format-version: 1.2
subsetdef: clingen "Disease classes available in the ClinGen resource"
subsetdef: disease_grouping "disease_grouping"
subsetdef: do_inheritance_inconsistent "classes where the corresponding DO term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406"
subsetdef: gard_rare "GARD rare disease subset"
subsetdef: harrisons_view "harrisons_view"
subsetdef: historic_epidemic "classes representing a historic epidemic"
subsetdef: implicit_genetic_in_ordo "in ORDO this is classified as genetic even though the class is used for non-genetic disorders"
subsetdef: inferred_rare "inferred rare disease subset"
subsetdef: merged_class "this class merges distinct concepts in other resources"
subsetdef: metaclass "A grouping of disease classes. Should be excluded from analysis"
subsetdef: mondo_rare "mondo rare"
subsetdef: mostly_harmless "condition has no severe phenotypes and is harmless or mostly harmless"
subsetdef: n_of_one "N of one"
subsetdef: nord_rare "nord rare"
subsetdef: not_a_disease "classes that do not represent diseases"
subsetdef: obsoletion_candidate "obsoletion candidate"
subsetdef: ordo_biological_anomaly "biological anomaly"
subsetdef: ordo_clinical_situation "particular clinical situation in a disease or syndrome"
subsetdef: ordo_clinical_subtype "clinical subtype"
subsetdef: ordo_clinical_syndrome "clinical syndrome"
subsetdef: ordo_disease "disease"
subsetdef: ordo_disorder "disorder"
subsetdef: ordo_etiological_subtype "etiological subtype"
subsetdef: ordo_group_of_disorders "group of disorders"
subsetdef: ordo_histopathological_subtype "histopathological subtype"
subsetdef: ordo_inheritance_inconsistent "classes where the corresponding ordo term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406"
subsetdef: ordo_malformation_syndrome "malformation syndrome"
subsetdef: ordo_morphological_anomaly "morphological anomaly"
subsetdef: ordo_subtype_of_a_disorder "subtype of a disorder"
subsetdef: orphanet_rare "orphanet rare"
subsetdef: otar "Disease classes available in the Open Targets resource"
subsetdef: other_hierarchy "A bin for classes that are likely not diseases and may be moved to a separate hierarchy"
subsetdef: predisposition "Diseases that are pre-dispositions to other diseases"
subsetdef: prototype_pattern "Conforms to the prototype design pattern where the classic/type1 form may be confused with the grouping type. See https://github.com/monarch-initiative/monarch-disease-ontology/issues/149"
subsetdef: rare "rare"
subsetdef: rare_grouping "rare grouping"
subsetdef: speculative "A hypothesized disease whose existence is speculative"
synonymtypedef: ABBREVIATION "abbreviation"
synonymtypedef: AMBIGUOUS "ambiguous"
synonymtypedef: CLINGEN_LABEL "ClinGen label"
synonymtypedef: DEPRECATED "A synonym that is historic and discouraged"
synonymtypedef: DUBIOUS "dubious synonym"
synonymtypedef: EXCLUDE "Synonym to be removed from public release but maintained in edit version as record of external usage"
synonymtypedef: MISSPELLING "A synonym that is recorded for consistency with another source but is a misspelling"
synonymtypedef: NON_HUMAN "A synonym that is used for non-human animal variants of a disease"
synonymtypedef: OMO:0003005 "UK spelling synonym"
import: http://purl.obolibrary.org/obo/mondo/components/mondo-tags.owl
import: http://purl.obolibrary.org/obo/mondo/imports/axioms.owl
import: http://purl.obolibrary.org/obo/mondo/imports/merged_import.owl
import: http://purl.obolibrary.org/obo/mondo/imports/omo_import.owl
ontology: mondo
property_value: http://purl.org/dc/elements/1.1/description "A semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology." xsd:string
property_value: http://purl.org/dc/elements/1.1/title "Mondo Disease Ontology" xsd:string
property_value: http://purl.org/dc/terms/license http://creativecommons.org/licenses/by/4.0/
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/chebi.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/doid.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/envo.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/go.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/hp.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/mf.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/ncbitaxon.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/ncit.owl
property_value: http://purl.org/dc/terms/source http://purl.obolibrary.org/obo/uberon.owl
property_value: http://purl.org/dc/terms/source http://www.orpha.net/ontology/orphanet.owl
property_value: http://purl.org/dc/terms/source https://id.nlm.nih.gov/mesh/
property_value: http://purl.org/dc/terms/source https://rarediseases.info.nih.gov/
property_value: http://xmlns.com/foaf/0.1/homepage "http://obofoundry.org/ontology/mondo.html" xsd:anyURI
property_value: IAO:0000700 MONDO:0000001
property_value: IAO:0000700 MONDO:0021125
property_value: IAO:0000700 MONDO:0021178
property_value: IAO:0000700 MONDO:0042489

[Term]
id: MONDO:0000001
name: disease
def: "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." [OGMS:0000031]
subset: ordo_disorder {source="Orphanet:377788"}
synonym: "condition" EXACT [NCIT:C2991]
synonym: "disease" EXACT [NCIT:C2991]
synonym: "disease or disorder" EXACT [NCIT:C2991]
synonym: "disease or disorder, non-neoplastic" EXACT [NCIT:C2991]
synonym: "diseases" EXACT [NCIT:C2991]
synonym: "diseases and disorders" EXACT [NCIT:C2991]
synonym: "disorder" EXACT [NCIT:C2991]
synonym: "disorders" EXACT [NCIT:C2991]
synonym: "medical condition" EXACT []
synonym: "other disease" EXACT [NCIT:C2991]
xref: DOID:4 {source="MONDO:equivalentTo", source="EFO:0000408"}
xref: ICD9:799.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004194 {source="MONDO:equivalentTo", source="DOID:4", source="EFO:0000408"}
xref: NCIT:C2991 {source="MONDO:equivalentTo", source="DOID:4"}
xref: OGMS:0000031 {source="MONDO:equivalentTo"}
xref: Orphanet:377788 {source="MONDO:equivalentTo"}
xref: SCTID:64572001 {source="MONDO:equivalentTo", source="DOID:4", source="EFO:0000408"}
xref: UMLS:C0012634 {source="MEDGEN:4347", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: BFO:0000016 ! disposition

[Term]
id: MONDO:0000002
name: obsolete 46,XX sex reversal
is_obsolete: true
replaced_by: MONDO:0009299

[Term]
id: MONDO:0000003
name: obsolete 17-hydroxysteroid dehydrogenase deficiency
is_obsolete: true

[Term]
id: MONDO:0000004
name: adrenocortical insufficiency
def: "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)." [NCIT:C26691]
subset: otar {source="MONDO:OTAR"}
synonym: "adrenal cortical hypofunction" EXACT [DOID:10493, NCIT:C26691]
synonym: "adrenal cortical insufficiency" EXACT [DOID:10493, NCIT:C26691, NCIT:C27150]
synonym: "adrenal gland insufficiency" EXACT [NCIT:C26691]
synonym: "adrenal insufficiency" EXACT [NCIT:C26691]
synonym: "adrenocortical insufficiency" EXACT [NCIT:C26691]
synonym: "corticoadrenal insufficiency" EXACT [DOID:10493]
synonym: "hypoadrenalism" RELATED [GARD:0006722]
synonym: "hypocortisolemia" EXACT [NCIT:C26691]
synonym: "hypocortisolism" EXACT [NCIT:C26691]
xref: DOID:10493 {source="MONDO:equivalentTo"}
xref: EFO:0009491 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:255.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10493"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:589758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000309 {source="MONDO:equivalentTo"}
xref: NCIT:C26691 {source="MONDO:equivalentTo", source="DOID:10493"}
xref: SCTID:154707007 {source="DOID:10493"}
xref: SCTID:190527008 {source="DOID:10493"}
xref: SCTID:267398003 {source="DOID:10493"}
xref: SCTID:267483004 {source="DOID:10493"}
xref: SCTID:386584007 {source="MONDO:equivalentTo", source="DOID:10493"}
xref: SCTID:68588005 {source="DOID:10493"}
xref: UMLS:C0405580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:589758"}
is_a: MONDO:0002816 {source="DOID:10493", source="MONDO:Inferred"} ! adrenal cortex disorder
relationship: disease_disrupts GO:0034651 ! cortisol biosynthetic process
relationship: disease_has_location UBERON:0001235 ! adrenal cortex

[Term]
id: MONDO:0000005
name: alopecia, isolated
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:203655 {source="MONDO:equivalentTo"}
is_a: MONDO:0004907 ! alopecia
is_a: MONDO:0100118 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary skin disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:203655"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0000006
name: obsolete alopecia-mental retardation syndrome
is_obsolete: true

[Term]
id: MONDO:0000007
name: obsolete atypical Mycobacteriosis, familial
comment: OMIM 209950 lists 300636 and 300645 as other types of this disease.
is_obsolete: true

[Term]
id: MONDO:0000008
name: obsolete bare lymphocyte syndrome
is_obsolete: true

[Term]
id: MONDO:0000009
name: inherited bleeding disorder, platelet-type
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bleeding disorder, platelet-type" EXACT [OMIMPS:231200]
synonym: "blood platelet disease" BROAD [DOID:2218]
synonym: "platelet disorder" BROAD [DOID:2218]
synonym: "thrombocytopathy" RELATED [DOID:2218]
xref: DOID:2218 {source="MONDO:equivalentTo"}
xref: MEDGEN:610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001791 {source="DOID:2218"}
xref: OMIMPS:231200 {source="MONDO:equivalentTo"}
xref: SCTID:22716005 {source="DOID:2218"}
xref: UMLS:C0005818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:610"}
is_a: MONDO:0002243 {source="DOID:2218", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hemorrhagic disease
is_a: MONDO:0002245 {source="MONDO:Entailed", source="MONDO:Redundant"} ! blood platelet disease
intersection_of: MONDO:0002243 ! hemorrhagic disease
intersection_of: disease_has_basis_in_dysfunction_of CL:0000233 ! platelet
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:231200"} ! inherited

[Term]
id: MONDO:0000010
name: obsolete cerebrooculofacioskeletal syndrome
is_obsolete: true
replaced_by: MONDO:0008926

[Term]
id: MONDO:0000011
name: obsolete chondrodysplasia
is_obsolete: true

[Term]
id: MONDO:0000012
name: obsolete choreoathetosis
synonym: "obsolete choreoathetosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete choreoathetosis (disease)" xsd:string
is_obsolete: true

[Term]
id: MONDO:0000013
name: obsolete choroidal dystrophy
is_obsolete: true
replaced_by: MONDO:0008982

[Term]
id: MONDO:0000014
name: colorblindness, partial
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0001703 {source="https://orcid.org/0000-0001-5208-3432"} ! color vision disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0000015
name: classic complement early component deficiency
def: "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response." [https://orcid.org/0000-0001-5208-3432, PMID:22773339]
subset: gard_rare {source="GARD:9526", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "genetic deficiency of early component of the classical complement pathway" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: GARD:9526 {source="MONDO:GARD"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363009005 {source="MONDO:equivalentTo"}
xref: UMLS:C1285186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226929"}
is_a: MONDO:0003832 {source="https://orcid.org/0000-0001-5208-3432"} ! complement deficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency" xsd:anyURI {source="GARD:0009526"}

[Term]
id: MONDO:0000016
name: obsolete coronary heart disease
is_obsolete: true
replaced_by: MONDO:0005010

[Term]
id: MONDO:0000017
name: obsolete deafness, autosomal recessive
is_obsolete: true
replaced_by: MONDO:0011791

[Term]
id: MONDO:0000018
name: obsolete myotonic dystrophy
is_obsolete: true
replaced_by: MONDO:0016107

[Term]
id: MONDO:0000019
name: obsolete ectodermal dysplasia
is_obsolete: true
replaced_by: MONDO:0019287

[Term]
id: MONDO:0000020
name: obsolete elliptocytosis
is_obsolete: true
replaced_by: MONDO:0017319

[Term]
id: MONDO:0000021
name: obsolete short-rib thoracic dysplasia
is_obsolete: true
replaced_by: MONDO:0018770

[Term]
id: MONDO:0000022
name: nocturnal enuresis
def: "Urination during sleep." [NCIT:C118172]
comment: See genetic heterogeneity of OMIM 600631.
synonym: "bedwetting" EXACT []
synonym: "enuresis, nocturnal" EXACT []
synonym: "sleep enuresis" EXACT [NCIT:C118172]
xref: MEDGEN:124355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053206 {source="MONDO:equivalentTo"}
xref: NCIT:C118172 {source="MONDO:equivalentTo"}
xref: UMLS:C0270327 {source="MEDGEN:124355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024290 {source="NCIT:C118172"} ! enuresis

[Term]
id: MONDO:0000023
name: infantile liver failure
comment: OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb).
subset: gard_rare {source="GARD:17820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464724"}
subset: orphanet_rare {source="Orphanet:464724"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fever-associated acute infantile liver failure syndrome" EXACT [Orphanet:464724]
synonym: "infantile liver failure syndrome" EXACT [OMIMPS:615438]
synonym: "liver failure, infantile" EXACT [OMIMPS:615438]
xref: DOID:0080716 {source="MONDO:equivalentTo"}
xref: GARD:17820 {source="MONDO:GARD"}
xref: MEDGEN:1813021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:615438 {source="MONDO:equivalentTo"}
xref: Orphanet:464724 {source="MONDO:equivalentTo"}
xref: UMLS:C5681094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1813021"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005154 {source="https://orcid.org/0000-0002-5002-8648"} ! liver disorder
is_a: MONDO:0100192 {source="https://orcid.org/0000-0001-5208-3432"} ! liver failure
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:615438"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0000024
name: obsolete exostoses, multiple
is_obsolete: true
replaced_by: MONDO:0005508

[Term]
id: MONDO:0000025
name: obsolete familial cold autoinflammatory syndrome
is_obsolete: true
replaced_by: MONDO:0018768

[Term]
id: MONDO:0000026
name: obsolete Fanconi renotubular syndrome
is_obsolete: true
replaced_by: MONDO:0001083

[Term]
id: MONDO:0000027
name: obsolete epilepsy, absence
is_obsolete: true

[Term]
id: MONDO:0000028
name: obsolete epilepsy, hot water
is_obsolete: true
replaced_by: MONDO:0013229

[Term]
id: MONDO:0000029
name: obsolete corticosterone methyloxidase deficiency
is_obsolete: true

[Term]
id: MONDO:0000030
name: sleep-related hypermotor epilepsy
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, nocturnal frontal lobe" EXACT [OMIMPS:600513]
synonym: "sleep-related hypermotor epilepsy" EXACT CLINGEN_LABEL [PMID:27164717]
xref: MEDGEN:937685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:600513 {source="MONDO:equivalentTo"}
xref: UMLS:C4313718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:937685"}
is_a: MONDO:0002612 ! frontal lobe epilepsy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600513"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3891" xsd:anyURI

[Term]
id: MONDO:0000031
name: obsolete fatty liver disease, nonalcoholic
is_obsolete: true
replaced_by: MONDO:0013209

[Term]
id: MONDO:0000032
name: febrile seizures, familial
subset: otar {source="MONDO:OTAR"}
synonym: "seizures, familial febrile" EXACT [OMIMPS:121210]
xref: DOID:0111297 {source="MONDO:equivalentTo"}
xref: OMIMPS:121210 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary disease
relationship: disease_has_feature HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years)
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:121210"} ! inherited

[Term]
id: MONDO:0000033
name: obsolete frontonasal dysplasia
is_obsolete: true
replaced_by: MONDO:0016643

[Term]
id: MONDO:0000034
name: obsolete glomerulopathy with fibronectin deposits
is_obsolete: true

[Term]
id: MONDO:0000035
name: obsolete glucocorticoid deficiency
is_obsolete: true

[Term]
id: MONDO:0000036
name: obsolete hemolytic anemia, nonspherocytic
is_obsolete: true

[Term]
id: MONDO:0000037
name: obsolete herpes simplex encephalitis, susceptibility
subset: predisposition
is_obsolete: true

[Term]
id: MONDO:0000038
name: obsolete hyper-IgE recurrent infection syndrome
comment: See text of OMIM 147060.
is_obsolete: true
consider: MONDO:0018037

[Term]
id: MONDO:0000039
name: obsolete hypercalciuria, absorptive
is_obsolete: true

[Term]
id: MONDO:0000040
name: obsolete hyperphenylalaninemia, BH4-deficient
is_obsolete: true
replaced_by: MONDO:0016543

[Term]
id: MONDO:0000041
name: obsolete hyperphosphatasia with mental retardation syndrome
is_obsolete: true
replaced_by: MONDO:0016596

[Term]
id: MONDO:0000042
name: obsolete hyperprolinemia
is_obsolete: true

[Term]
id: MONDO:0000043
name: obsolete hypomagnesemia
is_obsolete: true
replaced_by: MONDO:0018100

[Term]
id: MONDO:0000044
name: hereditary hypophosphatemic rickets
def: "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." [Orphanet:437]
subset: disease_grouping
subset: gard_rare {source="GARD:6735", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:437"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary hypophosphatemic rickets" EXACT [MONDO:patterns/hereditary]
xref: GARD:6735 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="Orphanet:437/inclusion", source="Orphanet:437/ntbt", source="MONDO:relatedTo", source="Orphanet:437"}
xref: icd11.foundation:1010293846 {source="Orphanet:437", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10060873 {source="Orphanet:437", source="Orphanet:437/e"}
xref: OMIMPS:193100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:437 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0024300 ! hypophosphatemic rickets
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:193100", source="https://orcid.org/0000-0001-5208-3432"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets" xsd:anyURI {source="GARD:0006735"}

[Term]
id: MONDO:0000045
name: hypothyroidism, congenital, nongoitrous
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: OMIMPS:275200 {source="MONDO:equivalentTo"}
is_a: MONDO:0018612 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:275200"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0000046
name: obsolete hypouricemia, renal
comment: See text of OMIM 220150, does not include 307830.
is_obsolete: true

[Term]
id: MONDO:0000047
name: obsolete immunodeficiency with hyper-IgM
is_obsolete: true
replaced_by: MONDO:0003947

[Term]
id: MONDO:0000048
name: obsolete immunoglobulin A deficiency
is_obsolete: true
replaced_by: MONDO:0001341

[Term]
id: MONDO:0000049
name: obsolete invasive pneumococcal disease, recurrent isolated
comment: Obsolete in OMIM.
xref: OMIMPS:610799 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2339" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7766" xsd:anyURI
is_obsolete: true
consider: MONDO:0021094

[Term]
id: MONDO:0000050
name: isolated congenital growth hormone deficiency
subset: gard_rare {source="GARD:12556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:631"}
subset: orphanet_rare {source="Orphanet:631"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital IGHD" EXACT [DOID:0060870, Orphanet:631]
synonym: "congenital isolated GH deficiency" EXACT [DOID:0060870, Orphanet:631]
synonym: "congenital isolated growth hormone deficiency" EXACT [DOID:0060870, Orphanet:631]
synonym: "familial isolated growth hormone deficiency" EXACT [DOID:0060870]
synonym: "ICGHD" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "IGHD" EXACT ABBREVIATION [DOID:0060870]
synonym: "isolated growth hormone deficiency" EXACT [DOID:0060870, OMIMPS:262400]
synonym: "non-acquired isolated growth hormone deficiency" RELATED [DOID:0060870]
xref: DOID:0060870 {source="MONDO:equivalentTo"}
xref: GARD:12556 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:631", source="DOID:0060870", source="Orphanet:631/ntbt", source="Orphanet:631/inclusion"}
xref: MedDRA:10035083 {source="Orphanet:631", source="Orphanet:631/e"}
xref: MEDGEN:1843308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200317 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:262400 {source="MONDO:equivalentTo"}
xref: Orphanet:631 {source="DOID:0060870", source="MONDO:equivalentTo"}
xref: SCTID:2109003 {source="MONDO:equivalentTo"}
xref: UMLS:C5679572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843308"}
is_a: MONDO:0005152 {source="DOID:0060870", source="MONDO:Redundant"} ! hypopituitarism
is_a: MONDO:0019824 {source="MONDO:Redundant", source="Orphanet:631"} ! non-acquired pituitary hormone deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:262400"} ! inherited

[Term]
id: MONDO:0000051
name: obsolete keratoderma, palmoplantar striate
comment: See genetic heterogeneity of OMIM 148700.
is_obsolete: true

[Term]
id: MONDO:0000052
name: obsolete leukodystrophy, hypomyelinating
is_obsolete: true

[Term]
id: MONDO:0000053
name: obsolete macroglobulinemia, Waldenstrom
is_obsolete: true

[Term]
id: MONDO:0000054
name: obsolete macular dystrophy
synonym: "obsolete macular dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete macular dystrophy (disease)" xsd:string
is_obsolete: true
consider: MONDO:0020242

[Term]
id: MONDO:0000055
name: obsolete major affective disorder
is_obsolete: true
replaced_by: MONDO:0004985

[Term]
id: MONDO:0000056
name: obsolete mandibuloacral dysplasia with lipodystrophy
is_obsolete: true
replaced_by: MONDO:0016584

[Term]
id: MONDO:0000057
name: obsolete medullary cystic kidney disease
is_obsolete: true

[Term]
id: MONDO:0000058
name: obsolete melanoma, cutaneous malignant
is_obsolete: true
consider: MONDO:0024462

[Term]
id: MONDO:0000059
name: obsolete methylmalonic aciduria and homocystinuria
is_obsolete: true
replaced_by: MONDO:0016826

[Term]
id: MONDO:0000060
name: microcephalic osteodysplastic primordial dwarfism
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-5208-3432"} ! microcephaly

[Term]
id: MONDO:0000061
name: obsolete microcephaly, primary, autosomal recessive
is_obsolete: true
replaced_by: MONDO:0016660

[Term]
id: MONDO:0000062
name: isolated microphthalmia
def: "A microphthalmia that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: otar {source="MONDO:OTAR"}
synonym: "microphthalmia, isolated" EXACT [OMIMPS:251600]
synonym: "nonsyndromic microphthalmia" EXACT [MONDO:patterns/isolated]
xref: DOID:0080637 {source="MONDO:equivalentTo"}
xref: OMIMPS:251600 {source="MONDO:equivalentTo"}
is_a: MONDO:0021129 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! microphthalmia
intersection_of: MONDO:0021129 ! microphthalmia
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:251600"} ! inherited

[Term]
id: MONDO:0000063
name: obsolete molybdenum cofactor deficiency
synonym: "molybdenum cofactor deficiency" EXACT [MONDO:ambiguous]
synonym: "obsolete molybdenum cofactor deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0003570 {source="MONDO:otherHierarchy"}
property_value: IAO:0000589 "obsolete molybdenum cofactor deficiency (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0020480

[Term]
id: MONDO:0000064
name: obsolete syndromic microphthalmia
is_obsolete: true
replaced_by: MONDO:0016073

[Term]
id: MONDO:0000065
name: microvascular complications of diabetes, susceptibility
comment: Editor note: relationship to diabetic angiopathy
subset: predisposition
synonym: "microvascular complications of diabetes" EXACT [OMIMPS:603933]
xref: OMIMPS:603933 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005266 ! diabetic retinopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603933"} ! inherited

[Term]
id: MONDO:0000066
name: mitochondrial complex deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0004069 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial metabolism disorder

[Term]
id: MONDO:0000067
name: obsolete mitochondrial DNA depletion syndrome
is_obsolete: true
replaced_by: MONDO:0018158

[Term]
id: MONDO:0000068
name: obsolete mucolipidosis
is_obsolete: true
replaced_by: MONDO:0019248

[Term]
id: MONDO:0000069
name: obsolete multiple endocrine neoplasia
is_obsolete: true
replaced_by: MONDO:0017169

[Term]
id: MONDO:0000070
name: Mycobacterium tuberculosis, susceptibility
subset: predisposition
synonym: "Mycobacterium tuberculosis, susceptibility to" EXACT [OMIM:607948]
synonym: "Mycobacterium tuberculosis, susceptibility to infection by" EXACT [GARD:0002456]
synonym: "tuberculosis, susceptibility to" BROAD [OMIM:607948, OMIM:genemap2]
xref: MESH:C536092 {source="MONDO:equivalentTo"}
xref: OMIM:607948 {source="GARD:0002456", source="MONDO:equivalentTo"}
xref: Orphanet:3389 {source="OMIM:607948"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0018076 ! tuberculosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7616" xsd:anyURI

[Term]
id: MONDO:0000071
name: obsolete myopathy, myofibrillar
is_obsolete: true
replaced_by: MONDO:0018943

[Term]
id: MONDO:0000072
name: obsolete myopathy, reducing body, X-linked
is_obsolete: true

[Term]
id: MONDO:0000073
name: obsolete nail disorder, nonsyndromic congenital
is_obsolete: true
replaced_by: MONDO:0019284

[Term]
id: MONDO:0000074
name: obsolete neurodegeneration with brain iron accumulation
is_obsolete: true
replaced_by: MONDO:0018307

[Term]
id: MONDO:0000075
name: obsolete neuronopathy, distal hereditary motor
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6845" xsd:string
is_obsolete: true
replaced_by: MONDO:0018894

[Term]
id: MONDO:0000076
name: obsolete neuropathy, hereditary sensory and autonomic
is_obsolete: true
consider: MONDO:0015364

[Term]
id: MONDO:0000077
name: obsolete nystagmus
synonym: "obsolete nystagmus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete nystagmus (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0005712

[Term]
id: MONDO:0000078
name: acrocephalopolysyndactyly
def: "A common presentation of craniosynostosis and polysyndactyly." [Wikipedia:Acrocephalosyndactylia]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACPS" EXACT ABBREVIATION [Wikipedia:Acrocephalosyndactylia]
xref: MEDGEN:673840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:205260006 {source="MONDO:equivalentTo"}
xref: UMLS:C0687154 {source="MEDGEN:673840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019796 {source="Wikipedia:Acrocephalosyndactylia"} ! acrocephalosyndactyly

[Term]
id: MONDO:0000079
name: nephrolithiasis/osteoporosis, hypophosphatemic
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:0080655 {source="MONDO:equivalentTo"}
xref: OMIMPS:612286 {source="MONDO:equivalentTo"}
is_a: MONDO:0005298 {source="https://orcid.org/0000-0001-5208-3432"} ! osteoporosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:612286"} ! inherited

[Term]
id: MONDO:0000080
name: obsolete Oto-palato-digital syndrome
comment: See description of OMIM 311300. Based on OMIM text I've included 305620 and 309350 in this series. "Frontometaphyseal dysplasia is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum.".
is_obsolete: true
replaced_by: MONDO:0010704

[Term]
id: MONDO:0000081
name: obsolete ovarian dysgenesis
is_obsolete: true
replaced_by: MONDO:0009299

[Term]
id: MONDO:0000082
name: pelvic organ prolapse
def: "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." [MESH:D056887]
comment: Text of OMIM 613088 points to OMIM 176780 for disease description.
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004710 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:209090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056887 {source="EFO:0004710", source="MONDO:equivalentTo"}
xref: SCTID:237113009 {source="EFO:0004710", source="MONDO:equivalentTo"}
xref: UMLS:C0877015 {source="MEDGEN:209090", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="EFO:0004710"} ! reproductive system disorder

[Term]
id: MONDO:0000083
name: obsolete Griscelli syndrome
is_obsolete: true
replaced_by: MONDO:0018306

[Term]
id: MONDO:0000084
name: obsolete pigmented nodular adrenocortical disease
is_obsolete: true
replaced_by: MONDO:0015999

[Term]
id: MONDO:0000085
name: obsolete pituitary hormone deficiency, combined
is_obsolete: true
replaced_by: MONDO:0013099

[Term]
id: MONDO:0000086
name: obsolete polydactyly, preaxial
is_obsolete: true
replaced_by: MONDO:0017425

[Term]
id: MONDO:0000087
name: polymicrogyria
def: "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." [NCIT:C116936]
subset: disease_grouping
subset: gard_rare {source="GARD:18818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:35981"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080918 {source="MONDO:equivalentTo"}
xref: GARD:18818 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:35981/inclusion", source="Orphanet:35981/ntbt", source="Orphanet:35981"}
xref: icd11.foundation:2081858551 {source="MONDO:equivalentTo", source="Orphanet:35981"}
xref: MEDGEN:78605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065706 {source="MONDO:equivalentTo"}
xref: NANDO:1201071 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116936 {source="MONDO:equivalentTo"}
xref: Orphanet:35981 {source="MONDO:equivalentTo"}
xref: SCTID:4945003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266464 {source="MEDGEN:78605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="NCIT:C116936"} ! congenital nervous system disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:35981", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare

[Term]
id: MONDO:0000088
name: precocious puberty
def: "Unusually early sexual maturity." [NCIT:C79704]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:95708"}
subset: otar {source="MONDO:OTAR"}
synonym: "familial precocious puberty" NARROW [GARD:0007446]
synonym: "idiopathic sexual precocity" NARROW [GARD:0007446]
synonym: "pubertas praecox" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/]
synonym: "sexual precocity" EXACT [GARD:0007446, https://rarediseases.org/rare-diseases/precocious-puberty/]
xref: HP:0000826
xref: ICD10CM:E22.8 {source="Orphanet:95708/nd", source="Orphanet:95708"}
xref: ICD10CM:E30.1 {source="Orphanet:95708/nd", source="MONDO:equivalentTo", source="Orphanet:95708"}
xref: ICD9:259.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10044701 {source="Orphanet:95708/e", source="Orphanet:95708"}
xref: MedDRA:10058084 {source="Orphanet:95708/e", source="Orphanet:95708"}
xref: MEDGEN:18752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011629 {source="Orphanet:95708/e", source="MONDO:equivalentTo", source="Orphanet:95708"}
xref: NANDO:2100135 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C79704 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: Orphanet:95708 {source="MONDO:equivalentTo"}
xref: SCTID:400179000 {source="MONDO:equivalentTo"}
xref: UMLS:C0034013 {source="MONDO:equivalentTo", source="MEDGEN:18752", source="MONDO:MEDGEN"}
is_a: MONDO:0002259 {source="MESH:D011629"} ! gonadal disorder
relationship: disease_disrupts GO:0003006 ! developmental process involved in reproduction
relationship: disease_has_basis_in_disruption_of GO:0050886 ! endocrine process
relationship: excluded_subClassOf MONDO:0019590 {source="Orphanet:95708", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare endocrine growth disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty" xsd:anyURI {source="GARD:0007446"}

[Term]
id: MONDO:0000089
name: obsolete age-related hearing impairment
is_obsolete: true
replaced_by: MONDO:0005562

[Term]
id: MONDO:0000090
name: progressive external ophthalmoplegia with mitochondrial DNA deletions
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "progressive external ophthalmoplegia with mtDNA deletions" EXACT [OMIMPS:157640]
xref: OMIMPS:157640 {source="MONDO:equivalentTo"}
is_a: MONDO:0005181 {source="https://orcid.org/0000-0001-5208-3432"} ! progressive external ophthalmoplegia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:157640"} ! inherited

[Term]
id: MONDO:0000091
name: obsolete progressive familial heart block
is_obsolete: true
replaced_by: MONDO:0019490

[Term]
id: MONDO:0000092
name: obsolete pyloric stenosis, infantile
is_obsolete: true
replaced_by: MONDO:0001560

[Term]
id: MONDO:0000093
name: obsolete Schistosoma mansoni infection, susceptibility
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7352" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0859050

[Term]
id: MONDO:0000094
name: obsolete spherocytosis
synonym: "obsolete spherocytosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "spherocytosis" EXACT [MONDO:ambiguous]
xref: HP:0004444 {source="MONDO:otherHierarchy"}
property_value: IAO:0000589 "obsolete spherocytosis (disease)" xsd:string
is_obsolete: true

[Term]
id: MONDO:0000095
name: obsolete split-hand/foot malformation
is_obsolete: true
replaced_by: MONDO:0016576

[Term]
id: MONDO:0000096
name: obsolete pulmonary surfactant metabolism dysfunction
comment: OMIM series 265120.
synonym: "SMDP" RELATED ABBREVIATION []
is_obsolete: true
replaced_by: MONDO:0012580

[Term]
id: MONDO:0000097
name: obsolete thyroid dyshormonogenesis
is_obsolete: true

[Term]
id: MONDO:0000098
name: obsolete thyrotoxic periodic paralysis
is_obsolete: true
replaced_by: MONDO:0019201

[Term]
id: MONDO:0000099
name: obsolete trichoepithelioma, multiple familial
is_obsolete: true

[Term]
id: MONDO:0000100
name: obsolete trichorhinophalangeal syndrome
is_obsolete: true

[Term]
id: MONDO:0000101
name: obsolete tumoral calcinosis
is_obsolete: true
replaced_by: MONDO:0018891

[Term]
id: MONDO:0000102
name: obsolete vertigo
is_obsolete: true

[Term]
id: MONDO:0000103
name: obsolete Wilms tumor
is_obsolete: true
replaced_by: MONDO:0019004

[Term]
id: MONDO:0000104
name: anemia, hypochromic microcytic with iron overload
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anemia, hypochromic microcytic, with iron overload" EXACT [OMIMPS:206100]
xref: MEDGEN:388759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567144 {source="MONDO:equivalentTo"}
xref: OMIMPS:206100 {source="MONDO:equivalentTo"}
xref: UMLS:C2673913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388759"}
is_a: MONDO:0000387 {source="https://orcid.org/0000-0001-5208-3432"} ! hypochromic microcytic anemia
is_a: MONDO:0001357 {source="https://orcid.org/0000-0001-5208-3432"} ! hypochromic anemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:206100"} ! inherited

[Term]
id: MONDO:0000105
name: anemia, nonspherocytic hemolytic
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:871250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4025735 {source="MEDGEN:871250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006506 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital nonspherocytic hemolytic anemia

[Term]
id: MONDO:0000106
name: obsolete apnea
synonym: "apnea" EXACT [MONDO:ambiguous]
synonym: "obsolete apnea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete apnea (disease)" xsd:string
is_obsolete: true

[Term]
id: MONDO:0000107
name: auriculocondylar syndrome
def: "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." [Orphanet:137888]
subset: gard_rare {source="GARD:9798", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137888"}
subset: ordo_malformation_syndrome {source="Orphanet:137888"}
subset: orphanet_rare {source="Orphanet:137888"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "auriculo-condylar syndrome" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "dysgnathia complex" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "ears prominent and constricted" RELATED [GARD:0009798]
synonym: "question mark ear" RELATED [GARD:0009798]
synonym: "question mark ear syndrome" EXACT [Orphanet:137888]
synonym: "question-mark ear syndrome" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: GARD:9798 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:137888/attributed", source="Orphanet:137888/ntbt", source="Orphanet:137888"}
xref: MEDGEN:355953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538270 {source="Orphanet:137888", source="MONDO:equivalentTo", source="Orphanet:137888/e"}
xref: OMIMPS:602483 {source="MONDO:equivalentTo"}
xref: Orphanet:137888 {source="MONDO:equivalentTo"}
xref: SCTID:702443003 {source="MONDO:equivalentTo"}
xref: UMLS:C1865295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355953"}
is_a: MONDO:0007500 {source="https://orcid.org/0000-0002-6601-2165"} ! ear malformation
relationship: excluded_subClassOf MONDO:0015397 {source="Orphanet:137888", source="https://orcid.org/0000-0001-5208-3432"} ! craniofacial microsomia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:602483"} ! inherited

[Term]
id: MONDO:0000108
name: bacteremia, susceptibility
subset: predisposition
xref: MEDGEN:482276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3280646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482276"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005229 ! bacterial infectious disease with sepsis

[Term]
id: MONDO:0000109
name: obsolete basal ganglia calcification, idiopathic
is_obsolete: true
replaced_by: MONDO:0000720

[Term]
id: MONDO:0000110
name: bifid nose
def: "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." [Orphanet:2695]
subset: gard_rare {source="GARD:884", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2695"}
subset: ordo_malformation_syndrome {source="Orphanet:2695"}
subset: orphanet_rare {source="Orphanet:2695"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:884 {source="MONDO:GARD"}
xref: ICD10CM:Q30.2 {source="Orphanet:2695/attributed", source="Orphanet:2695/ntbt", source="Orphanet:2695"}
xref: icd11.foundation:1824850646 {source="Orphanet:2695", source="MONDO:equivalentTo"}
xref: MEDGEN:66379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535441 {source="Orphanet:2695", source="MONDO:equivalentTo", source="Orphanet:2695/e"}
xref: Orphanet:2695 {source="MONDO:equivalentTo"}
xref: UMLS:C0221363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66379"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0015411 {source="https://orcid.org/0000-0002-4142-7153"} ! facial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0000111
name: camptodactyly syndrome, Guadalajara
comment: Text for OMIM 211910 includes 211920 and 611929 as other types.
is_a: MONDO:0003847 ! hereditary disease

[Term]
id: MONDO:0000112
name: obsolete cardioencephalomyopathy, fatal infantile
is_obsolete: true
replaced_by: MONDO:0015487

[Term]
id: MONDO:0000113
name: obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome
is_obsolete: true

[Term]
id: MONDO:0000114
name: cerebelloparenchymal disorder
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0003847 ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0000115
name: Chiari malformation
def: "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus." [NCIT:C84570]
comment: Nomenclature of OMIM 118420 includes 207950 as another type.
subset: otar {source="MONDO:OTAR"}
synonym: "(Arnold) Chiari malformation" EXACT [NCIT:C84570]
synonym: "Arnold-Chiari malformation" EXACT [NCIT:C84570]
synonym: "Chiari malformation" EXACT [NCIT:C84570]
xref: MEDGEN:2065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001139 {source="MONDO:equivalentTo"}
xref: NCIT:C84570 {source="MONDO:equivalentTo"}
xref: SCTID:253184003 {source="MONDO:equivalentTo"}
xref: UMLS:C0003803 {source="MEDGEN:2065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0000116
name: obsolete cortical dysplasia, complex, with other brain malformations
is_obsolete: true
replaced_by: MONDO:0000904

[Term]
id: MONDO:0000117
name: obsolete diarrhea, congenital
is_obsolete: true
replaced_by: MONDO:0000824

[Term]
id: MONDO:0000118
name: reticulate pigment disorder
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "reticulate pigment disorders" EXACT [OMIMPS:179850]
xref: OMIMPS:179850 {source="MONDO:equivalentTo"}
is_a: MONDO:0019288 {source="OMIMPS:179850", source="https://orcid.org/0000-0002-4142-7153"} ! skin pigmentation disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:179850"} ! inherited

[Term]
id: MONDO:0000119
name: congenital heart defects, multiple types
comment: Genetic heterogeneity of OMIM:306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease.
subset: otar {source="MONDO:OTAR"}
synonym: "CHTD" RELATED ABBREVIATION []
is_a: MONDO:0005453 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital heart disease

[Term]
id: MONDO:0000120
name: obsolete ectopia lentis, isolated
is_obsolete: true
replaced_by: MONDO:0015998

[Term]
id: MONDO:0000121
name: obsolete emphysema
is_obsolete: true
replaced_by: MONDO:0005024

[Term]
id: MONDO:0000122
name: obsolete facial paresis, hereditary congenital
is_obsolete: true
replaced_by: MONDO:0011090

[Term]
id: MONDO:0000123
name: obsolete factor V and Factor VIII, combined deficiency of
is_obsolete: true
replaced_by: MONDO:0018175

[Term]
id: MONDO:0000124
name: obsolete focal facial dermal dysplasia
is_obsolete: true
replaced_by: MONDO:0018363

[Term]
id: MONDO:0000125
name: obsolete fundus dystrophy, pseudoinflammatory
is_obsolete: true

[Term]
id: MONDO:0000126
name: obsolete gastric cancer
is_obsolete: true
replaced_by: MONDO:0001056

[Term]
id: MONDO:0000127
name: geleophysic dysplasia
def: "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." [Orphanet:2623]
subset: gard_rare {source="GARD:2449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2623"}
subset: ordo_malformation_syndrome {source="Orphanet:2623"}
subset: orphanet_rare {source="Orphanet:2623"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "geleophysic dwarfism" EXACT [Orphanet:2623]
synonym: "geleophysic dwarfism syndrome" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0111724 {source="MONDO:equivalentTo"}
xref: GARD:2449 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2623", source="Orphanet:2623/attributed", source="Orphanet:2623/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063361 {source="Orphanet:2623", source="Orphanet:2623/e"}
xref: MEDGEN:483679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537677 {source="Orphanet:2623", source="Orphanet:2623/e"}
xref: OMIMPS:231050 {source="MONDO:equivalentTo"}
xref: Orphanet:2623 {source="MONDO:equivalentTo"}
xref: SCTID:28557005 {source="MONDO:equivalentTo"}
xref: UMLS:C3489726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483679"}
is_a: MONDO:0019695 {source="Orphanet:2623"} ! acromelic dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:231050"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4666" xsd:anyURI

[Term]
id: MONDO:0000128
name: giant axonal neuropathy
def: "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." [NCIT:C84728]
comment: See genetic heterogeneity of OMIM 256850.
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="NORD:1182", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1684765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056768 {source="MONDO:equivalentTo"}
xref: NCIT:C84728 {source="MONDO:equivalentTo"}
xref: NORD:1182 {source="MONDO:NORD"}
xref: OMIMPS:256850 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:128207002 {source="MONDO:equivalentTo"}
xref: UMLS:C5200933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684765"}
is_a: MONDO:0004183 {source="https://orcid.org/0000-0001-5208-3432"} ! axonal neuropathy
is_a: MONDO:0005244 {source="MONDO:0000128/inferred", source="MONDO:Redundant", source="NCIT:C84728"} ! peripheral neuropathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256850"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2532" xsd:anyURI

[Term]
id: MONDO:0000129
name: glutaric aciduria
comment: Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency
subset: otar {source="MONDO:OTAR"}
synonym: "glutaric acidemia" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "glutaric aciduria" EXACT [MONDO:ambiguous]
synonym: "glutaric aciduria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0003150 {source="MONDO:otherHierarchy"}
xref: HP:0003530 {source="MONDO:otherHierarchy"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28987007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75695"}
is_a: MONDO:0005066 ! metabolic disease
property_value: IAO:0000589 "glutaric aciduria (disease)" xsd:string

[Term]
id: MONDO:0000130
name: obsolete hypercarotenemia and vitamin a deficiency
is_obsolete: true

[Term]
id: MONDO:0000131
name: obsolete hyperpigmentation, familial progressive
is_obsolete: true

[Term]
id: MONDO:0000132
name: obsolete hypocalcemia
synonym: "obsolete hypocalcemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete hypocalcemia (disease)" xsd:string
is_obsolete: true

[Term]
id: MONDO:0000133
name: immunodeficiency-centromeric instability-facial anomalies syndrome
def: "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." [Orphanet:2268]
subset: gard_rare {source="GARD:2945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2268"}
subset: ordo_malformation_syndrome {source="Orphanet:2268"}
subset: orphanet_rare {source="Orphanet:2268"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CIID" RELATED ABBREVIATION [GARD:0002945]
synonym: "ICF syndrome" RELATED [DOID:0090007]
synonym: "immunodeficiency-centromeric instability-facial anomalies" EXACT [OMIMPS:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [Orphanet:2268]
xref: DOID:0090007 {source="MONDO:equivalentTo"}
xref: GARD:2945 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:2268/attributed", source="Orphanet:2268/ntbt", source="Orphanet:2268", source="DOID:0090007"}
xref: MEDGEN:140770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537362 {source="MONDO:equivalentTo"}
xref: NANDO:1200334 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200708 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:242860 {source="MONDO:equivalentTo", source="DOID:0090007"}
xref: Orphanet:2268 {source="MONDO:equivalentTo", source="DOID:0090007"}
xref: SCTID:234633000 {source="MONDO:equivalentTo"}
xref: UMLS:C0398788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140770"}
is_a: MONDO:0006025 {source="DOID:0090007", source="MONDO:Redundant", source="Orphanet:2268"} ! autosomal recessive disease
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:2268"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:242860"} ! inherited

[Term]
id: MONDO:0000134
name: obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia
is_obsolete: true
replaced_by: MONDO:0000507

[Term]
id: MONDO:0000135
name: obsolete Kenny-Caffey syndrome
is_obsolete: true
replaced_by: MONDO:0016516

[Term]
id: MONDO:0000136
name: keratosis follicularis spinulosa decalvans
def: "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." [Orphanet:2340]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:6829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1288"}
subset: ordo_disorder {source="Orphanet:2340"}
subset: orphanet_rare {source="Orphanet:2340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratosis pilaris decalvans" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0080753 {source="MONDO:equivalentTo"}
xref: GARD:6829 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2340/attributed", source="Orphanet:2340/ntbt", source="Orphanet:2340"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536159 {source="Orphanet:2340/e", source="Orphanet:2340"}
xref: NORD:1288 {source="MONDO:NORD"}
xref: Orphanet:2340 {source="MONDO:equivalentTo"}
xref: SCTID:238626006 {source="MONDO:equivalentTo"}
xref: UMLS:C0343057 {source="MEDGEN:83355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006566 {source="https://orcid.org/0000-0001-5208-3432"} ! keratosis
is_a: MONDO:0018855 {source="Orphanet:2340"} ! keratosis pilaris atrophicans
is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0000137
name: leukoencephalopathy, megalencephalic
subset: otar {source="MONDO:OTAR"}
xref: OMIMPS:604004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 ! brain disorder
relationship: disease_has_feature HP:0002352 ! Leukoencephalopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604004"} ! inherited

[Term]
id: MONDO:0000138
name: metaphyseal chondrodysplasia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "metaphyseal chondrodysplasia" EXACT [MONDO:ambiguous]
synonym: "metaphyseal chondrodysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0005871 {source="MONDO:otherHierarchy"}
xref: MEDGEN:120528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28681006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265290 {source="MEDGEN:120528", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009943 ! Pyle disease
property_value: IAO:0000589 "metaphyseal chondrodysplasia (disease)" xsd:string

[Term]
id: MONDO:0000139
name: obsolete microcephalic primordial dwarfism
is_obsolete: true
replaced_by: MONDO:0017950

[Term]
id: MONDO:0000140
name: obsolete MONDO:0000140
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016558

[Term]
id: MONDO:0000141
name: mosaic variegated aneuploidy syndrome
def: "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." [Orphanet:1052]
subset: gard_rare {source="GARD:3007", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1052"}
subset: ordo_malformation_syndrome {source="Orphanet:1052"}
subset: orphanet_rare {source="Orphanet:1052"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mosaic variegated aneuploidy syndrome 1" EXACT [NCIT:C128192]
synonym: "MVA1" EXACT ABBREVIATION [NCIT:C128192]
synonym: "Warburton-Anyane-Yeboa syndrome" EXACT [Orphanet:1052]
xref: DOID:0080688 {source="MONDO:equivalentTo"}
xref: GARD:3007 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:1052/attributed", source="Orphanet:1052/ntbt", source="Orphanet:1052"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1641418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536987 {source="Orphanet:1052/e", source="MONDO:equivalentTo", source="Orphanet:1052"}
xref: NCIT:C128192 {source="MONDO:equivalentTo"}
xref: OMIMPS:257300 {source="MONDO:equivalentTo"}
xref: Orphanet:1052 {source="MONDO:equivalentTo", source="OMIM:257300"}
xref: SCTID:700056005 {source="MONDO:equivalentTo"}
xref: UMLS:C4551972 {source="MEDGEN:1641418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015356 {source="MONDO:Redundant", source="Orphanet:1052/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary neoplastic syndrome
is_a: MONDO:0019040 {source="MESH:C536987", source="Orphanet:1052"} ! chromosomal disorder
is_a: MONDO:0021058 {source="MONDO:Redundant", source="NCIT:C128192"} ! neoplastic syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:257300"} ! inherited
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0000142
name: obsolete multiple congenital anomalies-hypotonia-seizures syndrome
is_obsolete: true
replaced_by: MONDO:0019042

[Term]
id: MONDO:0000143
name: obsolete multiple mitochondrial dysfunctions syndrome
is_obsolete: true

[Term]
id: MONDO:0000144
name: pregnancy loss, recurrent, susceptibility
comment: See genetic heterogeneity of OMIM 614389. RPRGL4 exists only as and INCLUDED entity of OMIM 604759.
subset: predisposition
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards HP:0200067 ! Recurrent spontaneous abortion
relationship: disease_disrupts GO:0007565 ! female pregnancy

[Term]
id: MONDO:0000145
name: obsolete premature aging syndrome
is_obsolete: true

[Term]
id: MONDO:0000146
name: obsolete progeroid syndrome
is_obsolete: true
replaced_by: MONDO:0015333

[Term]
id: MONDO:0000147
name: polyposis
subset: otar {source="MONDO:OTAR"}
synonym: "multiple polyps" EXACT [NCIT:C4089]
synonym: "polyposis" EXACT [NCIT:C4089]
xref: MEDGEN:137722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100257 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4089 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0334108 {source="MEDGEN:137722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021075 {source="NCIT:C4089"} ! neoplastic polyp

[Term]
id: MONDO:0000148
name: pulmonary fibrosis and/or bone marrow failure, telomere-related
comment: See genetic heterogeneity of OMIM 614742.
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: OMIMPS:614742 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
is_a: MONDO:0002771 {source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary fibrosis
is_a: MONDO:0100137 {source="OMIMPS:614742", source="https://github.com/monarch-initiative/mondo/issues/1631"} ! telomere syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614742"} ! inherited

[Term]
id: MONDO:0000149
name: obsolete retinopathy
is_obsolete: true
replaced_by: MONDO:0005283

[Term]
id: MONDO:0000150
name: obsolete spondylometaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0016763

[Term]
id: MONDO:0000151
name: symphalangism
subset: otar {source="MONDO:OTAR"}
xref: SCTID:253975004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005172 ! skeletal system disorder

[Term]
id: MONDO:0000152
name: thiamine-responsive dysfunction syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "thiamine-responsive dysfunction syndrome" EXACT CLINGEN_LABEL []
xref: OMIMPS:249270 {source="MONDO:equivalentTo"}
is_a: MONDO:0017578 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of thiamine metabolism and transport
relationship: disease_responds_to CHEBI:26948 ! vitamin B1
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:249270"} ! inherited

[Term]
id: MONDO:0000153
name: transposition of the great arteries
def: "A congenital cardiac defect in which two heart vessels are reversed (transposed)." [NCIT:C84742]
subset: disease_grouping
subset: gard_rare {source="GARD:7795", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:216675"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete transposition" EXACT [Orphanet:216675]
synonym: "great vessels transposition" EXACT [NCIT:C84742]
synonym: "TGA" EXACT ABBREVIATION [Orphanet:216675]
synonym: "TGV" EXACT ABBREVIATION [Orphanet:216675]
synonym: "transposition of great vessels" EXACT [NCIT:C84742]
synonym: "transposition of the great vessels" EXACT [Orphanet:216675]
xref: GARD:7795 {source="MONDO:GARD"}
xref: ICD10CM:Q20.3 {source="Orphanet:216675/btnt", source="Orphanet:216675"}
xref: ICD10CM:Q20.5 {source="Orphanet:216675/btnt", source="Orphanet:216675"}
xref: icd11.foundation:429190257 {source="MONDO:equivalentTo", source="Orphanet:216675"}
xref: MEDGEN:21245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014188 {source="MONDO:equivalentTo"}
xref: NANDO:2200258 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84742 {source="MONDO:equivalentTo"}
xref: Orphanet:216675 {source="MONDO:equivalentTo"}
xref: UMLS:C0040761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21245"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0000154
name: obsolete Trichohepatoenteric syndrome
is_obsolete: true

[Term]
id: MONDO:0000155
name: triglyceride storage disease
def: "An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride." [MONDO:patterns/inborn_metabolic]
comment: See text of OMIM 190430.
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "inborn error of sequestering of triglyceride" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sequestering of triglyceride disorder" EXACT []
synonym: "rare inborn error of sequestering of triglyceride" EXACT [MONDO:patterns/inborn_metabolic]
is_a: MONDO:0019245 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! lysosomal lipid storage disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0030730 ! sequestering of triglyceride

[Term]
id: MONDO:0000156
name: trigonocephaly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "trigonocephalia" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "trigonocephalus" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "trigonocephaly" EXACT [OMIMPS:190440]
synonym: "trigonocephaly, isolated" RELATED [OMIMPS:190440]
xref: MEDGEN:82713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28740008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82713"}
is_a: MONDO:0018234 ! dysostosis
relationship: disease_has_major_feature HP:0000243 ! Trigonocephaly

[Term]
id: MONDO:0000157
name: obsolete episodic pain syndrome, familial
is_obsolete: true

[Term]
id: MONDO:0000158
name: developmental dysplasia of the hip
def: "A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital acetabular dysplasia" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "congenital dysplasia of the hip" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "congenital hip dysplasia" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "dysplasia of acetabulum" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060930 {source="MONDO:equivalentTo"}
xref: EFO:1000648 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:755.63 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1640560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000082602 {source="MONDO:equivalentTo"}
xref: NCIT:C119752 {source="MONDO:otherHierarchy", source="EFO:1000648"}
xref: OMIMPS:142700 {source="MONDO:equivalentTo"}
xref: SCTID:52781008 {source="MONDO:equivalentTo"}
xref: UMLS:C4551649 {source="MEDGEN:1640560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005497 {source="EFO:1000648"} ! bone development disease
relationship: disease_has_major_feature HP:0001384 ! Abnormal hip joint morphology
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:142700"} ! inherited

[Term]
id: MONDO:0000159
name: bone marrow failure syndrome
comment: Genetic heterogeneity of OMIM 614675 includes 615715.
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:419754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536572 {source="MONDO:equivalentTo"}
xref: NCIT:C165614 {source="MONDO:equivalentTo"}
xref: OMIMPS:614675 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C2931245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419754"}
is_a: MONDO:0003225 {source="MESH:C536572/inferred"} ! bone marrow disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614675"} ! inherited

[Term]
id: MONDO:0000160
name: epilepsy, familial adult myoclonic
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0111689 {source="MONDO:equivalentTo"}
xref: OMIMPS:601068 {source="MONDO:equivalentTo"}
is_a: MONDO:0016022 ! early myoclonic encephalopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601068"} ! inherited

[Term]
id: MONDO:0000161
name: obsolete adrenal hyperplasia
synonym: "obsolete adrenal hyperplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete adrenal hyperplasia (disease)" xsd:string
is_obsolete: true

[Term]
id: MONDO:0000162
name: autoimmune thyroid disease, susceptibility to
subset: predisposition
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005623 ! autoimmune thyroid disease
relationship: excluded_subClassOf MONDO:0007699 {source="https://orcid.org/0000-0001-5208-3432"} ! Hashimoto thyroiditis

[Term]
id: MONDO:0000163
name: obsolete breast-ovarian cancer, familial, susceptibility to
subset: predisposition
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/6628" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100526

[Term]
id: MONDO:0000164
name: obsolete corneal dystrophy, Fuchs endothelial
is_obsolete: true
replaced_by: MONDO:0005321

[Term]
id: MONDO:0000165
name: obsolete ectodermal dysplasia-syndactyly syndrome
is_obsolete: true
replaced_by: MONDO:0013311

[Term]
id: MONDO:0000166
name: encephalopathy, acute, infection-induced
xref: OMIMPS:610551 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
is_a: MONDO:0005560 ! brain disorder
relationship: disease_arises_from_feature MONDO:0005550 ! infectious disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610551"} ! inherited
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000167
name: Huntington disease and related disorders
def: "A grouping for Huntington disease and similar diseases." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0024237 ! inherited neurodegenerative disorder

[Term]
id: MONDO:0000168
name: obsolete mental retardation, X-linked, nonsyndromic
is_obsolete: true
replaced_by: MONDO:0019181

[Term]
id: MONDO:0000169
name: microphthalmia, isolated, with cataract
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: microphthalmia, isolated, with cataract 1-MONDO:0007995
subset: obsoletion_candidate
xref: OMIMPS:156850 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0000062 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! isolated microphthalmia
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: disease_has_feature MONDO:0005129 ! cataract
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:156850"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7554" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7766" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0000170
name: microphthalmia, isolated, with coloboma
def: "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." [Orphanet:98938]
subset: gard_rare {source="GARD:3644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98938"}
subset: ordo_malformation_syndrome {source="Orphanet:98938"}
subset: orphanet_rare {source="Orphanet:98938"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colobomatous microphthalmia" EXACT [MONDO:0010303]
synonym: "MAC" EXACT ABBREVIATION [Orphanet:98938]
synonym: "MCOPCB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300345]
synonym: "microphthalmia associated with colobomatous cyst" RELATED [GARD:0003644]
synonym: "microphthalmia with colobomatous cyst" EXACT [Orphanet:98938]
synonym: "microphthalmia-anophthalmia-coloboma syndrome" EXACT [Orphanet:98938]
synonym: "microphthalmos bilateral, colobomatous orbital cyst" RELATED [GARD:0003644, MESH:C537463]
xref: GARD:3644 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:98938", source="Orphanet:98938/attributed", source="Orphanet:98938/ntbt"}
xref: MEDGEN:444071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537463 {source="MONDO:equivalentTo"}
xref: OMIMPS:300345 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="MONDO:equivalentTo", source="OMIM:300345"}
xref: UMLS:C2931500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444071"}
is_a: MONDO:0000062 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! isolated microphthalmia
is_a: MONDO:0001476 {source="MESH:C537463", source="MONDO:Redundant"} ! coloboma
is_a: MONDO:0016764 {source="Orphanet:98938"} ! isolated anophthalmia-microphthalmia syndrome
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: disease_has_feature MONDO:0001476 ! coloboma
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300345"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst" xsd:anyURI {source="GARD:0003644"}

[Term]
id: MONDO:0000171
name: muscular dystrophy-dystroglycanopathy, type A
subset: gard_rare {source="GARD:2599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:899"}
subset: orphanet_rare {source="Orphanet:899"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebroocular dysgenesis" RELATED [GARD:0002599]
synonym: "cerebroocular dysplasia muscular dystrophy syndrome" RELATED [GARD:0002599]
synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT [DOID:0050560]
synonym: "Chemke syndrome" RELATED [GARD:0002599]
synonym: "hard +/- E syndrome" RELATED [GARD:0002599]
synonym: "hard syndrome" EXACT [DOID:0050560, Orphanet:899]
synonym: "hydrocephalus, agyria and retinal dysplasia" RELATED [GARD:0002599]
synonym: "hydrocephalus-agyria-retinal dysplasia syndrome" EXACT [Orphanet:899]
synonym: "Pagon syndrome" RELATED [GARD:0002599]
synonym: "Walker-Warburg muscular dystrophy" EXACT [NCIT:C99109]
synonym: "Walker-Warburg syndrome" EXACT [MONDO:0019523]
synonym: "Warburg syndrome" RELATED [GARD:0002599]
synonym: "WWS" EXACT ABBREVIATION [Orphanet:899]
xref: DOID:0050560 {source="MONDO:equivalentTo"}
xref: GARD:2599 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:899/attributed", source="Orphanet:899/ntbt", source="Orphanet:899"}
xref: MEDGEN:75553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058494 {source="Orphanet:899", source="MONDO:equivalentTo", source="Orphanet:899/e"}
xref: NCIT:C99109 {source="MONDO:equivalentTo"}
xref: OMIMPS:236670 {source="MONDO:equivalentTo"}
xref: Orphanet:899 {source="MONDO:equivalentTo"}
xref: SCTID:111504002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75553"}
is_a: MONDO:0018276 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy
relationship: excluded_subClassOf MONDO:0016156 {source="Orphanet:899", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of FKRP
relationship: excluded_subClassOf MONDO:0016184 {source="Orphanet:899", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of protein O-mannosyltransferase 1
relationship: excluded_subClassOf MONDO:0016185 {source="Orphanet:899", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2
relationship: excluded_subClassOf MONDO:0018869 {source="https://orcid.org/0000-0001-5208-3432"} ! cobblestone lissencephaly
relationship: excluded_subClassOf MONDO:0020247 {source="Orphanet:899", source="https://orcid.org/0000-0001-5208-3432"} ! congenital vitreoretinal dysplasia
relationship: excluded_subClassOf MONDO:0700066 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy caused by variation in FKRP
relationship: excluded_subClassOf MONDO:0700068 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy caused by variation in POMGNT1
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:236670"} ! inherited

[Term]
id: MONDO:0000172
name: muscular dystrophy-dystroglycanopathy, type B
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0112375 {source="MONDO:equivalentTo"}
xref: OMIMPS:613155 {source="MONDO:equivalentTo"}
is_a: MONDO:0018276 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613155"} ! inherited

[Term]
id: MONDO:0000173
name: muscular dystrophy-dystroglycanopathy, type C
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: OMIMPS:609308 {source="MONDO:equivalentTo"}
is_a: MONDO:0018276 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609308"} ! inherited

[Term]
id: MONDO:0000174
name: obsolete split-hand/foot malformation with long bone deficiency
is_obsolete: true

[Term]
id: MONDO:0000175
name: obsolete ataxia-telangiectasia-like disorder
is_obsolete: true
replaced_by: MONDO:0011457

[Term]
id: MONDO:0000176
name: obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
is_obsolete: true
replaced_by: MONDO:0019375

[Term]
id: MONDO:0000177
name: obsolete laryngeal abductor paralysis
is_obsolete: true

[Term]
id: MONDO:0000178
name: obsolete breasts and/or nipples, aplasia or hypoplasia of
is_obsolete: true

[Term]
id: MONDO:0000179
name: Neu-Laxova syndrome
def: "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." [Orphanet:2671]
subset: gard_rare {source="GARD:102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2671"}
subset: ordo_malformation_syndrome {source="Orphanet:2671"}
subset: orphanet_rare {source="Orphanet:2671"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Neu Laxova syndrome" RELATED [GARD:0000102]
synonym: "NLS" RELATED ABBREVIATION [GARD:0000102]
synonym: "nuclear localization signal" EXACT [NCIT:C14089]
xref: GARD:102 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2671/attributed", source="Orphanet:2671/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536405 {source="MONDO:equivalentTo", source="Orphanet:2671/e"}
xref: NCIT:C14089 {source="MONDO:equivalentTo"}
xref: OMIMPS:256520 {source="MONDO:equivalentTo"}
xref: Orphanet:2671 {source="GARD:0000102", source="MONDO:equivalentTo", source="OMIM:256520"}
xref: SCTID:77817004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265218 {source="MEDGEN:78537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015148 {source="Orphanet:2671"} ! lissencephaly type 3
is_a: MONDO:0015159 {source="Orphanet:2671"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018491 {source="Orphanet:2671"} ! 3-phosphoglycerate dehydrogenase deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256520"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0000180
name: obsolete inflammatory skin and bowel disease, neonatal
is_obsolete: true
replaced_by: MONDO:0017411

[Term]
id: MONDO:0000181
name: microcephaly and chorioretinopathy
comment: Note that OMIM has two PS that appear to refer to the same thing
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:251270 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-5208-3432"} ! microcephaly
is_a: MONDO:0004674 ! chorioretinitis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:251270"} ! inherited

[Term]
id: MONDO:0000182
name: congenital myasthenic syndrome with tubular aggregates
def: "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers." [https://orcid.org/0000-0002-6601-2165, PMID:21975507]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS-TA" EXACT [PMID:21975507]
synonym: "myasthenic syndrome, congenital, with tubular aggregates" EXACT [OMIMPS:610542]
xref: OMIMPS:610542 {source="MONDO:equivalentTo"}
is_a: MONDO:0018940 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610542"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0000183
name: obsolete hypertrophic osteoarthropathy, primary
is_obsolete: true
replaced_by: MONDO:0016620

[Term]
id: MONDO:0000184
name: obsolete congenital vitamin K-dependent coagulation factors combined deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/400" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015722

[Term]
id: MONDO:0000185
name: obsolete polyposis syndrome, hereditary mixed
is_obsolete: true

[Term]
id: MONDO:0000186
name: obsolete spondyloepimetaphyseal dysplasia with joint laxity
is_obsolete: true
replaced_by: MONDO:0019675

[Term]
id: MONDO:0000187
name: obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome
is_obsolete: true
replaced_by: MONDO:0010004

[Term]
id: MONDO:0000188
name: GLUT1 deficiency syndrome
def: "An epileptic encephalopathy resulting from impaired glucose transport into the brain." [PMID:17718830]
comment: Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GLUT1 deficiency syndrome" EXACT CLINGEN_LABEL []
synonym: "GLUT1DS" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: MEDGEN:337833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200799 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:606777 {source="MONDO:equivalentTo"}
xref: UMLS:C1847501 {source="MONDO:equivalentTo", source="MEDGEN:337833", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
relationship: disease_has_basis_in_disruption_of GO:0005355 ! glucose transmembrane transporter activity
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:606777"} ! inherited

[Term]
id: MONDO:0000189
name: obsolete Schindler disease
is_obsolete: true

[Term]
id: MONDO:0000190
name: ventricular fibrillation
def: "A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)" [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fibrillation, ventricular" EXACT [NCIT:C50799]
synonym: "ventricular fibrillation" EXACT [MONDO:ambiguous]
synonym: "ventricular fibrillation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "VF" EXACT ABBREVIATION [NCIT:C50799]
synonym: "VFib" EXACT [NCIT:C50799]
xref: EFO:0004287 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001663 {source="MONDO:otherHierarchy"}
xref: ICD9:427.41 {source="EFO:0004287", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014693 {source="EFO:0004287", source="MONDO:equivalentTo"}
xref: NANDO:2100052 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200227 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50799 {source="EFO:0004287", source="MONDO:equivalentTo"}
xref: SCTID:71908006 {source="EFO:0004287", source="MONDO:equivalentTo"}
xref: UMLS:C0042510 {source="MEDGEN:21844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007263 {source="EFO:0004287", source="NCIT:C50799"} ! cardiac rhythm disease
property_value: IAO:0000589 "ventricular fibrillation (disease)" xsd:string

[Term]
id: MONDO:0000191
name: obsolete renal hypodysplasia/aplasia
is_obsolete: true

[Term]
id: MONDO:0000192
name: polyglucosan body myopathy
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: OMIMPS:615895 {source="MONDO:equivalentTo"}
is_a: MONDO:0005336 {source="https://orcid.org/0000-0002-6601-2165"} ! myopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:615895"} ! inherited

[Term]
id: MONDO:0000193
name: cortisone reductase deficiency
def: "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." [PMID:21325058]
subset: gard_rare {source="GARD:9882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168588"}
subset: ordo_malformation_syndrome {source="Orphanet:168588"}
subset: orphanet_rare {source="Orphanet:168588"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of" RELATED [GARD:0009882]
synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 1" EXACT [Orphanet:168588]
synonym: "CORTRD" EXACT ABBREVIATION [DOID:0090139]
synonym: "deficiency of (R)-20-hydroxysteroid dehydrogenase" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "deficiency of cortisone reductase" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "HSD 11B1 deficiency" NARROW [GARD:0009882]
synonym: "hyperandrogenism due to cortisone reductase deficiency" EXACT []
xref: DOID:0090139 {source="MONDO:equivalentTo"}
xref: GARD:9882 {source="MONDO:GARD"}
xref: ICD10CM:E25.8 {source="Orphanet:168588/attributed", source="Orphanet:168588/ntbt", source="Orphanet:168588"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536447 {source="MONDO:equivalentTo"}
xref: OMIMPS:604931 {source="MONDO:equivalentTo", source="DOID:0090139"}
xref: Orphanet:168588 {source="MONDO:equivalentTo"}
xref: SCTID:124138004 {source="MONDO:equivalentTo"}
xref: UMLS:C1291245 {source="MONDO:equivalentTo", source="MEDGEN:266223", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 {source="DOID:0090139", source="Orphanet:168588/inferred"} ! endocrine system disorder
is_a: MONDO:0015898 {source="Orphanet:168588"} ! adrenogenital syndrome
relationship: disease_disrupts GO:0003845 {source="PMID:21325058", source="https://orcid.org/0000-0002-6601-2165"} ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604931"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency" xsd:anyURI {source="GARD:0009882"}

[Term]
id: MONDO:0000194
name: obsolete Otofaciocervical syndrome
is_obsolete: true
replaced_by: MONDO:0008163

[Term]
id: MONDO:0000195
name: obsolete atrial standstill
is_obsolete: true
replaced_by: MONDO:0015281

[Term]
id: MONDO:0000196
name: obsolete ataxia-oculomotor apraxia
comment: Based on genetic heterogeneity of OMIM 208920.
is_obsolete: true

[Term]
id: MONDO:0000197
name: obsolete singleton-Merten syndrome
is_obsolete: true
replaced_by: MONDO:0008429

[Term]
id: MONDO:0000198
name: obsolete linear skin defects with multiple congenital anomalies
is_obsolete: true

[Term]
id: MONDO:0000199
name: obsolete familial adenomatous polyposis
is_obsolete: true
replaced_by: MONDO:0021055

[Term]
id: MONDO:0000200
name: Zimmermann-Laband syndrome
def: "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." [Orphanet:3473]
subset: gard_rare {source="GARD:385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3473"}
subset: ordo_malformation_syndrome {source="Orphanet:3473"}
subset: orphanet_rare {source="Orphanet:3473"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "fibromatosis gingival, hepatosplenomegaly other anomalies" RELATED [GARD:0000385]
synonym: "gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly" RELATED [GARD:0000385]
synonym: "gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome" EXACT [Orphanet:3473]
synonym: "Laband syndrome" EXACT [Orphanet:3473]
synonym: "Laband-Zimmermann syndrome" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "Zimmerman Laband syndrome" RELATED [GARD:0000385]
synonym: "Zimmermann-Laband syndrome 1" RELATED [MONDO:Lexical, OMIM:135500]
synonym: "Zimmermann-Laband syndrome type 1" EXACT [MONDORULE:1, OMIM:135500]
synonym: "ZLS" RELATED ABBREVIATION [GARD:0000385]
synonym: "ZLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135500]
xref: GARD:385 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3473/attributed", source="Orphanet:3473/ntbt", source="Orphanet:3473"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:208656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536725 {source="MONDO:equivalentTo"}
xref: OMIMPS:135500 {source="MONDO:equivalentTo"}
xref: Orphanet:3473 {source="MONDO:equivalentTo", source="OMIM:135500"}
xref: SCTID:699447001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796013 {source="MEDGEN:208656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:135500"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3473", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:3473", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:135500"} ! inherited

[Term]
id: MONDO:0000201
name: obsolete thyroid cancer, nonmedullary
is_obsolete: true
replaced_by: MONDO:0017896

[Term]
id: MONDO:0000202
name: obsolete Heimler syndrome
is_obsolete: true
consider: MONDO:0100259

[Term]
id: MONDO:0000203
name: obsolete Dehydrated hereditary stomatocytosis
is_obsolete: true
replaced_by: MONDO:0017910

[Term]
id: MONDO:0000204
name: obsolete skin creases, congenital symmetric circumferential
xref: OMIMPS:156610 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000205
name: obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia
is_obsolete: true

[Term]
id: MONDO:0000206
name: obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy
synonym: "obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL" EXACT []
is_obsolete: true

[Term]
id: MONDO:0000207
name: obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies
is_obsolete: true
replaced_by: MONDO:0014176

[Term]
id: MONDO:0000208
name: microcephaly, short stature, and impaired glucose metabolism 1
subset: gard_rare {source="GARD:18459", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microcephaly, short stature, and impaired glucose metabolism" RELATED [MONDO:Lexical, OMIM:616033]
synonym: "microcephaly, short stature, and impaired glucose metabolism 1" EXACT CLINGEN_LABEL [OMIM:616033]
synonym: "MSSGM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616033]
synonym: "MSSGM1" EXACT ABBREVIATION [OMIM:616033]
xref: GARD:18459 {source="MONDO:GARD"}
xref: MEDGEN:863434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616033 {source="MONDO:equivalentTo"}
xref: Orphanet:391408 {source="OMIM:616033"}
xref: UMLS:C4014997 {source="MEDGEN:863434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800450 {source="OMIM:616033"} ! microcephaly, short stature, and impaired glucose metabolism
relationship: excluded_subClassOf MONDO:0018320 {source="Orphanet:391408/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28403 {source="MONDO:mim2gene_medgen"} ! TRMT10A

[Term]
id: MONDO:0000209
name: prenatal-onset spinal muscular atrophy with congenital bone fractures
subset: gard_rare {source="GARD:17882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:486811"}
subset: orphanet_rare {source="Orphanet:486811"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SMABF" EXACT ABBREVIATION [Orphanet:486811]
synonym: "spinal muscular atrophy with congenital bone fractures" EXACT []
xref: GARD:17882 {source="MONDO:GARD"}
xref: MEDGEN:1798941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:616866 {source="MONDO:equivalentTo"}
xref: Orphanet:486811 {source="MONDO:equivalentTo"}
xref: UMLS:C5567518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798941"}
is_a: MONDO:0015168 {source="Orphanet:486811"} ! arthrogryposis multiplex congenita
is_a: MONDO:0024257 {source="Orphanet:486811"} ! hereditary motor neuron disease
relationship: disease_has_feature MONDO:0001516 {source="https://orcid.org/0000-0002-6601-2165"} ! spinal muscular atrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:616866"} ! inherited

[Term]
id: MONDO:0000210
name: thiopurine metabolic disease
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:419361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:610460 {source="MONDO:equivalentTo"}
xref: UMLS:C2931223 {source="MEDGEN:419361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610460"} ! inherited

[Term]
id: MONDO:0000211
name: striatal degeneration, autosomal dominant
def: "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." [Orphanet:228169]
comment: See genetic heterogeneity of OMIM 609161 smb.
subset: gard_rare {source="GARD:17146", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228169"}
subset: orphanet_rare {source="Orphanet:228169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADSD" EXACT ABBREVIATION [Orphanet:228169]
synonym: "autosomal dominant striatal neurodegeneration" EXACT [Orphanet:228169]
xref: GARD:17146 {source="MONDO:GARD"}
xref: MEDGEN:322971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563783 {source="MONDO:equivalentTo"}
xref: OMIMPS:609161 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:228169 {source="MONDO:equivalentTo"}
xref: UMLS:C1836694 {source="MEDGEN:322971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003122 {source="https://orcid.org/0000-0001-5208-3432"} ! striatonigral degeneration
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609161"} ! inherited

[Term]
id: MONDO:0000212
name: hypercalcemia, infantile
def: "A hypercalcemia disease that occurs between 28 days to one year of life." [MONDO:design_pattern]
subset: gard_rare {source="GARD:17374", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300547"}
subset: orphanet_rare {source="Orphanet:300547"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "autosomal recessive hypercalcemia, infantile" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive infantile hypercalcemia" EXACT [MONDO:0007749]
synonym: "familial infantile hypercalcemia with suppressed intact parathyroid hormone" EXACT [Orphanet:300547]
synonym: "hypercalcemia disease of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "hypercalcemia, idiopathic, of infancy" EXACT DEPRECATED [OMIM:143880]
synonym: "hypercalcemia, infantile" EXACT [OMIM:143880]
synonym: "hypercalcemia, infantile, autosomal recessive" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_recessive]
synonym: "idiopathic infantile hypercalcemia" EXACT DEPRECATED [NCIT:C129734]
synonym: "infantile hypercalcemia" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "infantile hypercalcemia disease" EXACT [MONDO:design_pattern]
synonym: "infantile onset hypercalcemia disease" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
xref: GARD:17374 {source="MONDO:GARD"}
xref: ICD10CM:E83.5 {source="Orphanet:300547", source="Orphanet:300547/attributed", source="Orphanet:300547/ntbt"}
xref: MEDGEN:1380840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562999 {source="MONDO:equivalentTo"}
xref: NCIT:C129734 {source="MONDO:equivalentTo"}
xref: OMIMPS:143880 {source="MONDO:equivalentTo"}
xref: Orphanet:300547 {source="MONDO:equivalentTo", source="OMIM:143880"}
xref: SCTID:276645004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:34225008 {source="MONDO:equivalentTo"}
xref: UMLS:C4329374 {source="MEDGEN:1380840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="NCIT:C129734", source="Orphanet:300547/inferred"} ! hereditary disease
is_a: MONDO:0005066 ! metabolic disease
intersection_of: MONDO:0001566 ! hypercalcemia disease
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_characteristic HP:0003593 ! Infantile onset
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:300547", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:143880"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2926" xsd:anyURI

[Term]
id: MONDO:0000213
name: autoimmune disease, multisystem, infantile-onset
xref: OMIMPS:615952 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:615952"} ! inherited

[Term]
id: MONDO:0000214
name: hypermanganesemia with dystonia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080535 {source="MONDO:equivalentTo"}
xref: MEDGEN:1632594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:613280 {source="MONDO:equivalentTo"}
xref: SCTID:768553002 {source="MONDO:equivalentTo"}
xref: UMLS:C4708509 {source="MEDGEN:1632594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613280"} ! inherited

[Term]
id: MONDO:0000215
name: obsolete epilepsy, familial focal, with variable foci
is_obsolete: true
replaced_by: MONDO:0020310

[Term]
id: MONDO:0000216
name: obsolete congenital bilateral aplasia of vas deferens
is_obsolete: true

[Term]
id: MONDO:0000217
name: obsolete Frontometaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0010593

[Term]
id: MONDO:0000218
name: obsolete preimplantation embryonic lethality
xref: OMIMPS:616814 {source="MONDO:obsoleteEquivalentObsolete", source="https://orcid.org/0000-0002-6601-2165"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5091" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7766" xsd:anyURI
is_obsolete: true
consider: HP:0032479

[Term]
id: MONDO:0000219
name: obsolete uncombable hair syndrome
is_obsolete: true
replaced_by: MONDO:0008621

[Term]
id: MONDO:0000220
name: obsolete anterior segment dysgenesis
is_obsolete: true
replaced_by: MONDO:0019503

[Term]
id: MONDO:0000221
name: obsolete cerebroretinal microangiopathy with calcifications and cysts
is_obsolete: true

[Term]
id: MONDO:0000222
name: seminal vesicle acute gonorrhea
def: "Acute form of gonococcal seminal vesiculitis." [MONDO:patterns/acute]
synonym: "acute gonococcal seminal vesiculitis" EXACT [MONDO:patterns/acute]
synonym: "gonococcal seminal vesiculitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:0050004 {source="MONDO:equivalentTo"}
xref: MEDGEN:509196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:301990003 {source="DOID:0050004"}
xref: SCTID:65049003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153194 {source="MEDGEN:509196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001027 {source="DOID:0050004", source="MONDO:Redundant"} ! gonococcal seminal vesiculitis
intersection_of: MONDO:0001027 ! gonococcal seminal vesiculitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000223
name: obsolete chikungunya
is_obsolete: true
replaced_by: MONDO:0017941

[Term]
id: MONDO:0000224
name: acquired carbohydrate metabolism disease
def: "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism." [https://orcid.org/0000-0002-6601-2165]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "carbohydrate metabolism disease" RELATED [DOID:0050013]
xref: DOID:0050013 {source="MONDO:equivalentObsolete"}
intersection_of: MONDO:0006504 ! acquired metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate metabolic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0000225
name: human monocytic ehrlichiosis
def: "A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages." [Wikipedia:Human_monocytotropic_ehrlichiosis]
subset: gard_rare {source="GARD:72", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1254"}
subset: rare
synonym: "ehrlichiosis chafeensis" RELATED [DOID:0050026]
synonym: "HME" RELATED ABBREVIATION [GARD:0000072]
synonym: "Human ehrlichial infection, human monocytic type" RELATED [GARD:0000072]
synonym: "human ehrlichiosis caused by Ehrlichia chaffeensis" RELATED []
synonym: "human ehrlichiosis due to Ehrlichia chaffeensis" EXACT []
synonym: "Human Monocytic Ehrlichiosis (HME)" EXACT [NORD:1254]
xref: DOID:0050026 {source="MONDO:equivalentTo"}
xref: GARD:72 {source="MONDO:GARD"}
xref: ICD9:082.41 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1826179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1254 {source="MONDO:NORD"}
xref: SCTID:359747000 {source="MONDO:equivalentTo"}
xref: UMLS:C3844799 {source="MEDGEN:1826179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016003 {source="DOID:0050026", source="MONDO:Redundant"} ! ehrlichiosis
intersection_of: MONDO:0016003 ! ehrlichiosis
intersection_of: disease_has_infectious_agent NCBITaxon:945 ! Ehrlichia chaffeensis
relationship: disease_has_location CL:0000766 {source="https://orcid.org/0000-0002-6601-2165"} ! myeloid leukocyte
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: transmitted_by NCBITaxon:29930 ! Ixodes pacificus
relationship: transmitted_by NCBITaxon:34613 ! Ixodes ricinus
relationship: transmitted_by NCBITaxon:6945 ! Ixodes scapularis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis" xsd:anyURI {source="GARD:0000072"}

[Term]
id: MONDO:0000226
name: mineral metabolism disease
subset: otar {source="MONDO:OTAR"}
synonym: "disease of mineral metabolism" EXACT []
synonym: "disorder of mineral metabolism" EXACT []
xref: EFO:0009556 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E83 {source="MONDO:equivalentTo"}
xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:275.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:45744005 {source="MONDO:equivalentTo"}
xref: UMLS:C0154260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509562"}
is_a: MONDO:0005066 {source="ICD10CM:E83", source="https://orcid.org/0000-0002-6601-2165"} ! metabolic disease

[Term]
id: MONDO:0000227
name: African tick-bite fever
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Rickettsia africae spotted fever" RELATED [DOID:0050035]
synonym: "South African tick-bite fever" RELATED [DOID:0050035]
xref: DOID:0050035 {source="MONDO:equivalentTo"}
xref: MEDGEN:728968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:415561000 {source="MONDO:equivalentTo"}
xref: UMLS:C1320317 {source="MEDGEN:728968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001195 {source="DOID:0050035", source="MONDO:Redundant"} ! spotted fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:35788 ! Rickettsia africae
relationship: transmitted_by NCBITaxon:6942 ! Amblyomma

[Term]
id: MONDO:0000228
name: obsolete Astrakhan spotted fever
is_obsolete: true
replaced_by: MONDO:0005677

[Term]
id: MONDO:0000229
name: Indian tick typhus
def: "An infectious disease caused by infection with rickettsia conorii subsp. coronorii." [PMID:18760001]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050042 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101335 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0343768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843392"}
is_a: MONDO:0001195 {source="DOID:0050042", source="MONDO:Redundant"} ! spotted fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:317865 ! Rickettsia conorii subsp. indica
relationship: transmitted_by NCBITaxon:34632 ! Rhipicephalus sanguineus

[Term]
id: MONDO:0000230
name: Israeli tick typhus
def: "An infectious disease caused by infection with rickettsia conorii subsp. israelensis." [PMID:18760001]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Israeli spotted fever" RELATED [DOID:0050043]
xref: DOID:0050043 {source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050043", source="MONDO:Redundant"} ! spotted fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:45258 ! Rickettsia conorii subsp. israelensis
relationship: transmitted_by NCBITaxon:34632 ! Rhipicephalus sanguineus

[Term]
id: MONDO:0000231
name: Far eastern spotted fever
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Rickettsia heilongjiangensis spotted fever" EXACT [DOID:0050046]
xref: DOID:0050046 {source="MONDO:equivalentTo"}
xref: MEDGEN:759467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:472822008 {source="MONDO:equivalentTo"}
xref: UMLS:C3532354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:759467"}
is_a: MONDO:0001195 {source="DOID:0050046", source="MONDO:Redundant"} ! spotted fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:226665 ! Rickettsia conorii subsp. heilongjiangensis
relationship: transmitted_by NCBITaxon:523089 ! Haemaphysalis concinna

[Term]
id: MONDO:0000232
name: Flinders island spotted fever
def: "A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy." [DOID:0050047, http://onlinelibrary.wiley.com/doi/10.1111/j.1749-6632.2003.tb07338.x/pdf, http://www.cdc.gov/otherspottedfever/index.html]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "FISF" RELATED ABBREVIATION [DOID:0050047]
synonym: "Thai tick typhus" EXACT [DOID:0050047]
xref: DOID:0050047 {source="MONDO:equivalentTo"}
xref: MEDGEN:1375989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4505102 {source="MEDGEN:1375989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001195 {source="DOID:0050047", source="MONDO:Redundant"} ! spotted fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:37816 ! Rickettsia honei
relationship: transmitted_by NCBITaxon:34607 ! Amblyomma cajennense

[Term]
id: MONDO:0000233
name: Japanese spotted fever
def: "A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities." [DOID:0050050, http://www.cdc.gov/otherspottedfever/index.html, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fever, Japanese spotted" RELATED [MESH:D000073605]
synonym: "fevers, Japanese spotted" RELATED [MESH:D000073605]
synonym: "Japanese spotted fever" EXACT [MESH:D000073605]
synonym: "Japanese spotted fevers" RELATED [MESH:D000073605]
synonym: "oriental spotted fever" RELATED [DOID:0050050]
synonym: "Rickettsia japonica spotted fever" EXACT [DOID:0050050]
synonym: "spotted fever, Japanese" RELATED [MESH:D000073605]
xref: DOID:0050050 {source="MONDO:equivalentTo"}
xref: MEDGEN:1371298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000073605 {source="UMLS:C2108396"}
xref: UMLS:C2108396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1371298"}
is_a: MONDO:0001195 {source="DOID:0050050", source="MONDO:Redundant"} ! spotted fever
intersection_of: MONDO:0001195 ! spotted fever
intersection_of: disease_has_infectious_agent NCBITaxon:35790 ! Rickettsia japonica
relationship: transmitted_by NCBITaxon:181088 ! Haemaphysalis flava
relationship: transmitted_by NCBITaxon:34619 ! Dermacentor

[Term]
id: MONDO:0000234
name: Rickettsia parkeri spotted fever
def: "A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash." [DOID:0050051, http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri, http://www.cdc.gov/otherspottedfever/index.html]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "maculatum infection" RELATED [DOID:0050051]
xref: DOID:0050051 {source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050051", source="MONDO:Redundant"} ! spotted fever
intersection_of: MONDO:0001195 ! spotted fever
intersection_of: disease_has_infectious_agent NCBITaxon:35792 ! Rickettsia parkeri
relationship: transmitted_by NCBITaxon:34609 ! Amblyomma maculatum

[Term]
id: MONDO:0000235
name: obsolete Rocky mountain spotted fever
is_obsolete: true
replaced_by: MONDO:0019359

[Term]
id: MONDO:0000236
name: oropharyngeal anthrax
def: "A anthrax infection that involves the oropharynx." [MONDO:patterns/location]
synonym: "oropharynx anthrax infection" EXACT [MONDO:patterns/location]
xref: DOID:0050059 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005119 ! anthrax infection
intersection_of: disease_has_location UBERON:0001729 ! oropharynx
relationship: disease_has_infectious_agent NCBITaxon:1392 ! Bacillus anthracis
relationship: excluded_subClassOf MONDO:0001701 {source="DOID:0050059", source="https://orcid.org/0000-0001-5208-3432"} ! gastrointestinal anthrax

[Term]
id: MONDO:0000237
name: obsolete erysipeloid
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006752

[Term]
id: MONDO:0000238
name: obsolete pestis minor
def: "OBSOLETE. A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis." [https://medical-dictionary.thefreedictionary.com/ambulatory+plague]
synonym: "abortive plague" RELATED []
synonym: "ambulatory plague" EXACT [https://medical-dictionary.thefreedictionary.com/ambulatory+plague]
synonym: "larval plague" RELATED [https://medical-dictionary.thefreedictionary.com/ambulatory+plague]
synonym: "pestis minor" EXACT [https://medical-dictionary.thefreedictionary.com/ambulatory+plague]
xref: DOID:0050068 {source="MONDO:obsoleteEquivalentObsolete"}
xref: ICD9:020.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: SCTID:186287003 {source="UMLS:C0275757", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000239
name: adiaspiromycosis
def: "Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens)." [https://doi.org/10.1016/j.rmedc.2011.04.004]
synonym: "adiaspiromycosis" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "adiaspirosis" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "haplosporangiosis" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pulmonary adiaspiromycosis" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050072 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:537148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000656784 {source="MONDO:equivalentTo"}
xref: SCTID:23892008 {source="MONDO:equivalentTo", source="UMLS:C0259737"}
xref: UMLS:C0259737 {source="MEDGEN:537148", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000308 {source="DOID:0050072"} ! primary systemic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:41283 ! Chrysosporium parvum
relationship: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0000240
name: invasive aspergillosis
def: "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage." [DOID:0050073, http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4, http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh, http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050073 {source="MONDO:equivalentTo"}
xref: MEDGEN:922866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:721798004 {source="MONDO:equivalentTo"}
xref: UMLS:C0238013 {source="MEDGEN:922866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005657 {source="DOID:0050073", source="MONDO:Redundant"} ! aspergillosis
relationship: disease_has_feature HP:0002090 ! Pneumonia
relationship: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0000241
name: Keshan disease
def: "A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus." [Wikipedia:Keshan_disease]
comment: The etiological mechanism of KD remains largely unclear, selenium and Coxsackie virus infection have been suggested to be highly involved in the pathogenesis of KD [PMID:33634251].
subset: gard_rare {source="GARD:8761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "caused by deficiency of selenium in the diet" RELATED EXCLUDE [GARD:0008761]
synonym: "congestive cardiomyopathy due to selenium deficiency" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "enlarged heart and poor heart function" RELATED [GARD:0008761]
xref: DOID:0050083 {source="MONDO:equivalentTo"}
xref: GARD:8761 {source="MONDO:GARD"}
xref: ICD9:269.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536166 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:46939000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268095 {source="MEDGEN:78639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004994 {source="MESH:C536166"} ! cardiomyopathy
is_a: MONDO:0005550 {source="EFO:0007226", source="MONDO:Redundant", source="MONDO:indirect"} ! infectious disease
is_a: MONDO:0005721 {source="PMID:33634251"} ! coxsackievirus infectious disease
is_a: MONDO:0006873 {source="DOID:0050083", source="MONDO:Redundant"} ! nutritional deficiency disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0006873 ! nutritional deficiency disease
intersection_of: disease_disrupts GO:0001887 ! selenium compound metabolic process
intersection_of: MONDO:0100332 NCBITaxon:12066 ! disease has primary infectious agent Coxsackievirus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3205" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8761/keshan-disease" xsd:anyURI {source="GARD:0008761"}

[Term]
id: MONDO:0000242
name: tinea barbae
def: "A dermatophytosis that involves the beard." [MONDO:patterns/location]
synonym: "beard dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "dermatophytosis of beard" EXACT [DOID:0050096]
xref: DOID:0050096 {source="MONDO:equivalentTo"}
xref: MEDGEN:748519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000656825 {source="MONDO:equivalentTo"}
xref: SCTID:399329002 {source="MONDO:equivalentTo"}
xref: UMLS:C2349994 {source="MEDGEN:748519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004678 {source="DOID:0050096", source="MONDO:Redundant"} ! dermatophytosis
intersection_of: MONDO:0004678 ! dermatophytosis
intersection_of: disease_has_location UBERON:0010167 ! beard
relationship: disease_has_infectious_agent NCBITaxon:523103 ! Trichophyton mentagrophytes
relationship: disease_has_infectious_agent NCBITaxon:63417 ! Trichophyton verrucosum

[Term]
id: MONDO:0000243
name: ectothrix infectious disease
def: "A dermatophyte infection of the hair that infects the hair surface." [Wikipedia:Exothrix]
xref: DOID:0050097 {source="MONDO:equivalentTo"}
is_a: MONDO:0004678 {source="DOID:0050097/inferred", source="Wikipedia:Exothrix"} ! dermatophytosis

[Term]
id: MONDO:0000244
name: endothrix infectious disease
def: "A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell." [Wikipedia:Endothrix]
xref: DOID:0050105 {source="MONDO:equivalentTo"}
is_a: MONDO:0004678 {source="DOID:0050105/inferred", source="Wikipedia:Endothrix"} ! dermatophytosis
relationship: disease_has_location UBERON:0002074 ! hair shaft

[Term]
id: MONDO:0000245
name: tinea imbricata
def: "A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." [DOID:0050116, http://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaImbricata]
xref: DOID:0050116 {source="MONDO:equivalentTo"}
xref: ICD10CM:B35.5 {source="MONDO:equivalentTo"}
xref: MEDGEN:508199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:240699006 {source="MONDO:equivalentTo"}
xref: UMLS:C0040255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508199"}
is_a: MONDO:0001461 {source="DOID:0050116"} ! tinea corporis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:63419 ! Trichophyton concentricum

[Term]
id: MONDO:0000246
name: obsolete la Crosse encephalitis
is_obsolete: true
replaced_by: MONDO:0019378

[Term]
id: MONDO:0000247
name: obsolete hemophagocytic lymphohistiocytosis
def: "OBSOLETE. A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." [NCIT:C34792]
is_obsolete: true
replaced_by: MONDO:0015540

[Term]
id: MONDO:0000248
name: dengue shock syndrome
def: "A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." [DOID:0050125, http://en.wikipedia.org/wiki/Dengue_shock_syndrome, http://wwwn.cdc.gov/travel/yellowbook/2010/chapter-5/dengue-fever-dengue-hemorrhagic-fever.aspx#1645]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DSS" EXACT ABBREVIATION [DOID:0050125]
xref: DOID:0050125 {source="MONDO:equivalentTo"}
xref: MEDGEN:83958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019595 {source="MONDO:equivalentTo"}
xref: SCTID:409671005 {source="MONDO:equivalentTo"}
xref: UMLS:C0376300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83958"}
is_a: MONDO:0005358 {source="https://orcid.org/0000-0002-6601-2165"} ! Dengue hemorrhagic fever
is_a: MONDO:0005502 {source="DOID:0050125", source="MONDO:Redundant"} ! dengue disease

[Term]
id: MONDO:0000249
name: secretory diarrhea
def: "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." [HP:0005208]
xref: DOID:0050129 {source="MONDO:equivalentTo"}
xref: HP:0005208 {source="MONDO:otherHierarchy"}
xref: MEDGEN:75635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:15699003 {source="MONDO:equivalentTo"}
xref: UMLS:C0267557 {source="MEDGEN:75635", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001673 {source="DOID:0050129", source="HP:0005208"} ! diarrheal disease

[Term]
id: MONDO:0000250
name: osmotic diarrheal disease
def: "A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption." [https://www.ncbi.nlm.nih.gov/books/NBK414/]
synonym: "osmotic diarrhea" EXACT []
synonym: "osmotic diarrhoea" EXACT OMO:0003005 []
synonym: "permeability diarrhea" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "permeability diarrhoea" EXACT OMO:0003005 []
xref: DOID:0050130 {source="MONDO:equivalentTo"}
xref: MEDGEN:540779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:2946003 {source="MONDO:equivalentTo", source="UMLS:C0267556"}
xref: UMLS:C0267556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540779"}
is_a: MONDO:0001673 {source="DOID:0050130"} ! diarrheal disease
is_a: MONDO:0045030 ! non-infectious diarrheal disease
relationship: disease_has_feature HP:0032485 ! Abnormal fecal osmolality

[Term]
id: MONDO:0000251
name: diarrheal disease secondary to altered bowel motility
def: "A diarrhea that results from either increased or decreased motility in the bowel." [https://www.ncbi.nlm.nih.gov/books/NBK414/]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "diarrhea secondary to altered bowel motility" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK414/]
synonym: "diarrhoea secondary to altered bowel motility" EXACT OMO:0003005 []
synonym: "motility-related diarrhea" EXACT []
synonym: "motility-related diarrhoea" EXACT OMO:0003005 []
is_a: MONDO:0001673 {source="DOID:0050131", source="MONDO:Redundant"} ! diarrheal disease
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: disease_arises_from_feature HP:0030895 ! Abnormal gastrointestinal motility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0000252
name: inflammatory diarrhea
def: "An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050132 {source="MONDO:equivalentTo"}
xref: MEDGEN:636702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95544006 {source="MONDO:equivalentTo"}
xref: UMLS:C0521604 {source="MEDGEN:636702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: disease_has_inflammation_site UBERON:0001242 ! intestinal mucosa

[Term]
id: MONDO:0000253
name: piedra
def: "Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species." [MESH:D010854]
synonym: "black piedra" NARROW [MESH:D010854]
synonym: "black Piedras" NARROW [MESH:D010854]
synonym: "hair shaft fungal infectious disease" EXACT [MONDO:patterns/location]
synonym: "piedra, black" NARROW [MESH:D010854]
synonym: "piedra, White" NARROW [MESH:D010854]
synonym: "Piedras" RELATED [MESH:D010854]
synonym: "Piedras, black" NARROW [MESH:D010854]
synonym: "Piedras, White" NARROW [MESH:D010854]
synonym: "steroid-modified tinea infection" NARROW [DOID:0050133]
synonym: "White piedra" NARROW [MESH:D010854]
synonym: "White Piedras" NARROW [MESH:D010854]
xref: MEDGEN:45923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010854 {source="MONDO:equivalentTo"}
xref: SCTID:402135006 {source="MONDO:equivalentTo"}
xref: UMLS:C0031898 {source="MEDGEN:45923", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="MESH:D010854", source="MONDO:Redundant"} ! fungal infectious disease
is_a: MONDO:0002917 {source="MESH:D010854", source="MONDO:Entailed", source="MONDO:Redundant"} ! disorder of pilosebaceous unit
is_a: MONDO:0024268 {source="MONDO:Redundant", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! superficial mycosis
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: disease_has_location UBERON:0002074 ! hair shaft
relationship: disease_has_location UBERON:0002027 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! stratum corneum of epidermis

[Term]
id: MONDO:0000254
name: cutaneous mycosis
def: "A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
xref: DOID:0050134 {source="MONDO:equivalentTo"}
xref: SCTID:14560005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002041 {source="DOID:0050134", source="MONDO:Redundant"} ! fungal infectious disease
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: disease_has_location UBERON:0002416 ! integumental system
relationship: has_characteristic MONDO:0045042 ! restricted to specific location

[Term]
id: MONDO:0000255
name: subcutaneous mycosis
def: "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
synonym: "subcutaneous mycosis" EXACT []
xref: DOID:0050135 {source="MONDO:equivalentTo"}
xref: ICD10CM:L00-L08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1684692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5230306 {source="MEDGEN:1684692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="DOID:0050135", source="MONDO:0000255/inferred", source="MONDO:Redundant"} ! fungal infectious disease
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: disease_has_location UBERON:0002072 ! hypodermis
relationship: has_characteristic MONDO:0045042 ! restricted to specific location

[Term]
id: MONDO:0000256
name: systemic mycosis
def: "A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
subset: otar {source="MONDO:OTAR"}
synonym: "systemic fungal infection" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050136 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:639956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:399314004 {source="MONDO:equivalentTo"}
xref: UMLS:C0553576 {source="MEDGEN:639956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="DOID:0050136", source="MONDO:Redundant"} ! fungal infectious disease
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0000257
name: acute diarrhea
def: "Acute form of diarrhea." [MONDO:patterns/acute]
subset: otar {source="MONDO:OTAR"}
synonym: "acute diarrheal disease" EXACT [MONDO:design_pattern]
synonym: "diarrhea (disease), acute" EXACT [MONDO:patterns/acute]
synonym: "diarrhea, acute" EXACT [MONDO:patterns/acute]
synonym: "diarrheal disease, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
synonym: "diarrhoea (disease), acute" EXACT OMO:0003005 []
xref: DOID:0050140 {source="MONDO:equivalentTo"}
xref: MEDGEN:677005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:409966000 {source="MONDO:equivalentTo"}
xref: UMLS:C0740441 {source="MEDGEN:677005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001673 {source="DOID:0050140", source="MONDO:Redundant"} ! diarrheal disease
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000258
name: obsolete intestinal botulism
is_obsolete: true
replaced_by: MONDO:0015805

[Term]
id: MONDO:0000259
name: asymptomatic dengue
subset: inferred_rare
subset: rare
xref: DOID:0050143 {source="MONDO:equivalentTo"}
is_a: MONDO:0005502 {source="https://orcid.org/0000-0001-5208-3432"} ! dengue disease

[Term]
id: MONDO:0000260
name: obsolete Kartagener syndrome
is_obsolete: true
replaced_by: MONDO:0016575

[Term]
id: MONDO:0000261
name: adenoiditis
def: "An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "chronic adenoiditis" NARROW [DOID:0050145]
synonym: "inflammation of pharyngeal tonsil" EXACT []
synonym: "pharyngeal tonsil inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pharyngeal tonsilitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:0050145 {source="MONDO:equivalentTo"}
xref: ICD10CM:J35.02 {source="DOID:0050145", source="MONDO:equivalentTo"}
xref: ICD9:474.01 {source="DOID:0050145"}
xref: MEDGEN:507401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:195794009 {source="DOID:0050145"}
xref: SCTID:232420002 {source="DOID:0050145"}
xref: SCTID:70020005 {source="MONDO:equivalentTo"}
xref: UMLS:C0001427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507401"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001732 ! pharyngeal tonsil

[Term]
id: MONDO:0000262
name: otomycosis
def: "Fungus infection of the external ear, usually by aspergillus species" [MESH:D059249]
synonym: "external ear fungal infectious disease" EXACT [MONDO:patterns/location]
synonym: "otitis mycotic externa" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "Singapore ear" RELATED [DOID:0050147]
xref: DOID:0050147 {source="MONDO:equivalentTo"}
xref: ICD9:111.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:452110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059249 {source="MONDO:equivalentTo"}
xref: SCTID:53316003 {source="MONDO:equivalentTo"}
xref: UMLS:C0029895 {source="MEDGEN:452110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="MESH:D059249", source="MONDO:Redundant"} ! fungal infectious disease
is_a: MONDO:0004795 {source="DOID:0050147"} ! otitis externa
is_a: MONDO:0005093 {source="DOID:0050147", source="MONDO:Redundant"} ! skin disorder
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0000263
name: laryngotracheitis
def: "An inflammation of both larynx and trachea." [MONDO:patterns]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050148 {source="MONDO:equivalentTo"}
xref: ICD10CM:J04 {source="DOID:0050148"}
xref: ICD10CM:J04.2 {source="DOID:0050148"}
xref: ICD10CM:J37.1 {source="DOID:0050148"}
xref: ICD9:464 {source="DOID:0050148"}
xref: ICD9:464.2 {source="DOID:0050148"}
xref: ICD9:476.1 {source="DOID:0050148"}
xref: MEDGEN:507907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155505008 {source="DOID:0050148"}
xref: SCTID:155508005 {source="DOID:0050148"}
xref: SCTID:195679003 {source="DOID:0050148"}
xref: SCTID:195694004 {source="DOID:0050148"}
xref: SCTID:195697006 {source="DOID:0050148"}
xref: SCTID:195703007 {source="DOID:0050148"}
xref: SCTID:276443001 {source="DOID:0050148"}
xref: SCTID:55130001 {source="UMLS:C0023076", source="MONDO:equivalentTo"}
xref: SCTID:64375000 {source="DOID:0050148"}
xref: SCTID:83271005 {source="DOID:0050148"}
xref: UMLS:C0023076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507907"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001737 ! larynx
intersection_of: disease_has_inflammation_site UBERON:0003126 ! trachea

[Term]
id: MONDO:0000264
name: obsolete Pontiac fever
is_obsolete: true
replaced_by: MONDO:0020487

[Term]
id: MONDO:0000265
name: aspiration pneumonia
def: "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract." [MESH:D011015]
synonym: "acid aspiration syndrome" EXACT [MESH:D011015]
synonym: "acid aspiration syndromes" EXACT [MESH:D011015]
synonym: "aspiration pneumonia" EXACT [MESH:D011015, MONDO:ambiguous]
synonym: "aspiration pneumonia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "aspiration Pneumonias" EXACT [MESH:D011015]
synonym: "gastric acid aspiration syndrome" EXACT [MESH:D011015]
synonym: "inhalation pneumonia" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "Mendelson syndrome" EXACT [MESH:D011015]
synonym: "Mendelson's syndrome" EXACT [MESH:D011015]
synonym: "Mendelsons syndrome" EXACT [MESH:D011015]
synonym: "Pneumonias, aspiration" EXACT [MESH:D011015]
synonym: "syndrome, acid aspiration" EXACT [MESH:D011015]
synonym: "syndrome, Mendelson" EXACT [MESH:D011015]
synonym: "syndrome, Mendelson's" EXACT [MESH:D011015]
synonym: "syndromes, acid aspiration" EXACT [MESH:D011015]
xref: DOID:0050152 {source="MONDO:equivalentTo"}
xref: HP:0011951 {source="MONDO:otherHierarchy"}
xref: ICD10CM:J69.0 {source="DOID:0050152"}
xref: MEDGEN:10814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011015 {source="MONDO:equivalentTo", source="DOID:0050152"}
xref: SCTID:422588002 {source="MONDO:equivalentTo", source="DOID:0050152"}
xref: SCTID:47839005 {source="DOID:0050152"}
xref: UMLS:C0032290 {source="MEDGEN:10814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! lung disorder
relationship: excluded_subClassOf MONDO:0005249 {source="DOID:0050152/inferred", source="MESH:D011015", source="https://orcid.org/0000-0001-5208-3432"} ! pneumonia
property_value: IAO:0000589 "aspiration pneumonia (disease)" xsd:string

[Term]
id: MONDO:0000266
name: pulmonary aspergilloma
def: "A aspergillosis that involves the lung." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung aspergillosis" EXACT [MONDO:patterns/location]
xref: DOID:0050153 {source="MONDO:equivalentTo"}
xref: EFO:1001834 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:390019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055732 {source="MONDO:equivalentTo"}
xref: UMLS:C2350529 {source="MEDGEN:390019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005657 ! aspergillosis
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0000267
name: obsolete cryptogenic organizing pneumonia
is_obsolete: true
replaced_by: MONDO:0015264

[Term]
id: MONDO:0000268
name: obsolete lymphoid interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0009537

[Term]
id: MONDO:0000269
name: obsolete inhalation anthrax
is_obsolete: true
replaced_by: MONDO:0016595

[Term]
id: MONDO:0000270
name: lower respiratory tract disorder
def: "A disease involving the lower respiratory tract." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of lower respiratory tract" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lower respiratory tract" EXACT []
synonym: "disorder of lower respiratory tract" EXACT [MONDO:patterns/location_top]
synonym: "lower respiratory tract disease" EXACT [MONDO:patterns/location]
synonym: "lower respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050161 {source="MONDO:equivalentTo"}
xref: EFO:0009433 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J20-J22 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J40-J47 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J85-J86 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:478.1 {source="DOID:0050161"}
xref: ICD9:478.19 {source="DOID:0050161"}
xref: MEDGEN:712703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:128272009 {source="MONDO:equivalentTo"}
xref: SCTID:195823002 {source="DOID:0050161"}
xref: SCTID:266346007 {source="DOID:0050161"}
xref: UMLS:C1290325 {source="MEDGEN:712703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="DOID:0050161", source="MONDO:Redundant"} ! respiratory system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001558 ! lower respiratory tract

[Term]
id: MONDO:0000271
name: tuberculous salpingitis
def: "An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube tuberculosis" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050166 {source="MONDO:equivalentTo"}
xref: ICD10CM:A18.17 {source="DOID:0050166"}
xref: ICD9:016.6 {source="DOID:0050166"}
xref: ICD9:016.60 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:546960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186242002 {source="DOID:0050166"}
xref: SCTID:186243007 {source="DOID:0050166"}
xref: SCTID:49558004 {source="MONDO:equivalentTo"}
xref: UMLS:C0275933 {source="MEDGEN:546960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003619 {source="MONDO:Redundant"} ! salpingitis
is_a: MONDO:0006002 {source="DOID:0050166", source="MONDO:Redundant"} ! urogenital tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_inflammation_site UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0000272
name: obsolete autoimmune polyendocrine syndrome type 2
is_obsolete: true
replaced_by: MONDO:0010012

[Term]
id: MONDO:0000273
name: Kunjin virus infectous disease
def: "A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy." [DOID:0050174]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Kunjin encephalitis" EXACT [DOID:0050174]
xref: DOID:0050174 {source="MONDO:equivalentTo"}
is_a: MONDO:0019376 {source="DOID:0050174"} ! West-Nile encephalitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11077 ! disease has primary infectious agent Kunjin virus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: transmitted_by NCBITaxon:162997 ! Culex annulirostris

[Term]
id: MONDO:0000274
name: obsolete tick-borne encephalitis
is_obsolete: true
replaced_by: MONDO:0017572

[Term]
id: MONDO:0000275
name: obsolete monogenic disease
def: "OBSOLETE. A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." [DO:wk\,ls, DOID:0050177]
xref: DOID:0050177 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1758" xsd:anyURI
is_obsolete: true
consider: MONDO:0003847

[Term]
id: MONDO:0000276
name: Powassan encephalitis
def: "A disease caused by infection with Powassan virus." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "encephalitis, powassan" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "powassan encephalitis virus infection" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Powassan virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Powassan virus disease or disorder" EXACT []
synonym: "Powassan virus infectious disease" EXACT []
xref: DOID:0050179 {source="MONDO:equivalentTo"}
xref: ICD9:063.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:416707008 {source="MONDO:equivalentTo"}
xref: UMLS:C0032858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18601"}
is_a: MONDO:0019956 {source="MONDO:Redundant"} ! encephalitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11083 ! disease has primary infectious agent Powassan virus
relationship: disease_has_inflammation_site UBERON:0000955 ! brain
relationship: transmitted_by NCBITaxon:6944 ! Ixodes

[Term]
id: MONDO:0000277
name: obsolete Argentine hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017874

[Term]
id: MONDO:0000278
name: obsolete Bolivian hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017875

[Term]
id: MONDO:0000279
name: obsolete Venezuelan hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017876

[Term]
id: MONDO:0000280
name: obsolete Brazilian hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017877

[Term]
id: MONDO:0000281
name: obsolete Chapare hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017878

[Term]
id: MONDO:0000282
name: Whitewater Arroyo hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations." [DOID:0050199, http://jama.ama-assn.org/cgi/content/full/284/10/1237, http://www.ncbi.nlm.nih.gov/sites/entrez/1799746]
xref: DOID:0050199 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="DOID:0050199", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:46919 ! disease has primary infectious agent
relationship: transmitted_by NCBITaxon:42408 ! Neotoma albigula

[Term]
id: MONDO:0000283
name: Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type
synonym: "Korean hemorrhagic fever" RELATED [DOID:0050200]
xref: DOID:0050200 {source="MONDO:equivalentTo"}
is_a: MONDO:0005784 {source="DOID:0050200", source="MONDO:Redundant"} ! hantavirus hemorrhagic fever with renal syndrome
intersection_of: MONDO:0005784 ! hantavirus hemorrhagic fever with renal syndrome
intersection_of: MONDO:0100332 NCBITaxon:1980490 ! disease has primary infectious agent
relationship: transmitted_by NCBITaxon:10116 ! Rattus norvegicus
relationship: transmitted_by NCBITaxon:39030 ! Apodemus agrarius

[Term]
id: MONDO:0000284
name: Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type
synonym: "nephropathia epidemica" RELATED [DOID:0050201]
synonym: "nephropathis epidemica" EXACT [Wikipedia:Hantavirus_hemorrhagic_fever_with_renal_syndrome]
xref: DOID:0050201 {source="MONDO:equivalentTo"}
xref: MEDGEN:69308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0242993 {source="MEDGEN:69308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005784 {source="DOID:0050201", source="MONDO:Redundant"} ! hantavirus hemorrhagic fever with renal syndrome
intersection_of: MONDO:0005784 ! hantavirus hemorrhagic fever with renal syndrome
intersection_of: MONDO:0100332 NCBITaxon:1980486 ! disease has primary infectious agent
relationship: disease_has_infectious_agent NCBITaxon:1980486
relationship: transmitted_by NCBITaxon:447135 ! Myodes glareolus

[Term]
id: MONDO:0000285
name: obsolete lujo hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017872

[Term]
id: MONDO:0000286
name: Epstein-Barr virus hepatitis
def: "A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice." [DOID:0050204, PMID:16711324, PMID:17602362]
xref: DOID:0050204 {source="MONDO:equivalentTo"}
xref: MEDGEN:640194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:302919001 {source="MONDO:equivalentTo"}
xref: UMLS:C0554114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:640194"}
is_a: MONDO:0005093 {source="DOID:0050204", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0006011 {source="DOID:0050204", source="MONDO:Redundant"} ! viral hepatitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002107 ! liver
intersection_of: MONDO:0100332 NCBITaxon:10376 ! disease has primary infectious agent human gammaherpesvirus 4

[Term]
id: MONDO:0000287
name: obsolete Lambert-Eaton myasthenic syndrome
is_obsolete: true
replaced_by: MONDO:0018556

[Term]
id: MONDO:0000288
name: polycystic echinococcosis
synonym: "human polycystic hydatid disease" EXACT [DOID:0050218, Wikipedia:Echinococcosis]
synonym: "neotropical echinococcosis" EXACT [DOID:0050218, Wikipedia:Echinococcosis]
xref: DOID:0050218 {source="MONDO:equivalentTo"}
is_a: MONDO:0005738 {source="DOID:0050218", source="MONDO:Redundant"} ! echinococcosis
intersection_of: MONDO:0005738 ! echinococcosis
intersection_of: disease_has_infectious_agent NCBITaxon:6213 ! Echinococcus vogeli
relationship: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0000289
name: obsolete selective IgM deficiency disease
is_obsolete: true
replaced_by: MONDO:0018039

[Term]
id: MONDO:0000290
name: primary amebic meningoencephalitis
def: "A infectious disease involving the Naegleria fowleri." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="GARD:9554", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "infections, Naegleria fowleri" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Naegleria fowleri infection" EXACT [DOID:0050242, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:0050242 {source="MONDO:equivalentTo"}
xref: GARD:9554 {source="MONDO:GARD"}
xref: MEDGEN:81253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535275 {source="MONDO:equivalentTo"}
xref: SCTID:721816008 {source="MONDO:equivalentTo"}
xref: UMLS:C0300934 {source="MEDGEN:81253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002428 {source="DOID:0050242", source="MESH:C535275/inferred"} ! protozoa infectious disease
is_a: MONDO:0019956 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! encephalitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5763 ! Naegleria fowleri
relationship: disease_has_infectious_agent NCBITaxon:5763 {source="MONDO:Wikidata"} ! Naegleria fowleri

[Term]
id: MONDO:0000291
name: granulomatous amebic encephalitis
def: "Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised people and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors." [https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis]
subset: gard_rare {source="GARD:12651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Acanthamoeba encephalitis" RELATED [DOID:0050246]
synonym: "Acanthamoeba granulomatous encephalitis" RELATED [DOID:0050246]
synonym: "granulomatous amebic encephalitis due to Acanthamoeba" RELATED [DOID:0050246]
synonym: "granulomatous amoebic encephalitis" EXACT [DOID:0050246]
xref: DOID:0050246 {source="MONDO:equivalentTo"}
xref: GARD:12651 {source="MONDO:GARD"}
xref: ICD9:323.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:572559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:230187000 {source="MONDO:equivalentTo"}
xref: UMLS:C0338428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:572559"}
is_a: MONDO:0002428 {source="DOID:0050246"} ! protozoa infectious disease
is_a: MONDO:0019956 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! encephalitis
relationship: disease_has_infectious_agent NCBITaxon:5754 {source="GARD:0012651"} ! Acanthamoeba
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis" xsd:anyURI {source="GARD:0012651"}

[Term]
id: MONDO:0000292
name: philophthalmiasis
def: "A disease caused by infection with Philophthalmus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Philophthalmus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Philophthalmus disease or disorder" EXACT []
synonym: "Philophthalmus infectious disease" EXACT []
xref: DOID:0050250 {source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="DOID:0050250", source="MONDO:Redundant"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:685953 ! Philophthalmus

[Term]
id: MONDO:0000293
name: coenurosis
def: "A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs." [Wikipedia:Coenurosis]
synonym: "caenurosis" EXACT [Wikipedia:Coenurosis]
synonym: "coenuriasis" EXACT []
synonym: "coenurosis" EXACT []
synonym: "infection by larvae of multiceps" RELATED []
synonym: "infection by tapeworm larva" RELATED []
synonym: "sturdy" RELATED [Wikipedia:Coenurosis]
xref: DOID:0050251 {source="MONDO:equivalentTo"}
xref: ICD9:123.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:24360007 {source="MONDO:equivalentTo"}
xref: UMLS:C0009225 {source="MEDGEN:3142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:0050251", source="MONDO:Redundant"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:0050251/inferred", source="MONDO:Redundant"} ! parasitic infectious disease
relationship: disease_has_infectious_agent NCBITaxon:6202 ! Taenia

[Term]
id: MONDO:0000294
name: mesocestoidiasis
def: "An disease or disorder caused by infection with Mesocestoides." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "infection by Mesocestoides" EXACT []
synonym: "infection caused by Mesocestoides" RELATED []
synonym: "Mesocestoides caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mesocestoides disease or disorder" EXACT []
synonym: "Mesocestoides infectious disease" EXACT []
xref: DOID:0050253 {source="MONDO:equivalentTo"}
xref: MEDGEN:547845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:85750001 {source="MONDO:equivalentTo"}
xref: UMLS:C0277108 {source="MONDO:equivalentTo", source="MEDGEN:547845", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:0050253"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:53467 ! Mesocestoides

[Term]
id: MONDO:0000295
name: acanthocephaliasis
def: "An disease or disorder caused by infection with Acanthocephala." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Acanthocephala caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Acanthocephala disease or disorder" EXACT []
synonym: "Acanthocephala infectious disease" EXACT []
synonym: "disease caused by Acanthocephala" EXACT []
synonym: "disease due to Acanthocephala" EXACT []
synonym: "infection by Acanthocephala" EXACT []
synonym: "infection by thorny-headed worm" EXACT []
xref: DOID:0050254 {source="MONDO:equivalentTo"}
xref: MEDGEN:548052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:105713003 {source="MONDO:equivalentTo"}
xref: UMLS:C0277331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:548052"}
is_a: MONDO:0004664 {source="DOID:0050254"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:0050254/inferred"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10232 ! Acanthocephala <thorny-headed worms>

[Term]
id: MONDO:0000296
name: obsolete angiostrongyliasis
is_obsolete: true
replaced_by: MONDO:0019143

[Term]
id: MONDO:0000297
name: baylisascariasis
def: "An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses." [NCIT:C128397]
synonym: "Baylisascaris procyonis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Baylisascaris procyonis disease or disorder" EXACT []
synonym: "Baylisascaris procyonis infectious disease" EXACT []
synonym: "raccoon roundworm infection" EXACT [NCIT:C128397]
xref: DOID:0050259 {source="MONDO:equivalentTo"}
xref: MEDGEN:547881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128397 {source="MONDO:equivalentTo"}
xref: UMLS:C0277150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547881"}
is_a: MONDO:0004664 {source="DOID:0050259"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:0050259/inferred", source="MONDO:Redundant", source="NCIT:C128397"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6259 ! Baylisascaris procyonis

[Term]
id: MONDO:0000298
name: dioctophymiasis
def: "A disease caused by infection with Dioctophyme renale." [MONDO:patterns/infectious_disease_by_agent]
synonym: "dioctophyma renale infection" RELATED []
synonym: "Dioctophyme renale caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dioctophyme renale disease or disorder" EXACT []
synonym: "Dioctophyme renale infection" EXACT []
synonym: "Dioctophyme renale infectious disease" EXACT []
synonym: "dioctophymosis" RELATED []
synonym: "giant kidney worm disease" RELATED []
xref: DOID:0050260 {source="MONDO:equivalentTo"}
xref: MEDGEN:4326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:40410004 {source="MONDO:equivalentTo"}
xref: UMLS:C0012482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4326"}
is_a: MONDO:0004664 {source="DOID:0050260"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:513045 ! Dioctophyme renale

[Term]
id: MONDO:0000299
name: thelaziasis
def: "A disease caused by infection with Thelazia." [MONDO:patterns/infectious_disease_by_agent]
synonym: "conjunctival spirurosis" RELATED []
synonym: "infection by Thelazia" EXACT []
synonym: "infection caused by Thelazia" RELATED []
synonym: "Thelazia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Thelazia disease or disorder" EXACT []
synonym: "Thelazia infectious disease" EXACT []
synonym: "thelaziasis" EXACT []
synonym: "thelaziosis" RELATED []
synonym: "verminous ophthalmia" RELATED []
xref: DOID:0050261 {source="MONDO:equivalentTo"}
xref: ICD9:128.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:576041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:46477004 {source="MONDO:equivalentTo"}
xref: UMLS:C0344058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576041"}
is_a: MONDO:0004664 {source="DOID:0050261"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:103826 ! Thelazia

[Term]
id: MONDO:0000300
name: obsolete tungiasis
is_obsolete: true
replaced_by: MONDO:0019498

[Term]
id: MONDO:0000301
name: ophthalmomyiasis
def: "An myiasis caused by infection with Oestrus ovis." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Oestrus ovis caused myiasis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oestrus ovis myiasis" EXACT []
synonym: "ophthalmic myiasis" EXACT []
synonym: "ophthalmomyiasis" EXACT []
xref: DOID:0050268 {source="MONDO:equivalentTo"}
xref: MEDGEN:507965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:48216006 {source="MONDO:equivalentTo"}
xref: UMLS:C0027034 {source="MEDGEN:507965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019147 {source="DOID:0050268", source="MONDO:Redundant"} ! myiasis
intersection_of: MONDO:0019147 ! myiasis
intersection_of: disease_has_infectious_agent NCBITaxon:123737 ! Oestrus ovis

[Term]
id: MONDO:0000302
name: basidiobolomycosis
def: "A disease caused by infection with Basidiobolus." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "basidiobolomycosis" EXACT [UMLS:C0343965]
synonym: "Basidiobolus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Basidiobolus disease or disorder" EXACT []
synonym: "Basidiobolus infectious disease" EXACT []
synonym: "infection by Basidiobolus" EXACT [UMLS:C0343965]
synonym: "infection caused by Basidiobolus" EXACT [UMLS:C0343965]
xref: DOID:0050278 {source="MONDO:equivalentTo"}
xref: MEDGEN:575966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:4921002 {source="MONDO:equivalentTo", source="UMLS:C0343965"}
xref: UMLS:C0343965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575966"}
is_a: MONDO:0019136 {source="Wikipedia:Basidiobolomycosis"} ! Zygomycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:4859 ! Basidiobolus
relationship: excluded_subClassOf MONDO:0000255 {source="DOID:0050278", source="https://orcid.org/0000-0001-5208-3432"} ! subcutaneous mycosis
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:0050278", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0000303
name: conidiobolomycosis
synonym: "Conidiobolus infectious disease" EXACT []
synonym: "infection by Conidiobolus" EXACT []
synonym: "rhinoentomophthoromycosis" RELATED []
xref: DOID:0050279 {source="MONDO:equivalentTo"}
xref: ICD9:111.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:547510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:240783007 {source="MONDO:equivalentTo"}
xref: UMLS:C0276712 {source="MEDGEN:547510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000255 {source="DOID:0050279", source="MONDO:Entailed", source="MONDO:Redundant"} ! subcutaneous mycosis
is_a: MONDO:0005093 {source="DOID:0050279", source="MONDO:Redundant"} ! skin disorder
intersection_of: MONDO:0000255 ! subcutaneous mycosis
intersection_of: disease_has_infectious_agent NCBITaxon:34487 ! Conidiobolus

[Term]
id: MONDO:0000304
name: penicilliosis
def: "A disease caused by infection with Talaromyces marneffei." [MONDO:patterns/infectious_disease_by_agent]
synonym: "infection caused by Penicillium marneffei" EXACT []
synonym: "infection caused by Talaromyces marneffei" EXACT []
synonym: "infection due to Penicillium marneffei" EXACT []
synonym: "Penicillium marneffei infectious disease" EXACT []
synonym: "Talaromyces marneffei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Talaromyces marneffei disease or disorder" EXACT []
synonym: "Talaromyces marneffei infectious disease" EXACT []
xref: DOID:0050288 {source="MONDO:equivalentTo"}
xref: MEDGEN:697372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:372936000 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:713315007 {source="MONDO:equivalentTo"}
xref: UMLS:C1274008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:697372"}
is_a: MONDO:0000256 {source="DOID:0050288/inferred"} ! systemic mycosis
is_a: MONDO:0002312 {source="DOID:0050288"} ! opportunistic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:37727 ! Talaromyces marneffei

[Term]
id: MONDO:0000305
name: obsolete fusariosis
is_obsolete: true
replaced_by: MONDO:0016426

[Term]
id: MONDO:0000306
name: trichosporonosis
def: "Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs." [MESH:D060586]
synonym: "Trichosporon caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichosporon disease or disorder" EXACT []
synonym: "Trichosporon infectious disease" EXACT []
xref: DOID:0050290 {source="MONDO:equivalentTo"}
xref: MEDGEN:452453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060586 {source="MONDO:equivalentTo"}
xref: SCTID:240761008 {source="MONDO:equivalentTo"}
xref: UMLS:C0343939 {source="MONDO:equivalentTo", source="MEDGEN:452453", source="MONDO:MEDGEN"}
is_a: MONDO:0000256 {source="DOID:0050290/inferred"} ! systemic mycosis
is_a: MONDO:0002312 {source="DOID:0050290"} ! opportunistic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5552 ! Trichosporon

[Term]
id: MONDO:0000307
name: parasitic Ichthyosporea infectious disease
def: "A disease caused by infection with Ichthyosporea." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Ichthyosporea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ichthyosporea disease or disorder" EXACT []
synonym: "Ichthyosporea infectious disease" EXACT []
xref: DOID:0050291 {source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="DOID:0050291"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:127916 ! Ichthyosporea

[Term]
id: MONDO:0000308
name: primary systemic mycosis
def: "A systemic mycosis that arises from infection in an immunologically normal host." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
xref: DOID:0050292 {source="MONDO:equivalentTo"}
is_a: MONDO:0000256 {source="DOID:0050292", source="MONDO:Redundant"} ! systemic mycosis
intersection_of: MONDO:0000256 ! systemic mycosis
intersection_of: has_characteristic MONDO:0045036 ! primary infectious
disjoint_from: MONDO:0002312 ! opportunistic mycosis
relationship: disease_has_infectious_agent NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0000309
name: aniseikonia
def: "A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." [MESH:D000839]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050304 {source="MONDO:equivalentTo"}
xref: EFO:1001266 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H52.32 {source="MONDO:equivalentTo"}
xref: ICD9:367.32 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000839 {source="MONDO:equivalentTo"}
xref: SCTID:16059006 {source="MONDO:equivalentTo"}
xref: UMLS:C0003078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1943"}
is_a: MONDO:0004892 {source="DOID:0050304", source="MESH:D000839"} ! refractive error

[Term]
id: MONDO:0000310
name: Alkhurma hemorrhagic fever
def: "A disease caused by infection with Alkhumra hemorrhagic fever virus." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Alkhumra hemorrhagic fever virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Alkhumra hemorrhagic fever virus disease or disorder" EXACT []
synonym: "Alkhumra hemorrhagic fever virus infectious disease" EXACT []
xref: DOID:0050308 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5230236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684673"}
is_a: MONDO:0017881 {source="DOID:0050308", source="MONDO:Redundant"} ! Kyasanur forest disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:172148 ! disease has primary infectious agent Alkhumra hemorrhagic fever virus
relationship: transmitted_by NCBITaxon:69826 ! Ornithodoros savignyi

[Term]
id: MONDO:0000311
name: obsolete congenital hypothyroidism
is_obsolete: true
replaced_by: MONDO:0018612

[Term]
id: MONDO:0000312
name: obsolete enlarged vestibular aqueduct
is_obsolete: true
replaced_by: MONDO:0023069

[Term]
id: MONDO:0000313
name: hypophosphatemia
def: "Lower than normal levels of phosphates in the circulating blood." [NCIT:C37977]
synonym: "hypophosphatemia" EXACT [MONDO:ambiguous]
synonym: "hypophosphatemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050336 {source="MONDO:equivalentTo"}
xref: HP:0002148 {source="MONDO:otherHierarchy"}
xref: MEDGEN:39327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017674 {source="MONDO:equivalentTo"}
xref: NCIT:C37977 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:4996001 {source="MONDO:equivalentTo"}
xref: UMLS:C0085682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39327"}
is_a: MONDO:0002319 {source="DOID:0050336", source="MESH:D017674", source="MONDO:Redundant"} ! phosphorus metabolism disease
intersection_of: MONDO:0002319 ! phosphorus metabolism disease
intersection_of: disease_has_feature HP:0002148 ! Hypophosphatemia
property_value: IAO:0000589 "hypophosphatemia (disease)" xsd:string

[Term]
id: MONDO:0000314
name: primary bacterial infectious disease
xref: DOID:0050338 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="DOID:0050338", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005113 ! bacterial infectious disease
intersection_of: has_characteristic MONDO:0045036 ! primary infectious

[Term]
id: MONDO:0000315
name: commensal bacterial infectious disease
def: "A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." [DOID:0050339, http://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false]
synonym: "opportunistic bacterial infectious disease" RELATED []
xref: DOID:0050339 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="DOID:0050339"} ! bacterial infectious disease

[Term]
id: MONDO:0000316
name: opportunistic bacterial infectious disease
xref: DOID:0050340 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="DOID:0050340", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005113 ! bacterial infectious disease
intersection_of: has_characteristic MONDO:0045035 ! opportunistic infectious

[Term]
id: MONDO:0000317
name: obsolete foodborne botulism
is_obsolete: true
replaced_by: MONDO:0016453

[Term]
id: MONDO:0000318
name: obsolete wound botulism
is_obsolete: true
replaced_by: MONDO:0015803

[Term]
id: MONDO:0000319
name: obsolete infant botulism
is_obsolete: true
replaced_by: MONDO:0015804

[Term]
id: MONDO:0000320
name: glandular tularemia
def: "A tularemia that involves the lymph node." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymph node tularemia" EXACT [MONDO:patterns/location]
xref: DOID:0050382 {source="MONDO:equivalentTo"}
xref: MEDGEN:546997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21857006 {source="MONDO:equivalentTo"}
xref: UMLS:C0275974 {source="MEDGEN:546997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004928 {source="MONDO:Redundant"} ! lymph node disorder
is_a: MONDO:0018077 {source="DOID:0050382", source="MONDO:Redundant"} ! tularemia
intersection_of: MONDO:0018077 ! tularemia
intersection_of: disease_has_location UBERON:0000029 ! lymph node

[Term]
id: MONDO:0000321
name: typhoidal tularemia
def: "A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss." [DOID:0050383, http://emedicine.medscape.com/article/230923-clinical]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050383 {source="MONDO:equivalentTo"}
xref: MEDGEN:633510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:398554008 {source="MONDO:equivalentTo"}
xref: UMLS:C0473876 {source="MEDGEN:633510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018077 {source="DOID:0050383"} ! tularemia
relationship: disease_has_feature HP:0001824 ! Weight loss

[Term]
id: MONDO:0000322
name: obsolete Carrion disease
def: "OBSOLETE. A disease caused by infection with Bartonella bacilliformis." [MONDO:patterns/infectious_disease_by_agent]
is_obsolete: true
replaced_by: MONDO:0018984

[Term]
id: MONDO:0000323
name: obsolete familial adenomatous polyposis
is_obsolete: true
replaced_by: MONDO:0008279

[Term]
id: MONDO:0000324
name: obsolete familial partial lipodystrophy
is_obsolete: true
replaced_by: MONDO:0020088

[Term]
id: MONDO:0000325
name: obsolete pachyonychia congenita
is_obsolete: true
replaced_by: MONDO:0016471

[Term]
id: MONDO:0000326
name: obsolete lissencephaly
is_obsolete: true
replaced_by: MONDO:0018838

[Term]
id: MONDO:0000327
name: Buruli ulcer disease
def: "A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Bairnsdale ulcer" EXACT [DOID:0050456]
synonym: "Buruli ulcer" EXACT [NCIT:C84604]
synonym: "Daintree ulcer" EXACT [DOID:0050456]
synonym: "Mossman ulcer" EXACT [DOID:0050456]
synonym: "Mycobacterium ulcerans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium ulcerans disease or disorder" EXACT []
synonym: "Mycobacterium ulcerans infectious disease" EXACT []
synonym: "Searl ulcer" EXACT [DOID:0050456]
synonym: "Searle's ulcer" EXACT [DOID:0050456]
xref: DOID:0050456 {source="MONDO:equivalentTo"}
xref: ICD10CM:A31.1 {source="DOID:0050456"}
xref: MEDGEN:43206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054312 {source="DOID:0050456", source="MONDO:equivalentTo"}
xref: NCIT:C84604 {source="DOID:0050456", source="MONDO:equivalentTo"}
xref: SCTID:15845006 {source="DOID:0050456", source="MONDO:equivalentTo"}
xref: SCTID:186343005 {source="DOID:0050456"}
xref: UMLS:C0085568 {source="MEDGEN:43206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:0050456"} ! primary bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1809 ! Mycobacterium ulcerans

[Term]
id: MONDO:0000328
name: hyperphosphatemia
def: "Abnormally high level of phosphate in the blood." [NCIT:P378]
synonym: "hyperphosphatemia" EXACT [MONDO:ambiguous]
synonym: "hyperphosphatemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050459 {source="MONDO:equivalentTo"}
xref: HP:0002905 {source="MONDO:otherHierarchy"}
xref: MEDGEN:39326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054559 {source="MONDO:equivalentTo", source="DOID:0050459"}
xref: NCIT:C113750 {source="MONDO:otherHierarchy", source="DOID:0050459"}
xref: SCTID:20165001 {source="MONDO:equivalentTo", source="DOID:0050459"}
xref: UMLS:C0085681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39326"}
is_a: MONDO:0002319 {source="DOID:0050459", source="MESH:D054559", source="MONDO:Redundant"} ! phosphorus metabolism disease
intersection_of: MONDO:0002319 ! phosphorus metabolism disease
intersection_of: disease_has_feature HP:0002905 ! Hyperphosphatemia
property_value: IAO:0000589 "hyperphosphatemia (disease)" xsd:string

[Term]
id: MONDO:0000329
name: obsolete epidemic typhus
is_obsolete: true
replaced_by: MONDO:0019362

[Term]
id: MONDO:0000330
name: endemic typhus
def: "A bacterial infection caused by Rickettsia typhi." [https://www.cdc.gov/typhus/murine/index.html, Wikipedia:Murine_typhus]
subset: gard_rare {source="GARD:19033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83315"}
subset: orphanet_rare {source="Orphanet:83315"}
subset: rare
synonym: "cat flea rickettsiosis" EXACT [DOID:0050481]
synonym: "endemic flea-borne typhus" EXACT [NCIT:C84688]
synonym: "endemic typhus fever" EXACT [NCIT:C84688]
synonym: "fleaborne typhus" EXACT [DOID:0050481]
synonym: "murine typhus" EXACT [DOID:0050481, Wikipedia:Murine_typhus]
synonym: "rat-flea typhus" EXACT [DOID:0050481]
synonym: "Rickettsia felis spotted fever" EXACT [DOID:0050481]
synonym: "shop typhus" RELATED [DOID:0050481]
synonym: "toulon typhus" EXACT [DOID:0050481]
synonym: "urban typhus" EXACT [DOID:0050481]
synonym: "urban typhus of Malaya" EXACT [DOID:0050481]
xref: DOID:0050481 {source="MONDO:equivalentTo"}
xref: GARD:19033 {source="MONDO:GARD"}
xref: ICD10CM:A75.2 {source="Orphanet:83315", source="Orphanet:83315/e"}
xref: icd11.foundation:4659958 {source="MONDO:equivalentTo", source="Orphanet:83315", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10028282 {source="Orphanet:83315", source="Orphanet:83315/e"}
xref: MEDGEN:11977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014437 {source="MONDO:equivalentTo"}
xref: NCIT:C84688 {source="MONDO:equivalentTo"}
xref: Orphanet:83315 {source="MONDO:equivalentTo"}
xref: UMLS:C0041472 {source="MEDGEN:11977", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001246 {source="DOID:0050481", source="MONDO:Redundant", source="Orphanet:83315"} ! typhus
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:785 ! Rickettsia typhi
intersection_of: transmitted_by NCBITaxon:163159 ! Xenopsylla cheopis
relationship: disease_has_infectious_agent NCBITaxon:785 {source="MONDO:Wikidata"} ! Rickettsia typhi

[Term]
id: MONDO:0000331
name: Rickettsia helvetica spotted fever
def: "A disease caused by infection with Rickettsia helvetica." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "aneruptive fever" EXACT [DOID:0050484, https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis]
synonym: "Rickettsia helvetica aneruptive fever" EXACT [https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis]
synonym: "Rickettsia helvetica caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rickettsia helvetica disease or disorder" EXACT []
synonym: "Rickettsia helvetica infectious disease" EXACT []
xref: DOID:0050484 {source="MONDO:equivalentTo"}
is_a: MONDO:0001195 {source="DOID:0050484", source="https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis"} ! spotted fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:35789 ! Rickettsia helvetica
relationship: transmitted_by NCBITaxon:6944 {source="https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis"} ! Ixodes

[Term]
id: MONDO:0000332
name: sennetsu fever
def: "A disease caused by infection with Neorickettsia sennetsu." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="GARD:120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1703"}
subset: rare
synonym: "Human Ehrlichial infection, sennetsu type" RELATED [GARD:0000120, MESH:C537582]
synonym: "Neorickettsia sennetsu caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neorickettsia sennetsu disease or disorder" EXACT []
synonym: "Neorickettsia sennetsu infectious disease" EXACT []
synonym: "sennetsu ehrlichiosis" RELATED [DOID:0050485, Wikipedia:Neorickettsia_sennetsu]
synonym: "sennetsu fever" EXACT [https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis]
xref: DOID:0050485 {source="MONDO:equivalentTo"}
xref: GARD:120 {source="MONDO:GARD"}
xref: ICD9:088.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:105459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537582 {source="MONDO:equivalentTo"}
xref: NORD:1703 {source="MONDO:NORD"}
xref: SCTID:21013006 {source="MONDO:equivalentTo"}
xref: UMLS:C0520779 {source="MEDGEN:105459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:0050485", source="MONDO:Redundant"} ! primary bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:951 ! Neorickettsia sennetsu
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0016003 {source="MESH:C537582", source="https://orcid.org/0000-0001-5208-3432"} ! ehrlichiosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever" xsd:anyURI {source="GARD:0000120"}

[Term]
id: MONDO:0000333
name: early congenital syphilis
def: "A congenital syphilis that is manifested between 0 and 2 years old." [Wikipedia:Congenital_syphilis#Early]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Early congenital syphilis (less than 2 years)" BROAD [UMLS:C0275859]
xref: DOID:0050488 {source="MONDO:equivalentTo"}
xref: ICD9:090.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:546894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:4359001 {source="UMLS:C0275859", source="MONDO:equivalentTo"}
xref: UMLS:C0275859 {source="MEDGEN:546894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005714 {source="DOID:0050488"} ! congenital syphilis
relationship: disease_has_feature HP:0000238 ! Hydrocephalus
relationship: disease_has_feature HP:0001249 ! Intellectual disability
relationship: disease_has_feature HP:0001250 ! Seizure
relationship: disease_has_feature HP:0001287 ! Meningitis
relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly
relationship: disease_has_feature HP:0001508 ! Failure to thrive
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0000334
name: multinodular goiter
def: "Nodular goiter characterized by more than one discrete tissue mass." [NCIT:C131438]
subset: otar {source="MONDO:OTAR"}
synonym: "goiter, multinodular" EXACT [OMIMPS:138800]
xref: DOID:0050489 {source="MONDO:equivalentTo"}
xref: MEDGEN:87431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131438 {source="MONDO:equivalentTo"}
xref: OMIMPS:138800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:276399 {source="DOID:0050489"}
xref: SCTID:237570007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87431"}
is_a: MONDO:0006869 {source="NCIT:C131438"} ! nodular goiter
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:138800"} ! inherited

[Term]
id: MONDO:0000335
name: parenchymatous neurosyphilis
def: "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy." [DOID:0050490, http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050490 {source="MONDO:equivalentTo"}
is_a: MONDO:0004944 {source="DOID:0050490"} ! neurosyphilis
relationship: disease_has_feature HP:0000737 ! Irritability
relationship: disease_has_feature HP:0001254 ! Lethargy
relationship: disease_has_feature MONDO:0013600 ! insomnia

[Term]
id: MONDO:0000336
name: meningovascular neurosyphilis
def: "A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries." [DOID:0050491, http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050491 {source="MONDO:equivalentTo"}
is_a: MONDO:0004944 {source="DOID:0050491"} ! neurosyphilis
relationship: disease_has_feature HP:0000622 ! Blurred vision
relationship: disease_has_feature HP:0001324 ! Muscle weakness
relationship: disease_has_feature HP:0001977 ! Abnormal thrombosis
relationship: disease_has_feature HP:0002354 ! Memory impairment
relationship: disease_has_feature HP:0002607 ! Bowel incontinence
relationship: disease_has_feature HP:0003470 ! Paralysis
relationship: disease_has_feature HP:0003677 ! Slowly progressive
relationship: disease_has_feature MONDO:0013600 ! insomnia

[Term]
id: MONDO:0000337
name: exanthema subitum
def: "An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk." [NCIT:C128420]
subset: otar {source="MONDO:OTAR"}
synonym: "exanthem subitum" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK448190/, NCIT:C128420]
synonym: "pseudorubella" RELATED []
synonym: "roseola" EXACT [NCIT:C128420]
synonym: "roseola Infantum" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/]
synonym: "sixth disease" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/]
xref: DOID:0050495 {source="MONDO:equivalentTo"}
xref: EFO:1001320 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B08.2 {source="DOID:0050495"}
xref: ICD10CM:B08.20 {source="DOID:0050495"}
xref: ICD9:057.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:058.1 {source="DOID:0050495"}
xref: ICD9:058.10 {source="DOID:0050495"}
xref: MEDGEN:41909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005077 {source="DOID:0050495", source="MONDO:equivalentTo"}
xref: NCIT:C128420 {source="MONDO:equivalentTo"}
xref: SCTID:154343004 {source="DOID:0050495"}
xref: SCTID:154344005 {source="DOID:0050495"}
xref: SCTID:240559001 {source="DOID:0050495"}
xref: SCTID:266192003 {source="DOID:0050495"}
xref: SCTID:266193008 {source="DOID:0050495"}
xref: SCTID:402902002 {source="DOID:0050495"}
xref: SCTID:54385001 {source="DOID:0050495", source="MONDO:equivalentTo"}
xref: UMLS:C0015231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41909"}
is_a: MONDO:0005108 {source="DOID:0050495", source="EFO:1001320", source="MESH:D005077/inferred", source="MONDO:Redundant", source="NCIT:C128420"} ! viral infectious disease
is_a: MONDO:0006547 {source="MESH:D005077", source="https://orcid.org/0000-0002-6601-2165"} ! exanthem
relationship: disease_has_infectious_agent NCBITaxon:10368 {source="MONDO:Wikidata"} ! Human betaherpesvirus 6
relationship: disease_has_infectious_agent NCBITaxon:10372 {source="NCIT:C128420"} ! Human betaherpesvirus 7

[Term]
id: MONDO:0000338
name: variola major infectious disease
synonym: "variola major" BROAD []
xref: DOID:0050508 {source="MONDO:equivalentTo"}
xref: ICD9:050.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0050508"}
xref: MEDGEN:740750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154344005 {source="DOID:0050508"}
xref: SCTID:266193008 {source="DOID:0050508"}
xref: SCTID:47452006 {source="MONDO:equivalentTo", source="DOID:0050508"}
xref: UMLS:C1812609 {source="MEDGEN:740750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004651 {source="DOID:0050508", source="MONDO:Redundant"} ! smallpox
is_a: MONDO:0006547 {source="https://orcid.org/0000-0002-6601-2165"} ! exanthem
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12870 ! disease has primary infectious agent Variola major virus

[Term]
id: MONDO:0000339
name: spinal polio
def: "A paralytic poliomyelitis in which the site of paralysis is the spinal cord." [http://en.wikipedia.org/wiki/Poliomyelitis]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050513 {source="MONDO:equivalentTo"}
is_a: MONDO:0000341 {source="DOID:0050513"} ! paralytic poliomyelitis
relationship: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0000340
name: bulbospinal polio
def: "A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract." [http://en.wikipedia.org/wiki/Poliomyelitis]
comment: Editor note: TODO align with anatomy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050514 {source="MONDO:equivalentTo"}
is_a: MONDO:0000341 {source="DOID:0050514"} ! paralytic poliomyelitis

[Term]
id: MONDO:0000341
name: paralytic poliomyelitis
def: "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis." [DOID:0050515, http://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html, http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0050515 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1405301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684656"}
is_a: MONDO:0017373 {source="DOID:0050515", source="MONDO:Redundant"} ! poliomyelitis
intersection_of: MONDO:0017373 ! poliomyelitis
intersection_of: disease_has_feature HP:0003470 ! Paralysis
disjoint_from: MONDO:0003231 ! acute nonparalytic poliomyelitis

[Term]
id: MONDO:0000342
name: O'nyong'nyong fever
def: "An disease or disorder caused by infection with O'nyong-nyong virus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "O'nyong-nyong virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "O'nyong-nyong virus disease or disorder" EXACT []
synonym: "O'nyong-nyong virus infectious disease" EXACT []
xref: DOID:0050516 {source="MONDO:equivalentTo"}
xref: ICD10CM:A92.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:547234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:85579005 {source="MONDO:equivalentTo", source="UMLS:C0276286"}
xref: UMLS:C0276286 {source="MEDGEN:547234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:0050516", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:2169701 ! disease has primary infectious agent Onyong-nyong virus
relationship: disease_has_feature HP:0000988 {source="MONDO:Wikidata"} ! Skin rash
relationship: disease_has_feature MONDO:0006547 {source="MONDO:Wikidata"} ! exanthem
relationship: disease_has_infectious_agent NCBITaxon:2169701 {source="MONDO:Wikidata"} ! Onyong-nyong virus
relationship: transmitted_by NCBITaxon:62324 ! Anopheles funestus
relationship: transmitted_by NCBITaxon:7165 ! Anopheles gambiae

[Term]
id: MONDO:0000343
name: Barmah forest virus disease
def: "A disease caused by infection with Barmah Forest virus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Barmah Forest virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Barmah Forest virus disease or disorder" EXACT []
synonym: "Barmah Forest virus infectious disease" EXACT []
xref: DOID:0050517 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="DOID:0050517", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11020 ! disease has primary infectious agent Barmah Forest virus

[Term]
id: MONDO:0000344
name: Ross river fever
def: "A disease caused by infection with Ross River virus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Ross River virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ross River virus disease" EXACT [DOID:0050518, MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ross River virus disease or disorder" EXACT []
synonym: "Ross River virus infectious disease" EXACT []
xref: DOID:0050518 {source="MONDO:equivalentTo"}
xref: MEDGEN:1673033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:602001 {source="MONDO:equivalentTo"}
xref: UMLS:C0919833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673033"}
is_a: MONDO:0005108 {source="DOID:0050518", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11029 ! disease has primary infectious agent Ross River virus
relationship: transmitted_by NCBITaxon:7174 ! Culex <genus>

[Term]
id: MONDO:0000345
name: Oropouche fever
def: "A disease caused by infection with Oropouche virus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Oropouche virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oropouche virus disease or disorder" EXACT []
synonym: "Oropouche virus infectious disease" EXACT []
xref: DOID:0050521 {source="MONDO:equivalentTo"}
xref: MEDGEN:547314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:72880002 {source="MONDO:equivalentTo", source="UMLS:C0276386"}
xref: UMLS:C0276386 {source="MEDGEN:547314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:0050521", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:118655 ! disease has primary infectious agent Oropouche virus
relationship: transmitted_by NCBITaxon:41820 ! Culicoides <genus>

[Term]
id: MONDO:0000346
name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type
synonym: "Balkan hemorrhagic fever" EXACT [Wikipedia:Hantavirus_hemorrhagic_fever_with_renal_syndrome]
xref: DOID:0050522 {source="MONDO:equivalentTo"}
is_a: MONDO:0005784 {source="DOID:0050522", source="MONDO:Entailed", source="MONDO:Redundant"} ! hantavirus hemorrhagic fever with renal syndrome
intersection_of: MONDO:0005784 ! hantavirus hemorrhagic fever with renal syndrome
intersection_of: MONDO:0100332 NCBITaxon:1980467 ! disease has primary infectious agent
relationship: transmitted_by NCBITaxon:54292 ! Apodemus flavicollis

[Term]
id: MONDO:0000347
name: obsolete adult T-cell leukemia/lymphoma
is_obsolete: true
replaced_by: MONDO:0019471

[Term]
id: MONDO:0000348
name: obsolete posterior polar cataract
synonym: "cataract, posterior polar" EXACT [DOID:0050537]
synonym: "obsolete posterior polar cataract (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050537 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000589 "obsolete posterior polar cataract (disease)" xsd:string
is_obsolete: true
replaced_by: HP:0001115

[Term]
id: MONDO:0000349
name: obsolete Charcot-Marie-Tooth disease type 1
is_obsolete: true
replaced_by: MONDO:0019011

[Term]
id: MONDO:0000350
name: obsolete Charcot-Marie-Tooth disease intermediate type
is_obsolete: true
replaced_by: MONDO:0018778

[Term]
id: MONDO:0000351
name: disorder of methionine catabolism
def: "An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypermethioninemia" EXACT [MONDO:ambiguous]
synonym: "inborn error of methionine catabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn methionine catabolic process disorder" EXACT []
synonym: "rare inborn error of methionine catabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0050544 {source="MONDO:equivalentTo"}
xref: HP:0003235 {source="MONDO:otherHierarchy"}
xref: MEDGEN:887708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200475 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:43123004 {source="MONDO:equivalentTo"}
xref: UMLS:C4048705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:887708"}
is_a: MONDO:0004736 {source="DOID:0050544"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019222 {source="MONDO:Redundant"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0009087 ! methionine catabolic process

[Term]
id: MONDO:0000352
name: obsolete hereditary sensory neuropathy
is_obsolete: true
replaced_by: MONDO:0015364

[Term]
id: MONDO:0000353
name: obsolete Saldino-Noonan syndrome
is_obsolete: true
replaced_by: MONDO:0019663

[Term]
id: MONDO:0000354
name: obsolete JMP syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1271" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017959

[Term]
id: MONDO:0000355
name: Ullrich congenital muscular dystrophy
def: "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." [Orphanet:75840]
subset: gard_rare {source="GARD:4769", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75840"}
subset: orphanet_rare {source="Orphanet:75840"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy, Ullrich type" RELATED [Orphanet:75840]
synonym: "late onset scleroatonic familial myopathy (subtype)" RELATED [GARD:0004769]
synonym: "scleroatonic muscular dystrophy" EXACT [Orphanet:75840]
synonym: "scleroatonic Ullrich disease" EXACT [NCIT:C123438]
synonym: "UCMD" EXACT ABBREVIATION [GARD:0004769, Orphanet:75840]
synonym: "Ullrich disease" RELATED [DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/]
synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [DOID:0050558]
xref: DOID:0050558 {source="MONDO:equivalentTo"}
xref: GARD:4769 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:75840/attributed", source="Orphanet:75840/ntbt", source="Orphanet:75840"}
xref: MEDGEN:1642667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537521 {source="MONDO:equivalentTo"}
xref: NANDO:1200215 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200862 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123438 {source="MONDO:equivalentTo"}
xref: OMIMPS:254090 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:75840 {source="GARD:0004769", source="MONDO:equivalentTo", source="OMIM:254090"}
xref: SCTID:240062007 {source="MONDO:equivalentTo"}
xref: UMLS:C4551860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642667"}
is_a: MONDO:0019950 {source="DOID:0050558", source="Orphanet:75840"} ! congenital muscular dystrophy
is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-0736-9199"} ! congenital myopathy
is_a: MONDO:0020121 {source="DOID:0050558/inferred", source="MONDO:Redundant", source="NCIT:C123438", source="Orphanet:75840/inferred"} ! muscular dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:254090"} ! inherited

[Term]
id: MONDO:0000356
name: obsolete Walker-Warburg syndrome
is_obsolete: true
replaced_by: MONDO:0019523

[Term]
id: MONDO:0000357
name: obsolete West syndrome
is_obsolete: true
replaced_by: MONDO:0018097

[Term]
id: MONDO:0000358
name: orofacial cleft
comment: Editor notes: most subtypes are isolated
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050567 {source="MONDO:equivalentTo"}
xref: MEDGEN:472000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:119530 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:449790007 {source="MONDO:equivalentTo"}
xref: UMLS:C3266076 {source="MONDO:equivalentTo", source="MEDGEN:472000", source="MONDO:MEDGEN"}
is_a: MONDO:0023369 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of facial skeleton
relationship: disease_has_basis_in_development_of UBERON:0012314 ! embryonic facial prominence
relationship: disease_has_location UBERON:0001456 ! face
relationship: disease_has_major_feature HP:0000202 ! Orofacial cleft
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:119530"} ! inherited

[Term]
id: MONDO:0000359
name: spondylocostal dysostosis
def: "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)." [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
comment: Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. {source="https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"}
subset: gard_rare {source="GARD:12174", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1308", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "costovertebral dysplasia" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "Jarcho-Levin syndrome" RELATED DEPRECATED [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "SCD" RELATED ABBREVIATION [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "SCDO" RELATED ABBREVIATION [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "spondylocostal dysostosis" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "Spondylocostal Dysplasia" EXACT [NORD:1308]
synonym: "spondylocostal dysplasia" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "spondylothoracic dysostosis" RELATED EXCLUDE [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
synonym: "spondylothoracic dysplasia" RELATED EXCLUDE [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/]
xref: DOID:0050568 {source="MONDO:equivalentTo"}
xref: GARD:12174 {source="MONDO:GARD"}
xref: MEDGEN:82707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537565 {source="MONDO:equivalentTo"}
xref: NCIT:C125598 {source="MONDO:equivalentTo"}
xref: NORD:1308 {source="MONDO:NORD"}
xref: OMIMPS:277300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1797 {source="MONDO:relatedTo", source="DOID:0050568"}
xref: Orphanet:2311 {source="DOID:0050568"}
xref: UMLS:C0265343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82707"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="DOID:0050568", source="NCIT:C125598", source="https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"} ! dysostosis
relationship: disease_has_location UBERON:0001130 ! vertebral column
relationship: disease_has_location UBERON:0002228 ! rib
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:277300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0000360
name: obsolete 2-hydroxyglutaric aciduria
is_obsolete: true
replaced_by: MONDO:0016001

[Term]
id: MONDO:0000361
name: obsolete d-2-hydroxyglutaric aciduria
is_obsolete: true
replaced_by: MONDO:0010924

[Term]
id: MONDO:0000362
name: obsolete Sensenbrenner syndrome
is_obsolete: true
replaced_by: MONDO:0009032

[Term]
id: MONDO:0000363
name: gummatous syphilis
def: "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." [DOID:0050584, http://emedicine.medscape.com/article/229461-overview#a0104]
xref: DOID:0050584 {source="MONDO:equivalentTo"}
is_a: MONDO:0004497 {source="DOID:0050584"} ! tertiary syphilis

[Term]
id: MONDO:0000364
name: obsolete severe congenital neutropenia
is_obsolete: true
replaced_by: MONDO:0018542

[Term]
id: MONDO:0000365
name: primary congenital glaucoma
def: "Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs." [https://www.ncbi.nlm.nih.gov/books/NBK1135/]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "primary congenital glaucoma" EXACT [MONDO:ambiguous]
synonym: "primary congenital glaucoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050593 {source="MONDO:equivalentTo"}
xref: HP:0008007 {source="MONDO:otherHierarchy"}
xref: MEDGEN:288550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C150251 {source="MONDO:equivalentTo"}
xref: SCTID:415176004 {source="MONDO:equivalentTo"}
xref: UMLS:C1533041 {source="MEDGEN:288550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005041 {source="DOID:0050593", source="MONDO:Redundant", source="NCIT:C150251/inferred"} ! glaucoma
is_a: MONDO:0020366 {source="NCIT:C150251", source="https://orcid.org/0000-0002-6601-2165"} ! congenital glaucoma
property_value: IAO:0000589 "primary congenital glaucoma (disease)" xsd:string

[Term]
id: MONDO:0000366
name: obsolete glycogen storage disease IX
is_obsolete: true
replaced_by: MONDO:0018251

[Term]
id: MONDO:0000367
name: taeniasis
def: "A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea." [NCIT:C85180]
subset: otar {source="MONDO:OTAR"}
synonym: "beef tapeworm infection" RELATED [DOID:0050596]
synonym: "infection by taenia saginata" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "infection by Taeniarhynchus saginatus" RELATED [DOID:0050596]
synonym: "infections, Taenia" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Taenia infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "taenia saginata infection" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Taenia saginata infectious disease" RELATED [DOID:0050596]
synonym: "unarmed tapeworm infection" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050596 {source="MONDO:equivalentTo"}
xref: EFO:1001433 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B68 {source="MONDO:equivalentTo"}
xref: ICD10CM:B68.1 {source="DOID:0050596"}
xref: ICD9:123.2 {source="DOID:0050596", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:11701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013622 {source="MONDO:equivalentTo"}
xref: NCIT:C85180 {source="MONDO:equivalentTo"}
xref: SCTID:69163003 {source="DOID:0050596", source="MONDO:equivalentTo"}
xref: UMLS:C0039254 {source="MEDGEN:11701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:0050596", source="ICD10CM:B68", source="MESH:D013622/inferred", source="MONDO:Redundant"} ! helminthiasis
is_a: MONDO:0005020 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! intestinal disorder
is_a: MONDO:0005135 {source="DOID:0050596/inferred", source="EFO:1001433", source="MESH:D013622/inferred", source="MONDO:Redundant", source="NCIT:C85180"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6202 ! Taenia

[Term]
id: MONDO:0000368
name: extrapulmonary tuberculosis
def: "A tuberculosis that occurs at body sites other than the lung." [DOID:0050598, http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0050598 {source="MONDO:equivalentTo"}
xref: MEDGEN:671310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:423997002 {source="MONDO:equivalentTo"}
xref: UMLS:C0679362 {source="MEDGEN:671310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018076 {source="DOID:0050598"} ! tuberculosis
disjoint_from: MONDO:0006052 ! pulmonary tuberculosis

[Term]
id: MONDO:0000369
name: abdominal tuberculosis
def: "An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas." [DOID:0050599, http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tuberculosis of abdomen" EXACT []
xref: DOID:0050599 {source="MONDO:equivalentTo"}
xref: ICD9:014.80
xref: MEDGEN:677012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:447330002 {source="MONDO:equivalentTo"}
xref: UMLS:C0740652 {source="MEDGEN:677012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="DOID:0050599"} ! extrapulmonary tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0000916 ! abdomen

[Term]
id: MONDO:0000370
name: obsolete Askin's tumor
is_obsolete: true
replaced_by: MONDO:0006094

[Term]
id: MONDO:0000371
name: oral cavity carcinoma in situ
alt_id: MONDO:0021286
def: "A in situ carcinoma that involves the oral cavity." [MONDO:patterns/location]
synonym: "carcinoma in situ of mouth" EXACT [NCIT:C4587]
synonym: "carcinoma in situ of oral cavity" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the mouth" EXACT [NCIT:C4587]
synonym: "carcinoma in situ of the oral cavity" EXACT [NCIT:C4587]
synonym: "mouth carcinoma in situ" EXACT [NCIT:C4587]
synonym: "oral cavity in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of mouth" EXACT [NCIT:C4587]
synonym: "stage 0 carcinoma of oral cavity" EXACT [NCIT:C4587]
synonym: "stage 0 carcinoma of the mouth" EXACT [NCIT:C4587]
synonym: "stage 0 carcinoma of the oral cavity" EXACT [NCIT:C4587]
synonym: "stage 0 mouth carcinoma" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity cancer" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity cancer aJCC v6" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity cancer aJCC v6 and v7" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity cancer aJCC v7" EXACT [NCIT:C4587]
synonym: "stage 0 oral cavity carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0050610 {source="MONDO:equivalentTo"}
xref: MEDGEN:138076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4587 {source="MONDO:equivalentTo"}
xref: SCTID:92660005 {source="MONDO:equivalentTo"}
xref: UMLS:C0347073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138076"}
is_a: MONDO:0004647 {source="DOID:0050610", source="MONDO:Redundant", source="NCIT:C4587/inferred"} ! in situ carcinoma
is_a: MONDO:0044925 {source="NCIT:C4587"} ! oral cavity carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000167 ! oral cavity

[Term]
id: MONDO:0000372
name: pharynx carcinoma in situ
def: "Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions." [NCIT:P378]
synonym: "carcinoma in situ of pharynx" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4942]
synonym: "carcinoma in situ of the pharynx" EXACT [NCIT:C4942]
synonym: "pharyngeal cancer stage 0" EXACT [NCIT:C4942]
synonym: "pharyngeal carcinoma in situ" EXACT [NCIT:C4942]
synonym: "pharynx carcinoma in situ" EXACT [NCIT:C4942]
synonym: "pharynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of pharynx" EXACT [NCIT:C4942]
synonym: "stage 0 carcinoma of the pharynx" EXACT [NCIT:C4942]
synonym: "stage 0 pharyngeal cancer" EXACT [NCIT:C4942]
synonym: "stage 0 pharyngeal carcinoma" EXACT [NCIT:C4942]
synonym: "stage 0 pharyngeal throat cancer" EXACT [NCIT:C4942]
synonym: "stage 0 pharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4942]
xref: DOID:0050611 {source="MONDO:equivalentTo"}
xref: MEDGEN:83851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4942 {source="MONDO:equivalentTo"}
xref: SCTID:92681005 {source="MONDO:equivalentTo"}
xref: UMLS:C0347098 {source="MEDGEN:83851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="DOID:0050611", source="MONDO:Redundant", source="NCIT:C4942"} ! in situ carcinoma
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C4942"} ! carcinoma of pharynx
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0006562 ! pharynx

[Term]
id: MONDO:0000373
name: gall bladder carcinoma in situ
def: "A carcinoma in situ involving a gall bladder." [MONDO:patterns/carcinoma_in_situ]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma in situ of gall bladder" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "gall bladder in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 gall bladder carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0050612 {source="MONDO:equivalentTo"}
xref: MEDGEN:87523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0345911 {source="MEDGEN:87523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="DOID:0050612", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0000374
name: bile duct carcinoma in situ
def: "A carcinoma in situ involving a bile duct." [MONDO:patterns/carcinoma_in_situ]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of bile duct" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 bile duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0050613 {source="MONDO:equivalentTo"}
is_a: MONDO:0004647 {source="DOID:0050613", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0000375
name: bronchus carcinoma in situ
def: "A carcinoma in situ involving a bronchus." [MONDO:patterns/carcinoma_in_situ]
synonym: "bronchus in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of bronchus" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 bronchus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0050614 {source="MONDO:equivalentTo"}
xref: MEDGEN:754440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:92557009 {source="MONDO:equivalentTo"}
xref: UMLS:C2939445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:754440"}
is_a: MONDO:0004647 {source="DOID:0050614", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0002185 ! bronchus

[Term]
id: MONDO:0000376
name: respiratory system cancer
def: "A malignant neoplasm involving the respiratory system" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of respiratory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of respiratory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant respiratory system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "respiratory system cancer" EXACT [MONDO:patterns/location]
xref: DOID:0050615 {source="MONDO:equivalentTo"}
xref: ICD9:165.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:165.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:756863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:449096009 {source="MONDO:equivalentTo"}
xref: UMLS:C3164456 {source="MEDGEN:756863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="DOID:0050615", source="DOID:0050615/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0005087 {source="DOID:0050615", source="MONDO:Redundant"} ! respiratory system disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001004 ! respiratory system

[Term]
id: MONDO:0000377
name: malignant Leydig cell tumor
def: "A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course." [NCIT:P378]
synonym: "cancer of Leydig cell" EXACT [MONDO:patterns/cancer]
synonym: "Leydig cell cancer" EXACT [MONDO:patterns/location]
synonym: "Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4213]
synonym: "malignant interstitial cell neoplasm" EXACT [NCIT:C4213]
synonym: "malignant interstitial cell tumor" RELATED [DOID:0050616]
synonym: "malignant interstitial cell tumour" RELATED OMO:0003005 []
synonym: "malignant Leydig cell neoplasm" EXACT [DOID:0050616, MONDO:patterns/cancer, NCIT:C4213]
synonym: "malignant neoplasm of Leydig cell" EXACT [MONDO:patterns/cancer]
xref: DOID:0050616 {source="MONDO:equivalentObsolete"}
xref: ICDO:8650/3 {source="NCIT:C4213"}
xref: MEDGEN:83143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4213 {source="MONDO:equivalentTo", source="DOID:0050616"}
xref: SCTID:77870005 {source="DOID:0050616"}
xref: UMLS:C0334410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83143"}
is_a: MONDO:0006266 {source="MONDO:Redundant", source="NCIT:C4213"} ! Leydig cell tumor
intersection_of: MONDO:0006266 ! Leydig cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0000378
name: malignant Sertoli cell tumor
def: "A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site." [NCIT:C67006]
synonym: "malignant Androblastoma" EXACT [NCIT:C67006]
synonym: "Sertoli cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C67006]
xref: DOID:0050617 {source="MONDO:equivalentObsolete"}
xref: ICDO:8630/3 {source="NCIT:C67006"}
xref: ICDO:8640/3 {source="NCIT:C67006"}
xref: MEDGEN:137755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C67006 {source="MONDO:equivalentTo"}
xref: UMLS:C0334406 {source="MEDGEN:137755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002696 {source="MONDO:Redundant", source="NCIT:C67006", source="https://orcid.org/0000-0002-6601-2165"} ! Sertoli cell tumor
intersection_of: MONDO:0002696 ! Sertoli cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: realized_in_response_to_stimulus CL:0000216 ! Sertoli cell

[Term]
id: MONDO:0000379
name: malignant Sertoli-Leydig cell tumor
def: "A malignant form of Sertoli-leydig cell tumor." [MONDO:patterns/malignant]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "Sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:0050618 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002479 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! Sertoli-Leydig cell tumor
intersection_of: MONDO:0002479 ! Sertoli-Leydig cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0000380
name: paranasal sinus carcinoma
def: "A malignant epithelial neoplasm arising in the paranasal sinus." [NCIT:C6014]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "accessory sinus cancer" EXACT [NCIT:C6014]
synonym: "accessory sinus carcinoma" EXACT [NCIT:C6014]
synonym: "adenoid cystic carcinoma of accessory sinus" RELATED [DOID:0050619]
synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [DOID:0050619]
synonym: "cancer of paranasal sinus" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of accessory sinus" EXACT [NCIT:C6014]
synonym: "carcinoma of paranasal sinus" EXACT [MONDO:patterns/carcinoma, NCIT:C6014]
synonym: "carcinoma of the accessory sinus" EXACT [NCIT:C6014]
synonym: "carcinoma of the paranasal sinus" EXACT [NCIT:C6014]
synonym: "epidermoid carcinoma of the paranasal sinus" RELATED [DOID:0050619]
synonym: "malignant neoplasm of paranasal sinus" BROAD [MONDO:patterns/cancer]
synonym: "malignant paranasal sinus neoplasm" BROAD [MONDO:patterns/cancer]
synonym: "mucoepidermoid carcinoma of accessory sinus" RELATED [DOID:0050619]
synonym: "paranasal sinus adenocarcinoma" RELATED [DOID:0050619]
synonym: "paranasal sinus adenoid cystic carcinoma" RELATED [DOID:0050619]
synonym: "paranasal sinus cancer" BROAD [MONDO:patterns/location, NCIT:C6014]
synonym: "paranasal sinus carcinoma" EXACT [NCIT:C6014]
synonym: "paranasal sinus mucoepidermoid carcinoma" RELATED [DOID:0050619]
synonym: "paranasal sinus squamous cell carcinoma" RELATED [DOID:0050619]
synonym: "squamous cell carcinoma of paranasal sinus" RELATED [DOID:0050619]
xref: DOID:0050619 {source="MONDO:equivalentTo"}
xref: MEDGEN:167751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010255 {source="DOID:0050619"}
xref: NCIT:C6014 {source="MONDO:equivalentTo", source="DOID:0050619"}
xref: NCIT:C6017 {source="DOID:0050619"}
xref: NCIT:C6018 {source="DOID:0050619"}
xref: NCIT:C6019 {source="MONDO:relatedTo", source="DOID:0050619"}
xref: NCIT:C8193 {source="DOID:0050619"}
xref: UMLS:C0854995 {source="MONDO:equivalentTo", source="MEDGEN:167751", source="MONDO:MEDGEN"}
is_a: MONDO:0001735 {source="DOID:0050619", source="MONDO:Redundant", source="NCIT:C6014/inferred"} ! paranasal sinus disorder
is_a: MONDO:0056819 {source="NCIT:C6014"} ! nasal cavity and paranasal sinus carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus

[Term]
id: MONDO:0000381
name: infiltrating renal pelvis transitional cell carcinoma
def: "A infiltrating urothelial carcinoma that involves the renal pelvis." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050620 {source="MONDO:equivalentTo"}
is_a: MONDO:0005221 {source="DOID:0050620", source="MONDO:Redundant"} ! renal pelvis urothelial carcinoma
intersection_of: MONDO:0040678 ! infiltrating urothelial carcinoma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0000382
name: respiratory system benign neoplasm
def: "A benign neoplasm that involves the respiratory system." [MONDO:patterns/location]
synonym: "respiratory system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0050621 {source="MONDO:equivalentTo"}
xref: MEDGEN:635669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:255166003 {source="MONDO:equivalentTo"}
xref: UMLS:C0497556 {source="MONDO:equivalentTo", source="MEDGEN:635669", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="DOID:0050621", source="MONDO:Redundant"} ! respiratory system disorder
is_a: MONDO:0005165 {source="DOID:0050621", source="DOID:0050621/inferred", source="MONDO:Redundant"} ! benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001004 ! respiratory system

[Term]
id: MONDO:0000383
name: benign reproductive system neoplasm
def: "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor." [NCIT:C7617]
synonym: "benign reproductive system neoplasm" EXACT [NCIT:C7617]
synonym: "reproductive organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0050622 {source="MONDO:equivalentTo"}
xref: MEDGEN:234034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7617 {source="MONDO:equivalentTo"}
xref: UMLS:C1332536 {source="MEDGEN:234034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005165 {source="DOID:0050622", source="DOID:0050622/inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C7617"} ! reproductive system neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000990 ! reproductive system

[Term]
id: MONDO:0000384
name: bladder benign neoplasm
def: "A benign abnormal growth of the cells that comprise the bladder." [NCIT:P378]
synonym: "benign bladder neoplasm" EXACT [NCIT:C3618]
synonym: "benign bladder tumor" EXACT [NCIT:C3618]
synonym: "benign bladder tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of bladder" EXACT [NCIT:C3618]
synonym: "benign neoplasm of the bladder" EXACT [NCIT:C3618]
synonym: "benign neoplasm of the urinary bladder" EXACT [NCIT:C3618]
synonym: "benign neoplasm of urinary bladder" EXACT [NCIT:C3618]
synonym: "benign tumor of bladder" EXACT [NCIT:C3618]
synonym: "benign tumor of the bladder" EXACT [NCIT:C3618]
synonym: "benign tumor of the urinary bladder" EXACT [NCIT:C3618]
synonym: "benign tumor of urinary bladder" EXACT [NCIT:C3618]
synonym: "benign tumour of bladder" EXACT OMO:0003005 []
synonym: "benign tumour of the bladder" EXACT OMO:0003005 []
synonym: "benign tumour of the urinary bladder" EXACT OMO:0003005 []
synonym: "benign tumour of urinary bladder" EXACT OMO:0003005 []
synonym: "benign urinary bladder neoplasm" EXACT [NCIT:C3618]
synonym: "benign urinary bladder tumor" EXACT [NCIT:C3618]
synonym: "benign urinary bladder tumour" EXACT OMO:0003005 []
synonym: "urinary bladder benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0050623 {source="MONDO:equivalentTo"}
xref: ICD9:223.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3618 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:91992005 {source="MONDO:equivalentTo"}
xref: UMLS:C0154017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57811"}
is_a: MONDO:0004180 {source="DOID:0050623", source="MONDO:Redundant", source="NCIT:C3618"} ! benign urinary system neoplasm
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C3618"} ! urinary bladder neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0000385
name: benign digestive system neoplasm
def: "A non-metastasizing neoplasm arising from any part of the digestive system." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "alimentary part of gastrointestinal system benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "benign digestive system tumor" EXACT [NCIT:C4787]
synonym: "benign digestive system tumour" EXACT OMO:0003005 []
synonym: "benign gastrointestinal neoplasm" EXACT [NCIT:C4787]
synonym: "benign gastrointestinal system tumor" EXACT [NCIT:C4787]
synonym: "benign gastrointestinal system tumour" EXACT OMO:0003005 []
synonym: "benign gastrointestinal tumor" EXACT [NCIT:C4787]
synonym: "benign gastrointestinal tumour" EXACT OMO:0003005 []
synonym: "benign GI neoplasm" EXACT [NCIT:C4787]
synonym: "benign GI system neoplasm" EXACT [NCIT:C4787]
synonym: "benign GI system tumor" EXACT [NCIT:C4787]
synonym: "benign GI system tumour" EXACT OMO:0003005 []
synonym: "benign GI tumor" EXACT [NCIT:C4787]
synonym: "benign GI tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of digestive system" EXACT [NCIT:C4787]
synonym: "benign neoplasm of gastrointestinal system" EXACT [NCIT:C4787]
synonym: "benign neoplasm of the digestive system" EXACT [NCIT:C4787]
synonym: "benign tumor of digestive system" EXACT [NCIT:C4787]
synonym: "benign tumor of gastrointestinal system" EXACT [NCIT:C4787]
synonym: "benign tumor of GI system" EXACT [NCIT:C4787]
synonym: "benign tumor of the digestive system" EXACT [NCIT:C4787]
synonym: "benign tumor of the gastrointestinal system" EXACT [NCIT:C4787]
synonym: "benign tumor of the GI system" EXACT [NCIT:C4787]
synonym: "benign tumour of digestive system" EXACT OMO:0003005 []
synonym: "benign tumour of gastrointestinal system" EXACT OMO:0003005 []
synonym: "benign tumour of GI system" EXACT OMO:0003005 []
synonym: "benign tumour of the digestive system" EXACT OMO:0003005 []
synonym: "benign tumour of the gastrointestinal system" EXACT OMO:0003005 []
synonym: "benign tumour of the GI system" EXACT OMO:0003005 []
synonym: "gastrointestinal system benign neoplasm" RELATED [DOID:0050624]
xref: DOID:0050624 {source="MONDO:equivalentTo"}
xref: MEDGEN:141680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4787 {source="MONDO:equivalentTo"}
xref: UMLS:C0497538 {source="MEDGEN:141680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="DOID:0050624", source="MONDO:Entailed", source="NCIT:C4787/inferred"} ! digestive system disorder
is_a: MONDO:0005165 {source="DOID:0050624", source="DOID:0050624/inferred", source="MONDO:Entailed", source="MONDO:Inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C4787"} ! digestive system neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system

[Term]
id: MONDO:0000386
name: digestive system neuroendocrine tumor, grade 1/2
def: "A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" BROAD [MONDO:patterns/location]
synonym: "alimentary part of gastrointestinal system neuroendocrine tumour" BROAD OMO:0003005 []
synonym: "digestive system NET" BROAD [NCIT:C95404]
synonym: "digestive system neuroendocrine tumor" BROAD [NCIT:C95404]
synonym: "digestive system neuroendocrine tumour" BROAD OMO:0003005 []
synonym: "digestive system well differentiated neuroendocrine tumor" BROAD [NCIT:C95404]
synonym: "digestive system well differentiated neuroendocrine tumour" BROAD OMO:0003005 []
synonym: "gastroenteropancreatic NET" BROAD [NCIT:C95404]
synonym: "gastroenteropancreatic neuroendocrine tumor" BROAD [NCIT:C95404]
synonym: "gastroenteropancreatic neuroendocrine tumour" BROAD OMO:0003005 []
synonym: "gastrointestinal NET" BROAD [NCIT:C95404]
synonym: "gastrointestinal neuroendocrine tumor" BROAD [NCIT:C95404]
synonym: "gastrointestinal neuroendocrine tumors" BROAD [ONCOTREE:GINET]
synonym: "gastrointestinal neuroendocrine tumour" BROAD OMO:0003005 []
synonym: "gastrointestinal neuroendocrine tumours" BROAD OMO:0003005 []
synonym: "gastrointestinal system neuroendocrine tumor" BROAD [NCIT:C95404]
synonym: "gastrointestinal system neuroendocrine tumour" BROAD OMO:0003005 []
synonym: "GINET" RELATED ABBREVIATION [ONCOTREE:GINET]
synonym: "malignant gastrointestinal neuroendocrine tumor" NARROW [DOID:0050626]
synonym: "malignant gastrointestinal neuroendocrine tumour" NARROW OMO:0003005 []
xref: DOID:0050626 {source="MONDO:equivalentTo"}
xref: MEDGEN:443945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95404 {source="MONDO:equivalentTo"}
xref: ONCOTREE:GINET {source="MONDO:equivalentTo"}
xref: UMLS:C2930967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443945"}
is_a: MONDO:0004335 {source="DOID:0050626/inferred", source="MONDO:Redundant", source="NCIT:C95404/inferred"} ! digestive system disorder
is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C95404/inferred"} ! neuroendocrine neoplasm
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C95404/inferred"} ! digestive system neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0000387
name: hypochromic microcytic anemia
def: "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK470252/]
subset: otar {source="MONDO:OTAR"}
synonym: "hypochromic microcytic anaemia (disease)" EXACT OMO:0003005 []
synonym: "hypochromic microcytic anemia" EXACT [MONDO:ambiguous]
synonym: "hypochromic microcytic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050642 {source="MONDO:equivalentTo"}
xref: HP:0004840 {source="MONDO:otherHierarchy"}
xref: MEDGEN:124413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536357 {source="MONDO:equivalentTo"}
xref: SCTID:44666001 {source="MONDO:equivalentTo"}
xref: UMLS:C0271901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124413"}
is_a: MONDO:0001245 {source="DOID:0050642", source="HP:0004840"} ! microcytic anemia
is_a: MONDO:0001357 {source="HP:0004840"} ! hypochromic anemia
intersection_of: MONDO:0002280 ! anemia
intersection_of: disease_has_feature HP:0001931 ! Hypochromic anemia
intersection_of: disease_has_feature HP:0001935 ! Microcytic anemia
property_value: IAO:0000589 "hypochromic microcytic anemia (disease)" xsd:string

[Term]
id: MONDO:0000388
name: obsolete anonychia congenita
synonym: "hyponychia congenita" EXACT [DOID:0050643]
is_obsolete: true
consider: MONDO:0008798

[Term]
id: MONDO:0000389
name: atelosteogenesis
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050648 {source="MONDO:equivalentTo"}
xref: MEDGEN:1806597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:108720 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:43814000 {source="MONDO:equivalentTo"}
xref: UMLS:C5574658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806597"}
is_a: MONDO:0005516 {source="DOID:0050648"} ! osteochondrodysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:108720"} ! inherited

[Term]
id: MONDO:0000390
name: vitelliform macular dystrophy
def: "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision." [NCIT:C118788]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macular dystrophy, vitelliform" EXACT [OMIMPS:153840]
synonym: "vitelliform macular dystrophy" EXACT [NCIT:C118788]
xref: DOID:0050661 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.5 {source="DOID:0050661", source="MONDO:relatedTo"}
xref: MEDGEN:137920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057826 {source="MONDO:equivalentTo"}
xref: NANDO:1200932 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118788 {source="MONDO:equivalentTo"}
xref: OMIMPS:153840 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1243 {source="DOID:0050661"}
xref: Orphanet:99000 {source="DOID:0050661"}
xref: SCTID:90036004 {source="MONDO:equivalentTo"}
xref: UMLS:C0339510 {source="MEDGEN:137920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003004 {source="DOID:0050661"} ! macular degeneration
is_a: MONDO:0020242 {source="NCIT:C118788"} ! hereditary macular dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:153840"} ! inherited

[Term]
id: MONDO:0000391
name: obsolete Bethlem myopathy
is_obsolete: true
replaced_by: MONDO:0008029

[Term]
id: MONDO:0000392
name: obsolete fetal alcohol syndrome
is_obsolete: true
replaced_by: MONDO:0016011

[Term]
id: MONDO:0000393
name: partial fetal alcohol syndrome
def: "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." [DOID:0050666, http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm, http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050666 {source="MONDO:equivalentTo"}
xref: MEDGEN:775682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3661483 {source="MEDGEN:775682", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000408 {source="DOID:0050666"} ! fetal alcohol spectrum disorder

[Term]
id: MONDO:0000394
name: obsolete alcohol-related neurodevelopmental disorder
is_obsolete: true
replaced_by: MONDO:0016011

[Term]
id: MONDO:0000395
name: alcohol-related birth defect
def: "A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy." [NCIT:C92727]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alcohol related birth defect" EXACT [NCIT:C92727]
synonym: "ARBD" EXACT ABBREVIATION [DOID:0050668, NCIT:C92727]
xref: DOID:0050668 {source="MONDO:equivalentTo"}
xref: MEDGEN:459973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92727 {source="MONDO:equivalentTo"}
xref: UMLS:C3146244 {source="MEDGEN:459973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000408 {source="DOID:0050668", source="https://www.cdc.gov/ncbddd/fasd/facts.html"} ! fetal alcohol spectrum disorder
relationship: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0000396
name: spastic cerebral palsy
def: "A form of cerebral palsy wherein spasticity is the exclusive impairment present." [Wikipedia:Spastic_cerebral_palsy]
subset: otar {source="MONDO:OTAR"}
synonym: "hypertonic cerebral palsy" RELATED [Wikipedia:Spastic_cerebral_palsy]
xref: DOID:0050669 {source="MONDO:equivalentTo"}
xref: ICD9:344.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116903 {source="MONDO:equivalentTo"}
xref: SCTID:230773005 {source="MONDO:equivalentTo"}
xref: UMLS:C0338596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137905"}
is_a: MONDO:0006497 {source="DOID:0050669", source="NCIT:C116903"} ! cerebral palsy
relationship: disease_has_feature HP:0001276 ! Hypertonia

[Term]
id: MONDO:0000397
name: ataxic cerebral palsy
def: "A form of cerebral palsy caused by damage to cerebellar structures." [Wikipedia:Ataxic_cerebral_palsy]
synonym: "hypotonic cerebral palsy" RELATED EXCLUDE [DOID:0050670]
xref: DOID:0050670 {source="MONDO:equivalentTo"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:95998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97168 {source="MONDO:equivalentTo"}
xref: SCTID:278512001 {source="MONDO:equivalentTo"}
xref: UMLS:C0394005 {source="MEDGEN:95998", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006497 {source="DOID:0050670", source="NCIT:C97168"} ! cerebral palsy
intersection_of: MONDO:0006497 ! cerebral palsy
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0002037 ! cerebellum

[Term]
id: MONDO:0000398
name: obsolete female breast cancer
is_obsolete: true
replaced_by: MONDO:0004379

[Term]
id: MONDO:0000399
name: obsolete dyskinetic cerebral palsy
is_obsolete: true
replaced_by: MONDO:0022697

[Term]
id: MONDO:0000400
name: mixed cerebral palsy
def: "A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy." [NCIT:C97177]
xref: DOID:0050673 {source="MONDO:equivalentTo"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:148218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97177 {source="MONDO:equivalentTo"}
xref: SCTID:702318008 {source="MONDO:equivalentTo"}
xref: UMLS:C0751024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148218"}
is_a: MONDO:0006497 {source="DOID:0050673", source="NCIT:C97177"} ! cerebral palsy

[Term]
id: MONDO:0000401
name: obsolete congenital bile acid synthesis defect
is_obsolete: true
replaced_by: MONDO:0018841

[Term]
id: MONDO:0000402
name: small cell carcinoma
def: "A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \"oat cells\" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early." [NCIT:C3915]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intermediate cell small cell carcinoma" RELATED [DOID:0050685]
synonym: "oat cell cancer" EXACT [NCIT:C3915]
synonym: "oat cell carcinoma" EXACT [NCIT:C3915]
synonym: "small cell cancer" EXACT [NCIT:C3915]
synonym: "small cell car. (extrapulmonary)" EXACT [NCIT:C3915]
synonym: "small cell carcinoma" EXACT [NCIT:C3915]
synonym: "small cell carcinoma (extrapulmonary)" EXACT [NCIT:C3915]
synonym: "small cell carcinoma - intermediate cell" RELATED [DOID:0050685]
synonym: "small cell carcinoma, intermediate cell" RELATED [DOID:0050685]
synonym: "small cell carcinoma, intermediate cell (morphologic abnormality)" RELATED [DOID:0050685]
synonym: "small cell NEC" EXACT [NCIT:C3915]
synonym: "small cell neuroendocrine carcinoma" EXACT [NCIT:C3915]
xref: DOID:0050685 {source="MONDO:equivalentTo"}
xref: EFO:0008524 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8041/3 {source="NCIT:C3915"}
xref: ICDO:8042/3 {source="NCIT:C3915"}
xref: MEDGEN:90748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018288 {source="MONDO:equivalentTo"}
xref: NCIT:C3915 {source="MONDO:equivalentTo"}
xref: NCIT:C4099 {source="DOID:0050685", source="MONDO:relatedTo"}
xref: SCTID:11010461000119101 {source="MONDO:equivalentTo"}
xref: SCTID:189557009 {source="DOID:0050685"}
xref: SCTID:5958006 {source="DOID:0050685"}
xref: UMLS:C0334239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90748"}
is_a: MONDO:0002120 {source="NCIT:C3915"} ! neuroendocrine carcinoma

[Term]
id: MONDO:0000403
name: obsolete organ system cancer
is_obsolete: true
replaced_by: MONDO:0004992

[Term]
id: MONDO:0000404
name: obsolete cell type cancer
is_obsolete: true
replaced_by: MONDO:0004992

[Term]
id: MONDO:0000405
name: anal canal cancer
def: "A malignant neoplasm involving the anal canal" [https://orcid.org/0000-0002-6601-2165]
synonym: "anal canal cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of anal canal" EXACT [MONDO:patterns/cancer]
synonym: "malignant anal canal neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of anal canal" EXACT [MONDO:patterns/cancer]
xref: DOID:0050688 {source="MONDO:equivalentTo"}
xref: ICD9:154.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363352004 {source="MONDO:equivalentTo"}
xref: UMLS:C0153445 {source="MONDO:equivalentTo", source="MEDGEN:509296", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000159 ! anal canal

[Term]
id: MONDO:0000406
name: obsolete Brown-Vialetto-van Laere syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/127" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008891

[Term]
id: MONDO:0000407
name: malignant pleural solitary fibrous tumor
def: "A malignant form of pleural solitary fibrous tumor." [MONDO:patterns/malignant]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pleural solitary fibrous tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:0050695 {source="MONDO:equivalentTo"}
is_a: MONDO:0006294 {source="DOID:0050695", source="MONDO:Entailed", source="MONDO:Redundant"} ! pleural cancer
is_a: MONDO:0021041 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! pleural solitary fibrous tumor
intersection_of: MONDO:0021041 ! pleural solitary fibrous tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0000408
name: fetal alcohol spectrum disorder
def: "A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues." [NCIT:C92780]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alcohol related birth defects" RELATED [MESH:D063647]
synonym: "alcohol related neurodevelopmental disorder" RELATED [MESH:D063647]
synonym: "alcohol-related birth defects" RELATED [MESH:D063647]
synonym: "alcohol-related birth defects (ARBD) - type" RELATED [GARD:0000599]
synonym: "alcohol-related neurodevelopmental disorder (ARND) - type" RELATED [GARD:0000599]
synonym: "birth defects, alcohol-related" RELATED [MESH:D063647]
synonym: "FAE (fetal alcohol effects)" RELATED [MESH:D063647]
synonym: "FAEs (fetal alcohol effects)" RELATED [MESH:D063647]
synonym: "FASD" RELATED ABBREVIATION [GARD:0000599, MESH:D063647]
synonym: "FASDs" RELATED [MESH:D063647]
synonym: "fetal alcohol spectrum disorders" EXACT [MONDO:0021720]
synonym: "fetal alcohol syndrome" RELATED [MESH:D063647]
synonym: "fetal alcohol syndrome (FAS) - type" RELATED [GARD:0000599]
synonym: "foetal alcohol spectrum disorders" EXACT OMO:0003005 []
synonym: "foetal alcohol syndrome" RELATED OMO:0003005 []
synonym: "foetal alcohol syndrome (FAS) - type" RELATED OMO:0003005 []
synonym: "growth retardation, facial abnormalities, and central nervous system dysfunction" RELATED [MESH:D063647]
synonym: "partial fetal alcohol syndrome" RELATED [MESH:D063647]
synonym: "partial foetal alcohol syndrome" RELATED OMO:0003005 []
synonym: "syndrome, fetal alcohol" RELATED [MESH:D063647]
synonym: "syndrome, foetal alcohol" RELATED OMO:0003005 []
xref: DOID:0050696 {source="MONDO:equivalentTo"}
xref: MEDGEN:457516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D063647 {source="MONDO:equivalentTo"}
xref: NCIT:C92780 {source="MONDO:equivalentTo"}
xref: SCTID:609437000 {source="MONDO:equivalentTo"}
xref: UMLS:C2985290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:457516"}
is_a: MONDO:0000592 {source="DOID:0050696"} ! specific developmental disorder
is_a: MONDO:0021699 {source="MESH:D063647"} ! alcohol-induced disorders

[Term]
id: MONDO:0000409
name: chorioamnionitis
def: "A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion." [NCIT:C26720]
synonym: "fetal membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "foetal membrane inflammation" EXACT OMO:0003005 []
synonym: "inflammation of fetal membrane" EXACT []
synonym: "inflammation of foetal membrane" EXACT OMO:0003005 []
synonym: "intra-amniotic infection" EXACT [Wikipedia:Chorioamnionitis]
xref: DOID:0050697 {source="MONDO:equivalentTo"}
xref: MEDGEN:3056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002821 {source="MONDO:equivalentTo"}
xref: NCIT:C26720 {source="MONDO:equivalentTo"}
xref: SCTID:11612004 {source="MONDO:equivalentTo"}
xref: UMLS:C0008495 {source="MEDGEN:3056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0005917 {source="DOID:0050697", source="NCIT:C26720/inferred"} ! placenta disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C26720/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0005630 ! fetal membrane
relationship: disease_has_infectious_agent NCBITaxon:2 ! Bacteria

[Term]
id: MONDO:0000410
name: funisitis
def: "An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid." [NCIT:C97077]
xref: DOID:0050698 {source="MONDO:equivalentTo"}
xref: ICD9:658.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97077 {source="MONDO:equivalentTo"}
xref: SCTID:396343006 {source="MONDO:equivalentTo"}
xref: UMLS:C1275592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226906"}
is_a: MONDO:0024575 {source="NCIT:C97077"} ! pregnancy disorder
relationship: disease_has_inflammation_site UBERON:0002331 ! umbilical cord
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:0050698", source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder

[Term]
id: MONDO:0000411
name: electroclinical syndrome
def: "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." [DOID:0050701, http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/, PMID:20196795]
subset: otar {source="MONDO:OTAR"}
synonym: "electro-clinical syndrome" EXACT [DOID:0050701]
xref: DOID:0050701 {source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="DOID:0050701"} ! epilepsy

[Term]
id: MONDO:0000412
name: neonatal period electroclinical syndrome
def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." [DOID:0050702, PMID:20196795, PMID:22182677]
comment: Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29
xref: DOID:0050702 {source="MONDO:equivalentTo"}
is_a: MONDO:0000411 {source="DOID:0050702"} ! electroclinical syndrome

[Term]
id: MONDO:0000413
name: infancy electroclinical syndrome
def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." [DOID:0050703, PMID:20196795]
xref: DOID:0050703 {source="MONDO:equivalentTo"}
is_a: MONDO:0000411 {source="DOID:0050703"} ! electroclinical syndrome

[Term]
id: MONDO:0000414
name: childhood electroclinical syndrome
def: "A electroclinical syndrome that occurs during childhood." [MONDO:design_pattern]
synonym: "electroclinical syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric electroclinical syndrome" EXACT OMO:0003005 []
synonym: "pediatric electroclinical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:0050704 {source="MONDO:equivalentTo"}
is_a: MONDO:0000411 {source="DOID:0050704", source="MONDO:Redundant"} ! electroclinical syndrome
intersection_of: MONDO:0000411 ! electroclinical syndrome
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0000415
name: adolescence-adult electroclinical syndrome
def: "An electroclinical syndrome with onset in adolescence and adulthood." [DOID:0050705, PMID:20196795]
xref: DOID:0050705 {source="MONDO:equivalentTo"}
is_a: MONDO:0000411 {source="DOID:0050705"} ! electroclinical syndrome

[Term]
id: MONDO:0000416
name: obsolete variable age at onset electroclinical syndrome
is_obsolete: true
replaced_by: MONDO:0100036

[Term]
id: MONDO:0000417
name: obsolete early onset absence epilepsy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7360" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010826

[Term]
id: MONDO:0000418
name: obsolete Ohtahara syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/19" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100062

[Term]
id: MONDO:0000419
name: obsolete 3-Methylcrotonyl-CoA carboxylase deficiency
is_obsolete: true
replaced_by: MONDO:0018950

[Term]
id: MONDO:0000420
name: obsolete cerebral folate receptor alpha deficiency
is_obsolete: true
replaced_by: MONDO:0013110

[Term]
id: MONDO:0000421
name: inborn serine deficiency
def: "An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "inborn error of L-serine biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn L-serine biosynthetic process disorder" EXACT []
synonym: "rare inborn error of L-serine biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0050721 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006564 ! L-serine biosynthetic process

[Term]
id: MONDO:0000422
name: obsolete inborn glycogen metabolism disorder
is_obsolete: true
replaced_by: MONDO:0002412

[Term]
id: MONDO:0000423
name: obsolete coenzyme Q10 deficiency disease
is_obsolete: true
replaced_by: MONDO:0018151

[Term]
id: MONDO:0000424
name: inborn vitamin B12 deficiency
def: "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement." [NCIT:C131684]
comment: Reason: duplicate. This will be merged with MONDO:0019220 or MONDO:0020696
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "cobalamin deficiency" BROAD [DOID:0050731]
synonym: "hypocobalaminemia" BROAD [DOID:0050731]
synonym: "inborn cobalamin metabolic process disorder" EXACT []
synonym: "inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn vitamin B12 deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "rare inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0050731 {source="MONDO:equivalentTo"}
is_a: MONDO:0005528 {source="HP:0100502", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn vitamin metabolic disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0009235 ! cobalamin metabolic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7353" xsd:anyURI
property_value: IAO:0000589 "inborn vitamin B12 deficiency (disease)" xsd:string
property_value: IAO:0006012 "2024-06-01" xsd:string

[Term]
id: MONDO:0000425
name: X-linked disease
def: "X-linked form of disease." [MONDO:patterns/x_linked]
subset: otar {source="MONDO:OTAR"}
synonym: "disease or disorder, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "disease, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "disease, X-linked genetic" RELATED [MESH:D040181]
synonym: "diseases, X-linked genetic" RELATED [MESH:D040181]
synonym: "genetic disease, X-linked" RELATED [MESH:D040181]
synonym: "genetic diseases, X chromosome linked" RELATED [MESH:D040181]
synonym: "genetic diseases, X linked" RELATED [MESH:D040181]
synonym: "genetic diseases, X-chromosome linked" RELATED [MESH:D040181]
synonym: "X linked genetic diseases" RELATED [MESH:D040181]
synonym: "X-linked disease or disorder" EXACT [MONDO:design_pattern]
synonym: "X-linked genetic disease" RELATED [MESH:D040181]
synonym: "X-linked genetic diseases" RELATED [MESH:D040181]
synonym: "X-linked hereditary disease" EXACT []
synonym: "X-linked hereditary disorder" EXACT []
synonym: "X-linked inherited disease" EXACT []
synonym: "X-linked inherited disorder" EXACT []
xref: DOID:0050735 {source="MONDO:equivalentTo"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:222910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D040181 {source="MONDO:equivalentTo"}
xref: NCIT:C85865 {source="MONDO:equivalentTo"}
xref: SCTID:128430005 {source="MONDO:equivalentTo"}
xref: UMLS:C1138434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:222910"}
is_a: MONDO:0003847 {source="DOID:0050735/inferred", source="MESH:D040181", source="MONDO:Redundant", source="NCIT:C85865"} ! hereditary disease
intersection_of: MONDO:0000001 ! disease
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
disjoint_from: MONDO:0000426 ! autosomal dominant disease
disjoint_from: MONDO:0006025 ! autosomal recessive disease

[Term]
id: MONDO:0000426
name: autosomal dominant disease
def: "Autosomal dominant form of disease." [MONDO:patterns/autosomal_dominant]
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal dominant disease or disorder" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant hereditary disorder" EXACT []
synonym: "autosomal dominant inherited disorder" EXACT []
synonym: "disease or disorder, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0050736 {source="MONDO:equivalentTo"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:11164009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265385 {source="MEDGEN:539206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000429 {source="DOID:0050736"} ! autosomal genetic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
disjoint_from: MONDO:0006025 ! autosomal recessive disease

[Term]
id: MONDO:0000427
name: obsolete autosomal recessive disease
is_obsolete: true
replaced_by: MONDO:0006025

[Term]
id: MONDO:0000428
name: Y-linked disease
def: "Y-linked form of disease." [MONDO:patterns/y_linked]
synonym: "disease or disorder, Y-linked" EXACT [MONDO:patterns/y_linked]
synonym: "disease, Y-linked" EXACT [MONDO:patterns/y_linked]
synonym: "disease, Y-linked genetic" RELATED [MESH:D050174]
synonym: "diseases, Y-linked genetic" RELATED [MESH:D050174]
synonym: "genetic disease, Y-linked" RELATED [MESH:D050174]
synonym: "genetic diseases, Y chromosome linked" RELATED [MESH:D050174]
synonym: "genetic diseases, Y linked" RELATED [MESH:D050174]
synonym: "genetic diseases, Y-chromosome linked" RELATED [MESH:D050174]
synonym: "Y linked genetic diseases" RELATED [MESH:D050174]
synonym: "Y-linked disease or disorder" EXACT [MONDO:design_pattern]
synonym: "Y-linked genetic disease" RELATED [MESH:D050174]
synonym: "Y-linked genetic diseases" RELATED [MESH:D050174]
xref: DOID:0050738 {source="MONDO:equivalentTo"}
xref: MEDGEN:289655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050174 {source="MONDO:equivalentTo"}
xref: UMLS:C1563751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:289655"}
is_a: MONDO:0003847 {source="DOID:0050738/inferred", source="MESH:D050174"} ! hereditary disease
intersection_of: MONDO:0000001 ! disease
intersection_of: has_characteristic HP:0001450 ! Y-linked inheritance

[Term]
id: MONDO:0000429
name: autosomal genetic disease
def: "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes." [DOID:0050739, http://ghr.nlm.nih.gov/glossary=autosomaldominant, http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns]
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal hereditary disorder" EXACT []
synonym: "autosomal inherited disease" EXACT []
synonym: "autosomal inherited disorder" EXACT []
xref: DOID:0050739 {source="MONDO:equivalentTo"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1899006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265384 {source="MEDGEN:539205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/1758"} ! hereditary disease

[Term]
id: MONDO:0000430
name: mature T-cell and NK-cell non-Hodgkin lymphoma
def: "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma." [NCIT:C3468]
subset: gard_rare {source="GARD:7368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mature T-and NK-cell lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell and natural killer cell lymphoma" RELATED [DOID:0050743]
synonym: "mature T-cell and NK-cell lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell and NK-cell non-Hodgkin lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell and NK-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell lymphoma" EXACT [NCIT:C3468]
synonym: "mature T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3468]
synonym: "NK-T cell lymphoma" RELATED [DOID:0050743]
synonym: "peripheral T-cell lymphoma" EXACT [MONDO:0000434, NCIT:C3468]
synonym: "PTCL" EXACT ABBREVIATION [NCIT:C3468]
xref: DOID:0050743 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0050749 {source="MONDO:equivalentTo"}
xref: GARD:7368 {source="MONDO:GARD"}
xref: ICD10CM:C84.4 {source="MONDO:equivalentTo"}
xref: ICDO:9702/3 {source="NCIT:C3468"}
xref: MEDGEN:1790498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016411 {source="MONDO:equivalentTo"}
xref: NCIT:C3468 {source="MONDO:equivalentTo"}
xref: SCTID:109977009 {source="MONDO:equivalentTo"}
xref: UMLS:C5551485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790498"}
is_a: MONDO:0005169 {source="MONDO:Redundant", source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells
is_a: MONDO:0015760 {source="MESH:D016411", source="MONDO:Redundant", source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma
is_a: MONDO:0018908 {source="DOID:0050743", source="DOID:0050749/inferred", source="MESH:D016411/inferred", source="MONDO:0000430/inferred", source="NCIT:C3468/inferred"} ! non-Hodgkin lymphoma
intersection_of: MONDO:0005169 {source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells
intersection_of: MONDO:0015760 {source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma" xsd:anyURI {source="GARD:0007368"}

[Term]
id: MONDO:0000431
name: obsolete mantle cell lymphoma
is_obsolete: true
replaced_by: MONDO:0018876

[Term]
id: MONDO:0000432
name: lymphoplasmacytic lymphoma
def: "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Immunocytoma, lymphoplasmacytic type" EXACT [NCIT:C3212]
synonym: "lymphoma, lymphoplasmacytic, malignant" EXACT [NCIT:C3212]
synonym: "lymphoma, plasmacytic" EXACT [NCIT:C3212]
synonym: "lymphoplasmacytic lymphoma" EXACT [NCIT:C3212]
synonym: "lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)" EXACT [NCIT:C3212]
synonym: "lymphoplasmacytoid lymphoma" EXACT [NCIT:C3212]
xref: DOID:0050747 {source="MONDO:equivalentObsolete"}
xref: ICD10CM:C88.0 {source="DOID:0050747"}
xref: ICD9:273.3 {source="MONDO:relatedTo", source="DOID:0050747"}
xref: ICDO:9671/3 {source="NCIT:C3212"}
xref: ICDO:9761/3 {source="NCIT:C3212"}
xref: MEDGEN:473052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008258 {source="DOID:0050747"}
xref: NCIT:C115212 {source="DOID:0050747"}
xref: NCIT:C3212 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NCIT:C80307 {source="DOID:0050747"}
xref: ONCOTREE:LPL {source="MONDO:equivalentTo"}
xref: Orphanet:33226 {source="DOID:0050747"}
xref: SCTID:109981009 {source="DOID:0050747"}
xref: SCTID:154750002 {source="DOID:0050747"}
xref: SCTID:190014001 {source="DOID:0050747"}
xref: SCTID:190817009 {source="MONDO:relatedTo", source="DOID:0050747"}
xref: SCTID:190818004 {source="DOID:0050747"}
xref: SCTID:190821002 {source="DOID:0050747"}
xref: SCTID:267503004 {source="DOID:0050747"}
xref: SCTID:35562000 {source="DOID:0050747"}
xref: UMLS:C0334633 {source="MEDGEN:473052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004095 {source="DOID:0050747", source="NCIT:C3212/inferred"} ! B-cell neoplasm
relationship: disease_has_feature HP:0005508 {source="MONDO:Wikidata"} ! Monoclonal immunoglobulin M proteinemia

[Term]
id: MONDO:0000433
name: obsolete marginal zone B-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0006495

[Term]
id: MONDO:0000434
name: obsolete peripheral T-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0000430

[Term]
id: MONDO:0000435
name: obsolete splenic marginal zone lymphoma
is_obsolete: true
replaced_by: MONDO:0006431

[Term]
id: MONDO:0000436
name: obsolete T-cell large granular lymphocyte leukemia
is_obsolete: true
replaced_by: MONDO:0019469

[Term]
id: MONDO:0000437
name: cerebellar ataxia
def: "A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways." [https://bestpractice.bmj.com/topics/en-gb/1097]
comment: In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19816", source="MONDO:GARD"}
subset: mondo_rare {source="https://bestpractice.bmj.com/topics/en-gb/1097"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:102002"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia" RELATED AMBIGUOUS []
synonym: "ataxia syndrome" EXACT [MONDO:0015142]
synonym: "ataxia, cerebellar" RELATED [MESH:D002524]
synonym: "ataxias, cerebellar" RELATED [MESH:D002524]
synonym: "cerebellar Ataxias" RELATED [MESH:D002524]
synonym: "cerebellar dysmetria" RELATED [MESH:D002524]
synonym: "cerebellar Dysmetrias" RELATED [MESH:D002524]
synonym: "rare ataxia" RELATED [Orphanet:102002]
synonym: "spinocerebellar ataxia" NARROW []
synonym: "spinocerebellar Degeneration" EXACT [NCIT:C82341]
xref: DOID:0050753 {source="MONDO:equivalentTo"}
xref: GARD:19816 {source="MONDO:GARD"}
xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002524 {source="MONDO:equivalentTo"}
xref: NANDO:1200037 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100238 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200882 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C82341 {source="MONDO:equivalentTo"}
xref: Orphanet:102002 {source="MONDO:equivalentTo"}
xref: SCTID:85102008 {source="MONDO:equivalentTo"}
xref: UMLS:C0007758 {source="MONDO:equivalentTo", source="MEDGEN:849", source="MONDO:MEDGEN"}
is_a: MONDO:0002427 {source="DOID:0050753", source="MESH:D002524"} ! cerebellar disorder
is_a: MONDO:0005071 {source="DOID:0050753/inferred", source="MESH:D002524/inferred", source="Orphanet:102002", source="https://bestpractice.bmj.com/topics/en-gb/1097"} ! nervous system disorder
is_a: MONDO:0005395 {source="MESH:D002524/inferred", source="https://bestpractice.bmj.com/topics/en-gb/1097"} ! movement disorder
is_a: MONDO:0100308 {source="https://orcid.org/0000-0002-0736-9199"} ! atactic disorder
intersection_of: MONDO:0100308 ! atactic disorder
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0002037 ! cerebellum
relationship: disease_has_basis_in_dysfunction_of UBERON:0002037 ! cerebellum
relationship: disease_has_feature HP:0001251 ! Ataxia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009", source="https://bestpractice.bmj.com/topics/en-gb/1097"} ! rare

[Term]
id: MONDO:0000438
name: obsolete ataxia with oculomotor apraxia type 2
is_obsolete: true
replaced_by: MONDO:0018996

[Term]
id: MONDO:0000439
name: obsolete batten disease
is_obsolete: true
replaced_by: MONDO:0019262

[Term]
id: MONDO:0000440
name: metabolic acidosis
xref: DOID:0050758 {source="MONDO:equivalentTo"}
xref: MEDGEN:65117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:59455009 {source="MONDO:equivalentTo"}
xref: UMLS:C0220981 {source="MEDGEN:65117", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006022 {source="https://orcid.org/0000-0001-5208-3432"} ! acidosis disorder
relationship: excluded_subClassOf MONDO:0006040 {source="DOID:0050758", source="https://orcid.org/0000-0001-5208-3432"} ! lactic acidosis

[Term]
id: MONDO:0000441
name: obsolete X-linked myopathy with excessive autophagy
is_obsolete: true
replaced_by: MONDO:0010684

[Term]
id: MONDO:0000442
name: obsolete paramyloidosis
is_obsolete: true
replaced_by: MONDO:0007100

[Term]
id: MONDO:0000443
name: obsolete adenylosuccinase lyase deficiency
is_obsolete: true
replaced_by: MONDO:0007068

[Term]
id: MONDO:0000444
name: obsolete ARC syndrome
synonym: "pericyte cell syndromic disease" EXACT [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0017123

[Term]
id: MONDO:0000445
name: obsolete neuroacanthocytosis
is_obsolete: true
replaced_by: MONDO:0016987

[Term]
id: MONDO:0000446
name: midface dysplasia
xref: DOID:0050767 {source="MONDO:equivalentTo"}
is_a: MONDO:0005516 {source="DOID:0050767"} ! osteochondrodysplasia

[Term]
id: MONDO:0000447
name: autosomal dominant polycystic liver disease
def: "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." [GARD:0009457]
subset: gard_rare {source="GARD:9457", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2924"}
subset: orphanet_rare {source="Orphanet:2924"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AD polycystic liver disease" EXACT [https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/]
synonym: "ADPLD" EXACT ABBREVIATION [https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/]
synonym: "congenital cystic liver disease" RELATED [DOID:0050770]
synonym: "congenital hepatic cyst" RELATED [DOID:0050770]
synonym: "fibrocystic liver disease" RELATED [DOID:0050770]
synonym: "isolated congenital polycystic liver disease" EXACT [Orphanet:2924]
synonym: "isolated polycystic liver disease" EXACT [Orphanet:2924]
synonym: "PCLD" EXACT ABBREVIATION [GARD:0009457]
synonym: "polycystic liver disease" EXACT [MONDO:ambiguous]
xref: DOID:0050770 {source="MONDO:equivalentTo"}
xref: GARD:9457 {source="MONDO:GARD"}
xref: HP:0006557 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q44.6 {source="MONDO:equivalentTo"}
xref: icd11.foundation:1361740083 {source="MONDO:equivalentTo", source="Orphanet:2924", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:751.62 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10010427 {source="MONDO:relatedTo"}
xref: MedDRA:10048834 {source="MONDO:relatedTo"}
xref: MedDRA:10083939
xref: MEDGEN:56388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536330 {source="Orphanet:2924/e", source="Orphanet:2924"}
xref: NCIT:C82833 {source="MONDO:equivalentTo"}
xref: OMIMPS:174050 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2924 {source="MONDO:equivalentTo"}
xref: SCTID:72925005 {source="MONDO:equivalentTo"}
xref: UMLS:C0158683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56388"}
is_a: MONDO:0000426 {source="DOID:0050770", source="OMIMPS:174050"} ! autosomal dominant disease
is_a: MONDO:0003847 {source="DOID:0050770/inferred"} ! hereditary disease
is_a: MONDO:0005154 {source="https://orcid.org/0000-0002-6601-2165"} ! liver disorder
relationship: disease_has_location UBERON:0002107 ! liver
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:174050"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease" xsd:anyURI {source="GARD:0009457"}

[Term]
id: MONDO:0000448
name: paraganglioma
def: "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." [NCIT:C3308]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chemodectoma" NARROW [DOID:0050773]
synonym: "neoplasm of paraganglion" EXACT [NCIT:C3308]
synonym: "neoplasm of the paraganglion" EXACT [NCIT:C3308]
synonym: "paraganglioma" EXACT CLINGEN_LABEL [NCIT:C3308]
synonym: "paragangliomas" EXACT [OMIMPS:168000]
synonym: "paraganglion neoplasm" EXACT [NCIT:C3308]
synonym: "paraganglion tumor" EXACT [NCIT:C3308]
synonym: "paraganglion tumour" EXACT OMO:0003005 []
synonym: "Paraganglionic neoplasm" EXACT [NCIT:C3308]
synonym: "Paraganglionic tumor" EXACT [NCIT:C3308]
synonym: "Paraganglionic tumour" EXACT OMO:0003005 []
synonym: "tumor of paraganglion" EXACT [NCIT:C3308]
synonym: "tumor of the paraganglion" EXACT [NCIT:C3308]
synonym: "tumour of paraganglion" EXACT OMO:0003005 []
synonym: "tumour of the paraganglion" EXACT OMO:0003005 []
xref: DOID:0050773 {source="MONDO:equivalentTo"}
xref: EFO:1000453 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8680/1 {source="NCIT:C3308"}
xref: MEDGEN:10571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010235 {source="DOID:0050773", source="MONDO:equivalentTo"}
xref: NCIT:C3308 {source="DOID:0050773", source="MONDO:equivalentTo"}
xref: OMIMPS:168000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: ONCOTREE:PGNG {source="MONDO:equivalentTo"}
xref: SCTID:127027008 {source="DOID:0050773", source="MONDO:equivalentTo"}
xref: SCTID:189743009 {source="DOID:0050773"}
xref: SCTID:253029009 {source="DOID:0050773"}
xref: SCTID:302833002 {source="DOID:0050773"}
xref: SCTID:72787006 {source="DOID:0050773"}
xref: SCTID:803009 {source="DOID:0050773"}
xref: UMLS:C0030421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10571"}
is_a: MONDO:0002366 {source="MONDO:Redundant", source="NCIT:C3308"} ! autonomic nervous system neoplasm
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0019496 {source="DOID:0050773", source="MESH:D010235", source="MONDO:Redundant", source="NCIT:C3308"} ! neuroendocrine neoplasm
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_arises_from_structure CL:0011012 ! neural crest cell
intersection_of: disease_has_location UBERON:0002410 ! autonomic nervous system
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:168000"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0000449
name: obsolete Opitz-GBBB syndrome
is_obsolete: true
replaced_by: MONDO:0017138

[Term]
id: MONDO:0000450
name: secondary progressive multiple sclerosis
def: "A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase." [PMID:27166830]
subset: otar {source="MONDO:OTAR"}
synonym: "secondary-progressive MS" EXACT [DOID:0050783, PMID:27166830]
synonym: "SPMS" EXACT ABBREVIATION [DOID:0050783, PMID:27166830]
xref: DOID:0050783 {source="MONDO:equivalentTo"}
xref: EFO:0008522 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:155969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020528 {source="DOID:0050783"}
xref: NANDO:1200026 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201321 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:425500002 {source="DOID:0050783", source="MONDO:equivalentTo"}
xref: UMLS:C0751965 {source="MEDGEN:155969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005284 ! chronic progressive multiple sclerosis

[Term]
id: MONDO:0000451
name: primary progressive multiple sclerosis
def: "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." [DOID:0050784, http://www.mayoclinic.org/multiple-sclerosis/types.html, http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx]
subset: otar {source="MONDO:OTAR"}
synonym: "PPMS" EXACT ABBREVIATION [DOID:0050784]
synonym: "primary-progressive MS" EXACT [DOID:0050784]
xref: DOID:0050784 {source="MONDO:equivalentTo"}
xref: EFO:0008520 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:155968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020528 {source="DOID:0050784"}
xref: NANDO:1200025 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201320 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:428700003 {source="DOID:0050784", source="MONDO:equivalentTo"}
xref: UMLS:C0751964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155968"}
is_a: MONDO:0005284 ! chronic progressive multiple sclerosis

[Term]
id: MONDO:0000452
name: progressive relapsing multiple sclerosis
def: "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset." [DOID:0050785, http://www.mayoclinic.org/multiple-sclerosis/types.html, http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx]
synonym: "PRMS" EXACT ABBREVIATION [DOID:0050785]
synonym: "progressive-relapsing MS" EXACT [DOID:0050785]
xref: DOID:0050785 {source="MONDO:equivalentTo"}
xref: MEDGEN:95982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020528 {source="DOID:0050785"}
xref: SCTID:230374002 {source="DOID:0050785", source="MONDO:equivalentTo"}
xref: UMLS:C0393666 {source="MEDGEN:95982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005284 {source="https://orcid.org/0000-0001-5208-3432"} ! chronic progressive multiple sclerosis

[Term]
id: MONDO:0000453
name: short QT syndrome
def: "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified" [Wikipedia:Short_QT_syndrome]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16650", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2019"}
subset: ordo_disorder {source="Orphanet:51083"}
subset: orphanet_rare {source="Orphanet:51083"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "familial short QT syndrome" RELATED [Orphanet:51083]
synonym: "short QT syndrome" EXACT CLINGEN_LABEL []
synonym: "ventricular arrhythmia associated with short QT syndrome" EXACT [NCIT:C71060]
xref: DOID:0050793 {source="MONDO:equivalentTo"}
xref: GARD:16650 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="Orphanet:51083", source="Orphanet:51083/attributed", source="Orphanet:51083/ntbt"}
xref: icd11.foundation:553392015 {source="MONDO:equivalentTo", source="Orphanet:51083"}
xref: ICD9:426.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:378835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580439 {source="MONDO:equivalentTo"}
xref: NCIT:C71060 {source="MONDO:equivalentTo"}
xref: NORD:2019 {source="MONDO:NORD"}
xref: OMIMPS:609620 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:51083 {source="MONDO:equivalentTo", source="OMIM:609620"}
xref: SCTID:698272007 {source="MONDO:equivalentTo"}
xref: UMLS:C2348199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:378835"}
is_a: MONDO:0000992 {source="DOID:0050793"} ! heart conduction disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609620"} ! inherited

[Term]
id: MONDO:0000454
name: obsolete multiple synostoses syndrome
is_obsolete: true
replaced_by: MONDO:0017923

[Term]
id: MONDO:0000455
name: cone dystrophy
def: "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." [http://en.wikipedia.org/wiki/Cone_dystrophy]
subset: gard_rare {source="GARD:11897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:991"}
subset: ordo_disorder {source="Orphanet:1871"}
subset: orphanet_rare {source="Orphanet:1871"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cone dystrophy" EXACT [Orphanet:1871]
synonym: "progressive cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/, Orphanet:1871]
synonym: "retinal cone dystrophy" RELATED [DOID:0050795]
synonym: "stationary cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/]
xref: DOID:0050795 {source="MONDO:equivalentTo"}
xref: GARD:11897 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:1871", source="Orphanet:1871/attributed", source="Orphanet:1871/ntbt"}
xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:676499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000077765 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:1200936 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:991 {source="MONDO:NORD"}
xref: Orphanet:1871 {source="MONDO:equivalentTo"}
xref: SCTID:312917007 {source="MONDO:equivalentTo"}
xref: UMLS:C0730290 {source="MEDGEN:676499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005283 {source="DOID:0050795", source="MONDO:Redundant"} ! retinal disorder
is_a: MONDO:0019118 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited retinal dystrophy
is_a: MONDO:0020242 {source="Orphanet:1871"} ! hereditary macular dystrophy

[Term]
id: MONDO:0000456
name: cerebral creatine deficiency syndrome
def: "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." [Orphanet:79172]
subset: disease_grouping
subset: gard_rare {source="GARD:18952", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79172"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCDS" EXACT ABBREVIATION [Orphanet:79172]
synonym: "CDS" EXACT ABBREVIATION [Orphanet:79172]
synonym: "cerebral creatine deficiency syndrome" EXACT [Orphanet:79172]
synonym: "creatine deficiency syndrome" EXACT [MONDO:0019221]
xref: DOID:0050798 {source="MONDO:equivalentTo"}
xref: GARD:18952 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:79172", source="Orphanet:79172/attributed", source="Orphanet:79172/ntbt"}
xref: MEDGEN:1826001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201032 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100226 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200842 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:300352 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:79172 {source="MONDO:equivalentTo"}
xref: UMLS:C5244016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826001"}
is_a: MONDO:0004736 {source="DOID:0050798", source="MONDO:Redundant"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019243 {source="Orphanet:79172"} ! inborn disorder of energy metabolism
is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
relationship: disease_has_basis_in_disruption_of GO:0006600 ! creatine metabolic process
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300352"} ! inherited

[Term]
id: MONDO:0000457
name: classical glioblastoma
def: "A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification." [NCIT:C111694]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "classical glioblastoma" EXACT [NCIT:C111694]
synonym: "glioblastoma classical subtype" RELATED [DOID:0050803]
xref: DOID:0050803 {source="MONDO:equivalentTo"}
xref: MEDGEN:820001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111694 {source="MONDO:equivalentTo"}
xref: UMLS:C3827253 {source="MEDGEN:820001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018177 {source="DOID:0050803", source="NCIT:C111694/inferred"} ! glioblastoma

[Term]
id: MONDO:0000458
name: proneural glioblastoma
def: "A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications." [NCIT:C111692]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioblastoma proneural subtype" RELATED [DOID:0050804]
synonym: "proneural glioblastoma" EXACT [NCIT:C111692]
xref: DOID:0050804 {source="MONDO:equivalentTo"}
xref: MEDGEN:821212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111692 {source="MONDO:equivalentTo"}
xref: UMLS:C3828464 {source="MEDGEN:821212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018177 {source="DOID:0050804", source="NCIT:C111692/inferred"} ! glioblastoma

[Term]
id: MONDO:0000459
name: mesenchymal glioblastoma
def: "A molecular subtype of glioblastoma characterized by the presence of NF1 mutations." [NCIT:C111695]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioblastoma mesenchymal subtype" RELATED [DOID:0050805]
synonym: "mesenchymal glioblastoma" EXACT [NCIT:C111695]
xref: DOID:0050805 {source="MONDO:equivalentTo"}
xref: MEDGEN:821870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111695 {source="MONDO:equivalentTo"}
xref: UMLS:C3829122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:821870"}
is_a: MONDO:0018177 {source="DOID:0050805", source="NCIT:C111695/inferred"} ! glioblastoma

[Term]
id: MONDO:0000460
name: neural glioblastoma
def: "A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5." [NCIT:C111693]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioblastoma neural subtype" RELATED [DOID:0050806]
synonym: "neural glioblastoma" EXACT [NCIT:C111693]
xref: DOID:0050806 {source="MONDO:equivalentTo"}
xref: MEDGEN:821580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111693 {source="MONDO:equivalentTo"}
xref: UMLS:C3828832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:821580"}
is_a: MONDO:0018177 {source="DOID:0050806", source="NCIT:C111693/inferred"} ! glioblastoma

[Term]
id: MONDO:0000461
name: nutritional biotin deficiency
comment: Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this?
subset: otar {source="MONDO:OTAR"}
synonym: "B7 deficiency" BROAD [DOID:0050810]
synonym: "biotin deficiency" BROAD [DOID:0050810]
synonym: "biotin deficiency disease" BROAD []
synonym: "vitamine B7 deficiency" BROAD []
xref: DOID:0050810 {source="MONDO:equivalentTo"}
xref: MEDGEN:785975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531633 {source="MONDO:equivalentTo"}
xref: SCTID:49607006 {source="MONDO:equivalentTo"}
xref: UMLS:C3714396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:785975"}
is_a: MONDO:0006873 {source="DOID:0050810"} ! nutritional deficiency disease
is_a: MONDO:0024298 {source="https://orcid.org/0000-0001-5208-3432"} ! vitamin deficiency disorder
intersection_of: MONDO:0006873 ! nutritional deficiency disease
intersection_of: disease_has_basis_in_disruption_of GO:0006768 ! biotin metabolic process

[Term]
id: MONDO:0000462
name: eye adnexa disorder
def: "A disease involving the ocular adnexa." [MONDO:patterns/location_top]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of ocular adnexa" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ocular adnexa" EXACT []
synonym: "disorder of ocular adnexa" EXACT [MONDO:patterns/location_top]
synonym: "ocular adnexa disease" EXACT [MONDO:patterns/location]
synonym: "ocular adnexa disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050815 {source="MONDO:equivalentObsolete"}
xref: EFO:0009546 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H00-H59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H55-H57 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10WHO:H00-H06 {source="MONDO:equivalentTo"}
xref: MEDGEN:713201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519266 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:118941004 {source="MONDO:equivalentTo"}
xref: UMLS:C1290855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:713201"}
is_a: MONDO:0002022 {source="DOID:0050815", source="ICD10CM:H00-H06", source="MONDO:Redundant"} ! disorder of orbital region
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0035639 ! ocular adnexa

[Term]
id: MONDO:0000463
name: Ochoa syndrome
def: "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." [Orphanet:2704]
subset: gard_rare {source="GARD:104", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1515"}
subset: ordo_disorder {source="Orphanet:2704"}
subset: ordo_malformation_syndrome {source="Orphanet:2704"}
subset: orphanet_rare {source="Orphanet:2704"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydronephrosis with peculiar facial expression" EXACT [DOID:0050816]
synonym: "hydronephrosis-inverted smile syndrome" EXACT [Orphanet:2704]
synonym: "inverted smile and occult neuropathic bladder" RELATED [GARD:0000104]
synonym: "inverted smile-neurogenic bladder syndrome" EXACT [Orphanet:2704]
synonym: "Ochoa syndrome" EXACT [DOID:0050816, Orphanet:2704]
synonym: "partial facial palsy with urinary abnormalities" EXACT [GARD:0000104, Orphanet:2704]
synonym: "UFS" RELATED ABBREVIATION [GARD:0000104]
synonym: "urofacial Ochoa's syndrome" RELATED [GARD:0000104]
synonym: "Urofacial Syndrome" EXACT [NORD:1515]
synonym: "urofacial syndrome" EXACT [Orphanet:2704]
xref: DOID:0050816 {source="MONDO:equivalentTo"}
xref: GARD:104 {source="MONDO:GARD"}
xref: ICD10CM:N31.8 {source="Orphanet:2704", source="Orphanet:2704/attributed", source="Orphanet:2704/ntbt"}
xref: MEDGEN:98015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536480 {source="Orphanet:2704/e", source="MONDO:equivalentTo", source="Orphanet:2704"}
xref: NORD:1515 {source="MONDO:NORD"}
xref: OMIMPS:236730 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2704 {source="MONDO:equivalentTo", source="GARD:0000104", source="OMIM:236730"}
xref: SCTID:236533008 {source="MONDO:equivalentTo"}
xref: UMLS:C0403555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98015"}
is_a: MONDO:0006025 {source="DOID:0050816", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: disease_has_feature HP:0000011 {source="MONDO:Wikidata"} ! Neurogenic bladder
relationship: has_characteristic HP:0000007 {source="Orphanet:2704"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:236730"} ! inherited

[Term]
id: MONDO:0000464
name: obsolete Stargardt disease
is_obsolete: true
replaced_by: MONDO:0019353

[Term]
id: MONDO:0000465
name: atrioventricular block
def: "A heart block that is initiated in the atrioventricular node." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Atrioventricular_block]
subset: otar {source="MONDO:OTAR"}
synonym: "atrioventricular block" EXACT [MONDO:ambiguous]
synonym: "atrioventricular block (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "AV block" EXACT [DOID:0050820, Wikipedia:Atrioventricular_block]
synonym: "AV nodal block" EXACT [Wikipedia:Heart_block]
synonym: "AVB" EXACT ABBREVIATION [Wikipedia:Atrioventricular_block]
xref: DOID:0050820 {source="MONDO:equivalentTo"}
xref: HP:0001678 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I44.3 {source="DOID:0050820"}
xref: ICD10CM:I44.30 {source="DOID:0050820"}
xref: ICD9:426.10 {source="MONDO:equivalentTo", source="DOID:0050820", source="MONDO:i2s"}
xref: MEDGEN:13956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054537 {source="MONDO:equivalentTo", source="DOID:0050820"}
xref: NCIT:C26703 {source="MONDO:otherHierarchy", source="DOID:0050820"}
xref: SCTID:195040005 {source="DOID:0050820"}
xref: SCTID:195043007 {source="DOID:0050820"}
xref: SCTID:233917008 {source="MONDO:equivalentTo", source="DOID:0050820"}
xref: SCTID:58547007 {source="DOID:0050820"}
xref: UMLS:C0004245 {source="MEDGEN:13956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000992 {source="DOID:0050820"} ! heart conduction disease
is_a: MONDO:0008848 {source="MESH:D054537"} ! atrioventricular dissociation
property_value: IAO:0000589 "atrioventricular block (disease)" xsd:string

[Term]
id: MONDO:0000466
name: first-degree atrioventricular block
def: "A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds." [NCIT:C62015]
synonym: "atrioventricular block first degree" EXACT [NCIT:C62015]
synonym: "atrioventricular block, first degree" EXACT [NCIT:C62015]
synonym: "AV block first degree" EXACT [NCIT:C62015]
synonym: "first degree atrioventricular block" EXACT [NCIT:C62015]
synonym: "first degree AV block" EXACT [NCIT:C62015]
xref: DOID:0050821 {source="MONDO:equivalentTo"}
xref: ICD9:426.11 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C62015 {source="MONDO:equivalentTo"}
xref: SCTID:270492004 {source="MONDO:equivalentTo"}
xref: UMLS:C0085614 {source="MEDGEN:43215", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000465 {source="DOID:0050821"} ! atrioventricular block
is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C62015"} ! cardiac rhythm disease

[Term]
id: MONDO:0000467
name: second-degree atrioventricular block
def: "Intermittent failure of atrial electrical impulse conduction to the ventricles." [NCIT:C111119]
synonym: "atrioventricular block second degree" EXACT [NCIT:C111119]
synonym: "atrioventricular block, second degree" EXACT [NCIT:C111119]
synonym: "AV block second degree" EXACT [NCIT:C111119]
synonym: "second degree atrioventricular block" EXACT [NCIT:C111119]
synonym: "second degree AV block" EXACT [NCIT:C111119]
synonym: "second-degree heart block" EXACT [DOID:0050822]
xref: DOID:0050822 {source="MONDO:equivalentTo"}
xref: ICD9:426.13 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111119 {source="MONDO:equivalentTo"}
xref: SCTID:195042002 {source="MONDO:equivalentTo"}
xref: UMLS:C0264906 {source="MEDGEN:75546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000465 {source="DOID:0050822"} ! atrioventricular block
is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C111119"} ! cardiac rhythm disease

[Term]
id: MONDO:0000468
name: third-degree atrioventricular block
def: "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)" [NCIT:C50501]
subset: otar {source="MONDO:OTAR"}
synonym: "atrioventricular block complete" EXACT [NCIT:C50501]
synonym: "atrioventricular block, third degree" EXACT [NCIT:C50501]
synonym: "AV block third degree" EXACT [NCIT:C50501]
synonym: "complete atrioventricular block" EXACT [NCIT:C50501]
synonym: "complete AV block" EXACT [DOID:0050823]
synonym: "complete heart block" EXACT [NCIT:C50501]
synonym: "non-congenital complete atrioventricular block" EXACT [NCIT:C50501]
synonym: "third degree atrioventricular block" EXACT [NCIT:C50501]
synonym: "third degree AV block" EXACT [NCIT:C50501]
xref: DOID:0050823 {source="MONDO:equivalentTo"}
xref: ICD9:426.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200214 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50501 {source="MONDO:equivalentTo"}
xref: SCTID:27885002 {source="MONDO:equivalentTo"}
xref: UMLS:C0151517 {source="MEDGEN:56230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000465 {source="DOID:0050823"} ! atrioventricular block
is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C50501"} ! cardiac rhythm disease

[Term]
id: MONDO:0000469
name: sinoatrial node disorder
def: "A disease involving the sinoatrial node." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of sinoatrial node" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sinoatrial node" EXACT []
synonym: "disorder of sinoatrial node" EXACT [MONDO:patterns/location_top]
synonym: "SA node" RELATED [DOID:0050824]
synonym: "sinoatrial node disease" EXACT [MONDO:patterns/location]
synonym: "sinoatrial node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sinuatrial node" RELATED [DOID:0050824]
xref: DOID:0050824 {source="MONDO:equivalentTo"}
xref: MEDGEN:98448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0428908 {source="MEDGEN:98448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000992 {source="DOID:0050824"} ! heart conduction disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002351 ! sinoatrial node

[Term]
id: MONDO:0000470
name: endocardium disorder
def: "A disease involving the endocardium." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of endocardium" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of endocardium" EXACT []
synonym: "disorder of endocardium" EXACT [MONDO:patterns/location_top]
synonym: "endocardial disease" EXACT []
synonym: "endocardiopathy" RELATED []
synonym: "endocardium disease" EXACT [MONDO:patterns/location]
synonym: "endocardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050825 {source="MONDO:equivalentTo"}
xref: MEDGEN:678520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:123596001 {source="MONDO:equivalentTo"}
xref: UMLS:C0854140 {source="MEDGEN:678520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="DOID:0050825", source="MONDO:Redundant"} ! heart disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002165 ! endocardium

[Term]
id: MONDO:0000471
name: tricuspid valve disorder
def: "A disease involving the tricuspid valve." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of tricuspid valve" EXACT [DOID:0050826, ICD9CM:397.0, MONDO:patterns/location_top]
synonym: "disease or disorder of tricuspid valve" EXACT []
synonym: "disorder of tricuspid valve" EXACT [MONDO:patterns/location_top]
synonym: "RH. tricuspid valve disease" NARROW [DOID:0050826]
synonym: "rheumatic disease of tricuspid valve" NARROW [DOID:0050826]
synonym: "rheumatic tricuspid valve disease" NARROW [DOID:0050826]
synonym: "tricuspid disease" EXACT [DOID:0050826]
synonym: "tricuspid valve disease" EXACT [MONDO:patterns/location]
synonym: "tricuspid valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "tricuspid valve disorder" EXACT [NCIT:C78649]
xref: DOID:0050826 {source="MONDO:equivalentTo"}
xref: EFO:0009568 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I07 {source="DOID:0050826"}
xref: ICD10CM:I07.9 {source="DOID:0050826"}
xref: ICD9:397.0 {source="DOID:0050826"}
xref: MEDGEN:120507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78649 {source="MONDO:equivalentTo"}
xref: SCTID:155289000 {source="DOID:0050826"}
xref: SCTID:194745002 {source="DOID:0050826"}
xref: SCTID:20721001 {source="MONDO:equivalentTo"}
xref: SCTID:266282000 {source="DOID:0050826"}
xref: SCTID:49699002 {source="DOID:0050826"}
xref: UMLS:C0264882 {source="MEDGEN:120507", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002869 {source="DOID:0050826", source="MONDO:Redundant", source="NCIT:C78649"} ! heart valve disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002134 ! tricuspid valve

[Term]
id: MONDO:0000472
name: obsolete rheumatic heart disease
is_obsolete: true
replaced_by: MONDO:0006955

[Term]
id: MONDO:0000473
name: arterial disorder
def: "An impairment of the structure or function of the blood vessels which carry blood away from the heart." [NCIT:C35317]
subset: otar {source="MONDO:OTAR"}
synonym: "arterial disease" EXACT [NCIT:C35317]
synonym: "arterial disorder" EXACT [NCIT:C35317]
synonym: "arteriopathy" EXACT [NCIT:C35317]
synonym: "artery disease" EXACT [MONDO:patterns/location]
synonym: "artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of artery" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of artery" EXACT []
synonym: "disorder of artery" EXACT [MONDO:patterns/location_top]
xref: DOID:0050828 {source="MONDO:equivalentTo"}
xref: ICD9:447.8
xref: ICD9:447.9
xref: MEDGEN:208875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35317 {source="MONDO:equivalentTo"}
xref: SCTID:359557001 {source="MONDO:equivalentTo"}
xref: UMLS:C0852949 {source="MEDGEN:208875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="DOID:0050828", source="MONDO:Redundant", source="NCIT:C35317/inferred"} ! vascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001637 ! artery

[Term]
id: MONDO:0000474
name: pericardium disorder
def: "A disease involving the pericardium." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of pericardium" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pericardium" EXACT []
synonym: "disorder of pericardium" EXACT [MONDO:patterns/location_top]
synonym: "pericardium disease" EXACT [MONDO:patterns/location]
synonym: "pericardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050829 {source="MONDO:equivalentTo"}
xref: ICD9:423.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:423.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:539093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:55855009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265122 {source="MEDGEN:539093", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="DOID:0050829", source="MONDO:Redundant"} ! cardiovascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002407 ! pericardium

[Term]
id: MONDO:0000475
name: obsolete pyrimidine metabolic disorder
is_obsolete: true
replaced_by: MONDO:0019238

[Term]
id: MONDO:0000476
name: generalized dystonia
subset: disease_grouping
subset: gard_rare {source="GARD:21618", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:376724"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood torsion disease" RELATED [MESH:D004422]
synonym: "dystonia 12" RELATED [DOID:0050835]
synonym: "dystonia deformans musculorum" RELATED [MESH:D004422]
synonym: "dystonia deformans progressiva" EXACT [DOID:0050835, MESH:D004422]
synonym: "dystonia musculorum deformans" RELATED [DOID:0050835]
synonym: "dystonia, Idiopathic torsion" RELATED [MESH:D004422]
synonym: "dystonias, Idiopathic torsion" RELATED [MESH:D004422]
synonym: "dystonias, torsion" RELATED [MESH:D004422]
synonym: "familial dystonia" RELATED [DOID:0050835]
synonym: "fragments of torsion dystonia" RELATED [DOID:0050835]
synonym: "generalised isolated dystonia" EXACT OMO:0003005 []
synonym: "generalized isolated dystonia" EXACT [MONDO:0018303]
synonym: "idiopathic familial dystonia" RELATED [DOID:0050835]
synonym: "idiopathic non-familial dystonia" RELATED [DOID:0050835]
synonym: "Idiopathic torsion dystonia" RELATED [MESH:D004422]
synonym: "idiopathic torsion dystonia" RELATED [DOID:0050835, ICD9CM:333.6]
synonym: "Idiopathic torsion dystonias" RELATED [MESH:D004422]
synonym: "Oppenheim Ziehen disease" RELATED [MESH:D004422]
synonym: "Oppenheim-Ziehen disease" RELATED [MESH:D004422]
synonym: "Progressive torsion spasm" RELATED [MESH:D004422]
synonym: "spasm, Progressive torsion" RELATED [MESH:D004422]
synonym: "symptomatic torsion dystonia" RELATED [DOID:0050835]
synonym: "torsion disease of childhood" RELATED [MESH:D004422]
synonym: "torsion disease, childhood" RELATED [MESH:D004422]
synonym: "torsion dystonia" RELATED [MESH:D004422, Wikipedia:Dystonia#Generalized_dystonias]
synonym: "torsion dystonia, Idiopathic" RELATED [MESH:D004422]
synonym: "torsion spasm, Progressive" RELATED [MESH:D004422]
xref: DOID:0050835 {source="MONDO:equivalentTo"}
xref: GARD:21618 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:376724", source="DOID:0050835", source="Orphanet:376724/attributed", source="Orphanet:376724/ntbt"}
xref: ICD10CM:G24.2 {source="DOID:0050835"}
xref: ICD9:333.6 {source="DOID:0050835"}
xref: ICD9:333.8 {source="DOID:0050835"}
xref: ICD9:333.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:341342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004422 {source="MONDO:equivalentTo", source="DOID:0050835"}
xref: MESH:D020821 {source="DOID:0050835"}
xref: NCIT:C34564 {source="DOID:0050835"}
xref: NCIT:C35437 {source="DOID:0050835"}
xref: NCIT:C35438 {source="DOID:0050835"}
xref: NCIT:C35527 {source="DOID:0050835"}
xref: Orphanet:376724 {source="MONDO:equivalentTo"}
xref: SCTID:155008004 {source="DOID:0050835"}
xref: SCTID:192852006 {source="DOID:0050835"}
xref: SCTID:192853001 {source="DOID:0050835"}
xref: SCTID:192858005 {source="DOID:0050835"}
xref: SCTID:192859002 {source="DOID:0050835"}
xref: SCTID:192862004 {source="DOID:0050835"}
xref: SCTID:22451001 {source="DOID:0050835"}
xref: SCTID:230318005 {source="DOID:0050835"}
xref: SCTID:230321007 {source="DOID:0050835"}
xref: SCTID:267584007 {source="DOID:0050835"}
xref: SCTID:425492002 {source="MONDO:equivalentTo"}
xref: SCTID:431034009 {source="DOID:0050835"}
xref: SCTID:55776008 {source="DOID:0050835"}
xref: SCTID:57937000 {source="DOID:0050835"}
xref: UMLS:C1848954 {source="MONDO:equivalentTo", source="MEDGEN:341342", source="MONDO:MEDGEN"}
is_a: MONDO:0003441 {source="DOID:0050835", source="MESH:D004422"} ! dystonic disorder
is_a: MONDO:0015494 {source="MONDO:Redundant", source="Orphanet:376724"} ! isolated dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0000477
name: focal dystonia
def: "A dystonia that is localized to a specific part of the body." [DOID:0050836, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050836 {source="MONDO:equivalentTo"}
xref: MEDGEN:149279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:445006008 {source="MONDO:equivalentTo"}
xref: UMLS:C0743332 {source="MEDGEN:149279", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003441 {source="DOID:0050836"} ! dystonic disorder

[Term]
id: MONDO:0000478
name: multifocal dystonia
def: "A dystonia that involves two or more unrelated body parts." [DOID:0050837, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050837 {source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="DOID:0050837"} ! dystonic disorder

[Term]
id: MONDO:0000479
name: segmental dystonia
def: "A dystonia that affects two or more adjacent parts of the body." [DOID:0050838, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
xref: DOID:0050838 {source="MONDO:equivalentTo"}
xref: ICD9:333.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:744778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:427945008 {source="MONDO:equivalentTo"}
xref: UMLS:C1997740 {source="MONDO:equivalentTo", source="MEDGEN:744778", source="MONDO:MEDGEN"}
is_a: MONDO:0003441 {source="DOID:0050838"} ! dystonic disorder

[Term]
id: MONDO:0000480
name: anismus
def: "A focal dystonia of the pelvic floor muscles during attempted defecation." [Wikipedia:Anismus]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal region skeletal muscle focal dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "dyskinetic puborectalis" RELATED [Wikipedia:Anismus]
synonym: "dyssynergic defecation" RELATED [Wikipedia:Anismus]
synonym: "focal dystonia of anal region skeletal muscle" EXACT [MONDO:design_pattern]
synonym: "puborectalis syndrome" RELATED [Wikipedia:Anismus]
synonym: "rectosphincteric dyssynergia" RELATED []
synonym: "spastic pelvic floor syndrome" RELATED []
synonym: "sphincteric disobedience syndrome" RELATED []
xref: DOID:0050839 {source="MONDO:equivalentTo"}
xref: ICD9:569.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:540810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:83605009 {source="MONDO:equivalentTo"}
xref: UMLS:C0267601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540810"}
is_a: MONDO:0000477 {source="DOID:0050839", source="MONDO:Redundant", source="Wikipedia:Anismus"} ! focal dystonia
intersection_of: MONDO:0000477 ! focal dystonia
intersection_of: disease_has_location UBERON:0004832 ! anal region skeletal muscle
relationship: disease_disrupts GO:0030421 ! defecation

[Term]
id: MONDO:0000481
name: cervical dystonia
def: "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery." [https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia]
subset: otar {source="MONDO:OTAR"}
synonym: "spasmodic torticollis" RELATED [DOID:0050840]
xref: DOID:0050840 {source="MONDO:equivalentTo"}
xref: ICD9:333.83 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C85072 {source="MONDO:equivalentTo"}
xref: Orphanet:93962 {source="MONDO:equivalentObsolete"}
xref: SCTID:74333002 {source="MONDO:equivalentTo"}
xref: UMLS:C0152116 {source="MEDGEN:101818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000477 {source="DOID:0050840", source="Wikipedia:Dystonia"} ! focal dystonia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia" xsd:anyURI {source="GARD:0010668"}

[Term]
id: MONDO:0000482
name: focal hand dystonia
def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." [DOID:0050841, http://en.wikipedia.org/wiki/Dystonia]
synonym: "hand and arm dystonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "organic writer's cramp" RELATED [DOID:0050841]
synonym: "writer's cramp" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
xref: DOID:0050841 {source="MONDO:equivalentTo"}
xref: ICD9:333.84 {source="DOID:0050841", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020821 {source="DOID:0050841"}
xref: SCTID:155009007 {source="DOID:0050841"}
xref: SCTID:267690000 {source="DOID:0050841"}
xref: SCTID:52008007 {source="DOID:0050841", source="MONDO:equivalentTo"}
xref: SCTID:79994003 {source="DOID:0050841"}
xref: UMLS:C0154676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57821"}
is_a: MONDO:0000477 {source="DOID:0050841"} ! focal dystonia

[Term]
id: MONDO:0000483
name: oculogyric crisis
def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." [DOID:0050842, http://en.wikipedia.org/wiki/Oculogyric_crisis]
xref: DOID:0050842 {source="MONDO:equivalentTo"}
xref: MEDGEN:43221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0085637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43221"}
is_a: MONDO:0000477 {source="DOID:0050842", source="Wikipedia:Dystonia"} ! focal dystonia

[Term]
id: MONDO:0000484
name: obsolete oromandibular dystonia
is_obsolete: true
replaced_by: MONDO:0019771

[Term]
id: MONDO:0000485
name: spasmodic dystonia
def: "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx." [https://rarediseases.org/rare-diseases/laryngeal-dystonia/]
comment: As discussed in https://github.com/monarch-initiative/mondo/issues/7187, this term was determined to be an actual disease and not a phenotype.
subset: otar {source="MONDO:OTAR"}
synonym: "abductor spasmodic dysphonia" NARROW [GARD:0007668]
synonym: "adductor spasmodic dysphonia" NARROW [GARD:0007668]
synonym: "laryngeal dyskinesia" EXACT [GARD:0007668]
synonym: "laryngeal dystonia" EXACT [DOID:0050844, https://rarediseases.org/rare-diseases/laryngeal-dystonia/]
synonym: "mixed spasmodic dysphonia (type)" RELATED [GARD:0007668]
synonym: "spasmodic dysphonia" EXACT [GARD:0007668, https://rarediseases.org/rare-diseases/laryngeal-dystonia/]
synonym: "spastic dysphonia" EXACT [GARD:0007668, https://rarediseases.org/rare-diseases/laryngeal-dystonia/]
xref: DOID:0050844 {source="MONDO:equivalentTo"}
xref: ICD9:478.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:409603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055154 {source="MONDO:equivalentTo"}
xref: Orphanet:93961 {source="MONDO:equivalentObsolete"}
xref: SCTID:3331000119108 {source="MONDO:equivalentTo"}
xref: UMLS:C1963946 {source="MEDGEN:409603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000477 {source="DOID:0050844", source="Wikipedia:Dystonia"} ! focal dystonia
relationship: disease_has_location UBERON:0001737 ! larynx
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7187" xsd:anyURI

[Term]
id: MONDO:0000486
name: craniofacial dystonia
alt_id: MONDO:0022885
def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." [DOID:0050845, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
synonym: "cranio-facial dystonia" EXACT [DOID:0050845]
xref: DOID:0050845 {source="MONDO:equivalentTo"}
xref: MEDGEN:868612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4023011 {source="MEDGEN:868612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000477 {source="DOID:0050845"} ! focal dystonia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10667/craniofacial-dystonia" xsd:anyURI {source="GARD:0010667"}

[Term]
id: MONDO:0000487
name: hemidystonia
def: "A multifocal dystonia that involves the arm and leg on the same side of the body." [DOID:0050846, http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]
xref: DOID:0050846 {source="MONDO:equivalentTo"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:743329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:427232004 {source="MONDO:equivalentTo"}
xref: UMLS:C1960561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743329"}
is_a: MONDO:0000478 {source="DOID:0050846"} ! multifocal dystonia
is_a: MONDO:0003441 {source="DOID:0050846/inferred", source="MONDO:Redundant"} ! dystonic disorder

[Term]
id: MONDO:0000488
name: periampullary adenoma
def: "A adenoma that involves the periampullary region of duodenum." [MONDO:patterns/location]
synonym: "periampullary region of duodenum adenoma" EXACT [MONDO:patterns/location]
xref: DOID:0050849 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0012273 ! periampullary region of duodenum
relationship: excluded_subClassOf MONDO:0000921 {source="DOID:0050849", source="https://orcid.org/0000-0001-5208-3432"} ! ampulla of vater neoplasm

[Term]
id: MONDO:0000489
name: diabetic encephalopathy
def: "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." [DOID:0050850, http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1, PMID:20798963]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050850 {source="MONDO:equivalentTo"}
xref: MEDGEN:1806599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1868773 {source="MEDGEN:1806599", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:0050850", source="MONDO:Redundant"} ! brain disorder
intersection_of: MONDO:0005560 ! brain disorder
intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus

[Term]
id: MONDO:0000490
name: glomerulosclerosis
def: "A hardening of the kidney glomerulus caused by scarring of the blood vessels." [NCIT:C120888]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glomerular sclerosis" EXACT [NCIT:C120888]
xref: DOID:0050851 {source="MONDO:equivalentTo"}
xref: MEDGEN:61248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120888 {source="MONDO:equivalentTo"}
xref: SCTID:197661001 {source="MONDO:equivalentTo"}
xref: UMLS:C0178664 {source="MEDGEN:61248", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019722 {source="https://orcid.org/0000-0002-6601-2165"} ! glomerular disorder
relationship: disease_has_feature HP:0000096 ! Glomerular sclerosis
relationship: disease_has_location UBERON:0000074 ! renal glomerulus

[Term]
id: MONDO:0000491
name: limb ischemia
def: "A ischemia that involves the limb." [MONDO:patterns/location]
synonym: "ischaemic disease of limb" EXACT OMO:0003005 []
synonym: "ischemic disease of limb" EXACT [MONDO:design_pattern]
synonym: "limb ischaemic disease" EXACT OMO:0003005 []
synonym: "limb ischemia" EXACT [MONDO:patterns/location]
synonym: "limb ischemic disease" EXACT [MONDO:patterns/location]
xref: DOID:0050852 {source="MONDO:equivalentTo"}
xref: MEDGEN:754513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21631000119105 {source="MONDO:equivalentTo"}
xref: UMLS:C2945695 {source="MONDO:equivalentTo", source="MEDGEN:754513", source="MONDO:MEDGEN"}
is_a: MONDO:0005053 {source="DOID:0050852", source="MONDO:Redundant"} ! ischemic disease
intersection_of: MONDO:0005053 ! ischemic disease
intersection_of: disease_has_location UBERON:0002101 ! limb

[Term]
id: MONDO:0000492
name: chronic venous insufficiency
def: "Chronic form of venous insufficiency (disease)." [MONDO:patterns/chronic]
synonym: "chronic venous insufficiency (disease)" EXACT []
synonym: "venous insufficiency (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:0050853 {source="MONDO:equivalentTo"}
xref: MEDGEN:727071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1306557 {source="MEDGEN:727071", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000945 {source="DOID:0050853", source="MONDO:Entailed", source="MONDO:Redundant"} ! venous insufficiency
intersection_of: MONDO:0000945 ! venous insufficiency
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0000493
name: obsolete Muckle-Wells syndrome
is_obsolete: true
replaced_by: MONDO:0008633

[Term]
id: MONDO:0000494
name: renal fibrosis
def: "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." [https://orcid.org/0000-0002-6601-2165, PMID:16408108]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0050855 {source="MONDO:equivalentTo"}
xref: EFO:1001517 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:508798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197660000 {source="MONDO:equivalentTo"}
xref: UMLS:C0151650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508798"}
is_a: MONDO:0000490 {source="https://orcid.org/0000-0002-6601-2165"} ! glomerulosclerosis
is_a: MONDO:0005240 {source="DOID:0050855", source="EFO:1001517", source="EFO:1001517/inferred", source="MONDO:Redundant"} ! kidney disorder
relationship: disease_has_feature MONDO:0000490 ! glomerulosclerosis

[Term]
id: MONDO:0000495
name: oppositional defiant disorder
def: "A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors." [NCIT:C92565]
synonym: "oppositional defiant disorder" EXACT [MONDO:ambiguous]
synonym: "oppositional defiant disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050856 {source="MONDO:equivalentTo"}
xref: HP:0010865 {source="MONDO:otherHierarchy"}
xref: ICD9:313.81 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:18178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019958 {source="MONDO:equivalentTo"}
xref: NCIT:C92565 {source="MONDO:equivalentTo"}
xref: SCTID:18941000 {source="MONDO:equivalentTo"}
xref: UMLS:C0029121 {source="MEDGEN:18178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000592 {source="DOID:0050856"} ! specific developmental disorder
property_value: IAO:0000589 "oppositional defiant disorder (disease)" xsd:string

[Term]
id: MONDO:0000496
name: hemorrhagic cystitis
def: "Inflammation of the bladder resulting in bloody urine." [NCIT:C114666]
xref: DOID:0050859 {source="MONDO:equivalentTo"}
xref: MEDGEN:508360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114666 {source="MONDO:equivalentTo"}
xref: SCTID:87696004 {source="MONDO:equivalentTo"}
xref: UMLS:C0085692 {source="MEDGEN:508360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006032 {source="DOID:0050859", source="MONDO:Redundant", source="NCIT:C114666"} ! cystitis
intersection_of: MONDO:0006032 ! cystitis
intersection_of: disease_has_feature HP:0000790 ! Hematuria

[Term]
id: MONDO:0000497
name: pyometritis
def: "Inflammation of uterine musculature associated with pus in the uterine cavity." [https://medical-dictionary.thefreedictionary.com/pyometritis]
synonym: "inflammation of myometrium" EXACT []
synonym: "myometrium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pyometra" EXACT [NCIT:C121207]
xref: DOID:0050862 {source="MONDO:equivalentTo"}
xref: MEDGEN:18784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055112 {source="MONDO:equivalentTo"}
xref: NCIT:C121207 {source="MONDO:equivalentTo"}
xref: SCTID:88981003 {source="MONDO:equivalentTo"}
xref: UMLS:C0034215 {source="MEDGEN:18784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:0050862", source="MESH:D055112", source="MONDO:Redundant"} ! uterine disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C121207/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001296 ! myometrium

[Term]
id: MONDO:0000498
name: arteritic anterior ischemic optic neuropathy
def: "An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)" [Wikipedia:Arteritic_anterior_ischemic_optic_neuropathy]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arteritic aion" EXACT [Wikipedia:Arteritic_anterior_ischemic_optic_neuropathy]
xref: DOID:0050863 {source="MONDO:equivalentTo"}
xref: MEDGEN:1378092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:733506009 {source="MONDO:equivalentTo"}
xref: UMLS:C2242711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378092"}
is_a: MONDO:0006649 {source="DOID:0050863"} ! anterior ischemic optic neuropathy
is_a: MONDO:0008538 {source="https://orcid.org/0000-0002-6601-2165"} ! temporal arteritis
disjoint_from: MONDO:0000499 ! non-arteritic anterior ischemic optic neuropathy

[Term]
id: MONDO:0000499
name: non-arteritic anterior ischemic optic neuropathy
subset: inferred_rare
subset: rare
synonym: "NAION" EXACT ABBREVIATION [Orphanet:415300]
synonym: "non-arteritic aion" EXACT [Wikipedia:Arteritic_anterior_ischemic_optic_neuropathy]
synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT OMO:0003005 []
synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [DOID:0050864]
xref: DOID:0050864 {source="MONDO:equivalentTo"}
xref: MEDGEN:338887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:415300 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1852242 {source="MEDGEN:338887", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006649 {source="DOID:0050864"} ! anterior ischemic optic neuropathy

[Term]
id: MONDO:0000500
name: tongue squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "scc of the tongue" EXACT [NCIT:C4648]
synonym: "scc of tongue" EXACT [NCIT:C4648]
synonym: "squamous cell carcinoma of the tongue" EXACT [NCIT:C4648]
synonym: "squamous cell carcinoma of tongue" EXACT [NCIT:C4648]
synonym: "tongue scc" EXACT [NCIT:C4648]
synonym: "tongue squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050865 {source="MONDO:equivalentTo"}
xref: MEDGEN:91153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002294 {source="DOID:0050865"}
xref: NCIT:C2929 {source="DOID:0050865"}
xref: NCIT:C4648 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:154605007 {source="DOID:0050865"}
xref: SCTID:189566008 {source="DOID:0050865"}
xref: SCTID:276952000 {source="MONDO:equivalentTo"}
xref: SCTID:28899001 {source="DOID:0050865"}
xref: SCTID:402815007 {source="DOID:0050865"}
xref: UMLS:C0349566 {source="MEDGEN:91153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004631 {source="DOID:0050865", source="MONDO:Redundant", source="NCIT:C4648/inferred"} ! tongue cancer
is_a: MONDO:0004958 {source="DOID:0050865", source="MONDO:Redundant", source="NCIT:C4648"} ! oral cavity squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001723 ! tongue

[Term]
id: MONDO:0000501
name: obsolete Jensen syndrome
synonym: "deafness-opticoacoustic nerve atrophy-dementia syndrome" RELATED [Orphanet:3213]
synonym: "Jensen syndrome" RELATED [OMIM:311150]
synonym: "nerve deafness optic nerve atrophy, and dementia" RELATED [GARD:0003046]
synonym: "opticoacoustic nerve atrophy with dementia" EXACT [DOID:0050867, MONDO:0010701, OMIM:311150]
synonym: "Opticoacustic nerve atrophy with dementia" RELATED [GARD:0003046]
synonym: "syndrome of opticoacoustic nerve atrophy with dementia" RELATED [GARD:0003046]
xref: DOID:0050867 {source="MONDO:obsoleteEquivalentObsolete"}
xref: MESH:C537568 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:311150 {source="MONDO:obsolete"}
xref: Orphanet:3213 {source="OMIM:311150", source="DOID:0050867", source="MONDO:obsolete"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3046/jensen-syndrome" xsd:anyURI {source="GARD:0003046"}
is_obsolete: true
replaced_by: MONDO:0010578

[Term]
id: MONDO:0000502
name: villous adenoma
def: "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "villous adenoma" EXACT [NCIT:C7399]
xref: DOID:0050869 {source="MONDO:equivalentTo"}
xref: ICDO:8261/0 {source="NCIT:C7399"}
xref: MEDGEN:60206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018253 {source="MONDO:equivalentTo"}
xref: NCIT:C7399 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0206674 {source="MEDGEN:60206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="DOID:0050869", source="MESH:D018253", source="NCIT:C7399"} ! adenoma
is_a: MONDO:0024276 {source="NCIT:C7399"} ! glandular cell neoplasm

[Term]
id: MONDO:0000503
name: lung adenocarcinoma in situ
def: "A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion." [NCIT:C136486]
comment: Editor note: check why NCIT has two classes
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosquamous cell carcinoma in situ of lung" RELATED [NCIT:C8748]
synonym: "adenosquamous cell carcinoma in situ of the lung" RELATED [NCIT:C8748]
synonym: "bronchioalveolar carcinoma" RELATED [DOID:0050870]
synonym: "bronchioloalveolar carcinoma" NARROW [NCIT:C136486]
synonym: "in situ pulmonary adenocarcinoma" RELATED [DOID:0050870]
synonym: "lung adenocarcinoma In situ" EXACT [NCIT:C136486]
synonym: "lung adenosquamous cell carcinoma in situ" RELATED [NCIT:C8748]
synonym: "stage 0 adenosquamous cell carcinoma of lung" RELATED [NCIT:C8748]
synonym: "stage 0 adenosquamous cell carcinoma of the lung" RELATED [NCIT:C8748]
synonym: "stage 0 adenosquamous cell lung carcinoma" RELATED [NCIT:C8748]
synonym: "stage 0 adenosquamous lung cancer" RELATED [NCIT:C8748]
synonym: "stage 0 adenosquamous lung carcinoma aJCC v6" RELATED [NCIT:C8748]
synonym: "stage 0 adenosquamous lung carcinoma aJCC v6 and v7" RELATED [NCIT:C8748]
synonym: "stage 0 adenosquamous lung carcinoma aJCC v7" RELATED [NCIT:C8748]
xref: DOID:0050870 {source="MONDO:equivalentTo"}
xref: MEDGEN:1620128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C136486 {source="MONDO:equivalentTo"}
xref: NCIT:C8748 {source="MONDO:relatedTo"}
xref: ONCOTREE:LAIS {source="MONDO:equivalentTo"}
xref: UMLS:C4521520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620128"}
is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C136486"} ! adenocarcinoma in situ
is_a: MONDO:0004660 {source="MONDO:Redundant", source="NCIT:C8748/inferred"} ! lung carcinoma in situ
is_a: MONDO:0005061 {source="MONDO:Redundant", source="NCIT:C136486"} ! lung adenocarcinoma
intersection_of: MONDO:0003218 ! adenocarcinoma in situ
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0000504
name: obsolete follicular lymphoma
is_obsolete: true
replaced_by: MONDO:0018906

[Term]
id: MONDO:0000505
name: obsolete small cell neuroendocrine carcinoma
is_obsolete: true
replaced_by: MONDO:0000402

[Term]
id: MONDO:0000506
name: obsolete Caroli disease
is_obsolete: true
replaced_by: MONDO:0010913

[Term]
id: MONDO:0000507
name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
def: "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." [Orphanet:52430]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10899", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52430"}
subset: orphanet_rare {source="Orphanet:52430"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IBMPFD" EXACT ABBREVIATION [DOID:0050881, Orphanet:52430]
synonym: "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia" RELATED [GARD:0010899]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia" EXACT []
synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT [DOID:0050881]
synonym: "inclusion body myopathy/Paget disease/frontotemporal dementia" EXACT [OMIMPS:167320]
synonym: "limb-girdle muscular dystrophy with Paget disease of bone" EXACT [Orphanet:52430]
synonym: "pagetoid amyotrophic lateral sclerosis" EXACT [Orphanet:52430]
synonym: "pagetoid neuroskeletal syndrome" EXACT [OMIM:167320, Orphanet:52430]
xref: DOID:0050881 {source="MONDO:equivalentTo"}
xref: GARD:10899 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:52430", source="Orphanet:52430/attributed", source="Orphanet:52430/ntbt"}
xref: MEDGEN:322251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:167320 {source="MONDO:equivalentTo"}
xref: Orphanet:52430 {source="MONDO:equivalentTo"}
xref: SCTID:703544004 {source="MONDO:equivalentTo"}
xref: UMLS:C1833662 {source="MEDGEN:322251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0050881"} ! syndromic disease
is_a: MONDO:0016112 {source="Orphanet:52430"} ! hereditary inclusion-body myopathy
is_a: MONDO:0017276 {source="https://orcid.org/0000-0001-5208-3432"} ! frontotemporal dementia
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:52430", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:167320"} ! inherited

[Term]
id: MONDO:0000508
name: syndromic intellectual disability
def: "A intellectual disability that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "syndrome associated with intellectual disability" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic intellectual disability" EXACT CLINGEN_LABEL [MONDO:patterns/syndromic]
xref: DOID:0050888 {source="MONDO:equivalentTo"}
xref: MEDGEN:1842178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5680525 {source="MONDO:equivalentTo", source="MEDGEN:1842178", source="MONDO:MEDGEN"}
is_a: MONDO:0001071 {source="DOID:0050888", source="MONDO:Entailed", source="MONDO:Redundant"} ! intellectual disability
intersection_of: MONDO:0001071 ! intellectual disability
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0000509
name: non-syndromic intellectual disability
def: "An intellectual disability that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "isolated intellectual disability" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic intellectual disability" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: DOID:0050889 {source="MONDO:equivalentTo"}
is_a: MONDO:0001071 {source="DOID:0050889", source="MONDO:Entailed", source="MONDO:Redundant"} ! intellectual disability
intersection_of: MONDO:0001071 ! intellectual disability
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0000510
name: synucleinopathy
def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" [DOID:0050890]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alpha synucleinopathies" RELATED [DOID:0050890]
synonym: "synucleinopathies" RELATED [DOID:0050890]
xref: DOID:0050890 {source="MONDO:equivalentTo"}
xref: MEDGEN:1682194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000080874 {source="MONDO:equivalentTo"}
xref: UMLS:C5191670 {source="MONDO:equivalentTo", source="MEDGEN:1682194", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="DOID:0050890", source="MONDO:Redundant"} ! neurodegenerative disease
is_a: MONDO:0021179 {source="MESH:D000080874", source="UMLS:C5191670"} ! proteostasis deficiencies
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11138 ! SNCA

[Term]
id: MONDO:0000511
name: obsolete gallbladder adenoma
is_obsolete: true
replaced_by: MONDO:0006216

[Term]
id: MONDO:0000512
name: obsolete ameloblastoma
is_obsolete: true
replaced_by: MONDO:0017795

[Term]
id: MONDO:0000513
name: bone ameloblastoma
def: "A ameloblastoma that involves the bone tissue." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ameloblastoma of bone tissue" EXACT [MONDO:design_pattern]
synonym: "bone tissue ameloblastoma" EXACT [MONDO:patterns/location]
xref: DOID:0050895 {source="MONDO:equivalentTo"}
is_a: MONDO:0000631 {source="DOID:0050895", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone benign neoplasm
intersection_of: MONDO:0017795 ! ameloblastoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0000514
name: bone squamous cell carcinoma
def: "A squamous cell carcinoma that involves the bone tissue." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone tissue squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050896 {source="MONDO:equivalentTo"}
is_a: MONDO:0002415 {source="DOID:0050896", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0000515
name: bone chondrosarcoma
def: "A chondrosarcoma (disease) that involves the bone tissue." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone tissue chondrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "chondrosarcoma (disease) of bone tissue" EXACT []
xref: DOID:0050897 {source="MONDO:equivalentTo"}
xref: MEDGEN:756255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3163843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:756255"}
is_a: MONDO:0008977 {source="DOID:0050897", source="MONDO:Redundant"} ! chondrosarcoma
intersection_of: MONDO:0008977 ! chondrosarcoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0000516
name: phalanx chondroma
def: "A chondroma that involves the phalanx." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "phalanx chondroma" EXACT [MONDO:patterns/location]
xref: DOID:0050898 {source="MONDO:equivalentTo"}
is_a: MONDO:0000631 {source="DOID:0050898"} ! bone benign neoplasm
is_a: MONDO:0002360 {source="DOID:0050898", source="MONDO:Entailed", source="MONDO:Redundant"} ! chondroma
intersection_of: MONDO:0002360 ! chondroma
intersection_of: disease_has_location UBERON:0003221 ! phalanx

[Term]
id: MONDO:0000517
name: brain stem medulloblastoma
def: "A medulloblastoma that involves the brainstem." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brainstem medulloblastoma" EXACT [MONDO:patterns/location]
synonym: "medulloblastoma of brainstem" EXACT [MONDO:design_pattern]
xref: DOID:0050899 {source="MONDO:equivalentTo"}
is_a: MONDO:0007959 {source="DOID:0050899", source="MONDO:Entailed", source="MONDO:Redundant"} ! medulloblastoma
intersection_of: MONDO:0007959 ! medulloblastoma
intersection_of: disease_has_location UBERON:0002298 ! brainstem
relationship: excluded_subClassOf MONDO:0002912 {source="DOID:0050899", source="https://orcid.org/0000-0001-5208-3432"} ! brainstem cancer

[Term]
id: MONDO:0000518
name: sacrum chordoma
def: "A chordoma (disease) that involves the fused sacrum." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chordoma (disease) of fused sacrum" EXACT []
synonym: "fused sacrum chordoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:0050900 {source="MONDO:equivalentTo"}
xref: MEDGEN:756688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:447730004 {source="MONDO:equivalentTo"}
xref: UMLS:C3164279 {source="MEDGEN:756688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002894 {source="DOID:0050900"} ! spinal chordoma
intersection_of: MONDO:0008978 ! chordoma
intersection_of: disease_has_location UBERON:0003690 ! fused sacrum

[Term]
id: MONDO:0000519
name: corpus callosum oligodendroglioma
def: "A oligodendroglioma that involves the corpus callosum." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corpus callosum oligodendroglioma" EXACT [MONDO:patterns/location]
synonym: "oligodendroglioma of corpus callosum" EXACT [MONDO:design_pattern]
xref: DOID:0050901 {source="MONDO:equivalentTo"}
is_a: MONDO:0002544 {source="DOID:0050901", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain oligodendroglioma
intersection_of: MONDO:0016695 ! oligodendroglioma
intersection_of: disease_has_location UBERON:0002336 ! corpus callosum

[Term]
id: MONDO:0000520
name: parietal lobe ependymal tumor
def: "An ependymal tumor affecting the parietal lobe of the brain." [NCIT:C131575]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ependymal tumor of parietal lobe" EXACT [MONDO:design_pattern]
synonym: "ependymal tumour of parietal lobe" EXACT OMO:0003005 []
synonym: "parietal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131575]
synonym: "parietal lobe ependymoma" RELATED [DOID:0050903]
xref: DOID:0050903 {source="MONDO:equivalentTo"}
xref: MEDGEN:1392382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131575 {source="MONDO:equivalentTo"}
xref: UMLS:C4330935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392382"}
is_a: MONDO:0004245 {source="MONDO:Redundant", source="NCIT:C131575"} ! ependymal tumor of brain
is_a: MONDO:0021373 {source="MONDO:Redundant", source="NCIT:C131575"} ! neoplasm of parietal lobe
intersection_of: MONDO:0003266 ! ependymal tumor
intersection_of: disease_has_location UBERON:0001872 ! parietal lobe

[Term]
id: MONDO:0000521
name: salivary gland carcinoma
def: "A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma." [NCIT:C9272]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of saliva-secreting gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of salivary gland" EXACT [NCIT:C9272]
synonym: "carcinoma of the salivary gland" EXACT [NCIT:C9272]
synonym: "saliva-secreting gland carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary carcinoma" RELATED [ONCOTREE:SACA]
synonym: "salivary gland cancer" BROAD [NCIT:C9272]
synonym: "salivary gland carcinoma" EXACT [NCIT:C9272]
xref: DOID:0050904 {source="MONDO:equivalentTo"}
xref: MEDGEN:215302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200076 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9272 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SACA {source="MONDO:equivalentTo"}
xref: UMLS:C0948750 {source="MEDGEN:215302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C9272"} ! head and neck carcinoma
is_a: MONDO:0004669 {source="DOID:0050904", source="MONDO:Redundant", source="NCIT:C9272"} ! salivary gland cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0000522
name: obsolete inflammatory myofibroblastic tumor
is_obsolete: true
replaced_by: MONDO:0015798

[Term]
id: MONDO:0000523
name: obsolete conjunctival nevus
is_obsolete: true
replaced_by: MONDO:0006172

[Term]
id: MONDO:0000524
name: mixed extragonadal germ cell cancer
def: "A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle." [DOID:0050907, http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed, http://www.cancer.gov/dictionary?CdrID=444993]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:0050907 {source="MONDO:equivalentTo"}
is_a: MONDO:0006290 {source="MONDO:0000524/inferred"} ! malignant germ cell tumor
is_a: MONDO:0015864 {source="DOID:0050907", source="MONDO:Redundant"} ! mixed germ cell tumor
intersection_of: MONDO:0003113 ! extragonadal germ cell cancer
intersection_of: MONDO:0015864 ! mixed germ cell tumor

[Term]
id: MONDO:0000525
name: cecum villous adenoma
def: "A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C5520]
subset: otar {source="MONDO:OTAR"}
synonym: "caecum adenoma" RELATED [DOID:0050910]
synonym: "caecum villous adenoma" EXACT [MONDO:patterns/location]
synonym: "cecal villous adenoma" EXACT [NCIT:C5520]
synonym: "cecum adenoma" BROAD [DOID:0050910]
synonym: "cecum villous adenoma" EXACT [NCIT:C5520]
synonym: "villous adenoma of cecum" EXACT [NCIT:C5520]
synonym: "villous adenoma of the cecum" EXACT [NCIT:C5520]
xref: DOID:0050910 {source="MONDO:equivalentTo"}
xref: EFO:1000155 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5520 {source="EFO:1000155", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332869 {source="MEDGEN:272438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000527 {source="MONDO:Redundant", source="NCIT:C5520/inferred"} ! colon adenoma
is_a: MONDO:0005694 {source="DOID:0050910", source="MONDO:Redundant", source="NCIT:C5520"} ! cecal neoplasm
is_a: MONDO:0021271 {source="MONDO:Redundant", source="NCIT:C5520"} ! villous adenoma of colon
intersection_of: MONDO:0000502 ! villous adenoma
intersection_of: disease_has_location UBERON:0001153 ! caecum
relationship: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0000526
name: obsolete appendix carcinoid tumor
def: "OBSOLETE. A carcinoid tumor (disease) that involves the vermiform appendix." [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0006091

[Term]
id: MONDO:0000527
name: colon adenoma
def: "An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of colon" EXACT [NCIT:C3864]
synonym: "adenoma of the colon" EXACT [NCIT:C3864]
synonym: "colon adenoma" EXACT [MONDO:patterns/location, NCIT:C3864]
synonym: "colonic adenoma" EXACT [NCIT:C3864]
xref: DOID:0050912 {source="MONDO:equivalentTo"}
xref: MEDGEN:1639098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3864 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C4551463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639098"}
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C3864"} ! colonic neoplasm
is_a: MONDO:0005484 {source="MONDO:Redundant", source="NCIT:C3864"} ! colorectal adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0001155 ! colon
relationship: excluded_subClassOf MONDO:0002278 {source="DOID:0050912", source="https://orcid.org/0000-0001-5208-3432"} ! benign colon neoplasm

[Term]
id: MONDO:0000528
name: obsolete MONDO:0000528
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005008

[Term]
id: MONDO:0000529
name: obsolete MONDO:0000529
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005484

[Term]
id: MONDO:0000530
name: rectum adenoma
def: "An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of rectum" EXACT [NCIT:C5546]
synonym: "adenoma of the rectum" EXACT [NCIT:C5546]
synonym: "rectal adenoma" EXACT [NCIT:C5546]
synonym: "rectum adenoma" EXACT [MONDO:patterns/location]
xref: DOID:0050915 {source="MONDO:equivalentTo"}
xref: MEDGEN:266267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5546 {source="MONDO:equivalentTo"}
xref: SCTID:399730005 {source="MONDO:equivalentTo"}
xref: UMLS:C1302652 {source="MONDO:equivalentTo", source="MEDGEN:266267", source="MONDO:MEDGEN"}
is_a: MONDO:0002165 {source="DOID:0050915", source="MONDO:Redundant", source="NCIT:C5546"} ! rectal neoplasm
is_a: MONDO:0005484 {source="MONDO:Redundant", source="NCIT:C5546"} ! colorectal adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0000531
name: bronchus mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma that involves the bronchus." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bronchus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050916 {source="MONDO:equivalentTo"}
is_a: MONDO:0002806 {source="DOID:0050916", source="MONDO:Entailed", source="MONDO:Redundant"} ! bronchogenic carcinoma
is_a: MONDO:0003036 {source="DOID:0050916", source="MONDO:Redundant"} ! mucoepidermoid carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0002185 ! bronchus

[Term]
id: MONDO:0000532
name: lung combined type small cell adenocarcinoma
def: "A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin." [DOID:0050917, http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma, http://www.cancer.gov/dictionary?CdrID=45327, http://www.cancer.gov/dictionary?CdrID=46216]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0050917 {source="MONDO:equivalentTo"}
xref: MEDGEN:231029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1332165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231029"}
is_a: MONDO:0003438 {source="DOID:0050917", source="MONDO:Entailed", source="MONDO:Redundant"} ! combined small cell lung carcinoma
intersection_of: MONDO:0003438 ! combined small cell lung carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma

[Term]
id: MONDO:0000533
name: obsolete vaginal carcinoma
is_obsolete: true
replaced_by: MONDO:0015867

[Term]
id: MONDO:0000534
name: trachea mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma that involves the trachea." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "trachea mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050919 {source="MONDO:equivalentTo"}
xref: MEDGEN:835970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:707379000 {source="MONDO:equivalentTo"}
xref: UMLS:C3873401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:835970"}
is_a: MONDO:0003036 {source="DOID:0050919", source="MONDO:Redundant"} ! mucoepidermoid carcinoma
is_a: MONDO:0003184 {source="DOID:0050919", source="MONDO:Entailed", source="MONDO:Redundant"} ! trachea carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0000535
name: obsolete tonsil squamous cell carcinoma
subset: otar {source="MONDO:OTAR"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7134" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006470

[Term]
id: MONDO:0000536
name: pharyngeal squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the pharynx." [NCIT:C102872]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma" EXACT [NCIT:C102872]
synonym: "pharyngeal squam. cell carcinoma" EXACT [NCIT:C102872]
synonym: "pharyngeal squamous cell carcinoma" EXACT [NCIT:C102872]
synonym: "pharyngeal throat squamous cell cancer" EXACT [NCIT:C102872]
synonym: "pharynx squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050921 {source="MONDO:equivalentTo"}
xref: EFO:1001965 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:728086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C102872 {source="MONDO:equivalentTo"}
xref: SCTID:408649007 {source="MONDO:equivalentTo"}
xref: UMLS:C1319317 {source="MONDO:equivalentTo", source="MEDGEN:728086", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:0050921", source="MONDO:Entailed", source="NCIT:C102872/inferred"} ! squamous cell carcinoma
is_a: MONDO:0005517 {source="DOID:0050921", source="EFO:1001965", source="MONDO:Redundant", source="NCIT:C102872/inferred"} ! pharynx cancer
is_a: MONDO:0010150 {source="MONDO:Redundant", source="NCIT:C102872"} ! head and neck squamous cell carcinoma
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C102872"} ! carcinoma of pharynx
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001042 ! chordate pharynx
intersection_of: disease_has_location UBERON:0006562 ! pharynx

[Term]
id: MONDO:0000537
name: obsolete gastrointestinal carcinoma
synonym: "obsolete gastrointestinal carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete gastrointestinal carcinoma (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0006181

[Term]
id: MONDO:0000538
name: obsolete spindle epithelial tumor with thymus-like differentiation tumor
is_obsolete: true
replaced_by: MONDO:0006466

[Term]
id: MONDO:0000539
name: striated muscle rhabdoid tumor
def: "A rhabdoid tumor that involves the striated muscle tissue." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "striated muscle tissue rhabdoid tumor" EXACT [MONDO:patterns/location]
synonym: "striated muscle tissue rhabdoid tumour" EXACT OMO:0003005 []
xref: DOID:0050924 {source="MONDO:equivalentTo"}
is_a: MONDO:0005864 {source="DOID:0050924", source="MONDO:Entailed", source="MONDO:Redundant"} ! muscle cancer
intersection_of: MONDO:0002728 ! rhabdoid tumor
intersection_of: disease_has_location UBERON:0002036 ! striated muscle tissue

[Term]
id: MONDO:0000540
name: small intestinal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4638]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid tumor of small bowel" EXACT [NCIT:C4638]
synonym: "carcinoid tumor of small intestine" EXACT [NCIT:C4638]
synonym: "carcinoid tumor of the small bowel" EXACT [NCIT:C4638]
synonym: "carcinoid tumor of the small intestine" EXACT [NCIT:C4638]
synonym: "carcinoid tumour of small bowel" EXACT OMO:0003005 []
synonym: "carcinoid tumour of small intestine" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the small bowel" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the small intestine" EXACT OMO:0003005 []
synonym: "grade 1 neuroendocrine neoplasm of small intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "small bowel carcinoid tumor" EXACT [NCIT:C4638]
synonym: "small bowel carcinoid tumour" EXACT OMO:0003005 []
synonym: "small intestinal carcinoid tumor" EXACT [NCIT:C4638]
synonym: "small intestinal carcinoid tumour" EXACT OMO:0003005 []
synonym: "small intestinal NET G1" EXACT [NCIT:C4638]
synonym: "small intestinal neuroendocrine tumor G1" EXACT [NCIT:C4638]
synonym: "small intestine carcinoid neuroendocrine tumor" RELATED [DOID:0050925]
synonym: "small intestine carcinoid neuroendocrine tumour" RELATED OMO:0003005 []
synonym: "small intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4638]
synonym: "small intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "small intestine carcinoid tumour" EXACT OMO:0003005 []
synonym: "small intestine carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "small intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "small intestine neuroendocrine neoplasm G1" EXACT []
synonym: "small intestine neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: DOID:0050925 {source="MONDO:equivalentTo"}
xref: MEDGEN:91150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4638 {source="MONDO:equivalentTo"}
xref: SCTID:276818002 {source="MONDO:equivalentTo"}
xref: UMLS:C0349536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91150"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C4638"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C4638"} ! intestinal neuroendocrine tumor G1
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002108 ! small intestine
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0000541
name: jejunal adenocarcinoma
def: "A adenocarcinoma that involves the jejunum." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "jejunal adenocarcinoma" EXACT [MONDO:ambiguous]
synonym: "jejunal adenocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "jejunum adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050926 {source="MONDO:equivalentTo"}
xref: HP:0030411 {source="MONDO:otherHierarchy"}
xref: MEDGEN:893029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C181158 {source="MONDO:equivalentTo"}
xref: UMLS:C4072935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:893029"}
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002115 ! jejunum
property_value: IAO:0000589 "jejunal adenocarcinoma (disease)" xsd:string

[Term]
id: MONDO:0000542
name: obsolete duodenum adenoma
is_obsolete: true
replaced_by: MONDO:0006187

[Term]
id: MONDO:0000543
name: ovarian melanoma
def: "A melanoma (disease) that involves the ovary." [MONDO:patterns/location]
synonym: "melanoma (disease) of ovary" RELATED []
synonym: "metastatic melanoma of ovary" EXACT []
synonym: "ovary melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "ovary metastatic melanoma" EXACT [MONDO:patterns/location]
xref: DOID:0050928 {source="MONDO:equivalentTo"}
xref: MEDGEN:1790038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C178441 {source="MONDO:equivalentTo"}
xref: UMLS:C4761026 {source="MEDGEN:1790038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005191 ! metastatic melanoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0000544
name: mucosal melanoma
def: "A melanoma that arises from a mucosal site." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "mucosal melanoma" EXACT [NCIT:C114828]
xref: DOID:0050929 {source="MONDO:equivalentTo"}
xref: MEDGEN:857816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114828 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C3898222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:857816"}
is_a: MONDO:0006320 {source="NCIT:C114828"} ! non-cutaneous melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_arises_from_structure UBERON:0000344 ! mucosa

[Term]
id: MONDO:0000545
name: sublingual gland adenoid cystic carcinoma
def: "A adenoid cystic carcinoma that involves the sublingual gland." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sublingual gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050930 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001832 ! sublingual gland

[Term]
id: MONDO:0000546
name: obsolete parotid gland adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006356

[Term]
id: MONDO:0000547
name: obsolete ovarian serous carcinoma
is_obsolete: true
replaced_by: MONDO:0005211

[Term]
id: MONDO:0000548
name: ovarian clear cell cancer
def: "An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells." [NCIT:C40077]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "clear-cell ovarian carcinoma" EXACT [DOID:0050934]
synonym: "malignant ovarian clear cell neoplasm" EXACT [NCIT:C40077]
synonym: "malignant ovarian clear cell tumor" EXACT [NCIT:C40077]
synonym: "malignant ovarian clear cell tumour" EXACT OMO:0003005 []
synonym: "ovarian clear cell carcinoma" RELATED [DOID:0050934]
xref: DOID:0050934 {source="MONDO:equivalentTo", source="MONDO:generalized-by-cjm"}
xref: MEDGEN:276544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40077 {source="MONDO:equivalentTo"}
xref: UMLS:C1518230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276544"}
is_a: MONDO:0018364 {source="DOID:0050934/inferred", source="NCIT:C40077"} ! malignant epithelial tumor of ovary
is_a: MONDO:0021144 {source="NCIT:C40077"} ! ovarian clear cell tumor

[Term]
id: MONDO:0000549
name: cervical neuroblastoma
def: "A relatively uncommon neuroblastoma that is found in the neck." [PMID:23120455]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neck neuroblastoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "neuroblastoma of neck" EXACT [MONDO:design_pattern]
xref: DOID:0050935 {source="MONDO:equivalentTo"}
is_a: MONDO:0002749 {source="DOID:0050935"} ! extracranial neuroblastoma
intersection_of: MONDO:0005072 ! neuroblastoma
intersection_of: disease_has_location UBERON:0000974 ! neck

[Term]
id: MONDO:0000550
name: extra-adrenal sympathetic paraganglioma
def: "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas." [NCIT:C48576]
comment: Editor note: DO classifies as cancer but we treat as neutral
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "extra-adrenal chromaffin neoplasm" EXACT [EFO:0000489, NCIT:C48576]
synonym: "extra-adrenal Chromaffinoma" EXACT [EFO:0000489, NCIT:C48576]
synonym: "extra-adrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576]
synonym: "extra-adrenal sympathetic paraganglioma" EXACT [NCIT:C48576]
synonym: "extra-adrenal sympathetic Paraganglionic neoplasm" EXACT [EFO:0000489, NCIT:C48576]
synonym: "extraadrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576]
xref: DOID:0050936 {source="MONDO:equivalentTo"}
xref: EFO:0000489 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:263453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C48576 {source="MONDO:equivalentTo"}
xref: UMLS:C1257877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:263453"}
is_a: MONDO:0021072 {source="NCIT:C48576"} ! sympathetic paraganglioma
relationship: disease_disrupts GO:0050432 {source="https://orcid.org/0000-0002-6601-2165"} ! catecholamine secretion
relationship: disease_has_location UBERON:0000013 {source="EFO:0000489"} ! sympathetic nervous system

[Term]
id: MONDO:0000551
name: retroperitoneal neuroblastoma
def: "A neuroblastoma that involves the retroperitoneal space." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuroblastoma of retroperitoneal space" EXACT []
synonym: "retroperitoneal space neuroblastoma" EXACT [MONDO:patterns/location]
xref: DOID:0050937 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2211613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843500"}
intersection_of: MONDO:0005072 ! neuroblastoma
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space

[Term]
id: MONDO:0000552
name: breast lobular carcinoma
def: "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal." [NCIT:C3771]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of lobule of mammary gland" EXACT [MONDO:patterns/carcinoma]
synonym: "lobular adenocarcinoma" EXACT [NCIT:C3771]
synonym: "lobular breast carcinoma" EXACT [NCIT:C3771]
synonym: "lobular carcinoma" EXACT [NCIT:C3771]
synonym: "lobular carcinoma of breast" EXACT [NCIT:C3771]
synonym: "lobular carcinoma of the breast" EXACT [NCIT:C3771]
synonym: "lobule of mammary gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050938 {source="MONDO:equivalentTo"}
xref: EFO:0008509 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8520/3 {source="NCIT:C3771"}
xref: MEDGEN:64634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3771 {source="MONDO:equivalentTo"}
xref: SCTID:278054005 {source="MONDO:equivalentTo"}
xref: UMLS:C0206692 {source="MEDGEN:64634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004988 {source="NCIT:C3771"} ! breast adenocarcinoma
is_a: MONDO:0004989 {source="DOID:0050938", source="EFO:0008509", source="NCIT:C3771/inferred"} ! breast carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001912 ! lobule of mammary gland

[Term]
id: MONDO:0000553
name: uterine corpus endometrial carcinoma
def: "A endometrial carcinoma (disease) that involves the body of uterus." [MONDO:patterns/location]
synonym: "body of uterus endometrial carcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "endometrial carcinoma (disease) of body of uterus" EXACT []
xref: DOID:0050939 {source="MONDO:equivalentTo"}
is_a: MONDO:0006003 {source="DOID:0050939", source="MONDO:Entailed", source="MONDO:Redundant"} ! uterine corpus cancer
intersection_of: MONDO:0002447 ! endometrial carcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0000554
name: endocervical adenocarcinoma
def: "An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei." [NCIT:C127907]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endocervical adenocarcinoma, usual type" EXACT [NCIT:C127907]
synonym: "endocervix adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050940 {source="MONDO:equivalentTo"}
xref: MEDGEN:688039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C127907 {source="MONDO:equivalentTo"}
xref: NCIT:C28327 {source="ONCOTREE:ECAD"}
xref: ONCOTREE:ECAD {source="MONDO:equivalentTo"}
xref: SCTID:123842006 {source="MONDO:equivalentTo"}
xref: UMLS:C1263762 {source="MEDGEN:688039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004259 {source="DOID:0050940", source="MONDO:Redundant", source="NCIT:C127907"} ! endocervical carcinoma
is_a: MONDO:0005153 {source="NCIT:C127907", source="ONCOTREE:ECAD"} ! cervical adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000458 ! endocervix

[Term]
id: MONDO:0000555
name: obsolete autosomal recessive hypophosphatemic rickets
is_obsolete: true
replaced_by: MONDO:0017324

[Term]
id: MONDO:0000556
name: obsolete autosomal recessive cerebellar ataxia
is_obsolete: true
replaced_by: MONDO:0015244

[Term]
id: MONDO:0000557
name: obsolete hereditary ataxia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2866" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100309

[Term]
id: MONDO:0000558
name: obsolete spastic ataxia
is_obsolete: true
replaced_by: MONDO:0017845

[Term]
id: MONDO:0000559
name: obsolete MONDO:0000559
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016612

[Term]
id: MONDO:0000560
name: obsolete spinocerebellar ataxia type 4
is_obsolete: true
replaced_by: MONDO:0010847

[Term]
id: MONDO:0000561
name: obsolete spinocerebellar ataxia type 16
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011694

[Term]
id: MONDO:0000562
name: obsolete hypomyelinating leukoencephalopathy
xref: DOID:0050987 {source="MONDO:relatedTo"}
is_obsolete: true

[Term]
id: MONDO:0000563
name: GRID2-related autosomal dominant spinocerebellar ataxia
comment: the DO class DOID:0050988 is named 'GRID2-related spinocerebellar ataxia' and it is asserted to be AD. Most GRID18 mutations are AR, but it is rarelt AD [https://www.ncbi.nlm.nih.gov/books/NBK1138/; Coutelier et al [2015b]]. Here we assume the DO class refers to the rare AD form. Consider merging.
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "GRID2-related spinocerebellar ataxia" RELATED [DOID:0050988]
xref: DOID:0050988 {source="MONDO:equivalentTo"}
is_a: MONDO:0020380 {source="DOID:0050988"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0000564
name: obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome
is_obsolete: true
replaced_by: MONDO:0009133

[Term]
id: MONDO:0000565
name: infective endocarditis
def: "Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue." [https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis]
subset: gard_rare {source="GARD:6337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1091"}
subset: ordo_disorder {source="Orphanet:570762"}
subset: orphanet_rare {source="Orphanet:570762"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endocarditis infective" EXACT [NCIT:C78265]
synonym: "endocarditis, infective" RELATED [GARD:0006337]
xref: DOID:0060000 {source="MONDO:equivalentTo"}
xref: GARD:6337 {source="MONDO:GARD"}
xref: icd11.foundation:512128824 {source="MONDO:equivalentTo", source="Orphanet:570762", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:323818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78265 {source="MONDO:equivalentTo"}
xref: NORD:1091 {source="MONDO:NORD"}
xref: Orphanet:570762 {source="MONDO:equivalentTo"}
xref: SCTID:233850007 {source="MONDO:equivalentTo"}
xref: UMLS:C1541923 {source="MEDGEN:323818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005025 {source="DOID:0060000", source="MONDO:Redundant", source="NCIT:C78265"} ! endocarditis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0002165 ! endocardium
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis" xsd:anyURI {source="GARD:0006337"}

[Term]
id: MONDO:0000566
name: obsolete substance withdrawal disorder
is_obsolete: true
replaced_by: MONDO:0005567

[Term]
id: MONDO:0000567
name: obsolete C1 inhibitor deficiency
is_obsolete: true
replaced_by: MONDO:0007361

[Term]
id: MONDO:0000568
name: autoimmune disorder of central nervous system
def: "A hypersensitivity reaction type II disease that involves the central nervous system." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "central nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "central nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060004 {source="MONDO:equivalentTo"}
xref: EFO:0020092 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0002602 {source="DOID:0060004", source="MONDO:Redundant"} ! central nervous system disorder
is_a: MONDO:0002977 {source="DOID:0060004", source="MONDO:Redundant"} ! autoimmune disorder of the nervous system
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0000569
name: autoimmune disorder of endocrine system
def: "A hypersensitivity reaction type II disease that involves the endocrine system." [MONDO:patterns/location]
synonym: "endocrine system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "endocrine system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060005 {source="MONDO:equivalentTo"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237822008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342552 {source="MEDGEN:575099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="DOID:0060005", source="MONDO:Redundant"} ! endocrine system disorder
is_a: MONDO:0007179 {source="DOID:0060005", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0000949 ! endocrine system

[Term]
id: MONDO:0000570
name: obsolete severe combined immunodeficiency due to artemis deficiency
is_obsolete: true
replaced_by: MONDO:0011225

[Term]
id: MONDO:0000571
name: obsolete CD3zeta deficiency
is_obsolete: true
replaced_by: MONDO:0012426

[Term]
id: MONDO:0000572
name: recombinase activating gene 1 deficiency
def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [DOID:0060011, http://bioinf.uta.fi/RAG1base/, http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "recombinase activating gene 1 deficiency" EXACT CLINGEN_LABEL []
xref: DOID:0060011 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="DOID:0060011"} ! severe combined immunodeficiency

[Term]
id: MONDO:0000573
name: recombinase activating gene 2 deficiency
def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." [DOID:0060012, http://bioinf.uta.fi/RAG2base/, http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "recombinase activating gene 2 deficiency" EXACT CLINGEN_LABEL []
xref: DOID:0060012 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="DOID:0060012"} ! severe combined immunodeficiency

[Term]
id: MONDO:0000574
name: obsolete CD45 deficiency
is_obsolete: true
replaced_by: MONDO:0015702

[Term]
id: MONDO:0000575
name: obsolete MONDO:0000575
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015701

[Term]
id: MONDO:0000576
name: obsolete CD3delta deficiency
is_obsolete: true
replaced_by: MONDO:0014280

[Term]
id: MONDO:0000577
name: congenital anemia
def: "Anemia, the cause of which is present at birth." [NCIT:C35228]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital anaemia (disease)" EXACT OMO:0003005 []
synonym: "congenital anemia" EXACT [NCIT:C35228]
synonym: "congenital anemia (disease)" EXACT [MONDO:patterns/congenital]
xref: MEDGEN:102361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35228 {source="MONDO:equivalentTo"}
xref: SCTID:63565007 {source="MONDO:equivalentTo"}
xref: UMLS:C0158995 {source="MEDGEN:102361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009332 {source="NCIT:C35228"} ! congenital hematological disorder
intersection_of: MONDO:0002280 ! anemia
intersection_of: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0000578
name: obsolete CD3gamma deficiency
is_obsolete: true
replaced_by: MONDO:0014276

[Term]
id: MONDO:0000579
name: obsolete coronin-1A deficiency
is_obsolete: true
replaced_by: MONDO:0014168

[Term]
id: MONDO:0000580
name: obsolete CD40 ligand deficiency
is_obsolete: true
replaced_by: MONDO:0010626

[Term]
id: MONDO:0000581
name: obsolete lambda 5 deficiency
comment: This was considered a duplicate.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/383" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013287

[Term]
id: MONDO:0000582
name: obsolete immunoglobulin alpha deficiency
is_obsolete: true
replaced_by: MONDO:0000048

[Term]
id: MONDO:0000583
name: immunoglobulin beta deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "IgB deficiency" RELATED [DOID:0060026]
xref: DOID:0060026 {source="MONDO:equivalentTo"}
xref: MEDGEN:502457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567200 {source="MONDO:equivalentTo"}
xref: UMLS:C3502055 {source="MEDGEN:502457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002211 {source="DOID:0060026"} ! B cell deficiency

[Term]
id: MONDO:0000584
name: B cell linker protein deficiency
def: "A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation." [DOID:0060027, http://bioinf.uta.fi/BLNKbase/, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515, http://www.ncbi.nlm.nih.gov/gene/2]
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0013289 agammaglobulinemia 4, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "B-cell linker protein deficiency" EXACT [DOID:0060027]
synonym: "BLNK deficiency" EXACT [DOID:0060027]
xref: DOID:0060027 {source="MONDO:equivalentTo"}
is_a: MONDO:0015977 {source="DOID:0060027"} ! agammaglobulinemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7612" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0000585
name: obsolete Good syndrome
is_obsolete: true
replaced_by: MONDO:0015696

[Term]
id: MONDO:0000586
name: autoimmune disorder of exocrine system
def: "A hypersensitivity reaction type II disease that involves the exocrine system." [MONDO:patterns/location]
synonym: "exocrine system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "exocrine system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060029 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DOID:0060029", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0002330 ! exocrine system

[Term]
id: MONDO:0000587
name: autoimmune disease of ear, nose and throat
def: "An autoimmune form of otorhinolaryngologic disease." [MONDO:patterns/autoimmune]
comment: Editor note: ENT typically excludes eye, but the DOID class includes this
synonym: "autoimmune disease of eyes, ear, nose and throat" RELATED [DOID:0060030]
synonym: "autoimmune otorhinolaryngologic disease" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060030 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DOID:0060030", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0024623 ! otorhinolaryngologic disease
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0000588
name: autoimmune disorder of gastrointestinal tract
def: "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system." [MONDO:patterns/location]
synonym: "alimentary part of gastrointestinal system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "alimentary part of gastrointestinal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
synonym: "autoimmune disease of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern]
xref: DOID:0060031 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DOID:0060031", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system

[Term]
id: MONDO:0000589
name: autoimmune disorder of musculoskeletal system
def: "A hypersensitivity reaction type II disease that involves the musculoskeletal system." [MONDO:patterns/location]
synonym: "musculoskeletal system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "musculoskeletal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060032 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="DOID:0060032", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disorder
is_a: MONDO:0007179 {source="DOID:0060032", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system

[Term]
id: MONDO:0000590
name: autoimmune disorder of peripheral nervous system
def: "A hypersensitivity reaction type II disease that involves the peripheral nervous system." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "peripheral nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "peripheral nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060033 {source="MONDO:equivalentTo"}
is_a: MONDO:0002977 {source="DOID:0060033", source="MONDO:Redundant"} ! autoimmune disorder of the nervous system
is_a: MONDO:0003620 {source="DOID:0060033", source="MONDO:Redundant"} ! peripheral nervous system disorder
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system

[Term]
id: MONDO:0000591
name: intrinsic cardiomyopathy
def: "A cardiomyopathy that is due to abnormalities in heart muscle cells." [https://www.emedicinehealth.com/cardiomyopathy/article_em.htm, Wikipedia:Cardiomyopathy]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intrinsic cardiomyopathy" EXACT CLINGEN_LABEL []
synonym: "primary cardiomyopathy" EXACT [Wikipedia:Cardiomyopathy]
xref: DOID:0060036 {source="MONDO:equivalentTo"}
is_a: MONDO:0004994 {source="DOID:0060036", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiomyopathy
intersection_of: MONDO:0004994 ! cardiomyopathy
intersection_of: disease_arises_from_structure CL:0002494 ! cardiocyte
disjoint_from: MONDO:0002824 ! extrinsic cardiomyopathy

[Term]
id: MONDO:0000592
name: specific developmental disorder
def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." [DOID:0060038, http://en.wikipedia.org/wiki/Specific_developmental_disorder]
subset: otar {source="MONDO:OTAR"}
synonym: "specific delays in development" RELATED []
synonym: "specific developmental disorder" EXACT []
xref: DOID:0060038 {source="MONDO:equivalentTo"}
xref: ICD10CM:F80-F89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:315.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:508157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:10720004 {source="MONDO:equivalentTo"}
xref: UMLS:C0037785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508157"}
is_a: MONDO:0005503 {source="DOID:0060038"} ! developmental disorder of mental health
disjoint_from: MONDO:0000594 {source="Wikipedia:Specific_developmental_disorder", source="https://orcid.org/0000-0002-6601-2165"} ! pervasive developmental disorder

[Term]
id: MONDO:0000593
name: obsolete autoimmune disease of skin and connective tissue
is_obsolete: true
replaced_by: MONDO:0017841

[Term]
id: MONDO:0000594
name: pervasive developmental disorder
def: "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions." [NCIT:C97179]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pervasive child development disorders" RELATED [MESH:D002659]
synonym: "pervasive development disorder" EXACT [DOID:0060040]
synonym: "pervasive development disorders" RELATED [MESH:D002659]
xref: DOID:0060040 {source="MONDO:equivalentTo"}
xref: ICD10CM:F80-F89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:299.80 {source="DOID:0060040"}
xref: MEDGEN:99336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002659 {source="MONDO:equivalentTo"}
xref: NCIT:C97179 {source="MONDO:equivalentTo"}
xref: SCTID:35919005 {source="MONDO:equivalentTo"}
xref: UMLS:C0524528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99336"}
is_a: MONDO:0005503 {source="DOID:0060040"} ! developmental disorder of mental health
is_a: MONDO:0100038 {source="https://orcid.org/0000-0002-6733-369X"} ! complex neurodevelopmental disorder

[Term]
id: MONDO:0000595
name: sexual and gender identity disorders
def: "A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle." [NCIT:C92202]
subset: otar {source="MONDO:OTAR"}
synonym: "sexual disorder" EXACT [DOID:0060043]
xref: DOID:0060043 {source="MONDO:equivalentTo"}
xref: MEDGEN:452303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92202 {source="MONDO:equivalentTo"}
xref: SCTID:231532002 {source="MONDO:equivalentTo"}
xref: UMLS:C0236989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452303"}
is_a: MONDO:0002025 {source="DOID:0060043", source="NCIT:C92202"} ! psychiatric disorder
relationship: disease_disrupts NBO:0000034 ! sexual activity

[Term]
id: MONDO:0000596
name: paraphilic disorder
def: "Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)" [MESH:D010262]
synonym: "deviation, Sex" RELATED [MESH:D010262]
synonym: "Deviations, Sex" RELATED [MESH:D010262]
synonym: "disorder of sexual preference" EXACT []
synonym: "disorder, Paraphilic" EXACT [MESH:D010262]
synonym: "disorders, Paraphilic" EXACT [MESH:D010262]
synonym: "paraphilia" RELATED [MESH:D010262]
synonym: "paraphilia disorder" EXACT [DOID:0060044]
synonym: "Paraphilias" RELATED [MESH:D010262]
synonym: "paraphilic disorder" EXACT [MESH:D010262]
synonym: "Sex deviation" RELATED [MESH:D010262]
synonym: "Sex Deviations" RELATED [MESH:D010262]
xref: DOID:0060044 {source="MONDO:equivalentTo"}
xref: MEDGEN:18299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010262 {source="MONDO:equivalentTo"}
xref: SCTID:50299009 {source="MONDO:equivalentTo"}
xref: UMLS:C0030482 {source="MEDGEN:18299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000595 {source="DOID:0060044", source="MONDO:Redundant"} ! sexual and gender identity disorders
is_a: MONDO:0000947 {source="https://orcid.org/0000-0002-6601-2165"} ! psychosexual disorder
is_a: MONDO:0002025 {source="MESH:D010262", source="MONDO:Redundant"} ! psychiatric disorder

[Term]
id: MONDO:0000597
name: Munchausen by proxy
def: "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." [DOID:0060045, http://en.wikipedia.org/wiki/Munchausen_by_proxy]
synonym: "Munchausen by proxy syndrome" EXACT [GARD:0007117]
synonym: "Munchausen syndrome by proxy" EXACT [GARD:0007117]
xref: DOID:0060045 {source="MONDO:equivalentTo"}
xref: MEDGEN:88372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016735 {source="MONDO:equivalentTo"}
xref: SCTID:95637005 {source="MONDO:equivalentTo"}
xref: UMLS:C0085277 {source="MEDGEN:88372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002103 {source="DOID:0060045"} ! factitious disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7117/munchausen-by-proxy-syndrome" xsd:anyURI {source="GARD:0007117"}

[Term]
id: MONDO:0000598
name: aphasia
def: "A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language." [DOID:0060046, http://en.wikipedia.org/wiki/Aphasia]
xref: DOID:0060046 {source="MONDO:equivalentTo"}
xref: ICD10CM:R47.01 {source="MONDO:equivalentTo"}
xref: MEDGEN:8159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001037 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: UMLS:C0003537 {source="MEDGEN:8159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004750 {source="DOID:0060046"} ! language disorder
relationship: disease_has_feature HP:0002300 {source="MONDO:Wikidata"} ! Mutism
relationship: disease_has_feature MONDO:0002905 {source="MONDO:Wikidata"} ! mutism

[Term]
id: MONDO:0000599
name: writing disorder
def: "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." [DOID:0060047, http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities]
xref: DOID:0060047 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0860614 {source="MEDGEN:1843493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004681 {source="DOID:0060047"} ! learning disability

[Term]
id: MONDO:0000600
name: nosophobia
def: "A specific phobia that involves an irrational fear of contracting a disease." [DOID:0060048, http://en.wikipedia.org/wiki/Nosophobia]
xref: DOID:0060048 {source="MONDO:equivalentTo"}
xref: MEDGEN:637105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0522182 {source="MEDGEN:637105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012000 {source="DOID:0060048", source="EFO:1001903"} ! specific phobia

[Term]
id: MONDO:0000601
name: obsolete autoimmune disorder of urogenital tract
def: "OBSOLETE. A hypersensitivity reaction type II disease that involves the genitourinary system." [MONDO:patterns/location]
comment: Reason: grouping class. Term to consider: none
synonym: "autoimmune disease of genitourinary system" EXACT [MONDO:design_pattern]
synonym: "genitourinary system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "genitourinary system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060049 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5024" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000602
name: autoimmune disorder of blood
def: "A hypersensitivity reaction type II disease that involves the blood." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blood autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "blood hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060050 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="DOID:0060050", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0000178 ! blood

[Term]
id: MONDO:0000603
name: autoimmune disorder of cardiovascular system
def: "A hypersensitivity reaction type II disease that involves the cardiovascular system." [MONDO:patterns/location]
synonym: "cardiovascular system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "cardiovascular system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060051 {source="MONDO:equivalentTo"}
is_a: MONDO:0004995 {source="DOID:0060051", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiovascular disorder
is_a: MONDO:0007179 {source="DOID:0060051", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system

[Term]
id: MONDO:0000604
name: obsolete autonomic peripheral neuropathy
is_obsolete: true
replaced_by: MONDO:0001300

[Term]
id: MONDO:0000605
name: hypersensitivity reaction disease
def: "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." [ISBN-13:978-0-7817-3514-8]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic reaction" BROAD [NCIT:C3114]
synonym: "hypersensitive" EXACT [NCIT:C3114]
synonym: "hypersensitivity" EXACT [NCIT:C3114]
synonym: "hypersensitivity reaction" EXACT [NCIT:C3114]
synonym: "sensitive" BROAD [NCIT:C3114]
synonym: "sensitivity" BROAD [NCIT:C3114]
xref: DOID:0060056 {source="MONDO:equivalentTo"}
xref: EFO:1002003 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:759636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3114 {source="MONDO:equivalentTo"}
xref: SCTID:473010000 {source="MONDO:equivalentTo"}
xref: UMLS:C3532523 {source="MEDGEN:759636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="DOID:0060056", source="EFO:1002003", source="MONDO:Redundant", source="NCIT:C3114"} ! immune system disorder
intersection_of: MONDO:0005046 ! immune system disorder
intersection_of: disease_has_basis_in_disruption_of GO:0002524 ! hypersensitivity

[Term]
id: MONDO:0000606
name: obsolete gluten allergy
def: "OBSOLETE. A allergy involving gluten." [MONDO:patterns/allergy]
synonym: "allergy of gluten" EXACT [MONDO:patterns/allergy]
synonym: "allergy to gluten" EXACT [DOID:0060057]
synonym: "gluten allergic disease" EXACT []
synonym: "gluten allergic reaction" EXACT [DOID:0060057]
xref: DOID:0060057 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000607
name: primary cutaneous T-cell non-Hodgkin lymphoma
def: "A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma." [NCIT:C3467]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CTCL" EXACT ABBREVIATION [NCIT:C3467]
synonym: "cutaneous T cell lymphoma" EXACT [NCIT:C3467]
synonym: "cutaneous T-cell lymphoma" EXACT [DOID:0060061, MONDO:0005209, NCIT:C3467]
synonym: "cutaneous T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3467]
synonym: "cutaneous T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467]
synonym: "PCTCL" EXACT ABBREVIATION [NCIT:C3467]
synonym: "primary cutaneous T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3467]
synonym: "primary cutaneous T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467]
synonym: "skin T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467]
synonym: "T-cell non-Hodgkin's lymphoma of skin" EXACT [NCIT:C3467]
synonym: "T-cell non-Hodgkin's lymphoma of the skin" EXACT [NCIT:C3467]
xref: DOID:0060061 {source="MONDO:equivalentTo"}
xref: EFO:0002913 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9709/3 {source="NCIT:C3467"}
xref: MESH:D016410 {source="MONDO:equivalentTo", source="DOID:0060061"}
xref: NCIT:C3467 {source="MONDO:equivalentTo", source="EFO:0002913"}
xref: SCTID:28054005 {source="EFO:0002913"}
is_a: MONDO:0018898 {source="NCIT:C3467"} ! primary cutaneous lymphoma
relationship: excluded_subClassOf MONDO:0000434 {source="DOID:0060061", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete peripheral T-cell lymphoma

[Term]
id: MONDO:0000608
name: familial juvenile hyperuricemic nephropathy
subset: otar {source="MONDO:OTAR"}
synonym: "familial juvenile gouty nephropathy" EXACT [GARD:0000067]
synonym: "familial juvenile hyperuricemic nephropathy" EXACT [GARD:0000067]
synonym: "familial nephropathy associated with hyperuricemia" EXACT [GARD:0000067]
synonym: "familial nephropathy with gout" EXACT [GARD:0000067]
synonym: "FJHN" EXACT ABBREVIATION [GARD:0006806]
synonym: "gouty nephropathy, familial" RELATED [GARD:0000067]
synonym: "gouty nephropathy, familial juvenile" EXACT [GARD:0006806]
synonym: "juvenile gout" EXACT [GARD:0006806]
synonym: "juvenile gouty nephropathy" EXACT [GARD:0000067]
synonym: "nephropathy, familial, with gout" EXACT [GARD:0006806]
synonym: "tubulointerstitial kidney disease" EXACT [OMIMPS:162000]
xref: DOID:0060062 {source="MONDO:equivalentTo"}
xref: MEDGEN:75651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537696 {source="MONDO:equivalentTo"}
xref: NANDO:2100014 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200139 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:162000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:209886 {source="DOID:0060062"}
xref: Orphanet:217330 {source="DOID:0060062"}
xref: SCTID:46785007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75651"}
is_a: MONDO:0005240 {source="DOID:0060062", source="MESH:C537696"} ! kidney disorder
relationship: disease_has_feature HP:0001997 ! Gout
relationship: disease_has_feature HP:0002149 ! Hyperuricemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:162000"} ! inherited

[Term]
id: MONDO:0000609
name: obsolete sideroblastic anemia with spinocerebellar ataxia
is_obsolete: true
replaced_by: MONDO:0010524

[Term]
id: MONDO:0000610
name: marantic endocarditis
def: "Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia)." [MESH:D059905]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "non-bacterial thrombotic endocarditis" EXACT [DOID:0060068]
synonym: "nonbacterial thrombotic endocarditis" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060068 {source="MONDO:equivalentTo"}
xref: MEDGEN:452215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059905 {source="MONDO:equivalentTo"}
xref: SCTID:57181007 {source="MONDO:equivalentTo"}
xref: UMLS:C0221390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452215"}
is_a: MONDO:0000831 {source="https://orcid.org/0000-0002-6601-2165"} ! thrombotic disease
is_a: MONDO:0001531 ! blood coagulation disease
is_a: MONDO:0005025 {source="DOID:0060068", source="MESH:D059905"} ! endocarditis

[Term]
id: MONDO:0000611
name: pre-malignant neoplasm
def: "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." [DOID:0060071, http://en.wikipedia.org/wiki/Neoplasm]
xref: DOID:0060071 {source="MONDO:equivalentTo"}
xref: MEDGEN:1837212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5817154 {source="MEDGEN:1837212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="DOID:0060071"} ! neoplasm
is_a: MONDO:0021074 {source="https://orcid.org/0000-0002-6601-2165"} ! precancerous condition

[Term]
id: MONDO:0000612
name: lymphatic system cancer
def: "A malignant neoplasm involving the lymphatic part of lymphoid system" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of lymphatic part of lymphoid system" EXACT [MONDO:patterns/cancer]
synonym: "lymphatic part of lymphoid system cancer" EXACT [MONDO:patterns/location]
synonym: "malignant lymphatic part of lymphoid system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lymphatic part of lymphoid system" EXACT [MONDO:patterns/cancer]
xref: DOID:0060073 {source="MONDO:equivalentTo"}
is_a: MONDO:0000621 {source="DOID:0060073", source="MONDO:Entailed", source="MONDO:Redundant"} ! immune system cancer
is_a: MONDO:0005833 {source="DOID:0060073", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0006558 ! lymphatic part of lymphoid system

[Term]
id: MONDO:0000613
name: obsolete estrogen-receptor positive breast cancer
is_obsolete: true
replaced_by: MONDO:0006512

[Term]
id: MONDO:0000614
name: obsolete estrogen-receptor negative breast cancer
is_obsolete: true
replaced_by: MONDO:0006513

[Term]
id: MONDO:0000615
name: progesterone-receptor positive breast cancer
comment: Editor note: check why not in NCIT; note also that triple-positive should be classified here
xref: DOID:0060077 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4733094 {source="MEDGEN:1843473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006116 {source="https://orcid.org/0000-0002-6601-2165"} ! breast carcinoma by gene expression profile
is_a: MONDO:0007254 {source="DOID:0060077"} ! breast cancer
intersection_of: MONDO:0007254 ! breast cancer
intersection_of: disease_has_feature NCIT:C15496 ! Progesterone Receptor Positive

[Term]
id: MONDO:0000616
name: progesterone-receptor negative breast cancer
comment: Editor note: check why not in NCIT; note also that triple-negative should be classified here
xref: DOID:0060078 {source="MONDO:equivalentTo"}
is_a: MONDO:0006116 {source="https://orcid.org/0000-0002-6601-2165"} ! breast carcinoma by gene expression profile
is_a: MONDO:0007254 {source="DOID:0060078"} ! breast cancer
intersection_of: MONDO:0007254 ! breast cancer
intersection_of: disease_has_feature NCIT:C15497 ! Progesterone Receptor Negative

[Term]
id: MONDO:0000617
name: obsolete Her2-receptor positive breast cancer
is_obsolete: true
replaced_by: MONDO:0006244

[Term]
id: MONDO:0000618
name: Her2-receptor negative breast cancer
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060080 {source="MONDO:equivalentTo"}
xref: EFO:0009780 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1684659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168519 {source="MONDO:equivalentTo"}
xref: SCTID:431396003 {source="MONDO:equivalentTo"}
xref: UMLS:C4733095 {source="MEDGEN:1684659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006116 {source="https://orcid.org/0000-0002-6601-2165"} ! breast carcinoma by gene expression profile
is_a: MONDO:0007254 {source="DOID:0060080"} ! breast cancer
intersection_of: MONDO:0007254 ! breast cancer
intersection_of: disease_has_feature NCIT:C68749 ! HER2/Neu Negative

[Term]
id: MONDO:0000619
name: obsolete triple-receptor negative breast cancer
is_obsolete: true
replaced_by: MONDO:0005494

[Term]
id: MONDO:0000620
name: breast benign neoplasm
def: "A non-metastasizing neoplasm arising from the breast parenchyma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "benign breast neoplasm" EXACT [NCIT:C4505]
synonym: "benign breast tumor" EXACT [NCIT:C4505]
synonym: "benign breast tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of breast" EXACT [NCIT:C4505]
synonym: "benign neoplasm of the breast" EXACT [NCIT:C4505]
synonym: "benign tumor of breast" EXACT [NCIT:C4505]
synonym: "benign tumor of the breast" EXACT [NCIT:C4505]
synonym: "benign tumour of breast" EXACT OMO:0003005 []
synonym: "benign tumour of the breast" EXACT OMO:0003005 []
synonym: "breast benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060082 {source="MONDO:equivalentTo"}
xref: ICD9:217 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:91085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4505 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:269485000 {source="MONDO:equivalentTo"}
xref: UMLS:C0346156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91085"}
is_a: MONDO:0000634 {source="DOID:0060082", source="MONDO:Redundant"} ! thoracic benign neoplasm
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C4505"} ! breast neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0000621
name: immune system cancer
def: "A malignant neoplasm involving the immune system" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of immune system" EXACT [MONDO:patterns/cancer]
synonym: "immune system cancer" EXACT [MONDO:patterns/location]
synonym: "malignant immune system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of immune system" EXACT [MONDO:patterns/cancer]
xref: DOID:0060083 {source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:0060083", source="DOID:0060083/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0005046 {source="DOID:0060083", source="MONDO:Entailed", source="MONDO:Redundant"} ! immune system disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002405 ! immune system

[Term]
id: MONDO:0000622
name: obsolete cell type benign neoplasm
is_obsolete: true
replaced_by: MONDO:0005165

[Term]
id: MONDO:0000623
name: obsolete organ system benign neoplasm
is_obsolete: true
replaced_by: MONDO:0005165

[Term]
id: MONDO:0000624
name: benign female reproductive system neoplasm
def: "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor." [NCIT:C4934]
subset: otar {source="MONDO:OTAR"}
synonym: "benign female reproductive system neoplasm" EXACT [NCIT:C4934]
synonym: "benign female reproductive system tumor" EXACT [NCIT:C4934]
synonym: "benign female reproductive system tumour" EXACT OMO:0003005 []
synonym: "benign gynecologic neoplasm" EXACT [NCIT:C4934]
synonym: "benign gynecologic tumor" EXACT [NCIT:C4934]
synonym: "benign gynecologic tumour" EXACT OMO:0003005 []
synonym: "female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060086 {source="MONDO:equivalentTo"}
xref: MEDGEN:152872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4934 {source="MONDO:equivalentTo"}
xref: UMLS:C0744514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152872"}
is_a: MONDO:0000383 {source="DOID:0060086", source="MONDO:Redundant", source="NCIT:C4934"} ! benign reproductive system neoplasm
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4934"} ! female reproductive system neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0003134 ! female reproductive organ

[Term]
id: MONDO:0000625
name: benign male reproductive system neoplasm
def: "A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor." [NCIT:C4777]
subset: otar {source="MONDO:OTAR"}
synonym: "benign Male reproductive system neoplasm" EXACT [NCIT:C4777]
synonym: "benign Male reproductive system tumor" EXACT [NCIT:C4777]
synonym: "benign Male reproductive system tumour" EXACT OMO:0003005 []
synonym: "male reproductive organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060087 {source="MONDO:equivalentTo"}
xref: MEDGEN:181751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4777 {source="MONDO:equivalentTo"}
xref: UMLS:C0947786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181751"}
is_a: MONDO:0000383 {source="DOID:0060087", source="MONDO:Redundant", source="NCIT:C4777"} ! benign reproductive system neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000079 ! male reproductive system

[Term]
id: MONDO:0000626
name: vestibular gland benign neoplasm
def: "A benign neoplasm that involves the vestibular gland." [MONDO:patterns/location]
synonym: "vestibular gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060088 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0011826 ! vestibular gland

[Term]
id: MONDO:0000627
name: benign endocrine neoplasm
def: "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma." [NCIT:C4621]
synonym: "benign endocrine gland neoplasm" EXACT [NCIT:C4621]
synonym: "benign endocrine gland tumor" EXACT [NCIT:C4621]
synonym: "benign endocrine gland tumour" EXACT OMO:0003005 []
synonym: "benign endocrine neoplasm" EXACT [NCIT:C4621]
synonym: "benign endocrine tumor" EXACT [NCIT:C4621]
synonym: "benign endocrine tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of endocrine gland" EXACT [NCIT:C4621]
synonym: "benign neoplasm of the endocrine gland" EXACT [NCIT:C4621]
synonym: "benign tumor of endocrine gland" EXACT [NCIT:C4621]
synonym: "benign tumor of the endocrine gland" EXACT [NCIT:C4621]
synonym: "benign tumour of endocrine gland" EXACT OMO:0003005 []
synonym: "benign tumour of the endocrine gland" EXACT OMO:0003005 []
synonym: "endocrine gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "endocrine organ benign neoplasm" EXACT [DOID:0060089]
xref: DOID:0060089 {source="MONDO:equivalentTo"}
xref: ICD9:227.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:227.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:87577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4621 {source="MONDO:equivalentTo"}
xref: SCTID:92085000 {source="MONDO:equivalentTo"}
xref: UMLS:C0347524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87577"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C4621"} ! endocrine gland neoplasm
is_a: MONDO:0005165 {source="DOID:0060089", source="DOID:0060089/inferred", source="MONDO:Redundant"} ! benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002368 ! endocrine gland

[Term]
id: MONDO:0000628
name: central nervous system organ benign neoplasm
def: "A benign neoplasm that involves the central nervous system." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "central nervous system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060090 {source="MONDO:equivalentTo"}
xref: MEDGEN:488882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0347509 {source="MEDGEN:488882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000648 {source="DOID:0060090", source="MONDO:Redundant"} ! nervous system benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0000629
name: cardiovascular organ benign neoplasm
def: "A benign neoplasm that involves the cardiovascular system." [MONDO:patterns/location]
synonym: "cardiovascular system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060091 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0848083 {source="MEDGEN:1843462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005165 {source="DOID:0060091", source="DOID:0060091/inferred", source="MONDO:Redundant"} ! benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system

[Term]
id: MONDO:0000630
name: immune system organ benign neoplasm
def: "A benign neoplasm that involves the immune organ." [MONDO:patterns/location]
synonym: "immune organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060092 {source="MONDO:equivalentTo"}
is_a: MONDO:0005165 {source="DOID:0060092", source="DOID:0060092/inferred", source="MONDO:Redundant"} ! benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0005057 ! immune organ

[Term]
id: MONDO:0000631
name: bone benign neoplasm
def: "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites." [NCIT:P378]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign bone neoplasm" EXACT [NCIT:C4880]
synonym: "benign bone tumor" EXACT [NCIT:C4880]
synonym: "benign bone tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of bone" EXACT [NCIT:C4880]
synonym: "benign neoplasm of the bone" EXACT [NCIT:C4880]
synonym: "benign osseous neoplasm" EXACT [NCIT:C4880]
synonym: "benign osseous tumor" EXACT [NCIT:C4880]
synonym: "benign osseous tumour" EXACT OMO:0003005 []
synonym: "benign tumor of bone" EXACT [NCIT:C4880]
synonym: "benign tumor of the bone" EXACT [NCIT:C4880]
synonym: "benign tumour of bone" EXACT OMO:0003005 []
synonym: "benign tumour of the bone" EXACT OMO:0003005 []
synonym: "bone tissue benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060094 {source="MONDO:equivalentTo"}
xref: ICD9:213.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:146337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4880 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92027006 {source="MONDO:equivalentTo"}
xref: UMLS:C0684516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146337"}
is_a: MONDO:0000654 {source="DOID:0060094", source="MONDO:Entailed", source="NCIT:C4880"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0005381 {source="DOID:0060094", source="MONDO:Entailed"} ! bone disorder
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0000632
name: uterine benign neoplasm
def: "A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the uterus" EXACT [NCIT:C3609]
synonym: "benign neoplasm of uterus" EXACT [NCIT:C3609]
synonym: "benign tumor of the uterus" EXACT [NCIT:C3609]
synonym: "benign tumor of uterus" EXACT [NCIT:C3609]
synonym: "benign tumour of the uterus" EXACT OMO:0003005 []
synonym: "benign tumour of uterus" EXACT OMO:0003005 []
synonym: "benign uterine neoplasm" EXACT [NCIT:C3609]
synonym: "benign uterine neoplasm NOS" RELATED EXCLUDE [NCIT:C3609]
synonym: "benign uterine neoplasms" EXACT [NCIT:C3609]
synonym: "benign uterine tumor" EXACT [NCIT:C3609]
synonym: "benign uterine tumors" EXACT [NCIT:C3609]
synonym: "benign uterine tumour" EXACT OMO:0003005 []
synonym: "benign uterine tumours" EXACT OMO:0003005 []
synonym: "benign uterus neoplasm" EXACT [NCIT:C3609]
synonym: "benign uterus neoplasms" EXACT [NCIT:C3609]
synonym: "benign uterus tumor" EXACT [NCIT:C3609]
synonym: "benign uterus tumors" EXACT [NCIT:C3609]
synonym: "benign uterus tumour" EXACT OMO:0003005 []
synonym: "benign uterus tumours" EXACT OMO:0003005 []
synonym: "uterine neoplasms, benign" EXACT [NCIT:C3609]
synonym: "uterine tumors, benign" EXACT [NCIT:C3609]
synonym: "Uterous neoplasms, benign" EXACT [NCIT:C3609]
synonym: "Uterous tumors, benign" EXACT [NCIT:C3609]
synonym: "uterus benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060095 {source="MONDO:equivalentTo"}
xref: ICD9:219.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:219.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3609 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92470003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57809"}
is_a: MONDO:0000624 {source="DOID:0060095", source="MONDO:Entailed", source="NCIT:C3609"} ! benign female reproductive system neoplasm
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3609"} ! tumor of uterus
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000995 ! uterus

[Term]
id: MONDO:0000633
name: sensory organ benign neoplasm
def: "A benign neoplasm that involves the sense organ." [MONDO:patterns/location]
synonym: "sense organ benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060096 {source="MONDO:equivalentTo"}
is_a: MONDO:0000648 {source="DOID:0060096", source="MONDO:Entailed", source="MONDO:Redundant"} ! nervous system benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000020 ! sense organ

[Term]
id: MONDO:0000634
name: thoracic benign neoplasm
alt_id: MONDO:0021448
def: "A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma." [NCIT:C4565]
synonym: "benign neoplasm of the thorax" EXACT [NCIT:C4565]
synonym: "benign neoplasm of thorax" EXACT [NCIT:C4565]
synonym: "benign thoracic neoplasm" EXACT [NCIT:C4565]
synonym: "benign thoracic tumor" EXACT [NCIT:C4565]
synonym: "benign thoracic tumour" EXACT OMO:0003005 []
synonym: "benign tumor of the thorax" EXACT [NCIT:C4565]
synonym: "benign tumor of thorax" EXACT [NCIT:C4565]
synonym: "benign tumour of the thorax" EXACT OMO:0003005 []
synonym: "benign tumour of thorax" EXACT OMO:0003005 []
synonym: "thoracic segment of trunk benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060097 {source="MONDO:equivalentTo"}
xref: ICD9:229.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4565 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:255059002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138065"}
is_a: MONDO:0005165 {source="DOID:0060097", source="DOID:0060097/inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C4565"} ! neoplasm of thorax
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000915 ! thoracic segment of trunk

[Term]
id: MONDO:0000635
name: obsolete osteoblastoma
is_obsolete: true
replaced_by: MONDO:0018936

[Term]
id: MONDO:0000636
name: musculoskeletal system benign neoplasm
def: "A benign neoplasm that involves the musculoskeletal system." [MONDO:patterns/location]
synonym: "musculoskeletal system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060099 {source="MONDO:equivalentTo"}
xref: MEDGEN:1709701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5237920 {source="MEDGEN:1709701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="DOID:0060099", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disorder
is_a: MONDO:0005165 {source="DOID:0060099", source="DOID:0060099/inferred", source="MONDO:Redundant"} ! benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system

[Term]
id: MONDO:0000637
name: musculoskeletal system cancer
def: "A malignant neoplasm involving the musculoskeletal system" [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of musculoskeletal system" EXACT [MONDO:patterns/cancer]
synonym: "malignant musculoskeletal system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of musculoskeletal system" EXACT [MONDO:patterns/cancer]
synonym: "musculoskeletal system cancer" EXACT [MONDO:patterns/location]
synonym: "skeletal system cancer" RELATED [DOID:0060100]
xref: DOID:0060100 {source="MONDO:equivalentTo"}
xref: MEDGEN:1714562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0036210 {source="MEDGEN:1714562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="DOID:0060100", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disorder
is_a: MONDO:0004992 {source="DOID:0060100", source="DOID:0060100/inferred", source="MONDO:Redundant"} ! cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system

[Term]
id: MONDO:0000638
name: benign glioma
def: "A form of glioma without malignant characteristics." [MONDO:patterns/benign]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glioma, benign" EXACT [MONDO:patterns/benign]
xref: DOID:0060101 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:1843492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0852481 {source="MEDGEN:1843492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0021042 ! glioma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0000639
name: cartilage cancer
def: "A cancer involving a cartilage tissue." [MONDO:patterns/cancer]
subset: gard_rare {source="GARD:6004", source="MONDO:GARD"}
subset: rare
synonym: "cancer of cartilage tissue" EXACT [MONDO:patterns/cancer]
synonym: "cartilage tissue cancer" EXACT [MONDO:patterns/location]
synonym: "cartilaginous cancer" EXACT [GARD:0006004]
synonym: "malignant cartilage tissue neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cartilage tissue" EXACT [MONDO:patterns/cancer]
xref: DOID:0060102 {source="MONDO:equivalentTo"}
xref: GARD:6004 {source="MONDO:GARD"}
xref: MEDGEN:1843449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4290064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843449"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002418 ! cartilage tissue
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer" xsd:anyURI {source="GARD:0006004"}

[Term]
id: MONDO:0000640
name: central nervous system primitive neuroectodermal neoplasm
def: "A neuroectodermal tumor that involves the central nervous system." [MONDO:patterns/location]
comment: NCIT calls this CNS embryonal tumor, NOS
subset: otar {source="MONDO:OTAR"}
synonym: "central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5398]
synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5398]
synonym: "central nervous system neuroectodermal tumor" EXACT [MONDO:patterns/location]
synonym: "central nervous system neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "central nervous system PNET" EXACT [NCIT:C5398]
synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5398]
synonym: "central nervous system primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C5398]
synonym: "central nervous system primitive neuroectodermal tumor (WHO grade IV)" EXACT [NCIT:C5398]
synonym: "central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "central nervous system primitive neuroectodermal tumour (WHO grade IV)" EXACT OMO:0003005 []
synonym: "central primitive neuroectodermal neoplasm" EXACT [NCIT:C5398]
synonym: "central primitive neuroectodermal tumor" EXACT [NCIT:C5398]
synonym: "central primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "CNS embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5398]
synonym: "CNS embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5398]
synonym: "CNS PNET" EXACT [NCIT:C5398]
synonym: "CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5398]
synonym: "CNS primitive neuroectodermal tumor" EXACT [NCIT:C5398]
synonym: "CNS primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumor of central nervous system" EXACT [MONDO:design_pattern]
synonym: "primitive neuroectodermal tumour of central nervous system" EXACT OMO:0003005 []
xref: DOID:0060103 {source="MONDO:equivalentTo"}
xref: MEDGEN:854517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200099 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200100 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C5398 {source="MONDO:equivalentTo"}
xref: UMLS:C3887678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854517"}
is_a: MONDO:0002714 {source="DOID:0060103", source="MONDO:Entailed", source="NCIT:C5398/inferred"} ! central nervous system cancer
is_a: MONDO:0005462 {source="DOID:0060103", source="MONDO:Entailed", source="MONDO:Redundant"} ! primitive neuroectodermal tumor
intersection_of: MONDO:0005462 ! primitive neuroectodermal tumor
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0000641
name: obsolete cerebellar medulloblastoma
def: "OBSOLETE. A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." [DOID:0060104, http://en.wikipedia.org/wiki/Medulloblastoma]
is_obsolete: true
replaced_by: MONDO:0007959

[Term]
id: MONDO:0000642
name: obsolete brain meningioma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7138" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0850302

[Term]
id: MONDO:0000643
name: vulvar benign neoplasm
def: "A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma." [NCIT:P378]
synonym: "benign neoplasm of the vulva" EXACT [NCIT:C3611]
synonym: "benign neoplasm of vulva" EXACT [NCIT:C3611]
synonym: "benign tumor of the vulva" EXACT [NCIT:C3611]
synonym: "benign tumor of vulva" EXACT [NCIT:C3611]
synonym: "benign tumour of the vulva" EXACT OMO:0003005 []
synonym: "benign tumour of vulva" EXACT OMO:0003005 []
synonym: "benign vulva neoplasm" EXACT [NCIT:C3611]
synonym: "benign vulva tumor" EXACT [NCIT:C3611]
synonym: "benign vulva tumour" EXACT OMO:0003005 []
synonym: "benign vulval neoplasm" EXACT [NCIT:C3611]
synonym: "benign vulvar neoplasm" EXACT [NCIT:C3611]
synonym: "benign vulvar tumor" EXACT [NCIT:C3611]
synonym: "benign vulvar tumour" EXACT OMO:0003005 []
synonym: "mammalian vulva benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "vulva benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060109 {source="MONDO:equivalentTo"}
xref: MEDGEN:102301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3611 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92486005 {source="MONDO:equivalentTo"}
xref: UMLS:C0154003 {source="MONDO:equivalentTo", source="MEDGEN:102301", source="MONDO:MEDGEN"}
is_a: MONDO:0000624 {source="DOID:0060109", source="MONDO:Redundant", source="NCIT:C3611"} ! benign female reproductive system neoplasm
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C3611"} ! vulvar neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0000644
name: cervical benign neoplasm
def: "A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma." [NCIT:P378]
synonym: "benign cervical neoplasm" EXACT [NCIT:C3607]
synonym: "benign cervix uteri neoplasm" EXACT [NCIT:C3607]
synonym: "benign cervix uteri neoplasm NOS" RELATED EXCLUDE [NCIT:C3607]
synonym: "benign cervix uteri tumor" EXACT [NCIT:C3607]
synonym: "benign cervix uteri tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of cervix uteri" EXACT [NCIT:C3607]
synonym: "benign neoplasm of the cervix uteri" EXACT [NCIT:C3607]
synonym: "benign neoplasm of the uterine cervix" EXACT [NCIT:C3607]
synonym: "benign neoplasm of uterine cervix" EXACT [NCIT:C3607]
synonym: "benign tumor of cervix uteri" EXACT [NCIT:C3607]
synonym: "benign tumor of the cervix uteri" EXACT [NCIT:C3607]
synonym: "benign tumor of the uterine cervix" EXACT [NCIT:C3607]
synonym: "benign tumor of uterine cervix" EXACT [NCIT:C3607]
synonym: "benign tumour of cervix uteri" EXACT OMO:0003005 []
synonym: "benign tumour of the cervix uteri" EXACT OMO:0003005 []
synonym: "benign tumour of the uterine cervix" EXACT OMO:0003005 []
synonym: "benign tumour of uterine cervix" EXACT OMO:0003005 []
synonym: "benign uterine cervix neoplasm" EXACT [NCIT:C3607]
synonym: "benign uterine cervix tumor" EXACT [NCIT:C3607]
synonym: "benign uterine cervix tumour" EXACT OMO:0003005 []
synonym: "uterine cervix benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060110 {source="MONDO:equivalentTo"}
xref: MEDGEN:102300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3607 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92056006 {source="MONDO:equivalentTo"}
xref: UMLS:C0153997 {source="MEDGEN:102300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000624 {source="DOID:0060110", source="MONDO:Redundant", source="NCIT:C3607/inferred"} ! benign female reproductive system neoplasm
is_a: MONDO:0000632 {source="MONDO:Redundant", source="NCIT:C3607"} ! uterine benign neoplasm
is_a: MONDO:0021230 {source="MONDO:Redundant", source="NCIT:C3607"} ! uterine cervix neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0000645
name: fallopian tube benign neoplasm
def: "A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma." [NCIT:P378]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180237"}
subset: orphanet_rare {source="Orphanet:180237"}
subset: rare
synonym: "benign fallopian tube neoplasm" EXACT [NCIT:C4517]
synonym: "benign fallopian tube tumor" EXACT [NCIT:C4517]
synonym: "benign fallopian tube tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of fallopian tube" EXACT [NCIT:C4517]
synonym: "benign neoplasm of the fallopian tube" EXACT [NCIT:C4517]
synonym: "benign tumor of fallopian tube" EXACT [NCIT:C4517]
synonym: "benign tumor of fallopian tubes" EXACT [MONDO:0015865]
synonym: "benign tumor of the fallopian tube" EXACT [NCIT:C4517]
synonym: "benign tumour of fallopian tube" EXACT OMO:0003005 []
synonym: "benign tumour of fallopian tubes" EXACT OMO:0003005 []
synonym: "benign tumour of the fallopian tube" EXACT OMO:0003005 []
synonym: "fallopian tube benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "fallopian tube neoplasm, benign" EXACT [NCIT:C4517]
synonym: "fallopian tube tumor, benign" EXACT [NCIT:C4517]
xref: DOID:0060111 {source="MONDO:equivalentTo"}
xref: ICD10CM:D28.2 {source="Orphanet:180237/ntbt", source="Orphanet:180237"}
xref: MedDRA:10053865 {source="Orphanet:180237/e", source="Orphanet:180237"}
xref: MEDGEN:83416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4517 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:180237 {source="MONDO:equivalentTo"}
xref: SCTID:92100009 {source="MONDO:equivalentTo"}
xref: UMLS:C0346190 {source="MEDGEN:83416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000624 {source="DOID:0060111", source="MONDO:Redundant", source="NCIT:C4517"} ! benign female reproductive system neoplasm
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C4517"} ! fallopian tube neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0000646
name: ovarian benign neoplasm
def: "A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of ovary" EXACT [NCIT:C2895]
synonym: "benign neoplasm of the ovary" EXACT [NCIT:C2895]
synonym: "benign ovarian neoplasm" EXACT [NCIT:C2895]
synonym: "benign ovarian tumor" EXACT [NCIT:C2895]
synonym: "benign ovarian tumour" EXACT OMO:0003005 []
synonym: "benign tumor of ovary" EXACT [NCIT:C2895]
synonym: "benign tumor of the ovary" EXACT [NCIT:C2895]
synonym: "benign tumour of ovary" EXACT OMO:0003005 []
synonym: "benign tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovary benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060112 {source="MONDO:equivalentTo"}
xref: EFO:1000116 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:14058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2895 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92260003 {source="MONDO:equivalentTo"}
xref: UMLS:C0004997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14058"}
is_a: MONDO:0000624 {source="DOID:0060112", source="MONDO:Redundant", source="NCIT:C2895"} ! benign female reproductive system neoplasm
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C2895"} ! ovarian neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0000647
name: benign vaginal neoplasm
def: "A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus." [NCIT:C3610]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the vagina" EXACT [NCIT:C3610]
synonym: "benign neoplasm of vagina" EXACT [NCIT:C3610]
synonym: "benign tumor of the vagina" EXACT [NCIT:C3610]
synonym: "benign tumor of vagina" EXACT [NCIT:C3610]
synonym: "benign tumour of the vagina" EXACT OMO:0003005 []
synonym: "benign tumour of vagina" EXACT OMO:0003005 []
synonym: "benign vaginal neoplasm" EXACT [NCIT:C3610]
synonym: "benign vaginal neoplasms" EXACT [NCIT:C3610]
synonym: "benign vaginal tumor" EXACT [NCIT:C3610]
synonym: "benign vaginal tumour" EXACT OMO:0003005 []
synonym: "vagina benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "vagina female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "vaginal benign neoplasm" EXACT [DOID:0060114]
xref: DOID:0060114 {source="MONDO:equivalentTo"}
xref: ICD9:221.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3610 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92473001 {source="MONDO:equivalentTo"}
xref: UMLS:C0154002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57810"}
is_a: MONDO:0000624 {source="DOID:0060114", source="MONDO:Redundant", source="NCIT:C3610"} ! benign female reproductive system neoplasm
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C3610"} ! vaginal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0000648
name: nervous system benign neoplasm
def: "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of nervous system" EXACT [NCIT:C4789]
synonym: "benign neoplasm of the nervous system" EXACT [NCIT:C4789]
synonym: "benign nervous system neoplasm" EXACT [NCIT:C4789]
synonym: "benign nervous system tumor" EXACT [NCIT:C4789]
synonym: "benign nervous system tumour" EXACT OMO:0003005 []
synonym: "benign tumor of nervous system" EXACT [NCIT:C4789]
synonym: "benign tumor of the nervous system" EXACT [NCIT:C4789]
synonym: "benign tumour of nervous system" EXACT OMO:0003005 []
synonym: "benign tumour of the nervous system" EXACT OMO:0003005 []
synonym: "nervous system benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "nervous system neoplasm, benign" EXACT [NCIT:C4789]
xref: DOID:0060115 {source="MONDO:equivalentTo"}
xref: ICD9:225.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:225.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:99232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4789 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92247009 {source="MONDO:equivalentTo"}
xref: UMLS:C0497550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99232"}
is_a: MONDO:0005071 {source="DOID:0060115", source="MONDO:Redundant", source="NCIT:C4789/inferred"} ! nervous system disorder
is_a: MONDO:0005165 {source="DOID:0060115", source="DOID:0060115/inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C4789"} ! nervous system neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0000649
name: sensory system cancer
def: "A malignant neoplasm involving the sensory system" [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of sensory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sensory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant sensory system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "sensory system cancer" EXACT [MONDO:patterns/location]
xref: DOID:0060116 {source="MONDO:equivalentTo"}
is_a: MONDO:0005872 {source="DOID:0060116", source="MONDO:Entailed", source="MONDO:Redundant"} ! nervous system cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001032 ! sensory system

[Term]
id: MONDO:0000650
name: peritoneal benign neoplasm
def: "A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis." [NCIT:C8612]
subset: otar {source="MONDO:OTAR"}
synonym: "benign peritoneal neoplasm" EXACT [NCIT:C8612]
synonym: "peritoneum benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060117 {source="MONDO:equivalentTo"}
xref: MEDGEN:141678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8612 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0496874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141678"}
is_a: MONDO:0005165 {source="DOID:0060117", source="DOID:0060117/inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0006901 {source="MONDO:Redundant", source="NCIT:C8612"} ! peritoneal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0000651
name: obsolete thoracic disorder
def: "OBSOLETE. A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma." [NCIT:C35742]
comment: Reason: grouping class. Term to consider: none
synonym: "disease of thoracic segment of trunk" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of thoracic segment of trunk" EXACT []
synonym: "disorder of thoracic segment of trunk" EXACT [MONDO:patterns/location_top]
synonym: "disorder of thorax" EXACT []
synonym: "thoracic disease" EXACT [NCIT:C35742]
synonym: "thoracic disorder" EXACT [NCIT:C35742]
synonym: "thoracic segment of trunk disease" EXACT [MONDO:patterns/location]
synonym: "thoracic segment of trunk disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0060118 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D013896 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C35742 {source="MONDO:obsoleteEquivalent", source="NCIT:C35742"}
xref: SCTID:118946009 {source="MONDO:obsoleteEquivalent", source="MONDO:preferredExternal"}
xref: SCTID:609622007 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4111" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000652
name: integumentary system benign neoplasm
def: "A benign neoplasm that involves the integumental system." [MONDO:patterns/location]
synonym: "integumental system benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0060121 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="DOID:0060121", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system disorder
is_a: MONDO:0005165 {source="DOID:0060121", source="DOID:0060121/inferred", source="MONDO:Redundant"} ! benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002416 ! integumental system

[Term]
id: MONDO:0000653
name: integumentary system cancer
def: "A malignant neoplasm involving the integumental system" [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of integumental system" EXACT [MONDO:patterns/cancer]
synonym: "integumental system cancer" EXACT [MONDO:patterns/location]
synonym: "malignant integumental system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of integumental system" EXACT [MONDO:patterns/cancer]
xref: DOID:0060122 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="DOID:0060122", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system disorder
is_a: MONDO:0004992 {source="DOID:0060122", source="DOID:0060122/inferred", source="MONDO:Redundant"} ! cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002416 ! integumental system

[Term]
id: MONDO:0000654
name: benign connective and soft tissue neoplasm
def: "A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma." [NCIT:C53684]
subset: otar {source="MONDO:OTAR"}
synonym: "benign connective and soft tissue neoplasm" EXACT [NCIT:C53684]
synonym: "benign connective and soft tissue tumor" EXACT [NCIT:C53684]
synonym: "benign connective and soft tissue tumour" EXACT OMO:0003005 []
synonym: "benign mesenchymal cell neoplasm" EXACT [NCIT:C53684]
synonym: "benign neoplasm of the soft tissue and bone" EXACT [NCIT:C53684]
synonym: "benign tumor of the soft tissue and bone" EXACT [NCIT:C53684]
synonym: "benign tumour of the soft tissue and bone" EXACT OMO:0003005 []
synonym: "connective and soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign, NCIT:C53684]
synonym: "connective tissue benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "neoplasm of soft tissue" RELATED [DOID:0060123]
synonym: "neoplasm of soft tissues" RELATED [DOID:0060123]
synonym: "soft tissue benign neoplasm" RELATED [DOID:0060123]
synonym: "tumor of the soft tissue" RELATED [DOID:0060123, NCIT:C3377]
synonym: "tumour of the soft tissue" RELATED OMO:0003005 []
xref: DOID:0060123 {source="MONDO:equivalentTo"}
xref: MEDGEN:83866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012983 {source="DOID:0060123"}
xref: NCIT:C3377 {source="DOID:0060123", source="MONDO:directSiblingOf"}
xref: NCIT:C53684 {source="MONDO:equivalentTo"}
xref: SCTID:126600002 {source="DOID:0060123"}
xref: SCTID:387837005 {source="DOID:0060123", source="MONDO:directSiblingOf"}
xref: UMLS:C0347481 {source="MONDO:equivalentTo", source="MEDGEN:83866", source="MONDO:MEDGEN"}
is_a: MONDO:0000636 {source="DOID:0060123", source="MONDO:Entailed"} ! musculoskeletal system benign neoplasm
is_a: MONDO:0003900 {source="DOID:0060123", source="MONDO:Redundant"} ! connective tissue disorder
is_a: MONDO:0044334 {source="MONDO:Redundant", source="NCIT:C53684"} ! connective and soft tissue neoplasm
intersection_of: MONDO:0044334 ! connective and soft tissue neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0000655
name: obsolete heavy chain disease
is_obsolete: true
replaced_by: MONDO:0019464

[Term]
id: MONDO:0000656
name: obsolete alpha chain disease
is_obsolete: true
replaced_by: MONDO:0015045

[Term]
id: MONDO:0000657
name: obsolete gamma heavy chain disease
is_obsolete: true
replaced_by: MONDO:0015046

[Term]
id: MONDO:0000658
name: obsolete mu chain disease
is_obsolete: true
replaced_by: MONDO:0015044

[Term]
id: MONDO:0000659
name: delta-heavy chain disease
def: "A heavy chain disease that results from an overproduction of delta antibody (IgD)." [DOID:0060129, http://en.wikipedia.org/wiki/Heavy_chain_disease]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "delta chain disease" EXACT []
synonym: "delta heavy chain disease" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "IgD heavy chain disease" EXACT []
xref: DOID:0060129 {source="MONDO:equivalentTo"}
xref: ICD9:203.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:543921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:20224008 {source="MONDO:equivalentTo"}
xref: UMLS:C0272253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543921"}
is_a: MONDO:0019464 {source="DOID:0060129"} ! heavy chain disease

[Term]
id: MONDO:0000660
name: akinetopsia
def: "An agnosia that is a loss of motion perception." [DOID:0060130, http://en.wikipedia.org/wiki/Agnosia]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060130 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060130", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_basis_in_disruption_of GO:0019232 ! perception of rate of movement

[Term]
id: MONDO:0000661
name: alexithymia
def: "An agnosia that is a deficiency in understanding, processing, or describing emotions." [DOID:0060131, http://en.wikipedia.org/wiki/Agnosia]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060131 {source="MONDO:equivalentTo"}
xref: MEDGEN:194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0002020 {source="MEDGEN:194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005638 {source="DOID:0060131"} ! agnosia

[Term]
id: MONDO:0000662
name: amusia
def: "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals." [DOID:0060132, http://en.wikipedia.org/wiki/Agnosia]
synonym: "receptive amusia" EXACT [DOID:0060132]
xref: DOID:0060132 {source="MONDO:equivalentTo"}
xref: MEDGEN:536039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0234497 {source="MEDGEN:536039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005638 {source="DOID:0060132"} ! agnosia

[Term]
id: MONDO:0000663
name: anosognosia
def: "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments." [DOID:0060133, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060133 {source="MONDO:equivalentTo"}
xref: MEDGEN:536043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0234507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536043"}
is_a: MONDO:0005638 {source="DOID:0060133"} ! agnosia

[Term]
id: MONDO:0000664
name: apperceptive agnosia
def: "An agnosia that is a loss of the ability to distinguish visual shapes." [DOID:0060134, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060134 {source="MONDO:equivalentTo"}
is_a: MONDO:0000685 {source="https://orcid.org/0000-0002-6601-2165"} ! visual agnosia
is_a: MONDO:0005638 {source="DOID:0060134", source="MONDO:Redundant"} ! agnosia
relationship: disease_has_basis_in_disruption_of GO:0007632 ! visual behavior

[Term]
id: MONDO:0000665
name: apraxia
def: "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition." [https://rarediseases.info.nih.gov/diseases/5838/apraxia]
subset: otar {source="MONDO:OTAR"}
synonym: "Apraxias" EXACT [MESH:D001072]
synonym: "dyspraxia" EXACT [GARD:0005838]
xref: DOID:0060135 {source="MONDO:equivalentTo"}
xref: ICD10CM:R48.2 {source="MONDO:equivalentTo"}
xref: MEDGEN:8166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001072 {source="MONDO:equivalentTo"}
xref: NCIT:C180557 {source="MONDO:equivalentTo"}
xref: UMLS:C0003635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8166"}
is_a: MONDO:0024417 {source="https://orcid.org/0000-0002-6601-2165"} ! perceptual disorders
relationship: excluded_subClassOf MONDO:0005638 {source="DOID:0060135", source="https://orcid.org/0000-0001-5208-3432"} ! agnosia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5838/apraxia" xsd:anyURI {source="GARD:0005838"}

[Term]
id: MONDO:0000666
name: associative visual agnosia
def: "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them." [DOID:0060136, http://en.wikipedia.org/wiki/Agnosia]
synonym: "associative agnosia" RELATED [DOID:0060136]
xref: DOID:0060136 {source="MONDO:equivalentTo"}
is_a: MONDO:0000685 {source="https://orcid.org/0000-0002-6601-2165"} ! visual agnosia
is_a: MONDO:0005638 {source="DOID:0060136", source="MONDO:Redundant"} ! agnosia
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_basis_in_disruption_of NBO:0000551 ! visual object recognition

[Term]
id: MONDO:0000667
name: auditory agnosia
def: "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." [DOID:0060137, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060137 {source="MONDO:equivalentTo"}
xref: MEDGEN:68602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0234501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68602"}
is_a: MONDO:0005638 {source="DOID:0060137", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_basis_in_disruption_of GO:0007605 ! sensory perception of sound

[Term]
id: MONDO:0000668
name: autotopagnosia
def: "An agnosia that is a loss of the ability to orient parts of the body." [DOID:0060138, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060138 {source="MONDO:equivalentTo"}
xref: MEDGEN:65883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0234511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65883"}
is_a: MONDO:0005638 {source="DOID:0060138"} ! agnosia

[Term]
id: MONDO:0000669
name: color agnosia
def: "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." [DOID:0060139, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060139 {source="MONDO:equivalentTo"}
is_a: MONDO:0000685 {source="https://orcid.org/0000-0002-6601-2165"} ! visual agnosia
is_a: MONDO:0005638 {source="DOID:0060139", source="MONDO:Redundant"} ! agnosia

[Term]
id: MONDO:0000670
name: cortical deafness
def: "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." [DOID:0060140, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060140 {source="MONDO:equivalentTo"}
xref: MEDGEN:98233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0392704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98233"}
is_a: MONDO:0005638 {source="DOID:0060140"} ! agnosia
relationship: disease_has_basis_in_disruption_of GO:0007605 ! sensory perception of sound

[Term]
id: MONDO:0000671
name: finger agnosia
def: "An agnosia characterized by an inability to distinguish, name, or recognize the fingers" [https://orcid.org/0000-0002-6601-2165, Wikipedia:Finger_agnosia]
comment: It is one of a tetrad of symptoms in Gerstmann syndrome, although it is also possible for finger agnosia to exist on its own without any other disorder: Della Sala, S, and Spinnler, H. Finger Agnosia: fiction or reality? Archives of Neurology 51.5 (1994): 448–50.
synonym: "finger agnosia" EXACT [MONDO:ambiguous]
synonym: "finger agnosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "manual digit agnosia" EXACT [MONDO:patterns/location]
xref: DOID:0060141 {source="MONDO:equivalentTo"}
xref: HP:0010525 {source="MONDO:otherHierarchy"}
xref: MEDGEN:115960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0234509 {source="MEDGEN:115960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005638 {source="DOID:0060141", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_major_feature HP:0010525 ! Finger agnosia
property_value: IAO:0000589 "finger agnosia (disease)" xsd:string

[Term]
id: MONDO:0000672
name: form agnosia
def: "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." [DOID:0060142, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060142 {source="MONDO:equivalentTo"}
xref: MEDGEN:107878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0563621 {source="MONDO:equivalentTo", source="MEDGEN:107878", source="MONDO:MEDGEN"}
is_a: MONDO:0000685 {source="https://orcid.org/0000-0002-6601-2165"} ! visual agnosia
is_a: MONDO:0005638 {source="DOID:0060142", source="MONDO:Redundant"} ! agnosia

[Term]
id: MONDO:0000673
name: integrative agnosia
def: "Agnosia characterized by the inability to integrate perceptual wholes within knowledge." [Wikipedia:Integrative_agnosia]
xref: DOID:0060143 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060143"} ! agnosia

[Term]
id: MONDO:0000674
name: mirror agnosia
def: "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field." [DOID:0060144, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060144 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060144"} ! agnosia

[Term]
id: MONDO:0000675
name: pain agnosia
def: "Loss of the ability to perceive and process pain." [NCIT:C125664]
subset: otar {source="MONDO:OTAR"}
synonym: "analgesia" RELATED [DOID:0060145]
xref: DOID:0060145 {source="MONDO:equivalentTo"}
xref: EFO:1001484 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:154351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125664 {source="MONDO:equivalentTo"}
xref: UMLS:C0563625 {source="MEDGEN:154351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005638 {source="DOID:0060145", source="EFO:1001484", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_basis_in_disruption_of GO:0019233 ! sensory perception of pain

[Term]
id: MONDO:0000676
name: phonagnosia
def: "An agnosia that is a loss of the ability to recognize familiar voices." [DOID:0060146, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060146 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060146"} ! agnosia

[Term]
id: MONDO:0000677
name: semantic agnosia
def: "An agnosia that is a loss of the ability to visually recognize an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognize the object." [DOID:0060147, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060147 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060147"} ! agnosia

[Term]
id: MONDO:0000678
name: simultanagnosia
def: "An agnosia that is a loss of the ability to recognize a whole image or scene while retaining the ability to recognize objects or details in their visual field one at a time." [DOID:0060148, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060148 {source="MONDO:equivalentTo"}
xref: MEDGEN:415993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2827429 {source="MEDGEN:415993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005638 {source="DOID:0060148"} ! agnosia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia" xsd:anyURI {source="GARD:0011943"}

[Term]
id: MONDO:0000679
name: social emotional agnosia
def: "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction." [DOID:0060149, http://en.wikipedia.org/wiki/Agnosia]
synonym: "expressive agnosia" EXACT [DOID:0060149]
xref: DOID:0060149 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060149"} ! agnosia

[Term]
id: MONDO:0000680
name: astereognosia
def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." [DOID:0060150, http://en.wikipedia.org/wiki/Agnosia]
synonym: "astereognosia" EXACT [MONDO:ambiguous]
synonym: "astereognosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "somatosensory agnosia" EXACT [DOID:0060150]
xref: DOID:0060150 {source="MONDO:equivalentTo"}
xref: HP:0010527 {source="MONDO:otherHierarchy"}
xref: MEDGEN:65881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0234505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65881"}
is_a: MONDO:0005638 {source="DOID:0060150", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_major_feature HP:0010527 ! Astereognosis
property_value: IAO:0000589 "astereognosia (disease)" xsd:string

[Term]
id: MONDO:0000681
name: tactile agnosia
def: "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." [DOID:0060151, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060151 {source="MONDO:equivalentTo"}
is_a: MONDO:0005638 {source="DOID:0060151", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_basis_in_disruption_of GO:0050975 ! sensory perception of touch

[Term]
id: MONDO:0000682
name: time agnosia
def: "An agnosia that is a loss of the ability to comprehend the succession and duration of events." [DOID:0060152, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060152 {source="MONDO:equivalentTo"}
xref: MEDGEN:65882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0234506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65882"}
is_a: MONDO:0005638 {source="DOID:0060152"} ! agnosia

[Term]
id: MONDO:0000683
name: topographical agnosia
def: "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects." [DOID:0060153, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060153 {source="MONDO:equivalentTo"}
xref: MEDGEN:78761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:83824009 {source="MONDO:equivalentTo"}
xref: UMLS:C0271189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78761"}
is_a: MONDO:0000685 {source="DOID:0060153"} ! visual agnosia

[Term]
id: MONDO:0000684
name: verbal auditory agnosia
def: "An agnosia that is a loss of the ability to recognizing spoken words as semantically meaningful." [DOID:0060154, http://en.wikipedia.org/wiki/Agnosia]
xref: DOID:0060154 {source="MONDO:equivalentTo"}
is_a: MONDO:0000667 {source="https://orcid.org/0000-0001-5208-3432"} ! auditory agnosia
is_a: MONDO:0005638 {source="DOID:0060154", source="MONDO:Redundant"} ! agnosia

[Term]
id: MONDO:0000685
name: visual agnosia
def: "An inability to recognize or interpret objects by sight." [NCIT:C35276]
synonym: "visual agnosia" EXACT [MONDO:ambiguous]
synonym: "visual agnosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "visuoperceptual agnosia" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060155 {source="MONDO:equivalentTo"}
xref: HP:0030222 {source="MONDO:otherHierarchy"}
xref: MEDGEN:115959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531604 {source="DOID:0060155"}
xref: NCIT:C35276 {source="MONDO:equivalentTo"}
xref: SCTID:25762009 {source="MONDO:equivalentTo"}
xref: UMLS:C0234502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:115959"}
is_a: MONDO:0005638 {source="DOID:0060155", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
is_a: MONDO:0021084 {source="MONDO:Redundant", source="NCIT:C35276/inferred", source="NCIT:C53534"} ! vision disorder
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_basis_in_disruption_of GO:0007601 ! visual perception
relationship: disease_has_major_feature HP:0030222 ! Visual agnosia
property_value: IAO:0000589 "visual agnosia (disease)" xsd:string

[Term]
id: MONDO:0000686
name: alexia without agraphia
def: "Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)" [MESH:D020237]
synonym: "agnosia, visual verbal" EXACT [MESH:D020237]
synonym: "Agnosias, visual verbal" EXACT [MESH:D020237]
synonym: "agraphia, alexia without" RELATED [MESH:D020237]
synonym: "Agraphias, alexia without" RELATED [MESH:D020237]
synonym: "alexia syndrome without agraphia" RELATED [MESH:D020237]
synonym: "alexia without agraphia" EXACT [MESH:D020237]
synonym: "alexia without Agraphias" RELATED [MESH:D020237]
synonym: "alexias, Pure" RELATED [MESH:D020237]
synonym: "blindness, Pure Word" RELATED [MESH:D020237]
synonym: "Blindnesses, Pure Word" RELATED [MESH:D020237]
synonym: "Pure alexia" RELATED [MESH:D020237]
synonym: "Pure alexia without agraphia" RELATED [MESH:D020237]
synonym: "Pure alexias" RELATED [MESH:D020237]
synonym: "Pure Word blindness" RELATED [MESH:D020237]
synonym: "Pure Word Blindnesses" RELATED [MESH:D020237]
synonym: "verbal agnosia, visual" RELATED [MESH:D020237]
synonym: "verbal Agnosias, visual" RELATED [MESH:D020237]
synonym: "visual verbal agnosia" RELATED [MESH:D020237]
synonym: "visual verbal Agnosias" RELATED [MESH:D020237]
synonym: "without agraphia, alexia" RELATED [MESH:D020237]
synonym: "without Agraphias, alexia" RELATED [MESH:D020237]
synonym: "Word blindness, Pure" RELATED [MESH:D020237]
synonym: "Word Blindnesses, Pure" RELATED [MESH:D020237]
xref: DOID:0060156 {source="MONDO:equivalentTo"}
xref: MEDGEN:155643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020237 {source="MONDO:equivalentTo"}
xref: UMLS:C0751840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155643"}
is_a: MONDO:0000685 {source="DOID:0060156"} ! visual agnosia
relationship: disease_has_feature HP:0010522 ! Dyslexia

[Term]
id: MONDO:0000687
name: diffuse alopecia areata
def: "An alopecia areata that involves diffuse loss of hair over the whole scalp." [DOID:0060157, http://en.wikipedia.org/wiki/Alopecia_areata]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alopecia celsi" RELATED [MESH:C531609]
synonym: "Cazenave's vitiligo" RELATED [MESH:C531609]
synonym: "Celsus' vitiligo" RELATED [MESH:C531609]
synonym: "Jonston's alopecia" RELATED [MESH:C531609]
synonym: "marginal alopecia" RELATED [MESH:C531609]
synonym: "patchy alopecia" RELATED [MESH:C531609]
xref: DOID:0060157 {source="MONDO:equivalentTo"}
xref: MEDGEN:537915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531609 {source="DOID:0060157", source="MONDO:equivalentTo"}
xref: SCTID:201138007 {source="DOID:0060157"}
xref: SCTID:403331000 {source="DOID:0060157"}
xref: SCTID:46586006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:537915"}
is_a: MONDO:0005340 {source="DOID:0060157", source="MESH:C531609"} ! alopecia areata

[Term]
id: MONDO:0000688
name: inborn organic aciduria
def: "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage." [NCIT:C101334]
subset: disease_grouping
subset: gard_rare {source="GARD:9433", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289899"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of organic acid metabolism" BROAD [NCIT:C101334]
synonym: "inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn organic acid metabolic process disorder" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inherited organic acidemia" RELATED [MONDO:patterns/inborn_metabolic]
synonym: "organic acid metabolism disorder" BROAD [DOID:0060159]
synonym: "organic acidemia" EXACT [DOID:0060159, GARD:0009433]
synonym: "organic aciduria" EXACT [DOID:0060159, MONDO:0017358]
synonym: "rare inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0060159 {source="MONDO:equivalentTo"}
xref: GARD:9433 {source="MONDO:GARD"}
xref: icd11.foundation:1921636230 {source="MONDO:equivalentTo", source="Orphanet:289899", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C101334 {source="MONDO:equivalentTo"}
xref: Orphanet:289899 {source="MONDO:equivalentTo"}
xref: UMLS:C0241775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66037"}
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
relationship: excluded_subClassOf MONDO:0019052 {source="DOID:0060159/inferred", source="MONDO:Redundant", source="NCIT:C101334", source="Orphanet:289899/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia" xsd:anyURI {source="GARD:0009433"}

[Term]
id: MONDO:0000689
name: obsolete survival motor neuron spinal muscular atrophy
is_obsolete: true
replaced_by: MONDO:0009669

[Term]
id: MONDO:0000690
name: body dysmorphic disorder
def: "Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning." [MESH:D057215]
synonym: "body dysmorphia" EXACT [DOID:0060163]
synonym: "dysmorphic syndrome" EXACT [DOID:0060163]
synonym: "dysmorphophobia" EXACT [DOID:0060163]
xref: DOID:0060163 {source="MONDO:equivalentTo"}
xref: ICD10CM:F45.22 {source="MONDO:equivalentTo"}
xref: MEDGEN:2302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057215 {source="MONDO:equivalentTo"}
xref: SCTID:83482000 {source="MONDO:equivalentTo"}
xref: UMLS:C0005887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2302"}
is_a: MONDO:0003117 {source="DOID:0060163", source="MESH:D057215"} ! somatoform disorder

[Term]
id: MONDO:0000691
name: obsolete pain disorder
is_obsolete: true
replaced_by: MONDO:0021668

[Term]
id: MONDO:0000692
name: obsolete Kleine-Levin syndrome
is_obsolete: true
replaced_by: MONDO:0007863

[Term]
id: MONDO:0000693
name: bipolar II disorder
def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." [DOID:0060166, http://en.wikipedia.org/wiki/Bipolar_II]
synonym: "bipolar 2 disorder" RELATED []
synonym: "bipolar II disorder" EXACT []
synonym: "bipolar ll disorder" RELATED [DOID:0060166]
xref: DOID:0060166 {source="MONDO:equivalentTo"}
xref: ICD9:296.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:536634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:83225003 {source="MONDO:equivalentTo"}
xref: UMLS:C0236788 {source="MEDGEN:536634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004985 {source="DOID:0060166"} ! bipolar disorder

[Term]
id: MONDO:0000694
name: seasonal affective disorder
def: "A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence." [MESH:D016574]
synonym: "sad" BROAD [https://orcid.org/0000-0002-6601-2165]
synonym: "SADS" BROAD ABBREVIATION [GARD:0009434]
synonym: "seasonal affective disorder" EXACT []
synonym: "winter depression" EXACT [DOID:0060167]
xref: DOID:0060167 {source="MONDO:equivalentTo"}
xref: ICD9:296.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:38984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016574 {source="MONDO:equivalentTo"}
xref: SCTID:247803002 {source="MONDO:equivalentTo"}
xref: UMLS:C0085159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38984"}
is_a: MONDO:0002050 {source="DOID:0060167", source="MESH:D016574"} ! depressive disorder

[Term]
id: MONDO:0000695
name: obsolete histidinemia
is_obsolete: true
replaced_by: MONDO:0009345

[Term]
id: MONDO:0000696
name: obsolete juvenile absence epilepsy
is_obsolete: true
replaced_by: MONDO:0011876

[Term]
id: MONDO:0000697
name: obsolete succinic semialdehyde dehydrogenase deficiency
is_obsolete: true
replaced_by: MONDO:0010083

[Term]
id: MONDO:0000698
name: gamma-amino butyric acid metabolism disorder
def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway." [DOID:0060176, PMID:12891648]
subset: gard_rare {source="GARD:18955", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79175"}
subset: rare
xref: DOID:0060176 {source="MONDO:equivalentTo"}
xref: GARD:18955 {source="MONDO:GARD"}
xref: icd11.foundation:1811657969 {source="MONDO:equivalentTo", source="Orphanet:79175", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79175 {source="MONDO:equivalentTo"}
xref: UMLS:C4702813 {source="MEDGEN:1842586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004736 {source="DOID:0060176", source="MONDO:Entailed"} ! inborn disorder of amino acid metabolism
intersection_of: MONDO:0004736 ! inborn disorder of amino acid metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0009450 ! gamma-aminobutyric acid catabolic process

[Term]
id: MONDO:0000699
name: obsolete homocarnosinosis
is_obsolete: true
replaced_by: MONDO:0009351

[Term]
id: MONDO:0000700
name: familial hemiplegic migraine
def: "A migraine disorder characterized by individual and family history of aura that includes motor weakness." [NCIT:C117009]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hemiplegic migraine" EXACT CLINGEN_LABEL []
synonym: "FHM" EXACT ABBREVIATION [OMIM:141500]
synonym: "hemiplegic migraine, familial" RELATED [GARD:0010975]
synonym: "hemiplegic-ophthalmoplegic migraine" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "hereditary hemiplegic migraine" EXACT [MONDO:patterns/hereditary]
xref: DOID:0060178 {source="MONDO:equivalentTo"}
xref: GARD:10975 {source="MONDO:GARD"}
xref: ICD10CM:G43.8 {source="DOID:0060178"}
xref: ICD9:346.8 {source="DOID:0060178"}
xref: MEDGEN:87374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117009 {source="MONDO:equivalentTo"}
xref: OMIMPS:141500 {source="MONDO:equivalentTo"}
xref: Orphanet:569 {source="DOID:0060178", source="MONDO:relatedTo"}
xref: SCTID:193037008 {source="DOID:0060178"}
xref: SCTID:193040008 {source="DOID:0060178"}
xref: SCTID:194493009 {source="DOID:0060178"}
xref: SCTID:95656000 {source="MONDO:equivalentTo"}
xref: UMLS:C0338484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87374"}
is_a: MONDO:0005277 {source="DOID:0060178/inferred", source="NCIT:C117009"} ! migraine disorder
is_a: MONDO:0005475 {source="DOID:0060178", source="MONDO:Redundant"} ! migraine with aura
is_a: MONDO:0018925 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! familial or sporadic hemiplegic migraine
intersection_of: MONDO:0018925 ! familial or sporadic hemiplegic migraine
intersection_of: has_characteristic MONDO:0021152 ! inherited
disjoint_from: MONDO:0020757 ! sporadic hemiplegic migraine
relationship: disease_has_feature HP:0001269 ! Hemiparesis
relationship: disease_has_feature HP:0001289 ! Confusion
relationship: disease_has_feature HP:0001324 ! Muscle weakness
relationship: disease_has_feature HP:0002329 ! Drowsiness
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:141500"} ! inherited

[Term]
id: MONDO:0000701
name: ischemic colitis
def: "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature." [MESH:D017091]
subset: otar {source="MONDO:OTAR"}
synonym: "colonic ischemia" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060181 {source="MONDO:equivalentTo"}
xref: ICD10CM:K55.9 {source="DOID:0060181"}
xref: MEDGEN:57930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017091 {source="MONDO:equivalentTo", source="DOID:0060181"}
xref: SCTID:30588004 {source="MONDO:equivalentTo", source="DOID:0060181"}
xref: UMLS:C0162529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57930"}
is_a: MONDO:0005292 {source="DOID:0060181", source="MESH:D017091", source="MONDO:Redundant"} ! colitis
is_a: MONDO:0005385 {source="MESH:D017091"} ! vascular disorder
intersection_of: MONDO:0005292 ! colitis
intersection_of: disease_arises_from_feature MONDO:0005053 ! ischemic disease

[Term]
id: MONDO:0000702
name: microscopic colitis
def: "Inflammation of the colon that is only apparent by microscopic examination." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060182 {source="MONDO:equivalentTo"}
xref: EFO:1001295 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046728 {source="MONDO:equivalentTo", source="DOID:0060182"}
xref: NCIT:C38504 {source="MONDO:equivalentTo", source="DOID:0060182"}
xref: Orphanet:58220 {source="MONDO:equivalentObsolete", source="DOID:0060182"}
xref: SCTID:235753003 {source="MONDO:equivalentTo", source="DOID:0060182"}
xref: UMLS:C0400821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98005"}
is_a: MONDO:0005292 {source="DOID:0060182", source="EFO:1001295", source="MESH:D046728", source="NCIT:C38504"} ! colitis

[Term]
id: MONDO:0000703
name: collagenous colitis
def: "A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060183 {source="MONDO:equivalentTo"}
xref: EFO:1001293 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K52.831 {source="MONDO:equivalentTo"}
xref: ICD10CM:K52.89 {source="DOID:0060183"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048928 {source="DOID:0060183"}
xref: MEDGEN:65945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046729 {source="MONDO:equivalentTo", source="DOID:0060183"}
xref: NCIT:C27021 {source="MONDO:equivalentTo", source="DOID:0060183"}
xref: Orphanet:36205 {source="MONDO:equivalentObsolete"}
xref: SCTID:19311003 {source="MONDO:equivalentTo", source="DOID:0060183"}
xref: UMLS:C0238067 {source="MEDGEN:65945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000702 {source="DOID:0060183", source="EFO:1001293", source="MESH:D046729", source="NCIT:C27021"} ! microscopic colitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6135/collagenous-colitis" xsd:anyURI

[Term]
id: MONDO:0000704
name: lymphocytic colitis
def: "Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060184 {source="MONDO:equivalentTo"}
xref: EFO:1001294 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K52.832 {source="MONDO:equivalentTo"}
xref: ICD10CM:K52.89 {source="DOID:0060184"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10025268 {source="DOID:0060184"}
xref: MEDGEN:98006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046730 {source="MONDO:equivalentTo", source="DOID:0060184"}
xref: NCIT:C27147 {source="MONDO:equivalentTo", source="DOID:0060184"}
xref: Orphanet:65279 {source="MONDO:equivalentObsolete", source="DOID:0060184"}
xref: SCTID:31437008 {source="MONDO:equivalentTo", source="DOID:0060184"}
xref: UMLS:C0400822 {source="MEDGEN:98006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000702 {source="DOID:0060184", source="EFO:1001294", source="MESH:D046730", source="NCIT:C27147"} ! microscopic colitis

[Term]
id: MONDO:0000705
name: Clostridium difficile colitis
def: "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated." [NCIT:C35286]
synonym: "C. diff colitis" EXACT [NCIT:C35286]
synonym: "C. diff infection" EXACT [NCIT:C35286]
synonym: "Clostridioides difficile caused colitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Clostridioides difficile colitis (disease)" EXACT []
synonym: "Clostridium difficile infection" EXACT [NCIT:C35286]
synonym: "pseudomembranous colitis" EXACT [DOID:0060185, MESH:D004761]
xref: DOID:0060185 {source="MONDO:equivalentTo"}
xref: ICD10CM:A04.7 {source="DOID:0060185"}
xref: MedDRA:10009657 {source="DOID:0060185"}
xref: MEDGEN:65946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004761 {source="MONDO:equivalentTo", source="DOID:0060185"}
xref: NCIT:C35286 {source="MONDO:equivalentTo"}
xref: SCTID:155783000 {source="DOID:0060185"}
xref: SCTID:197019008 {source="DOID:0060185"}
xref: SCTID:197033008 {source="DOID:0060185"}
xref: SCTID:197124009 {source="DOID:0060185"}
xref: SCTID:235752008 {source="DOID:0060185"}
xref: SCTID:266525002 {source="DOID:0060185"}
xref: SCTID:397683000 {source="DOID:0060185"}
xref: SCTID:397696004 {source="DOID:0060185"}
xref: SCTID:423590009 {source="MONDO:equivalentTo", source="DOID:0060185"}
xref: SCTID:51180003 {source="DOID:0060185"}
xref: UMLS:C0238106 {source="MEDGEN:65946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:0009130", source="MESH:D004761/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0005292 {source="DOID:0060185", source="MONDO:Entailed", source="NCIT:C35286/inferred"} ! colitis
intersection_of: MONDO:0005292 ! colitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1496 ! Clostridioides difficile
relationship: disease_has_infectious_agent NCBITaxon:1496 {source="MONDO:Wikidata"} ! Clostridioides difficile

[Term]
id: MONDO:0000706
name: chemical colitis
def: "A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically." [http://en.wikipedia.org/wiki/Chemical_colitis]
xref: DOID:0060186 {source="MONDO:equivalentTo"}
xref: ICD10CM:K52 {source="DOID:0060186"}
xref: ICD9:558 {source="DOID:0060186"}
xref: ICD9:558.9 {source="DOID:0060186", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: SCTID:72965009 {source="DOID:0060186", source="MONDO:equivalentTo"}
is_a: MONDO:0005292 {source="DOID:0060186", source="MONDO:Redundant"} ! colitis
intersection_of: MONDO:0005292 ! colitis
intersection_of: realized_in_response_to ECTO:0000231 ! exposure to chemical

[Term]
id: MONDO:0000707
name: diversion colitis
def: "A colitis which can occur as a complication of ileostomy or colostomy." [http://en.wikipedia.org/wiki/Diversion_colitis]
xref: DOID:0060187 {source="MONDO:equivalentTo"}
xref: ICD10CM:K52 {source="DOID:0060187"}
xref: ICD9:558 {source="DOID:0060187"}
xref: ICD9:558.9 {source="DOID:0060187", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:540758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:51290000 {source="DOID:0060187", source="MONDO:equivalentTo"}
xref: UMLS:C0267532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540758"}
is_a: MONDO:0005292 {source="DOID:0060187"} ! colitis
relationship: realized_in_response_to NCIT:C52005 ! Enterostomy

[Term]
id: MONDO:0000708
name: Crohn jejunoileitis
synonym: "jejunoileitis" RELATED [DOID:0060188]
xref: DOID:0060188 {source="MONDO:equivalentTo"}
xref: ICD10CM:K50.0 {source="DOID:0060188"}
xref: MEDGEN:1807919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5686428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807919"}
is_a: MONDO:0005011 {source="DOID:0060188", source="MONDO:Redundant"} ! Crohn disease
intersection_of: MONDO:0005011 ! Crohn disease
intersection_of: disease_has_inflammation_site UBERON:0002115 ! jejunum
intersection_of: disease_has_inflammation_site UBERON:0002116 ! ileum

[Term]
id: MONDO:0000709
name: Crohn ileitis
def: "An Crohn disease involving a pathogenic inflammatory response in the ileum." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
synonym: "Crohn's ileitis" EXACT [DOID:0060189]
synonym: "ileitis" RELATED [DOID:0060189]
xref: CSP:1248-5305 {source="DOID:0060189"}
xref: DOID:0060189 {source="MONDO:equivalentTo"}
xref: ICD10CM:K52.9 {source="DOID:0060189"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10021312 {source="DOID:0060189"}
xref: MEDGEN:82754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007079 {source="DOID:0060189", source="MONDO:equivalentTo"}
xref: NCIT:C35329 {source="MONDO:equivalentTo"}
xref: NCIT:C84782 {source="DOID:0060189"}
xref: NDFRT:N0000001662 {source="DOID:0060189"}
xref: SCTID:52457000 {source="DOID:0060189", source="MONDO:equivalentTo"}
xref: UMLS:C0267380 {source="MEDGEN:82754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005011 {source="DOID:0060189", source="MONDO:Redundant", source="NCIT:C35329/inferred"} ! Crohn disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C35329/inferred"} ! inflammatory disease
intersection_of: MONDO:0005011 ! Crohn disease
intersection_of: disease_has_inflammation_site UBERON:0002116 ! ileum

[Term]
id: MONDO:0000710
name: gastroduodenal Crohn disease
def: "An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite." [DOID:0060191, http://en.wikipedia.org/wiki/Crohn%27s_disease, http://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx, http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, PMID:12769447]
synonym: "gastroduodenal Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "upper GI Crohn's disease" EXACT [DOID:0060191]
xref: DOID:0060191 {source="MONDO:equivalentTo"}
xref: ICD10CM:K50.0 {source="DOID:0060191"}
xref: MEDGEN:1613956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4544979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613956"}
is_a: MONDO:0005011 {source="DOID:0060191", source="MONDO:Redundant"} ! Crohn disease
intersection_of: MONDO:0005011 ! Crohn disease
intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach
intersection_of: disease_has_inflammation_site UBERON:0002114 ! duodenum

[Term]
id: MONDO:0000711
name: obsolete amyotrophic lateral sclerosis type 13
is_obsolete: true
replaced_by: MONDO:0008458

[Term]
id: MONDO:0000712
name: obsolete FTDALS
comment: duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1902" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017161

[Term]
id: MONDO:0000713
name: obsolete Balo concentric sclerosis
is_obsolete: true
replaced_by: MONDO:0016430

[Term]
id: MONDO:0000714
name: obsolete crest syndrome
is_obsolete: true
replaced_by: MONDO:0019563

[Term]
id: MONDO:0000715
name: lymph node adenoid cystic carcinoma
def: "A adenoid cystic carcinoma that involves the lymph node." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymph node adenoid cystic cancer" RELATED [DOID:0060219]
synonym: "lymph node adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0060219 {source="MONDO:equivalentTo"}
is_a: MONDO:0001082 {source="DOID:0060219", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymph node cancer
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0000029 ! lymph node

[Term]
id: MONDO:0000716
name: agraphia
def: "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." [DOID:0060223, http://en.wikipedia.org/wiki/Agraphia, PMID:21507544]
xref: DOID:0060223 {source="MONDO:equivalentTo"}
xref: ICD10CM:R48.8 {source="DOID:0060223"}
xref: MEDGEN:1790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000381 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: UMLS:C0001825 {source="MEDGEN:1790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000599 {source="DOID:0060223"} ! writing disorder

[Term]
id: MONDO:0000717
name: obsolete acrofrontofacionasal dysostosis
is_obsolete: true
replaced_by: MONDO:0008715

[Term]
id: MONDO:0000718
name: obsolete Adams-Oliver syndrome
is_obsolete: true
replaced_by: MONDO:0007034

[Term]
id: MONDO:0000719
name: obsolete Baraitser-winter syndrome
is_obsolete: true
replaced_by: MONDO:0017579

[Term]
id: MONDO:0000720
name: obsolete basal ganglia calcification
is_obsolete: true
replaced_by: MONDO:0008947

[Term]
id: MONDO:0000721
name: xanthinuria
def: "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine." [https://www.sciencedirect.com/topics/medicine-and-dentistry/xanthinuria]
subset: otar {source="MONDO:OTAR"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:450997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200588 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:190919008 {source="MONDO:equivalentTo"}
xref: UMLS:C0220988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450997"}
is_a: MONDO:0005066 {source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_disrupts GO:0046110 ! xanthine metabolic process

[Term]
id: MONDO:0000722
name: non-syndromic synpolydactyly
def: "A synpolydactyly that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "isolated synpolydactyly" EXACT []
synonym: "nonsyndromic synpolydactyly" EXACT [MONDO:patterns/isolated]
synonym: "syndactyly type 2" RELATED EXCLUDE [DOID:0060242]
synonym: "synpolydactyly" RELATED [DOID:0060242]
xref: DOID:0060242 {source="MONDO:equivalentTo"}
xref: MESH:C538153 {source="DOID:0060242", source="MONDO:relatedTo"}
xref: NCIT:C75003 {source="DOID:0060242", source="MONDO:relatedTo"}
xref: Orphanet:295195 {source="DOID:0060242"}
is_a: MONDO:0019530 {source="DOID:0060242"} ! non-syndromic syndactyly
intersection_of: MONDO:0021651 ! synpolydactyly
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0000723
name: stutter disorder
def: "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." [NCIT:C35043]
comment: Editor note: check this; consider subclass for familial
synonym: "familial persistent stuttering" NARROW [DOID:0060243]
synonym: "stammering" EXACT [DOID:0060243]
synonym: "stutter" EXACT [NCIT:C35043]
synonym: "stuttering" EXACT [DOID:0060243]
synonym: "stuttering, familial persistent" NARROW [OMIMPS:184450]
xref: DOID:0060243 {source="MONDO:equivalentTo"}
xref: ICD10CM:F80.81 {source="DOID:0060243"}
xref: MEDGEN:20932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013342 {source="DOID:0060243"}
xref: NCIT:C35043 {source="DOID:0060243", source="MONDO:equivalentTo"}
xref: OMIMPS:184450 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:154935003 {source="DOID:0060243"}
xref: SCTID:191987007 {source="DOID:0060243"}
xref: SCTID:192632007 {source="DOID:0060243"}
xref: SCTID:229631007 {source="DOID:0060243"}
xref: SCTID:231512003 {source="DOID:0060243"}
xref: SCTID:231513008 {source="DOID:0060243"}
xref: SCTID:29916003 {source="DOID:0060243"}
xref: SCTID:39423001 {source="DOID:0060243"}
xref: SCTID:416163003 {source="DOID:0060243"}
xref: UMLS:C0038131 {source="MEDGEN:20932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004730 {source="DOID:0060243/inferred"} ! speech disorder
is_a: MONDO:0004750 {source="MONDO:Redundant", source="NCIT:C35043"} ! language disorder
relationship: excluded_subClassOf MONDO:0002903 {source="DOID:0060243", source="https://orcid.org/0000-0001-5208-3432"} ! articulation disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:184450"} ! inherited

[Term]
id: MONDO:0000724
name: specific language impairment
def: "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." [DOID:0060244, http://en.wikipedia.org/wiki/Specific_language_impairment, PMID:19646677]
subset: otar {source="MONDO:OTAR"}
synonym: "language impairment (disease)" EXACT []
xref: DOID:0060244 {source="MONDO:equivalentTo"}
xref: EFO:1001510 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:627772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:606711 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:458713 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0454651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:627772"}
is_a: MONDO:0004750 {source="DOID:0060244"} ! language disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:606711"} ! inherited

[Term]
id: MONDO:0000725
name: obsolete Simpson-Golabi-Behmel syndrome
is_obsolete: true
replaced_by: MONDO:0010731

[Term]
id: MONDO:0000726
name: idiopathic scoliosis
def: "A scoliosis with no known cause." [DOID:0060250, http://en.wikipedia.org/wiki/Scoliosis, PMID:25954032]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060250 {source="MONDO:equivalentTo"}
xref: MEDGEN:671079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:203639008 {source="MONDO:equivalentTo"}
xref: UMLS:C0595995 {source="MEDGEN:671079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005392 {source="DOID:0060250"} ! scoliosis
intersection_of: MONDO:0005392 ! scoliosis
intersection_of: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0000727
name: scapuloperoneal myopathy
def: "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." [DOID:0060253, PMID:28179901]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myopathy, scapuloperoneal" RELATED [MESH:C536624]
synonym: "scapuloperoneal syndrome, myopathic type" RELATED [MESH:C536624]
xref: DOID:0060253 {source="MONDO:equivalentTo"}
xref: MEDGEN:419759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536624 {source="MONDO:equivalentTo"}
xref: UMLS:C2931268 {source="MEDGEN:419759", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016830 {source="MESH:C536624"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0020121 {source="DOID:0060253", source="MESH:C536624/inferred", source="MONDO:Redundant"} ! muscular dystrophy

[Term]
id: MONDO:0000728
name: ptosis
def: "The drooping of the upper eyelid." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "blepharoptosis" EXACT [DOID:0060260]
synonym: "drooping eyelid" EXACT [DOID:0060260]
synonym: "eyelid ptosis" EXACT [NCIT:C27298]
synonym: "ptosis" EXACT [MONDO:ambiguous]
synonym: "ptosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060260 {source="MONDO:equivalentTo"}
xref: HP:0000508 {source="MONDO:otherHierarchy", source="DOID:0060260"}
xref: ICD10CM:H02.4 {source="DOID:0060260"}
xref: ICD10CM:H02.40 {source="DOID:0060260"}
xref: ICD10CM:H02.409 {source="DOID:0060260"}
xref: ICD9:374.3 {source="DOID:0060260"}
xref: ICD9:374.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060260"}
xref: MEDGEN:2287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001763 {source="MONDO:equivalentTo", source="DOID:0060260"}
xref: NCIT:C27298 {source="MONDO:equivalentTo", source="DOID:0060260"}
xref: SCTID:11934000 {source="MONDO:equivalentTo", source="DOID:0060260"}
xref: SCTID:155179008 {source="DOID:0060260"}
xref: SCTID:193942002 {source="DOID:0060260"}
xref: SCTID:193943007 {source="DOID:0060260"}
xref: SCTID:193945000 {source="DOID:0060260"}
xref: SCTID:204197004 {source="DOID:0060260"}
xref: UMLS:C0005745 {source="MEDGEN:2287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:0060260", source="MESH:D001763/inferred"} ! eye disorder
property_value: IAO:0000589 "ptosis (disease)" xsd:string

[Term]
id: MONDO:0000729
name: obsolete congenital ptosis
is_obsolete: true
replaced_by: MONDO:0008340

[Term]
id: MONDO:0000730
name: obsolete pontocerebellar hypoplasia
is_obsolete: true
replaced_by: MONDO:0020135

[Term]
id: MONDO:0000731
name: obsolete peeling skin syndrome
is_obsolete: true
replaced_by: MONDO:0019347

[Term]
id: MONDO:0000732
name: combined oxidative phosphorylation deficiency
def: "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0060286 {source="MONDO:equivalentTo"}
xref: MEDGEN:1626645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:609060 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C4540031 {source="MEDGEN:1626645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial oxidative phosphorylation disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609060"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency" xsd:anyURI {source="GARD:0012893"}

[Term]
id: MONDO:0000733
name: cornea plana
def: "A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies." [Orphanet:53691]
subset: gard_rare {source="GARD:16657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53691"}
subset: orphanet_rare {source="Orphanet:53691"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital cornea plana" EXACT [Orphanet:53691]
synonym: "flat cornea" EXACT [DOID:0060287]
xref: DOID:0060287 {source="MONDO:equivalentTo"}
xref: GARD:16657 {source="MONDO:GARD"}
xref: HP:0007720 {source="DOID:0060287", source="MONDO:otherHierarchy"}
xref: ICD10CM:Q13.4 {source="DOID:0060287", source="MONDO:equivalentTo", source="Orphanet:53691"}
xref: MEDGEN:576329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:121400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:53691 {source="DOID:0060287", source="MONDO:equivalentTo"}
xref: SCTID:204145006 {source="MONDO:equivalentTo"}
xref: UMLS:C0344529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576329"}
is_a: MONDO:0000942 {source="DOID:0060287"} ! corneal disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:121400"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7573" xsd:anyURI

[Term]
id: MONDO:0000734
name: Ohdo syndrome and variants
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Ohdo blepharophimosis syndrome" NARROW [DOID:0060289]
synonym: "Ohdo syndrome" RELATED [DOID:0060289]
xref: DOID:0060289 {source="MONDO:equivalentTo"}
xref: MESH:C536232 {source="DOID:0060289"}
xref: Orphanet:2728 {source="DOID:0060289"}
xref: SCTID:412787009 {source="DOID:0060289"}
is_a: MONDO:0017393 {source="https://orcid.org/0000-0002-6601-2165"} ! blepharophimosis - intellectual disability syndrome

[Term]
id: MONDO:0000735
name: obsolete oculodentodigital dysplasia
is_obsolete: true
replaced_by: MONDO:0008111

[Term]
id: MONDO:0000736
name: dyschromatosis universalis hereditaria
def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." [DOID:0060304, http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria, PMID:12372090]
subset: gard_rare {source="GARD:1996", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:241"}
subset: orphanet_rare {source="Orphanet:241"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DUH" RELATED ABBREVIATION [GARD:0001996]
synonym: "dyschromatosis universalis" EXACT [MONDO:0007484]
xref: DOID:0060304 {source="MONDO:equivalentTo"}
xref: GARD:1996 {source="MONDO:GARD"}
xref: ICD10CM:L81.8 {source="Orphanet:241", source="Orphanet:241/attributed", source="Orphanet:241/ntbt"}
xref: MEDGEN:419691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535730 {source="MONDO:equivalentTo", source="DOID:0060304"}
xref: NCIT:C173131 {source="MONDO:equivalentTo"}
xref: OMIMPS:127500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:241 {source="MONDO:equivalentTo", source="OMIM:127500", source="DOID:0060304"}
xref: SCTID:239082002 {source="MONDO:equivalentTo"}
xref: UMLS:C2930995 {source="MEDGEN:419691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019289 {source="Orphanet:241"} ! hyperpigmentation of the skin
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:127500"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria" xsd:anyURI {source="GARD:0001996"}

[Term]
id: MONDO:0000737
name: obsolete megalocornea
is_obsolete: true
replaced_by: MONDO:0009576

[Term]
id: MONDO:0000738
name: obsolete syndromic X-linked intellectual disability
is_obsolete: true
replaced_by: MONDO:0020119

[Term]
id: MONDO:0000739
name: uvulitis
def: "Inflammation of the uvula." [NCIT:C128385]
synonym: "acute uvulitis" NARROW [DOID:0060310]
synonym: "inflammation of palatine uvula" EXACT []
synonym: "palatine uvula inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:0060310 {source="MONDO:equivalentTo"}
xref: ICD10CM:K12.2 {source="DOID:0060310"}
xref: ICD9:528.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10051962 {source="DOID:0060310"}
xref: MEDGEN:508266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128385 {source="MONDO:equivalentTo"}
xref: SCTID:300932000 {source="MONDO:equivalentTo"}
xref: UMLS:C0042174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508266"}
is_a: MONDO:0004867 {source="DOID:0060310"} ! upper respiratory tract disorder
is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C128385/inferred"} ! mouth disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001734 ! palatine uvula

[Term]
id: MONDO:0000740
name: adenoid hypertrophy
def: "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing." [DOID:0060311, http://en.wikipedia.org/wiki/Adenoid_hypertrophy, http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html, http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm, PMID:21126775]
synonym: "adenoidal hypertrophy" EXACT [DOID:0060311]
synonym: "enlarged adenoids" EXACT [DOID:0060311]
xref: DOID:0060311 {source="MONDO:equivalentTo"}
xref: ICD10CM:J35.2 {source="DOID:0060311"}
xref: ICD9:474.12 {source="DOID:0060311", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10001229 {source="DOID:0060311"}
xref: MEDGEN:628857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111591002 {source="DOID:0060311", source="MONDO:equivalentTo"}
xref: SCTID:195795005 {source="DOID:0060311"}
xref: UMLS:C0455938 {source="MEDGEN:628857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004867 {source="DOID:0060311"} ! upper respiratory tract disorder
relationship: disease_has_location UBERON:0001734 ! palatine uvula

[Term]
id: MONDO:0000741
name: angular cheilitis
def: "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts." [NCIT:C112198]
synonym: "angle of oral opening cheilitis" EXACT [MONDO:patterns/location]
synonym: "angular cheilitis" EXACT [NCIT:C112198]
synonym: "angular cheilosis" EXACT [DOID:0060312]
synonym: "angular stomatitis" EXACT [DOID:0060312]
synonym: "cheilitis of angle of oral opening" EXACT [MONDO:design_pattern]
synonym: "cheilosis" RELATED [DOID:0060312, NCIT:C112198]
synonym: "commissural cheilitis" EXACT [DOID:0060312]
synonym: "perleche" EXACT [NCIT:C112198]
synonym: "perlèche" EXACT [NCIT:C112198]
xref: DOID:0060312 {source="MONDO:equivalentTo"}
xref: ICD10CM:K13.0 {source="DOID:0060312"}
xref: MEDGEN:526202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002613 {source="DOID:0060312"}
xref: NCIT:C112198 {source="MONDO:equivalentTo"}
xref: SCTID:155664000 {source="DOID:0060312"}
xref: SCTID:16459000 {source="MONDO:equivalentTo"}
xref: SCTID:196557006 {source="DOID:0060312"}
xref: SCTID:266495008 {source="DOID:0060312"}
xref: SCTID:7847004 {source="DOID:0060312"}
xref: UMLS:C0221237 {source="MEDGEN:526202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002102 {source="DOID:0060312", source="MONDO:Redundant", source="NCIT:C112198"} ! cheilitis
intersection_of: MONDO:0002102 ! cheilitis
intersection_of: disease_has_location UBERON:0018149 ! angle of oral opening

[Term]
id: MONDO:0000742
name: obsolete persistent generalized lymphadenopathy
synonym: "PGL" EXACT ABBREVIATION [DOID:0060314]
xref: DOID:0060314 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:95892003 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: HP:0008940

[Term]
id: MONDO:0000743
name: oral hairy leukoplakia
def: "An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." [NCIT:P378]
synonym: "hairy leukoplakia" RELATED [DOID:0060315]
synonym: "hairy leukoplakia of mouth" EXACT [NCIT:C3722]
synonym: "hairy leukoplakia of oral mucosa" EXACT [NCIT:C3722]
synonym: "hairy leukoplakia of the mouth" EXACT [NCIT:C3722]
synonym: "hairy leukoplakia of the oral mucosa" EXACT [NCIT:C3722]
synonym: "mouth hairy leukoplakia" EXACT [NCIT:C3722]
synonym: "oral cavity hairy leukoplakia" EXACT [NCIT:C3722]
synonym: "oral hairy keratosis" EXACT [NCIT:C3722]
xref: DOID:0060315 {source="MONDO:equivalentTo"}
xref: ICD10CM:K13.3 {source="MONDO:equivalentTo", source="DOID:0060315"}
xref: ICD9:528.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:104797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017733 {source="MONDO:equivalentTo", source="DOID:0060315"}
xref: NCIT:C3722 {source="MONDO:equivalentTo", source="DOID:0060315"}
xref: SCTID:196569003 {source="DOID:0060315"}
xref: SCTID:414952002 {source="MONDO:equivalentTo", source="DOID:0060315"}
xref: SCTID:58918007 {source="DOID:0060315"}
xref: UMLS:C0206186 {source="MEDGEN:104797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006858 {source="DOID:0060315", source="MESH:D017733/inferred", source="NCIT:C3722/inferred"} ! mouth disorder
relationship: disease_arises_from_feature MONDO:0012268 ! AIDS

[Term]
id: MONDO:0000744
name: lung abscess
def: "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "lung abscess" EXACT [MONDO:ambiguous]
synonym: "lung abscess (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060317 {source="MONDO:equivalentTo"}
xref: EFO:1001362 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0025044 {source="MONDO:otherHierarchy"}
xref: ICD10CM:J85.2 {source="DOID:0060317"}
xref: ICD9:513.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060317"}
xref: MEDGEN:7397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008169 {source="MONDO:equivalentTo", source="DOID:0060317"}
xref: NCIT:C99090 {source="MONDO:equivalentTo", source="DOID:0060317"}
xref: SCTID:155618005 {source="DOID:0060317"}
xref: SCTID:196113000 {source="DOID:0060317"}
xref: SCTID:73452002 {source="MONDO:equivalentTo", source="DOID:0060317"}
xref: UMLS:C0024110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7397"}
is_a: MONDO:0005227 {source="EFO:1001362", source="MESH:D008169", source="NCIT:C99090"} ! abscess
is_a: MONDO:0005275 {source="DOID:0060317", source="MESH:D008169", source="NCIT:C99090/inferred"} ! lung disorder
property_value: IAO:0000589 "lung abscess (disease)" xsd:string

[Term]
id: MONDO:0000745
name: cardiac arrest
def: "Cessation of breathing and/or cardiac function." [NCIT:P378]
synonym: "cardiopulmonary arrest" EXACT [DOID:0060319]
synonym: "circulatory arrest" EXACT [DOID:0060319]
xref: DOID:0060319 {source="MONDO:equivalentTo"}
xref: ICD10CM:I46 {source="MONDO:equivalentTo", source="DOID:0060319"}
xref: ICD9:427.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060319"}
xref: MEDGEN:5456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006323 {source="MONDO:equivalentTo", source="DOID:0060319"}
xref: NCIT:C50479 {source="MONDO:otherHierarchy", source="DOID:0060319"}
xref: NCIT:C50483 {source="MONDO:otherHierarchy", source="DOID:0060319"}
xref: SCTID:155372006 {source="DOID:0060319"}
xref: SCTID:195085006 {source="DOID:0060319"}
xref: SCTID:195090009 {source="DOID:0060319"}
xref: SCTID:233926006 {source="DOID:0060319"}
xref: SCTID:251189000 {source="DOID:0060319"}
xref: SCTID:30298009 {source="DOID:0060319"}
xref: SCTID:309810002 {source="DOID:0060319"}
xref: SCTID:397829000 {source="DOID:0060319"}
xref: SCTID:397912004 {source="DOID:0060319"}
xref: SCTID:410429000 {source="MONDO:equivalentTo", source="DOID:0060319"}
xref: SCTID:410430005 {source="DOID:0060319"}
xref: UMLS:C0018790 {source="MEDGEN:5456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="DOID:0060319/inferred", source="MESH:D006323"} ! heart disorder
is_a: MONDO:0007263 ! cardiac rhythm disease
relationship: excluded_subClassOf MONDO:0005009 {source="DOID:0060319", source="https://orcid.org/0000-0001-5208-3432"} ! congestive heart failure

[Term]
id: MONDO:0000746
name: obsolete inguinal hernia
def: "OBSOLETE. The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region." [NCIT:C34690]
comment: Represents finding.
xref: DOID:0060320 {source="MONDO:obsoleteEquivalent"}
xref: HP:0000023 {source="DOID:0060320", source="MONDO:obsoleteEquivalent", source="MONDO:otherHierarchy"}
xref: ICD10CM:K40 {source="DOID:0060320"}
xref: ICD10CM:K40.90 {source="DOID:0060320"}
xref: ICD9:550 {source="DOID:0060320"}
xref: ICD9:550.90 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: MESH:D006552 {source="DOID:0060320", source="MONDO:obsoleteEquivalent"}
xref: NCIT:C34690 {source="DOID:0060320", source="MONDO:obsoleteEquivalent", source="MONDO:exact-label-match"}
xref: NCIT:C34691 {source="DOID:0060320"}
xref: NCIT:C34692 {source="DOID:0060320"}
xref: SCTID:155738001 {source="DOID:0060320"}
xref: SCTID:155741005 {source="DOID:0060320"}
xref: SCTID:155744002 {source="DOID:0060320"}
xref: SCTID:196800008 {source="DOID:0060320"}
xref: SCTID:196822001 {source="DOID:0060320"}
xref: SCTID:196827007 {source="DOID:0060320"}
xref: SCTID:196828002 {source="DOID:0060320"}
xref: SCTID:261478001 {source="DOID:0060320"}
xref: SCTID:261480007 {source="DOID:0060320"}
xref: SCTID:266440002 {source="DOID:0060320"}
xref: SCTID:266508004 {source="DOID:0060320"}
xref: SCTID:266509007 {source="DOID:0060320"}
xref: SCTID:266510002 {source="DOID:0060320"}
xref: SCTID:286968003 {source="DOID:0060320"}
xref: SCTID:286969006 {source="DOID:0060320"}
xref: SCTID:396232000 {source="DOID:0060320", source="MONDO:obsoleteEquivalent"}
xref: SCTID:44297005 {source="DOID:0060320"}
xref: SCTID:65626001 {source="DOID:0060320"}
xref: SCTID:73147001 {source="DOID:0060320"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1777" xsd:anyURI
is_obsolete: true
consider: HP:0000023

[Term]
id: MONDO:0000747
name: obsolete umbilical hernia
def: "OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac." [NCIT:P378]
comment: Represents finding.
xref: DOID:0060321 {source="MONDO:obsoleteEquivalent"}
xref: HP:0001537 {source="DOID:0060321", source="MONDO:otherHierarchy"}
xref: ICD10CM:Q79.2 {source="DOID:0060321"}
xref: ICD9:553.1 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: ICD9:756.72 {source="DOID:0060321"}
xref: MESH:D006554 {source="DOID:0060321", source="MONDO:obsoleteEquivalent"}
xref: NCIT:C118375 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C98997 {source="DOID:0060321", source="MONDO:relatedTo"}
xref: SCTID:157007005 {source="DOID:0060321"}
xref: SCTID:18735004 {source="DOID:0060321", source="MONDO:relatedTo"}
xref: SCTID:196854005 {source="DOID:0060321"}
xref: SCTID:196872004 {source="DOID:0060321"}
xref: SCTID:205516007 {source="DOID:0060321"}
xref: SCTID:271017007 {source="DOID:0060321"}
xref: SCTID:396347007 {source="DOID:0060321", source="MONDO:obsoleteEquivalent"}
xref: SCTID:49324006 {source="DOID:0060321"}
xref: SCTID:5867007 {source="DOID:0060321"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1777" xsd:anyURI
is_obsolete: true
consider: HP:0001537

[Term]
id: MONDO:0000748
name: mastoiditis
def: "Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process." [NCIT:C128368]
synonym: "inflammation of mastoid process of temporal bone" EXACT []
synonym: "mastoid process of temporal bone inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "mastoid process of temporal boneitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "mastoiditis" EXACT [MONDO:ambiguous]
synonym: "mastoiditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060322 {source="MONDO:equivalentTo"}
xref: HP:0000265 {source="DOID:0060322", source="MONDO:otherHierarchy"}
xref: ICD10CM:H70.9 {source="DOID:0060322"}
xref: ICD10CM:H70.90 {source="DOID:0060322"}
xref: ICD9:383.9 {source="DOID:0060322", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:7480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008417 {source="DOID:0060322", source="MONDO:equivalentTo"}
xref: NCIT:C128368 {source="MONDO:equivalentTo"}
xref: SCTID:155230007 {source="DOID:0060322"}
xref: SCTID:194309002 {source="DOID:0060322"}
xref: SCTID:52404001 {source="DOID:0060322", source="MONDO:equivalentTo"}
xref: UMLS:C0024904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7480"}
is_a: MONDO:0002614 {source="DOID:0060322"} ! bone inflammation disease
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C128368"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0011220 ! mastoid process of temporal bone
property_value: IAO:0000589 "mastoiditis (disease)" xsd:string

[Term]
id: MONDO:0000749
name: breast abscess
def: "A breast disease characterized by a collection of pus in the breast." [DOID:0060323, http://en.wikipedia.org/wiki/Mastitis#Breast_abscess]
xref: DOID:0060323 {source="MONDO:equivalentTo"}
xref: MEDGEN:508760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28432003 {source="MONDO:equivalentTo"}
xref: UMLS:C0151463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508760"}
is_a: MONDO:0002657 {source="DOID:0060323"} ! breast disorder
is_a: MONDO:0005227 {source="https://orcid.org/0000-0002-2825-0621"} ! abscess
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4592" xsd:anyURI

[Term]
id: MONDO:0000750
name: dental abscess
def: "A tooth disease characterized by a localized collection of pus associated with a tooth." [DOID:0060324, http://en.wikipedia.org/wiki/Dental_abscess]
xref: DOID:0060324 {source="MONDO:equivalentTo"}
xref: ICD10CM:K04.6 {source="DOID:0060324"}
xref: MEDGEN:99235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:299709002 {source="MONDO:equivalentTo"}
xref: UMLS:C0518988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99235"}
is_a: MONDO:0006999 {source="DOID:0060324"} ! tooth disorder

[Term]
id: MONDO:0000751
name: cervical polyp
def: "A polyp that arises from the surface of the cervix." [NCIT:P378]
synonym: "adenomatous polyp of cervix" EXACT [NCIT:C2939]
synonym: "adenomatous polyp of the cervix" EXACT [NCIT:C2939]
synonym: "adenomatous polyp of the uterine cervix" EXACT [NCIT:C2939]
synonym: "adenomatous polyp of uterine cervix" EXACT [NCIT:C2939]
synonym: "cervical polyp" EXACT [MONDO:ambiguous, NCIT:C2939]
synonym: "cervical polyp (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cervix adenomatous polyp" EXACT [NCIT:C2939]
synonym: "cervix polyp" EXACT [NCIT:C2939]
synonym: "cervix uteri adenomatous polyp" EXACT [NCIT:C2939]
synonym: "cervix uteri polyp" EXACT [NCIT:C2939]
synonym: "polyp of cervix" EXACT [NCIT:C2939]
synonym: "polyp of cervix uteri" EXACT [NCIT:C2939]
synonym: "polyp of the cervix" EXACT [NCIT:C2939]
synonym: "polyp of the cervix uteri" EXACT [NCIT:C2939]
synonym: "polyp of the uterine cervix" EXACT [NCIT:C2939]
synonym: "polyp of uterine cervix" EXACT [NCIT:C2939]
synonym: "uterine cervix adenomatous polyp" EXACT [NCIT:C2939]
synonym: "uterine cervix polyp" EXACT [MONDO:patterns/location, NCIT:C2939]
xref: DOID:0060325 {source="MONDO:equivalentTo"}
xref: HP:0030159 {source="DOID:0060325", source="MONDO:otherHierarchy"}
xref: ICD10CM:D26 {source="DOID:0060325"}
xref: ICD10CM:D26.9 {source="DOID:0060325"}
xref: ICD9:219 {source="DOID:0060325"}
xref: MEDGEN:507540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2939 {source="MONDO:equivalentTo"}
xref: SCTID:154628008 {source="DOID:0060325"}
xref: SCTID:189107007 {source="DOID:0060325"}
xref: SCTID:65576009 {source="MONDO:equivalentTo"}
xref: UMLS:C0007855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507540"}
is_a: MONDO:0002256 {source="DOID:0060325", source="MONDO:Redundant", source="NCIT:C2939"} ! cervix disorder
is_a: MONDO:0004701 {source="MONDO:Redundant", source="NCIT:C2939"} ! uterine polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
property_value: IAO:0000589 "cervical polyp (disease)" xsd:string

[Term]
id: MONDO:0000752
name: obsolete myelomeningocele
is_obsolete: true
replaced_by: MONDO:0019773

[Term]
id: MONDO:0000753
name: obsolete omphalocele
is_obsolete: true
replaced_by: MONDO:0019015

[Term]
id: MONDO:0000754
name: anal fistula
def: "An intestinal disorder characterized by an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess." [https://orcid.org/0000-0002-0587-4693, NCIT:C60785]
subset: gard_rare {source="GARD:20568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228113"}
subset: orphanet_rare {source="Orphanet:228113"}
subset: rare
synonym: "anal fistula" EXACT [MONDO:ambiguous]
synonym: "anal fistula (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "anorectal fistula" EXACT [NCIT:C60785]
xref: DOID:0060328 {source="MONDO:equivalentTo"}
xref: GARD:20568 {source="MONDO:GARD"}
xref: HP:0010447 {source="MONDO:otherHierarchy", source="DOID:0060328"}
xref: ICD10CM:K60.3 {source="MONDO:equivalentTo", source="DOID:0060328"}
xref: icd11.foundation:206903882 {source="MONDO:equivalentTo", source="Orphanet:228113"}
xref: MEDGEN:61482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012003 {source="MONDO:equivalentTo"}
xref: NCIT:C60785 {source="MONDO:equivalentTo"}
xref: Orphanet:228113 {source="MONDO:equivalentTo"}
xref: SCTID:72779005 {source="MONDO:equivalentTo"}
xref: UMLS:C0205929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61482"}
is_a: MONDO:0001593 {source="DOID:0060328", source="MESH:D012003"} ! rectal disorder
is_a: MONDO:1040017 {source="PMID:32809492"} ! intestinal fistula
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000589 "anal fistula (disease)" xsd:string

[Term]
id: MONDO:0000755
name: ectopic pregnancy
def: "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity." [NCIT:P378]
synonym: "eccyesis" EXACT [DOID:0060329]
synonym: "extrauterine pregnancy" EXACT [NCIT:C34945]
synonym: "pregnancy, ectopic" EXACT [NCIT:C34945]
xref: DOID:0060329 {source="MONDO:equivalentTo"}
xref: ICD10CM:O00 {source="DOID:0060329"}
xref: ICD10CM:O00-O08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:O00.9 {source="DOID:0060329"}
xref: ICD9:633 {source="DOID:0060329"}
xref: ICD9:633.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:633.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060329"}
xref: ICD9:633.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:18618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011271 {source="MONDO:equivalentTo", source="DOID:0060329"}
xref: NCIT:C34945 {source="MONDO:equivalentTo", source="DOID:0060329"}
xref: SCTID:156080003 {source="DOID:0060329"}
xref: SCTID:156083001 {source="DOID:0060329"}
xref: SCTID:198630007 {source="DOID:0060329"}
xref: SCTID:34801009 {source="MONDO:equivalentTo", source="DOID:0060329"}
xref: UMLS:C0032987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18618"}
is_a: MONDO:0002263 {source="DOID:0060329", source="NCIT:C34945/inferred"} ! female reproductive system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6318/ectopic-pregnancy" xsd:anyURI {source="GARD:0006318"}

[Term]
id: MONDO:0000756
name: parameningeal embryonal rhabdomyosarcoma
def: "An embryonal rhabdomyosarcoma located in the parameningeal region." [DOID:0060338, PMID:10717216, PMID:23021437]
comment: Editor note: check subclasses, does not appear to be complete
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060338 {source="MONDO:equivalentTo"}
is_a: MONDO:0009993 {source="DOID:0060338"} ! embryonal rhabdomyosarcoma

[Term]
id: MONDO:0000757
name: glucocorticoid-induced osteoporosis
def: "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." [DOID:0060343, PMID:17566815, PMID:22870429]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "steroid-induced osteoporosis" RELATED [DOID:0060343]
xref: DOID:0060343 {source="MONDO:equivalentTo"}
is_a: MONDO:0005298 {source="DOID:0060343", source="MONDO:indirect"} ! osteoporosis
intersection_of: MONDO:0005298 ! osteoporosis
intersection_of: realized_in_response_to_stimulus CHEBI:24261 ! glucocorticoid

[Term]
id: MONDO:0000758
name: bacillary angiomatosis
def: "A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals." [NCIT:C3477]
synonym: "angiomatoses, bacillary" RELATED [MESH:D016917]
synonym: "angiomatoses, bacillary epithelioid" RELATED [MESH:D016917]
synonym: "angiomatoses, epithelioid" RELATED [MESH:D016917]
synonym: "angiomatosis, bacillary epithelioid" RELATED [MESH:D016917]
synonym: "angiomatosis, epithelioid" RELATED [MESH:D016917]
synonym: "bacillary Angiomatoses" RELATED [MESH:D016917]
synonym: "bacillary angiomatosis" EXACT [MESH:D016917, NCIT:C3477]
synonym: "bacillary epithelioid Angiomatoses" RELATED [MESH:D016917]
synonym: "bacillary epithelioid angiomatosis" EXACT [MESH:D016917, NCIT:C3477]
synonym: "Bartonella angiomatosis" EXACT []
synonym: "Bartonella caused angiomatosis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "epithelioid Angiomatoses" RELATED [MESH:D016917]
synonym: "epithelioid Angiomatoses, bacillary" RELATED [MESH:D016917]
synonym: "epithelioid angiomatosis" EXACT [MESH:D016917, NCIT:C3477]
synonym: "epithelioid angiomatosis, bacillary" RELATED [MESH:D016917]
xref: DOID:0060345 {source="MONDO:equivalentTo"}
xref: ICD9:083.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:88409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016917 {source="DOID:0060345", source="MONDO:equivalentTo"}
xref: NCIT:C3477 {source="DOID:0060345", source="MONDO:equivalentTo"}
xref: SCTID:58213005 {source="DOID:0060345", source="MONDO:equivalentTo"}
xref: UMLS:C0085434 {source="MONDO:equivalentTo", source="MEDGEN:88409", source="MONDO:MEDGEN"}
is_a: MONDO:0005664 {source="DOID:0060345", source="MESH:D016917", source="MONDO:Entailed", source="MONDO:Redundant"} ! bartonellosis
is_a: MONDO:0024295 {source="MESH:D016917"} ! skin disease caused by bacterial infection
is_a: MONDO:0024461 {source="MESH:D016917", source="MONDO:Redundant", source="NCIT:C3477"} ! angiomatosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0024461 ! angiomatosis
intersection_of: disease_has_infectious_agent NCBITaxon:773 ! Bartonella
relationship: disease_has_infectious_agent NCBITaxon:773 ! Bartonella

[Term]
id: MONDO:0000759
name: obsolete acrorenal syndrome
is_obsolete: true
replaced_by: MONDO:0007059

[Term]
id: MONDO:0000760
name: obsolete acrofacial dysostosis
is_obsolete: true
replaced_by: MONDO:0018237

[Term]
id: MONDO:0000761
name: syndrome caused by partial chromosomal deletion
def: "A chromosomal disorder consisting of the absence of a part of a chromosome." [https://orcid.org/0000-0002-4142-7153]
comment: Editor note: this is used in DOID to encompass typically partial deletions
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosomal deletion syndrome" RELATED [DOID:0060388]
synonym: "microdeletion syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/5236, https://orcid.org/0000-0002-4142-7153]
xref: DOID:0060388 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="DOID:0060388"} ! chromosomal disorder
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: has_characteristic SO:1000029 ! chromosomal_deletion

[Term]
id: MONDO:0000762
name: syndrome caused by partial chromosomal duplication
def: "A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome." [https://orcid.org/0000-0002-4142-7153]
comment: This term includes partial trisomy (one additional copy of a chromosome part), and partial tetrasomy (2 additional copies of a chromosome part).\n\nEditor note: this is used in DOID to encompass typically partial duplications
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chromosomal duplication syndrome" RELATED [DOID:0060429]
synonym: "microduplication sydrome" EXACT [https://github.com/monarch-initiative/mondo/issues/5236, https://orcid.org/0000-0002-4142-7153]
xref: DOID:0060429 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="DOID:0060429"} ! chromosomal disorder

[Term]
id: MONDO:0000763
name: epithelial and subepithelial corneal dystrophy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epithelial and subepithelial dystrophy" RELATED [DOID:0060440, https://www.webmedcentral.com/wmcpdf/Article_WMC001598.pdf]
xref: DOID:0060440 {source="MONDO:equivalentTo"}
is_a: MONDO:0018102 {source="DOID:0060440"} ! corneal dystrophy

[Term]
id: MONDO:0000764
name: epithelial-stromal TGFBI dystrophy
def: "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy (disease) caused by mutation in TGFBI" EXACT []
synonym: "TGFBI corneal dystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0060441 {source="MONDO:equivalentTo"}
is_a: MONDO:0018102 {source="DOID:0060441", source="MONDO:Redundant"} ! corneal dystrophy
intersection_of: MONDO:0018102 ! corneal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 ! TGFBI

[Term]
id: MONDO:0000765
name: obsolete corneal stromal dystrophy
is_obsolete: true
replaced_by: MONDO:0020213

[Term]
id: MONDO:0000766
name: corneal endothelial dystrophy
def: "A corneal dystrophy (disease) that involves the corneal epithelium." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy (disease) of corneal epithelium" EXACT []
synonym: "corneal epithelium corneal dystrophy (disease)" RELATED EXCLUDE [MONDO:patterns/location]
synonym: "endothelial dystrophy" RELATED [DOID:0060443]
xref: DOID:0060443 {source="MONDO:equivalentTo"}
xref: ICD9:371.57 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1779156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:416960004 {source="MONDO:equivalentTo"}
xref: UMLS:C5441823 {source="MEDGEN:1779156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018102 {source="DOID:0060443", source="MONDO:Redundant"} ! corneal dystrophy
intersection_of: MONDO:0018102 ! corneal dystrophy
intersection_of: disease_has_location UBERON:0001772 ! corneal epithelium

[Term]
id: MONDO:0000767
name: obsolete nut midline carcinoma
is_obsolete: true
replaced_by: MONDO:0005563

[Term]
id: MONDO:0000768
name: obsolete Zika fever
is_obsolete: true
replaced_by: MONDO:0018661

[Term]
id: MONDO:0000769
name: obsolete chicken egg allergy
def: "OBSOLETE. An egg allergy triggered by Gallus gallus eggs." [DOID:0060492]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271
synonym: "Gallus gallus egg allergy" RELATED [DOID:0060492]
xref: DOID:0060492 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0000770
name: obsolete shellfish allergy
def: "OBSOLETE. Allergic reaction to shellfish or shellfish products." [MESH:D000067208]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: -none
xref: DOID:0060495 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D000067208 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C172320 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:300913006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5914" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0000771
name: allergic respiratory disease
def: "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease]
subset: otar {source="MONDO:OTAR"}
synonym: "airway allergy" EXACT [DOID:0060496]
synonym: "allergic form of respiratory system disease" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic respiratory system disease" EXACT []
synonym: "respiratory allergy" EXACT []
xref: DOID:0060496 {source="MONDO:equivalentTo"}
xref: MEDGEN:734246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1504369 {source="MEDGEN:734246", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005271 {source="DOID:0060496", source="MONDO:Redundant"} ! allergic disease
intersection_of: MONDO:0005087 ! respiratory system disorder
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity

[Term]
id: MONDO:0000772
name: obsolete pollen allergy
def: "OBSOLETE. A allergy involving pollen." [MONDO:patterns/allergy]
synonym: "allergy of pollen" EXACT [MONDO:patterns/allergy]
synonym: "pollen allergic disease" EXACT []
xref: DOID:0060497 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000773
name: obsolete Timothy grass allergy
def: "OBSOLETE. A allergy involving a Phleum pratense." [MONDO:patterns/allergy]
synonym: "allergy of Phleum pratense" EXACT [MONDO:patterns/allergy]
synonym: "Phleum pratense allergic disease" EXACT []
synonym: "Phleum pratense caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0060498 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000774
name: autoimmune neuropathy
def: "An autoimmune form of peripheral neuropathy." [MONDO:patterns/autoimmune]
comment: Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "autoimmune peripheral neuropathy" EXACT [DOID:0040087]
xref: DOID:0040087 {source="MONDO:equivalentTo"}
xref: DOID:0060499 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MEDGEN:1843469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2748363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843469"}
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: excluded_subClassOf MONDO:0000568 {source="DOID:0060499", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disorder of central nervous system
relationship: excluded_subClassOf MONDO:0000590 {source="DOID:0040087", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disorder of peripheral nervous system

[Term]
id: MONDO:0000775
name: drug allergy
def: "Immunologically mediated adverse reactions to medicinal substances used legally or illegally." [MESH:D004342]
subset: otar {source="MONDO:OTAR"}
synonym: "allergy of exposure to drug" EXACT [MONDO:patterns/allergy]
synonym: "exposure to drug allergic disease" EXACT []
xref: DOID:0060500 {source="MONDO:equivalentTo"}
xref: EFO:0009482 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:41663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004342 {source="MONDO:equivalentTo"}
xref: UMLS:C0013182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41663"}
is_a: MONDO:0005271 {source="DOID:0060500", source="MESH:D004342", source="MONDO:Entailed", source="MONDO:Redundant"} ! allergic disease
intersection_of: MONDO:0005271 ! allergic disease
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0000776
name: obsolete metal allergy
def: "OBSOLETE. A allergy involving a metal allergen." [MONDO:patterns/allergy]
synonym: "allergy of metal allergen" EXACT [MONDO:patterns/allergy]
synonym: "metal allergen allergic disease" EXACT []
xref: DOID:0060501 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: SCTID:300915004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000777
name: gastrointestinal allergy
def: "A allergic disease that involves the digestive tract." [MONDO:patterns/location]
synonym: "allergic disease of digestive tract" EXACT [MONDO:design_pattern]
synonym: "digestive tract allergic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0060502 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0221034 {source="MEDGEN:1843477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005271 {source="DOID:0060502", source="MONDO:Entailed", source="MONDO:Redundant"} ! allergic disease
intersection_of: MONDO:0005271 ! allergic disease
intersection_of: disease_has_location UBERON:0001555 ! digestive tract

[Term]
id: MONDO:0000778
name: obsolete fruit allergy
def: "OBSOLETE. A food allergy triggered by a plant fruit product." [DOID:0060503]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271
xref: DOID:0060503 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C172316 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0000779
name: obsolete apple allergy
def: "OBSOLETE. A allergy involving a Malus domestica." [MONDO:patterns/allergy]
synonym: "allergy of Malus domestica" EXACT [MONDO:patterns/allergy]
synonym: "Malus domestica allergic disease" EXACT []
synonym: "Malus domestica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Malus domestica fruit allergy" EXACT [DOID:0060504]
xref: DOID:0060504 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000780
name: obsolete apricot allergy
def: "OBSOLETE. A allergy involving a Prunus armeniaca." [MONDO:patterns/allergy]
synonym: "allergy of Prunus armeniaca" EXACT [MONDO:patterns/allergy]
synonym: "Prunus armeniaca allergic disease" EXACT []
synonym: "Prunus armeniaca caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Prunus armeniaca fruit allergy" EXACT [DOID:0060505]
xref: DOID:0060505 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000781
name: obsolete cherry allergy
def: "OBSOLETE. A fruit allergy triggered by Prunus avium plant fruit food product." [DOID:0060506]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271
synonym: "Prunus avium fruit allergy" EXACT [DOID:0060506]
xref: DOID:0060506 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0000782
name: obsolete Indian plum allergy
def: "OBSOLETE. A fruit allergy triggered by Ziziphus mauritiana plant fruit food product." [DOID:0060507]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271
synonym: "Ziziphus mauritiana fruit allergy" EXACT [DOID:0060507]
xref: DOID:0060507 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0000783
name: obsolete orange allergy
def: "OBSOLETE. A fruit allergy triggered by Citrus sinensis plant fruit food product." [DOID:0060508]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271
synonym: "Citrus sinensis fruit allergy" EXACT [DOID:0060508]
synonym: "orange allergy" EXACT [DOID:0060508]
xref: DOID:0060508 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0000784
name: obsolete melon allergy
def: "OBSOLETE. A fruit allergy triggered by Cucumis melo plant fruit food product." [DOID:0060509]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271
synonym: "Cucumis melo fruit allergy" EXACT [DOID:0060509]
xref: DOID:0060509 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0000785
name: obsolete peach allergy
def: "OBSOLETE. A allergy involving a Prunus persica." [MONDO:patterns/allergy]
synonym: "allergy of Prunus persica" EXACT [MONDO:patterns/allergy]
synonym: "Prunus persica allergic disease" EXACT []
synonym: "Prunus persica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Prunus persica fruit allergy" EXACT [DOID:0060510]
xref: DOID:0060510 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000786
name: obsolete plum allergy
def: "OBSOLETE. A allergy involving a Prunus domestica." [MONDO:patterns/allergy]
synonym: "allergy of Prunus domestica" EXACT [MONDO:patterns/allergy]
synonym: "Prunus domestica allergic disease" EXACT []
synonym: "Prunus domestica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Prunus domestica fruit allergy" EXACT [DOID:0060511]
xref: DOID:0060511 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000787
name: obsolete tomato allergy
def: "OBSOLETE. A allergy involving a Solanum lycopersicum." [MONDO:patterns/allergy]
synonym: "allergy of Solanum lycopersicum" EXACT [MONDO:patterns/allergy]
synonym: "Solanum lycopersicum allergic disease" EXACT []
synonym: "Solanum lycopersicum caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Solanum lycopersicum fruit allergy" EXACT [DOID:0060512]
xref: DOID:0060512 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000788
name: obsolete fish allergy
def: "OBSOLETE. A allergy involving fish." [MONDO:patterns/allergy]
synonym: "allergy of fish food product" EXACT [MONDO:patterns/allergy]
synonym: "fish food product allergic disease" EXACT []
xref: DOID:0060513 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000789
name: obsolete Atlantic cod allergy
def: "OBSOLETE. A allergy involving a Gadus morhua." [MONDO:patterns/allergy]
synonym: "allergy of Gadus morhua" EXACT [MONDO:patterns/allergy]
synonym: "Gadus morhua allergic disease" EXACT []
synonym: "Gadus morhua caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Gadus morhua fish allergy" EXACT [DOID:0060514]
xref: DOID:0060514 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000790
name: obsolete Atlantic salmon allergy
def: "OBSOLETE. A allergy involving a Salmo salar." [MONDO:patterns/allergy]
synonym: "allergy of Salmo salar" EXACT [MONDO:patterns/allergy]
synonym: "Salmo salar allergic disease" EXACT []
synonym: "Salmo salar caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Salmo salar fish allergy" EXACT [DOID:0060515]
xref: DOID:0060515 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000791
name: obsolete carp allergy
def: "OBSOLETE. A allergy involving a Cyprinus carpio." [MONDO:patterns/allergy]
synonym: "allergy of Cyprinus carpio" EXACT [MONDO:patterns/allergy]
synonym: "Cyprinus carpio allergic disease" EXACT []
synonym: "Cyprinus carpio caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cyprinus carpio fish allergy" EXACT [DOID:0060516]
xref: DOID:0060516 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000792
name: obsolete zebrafish allergy
xref: DOID:0060517 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000793
name: obsolete rainbow trout allergy
def: "OBSOLETE. A allergy involving a Oncorhynchus mykiss." [MONDO:patterns/allergy]
synonym: "allergy of Oncorhynchus mykiss" EXACT [MONDO:patterns/allergy]
synonym: "Oncorhynchus mykiss allergic disease" EXACT []
synonym: "Oncorhynchus mykiss allergy" EXACT [DOID:0060518]
synonym: "Oncorhynchus mykiss caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0060518 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000794
name: obsolete beta-lactam allergy
def: "OBSOLETE. A allergy involving a beta-lactam." [MONDO:patterns/allergy]
synonym: "allergy of beta-lactam" EXACT [MONDO:patterns/allergy]
synonym: "beta-lactam allergic disease" EXACT []
xref: DOID:0060519 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000795
name: obsolete penicillin allergy
def: "OBSOLETE. An allergy to Penicillin." [NCIT:C34911]
synonym: "allergy of penicillin" EXACT [MONDO:patterns/allergy]
synonym: "penicillin allergic disease" EXACT []
xref: DOID:0060520 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:995.27 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:V14.0 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: NCIT:C34911 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:91936005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000796
name: obsolete cow milk allergy
def: "OBSOLETE. A allergy involving cow mile." [MONDO:patterns/allergy]
synonym: "allergy of cow milk based food product" EXACT [MONDO:patterns/allergy]
synonym: "Bos taurus milk allergy" EXACT [DOID:0060521]
synonym: "cow milk allergy" EXACT [MONDO:ambiguous]
synonym: "cow milk based food product allergic disease" EXACT []
synonym: "obsolete cow milk allergy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060521 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
property_value: IAO:0000589 "obsolete cow milk allergy (disease)" xsd:string
is_obsolete: true
consider: HP:0100327 {source="MONDO:otherHierarchy"}

[Term]
id: MONDO:0000797
name: obsolete goat milk allergy
def: "OBSOLETE. A allergy involving goat milk." [MONDO:patterns/allergy]
synonym: "allergy of goat dairy food product" EXACT [MONDO:patterns/allergy]
synonym: "Capra hircus milk allergy" EXACT [DOID:0060522]
synonym: "goat dairy food product allergic disease" EXACT []
xref: DOID:0060522 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000798
name: obsolete mollusc allergy
def: "OBSOLETE. A allergic disease involving a mollusc food product." [MONDO:patterns/allergy]
synonym: "allergy of mollusc food product" EXACT [MONDO:patterns/allergy]
synonym: "mollusc food product allergic disease" EXACT []
xref: DOID:0060523 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000799
name: obsolete crustacean allergy
def: "OBSOLETE. A allergic disease involving a crustacean food product." [MONDO:patterns/allergy]
synonym: "allergy of crustacean food product" EXACT [MONDO:patterns/allergy]
synonym: "crustacean food product allergic disease" EXACT []
xref: DOID:0060524 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000800
name: obsolete brown shrimp allergy
def: "OBSOLETE. A allergic disease involving a brown shrimp." [MONDO:patterns/allergy]
synonym: "allergy of brown shrimp" EXACT [MONDO:patterns/allergy]
synonym: "brown shrimp allergic disease" EXACT []
synonym: "Farfantepenaeus aztecus allergy" EXACT [DOID:0060525]
xref: DOID:0060525 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000801
name: obsolete green mud crab allergy
def: "OBSOLETE. A allergic disease involving a green mud crab." [MONDO:patterns/allergy]
synonym: "allergy of green mud crab" EXACT [MONDO:patterns/allergy]
synonym: "crab allergy" RELATED [DOID:0060526]
synonym: "green mud crab allergic disease" EXACT []
synonym: "Scylla paramamosain allergy" EXACT [DOID:0060526]
xref: DOID:0060526 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000802
name: obsolete Indian prawn allergy
def: "OBSOLETE. A allergic disease involving a Indian prawn." [MONDO:patterns/allergy]
synonym: "allergy of Indian prawn" EXACT [MONDO:patterns/allergy]
synonym: "Fenneropenaeus indicus allergy" EXACT [DOID:0060527]
synonym: "Indian prawn allergic disease" EXACT []
xref: DOID:0060527 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000803
name: obsolete tiger prawn allergy
def: "OBSOLETE. A allergy involving a Penaeus monodon." [MONDO:patterns/allergy]
synonym: "allergy of Penaeus monodon" EXACT [MONDO:patterns/allergy]
synonym: "Penaeus monodon allergic disease" EXACT []
synonym: "Penaeus monodon allergy" EXACT [DOID:0060528]
synonym: "Penaeus monodon caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0060528 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000804
name: obsolete white shrimp allergy
def: "OBSOLETE. A allergy involving a Litopenaeus schmitti." [MONDO:patterns/allergy]
synonym: "allergy of Litopenaeus schmitti" EXACT [MONDO:patterns/allergy]
synonym: "Litopenaeus schmitti allergic disease" EXACT []
synonym: "Litopenaeus schmitti caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Litopenaeus vannamei allergy" EXACT [DOID:0060529]
xref: DOID:0060529 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000805
name: obsolete snail allergy
def: "OBSOLETE. A allergic disease involving a snail food product." [MONDO:patterns/allergy]
synonym: "allergy of snail food product" EXACT [MONDO:patterns/allergy]
synonym: "snail food product allergic disease" EXACT []
xref: DOID:0060530 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000806
name: obsolete horned turban snail allergy
def: "OBSOLETE. A allergy involving a Turbo cornutus." [MONDO:patterns/allergy]
synonym: "allergy of Turbo cornutus" EXACT [MONDO:patterns/allergy]
synonym: "Turbo cornutus allergic disease" EXACT []
synonym: "Turbo cornutus allergy" EXACT [DOID:0060531]
synonym: "Turbo cornutus caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0060531 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000807
name: latex allergy
def: "Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein." [MESH:D020315]
comment: Editor note: TODO request
xref: DOID:0060532 {source="MONDO:equivalentTo"}
xref: ICD9:989.82 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:V15.07 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:107909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020315 {source="MONDO:equivalentTo"}
xref: SCTID:300916003 {source="MONDO:equivalentTo"}
xref: UMLS:C0577628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107909"}
is_a: MONDO:0005271 {source="DOID:0060532", source="MESH:D020315"} ! allergic disease

[Term]
id: MONDO:0000808
name: obsolete hepatoid adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006243

[Term]
id: MONDO:0000809
name: purpura fulminans
def: "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation." [MESH:D055665]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fibrinolytic purpura" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "purpura gangrenosa" EXACT [DOID:0060538]
xref: DOID:0060538 {source="MONDO:equivalentTo"}
xref: ICD10CM:D65 {source="DOID:0060538"}
xref: MEDGEN:88448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055665 {source="MONDO:equivalentTo", source="DOID:0060538"}
xref: SCTID:13507004 {source="MONDO:equivalentTo"}
xref: UMLS:C0085650 {source="MEDGEN:88448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001243 {source="https://orcid.org/0000-0002-6601-2165"} ! disseminated intravascular coagulation
is_a: MONDO:0002610 {source="DOID:0060538", source="MESH:D055665"} ! purpura

[Term]
id: MONDO:0000810
name: obsolete DMD-related dilated cardiomyopathy
def: "OBSOLETE. A dilated cardiomyopathy that has material basis in mutations in the DMD gene." [DOID:0060561, https://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy]
is_obsolete: true
replaced_by: MONDO:0010542

[Term]
id: MONDO:0000811
name: anomalous left coronary artery from the pulmonary artery
def: "A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life." [MESH:D063748]
synonym: "ALCAPA" EXACT ABBREVIATION [DOID:0060562]
synonym: "ALCAPA disorder" EXACT [PMID:24086793]
synonym: "Bland-White-Garland syndrome" EXACT [DOID:0060562, PMID:24086793]
synonym: "BWGS" EXACT ABBREVIATION [PMID:24086793]
synonym: "White-Garland syndrome" EXACT [DOID:0060562]
xref: DOID:0060562 {source="MONDO:equivalentTo"}
xref: MEDGEN:760471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D063748 {source="DOID:0060562", source="MONDO:equivalentTo"}
xref: NANDO:2200242 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C1735886 {source="MEDGEN:760471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001389 {source="DOID:0060562"} ! congenital coronary artery anomaly

[Term]
id: MONDO:0000812
name: vertebral column disorder
def: "A disease involving the vertebral column." [MONDO:patterns/location_top]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of spine" EXACT []
synonym: "disease of vertebral column" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vertebral column" EXACT []
synonym: "disorder of vertebral column" EXACT [MONDO:patterns/location_top]
synonym: "spinal disease" RELATED [DOID:0060564]
synonym: "vertebral column disease" EXACT [MONDO:patterns/location]
synonym: "vertebral column disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0060564 {source="MONDO:equivalentTo"}
xref: ICD9:724.9
xref: MEDGEN:52455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013122 {source="MONDO:equivalentTo"}
xref: SCTID:699699005 {source="MONDO:equivalentTo"}
xref: UMLS:C0037933 {source="MEDGEN:52455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="DOID:0060564", source="MESH:D013122/inferred"} ! musculoskeletal system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001130 ! vertebral column

[Term]
id: MONDO:0000813
name: cardiac tuberculosis
def: "Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium." [MESH:D014381]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cardiovascular tuberculosis" NARROW [DOID:0060570]
xref: DOID:0060570 {source="MONDO:equivalentTo"}
xref: MEDGEN:1830134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014381 {source="MONDO:equivalentTo", source="DOID:0060570"}
xref: UMLS:C5704594 {source="MEDGEN:1830134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0000948 ! heart
relationship: excluded_subClassOf MONDO:0018076 {source="DOID:0060570", source="EFO:1001442", source="MESH:D014381", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4143" xsd:anyURI

[Term]
id: MONDO:0000814
name: B-cell adult acute lymphocytic leukemia
def: "An acute B-lymphoblastic leukemia occurring in adults." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult B acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult B acute lymphoblastic leukemia" EXACT [DOID:0060592]
synonym: "adult B cell acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult B cell acute lymphoblastic leukemia" EXACT [NCIT:C9143]
synonym: "adult B cell acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "adult B cell acute lymphocytic leukemia" EXACT [NCIT:C9143]
synonym: "adult B cell ALL" EXACT [NCIT:C9143]
synonym: "adult B-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult B-cell acute lymphoblastic leukemia" EXACT [DOID:0060592]
synonym: "adult B-cell acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "adult B-cell acute lymphocytic leukemia" EXACT [NCIT:C9143]
synonym: "adult B-cell ALL" EXACT [NCIT:C9143]
synonym: "adult B-cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult B-cell childhood acute lymphoblastic leukemia" EXACT [MONDO:design_pattern]
synonym: "adult B-cell lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "adult B-cell lymphocytic leukemia" EXACT [DOID:0060592]
synonym: "adult B-lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult B-lymphoblastic leukemia" EXACT [DOID:0060592]
synonym: "adult precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult precursor B-lymphoblastic leukemia" EXACT [NCIT:C9143]
synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 []
synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9143]
synonym: "B cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "B cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143]
synonym: "B cell adult acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B cell adult acute lymphocytic leukemia" EXACT [NCIT:C9143]
synonym: "B cell adult ALL" EXACT [NCIT:C9143]
synonym: "B-cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "B-cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143]
synonym: "B-cell adult ALL" EXACT [NCIT:C9143]
synonym: "B-cell childhood acute lymphoblastic leukaemia of adults" EXACT OMO:0003005 []
synonym: "B-cell childhood acute lymphoblastic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:0060592 {source="MONDO:equivalentTo"}
xref: EFO:1001935 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9143 {source="MONDO:equivalentTo", source="DOID:0060592"}
xref: UMLS:C0279593 {source="MONDO:equivalentTo", source="MEDGEN:79010", source="MONDO:MEDGEN"}
is_a: MONDO:0003541 {source="DOID:0060592", source="NCIT:C9143"} ! adult acute lymphoblastic leukemia
is_a: MONDO:0020511 {source="MONDO:0000814/inferred", source="NCIT:C9143"} ! precursor B-cell acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000815
name: fetal nicotine spectrum disorder
def: "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy." [DOID:0060606, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/, PMID:20363831]
xref: DOID:0060606 {source="MONDO:equivalentTo"}
is_a: MONDO:0000592 {source="DOID:0060606"} ! specific developmental disorder

[Term]
id: MONDO:0000816
name: abdominal obesity-metabolic syndrome
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "metabolic syndrome" EXACT [NCIT:C84442]
synonym: "metabolic syndrome X" NARROW [NCIT:C84442]
xref: DOID:0060611 {source="MONDO:equivalentTo"}
xref: ICD10CM:E88.81 {source="MONDO:equivalentTo"}
xref: ICD9:277.7 {source="EFO:0000195"}
xref: MEDGEN:419670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535554 {source="MONDO:equivalentTo"}
xref: MESH:D024821 {source="EFO:0000195"}
xref: NCIT:C84442 {source="EFO:0000195", source="MONDO:equivalentTo"}
xref: OMIMPS:605552 {source="DOID:0060611", source="MONDO:equivalentTo"}
xref: Orphanet:411969 {source="MONDO:equivalentObsolete"}
xref: SCTID:237602007 {source="EFO:0000195"}
xref: UMLS:C2930930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419670"}
is_a: MONDO:0002254 {source="NCIT:C84442"} ! syndromic disease
is_a: MONDO:0003916 {source="DOID:0060611"} ! overnutrition
is_a: MONDO:0005066 {source="EFO:0000195", source="ICD10CM:E88.81/inferred"} ! metabolic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:605552"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4425" xsd:anyURI

[Term]
id: MONDO:0000817
name: obsolete MONDO:0000817
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010015

[Term]
id: MONDO:0000818
name: obsolete lethal congenital contracture syndrome 4
is_obsolete: true
replaced_by: MONDO:0013965

[Term]
id: MONDO:0000819
name: anencephaly
def: "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." [NCIT:C84560]
subset: otar {source="MONDO:OTAR"}
synonym: "anencephalus" EXACT [NCIT:C84560]
xref: DOID:0060668 {source="MONDO:equivalentTo"}
xref: ICD10CM:00.0 {source="DOID:0060668"}
xref: MEDGEN:8068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000757 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C84560 {source="MONDO:equivalentTo"}
xref: OMIMPS:206500 {source="MONDO:equivalentTo"}
xref: Orphanet:1048 {source="DOID:0060668"}
xref: UMLS:C0002902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8068"}
is_a: MONDO:0002320 {source="DOID:0060668"} ! congenital nervous system disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:206500"} ! inherited

[Term]
id: MONDO:0000820
name: cerebral cavernous malformation
def: "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." [NCIT:C84626]
subset: otar {source="MONDO:OTAR"}
synonym: "brain cavernous hemangioma" EXACT [Orphanet:164]
synonym: "cavernous angiomatous malformations" EXACT [DOID:0060669]
synonym: "CCM" EXACT ABBREVIATION [DOID:0060669]
synonym: "cerebral capillary malformations" EXACT [DOID:0060669]
synonym: "cerebral cavernous malformation" EXACT CLINGEN_LABEL []
synonym: "familial cavernous angioma" RELATED [DOID:0060669]
xref: DOID:0060669 {source="MONDO:equivalentTo"}
xref: MEDGEN:418825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84626 {source="MONDO:equivalentTo"}
xref: Orphanet:164 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2919945 {source="MEDGEN:418825", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="NCIT:C4976", source="NCIT:C84626/inferred"} ! congenital nervous system disorder
relationship: excluded_subClassOf MONDO:0003241 {source="DOID:0060669", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system hemangioma

[Term]
id: MONDO:0000821
name: obsolete MONDO:0000821
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011305

[Term]
id: MONDO:0000822
name: obsolete lymphoproliferative syndrome
is_obsolete: true
replaced_by: MONDO:0016537

[Term]
id: MONDO:0000823
name: obsolete MONDO:0000823
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0012705

[Term]
id: MONDO:0000824
name: congenital diarrhea
synonym: "diarrhea, congenital" EXACT [MONDO:0000117]
xref: DOID:0060774 {source="MONDO:equivalentTo"}
xref: OMIMPS:214700 {source="DOID:0060774", source="MONDO:equivalentTo"}
is_a: MONDO:0001673 {source="DOID:0060774", source="MONDO:Redundant"} ! diarrheal disease
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: has_characteristic HP:0003577 ! Congenital onset
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:214700"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0000825
name: obsolete hypomyelinating leukodystrophy
is_obsolete: true
replaced_by: MONDO:0019046

[Term]
id: MONDO:0000826
name: obsolete syndromic X-linked intellectual disability Cabezas type
is_obsolete: true
replaced_by: MONDO:0010306

[Term]
id: MONDO:0000827
name: salmonellosis
def: "Infections with bacteria of the genus salmonella." [MESH:D012480]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:795"}
subset: otar {source="MONDO:OTAR"}
synonym: "infections, Salmonella" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "rare form of salmonellosis" EXACT [MONDO:0019331]
synonym: "Salmonella infection" EXACT [DOID:0060859, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:0060859 {source="MONDO:equivalentTo"}
xref: ICD10CM:A01.0 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD10CM:A01.1 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD10CM:A01.2 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD10CM:A01.3 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD10CM:A01.4 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD10CM:A02.0 {source="Orphanet:795/btnt", source="DOID:0060859", source="Orphanet:795"}
xref: ICD10CM:A02.1 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD10CM:A02.2 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD10CM:A02.8 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD10CM:A02.9 {source="Orphanet:795/btnt", source="Orphanet:795"}
xref: ICD9:003.0 {source="MONDO:relatedTo", source="DOID:0060859"}
xref: ICD9:003.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:003.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10039447 {source="Orphanet:795/e", source="Orphanet:795"}
xref: MEDGEN:48542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012480 {source="MONDO:equivalentTo"}
xref: NCIT:C157974 {source="MONDO:equivalentTo"}
xref: Orphanet:795 {source="MONDO:equivalentTo"}
xref: SCTID:302231008 {source="MONDO:equivalentTo"}
xref: UMLS:C0036117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48542"}
is_a: MONDO:0000314 {source="DOID:0060859"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="Orphanet:795"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:590 ! Salmonella
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI

[Term]
id: MONDO:0000828
name: juvenile-onset Parkinson disease
comment: Editor notes: check onset axioms
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile-onset Parkinson's disease" RELATED [DOID:0060893]
xref: DOID:0060893 {source="MONDO:equivalentTo"}
xref: MEDGEN:155699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0752105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155699"}
is_a: MONDO:0017279 {source="DOID:0060893"} ! young-onset Parkinson disease
intersection_of: MONDO:0005180 ! Parkinson disease
intersection_of: has_characteristic HP:0003621 ! Juvenile onset
relationship: has_onset_before HsapDv:0000114 {source="https://medlineplus.gov/genetics/condition/parkinson-disease/"} ! 20-year-old stage

[Term]
id: MONDO:0000829
name: obsolete early-onset Parkinson disease
is_obsolete: true
replaced_by: MONDO:0017279

[Term]
id: MONDO:0000830
name: obsolete Waldenstroem's macroglobulinemia
is_obsolete: true
replaced_by: MONDO:0007926

[Term]
id: MONDO:0000831
name: thrombotic disease
def: "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury." [NCIT:C26891]
subset: otar {source="MONDO:OTAR"}
synonym: "blood clot" EXACT [MESH:D013927]
synonym: "blood Clots" EXACT [MESH:D013927]
synonym: "clot, blood" EXACT [MESH:D013927]
synonym: "Clots, blood" EXACT [MESH:D013927]
synonym: "Thromboses" EXACT [MESH:D013927]
synonym: "thrombosis" EXACT [NCIT:C26891]
synonym: "thrombotic disorder" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "thrombus" EXACT [MESH:D013927]
xref: DOID:0060903 {source="MONDO:equivalentTo"}
xref: ICD9:453.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013927 {source="MONDO:equivalentTo"}
xref: NCIT:C26891 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:439127006 {source="MONDO:equivalentTo"}
xref: UMLS:C0040053 {source="MEDGEN:21160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="DOID:0060903", source="MESH:D013927/inferred", source="NCIT:C26891/inferred"} ! vascular disorder

[Term]
id: MONDO:0000832
name: obsolete myeloid neoplasm
is_obsolete: true
replaced_by: MONDO:0005170

[Term]
id: MONDO:0000833
name: bone remodeling disease
def: "A bone disease that results in formation or resorption abnormalities located in bone." [DOID:0080005, http://en.wikipedia.org/wiki/Bone_remodeling]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0080005 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005381 ! bone disorder
intersection_of: disease_disrupts GO:0046849 ! bone remodeling

[Term]
id: MONDO:0000834
name: obsolete bone deterioration disease
def: "OBSOLETE. A bone structure disease that results in change or damage of structure located in bone." [DOID:0080007, http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm]
comment: This term is out of scope for Mondo.
xref: DOID:0080007 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/503" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000835
name: obsolete ischemic bone disease
is_obsolete: true
replaced_by: MONDO:0005380

[Term]
id: MONDO:0000836
name: disease of bone structure
subset: otar {source="MONDO:OTAR"}
synonym: "bone structure disease" RELATED [DOID:0080010]
xref: DOID:0080010 {source="MONDO:equivalentTo"}
xref: ICD10CM:M40-M43 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M45-M49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M50-M54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1843487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0477681 {source="MONDO:equivalentTo", source="MEDGEN:1843487", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 {source="DOID:0080010"} ! bone disorder
relationship: disease_has_major_feature HP:0011842 ! Abnormal skeletal morphology

[Term]
id: MONDO:0000837
name: bone resorption disease
def: "A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products." []
subset: otar {source="MONDO:OTAR"}
xref: DOID:0080011 {source="MONDO:equivalentTo"}
xref: MEDGEN:14188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001862 {source="DOID:0080011", source="MONDO:equivalentTo"}
xref: UMLS:C0005974 {source="MEDGEN:14188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000833 ! bone remodeling disease
intersection_of: disease_disrupts GO:0045453 ! bone resorption

[Term]
id: MONDO:0000838
name: obsolete chromosomal disease
is_obsolete: true
replaced_by: MONDO:0019040

[Term]
id: MONDO:0000839
name: obsolete congenital abnormality
def: "OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." [NCIT:C2849]
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
synonym: "birth defect" EXACT [NCIT:C2849]
synonym: "CM - congenital malformation" RELATED []
synonym: "congenital Abnormality" EXACT [NCIT:C2849]
synonym: "congenital abnormality" EXACT []
synonym: "congenital anatomic Abnormality" EXACT [NCIT:C2849]
synonym: "congenital anatomical Abnormality" EXACT [NCIT:C2849]
synonym: "congenital anomalies of fetus" EXACT [NCIT:C2849]
synonym: "congenital anomaly" EXACT [NCIT:C2849]
synonym: "congenital anomaly or birth defect" EXACT [NCIT:C2849]
synonym: "congenital defect" EXACT [NCIT:C2849]
synonym: "congenital defect/deformity" EXACT [NCIT:C2849]
synonym: "congenital deformity" EXACT [NCIT:C2849]
synonym: "congenital malformation" EXACT [NCIT:C2849]
synonym: "defect/deformity, Congenital" EXACT [NCIT:C2849]
synonym: "defect/deformity, congenital" EXACT [NCIT:C2849]
synonym: "deformity/defect, Congenital" EXACT [NCIT:C2849]
synonym: "fetal developmental abnormality" RELATED []
synonym: "fetal malformation" RELATED []
synonym: "physical disorder" EXACT []
synonym: "SCONG" EXACT ABBREVIATION [NCIT:C2849]
xref: DOID:0080015 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:759.89
xref: ICD9:759.9
xref: MESH:D000013 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:1200957 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2849 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:276654001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000840
name: dysbaric osteonecrosis
def: "A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism." [http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "caisson disease of bone" EXACT [DOID:0080018]
synonym: "DON" EXACT ABBREVIATION [DOID:0080018]
xref: DOID:0080018 {source="MONDO:equivalentTo"}
xref: MEDGEN:782135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:431591000124102 {source="MONDO:equivalentTo"}
xref: UMLS:C3494941 {source="MEDGEN:782135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005380 {source="DOID:0080018"} ! osteonecrosis
is_a: MONDO:0018373 {source="Wikipedia:Dysbaric_osteonecrosis"} ! avascular necrosis

[Term]
id: MONDO:0000841
name: obsolete metaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0009943

[Term]
id: MONDO:0000842
name: obsolete MONDO:0000842
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007982

[Term]
id: MONDO:0000843
name: obsolete MONDO:0000843
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009833

[Term]
id: MONDO:0000844
name: obsolete spondyloepimetaphyseal dysplasia
comment: Obsolete in ORDO, consider merge with MONDO:0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0016761

[Term]
id: MONDO:0000845
name: fibrous dysplasia
def: "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." [NCIT:C34609]
subset: gard_rare {source="GARD:6444", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1147"}
subset: ordo_disorder {source="Orphanet:249"}
subset: ordo_malformation_syndrome {source="Orphanet:249"}
subset: orphanet_rare {source="Orphanet:249"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibrous dysplasia of bone" EXACT [NCIT:C34609]
xref: DOID:0080031 {source="MONDO:equivalentTo"}
xref: GARD:6444 {source="MONDO:GARD"}
xref: ICD10CM:Q78.1 {source="Orphanet:249", source="Orphanet:249/e", source="Orphanet:249/specific"}
xref: icd11.foundation:1704766818 {source="Orphanet:249", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10016664 {source="Orphanet:249", source="Orphanet:249/e"}
xref: MEDGEN:120444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005357 {source="Orphanet:249", source="MONDO:equivalentTo", source="Orphanet:249/e"}
xref: NCIT:C34609 {source="MONDO:equivalentTo"}
xref: NORD:1147 {source="MONDO:NORD"}
xref: Orphanet:249 {source="MONDO:equivalentTo"}
xref: SCTID:10623005 {source="MONDO:equivalentTo"}
xref: SCTID:254145001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0259779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120444"}
is_a: MONDO:0000833 {source="DOID:0080031"} ! bone remodeling disease
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:249", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0000846
name: obsolete craniodiaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0009031

[Term]
id: MONDO:0000847
name: obsolete pycnodysostosis
is_obsolete: true
replaced_by: MONDO:0009940

[Term]
id: MONDO:0000848
name: obsolete axial osteomalacia
is_obsolete: true
replaced_by: MONDO:0007181

[Term]
id: MONDO:0000849
name: fibrogenesis imperfecta ossium
def: "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures." [DOID:0080040, http://www.medcyclopaedia.com/library/topics/volume_iii_1/f/fibrogenesis_imperfecta_ossium.aspx, PMID:7559718]
synonym: "baker's disease" EXACT [DOID:0080040]
xref: DOID:0080040 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0080040"} ! syndromic disease

[Term]
id: MONDO:0000850
name: obsolete hypochondroplasia
is_obsolete: true
replaced_by: MONDO:0007793

[Term]
id: MONDO:0000851
name: obsolete achondrogenesis
is_obsolete: true
replaced_by: MONDO:0019648

[Term]
id: MONDO:0000852
name: obsolete hypochondrogenesis
is_obsolete: true
replaced_by: MONDO:0019669

[Term]
id: MONDO:0000853
name: obsolete Kniest dysplasia
is_obsolete: true
replaced_by: MONDO:0007987

[Term]
id: MONDO:0000854
name: obsolete Stickler syndrome
is_obsolete: true
replaced_by: MONDO:0019354

[Term]
id: MONDO:0000855
name: obsolete acromesomelic dysplasia
is_obsolete: true
replaced_by: MONDO:0019696

[Term]
id: MONDO:0000856
name: obsolete Charcot-Marie-Tooth disease type 6
is_obsolete: true
replaced_by: MONDO:0019551

[Term]
id: MONDO:0000857
name: obsolete Charcot-Marie-Tooth disease type 7
def: "OBSOLETE. A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." [DOID:0080069, PMID:25491489]
xref: DOID:0080069 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0000858
name: neuronal intestinal dysplasia
xref: DOID:0080072 {source="MONDO:equivalentTo"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:576840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:253783001 {source="MONDO:equivalentTo"}
xref: UMLS:C0345244 {source="MEDGEN:576840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003409 {source="DOID:0080072"} ! colonic disorder

[Term]
id: MONDO:0000859
name: spina bifida occulta
def: "The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic." [NCIT:C101044]
subset: gard_rare {source="GARD:10787", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:645202"}
subset: rare
synonym: "closed spinal dysraphism" EXACT [Orphanet:645202]
synonym: "spina bifida occulta" EXACT [MONDO:ambiguous]
synonym: "spina bifida occulta (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0080073 {source="MONDO:equivalentTo"}
xref: GARD:10787 {source="MONDO:GARD"}
xref: HP:0003298 {source="MONDO:otherHierarchy"}
xref: icd11.foundation:449489594 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:645202"}
xref: ICD9:756.17 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:36380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016136 {source="MONDO:equivalentTo"}
xref: NCIT:C101044 {source="MONDO:equivalentTo"}
xref: Orphanet:645202 {source="MONDO:equivalentTo"}
xref: SCTID:76916001 {source="MONDO:equivalentTo"}
xref: UMLS:C0080174 {source="MEDGEN:36380", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008449 {source="DOID:0080073", source="MESH:D016136", source="NCIT:C101044"} ! spina bifida
property_value: IAO:0000589 "spina bifida occulta (disease)" xsd:string

[Term]
id: MONDO:0000860
name: obsolete neural tube defect
is_obsolete: true
replaced_by: MONDO:0018075

[Term]
id: MONDO:0000861
name: obsolete tubular aggregate myopathy
is_obsolete: true
replaced_by: MONDO:0008051

[Term]
id: MONDO:0000862
name: obsolete reducing body myopathy
is_obsolete: true
replaced_by: MONDO:0019948

[Term]
id: MONDO:0000863
name: myopathy, lactic acidosis, and sideroblastic anemia
def: "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy." [Orphanet:2598]
subset: gard_rare {source="GARD:3885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2598"}
subset: orphanet_rare {source="Orphanet:2598"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:0010892]
synonym: "MLASA" EXACT ABBREVIATION [Orphanet:2598]
synonym: "MSA" EXACT ABBREVIATION [Orphanet:2598]
synonym: "myopathy with lactic acidosis and sideroblastic anaemia" RELATED OMO:0003005 []
synonym: "myopathy with lactic acidosis and sideroblastic anemia" RELATED [GARD:0003885]
synonym: "myopathy, lactic acidosis and sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "myopathy, lactic acidosis and sideroblastic anemia" EXACT [Orphanet:2598]
synonym: "myopathy, lactic acidosis, and siderblastic anaemia" EXACT OMO:0003005 []
synonym: "myopathy, lactic acidosis, and siderblastic anemia" EXACT [OMIMPS:600462]
synonym: "sideroblastic anaemia and mitochondrial myopathy" RELATED OMO:0003005 []
synonym: "sideroblastic anemia and mitochondrial myopathy" RELATED [GARD:0003885]
xref: DOID:0080099 {source="MONDO:equivalentTo"}
xref: GARD:3885 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:2598/attributed", source="Orphanet:2598/ntbt", source="Orphanet:2598"}
xref: MEDGEN:373888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536101 {source="Orphanet:2598", source="MONDO:equivalentTo", source="Orphanet:2598/e"}
xref: OMIMPS:600462 {source="MONDO:equivalentTo"}
xref: Orphanet:2598 {source="OMIM:600462", source="MONDO:equivalentTo"}
xref: SCTID:724138007 {source="MONDO:equivalentTo"}
xref: UMLS:C1838103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373888"}
is_a: MONDO:0005336 {source="DOID:0080099"} ! myopathy
is_a: MONDO:0009637 {source="MESH:C536101/inferred", source="Orphanet:2598"} ! inborn mitochondrial myopathy
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020099 {source="Orphanet:2598"} ! inherited sideroblastic anemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600462"} ! inherited

[Term]
id: MONDO:0000864
name: obsolete congenital myopathy
is_obsolete: true
replaced_by: MONDO:0019952

[Term]
id: MONDO:0000865
name: obsolete congenital fiber-type disproportion
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2534" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009711

[Term]
id: MONDO:0000866
name: hereditary myoglobinuria
comment: TODO: cede to HPO; Reason of obsoletion: is a phenotype and not a disease - MONDO:excludePhenotype. Term to consider: -HP:0002913
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myoglobinurias" RELATED [MESH:D009212]
xref: DOID:0080108 {source="MONDO:equivalentTo"}
xref: HP:0002913 {source="MONDO:otherHierarchy"}
xref: ICD10CM:R82.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:44557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009212 {source="MONDO:equivalentTo"}
xref: NCIT:C114705 {source="MONDO:equivalentTo"}
xref: UMLS:C0027080 {source="MEDGEN:44557", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:0080108"} ! myopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7483" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0000867
name: obsolete multiple pterygium syndrome
is_obsolete: true
replaced_by: MONDO:0017415

[Term]
id: MONDO:0000868
name: obsolete mitochondrial DNA depletion syndrome 6
synonym: "mitochondrial DNA depletion syndrome type 6" EXACT [DOID:0080125, MONDORULE:1]
synonym: "MTDPS6" EXACT ABBREVIATION []
is_obsolete: true
consider: MONDO:0009747

[Term]
id: MONDO:0000869
name: obsolete congenital fibrosis of the extraocular muscles
is_obsolete: true
replaced_by: MONDO:0007614

[Term]
id: MONDO:0000870
name: childhood acute lymphoblastic leukemia
def: "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias." [NCIT:C3168]
subset: gard_rare {source="GARD:9240", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 []
synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C3168]
synonym: "childhood acute lymphoblastic leukemia" EXACT [NCIT:C3168]
synonym: "childhood acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "childhood acute lymphocytic leukemia" EXACT [DOID:0080144, NCIT:C3168]
synonym: "childhood acute lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "childhood acute lymphogenous leukemia" EXACT [NCIT:C3168]
synonym: "childhood acute lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "childhood acute lymphoid leukemia" EXACT [NCIT:C3168]
synonym: "childhood ALL" EXACT [NCIT:C3168]
synonym: "childhood precursor lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "childhood precursor lymphoblastic leukemia" EXACT [NCIT:C3168]
synonym: "paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "paediatric acute lymphocytic leukaemia (ALL)" EXACT OMO:0003005 []
synonym: "paediatric acute lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "paediatric acute lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "paediatric ALL" EXACT OMO:0003005 []
synonym: "pediatric acute lymphoblastic leukemia" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphocytic leukemia" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphocytic leukemia (ALL)" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphogenous leukemia" EXACT [NCIT:C3168]
synonym: "pediatric acute lymphoid leukemia" EXACT [NCIT:C3168]
synonym: "pediatric ALL" EXACT [NCIT:C3168]
xref: DOID:0080144 {source="MONDO:equivalentTo"}
xref: GARD:9240 {source="MONDO:GARD"}
xref: MEDGEN:44122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3168 {source="DOID:0080144", source="MONDO:equivalentTo"}
xref: Orphanet:513 {source="GARD:0009240"}
xref: UMLS:C0023452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44122"}
is_a: MONDO:0004355 {source="MONDO:Redundant", source="NCIT:C3168"} ! childhood leukemia
is_a: MONDO:0004967 {source="DOID:0080144", source="MONDO:Redundant", source="NCIT:C3168"} ! acute lymphoblastic leukemia
intersection_of: MONDO:0004967 ! acute lymphoblastic leukemia
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia" xsd:anyURI {source="GARD:0009240"}

[Term]
id: MONDO:0000871
name: T-cell childhood acute lymphocytic leukemia
def: "An acute lymphoblastic leukemia of T-cell origin occurring in children." [NCIT:C7953]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "childhood precursor T-lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "childhood T acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "childhood T acute lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "childhood T-ALL" EXACT [NCIT:C7953]
synonym: "childhood T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "childhood T-cell acute lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "T acute lymphoblastic leukaemia" BROAD OMO:0003005 []
synonym: "T acute lymphoblastic leukemia" BROAD [NCIT:C7953]
synonym: "T-cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "T-cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C7953]
synonym: "T-cell childhood ALL" EXACT [NCIT:C7953]
synonym: "T-cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "T-cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "T-cell paediatric ALL" EXACT OMO:0003005 []
synonym: "T-cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C7953]
synonym: "T-cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C7953]
synonym: "T-cell pediatric ALL" EXACT [NCIT:C7953]
xref: DOID:0080145 {source="MONDO:equivalentTo"}
xref: EFO:1001947 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:75996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7953 {source="DOID:0080145", source="MONDO:equivalentTo"}
xref: UMLS:C0279583 {source="MEDGEN:75996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000870 {source="DOID:0080145", source="MONDO:Redundant", source="NCIT:C7953"} ! childhood acute lymphoblastic leukemia
is_a: MONDO:0004403 {source="NCIT:C7953"} ! childhood precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0004963 {source="EFO:1001947", source="NCIT:C7953"} ! T-cell acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000872
name: B-cell childhood acute lymphoblastic leukemia
def: "An acute B-lymphoblastic leukemia occurring in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 []
synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9140]
synonym: "B cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "B cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C9140]
synonym: "B cell childhood acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B cell childhood acute lymphocytic leukemia" EXACT [NCIT:C9140]
synonym: "B cell childhood ALL" EXACT [NCIT:C9140]
synonym: "B cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "B cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B cell paediatric ALL" EXACT OMO:0003005 []
synonym: "B cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C9140]
synonym: "B cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C9140]
synonym: "B cell pediatric ALL" EXACT [NCIT:C9140]
synonym: "B-cell childhood acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C9140]
synonym: "B-cell childhood acute lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "B-cell childhood acute lymphogenous leukemia" EXACT [NCIT:C9140]
synonym: "B-cell childhood acute lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "B-cell childhood acute lymphoid leukemia" EXACT [NCIT:C9140]
synonym: "B-cell childhood ALL" EXACT [NCIT:C9140]
synonym: "B-cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "B-cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B-cell paediatric acute lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "B-cell paediatric acute lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "B-cell paediatric ALL" EXACT OMO:0003005 []
synonym: "B-cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C9140]
synonym: "B-cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C9140]
synonym: "B-cell pediatric acute lymphogenous leukemia" EXACT [NCIT:C9140]
synonym: "B-cell pediatric acute lymphoid leukemia" EXACT [NCIT:C9140]
synonym: "B-cell pediatric ALL" EXACT [NCIT:C9140]
synonym: "childhood B acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "childhood B acute lymphoblastic leukemia" EXACT [NCIT:C9140]
synonym: "childhood B-ALL" EXACT [NCIT:C9140]
synonym: "childhood precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "childhood precursor B-lymphoblastic leukemia" EXACT [NCIT:C9140]
xref: DOID:0080146 {source="MONDO:equivalentTo"}
xref: EFO:1001946 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200002 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9140 {source="MONDO:equivalentTo", source="DOID:0080146"}
xref: UMLS:C0279584 {source="MEDGEN:83526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000870 {source="DOID:0080146", source="NCIT:C9140"} ! childhood acute lymphoblastic leukemia
is_a: MONDO:0020511 {source="NCIT:C9140"} ! precursor B-cell acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000873
name: lymphoblastic lymphoma
def: "A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma." [NCIT:C9360]
subset: gard_rare {source="GARD:3329", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoblastic lymphoma" EXACT [NCIT:C9360]
synonym: "lymphoma, lymphoblastic" RELATED [GARD:0003329]
synonym: "lymphoma, lymphoblastic, malignant" EXACT [NCIT:C9360]
synonym: "precursor cell lymphoblastic lymphoma" EXACT [NCIT:C9360]
synonym: "precursor lymphoblastic lymphoma" EXACT [NCIT:C9360]
xref: DOID:0080147 {source="MONDO:equivalentTo"}
xref: GARD:3329 {source="MONDO:GARD"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9727/3 {source="NCIT:C9360"}
xref: MEDGEN:42541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9360 {source="MONDO:equivalentTo"}
xref: SCTID:109965004 {source="MONDO:equivalentTo"}
xref: UMLS:C0079748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42541"}
is_a: MONDO:0003538 {source="NCIT:C9360"} ! precursor lymphoblastic lymphoma/leukemia
is_a: MONDO:0005062 {source="DOID:0080147", source="MONDO:Redundant", source="NCIT:C9360/inferred"} ! lymphoma
is_a: MONDO:0018908 {source="NCIT:C9360"} ! non-Hodgkin lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma" xsd:anyURI {source="GARD:0003329"}

[Term]
id: MONDO:0000874
name: T-cell childhood lymphoblastic lymphoma
def: "A T lymphoblastic lymphoma that occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood precursor T-lymphoblastic lymphoma" EXACT [NCIT:C7210]
synonym: "childhood T lymphoblastic lymphoma" EXACT [DOID:0080148, NCIT:C7210]
synonym: "T lymphoblastic lymphoma" EXACT [NCIT:C7210]
xref: DOID:0080148 {source="MONDO:equivalentTo"}
xref: MEDGEN:232068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7210 {source="MONDO:equivalentTo", source="DOID:0080148"}
xref: UMLS:C1332998 {source="MONDO:equivalentTo", source="MEDGEN:232068", source="MONDO:MEDGEN"}
is_a: MONDO:0000873 {source="DOID:0080148", source="NCIT:C7210/inferred"} ! lymphoblastic lymphoma
is_a: MONDO:0004403 {source="NCIT:C7210"} ! childhood precursor T-lymphoblastic lymphoma/leukemia

[Term]
id: MONDO:0000875
name: adult acute monocytic leukemia
def: "A acute monocytic leukemia that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute monocytic leukaemia" BROAD OMO:0003005 []
synonym: "acute monocytic leukaemia of adults" EXACT OMO:0003005 []
synonym: "acute monocytic leukemia" BROAD [NCIT:C8263]
synonym: "acute monocytic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "adult acute differentiated monocytic leukaemia (M5b)" EXACT OMO:0003005 []
synonym: "adult acute differentiated monocytic leukemia (M5b)" EXACT [NCIT:C8263]
synonym: "adult acute monocytic leukemia" EXACT [NCIT:C8263]
synonym: "M5b adult acute differentiated monocytic leukaemia" EXACT OMO:0003005 []
synonym: "M5b adult acute differentiated monocytic leukemia" EXACT [NCIT:C8263]
synonym: "M5b adult acute leukaemia" EXACT OMO:0003005 []
synonym: "M5b adult acute leukemia" EXACT [NCIT:C8263]
xref: DOID:0080149 {source="MONDO:equivalentTo"}
xref: EFO:1001933 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:128856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200008 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200009 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8263 {source="MONDO:equivalentTo", source="DOID:0080149"}
xref: UMLS:C0280634 {source="MEDGEN:128856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007896 {source="DOID:0080149", source="MONDO:Redundant", source="NCIT:C8263"} ! acute monocytic leukemia
intersection_of: MONDO:0007896 ! acute monocytic leukemia
intersection_of: has_characteristic HP:0003581 ! Adult onset
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000876
name: obsolete herpes simplex virus keratitis
is_obsolete: true
replaced_by: MONDO:0015288

[Term]
id: MONDO:0000877
name: obsolete Cryptococcal meningitis
is_obsolete: true
replaced_by: MONDO:0005723

[Term]
id: MONDO:0000878
name: cytomegalovirus retinitis
def: "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness." [MESH:D017726]
subset: gard_rare {source="GARD:9531", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMV retinitis" EXACT [DOID:0080160]
synonym: "Cytomegaloviral Retinitis" EXACT [NCIT:C50521]
synonym: "Cytomegalovirus caused retinitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cytomegalovirus retinitis" EXACT []
synonym: "cytomegalovirus retinitis" EXACT []
synonym: "Retinitis, Cytomegaloviral" EXACT [NCIT:C50521]
xref: DOID:0080160 {source="MONDO:equivalentTo"}
xref: EFO:1001302 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9531 {source="MONDO:GARD"}
xref: MEDGEN:61532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017726 {source="MONDO:equivalentTo", source="DOID:0080160"}
xref: NCIT:C50521 {source="MONDO:equivalentTo"}
xref: SCTID:22455005 {source="MONDO:equivalentTo"}
xref: UMLS:C0206178 {source="MEDGEN:61532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002708 {source="DOID:0080160", source="MESH:D017726", source="MONDO:Redundant", source="NCIT:C50521"} ! retinitis
is_a: MONDO:0005132 {source="MESH:D017726", source="MONDO:Redundant", source="NCIT:C50521"} ! cytomegalovirus infection
intersection_of: MONDO:0002708 ! retinitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10358 ! disease has primary infectious agent Cytomegalovirus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis" xsd:anyURI {source="GARD:0009531"}

[Term]
id: MONDO:0000879
name: cutaneous candidiasis
def: "Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)" [MESH:D002179]
subset: otar {source="MONDO:OTAR"}
synonym: "zone of skin candidiasis" EXACT [MONDO:patterns/location]
xref: DOID:0080161 {source="MONDO:equivalentTo"}
xref: MEDGEN:2427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002179 {source="MONDO:equivalentTo", source="DOID:0080161"}
xref: UMLS:C0006846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2427"}
is_a: MONDO:0002026 {source="DOID:0080161", source="MESH:D002179", source="MONDO:Redundant"} ! candidiasis
is_a: MONDO:0005093 {source="MESH:D002179/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! skin disorder
intersection_of: MONDO:0002026 ! candidiasis
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0000880
name: obsolete lupus nephritis
is_obsolete: true
replaced_by: MONDO:0005556

[Term]
id: MONDO:0000881
name: obsolete myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3845" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015688

[Term]
id: MONDO:0000882
name: obsolete myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3845" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015689

[Term]
id: MONDO:0000883
name: obsolete myeloid neoplasms associated with PDGFRB rearrangement
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3845" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015690

[Term]
id: MONDO:0000884
name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
comment: Editor note: check relation to MONDO:0007844; Reason of obsoletion: duplicate. This will be merged with MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: DOID:0080167 {source="MONDO:equivalentTo"}
xref: NCIT:C84277 {source="DOID:0080167", source="MONDO:directSiblingOf"}
is_a: MONDO:0015688 {source="DOID:0080167"} ! myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7614" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0000885
name: obsolete cloacal exstrophy
is_obsolete: true
replaced_by: MONDO:0009774

[Term]
id: MONDO:0000886
name: obsolete meningococcal meningitis
is_obsolete: true
replaced_by: MONDO:0006852

[Term]
id: MONDO:0000887
name: obsolete hepatic veno-occlusive disease
is_obsolete: true
replaced_by: MONDO:0019514

[Term]
id: MONDO:0000888
name: gastrointestinal mucositis
def: "Inflammation of the mucous membranes lining the gastrointestinal tract." [NCIT:C3853]
synonym: "gastrointestinal system mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "gastrointestinal system mucosaitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of gastrointestinal system mucosa" EXACT []
synonym: "mucositis" RELATED [DOID:0080178]
xref: DOID:0080178 {source="MONDO:equivalentTo"}
xref: ICD9:538 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:636691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052016 {source="DOID:0080178"}
xref: NCIT:C3853 {source="MONDO:equivalentTo"}
xref: SCTID:95518006 {source="MONDO:equivalentTo"}
xref: UMLS:C0521585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:636691"}
is_a: MONDO:0004335 {source="DOID:0080178", source="MESH:D052016/inferred", source="MONDO:Redundant"} ! digestive system disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C3853/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0004786 ! gastrointestinal system mucosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0000889
name: haemophilus meningitis
def: "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." [MESH:D008583]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Haemophilus influenzae bacterial meningitis" EXACT [EFO:1000955]
synonym: "Haemophilus influenzae caused bacterial meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:0080179 {source="MONDO:equivalentTo"}
xref: DOID:10803 {source="MONDO:obsolete", source="EFO:1000955"}
xref: EFO:1000955 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G00.0 {source="DOID:0080179"}
xref: ICD9:320.0 {source="MONDO:equivalentTo", source="DOID:0080179", source="MONDO:i2s"}
xref: MedDRA:10018953 {source="EFO:1000955"}
xref: MEDGEN:7535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008583 {source="MONDO:equivalentTo", source="DOID:0080179", source="EFO:1000955"}
xref: SCTID:192643004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:5900006 {source="MONDO:equivalentTo"}
xref: UMLS:C0025292 {source="MEDGEN:7535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="MESH:D008583/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0006670 {source="DOID:0080179", source="MESH:D008583", source="MONDO:Redundant"} ! bacterial meningitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0021108 ! meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:727 ! Haemophilus influenzae

[Term]
id: MONDO:0000890
name: Zika virus congenital syndrome
def: "A congenital birth syndrome that arises from materal Zika infection." [https://www.cdc.gov/pregnancy/zika/testing-follow-up/zika-syndrome-birth-defects.html]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital Zika syndrome" EXACT [MESH:1622152]
synonym: "congenital Zika virus infection" EXACT [MESH:1622152]
synonym: "ZIKV congenital infection" EXACT [DOID:0080180]
xref: DOID:0080180 {source="MONDO:equivalentTo"}
xref: MEDGEN:1622152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:1622152 {source="MONDO:equivalentObsolete"}
xref: MESH:D000071243 {source="MONDO:relatedTo"}
xref: UMLS:C4546023 {source="MEDGEN:1622152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0080180"} ! syndromic disease
is_a: MONDO:0005108 {source="https://github.com/monarch-initiative/mondo/issues/1937"} ! viral infectious disease
is_a: MONDO:0100120 {source="https://github.com/monarch-initiative/mondo/issues/1937"} ! vector-borne disease
relationship: disease_arises_from_feature MONDO:0018661 {source="https://orcid.org/0000-0001-5208-3432"} ! Zika virus infectious disease
relationship: disease_has_feature HP:0000252 {source="PMID:27695855"} ! Microcephaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital

[Term]
id: MONDO:0000891
name: mixed fibrolamellar hepatocellular carcinoma
def: "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components." [DOID:0080182, https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080182 {source="MONDO:equivalentTo"}
is_a: MONDO:0006210 {source="DOID:0080182"} ! fibrolamellar hepatocellular carcinoma

[Term]
id: MONDO:0000892
name: colon medullary carcinoma
def: "A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." [NCIT:C60641]
subset: otar {source="MONDO:OTAR"}
synonym: "colon medullary carcinoma" EXACT [NCIT:C60641]
synonym: "medullary carcinoma of the colon" RELATED [ONCOTREE:CMC]
synonym: "medullary colon carcinoma" RELATED [DOID:0080183]
xref: DOID:0080183 {source="MONDO:equivalentTo"}
xref: MEDGEN:363630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C60641 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:CMC {source="MONDO:equivalentTo"}
xref: UMLS:C1880119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:363630"}
is_a: MONDO:0002271 {source="NCIT:C60641"} ! colon adenocarcinoma
is_a: MONDO:0020794 {source="NCIT:C60641"} ! colorectal medullary carcinoma
intersection_of: MONDO:0020794 ! colorectal medullary carcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0000893
name: mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma
def: "A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells." [NCIT:C7270]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "indeterminate bronchioloalveolar carcinoma" EXACT [DOID:0080184]
synonym: "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma" EXACT [DOID:0080184]
synonym: "mixed mucinous and non-mucinous bronchioloalveolar carcinoma" EXACT [NCIT:C7270]
synonym: "mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma" EXACT [NCIT:C7270]
synonym: "mixed mucinous and non-mucinous bronchoalveolar lung carcinoma" EXACT [NCIT:C7270]
xref: DOID:0080184 {source="MONDO:equivalentTo"}
xref: ICDO:8254/3 {source="NCIT:C7270"}
xref: MEDGEN:220410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7270 {source="MONDO:equivalentTo"}
xref: UMLS:C1266036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220410"}
is_a: MONDO:0004991 {source="DOID:0080184"} ! minimally invasive lung adenocarcinoma

[Term]
id: MONDO:0000894
name: mucinous bronchioloalveolar adenocarcinoma
def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumor cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." [DOID:0080185, PMID:16463270]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080185 {source="MONDO:equivalentTo"}
xref: MEDGEN:1627584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2200125 {source="MEDGEN:1627584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004991 {source="DOID:0080185", source="MONDO:Entailed", source="MONDO:Redundant"} ! minimally invasive lung adenocarcinoma
is_a: MONDO:0024338 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! mucinous neoplasm
intersection_of: MONDO:0004991 ! minimally invasive lung adenocarcinoma
intersection_of: MONDO:0024338 ! mucinous neoplasm

[Term]
id: MONDO:0000895
name: nonmucinous bronchioloalveolar adenocarcinoma
def: "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation." [DOID:0080186, PMID:17616987]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080186 {source="MONDO:equivalentTo"}
xref: MEDGEN:266089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1266034 {source="MEDGEN:266089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004991 {source="DOID:0080186"} ! minimally invasive lung adenocarcinoma

[Term]
id: MONDO:0000896
name: obsolete chronic neutrophilic leukemia
is_obsolete: true
replaced_by: MONDO:0006148

[Term]
id: MONDO:0000897
name: obsolete chronic myelomonocytic leukemia
is_obsolete: true
replaced_by: MONDO:0020311

[Term]
id: MONDO:0000898
name: malignant hemangioma
def: "A malignant form of hemangioma." [MONDO:patterns/malignant]
comment: Editor note: hemangiomas currently classified as benign. Consider obsoleting these
synonym: "hemangioma, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:0080189 {source="MONDO:equivalentTo"}
xref: MEDGEN:634243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0474836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:634243"}
is_a: MONDO:0006500 {source="https://orcid.org/0000-0002-6601-2165"} ! hemangioma

[Term]
id: MONDO:0000899
name: obsolete malignant epithelioid hemangioendothelioma
is_obsolete: true
replaced_by: MONDO:0015523

[Term]
id: MONDO:0000900
name: obsolete PTEN hamartoma tumor syndrome
is_obsolete: true
replaced_by: MONDO:0017623

[Term]
id: MONDO:0000901
name: relapsed/refractory diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission." [DOID:0080192, PMID:22160081]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080192 {source="MONDO:equivalentTo"}
xref: MEDGEN:208957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0855112 {source="MONDO:equivalentTo", source="MEDGEN:208957", source="MONDO:MEDGEN"}
is_a: MONDO:0018905 {source="DOID:0080192"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0000902
name: agenesis of the corpus callosum with peripheral neuropathy
def: "Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait." [Orphanet:1496]
subset: gard_rare {source="GARD:1537", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1496"}
subset: orphanet_rare {source="Orphanet:1496"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACCPN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218000]
synonym: "agenesis of corpus callosum with neuronopathy" RELATED [GARD:0001537]
synonym: "agenesis of corpus callosum with peripheral neuropathy" RELATED [GARD:0001537]
synonym: "agenesis of corpus callosum with polyneuropathy" RELATED [GARD:0001537]
synonym: "agenesis of the corpus callosum with peripheral neuropathy" EXACT [DOID:0060600, MONDO:Lexical, OMIM:218000]
synonym: "Andermann syndrome" EXACT [DOID:0060600, DOID:0090003, OMIM:218000, Orphanet:1496]
synonym: "Charlevoix disease" EXACT [DOID:0060600, DOID:0090003, OMIM:218000, Orphanet:1496]
synonym: "corpus callosum agenesis neuronopathy" RELATED [GARD:0001537]
synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT [DOID:0060600, DOID:0090003]
synonym: "corpus callosum, agenesis of, with neuronopathy" RELATED [OMIM:218000]
synonym: "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" EXACT [MONDO:0009023]
synonym: "HMSN/ACC" RELATED [GARD:0001537]
synonym: "peripheral neuropathy associated with agenesis of the corpus callosum" EXACT [DOID:0060600]
synonym: "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" RELATED [OMIM:218000]
xref: DOID:0060600 {source="MONDO:equivalentObsolete"}
xref: DOID:0090003 {source="MONDO:equivalentTo"}
xref: GARD:1537 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:1496/attributed", source="Orphanet:1496/ntbt", source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003"}
xref: MEDGEN:162893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536446 {source="Orphanet:1496", source="DOID:0060600", source="MONDO:equivalentTo", source="Orphanet:1496/e"}
xref: OMIM:218000 {source="Orphanet:1496", source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="Orphanet:1496/e"}
xref: Orphanet:1496 {source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="OMIM:218000"}
xref: SCTID:702439002 {source="MONDO:equivalentTo"}
xref: UMLS:C0795950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162893"}
is_a: MONDO:0005559 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10914 {source="MONDO:mim2gene_medgen"} ! SLC12A6

[Term]
id: MONDO:0000903
name: myoclonus-dystonia syndrome
def: "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." [Orphanet:36899]
subset: gard_rare {source="GARD:7139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36899"}
subset: orphanet_rare {source="Orphanet:36899"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alcohol-responsive dystonia" RELATED [MESH:C536096]
synonym: "dystonia 11" RELATED [GARD:0007139, MESH:C536096]
synonym: "dystonia 11, myoclonic" RELATED [MESH:C536096]
synonym: "dystonia with myoclonus" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "dystonia, alcohol responsive" RELATED [GARD:0007139]
synonym: "dystonia, alcohol-responsive" RELATED [MESH:C536096]
synonym: "dystonia-11, myoclonic" RELATED [GARD:0007139]
synonym: "DYT-SGCE" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT11" RELATED ABBREVIATION [MESH:C536096]
synonym: "Hereditary essential myoclonus" RELATED [MESH:C536096]
synonym: "hereditary essential myoclonus" EXACT [Orphanet:36899]
synonym: "myoclonic dystonia" EXACT [DOID:0090033, MESH:C536096]
synonym: "myoclonus, hereditary essential" RELATED [MESH:C536096]
synonym: "myoclonus-Dystonia" RELATED [MESH:C536096]
synonym: "myoclonus-dystonia" RELATED [GARD:0007139]
synonym: "myoclonus-dystonia syndrome" EXACT [MESH:C536096]
xref: DOID:0090033 {source="MONDO:equivalentTo"}
xref: GARD:7139 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:36899/attributed", source="Orphanet:36899/ntbt"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C536096 {source="MONDO:equivalentTo", source="Orphanet:36899/e"}
xref: NANDO:1200522 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:36899 {source="DOID:0090034", source="MONDO:equivalentTo", source="OMIM:159900"}
xref: SCTID:439732004 {source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="DOID:0090033", source="MESH:C536096"} ! dystonic disorder
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0000904
name: complex cortical dysplasia with other brain malformations
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "CDCBM" EXACT ABBREVIATION [DOID:0090131]
synonym: "complex cortical dysplasia with other brain malformations" EXACT CLINGEN_LABEL []
synonym: "cortical dysplasia, complex, with other brain malformations" EXACT [OMIMPS:614039]
xref: DOID:0090131 {source="MONDO:equivalentTo"}
xref: OMIMPS:614039 {source="DOID:0090131", source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:0090131"} ! brain disorder
relationship: disease_has_basis_in_disruption_of GO:0001764 ! neuron migration
relationship: disease_has_basis_in_disruption_of GO:0007411 ! axon guidance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614039"} ! inherited

[Term]
id: MONDO:0000905
name: obsolete cortisone reductase deficiency
is_obsolete: true
replaced_by: MONDO:0000193

[Term]
id: MONDO:0000906
name: obsolete Alzheimer disease 5
synonym: "obsolete Alzheimer's disease 5" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0011194

[Term]
id: MONDO:0000907
name: obsolete amelogenesis imperfecta type 1C
is_obsolete: true
replaced_by: MONDO:0008770

[Term]
id: MONDO:0000908
name: arrhythmogenic right ventricular dysplasia 13
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT [DOID:0110084]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia type 13" EXACT [DOID:0110084, MONDORULE:2]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 13" EXACT [MONDO:0014279, MONDO:Lexical, OMIM:615616]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 13" EXACT [MONDORULE:2, OMIM:615616]
synonym: "ARVC13" EXACT ABBREVIATION [DOID:0110084]
synonym: "ARVD13" EXACT ABBREVIATION [DOID:0110084, MONDO:Lexical, OMIM:615616]
synonym: "CTNNA3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial arrhythmogenic right ventricular dysplasia 13" EXACT [DOID:0110084]
xref: DOID:0110084 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110084"}
xref: MEDGEN:816468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615616 {source="MONDO:equivalentTo"}
xref: Orphanet:217656 {source="OMIM:615616"}
xref: UMLS:C3810138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816468"}
is_a: MONDO:0016342 {source="DOID:0110084", source="MONDO:Redundant", source="OMIM:615616", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2511 ! CTNNA3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2511 {source="MONDO:mim2gene_medgen"} ! CTNNA3

[Term]
id: MONDO:0000909
name: Bartter disease type 4B
def: "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes." [DOID:0110146, PMID:15044642]
subset: gard_rare {source="GARD:15612", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BARTS4B" EXACT ABBREVIATION [DOID:0110146]
synonym: "Bartter disease type 4B" EXACT CLINGEN_LABEL []
synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:613090]
synonym: "Bartter syndrome, type 4B" EXACT [MONDO:0013126, OMIM:613090]
synonym: "Bartter syndrome, type 4b, digenic" EXACT [DOID:0110146]
synonym: "Bartter syndrome, type 4B, neonatal, with sensorineural deafness" RELATED [OMIM:613090]
synonym: "neonatal Bartter syndrome type 4B with sensorineural deafness" EXACT [DOID:0110146]
xref: DOID:0110146 {source="MONDO:equivalentTo"}
xref: GARD:15612 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="DOID:0110146"}
xref: MEDGEN:934772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613090 {source="MONDO:equivalentTo", source="DOID:0110146"}
xref: Orphanet:112 {source="OMIM:613090"}
xref: Orphanet:89938 {source="OMIM:613090"}
xref: UMLS:C4310805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934772"}
is_a: MONDO:0015231 {source="DOID:0110146", source="MONDO:0000909/inferred", source="MONDO:Redundant", source="OMIM:613090"} ! Bartter syndrome
is_a: MONDO:0019524 {source="Orphanet:89938", source="https://orcid.org/0000-0001-5208-3432"} ! Bartter syndrome type 4

[Term]
id: MONDO:0000910
name: retinitis pigmentosa 6
def: "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2." [DOID:0110413, PMID:2300556]
subset: gard_rare {source="GARD:10377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 6" EXACT [MONDO:Lexical, OMIM:312612]
synonym: "retinitis pigmentosa type 6" EXACT [DOID:0110413, MONDORULE:1]
synonym: "retinitis pigmentosa, X-linked recessive, 6" RELATED [OMIM:312612]
synonym: "RP 6" RELATED [GARD:0010377]
synonym: "RP6" EXACT ABBREVIATION [DOID:0110413, MONDO:0010724, MONDO:Lexical, OMIM:312612]
xref: DOID:0110413 {source="MONDO:equivalentTo"}
xref: GARD:10377 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110413", source="MONDO:relatedTo"}
xref: MEDGEN:333305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564065 {source="MONDO:equivalentTo"}
xref: OMIM:312612 {source="DOID:0110413", source="MONDO:equivalentTo"}
xref: UMLS:C1839368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333305"}
is_a: MONDO:0019200 {source="DC-OMIM:312612", source="DOID:0110413", source="MESH:C564065", source="OMIM:312612"} ! retinitis pigmentosa
relationship: has_characteristic HP:0001419 ! X-linked recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10377/retinitis-pigmentosa-6" xsd:anyURI {source="GARD:0010377"}

[Term]
id: MONDO:0000911
name: obsolete dilated cardiomyopathy 1T
def: "OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene." [MONDO:patterns/disease_series_by_gene]
comment: OMIM has integrated the concept into another record, as CMD1T was thought to be caused by mutations in TMPO. Those variants are too frequent and so CMD1T no longer exists.
synonym: "cardiomyopathy, dilated, 1T" EXACT [MONDO:0013399, MONDO:Lexical, OMIM:613740]
synonym: "cardiomyopathy, dilated, type 1T" EXACT [MONDORULE:4, OMIM:613740]
synonym: "CMD1T" EXACT ABBREVIATION [DOID:0110452, MONDO:Lexical, OMIM:613740]
synonym: "dilated cardiomyopathy type 1T" EXACT [DOID:0110452, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TMPO" EXACT [MONDO:design_pattern]
synonym: "moved to 115200" RELATED [OMIM:613740]
synonym: "TMPO familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110452 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C566052 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:613740 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1675" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0000912
name: autosomal recessive nonsyndromic hearing loss 5
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12." [DOID:0110507, PMID:8944017]
subset: gard_rare {source="GARD:22585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 5" NARROW [DOID:0110507]
synonym: "autosomal recessive nonsyndromic deafness 5" NARROW [OMIM:600792]
synonym: "autosomal recessive nonsyndromic deafness type 5" NARROW [DOID:0110507, MONDORULE:1]
synonym: "deafness, autosomal recessive 5" NARROW [MONDO:Lexical, OMIM:600792, OMIM:genemap2]
synonym: "DFNB5" NARROW ABBREVIATION [DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792]
synonym: "neurosensory nonsyndromic recessive deafness 5" NARROW [OMIM:600792]
xref: DOID:0110507 {source="MONDO:equivalentTo"}
xref: GARD:22585 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110507"}
xref: MEDGEN:331485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563444 {source="MONDO:equivalentTo"}
xref: OMIM:600792 {source="DOID:0110507", source="MONDO:equivalentTo"}
xref: UMLS:C1833319 {source="MEDGEN:331485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:600792", source="DOID:0110507", source="OMIM:600792"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0000913
name: hereditary spherocytosis type 2
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16149", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary spherocytosis 2" EXACT [DOID:0110917]
synonym: "hereditary spherocytosis caused by mutation in SPTB" EXACT [MONDO:design_pattern]
synonym: "hereditary spherocytosis type 2" EXACT [MONDO:0014721]
synonym: "HS2" EXACT ABBREVIATION [DOID:0110917]
synonym: "SPH2" EXACT ABBREVIATION [DOID:0110917, OMIM:616649]
synonym: "spherocytosis, hereditary, 2" RELATED [OMIM:616649]
synonym: "spherocytosis, type 2" EXACT [OMIM:616649]
synonym: "SPTB hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110917 {source="MONDO:equivalentTo"}
xref: GARD:16149 {source="MONDO:GARD"}
xref: MEDGEN:436112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616649 {source="MONDO:equivalentTo"}
xref: UMLS:C2674219 {source="MEDGEN:436112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019350 {source="DOID:0110917", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
intersection_of: MONDO:0019350 ! hereditary spherocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11274 ! SPTB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11274 {source="MONDO:mim2gene_medgen"} ! SPTB

[Term]
id: MONDO:0000914
name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
def: "A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13." [DOID:0111035, PMID:10476042, PMID:8878478]
subset: gard_rare {source="GARD:1049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:883"}
subset: ordo_disorder {source="Orphanet:136"}
subset: orphanet_rare {source="Orphanet:136"}
subset: rare
synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT [DOID:0111035]
synonym: "CADASIL" EXACT ABBREVIATION [NORD:883, OMIM:125310, Orphanet:136]
synonym: "CADASIL 1" EXACT [OMIM:125310]
synonym: "CADASIL syndrome" EXACT [NCIT:C84606]
synonym: "CADASIL type 1" EXACT [DOID:0111035, MONDORULE:1]
synonym: "CADASIL1" EXACT ABBREVIATION [OMIM:125310]
synonym: "CASIL" EXACT ABBREVIATION [OMIM:125310]
synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" RELATED [GARD:0001049]
synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" EXACT [OMIM:125310, OMIM:genemap2]
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" EXACT CLINGEN_LABEL [OMIM:125310]
synonym: "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" BROAD [DOID:13945, Orphanet:136]
synonym: "dementia, hereditary multi-infarct type" EXACT [OMIM:125310]
synonym: "familial vascular leukoencephalopathy" RELATED [GARD:0001049]
synonym: "hereditary multi-infarct dementia" EXACT [DOID:13945, Orphanet:136]
xref: DOID:0111035 {source="MONDO:equivalentTo"}
xref: GARD:1049 {source="MONDO:GARD"}
xref: ICD10CM:F01.1 {source="Orphanet:136", source="Orphanet:136/attributed", source="Orphanet:136/ntbt", source="DOID:0111035"}
xref: icd11.foundation:1621899838 {source="Orphanet:136", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10065551 {source="Orphanet:136", source="Orphanet:136/e"}
xref: MEDGEN:1634330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046589 {source="Orphanet:136", source="DOID:13945", source="MONDO:equivalentTo", source="Orphanet:136/e"}
xref: NCIT:C84606 {source="DOID:13945", source="MONDO:equivalentTo"}
xref: NORD:883 {source="MONDO:NORD"}
xref: OMIM:125310 {source="Orphanet:136", source="MONDO:equivalentTo", source="Orphanet:136/e", source="DOID:0111035"}
xref: Orphanet:136 {source="OMIM:125310", source="MONDO:equivalentTo"}
xref: SCTID:390936003 {source="DOID:13945", source="MONDO:equivalentTo"}
xref: UMLS:C4551768 {source="MEDGEN:1634330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007432 {source="DOID:0111035", source="OMIM:125310"} ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
intersection_of: MONDO:0007432 ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 ! NOTCH3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0000915
name: obsolete MONDO:0000915
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007930

[Term]
id: MONDO:0000916
name: intestinal infectious disease
def: "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
synonym: "bacterial enteritis" EXACT [DOID:100]
xref: DOID:100 {source="MONDO:equivalentTo"}
xref: ICD10CM:A00-A09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:100", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:001-009.99 {source="DOID:100"}
xref: ICD9:008.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:511728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:127322007 {source="DOID:100"}
xref: SCTID:186086003 {source="DOID:100"}
xref: SCTID:186171006 {source="DOID:100"}
xref: SCTID:187266003 {source="DOID:100"}
xref: SCTID:266071000 {source="MONDO:equivalentTo", source="DOID:100"}
xref: SCTID:266172005 {source="DOID:100"}
xref: SCTID:266180003 {source="DOID:100"}
xref: UMLS:C0178238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:511728"}
is_a: MONDO:0005020 {source="DOID:100", source="MONDO:Redundant"} ! intestinal disorder
is_a: MONDO:0005550 {source="ICD10CM:A00-A09", source="MONDO:Redundant"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0001242 ! intestinal mucosa

[Term]
id: MONDO:0000917
name: obsolete thyroid lymphoma
is_obsolete: true
replaced_by: MONDO:0019962

[Term]
id: MONDO:0000918
name: endometritis
def: "An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of endometrium" EXACT []
synonym: "uterine infection" EXACT [NCIT:C26764]
xref: DOID:1002 {source="MONDO:equivalentTo"}
xref: EFO:1001312 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:41789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004716 {source="DOID:1002", source="MONDO:equivalentTo"}
xref: NCIT:C26764 {source="DOID:1002", source="MONDO:equivalentTo"}
xref: SCTID:155975003 {source="DOID:1002"}
xref: SCTID:198192000 {source="DOID:1002"}
xref: SCTID:266652001 {source="DOID:1002"}
xref: SCTID:266653006 {source="DOID:1002"}
xref: SCTID:78623009 {source="DOID:1002", source="MONDO:equivalentTo"}
xref: UMLS:C0014179 {source="MEDGEN:41789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000931 {source="DOID:1002", source="MONDO:Redundant", source="NCIT:C26764"} ! endometrial disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C26764/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001295 ! endometrium

[Term]
id: MONDO:0000919
name: ampulla of vater cancer
def: "A primary or metastatic malignant neoplasm involving the ampulla of Vater." [NCIT:C3536]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer]
synonym: "hepatopancreatic ampulla cancer" EXACT [MONDO:patterns/location]
synonym: "malignant ampulla of Vater neoplasm" EXACT [NCIT:C3536]
synonym: "malignant ampulla of Vater tumor" EXACT [NCIT:C3536]
synonym: "malignant ampulla of Vater tumour" EXACT OMO:0003005 []
synonym: "malignant hepatopancreatic ampulla neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ampulla of Vater" EXACT [NCIT:C3536]
synonym: "malignant neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the ampulla of Vater" EXACT [NCIT:C3536]
synonym: "malignant tumor of ampulla of Vater" EXACT [NCIT:C3536]
synonym: "malignant tumor of ampulla of vater" EXACT [DOID:10020]
synonym: "malignant tumor of the ampulla of Vater" EXACT [NCIT:C3536]
synonym: "malignant tumour of ampulla of Vater" EXACT OMO:0003005 []
synonym: "malignant tumour of ampulla of vater" EXACT OMO:0003005 []
synonym: "malignant tumour of the ampulla of Vater" EXACT OMO:0003005 []
xref: DOID:10020 {source="MONDO:equivalentTo"}
xref: ICD10CM:C24.1 {source="DOID:10020"}
xref: ICD9:156.2 {source="DOID:10020"}
xref: MEDGEN:57785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3536 {source="MONDO:equivalentTo", source="DOID:10020"}
xref: SCTID:363417006 {source="MONDO:equivalentTo", source="DOID:10020"}
xref: SCTID:93668007 {source="DOID:10020"}
xref: UMLS:C0153454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57785"}
is_a: MONDO:0000920 {source="DOID:10020", source="MONDO:Redundant"} ! duodenum cancer
is_a: MONDO:0000921 {source="MONDO:Redundant", source="NCIT:C3536"} ! ampulla of vater neoplasm
is_a: MONDO:0002516 {source="DOID:10020/inferred", source="NCIT:C3536"} ! digestive system cancer
is_a: MONDO:0003059 {source="DOID:10020", source="MONDO:Redundant", source="MONDO:indirect"} ! bile duct cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla

[Term]
id: MONDO:0000920
name: duodenum cancer
def: "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C9328]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of duodenum" EXACT [DOID:10021, MONDO:patterns/cancer, NCIT:C4803]
synonym: "duodenal cancer" EXACT [DOID:10021]
synonym: "duodenal neoplasm" BROAD EXCLUDE [DOID:10021]
synonym: "duodenum cancer" EXACT [MONDO:patterns/location]
synonym: "malignant duodenal neoplasm" EXACT [NCIT:C9328]
synonym: "malignant duodenal tumor" EXACT [NCIT:C9328]
synonym: "malignant duodenal tumour" EXACT OMO:0003005 []
synonym: "malignant duodenum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of duodenum" EXACT [MONDO:patterns/cancer, NCIT:C9328]
synonym: "malignant neoplasm of the duodenum" EXACT [NCIT:C9328]
synonym: "malignant tumor of duodenum" EXACT [NCIT:C9328]
synonym: "malignant tumor of the duodenum" EXACT [NCIT:C9328]
synonym: "malignant tumour of duodenum" EXACT OMO:0003005 []
synonym: "malignant tumour of the duodenum" EXACT OMO:0003005 []
xref: DOID:10021 {source="MONDO:equivalentTo"}
xref: ICD10CM:C17.0 {source="DOID:10021"}
xref: ICD9:152.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10021"}
xref: MEDGEN:56301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004379 {source="MONDO:equivalentTo", source="DOID:10021"}
xref: NCIT:C4803 {source="DOID:10021"}
xref: NCIT:C9328 {source="MONDO:equivalentTo", source="DOID:10021"}
xref: SCTID:154555009 {source="DOID:10021"}
xref: SCTID:254570009 {source="DOID:10021"}
xref: SCTID:269615000 {source="DOID:10021"}
xref: SCTID:363403002 {source="MONDO:equivalentTo", source="DOID:10021"}
xref: UMLS:C0153426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56301"}
is_a: MONDO:0000956 {source="DOID:10021", source="MONDO:Redundant", source="NCIT:C9328"} ! small intestine cancer
is_a: MONDO:0002866 {source="MESH:D004379", source="MONDO:Redundant"} ! duodenal disorder
is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C9328"} ! tumor of duodenum
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0000921
name: ampulla of vater neoplasm
def: "A benign or malignant neoplasm involving the ampulla of Vater." [NCIT:C4443]
subset: otar {source="MONDO:OTAR"}
synonym: "ampulla of Vater tumor" EXACT [NCIT:C4443]
synonym: "ampulla of Vater tumour" EXACT OMO:0003005 []
synonym: "AMPULLAOFVATER" RELATED ABBREVIATION [ONCOTREE:AMPULLAOFVATER]
synonym: "hepatopancreatic ampulla neoplasm" EXACT []
synonym: "hepatopancreatic ampulla neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hepatopancreatic ampulla tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "hepatopancreatic ampulla tumour" EXACT OMO:0003005 []
synonym: "neoplasm of ampulla of Vater" EXACT [NCIT:C4443]
synonym: "neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the ampulla of Vater" EXACT [NCIT:C4443]
synonym: "tumor of ampulla of Vater" EXACT [NCIT:C4443]
synonym: "tumor of hepatopancreatic ampulla" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the ampulla of Vater" EXACT [DOID:10022, NCIT:C4443]
synonym: "tumour of ampulla of Vater" EXACT OMO:0003005 []
synonym: "tumour of hepatopancreatic ampulla" EXACT OMO:0003005 []
synonym: "tumour of the ampulla of Vater" EXACT OMO:0003005 []
xref: DOID:10022 {source="MONDO:equivalentTo"}
xref: MEDGEN:138029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C13011 {source="ONCOTREE:AMPULLAOFVATER"}
xref: NCIT:C4443 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10022"}
xref: ONCOTREE:AMPULLAOFVATER {source="MONDO:equivalentTo"}
xref: SCTID:126858004 {source="MONDO:equivalentTo", source="DOID:10022"}
xref: UMLS:C0345916 {source="MONDO:equivalentTo", source="MEDGEN:138029", source="MONDO:MEDGEN"}
is_a: MONDO:0002866 {source="MONDO:Redundant"} ! duodenal disorder
is_a: MONDO:0004251 {source="DOID:10022/inferred", source="MONDO:Redundant"} ! small intestine neoplasm
is_a: MONDO:0021118 {source="DOID:10022/inferred", source="MONDO:Redundant"} ! intestinal neoplasm
is_a: MONDO:0021375 {source="MONDO:Redundant"} ! tumor of duodenum
is_a: MONDO:0021385 {source="MONDO:Redundant"} ! extrahepatic bile duct neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla

[Term]
id: MONDO:0000922
name: pelvic inflammatory disease
def: "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection." [NCIT:C3889]
subset: otar {source="MONDO:OTAR"}
synonym: "disease (PID), pelvic inflammatory" RELATED [NCIT:C3889]
synonym: "inflammatory disease (PID), pelvic" RELATED [NCIT:C3889]
synonym: "pelvic infection" RELATED [NCIT:C3889]
synonym: "pelvic inflammatory disease" EXACT [NCIT:C3889]
synonym: "pelvic inflammatory disease, (PID)" RELATED [NCIT:C3889]
synonym: "PID" EXACT ABBREVIATION [DOID:1003]
synonym: "PID, pelvic inflammatory disease" RELATED [NCIT:C3889]
xref: DOID:1003 {source="MONDO:equivalentTo"}
xref: EFO:1001388 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N70-N77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1003", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:N73.9 {source="DOID:1003"}
xref: ICD9:614-616.99 {source="DOID:1003"}
xref: ICD9:614.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:614.9 {source="DOID:1003", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:66845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000292 {source="DOID:1003", source="MONDO:equivalentTo"}
xref: NCIT:C3889 {source="DOID:1003", source="MONDO:equivalentTo"}
xref: SCTID:155967009 {source="DOID:1003"}
xref: SCTID:155968004 {source="DOID:1003"}
xref: SCTID:155974004 {source="DOID:1003"}
xref: SCTID:155986001 {source="DOID:1003"}
xref: SCTID:198130006 {source="DOID:1003", source="MONDO:equivalentTo"}
xref: SCTID:198131005 {source="DOID:1003"}
xref: SCTID:198178006 {source="DOID:1003"}
xref: SCTID:198244005 {source="DOID:1003"}
xref: SCTID:198570007 {source="DOID:1003"}
xref: SCTID:266584000 {source="DOID:1003"}
xref: SCTID:266648001 {source="DOID:1003"}
xref: SCTID:266651008 {source="DOID:1003"}
xref: SCTID:37518008 {source="DOID:1003"}
xref: UMLS:C0242172 {source="MEDGEN:66845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:1003", source="MESH:D000292/inferred", source="MONDO:Redundant", source="NCIT:C3889/inferred"} ! female reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000474 ! female reproductive system
intersection_of: disease_has_inflammation_site UBERON:0002355 ! pelvic region of trunk

[Term]
id: MONDO:0000923
name: interstitial emphysema
def: "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "interstitial emphysema of lung" EXACT [NCIT:C34571]
synonym: "pie" EXACT [NCIT:C34571]
synonym: "pulmonary interstitial emphysema" EXACT [NCIT:C34571]
xref: DOID:10030 {source="MONDO:equivalentTo"}
xref: ICD10CM:J98.2 {source="MONDO:equivalentTo", source="DOID:10030"}
xref: ICD9:518.1 {source="DOID:10030"}
xref: MEDGEN:234586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34571 {source="MONDO:equivalentTo", source="DOID:10030"}
xref: SCTID:11211003 {source="DOID:10030"}
xref: SCTID:390898003 {source="DOID:10030"}
xref: SCTID:77690003 {source="MONDO:equivalentTo", source="DOID:10030"}
xref: UMLS:C1370824 {source="MEDGEN:234586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004849 {source="DOID:10030", source="NCIT:C34571"} ! pulmonary emphysema

[Term]
id: MONDO:0000924
name: compensatory emphysema
xref: DOID:10031 {source="MONDO:equivalentTo"}
xref: ICD10CM:J98.3 {source="MONDO:equivalentTo", source="DOID:10031"}
xref: ICD9:518.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10031"}
xref: MEDGEN:510136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:33325001 {source="MONDO:equivalentTo", source="DOID:10031"}
xref: UMLS:C0155918 {source="MEDGEN:510136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004849 {source="DOID:10031"} ! pulmonary emphysema

[Term]
id: MONDO:0000925
name: hyperlucent lung
def: "A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax." [MESH:D019568]
xref: DOID:10032 {source="MONDO:equivalentTo"}
xref: MEDGEN:101178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019568 {source="MONDO:equivalentTo", source="DOID:10032"}
xref: UMLS:C0524799 {source="MEDGEN:101178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004849 {source="DOID:10032"} ! pulmonary emphysema

[Term]
id: MONDO:0000926
name: eye accommodation disease
def: "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Accommodation_(eye)]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of accommodation" EXACT []
xref: DOID:10034 {source="MONDO:equivalentTo"}
xref: ICD10CM:H52.5 {source="DOID:10034"}
xref: ICD9:367.5 {source="DOID:10034"}
xref: MEDGEN:508925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155137002 {source="DOID:10034"}
xref: SCTID:193631008 {source="DOID:10034"}
xref: SCTID:54552008 {source="MONDO:equivalentTo", source="DOID:10034"}
xref: UMLS:C0152198 {source="MEDGEN:508925", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:10034"} ! eye disorder

[Term]
id: MONDO:0000927
name: asymptomatic neurosyphilis
subset: inferred_rare
subset: rare
xref: DOID:10035 {source="MONDO:equivalentTo"}
xref: ICD10CM:A52.2 {source="MONDO:equivalentTo", source="DOID:10035"}
xref: ICD9:094.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10035"}
xref: MEDGEN:102259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009494 {source="DOID:10035"}
xref: SCTID:37754005 {source="MONDO:equivalentTo", source="DOID:10035"}
xref: UMLS:C0153167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102259"}
is_a: MONDO:0004944 {source="DOID:10035"} ! neurosyphilis
relationship: disease_has_feature HP:0001287 ! Meningitis

[Term]
id: MONDO:0000928
name: eyelid melanoma
def: "A melanoma that arises from the upper or lower eyelid." [NCIT:C4358]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "eyelid melanoma" EXACT [NCIT:C4358]
synonym: "eyelid melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant eyelid melanoma" EXACT [NCIT:C4358]
synonym: "malignant melanoma of eyelid" EXACT [NCIT:C4358]
synonym: "malignant melanoma of the eyelid" EXACT [NCIT:C4358]
synonym: "melanoma (disease) of eyelid" EXACT []
synonym: "melanoma of eyelid" EXACT [NCIT:C4358]
synonym: "melanoma of the eyelid" EXACT [NCIT:C4358]
xref: DOID:10040 {source="MONDO:equivalentTo"}
xref: ICD9:172.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:90937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4358 {source="MONDO:equivalentTo", source="DOID:10040"}
xref: SCTID:231834005 {source="MONDO:equivalentTo", source="DOID:10040"}
xref: UMLS:C0339116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90937"}
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C4358"} ! ocular melanoma
is_a: MONDO:0021313 {source="MONDO:Redundant", source="NCIT:C4358"} ! eyelid cancer
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0000929
name: balloon cell malignant melanoma
def: "A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion." [NCIT:P378]
synonym: "balloon cell cutaneous (skin) melanoma" EXACT [NCIT:C4227]
synonym: "balloon cell malignant melanoma of skin" EXACT [NCIT:C4227]
synonym: "balloon cell malignant melanoma of the skin" EXACT [NCIT:C4227]
synonym: "balloon cell malignant skin melanoma" EXACT [NCIT:C4227]
synonym: "balloon cell melanoma" EXACT [NCIT:C4227]
synonym: "balloon cell skin melanoma" EXACT [NCIT:C4227]
xref: DOID:10044 {source="MONDO:equivalentTo"}
xref: ICDO:8722/3 {source="NCIT:C4227"}
xref: MEDGEN:90780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4227 {source="MONDO:equivalentTo", source="DOID:10044"}
xref: SCTID:39274007 {source="DOID:10044"}
xref: SCTID:403922007 {source="MONDO:equivalentTo", source="DOID:10044"}
xref: UMLS:C0334426 {source="MEDGEN:90780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005012 {source="DOID:10044", source="NCIT:C4227"} ! cutaneous melanoma

[Term]
id: MONDO:0000930
name: nodular malignant melanoma
def: "An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "nodular cutaneous (skin) melanoma" EXACT [NCIT:C4225]
synonym: "nodular malignant melanoma of skin" EXACT [NCIT:C4225]
synonym: "nodular malignant melanoma of the skin" EXACT [NCIT:C4225]
synonym: "nodular malignant skin melanoma" EXACT [NCIT:C4225]
synonym: "nodular melanoma" EXACT [NCIT:C4225]
synonym: "nodular melanoma (morphologic abnormality)" EXACT [DOID:10047]
xref: DOID:10047 {source="MONDO:equivalentTo"}
xref: EFO:0008515 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8721/3 {source="NCIT:C4225"}
xref: MEDGEN:83144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4225 {source="MONDO:equivalentTo", source="DOID:10047"}
xref: SCTID:2142002 {source="DOID:10047"}
xref: SCTID:254731001 {source="MONDO:equivalentTo", source="DOID:10047"}
xref: UMLS:C0334424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83144"}
is_a: MONDO:0005012 {source="DOID:10047", source="EFO:0008515", source="NCIT:C4225"} ! cutaneous melanoma

[Term]
id: MONDO:0000931
name: endometrial disorder
def: "A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of endometrium" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of endometrium" EXACT []
synonym: "disorder of endometrium" EXACT [MONDO:patterns/location_top]
synonym: "endometrial disorder" EXACT []
synonym: "endometrium disease" EXACT [MONDO:patterns/location]
synonym: "endometrium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1005 {source="MONDO:equivalentTo"}
xref: MEDGEN:57473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3504 {source="DOID:1005", source="MONDO:equivalentTo"}
xref: SCTID:418632009 {source="DOID:1005", source="MONDO:equivalentTo"}
xref: UMLS:C0151622 {source="MEDGEN:57473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:1005", source="MONDO:Redundant", source="NCIT:C3504"} ! uterine disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0000932
name: obsolete skin amelanotic melanoma
is_obsolete: true
replaced_by: MONDO:0005208

[Term]
id: MONDO:0000933
name: subglottis neoplasm
def: "A benign or malignant neoplasm that affects the subglottic area of the larynx." [NCIT:C4426]
synonym: "neoplasm of subglottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4426]
synonym: "neoplasm of the subglottis" EXACT [NCIT:C4426]
synonym: "subglottic neoplasm" EXACT [NCIT:C4426]
synonym: "subglottic tumor" EXACT [DOID:10069, NCIT:C4426]
synonym: "subglottic tumour" EXACT OMO:0003005 []
synonym: "subglottis neoplasm" EXACT [NCIT:C4426]
synonym: "subglottis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "subglottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4426]
synonym: "subglottis tumour" EXACT OMO:0003005 []
synonym: "tumor of subglottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4426]
synonym: "tumor of the subglottis" EXACT [NCIT:C4426]
synonym: "tumour of subglottis" EXACT OMO:0003005 []
synonym: "tumour of the subglottis" EXACT OMO:0003005 []
xref: DOID:10069 {source="MONDO:equivalentTo"}
xref: MEDGEN:87513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4426 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10069"}
xref: SCTID:126696001 {source="MONDO:equivalentTo", source="DOID:10069"}
xref: UMLS:C0345746 {source="MEDGEN:87513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021071 {source="MONDO:Redundant", source="NCIT:C4426"} ! laryngeal neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0036068 ! subglottis

[Term]
id: MONDO:0000934
name: laryngeal leiomyoma
def: "A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6027]
synonym: "laryngeal leiomyoma" EXACT [NCIT:C6027]
synonym: "larynx leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6027]
synonym: "leiomyoma of larynx" EXACT [NCIT:C6027]
synonym: "leiomyoma of the larynx" EXACT [NCIT:C6027]
xref: DOID:10070 {source="MONDO:equivalentTo"}
xref: MEDGEN:232691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6027 {source="DOID:10070", source="MONDO:equivalentTo"}
xref: UMLS:C1334370 {source="MEDGEN:232691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001572 {source="DOID:10070", source="MONDO:Redundant", source="NCIT:C6027"} ! leiomyoma
is_a: MONDO:0002354 {source="DOID:10070", source="MONDO:Redundant", source="NCIT:C6027"} ! benign laryngeal neoplasm
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0000935
name: larynx squamous papilloma
def: "A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare." [NCIT:C7742]
synonym: "laryngeal papilloma" EXACT [NCIT:C7742]
synonym: "larynx papilloma" EXACT [NCIT:C7742]
synonym: "larynx squamous papilloma" EXACT [MONDO:patterns/location]
synonym: "papilloma of larynx" EXACT [NCIT:C7742]
synonym: "papilloma of the larynx" EXACT [NCIT:C7742]
synonym: "squamous papilloma of larynx" EXACT [NCIT:C7742]
synonym: "squamous papilloma of the larynx" EXACT [NCIT:C7742]
xref: DOID:10071 {source="MONDO:equivalentTo"}
xref: MEDGEN:116099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7742 {source="MONDO:equivalentTo", source="DOID:10071", source="MONDO:exact-label-match"}
xref: SCTID:269637007 {source="DOID:10071"}
xref: UMLS:C0240164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116099"}
is_a: MONDO:0001825 {source="MONDO:Redundant", source="NCIT:C7742"} ! squamous papilloma
is_a: MONDO:0002354 {source="DOID:10071", source="MONDO:Redundant", source="NCIT:C7742"} ! benign laryngeal neoplasm
intersection_of: MONDO:0001825 ! squamous papilloma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0000936
name: syphilitic meningitis
def: "An infectious meningitis caused by infection with Treponema." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningeal syphilis" RELATED [GARD:0008731]
synonym: "meningitis, syphilitic" RELATED [GARD:0008731]
synonym: "syphilitic aseptic meningitis" RELATED [GARD:0008731]
synonym: "Treponema caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema infectious meningitis" EXACT []
xref: DOID:10073 {source="MONDO:equivalentTo"}
xref: ICD9:094.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10073"}
xref: MEDGEN:57546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536775 {source="MONDO:equivalentTo", source="DOID:10073"}
xref: SCTID:14968007 {source="DOID:10073"}
xref: SCTID:186887006 {source="DOID:10073"}
xref: SCTID:301086002 {source="MONDO:equivalentTo", source="DOID:10073"}
xref: UMLS:C0153166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57546"}
is_a: MONDO:0005113 {source="MESH:C536775/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0006670 {source="DOID:10073", source="MONDO:Entailed"} ! bacterial meningitis
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:157 ! Treponema

[Term]
id: MONDO:0000937
name: syphilitic encephalitis
def: "An encephalitis caused by infection with Treponema." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Treponema caused encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema encephalitis" EXACT []
xref: DOID:10081 {source="MONDO:equivalentTo"}
xref: ICD9:094.81 {source="DOID:10081", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:192699001 {source="DOID:10081"}
xref: SCTID:192700000 {source="DOID:10081"}
xref: SCTID:26135000 {source="DOID:10081", source="MONDO:equivalentTo"}
xref: UMLS:C0153168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509177"}
is_a: MONDO:0019956 {source="DOID:10081", source="MONDO:Redundant"} ! encephalitis
is_a: MONDO:0020067 {source="MONDO:Redundant"} ! infectious encephalitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: disease_has_infectious_agent NCBITaxon:157 ! Treponema

[Term]
id: MONDO:0000938
name: gastric leiomyoma
def: "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT)." [NCIT:C3876]
synonym: "gastric leiomyoma" EXACT [NCIT:C3876]
synonym: "leiomyoma of stomach" EXACT [NCIT:C3876]
synonym: "leiomyoma of the stomach" EXACT [DOID:10087, NCIT:C3876]
synonym: "stomach leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:10087 {source="MONDO:equivalentTo"}
xref: MEDGEN:116062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3876 {source="MONDO:equivalentTo", source="DOID:10087", source="MONDO:exact-label-match"}
xref: SCTID:276812001 {source="MONDO:equivalentTo", source="DOID:10087"}
xref: UMLS:C0238440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116062"}
is_a: MONDO:0000385 {source="DOID:10087", source="MONDO:Redundant", source="NCIT:C3876/inferred"} ! benign digestive system neoplasm
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C3876"} ! leiomyoma
is_a: MONDO:0021449 {source="MONDO:Redundant", source="NCIT:C3876/inferred"} ! benign neoplasm of stomach
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0000939
name: intracranial abscess
def: "An abscess that is located in the intracranial space." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:10095 {source="MONDO:equivalentTo"}
xref: ICD9:324.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10095"}
xref: MEDGEN:9529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34734 {source="MONDO:equivalentTo", source="DOID:10095"}
xref: SCTID:192738001 {source="DOID:10095"}
xref: SCTID:192746000 {source="DOID:10095"}
xref: SCTID:27614006 {source="MONDO:equivalentTo", source="DOID:10095"}
xref: UMLS:C0021874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9529"}
is_a: MONDO:0002602 {source="DOID:10095", source="MONDO:Redundant"} ! central nervous system disorder
is_a: MONDO:0005227 {source="NCIT:C34734"} ! abscess

[Term]
id: MONDO:0000940
name: trypanosomiasis
def: "Infection with protozoa of the genus trypanosoma." [MESH:D014352]
synonym: "Trypanosoma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trypanosoma disease or disorder" EXACT []
synonym: "Trypanosoma infectious disease" EXACT []
synonym: "Trypanosomiases" RELATED [MESH:D014352]
xref: DOID:10113 {source="MONDO:equivalentTo"}
xref: ICD10CM:B56 {source="MONDO:equivalentTo"}
xref: ICD10CM:B57.2 {source="DOID:10113"}
xref: ICD9:086 {source="DOID:10113"}
xref: ICD9:086.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10113"}
xref: MEDGEN:52872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014352 {source="MONDO:equivalentTo", source="DOID:10113"}
xref: NANDO:2200774 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:154375001 {source="DOID:10113"}
xref: SCTID:186819000 {source="DOID:10113"}
xref: SCTID:266205000 {source="DOID:10113"}
xref: SCTID:78940002 {source="MONDO:equivalentTo", source="DOID:10113"}
xref: UMLS:C0041227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52872"}
is_a: MONDO:0002428 {source="DOID:10113", source="MESH:D014352/inferred"} ! protozoa infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5690 ! Trypanosoma

[Term]
id: MONDO:0000941
name: eyelid degenerative disorder
def: "A neurodegenerative disease that involves the eyelid." [MONDO:patterns/location]
synonym: "eyelid neurodegenerative disease" EXACT [MONDO:patterns/location]
synonym: "neurodegenerative disease of eyelid" EXACT [MONDO:design_pattern]
xref: DOID:10120 {source="MONDO:equivalentObsolete"}
xref: ICD9:374.50 {source="DOID:10120"}
xref: MEDGEN:509851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1112003 {source="MONDO:equivalentTo", source="DOID:10120"}
xref: SCTID:193957009 {source="DOID:10120"}
xref: UMLS:C0155209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509851"}
is_a: MONDO:0003382 {source="DOID:10120", source="MONDO:Redundant"} ! eyelid disorder
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0000942
name: corneal disorder
def: "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cornea disease" EXACT [MONDO:patterns/location]
synonym: "cornea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "corneal disease" EXACT [NCIT:C26731]
synonym: "corneal disorder" EXACT [NCIT:C26731]
synonym: "disease of cornea" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cornea" EXACT []
synonym: "disorder of cornea" EXACT [MONDO:patterns/location_top]
xref: DOID:10124 {source="MONDO:equivalentTo"}
xref: EFO:0009464 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H15-H22 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H18.9 {source="DOID:10124"}
xref: ICD9:371.30 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:371.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:371.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10124"}
xref: MEDGEN:3617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003316 {source="MONDO:equivalentTo", source="DOID:10124"}
xref: NCIT:C26731 {source="MONDO:equivalentTo", source="DOID:10124"}
xref: SCTID:15250008 {source="MONDO:equivalentTo", source="DOID:10124"}
xref: SCTID:155160005 {source="DOID:10124"}
xref: SCTID:193794007 {source="DOID:10124"}
xref: SCTID:193856004 {source="DOID:10124"}
xref: SCTID:267733008 {source="DOID:10124"}
xref: UMLS:C0010034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3617"}
is_a: MONDO:0005328 {source="DOID:10124", source="MESH:D003316", source="MONDO:Redundant", source="NCIT:C26731"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0000943
name: acute hydrops keratoconus
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acute corneal hydrops" RELATED [http://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm]
synonym: "acute hydrops of cornea" RELATED [http://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm]
synonym: "keratoconus, acute hydrops" EXACT [DOID:10125, ICD9CM:371.62]
xref: DOID:10125 {source="MONDO:equivalentTo"}
xref: ICD9:371.62 {source="DOID:10125", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:573067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111523009 {source="DOID:10125", source="MONDO:equivalentTo"}
xref: UMLS:C0339286 {source="MEDGEN:573067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015486 {source="DOID:10125"} ! keratoconus
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000944
name: cerebral artery occlusion
subset: otar {source="MONDO:OTAR"}
xref: DOID:10127 {source="MONDO:equivalentTo"}
xref: ICD9:434 {source="DOID:10127"}
xref: ICD9:434.9 {source="DOID:10127"}
xref: ICD9:434.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:507994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155400001 {source="DOID:10127"}
xref: SCTID:155403004 {source="DOID:10127"}
xref: SCTID:195188006 {source="DOID:10127"}
xref: SCTID:20059004 {source="DOID:10127", source="MONDO:equivalentTo"}
xref: SCTID:266255008 {source="DOID:10127"}
xref: SCTID:286956007 {source="DOID:10127"}
xref: UMLS:C0028790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507994"}
is_a: MONDO:0011057 {source="DOID:10127"} ! cerebrovascular disorder
is_a: MONDO:1040016 {source="https://orcid.org/0000-0002-0587-4693"} ! cerebral artery stenosis
intersection_of: MONDO:0020672 ! vascular occlusion disorder
intersection_of: disease_has_location UBERON:0004449 ! cerebral artery
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0000945
name: venous insufficiency
def: "Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle." [MESH:D014689]
subset: otar {source="MONDO:OTAR"}
synonym: "peripheral venous insufficiency" NARROW [DOID:10128]
synonym: "venous insufficiency" EXACT [MONDO:ambiguous]
synonym: "venous insufficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10128 {source="MONDO:equivalentTo"}
xref: HP:0005293 {source="MONDO:otherHierarchy"}
xref: ICD9:459.81 {source="DOID:10128", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014689 {source="DOID:10128", source="MONDO:equivalentTo"}
xref: SCTID:20696009 {source="DOID:10128", source="MONDO:equivalentTo"}
xref: UMLS:C0042485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21841"}
is_a: MONDO:0004634 {source="DOID:10128"} ! vein disorder
intersection_of: MONDO:0020674 ! vascular insufficiency disorder
intersection_of: disease_has_location UBERON:0001638 ! vein
property_value: IAO:0000589 "venous insufficiency (disease)" xsd:string

[Term]
id: MONDO:0000946
name: psychologic vaginismus
def: "Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." [NCIT:C35113]
synonym: "functional vaginismus" EXACT [DOID:10131]
synonym: "non-organic vaginismus" EXACT [DOID:10131]
synonym: "psychogenic vaginismus" EXACT [DOID:10131, NCIT:C35113]
xref: DOID:10131 {source="MONDO:equivalentTo"}
xref: ICD10CM:F52.5 {source="DOID:10131"}
xref: ICD9:306.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10131"}
xref: MEDGEN:52970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35113 {source="MONDO:otherHierarchy", source="DOID:10131"}
xref: SCTID:154924008 {source="DOID:10131"}
xref: SCTID:192469003 {source="DOID:10131"}
xref: SCTID:268773000 {source="DOID:10131"}
xref: SCTID:71787009 {source="MONDO:equivalentTo", source="DOID:10131"}
xref: UMLS:C0042266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52970"}
is_a: MONDO:0000947 {source="DOID:10131"} ! psychosexual disorder
is_a: MONDO:0021723 {source="https://orcid.org/0000-0001-5208-3432"} ! vaginismus

[Term]
id: MONDO:0000947
name: psychosexual disorder
synonym: "non-organic sexual dysfunction" RELATED []
xref: DOID:10132 {source="MONDO:equivalentTo"}
xref: ICD10CM:F50-F59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:302.79 {source="DOID:10132"}
xref: ICD9:302.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:302.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:18747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:56627002 {source="MONDO:equivalentTo"}
xref: UMLS:C0033953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18747"}
is_a: MONDO:0000595 {source="DOID:10132", source="MONDO:Redundant"} ! sexual and gender identity disorders
is_a: MONDO:0005084 {source="MONDO:Redundant"} ! mental disorder
intersection_of: MONDO:0000595 ! sexual and gender identity disorders
intersection_of: disease_has_basis_in_disruption_of MF:0000020 ! mental process
disjoint_from: MONDO:0002134 ! physiological sexual disorder

[Term]
id: MONDO:0000948
name: xerophthalmia
def: "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma." [NCIT:P378]
synonym: "conjunctival xerosis" EXACT [DOID:10138, ICD9CM:372.53]
xref: DOID:10138 {source="MONDO:equivalentTo"}
xref: ICD10CM:E50.7 {source="DOID:10138"}
xref: ICD10CM:H04.12 {source="DOID:10138"}
xref: ICD9:375.15 {source="DOID:10138"}
xref: MEDGEN:9620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014985 {source="DOID:10138", source="MONDO:equivalentTo"}
xref: NCIT:C34503 {source="DOID:10138", source="MONDO:equivalentTo"}
xref: SCTID:155167008 {source="DOID:10138"}
xref: SCTID:193887002 {source="DOID:10138"}
xref: SCTID:193980001 {source="DOID:10138"}
xref: SCTID:363677007 {source="DOID:10138", source="MONDO:equivalentTo"}
xref: SCTID:46152009 {source="DOID:10138"}
xref: SCTID:69316005 {source="DOID:10138"}
xref: UMLS:C0022575 {source="MEDGEN:9620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006733 {source="DOID:10138", source="MESH:D014985"} ! dry eye syndrome

[Term]
id: MONDO:0000949
name: conjunctival degeneration
xref: DOID:10139 {source="MONDO:equivalentTo"}
xref: ICD10CM:H11.10 {source="DOID:10139"}
xref: ICD9:372.50 {source="DOID:10139", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193886006 {source="DOID:10139"}
xref: SCTID:40787005 {source="DOID:10139", source="MONDO:equivalentTo"}
xref: UMLS:C0155160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509820"}
is_a: MONDO:0006170 {source="DOID:10139"} ! conjunctival disorder

[Term]
id: MONDO:0000950
name: asthenopia
def: "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." [MESH:D001248]
synonym: "accommodative strain" EXACT [DOID:10141]
xref: DOID:10141 {source="MONDO:equivalentObsolete"}
xref: ICD10CM:H53.14 {source="DOID:10141"}
xref: MEDGEN:2108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001248 {source="MONDO:equivalentTo", source="DOID:10141"}
xref: SCTID:193645002 {source="DOID:10141"}
xref: SCTID:46640001 {source="DOID:10141"}
xref: SCTID:70323002 {source="DOID:10141"}
xref: UMLS:C0004095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2108"}
is_a: MONDO:0005328 {source="DOID:10141", source="MESH:D001248"} ! eye disorder

[Term]
id: MONDO:0000951
name: thymus lymphoma
def: "A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." [NCIT:C6451]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoma of the Thymus" EXACT [NCIT:C6451]
synonym: "lymphoma of Thymus" EXACT [NCIT:C6451]
synonym: "lymphoma of thymus" EXACT []
synonym: "primary thymic lymphoma" EXACT [NCIT:C6451]
synonym: "thymic lymphoma" EXACT [MONDO:0006057, NCIT:C6451]
synonym: "Thymus lymphoma" EXACT [NCIT:C6451]
synonym: "thymus lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:10146 {source="MONDO:equivalentTo"}
xref: EFO:1000054 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6451 {source="EFO:1000054", source="MONDO:equivalentTo", source="DOID:10146"}
xref: UMLS:C1336745 {source="MEDGEN:277818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002586 {source="DOID:10146", source="MONDO:Redundant", source="NCIT:C6451"} ! thymus cancer
is_a: MONDO:0004021 {source="NCIT:C6451"} ! mediastinal malignant lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002370 ! thymus
relationship: disease_has_location UBERON:0002370 {source="NCIT:C6451"} ! thymus

[Term]
id: MONDO:0000952
name: cancer of long bone of lower limb
def: "A cancer that involves the hindlimb long bone." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of hindlimb long bone" EXACT [MONDO:patterns/cancer]
synonym: "hindlimb long bone cancer" EXACT [MONDO:patterns/location]
synonym: "long bones of lower limb cancer" RELATED [DOID:10149]
synonym: "malignant hindlimb long bone neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of hindlimb long bone" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of long bones of leg" EXACT [DOID:10149]
xref: DOID:10149 {source="MONDO:equivalentTo"}
xref: ICD10CM:C40.2 {source="DOID:10149", source="MONDO:equivalentTo"}
xref: ICD9:170.7 {source="DOID:10149", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:757711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187959005 {source="DOID:10149"}
xref: SCTID:187963003 {source="DOID:10149"}
xref: SCTID:449627008 {source="MONDO:equivalentTo"}
xref: UMLS:C3265932 {source="MEDGEN:757711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002129 {source="DOID:10149", source="MONDO:Redundant"} ! bone cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003608 ! hindlimb long bone

[Term]
id: MONDO:0000953
name: cancer of short bone of lower limb
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant neoplasm of short bone of lower limb" EXACT [DOID:10151]
synonym: "malignant neoplasm of short bones of leg" EXACT [DOID:10151]
xref: DOID:10151 {source="MONDO:equivalentTo"}
xref: ICD10CM:C40.3 {source="MONDO:equivalentTo", source="DOID:10151"}
xref: ICD9:170.8 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10151"}
xref: MEDGEN:509319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187964009 {source="DOID:10151"}
xref: SCTID:187979002 {source="DOID:10151"}
xref: SCTID:269468002 {source="DOID:10151"}
xref: SCTID:712525007 {source="MONDO:equivalentTo", source="DOID:10151"}
xref: SCTID:94003005 {source="DOID:10151"}
xref: UMLS:C0153518 {source="MEDGEN:509319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024311 {source="ICD10CM:C40.3", source="https://orcid.org/0000-0001-5208-3432"} ! cancer affecting bone of limb skeleton
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002103 ! hindlimb
intersection_of: disease_has_location UBERON:0013630 ! short bone
relationship: excluded_subClassOf MONDO:0000952 {source="DOID:10151", source="https://orcid.org/0000-0001-5208-3432"} ! cancer of long bone of lower limb

[Term]
id: MONDO:0000954
name: Meckel diverticulum cancer
def: "A cancer involving a Meckel's diverticulum." [MONDO:patterns/cancer]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of Meckel's diverticulum" EXACT [MONDO:patterns/cancer]
synonym: "malignant Meckel's diverticulum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of Meckel's diverticulum" EXACT [DOID:10152, MONDO:patterns/cancer]
synonym: "Meckel diverticulum cancer" EXACT [DOID:10152]
synonym: "Meckel's diverticulum cancer" EXACT [MONDO:patterns/location]
xref: DOID:10152 {source="MONDO:equivalentTo"}
xref: ICD9:152.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10152"}
xref: MEDGEN:509288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187752007 {source="MONDO:equivalentTo", source="DOID:10152"}
xref: SCTID:93890009 {source="DOID:10152"}
xref: UMLS:C0153429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509288"}
is_a: MONDO:0000955 {source="DOID:10152", source="MONDO:Entailed", source="MONDO:Redundant"} ! ileum cancer
is_a: MONDO:0021082 {source="MONDO:Redundant"} ! Meckel diverticulum neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003705 ! Meckel's diverticulum

[Term]
id: MONDO:0000955
name: ileum cancer
def: "A malignant neoplasm involving the ileum" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of ileum" EXACT [MONDO:patterns/cancer]
synonym: "ileal neoplasm" RELATED EXCLUDE [DOID:10153]
synonym: "ileum cancer" EXACT [MONDO:patterns/location]
synonym: "malignant ileum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ileum" EXACT [DOID:10153, ICD9CM:152.2, MONDO:patterns/cancer]
xref: DOID:10153 {source="MONDO:equivalentTo"}
xref: ICD10CM:C17.2 {source="DOID:10153"}
xref: ICD9:152.2 {source="DOID:10153"}
xref: MEDGEN:83390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363405009 {source="DOID:10153"}
xref: SCTID:93832004 {source="DOID:10153"}
xref: UMLS:C0345836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83390"}
is_a: MONDO:0000956 {source="DOID:10153", source="MONDO:Entailed", source="MONDO:Redundant"} ! small intestine cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002116 ! ileum

[Term]
id: MONDO:0000956
name: small intestine cancer
def: "A primary or metastatic malignant neoplasm involving the small intestine." [NCIT:C7523]
subset: gard_rare {source="GARD:9385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of small intestine" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of small bowel" EXACT [NCIT:C7523]
synonym: "malignant neoplasm of small intestine" EXACT [MONDO:patterns/cancer, NCIT:C7523]
synonym: "malignant neoplasm of the small bowel" EXACT [NCIT:C7523]
synonym: "malignant neoplasm of the small intestine" EXACT [NCIT:C7523]
synonym: "malignant neoplasms of the small intestine" RELATED [GARD:0009385]
synonym: "malignant small bowel neoplasm" EXACT [NCIT:C7523]
synonym: "malignant small bowel tumor" EXACT [NCIT:C7523]
synonym: "malignant small bowel tumour" EXACT OMO:0003005 []
synonym: "malignant small intestinal neoplasm" EXACT [NCIT:C7523]
synonym: "malignant small intestine neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7523]
synonym: "malignant small intestine tumor" EXACT [NCIT:C7523]
synonym: "malignant small intestine tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of small bowel" EXACT [NCIT:C7523]
synonym: "malignant tumor of small intestine" EXACT [NCIT:C7523]
synonym: "malignant tumor of the small bowel" EXACT [NCIT:C7523]
synonym: "malignant tumor of the small intestine" EXACT [NCIT:C7523]
synonym: "malignant tumour of small bowel" EXACT OMO:0003005 []
synonym: "malignant tumour of small intestine" EXACT OMO:0003005 []
synonym: "malignant tumour of the small bowel" EXACT OMO:0003005 []
synonym: "malignant tumour of the small intestine" EXACT OMO:0003005 []
synonym: "small bowel tumors" RELATED [GARD:0009385]
synonym: "small bowel tumours" RELATED OMO:0003005 []
synonym: "small intestine cancer" EXACT [MONDO:patterns/location]
xref: DOID:10154 {source="MONDO:equivalentTo"}
xref: GARD:9385 {source="MONDO:GARD"}
xref: ICD10CM:C17 {source="DOID:10154"}
xref: ICD10CM:C17.9 {source="DOID:10154"}
xref: ICD9:152.9 {source="DOID:10154"}
xref: MEDGEN:56300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7523 {source="MONDO:equivalentTo", source="DOID:10154"}
xref: SCTID:154555009 {source="DOID:10154"}
xref: SCTID:187755009 {source="DOID:10154"}
xref: SCTID:269615000 {source="DOID:10154"}
xref: SCTID:363509000 {source="DOID:10154"}
xref: SCTID:94048009 {source="DOID:10154"}
xref: UMLS:C0153425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56300"}
is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C7523"} ! small intestine neoplasm
is_a: MONDO:0005814 {source="DOID:10154", source="MONDO:Redundant", source="NCIT:C7523"} ! intestinal cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002108 ! small intestine
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer" xsd:anyURI {source="GARD:0009385"}

[Term]
id: MONDO:0000957
name: lacrimal passage granuloma
synonym: "granuloma of lacrimal passages" EXACT [DOID:10174, ICD9CM:375.81]
xref: DOID:10174 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.81 {source="DOID:10174"}
xref: ICD9:375.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10174"}
xref: MEDGEN:509875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194001006 {source="DOID:10174"}
xref: SCTID:417563003 {source="MONDO:equivalentTo", source="DOID:10174"}
xref: SCTID:82836006 {source="DOID:10174"}
xref: UMLS:C0155253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509875"}
is_a: MONDO:0001854 {source="DOID:10174"} ! lacrimal apparatus disorder
relationship: disease_has_location UBERON:0001850 ! lacrimal drainage system

[Term]
id: MONDO:0000958
name: neuroretinitis
def: "Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina." [http://eyewiki.aao.org/Neuroretinitis]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "focal retinitis and retinochoroiditis, juxtapapillary" NARROW [DOID:10176, ICD9CM:363.05]
synonym: "Juxtapapillary focal retinitis and retinochoroiditis" NARROW [DOID:10176]
synonym: "papilloretinitis" NARROW [DOID:10176]
xref: DOID:10176 {source="MONDO:equivalentTo"}
xref: ICD10CM:H30.9 {source="DOID:10176"}
xref: ICD9:363.05 {source="http://eyewiki.aao.org/Neuroretinitis"}
xref: MEDGEN:57826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012173 {source="MONDO:relatedTo", source="DOID:10176"}
xref: SCTID:410471004 {source="DOID:10176"}
xref: UMLS:C0154874 {source="MEDGEN:57826", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006879 ! optic papillitis
intersection_of: MONDO:0002122 ! neuritis
intersection_of: disease_has_inflammation_site UBERON:0000941 ! cranial nerve II
intersection_of: disease_has_inflammation_site UBERON:0001793 ! nerve fiber layer of retina

[Term]
id: MONDO:0000959
name: malignant hypertensive renal disease
xref: DOID:10177 {source="MONDO:equivalentTo"}
xref: ICD9:403.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:65443008 {source="MONDO:equivalentTo", source="DOID:10177"}
xref: UMLS:C0155593 {source="MEDGEN:510034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006846 {source="DOID:10177", source="MONDO:Redundant"} ! malignant hypertension
is_a: MONDO:0024633 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hypertensive nephropathy
intersection_of: MONDO:0006846 ! malignant hypertension
intersection_of: MONDO:0024633 ! hypertensive nephropathy
relationship: excluded_subClassOf MONDO:0001105 {source="DOID:10177", source="https://orcid.org/0000-0001-5208-3432"} ! renal hypertension

[Term]
id: MONDO:0000960
name: diabetic peripheral angiopathy
def: "Diabetic angiopathy is a form of angiopathy associated with diabetic complications." [Wikipedia:Diabetic_angiopathy]
subset: otar {source="MONDO:OTAR"}
synonym: "diabetic angiopathy" EXACT [MONDO:0006725]
synonym: "diabetic vascular disorder" EXACT [DOID:11713, NCIT:C35610]
xref: DOID:10182 {source="MONDO:equivalentObsolete"}
xref: DOID:11713 {source="MONDO:equivalentTo", source="EFO:1000896"}
xref: EFO:1000896 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:250.7 {source="DOID:10182"}
xref: ICD9:443.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:507633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003925 {source="DOID:11713", source="MONDO:equivalentTo", source="EFO:1000896"}
xref: NCIT:C35610 {source="DOID:11713", source="MONDO:equivalentTo"}
xref: SCTID:127014009 {source="DOID:10182", source="MONDO:equivalentTo", source="EFO:1000896"}
xref: SCTID:190354007 {source="DOID:10182"}
xref: SCTID:190361006 {source="DOID:10182"}
xref: SCTID:267383000 {source="DOID:10182"}
xref: SCTID:267473003 {source="DOID:10182"}
xref: SCTID:982001 {source="DOID:10182"}
xref: UMLS:C0011871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507633"}
is_a: MONDO:0005294 {source="DOID:11713", source="EFO:1000896"} ! peripheral vascular disease
relationship: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus
relationship: disease_causes_dysfunction_of CL:0000669 ! pericyte

[Term]
id: MONDO:0000961
name: endobronchial lipoma
def: "A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree." [NCIT:C5063]
comment: Editor note: TODO check with NCIT why this is classified as lung
synonym: "endobronchial lipoma" EXACT [NCIT:C5063]
xref: DOID:10183 {source="MONDO:equivalentTo"}
xref: MEDGEN:208874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5063 {source="MONDO:equivalentTo", source="DOID:10183", source="MONDO:exact-label-match"}
xref: UMLS:C0852937 {source="MEDGEN:208874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002807 {source="DOID:10183"} ! bronchial neoplasm
is_a: MONDO:0005106 {source="NCIT:C5063"} ! lipoma
is_a: MONDO:0044335 {source="NCIT:C5063"} ! benign soft tissue neoplasm
relationship: disease_has_location UBERON:0007196 ! tracheobronchial tree
relationship: excluded_subClassOf MONDO:0002732 {source="NCIT:C5063", source="https://orcid.org/0000-0001-5208-3432"} ! lung benign neoplasm

[Term]
id: MONDO:0000962
name: spindle cell lipoma
def: "A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity." [NCIT:C4254]
subset: otar {source="MONDO:OTAR"}
synonym: "spindle cell lipoma" EXACT [DOID:10184, NCIT:C4254]
synonym: "spindle cell lipoma (morphologic abnormality)" EXACT [DOID:10184]
xref: DOID:10184 {source="MONDO:equivalentTo"}
xref: ICDO:8857/0 {source="NCIT:C4254"}
xref: MEDGEN:83153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4254 {source="MONDO:equivalentTo", source="DOID:10184"}
xref: SCTID:27313007 {source="DOID:10184"}
xref: SCTID:404058008 {source="MONDO:equivalentTo", source="DOID:10184"}
xref: UMLS:C0334474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83153"}
is_a: MONDO:0005106 {source="DOID:10184", source="NCIT:C4254/inferred"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell

[Term]
id: MONDO:0000963
name: esophageal lipoma
def: "A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections." [NCIT:C5701]
synonym: "esophageal lipoma" EXACT [NCIT:C5701]
synonym: "esophagus lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of esophagus" EXACT [DOID:10187, NCIT:C5701]
synonym: "lipoma of oesophagus" EXACT OMO:0003005 []
synonym: "lipoma of the esophagus" EXACT [NCIT:C5701]
synonym: "lipoma of the oesophagus" EXACT OMO:0003005 []
synonym: "oesophagus lipoma" EXACT OMO:0003005 []
xref: DOID:10187 {source="MONDO:equivalentTo"}
xref: MEDGEN:232162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5701 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10187"}
xref: UMLS:C1333455 {source="MEDGEN:232162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="DOID:10187", source="MONDO:Redundant", source="NCIT:C5701/inferred"} ! benign digestive system neoplasm
is_a: MONDO:0003749 {source="DOID:10187", source="MONDO:Redundant", source="NCIT:C5701/inferred"} ! esophageal disorder
is_a: MONDO:0005106 {source="DOID:10187", source="MONDO:Redundant", source="NCIT:C5701"} ! lipoma
is_a: MONDO:0021459 {source="MONDO:Redundant", source="NCIT:C5701"} ! benign neoplasm of esophagus
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0000964
name: skin lipoma
def: "A benign or malignant adipose tissue neoplasm of the skin." [NCIT:P378]
synonym: "cutaneous lipoma" EXACT [DOID:10188, NCIT:C4616]
synonym: "cutaneous lipomatous tumor" EXACT [DOID:10188]
synonym: "cutaneous lipomatous tumour" EXACT OMO:0003005 []
synonym: "lipoma of face" NARROW [DOID:10188]
synonym: "lipoma of skin" EXACT [DOID:10188, NCIT:C4616]
synonym: "lipoma of the skin" EXACT [NCIT:C4616]
synonym: "lipoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin lipoma" EXACT [NCIT:C4616]
synonym: "zone of skin lipoma" EXACT [MONDO:patterns/location]
xref: DOID:10188 {source="MONDO:equivalentTo"}
xref: ICD9:214.0 {source="MONDO:relatedTo", source="DOID:10188"}
xref: ICD9:214.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4616 {source="MONDO:equivalentTo", source="DOID:10188"}
xref: NCIT:C5566 {source="DOID:10188"}
xref: SCTID:188989000 {source="DOID:10188"}
xref: SCTID:255187008 {source="MONDO:equivalentTo", source="DOID:10188"}
xref: SCTID:93159009 {source="MONDO:relatedTo", source="DOID:10188"}
xref: UMLS:C0347394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91128"}
is_a: MONDO:0002531 {source="DOID:10188", source="MONDO:Redundant", source="NCIT:C4616/inferred"} ! skin neoplasm
is_a: MONDO:0005106 {source="DOID:10188", source="MONDO:Redundant", source="NCIT:C4616"} ! lipoma
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C4616/inferred"} ! benign neoplasm of skin
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0000965
name: liver lipoma
def: "A rare benign adipose tissue neoplasm of the liver." [NCIT:C5750]
synonym: "hepatic lipoma" EXACT [NCIT:C5750]
synonym: "lipoma of liver" EXACT [NCIT:C5750]
synonym: "lipoma of the liver" EXACT [DOID:10190, NCIT:C5750]
synonym: "liver lipoma" EXACT [MONDO:patterns/location, NCIT:C5750]
xref: DOID:10190 {source="MONDO:equivalentTo"}
xref: MEDGEN:232277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5750 {source="DOID:10190", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333970 {source="MONDO:equivalentTo", source="MEDGEN:232277", source="MONDO:MEDGEN"}
is_a: MONDO:0005106 {source="DOID:10190", source="MONDO:Redundant", source="NCIT:C5750"} ! lipoma
is_a: MONDO:0005154 {source="DOID:10190", source="DOID:10190/inferred", source="MONDO:Redundant", source="NCIT:C5750/inferred"} ! liver disorder
is_a: MONDO:0024477 {source="DOID:10190", source="MONDO:Entailed", source="MONDO:Redundant"} ! liver and intrahepatic bile duct neoplasm
is_a: MONDO:0859689 {source="https://orcid.org/0000-0001-8134-3037"} ! hepatobiliary benign neoplasm
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0002107 ! liver
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7300" xsd:anyURI

[Term]
id: MONDO:0000966
name: pleomorphic lipoma
def: "A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei." [NCIT:C3703]
synonym: "pleomorphic lipoma" EXACT [DOID:10192, NCIT:C3703]
synonym: "pleomorphic lipoma (morphologic abnormality)" EXACT [DOID:10192]
xref: DOID:10192 {source="MONDO:equivalentTo"}
xref: ICDO:8854/0 {source="NCIT:C3703"}
xref: MEDGEN:60027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008067 {source="DOID:10192"}
xref: NCIT:C3703 {source="MONDO:equivalentTo", source="DOID:10192"}
xref: SCTID:189783001 {source="DOID:10192"}
xref: SCTID:21396005 {source="DOID:10192"}
xref: SCTID:404059000 {source="MONDO:equivalentTo", source="DOID:10192"}
xref: UMLS:C0205823 {source="MEDGEN:60027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005106 {source="DOID:10192", source="NCIT:C3703/inferred"} ! lipoma

[Term]
id: MONDO:0000967
name: conventional lipoma
def: "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones." [NCIT:C27530]
synonym: "classic type lipoma" EXACT [NCIT:C27530]
synonym: "conventional lipoma" EXACT [NCIT:C27530]
xref: DOID:10193 {source="MONDO:equivalentTo"}
xref: MEDGEN:272486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27530 {source="DOID:10193", source="MONDO:equivalentTo"}
xref: UMLS:C1333059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272486"}
is_a: MONDO:0005106 {source="DOID:10193", source="NCIT:C27530"} ! lipoma

[Term]
id: MONDO:0000968
name: kidney lipoma
def: "A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain." [NCIT:C5101]
synonym: "kidney lipoma" EXACT [MONDO:patterns/location, NCIT:C5101]
synonym: "lipoma of kidney" EXACT [DOID:10194, NCIT:C5101]
synonym: "lipoma of the kidney" EXACT [NCIT:C5101]
synonym: "renal lipoma" EXACT [NCIT:C5101]
xref: DOID:10194 {source="MONDO:equivalentTo"}
xref: MEDGEN:277588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5101 {source="MONDO:equivalentTo", source="DOID:10194", source="MONDO:exact-label-match"}
xref: UMLS:C1335744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277588"}
is_a: MONDO:0002513 {source="DOID:10194", source="MONDO:Redundant", source="NCIT:C5101"} ! kidney benign neoplasm
is_a: MONDO:0005106 {source="DOID:10194", source="MONDO:Redundant", source="NCIT:C5101"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0000969
name: pleural lipoma
def: "A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall." [NCIT:C6644]
synonym: "lipoma of pleura" EXACT [DOID:10195, NCIT:C6644]
synonym: "lipoma of the pleura" EXACT [NCIT:C6644]
synonym: "pleura lipoma" EXACT [MONDO:patterns/location]
synonym: "pleural lipoma" EXACT [NCIT:C6644]
xref: DOID:10195 {source="MONDO:equivalentTo"}
xref: MEDGEN:233862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6644 {source="MONDO:equivalentTo", source="DOID:10195", source="MONDO:exact-label-match"}
xref: SCTID:2460001000004103 {source="MONDO:equivalentTo", source="DOID:10195"}
xref: UMLS:C1335434 {source="MEDGEN:233862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000382 {source="DOID:10195", source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0002037 {source="DOID:10195", source="MONDO:Redundant", source="NCIT:C6644/inferred"} ! pleural disorder
is_a: MONDO:0005106 {source="DOID:10195", source="MONDO:Redundant", source="NCIT:C6644"} ! lipoma
is_a: MONDO:0021457 {source="MONDO:Redundant", source="NCIT:C6644"} ! benign neoplasm of pleura
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0000970
name: breast lipoma
def: "A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent." [NCIT:C4647]
synonym: "breast lipoma" EXACT [MONDO:patterns/location, NCIT:C4647]
synonym: "lipoma of breast" EXACT [DOID:10199, NCIT:C4647]
synonym: "lipoma of the breast" EXACT [NCIT:C4647]
xref: DOID:10199 {source="MONDO:equivalentTo"}
xref: ICD9:214.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4647 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10199"}
xref: SCTID:276891009 {source="MONDO:equivalentTo", source="DOID:10199"}
xref: UMLS:C0349565 {source="MEDGEN:138103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000620 {source="DOID:10199", source="MONDO:Redundant", source="NCIT:C4647"} ! breast benign neoplasm
is_a: MONDO:0005106 {source="DOID:10199", source="MONDO:Redundant", source="NCIT:C4647"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0000971
name: chest wall lipoma
def: "A benign adipose tissue neoplasm of the chest wall." [NCIT:P378]
synonym: "chest wall lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of chest wall" EXACT [NCIT:C6719]
synonym: "lipoma of the chest wall" EXACT [DOID:10200, NCIT:C6719]
xref: DOID:10200 {source="MONDO:equivalentTo"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:234118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6719 {source="MONDO:equivalentTo", source="DOID:10200"}
xref: SCTID:448270009 {source="MONDO:equivalentTo", source="DOID:10200"}
xref: UMLS:C1332932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234118"}
is_a: MONDO:0000634 {source="DOID:10200", source="MONDO:Redundant", source="NCIT:C6719/inferred"} ! thoracic benign neoplasm
is_a: MONDO:0005106 {source="DOID:10200", source="MONDO:Redundant", source="NCIT:C6719"} ! lipoma
is_a: MONDO:0021529 {source="MONDO:Redundant", source="NCIT:C6719"} ! benign neoplasm of chest wall
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0016435 ! chest wall

[Term]
id: MONDO:0000972
name: gallbladder lipoma
def: "A benign adipose tissue neoplasm involving the gallbladder wall." [NCIT:C5835]
synonym: "gall bladder lipoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder lipoma" EXACT [NCIT:C5835]
synonym: "lipoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "lipoma of gallbladder" EXACT [NCIT:C5835]
synonym: "lipoma of the gallbladder" EXACT [DOID:10201, NCIT:C5835]
xref: DOID:10201 {source="MONDO:equivalentTo"}
xref: MEDGEN:272660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5835 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10201"}
xref: UMLS:C1333747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272660"}
is_a: MONDO:0005106 {source="DOID:10201", source="MONDO:Redundant", source="NCIT:C5835"} ! lipoma
is_a: MONDO:0005281 {source="DOID:10201", source="MONDO:Redundant", source="NCIT:C5835/inferred"} ! gallbladder disorder
is_a: MONDO:0021503 {source="MONDO:Redundant", source="NCIT:C5835/inferred"} ! benign neoplasm of gallbladder
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder
relationship: excluded_subClassOf MONDO:0005304 {source="DOID:10201", source="https://orcid.org/0000-0001-5208-3432"} ! biliary tract neoplasm

[Term]
id: MONDO:0000973
name: external ear lipoma
def: "A benign adipose tissue neoplasm of the external ear." [NCIT:C4618]
synonym: "external auditory meatus lipoma" EXACT [NCIT:C4618]
synonym: "external Ear lipoma" EXACT [NCIT:C4618]
synonym: "external ear lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of external auditory meatus" EXACT [NCIT:C4618]
synonym: "lipoma of external Ear" EXACT [NCIT:C4618]
synonym: "lipoma of external ear" EXACT []
synonym: "lipoma of the external auditory meatus" EXACT [NCIT:C4618]
synonym: "lipoma of the external Ear" EXACT [NCIT:C4618]
synonym: "lipoma of the external ear" EXACT [DOID:10203, NCIT:C4618]
xref: DOID:10203 {source="MONDO:equivalentTo"}
xref: ICD9:215.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4618 {source="DOID:10203", source="MONDO:equivalentTo"}
xref: SCTID:188988008 {source="DOID:10203", source="MONDO:equivalentTo"}
xref: UMLS:C0347423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91130"}
is_a: MONDO:0000633 {source="DOID:10203", source="MONDO:Redundant", source="MONDO:indirect"} ! sensory organ benign neoplasm
is_a: MONDO:0005106 {source="MONDO:Redundant", source="NCIT:C4618"} ! lipoma
is_a: MONDO:0021235 {source="MONDO:Redundant", source="NCIT:C4618/inferred"} ! external ear neoplasm
is_a: MONDO:0021474 {source="MONDO:Redundant", source="NCIT:C4618/inferred"} ! benign neoplasm of ear
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0000974
name: axillary lipoma
def: "A benign adipose tissue neoplasm of the axilla." [NCIT:C35419]
synonym: "axilla lipoma" EXACT [MONDO:patterns/location]
synonym: "axillary lipoma" EXACT [NCIT:C35419]
synonym: "lipoma of axilla" EXACT [DOID:10205, NCIT:C35419]
xref: DOID:10205 {source="MONDO:equivalentTo"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35419 {source="MONDO:equivalentTo"}
xref: SCTID:188993006 {source="DOID:10205", source="MONDO:equivalentTo"}
xref: UMLS:C0347429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87575"}
is_a: MONDO:0000634 {source="DOID:10205", source="NCIT:C35419/inferred"} ! thoracic benign neoplasm
is_a: MONDO:0005106 {source="MONDO:Redundant", source="NCIT:C35419"} ! lipoma
is_a: MONDO:0036781 {source="MONDO:Redundant", source="NCIT:C35419"} ! benign axillary neoplasm
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0009472 ! axilla

[Term]
id: MONDO:0000975
name: lipoma of spermatic cord
def: "A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions." [NCIT:P378]
synonym: "lipoma of spermatic cord" EXACT [DOID:10206, ICD9CM:214.4, NCIT:C3606]
synonym: "lipoma of the spermatic cord" EXACT [NCIT:C3606]
synonym: "spermatic cord lipoma" EXACT [DOID:10206, MONDO:patterns/location, NCIT:C3606]
xref: DOID:10206 {source="MONDO:equivalentTo"}
xref: ICD9:214.4 {source="DOID:10206", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3606 {source="DOID:10206", source="MONDO:equivalentTo"}
xref: SCTID:93162007 {source="DOID:10206", source="MONDO:equivalentTo"}
xref: UMLS:C0153972 {source="MEDGEN:102299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000976 {source="DOID:10206", source="NCIT:C3606"} ! paratesticular lipoma
is_a: MONDO:0005106 {source="DOID:10206", source="MONDO:Redundant", source="NCIT:C3606/inferred"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0005352 ! spermatic cord

[Term]
id: MONDO:0000976
name: paratesticular lipoma
def: "A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range." [NCIT:C6384]
synonym: "paratesticular lipoma" EXACT [NCIT:C6384]
xref: DOID:10207 {source="MONDO:equivalentTo"}
xref: MEDGEN:233310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6384 {source="DOID:10207", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335348 {source="MEDGEN:233310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000383 {source="DOID:10207", source="NCIT:C6384/inferred"} ! benign reproductive system neoplasm
is_a: MONDO:0005106 {source="NCIT:C6384"} ! lipoma

[Term]
id: MONDO:0000977
name: chondroid lipoma
def: "A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females." [NCIT:P378]
xref: DOID:10208 {source="MONDO:equivalentTo"}
xref: ICDO:8862/0 {source="NCIT:C6503"}
xref: MEDGEN:266104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6503 {source="MONDO:equivalentTo", source="DOID:10208"}
xref: SCTID:128746001 {source="DOID:10208"}
xref: SCTID:404065000 {source="MONDO:equivalentTo", source="DOID:10208"}
xref: UMLS:C1266131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266104"}
is_a: MONDO:0005106 {source="DOID:10208", source="NCIT:C6503"} ! lipoma

[Term]
id: MONDO:0000978
name: extrahepatic bile duct lipoma
def: "A rare benign adipose tissue neoplasm of the extrahepatic bile duct." [NCIT:C5854]
synonym: "extrahepatic bile duct lipoma" EXACT [MONDO:patterns/location, NCIT:C5854]
synonym: "lipoma of extrahepatic bile duct" EXACT [NCIT:C5854]
synonym: "lipoma of the extrahepatic bile duct" EXACT [DOID:10209, NCIT:C5854]
xref: DOID:10209 {source="MONDO:equivalentTo"}
xref: MEDGEN:232482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5854 {source="DOID:10209", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333509 {source="MEDGEN:232482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002887 {source="DOID:10209", source="MONDO:Redundant", source="NCIT:C5854/inferred"} ! bile duct disorder
is_a: MONDO:0005106 {source="DOID:10209", source="MONDO:Redundant", source="NCIT:C5854"} ! lipoma
is_a: MONDO:0005304 {source="DOID:10209", source="MONDO:Redundant", source="MONDO:indirect"} ! biliary tract neoplasm
is_a: MONDO:0021385 {source="MONDO:Redundant", source="NCIT:C5854/inferred"} ! extrahepatic bile duct neoplasm
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0000979
name: pinta disease
def: "An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes." [NCIT:C85011]
comment: NCBI Taxonomy appears to lack an entry for T carateum
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="NORD:1580", source="MONDO:NORD"}
subset: rare
synonym: "Azul" RELATED [GARD:0007397]
synonym: "Carate" RELATED [GARD:0007397]
synonym: "Empeines" RELATED [GARD:0007397]
synonym: "endemic treponematosis caused by Treponema carateum" RELATED [GARD:0007397]
synonym: "infection by Treponema carateum" RELATED []
synonym: "Lota" RELATED [GARD:0007397]
synonym: "Mal del pinto" RELATED [GARD:0007397]
synonym: "Pinta" EXACT [NORD:1580]
synonym: "pinta" EXACT [NCIT:C85011]
synonym: "Tina" RELATED [GARD:0007397]
xref: DOID:1022 {source="MONDO:equivalentTo"}
xref: ICD10CM:A67 {source="DOID:1022"}
xref: ICD10CM:A67.0 {source="DOID:1022"}
xref: ICD10CM:A67.1 {source="DOID:1022"}
xref: ICD10CM:A67.2 {source="DOID:1022"}
xref: ICD10CM:A67.3 {source="DOID:1022"}
xref: ICD10CM:A67.9 {source="DOID:1022"}
xref: ICD9:103 {source="DOID:1022"}
xref: ICD9:103.0 {source="DOID:1022"}
xref: ICD9:103.1 {source="DOID:1022"}
xref: ICD9:103.2 {source="DOID:1022"}
xref: ICD9:103.3 {source="DOID:1022"}
xref: ICD9:103.9 {source="DOID:1022", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:45926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010874 {source="DOID:1022", source="MONDO:equivalentTo"}
xref: NCIT:C85011 {source="DOID:1022", source="MONDO:equivalentTo"}
xref: NORD:1580 {source="MONDO:NORD"}
xref: SCTID:186975003 {source="DOID:1022"}
xref: SCTID:186976002 {source="DOID:1022"}
xref: SCTID:187373005 {source="DOID:1022"}
xref: SCTID:22064009 {source="DOID:1022", source="MONDO:equivalentTo"}
xref: SCTID:240685007 {source="DOID:1022"}
xref: SCTID:4669001 {source="DOID:1022"}
xref: SCTID:68131004 {source="DOID:1022"}
xref: SCTID:68202005 {source="DOID:1022"}
xref: SCTID:7251008 {source="DOID:1022"}
xref: SCTID:73594001 {source="DOID:1022"}
xref: UMLS:C0031946 {source="MEDGEN:45926", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:1022"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:1022/inferred", source="MESH:D010874/inferred", source="NCIT:C85011"} ! bacterial infectious disease
is_a: MONDO:0007000 {source="MESH:D010874"} ! Treponema infectious disease
is_a: MONDO:0024295 {source="MESH:D010874"} ! skin disease caused by bacterial infection

[Term]
id: MONDO:0000980
name: aortic atherosclerosis
def: "A atherosclerosis that involves the aorta." [MONDO:patterns/location]
synonym: "aorta atherosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "aortic atherosclerosis" EXACT [DOID:10230, MONDO:ambiguous]
synonym: "aortic atherosclerosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "atherosclerosis of aorta" EXACT [DOID:10230]
xref: DOID:10230 {source="MONDO:equivalentTo"}
xref: HP:0012397 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I70.0 {source="DOID:10230"}
xref: ICD9:440.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10230"}
xref: MEDGEN:510061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155415000 {source="DOID:10230"}
xref: SCTID:195252007 {source="DOID:10230"}
xref: SCTID:81817003 {source="MONDO:equivalentTo", source="DOID:10230"}
xref: UMLS:C0155733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510061"}
is_a: MONDO:0005311 {source="DOID:10230", source="MONDO:Redundant"} ! atherosclerosis
is_a: MONDO:0005561 {source="MONDO:Redundant"} ! aortic disorder
intersection_of: MONDO:0005311 ! atherosclerosis
intersection_of: disease_has_location UBERON:0000947 ! aorta
property_value: IAO:0000589 "aortic atherosclerosis (disease)" xsd:string

[Term]
id: MONDO:0000981
name: Histoplasma pericarditis
def: "An pericarditis (disease) caused by infection with Histoplasma." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acute Histoplasma pericarditis" NARROW [doi:10.1001/archinte.1968.00300070066013]
synonym: "Histoplasma caused pericarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma pericarditis (disease)" EXACT []
synonym: "histoplasmosis pericarditis" EXACT []
synonym: "histoplasmosis with pericarditis" EXACT []
xref: DOID:10234 {source="MONDO:equivalentTo"}
xref: ICD9:115.93 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10234"}
xref: MEDGEN:509241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187059008 {source="MONDO:equivalentTo", source="DOID:10234"}
xref: UMLS:C0153279 {source="MONDO:equivalentTo", source="MEDGEN:509241", source="MONDO:MEDGEN"}
is_a: MONDO:0005904 {source="DOID:10234", source="MONDO:Redundant"} ! pericarditis
is_a: MONDO:0018312 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! histoplasmosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0005904 ! pericarditis
intersection_of: disease_has_infectious_agent NCBITaxon:5036 ! Histoplasma

[Term]
id: MONDO:0000982
name: obsolete Brown's tendon sheath syndrome
is_obsolete: true
replaced_by: MONDO:0014624

[Term]
id: MONDO:0000983
name: exhibitionism
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger." [NCIT:C94352]
xref: DOID:10236 {source="MONDO:equivalentTo"}
xref: ICD10CM:F65.2 {source="DOID:10236", source="MONDO:equivalentTo"}
xref: ICD9:302.4 {source="DOID:10236", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:41913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005084 {source="DOID:10236", source="MONDO:equivalentTo"}
xref: NCIT:C94352 {source="DOID:10236", source="MONDO:equivalentTo"}
xref: SCTID:154907002 {source="DOID:10236"}
xref: SCTID:191781000 {source="DOID:10236"}
xref: SCTID:192514003 {source="DOID:10236"}
xref: SCTID:268763002 {source="DOID:10236"}
xref: SCTID:58349009 {source="DOID:10236", source="MONDO:equivalentTo"}
xref: UMLS:C0015269 {source="MEDGEN:41913", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000596 {source="DOID:10236", source="MESH:D005084"} ! paraphilic disorder

[Term]
id: MONDO:0000984
name: thalassemia
def: "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." [NCIT:P378]
subset: gard_rare {source="GARD:7756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sickle-cell thalassemia with crisis" EXACT [DOID:10241, ICD9CM:282.42]
synonym: "sickle-cell thalassemia without crisis" EXACT [DOID:10241, ICD9CM:282.41]
synonym: "thalassemia Hb-S disease with crisis" EXACT [DOID:10241]
synonym: "thalassemia Hb-S disease without crisis" EXACT [DOID:10241]
xref: DOID:10241 {source="MONDO:equivalentTo"}
xref: EFO:1001996 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7756 {source="MONDO:GARD"}
xref: ICD10CM:D56 {source="MONDO:equivalentTo", source="DOID:10241"}
xref: ICD10CM:D56.9 {source="DOID:10241"}
xref: ICD9:282.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10241"}
xref: ICD9:282.40 {source="DOID:10241"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013789 {source="MONDO:equivalentTo", source="DOID:10241"}
xref: NANDO:2200626 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35069 {source="MONDO:equivalentTo", source="DOID:10241"}
xref: SCTID:154796005 {source="DOID:10241"}
xref: SCTID:191182000 {source="DOID:10241"}
xref: SCTID:191192008 {source="DOID:10241"}
xref: SCTID:191193003 {source="DOID:10241"}
xref: SCTID:267521001 {source="DOID:10241"}
xref: SCTID:267557006 {source="DOID:10241"}
xref: SCTID:40108008 {source="MONDO:equivalentTo", source="DOID:10241"}
xref: SCTID:84188003 {source="DOID:10241"}
xref: UMLS:C0039730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21121"}
is_a: MONDO:0019050 {source="EFO:1001996", source="MESH:D013789", source="NCIT:C35069"} ! inherited hemoglobinopathy
relationship: disease_has_feature MONDO:0003664 {source="ICD10CM:D56-modified"} ! hemolytic anemia
relationship: excluded_subClassOf MONDO:0006025 {source="DOID:10241", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive disease

[Term]
id: MONDO:0000985
name: obsolete ehrlichiosis
is_obsolete: true
replaced_by: MONDO:0016003

[Term]
id: MONDO:0000986
name: pleurisy
def: "Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom." [NCIT:C26860]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of pleura" EXACT []
synonym: "pleura inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pleuritis" EXACT [NCIT:C26860]
xref: DOID:10247 {source="MONDO:equivalentTo"}
xref: EFO:1001825 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:R09.1 {source="MONDO:equivalentTo"}
xref: ICD9:511.8 {source="DOID:10247"}
xref: MEDGEN:10807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010998 {source="MONDO:equivalentTo"}
xref: NCIT:C26860 {source="MONDO:equivalentTo"}
xref: SCTID:196075003 {source="MONDO:equivalentTo"}
xref: UMLS:C0032231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10807"}
is_a: MONDO:0002037 {source="DOID:10247", source="MESH:D010998", source="MONDO:Redundant", source="NCIT:C26860"} ! pleural disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000977 ! pleura
relationship: disease_has_feature HP:0001370 ! Rheumatoid arthritis
relationship: disease_has_feature HP:0001733 ! Pancreatitis
relationship: disease_has_feature HP:0002090 ! Pneumonia
relationship: disease_has_feature HP:0002102 ! Pleuritis
relationship: disease_has_feature HP:0002204 ! Pulmonary embolism
relationship: disease_has_feature HP:0002725 ! Systemic lupus erythematosus

[Term]
id: MONDO:0000987
name: cholesterolosis of gallbladder
def: "A disorder characterized by a change in the gallbladder wall due to excess cholesterol." [Wikipedia:Cholesterolosis_of_gallbladder]
synonym: "strawberry gallbladder" EXACT [DOID:10254, ICD9CM:575.6]
xref: DOID:10254 {source="MONDO:equivalentTo"}
xref: ICD10CM:K82.4 {source="MONDO:equivalentTo", source="DOID:10254"}
xref: ICD9:575.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10254"}
xref: MEDGEN:509042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:61565001 {source="MONDO:equivalentTo", source="DOID:10254"}
xref: UMLS:C0152456 {source="MEDGEN:509042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005281 {source="DOID:10254", source="MONDO:Redundant"} ! gallbladder disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0042632 ! cholesterol homeostasis
intersection_of: disease_has_location UBERON:0004781 ! gallbladder lamina propria

[Term]
id: MONDO:0000988
name: discharging ear
def: "Discharge or drainage of fluid from the ear." [NCIT:P378]
xref: DOID:10261 {source="MONDO:equivalentTo"}
xref: ICD10CM:H92.1 {source="DOID:10261"}
xref: ICD10CM:H92.10 {source="DOID:10261"}
xref: ICD9:388.6 {source="DOID:10261"}
xref: ICD9:388.60 {source="DOID:10261"}
xref: MEDGEN:57608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35199 {source="MONDO:otherHierarchy", source="DOID:10261"}
xref: SCTID:139633004 {source="DOID:10261"}
xref: SCTID:155250006 {source="DOID:10261"}
xref: SCTID:162364004 {source="DOID:10261"}
xref: SCTID:194403000 {source="DOID:10261"}
xref: SCTID:194405007 {source="DOID:10261"}
xref: SCTID:267676003 {source="DOID:10261"}
xref: SCTID:300132001 {source="DOID:10261"}
xref: SCTID:65668001 {source="DOID:10261"}
xref: UMLS:C0155540 {source="MEDGEN:57608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002409 {source="DOID:10261"} ! auditory system disorder

[Term]
id: MONDO:0000989
name: mumps infectious disease
alt_id: MONDO:0005863
def: "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." [NCIT:C29888]
subset: otar {source="MONDO:OTAR"}
synonym: "epidemic parotitis" EXACT [NCIT:C29888]
synonym: "mumps" EXACT [NCIT:C29888]
synonym: "Mumps virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mumps virus disease or disorder" EXACT []
synonym: "Mumps virus infectious disease" EXACT []
synonym: "mumps virus infectious disease" RELATED []
xref: DOID:10264 {source="MONDO:equivalentTo"}
xref: DOID:10304 {source="MONDO:obsolete", source="EFO:0007383"}
xref: EFO:0007383 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B26 {source="MONDO:equivalentTo", source="DOID:10264"}
xref: ICD10CM:B26.9 {source="DOID:10264"}
xref: ICD9:072 {source="DOID:10264"}
xref: MEDGEN:44521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009107 {source="MONDO:equivalentTo", source="DOID:10264"}
xref: MESH:D019351 {source="MONDO:equivalentTo", source="EFO:0007383"}
xref: NCIT:C29888 {source="MONDO:equivalentTo", source="DOID:10264"}
xref: SCTID:154352008 {source="DOID:10264"}
xref: SCTID:186651001 {source="DOID:10264"}
xref: SCTID:186652008 {source="DOID:10264"}
xref: SCTID:240526004 {source="DOID:10264"}
xref: SCTID:36989005 {source="MONDO:equivalentTo", source="DOID:10264"}
xref: UMLS:C0026780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44521"}
is_a: MONDO:0005108 {source="DOID:10264", source="EFO:0007383", source="MESH:D009107/inferred", source="MESH:D019351/inferred", source="NCIT:C29888"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:2560602 ! disease has primary infectious agent Mumps orthorubulavirus
relationship: disease_has_infectious_agent NCBITaxon:2560602 {source="MONDO:Wikidata"} ! Mumps orthorubulavirus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7116/mumps" xsd:anyURI {source="GARD:0007116"}

[Term]
id: MONDO:0000990
name: acute subendocardial myocardial infarction
def: "Acute form of subendocardial myocardial infarction." [MONDO:patterns/acute]
synonym: "acute nontransmural infarction" RELATED []
synonym: "acute subendocardial infarction" EXACT []
synonym: "subendocardial infarction acute myocardial infarction" RELATED [DOID:10266]
synonym: "subendocardial myocardial infarction, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10266 {source="MONDO:equivalentTo"}
xref: ICD9:410.7 {source="DOID:10266"}
xref: ICD9:410.70 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:410.71 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:410.72 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:538778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:70422006 {source="MONDO:equivalentTo"}
xref: UMLS:C0264710 {source="MEDGEN:538778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003674 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! subendocardial myocardial infarction
is_a: MONDO:0004781 {source="DOID:10266", source="MONDO:Redundant"} ! acute myocardial infarction
intersection_of: MONDO:0003674 ! subendocardial myocardial infarction
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0000991
name: obsolete left bundle branch block
def: "OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Left_bundle_branch_block]
synonym: "left bundle branch [block] or [hemiblock]" RELATED [DOID:10272]
synonym: "left bundle branch hemiblock" RELATED [DOID:10272]
xref: DOID:10272 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I44.60 {source="DOID:10272"}
xref: ICD9:426.2 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:10272"}
xref: SCTID:195044001 {source="DOID:10272"}
xref: SCTID:195045000 {source="DOID:10272"}
xref: SCTID:266245009 {source="DOID:10272"}
xref: SCTID:4973001 {source="MONDO:obsoleteEquivalent", source="DOID:10272"}
xref: SCTID:63467002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000423
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2536" xsd:anyURI
is_obsolete: true
consider: HP:0011713

[Term]
id: MONDO:0000992
name: heart conduction disease
def: "A disease that has its basis in the disruption of the heart's electrical conduction system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cardiac conduction disease" EXACT []
synonym: "cardiac conduction disorder" EXACT []
synonym: "conduction disease of heart" EXACT []
synonym: "disease of cardiac conduction" EXACT []
synonym: "disorder of cardiac conduction" EXACT []
synonym: "heart rhythm disease" EXACT [DOID:10273]
xref: DOID:10273 {source="MONDO:equivalentTo"}
xref: ICD9:426.6 {source="DOID:10273"}
xref: SCTID:195053008 {source="DOID:10273"}
xref: SCTID:195056000 {source="DOID:10273"}
xref: SCTID:44808001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="DOID:10273", source="MONDO:Entailed", source="MONDO:Redundant"} ! heart disorder
intersection_of: MONDO:0005267 ! heart disorder
intersection_of: disease_disrupts GO:0061337 ! cardiac conduction

[Term]
id: MONDO:0000993
name: prostate squamous cell carcinoma
def: "An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation." [NCIT:C5536]
synonym: "prostate gland squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "prostate squamous cell carcinoma" EXACT [NCIT:C5536]
synonym: "PRSC" RELATED ABBREVIATION [ONCOTREE:PRSC]
synonym: "squamous cell carcinoma of prostate" EXACT [DOID:10287, NCIT:C5536]
synonym: "squamous cell carcinoma of the prostate" EXACT [DOID:10287, NCIT:C5536]
xref: DOID:10287 {source="MONDO:equivalentTo"}
xref: MEDGEN:226996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5536 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10287"}
xref: ONCOTREE:PRSC {source="MONDO:equivalentTo"}
xref: SCTID:399590005 {source="MONDO:equivalentTo", source="DOID:10287"}
xref: UMLS:C1302530 {source="MEDGEN:226996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:10287", source="MONDO:Redundant", source="NCIT:C5536"} ! squamous cell carcinoma
is_a: MONDO:0005159 {source="DOID:10287", source="MONDO:Redundant", source="NCIT:C5536/inferred"} ! prostate carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0000994
name: malignant prostate phyllodes tumor
def: "An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia." [NCIT:C5531]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant phyllodes neoplasm of prostate" EXACT [NCIT:C5531]
synonym: "malignant phyllodes neoplasm of the prostate" EXACT [DOID:10289, NCIT:C5531]
synonym: "malignant phyllodes tumor of prostate" EXACT [NCIT:C5531]
synonym: "malignant phyllodes tumor of the prostate" EXACT [NCIT:C5531]
synonym: "malignant phyllodes tumour of prostate" EXACT OMO:0003005 []
synonym: "malignant phyllodes tumour of the prostate" EXACT OMO:0003005 []
synonym: "malignant prostate phyllodes neoplasm" EXACT [NCIT:C5531]
synonym: "malignant prostate phyllodes tumor" EXACT [NCIT:C5531]
synonym: "prostate malignant phyllodes tumor" RELATED [DOID:10289]
synonym: "prostate malignant phyllodes tumour" RELATED OMO:0003005 []
xref: DOID:10289 {source="MONDO:equivalentTo"}
xref: MEDGEN:235301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C549759 {source="DOID:10289"}
xref: NCIT:C5531 {source="MONDO:equivalentTo", source="DOID:10289"}
xref: UMLS:C1334615 {source="MEDGEN:235301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DOID:10289", source="MONDO:Redundant", source="NCIT:C5531"} ! prostate cancer
is_a: MONDO:0021102 {source="MONDO:Redundant", source="NCIT:C5531"} ! prostate phyllodes tumor
is_a: MONDO:0037003 {source="MONDO:Redundant", source="NCIT:C5531"} ! malignant phyllodes tumor

[Term]
id: MONDO:0000995
name: familial periodic paralysis
def: "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." [NCIT:C84709]
subset: disease_grouping
subset: gard_rare {source="GARD:21613", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:371433"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial periodic paralyses" RELATED OMO:0003005 []
synonym: "familial periodic paralysis" EXACT [MESH:D010245, NCIT:C84709]
synonym: "familial periodic paralyzes" RELATED [MESH:D010245]
synonym: "genetic periodic paralysis" RELATED [GARD:0006422, Orphanet:371433]
synonym: "hereditary periodic paralysis (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "normokalemic periodic paralyses" RELATED OMO:0003005 []
synonym: "normokalemic periodic paralysis" RELATED [MESH:D010245]
synonym: "normokalemic periodic paralyzes" RELATED [MESH:D010245]
synonym: "paralysis, familial periodic" RELATED [MESH:D010245]
synonym: "paralysis, normokalemic periodic" RELATED [MESH:D010245]
synonym: "paralyzes, normokalemic periodic" RELATED [MESH:D010245]
synonym: "periodic paralysis, familial" RELATED [MESH:D010245]
synonym: "periodic paralysis, normokalemic" RELATED [MESH:D010245]
synonym: "periodic paralyzes, familial" RELATED [MESH:D010245]
synonym: "periodic paralyzes, normokalemic" RELATED [MESH:D010245]
xref: DOID:1029 {source="MONDO:equivalentTo"}
xref: GARD:21613 {source="MONDO:GARD"}
xref: ICD10CM:G72.3 {source="DOID:1029", source="Orphanet:371433"}
xref: MEDGEN:18291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010245 {source="MONDO:equivalentTo", source="DOID:1029"}
xref: NANDO:1200502 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84709 {source="MONDO:equivalentTo", source="DOID:1029"}
xref: Orphanet:371433 {source="MONDO:equivalentTo", source="GARD:0006422"}
xref: SCTID:155099000 {source="DOID:1029"}
xref: SCTID:193241004 {source="DOID:1029"}
xref: SCTID:267607008 {source="MONDO:equivalentTo", source="DOID:1029"}
xref: SCTID:267714003 {source="DOID:1029"}
xref: SCTID:54696002 {source="DOID:1029"}
xref: UMLS:C0030443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18291"}
is_a: MONDO:0004689 {source="DOID:1029", source="MESH:D010245"} ! inborn metal metabolism disorder
is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! nervous system disorder
intersection_of: MONDO:0016122 ! periodic paralysis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0003939 {source="MESH:D010245", source="Orphanet:371433/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! muscle tissue disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis" xsd:anyURI {source="GARD:0006422"}

[Term]
id: MONDO:0000996
name: prostate lymphoma
def: "A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland." [NCIT:C5533]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoma of prostate" EXACT [DOID:10290, NCIT:C5533]
synonym: "lymphoma of prostate gland" EXACT [MONDO:design_pattern]
synonym: "lymphoma of the prostate" EXACT [DOID:10290, NCIT:C5533]
synonym: "primary prostate lymphoma" EXACT [NCIT:C5533]
synonym: "prostate gland lymphoma" EXACT [MONDO:patterns/location]
synonym: "prostate lymphoma" EXACT [NCIT:C5533]
xref: DOID:10290 {source="MONDO:equivalentTo"}
xref: MEDGEN:235500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5533 {source="DOID:10290", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335512 {source="MONDO:equivalentTo", source="MEDGEN:235500", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="DOID:10290", source="MONDO:Redundant", source="NCIT:C5533/inferred"} ! lymphoma
is_a: MONDO:0008315 {source="DOID:10290", source="NCIT:C5533"} ! prostate cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0000997
name: monocular esotropia
def: "A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze." [MESH:D004948]
xref: DOID:10293 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.01 {source="DOID:10293"}
xref: ICD9:378.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10293"}
xref: MEDGEN:57514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004948 {source="DOID:10293"}
xref: SCTID:194075001 {source="DOID:10293"}
xref: SCTID:5455000 {source="MONDO:equivalentTo", source="DOID:10293"}
xref: UMLS:C0152204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57514"}
is_a: MONDO:0004896 {source="DOID:10293"} ! esotropia

[Term]
id: MONDO:0000998
name: obsolete parotid disease
is_obsolete: true
replaced_by: MONDO:0005899

[Term]
id: MONDO:0000999
name: obsolete pneumoconiosis
is_obsolete: true
replaced_by: MONDO:0015926

[Term]
id: MONDO:0001000
name: mixed mineral dust pneumoconiosis
def: "Pneumoconiosis caused by the inhalation of mixed mineral dust particles." [NCIT:C27559]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mineral duct pneumoconiosis" BROAD [https://orcid.org/0000-0002-6601-2165]
synonym: "mineral dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "mixed mineral dust pneumoconiosis" EXACT [NCIT:C27559]
synonym: "pneumoconiosis from mineral dust" EXACT []
xref: DOID:10319 {source="MONDO:equivalentTo"}
xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27559 {source="DOID:10319", source="MONDO:equivalentTo"}
xref: SCTID:233759002 {source="DOID:10319", source="MONDO:equivalentTo"}
xref: UMLS:C0340184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137937"}
is_a: MONDO:0015926 {source="DOID:10319", source="MONDO:Redundant", source="NCIT:C27559"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:02000100 ! mineral dust

[Term]
id: MONDO:0001001
name: baritosis
def: "A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops." [NCIT:C34410]
subset: gard_rare {source="GARD:8371", source="MONDO:GARD"}
subset: rare
synonym: "deposition of barium in the lungs" RELATED [GARD:0008371]
synonym: "inhalation of barytes" RELATED [GARD:0008371]
xref: DOID:10321 {source="MONDO:equivalentTo"}
xref: GARD:8371 {source="MONDO:GARD"}
xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537080 {source="MONDO:equivalentTo", source="DOID:10321"}
xref: NCIT:C34410 {source="MONDO:equivalentTo", source="DOID:10321"}
xref: SCTID:50076003 {source="MONDO:equivalentTo", source="DOID:10321"}
xref: UMLS:C0340177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87399"}
is_a: MONDO:0015926 {source="DOID:10321", source="MESH:C537080", source="MONDO:Redundant", source="NCIT:C34410"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:01001284 ! barium dust
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8371/baritosis" xsd:anyURI {source="GARD:0008371"}

[Term]
id: MONDO:0001002
name: obsolete pulmonary siderosis
is_obsolete: true
replaced_by: MONDO:0008346

[Term]
id: MONDO:0001003
name: pneumoconiosis due to talc
def: "Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "talc pneumoconiosis" EXACT [DOID:10329, NCIT:C27026]
xref: DOID:10329 {source="MONDO:equivalentTo"}
xref: ICD10CM:J62.0 {source="DOID:10329"}
xref: ICD9:502 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:65961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27026 {source="MONDO:equivalentTo", source="DOID:10329"}
xref: SCTID:73144008 {source="MONDO:equivalentTo", source="DOID:10329"}
xref: UMLS:C0238377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65961"}
is_a: MONDO:0015926 {source="DOID:10329", source="MONDO:Redundant", source="NCIT:C27026"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:01001285 ! talc dust

[Term]
id: MONDO:0001004
name: slate pneumoconiosis
def: "Pneumoconiosis caused by exposure to slate dust." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Schistosis" EXACT [DOID:10330]
xref: DOID:10330 {source="MONDO:equivalentTo"}
xref: ICD9:502 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35397 {source="MONDO:equivalentTo", source="DOID:10330"}
xref: SCTID:1259003 {source="MONDO:equivalentTo", source="DOID:10330"}
xref: UMLS:C0340186 {source="MEDGEN:83300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015926 {source="DOID:10330", source="MONDO:Redundant", source="NCIT:C35397"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:01001286 ! slate dust

[Term]
id: MONDO:0001005
name: kaolin pneumoconiosis
def: "Pneumoconiosis caused by inhalation of kaolin dust." [NCIT:P378]
subset: gard_rare {source="GARD:8355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Kaolinosis" EXACT [DOID:10331]
synonym: "simple kaolinosis" RELATED [GARD:0008355]
xref: DOID:10331 {source="MONDO:equivalentTo"}
xref: GARD:8355 {source="MONDO:GARD"}
xref: ICD9:502 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35315 {source="MONDO:equivalentTo", source="DOID:10331"}
xref: SCTID:36696005 {source="MONDO:equivalentTo", source="DOID:10331"}
xref: UMLS:C0264435 {source="MEDGEN:78108", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015926 {source="DOID:10331", source="MONDO:Redundant", source="NCIT:C35315"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:01001288 ! kaolin dust
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis" xsd:anyURI {source="GARD:0008355"}

[Term]
id: MONDO:0001006
name: glaucomatous atrophy of optic disk
synonym: "glaucomatous atrophy [cupping] of optic disc" EXACT OMO:0003005 []
synonym: "glaucomatous atrophy [cupping] of optic disk" EXACT [DOID:10337, ICD9CM:377.14]
xref: DOID:10337 {source="MONDO:equivalentTo"}
xref: ICD10CM:H47.23 {source="DOID:10337"}
xref: ICD9:377.14 {source="DOID:10337", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1207009 {source="DOID:10337", source="MONDO:equivalentTo"}
xref: UMLS:C0271342 {source="MEDGEN:543288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003608 {source="DOID:10337"} ! optic atrophy
is_a: MONDO:0005041 {source="DOID:10337"} ! glaucoma

[Term]
id: MONDO:0001007
name: chronic meningitis
def: "Chronic form of meningitis (disease)." [MONDO:patterns/chronic]
synonym: "chronic meningitis (disease)" EXACT []
synonym: "meningitis (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:10341 {source="MONDO:equivalentTo"}
xref: ICD10CM:G03.1 {source="MONDO:equivalentTo", source="DOID:10341"}
xref: ICD9:322.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10341"}
xref: MEDGEN:509621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21664006 {source="MONDO:equivalentTo", source="DOID:10341"}
xref: UMLS:C0154653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509621"}
intersection_of: MONDO:0021108 ! meningitis
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: excluded_subClassOf MONDO:0004796 {source="DOID:10341", source="https://orcid.org/0000-0001-5208-3432"} ! infectious meningitis

[Term]
id: MONDO:0001008
name: blepharophimosis
def: "The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)" [MESH:D016569]
synonym: "blepharophimosis" EXACT [MONDO:ambiguous]
synonym: "blepharophimosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10348 {source="MONDO:equivalentTo"}
xref: HP:0000581 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H02.52 {source="DOID:10348"}
xref: ICD9:374.46 {source="DOID:10348"}
xref: MEDGEN:2670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016569 {source="DOID:10348", source="MONDO:equivalentTo"}
xref: UMLS:C0005744 {source="MEDGEN:2670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003382 {source="DOID:10348", source="MESH:D016569"} ! eyelid disorder
property_value: IAO:0000589 "blepharophimosis (disease)" xsd:string

[Term]
id: MONDO:0001009
name: solitary cyst of breast
def: "A single, fluid-filled cyst in the breast parenchyma." [NCIT:P378]
synonym: "solitary cyst of breast" EXACT [DOID:10349, ICD9CM:610.0]
synonym: "solitary cyst of the breast" EXACT [DOID:10349, NCIT:C3378]
xref: DOID:10349 {source="MONDO:equivalentTo"}
xref: ICD10CM:N60.0 {source="DOID:10349", source="MONDO:equivalentTo"}
xref: ICD10CM:N60.09 {source="DOID:10349"}
xref: ICD9:610.0 {source="DOID:10349", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:20866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3378 {source="DOID:10349", source="MONDO:otherHierarchy"}
xref: SCTID:198090005 {source="DOID:10349"}
xref: SCTID:266578003 {source="DOID:10349", source="MONDO:equivalentTo"}
xref: SCTID:270538000 {source="DOID:10349"}
xref: UMLS:C0037619 {source="MEDGEN:20866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001011 {source="DOID:10349"} ! breast cyst

[Term]
id: MONDO:0001010
name: obsolete natural killer cell leukemia
is_obsolete: true
replaced_by: MONDO:0019470

[Term]
id: MONDO:0001011
name: breast cyst
def: "A cystic lesion located in breast tissue." [NCIT:P378]
synonym: "cyst of the breast" EXACT [DOID:10350, NCIT:C5315]
xref: DOID:10350 {source="MONDO:equivalentTo"}
xref: ICD10CM:N60.0 {source="DOID:10350"}
xref: MEDGEN:14220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D047688 {source="MONDO:equivalentTo", source="DOID:10350"}
xref: NCIT:C5315 {source="MONDO:otherHierarchy", source="DOID:10350"}
xref: SCTID:270538000 {source="DOID:10350"}
xref: SCTID:399294002 {source="MONDO:equivalentTo", source="DOID:10350"}
xref: SCTID:56726003 {source="DOID:10350"}
xref: UMLS:C0006144 {source="MONDO:equivalentTo", source="MEDGEN:14220", source="MONDO:MEDGEN"}
is_a: MONDO:0000620 {source="DOID:10350"} ! breast benign neoplasm

[Term]
id: MONDO:0001012
name: obsolete breast fibroadenosis
comment: Obsoleting because this is a phenotype.
synonym: "fibroadenosis - breast" EXACT [DOID:10352]
synonym: "fibroadenosis of breast" EXACT [DOID:10352, ICD9CM:610.2]
xref: DOID:10352 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N60.2 {source="MONDO:obsoleteEquivalent", source="DOID:10352"}
xref: ICD9:610.2 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:10352"}
xref: SCTID:198092002 {source="DOID:10352"}
xref: SCTID:23260002 {source="MONDO:obsoleteEquivalent", source="DOID:10352"}
xref: SCTID:270893004 {source="DOID:10352"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/429" xsd:anyURI
is_obsolete: true
consider: HP:0010619

[Term]
id: MONDO:0001013
name: obsolete fibrosclerosis of breast
is_obsolete: true
replaced_by: MONDO:0006118

[Term]
id: MONDO:0001014
name: chronic leukemia
def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult chronic leukaemia" RELATED OMO:0003005 []
synonym: "adult chronic leukemia" RELATED [DOID:1036]
synonym: "chronic leukaemia (disease)" EXACT OMO:0003005 []
synonym: "chronic leukemia" EXACT [NCIT:C3483]
synonym: "chronic leukemia (disease)" EXACT []
synonym: "CLL" RELATED ABBREVIATION [DOID:1036]
synonym: "CML" RELATED ABBREVIATION [DOID:1036]
synonym: "leukaemia (disease), chronic" EXACT OMO:0003005 []
synonym: "leukemia (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:1036 {source="MONDO:equivalentTo"}
xref: ICD9:208.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:220905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3483 {source="DOID:1036", source="MONDO:equivalentTo"}
xref: SCTID:92812005 {source="MONDO:equivalentTo"}
xref: UMLS:C1279296 {source="MEDGEN:220905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005059 {source="DOID:1036", source="MONDO:Redundant", source="NCIT:C3483"} ! leukemia
intersection_of: MONDO:0005059 ! leukemia
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001015
name: eosinophilic meningitis
def: "Meningitis in which eosinophils predominate in the cerebrospinal fluid." [NCIT:C128374]
xref: DOID:10361 {source="MONDO:equivalentTo"}
xref: ICD9:322.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10361"}
xref: MEDGEN:509620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128374 {source="MONDO:equivalentTo"}
xref: SCTID:25671008 {source="MONDO:equivalentTo", source="DOID:10361"}
xref: UMLS:C0154652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509620"}
is_a: MONDO:0001007 {source="DOID:10361"} ! chronic meningitis
is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C128374"} ! meningitis

[Term]
id: MONDO:0001016
name: epididymis cancer
def: "A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site." [NCIT:C3558]
synonym: "cancer of epididymis" EXACT [MONDO:patterns/cancer]
synonym: "epididymis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant epididymal neoplasm" EXACT [NCIT:C3558]
synonym: "malignant epididymal tumor" EXACT [DOID:10366, NCIT:C3558]
synonym: "malignant epididymal tumour" EXACT OMO:0003005 []
synonym: "malignant epididymis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of epididymis" EXACT [DOID:10366, ICD9CM:187.5, MONDO:patterns/cancer, NCIT:C3558]
synonym: "malignant neoplasm of the epididymis" EXACT [NCIT:C3558]
synonym: "malignant tumor of epididymis" EXACT [NCIT:C3558]
synonym: "malignant tumor of the epididymis" EXACT [NCIT:C3558]
synonym: "malignant tumour of epididymis" EXACT OMO:0003005 []
synonym: "malignant tumour of the epididymis" EXACT OMO:0003005 []
xref: DOID:10366 {source="MONDO:equivalentTo"}
xref: ICD10CM:C63.0 {source="DOID:10366"}
xref: ICD9:187.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10366"}
xref: MEDGEN:57792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3558 {source="MONDO:equivalentTo", source="DOID:10366"}
xref: SCTID:363452003 {source="MONDO:equivalentTo", source="DOID:10366"}
xref: SCTID:93783009 {source="DOID:10366"}
xref: UMLS:C0153602 {source="MEDGEN:57792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003283 {source="MONDO:Redundant", source="NCIT:C3558"} ! epididymal neoplasm
is_a: MONDO:0005836 {source="DOID:10366", source="MONDO:Redundant", source="NCIT:C3558"} ! male reproductive organ cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001301 ! epididymis

[Term]
id: MONDO:0001017
name: epididymal adenocarcinoma
def: "A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain." [NCIT:C39957]
synonym: "adenocarcinoma of the epididymis" EXACT [DOID:10368, NCIT:C39957]
synonym: "epididymal adenocarcinoma" EXACT [NCIT:C39957]
synonym: "epididymis adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:10368 {source="MONDO:equivalentTo"}
xref: MEDGEN:307180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39957 {source="DOID:10368", source="MONDO:equivalentTo"}
xref: UMLS:C1510784 {source="MEDGEN:307180", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001016 {source="DOID:10368", source="MONDO:Redundant", source="NCIT:C39957"} ! epididymis cancer
is_a: MONDO:0004970 {source="DOID:10368", source="MONDO:Redundant", source="NCIT:C39957"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001301 ! epididymis

[Term]
id: MONDO:0001018
name: obsolete lymphoblastic leukemia
is_obsolete: true
replaced_by: MONDO:0004967

[Term]
id: MONDO:0001019
name: suppression amblyopia
def: "A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications." [MESH:D000550]
synonym: "strabismic amblyopia" EXACT [DOID:10375, ICD9CM:368.01]
xref: DOID:10375 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.03 {source="DOID:10375"}
xref: ICD9:368.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10375"}
xref: MEDGEN:152911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000550 {source="DOID:10375"}
xref: SCTID:35600002 {source="MONDO:equivalentTo", source="DOID:10375"}
xref: UMLS:C0750903 {source="MEDGEN:152911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001020 {source="DOID:10375"} ! amblyopia

[Term]
id: MONDO:0001020
name: amblyopia
def: "Decreased vision that results from abnormal visual development." [NCIT:C118764]
subset: otar {source="MONDO:OTAR"}
synonym: "amblyopia" EXACT [MONDO:ambiguous]
synonym: "amblyopia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "lazy eye" RELATED [NCIT:C118764]
xref: CSP:1114-9655 {source="DOID:10376"}
xref: DOID:10376 {source="MONDO:equivalentTo"}
xref: HP:0000646 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H53.00 {source="DOID:10376"}
xref: ICD9:368.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10376"}
xref: MEDGEN:8009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000550 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10376"}
xref: NCIT:C118764 {source="NCIT:C118764", source="MONDO:equivalentTo", source="DOID:10376"}
xref: SCTID:111517004 {source="DOID:10376"}
xref: SCTID:155145007 {source="DOID:10376"}
xref: SCTID:193637007 {source="DOID:10376"}
xref: SCTID:267627009 {source="DOID:10376"}
xref: SCTID:267726008 {source="DOID:10376"}
xref: SCTID:387742006 {source="MONDO:equivalentTo", source="DOID:10376"}
xref: UMLS:C0002418 {source="MONDO:equivalentTo", source="MEDGEN:8009", source="MONDO:MEDGEN"}
is_a: MONDO:0021084 {source="NCIT:C118764", source="NCIT:C118764/inferred"} ! vision disorder
property_value: IAO:0000589 "amblyopia (disease)" xsd:string

[Term]
id: MONDO:0001021
name: ametropic amblyopia
synonym: "refractive amblyopia" EXACT [DOID:10377, ICD9CM:368.03]
xref: DOID:10377 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.02 {source="DOID:10377"}
xref: ICD9:368.03 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10377"}
xref: MEDGEN:508919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:90927000 {source="MONDO:equivalentTo", source="DOID:10377"}
xref: UMLS:C0152190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508919"}
is_a: MONDO:0001020 {source="DOID:10377"} ! amblyopia

[Term]
id: MONDO:0001022
name: disuse amblyopia
synonym: "deprivation amblyopia" EXACT [DOID:10378, ICD9CM:368.02]
xref: DOID:10378 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.01 {source="DOID:10378"}
xref: ICD9:368.02 {source="DOID:10378", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193638002 {source="DOID:10378", source="MONDO:equivalentTo"}
xref: SCTID:21457000 {source="DOID:10378"}
xref: UMLS:C0152189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508918"}
is_a: MONDO:0001020 {source="DOID:10378"} ! amblyopia

[Term]
id: MONDO:0001023
name: prolymphocytic leukemia
def: "A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen." [NCIT:C3181]
subset: gard_rare {source="GARD:11965", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PLL" EXACT ABBREVIATION [NCIT:C3181]
synonym: "prolymphocytic leukaemia (B or T)" EXACT OMO:0003005 []
synonym: "prolymphocytic leukaemia (B or T-cell)" EXACT OMO:0003005 []
synonym: "prolymphocytic leukemia" EXACT [NCIT:C3181]
synonym: "prolymphocytic leukemia (B or T)" EXACT [NCIT:C3181]
synonym: "prolymphocytic leukemia (B or T-cell)" EXACT [NCIT:C3181]
xref: DOID:1039 {source="MONDO:equivalentTo"}
xref: GARD:11965 {source="MONDO:GARD"}
xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9832/3 {source="NCIT:C3181"}
xref: MEDGEN:6062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015463 {source="MONDO:equivalentTo", source="DOID:1039"}
xref: NCIT:C3181 {source="MONDO:equivalentTo", source="DOID:1039", source="MONDO:exact-label-match"}
xref: SCTID:10300002 {source="DOID:1039"}
xref: SCTID:110006004 {source="MONDO:equivalentTo", source="DOID:1039"}
xref: SCTID:128923008 {source="DOID:1039"}
xref: UMLS:C0023486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6062"}
is_a: MONDO:0001014 {source="NCIT:C3181"} ! chronic leukemia
is_a: MONDO:0004967 {source="DOID:1039/inferred", source="MONDO:Redundant", source="NCIT:C3181"} ! acute lymphoblastic leukemia
is_a: MONDO:0005402 {source="MESH:D015463", source="NCIT:C3181"} ! lymphoid leukemia

[Term]
id: MONDO:0001024
name: pneumonic plague
def: "A plague in which the bacteria have infected the lungs." [https://www.healthline.com/health/plague#types]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "primary pneumonic plague" NARROW [DOID:10398]
synonym: "secondary pneumonic plague" NARROW [DOID:10398]
xref: DOID:10398 {source="MONDO:equivalentTo"}
xref: ICD10CM:A20.2 {source="MONDO:equivalentTo", source="DOID:10398"}
xref: ICD9:020.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10398"}
xref: ICD9:020.4 {source="DOID:10398"}
xref: ICD9:020.5 {source="DOID:10398"}
xref: MEDGEN:105580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010930 {source="DOID:10398"}
xref: SCTID:186283004 {source="DOID:10398"}
xref: SCTID:35339003 {source="MONDO:equivalentTo", source="DOID:10398"}
xref: SCTID:38976008 {source="DOID:10398"}
xref: SCTID:67525007 {source="DOID:10398"}
xref: UMLS:C0524688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105580"}
is_a: MONDO:0019095 {source="DOID:10398", source="ICD10CM:A20.2", source="MONDO:Redundant"} ! plague
intersection_of: MONDO:0019095 ! plague
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0001025
name: seminal vesicle chronic gonorrhea
def: "Chronic form of gonococcal seminal vesiculitis." [MONDO:patterns/chronic]
synonym: "chronic gonococcal seminal vesiculitis" EXACT [MONDO:design_pattern]
synonym: "gonococcal seminal vesiculitis, chronic" EXACT [DOID:10399, ICD9CM:098.34, MONDO:patterns/chronic]
xref: DOID:10399 {source="MONDO:equivalentTo"}
xref: ICD9:098.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10399"}
xref: MEDGEN:509202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:23975003 {source="MONDO:equivalentTo", source="DOID:10399"}
xref: UMLS:C0153205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509202"}
is_a: MONDO:0001027 {source="DOID:10399", source="MONDO:Redundant"} ! gonococcal seminal vesiculitis
intersection_of: MONDO:0001027 ! gonococcal seminal vesiculitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001026
name: obsolete bacterial infectious disease
def: "OBSOLETE. A infectious disease involving the Bacteria." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Bacteria infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "infections, Bacteria" RELATED [MONDO:patterns/infectious_disease_by_agent]
is_obsolete: true
replaced_by: MONDO:0005113

[Term]
id: MONDO:0001027
name: gonococcal seminal vesiculitis
def: "A gonorrhea that involves the seminal vesicle." [MONDO:patterns/location]
synonym: "gonococcal seminal vesiculitis (acute)" EXACT [DOID:10400, ICD9CM:098.14]
synonym: "gonorrhea of seminal vesicle" EXACT [DOID:10400]
synonym: "gonorrhoea of seminal vesicle" EXACT OMO:0003005 []
synonym: "seminal vesicle gonorrhea" EXACT [MONDO:patterns/location]
synonym: "seminal vesicle gonorrhoea" EXACT OMO:0003005 []
xref: DOID:10400 {source="MONDO:equivalentTo"}
xref: MEDGEN:662073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:301990003 {source="DOID:10400", source="MONDO:equivalentTo"}
xref: UMLS:C0578661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:662073"}
is_a: MONDO:0004277 {source="DOID:10400", source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0004767 {source="DOID:10400", source="MONDO:Redundant"} ! vesiculitis
intersection_of: MONDO:0004277 ! gonorrhea
intersection_of: disease_has_inflammation_site UBERON:0000998 ! seminal vesicle

[Term]
id: MONDO:0001028
name: acute pericementitis
def: "An acute inflammatory process that affects the tissues that surround and support the teeth." [NCIT:P378]
synonym: "acute periodontitis" EXACT [DOID:10423, ICD9CM:523.3, NCIT:C34354]
synonym: "periodontitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10423 {source="MONDO:equivalentTo"}
xref: ICD9:523.3 {source="DOID:10423"}
xref: ICD9:523.33 {source="DOID:10423"}
xref: MEDGEN:1319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34354 {source="DOID:10423", source="MONDO:equivalentTo"}
xref: SCTID:155646007 {source="DOID:10423"}
xref: SCTID:196361004 {source="DOID:10423"}
xref: SCTID:196362006 {source="DOID:10423"}
xref: SCTID:196364007 {source="DOID:10423"}
xref: SCTID:21638000 {source="DOID:10423", source="MONDO:equivalentTo"}
xref: UMLS:C0001342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1319"}
is_a: MONDO:0005076 {source="DOID:10423", source="MONDO:Redundant", source="NCIT:C34354"} ! periodontitis
intersection_of: MONDO:0005076 ! periodontitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001029
name: Klippel-Feil syndrome
def: "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy." [https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome]
comment: Usage notes: this class includes both isolated forms and forms that are features of other syndromes
subset: gard_rare {source="GARD:10280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2345"}
subset: orphanet_rare {source="Orphanet:2345"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Klippel-Feil syndrome" RELATED [DOID:10426]
synonym: "cervical vertebral fusion" RELATED [GARD:0010280]
synonym: "congenital dystrophia brevicollis" RELATED [DOID:10426]
synonym: "congenital synostosis of cervical vertebrae" RELATED [DOID:10426]
synonym: "Klippel Feil syndrome" RELATED [GARD:0010280]
synonym: "Klippel-Feil and Turner syndrome" RELATED [DOID:10426]
synonym: "Klippel-Feil deformity, deafness and facial asymmetry" RELATED [DOID:10426]
synonym: "Klippel-Feil Sequence" EXACT [NCIT:C98967]
xref: DOID:10426 {source="MONDO:equivalentTo"}
xref: GARD:10280 {source="MONDO:GARD"}
xref: ICD10CM:Q76.1 {source="DOID:10426", source="MONDO:equivalentTo"}
xref: ICD9:756.16 {source="DOID:10426", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007714 {source="DOID:10426", source="MONDO:equivalentTo"}
xref: NCIT:C98967 {source="DOID:10426", source="MONDO:equivalentTo"}
xref: OMIMPS:118100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2345 {source="DOID:10426", source="MONDO:equivalentTo"}
xref: SCTID:129581007 {source="DOID:10426"}
xref: SCTID:157003009 {source="DOID:10426"}
xref: SCTID:205441002 {source="DOID:10426"}
xref: SCTID:268349005 {source="DOID:10426"}
xref: SCTID:388981000 {source="DOID:10426"}
xref: SCTID:5601008 {source="DOID:10426", source="MONDO:equivalentTo"}
xref: UMLS:C0022738 {source="MEDGEN:9645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:118100"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome" xsd:anyURI {source="GARD:0010280"}

[Term]
id: MONDO:0001030
name: keratoconus, stable condition
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "stable condition keratoconus" EXACT [DOID:10428]
xref: DOID:10428 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.61 {source="DOID:10428"}
xref: ICD9:371.61 {source="MONDO:equivalentTo", source="DOID:10428", source="MONDO:i2s"}
xref: MEDGEN:509801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193844000 {source="MONDO:equivalentTo", source="DOID:10428"}
xref: SCTID:75253008 {source="DOID:10428"}
xref: UMLS:C0155131 {source="MEDGEN:509801", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015486 {source="DOID:10428"} ! keratoconus

[Term]
id: MONDO:0001031
name: purulent acute otitis media
def: "Acute form of suppurative otitis media." [MONDO:patterns/acute]
synonym: "acute suppurative otitis media" EXACT [MONDO:design_pattern]
synonym: "suppurative otitis media, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10435 {source="MONDO:equivalentTo"}
xref: ICD9:382.02 {source="DOID:10435"}
xref: MEDGEN:543338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194281003 {source="MONDO:equivalentTo"}
xref: UMLS:C0271431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543338"}
is_a: MONDO:0005975 {source="DOID:10435", source="MONDO:Redundant"} ! suppurative otitis media
intersection_of: MONDO:0005975 ! suppurative otitis media
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001032
name: Mooren ulcer
subset: gard_rare {source="GARD:22132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519408"}
subset: orphanet_rare {source="Orphanet:519408"}
subset: rare
synonym: "Mooren's ulcer" EXACT [DOID:10439]
xref: DOID:10439 {source="MONDO:equivalentTo"}
xref: GARD:22132 {source="MONDO:GARD"}
xref: ICD10CM:H16.05 {source="DOID:10439"}
xref: ICD9:370.07 {source="MONDO:equivalentTo", source="DOID:10439", source="MONDO:i2s"}
xref: MEDGEN:509770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519408 {source="MONDO:equivalentTo"}
xref: SCTID:22440001 {source="MONDO:equivalentTo", source="DOID:10439"}
xref: UMLS:C0155072 {source="MEDGEN:509770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004577 {source="DOID:10439"} ! corneal ulcer

[Term]
id: MONDO:0001033
name: mycotic corneal ulcer
xref: DOID:10440 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.06 {source="DOID:10440"}
xref: ICD9:370.05 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10440"}
xref: MEDGEN:509769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:397977001 {source="MONDO:equivalentTo", source="DOID:10440"}
xref: SCTID:59939007 {source="DOID:10440"}
xref: UMLS:C0155071 {source="MEDGEN:509769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004577 {source="DOID:10440"} ! corneal ulcer

[Term]
id: MONDO:0001034
name: marginal corneal ulcer
xref: DOID:10441 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.04 {source="DOID:10441"}
xref: ICD9:370.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10441"}
xref: MEDGEN:509765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:47398006 {source="MONDO:equivalentTo", source="DOID:10441"}
xref: UMLS:C0155067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509765"}
is_a: MONDO:0004577 {source="DOID:10441"} ! corneal ulcer

[Term]
id: MONDO:0001035
name: hypopyon ulcer
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:10442 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.03 {source="DOID:10442"}
xref: ICD9:370.04 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10442"}
xref: MEDGEN:509768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193762002 {source="DOID:10442"}
xref: SCTID:267633000 {source="DOID:10442"}
xref: SCTID:6395007 {source="MONDO:equivalentTo", source="DOID:10442"}
xref: UMLS:C0155070 {source="MEDGEN:509768", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001036 {source="DOID:10442"} ! hypopyon

[Term]
id: MONDO:0001036
name: hypopyon
def: "An accumulation of pus in the anterior chamber of the eye." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:10443 {source="MONDO:equivalentTo"}
xref: ICD10CM:H20.05 {source="DOID:10443"}
xref: ICD9:364.05 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10443"}
xref: MEDGEN:43802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C50593 {source="MONDO:equivalentTo", source="DOID:10443"}
xref: SCTID:87807004 {source="MONDO:equivalentTo", source="DOID:10443"}
xref: UMLS:C0020641 {source="MEDGEN:43802", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004773 {source="DOID:10443"} ! iridocyclitis
is_a: MONDO:0043885 {source="NCIT:C50593"} ! eye infectious disorder

[Term]
id: MONDO:0001037
name: ring corneal ulcer
xref: DOID:10444 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.02 {source="DOID:10444"}
xref: ICD9:370.02 {source="DOID:10444", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111520007 {source="DOID:10444", source="MONDO:equivalentTo"}
xref: SCTID:193760005 {source="DOID:10444"}
xref: UMLS:C0155068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509766"}
is_a: MONDO:0004577 {source="DOID:10444"} ! corneal ulcer

[Term]
id: MONDO:0001038
name: perforated corneal ulcer
xref: DOID:10445 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.07 {source="DOID:10445"}
xref: ICD9:370.06 {source="DOID:10445", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:46606001 {source="DOID:10445", source="MONDO:equivalentTo"}
xref: UMLS:C0151844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508831"}
is_a: MONDO:0004577 {source="DOID:10445"} ! corneal ulcer

[Term]
id: MONDO:0001039
name: tonsillitis
def: "Inflammation of the tonsillar tissue." [NCIT:P378]
synonym: "chronic tonsillitis" EXACT [DOID:10456]
synonym: "inflammation of tonsil" EXACT []
synonym: "throat infection - tonsillitis" EXACT [DOID:10456]
synonym: "tonsil inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "tonsilitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10456 {source="MONDO:equivalentTo"}
xref: ICD10CM:J35.01 {source="DOID:10456", source="MONDO:equivalentTo"}
xref: ICD9:474.00 {source="DOID:10456", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1781351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014069 {source="DOID:10456", source="MONDO:equivalentTo"}
xref: NCIT:C116006 {source="DOID:10456", source="MONDO:equivalentTo"}
xref: SCTID:155530006 {source="DOID:10456"}
xref: SCTID:195665006 {source="DOID:10456"}
xref: SCTID:195794009 {source="DOID:10456"}
xref: SCTID:90176007 {source="DOID:10456"}
xref: SCTID:90979004 {source="DOID:10456", source="MONDO:equivalentTo"}
xref: UMLS:C0740402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781351"}
is_a: MONDO:0004867 {source="DOID:10456"} ! upper respiratory tract disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002372 ! tonsil
relationship: disease_has_feature HP:0011110 ! Recurrent tonsillitis

[Term]
id: MONDO:0001040
name: nasopharyngitis
def: "An inflammatory process that affects the nasopharynx." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic nasopharyngitis" EXACT [DOID:10460]
synonym: "inflammation of nasopharynx" EXACT []
synonym: "nasopharynx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10460 {source="MONDO:equivalentTo"}
xref: ICD10CM:J00 {source="DOID:10460"}
xref: ICD10CM:J31.1 {source="DOID:10460"}
xref: ICD9:472.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10460"}
xref: MEDGEN:6527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009304 {source="MONDO:equivalentTo", source="DOID:10460"}
xref: NCIT:C34837 {source="MONDO:equivalentTo", source="DOID:10460"}
xref: SCTID:155524006 {source="DOID:10460"}
xref: SCTID:47841006 {source="MONDO:equivalentTo", source="DOID:10460"}
xref: SCTID:51476001 {source="DOID:10460"}
xref: UMLS:C0027441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6527"}
is_a: MONDO:0004821 {source="DOID:10460", source="MESH:D009304", source="MONDO:Redundant", source="NCIT:C34837"} ! nasopharyngeal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0001041
name: dentin caries
def: "A dental caries that involves the dentine." [MONDO:patterns/location]
synonym: "compound dental caries" EXACT [DOID:10461]
synonym: "dental caries extending into dentine" EXACT [DOID:10461, ICD9CM:521.02]
synonym: "dental caries of dentine" EXACT [MONDO:design_pattern]
synonym: "dentin caries, NOS" RELATED EXCLUDE [DOID:10461]
synonym: "dentine dental caries" EXACT [MONDO:patterns/location]
xref: DOID:10461 {source="MONDO:equivalentTo"}
xref: ICD9:521.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10461"}
xref: MEDGEN:540210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:442551007 {source="MONDO:equivalentTo", source="DOID:10461"}
xref: SCTID:44828002 {source="DOID:10461"}
xref: SCTID:50047001 {source="DOID:10461"}
xref: UMLS:C0266846 {source="MEDGEN:540210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005276 {source="DOID:10461", source="ICD10CM:K02.1", source="MONDO:Redundant"} ! dental caries
intersection_of: MONDO:0005276 ! dental caries
intersection_of: disease_has_location UBERON:0001751 ! dentine

[Term]
id: MONDO:0001042
name: patellar tendinitis
def: "A tendinitis that involves the patella." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "patella tendinitis" EXACT [MONDO:patterns/location]
synonym: "patellar tendonitis" EXACT [DOID:10471]
synonym: "tendinitis of patella" EXACT [MONDO:design_pattern]
xref: DOID:10471 {source="MONDO:equivalentTo"}
xref: ICD10CM:M76.5 {source="MONDO:equivalentTo", source="DOID:10471"}
xref: ICD10CM:M76.50 {source="DOID:10471"}
xref: ICD9:726.64 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10471"}
xref: MEDGEN:510513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156662006 {source="DOID:10471"}
xref: SCTID:268089006 {source="DOID:10471"}
xref: SCTID:37785001 {source="MONDO:equivalentTo", source="DOID:10471"}
xref: UMLS:C0158317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510513"}
is_a: MONDO:0004857 {source="DOID:10471", source="MONDO:Redundant"} ! tendinitis
intersection_of: MONDO:0004857 ! tendinitis
intersection_of: disease_has_location UBERON:0002446 ! patella

[Term]
id: MONDO:0001043
name: obsolete diaphragm disease
is_obsolete: true
replaced_by: MONDO:0005728

[Term]
id: MONDO:0001044
name: esophageal atresia
def: "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." [NCIT:P378]
synonym: "congenital atresia of esophagus" EXACT [DOID:10485]
synonym: "congenital atresia of oesophagus" EXACT OMO:0003005 []
synonym: "congenital esophageal atresia" EXACT [NCIT:C87072]
synonym: "congenital imperforate esophagus" EXACT [DOID:10485]
synonym: "congenital imperforate oesophagus" EXACT OMO:0003005 []
synonym: "esophageal atresia" EXACT [MONDO:ambiguous]
synonym: "esophageal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "imperforate esophagus" EXACT [DOID:10485]
synonym: "imperforate oesophagus" EXACT OMO:0003005 []
synonym: "oesophageal atresia" EXACT [DOID:10485]
xref: DOID:10485 {source="MONDO:equivalentTo"}
xref: HP:0002032 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q39.0 {source="DOID:10485"}
xref: ICD9:750.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004933 {source="MONDO:equivalentTo", source="DOID:10485"}
xref: NCIT:C87072 {source="MONDO:equivalentTo", source="DOID:10485"}
xref: SCTID:156947007 {source="DOID:10485"}
xref: SCTID:204656005 {source="DOID:10485"}
xref: SCTID:26179002 {source="MONDO:equivalentTo", source="DOID:10485"}
xref: UMLS:C0014850 {source="MEDGEN:4545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="DOID:10485", source="MESH:D004933", source="NCIT:C87072/inferred"} ! esophageal disorder
property_value: IAO:0000589 "esophageal atresia (disease)" xsd:string

[Term]
id: MONDO:0001045
name: intestinal atresia
def: "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "atresia of the intestine" EXACT [NCIT:C84790]
synonym: "congenital intestinal atresia" EXACT [NCIT:C84790]
synonym: "intestinal atresia" EXACT [MONDO:ambiguous]
synonym: "intestinal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10486 {source="MONDO:equivalentTo"}
xref: HP:0011100 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q41.1 {source="DOID:10486"}
xref: MEDGEN:7129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007409 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10486"}
xref: NCIT:C84790 {source="MONDO:equivalentTo", source="DOID:10486"}
xref: UMLS:C0021828 {source="MONDO:equivalentTo", source="MEDGEN:7129", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:10486", source="NCIT:C84790/inferred"} ! intestinal disorder
property_value: IAO:0000589 "intestinal atresia (disease)" xsd:string

[Term]
id: MONDO:0001046
name: imperforate anus
def: "A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities." [NCIT:P378]
subset: gard_rare {source="GARD:6769", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1299"}
subset: rare
synonym: "anal atresia" EXACT [DOID:10488, NCIT:C84784]
synonym: "anal stenosis" RELATED [GARD:0006769]
synonym: "anorectal malformations" RELATED [GARD:0006769]
synonym: "anus, imperforate" EXACT [OMIM:207500, OMIM:301800]
synonym: "congenital atresia of anus" EXACT [DOID:10488]
synonym: "congenital or infantile occlusion of anus" EXACT [DOID:10488]
synonym: "imperforate anus" EXACT [DOID:10488, NCIT:C84784]
xref: DOID:10488 {source="MONDO:equivalentTo"}
xref: GARD:6769 {source="MONDO:GARD"}
xref: ICD10CM:Q42.3 {source="DOID:10488"}
xref: MEDGEN:1997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001006 {source="DOID:10488", source="MONDO:equivalentTo"}
xref: NCIT:C84784 {source="DOID:10488", source="MONDO:equivalentTo"}
xref: NORD:1299 {source="MONDO:NORD"}
xref: OMIM:207500 {source="DOID:10488", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:301800 {source="DOID:10488", source="MONDO:equivalentTo"}
xref: Orphanet:557 {source="OMIM:207500", source="OMIM:301800"}
xref: SCTID:14118000 {source="DOID:10488"}
xref: SCTID:156956004 {source="DOID:10488"}
xref: SCTID:204712000 {source="DOID:10488"}
xref: SCTID:204731006 {source="DOID:10488", source="MONDO:equivalentTo"}
xref: SCTID:204733009 {source="DOID:10488"}
xref: UMLS:C0003466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1997"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0002023 ! Anal atresia
relationship: disease_has_location UBERON:0001245 ! anus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0001047
name: obsolete adrenal cortical hypofunction
is_obsolete: true
replaced_by: MONDO:0000004

[Term]
id: MONDO:0001048
name: orbital granuloma
def: "A granuloma located on the orbit of the eye." [NCIT:P378]
xref: DOID:10499 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.11 {source="DOID:10499"}
xref: ICD9:376.11 {source="DOID:10499", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3653 {source="DOID:10499", source="MONDO:otherHierarchy"}
xref: SCTID:194008000 {source="DOID:10499"}
xref: SCTID:72776003 {source="DOID:10499", source="MONDO:equivalentTo"}
xref: UMLS:C0155262 {source="MEDGEN:102330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001849 {source="DOID:10499"} ! chronic orbital inflammation

[Term]
id: MONDO:0001049
name: Dressler syndrome
def: "A pericarditis characterized by inflammation, occurring after injury, located in pericardium." [DOID:10507, http://en.wikipedia.org/wiki/Dressler%27s_syndrome, http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307]
comment: Editor note: TODO
synonym: "Dressler syndrome" EXACT [DOID:10507]
synonym: "Dressler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "postmyocardial infarction syndrome" EXACT [DOID:10507, ICD9CM:411.0]
xref: DOID:10507 {source="MONDO:equivalentTo"}
xref: ICD10CM:I24.1 {source="MONDO:equivalentTo", source="DOID:10507"}
xref: ICD9:411.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10507"}
xref: MEDGEN:508890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:66189004 {source="MONDO:equivalentTo", source="DOID:10507"}
xref: UMLS:C0152107 {source="MEDGEN:508890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005904 {source="DOID:10507"} ! pericarditis

[Term]
id: MONDO:0001050
name: malignant otitis externa
def: "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." [DOID:10516, http://www.merck.com/mmhe/sec19/ch219/ch219c.html, http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm]
xref: DOID:10516 {source="MONDO:equivalentTo"}
xref: ICD10CM:H60.2 {source="MONDO:equivalentTo", source="DOID:10516"}
xref: ICD10CM:H60.20 {source="DOID:10516"}
xref: ICD9:380.14 {source="MONDO:equivalentTo", source="DOID:10516", source="MONDO:i2s"}
xref: MEDGEN:509950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194206006 {source="DOID:10516"}
xref: SCTID:94146005 {source="MONDO:equivalentTo", source="DOID:10516"}
xref: UMLS:C0155395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509950"}
is_a: MONDO:0004795 {source="DOID:10516", source="ICD10CM:H60.2"} ! otitis externa

[Term]
id: MONDO:0001051
name: acute otitis externa
def: "Acute form of otitis externa." [MONDO:design_pattern]
synonym: "acute bacterial inflammation of external ear" EXACT [DOID:10518]
synonym: "acute otitis externa" EXACT [UMLS:C0149948]
synonym: "acute otitis externa, diffuse" EXACT [DOID:10518]
synonym: "acute swimmer's ear" EXACT [DOID:10518]
synonym: "acute swimmers' ear" EXACT [DOID:10518, ICD9CM:380.12]
synonym: "beach ear" EXACT [DOID:10518]
synonym: "otitis externa, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
synonym: "tank ear" EXACT [DOID:10518]
xref: DOID:10518 {source="MONDO:equivalentTo"}
xref: ICD9:380.12 {source="DOID:10518"}
xref: MEDGEN:508459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194201001 {source="DOID:10518"}
xref: SCTID:30250000 {source="MONDO:equivalentTo", source="DOID:10518", source="UMLS:C0149948"}
xref: SCTID:39149004 {source="DOID:10518"}
xref: UMLS:C0149948 {source="MEDGEN:508459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004795 {source="DOID:10518", source="MONDO:Redundant"} ! otitis externa
intersection_of: MONDO:0004795 ! otitis externa
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001052
name: chronic fungal otitis externa
def: "Chronic form of otomycosis." [MONDO:patterns/chronic]
synonym: "chronic mycotic otitis externa" EXACT [DOID:10519, ICD9CM:380.15]
synonym: "chronic otomycosis" EXACT [MONDO:design_pattern]
synonym: "otomycosis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: DOID:10519 {source="MONDO:equivalentTo"}
xref: ICD9:380.15 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10519"}
xref: MEDGEN:509951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111898002 {source="MONDO:equivalentTo", source="DOID:10519"}
xref: SCTID:194209004 {source="DOID:10519"}
xref: UMLS:C0155396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509951"}
is_a: MONDO:0000262 {source="DOID:10519", source="MONDO:Redundant"} ! otomycosis
intersection_of: MONDO:0000262 ! otomycosis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001053
name: acute infection of pinna
def: "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species." [DOID:10520, http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false]
xref: DOID:10520 {source="MONDO:equivalentTo"}
xref: ICD9:380.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10520"}
xref: MEDGEN:509948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:56663002 {source="MONDO:equivalentTo", source="DOID:10520"}
xref: UMLS:C0155392 {source="MEDGEN:509948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004795 {source="DOID:10520"} ! otitis externa
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001054
name: double pterygium
xref: DOID:10525 {source="MONDO:equivalentTo"}
xref: ICD9:372.44 {source="DOID:10525", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193883003 {source="DOID:10525"}
xref: SCTID:41564009 {source="DOID:10525", source="MONDO:equivalentTo"}
xref: UMLS:C0155157 {source="MEDGEN:509817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005085 {source="DOID:10525"} ! pterygium

[Term]
id: MONDO:0001055
name: conjunctival pterygium
synonym: "web eye" EXACT [DOID:10526]
xref: DOID:10526 {source="MONDO:equivalentTo"}
xref: MEDGEN:1625284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4520843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625284"}
is_a: MONDO:0000949 {source="DOID:10526"} ! conjunctival degeneration
is_a: MONDO:0005085 {source="DOID:10526"} ! pterygium

[Term]
id: MONDO:0001056
name: gastric cancer
def: "A primary or metastatic malignant neoplasm involving the stomach." [NCIT:C9331]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca body - stomach" NARROW [DOID:10534]
synonym: "ca greater curvature of stomach" NARROW [DOID:10534]
synonym: "Ca lesser curvature - stomach" EXACT [DOID:10534]
synonym: "cancer of stomach" EXACT [MONDO:patterns/cancer]
synonym: "gastric cancer" EXACT [DOID:10534]
synonym: "gastric cancer risk after h. pylori infection" EXACT [OMIM:613659, OMIM:genemap2]
synonym: "gastric cancer, intestinal" RELATED [OMIM:613659]
synonym: "gastric cancer, somatic" EXACT [OMIM:613659, OMIM:genemap2]
synonym: "gastric neoplasm" BROAD [DOID:10534, NCIT:C3387]
synonym: "malignant gastric neoplasm" EXACT [NCIT:C9331]
synonym: "malignant gastric tumor" EXACT [NCIT:C9331]
synonym: "malignant gastric tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of body of stomach" NARROW [DOID:10534]
synonym: "malignant neoplasm of lesser curve of stomach" EXACT [DOID:10534]
synonym: "malignant neoplasm of stomach" EXACT [MONDO:patterns/cancer, NCIT:C9331]
synonym: "malignant neoplasm of the stomach" EXACT [NCIT:C9331]
synonym: "malignant stomach neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of body of stomach" EXACT [DOID:10534]
synonym: "malignant tumor of greater curve of stomach" EXACT [DOID:10534]
synonym: "malignant tumor of lesser curve of stomach" EXACT [DOID:10534]
synonym: "malignant tumor of stomach" EXACT [NCIT:C9331]
synonym: "malignant tumor of the stomach" EXACT [NCIT:C9331]
synonym: "malignant tumour of body of stomach" EXACT OMO:0003005 []
synonym: "malignant tumour of greater curve of stomach" EXACT OMO:0003005 []
synonym: "malignant tumour of lesser curve of stomach" EXACT OMO:0003005 []
synonym: "malignant tumour of stomach" EXACT OMO:0003005 []
synonym: "malignant tumour of the stomach" EXACT OMO:0003005 []
synonym: "stomach cancer" EXACT [MONDO:patterns/location]
xref: DOID:10534 {source="MONDO:equivalentTo"}
xref: ICD10CM:C16 {source="DOID:10534", source="MONDO:equivalentTo"}
xref: ICD10CM:C16.2 {source="DOID:10534"}
xref: ICD10CM:C16.5 {source="DOID:10534"}
xref: ICD10CM:C16.6 {source="DOID:10534"}
xref: ICD10CM:C16.9 {source="DOID:10534"}
xref: ICD9:151 {source="DOID:10534"}
xref: ICD9:151.4 {source="DOID:10534"}
xref: ICD9:151.5 {source="DOID:10534"}
xref: ICD9:151.6 {source="DOID:10534"}
xref: ICD9:151.9 {source="DOID:10534"}
xref: MEDGEN:44264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013274 {source="DOID:10534"}
xref: NCIT:C9331 {source="DOID:10534", source="MONDO:equivalentTo"}
xref: OMIM:613659 {source="DOID:10534", source="MONDO:equivalentTo"}
xref: Orphanet:63443 {source="MONDO:relatedTo", source="OMIM:613659"}
xref: SCTID:126824007 {source="DOID:10534"}
xref: SCTID:154450001 {source="DOID:10534"}
xref: SCTID:154451002 {source="DOID:10534"}
xref: SCTID:154452009 {source="DOID:10534"}
xref: SCTID:154453004 {source="DOID:10534"}
xref: SCTID:187731004 {source="DOID:10534"}
xref: SCTID:187742008 {source="DOID:10534"}
xref: SCTID:187743003 {source="DOID:10534"}
xref: SCTID:187744009 {source="DOID:10534"}
xref: SCTID:187750004 {source="DOID:10534"}
xref: SCTID:255080008 {source="DOID:10534"}
xref: SCTID:269458007 {source="DOID:10534"}
xref: SCTID:269459004 {source="DOID:10534"}
xref: SCTID:269460009 {source="DOID:10534"}
xref: SCTID:269529007 {source="DOID:10534"}
xref: SCTID:269530002 {source="DOID:10534"}
xref: SCTID:269531003 {source="DOID:10534"}
xref: SCTID:269532005 {source="DOID:10534"}
xref: SCTID:363349007 {source="DOID:10534"}
xref: SCTID:93717002 {source="DOID:10534"}
xref: SCTID:93818001 {source="DOID:10534"}
xref: SCTID:93867004 {source="DOID:10534"}
xref: SCTID:94074003 {source="DOID:10534"}
xref: UMLS:C0024623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44264"}
is_a: MONDO:0002516 {source="DOID:10534", source="ICD10CM:C16", source="MONDO:Redundant", source="NCIT:C9331"} ! digestive system cancer
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C9331"} ! gastric neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000945 ! stomach
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0001057
name: malignant gastric granular cell tumor
def: "A metastasizing granular cell tumor that arises from the stomach." [NCIT:C5484]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant gastric granular cell neoplasm" EXACT [NCIT:C5484]
synonym: "malignant gastric granular cell tumor" EXACT [NCIT:C5484]
synonym: "malignant granular cell neoplasm of stomach" EXACT [NCIT:C5484]
synonym: "malignant granular cell neoplasm of the stomach" EXACT [NCIT:C5484]
synonym: "malignant granular cell stomach neoplasm" EXACT [NCIT:C5484]
synonym: "malignant granular cell stomach tumor" EXACT [NCIT:C5484]
synonym: "malignant granular cell stomach tumour" EXACT OMO:0003005 []
synonym: "malignant granular cell tumor of stomach" EXACT [DOID:10536, NCIT:C5484]
synonym: "malignant granular cell tumor of the stomach" EXACT [NCIT:C5484]
synonym: "malignant granular cell tumour of stomach" EXACT OMO:0003005 []
synonym: "malignant granular cell tumour of the stomach" EXACT OMO:0003005 []
xref: DOID:10536 {source="MONDO:equivalentTo"}
xref: MEDGEN:233664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5484 {source="DOID:10536", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334585 {source="MEDGEN:233664", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001056 {source="DOID:10536", source="NCIT:C5484"} ! gastric cancer
is_a: MONDO:0003252 {source="NCIT:C5484"} ! granular cell cancer

[Term]
id: MONDO:0001058
name: obsolete gastric fundus cancer
is_obsolete: true
replaced_by: MONDO:0004950

[Term]
id: MONDO:0001059
name: gastric lymphoma
def: "An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:C4636]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="NORD:1607", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric lymphoma" EXACT [NCIT:C4636]
synonym: "lymphoma of stomach" EXACT [NCIT:C4636]
synonym: "lymphoma of the stomach" EXACT [DOID:10540, NCIT:C4636]
synonym: "Primary Gastric Lymphoma" EXACT [NORD:1607]
synonym: "primary gastric lymphoma" EXACT [NCIT:C4636]
synonym: "stomach lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:10540 {source="MONDO:equivalentTo"}
xref: ICD9:202.83 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535648 {source="DOID:10540"}
xref: NCIT:C4636 {source="MONDO:equivalentTo", source="DOID:10540"}
xref: NORD:1607 {source="MONDO:NORD"}
xref: SCTID:276811008 {source="MONDO:equivalentTo", source="DOID:10540"}
xref: UMLS:C0349532 {source="MEDGEN:87603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001056 {source="DOID:10540", source="MONDO:Redundant", source="NCIT:C4636"} ! gastric cancer
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4636"} ! gastrointestinal lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0001060
name: microinvasive gastric cancer
def: "An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present." [NCIT:P378]
synonym: "early gastric cancer" EXACT [NCIT:C27131]
synonym: "EGC" EXACT ABBREVIATION [NCIT:C27131]
synonym: "superficial gastric cancer" EXACT [NCIT:C27131]
synonym: "superficial spreading gastric cancer" EXACT [NCIT:C27131]
synonym: "surface gastric cancer" EXACT [DOID:10541, NCIT:C27131]
xref: DOID:10541 {source="MONDO:equivalentTo"}
xref: MEDGEN:138098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27131 {source="MONDO:equivalentTo", source="DOID:10541"}
xref: SCTID:276809004 {source="MONDO:equivalentTo", source="DOID:10541"}
xref: UMLS:C0349530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138098"}
is_a: MONDO:0005036 {source="DOID:10541", source="NCIT:C27131/inferred"} ! gastric adenocarcinoma

[Term]
id: MONDO:0001061
name: pylorus cancer
def: "A malignant neoplasm involving the pylorus." [https://orcid.org/0000-0002-6601-2165]
synonym: "Ca pylorus - stomach" EXACT [DOID:10544]
synonym: "cancer of pylorus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of Prepylorus" EXACT [DOID:10544]
synonym: "malignant neoplasm of pylorus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pylorus of stomach" EXACT [DOID:10544]
synonym: "malignant pylorus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of pylorus" EXACT [DOID:10544]
synonym: "malignant tumour of pylorus" EXACT OMO:0003005 []
synonym: "pylorus cancer" EXACT [MONDO:patterns/location]
xref: DOID:10544 {source="MONDO:equivalentTo"}
xref: ICD10CM:C16.4 {source="DOID:10544"}
xref: ICD9:151.1 {source="DOID:10544", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C188051 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: SCTID:154448009 {source="DOID:10544"}
xref: SCTID:187736009 {source="DOID:10544", source="MONDO:equivalentTo"}
xref: SCTID:187739002 {source="DOID:10544"}
xref: SCTID:269527009 {source="DOID:10544"}
xref: UMLS:C0153418 {source="MEDGEN:509281", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001056 {source="DOID:10544", source="MONDO:Entailed", source="MONDO:Redundant"} ! gastric cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001166 ! pylorus

[Term]
id: MONDO:0001062
name: pyloric antrum cancer
def: "A malignant neoplasm involving the pyloric antrum." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of pyloric antrum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of antrum of stomach" EXACT [DOID:10547]
synonym: "malignant neoplasm of antrum of stomach NOS" RELATED EXCLUDE [DOID:10547]
synonym: "malignant neoplasm of pyloric antrum" EXACT [MONDO:patterns/cancer]
synonym: "malignant pyloric antrum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of pyloric antrum" EXACT [DOID:10547]
synonym: "malignant tumour of pyloric antrum" EXACT OMO:0003005 []
synonym: "pyloric antrum cancer" EXACT [MONDO:patterns/location]
xref: DOID:10547 {source="MONDO:equivalentTo"}
xref: ICD10CM:C16.3 {source="DOID:10547"}
xref: ICD9:151.2 {source="DOID:10547", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187740000 {source="DOID:10547", source="MONDO:equivalentTo"}
xref: SCTID:93976007 {source="DOID:10547"}
xref: UMLS:C0153419 {source="MEDGEN:509282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001061 {source="DOID:10547", source="MONDO:Entailed", source="MONDO:Redundant"} ! pylorus cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001165 ! pyloric antrum

[Term]
id: MONDO:0001063
name: cardia cancer
def: "A malignant neoplasm involving the cardia of stomach." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca cardia - stomach" EXACT [DOID:10548]
synonym: "cancer of cardia of stomach" EXACT [MONDO:patterns/cancer]
synonym: "cardia of stomach cancer" EXACT [MONDO:patterns/location]
synonym: "malignant cardia of stomach neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cardia of stomach" EXACT [DOID:10548, MONDO:patterns/cancer]
xref: DOID:10548 {source="MONDO:equivalentTo"}
xref: ICD10CM:C16.0 {source="DOID:10548"}
xref: ICD9:151.0 {source="DOID:10548", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154447004 {source="DOID:10548"}
xref: SCTID:187732006 {source="DOID:10548", source="MONDO:equivalentTo"}
xref: SCTID:187735008 {source="DOID:10548"}
xref: SCTID:269526000 {source="DOID:10548"}
xref: SCTID:93738008 {source="DOID:10548"}
xref: UMLS:C0153417 {source="MEDGEN:509280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001056 {source="DOID:10548", source="MONDO:Redundant"} ! gastric cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001162 ! cardia of stomach

[Term]
id: MONDO:0001064
name: acute eustachian salpingitis
def: "Acute form of otosalpingitis." [MONDO:patterns/acute]
synonym: "acute eustachian tube salpingitis" EXACT [DOID:10550]
synonym: "acute otosalpingitis" EXACT [MONDO:design_pattern]
synonym: "otosalpingitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: DOID:10550 {source="MONDO:equivalentTo"}
xref: ICD10CM:H68.01 {source="DOID:10550"}
xref: ICD10CM:H68.019 {source="DOID:10550"}
xref: ICD9:381.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10550"}
xref: MEDGEN:509961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:13043002 {source="DOID:10550"}
xref: SCTID:194268005 {source="MONDO:equivalentTo", source="DOID:10550"}
xref: UMLS:C0155429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509961"}
is_a: MONDO:0002172 {source="DOID:10550", source="MONDO:Redundant"} ! otosalpingitis
intersection_of: MONDO:0002172 ! otosalpingitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001065
name: supine hypotensive syndrome
def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." [DOID:10556, PMID:22537582, PMID:8164943]
synonym: "antepartum maternal hypotension syndrome" RELATED [DOID:10556]
synonym: "maternal hypotension syndrome" RELATED []
synonym: "postpartum maternal hypotension syndrome" RELATED [DOID:10556]
xref: DOID:10556 {source="MONDO:equivalentTo"}
xref: HP:0008071
xref: ICD9:669.20 {source="DOID:10556", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:574749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:88887003 {source="MONDO:equivalentTo"}
xref: UMLS:C0341966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574749"}
is_a: MONDO:0005385 {source="DOID:10556"} ! vascular disorder
is_a: MONDO:0005468 {source="https://orcid.org/0000-0001-5208-3432"} ! hypotensive disorder
relationship: disease_has_feature HP:0008071 ! Maternal hypertension

[Term]
id: MONDO:0001066
name: late yaws
def: "Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gummata and ulcers due to yaws" EXACT [DOID:10567, ICD9CM:102.4]
synonym: "gummata of yaws" EXACT [DOID:10567]
synonym: "gummatous frambeside" EXACT [DOID:10567]
synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT [DOID:10567]
synonym: "nodular late yaws" EXACT [DOID:10567]
synonym: "ulcers of yaws" EXACT [DOID:10567]
synonym: "yaws gummata and ulcers" EXACT [DOID:10567]
xref: DOID:10567 {source="MONDO:equivalentTo"}
xref: ICD10CM:A66.1 {source="DOID:10567"}
xref: ICD10CM:A66.4 {source="DOID:10567", source="MONDO:equivalentTo"}
xref: ICD9:102.1 {source="DOID:10567"}
xref: ICD9:102.4 {source="DOID:10567", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:276026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41354 {source="DOID:10567", source="MONDO:equivalentTo"}
xref: SCTID:186968004 {source="DOID:10567", source="MONDO:equivalentTo"}
xref: SCTID:22071004 {source="DOID:10567"}
xref: SCTID:57186002 {source="DOID:10567"}
xref: SCTID:68556002 {source="DOID:10567"}
xref: SCTID:69008006 {source="DOID:10567"}
xref: UMLS:C1517744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276026"}
is_a: MONDO:0005093 {source="DOID:10567", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0006019 {source="DOID:10567", source="NCIT:C41354"} ! yaws
relationship: disease_has_feature HP:0000962 ! Hyperkeratosis

[Term]
id: MONDO:0001067
name: early yaws
def: "Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bone and joint lesions due to yaws" EXACT [DOID:10568, ICD9CM:102.6]
synonym: "bone and joint yaws lesion" EXACT [DOID:10568]
synonym: "chancre of yaws" EXACT [DOID:10568]
synonym: "frambesia, initial or primary" EXACT [DOID:10568]
synonym: "initial frambesial ulcer" EXACT [DOID:10568]
synonym: "initial lesions of yaws" EXACT [DOID:10568, ICD9CM:102.0]
synonym: "primary frambesia" EXACT [DOID:10568]
xref: DOID:10568 {source="MONDO:equivalentTo"}
xref: ICD10CM:A66.0 {source="DOID:10568"}
xref: ICD10CM:A66.6 {source="DOID:10568"}
xref: ICD9:102.0 {source="DOID:10568"}
xref: ICD9:102.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:102.6 {source="DOID:10568"}
xref: MEDGEN:124440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41352 {source="DOID:10568", source="MONDO:equivalentTo"}
xref: SCTID:186969007 {source="DOID:10568"}
xref: SCTID:23191004 {source="DOID:10568", source="MONDO:equivalentTo"}
xref: SCTID:266147005 {source="DOID:10568"}
xref: SCTID:30283007 {source="DOID:10568"}
xref: SCTID:49442000 {source="DOID:10568"}
xref: SCTID:59227007 {source="DOID:10568"}
xref: SCTID:77912009 {source="DOID:10568"}
xref: UMLS:C0275998 {source="MEDGEN:124440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006019 {source="DOID:10568", source="NCIT:C41352"} ! yaws

[Term]
id: MONDO:0001068
name: osteomalacia
def: "A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003" [NCIT:P378]
synonym: "osteomalacia" EXACT [MONDO:ambiguous]
synonym: "osteomalacia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10573 {source="MONDO:equivalentTo"}
xref: HP:0002749 {source="MONDO:otherHierarchy"}
xref: ICD9:268.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10573"}
xref: MEDGEN:14533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010018 {source="MONDO:equivalentTo"}
xref: NCIT:C26838 {source="MONDO:equivalentTo", source="DOID:10573"}
xref: SCTID:154728003 {source="DOID:10573"}
xref: SCTID:190639009 {source="DOID:10573"}
xref: SCTID:190642003 {source="DOID:10573"}
xref: SCTID:4598005 {source="MONDO:equivalentTo", source="DOID:10573"}
xref: UMLS:C0029442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14533"}
is_a: MONDO:0000833 {source="DOID:10573"} ! bone remodeling disease
is_a: MONDO:0800486 {source="NCIT:C26838"} ! metabolic bone disorder
relationship: disease_has_feature HP:0100512 ! Decreased circulating vitamin D concentration
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7006" xsd:anyURI
property_value: IAO:0000589 "osteomalacia (disease)" xsd:string

[Term]
id: MONDO:0001069
name: obsolete leukodystrophy
is_obsolete: true
replaced_by: MONDO:0019046

[Term]
id: MONDO:0001070
name: obsolete adrenoleukodystrophy
is_obsolete: true
replaced_by: MONDO:0018544

[Term]
id: MONDO:0001071
name: intellectual disability
def: "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group." [NCIT:C97250]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "intellectual disabilities" EXACT [NCIT:C97250]
synonym: "intellectual disability" EXACT CLINGEN_LABEL []
synonym: "mental retardation" RELATED DEPRECATED [ICD10CM:F70-F79]
xref: DOID:1059 {source="MONDO:equivalentTo"}
xref: ICD10CM:F70-F79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:319 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:811461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008607 {source="MONDO:equivalentTo"}
xref: NCIT:C97250 {source="MONDO:equivalentTo"}
xref: Orphanet:319658 {source="MONDO:equivalentObsolete"}
xref: SCTID:154979000 {source="DOID:1059"}
xref: SCTID:1855002 {source="MONDO:relatedTo", source="DOID:1059"}
xref: SCTID:192157003 {source="DOID:1059"}
xref: SCTID:192557008 {source="DOID:1059"}
xref: SCTID:268732001 {source="DOID:1059"}
xref: SCTID:91138005 {source="MONDO:equivalentTo", source="DOID:1059"}
xref: UMLS:C3714756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811461"}
is_a: MONDO:0005503 {source="DOID:1059/inferred"} ! developmental disorder of mental health

[Term]
id: MONDO:0001072
name: mild pre-eclampsia
def: "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation." [DOID:10590, http://emedicine.medscape.com/article/1476919-overview]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:10590 {source="MONDO:equivalentTo"}
xref: ICD9:642.40 {source="DOID:10590"}
xref: ICD9:642.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:642.42 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:642.43 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:642.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:542203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:41114007 {source="MONDO:equivalentTo"}
xref: UMLS:C0269658 {source="MEDGEN:542203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005081 {source="DOID:10590"} ! preeclampsia

[Term]
id: MONDO:0001073
name: idiopathic progressive polyneuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:10593 {source="MONDO:equivalentTo"}
xref: ICD9:356.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10593"}
xref: MEDGEN:509646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193164007 {source="DOID:10593"}
xref: SCTID:33209009 {source="MONDO:equivalentTo", source="DOID:10593"}
xref: UMLS:C0154756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509646"}
is_a: MONDO:0001824 {source="DOID:10593"} ! polyneuropathy
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0001074
name: chronic tic disorder
def: "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause." [NCIT:P378]
synonym: "chronic motor or vocal tic disorder" EXACT [DOID:10600, ICD9CM:307.22]
synonym: "tic disorder, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:10600 {source="MONDO:equivalentTo"}
xref: ICD10CM:F95.1 {source="DOID:10600", source="MONDO:equivalentTo"}
xref: ICD9:307.22 {source="DOID:10600"}
xref: MEDGEN:40301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013981 {source="DOID:10600"}
xref: NCIT:C116768 {source="DOID:10600", source="MONDO:equivalentTo"}
xref: SCTID:192623005 {source="DOID:10600"}
xref: UMLS:C0008701 {source="MEDGEN:40301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002420 {source="DOID:10600", source="MONDO:Entailed", source="MONDO:Redundant"} ! tic disorder
is_a: MONDO:0005395 {source="NCIT:C116768"} ! movement disorder
intersection_of: MONDO:0002420 ! tic disorder
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: disease_has_feature HP:0100035 ! Phonic tics

[Term]
id: MONDO:0001075
name: steatorrhea
def: "A finding of an excessive amount of fat in the stool." [NCIT:P378]
synonym: "fatty stool" EXACT [DOID:10602]
synonym: "fatty stool (finding)" EXACT [DOID:10602]
synonym: "steatorrhea" EXACT [MONDO:ambiguous]
synonym: "steatorrhea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10602 {source="MONDO:equivalentObsolete"}
xref: HP:0002570 {source="MONDO:otherHierarchy"}
xref: MEDGEN:20948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045602 {source="DOID:10602", source="MONDO:equivalentTo"}
xref: NCIT:C86917 {source="DOID:10602", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:197489007 {source="DOID:10602"}
xref: SCTID:266481005 {source="DOID:10602"}
xref: SCTID:27868004 {source="DOID:10602", source="MONDO:equivalentTo"}
xref: SCTID:66187002 {source="DOID:10602"}
xref: UMLS:C0038238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20948"}
is_a: MONDO:0005020 {source="DOID:10602", source="MESH:D045602/inferred"} ! intestinal disorder
property_value: IAO:0000589 "steatorrhea (disease)" xsd:string

[Term]
id: MONDO:0001076
name: glucose intolerance
def: "The inability to regulate blood glucose levels resulting in hyperglycemia." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glucose: [intolerance] or [malabsorption]" EXACT [DOID:10603]
synonym: "glucose: intolerance" EXACT [DOID:10603]
synonym: "glucose: malabsorption" EXACT [DOID:10603]
synonym: "malabsorption of glucose" EXACT [DOID:10603]
xref: DOID:10603 {source="MONDO:equivalentTo"}
xref: ICD10CM:R73.09 {source="DOID:10603"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018149 {source="DOID:10603", source="MONDO:equivalentTo"}
xref: NCIT:C34646 {source="DOID:10603", source="MONDO:equivalentTo"}
xref: SCTID:154720005 {source="DOID:10603"}
xref: SCTID:190752008 {source="DOID:10603"}
xref: SCTID:267426009 {source="DOID:10603", source="MONDO:equivalentTo"}
xref: SCTID:9414007 {source="DOID:10603"}
xref: UMLS:C0271650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75760"}
is_a: MONDO:0002908 {source="DOID:10603/inferred", source="MESH:D018149/inferred", source="MONDO:Redundant", source="NCIT:C34646"} ! glucose metabolism disease
is_a: MONDO:0011731 ! glucose-galactose malabsorption
is_a: MONDO:0045015 ! carbohydrate transport disease
relationship: disease_has_feature MONDO:0002909 {source="DOID:10603-modified", source="MESH:D018149-modifier", source="NCIT:C34646-textdef"} ! hyperglycemia

[Term]
id: MONDO:0001077
name: obsolete short bowel syndrome
is_obsolete: true
replaced_by: MONDO:0015183

[Term]
id: MONDO:0001078
name: tropical sprue
def: "A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "idiopathic tropical malabsorption syndrome" RELATED [GARD:0007824]
synonym: "post-infective tropical malabsorption" EXACT [NCIT:C45428]
synonym: "sprue - tropical" EXACT [DOID:10607]
synonym: "tropical enteropathy" RELATED [GARD:0007824]
synonym: "tropical steatorrhea" EXACT [DOID:10607]
xref: DOID:10607 {source="MONDO:equivalentTo"}
xref: ICD10CM:K90.1 {source="MONDO:equivalentTo", source="DOID:10607"}
xref: ICD9:579.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10607"}
xref: MEDGEN:21300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013182 {source="MONDO:equivalentTo", source="DOID:10607"}
xref: NCIT:C45428 {source="MONDO:equivalentTo", source="DOID:10607"}
xref: SCTID:155846005 {source="DOID:10607"}
xref: SCTID:266547002 {source="DOID:10607"}
xref: SCTID:47384003 {source="MONDO:equivalentTo", source="DOID:10607"}
xref: UMLS:C0038054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21300"}
is_a: MONDO:0005020 {source="DOID:10607", source="MESH:D013182/inferred", source="NCIT:C45428/inferred"} ! intestinal disorder
is_a: MONDO:0020598 ! malabsorption syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue" xsd:anyURI {source="GARD:0007824"}

[Term]
id: MONDO:0001079
name: pancreatic steatorrhea
synonym: "pancreatic steatorrhoea" EXACT [DOID:10610]
xref: DOID:10610 {source="MONDO:equivalentTo"}
xref: ICD10CM:K90.3 {source="DOID:10610", source="MONDO:equivalentTo"}
xref: ICD9:579.4 {source="DOID:10610", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155845009 {source="DOID:10610"}
xref: SCTID:197487009 {source="DOID:10610"}
xref: SCTID:54576000 {source="DOID:10610", source="MONDO:equivalentTo"}
xref: UMLS:C0152166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508909"}
is_a: MONDO:0002356 {source="DOID:10610"} ! pancreas disorder
intersection_of: MONDO:0001075 ! steatorrhea
intersection_of: disease_has_location UBERON:0001264 ! pancreas
relationship: disease_has_location UBERON:0001264 ! pancreas
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0001080
name: acute gonococcal cervicitis
def: "Acute form of gonococcal cervicitis." [MONDO:patterns/acute]
synonym: "acute gonorrhea of cervix" EXACT [DOID:10615]
synonym: "acute gonorrhoea of cervix" EXACT OMO:0003005 []
synonym: "gonococcal cervicitis" RELATED EXCLUDE [DOID:10615]
synonym: "gonococcal cervicitis (acute)" EXACT [DOID:10615, ICD9CM:098.15]
synonym: "gonococcal cervicitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: DOID:10615 {source="MONDO:equivalentTo"}
xref: ICD9:098.15 {source="MONDO:equivalentTo", source="DOID:10615", source="MONDO:i2s"}
xref: MEDGEN:509197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:20943002 {source="MONDO:equivalentTo", source="DOID:10615"}
xref: UMLS:C0153195 {source="MONDO:equivalentTo", source="MEDGEN:509197", source="MONDO:MEDGEN"}
is_a: MONDO:0001081 {source="DOID:10615", source="MONDO:Redundant"} ! acute cervicitis
is_a: MONDO:0021157 {source="MONDO:Redundant"} ! gonococcal cervicitis
intersection_of: MONDO:0021157 ! gonococcal cervicitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001081
name: acute cervicitis
def: "Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation." [NCIT:P378]
synonym: "acute cervicitis (disease)" EXACT []
synonym: "cervicitis (disease), acute" EXACT [MONDO:patterns/acute]
xref: DOID:10616 {source="MONDO:equivalentTo"}
xref: MEDGEN:124346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27056 {source="DOID:10616", source="MONDO:equivalentTo"}
xref: SCTID:19272000 {source="DOID:10616", source="MONDO:equivalentTo"}
xref: UMLS:C0269061 {source="MEDGEN:124346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002345 {source="DOID:10616", source="MONDO:Redundant", source="NCIT:C27056"} ! cervicitis
intersection_of: MONDO:0002345 ! cervicitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001082
name: lymph node cancer
def: "A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004" [NCIT:C35812]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of lymph node" EXACT [MONDO:patterns/cancer]
synonym: "lymph node cancer" EXACT [MONDO:patterns/location, NCIT:C35812]
synonym: "lymph node neoplasm" BROAD [DOID:10619, NCIT:C35497]
synonym: "malignant lymph node neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35812]
synonym: "malignant neoplasm of lymph node" EXACT [MONDO:patterns/cancer]
xref: DOID:10619 {source="MONDO:equivalentTo"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:182690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35497 {source="DOID:10619"}
xref: NCIT:C35812 {source="MONDO:equivalentTo"}
xref: SCTID:127232002 {source="MONDO:equivalentTo", source="DOID:10619"}
xref: UMLS:C0948627 {source="MEDGEN:182690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000612 {source="DOID:10619", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system cancer
is_a: MONDO:0004928 {source="DOID:10619", source="MONDO:Redundant", source="NCIT:C35812/inferred"} ! lymph node disorder
is_a: MONDO:0024339 {source="MONDO:Redundant", source="NCIT:C35812"} ! lymph node neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000029 ! lymph node

[Term]
id: MONDO:0001083
name: Fanconi renotubular syndrome
def: "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients." [NCIT:C3034]
subset: gard_rare {source="GARD:9120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult Fanconi syndrome" NARROW [DOID:1062]
synonym: "congenital Fanconi syndrome" NARROW [DOID:1062]
synonym: "De toni-debre-Fanconi syndrome" EXACT [NCIT:C3034]
synonym: "De toni-Fanconi syndrome" EXACT [DOID:1062]
synonym: "deToni Fanconi syndrome" EXACT [DOID:1062]
synonym: "Fanconi syndrome" EXACT [NCIT:C3034]
synonym: "Fanconi's syndrome" EXACT [NCIT:C3034]
synonym: "Fanconi-de toni syndrome" EXACT [DOID:1062]
synonym: "Fanconi-de-toni syndrome" EXACT [DOID:1062]
synonym: "infantile nephropathic cystinosis" RELATED [DOID:1062]
synonym: "Lignac-Fanconi syndrome" EXACT [DOID:1062, NCIT:C3034]
synonym: "toni-debre-Fanconi syndrome" RELATED [GARD:0009120]
xref: DOID:1062 {source="MONDO:equivalentTo"}
xref: GARD:9120 {source="MONDO:GARD"}
xref: MEDGEN:4653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005198 {source="MONDO:equivalentTo", source="DOID:1062"}
xref: NANDO:2100027 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200187 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3034 {source="MONDO:equivalentTo", source="DOID:1062"}
xref: NCIT:C4377 {source="DOID:1062"}
xref: Orphanet:3337 {source="DOID:1062"}
xref: SCTID:236468006 {source="DOID:1062"}
xref: SCTID:40488004 {source="MONDO:equivalentTo", source="DOID:1062"}
xref: SCTID:44673006 {source="DOID:1062"}
xref: UMLS:C0015624 {source="MEDGEN:4653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C3034"} ! syndromic disease
is_a: MONDO:0006510 {source="DOID:1062", source="MESH:D005198"} ! renal tubular transport disease
relationship: disease_has_location UBERON:0001287 ! proximal convoluted tubule
relationship: excluded_subClassOf MONDO:0003847 {source="NCIT:C3034", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: excluded_synonym "adult Fanconi Anemia" xsd:string {source="DOID:1062"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome" xsd:anyURI {source="GARD:0009120"}

[Term]
id: MONDO:0001084
name: primary optic atrophy
xref: DOID:10627 {source="MONDO:equivalentTo"}
xref: ICD10CM:H47.21 {source="DOID:10627"}
xref: ICD9:377.11 {source="DOID:10627", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21098003 {source="DOID:10627", source="MONDO:equivalentTo"}
xref: UMLS:C0155291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509897"}
is_a: MONDO:0003608 {source="DOID:10627"} ! optic atrophy

[Term]
id: MONDO:0001085
name: interstitial nephritis
def: "Inflammation of the renal tubules and supporting tissues of the kidney." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "renal tubulo-interstitial disease" EXACT [DOID:1063]
synonym: "Tubulointerstitial nephritis" EXACT [NCIT:C26834]
xref: DOID:1063 {source="MONDO:equivalentTo"}
xref: ICD10CM:N10-N16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:N12 {source="DOID:1063"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009395 {source="MONDO:equivalentTo", source="DOID:1063"}
xref: NANDO:2200136 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26834 {source="MONDO:equivalentTo", source="DOID:1063"}
xref: SCTID:264536006 {source="DOID:1063"}
xref: SCTID:28689008 {source="MONDO:equivalentTo", source="DOID:1063"}
xref: UMLS:C0041349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11952"}
is_a: MONDO:0001166 {source="DOID:1063", source="MESH:D009395", source="NCIT:C26834"} ! nephritis

[Term]
id: MONDO:0001086
name: partial optic atrophy
xref: DOID:10631 {source="MONDO:equivalentTo"}
xref: ICD9:377.15 {source="DOID:10631", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111527005 {source="DOID:10631", source="MONDO:equivalentTo"}
xref: SCTID:194044005 {source="DOID:10631"}
xref: UMLS:C0155295 {source="MEDGEN:509900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003608 {source="DOID:10631"} ! optic atrophy

[Term]
id: MONDO:0001087
name: schizotypal personality disorder
def: "A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:10646 {source="MONDO:equivalentTo"}
xref: ICD10CM:F20-F29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F21 {source="DOID:10646"}
xref: ICD9:301.22 {source="DOID:10646", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:20666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012569 {source="DOID:10646", source="MONDO:equivalentTo"}
xref: NCIT:C92632 {source="DOID:10646", source="MONDO:equivalentTo"}
xref: SCTID:231486008 {source="DOID:10646"}
xref: SCTID:31027006 {source="DOID:10646", source="MONDO:equivalentTo"}
xref: UMLS:C0036363 {source="MEDGEN:20666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002028 {source="DOID:10646", source="NCIT:C92632"} ! personality disorder

[Term]
id: MONDO:0001088
name: acute inferoposterior infarction
comment: Editor note: TODO: positional superclass
synonym: "acute inferoposterior infarction" EXACT []
synonym: "acute inferoposterior myocardial infarction" EXACT []
synonym: "acute myocardial infarction of inferoposterior wall" EXACT []
xref: DOID:10648 {source="MONDO:equivalentTo"}
xref: ICD9:410.30 {source="MONDO:equivalentTo", source="DOID:10648", source="MONDO:i2s"}
xref: ICD9:410.31 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:410.32 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:573662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:76593002 {source="MONDO:equivalentTo"}
xref: UMLS:C0340304 {source="MONDO:equivalentTo", source="MEDGEN:573662", source="MONDO:MEDGEN"}
is_a: MONDO:0004781 {source="DOID:10648"} ! acute myocardial infarction
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001089
name: acute inferolateral myocardial infarction
comment: Editor note: TODO: positional superclass
synonym: "acute inferolateral myocardial infarction" EXACT []
synonym: "acute myocardial infarction of inferolateral wall" EXACT []
xref: DOID:10649 {source="MONDO:equivalentTo"}
xref: ICD9:410.20 {source="DOID:10649", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:410.21 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:410.22 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:573665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:65547006 {source="MONDO:equivalentTo"}
xref: UMLS:C0340308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573665"}
is_a: MONDO:0004781 {source="DOID:10649"} ! acute myocardial infarction
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001090
name: acute anterolateral myocardial infarction
def: "Acute form of anterolateral myocardial infarction." [MONDO:patterns/acute]
comment: Editor note: TODO: positional superclass
synonym: "acute anterolateral myocardial infarction" EXACT []
synonym: "acute myocardial infarction of anterolateral wall" EXACT []
synonym: "anterolateral myocardial infarction, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10651 {source="MONDO:equivalentTo"}
xref: ICD9:410.0 {source="DOID:10651"}
xref: ICD9:410.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:410.01 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:410.02 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:510040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:70211005 {source="MONDO:equivalentTo", source="DOID:10651"}
xref: UMLS:C0155627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510040"}
is_a: MONDO:0004781 {source="DOID:10651", source="MONDO:Redundant"} ! acute myocardial infarction
intersection_of: MONDO:0006652 ! anterolateral myocardial infarction
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001091
name: lipoma of colon
def: "A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction." [NCIT:C5493]
synonym: "colon lipoma" EXACT [MONDO:patterns/location, NCIT:C5493]
synonym: "colonic lipoma" EXACT [DOID:10655, NCIT:C5493]
synonym: "lipoma of colon" EXACT [NCIT:C5493]
synonym: "lipoma of the colon" EXACT [NCIT:C5493]
xref: DOID:10655 {source="MONDO:equivalentTo"}
xref: MEDGEN:182652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5493 {source="DOID:10655", source="MONDO:equivalentTo"}
xref: UMLS:C0940607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:182652"}
is_a: MONDO:0002278 {source="MONDO:Redundant", source="NCIT:C5493"} ! benign colon neoplasm
is_a: MONDO:0003885 {source="DOID:10655", source="MONDO:Redundant", source="NCIT:C5493"} ! colorectal lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0001092
name: colon leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5492]
synonym: "colon leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5492]
synonym: "colonic leiomyoma" EXACT [DOID:10656, NCIT:C5492]
synonym: "leiomyoma of colon" EXACT [NCIT:C5492]
synonym: "leiomyoma of the colon" EXACT [NCIT:C5492]
xref: DOID:10656 {source="MONDO:equivalentTo"}
xref: MEDGEN:232379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5492 {source="DOID:10656", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232379"}
is_a: MONDO:0002278 {source="MONDO:Redundant", source="NCIT:C5492"} ! benign colon neoplasm
is_a: MONDO:0003299 {source="DOID:10656", source="MONDO:Redundant", source="NCIT:C5492"} ! colorectal leiomyoma
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C5492/inferred"} ! colonic neoplasm
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0001093
name: colonic lymphangioma
def: "A lymphangioma arising from the colon." [NCIT:C5500]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "colon lymphangioma" EXACT [MONDO:patterns/location, NCIT:C5500]
synonym: "colonic lymphangioma" EXACT [DOID:10657, NCIT:C5500]
synonym: "lymphangioma of colon" EXACT [DOID:10657, NCIT:C5500]
synonym: "lymphangioma of the colon" EXACT [NCIT:C5500]
xref: DOID:10657 {source="MONDO:equivalentTo"}
xref: MEDGEN:232381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5500 {source="DOID:10657", source="MONDO:equivalentTo"}
xref: UMLS:C1333094 {source="MEDGEN:232381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002013 {source="DOID:10657", source="MONDO:Redundant", source="NCIT:C5500/inferred"} ! lymphangioma
is_a: MONDO:0002278 {source="DOID:10657", source="MONDO:Redundant", source="NCIT:C5500"} ! benign colon neoplasm
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C5500/inferred"} ! colonic neoplasm
intersection_of: MONDO:0002013 ! lymphangioma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0001094
name: residual stage of open angle glaucoma
synonym: "open-angle glaucoma residual stage" EXACT [DOID:1066]
synonym: "residual stage of open angle glaucoma" EXACT [DOID:1066]
xref: DOID:1066 {source="MONDO:equivalentTo"}
xref: ICD10CM:H40.15 {source="DOID:1066"}
xref: ICD9:365.15 {source="DOID:1066", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193542007 {source="DOID:1066"}
xref: SCTID:66990007 {source="DOID:1066", source="MONDO:equivalentTo"}
xref: UMLS:C0154944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509733"}
is_a: MONDO:0005338 {source="DOID:1066"} ! open-angle glaucoma

[Term]
id: MONDO:0001095
name: mediastinum neuroblastoma
def: "A neuroblastoma arising from the mediastinum." [NCIT:C6628]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mediastinal neuroblastoma" RELATED [NCIT:C6628]
synonym: "mediastinum neuroblastoma" EXACT [MONDO:patterns/location]
synonym: "neuroblastoma of mediastinum" EXACT [DOID:10660, NCIT:C6628]
synonym: "neuroblastoma of the mediastinum" RELATED [NCIT:C6628]
xref: DOID:10660 {source="MONDO:equivalentTo"}
xref: EFO:1000367 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6628 {source="MONDO:equivalentTo", source="EFO:1000367", source="DOID:10660", source="NCIT:C6628"}
xref: UMLS:C1334673 {source="MONDO:equivalentTo", source="MEDGEN:235313", source="MONDO:MEDGEN"}
is_a: MONDO:0003098 {source="DOID:10660", source="NCIT:C6628"} ! mediastinal neural neoplasm
is_a: MONDO:0005072 {source="DOID:10660", source="EFO:1000367", source="MONDO:Redundant", source="NCIT:C6628/inferred"} ! neuroblastoma
is_a: MONDO:0005843 {source="DOID:10660/inferred", source="NCIT:C6628"} ! mediastinal cancer
intersection_of: MONDO:0005072 ! neuroblastoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0001096
name: mediastinum ganglioneuroblastoma
def: "A ganglioneuroblastoma arising from the mediastinum." [NCIT:C6627]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ganglioneuroblastoma (disease) of mediastinum" EXACT []
synonym: "ganglioneuroblastoma of mediastinum" EXACT [DOID:10661, NCIT:C6627]
synonym: "ganglioneuroblastoma of the mediastinum" EXACT [NCIT:C6627]
synonym: "mediastinal ganglioneuroblastoma" EXACT [NCIT:C6627]
synonym: "mediastinum ganglioneuroblastoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:10661 {source="MONDO:equivalentTo"}
xref: MEDGEN:235308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6627 {source="MONDO:equivalentTo", source="DOID:10661"}
xref: UMLS:C1334653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235308"}
is_a: MONDO:0001095 {source="DOID:10661"} ! mediastinum neuroblastoma
is_a: MONDO:0003098 {source="DOID:10661", source="NCIT:C6627"} ! mediastinal neural neoplasm
is_a: MONDO:0003327 {source="MONDO:Redundant", source="NCIT:C6627"} ! peripheral ganglioneuroblastoma
is_a: MONDO:0005035 {source="DOID:10661", source="MONDO:Redundant", source="NCIT:C6627/inferred"} ! ganglioneuroblastoma
intersection_of: MONDO:0005035 ! ganglioneuroblastoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum
relationship: excluded_subClassOf MONDO:0005843 {source="NCIT:C6627", source="https://orcid.org/0000-0001-5208-3432"} ! mediastinal cancer

[Term]
id: MONDO:0001097
name: obsolete juvenile glaucoma
is_obsolete: true
replaced_by: MONDO:0020367

[Term]
id: MONDO:0001098
name: separation anxiety disorder
def: "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." [NCIT:C35014]
subset: otar {source="MONDO:OTAR"}
xref: DOID:10685 {source="MONDO:equivalentTo"}
xref: EFO:1001916 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001010 {source="MONDO:equivalentTo"}
xref: NCIT:C35014 {source="MONDO:equivalentTo"}
xref: SCTID:11806006 {source="MONDO:equivalentTo"}
xref: UMLS:C0003477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1999"}
is_a: MONDO:0005618 {source="DOID:10685", source="EFO:1001916", source="MESH:D001010"} ! anxiety disorder

[Term]
id: MONDO:0001099
name: lactocele
def: "Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice." [NCIT:C3515]
synonym: "galactocele" EXACT [DOID:10686, NCIT:C3515]
synonym: "Galactocoele" RELATED [GARD:0008401]
synonym: "lacteal cyst" RELATED [GARD:0008401]
xref: DOID:10686 {source="MONDO:equivalentTo"}
xref: ICD10CM:N64.89 {source="DOID:10686"}
xref: ICD9:611.5 {source="DOID:10686", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535998 {source="DOID:10686", source="MONDO:equivalentTo"}
xref: NCIT:C3515 {source="DOID:10686", source="MONDO:equivalentTo"}
xref: SCTID:155966000 {source="DOID:10686"}
xref: SCTID:266647006 {source="DOID:10686"}
xref: SCTID:42385006 {source="DOID:10686", source="MONDO:equivalentTo"}
xref: UMLS:C0152243 {source="MEDGEN:101829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001011 {source="DOID:10686", source="MESH:C535998"} ! breast cyst
relationship: disease_has_basis_in_disruption_of GO:0007595 ! lactation

[Term]
id: MONDO:0001100
name: hypertrophy of breast
def: "Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain." [NCIT:P378]
synonym: "breast Hypertrophy" EXACT [NCIT:C3125]
synonym: "breasts enlarged" EXACT [DOID:10688]
synonym: "drug-induced gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "gestational gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "gigantomastia" EXACT [NCIT:C3125]
synonym: "hypertrophy of the breast" EXACT [NCIT:C3125]
synonym: "idiopathic gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "juvenile gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "large breast" EXACT [DOID:10688]
synonym: "macromastia" EXACT [NCIT:C3125]
synonym: "medication-induced gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "pregnancy-induced gigantomastia (subtype)" RELATED [GARD:0009450]
synonym: "puberty-induced gigantomastia (subtype)" RELATED [GARD:0009450]
xref: DOID:10688 {source="MONDO:equivalentTo"}
xref: ICD10CM:N62 {source="DOID:10688", source="MONDO:equivalentTo"}
xref: ICD9:611.1 {source="DOID:10688", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3125 {source="DOID:10688", source="MONDO:equivalentTo"}
xref: SCTID:155963008 {source="DOID:10688"}
xref: SCTID:198114003 {source="DOID:10688"}
xref: SCTID:266646002 {source="DOID:10688"}
xref: SCTID:372281005 {source="DOID:10688", source="MONDO:equivalentTo"}
xref: SCTID:43336006 {source="DOID:10688"}
xref: UMLS:C0020565 {source="MEDGEN:43789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002657 {source="DOID:10688", source="NCIT:C3125/inferred"} ! breast disorder

[Term]
id: MONDO:0001101
name: fat necrosis of breast
def: "Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment." [NCIT:P378]
synonym: "breast fat necrosis" EXACT [DOID:10691, NCIT:C3661]
synonym: "fat Necrosis of the breast" EXACT [NCIT:C3661]
xref: DOID:10691 {source="MONDO:equivalentTo"}
xref: ICD10CM:N64.1 {source="MONDO:equivalentTo", source="DOID:10691"}
xref: ICD9:611.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10691"}
xref: MEDGEN:57847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3661 {source="MONDO:equivalentTo", source="DOID:10691"}
xref: SCTID:21381006 {source="MONDO:equivalentTo", source="DOID:10691"}
xref: UMLS:C0156321 {source="MEDGEN:57847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002657 {source="DOID:10691", source="NCIT:C3661/inferred"} ! breast disorder

[Term]
id: MONDO:0001102
name: obsolete chronic endophthalmitis
is_obsolete: true
replaced_by: MONDO:0017203

[Term]
id: MONDO:0001103
name: giardiasis
def: "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." [MESH:D005873]
synonym: "beaver feaver" EXACT [DOID:10718]
synonym: "Giardia" RELATED []
synonym: "Giardia infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Giardiases" RELATED [MESH:D005873]
synonym: "infection by Giardia lamblia" EXACT [DOID:10718]
synonym: "infections, Giardia" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Lambliases" RELATED [MESH:D005873]
synonym: "lambliasis" RELATED [MESH:D005873]
xref: DOID:10718 {source="MONDO:equivalentTo"}
xref: ICD10CM:A07.1 {source="DOID:10718"}
xref: ICD9:007.1 {source="DOID:10718"}
xref: MEDGEN:42213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005873 {source="MONDO:equivalentTo", source="DOID:10718"}
xref: SCTID:10679007 {source="MONDO:equivalentTo", source="DOID:10718"}
xref: SCTID:154275004 {source="DOID:10718"}
xref: SCTID:186124000 {source="DOID:10718"}
xref: SCTID:266075009 {source="DOID:10718"}
xref: SCTID:266176008 {source="DOID:10718"}
xref: SCTID:58265007 {source="DOID:10718"}
xref: UMLS:C0017536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42213"}
is_a: MONDO:0002428 {source="DOID:10718", source="MESH:D005873"} ! protozoa infectious disease
is_a: MONDO:0024270 {source="MESH:D005873"} ! parasitic intestinal disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5740 ! Giardia

[Term]
id: MONDO:0001104
name: toxic diffuse goiter
subset: otar {source="MONDO:OTAR"}
xref: DOID:10719 {source="MONDO:equivalentTo"}
xref: ICD9:242.00 {source="DOID:10719"}
xref: MEDGEN:488851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:267374005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342122 {source="MEDGEN:488851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004425 {source="DOID:10719"} ! hyperthyroidism

[Term]
id: MONDO:0001105
name: renal hypertension
def: "Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries." [Wikipedia:Renovascular_hypertension]
subset: otar {source="MONDO:OTAR"}
synonym: "renovascular hypertension" NARROW [Wikipedia:Renovascular_hypertension]
xref: DOID:1073 {source="MONDO:equivalentTo"}
xref: EFO:1002039 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:5700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006977 {source="MONDO:equivalentTo", source="DOID:1073"}
xref: NANDO:2100016 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200141 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3121 {source="MONDO:otherHierarchy", source="DOID:1073"}
xref: SCTID:194775007 {source="DOID:1073"}
xref: SCTID:28119000 {source="MONDO:equivalentTo", source="DOID:1073"}
xref: UMLS:C0020544 {source="MEDGEN:5700", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001200 {source="DOID:1073", source="EFO:1002039", source="MONDO:Redundant", source="PMID:25492839", source="Wikipedia:Renovascular_hypertension"} ! secondary hypertension
is_a: MONDO:0005240 {source="DOID:1073", source="EFO:1002039", source="MESH:D006977"} ! kidney disorder
intersection_of: MONDO:0001200 ! secondary hypertension
intersection_of: disease_arises_from_feature HP:0001920 ! Renal artery stenosis

[Term]
id: MONDO:0001106
name: kidney failure
def: "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "failure, renal" EXACT [NCIT:C4376]
synonym: "renal failure" EXACT [DOID:1074]
synonym: "renal failure syndrome" EXACT [NCIT:C4376]
synonym: "renal insufficiency" EXACT [NCIT:C4376]
xref: DOID:1074 {source="MONDO:equivalentTo"}
xref: EFO:1002048 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N19 {source="DOID:1074"}
xref: ICD9:404.12 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:404.13 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:586 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1074"}
xref: MEDGEN:11177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D051437 {source="MONDO:equivalentTo", source="DOID:1074"}
xref: NCIT:C4376 {source="MONDO:equivalentTo", source="DOID:1074"}
xref: SCTID:156092003 {source="DOID:1074"}
xref: SCTID:197656003 {source="DOID:1074"}
xref: SCTID:198524000 {source="DOID:1074"}
xref: SCTID:266553002 {source="DOID:1074"}
xref: SCTID:266616000 {source="DOID:1074"}
xref: SCTID:42399005 {source="MONDO:equivalentTo", source="DOID:1074"}
xref: UMLS:C0035078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11177"}
is_a: MONDO:0005240 {source="DOID:1074", source="MESH:D051437", source="NCIT:C4376/inferred"} ! kidney disorder

[Term]
id: MONDO:0001107
name: obsolete cerebral lipidosis
is_obsolete: true
replaced_by: MONDO:0020143

[Term]
id: MONDO:0001108
name: broad ligament malignant neoplasm
def: "A malignant neoplasm involving the broad ligament of uterus." [https://orcid.org/0000-0002-6601-2165]
synonym: "broad ligament of uterus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of broad ligament of uterus" EXACT [MONDO:patterns/cancer]
synonym: "malignant broad ligament of uterus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of broad ligament of uterus" EXACT [DOID:10744, ICD9CM:183.3, MONDO:patterns/cancer]
xref: DOID:10744 {source="MONDO:equivalentTo"}
xref: ICD10CM:C57.1 {source="DOID:10744"}
xref: ICD9:183.3 {source="DOID:10744", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:577691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188202001 {source="DOID:10744"}
xref: SCTID:449259009 {source="DOID:10744", source="MONDO:equivalentTo"}
xref: SCTID:93728003 {source="DOID:10744"}
xref: UMLS:C0346866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:577691"}
is_a: MONDO:0001351 {source="DOID:10744"} ! uterine adnexa cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0012332 ! broad ligament of uterus

[Term]
id: MONDO:0001109
name: petrositis
def: "Inflammation of petrous bone." [MESH:D059270]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acute petrositis" EXACT [DOID:10755]
synonym: "chronic petrositis" EXACT [DOID:10755]
synonym: "inflammation of petrous bone" RELATED [DOID:10755]
synonym: "inflammation of petrous part of temporal bone" EXACT []
synonym: "petrous part of temporal bone inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10755 {source="MONDO:equivalentTo"}
xref: ICD10CM:H70.2 {source="DOID:10755", source="MONDO:equivalentTo"}
xref: ICD10CM:H70.20 {source="DOID:10755"}
xref: ICD10CM:H70.209 {source="DOID:10755"}
xref: ICD10CM:H70.21 {source="DOID:10755"}
xref: ICD10CM:H70.219 {source="DOID:10755"}
xref: ICD10CM:H70.22 {source="DOID:10755"}
xref: ICD10CM:H70.229 {source="DOID:10755"}
xref: ICD9:383.2 {source="DOID:10755"}
xref: ICD9:383.20 {source="DOID:10755"}
xref: ICD9:383.21 {source="DOID:10755"}
xref: ICD9:383.22 {source="DOID:10755", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:452133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059270 {source="DOID:10755", source="MONDO:equivalentTo"}
xref: SCTID:155233009 {source="DOID:10755"}
xref: SCTID:194300003 {source="DOID:10755"}
xref: SCTID:194301004 {source="DOID:10755"}
xref: SCTID:267760001 {source="DOID:10755"}
xref: SCTID:28593007 {source="DOID:10755", source="MONDO:equivalentTo"}
xref: SCTID:34997001 {source="DOID:10755"}
xref: SCTID:51211002 {source="DOID:10755"}
xref: UMLS:C0155448 {source="MEDGEN:452133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005246 {source="DOID:10755", source="MESH:D059270"} ! osteomyelitis
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001694 ! petrous part of temporal bone
relationship: disease_has_feature HP:0002754 ! Osteomyelitis

[Term]
id: MONDO:0001110
name: chronic pyelonephritis
def: "Persistent pyelonephritis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "pyelonephritis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:1076 {source="MONDO:equivalentTo"}
xref: ICD10CM:N11 {source="DOID:1076"}
xref: ICD10CM:N11.9 {source="DOID:1076"}
xref: ICD9:590.0 {source="DOID:1076"}
xref: MEDGEN:39090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100012 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200137 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123216 {source="DOID:1076", source="MONDO:equivalentTo"}
xref: SCTID:123293005 {source="DOID:1076"}
xref: SCTID:155861006 {source="DOID:1076"}
xref: SCTID:197767009 {source="DOID:1076"}
xref: SCTID:266619007 {source="DOID:1076"}
xref: SCTID:63302006 {source="DOID:1076", source="MONDO:equivalentTo"}
xref: UMLS:C0085697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39090"}
is_a: MONDO:0006939 {source="DOID:1076", source="MONDO:Redundant", source="NCIT:C123216"} ! pyelonephritis
intersection_of: MONDO:0006939 ! pyelonephritis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001111
name: obsolete thrombotic thrombocytopenic purpura
is_obsolete: true
replaced_by: MONDO:0018896

[Term]
id: MONDO:0001112
name: bubonic plague
def: "A plague in which the bacteria have infected the lymphatic system." [https://www.healthline.com/health/plague#types]
subset: gard_rare {source="GARD:183", source="MONDO:GARD"}
subset: rare
synonym: "black death" EXACT [DOID:10773]
xref: DOID:10773 {source="MONDO:equivalentTo"}
xref: GARD:183 {source="MONDO:GARD"}
xref: ICD10CM:A20.0 {source="MONDO:equivalentTo", source="DOID:10773"}
xref: ICD9:020.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10773"}
xref: MEDGEN:76407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010930 {source="DOID:10773"}
xref: SCTID:50797007 {source="MONDO:equivalentTo", source="DOID:10773"}
xref: SCTID:58750007 {source="DOID:10773"}
xref: UMLS:C0282312 {source="MEDGEN:76407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019095 {source="DOID:10773", source="ICD10CM:A20.0", source="MONDO:Redundant"} ! plague
intersection_of: MONDO:0019095 ! plague
intersection_of: disease_has_location UBERON:0006558 ! lymphatic part of lymphoid system
relationship: disease_has_infectious_agent NCBITaxon:632 {source="MONDO:Wikidata"} ! Yersinia pestis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/183/bubonic-plague" xsd:anyURI {source="GARD:0000183"}

[Term]
id: MONDO:0001113
name: Fiedler's myocarditis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fiedler myocarditis" EXACT [DOID:10778]
synonym: "idiopathic myocarditis" EXACT [DOID:10778, ICD9CM:422.91]
synonym: "isolated (Fiedler's) myocarditis" EXACT [DOID:10778]
xref: DOID:10778 {source="MONDO:equivalentTo"}
xref: ICD10CM:I40.1 {source="DOID:10778", source="MONDO:equivalentTo"}
xref: ICD9:422.91 {source="DOID:10778"}
xref: MEDGEN:510047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194954007 {source="DOID:10778"}
xref: SCTID:194955008 {source="DOID:10778"}
xref: SCTID:266238009 {source="DOID:10778", source="MONDO:equivalentTo"}
xref: SCTID:91025000 {source="DOID:10778"}
xref: UMLS:C0155689 {source="MEDGEN:510047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004496 {source="DOID:10778/inferred", source="ICD10CM:I40.1"} ! myocarditis
relationship: excluded_subClassOf MONDO:0002815 {source="DOID:10778", source="https://orcid.org/0000-0001-5208-3432"} ! acute myocarditis
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0001114
name: bacterial myocarditis
def: "Myocarditis that is caused by an infection with a bacterial agent." [NCIT:C128380]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "septic myocarditis" EXACT [DOID:10779]
xref: DOID:10779 {source="MONDO:equivalentTo"}
xref: ICD10CM:I40.0 {source="DOID:10779", source="MONDO:equivalentTo"}
xref: ICD9:422.92 {source="DOID:10779", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:730492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128380 {source="MONDO:equivalentTo"}
xref: SCTID:194959002 {source="DOID:10779"}
xref: SCTID:64043005 {source="DOID:10779", source="MONDO:equivalentTo"}
xref: UMLS:C1384588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:730492"}
is_a: MONDO:0004496 {source="DOID:10779/inferred", source="ICD10CM:I40.0", source="NCIT:C128380"} ! myocarditis
relationship: excluded_subClassOf MONDO:0002815 {source="DOID:10779", source="https://orcid.org/0000-0001-5208-3432"} ! acute myocarditis

[Term]
id: MONDO:0001115
name: familial polycythemia
def: "Polycythemia that occurs in groups of related individuals." [NCIT:C26955]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythrocytosis, familial" EXACT [OMIMPS:133100]
synonym: "familial erythrocytosis" RELATED EXCLUDE [DOID:10780]
synonym: "familial polycythemia" EXACT [NCIT:C26955]
synonym: "familiar polycythemia" RELATED EXCLUDE [DOID:10780]
synonym: "hereditary polycythemia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "primary polycythemia" NARROW [DOID:10780]
xref: DOID:10780 {source="MONDO:equivalentTo"}
xref: ICD10CM:D75.0 {source="DOID:10780"}
xref: ICD9:289.6 {source="DOID:10780"}
xref: MEDGEN:57520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536842 {source="DOID:10780"}
xref: NANDO:2100187 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200644 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26955 {source="MONDO:equivalentTo", source="DOID:10780"}
xref: OMIMPS:133100 {source="MONDO:equivalentTo", source="DOID:10780"}
xref: SCTID:154840005 {source="DOID:10780"}
xref: SCTID:17342003 {source="DOID:10780"}
xref: SCTID:267571003 {source="DOID:10780"}
xref: UMLS:C0152264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57520"}
is_a: MONDO:0005571 {source="DOID:10780", source="MONDO:Redundant", source="NCIT:C26955/inferred"} ! polycythemia
intersection_of: MONDO:0005571 ! polycythemia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:133100"} ! inherited

[Term]
id: MONDO:0001116
name: mesenteric lymphadenitis
def: "Inflammation of the mesenteric lymph nodes." [NCIT:P378]
synonym: "lymphadenitis (disease) of mesentery" EXACT []
synonym: "mesenteric adenitis" EXACT [DOID:10782]
synonym: "mesenteric lymphadenitis" EXACT [DOID:10782]
synonym: "mesentery lymphadenitis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:10782 {source="MONDO:equivalentTo"}
xref: ICD10CM:I88.0 {source="DOID:10782"}
xref: ICD9:289.2 {source="DOID:10782"}
xref: MEDGEN:6318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008640 {source="MONDO:equivalentTo", source="DOID:10782"}
xref: NCIT:C26830 {source="MONDO:equivalentTo", source="DOID:10782"}
xref: SCTID:154837005 {source="DOID:10782"}
xref: SCTID:191376006 {source="DOID:10782"}
xref: SCTID:191378007 {source="DOID:10782"}
xref: SCTID:267548000 {source="DOID:10782"}
xref: SCTID:44897000 {source="MONDO:equivalentTo", source="DOID:10782"}
xref: UMLS:C0025469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6318"}
is_a: MONDO:0002052 {source="DOID:10782", source="MESH:D008640", source="MONDO:Redundant", source="NCIT:C26830"} ! lymphadenitis
intersection_of: MONDO:0002052 ! lymphadenitis
intersection_of: disease_has_location UBERON:0002095 ! mesentery

[Term]
id: MONDO:0001117
name: methemoglobinemia
def: "An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood." [NCIT:C34817]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "methemoglobinemias" EXACT [MESH:D008708]
xref: DOID:10783 {source="MONDO:equivalentTo"}
xref: ICD10CM:D74 {source="DOID:10783"}
xref: ICD10CM:D74.9 {source="DOID:10783"}
xref: ICD9:289.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10783"}
xref: MedDRA:10027496
xref: MEDGEN:6339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008708 {source="MONDO:equivalentTo", source="DOID:10783"}
xref: NCIT:C34817 {source="MONDO:equivalentTo", source="DOID:10783"}
xref: SCTID:124965005 {source="DOID:10783"}
xref: SCTID:131171006 {source="DOID:10783"}
xref: SCTID:191386007 {source="DOID:10783"}
xref: SCTID:191393006 {source="DOID:10783"}
xref: SCTID:267549008 {source="DOID:10783"}
xref: SCTID:38959009 {source="MONDO:equivalentTo", source="DOID:10783"}
xref: UMLS:C0025637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6339"}
is_a: MONDO:0044348 ! hemoglobinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4614" xsd:anyURI

[Term]
id: MONDO:0001118
name: Queensland tick typhus
def: "A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy." [DOID:10784, http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29, http://www.cdc.gov/otherspottedfever/index.html]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Australian tick typhus" RELATED [DOID:10784]
synonym: "North Queensland tick typhus" RELATED [DOID:10784]
synonym: "Rickettsia australis spotted fever" EXACT [DOID:10784]
xref: DOID:10784 {source="MONDO:equivalentTo"}
xref: ICD9:082.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:755996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:68981009 {source="MONDO:equivalentTo"}
xref: UMLS:C2979888 {source="MEDGEN:755996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001195 {source="DOID:10784"} ! spotted fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:787 ! Rickettsia australis
relationship: transmitted_by NCBITaxon:65647 ! Ixodes holocyclus

[Term]
id: MONDO:0001119
name: premature menopause
def: "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." [NCIT:C80099]
subset: otar {source="MONDO:OTAR"}
synonym: "early menopause" EXACT [NCIT:C80099]
synonym: "menopause - premature" EXACT [DOID:10787]
synonym: "menopause praecox" EXACT [DOID:10787]
synonym: "POF" EXACT ABBREVIATION [NCIT:C80099]
synonym: "premature menopause" EXACT [NCIT:C80099]
synonym: "premature ovarian failure" EXACT [NCIT:C80099]
xref: DOID:10787 {source="MONDO:equivalentTo"}
xref: EFO:0009005 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E28.31 {source="DOID:10787"}
xref: ICD10CM:E28.319 {source="DOID:10787"}
xref: ICD9:256.31 {source="DOID:10787"}
xref: ICD9:256.39
xref: MEDGEN:9963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008594 {source="DOID:10787", source="MONDO:equivalentTo"}
xref: NCIT:C80099 {source="DOID:10787", source="MONDO:equivalentTo"}
xref: SCTID:154713003 {source="DOID:10787"}
xref: SCTID:190544007 {source="DOID:10787"}
xref: SCTID:237788002 {source="MONDO:equivalentTo"}
xref: SCTID:237789005 {source="DOID:10787"}
xref: SCTID:267486007 {source="DOID:10787"}
xref: SCTID:373717006 {source="DOID:10787"}
xref: SCTID:74296006 {source="DOID:10787"}
xref: UMLS:C0025322 {source="MEDGEN:9963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001889 {source="DOID:10787", source="NCIT:C80099"} ! ovarian dysfunction
is_a: MONDO:0005387 ! primary ovarian failure
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0001120
name: chronic frontal sinusitis
def: "Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:P378]
synonym: "frontal sinusitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:10790 {source="MONDO:equivalentTo"}
xref: ICD10CM:J32.1 {source="MONDO:equivalentTo", source="DOID:10790"}
xref: ICD9:473.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10790"}
xref: MEDGEN:3455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34473 {source="MONDO:equivalentTo", source="DOID:10790"}
xref: SCTID:155527004 {source="DOID:10790"}
xref: SCTID:195786002 {source="DOID:10790"}
xref: SCTID:60130002 {source="MONDO:equivalentTo", source="DOID:10790"}
xref: UMLS:C0008683 {source="MONDO:equivalentTo", source="MEDGEN:3455", source="MONDO:MEDGEN"}
is_a: MONDO:0001121 {source="DOID:10790", source="MONDO:Redundant", source="NCIT:C34473"} ! frontal sinusitis
is_a: MONDO:0006031 {source="MONDO:Redundant", source="NCIT:C34473"} ! chronic rhinosinusitis
intersection_of: MONDO:0001121 ! frontal sinusitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001121
name: frontal sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus." [NCIT:P378]
xref: DOID:10791 {source="MONDO:equivalentTo"}
xref: ICD10CM:J32.1 {source="DOID:10791"}
xref: MEDGEN:8919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015522 {source="MONDO:equivalentTo", source="DOID:10791"}
xref: NCIT:C34626 {source="MONDO:equivalentTo", source="DOID:10791"}
xref: SCTID:195786002 {source="DOID:10791"}
xref: SCTID:275485006 {source="DOID:10791"}
xref: SCTID:78737005 {source="MONDO:equivalentTo", source="DOID:10791"}
xref: UMLS:C0016735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8919"}
is_a: MONDO:0005961 {source="DOID:10791", source="MESH:D015522", source="MONDO:Redundant", source="NCIT:C34626"} ! sinusitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001760 ! frontal sinus

[Term]
id: MONDO:0001122
name: chronic maxillary sinusitis
def: "Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:P378]
synonym: "chronic antritis" EXACT [DOID:10792]
synonym: "maxillary sinusitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:10792 {source="MONDO:equivalentTo"}
xref: ICD10CM:J32.0 {source="MONDO:equivalentTo", source="DOID:10792"}
xref: ICD9:473.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10792"}
xref: MEDGEN:966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34477 {source="MONDO:equivalentTo", source="DOID:10792"}
xref: SCTID:155526008 {source="DOID:10792"}
xref: SCTID:195785003 {source="DOID:10792"}
xref: SCTID:35923002 {source="MONDO:equivalentTo", source="DOID:10792"}
xref: SCTID:8299006 {source="DOID:10792"}
xref: UMLS:C0008698 {source="MEDGEN:966", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005842 {source="DOID:10792", source="MONDO:Redundant", source="NCIT:C34477"} ! maxillary sinusitis
intersection_of: MONDO:0005842 ! maxillary sinusitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001123
name: chronic sphenoidal sinusitis
def: "Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:P378]
synonym: "chronic sphenoid sinusitis" EXACT [MONDO:design_pattern]
synonym: "sphenoid sinusitis, chronic" EXACT [MONDO:patterns/chronic]
synonym: "sphenoidal sinus-chr." EXACT [DOID:10793]
xref: DOID:10793 {source="MONDO:equivalentTo"}
xref: ICD10CM:J32.3 {source="MONDO:equivalentTo", source="DOID:10793"}
xref: ICD9:473.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10793"}
xref: MEDGEN:3087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34480 {source="MONDO:equivalentTo", source="DOID:10793"}
xref: SCTID:155528009 {source="DOID:10793"}
xref: SCTID:266384001 {source="DOID:10793"}
xref: SCTID:38961000 {source="MONDO:equivalentTo", source="DOID:10793"}
xref: UMLS:C0008712 {source="MEDGEN:3087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005964 {source="DOID:10793", source="MONDO:Redundant", source="NCIT:C34480"} ! sphenoid sinusitis
intersection_of: MONDO:0005964 ! sphenoid sinusitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001124
name: obsolete filariasis
is_obsolete: true
replaced_by: MONDO:0016075

[Term]
id: MONDO:0001125
name: acute gonococcal epididymo-orchitis
def: "Acute form of gonococcal epididymo-orchitis." [MONDO:patterns/acute]
synonym: "gonococcal epididymo-orchitis" RELATED EXCLUDE [DOID:10802]
synonym: "gonococcal epididymo-orchitis (acute)" EXACT [DOID:10802, ICD9CM:098.13]
synonym: "gonococcal epididymo-orchitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10802 {source="MONDO:equivalentTo"}
xref: ICD9:098.13 {source="MONDO:equivalentTo", source="DOID:10802", source="MONDO:i2s"}
xref: MEDGEN:509195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186912008 {source="DOID:10802"}
xref: SCTID:30168008 {source="MONDO:equivalentTo", source="DOID:10802"}
xref: UMLS:C0153193 {source="MEDGEN:509195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021158 {source="MONDO:Redundant"} ! gonococcal epididymo-orchitis
intersection_of: MONDO:0021158 ! gonococcal epididymo-orchitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001126
name: gastric ulcer
def: "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute gastric ulcer with haemorrhage and obstruction" NARROW OMO:0003005 []
synonym: "acute gastric ulcer with haemorrhage and perforation" NARROW OMO:0003005 []
synonym: "acute gastric ulcer with haemorrhage and perforation, with obstruction" NARROW OMO:0003005 []
synonym: "acute gastric ulcer with haemorrhage and perforation, without mention of obstruction" NARROW OMO:0003005 []
synonym: "acute gastric ulcer with haemorrhage and with perforation but without obstruction" NARROW OMO:0003005 []
synonym: "acute gastric ulcer with hemorrhage and obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and perforation" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage and with perforation but without obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage, with obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with hemorrhage, with perforation and with obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with perforation" NARROW [DOID:10808]
synonym: "acute gastric ulcer with perforation and obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer with perforation, with obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer without haemorrhage and without perforation" NARROW OMO:0003005 []
synonym: "acute gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808]
synonym: "acute gastric ulcer without hemorrhage, without perforation and without obstruction" NARROW [DOID:10808]
synonym: "acute gastric ulcer without mention of haemorrhage or perforation, without mention of obstruction" NARROW OMO:0003005 []
synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" NARROW [DOID:10808]
synonym: "bleeding acute gastric ulcer" NARROW [DOID:10808]
synonym: "chronic gastric ulcer without haemorrhage and without perforation" NARROW OMO:0003005 []
synonym: "chronic gastric ulcer without haemorrhage and without perforation but with obstruction" NARROW OMO:0003005 []
synonym: "chronic gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808]
synonym: "chronic gastric ulcer without hemorrhage and without perforation but with obstruction" NARROW [DOID:10808]
synonym: "chronic gastric ulcer without mention of haemorrhage or perforation, with obstruction" NARROW OMO:0003005 []
synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" NARROW [DOID:10808]
synonym: "gastric ulcer" EXACT [MONDO:ambiguous]
synonym: "gastric ulcer (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "peptic ulcer disease of stomach" EXACT [MONDO:design_pattern]
synonym: "stomach peptic ulcer disease" EXACT [MONDO:patterns/location]
xref: DOID:10808 {source="MONDO:equivalentTo"}
xref: EFO:0009454 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002592 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K25 {source="MONDO:equivalentTo", source="DOID:10808"}
xref: ICD9:531 {source="DOID:10808"}
xref: MEDGEN:21330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013276 {source="MONDO:equivalentTo", source="DOID:10808"}
xref: NCIT:C3388 {source="MONDO:equivalentTo", source="DOID:10808"}
xref: SCTID:155681009 {source="DOID:10808"}
xref: SCTID:155690002 {source="DOID:10808"}
xref: SCTID:196627009 {source="DOID:10808"}
xref: SCTID:196642007 {source="DOID:10808"}
xref: SCTID:196649003 {source="DOID:10808"}
xref: SCTID:196650003 {source="DOID:10808"}
xref: SCTID:266436006 {source="DOID:10808"}
xref: SCTID:397825006 {source="MONDO:equivalentTo", source="DOID:10808"}
xref: SCTID:6034002 {source="DOID:10808"}
xref: UMLS:C0038358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21330"}
is_a: MONDO:0004247 {source="DOID:10808", source="MESH:D013276", source="MONDO:Redundant", source="NCIT:C3388"} ! peptic ulcer disease
is_a: MONDO:0004298 {source="MESH:D013276/inferred", source="MONDO:Redundant", source="NCIT:C3388/inferred"} ! stomach disorder
intersection_of: MONDO:0004247 ! peptic ulcer disease
intersection_of: disease_has_location UBERON:0000945 ! stomach
property_value: IAO:0000589 "gastric ulcer (disease)" xsd:string

[Term]
id: MONDO:0001127
name: tibialis tendinitis
def: "A tendinitis that involves the tibialis." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tendinitis of tibialis" EXACT [MONDO:design_pattern]
synonym: "tibialis tendinitis" EXACT [MONDO:patterns/location]
xref: DOID:10810 {source="MONDO:equivalentTo"}
xref: ICD9:726.72 {source="DOID:10810", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:50127006 {source="DOID:10810", source="MONDO:equivalentTo"}
xref: UMLS:C0158321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510515"}
is_a: MONDO:0004857 {source="DOID:10810", source="MONDO:Redundant"} ! tendinitis
intersection_of: MONDO:0004857 ! tendinitis
intersection_of: disease_has_location UBERON:0008230 ! tibialis

[Term]
id: MONDO:0001128
name: nasal cavity cancer
def: "A malignant neoplasm involving the nasal cavity" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of nasal cavity" EXACT [MONDO:patterns/cancer]
synonym: "malignant nasal cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4918]
synonym: "malignant nasal cavity tumor" EXACT [NCIT:C4918]
synonym: "malignant nasal cavity tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of nasal cavities" EXACT [DOID:10811, ICD9CM:160.0]
synonym: "malignant neoplasm of nasal cavity" EXACT [MONDO:patterns/cancer, NCIT:C4918]
synonym: "malignant neoplasm of the nasal cavity" EXACT [NCIT:C4918]
synonym: "malignant tumor of nasal cavity" EXACT [NCIT:C4918]
synonym: "malignant tumor of the nasal cavity" EXACT [DOID:10811, NCIT:C4918]
synonym: "malignant tumour of nasal cavity" EXACT OMO:0003005 []
synonym: "malignant tumour of the nasal cavity" EXACT OMO:0003005 []
synonym: "nasal cavity cancer" EXACT [MONDO:patterns/location]
xref: DOID:10811 {source="MONDO:equivalentTo"}
xref: ICD10CM:C30.0 {source="DOID:10811"}
xref: ICD9:160.0 {source="DOID:10811", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:152601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4918 {source="DOID:10811", source="MONDO:equivalentTo"}
xref: SCTID:187832001 {source="DOID:10811"}
xref: SCTID:363422006 {source="DOID:10811", source="MONDO:equivalentTo"}
xref: SCTID:93917007 {source="DOID:10811"}
xref: UMLS:C0728864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152601"}
is_a: MONDO:0000376 {source="DOID:10811", source="MONDO:Redundant"} ! respiratory system cancer
is_a: MONDO:0002232 {source="DOID:10811", source="MONDO:Redundant", source="NCIT:C4918/inferred"} ! nasal cavity disorder
is_a: MONDO:0004756 {source="MONDO:Redundant", source="NCIT:C4918"} ! nasal cavity neoplasm
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C4918"} ! head and neck cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0001129
name: nasal cavity olfactory neuroblastoma
def: "An olfactory neuroblastoma arising in the nasal cavity." [NCIT:C7604]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "nasal cavity olfactory neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C7604]
synonym: "olfactory neuroblastoma of nasal cavity" EXACT [NCIT:C7604]
synonym: "olfactory neuroblastoma of the nasal cavity" EXACT [DOID:10812, NCIT:C7604]
xref: DOID:10812 {source="MONDO:equivalentTo"}
xref: MEDGEN:233749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7604 {source="DOID:10812", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233749"}
is_a: MONDO:0001128 {source="DOID:10812", source="MONDO:Redundant", source="NCIT:C7604"} ! nasal cavity cancer
is_a: MONDO:0006329 {source="DOID:10812", source="MONDO:Redundant", source="NCIT:C7604"} ! olfactory neuroblastoma
intersection_of: MONDO:0006329 ! olfactory neuroblastoma
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0001130
name: nasal cavity lymphoma
def: "A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area." [NCIT:C6074]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoma of nasal cavity" EXACT [DOID:10813, NCIT:C6074]
synonym: "lymphoma of the nasal cavity" EXACT [DOID:10813, NCIT:C6074]
synonym: "nasal cavity lymphoma" EXACT [MONDO:patterns/location, NCIT:C6074]
synonym: "primary nasal cavity lymphoma" EXACT [NCIT:C6074]
xref: DOID:10813 {source="MONDO:equivalentTo"}
xref: MEDGEN:233747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6074 {source="MONDO:equivalentTo", source="DOID:10813", source="MONDO:exact-label-match"}
xref: UMLS:C1334921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233747"}
is_a: MONDO:0001128 {source="DOID:10813", source="NCIT:C6074"} ! nasal cavity cancer
is_a: MONDO:0005062 {source="DOID:10813", source="MONDO:Redundant", source="NCIT:C6074/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0001131
name: obsolete duodenum adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006186

[Term]
id: MONDO:0001132
name: sexual sadism disorder
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual." [NCIT:C94358]
synonym: "sexual sadism" EXACT [DOID:10817, NCIT:C94358]
xref: DOID:10817 {source="MONDO:equivalentTo"}
xref: ICD10CM:F65.52 {source="MONDO:equivalentTo", source="DOID:10817"}
xref: ICD9:302.84 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10817"}
xref: MEDGEN:19957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012448 {source="MONDO:equivalentTo", source="DOID:10817"}
xref: NCIT:C94358 {source="MONDO:equivalentTo", source="DOID:10817"}
xref: SCTID:59394009 {source="MONDO:equivalentTo", source="DOID:10817"}
xref: UMLS:C0036913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19957"}
is_a: MONDO:0000595 {source="DOID:10817", source="NCIT:C94358"} ! sexual and gender identity disorders

[Term]
id: MONDO:0001133
name: malignant essential hypertension
def: "Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure." [NCIT:P378]
synonym: "accelerated essential hypertension" EXACT [DOID:10823]
synonym: "malignant essential hypertension" EXACT [DOID:10823, NCIT:C34802]
xref: DOID:10823 {source="MONDO:equivalentTo"}
xref: ICD9:401.0 {source="DOID:10823", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34802 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:1218009 {source="DOID:10823"}
xref: SCTID:78975002 {source="DOID:10823", source="MONDO:equivalentTo"}
xref: UMLS:C0024588 {source="MEDGEN:9866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001134 {source="DOID:10823"} ! essential hypertension
is_a: MONDO:0006846 {source="DOID:10823"} ! malignant hypertension

[Term]
id: MONDO:0001134
name: essential hypertension
def: "Hypertension that presents without an identifiable cause." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "idiopathic hypertension" EXACT [DOID:10825, Wikipedia:Essential_hypertension]
synonym: "primary hypertension" EXACT [DOID:10825, NCIT:C3478, Wikipedia:Essential_hypertension]
xref: DOID:10825 {source="MONDO:equivalentTo"}
xref: ICD10CM:I10 {source="DOID:10825"}
xref: ICD9:401 {source="DOID:10825"}
xref: ICD9:401.9 {source="DOID:10825", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:88442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000075222 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C3478 {source="DOID:10825", source="MONDO:otherHierarchy"}
xref: Orphanet:243761 {source="MONDO:equivalentObsolete", source="DOID:10825"}
xref: SCTID:155296003 {source="DOID:10825"}
xref: SCTID:194757006 {source="DOID:10825"}
xref: SCTID:194760004 {source="DOID:10825"}
xref: SCTID:266228004 {source="DOID:10825"}
xref: SCTID:59621000 {source="DOID:10825", source="MONDO:equivalentTo"}
xref: UMLS:C0085580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88442"}
is_a: MONDO:0005044 {source="DOID:10825", source="EFO:1002032", source="MESH:C562386"} ! hypertensive disorder

[Term]
id: MONDO:0001135
name: voyeurism
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity." [NCIT:P378]
xref: DOID:10834 {source="MONDO:equivalentTo"}
xref: ICD10CM:F65.3 {source="DOID:10834", source="MONDO:equivalentTo"}
xref: ICD9:302.82 {source="DOID:10834", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:12126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014843 {source="DOID:10834", source="MONDO:equivalentTo"}
xref: NCIT:C94360 {source="DOID:10834", source="MONDO:equivalentTo"}
xref: SCTID:192515002 {source="DOID:10834"}
xref: SCTID:63835008 {source="DOID:10834", source="MONDO:equivalentTo"}
xref: UMLS:C0042979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12126"}
is_a: MONDO:0000596 {source="DOID:10834", source="MESH:D014843"} ! paraphilic disorder

[Term]
id: MONDO:0001136
name: chylocele of tunica vaginalis
xref: DOID:10835 {source="MONDO:equivalentTo"}
xref: ICD9:608.84 {source="MONDO:equivalentTo", source="DOID:10835", source="MONDO:i2s"}
xref: MEDGEN:510239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:7864001 {source="MONDO:equivalentTo", source="DOID:10835"}
xref: UMLS:C0156315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510239"}
is_a: MONDO:0003150 {source="DOID:10835"} ! male reproductive system disorder
relationship: disease_has_location UBERON:0006650 ! tunica vaginalis testis

[Term]
id: MONDO:0001137
name: Murray valley encephalitis
def: "An disease caused by infection with Murray Valley encephalitis virus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Australian encephalitis" EXACT [DOID:10842, ICD9CM:062.4]
synonym: "Australian X disease" EXACT [DOID:10842]
synonym: "Murray Valley encephalitis virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Murray Valley encephalitis virus disease or disorder" EXACT []
synonym: "Murray Valley encephalitis virus infectious disease" EXACT []
xref: DOID:10842 {source="MONDO:equivalentTo"}
xref: ICD10CM:A83.4 {source="DOID:10842", source="MONDO:equivalentTo"}
xref: ICD9:062.4 {source="DOID:10842"}
xref: MEDGEN:509134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:66454007 {source="DOID:10842", source="MONDO:equivalentTo"}
xref: UMLS:C0153066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509134"}
is_a: MONDO:0005108 {source="DOID:10842", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11079 ! disease has primary infectious agent Murray Valley encephalitis virus
relationship: transmitted_by NCBITaxon:162997 ! Culex annulirostris

[Term]
id: MONDO:0001138
name: angiodysplasia of intestine
def: "A angiodysplasia that involves the intestine." [MONDO:patterns/location]
synonym: "intestine angiodysplasia" EXACT [MONDO:patterns/location]
xref: DOID:10846 {source="MONDO:equivalentTo"}
xref: ICD9:569.84 {source="MONDO:equivalentTo", source="DOID:10846", source="MONDO:i2s"}
xref: ICD9:569.85 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:540621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:235853006 {source="MONDO:equivalentTo", source="DOID:10846"}
xref: SCTID:32868004 {source="DOID:10846"}
xref: UMLS:C0267367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540621"}
is_a: MONDO:0002322 {source="DOID:10846", source="MONDO:Entailed", source="MONDO:Redundant"} ! angiodysplasia
is_a: MONDO:0005020 {source="DOID:10846", source="MONDO:Entailed", source="MONDO:Redundant"} ! intestinal disorder
intersection_of: MONDO:0002322 ! angiodysplasia
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0001139
name: sexual masochism disorder
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer." [NCIT:C94356]
synonym: "sexual masochism" EXACT [DOID:10849, NCIT:C94356]
xref: DOID:10849 {source="MONDO:equivalentTo"}
xref: ICD10CM:F65.51 {source="MONDO:equivalentTo", source="DOID:10849"}
xref: ICD9:302.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10849"}
xref: MEDGEN:20727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008398 {source="MONDO:equivalentTo", source="DOID:10849"}
xref: NCIT:C94356 {source="MONDO:equivalentTo", source="DOID:10849"}
xref: SCTID:248104007 {source="DOID:10849"}
xref: SCTID:51239001 {source="MONDO:equivalentTo", source="DOID:10849"}
xref: UMLS:C0036908 {source="MEDGEN:20727", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000595 {source="DOID:10849", source="NCIT:C94356"} ! sexual and gender identity disorders

[Term]
id: MONDO:0001140
name: obsolete Edwards syndrome
is_obsolete: true
replaced_by: MONDO:0018071

[Term]
id: MONDO:0001141
name: middle ear cholesterol granuloma
def: "As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response." [NCIT:P378]
synonym: "cholesterin granuloma" EXACT [DOID:10852]
synonym: "cholesterin granuloma of middle ear" EXACT [DOID:10852, ICD9CM:385.82]
xref: DOID:10852 {source="MONDO:equivalentTo"}
xref: ICD9:385.82 {source="DOID:10852", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3655 {source="DOID:10852", source="MONDO:otherHierarchy"}
xref: SCTID:28371001 {source="DOID:10852", source="MONDO:equivalentTo"}
xref: UMLS:C0155492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56364"}
is_a: MONDO:0005441 {source="DOID:10852"} ! otitis media

[Term]
id: MONDO:0001142
name: salivary gland disorder
def: "A disease involving the saliva-secreting gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of saliva-secreting gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of saliva-secreting gland" EXACT []
synonym: "disorder of saliva-secreting gland" EXACT [MONDO:patterns/location_top]
synonym: "non-neoplastic salivary gland disease" NARROW [DOID:10854, NCIT:C27662]
synonym: "saliva-secreting gland disease" EXACT [MONDO:patterns/location]
synonym: "saliva-secreting gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "salivary gland disease" EXACT [DOID:10854, NCIT:C26879]
synonym: "salivary gland disorder" EXACT [NCIT:C26879]
xref: DOID:10854 {source="MONDO:equivalentTo"}
xref: EFO:0008581 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K00-K14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:527.8 {source="DOID:10854", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:527.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:892384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012466 {source="MONDO:equivalentTo"}
xref: NCIT:C26879 {source="MONDO:equivalentTo"}
xref: SCTID:10890000 {source="MONDO:equivalentTo"}
xref: UMLS:C0149772 {source="MEDGEN:892384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006858 {source="DOID:10854", source="EFO:0008581", source="MESH:D012466", source="MONDO:Redundant"} ! mouth disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0001143
name: paralytic strabismus
subset: otar {source="MONDO:OTAR"}
synonym: "incomitant dissociation" EXACT [DOID:10863]
synonym: "paralytic squint" EXACT DEPRECATED [DOID:10863]
xref: DOID:10863 {source="MONDO:equivalentTo"}
xref: EFO:0009678 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0031775
xref: ICD10CM:H49 {source="DOID:10863"}
xref: ICD10CM:H49.9 {source="DOID:10863"}
xref: ICD9:378.5 {source="DOID:10863"}
xref: ICD9:378.50 {source="DOID:10863", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:12942001 {source="DOID:10863"}
xref: SCTID:194117002 {source="DOID:10863"}
xref: SCTID:194120005 {source="DOID:10863"}
xref: SCTID:400942002 {source="DOID:10863", source="MONDO:equivalentTo"}
xref: UMLS:C0152221 {source="MEDGEN:508935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003432 {source="DOID:10863"} ! strabismus

[Term]
id: MONDO:0001144
name: partial third-nerve palsy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "partial third nerve palsy" EXACT [DOID:10864]
synonym: "third nerve palsy with pupil sparing" EXACT [DOID:10864]
synonym: "third or oculomotor nerve palsy, partial" EXACT [DOID:10864, ICD9CM:378.51]
xref: DOID:10864 {source="MONDO:equivalentTo"}
xref: ICD9:378.51 {source="DOID:10864", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:75745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015840 {source="DOID:10864"}
xref: SCTID:194118007 {source="DOID:10864", source="MONDO:equivalentTo"}
xref: SCTID:3171005 {source="DOID:10864"}
xref: SCTID:420289002 {source="DOID:10864"}
xref: UMLS:C0271370 {source="MEDGEN:75745", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001309 {source="https://orcid.org/0000-0002-6601-2165"} ! oculomotor nerve paralysis
relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10864", source="https://orcid.org/0000-0001-5208-3432"} ! paralytic strabismus

[Term]
id: MONDO:0001145
name: total third-nerve palsy
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "third nerve palsy with pupil involved" EXACT [DOID:10866]
synonym: "third or oculomotor nerve palsy, total" EXACT [DOID:10866, ICD9CM:378.52]
synonym: "total third nerve palsy" EXACT [DOID:10866]
xref: DOID:10866 {source="MONDO:equivalentTo"}
xref: ICD9:378.52 {source="DOID:10866", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:124396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015840 {source="DOID:10866"}
xref: SCTID:194119004 {source="DOID:10866", source="MONDO:equivalentTo"}
xref: SCTID:85522003 {source="DOID:10866"}
xref: UMLS:C0271371 {source="MEDGEN:124396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001309 {source="https://orcid.org/0000-0002-6601-2165"} ! oculomotor nerve paralysis
relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10866", source="https://orcid.org/0000-0001-5208-3432"} ! paralytic strabismus

[Term]
id: MONDO:0001146
name: fourth cranial nerve palsy
def: "A cranial nerve palsy that involves the trochlear nerve." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cranial nerve palsy of trochlear nerve" EXACT []
synonym: "fourth nerve palsy" EXACT [DOID:10869]
synonym: "fourth or trochlear nerve palsy" EXACT [DOID:10869, ICD9CM:378.53]
synonym: "trochlear nerve cranial nerve palsy" EXACT [MONDO:patterns/location]
xref: DOID:10869 {source="MONDO:equivalentTo"}
xref: ICD9:378.53 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:75746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:20610004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271375 {source="MEDGEN:75746", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0002782 ! cranial nerve palsy
intersection_of: disease_has_location UBERON:0001644 ! trochlear nerve
relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10869", source="https://orcid.org/0000-0001-5208-3432"} ! paralytic strabismus

[Term]
id: MONDO:0001147
name: meningocele
def: "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." [NCIT:C105595]
subset: otar {source="MONDO:OTAR"}
synonym: "central nervous system meningocele" EXACT [NCIT:C105595]
synonym: "meningocele" EXACT [MONDO:ambiguous, NCIT:C105595]
synonym: "meningocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "spinal meningocele" NARROW []
xref: DOID:1088 {source="MONDO:equivalentTo"}
xref: HP:0002435 {source="MONDO:otherHierarchy"}
xref: MEDGEN:44356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008588 {source="DOID:1088", source="MONDO:equivalentTo"}
xref: NCIT:C101209 {source="MONDO:equivalentTo"}
xref: NCIT:C105595 {source="MONDO:equivalentTo"}
xref: Orphanet:93968 {source="MONDO:equivalentObsolete"}
xref: SCTID:156890007 {source="DOID:1088"}
xref: SCTID:171131006 {source="DOID:1088", source="MONDO:equivalentTo"}
xref: SCTID:253121009 {source="DOID:1088"}
xref: SCTID:268308005 {source="DOID:1088"}
xref: SCTID:32941003 {source="DOID:1088"}
xref: UMLS:C0025299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44356"}
is_a: MONDO:0002320 {source="NCIT:C105595"} ! congenital nervous system disorder
relationship: excluded_subClassOf MONDO:0008449 {source="DOID:1088", source="https://orcid.org/0000-0001-5208-3432"} ! spina bifida
property_value: IAO:0000589 "meningocele (disease)" xsd:string

[Term]
id: MONDO:0001148
name: iliac vein thrombophlebitis
def: "A thrombophlebitis that involves the iliac vein." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "iliac vein thrombophlebitis" EXACT [MONDO:patterns/location]
synonym: "phlebitis and thrombophlebitis of the iliac vein" EXACT [DOID:10880]
synonym: "thrombophlebitis of iliac vein" EXACT [MONDO:design_pattern]
xref: DOID:10880 {source="MONDO:equivalentTo"}
xref: ICD10CM:I80.21 {source="DOID:10880"}
xref: ICD9:451.81 {source="DOID:10880"}
xref: MEDGEN:578307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:195429006 {source="DOID:10880"}
xref: SCTID:42861008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:578307"}
is_a: MONDO:0002800 {source="DOID:10880", source="MONDO:Redundant"} ! thrombophlebitis
intersection_of: MONDO:0002800 ! thrombophlebitis
intersection_of: disease_has_location UBERON:0005610 ! iliac vein

[Term]
id: MONDO:0001149
name: microcephaly
def: "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephalus" EXACT [DOID:10907, ICD9CM:742.1]
synonym: "microcephaly" EXACT [MONDO:ambiguous]
synonym: "microcephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "microencephaly" EXACT [DOID:10907]
xref: DOID:10907 {source="MONDO:equivalentTo"}
xref: HP:0000252 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q02 {source="DOID:10907"}
xref: ICD9:742.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10907"}
xref: MEDGEN:1644158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008831 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10907"}
xref: NCIT:C85874 {source="MONDO:equivalentTo", source="DOID:10907"}
xref: SCTID:156893009 {source="DOID:10907"}
xref: SCTID:1829003 {source="MONDO:equivalentTo", source="DOID:10907"}
xref: SCTID:204030002 {source="DOID:10907"}
xref: SCTID:204031003 {source="DOID:10907"}
xref: UMLS:C4551563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644158"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0002320 {source="DOID:10907", source="https://orcid.org/0000-0001-5208-3432"} ! congenital nervous system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "microcephaly (disease)" xsd:string

[Term]
id: MONDO:0001150
name: hydrocephalus
def: "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain." [NCIT:C3111]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive" NARROW [DOID:10908, OMIM:236600]
synonym: "hydrocephalus, X-linked" NARROW [DOID:10908, MESH:C536078]
xref: DOID:10908 {source="MONDO:equivalentTo"}
xref: ICD10CM:G91 {source="MONDO:equivalentTo", source="DOID:10908"}
xref: ICD10CM:G91.9 {source="DOID:10908"}
xref: MEDGEN:9335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006849 {source="MONDO:equivalentTo", source="DOID:10908"}
xref: NCIT:C3111 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10908"}
xref: Orphanet:2182 {source="DOID:10908"}
xref: Orphanet:2185 {source="DOID:10908"}
xref: SCTID:154995000 {source="DOID:10908"}
xref: SCTID:154997008 {source="DOID:10908"}
xref: SCTID:192807008 {source="DOID:10908"}
xref: SCTID:230745008 {source="MONDO:equivalentTo", source="DOID:10908"}
xref: SCTID:267687006 {source="DOID:10908"}
xref: UMLS:C0020255 {source="MEDGEN:9335", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 ! brain disorder
relationship: disease_has_feature HP:0000238 ! Hydrocephalus
relationship: excluded_subClassOf MONDO:0005559 {source="DOID:10908", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease

[Term]
id: MONDO:0001151
name: benign essential hypertension
def: "A condition of mild to moderate high blood pressure that has no identifiable cause." [NCIT:P378]
synonym: "benign essential hypertension" EXACT [DOID:10913, NCIT:C3656]
xref: DOID:10913 {source="MONDO:equivalentTo"}
xref: ICD9:401.1 {source="DOID:10913", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3656 {source="DOID:10913", source="MONDO:otherHierarchy"}
xref: SCTID:1201005 {source="DOID:10913", source="MONDO:equivalentTo"}
xref: SCTID:194758001 {source="DOID:10913"}
xref: UMLS:C0155583 {source="MEDGEN:56371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001134 {source="DOID:10913"} ! essential hypertension

[Term]
id: MONDO:0001152
name: amnestic disorder
def: "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "amnesia" EXACT [DOID:10914]
synonym: "amnesic syndrome" RELATED []
synonym: "amnestic syndrome" EXACT [DOID:10914, NCIT:C35764]
synonym: "Korsakoff's psychosis or syndrome" EXACT [DOID:10914]
xref: DOID:10914 {source="MONDO:equivalentTo"}
xref: ICD10CM:R41.3 {source="DOID:10914"}
xref: ICD9:294.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10914"}
xref: MEDGEN:1882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000647 {source="DOID:10914"}
xref: NCIT:C2867 {source="MONDO:otherHierarchy", source="DOID:10914"}
xref: SCTID:162199006 {source="DOID:10914"}
xref: SCTID:247606008 {source="DOID:10914"}
xref: SCTID:3298001 {source="MONDO:equivalentTo", source="DOID:10914"}
xref: SCTID:386807006 {source="DOID:10914"}
xref: SCTID:48167000 {source="DOID:10914"}
xref: SCTID:78461004 {source="DOID:10914"}
xref: UMLS:C0002625 {source="MONDO:equivalentTo", source="MEDGEN:1882", source="MONDO:MEDGEN"}
is_a: MONDO:0002039 {source="DOID:10914", source="EFO:1001454", source="MESH:D000647"} ! cognitive disorder
relationship: disease_disrupts GO:0007613 ! memory

[Term]
id: MONDO:0001153
name: obsolete gender dysphoria
def: "OBSOLETE. A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)" [MESH:D000068116]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: none-
synonym: "transsexualism" RELATED []
xref: DOID:10919 {source="MONDO:obsoleteEquivalentObsolete"}
xref: ICD9:302.50 {source="DOID:10919"}
xref: MESH:D000068116 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:459690 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:191782007 {source="DOID:10919"}
xref: SCTID:93461009 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6366" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0001154
name: Siberian tick typhus
def: "A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash." [DOID:10921, http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29, http://www.cdc.gov/otherspottedfever/index.html]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Manchurian typhus" EXACT [DOID:10921]
synonym: "North Asian tick fever" EXACT [DOID:10921, ICD9CM:082.2]
synonym: "North Asian tick fever (disorder) [ambiguous]" EXACT [DOID:10921]
synonym: "North Asian tick typhus" EXACT [DOID:10921]
synonym: "Rickettsia sibirica spotted fever" EXACT [DOID:10921]
xref: DOID:10921 {source="MONDO:equivalentTo"}
xref: ICD10CM:A77.2 {source="DOID:10921"}
xref: ICD9:082.2 {source="DOID:10921", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:639822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186781003 {source="DOID:10921", source="MONDO:equivalentTo"}
xref: SCTID:186782005 {source="DOID:10921"}
xref: SCTID:186783000 {source="DOID:10921"}
xref: SCTID:7692008 {source="DOID:10921"}
xref: UMLS:C0549160 {source="MEDGEN:639822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001195 {source="DOID:10921"} ! spotted fever
intersection_of: MONDO:0005550 {source="MONDO:Wikidata"} ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:35793 {source="MONDO:Wikidata"} ! Rickettsia sibirica
relationship: disease_has_infectious_agent NCBITaxon:35793 {source="MONDO:Wikidata"} ! Rickettsia sibirica
relationship: transmitted_by NCBITaxon:49202 ! Dermacentor marginatus
relationship: transmitted_by NCBITaxon:523089 ! Haemaphysalis concinna

[Term]
id: MONDO:0001155
name: gastrojejunal ulcer
synonym: "acute gastrojejunal ulcer with haemorrhage" EXACT OMO:0003005 []
synonym: "acute gastrojejunal ulcer with haemorrhage and obstruction" EXACT OMO:0003005 []
synonym: "acute gastrojejunal ulcer with haemorrhage and perforation" EXACT OMO:0003005 []
synonym: "acute gastrojejunal ulcer with haemorrhage and perforation, with obstruction" EXACT OMO:0003005 []
synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with hemorrhage and obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with hemorrhage and perforation" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with perforation" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with perforation and obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT [DOID:10927, ICD9CM:534.11]
synonym: "acute gastrojejunal ulcer without haemorrhage and without perforation" EXACT OMO:0003005 []
synonym: "acute gastrojejunal ulcer without hemorrhage and without perforation" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction" EXACT [DOID:10927]
synonym: "acute gastrojejunal ulcer without mention of haemorrhage or perforation, without mention of obstruction" EXACT OMO:0003005 []
synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [DOID:10927, ICD9CM:534.30]
synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT [DOID:10927, ICD9CM:534.01]
synonym: "chronic gastrojejunal ulcer without haemorrhage and without perforation" EXACT OMO:0003005 []
synonym: "chronic gastrojejunal ulcer without hemorrhage and without perforation" EXACT [DOID:10927]
synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction" EXACT [DOID:10927]
synonym: "chronic gastrojejunal ulcer without mention of haemorrhage or perforation, without mention of obstruction" EXACT OMO:0003005 []
synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [DOID:10927, ICD9CM:534.70]
xref: DOID:10927 {source="MONDO:equivalentTo"}
xref: ICD10CM:K28.0 {source="MONDO:equivalentTo", source="DOID:10927"}
xref: ICD9:534.0 {source="DOID:10927"}
xref: MEDGEN:730503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196709002 {source="DOID:10927"}
xref: SCTID:4269005 {source="MONDO:equivalentTo"}
xref: SCTID:63954007 {source="DOID:10927"}
xref: UMLS:C1384631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:730503"}
is_a: MONDO:0004247 {source="DOID:10927"} ! peptic ulcer disease

[Term]
id: MONDO:0001156
name: borderline personality disorder
def: "A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior." [NCIT:P378]
synonym: "borderline personality disorder" EXACT [MONDO:ambiguous]
synonym: "borderline personality disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "BPD" EXACT ABBREVIATION [NCIT:C92633]
xref: DOID:10930 {source="MONDO:equivalentTo"}
xref: HP:0012076 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F60.3 {source="DOID:10930"}
xref: ICD9:301.83 {source="DOID:10930", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001883 {source="DOID:10930", source="MONDO:equivalentTo"}
xref: NCIT:C92633 {source="DOID:10930", source="MONDO:equivalentTo"}
xref: SCTID:192488005 {source="DOID:10930"}
xref: SCTID:20010003 {source="DOID:10930", source="MONDO:equivalentTo"}
xref: UMLS:C0006012 {source="MEDGEN:14197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002028 {source="DOID:10930", source="NCIT:C92633"} ! personality disorder
property_value: IAO:0000589 "borderline personality disorder (disease)" xsd:string

[Term]
id: MONDO:0001157
name: dependent personality disorder
def: "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life." [NCIT:P378]
xref: DOID:10931 {source="MONDO:equivalentTo"}
xref: ICD10CM:F60.7 {source="DOID:10931", source="MONDO:equivalentTo"}
xref: ICD9:301.6 {source="DOID:10931", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003859 {source="DOID:10931", source="MONDO:equivalentTo"}
xref: NCIT:C92637 {source="DOID:10931", source="MONDO:equivalentTo"}
xref: SCTID:191768007 {source="DOID:10931"}
xref: SCTID:192492003 {source="DOID:10931"}
xref: SCTID:84466009 {source="DOID:10931", source="MONDO:equivalentTo"}
xref: UMLS:C0011548 {source="MONDO:equivalentTo", source="MEDGEN:4225", source="MONDO:MEDGEN"}
is_a: MONDO:0002028 {source="DOID:10931", source="NCIT:C92637"} ! personality disorder

[Term]
id: MONDO:0001158
name: obsessive-compulsive personality disorder
def: "A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics." [NCIT:P378]
synonym: "anankastic personality disorder" RELATED [DOID:10932]
synonym: "obsessional personality" RELATED [DOID:10932]
synonym: "OCD" EXACT ABBREVIATION [NCIT:C92638]
synonym: "OCPD" EXACT ABBREVIATION [DOID:10932]
xref: DOID:10932 {source="MONDO:equivalentTo"}
xref: ICD10CM:F60.5 {source="DOID:10932", source="MONDO:equivalentTo"}
xref: ICD9:301.4 {source="DOID:10932", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:40432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003193 {source="DOID:10932", source="MONDO:equivalentTo"}
xref: NCIT:C92638 {source="DOID:10932", source="MONDO:equivalentTo"}
xref: SCTID:112091009 {source="DOID:10932"}
xref: SCTID:1376001 {source="DOID:10932", source="MONDO:equivalentTo"}
xref: SCTID:154899005 {source="DOID:10932"}
xref: SCTID:191760000 {source="DOID:10932"}
xref: SCTID:191761001 {source="DOID:10932"}
xref: SCTID:191762008 {source="DOID:10932"}
xref: SCTID:192490006 {source="DOID:10932"}
xref: SCTID:271200007 {source="DOID:10932"}
xref: UMLS:C0009595 {source="MEDGEN:40432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002028 {source="DOID:10932", source="NCIT:C92638"} ! personality disorder
relationship: realized_in MFOMD:0000107 ! compulsion
relationship: realized_in MFOMD:0000109 ! obsession

[Term]
id: MONDO:0001159
name: multiple personality disorder
def: "A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition." [NCIT:P378]
synonym: "dissociative identity disorder" EXACT [DOID:10934, ICD9CM:300.14]
xref: DOID:10934 {source="MONDO:equivalentTo"}
xref: ICD10CM:F44.81 {source="MONDO:equivalentTo", source="DOID:10934"}
xref: ICD9:300.14 {source="MONDO:equivalentTo", source="DOID:10934", source="MONDO:i2s"}
xref: MEDGEN:44520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009105 {source="MONDO:equivalentTo", source="DOID:10934"}
xref: NCIT:C94330 {source="MONDO:equivalentTo", source="DOID:10934"}
xref: SCTID:192428007 {source="DOID:10934"}
xref: SCTID:31611000 {source="MONDO:equivalentTo", source="DOID:10934"}
xref: UMLS:C0026773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44520"}
is_a: MONDO:0001160 {source="DOID:10934", source="MESH:D009105", source="NCIT:C94330"} ! dissociative disorder

[Term]
id: MONDO:0001160
name: dissociative disorder
def: "A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dissociative disease" EXACT [DOID:10935]
synonym: "dissociative reaction" EXACT [DOID:10935]
xref: DOID:10935 {source="MONDO:equivalentTo"}
xref: ICD10CM:F44.9 {source="DOID:10935"}
xref: ICD10CM:F48.9 {source="DOID:10935"}
xref: ICD9:300.15 {source="DOID:10935"}
xref: ICD9:300.9 {source="DOID:10935", source="MONDO:directSiblingOf"}
xref: MEDGEN:3871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004213 {source="DOID:10935", source="MONDO:equivalentTo"}
xref: NCIT:C92197 {source="DOID:10935", source="MONDO:equivalentTo"}
xref: SCTID:154883004 {source="DOID:10935"}
xref: SCTID:44376007 {source="DOID:10935"}
xref: UMLS:C0012746 {source="MEDGEN:3871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="DOID:10935", source="MESH:D004213", source="NCIT:C92197"} ! psychiatric disorder
relationship: realized_in MFOMD:0000119 ! dissociation

[Term]
id: MONDO:0001161
name: schizoid personality disorder
def: "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:10936 {source="MONDO:equivalentTo"}
xref: ICD10CM:F60.1 {source="MONDO:equivalentTo", source="DOID:10936"}
xref: ICD9:301.2 {source="DOID:10936"}
xref: ICD9:301.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10936"}
xref: MEDGEN:20662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012557 {source="MONDO:equivalentTo", source="DOID:10936"}
xref: NCIT:C92631 {source="MONDO:equivalentTo", source="DOID:10936"}
xref: SCTID:191756003 {source="DOID:10936"}
xref: SCTID:191758002 {source="DOID:10936"}
xref: SCTID:192486009 {source="DOID:10936"}
xref: SCTID:52954000 {source="MONDO:equivalentTo", source="DOID:10936"}
xref: UMLS:C0036339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20662"}
is_a: MONDO:0002028 {source="DOID:10936", source="NCIT:C92631"} ! personality disorder
relationship: disease_has_feature HP:0000741 ! Apathy

[Term]
id: MONDO:0001162
name: impulse control disorder
def: "A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ICD" EXACT ABBREVIATION [NCIT:C34723]
synonym: "impulse-control disorder" EXACT [NCIT:C34723]
xref: DOID:10937 {source="MONDO:equivalentTo"}
xref: ICD10CM:F63.9 {source="DOID:10937"}
xref: ICD9:312.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10937"}
xref: ICD9:312.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007174 {source="DOID:10937"}
xref: NCIT:C34723 {source="MONDO:equivalentTo", source="DOID:10937"}
xref: SCTID:192095006 {source="DOID:10937"}
xref: SCTID:192098008 {source="DOID:10937"}
xref: SCTID:66347000 {source="MONDO:equivalentTo", source="DOID:10937"}
xref: UMLS:C0021122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5769"}
is_a: MONDO:0002025 {source="DOID:10937", source="NCIT:C34723"} ! psychiatric disorder

[Term]
id: MONDO:0001163
name: paranoid personality disorder
def: "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:10938 {source="MONDO:equivalentTo"}
xref: ICD10CM:F60.0 {source="MONDO:equivalentTo", source="DOID:10938"}
xref: ICD9:301.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10938"}
xref: MEDGEN:45321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010260 {source="MONDO:equivalentTo", source="DOID:10938"}
xref: NCIT:C92630 {source="MONDO:equivalentTo", source="DOID:10938"}
xref: SCTID:13601005 {source="MONDO:equivalentTo", source="DOID:10938"}
xref: SCTID:154896003 {source="DOID:10938"}
xref: SCTID:191750009 {source="DOID:10938"}
xref: SCTID:192485008 {source="DOID:10938"}
xref: SCTID:270529002 {source="DOID:10938"}
xref: UMLS:C0030477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45321"}
is_a: MONDO:0002028 {source="DOID:10938", source="NCIT:C92630"} ! personality disorder

[Term]
id: MONDO:0001164
name: antisocial personality disorder
def: "A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)" [NCIT:P378]
synonym: "asocial personality" EXACT [DOID:10939]
synonym: "dissocial personality disorder" EXACT [DOID:10939]
synonym: "psychopath.personality" EXACT [DOID:10939]
synonym: "psychopathic personality" EXACT [DOID:10939]
synonym: "psychopathic personality disorder" EXACT [DOID:10939]
synonym: "psychopathy" EXACT [NCIT:C88413]
synonym: "sociopathic personality" EXACT [DOID:10939]
synonym: "Sociopathy" EXACT [NCIT:C88413]
xref: DOID:10939 {source="MONDO:equivalentTo"}
xref: ICD10CM:F60.2 {source="MONDO:equivalentTo", source="DOID:10939"}
xref: ICD9:301.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10939"}
xref: MEDGEN:1611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000987 {source="MONDO:equivalentTo", source="DOID:10939"}
xref: NCIT:C88413 {source="MONDO:equivalentTo", source="DOID:10939"}
xref: SCTID:191769004 {source="DOID:10939"}
xref: SCTID:191777000 {source="DOID:10939"}
xref: SCTID:192487000 {source="DOID:10939"}
xref: SCTID:26665006 {source="MONDO:equivalentTo", source="DOID:10939"}
xref: SCTID:268759009 {source="DOID:10939"}
xref: UMLS:C0003431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1611"}
is_a: MONDO:0002028 {source="DOID:10939", source="NCIT:C88413"} ! personality disorder

[Term]
id: MONDO:0001165
name: tongue disorder
def: "A disease involving the tongue." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of tongue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of tongue" EXACT []
synonym: "disorder of tongue" EXACT [MONDO:patterns/location_top]
synonym: "tongue disease" EXACT [MONDO:patterns/location]
synonym: "tongue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:10944 {source="MONDO:equivalentTo"}
xref: ICD10CM:K14 {source="DOID:10944"}
xref: ICD10CM:K14.9 {source="DOID:10944"}
xref: ICD9:529.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:529.9 {source="DOID:10944", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014060 {source="DOID:10944", source="MONDO:equivalentTo"}
xref: NCIT:C173793 {source="MONDO:equivalentTo"}
xref: SCTID:155533008 {source="DOID:10944"}
xref: SCTID:155665004 {source="DOID:10944"}
xref: SCTID:155667007 {source="DOID:10944"}
xref: SCTID:196595001 {source="DOID:10944"}
xref: SCTID:266496009 {source="DOID:10944"}
xref: SCTID:69244009 {source="DOID:10944", source="MONDO:equivalentTo"}
xref: UMLS:C0040409 {source="MEDGEN:52777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006858 {source="DOID:10944", source="MESH:D014060", source="MONDO:Redundant"} ! mouth disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001723 ! tongue

[Term]
id: MONDO:0001166
name: nephritis
def: "Inflammation of renal tissue." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of kidney" EXACT []
synonym: "kidney inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10952 {source="MONDO:equivalentTo"}
xref: EFO:1002050 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N05 {source="DOID:10952"}
xref: ICD10CM:N08 {source="DOID:10952"}
xref: ICD9:583.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009393 {source="DOID:10952", source="MONDO:equivalentTo"}
xref: NCIT:C26833 {source="DOID:10952", source="MONDO:equivalentTo"}
xref: SCTID:155853001 {source="DOID:10952"}
xref: SCTID:266615001 {source="DOID:10952"}
xref: SCTID:274107001 {source="DOID:10952"}
xref: SCTID:52845002 {source="DOID:10952", source="MONDO:equivalentTo"}
xref: UMLS:C0027697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14328"}
is_a: MONDO:0005240 {source="DOID:10952", source="MESH:D009393", source="MONDO:Redundant", source="NCIT:C26833/inferred"} ! kidney disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002113 ! kidney

[Term]
id: MONDO:0001167
name: spastic diplegia
alt_id: MONDO:0022698
def: "A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy." [NCIT:C34781]
synonym: "cerebral palsy spastic diplegic" RELATED [GARD:0009637]
synonym: "cerebral spastic infantile paralysis" EXACT [DOID:10965]
synonym: "diplegic infantile cerebral palsy" EXACT [DOID:10965, ICD9CM:343.0]
synonym: "infantile diplegic cerebral palsy" EXACT [DOID:10965]
synonym: "infantile spastic cerebral palsy" EXACT [DOID:10965]
synonym: "Little disease" EXACT []
synonym: "Little's disease" EXACT [DOID:10965, NCIT:C34781]
xref: DOID:10965 {source="MONDO:equivalentTo"}
xref: ICD10CM:G80.1 {source="DOID:10965"}
xref: ICD9:343.0 {source="DOID:10965"}
xref: MEDGEN:124371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537945 {source="MONDO:equivalentTo"}
xref: MESH:D002547 {source="DOID:10965"}
xref: NCIT:C34781 {source="DOID:10965", source="MONDO:equivalentTo"}
xref: SCTID:1178005 {source="DOID:10965"}
xref: SCTID:192947000 {source="DOID:10965"}
xref: SCTID:275469001 {source="DOID:10965"}
xref: SCTID:281411007 {source="DOID:10965", source="MONDO:equivalentTo"}
xref: SCTID:58193001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="UMLS:C0270804"}
xref: UMLS:C0270804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124371"}
is_a: MONDO:0000396 {source="DOID:10965", source="Wikipedia:Spastic_cerebral_palsy"} ! spastic cerebral palsy
is_a: MONDO:0006497 {source="DOID:10965/inferred", source="MESH:C537945", source="MONDO:0001167/inferred", source="MONDO:Redundant", source="NCIT:C34781"} ! cerebral palsy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy" xsd:anyURI {source="GARD:0009637"}

[Term]
id: MONDO:0001168
name: spastic hemiplegia
def: "A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body." [NCIT:C116905]
synonym: "congenital hemiplegia" RELATED [DOID:10967]
synonym: "hemiplegic cerebral palsy" EXACT [DOID:10967]
synonym: "hemiplegic infantile cerebral palsy" EXACT [DOID:10967, ICD9CM:343.1]
synonym: "spastic hemiplegic cerebral palsy" EXACT [DOID:10967]
xref: DOID:10967 {source="MONDO:equivalentTo"}
xref: ICD9:342.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:343.1 {source="DOID:10967"}
xref: MEDGEN:56345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116905 {source="MONDO:equivalentTo"}
xref: SCTID:258714003 {source="DOID:10967"}
xref: SCTID:43486001 {source="DOID:10967"}
xref: SCTID:79633009 {source="MONDO:equivalentTo"}
xref: UMLS:C0154694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56345"}
is_a: MONDO:0000396 {source="DOID:10967", source="Wikipedia:Spastic_cerebral_palsy"} ! spastic cerebral palsy
is_a: MONDO:0006497 {source="NCIT:C116905"} ! cerebral palsy
relationship: disease_has_feature MONDO:0001170 ! hemiplegia

[Term]
id: MONDO:0001169
name: spastic monoplegia
def: "A spastic cerebral palsy that affects only one limb." [DOID:10968, http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic]
synonym: "infantile monoplegic cerebral palsy" EXACT [DOID:10968]
synonym: "monoplegic infantile cerebral palsy" EXACT [DOID:10968, ICD9CM:343.3]
synonym: "spastic monoplegic cerebral palsy" EXACT [DOID:10968]
xref: DOID:10968 {source="MONDO:equivalentTo"}
xref: ICD9:343.3 {source="DOID:10968"}
xref: MEDGEN:57593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002547 {source="DOID:10968"}
xref: UMLS:C0154698 {source="MONDO:equivalentTo", source="MEDGEN:57593", source="MONDO:MEDGEN"}
is_a: MONDO:0000396 {source="DOID:10968", source="Wikipedia:Spastic_cerebral_palsy"} ! spastic cerebral palsy

[Term]
id: MONDO:0001170
name: hemiplegia
def: "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body." [MESH:D006429]
subset: otar {source="MONDO:OTAR"}
synonym: "infantile hemiplegia" EXACT [DOID:10969]
synonym: "postnatal infantile hemiplegia" EXACT [DOID:10969]
xref: DOID:10969 {source="MONDO:equivalentTo"}
xref: EFO:0009453 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:343.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10969"}
xref: MEDGEN:9196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006429 {source="MONDO:equivalentTo", source="DOID:10969"}
xref: SCTID:155024003 {source="DOID:10969"}
xref: SCTID:155025002 {source="DOID:10969"}
xref: SCTID:155026001 {source="DOID:10969"}
xref: SCTID:1593000 {source="MONDO:equivalentTo", source="DOID:10969"}
xref: SCTID:192952005 {source="DOID:10969"}
xref: SCTID:192955007 {source="DOID:10969"}
xref: SCTID:267696006 {source="DOID:10969"}
xref: UMLS:C0018991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9196"}
is_a: MONDO:0006496 {source="https://github.com/monarch-initiative/mondo/issues/622"} ! palsy
relationship: excluded_subClassOf MONDO:0002602 {source="DOID:10969", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6583/hemiplegia" xsd:anyURI {source="GARD:0006583"}

[Term]
id: MONDO:0001171
name: acute salpingo-oophoritis
def: "Acute form of salpingo-oophoritis." [MONDO:patterns/acute]
synonym: "acute salpingitis and oophoritis" EXACT [DOID:10971, ICD9CM:614.0]
synonym: "salpingo-oophoritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10971 {source="MONDO:equivalentTo"}
xref: ICD10CM:N70.0 {source="DOID:10971"}
xref: ICD10CM:N70.03 {source="DOID:10971"}
xref: ICD9:614.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10971"}
xref: MEDGEN:510243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155969007 {source="DOID:10971"}
xref: SCTID:198132003 {source="DOID:10971"}
xref: SCTID:198134002 {source="DOID:10971"}
xref: SCTID:198139007 {source="DOID:10971"}
xref: SCTID:266581008 {source="MONDO:equivalentTo", source="DOID:10971"}
xref: UMLS:C0156327 {source="MEDGEN:510243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001172 {source="DOID:10971", source="MONDO:Redundant"} ! salpingo-oophoritis
is_a: MONDO:0001173 {source="MONDO:Redundant"} ! acute salpingitis
intersection_of: MONDO:0001172 ! salpingo-oophoritis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001172
name: salpingo-oophoritis
synonym: "salpingitis/oophoritis" EXACT [DOID:10972]
synonym: "tubo ovarian abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4239651, SCTID:58949002]
synonym: "tubo-ovarian abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4239651, SCTID:58949002]
synonym: "tubo-ovarian abscess (disorder)" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4239651, SCTID:58949002]
synonym: "Tubo-ovarian inflammatory disease" EXACT [DOID:10972]
xref: DOID:10972 {source="MONDO:equivalentTo"}
xref: ICD10CM:N70 {source="DOID:10972"}
xref: ICD10CM:N70.9 {source="DOID:10972"}
xref: ICD10CM:N70.93 {source="DOID:10972"}
xref: ICD9:614.2 {source="DOID:10972", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C171201 {source="MONDO:equivalentTo"}
xref: SCTID:155971007 {source="DOID:10972"}
xref: SCTID:198147007 {source="DOID:10972"}
xref: SCTID:198150005 {source="DOID:10972"}
xref: SCTID:198153007 {source="DOID:10972"}
xref: SCTID:266650009 {source="DOID:10972"}
xref: SCTID:46536000 {source="DOID:10972", source="MONDO:equivalentTo"}
xref: UMLS:C0036133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508106"}
is_a: MONDO:0003619 {source="DOID:10972", source="MONDO:Redundant"} ! salpingitis
is_a: MONDO:0006877 {source="DOID:10972", source="MONDO:Redundant"} ! oophoritis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000992 ! ovary
intersection_of: disease_has_inflammation_site UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0001173
name: acute salpingitis
def: "Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." [NCIT:P378]
synonym: "salpingitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:10973 {source="MONDO:equivalentTo"}
xref: ICD10CM:N70.01 {source="DOID:10973", source="MONDO:equivalentTo"}
xref: MEDGEN:82838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40120 {source="DOID:10973", source="MONDO:equivalentTo"}
xref: SCTID:8912009 {source="DOID:10973", source="MONDO:equivalentTo"}
xref: UMLS:C0269038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82838"}
is_a: MONDO:0003619 {source="DOID:10973", source="MONDO:Redundant", source="NCIT:C40120"} ! salpingitis
intersection_of: MONDO:0003619 ! salpingitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001174
name: conjunctival vascular disorder
def: "A disorder of the vasculature of the cornea." [NCIT:P378]
synonym: "conjunctival vascular abnormality" EXACT [DOID:10989]
synonym: "conjunctival vascular disorder" EXACT [NCIT:C35116]
synonym: "conjunctival vasculature disease" EXACT [MONDO:patterns/location]
synonym: "conjunctival vasculature disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of conjunctival vasculature" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of conjunctival vasculature" EXACT []
synonym: "disorder of conjunctival vasculature" EXACT [MONDO:patterns/location_top]
synonym: "vascular abnormalities of conjunctiva" EXACT [DOID:10989, ICD9CM:372.74]
xref: DOID:10989 {source="MONDO:equivalentTo"}
xref: ICD10CM:H11.41 {source="DOID:10989"}
xref: ICD9:372.74 {source="MONDO:equivalentTo", source="DOID:10989", source="MONDO:i2s"}
xref: MEDGEN:12052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35116 {source="MONDO:equivalentTo", source="DOID:10989"}
xref: SCTID:193900004 {source="DOID:10989"}
xref: SCTID:74100001 {source="MONDO:equivalentTo", source="DOID:10989"}
xref: UMLS:C0042370 {source="MEDGEN:12052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006170 {source="DOID:10989", source="MONDO:Redundant"} ! conjunctival disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0010366 ! conjunctival vasculature

[Term]
id: MONDO:0001175
name: immature cataract
def: "A cataract disease in which the cataract contains some transparent protein" [Wikipedia:Cataract]
synonym: "incipient cataract" EXACT [DOID:10997]
synonym: "incipient senile cataract" EXACT [DOID:10997, ICD9CM:366.12]
synonym: "water clefts" EXACT [DOID:10997]
xref: DOID:10997 {source="MONDO:equivalentTo"}
xref: ICD10CM:H25.09 {source="DOID:10997"}
xref: MEDGEN:755282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193584004 {source="DOID:10997"}
xref: SCTID:446474007 {source="MONDO:equivalentTo"}
xref: SCTID:52421005 {source="DOID:10997"}
xref: UMLS:C2960113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:755282"}
is_a: MONDO:0005129 {source="DOID:10997/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! cataract
relationship: excluded_subClassOf MONDO:0004847 {source="DOID:10997", source="https://orcid.org/0000-0001-5208-3432"} ! senile cataract

[Term]
id: MONDO:0001176
name: lens disorder
def: "A disease involving the lens of camera-type eye." [https://orcid.org/0000-0002-6601-2165]
comment: Includes cataracts, lens subluxation and aphakia
subset: otar {source="MONDO:OTAR"}
synonym: "disease of lens of camera-type eye" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lens of camera-type eye" EXACT []
synonym: "disorder of lens of camera-type eye" EXACT [MONDO:patterns/location_top]
synonym: "lens disorder" EXACT [NCIT:C26812]
synonym: "lens of camera-type eye disease" EXACT [MONDO:patterns/location]
synonym: "lens of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:110 {source="MONDO:equivalentTo"}
xref: EFO:0009674 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H25-H28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:110", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H27.9 {source="DOID:110"}
xref: ICD9:379.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:892382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007905 {source="MONDO:equivalentTo", source="DOID:110"}
xref: NCIT:C26812 {source="MONDO:equivalentTo", source="DOID:110"}
xref: SCTID:10810001 {source="MONDO:equivalentTo", source="DOID:110"}
xref: SCTID:194158009 {source="DOID:110"}
xref: SCTID:194613002 {source="DOID:110"}
xref: UMLS:C0549651 {source="MEDGEN:892382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:110", source="MESH:D007905", source="MONDO:Redundant", source="NCIT:C26812"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000965 ! lens of camera-type eye

[Term]
id: MONDO:0001177
name: anorectal stricture
synonym: "stenosis of rectum and anus" EXACT [DOID:11014, ICD9CM:569.2]
xref: DOID:11014 {source="MONDO:equivalentTo"}
xref: ICD10CM:K62.4 {source="DOID:11014"}
xref: ICD9:569.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11014"}
xref: MEDGEN:57619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537771 {source="MONDO:relatedTo", source="DOID:11014"}
xref: SCTID:155803007 {source="DOID:11014"}
xref: SCTID:197216007 {source="MONDO:equivalentTo", source="DOID:11014"}
xref: SCTID:197218008 {source="DOID:11014"}
xref: SCTID:68627009 {source="DOID:11014"}
xref: UMLS:C0156183 {source="MEDGEN:57619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002519 {source="DOID:11014"} ! anus disorder

[Term]
id: MONDO:0001178
name: pseudopterygium
xref: DOID:11028 {source="MONDO:equivalentTo"}
xref: ICD9:372.52 {source="DOID:11028", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:66139007 {source="DOID:11028", source="MONDO:equivalentTo"}
xref: UMLS:C0155161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509821"}
is_a: MONDO:0000942 {source="DOID:11028"} ! corneal disorder
is_a: MONDO:0000949 {source="DOID:11028"} ! conjunctival degeneration

[Term]
id: MONDO:0001179
name: pinguecula
def: "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." [MESH:D059407]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11029 {source="MONDO:equivalentTo"}
xref: EFO:1001824 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H11.15 {source="DOID:11029"}
xref: ICD9:372.51 {source="DOID:11029", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059407 {source="DOID:11029", source="MONDO:equivalentTo"}
xref: SCTID:155169006 {source="DOID:11029"}
xref: SCTID:267735001 {source="DOID:11029"}
xref: SCTID:87614000 {source="DOID:11029", source="MONDO:equivalentTo"}
xref: UMLS:C0152255 {source="MONDO:equivalentTo", source="MEDGEN:56273", source="MONDO:MEDGEN"}
is_a: MONDO:0000949 {source="DOID:11029"} ! conjunctival degeneration

[Term]
id: MONDO:0001180
name: bullous keratopathy
def: "Keratopathy that is characterized by the presence of epithelial bullae." [NCIT:P378]
xref: DOID:11031 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.1 {source="MONDO:equivalentTo", source="DOID:11031"}
xref: ICD9:371.23 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11031"}
xref: MEDGEN:57600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26970 {source="MONDO:equivalentTo", source="DOID:11031"}
xref: SCTID:193815002 {source="DOID:11031"}
xref: SCTID:57207003 {source="MONDO:equivalentTo", source="DOID:11031"}
xref: UMLS:C0155111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57600"}
is_a: MONDO:0002261 {source="NCIT:C26970"} ! keratopathy
is_a: MONDO:0006712 {source="DOID:11031"} ! corneal edema

[Term]
id: MONDO:0001181
name: secondary corneal edema
xref: DOID:11032 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.23 {source="DOID:11032"}
xref: ICD9:371.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11032"}
xref: MEDGEN:509795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193814003 {source="DOID:11032"}
xref: SCTID:27536004 {source="MONDO:equivalentTo", source="DOID:11032"}
xref: UMLS:C0155110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509795"}
is_a: MONDO:0006712 {source="DOID:11032"} ! corneal edema

[Term]
id: MONDO:0001182
name: idiopathic corneal edema
xref: DOID:11033 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.22 {source="DOID:11033"}
xref: ICD9:371.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11033"}
xref: MEDGEN:509794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1794009 {source="MONDO:equivalentTo", source="DOID:11033"}
xref: SCTID:193813009 {source="DOID:11033"}
xref: UMLS:C0155109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509794"}
is_a: MONDO:0006712 {source="DOID:11033"} ! corneal edema
intersection_of: MONDO:0006712 ! corneal edema
intersection_of: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0001183
name: contact lens corneal edema
xref: DOID:11034 {source="MONDO:equivalentTo"}
xref: ICD9:371.24 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11034"}
xref: MEDGEN:633950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193816001 {source="DOID:11034"}
xref: SCTID:49362009 {source="MONDO:equivalentTo", source="DOID:11034"}
xref: UMLS:C0474442 {source="MEDGEN:633950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006712 {source="DOID:11034"} ! corneal edema

[Term]
id: MONDO:0001184
name: chronic rapidly progressive glomerulonephritis
def: "Chronic form of rapidly progressive glomerulonephritis." [MONDO:patterns/chronic]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" EXACT [DOID:11036, ICD9CM:582.4]
synonym: "rapidly progressive glomerulonephritis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:11036 {source="MONDO:equivalentTo"}
xref: ICD9:582.4 {source="DOID:11036"}
xref: MEDGEN:574584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197614002 {source="MONDO:equivalentTo", source="DOID:11036"}
xref: UMLS:C0341694 {source="MEDGEN:574584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0017236 ! rapidly progressive glomerulonephritis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001185
name: dissociative amnesia
def: "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." [NCIT:P378]
synonym: "psychogenic amnesia" EXACT [DOID:11037]
xref: DOID:11037 {source="MONDO:equivalentTo"}
xref: ICD10CM:F44.0 {source="MONDO:equivalentTo", source="DOID:11037"}
xref: ICD9:300.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11037"}
xref: MEDGEN:66743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000647 {source="DOID:11037"}
xref: NCIT:C94328 {source="MONDO:equivalentTo", source="DOID:11037"}
xref: SCTID:191716000 {source="DOID:11037"}
xref: SCTID:192420000 {source="DOID:11037"}
xref: SCTID:84209002 {source="MONDO:equivalentTo", source="DOID:11037"}
xref: UMLS:C0236795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66743"}
is_a: MONDO:0001160 {source="DOID:11037", source="MONDO:Redundant", source="NCIT:C94328"} ! dissociative disorder
intersection_of: MONDO:0001160 ! dissociative disorder
intersection_of: disease_disrupts GO:0007613 ! memory

[Term]
id: MONDO:0001186
name: depersonalization disorder
def: "A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality." [NCIT:P378]
synonym: "neurotic derealization" EXACT [DOID:11038]
xref: DOID:11038 {source="MONDO:equivalentTo"}
xref: ICD9:300.6 {source="DOID:11038", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:151919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003861 {source="DOID:11038"}
xref: NCIT:C94331 {source="DOID:11038", source="MONDO:equivalentTo"}
xref: SCTID:70764005 {source="DOID:11038", source="MONDO:equivalentTo"}
xref: UMLS:C0683416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:151919"}
is_a: MONDO:0001160 {source="DOID:11038", source="NCIT:C94331"} ! dissociative disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6260/depersonalization-disorder" xsd:anyURI {source="GARD:0006260"}

[Term]
id: MONDO:0001187
name: urinary bladder cancer
def: "A primary or metastatic malignant neoplasm involving the bladder." [NCIT:C9334]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder cancer" RELATED EXCLUDE [DOID:11054]
synonym: "bladder cancer, somatic" EXACT [OMIM:109800, OMIM:genemap2]
synonym: "cancer of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant bladder neoplasm" EXACT [NCIT:C9334]
synonym: "malignant bladder tumor" EXACT [NCIT:C9334]
synonym: "malignant bladder tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of bladder" EXACT [NCIT:C9334]
synonym: "malignant neoplasm of the bladder" EXACT [NCIT:C9334]
synonym: "malignant neoplasm of the urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant neoplasm of urinary bladder" EXACT [MONDO:patterns/cancer, NCIT:C9334]
synonym: "malignant neoplasm, bladder" EXACT [NCIT:C9334]
synonym: "malignant neoplasm, urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor of bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor of the bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor of the urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor of urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant tumor, urinary bladder" EXACT [NCIT:C9334]
synonym: "malignant tumour of bladder" EXACT OMO:0003005 []
synonym: "malignant tumour of the bladder" EXACT OMO:0003005 []
synonym: "malignant tumour of the urinary bladder" EXACT OMO:0003005 []
synonym: "malignant tumour of urinary bladder" EXACT OMO:0003005 []
synonym: "malignant urinary bladder neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9334]
synonym: "malignant urinary bladder tumor" EXACT [NCIT:C9334]
synonym: "malignant urinary bladder tumour" EXACT OMO:0003005 []
synonym: "tumor of the bladder" BROAD [DOID:11054, NCIT:C2901]
synonym: "tumour of the bladder" BROAD OMO:0003005 []
synonym: "urinary bladder cancer" EXACT [MONDO:patterns/location]
synonym: "urinary bladder malignant neoplasm" EXACT [NCIT:C9334]
synonym: "urinary bladder malignant tumor" EXACT [NCIT:C9334]
synonym: "urinary bladder malignant tumour" EXACT OMO:0003005 []
xref: DOID:11054 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67 {source="DOID:11054"}
xref: ICD10CM:C67.9 {source="DOID:11054"}
xref: ICD9:188 {source="DOID:11054"}
xref: ICD9:188.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:188.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11054"}
xref: MEDGEN:14150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001749 {source="DOID:11054"}
xref: NCIT:C2901 {source="DOID:11054"}
xref: NCIT:C9334 {source="MONDO:equivalentTo", source="DOID:11054"}
xref: OMIM:109800 {source="MONDO:equivalentTo", source="DOID:11054"}
xref: Orphanet:157980 {source="MONDO:equivalentObsolete"}
xref: SCTID:126885006 {source="DOID:11054"}
xref: SCTID:154540000 {source="DOID:11054"}
xref: SCTID:188248005 {source="DOID:11054"}
xref: SCTID:269607003 {source="DOID:11054"}
xref: SCTID:363455001 {source="DOID:11054"}
xref: SCTID:399326009 {source="MONDO:equivalentTo", source="DOID:11054"}
xref: SCTID:93689003 {source="DOID:11054"}
xref: UMLS:C0005684 {source="MEDGEN:14150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C9334"} ! urinary bladder neoplasm
is_a: MONDO:0006295 {source="DOID:11054", source="MONDO:Redundant", source="NCIT:C9334"} ! malignant urinary system neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0001188
name: esophagus lymphoma
def: "An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "esophageal lymphoma" EXACT [NCIT:C5687]
synonym: "esophagus lymphoma" EXACT [MONDO:patterns/location, NCIT:C5687]
synonym: "lymphoma of esophagus" EXACT [DOID:1106, NCIT:C5687]
synonym: "lymphoma of oesophagus" EXACT OMO:0003005 []
synonym: "lymphoma of the esophagus" EXACT [NCIT:C5687]
synonym: "lymphoma of the oesophagus" EXACT OMO:0003005 []
synonym: "primary esophageal lymphoma" EXACT [NCIT:C5687]
xref: DOID:1106 {source="MONDO:equivalentTo"}
xref: MEDGEN:234231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5687 {source="MONDO:equivalentTo", source="DOID:1106"}
xref: UMLS:C1333459 {source="MEDGEN:234231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C5687"} ! gastrointestinal lymphoma
is_a: MONDO:0005062 {source="DOID:1106", source="MONDO:Redundant", source="NCIT:C5687/inferred"} ! lymphoma
is_a: MONDO:0007576 {source="DOID:1106", source="MONDO:Redundant", source="NCIT:C5687"} ! esophageal cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0001189
name: obsolete esophageal carcinoma
is_obsolete: true
replaced_by: MONDO:0019086

[Term]
id: MONDO:0001190
name: Brucella suis brucellosis
def: "An disease or disorder caused by infection with Brucella suis." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Brucella suis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Brucella suis disease or disorder" EXACT []
synonym: "Brucella suis infectious disease" EXACT []
xref: DOID:11076 {source="MONDO:equivalentTo"}
xref: MEDGEN:546685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0275594 {source="MEDGEN:546685", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005683 {source="DOID:11076"} ! brucellosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:29461 ! Brucella suis

[Term]
id: MONDO:0001191
name: hirudiniasis
def: "An disease or disorder caused by infection with Hirudinea." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hirudinea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hirudinea disease or disorder" EXACT []
synonym: "Hirudinea infectious disease" EXACT []
synonym: "leeches" EXACT [DOID:11079]
xref: DOID:11079 {source="MONDO:equivalentTo"}
xref: ICD10CM:B88.3 {source="MONDO:relatedTo", source="DOID:11079"}
xref: ICD9:134.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11079"}
xref: MEDGEN:507813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154423006 {source="DOID:11079"}
xref: SCTID:266225001 {source="DOID:11079"}
xref: SCTID:64351000 {source="MONDO:equivalentTo", source="DOID:11079"}
xref: UMLS:C0019575 {source="MEDGEN:507813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:55824 ! Hirudinea
relationship: excluded_subClassOf MONDO:0002875 {source="DOID:11079", source="https://orcid.org/0000-0001-5208-3432"} ! parasitic ectoparasitic infectious disease

[Term]
id: MONDO:0001192
name: esophageal melanoma
def: "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)" [NCIT:C5707]
synonym: "esophageal melanoma" EXACT [NCIT:C5707]
synonym: "esophagus melanoma" EXACT [DOID:1108]
synonym: "esophagus melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "melanoma (disease) of esophagus" EXACT []
synonym: "melanoma (disease) of oesophagus" EXACT OMO:0003005 []
synonym: "melanoma of esophagus" EXACT [DOID:1108, NCIT:C5707]
synonym: "melanoma of oesophagus" EXACT OMO:0003005 []
synonym: "melanoma of the esophagus" EXACT [NCIT:C5707]
synonym: "melanoma of the oesophagus" EXACT OMO:0003005 []
synonym: "mucosal melanoma of the esophagus" RELATED [ONCOTREE:ESMM]
synonym: "mucosal melanoma of the oesophagus" RELATED OMO:0003005 []
synonym: "oesophagus melanoma" EXACT OMO:0003005 []
synonym: "oesophagus melanoma (disease)" EXACT OMO:0003005 []
xref: DOID:1108 {source="MONDO:equivalentTo"}
xref: MEDGEN:272590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5707 {source="MONDO:equivalentTo", source="DOID:1108"}
xref: ONCOTREE:ESMM {source="MONDO:equivalentTo"}
xref: UMLS:C1333460 {source="MEDGEN:272590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="DOID:1108", source="MONDO:Entailed", source="NCIT:C5707/inferred"} ! melanoma
is_a: MONDO:0021355 {source="MONDO:Entailed", source="NCIT:C5707/inferred"} ! neoplasm of esophagus
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus
relationship: disease_has_location UBERON:0001043 {source="NCIT:C5707"} ! esophagus

[Term]
id: MONDO:0001193
name: obsolete chorioretinal scar
xref: DOID:11086 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H31.0 {source="DOID:11086"}
xref: ICD10CM:H31.00 {source="DOID:11086"}
xref: ICD9:363.3 {source="DOID:11086"}
xref: ICD9:363.30 {source="DOID:11086"}
xref: SCTID:193455005 {source="DOID:11086"}
xref: SCTID:193460009 {source="DOID:11086"}
xref: SCTID:53854005 {source="MONDO:obsoleteEquivalent", source="DOID:11086"}
is_obsolete: true
replaced_by: HP:0007777

[Term]
id: MONDO:0001194
name: obsolete rickettsialpox
is_obsolete: true
replaced_by: MONDO:0019360

[Term]
id: MONDO:0001195
name: spotted fever
def: "A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia." [Wikipedia:Spotted_fever]
subset: disease_grouping
subset: gard_rare {source="GARD:19828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:102022"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fever, spotted" RELATED [MESH:D000073605]
synonym: "fevers, spotted" RELATED [MESH:D000073605]
synonym: "spotted fever" EXACT [MESH:D000073605]
synonym: "spotted fever group rickettsial disease" EXACT [DOID:11104]
synonym: "spotted fever Group Rickettsioses" RELATED [MESH:D000073605]
synonym: "spotted fever Group rickettsiosis" RELATED [MESH:D000073605]
synonym: "spotted fever rickettsiae disease" EXACT [Orphanet:102022]
synonym: "spotted fever rickettsiosis" EXACT [MONDO:0015155]
synonym: "spotted fevers" RELATED [MESH:D000073605]
xref: DOID:11104 {source="MONDO:equivalentTo"}
xref: EFO:1002047 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19828 {source="MONDO:GARD"}
xref: ICD10CM:A77 {source="DOID:11104", source="MONDO:equivalentTo"}
xref: ICD10CM:A77.0 {source="Orphanet:102022/btnt", source="Orphanet:102022"}
xref: ICD10CM:A77.1 {source="Orphanet:102022/btnt", source="Orphanet:102022"}
xref: ICD10CM:A77.2 {source="Orphanet:102022/btnt", source="Orphanet:102022"}
xref: ICD10CM:A77.3 {source="Orphanet:102022/btnt", source="Orphanet:102022"}
xref: ICD10CM:A77.8 {source="Orphanet:102022/btnt", source="Orphanet:102022"}
xref: ICD10CM:A77.9 {source="DOID:11104", source="Orphanet:102022/btnt", source="Orphanet:102022"}
xref: icd11.foundation:9953620 {source="MONDO:equivalentTo", source="Orphanet:102022"}
xref: ICD9:082.0 {source="DOID:11104", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:083.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1826170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000073605 {source="UMLS:C0038041"}
xref: Orphanet:102022 {source="MONDO:equivalentTo"}
xref: SCTID:186771002 {source="DOID:11104", source="MONDO:equivalentTo", source="UMLS:C0038041"}
xref: SCTID:186773004 {source="DOID:11104"}
xref: SCTID:187385002 {source="DOID:11104"}
xref: UMLS:C5680374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826170"}
is_a: MONDO:0006956 {source="Orphanet:102022"} ! Rickettsiosis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_infectious_agent NCBITaxon:780 ! Rickettsia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4998/spotted-fever" xsd:anyURI {source="GARD:0004998"}

[Term]
id: MONDO:0001196
name: psychologic dyspareunia
synonym: "dyspareunia, psychogenic" EXACT [DOID:11120, ICD9CM:302.76]
synonym: "non-organic dyspareunia" EXACT [DOID:11120]
xref: DOID:11120 {source="MONDO:equivalentTo"}
xref: ICD10CM:F52.6 {source="DOID:11120"}
xref: ICD9:302.76 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:11120"}
xref: MEDGEN:509600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004414 {source="MONDO:equivalentTo"}
xref: SCTID:154905005 {source="DOID:11120"}
xref: SCTID:192470002 {source="DOID:11120"}
xref: SCTID:268762007 {source="DOID:11120"}
xref: SCTID:41021005 {source="MONDO:equivalentTo", source="DOID:11120"}
xref: UMLS:C0154466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509600"}
is_a: MONDO:0000947 {source="DOID:11120", source="MONDO:Redundant"} ! psychosexual disorder
is_a: MONDO:0700057 {source="https://orcid.org/0000-0002-4142-7153"} ! neurological pain disorder
intersection_of: MONDO:0000947 ! psychosexual disorder
intersection_of: disease_has_major_feature HP:0030016 ! Dyspareunia

[Term]
id: MONDO:0001197
name: qualitative platelet defect
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "qualitative platelet defect" EXACT CLINGEN_LABEL []
synonym: "qualitative platelet deficiency" EXACT [DOID:11125]
xref: DOID:11125 {source="MONDO:equivalentTo"}
xref: ICD10CM:D69.1 {source="DOID:11125"}
xref: ICD9:287.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11125"}
xref: MEDGEN:536418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:191309003 {source="DOID:11125"}
xref: SCTID:191311007 {source="DOID:11125"}
xref: SCTID:267532001 {source="MONDO:equivalentTo", source="DOID:11125"}
xref: UMLS:C0235604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536418"}
is_a: MONDO:0002245 {source="DOID:11125"} ! blood platelet disease

[Term]
id: MONDO:0001198
name: acquired thrombocytopenia
def: "An instance of thrombocytopenia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired thrombocytopenia" EXACT [MONDO:patterns/acquired]
synonym: "secondary thrombocytopenia" EXACT [DOID:11126, ICD9CM:287.4]
synonym: "secondary thrombocytopenia NOS" RELATED EXCLUDE [DOID:11126]
xref: DOID:11126 {source="MONDO:equivalentTo"}
xref: ICD10CM:D69.5 {source="DOID:11126"}
xref: ICD9:287.4 {source="DOID:11126", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154826009 {source="DOID:11126"}
xref: SCTID:191325008 {source="DOID:11126"}
xref: SCTID:267537007 {source="DOID:11126"}
xref: SCTID:74576004 {source="DOID:11126", source="MONDO:equivalentTo"}
xref: UMLS:C0154301 {source="MEDGEN:509570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002049 {source="DOID:11126", source="MONDO:Redundant"} ! thrombocytopenia
intersection_of: MONDO:0002049 ! thrombocytopenia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0001199
name: dislocation of ear ossicle
def: "Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity." [http://www.stanfordchildrens.org/en/service/hearing-center/conditions/ossicular]
synonym: "dislocation of ear ossicles" EXACT []
synonym: "dislocation of ossicles" RELATED []
synonym: "ossicle chain disarticulation" RELATED []
synonym: "ossicle chain discontinuity" RELATED [http://www.stanfordchildrens.org/en/service/hearing-center/conditions/ossicular]
synonym: "ossicle chain disruption" RELATED [https://radiopaedia.org/articles/ossicular-chain-disruption]
synonym: "ossicular dislocation" RELATED []
xref: DOID:11129 {source="MONDO:equivalentTo"}
xref: ICD9:385.23 {source="DOID:11129", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:583120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:87040007 {source="MONDO:equivalentTo"}
xref: UMLS:C0395896 {source="MEDGEN:583120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002409 {source="DOID:11129"} ! auditory system disorder

[Term]
id: MONDO:0001200
name: secondary hypertension
def: "High blood pressure caused by an underlying medical condition." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11130 {source="MONDO:equivalentTo"}
xref: EFO:1002034 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I15 {source="DOID:11130"}
xref: ICD10CM:I15.9 {source="DOID:11130"}
xref: ICD9:405 {source="DOID:11130"}
xref: ICD9:405.9 {source="DOID:11130"}
xref: ICD9:405.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3657 {source="MONDO:otherHierarchy", source="DOID:11130"}
xref: SCTID:155300002 {source="DOID:11130"}
xref: SCTID:194789002 {source="DOID:11130"}
xref: SCTID:194792003 {source="DOID:11130"}
xref: SCTID:31992008 {source="MONDO:equivalentTo", source="DOID:11130"}
xref: UMLS:C0155616 {source="MONDO:equivalentTo", source="MEDGEN:57609", source="MONDO:MEDGEN"}
is_a: MONDO:0005044 {source="DOID:11130", source="EFO:1002034", source="NCIT:C3657"} ! hypertensive disorder

[Term]
id: MONDO:0001201
name: obsolete MONDO:0001201
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010811

[Term]
id: MONDO:0001202
name: prostatic cyst
synonym: "cyst of prostate" EXACT [DOID:11133, ICD9CM:600.3]
xref: DOID:11133 {source="MONDO:equivalentTo"}
xref: ICD10CM:N42.83 {source="MONDO:equivalentTo", source="DOID:11133"}
xref: ICD9:599.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:600.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11133"}
xref: MEDGEN:731233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:409658007 {source="MONDO:equivalentTo", source="DOID:11133"}
xref: UMLS:C1443972 {source="MEDGEN:731233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003105 {source="DOID:11133/inferred"} ! prostate disorder

[Term]
id: MONDO:0001203
name: prolapse of lacrimal gland
synonym: "dislocation of lacrimal gland" EXACT [DOID:11134, ICD9CM:375.16]
xref: DOID:11134 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.16 {source="DOID:11134"}
xref: ICD9:375.16 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11134"}
xref: MEDGEN:509860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:84777002 {source="MONDO:equivalentTo", source="DOID:11134"}
xref: UMLS:C0155231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509860"}
is_a: MONDO:0001854 {source="DOID:11134", source="MONDO:Redundant"} ! lacrimal apparatus disorder
relationship: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0001204
name: esophagus sarcoma
def: "A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophageal sarcoma" EXACT [DOID:1114, NCIT:C5341]
synonym: "esophagus sarcoma" EXACT [MONDO:patterns/location, NCIT:C5341]
synonym: "sarcoma of esophagus" EXACT [MONDO:patterns/sarcoma, NCIT:C5341]
synonym: "sarcoma of oesophagus" EXACT OMO:0003005 []
synonym: "sarcoma of the esophagus" EXACT [NCIT:C5341]
synonym: "sarcoma of the oesophagus" EXACT OMO:0003005 []
synonym: "sarcoma, esophagus" EXACT [NCIT:C5341]
synonym: "sarcoma, oesophagus" EXACT OMO:0003005 []
xref: DOID:1114 {source="MONDO:equivalentTo"}
xref: MEDGEN:234233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5341 {source="MONDO:equivalentTo", source="DOID:1114"}
xref: UMLS:C1333466 {source="MEDGEN:234233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DOID:1114", source="MONDO:Redundant", source="NCIT:C5341/inferred"} ! sarcoma
is_a: MONDO:0007576 {source="DOID:1114", source="MONDO:Redundant", source="NCIT:C5341"} ! esophageal cancer
is_a: MONDO:0018078 {source="NCIT:C5341"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0001205
name: hypersecretion glaucoma
xref: DOID:11148 {source="MONDO:equivalentTo"}
xref: ICD10CM:H40.82 {source="DOID:11148"}
xref: ICD9:365.81 {source="DOID:11148", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:29369005 {source="DOID:11148", source="MONDO:equivalentTo"}
xref: UMLS:C0154968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509744"}
is_a: MONDO:0005041 {source="DOID:11148"} ! glaucoma

[Term]
id: MONDO:0001206
name: aqueous misdirection
xref: DOID:11149 {source="MONDO:equivalentTo"}
xref: ICD10CM:H40.83 {source="DOID:11149"}
xref: ICD9:365.83 {source="DOID:11149"}
xref: MEDGEN:1843475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1135189 {source="MEDGEN:1843475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005041 {source="DOID:11149"} ! glaucoma

[Term]
id: MONDO:0001207
name: neonatal respiratory failure
synonym: "respiratory failure of newborn" EXACT [DOID:11161, ICD9CM:770.84]
xref: DOID:11161 {source="MONDO:equivalentTo"}
xref: ICD10CM:P28.5 {source="DOID:11161", source="MONDO:equivalentTo"}
xref: ICD9:770.84 {source="DOID:11161"}
xref: MEDGEN:105483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:206317005 {source="DOID:11161"}
xref: SCTID:95619009 {source="DOID:11161", source="MONDO:equivalentTo"}
xref: UMLS:C0521648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105483"}
is_a: MONDO:0001208 {source="DOID:11161"} ! acute respiratory failure

[Term]
id: MONDO:0001208
name: acute respiratory failure
def: "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock." [NCIT:C27043]
subset: otar {source="MONDO:OTAR"}
synonym: "acute respiratory failure" EXACT [NCIT:C27043]
synonym: "respiratory failure, acute" EXACT [MONDO:patterns/acute]
xref: ICD9:518.81 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:75540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27043 {source="MONDO:equivalentTo"}
xref: SCTID:65710008 {source="MONDO:equivalentTo"}
xref: UMLS:C0264490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75540"}
is_a: MONDO:0021113 {source="MONDO:Redundant", source="NCIT:C27043"} ! respiratory failure
intersection_of: MONDO:0021113 ! respiratory failure
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001209
name: common wart
def: "A wart caused by human papillomavirus. It can appear anywhere on the skin." [NCIT:C27087]
subset: otar {source="MONDO:OTAR"}
synonym: "common wart" EXACT [NCIT:C27087]
synonym: "verruca vulgaris" EXACT [NCIT:C27087]
synonym: "viral wart" RELATED []
synonym: "viral Warts" RELATED []
synonym: "viral Warts due to papilloma virus" RELATED []
synonym: "wart" RELATED []
xref: DOID:11165 {source="MONDO:equivalentTo"}
xref: EFO:0009662 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B07 {source="DOID:11165"}
xref: ICD10CM:B07.8 {source="DOID:11165"}
xref: ICD9:078.1 {source="DOID:11165"}
xref: ICD9:078.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:777120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014860 {source="MONDO:equivalentTo"}
xref: NCIT:C27087 {source="MONDO:equivalentTo", source="DOID:11165"}
xref: NCIT:C5028 {source="DOID:11165"}
xref: SCTID:123201004 {source="DOID:11165"}
xref: SCTID:154361008 {source="DOID:11165"}
xref: SCTID:186685000 {source="DOID:11165"}
xref: SCTID:186686004 {source="DOID:11165"}
xref: SCTID:266198004 {source="DOID:11165"}
xref: SCTID:30285000 {source="DOID:11165"}
xref: SCTID:367507002 {source="DOID:11165"}
xref: SCTID:57019003 {source="MONDO:equivalentTo", source="DOID:11165"}
xref: SCTID:75003008 {source="DOID:11165"}
xref: UMLS:C3665596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777120"}
is_a: MONDO:0005108 {source="DOID:11165", source="MESH:D014860/inferred", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0024666 {source="NCIT:C27087"} ! benign epithelial skin neoplasm
relationship: disease_has_infectious_agent NCBITaxon:169495 ! This
relationship: disease_has_infectious_agent NCBITaxon:173087 ! Human papillomavirus types

[Term]
id: MONDO:0001210
name: enophthalmos
def: "Abnormal recession of the eyeball within the eye socket." [NCIT:P378]
synonym: "enophthalmos" EXACT [MONDO:ambiguous]
synonym: "enophthalmos (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11175 {source="MONDO:equivalentTo"}
xref: HP:0000490 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H05.4 {source="DOID:11175"}
xref: ICD10CM:H05.40 {source="DOID:11175"}
xref: ICD9:376.5 {source="DOID:11175"}
xref: ICD9:376.50 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11175"}
xref: MEDGEN:473112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015841 {source="MONDO:equivalentTo", source="DOID:11175"}
xref: NCIT:C79552 {source="MONDO:otherHierarchy", source="DOID:11175"}
xref: SCTID:155200004 {source="DOID:11175"}
xref: SCTID:194031000 {source="DOID:11175"}
xref: SCTID:267746003 {source="DOID:11175"}
xref: SCTID:80093006 {source="MONDO:equivalentTo", source="DOID:11175"}
xref: UMLS:C0423224 {source="MEDGEN:473112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004751 {source="DOID:11175", source="MESH:D015841"} ! disease of orbital part of eye adnexa
property_value: IAO:0000589 "enophthalmos (disease)" xsd:string

[Term]
id: MONDO:0001211
name: total internal ophthalmoplegia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:11177 {source="MONDO:equivalentTo"}
xref: ICD9:367.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11177"}
xref: MEDGEN:508924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193630009 {source="DOID:11177"}
xref: SCTID:86266009 {source="MONDO:equivalentTo", source="DOID:11177"}
xref: UMLS:C0152197 {source="MEDGEN:508924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000926 {source="DOID:11177"} ! eye accommodation disease
is_a: MONDO:0001309 ! oculomotor nerve paralysis
is_a: MONDO:0002285 {source="DOID:11177"} ! pupil disorder

[Term]
id: MONDO:0001212
name: non-suppurative otitis media
def: "A otitis media which involves transudation of fluid in the middle ear without pus formation." [DOID:11180, http://www.ncbi.nlm.nih.gov/sites/entrez/1195971]
subset: otar {source="MONDO:OTAR"}
synonym: "nonsuppurative otitis media" EXACT [DOID:11180]
xref: DOID:11180 {source="MONDO:equivalentTo"}
xref: ICD10CM:H65 {source="DOID:11180"}
xref: ICD10CM:H65.9 {source="DOID:11180"}
xref: ICD10CM:H65.90 {source="DOID:11180"}
xref: ICD9:381.4 {source="DOID:11180", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194260003 {source="DOID:11180"}
xref: SCTID:194265008 {source="DOID:11180"}
xref: SCTID:267753007 {source="DOID:11180"}
xref: SCTID:275481002 {source="DOID:11180", source="MONDO:equivalentTo"}
xref: SCTID:45935001 {source="DOID:11180"}
xref: UMLS:C0271446 {source="MEDGEN:543351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005441 {source="DOID:11180"} ! otitis media

[Term]
id: MONDO:0001213
name: serous glue ear
def: "Chronic form of serous otitis media." [MONDO:patterns/chronic]
synonym: "chronic secretory otitis media, serous" RELATED []
synonym: "chronic serous otitis media" EXACT []
synonym: "serous otitis media, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:11181 {source="MONDO:equivalentTo"}
xref: ICD10CM:H65.2 {source="DOID:11181"}
xref: ICD10CM:H65.20 {source="DOID:11181"}
xref: ICD9:381.1 {source="DOID:11181"}
xref: ICD9:381.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:381.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155219009 {source="DOID:11181"}
xref: SCTID:194245001 {source="DOID:11181"}
xref: SCTID:194250007 {source="DOID:11181"}
xref: SCTID:81564005 {source="DOID:11181", source="MONDO:equivalentTo"}
xref: UMLS:C0155421 {source="MEDGEN:509959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001212 {source="DOID:11181", source="MONDO:Redundant"} ! non-suppurative otitis media
is_a: MONDO:0021203 {source="MONDO:Redundant"} ! serous otitis media
is_a: MONDO:0021206 {source="MONDO:Redundant"} ! chronic non-suppurative otitis media
intersection_of: MONDO:0021203 ! serous otitis media
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001214
name: acute conjunctivitis
def: "Acute inflammation of the conjunctiva." [NCIT:C35195]
subset: otar {source="MONDO:OTAR"}
synonym: "acute conjunctivitis (disease)" EXACT []
synonym: "conjunctivitis (disease), acute" EXACT [MONDO:patterns/acute]
xref: DOID:11184 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.02 {source="DOID:11184"}
xref: ICD9:372.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:372.03 {source="DOID:11184"}
xref: MEDGEN:57829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35195 {source="MONDO:equivalentTo"}
xref: SCTID:53726008 {source="MONDO:equivalentTo"}
xref: UMLS:C0155141 {source="MONDO:equivalentTo", source="MEDGEN:57829", source="MONDO:MEDGEN"}
is_a: MONDO:0003799 {source="DOID:11184", source="MONDO:Redundant", source="NCIT:C35195"} ! conjunctivitis
intersection_of: MONDO:0003799 ! conjunctivitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001215
name: allescheriosis
def: "A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses." [DOID:11186, http://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html, http://www.ncbi.nlm.nih.gov/sites/entrez/934264]
synonym: "Petriellidosis" EXACT [DOID:11186]
xref: DOID:11186 {source="MONDO:equivalentTo"}
xref: ICD10CM:B48.2 {source="DOID:11186"}
xref: ICD9:117.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11186"}
xref: MEDGEN:509242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:80936003 {source="MONDO:equivalentTo", source="DOID:11186"}
xref: UMLS:C0153285 {source="MEDGEN:509242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000308 {source="DOID:11186"} ! primary systemic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5597 ! Scedosporium boydii

[Term]
id: MONDO:0001216
name: pulp degeneration
def: "Deterioration of the normal pulp tissue." [NCIT:P378]
xref: DOID:11189 {source="MONDO:equivalentTo"}
xref: ICD10CM:K04.2 {source="MONDO:equivalentTo", source="DOID:11189"}
xref: ICD9:522.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11189"}
xref: MEDGEN:19578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34962 {source="MONDO:otherHierarchy", source="DOID:11189"}
xref: SCTID:196335003 {source="DOID:11189"}
xref: SCTID:22361007 {source="MONDO:equivalentTo", source="DOID:11189"}
xref: UMLS:C0034100 {source="MEDGEN:19578", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003394 {source="DOID:11189"} ! dental pulp disorder

[Term]
id: MONDO:0001217
name: pseudomembranous conjunctivitis
alt_id: MONDO:0022856
def: "Conjunctivitis that is characterized by formation of a pseudomembrane." [NCIT:P378]
synonym: "conjunctivitis with pseudomembrane" EXACT [GARD:0008446]
xref: DOID:11190 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.22 {source="DOID:11190"}
xref: ICD9:372.04 {source="DOID:11190", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35196 {source="DOID:11190", source="MONDO:equivalentTo"}
xref: SCTID:193862009 {source="DOID:11190"}
xref: SCTID:267643002 {source="DOID:11190"}
xref: SCTID:72115001 {source="DOID:11190", source="MONDO:equivalentTo"}
xref: UMLS:C0155144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102325"}
is_a: MONDO:0001214 {source="DOID:11190"} ! acute conjunctivitis
is_a: MONDO:0006668 {source="MONDO:Entailed", source="NCIT:C35196"} ! bacterial conjunctivitis
relationship: disease_has_feature MONDO:0003799 ! conjunctivitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8446/conjunctivitis-with-pseudomembrane" xsd:anyURI {source="GARD:0008446"}

[Term]
id: MONDO:0001218
name: acute laryngopharyngitis
def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." [DOID:11195, http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis]
xref: DOID:11195 {source="MONDO:equivalentTo"}
xref: ICD10CM:J06.0 {source="MONDO:equivalentTo", source="DOID:11195"}
xref: ICD9:465.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11195"}
xref: MEDGEN:510095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:55355000 {source="MONDO:equivalentTo", source="DOID:11195"}
xref: UMLS:C0155817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510095"}
is_a: MONDO:0004867 {source="DOID:11195"} ! upper respiratory tract disorder
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001219
name: serous conjunctivitis except viral
synonym: "serous conjunctivitis, except viral" EXACT [DOID:11197]
xref: DOID:11197 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.23 {source="DOID:11197"}
xref: ICD9:372.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11197"}
xref: MEDGEN:509805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:9824006 {source="MONDO:equivalentTo", source="DOID:11197"}
xref: UMLS:C0155142 {source="MEDGEN:509805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001214 {source="DOID:11197"} ! acute conjunctivitis

[Term]
id: MONDO:0001220
name: hypoparathyroidism
def: "Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body." [https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism]
subset: gard_rare {source="GARD:6733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypoparathyroidism, idiopathic (subtype)" RELATED [GARD:0006733]
synonym: "parathyroid, underactivity of" RELATED [GARD:0006733]
xref: DOID:11199 {source="MONDO:equivalentTo"}
xref: EFO:0009451 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6733 {source="MONDO:GARD"}
xref: ICD10CM:E20 {source="MONDO:equivalentTo", source="DOID:11199"}
xref: ICD10CM:E20.9 {source="DOID:11199"}
xref: ICD9:252.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11199"}
xref: MEDGEN:6985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007011 {source="MONDO:equivalentTo", source="DOID:11199"}
xref: NANDO:1200775 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100124 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200345 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C78350 {source="MONDO:equivalentTo", source="DOID:11199"}
xref: Orphanet:2238 {source="DOID:11199"}
xref: SCTID:154697005 {source="DOID:11199"}
xref: SCTID:190457001 {source="DOID:11199"}
xref: SCTID:267479004 {source="DOID:11199"}
xref: SCTID:36976004 {source="MONDO:equivalentTo", source="DOID:11199"}
xref: UMLS:C0020626 {source="MEDGEN:6985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001223 {source="DOID:11199", source="MESH:D007011", source="NCIT:C78350/inferred"} ! parathyroid gland disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism" xsd:anyURI {source="GARD:0006733"}

[Term]
id: MONDO:0001221
name: esophageal varices
def: "Abnormally dilated veins of the esophagus." [NCIT:C53506]
subset: otar {source="MONDO:OTAR"}
synonym: "bleeding esophageal varices" NARROW [DOID:112]
synonym: "bleeding oesophageal varices" NARROW [DOID:112]
synonym: "esophageal varices" EXACT [DOID:112, NCIT:C53506]
synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [DOID:112]
synonym: "esophageal varices with bleeding" RELATED EXCLUDE [DOID:112]
synonym: "esophageal varices with bleeding in disease EC" EXACT [DOID:112]
synonym: "esophageal varices without bleeding" RELATED EXCLUDE [DOID:112]
synonym: "esophageal varices without mention of bleeding" EXACT [DOID:112]
synonym: "esophageal varix" EXACT [NCIT:C53506]
synonym: "esophagus varicose disease" EXACT [MONDO:patterns/location]
synonym: "oesophagus varicose disease" EXACT OMO:0003005 []
synonym: "varicose disease of esophagus" EXACT [MONDO:design_pattern]
synonym: "varicose disease of oesophagus" EXACT OMO:0003005 []
xref: DOID:112 {source="MONDO:equivalentTo"}
xref: EFO:0009545 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I85 {source="MONDO:equivalentTo"}
xref: ICD10CM:I85.01 {source="DOID:112"}
xref: ICD9:456.0 {source="DOID:112"}
xref: ICD9:456.2 {source="DOID:112"}
xref: ICD9:456.20 {source="DOID:112"}
xref: MEDGEN:5027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004932 {source="MONDO:equivalentTo"}
xref: NCIT:C53506 {source="MONDO:equivalentTo"}
xref: NCIT:C78282 {source="MONDO:otherHierarchy", source="DOID:112"}
xref: SCTID:17709002 {source="DOID:112"}
xref: SCTID:195474004 {source="DOID:112"}
xref: SCTID:195475003 {source="DOID:112"}
xref: SCTID:195479009 {source="DOID:112"}
xref: SCTID:195643006 {source="DOID:112"}
xref: SCTID:236067006 {source="DOID:112"}
xref: SCTID:28670008 {source="MONDO:equivalentTo"}
xref: UMLS:C0014867 {source="MEDGEN:5027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="DOID:112", source="MESH:D004932", source="MONDO:Redundant", source="NCIT:C53506/inferred"} ! esophageal disorder
is_a: MONDO:0004634 {source="DOID:112", source="MONDO:Redundant"} ! vein disorder
intersection_of: MONDO:0008638 ! varicose disease
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0001222
name: congenital T-cell immunodeficiency
def: "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." [NCIT:C27872]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital T-cell immunodeficiency" EXACT [NCIT:C27872]
synonym: "T cell deficiency" RELATED [DOID:11200]
xref: DOID:11200 {source="MONDO:equivalentTo"}
xref: MEDGEN:232099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27872 {source="NCIT:C27872", source="MONDO:equivalentTo", source="DOID:11200"}
xref: UMLS:C1333147 {source="MEDGEN:232099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003780 {source="NCIT:C27872"} ! T-cell immunodeficiency
is_a: MONDO:0003847 {source="NCIT:C27872"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0003778 {source="DOID:11200", source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0001223
name: parathyroid gland disorder
def: "A disease involving the parathyroid gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of parathyroid gland" EXACT [MONDO:patterns/location_top]
synonym: "disease of parathyroid glands" EXACT [DOID:11201]
synonym: "disease or disorder of parathyroid gland" EXACT []
synonym: "disorder of parathyroid gland" EXACT [MONDO:patterns/location_top]
synonym: "parathyroid disease" EXACT [MONDO:0005553]
synonym: "parathyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26844]
synonym: "parathyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "parathyroid gland diseases" EXACT [NCIT:C26844]
synonym: "parathyroid gland disorder" EXACT [NCIT:C26844]
synonym: "parathyroid gland disorders" EXACT [NCIT:C26844]
xref: DOID:11201 {source="MONDO:equivalentTo"}
xref: EFO:0005754 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E21.5 {source="DOID:11201"}
xref: ICD9:252 {source="DOID:11201"}
xref: ICD9:252.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:252.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11201"}
xref: MEDGEN:893009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010279 {source="MONDO:equivalentTo", source="DOID:11201"}
xref: NCIT:C26844 {source="MONDO:equivalentTo", source="DOID:11201"}
xref: SCTID:190462000 {source="DOID:11201"}
xref: SCTID:267478007 {source="DOID:11201"}
xref: SCTID:73132005 {source="MONDO:equivalentTo", source="DOID:11201"}
xref: UMLS:C4025822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:893009"}
is_a: MONDO:0005151 {source="DOID:11201", source="MESH:D010279", source="MONDO:Redundant"} ! endocrine system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland

[Term]
id: MONDO:0001224
name: Angelucci syndrome
def: "Atopic conjunctivitis that is of relatively short duration and that has a rapid onset." [NCIT:P378]
synonym: "acute atopic conjunctivitis" EXACT [DOID:11203]
synonym: "Angelucci syndrome" EXACT [DOID:11203]
synonym: "Angelucci's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:11203 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.1 {source="DOID:11203", source="MONDO:equivalentTo"}
xref: ICD9:372.05 {source="DOID:11203", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34353 {source="DOID:11203", source="MONDO:equivalentTo"}
xref: SCTID:193863004 {source="DOID:11203"}
xref: SCTID:67678004 {source="DOID:11203", source="MONDO:equivalentTo"}
xref: UMLS:C0001309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1316"}
is_a: MONDO:0001214 {source="NCIT:C34353"} ! acute conjunctivitis
is_a: MONDO:0005642 {source="DOID:11203", source="NCIT:C34353"} ! atopic conjunctivitis

[Term]
id: MONDO:0001225
name: opioid abuse
def: "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." [DOID:11206, http://en.wikipedia.org/wiki/Opioid]
xref: DOID:11206 {source="MONDO:equivalentTo"}
xref: ICD10CM:F11.1 {source="DOID:11206"}
xref: ICD9:305.5 {source="DOID:11206"}
xref: MEDGEN:508001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:5602001 {source="DOID:11206", source="MONDO:equivalentTo"}
xref: UMLS:C0029095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508001"}
is_a: MONDO:0002491 {source="DOID:11206"} ! substance abuse

[Term]
id: MONDO:0001226
name: acute contagious conjunctivitis
def: "Acute inflammation of the conjunctiva characterized by pink or red color in the eyes." [NCIT:P378]
synonym: "conjunctivitis infective" EXACT [NCIT:C35704]
synonym: "Contagious opthalmia" EXACT [DOID:11213]
synonym: "pink eye" RELATED EXCLUDE [DOID:11213]
synonym: "pinkeye" EXACT [DOID:11213]
xref: DOID:11213 {source="MONDO:equivalentTo"}
xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:272038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35704 {source="MONDO:equivalentTo", source="DOID:11213"}
xref: SCTID:155162002 {source="DOID:11213"}
xref: SCTID:17482009 {source="DOID:11213"}
xref: SCTID:240066005 {source="DOID:11213"}
xref: SCTID:267734002 {source="DOID:11213"}
xref: SCTID:399047004 {source="DOID:11213"}
xref: SCTID:399219006 {source="MONDO:equivalentTo", source="DOID:11213"}
xref: UMLS:C1313983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272038"}
is_a: MONDO:0001214 {source="DOID:11213", source="NCIT:C35704"} ! acute conjunctivitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001227
name: chronic tympanitis
def: "Chronic form of tympanitis." [MONDO:patterns/chronic]
synonym: "tympanitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:11217 {source="MONDO:equivalentTo"}
xref: ICD10CM:H73.1 {source="DOID:11217"}
xref: ICD10CM:H73.10 {source="DOID:11217"}
xref: ICD9:384.1 {source="DOID:11217", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:583089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:89723004 {source="DOID:11217", source="MONDO:equivalentTo"}
xref: UMLS:C0395849 {source="MONDO:equivalentTo", source="MEDGEN:583089", source="MONDO:MEDGEN"}
is_a: MONDO:0003648 {source="DOID:11217"} ! tympanic membrane disorder
intersection_of: MONDO:0024616 ! tympanitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001228
name: conjunctival folliculosis
synonym: "acute follicular conjunctivitis" EXACT [DOID:11219, ICD9CM:372.02]
xref: DOID:11219 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.01 {source="DOID:11219"}
xref: ICD9:372.02 {source="DOID:11219", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:41308008 {source="DOID:11219", source="MONDO:equivalentTo"}
xref: UMLS:C0155143 {source="MEDGEN:509806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001214 {source="DOID:11219"} ! acute conjunctivitis

[Term]
id: MONDO:0001229
name: small intestine diverticulitis
def: "A diverticulitis that involves the small intestine." [MONDO:patterns/location]
synonym: "diverticulitis of small intestine" EXACT [MONDO:design_pattern]
synonym: "diverticulosis of small intestine with haemorrhage" EXACT OMO:0003005 []
synonym: "diverticulosis of small intestine with hemorrhage" EXACT [DOID:11223]
synonym: "small intestine diverticulitis" EXACT [MONDO:patterns/location]
xref: DOID:11223 {source="MONDO:equivalentTo"}
xref: ICD9:562.01 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:562.02 {source="DOID:11223"}
xref: MEDGEN:540732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:435061000124102 {source="DOID:11223"}
xref: SCTID:56165008 {source="MONDO:equivalentTo"}
xref: UMLS:C0267502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540732"}
is_a: MONDO:0004235 {source="DOID:11223", source="MONDO:Redundant"} ! diverticulitis
intersection_of: MONDO:0004235 ! diverticulitis
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0001230
name: acute orbital inflammation
subset: otar {source="MONDO:OTAR"}
synonym: "acute inflammation of orbit" EXACT [DOID:11230, ICD9CM:376.0]
xref: DOID:11230 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.0 {source="DOID:11230"}
xref: ICD10CM:H05.00 {source="DOID:11230"}
xref: ICD9:376.0 {source="DOID:11230"}
xref: ICD9:376.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11230"}
xref: MEDGEN:509876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194004003 {source="DOID:11230"}
xref: SCTID:194006001 {source="DOID:11230"}
xref: SCTID:20551005 {source="MONDO:equivalentTo", source="DOID:11230"}
xref: UMLS:C0155256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509876"}
is_a: MONDO:0004751 {source="DOID:11230"} ! disease of orbital part of eye adnexa
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001231
name: orbital periostitis
xref: DOID:11231 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.03 {source="DOID:11231"}
xref: ICD9:376.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11231"}
xref: MEDGEN:509877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:65974003 {source="MONDO:equivalentTo", source="DOID:11231"}
xref: UMLS:C0155257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509877"}
is_a: MONDO:0001230 {source="DOID:11231"} ! acute orbital inflammation
is_a: MONDO:0004934 {source="DOID:11231"} ! periostitis

[Term]
id: MONDO:0001232
name: orbital osteomyelitis
synonym: "orbital osteomyelitis" EXACT [DOID:11232]
xref: DOID:11232 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.02 {source="DOID:11232"}
xref: ICD9:376.03 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11232"}
xref: MEDGEN:509878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:65875003 {source="MONDO:equivalentTo", source="DOID:11232"}
xref: UMLS:C0155258 {source="MEDGEN:509878", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001230 {source="DOID:11232"} ! acute orbital inflammation

[Term]
id: MONDO:0001233
name: orbital tenonitis
synonym: "tenonitis" EXACT [DOID:11233]
xref: DOID:11233 {source="MONDO:equivalentTo"}
xref: ICD9:376.04 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11233"}
xref: MEDGEN:509879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:8976003 {source="MONDO:equivalentTo", source="DOID:11233"}
xref: UMLS:C0155259 {source="MEDGEN:509879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001230 {source="DOID:11233"} ! acute orbital inflammation

[Term]
id: MONDO:0001234
name: adhesive otitis media
def: "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." [DOID:11235, Wikipedia:Otitis_media#Adhesive_otitis_media]
synonym: "adhesive middle ear disease" EXACT []
synonym: "adhesive otitis media" EXACT []
synonym: "chronic adhesive otitis media" EXACT [DOID:11235]
synonym: "fibrotic adhesive otitis media" RELATED []
xref: DOID:11235 {source="MONDO:equivalentTo"}
xref: ICD10CM:H74.1 {source="MONDO:equivalentTo", source="DOID:11235"}
xref: ICD9:385.1 {source="DOID:11235"}
xref: ICD9:385.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11235"}
xref: MEDGEN:509984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194330006 {source="DOID:11235"}
xref: SCTID:194331005 {source="DOID:11235"}
xref: SCTID:7699004 {source="MONDO:equivalentTo", source="DOID:11235"}
xref: UMLS:C0155478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509984"}
is_a: MONDO:0002409 {source="DOID:11235"} ! auditory system disorder

[Term]
id: MONDO:0001235
name: appendix cancer
def: "A malignant neoplasm involving the vermiform appendix" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of the appendix" EXACT [DOID:11239, NCIT:C9330]
synonym: "cancer of vermiform appendix" EXACT [MONDO:patterns/cancer]
synonym: "malignant appendix neoplasm" EXACT [NCIT:C9333]
synonym: "malignant appendix tumor" EXACT [NCIT:C9333]
synonym: "malignant appendix tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of appendix" EXACT [NCIT:C9333]
synonym: "malignant neoplasm of appendix vermiformis" EXACT [DOID:11239, ICD9CM:153.5, NCIT:C9333]
synonym: "malignant neoplasm of the appendix" EXACT [NCIT:C9333]
synonym: "malignant neoplasm of vermiform appendix" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of appendix" EXACT [NCIT:C9333]
synonym: "malignant tumor of the appendix" EXACT [DOID:11239, NCIT:C9333]
synonym: "malignant tumour of appendix" EXACT OMO:0003005 []
synonym: "malignant tumour of the appendix" EXACT OMO:0003005 []
synonym: "malignant vermiform appendix neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "vermiform appendix cancer" EXACT [MONDO:patterns/location]
xref: DOID:11239 {source="MONDO:equivalentTo"}
xref: ICD10CM:C18.1 {source="DOID:11239"}
xref: ICD9:153.5 {source="DOID:11239", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:141676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001063 {source="DOID:11239"}
xref: NCIT:C9333 {source="DOID:11239", source="MONDO:equivalentTo"}
xref: SCTID:363411007 {source="DOID:11239", source="MONDO:equivalentTo"}
xref: SCTID:93679002 {source="DOID:11239"}
xref: UMLS:C0496779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141676"}
is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C9333"} ! appendiceal neoplasm
is_a: MONDO:0002516 {source="DOID:11239/inferred", source="MONDO:Redundant", source="NCIT:C9333"} ! digestive system cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0001236
name: appendiceal neoplasm
def: "A benign or malignant neoplasm involving the appendix." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "appendix neoplasm" EXACT [DOID:11240, NCIT:C4434]
synonym: "appendix tumor" EXACT [NCIT:C4434]
synonym: "appendix tumour" EXACT OMO:0003005 []
synonym: "neoplasm of appendix" EXACT [NCIT:C4434]
synonym: "neoplasm of the appendix" EXACT [NCIT:C4434]
synonym: "neoplasm of vermiform appendix" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of appendix" EXACT [NCIT:C4434]
synonym: "tumor of the appendix" EXACT [NCIT:C4434]
synonym: "tumor of vermiform appendix" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of appendix" EXACT OMO:0003005 []
synonym: "tumour of the appendix" EXACT OMO:0003005 []
synonym: "tumour of vermiform appendix" EXACT OMO:0003005 []
synonym: "vermiform appendix neoplasm" EXACT []
synonym: "vermiform appendix neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "vermiform appendix tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "vermiform appendix tumour" EXACT OMO:0003005 []
xref: DOID:11240 {source="MONDO:equivalentTo"}
xref: EFO:0003880 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001063 {source="MONDO:equivalentTo", source="DOID:11240"}
xref: NCIT:C4434 {source="MONDO:equivalentTo", source="DOID:11240"}
xref: SCTID:126846004 {source="MONDO:equivalentTo", source="DOID:11240"}
xref: UMLS:C0003614 {source="MEDGEN:1629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002031 {source="MESH:D001063/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! cecal disorder
is_a: MONDO:0005694 {source="MESH:D001063", source="MONDO:Redundant"} ! cecal neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0001237
name: appendix lymphoma
def: "A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare." [NCIT:C5513]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "appendiceal lymphoma" EXACT [DOID:11241, NCIT:C5513]
synonym: "appendix lymphoma" EXACT [NCIT:C5513]
synonym: "lymphoma of appendix" EXACT [NCIT:C5513]
synonym: "lymphoma of the appendix" EXACT [NCIT:C5513]
synonym: "lymphoma of vermiform appendix" EXACT [MONDO:design_pattern]
synonym: "primary appendix lymphoma" EXACT [NCIT:C5513]
synonym: "vermiform appendix lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:11241 {source="MONDO:equivalentTo"}
xref: MEDGEN:231078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5513 {source="MONDO:equivalentTo", source="DOID:11241", source="MONDO:exact-label-match"}
xref: UMLS:C1332328 {source="MONDO:equivalentTo", source="MEDGEN:231078", source="MONDO:MEDGEN"}
is_a: MONDO:0001235 {source="DOID:11241", source="MONDO:Redundant", source="NCIT:C5513"} ! appendix cancer
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C5513"} ! gastrointestinal lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0001238
name: polycythemia neonatorum
def: "A condition in which the red blood cell level is greater than established reference ranges in a newborn." [NCIT:C27069]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neonatal polycythemia" EXACT [NCIT:C27069]
synonym: "plethora of newborn" RELATED [DOID:11242]
synonym: "polycythemia neonatorum" EXACT [NCIT:C27069]
synonym: "polycythemia of the newborn" EXACT [NCIT:C27069]
xref: DOID:11242 {source="MONDO:equivalentTo"}
xref: ICD10CM:P61.1 {source="MONDO:equivalentTo", source="DOID:11242"}
xref: ICD9:776.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11242"}
xref: MEDGEN:78794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27069 {source="MONDO:equivalentTo", source="DOID:11242"}
xref: SCTID:206518001 {source="DOID:11242"}
xref: SCTID:32984002 {source="MONDO:equivalentTo", source="DOID:11242"}
xref: SCTID:9170001 {source="DOID:11242"}
xref: UMLS:C0272153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78794"}
is_a: MONDO:0005571 {source="DOID:11242", source="NCIT:C27069/inferred"} ! polycythemia

[Term]
id: MONDO:0001239
name: anemia of prematurity
def: "A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AOP" EXACT ABBREVIATION [NCIT:C97167]
xref: DOID:11243 {source="MONDO:equivalentTo"}
xref: ICD10CM:P61.2 {source="MONDO:equivalentTo", source="DOID:11243"}
xref: ICD9:776.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11243"}
xref: MEDGEN:472907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97167 {source="MONDO:equivalentTo", source="DOID:11243"}
xref: SCTID:47100003 {source="MONDO:equivalentTo", source="DOID:11243"}
xref: UMLS:C0158996 {source="MONDO:equivalentTo", source="MEDGEN:472907", source="MONDO:MEDGEN"}
is_a: MONDO:0001240 {source="DOID:11243"} ! neonatal anemia
is_a: MONDO:0002280 {source="DOID:11243/inferred", source="MONDO:Redundant", source="NCIT:C97167"} ! anemia

[Term]
id: MONDO:0001240
name: neonatal anemia
def: "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation." [MESH:D000751]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaemia neonatal" EXACT OMO:0003005 []
synonym: "anemia neonatal" EXACT [DOID:11244, MTH:NOCODE]
xref: DOID:11244 {source="MONDO:equivalentTo"}
xref: MEDGEN:1530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000751 {source="MONDO:equivalentTo", source="DOID:11244"}
xref: SCTID:111468003 {source="DOID:11244"}
xref: SCTID:234350007 {source="MONDO:equivalentTo", source="DOID:11244"}
xref: SCTID:276577009 {source="DOID:11244"}
xref: SCTID:33130007 {source="DOID:11244"}
xref: UMLS:C0002891 {source="MONDO:equivalentTo", source="MEDGEN:1530", source="MONDO:MEDGEN"}
is_a: MONDO:0002280 {source="DOID:11244", source="MESH:D000751"} ! anemia

[Term]
id: MONDO:0001241
name: transient neonatal neutropenia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:11245 {source="MONDO:equivalentTo"}
xref: ICD10CM:P61.5 {source="MONDO:equivalentTo", source="DOID:11245"}
xref: ICD9:776.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11245"}
xref: MEDGEN:510688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:206520003 {source="DOID:11245"}
xref: SCTID:55444004 {source="MONDO:equivalentTo", source="DOID:11245"}
xref: UMLS:C0158997 {source="MEDGEN:510688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001475 {source="DOID:11245"} ! neutropenia
relationship: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0001242
name: disseminated intravascular coagulation in newborn
def: "A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn." [NCIT:C111856]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DIC in newborn" EXACT [DOID:11246]
synonym: "disseminated intravascular coagulation in newborn" EXACT [DOID:11246, ICD9CM:776.2]
synonym: "neonatal disseminated intravascular coagulation" EXACT [NCIT:C111856]
xref: DOID:11246 {source="MONDO:equivalentTo"}
xref: ICD10CM:P60 {source="DOID:11246"}
xref: ICD9:776.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11246"}
xref: MEDGEN:510687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111856 {source="MONDO:equivalentTo", source="DOID:11246"}
xref: SCTID:34417008 {source="MONDO:equivalentTo", source="DOID:11246"}
xref: UMLS:C0158992 {source="MONDO:equivalentTo", source="MEDGEN:510687", source="MONDO:MEDGEN"}
is_a: MONDO:0001243 {source="DOID:11246", source="NCIT:C111856"} ! disseminated intravascular coagulation

[Term]
id: MONDO:0001243
name: disseminated intravascular coagulation
def: "A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage." [NCIT:C2992]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "coagulation (DIC), disseminated intravascular" EXACT [NCIT:C2992]
synonym: "consumptive coagulopathy" EXACT [NCIT:C2992]
synonym: "defibrination syndrome" EXACT [DOID:11247, ICD9CM:286.6]
synonym: "DIC" EXACT ABBREVIATION [DOID:11247, NCIT:C2992]
synonym: "DIC, disseminated intravascular coagulation" EXACT [NCIT:C2992]
synonym: "diffuse or disseminated intravascular coagulation" EXACT [DOID:11247]
synonym: "disseminated intravascular coagulation" EXACT [NCIT:C2992]
synonym: "disseminated intravascular coagulation (DIC)" EXACT [NCIT:C2992]
synonym: "intravascular coagulation (DIC), disseminated" EXACT [NCIT:C2992]
xref: DOID:11247 {source="MONDO:equivalentTo"}
xref: ICD10CM:D65 {source="DOID:11247"}
xref: ICD9:286.6 {source="DOID:11247", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:41620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004211 {source="DOID:11247", source="MONDO:equivalentTo"}
xref: NANDO:2200639 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2992 {source="DOID:11247", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:267563002 {source="DOID:11247"}
xref: SCTID:67406007 {source="DOID:11247", source="MONDO:equivalentTo"}
xref: UMLS:C0012739 {source="MEDGEN:41620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001531 {source="DOID:11247/inferred", source="MESH:D004211", source="MONDO:Redundant", source="NCIT:C2992"} ! blood coagulation disease
is_a: MONDO:0002305 {source="DOID:11247", source="MESH:D004211"} ! thrombophilia
relationship: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0001244
name: vitamin K deficiency hemorrhagic disease
def: "Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding." [NCIT:C99108]
synonym: "deficiency of vitamin K" EXACT [DOID:11249, ICD9CM:269.0]
synonym: "vitamin K deficiency" EXACT [DOID:11249, NCIT:C99108]
synonym: "vitamin K deficiency coagulation disorder" EXACT [NCIT:C99108]
xref: DOID:11249 {source="MONDO:equivalentTo"}
xref: ICD10CM:E56.1 {source="DOID:11249", source="MONDO:equivalentTo"}
xref: ICD9:269.0 {source="DOID:11249", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014813 {source="DOID:11249", source="MONDO:equivalentTo"}
xref: NCIT:C99108 {source="DOID:11249", source="MONDO:equivalentTo"}
xref: SCTID:124892003 {source="DOID:11249"}
xref: SCTID:52675005 {source="DOID:11249", source="MONDO:equivalentTo"}
xref: UMLS:C0272348 {source="MEDGEN:543992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006873 {source="DOID:11249", source="MESH:D014813/inferred", source="MONDO:Redundant"} ! nutritional deficiency disease
is_a: MONDO:0024298 {source="MESH:D014813", source="NCIT:C99108"} ! vitamin deficiency disorder

[Term]
id: MONDO:0001245
name: microcytic anemia
def: "Anemia in which the red blood cell volume is decreased." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11252 {source="MONDO:equivalentTo"}
xref: HP:0001935 {source="MONDO:otherHierarchy"}
xref: MEDGEN:1673948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562385 {source="DOID:11252"}
xref: NCIT:C35141 {source="MONDO:equivalentTo", source="DOID:11252"}
xref: SCTID:154787005 {source="DOID:11252"}
xref: SCTID:234349007 {source="MONDO:equivalentTo", source="DOID:11252"}
xref: SCTID:267553005 {source="DOID:11252"}
xref: UMLS:C5194182 {source="MEDGEN:1673948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002280 {source="DOID:11252", source="NCIT:C35141"} ! anemia
intersection_of: MONDO:0002280 ! anemia
intersection_of: disease_has_feature HP:0001935 ! Microcytic anemia

[Term]
id: MONDO:0001246
name: typhus
def: "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." [Wikipedia:Typhus]
subset: disease_grouping
subset: gard_rare {source="GARD:19829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:102023"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classical typhus" RELATED [DOID:11256]
synonym: "classical typhus (fever)" RELATED [DOID:11256]
synonym: "endemic flea-borne typhus" NARROW [DOID:11256]
synonym: "endemic typhus fever" NARROW [DOID:11256]
synonym: "epidemic (louse-borne) typhus" RELATED [DOID:11256]
synonym: "epidemic louse-borne typhus" NARROW [DOID:11256]
synonym: "epidemic louse-borne typhus fever due to Rickettsia prowazekii" RELATED [DOID:11256]
synonym: "European typhus" RELATED [DOID:11256]
synonym: "exanthematic typhus fever" NARROW [DOID:11256]
synonym: "exanthematous typhus" RELATED [DOID:11256]
synonym: "famine fever" RELATED [DOID:11256]
synonym: "flea typhus" NARROW [DOID:11256]
synonym: "flea-borne rickettsiosis" RELATED [DOID:11256]
synonym: "flea-borne typhus" RELATED [DOID:11256]
synonym: "gaol fever" RELATED OMO:0003005 []
synonym: "hospital fever" RELATED [DOID:11256]
synonym: "jail fever" RELATED [DOID:11256]
synonym: "louse-borne [epidemic] typhus" NARROW [DOID:11256, ICD9CM:080]
synonym: "louse-borne rickettsiosis" RELATED [DOID:11256]
synonym: "louse-borne typhus" RELATED [DOID:11256]
synonym: "Mexican typhus" RELATED [DOID:11256]
synonym: "Moscow typhus" RELATED [DOID:11256]
synonym: "murine [endemic] typhus" NARROW [DOID:11256, ICD9CM:081.0]
synonym: "murine typhus" RELATED [DOID:11256]
synonym: "petechial fever" RELATED [DOID:11256]
synonym: "prison fever" RELATED [DOID:11256]
synonym: "rat flea typhus" RELATED [DOID:11256]
synonym: "ship fever" RELATED [DOID:11256]
synonym: "shop typhus" RELATED [DOID:11256]
synonym: "typhus exanthematique" RELATED [DOID:11256]
synonym: "typhus fever" EXACT [DOID:11256]
synonym: "typhus-group rickettsiae disease" EXACT [Orphanet:102023]
synonym: "typhus-group rickettsiosis" EXACT [MONDO:0015156]
synonym: "Urban typhus" RELATED [DOID:11256]
xref: DOID:11256 {source="MONDO:equivalentTo"}
xref: EFO:0009117 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19829 {source="MONDO:GARD"}
xref: ICD10CM:A75 {source="DOID:11256"}
xref: ICD10CM:A75.0 {source="Orphanet:102023", source="Orphanet:102023/btnt", source="DOID:11256"}
xref: ICD10CM:A75.1 {source="Orphanet:102023", source="Orphanet:102023/btnt"}
xref: ICD10CM:A75.2 {source="Orphanet:102023", source="Orphanet:102023/btnt", source="DOID:11256"}
xref: ICD10CM:A75.3 {source="Orphanet:102023", source="Orphanet:102023/btnt"}
xref: ICD10CM:A75.9 {source="Orphanet:102023", source="Orphanet:102023/btnt", source="DOID:11256"}
xref: icd11.foundation:292650041 {source="Orphanet:102023", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:080 {source="DOID:11256"}
xref: ICD9:081.0 {source="DOID:11256"}
xref: ICD9:081.9 {source="DOID:11256"}
xref: MEDGEN:11976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014437 {source="DOID:11256"}
xref: MESH:D014438 {source="DOID:11256"}
xref: NCIT:C84688 {source="DOID:11256"}
xref: NCIT:C84689 {source="DOID:11256"}
xref: Orphanet:102023 {source="MONDO:equivalentTo"}
xref: SCTID:154375001 {source="DOID:11256"}
xref: SCTID:187383009 {source="DOID:11256"}
xref: SCTID:240613006 {source="MONDO:equivalentTo"}
xref: SCTID:25668000 {source="DOID:11256"}
xref: SCTID:266205000 {source="DOID:11256"}
xref: SCTID:39111003 {source="DOID:11256"}
xref: SCTID:414263007 {source="DOID:11256"}
xref: SCTID:83838002 {source="DOID:11256"}
xref: UMLS:C0041471 {source="MEDGEN:11976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006956 {source="Orphanet:102023"} ! Rickettsiosis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_infectious_agent NCBITaxon:780 {source="MONDO:Wikidata"} ! Rickettsia
relationship: excluded_subClassOf MONDO:0000314 {source="DOID:11256", source="https://orcid.org/0000-0001-5208-3432"} ! primary bacterial infectious disease

[Term]
id: MONDO:0001247
name: social phobia
def: "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "social anxiety disorder" EXACT [NCIT:C34927]
xref: DOID:11257 {source="MONDO:equivalentTo"}
xref: EFO:1001917 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F40.1 {source="DOID:11257"}
xref: ICD10CM:F40.10 {source="DOID:11257"}
xref: ICD9:300.23 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11257"}
xref: MEDGEN:19254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000072861 {source="MONDO:equivalentTo"}
xref: NCIT:C34927 {source="MONDO:equivalentTo", source="DOID:11257"}
xref: SCTID:191720001 {source="DOID:11257"}
xref: SCTID:192395002 {source="DOID:11257"}
xref: SCTID:25501002 {source="MONDO:equivalentTo", source="DOID:11257"}
xref: UMLS:C0031572 {source="MEDGEN:19254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003699 {source="DOID:11257", source="EFO:1001917", source="NCIT:C34927"} ! phobic disorder
relationship: disease_disrupts GO:0035176 ! social behavior

[Term]
id: MONDO:0001248
name: obsolete rabies
is_obsolete: true
replaced_by: MONDO:0019173

[Term]
id: MONDO:0001249
name: trachoma
def: "A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis." [MESH:D014141]
synonym: "active stage trachoma" EXACT [DOID:11265]
synonym: "trachoma dubium" EXACT [DOID:11265]
xref: DOID:11265 {source="MONDO:equivalentTo"}
xref: ICD10CM:A71 {source="DOID:11265"}
xref: ICD10CM:A71.0 {source="DOID:11265"}
xref: ICD10CM:A71.1 {source="DOID:11265"}
xref: ICD10CM:A71.9 {source="DOID:11265"}
xref: ICD9:076 {source="DOID:11265"}
xref: ICD9:076.0 {source="DOID:11265"}
xref: ICD9:076.1 {source="DOID:11265"}
xref: ICD9:076.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11265"}
xref: MEDGEN:52801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014141 {source="MONDO:equivalentTo", source="DOID:11265"}
xref: SCTID:154367007 {source="DOID:11265"}
xref: SCTID:186671005 {source="DOID:11265"}
xref: SCTID:186672003 {source="DOID:11265"}
xref: SCTID:187379009 {source="DOID:11265"}
xref: SCTID:2576002 {source="MONDO:equivalentTo", source="DOID:11265"}
xref: SCTID:266200005 {source="DOID:11265"}
xref: SCTID:29976007 {source="DOID:11265"}
xref: SCTID:52812002 {source="DOID:11265"}
xref: UMLS:C0040592 {source="MEDGEN:52801", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000315 {source="DOID:11265", source="MONDO:Redundant", source="MONDO:indirect"} ! commensal bacterial infectious disease
is_a: MONDO:0005701 {source="MONDO:Redundant"} ! chlamydia trachomatis infectious disease
relationship: disease_has_infectious_agent NCBITaxon:813 ! Chlamydia trachomatis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10374/trachoma" xsd:anyURI {source="GARD:0010374"}

[Term]
id: MONDO:0001250
name: keratomalacia
def: "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia." [Wikipedia:Keratomalacia]
xref: DOID:11267 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.44 {source="DOID:11267"}
xref: ICD9:371.45 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11267"}
xref: MEDGEN:57777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536156 {source="MONDO:equivalentTo", source="DOID:11267"}
xref: SCTID:193827004 {source="DOID:11267"}
xref: SCTID:85149007 {source="MONDO:equivalentTo", source="DOID:11267"}
xref: UMLS:C0152455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57777"}
is_a: MONDO:0005328 {source="DOID:11267/inferred", source="Wikipedia:Keratomalacia"} ! eye disorder
relationship: disease_arises_from_feature HP:0004905 {source="MESH:C536156-modified"} ! Reduced circulating vitamin A concentration
relationship: disease_has_basis_in_disruption_of GO:0010669 {source="Wikipedia:Keratomalacia"} ! epithelial structure maintenance
relationship: disease_has_feature HP:0007957 {source="Wikipedia:Keratomalacia"} ! Corneal opacity
relationship: disease_has_feature MONDO:0001515 {source="Wikipedia:Keratomalacia"} ! corneal degeneration

[Term]
id: MONDO:0001251
name: chronic apical periodontitis
def: "Chronic form of periapical periodontitis." [MONDO:patterns/chronic]
synonym: "chronic periapical periodontitis" EXACT [MONDO:design_pattern]
synonym: "periapical periodontitis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: DOID:11269 {source="MONDO:equivalentTo"}
xref: ICD10CM:K04.5 {source="DOID:11269", source="MONDO:equivalentTo"}
xref: ICD9:522.6 {source="DOID:11269", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:581135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196343008 {source="DOID:11269"}
xref: SCTID:196345001 {source="DOID:11269"}
xref: SCTID:718052004 {source="MONDO:equivalentTo"}
xref: SCTID:87782002 {source="DOID:11269"}
xref: UMLS:C0392492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581135"}
is_a: MONDO:0004508 {source="DOID:11269", source="MONDO:Redundant"} ! periapical periodontitis
intersection_of: MONDO:0004508 ! periapical periodontitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001252
name: Plummer disease
def: "Nodular enlargement of the thyroid gland associated with hyperthyroidism." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Plummer disease" EXACT [DOID:11277]
synonym: "Plummer's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Toxic goiter" EXACT [NCIT:C35171]
synonym: "Toxic goitre" EXACT OMO:0003005 []
synonym: "toxic nodular goiter" EXACT [DOID:11277, NCIT:C35171]
synonym: "toxic nodular goitre" EXACT OMO:0003005 []
xref: DOID:11277 {source="MONDO:equivalentTo"}
xref: EFO:0009191 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E05.2 {source="DOID:11277"}
xref: ICD9:242.3 {source="DOID:11277"}
xref: ICD9:242.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:137963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35171 {source="MONDO:equivalentTo", source="DOID:11277"}
xref: SCTID:190250001 {source="DOID:11277"}
xref: SCTID:190254005 {source="DOID:11277"}
xref: SCTID:57777000 {source="MONDO:equivalentTo", source="DOID:11277"}
xref: UMLS:C0342127 {source="MONDO:equivalentTo", source="MEDGEN:137963", source="MONDO:MEDGEN"}
is_a: MONDO:0004425 {source="DOID:11277", source="EFO:0009191", source="NCIT:C35171"} ! hyperthyroidism

[Term]
id: MONDO:0001253
name: obsolete solar retinopathy
synonym: "solar retinitis" EXACT [DOID:11282]
xref: DOID:11282 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H31.02 {source="DOID:11282"}
xref: ICD9:363.31 {source="DOID:11282"}
xref: SCTID:1135000 {source="MONDO:obsoleteEquivalent", source="DOID:11282"}
is_obsolete: true

[Term]
id: MONDO:0001254
name: obsolete peripheral scars of retina
xref: DOID:11283 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:363.34 {source="DOID:11283"}
is_obsolete: true

[Term]
id: MONDO:0001255
name: ventilation pneumonitis
def: "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." [DOID:11289, http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Air-conditioner and humidifier lung" EXACT [DOID:11289]
synonym: "humidifier lung" EXACT [DOID:11289]
synonym: "humidifiers lung" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "ventilation systems lung" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: DOID:11289 {source="MONDO:equivalentTo"}
xref: ICD10CM:J67.7 {source="DOID:11289"}
xref: ICD9:495.7 {source="DOID:11289"}
xref: MEDGEN:510127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:195990006 {source="MONDO:equivalentTo", source="DOID:11289"}
xref: SCTID:48347002 {source="DOID:11289"}
xref: UMLS:C0155891 {source="MEDGEN:510127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017853 {source="DOID:11289"} ! hypersensitivity pneumonitis

[Term]
id: MONDO:0001256
name: arteriovenous hemangioma/malformation
def: "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures." [NCIT:C2882]
comment: Editor note: NCIT conflates hemangioma and malformation
subset: otar {source="MONDO:OTAR"}
synonym: "arteriovenous angioma" EXACT [NCIT:C2882]
synonym: "arteriovenous hemangioma" EXACT [NCIT:C2882]
synonym: "arteriovenous hemangioma/malformation" EXACT [NCIT:C2882]
synonym: "arteriovenous malformation" RELATED [DOID:11294]
synonym: "cirsoid aneurysm" RELATED [DOID:11294]
synonym: "racemose aneurysm" EXACT [DOID:11294]
synonym: "racemose aneurysm (morphologic abnormality)" EXACT [DOID:11294]
synonym: "racemose angioma" EXACT [DOID:11294, NCIT:C4297]
synonym: "racemose hemangioma" EXACT [NCIT:C2882]
synonym: "racemose hemangioma (morphologic abnormality)" EXACT [DOID:11294]
xref: CSP:0571-2717 {source="DOID:11294"}
xref: DOID:11294 {source="MONDO:equivalentTo"}
xref: HP:0100026 {source="MONDO:otherHierarchy", source="DOID:11294"}
xref: ICD10CM:I77.0 {source="DOID:11294"}
xref: ICDO:9123/0 {source="NCIT:C2882"}
xref: MEDGEN:137780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001165 {source="MONDO:equivalentTo"}
xref: NCIT:C2882 {source="MONDO:equivalentTo", source="DOID:11294"}
xref: SCTID:11071001 {source="DOID:11294"}
xref: SCTID:14156004 {source="DOID:11294"}
xref: SCTID:204480002 {source="DOID:11294"}
xref: SCTID:233982006 {source="MONDO:equivalentTo", source="DOID:11294"}
xref: SCTID:403966009 {source="DOID:11294"}
xref: UMLS:C0334533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137780"}
is_a: MONDO:0006500 {source="DOID:11294"} ! hemangioma

[Term]
id: MONDO:0001257
name: retinal microaneurysm
comment: Will be obsoleted in favor of HP class, see https://github.com/obophenotype/human-phenotype-ontology/issues/4265
xref: DOID:11295 {source="MONDO:equivalentTo"}
xref: ICD9:362.14 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11295"}
xref: MEDGEN:472899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193363005 {source="DOID:11295"}
xref: SCTID:34037000 {source="MONDO:equivalentTo", source="DOID:11295"}
xref: UMLS:C0154834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:472899"}
is_a: MONDO:0002311 {source="DOID:11295"} ! retinal vascular disorder
relationship: disease_has_location UBERON:0004864 ! vasculature of retina

[Term]
id: MONDO:0001258
name: vertebral artery occlusion
synonym: "occlusion and stenosis of vertebral artery" EXACT [DOID:11299]
synonym: "vertebral artery occlusion" EXACT [DOID:11299]
synonym: "vertebrobasial artery occlusion" RELATED []
xref: DOID:11299 {source="MONDO:equivalentTo"}
xref: ICD10CM:I65.0 {source="MONDO:equivalentTo", source="DOID:11299"}
xref: ICD9:433.2 {source="DOID:11299"}
xref: ICD9:433.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:433.21 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:195182007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265104 {source="MEDGEN:539080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003718 {source="DOID:11299"} ! occlusion precerebral artery
intersection_of: MONDO:0020672 ! vascular occlusion disorder
intersection_of: disease_has_location UBERON:0001535 ! vertebral artery
relationship: disease_has_location UBERON:0001535 ! vertebral artery
relationship: excluded_subClassOf MONDO:0000812 {source="DOID:11299", source="https://orcid.org/0000-0001-5208-3432"} ! vertebral column disorder

[Term]
id: MONDO:0001259
name: pituitary gland infarction
def: "Ischemic necrosis of the pituitary gland." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "pituitary gland infarction" EXACT [NCIT:C27117]
synonym: "pituitary infarct" EXACT [DOID:1130]
synonym: "pituitary infarction" EXACT [DOID:1130, NCIT:C27117]
xref: DOID:1130 {source="MONDO:equivalentTo"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27117 {source="DOID:1130", source="MONDO:equivalentTo"}
xref: SCTID:95830009 {source="DOID:1130", source="MONDO:equivalentTo"}
xref: UMLS:C0342405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137969"}
is_a: MONDO:0002721 {source="DOID:1130"} ! necrosis of pituitary
relationship: disease_has_location UBERON:0000007 ! pituitary gland

[Term]
id: MONDO:0001260
name: cercarial dermatitis
def: "An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin." [NCIT:P378]
subset: gard_rare {source="GARD:9747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cutaneous schistosomiasis" EXACT [DOID:11302, ICD9CM:120.3]
synonym: "duck Itch" EXACT [NCIT:C128349]
synonym: "lake Itch" EXACT [NCIT:C128349]
synonym: "Sea bather's eruption" EXACT [DOID:11302]
synonym: "swimmer's itch" RELATED [GARD:0009747]
xref: DOID:11302 {source="MONDO:equivalentTo"}
xref: GARD:9747 {source="MONDO:GARD"}
xref: ICD10CM:B65.3 {source="DOID:11302", source="MONDO:equivalentTo"}
xref: ICD9:120.3 {source="DOID:11302"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:108186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128349 {source="MONDO:equivalentTo"}
xref: NCIT:C34457 {source="DOID:11302"}
xref: SCTID:187115002 {source="DOID:11302"}
xref: SCTID:238534006 {source="DOID:11302", source="MONDO:equivalentTo"}
xref: SCTID:86711009 {source="DOID:11302"}
xref: UMLS:C0546996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108186"}
is_a: MONDO:0002406 {source="MONDO:Redundant", source="NCIT:C128349"} ! dermatitis
is_a: MONDO:0015254 {source="DOID:11302"} ! schistosomiasis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis" xsd:anyURI {source="GARD:0009747"}

[Term]
id: MONDO:0001261
name: Mobitz type II atrioventricular block
def: "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)" [NCIT:C62018]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AV block second degree Mobitz type II" EXACT [NCIT:C62018]
synonym: "AV block second degree Möbitz type II" EXACT [NCIT:C62018]
synonym: "Mobitz (type) II atrioventricular block" EXACT [DOID:11312, ICD9CM:426.12]
synonym: "Mobitz II" EXACT [NCIT:C62018]
synonym: "Mobitz II atrioventricular block" EXACT [DOID:11312]
synonym: "Mobitz type II second degree AV block" EXACT [NCIT:C62018]
synonym: "Möbitz II" EXACT [NCIT:C62018]
synonym: "Möbitz type II second degree AV block" EXACT [NCIT:C62018]
synonym: "second degree atrioventricular block Mobitz type II" EXACT [NCIT:C62018]
synonym: "second degree atrioventricular block Möbitz type II" EXACT [NCIT:C62018]
synonym: "type 2 2nd degree AV block" EXACT [NCIT:C62018]
synonym: "type 2 second degree AV block" EXACT [NCIT:C62018]
synonym: "type II second degree atrioventricular block" EXACT [NCIT:C62018]
synonym: "type II second degree AV block" EXACT [NCIT:C62018]
xref: DOID:11312 {source="MONDO:equivalentTo"}
xref: ICD9:426.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11312"}
xref: MEDGEN:102340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100044 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200213 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C62018 {source="MONDO:equivalentTo", source="DOID:11312"}
xref: SCTID:28189009 {source="MONDO:equivalentTo", source="DOID:11312"}
xref: UMLS:C0155700 {source="MEDGEN:102340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000467 {source="DOID:11312", source="NCIT:C62018"} ! second-degree atrioventricular block

[Term]
id: MONDO:0001262
name: African histoplasmosis
def: "An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "African histoplasmosis" EXACT []
synonym: "Histoplasma capsulatum var. duboisii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum var. duboisii disease or disorder" EXACT []
synonym: "Histoplasma capsulatum var. duboisii infectious disease" EXACT []
synonym: "Histoplasma duboisii infection" RELATED []
synonym: "infection by Histoplasma duboisii" RELATED []
synonym: "large form histoplasmosis" RELATED []
xref: DOID:11315 {source="MONDO:equivalentTo"}
xref: ICD9:115.10 {source="DOID:11315", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:526120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:78511005 {source="MONDO:equivalentTo"}
xref: UMLS:C0220977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:526120"}
is_a: MONDO:0002099 {source="MONDO:Redundant"} ! Histoplasma capsulatum infectious disease
is_a: MONDO:0018312 {source="DOID:11315"} ! histoplasmosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:149546 ! Histoplasma capsulatum var. duboisii

[Term]
id: MONDO:0001263
name: histoplasmosis retinitis
def: "An retinitis caused by infection with Histoplasma capsulatum." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Histoplasma capsulatum caused retinitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum retinitis" EXACT []
synonym: "histoplasmosis with retinitis" EXACT [DOID:11316]
xref: DOID:11316 {source="MONDO:equivalentTo"}
xref: ICD9:115.92 {source="DOID:11316", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187058000 {source="DOID:11316", source="MONDO:equivalentTo"}
xref: UMLS:C0153278 {source="MEDGEN:509240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002708 {source="DOID:11316", source="MONDO:Redundant"} ! retinitis
is_a: MONDO:0018312 {source="MONDO:Entailed"} ! histoplasmosis
intersection_of: MONDO:0002708 ! retinitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5037 ! Histoplasma capsulatum

[Term]
id: MONDO:0001264
name: obsolete Kyasanur forest disease
is_obsolete: true
replaced_by: MONDO:0017881

[Term]
id: MONDO:0001265
name: schizophreniform disorder
def: "A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning." [NCIT:P378]
xref: DOID:11328 {source="MONDO:equivalentTo"}
xref: ICD10CM:F20.81 {source="DOID:11328", source="MONDO:equivalentTo"}
xref: ICD9:295.4 {source="DOID:11328"}
xref: MEDGEN:11336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011618 {source="DOID:11328"}
xref: NCIT:C94376 {source="DOID:11328", source="MONDO:equivalentTo"}
xref: SCTID:88975006 {source="DOID:11328", source="MONDO:equivalentTo"}
xref: UMLS:C0036358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11336"}
is_a: MONDO:0005485 {source="DOID:11328", source="https://orcid.org/0000-0002-6601-2165"} ! psychotic disorder

[Term]
id: MONDO:0001266
name: erysipelas
def: "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." [https://rarediseases.org/rare-diseases/erysipelas/]
comment: The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes
subset: otar {source="MONDO:OTAR"}
xref: DOID:11330 {source="MONDO:equivalentTo"}
xref: EFO:1001462 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001055 {source="MONDO:otherHierarchy"}
xref: ICD10CM:A46 {source="MONDO:equivalentTo", source="DOID:11330"}
xref: ICD9:035 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11330"}
xref: MEDGEN:41855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004886 {source="MONDO:equivalentTo", source="DOID:11330"}
xref: SCTID:154305002 {source="DOID:11330"}
xref: SCTID:266005008 {source="DOID:11330"}
xref: SCTID:44653001 {source="MONDO:equivalentTo", source="DOID:11330"}
xref: UMLS:C0014733 {source="MEDGEN:41855", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 ! infectious disease
is_a: MONDO:0021201 {source="https://rarediseases.org/rare-diseases/erysipelas/"} ! skin infection
relationship: disease_has_infectious_agent NCBITaxon:1301 ! Streptococcus
relationship: excluded_subClassOf MONDO:0002406 {source="DOID:11330", source="https://orcid.org/0000-0001-5208-3432"} ! dermatitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6370/erysipelas" xsd:anyURI {source="GARD:0006370"}

[Term]
id: MONDO:0001267
name: obsolete Lemierre syndrome
synonym: "obsolete Lemierre's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0015306

[Term]
id: MONDO:0001268
name: gingival recession
def: "A loss of gum tissue resulting in an exposure of the roots of the teeth." [NCIT:P378]
synonym: "gingival recession" EXACT [DOID:1134, ICD9CM:523.2]
synonym: "gingival recession, localised" EXACT OMO:0003005 []
synonym: "gingival recession, localized" EXACT [DOID:1134, ICD9CM:523.24]
synonym: "gingival recession, unspecified" EXACT [DOID:1134, ICD9CM:523.20]
synonym: "localised gingival recession" EXACT OMO:0003005 []
synonym: "localized gingival recession" EXACT [DOID:1134]
synonym: "minimal gingival recession" EXACT [DOID:1134]
synonym: "moderate gingival recession" EXACT [DOID:1134]
synonym: "severe gingival recession" EXACT [DOID:1134]
xref: DOID:1134 {source="MONDO:equivalentTo"}
xref: ICD10CM:K06.0 {source="DOID:1134", source="MONDO:equivalentTo"}
xref: ICD9:523.2 {source="DOID:1134"}
xref: ICD9:523.20 {source="DOID:1134"}
xref: ICD9:523.21 {source="DOID:1134"}
xref: ICD9:523.22 {source="DOID:1134"}
xref: ICD9:523.23 {source="DOID:1134"}
xref: ICD9:523.24 {source="DOID:1134"}
xref: MEDGEN:6607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005889 {source="DOID:1134", source="MONDO:equivalentTo"}
xref: NCIT:C82068 {source="DOID:1134", source="MONDO:otherHierarchy"}
xref: SCTID:155645006 {source="DOID:1134"}
xref: SCTID:196360003 {source="DOID:1134"}
xref: SCTID:4356008 {source="DOID:1134"}
xref: SCTID:59898000 {source="DOID:1134", source="MONDO:equivalentTo"}
xref: UMLS:C0017572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6607"}
is_a: MONDO:0002021 {source="DOID:1134", source="MESH:D005889"} ! gingival disorder

[Term]
id: MONDO:0001269
name: scleral disorder
def: "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of sclera" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sclera" EXACT []
synonym: "disorder of sclera" EXACT [MONDO:patterns/location_top]
synonym: "sclera disease" EXACT [MONDO:patterns/location]
synonym: "sclera disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sclera disorder" EXACT [NCIT:C79717]
synonym: "scleral disorder" EXACT [NCIT:C79717]
xref: DOID:11343 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15 {source="DOID:11343"}
xref: ICD10CM:H15-H22 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H15.9 {source="DOID:11343"}
xref: ICD9:379.19
xref: MEDGEN:11345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015422 {source="MONDO:equivalentTo", source="DOID:11343"}
xref: NCIT:C79717 {source="MONDO:equivalentTo", source="DOID:11343"}
xref: Orphanet:519298 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:33064008 {source="MONDO:equivalentTo", source="DOID:11343"}
xref: UMLS:C0036412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11345"}
is_a: MONDO:0005328 {source="DOID:11343", source="MESH:D015422", source="MONDO:Redundant", source="NCIT:C79717"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001773 ! sclera

[Term]
id: MONDO:0001270
name: stone in bladder diverticulum
synonym: "calculus in diverticulum of bladder" EXACT [DOID:11354, ICD9CM:594.0]
xref: DOID:11354 {source="MONDO:equivalentTo"}
xref: ICD10CM:N21.0 {source="DOID:11354"}
xref: ICD9:594.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11354"}
xref: MEDGEN:510220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:18109005 {source="MONDO:equivalentTo", source="DOID:11354"}
xref: UMLS:C0156265 {source="MEDGEN:510220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006678 {source="DOID:11354"} ! bladder calculus
is_a: MONDO:0007197 {source="DOID:11354"} ! bladder diverticulum

[Term]
id: MONDO:0001271
name: lens subluxation
def: "A partial dislocation of the lens of the eye." [NCIT:P378]
synonym: "lens subluxation" EXACT [MONDO:ambiguous]
synonym: "lens subluxation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "subluxation of lens" EXACT [DOID:11364, ICD9CM:379.32]
xref: DOID:11364 {source="MONDO:equivalentTo"}
xref: HP:0001132 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H27.11 {source="DOID:11364"}
xref: ICD9:379.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11364"}
xref: MEDGEN:9718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007906 {source="MONDO:equivalentTo", source="DOID:11364"}
xref: NCIT:C34772 {source="MONDO:equivalentTo", source="DOID:11364"}
xref: SCTID:155203002 {source="DOID:11364"}
xref: SCTID:267748002 {source="DOID:11364"}
xref: SCTID:65814009 {source="MONDO:equivalentTo", source="DOID:11364"}
xref: UMLS:C0023316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9718"}
is_a: MONDO:0001176 {source="DOID:11364", source="MESH:D007906", source="NCIT:C34772"} ! lens disorder
property_value: IAO:0000589 "lens subluxation (disease)" xsd:string

[Term]
id: MONDO:0001272
name: functional diarrhea
xref: DOID:11371 {source="MONDO:equivalentTo"}
xref: ICD10CM:K59.1 {source="MONDO:equivalentTo", source="DOID:11371"}
xref: ICD9:564.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11371"}
xref: MEDGEN:510199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:47812002 {source="MONDO:equivalentTo", source="DOID:11371"}
xref: UMLS:C0156173 {source="MEDGEN:510199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003409 {source="DOID:11371"} ! colonic disorder

[Term]
id: MONDO:0001273
name: megacolon
def: "An abnormal dilation of the colon not due to obstruction." [NCIT:P378]
synonym: "dilatation of colon" EXACT [DOID:11372]
xref: DOID:11372 {source="MONDO:equivalentTo"}
xref: ICD10CM:K59.3 {source="DOID:11372"}
xref: ICD9:564.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008531 {source="MONDO:equivalentTo", source="DOID:11372"}
xref: NCIT:C34810 {source="MONDO:equivalentTo", source="DOID:11372"}
xref: SCTID:197138002 {source="DOID:11372"}
xref: SCTID:197144003 {source="DOID:11372"}
xref: SCTID:33995003 {source="MONDO:equivalentTo", source="DOID:11372"}
xref: UMLS:C0025160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6285"}
is_a: MONDO:0003409 {source="DOID:11372", source="MESH:D008531"} ! colonic disorder

[Term]
id: MONDO:0001274
name: anal spasm
xref: DOID:11374 {source="MONDO:equivalentTo"}
xref: ICD10CM:K59.4 {source="MONDO:equivalentTo", source="DOID:11374"}
xref: ICD9:564.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11374"}
xref: MEDGEN:508910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:17440005 {source="MONDO:equivalentTo", source="DOID:11374"}
xref: SCTID:197136003 {source="DOID:11374"}
xref: SCTID:197137007 {source="DOID:11374"}
xref: UMLS:C0152167 {source="MEDGEN:508910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002519 {source="DOID:11374"} ! anus disorder

[Term]
id: MONDO:0001275
name: spinal meningioma
def: "Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent." [https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma]
subset: gard_rare {source="GARD:10264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "meningioma (disease) of spinal cord" EXACT []
synonym: "meningioma of spinal cord" EXACT [NCIT:C6935]
synonym: "meningioma of the spinal cord" EXACT [NCIT:C6935]
synonym: "meningioma, spine" RELATED [GARD:0010264]
synonym: "spinal cord meningioma" EXACT [DOID:1138, NCIT:C6935]
synonym: "spinal cord meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:1138 {source="MONDO:equivalentTo"}
xref: GARD:10264 {source="MONDO:GARD"}
xref: MEDGEN:87576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:1138"}
xref: NCIT:C6935 {source="MONDO:equivalentTo", source="DOID:1138"}
xref: SCTID:189167009 {source="MONDO:equivalentTo", source="DOID:1138"}
xref: UMLS:C0347515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87576"}
is_a: MONDO:0001279 {source="DOID:1138", source="NCIT:C6935"} ! intraspinal meningioma
is_a: MONDO:0016642 {source="DOID:1138", source="MONDO:Entailed", source="NCIT:C6935/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma" xsd:anyURI {source="GARD:0010264"}

[Term]
id: MONDO:0001276
name: expressive language disorder
def: "A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." [NCIT:C92562]
synonym: "developmental expressive language disorder" EXACT [DOID:11385]
synonym: "expressive language disorder" EXACT [NCIT:C92562]
xref: DOID:11385 {source="MONDO:equivalentTo"}
xref: ICD10CM:F80.1 {source="MONDO:equivalentTo", source="DOID:11385"}
xref: ICD9:315.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11385"}
xref: MEDGEN:452300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92562 {source="MONDO:equivalentTo", source="DOID:11385"}
xref: SCTID:192565006 {source="DOID:11385"}
xref: SCTID:229733002 {source="MONDO:equivalentTo", source="DOID:11385"}
xref: SCTID:268734000 {source="DOID:11385"}
xref: SCTID:80360005 {source="DOID:11385"}
xref: UMLS:C0236826 {source="MEDGEN:452300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004750 {source="DOID:11385", source="NCIT:C92562"} ! language disorder

[Term]
id: MONDO:0001277
name: cerebral arteritis
def: "An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery." [MONDO:patterns/inflammatory_disease_by_site]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cerebral artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of cerebral artery" EXACT []
xref: DOID:11390 {source="MONDO:equivalentTo"}
xref: ICD9:437.4 {source="DOID:11390", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:507535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28366008 {source="DOID:11390", source="MONDO:equivalentTo"}
xref: UMLS:C0007773 {source="MEDGEN:507535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011057 {source="DOID:11390"} ! cerebrovascular disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0004449 ! cerebral artery

[Term]
id: MONDO:0001278
name: obsolete adult respiratory distress syndrome
def: "OBSOLETE. A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA." [MESH:D012128]
is_obsolete: true
replaced_by: MONDO:0006502

[Term]
id: MONDO:0001279
name: intraspinal meningioma
def: "A meningioma that arises from the spinal meninges." [NCIT:C5134]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intraspinal meningioma" EXACT [NCIT:C5134]
synonym: "meningioma of spinal canal and spinal cord" EXACT [NCIT:C5134]
synonym: "meningioma of the spinal canal and spinal cord" EXACT [NCIT:C5134]
synonym: "spinal canal and spinal cord meningioma" EXACT [NCIT:C5134]
xref: DOID:1140 {source="MONDO:equivalentTo"}
xref: MEDGEN:272774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5134 {source="MONDO:equivalentTo", source="DOID:1140"}
xref: UMLS:C1334264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272774"}
is_a: MONDO:0016642 {source="NCIT:C5134/inferred"} ! meningioma
relationship: disease_arises_from_structure UBERON:0003292 ! meninx of spinal cord
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:1140", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer

[Term]
id: MONDO:0001280
name: choroiditis
def: "An inflammatory process that affects the choroid." [NCIT:C35111]
subset: disease_grouping
subset: gard_rare {source="GARD:4457", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1601"}
subset: ordo_group_of_disorders {source="Orphanet:280892"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Choroiditides" EXACT [MESH:D002833]
synonym: "choroiditis" EXACT [NCIT:C35111, Orphanet:280892]
synonym: "Posterior Uveitis" RELATED [NORD:1601]
synonym: "posterior uveitis" RELATED [MONDO:ambiguous, NCIT:C35111]
synonym: "posterior uveitis (disease)" RELATED [MONDO:0017254]
xref: DOID:11406 {source="MONDO:equivalentTo"}
xref: GARD:4457 {source="MONDO:GARD"}
xref: HP:0012123 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H30.0 {source="Orphanet:280892", source="Orphanet:280892/btnt"}
xref: ICD10CM:H30.1 {source="Orphanet:280892", source="Orphanet:280892/btnt"}
xref: ICD10CM:H30.2 {source="Orphanet:280892", source="Orphanet:280892/btnt"}
xref: ICD10CM:H30.8 {source="Orphanet:280892", source="Orphanet:280892/btnt"}
xref: ICD10CM:H30.9 {source="DOID:11406", source="Orphanet:280892", source="Orphanet:280892/btnt"}
xref: MedDRA:10036370 {source="Orphanet:280892", source="Orphanet:280892/e"}
xref: MEDGEN:40282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002833 {source="DOID:11406", source="MONDO:equivalentTo"}
xref: NCIT:C35111 {source="DOID:11406", source="MONDO:equivalentTo"}
xref: NORD:1601 {source="MONDO:NORD"}
xref: Orphanet:280892 {source="MONDO:equivalentTo"}
xref: SCTID:16553002 {source="DOID:11406", source="MONDO:equivalentTo"}
xref: SCTID:193449000 {source="DOID:11406"}
xref: UMLS:C0008526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40282"}
is_a: MONDO:0001898 {source="DOID:11406", source="MESH:D002833", source="MONDO:Redundant"} ! optic choroid disorder
is_a: MONDO:0020283 {source="MESH:D002833/inferred", source="MONDO:Redundant", source="NCIT:C35111", source="Orphanet:280892"} ! uveitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0001281
name: alternating exotropia
def: "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." [MESH:D005099]
xref: DOID:1142 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.15 {source="DOID:1142", source="MONDO:equivalentTo"}
xref: ICD9:378.15 {source="DOID:1142", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005099 {source="DOID:1142"}
xref: SCTID:194093000 {source="DOID:1142"}
xref: SCTID:37214009 {source="DOID:1142", source="MONDO:equivalentTo"}
xref: UMLS:C0152207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101825"}
is_a: MONDO:0001286 {source="DOID:1142", source="ICD10CM:H50.15"} ! exotropia

[Term]
id: MONDO:0001282
name: fallopian tube endometriosis
def: "Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse." [NCIT:C26763]
subset: otar {source="MONDO:OTAR"}
synonym: "endometriosis (disease) of fallopian tube" EXACT []
synonym: "endometriosis of fallopian tube" EXACT [DOID:11424, ICD9CM:617.2]
synonym: "fallopian tube endometriosis" EXACT [NCIT:C26763]
synonym: "fallopian tube endometriosis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:11424 {source="MONDO:equivalentTo"}
xref: ICD10CM:N80.2 {source="DOID:11424"}
xref: ICD9:617.2 {source="DOID:11424", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:41788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26763 {source="DOID:11424", source="MONDO:equivalentTo"}
xref: SCTID:22611009 {source="DOID:11424", source="MONDO:equivalentTo"}
xref: UMLS:C0014177 {source="MEDGEN:41788", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002156 {source="DOID:11424", source="MONDO:Redundant", source="NCIT:C26763/inferred"} ! fallopian tube disorder
is_a: MONDO:0005133 {source="DOID:11424", source="ICD10CM:N80.2", source="MONDO:Redundant", source="NCIT:C26763"} ! endometriosis
intersection_of: MONDO:0005133 ! endometriosis
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0001283
name: endosalpingiosis
def: "A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain." [NCIT:C40121]
comment: endosalpingiosis is not a variant of endometriosis - PMID:22819185
synonym: "endosalpingiosis" EXACT [NCIT:C40121]
xref: DOID:11427 {source="MONDO:equivalentTo"}
xref: MEDGEN:78704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40121 {source="DOID:11427", source="MONDO:equivalentTo"}
xref: SCTID:55850004 {source="DOID:11427", source="MONDO:equivalentTo"}
xref: UMLS:C0269106 {source="MEDGEN:78704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:11427/inferred", source="NCIT:C40121/inferred"} ! female reproductive system disorder
disjoint_from: MONDO:0005133 {source="PMID:22819185"} ! endometriosis
relationship: disease_has_location UBERON:0000474 ! female reproductive system
relationship: disease_shares_features_of MONDO:0005133 ! endometriosis
relationship: excluded_subClassOf MONDO:0005133 {source="DOID:11427", source="PMID:22819185", source="https://orcid.org/0000-0001-5208-3432"} ! endometriosis

[Term]
id: MONDO:0001284
name: endometriosis of intestine
def: "Endometriosis that affects the intesines." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229526/]
synonym: "endometriosis (disease) of intestine" EXACT []
synonym: "intestine endometriosis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:11428 {source="MONDO:equivalentTo"}
xref: ICD10CM:N80.5 {source="DOID:11428", source="MONDO:equivalentTo"}
xref: ICD9:617.5 {source="DOID:11428", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198255005 {source="DOID:11428"}
xref: SCTID:5562006 {source="DOID:11428", source="MONDO:equivalentTo"}
xref: UMLS:C0156347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510251"}
is_a: MONDO:0005020 {source="DOID:11428", source="MONDO:Redundant"} ! intestinal disorder
is_a: MONDO:0005133 {source="DOID:11428", source="ICD10CM:N80.5", source="MONDO:Redundant"} ! endometriosis
intersection_of: MONDO:0005133 ! endometriosis
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0001285
name: endometriosis of pelvic peritoneum
subset: otar {source="MONDO:OTAR"}
xref: DOID:11429 {source="MONDO:equivalentTo"}
xref: ICD10CM:N80.3 {source="MONDO:equivalentTo", source="DOID:11429"}
xref: ICD9:617.3 {source="MONDO:equivalentTo", source="DOID:11429", source="MONDO:i2s"}
xref: MEDGEN:510249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198251001 {source="MONDO:equivalentTo", source="DOID:11429"}
xref: SCTID:198252008 {source="DOID:11429"}
xref: UMLS:C0156345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510249"}
is_a: MONDO:0005133 {source="DOID:11429", source="ICD10CM:N80.3", source="MONDO:Redundant"} ! endometriosis
intersection_of: MONDO:0005133 ! endometriosis
intersection_of: disease_has_location UBERON:0002355 ! pelvic region of trunk
intersection_of: disease_has_location UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0001286
name: exotropia
def: "A form of strabismus in which the eyes are deviated laterally." [NCIT:P378]
synonym: "divergent concomitant strabismus" EXACT [DOID:1143]
synonym: "divergent strabismus" EXACT [DOID:1143, NCIT:C34601]
xref: DOID:1143 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.1 {source="DOID:1143", source="MONDO:equivalentTo"}
xref: ICD10CM:H50.10 {source="DOID:1143"}
xref: ICD9:378.1 {source="DOID:1143"}
xref: ICD9:378.10 {source="DOID:1143"}
xref: MEDGEN:4613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005099 {source="DOID:1143", source="MONDO:equivalentTo"}
xref: NCIT:C34601 {source="DOID:1143", source="MONDO:equivalentTo"}
xref: SCTID:155194007 {source="DOID:1143"}
xref: SCTID:194086004 {source="DOID:1143"}
xref: SCTID:194098009 {source="DOID:1143"}
xref: SCTID:399054005 {source="DOID:1143"}
xref: SCTID:399252000 {source="DOID:1143", source="MONDO:equivalentTo"}
xref: SCTID:75400001 {source="DOID:1143"}
xref: UMLS:C0015310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4613"}
is_a: MONDO:0003432 {source="DOID:1143", source="NCIT:C34601"} ! strabismus

[Term]
id: MONDO:0001287
name: endometriosis in cutaneous scar
synonym: "endometriosis in scar of skin" EXACT []
synonym: "scar endometriosis" RELATED []
xref: DOID:11430 {source="MONDO:equivalentTo"}
xref: ICD10CM:N80.6 {source="MONDO:equivalentTo", source="DOID:11430"}
xref: ICD9:617.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11430"}
xref: MEDGEN:510252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:53913001 {source="MONDO:equivalentTo", source="DOID:11430"}
xref: UMLS:C0156348 {source="MEDGEN:510252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005133 {source="DOID:11430", source="ICD10CM:N80.6"} ! endometriosis

[Term]
id: MONDO:0001288
name: endometriosis of rectovaginal septum and vagina
def: "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina." [NCIT:C128064]
subset: otar {source="MONDO:OTAR"}
synonym: "vaginal endometriosis" EXACT [NCIT:C128064]
xref: DOID:11431 {source="MONDO:equivalentTo"}
xref: ICD10CM:N80.4 {source="MONDO:equivalentTo", source="DOID:11431"}
xref: ICD9:617.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11431"}
xref: MEDGEN:510250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128064 {source="MONDO:equivalentTo"}
xref: SCTID:198253003 {source="MONDO:equivalentTo", source="DOID:11431"}
xref: SCTID:198254009 {source="DOID:11431"}
xref: UMLS:C0156346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510250"}
is_a: MONDO:0005133 {source="DOID:11431", source="ICD10CM:N80.4", source="NCIT:C128064"} ! endometriosis

[Term]
id: MONDO:0001289
name: obsolete endometriosis of ovary
is_obsolete: true
replaced_by: MONDO:0006337

[Term]
id: MONDO:0001290
name: allergic cutaneous vasculitis
def: "Inflammation of the small vessels of the skin that is mediated by the immune system." [NCIT:C35119]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "allergic cutaneous angiitis" EXACT [DOID:11450, NCIT:C35119]
synonym: "autoimmune hypersensitivity angiitis" EXACT [DOID:11450]
xref: DOID:11450 {source="MONDO:equivalentTo"}
xref: MEDGEN:57718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35119 {source="MONDO:equivalentTo"}
xref: UMLS:C0151436 {source="MEDGEN:57718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:11450", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0006794 {source="DOID:11450", source="MONDO:Redundant"} ! hypersensitivity vasculitis
is_a: MONDO:0018882 {source="MONDO:Entailed", source="NCIT:C35119/inferred"} ! vasculitis
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity
intersection_of: disease_has_inflammation_site UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0001291
name: brain compression
xref: DOID:11457 {source="MONDO:equivalentTo"}
xref: ICD10CM:G93.5 {source="DOID:11457", source="MONDO:equivalentTo"}
xref: ICD9:348.4 {source="DOID:11457", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:507585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193053006 {source="DOID:11457"}
xref: SCTID:46963008 {source="DOID:11457", source="MONDO:equivalentTo"}
xref: UMLS:C0009592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507585"}
is_a: MONDO:0005560 {source="DOID:11457"} ! brain disorder

[Term]
id: MONDO:0001292
name: autonomic nervous system disorder
def: "A disease involving the autonomic nervous system." [https://orcid.org/0000-0002-6601-2165]
comment: Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html
subset: otar {source="MONDO:OTAR"}
synonym: "ANS (autonomic nervous system) diseases" RELATED [MESH:D001342]
synonym: "ANS disease" RELATED [MESH:D001342]
synonym: "ANS diseases" RELATED [MESH:D001342]
synonym: "autonomic central nervous system diseases" RELATED [MESH:D001342]
synonym: "autonomic disease" RELATED [MESH:D001342]
synonym: "autonomic diseases" RELATED [MESH:D001342]
synonym: "autonomic dysfunction, segmental" RELATED [MESH:D001342]
synonym: "autonomic dysfunctions, segmental" RELATED [MESH:D001342]
synonym: "autonomic nervous disease" EXACT [DOID:11465]
synonym: "autonomic nervous system disease" EXACT [MONDO:patterns/location]
synonym: "autonomic nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "autonomic nervous system disorder" EXACT [DOID:11465]
synonym: "autonomic nervous system disorders" RELATED [MESH:D001342]
synonym: "autonomic peripheral nervous system diseases" NARROW [MESH:D001342]
synonym: "central autonomic nervous system diseases" RELATED [MESH:D001342]
synonym: "disease of autonomic nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of autonomic nervous system" EXACT []
synonym: "disorder of autonomic nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of peripheral autonomic nervous system" EXACT []
synonym: "disorder of the autonomic nervous system" EXACT [ISBN-13:978-1-259-64403-0]
synonym: "disorders of the autonomic nervous system" RELATED [MESH:D001342]
synonym: "dysautonomia" NARROW []
synonym: "nervous system diseases, autonomic" RELATED [MESH:D001342]
synonym: "nervous system diseases, sympathetic" RELATED [MESH:D001342]
synonym: "peripheral autonomic nervous system diseases" NARROW [MESH:D001342]
synonym: "segmental autonomic dysfunction" RELATED [MESH:D001342]
synonym: "segmental autonomic dysfunctions" RELATED [MESH:D001342]
xref: DOID:11465 {source="MONDO:equivalentTo"}
xref: EFO:0009532 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:337.1 {source="DOID:11465"}
xref: ICD9:337.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:218837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001342 {source="MONDO:equivalentTo"}
xref: SCTID:128123007 {source="MONDO:equivalentTo"}
xref: SCTID:15241006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1145628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:218837"}
is_a: MONDO:0002602 {source="ISBN-13:978-1-259-64403-0"} ! central nervous system disorder
is_a: MONDO:0003620 {source="DOID:11465", source="MONDO:Redundant"} ! peripheral nervous system disorder
is_a: MONDO:0005071 {source="DOID:11465/inferred", source="MESH:D001342", source="MONDO:Redundant"} ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002410 ! autonomic nervous system
relationship: disease_has_major_feature HP:0012332 ! Abnormal autonomic nervous system physiology
relationship: excluded_subClassOf MONDO:0001300 {source="https://orcid.org/0000-0001-5208-3432"} ! autonomic neuropathy

[Term]
id: MONDO:0001293
name: subglottis cancer
def: "A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." [NCIT:P378]
synonym: "Ca larynx - subglottis" EXACT [DOID:11472]
synonym: "cancer of subglottis" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of subglottis" EXACT [MONDO:patterns/cancer, NCIT:C3546]
synonym: "malignant neoplasm of the subglottis" EXACT [NCIT:C3546]
synonym: "malignant subglottic neoplasm" EXACT [NCIT:C3546]
synonym: "malignant subglottic tumor" EXACT [DOID:11472, NCIT:C3546]
synonym: "malignant subglottic tumour" EXACT OMO:0003005 []
synonym: "malignant subglottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3546]
synonym: "malignant subglottis tumor" EXACT [NCIT:C3546]
synonym: "malignant subglottis tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of subglottis" EXACT [NCIT:C3546]
synonym: "malignant tumor of the subglottis" EXACT [NCIT:C3546]
synonym: "malignant tumour of subglottis" EXACT OMO:0003005 []
synonym: "malignant tumour of the subglottis" EXACT OMO:0003005 []
synonym: "subglottis cancer" EXACT [MONDO:patterns/location]
xref: DOID:11472 {source="MONDO:equivalentTo"}
xref: ICD10CM:C32.2 {source="MONDO:equivalentTo", source="DOID:11472"}
xref: ICD9:161.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11472"}
xref: MEDGEN:57562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3546 {source="MONDO:equivalentTo", source="DOID:11472"}
xref: SCTID:154483008 {source="DOID:11472"}
xref: SCTID:269559002 {source="DOID:11472"}
xref: SCTID:363430007 {source="MONDO:equivalentTo", source="DOID:11472"}
xref: SCTID:94075002 {source="DOID:11472"}
xref: UMLS:C0153485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57562"}
is_a: MONDO:0000933 {source="MONDO:Redundant", source="NCIT:C3546"} ! subglottis neoplasm
is_a: MONDO:0002352 {source="DOID:11472", source="MONDO:Redundant", source="NCIT:C3546"} ! larynx cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0036068 ! subglottis

[Term]
id: MONDO:0001294
name: Horner syndrome
def: "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause." [https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bernard Horner syndrome" EXACT [DOID:11486]
synonym: "Bernard-Horner syndrome" RELATED [GARD:0006670]
synonym: "cervical sympathetic paralysis" EXACT [DOID:11486]
synonym: "Horner syndrome" EXACT [DOID:11486]
synonym: "Horner's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "oculosympathetic palsy" RELATED [GARD:0006670]
xref: DOID:11486 {source="MONDO:equivalentTo"}
xref: ICD10CM:G90.2 {source="DOID:11486"}
xref: ICD9:337.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006732 {source="MONDO:equivalentTo", source="DOID:11486"}
xref: NCIT:C28155 {source="MONDO:equivalentTo", source="DOID:11486"}
xref: SCTID:12731000 {source="DOID:11486"}
xref: SCTID:192915005 {source="MONDO:equivalentTo", source="DOID:11486"}
xref: SCTID:192922002 {source="DOID:11486"}
xref: SCTID:271730003 {source="DOID:11486"}
xref: UMLS:C0019937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5616"}
is_a: MONDO:0001300 {source="DOID:11486"} ! autonomic neuropathy
is_a: MONDO:0005244 {source="MONDO:Redundant", source="NCIT:C28155"} ! peripheral neuropathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome" xsd:anyURI {source="GARD:0006670"}

[Term]
id: MONDO:0001295
name: idiopathic peripheral autonomic neuropathy
xref: DOID:11488 {source="MONDO:equivalentTo"}
xref: ICD10CM:G90.0 {source="MONDO:equivalentTo", source="DOID:11488"}
xref: ICD10CM:G90.09 {source="DOID:11488"}
xref: ICD9:337.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11488"}
xref: ICD9:337.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:192914009 {source="DOID:11488"}
xref: SCTID:192916006 {source="DOID:11488"}
xref: SCTID:86489003 {source="MONDO:equivalentTo", source="DOID:11488"}
xref: UMLS:C0154690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509630"}
is_a: MONDO:0001292 {source="DOID:11488"} ! autonomic nervous system disorder
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0001296
name: acquired night blindness
def: "An instance of night blindness that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired night blindness" EXACT [MONDO:patterns/acquired]
xref: DOID:11491 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.62 {source="DOID:11491", source="MONDO:equivalentTo"}
xref: ICD9:368.62 {source="DOID:11491", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:53808001 {source="DOID:11491", source="MONDO:equivalentTo"}
xref: UMLS:C0152202 {source="MEDGEN:508926", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004588 {source="ICD10CM:H53.62", source="MONDO:Redundant"} ! night blindness
is_a: MONDO:0006873 {source="DOID:11491"} ! nutritional deficiency disease
intersection_of: MONDO:0004588 ! night blindness
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0001297
name: cardiac tamponade
def: "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "pericardial tamponade" EXACT [DOID:115]
synonym: "rose's tamponade" EXACT [DOID:115]
xref: DOID:115 {source="MONDO:equivalentTo"}
xref: EFO:1001285 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I31.4 {source="DOID:115", source="MONDO:equivalentTo"}
xref: ICD9:423.3 {source="DOID:115", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:40108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002305 {source="DOID:115", source="MONDO:equivalentTo"}
xref: NCIT:C50481 {source="DOID:115", source="MONDO:equivalentTo"}
xref: SCTID:155341007 {source="DOID:115"}
xref: SCTID:194975004 {source="DOID:115"}
xref: SCTID:266295005 {source="DOID:115"}
xref: SCTID:35304003 {source="DOID:115", source="MONDO:equivalentTo"}
xref: UMLS:C0007177 {source="MONDO:equivalentTo", source="MEDGEN:40108", source="MONDO:MEDGEN"}
is_a: MONDO:0001370 {source="DOID:115"} ! pericardial effusion

[Term]
id: MONDO:0001298
name: congenital mitral valve insufficiency
def: "Dysfunction of the mitral valve characterized by incomplete valve closure." [NCIT:P378]
synonym: "congenital insufficiency of mitral valve" EXACT []
synonym: "congenital mitral insufficiency" EXACT [DOID:11502]
synonym: "congenital mitral regurgitation" EXACT [DOID:11502]
synonym: "insufficiency, mitral" EXACT [NCIT:C50888]
synonym: "mitral insufficiency" EXACT [NCIT:C50888]
synonym: "mitral regurgitation" EXACT [DOID:11502]
synonym: "mitral valve incompetence" EXACT [DOID:11502]
synonym: "mitral valve insufficiency" RELATED [DOID:11502]
xref: DOID:11502 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q23.3 {source="DOID:11502"}
xref: ICD9:396.3 {source="DOID:11502"}
xref: ICD9:746.6 {source="DOID:11502", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008944 {source="DOID:11502", source="MONDO:equivalentTo"}
xref: NANDO:2200303 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50852 {source="DOID:11502"}
xref: NCIT:C50888 {source="DOID:11502", source="MONDO:equivalentTo"}
xref: SCTID:194736003 {source="DOID:11502"}
xref: SCTID:194977007 {source="DOID:11502"}
xref: SCTID:233857005 {source="DOID:11502"}
xref: SCTID:29928006 {source="DOID:11502", source="MONDO:equivalentTo"}
xref: SCTID:48724000 {source="DOID:11502"}
xref: UMLS:C0158619 {source="MEDGEN:510600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002869 {source="DOID:11502/inferred", source="MESH:D008944", source="NCIT:C50888/inferred"} ! heart valve disorder
is_a: MONDO:0003767 {source="DOID:11502", source="NCIT:C50888"} ! mitral valve disorder
intersection_of: MONDO:0020674 ! vascular insufficiency disorder
intersection_of: disease_has_location UBERON:0002135 ! mitral valve

[Term]
id: MONDO:0001299
name: diabetic autonomic neuropathy
def: "Autonomic neuropathy that is caused by diabetes mellitus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:11503 {source="MONDO:equivalentTo"}
xref: ICD9:337.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003929 {source="DOID:11503"}
xref: NCIT:C27068 {source="DOID:11503", source="MONDO:equivalentTo"}
xref: SCTID:50620007 {source="DOID:11503", source="MONDO:equivalentTo"}
xref: UMLS:C0271686 {source="MONDO:equivalentTo", source="MEDGEN:82887", source="MONDO:MEDGEN"}
is_a: MONDO:0001300 {source="DOID:11503", source="MONDO:Redundant", source="NCIT:C27068"} ! autonomic neuropathy
is_a: MONDO:0006626 {source="DOID:11503", source="MONDO:Redundant", source="NCIT:C27068"} ! diabetic neuropathy
intersection_of: MONDO:0001300 ! autonomic neuropathy
intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus

[Term]
id: MONDO:0001300
name: autonomic neuropathy
def: "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." [NCIT:C27033]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autonomic nervous system peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "autonomic peripheral neuropathy" EXACT [MONDO:0000604]
synonym: "peripheral neuropathy of autonomic nervous system" EXACT [MONDO:design_pattern]
xref: CSP:2042-2001 {source="DOID:11504"}
xref: CSP:2049-9000 {source="DOID:11504"}
xref: DOID:0060054 {source="MONDO:equivalentTo"}
xref: DOID:11504 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MEDGEN:82621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27033 {source="DOID:11504", source="MONDO:equivalentTo"}
xref: SCTID:277879009 {source="DOID:11504", source="MONDO:equivalentTo"}
xref: UMLS:C0259749 {source="MEDGEN:82621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001292 {source="DOID:11504", source="MONDO:Redundant"} ! autonomic nervous system disorder
is_a: MONDO:0005244 {source="DOID:0060054", source="MONDO:Redundant", source="NCIT:C27033"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_has_location UBERON:0002410 ! autonomic nervous system

[Term]
id: MONDO:0001301
name: rumination disorder
def: "Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment." [https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder]
synonym: "psychogenic rumination" EXACT [DOID:11507]
synonym: "rumination" EXACT [NCIT:C92567]
synonym: "rumination syndrome" RELATED [GARD:0007594]
xref: DOID:11507 {source="MONDO:equivalentTo"}
xref: ICD9:307.53 {source="DOID:11507"}
xref: MEDGEN:102311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019959 {source="DOID:11507", source="MONDO:equivalentTo"}
xref: NCIT:C92567 {source="DOID:11507", source="MONDO:equivalentTo"}
xref: SCTID:192014006 {source="MONDO:equivalentTo"}
xref: SCTID:37941009 {source="DOID:11507"}
xref: UMLS:C0154575 {source="MEDGEN:102311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005451 {source="DOID:11507"} ! eating disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder" xsd:anyURI {source="GARD:0007594"}

[Term]
id: MONDO:0001302
name: hypertensive heart disease
def: "Abnormal enlargement of the heart resulting from long-standing hypertension." [NCIT:C4907]
subset: otar {source="MONDO:OTAR"}
synonym: "hypertensive cardiomegaly" RELATED []
synonym: "hypertensive cardiopathy" RELATED []
synonym: "hypertensive cardiovascular disease" RELATED []
synonym: "hypertensive heart disease" EXACT []
xref: DOID:11516 {source="MONDO:equivalentTo"}
xref: ICD10CM:I11 {source="DOID:11516"}
xref: ICD10CM:I11.9 {source="DOID:11516"}
xref: ICD9:402 {source="DOID:11516"}
xref: ICD9:402.9 {source="DOID:11516"}
xref: MEDGEN:508889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4907 {source="MONDO:equivalentTo"}
xref: SCTID:155297007 {source="DOID:11516"}
xref: SCTID:194769003 {source="DOID:11516"}
xref: SCTID:194772005 {source="DOID:11516"}
xref: SCTID:64715009 {source="DOID:11516", source="MONDO:equivalentTo"}
xref: UMLS:C0152105 {source="MEDGEN:508889", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="DOID:11516", source="MONDO:Redundant", source="NCIT:C4907/inferred"} ! heart disorder
intersection_of: MONDO:0005267 ! heart disorder
intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder

[Term]
id: MONDO:0001303
name: abnormal pupillary function
synonym: "abnormal pupillary function" EXACT [MONDO:ambiguous]
synonym: "abnormal pupillary function (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11518 {source="MONDO:equivalentTo"}
xref: HP:0007686 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H57.09 {source="DOID:11518"}
xref: ICD9:379.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:379.49 {source="MONDO:relatedTo", source="DOID:11518", source="MONDO:i2s"}
xref: MEDGEN:214629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:72124005 {source="MONDO:equivalentTo"}
xref: UMLS:C0917967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:214629"}
is_a: MONDO:0002285 {source="DOID:11518"} ! pupil disorder
property_value: IAO:0000589 "abnormal pupillary function (disease)" xsd:string

[Term]
id: MONDO:0001304
name: benign hypertensive renal disease
synonym: "hypertensive renal disease, benign" EXACT [DOID:11520, ICD9CM:403.1]
synonym: "hypertensive renal disease, benign, without mention of renal failure" EXACT [DOID:11520, ICD9CM:403.10]
xref: DOID:11520 {source="MONDO:equivalentTo"}
xref: ICD9:403.1 {source="DOID:11520"}
xref: ICD9:403.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11520"}
xref: MEDGEN:510035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193003 {source="MONDO:equivalentTo", source="DOID:11520"}
xref: UMLS:C0155596 {source="MEDGEN:510035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024633 ! hypertensive nephropathy
relationship: excluded_subClassOf MONDO:0001105 {source="DOID:11520", source="https://orcid.org/0000-0001-5208-3432"} ! renal hypertension

[Term]
id: MONDO:0001305
name: laryngostenosis
def: "Narrowing of the laryngeal airway." [NCIT:P378]
synonym: "stenosis of larynx" EXACT [DOID:11527]
xref: DOID:11527 {source="MONDO:equivalentTo"}
xref: HP:0001602 {source="MONDO:otherHierarchy"}
xref: ICD10CM:J38.6 {source="DOID:11527", source="MONDO:equivalentTo"}
xref: ICD9:478.74 {source="DOID:11527", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:7274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007829 {source="DOID:11527", source="MONDO:equivalentTo"}
xref: NCIT:C79608 {source="DOID:11527", source="MONDO:otherHierarchy"}
xref: SCTID:195864007 {source="DOID:11527"}
xref: SCTID:75547007 {source="DOID:11527", source="MONDO:equivalentTo"}
xref: UMLS:C0023075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7274"}
is_a: MONDO:0004382 {source="DOID:11527", source="MESH:D007829"} ! laryngeal disorder

[Term]
id: MONDO:0001306
name: obsolete recurrent corneal erosion
synonym: "recurrent erosion of cornea" EXACT [DOID:11541, ICD9CM:371.42]
synonym: "recurrent erosion syndrome" EXACT [DOID:11541]
xref: DOID:11541 {source="MONDO:obsoleteEquivalent"}
xref: HP:0000495 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H18.83 {source="DOID:11541"}
xref: ICD9:371.42 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:11541"}
xref: SCTID:155157003 {source="DOID:11541"}
xref: SCTID:2055003 {source="MONDO:obsoleteEquivalent", source="DOID:11541"}
xref: SCTID:267732003 {source="DOID:11541"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: HP:0000495

[Term]
id: MONDO:0001307
name: corneal abscess
def: "An abscess of the cornea." [NCIT:P378]
comment: Editor note: consider placing in HPO
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:11543 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.31 {source="DOID:11543"}
xref: ICD9:370.55 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11543"}
xref: MEDGEN:56351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26969 {source="MONDO:equivalentTo", source="DOID:11543"}
xref: SCTID:64366002 {source="MONDO:equivalentTo", source="DOID:11543"}
xref: UMLS:C0155091 {source="MEDGEN:56351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004903 {source="DOID:11543"} ! deep keratitis
is_a: MONDO:0005227 {source="NCIT:C26969"} ! abscess

[Term]
id: MONDO:0001308
name: corneal deposit
comment: Editor note: consider placing in HPO
synonym: "deposits - cornea" EXACT [DOID:11547]
xref: DOID:11547 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.0 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.00 {source="DOID:11547"}
xref: ICD9:371.10 {source="DOID:11547", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:511537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193803001 {source="DOID:11547"}
xref: SCTID:193804007 {source="DOID:11547"}
xref: SCTID:74460005 {source="DOID:11547", source="MONDO:equivalentTo"}
xref: UMLS:C0162281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:511537"}
is_a: MONDO:0000942 {source="DOID:11547"} ! corneal disorder

[Term]
id: MONDO:0001309
name: oculomotor nerve paralysis
def: "Paralysis of the oculomotor nerve." [NCIT:C27597]
subset: disease_grouping
subset: gard_rare {source="GARD:19544", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98685"}
subset: rare
synonym: "cranial nerve palsy of oculomotor nerve" EXACT [MONDO:design_pattern]
synonym: "III nerve palsy" EXACT [DOID:11550]
synonym: "IIIrd nerve paralysis" EXACT [DOID:11550, NCIT:C27597]
synonym: "oculomotor nerve cranial nerve palsy" EXACT [MONDO:patterns/location]
synonym: "oculomotor nerve paralysis" EXACT []
synonym: "oculomotor palsy" EXACT [MONDO:0020255]
synonym: "third cranial nerve paralysis" EXACT [DOID:11550]
synonym: "third cranial nerve paralysis, NOS" RELATED EXCLUDE [DOID:11550]
xref: DOID:11550 {source="MONDO:equivalentTo"}
xref: GARD:19544 {source="MONDO:GARD"}
xref: ICD10CM:H49.0 {source="DOID:11550"}
xref: MEDGEN:14459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015840 {source="DOID:11550"}
xref: NCIT:C27597 {source="MONDO:equivalentTo", source="DOID:11550"}
xref: Orphanet:98685 {source="MONDO:equivalentTo"}
xref: SCTID:12900003 {source="DOID:11550"}
xref: SCTID:30764004 {source="DOID:11550"}
xref: SCTID:388980004 {source="MONDO:equivalentTo", source="DOID:11550"}
xref: UMLS:C0028866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14459"}
is_a: MONDO:0002782 {source="MONDO:Redundant", source="NCIT:C27597"} ! cranial nerve palsy
is_a: MONDO:0003546 {source="DOID:11550", source="MONDO:Redundant", source="NCIT:C27597"} ! third cranial nerve disorder
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
intersection_of: MONDO:0002782 ! cranial nerve palsy
intersection_of: disease_has_location UBERON:0001643 ! oculomotor nerve
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0001310
name: Bowman's membrane folds or rupture
synonym: "Bowman membrane folds or rupture" EXACT [DOID:11552]
synonym: "folds and/or rupture of bowman's membrane" EXACT []
xref: DOID:11552 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.31 {source="DOID:11552"}
xref: ICD9:371.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11552"}
xref: MEDGEN:509796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193820002 {source="DOID:11552"}
xref: SCTID:45382000 {source="MONDO:equivalentTo", source="DOID:11552"}
xref: UMLS:C0155115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509796"}
is_a: MONDO:0000942 {source="DOID:11552"} ! corneal disorder
relationship: disease_has_location UBERON:0004370 ! anterior limiting lamina of cornea

[Term]
id: MONDO:0001311
name: obsolete Chandler syndrome
is_obsolete: true
replaced_by: MONDO:0020369

[Term]
id: MONDO:0001312
name: acute serous otitis media
def: "A acute transudative otitis media with thin, watery and sterile effusion." [DOID:11557, http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false]
synonym: "acute non-suppurative otitis media - serous" EXACT [DOID:11557]
xref: DOID:11557 {source="MONDO:equivalentTo"}
xref: ICD10CM:H65.0 {source="DOID:11557", source="MONDO:equivalentTo"}
xref: ICD10CM:H65.00 {source="DOID:11557"}
xref: ICD9:381.01 {source="DOID:11557", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:11957006 {source="DOID:11557"}
xref: SCTID:194240006 {source="DOID:11557", source="MONDO:equivalentTo"}
xref: UMLS:C0155415 {source="MEDGEN:509955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002738 {source="DOID:11557"} ! acute transudative otitis media
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001313
name: acute allergic serous otitis media
def: "A acute serous otitis media caused by an allergen." [DOID:11558, PMID:15301306]
xref: DOID:11558 {source="MONDO:equivalentTo"}
xref: ICD9:381.04 {source="DOID:11558", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194241005 {source="DOID:11558"}
xref: SCTID:59275002 {source="DOID:11558", source="MONDO:equivalentTo"}
xref: UMLS:C0155418 {source="MEDGEN:509956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001312 {source="DOID:11558"} ! acute serous otitis media
is_a: MONDO:0021202 ! allergic otitis media
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001314
name: chondrocalcinosis
def: "An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "calcium pyrophosphate deposition disease" EXACT [DOID:1156]
synonym: "pseudogout" EXACT [DOID:1156]
xref: DOID:1156 {source="MONDO:equivalentTo"}
xref: HP:0000934 {source="DOID:1156", source="MONDO:otherHierarchy"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:712.1 {source="DOID:1156"}
xref: MEDGEN:154303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002805 {source="DOID:1156", source="MONDO:equivalentTo"}
xref: NCIT:C34955 {source="DOID:1156", source="MONDO:equivalentTo"}
xref: Orphanet:1416 {source="DOID:1156"}
xref: SCTID:156881000 {source="DOID:1156"}
xref: SCTID:201624004 {source="DOID:1156"}
xref: SCTID:201625003 {source="DOID:1156"}
xref: SCTID:201636005 {source="DOID:1156"}
xref: SCTID:239832006 {source="MONDO:equivalentTo"}
xref: SCTID:239834007 {source="DOID:1156"}
xref: SCTID:268142006 {source="DOID:1156"}
xref: SCTID:60782007 {source="DOID:1156"}
xref: UMLS:C0553730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154303"}
is_a: MONDO:0005066 {source="NCIT:C34955"} ! metabolic disease
is_a: MONDO:0005578 {source="DOID:1156", source="MESH:D002805", source="NCIT:C34955"} ! arthritic joint disease
is_a: MONDO:0800486 {source="NCIT:C34955"} ! metabolic bone disorder
relationship: disease_has_feature HP:0001369 ! Arthritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7006" xsd:anyURI

[Term]
id: MONDO:0001315
name: neurocirculatory asthenia
def: "A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder." [MESH:D009449]
synonym: "cardiovascular malfunction arising from mental factors" EXACT [DOID:11569, ICD9CM:306.2]
synonym: "cardiovascular neurosis" EXACT [DOID:11569]
synonym: "Da Costa's syndrome" EXACT [DOID:11569]
synonym: "Krishaber's disease" EXACT [DOID:11569]
xref: DOID:11569 {source="MONDO:equivalentTo"}
xref: ICD9:306.2 {source="DOID:11569", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:283928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009449 {source="DOID:11569", source="MONDO:equivalentTo"}
xref: SCTID:154922007 {source="DOID:11569"}
xref: SCTID:191960008 {source="DOID:11569"}
xref: SCTID:191961007 {source="DOID:11569"}
xref: SCTID:191962000 {source="DOID:11569", source="MONDO:equivalentTo"}
xref: SCTID:191963005 {source="DOID:11569"}
xref: SCTID:192434000 {source="DOID:11569"}
xref: SCTID:46219009 {source="DOID:11569"}
xref: SCTID:72994002 {source="DOID:11569"}
xref: UMLS:C1535893 {source="MEDGEN:283928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003117 {source="DOID:11569"} ! somatoform disorder
is_a: MONDO:0005618 {source="MESH:D009449"} ! anxiety disorder

[Term]
id: MONDO:0001316
name: streptococcal meningitis
def: "An infectious meningitis caused by infection with Streptococcus." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Streptococcus caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus infectious meningitis" EXACT []
xref: DOID:11574 {source="MONDO:equivalentTo"}
xref: ICD10CM:G00.2 {source="MONDO:equivalentTo", source="DOID:11574"}
xref: ICD9:320.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11574"}
xref: MEDGEN:509616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:4510004 {source="MONDO:equivalentTo", source="DOID:11574"}
xref: UMLS:C0154639 {source="MEDGEN:509616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006670 {source="DOID:11574", source="MONDO:Redundant"} ! bacterial meningitis
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:1301 ! Streptococcus

[Term]
id: MONDO:0001317
name: phlyctenulosis
synonym: "Phlyctenular keratoconjunctivitis" EXACT [DOID:11581]
synonym: "strumous ophthalmia" EXACT [DOID:11581]
xref: DOID:11581 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.25 {source="DOID:11581"}
xref: ICD9:370.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11581"}
xref: MEDGEN:509775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193773009 {source="DOID:11581"}
xref: SCTID:67895005 {source="MONDO:equivalentTo", source="DOID:11581"}
xref: UMLS:C0155080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509775"}
is_a: MONDO:0004768 {source="DOID:11581"} ! keratoconjunctivitis

[Term]
id: MONDO:0001318
name: functional gastric disease
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of function of stomach" EXACT []
synonym: "disorder of gastric function" EXACT []
synonym: "disorder of stomach function" EXACT []
synonym: "functional gastric disorder" EXACT []
synonym: "functional gastric disturbance" RELATED []
xref: DOID:1159 {source="MONDO:equivalentTo"}
xref: ICD9:306.4
xref: ICD9:536.8 {source="DOID:1159"}
xref: ICD9:536.9
xref: MEDGEN:510176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:150541000119104 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:386211005 {source="MONDO:equivalentTo"}
xref: UMLS:C0156084 {source="MEDGEN:510176", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="DOID:1159/inferred"} ! disease
is_a: MONDO:0004298 {source="DOID:1159", source="MONDO:Redundant"} ! stomach disorder
relationship: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0001319
name: bladder lateral wall cancer
synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [DOID:11593, ICD9CM:188.2]
xref: DOID:11593 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67.2 {source="DOID:11593"}
xref: ICD9:188.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11593"}
xref: MEDGEN:105417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12333 {source="MONDO:otherHierarchy", source="DOID:11593"}
xref: SCTID:188241004 {source="MONDO:equivalentTo", source="DOID:11593"}
xref: SCTID:93863000 {source="DOID:11593"}
xref: UMLS:C0496828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105417"}
is_a: MONDO:0001187 {source="DOID:11593"} ! urinary bladder cancer
property_value: excluded_synonym "Lateral Wall of bladder" xsd:string {source="DOID:11593"}

[Term]
id: MONDO:0001320
name: ring staphyloma
comment: Editor note: consider placing in HPO
xref: DOID:11594 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.85 {source="DOID:11594"}
xref: ICD9:379.15 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11594"}
xref: MEDGEN:509937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:5299007 {source="MONDO:equivalentTo", source="DOID:11594"}
xref: UMLS:C0155363 {source="MEDGEN:509937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001269 ! scleral disorder

[Term]
id: MONDO:0001321
name: obsolete scleral staphyloma
synonym: "scleral ectasia" EXACT [DOID:11595, ICD9CM:379.11]
synonym: "scleral staphyloma" EXACT [MONDO:ambiguous]
synonym: "scleral staphyloma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11595 {source="MONDO:obsoleteEquivalent"}
xref: HP:0030854 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H15.84 {source="DOID:11595"}
xref: ICD9:379.11 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:11595"}
xref: SCTID:111534007 {source="MONDO:obsoleteEquivalent", source="DOID:11595"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
property_value: IAO:0000589 "scleral staphyloma (disease)" xsd:string
is_obsolete: true
consider: HP:0030854

[Term]
id: MONDO:0001322
name: pericardium cancer
def: "A malignant neoplasm involving the pericardium." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of pericardium" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pericardium" EXACT [DOID:116, MONDO:patterns/cancer, NCIT:C4567]
synonym: "malignant neoplasm of the pericardium" EXACT [NCIT:C4567]
synonym: "malignant pericardial neoplasm" EXACT [NCIT:C4567]
synonym: "malignant pericardial tumor" EXACT [NCIT:C4567]
synonym: "malignant pericardial tumour" EXACT OMO:0003005 []
synonym: "malignant pericardium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of pericardium" EXACT [DOID:116, NCIT:C4567]
synonym: "malignant tumor of the pericardium" EXACT [NCIT:C4567]
synonym: "malignant tumour of pericardium" EXACT OMO:0003005 []
synonym: "malignant tumour of the pericardium" EXACT OMO:0003005 []
synonym: "pericardial tumor" BROAD [DOID:116, NCIT:C4651]
synonym: "pericardial tumour" BROAD OMO:0003005 []
synonym: "pericardium cancer" EXACT [MONDO:patterns/location]
xref: DOID:116 {source="MONDO:equivalentTo"}
xref: ICD10CM:C38.0 {source="DOID:116"}
xref: MEDGEN:87561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4567 {source="DOID:116", source="MONDO:equivalentTo"}
xref: NCIT:C4651 {source="DOID:116"}
xref: SCTID:126734005 {source="DOID:116"}
xref: SCTID:187884007 {source="DOID:116"}
xref: SCTID:93957005 {source="DOID:116"}
xref: SCTID:94997003 {source="DOID:116"}
xref: UMLS:C0346609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87561"}
is_a: MONDO:0000474 {source="DOID:116", source="MONDO:Redundant", source="MONDO:indirect"} ! pericardium disorder
is_a: MONDO:0001340 {source="DOID:116", source="NCIT:C4567"} ! heart cancer
is_a: MONDO:0021381 {source="MONDO:Redundant", source="NCIT:C4567"} ! neoplasm of pericardium
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002407 ! pericardium

[Term]
id: MONDO:0001323
name: infant gynecomastia
def: "Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast engorgement in newborn" EXACT [DOID:11603, ICD9CM:778.7]
synonym: "neonatal gynaecomastia" EXACT [DOID:11603]
xref: DOID:11603 {source="MONDO:equivalentTo"}
xref: ICD10CM:P83.4 {source="DOID:11603", source="MONDO:equivalentTo"}
xref: ICD9:778.7 {source="DOID:11603", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:258541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006177 {source="DOID:11603"}
xref: NCIT:C117312 {source="DOID:11603", source="MONDO:otherHierarchy"}
xref: SCTID:157159001 {source="DOID:11603"}
xref: SCTID:34831003 {source="DOID:11603", source="MONDO:equivalentTo"}
xref: UMLS:C1449721 {source="MEDGEN:258541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001571 {source="https://orcid.org/0000-0001-5208-3432"} ! gynecomastia disorder
is_a: MONDO:0002657 {source="DOID:11603"} ! breast disorder
relationship: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0001324
name: obsolete hyperandrogenism
def: "OBSOLETE. A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction." [MESH:D017588]
synonym: "hyperandrogenization syndrome" EXACT [DOID:11613]
xref: DOID:11613 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D017588 {source="DOID:11613", source="MONDO:obsoleteEquivalent"}
xref: NANDO:2200380 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:237793004 {source="DOID:11613", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5358" xsd:anyURI
is_obsolete: true
consider: HP:0030088

[Term]
id: MONDO:0001325
name: penile cancer
def: "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma." [NCIT:C7547]
subset: disease_grouping
subset: gard_rare {source="GARD:9366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:398043"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ca penis" EXACT [DOID:11615]
synonym: "cancer of penis" EXACT [MONDO:patterns/cancer, Orphanet:398043]
synonym: "malignant neoplasm of body of penis" EXACT [DOID:11615]
synonym: "malignant neoplasm of penis" EXACT [MONDO:patterns/cancer, NCIT:C7547]
synonym: "malignant neoplasm of the penis" EXACT [NCIT:C7547]
synonym: "malignant penile neoplasm" EXACT [NCIT:C7547]
synonym: "malignant penile tumor" EXACT [DOID:11615, NCIT:C7547, Orphanet:398043]
synonym: "malignant penile tumour" EXACT OMO:0003005 []
synonym: "malignant penis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of penis" EXACT [MONDO:0018350, NCIT:C7547]
synonym: "malignant tumor of the penis" EXACT [NCIT:C7547]
synonym: "malignant tumour of penis" EXACT OMO:0003005 []
synonym: "malignant tumour of the penis" EXACT OMO:0003005 []
synonym: "penile Ca" EXACT [DOID:11615]
synonym: "penile cancer" EXACT [Orphanet:398043]
synonym: "penile neoplasm" BROAD [DOID:11615]
synonym: "penis cancer" EXACT [MONDO:patterns/location]
xref: DOID:11615 {source="MONDO:equivalentTo"}
xref: GARD:9366 {source="MONDO:GARD"}
xref: ICD10CM:C60 {source="DOID:11615"}
xref: ICD10CM:C60.0 {source="Orphanet:398043/ntbt", source="Orphanet:398043"}
xref: ICD10CM:C60.1 {source="Orphanet:398043/ntbt", source="Orphanet:398043"}
xref: ICD10CM:C60.2 {source="DOID:11615", source="Orphanet:398043/ntbt", source="Orphanet:398043"}
xref: ICD10CM:C60.8 {source="Orphanet:398043/ntbt", source="Orphanet:398043"}
xref: ICD10CM:C60.9 {source="DOID:11615", source="Orphanet:398043/ntbt", source="Orphanet:398043"}
xref: ICD9:187.3 {source="DOID:11615"}
xref: ICD9:187.4 {source="DOID:11615", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010412 {source="DOID:11615"}
xref: NCIT:C7547 {source="DOID:11615", source="MONDO:equivalentTo"}
xref: Orphanet:398043 {source="MONDO:equivalentTo"}
xref: SCTID:154536009 {source="DOID:11615"}
xref: SCTID:188230001 {source="DOID:11615"}
xref: SCTID:188231002 {source="DOID:11615"}
xref: SCTID:269605006 {source="DOID:11615"}
xref: SCTID:363516004 {source="DOID:11615", source="MONDO:equivalentTo"}
xref: SCTID:93716006 {source="DOID:11615"}
xref: SCTID:93954003 {source="DOID:11615"}
xref: UMLS:C0153601 {source="MEDGEN:102277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="Orphanet:398043"} ! neoplasm
is_a: MONDO:0005836 {source="DOID:11615", source="MONDO:Redundant", source="NCIT:C7547"} ! male reproductive organ cancer
is_a: MONDO:0006895 {source="MONDO:Redundant", source="NCIT:C7547"} ! penile neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000989 ! penis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015931"} ! rare

[Term]
id: MONDO:0001326
name: dental pulp necrosis
def: "Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification." [MESH:D003790]
synonym: "necrosis of pulp" EXACT []
synonym: "necrosis of the pulp" EXACT [DOID:11623, ICD9CM:522.1]
synonym: "necrotic pulp" EXACT [DOID:11623]
synonym: "pulp necrosis" EXACT [DOID:11623]
xref: DOID:11623 {source="MONDO:equivalentTo"}
xref: ICD10CM:K04.1 {source="DOID:11623", source="MONDO:equivalentTo"}
xref: ICD9:522.1 {source="DOID:11623", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:8306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003790 {source="DOID:11623", source="MONDO:equivalentTo"}
xref: SCTID:196332000 {source="DOID:11623"}
xref: SCTID:196334004 {source="DOID:11623"}
xref: SCTID:42711005 {source="DOID:11623", source="MONDO:equivalentTo"}
xref: UMLS:C0011407 {source="MONDO:equivalentTo", source="MEDGEN:8306", source="MONDO:MEDGEN"}
is_a: MONDO:0003394 {source="DOID:11623", source="MESH:D003790"} ! dental pulp disorder

[Term]
id: MONDO:0001327
name: pelvic muscle wasting
xref: DOID:11629 {source="MONDO:equivalentTo"}
xref: ICD10CM:N81.84 {source="MONDO:equivalentTo", source="DOID:11629"}
xref: ICD9:618.83 {source="DOID:11629"}
xref: MEDGEN:1843467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1456255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843467"}
is_a: MONDO:0001592 {source="DOID:11629", source="ICD10CM:N81.84", source="ICD10CM:N81.84/inferred"} ! prolapse of female genital organ

[Term]
id: MONDO:0001328
name: thyroid hormone resistance syndrome
def: "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." [MESH:D018382-modified]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "generalised thyroid hormone resistance" EXACT OMO:0003005 []
synonym: "generalized thyroid hormone resistance" EXACT [DOID:11633]
synonym: "Refetoff syndrome" RELATED EXCLUDE [DOID:11633]
synonym: "resistance to thyroid stimulating hormone" RELATED []
synonym: "resistance to thyrotropin" RELATED []
synonym: "RTH" RELATED ABBREVIATION [doi:10.1210/jcem.84.2.5534]
synonym: "thyroid hormone resistance" EXACT [DOID:11633]
synonym: "thyroid hormone resistance syndrome" EXACT []
synonym: "thyroid hormone responsiveness defect" EXACT [DOID:11633]
synonym: "TSH resistance" RELATED []
xref: DOID:11633 {source="MONDO:equivalentTo"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:424854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018382 {source="DOID:11633", source="MONDO:equivalentTo"}
xref: NANDO:1200395 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100121 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200341 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85191 {source="DOID:11633"}
xref: SCTID:111567006 {source="DOID:11633", source="MONDO:equivalentTo"}
xref: SCTID:237559000 {source="DOID:11633"}
xref: SCTID:237560005 {source="DOID:11633"}
xref: SCTID:50375007 {source="DOID:11633"}
xref: UMLS:C2940786 {source="MONDO:equivalentTo", source="MEDGEN:424854", source="MONDO:MEDGEN"}
is_a: MONDO:0045046 ! inherited thyroid metabolism disease
relationship: disease_has_basis_in_disruption_of GO:0004879 ! nuclear receptor activity
relationship: disease_has_feature MONDO:0005333 {source="MESH:D018382"} ! hyperthyroxinemia
relationship: disease_has_location UBERON:0002046 ! thyroid gland
relationship: disease_has_major_feature HP:0031097 ! Abnormal thyroid-stimulating hormone level
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0005420 {source="DOID:11633", source="https://orcid.org/0000-0001-5208-3432"} ! hypothyroidism

[Term]
id: MONDO:0001329
name: accommodative spasm
synonym: "spasm of accommodation" EXACT [DOID:11637, ICD9CM:367.53]
xref: DOID:11637 {source="MONDO:equivalentTo"}
xref: ICD10CM:H52.53 {source="DOID:11637"}
xref: ICD9:367.53 {source="DOID:11637", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:30069002 {source="DOID:11637", source="MONDO:equivalentTo"}
xref: UMLS:C0152196 {source="MEDGEN:508923", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000926 {source="DOID:11637"} ! eye accommodation disease

[Term]
id: MONDO:0001330
name: presbyopia
def: "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." [MESH:D011305]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11638 {source="MONDO:equivalentTo"}
xref: ICD10CM:H52.4 {source="MONDO:equivalentTo", source="DOID:11638"}
xref: ICD9:367.4 {source="MONDO:equivalentTo", source="DOID:11638", source="MONDO:i2s"}
xref: MEDGEN:10912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011305 {source="MONDO:equivalentTo", source="DOID:11638"}
xref: SCTID:155135005 {source="DOID:11638"}
xref: SCTID:41256004 {source="MONDO:equivalentTo", source="DOID:11638"}
xref: UMLS:C0033075 {source="MEDGEN:10912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000926 {source="DOID:11638"} ! eye accommodation disease
is_a: MONDO:0004892 {source="DOID:11638", source="MESH:D011305"} ! refractive error

[Term]
id: MONDO:0001331
name: conjunctival deposit
xref: DOID:11653 {source="MONDO:equivalentTo"}
xref: ICD10CM:H11.11 {source="DOID:11653"}
xref: ICD9:372.56 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11653"}
xref: MEDGEN:511536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:62660000 {source="MONDO:equivalentTo", source="DOID:11653"}
xref: UMLS:C0162280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:511536"}
is_a: MONDO:0006170 {source="DOID:11653"} ! conjunctival disorder

[Term]
id: MONDO:0001332
name: palindromic rheumatism
def: "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms." [DOID:1166, http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm, http://en.wikipedia.org/wiki/Palindromic_rheumatism, http://www.palindromicrheumatism.org/]
subset: otar {source="MONDO:OTAR"}
synonym: "Hench's syndrome" EXACT [DOID:1166]
synonym: "Hench-Rosenberg syndrome" EXACT [DOID:1166]
xref: DOID:1166 {source="MONDO:equivalentTo"}
xref: ICD10CM:M12.3 {source="DOID:1166", source="MONDO:equivalentTo"}
xref: ICD10CM:M12.30 {source="DOID:1166"}
xref: ICD9:719.3 {source="DOID:1166"}
xref: ICD9:719.30 {source="DOID:1166", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:719.31 {source="DOID:1166"}
xref: ICD9:719.32 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:719.33 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:719.36 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:719.38 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538103 {source="DOID:1166", source="MONDO:equivalentTo"}
xref: SCTID:202455001 {source="DOID:1166"}
xref: SCTID:202456000 {source="DOID:1166"}
xref: SCTID:202457009 {source="DOID:1166"}
xref: SCTID:202466008 {source="DOID:1166"}
xref: SCTID:50442003 {source="DOID:1166", source="MONDO:equivalentTo"}
xref: UMLS:C0085574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39080"}
is_a: MONDO:0002254 {source="DOID:1166"} ! syndromic disease
is_a: MONDO:0003366 ! hydrarthrosis
is_a: MONDO:0005554 {source="MESH:C538103/inferred"} ! rheumatic disorder
relationship: disease_has_feature HP:0001369 ! Arthritis

[Term]
id: MONDO:0001333
name: obsolete Patau syndrome
is_obsolete: true
replaced_by: MONDO:0018068

[Term]
id: MONDO:0001334
name: hypertrichosis of eyelid
def: "A hypertrichosis (disease) that involves the eyelid." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "eyelid hypertrichosis (disease)" EXACT [MONDO:patterns/location]
synonym: "hypertrichosis (disease) of eyelid" EXACT []
xref: DOID:11669 {source="MONDO:equivalentTo"}
xref: ICD10CM:H02.86 {source="DOID:11669"}
xref: ICD9:374.54 {source="DOID:11669", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:79830009 {source="DOID:11669", source="MONDO:equivalentTo"}
xref: UMLS:C0155213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509853"}
is_a: MONDO:0019280 {source="DOID:11669", source="MONDO:Redundant"} ! hypertrichosis
intersection_of: MONDO:0019280 ! hypertrichosis
intersection_of: disease_has_location UBERON:0001711 ! eyelid
relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11669", source="https://orcid.org/0000-0001-5208-3432"} ! eyelid degenerative disorder

[Term]
id: MONDO:0001335
name: hypotrichosis of eyelid
def: "A hypotrichosis that involves the eyelid." [MONDO:patterns/location]
synonym: "eyelid hypotrichosis" EXACT [MONDO:patterns/location]
xref: DOID:11671 {source="MONDO:equivalentTo"}
xref: ICD10CM:H02.72 {source="DOID:11671"}
xref: ICD9:374.55 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11671"}
xref: MEDGEN:509854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193959007 {source="DOID:11671"}
xref: SCTID:70738004 {source="MONDO:equivalentTo", source="DOID:11671"}
xref: UMLS:C0155214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509854"}
is_a: MONDO:0003037 {source="DOID:11671", source="MONDO:Redundant"} ! hypotrichosis
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: disease_has_location UBERON:0001711 ! eyelid
relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11671", source="https://orcid.org/0000-0001-5208-3432"} ! eyelid degenerative disorder

[Term]
id: MONDO:0001336
name: familial hyperlipidemia
def: "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hyperlipemia" RELATED []
synonym: "familial hyperlipoproteinemia" RELATED [DOID:1168]
synonym: "hereditary hyperlipidemia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "hyperlipemia" BROAD [DOID:1168]
synonym: "hyperlipidaemia" BROAD [DOID:1168]
xref: DOID:1168 {source="MONDO:equivalentTo"}
xref: ICD10CM:E78.5 {source="MONDO:relatedTo", source="DOID:1168"}
xref: MEDGEN:675194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006949 {source="MONDO:relatedTo", source="DOID:1168"}
xref: MESH:D006951 {source="DOID:1168"}
xref: NANDO:2200603 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34707 {source="DOID:1168", source="MONDO:otherHierarchy"}
xref: NCIT:C34709 {source="MONDO:relatedTo", source="DOID:1168"}
xref: SCTID:154739000 {source="DOID:1168"}
xref: SCTID:154743001 {source="DOID:1168"}
xref: SCTID:190782002 {source="DOID:1168"}
xref: SCTID:267499005 {source="DOID:1168"}
xref: SCTID:3744001 {source="DOID:1168"}
xref: SCTID:55822004 {source="MONDO:relatedTo", source="DOID:1168"}
xref: UMLS:C0700623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:675194"}
is_a: MONDO:0002525 {source="DOID:1168", source="MONDO:Redundant"} ! inherited lipid metabolism disorder
intersection_of: MONDO:0021187 ! hyperlipidemia
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0001337
name: inflamed seborrheic keratosis
xref: DOID:11685 {source="MONDO:equivalentTo"}
xref: ICD10CM:L82.0 {source="MONDO:equivalentTo", source="DOID:11685"}
xref: ICD9:702.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11685"}
xref: MEDGEN:580965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:442348004 {source="MONDO:equivalentTo", source="DOID:11685"}
xref: UMLS:C0376117 {source="MEDGEN:580965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008420 {source="DOID:11685", source="ICD10CM:L82.0"} ! seborrheic keratosis

[Term]
id: MONDO:0001338
name: acute apical periodontitis
synonym: "acute apical periodontitis of pulpal origin" EXACT [DOID:11693, ICD9CM:522.4]
xref: DOID:11693 {source="MONDO:equivalentTo"}
xref: ICD10CM:K04.4 {source="MONDO:equivalentTo", source="DOID:11693"}
xref: ICD9:522.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11693"}
xref: MEDGEN:901807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:109605000 {source="DOID:11693"}
xref: SCTID:196338001 {source="DOID:11693"}
xref: SCTID:718053009 {source="MONDO:equivalentTo"}
xref: SCTID:88071000 {source="DOID:11693"}
xref: UMLS:C4084770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901807"}
is_a: MONDO:0004508 {source="DOID:11693"} ! periapical periodontitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001339
name: portal vein thrombosis
def: "The formation of a blood clot (thrombus) in the portal vein." [NCIT:P378]
synonym: "portal vein thrombotic disease" EXACT [MONDO:patterns/location]
synonym: "thrombotic disease of portal vein" EXACT [MONDO:design_pattern]
xref: DOID:11695 {source="MONDO:equivalentTo"}
xref: ICD10CM:I81 {source="MONDO:equivalentTo", source="DOID:11695"}
xref: ICD9:452 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11695"}
xref: MEDGEN:56372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78565 {source="MONDO:equivalentTo", source="DOID:11695"}
xref: SCTID:155455003 {source="DOID:11695"}
xref: SCTID:17920008 {source="MONDO:equivalentTo", source="DOID:11695"}
xref: UMLS:C0155773 {source="MONDO:equivalentTo", source="MEDGEN:56372", source="MONDO:MEDGEN"}
is_a: MONDO:0000831 {source="DOID:11695", source="MONDO:Redundant", source="NCIT:C78565/inferred"} ! thrombotic disease
is_a: MONDO:0002405 {source="DOID:11695"} ! hepatic vascular disorder
is_a: MONDO:0004634 {source="DOID:11695", source="MONDO:Redundant"} ! vein disorder
intersection_of: MONDO:0000831 ! thrombotic disease
intersection_of: disease_has_location UBERON:0002017 ! portal vein

[Term]
id: MONDO:0001340
name: heart cancer
def: "A malignant neoplasm involving the heart" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of heart" EXACT [MONDO:patterns/cancer]
synonym: "Cardiac neoplasm, malignant" EXACT [NCIT:C3548]
synonym: "Cardiac tumor" BROAD [DOID:117, NCIT:C3081]
synonym: "Cardiac tumour" BROAD OMO:0003005 []
synonym: "heart cancer" EXACT [MONDO:patterns/location, NCIT:C3548]
synonym: "malignant Cardiac neoplasm" EXACT [NCIT:C3548]
synonym: "malignant Cardiac tumor" EXACT [DOID:117, NCIT:C3548]
synonym: "malignant Cardiac tumour" EXACT OMO:0003005 []
synonym: "malignant heart neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3548]
synonym: "malignant heart tumor" EXACT [NCIT:C3548]
synonym: "malignant heart tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of heart" EXACT [DOID:117, MONDO:patterns/cancer, NCIT:C3548]
synonym: "malignant neoplasm of the heart" EXACT [NCIT:C3548]
synonym: "malignant tumor of heart" EXACT [NCIT:C3548]
synonym: "malignant tumor of the heart" EXACT [NCIT:C3548]
synonym: "malignant tumour of heart" EXACT OMO:0003005 []
synonym: "malignant tumour of the heart" EXACT OMO:0003005 []
synonym: "tumor of heart" BROAD [DOID:117]
synonym: "tumour of heart" BROAD OMO:0003005 []
xref: DOID:117 {source="MONDO:equivalentTo"}
xref: ICD10CM:C38.0 {source="DOID:117"}
xref: ICD9:164.1 {source="DOID:117"}
xref: MEDGEN:57787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006338 {source="DOID:117", source="MONDO:equivalentTo"}
xref: NCIT:C3081 {source="DOID:117"}
xref: NCIT:C3548 {source="DOID:117", source="MONDO:equivalentTo"}
xref: SCTID:126730001 {source="DOID:117"}
xref: SCTID:154555009 {source="DOID:117"}
xref: SCTID:187886009 {source="DOID:117"}
xref: SCTID:269615000 {source="DOID:117"}
xref: SCTID:363435002 {source="DOID:117"}
xref: SCTID:387842002 {source="DOID:117"}
xref: SCTID:93825008 {source="DOID:117"}
xref: UMLS:C0153500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57787"}
is_a: MONDO:0002100 {source="DOID:117", source="MONDO:Redundant", source="NCIT:C3548"} ! cardiovascular cancer
is_a: MONDO:0005267 {source="DOID:117", source="MESH:D006338", source="MONDO:Redundant", source="NCIT:C3548/inferred"} ! heart disorder
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C3548"} ! heart neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0001341
name: selective IgA deficiency disease
def: "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders." [NCIT:C26964]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiencies, IgA" RELATED [MESH:D017098]
synonym: "deficiency, IgA" RELATED [MESH:D017098]
synonym: "gamma-A-globulin deficiency" EXACT [DOID:0060025]
synonym: "IgA deficiencies" RELATED [MESH:D017098]
synonym: "IgA deficiency" EXACT [DOID:0060025]
synonym: "immunoglobulin A deficiency" EXACT [MONDO:0000048]
synonym: "immunoglobulin alpha deficiency" RELATED [DOID:0060025]
synonym: "selective IgA immunodeficiency" EXACT [DOID:11701, ICD9CM:279.01, NCIT:C26964]
synonym: "selective immunoglobulin A deficiency" EXACT [DOID:11701, Orphanet:69127]
synonym: "SIgAD" EXACT [Orphanet:69127]
xref: DOID:0060025 {source="MONDO:equivalentTo"}
xref: DOID:11701 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:1001929 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:883982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017098 {source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo"}
xref: NANDO:1200347 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200720 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26964 {source="MONDO:equivalentTo"}
xref: Orphanet:69127 {source="MONDO:equivalentObsolete", source="DOID:0060025"}
xref: SCTID:29260007 {source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo"}
xref: UMLS:C4049006 {source="MEDGEN:883982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001342 {source="DOID:11701", source="MESH:D017098"} ! dysgammaglobulinemia
is_a: MONDO:0003739 {source="DOID:11701/inferred", source="NCIT:C26964"} ! selective immunoglobulin deficiency disease
relationship: excluded_subClassOf MONDO:0002211 {source="DOID:0060025", source="https://orcid.org/0000-0001-5208-3432"} ! B cell deficiency

[Term]
id: MONDO:0001342
name: dysgammaglobulinemia
def: "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins." [MESH:D004406]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysgammaglobulinemia" EXACT [MONDO:ambiguous]
synonym: "dysgammaglobulinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "dysgammaglobulinemia (finding)" EXACT [DOID:11702]
xref: DOID:11702 {source="MONDO:equivalentTo"}
xref: HP:0002961 {source="MONDO:otherHierarchy"}
xref: MEDGEN:41679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004406 {source="DOID:11702", source="MONDO:equivalentTo"}
xref: SCTID:123782009 {source="DOID:11702", source="MONDO:equivalentTo"}
xref: SCTID:127389001 {source="DOID:11702"}
xref: UMLS:C0013374 {source="MEDGEN:41679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003739 {source="DOID:11702"} ! selective immunoglobulin deficiency disease
property_value: IAO:0000589 "dysgammaglobulinemia (disease)" xsd:string

[Term]
id: MONDO:0001343
name: impaired renal function disease
def: "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of kidney" BROAD [MONDO:patterns/disease_by_dysfunctional_structure]
synonym: "kidney disease" BROAD []
xref: DOID:11705 {source="MONDO:equivalentObsolete"}
xref: ICD10CM:N25 {source="MONDO:equivalentTo"}
xref: ICD9:588.8 {source="DOID:11705"}
xref: ICD9:588.89 {source="DOID:11705"}
xref: ICD9:588.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:574572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197663003 {source="MONDO:equivalentTo"}
xref: UMLS:C0341677 {source="MEDGEN:574572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:11705"} ! kidney disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0002113 ! kidney

[Term]
id: MONDO:0001344
name: obsolete neonatal diabetes mellitus
is_obsolete: true
replaced_by: MONDO:0016391

[Term]
id: MONDO:0001345
name: antidepressant type abuse
def: "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." [DOID:11718, http://en.wikipedia.org/wiki/Antidepressant]
xref: DOID:11718 {source="MONDO:equivalentTo"}
xref: ICD9:305.8 {source="DOID:11718"}
xref: MEDGEN:572698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0338677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:572698"}
is_a: MONDO:0002491 {source="DOID:11718"} ! substance abuse

[Term]
id: MONDO:0001346
name: obsolete distal muscular dystrophy
is_obsolete: true
replaced_by: MONDO:0018949

[Term]
id: MONDO:0001347
name: facioscapulohumeral muscular dystrophy
def: "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." [NCIT:P378]
subset: gard_rare {source="GARD:9941", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1116"}
subset: ordo_disorder {source="Orphanet:269"}
subset: orphanet_rare {source="Orphanet:269"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facioscapulohumeral dystrophy" EXACT [MONDO:0017099]
synonym: "facioscapulohumeral muscular dystrophy" EXACT [Orphanet:269]
synonym: "facioscapulohumeral myopathy" EXACT [Orphanet:269]
synonym: "FSH dystrophy" EXACT [Orphanet:269]
synonym: "FSHD" EXACT ABBREVIATION [Orphanet:269]
synonym: "Landouzy Dejerine muscular dystrophy" EXACT [DOID:11727]
synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [DOID:11727]
synonym: "Landouzy-Dejerine myopathy" EXACT [Orphanet:269]
synonym: "muscular dystrophy, Landouzy-Dejerine" EXACT [DOID:11727]
xref: DOID:11727 {source="MONDO:equivalentTo"}
xref: GARD:9941 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:269", source="Orphanet:269/ntbt", source="DOID:11727", source="Orphanet:269/inclusion"}
xref: icd11.foundation:621965073 {source="Orphanet:269", source="MONDO:equivalentTo"}
xref: MedDRA:10064087 {source="Orphanet:269", source="Orphanet:269/e"}
xref: MEDGEN:65956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020391 {source="DOID:11727", source="MONDO:equivalentTo"}
xref: NANDO:1200491 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200859 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84704 {source="DOID:11727", source="MONDO:equivalentTo"}
xref: NORD:1116 {source="MONDO:NORD"}
xref: OMIMPS:158900 {source="MONDO:equivalentTo"}
xref: Orphanet:269 {source="MONDO:equivalentTo"}
xref: SCTID:399091004 {source="DOID:11727", source="MONDO:equivalentTo"}
xref: SCTID:56096001 {source="DOID:11727"}
xref: UMLS:C0238288 {source="MEDGEN:65956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016106 {source="Orphanet:269"} ! progressive muscular dystrophy
is_a: MONDO:0020121 {source="DOID:11727", source="MESH:D020391", source="NCIT:C84704", source="Orphanet:269/inferred"} ! muscular dystrophy
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:158900"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0001348
name: obsolete Lyme disease
is_obsolete: true
replaced_by: MONDO:0019632

[Term]
id: MONDO:0001349
name: odontoclasia
xref: DOID:11736 {source="MONDO:equivalentTo"}
xref: ICD9:521.05 {source="DOID:11736", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:574111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196305005 {source="DOID:11736", source="MONDO:equivalentTo"}
xref: UMLS:C0341004 {source="MEDGEN:574111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005276 {source="DOID:11736", source="ICD10CM:K02.4"} ! dental caries

[Term]
id: MONDO:0001350
name: parametrium malignant neoplasm
def: "A malignant neoplasm involving the parametrium." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of parametrium" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of parametrium" EXACT [MONDO:patterns/cancer]
synonym: "malignant parametrium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "parametrium cancer" EXACT [MONDO:patterns/location]
xref: DOID:11746 {source="MONDO:equivalentTo"}
xref: ICD10CM:C57.3 {source="DOID:11746"}
xref: ICD9:183.4 {source="DOID:11746", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188203006 {source="DOID:11746"}
xref: SCTID:448674007 {source="DOID:11746", source="MONDO:equivalentTo"}
xref: SCTID:93942003 {source="DOID:11746"}
xref: UMLS:C0153581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509332"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0010391 ! parametrium

[Term]
id: MONDO:0001351
name: uterine adnexa cancer
comment: Editor note: TODO add uberon class
xref: DOID:11747 {source="MONDO:equivalentTo"}
xref: ICD10CM:C57.4 {source="DOID:11747"}
xref: ICD9:183 {source="DOID:11747"}
xref: ICD9:183.9 {source="DOID:11747"}
xref: MEDGEN:509333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154527005 {source="DOID:11747"}
xref: SCTID:188201008 {source="DOID:11747"}
xref: SCTID:188206003 {source="DOID:11747"}
xref: SCTID:190123001 {source="DOID:11747"}
xref: SCTID:269601002 {source="DOID:11747"}
xref: SCTID:428322007 {source="DOID:11747"}
xref: SCTID:94126000 {source="DOID:11747"}
xref: UMLS:C0153584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509333"}
is_a: MONDO:0002715 {source="DOID:11747"} ! uterine cancer

[Term]
id: MONDO:0001352
name: round ligament malignant neoplasm
def: "A malignant neoplasm involving the round ligament of uterus." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of round ligament of uterus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of round ligament" EXACT [DOID:11748]
synonym: "malignant neoplasm of round ligament of uterus" EXACT [DOID:11748, ICD9CM:183.5, MONDO:patterns/cancer]
synonym: "malignant round ligament of uterus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "round ligament of uterus cancer" EXACT [MONDO:patterns/location]
xref: DOID:11748 {source="MONDO:equivalentTo"}
xref: ICD10CM:C57.2 {source="DOID:11748"}
xref: ICD9:183.5 {source="MONDO:equivalentTo", source="DOID:11748", source="MONDO:i2s"}
xref: MEDGEN:577692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188204000 {source="MONDO:equivalentTo", source="DOID:11748"}
xref: SCTID:93994001 {source="DOID:11748"}
xref: UMLS:C0346867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:577692"}
is_a: MONDO:0001351 {source="DOID:11748"} ! uterine adnexa cancer
is_a: MONDO:0002087 {source="DOID:11748"} ! peritoneum cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0006589 ! round ligament of uterus

[Term]
id: MONDO:0001353
name: Bordetella parapertussis infectious disease
def: "Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough." [PMID:9542925]
synonym: "Bordetella parapertussis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bordetella parapertussis disease or disorder" EXACT []
synonym: "Bordetella parapertussis infection" RELATED []
synonym: "Bordetella parapertussis whooping cough" RELATED [DOID:11750]
synonym: "infection caused by Bordetella parapertussis" RELATED []
synonym: "infection due to Bordetella parapertussis" EXACT []
xref: DOID:11750 {source="MONDO:equivalentTo"}
xref: ICD10CM:A37.1 {source="MONDO:equivalentTo", source="DOID:11750"}
xref: ICD9:033.1 {source="DOID:11750"}
xref: MEDGEN:546794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:77116006 {source="MONDO:equivalentTo", source="DOID:11750"}
xref: UMLS:C0275742 {source="MEDGEN:546794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0037872 {source="MONDO:Redundant"} ! bordetellosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:519 ! Bordetella parapertussis
disjoint_from: MONDO:0005077 ! pertussis
relationship: disease_has_feature HP:0031247 {source="DOID:11750"} ! Whooping cough
relationship: excluded_subClassOf MONDO:0005077 {source="DOID:11750", source="https://orcid.org/0000-0001-5208-3432"} ! pertussis
relationship: has_characteristic HP:0012825 {source="DOID:11750"} ! Mild

[Term]
id: MONDO:0001354
name: obsolete acute endophthalmitis
is_obsolete: true
replaced_by: MONDO:0017202

[Term]
id: MONDO:0001355
name: ocular siderosis
def: "A hemosiderosis that involves the camera-type eye." [MONDO:patterns/location]
synonym: "camera-type eye hemosiderosis" EXACT [MONDO:patterns/location]
synonym: "hemosiderosis of camera-type eye" EXACT [MONDO:design_pattern]
synonym: "siderosis bulbi" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "siderosis of eye" EXACT [DOID:11754]
synonym: "siderosis of globe" EXACT [DOID:11754, ICD9CM:360.23]
xref: DOID:11754 {source="MONDO:equivalentTo"}
xref: ICD10CM:H44.32 {source="DOID:11754"}
xref: ICD9:360.23 {source="DOID:11754", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:25277000 {source="DOID:11754", source="MONDO:equivalentTo"}
xref: UMLS:C0271001 {source="MEDGEN:543098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:11754/inferred", source="MONDO:Entailed"} ! eye disorder
intersection_of: MONDO:0001436 ! hemosiderosis
intersection_of: disease_has_location UBERON:0000019 ! camera-type eye

[Term]
id: MONDO:0001356
name: iron deficiency anemia
def: "Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss." [NCIT:C84484]
synonym: "iron-deficiency anaemia" EXACT OMO:0003005 []
synonym: "iron-deficiency anemia" EXACT [NCIT:C84484]
xref: DOID:11758 {source="MONDO:equivalentTo"}
xref: ICD9:280.8 {source="MONDO:relatedTo", source="DOID:11758", source="MONDO:i2s"}
xref: ICD9:280.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018798 {source="MONDO:equivalentTo"}
xref: NCIT:C84484 {source="MONDO:equivalentTo"}
xref: SCTID:191129007 {source="DOID:11758"}
xref: SCTID:191131003 {source="DOID:11758"}
xref: SCTID:267514001 {source="DOID:11758"}
xref: SCTID:87522002 {source="MONDO:equivalentTo"}
xref: UMLS:C0162316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57668"}
is_a: MONDO:0001245 {source="DOID:11758"} ! microcytic anemia
is_a: MONDO:0001357 {source="NCIT:C84484"} ! hypochromic anemia
is_a: MONDO:0006873 {source="DOID:11758"} ! nutritional deficiency disease
intersection_of: MONDO:0002280 ! anemia
intersection_of: disease_disrupts GO:0006879 ! intracellular iron ion homeostasis

[Term]
id: MONDO:0001357
name: hypochromic anemia
def: "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency." [NCIT:C34380]
subset: otar {source="MONDO:OTAR"}
synonym: "anaemia hypochromic" EXACT OMO:0003005 []
synonym: "anemia hypochromic" EXACT [DOID:11759, MTH:NOCODE]
synonym: "hypochromic anaemia (disease)" EXACT OMO:0003005 []
synonym: "hypochromic anemia" EXACT [MONDO:ambiguous, NCIT:C34380]
synonym: "hypochromic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11759 {source="MONDO:equivalentTo"}
xref: HP:0001931 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D50 {source="DOID:11759"}
xref: MEDGEN:8065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000747 {source="DOID:11759"}
xref: NCIT:C34380 {source="MONDO:equivalentTo", source="DOID:11759"}
xref: SCTID:44452003 {source="MONDO:equivalentTo", source="DOID:11759"}
xref: UMLS:C0002884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8065"}
is_a: MONDO:0002280 {source="DOID:11759", source="NCIT:C34380"} ! anemia
intersection_of: MONDO:0002280 ! anemia
intersection_of: disease_has_feature HP:0001931 ! Hypochromic anemia
property_value: IAO:0000589 "hypochromic anemia (disease)" xsd:string

[Term]
id: MONDO:0001358
name: bronchial disorder
def: "A disease involving the bronchus." [MONDO:patterns/location_top]
subset: otar {source="MONDO:OTAR"}
synonym: "bronchial disorder" EXACT []
synonym: "bronchospasm" EXACT [DOID:1176, NCIT:C34439]
synonym: "bronchus disease" EXACT [MONDO:patterns/location]
synonym: "bronchus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of bronchus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bronchus" EXACT []
synonym: "disorder of bronchus" EXACT [MONDO:patterns/location_top]
xref: DOID:1176 {source="MONDO:equivalentTo"}
xref: EFO:1002018 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:519.19
xref: MEDGEN:14233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001982 {source="DOID:1176", source="MONDO:equivalentTo"}
xref: NCIT:C34439 {source="MONDO:equivalentTo"}
xref: SCTID:41427001 {source="DOID:1176", source="MONDO:equivalentTo"}
xref: UMLS:C0006261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14233"}
is_a: MONDO:0000270 {source="DOID:1176", source="MONDO:Redundant"} ! lower respiratory tract disorder
is_a: MONDO:0005087 {source="DOID:1176/inferred", source="EFO:1002018", source="MESH:D001982", source="NCIT:C34439/inferred"} ! respiratory system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002185 ! bronchus

[Term]
id: MONDO:0001359
name: obsolete Kohler disease
is_obsolete: true
replaced_by: MONDO:0016086

[Term]
id: MONDO:0001360
name: blind hypotensive eye
xref: DOID:11766 {source="MONDO:equivalentTo"}
xref: ICD9:360.41 {source="DOID:11766", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193291000 {source="DOID:11766"}
xref: SCTID:23360000 {source="DOID:11766", source="MONDO:equivalentTo"}
xref: SCTID:4229009 {source="DOID:11766"}
xref: UMLS:C0154788 {source="MEDGEN:509659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004390 {source="DOID:11766"} ! ocular hypotension

[Term]
id: MONDO:0001361
name: spontaneous ocular nystagmus
def: "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" [MESH:D009759]
synonym: "ocular nystagmus" EXACT [DOID:11771]
synonym: "searching eye movements" EXACT [DOID:11771]
synonym: "visual deprivation nystagmus" EXACT [DOID:11771, ICD9CM:379.53]
xref: DOID:11771 {source="MONDO:equivalentTo"}
xref: ICD10CM:H55.03 {source="MONDO:equivalentTo", source="DOID:11771"}
xref: ICD9:379.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11771"}
xref: MEDGEN:75748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009759 {source="DOID:11771"}
xref: SCTID:246784009 {source="DOID:11771"}
xref: SCTID:39771000 {source="DOID:11771"}
xref: SCTID:45339001 {source="MONDO:equivalentTo", source="DOID:11771"}
xref: UMLS:C0271384 {source="MONDO:equivalentTo", source="MEDGEN:75748", source="MONDO:MEDGEN"}
is_a: MONDO:0004843 {source="DOID:11771"} ! pathologic nystagmus

[Term]
id: MONDO:0001362
name: obsolete leukocoria
def: "OBSOLETE. An abnormal white reflection from the retina of the eye." [Wikipedia:Leukocoria]
comment: Obsoleted as it represents a feature/finding
xref: DOID:11772 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H44.53 {source="DOID:11772"}
xref: ICD9:360.44 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:11772"}
xref: SCTID:1361009 {source="MONDO:obsoleteEquivalent", source="DOID:11772"}
xref: SCTID:193288000 {source="DOID:11772"}
is_obsolete: true
replaced_by: HP:0000555

[Term]
id: MONDO:0001363
name: blind hypertensive eye
xref: DOID:11776 {source="MONDO:equivalentTo"}
xref: ICD9:360.42 {source="DOID:11776", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193286001 {source="DOID:11776"}
xref: SCTID:264008 {source="DOID:11776", source="MONDO:equivalentTo"}
xref: UMLS:C0154789 {source="MEDGEN:509660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004884 {source="DOID:11776"} ! eye degenerative disorder

[Term]
id: MONDO:0001364
name: regular astigmatism
xref: DOID:11781 {source="MONDO:equivalentTo"}
xref: ICD10CM:H52.22 {source="DOID:11781"}
xref: ICD9:367.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11781"}
xref: MEDGEN:508921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:68905002 {source="MONDO:equivalentTo", source="DOID:11781"}
xref: UMLS:C0152193 {source="MEDGEN:508921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011284 {source="DOID:11781"} ! astigmatism

[Term]
id: MONDO:0001365
name: necrosis of ear ossicle
comment: Editor note: TODO consider cede to HPO
synonym: "partial loss or necrosis of ear ossicles" EXACT [DOID:11783]
xref: DOID:11783 {source="MONDO:equivalentTo"}
xref: ICD9:385.24 {source="DOID:11783"}
is_a: MONDO:0002409 {source="DOID:11783"} ! auditory system disorder
relationship: disease_has_location UBERON:0035130 ! auditory ossicle endochondral element

[Term]
id: MONDO:0001366
name: splenic sequestration
comment: Editor note: TODO consider cede to HPO
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:11786 {source="MONDO:equivalentTo"}
xref: ICD9:289.52 {source="DOID:11786"}
xref: MEDGEN:1843463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1260402 {source="MEDGEN:1843463", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002332 {source="DOID:11786"} ! splenic disorder

[Term]
id: MONDO:0001367
name: chronic congestive splenomegaly
def: "Chronic form of congestive splenomegaly." [MONDO:patterns/chronic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congestive splenomegaly, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: DOID:11787 {source="MONDO:equivalentTo"}
xref: ICD10CM:D73.2 {source="DOID:11787", source="MONDO:equivalentTo"}
xref: ICD9:289.51 {source="DOID:11787", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:584995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:191382009 {source="DOID:11787", source="MONDO:equivalentTo"}
xref: UMLS:C0398661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:584995"}
is_a: MONDO:0002332 {source="DOID:11787", source="ICD10CM:D73.2"} ! splenic disorder
intersection_of: MONDO:0037251 ! congestive splenomegaly
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001368
name: phthisical cornea
xref: DOID:11793 {source="MONDO:equivalentTo"}
xref: ICD9:371.05 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11793"}
xref: MEDGEN:509789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193801004 {source="DOID:11793"}
xref: SCTID:28143002 {source="MONDO:equivalentTo", source="DOID:11793"}
xref: UMLS:C0155102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509789"}
is_a: MONDO:0001515 {source="DOID:11793"} ! corneal degeneration

[Term]
id: MONDO:0001369
name: chronic laryngitis
def: "Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "laryngitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:11797 {source="MONDO:equivalentTo"}
xref: ICD10CM:J37.0 {source="DOID:11797", source="MONDO:equivalentTo"}
xref: ICD9:476.0 {source="DOID:11797", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26975 {source="DOID:11797", source="MONDO:equivalentTo"}
xref: SCTID:155535001 {source="DOID:11797"}
xref: SCTID:195815004 {source="DOID:11797"}
xref: SCTID:195816003 {source="DOID:11797"}
xref: SCTID:29951006 {source="DOID:11797", source="MONDO:equivalentTo"}
xref: UMLS:C0155836 {source="MEDGEN:102342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002647 {source="DOID:11797", source="MONDO:Redundant", source="NCIT:C26975"} ! laryngitis
intersection_of: MONDO:0002647 ! laryngitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001370
name: pericardial effusion
def: "Fluid collection within the pericardial sac, usually due to inflammation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fluid, pericardial" EXACT [NCIT:C3319]
synonym: "pericardial effusion" EXACT [MONDO:ambiguous]
synonym: "pericardial effusion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pericardial fluid" EXACT [NCIT:C3319]
xref: DOID:118 {source="MONDO:equivalentTo"}
xref: HP:0001698 {source="MONDO:otherHierarchy"}
xref: MEDGEN:10653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010490 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:118", source="MONDO:equivalentTo"}
xref: NCIT:C3319 {source="DOID:118", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:373945007 {source="DOID:118", source="MONDO:equivalentTo"}
xref: SCTID:70370001 {source="DOID:118"}
xref: UMLS:C0031039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10653"}
is_a: MONDO:0000474 {source="DOID:118"} ! pericardium disorder
property_value: IAO:0000589 "pericardial effusion (disease)" xsd:string

[Term]
id: MONDO:0001371
name: protein-energy malnutrition
def: "A nutritional deficit that is caused by inadequate protein or calorie intake." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Protein energy malnutrition" EXACT [NCIT:C34952]
xref: DOID:11801 {source="MONDO:equivalentTo"}
xref: EFO:0009563 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E46 {source="DOID:11801"}
xref: ICD9:263.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:263.9 {source="DOID:11801", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:269.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011502 {source="DOID:11801", source="MONDO:equivalentTo"}
xref: NCIT:C34952 {source="DOID:11801", source="MONDO:equivalentTo"}
xref: SCTID:190608007 {source="DOID:11801"}
xref: SCTID:238107002 {source="DOID:11801", source="MONDO:equivalentTo"}
xref: SCTID:267411007 {source="DOID:11801"}
xref: SCTID:72608005 {source="DOID:11801"}
xref: UMLS:C0033677 {source="MEDGEN:19521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006873 {source="DOID:11801", source="MESH:D011502/inferred", source="NCIT:C34952"} ! nutritional deficiency disease

[Term]
id: MONDO:0001372
name: bladder neck cancer
def: "A malignant neoplasm involving the neck of urinary bladder." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of neck of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant neck of urinary bladder neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of neck of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of urinary bladder neck" EXACT [DOID:11809]
synonym: "malignant tumor of bladder neck" EXACT [DOID:11809]
synonym: "malignant tumour of bladder neck" EXACT OMO:0003005 []
synonym: "neck of urinary bladder cancer" EXACT [MONDO:patterns/location]
xref: DOID:11809 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67.5 {source="DOID:11809"}
xref: ICD9:188.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11809"}
xref: MEDGEN:509341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188244007 {source="MONDO:equivalentTo", source="DOID:11809"}
xref: SCTID:94124002 {source="DOID:11809"}
xref: UMLS:C0153613 {source="MEDGEN:509341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001187 {source="DOID:11809", source="MONDO:Redundant"} ! urinary bladder cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001258 ! neck of urinary bladder

[Term]
id: MONDO:0001373
name: urinary bladder posterior wall cancer
synonym: "malignant neoplasm of posterior wall of urinary bladder" EXACT [DOID:11811]
xref: DOID:11811 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67.4 {source="DOID:11811"}
xref: ICD9:188.4 {source="DOID:11811", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188243001 {source="DOID:11811", source="MONDO:equivalentTo"}
xref: SCTID:93972009 {source="DOID:11811"}
xref: UMLS:C0153612 {source="MONDO:equivalentTo", source="MEDGEN:509340", source="MONDO:MEDGEN"}
is_a: MONDO:0001187 {source="DOID:11811"} ! urinary bladder cancer

[Term]
id: MONDO:0001374
name: bladder sarcoma
def: "A malignant mesenchymal cell neoplasm that affects the urinary bladder." [NCIT:C4669]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bladder sarcoma" EXACT [NCIT:C4669]
synonym: "sarcoma of bladder" EXACT [NCIT:C4669]
synonym: "sarcoma of the bladder" EXACT [NCIT:C4669]
synonym: "sarcoma of the urinary bladder" EXACT [DOID:11812, NCIT:C4669]
synonym: "sarcoma of urinary bladder" EXACT [MONDO:patterns/sarcoma, NCIT:C4669]
synonym: "urinary bladder sarcoma" EXACT [MONDO:patterns/location, NCIT:C4669]
xref: DOID:11812 {source="MONDO:equivalentTo"}
xref: MEDGEN:87612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4669 {source="DOID:11812", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:278046008 {source="DOID:11812", source="MONDO:equivalentTo"}
xref: UMLS:C0349666 {source="MEDGEN:87612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001187 {source="DOID:11812", source="MONDO:Redundant", source="NCIT:C4669"} ! urinary bladder cancer
is_a: MONDO:0005089 {source="DOID:11812", source="MONDO:Redundant", source="NCIT:C4669/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C4669"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0001375
name: bladder trigone cancer
def: "A malignant neoplasm involving the trigone of urinary bladder." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of trigone of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [DOID:11813, ICD9CM:188.0, MONDO:patterns/cancer]
synonym: "malignant trigone of urinary bladder neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "trigone of urinary bladder cancer" EXACT [MONDO:patterns/location]
xref: DOID:11813 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67.0 {source="DOID:11813"}
xref: ICD9:188.0 {source="DOID:11813", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:635606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188239000 {source="DOID:11813", source="MONDO:equivalentTo"}
xref: SCTID:254931006 {source="DOID:11813"}
xref: SCTID:94109006 {source="DOID:11813"}
xref: UMLS:C0496826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:635606"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001257 ! trigone of urinary bladder

[Term]
id: MONDO:0001376
name: urinary bladder anterior wall cancer
synonym: "malignant neoplasm of anterior wall of urinary bladder" EXACT [DOID:11814]
xref: DOID:11814 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67.3 {source="DOID:11814"}
xref: ICD9:188.3 {source="MONDO:equivalentTo", source="DOID:11814", source="MONDO:i2s"}
xref: MEDGEN:509339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188242006 {source="MONDO:equivalentTo", source="DOID:11814"}
xref: SCTID:93675008 {source="DOID:11814"}
xref: UMLS:C0153611 {source="MEDGEN:509339", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001187 {source="DOID:11814"} ! urinary bladder cancer

[Term]
id: MONDO:0001377
name: vitreous syneresis
comment: Editor note: TODO consider cede to HPO
subset: otar {source="MONDO:OTAR"}
synonym: "vitreous degeneration" EXACT [DOID:11816, ICD9CM:379.21]
xref: DOID:11816 {source="MONDO:equivalentTo"}
xref: ICD10CM:H43.81 {source="DOID:11816"}
xref: ICD9:379.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11816"}
xref: MEDGEN:509938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:247090008 {source="DOID:11816"}
xref: SCTID:60189009 {source="MONDO:equivalentTo", source="DOID:11816"}
xref: UMLS:C0155366 {source="MEDGEN:509938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004860 {source="DOID:11816"} ! vitreous disorder
is_a: MONDO:0004884 {source="DOID:11816"} ! eye degenerative disorder

[Term]
id: MONDO:0001378
name: urachus cancer
def: "A malignant neoplasm involving the urachus." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of urachus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of urachus" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of urachus" EXACT [DOID:11817]
synonym: "malignant tumour of urachus" EXACT OMO:0003005 []
synonym: "malignant urachus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "urachus cancer" EXACT [MONDO:patterns/location]
xref: DOID:11817 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67.7 {source="DOID:11817"}
xref: ICD9:188.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11817"}
xref: MEDGEN:509342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363456000 {source="MONDO:equivalentTo", source="DOID:11817"}
xref: SCTID:94120006 {source="DOID:11817"}
xref: UMLS:C0153615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509342"}
is_a: MONDO:0001187 {source="DOID:11817", source="MONDO:Redundant"} ! urinary bladder cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002068 ! urachus

[Term]
id: MONDO:0001379
name: ureteric orifice cancer
def: "A malignant neoplasm involving the ureteral orifice." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of ureteral orifice" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ureteral orifice" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [DOID:11818]
synonym: "malignant tumor of ureteric orifice" EXACT [DOID:11818]
synonym: "malignant tumour of ureteric orifice" EXACT OMO:0003005 []
synonym: "malignant ureteral orifice neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "orifice of the ureter" EXACT [DOID:11818, NCIT:C12337]
synonym: "ureteral orifice cancer" EXACT [MONDO:patterns/location]
xref: DOID:11818 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67.6 {source="DOID:11818"}
xref: ICD9:188.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11818"}
xref: MEDGEN:102280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12337 {source="MONDO:otherHierarchy", source="DOID:11818"}
xref: SCTID:188245008 {source="MONDO:equivalentTo", source="DOID:11818"}
xref: SCTID:94122003 {source="DOID:11818"}
xref: UMLS:C0153614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102280"}
is_a: MONDO:0008627 {source="DOID:11818"} ! ureter cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0012303 ! ureteral orifice

[Term]
id: MONDO:0001380
name: bladder dome cancer
def: "Cancer of the upper, convex surface of the bladder." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of fundus of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "fundus of urinary bladder cancer" EXACT [MONDO:patterns/location]
synonym: "malignant fundus of urinary bladder neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of apex of urinary bladder" EXACT [DOID:11820]
synonym: "malignant neoplasm of dome of urinary bladder" EXACT [DOID:11820, ICD9CM:188.1]
synonym: "malignant neoplasm of fundus of urinary bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of vault of bladder" EXACT [DOID:11820]
synonym: "malignant tumour of vault of bladder" EXACT OMO:0003005 []
synonym: "superior surface of bladder" EXACT [DOID:11820, NCIT:C12332]
xref: DOID:11820 {source="MONDO:equivalentTo"}
xref: ICD10CM:C67.1 {source="DOID:11820"}
xref: ICD9:188.1 {source="DOID:11820", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:141677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12332 {source="DOID:11820", source="MONDO:otherHierarchy"}
xref: SCTID:188240003 {source="DOID:11820", source="MONDO:equivalentTo"}
xref: SCTID:93678005 {source="DOID:11820"}
xref: UMLS:C0496827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141677"}
is_a: MONDO:0001187 {source="DOID:11820", source="MONDO:Redundant"} ! urinary bladder cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0006082 ! fundus of urinary bladder

[Term]
id: MONDO:0001381
name: bladder lymphoma
def: "A lymphoma that involves the urinary bladder." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoma of bladder" EXACT [NCIT:C6164]
synonym: "lymphoma of the bladder" EXACT [NCIT:C6164]
synonym: "lymphoma of the urinary bladder" EXACT [DOID:11821, NCIT:C6164]
synonym: "lymphoma of urinary bladder" EXACT [NCIT:C6164]
synonym: "primary bladder lymphoma" EXACT [NCIT:C6164]
synonym: "urinary bladder lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:11821 {source="MONDO:equivalentTo"}
xref: MEDGEN:231948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6164 {source="DOID:11821", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332561 {source="MEDGEN:231948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001187 {source="DOID:11821", source="NCIT:C6164"} ! urinary bladder cancer
is_a: MONDO:0005062 {source="DOID:11821", source="MONDO:Redundant", source="NCIT:C6164/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0001382
name: hepatorenal syndrome
def: "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." [https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome]
subset: otar {source="MONDO:OTAR"}
synonym: "hepato-renal syndrome" RELATED [GARD:0006610]
xref: DOID:11823 {source="MONDO:equivalentTo"}
xref: ICD10CM:K76.7 {source="DOID:11823", source="MONDO:equivalentTo"}
xref: ICD9:572.4 {source="DOID:11823", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006530 {source="DOID:11823", source="MONDO:equivalentTo"}
xref: NCIT:C113400 {source="DOID:11823", source="MONDO:equivalentTo"}
xref: SCTID:51292008 {source="DOID:11823", source="MONDO:equivalentTo"}
xref: UMLS:C0019212 {source="MEDGEN:9224", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C113400"} ! syndromic disease
is_a: MONDO:0005154 {source="DOID:11823", source="MESH:D006530"} ! liver disorder
relationship: disease_has_feature MONDO:0001106 ! kidney failure
relationship: excluded_subClassOf MONDO:0002492 {source="DOID:11823", source="https://orcid.org/0000-0001-5208-3432"} ! acute kidney failure
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome" xsd:anyURI {source="GARD:0006610"}

[Term]
id: MONDO:0001383
name: degenerative myopia
def: "Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness." [MESH:D047728]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "degenerative progressive high myopia" EXACT [DOID:11829]
synonym: "pathological myopia" EXACT [DOID:11829]
synonym: "progressive high (degenerative) myopia" EXACT [DOID:11829, ICD9CM:360.21]
synonym: "progressive high myopia" EXACT [DOID:11829]
xref: DOID:11829 {source="MONDO:equivalentTo"}
xref: ICD10CM:H44.2 {source="MONDO:equivalentTo", source="DOID:11829"}
xref: ICD9:360.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11829"}
xref: MEDGEN:57597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D047728 {source="MONDO:equivalentTo", source="DOID:11829"}
xref: SCTID:193276002 {source="DOID:11829"}
xref: SCTID:193278001 {source="DOID:11829"}
xref: SCTID:193625005 {source="DOID:11829"}
xref: SCTID:32022003 {source="MONDO:equivalentTo", source="DOID:11829"}
xref: UMLS:C0154778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57597"}
is_a: MONDO:0001384 {source="DOID:11829", source="MESH:D047728"} ! myopia
is_a: MONDO:0004884 {source="DOID:11829"} ! eye degenerative disorder

[Term]
id: MONDO:0001384
name: myopia
def: "The condition in which the individual does not see far distances clearly." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "myopia" EXACT [MONDO:ambiguous]
synonym: "myopia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "near vision" EXACT [DOID:11830]
synonym: "near-sightedness" EXACT [DOID:11830]
synonym: "short-sightedness" EXACT [DOID:11830]
xref: DOID:11830 {source="MONDO:equivalentTo"}
xref: HP:0000545 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H52.1 {source="DOID:11830", source="MONDO:equivalentTo"}
xref: ICD9:367.1 {source="DOID:11830", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:44558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009216 {source="DOID:11830", source="MONDO:equivalentTo"}
xref: NCIT:C102533 {source="DOID:11830", source="MONDO:otherHierarchy"}
xref: OMIMPS:160700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:155133003 {source="DOID:11830"}
xref: SCTID:57190000 {source="DOID:11830", source="MONDO:equivalentTo"}
xref: UMLS:C0027092 {source="MEDGEN:44558", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004892 {source="DOID:11830", source="MESH:D009216"} ! refractive error
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:160700"} ! inherited
property_value: IAO:0000589 "myopia (disease)" xsd:string

[Term]
id: MONDO:0001385
name: cortical blindness
def: "Visual impairment due to visual cortex dysfunction." [NCIT:P378]
synonym: "cerebral visual impairment" EXACT [https://orcid.org/0000-0002-3458-4839]
synonym: "cortical visual impairment" EXACT [https://orcid.org/0000-0002-3458-4839]
synonym: "cortical/cerebral visual impairment" EXACT [https://orcid.org/0000-0002-3458-4839]
synonym: "CVI" EXACT ABBREVIATION [https://orcid.org/0000-0002-3458-4839]
xref: DOID:11831 {source="MONDO:equivalentTo"}
xref: ICD10CM:H47.61 {source="DOID:11831"}
xref: ICD9:377.75 {source="DOID:11831", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019575 {source="DOID:11831", source="MONDO:equivalentTo"}
xref: NCIT:C118707 {source="DOID:11831", source="MONDO:equivalentTo"}
xref: SCTID:68574006 {source="DOID:11831", source="MONDO:equivalentTo"}
xref: UMLS:C0155320 {source="MEDGEN:57834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001941 {source="MESH:D019575", source="MONDO:Redundant", source="NCIT:C118707"} ! blindness (disorder)
is_a: MONDO:0003584 {source="DOID:11831"} ! visual cortex disorder
intersection_of: MONDO:0001941 ! blindness (disorder)
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0000411 ! visual cortex

[Term]
id: MONDO:0001386
name: visual epilepsy
def: "Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'" [MESH:D012640]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epilepsy, visual" EXACT [DOID:11832]
xref: DOID:11832 {source="MONDO:equivalentTo"}
xref: MEDGEN:75723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012640 {source="DOID:11832", source="MONDO:equivalentTo"}
xref: NCIT:C3980 {source="DOID:11832", source="MONDO:equivalentTo"}
xref: SCTID:39194005 {source="DOID:11832", source="MONDO:equivalentTo"}
xref: UMLS:C0270824 {source="MEDGEN:75723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003584 {source="DOID:11832"} ! visual cortex disorder
is_a: MONDO:0005027 {source="DOID:11832", source="MESH:D012640", source="MONDO:Redundant", source="NCIT:C3980/inferred"} ! epilepsy
is_a: MONDO:0017768 {source="NCIT:C3980"} ! reflex epilepsy

[Term]
id: MONDO:0001387
name: penile sarcoma
def: "A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma." [NCIT:C7730]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "penile sarcoma" EXACT [NCIT:C7730]
synonym: "penis sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of penis" EXACT [DOID:11838, MONDO:patterns/sarcoma, NCIT:C7730]
synonym: "sarcoma of the penis" EXACT [NCIT:C7730]
xref: DOID:11838 {source="MONDO:equivalentTo"}
xref: MEDGEN:65960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7730 {source="MONDO:equivalentTo", source="DOID:11838"}
xref: UMLS:C0238352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65960"}
is_a: MONDO:0001325 {source="DOID:11838", source="MONDO:Redundant", source="NCIT:C7730"} ! penile cancer
is_a: MONDO:0005089 {source="DOID:11838", source="MONDO:Entailed", source="NCIT:C7730/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C7730"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0001388
name: glans penis cancer
def: "A malignant neoplasm involving the glans penis." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of glans penis" EXACT [MONDO:patterns/cancer]
synonym: "glans penis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant glans penis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of glans penis" EXACT [DOID:11839, ICD9CM:187.2, MONDO:patterns/cancer]
synonym: "malignant tumor of glans penis" EXACT [DOID:11839]
synonym: "malignant tumour of glans penis" EXACT OMO:0003005 []
xref: DOID:11839 {source="MONDO:equivalentTo"}
xref: ICD10CM:C60.1 {source="DOID:11839"}
xref: ICD9:187.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11839"}
xref: MEDGEN:509337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363451005 {source="MONDO:equivalentTo", source="DOID:11839"}
xref: SCTID:93813005 {source="DOID:11839"}
xref: UMLS:C0153599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509337"}
is_a: MONDO:0001325 {source="DOID:11839", source="MONDO:Redundant"} ! penile cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001299 ! glans penis

[Term]
id: MONDO:0001389
name: congenital coronary artery anomaly
synonym: "congenital anomaly of coronary artery" EXACT [DOID:11843]
synonym: "coronary artery abnormality" EXACT [DOID:11843]
synonym: "coronary artery abnormality [ambiguous]" EXACT [DOID:11843]
synonym: "coronary artery anomaly" EXACT [DOID:11843]
synonym: "coronary artery anomaly, congenital" EXACT [DOID:11843, ICD9CM:746.85]
xref: DOID:11843 {source="MONDO:equivalentTo"}
xref: ICD9:746.85 {source="DOID:11843", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:204373000 {source="DOID:11843"}
xref: SCTID:204380003 {source="DOID:11843"}
xref: SCTID:28574005 {source="DOID:11843", source="MONDO:equivalentTo"}
xref: SCTID:361215006 {source="DOID:11843"}
xref: UMLS:C0158623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510602"}
is_a: MONDO:0005010 {source="DOID:11843"} ! coronary artery disorder
is_a: MONDO:0005453 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital heart disease

[Term]
id: MONDO:0001390
name: transient refractive change
xref: DOID:11850 {source="MONDO:equivalentTo"}
xref: ICD9:367.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11850"}
xref: MEDGEN:509757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:81519008 {source="MONDO:equivalentTo", source="DOID:11850"}
xref: UMLS:C0155000 {source="MEDGEN:509757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004892 {source="DOID:11850"} ! refractive error
relationship: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0001391
name: indeterminate leprosy
def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." [DOID:11851, http://emedicine.medscape.com/article/1104977-clinical#a0217]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "indeterminate leprosy [group I]" EXACT [DOID:11851, ICD9CM:030.2]
synonym: "uncharacteristic leprosy" EXACT [DOID:11851]
xref: DOID:11851 {source="MONDO:equivalentTo"}
xref: ICD10CM:A30.0 {source="MONDO:equivalentTo", source="DOID:11851"}
xref: ICD9:030.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11851"}
xref: MEDGEN:507841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14386001 {source="MONDO:equivalentTo", source="DOID:11851"}
xref: UMLS:C0021192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507841"}
is_a: MONDO:0005124 {source="DOID:11851", source="ICD10CM:A30.0"} ! leprosy

[Term]
id: MONDO:0001392
name: monocular exotropia
xref: DOID:11853 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.11 {source="DOID:11853"}
xref: ICD9:378.11 {source="DOID:11853", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005099 {source="DOID:11853"}
xref: SCTID:194087008 {source="DOID:11853"}
xref: SCTID:5725006 {source="DOID:11853", source="MONDO:equivalentTo"}
xref: UMLS:C0152206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57752"}
is_a: MONDO:0001286 {source="DOID:11853"} ! exotropia

[Term]
id: MONDO:0001393
name: peripheral focal chorioretinitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:11864 {source="MONDO:equivalentTo"}
xref: ICD9:363.04 {source="DOID:11864", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:573121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:56787009 {source="DOID:11864", source="MONDO:equivalentTo"}
xref: UMLS:C0339394 {source="MEDGEN:573121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002164 {source="DOID:11864"} ! focal chorioretinitis

[Term]
id: MONDO:0001394
name: chronic erythremia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: DOID:11868 {source="MONDO:equivalentObsolete"}
xref: ICD9:207.1 {source="DOID:11868"}
xref: SCTID:188753004 {source="DOID:11868"}
xref: SCTID:190042004 {source="DOID:11868"}
xref: SCTID:269478004 {source="DOID:11868"}
xref: SCTID:48292007 {source="DOID:11868"}
xref: SCTID:92810002 {source="DOID:11868"}
is_a: MONDO:0005059 {source="DOID:11868"} ! leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0001395
name: macular keratitis
xref: DOID:11871 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.11 {source="DOID:11871"}
xref: ICD9:370.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11871"}
xref: MEDGEN:509772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193769006 {source="DOID:11871"}
xref: SCTID:2853006 {source="MONDO:equivalentTo", source="DOID:11871"}
xref: UMLS:C0155076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509772"}
is_a: MONDO:0003085 {source="DOID:11871"} ! keratitis

[Term]
id: MONDO:0001396
name: abnormal threshold of rods
synonym: "abnormal dark adaptation curve" EXACT [DOID:11874, ICD9CM:368.63]
xref: DOID:11874 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.61 {source="DOID:11874", source="MONDO:equivalentTo"}
xref: ICD9:368.63 {source="DOID:11874", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193692003 {source="DOID:11874"}
xref: SCTID:50455002 {source="DOID:11874", source="MONDO:equivalentTo"}
xref: UMLS:C0155019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509764"}
is_a: MONDO:0004588 {source="DOID:11874", source="ICD10CM:H53.61"} ! night blindness

[Term]
id: MONDO:0001397
name: mononeuropathy
def: "Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions." [MESH:D020422]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:1188 {source="MONDO:equivalentTo"}
xref: EFO:0009558 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G50-G59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G58.9 {source="DOID:1188"}
xref: MEDGEN:99214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020422 {source="DOID:1188", source="MONDO:equivalentTo"}
xref: SCTID:128189008 {source="DOID:1188", source="MONDO:equivalentTo"}
xref: SCTID:304595001 {source="DOID:1188"}
xref: UMLS:C0494491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99214"}
is_a: MONDO:0005244 {source="DOID:1188"} ! peripheral neuropathy

[Term]
id: MONDO:0001398
name: ureter benign neoplasm
def: "Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom." [MESH:D014516]
synonym: "benign neoplasm of the ureter" EXACT [NCIT:C3617]
synonym: "benign neoplasm of ureter" EXACT [NCIT:C3617]
synonym: "benign tumor of the ureter" EXACT [NCIT:C3617]
synonym: "benign tumor of ureter" EXACT [NCIT:C3617]
synonym: "benign tumour of the ureter" EXACT OMO:0003005 []
synonym: "benign tumour of ureter" EXACT OMO:0003005 []
synonym: "benign ureter neoplasm" EXACT [NCIT:C3617]
synonym: "benign ureter tumor" EXACT [NCIT:C3617]
synonym: "benign ureter tumour" EXACT OMO:0003005 []
synonym: "benign ureteral neoplasm" EXACT [NCIT:C3617]
synonym: "benign ureteral tumor" EXACT [NCIT:C3617]
synonym: "benign ureteral tumour" EXACT OMO:0003005 []
synonym: "benign ureteric neoplasm" EXACT [NCIT:C3617]
synonym: "benign ureteric neoplasm NOS" RELATED EXCLUDE [NCIT:C3617]
synonym: "neoplasm of ureter" RELATED EXCLUDE [DOID:11885]
synonym: "ureter benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "ureteral benign neoplasm" RELATED [DOID:11885]
synonym: "ureteral tumor" BROAD [DOID:11885, NCIT:C3427]
synonym: "ureteral tumour" BROAD OMO:0003005 []
xref: DOID:11885 {source="MONDO:equivalentTo"}
xref: ICD9:223.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014516 {source="DOID:11885", source="MONDO:directSiblingOf"}
xref: NCIT:C3617 {source="MONDO:equivalentTo"}
xref: SCTID:126882009 {source="DOID:11885"}
xref: SCTID:92464009 {source="MONDO:equivalentTo"}
xref: UMLS:C0154016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102303"}
is_a: MONDO:0004180 {source="DOID:11885", source="MONDO:Redundant", source="NCIT:C3617"} ! benign urinary system neoplasm
is_a: MONDO:0021111 {source="MONDO:Redundant", source="NCIT:C3617"} ! ureter neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0001399
name: ureter leiomyoma
def: "A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6161]
synonym: "leiomyoma of the ureter" EXACT [NCIT:C6161]
synonym: "leiomyoma of ureter" EXACT [NCIT:C6161]
synonym: "ureter leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6161]
synonym: "ureteral leiomyoma" EXACT [DOID:11887, NCIT:C6161]
xref: DOID:11887 {source="MONDO:equivalentTo"}
xref: MEDGEN:234457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6161 {source="DOID:11887", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234457"}
is_a: MONDO:0001398 {source="DOID:11887", source="MONDO:Redundant", source="NCIT:C6161"} ! ureter benign neoplasm
is_a: MONDO:0001572 {source="DOID:11887", source="MONDO:Redundant", source="NCIT:C6161"} ! leiomyoma
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0001400
name: schwannoma of ureter
def: "A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neurilemmoma of the ureter" EXACT [NCIT:C6162]
synonym: "neurilemmoma of ureter" EXACT [NCIT:C6162]
synonym: "schwannoma of the ureter" EXACT [NCIT:C6162]
synonym: "ureter neurilemmoma" EXACT [NCIT:C6162]
synonym: "ureter schwannoma" EXACT [MONDO:patterns/location]
synonym: "ureteral neurilemmoma" EXACT [NCIT:C6162]
synonym: "ureteral schwannoma" EXACT [DOID:11888, NCIT:C6162]
xref: DOID:11888 {source="MONDO:equivalentTo"}
xref: MEDGEN:234459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6162 {source="DOID:11888", source="MONDO:equivalentTo"}
xref: UMLS:C1336877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234459"}
is_a: MONDO:0001398 {source="DOID:11888", source="MONDO:Entailed", source="NCIT:C6162"} ! ureter benign neoplasm
is_a: MONDO:0004820 {source="DOID:11888", source="NCIT:C6162"} ! peripheral nerve schwannoma
intersection_of: MONDO:0002546 ! schwannoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0001401
name: female breast nipple and areola cancer
synonym: "malignant neoplasm of nipple and areola of female breast" EXACT [DOID:11889]
synonym: "malignant neoplasm of nipple or areola of female breast" EXACT [DOID:11889]
xref: DOID:11889 {source="MONDO:equivalentTo"}
xref: ICD9:174.0 {source="DOID:11889", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:507933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188147009 {source="DOID:11889", source="MONDO:equivalentTo"}
xref: SCTID:188150007 {source="DOID:11889"}
xref: UMLS:C0024621 {source="MEDGEN:507933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004379 {source="DOID:11889"} ! female breast carcinoma

[Term]
id: MONDO:0001402
name: vaginal cancer
def: "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." [NCIT:C7410]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of vagina" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the vagina" EXACT [NCIT:C7410]
synonym: "malignant neoplasm of vagina" EXACT [DOID:119, ICD9CM:184.0, MONDO:patterns/cancer, NCIT:C7410]
synonym: "malignant tumor of the vagina" EXACT [NCIT:C7410]
synonym: "malignant tumor of vagina" EXACT [NCIT:C7410]
synonym: "malignant tumour of the vagina" EXACT OMO:0003005 []
synonym: "malignant tumour of vagina" EXACT OMO:0003005 []
synonym: "malignant vagina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7410]
synonym: "malignant vagina tumor" EXACT [NCIT:C7410]
synonym: "malignant vagina tumour" EXACT OMO:0003005 []
synonym: "malignant vaginal neoplasm" EXACT [NCIT:C7410]
synonym: "malignant vaginal tumor" EXACT [DOID:119, NCIT:C7410]
synonym: "malignant vaginal tumour" EXACT OMO:0003005 []
synonym: "neoplasm of vagina" RELATED EXCLUDE [DOID:119]
synonym: "vagina cancer" EXACT [MONDO:patterns/location]
synonym: "vagina neoplasm" BROAD [DOID:119]
synonym: "vaginal tumor" BROAD [DOID:119, NCIT:C3437]
synonym: "vaginal tumour" BROAD OMO:0003005 []
xref: DOID:119 {source="MONDO:equivalentTo"}
xref: ICD10CM:C52 {source="DOID:119"}
xref: ICD9:184.0 {source="DOID:119", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:12040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014625 {source="DOID:119", source="MONDO:equivalentTo"}
xref: NCIT:C3437 {source="DOID:119"}
xref: NCIT:C7410 {source="DOID:119", source="MONDO:equivalentTo"}
xref: SCTID:126921000 {source="DOID:119"}
xref: SCTID:154534007 {source="DOID:119"}
xref: SCTID:188210000 {source="DOID:119"}
xref: SCTID:363445000 {source="DOID:119", source="MONDO:equivalentTo"}
xref: UMLS:C0042237 {source="MEDGEN:12040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001416 {source="DOID:119", source="MONDO:Redundant", source="NCIT:C7410"} ! female reproductive organ cancer
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C7410"} ! vaginal neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000996 ! vagina
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9348/vaginal-cancer" xsd:anyURI {source="GARD:0009348"}

[Term]
id: MONDO:0001403
name: labium majus cancer
def: "A malignant neoplasm involving the labium majora." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of labium majora" EXACT [MONDO:patterns/cancer]
synonym: "labium majora cancer" EXACT [MONDO:patterns/location]
synonym: "malignant labia majora neoplasm" EXACT [NCIT:C7638]
synonym: "malignant labia majora tumor" EXACT [NCIT:C7638]
synonym: "malignant labia majora tumour" EXACT OMO:0003005 []
synonym: "malignant labium majora neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of labia majora" EXACT [DOID:11905, ICD9CM:184.1, NCIT:C7638]
synonym: "malignant neoplasm of labium majora" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the labia majora" EXACT [NCIT:C7638]
synonym: "malignant tumor of labia majora" EXACT [DOID:11905, NCIT:C7638]
synonym: "malignant tumor of the labia majora" EXACT [NCIT:C7638]
synonym: "malignant tumour of labia majora" EXACT OMO:0003005 []
synonym: "malignant tumour of the labia majora" EXACT OMO:0003005 []
xref: DOID:11905 {source="MONDO:equivalentTo"}
xref: ICD10CM:C51.0 {source="DOID:11905"}
xref: ICD9:184.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11905"}
xref: MEDGEN:96920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7638 {source="MONDO:equivalentTo", source="DOID:11905"}
xref: SCTID:188212008 {source="DOID:11905"}
xref: SCTID:363446004 {source="MONDO:equivalentTo", source="DOID:11905"}
xref: SCTID:93850006 {source="DOID:11905"}
xref: UMLS:C0496814 {source="MEDGEN:96920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001528 {source="DOID:11905", source="MONDO:Redundant", source="NCIT:C7638"} ! vulva cancer
is_a: MONDO:0002898 {source="DOID:11905", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0004085 ! labium majora

[Term]
id: MONDO:0001404
name: ecthyma
def: "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" [MESH:D004473]
xref: DOID:11907 {source="MONDO:equivalentTo"}
xref: ICD9:686.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004473 {source="MONDO:equivalentTo", source="DOID:11907"}
xref: SCTID:85791004 {source="MONDO:equivalentTo", source="DOID:11907"}
xref: UMLS:C0013568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8541"}
is_a: MONDO:0004592 {source="DOID:11907", source="EFO:1000689"} ! impetigo

[Term]
id: MONDO:0001405
name: dermatophytosis of groin and perianal area
def: "Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area." [NCIT:C34535]
synonym: "dermatophytosis of groin & perianal area" EXACT [DOID:11917]
synonym: "dermatophytosis of groin and perianal area" EXACT [DOID:11917, NCIT:C34535]
synonym: "Dhobie itch" EXACT [DOID:11917]
synonym: "tinea cruris" RELATED [DOID:11917]
xref: DOID:11917 {source="MONDO:equivalentTo"}
xref: ICD9:110.3 {source="DOID:11917"}
xref: MEDGEN:3769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34535 {source="MONDO:equivalentTo", source="DOID:11917"}
xref: SCTID:186989008 {source="DOID:11917"}
xref: SCTID:186992007 {source="DOID:11917"}
xref: SCTID:266150008 {source="DOID:11917"}
xref: SCTID:399029005 {source="MONDO:equivalentTo"}
xref: SCTID:59089002 {source="DOID:11917"}
xref: UMLS:C0011638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3769"}
is_a: MONDO:0004678 {source="DOID:11917", source="NCIT:C34535"} ! dermatophytosis

[Term]
id: MONDO:0001406
name: peripheral nervous system neoplasm
def: "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." [NCIT:C3321]
subset: otar {source="MONDO:OTAR"}
synonym: "CNS-excluded nervous sys. cancer" NARROW [NCIT:C3321]
synonym: "CNS-excluded nervous system cancer, NOS" RELATED EXCLUDE [NCIT:C3321]
synonym: "neoplasm of peripheral nerve" EXACT [NCIT:C3321]
synonym: "neoplasm of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321]
synonym: "neoplasm of PNS" EXACT [NCIT:C3321]
synonym: "neoplasm of the peripheral nerve" EXACT [NCIT:C3321]
synonym: "neoplasm of the peripheral nervous system" EXACT [NCIT:C3321]
synonym: "neoplasm of the PNS" EXACT [NCIT:C3321]
synonym: "neoplasms, peripheral nervous system" EXACT [NCIT:C3321]
synonym: "neoplasms, PNS" EXACT [NCIT:C3321]
synonym: "nerve sheath neoplasm" NARROW [DOID:1192]
synonym: "nerve sheath tumors" NARROW [DOID:1192]
synonym: "nerve sheath tumours" NARROW OMO:0003005 []
synonym: "peripheral nerve neoplasm" EXACT [NCIT:C3321]
synonym: "peripheral nerve tumor" EXACT [NCIT:C3321]
synonym: "peripheral nerve tumour" EXACT OMO:0003005 []
synonym: "peripheral nervous system neoplasm" EXACT [NCIT:C3321]
synonym: "peripheral nervous system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "peripheral nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3321]
synonym: "peripheral nervous system tumour" EXACT OMO:0003005 []
synonym: "PNS neoplasm" EXACT [NCIT:C3321]
synonym: "PNS neoplasms" EXACT [NCIT:C3321]
synonym: "PNS tumor" EXACT [NCIT:C3321]
synonym: "PNS tumour" EXACT OMO:0003005 []
synonym: "tumor of peripheral nerve" EXACT [NCIT:C3321]
synonym: "tumor of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321]
synonym: "tumor of PNS" EXACT [DOID:1192, NCIT:C3321]
synonym: "tumor of the peripheral nerve" EXACT [NCIT:C3321]
synonym: "tumor of the peripheral nervous system" EXACT [NCIT:C3321]
synonym: "tumor of the PNS" EXACT [NCIT:C3321]
synonym: "tumour of peripheral nerve" EXACT OMO:0003005 []
synonym: "tumour of peripheral nervous system" EXACT OMO:0003005 []
synonym: "tumour of PNS" EXACT OMO:0003005 []
synonym: "tumour of the peripheral nerve" EXACT OMO:0003005 []
synonym: "tumour of the peripheral nervous system" EXACT OMO:0003005 []
synonym: "tumour of the PNS" EXACT OMO:0003005 []
xref: DOID:1192 {source="MONDO:equivalentTo"}
xref: EFO:0002431 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010524 {source="MONDO:equivalentTo", source="DOID:1192"}
xref: MESH:D018317 {source="DOID:1192"}
xref: NCIT:C12465 {source="ONCOTREE:PNS"}
xref: NCIT:C3321 {source="MONDO:equivalentTo", source="DOID:1192"}
xref: NCIT:C4972 {source="DOID:1192"}
xref: ONCOTREE:PNS {source="MONDO:equivalentTo"}
xref: SCTID:115242003 {source="DOID:1192"}
xref: SCTID:126980002 {source="MONDO:equivalentTo", source="DOID:1192"}
xref: SCTID:134214003 {source="DOID:1192"}
xref: SCTID:189946005 {source="DOID:1192"}
xref: SCTID:189953001 {source="DOID:1192"}
xref: UMLS:C0031118 {source="MONDO:equivalentTo", source="MEDGEN:45817", source="MONDO:MEDGEN"}
is_a: MONDO:0003620 {source="MESH:D010524", source="MONDO:Redundant", source="NCIT:C3321"} ! peripheral nervous system disorder
is_a: MONDO:0005070 {source="DOID:1192/inferred", source="MESH:D010524/inferred", source="MONDO:0001406/inferred", source="MONDO:Redundant", source="NCIT:C3321/inferred"} ! neoplasm
is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C3321"} ! nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system

[Term]
id: MONDO:0001407
name: tracheal cancer
def: "A malignant neoplasm involving the trachea" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca trachea" EXACT [DOID:11920]
synonym: "cancer of trachea" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the trachea" EXACT [NCIT:C9346]
synonym: "malignant neoplasm of trachea" EXACT [DOID:11920, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9346]
synonym: "malignant trachea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9346]
synonym: "malignant trachea tumor" EXACT [NCIT:C9346]
synonym: "malignant trachea tumour" EXACT OMO:0003005 []
synonym: "malignant tracheal neoplasm" EXACT [NCIT:C9346]
synonym: "malignant tracheal tumor" EXACT [DOID:11920, NCIT:C9346]
synonym: "malignant tracheal tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of the trachea" EXACT [NCIT:C9346]
synonym: "malignant tumor of trachea" EXACT [NCIT:C9346]
synonym: "malignant tumour of the trachea" EXACT OMO:0003005 []
synonym: "malignant tumour of trachea" EXACT OMO:0003005 []
synonym: "trachea cancer" EXACT [MONDO:patterns/location]
synonym: "tracheal neoplasm" BROAD [DOID:11920]
xref: DOID:11920 {source="MONDO:equivalentTo"}
xref: ICD10CM:C33 {source="DOID:11920", source="MONDO:equivalentTo"}
xref: ICD9:162.0 {source="DOID:11920", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9346 {source="DOID:11920", source="MONDO:equivalentTo"}
xref: SCTID:187855003 {source="DOID:11920"}
xref: SCTID:269562004 {source="DOID:11920"}
xref: SCTID:363432004 {source="DOID:11920", source="MONDO:equivalentTo"}
xref: UMLS:C0153489 {source="MEDGEN:102274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000376 {source="DOID:11920", source="MONDO:Redundant"} ! respiratory system cancer
is_a: MONDO:0002567 {source="DOID:11920", source="MONDO:Redundant", source="NCIT:C9346/inferred"} ! tracheal disorder
is_a: MONDO:0021210 {source="MONDO:Redundant", source="NCIT:C9346"} ! trachea neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0001408
name: ischemic neuropathy
def: "Neuropathy that is caused by inadequate blood supply." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ischaemic peripheral neuropathy" EXACT OMO:0003005 []
synonym: "ischemic peripheral neuropathy" EXACT [DOID:1195]
xref: DOID:1195 {source="MONDO:equivalentTo"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:116055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27025 {source="MONDO:equivalentTo", source="DOID:1195"}
xref: SCTID:129611009 {source="MONDO:equivalentTo", source="DOID:1195"}
xref: SCTID:230599000 {source="DOID:1195"}
xref: UMLS:C0238309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116055"}
is_a: MONDO:0005244 {source="DOID:1195", source="NCIT:C27025"} ! peripheral neuropathy

[Term]
id: MONDO:0001409
name: esophagitis
def: "An acute or chronic inflammatory disease affecting the esophageal wall." [https://orcid.org/0000-0002-6601-2165, NCIT:C9224]
subset: otar {source="MONDO:OTAR"}
synonym: "acute esophagitis" NARROW [DOID:11963]
synonym: "esophagitis" EXACT [MONDO:ambiguous]
synonym: "esophagitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "esophagus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of esophagus" EXACT []
synonym: "inflammation of oesophagus" EXACT OMO:0003005 []
synonym: "oesophagus inflammation" EXACT OMO:0003005 []
xref: DOID:11963 {source="MONDO:equivalentTo"}
xref: HP:0100633 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K20 {source="DOID:11963"}
xref: ICD10CM:K20.9 {source="DOID:11963"}
xref: ICD9:530.1 {source="DOID:11963"}
xref: ICD9:530.10 {source="DOID:11963"}
xref: ICD9:530.12 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004941 {source="DOID:11963", source="MONDO:equivalentTo"}
xref: NCIT:C9224 {source="DOID:11963", source="MONDO:equivalentTo"}
xref: SCTID:155673008 {source="DOID:11963"}
xref: SCTID:16761005 {source="DOID:11963", source="MONDO:equivalentTo"}
xref: SCTID:196605000 {source="DOID:11963"}
xref: SCTID:266498005 {source="DOID:11963"}
xref: UMLS:C0014868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4549"}
is_a: MONDO:0003749 {source="DOID:11963", source="MESH:D004941", source="MONDO:Redundant", source="NCIT:C9224/inferred"} ! esophageal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001043 ! esophagus
property_value: IAO:0000589 "esophagitis (disease)" xsd:string

[Term]
id: MONDO:0001410
name: postmenopausal atrophic vaginitis
def: "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause." [MESH:D059268]
subset: otar {source="MONDO:OTAR"}
synonym: "atrophic vaginitis" EXACT [DOID:11968]
synonym: "senile vaginitis" EXACT [DOID:11968]
xref: DOID:11968 {source="MONDO:equivalentTo"}
xref: ICD10CM:N95.2 {source="MONDO:equivalentTo", source="DOID:11968"}
xref: ICD9:627.3 {source="MONDO:equivalentTo", source="DOID:11968", source="MONDO:i2s"}
xref: MEDGEN:510282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059268 {source="MONDO:equivalentTo"}
xref: SCTID:156054004 {source="DOID:11968"}
xref: SCTID:52441000 {source="MONDO:equivalentTo", source="DOID:11968"}
xref: UMLS:C0156409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510282"}
is_a: MONDO:0002234 {source="DOID:11968", source="EFO:1001271", source="MESH:D059268"} ! vaginitis
relationship: disease_arises_from_feature HP:0025132 ! Abnormal circulating estrogen level
relationship: realized_in_response_to GO:0042697 ! menopause

[Term]
id: MONDO:0001411
name: synostosis
def: "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue." [MESH:D013580, Wikipedia:Synostosis]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:11971 {source="MONDO:equivalentTo"}
xref: MEDGEN:11689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013580 {source="MONDO:equivalentTo", source="DOID:11971"}
xref: UMLS:C0039093 {source="MEDGEN:11689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018234 {source="DOID:11971", source="MESH:D013580"} ! dysostosis

[Term]
id: MONDO:0001412
name: conjunctival concretion
xref: DOID:11988 {source="MONDO:equivalentTo"}
xref: ICD10CM:H11.12 {source="DOID:11988"}
xref: ICD9:372.54 {source="DOID:11988", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:13706005 {source="DOID:11988", source="MONDO:equivalentTo"}
xref: UMLS:C0155162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509822"}
is_a: MONDO:0001331 {source="DOID:11988"} ! conjunctival deposit

[Term]
id: MONDO:0001413
name: ulceroglandular tularemia
def: "A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion." [DOID:11990, http://emedicine.medscape.com/article/230923-clinical, http://www.cdc.gov/tularemia/signssymptoms/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:11990 {source="MONDO:equivalentTo"}
xref: ICD10CM:A21.0 {source="MONDO:equivalentTo", source="DOID:11990"}
xref: ICD9:021.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11990"}
xref: MEDGEN:509087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:37722001 {source="MONDO:equivalentTo", source="DOID:11990"}
xref: UMLS:C0152941 {source="MONDO:equivalentTo", source="MEDGEN:509087", source="MONDO:MEDGEN"}
is_a: MONDO:0018077 {source="DOID:11990", source="ICD10CM:A21.0"} ! tularemia

[Term]
id: MONDO:0001414
name: osteopoikilosis
def: "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "osteopathia condensans disseminata" RELATED [GARD:0004158]
synonym: "osteopoikilosis" EXACT [MONDO:ambiguous]
synonym: "osteopoikilosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "spotted bones" RELATED [GARD:0004158]
xref: DOID:11991 {source="MONDO:equivalentTo"}
xref: HP:0010739 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q78.8 {source="DOID:11991"}
xref: ICD9:756.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11991"}
xref: MEDGEN:45251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010023 {source="MONDO:equivalentTo", source="DOID:11991"}
xref: NANDO:2201024 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84985 {source="MONDO:equivalentTo", source="DOID:11991"}
xref: SCTID:9147009 {source="MONDO:equivalentTo", source="DOID:11991"}
xref: UMLS:C0029455 {source="MONDO:equivalentTo", source="MEDGEN:45251", source="MONDO:MEDGEN"}
is_a: MONDO:0002933 {source="DOID:11991", source="MESH:D010023"} ! osteosclerosis
relationship: disease_has_feature HP:0011001 ! Increased bone mineral density
property_value: IAO:0000589 "osteopoikilosis (disease)" xsd:string

[Term]
id: MONDO:0001415
name: atrophy of testis
def: "Loss of testicular volume." [NCIT:P378]
synonym: "testicular atrophy" EXACT [NCIT:C123259]
xref: DOID:11994 {source="MONDO:equivalentTo"}
xref: ICD10CM:N50.0 {source="MONDO:equivalentTo", source="DOID:11994"}
xref: ICD9:608.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11994"}
xref: MEDGEN:57626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123259 {source="MONDO:equivalentTo", source="DOID:11994"}
xref: SCTID:155938008 {source="DOID:11994"}
xref: SCTID:17585008 {source="MONDO:equivalentTo", source="DOID:11994"}
xref: SCTID:249242001 {source="DOID:11994"}
xref: UMLS:C0156312 {source="MEDGEN:57626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002329 {source="DOID:11994", source="NCIT:C123259/inferred"} ! testicular disorder

[Term]
id: MONDO:0001416
name: female reproductive organ cancer
def: "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma." [NCIT:C4913]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of female reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "female reprod. system cancer, NOS" RELATED EXCLUDE [NCIT:C4913]
synonym: "female reproductive cancer" EXACT [DOID:120, NCIT:C4913]
synonym: "female reproductive organ cancer" EXACT [MONDO:patterns/location]
synonym: "female reproductive system cancer, NOS" RELATED EXCLUDE [NCIT:C4913]
synonym: "gynecologic cancer" EXACT [NCIT:C4913]
synonym: "malignant female reproductive organ neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant female reproductive system neoplasm" EXACT [NCIT:C4913]
synonym: "malignant female reproductive system tumor" EXACT [NCIT:C4913]
synonym: "malignant female reproductive system tumour" EXACT OMO:0003005 []
synonym: "malignant gynecologic neoplasm" EXACT [NCIT:C4913]
synonym: "malignant gynecologic tumor" EXACT [DOID:120, NCIT:C4913]
synonym: "malignant gynecologic tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of female genital organ" EXACT [DOID:120]
synonym: "malignant neoplasm of female reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of female reproductive system" EXACT [NCIT:C4913]
synonym: "malignant neoplasm of the female reproductive system" EXACT [NCIT:C4913]
synonym: "malignant tumor of female reproductive system" EXACT [NCIT:C4913]
synonym: "malignant tumor of the female reproductive system" EXACT [NCIT:C4913]
synonym: "malignant tumour of female reproductive system" EXACT OMO:0003005 []
synonym: "malignant tumour of the female reproductive system" EXACT OMO:0003005 []
xref: DOID:120 {source="MONDO:equivalentTo"}
xref: EFO:1001331 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C51-C58 {source="MONDO:equivalentTo"}
xref: ICD10CM:C57 {source="DOID:120"}
xref: ICD9:184 {source="DOID:120"}
xref: MEDGEN:195944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005833 {source="DOID:120"}
xref: NCIT:C3053 {source="DOID:120"}
xref: NCIT:C4913 {source="MONDO:equivalentTo", source="DOID:120"}
xref: SCTID:126907002 {source="MONDO:equivalentTo", source="DOID:120"}
xref: SCTID:188207007 {source="DOID:120"}
xref: UMLS:C0699889 {source="MEDGEN:195944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002149 {source="DOID:120", source="MONDO:Redundant", source="NCIT:C4913"} ! reproductive system cancer
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4913"} ! female reproductive system neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003134 ! female reproductive organ

[Term]
id: MONDO:0001417
name: tracheal lymphoma
def: "A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor." [NCIT:C6248]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoma of the trachea" EXACT [DOID:12001, NCIT:C6248]
synonym: "lymphoma of trachea" EXACT [DOID:12001, NCIT:C6248]
synonym: "primary tracheal lymphoma" EXACT [NCIT:C6248]
synonym: "trachea lymphoma" EXACT [MONDO:patterns/location]
synonym: "tracheal lymphoma" EXACT [NCIT:C6248]
xref: DOID:12001 {source="MONDO:equivalentTo"}
xref: MEDGEN:277825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6248 {source="MONDO:equivalentTo", source="DOID:12001", source="MONDO:exact-label-match"}
xref: UMLS:C1336773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277825"}
is_a: MONDO:0001407 {source="DOID:12001", source="NCIT:C6248"} ! tracheal cancer
is_a: MONDO:0005062 {source="DOID:12001", source="MONDO:Redundant", source="NCIT:C6248/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0001418
name: trachea sarcoma
def: "A rare malignant soft tissue neoplasm that arises from the trachea." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "sarcoma of the trachea" EXACT [DOID:12002, NCIT:C6050]
synonym: "sarcoma of trachea" EXACT [MONDO:patterns/sarcoma, NCIT:C6050]
synonym: "trachea sarcoma" EXACT [MONDO:patterns/location, NCIT:C6050]
synonym: "tracheal sarcoma" EXACT [NCIT:C6050]
xref: DOID:12002 {source="MONDO:equivalentTo"}
xref: MEDGEN:237016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6050 {source="MONDO:equivalentTo", source="DOID:12002"}
xref: UMLS:C1336774 {source="MEDGEN:237016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001407 {source="DOID:12002", source="MONDO:Redundant", source="NCIT:C6050"} ! tracheal cancer
is_a: MONDO:0005089 {source="DOID:12002", source="MONDO:Redundant", source="NCIT:C6050/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C6050"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0001419
name: trachea squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "epidermoid carcinoma of the trachea" EXACT [NCIT:C4448]
synonym: "epidermoid carcinoma of trachea" EXACT [NCIT:C4448]
synonym: "squamous cell carcinoma of the trachea" EXACT [NCIT:C4448]
synonym: "squamous cell carcinoma of trachea" EXACT [DOID:12003, NCIT:C4448]
synonym: "trachea epidermoid carcinoma" EXACT [NCIT:C4448]
synonym: "trachea squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4448]
synonym: "tracheal epidermoid carcinoma" EXACT [DOID:12003, NCIT:C4448]
synonym: "tracheal squamous cell carcinoma" EXACT [NCIT:C4448]
xref: DOID:12003 {source="MONDO:equivalentTo"}
xref: EFO:1000600 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4448 {source="MONDO:equivalentTo", source="EFO:1000600", source="DOID:12003"}
xref: SCTID:254620000 {source="MONDO:equivalentTo", source="DOID:12003"}
xref: UMLS:C0345946 {source="MEDGEN:91059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003184 {source="DOID:12003", source="MONDO:Redundant", source="NCIT:C4448"} ! trachea carcinoma
is_a: MONDO:0005096 {source="DOID:12003", source="EFO:1000600", source="MONDO:Redundant", source="NCIT:C4448"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0001420
name: trigeminal nerve neoplasm
def: "Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure." [NCIT:C5122]
synonym: "cranial nerve V neoplasms" EXACT [NCIT:C5122]
synonym: "cranial nerve V tumors" EXACT [NCIT:C5122]
synonym: "cranial nerve V tumours" EXACT OMO:0003005 []
synonym: "fifth cranial nerve neoplasm" EXACT [NCIT:C5122]
synonym: "fifth cranial nerve tumor" EXACT [NCIT:C5122]
synonym: "fifth cranial nerve tumour" EXACT OMO:0003005 []
synonym: "neoplasm of fifth cranial nerve" EXACT [NCIT:C5122]
synonym: "neoplasm of the fifth cranial nerve" EXACT [NCIT:C5122]
synonym: "neoplasm of the trigeminal nerve" EXACT [NCIT:C5122]
synonym: "neoplasm of trigeminal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5122]
synonym: "neoplasms, cranial nerve V" EXACT [NCIT:C5122]
synonym: "trigeminal nerve neoplasm" EXACT [NCIT:C5122]
synonym: "trigeminal nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "trigeminal nerve neoplasms" EXACT [NCIT:C5122]
synonym: "trigeminal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5122]
synonym: "trigeminal nerve tumors" EXACT [NCIT:C5122]
synonym: "trigeminal nerve tumour" EXACT OMO:0003005 []
synonym: "trigeminal nerve tumours" EXACT OMO:0003005 []
synonym: "tumor of fifth cranial nerve" EXACT [NCIT:C5122]
synonym: "tumor of the fifth cranial nerve" EXACT [NCIT:C5122]
synonym: "tumor of the trigeminal nerve" EXACT [NCIT:C5122]
synonym: "tumor of trigeminal nerve" EXACT [DOID:1201, MONDO:patterns/neoplasm, NCIT:C5122]
synonym: "tumors, cranial nerve V" EXACT [NCIT:C5122]
synonym: "tumour of fifth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the fifth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the trigeminal nerve" EXACT OMO:0003005 []
synonym: "tumour of trigeminal nerve" EXACT OMO:0003005 []
xref: DOID:1201 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5122 {source="DOID:1201", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126971002 {source="DOID:1201", source="MONDO:equivalentTo"}
xref: UMLS:C1263897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226812"}
is_a: MONDO:0002633 {source="DOID:1201", source="MONDO:Redundant", source="NCIT:C5122"} ! cranial nerve neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001645 ! trigeminal nerve

[Term]
id: MONDO:0001421
name: frontal lobe neoplasm
def: "A neoplasm involving a frontal lobe." [MONDO:patterns/neoplasm]
synonym: "frontal lobe neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "frontal lobe tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "frontal lobe tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of frontal lobe" NARROW [DOID:12016]
synonym: "neoplasm of frontal lobe" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the frontal lobe" EXACT [NCIT:C5572]
synonym: "tumor of frontal lobe" EXACT [DOID:12016, MONDO:patterns/neoplasm, NCIT:C5572]
synonym: "tumor of the frontal lobe" EXACT [NCIT:C5572]
synonym: "tumour of frontal lobe" EXACT OMO:0003005 []
synonym: "tumour of the frontal lobe" EXACT OMO:0003005 []
xref: DOID:12016 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71.1 {source="DOID:12016"}
xref: ICD9:191.1 {source="DOID:12016"}
xref: MEDGEN:224730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5572 {source="MONDO:equivalentTo", source="DOID:12016"}
xref: SCTID:126954003 {source="MONDO:equivalentTo", source="DOID:12016"}
xref: SCTID:363467004 {source="DOID:12016"}
xref: SCTID:93807001 {source="DOID:12016"}
xref: UMLS:C1263886 {source="MEDGEN:224730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:12016/inferred", source="MONDO:Redundant"} ! brain disorder
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C5572"} ! neoplasm of cerebral hemisphere
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0016525 ! frontal lobe

[Term]
id: MONDO:0001422
name: primary aldosteronism
def: "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache." [NCIT:C34510]
comment: Editor note: DOID class refers to adenoma-caused Conn syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "Conn syndrome" EXACT [DOID:12028, NCIT:C34510]
synonym: "Conn's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C34510]
synonym: "primary aldosteronism" EXACT [DOID:12028, ICD9CM:255.10, Wikipedia:Primary_aldosteronism]
synonym: "primary hyperaldosteronism" EXACT [DOID:12028, NCIT:C34510]
xref: DOID:12028 {source="MONDO:equivalentTo"}
xref: ICD10CM:E26.0 {source="DOID:12028", source="MONDO:equivalentTo"}
xref: ICD10CM:E26.01 {source="DOID:12028"}
xref: ICD9:255.12 {source="DOID:12028", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:278002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006929 {source="DOID:12028", source="MONDO:relatedTo"}
xref: NANDO:2200361 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34510 {source="DOID:12028", source="MONDO:equivalentTo"}
xref: SCTID:13536004 {source="DOID:12028"}
xref: SCTID:154709005 {source="DOID:12028"}
xref: SCTID:190506003 {source="DOID:12028"}
xref: SCTID:190507007 {source="DOID:12028", source="MONDO:equivalentTo"}
xref: SCTID:258117004 {source="DOID:12028"}
xref: SCTID:267484005 {source="DOID:12028"}
xref: UMLS:C1384514 {source="MEDGEN:278002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="DOID:12028/inferred", source="NCIT:C34510/inferred"} ! disease
is_a: MONDO:0003009 {source="ICD10CM:E26.0", source="https://orcid.org/0000-0001-5208-3432"} ! hyperaldosteronism
relationship: disease_has_basis_in_disruption_of GO:0035932 ! aldosterone secretion
relationship: disease_has_feature HP:0003351 ! Decreased circulating renin level
relationship: disease_has_feature HP:0030852 ! High pulse pressure
relationship: disease_has_location UBERON:0002369 ! adrenal gland
relationship: excluded_subClassOf MONDO:0003924 {source="DOID:12028", source="https://orcid.org/0000-0001-5208-3432"} ! adrenal cortex adenoma

[Term]
id: MONDO:0001423
name: drug-induced mental disorder
subset: otar {source="MONDO:OTAR"}
xref: DOID:1203 {source="MONDO:equivalentTo"}
xref: ICD10CM:F10-F19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:292.8 {source="DOID:1203"}
xref: ICD9:292.89 {source="DOID:1203"}
xref: MEDGEN:1843491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0154330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843491"}
intersection_of: MONDO:0005084 ! mental disorder
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug
relationship: excluded_subClassOf MONDO:0004630 {source="DOID:1203", source="https://orcid.org/0000-0001-5208-3432"} ! substance-induced psychosis

[Term]
id: MONDO:0001424
name: obsolete sarcoid meningitis
def: "OBSOLETE. Meningitis that arises from sarcoidosis." [Wikipedia:Neurosarcoidosis]
comment: Represents a finding not a disease.
synonym: "meningitis in sarcoidosis" EXACT [DOID:12055, ICD9CM:321.4]
xref: DOID:12055 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D86.81 {source="MONDO:obsoleteEquivalent", source="DOID:12055"}
xref: ICD9:321.4 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:12055"}
xref: SCTID:192673008 {source="MONDO:obsoleteEquivalent", source="DOID:12055"}
relationship: excluded_subClassOf MONDO:0004796 {source="DOID:12055", source="https://orcid.org/0000-0001-5208-3432"} ! infectious meningitis
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0001425
name: obsolete Rett syndrome
is_obsolete: true
replaced_by: MONDO:0010726

[Term]
id: MONDO:0001426
name: mediastinum neurofibroma
def: "A neurofibroma that arises from the posterior mediastinum. Excision is usually curative." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinal neurofibroma" EXACT [NCIT:C6631]
synonym: "mediastinum neurofibroma" EXACT [MONDO:patterns/location]
synonym: "neurofibroma of mediastinum" EXACT [DOID:12064, NCIT:C6631]
synonym: "neurofibroma of the mediastinum" EXACT [NCIT:C6631]
xref: DOID:12064 {source="MONDO:equivalentTo"}
xref: MEDGEN:277354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6631 {source="MONDO:equivalentTo", source="DOID:12064"}
xref: UMLS:C1334674 {source="MEDGEN:277354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003098 {source="DOID:12064", source="NCIT:C6631"} ! mediastinal neural neoplasm
is_a: MONDO:0016755 {source="DOID:12064", source="MONDO:Redundant", source="NCIT:C6631"} ! neurofibroma
intersection_of: MONDO:0016755 ! neurofibroma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0001427
name: Dieulafoy lesion
def: "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly." [https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion]
synonym: "Dieulafoy disease" RELATED [GARD:0010930]
synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT [DOID:12070]
synonym: "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [DOID:12070]
synonym: "Dieulafoy's lesion" RELATED [GARD:0010930]
synonym: "Exulceratio simplex Dieulafoy" RELATED [GARD:0010930]
xref: DOID:12070 {source="MONDO:equivalentTo"}
xref: ICD10CM:K31.82 {source="DOID:12070", source="MONDO:equivalentTo"}
xref: ICD9:537.84 {source="DOID:12070", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:574250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:109558001 {source="MONDO:equivalentTo"}
xref: UMLS:C0341217 {source="MEDGEN:574250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004298 {source="DOID:12070"} ! stomach disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion" xsd:anyURI {source="GARD:0010930"}

[Term]
id: MONDO:0001428
name: pylorospasm
xref: DOID:12072 {source="MONDO:equivalentTo"}
xref: ICD9:537.81 {source="DOID:12072", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:335002 {source="DOID:12072", source="MONDO:equivalentTo"}
xref: UMLS:C0152163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508908"}
is_a: MONDO:0004298 {source="DOID:12072"} ! stomach disorder

[Term]
id: MONDO:0001429
name: transient arthropathy
def: "Arthropathy that is not permanent." [NCIT:C35761]
synonym: "transient arthropathy involving forearm" NARROW [DOID:12084]
synonym: "transient arthropathy involving hand" NARROW [DOID:12084]
synonym: "transient arthropathy involving lower leg" NARROW [DOID:12084]
synonym: "transient arthropathy involving multiple sites" NARROW [DOID:12084]
synonym: "transient arthropathy involving pelvic region and thigh" NARROW [DOID:12084]
synonym: "transient arthropathy involving shoulder region" NARROW [DOID:12084]
synonym: "transient arthropathy involving upper arm" NARROW [DOID:12084]
xref: DOID:12084 {source="MONDO:equivalentTo"}
xref: ICD9:716.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:716.41 {source="DOID:12084"}
xref: ICD9:716.48 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:101813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35761 {source="MONDO:equivalentTo"}
xref: SCTID:66191007 {source="MONDO:equivalentTo"}
xref: UMLS:C0152083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101813"}
is_a: MONDO:0006816 {source="DOID:12084/inferred", source="MONDO:Redundant", source="NCIT:C35761"} ! arthropathy
intersection_of: MONDO:0006816 ! arthropathy
intersection_of: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0001430
name: deep corneal vascularisation
synonym: "deep vascularization of cornea" EXACT [DOID:12087, ICD9CM:370.63]
xref: DOID:12087 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.44 {source="DOID:12087"}
xref: ICD9:370.63 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12087"}
xref: MEDGEN:509784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:2102007 {source="MONDO:equivalentTo", source="DOID:12087"}
xref: UMLS:C0155095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509784"}
is_a: MONDO:0006713 {source="DOID:12087"} ! corneal neovascularization

[Term]
id: MONDO:0001431
name: toxic or nutritional optic neuropathy
def: "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Toxic_and_nutritional_optic_neuropathy]
synonym: "nutritional optic neuropathy" BROAD [DOID:1209]
xref: DOID:1209 {source="MONDO:equivalentTo"}
xref: ICD10CM:H46.2 {source="MONDO:equivalentTo", source="DOID:1209"}
xref: ICD9:377.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1209"}
xref: MEDGEN:509902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:82108004 {source="MONDO:equivalentTo", source="DOID:1209"}
xref: UMLS:C0155302 {source="MEDGEN:509902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005885 {source="DOID:1209", source="ICD10CM:H46.2"} ! optic neuritis

[Term]
id: MONDO:0001432
name: obsolete sodoku disease
is_obsolete: true
replaced_by: MONDO:0020532

[Term]
id: MONDO:0001433
name: vaginal disorder
def: "A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of vagina" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vagina" EXACT []
synonym: "disorder of vagina" EXACT [MONDO:patterns/location_top]
synonym: "vagina disease" EXACT [MONDO:patterns/location]
synonym: "vagina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vaginal disease" EXACT [NCIT:C26910]
synonym: "vaginal disorder" EXACT [NCIT:C26910]
xref: DOID:121 {source="MONDO:equivalentTo"}
xref: MEDGEN:12042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014623 {source="MONDO:equivalentTo", source="DOID:121"}
xref: NCIT:C26910 {source="MONDO:equivalentTo", source="DOID:121"}
xref: SCTID:156015000 {source="DOID:121"}
xref: SCTID:156018003 {source="DOID:121"}
xref: SCTID:25658005 {source="MONDO:equivalentTo", source="DOID:121"}
xref: SCTID:266665005 {source="DOID:121"}
xref: SCTID:286989007 {source="DOID:121"}
xref: UMLS:C0042251 {source="MONDO:equivalentTo", source="MEDGEN:12042", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:121", source="MESH:D014623", source="MONDO:Redundant", source="NCIT:C26910"} ! female reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0001434
name: inflammatory spondylopathy
subset: otar {source="MONDO:OTAR"}
synonym: "inflammatory spondylopathies in disease classified elsewhere" NARROW [DOID:12105, ICD9CM:720.81]
synonym: "inflammatory spondylopathies in disease EC" EXACT [DOID:12105]
synonym: "inflammatory spondylopathy in disease classified elsewhere" NARROW [DOID:12105]
xref: DOID:12105 {source="MONDO:equivalentTo"}
xref: ICD9:720.81 {source="DOID:12105"}
xref: ICD9:720.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:720.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:215416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:202649003 {source="MONDO:equivalentTo"}
xref: SCTID:202652006 {source="DOID:12105"}
xref: SCTID:6963001 {source="DOID:12105"}
xref: UMLS:C0949690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:215416"}
is_a: MONDO:0003937 {source="DOID:12105"} ! spondylitis

[Term]
id: MONDO:0001435
name: bullous retinoschisis
xref: DOID:12108 {source="MONDO:equivalentTo"}
xref: ICD9:361.12 {source="DOID:12108", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:576202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:65545003 {source="DOID:12108", source="MONDO:equivalentTo"}
xref: UMLS:C0344289 {source="MEDGEN:576202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004579 {source="DOID:12108"} ! retinoschisis

[Term]
id: MONDO:0001436
name: hemosiderosis
def: "Accumulation of iron in internal organs." [NCIT:C82892]
subset: otar {source="MONDO:OTAR"}
synonym: "haemosiderosis" EXACT [DOID:12119]
xref: DOID:12119 {source="MONDO:equivalentTo"}
xref: MEDGEN:42409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006486 {source="DOID:12119", source="MONDO:equivalentTo"}
xref: MESH:D019190 {source="DOID:12119"}
xref: NCIT:C82892 {source="DOID:12119", source="MONDO:equivalentTo", source="NCIT:C82892"}
xref: SCTID:190849009 {source="DOID:12119"}
xref: SCTID:39011001 {source="DOID:12119", source="MONDO:equivalentTo"}
xref: UMLS:C0019114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42409"}
is_a: MONDO:0002279 {source="DOID:12119", source="MESH:D006486/inferred"} ! iron metabolism disease
is_a: MONDO:0005066 {source="DOID:12119/inferred", source="MESH:D006486/inferred", source="MONDO:Redundant", source="NCIT:C82892"} ! metabolic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis" xsd:anyURI {source="GARD:0006595"}

[Term]
id: MONDO:0001437
name: pulmonary alveolar proteinosis
def: "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever." [NCIT:C85037]
subset: otar {source="MONDO:OTAR"}
synonym: "PAP" BROAD ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "pulmonary alveolar proteinosis" EXACT [NCIT:C85037]
xref: DOID:12120 {source="MONDO:equivalentTo"}
xref: ICD10CM:J84.01 {source="DOID:12120"}
xref: ICD9:516.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12120"}
xref: MEDGEN:1763046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011649 {source="MONDO:equivalentTo", source="DOID:12120"}
xref: NANDO:1200746 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85037 {source="MONDO:equivalentTo", source="DOID:12120"}
xref: Orphanet:264675 {source="DOID:12120"}
xref: SCTID:10501004 {source="MONDO:equivalentTo", source="DOID:12120"}
xref: UMLS:C5400698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1763046"}
is_a: MONDO:0005275 {source="DOID:12120", source="MESH:D011649", source="MONDO:Entailed", source="NCIT:C85037/inferred"} ! lung disorder
relationship: disease_disrupts GO:0007585 ! respiratory gaseous exchange by respiratory system
relationship: disease_has_location CL:0002063 {source="https://orcid.org/0000-0002-6601-2165"} ! pulmonary alveolar type 2 cell
relationship: disease_has_major_feature HP:0006517 ! Intraalveolar phospholipid accumulation

[Term]
id: MONDO:0001438
name: postinflammatory pulmonary fibrosis
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "post-inflammatory pulmonary fibrosis" EXACT [DOID:12123]
synonym: "postinflammatory pulmonary fibrosis" EXACT [DOID:12123]
xref: DOID:12123 {source="MONDO:equivalentTo"}
xref: ICD10CM:J84.10 {source="DOID:12123"}
xref: ICD9:515 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12123"}
xref: MEDGEN:511625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196121006 {source="DOID:12123"}
xref: SCTID:266368002 {source="MONDO:equivalentTo", source="DOID:12123"}
xref: SCTID:57124002 {source="DOID:12123"}
xref: UMLS:C0175999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:511625"}
is_a: MONDO:0002771 {source="DOID:12123", source="MONDO:Redundant"} ! pulmonary fibrosis
intersection_of: MONDO:0002771 ! pulmonary fibrosis
intersection_of: disease_arises_from_feature MONDO:0021166 ! inflammatory disease

[Term]
id: MONDO:0001439
name: episcleritis periodica fugax
xref: DOID:12124 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.11 {source="DOID:12124"}
xref: ICD9:379.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12124"}
xref: MEDGEN:509926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194141004 {source="DOID:12124"}
xref: SCTID:31166000 {source="MONDO:equivalentTo", source="DOID:12124"}
xref: UMLS:C0155351 {source="MEDGEN:509926", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001269 {source="DOID:12124"} ! scleral disorder

[Term]
id: MONDO:0001440
name: neurotrophic keratoconjunctivitis
xref: DOID:12125 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.23 {source="DOID:12125"}
xref: ICD9:370.35 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12125"}
xref: MEDGEN:509777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193777005 {source="DOID:12125"}
xref: SCTID:77080005 {source="MONDO:equivalentTo", source="DOID:12125"}
xref: UMLS:C0155084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509777"}
is_a: MONDO:0004768 {source="DOID:12125"} ! keratoconjunctivitis

[Term]
id: MONDO:0001441
name: pica disease
def: "An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development." [NCIT:P378]
synonym: "Pica" EXACT [NCIT:C92566]
synonym: "Pica eating disorder" EXACT [NCIT:C92566]
xref: DOID:12128 {source="MONDO:equivalentTo"}
xref: ICD9:307.52 {source="DOID:12128"}
xref: MEDGEN:45917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010842 {source="DOID:12128", source="MONDO:equivalentTo"}
xref: NCIT:C92566 {source="DOID:12128", source="MONDO:equivalentTo"}
xref: SCTID:14077003 {source="DOID:12128", source="MONDO:equivalentTo"}
xref: SCTID:154938001 {source="DOID:12128"}
xref: SCTID:268779001 {source="DOID:12128"}
xref: UMLS:C0031873 {source="MEDGEN:45917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005451 {source="DOID:12128"} ! eating disorder

[Term]
id: MONDO:0001442
name: dysthymic disorder
def: "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dysthymia" EXACT [DOID:12139]
xref: DOID:12139 {source="MONDO:equivalentTo"}
xref: EFO:0008623 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F34.1 {source="DOID:12139", source="MONDO:equivalentTo"}
xref: ICD9:300.4 {source="DOID:12139", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:8517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019263 {source="DOID:12139", source="MONDO:equivalentTo"}
xref: NCIT:C34562 {source="DOID:12139", source="MONDO:equivalentTo"}
xref: SCTID:192384008 {source="DOID:12139"}
xref: SCTID:78667006 {source="DOID:12139", source="MONDO:equivalentTo"}
xref: UMLS:C0013415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8517"}
is_a: MONDO:0005371 {source="DOID:12139", source="EFO:0008623", source="ICD10CM:F34.1/inferred", source="MESH:D019263/inferred", source="NCIT:C34562"} ! mood disorder

[Term]
id: MONDO:0001443
name: tympanosclerosis
def: "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing." [MESH:D063371]
xref: DOID:1214 {source="MONDO:equivalentTo"}
xref: ICD10CM:H74.0 {source="MONDO:equivalentTo"}
xref: ICD9:385.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:385.09 {source="MONDO:relatedTo", source="DOID:1214", source="MONDO:i2s"}
xref: MEDGEN:473094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D063371 {source="MONDO:equivalentTo"}
xref: SCTID:111540000 {source="DOID:1214"}
xref: SCTID:23606001 {source="MONDO:equivalentTo"}
xref: UMLS:C0395887 {source="MEDGEN:473094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003648 {source="DOID:1214"} ! tympanic membrane disorder

[Term]
id: MONDO:0001444
name: Chagas disease
def: "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." [NCIT:C84629]
subset: gard_rare {source="GARD:18795", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3386"}
subset: orphanet_rare {source="Orphanet:3386"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "American trypanosomiasis" RELATED [DOID:12140]
synonym: "Chagas disease" EXACT [Orphanet:3386]
synonym: "Chagas' disease" EXACT [DOID:12140]
synonym: "Chagas' disease with digestive system involvement" EXACT [DOID:12140]
synonym: "Chagas' disease with nervous system involvement" EXACT [DOID:12140]
synonym: "Chagas' disease with other organ involvement" EXACT [DOID:12140]
synonym: "Chagas-mazza disease" RELATED []
synonym: "infection by trypanosoma cruzi" EXACT []
synonym: "infection caused by trypanosoma cruzi" RELATED []
synonym: "south American trypanosomiasis" RELATED []
synonym: "Trypanosoma cruzi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trypanosoma cruzi disease or disorder" EXACT []
synonym: "Trypanosoma cruzi infectious disease" EXACT []
xref: DOID:12140 {source="MONDO:equivalentTo"}
xref: GARD:18795 {source="MONDO:GARD"}
xref: ICD10CM:B57 {source="MONDO:equivalentTo"}
xref: ICD10CM:B57.0 {source="Orphanet:3386", source="Orphanet:3386/btnt"}
xref: ICD10CM:B57.1 {source="Orphanet:3386", source="Orphanet:3386/btnt"}
xref: ICD10CM:B57.2 {source="Orphanet:3386", source="Orphanet:3386/btnt"}
xref: ICD10CM:B57.3 {source="Orphanet:3386", source="Orphanet:3386/btnt"}
xref: ICD10CM:B57.4 {source="Orphanet:3386", source="Orphanet:3386/btnt"}
xref: ICD10CM:B57.5 {source="Orphanet:3386", source="Orphanet:3386/btnt"}
xref: ICD9:086.2 {source="DOID:12140"}
xref: MedDRA:10001935 {source="Orphanet:3386", source="Orphanet:3386/e"}
xref: MEDGEN:11935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014355 {source="MONDO:equivalentTo"}
xref: NCIT:C84629 {source="MONDO:equivalentTo"}
xref: Orphanet:3386 {source="MONDO:equivalentTo"}
xref: SCTID:186817003 {source="DOID:12140"}
xref: SCTID:54570006 {source="DOID:12140"}
xref: SCTID:77506005 {source="MONDO:equivalentTo"}
xref: SCTID:94371000119107 {source="DOID:12140"}
xref: UMLS:C0041234 {source="MEDGEN:11935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000940 {source="DOID:12140", source="EFO:0008559", source="MESH:D014355", source="MONDO:Redundant"} ! trypanosomiasis
is_a: MONDO:0005135 {source="DOID:12140/inferred", source="EFO:0008559/inferred", source="MESH:D014355/inferred", source="MONDO:Redundant", source="NCIT:C84629", source="Orphanet:3386"} ! parasitic infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5693 ! Trypanosoma cruzi
relationship: disease_has_infectious_agent NCBITaxon:5693 {source="MONDO:Wikidata"} ! Trypanosoma cruzi
relationship: disease_has_infectious_agent NCBITaxon:70999 {source="MONDO:Wikidata"} ! Triatominae
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0001445
name: obsolete neurogenic bladder
def: "OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy)." [NCIT:P378]
synonym: "neurogenic bladder" EXACT [MONDO:ambiguous]
synonym: "neurogenic dysfunction of the urinary bladder" EXACT [DOID:12143]
synonym: "neurogenic urinary bladder disorder" EXACT [DOID:12143]
synonym: "neuropathic bladder" EXACT [DOID:12143]
synonym: "obsolete neurogenic bladder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12143 {source="MONDO:obsoleteEquivalent"}
xref: HP:0000011 {source="MONDO:otherHierarchy"}
xref: ICD9:596.54 {source="DOID:12143"}
xref: MESH:D001750 {source="MONDO:obsoleteEquivalent", source="DOID:12143"}
xref: NCIT:C79696 {source="MONDO:otherHierarchy", source="DOID:12143"}
xref: SCTID:155032006 {source="DOID:12143"}
xref: SCTID:192972000 {source="DOID:12143"}
xref: SCTID:197883004 {source="DOID:12143"}
xref: SCTID:23201000 {source="DOID:12143"}
xref: SCTID:397732007 {source="DOID:12143"}
xref: SCTID:398064005 {source="MONDO:obsoleteEquivalent", source="DOID:12143"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/974" xsd:anyURI
property_value: IAO:0000589 "obsolete neurogenic bladder (disease)" xsd:string
is_obsolete: true
consider: HP:0000011

[Term]
id: MONDO:0001446
name: low compliance bladder
synonym: "hyperactivity of bladder" EXACT [DOID:12144]
synonym: "hypertonic bladder" EXACT [DOID:12144]
synonym: "hypertonicity of bladder" EXACT [DOID:12144, ICD9CM:596.51]
synonym: "low bladder compliance" EXACT [DOID:12144, ICD9CM:596.52]
xref: DOID:12144 {source="MONDO:equivalentTo"}
xref: ICD9:596.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12144"}
xref: MEDGEN:635444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:9009001 {source="MONDO:equivalentTo", source="DOID:12144"}
xref: UMLS:C0489967 {source="MEDGEN:635444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006026 {source="DOID:12144"} ! urinary bladder disorder

[Term]
id: MONDO:0001447
name: detrusor sphincter dyssynergia
synonym: "detrusor sphincter dyssynergia" EXACT [MONDO:ambiguous]
synonym: "detrusor sphincter dyssynergia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12145 {source="MONDO:equivalentTo"}
xref: HP:0025488 {source="MONDO:otherHierarchy"}
xref: ICD9:596.55 {source="DOID:12145"}
xref: MEDGEN:574618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:236655005 {source="MONDO:equivalentTo", source="DOID:12145"}
xref: UMLS:C0341747 {source="MEDGEN:574618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006026 {source="DOID:12145"} ! urinary bladder disorder
property_value: IAO:0000589 "detrusor sphincter dyssynergia (disease)" xsd:string

[Term]
id: MONDO:0001448
name: obsolete alveolar echinococcosis
is_obsolete: true
replaced_by: MONDO:0017282

[Term]
id: MONDO:0001449
name: lymphocytic choriomeningitis
def: "A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" [MESH:D008216]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LCM" EXACT ABBREVIATION [DOID:12155]
synonym: "lymphocytic choriomeningitis mammarenavirus caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "lymphocytic choriomeningitis mammarenavirus infectious meningitis" EXACT []
synonym: "lymphocytic choriomeningitis virus encephalomyelitis" EXACT [DOID:12155]
synonym: "lymphocytic meningitis" BROAD [DOID:12155]
synonym: "lymphocytic meningoencephalitis" EXACT [DOID:12155]
xref: DOID:12155 {source="MONDO:equivalentTo"}
xref: ICD10CM:A87.2 {source="MONDO:equivalentTo", source="DOID:12155"}
xref: ICD9:049.0 {source="DOID:12155"}
xref: MEDGEN:44220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008216 {source="MONDO:equivalentTo", source="DOID:12155"}
xref: SCTID:186495001 {source="DOID:12155"}
xref: SCTID:192668002 {source="DOID:12155"}
xref: SCTID:276064006 {source="DOID:12155"}
xref: SCTID:276817007 {source="DOID:12155"}
xref: SCTID:38666007 {source="DOID:12155"}
xref: SCTID:397961002 {source="DOID:12155"}
xref: SCTID:398136003 {source="DOID:12155"}
xref: UMLS:C0024266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44220"}
is_a: MONDO:0005108 {source="DOID:12155", source="MESH:D008216/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! viral infectious disease
is_a: MONDO:0007015 {source="ICD10CM:A87.2", source="https://orcid.org/0000-0001-5208-3432"} ! viral meningitis
intersection_of: MONDO:0007015 ! viral meningitis
intersection_of: MONDO:0100332 NCBITaxon:3052303 ! disease has primary infectious agent Mammarenavirus choriomeningitidis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: transmitted_by NCBITaxon:10090 ! Mus musculus

[Term]
id: MONDO:0001450
name: obsolete arachnoiditis
is_obsolete: true
replaced_by: MONDO:0015304

[Term]
id: MONDO:0001451
name: peripheral retinal degeneration
def: "Degeneration of the peripheral retina." [NCIT:C34919]
synonym: "peripheral degeneration of retina" EXACT [DOID:12161]
synonym: "peripheral retinal Degeneration" EXACT [NCIT:C34919]
xref: DOID:12161 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.4 {source="MONDO:equivalentTo", source="DOID:12161"}
xref: ICD10CM:H35.40 {source="DOID:12161"}
xref: ICD9:362.6 {source="DOID:12161"}
xref: ICD9:362.60 {source="DOID:12161"}
xref: MEDGEN:232938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34919 {source="MONDO:equivalentTo", source="DOID:12161"}
xref: SCTID:193393004 {source="DOID:12161"}
xref: SCTID:193394005 {source="DOID:12161"}
xref: SCTID:193398008 {source="DOID:12161"}
xref: SCTID:405721006 {source="MONDO:equivalentTo", source="DOID:12161"}
xref: SCTID:61536007 {source="DOID:12161"}
xref: SCTID:95704002 {source="DOID:12161"}
xref: UMLS:C1320640 {source="MEDGEN:232938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="DOID:12161", source="NCIT:C34919"} ! retinal degeneration

[Term]
id: MONDO:0001452
name: pseudoretinitis pigmentosa
synonym: "secondary pigmentary degeneration of retina" EXACT [DOID:12162, ICD9CM:362.65]
synonym: "secondary pigmentary retinal degeneration" EXACT [DOID:12162]
xref: DOID:12162 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.45 {source="DOID:12162"}
xref: ICD9:362.65 {source="DOID:12162"}
xref: MEDGEN:781175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193396007 {source="MONDO:equivalentTo"}
xref: SCTID:35545005 {source="DOID:12162"}
xref: UMLS:C2053820 {source="MEDGEN:781175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001451 {source="DOID:12162"} ! peripheral retinal degeneration

[Term]
id: MONDO:0001453
name: senile reticular retinal degeneration
synonym: "Senile reticular degeneration of retina" EXACT [DOID:12163, ICD9CM:362.64]
xref: DOID:12163 {source="MONDO:equivalentTo"}
xref: ICD9:362.64 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12163"}
xref: MEDGEN:509687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193395006 {source="DOID:12163"}
xref: SCTID:54184008 {source="MONDO:equivalentTo", source="DOID:12163"}
xref: UMLS:C0154857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509687"}
is_a: MONDO:0001451 {source="DOID:12163"} ! peripheral retinal degeneration

[Term]
id: MONDO:0001454
name: Blessig's cysts
synonym: "Blessig cysts" EXACT [DOID:12164]
synonym: "Iwanoff's cysts" EXACT [DOID:12164]
synonym: "Microcystoid degeneration of retina" EXACT [DOID:12164, ICD9CM:362.62]
synonym: "Microcystoid retinal degeneration" EXACT [DOID:12164]
xref: DOID:12164 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.42 {source="DOID:12164"}
xref: ICD9:362.62 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12164"}
xref: MEDGEN:509686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:37075008 {source="MONDO:equivalentTo", source="DOID:12164"}
xref: UMLS:C0154855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509686"}
is_a: MONDO:0001451 {source="DOID:12164"} ! peripheral retinal degeneration

[Term]
id: MONDO:0001455
name: retinal lattice degeneration
synonym: "palisade degeneration of retina" EXACT [DOID:12165, ICD9CM:362.63]
xref: DOID:12165 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.41 {source="DOID:12165"}
xref: ICD9:362.63 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12165"}
xref: MEDGEN:102321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:3577000 {source="MONDO:equivalentTo", source="DOID:12165"}
xref: UMLS:C0154856 {source="MEDGEN:102321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001451 {source="DOID:12165"} ! peripheral retinal degeneration

[Term]
id: MONDO:0001456
name: cobblestone retinal degeneration
synonym: "paving stone degeneration of retina" EXACT [DOID:12166, ICD9CM:362.61]
synonym: "paving stone retinal degeneration" EXACT [DOID:12166]
xref: DOID:12166 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.43 {source="DOID:12166"}
xref: ICD9:362.61 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12166"}
xref: MEDGEN:509685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:69134001 {source="MONDO:equivalentTo", source="DOID:12166"}
xref: UMLS:C0154854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509685"}
is_a: MONDO:0001451 {source="DOID:12166"} ! peripheral retinal degeneration

[Term]
id: MONDO:0001457
name: secondary vitreoretinal degeneration
xref: DOID:12167 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.46 {source="DOID:12167"}
xref: ICD9:362.66 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12167"}
xref: MEDGEN:509689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193397003 {source="DOID:12167"}
xref: SCTID:60676002 {source="MONDO:equivalentTo", source="DOID:12167"}
xref: UMLS:C0154859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509689"}
is_a: MONDO:0001451 {source="DOID:12167"} ! peripheral retinal degeneration

[Term]
id: MONDO:0001458
name: ulnar nerve lesion
def: "A peripheral nerve lesion that involves the ulnar nerve." [MONDO:patterns/location]
comment: Editor note: todo DP for lesions
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lesion of ulnar nerve" EXACT [DOID:12168, ICD9CM:354.2]
synonym: "peripheral nerve lesion of ulnar nerve" EXACT [MONDO:design_pattern]
synonym: "ulnar nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:12168 {source="MONDO:equivalentTo"}
xref: ICD10CM:G56.2 {source="DOID:12168"}
xref: ICD10CM:G56.20 {source="DOID:12168"}
xref: ICD9:354.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12168"}
xref: MEDGEN:710723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193132000 {source="DOID:12168"}
xref: SCTID:193136002 {source="DOID:12168"}
xref: SCTID:267599007 {source="DOID:12168"}
xref: SCTID:298121002 {source="DOID:12168"}
xref: SCTID:359834003 {source="DOID:12168"}
xref: SCTID:367475009 {source="MONDO:equivalentTo", source="DOID:12168"}
xref: SCTID:55802003 {source="DOID:12168"}
xref: UMLS:C1288279 {source="MEDGEN:710723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007006 {source="https://orcid.org/0000-0002-6601-2165"} ! ulnar neuropathy
intersection_of: MONDO:0024334 ! peripheral nerve lesion
intersection_of: disease_has_location UBERON:0001494 ! ulnar nerve
relationship: excluded_subClassOf MONDO:0003607 {source="DOID:12168", source="https://orcid.org/0000-0001-5208-3432"} ! neuritis of upper limb

[Term]
id: MONDO:0001459
name: radial neuropathy
def: "Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus." [MESH:D020425]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peripheral neuropathy of radial nerve" EXACT [MONDO:design_pattern]
synonym: "radial nerve peripheral neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:12171 {source="MONDO:equivalentTo"}
xref: MEDGEN:148185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020425 {source="DOID:12171", source="MONDO:equivalentTo"}
xref: SCTID:16644004 {source="DOID:12171", source="MONDO:equivalentTo"}
xref: UMLS:C0748226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148185"}
is_a: MONDO:0001397 {source="DOID:12171", source="MESH:D020425"} ! mononeuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_has_location UBERON:0001492 ! radial nerve

[Term]
id: MONDO:0001460
name: dyshormonogenic goiter
xref: DOID:12175 {source="MONDO:equivalentTo"}
xref: ICD10CM:E07.1 {source="DOID:12175"}
xref: ICD9:246.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12175"}
xref: MEDGEN:508873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190304001 {source="MONDO:equivalentTo", source="DOID:12175"}
xref: UMLS:C0152077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508873"}
is_a: MONDO:0005397 {source="DOID:12175"} ! goiter

[Term]
id: MONDO:0001461
name: tinea corporis
def: "A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin." [https://doi.org/10.1016/B978-0-323-29634-2.00017-1]
synonym: "dermatophytosis of the body" EXACT [DOID:12179]
synonym: "dermatophytosis of the trunk" EXACT [DOID:12179]
xref: DOID:12179 {source="MONDO:equivalentTo"}
xref: ICD10CM:B35.4 {source="MONDO:equivalentTo"}
xref: ICD9:110.5 {source="DOID:12179"}
xref: MEDGEN:508197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186994008 {source="DOID:12179"}
xref: SCTID:266151007 {source="DOID:12179"}
xref: SCTID:84849002 {source="MONDO:equivalentTo", source="DOID:12179"}
xref: UMLS:C0040252 {source="MEDGEN:508197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004678 {source="DOID:12179", source="ICD10CM:B35.4", source="https://doi.org/10.1016/B978-0-323-29634-2.00017-1"} ! dermatophytosis
is_a: MONDO:0005093 {source="DOID:12179", source="MONDO:Redundant"} ! skin disorder
relationship: disease_has_feature HP:0000988 ! Skin rash

[Term]
id: MONDO:0001462
name: descending colon cancer
def: "A malignant neoplasm involving the descending colon." [https://orcid.org/0000-0002-6601-2165]
synonym: "Ca descending colon" EXACT [DOID:12190]
synonym: "cancer of descending colon" EXACT [MONDO:patterns/cancer]
synonym: "descending colon cancer" EXACT [MONDO:patterns/location]
synonym: "malignant descending colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of descending colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of left colon" EXACT [DOID:12190]
synonym: "malignant tumor of descending colon" EXACT [DOID:12190]
synonym: "malignant tumour of descending colon" EXACT OMO:0003005 []
xref: DOID:12190 {source="MONDO:equivalentTo"}
xref: ICD10CM:C18.6 {source="DOID:12190"}
xref: ICD9:153.2 {source="DOID:12190", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154457003 {source="DOID:12190"}
xref: SCTID:269536008 {source="DOID:12190"}
xref: SCTID:363409003 {source="DOID:12190", source="MONDO:equivalentTo"}
xref: SCTID:93771007 {source="DOID:12190"}
xref: UMLS:C0153435 {source="MEDGEN:509291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021063 {source="DOID:12190", source="MONDO:Redundant"} ! malignant colon neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001158 ! descending colon

[Term]
id: MONDO:0001463
name: splenic flexure cancer
def: "A malignant neoplasm involving the splenic flexure of colon." [https://orcid.org/0000-0002-6601-2165]
synonym: "Ca splenic flexure - colon" EXACT [DOID:12191]
synonym: "cancer of splenic flexure of colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of splenic flexure" EXACT [DOID:12191, ICD9CM:153.7]
synonym: "malignant neoplasm of splenic flexure of colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant splenic flexure of colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of splenic flexure" EXACT [DOID:12191]
synonym: "malignant tumour of splenic flexure" EXACT OMO:0003005 []
synonym: "splenic flexure of colon cancer" EXACT [MONDO:patterns/location]
xref: DOID:12191 {source="MONDO:equivalentTo"}
xref: ICD10CM:C18.5 {source="DOID:12191"}
xref: ICD9:153.7 {source="DOID:12191", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154461009 {source="DOID:12191"}
xref: SCTID:269540004 {source="DOID:12191"}
xref: SCTID:363413005 {source="DOID:12191", source="MONDO:equivalentTo"}
xref: SCTID:94072004 {source="DOID:12191"}
xref: UMLS:C0153440 {source="MEDGEN:509294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001462 {source="DOID:12191"} ! descending colon cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0022276 ! splenic flexure of colon

[Term]
id: MONDO:0001464
name: sigmoid colon cancer
def: "A malignant neoplasm involving the sigmoid colon." [https://orcid.org/0000-0002-6601-2165]
synonym: "Ca sigmoid colon" EXACT [DOID:12192]
synonym: "cancer of sigmoid colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sigmoid colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant sigmoid colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of sigmoid colon" EXACT [DOID:12192]
synonym: "malignant tumour of sigmoid colon" EXACT OMO:0003005 []
synonym: "sigmoid colon cancer" EXACT [MONDO:patterns/location]
xref: DOID:12192 {source="MONDO:equivalentTo"}
xref: ICD10CM:C18.7 {source="DOID:12192"}
xref: ICD9:153.3 {source="DOID:12192", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154458008 {source="DOID:12192"}
xref: SCTID:269537004 {source="DOID:12192"}
xref: SCTID:363410008 {source="DOID:12192", source="MONDO:equivalentTo"}
xref: SCTID:94006002 {source="DOID:12192"}
xref: UMLS:C0153436 {source="MEDGEN:509292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006971 {source="MONDO:Redundant"} ! sigmoid neoplasm
is_a: MONDO:0021063 {source="DOID:12192", source="MONDO:Redundant"} ! malignant colon neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001159 ! sigmoid colon

[Term]
id: MONDO:0001465
name: superficial keratitis
xref: DOID:12196 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.10 {source="DOID:12196"}
xref: ICD9:370.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12196"}
xref: MEDGEN:509771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193766004 {source="DOID:12196"}
xref: SCTID:27019000 {source="MONDO:equivalentTo", source="DOID:12196"}
xref: UMLS:C0155074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509771"}
is_a: MONDO:0003085 {source="DOID:12196"} ! keratitis

[Term]
id: MONDO:0001466
name: punctate epithelial keratoconjunctivitis
synonym: "punctate keratitis" EXACT [DOID:12197, ICD9CM:370.21]
synonym: "Thygeson superficial punctate keratitis" EXACT [DOID:12197]
synonym: "Thygeson's superficial punctate keratitis" EXACT [DOID:12197]
xref: DOID:12197 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.14 {source="DOID:12197"}
xref: ICD9:370.21 {source="DOID:12197"}
xref: MEDGEN:736733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193767008 {source="DOID:12197"}
xref: SCTID:267634006 {source="DOID:12197"}
xref: SCTID:416069001 {source="MONDO:equivalentTo", source="DOID:12197"}
xref: SCTID:42513006 {source="DOID:12197"}
xref: UMLS:C1562761 {source="MEDGEN:736733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001465 {source="DOID:12197"} ! superficial keratitis
is_a: MONDO:0004768 {source="DOID:12197"} ! keratoconjunctivitis

[Term]
id: MONDO:0001467
name: obsolete specific bursitis often of occupational origin
synonym: "specific bursitides often of occupational origin" EXACT [DOID:12223, ICD9CM:727.2]
xref: DOID:12223 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:727.2 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:12223"}
xref: SCTID:42812006 {source="MONDO:obsoleteEquivalent", source="DOID:12223"}
is_obsolete: true

[Term]
id: MONDO:0001468
name: synovial plica syndrome
synonym: "plica syndrome" EXACT []
synonym: "synovial plica of knee" EXACT []
xref: DOID:12225 {source="MONDO:equivalentTo"}
xref: ICD10CM:M67.5 {source="DOID:12225"}
xref: ICD9:727.83 {source="DOID:12225"}
xref: ICD9:727.9 {source="MONDO:i2s"}
xref: MEDGEN:640475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:240171001 {source="MONDO:equivalentTo"}
xref: UMLS:C0554601 {source="MEDGEN:640475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:12225"} ! arthropathy
relationship: disease_has_location UBERON:0001465 ! knee
relationship: disease_has_location UBERON:0002018 ! synovial membrane of synovial joint

[Term]
id: MONDO:0001469
name: cascade stomach
synonym: "hourglass stricture or stenosis of stomach" EXACT [DOID:12234, ICD9CM:537.6]
xref: DOID:12234 {source="MONDO:equivalentTo"}
xref: ICD10CM:K31.2 {source="DOID:12234"}
xref: ICD9:537.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12234"}
xref: MEDGEN:540460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:54051005 {source="MONDO:equivalentTo", source="DOID:12234"}
xref: UMLS:C0267183 {source="MEDGEN:540460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004298 {source="DOID:12234"} ! stomach disorder

[Term]
id: MONDO:0001470
name: anal margin squamous cell carcinoma
def: "A squamous cell carcinoma arising from the perianal skin." [NCIT:C6925]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal margin squamous cell carcinoma" EXACT [NCIT:C6925]
synonym: "perianal skin squamous cell carcinoma" EXACT [DOID:12239, MONDO:patterns/location, NCIT:C6925]
synonym: "squamous cell carcinoma of anal margin" EXACT [DOID:12239, NCIT:C6925]
synonym: "squamous cell carcinoma of the anal margin" EXACT [NCIT:C6925]
xref: DOID:12239 {source="MONDO:equivalentTo"}
xref: ICD10CM:C44.520 {source="DOID:12239"}
xref: ICD9:173.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:278071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6925 {source="DOID:12239", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:255084004 {source="DOID:12239", source="MONDO:equivalentTo"}
xref: UMLS:C1412037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:278071"}
is_a: MONDO:0002529 {source="DOID:12239", source="MONDO:Redundant"} ! skin squamous cell carcinoma
is_a: MONDO:0002941 {source="DOID:12239", source="MONDO:Redundant", source="NCIT:C6925"} ! anal margin carcinoma
is_a: MONDO:0006082 {source="MONDO:Redundant", source="NCIT:C6925"} ! anal squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0012336 ! perianal skin

[Term]
id: MONDO:0001471
name: histoplasmosis meningitis
def: "An infectious meningitis caused by infection with Histoplasma capsulatum." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Histoplasma capsulatum caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum infectious meningitis" EXACT []
synonym: "histoplasmosis with meningitis" EXACT [DOID:12246]
xref: DOID:12246 {source="MONDO:equivalentTo"}
xref: ICD9:115.91 {source="DOID:12246"}
xref: MEDGEN:509239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187057005 {source="DOID:12246"}
xref: UMLS:C0153277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509239"}
is_a: MONDO:0006764 {source="DOID:12246", source="MONDO:Entailed", source="MONDO:Redundant"} ! fungal meningitis
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:5037 ! Histoplasma capsulatum

[Term]
id: MONDO:0001472
name: testicular lymphoma
def: "A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site." [NCIT:C6810]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoma of testis" EXACT [NCIT:C6810]
synonym: "lymphoma of the testis" EXACT [DOID:12253]
synonym: "malignant lymphoma of testis" EXACT [DOID:12253]
synonym: "primary testicular lymphoma" EXACT [NCIT:C6810]
synonym: "testicular lymphoma" EXACT [DOID:12253, NCIT:C6810]
synonym: "TLYM" RELATED ABBREVIATION [ONCOTREE:TLYM]
xref: DOID:12253 {source="MONDO:equivalentTo"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6810 {source="MONDO:equivalentTo", source="DOID:12253", source="MONDO:exact-label-match"}
xref: ONCOTREE:TLYM {source="MONDO:equivalentTo"}
xref: SCTID:277664004 {source="MONDO:equivalentTo", source="DOID:12253"}
xref: UMLS:C0349644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138110"}
is_a: MONDO:0005447 {source="DOID:12253", source="NCIT:C6810"} ! testicular cancer
is_a: MONDO:0006055 {source="https://www.ncbi.nlm.nih.gov/books/NBK558916"} ! sex cord-stromal tumor

[Term]
id: MONDO:0001473
name: medulloadrenal hyperfunction
xref: DOID:12257 {source="MONDO:equivalentTo"}
xref: ICD10CM:E27.5 {source="DOID:12257"}
xref: ICD9:255.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12257"}
xref: MEDGEN:509543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111565003 {source="MONDO:equivalentTo", source="DOID:12257"}
xref: UMLS:C0154206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509543"}
is_a: MONDO:0005495 {source="DOID:12257"} ! adrenal gland disorder

[Term]
id: MONDO:0001474
name: chronic salpingo-oophoritis
def: "Chronic form of salpingo-oophoritis." [MONDO:patterns/chronic]
synonym: "chronic salpingitis and oophoritis" EXACT [DOID:12265, ICD9CM:614.1]
synonym: "chronic salpingitis/oophoritis" EXACT [DOID:12265]
synonym: "chronic salpingo-oophoritis" EXACT [DOID:12265]
synonym: "salpingo-oophoritis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:12265 {source="MONDO:equivalentTo"}
xref: ICD10CM:N70.1 {source="DOID:12265"}
xref: ICD10CM:N70.13 {source="DOID:12265"}
xref: ICD9:614.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12265"}
xref: MEDGEN:510244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155970008 {source="DOID:12265"}
xref: SCTID:198140009 {source="DOID:12265"}
xref: SCTID:198142001 {source="MONDO:equivalentTo", source="DOID:12265"}
xref: SCTID:198146003 {source="DOID:12265"}
xref: SCTID:266649009 {source="DOID:12265"}
xref: UMLS:C0156328 {source="MEDGEN:510244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001172 {source="DOID:12265", source="MONDO:Redundant"} ! salpingo-oophoritis
is_a: MONDO:0003617 {source="MONDO:Redundant"} ! chronic salpingitis
intersection_of: MONDO:0001172 ! salpingo-oophoritis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001475
name: neutropenia
def: "A decrease in the number of neutrophils found in the blood." [MESH:D009503]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutropenia" EXACT CLINGEN_LABEL []
synonym: "neutropenic disorder" EXACT []
xref: DOID:1227 {source="MONDO:equivalentTo"}
xref: HP:0001875 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D70 {source="DOID:1227"}
xref: ICD10CM:D70.9 {source="DOID:1227"}
xref: ICD9:288.0 {source="DOID:1227"}
xref: ICD9:288.00 {source="DOID:1227"}
xref: MEDGEN:163121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009503 {source="MONDO:equivalentTo", source="DOID:1227"}
xref: SCTID:142928004 {source="DOID:1227"}
xref: SCTID:191336001 {source="DOID:1227"}
xref: SCTID:303011007 {source="MONDO:equivalentTo", source="DOID:1227"}
xref: SCTID:72885007 {source="DOID:1227"}
xref: UMLS:C0853697 {source="MEDGEN:163121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001609 {source="DOID:1227", source="MESH:D009503"} ! agranulocytosis

[Term]
id: MONDO:0001476
name: coloboma
def: "An abnormality in which a part of a structure in one or both eyes is missing." [NCIT:P378]
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "coloboma of eye" EXACT [DOID:12270]
synonym: "coloboma of macula" NARROW [DOID:12270]
synonym: "coloboma of the eye" EXACT [NCIT:C98877]
synonym: "congenital ocular coloboma" NARROW [DOID:12270]
synonym: "ocular coloboma" EXACT [Orphanet:194]
xref: DOID:12270 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q13.0 {source="DOID:12270"}
xref: ICD9:743.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003103 {source="DOID:12270", source="MONDO:equivalentTo"}
xref: NCIT:C98877 {source="DOID:12270", source="MONDO:equivalentTo"}
xref: Orphanet:194 {source="MONDO:equivalentObsolete"}
xref: Orphanet:98945 {source="DOID:12270"}
xref: SCTID:92828000 {source="DOID:12270"}
xref: SCTID:93390002 {source="DOID:12270", source="MONDO:equivalentTo"}
xref: UMLS:C0009363 {source="MONDO:equivalentTo", source="MEDGEN:1046", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:12270", source="MESH:D003103/inferred", source="NCIT:C98877/inferred"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:194", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye

[Term]
id: MONDO:0001477
name: obsolete aniridia
is_obsolete: true
replaced_by: MONDO:0019172

[Term]
id: MONDO:0001478
name: anisometropia
def: "A condition of an inequality of refractive power of the two eyes." [MESH:D015858]
synonym: "anisometropia" EXACT [MONDO:ambiguous]
synonym: "anisometropia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: CSP:1116-1678 {source="DOID:12273"}
xref: DOID:12273 {source="MONDO:equivalentTo"}
xref: HP:0012803 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H52.31 {source="MONDO:equivalentTo", source="DOID:12273"}
xref: ICD9:367.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12273"}
xref: MEDGEN:8099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015858 {source="MONDO:equivalentTo", source="DOID:12273"}
xref: SCTID:3289004 {source="MONDO:equivalentTo", source="DOID:12273"}
xref: UMLS:C0003081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8099"}
is_a: MONDO:0004892 {source="DOID:12273", source="MESH:D015858"} ! refractive error
property_value: IAO:0000589 "anisometropia (disease)" xsd:string

[Term]
id: MONDO:0001479
name: cutaneous diphtheria
def: "A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous diphtheria" EXACT [DOID:12275, NCIT:C34544]
xref: DOID:12275 {source="MONDO:equivalentTo"}
xref: ICD10CM:A36.3 {source="MONDO:equivalentTo", source="DOID:12275"}
xref: ICD9:032.85 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12275"}
xref: MEDGEN:41599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34544 {source="MONDO:equivalentTo", source="DOID:12275"}
xref: SCTID:18901009 {source="MONDO:equivalentTo", source="DOID:12275"}
xref: UMLS:C0012555 {source="MEDGEN:41599", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002922 {source="DOID:12275", source="MONDO:Redundant"} ! pyoderma
is_a: MONDO:0005504 {source="ICD10CM:A36.3", source="https://orcid.org/0000-0001-5208-3432"} ! diphtheria
is_a: MONDO:0021201 {source="NCIT:C34544"} ! skin infection
relationship: disease_has_feature HP:0000999 ! Pyoderma

[Term]
id: MONDO:0001480
name: malignant tumor of undescended testis
synonym: "malignant neoplasm of retained testis" EXACT [DOID:12276]
synonym: "malignant neoplasm of undescended testis" EXACT [DOID:12276, ICD9CM:186.0]
synonym: "malignant tumor of retained testis" EXACT [DOID:12276]
synonym: "malignant tumour of retained testis" EXACT OMO:0003005 []
xref: DOID:12276 {source="MONDO:equivalentTo"}
xref: ICD10CM:C62.0 {source="DOID:12276"}
xref: ICD9:186.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12276"}
xref: MEDGEN:509335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188219004 {source="MONDO:equivalentTo", source="DOID:12276"}
xref: SCTID:188221009 {source="DOID:12276"}
xref: SCTID:188224001 {source="DOID:12276"}
xref: SCTID:94113004 {source="DOID:12276"}
xref: UMLS:C0153595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509335"}
is_a: MONDO:0005447 {source="DOID:12276"} ! testicular cancer

[Term]
id: MONDO:0001481
name: femoral vein thrombophlebitis
def: "A thrombophlebitis that involves the femoral vein." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "femoral vein thrombophlebitis" EXACT [MONDO:patterns/location]
synonym: "phlebitis and thrombophlebitis of femoral vein" EXACT [DOID:12282]
synonym: "phlebitis and thrombophlebitis of femoral vein (deep) (superficial)" EXACT [DOID:12282, ICD9CM:451.11]
synonym: "thrombophlebitis of deep femoral vein" EXACT [DOID:12282]
synonym: "thrombophlebitis of femoral vein" EXACT [MONDO:design_pattern]
synonym: "thrombophlebitis of the femoral vein" EXACT [DOID:12282]
xref: DOID:12282 {source="MONDO:equivalentTo"}
xref: ICD10CM:I80.1 {source="DOID:12282"}
xref: ICD9:451.11 {source="DOID:12282"}
xref: MEDGEN:539052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1748006 {source="MONDO:equivalentTo", source="DOID:12282"}
xref: SCTID:195410000 {source="DOID:12282"}
xref: UMLS:C0265066 {source="MEDGEN:539052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002800 {source="DOID:12282", source="MONDO:Redundant"} ! thrombophlebitis
intersection_of: MONDO:0002800 ! thrombophlebitis
intersection_of: disease_has_location UBERON:0001361 ! femoral vein

[Term]
id: MONDO:0001482
name: testicular leukemia
def: "A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03" [NCIT:C9277]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular leukemia" EXACT [NCIT:C9277]
xref: DOID:12286 {source="MONDO:equivalentTo"}
xref: MEDGEN:234941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9277 {source="MONDO:equivalentTo", source="DOID:12286", source="MONDO:exact-label-match"}
xref: UMLS:C1336711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234941"}
is_a: MONDO:0005059 {source="NCIT:C9277"} ! leukemia
is_a: MONDO:0005447 {source="DOID:12286", source="NCIT:C9277"} ! testicular cancer

[Term]
id: MONDO:0001483
name: obsolete Crimean-Congo hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0020501

[Term]
id: MONDO:0001484
name: paranoid schizophrenia
def: "A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect." [NCIT:P378]
synonym: "chronic paranoid schizophrenia" EXACT [DOID:1229]
synonym: "paranoid type schizophrenia" EXACT [DOID:1229, ICD9CM:295.3]
synonym: "paranoid type schizophrenia subchronic state" EXACT [DOID:1229]
synonym: "paraphrenia - late" EXACT [DOID:1229]
synonym: "paraphrenic schizophrenia" EXACT [DOID:1229]
xref: DOID:1229 {source="MONDO:equivalentTo"}
xref: ICD10CM:F20.0 {source="MONDO:equivalentTo", source="DOID:1229"}
xref: ICD9:295.3 {source="DOID:1229"}
xref: ICD9:295.30 {source="DOID:1229"}
xref: ICD9:295.31 {source="DOID:1229"}
xref: ICD9:295.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1229"}
xref: MEDGEN:20664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012563 {source="MONDO:equivalentTo", source="DOID:1229"}
xref: NCIT:C35006 {source="MONDO:equivalentTo", source="DOID:1229"}
xref: SCTID:154865007 {source="DOID:1229"}
xref: SCTID:154869001 {source="DOID:1229"}
xref: SCTID:191551006 {source="DOID:1229"}
xref: SCTID:191553009 {source="DOID:1229"}
xref: SCTID:191557005 {source="DOID:1229"}
xref: SCTID:192319007 {source="DOID:1229"}
xref: SCTID:192330005 {source="DOID:1229"}
xref: SCTID:268747005 {source="DOID:1229"}
xref: SCTID:268748000 {source="DOID:1229"}
xref: SCTID:31658008 {source="MONDO:equivalentTo", source="DOID:1229"}
xref: SCTID:64905009 {source="DOID:1229"}
xref: UMLS:C0036349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20664"}
is_a: MONDO:0005090 {source="DOID:1229", source="NCIT:C35006"} ! schizophrenia

[Term]
id: MONDO:0001485
name: atypical depressive disorder
def: "A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." [DOID:12294, http://en.wikipedia.org/wiki/Mood_disorder]
synonym: "atypical depression" EXACT [DOID:12294]
xref: DOID:12294 {source="MONDO:equivalentTo"}
xref: ICD10CM:F32.8 {source="DOID:12294"}
xref: ICD9:296.82 {source="DOID:12294", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:191659001 {source="DOID:12294", source="MONDO:equivalentTo"}
xref: SCTID:192371004 {source="DOID:12294"}
xref: SCTID:277538003 {source="DOID:12294"}
xref: UMLS:C0154437 {source="MONDO:equivalentTo", source="MEDGEN:509593", source="MONDO:MEDGEN"}
is_a: MONDO:0005371 {source="DOID:12294"} ! mood disorder
relationship: disease_has_feature HP:0001262 ! Excessive daytime somnolence
relationship: disease_has_feature HP:0003470 ! Paralysis
relationship: disease_has_feature HP:0100786 ! Hypersomnia

[Term]
id: MONDO:0001486
name: obsolete Vogt-Koyanagi-Harada disease
is_obsolete: true
replaced_by: MONDO:0018092

[Term]
id: MONDO:0001487
name: intrahepatic bile duct cancer
def: "A cancer that involves the intrahepatic bile duct." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ca intrahepatic bile ducts" EXACT [DOID:12298]
synonym: "cancer of intrahepatic bile duct" EXACT [MONDO:patterns/cancer]
synonym: "malignant intrahepatic bile duct neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of intrahepatic bile duct" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [DOID:12298, ICD9CM:155.1]
synonym: "malignant neoplasm of intrahepatic biliary passages" EXACT [DOID:12298]
xref: DOID:12298 {source="MONDO:equivalentTo"}
xref: ICD9:155.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12298"}
xref: MEDGEN:639748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154471006 {source="DOID:12298"}
xref: SCTID:187772002 {source="DOID:12298"}
xref: SCTID:187775000 {source="DOID:12298"}
xref: SCTID:187777008 {source="MONDO:equivalentTo", source="DOID:12298"}
xref: SCTID:187778003 {source="DOID:12298"}
xref: SCTID:269549003 {source="DOID:12298"}
xref: SCTID:93840005 {source="DOID:12298"}
xref: UMLS:C0546835 {source="MEDGEN:639748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003704 ! intrahepatic bile duct
relationship: excluded_subClassOf MONDO:0005411 {source="DOID:12298", source="https://orcid.org/0000-0001-5208-3432"} ! gallbladder cancer

[Term]
id: MONDO:0001488
name: anterior corneal pigmentation
synonym: "anterior corneal pigmentations" EXACT [DOID:12307]
xref: DOID:12307 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.01 {source="DOID:12307"}
xref: ICD9:371.11 {source="DOID:12307", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:18377001 {source="DOID:12307", source="MONDO:equivalentTo"}
xref: SCTID:193805008 {source="DOID:12307"}
xref: SCTID:270489003 {source="DOID:12307"}
xref: UMLS:C0155104 {source="MEDGEN:509790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001308 {source="DOID:12307"} ! corneal deposit

[Term]
id: MONDO:0001489
name: obsolete urticaria pigmentosa
is_obsolete: true
replaced_by: MONDO:0019316

[Term]
id: MONDO:0001490
name: corneal granular dystrophy
def: "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "granular corneal dystrophy" EXACT [DOID:12318, ICD9CM:371.53]
xref: DOID:12318 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.53 {source="DOID:12318", source="MONDO:equivalentTo"}
xref: ICD9:371.53 {source="DOID:12318", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:42290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003317 {source="DOID:12318"}
xref: NCIT:C34651 {source="DOID:12318", source="MONDO:equivalentTo"}
xref: SCTID:45283008 {source="DOID:12318", source="MONDO:equivalentTo"}
xref: UMLS:C0018179 {source="MEDGEN:42290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000764 {source="DOID:12318"} ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0003847 {source="NCIT:C34651"} ! hereditary disease
is_a: MONDO:0018102 {source="DOID:12318/inferred", source="MONDO:Redundant", source="NCIT:C34651"} ! corneal dystrophy

[Term]
id: MONDO:0001491
name: cough variant asthma
def: "An asthma that is characterized by chronic nonproductive cough without shortness of breath." [DOID:12323, http://www.aaaai.org/patients/topicofthemonth/0107/, PMID:19272144]
xref: DOID:12323 {source="MONDO:equivalentTo"}
xref: ICD10CM:J45.991 {source="MONDO:equivalentTo", source="DOID:12323"}
xref: ICD9:493.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12323"}
xref: MEDGEN:675053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:409663006 {source="MONDO:equivalentTo", source="DOID:12323"}
xref: UMLS:C0694548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:675053"}
is_a: MONDO:0004979 {source="DOID:12323", source="ICD10CM:J45.991"} ! asthma
relationship: disease_has_feature HP:0002099 ! Asthma

[Term]
id: MONDO:0001492
name: kyphoscoliotic heart disease
xref: DOID:12325 {source="MONDO:equivalentTo"}
xref: ICD10CM:I27.1 {source="DOID:12325", source="MONDO:equivalentTo"}
xref: ICD9:416.1 {source="DOID:12325", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194886003 {source="DOID:12325"}
xref: SCTID:45650007 {source="DOID:12325", source="MONDO:equivalentTo"}
xref: UMLS:C0152102 {source="MEDGEN:508888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001493 {source="DOID:12325"} ! chronic pulmonary heart disease

[Term]
id: MONDO:0001493
name: chronic pulmonary heart disease
def: "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." [NCIT:C34478]
subset: otar {source="MONDO:OTAR"}
synonym: "Cor pulmonale" BROAD [NCIT:C34478]
xref: DOID:12326 {source="MONDO:equivalentTo"}
xref: ICD9:416.8 {source="DOID:12326", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:416.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:116042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200299 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34478 {source="MONDO:equivalentTo"}
xref: SCTID:194887007 {source="DOID:12326"}
xref: SCTID:194889005 {source="DOID:12326"}
xref: SCTID:87837008 {source="MONDO:equivalentTo"}
xref: UMLS:C0238074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116042"}
is_a: MONDO:0004596 {source="DOID:12326"} ! cor pulmonale

[Term]
id: MONDO:0001494
name: obsolete transvestism
def: "OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." [NCIT:P378]
synonym: "cross dresser" EXACT [DOID:1233]
synonym: "dual-role transvestism" EXACT [DOID:1233]
synonym: "Transvestic fetishism" EXACT [DOID:1233, ICD9CM:302.3]
xref: DOID:1233 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:F64.1 {source="DOID:1233"}
xref: ICD10CM:F65.1 {source="DOID:1233"}
xref: ICD9:302.3 {source="DOID:1233"}
xref: MESH:D014190 {source="MONDO:obsoleteEquivalent", source="DOID:1233"}
xref: NCIT:C94359 {source="MONDO:obsoleteEquivalent", source="DOID:1233"}
xref: SCTID:154907002 {source="DOID:1233"}
xref: SCTID:191780004 {source="DOID:1233"}
xref: SCTID:192509002 {source="DOID:1233"}
xref: SCTID:248108005 {source="DOID:1233"}
xref: SCTID:268763002 {source="DOID:1233"}
xref: SCTID:472948001 {source="DOID:1233"}
xref: SCTID:472981000 {source="MONDO:obsoleteEquivalent", source="DOID:1233"}
xref: SCTID:472989003 {source="DOID:1233"}
xref: SCTID:63495002 {source="DOID:1233"}
is_obsolete: true

[Term]
id: MONDO:0001495
name: hematocele of tunica vaginalis testis
def: "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele." [MESH:D006398]
synonym: "hematocele" EXACT [DOID:12332]
synonym: "male hematocele" EXACT [DOID:12332]
xref: DOID:12332 {source="MONDO:equivalentTo"}
xref: MEDGEN:42386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006398 {source="MONDO:equivalentTo", source="DOID:12332"}
xref: SCTID:66259004 {source="MONDO:equivalentTo", source="DOID:12332"}
xref: UMLS:C0018931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42386"}
is_a: MONDO:0003150 {source="DOID:12332", source="MESH:D006398"} ! male reproductive system disorder

[Term]
id: MONDO:0001496
name: male genital organ stricture
synonym: "stricture of male genital organs" EXACT [DOID:12333, ICD9CM:608.85]
xref: DOID:12333 {source="MONDO:equivalentTo"}
xref: ICD9:608.85 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12333"}
xref: MEDGEN:510240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198064007 {source="MONDO:equivalentTo", source="DOID:12333"}
xref: SCTID:198067000 {source="DOID:12333"}
xref: UMLS:C0156316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510240"}
is_a: MONDO:0003150 {source="DOID:12333"} ! male reproductive system disorder

[Term]
id: MONDO:0001497
name: male genital organ vascular disease
synonym: "vascular disorder of male genital organs" EXACT [DOID:12335, ICD9CM:608.83]
xref: DOID:12335 {source="MONDO:equivalentTo"}
xref: ICD10CM:N50.1 {source="DOID:12335"}
xref: ICD9:608.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12335"}
xref: MEDGEN:508280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198057005 {source="MONDO:equivalentTo", source="DOID:12335"}
xref: UMLS:C0042374 {source="MEDGEN:508280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="DOID:12335"} ! male reproductive system disorder

[Term]
id: MONDO:0001498
name: varicocele
def: "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." [MESH:D014646]
subset: otar {source="MONDO:OTAR"}
synonym: "scrotal varices" EXACT [DOID:12337, ICD9CM:456.4]
synonym: "scrotum varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of scrotum" EXACT [MONDO:design_pattern]
xref: DOID:12337 {source="MONDO:equivalentTo"}
xref: ICD10CM:I86.1 {source="DOID:12337", source="MONDO:equivalentTo"}
xref: ICD9:456.4 {source="DOID:12337", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:22619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014646 {source="DOID:12337", source="MONDO:equivalentTo"}
xref: SCTID:155480003 {source="DOID:12337"}
xref: SCTID:195480007 {source="DOID:12337"}
xref: SCTID:46871008 {source="DOID:12337", source="MONDO:equivalentTo"}
xref: SCTID:51070004 {source="DOID:12337"}
xref: UMLS:C0042341 {source="MEDGEN:22619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="MESH:D014646", source="MONDO:Entailed"} ! male reproductive system disorder
is_a: MONDO:0004869 {source="DOID:12337"} ! pelvic varices
intersection_of: MONDO:0008638 ! varicose disease
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0001499
name: retroperitoneal lymphoma
def: "A lymphoma that involves the retroperitoneal space." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoma of retroperitoneal space" EXACT [MONDO:design_pattern]
synonym: "primary retroperitoneal lymphoma" EXACT [NCIT:C7353]
synonym: "retroperitoneal lymphoma" EXACT [NCIT:C7353]
synonym: "retroperitoneal space lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:12339 {source="MONDO:equivalentTo"}
xref: MEDGEN:233407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7353 {source="DOID:12339", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:422853008 {source="MONDO:equivalentTo"}
xref: UMLS:C1335779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233407"}
is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C7353/inferred"} ! lymphoma
is_a: MONDO:0005941 {source="DOID:12339", source="NCIT:C7353"} ! retroperitoneal cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space
relationship: disease_has_location UBERON:0003693 {source="NCIT:C7353"} ! retroperitoneal space

[Term]
id: MONDO:0001500
name: obsolete gender identity disorder
def: "OBSOLETE. A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery)." [NCIT:C94362]
subset: otar {source="MONDO:OTAR"}
xref: DOID:1234 {source="MONDO:obsoleteEquivalent"}
xref: EFO:0008587 {source="MONDO:obsoleteEquivalent", source="MONDO:EFO"}
xref: ICD10CM:F64.2 {source="DOID:1234"}
xref: ICD9:302.6 {source="DOID:1234"}
xref: ICD9:302.8 {source="DOID:1234"}
xref: ICD9:302.85 {source="DOID:1234"}
xref: ICD9:302.89 {source="DOID:1234"}
xref: NCIT:C94362 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:5095008 {source="DOID:1234"}
xref: SCTID:87991007 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6585" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0001501
name: retroperitoneal sarcoma
def: "A sarcoma involving a retroperitoneal space." [MONDO:patterns/sarcoma]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "retroperitoneal sarcoma" EXACT [NCIT:C4832]
synonym: "retroperitoneal space sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of retroperitoneal space" EXACT [MONDO:patterns/sarcoma]
xref: DOID:12341 {source="MONDO:equivalentTo"}
xref: MEDGEN:107937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4832 {source="MONDO:equivalentTo", source="DOID:12341", source="MONDO:exact-label-match"}
xref: SCTID:307219002 {source="MONDO:equivalentTo", source="DOID:12341"}
xref: UMLS:C0585129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107937"}
is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C4832/inferred"} ! sarcoma
is_a: MONDO:0005941 {source="DOID:12341", source="MONDO:Redundant", source="NCIT:C4832"} ! retroperitoneal cancer
is_a: MONDO:0018078 {source="NCIT:C4832"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space

[Term]
id: MONDO:0001502
name: retroperitoneum carcinoma
def: "A carcinoma that arises from epithelial cells of the retroperitoneal space." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of retroperitoneal space" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of retroperitoneum" EXACT [DOID:12342, NCIT:C7352]
synonym: "carcinoma of the retroperitoneum" EXACT [DOID:12342, NCIT:C7352]
synonym: "retroperitoneal cancer" BROAD [NCIT:C7352]
synonym: "retroperitoneal carcinoma" EXACT [NCIT:C7352]
synonym: "retroperitoneal space carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:12342 {source="MONDO:equivalentTo"}
xref: MEDGEN:215301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7352 {source="MONDO:equivalentTo", source="DOID:12342"}
xref: UMLS:C0948749 {source="MEDGEN:215301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="DOID:12342", source="MONDO:Redundant", source="NCIT:C7352"} ! carcinoma
is_a: MONDO:0005941 {source="DOID:12342", source="MONDO:Redundant", source="NCIT:C7352"} ! retroperitoneal cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space

[Term]
id: MONDO:0001503
name: primary eye hypotony
synonym: "primary hypotony of eye" EXACT [DOID:12349]
xref: DOID:12349 {source="MONDO:equivalentTo"}
xref: ICD10CM:H44.44 {source="DOID:12349"}
xref: ICD9:360.31 {source="DOID:12349", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:2251002 {source="DOID:12349", source="MONDO:equivalentTo"}
xref: UMLS:C0154782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509656"}
is_a: MONDO:0004390 {source="DOID:12349"} ! ocular hypotension

[Term]
id: MONDO:0001504
name: fetishistic disorder
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects (the \"fetish\")." [NCIT:P378] {source="https://orcid.org/0000-0001-5208-3432"}
synonym: "fetishism" EXACT DEPRECATED [DOID:1235]
xref: DOID:1235 {source="MONDO:equivalentTo"}
xref: ICD10CM:F65.0 {source="MONDO:equivalentTo", source="DOID:1235"}
xref: ICD9:302.81 {source="MONDO:equivalentTo", source="DOID:1235", source="MONDO:i2s"}
xref: MEDGEN:8827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005329 {source="MONDO:equivalentTo", source="DOID:1235"}
xref: NCIT:C94353 {source="MONDO:equivalentTo", source="DOID:1235"}
xref: SCTID:192513009 {source="DOID:1235"}
xref: SCTID:59174009 {source="MONDO:equivalentTo", source="DOID:1235"}
xref: UMLS:C0015957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8827"}
is_a: MONDO:0000596 {source="DOID:1235", source="MESH:D005329"} ! paraphilic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6363" xsd:anyURI

[Term]
id: MONDO:0001505
name: alcoholic hepatitis
def: "Acute hepatitis resulting from ingestion of alcohol." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute alcoholic Hepatitis" EXACT [DOID:12351, NCIT:C34352]
synonym: "acute alcoholic hepatitis" EXACT [DOID:12351, ICD9CM:571.1]
synonym: "acute alcoholic liver disease" EXACT [DOID:12351]
synonym: "alcoholic Hepatitis" EXACT [DOID:12351, NCIT:C34684]
synonym: "alcoholic hepatitis" EXACT [DOID:12351]
xref: CSP:1754-6978 {source="DOID:12351"}
xref: DOID:12351 {source="MONDO:equivalentTo"}
xref: EFO:1001345 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K70.1 {source="MONDO:equivalentTo"}
xref: ICD9:571.1 {source="DOID:12351"}
xref: MEDGEN:42422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006519 {source="MONDO:equivalentTo"}
xref: NCIT:C34352 {source="DOID:12351"}
xref: NCIT:C34684 {source="MONDO:equivalentTo"}
xref: SCTID:155810001 {source="DOID:12351"}
xref: SCTID:235875008 {source="MONDO:equivalentTo"}
xref: SCTID:9953008 {source="DOID:12351"}
xref: UMLS:C0019187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42422"}
is_a: MONDO:0002251 {source="DOID:12351", source="MESH:D006519", source="MONDO:Redundant", source="NCIT:C34684"} ! hepatitis
is_a: MONDO:0043693 {source="MESH:D006519", source="MONDO:Redundant", source="NCIT:C34684"} ! alcoholic liver diseases
intersection_of: MONDO:0002251 ! hepatitis
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0001506
name: prostatocystitis
xref: DOID:12355 {source="MONDO:equivalentTo"}
xref: ICD10CM:N41.3 {source="MONDO:equivalentTo", source="DOID:12355"}
xref: ICD9:601.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12355"}
xref: MEDGEN:510230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:67685000 {source="MONDO:equivalentTo", source="DOID:12355"}
xref: UMLS:C0156291 {source="MEDGEN:510230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003105 {source="MONDO:Redundant"} ! prostate disorder
is_a: MONDO:0006032 {source="DOID:12355", source="MONDO:Redundant"} ! cystitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001255 ! urinary bladder
intersection_of: disease_has_inflammation_site UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0001507
name: viral labyrinthitis
def: "An labyrinthitis caused by infection with Viruses." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "epidemic vertigo" EXACT [DOID:12357, ICD9CM:078.81]
synonym: "epidemic vertigo (finding)" EXACT [DOID:12357]
synonym: "Viruses caused labyrinthitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses labyrinthitis" EXACT []
xref: DOID:12357 {source="MONDO:equivalentTo"}
xref: ICD9:386.35 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12357"}
xref: MEDGEN:509997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:34243007 {source="DOID:12357"}
xref: SCTID:409711008 {source="MONDO:equivalentTo", source="DOID:12357"}
xref: UMLS:C0155508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509997"}
is_a: MONDO:0002008 {source="DOID:12357", source="DOID:12357/inferred", source="MONDO:Redundant"} ! labyrinthitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
intersection_of: disease_has_inflammation_site UBERON:0001846 ! internal ear

[Term]
id: MONDO:0001508
name: patulous eustachian tube
def: "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection." [DOID:12358, http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false]
xref: DOID:12358 {source="MONDO:equivalentTo"}
xref: ICD10CM:H69.0 {source="DOID:12358", source="MONDO:equivalentTo"}
xref: ICD10CM:H69.00 {source="DOID:12358"}
xref: ICD9:381.7 {source="DOID:12358", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:30280005 {source="DOID:12358", source="MONDO:equivalentTo"}
xref: UMLS:C0155434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509965"}
is_a: MONDO:0004866 {source="DOID:12358"} ! eustachian tube disorder

[Term]
id: MONDO:0001509
name: endocrine exophthalmos
def: "Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease." [https://orcid.org/0000-0001-7151-1615, PMID:20181974]
synonym: "Graves’ eye disease" EXACT [PMID:20181974]
synonym: "Graves’ ophthalmopathy" EXACT [PMID:20181974]
synonym: "Graves’ orbitopathy" EXACT [PMID:20181974]
synonym: "TED" EXACT ABBREVIATION [PMID:20181974]
synonym: "thyroid eye disease" EXACT [PMID:20181974]
synonym: "thyroid-associated ophthalmopathy" EXACT [PMID:20181974]
xref: DOID:12359 {source="MONDO:equivalentTo"}
xref: ICD9:376.2 {source="DOID:12359"}
xref: MEDGEN:509882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194012006 {source="DOID:12359"}
xref: SCTID:276177000 {source="DOID:12359", source="MONDO:equivalentTo"}
xref: SCTID:415717005 {source="DOID:12359"}
xref: SCTID:53061005 {source="DOID:12359"}
xref: UMLS:C0155264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509882"}
is_a: MONDO:0004751 {source="DOID:12359"} ! disease of orbital part of eye adnexa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5472" xsd:anyURI

[Term]
id: MONDO:0001510
name: lateral displacement of eye
synonym: "lateral displacement of globe" EXACT [DOID:12360, ICD9CM:376.36]
xref: DOID:12360 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.21 {source="DOID:12360"}
xref: ICD9:376.36 {source="DOID:12360", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:48747004 {source="DOID:12360", source="MONDO:equivalentTo"}
xref: UMLS:C0155272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509888"}
is_a: MONDO:0004751 {source="DOID:12360"} ! disease of orbital part of eye adnexa

[Term]
id: MONDO:0001511
name: thyrotoxic exophthalmos
xref: DOID:12362 {source="MONDO:equivalentTo"}
xref: ICD9:376.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12362"}
xref: MEDGEN:509883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:19885005 {source="MONDO:equivalentTo", source="DOID:12362"}
xref: UMLS:C0155265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509883"}
is_a: MONDO:0001509 {source="DOID:12362"} ! endocrine exophthalmos

[Term]
id: MONDO:0001512
name: intermittent proptosis
synonym: "intermittent exophthalmos" EXACT [DOID:12363, ICD9CM:376.34]
xref: DOID:12363 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.25 {source="DOID:12363"}
xref: ICD9:376.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12363"}
xref: MEDGEN:509886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:49774006 {source="MONDO:equivalentTo", source="DOID:12363"}
xref: UMLS:C0155270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509886"}
is_a: MONDO:0004751 {source="DOID:12363"} ! disease of orbital part of eye adnexa

[Term]
id: MONDO:0001513
name: pulsating exophthalmos
xref: DOID:12364 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.26 {source="DOID:12364"}
xref: ICD9:376.35 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12364"}
xref: MEDGEN:509887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:2284002 {source="MONDO:equivalentTo", source="DOID:12364"}
xref: UMLS:C0155271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509887"}
is_a: MONDO:0004751 {source="DOID:12364"} ! disease of orbital part of eye adnexa

[Term]
id: MONDO:0001514
name: prolapse of urethra
def: "Prolapse of the urethral mucosa from the exterior urethral opening." [NCIT:P378]
synonym: "urethrocele" EXACT [DOID:12369, ICD9CM:618.03]
xref: DOID:12369 {source="MONDO:equivalentTo"}
xref: ICD10CM:N81.0 {source="DOID:12369", source="MONDO:equivalentTo"}
xref: ICD9:599.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:618.03 {source="DOID:12369", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:451007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123256 {source="DOID:12369", source="MONDO:otherHierarchy"}
xref: SCTID:12068006 {source="DOID:12369", source="MONDO:equivalentTo"}
xref: SCTID:197935003 {source="DOID:12369"}
xref: UMLS:C0238502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:451007"}
is_a: MONDO:0001592 {source="DOID:12369", source="ICD10CM:N81.0"} ! prolapse of female genital organ
is_a: MONDO:0004184 {source="DOID:12369"} ! urethral disorder

[Term]
id: MONDO:0001515
name: corneal degeneration
subset: otar {source="MONDO:OTAR"}
xref: DOID:1237 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.4 {source="MONDO:equivalentTo", source="DOID:1237"}
xref: ICD10CM:H18.40 {source="DOID:1237"}
xref: ICD9:371.4 {source="DOID:1237"}
xref: ICD9:371.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1237"}
xref: ICD9:371.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111521006 {source="MONDO:equivalentTo", source="DOID:1237"}
xref: SCTID:193824006 {source="DOID:1237"}
xref: SCTID:193830006 {source="DOID:1237"}
xref: UMLS:C0155118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56352"}
is_a: MONDO:0000942 {source="DOID:1237"} ! corneal disorder

[Term]
id: MONDO:0001516
name: spinal muscular atrophy
def: "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy]
subset: gard_rare {source="GARD:7674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:12377 {source="MONDO:equivalentTo"}
xref: EFO:0008525 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7674 {source="MONDO:GARD"}
xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G12.9 {source="DOID:12377"}
xref: ICD9:335.1 {source="DOID:12377"}
xref: ICD9:335.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12377"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009134 {source="MONDO:equivalentTo", source="DOID:12377"}
xref: NANDO:1200003 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100231 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200853 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85075 {source="MONDO:equivalentTo", source="DOID:12377"}
xref: SCTID:192885003 {source="DOID:12377"}
xref: SCTID:192887006 {source="DOID:12377"}
xref: SCTID:5262007 {source="MONDO:equivalentTo", source="DOID:12377"}
xref: UMLS:C0026847 {source="MEDGEN:7755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003182 {source="Wikipedia:Anterior_horn_disease"} ! anterior horn disorder
is_a: MONDO:0020128 {source="DOID:12377", source="EFO:0008525", source="MESH:D009134"} ! motor neuron disorder
relationship: excluded_subClassOf MONDO:0005336 {source="NCIT:C85075", source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy" xsd:anyURI {source="GARD:0007674"}

[Term]
id: MONDO:0001517
name: dysentery
def: "Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration." [MESH:D004403]
subset: otar {source="MONDO:OTAR"}
synonym: "diarrheal disease, infectious" EXACT [MESH:D004403]
synonym: "dysenteric diarrhea" EXACT []
synonym: "dysenteric diarrhoea" EXACT OMO:0003005 []
synonym: "infectious diarrhea" EXACT [DOID:12384, ICD9CM:009.2]
synonym: "infectious diarrheal disease" EXACT [MESH:D004403]
synonym: "infectious diarrheal diseases" EXACT [MESH:D004403]
synonym: "infectious diarrhoea" EXACT OMO:0003005 []
synonym: "infective diarrhea" EXACT []
synonym: "infective diarrhoea" EXACT OMO:0003005 []
xref: DOID:12384 {source="MONDO:equivalentTo"}
xref: EFO:1001869 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:009.2 {source="DOID:12384"}
xref: MEDGEN:3934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004403 {source="MONDO:equivalentTo", source="DOID:12384"}
xref: SCTID:111939009 {source="MONDO:equivalentTo", source="DOID:12384"}
xref: SCTID:154268000 {source="DOID:12384"}
xref: SCTID:154279005 {source="DOID:12384"}
xref: SCTID:186165000 {source="DOID:12384"}
xref: SCTID:186167008 {source="DOID:12384"}
xref: SCTID:19213003 {source="MONDO:equivalentTo", source="DOID:12384", source="MONDO:preferredExternal"}
xref: SCTID:236076004 {source="DOID:12384"}
xref: SCTID:266173000 {source="DOID:12384"}
xref: SCTID:266180003 {source="DOID:12384"}
xref: UMLS:C0013369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3934"}
is_a: MONDO:0000916 {source="DOID:12384"} ! intestinal infectious disease
is_a: MONDO:0002269 {source="MESH:D004403", source="MONDO:Redundant", source="MONDO:indirect"} ! gastroenteritis
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: MONDO:0005550 ! infectious disease
disjoint_from: MONDO:0045030 ! non-infectious diarrheal disease
relationship: disease_has_feature HP:0025085 {source="Wikipedia:Dysentery"} ! Bloody diarrhea
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3703" xsd:anyURI

[Term]
id: MONDO:0001518
name: spastic entropion
xref: DOID:12395 {source="MONDO:equivalentTo"}
xref: ICD9:374.03 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12395"}
xref: MEDGEN:509839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:20828000 {source="MONDO:equivalentTo", source="DOID:12395"}
xref: UMLS:C0155190 {source="MEDGEN:509839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001519 {source="DOID:12395"} ! entropion

[Term]
id: MONDO:0001519
name: entropion
def: "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" [MESH:D004774]
subset: otar {source="MONDO:OTAR"}
synonym: "entropion" EXACT [MONDO:ambiguous]
synonym: "entropion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12397 {source="MONDO:equivalentTo"}
xref: HP:0000621 {source="MONDO:otherHierarchy"}
xref: ICD9:374.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12397"}
xref: MEDGEN:41813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004774 {source="MONDO:equivalentTo", source="DOID:12397"}
xref: SCTID:155177005 {source="DOID:12397"}
xref: SCTID:193928005 {source="DOID:12397"}
xref: SCTID:246821008 {source="DOID:12397"}
xref: SCTID:33168009 {source="MONDO:equivalentTo", source="DOID:12397"}
xref: UMLS:C0014390 {source="MONDO:equivalentTo", source="MEDGEN:41813", source="MONDO:MEDGEN"}
is_a: MONDO:0003382 {source="DOID:12397", source="MESH:D004774"} ! eyelid disorder
property_value: IAO:0000589 "entropion (disease)" xsd:string

[Term]
id: MONDO:0001520
name: kleptomania
def: "A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft." [NCIT:C94333]
synonym: "kleptomania" EXACT [NCIT:C94333]
synonym: "pathological stealing" EXACT [DOID:12400]
xref: DOID:12400 {source="MONDO:equivalentTo"}
xref: ICD10CM:F63.2 {source="MONDO:equivalentTo", source="DOID:12400"}
xref: ICD9:312.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12400"}
xref: MEDGEN:5974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007174 {source="DOID:12400"}
xref: NCIT:C94333 {source="MONDO:equivalentTo", source="DOID:12400"}
xref: SCTID:154947009 {source="DOID:12400"}
xref: SCTID:192503001 {source="DOID:12400"}
xref: SCTID:69361009 {source="MONDO:equivalentTo", source="DOID:12400"}
xref: UMLS:C0022734 {source="MONDO:equivalentTo", source="MEDGEN:5974", source="MONDO:MEDGEN"}
is_a: MONDO:0001162 {source="DOID:12400", source="NCIT:C94333"} ! impulse control disorder

[Term]
id: MONDO:0001521
name: intermittent explosive disorder
def: "A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use." [NCIT:P378]
synonym: "explosive personality disorder" EXACT [DOID:12401]
xref: DOID:12401 {source="MONDO:equivalentTo"}
xref: ICD10CM:F60.3 {source="DOID:12401"}
xref: ICD10CM:F63.81 {source="MONDO:equivalentTo", source="DOID:12401"}
xref: ICD9:301.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12401"}
xref: ICD9:312.34 {source="DOID:12401"}
xref: MEDGEN:7116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007174 {source="DOID:12401"}
xref: NCIT:C94332 {source="MONDO:equivalentTo", source="DOID:12401"}
xref: SCTID:191759005 {source="DOID:12401"}
xref: SCTID:192096007 {source="DOID:12401"}
xref: SCTID:192488005 {source="DOID:12401"}
xref: SCTID:231527003 {source="MONDO:equivalentTo", source="DOID:12401"}
xref: SCTID:268757006 {source="DOID:12401"}
xref: SCTID:40987004 {source="DOID:12401"}
xref: UMLS:C0021776 {source="MEDGEN:7116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001162 {source="DOID:12401", source="NCIT:C94332"} ! impulse control disorder

[Term]
id: MONDO:0001522
name: pyromania
def: "A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting." [NCIT:P378]
synonym: "firesetting behavior" EXACT [DOID:12402]
synonym: "firesetting behaviour" EXACT OMO:0003005 []
synonym: "pathological firesetting" EXACT [DOID:12402]
xref: DOID:12402 {source="MONDO:equivalentTo"}
xref: ICD10CM:F63.1 {source="DOID:12402", source="MONDO:equivalentTo"}
xref: ICD9:312.33 {source="DOID:12402", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:42028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005391 {source="DOID:12402", source="MONDO:equivalentTo"}
xref: NCIT:C94334 {source="DOID:12402", source="MONDO:equivalentTo"}
xref: SCTID:192502006 {source="DOID:12402"}
xref: SCTID:248015004 {source="DOID:12402"}
xref: SCTID:600009 {source="DOID:12402", source="MONDO:equivalentTo"}
xref: UMLS:C0016142 {source="MEDGEN:42028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001162 {source="DOID:12402", source="NCIT:C94334"} ! impulse control disorder

[Term]
id: MONDO:0001523
name: luxation of globe
synonym: "luxation of eye" EXACT [DOID:1241]
xref: DOID:1241 {source="MONDO:equivalentTo"}
xref: ICD10CM:H44.82 {source="DOID:1241"}
xref: ICD9:360.81 {source="DOID:1241", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:20842008 {source="DOID:1241", source="MONDO:equivalentTo"}
xref: UMLS:C0154806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509664"}
is_a: MONDO:0005328 {source="DOID:1241"} ! eye disorder

[Term]
id: MONDO:0001524
name: obsolete globe disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005328

[Term]
id: MONDO:0001525
name: thyrocalcitonin secretion disease
synonym: "disorder of thyrocalcitonin secretion" EXACT [DOID:12424, ICD9CM:246.0]
xref: DOID:12424 {source="MONDO:equivalentTo"}
xref: ICD9:246.0 {source="DOID:12424", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:675237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190303007 {source="DOID:12424", source="MONDO:equivalentTo"}
xref: UMLS:C0701822 {source="MEDGEN:675237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="DOID:12424"} ! thyroid gland disorder

[Term]
id: MONDO:0001526
name: labia minora cancer
def: "A malignant neoplasm that affects the labia minora." [NCIT:C7637]
synonym: "cancer of labium minora" EXACT [MONDO:patterns/cancer]
synonym: "labium minora cancer" EXACT [MONDO:patterns/location]
synonym: "malignant labia minora neoplasm" EXACT [NCIT:C7637]
synonym: "malignant labia minora tumor" EXACT [NCIT:C7637]
synonym: "malignant labia minora tumour" EXACT OMO:0003005 []
synonym: "malignant labium minora neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of labia minora" EXACT [DOID:1243, ICD9CM:184.2, NCIT:C7637]
synonym: "malignant neoplasm of labium minora" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of labium minus" EXACT [DOID:1243, MTH:U001388]
synonym: "malignant neoplasm of the labia minora" EXACT [NCIT:C7637]
synonym: "malignant tumor of labia minora" EXACT [DOID:1243, NCIT:C7637]
synonym: "malignant tumor of the labia minora" EXACT [NCIT:C7637]
synonym: "malignant tumour of labia minora" EXACT OMO:0003005 []
synonym: "malignant tumour of the labia minora" EXACT OMO:0003005 []
xref: DOID:1243 {source="MONDO:equivalentTo"}
xref: ICD10CM:C51.1 {source="DOID:1243", source="MONDO:equivalentTo"}
xref: ICD9:184.2 {source="DOID:1243", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:96921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7637 {source="DOID:1243", source="MONDO:equivalentTo"}
xref: SCTID:363447008 {source="DOID:1243", source="MONDO:equivalentTo"}
xref: SCTID:93851005 {source="DOID:1243"}
xref: UMLS:C0496815 {source="MEDGEN:96921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001528 {source="DOID:1243", source="MONDO:Redundant", source="NCIT:C7637"} ! vulva cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0004014 ! labium minora

[Term]
id: MONDO:0001527
name: conjugate gaze palsy
synonym: "palsy of conjugate gaze" EXACT [DOID:12445, ICD9CM:378.81]
xref: DOID:12445 {source="MONDO:equivalentTo"}
xref: ICD9:378.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12445"}
xref: MEDGEN:675273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1534008 {source="MONDO:equivalentTo", source="DOID:12445"}
xref: SCTID:193169002 {source="DOID:12445"}
xref: SCTID:194130001 {source="DOID:12445"}
xref: UMLS:C0702143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:675273"}
is_a: MONDO:0003432 {source="DOID:12445"} ! strabismus

[Term]
id: MONDO:0001528
name: vulva cancer
def: "A primary or metastatic malignant neoplasm involving the vulva." [NCIT:C7502]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca vulva" EXACT [DOID:1245]
synonym: "cancer of mammalian vulva" EXACT [MONDO:patterns/cancer]
synonym: "malignant mammalian vulva neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of mammalian vulva" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the vulva" EXACT [NCIT:C7502]
synonym: "malignant neoplasm of vulva" EXACT [NCIT:C7502]
synonym: "malignant neoplasm of vulva unspecified" EXACT [DOID:1245]
synonym: "malignant neoplasm of vulva, NOS" RELATED EXCLUDE [DOID:1245]
synonym: "malignant neoplasm of vulva, unspecified" EXACT [DOID:1245, ICD9CM:184.4]
synonym: "malignant tumor of the vulva" EXACT [NCIT:C7502]
synonym: "malignant tumor of vulva" EXACT [NCIT:C7502]
synonym: "malignant tumour of the vulva" EXACT OMO:0003005 []
synonym: "malignant tumour of vulva" EXACT OMO:0003005 []
synonym: "malignant vulva neoplasm" EXACT [NCIT:C7502]
synonym: "malignant vulva tumor" EXACT [NCIT:C7502]
synonym: "malignant vulva tumour" EXACT OMO:0003005 []
synonym: "malignant vulvar neoplasm" EXACT [NCIT:C7502]
synonym: "malignant vulvar tumor" EXACT [DOID:1245, NCIT:C7502]
synonym: "malignant vulvar tumour" EXACT OMO:0003005 []
synonym: "mammalian vulva cancer" EXACT [MONDO:patterns/location]
synonym: "neoplasm of vulva" BROAD [DOID:1245]
synonym: "vulval cancer" EXACT [DOID:1245]
synonym: "vulval neoplasm" BROAD [DOID:1245]
synonym: "vulvar cancer" EXACT [MONDO:patterns/location]
synonym: "vulvar neoplasm" BROAD EXCLUDE [DOID:1245]
synonym: "vulvar tumor" BROAD EXCLUDE [DOID:1245]
synonym: "vulvar tumour" BROAD OMO:0003005 []
xref: DOID:1245 {source="MONDO:equivalentTo"}
xref: ICD10CM:C51 {source="DOID:1245"}
xref: ICD10CM:C51.9 {source="DOID:1245"}
xref: ICD9:184.4 {source="DOID:1245", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:91196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014846 {source="DOID:1245", source="MONDO:equivalentTo"}
xref: NCIT:C7502 {source="DOID:1245", source="MONDO:equivalentTo"}
xref: SCTID:126922007 {source="DOID:1245"}
xref: SCTID:154535008 {source="DOID:1245"}
xref: SCTID:188214009 {source="DOID:1245"}
xref: SCTID:269471005 {source="DOID:1245"}
xref: SCTID:269604005 {source="DOID:1245"}
xref: SCTID:363367000 {source="DOID:1245", source="MONDO:equivalentTo"}
xref: SCTID:94143002 {source="DOID:1245"}
xref: UMLS:C0375071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91196"}
is_a: MONDO:0001416 {source="DOID:1245", source="MONDO:Redundant", source="NCIT:C7502"} ! female reproductive organ cancer
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C7502"} ! vulvar neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0001529
name: pancytopenia
def: "A finding of low numbers of red and white blood cells and platelets in the peripheral blood." [NCIT:C34889]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:12450 {source="MONDO:equivalentTo"}
xref: ICD10CM:D61.81 {source="DOID:12450"}
xref: ICD9:284.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12450"}
xref: ICD9:284.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010198 {source="MONDO:equivalentTo", source="DOID:12450"}
xref: NCIT:C34889 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:12450", source="MONDO:exact-label-match"}
xref: NCIT:C80693 {source="DOID:12450"}
xref: SCTID:127034005 {source="MONDO:equivalentTo", source="DOID:12450"}
xref: SCTID:191250008 {source="DOID:12450"}
xref: SCTID:267528007 {source="DOID:12450"}
xref: UMLS:C0030312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18281"}
is_a: MONDO:0002280 {source="DOID:12450"} ! anemia

[Term]
id: MONDO:0001530
name: secondary hyperparathyroidism of renal origin
synonym: "hyperparathyroidism due to renal insufficiency" EXACT [DOID:12465]
synonym: "secondary hyperparathyroidism" RELATED EXCLUDE [DOID:12465]
synonym: "secondary hyperparathyroidism (of renal origin)" EXACT [DOID:12465, ICD9CM:588.81]
xref: DOID:12465 {source="MONDO:equivalentTo"}
xref: ICD10CM:N25.81 {source="MONDO:equivalentTo", source="DOID:12465"}
xref: ICD9:588.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12465"}
xref: MEDGEN:543606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:19034001 {source="MONDO:equivalentTo", source="DOID:12465"}
xref: SCTID:31298003 {source="DOID:12465"}
xref: UMLS:C0271847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543606"}
is_a: MONDO:0001343 {source="DOID:12465", source="ICD10CM:N25.81", source="ICD10CM:N25.81/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! impaired renal function disease
is_a: MONDO:0006964 {source="DOID:12465", source="MONDO:Redundant"} ! secondary hyperparathyroidism
intersection_of: MONDO:0006964 ! secondary hyperparathyroidism
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0002113 ! kidney
disjoint_from: MONDO:0001750 ! non-renal secondary hyperparathyroidism

[Term]
id: MONDO:0001531
name: blood coagulation disease
def: "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." [NCIT:C2902]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blood coagulation disorder" EXACT [MESH:D001778]
synonym: "coagulation defect" EXACT [NCIT:C2902]
synonym: "coagulation disorder" EXACT [NCIT:C2902]
synonym: "coagulation disorder, blood" EXACT [MESH:D001778]
synonym: "coagulation disorders, blood" EXACT [MESH:D001778]
synonym: "coagulopathy" EXACT [NCIT:C2902, Wikipedia:Coagulopathy]
synonym: "disorder, blood coagulation" EXACT [MESH:D001778]
synonym: "disorders, blood coagulation" EXACT [MESH:D001778]
synonym: "postpartum coagulation defect" EXACT [DOID:1247]
synonym: "postpartum coagulation defect with delivery" EXACT [DOID:1247]
xref: DOID:1247 {source="MONDO:equivalentTo"}
xref: EFO:0009314 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D65-D69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D68.9 {source="DOID:1247"}
xref: ICD9:286 {source="DOID:1247"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:287.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001778 {source="DOID:1247", source="MONDO:equivalentTo"}
xref: NCIT:C2902 {source="DOID:1247", source="MONDO:equivalentTo"}
xref: SCTID:127073005 {source="DOID:1247"}
xref: SCTID:154815003 {source="DOID:1247"}
xref: SCTID:191303002 {source="DOID:1247"}
xref: SCTID:267562007 {source="DOID:1247"}
xref: SCTID:362970003 {source="DOID:1247"}
xref: SCTID:64779008 {source="DOID:1247", source="MONDO:equivalentTo"}
xref: UMLS:C0005779 {source="MEDGEN:604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="DOID:1247", source="MESH:D001778", source="NCIT:C2902/inferred"} ! hematologic disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0007596 ! blood coagulation

[Term]
id: MONDO:0001532
name: capillariasis
def: "A infectious disease involving the Capillaria." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Capillaria infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "infections, Capillaria" RELATED [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:12474 {source="MONDO:equivalentTo"}
xref: ICD10CM:B81.1 {source="DOID:12474"}
xref: ICD9:127.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12474"}
xref: MEDGEN:507518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:52979002 {source="MONDO:equivalentTo", source="DOID:12474"}
xref: UMLS:C0006897 {source="MEDGEN:507518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:12474"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:119095 ! Capillaria

[Term]
id: MONDO:0001533
name: pes anserinus tendinitis or bursitis
xref: DOID:12475 {source="MONDO:equivalentTo"}
xref: ICD9:726.61 {source="DOID:12475"}
xref: MEDGEN:592819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0410086 {source="MEDGEN:592819", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002183 {source="DOID:12475"} ! enthesopathy

[Term]
id: MONDO:0001534
name: ocular hyperemia
synonym: "hyperemia eye" EXACT [DOID:1248, MTH:NOCODE]
synonym: "hyperemia of conjunctiva" EXACT [DOID:1248, ICD9CM:372.71]
xref: DOID:1248 {source="MONDO:equivalentTo"}
xref: MEDGEN:509827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:359610006 {source="MONDO:equivalentTo", source="DOID:1248"}
xref: SCTID:76849009 {source="DOID:1248"}
xref: UMLS:C0155169 {source="MEDGEN:509827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006170 {source="DOID:1248"} ! conjunctival disorder

[Term]
id: MONDO:0001535
name: vagus nerve disorder
def: "A disease involving the vagus nerve." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of vagus nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vagus nerve" EXACT []
synonym: "disorder of pneumogastric [10th] nerve" EXACT [DOID:12491, ICD9CM:352.3]
synonym: "disorder of vagal nerve" EXACT [DOID:12491]
synonym: "disorder of vagus nerve" EXACT [MONDO:patterns/location_top]
synonym: "vagus nerve disease" EXACT [MONDO:patterns/location]
synonym: "vagus nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Vagus nerve disorder" EXACT [DOID:12491, NCIT:C27591]
xref: DOID:12491 {source="MONDO:equivalentTo"}
xref: ICD10CM:G52.2 {source="DOID:12491"}
xref: ICD9:352.3 {source="MONDO:equivalentTo", source="DOID:12491", source="MONDO:i2s"}
xref: MEDGEN:101824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020421 {source="MONDO:equivalentTo", source="DOID:12491"}
xref: NCIT:C27591 {source="MONDO:equivalentTo", source="DOID:12491"}
xref: SCTID:73765005 {source="MONDO:equivalentTo", source="DOID:12491"}
xref: UMLS:C0152179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101824"}
is_a: MONDO:0002639 {source="DOID:12491"} ! glossopharyngeal nerve disorder
is_a: MONDO:0003569 {source="DOID:12491/inferred", source="MESH:D020421", source="MONDO:Redundant", source="NCIT:C27591"} ! cranial nerve neuropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001759 ! vagus nerve

[Term]
id: MONDO:0001536
name: vaginal leiomyoma
def: "A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6373]
synonym: "leiomyoma of the vagina" EXACT [NCIT:C6373]
synonym: "leiomyoma of vagina" EXACT [DOID:125, NCIT:C6373]
synonym: "vagina leiomyoma" EXACT [MONDO:patterns/location]
synonym: "vaginal leiomyoma" EXACT [NCIT:C6373]
xref: DOID:125 {source="MONDO:equivalentTo"}
xref: MEDGEN:277859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6373 {source="MONDO:equivalentTo", source="DOID:125"}
xref: UMLS:C1336939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277859"}
is_a: MONDO:0000647 {source="DOID:125", source="MONDO:Redundant", source="NCIT:C6373"} ! benign vaginal neoplasm
is_a: MONDO:0001572 {source="DOID:125", source="MONDO:Redundant", source="NCIT:C6373"} ! leiomyoma
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0001537
name: tuberculous epididymitis
def: "An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:1251 {source="MONDO:equivalentTo"}
xref: ICD9:016.4 {source="DOID:1251"}
xref: ICD9:016.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:016.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:016.42 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:016.46 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:83652003 {source="DOID:1251", source="MONDO:equivalentTo"}
xref: UMLS:C0152814 {source="MEDGEN:509077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004779 {source="MONDO:Redundant"} ! epididymitis
is_a: MONDO:0006002 {source="DOID:1251", source="MONDO:Redundant"} ! urogenital tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_inflammation_site UBERON:0001301 ! epididymis

[Term]
id: MONDO:0001538
name: retinal ischemia
def: "A ischemic disease that involves the retina." [MONDO:patterns/location]
synonym: "ischaemic disease of retina" EXACT OMO:0003005 []
synonym: "ischemic disease of retina" EXACT [MONDO:design_pattern]
synonym: "retina ischaemic disease" EXACT OMO:0003005 []
synonym: "retina ischemic disease" EXACT [MONDO:patterns/location]
xref: DOID:12510 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.82 {source="MONDO:equivalentTo", source="DOID:12510"}
xref: ICD9:362.84 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12510"}
xref: MEDGEN:102372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193427006 {source="DOID:12510"}
xref: SCTID:26468004 {source="MONDO:equivalentTo", source="DOID:12510"}
xref: UMLS:C0162291 {source="MEDGEN:102372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005283 {source="DOID:12510", source="MONDO:Redundant"} ! retinal disorder
intersection_of: MONDO:0005053 ! ischemic disease
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0001539
name: retinal perforation
def: "A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "retinal break" EXACT [DOID:12514]
synonym: "retinal dialysis" EXACT [DOID:12514]
synonym: "retinal tear" EXACT [DOID:12514]
xref: DOID:12514 {source="MONDO:equivalentTo"}
xref: MEDGEN:48435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012167 {source="DOID:12514", source="MONDO:equivalentTo"}
xref: NCIT:C50732 {source="DOID:12514", source="MONDO:otherHierarchy"}
xref: SCTID:155104004 {source="DOID:12514"}
xref: SCTID:193317004 {source="DOID:12514"}
xref: SCTID:193343003 {source="DOID:12514"}
xref: SCTID:232003005 {source="DOID:12514", source="MONDO:equivalentTo"}
xref: SCTID:302888003 {source="DOID:12514"}
xref: SCTID:40024006 {source="DOID:12514"}
xref: SCTID:95690009 {source="DOID:12514"}
xref: UMLS:C0035321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48435"}
is_a: MONDO:0008375 {source="DOID:12514"} ! retinal detachment

[Term]
id: MONDO:0001540
name: bagassosis
def: "An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bagasse extrinsic allergic alveolitis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "bagasse workers lung" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "extrinsic allergic alveolitis from bagasse" EXACT []
synonym: "sugar cane worker pneumonitis" EXACT [DOID:12522]
xref: DOID:12522 {source="MONDO:equivalentTo"}
xref: ICD10CM:J67.1 {source="MONDO:equivalentTo", source="DOID:12522"}
xref: ICD9:495.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12522"}
xref: MEDGEN:2539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011009 {source="MONDO:relatedTo", source="DOID:12522"}
xref: NCIT:C34409 {source="MONDO:equivalentTo", source="DOID:12522"}
xref: SCTID:67242002 {source="MONDO:equivalentTo", source="DOID:12522"}
xref: UMLS:C0004681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2539"}
is_a: MONDO:0017853 {source="DOID:12522", source="MONDO:Redundant", source="NCIT:C34409"} ! hypersensitivity pneumonitis
intersection_of: MONDO:0017853 ! hypersensitivity pneumonitis
intersection_of: realized_in_response_to_stimulus ENVO:00002872 ! bagasse
relationship: disease_has_feature HP:0001324 ! Muscle weakness

[Term]
id: MONDO:0001541
name: plantar nerve lesion
def: "A peripheral nerve lesion that involves the plantar nerve." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lesion of plantar nerve" EXACT [DOID:12524, ICD9CM:355.6]
synonym: "lesion of plantar nerve, NOS" RELATED EXCLUDE [DOID:12524]
synonym: "peripheral nerve lesion of plantar nerve" EXACT []
synonym: "plantar nerve peripheral nerve lesion" EXACT [MONDO:patterns/location]
xref: DOID:12524 {source="MONDO:equivalentTo"}
xref: ICD10CM:G57.6 {source="DOID:12524"}
xref: ICD10CM:G57.60 {source="DOID:12524"}
xref: ICD9:355.6 {source="DOID:12524", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193148004 {source="DOID:12524", source="MONDO:equivalentTo"}
xref: SCTID:193151006 {source="DOID:12524"}
xref: SCTID:60525009 {source="DOID:12524"}
xref: UMLS:C0154752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509644"}
intersection_of: MONDO:0024334 ! peripheral nerve lesion
intersection_of: disease_has_location UBERON:0035109 ! plantar nerve
relationship: excluded_subClassOf MONDO:0004797 {source="DOID:12524", source="https://orcid.org/0000-0001-5208-3432"} ! mononeuritis of lower limb

[Term]
id: MONDO:0001542
name: common peroneal nerve lesion
def: "A peripheral nerve lesion that involves the common fibular nerve." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "common fibular nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "peripheral nerve lesion of common fibular nerve" EXACT [MONDO:design_pattern]
xref: DOID:12527 {source="MONDO:equivalentTo"}
xref: ICD10CM:G57.3 {source="DOID:12527"}
xref: ICD10CM:G57.30 {source="DOID:12527"}
xref: ICD9:355.3 {source="DOID:12527", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:16006009 {source="DOID:12527"}
xref: SCTID:399107008 {source="DOID:12527", source="MONDO:equivalentTo"}
xref: SCTID:55740007 {source="DOID:12527"}
xref: UMLS:C0270909 {source="MEDGEN:543054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004797 {source="DOID:12527"} ! mononeuritis of lower limb
intersection_of: MONDO:0024334 ! peripheral nerve lesion
intersection_of: disease_has_location UBERON:0001324 ! common fibular nerve

[Term]
id: MONDO:0001543
name: lesion of sciatic nerve
def: "A peripheral nerve lesion that involves the sciatic nerve." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peripheral nerve lesion of sciatic nerve" EXACT [MONDO:design_pattern]
synonym: "sciatic nerve peripheral nerve lesion" EXACT [MONDO:patterns/location]
xref: DOID:12528 {source="MONDO:equivalentTo"}
xref: ICD10CM:G57.0 {source="DOID:12528", source="MONDO:equivalentTo"}
xref: ICD10CM:G57.00 {source="DOID:12528"}
xref: ICD9:355.0 {source="DOID:12528", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020426 {source="DOID:12528"}
xref: SCTID:193144002 {source="DOID:12528"}
xref: SCTID:367137004 {source="DOID:12528", source="MONDO:equivalentTo"}
xref: SCTID:52585001 {source="DOID:12528"}
xref: UMLS:C0154748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56346"}
is_a: MONDO:0006960 ! sciatic neuropathy
intersection_of: MONDO:0024334 ! peripheral nerve lesion
intersection_of: disease_has_location UBERON:0001322 ! sciatic nerve
relationship: excluded_subClassOf MONDO:0004797 {source="DOID:12528", source="https://orcid.org/0000-0001-5208-3432"} ! mononeuritis of lower limb

[Term]
id: MONDO:0001544
name: tibial nerve palsy
comment: Editor note: todo
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:12529 {source="MONDO:equivalentTo"}
xref: ICD9:355.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:359842002 {source="DOID:12529"}
xref: SCTID:365258000 {source="MONDO:equivalentTo", source="DOID:12529"}
xref: UMLS:C0154751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509643"}
is_a: MONDO:0004797 {source="DOID:12529"} ! mononeuritis of lower limb

[Term]
id: MONDO:0001545
name: obsolete von willebrand disease
synonym: "obsolete von willebrand's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0019565

[Term]
id: MONDO:0001546
name: hypermobility of coccyx
synonym: "coccygeal hypermobility syndrome" EXACT [DOID:12537]
synonym: "hypermobility of the coccyx" EXACT [DOID:12537]
xref: DOID:12537 {source="MONDO:equivalentTo"}
xref: ICD9:724.71 {source="DOID:12537", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:202809009 {source="DOID:12537", source="MONDO:equivalentTo"}
xref: SCTID:22903002 {source="DOID:12537"}
xref: SCTID:247367007 {source="DOID:12537"}
xref: UMLS:C0158295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510502"}
is_a: MONDO:0005095 {source="DOID:12537"} ! spondyloarthropathy

[Term]
id: MONDO:0001547
name: atrophic nonflaccid tympanic membrane
xref: DOID:12546 {source="MONDO:equivalentTo"}
xref: ICD10CM:H73.82 {source="DOID:12546"}
xref: ICD9:384.82 {source="DOID:12546", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194323000 {source="DOID:12546"}
xref: SCTID:72052003 {source="DOID:12546", source="MONDO:equivalentTo"}
xref: UMLS:C0155471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509983"}
is_a: MONDO:0003648 {source="DOID:12546"} ! tympanic membrane disorder

[Term]
id: MONDO:0001548
name: hepatic coma
def: "A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)" [MESH:D006501]
synonym: "hepatocerebral intoxication" EXACT [DOID:12550]
xref: DOID:12550 {source="MONDO:equivalentTo"}
xref: ICD10CM:K72.91 {source="DOID:12550"}
xref: ICD9:070.42 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006501 {source="DOID:12550"}
xref: SCTID:155820006 {source="DOID:12550"}
xref: SCTID:197332007 {source="DOID:12550"}
xref: SCTID:72836002 {source="MONDO:equivalentTo", source="DOID:12550"}
xref: UMLS:C0019147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6803"}
is_a: MONDO:0001711 {source="DOID:12550"} ! hepatic encephalopathy

[Term]
id: MONDO:0001549
name: hemolytic-uremic syndrome
def: "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:22233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:544458"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anaemia associated with distorted erythrocytes ('burr cells')" RELATED OMO:0003005 []
synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')" RELATED [GARD:0006588]
synonym: "haemolytic-uraemic syndrome" EXACT [DOID:12554]
synonym: "hemolytic uremic syndrome" EXACT [DOID:12554]
synonym: "HUS" EXACT ABBREVIATION [NCIT:C75545]
xref: DOID:12554 {source="MONDO:equivalentTo"}
xref: GARD:22233 {source="MONDO:GARD"}
xref: ICD10CM:D59.3 {source="MONDO:equivalentTo", source="DOID:12554"}
xref: ICD9:283.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12554"}
xref: MEDGEN:42403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006463 {source="MONDO:equivalentTo", source="DOID:12554"}
xref: NCIT:C75545 {source="MONDO:equivalentTo", source="DOID:12554"}
xref: Orphanet:2134 {source="DOID:12554"}
xref: Orphanet:544458 {source="MONDO:equivalentTo"}
xref: Orphanet:576742 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:111407006 {source="MONDO:equivalentTo", source="DOID:12554"}
xref: SCTID:123308008 {source="DOID:12554"}
xref: UMLS:C0019061 {source="MEDGEN:42403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001531 {source="NCIT:C75545"} ! blood coagulation disease
relationship: excluded_subClassOf MONDO:0003664 {source="DOID:12554", source="ICD10CM:D59.3/inferred", source="MESH:D006463", source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
relationship: excluded_subClassOf MONDO:0015910 {source="Orphanet:544458", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare constitutional hemolytic anemia
relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:544458", source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic microangiopathy

[Term]
id: MONDO:0001550
name: obsolete Duane retraction syndrome
is_obsolete: true
replaced_by: MONDO:0007473

[Term]
id: MONDO:0001551
name: ulceration of vulva
subset: otar {source="MONDO:OTAR"}
synonym: "ulceration of vulva" EXACT []
synonym: "vulvar ulceration" RELATED []
xref: DOID:12566 {source="MONDO:equivalentTo"}
xref: ICD10CM:N76.6 {source="MONDO:equivalentTo"}
xref: ICD10CM:N77.0 {source="DOID:12566"}
xref: ICD9:616.50 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:616.51 {source="DOID:12566"}
xref: MEDGEN:510247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198230004 {source="DOID:12566"}
xref: SCTID:68640004 {source="MONDO:equivalentTo"}
xref: SCTID:86533009 {source="DOID:12566"}
xref: UMLS:C0156339 {source="MONDO:equivalentTo", source="MEDGEN:510247", source="MONDO:MEDGEN"}
is_a: MONDO:0002187 {source="DOID:12566"} ! vulvar disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva
intersection_of: disease_has_major_feature HP:0003249 ! Genital ulcers

[Term]
id: MONDO:0001552
name: dyscalculia
def: "A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties." [NCIT:C97165]
synonym: "disorder of arithmetical skills" EXACT [DOID:12568]
synonym: "dyscalculia" EXACT [MONDO:ambiguous, NCIT:C97165]
synonym: "dyscalculia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "mathematics disorder" EXACT [DOID:12568, ICD9CM:315.1]
xref: DOID:12568 {source="MONDO:equivalentTo"}
xref: HP:0002442 {source="MONDO:otherHierarchy"}
xref: ICD9:315.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:452779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060705 {source="MONDO:equivalentTo"}
xref: NCIT:C97165 {source="MONDO:equivalentTo"}
xref: SCTID:47916000 {source="MONDO:equivalentTo"}
xref: UMLS:C0869474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452779"}
is_a: MONDO:0004681 {source="DOID:12568", source="MESH:D060705", source="NCIT:C97165"} ! learning disability
property_value: IAO:0000589 "dyscalculia (disease)" xsd:string

[Term]
id: MONDO:0001553
name: phacolytic glaucoma
def: "An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens." [https://medical-dictionary.thefreedictionary.com/phacolytic+glaucoma]
synonym: "endophthalmitis phacoanaphylactica" RELATED EXCLUDE [https://medical-dictionary.thefreedictionary.com/phacolytic+glaucoma]
xref: DOID:12570 {source="MONDO:equivalentTo"}
xref: ICD9:365.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12570"}
xref: MEDGEN:508901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:32893002 {source="MONDO:equivalentTo", source="DOID:12570"}
xref: UMLS:C0152137 {source="MEDGEN:508901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001554 {source="DOID:12570"} ! phacogenic glaucoma
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune disease

[Term]
id: MONDO:0001554
name: phacogenic glaucoma
def: "Secondary glaucoma caused by either excessive size or spheric shape of the lens." [https://medical-dictionary.thefreedictionary.com/phacogenic+glaucoma]
synonym: "lens induced angle closure glaucoma" RELATED []
synonym: "lens swelling glaucoma" RELATED []
synonym: "phacomorphic glaucoma" EXACT [https://medical-dictionary.thefreedictionary.com/phacogenic+glaucoma]
xref: DOID:12571 {source="MONDO:equivalentTo"}
xref: ICD9:365.59 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:12571"}
xref: MEDGEN:543189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:392300000 {source="MONDO:equivalentTo"}
xref: SCTID:84333006 {source="DOID:12571"}
xref: UMLS:C0271142 {source="MEDGEN:543189", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005041 {source="DOID:12571"} ! glaucoma

[Term]
id: MONDO:0001555
name: neonatal thyrotoxicosis
def: "A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins." [NCIT:P378]
synonym: "infantile hyperthyroidism" EXACT [NCIT:C114906]
xref: DOID:12573 {source="MONDO:equivalentTo"}
xref: ICD10CM:P72.1 {source="DOID:12573"}
xref: ICD9:775.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12573"}
xref: MEDGEN:510684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114906 {source="MONDO:equivalentTo", source="DOID:12573"}
xref: SCTID:13795004 {source="MONDO:equivalentTo", source="DOID:12573"}
xref: UMLS:C0158983 {source="MEDGEN:510684", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010138 {source="DOID:12573", source="NCIT:C114906"} ! thyrotoxicosis

[Term]
id: MONDO:0001556
name: urethral obstruction
def: "Blockage of the normal flow of urine in the urethra." [NCIT:P378]
synonym: "obstruction of urethra" EXACT [DOID:12577]
synonym: "urethral obstruction" EXACT [MONDO:ambiguous]
synonym: "urethral obstruction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12577 {source="MONDO:equivalentTo"}
xref: HP:0000796 {source="MONDO:otherHierarchy"}
xref: ICD9:599.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:12015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014524 {source="MONDO:equivalentTo", source="DOID:12577"}
xref: NCIT:C79804 {source="MONDO:otherHierarchy", source="DOID:12577"}
xref: SCTID:95588004 {source="MONDO:equivalentTo", source="DOID:12577"}
xref: UMLS:C0041972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12015"}
is_a: MONDO:0004184 {source="DOID:12577", source="MESH:D014524"} ! urethral disorder
property_value: IAO:0000589 "urethral obstruction (disease)" xsd:string

[Term]
id: MONDO:0001557
name: olecranon bursitis
def: "A bursitis that involves the olecranon." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "bursitis of elbow" EXACT [DOID:12581]
synonym: "bursitis of elbow region" EXACT [DOID:12581]
synonym: "bursitis of olecranon" EXACT [MONDO:design_pattern]
synonym: "capped elbow" EXACT [DOID:12581]
synonym: "elbow bursitis" EXACT [DOID:12581]
synonym: "elbow bursitis (& olecranon)" EXACT [DOID:12581]
synonym: "miner's elbow" EXACT [DOID:12581]
synonym: "Miners' elbow" EXACT [DOID:12581]
synonym: "olecranon bursitis" EXACT [MONDO:patterns/location]
synonym: "shoe boil" EXACT [DOID:12581]
xref: DOID:12581 {source="MONDO:equivalentTo"}
xref: ICD10CM:M70.2 {source="MONDO:equivalentTo", source="DOID:12581"}
xref: ICD9:726.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12581"}
xref: MEDGEN:538225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156680002 {source="DOID:12581"}
xref: SCTID:202930004 {source="DOID:12581"}
xref: SCTID:270542002 {source="DOID:12581"}
xref: SCTID:424548006 {source="DOID:12581"}
xref: SCTID:425940002 {source="MONDO:equivalentTo", source="DOID:12581"}
xref: SCTID:63517006 {source="DOID:12581"}
xref: SCTID:74859007 {source="DOID:12581"}
xref: SCTID:77299006 {source="DOID:12581"}
xref: UMLS:C0263962 {source="MEDGEN:538225", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002183 {source="DOID:12581"} ! enthesopathy
is_a: MONDO:0002471 {source="https://orcid.org/0000-0002-0736-9199"} ! bursitis
intersection_of: MONDO:0002471 ! bursitis
intersection_of: disease_has_location UBERON:0001490 ! elbow joint

[Term]
id: MONDO:0001558
name: Potter sequence
def: "A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure." [NCIT:P378]
comment: Editor note: check for subtypes, relationship to OMIM:263200
subset: otar {source="MONDO:OTAR"}
synonym: "oligohydramnios sequence" EXACT [GARD:0004462, NCIT:C40435]
synonym: "Potter syndrome" EXACT [DOID:12594, GARD:0004462]
synonym: "Potter's sequence" EXACT [NCIT:C40435]
synonym: "Potter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:12594 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q60.6 {source="MONDO:equivalentTo", source="DOID:12594"}
xref: MEDGEN:472617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200157 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C40435 {source="MONDO:equivalentTo", source="DOID:12594"}
xref: SCTID:204947004 {source="DOID:12594"}
xref: SCTID:41962002 {source="MONDO:equivalentTo", source="DOID:12594"}
xref: UMLS:C0178426 {source="MEDGEN:472617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C40435"} ! syndromic disease
is_a: MONDO:0005881 {source="DOID:12594"} ! oligohydramnios
disjoint_from: MONDO:0015986 {source="DOID:0080200"} ! bilateral renal agenesis

[Term]
id: MONDO:0001559
name: perineocele
xref: DOID:12637 {source="MONDO:equivalentTo"}
xref: ICD10CM:N81.81 {source="DOID:12637", source="MONDO:equivalentTo"}
xref: ICD9:618.05 {source="DOID:12637"}
xref: MEDGEN:1843478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1456251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843478"}
is_a: MONDO:0001592 {source="DOID:12637", source="ICD10CM:N81.81", source="ICD10CM:N81.81/inferred"} ! prolapse of female genital organ

[Term]
id: MONDO:0001560
name: hypertrophic pyloric stenosis
def: "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital constriction of the pylorus" EXACT [NCIT:C98952]
synonym: "congenital hypertrophic pyloric stenosis" EXACT [DOID:12638]
synonym: "congenital Hypertrophy of the pylorus" EXACT [NCIT:C98952]
synonym: "congenital or infantile stricture of pylorus" EXACT [DOID:12638]
synonym: "congenital pyloric stenosis" EXACT [NCIT:C98952]
synonym: "congenital stricture of the pylorus" EXACT [NCIT:C98952]
synonym: "IHPS" EXACT ABBREVIATION []
synonym: "infantile constriction of the pylorus" EXACT [NCIT:C98952]
synonym: "infantile hypertrophic pyloric stenosis" EXACT [MONDO:0005421]
synonym: "infantile Hypertrophy of the pylorus" EXACT [NCIT:C98952]
synonym: "infantile pyloric stenosis" EXACT [NCIT:C98952]
synonym: "infantile stricture of the pylorus" EXACT [NCIT:C98952]
synonym: "pyloric stenosis, infantile" EXACT [MONDO:0000092]
xref: DOID:12638 {source="MONDO:equivalentTo"}
xref: EFO:0004707 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q40.0 {source="DOID:12638", source="MONDO:equivalentTo"}
xref: ICD9:750.5 {source="DOID:12638", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D046248 {source="DOID:12638", source="MONDO:equivalentTo"}
xref: NCIT:C98952 {source="DOID:12638", source="MONDO:equivalentTo"}
xref: SCTID:48644003 {source="DOID:12638", source="MONDO:equivalentTo"}
is_a: MONDO:0001561 {source="DOID:12638", source="DOID:12638/inferred", source="MESH:D046248", source="MESH:D046248/inferred", source="NCIT:C98952"} ! pyloric stenosis
is_a: MONDO:0005020 {source="EFO:0004707"} ! intestinal disorder

[Term]
id: MONDO:0001561
name: pyloric stenosis
def: "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." [NCIT:C34966]
subset: otar {source="MONDO:OTAR"}
synonym: "gastric outflow obstruction" EXACT [DOID:3122]
synonym: "gastric outlet obstruction" EXACT [MONDO:0006768, NCIT:C34966]
synonym: "GOO" EXACT ABBREVIATION [Wikipedia:Gastric_outlet_obstruction]
synonym: "pyloric stenosis" EXACT [MONDO:ambiguous, NCIT:C34966]
synonym: "pyloric stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12639 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:3122 {source="EFO:1000947", source="MONDO:equivalentTo"}
xref: EFO:0009626 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002021 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K31.1 {source="DOID:12639"}
xref: MedDRA:10062499 {source="EFO:1000947"}
xref: MEDGEN:18780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011707 {source="MONDO:equivalentTo", source="DOID:12639"}
xref: MESH:D017219 {source="DOID:3122", source="EFO:1000947", source="MONDO:equivalentTo"}
xref: NCIT:C34966 {source="MONDO:equivalentTo", source="DOID:12639"}
xref: SCTID:196759006 {source="DOID:3122"}
xref: SCTID:244815007 {source="DOID:3122"}
xref: SCTID:367403001 {source="MONDO:equivalentTo", source="DOID:12639"}
xref: UMLS:C0034194 {source="MEDGEN:18780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004298 {source="DOID:12639/inferred", source="DOID:3122", source="MESH:D011707/inferred", source="MESH:D017219", source="NCIT:C34966/inferred"} ! stomach disorder
property_value: IAO:0000589 "pyloric stenosis (disease)" xsd:string

[Term]
id: MONDO:0001562
name: displacement of cardia through esophageal hiatus
synonym: "congenital hiatus hernia" EXACT [DOID:12641, ICD9CM:750.6]
xref: DOID:12641 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q40.1 {source="MONDO:equivalentTo", source="DOID:12641"}
xref: ICD9:750.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12641"}
xref: MEDGEN:510622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:47028006 {source="MONDO:equivalentTo", source="DOID:12641"}
xref: UMLS:C0158674 {source="MEDGEN:510622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007721 {source="DOID:12641"} ! hiatus hernia

[Term]
id: MONDO:0001563
name: vestibulocochlear nerve disorder
def: "A disease involving the vestibulocochlear nerve." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "acoustic nerve disease" EXACT [DOID:12657, ICD9CM:388.5]
synonym: "acoustic nerve disorder" EXACT [NCIT:C27207]
synonym: "acoustic nerve disorder NOS" EXACT [NCIT:C27207]
synonym: "disease of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vestibulocochlear nerve" EXACT []
synonym: "disorder of acoustic nerve" EXACT []
synonym: "disorder of acoustovestibular nerve" RELATED []
synonym: "disorder of eighth nerve" RELATED []
synonym: "disorder of the vestibulocochlear nerve" RELATED []
synonym: "disorder of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top]
synonym: "vestibulocochlear nerve disease" EXACT [MONDO:patterns/location]
synonym: "vestibulocochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vestibulocochlear nerve disorder" EXACT [NCIT:C27207]
xref: DOID:12657 {source="MONDO:equivalentTo"}
xref: ICD10CM:H93.3 {source="DOID:12657"}
xref: ICD10CM:H93.3X {source="DOID:12657"}
xref: ICD9:388.5 {source="DOID:12657"}
xref: MEDGEN:1724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000160 {source="DOID:12657", source="MONDO:equivalentTo"}
xref: NCIT:C27207 {source="DOID:12657", source="MONDO:equivalentTo"}
xref: SCTID:194402005 {source="DOID:12657"}
xref: SCTID:77949003 {source="DOID:12657", source="MONDO:equivalentTo"}
xref: UMLS:C0001163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1724"}
is_a: MONDO:0002453 {source="DOID:12657", source="MESH:D000160"} ! retrocochlear disease
is_a: MONDO:0003569 {source="DOID:12657", source="MESH:D000160", source="MONDO:Redundant", source="NCIT:C27207"} ! cranial nerve neuropathy
is_a: MONDO:0003620 {source="DOID:12657/inferred", source="MONDO:Redundant"} ! peripheral nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001648 ! vestibulocochlear nerve

[Term]
id: MONDO:0001564
name: binocular vision disease
def: "Any inability to efficiently utilize and/or sustain binocular vision." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "binocular vision disorder" EXACT [NCIT:C34422]
synonym: "simultaneous visual perception without fusion" NARROW [DOID:12667]
xref: DOID:12667 {source="MONDO:equivalentTo"}
xref: EFO:0009535 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H53.30 {source="DOID:12667"}
xref: ICD9:368.30 {source="DOID:12667", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34422 {source="DOID:12667", source="MONDO:equivalentTo"}
xref: SCTID:193658001 {source="DOID:12667"}
xref: SCTID:83275001 {source="DOID:12667", source="MONDO:equivalentTo"}
xref: UMLS:C0005461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:571"}
is_a: MONDO:0021084 {source="NCIT:C34422/inferred"} ! vision disorder
relationship: excluded_subClassOf MONDO:0003432 {source="DOID:12667", source="https://orcid.org/0000-0001-5208-3432"} ! strabismus

[Term]
id: MONDO:0001565
name: abnormal retinal correspondence
xref: DOID:12668 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.31 {source="DOID:12668", source="MONDO:equivalentTo"}
xref: ICD9:368.34 {source="DOID:12668", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:79195003 {source="DOID:12668", source="MONDO:equivalentTo"}
xref: UMLS:C0155010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509763"}
is_a: MONDO:0001564 {source="DOID:12668"} ! binocular vision disease

[Term]
id: MONDO:0001566
name: hypercalcemia disease
def: "Abnormally high concentration of calcium in the peripheral blood." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hypercalcemia" EXACT [MONDO:ambiguous]
xref: DOID:12678 {source="MONDO:equivalentTo"}
xref: HP:0003072 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E83.52 {source="DOID:12678", source="MONDO:equivalentTo"}
xref: ICD9:275.42 {source="DOID:12678", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:5686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006934 {source="DOID:12678", source="MONDO:equivalentTo"}
xref: NCIT:C3112 {source="DOID:12678", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:154752005 {source="DOID:12678"}
xref: SCTID:166702002 {source="DOID:12678"}
xref: SCTID:267505006 {source="DOID:12678"}
xref: SCTID:66931009 {source="DOID:12678", source="MONDO:equivalentTo"}
xref: UMLS:C0020437 {source="MEDGEN:5686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005557 {source="DOID:12678", source="MESH:D006934"} ! calcium metabolic disease
relationship: disease_has_major_feature HP:0003072 ! Hypercalcemia

[Term]
id: MONDO:0001567
name: nephrocalcinosis
def: "Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys." [https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis]
subset: otar {source="MONDO:OTAR"}
synonym: "hypercalcemic nephropathy" RELATED [GARD:0007177]
xref: DOID:12679 {source="MONDO:equivalentTo"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009397 {source="DOID:12679", source="MONDO:equivalentTo"}
xref: NCIT:C84918 {source="DOID:12679", source="MONDO:equivalentTo"}
xref: SCTID:154752005 {source="DOID:12679"}
xref: SCTID:190863003 {source="DOID:12679"}
xref: SCTID:267505006 {source="DOID:12679"}
xref: SCTID:48638002 {source="DOID:12679", source="MONDO:equivalentTo"}
xref: UMLS:C0027709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10222"}
is_a: MONDO:0002123 {source="DOID:12679", source="MESH:D009397"} ! calcinosis
is_a: MONDO:0005240 {source="DOID:12679", source="MESH:D009397", source="NCIT:C84918/inferred"} ! kidney disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis" xsd:anyURI {source="GARD:0007177"}

[Term]
id: MONDO:0001568
name: mixed receptive-expressive language disorder
def: "A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." [NCIT:P378]
xref: DOID:12685 {source="MONDO:equivalentTo"}
xref: ICD10CM:F80.2 {source="MONDO:equivalentTo", source="DOID:12685"}
xref: ICD9:315.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12685"}
xref: MEDGEN:452301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92563 {source="MONDO:equivalentTo", source="DOID:12685"}
xref: SCTID:25766007 {source="MONDO:equivalentTo", source="DOID:12685"}
xref: UMLS:C0236827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452301"}
is_a: MONDO:0002182 {source="DOID:12685", source="MONDO:Redundant"} ! communication disorder
is_a: MONDO:0004750 {source="NCIT:C92563"} ! language disorder

[Term]
id: MONDO:0001569
name: acoustic neuroma
def: "A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing." [NCIT:P378]
subset: gard_rare {source="GARD:223", source="MONDO:GARD"}
subset: nord_rare {source="NORD:715", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:252175"}
subset: rare
synonym: "acoustic neurilemmoma" EXACT [NCIT:C3276]
synonym: "acoustic neurilemoma" EXACT [GARD:0000223, Orphanet:252175]
synonym: "acoustic neurinoma" EXACT [GARD:0000223, Orphanet:252175]
synonym: "acoustic neuroma" EXACT [NCIT:C3276, Orphanet:252175]
synonym: "acoustic schwannoma" EXACT [NCIT:C3276]
synonym: "acoustic tumor" BROAD [GARD:0000223]
synonym: "acoustic tumour" BROAD OMO:0003005 []
synonym: "neurilemoma, acoustic" EXACT [NCIT:C3276]
synonym: "neurinoma of the acoustic nerve" EXACT [GARD:0000223]
synonym: "neuroma, acoustic" EXACT [NCIT:C3276]
synonym: "vestibular neurilemmoma" EXACT [DOID:12689, NCIT:C3276]
synonym: "vestibular schwannoma" EXACT [DOID:12689, MONDO:ambiguous, NCIT:C3276]
synonym: "vestibular schwannoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: CSP:2012-6947 {source="DOID:12689"}
xref: DOID:12689 {source="MONDO:equivalentTo"}
xref: GARD:223 {source="MONDO:GARD"}
xref: HP:0009588 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D33.3 {source="Orphanet:252175", source="Orphanet:252175/e"}
xref: MedDRA:10000523 {source="Orphanet:252175", source="Orphanet:252175/e"}
xref: MEDGEN:45062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009464 {source="DOID:12689", source="MONDO:equivalentTo"}
xref: NCIT:C3276 {source="DOID:12689", source="MONDO:equivalentTo"}
xref: NORD:715 {source="MONDO:NORD"}
xref: Orphanet:252175 {source="MONDO:equivalentTo"}
xref: SCTID:126949007 {source="DOID:12689", source="MONDO:equivalentTo"}
xref: SCTID:154621002 {source="DOID:12689"}
xref: SCTID:269643009 {source="DOID:12689"}
xref: SCTID:389982003 {source="DOID:12689"}
xref: SCTID:985004 {source="DOID:12689"}
xref: UMLS:C0027859 {source="MEDGEN:45062", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002546 {source="DOID:12689", source="NCIT:C3276", source="Orphanet:252175"} ! schwannoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4201" xsd:anyURI
property_value: IAO:0000589 "vestibular schwannoma (disease)" xsd:string

[Term]
id: MONDO:0001570
name: obsolete locked-in syndrome
is_obsolete: true
replaced_by: MONDO:0016567

[Term]
id: MONDO:0001571
name: gynecomastia disorder
def: "Development of breast tissue in males." [NCIT:C3073]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hypertrophy of breast of male organism" EXACT []
synonym: "male organism hypertrophy of breast" EXACT [MONDO:patterns/location]
xref: DOID:12698 {source="MONDO:equivalentTo"}
xref: HP:0000771
xref: ICD10CM:N62 {source="DOID:12698"}
xref: MEDGEN:6694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006177 {source="MONDO:equivalentTo", source="DOID:12698"}
xref: NCIT:C3073 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:12698"}
xref: SCTID:155963008 {source="DOID:12698"}
xref: SCTID:198112004 {source="DOID:12698"}
xref: SCTID:266646002 {source="DOID:12698"}
xref: SCTID:4754008 {source="MONDO:equivalentTo", source="DOID:12698"}
xref: UMLS:C0018418 {source="MEDGEN:6694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002145 {source="DOID:12698"} ! disorder of sexual differentiation
is_a: MONDO:0002657 {source="MESH:D006177", source="NCIT:C3073/inferred"} ! breast disorder
intersection_of: MONDO:0001100 ! hypertrophy of breast
intersection_of: disease_has_location UBERON:0003101 ! male organism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4949" xsd:anyURI

[Term]
id: MONDO:0001572
name: leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C3157]
subset: otar {source="MONDO:OTAR"}
synonym: "fibroid" EXACT [NCIT:C3157]
synonym: "fibroid neoplasm" EXACT [NCIT:C3157]
synonym: "fibroid tumor" EXACT [NCIT:C3157]
synonym: "fibroid tumour" EXACT OMO:0003005 []
synonym: "leiomyoma" EXACT [NCIT:C3157]
synonym: "leiomyoma, benign" EXACT [NCIT:C3157]
synonym: "leiomyomatous neoplasm" EXACT [NCIT:C3157]
synonym: "leiomyomatous neoplasm (morphologic abnormality)" EXACT [DOID:127]
synonym: "leiomyomatous tumor" EXACT [DOID:127, NCIT:C3157]
synonym: "leiomyomatous tumour" EXACT OMO:0003005 []
xref: DOID:127 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8890/0 {source="NCIT:C3157"}
xref: MEDGEN:9710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007889 {source="DOID:127", source="MONDO:equivalentTo"}
xref: NCIT:C3157 {source="DOID:127", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:146801000119103 {source="MONDO:equivalentTo"}
xref: SCTID:189787000 {source="DOID:127"}
xref: SCTID:189788005 {source="DOID:127"}
xref: SCTID:189793008 {source="DOID:127"}
xref: SCTID:702978006 {source="DOID:127"}
xref: UMLS:C0023267 {source="MEDGEN:9710", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005165 {source="DOID:127", source="DOID:127/inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0006106 {source="NCIT:C3157"} ! benign smooth muscle neoplasm

[Term]
id: MONDO:0001573
name: obsolete Friedreich ataxia
is_obsolete: true
replaced_by: MONDO:0009245

[Term]
id: MONDO:0001574
name: capillary disorder
def: "A disease involving a capillary." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "capillary disease" EXACT [MONDO:patterns/location]
synonym: "capillary disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of capillaries" EXACT [DOID:1271]
synonym: "disease of capillary" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of capillary" EXACT []
synonym: "disorder of capillary" EXACT [MONDO:patterns/location_top]
xref: DOID:1271 {source="MONDO:equivalentTo"}
xref: ICD10CM:I78 {source="DOID:1271"}
xref: ICD10CM:I78.9 {source="DOID:1271"}
xref: ICD9:448 {source="DOID:1271"}
xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:510074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155446001 {source="DOID:1271"}
xref: SCTID:155449008 {source="DOID:1271"}
xref: SCTID:195250004 {source="DOID:1271"}
xref: SCTID:195380006 {source="DOID:1271"}
xref: SCTID:195390003 {source="DOID:1271"}
xref: SCTID:266324004 {source="DOID:1271"}
xref: SCTID:57223003 {source="DOID:1271"}
xref: SCTID:58729003 {source="MONDO:equivalentTo", source="DOID:1271"}
xref: UMLS:C0155765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510074"}
is_a: MONDO:0005385 {source="DOID:1271", source="MONDO:Redundant"} ! vascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001982 ! capillary

[Term]
id: MONDO:0001575
name: chronic gonococcal salpingitis
def: "Chronic form of gonococcal salpingitis." [MONDO:patterns/chronic]
synonym: "gonococcal salpingitis" BROAD [DOID:12718]
synonym: "gonococcal salpingitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:12718 {source="MONDO:equivalentTo"}
xref: ICD9:098.37 {source="DOID:12718"}
xref: MEDGEN:509205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:53529004 {source="MONDO:equivalentTo", source="DOID:12718"}
xref: UMLS:C0153208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509205"}
is_a: MONDO:0003617 {source="DOID:12718", source="MONDO:Redundant"} ! chronic salpingitis
is_a: MONDO:0021159 {source="MONDO:Redundant"} ! gonococcal salpingitis
intersection_of: MONDO:0021159 ! gonococcal salpingitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001576
name: telangiectasis
def: "Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "telangiectasia" EXACT [DOID:1272, NCIT:C28194]
xref: DOID:1272 {source="MONDO:equivalentTo"}
xref: MEDGEN:21088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013684 {source="MONDO:equivalentTo", source="DOID:1272"}
xref: NCIT:C28194 {source="MONDO:equivalentTo", source="DOID:1272"}
xref: SCTID:112641009 {source="DOID:1272"}
xref: SCTID:155449008 {source="DOID:1272"}
xref: SCTID:247479008 {source="MONDO:equivalentTo", source="DOID:1272"}
xref: SCTID:266324004 {source="DOID:1272"}
xref: SCTID:276328002 {source="DOID:1272"}
xref: UMLS:C0039446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21088"}
is_a: MONDO:0005294 {source="DOID:1272"} ! peripheral vascular disease
is_a: MONDO:0021658 {source="NCIT:C28194"} ! vascular ectasia

[Term]
id: MONDO:0001577
name: respiratory syncytial virus infectious disease
def: "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." [NCIT:C3354]
subset: otar {source="MONDO:OTAR"}
synonym: "Human respiratory syncytial virus infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "infections, Human respiratory syncytial virus" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "respiratory syncytial virus infection" EXACT [NCIT:C3354]
xref: DOID:1273 {source="MONDO:equivalentTo"}
xref: EFO:1001413 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:48424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018357 {source="DOID:1273", source="MONDO:equivalentTo"}
xref: NCIT:C3354 {source="DOID:1273", source="MONDO:equivalentTo"}
xref: SCTID:186750007 {source="DOID:1273"}
xref: SCTID:55735004 {source="DOID:1273", source="MONDO:equivalentTo"}
xref: UMLS:C0035235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48424"}
is_a: MONDO:0005108 {source="DOID:1273", source="MESH:D018357/inferred", source="MONDO:Redundant", source="NCIT:C3354/inferred"} ! viral infectious disease
is_a: MONDO:0024352 {source="NCIT:C3354"} ! viral respiratory tract infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11250 ! disease has primary infectious agent human respiratory syncytial virus

[Term]
id: MONDO:0001578
name: obsolete hernia of ovary and fallopian tube
xref: DOID:12735 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N83.4 {source="DOID:12735"}
xref: ICD9:620.4 {source="DOID:12735"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: HP:0100790

[Term]
id: MONDO:0001579
name: corneal staphyloma
xref: DOID:12753 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.72 {source="DOID:12753"}
xref: ICD9:371.73 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12753"}
xref: MEDGEN:509034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193849005 {source="DOID:12753"}
xref: SCTID:52476003 {source="MONDO:equivalentTo", source="DOID:12753"}
xref: UMLS:C0152440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509034"}
is_a: MONDO:0000942 {source="DOID:12753"} ! corneal disorder

[Term]
id: MONDO:0001580
name: lacrimal duct cancer
def: "A primary or metastatic malignant neoplasm affecting the lacrimal duct." [NCIT:C3567]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of lacrimal drainage system" EXACT [MONDO:patterns/cancer]
synonym: "lacrimal drainage system cancer" EXACT [MONDO:patterns/location]
synonym: "malignant lacrimal drainage system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant lacrimal duct neoplasm" EXACT [NCIT:C3567]
synonym: "malignant lacrimal duct tumor" EXACT [NCIT:C3567]
synonym: "malignant lacrimal duct tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of lacrimal drainage system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lacrimal duct" EXACT [DOID:12756, ICD9CM:190.7, NCIT:C3567]
synonym: "malignant neoplasm of the lacrimal duct" EXACT [NCIT:C3567]
synonym: "malignant tumor of lacrimal duct" EXACT [DOID:12756, NCIT:C3567]
synonym: "malignant tumor of the lacrimal duct" EXACT [NCIT:C3567]
synonym: "malignant tumour of lacrimal duct" EXACT OMO:0003005 []
synonym: "malignant tumour of the lacrimal duct" EXACT OMO:0003005 []
xref: DOID:12756 {source="MONDO:equivalentTo"}
xref: ICD9:190.7 {source="DOID:12756", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3567 {source="DOID:12756", source="MONDO:equivalentTo"}
xref: SCTID:188274004 {source="DOID:12756", source="MONDO:equivalentTo"}
xref: SCTID:188275003 {source="DOID:12756"}
xref: SCTID:93852003 {source="DOID:12756"}
xref: UMLS:C0153631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57795"}
is_a: MONDO:0001854 {source="MONDO:Entailed"} ! lacrimal apparatus disorder
is_a: MONDO:0002460 {source="DOID:12756", source="MONDO:Redundant", source="NCIT:C3567"} ! lacrimal system cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001850 ! lacrimal drainage system

[Term]
id: MONDO:0001581
name: obsolete tolosa-hunt syndrome
is_obsolete: true
replaced_by: MONDO:0018983

[Term]
id: MONDO:0001582
name: cicatricial ectropion
xref: DOID:12782 {source="MONDO:equivalentTo"}
xref: ICD9:374.14 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12782"}
xref: MEDGEN:102327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28914006 {source="MONDO:equivalentTo", source="DOID:12782"}
xref: UMLS:C0155196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102327"}
is_a: MONDO:0002043 {source="DOID:12782"} ! ectropion

[Term]
id: MONDO:0001583
name: diabetic polyneuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes mellitus with polyneuropathy" EXACT [DOID:12785]
synonym: "polyneuropathy in diabetes" EXACT [DOID:12785, ICD9CM:357.2]
xref: DOID:12785 {source="MONDO:equivalentTo"}
xref: ICD9:357.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12785"}
xref: MEDGEN:75763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003929 {source="DOID:12785"}
xref: SCTID:190349003 {source="DOID:12785"}
xref: SCTID:193182005 {source="DOID:12785"}
xref: SCTID:49455004 {source="MONDO:equivalentTo", source="DOID:12785"}
xref: UMLS:C0271680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75763"}
is_a: MONDO:0006626 {source="DOID:12785"} ! diabetic neuropathy

[Term]
id: MONDO:0001584
name: ocular motility disease
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of eye movements" EXACT [DOID:1279]
synonym: "eye movement disorder" EXACT [DOID:1279]
xref: DOID:1279 {source="MONDO:equivalentTo"}
xref: EFO:1001990 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H49-H52 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:378.9 {source="MONDO:equivalentTo", source="DOID:1279", source="MONDO:i2s"}
xref: MEDGEN:14457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015835 {source="DOID:1279"}
xref: SCTID:45030009 {source="MONDO:equivalentTo", source="DOID:1279"}
xref: UMLS:C0028850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14457"}
is_a: MONDO:0003569 {source="DOID:1279"} ! cranial nerve neuropathy

[Term]
id: MONDO:0001585
name: hallucinogen abuse
def: "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." [DOID:12797, http://en.wikipedia.org/wiki/Hallucinogen]
xref: DOID:12797 {source="MONDO:equivalentTo"}
xref: ICD10CM:F16.1 {source="DOID:12797"}
xref: ICD9:305.3 {source="DOID:12797"}
xref: MEDGEN:507771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:74851005 {source="MONDO:equivalentTo", source="DOID:12797"}
xref: UMLS:C0018526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507771"}
is_a: MONDO:0002491 {source="DOID:12797"} ! substance abuse

[Term]
id: MONDO:0001586
name: mucopolysaccharidosis type 1
def: "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1462"}
subset: ordo_disorder {source="Orphanet:579"}
subset: orphanet_rare {source="Orphanet:579"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha-L-iduronidase deficiency" EXACT [Orphanet:579]
synonym: "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)" RELATED [GARD:0010335]
synonym: "Hurler syndrome" NARROW [DOID:12802]
synonym: "Hurler syndrome (subtype)" RELATED [GARD:0010335]
synonym: "Hurler-Scheie syndrome" RELATED EXCLUDE [DOID:12802]
synonym: "Hurler-Scheie syndrome (subtype)" RELATED [GARD:0010335]
synonym: "IDUA deficiency" RELATED [GARD:0010335]
synonym: "iduronidase deficiency disease" EXACT [DOID:12802]
synonym: "lipochondrodystrophy" EXACT [DOID:12802]
synonym: "MPS 1" RELATED [GARD:0010335]
synonym: "MPS I" RELATED [GARD:0010335]
synonym: "MPS I - Hurler syndrome" EXACT [DOID:12802]
synonym: "MPS1" EXACT ABBREVIATION [Orphanet:579]
synonym: "MPSI" EXACT ABBREVIATION [Orphanet:579]
synonym: "mucopolysaccharidosis I" RELATED [DOID:12802]
synonym: "mucopolysaccharidosis type 1" EXACT CLINGEN_LABEL [MONDO:0018934]
synonym: "Mucopolysaccharidosis Type I" EXACT [NORD:1462]
synonym: "mucopolysaccharidosis type I" EXACT [DOID:12802, MONDORULE:1, Orphanet:579]
synonym: "mucopolysaccharidosis, MPS-I" EXACT [DOID:12802]
synonym: "mucopolysaccharidosis, type 1" EXACT [DOID:12802]
synonym: "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)" RELATED [GARD:0010335]
synonym: "severe MPS I (subtype, also known as Hurler syndrome)" RELATED [GARD:0010335]
xref: DOID:12802 {source="MONDO:equivalentTo"}
xref: GARD:10335 {source="MONDO:GARD"}
xref: ICD10CM:E76.0 {source="Orphanet:579", source="DOID:12802", source="Orphanet:579/e", source="Orphanet:579/specific"}
xref: icd11.foundation:1539226250 {source="Orphanet:579", source="MONDO:equivalentTo"}
xref: MedDRA:10056886 {source="Orphanet:579", source="Orphanet:579/e"}
xref: MEDGEN:44171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008059 {source="Orphanet:579", source="DOID:12802", source="Orphanet:579/e"}
xref: NANDO:2200547 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201168 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85053 {source="DOID:12802", source="MONDO:equivalentTo"}
xref: NORD:1462 {source="MONDO:NORD"}
xref: Orphanet:579 {source="MONDO:equivalentTo"}
xref: SCTID:190938004 {source="DOID:12802"}
xref: SCTID:267453008 {source="DOID:12802"}
xref: SCTID:75610003 {source="DOID:12802", source="MONDO:equivalentTo"}
xref: UMLS:C0023786 {source="MEDGEN:44171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019249 {source="DOID:12802", source="NCIT:C85053", source="Orphanet:579"} ! mucopolysaccharidosis
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: excluded_subClassOf MONDO:0020186 {source="Orphanet:579", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow hypertrophy
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0001587
name: obsolete mucopolysaccharidosis type 4
is_obsolete: true
replaced_by: MONDO:0018938

[Term]
id: MONDO:0001588
name: chronic lacrimal gland enlargement
synonym: "chronic enlargement of lacrimal gland" EXACT [DOID:12809, ICD9CM:375.03]
xref: DOID:12809 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.03 {source="DOID:12809"}
xref: ICD9:375.03 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12809"}
xref: MEDGEN:721929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193972008 {source="DOID:12809"}
xref: SCTID:393582003 {source="DOID:12809"}
xref: SCTID:4839005 {source="MONDO:equivalentTo", source="DOID:12809"}
xref: UMLS:C1300133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:721929"}
is_a: MONDO:0004804 {source="DOID:12809"} ! dacryoadenitis
relationship: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0001589
name: obsolete vaginal enterocele
comment: Represents finding.
synonym: "enterocele" BROAD [DOID:1283]
synonym: "vaginal hernia" RELATED []
xref: DOID:1283 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:K46 {source="DOID:1283"}
xref: ICD10CM:N81.5 {source="DOID:1283"}
xref: ICD9:618.6 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1283"}
xref: MESH:D006547 {source="MONDO:relatedTo", source="DOID:1283"}
xref: SCTID:198272003 {source="DOID:1283"}
xref: SCTID:198275001 {source="DOID:1283"}
xref: SCTID:270884000 {source="DOID:1283"}
xref: SCTID:398061002 {source="MONDO:obsoleteEquivalent", source="DOID:1283"}
xref: SCTID:47671001 {source="DOID:1283"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1777" xsd:anyURI
is_obsolete: true
consider: HP:0100672

[Term]
id: MONDO:0001590
name: quadriplegia
def: "Paralysis of all four limbs." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bilateral diplegia" EXACT [NCIT:C50721]
synonym: "tetraplegia" EXACT [DOID:12835]
xref: DOID:12835 {source="MONDO:equivalentTo"}
xref: EFO:0009684 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G82.5 {source="DOID:12835"}
xref: ICD10CM:G82.50 {source="DOID:12835"}
xref: ICD9:344.00 {source="DOID:12835", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:344.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011782 {source="DOID:12835", source="MONDO:equivalentTo"}
xref: NCIT:C50721 {source="DOID:12835", source="MONDO:equivalentTo"}
xref: SCTID:11538006 {source="DOID:12835", source="MONDO:equivalentTo"}
xref: SCTID:155030003 {source="DOID:12835"}
xref: UMLS:C0034372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19617"}
is_a: MONDO:0006496 {source="https://github.com/monarch-initiative/mondo/issues/622"} ! palsy
relationship: excluded_subClassOf MONDO:0002602 {source="DOID:12835", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder

[Term]
id: MONDO:0001591
name: senile entropion
synonym: "involutional entropion" EXACT [DOID:12836]
xref: DOID:12836 {source="MONDO:equivalentTo"}
xref: ICD9:374.01 {source="DOID:12836", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:55408009 {source="DOID:12836", source="MONDO:equivalentTo"}
xref: UMLS:C0155188 {source="MEDGEN:509837", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001519 {source="DOID:12836"} ! entropion

[Term]
id: MONDO:0001592
name: prolapse of female genital organ
comment: Editor note: requires review
subset: otar {source="MONDO:OTAR"}
xref: DOID:1284 {source="MONDO:equivalentTo"}
xref: ICD10CM:N81 {source="MONDO:equivalentTo"}
xref: ICD9:618.8 {source="DOID:1284"}
xref: ICD9:618.89 {source="DOID:1284"}
xref: MEDGEN:510253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:73998008 {source="MONDO:equivalentTo"}
xref: UMLS:C0156349 {source="MEDGEN:510253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:1284"} ! female reproductive system disorder

[Term]
id: MONDO:0001593
name: rectal disorder
def: "A disease that involves the rectum." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of rectum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of rectum" EXACT []
synonym: "disorder of rectum" EXACT [MONDO:patterns/location_top]
synonym: "rectal disorder" EXACT []
synonym: "rectum disease" EXACT [MONDO:patterns/location]
synonym: "rectum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1285 {source="MONDO:equivalentTo"}
xref: EFO:0009685 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:569.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012002 {source="DOID:1285", source="MONDO:equivalentTo"}
xref: SCTID:5964004 {source="DOID:1285", source="MONDO:equivalentTo"}
xref: UMLS:C0034882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19701"}
is_a: MONDO:0005020 {source="DOID:1285", source="MESH:D012002", source="MONDO:Entailed"} ! intestinal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0001594
name: Achilles bursitis
def: "An bursitis involving a pathogenic inflammatory response in the calcaneal tendon." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Achilles bursitis or tendinitis" EXACT [DOID:12857, ICD9CM:726.71]
synonym: "capped hock" EXACT [DOID:12857]
synonym: "Haglund's deformity" EXACT [DOID:12857]
synonym: "Haglund's disease" EXACT [DOID:12857]
xref: DOID:12857 {source="MONDO:equivalentTo"}
xref: ICD10CM:M76.6 {source="DOID:12857"}
xref: ICD9:726.71 {source="DOID:12857"}
xref: MEDGEN:508442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:202879008 {source="DOID:12857"}
xref: SCTID:203394008 {source="DOID:12857"}
xref: SCTID:221695002 {source="DOID:12857"}
xref: SCTID:74859007 {source="DOID:12857"}
xref: SCTID:87494005 {source="DOID:12857"}
xref: UMLS:C0149846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508442"}
is_a: MONDO:0002471 {source="DOID:12857", source="MONDO:Entailed", source="MONDO:Redundant"} ! bursitis
intersection_of: MONDO:0002471 ! bursitis
intersection_of: disease_has_inflammation_site UBERON:0003701 ! calcaneal tendon

[Term]
id: MONDO:0001595
name: choreatic disease
def: "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." [NCIT:C84633]
subset: gard_rare {source="GARD:15152", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1429"}
subset: orphanet_rare {source="Orphanet:1429"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bch" RELATED [OMIM:118700]
synonym: "benign familial chorea" EXACT [Orphanet:1429]
synonym: "BHC" NARROW ABBREVIATION [OMIM:118700]
synonym: "chorea" RELATED EXCLUDE [DOID:12859, MONDO:0007324]
synonym: "chorea, benign hereditary" NARROW [OMIM:118700]
synonym: "hereditary benign chorea" NARROW [Orphanet:1429]
synonym: "hereditary chorea" RELATED [DOID:12859]
synonym: "hereditary progressive chorea without dementia" NARROW [OMIM:118700]
xref: DOID:12859 {source="MONDO:equivalentTo"}
xref: EFO:0004152 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:15152 {source="MONDO:GARD"}
xref: HP:0002072 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G25.5 {source="DOID:12859", source="Orphanet:1429/attributed", source="Orphanet:1429/ntbt", source="Orphanet:1429"}
xref: icd11.foundation:829618737 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:1429"}
xref: ICD9:333.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002819 {source="MONDO:equivalentTo", source="EFO:0004152"}
xref: NCIT:C84633 {source="MONDO:equivalentTo", source="EFO:0004152"}
xref: Orphanet:1429 {source="MONDO:equivalentTo", source="DOID:12859", source="OMIM:118700"}
xref: SCTID:230298007 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:230306001 {source="MONDO:equivalentTo"}
xref: SCTID:271700006 {source="EFO:0004152"}
xref: UMLS:C0008489 {source="MEDGEN:3420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="DOID:12859", source="HP:0002072", source="MESH:D002819/inferred", source="MONDO:Redundant", source="NCIT:C84633", source="Orphanet:1429/inferred"} ! movement disorder
relationship: disease_has_major_feature HP:0002072 ! Chorea
relationship: excluded_subClassOf MONDO:0015548 {source="Orphanet:1429", source="https://orcid.org/0000-0001-5208-3432"} ! Huntington disease-like syndrome
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0001596
name: hypochondriasis
def: "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis." [NCIT:P378]
synonym: "hypochondria" EXACT [DOID:12883, NCIT:C9493]
synonym: "hypochondriacal disorder" EXACT [DOID:12883]
synonym: "hypochondriacal neurosis" EXACT [DOID:12883]
xref: DOID:12883 {source="MONDO:equivalentTo"}
xref: ICD10CM:F45.2 {source="DOID:12883"}
xref: ICD10CM:F45.21 {source="DOID:12883"}
xref: ICD9:300.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12883"}
xref: MEDGEN:9382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006998 {source="MONDO:equivalentTo", source="DOID:12883"}
xref: NCIT:C9493 {source="MONDO:otherHierarchy", source="DOID:12883"}
xref: SCTID:154891008 {source="DOID:12883"}
xref: SCTID:18193002 {source="MONDO:equivalentTo", source="DOID:12883"}
xref: SCTID:192433006 {source="DOID:12883"}
xref: UMLS:C0020604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9382"}
is_a: MONDO:0003117 {source="DOID:12883", source="MESH:D006998"} ! somatoform disorder

[Term]
id: MONDO:0001597
name: submandibular gland disorder
def: "A disease involving the submandibular gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of submandibular gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of submandibular gland" EXACT []
synonym: "disorder of submandibular gland" EXACT [MONDO:patterns/location_top]
synonym: "submandibular gland disease" EXACT [MONDO:patterns/location]
synonym: "submandibular gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:12897 {source="MONDO:equivalentTo"}
xref: MEDGEN:52535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013364 {source="DOID:12897", source="MONDO:equivalentTo"}
xref: UMLS:C0038557 {source="MEDGEN:52535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001142 {source="DOID:12897", source="MESH:D013364", source="MONDO:Entailed", source="MONDO:Redundant"} ! salivary gland disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001736 ! submandibular gland

[Term]
id: MONDO:0001598
name: benign lymphoepithelial lesion of salivary gland
def: "A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma." [NCIT:C3949]
synonym: "benign lymphoepithelial lesion of salivary gland" EXACT [NCIT:C3949]
synonym: "benign lymphoepithelial lesion of the salivary gland" RELATED [NCIT:C3949]
synonym: "benign salivary gland lymphoepithelial lesion" RELATED [NCIT:C3949]
synonym: "Godwin tumor" EXACT [DOID:12899, NCIT:C3949]
synonym: "Godwin tumour" EXACT OMO:0003005 []
xref: DOID:12899 {source="MONDO:equivalentTo"}
xref: ICD10CM:K11.8 {source="DOID:12899"}
xref: ICD9:527.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3949 {source="DOID:12899", source="MONDO:equivalentTo"}
xref: SCTID:45517002 {source="DOID:12899", source="MONDO:equivalentTo"}
xref: UMLS:C0266995 {source="MEDGEN:120595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001142 {source="DOID:12899", source="NCIT:C3949"} ! salivary gland disorder
is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C3949"} ! autoimmune disease

[Term]
id: MONDO:0001599
name: obsolete Mikulicz disease
is_obsolete: true
replaced_by: MONDO:0019191

[Term]
id: MONDO:0001600
name: mucocele of salivary gland
def: "A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction." [NCIT:P378]
synonym: "mucous retention cyst of salivary gland" EXACT [DOID:12904]
synonym: "ranula" EXACT [DOID:12904]
synonym: "salivary cyst" EXACT [DOID:12904, NCIT:C27649]
synonym: "salivary gland mucocele" EXACT [DOID:12904]
xref: DOID:12904 {source="MONDO:equivalentTo"}
xref: ICD10CM:K11.6 {source="DOID:12904", source="MONDO:equivalentTo"}
xref: ICD9:527.6 {source="DOID:12904", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011900 {source="MONDO:equivalentTo"}
xref: NCIT:C27649 {source="DOID:12904", source="MONDO:otherHierarchy"}
xref: SCTID:196508008 {source="DOID:12904"}
xref: SCTID:196509000 {source="DOID:12904"}
xref: SCTID:196512002 {source="DOID:12904"}
xref: SCTID:69825009 {source="DOID:12904", source="MONDO:equivalentTo"}
xref: UMLS:C0026686 {source="MEDGEN:10117", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001142 {source="DOID:12904"} ! salivary gland disorder

[Term]
id: MONDO:0001601
name: Plasmodium ovale malaria
def: "An malaria caused by infection with Plasmodium ovale." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Malariaby Plasmodium ovale" EXACT [DOID:12919]
synonym: "ovale malaria" EXACT [DOID:12919]
xref: DOID:12919 {source="MONDO:equivalentTo"}
xref: ICD10CM:B53.0 {source="MONDO:equivalentTo", source="DOID:12919"}
xref: ICD9:084.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12919"}
xref: MEDGEN:508870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:19341001 {source="MONDO:equivalentTo", source="DOID:12919"}
xref: UMLS:C0152072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508870"}
intersection_of: MONDO:0005136 ! malaria
intersection_of: disease_has_infectious_agent NCBITaxon:36330 ! Plasmodium ovale

[Term]
id: MONDO:0001602
name: labia minora carcinoma
def: "A carcinoma that arises from the labia minora." [NCIT:C9364]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma of labia minora" EXACT [DOID:1293, NCIT:C9364]
synonym: "carcinoma of labium minora" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the labia minora" EXACT [NCIT:C9364]
synonym: "labia minora cancer" BROAD [DOID:1293, NCIT:C9364]
synonym: "labia minora carcinoma" EXACT [NCIT:C9364]
synonym: "labium minora carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:1293 {source="MONDO:equivalentTo"}
xref: MEDGEN:233605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9364 {source="MONDO:equivalentTo", source="DOID:1293"}
xref: UMLS:C1334357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233605"}
is_a: MONDO:0001526 {source="DOID:1293", source="MONDO:Redundant", source="NCIT:C9364"} ! labia minora cancer
is_a: MONDO:0005215 {source="DOID:1293", source="MONDO:Redundant", source="NCIT:C9364"} ! vulvar carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0004014 ! labium minora

[Term]
id: MONDO:0001603
name: paralytic lagophthalmos
synonym: "paralytic lagophthalmos" EXACT [MONDO:ambiguous]
synonym: "paralytic lagophthalmos (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12958 {source="MONDO:equivalentTo"}
xref: HP:0030003 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H02.23 {source="DOID:12958"}
xref: ICD9:374.21 {source="DOID:12958"}
xref: MEDGEN:509844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193938000 {source="DOID:12958"}
xref: SCTID:59890007 {source="DOID:12958"}
xref: UMLS:C0155197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509844"}
is_a: MONDO:0001604 {source="DOID:12958"} ! lagophthalmos
property_value: IAO:0000589 "paralytic lagophthalmos (disease)" xsd:string

[Term]
id: MONDO:0001604
name: lagophthalmos
subset: otar {source="MONDO:OTAR"}
xref: DOID:12959 {source="MONDO:equivalentTo"}
xref: ICD10CM:H02.2 {source="DOID:12959", source="MONDO:equivalentTo"}
xref: ICD10CM:H02.20 {source="DOID:12959"}
xref: ICD9:374.2 {source="DOID:12959"}
xref: ICD9:374.20 {source="DOID:12959"}
xref: MEDGEN:57517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193936001 {source="DOID:12959"}
xref: SCTID:193937005 {source="DOID:12959"}
xref: SCTID:193941009 {source="DOID:12959"}
xref: SCTID:60735000 {source="DOID:12959", source="MONDO:equivalentTo"}
xref: UMLS:C0152226 {source="MEDGEN:57517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003382 {source="DOID:12959"} ! eyelid disorder

[Term]
id: MONDO:0001605
name: obsolete MONDO:0001605
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003730

[Term]
id: MONDO:0001606
name: central nervous system leukemia
def: "Leukemia infiltrating the central nervous system structures." [NCIT:C5440]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system leukaemia (disease)" EXACT OMO:0003005 []
synonym: "central nervous system leukemia" EXACT [NCIT:C5440]
synonym: "central nervous system leukemia (disease)" EXACT [MONDO:patterns/location]
synonym: "CNS leukaemia" EXACT OMO:0003005 []
synonym: "CNS leukemia" EXACT [NCIT:C5440]
synonym: "leukaemia (disease) of central nervous system" EXACT OMO:0003005 []
synonym: "leukaemia of central nervous system" EXACT OMO:0003005 []
synonym: "leukaemia of CNS" EXACT OMO:0003005 []
synonym: "leukaemia of the central nervous system" EXACT OMO:0003005 []
synonym: "leukaemia of the CNS" EXACT OMO:0003005 []
synonym: "leukemia (disease) of central nervous system" EXACT []
synonym: "leukemia of central nervous system" EXACT [NCIT:C5440]
synonym: "leukemia of CNS" EXACT [NCIT:C5440]
synonym: "leukemia of the central nervous system" EXACT [NCIT:C5440]
synonym: "leukemia of the CNS" EXACT [DOID:12969, NCIT:C5440]
xref: DOID:12969 {source="MONDO:equivalentTo"}
xref: MEDGEN:234102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5440 {source="MONDO:equivalentTo", source="DOID:12969", source="MONDO:exact-label-match"}
xref: UMLS:C1332884 {source="MEDGEN:234102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003641 {source="DOID:12969", source="MONDO:Redundant", source="NCIT:C5440"} ! central nervous system hematopoietic neoplasm
is_a: MONDO:0005059 {source="DOID:12969", source="MONDO:Redundant", source="NCIT:C5440"} ! leukemia
intersection_of: MONDO:0005059 ! leukemia
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0001607
name: intrapelvic lymph node leukemic reticuloendotheliosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leukemic reticuloendotheliosis involving intrapelvic lymph nodes" EXACT [DOID:12972, ICD9CM:202.46]
synonym: "leukemic reticuloendotheliosis of intrapelvic lymph nodes" EXACT [DOID:12972]
xref: DOID:12972 {source="MONDO:equivalentTo"}
xref: ICD9:202.46 {source="DOID:12972"}
xref: MEDGEN:509467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188650008 {source="DOID:12972"}
xref: SCTID:93145002 {source="MONDO:equivalentTo", source="DOID:12972"}
xref: UMLS:C0153831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509467"}
is_a: MONDO:0001082 {source="DOID:12972"} ! lymph node cancer
is_a: MONDO:0018935 {source="DOID:12972"} ! hairy cell leukemia

[Term]
id: MONDO:0001608
name: vagus nerve neoplasm
def: "A neoplasm involving a vagus nerve." [MONDO:patterns/neoplasm]
synonym: "neoplasm of tenth cranial nerve" EXACT [NCIT:C5831]
synonym: "neoplasm of the tenth cranial nerve" EXACT [NCIT:C5831]
synonym: "neoplasm of the Vagus nerve" EXACT [NCIT:C5831]
synonym: "neoplasm of Vagus nerve" EXACT [NCIT:C5831]
synonym: "neoplasm of vagus nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "tenth cranial nerve neoplasm" EXACT [NCIT:C5831]
synonym: "tenth cranial nerve neoplasms" EXACT [NCIT:C5831]
synonym: "tenth cranial nerve tumor" EXACT [NCIT:C5831]
synonym: "tenth cranial nerve tumors" EXACT [NCIT:C5831]
synonym: "tenth cranial nerve tumour" EXACT OMO:0003005 []
synonym: "tenth cranial nerve tumours" EXACT OMO:0003005 []
synonym: "tumor of tenth cranial nerve" EXACT [NCIT:C5831]
synonym: "tumor of the tenth cranial nerve" EXACT [NCIT:C5831]
synonym: "tumor of the Vagus nerve" EXACT [NCIT:C5831]
synonym: "tumor of Vagus nerve" EXACT [NCIT:C5831]
synonym: "tumor of vagus nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of tenth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the tenth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the Vagus nerve" EXACT OMO:0003005 []
synonym: "tumour of Vagus nerve" EXACT OMO:0003005 []
synonym: "tumour of vagus nerve" EXACT OMO:0003005 []
synonym: "Vagus nerve neoplasm" EXACT [NCIT:C5831]
synonym: "vagus nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Vagus nerve neoplasms" EXACT [NCIT:C5831]
synonym: "Vagus nerve tumor" EXACT [NCIT:C5831]
synonym: "vagus nerve tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Vagus nerve tumors" EXACT [DOID:12984, NCIT:C5831]
synonym: "Vagus nerve tumour" EXACT OMO:0003005 []
synonym: "vagus nerve tumour" EXACT OMO:0003005 []
synonym: "Vagus nerve tumours" EXACT OMO:0003005 []
synonym: "Xth cranial nerve neoplasms" EXACT [NCIT:C5831]
synonym: "Xth cranial nerve tumors" EXACT [NCIT:C5831]
synonym: "Xth cranial nerve tumours" EXACT OMO:0003005 []
xref: DOID:12984 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5831 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:12984"}
xref: SCTID:126976007 {source="MONDO:equivalentTo", source="DOID:12984"}
xref: UMLS:C1263901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224735"}
is_a: MONDO:0001535 {source="MONDO:Redundant", source="NCIT:C5831"} ! vagus nerve disorder
is_a: MONDO:0002633 {source="DOID:12984", source="MONDO:Redundant", source="NCIT:C5831"} ! cranial nerve neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001759 ! vagus nerve

[Term]
id: MONDO:0001609
name: agranulocytosis
def: "A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "granulocytopenia" EXACT [DOID:12987, NCIT:C2863]
synonym: "Granulocytopenic disorder" EXACT [DOID:12987]
synonym: "Granulopenia" EXACT [DOID:12987]
xref: DOID:12987 {source="MONDO:equivalentTo"}
xref: ICD10CM:D70 {source="DOID:12987", source="MONDO:equivalentTo"}
xref: ICD10WHO:D70 {source="MONDO:equivalentTo"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000380 {source="DOID:12987", source="MONDO:equivalentTo"}
xref: NCIT:C2863 {source="DOID:12987", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:142919000 {source="DOID:12987"}
xref: SCTID:154830007 {source="DOID:12987"}
xref: SCTID:165508008 {source="DOID:12987"}
xref: SCTID:17182001 {source="DOID:12987"}
xref: SCTID:191336001 {source="DOID:12987"}
xref: SCTID:191350006 {source="DOID:12987"}
xref: SCTID:310589001 {source="DOID:12987"}
xref: SCTID:417672002 {source="DOID:12987", source="MONDO:equivalentTo"}
xref: SCTID:72885007 {source="DOID:12987"}
xref: UMLS:C0001824 {source="MONDO:equivalentTo", source="MEDGEN:7932", source="MONDO:MEDGEN"}
is_a: MONDO:0003785 {source="DOID:12987", source="MESH:D000380", source="NCIT:C2863"} ! leukopenia

[Term]
id: MONDO:0001610
name: acute dacryocystitis
def: "Acute form of dacryocystitis." [MONDO:patterns/acute]
synonym: "dacryocystitis - acute" EXACT [DOID:12996]
synonym: "dacryocystitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:12996 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.32 {source="DOID:12996"}
xref: ICD9:375.32 {source="DOID:12996", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193986007 {source="DOID:12996"}
xref: SCTID:25470000 {source="DOID:12996", source="MONDO:equivalentTo"}
xref: UMLS:C0155237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509863"}
is_a: MONDO:0004926 {source="DOID:12996", source="MONDO:Redundant"} ! dacryocystitis
intersection_of: MONDO:0004926 ! dacryocystitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001611
name: phlegmonous dacryocystitis
xref: DOID:12997 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.31 {source="DOID:12997", source="MONDO:equivalentTo"}
xref: ICD9:375.33 {source="DOID:12997", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193988008 {source="DOID:12997"}
xref: SCTID:64324003 {source="DOID:12997", source="MONDO:equivalentTo"}
xref: UMLS:C0155238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509864"}
is_a: MONDO:0004926 {source="DOID:12997"} ! dacryocystitis

[Term]
id: MONDO:0001612
name: carotid stenosis
def: "A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents." [NCIT:P378]
synonym: "carotid artery stenosis" EXACT [NCIT:C95804]
synonym: "stenosis, carotid artery" EXACT [DOID:13001]
xref: DOID:13001 {source="MONDO:equivalentTo"}
xref: HP:0100546
xref: ICD9:433.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016893 {source="MONDO:equivalentTo", source="DOID:13001"}
xref: NCIT:C95804 {source="MONDO:equivalentTo", source="DOID:13001"}
xref: SCTID:195181000 {source="DOID:13001"}
xref: SCTID:64586002 {source="MONDO:equivalentTo", source="DOID:13001"}
xref: UMLS:C0007282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:785"}
is_a: MONDO:0005269 {source="DOID:13001", source="MESH:D016893", source="NCIT:C95804"} ! carotid artery disorder

[Term]
id: MONDO:0001613
name: vertebrobasilar insufficiency
def: "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated." [MESH:D014715]
subset: otar {source="MONDO:OTAR"}
synonym: "vertebro-basilar insufficiency" EXACT [DOID:13003]
synonym: "vertebrobasilar arterial insufficiency" EXACT [DOID:13003]
synonym: "vertebrobasilar artery syndrome" EXACT [DOID:13003, ICD9CM:435.3]
synonym: "vertebrobasilar insufficiency" EXACT [DOID:13003]
xref: DOID:13003 {source="MONDO:equivalentTo"}
xref: EFO:1001449 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G45.0 {source="DOID:13003"}
xref: ICD9:435.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13003"}
xref: MEDGEN:12075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014715 {source="MONDO:equivalentTo", source="DOID:13003"}
xref: SCTID:155404005 {source="DOID:13003"}
xref: SCTID:195196001 {source="DOID:13003"}
xref: SCTID:195199008 {source="MONDO:equivalentTo", source="DOID:13003"}
xref: SCTID:266314007 {source="DOID:13003"}
xref: SCTID:394517009 {source="DOID:13003"}
xref: SCTID:64009001 {source="MONDO:relatedTo", source="DOID:13003"}
xref: UMLS:C0042568 {source="MONDO:equivalentTo", source="MEDGEN:12075", source="MONDO:MEDGEN"}
is_a: MONDO:0020674 ! vascular insufficiency disorder
relationship: disease_has_feature MONDO:0005299 {source="MESH:D014715"} ! brain ischemia
relationship: excluded_subClassOf MONDO:0005264 {source="DOID:13003", source="https://orcid.org/0000-0001-5208-3432"} ! transient ischemic attack

[Term]
id: MONDO:0001614
name: intra-abdominal lymph node mast cell malignancy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant mast cell tumors involving intra-abdominal lymph nodes" EXACT [DOID:13005, ICD9CM:202.63]
synonym: "malignant mast cell tumours involving intra-abdominal lymph nodes" EXACT OMO:0003005 []
synonym: "mast cell malignancy of intra-abdominal lymph nodes" EXACT [DOID:13005]
xref: DOID:13005 {source="MONDO:equivalentTo"}
xref: ICD9:202.63 {source="DOID:13005"}
xref: MEDGEN:509471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188664008 {source="MONDO:equivalentTo", source="DOID:13005"}
xref: UMLS:C0153844 {source="MEDGEN:509471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001082 {source="DOID:13005"} ! lymph node cancer

[Term]
id: MONDO:0001615
name: epidemic keratoconjunctivitis
def: "Keratoconjunctivitis resulting from infection by adenoviruses." [NCIT:C34590]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EKC" EXACT ABBREVIATION [DOID:13014]
synonym: "shipyard eye" EXACT [DOID:13014]
xref: DOID:13014 {source="MONDO:equivalentTo"}
xref: ICD10CM:B30.0 {source="DOID:13014"}
xref: ICD9:077.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13014"}
xref: MEDGEN:4500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34590 {source="MONDO:equivalentTo", source="DOID:13014"}
xref: SCTID:60548004 {source="MONDO:equivalentTo", source="DOID:13014"}
xref: UMLS:C0014493 {source="MONDO:equivalentTo", source="MEDGEN:4500", source="MONDO:MEDGEN"}
is_a: MONDO:0004768 {source="DOID:13014", source="NCIT:C34590"} ! keratoconjunctivitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0000964 ! cornea
intersection_of: disease_has_inflammation_site UBERON:0001811 ! conjunctiva
intersection_of: MONDO:0100332 NCBITaxon:10508 ! disease has primary infectious agent Adenoviridae

[Term]
id: MONDO:0001616
name: lobomycosis
def: "A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." [MESH:D060368]
subset: otar {source="MONDO:OTAR"}
synonym: "cutaneous blastomycosis" RELATED [DOID:13026]
synonym: "cutaneous lobomycosis" EXACT [DOID:13026]
synonym: "infection by Loboa loboi" EXACT [DOID:13026]
xref: DOID:13026 {source="MONDO:equivalentTo"}
xref: EFO:1001805 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B48.0 {source="MONDO:equivalentTo", source="DOID:13026"}
xref: ICD9:116.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13026"}
xref: MEDGEN:452127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060368 {source="MONDO:equivalentTo", source="DOID:13026"}
xref: SCTID:240749000 {source="DOID:13026"}
xref: SCTID:47306003 {source="MONDO:equivalentTo", source="DOID:13026"}
xref: UMLS:C0152066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452127"}
is_a: MONDO:0002040 {source="DOID:13026", source="MESH:D060368"} ! dermatomycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:121752 ! Lacazia loboi

[Term]
id: MONDO:0001617
name: transient global amnesia
def: "A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event." [NCIT:P378]
synonym: "transient global amnesia" EXACT [MONDO:ambiguous]
synonym: "transient global amnesia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:13027 {source="MONDO:equivalentTo"}
xref: HP:0010534 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G45.4 {source="MONDO:equivalentTo", source="DOID:13027"}
xref: ICD9:437.7 {source="DOID:13027"}
xref: MEDGEN:83275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020236 {source="MONDO:equivalentTo", source="DOID:13027"}
xref: NCIT:C85198 {source="MONDO:equivalentTo", source="DOID:13027"}
xref: SCTID:195202003 {source="DOID:13027"}
xref: SCTID:230736007 {source="DOID:13027"}
xref: SCTID:366963000 {source="DOID:13027"}
xref: SCTID:367187006 {source="DOID:13027"}
xref: UMLS:C0338591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83275"}
is_a: MONDO:0001152 {source="DOID:13027"} ! amnestic disorder
relationship: has_characteristic HP:0025153 ! Transient
property_value: IAO:0000589 "transient global amnesia (disease)" xsd:string

[Term]
id: MONDO:0001618
name: balanoposthitis
subset: otar {source="MONDO:OTAR"}
xref: DOID:13031 {source="MONDO:equivalentTo"}
xref: ICD10CM:N47.6 {source="DOID:13031", source="MONDO:equivalentTo"}
xref: ICD9:607.1 {source="DOID:13031"}
xref: MEDGEN:507475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198020004 {source="DOID:13031"}
xref: SCTID:198024008 {source="DOID:13031"}
xref: SCTID:46090001 {source="DOID:13031", source="MONDO:equivalentTo"}
xref: UMLS:C0004691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507475"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001299 ! glans penis
intersection_of: disease_has_inflammation_site UBERON:0001332 ! prepuce of penis

[Term]
id: MONDO:0001619
name: obsolete relapsing fever
is_obsolete: true
replaced_by: MONDO:0019633

[Term]
id: MONDO:0001620
name: louse-borne relapsing fever
def: "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." [NCIT:C128426]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Relapsing fever, louse-borne" EXACT [DOID:13035, ICD9CM:087.0]
xref: DOID:13035 {source="MONDO:equivalentTo"}
xref: ICD10CM:A68.0 {source="MONDO:equivalentTo", source="DOID:13035"}
xref: ICD9:087.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13035"}
xref: MEDGEN:508863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128426 {source="MONDO:equivalentTo"}
xref: SCTID:14683004 {source="MONDO:equivalentTo", source="DOID:13035"}
xref: UMLS:C0152061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508863"}
is_a: MONDO:0019633 {source="DOID:13035", source="ICD10CM:A68.0"} ! relapsing fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0019633 ! relapsing fever
intersection_of: transmitted_by NCBITaxon:121225 ! Pediculus humanus
relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly
relationship: disease_has_feature HP:0001649 ! Tachycardia
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: disease_has_feature HP:0002789 ! Tachypnea

[Term]
id: MONDO:0001621
name: tick-borne relapsing fever
def: "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Relapsing fever, tick-borne" EXACT [DOID:13036, ICD9CM:087.1]
xref: DOID:13036 {source="MONDO:equivalentTo"}
xref: ICD10CM:A68.1 {source="MONDO:equivalentTo", source="DOID:13036"}
xref: ICD9:087.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13036"}
xref: MEDGEN:20515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34976 {source="MONDO:equivalentTo", source="DOID:13036"}
xref: SCTID:10301003 {source="MONDO:equivalentTo", source="DOID:13036"}
xref: SCTID:186821005 {source="DOID:13036"}
xref: UMLS:C0035022 {source="MEDGEN:20515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006956 {source="NCIT:C34976"} ! Rickettsiosis
is_a: MONDO:0019633 {source="DOID:13036", source="ICD10CM:A68.1", source="MONDO:Redundant"} ! relapsing fever
intersection_of: MONDO:0019633 ! relapsing fever
intersection_of: transmitted_by NCBITaxon:6944 ! Ixodes
relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly
relationship: disease_has_feature HP:0001649 ! Tachycardia
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: disease_has_feature HP:0002789 ! Tachypnea
relationship: transmitted_by NCBITaxon:140564 ! Ornithodoros parkeri

[Term]
id: MONDO:0001622
name: mechanical lagophthalmos
xref: DOID:13037 {source="MONDO:equivalentTo"}
xref: ICD10CM:H02.22 {source="MONDO:equivalentTo", source="DOID:13037"}
xref: ICD9:374.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13037"}
xref: MEDGEN:509845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193939008 {source="DOID:13037"}
xref: SCTID:21783006 {source="MONDO:equivalentTo", source="DOID:13037"}
xref: UMLS:C0155198 {source="MEDGEN:509845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001604 {source="DOID:13037"} ! lagophthalmos

[Term]
id: MONDO:0001623
name: cicatricial lagophthalmos
synonym: "cicatricial lagophthalmos" EXACT [MONDO:ambiguous]
synonym: "cicatricial lagophthalmos (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:13038 {source="MONDO:equivalentTo"}
xref: HP:0030004 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H02.21 {source="MONDO:equivalentTo", source="DOID:13038"}
xref: ICD9:374.23 {source="DOID:13038"}
xref: MEDGEN:509846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193940005 {source="DOID:13038"}
xref: SCTID:9042000 {source="DOID:13038"}
xref: UMLS:C0155199 {source="MEDGEN:509846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001604 {source="DOID:13038"} ! lagophthalmos
property_value: IAO:0000589 "cicatricial lagophthalmos (disease)" xsd:string

[Term]
id: MONDO:0001624
name: acute sphenoidal sinusitis
def: "Acute form of sphenoid sinusitis." [MONDO:patterns/acute]
synonym: "acute sphenoid sinusitis" EXACT [MONDO:design_pattern]
synonym: "sphenoid sinusitis, acute" EXACT [MONDO:patterns/acute]
synonym: "sphenoidal sinus -acute" EXACT [DOID:13046]
xref: DOID:13046 {source="MONDO:equivalentTo"}
xref: ICD10CM:J01.3 {source="MONDO:equivalentTo", source="DOID:13046"}
xref: ICD10CM:J01.30 {source="DOID:13046"}
xref: ICD9:461.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13046"}
xref: MEDGEN:510089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155501004 {source="DOID:13046"}
xref: SCTID:266378004 {source="DOID:13046"}
xref: SCTID:77919000 {source="MONDO:equivalentTo", source="DOID:13046"}
xref: UMLS:C0155807 {source="MEDGEN:510089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005964 {source="DOID:13046", source="MONDO:Redundant"} ! sphenoid sinusitis
intersection_of: MONDO:0005964 ! sphenoid sinusitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001625
name: corpus luteum cyst
def: "A ovarian cyst (disease) that involves the corpus luteum." [MONDO:patterns/location]
synonym: "corpus luteum ovarian cyst (disease)" EXACT [MONDO:patterns/location]
synonym: "ovarian cyst (disease) of corpus luteum" EXACT []
xref: DOID:13050 {source="MONDO:equivalentTo"}
xref: ICD10CM:N83.1 {source="MONDO:equivalentTo"}
xref: ICD9:620.1 {source="MONDO:relatedTo", source="DOID:13050", source="MONDO:i2s"}
xref: MEDGEN:1142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:386762009 {source="MONDO:equivalentTo"}
xref: UMLS:C0010093 {source="MEDGEN:1142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003282 {source="DOID:13050", source="MONDO:Redundant"} ! ovarian cyst
intersection_of: MONDO:0003282 ! ovarian cyst
intersection_of: disease_has_location UBERON:0002512 ! corpus luteum

[Term]
id: MONDO:0001626
name: traumatic glaucoma
synonym: "glaucoma associated with ocular trauma" EXACT [DOID:13060, ICD9CM:365.65]
xref: DOID:13060 {source="MONDO:equivalentTo"}
xref: ICD9:365.65 {source="DOID:13060", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:573251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:68241007 {source="DOID:13060", source="MONDO:equivalentTo"}
xref: UMLS:C0339594 {source="MEDGEN:573251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005041 {source="DOID:13060"} ! glaucoma

[Term]
id: MONDO:0001627
name: dementia
def: "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dementia" EXACT [NCIT:C4786]
synonym: "dementia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1307 {source="MONDO:equivalentTo"}
xref: HP:0000726 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0001-9859-8589"}
xref: ICD9:290.8 {source="DOID:1307"}
xref: ICD9:294.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:294.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:99229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003704 {source="MONDO:equivalentTo"}
xref: NCIT:C4786 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:52448006 {source="MONDO:equivalentTo"}
xref: UMLS:C0497327 {source="MEDGEN:99229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002039 {source="DOID:1307", source="MESH:D003704", source="MONDO:Redundant", source="NCIT:C4786"} ! cognitive disorder
intersection_of: MONDO:0002039 ! cognitive disorder
intersection_of: disease_has_major_feature HP:0000726 ! Dementia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6193" xsd:anyURI
property_value: IAO:0000589 "dementia (disease)" xsd:string

[Term]
id: MONDO:0001628
name: tinea unguium
def: "A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds." [MESH:D014009]
synonym: "cellulitis and abscess" RELATED [DOID:13074]
synonym: "cellulitis and abscess of buttock" EXACT [DOID:13074, ICD9CM:682.5]
synonym: "cellulitis and abscess of face" EXACT [DOID:13074]
synonym: "cellulitis and abscess of finger" EXACT [DOID:13074]
synonym: "cellulitis and abscess of finger and toe" EXACT [DOID:13074]
synonym: "cellulitis and abscess of gluteal region" EXACT [DOID:13074]
synonym: "cellulitis and abscess of trunk" EXACT [DOID:13074]
synonym: "cellulitis and abscess of upper arm and forearm" EXACT [DOID:13074]
synonym: "dermatophytic onychia" EXACT [DOID:13074]
synonym: "dermatophytic onychomycosis" EXACT [DOID:13074]
synonym: "dermatophytosis of nail" EXACT [DOID:13074, ICD9CM:110.1]
synonym: "nail dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "onychomycosis" EXACT [NCIT:C112214]
synonym: "onychomycosis due to dermatophyte" EXACT [DOID:13074]
synonym: "tinea unguium" EXACT [DOID:13074]
xref: DOID:13074 {source="MONDO:equivalentTo"}
xref: ICD10CM:B35.1 {source="MONDO:equivalentTo"}
xref: ICD9:681.9 {source="DOID:13074"}
xref: MEDGEN:11825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014009 {source="MONDO:equivalentTo"}
xref: NCIT:C112214 {source="MONDO:equivalentTo"}
xref: UMLS:C0040261 {source="MEDGEN:11825", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002884 {source="DOID:13074", source="MESH:D014009", source="MONDO:Redundant", source="MONDO:indirect"} ! nail disorder
is_a: MONDO:0004678 {source="DOID:13074", source="ICD10CM:B35.1", source="MONDO:Entailed", source="MONDO:Redundant"} ! dermatophytosis
intersection_of: MONDO:0004678 ! dermatophytosis
intersection_of: disease_has_location UBERON:0001705 ! nail
relationship: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
relationship: disease_has_infectious_agent NCBITaxon:4890 ! Ascomycota

[Term]
id: MONDO:0001629
name: Jaccoud syndrome
synonym: "Jaccoud syndrome" EXACT [DOID:13080]
synonym: "Jaccoud's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:13080 {source="MONDO:equivalentTo"}
xref: ICD10CM:M12.0 {source="DOID:13080"}
xref: ICD10CM:M12.00 {source="DOID:13080"}
xref: ICD9:714.4 {source="DOID:13080", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:123247007 {source="DOID:13080"}
xref: SCTID:84801008 {source="DOID:13080", source="MONDO:equivalentTo"}
xref: UMLS:C0152084 {source="MEDGEN:508877", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="DOID:13080"} ! autoimmune disease

[Term]
id: MONDO:0001630
name: branch retinal artery occlusion
def: "An occlusion of a branch of the retinal artery." [NCIT:P378]
synonym: "arterial retinal branch occlusion" EXACT [DOID:13094]
synonym: "retinal arterial branch occlusion" EXACT [DOID:13094, ICD9CM:362.32, NCIT:C34436]
xref: DOID:13094 {source="MONDO:equivalentTo"}
xref: ICD10CM:H34.23 {source="DOID:13094"}
xref: ICD9:362.32 {source="DOID:13094", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015356 {source="DOID:13094"}
xref: NCIT:C34436 {source="DOID:13094", source="MONDO:equivalentTo"}
xref: SCTID:50821009 {source="DOID:13094", source="MONDO:equivalentTo"}
xref: UMLS:C0006123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14217"}
is_a: MONDO:0006948 {source="DOID:13094", source="NCIT:C34436"} ! retinal artery occlusion
property_value: IAO:0000233 "https://github.com/obophenotype/human-phenotype-ontology/issues/4266" xsd:anyURI

[Term]
id: MONDO:0001631
name: vertebral artery insufficiency
def: "A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction." [NCIT:C35123]
synonym: "vertebral artery syndrome" EXACT [DOID:13095, ICD9CM:435.1, NCIT:C35123]
xref: DOID:13095 {source="MONDO:equivalentTo"}
xref: ICD9:435.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:22638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014715 {source="DOID:13095", source="MONDO:directSiblingOf"}
xref: NCIT:C35123 {source="MONDO:equivalentTo"}
xref: SCTID:34781003 {source="MONDO:equivalentTo"}
xref: UMLS:C0042560 {source="MEDGEN:22638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:13095", source="MONDO:Redundant", source="NCIT:C35123"} ! syndromic disease
is_a: MONDO:0005264 {source="DOID:13095"} ! transient ischemic attack
intersection_of: MONDO:0020674 ! vascular insufficiency disorder
intersection_of: disease_has_location UBERON:0001535 ! vertebral artery

[Term]
id: MONDO:0001632
name: intracranial arteriosclerosis
def: "Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis." [MESH:D002537]
xref: DOID:13097 {source="MONDO:equivalentTo"}
xref: MEDGEN:3319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002537 {source="DOID:13097", source="MONDO:equivalentTo"}
xref: UMLS:C0007771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3319"}
is_a: MONDO:0002277 {source="DOID:13097", source="MESH:D002537"} ! arteriosclerosis disorder

[Term]
id: MONDO:0001633
name: central retinal artery occlusion
def: "Blockage of the central retinal artery." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:648684"}
subset: orphanet_rare {source="Orphanet:648684"}
subset: rare
synonym: "central retinal arterial occlusion" EXACT [NCIT:C34456]
xref: DOID:13098 {source="MONDO:equivalentTo"}
xref: ICD10CM:H34.1 {source="MONDO:equivalentTo", source="DOID:13098"}
xref: ICD9:362.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13098"}
xref: MEDGEN:40177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015356 {source="DOID:13098"}
xref: NCIT:C34456 {source="MONDO:equivalentTo", source="DOID:13098"}
xref: Orphanet:648684 {source="MONDO:equivalentTo"}
xref: SCTID:38742007 {source="MONDO:equivalentTo", source="DOID:13098"}
xref: UMLS:C0007688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40177"}
is_a: MONDO:0006948 {source="DOID:13098", source="NCIT:C34456"} ! retinal artery occlusion
intersection_of: MONDO:0020672 ! vascular occlusion disorder
intersection_of: disease_has_location UBERON:0001620 ! central retinal artery

[Term]
id: MONDO:0001634
name: bladder leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6178]
synonym: "bladder leiomyoma" EXACT [NCIT:C6178]
synonym: "leiomyoma of bladder" EXACT [NCIT:C6178]
synonym: "leiomyoma of the bladder" EXACT [NCIT:C6178]
synonym: "leiomyoma of the urinary bladder" EXACT [DOID:13109, NCIT:C6178]
synonym: "leiomyoma of urinary bladder" EXACT [NCIT:C6178]
synonym: "urinary bladder leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6178]
xref: DOID:13109 {source="MONDO:equivalentTo"}
xref: MEDGEN:272371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6178 {source="DOID:13109", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332560 {source="MEDGEN:272371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000384 {source="DOID:13109", source="MONDO:Redundant", source="NCIT:C6178"} ! bladder benign neoplasm
is_a: MONDO:0001572 {source="DOID:13109", source="MONDO:Redundant", source="NCIT:C6178"} ! leiomyoma
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0001635
name: bladder squamous papilloma
def: "A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium." [NCIT:C39834]
synonym: "bladder squamous papilloma" EXACT [NCIT:C39834]
xref: DOID:13110 {source="MONDO:equivalentTo"}
xref: MEDGEN:267742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39834 {source="MONDO:equivalentTo", source="DOID:13110", source="MONDO:exact-label-match"}
xref: UMLS:C1511199 {source="MEDGEN:267742", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000384 {source="DOID:13110", source="NCIT:C39834"} ! bladder benign neoplasm
is_a: MONDO:0001825 {source="NCIT:C39834"} ! squamous papilloma

[Term]
id: MONDO:0001636
name: mechanical entropion
xref: DOID:13112 {source="MONDO:equivalentTo"}
xref: ICD9:374.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13112"}
xref: MEDGEN:509838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:38683003 {source="MONDO:equivalentTo", source="DOID:13112"}
xref: UMLS:C0155189 {source="MEDGEN:509838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001519 {source="DOID:13112"} ! entropion

[Term]
id: MONDO:0001637
name: cicatricial entropion
xref: DOID:13113 {source="MONDO:equivalentTo"}
xref: ICD9:374.04 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13113"}
xref: MEDGEN:509840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:67383002 {source="MONDO:equivalentTo", source="DOID:13113"}
xref: UMLS:C0155191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509840"}
is_a: MONDO:0001519 {source="DOID:13113"} ! entropion

[Term]
id: MONDO:0001638
name: protein-deficiency anemia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anaemia due to protein deficiency" EXACT OMO:0003005 []
synonym: "anemia due to protein deficiency" EXACT [DOID:13120]
xref: DOID:13120 {source="MONDO:equivalentTo"}
xref: ICD10CM:D53.0 {source="MONDO:equivalentTo", source="DOID:13120"}
xref: ICD9:281.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13120"}
xref: MEDGEN:509568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:191156009 {source="MONDO:equivalentTo", source="DOID:13120"}
xref: SCTID:191159002 {source="DOID:13120"}
xref: SCTID:85746008 {source="DOID:13120"}
xref: UMLS:C0154290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509568"}
is_a: MONDO:0001639 {source="DOID:13120"} ! deficiency anemia

[Term]
id: MONDO:0001639
name: deficiency anemia
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency anemias" EXACT [DOID:13121]
synonym: "unspecified deficiency anaemia" EXACT OMO:0003005 []
synonym: "unspecified deficiency anemia" EXACT [DOID:13121, ICD9CM:281.9]
xref: DOID:13121 {source="MONDO:equivalentTo"}
xref: ICD9:281.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:281.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13121"}
xref: MEDGEN:508256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:191125001 {source="DOID:13121"}
xref: SCTID:191168000 {source="DOID:13121"}
xref: SCTID:267513007 {source="MONDO:equivalentTo", source="DOID:13121"}
xref: UMLS:C0041782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508256"}
is_a: MONDO:0002280 {source="DOID:13121"} ! anemia

[Term]
id: MONDO:0001640
name: gonococcal spondylitis
def: "An spondylitis caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:13127 {source="MONDO:equivalentTo"}
xref: ICD9:098.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13127"}
xref: MEDGEN:509212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186929006 {source="DOID:13127"}
xref: SCTID:53664003 {source="MONDO:equivalentTo", source="DOID:13127"}
xref: UMLS:C0153219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509212"}
is_a: MONDO:0003937 {source="DOID:13127", source="MONDO:Redundant"} ! spondylitis
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
intersection_of: MONDO:0003937 ! spondylitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae

[Term]
id: MONDO:0001641
name: severe pre-eclampsia
def: "Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antepartum severe pre-eclampsia" EXACT [DOID:13129]
synonym: "postpartum severe pre-eclampsia" EXACT [DOID:13129]
synonym: "Preeclampsia with severe features" EXACT [NCIT:C112843]
synonym: "severe pre-eclampsia, with delivery" EXACT [DOID:13129]
synonym: "severe preeclampsia" EXACT [DOID:13129]
xref: DOID:13129 {source="MONDO:equivalentTo"}
xref: ICD9:642.50 {source="DOID:13129"}
xref: MEDGEN:574734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C112843 {source="MONDO:equivalentTo"}
xref: UMLS:C0341950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574734"}
is_a: MONDO:0005081 {source="DOID:13129", source="NCIT:C112843"} ! preeclampsia

[Term]
id: MONDO:0001642
name: hordeolum externum
def: "A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis." [https://www.merckmanuals.com/professional/eye-disorders/eyelid-and-lacrimal-disorders/chalazion-and-hordeolum-stye]
synonym: "external stye" EXACT [DOID:13134]
xref: DOID:13134 {source="MONDO:equivalentTo"}
xref: ICD10CM:H00.01 {source="DOID:13134"}
xref: ICD10CM:H00.03 {source="DOID:13134"}
xref: ICD9:373.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13134"}
xref: MEDGEN:5613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1489008 {source="MONDO:equivalentTo", source="DOID:13134"}
xref: SCTID:193912000 {source="DOID:13134"}
xref: SCTID:193913005 {source="DOID:13134"}
xref: SCTID:61523007 {source="DOID:13134"}
xref: UMLS:C0019919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5613"}
is_a: MONDO:0005800 {source="https://orcid.org/0000-0002-6601-2165"} ! hordeolum
relationship: excluded_subClassOf MONDO:0004785 {source="DOID:13134", source="https://orcid.org/0000-0001-5208-3432"} ! blepharitis

[Term]
id: MONDO:0001643
name: exophthalmic ophthalmoplegia
xref: DOID:13135 {source="MONDO:equivalentTo"}
xref: ICD9:376.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13135"}
xref: MEDGEN:508900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:69763009 {source="MONDO:equivalentTo", source="DOID:13135"}
xref: UMLS:C0152135 {source="MEDGEN:508900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001509 {source="DOID:13135"} ! endocrine exophthalmos
is_a: MONDO:0003425 {source="DOID:13135"} ! ophthalmoplegia

[Term]
id: MONDO:0001644
name: acute proliferative glomerulonephritis
def: "Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus." [NCIT:C35443]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acute glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [DOID:13138, ICD9CM:580.0]
synonym: "post-streptococcal glomerulonephritis" EXACT [NCIT:C35443]
synonym: "proliferative glomerulonephritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:13138 {source="MONDO:equivalentTo"}
xref: ICD9:580.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13138"}
xref: MEDGEN:574582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35443 {source="MONDO:equivalentTo"}
xref: SCTID:197579006 {source="MONDO:equivalentTo", source="DOID:13138"}
xref: UMLS:C0341692 {source="MEDGEN:574582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="DOID:13138", source="MONDO:0001644/inferred", source="MONDO:Redundant", source="NCIT:C35443"} ! glomerulonephritis
is_a: MONDO:0003134 {source="MONDO:Redundant"} ! proliferative glomerulonephritis
intersection_of: MONDO:0003134 ! proliferative glomerulonephritis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001645
name: crescentic glomerulonephritis
def: "A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "crescentic glomerulonephritis" EXACT [MONDO:ambiguous]
synonym: "crescentic glomerulonephritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:13139 {source="MONDO:equivalentTo"}
xref: HP:0008653 {source="MONDO:otherHierarchy"}
xref: ICD9:580.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200714 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200723 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35444 {source="DOID:13139", source="MONDO:equivalentTo"}
xref: SCTID:236398000 {source="DOID:13139", source="MONDO:equivalentTo"}
xref: SCTID:45406000 {source="DOID:13139"}
xref: UMLS:C0403416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96040"}
is_a: MONDO:0001644 {source="DOID:13139"} ! acute proliferative glomerulonephritis
is_a: MONDO:0002462 {source="DOID:13139/inferred", source="MONDO:Redundant", source="NCIT:C35444"} ! glomerulonephritis
property_value: IAO:0000589 "crescentic glomerulonephritis (disease)" xsd:string

[Term]
id: MONDO:0001646
name: benign secondary hypertension
def: "Mild to moderate high blood pressure that is caused by an underlying medical condition." [NCIT:P378]
xref: DOID:13143 {source="MONDO:equivalentTo"}
xref: ICD9:405.1 {source="DOID:13143"}
xref: ICD9:405.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3658 {source="MONDO:otherHierarchy", source="DOID:13143"}
xref: SCTID:194785008 {source="MONDO:equivalentTo", source="DOID:13143"}
xref: SCTID:194787000 {source="DOID:13143"}
xref: SCTID:44111003 {source="DOID:13143"}
xref: UMLS:C0155620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57610"}
is_a: MONDO:0001200 {source="DOID:13143"} ! secondary hypertension

[Term]
id: MONDO:0001647
name: benign renovascular hypertension
xref: DOID:13145 {source="MONDO:equivalentTo"}
xref: ICD9:405.11 {source="DOID:13145"}
xref: MEDGEN:1843496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0155621 {source="MEDGEN:1843496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001105 {source="DOID:13145"} ! renal hypertension
is_a: MONDO:0001646 {source="DOID:13145"} ! benign secondary hypertension

[Term]
id: MONDO:0001648
name: esophageal candidiasis
def: "Esophagitis resulting from Candida." [NCIT:P378]
synonym: "Candida esophagitis" EXACT [DOID:13146, NCIT:C27027]
synonym: "candidal esophagitis" EXACT [DOID:13146, ICD9CM:112.84]
synonym: "candidiasis of the esophagus" EXACT [NCIT:C27027]
synonym: "candidiasis of the oesophagus" EXACT OMO:0003005 []
synonym: "esophageal moniliasis" EXACT [DOID:13146]
synonym: "esophageal thrush" EXACT [DOID:13146]
xref: DOID:13146 {source="MONDO:equivalentTo"}
xref: ICD10CM:B37.81 {source="MONDO:equivalentTo", source="DOID:13146"}
xref: ICD9:112.84 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13146"}
xref: MEDGEN:66784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27027 {source="MONDO:equivalentTo", source="DOID:13146"}
xref: SCTID:187023002 {source="DOID:13146"}
xref: SCTID:20639004 {source="MONDO:equivalentTo", source="DOID:13146"}
xref: UMLS:C0239295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66784"}
is_a: MONDO:0001649 {source="NCIT:C27027"} ! fungal esophagitis
is_a: MONDO:0002026 {source="DOID:13146", source="ICD10CM:B37.81", source="ICD10CM:B37.81/inferred", source="NCIT:C27027"} ! candidiasis

[Term]
id: MONDO:0001649
name: fungal esophagitis
def: "Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing." [NCIT:C27107]
synonym: "fungal esophagitis" EXACT [NCIT:C27107]
xref: DOID:13147 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27107 {source="MONDO:equivalentTo", source="DOID:13147"}
xref: SCTID:235602008 {source="MONDO:equivalentTo", source="DOID:13147"}
xref: UMLS:C0341109 {source="MEDGEN:90960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001409 {source="DOID:13147", source="MONDO:Redundant", source="NCIT:C27107"} ! esophagitis
is_a: MONDO:0002041 {source="NCIT:C27107"} ! fungal infectious disease
intersection_of: MONDO:0001409 ! esophagitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: transmitted_by NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0001650
name: acute cystitis
def: "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain." [NCIT:P378]
synonym: "acute cystitis" EXACT [MONDO:ambiguous]
synonym: "acute cystitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cystitis, acute" EXACT [MONDO:patterns/acute]
synonym: "urinary tract infection" RELATED EXCLUDE [DOID:13148]
xref: DOID:13148 {source="MONDO:equivalentTo"}
xref: ICD10CM:N30.0 {source="MONDO:equivalentTo", source="DOID:13148"}
xref: ICD9:595.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13148"}
xref: MEDGEN:57429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26934 {source="MONDO:equivalentTo", source="DOID:13148"}
xref: SCTID:155883005 {source="DOID:13148"}
xref: SCTID:197833009 {source="DOID:13148"}
xref: SCTID:266628008 {source="DOID:13148"}
xref: SCTID:68226007 {source="MONDO:equivalentTo", source="DOID:13148"}
xref: UMLS:C0149523 {source="MEDGEN:57429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005247 {source="https://github.com/monarch-initiative/mondo/issues/841"} ! bacterial urinary tract infection
intersection_of: MONDO:0006032 ! cystitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: excluded_subClassOf MONDO:0006032 {source="DOID:13148", source="MONDO:Redundant", source="NCIT:C26934/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! cystitis
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000589 "acute cystitis (disease)" xsd:string

[Term]
id: MONDO:0001651
name: scrotum squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement." [NCIT:P378]
synonym: "scrotal squamous cell carcinoma" EXACT [DOID:13159, NCIT:C4643]
synonym: "scrotum squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of scrotum" RELATED [DOID:13159]
synonym: "squamous cell carcinoma of the scrotum" EXACT [NCIT:C4643]
xref: DOID:13159 {source="MONDO:equivalentTo"}
xref: MEDGEN:138101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4643 {source="MONDO:equivalentTo", source="DOID:13159"}
xref: SCTID:276860003 {source="MONDO:equivalentTo", source="DOID:13159"}
xref: UMLS:C0349551 {source="MEDGEN:138101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002650 {source="DOID:13159", source="MONDO:Redundant", source="NCIT:C4643"} ! scrotal carcinoma
is_a: MONDO:0005096 {source="DOID:13159", source="MONDO:Redundant", source="NCIT:C4643"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0001652
name: scrotum melanoma
def: "A melanoma (disease) that involves the scrotum." [MONDO:patterns/location]
synonym: "melanoma (disease) of scrotum" EXACT []
synonym: "melanoma of scrotum" EXACT [DOID:13160, NCIT:C7361]
synonym: "melanoma of the scrotum" EXACT [NCIT:C7361]
synonym: "scrotal melanoma" EXACT [NCIT:C7361]
synonym: "scrotum melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:13160 {source="MONDO:equivalentTo"}
xref: MEDGEN:233100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7361 {source="DOID:13160", source="MONDO:equivalentTo"}
xref: UMLS:C1331544 {source="MEDGEN:233100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003319 {source="DOID:13160", source="MONDO:Redundant", source="NCIT:C7361/inferred"} ! scrotum neoplasm
is_a: MONDO:0005105 {source="DOID:13160", source="MONDO:Redundant", source="NCIT:C7361/inferred"} ! melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0001653
name: prepuce cancer
def: "A malignant neoplasm involving the prepuce." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of prepuce" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of foreskin" EXACT [DOID:13168]
synonym: "malignant neoplasm of prepuce" EXACT [MONDO:patterns/cancer]
synonym: "malignant prepuce neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of foreskin" EXACT [DOID:13168]
synonym: "malignant tumour of foreskin" EXACT OMO:0003005 []
synonym: "prepuce cancer" EXACT [MONDO:patterns/location]
xref: DOID:13168 {source="MONDO:equivalentTo"}
xref: ICD10CM:C60.0 {source="DOID:13168"}
xref: ICD9:187.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13168"}
xref: MEDGEN:509336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363450006 {source="MONDO:equivalentTo", source="DOID:13168"}
xref: SCTID:93805009 {source="DOID:13168"}
xref: UMLS:C0153598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509336"}
is_a: MONDO:0002898 {source="DOID:13168"} ! skin cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0011374 ! prepuce

[Term]
id: MONDO:0001654
name: spermatic cord cancer
def: "A malignant neoplasm involving the spermatic cord." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of spermatic cord" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of spermatic cord" EXACT [MONDO:patterns/cancer, NCIT:C3559]
synonym: "malignant neoplasm of the spermatic cord" EXACT [NCIT:C3559]
synonym: "malignant spermatic cord neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant spermatic cord tumor" EXACT [NCIT:C3559]
synonym: "malignant spermatic cord tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of spermatic cord" EXACT [NCIT:C3559]
synonym: "malignant tumor of the spermatic cord" EXACT [DOID:13169, NCIT:C3559]
synonym: "malignant tumour of spermatic cord" EXACT OMO:0003005 []
synonym: "malignant tumour of the spermatic cord" EXACT OMO:0003005 []
synonym: "spermatic cord Ca" EXACT [DOID:13169]
synonym: "spermatic cord cancer" EXACT [MONDO:patterns/location]
xref: DOID:13169 {source="MONDO:equivalentTo"}
xref: ICD10CM:C63.1 {source="DOID:13169"}
xref: ICD9:187.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13169"}
xref: MEDGEN:102278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3559 {source="MONDO:equivalentTo", source="DOID:13169"}
xref: SCTID:154537000 {source="DOID:13169"}
xref: SCTID:269606007 {source="DOID:13169"}
xref: SCTID:363453008 {source="MONDO:equivalentTo", source="DOID:13169"}
xref: SCTID:94065000 {source="DOID:13169"}
xref: UMLS:C0153603 {source="MEDGEN:102278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005836 {source="DOID:13169", source="MONDO:Redundant", source="NCIT:C3559"} ! male reproductive organ cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0005352 ! spermatic cord

[Term]
id: MONDO:0001655
name: dissociated nystagmus
synonym: "dissociated nystagmus" EXACT [DOID:13174, ICD9CM:379.55]
xref: DOID:13174 {source="MONDO:equivalentTo"}
xref: ICD10CM:H55.04 {source="DOID:13174", source="MONDO:equivalentTo"}
xref: ICD9:379.55 {source="DOID:13174", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009759 {source="DOID:13174"}
xref: SCTID:9520006 {source="DOID:13174", source="MONDO:equivalentTo"}
xref: UMLS:C0155380 {source="MEDGEN:56362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004843 {source="DOID:13174"} ! pathologic nystagmus

[Term]
id: MONDO:0001656
name: megaesophagus
def: "An abnormal dilation of the esophagus not due to obstruction." [NCIT:P378]
xref: DOID:13186 {source="MONDO:equivalentTo"}
xref: MEDGEN:6286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004931 {source="DOID:13186"}
xref: NCIT:C34811 {source="MONDO:equivalentTo", source="DOID:13186"}
xref: SCTID:70667005 {source="MONDO:equivalentTo", source="DOID:13186"}
xref: UMLS:C0025164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6286"}
is_a: MONDO:0003749 {source="DOID:13186", source="NCIT:C34811/inferred"} ! esophageal disorder

[Term]
id: MONDO:0001657
name: brain cancer
def: "A primary or metastatic malignant neoplasm affecting the brain." [NCIT:C3568]
subset: otar {source="MONDO:OTAR"}
synonym: "adult brain tumor" NARROW [DOID:1319]
synonym: "adult brain tumour" NARROW OMO:0003005 []
synonym: "adult malignant brain neoplasm" NARROW [DOID:1319]
synonym: "brain cancer" EXACT [MONDO:patterns/location, NCIT:C3568]
synonym: "brain neoplasm" BROAD [DOID:1319]
synonym: "brain neoplasm, adult" RELATED [DOID:1319, NCIT:C7710]
synonym: "brain neoplasms, malignant" EXACT [NCIT:C3568]
synonym: "brain tumor, adult" RELATED [GARD:0009307]
synonym: "BT - brain tumor" RELATED [DOID:1319]
synonym: "BT - brain tumour" RELATED OMO:0003005 []
synonym: "cancer of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568]
synonym: "cancer of the brain" EXACT [NCIT:C3568]
synonym: "malignant brain neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3568]
synonym: "malignant brain tumor" EXACT [DOID:1319, NCIT:C3568]
synonym: "malignant brain tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568]
synonym: "malignant neoplasm of the brain" EXACT [NCIT:C3568]
synonym: "malignant primary brain neoplasm" NARROW [DOID:1319, NCIT:C4954]
synonym: "malignant primary brain tumor" NARROW [DOID:1319]
synonym: "malignant primary brain tumour" NARROW OMO:0003005 []
synonym: "malignant tumor of adult brain" NARROW [DOID:1319, NCIT:C5115]
synonym: "malignant tumor of brain" EXACT [DOID:1319, NCIT:C3568]
synonym: "malignant tumor of the brain" EXACT [NCIT:C3568]
synonym: "malignant tumour of adult brain" NARROW OMO:0003005 []
synonym: "malignant tumour of brain" EXACT OMO:0003005 []
synonym: "malignant tumour of the brain" EXACT OMO:0003005 []
synonym: "neoplasm of brain" RELATED EXCLUDE [DOID:1319]
synonym: "neoplasm of unspecified nature of brain" RELATED [DOID:1319, ICD9CM:239.6]
synonym: "primary brain neoplasm" RELATED [DOID:1319, NCIT:C4952]
synonym: "primary brain tumor" RELATED [DOID:1319]
synonym: "primary brain tumour" RELATED OMO:0003005 []
synonym: "primary malignant neoplasm of brain" EXACT [DOID:1319]
synonym: "tumor of the brain" BROAD [DOID:1319, NCIT:C2907]
synonym: "tumour of the brain" BROAD OMO:0003005 []
xref: CSP:2006-2736 {source="DOID:1319"}
xref: DOID:1319 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71 {source="DOID:1319"}
xref: ICD10CM:C71.9 {source="DOID:1319"}
xref: ICD9:191 {source="DOID:1319"}
xref: ICD9:191.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:191.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1319"}
xref: ICD9:239.6 {source="DOID:1319"}
xref: MEDGEN:57796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001932 {source="MONDO:equivalentTo", source="DOID:1319"}
xref: NCIT:C2907 {source="DOID:1319"}
xref: NCIT:C3568 {source="MONDO:equivalentTo", source="DOID:1319"}
xref: NCIT:C4952 {source="DOID:1319", source="MONDO:directSiblingOf"}
xref: NCIT:C4954 {source="DOID:1319"}
xref: NCIT:C5115 {source="DOID:1319"}
xref: NCIT:C7710 {source="DOID:1319"}
xref: SCTID:126952004 {source="DOID:1319"}
xref: SCTID:154550004 {source="DOID:1319"}
xref: SCTID:188279009 {source="DOID:1319"}
xref: SCTID:188305001 {source="DOID:1319"}
xref: SCTID:189537005 {source="DOID:1319"}
xref: SCTID:254935002 {source="DOID:1319"}
xref: SCTID:269610005 {source="DOID:1319"}
xref: SCTID:275464006 {source="DOID:1319"}
xref: SCTID:363356001 {source="DOID:1319"}
xref: SCTID:428061005 {source="MONDO:equivalentTo", source="DOID:1319"}
xref: SCTID:93727008 {source="DOID:1319"}
xref: UMLS:C0153633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57796"}
is_a: MONDO:0002714 {source="DOID:1319", source="MESH:D001932", source="MONDO:Redundant", source="NCIT:C3568/inferred"} ! central nervous system cancer
is_a: MONDO:0005560 {source="DOID:1319", source="MESH:D001932", source="MONDO:Redundant"} ! brain disorder
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C3568"} ! brain neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0001658
name: nontoxic goiter
def: "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "euthyroid goiter" EXACT [NCIT:C35271]
synonym: "euthyroid goitre" EXACT OMO:0003005 []
synonym: "goiter, non-toxic" EXACT [DOID:13195]
synonym: "goiter, non-toxic NOS" RELATED EXCLUDE [DOID:13195]
synonym: "Nodule-thyroid, non tox" EXACT [DOID:13195]
synonym: "non-toxic goiter" EXACT [DOID:13195, NCIT:C35271]
synonym: "non-toxic goitre" EXACT OMO:0003005 []
synonym: "non-toxic simple goiter" EXACT [DOID:13195]
synonym: "non-toxic simple goitre" EXACT OMO:0003005 []
synonym: "nontoxic goiter" EXACT [DOID:13195, NCIT:C35271]
xref: DOID:13195 {source="MONDO:equivalentTo"}
xref: ICD10CM:E04.0 {source="DOID:13195"}
xref: ICD10CM:E04.9 {source="DOID:13195"}
xref: MEDGEN:113172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35271 {source="MONDO:equivalentTo", source="DOID:13195"}
xref: SCTID:154650009 {source="DOID:13195"}
xref: SCTID:154654000 {source="DOID:13195"}
xref: SCTID:267369002 {source="MONDO:relatedTo", source="DOID:13195"}
xref: SCTID:267463000 {source="DOID:13195"}
xref: SCTID:286908001 {source="DOID:13195"}
xref: SCTID:60968001 {source="DOID:13195"}
xref: UMLS:C0221777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113172"}
is_a: MONDO:0005397 {source="DOID:13195", source="NCIT:C35271"} ! goiter

[Term]
id: MONDO:0001659
name: obsolete MONDO:0001659
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021259

[Term]
id: MONDO:0001660
name: proliferative diabetic retinopathy
def: "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "PDR" RELATED EXCLUDE [DOID:13207]
xref: DOID:13207 {source="MONDO:equivalentTo"}
xref: EFO:0009322 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:362.02 {source="DOID:13207", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84457 {source="DOID:13207", source="MONDO:equivalentTo"}
xref: SCTID:154679002 {source="DOID:13207"}
xref: SCTID:59276001 {source="DOID:13207", source="MONDO:equivalentTo"}
xref: UMLS:C0154830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56347"}
is_a: MONDO:0005266 {source="DOID:13207", source="NCIT:C84457"} ! diabetic retinopathy

[Term]
id: MONDO:0001661
name: background diabetic retinopathy
def: "An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels." [NCIT:P378]
synonym: "non proliferative diabetic retinopathy" EXACT [DOID:13208]
synonym: "non-proliferative diabetic retinopathy" EXACT [DOID:13208, NCIT:C35668]
xref: DOID:13208 {source="MONDO:equivalentTo"}
xref: ICD9:362.01 {source="DOID:13208", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:362.03 {source="DOID:13208", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34408 {source="DOID:13208", source="MONDO:otherHierarchy"}
xref: NCIT:C35668 {source="DOID:13208", source="MONDO:equivalentTo"}
xref: SCTID:154680004 {source="DOID:13208"}
xref: SCTID:31411005 {source="DOID:13208"}
xref: SCTID:390718008 {source="DOID:13208"}
xref: SCTID:390834004 {source="DOID:13208", source="MONDO:equivalentTo"}
xref: UMLS:C0004606 {source="MONDO:equivalentTo", source="MEDGEN:2531", source="MONDO:MEDGEN"}
is_a: MONDO:0005266 {source="DOID:13208", source="NCIT:C35668"} ! diabetic retinopathy

[Term]
id: MONDO:0001662
name: obsolete right bundle branch block
synonym: "obsolete right bundle branch block (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "right bundle branch block" EXACT [MONDO:ambiguous]
synonym: "right bundle branch block with left posterior fascicular block" EXACT [DOID:13209]
xref: DOID:13209 {source="MONDO:obsoleteEquivalent"}
xref: HP:0011712 {source="MONDO:otherHierarchy"}
xref: ICD9:426.4 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: ICD9:426.51 {source="DOID:13209"}
xref: SCTID:46319007 {source="DOID:13209"}
xref: SCTID:59118001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000423
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2536" xsd:anyURI
property_value: IAO:0000589 "obsolete right bundle branch block (disease)" xsd:string
is_obsolete: true
consider: HP:0011712

[Term]
id: MONDO:0001663
name: hole retinal cyst
synonym: "macular cyst or hole" EXACT [DOID:13214]
synonym: "macular cyst, hole, or pseudohole of retina" EXACT [DOID:13214, ICD9CM:362.54]
synonym: "macular pseudohole retinal cyst" EXACT [DOID:13214]
xref: DOID:13214 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.34 {source="DOID:13214"}
xref: ICD9:362.54 {source="DOID:13214"}
xref: MEDGEN:687835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1079004 {source="MONDO:equivalentTo", source="DOID:13214"}
xref: SCTID:193388002 {source="DOID:13214"}
xref: SCTID:267612009 {source="DOID:13214"}
xref: UMLS:C1261331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:687835"}
is_a: MONDO:0002175 {source="DOID:13214"} ! degeneration of macula and posterior pole

[Term]
id: MONDO:0001664
name: submucous uterine fibroid
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "submucous leiomyoma of uterus" EXACT [DOID:13222, ICD9CM:218.0]
xref: DOID:13222 {source="MONDO:equivalentTo"}
xref: ICD10CM:D25.0 {source="MONDO:equivalentTo", source="DOID:13222"}
xref: ICD9:218.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13222"}
xref: MEDGEN:509501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95279007 {source="MONDO:equivalentTo", source="DOID:13222"}
xref: UMLS:C0153993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509501"}
is_a: MONDO:0007886 {source="DOID:13222"} ! uterine corpus leiomyoma

[Term]
id: MONDO:0001665
name: oculoglandular tularemia
def: "A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear." [DOID:13226, http://www.cdc.gov/tularemia/signssymptoms/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:13226 {source="MONDO:equivalentTo"}
xref: ICD10CM:A21.1 {source="MONDO:equivalentTo", source="DOID:13226"}
xref: ICD9:021.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13226"}
xref: MEDGEN:509089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:73363000 {source="MONDO:equivalentTo", source="DOID:13226"}
xref: UMLS:C0152944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509089"}
is_a: MONDO:0018077 {source="DOID:13226", source="ICD10CM:A21.1"} ! tularemia

[Term]
id: MONDO:0001666
name: retinal dystrophies primarily involving Bruch's membrane
def: "A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation." [PMID:19747980]
comment: Editor note: This class originated in DO from ICD9, it is not in ICD10 and does not appear to be a general grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Bruch's membrane inherited retinal dystrophy" EXACT [MONDO:patterns/location]
synonym: "inherited retinal dystrophy of Bruch's membrane" EXACT []
synonym: "retinal dystrophies primarily involving Bruch membrane" EXACT [DOID:13227]
xref: DOID:13227 {source="MONDO:equivalentTo"}
xref: ICD9:362.77 {source="DOID:13227", source="MONDO:equivalentTo"}
xref: MEDGEN:1720702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0154866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720702"}
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: disease_has_location UBERON:0003957 ! Bruch's membrane

[Term]
id: MONDO:0001667
name: streptobacillus infectious disease
synonym: "infection caused by streptobacillus" EXACT []
synonym: "streptobacillus infection" RELATED []
xref: MEDGEN:923114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:721738002 {source="MONDO:equivalentTo"}
xref: UMLS:C0947939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:923114"}
is_a: MONDO:0021678 {source="https://orcid.org/0000-0002-6601-2165"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:34104 ! Streptobacillus

[Term]
id: MONDO:0001668
name: internal pathological resorption of tooth
synonym: "internal granuloma of pulp" RELATED []
synonym: "internal pathologic resorption" EXACT []
synonym: "internal pathological resorption" RELATED [DOID:13239]
synonym: "internal resorption of crown of tooth" RELATED []
synonym: "internal resorption of tooth" EXACT []
synonym: "pathological tooth resorption - internal" RELATED []
synonym: "pink spot lesion of tooth" RELATED []
synonym: "pink tooth of mummery" RELATED []
xref: DOID:13239 {source="MONDO:equivalentTo"}
xref: ICD9:521.41 {source="DOID:13239"}
xref: MEDGEN:540237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:52994003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540237"}
is_a: MONDO:0001670 {source="DOID:13239"} ! tooth resorption

[Term]
id: MONDO:0001669
name: obsolete lung cancer
is_obsolete: true
replaced_by: MONDO:0008903

[Term]
id: MONDO:0001670
name: tooth resorption
def: "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" [MESH:D014091]
xref: DOID:13240 {source="MONDO:equivalentTo"}
xref: ICD10CM:K03.3 {source="DOID:13240"}
xref: ICD9:521.4 {source="DOID:13240"}
xref: MEDGEN:21587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014091 {source="DOID:13240", source="MONDO:equivalentTo"}
xref: SCTID:196316003 {source="DOID:13240"}
xref: SCTID:70931000 {source="DOID:13240", source="MONDO:equivalentTo"}
xref: UMLS:C0040451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21587"}
is_a: MONDO:0002220 {source="DOID:13240"} ! tooth hard tissue disease

[Term]
id: MONDO:0001671
name: mucocele of appendix
def: "Accumulation of mucus within the appendix." [NCIT:P378]
synonym: "appendiceal mucocele" EXACT [NCIT:C3241]
synonym: "Appendicele mucocele" EXACT [DOID:13248, NCIT:C3241]
synonym: "mucocele of the appendix" EXACT [NCIT:C3241]
xref: DOID:13248 {source="MONDO:equivalentTo"}
xref: ICD9:543.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3241 {source="MONDO:Finding", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:13248"}
xref: SCTID:53773002 {source="MONDO:equivalentTo", source="DOID:13248"}
xref: UMLS:C0026684 {source="MEDGEN:10116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:13248"} ! intestinal disorder

[Term]
id: MONDO:0001672
name: bronchus cancer
def: "A malignant neoplasm involving the bronchus" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "bronchus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of bronchus" EXACT [MONDO:patterns/cancer]
synonym: "malignant bronchus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of bronchus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of bronchus and lung" NARROW [DOID:1325]
synonym: "malignant neoplasm of bronchus and lung, unspecified" NARROW [DOID:1325, ICD9CM:162.9]
synonym: "malignant neoplasm of bronchus or lung" RELATED [DOID:1325]
xref: DOID:1325 {source="MONDO:equivalentTo"}
xref: ICD10CM:C34 {source="DOID:1325"}
xref: ICD10CM:C34.9 {source="DOID:1325"}
xref: ICD9:162.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1325"}
xref: MEDGEN:730206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187875007 {source="DOID:1325"}
xref: SCTID:190092003 {source="DOID:1325"}
xref: SCTID:269465004 {source="DOID:1325"}
xref: SCTID:363493006 {source="MONDO:equivalentTo"}
xref: UMLS:C1322284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:730206"}
is_a: MONDO:0000376 {source="DOID:1325", source="MONDO:Redundant"} ! respiratory system cancer
is_a: MONDO:0002807 {source="MONDO:Redundant"} ! bronchial neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002185 ! bronchus

[Term]
id: MONDO:0001673
name: diarrheal disease
def: "The condition of having at least three loose or liquid bowel movements each day." [Wikipedia:Diarrhea]
subset: otar {source="MONDO:OTAR"}
synonym: "diarrhea" EXACT [DOID:13250]
synonym: "diarrhea of presumed infectious origin" RELATED [DOID:13250]
synonym: "diarrheal disease" EXACT []
synonym: "diarrheal disorder" EXACT []
synonym: "diarrhoea" EXACT OMO:0003005 []
synonym: "diarrhoea of presumed infectious origin" RELATED OMO:0003005 []
synonym: "frequent stools" EXACT [NCIT:C2987]
synonym: "loose stools" EXACT [NCIT:C2987]
xref: DOID:13250 {source="MONDO:equivalentTo"}
xref: HP:0002014 {source="MONDO:otherHierarchy"}
xref: ICD9:009.2 {source="DOID:13250"}
xref: MEDGEN:713159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003967 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:13250"}
xref: NCIT:C2987 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: SCTID:111939009 {source="MONDO:relatedTo", source="DOID:13250"}
xref: SCTID:128333008 {source="MONDO:equivalentTo"}
xref: SCTID:154268000 {source="DOID:13250"}
xref: SCTID:154279005 {source="DOID:13250"}
xref: SCTID:186165000 {source="DOID:13250"}
xref: SCTID:186167008 {source="DOID:13250"}
xref: SCTID:19213003 {source="DOID:13250"}
xref: SCTID:236076004 {source="DOID:13250"}
xref: SCTID:266173000 {source="DOID:13250"}
xref: SCTID:266180003 {source="DOID:13250"}
xref: UMLS:C1290807 {source="MEDGEN:713159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="DOID:13250", source="MONDO:Redundant"} ! digestive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_major_feature HP:0002014 ! Diarrhea
relationship: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system

[Term]
id: MONDO:0001674
name: diverticulitis of colon
def: "Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation." [MESH:D004239]
subset: otar {source="MONDO:OTAR"}
synonym: "colon diverticulitis" EXACT [MONDO:patterns/location]
synonym: "colonic diverticular disease" EXACT [DOID:13254]
xref: DOID:13254 {source="MONDO:equivalentTo"}
xref: ICD9:562.11 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:562.12 {source="DOID:13254"}
xref: MEDGEN:3877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004239 {source="MONDO:equivalentTo", source="DOID:13254"}
xref: SCTID:111359004 {source="MONDO:equivalentTo"}
xref: UMLS:C0012814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3877"}
is_a: MONDO:0003409 {source="DOID:13254", source="MESH:D004239/inferred", source="MONDO:Redundant"} ! colonic disorder
is_a: MONDO:0004235 {source="DOID:13254", source="MONDO:Redundant"} ! diverticulitis
intersection_of: MONDO:0004235 ! diverticulitis
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0001675
name: obsolete porphyria
is_obsolete: true
replaced_by: MONDO:0019142

[Term]
id: MONDO:0001676
name: erythropoietic protoporphyria
def: "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." [https://github.com/monarch-initiative/mondo/issues/1737]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EPP" RELATED EXCLUDE [DOID:13270]
synonym: "EPP (erythropoietic protoporphyria porphyria)" EXACT [DOID:13270]
synonym: "protoporphyria" EXACT [DOID:13270]
xref: DOID:13270 {source="MONDO:equivalentTo"}
xref: ICD10CM:E80.0 {source="DOID:13270"}
xref: MEDGEN:56455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046351 {source="DOID:13270", source="MONDO:equivalentTo"}
xref: NANDO:1200815 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201266 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84698 {source="DOID:13270"}
xref: OMIMPS:177000 {source="MONDO:equivalentTo"}
xref: Orphanet:79278 {source="DOID:13270"}
xref: SCTID:51022005 {source="DOID:13270", source="MONDO:equivalentTo"}
xref: UMLS:C0162568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56455"}
is_a: MONDO:0002520 {source="DOID:13270", source="MESH:D046351"} ! hepatic porphyria
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:177000"} ! inherited

[Term]
id: MONDO:0001677
name: obsolete Rift valley fever
is_obsolete: true
replaced_by: MONDO:0017880

[Term]
id: MONDO:0001678
name: intestinal tuberculosis
def: "A tuberculosis that involves the intestine." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intestine tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculosis of intestine" EXACT [DOID:13282]
xref: DOID:13282 {source="MONDO:equivalentTo"}
xref: ICD9:014.8 {source="DOID:13282"}
xref: ICD9:014.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:546943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:60136008 {source="MONDO:equivalentTo"}
xref: UMLS:C0275911 {source="MONDO:equivalentTo", source="MEDGEN:546943", source="MONDO:MEDGEN"}
is_a: MONDO:0005768 {source="DOID:13282", source="MONDO:Redundant"} ! gastrointestinal tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_inflammation_site UBERON:0000160 ! intestine
relationship: disease_has_feature HP:0002239 ! Gastrointestinal hemorrhage

[Term]
id: MONDO:0001679
name: obsolete crater-like holes of optic disk
comment: Obsolete as represents a phenotypic feature/finding (todo: add to HPO)
synonym: "crater-like optic disk holes" EXACT [DOID:13295]
xref: DOID:13295 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:377.22 {source="DOID:13295"}
xref: SCTID:19148004 {source="DOID:13295"}
xref: SCTID:194048008 {source="DOID:13295"}
is_obsolete: true

[Term]
id: MONDO:0001680
name: vaginal mullerian papilloma
def: "A benign papilloma that arises from the vagina in infants and young women." [NCIT:C40255]
synonym: "vaginal Muellerian papilloma" EXACT [DOID:133]
synonym: "vaginal Mullerian papilloma" EXACT [NCIT:C40255]
synonym: "vaginal Müllerian papilloma" EXACT [NCIT:C40255]
xref: DOID:133 {source="MONDO:equivalentTo"}
xref: MEDGEN:276952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40255 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:133"}
xref: UMLS:C1519926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276952"}
is_a: MONDO:0000647 {source="MONDO:Redundant", source="NCIT:C40255"} ! benign vaginal neoplasm
is_a: MONDO:0001704 {source="DOID:133", source="MONDO:Redundant", source="NCIT:C40255"} ! vaginal glandular neoplasm
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C40255"} ! papilloma
intersection_of: MONDO:0000647 {source="NCIT:C40255"} ! benign vaginal neoplasm
intersection_of: MONDO:0001704 {source="NCIT:C40255"} ! vaginal glandular neoplasm
intersection_of: MONDO:0002363 {source="NCIT:C40255"} ! papilloma

[Term]
id: MONDO:0001681
name: diphtheritic cystitis
def: "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." [DOID:13306, http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false, PMID:18889690]
xref: DOID:13306 {source="MONDO:equivalentTo"}
xref: ICD10CM:A36.85 {source="DOID:13306", source="MONDO:equivalentTo"}
xref: ICD9:032.84 {source="DOID:13306", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197847008 {source="DOID:13306"}
xref: SCTID:48278001 {source="DOID:13306", source="MONDO:equivalentTo"}
xref: UMLS:C0152954 {source="MEDGEN:509093", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006032 {source="DOID:13306"} ! cystitis

[Term]
id: MONDO:0001682
name: diphtheritic peritonitis
def: "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." [DOID:13310, http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false]
xref: DOID:13310 {source="MONDO:equivalentTo"}
xref: ICD10CM:A36.89 {source="DOID:13310"}
xref: ICD9:032.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13310"}
xref: MEDGEN:509092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:13596001 {source="MONDO:equivalentTo", source="DOID:13310"}
xref: UMLS:C0152953 {source="MEDGEN:509092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004522 {source="DOID:13310"} ! peritonitis

[Term]
id: MONDO:0001683
name: pancreatic mucinous ductal ectasia
xref: DOID:13313 {source="MONDO:equivalentTo"}
xref: MEDGEN:233831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5717 {source="MONDO:equivalentTo", source="DOID:13313"}
xref: UMLS:C1335310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233831"}
is_a: MONDO:0002356 {source="DOID:13313", source="NCIT:C5717/inferred"} ! pancreas disorder
relationship: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0001684
name: exocrine pancreatic insufficiency
def: "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders." [NCIT:C84316]
subset: otar {source="MONDO:OTAR"}
synonym: "exocrine pancreas insufficiency" RELATED [NCIT:C84316]
synonym: "exocrine pancreatic insufficiency" EXACT [NCIT:C84316]
synonym: "pancreatic insufficiency" RELATED [NCIT:C84316]
xref: DOID:13316 {source="MONDO:equivalentTo"}
xref: ICD10CM:K86.81 {source="MONDO:equivalentTo"}
xref: ICD9:577.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010188 {source="DOID:13316", source="MONDO:equivalentTo"}
xref: NCIT:C84316 {source="DOID:13316", source="MONDO:equivalentTo"}
xref: SCTID:47367009 {source="DOID:13316", source="MONDO:equivalentTo"}
xref: UMLS:C0267963 {source="MEDGEN:75647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002356 {source="DOID:13316", source="MESH:D010188", source="NCIT:C84316/inferred"} ! pancreas disorder
relationship: disease_has_location UBERON:0000017 ! exocrine pancreas

[Term]
id: MONDO:0001685
name: chronic follicular conjunctivitis
xref: DOID:13326 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.43 {source="DOID:13326"}
xref: ICD9:372.12 {source="DOID:13326", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:39429002 {source="DOID:13326", source="MONDO:equivalentTo"}
xref: UMLS:C0155147 {source="MEDGEN:509808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002314 {source="DOID:13326"} ! chronic conjunctivitis

[Term]
id: MONDO:0001686
name: anatomical narrow angle borderline glaucoma
xref: DOID:13327 {source="MONDO:equivalentTo"}
xref: ICD9:365.02 {source="DOID:13327"}
xref: MEDGEN:1843458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0154941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843458"}
is_a: MONDO:0004744 {source="DOID:13327"} ! borderline glaucoma

[Term]
id: MONDO:0001687
name: diabetic cataract
synonym: "cataract - diabetic" EXACT [DOID:13328]
xref: DOID:13328 {source="MONDO:equivalentTo"}
xref: ICD9:366.41 {source="DOID:13328", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:507634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154678005 {source="DOID:13328"}
xref: SCTID:155129005 {source="DOID:13328"}
xref: SCTID:267471001 {source="DOID:13328"}
xref: SCTID:267722005 {source="DOID:13328"}
xref: SCTID:43959009 {source="DOID:13328", source="MONDO:equivalentTo"}
xref: UMLS:C0011876 {source="MEDGEN:507634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:13328"} ! cataract

[Term]
id: MONDO:0001688
name: toxic optic neuropathy
comment: Editor note: todo - grouping class
xref: DOID:13329 {source="MONDO:equivalentTo"}
xref: ICD10CM:H46.3 {source="DOID:13329", source="MONDO:equivalentTo"}
xref: ICD9:377.34 {source="DOID:13329", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000081028 {source="MONDO:equivalentTo"}
xref: SCTID:194053003 {source="DOID:13329"}
xref: SCTID:26125006 {source="DOID:13329", source="MONDO:equivalentTo"}
xref: UMLS:C0155303 {source="MEDGEN:509903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005885 {source="DOID:13329", source="ICD10CM:H46.3"} ! optic neuritis

[Term]
id: MONDO:0001689
name: hypertrophy of tongue papillae
synonym: "tongue papillary hypertrophy" EXACT [DOID:13333]
xref: DOID:13333 {source="MONDO:equivalentTo"}
xref: ICD10CM:K14.3 {source="MONDO:equivalentTo", source="DOID:13333"}
xref: ICD9:529.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13333"}
xref: MEDGEN:581137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196584007 {source="DOID:13333"}
xref: SCTID:6971002 {source="MONDO:equivalentTo", source="DOID:13333"}
xref: UMLS:C0392494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581137"}
is_a: MONDO:0001165 {source="DOID:13333"} ! tongue disorder

[Term]
id: MONDO:0001690
name: parasitic conjunctivitis
xref: DOID:13341 {source="MONDO:equivalentTo"}
xref: ICD9:372.15 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13341"}
xref: MEDGEN:509809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:13816006 {source="MONDO:equivalentTo", source="DOID:13341"}
xref: UMLS:C0155148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509809"}
is_a: MONDO:0002314 {source="DOID:13341"} ! chronic conjunctivitis

[Term]
id: MONDO:0001691
name: laryngeal cartilage cancer
def: "A malignant neoplasm involving the laryngeal cartilage." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of laryngeal cartilage" EXACT [MONDO:patterns/cancer]
synonym: "laryngeal cartilage cancer" EXACT [MONDO:patterns/location]
synonym: "malignant laryngeal cartilage neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of laryngeal cartilage" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of laryngeal cartilages" EXACT [DOID:13348, ICD9CM:161.3]
synonym: "malignant tumor of laryngeal cartilage" EXACT [DOID:13348]
synonym: "malignant tumour of laryngeal cartilage" EXACT OMO:0003005 []
xref: DOID:13348 {source="MONDO:equivalentTo"}
xref: ICD10CM:C32.3 {source="DOID:13348"}
xref: ICD9:161.3 {source="DOID:13348", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:109370001 {source="DOID:13348"}
xref: SCTID:187847005 {source="DOID:13348"}
xref: SCTID:363431006 {source="DOID:13348", source="MONDO:equivalentTo"}
xref: UMLS:C0153486 {source="MEDGEN:509306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002352 {source="DOID:13348", source="MONDO:Redundant"} ! larynx cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001739 ! laryngeal cartilage
relationship: excluded_subClassOf MONDO:0002129 {source="https://orcid.org/0000-0001-5208-3432"} ! bone cancer

[Term]
id: MONDO:0001692
name: pedophilia
def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children." [NCIT:P378]
synonym: "Paedophilia" EXACT [DOID:13351]
xref: DOID:13351 {source="MONDO:equivalentTo"}
xref: ICD10CM:F65.4 {source="MONDO:equivalentTo", source="DOID:13351"}
xref: ICD9:302.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13351"}
xref: MEDGEN:18340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010378 {source="MONDO:equivalentTo", source="DOID:13351"}
xref: NCIT:C94355 {source="MONDO:equivalentTo", source="DOID:13351"}
xref: SCTID:154907002 {source="DOID:13351"}
xref: SCTID:192516001 {source="DOID:13351"}
xref: SCTID:268763002 {source="DOID:13351"}
xref: SCTID:84002002 {source="MONDO:equivalentTo", source="DOID:13351"}
xref: UMLS:C0030764 {source="MEDGEN:18340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000596 {source="DOID:13351", source="MESH:D010378"} ! paraphilic disorder

[Term]
id: MONDO:0001693
name: obsolete ego-dystonic sexual orientation
def: "OBSOLETE. A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation." [DOID:13352, http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation]
xref: DOID:13352 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:302.0 {source="DOID:13352"}
xref: SCTID:52813007 {source="DOID:13352"}
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6585" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0001694
name: diffuse interstitial keratitis
xref: DOID:13353 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.32 {source="DOID:13353"}
xref: ICD9:370.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13353"}
xref: MEDGEN:509780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:17157001 {source="MONDO:equivalentTo", source="DOID:13353"}
xref: SCTID:193785001 {source="DOID:13353"}
xref: SCTID:267635007 {source="DOID:13353"}
xref: UMLS:C0155089 {source="MONDO:equivalentTo", source="MEDGEN:509780", source="MONDO:MEDGEN"}
is_a: MONDO:0004902 {source="DOID:13353"} ! interstitial keratitis

[Term]
id: MONDO:0001695
name: senile ectropion
synonym: "involutional ectropion" EXACT [DOID:13356]
xref: DOID:13356 {source="MONDO:equivalentTo"}
xref: ICD9:374.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13356"}
xref: MEDGEN:509841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:71659009 {source="MONDO:equivalentTo", source="DOID:13356"}
xref: UMLS:C0155193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509841"}
is_a: MONDO:0002043 {source="DOID:13356"} ! ectropion

[Term]
id: MONDO:0001696
name: obsolete Ehlers-Danlos syndrome
is_obsolete: true
replaced_by: MONDO:0020066

[Term]
id: MONDO:0001697
name: reading disorder
def: "A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process." [DOID:13365, http://en.wikipedia.org/wiki/Learning_disabilities#Writing_disorder_.28ICD-10_and_DSM-IV_codes_F81.1.2F315.2.29, http://en.wikipedia.org/wiki/Reading_disability]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13365 {source="MONDO:equivalentTo"}
xref: ICD9:315.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:315.09 {source="DOID:13365"}
xref: SCTID:52824009 {source="MONDO:equivalentTo"}
is_a: MONDO:0004681 {source="DOID:13365"} ! learning disability

[Term]
id: MONDO:0001698
name: tinea profunda
def: "A dermatophytosis that involves the deep dermal layers." [https://www.derm-hokudai.jp/shimizu-dermatology/pdf/25-01.pdf]
synonym: "deep seated dermatophytosis" RELATED [DOID:13368, ICD9CM:110.6]
synonym: "granuloma trichophyticum" EXACT [DOID:13368]
synonym: "Majocchi's granuloma" RELATED [DOID:13368]
xref: DOID:13368 {source="MONDO:equivalentTo"}
xref: MEDGEN:702632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186995009 {source="DOID:13368"}
xref: SCTID:214600002 {source="MONDO:equivalentTo", source="DOID:13368"}
xref: SCTID:58950002 {source="DOID:13368"}
xref: UMLS:C1279621 {source="MEDGEN:702632", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004678 ! dermatophytosis
relationship: disease_has_infectious_agent NCBITaxon:523103 ! Trichophyton mentagrophytes
relationship: excluded_subClassOf MONDO:0001461 {source="DOID:13368", source="https://orcid.org/0000-0001-5208-3432"} ! tinea corporis

[Term]
id: MONDO:0001699
name: tinea manuum
def: "A dermatophytosis that involves the hands." [MONDO:patterns/location]
synonym: "dermatophytosis of hand" EXACT [DOID:13369, ICD9CM:110.2]
synonym: "dermatophytosis of manus" EXACT [MONDO:design_pattern]
synonym: "manus dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "Tinea manus" EXACT [DOID:13369]
xref: DOID:13369 {source="MONDO:equivalentTo"}
xref: ICD10CM:B35.2 {source="MONDO:equivalentTo", source="DOID:13369"}
xref: ICD9:110.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13369"}
xref: MEDGEN:509222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:48971001 {source="MONDO:equivalentTo", source="DOID:13369"}
xref: UMLS:C0153246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509222"}
is_a: MONDO:0004678 {source="DOID:13369", source="ICD10CM:B35.2", source="MONDO:Redundant"} ! dermatophytosis
intersection_of: MONDO:0004678 ! dermatophytosis
intersection_of: disease_has_location UBERON:0002398 ! manus
relationship: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
relationship: disease_has_infectious_agent NCBITaxon:4890 ! Ascomycota

[Term]
id: MONDO:0001700
name: megaloblastic anemia
def: "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Grasbeck-Imerslund syndrome" EXACT [DOID:13382]
synonym: "IGS" RELATED ABBREVIATION [DOID:13382]
synonym: "Imerslund-Grasbeck syndrome" RELATED EXCLUDE [DOID:13382]
synonym: "megaloblastic anaemia (disease)" EXACT OMO:0003005 []
synonym: "megaloblastic anemia" EXACT [MONDO:ambiguous]
synonym: "megaloblastic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "MGA1 Norwegian type" EXACT [DOID:13382]
synonym: "recessive hereditary megaloblastic anaemia 1" EXACT OMO:0003005 []
synonym: "recessive hereditary megaloblastic anemia 1" EXACT [DOID:13382]
synonym: "RH-MGA1" EXACT [DOID:13382]
xref: DOID:13382 {source="MONDO:equivalentTo"}
xref: HP:0001889 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D53.1 {source="DOID:13382"}
xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000749 {source="DOID:13382"}
xref: NANDO:2100176 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200612 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34382 {source="MONDO:equivalentTo", source="DOID:13382"}
xref: SCTID:154788000 {source="DOID:13382"}
xref: SCTID:154792007 {source="DOID:13382"}
xref: SCTID:191138009 {source="DOID:13382"}
xref: SCTID:191165002 {source="DOID:13382"}
xref: SCTID:191166001 {source="DOID:13382"}
xref: SCTID:234357005 {source="DOID:13382"}
xref: SCTID:267554004 {source="DOID:13382"}
xref: SCTID:53165003 {source="MONDO:equivalentTo", source="DOID:13382"}
xref: UMLS:C0002888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1527"}
is_a: MONDO:0002281 {source="DOID:13382", source="NCIT:C34382"} ! macrocytic anemia
property_value: IAO:0000589 "megaloblastic anemia (disease)" xsd:string

[Term]
id: MONDO:0001701
name: gastrointestinal anthrax
def: "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." [DOID:13386, http://emedicine.medscape.com/article/212127-overview#a0104, http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous, http://www.springerlink.com/content/g3575hwr232l4411/]
xref: DOID:13386 {source="MONDO:equivalentTo"}
xref: ICD10CM:A22.2 {source="MONDO:equivalentTo", source="DOID:13386"}
xref: ICD9:022.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13386"}
xref: MEDGEN:102256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C571911 {source="MONDO:equivalentTo", source="DOID:13386"}
xref: SCTID:111798006 {source="MONDO:equivalentTo", source="DOID:13386"}
xref: SCTID:186302005 {source="DOID:13386"}
xref: UMLS:C0152945 {source="MEDGEN:102256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005119 {source="DOID:13386", source="MESH:C571911", source="MONDO:Redundant"} ! anthrax infection
intersection_of: MONDO:0005119 ! anthrax infection
intersection_of: disease_has_location UBERON:0001007 ! digestive system
relationship: disease_has_infectious_agent NCBITaxon:1392 ! Bacillus anthracis

[Term]
id: MONDO:0001702
name: labia majora carcinoma
def: "A carcinoma that arises from the labia majora." [NCIT:C9363]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma of labia majora" EXACT [DOID:13389, NCIT:C9363]
synonym: "carcinoma of labium majora" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the labia majora" EXACT [NCIT:C9363]
synonym: "labia majora cancer" EXACT [DOID:13389, NCIT:C9363]
synonym: "labia majora carcinoma" EXACT [NCIT:C9363]
synonym: "labium majora carcinoma" EXACT []
xref: DOID:13389 {source="MONDO:equivalentTo"}
xref: MEDGEN:235247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9363 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:13389"}
xref: UMLS:C1334356 {source="MONDO:equivalentTo", source="MEDGEN:235247", source="MONDO:MEDGEN"}
is_a: MONDO:0001403 {source="DOID:13389", source="MONDO:Redundant", source="NCIT:C9363"} ! labium majus cancer
is_a: MONDO:0002656 {source="DOID:13389", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin carcinoma
is_a: MONDO:0005215 {source="DOID:13389", source="MONDO:Redundant", source="NCIT:C9363"} ! vulvar carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0004085 ! labium majora

[Term]
id: MONDO:0001703
name: color vision disorder
def: "The absence of or defect in the perception of colors." [NCIT:P378]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98658"}
subset: otar {source="MONDO:OTAR"}
synonym: "blindness color" EXACT [DOID:13399, MTH:NOCODE]
synonym: "blindness colour" EXACT OMO:0003005 []
synonym: "color blindness" EXACT [DOID:13399]
synonym: "color vision defects" EXACT [NCIT:C3891]
synonym: "color vision deficiency" EXACT [DOID:13399, NCIT:C3891]
synonym: "color-vision disease" EXACT [MONDO:0020239]
synonym: "colour blindness" EXACT OMO:0003005 []
synonym: "colour vision defects" EXACT OMO:0003005 []
synonym: "colour vision deficiency" EXACT OMO:0003005 []
xref: DOID:13399 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.5 {source="Orphanet:98658", source="DOID:13399", source="Orphanet:98658/attributed", source="Orphanet:98658/ntbt"}
xref: ICD10CM:H53.50 {source="DOID:13399"}
xref: ICD9:368.5 {source="DOID:13399"}
xref: ICD9:368.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1826147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003117 {source="DOID:13399"}
xref: NCIT:C3891 {source="MONDO:equivalentTo", source="DOID:13399"}
xref: Orphanet:98658 {source="MONDO:equivalentTo"}
xref: SCTID:155143000 {source="DOID:13399"}
xref: SCTID:193683001 {source="MONDO:equivalentTo", source="DOID:13399"}
xref: SCTID:193685008 {source="DOID:13399"}
xref: SCTID:53481002 {source="DOID:13399"}
xref: UMLS:C5681659 {source="MEDGEN:1826147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001941 {source="DOID:13399", source="NCIT:C3891"} ! blindness (disorder)
is_a: MONDO:0021084 {source="MONDO:Redundant", source="NCIT:C3891/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! vision disorder
relationship: disease_has_basis_in_dysfunction_of CL:0000573 ! retinal cone cell
relationship: excluded_subClassOf MONDO:0001941 {source="NCIT:C3891", source="https://orcid.org/0000-0001-5208-3432"} ! blindness (disorder)

[Term]
id: MONDO:0001704
name: vaginal glandular neoplasm
def: "A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma." [NCIT:C40250]
synonym: "vagina glandular cell neoplasm" EXACT [MONDO:patterns/location]
synonym: "vaginal glandular neoplasm" EXACT [NCIT:C40250]
synonym: "vaginal glandular tumor" EXACT [NCIT:C40250]
synonym: "vaginal glandular tumour" EXACT OMO:0003005 []
xref: DOID:134 {source="MONDO:equivalentTo"}
xref: MEDGEN:275574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40250 {source="MONDO:equivalentTo", source="DOID:134"}
xref: UMLS:C1519921 {source="MEDGEN:275574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C40250"} ! vaginal neoplasm
intersection_of: MONDO:0024276 {source="NCIT:C40250"} ! glandular cell neoplasm
intersection_of: disease_has_location UBERON:0000996 {source="NCIT:C40250"} ! vagina

[Term]
id: MONDO:0001705
name: pure red-cell aplasia
def: "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia." [NCIT:P378]
subset: gard_rare {source="GARD:7504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1636"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PRCA" EXACT ABBREVIATION [NCIT:C34974]
synonym: "primary red cell aplasia" EXACT [DOID:1340]
synonym: "pure red cell aplasia" EXACT [DOID:1340, NCIT:C34974]
synonym: "Pure Red Cell Aplasia, Acquired" EXACT [NORD:1636]
synonym: "red cell hypoplasia" EXACT [DOID:1340]
xref: DOID:1340 {source="MONDO:equivalentTo"}
xref: GARD:7504 {source="MONDO:GARD"}
xref: ICD9:284.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012010 {source="DOID:1340", source="MONDO:equivalentTo"}
xref: NANDO:2100177 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34974 {source="DOID:1340", source="MONDO:equivalentTo"}
xref: NORD:1636 {source="MONDO:NORD"}
xref: SCTID:191252000 {source="DOID:1340"}
xref: SCTID:191253005 {source="DOID:1340"}
xref: SCTID:50715003 {source="DOID:1340", source="MONDO:equivalentTo"}
xref: UMLS:C0034902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11154"}
is_a: MONDO:0002280 {source="DOID:1340/inferred", source="MESH:D012010"} ! anemia
is_a: MONDO:0005570 {source="DOID:1340/inferred", source="MESH:D012010/inferred", source="NCIT:C34974/inferred"} ! hematologic disorder
relationship: excluded_subClassOf MONDO:0012197 {source="DOID:1340", source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic aplastic anemia

[Term]
id: MONDO:0001706
name: cerebral sarcoidosis
def: "Sarcoidosis of the cerebrum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cerebral sarcoidosis" EXACT [DOID:13403, NCIT:C35441]
synonym: "sarcoidosis of telencephalon" EXACT [MONDO:design_pattern]
synonym: "telencephalon sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:13403 {source="MONDO:equivalentTo"}
xref: MEDGEN:140767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35441 {source="DOID:13403", source="MONDO:equivalentTo"}
xref: SCTID:111936002 {source="DOID:13403", source="MONDO:equivalentTo"}
xref: UMLS:C0398676 {source="MEDGEN:140767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019338 {source="DOID:13403", source="NCIT:C35441"} ! sarcoidosis
intersection_of: MONDO:0019338 ! sarcoidosis
intersection_of: disease_has_location UBERON:0001893 ! telencephalon
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0001707
name: cardiac sarcoidosis
def: "Sarcoidosis affecting the tissues of the heart." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "heart sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sarcoidosis of heart" EXACT [MONDO:design_pattern]
xref: DOID:13405 {source="MONDO:equivalentTo"}
xref: MEDGEN:140260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35589 {source="DOID:13405", source="MONDO:equivalentTo"}
xref: SCTID:75403004 {source="DOID:13405", source="MONDO:equivalentTo"}
xref: UMLS:C0392077 {source="MEDGEN:140260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016345 {source="Orphanet:797-moved"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0019338 {source="DOID:13405", source="MONDO:Redundant", source="NCIT:C35589"} ! sarcoidosis
intersection_of: MONDO:0019338 ! sarcoidosis
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0001708
name: pulmonary sarcoidosis
def: "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lung sarcoidosis" EXACT [DOID:13406, MONDO:patterns/location, NCIT:C34997]
synonym: "sarcoidosis of lung" EXACT [MONDO:design_pattern]
xref: DOID:13406 {source="MONDO:equivalentTo"}
xref: ICD10CM:D86.0 {source="DOID:13406"}
xref: ICD9:517.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017565 {source="DOID:13406", source="MONDO:equivalentTo"}
xref: NCIT:C34997 {source="DOID:13406", source="MONDO:equivalentTo"}
xref: SCTID:187230004 {source="DOID:13406"}
xref: SCTID:24369008 {source="DOID:13406", source="MONDO:equivalentTo"}
xref: UMLS:C0036205 {source="MEDGEN:19873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017026 ! interstitial lung disease specific to adulthood
is_a: MONDO:0019338 {source="DOID:13406", source="MESH:D017565", source="MONDO:Redundant", source="NCIT:C34997"} ! sarcoidosis
intersection_of: MONDO:0019338 ! sarcoidosis
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: disease_has_location UBERON:0008946 ! lung parenchyma

[Term]
id: MONDO:0001709
name: hypercalcemic sarcoidosis
def: "Sarcoidosis with a complication of hypercalcemia." [PMID:17685088]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:13407 {source="MONDO:equivalentTo"}
xref: MEDGEN:272729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35807 {source="DOID:13407", source="MONDO:equivalentTo"}
xref: UMLS:C1334067 {source="MONDO:equivalentTo", source="MEDGEN:272729", source="MONDO:MEDGEN"}
is_a: MONDO:0019338 {source="DOID:13407", source="MONDO:Redundant", source="NCIT:C35807"} ! sarcoidosis
intersection_of: MONDO:0019338 ! sarcoidosis
intersection_of: disease_has_feature HP:0003072 ! Hypercalcemia

[Term]
id: MONDO:0001710
name: perforation of bile duct
def: "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes." [NCIT:P378]
xref: DOID:13409 {source="MONDO:equivalentTo"}
xref: ICD10CM:K83.2 {source="MONDO:equivalentTo", source="DOID:13409"}
xref: ICD9:576.3 {source="MONDO:equivalentTo", source="DOID:13409", source="MONDO:i2s"}
xref: MEDGEN:56376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78528 {source="MONDO:otherHierarchy", source="DOID:13409"}
xref: SCTID:37439003 {source="MONDO:equivalentTo", source="DOID:13409"}
xref: UMLS:C0156218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56376"}
is_a: MONDO:0004868 {source="DOID:13409"} ! biliary tract disorder
relationship: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0001711
name: hepatic encephalopathy
def: "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis." [https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy]
synonym: "encephalopathy, hepatic" RELATED [GARD:0010452]
synonym: "Hepatoencephalopathy" RELATED [GARD:0010452]
synonym: "portal-systemic encephalopathy" EXACT [DOID:13413]
xref: DOID:13413 {source="MONDO:equivalentTo"}
xref: ICD10CM:K72 {source="DOID:13413"}
xref: ICD9:572.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13413"}
xref: MEDGEN:5513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006501 {source="MONDO:equivalentTo", source="DOID:13413"}
xref: NCIT:C79596 {source="MONDO:equivalentTo", source="DOID:13413"}
xref: SCTID:123049003 {source="DOID:13413"}
xref: SCTID:13920009 {source="MONDO:equivalentTo", source="DOID:13413"}
xref: SCTID:197332007 {source="DOID:13413"}
xref: SCTID:449902003 {source="DOID:13413"}
xref: UMLS:C0019151 {source="MEDGEN:5513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:13413", source="MESH:D006501/inferred", source="NCIT:C79596"} ! brain disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy" xsd:anyURI {source="GARD:0010452"}

[Term]
id: MONDO:0001712
name: alexia
def: "A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases." [MESH:D004411]
synonym: "acquired alexia" RELATED [MESH:D004411]
synonym: "acquired dyslexia" RELATED [DOID:13417, MESH:D004411]
synonym: "acquired global dyslexia" RELATED [MESH:D004411]
synonym: "acquired reading disabilities" RELATED [MESH:D004411]
synonym: "acquired reading disability" RELATED [MESH:D004411]
synonym: "acquired spelling dyslexia" RELATED [MESH:D004411]
synonym: "acquired Word blindness" RELATED [MESH:D004411]
synonym: "acquired Word Blindnesses" RELATED [MESH:D004411]
synonym: "alexia, acquired" RELATED [MESH:D004411]
synonym: "aphemesthaesia" EXACT [DOID:13417]
synonym: "blindness, acquired Word" RELATED [MESH:D004411]
synonym: "Blindnesses, acquired Word" RELATED [MESH:D004411]
synonym: "disabilities, acquired reading" RELATED [MESH:D004411]
synonym: "disability, acquired reading" RELATED [MESH:D004411]
synonym: "dyslexia, acquired global" RELATED [MESH:D004411]
synonym: "dyslexia, acquired spelling" RELATED [MESH:D004411]
synonym: "global dyslexia, acquired" RELATED [MESH:D004411]
synonym: "reading disabilities, acquired" RELATED [MESH:D004411]
synonym: "reading disability, acquired" RELATED [MESH:D004411]
synonym: "spelling dyslexia, acquired" RELATED [MESH:D004411]
synonym: "Word blindness, acquired" RELATED [MESH:D004411]
synonym: "Word Blindnesses, acquired" RELATED [MESH:D004411]
xref: DOID:13417 {source="MONDO:equivalentTo"}
xref: ICD9:315.01 {source="DOID:13417"}
xref: MEDGEN:1809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004410 {source="DOID:13417"}
xref: MESH:D004411 {source="DOID:13417", source="MONDO:equivalentTo"}
xref: SCTID:158316004 {source="DOID:13417"}
xref: SCTID:206985003 {source="DOID:13417"}
xref: SCTID:9236007 {source="DOID:13417"}
xref: UMLS:C0002018 {source="MEDGEN:1809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000685 {source="https://orcid.org/0000-0002-6601-2165"} ! visual agnosia
is_a: MONDO:0001697 {source="https://www.nichd.nih.gov/health/topics/reading/conditioninfo/disorders"} ! reading disorder
is_a: MONDO:0002039 {source="MESH:D004411"} ! cognitive disorder
is_a: MONDO:0005638 {source="DOID:13417", source="MONDO:Redundant", source="MONDO:indirect"} ! agnosia
relationship: disease_has_feature HP:0010522 ! Dyslexia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4484" xsd:anyURI

[Term]
id: MONDO:0001713
name: inherited aplastic anemia
def: "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." [MESH:D029502]
comment: In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency
subset: disease_grouping
subset: gard_rare {source="GARD:18889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:68383"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital aplastic anaemia" RELATED OMO:0003005 []
synonym: "congenital aplastic anemia" RELATED []
synonym: "congenital hypoplastic anaemia" RELATED OMO:0003005 []
synonym: "congenital hypoplastic anemia" RELATED [DOID:1342]
synonym: "constitutional aplastic anaemia" EXACT OMO:0003005 []
synonym: "constitutional aplastic anemia" EXACT [DOID:1342]
synonym: "hereditary aplastic anaemia" EXACT OMO:0003005 []
synonym: "hereditary aplastic anemia" EXACT [MONDO:patterns/hereditary]
synonym: "hypoplastic anaemia - familial" RELATED OMO:0003005 []
synonym: "hypoplastic anemia - familial" RELATED []
synonym: "rare constitutional aplastic anaemia" NARROW OMO:0003005 []
synonym: "rare constitutional aplastic anemia" NARROW [Orphanet:68383]
xref: DOID:1342 {source="MONDO:equivalentTo"}
xref: GARD:18889 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="DOID:1342", source="MONDO:equivalentTo", source="Orphanet:68383", source="Orphanet:68383/attributed", source="Orphanet:68383/ntbt"}
xref: ICD10CM:D61.01 {source="DOID:1342"}
xref: ICD9:284.0 {source="DOID:1342", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:284.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1826154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D029502 {source="DOID:1342", source="MONDO:equivalentTo"}
xref: NANDO:1200302 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201275 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:68383 {source="MONDO:equivalentTo"}
xref: SCTID:154808006 {source="DOID:1342"}
xref: SCTID:188588001 {source="DOID:1342"}
xref: SCTID:191235004 {source="DOID:1342"}
xref: SCTID:191236003 {source="DOID:1342"}
xref: SCTID:191242004 {source="DOID:1342"}
xref: SCTID:267523003 {source="DOID:1342"}
xref: SCTID:28975000 {source="DOID:1342", source="MONDO:equivalentTo"}
xref: SCTID:88854002 {source="DOID:1342"}
xref: UMLS:C5681331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826154"}
is_a: MONDO:0015909 {source="DOID:1342", source="MESH:D029502", source="MONDO:Redundant", source="Orphanet:68383"} ! aplastic anemia
intersection_of: MONDO:0015909 ! aplastic anemia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0012197 {source="DOID:1342", source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic aplastic anemia

[Term]
id: MONDO:0001714
name: bejel
def: "A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum." [Wikipedia:Nonvenereal_endemic_syphilis]
subset: gard_rare {source="GARD:5905", source="MONDO:GARD"}
subset: nord_rare {source="NORD:847", source="MONDO:NORD"}
subset: rare
synonym: "Dichuchwa" RELATED [GARD:0005905]
synonym: "endemic syphilis" RELATED [GARD:0005905, Wikipedia:Nonvenereal_endemic_syphilis]
synonym: "Frenga" RELATED [GARD:0005905]
synonym: "Njovera" EXACT [DOID:13431]
synonym: "nonvenereal endemic syphilis" EXACT [DOID:13431, ICD9CM:104.0, Wikipedia:Nonvenereal_endemic_syphilis]
synonym: "nonvenereal syphilis" RELATED [GARD:0005905, Wikipedia:Nonvenereal_endemic_syphilis]
synonym: "Treponema pallidum subsp. endemicum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema pallidum subsp. endemicum disease or disorder" EXACT []
synonym: "Treponema pallidum subsp. endemicum infectious disease" EXACT []
xref: DOID:13431 {source="MONDO:equivalentTo"}
xref: GARD:5905 {source="MONDO:GARD"}
xref: MEDGEN:2569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014211 {source="MONDO:relatedTo", source="DOID:13431"}
xref: NORD:847 {source="MONDO:NORD"}
xref: SCTID:186978001 {source="DOID:13431"}
xref: SCTID:240686008 {source="DOID:13431"}
xref: UMLS:C0004945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2569"}
is_a: MONDO:0000314 {source="DOID:13431", source="DOID:13431/inferred"} ! primary bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:53436 ! Treponema pallidum subsp. endemicum
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5905/bejel" xsd:anyURI {source="GARD:0005905"}

[Term]
id: MONDO:0001715
name: basilar artery occlusion
xref: DOID:13446 {source="MONDO:equivalentTo"}
xref: ICD10CM:I65.1 {source="DOID:13446"}
xref: ICD9:433.0 {source="DOID:13446"}
xref: ICD9:433.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:433.01 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155396001 {source="DOID:13446"}
xref: SCTID:195180004 {source="MONDO:equivalentTo", source="DOID:13446"}
xref: SCTID:78658006 {source="DOID:13446"}
xref: UMLS:C0265098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539076"}
is_a: MONDO:0003718 {source="DOID:13446"} ! occlusion precerebral artery
intersection_of: MONDO:0020672 ! vascular occlusion disorder
intersection_of: disease_has_location UBERON:0001633 ! basilar artery

[Term]
id: MONDO:0001716
name: corneal argyrosis
synonym: "argentous corneal deposits" EXACT [DOID:13447, ICD9CM:371.16]
synonym: "argyrosis of cornea" EXACT [DOID:13447]
xref: DOID:13447 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.02 {source="DOID:13447"}
xref: ICD9:371.16 {source="DOID:13447", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193809002 {source="DOID:13447"}
xref: SCTID:21328003 {source="DOID:13447", source="MONDO:equivalentTo"}
xref: UMLS:C0155108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509793"}
is_a: MONDO:0000942 {source="DOID:13447"} ! corneal disorder

[Term]
id: MONDO:0001717
name: posterior corneal pigmentation
synonym: "posterior corneal pigmentations" EXACT [DOID:13448, ICD9CM:371.13]
xref: DOID:13448 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.05 {source="DOID:13448"}
xref: ICD9:371.13 {source="DOID:13448", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:11293004 {source="DOID:13448"}
xref: SCTID:193807000 {source="DOID:13448"}
xref: SCTID:267639001 {source="DOID:13448", source="MONDO:equivalentTo"}
xref: UMLS:C0155106 {source="MEDGEN:509792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001308 {source="DOID:13448"} ! corneal deposit

[Term]
id: MONDO:0001718
name: scleritis
def: "Inflammation of the sclera." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "scleritis" EXACT [MONDO:ambiguous]
synonym: "scleritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:13452 {source="MONDO:equivalentTo"}
xref: HP:0100532 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H15.0 {source="DOID:13452"}
xref: ICD10CM:H15.00 {source="DOID:13452"}
xref: ICD9:379.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13452"}
xref: MEDGEN:48585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015423 {source="MONDO:equivalentTo", source="DOID:13452"}
xref: NCIT:C119046 {source="MONDO:equivalentTo", source="DOID:13452"}
xref: SCTID:155201000 {source="DOID:13452"}
xref: SCTID:194139000 {source="DOID:13452"}
xref: SCTID:194140003 {source="DOID:13452"}
xref: SCTID:78370002 {source="MONDO:equivalentTo", source="DOID:13452"}
xref: UMLS:C0036416 {source="MEDGEN:48585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001269 {source="DOID:13452", source="MESH:D015423", source="NCIT:C119046"} ! scleral disorder
property_value: IAO:0000589 "scleritis (disease)" xsd:string

[Term]
id: MONDO:0001719
name: gonococcal bursitis
def: "An bursitis caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae bursitis" EXACT []
synonym: "Neisseria gonorrhoeae caused bursitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:13453 {source="MONDO:equivalentTo"}
xref: ICD10CM:A54.49 {source="DOID:13453"}
xref: ICD9:098.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13453"}
xref: MEDGEN:509211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186928003 {source="DOID:13453"}
xref: SCTID:46699001 {source="MONDO:equivalentTo", source="DOID:13453"}
xref: UMLS:C0153218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509211"}
is_a: MONDO:0002471 {source="DOID:13453", source="MONDO:Redundant"} ! bursitis
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
intersection_of: MONDO:0002471 ! bursitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae

[Term]
id: MONDO:0001720
name: gonococcal synovitis
def: "An synovitis (disease) caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "gonococcal synovitis &/or tenosynovitis" EXACT [DOID:13454]
synonym: "gonococcal synovitis and tenosynovitis" EXACT [DOID:13454, ICD9CM:098.51]
synonym: "gonococcal synovitis or tenosynovitis" EXACT [DOID:13454]
xref: DOID:13454 {source="MONDO:equivalentTo"}
xref: ICD9:098.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13454"}
xref: MEDGEN:546735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186927008 {source="DOID:13454"}
xref: SCTID:266138002 {source="MONDO:equivalentTo", source="DOID:13454"}
xref: UMLS:C0275662 {source="MEDGEN:546735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002400 {source="DOID:13454", source="MONDO:Entailed", source="MONDO:Redundant"} ! synovitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
intersection_of: disease_has_inflammation_site UBERON:0002018 ! synovial membrane of synovial joint

[Term]
id: MONDO:0001721
name: urethral intrinsic sphincter deficiency
synonym: "intrinsic (urethral) sphincter deficiency [ISD]" EXACT [DOID:13461, ICD9CM:599.82]
xref: DOID:13461 {source="MONDO:equivalentTo"}
xref: ICD10CM:N36.42 {source="DOID:13461"}
xref: ICD9:599.82 {source="DOID:13461"}
xref: MEDGEN:843584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:16031000119101 {source="DOID:13461"}
xref: UMLS:C0375381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:843584"}
is_a: MONDO:0004184 {source="DOID:13461", source="MONDO:Entailed"} ! urethral disorder
relationship: disease_has_location UBERON:0004917 ! urethral sphincter

[Term]
id: MONDO:0001722
name: central pterygium
xref: DOID:13473 {source="MONDO:equivalentTo"}
xref: ICD9:372.43 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13473"}
xref: MEDGEN:509816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193882008 {source="DOID:13473"}
xref: SCTID:43300008 {source="MONDO:equivalentTo", source="DOID:13473"}
xref: UMLS:C0155156 {source="MEDGEN:509816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001723 {source="DOID:13473"} ! progressive peripheral pterygium

[Term]
id: MONDO:0001723
name: progressive peripheral pterygium
xref: DOID:13474 {source="MONDO:equivalentTo"}
xref: ICD9:372.42 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13474"}
xref: MEDGEN:509815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193881001 {source="MONDO:equivalentTo", source="DOID:13474"}
xref: SCTID:48480005 {source="DOID:13474"}
xref: UMLS:C0155155 {source="MEDGEN:509815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001055 {source="DOID:13474"} ! conjunctival pterygium

[Term]
id: MONDO:0001724
name: supraglottis cancer
def: "A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." [NCIT:C3545]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca larynx - supraglottis" EXACT [DOID:13476]
synonym: "cancer of supraglottic part of larynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of extrinsic larynx" EXACT [DOID:13476]
synonym: "malignant neoplasm of supraglottic part of larynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of supraglottis" EXACT [DOID:13476, ICD9CM:161.1, NCIT:C3545]
synonym: "malignant neoplasm of the supraglottis" EXACT [NCIT:C3545]
synonym: "malignant supraglottic neoplasm" EXACT [NCIT:C3545]
synonym: "malignant supraglottic part of larynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant supraglottic tumor" EXACT [DOID:13476, NCIT:C3545]
synonym: "malignant supraglottic tumour" EXACT OMO:0003005 []
synonym: "malignant supraglottis neoplasm" EXACT [NCIT:C3545]
synonym: "malignant supraglottis tumor" EXACT [NCIT:C3545]
synonym: "malignant supraglottis tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of supraglottis" EXACT [NCIT:C3545]
synonym: "malignant tumor of the supraglottis" EXACT [NCIT:C3545]
synonym: "malignant tumour of supraglottis" EXACT OMO:0003005 []
synonym: "malignant tumour of the supraglottis" EXACT OMO:0003005 []
synonym: "supraglottic part of larynx cancer" EXACT [MONDO:patterns/location]
xref: DOID:13476 {source="MONDO:equivalentTo"}
xref: ICD10CM:C32.1 {source="MONDO:equivalentTo", source="DOID:13476"}
xref: ICD9:161.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13476"}
xref: MEDGEN:57561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3545 {source="MONDO:equivalentTo", source="DOID:13476"}
xref: SCTID:154482003 {source="DOID:13476"}
xref: SCTID:187842004 {source="MONDO:equivalentTo", source="DOID:13476"}
xref: SCTID:269558005 {source="DOID:13476"}
xref: SCTID:94080006 {source="DOID:13476"}
xref: UMLS:C0153484 {source="MEDGEN:57561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002352 {source="DOID:13476", source="MONDO:Redundant", source="NCIT:C3545"} ! larynx cancer
is_a: MONDO:0004427 {source="MONDO:Redundant", source="NCIT:C3545"} ! supraglottis neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0036263 ! supraglottic part of larynx
property_value: excluded_synonym "supraglottis" xsd:string {source="DOID:13476"}

[Term]
id: MONDO:0001725
name: balanitis xerotica obliterans
def: "A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis." [NCIT:P378]
synonym: "lichen Sclerosus of penis" EXACT [NCIT:C3523]
synonym: "lichen Sclerosus of the penis" EXACT [NCIT:C3523]
synonym: "penile lichen Sclerosus" EXACT [DOID:13477, NCIT:C3523]
xref: DOID:13477 {source="MONDO:equivalentTo"}
xref: ICD9:607.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13477"}
xref: MEDGEN:57542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052798 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C3523 {source="MONDO:equivalentTo", source="DOID:13477"}
xref: SCTID:198028006 {source="DOID:13477"}
xref: SCTID:198033005 {source="MONDO:equivalentTo", source="DOID:13477"}
xref: SCTID:367113004 {source="DOID:13477"}
xref: SCTID:43790000 {source="DOID:13477"}
xref: SCTID:700082001 {source="DOID:13477"}
xref: UMLS:C0152460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57542"}
is_a: MONDO:0006672 {source="DOID:13477", source="NCIT:C3523"} ! balanitis

[Term]
id: MONDO:0001726
name: obsolete childhood disintegrative disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4537" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015681

[Term]
id: MONDO:0001727
name: active cochleovestibular Meniere disease
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "active cochleovestibular Meniere disease" EXACT [DOID:13490]
synonym: "active cochleovestibular Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "active Meniere's disease, cochleovestibular" EXACT [DOID:13490, ICD9CM:386.01]
synonym: "cochleovestibular active Mnire's disease" EXACT [DOID:13490]
xref: DOID:13490 {source="MONDO:equivalentTo"}
xref: ICD9:386.01 {source="DOID:13490", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194348002 {source="DOID:13490", source="MONDO:equivalentTo"}
xref: SCTID:8535002 {source="DOID:13490"}
xref: UMLS:C0155496 {source="MEDGEN:509989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007972 {source="DOID:13490"} ! Meniere disease

[Term]
id: MONDO:0001728
name: active vestibular Meniere disease
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "active Meniere's disease, vestibular" EXACT [DOID:13491, ICD9CM:386.03]
synonym: "active vestibular Meniere disease" EXACT [DOID:13491]
synonym: "active vestibular Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "vestibular active Mnire's disease" EXACT [DOID:13491]
xref: DOID:13491 {source="MONDO:equivalentTo"}
xref: ICD9:386.03 {source="DOID:13491", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194350005 {source="DOID:13491", source="MONDO:equivalentTo"}
xref: SCTID:51003001 {source="DOID:13491"}
xref: UMLS:C0155498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509991"}
is_a: MONDO:0007972 {source="DOID:13491"} ! Meniere disease

[Term]
id: MONDO:0001729
name: active cochlear Meniere disease
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "active cochlear Meniere disease" EXACT [DOID:13492]
synonym: "active cochlear Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "active Meniere's disease, cochlear" EXACT [DOID:13492, ICD9CM:386.02]
synonym: "cochlear active Mnire's disease" EXACT [DOID:13492]
xref: DOID:13492 {source="MONDO:equivalentTo"}
xref: ICD9:386.02 {source="MONDO:equivalentTo", source="DOID:13492", source="MONDO:i2s"}
xref: MEDGEN:509990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194349005 {source="MONDO:equivalentTo", source="DOID:13492"}
xref: SCTID:21653008 {source="DOID:13492"}
xref: UMLS:C0155497 {source="MEDGEN:509990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007972 {source="DOID:13492"} ! Meniere disease

[Term]
id: MONDO:0001730
name: urethral syndrome
subset: otar {source="MONDO:OTAR"}
xref: DOID:13498 {source="MONDO:equivalentTo"}
xref: ICD10CM:N34.3 {source="DOID:13498"}
xref: ICD9:597.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13498"}
xref: MEDGEN:510225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155893003 {source="DOID:13498"}
xref: SCTID:197906006 {source="DOID:13498"}
xref: SCTID:266633007 {source="DOID:13498"}
xref: SCTID:31273004 {source="MONDO:equivalentTo", source="DOID:13498"}
xref: UMLS:C0156279 {source="MONDO:equivalentTo", source="MEDGEN:510225", source="MONDO:MEDGEN"}
is_a: MONDO:0004184 {source="DOID:13498"} ! urethral disorder

[Term]
id: MONDO:0001731
name: benign vaginal mixed epithelial and mesenchymal neoplasm
def: "A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements." [NCIT:C40275]
synonym: "benign vaginal carcinosarcoma" RELATED [DOID:135]
synonym: "benign vaginal mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40275]
synonym: "benign vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40275]
synonym: "benign vaginal mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 []
xref: DOID:135 {source="MONDO:equivalentTo"}
xref: MEDGEN:267349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40275 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:135"}
xref: UMLS:C1511106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267349"}
is_a: MONDO:0000647 {source="DOID:135", source="NCIT:C40275"} ! benign vaginal neoplasm

[Term]
id: MONDO:0001732
name: trigonitis
def: "Inflammation of the trigone of the urinary bladder." [NCIT:P378]
synonym: "inflammation of trigone of urinary bladder" EXACT []
synonym: "trigone of urinary bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:13507 {source="MONDO:equivalentTo"}
xref: ICD10CM:N30.3 {source="DOID:13507", source="MONDO:equivalentTo"}
xref: ICD9:595.3 {source="DOID:13507", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:687797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123175 {source="DOID:13507", source="MONDO:equivalentTo"}
xref: SCTID:155885003 {source="DOID:13507"}
xref: SCTID:197843007 {source="DOID:13507"}
xref: SCTID:197844001 {source="DOID:13507"}
xref: SCTID:266562000 {source="DOID:13507"}
xref: SCTID:266629000 {source="DOID:13507"}
xref: SCTID:74445007 {source="DOID:13507", source="MONDO:equivalentTo"}
xref: UMLS:C1261278 {source="MEDGEN:687797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006032 {source="DOID:13507", source="MONDO:Redundant", source="NCIT:C123175"} ! cystitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001257 ! trigone of urinary bladder

[Term]
id: MONDO:0001733
name: occlusion of tributary of retinal vein
synonym: "venous tributary (branch) occlusion of retina" EXACT [DOID:13514, ICD9CM:362.36]
synonym: "venous tributary branch occlusion of retina" EXACT [DOID:13514]
synonym: "venous tributary occlusion of retina" EXACT [DOID:13514]
xref: DOID:13514 {source="MONDO:equivalentTo"}
xref: ICD9:362.36 {source="DOID:13514"}
xref: MEDGEN:1843479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0154842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843479"}
is_a: MONDO:0002089 {source="DOID:13514"} ! retinal vascular occlusion
is_a: MONDO:0006951 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal vein occlusion
intersection_of: MONDO:0020672 ! vascular occlusion disorder
intersection_of: disease_has_location UBERON:0036300 ! tributary of central retinal vein

[Term]
id: MONDO:0001734
name: tuberous sclerosis
def: "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1802"}
subset: ordo_disorder {source="Orphanet:805"}
subset: orphanet_rare {source="Orphanet:805"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoma sebaceum" RELATED [MESH:D014402]
synonym: "adenoma sebaceum syndrome" RELATED []
synonym: "Bourneville disease" RELATED [MESH:D014402]
synonym: "Bourneville Phacomatosis" RELATED [MESH:D014402]
synonym: "Bourneville phakomatosis" RELATED [MESH:D014402]
synonym: "Bourneville pringle disease" RELATED [MESH:D014402]
synonym: "Bourneville pringle's disease" RELATED [MESH:D014402]
synonym: "Bourneville syndrome" EXACT [MESH:D014402, Orphanet:805]
synonym: "Bourneville's disease" EXACT [DOID:13515, NCIT:C3424]
synonym: "bourneville's disease" RELATED []
synonym: "Bourneville's syndrome" EXACT [GARD:0000946, MESH:D014402]
synonym: "Bourneville-pringle disease" RELATED [MESH:D014402]
synonym: "Bourneville-pringle's disease" RELATED [MESH:D014402]
synonym: "Bourneville-Pringles disease" RELATED [MESH:D014402]
synonym: "cerebral Scleroses" RELATED [MESH:D014402]
synonym: "cerebral sclerosis" EXACT [DOID:13515]
synonym: "disease, Bourneville-pringle" RELATED [MESH:D014402]
synonym: "disease, Bourneville-pringle's" RELATED [MESH:D014402]
synonym: "Epiloia" EXACT [DOID:13515, MESH:D014402]
synonym: "Phacomatosis, Bourneville" RELATED [MESH:D014402]
synonym: "phakomatosis, Bourneville" RELATED [MESH:D014402]
synonym: "sclerosis Tuberosa" RELATED [MESH:D014402]
synonym: "sclerosis, cerebral" RELATED [MESH:D014402]
synonym: "sclerosis, tuberose" RELATED [MESH:D014402]
synonym: "sclerosis, tuberous" RELATED [MESH:D014402]
synonym: "syndrome, Bourneville" RELATED [MESH:D014402]
synonym: "syndrome, Bourneville's" RELATED [MESH:D014402]
synonym: "ts - tuberous sclerosis" RELATED []
synonym: "TSC" EXACT ABBREVIATION [NCIT:C3424]
synonym: "tuberose sclerosis" EXACT [DOID:13515]
synonym: "tuberous sclerosis" EXACT CLINGEN_LABEL [DOID:13515, ICD9CM:759.5, Orphanet:805]
synonym: "tuberous sclerosis Complex" RELATED [MESH:D014402]
synonym: "tuberous sclerosis complex" EXACT [MONDO:0019341]
synonym: "tuberous sclerosis syndrome" EXACT [NCIT:C3424]
xref: DOID:13515 {source="MONDO:equivalentTo"}
xref: GARD:7830 {source="MONDO:GARD"}
xref: ICD10CM:Q85.1 {source="DOID:13515", source="Orphanet:805/specific", source="Orphanet:805", source="Orphanet:805/e"}
xref: icd11.foundation:1903085809 {source="MONDO:equivalentTo", source="Orphanet:805"}
xref: ICD9:759.5 {source="DOID:13515", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10045138 {source="Orphanet:805", source="Orphanet:805/e"}
xref: MEDGEN:22518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014402 {source="DOID:13515", source="MONDO:equivalentTo", source="Orphanet:805", source="Orphanet:805/e"}
xref: NANDO:1200607 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200826 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3424 {source="DOID:13515", source="MONDO:equivalentTo"}
xref: NORD:1802 {source="MONDO:NORD"}
xref: OMIMPS:191100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:805 {source="MONDO:equivalentTo"}
xref: SCTID:157027006 {source="DOID:13515"}
xref: SCTID:157033002 {source="DOID:13515"}
xref: SCTID:268359006 {source="DOID:13515"}
xref: SCTID:7199000 {source="DOID:13515", source="MONDO:equivalentTo"}
xref: UMLS:C0041341 {source="MEDGEN:22518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:13515"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:D014402", source="NCIT:C3424/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0042983 {source="MESH:D014402", source="NCIT:C3424", source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome
relationship: disease_has_feature MONDO:0006499 {source="MESH:D014402"} ! hamartoma
relationship: excluded_subClassOf MONDO:0016756 {source="Orphanet:805", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited nervous system cancer-predisposing syndrome
relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:805", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited renal cancer-predisposing syndrome
relationship: excluded_subClassOf MONDO:0024237 {source="MESH:D014402", source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:191100"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1489" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6025" xsd:anyURI

[Term]
id: MONDO:0001735
name: paranasal sinus disorder
def: "A disease involving the paranasal sinus." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of paranasal sinus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of paranasal sinus" EXACT []
synonym: "disorder of nasal sinus" EXACT [DOID:1352]
synonym: "disorder of paranasal sinus" EXACT [MONDO:patterns/location_top]
synonym: "paranasal sinus disease" EXACT [MONDO:patterns/location, NCIT:C26843]
synonym: "paranasal sinus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "paranasal sinus disorder" EXACT [NCIT:C26843]
synonym: "sinus disorder" EXACT [NCIT:C26843]
xref: DOID:1352 {source="MONDO:equivalentTo"}
xref: EFO:0009481 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:478.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010254 {source="DOID:1352", source="MONDO:equivalentTo"}
xref: NCIT:C26843 {source="DOID:1352", source="MONDO:equivalentTo"}
xref: SCTID:195823002 {source="DOID:1352"}
xref: SCTID:7393007 {source="DOID:1352", source="MONDO:equivalentTo"}
xref: UMLS:C0030469 {source="MEDGEN:14608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002436 {source="DOID:1352", source="MESH:D010254"} ! nasal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus

[Term]
id: MONDO:0001736
name: neonatal infective mastitis
xref: DOID:13520 {source="MONDO:equivalentTo"}
xref: ICD10CM:P39.0 {source="MONDO:equivalentTo", source="DOID:13520"}
xref: ICD9:771.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13520"}
xref: MEDGEN:510679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:3468005 {source="MONDO:equivalentTo", source="DOID:13520"}
xref: UMLS:C0158948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510679"}
is_a: MONDO:0006849 {source="DOID:13520"} ! mastitis

[Term]
id: MONDO:0001737
name: tetanus neonatorum
def: "A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neonatal tetanus" EXACT [DOID:13521]
xref: DOID:13521 {source="MONDO:equivalentTo"}
xref: ICD10CM:A33 {source="MONDO:equivalentTo", source="DOID:13521"}
xref: ICD9:771.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13521"}
xref: MEDGEN:575516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116814 {source="MONDO:equivalentTo", source="DOID:13521"}
xref: SCTID:206338004 {source="DOID:13521"}
xref: SCTID:206339007 {source="DOID:13521"}
xref: SCTID:43424001 {source="MONDO:equivalentTo", source="DOID:13521"}
xref: UMLS:C0343312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575516"}
is_a: MONDO:0005526 {source="DOID:13521", source="NCIT:C116814"} ! tetanus

[Term]
id: MONDO:0001738
name: obsolete osteopetrosis
is_obsolete: true
replaced_by: MONDO:0017198

[Term]
id: MONDO:0001739
name: purulent labyrinthitis
def: "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." [DOID:13534, http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh]
synonym: "acute suppurative labyrinthitis" RELATED [DOID:13534]
synonym: "bacterial labyrinthitis" EXACT [DOID:13534]
synonym: "suppurative labyrinthitis" EXACT [DOID:13534, ICD9CM:386.33]
xref: DOID:13534 {source="MONDO:equivalentTo"}
xref: ICD9:386.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13534"}
xref: MEDGEN:509995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:24817009 {source="MONDO:equivalentTo", source="DOID:13534"}
xref: UMLS:C0155506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509995"}
is_a: MONDO:0002008 {source="DOID:13534", source="DOID:13534/inferred"} ! labyrinthitis

[Term]
id: MONDO:0001740
name: cornea squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the cornea." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cornea epidermoid carcinoma" EXACT [NCIT:C4552]
synonym: "cornea squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4552]
synonym: "corneal epidermoid carcinoma" EXACT [DOID:13538, NCIT:C4552]
synonym: "corneal squamous cell carcinoma" EXACT [NCIT:C4552]
synonym: "epidermoid carcinoma of cornea" EXACT [NCIT:C4552]
synonym: "epidermoid carcinoma of the cornea" EXACT [NCIT:C4552]
synonym: "squamous cell carcinoma of cornea" EXACT [DOID:13538, NCIT:C4552]
synonym: "squamous cell carcinoma of the cornea" EXACT [NCIT:C4552]
xref: DOID:13538 {source="MONDO:equivalentTo"}
xref: MEDGEN:91102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4552 {source="DOID:13538", source="MONDO:equivalentTo"}
xref: SCTID:255008003 {source="DOID:13538", source="MONDO:equivalentTo"}
xref: UMLS:C0346366 {source="MEDGEN:91102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C4552"} ! eye carcinoma
is_a: MONDO:0003802 {source="DOID:13538", source="MONDO:Redundant", source="NCIT:C4552"} ! cornea cancer
is_a: MONDO:0005096 {source="MONDO:Redundant", source="NCIT:C4552"} ! squamous cell carcinoma
is_a: MONDO:0010150 {source="MONDO:Redundant"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0001741
name: hyperparathyroidism
def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes." [NCIT:C48259]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperparathyroidism" EXACT [NCIT:C48259]
xref: DOID:13543 {source="MONDO:equivalentTo"}
xref: EFO:0008506 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E21.3 {source="DOID:13543"}
xref: ICD9:252.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13543"}
xref: ICD9:252.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13543"}
xref: MEDGEN:6967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006961 {source="MONDO:equivalentTo", source="DOID:13543"}
xref: NANDO:2100123 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200343 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C48259 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:13543"}
xref: Orphanet:99879 {source="DOID:13543"}
xref: SCTID:154696001 {source="DOID:13543"}
xref: SCTID:190451000 {source="DOID:13543"}
xref: SCTID:66999008 {source="MONDO:equivalentTo", source="DOID:13543"}
xref: UMLS:C0020502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6967"}
is_a: MONDO:0001223 {source="DOID:13543", source="EFO:0008506", source="MESH:D006961", source="NCIT:C48259"} ! parathyroid gland disorder
is_a: MONDO:0005151 {source="DOID:13543/inferred", source="MESH:D006961/inferred", source="MONDO:Redundant", source="NCIT:C48259"} ! endocrine system disorder
relationship: disease_has_major_feature HP:0000843 ! Hyperparathyroidism

[Term]
id: MONDO:0001742
name: interval angle-closure glaucoma
synonym: "angle-closure glaucoma, subacute" EXACT [DOID:13549]
synonym: "intermittent angle-closure glaucoma" EXACT [DOID:13549, ICD9CM:365.21]
synonym: "prodromal angle closure glaucoma" EXACT [DOID:13549]
xref: DOID:13549 {source="MONDO:equivalentTo"}
xref: ICD10CM:H40.23 {source="DOID:13549"}
xref: ICD9:365.21 {source="DOID:13549", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:65460003 {source="DOID:13549", source="MONDO:equivalentTo"}
xref: UMLS:C0154945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509734"}
is_a: MONDO:0001868 {source="DOID:13549"} ! primary angle-closure glaucoma

[Term]
id: MONDO:0001743
name: paranasal sinus lymphoma
def: "A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type." [NCIT:C6068]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "accessory sinus lymphoma" EXACT [NCIT:C6068]
synonym: "lymphoma of accessory sinus" EXACT [DOID:1355, NCIT:C6068]
synonym: "lymphoma of paranasal sinus" EXACT [DOID:1355]
synonym: "lymphoma of the accessory sinus" EXACT [NCIT:C6068]
synonym: "lymphoma of the paranasal sinus" EXACT [NCIT:C6068]
synonym: "paranasal sinus lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary paranasal sinus lymphoma" EXACT [NCIT:C6068]
xref: DOID:1355 {source="MONDO:equivalentTo"}
xref: MEDGEN:277498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6068 {source="DOID:1355", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335339 {source="MONDO:equivalentTo", source="MEDGEN:277498", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="DOID:1355", source="MONDO:Redundant", source="NCIT:C6068/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus
relationship: excluded_subClassOf MONDO:0000380 {source="DOID:1355", source="https://orcid.org/0000-0001-5208-3432"} ! paranasal sinus carcinoma

[Term]
id: MONDO:0001744
name: angle-closure glaucoma
def: "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." [NCIT:C34639]
subset: otar {source="MONDO:OTAR"}
synonym: "ACG - angle-closure glaucoma" EXACT [DOID:13550]
synonym: "angle closure glaucoma" EXACT [DOID:13550, MTH:NOCODE, NCIT:C34639]
synonym: "closed angle glaucoma" RELATED EXCLUDE [DOID:13550]
synonym: "Narrow cleft glaucoma" EXACT [DOID:13550]
synonym: "primary open-angle glaucoma with narrow angles" EXACT [DOID:13550]
xref: DOID:13550 {source="MONDO:equivalentTo"}
xref: MEDGEN:6610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015812 {source="MONDO:equivalentTo", source="DOID:13550"}
xref: NCIT:C34639 {source="DOID:13550"}
xref: SCTID:193544008 {source="DOID:13550"}
xref: SCTID:270882001 {source="DOID:13550"}
xref: SCTID:33647009 {source="DOID:13550"}
xref: SCTID:392291006 {source="MONDO:equivalentTo", source="DOID:13550"}
xref: UMLS:C0017605 {source="MEDGEN:6610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005041 {source="DOID:13550", source="MESH:D015812"} ! glaucoma

[Term]
id: MONDO:0001745
name: subserous uterine fibroid
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "subserous leiomyoma of uterus" EXACT [DOID:13560, ICD9CM:218.2]
xref: DOID:13560 {source="MONDO:equivalentTo"}
xref: ICD10CM:D25.2 {source="DOID:13560"}
xref: ICD9:218.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13560"}
xref: MEDGEN:509503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95280005 {source="MONDO:equivalentTo", source="DOID:13560"}
xref: UMLS:C0153995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509503"}
is_a: MONDO:0007886 {source="DOID:13560"} ! uterine corpus leiomyoma

[Term]
id: MONDO:0001746
name: optic disk drusen
def: "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" [MESH:D015594]
synonym: "drusen of optic disc" EXACT OMO:0003005 []
synonym: "drusen of optic disk" EXACT [DOID:13561, ICD9CM:377.21]
synonym: "optic nerve head drusen" EXACT [DOID:13561]
xref: DOID:13561 {source="MONDO:equivalentTo"}
xref: ICD10CM:H47.32 {source="DOID:13561"}
xref: ICD9:377.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13561"}
xref: MEDGEN:14495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015594 {source="MONDO:equivalentTo", source="DOID:13561"}
xref: SCTID:33629003 {source="MONDO:equivalentTo", source="DOID:13561"}
xref: UMLS:C0029128 {source="MONDO:equivalentTo", source="MEDGEN:14495", source="MONDO:MEDGEN"}
is_a: MONDO:0002135 {source="DOID:13561", source="MESH:D015594"} ! optic nerve disorder

[Term]
id: MONDO:0001747
name: tibial collateral ligament bursitis
xref: DOID:13566 {source="MONDO:equivalentTo"}
xref: ICD9:726.62 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13566"}
xref: MEDGEN:510511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:202869006 {source="DOID:13566"}
xref: SCTID:44245003 {source="MONDO:equivalentTo", source="DOID:13566"}
xref: UMLS:C0158315 {source="MONDO:equivalentTo", source="MEDGEN:510511", source="MONDO:MEDGEN"}
is_a: MONDO:0002183 {source="DOID:13566"} ! enthesopathy

[Term]
id: MONDO:0001748
name: maxillary sinus carcinoma
def: "A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma." [NCIT:C9332]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of maxillary sinus" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of maxillary sinus" EXACT [MONDO:patterns/carcinoma]
synonym: "malignant maxillary sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3540]
synonym: "malignant maxillary sinus tumor" EXACT [NCIT:C3540]
synonym: "malignant maxillary sinus tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of antrum" EXACT [DOID:1357]
synonym: "malignant neoplasm of maxillary sinus" EXACT [MONDO:patterns/cancer, NCIT:C3540]
synonym: "malignant neoplasm of the maxillary sinus" EXACT [NCIT:C3540]
synonym: "malignant tumor of maxillary sinus" EXACT [NCIT:C3540]
synonym: "malignant tumor of the maxillary sinus" EXACT [DOID:1357, NCIT:C3540]
synonym: "malignant tumour of maxillary sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the maxillary sinus" EXACT OMO:0003005 []
synonym: "maxillary sinus cancer" EXACT [MONDO:patterns/location, NCIT:C9332]
synonym: "maxillary sinus carcinoma" EXACT [NCIT:C9332]
xref: DOID:1357 {source="MONDO:equivalentTo"}
xref: ICD10CM:C31.0 {source="DOID:1357"}
xref: ICD9:160.2 {source="DOID:1357", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:196632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3540 {source="DOID:1357", source="MONDO:equivalentTo"}
xref: NCIT:C9332 {source="DOID:1357", source="MONDO:equivalentTo"}
xref: SCTID:363425008 {source="DOID:1357", source="MONDO:equivalentTo"}
xref: SCTID:93889000 {source="DOID:1357"}
xref: UMLS:C0740487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196632"}
is_a: MONDO:0000380 {source="DOID:1357", source="MONDO:Redundant", source="NCIT:C9332"} ! paranasal sinus carcinoma
is_a: MONDO:0006850 {source="MONDO:Redundant", source="NCIT:C3540", source="NCIT:C9332/inferred"} ! maxillary sinus neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0001749
name: cortical senile cataract
def: "A senile cataract that involves the lens cortex." [MONDO:design_pattern]
synonym: "cortical senile cataract" EXACT [DOID:13574]
synonym: "lens cortex senile cataract" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "senile cataract of lens cortex" EXACT [MONDO:design_pattern]
xref: DOID:13574 {source="MONDO:equivalentTo"}
xref: ICD9:366.15 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13574"}
xref: MEDGEN:509748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193588001 {source="DOID:13574"}
xref: SCTID:78875003 {source="MONDO:equivalentTo", source="DOID:13574"}
xref: UMLS:C0154980 {source="MEDGEN:509748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004847 {source="DOID:13574", source="MONDO:Redundant"} ! senile cataract
intersection_of: MONDO:0004847 ! senile cataract
intersection_of: disease_has_location UBERON:0000389 ! lens cortex

[Term]
id: MONDO:0001750
name: non-renal secondary hyperparathyroidism
xref: DOID:13575 {source="MONDO:equivalentTo"}
xref: ICD9:252.02 {source="DOID:13575"}
xref: MEDGEN:845321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3874997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:845321"}
is_a: MONDO:0006964 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! secondary hyperparathyroidism

[Term]
id: MONDO:0001751
name: cholestasis
def: "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bile occlusion" EXACT [DOID:13580]
synonym: "obstruction of bile duct" EXACT [DOID:13580, ICD9CM:576.2]
xref: DOID:13580 {source="MONDO:equivalentTo"}
xref: ICD10CM:K83.1 {source="DOID:13580"}
xref: ICD9:576.2 {source="MONDO:equivalentTo", source="DOID:13580", source="MONDO:i2s"}
xref: MEDGEN:925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002779 {source="MONDO:equivalentTo", source="DOID:13580"}
xref: NCIT:C83006 {source="MONDO:otherHierarchy", source="DOID:13580"}
xref: SCTID:197446008 {source="DOID:13580"}
xref: SCTID:197447004 {source="DOID:13580"}
xref: SCTID:30144000 {source="MONDO:equivalentTo", source="DOID:13580"}
xref: SCTID:33688009 {source="DOID:13580"}
xref: UMLS:C0008370 {source="MEDGEN:925", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002887 {source="DOID:13580", source="MESH:D002779"} ! bile duct disorder

[Term]
id: MONDO:0001752
name: alveolar periostitis
def: "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" [MESH:D004368]
synonym: "alveolitis of jaw" EXACT [DOID:13585, ICD9CM:526.5]
synonym: "dry socket" EXACT [DOID:13585]
synonym: "dry tooth socket" EXACT [DOID:13585]
synonym: "extrinsic allergic alveolitis of jaw skeleton" EXACT [MONDO:design_pattern]
synonym: "jaw skeleton extrinsic allergic alveolitis" EXACT [MONDO:patterns/location]
xref: DOID:13585 {source="MONDO:equivalentTo"}
xref: ICD10CM:M27.3 {source="DOID:13585"}
xref: ICD9:526.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13585"}
xref: MEDGEN:3923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004368 {source="MONDO:equivalentTo", source="DOID:13585"}
xref: SCTID:12033006 {source="DOID:13585"}
xref: SCTID:196465007 {source="DOID:13585"}
xref: SCTID:196466008 {source="DOID:13585"}
xref: SCTID:196467004 {source="DOID:13585"}
xref: SCTID:251331003 {source="DOID:13585"}
xref: SCTID:61804006 {source="MONDO:equivalentTo", source="DOID:13585"}
xref: UMLS:C0013240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3923"}
is_a: MONDO:0004934 {source="DOID:13585"} ! periostitis
is_a: MONDO:0006858 {source="MESH:D004368", source="MONDO:Redundant"} ! mouth disorder
relationship: excluded_subClassOf MONDO:0004553 {source="DOID:13585", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete extrinsic allergic alveolitis

[Term]
id: MONDO:0001753
name: female infertility of uterine origin
synonym: "infertility, female, of uterine origin" EXACT [DOID:13589, ICD9CM:628.3]
xref: DOID:13589 {source="MONDO:equivalentTo"}
xref: ICD10CM:N97.2 {source="MONDO:equivalentTo", source="DOID:13589"}
xref: ICD9:628.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13589"}
xref: MEDGEN:510285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156063002 {source="DOID:13589"}
xref: SCTID:198458005 {source="DOID:13589"}
xref: SCTID:26899006 {source="MONDO:equivalentTo", source="DOID:13589"}
xref: UMLS:C0156416 {source="MEDGEN:510285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:13589"} ! uterine disorder
is_a: MONDO:0021124 {source="ICD10CM:N97.2", source="https://orcid.org/0000-0001-5208-3432"} ! female infertility

[Term]
id: MONDO:0001754
name: eclampsia
def: "A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures." [NCIT:P378]
synonym: "eclampsia in puerperium" EXACT [DOID:13593]
synonym: "eclampsia, postpartum" EXACT [DOID:13593, ICD9CM:642.64]
synonym: "postpartum eclampsia" EXACT [DOID:13593]
xref: DOID:13593 {source="MONDO:equivalentTo"}
xref: ICD10CM:O15 {source="MONDO:equivalentTo", source="DOID:13593"}
xref: ICD10CM:O15.9 {source="DOID:13593"}
xref: ICD9:642.64 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004461 {source="MONDO:equivalentTo", source="DOID:13593"}
xref: NCIT:C87167 {source="MONDO:equivalentTo", source="DOID:13593"}
xref: SCTID:156111007 {source="DOID:13593"}
xref: SCTID:15938005 {source="DOID:13593"}
xref: SCTID:198988006 {source="DOID:13593"}
xref: SCTID:198989003 {source="DOID:13593"}
xref: SCTID:198996001 {source="DOID:13593"}
xref: SCTID:303063000 {source="MONDO:equivalentTo"}
xref: UMLS:C0013537 {source="MEDGEN:4443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0045048 {source="NCIT:C87167"} ! toxemia of pregnancy
relationship: excluded_subClassOf MONDO:0005081 {source="DOID:13593", source="https://orcid.org/0000-0001-5208-3432"} ! preeclampsia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6316/eclampsia" xsd:anyURI {source="GARD:0006316"}

[Term]
id: MONDO:0001755
name: obsolete vaginal carcinosarcoma
is_obsolete: true
replaced_by: MONDO:0006488

[Term]
id: MONDO:0001756
name: frontal sinus cancer
def: "A malignant neoplasm involving the frontal sinus." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of frontal sinus" EXACT [MONDO:patterns/cancer]
synonym: "frontal sinus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant frontal sinus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant frontal sinus tumor" EXACT [NCIT:C3542]
synonym: "malignant frontal sinus tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of frontal sinus" EXACT [DOID:1360, ICD9CM:160.4, MONDO:patterns/cancer, MTH:U001261]
synonym: "malignant neoplasm of the frontal sinus" EXACT [NCIT:C3542]
synonym: "malignant tumor of frontal sinus" EXACT [NCIT:C3542]
synonym: "malignant tumor of the frontal sinus" EXACT [DOID:1360, NCIT:C3542]
synonym: "malignant tumour of frontal sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the frontal sinus" EXACT OMO:0003005 []
xref: DOID:1360 {source="MONDO:equivalentTo"}
xref: ICD10CM:C31.2 {source="MONDO:equivalentTo", source="DOID:1360"}
xref: ICD9:160.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1360"}
xref: MEDGEN:57786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3542 {source="MONDO:equivalentTo", source="DOID:1360"}
xref: SCTID:363427000 {source="MONDO:equivalentTo", source="DOID:1360"}
xref: SCTID:93808006 {source="DOID:1360"}
xref: UMLS:C0153478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57786"}
is_a: MONDO:0000380 {source="DOID:1360", source="MONDO:Entailed"} ! paranasal sinus carcinoma
is_a: MONDO:0001757 {source="MONDO:Redundant", source="NCIT:C3542"} ! frontal sinus neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001760 ! frontal sinus

[Term]
id: MONDO:0001757
name: frontal sinus neoplasm
alt_id: MONDO:0021214
def: "A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "frontal sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "frontal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4419]
synonym: "frontal sinus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of frontal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4419]
synonym: "neoplasm of the frontal sinus" EXACT [NCIT:C4419]
synonym: "tumor of frontal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4419]
synonym: "tumor of the frontal sinus" EXACT [DOID:1361, NCIT:C4419]
synonym: "tumour of frontal sinus" EXACT OMO:0003005 []
synonym: "tumour of the frontal sinus" EXACT OMO:0003005 []
xref: DOID:1361 {source="MONDO:equivalentTo"}
xref: MEDGEN:91051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4419 {source="DOID:1361", source="MONDO:equivalentTo"}
xref: SCTID:126678005 {source="DOID:1361", source="MONDO:equivalentTo"}
xref: UMLS:C0345672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91051"}
is_a: MONDO:0005289 {source="DOID:1361", source="MONDO:Redundant", source="NCIT:C4419"} ! paranasal sinus neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001760 ! frontal sinus

[Term]
id: MONDO:0001758
name: paranasal sinus sarcoma
def: "A malignant soft tissue neoplasm that arises from the paranasal sinus." [NCIT:C6849]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "accessory sinus sarcoma" EXACT [NCIT:C6849]
synonym: "paranasal sinus sarcoma" EXACT [MONDO:patterns/location, NCIT:C6849]
synonym: "sarcoma of accessory sinus" EXACT [DOID:1362, NCIT:C6849]
synonym: "sarcoma of paranasal sinus" EXACT [MONDO:patterns/sarcoma, NCIT:C6849]
synonym: "sarcoma of the accessory sinus" EXACT [NCIT:C6849]
synonym: "sarcoma of the paranasal sinus" EXACT [NCIT:C6849]
xref: DOID:1362 {source="MONDO:equivalentTo"}
xref: MEDGEN:233842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6849 {source="DOID:1362", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233842"}
is_a: MONDO:0000380 {source="DOID:1362", source="MONDO:Entailed"} ! paranasal sinus carcinoma
is_a: MONDO:0005089 {source="DOID:1362", source="MONDO:Redundant", source="NCIT:C6849/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C6849"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus

[Term]
id: MONDO:0001759
name: obsolete patent foramen ovale
is_obsolete: true
replaced_by: MONDO:0020439

[Term]
id: MONDO:0001760
name: photokeratitis
def: "Injury to the cornea secondary to ultraviolet light." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ultraviolet keratitis" EXACT [NCIT:C118750]
xref: DOID:13626 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.13 {source="DOID:13626"}
xref: ICD9:370.24 {source="DOID:13626", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118750 {source="DOID:13626", source="MONDO:equivalentTo"}
xref: SCTID:1714005 {source="DOID:13626", source="MONDO:equivalentTo"}
xref: SCTID:193770007 {source="DOID:13626"}
xref: UMLS:C0155078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509774"}
is_a: MONDO:0003085 {source="DOID:13626", source="MONDO:Redundant", source="NCIT:C118750"} ! keratitis
intersection_of: MONDO:0003085 ! keratitis
intersection_of: realized_in_response_to ECTO:0000006 ! exposure to ultraviolet radiation

[Term]
id: MONDO:0001761
name: favism
def: "A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis." [NCIT:P378]
subset: inferred_rare
subset: rare
xref: DOID:13628 {source="MONDO:equivalentTo"}
xref: ICD10CM:D55.0 {source="DOID:13628"}
xref: MEDGEN:4667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005236 {source="DOID:13628", source="MONDO:equivalentTo"}
xref: NCIT:C34607 {source="DOID:13628", source="MONDO:equivalentTo"}
xref: SCTID:154801000 {source="DOID:13628"}
xref: SCTID:191172001 {source="DOID:13628", source="MONDO:equivalentTo"}
xref: SCTID:267558001 {source="DOID:13628"}
xref: SCTID:76500009 {source="DOID:13628"}
xref: UMLS:C0015702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4667"}
is_a: MONDO:0005775 {source="DOID:13628", source="MESH:D005236"} ! G6PD deficiency

[Term]
id: MONDO:0001762
name: dentine erosion
def: "A tooth erosion, non-bacterial that involves the dentine." [MONDO:design_pattern]
synonym: "dentine tooth erosion, non-bacterial" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "tooth erosion, non-bacterial of dentine" EXACT [MONDO:design_pattern]
xref: DOID:13629 {source="MONDO:equivalentTo"}
xref: ICD9:521.32 {source="DOID:13629"}
xref: MEDGEN:1843465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1456162 {source="MONDO:equivalentTo", source="MEDGEN:1843465", source="MONDO:MEDGEN"}
is_a: MONDO:0002325 {source="DOID:13629", source="MONDO:Redundant"} ! tooth erosion, non-bacterial
intersection_of: MONDO:0002325 ! tooth erosion, non-bacterial
intersection_of: disease_has_location UBERON:0001751 ! dentine

[Term]
id: MONDO:0001763
name: ethmoid sinus cancer
def: "A malignant neoplasm involving the ethmoid sinus." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of ethmoid sinus" EXACT [MONDO:patterns/cancer]
synonym: "ethmoid sinus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant ethmoid sinus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant ethmoid sinus tumor" EXACT [NCIT:C3541]
synonym: "malignant ethmoid sinus tumour" EXACT OMO:0003005 []
synonym: "malignant ethmoidal sinus neoplasm" EXACT [NCIT:C3541]
synonym: "malignant ethmoidal sinus tumor" EXACT [NCIT:C3541]
synonym: "malignant ethmoidal sinus tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of ethmoid sinus" EXACT [MONDO:patterns/cancer, NCIT:C3541]
synonym: "malignant neoplasm of ethmoidal sinus" EXACT [DOID:1363, ICD9CM:160.3]
synonym: "malignant neoplasm of the ethmoid sinus" EXACT [NCIT:C3541]
synonym: "malignant neoplasm of the ethmoidal sinus" EXACT [NCIT:C3541]
synonym: "malignant tumor of ethmoid sinus" EXACT [NCIT:C3541]
synonym: "malignant tumor of ethmoidal sinus" EXACT [DOID:1363, NCIT:C3541]
synonym: "malignant tumor of the ethmoid sinus" EXACT [NCIT:C3541]
synonym: "malignant tumor of the ethmoidal sinus" EXACT [NCIT:C3541]
synonym: "malignant tumour of ethmoid sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of ethmoidal sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the ethmoid sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the ethmoidal sinus" EXACT OMO:0003005 []
xref: DOID:1363 {source="MONDO:equivalentTo"}
xref: ICD10CM:C31.1 {source="DOID:1363", source="MONDO:equivalentTo"}
xref: ICD9:160.3 {source="DOID:1363", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3541 {source="DOID:1363", source="MONDO:equivalentTo"}
xref: SCTID:363426009 {source="DOID:1363", source="MONDO:equivalentTo"}
xref: SCTID:93787005 {source="DOID:1363"}
xref: UMLS:C0153477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102272"}
is_a: MONDO:0000380 {source="DOID:1363", source="MONDO:Entailed"} ! paranasal sinus carcinoma
is_a: MONDO:0001764 {source="MONDO:Redundant", source="NCIT:C3541"} ! ethmoidal sinus neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus

[Term]
id: MONDO:0001764
name: ethmoidal sinus neoplasm
alt_id: MONDO:0021215
def: "A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C4416]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ethmoid sinus neoplasm" EXACT [NCIT:C4416]
synonym: "ethmoid sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ethmoid sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4416]
synonym: "ethmoid sinus tumour" EXACT OMO:0003005 []
synonym: "ethmoidal sinus neoplasm" EXACT [NCIT:C4416]
synonym: "ethmoidal sinus tumor" EXACT [NCIT:C4416]
synonym: "ethmoidal sinus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416]
synonym: "neoplasm of ethmoidal sinus" EXACT [NCIT:C4416]
synonym: "neoplasm of the ethmoid sinus" EXACT [NCIT:C4416]
synonym: "neoplasm of the ethmoidal sinus" EXACT [NCIT:C4416]
synonym: "tumor of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416]
synonym: "tumor of ethmoidal sinus" EXACT [DOID:1364, NCIT:C4416]
synonym: "tumor of the ethmoid sinus" EXACT [NCIT:C4416]
synonym: "tumor of the ethmoidal sinus" EXACT [NCIT:C4416]
synonym: "tumour of ethmoid sinus" EXACT OMO:0003005 []
synonym: "tumour of ethmoidal sinus" EXACT OMO:0003005 []
synonym: "tumour of the ethmoid sinus" EXACT OMO:0003005 []
synonym: "tumour of the ethmoidal sinus" EXACT OMO:0003005 []
xref: DOID:1364 {source="MONDO:equivalentTo"}
xref: MEDGEN:83386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4416 {source="DOID:1364", source="MONDO:equivalentTo"}
xref: SCTID:126677000 {source="DOID:1364", source="MONDO:equivalentTo"}
xref: UMLS:C0345668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83386"}
is_a: MONDO:0005289 {source="DOID:1364", source="MONDO:Redundant", source="NCIT:C4416"} ! paranasal sinus neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus

[Term]
id: MONDO:0001765
name: polyneuropathy in collagen vascular disease
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:13649 {source="MONDO:equivalentTo"}
xref: ICD9:357.1 {source="DOID:13649", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:357.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193177003 {source="DOID:13649", source="MONDO:equivalentTo"}
xref: SCTID:193181003 {source="DOID:13649"}
xref: UMLS:C0154759 {source="MEDGEN:509648", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001824 {source="DOID:13649"} ! polyneuropathy

[Term]
id: MONDO:0001766
name: eversion of lacrimal punctum
xref: DOID:13651 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.52 {source="DOID:13651"}
xref: ICD9:375.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13651"}
xref: MEDGEN:509868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28244003 {source="MONDO:equivalentTo", source="DOID:13651"}
xref: UMLS:C0155243 {source="MEDGEN:509868", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001854 {source="DOID:13651"} ! lacrimal apparatus disorder

[Term]
id: MONDO:0001767
name: stenosis of lacrimal punctum
xref: DOID:13653 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.56 {source="DOID:13653"}
xref: ICD9:375.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13653"}
xref: MEDGEN:509869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:74783009 {source="MONDO:equivalentTo", source="DOID:13653"}
xref: UMLS:C0155244 {source="MEDGEN:509869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001854 {source="DOID:13653", source="MONDO:Redundant"} ! lacrimal apparatus disorder
is_a: MONDO:0003382 {source="DOID:13653"} ! eyelid disorder
relationship: disease_has_location UBERON:0010284 ! lacrimal punctum

[Term]
id: MONDO:0001768
name: stenosis of lacrimal passage
synonym: "stenosis of lacrimal canaliculi" EXACT [DOID:13654, ICD9CM:375.53]
xref: DOID:13654 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.54 {source="DOID:13654"}
xref: ICD10CM:H04.549 {source="DOID:13654"}
xref: ICD9:375.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13654"}
xref: MEDGEN:509870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193992001 {source="DOID:13654"}
xref: SCTID:81345003 {source="MONDO:equivalentTo", source="DOID:13654"}
xref: UMLS:C0155245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509870"}
is_a: MONDO:0001854 {source="DOID:13654", source="MONDO:Redundant"} ! lacrimal apparatus disorder
is_a: MONDO:0003382 {source="DOID:13654"} ! eyelid disorder
relationship: disease_has_location UBERON:0001770 ! lacrimal canaliculus

[Term]
id: MONDO:0001769
name: acquired tear duct stenosis
synonym: "acquired nasolacrimal duct stenosis" EXACT [DOID:13655]
synonym: "acquired stenosis of nasolacrimal duct" EXACT [DOID:13655]
synonym: "stenosis of nasolacrimal duct, acquired" EXACT [DOID:13655, ICD9CM:375.56]
synonym: "tear duct - acquired stenosis" EXACT [DOID:13655]
xref: DOID:13655 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.55 {source="DOID:13655"}
xref: ICD9:375.56 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13655"}
xref: MEDGEN:509872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155184002 {source="DOID:13655"}
xref: SCTID:193995004 {source="MONDO:equivalentTo", source="DOID:13655"}
xref: SCTID:267739007 {source="DOID:13655"}
xref: SCTID:90056003 {source="DOID:13655"}
xref: UMLS:C0155248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509872"}
is_a: MONDO:0001854 {source="DOID:13655"} ! lacrimal apparatus disorder
relationship: disease_has_location UBERON:0002392 ! nasolacrimal duct

[Term]
id: MONDO:0001770
name: gastrin secretion abnormality
xref: DOID:13656 {source="MONDO:equivalentTo"}
xref: ICD9:251.5 {source="DOID:13656", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:507382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190443003 {source="DOID:13656"}
xref: SCTID:190445005 {source="DOID:13656"}
xref: SCTID:47344007 {source="DOID:13656", source="MONDO:equivalentTo"}
xref: UMLS:C0000774 {source="MONDO:equivalentTo", source="MEDGEN:507382", source="MONDO:MEDGEN"}
is_a: MONDO:0001933 {source="DOID:13656"} ! endocrine pancreas disorder

[Term]
id: MONDO:0001771
name: infective urethral stricture
xref: DOID:13658 {source="MONDO:equivalentTo"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:598.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:598.01 {source="DOID:13658", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:588592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:80375002 {source="MONDO:equivalentTo"}
xref: UMLS:C0403696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:588592"}
is_a: MONDO:0002127 {source="DOID:13658"} ! urethral stricture
intersection_of: MONDO:0002127 ! urethral stricture
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease

[Term]
id: MONDO:0001772
name: ulcer of anus and rectum
synonym: "anal and rectal ulcer" EXACT [DOID:13662]
xref: DOID:13662 {source="MONDO:equivalentTo"}
xref: ICD10CM:K62.6 {source="MONDO:equivalentTo", source="DOID:13662"}
xref: ICD9:569.41 {source="DOID:13662"}
xref: MEDGEN:1843457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197227009 {source="DOID:13662"}
xref: UMLS:C0400832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843457"}
is_a: MONDO:0001593 {source="DOID:13662"} ! rectal disorder

[Term]
id: MONDO:0001773
name: post-vaccinal encephalitis
def: "An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)" [MESH:D004673]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "encephalitis following immunisation procedures" EXACT OMO:0003005 []
synonym: "encephalitis following immunization procedures" EXACT [DOID:13664, ICD9CM:323.5]
synonym: "postvaccinal encephalomyelitis" EXACT [DOID:13664]
xref: DOID:13664 {source="MONDO:equivalentTo"}
xref: ICD10CM:G04.02 {source="DOID:13664"}
xref: ICD9:323.51 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:152946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004673 {source="MONDO:relatedTo", source="DOID:13664"}
xref: SCTID:31367003 {source="MONDO:equivalentTo", source="DOID:13664"}
xref: UMLS:C0751101 {source="MEDGEN:152946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019956 {source="DOID:13664"} ! encephalitis

[Term]
id: MONDO:0001774
name: posterior scleritis
xref: DOID:13676 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.03 {source="DOID:13676"}
xref: ICD9:379.07 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13676"}
xref: MEDGEN:509932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194144007 {source="DOID:13676"}
xref: SCTID:267660007 {source="MONDO:equivalentTo", source="DOID:13676"}
xref: SCTID:49429000 {source="DOID:13676"}
xref: UMLS:C0155357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509932"}
is_a: MONDO:0001718 {source="DOID:13676"} ! scleritis

[Term]
id: MONDO:0001775
name: chronic duodenal ileus
xref: DOID:13687 {source="MONDO:equivalentTo"}
xref: ICD10CM:K31.5 {source="DOID:13687"}
xref: ICD9:537.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13687"}
xref: MEDGEN:510177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:52232007 {source="MONDO:equivalentTo", source="DOID:13687"}
xref: UMLS:C0156087 {source="MEDGEN:510177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002688 {source="DOID:13687"} ! duodenal obstruction

[Term]
id: MONDO:0001776
name: prostate calculus
def: "A concretion in the prostate." [NCIT:P378]
synonym: "calculus of prostate" EXACT [DOID:13689, ICD9CM:602.0]
synonym: "lower urinary tract calculus of prostate gland" EXACT [MONDO:design_pattern]
synonym: "prostate gland lower urinary tract calculus" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "prostatic lithiasis" EXACT [DOID:13689]
synonym: "prostatic stone" EXACT [DOID:13689]
synonym: "Stone of prostate" EXACT [DOID:13689, NCIT:C26936]
xref: DOID:13689 {source="MONDO:equivalentTo"}
xref: ICD10CM:N42.0 {source="DOID:13689", source="MONDO:equivalentTo"}
xref: ICD9:602.0 {source="DOID:13689", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26936 {source="DOID:13689", source="MONDO:otherHierarchy"}
xref: SCTID:155934005 {source="DOID:13689"}
xref: SCTID:85324003 {source="DOID:13689", source="MONDO:equivalentTo"}
xref: SCTID:95592006 {source="DOID:13689"}
xref: UMLS:C0149525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57431"}
is_a: MONDO:0004828 {source="DOID:13689", source="MONDO:Redundant"} ! lower urinary tract calculus
intersection_of: MONDO:0004828 ! lower urinary tract calculus
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0001777
name: acute gonococcal cystitis
def: "Acute form of gonococcal cystitis." [MONDO:patterns/acute]
synonym: "acute gonorrhea of bladder" EXACT [DOID:13690]
synonym: "acute gonorrhoea of bladder" EXACT OMO:0003005 []
synonym: "gonococcal cystitis" RELATED EXCLUDE [DOID:13690]
synonym: "gonococcal cystitis (acute)" EXACT [DOID:13690, ICD9CM:098.11]
synonym: "gonococcal cystitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:13690 {source="MONDO:equivalentTo"}
xref: ICD9:098.11 {source="MONDO:equivalentTo", source="DOID:13690", source="MONDO:i2s"}
xref: MEDGEN:509193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:24868007 {source="MONDO:equivalentTo", source="DOID:13690"}
xref: UMLS:C0153191 {source="MEDGEN:509193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001650 {source="DOID:13690", source="MONDO:Redundant"} ! acute cystitis
is_a: MONDO:0021160 {source="MONDO:Redundant"} ! gonococcal cystitis
intersection_of: MONDO:0021160 ! gonococcal cystitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001778
name: dermoid cyst of skin
def: "A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cutaneous dermoid cyst" EXACT [NCIT:C4632]
synonym: "cystic skin teratoma" EXACT [NCIT:C4632]
synonym: "dermoid cyst of skin" EXACT [DOID:13691, NCIT:C4632]
synonym: "dermoid cyst of skin (finding)" EXACT [DOID:13691]
synonym: "dermoid cyst of the skin" EXACT [NCIT:C4632]
synonym: "skin dermoid" EXACT [DOID:13691, NCIT:C4632]
synonym: "skin dermoid cyst" EXACT [NCIT:C4632]
synonym: "subcutaneous dermoid cyst" EXACT [NCIT:C4632]
synonym: "zone of skin dermoid cyst" EXACT [MONDO:patterns/location]
xref: DOID:13691 {source="MONDO:equivalentTo"}
xref: MEDGEN:91148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4632 {source="DOID:13691", source="MONDO:equivalentTo"}
xref: SCTID:154630005 {source="DOID:13691"}
xref: SCTID:201325006 {source="DOID:13691"}
xref: SCTID:276729007 {source="DOID:13691", source="MONDO:equivalentTo"}
xref: UMLS:C0349502 {source="MONDO:equivalentTo", source="MEDGEN:91148", source="MONDO:MEDGEN"}
is_a: MONDO:0002378 {source="DOID:13691", source="MONDO:Redundant", source="NCIT:C4632"} ! dermoid cyst
intersection_of: MONDO:0002378 ! dermoid cyst
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
relationship: excluded_subClassOf MONDO:0002898 {source="DOID:13691", source="https://orcid.org/0000-0001-5208-3432"} ! skin cancer

[Term]
id: MONDO:0001779
name: vaginal squamous papilloma
def: "A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus." [NCIT:C6374]
synonym: "squamous papilloma of the vagina" EXACT [NCIT:C6374]
synonym: "squamous papilloma of vagina" EXACT [DOID:137, NCIT:C6374]
synonym: "vagina squamous papilloma" EXACT [MONDO:patterns/location]
synonym: "vaginal squamous papilloma" EXACT [NCIT:C6374]
xref: DOID:137 {source="MONDO:equivalentTo"}
xref: MEDGEN:234983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6374 {source="DOID:137", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336943 {source="MONDO:equivalentTo", source="MEDGEN:234983", source="MONDO:MEDGEN"}
is_a: MONDO:0000647 {source="DOID:137", source="MONDO:Redundant", source="NCIT:C6374"} ! benign vaginal neoplasm
is_a: MONDO:0001806 {source="NCIT:C6374"} ! vaginal squamous tumor
is_a: MONDO:0001825 {source="MONDO:Redundant", source="NCIT:C6374"} ! squamous papilloma
intersection_of: MONDO:0001825 ! squamous papilloma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0001780
name: premature ejaculation
def: "A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "premature ejaculation" EXACT [MONDO:ambiguous]
synonym: "premature ejaculation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:13709 {source="MONDO:equivalentTo"}
xref: HP:0012876 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F52.4 {source="MONDO:equivalentTo", source="DOID:13709"}
xref: ICD9:302.75 {source="DOID:13709"}
xref: MEDGEN:452112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D061686 {source="MONDO:equivalentTo", source="DOID:13709"}
xref: NCIT:C94349 {source="MONDO:equivalentTo", source="DOID:13709"}
xref: SCTID:123302009 {source="DOID:13709"}
xref: SCTID:154905005 {source="DOID:13709"}
xref: SCTID:192468006 {source="DOID:13709"}
xref: SCTID:268762007 {source="DOID:13709"}
xref: SCTID:44001008 {source="DOID:13709"}
xref: UMLS:C0033038 {source="MONDO:equivalentTo", source="MEDGEN:452112", source="MONDO:MEDGEN"}
is_a: MONDO:0000595 {source="DOID:13709/inferred", source="NCIT:C94349"} ! sexual and gender identity disorders
relationship: disease_disrupts GO:0042713 ! sperm ejaculation
property_value: IAO:0000589 "premature ejaculation (disease)" xsd:string

[Term]
id: MONDO:0001781
name: uterine corpus adenomatoid tumor
def: "A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures." [NCIT:C27250]
synonym: "body of uterus adenomatoid tumor" EXACT [MONDO:patterns/location]
synonym: "body of uterus adenomatoid tumour" EXACT OMO:0003005 []
synonym: "uterine corpus adenomatoid tumor" EXACT [NCIT:C27250]
synonym: "uterine corpus localised epithelial mesothelioma" EXACT OMO:0003005 []
synonym: "uterine corpus localized epithelial mesothelioma" EXACT [DOID:1371, NCIT:C27250]
xref: DOID:1371 {source="MONDO:equivalentTo"}
xref: MEDGEN:234464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27250 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1371"}
xref: UMLS:C1336902 {source="MEDGEN:234464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000632 {source="DOID:1371", source="MONDO:Redundant", source="NCIT:C27250/inferred"} ! uterine benign neoplasm
is_a: MONDO:0002654 {source="DOID:1371/inferred", source="MONDO:Redundant", source="NCIT:C27250/inferred"} ! uterine disorder
is_a: MONDO:0004230 {source="DOID:1371", source="MONDO:Redundant", source="NCIT:C27250"} ! adenomatoid tumor
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C27250"} ! benign neoplasm of corpus uteri
intersection_of: MONDO:0004230 ! adenomatoid tumor
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0001782
name: mature cataract
def: "A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity." [https://medical-dictionary.thefreedictionary.com/mature+cataract]
comment: May be ceded to HPO. Note current classification may be incorrect
synonym: "total or mature cataract" EXACT [DOID:13717, ICD9CM:366.17]
synonym: "total, mature senile cataract" EXACT [DOID:13717]
xref: DOID:13717 {source="MONDO:equivalentTo"}
xref: ICD9:366.17 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:784053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193590000 {source="DOID:13717"}
xref: SCTID:849000 {source="MONDO:equivalentTo"}
xref: UMLS:C3665439 {source="MEDGEN:784053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:13717/inferred"} ! cataract
relationship: excluded_subClassOf MONDO:0004847 {source="DOID:13717", source="https://orcid.org/0000-0001-5208-3432"} ! senile cataract

[Term]
id: MONDO:0001783
name: endometrial stromal nodule
def: "A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." [NCIT:C4262]
xref: DOID:1373 {source="MONDO:equivalentTo"}
xref: ICDO:8930/0 {source="NCIT:C4262"}
xref: MEDGEN:90790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4262 {source="DOID:1373", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:189810002 {source="DOID:1373"}
xref: SCTID:70971005 {source="DOID:1373"}
xref: SCTID:721571001 {source="MONDO:equivalentTo"}
xref: UMLS:C0334485 {source="MEDGEN:90790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000632 {source="DOID:1373", source="MONDO:Redundant", source="NCIT:C4262/inferred"} ! uterine benign neoplasm
is_a: MONDO:0021525 {source="NCIT:C4262"} ! benign neoplasm of corpus uteri
is_a: MONDO:0044335 {source="NCIT:C4262"} ! benign soft tissue neoplasm

[Term]
id: MONDO:0001784
name: malignant renovascular hypertension
subset: otar {source="MONDO:OTAR"}
synonym: "malignant renal artery stenosis" EXACT []
synonym: "malignant renal hypertension" EXACT []
xref: DOID:13730 {source="MONDO:equivalentTo"}
xref: MEDGEN:538723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0264643 {source="MEDGEN:538723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000959 {source="DOID:13730"} ! malignant hypertensive renal disease
is_a: MONDO:0001785 {source="DOID:13730", source="MONDO:Redundant"} ! malignant secondary hypertension
intersection_of: MONDO:0001105 ! renal hypertension
intersection_of: MONDO:0006846 ! malignant hypertension

[Term]
id: MONDO:0001785
name: malignant secondary hypertension
subset: otar {source="MONDO:OTAR"}
xref: DOID:13731 {source="MONDO:equivalentTo"}
xref: ICD9:405.0 {source="DOID:13731"}
xref: ICD9:405.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:510039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194784007 {source="DOID:13731"}
xref: SCTID:49863005 {source="DOID:13731"}
xref: SCTID:89242004 {source="MONDO:equivalentTo", source="DOID:13731"}
xref: UMLS:C0155617 {source="MEDGEN:510039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001200 {source="DOID:13731", source="MONDO:Redundant"} ! secondary hypertension
is_a: MONDO:0006846 {source="DOID:13731", source="MONDO:Redundant"} ! malignant hypertension
intersection_of: MONDO:0001200 ! secondary hypertension
intersection_of: MONDO:0006846 ! malignant hypertension

[Term]
id: MONDO:0001786
name: uterine inflammatory disease
subset: otar {source="MONDO:OTAR"}
synonym: "inflammatory disease of the uterus" EXACT [DOID:13736]
xref: DOID:13736 {source="MONDO:equivalentTo"}
xref: EFO:0009572 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N71.9 {source="DOID:13736"}
xref: ICD9:615.9 {source="DOID:13736", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:541692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198191007 {source="DOID:13736"}
xref: SCTID:198197006 {source="DOID:13736"}
xref: SCTID:28783002 {source="DOID:13736", source="MONDO:equivalentTo"}
xref: UMLS:C0269047 {source="MEDGEN:541692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:13736"} ! uterine disorder

[Term]
id: MONDO:0001787
name: hepatic infarction
synonym: "infarct of liver" EXACT [DOID:13738]
xref: DOID:13738 {source="MONDO:equivalentTo"}
xref: ICD10CM:K76.3 {source="DOID:13738"}
xref: ICD9:573.4 {source="DOID:13738", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000081011 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: SCTID:17890003 {source="DOID:13738", source="MONDO:equivalentTo"}
xref: UMLS:C0151731 {source="MEDGEN:508812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002405 {source="DOID:13738"} ! hepatic vascular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0001788
name: nutmeg liver
synonym: "chronic passive congestion of liver" EXACT [DOID:13739, ICD9CM:573.0]
xref: DOID:13739 {source="MONDO:equivalentTo"}
xref: ICD10CM:K76.1 {source="DOID:13739"}
xref: ICD9:573.0 {source="MONDO:equivalentTo", source="DOID:13739", source="MONDO:i2s"}
xref: MEDGEN:510207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:34736002 {source="MONDO:equivalentTo", source="DOID:13739"}
xref: UMLS:C0156195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510207"}
is_a: MONDO:0002405 {source="DOID:13739"} ! hepatic vascular disorder

[Term]
id: MONDO:0001789
name: neurofibroma of spinal cord
def: "A neurofibroma that arises from the spinal cord." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neurofibroma of spinal cord" EXACT [NCIT:C5145]
synonym: "spinal cord neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5145]
xref: DOID:13742 {source="MONDO:equivalentTo"}
xref: MEDGEN:234804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5145 {source="MONDO:equivalentTo", source="DOID:13742"}
xref: UMLS:C1336047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234804"}
is_a: MONDO:0016755 {source="DOID:13742", source="MONDO:Redundant", source="NCIT:C5145"} ! neurofibroma
intersection_of: MONDO:0016755 ! neurofibroma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:13742", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer

[Term]
id: MONDO:0001790
name: spinal cord lipoma
def: "A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare." [NCIT:C4619]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:645276"}
subset: rare
synonym: "lipoma of spinal cord" EXACT [NCIT:C4619]
synonym: "spinal cord lipoma" EXACT [MONDO:patterns/location, NCIT:C4619]
xref: DOID:13743 {source="MONDO:equivalentTo"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200815 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4619 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:13743"}
xref: Orphanet:645276 {source="MONDO:equivalentTo"}
xref: SCTID:189017000 {source="MONDO:equivalentTo", source="DOID:13743"}
xref: UMLS:C0347446 {source="MEDGEN:91131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002545 {source="DOID:13743", source="MONDO:Redundant", source="NCIT:C4619/inferred"} ! spinal cord disorder
is_a: MONDO:0003844 {source="DOID:13743", source="MONDO:Redundant", source="NCIT:C4619"} ! central nervous system lipoma
is_a: MONDO:0021506 {source="MONDO:Redundant", source="NCIT:C4619"} ! benign neoplasm of spinal cord
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0001791
name: neonatal urinary tract infectious disease
synonym: "urinary tract infection of newborn" EXACT [DOID:1375, ICD9CM:771.82]
xref: DOID:1375 {source="MONDO:equivalentTo"}
xref: ICD10CM:P39.3 {source="DOID:1375"}
xref: ICD9:771.82 {source="DOID:1375"}
xref: MEDGEN:536451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:12301009 {source="DOID:1375", source="MONDO:equivalentTo"}
xref: UMLS:C0235815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536451"}
is_a: MONDO:0002118 {source="DOID:1375", source="MONDO:Redundant"} ! urinary system disorder
is_a: MONDO:0005247 {source="https://orcid.org/0000-0002-6601-2165"} ! bacterial urinary tract infection

[Term]
id: MONDO:0001792
name: epiphora due to insufficient drainage
xref: DOID:13756 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.22 {source="DOID:13756"}
xref: ICD9:375.22 {source="DOID:13756", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:85042000 {source="DOID:13756", source="MONDO:equivalentTo"}
xref: UMLS:C0155234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509862"}
is_a: MONDO:0001793 {source="DOID:13756"} ! excessive tearing

[Term]
id: MONDO:0001793
name: excessive tearing
def: "Profuse lacrimation." [NCIT:C50552]
synonym: "apparatus disease, lacrimal" RELATED [MESH:D007766]
synonym: "apparatus diseases, lacrimal" RELATED [MESH:D007766]
synonym: "disease, lacrimal apparatus" RELATED [MESH:D007766]
synonym: "diseases, lacrimal apparatus" RELATED [MESH:D007766]
synonym: "epiphora" EXACT [DOID:13757, ICD9CM:375.2]
synonym: "excessive tear production" EXACT [DOID:13757]
synonym: "lacrimal apparatus disease" RELATED [MESH:D007766]
synonym: "watering eye" EXACT [DOID:13757]
xref: DOID:13757 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.2 {source="DOID:13757"}
xref: ICD10CM:H04.20 {source="DOID:13757"}
xref: ICD9:375.2 {source="DOID:13757"}
xref: ICD9:375.20 {source="DOID:13757", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007766 {source="DOID:13757", source="MONDO:relatedTo"}
xref: NCIT:C50552 {source="DOID:13757", source="MONDO:otherHierarchy"}
xref: SCTID:155185001 {source="DOID:13757"}
xref: SCTID:193982009 {source="DOID:13757", source="MONDO:equivalentTo"}
xref: SCTID:193985006 {source="DOID:13757"}
xref: SCTID:267740009 {source="DOID:13757"}
xref: SCTID:418035005 {source="DOID:13757"}
xref: SCTID:49393005 {source="DOID:13757"}
xref: UMLS:C0152227 {source="MEDGEN:57518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001854 {source="DOID:13757"} ! lacrimal apparatus disorder

[Term]
id: MONDO:0001794
name: Pthirus pubis infestation
def: "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects." [NCIT:P378]
synonym: "crabs" EXACT [DOID:13760]
synonym: "infections, Pthirus pubis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "infestation by Phthirus pubis" EXACT [DOID:13760]
synonym: "pediculosis pubis" EXACT [DOID:13760, NCIT:C35777]
synonym: "Pediculus pubis" EXACT [DOID:13760]
synonym: "phthiriasis" EXACT [NCIT:C35777]
synonym: "phthiriasis pubis" EXACT [DOID:13760]
synonym: "Phthirus pubis" EXACT [DOID:13760]
synonym: "Phthirus pubis [pubic louse]" EXACT [DOID:13760, ICD9CM:132.2]
synonym: "Phthirus/pediculus pubis - pubic lice - crabs" EXACT [DOID:13760]
synonym: "Phthirus/pediculus pubis - pubic lice - crabs (& infestation)" EXACT [DOID:13760]
synonym: "Pthirus pubis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:13760 {source="MONDO:equivalentTo"}
xref: ICD10CM:B85.3 {source="MONDO:equivalentTo", source="DOID:13760"}
xref: ICD9:132.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13760"}
xref: MEDGEN:10616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35777 {source="MONDO:equivalentTo", source="DOID:13760"}
xref: SCTID:154420009 {source="DOID:13760"}
xref: SCTID:187210003 {source="DOID:13760"}
xref: SCTID:243683001 {source="DOID:13760"}
xref: SCTID:271545007 {source="DOID:13760"}
xref: SCTID:71011005 {source="MONDO:equivalentTo", source="DOID:13760"}
xref: UMLS:C0030759 {source="MEDGEN:10616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003472 {source="DOID:13760"} ! lice infestation
is_a: MONDO:0021201 {source="NCIT:C35777"} ! skin infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:121228 ! Pthirus pubis

[Term]
id: MONDO:0001795
name: plantar wart
def: "A wart in the plantar surface of the foot. It is caused by human papillomavirus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "plantar wart" EXACT [DOID:13775, MTH:587]
synonym: "verruca plantaris" EXACT [DOID:13775, NCIT:C26913]
xref: DOID:13775 {source="MONDO:equivalentTo"}
xref: EFO:1002023 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B07.0 {source="MONDO:equivalentTo", source="DOID:13775"}
xref: ICD9:078.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13775"}
xref: MEDGEN:53003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26913 {source="MONDO:equivalentTo", source="DOID:13775"}
xref: SCTID:154363006 {source="DOID:13775"}
xref: SCTID:63440008 {source="MONDO:equivalentTo", source="DOID:13775"}
xref: UMLS:C0042548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:53003"}
is_a: MONDO:0005108 {source="DOID:13775", source="EFO:1002023", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0024666 {source="NCIT:C26913"} ! benign epithelial skin neoplasm
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0008338 ! plantar part of pes
intersection_of: MONDO:0100332 NCBITaxon:173087 ! disease has primary infectious agent Human papillomavirus types

[Term]
id: MONDO:0001796
name: obsolete epidermodysplasia verruciformis
is_obsolete: true
replaced_by: MONDO:0009176

[Term]
id: MONDO:0001797
name: chancroid
def: "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery." [https://rarediseases.info.nih.gov/diseases/9522/chancroid]
subset: gard_rare {source="GARD:9522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Chancroids" RELATED [MESH:D002602]
synonym: "Ulcus molle, skin" EXACT [DOID:13778]
xref: DOID:13778 {source="MONDO:equivalentTo"}
xref: GARD:9522 {source="MONDO:GARD"}
xref: ICD10CM:A57 {source="DOID:13778", source="MONDO:equivalentTo"}
xref: ICD9:099.0 {source="DOID:13778", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002602 {source="DOID:13778", source="MONDO:equivalentTo"}
xref: SCTID:154391003 {source="DOID:13778"}
xref: SCTID:186945008 {source="DOID:13778"}
xref: SCTID:266143009 {source="DOID:13778", source="MONDO:equivalentTo"}
xref: SCTID:266213004 {source="DOID:13778"}
xref: SCTID:87429008 {source="DOID:13778"}
xref: UMLS:C0007947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:872"}
is_a: MONDO:0000314 {source="DOID:13778"} ! primary bacterial infectious disease
is_a: MONDO:0005323 {source="MESH:D002602", source="MONDO:Entailed", source="MONDO:Redundant"} ! bacterial sexually transmitted disease
is_a: MONDO:0006926 {source="MESH:D002602", source="MONDO:Redundant"} ! haemophilus infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:730 ! [Haemophilus] ducreyi
relationship: disease_has_infectious_agent NCBITaxon:730 {source="MONDO:Wikidata"} ! [Haemophilus] ducreyi
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9522/chancroid" xsd:anyURI {source="GARD:0009522"}

[Term]
id: MONDO:0001798
name: hypermobility syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "benign joint hypermobility" EXACT [DOID:13781]
xref: DOID:13781 {source="MONDO:equivalentTo"}
xref: ICD10CM:M35.7 {source="MONDO:equivalentTo", source="DOID:13781"}
xref: ICD9:728.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13781"}
xref: MEDGEN:508885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156723005 {source="DOID:13781"}
xref: SCTID:85551004 {source="MONDO:equivalentTo", source="DOID:13781"}
xref: UMLS:C0152093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508885"}
is_a: MONDO:0006816 {source="DOID:13781"} ! arthropathy

[Term]
id: MONDO:0001799
name: localized anterior staphyloma
synonym: "anterior staphyloma, localised" EXACT OMO:0003005 []
synonym: "anterior staphyloma, localized" EXACT [DOID:13787, ICD9CM:379.14]
xref: DOID:13787 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.82 {source="DOID:13787"}
xref: ICD9:379.14 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13787"}
xref: MEDGEN:509936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21946002 {source="MONDO:equivalentTo", source="DOID:13787"}
xref: UMLS:C0155362 {source="MEDGEN:509936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001269 ! scleral disorder

[Term]
id: MONDO:0001800
name: equatorial staphyloma
xref: DOID:13788 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.81 {source="DOID:13788"}
xref: ICD9:379.13 {source="DOID:13788"}
xref: MEDGEN:509935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:82146006 {source="DOID:13788", source="MONDO:equivalentTo"}
xref: UMLS:C0155361 {source="MEDGEN:509935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001269 ! scleral disorder

[Term]
id: MONDO:0001801
name: staphyloma posticum
xref: DOID:13789 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.83 {source="DOID:13789"}
xref: ICD9:379.12 {source="DOID:13789", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:87819007 {source="DOID:13789", source="MONDO:equivalentTo"}
xref: UMLS:C0155360 {source="MEDGEN:509934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001269 ! scleral disorder

[Term]
id: MONDO:0001802
name: acute tympanitis
synonym: "acute myringitis" EXACT [DOID:13790]
xref: DOID:13790 {source="MONDO:equivalentTo"}
xref: ICD10CM:H73.0 {source="DOID:13790"}
xref: ICD10CM:H73.00 {source="DOID:13790"}
xref: ICD10CM:H73.009 {source="DOID:13790"}
xref: ICD9:384.00 {source="DOID:13790", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194312004 {source="DOID:13790"}
xref: SCTID:194313009 {source="DOID:13790"}
xref: SCTID:297009 {source="DOID:13790", source="MONDO:equivalentTo"}
xref: UMLS:C0155460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509976"}
is_a: MONDO:0003648 {source="DOID:13790"} ! tympanic membrane disorder
is_a: MONDO:0024616 {source="https://orcid.org/0000-0001-5208-3432"} ! tympanitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001803
name: myringitis bullosa hemorrhagica
def: "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection." [DOID:13791, https://www.nlm.nih.gov/medlineplus/ency/article/001369.htm]
synonym: "bullous myringitis" EXACT [DOID:13791, ICD9CM:384.01]
xref: DOID:13791 {source="MONDO:equivalentTo"}
xref: ICD10CM:H73.01 {source="DOID:13791"}
xref: ICD9:384.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13791"}
xref: MEDGEN:509977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:33528003 {source="MONDO:equivalentTo", source="DOID:13791"}
xref: UMLS:C0155461 {source="MEDGEN:509977", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003648 {source="DOID:13791"} ! tympanic membrane disorder

[Term]
id: MONDO:0001804
name: anterior scleritis
xref: DOID:13794 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.01 {source="DOID:13794"}
xref: ICD9:379.03 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13794"}
xref: MEDGEN:509928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:63454000 {source="MONDO:equivalentTo", source="DOID:13794"}
xref: UMLS:C0155353 {source="MONDO:equivalentTo", source="MEDGEN:509928", source="MONDO:MEDGEN"}
is_a: MONDO:0001718 {source="DOID:13794"} ! scleritis

[Term]
id: MONDO:0001805
name: female breast central part cancer
synonym: "malignant neoplasm of central part of female breast" EXACT [DOID:13799]
synonym: "malignant neoplasm of central portion of female breast" EXACT [DOID:13799, ICD9CM:174.1]
xref: DOID:13799 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50.11 {source="DOID:13799"}
xref: ICD9:174.1 {source="DOID:13799", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188151006 {source="DOID:13799", source="MONDO:equivalentTo"}
xref: SCTID:93745008 {source="DOID:13799"}
xref: UMLS:C0153549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509323"}
is_a: MONDO:0004379 {source="DOID:13799"} ! female breast carcinoma

[Term]
id: MONDO:0001806
name: vaginal squamous tumor
def: "A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma." [NCIT:P378]
synonym: "vagina squamous cell neoplasm" EXACT [MONDO:patterns/location]
synonym: "vaginal squamous neoplasm" EXACT [NCIT:C40242]
synonym: "vaginal squamous tumor" EXACT [NCIT:C40242]
xref: DOID:138 {source="MONDO:equivalentTo"}
xref: MEDGEN:274381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40242 {source="DOID:138", source="MONDO:equivalentTo"}
xref: UMLS:C1519931 {source="MEDGEN:274381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40242"} ! squamous cell neoplasm
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C40242"} ! vaginal neoplasm
intersection_of: MONDO:0002532 ! squamous cell neoplasm
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0001807
name: obsolete familial combined hyperlipidemia
def: "OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." [MESH:D006950]
comment: Obsolete in Orphanet
synonym: "combined hyperlipidemia" RELATED [Orphanet:79211]
synonym: "combined hyperlipoproteinemia" EXACT [Orphanet:79211]
synonym: "familial combined hyperlipidemia (disorder) [ambiguous]" EXACT [DOID:13809]
synonym: "familial multiple lipoprotein-type hyperlipidemia" EXACT [DOID:13809]
synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT [DOID:13809]
synonym: "mixed hyperlipidaemia" EXACT [DOID:13809]
synonym: "mixed hyperlipidemia" EXACT [DOID:13809, ICD9CM:272.2, NCIT:C34821, Orphanet:79211]
synonym: "mixed hyperlipoproteinemia" EXACT [Orphanet:79211]
synonym: "type IIb hyperlipoproteinemia" NARROW [DOID:13809, NCIT:C34708]
xref: DOID:13809 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E78.2 {source="Orphanet:79211/specific", source="Orphanet:79211/e", source="Orphanet:79211"}
xref: ICD10CM:E78.4 {source="DOID:13809"}
xref: ICD9:272.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10027763 {source="Orphanet:79211/e", source="Orphanet:79211"}
xref: MESH:D006950 {source="MONDO:obsoleteEquivalent", source="DOID:13809"}
xref: Orphanet:79211 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:154742006 {source="DOID:13809"}
xref: SCTID:190780005 {source="DOID:13809"}
xref: SCTID:238040008 {source="MONDO:obsoleteEquivalent", source="DOID:13809"}
xref: SCTID:299465007 {source="DOID:13809"}
xref: SCTID:48190005 {source="DOID:13809"}
is_obsolete: true
consider: MONDO:0001336

[Term]
id: MONDO:0001808
name: chronic subinvolution of uterus
xref: DOID:13811 {source="MONDO:equivalentTo"}
xref: ICD9:621.1 {source="DOID:13811", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198315005 {source="DOID:13811", source="MONDO:equivalentTo"}
xref: SCTID:53518003 {source="DOID:13811"}
xref: UMLS:C0156370 {source="MEDGEN:510263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:13811"} ! uterine disorder

[Term]
id: MONDO:0001809
name: adhesions of uterus
synonym: "band of uterus" EXACT [DOID:13812]
synonym: "intrauterine adhesions" RELATED EXCLUDE [DOID:13812]
synonym: "intrauterine synechiae" RELATED [DOID:13812, ICD9CM:621.5]
xref: DOID:13812 {source="MONDO:equivalentTo"}
xref: ICD9:621.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:537073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:301789000 {source="DOID:13812"}
xref: SCTID:31107007 {source="DOID:13812"}
xref: SCTID:361115000 {source="DOID:13812", source="MONDO:equivalentTo"}
xref: SCTID:367435001 {source="DOID:13812"}
xref: UMLS:C0241593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:537073"}
is_a: MONDO:0002654 {source="DOID:13812"} ! uterine disorder

[Term]
id: MONDO:0001810
name: hypoglossal nerve disorder
def: "A disease involving the hypoglossal nerve." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of hypoglossal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of hypoglossal nerve" EXACT []
synonym: "disorder of 12th nerve" EXACT [DOID:13814]
synonym: "disorder of hypoglossal [12th] nerve" EXACT [DOID:13814, ICD9CM:352.5]
synonym: "disorder of hypoglossal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the XII nerve" EXACT [NCIT:C26954]
synonym: "disorder of XII nerve" EXACT [DOID:13814, NCIT:C26954]
synonym: "hypoglossal nerve disease" EXACT [MONDO:patterns/location]
synonym: "hypoglossal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "hypoglossal nerve disorder" EXACT [NCIT:C26954]
synonym: "twelfth nerve disorder" EXACT [NCIT:C26954]
xref: DOID:13814 {source="MONDO:equivalentTo"}
xref: ICD10CM:G52.3 {source="DOID:13814"}
xref: ICD9:352.5 {source="DOID:13814", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020437 {source="DOID:13814", source="MONDO:equivalentTo"}
xref: NCIT:C26954 {source="DOID:13814", source="MONDO:equivalentTo"}
xref: SCTID:24777009 {source="DOID:13814", source="MONDO:equivalentTo"}
xref: UMLS:C0152181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57513"}
is_a: MONDO:0003569 {source="DOID:13814/inferred", source="MESH:D020437", source="MONDO:Redundant", source="NCIT:C26954"} ! cranial nerve neuropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001650 ! hypoglossal nerve
relationship: excluded_subClassOf MONDO:0002639 {source="DOID:13814", source="https://orcid.org/0000-0001-5208-3432"} ! glossopharyngeal nerve disorder

[Term]
id: MONDO:0001811
name: tetanic cataract
def: "A cataract resulting from hypocalcemia." [NCIT:P378]
synonym: "hypocalcaemic cataract" EXACT [DOID:13822]
xref: DOID:13822 {source="MONDO:equivalentTo"}
xref: ICD9:366.42 {source="DOID:13822", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35068 {source="DOID:13822", source="MONDO:equivalentTo"}
xref: SCTID:193607003 {source="DOID:13822"}
xref: SCTID:68216000 {source="DOID:13822", source="MONDO:equivalentTo"}
xref: UMLS:C0039613 {source="MEDGEN:52678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:13822", source="NCIT:C35068"} ! cataract

[Term]
id: MONDO:0001812
name: parasitic eyelid infestation
synonym: "parasitic eyelid infestation" EXACT []
synonym: "parasitic infestation of eyelid" EXACT [DOID:13823, ICD9CM:373.6]
xref: DOID:13823 {source="MONDO:equivalentTo"}
xref: ICD9:373.6 {source="DOID:13823", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193922006 {source="DOID:13823", source="MONDO:equivalentTo"}
xref: UMLS:C0155183 {source="MEDGEN:509836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004785 {source="DOID:13823"} ! blepharitis
intersection_of: MONDO:0005135 ! parasitic infectious disease
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0001813
name: squamous blepharitis
xref: DOID:13825 {source="MONDO:equivalentTo"}
xref: ICD10CM:H01.02 {source="DOID:13825"}
xref: ICD9:373.02 {source="DOID:13825", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:58912008 {source="DOID:13825", source="MONDO:equivalentTo"}
xref: UMLS:C0155174 {source="MONDO:equivalentTo", source="MEDGEN:509829", source="MONDO:MEDGEN"}
is_a: MONDO:0004785 {source="DOID:13825"} ! blepharitis

[Term]
id: MONDO:0001814
name: obsolete patent ductus arteriosus
is_obsolete: true
replaced_by: MONDO:0011827

[Term]
id: MONDO:0001815
name: extrapyramidal and movement disease
xref: DOID:13839 {source="MONDO:equivalentTo"}
xref: ICD10CM:G20-G26 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:13839", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G25.9 {source="DOID:13839"}
xref: ICD9:333.90 {source="DOID:13839"}
xref: MEDGEN:852565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:192866001 {source="DOID:13839"}
xref: SCTID:194467002 {source="DOID:13839"}
xref: UMLS:C0477355 {source="MEDGEN:852565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="DOID:13839"} ! movement disorder

[Term]
id: MONDO:0001816
name: scleroperikeratitis
synonym: "scleritis with corneal involvement" EXACT [DOID:13861, ICD9CM:379.05]
xref: DOID:13861 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.04 {source="DOID:13861"}
xref: ICD9:379.05 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13861"}
xref: MEDGEN:509930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:42574005 {source="MONDO:equivalentTo", source="DOID:13861"}
xref: UMLS:C0155355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509930"}
is_a: MONDO:0001718 {source="DOID:13861"} ! scleritis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000964 ! cornea
intersection_of: disease_has_inflammation_site UBERON:0001773 ! sclera

[Term]
id: MONDO:0001817
name: acute closed-angle glaucoma
def: "Acute form of angle-closure glaucoma." [MONDO:patterns/acute]
synonym: "acute angle-closure glaucoma" EXACT [DOID:13862, ICD9CM:365.22]
synonym: "angle-closure glaucoma, acute" EXACT [MONDO:patterns/acute]
xref: DOID:13862 {source="MONDO:equivalentTo"}
xref: ICD10CM:H40.21 {source="DOID:13862"}
xref: ICD9:365.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13862"}
xref: MEDGEN:509735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:30041005 {source="MONDO:equivalentTo", source="DOID:13862"}
xref: UMLS:C0154946 {source="MEDGEN:509735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001868 {source="DOID:13862"} ! primary angle-closure glaucoma
intersection_of: MONDO:0001744 ! angle-closure glaucoma
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001818
name: facial neuralgia
def: "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." [MESH:D005156]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial nerve neuralgia" EXACT [MONDO:patterns/location]
synonym: "neuralgia of facial nerve" EXACT [MONDO:design_pattern]
xref: DOID:13865 {source="MONDO:equivalentTo"}
xref: EFO:0009380 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:351.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005156 {source="DOID:13865", source="MONDO:equivalentTo"}
xref: SCTID:4151000119102 {source="DOID:13865", source="MONDO:equivalentTo"}
xref: UMLS:C0015467 {source="MEDGEN:5099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002098 {source="DOID:13865", source="MESH:D005156", source="MONDO:Redundant"} ! facial nerve disorder
intersection_of: MONDO:0021667 ! neuralgia
intersection_of: disease_has_location UBERON:0001647 ! facial nerve

[Term]
id: MONDO:0001819
name: multiple cranial nerve palsy
synonym: "multiple cranial nerve palsies" EXACT [DOID:13866, ICD9CM:352.6]
xref: DOID:13866 {source="MONDO:equivalentTo"}
xref: ICD10CM:G52.7 {source="DOID:13866"}
xref: ICD9:352.6 {source="DOID:13866", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193100000 {source="DOID:13866"}
xref: SCTID:193103003 {source="DOID:13866"}
xref: SCTID:78152008 {source="DOID:13866", source="MONDO:equivalentTo"}
xref: UMLS:C0154733 {source="MEDGEN:509636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002782 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! cranial nerve palsy
relationship: excluded_subClassOf MONDO:0002639 {source="DOID:13866", source="https://orcid.org/0000-0001-5208-3432"} ! glossopharyngeal nerve disorder

[Term]
id: MONDO:0001820
name: focal labyrinthitis
def: "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma." [DOID:13867, http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false]
synonym: "circumscribed labyrinthitis" EXACT [DOID:13867, ICD9CM:386.32]
xref: DOID:13867 {source="MONDO:equivalentTo"}
xref: ICD9:386.32 {source="DOID:13867", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194364005 {source="DOID:13867"}
xref: SCTID:61794006 {source="DOID:13867", source="MONDO:equivalentTo"}
xref: UMLS:C0155505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509994"}
is_a: MONDO:0002008 {source="DOID:13867", source="DOID:13867/inferred"} ! labyrinthitis
relationship: disease_has_feature HP:0009797 ! Cholesteatoma
relationship: disease_has_feature MONDO:0000748 ! mastoiditis

[Term]
id: MONDO:0001821
name: hypoactive sexual desire disorder
def: "A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition." [NCIT:P378]
synonym: "lack or loss of sexual desire" EXACT [DOID:13868]
xref: DOID:13868 {source="MONDO:equivalentTo"}
xref: ICD10CM:F52.0 {source="DOID:13868", source="MONDO:equivalentTo"}
xref: ICD9:302.71 {source="DOID:13868", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020018 {source="DOID:13868"}
xref: NCIT:C94337 {source="DOID:13868", source="MONDO:equivalentTo"}
xref: SCTID:112096004 {source="DOID:13868"}
xref: SCTID:192464008 {source="DOID:13868"}
xref: SCTID:270903007 {source="DOID:13868", source="MONDO:equivalentTo"}
xref: SCTID:78889008 {source="DOID:13868"}
xref: UMLS:C0020594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43792"}
is_a: MONDO:0000595 {source="DOID:13868/inferred", source="NCIT:C94337"} ! sexual and gender identity disorders
is_a: MONDO:0000947 {source="DOID:13868"} ! psychosexual disorder

[Term]
id: MONDO:0001822
name: hypolipoproteinemia
def: "Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)." [MESH:D007009]
subset: gard_rare {source="GARD:8394", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypolipoproteinaemia" EXACT [DOID:1387]
synonym: "hypolipoproteinemia" EXACT [MONDO:ambiguous]
synonym: "hypolipoproteinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "lipoprotein deficiencies" RELATED [DOID:1387, ICD9CM:272.5]
xref: DOID:1387 {source="MONDO:equivalentTo"}
xref: GARD:8394 {source="MONDO:GARD"}
xref: HP:0010981 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E78.6 {source="DOID:1387"}
xref: ICD9:272.5 {source="DOID:1387"}
xref: MEDGEN:6982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007009 {source="DOID:1387", source="MONDO:equivalentTo"}
xref: SCTID:190783007 {source="DOID:1387"}
xref: SCTID:190788003 {source="DOID:1387"}
xref: SCTID:267436001 {source="DOID:1387"}
xref: SCTID:363140000 {source="DOID:1387", source="MONDO:equivalentTo"}
xref: UMLS:C0020623 {source="MEDGEN:6982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002525 {source="DOID:1387"} ! inherited lipid metabolism disorder
property_value: IAO:0000589 "hypolipoproteinemia (disease)" xsd:string

[Term]
id: MONDO:0001823
name: sick sinus syndrome
def: "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "sinus node infection" EXACT [DOID:13884]
synonym: "SSS" EXACT ABBREVIATION [NCIT:C62244]
xref: DOID:13884 {source="MONDO:equivalentTo"}
xref: ICD10CM:I49.5 {source="MONDO:equivalentTo", source="DOID:13884"}
xref: MEDGEN:20749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012804 {source="MONDO:equivalentTo", source="DOID:13884"}
xref: NANDO:2100043 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200212 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C62244 {source="MONDO:equivalentTo", source="DOID:13884"}
xref: Orphanet:166282 {source="DOID:13884"}
xref: SCTID:155373001 {source="DOID:13884"}
xref: SCTID:266307005 {source="DOID:13884"}
xref: SCTID:36083008 {source="MONDO:equivalentTo", source="DOID:13884"}
xref: UMLS:C0037052 {source="MEDGEN:20749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000469 {source="DOID:13884"} ! sinoatrial node disorder
is_a: MONDO:0002254 {source="NCIT:C62244"} ! syndromic disease
relationship: disease_has_basis_in_dysfunction_of UBERON:0002351 ! sinoatrial node
relationship: disease_has_feature HP:0011675 ! Arrhythmia

[Term]
id: MONDO:0001824
name: polyneuropathy
def: "A disease or disorder affecting more than one nerve." [NCIT:C26951]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polyneuropathy" EXACT [NCIT:C26951]
xref: DOID:1389 {source="MONDO:equivalentTo"}
xref: EFO:0009562 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A69.22 {source="DOID:1389"}
xref: ICD10CM:G60-G65 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G62.9 {source="DOID:1389"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:357.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011115 {source="MONDO:equivalentTo", source="DOID:1389"}
xref: NCIT:C26951 {source="MONDO:equivalentTo", source="DOID:1389", source="MONDO:exact-label-match"}
xref: SCTID:155080009 {source="DOID:1389"}
xref: SCTID:193166009 {source="DOID:1389"}
xref: SCTID:193204000 {source="DOID:1389"}
xref: SCTID:194530007 {source="DOID:1389"}
xref: SCTID:267706009 {source="DOID:1389"}
xref: SCTID:307326004 {source="DOID:1389"}
xref: SCTID:42345000 {source="MONDO:equivalentTo", source="DOID:1389"}
xref: UMLS:C0152025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57502"}
is_a: MONDO:0003620 {source="DOID:1389", source="MESH:D011115", source="MONDO:0001824/inferred", source="MONDO:Redundant", source="NCIT:C26951/inferred"} ! peripheral nervous system disorder
is_a: MONDO:0005244 {source="NCIT:C26951"} ! peripheral neuropathy

[Term]
id: MONDO:0001825
name: squamous papilloma
def: "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." [NCIT:C3712]
subset: otar {source="MONDO:OTAR"}
synonym: "epidermoid cell papilloma" EXACT [NCIT:C3712]
synonym: "epidermoid papilloma" EXACT [DOID:139, NCIT:C3712]
synonym: "keratotic papilloma" EXACT [NCIT:C3712]
synonym: "papilloma, squamous cell, benign" EXACT [NCIT:C3712]
synonym: "squamous cell papilloma" EXACT [NCIT:C3712]
synonym: "squamous cell papilloma (morphologic abnormality)" EXACT [DOID:139]
synonym: "squamous papilloma" EXACT [NCIT:C3712]
xref: DOID:139 {source="MONDO:equivalentTo"}
xref: EFO:1001970 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8052/0 {source="NCIT:C3712"}
xref: MEDGEN:61470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010212 {source="DOID:139"}
xref: NCIT:C3712 {source="DOID:139", source="MONDO:equivalentTo"}
xref: SCTID:63451008 {source="DOID:139"}
xref: UMLS:C0205874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61470"}
is_a: MONDO:0002363 {source="DOID:139", source="NCIT:C3712"} ! papilloma

[Term]
id: MONDO:0001826
name: obsolete hypobetalipoproteinemia
is_obsolete: true
replaced_by: MONDO:0017774

[Term]
id: MONDO:0001827
name: white piedra
def: "A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
synonym: "Tinea blanca" EXACT [DOID:13902, ICD9CM:111.2]
xref: DOID:13902 {source="MONDO:equivalentTo"}
xref: ICD10CM:B36.2 {source="DOID:13902", source="MONDO:equivalentTo"}
xref: ICD9:111.2 {source="DOID:13902", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:452113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010854 {source="DOID:13902"}
xref: SCTID:266218008 {source="DOID:13902"}
xref: SCTID:35586003 {source="DOID:13902", source="MONDO:equivalentTo"}
xref: SCTID:402135006 {source="DOID:13902"}
xref: UMLS:C0040249 {source="MEDGEN:452113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000253 {source="DOID:13902"} ! piedra
intersection_of: MONDO:0024268 ! superficial mycosis
intersection_of: disease_has_infectious_agent NCBITaxon:5553 ! Trichosporon beigelii
relationship: disease_has_location UBERON:0002027 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! stratum corneum of epidermis

[Term]
id: MONDO:0001828
name: acquired color blindness
def: "Non-heritable difficulty in distinguishing colors." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acquired color vision deficiencies" EXACT [DOID:13912, ICD9CM:368.55]
synonym: "acquired color vision deficiency" EXACT [DOID:13912]
synonym: "acquired color vision disorder" EXACT [MONDO:patterns/acquired]
synonym: "acquired colour vision deficiencies" EXACT OMO:0003005 []
synonym: "acquired colour vision deficiency" EXACT OMO:0003005 []
synonym: "acquired colour vision disorder" EXACT OMO:0003005 []
xref: DOID:13912 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.52 {source="DOID:13912", source="MONDO:equivalentTo"}
xref: ICD9:368.55 {source="DOID:13912", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003117 {source="DOID:13912"}
xref: NCIT:C118712 {source="DOID:13912", source="MONDO:equivalentTo"}
xref: SCTID:71676008 {source="DOID:13912", source="MONDO:equivalentTo"}
xref: UMLS:C0155018 {source="MEDGEN:57828", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001703 {source="DOID:13912", source="MONDO:Redundant", source="NCIT:C118712"} ! color vision disorder
intersection_of: MONDO:0001703 ! color vision disorder
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0001829
name: lumbosacral plexus lesion
def: "A nerve plexus disease that involves the lumbosacral nerve plexus." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lumbosacral nerve plexus nerve plexus disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lumbosacral plexus lesions" EXACT [DOID:13913, ICD9CM:353.1]
synonym: "nerve plexus disease of lumbosacral nerve plexus" EXACT [MONDO:design_pattern]
xref: DOID:13913 {source="MONDO:equivalentTo"}
xref: ICD9:353.1 {source="DOID:13913", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:4062006 {source="DOID:13913", source="MONDO:equivalentTo"}
xref: UMLS:C0154735 {source="MEDGEN:509637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003620 {source="DOID:13913", source="MONDO:Redundant"} ! peripheral nervous system disorder
is_a: MONDO:0024432 {source="MONDO:Redundant"} ! nerve plexus disorder
intersection_of: MONDO:0024432 ! nerve plexus disorder
intersection_of: disease_has_location UBERON:0001815 ! lumbosacral nerve plexus

[Term]
id: MONDO:0001830
name: somatization disorder
def: "Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)" [MESH:D013001]
synonym: "Briquet's disorder" EXACT [DOID:13918]
synonym: "Polysomatising disorder" RELATED [DOID:13918]
synonym: "Somatisation disorder" EXACT [DOID:13918]
xref: DOID:13918 {source="MONDO:equivalentTo"}
xref: ICD10CM:F45.0 {source="MONDO:equivalentTo", source="DOID:13918"}
xref: ICD9:300.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13918"}
xref: MEDGEN:99241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013001 {source="DOID:13918"}
xref: SCTID:154892001 {source="DOID:13918"}
xref: SCTID:191743005 {source="DOID:13918"}
xref: SCTID:192431008 {source="DOID:13918"}
xref: SCTID:397795007 {source="DOID:13918"}
xref: SCTID:397826007 {source="DOID:13918"}
xref: SCTID:397923000 {source="MONDO:equivalentTo", source="DOID:13918"}
xref: SCTID:60368009 {source="DOID:13918"}
xref: SCTID:9514005 {source="DOID:13918"}
xref: UMLS:C0520482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99241"}
is_a: MONDO:0003117 {source="DOID:13918"} ! somatoform disorder

[Term]
id: MONDO:0001831
name: irregular astigmatism
xref: DOID:13919 {source="MONDO:equivalentTo"}
xref: ICD10CM:H52.21 {source="DOID:13919"}
xref: ICD9:367.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13919"}
xref: MEDGEN:508922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:47099006 {source="MONDO:equivalentTo", source="DOID:13919"}
xref: UMLS:C0152194 {source="MEDGEN:508922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011284 {source="DOID:13919"} ! astigmatism

[Term]
id: MONDO:0001832
name: bacterial esophagitis
def: "An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations." [NCIT:C27106]
synonym: "bacterial esophagitis" EXACT [NCIT:C27106]
xref: DOID:13921 {source="MONDO:equivalentTo"}
xref: MEDGEN:83319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27106 {source="DOID:13921", source="MONDO:equivalentTo"}
xref: SCTID:235601001 {source="DOID:13921", source="MONDO:equivalentTo"}
xref: UMLS:C0341108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83319"}
is_a: MONDO:0001409 {source="DOID:13921", source="MONDO:Redundant", source="NCIT:C27106"} ! esophagitis
intersection_of: MONDO:0001409 ! esophagitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: transmitted_by NCBITaxon:2 ! Bacteria

[Term]
id: MONDO:0001833
name: lacrimal duct obstruction
def: "Blockage of the tear duct." [NCIT:P378]
synonym: "blocked lacrimal canaliculus" EXACT [DOID:13929]
synonym: "obstruction of lacrimal canaliculus" EXACT [DOID:13929]
synonym: "obstruction of lacrimal ducts" EXACT [DOID:13929]
xref: DOID:13929 {source="MONDO:equivalentTo"}
xref: MEDGEN:226915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007767 {source="MONDO:equivalentTo", source="DOID:13929"}
xref: NCIT:C34757 {source="MONDO:otherHierarchy", source="DOID:13929"}
xref: SCTID:246865000 {source="DOID:13929"}
xref: SCTID:416920000 {source="MONDO:equivalentTo", source="DOID:13929"}
xref: SCTID:95769009 {source="DOID:13929"}
xref: UMLS:C1281931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226915"}
is_a: MONDO:0001854 {source="DOID:13929"} ! lacrimal apparatus disorder
relationship: disease_has_location UBERON:0002392 ! nasolacrimal duct

[Term]
id: MONDO:0001834
name: visual pathway disorder
def: "A disorder of the neural pathway from the optic nerve to the visual cortex." [NCIT:C35342]
comment: Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract
subset: otar {source="MONDO:OTAR"}
synonym: "disease of optic tract" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of optic tract" EXACT []
synonym: "disorder of optic tract" EXACT [MONDO:patterns/location_top]
synonym: "optic tract disease" EXACT [MONDO:patterns/location]
synonym: "optic tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "optic tract disorder" RELATED []
synonym: "visual pathway disorder" EXACT [NCIT:C35342]
xref: DOID:1393 {source="MONDO:equivalentTo"}
xref: ICD10CM:H46-H47 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H47.9 {source="DOID:1393", source="MONDO:equivalentToUnspecified"}
xref: MEDGEN:57831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35342 {source="MONDO:equivalentTo", source="DOID:1393"}
xref: SCTID:155191004 {source="DOID:1393"}
xref: SCTID:194037001 {source="DOID:1393"}
xref: SCTID:267741008 {source="DOID:1393"}
xref: SCTID:267744000 {source="DOID:1393"}
xref: SCTID:54767005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:1393"}
xref: SCTID:95776004 {source="MONDO:equivalentTo"}
xref: UMLS:C0155287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57831"}
is_a: MONDO:0002602 ! central nervous system disorder
is_a: MONDO:0021084 {source="NCIT:C35342"} ! vision disorder
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of visual system
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001908 ! optic tract
relationship: excluded_subClassOf MONDO:0005328 {source="DOID:1393", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder

[Term]
id: MONDO:0001835
name: facial paralysis
def: "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." [MESH:D005158]
subset: otar {source="MONDO:OTAR"}
synonym: "face palsy" EXACT [MONDO:patterns/location]
synonym: "facial palsy" EXACT [DOID:13934, NCIT:C26769]
synonym: "palsy of face" EXACT [MONDO:design_pattern]
xref: DOID:13934 {source="MONDO:equivalentTo"}
xref: ICD10CM:G51.0 {source="DOID:13934"}
xref: MEDGEN:5101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005158 {source="DOID:13934", source="MONDO:equivalentTo"}
xref: NCIT:C26769 {source="DOID:13934"}
xref: SCTID:155070005 {source="DOID:13934"}
xref: SCTID:267703001 {source="DOID:13934"}
xref: SCTID:280816001 {source="DOID:13934", source="MONDO:equivalentTo"}
xref: SCTID:46382007 {source="DOID:13934"}
xref: SCTID:79359001 {source="DOID:13934"}
xref: SCTID:90039006 {source="DOID:13934"}
xref: UMLS:C0015469 {source="MEDGEN:5101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006496 {source="MESH:D005158", source="MONDO:Entailed", source="MONDO:Redundant"} ! palsy
intersection_of: MONDO:0006496 ! palsy
intersection_of: disease_has_location UBERON:0001456 ! face
relationship: disease_has_feature HP:0000297 {source="MONDO:Wikidata"} ! Facial hypotonia

[Term]
id: MONDO:0001836
name: amenorrhea
def: "The absence of menses in a woman who has achieved reproductive age." [NCIT:P378]
synonym: "absence of menstruation" EXACT [DOID:13938, ICD9CM:626.0]
synonym: "amenia" EXACT [DOID:13938]
synonym: "amenorrhea" EXACT [MONDO:ambiguous]
synonym: "amenorrhea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:13938 {source="MONDO:equivalentTo"}
xref: HP:0000141 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N91.2 {source="DOID:13938"}
xref: ICD9:626.0 {source="DOID:13938"}
xref: MEDGEN:8016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000568 {source="DOID:13938", source="MONDO:equivalentTo"}
xref: NCIT:C61443 {source="DOID:13938", source="MONDO:equivalentTo"}
xref: SCTID:14302001 {source="DOID:13938"}
xref: SCTID:156034000 {source="DOID:13938"}
xref: SCTID:156037007 {source="DOID:13938"}
xref: SCTID:198414005 {source="DOID:13938"}
xref: UMLS:C0002453 {source="MEDGEN:8016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:13938", source="NCIT:C61443/inferred"} ! female reproductive system disorder
property_value: IAO:0000589 "amenorrhea (disease)" xsd:string

[Term]
id: MONDO:0001837
name: acute gonococcal salpingitis
def: "Acute form of gonococcal salpingitis." [MONDO:patterns/acute]
synonym: "gonococcal salpingitis, acute" EXACT [MONDO:patterns/acute]
synonym: "gonococcal salpingitis, specified as acute" EXACT [DOID:13942, ICD9CM:098.17]
xref: DOID:13942 {source="MONDO:equivalentTo"}
xref: ICD9:098.17 {source="DOID:13942"}
xref: MEDGEN:546728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:45377007 {source="DOID:13942", source="MONDO:equivalentTo"}
xref: UMLS:C0275654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:546728"}
is_a: MONDO:0001173 {source="DOID:13942", source="MONDO:Redundant"} ! acute salpingitis
is_a: MONDO:0021159 {source="MONDO:Redundant"} ! gonococcal salpingitis
intersection_of: MONDO:0021159 ! gonococcal salpingitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001838
name: acute gonococcal prostatitis
def: "Acute form of gonococcal prostatitis." [MONDO:patterns/acute]
synonym: "acute gonococcal prostatitis" EXACT [DOID:13943]
synonym: "gonococcal prostatitis" BROAD [DOID:13943]
synonym: "gonococcal prostatitis (acute)" EXACT [DOID:13943, ICD9CM:098.12]
synonym: "gonococcal prostatitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:13943 {source="MONDO:equivalentTo"}
xref: ICD9:098.12 {source="DOID:13943", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111806005 {source="DOID:13943", source="MONDO:equivalentTo"}
xref: UMLS:C0153192 {source="MEDGEN:509194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021161 {source="MONDO:Redundant"} ! gonococcal prostatitis
intersection_of: MONDO:0021161 ! gonococcal prostatitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001839
name: obsolete interstitial cystitis
is_obsolete: true
replaced_by: MONDO:0018301

[Term]
id: MONDO:0001840
name: obsolete schistosomiasis
is_obsolete: true
replaced_by: MONDO:0015254

[Term]
id: MONDO:0001841
name: uterine corpus epithelioid leiomyoma
def: "A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters." [NCIT:C40164]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:13951 {source="MONDO:equivalentTo"}
xref: MEDGEN:275554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40164 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:13951"}
xref: UMLS:C1519850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275554"}
is_a: MONDO:0007886 {source="DOID:13951", source="NCIT:C40164"} ! uterine corpus leiomyoma

[Term]
id: MONDO:0001842
name: uterine corpus dissecting leiomyoma
def: "A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cotyledonoid dissecting leiomyoma" EXACT [NCIT:C40172]
synonym: "Sternberg tumor" EXACT [NCIT:C40172]
synonym: "Sternberg tumour" EXACT OMO:0003005 []
xref: DOID:13953 {source="MONDO:equivalentTo"}
xref: MEDGEN:275552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40172 {source="DOID:13953", source="MONDO:equivalentTo"}
xref: UMLS:C1519847 {source="MEDGEN:275552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007886 {source="DOID:13953", source="NCIT:C40172"} ! uterine corpus leiomyoma

[Term]
id: MONDO:0001843
name: uterus interstitial leiomyoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intramural leiomyoma of uterus" EXACT [DOID:13955, ICD9CM:218.1]
xref: DOID:13955 {source="MONDO:equivalentTo"}
xref: ICD10CM:D25.1 {source="DOID:13955", source="MONDO:equivalentTo"}
xref: ICD9:218.1 {source="DOID:13955", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:93616000 {source="DOID:13955", source="MONDO:equivalentTo"}
xref: UMLS:C0153994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509502"}
is_a: MONDO:0007886 {source="DOID:13955"} ! uterine corpus leiomyoma

[Term]
id: MONDO:0001844
name: uterine corpus myxoid leiomyoma
def: "A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma." [NCIT:C40166]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:13956 {source="MONDO:equivalentTo"}
xref: MEDGEN:275558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40166 {source="DOID:13956", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275558"}
is_a: MONDO:0007886 {source="DOID:13956", source="NCIT:C40166"} ! uterine corpus leiomyoma
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C40166/inferred"} ! benign neoplasm of corpus uteri
relationship: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0001845
name: uterine corpus lipoleiomyoma
def: "A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." [NCIT:C40168]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "uterine corpus lipomatous leiomyoma" EXACT [NCIT:C40168]
xref: DOID:13957 {source="MONDO:equivalentTo"}
xref: MEDGEN:311424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40168 {source="DOID:13957", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:311424"}
is_a: MONDO:0005070 {source="DOID:13957/inferred", source="EFO:1000614/inferred", source="MONDO:Redundant", source="NCIT:C40168/inferred"} ! neoplasm
is_a: MONDO:0007886 {source="DOID:13957", source="NCIT:C40168"} ! uterine corpus leiomyoma
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C40168/inferred"} ! benign neoplasm of corpus uteri
relationship: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0001846
name: uterine corpus bizarre leiomyoma
def: "A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei." [NCIT:C40167]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bizarre leiomyoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "body of uterus bizarre leiomyoma" EXACT [MONDO:patterns/location]
synonym: "uterine corpus bizarre leiomyoma" EXACT [NCIT:C40167]
synonym: "uterine corpus leiomyoma with bizarre nuclei" EXACT [NCIT:C40167]
synonym: "uterine corpus leiomyoma, atypical variant" EXACT [NCIT:C40167]
synonym: "uterine corpus Symplastic leiomyoma" EXACT [DOID:13958, NCIT:C40167]
xref: DOID:13958 {source="MONDO:equivalentTo"}
xref: MEDGEN:275555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40167 {source="DOID:13958", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275555"}
is_a: MONDO:0000632 {source="DOID:13958", source="MONDO:Redundant", source="NCIT:C40167/inferred"} ! uterine benign neoplasm
is_a: MONDO:0002654 {source="DOID:13958/inferred", source="MONDO:Redundant", source="NCIT:C40167/inferred"} ! uterine disorder
is_a: MONDO:0003288 {source="DOID:13958", source="MONDO:Redundant", source="NCIT:C40167"} ! bizarre leiomyoma
is_a: MONDO:0007886 {source="MONDO:Redundant", source="NCIT:C40167"} ! uterine corpus leiomyoma
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C40167/inferred"} ! benign neoplasm of corpus uteri
intersection_of: MONDO:0003288 ! bizarre leiomyoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0001847
name: nuclear senile cataract
def: "A senile cataract that involves the lens nucleus." [MONDO:design_pattern]
subset: otar {source="MONDO:OTAR"}
synonym: "lens nucleus senile cataract" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "senile cataract of lens nucleus" EXACT [MONDO:design_pattern]
synonym: "Senile nuclear cataract" EXACT [DOID:13963]
synonym: "Senile nuclear sclerosis" EXACT [DOID:13963, ICD9CM:366.16]
xref: DOID:13963 {source="MONDO:equivalentTo"}
xref: ICD9:366.16 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13963"}
xref: MEDGEN:543204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193589009 {source="MONDO:equivalentTo", source="DOID:13963"}
xref: SCTID:46129005 {source="DOID:13963"}
xref: UMLS:C0271166 {source="MEDGEN:543204", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004847 {source="DOID:13963", source="MONDO:Redundant"} ! senile cataract
intersection_of: MONDO:0004847 ! senile cataract
intersection_of: disease_has_location UBERON:0000390 ! lens nucleus

[Term]
id: MONDO:0001848
name: Morgagni cataract
def: "A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag." [http://eyewiki.aao.org/Morgagnian_Cataract]
synonym: "hypermature cataract" BROAD [DOID:13964, ICD9CM:366.18]
synonym: "Morgagnian cataract" EXACT []
xref: DOID:13964 {source="MONDO:equivalentTo"}
xref: ICD9:366.18 {source="DOID:13964", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193591001 {source="DOID:13964"}
xref: SCTID:22315007 {source="DOID:13964"}
xref: SCTID:247065006 {source="DOID:13964"}
xref: SCTID:264443002 {source="DOID:13964", source="MONDO:equivalentTo"}
xref: SCTID:267626000 {source="DOID:13964"}
xref: UMLS:C0152258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508950"}
is_a: MONDO:0045049 {source="http://eyewiki.aao.org/Morgagnian_Cataract"} ! hypermature cataract
relationship: excluded_subClassOf MONDO:0004847 {source="DOID:13964", source="https://orcid.org/0000-0001-5208-3432"} ! senile cataract

[Term]
id: MONDO:0001849
name: chronic orbital inflammation
synonym: "chronic inflammation of orbit" EXACT [DOID:1397]
xref: DOID:1397 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.1 {source="DOID:1397"}
xref: ICD9:376.1 {source="DOID:1397"}
xref: ICD9:376.10 {source="DOID:1397", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194007005 {source="DOID:1397"}
xref: SCTID:194011004 {source="DOID:1397"}
xref: SCTID:44729001 {source="DOID:1397", source="MONDO:equivalentTo"}
xref: UMLS:C0155261 {source="MEDGEN:509880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004751 {source="DOID:1397"} ! disease of orbital part of eye adnexa

[Term]
id: MONDO:0001850
name: female breast lower-outer quadrant cancer
synonym: "malignant neoplasm of lower-outer quadrant of female breast" EXACT [DOID:13972]
xref: DOID:13972 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50.51 {source="DOID:13972"}
xref: ICD9:174.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13972"}
xref: MEDGEN:509327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188155002 {source="MONDO:equivalentTo", source="DOID:13972"}
xref: UMLS:C0153553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509327"}
is_a: MONDO:0004379 {source="DOID:13972"} ! female breast carcinoma

[Term]
id: MONDO:0001851
name: primary lacrimal atrophy
xref: DOID:1399 {source="MONDO:equivalentTo"}
xref: ICD9:375.13 {source="DOID:1399", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:17093002 {source="DOID:1399", source="MONDO:equivalentTo"}
xref: SCTID:193978007 {source="DOID:1399"}
xref: UMLS:C0155229 {source="MEDGEN:509859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001854 {source="DOID:1399"} ! lacrimal apparatus disorder

[Term]
id: MONDO:0001852
name: small intestine lymphoma
def: "A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoma of small bowel" EXACT [NCIT:C4007]
synonym: "lymphoma of small intestine" EXACT [NCIT:C4007]
synonym: "lymphoma of the small bowel" EXACT [NCIT:C4007]
synonym: "lymphoma of the small intestine" EXACT [NCIT:C4007]
synonym: "primary small intestinal lymphoma" EXACT [NCIT:C4007]
synonym: "small bowel lymphoma" EXACT [NCIT:C4007]
synonym: "small intestinal lymphoma" EXACT [DOID:13996, NCIT:C4007]
synonym: "small intestine lymphoma" EXACT [MONDO:patterns/location, NCIT:C4007]
xref: DOID:13996 {source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4007 {source="MONDO:equivalentTo", source="DOID:13996"}
xref: SCTID:449074003 {source="MONDO:equivalentTo", source="DOID:13996"}
xref: UMLS:C0278805 {source="MONDO:equivalentTo", source="MEDGEN:82986", source="MONDO:MEDGEN"}
is_a: MONDO:0000956 {source="DOID:13996", source="MONDO:Redundant", source="NCIT:C4007"} ! small intestine cancer
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4007"} ! gastrointestinal lymphoma
is_a: MONDO:0005062 {source="DOID:13996", source="MONDO:Redundant", source="NCIT:C4007/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0001853
name: contact blepharoconjunctivitis
xref: DOID:13999 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.53 {source="DOID:13999"}
xref: ICD9:372.22 {source="DOID:13999", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:10813004 {source="DOID:13999", source="MONDO:equivalentTo"}
xref: SCTID:193872007 {source="DOID:13999"}
xref: UMLS:C0155150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509811"}
is_a: MONDO:0002307 {source="DOID:13999"} ! blepharoconjunctivitis

[Term]
id: MONDO:0001854
name: lacrimal apparatus disorder
def: "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." [NCIT:C26809]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of lacrimal apparatus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lacrimal apparatus" EXACT []
synonym: "disorder of lacrimal apparatus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lacrimal system" EXACT [NCIT:C26809]
synonym: "lachrymal system disorders" RELATED []
synonym: "lacrimal apparatus disease" EXACT [MONDO:patterns/location]
synonym: "lacrimal apparatus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lacrimal system disease" EXACT [MONDO:0021628]
synonym: "lacrimal system disorder" EXACT [NCIT:C26809]
xref: DOID:1400 {source="MONDO:equivalentTo"}
xref: EFO:0009455 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H00-H05 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H04 {source="DOID:1400"}
xref: ICD10CM:H04.9 {source="DOID:1400"}
xref: ICD9:375 {source="DOID:1400"}
xref: ICD9:375.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:375.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:375.9 {source="MONDO:equivalentTo", source="DOID:1400", source="MONDO:i2s"}
xref: MEDGEN:5994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007766 {source="MONDO:equivalentTo", source="DOID:1400"}
xref: NCIT:C26809 {source="MONDO:equivalentTo", source="DOID:1400"}
xref: SCTID:155181005 {source="DOID:1400"}
xref: SCTID:155185001 {source="DOID:1400"}
xref: SCTID:194003009 {source="DOID:1400"}
xref: SCTID:267740009 {source="DOID:1400"}
xref: SCTID:31053003 {source="MONDO:equivalentTo", source="DOID:1400"}
xref: UMLS:C0022904 {source="MEDGEN:5994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:1400", source="MONDO:Entailed", source="NCIT:C26809"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001750 ! lacrimal apparatus

[Term]
id: MONDO:0001855
name: rubeosis iridis
xref: DOID:14000 {source="MONDO:equivalentTo"}
xref: ICD10CM:H21.1 {source="DOID:14000"}
xref: ICD9:364.42 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14000"}
xref: MEDGEN:488789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:51995000 {source="MONDO:equivalentTo", source="DOID:14000"}
xref: UMLS:C0154916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488789"}
is_a: MONDO:0005283 {source="DOID:14000"} ! retinal disorder

[Term]
id: MONDO:0001856
name: splenic artery aneurysm
xref: DOID:14006 {source="MONDO:equivalentTo"}
xref: ICD9:442.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14006"}
xref: MEDGEN:510069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:70405009 {source="MONDO:equivalentTo", source="DOID:14006"}
xref: UMLS:C0155747 {source="MEDGEN:510069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="DOID:14006"} ! arterial disorder

[Term]
id: MONDO:0001857
name: Brucella canis brucellosis
def: "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly." [DOID:14019, http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, PMID:1172954]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14019 {source="MONDO:equivalentTo"}
xref: ICD10CM:A23.3 {source="DOID:14019"}
xref: ICD9:023.3 {source="DOID:14019"}
xref: MEDGEN:635501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186308009 {source="DOID:14019"}
xref: SCTID:428174001 {source="DOID:14019", source="MONDO:equivalentTo"}
xref: SCTID:78576009 {source="DOID:14019"}
xref: UMLS:C0494040 {source="MEDGEN:635501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005683 {source="DOID:14019"} ! brucellosis
intersection_of: MONDO:0005683 ! brucellosis
intersection_of: disease_has_infectious_agent NCBITaxon:36855 ! Brucella canis
relationship: disease_has_feature HP:0001324 ! Muscle weakness
relationship: disease_has_feature HP:0001744 ! Splenomegaly
relationship: disease_has_feature HP:0001824 ! Weight loss

[Term]
id: MONDO:0001858
name: Tietze syndrome
def: "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease." [MESH:D013991]
subset: otar {source="MONDO:OTAR"}
synonym: "Chondropathia tuberosa" RELATED [GARD:0010100]
synonym: "Costalchondritis" EXACT [DOID:14021]
synonym: "costochondral joint syndromic disease" EXACT [MONDO:patterns/location]
synonym: "costochondral junction syndrome" EXACT [DOID:14021]
synonym: "Costochondritis" EXACT [DOID:14021]
synonym: "slipping rib syndrome" EXACT [DOID:14021]
synonym: "syndromic disease of costochondral joint" EXACT [MONDO:design_pattern]
synonym: "Tietze syndrome" EXACT [DOID:14021]
synonym: "Tietze's disease" EXACT [DOID:14021, ICD9CM:733.6]
synonym: "Tietze's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:14021 {source="MONDO:equivalentTo"}
xref: ICD10CM:M94.0 {source="DOID:14021"}
xref: ICD9:733.6 {source="DOID:14021", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013991 {source="DOID:14021", source="MONDO:equivalentTo"}
xref: NCIT:C168333 {source="MONDO:equivalentTo"}
xref: SCTID:156848001 {source="DOID:14021"}
xref: SCTID:203323007 {source="DOID:14021"}
xref: SCTID:203523006 {source="DOID:14021"}
xref: SCTID:203529005 {source="DOID:14021"}
xref: SCTID:240136001 {source="DOID:14021"}
xref: SCTID:268130001 {source="DOID:14021"}
xref: SCTID:30128009 {source="DOID:14021", source="MONDO:equivalentTo"}
xref: SCTID:393606005 {source="DOID:14021"}
xref: SCTID:64109004 {source="DOID:14021"}
xref: SCTID:91226007 {source="DOID:14021"}
xref: UMLS:C0040213 {source="MEDGEN:52753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:14021", source="MONDO:Redundant"} ! syndromic disease
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_location UBERON:0002293 ! costochondral joint

[Term]
id: MONDO:0001859
name: algoneurodystrophy
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:14022 {source="MONDO:equivalentTo"}
xref: ICD10CM:M89.0 {source="MONDO:equivalentTo", source="DOID:14022"}
xref: ICD10CM:M89.00 {source="DOID:14022"}
xref: ICD9:733.7 {source="DOID:14022", source="MONDO:directSiblingOf"}
xref: MEDGEN:526108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:203490000 {source="DOID:14022"}
xref: SCTID:203496006 {source="DOID:14022"}
xref: SCTID:7359008 {source="DOID:14022"}
xref: UMLS:C0205930 {source="MEDGEN:526108", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019369 {source="DOID:14022"} ! complex regional pain syndrome

[Term]
id: MONDO:0001860
name: folic acid deficiency anemia
synonym: "folate deficiency anaemia" EXACT OMO:0003005 []
synonym: "folate deficiency anemia" EXACT [DOID:14026]
synonym: "folate-deficiency anaemia" EXACT OMO:0003005 []
synonym: "folate-deficiency anemia" EXACT [DOID:14026, ICD9CM:281.2]
synonym: "folate-deficient megaloblastic anaemia" EXACT OMO:0003005 []
synonym: "folate-deficient megaloblastic anemia" EXACT [DOID:14026]
xref: DOID:14026 {source="MONDO:equivalentTo"}
xref: ICD10CM:D52 {source="DOID:14026"}
xref: ICD10CM:D52.9 {source="DOID:14026"}
xref: ICD9:281.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14026"}
xref: MEDGEN:508764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154791000 {source="DOID:14026"}
xref: SCTID:191152006 {source="DOID:14026"}
xref: SCTID:85649008 {source="MONDO:equivalentTo", source="DOID:14026"}
xref: UMLS:C0151482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508764"}
is_a: MONDO:0006873 {source="DOID:14026"} ! nutritional deficiency disease

[Term]
id: MONDO:0001861
name: malignant parietal pleura tumor
synonym: "primary malignant neoplasm of parietal pleura" EXACT [DOID:14032]
xref: DOID:14032 {source="MONDO:equivalentTo"}
xref: MEDGEN:509310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:93948004 {source="DOID:14032", source="MONDO:equivalentTo"}
xref: UMLS:C0153495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509310"}
is_a: MONDO:0006294 {source="DOID:14032"} ! pleural cancer

[Term]
id: MONDO:0001862
name: malignant visceral pleura tumor
synonym: "primary malignant neoplasm of visceral pleura" EXACT [DOID:14033]
xref: DOID:14033 {source="MONDO:equivalentTo"}
xref: MEDGEN:509311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:94140004 {source="MONDO:equivalentTo", source="DOID:14033"}
xref: UMLS:C0153496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509311"}
is_a: MONDO:0006294 {source="DOID:14033"} ! pleural cancer

[Term]
id: MONDO:0001863
name: aorta atresia
def: "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." [DOID:14037, https://secure.ssa.gov/poms.nsf/lnx/0423022540]
synonym: "atresia and stenosis of aorta" EXACT [DOID:14037]
synonym: "congenital atresia and stenosis of aorta" EXACT [DOID:14037, ICD9CM:747.22]
xref: DOID:14037 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q25.2 {source="MONDO:equivalentTo"}
xref: ICD9:747.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14037"}
xref: MEDGEN:576689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:204431007 {source="MONDO:equivalentTo", source="DOID:14037"}
xref: SCTID:204438001 {source="DOID:14037"}
xref: UMLS:C0345010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576689"}
is_a: MONDO:0005561 {source="DOID:14037"} ! aortic disorder

[Term]
id: MONDO:0001864
name: residual stage angle-closure glaucoma
synonym: "residual stage of angle-closure glaucoma" EXACT [DOID:1404, ICD9CM:365.24]
xref: DOID:1404 {source="MONDO:equivalentTo"}
xref: ICD10CM:H40.24 {source="DOID:1404"}
xref: ICD9:365.24 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1404"}
xref: MEDGEN:509737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:55129006 {source="MONDO:equivalentTo", source="DOID:1404"}
xref: UMLS:C0154948 {source="MEDGEN:509737", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001868 {source="DOID:1404"} ! primary angle-closure glaucoma

[Term]
id: MONDO:0001865
name: obsolete autoimmune polyendocrinopathy syndrome
is_obsolete: true
replaced_by: MONDO:0017278

[Term]
id: MONDO:0001866
name: bipolar I disorder
def: "A bipolar disorder that is characterized by at least one manic or mixed episode." [DOID:14042, http://en.wikipedia.org/wiki/Bipolar_I]
synonym: "bipolar 1 disorder" EXACT []
synonym: "bipolar I disorder" EXACT []
xref: DOID:14042 {source="MONDO:equivalentTo"}
xref: ICD9:296.50 {source="DOID:14042"}
xref: ICD9:296.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:678499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:371596008 {source="MONDO:equivalentTo"}
xref: SCTID:49468007 {source="DOID:14042"}
xref: UMLS:C0853193 {source="MEDGEN:678499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004985 {source="DOID:14042"} ! bipolar disorder

[Term]
id: MONDO:0001867
name: phaeohyphomycosis
def: "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." [https://www.ncbi.nlm.nih.gov/books/NBK7902/]
synonym: "infection by dematiacious fungi" EXACT [DOID:14049]
synonym: "infection by dematiacious fungi [Phaehyphomycosis]" EXACT [DOID:14049, ICD9CM:117.8]
synonym: "phaehyphomycosis" EXACT [DOID:14049]
xref: DOID:14049 {source="MONDO:equivalentTo"}
xref: ICD9:117.8 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:452374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060446 {source="MONDO:equivalentTo"}
xref: SCTID:47158003 {source="MONDO:equivalentTo"}
xref: UMLS:C0276721 {source="MEDGEN:452374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="DOID:14049/inferred", source="MESH:D060446"} ! fungal infectious disease
relationship: disease_has_infectious_agent NCBITaxon:5498 ! Cladosporium
relationship: disease_has_infectious_agent NCBITaxon:5579 ! Aureobasidium
relationship: disease_has_infectious_agent NCBITaxon:5598 ! Alternaria
relationship: disease_has_infectious_agent NCBITaxon:5600 ! Phialophora
relationship: disease_has_infectious_agent NCBITaxon:5970 ! Exophiala dermatitidis
relationship: disease_has_infectious_agent NCBITaxon:66225 ! Phaeoannellomyces
relationship: disease_has_infectious_agent NCBITaxon:86056 ! Rhinocladiella mackenziei
relationship: disease_has_infectious_agent NCBITaxon:89940 ! Cladophialophora bantiana
relationship: disease_has_infectious_agent NCBITaxon:91493 ! Exserohilum
relationship: excluded_subClassOf MONDO:0000308 {source="DOID:14049", source="https://orcid.org/0000-0001-5208-3432"} ! primary systemic mycosis
relationship: has_characteristic MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis" xsd:anyURI {source="GARD:0012803"}

[Term]
id: MONDO:0001868
name: primary angle-closure glaucoma
def: "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." [DOID:1405]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "primary angle closure glaucoma" EXACT [DOID:1405]
xref: DOID:1405 {source="MONDO:equivalentTo"}
xref: EFO:1001506 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H40.2 {source="MONDO:equivalentTo", source="DOID:1405"}
xref: ICD10CM:H40.20 {source="DOID:1405"}
xref: ICD9:365.2 {source="DOID:1405"}
xref: ICD9:365.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1405"}
xref: MEDGEN:42225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34640 {source="MONDO:equivalentObsolete", source="DOID:1405"}
xref: SCTID:155123006 {source="DOID:1405"}
xref: SCTID:193544008 {source="DOID:1405"}
xref: SCTID:193545009 {source="DOID:1405"}
xref: SCTID:193547001 {source="DOID:1405"}
xref: SCTID:270882001 {source="DOID:1405"}
xref: SCTID:392288006 {source="MONDO:equivalentTo", source="DOID:1405"}
xref: SCTID:42456004 {source="DOID:1405"}
xref: UMLS:C0017606 {source="MEDGEN:42225", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001744 {source="DOID:1405"} ! angle-closure glaucoma
is_a: MONDO:0005041 {source="DOID:1405/inferred", source="EFO:1001506", source="ICD10CM:H40.2/inferred", source="MONDO:Redundant", source="NCIT:C34639"} ! glaucoma

[Term]
id: MONDO:0001869
name: paraurethral gland cancer
def: "A malignant neoplasm involving the paraurethral gland." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of paraurethral gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of paraurethral gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant paraurethral gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of paraurethral gland" EXACT [DOID:14059]
synonym: "malignant tumor of the paraurethral gland" EXACT [DOID:14059, NCIT:C3561]
synonym: "malignant tumour of paraurethral gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the paraurethral gland" EXACT OMO:0003005 []
synonym: "paraurethral gland cancer" EXACT [MONDO:patterns/location]
xref: DOID:14059 {source="MONDO:equivalentTo"}
xref: ICD10CM:C68.1 {source="DOID:14059"}
xref: ICD9:189.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14059"}
xref: MEDGEN:509343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363460002 {source="MONDO:equivalentTo", source="DOID:14059"}
xref: SCTID:93944002 {source="DOID:14059"}
xref: UMLS:C0153621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509343"}
is_a: MONDO:0001528 {source="MONDO:Redundant"} ! vulva cancer
is_a: MONDO:0002219 {source="MONDO:Redundant"} ! paraurethral gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0010145 ! paraurethral gland

[Term]
id: MONDO:0001870
name: acute poststreptococcal glomerulonephritis
def: "Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female." [https://clinicaltrials.gov/ct2/show/NCT03184103]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "post-streptococcal glomerulonephritis" RELATED [DOID:14064, NCIT:C35443]
xref: DOID:14064 {source="MONDO:equivalentTo"}
xref: MEDGEN:140785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35443 {source="DOID:14064", source="MONDO:directSiblingOf"}
xref: SCTID:68544003 {source="MONDO:equivalentTo", source="DOID:14064"}
xref: UMLS:C0403414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140785"}
is_a: MONDO:0002462 {source="DOID:14064"} ! glomerulonephritis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001871
name: acute diffuse glomerulonephritis
def: "An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure." [NCIT:C35587]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acute diffuse glomerulonephritis" EXACT [DOID:14066, NCIT:C35587]
synonym: "acute diffuse nephritis" RELATED [DOID:14066]
synonym: "diffuse glomerulonephritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:14066 {source="MONDO:equivalentTo"}
xref: MEDGEN:137959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35587 {source="MONDO:equivalentTo", source="DOID:14066"}
xref: SCTID:197585004 {source="MONDO:equivalentTo", source="DOID:14066"}
xref: UMLS:C0341689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137959"}
is_a: MONDO:0003137 {source="DOID:14066", source="MONDO:Redundant", source="NCIT:C35587"} ! diffuse glomerulonephritis
intersection_of: MONDO:0003137 ! diffuse glomerulonephritis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001872
name: obsolete vestibular nystagmus
synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [DOID:14070, ICD9CM:379.54]
synonym: "obsolete vestibular nystagmus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "vestibular nystagmus" EXACT [MONDO:ambiguous]
xref: DOID:14070 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:379.54 {source="DOID:14070", source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: SCTID:46888001 {source="DOID:14070", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000589 "obsolete vestibular nystagmus (disease)" xsd:string
is_obsolete: true
replaced_by: HP:0010542

[Term]
id: MONDO:0001873
name: geniculate ganglionitis
def: "Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation." [MESH:D005155]
synonym: "geniculate ganglion inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "geniculate ganglionitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of geniculate ganglion" EXACT []
xref: DOID:14075 {source="MONDO:equivalentTo"}
xref: ICD10CM:G51.1 {source="MONDO:equivalentTo", source="DOID:14075"}
xref: ICD9:351.1 {source="MONDO:equivalentTo", source="DOID:14075", source="MONDO:i2s"}
xref: MEDGEN:4879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005155 {source="DOID:14075"}
xref: SCTID:155071009 {source="DOID:14075"}
xref: SCTID:267704007 {source="DOID:14075"}
xref: SCTID:72839009 {source="MONDO:equivalentTo", source="DOID:14075"}
xref: UMLS:C0017407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4879"}
is_a: MONDO:0002098 {source="DOID:14075", source="ICD10CM:G51.1"} ! facial nerve disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001700 ! geniculate ganglion
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0001874
name: toxic labyrinthitis
def: "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic." [DOID:14081, http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false, PMID:16448876]
synonym: "ototoxicity" RELATED []
xref: DOID:14081 {source="MONDO:equivalentTo"}
xref: ICD9:386.34 {source="DOID:14081", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:3344003 {source="DOID:14081", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:9062008 {source="MONDO:equivalentTo"}
xref: UMLS:C0155507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509996"}
is_a: MONDO:0002008 {source="DOID:14081", source="DOID:14081/inferred"} ! labyrinthitis

[Term]
id: MONDO:0001875
name: epicondylitis
def: "Inflammation of the lateral epicondyle." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "andrel epicondylitis" EXACT [DOID:14087]
synonym: "archer's elbow" EXACT [DOID:14087]
synonym: "ectepicondyle of humerus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "golfer's elbow" EXACT [DOID:14087]
synonym: "hockey elbow" EXACT [DOID:14087]
synonym: "inflammation of ectepicondyle of humerus" EXACT []
synonym: "lateral epicondylitis" EXACT [DOID:14087, ICD9CM:726.32]
synonym: "medial epicondylitis" EXACT [DOID:14087]
synonym: "shooter's elbow" RELATED [DOID:14087]
synonym: "tennis elbow" RELATED [DOID:14087]
xref: DOID:14087 {source="MONDO:equivalentTo"}
xref: EFO:1001887 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M77.1 {source="DOID:14087", source="MONDO:equivalentTo"}
xref: ICD9:726.32 {source="DOID:14087", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013716 {source="DOID:14087", source="MONDO:equivalentTo"}
xref: NCIT:C34589 {source="DOID:14087", source="MONDO:equivalentTo"}
xref: NCIT:C35067 {source="DOID:14087"}
xref: SCTID:156659008 {source="DOID:14087"}
xref: SCTID:202855006 {source="DOID:14087", source="MONDO:equivalentTo"}
xref: SCTID:24133009 {source="DOID:14087"}
xref: SCTID:268088003 {source="DOID:14087"}
xref: SCTID:73583000 {source="DOID:14087"}
xref: UMLS:C0014488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4090"}
is_a: MONDO:0002614 {source="DOID:14087"} ! bone inflammation disease
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0006807 ! ectepicondyle of humerus

[Term]
id: MONDO:0001876
name: renal artery atheroma
def: "A atherosclerosis that involves the renal artery." [MONDO:patterns/location]
synonym: "atherosclerosis of renal artery" EXACT [DOID:14092, ICD9CM:440.1]
synonym: "renal artery atherosclerosis" EXACT [MONDO:patterns/location]
synonym: "renal atherosclerosis" EXACT [DOID:14092]
xref: DOID:14092 {source="MONDO:equivalentTo"}
xref: ICD10CM:I70.1 {source="DOID:14092", source="MONDO:equivalentTo"}
xref: ICD9:440.1 {source="DOID:14092", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155416004 {source="DOID:14092"}
xref: SCTID:45281005 {source="DOID:14092", source="MONDO:equivalentTo"}
xref: UMLS:C0155734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510062"}
is_a: MONDO:0002286 {source="DOID:14092"} ! renal artery disease
is_a: MONDO:0005311 {source="DOID:14092", source="ICD10CM:I70.1", source="MONDO:Entailed"} ! atherosclerosis
intersection_of: MONDO:0005311 ! atherosclerosis
intersection_of: disease_has_location UBERON:0001184 ! renal artery

[Term]
id: MONDO:0001877
name: infertility due to extratesticular cause
synonym: "infertility due to extratesticular causes" EXACT [DOID:14096, ICD9CM:606.8]
xref: DOID:14096 {source="MONDO:equivalentTo"}
xref: ICD9:606.8 {source="DOID:14096", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:507846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198011008 {source="DOID:14096"}
xref: SCTID:198017007 {source="DOID:14096"}
xref: SCTID:84245004 {source="DOID:14096", source="MONDO:equivalentTo"}
xref: UMLS:C0021360 {source="MEDGEN:507846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005372 {source="DOID:14096"} ! male infertility

[Term]
id: MONDO:0001878
name: acquired hypertrophic pyloric stenosis
def: "An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired gastric outlet stenosis" EXACT [DOID:14099]
synonym: "acquired hypertrophic pyloric stenosis" EXACT [DOID:14099, MONDO:patterns/acquired]
synonym: "adult hypertrophic pyloric stenosis" EXACT [DOID:14099]
xref: DOID:14099 {source="MONDO:equivalentTo"}
xref: ICD9:537.0 {source="DOID:14099"}
xref: MEDGEN:675190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:13483000 {source="DOID:14099"}
xref: SCTID:266438007 {source="MONDO:equivalentTo"}
xref: UMLS:C0700588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:675190"}
is_a: MONDO:0001561 {source="DOID:14099", source="DOID:14099/inferred"} ! pyloric stenosis
intersection_of: MONDO:0001560 ! hypertrophic pyloric stenosis
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0001879
name: anus cancer
def: "A malignant neoplasm involving the anus" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "anal cancer" RELATED EXCLUDE [DOID:14110]
synonym: "anus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of anus" EXACT [MONDO:patterns/cancer]
synonym: "malignant anal neoplasm" EXACT [NCIT:C7379]
synonym: "malignant anal tumor" EXACT [DOID:14110, NCIT:C7379]
synonym: "malignant anal tumour" EXACT OMO:0003005 []
synonym: "malignant anus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of anus" EXACT [MONDO:patterns/cancer, NCIT:C7379]
synonym: "malignant neoplasm of the anus" EXACT [NCIT:C7379]
synonym: "malignant tumor of anus" EXACT [NCIT:C7379]
synonym: "malignant tumor of the anus" EXACT [NCIT:C7379]
synonym: "malignant tumour of anus" EXACT OMO:0003005 []
synonym: "malignant tumour of the anus" EXACT OMO:0003005 []
xref: DOID:14110 {source="MONDO:equivalentTo"}
xref: ICD10CM:C21.0 {source="DOID:14110"}
xref: ICD10CM:C21.1 {source="DOID:14110"}
xref: ICD9:154.2 {source="MONDO:relatedTo", source="DOID:14110"}
xref: ICD9:154.3 {source="DOID:14110"}
xref: MEDGEN:56303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7379 {source="MONDO:equivalentTo", source="DOID:14110"}
xref: SCTID:187762000 {source="DOID:14110"}
xref: SCTID:187764004 {source="DOID:14110"}
xref: SCTID:363352004 {source="MONDO:relatedTo", source="DOID:14110"}
xref: SCTID:363490009 {source="DOID:14110"}
xref: SCTID:93669004 {source="DOID:14110"}
xref: SCTID:93676009 {source="DOID:14110"}
xref: UMLS:C0153446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56303"}
is_a: MONDO:0002516 {source="DOID:14110/inferred", source="MONDO:Redundant", source="NCIT:C7379"} ! digestive system cancer
is_a: MONDO:0002519 {source="DOID:14110", source="MONDO:Redundant", source="NCIT:C7379/inferred"} ! anus disorder
is_a: MONDO:0003046 {source="MONDO:Redundant", source="NCIT:C7379"} ! anus neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0001880
name: median rhomboid glossitis
synonym: "persistent tuberculum impar" EXACT [DOID:14111]
xref: DOID:14111 {source="MONDO:equivalentTo"}
xref: ICD10CM:K14.2 {source="MONDO:equivalentTo", source="DOID:14111"}
xref: ICD9:529.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14111"}
xref: ICD9:750.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:510155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:7522008 {source="MONDO:equivalentTo", source="DOID:14111"}
xref: UMLS:C0155963 {source="MEDGEN:510155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006771 {source="DOID:14111"} ! glossitis

[Term]
id: MONDO:0001881
name: toxic shock syndrome
def: "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria." [https://orcid.org/0000-0002-6601-2165, NCIT:C35498, Wikipedia:Toxic_shock_syndrome]
subset: gard_rare {source="GARD:9560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1782"}
subset: ordo_disorder {source="Orphanet:36234"}
subset: orphanet_rare {source="Orphanet:36234"}
subset: rare
synonym: "bacterial toxic-shock syndrome" EXACT [MONDO:0018179]
synonym: "bacterial TSS" EXACT [Orphanet:36234]
synonym: "shock syndrome (TSS), toxic" EXACT [NCIT:C35498]
synonym: "staphylococcal toxic shock syndrome" RELATED [GARD:0009560]
synonym: "syndrome (TSS), toxic shock" EXACT [NCIT:C35498]
synonym: "toxic shock" EXACT [DOID:14115]
synonym: "toxic shock syndrome" EXACT [DOID:14115, ICD9CM:040.82, NCIT:C35498]
synonym: "toxic shock syndrome, (TSS)" EXACT [NCIT:C35498]
synonym: "TSS" EXACT ABBREVIATION [DOID:14115]
synonym: "TSS, toxic shock syndrome" EXACT [NCIT:C35498]
xref: DOID:14115 {source="MONDO:equivalentTo"}
xref: GARD:9560 {source="MONDO:GARD"}
xref: ICD10CM:A48.3 {source="Orphanet:36234/e", source="MONDO:equivalentTo", source="DOID:14115", source="Orphanet:36234"}
xref: icd11.foundation:114886962 {source="MONDO:equivalentTo", source="Orphanet:36234"}
xref: ICD9:040.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14115"}
xref: MEDGEN:109414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012772 {source="MONDO:equivalentTo", source="DOID:14115"}
xref: NCIT:C35498 {source="MONDO:equivalentTo", source="DOID:14115"}
xref: NORD:1782 {source="MONDO:NORD"}
xref: Orphanet:36234 {source="MONDO:equivalentTo"}
xref: SCTID:18504008 {source="MONDO:equivalentTo", source="DOID:14115"}
xref: UMLS:C0600327 {source="MEDGEN:109414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000315 {source="DOID:14115"} ! commensal bacterial infectious disease
is_a: MONDO:0002254 {source="NCIT:C35498"} ! syndromic disease
is_a: MONDO:0005113 {source="Orphanet:36234"} ! bacterial infectious disease
relationship: disease_has_feature HP:0000707 ! Abnormality of the nervous system
relationship: disease_has_feature HP:0002615 ! Hypotension
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0001882
name: bacteriuria
def: "The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection." [MESH:D001437]
synonym: "bacteriuria" EXACT [MONDO:ambiguous]
synonym: "bacteriuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: CSP:3045-9976 {source="DOID:1412"}
xref: DOID:1412 {source="MONDO:equivalentTo"}
xref: HP:0012461 {source="DOID:1412", source="MONDO:otherHierarchy"}
xref: MedDRA:10004056 {source="DOID:1412"}
xref: MEDGEN:491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001437 {source="DOID:1412", source="MONDO:equivalentTo"}
xref: SCTID:61373006 {source="DOID:1412"}
xref: UMLS:C0004659 {source="MEDGEN:491", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="DOID:1412", source="MESH:D001437/inferred"} ! urinary system disorder
property_value: IAO:0000589 "bacteriuria (disease)" xsd:string

[Term]
id: MONDO:0001883
name: blue toe syndrome
def: "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation." [MESH:D018438]
xref: DOID:14121 {source="MONDO:equivalentTo"}
xref: MEDGEN:66940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018438 {source="MONDO:equivalentTo", source="DOID:14121"}
xref: UMLS:C0242645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66940"}
is_a: MONDO:0005568 {source="DOID:14121", source="MESH:D018438"} ! cholesterol embolism

[Term]
id: MONDO:0001884
name: abducens nerve neoplasm
def: "A neoplasm involving a abducens nerve." [MONDO:patterns/neoplasm]
synonym: "abducens nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "abducens nerve neoplasms" EXACT [NCIT:C5826]
synonym: "abducens nerve tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "abducens nerve tumors" EXACT [NCIT:C5826]
synonym: "abducens nerve tumour" EXACT OMO:0003005 []
synonym: "abducens nerve tumours" EXACT OMO:0003005 []
synonym: "neoplasm of abducens nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of sixth cranial nerve" EXACT [NCIT:C5826]
synonym: "neoplasm of the abducens nerve" EXACT [NCIT:C5826]
synonym: "neoplasm of the sixth cranial nerve" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve neoplasm" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve neoplasms" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve tumor" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve tumors" EXACT [NCIT:C5826]
synonym: "sixth cranial nerve tumour" EXACT OMO:0003005 []
synonym: "sixth cranial nerve tumours" EXACT OMO:0003005 []
synonym: "tumor of abducens nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5826]
synonym: "tumor of sixth cranial nerve" EXACT [NCIT:C5826]
synonym: "tumor of the abducens nerve" EXACT [NCIT:C5826]
synonym: "tumor of the sixth cranial nerve" EXACT [NCIT:C5826]
synonym: "tumour of abducens nerve" EXACT OMO:0003005 []
synonym: "tumour of sixth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the abducens nerve" EXACT OMO:0003005 []
synonym: "tumour of the sixth cranial nerve" EXACT OMO:0003005 []
synonym: "VIth cranial nerve neoplasms" EXACT [NCIT:C5826]
synonym: "VIth cranial nerve tumors" EXACT [DOID:14125, NCIT:C5826]
synonym: "VIth cranial nerve tumours" EXACT OMO:0003005 []
xref: DOID:14125 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5826 {source="MONDO:equivalentTo", source="DOID:14125"}
xref: SCTID:126972009 {source="MONDO:equivalentTo", source="DOID:14125"}
xref: UMLS:C1263898 {source="MEDGEN:224732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002633 {source="DOID:14125", source="MONDO:Redundant", source="NCIT:C5826"} ! cranial nerve neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001646 ! abducens nerve

[Term]
id: MONDO:0001885
name: lateral cystocele
xref: DOID:14130 {source="MONDO:equivalentTo"}
xref: ICD10CM:N81.12 {source="MONDO:equivalentTo", source="DOID:14130"}
xref: ICD9:618.02 {source="MONDO:equivalentTo", source="DOID:14130", source="MONDO:i2s"}
xref: MEDGEN:751516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:441891001 {source="MONDO:equivalentTo", source="DOID:14130"}
xref: UMLS:C2711750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:751516"}
is_a: MONDO:0001592 {source="DOID:14130", source="ICD10CM:N81.12", source="ICD10CM:N81.12/inferred"} ! prolapse of female genital organ

[Term]
id: MONDO:0001886
name: midline cystocele
xref: DOID:14131 {source="MONDO:equivalentTo"}
xref: ICD10CM:N81.11 {source="DOID:14131", source="MONDO:equivalentTo"}
xref: ICD9:618.01 {source="DOID:14131", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:733480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:423633003 {source="DOID:14131", source="MONDO:equivalentTo"}
xref: UMLS:C1456248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:733480"}
is_a: MONDO:0001592 {source="DOID:14131", source="ICD10CM:N81.11", source="ICD10CM:N81.11/inferred"} ! prolapse of female genital organ

[Term]
id: MONDO:0001887
name: Allen-Masters syndrome
def: "A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix." [doi:10.1007/s10620-006-9237-7]
synonym: "Broad ligament laceration syndrome" EXACT [DOID:14133, ICD9CM:620.6]
synonym: "Masters-Allen syndrome" EXACT [DOID:14133]
xref: DOID:14133 {source="MONDO:equivalentTo"}
xref: ICD9:620.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14133"}
xref: MEDGEN:508875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:69186005 {source="MONDO:equivalentTo", source="DOID:14133"}
xref: UMLS:C0152079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508875"}
is_a: MONDO:0002263 {source="DOID:14133"} ! female reproductive system disorder
is_a: MONDO:0045043 {source="MONDO:Redundant"} ! disorder of uterine broad ligament
relationship: disease_has_location UBERON:0012332 ! broad ligament of uterus

[Term]
id: MONDO:0001888
name: anus lymphoma
def: "A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal lymphoma" EXACT [NCIT:C5601]
synonym: "anus lymphoma" EXACT [MONDO:patterns/location]
synonym: "lymphoma of anus" EXACT [DOID:14139, NCIT:C5601]
synonym: "lymphoma of the anus" EXACT [NCIT:C5601]
synonym: "primary anal lymphoma" EXACT [NCIT:C5601]
xref: DOID:14139 {source="MONDO:equivalentTo"}
xref: MEDGEN:272308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5601 {source="MONDO:equivalentTo", source="DOID:14139"}
xref: UMLS:C1332268 {source="MEDGEN:272308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001879 {source="DOID:14139", source="MONDO:Redundant", source="NCIT:C5601"} ! anus cancer
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C5601"} ! gastrointestinal lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0001889
name: ovarian dysfunction
def: "The inability of the ovaries to function." [NCIT:C113351]
subset: otar {source="MONDO:OTAR"}
synonym: "ovarian failure" EXACT [NCIT:C113351]
synonym: "ovarian hypofunction" EXACT [NCIT:C113351]
synonym: "ovarian insufficiency" EXACT [NCIT:C113351]
xref: DOID:1414 {source="MONDO:equivalentTo"}
xref: EFO:0009003 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E28 {source="MONDO:equivalentTo"}
xref: ICD9:256.3 {source="DOID:1414"}
xref: ICD9:256.39 {source="DOID:1414"}
xref: ICD9:256.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:256.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C113351 {source="MONDO:equivalentTo"}
xref: SCTID:190543001 {source="DOID:1414"}
xref: SCTID:190548005 {source="DOID:1414"}
xref: SCTID:267399006 {source="DOID:1414"}
xref: SCTID:37102008 {source="MONDO:equivalentTo"}
xref: UMLS:C0154208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509544"}
is_a: MONDO:0005558 {source="DOID:1414", source="EFO:0009003", source="NCIT:C113351/inferred"} ! ovarian disorder

[Term]
id: MONDO:0001890
name: pulp erosion
def: "A tooth erosion, non-bacterial that involves the dental pulp." [MONDO:design_pattern]
synonym: "dental pulp tooth erosion, non-bacterial" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "tooth erosion, non-bacterial of dental pulp" EXACT [MONDO:design_pattern]
xref: DOID:14140 {source="MONDO:equivalentTo"}
xref: ICD9:521.33 {source="DOID:14140"}
xref: MEDGEN:1843466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1456163 {source="MEDGEN:1843466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002325 {source="DOID:14140", source="MONDO:Redundant"} ! tooth erosion, non-bacterial
intersection_of: MONDO:0002325 ! tooth erosion, non-bacterial
intersection_of: disease_has_location UBERON:0001754 ! dental pulp

[Term]
id: MONDO:0001891
name: obsolete malignant anus melanoma
is_obsolete: true
replaced_by: MONDO:0006081

[Term]
id: MONDO:0001892
name: spinal cord lymphoma
def: "A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion." [NCIT:C5157]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoma of spinal cord" EXACT [NCIT:C5157]
synonym: "lymphoma of the spinal cord" EXACT [DOID:14150, NCIT:C5157]
synonym: "primary spinal cord lymphoma" EXACT [NCIT:C5157]
synonym: "spinal cord cancer" RELATED [DOID:14150]
synonym: "spinal cord lymphoma" EXACT [MONDO:patterns/location, NCIT:C5157]
xref: DOID:14150 {source="MONDO:equivalentTo"}
xref: MEDGEN:236836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5157 {source="DOID:14150", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236836"}
is_a: MONDO:0002571 {source="DOID:14150", source="MONDO:Redundant", source="NCIT:C5157"} ! primary central nervous system lymphoma
is_a: MONDO:0003544 {source="DOID:14150", source="MONDO:Redundant", source="NCIT:C5157"} ! spinal cord cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0001893
name: spinal cord melanoma
def: "A melanoma (disease) that involves the spinal cord." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "melanoma (disease) of spinal cord" EXACT []
synonym: "melanoma of spinal cord" EXACT [NCIT:C5158]
synonym: "melanoma of the spinal cord" EXACT [DOID:14151, NCIT:C5158]
synonym: "spinal cord melanoma" EXACT [NCIT:C5158]
synonym: "spinal cord melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:14151 {source="MONDO:equivalentTo"}
xref: MEDGEN:236837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5158 {source="DOID:14151", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236837"}
is_a: MONDO:0003222 {source="MONDO:Entailed", source="NCIT:C5158/inferred"} ! central nervous system melanocytic neoplasm
is_a: MONDO:0003544 {source="DOID:14151", source="MONDO:Redundant", source="NCIT:C5158"} ! spinal cord cancer
is_a: MONDO:0005105 {source="DOID:14151", source="MONDO:Entailed", source="NCIT:C5158/inferred"} ! melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0001894
name: spinal cord sarcoma
def: "A sarcoma that arises from the spinal cord." [NCIT:C5152]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "sarcoma of spinal cord" EXACT [MONDO:patterns/sarcoma, NCIT:C5152]
synonym: "sarcoma of the spinal cord" EXACT [DOID:14152, NCIT:C5152]
synonym: "spinal cord sarcoma" EXACT [MONDO:patterns/location, NCIT:C5152]
xref: DOID:14152 {source="MONDO:equivalentTo"}
xref: MEDGEN:233459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5152 {source="MONDO:equivalentTo", source="DOID:14152", source="MONDO:exact-label-match"}
xref: UMLS:C1336049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233459"}
is_a: MONDO:0002217 {source="DOID:14152", source="MONDO:Redundant", source="NCIT:C5152"} ! central nervous system sarcoma
is_a: MONDO:0003544 {source="DOID:14152", source="MONDO:Redundant", source="NCIT:C5152"} ! spinal cord cancer
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0001895
name: acute retrobulbar neuritis
def: "Acute form of retrobulbar neuritis." [MONDO:patterns/acute]
synonym: "retrobulbar neuritis" RELATED EXCLUDE [DOID:14155]
synonym: "retrobulbar neuritis (acute)" EXACT [DOID:14155, ICD9CM:377.32]
synonym: "retrobulbar neuritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:14155 {source="MONDO:equivalentTo"}
xref: ICD9:377.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14155"}
xref: MEDGEN:509901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:51604006 {source="MONDO:equivalentTo", source="DOID:14155"}
xref: UMLS:C0155301 {source="MEDGEN:509901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005885 {source="DOID:14155", source="MONDO:Redundant"} ! optic neuritis
intersection_of: MONDO:0024335 ! retrobulbar neuritis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001896
name: obstructive hydrocephalus
def: "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "non-communicating hydrocephalus" EXACT [NCIT:C116347]
xref: DOID:14159 {source="MONDO:equivalentTo"}
xref: ICD10CM:G91.1 {source="MONDO:equivalentTo", source="DOID:14159"}
xref: ICD9:331.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14159"}
xref: MEDGEN:108198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006849 {source="DOID:14159"}
xref: NCIT:C116347 {source="MONDO:equivalentTo", source="DOID:14159"}
xref: SCTID:230746009 {source="MONDO:equivalentTo", source="DOID:14159"}
xref: SCTID:82346000 {source="DOID:14159"}
xref: UMLS:C0549423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108198"}
is_a: MONDO:0001150 {source="DOID:14159", source="ICD10CM:G91.1", source="NCIT:C116347"} ! hydrocephalus

[Term]
id: MONDO:0001897
name: bilateral hyperactive labyrinth
synonym: "hyperactive bilateral labyrinthine dysfunction" EXACT [DOID:14165]
synonym: "hyperactive labyrinth, bilateral" EXACT [DOID:14165, ICD9CM:386.52]
xref: DOID:14165 {source="MONDO:equivalentTo"}
xref: ICD9:386.52 {source="DOID:14165"}
xref: MEDGEN:510002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194373002 {source="MONDO:equivalentTo", source="DOID:14165"}
xref: SCTID:5311007 {source="DOID:14165"}
xref: UMLS:C0155516 {source="MEDGEN:510002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:14165", source="https://github.com/monarch-initiative/mondo/issues/389"} ! inner ear disorder

[Term]
id: MONDO:0001898
name: optic choroid disorder
def: "A disease involving the optic choroid." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "choroid disease" RELATED [DOID:1417]
synonym: "choroid disorder" EXACT [NCIT:C34468]
synonym: "disease of optic choroid" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of optic choroid" EXACT []
synonym: "disorder of optic choroid" EXACT [MONDO:patterns/location_top]
synonym: "optic choroid disease" EXACT [MONDO:patterns/location]
synonym: "optic choroid disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1417 {source="MONDO:equivalentTo"}
xref: ICD10CM:H30-H36 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H31.9 {source="DOID:1417"}
xref: ICD9:363.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:363.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1417"}
xref: MEDGEN:892839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015862 {source="MONDO:equivalentTo", source="DOID:1417"}
xref: NCIT:C34468 {source="MONDO:equivalentTo", source="DOID:1417"}
xref: SCTID:128468007 {source="MONDO:equivalentTo"}
xref: SCTID:193431000 {source="DOID:1417"}
xref: SCTID:193480005 {source="DOID:1417"}
xref: UMLS:C4025836 {source="MEDGEN:892839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002661 {source="DOID:1417", source="MESH:D015862", source="MONDO:Redundant", source="NCIT:C34468"} ! uveal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0001899
name: rheumatic congestive heart failure
synonym: "congestive rheumatic heart failure" EXACT [DOID:14172]
synonym: "rheumatic heart failure" EXACT [DOID:14172]
synonym: "rheumatic heart failure (congestive)" EXACT [DOID:14172, ICD9CM:398.91]
xref: DOID:14172 {source="MONDO:equivalentTo"}
xref: ICD10CM:I09.81 {source="DOID:14172", source="MONDO:equivalentTo"}
xref: ICD9:398.91 {source="DOID:14172", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:82523003 {source="DOID:14172", source="MONDO:equivalentTo"}
xref: UMLS:C0155582 {source="MEDGEN:510028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005009 {source="DOID:14172"} ! congestive heart failure
is_a: MONDO:0006955 {source="ICD10CM:I09.81/inferred"} ! rheumatic heart disease

[Term]
id: MONDO:0001900
name: obsolete central neurocytoma
is_obsolete: true
replaced_by: MONDO:0019134

[Term]
id: MONDO:0001901
name: selective IgG subclass deficiency
def: "A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria." [NCIT:C27024]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Immunoglobin G subclass deficiency" EXACT [DOID:14176]
synonym: "selective deficiency of IgG" EXACT [DOID:14176]
synonym: "selective IgG deficiency disease" RELATED [DOID:14176]
synonym: "selective IgG immunodeficiency" RELATED [DOID:14176, NCIT:C27142]
synonym: "selective immunoglobulin G deficiency" EXACT [DOID:14176]
synonym: "selective Immunoglobulin G subclass deficiency" EXACT [DOID:14176, NCIT:C27024]
xref: DOID:14176 {source="MONDO:equivalentTo"}
xref: ICD10CM:D80.3 {source="DOID:14176"}
xref: ICD9:279.03 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017099 {source="MONDO:equivalentTo", source="DOID:14176"}
xref: NCIT:C27024 {source="MONDO:equivalentTo", source="DOID:14176"}
xref: NCIT:C27142 {source="DOID:14176"}
xref: SCTID:123785006 {source="DOID:14176"}
xref: SCTID:190981001 {source="MONDO:equivalentTo", source="DOID:14176"}
xref: UMLS:C0162539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56446"}
is_a: MONDO:0015697 {source="https://orcid.org/0000-0001-5208-3432"} ! immunoglobulin heavy chain deficiency
is_a: MONDO:0045045 {source="NCIT:C27024"} ! selective IgG immunodeficiency
relationship: excluded_subClassOf MONDO:0001342 {source="DOID:14176", source="https://orcid.org/0000-0001-5208-3432"} ! dysgammaglobulinemia

[Term]
id: MONDO:0001902
name: congenital agammaglobulinemia
def: "An instance of agammaglobulinemia that is present from birth." [MONDO:patterns/congenital]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital agammaglobulinemia" EXACT [MONDO:patterns/congenital]
synonym: "congenital hypogammaglobulinaemia" EXACT [DOID:14177]
synonym: "congenital hypogammaglobulinemia (finding)" EXACT [DOID:14177]
xref: DOID:14177 {source="MONDO:equivalentTo"}
xref: ICD9:279.04 {source="DOID:14177"}
xref: MEDGEN:1806025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190983003 {source="DOID:14177"}
xref: SCTID:267460002 {source="DOID:14177"}
xref: UMLS:C5574711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806025"}
intersection_of: MONDO:0015977 ! agammaglobulinemia
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: excluded_subClassOf MONDO:0002211 {source="DOID:14177", source="https://orcid.org/0000-0001-5208-3432"} ! B cell deficiency

[Term]
id: MONDO:0001903
name: calcific tendinitis
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:14181 {source="MONDO:equivalentTo"}
xref: ICD10CM:M65.2 {source="MONDO:equivalentTo"}
xref: ICD10CM:M75.3 {source="DOID:14181"}
xref: ICD9:726.11 {source="DOID:14181"}
xref: MEDGEN:636635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:239957000 {source="DOID:14181"}
xref: SCTID:27741009 {source="DOID:14181"}
xref: SCTID:699942000 {source="DOID:14181"}
xref: SCTID:95414005 {source="MONDO:equivalentTo"}
xref: UMLS:C0521515 {source="MEDGEN:636635", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004857 {source="DOID:14181"} ! tendinitis

[Term]
id: MONDO:0001904
name: polyneuropathy due to drug
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14184 {source="MONDO:equivalentTo"}
xref: ICD10CM:G62.0 {source="DOID:14184"}
xref: ICD9:357.6 {source="DOID:14184", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:7339009 {source="DOID:14184", source="MONDO:equivalentTo"}
xref: UMLS:C0154762 {source="MEDGEN:509649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001824 {source="https://orcid.org/0000-0001-5208-3432"} ! polyneuropathy
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14184", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inflammatory and toxic neuropathy

[Term]
id: MONDO:0001905
name: bicipital tenosynovitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14192 {source="MONDO:equivalentTo"}
xref: ICD9:726.12 {source="DOID:14192", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:202840002 {source="DOID:14192"}
xref: SCTID:41137001 {source="DOID:14192", source="MONDO:equivalentTo"}
xref: UMLS:C0158304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510505"}
is_a: MONDO:0004855 {source="DOID:14192"} ! tenosynovitis

[Term]
id: MONDO:0001906
name: posterior dislocation of lens
comment: May be obsoleted as it represents a finding; TODO add HPO class
xref: DOID:14199 {source="MONDO:equivalentTo"}
xref: ICD10CM:H27.13 {source="DOID:14199"}
xref: ICD9:379.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14199"}
xref: MEDGEN:509942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14169000 {source="MONDO:equivalentTo", source="DOID:14199"}
xref: SCTID:194161005 {source="DOID:14199"}
xref: UMLS:C0155373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509942"}
is_a: MONDO:0001176 {source="MONDO:Redundant"} ! lens disorder
is_a: MONDO:0005328 {source="DOID:14199"} ! eye disorder
relationship: disease_has_location UBERON:0000965 ! lens of camera-type eye

[Term]
id: MONDO:0001907
name: adult dermatomyositis
def: "Dermatomyositis in an adult." [NCIT:C27313]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult onset dermatomyositis" EXACT [DOID:14202]
synonym: "dermatomyositis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:14202 {source="MONDO:equivalentTo"}
xref: MEDGEN:66356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27313 {source="MONDO:equivalentTo"}
xref: SCTID:402425006 {source="MONDO:equivalentTo"}
xref: UMLS:C0221056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66356"}
is_a: MONDO:0016367 {source="DOID:14202", source="MONDO:Redundant", source="NCIT:C27313"} ! dermatomyositis
intersection_of: MONDO:0016367 ! dermatomyositis
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0001908
name: obsolete hypophosphatasia
is_obsolete: true
replaced_by: MONDO:0018570

[Term]
id: MONDO:0001909
name: renal tubular acidosis
def: "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets." [MESH:D000141]
subset: gard_rare {source="GARD:7552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:14219 {source="MONDO:equivalentTo"}
xref: GARD:7552 {source="MONDO:GARD"}
xref: ICD10CM:N25.89 {source="DOID:14219"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000141 {source="DOID:14219", source="MONDO:equivalentTo"}
xref: NANDO:2100019 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200144 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C28129 {source="DOID:14219", source="MONDO:otherHierarchy"}
xref: SCTID:1776003 {source="DOID:14219", source="MONDO:equivalentTo"}
xref: UMLS:C0001126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90"}
is_a: MONDO:0006510 {source="DOID:14219", source="MESH:D000141"} ! renal tubular transport disease
intersection_of: MONDO:0006022 ! acidosis disorder
intersection_of: disease_has_location UBERON:0009773 ! renal tubule
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis" xsd:anyURI {source="GARD:0007552"}

[Term]
id: MONDO:0001910
name: ochronosis disorder
def: "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis." [NCIT:P378]
synonym: "ochronosis" EXACT [MONDO:ambiguous]
xref: DOID:14223 {source="MONDO:equivalentTo"}
xref: HP:0030764 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E70.29 {source="DOID:14223"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009794 {source="MONDO:equivalentTo", source="DOID:14223"}
xref: NCIT:C84938 {source="MONDO:equivalentTo", source="DOID:14223"}
xref: SCTID:21924005 {source="DOID:14223"}
xref: SCTID:410042009 {source="MONDO:equivalentTo", source="DOID:14223"}
xref: UMLS:C0028817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45177"}
is_a: MONDO:0003900 {source="DOID:14223", source="MONDO:indirect"} ! connective tissue disorder
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:1901999 ! homogentisate metabolic process
intersection_of: disease_has_feature HP:0030764 ! Ochronosis
intersection_of: disease_has_location UBERON:0002418 ! cartilage tissue

[Term]
id: MONDO:0001911
name: tracheal calcification
def: "Abnormal deposits of calcium in the tracheal tissue." [NCIT:P378]
comment: Editor note: consider ceding to HPO
synonym: "calcification of trachea" EXACT [DOID:14224]
xref: DOID:14224 {source="MONDO:equivalentTo"}
xref: HP:0002787 {source="MONDO:otherHierarchy"}
xref: ICD9:519.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35314 {source="MONDO:otherHierarchy", source="DOID:14224"}
xref: SCTID:81089005 {source="MONDO:equivalentTo", source="DOID:14224"}
xref: UMLS:C0264324 {source="MONDO:equivalentTo", source="MEDGEN:75539", source="MONDO:MEDGEN"}
is_a: MONDO:0002567 {source="DOID:14224"} ! tracheal disorder

[Term]
id: MONDO:0001912
name: acute frontal sinusitis
def: "Acute form of frontal sinusitis." [MONDO:patterns/acute]
synonym: "frontal sinusitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:14225 {source="MONDO:equivalentTo"}
xref: ICD10CM:J01.1 {source="MONDO:equivalentTo", source="DOID:14225"}
xref: ICD10CM:J01.10 {source="DOID:14225"}
xref: ICD9:461.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14225"}
xref: MEDGEN:510087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155500003 {source="DOID:14225"}
xref: SCTID:91038008 {source="MONDO:equivalentTo", source="DOID:14225"}
xref: UMLS:C0155805 {source="MEDGEN:510087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001121 {source="DOID:14225", source="MONDO:Redundant"} ! frontal sinusitis
intersection_of: MONDO:0001121 ! frontal sinusitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001913
name: oligospermia
def: "Decreased number of spermatozoa in the semen." [NCIT:P378]
xref: DOID:14228 {source="MONDO:equivalentTo"}
xref: HP:0000798 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N46.1 {source="DOID:14228"}
xref: ICD10CM:N46.11 {source="DOID:14228"}
xref: ICD9:606.1 {source="DOID:14228"}
xref: MEDGEN:18162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009845 {source="DOID:14228", source="MONDO:equivalentTo"}
xref: NCIT:C34860 {source="DOID:14228", source="MONDO:otherHierarchy"}
xref: UMLS:C0028960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18162"}
is_a: MONDO:0005372 {source="DOID:14228", source="MESH:D009845"} ! male infertility

[Term]
id: MONDO:0001914
name: scleromalacia perforans
def: "A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur." [http://eyewiki.aao.org/Scleritis]
xref: DOID:14230 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.05 {source="DOID:14230"}
xref: ICD9:379.04 {source="DOID:14230", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:26664005 {source="DOID:14230", source="MONDO:equivalentTo"}
xref: UMLS:C0155354 {source="MEDGEN:509929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001269 {source="DOID:14230"} ! scleral disorder
is_a: MONDO:0040699 {source="http://eyewiki.aao.org/Scleritis"} ! necrotizing scleritis

[Term]
id: MONDO:0001915
name: orbital cyst
comment: Divided into cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival) [PMID:15110666]
synonym: "orbit cyst" EXACT []
xref: DOID:14233 {source="MONDO:equivalentTo"}
xref: HP:0001144 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H05.81 {source="DOID:14233"}
xref: ICD9:376.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14233"}
xref: MEDGEN:56359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194033002 {source="DOID:14233"}
xref: SCTID:31021007 {source="MONDO:equivalentTo", source="DOID:14233"}
xref: UMLS:C0155285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56359"}
is_a: MONDO:0004751 {source="DOID:14233"} ! disease of orbital part of eye adnexa

[Term]
id: MONDO:0001916
name: gastrointestinal tularemia
def: "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting." [DOID:14239, http://usgips.com/web/Download/LAMPS%20USCAP2003.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "enteric tularemia" EXACT [DOID:14239, ICD9CM:021.1]
synonym: "intestinal tularaemia" EXACT [DOID:14239]
xref: DOID:14239 {source="MONDO:equivalentTo"}
xref: ICD10CM:A21.3 {source="MONDO:equivalentTo"}
xref: ICD9:021.1 {source="DOID:14239"}
xref: ICD9:021.8 {source="DOID:14239"}
xref: MEDGEN:1684658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111834003 {source="DOID:14239"}
xref: SCTID:186292001 {source="DOID:14239"}
xref: SCTID:186296003 {source="DOID:14239"}
xref: SCTID:186298002 {source="DOID:14239"}
xref: SCTID:186299005 {source="DOID:14239"}
xref: SCTID:398599000 {source="DOID:14239"}
xref: SCTID:62769007 {source="DOID:14239"}
xref: UMLS:C0494039 {source="MEDGEN:1684658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018077 {source="DOID:14239", source="ICD10CM:A21.3"} ! tularemia

[Term]
id: MONDO:0001917
name: chronic perichondritis of pinna
def: "Chronic form of perichondritis of auricle." [MONDO:patterns/chronic]
synonym: "chronic perichondritis of auricle" EXACT [MONDO:design_pattern]
synonym: "chronic pinna perichondritis" EXACT [DOID:14243]
synonym: "perichondritis of auricle, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:14243 {source="MONDO:equivalentTo"}
xref: ICD9:380.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14243"}
xref: MEDGEN:509947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194195009 {source="DOID:14243"}
xref: SCTID:45431004 {source="MONDO:equivalentTo", source="DOID:14243"}
xref: UMLS:C0155391 {source="MEDGEN:509947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002246 {source="DOID:14243", source="MONDO:Redundant"} ! perichondritis of auricle
intersection_of: MONDO:0002246 ! perichondritis of auricle
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001918
name: epiphora due to excess lacrimation
xref: DOID:14244 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.21 {source="DOID:14244"}
xref: ICD9:375.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14244"}
xref: MEDGEN:509861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193984005 {source="DOID:14244"}
xref: SCTID:31788005 {source="MONDO:equivalentTo", source="DOID:14244"}
xref: UMLS:C0155233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509861"}
is_a: MONDO:0001793 {source="DOID:14244"} ! excessive tearing

[Term]
id: MONDO:0001919
name: cystoid macular retinal degeneration
synonym: "cystoid macular degeneration of retina" EXACT [DOID:14245, ICD9CM:362.53]
xref: DOID:14245 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.35 {source="DOID:14245"}
xref: ICD9:362.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14245"}
xref: MEDGEN:472900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14046000 {source="MONDO:equivalentTo", source="DOID:14245"}
xref: UMLS:C0154850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:472900"}
is_a: MONDO:0002175 {source="DOID:14245"} ! degeneration of macula and posterior pole

[Term]
id: MONDO:0001920
name: chronic purulent otitis media
def: "Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane." [NCIT:C128386]
synonym: "chronic suppurative otitis Media" EXACT [NCIT:C128386]
synonym: "chronic suppurative otitis media" EXACT [DOID:14247]
synonym: "CSOM" EXACT ABBREVIATION [NCIT:C128386]
synonym: "suppurative otitis media, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:14247 {source="MONDO:equivalentTo"}
xref: ICD10CM:H66.3 {source="DOID:14247"}
xref: ICD9:382.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14247"}
xref: MEDGEN:543356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128386 {source="MONDO:equivalentTo"}
xref: SCTID:155228005 {source="DOID:14247"}
xref: SCTID:194284006 {source="DOID:14247"}
xref: SCTID:232253005 {source="DOID:14247"}
xref: SCTID:38394007 {source="MONDO:equivalentTo", source="DOID:14247"}
xref: UMLS:C0271454 {source="MEDGEN:543356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005441 {source="DOID:14247/inferred", source="MONDO:Redundant", source="NCIT:C128386"} ! otitis media
is_a: MONDO:0005975 {source="DOID:14247", source="MONDO:Redundant"} ! suppurative otitis media
is_a: MONDO:0021204 {source="MONDO:Redundant"} ! chronic otitis media
intersection_of: MONDO:0005975 ! suppurative otitis media
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001921
name: chronic atticoantral disease
def: "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection." [DOID:14248, http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false]
synonym: "chronic atticoantral suppurative otitis media" EXACT [DOID:14248, ICD9CM:382.2]
xref: DOID:14248 {source="MONDO:equivalentTo"}
xref: ICD10CM:H66.2 {source="DOID:14248"}
xref: ICD10CM:H66.20 {source="DOID:14248"}
xref: ICD9:382.2 {source="DOID:14248"}
xref: MEDGEN:509967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:267759006 {source="MONDO:equivalentTo"}
xref: SCTID:41954005 {source="DOID:14248"}
xref: UMLS:C0155441 {source="MEDGEN:509967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001920 {source="DOID:14248"} ! chronic purulent otitis media
is_a: MONDO:0021204 ! chronic otitis media

[Term]
id: MONDO:0001922
name: pyoureter
def: "An abscess that is located in the ureter." [NCIT:P378]
synonym: "ureter abscess" EXACT [DOID:1425, NCIT:C35666]
xref: DOID:1425 {source="MONDO:equivalentTo"}
xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35666 {source="MONDO:equivalentTo", source="DOID:1425"}
xref: SCTID:266627003 {source="DOID:1425"}
xref: SCTID:85884009 {source="MONDO:equivalentTo", source="DOID:1425"}
xref: UMLS:C0034223 {source="MEDGEN:19600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001926 {source="DOID:1425"} ! ureteral disorder
is_a: MONDO:0005227 {source="NCIT:C35666"} ! abscess

[Term]
id: MONDO:0001923
name: vitreoretinal dystrophy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "vitreoretinal dystrophies" EXACT [DOID:14251, ICD9CM:362.73]
xref: DOID:14251 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.51 {source="MONDO:equivalentTo", source="DOID:14251"}
xref: ICD9:362.73 {source="MONDO:equivalentTo", source="DOID:14251", source="MONDO:i2s"}
xref: MEDGEN:509690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:79556007 {source="MONDO:equivalentTo", source="DOID:14251"}
xref: UMLS:C0154863 {source="MEDGEN:509690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="DOID:14251"} ! inherited retinal dystrophy

[Term]
id: MONDO:0001924
name: dystrophies primarily involving the retinal pigment epithelium
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14252 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.54 {source="DOID:14252", source="MONDO:equivalentTo"}
xref: ICD9:362.76 {source="MONDO:relatedTo", source="DOID:14252"}
xref: MEDGEN:1843460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0154865 {source="MEDGEN:1843460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="DOID:14252"} ! inherited retinal dystrophy
relationship: disease_has_location UBERON:0001782 ! pigmented layer of retina

[Term]
id: MONDO:0001925
name: retinal dystrophy in systemic or cerebroretinal lipidoses
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14253 {source="MONDO:equivalentTo"}
xref: ICD9:362.71 {source="DOID:14253"}
xref: MEDGEN:1843490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0154861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843490"}
is_a: MONDO:0019118 {source="DOID:14253"} ! inherited retinal dystrophy

[Term]
id: MONDO:0001926
name: ureteral disorder
def: "A non-neoplastic or neoplastic disorder affecting the ureter." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of ureter" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ureter" EXACT []
synonym: "disorder of ureter" EXACT [MONDO:patterns/location_top]
synonym: "ureter disease" EXACT [MONDO:patterns/location]
synonym: "ureter disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ureter disorder" EXACT [NCIT:C27148]
synonym: "ureteric disease" EXACT [NCIT:C27148]
synonym: "ureteric disorder" EXACT [NCIT:C27148]
xref: DOID:1426 {source="MONDO:equivalentTo"}
xref: ICD10CM:N25-N29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:98018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014515 {source="MONDO:equivalentTo", source="DOID:1426"}
xref: NCIT:C27148 {source="MONDO:equivalentTo", source="DOID:1426"}
xref: SCTID:128073008 {source="MONDO:equivalentTo"}
xref: UMLS:C0403608 {source="MEDGEN:98018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="DOID:1426", source="MESH:D014515", source="MONDO:Redundant", source="NCIT:C27148"} ! urinary system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0001927
name: pulmonary valve insufficiency
def: "Dysfunction of the pulmonary valve characterized by incomplete valve closure." [NCIT:P378]
synonym: "pulmonary incompetence" EXACT [DOID:14265]
synonym: "pulmonary incompetence, non-rheumatic" EXACT [DOID:14265]
synonym: "pulmonary insufficiency following trauma and surgery" EXACT [DOID:14265]
synonym: "pulmonary regurg." EXACT [DOID:14265]
synonym: "pulmonary regurgitation" EXACT [DOID:14265]
synonym: "pulmonary valve regurgitation" EXACT [NCIT:C50848]
synonym: "pulmonary valvular regurgitation" EXACT [NCIT:C50848]
synonym: "pulmonic insufficiency" EXACT [DOID:14265]
synonym: "pulmonic insufficiency NOS" RELATED EXCLUDE [DOID:14265]
synonym: "pulmonic valve regurgitation" EXACT [DOID:14265]
synonym: "regurgitation, pulmonary" EXACT [NCIT:C50848]
xref: DOID:14265 {source="MONDO:equivalentTo"}
xref: MEDGEN:11031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011665 {source="MONDO:equivalentTo", source="DOID:14265"}
xref: NANDO:2200305 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50848 {source="MONDO:equivalentTo", source="DOID:14265"}
xref: NCIT:C51447 {source="DOID:14265"}
xref: NCIT:C62436 {source="DOID:14265"}
xref: SCTID:194995005 {source="MONDO:equivalentTo"}
xref: SCTID:91434003 {source="DOID:14265"}
xref: UMLS:C0034088 {source="MEDGEN:11031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003628 {source="DOID:14265", source="NCIT:C50848"} ! pulmonary valve disorder

[Term]
id: MONDO:0001928
name: suppurative cholangitis
def: "Cholangitis that is characterized by pyogenic organisms." [NCIT:P378]
synonym: "suppurative cholangitis" EXACT [DOID:14269, NCIT:C35336]
xref: DOID:14269 {source="MONDO:equivalentTo"}
xref: ICD10CM:K83.0 {source="DOID:14269"}
xref: MEDGEN:82766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35336 {source="MONDO:equivalentTo", source="DOID:14269"}
xref: SCTID:197437002 {source="DOID:14269"}
xref: SCTID:69850007 {source="MONDO:equivalentTo", source="DOID:14269"}
xref: UMLS:C0267924 {source="MONDO:equivalentTo", source="MEDGEN:82766", source="MONDO:MEDGEN"}
is_a: MONDO:0004789 {source="DOID:14269", source="NCIT:C35336"} ! cholangitis

[Term]
id: MONDO:0001929
name: ascending cholangitis
def: "Acute infection of the bile ducts caused by bacteria ascending from the small intestine." [NCIT:P378]
synonym: "ascending cholangitis" EXACT [DOID:14270, NCIT:C35372]
xref: DOID:14270 {source="MONDO:equivalentTo"}
xref: ICD10CM:K83.0 {source="DOID:14270"}
xref: MEDGEN:81387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35372 {source="DOID:14270", source="MONDO:equivalentTo"}
xref: SCTID:26918003 {source="DOID:14270", source="MONDO:equivalentTo"}
xref: UMLS:C0311273 {source="MEDGEN:81387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004789 {source="DOID:14270", source="NCIT:C35372"} ! cholangitis

[Term]
id: MONDO:0001930
name: acute cholangitis
def: "Cholangitis that is both sudden in onset and of a relatively short duration." [NCIT:P378]
synonym: "acute cholangitis" EXACT [DOID:14271, NCIT:C35334]
synonym: "cholangitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:14271 {source="MONDO:equivalentTo"}
xref: MEDGEN:82764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35334 {source="DOID:14271", source="MONDO:equivalentTo"}
xref: SCTID:6215006 {source="DOID:14271", source="MONDO:equivalentTo"}
xref: UMLS:C0267917 {source="MEDGEN:82764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004789 {source="DOID:14271", source="MONDO:Redundant", source="NCIT:C35334"} ! cholangitis
intersection_of: MONDO:0004789 ! cholangitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001931
name: pericholangitis
def: "Inflammation of the tissue surrounding the biliary ducts." [NCIT:P378]
xref: DOID:14272 {source="MONDO:equivalentTo"}
xref: MEDGEN:18381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34916 {source="DOID:14272", source="MONDO:equivalentTo"}
xref: SCTID:111373008 {source="DOID:14272", source="MONDO:equivalentTo"}
xref: UMLS:C0031052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18381"}
is_a: MONDO:0004789 {source="DOID:14272"} ! cholangitis
is_a: MONDO:0006322 {source="MONDO:Redundant", source="NCIT:C34916"} ! non-neoplastic bile duct disorder

[Term]
id: MONDO:0001932
name: obsolete atrophic vulva
comment: This is not a true disease, more of a phenotype or process.
synonym: "atrophic vulva" EXACT []
synonym: "atrophic vulvitis" RELATED []
synonym: "atrophy of vulva" EXACT [DOID:14275, ICD9CM:624.1]
xref: DOID:14275 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N90.5 {source="MONDO:obsoleteEquivalent", source="DOID:14275"}
xref: ICD9:624.1 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:14275"}
xref: SCTID:198382004 {source="DOID:14275"}
xref: SCTID:248861000 {source="MONDO:obsoleteEquivalent", source="DOID:14275"}
xref: SCTID:82614005 {source="DOID:14275"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2312" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0001933
name: endocrine pancreas disorder
def: "A disease involving the endocrine pancreas." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of endocrine pancreas" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of endocrine pancreas" EXACT []
synonym: "disorder of endocrine pancreas" EXACT [MONDO:patterns/location_top]
synonym: "disorder of islets of langerhans" RELATED []
synonym: "disorder of pancreatic islets" RELATED []
synonym: "endocrine pancreas disease" EXACT [MONDO:patterns/location, NCIT:C27067]
synonym: "endocrine pancreas disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "endocrine pancreas disorder" EXACT [NCIT:C27067]
xref: DOID:1428 {source="MONDO:equivalentTo"}
xref: ICD10CM:E16 {source="DOID:1428"}
xref: ICD9:251 {source="DOID:1428"}
xref: MEDGEN:124407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27067 {source="MONDO:equivalentTo"}
xref: SCTID:17346000 {source="MONDO:equivalentTo"}
xref: SCTID:190427005 {source="DOID:1428"}
xref: SCTID:190450004 {source="DOID:1428"}
xref: SCTID:237574003 {source="DOID:1428"}
xref: SCTID:267385007 {source="DOID:1428"}
xref: UMLS:C0271633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124407"}
is_a: MONDO:0002356 {source="DOID:1428", source="MONDO:Redundant", source="NCIT:C27067"} ! pancreas disorder
is_a: MONDO:0005151 {source="DOID:1428/inferred", source="MONDO:Redundant", source="NCIT:C27067"} ! endocrine system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000016 ! endocrine pancreas

[Term]
id: MONDO:0001934
name: obsolete primary hypertrophic osteoarthropathy
is_obsolete: true
replaced_by: MONDO:0016620

[Term]
id: MONDO:0001935
name: neurogenic arthropathy
def: "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" [MESH:D001177]
subset: otar {source="MONDO:OTAR"}
synonym: "arthropathy associated with neurological disorder" EXACT [DOID:14286, ICD9CM:713.5]
synonym: "Charcot's arthropathy" EXACT [DOID:14286]
synonym: "Charcot's joint" RELATED [DOID:14286]
synonym: "neuropathic arthropathy" EXACT [DOID:14286]
synonym: "neuropathic arthropathy (& Charcot's)" EXACT [DOID:14286]
xref: DOID:14286 {source="MONDO:equivalentTo"}
xref: EFO:1001378 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M14.6 {source="DOID:14286"}
xref: ICD9:713.5 {source="DOID:14286"}
xref: MEDGEN:13919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001177 {source="MONDO:equivalentTo", source="DOID:14286"}
xref: SCTID:156514009 {source="DOID:14286"}
xref: SCTID:201734004 {source="DOID:14286"}
xref: SCTID:239824003 {source="DOID:14286"}
xref: SCTID:268056006 {source="DOID:14286"}
xref: SCTID:359554008 {source="MONDO:equivalentTo", source="DOID:14286"}
xref: SCTID:60730005 {source="DOID:14286"}
xref: SCTID:67536000 {source="DOID:14286"}
xref: SCTID:77602000 {source="DOID:14286"}
xref: UMLS:C0003892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:13919"}
is_a: MONDO:0006816 {source="DOID:14286", source="EFO:1001378", source="MESH:D001177"} ! arthropathy
relationship: disease_arises_from_feature MONDO:0005071 ! nervous system disorder

[Term]
id: MONDO:0001936
name: brawny scleritis
xref: DOID:14287 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.02 {source="DOID:14287"}
xref: ICD9:379.06 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14287"}
xref: MEDGEN:509931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:91612009 {source="MONDO:equivalentTo", source="DOID:14287"}
xref: UMLS:C0155356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509931"}
is_a: MONDO:0001804 {source="DOID:14287"} ! anterior scleritis

[Term]
id: MONDO:0001937
name: obsolete LEOPARD syndrome
is_obsolete: true
replaced_by: MONDO:0007893

[Term]
id: MONDO:0001938
name: vulvar dystrophy
def: "A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dystrophy of vulva" EXACT [DOID:14292]
xref: DOID:14292 {source="MONDO:equivalentTo"}
xref: ICD10CM:N90.4 {source="DOID:14292"}
xref: ICD9:624.0 {source="DOID:14292", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:624.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34565 {source="DOID:14292", source="MONDO:equivalentTo"}
xref: SCTID:198378001 {source="DOID:14292"}
xref: SCTID:198381006 {source="DOID:14292"}
xref: SCTID:51689003 {source="DOID:14292", source="MONDO:equivalentTo"}
xref: UMLS:C0013426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3942"}
is_a: MONDO:0002187 {source="DOID:14292", source="NCIT:C34565/inferred"} ! vulvar disease

[Term]
id: MONDO:0001939
name: skin epithelioid hemangioma
def: "A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells." [NCIT:C7393]
subset: inferred_rare
subset: rare
synonym: "angiolymphoid cutaneous hyperplasia" EXACT [DOID:14308, NCIT:C7393]
synonym: "angiolymphoid hyperplasia of skin" EXACT [NCIT:C7393]
synonym: "angiolymphoid hyperplasia of the skin" EXACT [NCIT:C7393]
synonym: "epithelioid hemangioma of skin" EXACT [NCIT:C7393]
synonym: "epithelioid hemangioma of the skin" EXACT [NCIT:C7393]
synonym: "histiocytoid hemangioma of skin" EXACT [NCIT:C7393]
synonym: "histiocytoid hemangioma of the skin" EXACT [NCIT:C7393]
synonym: "histiocytoid hemangioma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin epithelioid hemangioma" EXACT [NCIT:C7393]
synonym: "zone of skin histiocytoid hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:14308 {source="MONDO:equivalentTo"}
xref: MEDGEN:297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000796 {source="DOID:14308", source="MONDO:relatedTo"}
xref: NCIT:C7393 {source="DOID:14308", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:254791004 {source="DOID:14308"}
xref: SCTID:400131007 {source="DOID:14308", source="MONDO:equivalentTo"}
xref: UMLS:C0002989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:297"}
is_a: MONDO:0003110 {source="DOID:14308", source="MONDO:Redundant", source="NCIT:C7393"} ! skin hemangioma
is_a: MONDO:0021169 {source="DOID:14308", source="MONDO:Redundant", source="NCIT:C7393"} ! epithelioid hemangioma
intersection_of: MONDO:0021169 ! epithelioid hemangioma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0001940
name: pleuropneumonia
def: "Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura." [MESH:D011001]
xref: DOID:14319 {source="MONDO:equivalentTo"}
xref: MEDGEN:18524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011001 {source="DOID:14319", source="MONDO:equivalentTo"}
xref: SCTID:60485005 {source="DOID:14319", source="MONDO:equivalentTo"}
xref: UMLS:C0032241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18524"}
is_a: MONDO:0000986 {source="DOID:14319", source="MESH:D011001"} ! pleurisy
is_a: MONDO:0005249 {source="DOID:14319", source="MESH:D011001"} ! pneumonia
relationship: disease_has_feature HP:0002090 ! Pneumonia

[Term]
id: MONDO:0001941
name: blindness (disorder)
def: "The lack of vision. It is caused by neurological or physiological factors." [NCIT:C97109]
subset: otar {source="MONDO:OTAR"}
synonym: "blindness" RELATED [DOID:1432]
synonym: "vision impairment" EXACT [DOID:1432]
synonym: "vision loss" EXACT [DOID:1432]
synonym: "visual impairment" EXACT [DOID:1432]
xref: DOID:1432 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53-H54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H54 {source="MONDO:equivalentTo"}
xref: ICD9:369 {source="DOID:1432"}
xref: MEDGEN:99138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001766 {source="MONDO:equivalentTo"}
xref: NCIT:C97109 {source="MONDO:equivalentTo"}
xref: SCTID:105597003 {source="MONDO:equivalentTo"}
xref: SCTID:155146008 {source="DOID:1432"}
xref: SCTID:155150001 {source="DOID:1432"}
xref: SCTID:193698004 {source="DOID:1432"}
xref: SCTID:267729001 {source="DOID:1432"}
xref: UMLS:C0456909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99138"}
is_a: MONDO:0021084 {source="MESH:D001766", source="MONDO:Redundant", source="NCIT:C97109", source="NCIT:C97109/inferred"} ! vision disorder
intersection_of: MONDO:0021084 ! vision disorder
intersection_of: disease_has_major_feature HP:0000618 ! Blindness
relationship: excluded_subClassOf MONDO:0005283 {source="DOID:1432", source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder

[Term]
id: MONDO:0001942
name: generalized anxiety disorder
def: "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "GAD" EXACT ABBREVIATION [NCIT:C92622]
xref: DOID:14320 {source="MONDO:equivalentTo"}
xref: EFO:1001892 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F41.1 {source="MONDO:equivalentTo", source="DOID:14320"}
xref: ICD9:300.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14320"}
xref: MEDGEN:452363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92622 {source="MONDO:equivalentTo", source="DOID:14320"}
xref: SCTID:191706008 {source="DOID:14320"}
xref: SCTID:192401002 {source="DOID:14320"}
xref: SCTID:21897009 {source="MONDO:equivalentTo", source="DOID:14320"}
xref: UMLS:C0270549 {source="MEDGEN:452363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005618 {source="DOID:14320", source="EFO:1001892", source="NCIT:C92622"} ! anxiety disorder
relationship: disease_has_feature HP:0000739 ! Anxiety

[Term]
id: MONDO:0001943
name: Plasmodium malariae malaria
def: "Malaria resulting from infection by Plasmodium malariae." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malaria by Plasmodium malariae" EXACT [DOID:14324]
synonym: "quartan malaria" EXACT [DOID:14324, NCIT:C34799]
xref: DOID:14324 {source="MONDO:equivalentTo"}
xref: ICD10CM:B52 {source="MONDO:equivalentTo", source="DOID:14324"}
xref: ICD10CM:B52.9 {source="DOID:14324"}
xref: ICD9:084.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14324"}
xref: MEDGEN:44259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34799 {source="MONDO:equivalentTo", source="DOID:14324"}
xref: SCTID:27618009 {source="MONDO:equivalentTo", source="DOID:14324"}
xref: UMLS:C0024536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44259"}
is_a: MONDO:0005136 {source="DOID:14324", source="NCIT:C34799"} ! malaria

[Term]
id: MONDO:0001944
name: mixed malaria
def: "A malaria that involves infection with more than one species of Plasmodium at the same time." [DOID:14325, PMID:15105024]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malaria by more than one parasite" EXACT [DOID:14325]
synonym: "malaria fever by more than one parasite" EXACT [DOID:14325]
xref: DOID:14325 {source="MONDO:equivalentTo"}
xref: ICD9:084.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14325"}
xref: MEDGEN:509155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21070001 {source="MONDO:equivalentTo", source="DOID:14325"}
xref: UMLS:C0153121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509155"}
is_a: MONDO:0005136 {source="DOID:14325"} ! malaria

[Term]
id: MONDO:0001945
name: postencephalitic Parkinson disease
def: "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Postencephalitic_parkinsonism]
subset: gard_rare {source="GARD:19370", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97349"}
subset: orphanet_rare {source="Orphanet:97349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "postencephalitic Parkinsonism" EXACT [DOID:14332, NCIT:C34898]
synonym: "postencephalitic parkinsonism" EXACT [DOID:14332, MONDO:0019974]
xref: DOID:14332 {source="MONDO:equivalentTo"}
xref: EFO:1001402 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19370 {source="MONDO:GARD"}
xref: ICD10CM:G21.3 {source="Orphanet:97349", source="DOID:14332", source="Orphanet:97349/e"}
xref: MEDGEN:10591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010301 {source="MONDO:equivalentTo", source="DOID:14332"}
xref: NCIT:C34898 {source="MONDO:equivalentTo", source="DOID:14332"}
xref: Orphanet:97349 {source="MONDO:equivalentTo"}
xref: SCTID:192828004 {source="DOID:14332"}
xref: SCTID:19972008 {source="MONDO:equivalentTo", source="DOID:14332"}
xref: UMLS:C0030568 {source="MEDGEN:10591", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006966 {source="DOID:14332", source="MESH:D010301", source="NCIT:C34898"} ! secondary Parkinson disease
is_a: MONDO:0021095 {source="https://orcid.org/0000-0001-5208-3432"} ! parkinsonian disorder
relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:97349"} ! dementia

[Term]
id: MONDO:0001946
name: obsolete hyperestrogenism
def: "OBSOLETE. Abnormally high level of estrogen." [NCIT:P378]
synonym: "estrogen Excess" RELATED [NCIT:C113344]
synonym: "hyperestrogenism" EXACT [DOID:14336, ICD9CM:256.0]
xref: DOID:14336 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E28.0 {source="MONDO:obsoleteEquivalent", source="DOID:14336"}
xref: ICD10WHO:E28.0 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:256.0 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:14336"}
xref: NANDO:2200379 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C113344 {source="MONDO:otherHierarchy/finding", source="DOID:14336"}
xref: SCTID:190533004 {source="DOID:14336"}
xref: SCTID:37295009 {source="MONDO:obsoleteEquivalent", source="DOID:14336"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: HP:0025132

[Term]
id: MONDO:0001947
name: suppurative thyroiditis
def: "Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis." [MESH:D013969]
subset: otar {source="MONDO:OTAR"}
synonym: "abscess of thyroid" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:4010825, SCTID:102452004]
synonym: "acute suppurative thyroiditis" EXACT [DOID:14350]
synonym: "infectious thyroiditis" EXACT [DOID:14350]
synonym: "suppurative thyroiditis" EXACT [DOID:14350]
xref: DOID:14350 {source="MONDO:equivalentTo"}
xref: EFO:1001431 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E06.0 {source="DOID:14350", source="MONDO:directSiblingOf"}
xref: MEDGEN:21550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013969 {source="MONDO:equivalentTo", source="DOID:14350"}
xref: NCIT:C129724 {source="MONDO:equivalentTo"}
xref: SCTID:25476006 {source="MONDO:equivalentTo", source="DOID:14350"}
xref: SCTID:3511005 {source="DOID:14350"}
xref: UMLS:C0040150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21550"}
is_a: MONDO:0004126 {source="DOID:14350", source="MESH:D013969", source="NCIT:C129724"} ! thyroiditis

[Term]
id: MONDO:0001948
name: obsolete Riedel's fibrosing thyroiditis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2980" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018992

[Term]
id: MONDO:0001949
name: acute thyroiditis
def: "Acute form of thyroiditis (disease)." [MONDO:patterns/acute]
subset: otar {source="MONDO:OTAR"}
synonym: "acute thyroiditis (disease)" EXACT []
synonym: "thyroiditis (disease), acute" EXACT [MONDO:patterns/acute]
xref: DOID:14353 {source="MONDO:equivalentTo"}
xref: ICD10CM:E06.0 {source="MONDO:equivalentTo", source="DOID:14353"}
xref: ICD9:245.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14353"}
xref: MEDGEN:507399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154665005 {source="DOID:14353"}
xref: SCTID:190293001 {source="MONDO:equivalentTo", source="DOID:14353"}
xref: SCTID:190295008 {source="DOID:14353"}
xref: UMLS:C0001360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507399"}
is_a: MONDO:0004126 {source="DOID:14353", source="MONDO:Redundant"} ! thyroiditis
intersection_of: MONDO:0004126 ! thyroiditis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0001950
name: corneal ectasia
xref: DOID:1436 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.71 {source="DOID:1436"}
xref: ICD9:371.71 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1436"}
xref: MEDGEN:509803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14748007 {source="MONDO:equivalentTo", source="DOID:1436"}
xref: UMLS:C0155135 {source="MEDGEN:509803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="DOID:1436"} ! corneal disorder

[Term]
id: MONDO:0001951
name: Norwegian scabies
def: "A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia." [NCIT:P378]
synonym: "crusted scabies" EXACT [DOID:14374]
synonym: "seven year itch" RELATED [GARD:0012151]
xref: DOID:14374 {source="MONDO:equivalentTo"}
xref: MEDGEN:14409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34855 {source="MONDO:equivalentTo", source="DOID:14374"}
xref: SCTID:128870005 {source="MONDO:equivalentTo", source="DOID:14374"}
xref: SCTID:187215008 {source="DOID:14374"}
xref: SCTID:67172004 {source="DOID:14374"}
xref: UMLS:C0028425 {source="MEDGEN:14409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004525 {source="DOID:14374", source="NCIT:C34855"} ! scabies

[Term]
id: MONDO:0001952
name: parietal lobe cancer
def: "A malignant neoplasm involving the parietal lobe" [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of parietal lobe" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of parietal lobe" EXACT [DOID:14384, MONDO:patterns/cancer]
synonym: "malignant parietal lobe neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "parietal lobe cancer" EXACT [MONDO:patterns/location]
synonym: "parietal lobe neoplasm" RELATED [DOID:14384]
synonym: "tumor of parietal lobe" RELATED EXCLUDE [DOID:14384]
synonym: "tumour of parietal lobe" RELATED OMO:0003005 []
xref: DOID:14384 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71.3 {source="DOID:14384", source="MONDO:equivalentTo"}
xref: ICD9:191.3 {source="DOID:14384", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5573 {source="DOID:14384"}
xref: SCTID:126956001 {source="DOID:14384"}
xref: SCTID:363469001 {source="DOID:14384", source="MONDO:equivalentTo"}
xref: SCTID:93946000 {source="DOID:14384"}
xref: UMLS:C0153637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509348"}
is_a: MONDO:0002731 {source="DOID:14384", source="MONDO:Redundant"} ! cerebral hemisphere cancer
is_a: MONDO:0021373 {source="MONDO:Redundant"} ! neoplasm of parietal lobe
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001872 ! parietal lobe

[Term]
id: MONDO:0001953
name: pyuria
def: "The presence of excessive white blood cells in the urine as determined by urinalysis." [NCIT:P378]
synonym: "pus cells in urine" EXACT [DOID:1439]
synonym: "pyuria" EXACT [MONDO:ambiguous]
synonym: "pyuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1439 {source="MONDO:equivalentTo"}
xref: HP:0012085 {source="MONDO:otherHierarchy"}
xref: MEDGEN:11078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011776 {source="MONDO:equivalentTo", source="DOID:1439"}
xref: NCIT:C119028 {source="MONDO:otherHierarchy", source="DOID:1439"}
xref: SCTID:144593007 {source="DOID:1439"}
xref: SCTID:167358001 {source="DOID:1439"}
xref: SCTID:275765006 {source="DOID:1439"}
xref: SCTID:4800001 {source="DOID:1439"}
xref: UMLS:C0034359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11078"}
is_a: MONDO:0002118 {source="DOID:1439", source="MESH:D011776/inferred"} ! urinary system disorder
property_value: IAO:0000589 "pyuria (disease)" xsd:string

[Term]
id: MONDO:0001954
name: thrombophlebitis migrans
def: "A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations." [DOID:14392, http://en.wikipedia.org/wiki/Thrombophlebitis]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:14392 {source="MONDO:equivalentTo"}
xref: ICD10CM:I82.1 {source="DOID:14392", source="MONDO:equivalentTo"}
xref: ICD9:453.1 {source="DOID:14392", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155456002 {source="DOID:14392"}
xref: SCTID:155491005 {source="DOID:14392"}
xref: SCTID:31268005 {source="DOID:14392", source="MONDO:equivalentTo"}
xref: UMLS:C0152250 {source="MEDGEN:508947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002800 {source="DOID:14392"} ! thrombophlebitis

[Term]
id: MONDO:0001955
name: protozoal dysentery
def: "A dysentery that involves protozoan infection." [DOID:14397, http://en.wikipedia.org/wiki/Dysentery]
xref: DOID:14397 {source="MONDO:equivalentTo"}
xref: ICD10CM:A07.8 {source="DOID:14397"}
xref: ICD10CM:B50-B64
xref: ICD9:007.8 {source="DOID:14397"}
xref: MEDGEN:1843396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186127007 {source="DOID:14397"}
xref: SCTID:187279007 {source="DOID:14397"}
xref: UMLS:C2142761 {source="MEDGEN:1843396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001517 {source="DOID:14397", source="MONDO:Entailed", source="MONDO:Redundant"} ! dysentery
is_a: MONDO:0002428 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! protozoa infectious disease
is_a: MONDO:0005550 {source="ICD10CM:B50-B64", source="MONDO:Redundant", source="MONDO:indirect"} ! infectious disease
intersection_of: MONDO:0001517 ! dysentery
intersection_of: MONDO:0002428 ! protozoa infectious disease

[Term]
id: MONDO:0001956
name: capillary leak syndrome
def: "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." [NCIT:P378]
subset: gard_rare {source="GARD:1084", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:188"}
subset: orphanet_rare {source="Orphanet:188"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute vascular leak syndrome" EXACT [NCIT:C62578]
synonym: "AVLS" EXACT ABBREVIATION [NCIT:C62578]
synonym: "capillary hyperpermeability syndrome" EXACT [Orphanet:188]
synonym: "capillary leak syndrome" EXACT [Orphanet:188]
synonym: "capillary leak syndrome with monoclonal gammopathy" RELATED [GARD:0001084]
synonym: "Clarkson disease" EXACT [Orphanet:188]
synonym: "CLS" EXACT ABBREVIATION [NCIT:C62578]
synonym: "idiopathic capillary leak syndrome" EXACT [Orphanet:188]
synonym: "periodic systemic capillary leak syndrome" RELATED [GARD:0001084]
synonym: "SCLS" EXACT ABBREVIATION [Orphanet:188]
synonym: "systemic capillary leak syndrome" EXACT [MONDO:0015996]
xref: DOID:14400 {source="MONDO:equivalentTo"}
xref: EFO:1001284 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:1084 {source="MONDO:GARD"}
xref: ICD10CM:I78.8 {source="Orphanet:188/ntbt", source="Orphanet:188"}
xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10007196 {source="Orphanet:188/e", source="Orphanet:188"}
xref: MEDGEN:137987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019559 {source="Orphanet:188/e", source="MONDO:equivalentTo", source="Orphanet:188", source="DOID:14400"}
xref: NCIT:C62578 {source="MONDO:equivalentTo", source="DOID:14400"}
xref: Orphanet:188 {source="MONDO:equivalentTo"}
xref: SCTID:87730004 {source="MONDO:equivalentTo", source="DOID:14400"}
xref: UMLS:C0343084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137987"}
is_a: MONDO:0001574 {source="DOID:14400"} ! capillary disorder
is_a: MONDO:0002254 {source="NCIT:C62578"} ! syndromic disease

[Term]
id: MONDO:0001957
name: critical illness polyneuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14402 {source="MONDO:equivalentTo"}
xref: ICD10CM:G62.81 {source="MONDO:equivalentTo", source="DOID:14402"}
xref: ICD9:357.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14402"}
xref: MEDGEN:140748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011115 {source="MONDO:relatedTo", source="DOID:14402"}
xref: SCTID:230594005 {source="MONDO:equivalentTo", source="DOID:14402"}
xref: UMLS:C0393851 {source="MEDGEN:140748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001824 {source="https://orcid.org/0000-0001-5208-3432"} ! polyneuropathy
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14402", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inflammatory and toxic neuropathy

[Term]
id: MONDO:0001958
name: obsolete autosomal dominant cerebellar ataxia
is_obsolete: true
replaced_by: MONDO:0020380

[Term]
id: MONDO:0001959
name: labyrinthine bilateral reactive loss
synonym: "bilateral loss of labyrinthine reactivity" EXACT [DOID:14413]
synonym: "loss of labyrinthine reactivity, bilateral" EXACT [DOID:14413, ICD9CM:386.56]
xref: DOID:14413 {source="MONDO:equivalentTo"}
xref: ICD9:386.56 {source="DOID:14413"}
xref: MEDGEN:510006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194377001 {source="MONDO:equivalentTo", source="DOID:14413"}
xref: SCTID:2058001 {source="DOID:14413"}
xref: UMLS:C0155520 {source="MEDGEN:510006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:14413", source="https://github.com/monarch-initiative/mondo/issues/389"} ! inner ear disorder

[Term]
id: MONDO:0001960
name: obsolete Alpers syndrome
is_obsolete: true
replaced_by: MONDO:0008758

[Term]
id: MONDO:0001961
name: obsolete glossopharyngeal neuralgia
is_obsolete: true
replaced_by: MONDO:0016372

[Term]
id: MONDO:0001962
name: abnormality of glucagon secretion
synonym: "glucagon secretion abnormality" EXACT [DOID:14427]
xref: DOID:14427 {source="MONDO:equivalentTo"}
xref: ICD9:251.4 {source="DOID:14427", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:11178005 {source="DOID:14427", source="MONDO:equivalentTo"}
xref: SCTID:190442008 {source="DOID:14427"}
xref: UMLS:C0154191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509540"}
is_a: MONDO:0001933 {source="DOID:14427"} ! endocrine pancreas disorder
relationship: disease_disrupts GO:0070091 ! glucagon secretion

[Term]
id: MONDO:0001963
name: obsolete cerebral degeneration disease
is_obsolete: true
replaced_by: MONDO:0005559

[Term]
id: MONDO:0001964
name: chronic tubotympanic suppurative otitis media
def: "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections." [DOID:14435, http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false]
xref: DOID:14435 {source="MONDO:equivalentTo"}
xref: ICD10CM:H66.1 {source="MONDO:equivalentTo", source="DOID:14435"}
xref: ICD10CM:H66.10 {source="DOID:14435"}
xref: ICD9:382.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14435"}
xref: MEDGEN:509966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:87665008 {source="MONDO:equivalentTo", source="DOID:14435"}
xref: UMLS:C0155440 {source="MEDGEN:509966", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005975 {source="DOID:14435"} ! suppurative otitis media
relationship: disease_has_feature HP:0000405 ! Conductive hearing impairment

[Term]
id: MONDO:0001965
name: sclerosing keratitis
synonym: "sclerokeratitis" EXACT [DOID:14444]
xref: DOID:14444 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.33 {source="DOID:14444"}
xref: ICD9:370.54 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14444"}
xref: MEDGEN:509781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194143001 {source="DOID:14444"}
xref: SCTID:27886001 {source="MONDO:equivalentTo", source="DOID:14444"}
xref: SCTID:417290008 {source="DOID:14444"}
xref: UMLS:C0155090 {source="MEDGEN:509781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001804 {source="DOID:14444"} ! anterior scleritis
is_a: MONDO:0004903 {source="DOID:14444"} ! deep keratitis

[Term]
id: MONDO:0001966
name: chronic closed-angle glaucoma
def: "Chronic form of angle-closure glaucoma." [MONDO:patterns/chronic]
synonym: "anatomical narrow angle glaucoma" EXACT [DOID:14445, MTH:NOCODE]
synonym: "angle-closure glaucoma, chronic" EXACT [MONDO:patterns/chronic]
synonym: "chronic angle-closure glaucoma" EXACT [DOID:14445, ICD9CM:365.23]
synonym: "chronic narrow angle glaucoma" EXACT [DOID:14445]
xref: DOID:14445 {source="MONDO:equivalentTo"}
xref: ICD10CM:H40.22 {source="DOID:14445"}
xref: ICD9:365.23 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14445"}
xref: MEDGEN:509736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:15417005 {source="DOID:14445"}
xref: SCTID:314542007 {source="DOID:14445"}
xref: SCTID:33647009 {source="MONDO:equivalentTo", source="DOID:14445"}
xref: UMLS:C0154947 {source="MEDGEN:509736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001868 {source="DOID:14445"} ! primary angle-closure glaucoma
intersection_of: MONDO:0001744 ! angle-closure glaucoma
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0001967
name: gonadal dysgenesis
def: "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics." [NCIT:C61420]
subset: gard_rare {source="GARD:2538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gonadal dysgenesis syndrome" EXACT [DOID:14447]
xref: DOID:14447 {source="MONDO:equivalentTo"}
xref: GARD:2538 {source="MONDO:GARD"}
xref: ICD9:758.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14447"}
xref: MEDGEN:9075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006059 {source="MONDO:equivalentTo", source="DOID:14447"}
xref: NCIT:C61420 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14447"}
xref: SCTID:157020008 {source="DOID:14447"}
xref: SCTID:205681004 {source="MONDO:equivalentTo", source="DOID:14447"}
xref: SCTID:205692003 {source="DOID:14447"}
xref: SCTID:205695001 {source="DOID:14447"}
xref: SCTID:268356004 {source="DOID:14447"}
xref: SCTID:38804009 {source="DOID:14447"}
xref: UMLS:C0018051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9075"}
is_a: MONDO:0002146 {source="DOID:14447"} ! hypogonadism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis" xsd:anyURI {source="GARD:0002538"}

[Term]
id: MONDO:0001968
name: obsolete 46 XY gonadal dysgenesis
is_obsolete: true
replaced_by: MONDO:0010765

[Term]
id: MONDO:0001969
name: mixed gonadal dysgenesis
def: "A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution." [MESH:D006060]
subset: gard_rare {source="GARD:2539", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "gonadal dysgenesis mixed" RELATED [GARD:0002539]
xref: DOID:14449 {source="MONDO:equivalentTo"}
xref: GARD:2539 {source="MONDO:GARD"}
xref: MEDGEN:6654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006060 {source="DOID:14449", source="MONDO:equivalentTo"}
xref: NANDO:2200388 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:205682006 {source="DOID:14449"}
xref: SCTID:83579008 {source="DOID:14449", source="MONDO:equivalentTo"}
xref: UMLS:C0018055 {source="MEDGEN:6654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019499 {source="DOID:14449"} ! Turner syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed" xsd:anyURI {source="GARD:0002539"}

[Term]
id: MONDO:0001970
name: obsolete hypokalemic periodic paralysis
is_obsolete: true
replaced_by: MONDO:0008223

[Term]
id: MONDO:0001971
name: farmer's lung disease
def: "Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs." [NCIT:P378]
subset: gard_rare {source="GARD:6427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99906"}
subset: orphanet_rare {source="Orphanet:99906"}
subset: rare
synonym: "farmer lung" EXACT [DOID:14453]
synonym: "farmer's lung" EXACT [MONDO:0020534]
synonym: "Farmers lung" EXACT [DOID:14453]
xref: DOID:14453 {source="MONDO:equivalentTo"}
xref: GARD:6427 {source="MONDO:GARD"}
xref: ICD10CM:J67.0 {source="Orphanet:99906/e", source="Orphanet:99906", source="DOID:14453"}
xref: icd11.foundation:666590509 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99906"}
xref: ICD9:495.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14453"}
xref: MedDRA:10016221 {source="Orphanet:99906/e", source="Orphanet:99906"}
xref: MEDGEN:8785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005203 {source="Orphanet:99906/e", source="Orphanet:99906", source="DOID:14453"}
xref: NCIT:C34605 {source="MONDO:equivalentTo", source="DOID:14453"}
xref: Orphanet:99906 {source="MONDO:equivalentTo"}
xref: SCTID:155581001 {source="DOID:14453"}
xref: SCTID:18690003 {source="MONDO:equivalentTo", source="DOID:14453"}
xref: SCTID:266399001 {source="DOID:14453"}
xref: UMLS:C0015634 {source="MEDGEN:8785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017853 {source="DOID:14453", source="MONDO:Redundant"} ! hypersensitivity pneumonitis
is_a: MONDO:0043905 {source="NCIT:C34605", source="https://orcid.org/0000-0001-5208-3432"} ! pneumonitis
is_a: MONDO:0100366 {source="https://orcid.org/0000-0001-5208-3432"} ! occupational disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6427/farmers-lung" xsd:anyURI {source="GARD:0006427"}

[Term]
id: MONDO:0001972
name: Brucella melitensis brucellosis
def: "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain." [DOID:14456, http://www.bmj.com/cgi/reprint/1/5644/612.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14456 {source="MONDO:equivalentTo"}
xref: ICD10CM:A23.0 {source="DOID:14456"}
xref: ICD9:023.0 {source="DOID:14456"}
xref: MEDGEN:549869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186305007 {source="DOID:14456"}
xref: SCTID:30789005 {source="DOID:14456"}
xref: SCTID:427999003 {source="MONDO:equivalentTo", source="DOID:14456"}
xref: UMLS:C0302362 {source="MONDO:equivalentTo", source="MEDGEN:549869", source="MONDO:MEDGEN"}
is_a: MONDO:0005683 {source="DOID:14456"} ! brucellosis
relationship: disease_has_feature HP:0003418 ! Back pain
relationship: disease_has_feature HP:0009763 ! Limb pain

[Term]
id: MONDO:0001973
name: Brucella abortus brucellosis
def: "A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia." [DOID:14457]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14457 {source="MONDO:equivalentTo"}
xref: ICD10CM:A23.1 {source="DOID:14457"}
xref: ICD9:023.1 {source="DOID:14457"}
xref: MEDGEN:81294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002007 {source="MONDO:directSiblingOf", source="DOID:14457"}
xref: SCTID:186306008 {source="DOID:14457"}
xref: SCTID:427795000 {source="MONDO:equivalentTo", source="DOID:14457"}
xref: SCTID:9060000 {source="DOID:14457"}
xref: UMLS:C0302363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:81294"}
is_a: MONDO:0005683 {source="DOID:14457"} ! brucellosis
intersection_of: MONDO:0005683 ! brucellosis
intersection_of: disease_has_infectious_agent NCBITaxon:235 ! Brucella abortus
relationship: disease_has_feature HP:0001824 ! Weight loss
relationship: disease_has_feature HP:0002829 ! Arthralgia

[Term]
id: MONDO:0001974
name: hemangioma of orbit
def: "A hemangioma arising from the orbit." [NCIT:P378]
synonym: "angioma of orbit" EXACT [NCIT:C6245]
synonym: "angioma of the orbit" EXACT [DOID:14459, NCIT:C6245]
synonym: "hemangioma of the orbit" EXACT [NCIT:C6245]
synonym: "orbit angioma" EXACT [NCIT:C6245]
synonym: "orbit hemangioma" EXACT [NCIT:C6245]
xref: DOID:14459 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:233268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6245 {source="DOID:14459", source="MONDO:equivalentTo"}
xref: SCTID:121951000119101 {source="DOID:14459", source="MONDO:equivalentTo"}
xref: UMLS:C1335128 {source="MEDGEN:233268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:14459", source="NCIT:C6245"} ! hemangioma

[Term]
id: MONDO:0001975
name: cavernous hemangioma of orbit
def: "A cavernous hemangioma arising from the orbit." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cavernous angioma of orbit" EXACT [DOID:14463, NCIT:C4546]
synonym: "cavernous angioma of the orbit" EXACT [NCIT:C4546]
synonym: "cavernous hemangioma of the orbit" EXACT [NCIT:C4546]
synonym: "orbit cavernous angioma" EXACT [NCIT:C4546]
synonym: "orbit cavernous hemangioma" EXACT [NCIT:C4546]
xref: DOID:14463 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4546 {source="MONDO:equivalentTo", source="DOID:14463"}
xref: SCTID:254998002 {source="MONDO:equivalentTo", source="DOID:14463"}
xref: UMLS:C0346352 {source="MEDGEN:138059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003155 {source="DOID:14463", source="NCIT:C4546"} ! cavernous hemangioma

[Term]
id: MONDO:0001976
name: chorea gravidarum
def: "A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" [MESH:D020150]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:14483 {source="MONDO:equivalentTo"}
xref: ICD9:646.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020150 {source="DOID:14483", source="MONDO:equivalentTo"}
xref: SCTID:25113000 {source="DOID:14483", source="MONDO:equivalentTo"}
xref: UMLS:C0264746 {source="MEDGEN:75545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001595 {source="DOID:14483", source="MONDO:Redundant"} ! choreatic disease
intersection_of: MONDO:0001595 ! choreatic disease
intersection_of: MONDO:0024575 ! pregnancy disorder

[Term]
id: MONDO:0001977
name: ureteral lymphoma
def: "A lymphoma that involves the ureter." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoma of the ureter" EXACT [NCIT:C6175]
synonym: "lymphoma of ureter" EXACT [DOID:14489, NCIT:C6175]
synonym: "primary ureter lymphoma" EXACT [NCIT:C6175]
synonym: "ureter lymphoma" EXACT [MONDO:patterns/location, NCIT:C6175]
synonym: "ureteral lymphoma" EXACT [DOID:14489, NCIT:C6175]
xref: DOID:14489 {source="MONDO:equivalentTo"}
xref: MEDGEN:234458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6175 {source="MONDO:equivalentTo", source="DOID:14489"}
xref: UMLS:C1336876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234458"}
is_a: MONDO:0005062 {source="DOID:14489", source="MONDO:Redundant", source="NCIT:C6175/inferred"} ! lymphoma
is_a: MONDO:0008627 {source="DOID:14489", source="NCIT:C6175"} ! ureter cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0001978
name: regional ureteric cancer
def: "Carcinoma of the ureter without spread to any other region." [NCIT:P378]
synonym: "regional malignant ureteral tumor" EXACT [DOID:14491, NCIT:C8716]
synonym: "regional malignant ureteral tumour" EXACT OMO:0003005 []
synonym: "regional ureter carcinoma" EXACT [NCIT:C9356]
synonym: "regional ureteric carcinoma" EXACT [DOID:14491, NCIT:C9356]
xref: DOID:14491 {source="MONDO:equivalentTo"}
xref: MEDGEN:167733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8716 {source="DOID:14491"}
xref: NCIT:C9356 {source="DOID:14491", source="MONDO:equivalentTo"}
xref: UMLS:C0854921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167733"}
is_a: MONDO:0006481 {source="DOID:14491", source="NCIT:C9356"} ! ureter carcinoma

[Term]
id: MONDO:0001979
name: dumping syndrome
def: "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dumping (jejunal) syndrome" EXACT [DOID:14495]
synonym: "jejunal syndrome" EXACT [DOID:14495]
xref: DOID:14495 {source="MONDO:equivalentTo"}
xref: EFO:1001307 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K91.1 {source="DOID:14495"}
xref: MEDGEN:8501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004377 {source="MONDO:equivalentTo", source="DOID:14495"}
xref: NCIT:C2994 {source="MONDO:equivalentTo", source="DOID:14495"}
xref: SCTID:155785007 {source="DOID:14495"}
xref: SCTID:197128007 {source="DOID:14495"}
xref: SCTID:266458008 {source="DOID:14495"}
xref: SCTID:266527005 {source="DOID:14495"}
xref: SCTID:80193009 {source="DOID:14495"}
xref: UMLS:C0013288 {source="MEDGEN:8501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C2994"} ! syndromic disease
is_a: MONDO:0004566 {source="DOID:14495", source="MESH:D004377"} ! postgastrectomy syndrome
relationship: disease_has_feature HP:0001943 {source="MONDO:Wikidata"} ! Hypoglycemia

[Term]
id: MONDO:0001980
name: obsolete Wolman disease
is_obsolete: true
replaced_by: MONDO:0019148

[Term]
id: MONDO:0001981
name: obsolete cholesterol ester storage disease
is_obsolete: true
replaced_by: MONDO:0019149

[Term]
id: MONDO:0001982
name: Niemann-Pick disease
def: "A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell." [Wikipedia:Niemann%E2%80%93Pick_disease]
subset: gard_rare {source="GARD:13334", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lipoid histiocytosis" EXACT [DOID:14504]
synonym: "lipoid histiocytosis (classical phosphatide)" EXACT [DOID:14504]
synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT [DOID:14504]
synonym: "Niemann-Pick disease, subacute juvenile form" EXACT [DOID:14504]
synonym: "sphingomyelin lipidosis" EXACT [DOID:14504]
synonym: "sphingomyelin/cholesterol lipidosis" EXACT [NCIT:C61269]
synonym: "sphingomyelinase deficiency disease" EXACT [DOID:14504]
synonym: "type A Niemann-Pick disease" NARROW [DOID:14504]
xref: DOID:14504 {source="MONDO:equivalentTo"}
xref: EFO:1001380 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13334 {source="MONDO:GARD"}
xref: ICD10CM:E75.24 {source="DOID:14504"}
xref: ICD10CM:E75.242 {source="DOID:14504"}
xref: ICD10CM:E75.249 {source="DOID:14504"}
xref: MEDGEN:10348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009542 {source="DOID:14504", source="MONDO:equivalentTo"}
xref: MESH:D052556 {source="DOID:14504"}
xref: NANDO:2200561 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61269 {source="DOID:14504", source="MONDO:equivalentTo"}
xref: NCIT:C85214 {source="DOID:14504"}
xref: SCTID:58459009 {source="DOID:14504", source="MONDO:equivalentTo"}
xref: SCTID:66751000 {source="DOID:14504"}
xref: UMLS:C0028064 {source="MEDGEN:10348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="DOID:14504/inferred", source="MESH:D009542/inferred", source="MONDO:Redundant", source="NCIT:C61269"} ! lysosomal storage disease
is_a: MONDO:0015531 {source="DOID:14504", source="MESH:D009542"} ! non-Langerhans cell histiocytosis
is_a: MONDO:0019245 {source="DOID:14504/inferred", source="MESH:D009542/inferred"} ! lysosomal lipid storage disorder
is_a: MONDO:0019255 {source="DOID:14504", source="MESH:D009542", source="NCIT:C61269"} ! sphingolipidosis

[Term]
id: MONDO:0001983
name: peripheral degeneration of cornea
synonym: "peripheral degenerations of cornea" EXACT [DOID:14507, ICD9CM:371.48]
xref: DOID:14507 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.46 {source="DOID:14507"}
xref: ICD9:371.48 {source="DOID:14507", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:89182000 {source="DOID:14507", source="MONDO:equivalentTo"}
xref: UMLS:C0155123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509800"}
is_a: MONDO:0001515 {source="DOID:14507"} ! corneal degeneration

[Term]
id: MONDO:0001984
name: candidal paronychia
def: "A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." [DOID:14512, http://emedicine.medscape.com/article/1090632-overview, http://www.doctorfungus.org/mycoses/human/Candida/Cutaneous_general.htm]
synonym: "candidiasis of skin" EXACT [DOID:14512]
synonym: "candidiasis of skin and nails" EXACT [DOID:14512]
xref: DOID:14512 {source="MONDO:equivalentTo"}
xref: ICD10CM:B37.2 {source="DOID:14512"}
xref: ICD9:112.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14512"}
xref: MEDGEN:705794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187014000 {source="MONDO:equivalentTo", source="DOID:14512"}
xref: SCTID:187018002 {source="DOID:14512"}
xref: UMLS:C1282977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:705794"}
is_a: MONDO:0002026 {source="DOID:14512"} ! candidiasis

[Term]
id: MONDO:0001985
name: partial arterial retinal occlusion
def: "A partial occlusion of the retinal artery." [NCIT:C35192]
synonym: "partial retinal arterial occlusion" EXACT [DOID:14522, ICD9CM:362.33, NCIT:C35192]
synonym: "retinal partial arterial occlusion" EXACT [DOID:14522]
xref: DOID:14522 {source="MONDO:equivalentTo"}
xref: ICD10CM:H34.21 {source="DOID:14522"}
xref: ICD10CM:H34.219 {source="DOID:14522"}
xref: ICD9:362.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14522"}
xref: MEDGEN:57599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35192 {source="MONDO:equivalentTo", source="DOID:14522"}
xref: SCTID:193376004 {source="DOID:14522"}
xref: SCTID:776009 {source="MONDO:equivalentTo", source="DOID:14522"}
xref: UMLS:C0154839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57599"}
is_a: MONDO:0006948 {source="DOID:14522", source="NCIT:C35192"} ! retinal artery occlusion

[Term]
id: MONDO:0001986
name: Argyll Robertson pupil
synonym: "Argyll Robertson phenomenon or pupil, nonsyphilitic" EXACT [DOID:14523]
synonym: "Argyll Robertson pupil, atypical" EXACT [DOID:14523, ICD9CM:379.45]
synonym: "atypical Argyll-Robertson pupil" EXACT [DOID:14523]
xref: DOID:14523 {source="MONDO:equivalentTo"}
xref: ICD10CM:H57.01 {source="MONDO:equivalentTo", source="DOID:14523"}
xref: ICD9:379.45 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14523"}
xref: MEDGEN:536150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21011008 {source="MONDO:equivalentTo", source="DOID:14523"}
xref: UMLS:C0234668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536150"}
is_a: MONDO:0001303 {source="DOID:14523"} ! abnormal pupillary function

[Term]
id: MONDO:0001987
name: senile degeneration of brain
synonym: "Senile brain degen." EXACT [DOID:14524]
xref: DOID:14524 {source="MONDO:equivalentTo"}
xref: ICD9:331.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14524"}
xref: MEDGEN:509626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154995000 {source="DOID:14524"}
xref: SCTID:154996004 {source="DOID:14524"}
xref: SCTID:192804001 {source="DOID:14524"}
xref: SCTID:267687006 {source="DOID:14524"}
xref: SCTID:45864009 {source="MONDO:equivalentTo", source="DOID:14524"}
xref: UMLS:C0154669 {source="MEDGEN:509626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="DOID:14524"} ! neurodegenerative disease

[Term]
id: MONDO:0001988
name: external pathological resorption
xref: DOID:14529 {source="MONDO:equivalentTo"}
xref: ICD10CM:K03.3 {source="DOID:14529"}
xref: ICD9:521.42 {source="DOID:14529"}
xref: MEDGEN:540236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:41918006 {source="DOID:14529", source="MONDO:equivalentTo"}
xref: SCTID:43079004 {source="DOID:14529"}
xref: UMLS:C0266878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540236"}
is_a: MONDO:0001670 {source="DOID:14529"} ! tooth resorption

[Term]
id: MONDO:0001989
name: atrophic glossitis
subset: otar {source="MONDO:OTAR"}
synonym: "atrophy of tongue papillae" EXACT [DOID:1453]
synonym: "glossitis, Hunter's" EXACT [DOID:1453]
synonym: "Hunter's glossitis" EXACT [DOID:1453]
synonym: "smooth atrophic tongue" EXACT [DOID:1453]
xref: DOID:1453 {source="MONDO:equivalentTo"}
xref: ICD10CM:K14.4 {source="DOID:1453", source="MONDO:equivalentTo"}
xref: ICD9:529.4 {source="DOID:1453", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196585008 {source="DOID:1453"}
xref: SCTID:196586009 {source="DOID:1453"}
xref: SCTID:196588005 {source="DOID:1453"}
xref: SCTID:196589002 {source="DOID:1453"}
xref: SCTID:50644009 {source="DOID:1453"}
xref: SCTID:69279006 {source="DOID:1453"}
xref: SCTID:9491003 {source="DOID:1453", source="MONDO:equivalentTo"}
xref: UMLS:C0155964 {source="MEDGEN:510156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006771 {source="DOID:1453"} ! glossitis

[Term]
id: MONDO:0001990
name: malignant cardiac peripheral nerve sheath neoplasm
def: "A very rare malignant peripheral nerve sheath tumor that arises from the heart." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cardiac malignant peripheral nerve sheath tumor" EXACT [NCIT:C5367]
synonym: "Cardiac malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "Cardiac MPNST" EXACT [NCIT:C5367]
synonym: "CARDIAC schwannoma, malignant" EXACT [NCIT:C5367]
synonym: "heart malignant peripheral nerve sheath tumor" EXACT [NCIT:C5367]
synonym: "heart malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "heart MPNST" EXACT [NCIT:C5367]
synonym: "malignant Cardiac neurilemmoma" EXACT [NCIT:C5367]
synonym: "malignant Cardiac peripheral nerve sheath neoplasm" EXACT [NCIT:C5367]
synonym: "malignant Cardiac peripheral nerve sheath tumor" EXACT [NCIT:C5367]
synonym: "malignant Cardiac peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "malignant Cardiac schwannoma" EXACT [NCIT:C5367]
synonym: "malignant heart neurilemmoma" EXACT [NCIT:C5367]
synonym: "malignant heart peripheral nerve sheath neoplasm" EXACT [NCIT:C5367]
synonym: "malignant heart peripheral nerve sheath tumor" EXACT [NCIT:C5367]
synonym: "malignant heart peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "malignant heart schwannoma" EXACT [NCIT:C5367]
synonym: "malignant neurilemmoma of heart" EXACT [NCIT:C5367]
synonym: "malignant neurilemmoma of the heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath neoplasm of heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath neoplasm of the heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath tumor of heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath tumor of the heart" EXACT [NCIT:C5367]
synonym: "malignant peripheral nerve sheath tumour of heart" EXACT OMO:0003005 []
synonym: "malignant peripheral nerve sheath tumour of the heart" EXACT OMO:0003005 []
synonym: "malignant schwannoma of heart" EXACT [NCIT:C5367]
synonym: "malignant schwannoma of the heart" EXACT [NCIT:C5367]
synonym: "MPNST of heart" EXACT [DOID:14534, NCIT:C5367]
synonym: "MPNST of the heart" EXACT [NCIT:C5367]
xref: DOID:14534 {source="MONDO:equivalentTo"}
xref: MEDGEN:233146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5367 {source="MONDO:equivalentTo", source="DOID:14534"}
xref: UMLS:C1334569 {source="MONDO:equivalentTo", source="MEDGEN:233146", source="MONDO:MEDGEN"}
is_a: MONDO:0001340 {source="MONDO:Redundant", source="NCIT:C5367", source="NCIT:C5367/inferred"} ! heart cancer
is_a: MONDO:0017827 {source="DOID:14534", source="NCIT:C5367"} ! malignant peripheral nerve sheath tumor

[Term]
id: MONDO:0001991
name: malignant cardiac germ cell tumor
def: "A rare malignant germ cell tumor that arises from the pericardium." [NCIT:C5371]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant Cardiac germ cell neoplasm" EXACT [NCIT:C5371]
synonym: "malignant Cardiac germ cell tumor" EXACT [NCIT:C5371]
synonym: "malignant Cardiac germ cell tumour" EXACT OMO:0003005 []
synonym: "malignant germ cell neoplasm of heart" EXACT [NCIT:C5371]
synonym: "malignant germ cell neoplasm of the heart" EXACT [NCIT:C5371]
synonym: "malignant germ cell tumor of heart" EXACT [NCIT:C5371]
synonym: "malignant germ cell tumor of the heart" EXACT [DOID:14535, NCIT:C5371]
synonym: "malignant germ cell tumour of heart" EXACT OMO:0003005 []
synonym: "malignant germ cell tumour of the heart" EXACT OMO:0003005 []
synonym: "malignant heart germ cell neoplasm" EXACT [NCIT:C5371]
synonym: "malignant heart germ cell tumor" EXACT [NCIT:C5371]
synonym: "malignant heart germ cell tumour" EXACT OMO:0003005 []
xref: DOID:14535 {source="MONDO:equivalentTo"}
xref: MEDGEN:233143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5371 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14535"}
xref: UMLS:C1334566 {source="MEDGEN:233143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001340 {source="DOID:14535", source="MONDO:Redundant", source="NCIT:C5371"} ! heart cancer
intersection_of: MONDO:0006290 ! malignant germ cell tumor
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0001992
name: rete testis adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the rete testis" [https://orcid.org/0000-0002-6601-2165]
synonym: "adenocarcinoma of rete testis" EXACT [DOID:14544, NCIT:C8955]
synonym: "adenocarcinoma of the rete testis" EXACT [DOID:14544, NCIT:C8955]
synonym: "carcinoma, rete testis, malignant" EXACT [NCIT:C8955]
synonym: "rete testis adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C8955]
xref: DOID:14544 {source="MONDO:equivalentTo"}
xref: MEDGEN:209023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8955 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14544"}
xref: UMLS:C0863024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209023"}
is_a: MONDO:0003562 {source="DOID:14544", source="MONDO:Redundant", source="NCIT:C8955"} ! rete testis neoplasm
is_a: MONDO:0004970 {source="DOID:14544", source="MONDO:Redundant", source="NCIT:C8955"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0003959 ! rete testis

[Term]
id: MONDO:0001993
name: seminal vesicle adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the seminal vesicle" [https://orcid.org/0000-0002-6601-2165]
synonym: "seminal vesicle adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C39906]
xref: DOID:14545 {source="MONDO:equivalentTo"}
xref: MEDGEN:311271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39906 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14545"}
xref: UMLS:C1519233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:311271"}
is_a: MONDO:0002790 {source="MONDO:Redundant", source="NCIT:C39906"} ! seminal vesicle tumor
is_a: MONDO:0004970 {source="DOID:14545", source="MONDO:Redundant", source="NCIT:C39906"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000998 ! seminal vesicle

[Term]
id: MONDO:0001994
name: sphenoidal sinus cancer
def: "A malignant neoplasm involving the sphenoidal sinus." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cancer of sphenoidal sinus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sphenoid sinus" EXACT [NCIT:C3543]
synonym: "malignant neoplasm of sphenoidal sinus" EXACT [MONDO:patterns/cancer, NCIT:C3543]
synonym: "malignant neoplasm of the sphenoid sinus" EXACT [NCIT:C3543]
synonym: "malignant neoplasm of the sphenoidal sinus" EXACT [NCIT:C3543]
synonym: "malignant sphenoid sinus neoplasm" EXACT [NCIT:C3543]
synonym: "malignant sphenoid sinus tumor" EXACT [NCIT:C3543]
synonym: "malignant sphenoid sinus tumour" EXACT OMO:0003005 []
synonym: "malignant sphenoidal sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3543]
synonym: "malignant sphenoidal sinus tumor" EXACT [NCIT:C3543]
synonym: "malignant sphenoidal sinus tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of sphenoid sinus" EXACT [NCIT:C3543]
synonym: "malignant tumor of sphenoidal sinus" EXACT [DOID:14546, NCIT:C3543]
synonym: "malignant tumor of the sphenoid sinus" EXACT [NCIT:C3543]
synonym: "malignant tumor of the sphenoidal sinus" EXACT [NCIT:C3543]
synonym: "malignant tumour of sphenoid sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of sphenoidal sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the sphenoid sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the sphenoidal sinus" EXACT OMO:0003005 []
synonym: "sphenoidal sinus cancer" EXACT [MONDO:patterns/location]
xref: DOID:14546 {source="MONDO:equivalentTo"}
xref: ICD10CM:C31.3 {source="MONDO:equivalentTo", source="DOID:14546"}
xref: ICD9:160.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14546"}
xref: MEDGEN:102273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3543 {source="MONDO:equivalentTo", source="DOID:14546"}
xref: SCTID:363428005 {source="MONDO:equivalentTo", source="DOID:14546"}
xref: SCTID:94067008 {source="DOID:14546"}
xref: UMLS:C0153479 {source="MEDGEN:102273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000380 {source="DOID:14546", source="MONDO:Entailed"} ! paranasal sinus carcinoma
is_a: MONDO:0004047 {source="MONDO:Redundant", source="NCIT:C3543"} ! sphenoidal sinus neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus

[Term]
id: MONDO:0001995
name: sphenoid sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:C6066]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermoid carcinoma of sphenoid sinus" EXACT [NCIT:C6066]
synonym: "epidermoid carcinoma of sphenoidal sinus" EXACT [NCIT:C6066]
synonym: "epidermoid carcinoma of the sphenoid sinus" EXACT [NCIT:C6066]
synonym: "epidermoid carcinoma of the sphenoidal sinus" EXACT [DOID:14547, NCIT:C6066]
synonym: "sphenoid sinus epidermoid carcinoma" EXACT [NCIT:C6066]
synonym: "sphenoid sinus squamous cell carcinoma" EXACT [NCIT:C6066]
synonym: "sphenoidal sinus epidermoid carcinoma" EXACT [NCIT:C6066]
synonym: "sphenoidal sinus squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6066]
synonym: "squamous cell carcinoma of sphenoid sinus" EXACT [NCIT:C6066]
synonym: "squamous cell carcinoma of sphenoidal sinus" EXACT [NCIT:C6066]
synonym: "squamous cell carcinoma of the sphenoid sinus" EXACT [NCIT:C6066]
synonym: "squamous cell carcinoma of the sphenoidal sinus" EXACT [NCIT:C6066]
xref: DOID:14547 {source="MONDO:equivalentTo"}
xref: MEDGEN:234802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6066 {source="DOID:14547", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:707355002 {source="MONDO:equivalentTo"}
xref: UMLS:C1336039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234802"}
is_a: MONDO:0001994 {source="DOID:14547", source="MONDO:Redundant", source="NCIT:C6066"} ! sphenoidal sinus cancer
is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6066/inferred"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus

[Term]
id: MONDO:0001996
name: steroid-induced glaucoma - borderline
synonym: "borderline glaucoma steroid responder" EXACT [DOID:14548]
synonym: "steroid responders borderline glaucoma" EXACT [DOID:14548, ICD9CM:365.03]
xref: DOID:14548 {source="MONDO:equivalentTo"}
xref: ICD9:365.03 {source="DOID:14548", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:573233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193535007 {source="DOID:14548"}
xref: SCTID:302895007 {source="DOID:14548", source="MONDO:equivalentTo"}
xref: UMLS:C0339572 {source="MONDO:equivalentTo", source="MEDGEN:573233", source="MONDO:MEDGEN"}
is_a: MONDO:0004744 {source="DOID:14548"} ! borderline glaucoma

[Term]
id: MONDO:0001997
name: root resorption
def: "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)" [MESH:D012391]
xref: DOID:14550 {source="MONDO:equivalentTo"}
xref: MEDGEN:11268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012391 {source="MONDO:equivalentTo", source="DOID:14550"}
xref: UMLS:C0035851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11268"}
is_a: MONDO:0001670 {source="DOID:14550", source="MESH:D012391"} ! tooth resorption

[Term]
id: MONDO:0001998
name: Foster-Kennedy syndrome
def: "An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye." [PMID:35892442]
subset: otar {source="MONDO:OTAR"}
xref: DOID:14555 {source="MONDO:equivalentTo"}
xref: EFO:1001330 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H47.14 {source="DOID:14555"}
xref: ICD9:377.04 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14555"}
xref: MEDGEN:57505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009901 {source="DOID:14555"}
xref: SCTID:87764000 {source="MONDO:equivalentTo", source="DOID:14555"}
xref: UMLS:C0152112 {source="MEDGEN:57505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="PMID:35892442"} ! eye disorder
relationship: excluded_subClassOf MONDO:0002003 {source="DOID:14555", source="https://orcid.org/0000-0002-3458-4839"} ! obsolete papilledema

[Term]
id: MONDO:0001999
name: primary pulmonary hypertension
def: "Increased blood pressure in the arteries of the lungs; the etiology is unknown." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "primary pulmonary hypertension" EXACT CLINGEN_LABEL []
synonym: "pulmonary hypertension, primary" EXACT [OMIMPS:178600]
xref: DOID:14557 {source="MONDO:equivalentTo"}
xref: ICD10CM:I27.0 {source="MONDO:equivalentTo", source="DOID:14557"}
xref: ICD9:416.0 {source="DOID:14557"}
xref: MEDGEN:57749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97119 {source="MONDO:otherHierarchy", source="DOID:14557"}
xref: Orphanet:422 {source="DOID:14557"}
xref: SCTID:155328008 {source="DOID:14557"}
xref: SCTID:26174007 {source="DOID:14557"}
xref: SCTID:266293003 {source="DOID:14557"}
xref: UMLS:C0152171 {source="MEDGEN:57749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001493 {source="DOID:14557"} ! chronic pulmonary heart disease

[Term]
id: MONDO:0002000
name: anaerobic meningitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningitis caused by anaerobic bacteria" EXACT [MONDO:0024404]
synonym: "meningitis due to anaerobic bacteria" EXACT []
xref: DOID:14559 {source="MONDO:equivalentTo"}
xref: ICD9:320.81 {source="DOID:14559", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:678523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:445059005 {source="MONDO:equivalentTo"}
xref: UMLS:C0854214 {source="MEDGEN:678523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006670 {source="DOID:14559", source="MONDO:Redundant"} ! bacterial meningitis
is_a: MONDO:0024389 {source="MONDO:Redundant"} ! anaerobic bacteria infectious disease
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease

[Term]
id: MONDO:0002001
name: obsolete disease of cellular proliferation
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0002002
name: postsurgical hypothyroidism
synonym: "post-surgical hypothyroidism" EXACT [DOID:1458]
synonym: "postoperative hypothyroidism" EXACT [DOID:1458]
xref: DOID:1458 {source="MONDO:equivalentTo"}
xref: ICD10CM:E89.0 {source="DOID:1458"}
xref: ICD9:244.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1458"}
xref: MEDGEN:509534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154662008 {source="DOID:1458"}
xref: SCTID:190275002 {source="DOID:1458"}
xref: SCTID:27059002 {source="MONDO:equivalentTo", source="DOID:1458"}
xref: UMLS:C0154157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509534"}
is_a: MONDO:0005420 {source="DOID:1458"} ! hypothyroidism

[Term]
id: MONDO:0002003
name: obsolete papilledema
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:10565 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"}
xref: UMLS:C0030353 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN", source="MEDGEN:10565"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7279" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006879

[Term]
id: MONDO:0002004
name: atheroembolism of kidney
def: "A cholesterol embolism that involves the kidney." [MONDO:patterns/location]
synonym: "cholesterol embolism of kidney" EXACT [MONDO:design_pattern]
synonym: "kidney cholesterol embolism" EXACT [MONDO:patterns/location]
xref: DOID:1460 {source="MONDO:equivalentTo"}
xref: ICD10CM:I75.81 {source="MONDO:equivalentTo"}
xref: MEDGEN:541484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0268792 {source="MEDGEN:541484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:1460", source="MONDO:Entailed", source="MONDO:Redundant"} ! kidney disorder
is_a: MONDO:0005568 {source="DOID:1460", source="MONDO:Entailed", source="MONDO:Redundant"} ! cholesterol embolism
intersection_of: MONDO:0005568 ! cholesterol embolism
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0002005
name: obsolete acrodysostosis
is_obsolete: true
replaced_by: MONDO:0019797

[Term]
id: MONDO:0002006
name: serous labyrinthitis
def: "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections." [DOID:1467, http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false]
synonym: "acute serous labyrinthitis" EXACT [DOID:1467]
xref: DOID:1467 {source="MONDO:equivalentTo"}
xref: ICD9:386.31 {source="DOID:1467", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:41674001 {source="DOID:1467", source="MONDO:equivalentTo"}
xref: UMLS:C0155504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509993"}
is_a: MONDO:0002008 {source="DOID:1467", source="DOID:1467/inferred"} ! labyrinthitis

[Term]
id: MONDO:0002007
name: obsolete VACTERL association
is_obsolete: true
replaced_by: MONDO:0008642

[Term]
id: MONDO:0002008
name: labyrinthitis
def: "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication." [NCIT:C128369, Wikipedia:Labyrinthitis]
comment: Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case.
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of internal ear" EXACT []
synonym: "inner ear infection" RELATED [DOID:3930]
synonym: "internal ear inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "otitis interna" EXACT [Wikipedia:Labyrinthitis]
xref: DOID:1468 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:3930 {source="MONDO:equivalentTo"}
xref: EFO:0009604 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H83.0 {source="MONDO:equivalentTo", source="DOID:1468"}
xref: ICD10CM:H83.09 {source="DOID:1468"}
xref: ICD9:386.3 {source="DOID:1468"}
xref: ICD9:386.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1468"}
xref: MEDGEN:5991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007762 {source="MONDO:equivalentTo", source="DOID:1468"}
xref: NCIT:C128369 {source="MONDO:equivalentTo"}
xref: SCTID:155239008 {source="DOID:1468"}
xref: SCTID:194363004 {source="DOID:1468"}
xref: SCTID:194367003 {source="DOID:1468"}
xref: SCTID:23919004 {source="MONDO:equivalentTo", source="DOID:1468"}
xref: UMLS:C0022893 {source="MEDGEN:5991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:1468/inferred", source="DOID:3930", source="ICD10CM:H83.0/inferred", source="MESH:D007762", source="MONDO:Redundant", source="NCIT:C128369"} ! inner ear disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001846 ! internal ear
relationship: excluded_subClassOf MONDO:0002812 {source="DOID:1468", source="https://orcid.org/0000-0001-5208-3432"} ! infectious otitis interna

[Term]
id: MONDO:0002009
name: major depressive disorder
def: "An episode of depression lasting two or more weeks without an intervening episode of mania." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "major depression" EXACT [NCIT:C35094]
synonym: "major depressive disorder" EXACT [NCIT:C35094]
synonym: "major depressive disorder 1" BROAD [OMIM:608516, OMIM:genemap2]
synonym: "major depressive disorder 2" BROAD [OMIM:608516, OMIM:genemap2]
synonym: "major depressive disorder and accelerated response to antidepressant drug treatment" EXACT [OMIM:608516, OMIM:genemap2]
synonym: "major depressive disorder, response to citalopram therapy in" EXACT [OMIM:608516, OMIM:genemap2]
synonym: "recurrent major depression" EXACT [DOID:1470]
synonym: "single major depressive episode" EXACT [DOID:1470]
synonym: "unipolar depression" EXACT [MONDO:0005263]
synonym: "unipolar depression, susceptibility to" EXACT [OMIM:608516, OMIM:genemap2]
xref: DOID:1470 {source="MONDO:equivalentTo", xref="EFO:0003761"}
xref: DOID:2848 {source="EFO:0003761", source="MONDO:directSiblingOf"}
xref: EFO:0003761 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F32 {source="DOID:1470"}
xref: ICD10CM:F32.9 {source="DOID:1470"}
xref: ICD10CM:F33 {source="DOID:1470"}
xref: ICD10CM:F33.9 {source="DOID:1470"}
xref: ICD9:296.2 {source="DOID:1470"}
xref: ICD9:296.20 {source="DOID:1470"}
xref: ICD9:296.3 {source="DOID:1470"}
xref: ICD9:296.30 {source="DOID:1470"}
xref: MEDGEN:266123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003863 {source="EFO:0003761"}
xref: MESH:D003865 {source="EFO:0003761", source="MONDO:equivalentTo", source="DOID:1470"}
xref: MESH:D003866 {source="EFO:0003761"}
xref: MFOMD:0000143
xref: NCIT:C34796 {source="MONDO:otherHierarchy", source="DOID:1470"}
xref: NCIT:C35094 {source="EFO:0003761", source="MONDO:equivalentTo"}
xref: OMIM:608516 {source="EFO:0003761", source="MONDO:equivalentTo"}
xref: SCTID:191599006 {source="DOID:1470"}
xref: SCTID:191600009 {source="DOID:1470"}
xref: SCTID:191607007 {source="DOID:1470"}
xref: SCTID:191608002 {source="DOID:1470"}
xref: SCTID:191609005 {source="DOID:1470"}
xref: SCTID:191617002 {source="DOID:1470"}
xref: SCTID:192366006 {source="DOID:1470"}
xref: SCTID:268620009 {source="DOID:1470"}
xref: SCTID:268621008 {source="DOID:1470"}
xref: SCTID:300706003 {source="EFO:0003761", source="MONDO:directSiblingOf"}
xref: SCTID:321717001 {source="EFO:0003761"}
xref: SCTID:35489007 {source="EFO:0003761"}
xref: SCTID:36923009 {source="DOID:1470"}
xref: SCTID:370143000 {source="EFO:0003761", source="MONDO:equivalentTo"}
xref: SCTID:66344007 {source="DOID:1470"}
xref: UMLS:C1269683 {source="MEDGEN:266123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002050 {source="DOID:1470", source="MESH:D003865", source="NCIT:C35094"} ! depressive disorder
is_a: MONDO:0005084 {source="EFO:0003761", source="EFO:0003761/inferred"} ! mental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0002010
name: FG syndrome
def: "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential." [GARD:0002317]
subset: otar {source="MONDO:OTAR"}
synonym: "FGS" RELATED ABBREVIATION [GARD:0002317]
synonym: "FGS1" NARROW ABBREVIATION [GARD:0002317]
synonym: "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [GARD:0002317]
synonym: "Keller syndrome" EXACT [DOID:14711]
synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED DEPRECATED [GARD:0002317]
synonym: "Opitz-Kaveggia syndrome" NARROW [DOID:14711, GARD:0002317]
xref: DOID:14711 {source="MONDO:equivalentTo"}
xref: EFO:0009297 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:113106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537923 {source="DOID:14711"}
xref: OMIMPS:305450 {source="MONDO:equivalentTo"}
xref: Orphanet:323 {source="MONDO:equivalentObsolete", source="GARD:0002317", source="DOID:14711"}
xref: SCTID:49984004 {source="MONDO:equivalentTo", source="DOID:14711"}
xref: UMLS:C0220769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113106"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:305450"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome" xsd:anyURI {source="GARD:0002317"}

[Term]
id: MONDO:0002011
name: obsolete hereditary angioedema
is_obsolete: true
replaced_by: MONDO:0019623

[Term]
id: MONDO:0002012
name: methylmalonic acidemia
def: "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." [NCIT:C98986]
subset: gard_rare {source="GARD:7033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "methylmalonic acidemia, cblA type" NARROW [DOID:14749]
synonym: "methylmalonic acidemia, cblB type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria" EXACT [DOID:14749]
synonym: "methylmalonic aciduria cblB type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" NARROW [DOID:14749]
synonym: "methylmalonic aciduria mut type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria type cblA" NARROW [DOID:14749]
synonym: "methylmalonic aciduria type cblB" NARROW [DOID:14749]
synonym: "methylmalonic aciduria, mut type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" NARROW [DOID:14749]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" NARROW [DOID:14749]
synonym: "METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency" NARROW [DOID:14749]
synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A" NARROW [DOID:14749]
synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B" NARROW [DOID:14749]
xref: DOID:14749 {source="MONDO:equivalentTo"}
xref: GARD:7033 {source="MONDO:GARD"}
xref: ICD10CM:E71.120 {source="MONDO:equivalentTo"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537358 {source="MONDO:equivalentTo"}
xref: NANDO:1200793 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200491 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98986 {source="MONDO:equivalentTo"}
xref: SCTID:42393006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120654"}
is_a: MONDO:0000688 {source="DOID:14749"} ! inborn organic aciduria
is_a: MONDO:0019052 {source="DOID:14749/inferred", source="MONDO:Redundant", source="NCIT:C98986"} ! inborn errors of metabolism

[Term]
id: MONDO:0002013
name: lymphangioma
def: "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation." [NCIT:C8965]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: lymphatic malformation-
subset: disease_grouping
subset: gard_rare {source="GARD:9789", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:2415"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign lymphangioma" EXACT [DOID:1475]
synonym: "benign lymphangioma (morphologic abnormality)" EXACT [DOID:1475]
synonym: "congenital lymphangioma" NARROW [DOID:1475]
synonym: "LM" RELATED ABBREVIATION [Orphanet:2415]
synonym: "lymphangioma" EXACT [NCIT:C8965, Orphanet:2415]
synonym: "lymphangioma, benign" EXACT [NCIT:C8965]
xref: DOID:1475 {source="MONDO:equivalentTo"}
xref: GARD:9789 {source="MONDO:GARD"}
xref: ICD10CM:D18.1 {source="DOID:1475", source="Orphanet:2415", source="Orphanet:2415/e"}
xref: ICD9:228.1 {source="DOID:1475", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9170/0 {source="NCIT:C8965"}
xref: MEDGEN:6153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008202 {source="DOID:1475", source="MONDO:equivalentTo"}
xref: NANDO:2201032 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8965 {source="DOID:1475", source="MONDO:equivalentTo"}
xref: Orphanet:2415 {source="MONDO:equivalentTo"}
xref: SCTID:154625006 {source="DOID:1475"}
xref: SCTID:189200000 {source="DOID:1475"}
xref: SCTID:189875000 {source="DOID:1475"}
xref: SCTID:253057002 {source="DOID:1475"}
xref: SCTID:254836000 {source="DOID:1475", source="MONDO:equivalentTo"}
xref: SCTID:269646001 {source="DOID:1475"}
xref: SCTID:400178008 {source="DOID:1475", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:69044001 {source="DOID:1475"}
xref: SCTID:93168006 {source="DOID:1475"}
xref: UMLS:C0024221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6153"}
is_a: MONDO:0005165 {source="DOID:1475", source="DOID:1475/inferred", source="MONDO:Redundant"} ! benign neoplasm
relationship: disease_arises_from_structure CL:0002138 ! endothelial cell of lymphatic vessel
relationship: disease_has_location UBERON:0001473 ! lymphatic vessel
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6769" xsd:anyURI
property_value: IAO:0006012 "2024-02-02" xsd:string

[Term]
id: MONDO:0002014
name: autosomal recessive Ehlers-Danlos syndrome, vascular type
def: "The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." [https://www.ncbi.nlm.nih.gov/books/NBK1494/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069/, MONDO:pr]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive type IV Ehlers-Danlos syndrome" EXACT []
synonym: "Ehlers-Danlos syndrome, recessive type 4" EXACT [DOID:14759]
synonym: "Ehlers-Danlos syndrome, vascular type, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:14759 {source="MONDO:equivalentTo"}
xref: MEDGEN:541287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:70610001 {source="DOID:14759", source="MONDO:equivalentTo"}
xref: UMLS:C0268340 {source="MEDGEN:541287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017314 {source="MONDO:Redundant", source="MONDO:pr", source="https://www.ncbi.nlm.nih.gov/books/NBK1494/"} ! Ehlers-Danlos syndrome, vascular type
intersection_of: MONDO:0017314 ! Ehlers-Danlos syndrome, vascular type
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0002015
name: obsolete brittle cornea syndrome
is_obsolete: true
replaced_by: MONDO:0009242

[Term]
id: MONDO:0002016
name: obsolete benign familial neonatal epilepsy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7140" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016027

[Term]
id: MONDO:0002017
name: olivopontocerebellar atrophy
def: "A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives." [NCIT:P378]
synonym: "Dejerine-Thomas syndrome" EXACT [DOID:14784]
synonym: "OPCA" RELATED ABBREVIATION [GARD:0007250]
synonym: "Thomas' syndrome" RELATED AMBIGUOUS [DOID:14784]
synonym: "WADIA-swami syndrome" EXACT [DOID:14784]
xref: DOID:14784 {source="MONDO:equivalentTo"}
xref: ICD10CM:G23.8 {source="DOID:14784"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009849 {source="MONDO:equivalentTo", source="DOID:14784"}
xref: NCIT:C84947 {source="MONDO:equivalentTo", source="DOID:14784"}
xref: SCTID:192834006 {source="DOID:14784"}
xref: SCTID:37250002 {source="DOID:14784"}
xref: SCTID:67761004 {source="MONDO:equivalentTo", source="DOID:14784"}
xref: UMLS:C0028968 {source="MEDGEN:10435", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="DOID:14784", source="MESH:D009849/inferred"} ! neurodegenerative disease
relationship: disease_shares_features_of MONDO:0000437 ! cerebellar ataxia

[Term]
id: MONDO:0002018
name: obsolete Leber congenital amaurosis
is_obsolete: true
replaced_by: MONDO:0018998

[Term]
id: MONDO:0002019
name: obsolete hypohidrotic ectodermal dysplasia
is_obsolete: true
replaced_by: MONDO:0016535

[Term]
id: MONDO:0002020
name: obsolete Blount disease
synonym: "obsolete Blount's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0017194

[Term]
id: MONDO:0002021
name: gingival disorder
def: "A disease involving the gingiva." [MONDO:patterns/location_top]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of gingiva" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of gingiva" EXACT []
synonym: "disorder of gingiva" EXACT [MONDO:patterns/location_top]
synonym: "gingiva disease" EXACT [MONDO:patterns/location]
synonym: "gingiva disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1483 {source="MONDO:equivalentTo"}
xref: EFO:0009670 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:42217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005882 {source="DOID:1483", source="MONDO:equivalentTo"}
xref: NCIT:C173795 {source="MONDO:equivalentTo"}
xref: SCTID:155642009 {source="DOID:1483"}
xref: SCTID:18718003 {source="DOID:1483", source="MONDO:equivalentTo"}
xref: SCTID:266489007 {source="DOID:1483"}
xref: UMLS:C0017563 {source="MEDGEN:42217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002635 {source="DOID:1483", source="MESH:D005882"} ! periodontal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001828 ! gingiva

[Term]
id: MONDO:0002022
name: disorder of orbital region
def: "A disease that involves the orbital region." [MONDO:patterns/location]
synonym: "disease of orbital region" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of orbital region" EXACT []
synonym: "disorder of eye region" EXACT []
synonym: "disorder of orbital region" EXACT [MONDO:patterns/location_top]
synonym: "eye and adnexa disease" RELATED [DOID:1492]
synonym: "ophthalmological disorder" RELATED []
synonym: "orbital region disease" EXACT [MONDO:design_pattern]
synonym: "orbital region disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1492 {source="MONDO:equivalentObsolete"}
xref: ICD10CM:H00-H05 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H00-H59 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.00 {source="DOID:1492"}
xref: ICD9:362.10 {source="DOID:1492"}
xref: MEDGEN:5092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193355009 {source="DOID:1492"}
xref: SCTID:31411005 {source="DOID:1492"}
xref: SCTID:371409005 {source="MONDO:equivalentTo"}
xref: SCTID:42873008 {source="DOID:1492"}
xref: UMLS:C0015397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5092"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0004088 ! orbital region
relationship: excluded_subClassOf MONDO:0005128 {source="DOID:1492", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete sensory system disease

[Term]
id: MONDO:0002023
name: obsolete cystic echinococcosis
is_obsolete: true
replaced_by: MONDO:0018408

[Term]
id: MONDO:0002024
name: obsolete cholera
is_obsolete: true
replaced_by: MONDO:0015766

[Term]
id: MONDO:0002025
name: psychiatric disorder
def: "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia." [NCIT:C2893]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of mental health" NARROW [DOID:150]
synonym: "mental disorder" NARROW [NCIT:C2893]
synonym: "mental dysfunction" NARROW [NCIT:C2893]
synonym: "mental illness" NARROW [NCIT:C2893]
synonym: "Psychiatric disease" EXACT [NCIT:C2893]
synonym: "Psychiatric disorder" EXACT [NCIT:C2893]
xref: DOID:150 {source="MONDO:equivalentTo"}
xref: ICD10CM:F01-F99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F40-F48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F99 {source="DOID:150"}
xref: ICD10CM:F99-F99 {source="DOID:150"}
xref: MESH:D001523 {source="DOID:150", source="MONDO:equivalentTo"}
xref: MFOMD:0000004
xref: NCIT:C2893 {source="DOID:150", source="MONDO:equivalentTo"}
xref: SCTID:154843007 {source="DOID:150"}
xref: SCTID:154971002 {source="DOID:150"}
xref: SCTID:154972009 {source="DOID:150"}
xref: SCTID:154980002 {source="DOID:150"}
xref: SCTID:192637001 {source="DOID:150"}
xref: SCTID:192639003 {source="DOID:150"}
xref: SCTID:74732009 {source="MONDO:relatedTo", source="DOID:150"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_disrupts MF:0000020 ! mental process
relationship: excluded_subClassOf MONDO:0005071 {source="ISBN-13:978-1-259-64403-0", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder

[Term]
id: MONDO:0002026
name: candidiasis
def: "Infection with the organism Candida." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Candida <Debaryomycetaceae> infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Candida infection" EXACT [NCIT:C26711]
synonym: "Candidosis" EXACT [NCIT:C26711]
synonym: "disseminated candidiasis" NARROW [DOID:1508, ICD9CM:112.5]
synonym: "infections, Candida <Debaryomycetaceae>" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "systemic candidiasis" NARROW [DOID:1508]
synonym: "thrush" EXACT [NCIT:C26711]
xref: DOID:1508 {source="MONDO:equivalentTo"}
xref: ICD10CM:B37 {source="MONDO:equivalentTo", source="DOID:1508"}
xref: ICD10CM:B37.9 {source="DOID:1508"}
xref: ICD9:112 {source="DOID:1508"}
xref: ICD9:112.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:112.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1508"}
xref: MEDGEN:14299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002177 {source="MONDO:equivalentTo", source="DOID:1508"}
xref: NCIT:C26711 {source="MONDO:equivalentTo", source="DOID:1508"}
xref: SCTID:154403005 {source="DOID:1508"}
xref: SCTID:187005005 {source="DOID:1508"}
xref: SCTID:187024008 {source="DOID:1508"}
xref: SCTID:187478002 {source="DOID:1508"}
xref: SCTID:78048006 {source="MONDO:equivalentTo", source="DOID:1508"}
xref: UMLS:C0006840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14299"}
is_a: MONDO:0002041 {source="DOID:1508/inferred", source="ICD10CM:B37", source="MESH:D002177", source="MONDO:Redundant", source="NCIT:C26711"} ! fungal infectious disease
is_a: MONDO:0002312 {source="DOID:1508", source="MONDO:Redundant"} ! opportunistic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5475 ! Candida
relationship: has_characteristic MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious

[Term]
id: MONDO:0002027
name: avoidant personality disorder
def: "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection." [NCIT:P378]
synonym: "anxious personality disorder" EXACT [DOID:1509]
xref: DOID:1509 {source="MONDO:equivalentTo"}
xref: ICD10CM:F60.6 {source="DOID:1509", source="MONDO:equivalentTo"}
xref: ICD9:301.82 {source="DOID:1509"}
xref: MEDGEN:13985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010554 {source="DOID:1509"}
xref: NCIT:C92636 {source="DOID:1509", source="MONDO:equivalentTo"}
xref: SCTID:191771004 {source="DOID:1509"}
xref: SCTID:231528008 {source="MONDO:equivalentTo"}
xref: SCTID:37746008 {source="DOID:1509"}
xref: UMLS:C0004444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:13985"}
is_a: MONDO:0002028 {source="DOID:1509", source="NCIT:C92636"} ! personality disorder

[Term]
id: MONDO:0002028
name: personality disorder
def: "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work." [NCIT:C34922]
subset: otar {source="MONDO:OTAR"}
synonym: "character disorder" EXACT [DOID:1510]
synonym: "personality disorder" EXACT [MONDO:ambiguous]
synonym: "personality disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1510 {source="MONDO:equivalentTo"}
xref: HP:0012075 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F20-F29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F60-F69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:301.8 {source="DOID:1510"}
xref: ICD9:301.89 {source="MONDO:relatedTo", source="DOID:1510", source="MONDO:i2s"}
xref: ICD9:301.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:45827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34922 {source="MONDO:equivalentTo"}
xref: SCTID:191770003 {source="DOID:1510"}
xref: SCTID:191776009 {source="DOID:1510"}
xref: SCTID:268635005 {source="DOID:1510"}
xref: SCTID:268759009 {source="DOID:1510"}
xref: SCTID:33449004 {source="MONDO:equivalentTo"}
xref: UMLS:C0031212 {source="MEDGEN:45827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="DOID:1510", source="NCIT:C34922"} ! psychiatric disorder
property_value: IAO:0000589 "personality disorder (disease)" xsd:string

[Term]
id: MONDO:0002029
name: chronic gonorrhea of cervix
def: "Chronic form of gonococcal cervicitis." [MONDO:patterns/chronic]
synonym: "chronic gonococcal cervicitis" EXACT [DOID:1512]
synonym: "gonococcal cervicitis, chronic" EXACT [DOID:1512, ICD9CM:098.35, MONDO:patterns/chronic]
xref: DOID:1512 {source="MONDO:equivalentTo"}
xref: ICD9:098.35 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1512"}
xref: MEDGEN:509203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:76802005 {source="MONDO:equivalentTo", source="DOID:1512"}
xref: UMLS:C0153206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509203"}
is_a: MONDO:0002030 {source="DOID:1512", source="MONDO:Redundant"} ! chronic cervicitis
is_a: MONDO:0021157 {source="MONDO:Redundant"} ! gonococcal cervicitis
intersection_of: MONDO:0021157 ! gonococcal cervicitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0002030
name: chronic cervicitis
def: "Chronic inflammation of the cervix." [NCIT:P378]
synonym: "cervicitis (disease), chronic" EXACT [MONDO:patterns/chronic]
synonym: "chronic cervicitis (disease)" EXACT []
xref: DOID:1513 {source="MONDO:equivalentTo"}
xref: MEDGEN:75711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27057 {source="MONDO:equivalentTo", source="DOID:1513"}
xref: SCTID:198210003 {source="DOID:1513"}
xref: SCTID:56728002 {source="MONDO:equivalentTo", source="DOID:1513"}
xref: UMLS:C0269062 {source="MEDGEN:75711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002345 {source="DOID:1513", source="MONDO:Redundant", source="NCIT:C27057"} ! cervicitis
intersection_of: MONDO:0002345 ! cervicitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0002031
name: cecal disorder
def: "Pathological developments in the cecum." [MESH:D002429]
synonym: "caecum disease" EXACT [MONDO:patterns/location]
synonym: "caecum disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of caecum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of caecum" EXACT []
synonym: "disorder of caecum" EXACT [MONDO:patterns/location_top]
xref: DOID:1518 {source="MONDO:equivalentTo"}
xref: MEDGEN:2921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002429 {source="MONDO:equivalentTo", source="DOID:1518"}
xref: SCTID:128525008 {source="MONDO:equivalentTo", source="DOID:1518"}
xref: UMLS:C0007527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2921"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0002032
name: colon carcinoma
def: "A carcinoma that arises from epithelial cells of the colon" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of colon" EXACT [DOID:1520, MONDO:patterns/carcinoma, MTH:191, NCIT:C4910]
synonym: "carcinoma of the colon" EXACT [NCIT:C4910]
synonym: "colon cancer" BROAD [NCIT:C4910]
synonym: "colon carcinoma" EXACT [MONDO:patterns/location, NCIT:C4910]
synonym: "colonic carcinoma" EXACT [DOID:1520, NCIT:C4910]
xref: DOID:1520 {source="MONDO:equivalentTo"}
xref: EFO:1001950 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:147065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4910 {source="DOID:1520", source="MONDO:equivalentTo"}
xref: SCTID:154454005 {source="DOID:1520"}
xref: SCTID:269533000 {source="DOID:1520", source="MONDO:equivalentTo"}
xref: UMLS:C0699790 {source="MEDGEN:147065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C4910/inferred"} ! digestive system carcinoma
is_a: MONDO:0021063 {source="DOID:1520", source="MONDO:Redundant", source="NCIT:C4910"} ! malignant colon neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0002033
name: cecum cancer
def: "A malignant neoplasm involving the caecum" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "caecum cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of caecum" EXACT [MONDO:patterns/cancer]
synonym: "malignant caecum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant cecum neoplasm" EXACT [NCIT:C9329]
synonym: "malignant cecum tumor" EXACT [NCIT:C9329]
synonym: "malignant cecum tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of caecum" EXACT [DOID:1521, MONDO:patterns/cancer]
synonym: "malignant neoplasm of cecum" EXACT [NCIT:C9329]
synonym: "malignant neoplasm of the cecum" EXACT [NCIT:C9329]
synonym: "malignant tumor of cecum" EXACT [NCIT:C9329]
synonym: "malignant tumor of the cecum" EXACT [DOID:1521, NCIT:C9329]
synonym: "malignant tumour of cecum" EXACT OMO:0003005 []
synonym: "malignant tumour of the cecum" EXACT OMO:0003005 []
xref: DOID:1521 {source="MONDO:equivalentTo"}
xref: ICD10CM:C18.0 {source="DOID:1521"}
xref: ICD9:153.4 {source="DOID:1521"}
xref: MEDGEN:57557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002430 {source="DOID:1521"}
xref: NCIT:C9329 {source="MONDO:equivalentTo", source="DOID:1521"}
xref: SCTID:154459000 {source="DOID:1521"}
xref: SCTID:187756005 {source="DOID:1521"}
xref: SCTID:269538009 {source="DOID:1521"}
xref: SCTID:363350007 {source="DOID:1521"}
xref: SCTID:93736007 {source="DOID:1521"}
xref: UMLS:C0153437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57557"}
is_a: MONDO:0005694 {source="MONDO:Redundant", source="NCIT:C9329"} ! cecal neoplasm
is_a: MONDO:0021063 {source="MONDO:Redundant", source="NCIT:C9329"} ! malignant colon neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0002034
name: cecum lymphoma
def: "An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C5515]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "caecum lymphoma" EXACT [MONDO:patterns/location]
synonym: "cecal lymphoma" EXACT [DOID:1522, NCIT:C5515]
synonym: "cecum lymphoma" EXACT [NCIT:C5515]
synonym: "lymphoma of caecum" EXACT [MONDO:design_pattern]
synonym: "lymphoma of cecum" EXACT [NCIT:C5515]
synonym: "lymphoma of the cecum" EXACT [NCIT:C5515]
synonym: "primary cecum lymphoma" EXACT [NCIT:C5515]
xref: DOID:1522 {source="MONDO:equivalentTo"}
xref: MEDGEN:232035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5515 {source="DOID:1522", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332867 {source="MONDO:equivalentTo", source="MEDGEN:232035", source="MONDO:MEDGEN"}
is_a: MONDO:0002033 {source="DOID:1522", source="MONDO:Redundant", source="NCIT:C5515"} ! cecum cancer
is_a: MONDO:0002035 {source="MONDO:Redundant", source="NCIT:C5515"} ! colon lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0002035
name: colon lymphoma
def: "An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C4793]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "colon lymphoma" EXACT [MONDO:patterns/location, NCIT:C4793]
synonym: "colonic lymphoma" EXACT [DOID:1523, NCIT:C4793]
synonym: "lymphoma of colon" EXACT [NCIT:C4793]
synonym: "lymphoma of the colon" EXACT [NCIT:C4793]
synonym: "primary colon lymphoma" EXACT [NCIT:C4793]
xref: DOID:1523 {source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:101033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4793 {source="MONDO:equivalentTo", source="DOID:1523", source="MONDO:exact-label-match"}
xref: SCTID:133751000119102 {source="MONDO:equivalentTo", source="DOID:1523"}
xref: UMLS:C0519037 {source="MEDGEN:101033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004699 {source="MONDO:Entailed", source="NCIT:C4793/inferred"} ! gastrointestinal lymphoma
is_a: MONDO:0005062 {source="DOID:1523", source="MONDO:Redundant", source="NCIT:C4793/inferred"} ! lymphoma
is_a: MONDO:0021063 {source="DOID:1523", source="MONDO:Redundant", source="NCIT:C4793"} ! malignant colon neoplasm
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0002036
name: penile disorder
def: "A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of penis" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of penis" EXACT []
synonym: "disorder of penis" EXACT [MONDO:patterns/location_top]
synonym: "penile disease" EXACT [NCIT:C26846]
synonym: "penile disorder" EXACT [NCIT:C26846]
synonym: "penis disease" EXACT [MONDO:patterns/location]
synonym: "penis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1529 {source="MONDO:equivalentTo"}
xref: ICD10CM:N48.8 {source="DOID:1529"}
xref: ICD10CM:N48.89 {source="DOID:1529"}
xref: ICD9:607.8 {source="DOID:1529"}
xref: ICD9:607.89 {source="DOID:1529"}
xref: ICD9:607.9
xref: MEDGEN:10627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010409 {source="MONDO:equivalentTo"}
xref: NCIT:C26846 {source="MONDO:equivalentTo"}
xref: SCTID:198558008 {source="DOID:1529"}
xref: SCTID:33958003 {source="MONDO:equivalentTo"}
xref: UMLS:C0030846 {source="MEDGEN:10627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="DOID:1529", source="MESH:D010409", source="MONDO:Redundant", source="NCIT:C26846"} ! male reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0002037
name: pleural disorder
def: "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of pleura" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pleura" EXACT []
synonym: "disorder of pleura" EXACT [DOID:1532, MONDO:patterns/location_top]
synonym: "non-neoplastic pleural disease" NARROW [DOID:1532]
synonym: "pleura disease" EXACT [MONDO:patterns/location]
synonym: "pleura disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pleural disorder" EXACT [NCIT:C26859]
synonym: "pleural disorders" EXACT [NCIT:C26859]
xref: DOID:1532 {source="MONDO:equivalentTo"}
xref: ICD10CM:J90-J94 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010995 {source="MONDO:equivalentTo", source="DOID:1532"}
xref: NCIT:C26859 {source="MONDO:equivalentTo", source="DOID:1532"}
xref: SCTID:88075009 {source="MONDO:equivalentTo", source="DOID:1532"}
xref: UMLS:C0032226 {source="MONDO:equivalentTo", source="MEDGEN:10804", source="MONDO:MEDGEN"}
is_a: MONDO:0000270 {source="DOID:1532", source="MONDO:Redundant"} ! lower respiratory tract disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0002038
name: head and neck carcinoma
def: "A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." [NCIT:C35850]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of craniocervical region" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of head and neck" EXACT [NCIT:C35850]
synonym: "carcinoma of neck" EXACT [DOID:1542, MONDO:patterns/carcinoma]
synonym: "carcinoma of the head and neck" EXACT [NCIT:C35850]
synonym: "carcinoma of the neck" NARROW [DOID:1542, NCIT:C6077]
synonym: "craniocervical region carcinoma" EXACT [MONDO:patterns/location]
synonym: "head and neck cancer" RELATED [NCIT:C35850]
synonym: "head and neck carcinoma" EXACT [NCIT:C35850]
synonym: "neck carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:1542 {source="MONDO:equivalentTo"}
xref: MEDGEN:854345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35850 {source="MONDO:equivalentTo"}
xref: NCIT:C6077 {source="DOID:1542"}
xref: UMLS:C3887461 {source="MEDGEN:854345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C35850"} ! carcinoma
is_a: MONDO:0005627 {source="DOID:1542", source="MONDO:Redundant", source="NCIT:C35850"} ! head and neck cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0007811 ! craniocervical region

[Term]
id: MONDO:0002039
name: cognitive disorder
def: "A disease affects cognitive processes." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cognitive disease" EXACT [DOID:1561]
synonym: "cognitive disorder" EXACT [NCIT:C92196]
synonym: "organic mental disorder" RELATED [DOID:1561, NCIT:C34870]
xref: DOID:0080832 {source="MONDO:mondoIsBroaderThanSource"}
xref: DOID:1561 {source="MONDO:equivalentTo"}
xref: ICD10CM:F09 {source="DOID:1561"}
xref: ICD9:294.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:40371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019965 {source="DOID:1561", source="MONDO:equivalentTo"}
xref: NCIT:C34870 {source="DOID:1561"}
xref: NCIT:C92196 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:106014008 {source="DOID:1561"}
xref: SCTID:111479008 {source="DOID:1561"}
xref: SCTID:443265004 {source="MONDO:equivalentTo"}
xref: UMLS:C0009241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40371"}
is_a: MONDO:0002025 {source="MESH:D019965", source="MONDO:Redundant", source="NCIT:C92196"} ! psychiatric disorder
intersection_of: MONDO:0002025 ! psychiatric disorder
intersection_of: disease_disrupts MF:0000008 ! cognitive process

[Term]
id: MONDO:0002040
name: dermatomycosis
def: "Superficial infections of the skin or its appendages by any of various fungi." [MESH:D003881]
subset: otar {source="MONDO:OTAR"}
xref: DOID:1563 {source="MONDO:equivalentTo"}
xref: ICD9:111 {source="DOID:1563"}
xref: ICD9:111.9 {source="DOID:1563"}
xref: MEDGEN:8330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003881 {source="DOID:1563", source="MONDO:equivalentTo"}
xref: SCTID:14560005 {source="DOID:1563"}
xref: SCTID:186984003 {source="DOID:1563"}
xref: SCTID:187004009 {source="DOID:1563"}
xref: SCTID:47382004 {source="DOID:1563", source="MONDO:directSiblingOf"}
xref: UMLS:C0011630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8330"}
is_a: MONDO:0000254 {source="DOID:1563"} ! cutaneous mycosis
is_a: MONDO:0002041 {source="DOID:1563/inferred", source="MESH:D003881", source="MONDO:Redundant", source="MONDO:indirect"} ! fungal infectious disease
relationship: disease_has_infectious_agent NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0002041
name: fungal infectious disease
def: "An infection caused by a fungus." [NCIT:C3245]
subset: otar {source="MONDO:OTAR"}
synonym: "fungal infection" RELATED [NCIT:C3245]
synonym: "Fungi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi disease or disorder" EXACT []
synonym: "Fungi infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Fungi infectious disease" EXACT []
synonym: "infection, fungal" RELATED [NCIT:C3245]
synonym: "infections, Fungi" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "mycoses" RELATED [DOID:1564]
synonym: "mycosis" EXACT [DOID:1564]
xref: DOID:1564 {source="MONDO:equivalentTo"}
xref: ICD10CM:B35-B49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1564", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:B49 {source="DOID:1564"}
xref: ICD9:110-118.99 {source="DOID:1564"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009181 {source="DOID:1564", source="MONDO:equivalentTo"}
xref: NCIT:C3245 {source="DOID:1564", source="MONDO:equivalentTo"}
xref: SCTID:154393000 {source="DOID:1564"}
xref: SCTID:154394006 {source="DOID:1564"}
xref: SCTID:187110007 {source="DOID:1564"}
xref: SCTID:187472001 {source="DOID:1564"}
xref: SCTID:187498007 {source="DOID:1564"}
xref: SCTID:266214005 {source="DOID:1564"}
xref: SCTID:3218000 {source="DOID:1564", source="MONDO:equivalentTo"}
xref: UMLS:C0026946 {source="MEDGEN:6486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 {source="DOID:1564", source="ICD10CM:B35-B49", source="MONDO:Redundant", source="NCIT:C3245"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
relationship: disease_has_infectious_agent NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0002042
name: mechanical ectropion
def: "An ectropion with a mechanical etiology." [http://eyewiki.aao.org/Ectropion, https://orcid.org/0000-0002-6601-2165]
xref: DOID:1569 {source="MONDO:equivalentTo"}
xref: ICD10CM:H02.121-129 {source="MONDO:ICD10Range"}
xref: ICD9:374.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1569"}
xref: MEDGEN:509842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:45020000 {source="MONDO:equivalentTo", source="DOID:1569"}
xref: UMLS:C0155194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509842"}
is_a: MONDO:0002043 {source="DOID:1569"} ! ectropion

[Term]
id: MONDO:0002043
name: ectropion
def: "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" [MESH:D004483]
subset: otar {source="MONDO:OTAR"}
synonym: "ectropion" EXACT [MONDO:ambiguous]
synonym: "ectropion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "ectropion of eyelid" EXACT [DOID:1570]
synonym: "everted margin" EXACT [DOID:1570]
xref: DOID:1570 {source="MONDO:equivalentTo"}
xref: HP:0000656 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H02.1 {source="DOID:1570"}
xref: ICD10CM:H02.10 {source="DOID:1570"}
xref: ICD10CM:H02.109 {source="DOID:1570"}
xref: ICD9:374.1 {source="DOID:1570"}
xref: ICD9:374.10 {source="DOID:1570", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004483 {source="DOID:1570", source="MONDO:equivalentTo"}
xref: SCTID:127559009 {source="DOID:1570"}
xref: SCTID:155178000 {source="DOID:1570"}
xref: SCTID:193934003 {source="DOID:1570"}
xref: SCTID:193935002 {source="DOID:1570"}
xref: SCTID:62909004 {source="DOID:1570", source="MONDO:equivalentTo"}
xref: UMLS:C0013592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4448"}
is_a: MONDO:0003382 {source="DOID:1570", source="MESH:D004483"} ! eyelid disorder
property_value: IAO:0000589 "ectropion (disease)" xsd:string

[Term]
id: MONDO:0002044
name: spastic ectropion
xref: DOID:1571 {source="MONDO:equivalentTo"}
xref: ICD9:374.13 {source="DOID:1571", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:80846000 {source="DOID:1571", source="MONDO:equivalentTo"}
xref: UMLS:C0155195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509843"}
is_a: MONDO:0002043 {source="DOID:1571"} ! ectropion

[Term]
id: MONDO:0002045
name: communicating hydrocephalus
def: "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "non-obstructive hydrocephalus" EXACT [NCIT:C34501]
xref: DOID:1573 {source="MONDO:equivalentTo"}
xref: ICD10CM:G91.0 {source="DOID:1573", source="MONDO:equivalentTo"}
xref: ICD9:331.3 {source="DOID:1573", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006849 {source="DOID:1573"}
xref: NCIT:C34501 {source="DOID:1573", source="MONDO:equivalentTo"}
xref: SCTID:271569006 {source="DOID:1573", source="MONDO:equivalentTo"}
xref: SCTID:59013007 {source="DOID:1573"}
xref: UMLS:C0009451 {source="MEDGEN:1058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001150 {source="DOID:1573", source="ICD10CM:G91.0", source="NCIT:C34501"} ! hydrocephalus

[Term]
id: MONDO:0002046
name: alcohol abuse
def: "The use of alcoholic beverages to excess, either on individual occasions (\"binge drinking\") or as a regular practice." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "abuse, alcohol" RELATED [MESH:D000437]
synonym: "addiction, alcohol" RELATED [MESH:D000437]
synonym: "alcohol abuse" EXACT [MESH:D000437]
synonym: "alcohol addiction" RELATED [MESH:D000437]
synonym: "alcohol dependence" RELATED [MESH:D000437]
synonym: "alcohol use disorder" RELATED [DOID:1574]
synonym: "alcoholic intoxication, chronic" RELATED [MESH:D000437]
synonym: "alcoholism" RELATED [MESH:D000437]
synonym: "chronic alcoholic intoxication" RELATED [MESH:D000437]
synonym: "dependence, alcohol" RELATED [MESH:D000437]
synonym: "ethanol abuse" EXACT [DOID:1574]
synonym: "intoxication, chronic alcoholic" RELATED [MESH:D000437]
xref: DOID:1574 {source="MONDO:equivalentTo"}
xref: ICD10CM:F10.1 {source="DOID:1574"}
xref: ICD9:305.0 {source="DOID:1574"}
xref: ICD9:305.00 {source="DOID:1574"}
xref: MEDGEN:39339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000437 {source="DOID:1574", source="MONDO:equivalentTo"}
xref: MESH:D019973 {source="DOID:1574"}
xref: NCIT:C20701 {source="DOID:1574", source="MONDO:otherHierarchy"}
xref: SCTID:15167005 {source="DOID:1574", source="MONDO:equivalentTo"}
xref: SCTID:304606004 {source="DOID:1574"}
xref: UMLS:C0085762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39339"}
is_a: MONDO:0002491 {source="DOID:1574", source="MONDO:Redundant"} ! substance abuse
is_a: MONDO:0021698 {source="MESH:D000437", source="MONDO:Redundant"} ! alcohol-related disorders
intersection_of: MONDO:0002491 ! substance abuse
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0002047
name: pulmonary systemic sclerosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lung disease with systemic sclerosis" EXACT [DOID:1578]
synonym: "lung involvement in systemic sclerosis" EXACT [DOID:1578, ICD9CM:517.2]
synonym: "scleroderma lung disease" EXACT [doi:10.1183/09059180.00005512]
synonym: "scleroderma of lung" RELATED []
xref: DOID:1578 {source="MONDO:equivalentTo"}
xref: ICD10CM:M34.81 {source="DOID:1578"}
xref: ICD9:517.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1578"}
xref: MEDGEN:573414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196133001 {source="MONDO:equivalentTo", source="DOID:1578"}
xref: UMLS:C0339904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573414"}
is_a: MONDO:0005100 {source="DOID:1578"} ! systemic sclerosis
is_a: MONDO:0005275 {source="MONDO:Redundant"} ! lung disorder
relationship: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0002048
name: thrombocytopenia due to immune destruction
def: "A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus)." [NCIT:C3991]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "auto-immune thrombocytopenia" EXACT [DOID:1587]
synonym: "Immune Thrombocytopenia" BROAD [NORD:1297]
synonym: "immune thrombocytopenia" BROAD [NCIT:C3991]
synonym: "thrombocytopenia due to immune destruction" EXACT [DOID:1587, NCIT:C3991]
synonym: "thrombocytopenia due to platelet alloimmunization" RELATED [DOID:1587]
xref: DOID:1587 {source="MONDO:equivalentTo"}
xref: MEDGEN:75778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3991 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:1587"}
xref: SCTID:2897005 {source="DOID:1587"}
xref: UMLS:C0272286 {source="MEDGEN:75778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002049 {source="DOID:1587", source="NCIT:C3991"} ! thrombocytopenia
relationship: disease_has_basis_in_dysfunction_of UBERON:0002405 ! immune system

[Term]
id: MONDO:0002049
name: thrombocytopenia
def: "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood." [NCIT:C3408]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "platelet count decreased" EXACT [NCIT:C3408]
synonym: "thrombocytopenic disorder" EXACT [NCIT:C3408]
xref: DOID:1588 {source="MONDO:equivalentTo"}
xref: ICD10CM:D69.6 {source="DOID:1588"}
xref: ICD9:287.5 {source="DOID:1588", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013921 {source="DOID:1588", source="MONDO:equivalentTo"}
xref: NCIT:C3408 {source="DOID:1588", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: Orphanet:852 {source="DOID:1588"}
xref: SCTID:142969008 {source="DOID:1588"}
xref: SCTID:154827000 {source="DOID:1588"}
xref: SCTID:165556002 {source="DOID:1588"}
xref: SCTID:191326009 {source="DOID:1588"}
xref: SCTID:302215000 {source="DOID:1588", source="MONDO:equivalentTo"}
xref: SCTID:415116008 {source="DOID:1588"}
xref: SCTID:70786006 {source="DOID:1588"}
xref: UMLS:C0040034 {source="MEDGEN:52737", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002245 {source="DOID:1588", source="MESH:D013921"} ! blood platelet disease

[Term]
id: MONDO:0002050
name: depressive disorder
def: "A melancholy feeling of sadness and despair." [NCIT:C2982]
subset: otar {source="MONDO:OTAR"}
synonym: "depression" EXACT [NCIT:C2982]
synonym: "melancholia" RELATED [MESH:D003866]
synonym: "melancholias" RELATED [MESH:D003866]
synonym: "mental depression" EXACT [DOID:1596]
synonym: "syndrome, depressive" RELATED [MESH:D003866]
synonym: "syndromes, depressive" RELATED [MESH:D003866]
xref: DOID:1596 {source="MONDO:equivalentTo"}
xref: ICD10CM:F32 {source="MONDO:equivalentTo"}
xref: ICD10CM:F32.9 {source="DOID:1596"}
xref: ICD10CM:F33.9 {source="DOID:1596"}
xref: ICD9:311 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003863 {source="DOID:1596"}
xref: MESH:D003866 {source="MONDO:equivalentTo"}
xref: MFOMD:0000013
xref: NCIT:C2982 {source="DOID:1596", source="MONDO:equivalentTo"}
xref: SCTID:154963001 {source="DOID:1596"}
xref: SCTID:192372006 {source="DOID:1596"}
xref: SCTID:307537002 {source="DOID:1596"}
xref: SCTID:35489007 {source="MONDO:equivalentTo"}
xref: SCTID:41006004 {source="DOID:1596"}
xref: UMLS:C0011581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4229"}
is_a: MONDO:0005371 {source="DOID:1596", source="ICD10CM:F32", source="MESH:D003866", source="NCIT:C2982"} ! mood disorder

[Term]
id: MONDO:0002051
name: integumentary system disorder
alt_id: MONDO:0045027
def: "A disease involving the integumental system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of integumental system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of integumental system" EXACT []
synonym: "disorder of integument" RELATED []
synonym: "disorder of integumental system" EXACT [MONDO:patterns/location_top]
synonym: "integumental system disease" EXACT [MONDO:patterns/location]
synonym: "integumental system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "integumentary disease" EXACT [DOID:16]
xref: DOID:16 {source="MONDO:equivalentTo"}
xref: EFO:0010285 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:712400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:128598002 {source="MONDO:equivalentTo"}
xref: UMLS:C1290011 {source="MEDGEN:712400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0002416 ! integumental system

[Term]
id: MONDO:0002052
name: lymphadenitis
def: "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." [NCIT:C26821]
subset: otar {source="MONDO:OTAR"}
synonym: "acute adenitis" NARROW [DOID:1602]
synonym: "acute lymphadenitis" NARROW [DOID:1602, ICD9CM:683]
synonym: "adenitis" EXACT [DOID:1602, NCIT:C26821]
synonym: "chronic adenitis" NARROW [DOID:1602]
synonym: "chronic lymphadenitis" NARROW [DOID:1602, NCIT:C26966]
synonym: "Inflammation of lymph node" EXACT [DOID:1602]
synonym: "inflammation of lymph node" EXACT []
synonym: "lymph gland infection" RELATED [NCIT:C26821]
synonym: "lymph node inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "lymph nodeitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "lymphadenitis" EXACT [MONDO:ambiguous]
synonym: "lymphadenitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1602 {source="MONDO:equivalentTo"}
xref: HP:0002840 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I88.1 {source="DOID:1602"}
xref: ICD10CM:I88.9 {source="DOID:1602"}
xref: ICD10CM:L04 {source="DOID:1602"}
xref: ICD10CM:L04.9 {source="DOID:1602"}
xref: ICD9:289.1 {source="DOID:1602"}
xref: ICD9:683 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1602"}
xref: MEDGEN:7410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008199 {source="MONDO:equivalentTo", source="DOID:1602"}
xref: NCIT:C26821 {source="MONDO:equivalentTo", source="DOID:1602"}
xref: NCIT:C26966 {source="DOID:1602"}
xref: NCIT:C26978 {source="DOID:1602"}
xref: SCTID:154836001 {source="DOID:1602"}
xref: SCTID:154838000 {source="DOID:1602"}
xref: SCTID:156318008 {source="DOID:1602"}
xref: SCTID:19471005 {source="DOID:1602"}
xref: SCTID:200696002 {source="DOID:1602"}
xref: SCTID:274737001 {source="DOID:1602"}
xref: SCTID:287688007 {source="DOID:1602"}
xref: SCTID:32035007 {source="DOID:1602"}
xref: SCTID:41174002 {source="MONDO:equivalentTo", source="DOID:1602"}
xref: UMLS:C0024205 {source="MEDGEN:7410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004928 {source="DOID:1602", source="MONDO:Redundant", source="NCIT:C26821"} ! lymph node disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000029 ! lymph node
relationship: disease_arises_from_structure CL:0000542 ! lymphocyte
property_value: IAO:0000589 "lymphadenitis (disease)" xsd:string

[Term]
id: MONDO:0002053
name: obsolete hypoglycemic coma
xref: DOID:1607 {source="MONDO:obsoleteEquivalent"}
xref: HP:0001325 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E15 {source="DOID:1607"}
xref: ICD9:251.0 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1607"}
xref: SCTID:154692004 {source="DOID:1607"}
xref: SCTID:190428000 {source="DOID:1607"}
xref: SCTID:190430003 {source="DOID:1607"}
xref: SCTID:267384006 {source="MONDO:obsoleteEquivalent", source="DOID:1607"}
xref: SCTID:267476006 {source="DOID:1607"}
xref: SCTID:71898001 {source="DOID:1607"}
is_obsolete: true
replaced_by: HP:0001325

[Term]
id: MONDO:0002054
name: obsolete breast cancer
is_obsolete: true
replaced_by: MONDO:0007254

[Term]
id: MONDO:0002055
name: benign eccrine breast spiradenoma
def: "A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells." [NCIT:P378]
synonym: "benign breast eccrine spiradenoma" EXACT [NCIT:C5193]
synonym: "benign eccrine breast spiradenoma" EXACT [DOID:1616, NCIT:C5193]
synonym: "benign eccrine spiradenoma of breast" EXACT [NCIT:C5193]
synonym: "benign eccrine spiradenoma of the breast" EXACT [NCIT:C5193]
xref: DOID:1616 {source="MONDO:equivalentTo"}
xref: MEDGEN:231933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5193 {source="MONDO:equivalentTo", source="DOID:1616"}
xref: UMLS:C1332492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231933"}
is_a: MONDO:0000620 {source="DOID:1616", source="NCIT:C5193"} ! breast benign neoplasm
is_a: MONDO:0003448 {source="NCIT:C5193"} ! benign spiradenoma
is_a: MONDO:0021489 {source="MONDO:Entailed", source="NCIT:C5193/inferred"} ! benign neoplasm of sweat gland

[Term]
id: MONDO:0002056
name: breast fibroadenoma
def: "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." [NCIT:C3744]
synonym: "breast fibroadenoma" EXACT [NCIT:C3744]
synonym: "cellular fibroadenoma" EXACT [DOID:1618, NCIT:C4276]
synonym: "Complex fibroadenoma of breast" EXACT [DOID:1618, NCIT:C5194]
synonym: "FA" RELATED ABBREVIATION [ONCOTREE:FA]
synonym: "fibroadenoma" EXACT [DOID:1618, NCIT:C3744]
synonym: "fibroadenoma of breast" EXACT [NCIT:C3744]
synonym: "fibroadenoma of the breast" EXACT [NCIT:C3744]
synonym: "fibroadenoma, benign" EXACT [NCIT:C3744]
synonym: "juvenile fibroadenoma" EXACT [DOID:1618]
synonym: "juvenile fibroadenoma (morphologic abnormality)" EXACT [DOID:1618]
synonym: "juvenile fibroadenoma of breast" EXACT [DOID:1618]
xref: DOID:1618 {source="MONDO:equivalentTo"}
xref: ICD10CM:D24 {source="DOID:1618"}
xref: ICDO:9010/0 {source="NCIT:C3744"}
xref: MEDGEN:64231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018226 {source="MONDO:equivalentTo", source="DOID:1618"}
xref: NCIT:C3744 {source="MONDO:equivalentTo"}
xref: ONCOTREE:FA {source="MONDO:equivalentTo"}
xref: SCTID:189102001 {source="DOID:1618"}
xref: SCTID:189820007 {source="DOID:1618"}
xref: SCTID:254845004 {source="DOID:1618"}
xref: SCTID:254847007 {source="MONDO:equivalentTo", source="DOID:1618"}
xref: SCTID:269640007 {source="DOID:1618"}
xref: SCTID:46212000 {source="DOID:1618"}
xref: SCTID:65877006 {source="DOID:1618"}
xref: UMLS:C0178421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64231"}
is_a: MONDO:0000620 {source="DOID:1618"} ! breast benign neoplasm
is_a: MONDO:0021046 {source="NCIT:C3744", source="ONCOTREE:FA"} ! breast fibroepithelial neoplasm

[Term]
id: MONDO:0002057
name: breast leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40399]
synonym: "breast leiomyoma" EXACT [MONDO:patterns/location, NCIT:C40399]
synonym: "leiomyoma of breast" EXACT [MONDO:design_pattern]
xref: DOID:1623 {source="MONDO:equivalentTo"}
xref: MEDGEN:267768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40399 {source="MONDO:equivalentTo", source="DOID:1623", source="MONDO:exact-label-match"}
xref: UMLS:C1511317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267768"}
is_a: MONDO:0000620 {source="DOID:1623", source="MONDO:Redundant", source="NCIT:C40399"} ! breast benign neoplasm
is_a: MONDO:0001572 {source="DOID:1623", source="MONDO:Redundant", source="NCIT:C40399"} ! leiomyoma
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002058
name: breast adenoma
def: "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma." [NCIT:C40382]
subset: otar {source="MONDO:OTAR"}
synonym: "Ademoma - breast" EXACT [DOID:1625]
synonym: "breast adenoma" EXACT [MONDO:patterns/location, NCIT:C40382]
xref: DOID:1625 {source="MONDO:equivalentTo"}
xref: MEDGEN:231286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40382 {source="MONDO:equivalentTo", source="DOID:1625", source="MONDO:exact-label-match"}
xref: SCTID:269640007 {source="DOID:1625"}
xref: UMLS:C1328385 {source="MEDGEN:231286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000620 {source="DOID:1625", source="NCIT:C40382"} ! breast benign neoplasm
is_a: MONDO:0004972 {source="DOID:1625", source="MONDO:Redundant", source="NCIT:C40382"} ! adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002059
name: obsolete breast duct papilloma
is_obsolete: true
replaced_by: MONDO:0021097

[Term]
id: MONDO:0002060
name: intraductal papilloma
def: "An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma." [NCIT:C3785]
subset: otar {source="MONDO:OTAR"}
synonym: "duct adenoma" EXACT [NCIT:C3785]
synonym: "duct papilloma" EXACT [MONDO:patterns/location]
synonym: "ductal papilloma" EXACT [DOID:1627, NCIT:C3785]
synonym: "intraductal papilloma" EXACT [NCIT:C3785]
synonym: "intraductal papilloma (morphologic abnormality)" EXACT [DOID:1627]
xref: DOID:1627 {source="MONDO:equivalentTo"}
xref: ICDO:8503/0 {source="NCIT:C3785"}
xref: MEDGEN:61667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018300 {source="MONDO:equivalentTo", source="DOID:1627"}
xref: NCIT:C3785 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1627"}
xref: SCTID:5244003 {source="DOID:1627"}
xref: UMLS:C0206713 {source="MEDGEN:61667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002363 {source="DOID:1627", source="MONDO:Redundant", source="NCIT:C3785"} ! papilloma
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_has_location UBERON:0000058 ! duct

[Term]
id: MONDO:0002061
name: intraductal papillary breast neoplasm
def: "A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma." [NCIT:C36090]
synonym: "intraductal papillary breast neoplasm" EXACT [NCIT:C36090]
xref: DOID:1628 {source="MONDO:equivalentTo"}
xref: MEDGEN:233572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36090 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1628"}
xref: UMLS:C1334252 {source="MEDGEN:233572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002488 {source="DOID:1628", source="NCIT:C36090"} ! intraductal breast neoplasm

[Term]
id: MONDO:0002062
name: breast myofibroblastoma
def: "A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass." [NCIT:C40397]
synonym: "breast myofibroblastoma" EXACT [NCIT:C40397]
xref: DOID:1629 {source="MONDO:equivalentTo"}
xref: MEDGEN:307311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40397 {source="MONDO:equivalentTo", source="NCIT:C40397", source="DOID:1629"}
xref: UMLS:C1511320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307311"}
is_a: MONDO:0000620 {source="DOID:1629", source="NCIT:C40397"} ! breast benign neoplasm
is_a: MONDO:0040675 {source="NCIT:C40397"} ! myofibroblastoma

[Term]
id: MONDO:0002063
name: obsolete breast papillomatosis
def: "A benign breast neoplasm characterized by the proliferation of multiple papillomas." [NCIT:C6977]
synonym: "breast papillomatosis" EXACT [MONDO:patterns/location, NCIT:C6977]
synonym: "papillomatosis of breast" EXACT [NCIT:C6977]
synonym: "papillomatosis of the breast" EXACT [DOID:1634, NCIT:C6977]
xref: DOID:1634 {source="MONDO:obsoleteEquivalentObsolete"}
xref: NCIT:C6977 {source="DOID:1634", source="MONDO:exact-label-match", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6930" xsd:anyURI
is_obsolete: true
consider: MONDO:0000620

[Term]
id: MONDO:0002064
name: breast angiomatosis
def: "A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces." [NCIT:P378]
xref: DOID:1637 {source="MONDO:equivalentTo"}
xref: MEDGEN:307304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40381 {source="MONDO:equivalentTo", source="DOID:1637"}
xref: UMLS:C1511284 {source="MEDGEN:307304", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001574 {source="DOID:1637"} ! capillary disorder
is_a: MONDO:0002657 {source="DOID:1637", source="NCIT:C40381/inferred"} ! breast disorder

[Term]
id: MONDO:0002065
name: benign breast adenomyoepithelioma
def: "A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation." [NCIT:C5144]
synonym: "benign adenomyoepithelioma of breast" EXACT [NCIT:C5144]
synonym: "benign adenomyoepithelioma of the breast" EXACT [DOID:1641, NCIT:C5144]
synonym: "benign breast adenomyoepithelioma" EXACT [NCIT:C5144]
synonym: "breast adenomyoepithelioma, benign" EXACT [MONDO:patterns/benign]
xref: DOID:1641 {source="MONDO:equivalentTo"}
xref: MEDGEN:231421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5144 {source="DOID:1641", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231421"}
is_a: MONDO:0000620 {source="DOID:1641", source="MONDO:Redundant", source="NCIT:C5144"} ! breast benign neoplasm
is_a: MONDO:0002066 {source="MONDO:Redundant", source="NCIT:C5144"} ! breast adenomyoepithelioma
intersection_of: MONDO:0002066 ! breast adenomyoepithelioma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0002066
name: breast adenomyoepithelioma
def: "A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases." [NCIT:C6899]
synonym: "adenomyoepithelioma of the breast" EXACT [DOID:1642, NCIT:C6899]
synonym: "BRAME" RELATED ABBREVIATION [ONCOTREE:BRAME]
synonym: "breast adenomyoepithelioma" EXACT [NCIT:C6899]
synonym: "breast adenomyoepithelioma with malignant change" EXACT [DOID:1642, NCIT:C5143]
synonym: "malignant adenomyoepithelioma of breast" EXACT [DOID:1642]
xref: DOID:1642 {source="MONDO:equivalentTo"}
xref: ICDO:8983/0 {source="NCIT:C6899"}
xref: MEDGEN:267278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5143 {source="DOID:1642"}
xref: NCIT:C6899 {source="MONDO:equivalentTo", source="DOID:1642"}
xref: ONCOTREE:BRAME {source="MONDO:equivalentTo"}
xref: UMLS:C1510795 {source="MEDGEN:267278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002483 {source="DOID:1642", source="NCIT:C6899"} ! breast myoepithelial tumor

[Term]
id: MONDO:0002067
name: female breast upper-inner quadrant cancer
synonym: "malignant neoplasm of upper-inner quadrant of female breast" EXACT [DOID:1647]
xref: DOID:1647 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50.2 {source="MONDO:equivalentTo"}
xref: ICD9:174.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1647"}
xref: MEDGEN:509324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188152004 {source="MONDO:equivalentTo", source="DOID:1647"}
xref: UMLS:C0153550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509324"}
is_a: MONDO:0004379 {source="DOID:1647"} ! female breast carcinoma

[Term]
id: MONDO:0002068
name: female breast lower-inner quadrant cancer
synonym: "malignant neoplasm of lower-inner quadrant of female breast" EXACT [DOID:1649]
xref: DOID:1649 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50.3 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50.31 {source="DOID:1649"}
xref: ICD9:174.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1649"}
xref: MEDGEN:509325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188153009 {source="MONDO:equivalentTo", source="DOID:1649"}
xref: UMLS:C0153551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509325"}
is_a: MONDO:0004379 {source="DOID:1649"} ! female breast carcinoma

[Term]
id: MONDO:0002069
name: female breast axillary tail cancer
def: "A cancer that involves the UBERON:0035289." [MONDO:patterns/location]
synonym: "axillary tail of breast cancer" EXACT []
synonym: "cancer of axillary tail of breast" EXACT [MONDO:patterns/cancer]
synonym: "malignant axillary tail of breast neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of axillary tail of breast" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of axillary tail of female breast" EXACT []
xref: DOID:1650 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50.6 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50.61 {source="DOID:1650"}
xref: ICD9:174.6 {source="DOID:1650", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188156001 {source="DOID:1650", source="MONDO:equivalentTo"}
xref: SCTID:93685009 {source="DOID:1650"}
xref: UMLS:C0153554 {source="MEDGEN:509328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004379 {source="DOID:1650"} ! female breast carcinoma
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0035289 ! axillary tail of breast

[Term]
id: MONDO:0002070
name: ventricular septal defect
def: "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "heart septal defects, ventricular" RELATED [GARD:0007853]
synonym: "interventricular communication" EXACT [Orphanet:1480]
synonym: "interventricular septal defect" EXACT [DOID:1657]
synonym: "ventricular septal abnormality" EXACT [DOID:1657]
synonym: "ventricular septal defect" EXACT [MONDO:ambiguous]
synonym: "ventricular septal defect (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "ventricular septal defects" RELATED [GARD:0007853]
synonym: "VSD" EXACT ABBREVIATION [NCIT:C84506, Orphanet:1480]
xref: DOID:1657 {source="MONDO:equivalentTo"}
xref: HP:0001629 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q21.0 {source="DOID:1657"}
xref: ICD9:745.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1657"}
xref: MEDGEN:42366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006345 {source="MONDO:equivalentTo", source="DOID:1657"}
xref: NANDO:2100087 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200270 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84506 {source="MONDO:equivalentTo", source="DOID:1657"}
xref: OMIMPS:614429 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1480 {source="MONDO:equivalentObsolete", source="DOID:1657"}
xref: SCTID:156914003 {source="DOID:1657"}
xref: SCTID:204309000 {source="DOID:1657"}
xref: SCTID:204310005 {source="DOID:1657"}
xref: SCTID:204314001 {source="DOID:1657"}
xref: SCTID:253549006 {source="DOID:1657"}
xref: SCTID:270547008 {source="DOID:1657"}
xref: SCTID:30288003 {source="MONDO:equivalentTo", source="DOID:1657"}
xref: UMLS:C0018818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42366"}
is_a: MONDO:0002078 {source="DOID:1657", source="MESH:D006345"} ! heart septal defect
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614429"} ! inherited
property_value: IAO:0000589 "ventricular septal defect (disease)" xsd:string

[Term]
id: MONDO:0002071
name: supratentorial cancer
def: "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." [MESH:D015173]
synonym: "brain neoplasm, supratentorial" EXACT [DOID:1659, NCIT:C3397]
synonym: "malignant supratentorial neoplasm" EXACT [NCIT:C4964]
synonym: "malignant supratentorial tumor" EXACT [DOID:1659, NCIT:C4964]
synonym: "malignant supratentorial tumour" EXACT OMO:0003005 []
synonym: "supratentorial neoplasms, malignant" EXACT [NCIT:C4964]
xref: DOID:1659 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71.0 {source="DOID:1659"}
xref: MEDGEN:155589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015173 {source="MONDO:equivalentTo", source="DOID:1659"}
xref: NCIT:C3397 {source="DOID:1659"}
xref: NCIT:C4964 {source="MONDO:equivalentTo", source="DOID:1659"}
xref: UMLS:C0751589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155589"}
is_a: MONDO:0001657 {source="DOID:1659", source="MESH:D015173", source="NCIT:C4964"} ! brain cancer
relationship: disease_has_location UBERON:0001893 ! telencephalon

[Term]
id: MONDO:0002072
name: melanotic neuroectodermal tumor
def: "A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course." [NCIT:C3717]
synonym: "infantile melanotic neuroectodermal neoplasm" EXACT [DOID:166, NCIT:C3717]
synonym: "melanotic neuroectodermal tumor (morphologic abnormality)" EXACT [DOID:166]
synonym: "melanotic neuroectodermal tumor of infancy" EXACT [NCIT:C3717]
synonym: "melanotic neuroectodermal tumor of infancy (morphologic abnormality)" EXACT [DOID:166]
synonym: "melanotic neuroectodermal tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "melanotic neuroectodermal tumour of infancy" EXACT OMO:0003005 []
synonym: "melanotic neuroectodermal tumour of infancy (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "melanotic Progonoma" EXACT [NCIT:C3717]
synonym: "MNTI" EXACT ABBREVIATION [NCIT:C3717]
synonym: "pigmented neuroectodermal tumor" EXACT [NCIT:C3717]
synonym: "pigmented neuroectodermal tumor of infancy" EXACT [DOID:166]
synonym: "pigmented neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "pigmented neuroectodermal tumour of infancy" EXACT OMO:0003005 []
synonym: "retinal anlage neoplasm" EXACT [NCIT:C3717]
xref: DOID:166 {source="MONDO:equivalentTo"}
xref: ICDO:9363/0 {source="NCIT:C3717"}
xref: MEDGEN:60073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017600 {source="MONDO:equivalentTo", source="DOID:166"}
xref: NCIT:C3717 {source="MONDO:equivalentTo", source="DOID:166"}
xref: SCTID:1513001 {source="DOID:166"}
xref: SCTID:253076000 {source="DOID:166"}
xref: SCTID:404042005 {source="MONDO:equivalentTo", source="DOID:166"}
xref: UMLS:C0206094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60073"}
is_a: MONDO:0005462 {source="MESH:D017600", source="NCIT:C3717"} ! primitive neuroectodermal tumor
relationship: excluded_subClassOf MONDO:0000631 {source="DOID:166", source="https://orcid.org/0000-0001-5208-3432"} ! bone benign neoplasm

[Term]
id: MONDO:0002073
name: malignant pineal area germ cell neoplasm
def: "A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "malignant germ cell neoplasm of pineal gland" EXACT [NCIT:C6767]
synonym: "malignant germ cell neoplasm of pineal parenchyma" EXACT [NCIT:C6767]
synonym: "malignant germ cell neoplasm of the pineal gland" EXACT [NCIT:C6767]
synonym: "malignant germ cell neoplasm of the pineal parenchyma" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumor of pineal gland" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumor of pineal parenchyma" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumor of the pineal gland" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumor of the pineal parenchyma" EXACT [NCIT:C6767]
synonym: "malignant germ cell tumour of pineal gland" EXACT OMO:0003005 []
synonym: "malignant germ cell tumour of pineal parenchyma" EXACT OMO:0003005 []
synonym: "malignant germ cell tumour of the pineal gland" EXACT OMO:0003005 []
synonym: "malignant germ cell tumour of the pineal parenchyma" EXACT OMO:0003005 []
synonym: "malignant pineal area germ cell tumor" EXACT [NCIT:C6767]
synonym: "malignant pineal area germ cell tumour" EXACT OMO:0003005 []
synonym: "malignant pineal gland germ cell neoplasm" EXACT [NCIT:C6767]
synonym: "malignant pineal gland germ cell tumor" EXACT [NCIT:C6767]
synonym: "malignant pineal gland germ cell tumour" EXACT OMO:0003005 []
synonym: "malignant pineal parenchymal germ cell neoplasm" EXACT [NCIT:C6767]
synonym: "malignant pineal parenchymal germ cell tumor" EXACT [DOID:1660, NCIT:C6767]
synonym: "malignant pineal parenchymal germ cell tumour" EXACT OMO:0003005 []
synonym: "malignant pineal region germ cell neoplasm" EXACT [NCIT:C6767]
synonym: "malignant pineal region germ cell tumor" EXACT [NCIT:C6767]
synonym: "malignant pineal region germ cell tumour" EXACT OMO:0003005 []
synonym: "pineal cell tumor" RELATED [GARD:0012017]
synonym: "pineal cell tumour" RELATED OMO:0003005 []
synonym: "pineal germ cell neoplasm, malignant" EXACT [NCIT:C6767]
synonym: "pineal germ cell tumor" EXACT [DOID:1660]
synonym: "pineal germ cell tumour" EXACT OMO:0003005 []
synonym: "pineal region germ cell tumor" EXACT [DOID:1660, NCIT:C4659]
synonym: "pineal region germ cell tumour" EXACT OMO:0003005 []
synonym: "pineal region germinoma" RELATED [GARD:0012017]
xref: DOID:1660 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:233159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4659 {source="DOID:1660"}
xref: NCIT:C6767 {source="DOID:1660", source="MONDO:equivalentTo"}
xref: SCTID:277508009 {source="DOID:1660", source="MONDO:equivalentTo"}
xref: SCTID:670553017 {source="GARD:0012017"}
xref: UMLS:C1334612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233159"}
is_a: MONDO:0003249 {source="DOID:1660", source="MONDO:Redundant", source="NCIT:C6767"} ! pineal gland cancer
intersection_of: MONDO:0006290 ! malignant germ cell tumor
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0002074
name: Behcet syndrome arthropathy
def: "Arthropathy resulting from Behcet's syndrome." [NCIT:P378]
synonym: "arthropathy in Behcet's syndrome" EXACT [NCIT:C35225]
synonym: "arthropathy in Behcet's syndrome involving ankle and foot" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving forearm" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving hand" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving lower leg" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving multiple sites" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving pelvic region and thigh" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving shoulder region" EXACT [DOID:1670]
synonym: "arthropathy in Behcet's syndrome involving upper arm" EXACT [DOID:1670]
synonym: "Behcet syndrome arthropathy" EXACT [DOID:1670]
synonym: "Behcet's syndrome arthropathy" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:1670 {source="MONDO:equivalentTo"}
xref: ICD9:711.2 {source="DOID:1670"}
xref: ICD9:711.20 {source="DOID:1670", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:711.23 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:711.26 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:711.28 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:102354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35225 {source="DOID:1670", source="MONDO:equivalentTo"}
xref: SCTID:201484007 {source="DOID:1670"}
xref: SCTID:201494002 {source="DOID:1670"}
xref: SCTID:267884002 {source="DOID:1670"}
xref: SCTID:62918002 {source="DOID:1670", source="MONDO:equivalentTo"}
xref: UMLS:C0157770 {source="MEDGEN:102354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:1670", source="NCIT:C35225"} ! arthropathy

[Term]
id: MONDO:0002075
name: spontaneous tension pneumothorax
xref: DOID:1672 {source="MONDO:equivalentTo"}
xref: ICD10CM:J93.0 {source="DOID:1672", source="MONDO:equivalentTo"}
xref: ICD9:512.0 {source="DOID:1672", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196102003 {source="DOID:1672", source="MONDO:equivalentTo"}
xref: SCTID:76537003 {source="DOID:1672"}
xref: UMLS:C0155907 {source="MEDGEN:510132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002076 {source="DOID:1672"} ! pneumothorax

[Term]
id: MONDO:0002076
name: pneumothorax
def: "Abnormal presence of air in the pleural cavity." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "pneumothorax" EXACT [MONDO:ambiguous]
synonym: "pneumothorax (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1673 {source="MONDO:equivalentTo"}
xref: HP:0002107 {source="MONDO:otherHierarchy"}
xref: ICD10CM:J93.1 {source="DOID:1673"}
xref: ICD9:512.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011030 {source="MONDO:equivalentTo"}
xref: NCIT:C38006 {source="MONDO:equivalentTo"}
xref: SCTID:196103008 {source="DOID:1673"}
xref: SCTID:196105001 {source="DOID:1673"}
xref: SCTID:196251008 {source="DOID:1673"}
xref: SCTID:266367007 {source="DOID:1673"}
xref: SCTID:36118008 {source="MONDO:equivalentTo"}
xref: UMLS:C0032326 {source="MEDGEN:19365", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002037 {source="DOID:1673", source="MESH:D011030", source="NCIT:C38006/inferred"} ! pleural disorder
property_value: IAO:0000589 "pneumothorax (disease)" xsd:string

[Term]
id: MONDO:0002077
name: low implantation of placenta
xref: DOID:1677 {source="MONDO:equivalentTo"}
xref: ICD10CM:O44.0 {source="DOID:1677"}
xref: ICD9:641.0 {source="DOID:1677"}
xref: MEDGEN:510322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156099007 {source="DOID:1677"}
xref: SCTID:198897009 {source="DOID:1677"}
xref: SCTID:198898004 {source="DOID:1677"}
xref: SCTID:198902005 {source="DOID:1677"}
xref: SCTID:7792000 {source="MONDO:equivalentTo", source="DOID:1677"}
xref: UMLS:C0156617 {source="MEDGEN:510322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005918 {source="DOID:1677"} ! placenta praevia

[Term]
id: MONDO:0002078
name: heart septal defect
def: "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Cardiac septal defects" EXACT [DOID:1681]
synonym: "congenital septal defect" EXACT [NCIT:C84482]
synonym: "congenital septal defect of heart" EXACT [DOID:1681]
synonym: "holes in the heart" EXACT [NCIT:C84482]
synonym: "septal defect" EXACT [DOID:1681]
synonym: "septal defect NOS" RELATED EXCLUDE [DOID:1681]
xref: DOID:1681 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q21 {source="DOID:1681"}
xref: ICD10CM:Q21.9 {source="DOID:1681"}
xref: ICD9:745.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:745.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006343 {source="DOID:1681", source="MONDO:equivalentTo"}
xref: NCIT:C84482 {source="DOID:1681", source="MONDO:equivalentTo"}
xref: SCTID:156916001 {source="DOID:1681"}
xref: SCTID:204290008 {source="DOID:1681"}
xref: SCTID:253273004 {source="DOID:1681", source="MONDO:equivalentTo"}
xref: SCTID:287081002 {source="DOID:1681"}
xref: SCTID:396351009 {source="DOID:1681"}
xref: SCTID:59494005 {source="DOID:1681"}
xref: SCTID:8352002 {source="DOID:1681"}
xref: UMLS:C0018816 {source="MEDGEN:6752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005453 {source="DOID:1681", source="MESH:D006343", source="NCIT:C84482"} ! congenital heart disease

[Term]
id: MONDO:0002079
name: obsolete neuroendocrine tumor
is_obsolete: true
replaced_by: MONDO:0019496

[Term]
id: MONDO:0002080
name: obsolete congenital ichthyosiform erythroderma
synonym: "obsolete congenital ichthyosiform erythroderma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete congenital ichthyosiform erythroderma (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0019306

[Term]
id: MONDO:0002081
name: musculoskeletal system disorder
def: "A disease involving the musculoskeletal system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of musculoskeletal system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of musculoskeletal system" EXACT []
synonym: "disorder of musculoskeletal system" EXACT [MONDO:patterns/location_top]
synonym: "musculoskeletal disease" EXACT [DOID:17]
synonym: "musculoskeletal disorder" RELATED []
synonym: "musculoskeletal system disease" EXACT [MONDO:patterns/location]
synonym: "musculoskeletal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "musculoskeletal system disorder" EXACT [NCIT:C107377]
xref: DOID:17 {source="MONDO:equivalentTo"}
xref: EFO:0009676 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M00-M99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M95-M95 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:Q65-Q79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:729.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009140 {source="MONDO:equivalentTo", source="DOID:17"}
xref: NCIT:C107377 {source="MONDO:equivalentTo", source="DOID:17"}
xref: SCTID:156881000 {source="DOID:17"}
xref: SCTID:268047003 {source="DOID:17"}
xref: SCTID:268142006 {source="DOID:17"}
xref: SCTID:274149006 {source="DOID:17"}
xref: SCTID:928000 {source="MONDO:equivalentTo", source="DOID:17"}
xref: UMLS:C0026857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6471"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system

[Term]
id: MONDO:0002082
name: endocrine gland neoplasm
def: "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." [NCIT:C3010]
subset: otar {source="MONDO:OTAR"}
synonym: "endocrine gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endocrine gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "endocrine gland tumour" EXACT OMO:0003005 []
synonym: "endocrine neoplasm" EXACT [DOID:170, NCIT:C3010]
synonym: "endocrine system neoplasm" EXACT [NCIT:C3010]
synonym: "endocrine system tumor" EXACT [NCIT:C3010]
synonym: "endocrine system tumour" EXACT OMO:0003005 []
synonym: "endocrine tumor" EXACT [DOID:170, NCIT:C3010]
synonym: "endocrine tumour" EXACT OMO:0003005 []
synonym: "malignant endocrine tumor" NARROW [DOID:170]
synonym: "malignant endocrine tumour" NARROW OMO:0003005 []
synonym: "neoplasm of endocrine gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of endocrine gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of endocrine gland" EXACT OMO:0003005 []
xref: EFO:0003769 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3010 {source="MONDO:equivalentTo"}
xref: SCTID:387922007 {source="MONDO:equivalentTo"}
xref: UMLS:C0014132 {source="MEDGEN:4044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3010/inferred"} ! neoplasm
is_a: MONDO:0005151 {source="MONDO:Redundant", source="NCIT:C3010"} ! endocrine system disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002368 ! endocrine gland

[Term]
id: MONDO:0002083
name: Richter syndrome
def: "Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm." [NCIT:P378]
subset: gard_rare {source="GARD:7578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Richter syndrome" EXACT [DOID:1703, NCIT:C35424]
synonym: "Richter transformation" EXACT [NCIT:C35424]
synonym: "Richter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C35424]
synonym: "Richter's transformation" EXACT [NCIT:C35424]
xref: DOID:1703 {source="MONDO:equivalentTo"}
xref: GARD:7578 {source="MONDO:GARD"}
xref: ICD10CM:C91.1 {source="DOID:1703"}
xref: MEDGEN:91159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35424 {source="MONDO:equivalentTo", source="DOID:1703"}
xref: SCTID:277550009 {source="MONDO:equivalentTo", source="DOID:1703"}
xref: UMLS:C0349631 {source="MONDO:equivalentTo", source="MEDGEN:91159", source="MONDO:MEDGEN"}
is_a: MONDO:0021058 {source="NCIT:C35424"} ! neoplastic syndrome
relationship: disease_arises_from_feature MONDO:0004948 {source="DOID:1703"} ! B-cell chronic lymphocytic leukemia
relationship: excluded_subClassOf MONDO:0004948 {source="DOID:1703", source="https://orcid.org/0000-0001-5208-3432"} ! B-cell chronic lymphocytic leukemia

[Term]
id: MONDO:0002084
name: obsolete neuroectodermal tumor
is_obsolete: true
replaced_by: MONDO:0005462

[Term]
id: MONDO:0002085
name: benign shuddering attacks
xref: DOID:1713 {source="MONDO:equivalentTo"}
xref: ICD10CM:G25.83 {source="MONDO:equivalentTo", source="DOID:1713"}
xref: ICD9:333.93 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1713"}
xref: MEDGEN:580931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:446995005 {source="MONDO:equivalentTo", source="DOID:1713"}
xref: UMLS:C0375200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:580931"}
is_a: MONDO:0005395 {source="DOID:1713"} ! movement disorder

[Term]
id: MONDO:0002086
name: clear cell acanthoma
def: "An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm." [NCIT:P378]
synonym: "clear cell acanthoma (morphologic abnormality)" EXACT [DOID:172]
synonym: "Degos acanthoma" EXACT [NCIT:C97041]
synonym: "pale (clear cell) acanthoma" EXACT [DOID:172, NCIT:C4085]
xref: DOID:172 {source="MONDO:equivalentTo"}
xref: MEDGEN:83098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049309 {source="DOID:172"}
xref: NCIT:C97041 {source="DOID:172", source="MONDO:equivalentTo"}
xref: SCTID:254670002 {source="DOID:172", source="MONDO:equivalentTo"}
xref: SCTID:65540008 {source="DOID:172"}
xref: UMLS:C0333992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83098"}
is_a: MONDO:0002093 {source="NCIT:C97041"} ! acanthoma
is_a: MONDO:0002531 {source="DOID:172", source="MONDO:Redundant", source="NCIT:C97041/inferred"} ! skin neoplasm
is_a: MONDO:0021634 {source="MONDO:Entailed", source="NCIT:C97041/inferred"} ! epithelial skin neoplasm

[Term]
id: MONDO:0002087
name: peritoneum cancer
def: "A malignant neoplasm involving the peritoneum" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of peritoneum" EXACT [DOID:1725, MONDO:patterns/cancer]
synonym: "cancer of the peritoneum" EXACT [NCIT:C3538]
synonym: "malignant neoplasm of peritoneum" EXACT [MONDO:patterns/cancer]
synonym: "malignant peritoneal neoplasm" EXACT [NCIT:C3538]
synonym: "malignant peritoneum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "peritoneal cancer" EXACT [NCIT:C3538]
synonym: "peritoneal cavity cancer" EXACT [NCIT:C3538]
synonym: "peritoneal neoplasm" RELATED [DOID:1725]
synonym: "peritoneum cancer" EXACT [MONDO:patterns/location]
xref: DOID:1725 {source="MONDO:equivalentTo"}
xref: ICD10CM:C48.1 {source="DOID:1725"}
xref: ICD9:158.8 {source="DOID:1725"}
xref: ICD9:158.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:159.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:102270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3538 {source="MONDO:equivalentTo"}
xref: SCTID:187808008 {source="DOID:1725"}
xref: SCTID:187816004 {source="DOID:1725"}
xref: SCTID:363492001 {source="MONDO:equivalentTo"}
xref: UMLS:C0153467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102270"}
is_a: MONDO:0004992 {source="DOID:1725", source="DOID:1725/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0006901 {source="MONDO:Redundant", source="NCIT:C3538"} ! peritoneal neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0002088
name: partial retinal vein occlusion
synonym: "partial occlusion of retinal vein" EXACT [DOID:1726]
synonym: "partial retinal vein occlusion" EXACT [DOID:1726, NCIT:C35341]
xref: DOID:1726 {source="MONDO:equivalentTo"}
xref: ICD10CM:H34.82 {source="DOID:1726"}
xref: MEDGEN:78753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35341 {source="MONDO:equivalentTo", source="DOID:1726"}
xref: SCTID:65593009 {source="MONDO:equivalentTo", source="DOID:1726"}
xref: UMLS:C0271080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78753"}
is_a: MONDO:0006951 {source="DOID:1726", source="NCIT:C35341"} ! retinal vein occlusion

[Term]
id: MONDO:0002089
name: retinal vascular occlusion
def: "An occlusion of the retinal vasculature." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "retinal vasc. occlusion" RELATED EXCLUDE [DOID:1729]
synonym: "retinal vascular occlusion" EXACT [DOID:1729, NCIT:C34980]
synonym: "retinal vascular occlusion, unspecified" EXACT [DOID:1729, ICD9CM:362.30]
xref: DOID:1729 {source="MONDO:equivalentTo"}
xref: ICD10CM:H34 {source="DOID:1729", source="MONDO:equivalentTo"}
xref: ICD10CM:H34.9 {source="DOID:1729"}
xref: ICD9:362.3 {source="DOID:1729"}
xref: ICD9:362.30 {source="DOID:1729", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:19762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34980 {source="DOID:1729", source="MONDO:equivalentTo"}
xref: SCTID:155111000 {source="DOID:1729"}
xref: SCTID:193373007 {source="DOID:1729"}
xref: SCTID:193380009 {source="DOID:1729"}
xref: SCTID:267717005 {source="DOID:1729"}
xref: SCTID:73757007 {source="DOID:1729", source="MONDO:equivalentTo"}
xref: UMLS:C0035326 {source="MEDGEN:19762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002311 {source="NCIT:C34980"} ! retinal vascular disorder
intersection_of: MONDO:0020672 ! vascular occlusion disorder
intersection_of: disease_has_location UBERON:0000966 ! retina
relationship: disease_has_location UBERON:0004864 ! vasculature of retina
relationship: excluded_subClassOf MONDO:0005294 {source="DOID:1729", source="https://orcid.org/0000-0001-5208-3432"} ! peripheral vascular disease

[Term]
id: MONDO:0002090
name: eccrine sweat gland neoplasm
def: "A neoplasm involving a eccrine sweat gland." [MONDO:patterns/neoplasm]
subset: otar {source="MONDO:OTAR"}
synonym: "eccrine neoplasm" EXACT [NCIT:C6796]
synonym: "eccrine neoplasm of skin" EXACT [NCIT:C6796]
synonym: "eccrine neoplasm of the skin" EXACT [NCIT:C6796]
synonym: "eccrine skin neoplasm" EXACT [DOID:173, NCIT:C6796]
synonym: "eccrine skin tumor" EXACT [NCIT:C6796]
synonym: "eccrine skin tumour" EXACT OMO:0003005 []
synonym: "eccrine sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "eccrine sweat gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "eccrine sweat gland tumour" EXACT OMO:0003005 []
synonym: "eccrine tumor" EXACT [DOID:173, NCIT:C6796]
synonym: "eccrine tumor of skin" EXACT [NCIT:C6796]
synonym: "eccrine tumor of the skin" EXACT [NCIT:C6796]
synonym: "eccrine tumour" EXACT OMO:0003005 []
synonym: "eccrine tumour of skin" EXACT OMO:0003005 []
synonym: "eccrine tumour of the skin" EXACT OMO:0003005 []
synonym: "neoplasm of eccrine sweat gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of eccrine sweat gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of eccrine sweat gland" EXACT OMO:0003005 []
xref: DOID:173 {source="MONDO:equivalentTo"}
xref: MEDGEN:234213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6796 {source="MONDO:equivalentTo", source="DOID:173"}
xref: UMLS:C1333371 {source="MONDO:equivalentTo", source="MEDGEN:234213", source="MONDO:MEDGEN"}
is_a: MONDO:0002381 {source="DOID:173", source="MONDO:Redundant", source="NCIT:C6796"} ! sweat gland neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000423 ! eccrine sweat gland

[Term]
id: MONDO:0002091
name: obsolete cryptosporidiosis
is_obsolete: true
replaced_by: MONDO:0015474

[Term]
id: MONDO:0002092
name: small intestine leiomyoma
def: "A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of small bowel" EXACT [NCIT:C7725]
synonym: "leiomyoma of small intestine" EXACT [NCIT:C7725]
synonym: "leiomyoma of the small bowel" EXACT [NCIT:C7725]
synonym: "leiomyoma of the small intestine" EXACT [NCIT:C7725]
synonym: "leiomyoma, small bowel" EXACT [DOID:1738, NCIT:C7725]
synonym: "leiomyoma, small intestine" EXACT [NCIT:C7725]
synonym: "small bowel leiomyoma" EXACT [NCIT:C7725]
synonym: "small intestinal leiomyoma" EXACT [NCIT:C7725]
synonym: "small intestine leiomyoma" EXACT [MONDO:patterns/location, NCIT:C7725]
xref: DOID:1738 {source="MONDO:equivalentTo"}
xref: MEDGEN:68660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7725 {source="MONDO:equivalentTo", source="DOID:1738"}
xref: SCTID:424279009 {source="MONDO:equivalentTo", source="DOID:1738"}
xref: UMLS:C0238197 {source="MEDGEN:68660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001572 {source="DOID:1738", source="MONDO:Redundant", source="NCIT:C7725"} ! leiomyoma
is_a: MONDO:0003062 {source="MONDO:Redundant", source="NCIT:C7725/inferred"} ! intestinal benign neoplasm
is_a: MONDO:0004251 {source="DOID:1738", source="MONDO:Redundant", source="NCIT:C7725/inferred"} ! small intestine neoplasm
is_a: MONDO:0021501 {source="MONDO:Redundant", source="NCIT:C7725"} ! benign neoplasm of small intestine
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0002093
name: acanthoma
def: "A benign skin neoplasm composed of epithelial cells." [NCIT:C7419]
subset: otar {source="MONDO:OTAR"}
synonym: "acanthoma" EXACT [MONDO:ambiguous, NCIT:C7419]
synonym: "acanthoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:174 {source="MONDO:equivalentTo"}
xref: HP:0025432 {source="MONDO:otherHierarchy"}
xref: MEDGEN:208851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049309 {source="MONDO:equivalentTo", source="DOID:174"}
xref: NCIT:C7419 {source="MONDO:equivalentTo", source="DOID:174"}
xref: UMLS:C0846967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208851"}
is_a: MONDO:0024666 {source="NCIT:C7419"} ! benign epithelial skin neoplasm
relationship: excluded_subClassOf MONDO:0002532 {source="DOID:174", source="MESH:D049309", source="https://orcid.org/0000-0001-5208-3432"} ! squamous cell neoplasm
property_value: IAO:0000589 "acanthoma (disease)" xsd:string

[Term]
id: MONDO:0002094
name: obsolete conjunctival squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006173

[Term]
id: MONDO:0002095
name: vascular cancer
def: "A malignant neoplasm arising from the blood vessels." [NCIT:C8538]
comment: Editor note: see also NCIT:C7390
subset: ordo_group_of_disorders {source="Orphanet:673466"}
subset: otar {source="MONDO:OTAR"}
synonym: "blood vessel neoplasm" BROAD [DOID:175, NCIT:C7387]
synonym: "blood vessel tumor" BROAD [DOID:175]
synonym: "blood vessel tumor (morphologic abnormality)" BROAD [DOID:175]
synonym: "blood vessel tumor disorder" BROAD [DOID:175]
synonym: "blood vessel tumors" BROAD [DOID:175]
synonym: "blood vessel tumors (morphologic abnormality)" BROAD [DOID:175]
synonym: "blood vessel tumour" BROAD OMO:0003005 []
synonym: "blood vessel tumour (morphologic abnormality)" BROAD OMO:0003005 []
synonym: "blood vessel tumour disorder" BROAD OMO:0003005 []
synonym: "blood vessel tumours" BROAD OMO:0003005 []
synonym: "blood vessel tumours (morphologic abnormality)" BROAD OMO:0003005 []
synonym: "cancer of vasculature" EXACT [MONDO:patterns/cancer]
synonym: "Haemangiomatous tumor" BROAD [DOID:175]
synonym: "Haemangiomatous tumour" BROAD OMO:0003005 []
synonym: "leiomyosarcoma of the renal vein" NARROW [DOID:175, NCIT:C5388]
synonym: "malignant blood vessel neoplasm" EXACT [NCIT:C8538]
synonym: "malignant blood vessel tumor" EXACT [NCIT:C8538]
synonym: "malignant blood vessel tumour" EXACT OMO:0003005 []
synonym: "malignant great vessel tumor" RELATED EXCLUDE [DOID:175]
synonym: "malignant great vessel tumour" RELATED OMO:0003005 []
synonym: "malignant neoplasm of vasculature" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of pulmonary artery" NARROW [DOID:175, NCIT:C5380]
synonym: "malignant tumor of pulmonary vein" NARROW [DOID:175, NCIT:C5383]
synonym: "malignant tumour of pulmonary artery" NARROW OMO:0003005 []
synonym: "malignant tumour of pulmonary vein" NARROW OMO:0003005 []
synonym: "malignant vascular neoplasm" EXACT [DOID:175]
synonym: "malignant vascular tumor" EXACT [DOID:175, NCIT:C7390]
synonym: "malignant vascular tumour" EXACT OMO:0003005 []
synonym: "malignant vasculature neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of great vessel" BROAD [DOID:175]
synonym: "pulmonary artery cancer" EXACT [MONDO:patterns/location]
synonym: "pulmonary artery malignant neoplasm" EXACT [DOID:175]
synonym: "pulmonary vein malignant neoplasm" EXACT [DOID:175]
synonym: "renal vein leiomyosarcoma" RELATED [DOID:175]
synonym: "vascular tissue neoplasm" RELATED [DOID:175]
synonym: "vascular tumors" BROAD [DOID:175, NCIT:C7388]
synonym: "vascular tumours" BROAD OMO:0003005 []
synonym: "vasculature cancer" EXACT []
xref: DOID:175 {source="MONDO:equivalentTo"}
xref: MEDGEN:264315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009383 {source="MONDO:equivalentTo"}
xref: MESH:D019043 {source="DOID:175"}
xref: NCIT:C5348 {source="DOID:175"}
xref: NCIT:C5380 {source="DOID:175"}
xref: NCIT:C5383 {source="DOID:175"}
xref: NCIT:C5388 {source="DOID:175"}
xref: NCIT:C7388 {source="DOID:175"}
xref: NCIT:C7390 {source="DOID:175"}
xref: NCIT:C8538 {source="MONDO:equivalentTo"}
xref: Orphanet:673466 {source="MONDO:equivalentTo"}
xref: SCTID:126737003 {source="DOID:175"}
xref: SCTID:93817006 {source="DOID:175"}
xref: UMLS:C1458139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:264315"}
is_a: MONDO:0002100 {source="DOID:175", source="MONDO:Redundant", source="NCIT:C8538/inferred"} ! cardiovascular cancer
is_a: MONDO:0021080 {source="MONDO:Entailed", source="NCIT:C8538"} ! blood vessel neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002049 ! vasculature
relationship: excluded_subClassOf MONDO:0000473 {source="DOID:175", source="https://orcid.org/0000-0001-5208-3432"} ! arterial disorder

[Term]
id: MONDO:0002096
name: malignant conjunctival melanoma
def: "A malignant melanoma within the conjunctiva of the eye." [NCIT:C4550]
subset: gard_rare {source="GARD:10744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617910"}
subset: orphanet_rare {source="Orphanet:617910"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CM" RELATED ABBREVIATION [ONCOTREE:CM]
synonym: "conjunctiva melanoma" EXACT [NCIT:C4550]
synonym: "conjunctiva melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "conjunctival malignant melanoma" EXACT [MONDO:0002096]
synonym: "conjunctival melanoma" EXACT [NCIT:C4550]
synonym: "malignant conjunctiva melanoma" EXACT [NCIT:C4550]
synonym: "malignant conjunctival melanoma" EXACT [NCIT:C4550]
synonym: "malignant melanoma of conjunctiva" EXACT [NCIT:C4550]
synonym: "malignant melanoma of the conjunctiva" EXACT [NCIT:C4550]
synonym: "melanoma (disease) of conjunctiva" EXACT []
synonym: "melanoma of conjunctiva" EXACT [NCIT:C4550]
synonym: "melanoma of the conjunctiva" EXACT [NCIT:C4550]
xref: DOID:1751 {source="MONDO:equivalentTo"}
xref: EFO:1000204 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10744 {source="MONDO:GARD"}
xref: MEDGEN:138060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4550 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CM {source="MONDO:equivalentTo"}
xref: Orphanet:617910 {source="MONDO:equivalentTo"}
xref: SCTID:255004001 {source="DOID:1751", source="MONDO:equivalentTo"}
xref: UMLS:C0346360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138060"}
is_a: MONDO:0003454 {source="DOID:1751", source="MONDO:Redundant", source="NCIT:C4550"} ! conjunctival cancer
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C4550", source="ONCOTREE:CM"} ! ocular melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0002097
name: obsolete ocular melanoma
is_obsolete: true
replaced_by: MONDO:0006325

[Term]
id: MONDO:0002098
name: facial nerve disorder
def: "A disease involving the facial nerve." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of facial nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of facial nerve" EXACT []
synonym: "disorder of facial nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of seventh cranial nerve" RELATED []
synonym: "disorders of the seventh nerve" RELATED []
synonym: "disorders of the VIIth cranial nerve" RELATED []
synonym: "facial nerve disease" EXACT [MONDO:patterns/location]
synonym: "facial nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "facial nerve disorder" EXACT []
synonym: "facial neuropathy" RELATED []
xref: DOID:1756 {source="MONDO:equivalentTo"}
xref: EFO:1002051 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G51 {source="MONDO:equivalentTo", source="DOID:1756"}
xref: ICD10CM:G51.9 {source="DOID:1756"}
xref: ICD9:351 {source="DOID:1756"}
xref: ICD9:351.9 {source="DOID:1756"}
xref: MEDGEN:41946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005155 {source="MONDO:equivalentTo", source="DOID:1756"}
xref: NCIT:C27594 {source="MONDO:equivalentTo", source="DOID:1756"}
xref: SCTID:155069009 {source="DOID:1756"}
xref: SCTID:155071009 {source="DOID:1756"}
xref: SCTID:193097005 {source="DOID:1756"}
xref: SCTID:230543003 {source="DOID:1756"}
xref: SCTID:267704007 {source="DOID:1756"}
xref: SCTID:422426003 {source="MONDO:equivalentTo", source="DOID:1756"}
xref: SCTID:90039006 {source="DOID:1756"}
xref: UMLS:C0015464 {source="MEDGEN:41946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003569 {source="DOID:1756", source="MESH:D005155", source="MONDO:Redundant", source="NCIT:C27594"} ! cranial nerve neuropathy
is_a: MONDO:0003620 {source="DOID:1756/inferred", source="MONDO:Redundant"} ! peripheral nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001647 ! facial nerve

[Term]
id: MONDO:0002099
name: Histoplasma capsulatum infectious disease
def: "An disease or disorder caused by infection with Histoplasma capsulatum." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "American histoplasmosis" RELATED []
synonym: "classical histoplasmosis" RELATED []
synonym: "darling's disease" RELATED []
synonym: "Histoplasma capsulatum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma capsulatum disease or disorder" EXACT []
synonym: "infection by Histoplasma capsulatum" EXACT []
synonym: "infection caused by Histoplasma capsulatum" RELATED []
synonym: "small form histoplasmosis" RELATED []
xref: DOID:1759 {source="MONDO:equivalentTo"}
xref: ICD10CM:B39.4 {source="DOID:1759"}
xref: ICD9:115.0 {source="DOID:1759"}
xref: ICD9:115.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: SCTID:187036002 {source="DOID:1759"}
xref: SCTID:187037006 {source="DOID:1759"}
xref: SCTID:187046000 {source="DOID:1759"}
xref: SCTID:76255006 {source="MONDO:equivalentTo", source="DOID:1759"}
is_a: MONDO:0018312 {source="DOID:1759", source="MONDO:Redundant"} ! histoplasmosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5037 ! Histoplasma capsulatum

[Term]
id: MONDO:0002100
name: cardiovascular cancer
def: "A primary or metastatic malignant neoplasm involving the cardiovascular system." [NCIT:C114940]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of cardiovascular system" EXACT [MONDO:patterns/cancer]
synonym: "cardiovascular neoplasm" BROAD [DOID:176]
synonym: "cardiovascular system cancer" EXACT []
synonym: "cardiovascular tumors" EXACT [DOID:176]
synonym: "cardiovascular tumours" EXACT OMO:0003005 []
synonym: "malignant cardiovascular neoplasm" EXACT [NCIT:C114940]
synonym: "malignant cardiovascular system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cardiovascular system" EXACT [MONDO:patterns/cancer]
xref: DOID:176 {source="MONDO:equivalentTo"}
xref: MEDGEN:858066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114940 {source="MONDO:equivalentTo"}
xref: NCIT:C4784 {source="DOID:176"}
xref: UMLS:C3898472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:858066"}
is_a: MONDO:0004992 {source="DOID:176", source="DOID:176/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0024757 {source="MONDO:Redundant", source="NCIT:C114940"} ! cardiovascular neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system

[Term]
id: MONDO:0002101
name: facial nerve neoplasm
def: "A neoplasm involving a facial nerve." [MONDO:patterns/neoplasm]
synonym: "facial nerve neoplasm" EXACT [NCIT:C5827]
synonym: "facial nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "facial nerve neoplasms" EXACT [NCIT:C5827]
synonym: "facial nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5827]
synonym: "facial nerve tumors" EXACT [NCIT:C5827]
synonym: "facial nerve tumour" EXACT OMO:0003005 []
synonym: "facial nerve tumours" EXACT OMO:0003005 []
synonym: "neoplasm of Facial nerve" EXACT [NCIT:C5827]
synonym: "neoplasm of facial nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of seventh cranial nerve" EXACT [NCIT:C5827]
synonym: "neoplasm of the Facial nerve" EXACT [NCIT:C5827]
synonym: "neoplasm of the seventh cranial nerve" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve neoplasm" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve neoplasms" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve tumor" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve tumors" EXACT [NCIT:C5827]
synonym: "seventh cranial nerve tumour" EXACT OMO:0003005 []
synonym: "seventh cranial nerve tumours" EXACT OMO:0003005 []
synonym: "tumor of Facial nerve" EXACT [DOID:1760, NCIT:C5827]
synonym: "tumor of facial nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of seventh cranial nerve" EXACT [NCIT:C5827]
synonym: "tumor of the Facial nerve" EXACT [NCIT:C5827]
synonym: "tumor of the seventh cranial nerve" EXACT [NCIT:C5827]
synonym: "tumour of Facial nerve" EXACT OMO:0003005 []
synonym: "tumour of facial nerve" EXACT OMO:0003005 []
synonym: "tumour of seventh cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the Facial nerve" EXACT OMO:0003005 []
synonym: "tumour of the seventh cranial nerve" EXACT OMO:0003005 []
synonym: "VIIth cranial nerve neoplasms" EXACT [NCIT:C5827]
synonym: "VIIth cranial nerve tumors" EXACT [NCIT:C5827]
synonym: "VIIth cranial nerve tumours" EXACT OMO:0003005 []
xref: DOID:1760 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5827 {source="DOID:1760", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126973004 {source="DOID:1760", source="MONDO:equivalentTo"}
xref: UMLS:C1263899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224733"}
is_a: MONDO:0002633 {source="DOID:1760", source="MONDO:Redundant", source="NCIT:C5827"} ! cranial nerve neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001647 ! facial nerve

[Term]
id: MONDO:0002102
name: cheilitis
def: "An inflammatory process affecting the lip." [NCIT:C79545]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of lip" EXACT []
synonym: "lip inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:1762 {source="MONDO:equivalentTo"}
xref: HP:0100825 {source="DOID:1762", source="MONDO:otherHierarchy"}
xref: ICD10CM:K13.0 {source="DOID:1762"}
xref: MEDGEN:3349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002613 {source="DOID:1762", source="MONDO:equivalentTo"}
xref: NCIT:C79545 {source="DOID:1762", source="MONDO:equivalentTo"}
xref: SCTID:155664000 {source="DOID:1762"}
xref: SCTID:196557006 {source="DOID:1762"}
xref: SCTID:266495008 {source="DOID:1762"}
xref: SCTID:7847004 {source="DOID:1762", source="MONDO:equivalentTo"}
xref: UMLS:C0007971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3349"}
is_a: MONDO:0004748 {source="DOID:1762", source="MESH:D002613", source="MONDO:Redundant", source="NCIT:C79545/inferred"} ! lip disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001833 ! lip

[Term]
id: MONDO:0002103
name: factitious disorder
def: "A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors." [NCIT:C92198]
synonym: "Munchausen syndrome" EXACT [DOID:1766]
xref: DOID:1766 {source="MONDO:equivalentTo"}
xref: ICD10CM:F68.11 {source="DOID:1766"}
xref: ICD9:300.16 {source="DOID:1766"}
xref: ICD9:300.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009110 {source="MONDO:equivalentTo"}
xref: NCIT:C92198 {source="MONDO:equivalentTo"}
xref: SCTID:31122002 {source="DOID:1766"}
xref: SCTID:430751001 {source="DOID:1766"}
xref: SCTID:50705009 {source="MONDO:equivalentTo"}
xref: UMLS:C0015480 {source="MONDO:equivalentTo", source="MEDGEN:4632", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="DOID:1766", source="MESH:D009110/inferred", source="NCIT:C92198"} ! psychiatric disorder

[Term]
id: MONDO:0002104
name: conversion disorder
def: "Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve." [https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder]
synonym: "conversion hysteria or reaction" EXACT [DOID:1768]
synonym: "conversion hysterical neurosis" EXACT [DOID:1768, MTH:NOCODE]
synonym: "FND" RELATED ABBREVIATION [GARD:0006191]
synonym: "functional movement disorder" RELATED [GARD:0006191]
synonym: "functional neurological disorder" RELATED [GARD:0006191]
synonym: "hysterical neurosis, conversion type" EXACT [DOID:1768]
xref: DOID:1768 {source="MONDO:equivalentTo"}
xref: ICD10CM:F44 {source="DOID:1768"}
xref: ICD9:300.11 {source="DOID:1768"}
xref: MEDGEN:3230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003291 {source="MONDO:equivalentTo", source="DOID:1768"}
xref: SCTID:20734000 {source="DOID:1768"}
xref: SCTID:44376007 {source="DOID:1768"}
xref: SCTID:89239005 {source="DOID:1768"}
xref: UMLS:C0009946 {source="MEDGEN:3230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003117 {source="DOID:1768", source="MESH:D003291"} ! somatoform disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder" xsd:anyURI {source="GARD:0006191"}

[Term]
id: MONDO:0002105
name: toxic megacolon
def: "An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis." [MESH:D008532]
xref: DOID:1770 {source="MONDO:equivalentTo"}
xref: ICD10CM:K59.3 {source="DOID:1770"}
xref: ICD10CM:K59.31 {source="MONDO:equivalentTo"}
xref: ICD9:564.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008532 {source="DOID:1770", source="MONDO:equivalentTo"}
xref: SCTID:28536002 {source="DOID:1770", source="MONDO:equivalentTo"}
xref: UMLS:C0025162 {source="MEDGEN:9940", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001273 {source="DOID:1770", source="MESH:D008532"} ! megacolon

[Term]
id: MONDO:0002106
name: labyrinthine unilateral reactive loss
synonym: "loss of labyrinthine reactivity, unilateral" EXACT [DOID:1776, ICD9CM:386.55]
synonym: "unilateral loss of labyrinthine reactivity" EXACT [DOID:1776]
xref: DOID:1776 {source="MONDO:equivalentTo"}
xref: ICD9:386.55 {source="DOID:1776"}
xref: MEDGEN:510005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194376005 {source="DOID:1776"}
xref: SCTID:43000004 {source="DOID:1776"}
xref: UMLS:C0155519 {source="MONDO:equivalentTo", source="MEDGEN:510005", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:1776", source="https://github.com/monarch-initiative/mondo/issues/389"} ! inner ear disorder

[Term]
id: MONDO:0002107
name: unilateral hyperactive labyrinth
synonym: "hyperactive labyrinth, unilateral" EXACT [DOID:1777, ICD9CM:386.51]
synonym: "hyperactive unilateral labyrinthine dysfunction" EXACT [DOID:1777]
xref: DOID:1777 {source="MONDO:equivalentTo"}
xref: ICD9:386.51 {source="DOID:1777"}
xref: MEDGEN:510001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111542008 {source="DOID:1777"}
xref: SCTID:194372007 {source="DOID:1777"}
xref: UMLS:C0155515 {source="MEDGEN:510001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:1777", source="https://github.com/monarch-initiative/mondo/issues/389"} ! inner ear disorder

[Term]
id: MONDO:0002108
name: thyroid cancer
def: "A malignant neoplasm involving the thyroid gland" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of thyroid gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the thyroid" EXACT [NCIT:C7510]
synonym: "malignant neoplasm of the thyroid gland" EXACT [NCIT:C7510]
synonym: "malignant neoplasm of thyroid" EXACT [NCIT:C7510]
synonym: "malignant neoplasm of thyroid gland" EXACT [DOID:1781, ICD9CM:193, MONDO:patterns/cancer, NCIT:C7510]
synonym: "malignant thyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7510]
synonym: "malignant thyroid gland tumor" EXACT [NCIT:C7510]
synonym: "malignant thyroid gland tumour" EXACT OMO:0003005 []
synonym: "malignant thyroid neoplasm" EXACT [NCIT:C7510]
synonym: "malignant thyroid tumor" EXACT [NCIT:C7510]
synonym: "malignant thyroid tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of the thyroid" EXACT [NCIT:C7510]
synonym: "malignant tumor of the thyroid gland" EXACT [NCIT:C7510]
synonym: "malignant tumor of thyroid" EXACT [NCIT:C7510]
synonym: "malignant tumor of thyroid gland" EXACT [DOID:1781, NCIT:C7510]
synonym: "malignant tumour of the thyroid" EXACT OMO:0003005 []
synonym: "malignant tumour of the thyroid gland" EXACT OMO:0003005 []
synonym: "malignant tumour of thyroid" EXACT OMO:0003005 []
synonym: "malignant tumour of thyroid gland" EXACT OMO:0003005 []
synonym: "neoplasm of thyroid gland" BROAD [DOID:1781]
synonym: "thyroid gland cancer" EXACT [MONDO:patterns/location]
synonym: "thyroid gland neoplasm" BROAD [DOID:1781]
synonym: "thyroid neoplasm" BROAD EXCLUDE [DOID:1781]
xref: DOID:1781 {source="MONDO:equivalentTo"}
xref: ICD10CM:C73 {source="DOID:1781"}
xref: ICD10CM:C73-C75 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:193 {source="DOID:1781", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013964 {source="DOID:1781"}
xref: NANDO:2200074 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7510 {source="DOID:1781", source="MONDO:equivalentTo"}
xref: SCTID:127018007 {source="DOID:1781"}
xref: SCTID:154554008 {source="DOID:1781"}
xref: SCTID:363478007 {source="DOID:1781", source="MONDO:equivalentTo"}
xref: SCTID:94098005 {source="DOID:1781"}
xref: UMLS:C0007115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2869"}
is_a: MONDO:0003240 {source="DOID:1781", source="MONDO:Redundant", source="NCIT:C7510/inferred"} ! thyroid gland disorder
is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C7510"} ! thyroid tumor
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0002109
name: pituitary cancer
def: "A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract." [NCIT:C4769]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of pituitary gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pituitary" EXACT [NCIT:C4769]
synonym: "malignant neoplasm of pituitary gland" EXACT [MONDO:patterns/cancer, NCIT:C4769]
synonym: "malignant neoplasm of the pituitary" EXACT [NCIT:C4769]
synonym: "malignant neoplasm of the pituitary gland" EXACT [NCIT:C4769]
synonym: "malignant pituitary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4769]
synonym: "malignant pituitary gland tumor" EXACT [NCIT:C4769]
synonym: "malignant pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant pituitary neoplasm" EXACT [DOID:1785, NCIT:C4769]
synonym: "malignant pituitary tumor" EXACT [NCIT:C4769]
synonym: "malignant pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of pituitary" EXACT [NCIT:C4769]
synonym: "malignant tumor of pituitary gland" EXACT [NCIT:C4769]
synonym: "malignant tumor of the pituitary" EXACT [NCIT:C4769]
synonym: "malignant tumor of the pituitary gland" EXACT [NCIT:C4769]
synonym: "malignant tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "neoplasm of pituitary gland" RELATED EXCLUDE [DOID:1785]
synonym: "pituitary cancer" EXACT []
synonym: "pituitary gland cancer" EXACT [DOID:1785]
synonym: "pituitary gland neoplasm" BROAD [DOID:1785, NCIT:C3330]
synonym: "pituitary neoplasm" BROAD [DOID:1785]
synonym: "pituitary neoplasms, malignant" EXACT [NCIT:C4769]
synonym: "pituitary tumor, malignant" EXACT [NCIT:C4769]
xref: DOID:1785 {source="MONDO:equivalentTo"}
xref: EFO:0005578 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C75.1 {source="DOID:1785"}
xref: MEDGEN:96922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010911 {source="DOID:1785"}
xref: NCIT:C3330 {source="DOID:1785"}
xref: NCIT:C4769 {source="MONDO:equivalentTo", source="DOID:1785"}
xref: SCTID:127024001 {source="DOID:1785"}
xref: SCTID:363482009 {source="MONDO:equivalentTo", source="DOID:1785"}
xref: SCTID:93964007 {source="DOID:1785"}
xref: UMLS:C0496842 {source="MEDGEN:96922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002071 {source="MONDO:Redundant", source="NCIT:C4769"} ! supratentorial cancer
is_a: MONDO:0003381 {source="DOID:1785", source="MONDO:Redundant", source="NCIT:C4769/inferred"} ! pituitary gland disorder
is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C4769"} ! pituitary tumor
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland

[Term]
id: MONDO:0002110
name: adrenal rest tumor
def: "A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia." [NCIT:P378]
synonym: "adrenal rest neoplasm" EXACT [DOID:1786, NCIT:C2860]
synonym: "adrenal rest tumor" EXACT [NCIT:C2860]
xref: DOID:1786 {source="MONDO:equivalentTo"}
xref: ICDO:8671/0 {source="NCIT:C2860"}
xref: MEDGEN:7902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000314 {source="DOID:1786", source="MONDO:equivalentTo"}
xref: NCIT:C2860 {source="DOID:1786", source="MONDO:equivalentTo"}
xref: SCTID:54292009 {source="DOID:1786"}
xref: UMLS:C0001630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7902"}
is_a: MONDO:0000383 {source="NCIT:C2860"} ! benign reproductive system neoplasm
relationship: excluded_subClassOf MONDO:0000627 {source="DOID:1786", source="https://orcid.org/0000-0001-5208-3432"} ! benign endocrine neoplasm

[Term]
id: MONDO:0002111
name: obsolete peritoneal mesothelioma
is_obsolete: true
replaced_by: MONDO:0006362

[Term]
id: MONDO:0002112
name: benign peritoneal mesothelioma
def: "A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent." [NCIT:C7354]
synonym: "mesothelioma of peritoneum" BROAD [DOID:1789, NCIT:C7633]
synonym: "peritoneal adenomatoid tumor" EXACT [NCIT:C7354]
synonym: "peritoneal adenomatoid tumour" EXACT OMO:0003005 []
synonym: "peritoneum benign mesothelioma" EXACT [MONDO:patterns/location]
xref: DOID:1789 {source="MONDO:equivalentTo"}
xref: MEDGEN:87540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7354 {source="MONDO:equivalentTo"}
xref: NCIT:C7633 {source="DOID:1789"}
xref: UMLS:C0346113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87540"}
is_a: MONDO:0006362 {source="MONDO:Redundant", source="NCIT:C7354", source="https://orcid.org/0000-0002-6601-2165"} ! peritoneal mesothelioma
intersection_of: MONDO:0002373 ! benign mesothelioma
intersection_of: disease_has_location UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0002113
name: peritoneal carcinoma
def: "A peritoneum cancer that is located in the inside of the abdomen." [DOID:1791]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of peritoneum" EXACT [MONDO:patterns/carcinoma]
synonym: "peritoneum carcinoma" EXACT [MONDO:patterns/location]
synonym: "primary peritoneal carcinoma" NARROW [DOID:1791]
xref: DOID:1791 {source="MONDO:equivalentTo"}
xref: MEDGEN:756216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40022 {source="DOID:1791", source="MONDO:relatedTo"}
xref: SCTID:447781009 {source="MONDO:equivalentTo"}
xref: UMLS:C3163804 {source="MEDGEN:756216", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0002114
name: pancreas lymphoma
def: "A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas." [NCIT:C5714]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoma of pancreas" EXACT [DOID:1792, NCIT:C5714]
synonym: "lymphoma of the pancreas" EXACT [NCIT:C5714]
synonym: "pancreas lymphoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic lymphoma" EXACT [NCIT:C5714]
xref: DOID:1792 {source="MONDO:equivalentTo"}
xref: MEDGEN:233304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5714 {source="DOID:1792", source="MONDO:equivalentTo"}
xref: UMLS:C1335307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233304"}
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C5714"} ! gastrointestinal lymphoma
is_a: MONDO:0005062 {source="DOID:1792", source="MONDO:Redundant", source="NCIT:C5714/inferred"} ! lymphoma
is_a: MONDO:0009831 {source="DOID:1792", source="MONDO:Redundant", source="NCIT:C5714"} ! malignant pancreatic neoplasm
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0002115
name: obsolete pancreatic cancer
is_obsolete: true
replaced_by: MONDO:0009831

[Term]
id: MONDO:0002116
name: malignant exocrine pancreas neoplasm
def: "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." [NCIT:C7430]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of exocrine pancreas" EXACT [MONDO:patterns/cancer]
synonym: "exocrine pancreas cancer" EXACT [MONDO:patterns/location]
synonym: "malignant exocrine pancreas neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7430]
synonym: "malignant exocrine pancreas tumor" EXACT [NCIT:C7430]
synonym: "malignant exocrine pancreas tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of exocrine pancreas" EXACT [MONDO:patterns/cancer, NCIT:C7430]
synonym: "malignant neoplasm of the exocrine pancreas" EXACT [DOID:1795, NCIT:C7430]
synonym: "malignant tumor of exocrine pancreas" EXACT [DOID:1795, NCIT:C7430]
synonym: "malignant tumor of the exocrine pancreas" EXACT [NCIT:C7430]
synonym: "malignant tumour of exocrine pancreas" EXACT OMO:0003005 []
synonym: "malignant tumour of the exocrine pancreas" EXACT OMO:0003005 []
synonym: "pancreatic exocrine tumor" BROAD [DOID:1795]
synonym: "pancreatic exocrine tumour" BROAD OMO:0003005 []
synonym: "tumor of exocrine pancreas" RELATED [DOID:1795]
synonym: "tumour of exocrine pancreas" RELATED OMO:0003005 []
xref: DOID:1795 {source="MONDO:equivalentTo"}
xref: MEDGEN:91108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7430 {source="MONDO:equivalentTo"}
xref: SCTID:254604005 {source="DOID:1795"}
xref: SCTID:255088001 {source="DOID:1795", source="MONDO:equivalentTo"}
xref: UMLS:C0346648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91108"}
is_a: MONDO:0009831 {source="DOID:1795", source="MONDO:Redundant", source="NCIT:C7430"} ! malignant pancreatic neoplasm
is_a: MONDO:0021076 {source="MONDO:Redundant", source="NCIT:C7430"} ! pancreatic exocrine neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000017 ! exocrine pancreas

[Term]
id: MONDO:0002117
name: pancreas sarcoma
def: "A rare malignant soft tissue neoplasm that occurs primarily in the pancreas." [NCIT:C5715]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pancreas sarcoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic sarcoma" EXACT [NCIT:C5715]
synonym: "sarcoma of pancreas" EXACT [DOID:1796, MONDO:patterns/sarcoma, NCIT:C5715]
synonym: "sarcoma of the pancreas" EXACT [NCIT:C5715]
xref: DOID:1796 {source="MONDO:equivalentTo"}
xref: MEDGEN:202112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5715 {source="MONDO:equivalentTo", source="DOID:1796"}
xref: UMLS:C1096346 {source="MEDGEN:202112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DOID:1796", source="MONDO:Entailed", source="NCIT:C5715/inferred"} ! sarcoma
is_a: MONDO:0009831 {source="DOID:1796", source="MONDO:Redundant", source="NCIT:C5715"} ! malignant pancreatic neoplasm
is_a: MONDO:0018078 {source="NCIT:C5715"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0002118
name: urinary system disorder
def: "A disease involving the renal system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of renal system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of renal system" EXACT []
synonym: "disease, urinary tract" EXACT [MESH:D014570]
synonym: "disease, urologic" EXACT [MESH:D014570]
synonym: "disease, urological" EXACT [MESH:D014570]
synonym: "diseases, urinary tract" EXACT [MESH:D014570]
synonym: "diseases, urologic" EXACT [MESH:D014570]
synonym: "diseases, urological" EXACT [MESH:D014570]
synonym: "disorder of renal system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the urinary system" EXACT []
synonym: "disorder of urinary system" EXACT [NCIT:C3430]
synonym: "non-neoplastic urinary tract disease" EXACT [DOID:18, NCIT:C27599]
synonym: "renal disease" RELATED EXCLUDE [DOID:18]
synonym: "renal system disease" EXACT [MONDO:patterns/location]
synonym: "renal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urinary disease" EXACT [DOID:18]
synonym: "urinary system disease" EXACT []
synonym: "urinary system disorder" EXACT []
synonym: "urinary tract disease" EXACT [DOID:18, MESH:D014570]
synonym: "urinary tract diseases" EXACT [MESH:D014570]
synonym: "urinary tract disorder" EXACT [NCIT:C3430]
synonym: "urologic disease" EXACT [MESH:D014570]
synonym: "urologic disorder" EXACT [NCIT:C3430]
synonym: "urological disease" EXACT [MESH:D014570]
synonym: "urological diseases" EXACT [MESH:D014570]
synonym: "urological disorder" EXACT []
synonym: "urological disorders" EXACT [NCIT:C3430]
xref: DOID:18 {source="MONDO:equivalentTo"}
xref: EFO:0009690 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N30-N39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:V47.4 {source="MONDO:RelatedTo", source="MONDO:i2s"}
xref: MEDGEN:21791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014570 {source="MONDO:equivalentTo"}
xref: NCIT:C27599 {source="DOID:18"}
xref: NCIT:C3430 {source="MONDO:equivalentTo"}
xref: SCTID:128606002 {source="MONDO:equivalentTo"}
xref: UMLS:C0042075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21791"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0001008 ! renal system

[Term]
id: MONDO:0002119
name: ossifying fibroma
def: "A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="NORD:111729", source="MONDO:NORD"}
subset: rare
synonym: "Cementifying fibroma" EXACT [NCIT:C8422]
synonym: "cemento-ossifying fibroma" EXACT [NCIT:C8422]
synonym: "fibro-osteoma" EXACT [DOID:180]
synonym: "fibroma, ossifying, benign" EXACT [NCIT:C8422]
synonym: "Juvenile Ossifying Fibroma" NARROW [NORD:111729]
synonym: "juvenile ossifying fibroma" NARROW [GARD:0012792]
synonym: "ossifying fibroma" EXACT [MONDO:ambiguous]
synonym: "ossifying fibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "peripheral ossifying fibroma" RELATED [DOID:180]
xref: DOID:180 {source="MONDO:equivalentTo"}
xref: HP:0030426 {source="MONDO:otherHierarchy"}
xref: ICDO:9262/0 {source="NCIT:C8422"}
xref: ICDO:9274/0 {source="NCIT:C8422"}
xref: MEDGEN:104906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018214 {source="DOID:180", source="MONDO:equivalentTo"}
xref: NCIT:C173820 {source="MONDO:equivalentTo"}
xref: NCIT:C8422 {source="DOID:180", source="MONDO:equivalentTo"}
xref: NORD:111729 {source="MONDO:NORD"}
xref: SCTID:189896007 {source="DOID:180"}
xref: SCTID:25603007 {source="DOID:180"}
xref: SCTID:302862001 {source="DOID:180"}
xref: SCTID:302863006 {source="DOID:180"}
xref: SCTID:80699009 {source="DOID:180"}
xref: UMLS:C0206640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104906"}
is_a: MONDO:0000631 {source="DOID:180"} ! bone benign neoplasm
relationship: disease_has_feature HP:0001548 ! Overgrowth
property_value: IAO:0000589 "ossifying fibroma (disease)" xsd:string

[Term]
id: MONDO:0002120
name: neuroendocrine carcinoma
def: "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma." [NCIT:C3773]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEC" EXACT ABBREVIATION [NCIT:C3773]
synonym: "neuroendocrine cancer" EXACT [NCIT:C3773]
synonym: "neuroendocrine cancer, NOS" RELATED EXCLUDE [NCIT:C3773]
synonym: "neuroendocrine carcinoma" EXACT [NCIT:C3773]
xref: DOID:1800 {source="MONDO:equivalentTo"}
xref: ICDO:8246/3 {source="NCIT:C3773"}
xref: MEDGEN:104919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018278 {source="MONDO:equivalentTo", source="DOID:1800"}
xref: NCIT:C3773 {source="MONDO:equivalentTo", source="DOID:1800", source="MONDO:exact-label-match"}
xref: SCTID:253000007 {source="MONDO:equivalentTo", source="DOID:1800"}
xref: SCTID:55937004 {source="DOID:1800"}
xref: UMLS:C0206695 {source="MEDGEN:104919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="DOID:1800", source="MESH:D018278/inferred", source="MONDO:Redundant", source="NCIT:C3773"} ! carcinoma
is_a: MONDO:0019496 {source="MESH:D018278", source="MONDO:Redundant", source="NCIT:C3773"} ! neuroendocrine neoplasm
is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C3773"} ! malignant endocrine neoplasm
intersection_of: MONDO:0004993 {source="NCIT:C3773"} ! carcinoma
intersection_of: MONDO:0019496 {source="NCIT:C3773"} ! neuroendocrine neoplasm
intersection_of: MONDO:0021069 {source="NCIT:C3773"} ! malignant endocrine neoplasm

[Term]
id: MONDO:0002121
name: mononeuritis simplex
def: "Neuritis of a single nerve." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mononeuritis" EXACT []
xref: DOID:1802 {source="MONDO:equivalentTo"}
xref: ICD9:355.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1802"}
xref: MEDGEN:65914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193155002 {source="DOID:1802"}
xref: SCTID:267600005 {source="DOID:1802"}
xref: SCTID:32595002 {source="MONDO:equivalentTo", source="DOID:1802"}
xref: UMLS:C0235880 {source="MONDO:equivalentTo", source="MEDGEN:65914", source="MONDO:MEDGEN"}
is_a: MONDO:0001397 {source="DOID:1802"} ! mononeuropathy
is_a: MONDO:0002122 {source="DOID:1802"} ! neuritis

[Term]
id: MONDO:0002122
name: neuritis
def: "A neuropathy arising from inflammation of one or more nerves." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nerve inflammation" EXACT []
synonym: "peripheral neuritis" EXACT [DOID:1803]
xref: DOID:1803 {source="MONDO:equivalentTo"}
xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009443 {source="MONDO:equivalentTo", source="DOID:1803"}
xref: NCIT:C116381 {source="MONDO:equivalentTo", source="DOID:1803"}
xref: SCTID:123254001 {source="DOID:1803"}
xref: SCTID:128192007 {source="MONDO:equivalentTo", source="DOID:1803"}
xref: SCTID:203116001 {source="DOID:1803"}
xref: SCTID:247378004 {source="DOID:1803"}
xref: SCTID:84299009 {source="MONDO:equivalentObsolete", source="DOID:1803"}
xref: UMLS:C0027813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14344"}
is_a: MONDO:0005244 {source="DOID:1803", source="MONDO:Redundant", source="NCIT:C116381"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_has_inflammation_site UBERON:0001021 ! nerve

[Term]
id: MONDO:0002123
name: calcinosis
def: "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "calcification" EXACT [NCIT:C3672]
synonym: "calcium deposit(s)" EXACT [NCIT:C3672]
synonym: "deposit(s), calcium" EXACT [NCIT:C3672]
synonym: "macrocalcification" EXACT [NCIT:C3672]
synonym: "pathologic calcification" EXACT [DOID:182]
synonym: "pathologically calcified structure" EXACT [DOID:182]
xref: DOID:182 {source="MONDO:equivalentTo"}
xref: HP:0003761 {source="MONDO:otherHierarchy"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002114 {source="MONDO:equivalentTo", source="DOID:182"}
xref: NCIT:C3672 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:182"}
xref: SCTID:190863003 {source="DOID:182"}
xref: SCTID:237881004 {source="DOID:182"}
xref: SCTID:6595006 {source="MONDO:equivalentTo", source="DOID:182"}
xref: UMLS:C0006663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:709"}
is_a: MONDO:0005557 {source="DOID:182", source="MESH:D002114"} ! calcium metabolic disease

[Term]
id: MONDO:0002124
name: secondary lacrimal atrophy
synonym: "consecutive atrophy of lacrimal gland" RELATED []
synonym: "secondary atrophy of lacrimal gland" RELATED []
synonym: "secondary lacrimal atrophy" EXACT []
xref: DOID:1822 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.15 {source="DOID:1822"}
xref: ICD9:375.14 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1822"}
xref: MEDGEN:572969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193979004 {source="DOID:1822"}
xref: SCTID:75068001 {source="MONDO:equivalentTo", source="DOID:1822"}
xref: UMLS:C0339121 {source="MEDGEN:572969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001854 {source="DOID:1822"} ! lacrimal apparatus disorder

[Term]
id: MONDO:0002125
name: status epilepticus
def: "A life-threatening situation in which the brain is in a continuous state of seizure." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "GCSE" RELATED ABBREVIATION [GARD:0010191]
synonym: "generalised convulsive status epilepticus" RELATED OMO:0003005 []
synonym: "generalized convulsive status epilepticus" RELATED [GARD:0010191]
synonym: "grand mal status" EXACT [DOID:1824]
synonym: "SE" RELATED ABBREVIATION [GARD:0010191]
xref: DOID:1824 {source="MONDO:equivalentTo"}
xref: EFO:0008526 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:11586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013226 {source="MONDO:equivalentTo", source="DOID:1824"}
xref: NCIT:C85079 {source="MONDO:equivalentTo", source="DOID:1824"}
xref: SCTID:13973009 {source="DOID:1824"}
xref: SCTID:155039002 {source="DOID:1824"}
xref: SCTID:192998006 {source="DOID:1824"}
xref: SCTID:193019007 {source="DOID:1824"}
xref: SCTID:194499008 {source="DOID:1824"}
xref: SCTID:230456007 {source="MONDO:equivalentTo", source="DOID:1824"}
xref: UMLS:C0038220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11586"}
is_a: MONDO:0005027 {source="DOID:1824", source="EFO:0008526", source="MESH:D013226"} ! epilepsy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10191/status-epilepticus" xsd:anyURI {source="GARD:0010191"}

[Term]
id: MONDO:0002126
name: obsolete childhood absence epilepsy
is_obsolete: true
replaced_by: MONDO:0010826

[Term]
id: MONDO:0002127
name: urethral stricture
def: "Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms." [MESH:D014525]
synonym: "urethral stricture" EXACT [MONDO:ambiguous]
synonym: "urethral stricture (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1829 {source="MONDO:equivalentTo"}
xref: HP:0012227 {source="MONDO:otherHierarchy"}
xref: ICD9:598.8 {source="DOID:1829", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:598.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1641821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014525 {source="MONDO:equivalentTo"}
xref: NCIT:C79821 {source="MONDO:equivalentTo"}
xref: SCTID:76618002 {source="MONDO:equivalentTo"}
xref: UMLS:C4551691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641821"}
is_a: MONDO:0001556 {source="DOID:1829", source="MESH:D014525"} ! urethral obstruction
property_value: IAO:0000589 "urethral stricture (disease)" xsd:string

[Term]
id: MONDO:0002128
name: mononeuritis multiplex
def: "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome." [NCIT:C70938]
subset: gard_rare {source="GARD:7056", source="MONDO:GARD"}
subset: rare
synonym: "mononeuritis multiplex" EXACT [DOID:1835, ICD9CM:354.5, NCIT:C70938]
xref: DOID:1835 {source="MONDO:equivalentTo"}
xref: GARD:7056 {source="MONDO:GARD"}
xref: ICD10CM:G58.7 {source="MONDO:equivalentTo", source="DOID:1835"}
xref: ICD9:354.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1835"}
xref: MEDGEN:101790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C70938 {source="MONDO:equivalentTo", source="DOID:1835"}
xref: SCTID:30292005 {source="MONDO:equivalentTo", source="DOID:1835"}
xref: UMLS:C0151295 {source="MEDGEN:101790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003607 {source="DOID:1835"} ! neuritis of upper limb
is_a: MONDO:0005244 {source="DOID:1835/inferred", source="MONDO:Redundant", source="NCIT:C70938"} ! peripheral neuropathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex" xsd:anyURI {source="GARD:0007056"}

[Term]
id: MONDO:0002129
name: bone cancer
def: "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." [NCIT:C4016]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone cancer" EXACT [NCIT:C4016]
synonym: "bone cancer, NOS" RELATED EXCLUDE [NCIT:C4016]
synonym: "bone neoplasm" BROAD [DOID:184]
synonym: "bone tumor" BROAD [DOID:184]
synonym: "bone tumour" BROAD OMO:0003005 []
synonym: "CA - bone cancer" EXACT [DOID:184]
synonym: "cancer of bone" EXACT [NCIT:C4016]
synonym: "cancer of skeletal element" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the bone" EXACT [NCIT:C4016]
synonym: "malignant bone neoplasm" EXACT [DOID:184, NCIT:C4016]
synonym: "malignant bone tumor" EXACT [DOID:184, NCIT:C4016]
synonym: "malignant bone tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of bone" EXACT [DOID:184, NCIT:C4016]
synonym: "malignant neoplasm of skeletal element" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the bone" EXACT [NCIT:C4016]
synonym: "malignant osseous neoplasm" EXACT [NCIT:C4016]
synonym: "malignant osseous tumor" EXACT [DOID:184, NCIT:C4016]
synonym: "malignant osseous tumour" EXACT OMO:0003005 []
synonym: "malignant skeletal element neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of bone" EXACT [NCIT:C4016]
synonym: "malignant tumor of the bone" EXACT [NCIT:C4016]
synonym: "malignant tumour of bone" EXACT OMO:0003005 []
synonym: "malignant tumour of the bone" EXACT OMO:0003005 []
synonym: "neoplasm of bone" BROAD EXCLUDE [DOID:184]
synonym: "osseous cancer" EXACT [NCIT:C4016]
synonym: "osseous tumor" BROAD [DOID:184, NCIT:C9343]
synonym: "osseous tumour" BROAD OMO:0003005 []
synonym: "skeletal element cancer" EXACT [MONDO:patterns/location]
xref: CSP:2019-1041 {source="DOID:184"}
xref: DOID:184 {source="MONDO:equivalentTo"}
xref: EFO:1000350 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:79002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001859 {source="MONDO:equivalentTo", source="DOID:184"}
xref: NCIT:C4016 {source="MONDO:equivalentTo"}
xref: NCIT:C9343 {source="DOID:184"}
xref: SCTID:115239009 {source="DOID:184"}
xref: SCTID:126537000 {source="DOID:184"}
xref: SCTID:240201007 {source="DOID:184"}
xref: SCTID:428281000 {source="MONDO:equivalentTo"}
xref: UMLS:C0279530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79002"}
is_a: MONDO:0019060 {source="NCIT:C4016"} ! bone neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0004765 ! skeletal element

[Term]
id: MONDO:0002130
name: upper limb mononeuronitis
def: "A disease affecting a single peripheral nerve of the upper limb." [http://bestpractice.bmj.com/topics/en-us/771]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "forelimb mononeuritis simplex" EXACT [MONDO:patterns/location]
synonym: "mononeuritis of upper limb" EXACT [DOID:1844]
synonym: "mononeuritis of upper limb, unspecified" EXACT [DOID:1844, ICD9CM:354.9]
synonym: "mononeuritis simplex of forelimb" EXACT [MONDO:design_pattern]
synonym: "mononeuritis upper limb" EXACT [DOID:1844]
xref: DOID:1844 {source="MONDO:equivalentTo"}
xref: ICD9:354.9 {source="DOID:1844"}
xref: SCTID:193143008 {source="DOID:1844"}
xref: SCTID:58850003 {source="DOID:1844"}
is_a: MONDO:0003607 {source="DOID:1844", source="MONDO:Entailed", source="MONDO:Redundant"} ! neuritis of upper limb
intersection_of: MONDO:0002121 ! mononeuritis simplex
intersection_of: disease_has_location UBERON:0002102 ! forelimb

[Term]
id: MONDO:0002131
name: jaw cancer
def: "A malignant neoplasm involving the jaw skeleton" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of jaw skeleton" EXACT [MONDO:patterns/cancer]
synonym: "jaw neoplasm" BROAD [DOID:1862]
synonym: "jaw skeleton cancer" EXACT [MONDO:patterns/location]
synonym: "malignant jaw skeleton neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of jaw skeleton" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of jaw" BROAD [DOID:1862]
xref: DOID:1862 {source="MONDO:equivalentTo"}
xref: MEDGEN:155838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007573 {source="MONDO:equivalentTo", source="DOID:1862"}
xref: SCTID:126634001 {source="MONDO:relatedTo", source="DOID:1862"}
xref: UMLS:C0751255 {source="MEDGEN:155838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001708 ! jaw skeleton

[Term]
id: MONDO:0002132
name: skull cancer
def: "A malignant neoplasm involving the skull." [https://orcid.org/0000-0002-6601-2165]
comment: editors note: NCIT:C155790 refers to malignant tumors of the pituitary, tumors located in the sellar region and maxillofaciale tumors; MONDO:0002132 additionally refers to mandibular and orbital tumors as well as tumors of the paranasal sinus.
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of skull" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of skull" EXACT [MONDO:patterns/cancer]
synonym: "malignant skull neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "skull cancer" EXACT [MONDO:patterns/location]
xref: DOID:1863 {source="MONDO:equivalentTo"}
xref: MEDGEN:1662558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012888 {source="DOID:1863"}
xref: NCIT:C155790 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: SCTID:126538005 {source="MONDO:relatedTo", source="DOID:1863"}
xref: UMLS:C2062986 {source="MEDGEN:1662558", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002129 {source="DOID:1863", source="MONDO:Redundant"} ! bone cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003129 ! skull

[Term]
id: MONDO:0002133
name: chronic rheumatic pericarditis
def: "Chronic form of rheumatic pericarditis." [MONDO:patterns/chronic]
synonym: "rheumatic pericarditis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: DOID:1869 {source="MONDO:equivalentTo"}
xref: ICD10CM:I09.2 {source="MONDO:equivalentTo", source="DOID:1869"}
xref: ICD9:393 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1869"}
xref: MEDGEN:510021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155287003 {source="DOID:1869"}
xref: SCTID:194719006 {source="DOID:1869"}
xref: SCTID:194723003 {source="DOID:1869"}
xref: SCTID:78069008 {source="MONDO:equivalentTo", source="DOID:1869"}
xref: UMLS:C0155561 {source="MEDGEN:510021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005904 {source="DOID:1869"} ! pericarditis
intersection_of: MONDO:0024655 ! rheumatic pericarditis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0002134
name: physiological sexual disorder
def: "Physiological disturbances in normal sexual performance in either the male or the female." [MESH:D012735]
subset: otar {source="MONDO:OTAR"}
synonym: "physiological sexual disorder" EXACT [MESH:D012735]
synonym: "physiological sexual disorders" RELATED [MESH:D012735]
synonym: "physiological sexual dysfunction" EXACT [MESH:D012735]
synonym: "physiological sexual dysfunctions" RELATED [MESH:D012735]
synonym: "Sex disorders" BROAD [MESH:D012735]
synonym: "sexual disorder, physiological" RELATED [MESH:D012735]
synonym: "sexual disorders, physiological" RELATED [MESH:D012735]
synonym: "sexual dysfunction" BROAD [DOID:1876]
synonym: "sexual dysfunctions, physiological" RELATED [MESH:D012735]
xref: DOID:1876 {source="MONDO:equivalentTo"}
xref: ICD10CM:F52.9 {source="DOID:1876"}
xref: ICD10CM:R37 {source="DOID:1876"}
xref: MEDGEN:66756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012735 {source="MONDO:equivalentTo", source="DOID:1876"}
xref: NCIT:C3347 {source="MONDO:otherHierarchy", source="DOID:1876", source="MONDO:exact-label-match"}
xref: SCTID:225723003 {source="DOID:1876"}
xref: SCTID:231532002 {source="DOID:1876"}
xref: SCTID:39894007 {source="DOID:1876"}
xref: SCTID:56925008 {source="DOID:1876"}
xref: SCTID:65655009 {source="DOID:1876"}
xref: UMLS:C0237873 {source="MEDGEN:66756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://github.com/monarch-initiative/mondo/issues/723", source="https://orcid.org/0000-0001-5208-3432"} ! reproductive system disorder
relationship: excluded_subClassOf MONDO:0000595 {source="DOID:1876", source="https://orcid.org/0000-0001-5208-3432"} ! sexual and gender identity disorders

[Term]
id: MONDO:0002135
name: optic nerve disorder
def: "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." [NCIT:C79698]
subset: otar {source="MONDO:OTAR"}
synonym: "cranial nerve II disease" EXACT [MONDO:patterns/location]
synonym: "cranial nerve II disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of cranial nerve II" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cranial nerve II" EXACT []
synonym: "disorder of cranial nerve II" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the second nerve" EXACT [DOID:1891]
synonym: "optic nerve disorder" EXACT [DOID:1891, NCIT:C79698]
synonym: "optic neuropathy" EXACT [DOID:1891]
synonym: "second cranial nerve disorder" EXACT [NCIT:C79698]
xref: DOID:1891 {source="MONDO:equivalentTo"}
xref: ICD10CM:H46-H47 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:377.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:377.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:854546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009901 {source="DOID:1891", source="MONDO:equivalentTo"}
xref: NCIT:C79698 {source="DOID:1891", source="MONDO:equivalentTo"}
xref: Orphanet:519351 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:194037001 {source="DOID:1891"}
xref: SCTID:267741008 {source="DOID:1891"}
xref: SCTID:77157004 {source="DOID:1891", source="MONDO:equivalentTo"}
xref: UMLS:C3887709 {source="MEDGEN:854546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003569 {source="DOID:1891", source="MESH:D009901", source="MONDO:Redundant", source="NCIT:C79698"} ! cranial nerve neuropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000941 ! cranial nerve II

[Term]
id: MONDO:0002136
name: eczematous dermatitis of eyelid
xref: DOID:1893 {source="MONDO:equivalentTo"}
xref: ICD10CM:H01.13 {source="DOID:1893"}
xref: ICD9:373.31 {source="DOID:1893", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:36259009 {source="DOID:1893", source="MONDO:equivalentTo"}
xref: UMLS:C0155177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509832"}
is_a: MONDO:0002137 {source="DOID:1893"} ! noninfectious dermatoses of eyelid
relationship: disease_has_feature HP:0000964 ! Eczematoid dermatitis

[Term]
id: MONDO:0002137
name: noninfectious dermatoses of eyelid
synonym: "non-infected eyelid dermatoses" EXACT [DOID:1894]
xref: DOID:1894 {source="MONDO:equivalentTo"}
xref: ICD10CM:H01.1 {source="DOID:1894"}
xref: ICD9:373.3 {source="DOID:1894"}
xref: MEDGEN:509831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111524003 {source="DOID:1894", source="MONDO:equivalentTo"}
xref: SCTID:193919009 {source="DOID:1894"}
xref: UMLS:C0155176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509831"}
is_a: MONDO:0004785 {source="DOID:1894"} ! blepharitis

[Term]
id: MONDO:0002138
name: allergic contact dermatitis of eyelid
def: "A allergic contact dermatitis that involves the eyelid." [MONDO:patterns/location]
synonym: "contact and allergic dermatitis of eyelid" EXACT [DOID:1895, ICD9CM:373.32]
synonym: "eyelid allergic contact dermatitis" EXACT [MONDO:patterns/location]
xref: DOID:1895 {source="MONDO:equivalentTo"}
xref: ICD9:373.32 {source="DOID:1895"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:402249007 {source="MONDO:equivalentTo", source="DOID:1895"}
xref: UMLS:C0155178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509833"}
is_a: MONDO:0002137 {source="DOID:1895"} ! noninfectious dermatoses of eyelid
is_a: MONDO:0006525 {source="DOID:1895", source="MONDO:Redundant"} ! allergic contact dermatitis
intersection_of: MONDO:0006525 ! allergic contact dermatitis
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0002139
name: sigmoid disease
def: "Pathological processes in the sigmoid colon region of the large intestine (intestine, large)." [MESH:D012810]
xref: DOID:1897 {source="MONDO:equivalentTo"}
xref: MEDGEN:20752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012810 {source="MONDO:equivalentTo", source="DOID:1897"}
xref: UMLS:C0037072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20752"}
is_a: MONDO:0003409 {source="DOID:1897", source="MESH:D012810"} ! colonic disorder

[Term]
id: MONDO:0002140
name: vagina sarcoma
def: "A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma." [NCIT:C7737]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sarcoma of the vagina" EXACT [DOID:1901, NCIT:C7737]
synonym: "sarcoma of vagina" EXACT [MONDO:patterns/sarcoma, NCIT:C7737]
synonym: "vagina sarcoma" EXACT [MONDO:patterns/location, NCIT:C7737]
synonym: "vaginal sarcoma" EXACT [NCIT:C7737]
xref: DOID:1901 {source="MONDO:equivalentTo"}
xref: MEDGEN:65971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7737 {source="MONDO:equivalentTo", source="DOID:1901"}
xref: UMLS:C0238519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65971"}
is_a: MONDO:0001402 {source="DOID:1901", source="MONDO:Redundant", source="NCIT:C7737"} ! vaginal cancer
is_a: MONDO:0005089 {source="DOID:1901", source="MONDO:Entailed", source="NCIT:C7737/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C7737"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0002141
name: cutaneous undifferentiated pleomorphic sarcoma
def: "An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." [NCIT:C5576]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous malignant fibrous histiocytoma" EXACT [NCIT:C5576]
synonym: "cutaneous unclassified pleomorphic sarcoma" EXACT [NCIT:C5576]
synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"malignant fibrous histiocytoma\")" EXACT [NCIT:C5576]
synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"MFH\")" EXACT [NCIT:C5576]
synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)" EXACT [NCIT:C5576]
synonym: "cutaneous undifferentiated pleomorphic sarcoma" EXACT [NCIT:C5576]
synonym: "malignant cutaneous fibrous histiocytoma" EXACT [NCIT:C5576]
synonym: "malignant fibrous histiocytoma of skin" EXACT [NCIT:C5576]
synonym: "malignant fibrous histiocytoma of the skin" EXACT [NCIT:C5576]
synonym: "malignant skin fibrous histiocytoma" EXACT [NCIT:C5576]
synonym: "undifferentiated pleomorphic sarcoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "vaginal melanoma" RELATED EXCLUDE [DOID:1906]
synonym: "zone of skin undifferentiated pleomorphic sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1906 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5576 {source="DOID:1906", source="MONDO:equivalentTo"}
xref: SCTID:404014008 {source="DOID:1906", source="MONDO:equivalentTo"}
xref: UMLS:C1275254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224813"}
is_a: MONDO:0002142 {source="MONDO:Redundant", source="NCIT:C5576"} ! undifferentiated pleomorphic sarcoma
is_a: MONDO:0003363 {source="DOID:1906", source="MONDO:Redundant", source="NCIT:C5576/inferred"} ! malignant dermis tumor
is_a: MONDO:0006414 {source="MONDO:Redundant", source="NCIT:C5576"} ! skin sarcoma
intersection_of: MONDO:0002142 ! undifferentiated pleomorphic sarcoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002142
name: undifferentiated pleomorphic sarcoma
alt_id: MONDO:0016069
def: "An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma." [NCIT:C4247]
subset: gard_rare {source="GARD:6963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2023"}
subset: orphanet_rare {source="Orphanet:2023"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult malignant fibrous histiocytoma" EXACT [NCIT:C114541]
synonym: "adult unclassified pleomorphic sarcoma" EXACT [NCIT:C114541]
synonym: "adult undifferentiated pleomorphic sarcoma" EXACT [NCIT:C114541]
synonym: "fibrous histiocytoma, malignant" EXACT [DOID:1907]
synonym: "fibrous histiocytoma, malignant (morphologic abnormality)" EXACT [DOID:1907]
synonym: "fibroxanthosarcoma" EXACT [DOID:1907, NCIT:C4247]
synonym: "fibroxanthosarcoma (morphologic abnormality)" EXACT [DOID:1907]
synonym: "histiocytoma, fibrous, malignant" EXACT [NCIT:C4247]
synonym: "malignant fibrohistiocytic tumors" RELATED [GARD:0006963]
synonym: "malignant fibrohistiocytic tumours" RELATED OMO:0003005 []
synonym: "malignant fibrous cytoma" EXACT [NCIT:C4247]
synonym: "malignant fibrous histiocytoma" EXACT [GARD:0006963, NCIT:C4247]
synonym: "malignant fibrous histiocytoma of soft tissue and bone" EXACT [NCIT:C4247]
synonym: "malignant fibrous histiocytoma of the soft tissue and bone" EXACT [NCIT:C4247]
synonym: "malignant fibroxanthoma" EXACT [NCIT:C4247]
synonym: "MFH" EXACT ABBREVIATION [DOID:1907, NCIT:C4247]
synonym: "Storiform-pleomorphic fibrous histiocytoma" EXACT [NCIT:C4247]
synonym: "Storiform-pleomorphic malignant fibrous histiocytoma" EXACT [NCIT:C4247]
synonym: "Storiform-pleomorphic MFH" EXACT [NCIT:C4247]
synonym: "unclassified pleomorphic sarcoma" EXACT [NCIT:C4247]
synonym: "Unclassified Pleomorphic sarcoma (formerly \"malignant fibrous histiocytoma\")" EXACT [NCIT:C4247]
synonym: "Unclassified Pleomorphic sarcoma (formerly \"MFH\")" EXACT [NCIT:C4247]
synonym: "undifferentiated pleomorphic sarcoma" EXACT [NCIT:C4247]
synonym: "undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma" RELATED [ONCOTREE:MFH]
synonym: "undifferentiated pleomorphic soft tissue sarcoma" EXACT [NCIT:C4247]
synonym: "UPS" EXACT ABBREVIATION [NCIT:C4247, Orphanet:2023]
xref: DOID:1907 {source="MONDO:equivalentTo"}
xref: EFO:1001972 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6963 {source="MONDO:GARD"}
xref: HGNC:16982 {source="GARD:0006963"}
xref: ICD10CM:C49.9 {source="Orphanet:2023", source="Orphanet:2023/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8830/3 {source="NCIT:C4247"}
xref: MedDRA:10025552 {source="Orphanet:2023", source="Orphanet:2023/e"}
xref: MEDGEN:87248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D051677 {source="Orphanet:2023", source="DOID:1907", source="MONDO:equivalentTo", source="Orphanet:2023/e"}
xref: NCIT:C114541 {source="MONDO:equivalentTo"}
xref: NCIT:C4247 {source="DOID:1907", source="MONDO:equivalentTo"}
xref: ONCOTREE:MFH {source="MONDO:equivalentTo"}
xref: Orphanet:2023 {source="MONDO:equivalentTo"}
xref: SCTID:189772005 {source="DOID:1907"}
xref: SCTID:253040001 {source="DOID:1907"}
xref: SCTID:34360000 {source="DOID:1907"}
xref: SCTID:443439001 {source="DOID:1907", source="MONDO:equivalentTo"}
xref: UMLS:C0334463 {source="MEDGEN:87248", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005509 {source="DOID:1907", source="MESH:D051677"} ! histiocytoma
is_a: MONDO:0018078 {source="EFO:1001972", source="NCIT:C114541/inferred", source="NCIT:C4247/inferred", source="Orphanet:2023"} ! soft tissue sarcoma
is_a: MONDO:0021054 {source="Orphanet:2023"} ! bone sarcoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma" xsd:anyURI {source="GARD:0006963"}

[Term]
id: MONDO:0002143
name: vaginal yolk sac tumor
def: "A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge." [NCIT:C6379]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "vaginal endodermal sinus neoplasm" EXACT [DOID:1910, NCIT:C6379]
synonym: "vaginal endodermal sinus tumor" EXACT [NCIT:C6379]
synonym: "vaginal endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "vaginal yolk Sac neoplasm" EXACT [DOID:1910, NCIT:C6379]
synonym: "vaginal yolk Sac tumor" EXACT [NCIT:C6379]
synonym: "vaginal yolk Sac tumour" EXACT OMO:0003005 []
synonym: "yolk sac tumor" RELATED [ONCOTREE:VYST]
synonym: "yolk sac tumour" RELATED OMO:0003005 []
xref: DOID:1910 {source="MONDO:equivalentTo"}
xref: MEDGEN:234985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6379 {source="MONDO:equivalentTo", source="DOID:1910", source="MONDO:exact-label-match"}
xref: ONCOTREE:VYST {source="MONDO:equivalentTo"}
xref: UMLS:C1336945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234985"}
is_a: MONDO:0001402 {source="DOID:1910", source="MONDO:Redundant", source="NCIT:C6379"} ! vaginal cancer
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C6379"} ! yolk sac tumor
intersection_of: MONDO:0005744 ! yolk sac tumor
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0002144
name: obsolete hyperuricemia
synonym: "blood urate raized" EXACT [DOID:1920]
synonym: "hyperuricemia" EXACT [MONDO:ambiguous]
synonym: "obsolete hyperuricemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "uricacidemia" EXACT [DOID:1920]
xref: DOID:1920 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:790.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D033461 {source="MONDO:obsoleteEquivalent", source="DOID:1920"}
xref: NCIT:C3961 {source="MONDO:otherHierarchy", source="DOID:1920"}
xref: SCTID:144021008 {source="DOID:1920"}
xref: SCTID:166733000 {source="DOID:1920"}
xref: SCTID:237857006 {source="DOID:1920"}
xref: SCTID:271198001 {source="DOID:1920"}
xref: SCTID:35885006 {source="MONDO:obsoleteEquivalent", source="DOID:1920"}
property_value: IAO:0000589 "obsolete hyperuricemia (disease)" xsd:string
is_obsolete: true
replaced_by: HP:0002149

[Term]
id: MONDO:0002145
name: disorder of sexual differentiation
def: "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." [NCIT:C103186]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:90771"}
subset: otar {source="MONDO:OTAR"}
synonym: "CARD" BROAD ABBREVIATION [NCIT:C103186]
synonym: "conditions affecting reproductive development" EXACT [NCIT:C103186]
synonym: "differences of sex development" EXACT [NCIT:C103186]
synonym: "disorder of sex development" EXACT [MONDO:0019592]
synonym: "disorder of sex differentiation" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of sexual differentiation" EXACT [NCIT:C103186]
synonym: "disorders of sex development" EXACT [NCIT:C103186]
synonym: "disorders of sex development (DSD)" RELATED [GTR:AN1172969]
synonym: "DSD" BROAD ABBREVIATION [Orphanet:90771]
synonym: "intersex" EXACT [NCIT:C103186]
synonym: "intersex conditions" EXACT [NCIT:C103186]
synonym: "sex differentiation disease" EXACT [DOID:1923]
synonym: "sex differentiation disorder" EXACT [DOID:1923]
synonym: "sexual differentiation disorder" EXACT [NCIT:C103186]
xref: DOID:1923 {source="MONDO:equivalentTo"}
xref: GTR:AN1172969
xref: MedDRA:10070597 {source="Orphanet:90771", source="Orphanet:90771/e"}
xref: MEDGEN:415936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012734 {source="MONDO:equivalentTo", source="Orphanet:90771", source="DOID:1923", source="Orphanet:90771/e"}
xref: NANDO:2100140 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C103186 {source="MONDO:equivalentTo"}
xref: Orphanet:90771 {source="MONDO:equivalentTo"}
xref: SCTID:39179006 {source="MONDO:equivalentTo"}
xref: UMLS:C2930619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:415936"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:90771"} ! disease
is_a: MONDO:0002259 {source="DOID:1923", source="MESH:D012734"} ! gonadal disorder
is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:90771"} ! endocrine system disorder
is_a: MONDO:0019755 {source="Orphanet:90771"} ! developmental defect during embryogenesis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0007548 ! sex differentiation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4091" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4949" xsd:anyURI

[Term]
id: MONDO:0002146
name: hypogonadism
def: "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "gonadotropin deficiency" EXACT [NCIT:C9227]
synonym: "hypogonadotropism" EXACT [NCIT:C9227]
xref: DOID:1924 {source="MONDO:equivalentTo"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007006 {source="MONDO:equivalentTo", source="DOID:1924"}
xref: NCIT:C9227 {source="MONDO:equivalentTo", source="DOID:1924"}
xref: SCTID:48130008 {source="MONDO:equivalentTo", source="DOID:1924"}
xref: UMLS:C0020619 {source="MEDGEN:5711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002259 {source="DOID:1924", source="MESH:D007006", source="NCIT:C9227/inferred"} ! gonadal disorder

[Term]
id: MONDO:0002147
name: obsolete Coffin-Siris syndrome
is_obsolete: true
replaced_by: MONDO:0015452

[Term]
id: MONDO:0002148
name: obsolete sphingolipidosis
is_obsolete: true
replaced_by: MONDO:0019255

[Term]
id: MONDO:0002149
name: reproductive system cancer
def: "A malignant neoplasm involving the reproductive organ" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "cancer of reproductive system" EXACT [DOID:193, MONDO:patterns/cancer]
synonym: "malignant neoplasm of reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of reproductive system" EXACT [MONDO:patterns/cancer]
synonym: "malignant reproductive organ neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant reproductive system neoplasm" EXACT [DOID:193, MONDO:patterns/cancer, NCIT:C36076]
synonym: "reproductive organ cancer" EXACT [MONDO:patterns/location]
synonym: "reproductive system cancer" EXACT []
synonym: "reproductive tumor" BROAD [DOID:193, NCIT:C3674]
synonym: "reproductive tumour" BROAD OMO:0003005 []
xref: DOID:193 {source="MONDO:equivalentTo"}
xref: MEDGEN:233668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36076 {source="MONDO:equivalentTo"}
xref: NCIT:C3674 {source="DOID:193"}
xref: UMLS:C1334618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233668"}
is_a: MONDO:0004992 {source="DOID:193", source="DOID:193/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0005039 {source="DOID:193", source="MONDO:Redundant", source="NCIT:C36076/inferred"} ! reproductive system disorder
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C36076"} ! reproductive system neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000990 ! reproductive system

[Term]
id: MONDO:0002150
name: hypothalamic disorder
def: "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." [MESH:D007027]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of hypothalamus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of hypothalamus" EXACT []
synonym: "disorder of hypothalamus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "hypothalamus disease" EXACT [MONDO:design_pattern]
synonym: "hypothalamus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1931 {source="MONDO:equivalentTo"}
xref: ICD9:253.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007027 {source="MONDO:equivalentTo", source="DOID:1931"}
xref: SCTID:190463005 {source="DOID:1931"}
xref: SCTID:399100005 {source="MONDO:equivalentTo", source="DOID:1931"}
xref: SCTID:88108008 {source="DOID:1931"}
xref: UMLS:C0020655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6988"}
is_a: MONDO:0003081 {source="DOID:1931", source="MONDO:Entailed"} ! thalamic disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001898 ! hypothalamus

[Term]
id: MONDO:0002151
name: obsolete dysostosis
is_obsolete: true
replaced_by: MONDO:0018234

[Term]
id: MONDO:0002152
name: intermittent squint
synonym: "intermittent heterotropia" EXACT [DOID:1942, ICD9CM:378.2]
xref: DOID:1942 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.3 {source="DOID:1942"}
xref: ICD10CM:H50.30 {source="DOID:1942"}
xref: ICD9:378.2 {source="DOID:1942"}
xref: ICD9:378.20 {source="DOID:1942"}
xref: MEDGEN:508928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194105004 {source="DOID:1942"}
xref: SCTID:246734002 {source="DOID:1942"}
xref: SCTID:74025007 {source="MONDO:equivalentTo", source="DOID:1942"}
xref: UMLS:C0152210 {source="MEDGEN:508928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003432 {source="DOID:1942"} ! strabismus

[Term]
id: MONDO:0002153
name: telogen effluvium
def: "A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:1943 {source="MONDO:equivalentTo"}
xref: ICD10CM:L65.0 {source="MONDO:equivalentTo", source="DOID:1943"}
xref: ICD9:704.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1943"}
xref: MEDGEN:537938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C112200 {source="MONDO:equivalentTo", source="DOID:1943"}
xref: SCTID:201147004 {source="DOID:1943"}
xref: SCTID:39479004 {source="MONDO:equivalentTo", source="DOID:1943"}
xref: UMLS:C0263518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:537938"}
is_a: MONDO:0004907 {source="DOID:1943", source="NCIT:C112200"} ! alopecia

[Term]
id: MONDO:0002154
name: trichomoniasis
def: "An infection that is caused by Trichomonas." [NCIT:P378]
synonym: "infections, Trichomonas" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Trichomonas infection" EXACT [DOID:1947, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:1947 {source="MONDO:equivalentTo"}
xref: ICD10CM:A59 {source="MONDO:equivalentTo", source="DOID:1947"}
xref: ICD10CM:A59.9 {source="DOID:1947"}
xref: ICD9:131 {source="DOID:1947"}
xref: ICD9:131.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:131.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1947"}
xref: MEDGEN:52838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014245 {source="MONDO:equivalentTo", source="DOID:1947"}
xref: NCIT:C35720 {source="MONDO:equivalentTo", source="DOID:1947"}
xref: SCTID:105648001 {source="DOID:1947"}
xref: SCTID:187206001 {source="DOID:1947"}
xref: SCTID:187364002 {source="DOID:1947"}
xref: SCTID:56335008 {source="MONDO:equivalentTo", source="DOID:1947"}
xref: UMLS:C0040921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52838"}
is_a: MONDO:0002428 {source="DOID:1947", source="MESH:D014245", source="NCIT:C35720"} ! protozoa infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5721 ! Trichomonas

[Term]
id: MONDO:0002155
name: cholecystitis
def: "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." [NCIT:P378]
synonym: "acalculous cholecystitis" RELATED [GARD:0000030]
synonym: "acute and chronic cholecystitis" EXACT [DOID:1949, ICD9CM:575.12]
synonym: "acute cholecystitis" NARROW [DOID:1949, ICD9CM:575.0, NCIT:C35152]
synonym: "acute on chronic cholecystitis" NARROW [DOID:1949]
synonym: "chronic cholecystitis" NARROW [DOID:1949, ICD9CM:575.11]
synonym: "gall bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "gallstone cholecystitis" RELATED [GARD:0000030]
synonym: "inflammation of gall bladder" EXACT []
xref: DOID:1949 {source="MONDO:equivalentTo"}
xref: ICD10CM:K81 {source="DOID:1949"}
xref: ICD10CM:K81.9 {source="DOID:1949"}
xref: ICD9:575.10 {source="DOID:1949"}
xref: ICD9:575.11 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002764 {source="DOID:1949", source="MONDO:equivalentTo"}
xref: NCIT:C34465 {source="DOID:1949", source="MONDO:equivalentTo"}
xref: SCTID:197414008 {source="DOID:1949"}
xref: SCTID:20824003 {source="MONDO:equivalentTo"}
xref: SCTID:76581006 {source="DOID:1949"}
xref: UMLS:C0008325 {source="MEDGEN:920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004789 {source="DOID:1949"} ! cholangitis
is_a: MONDO:0005281 {source="MESH:D002764", source="MONDO:Redundant", source="NCIT:C34465/inferred"} ! gallbladder disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0002156
name: fallopian tube disorder
def: "A disease involving the fallopian tube." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of fallopian tube" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of fallopian tube" EXACT []
synonym: "disorder of fallopian tube" EXACT [MONDO:patterns/location_top]
synonym: "fallopian tube disease" EXACT [MONDO:patterns/location, NCIT:C26771]
synonym: "fallopian tube disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "fallopian tube disorder" EXACT [NCIT:C26771]
xref: DOID:1962 {source="MONDO:equivalentTo"}
xref: EFO:0009548 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:8774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005184 {source="DOID:1962", source="MONDO:equivalentTo"}
xref: NCIT:C26771 {source="DOID:1962", source="MONDO:equivalentTo"}
xref: SCTID:128134005 {source="DOID:1962", source="MONDO:equivalentTo"}
xref: UMLS:C0015556 {source="MEDGEN:8774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:1962", source="MESH:D005184/inferred", source="MONDO:Redundant", source="NCIT:C26771"} ! female reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0002157
name: obsolete fallopian tube carcinoma
is_obsolete: true
replaced_by: MONDO:0006206

[Term]
id: MONDO:0002158
name: fallopian tube cancer
def: "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma." [NCIT:C7480]
subset: gard_rare {source="GARD:20204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180242"}
subset: orphanet_rare {source="Orphanet:180242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of fallopian tube" EXACT [MONDO:patterns/cancer]
synonym: "cancer of fallopian tubes" EXACT [Orphanet:180242]
synonym: "fallopian tube cancer" EXACT [MONDO:patterns/location]
synonym: "fallopian tube malignant neoplasm" EXACT [NCIT:C7480]
synonym: "fallopian tube malignant tumor" EXACT [NCIT:C7480]
synonym: "fallopian tube malignant tumour" EXACT OMO:0003005 []
synonym: "fallopian tube neoplasm" RELATED EXCLUDE [DOID:1964]
synonym: "malignant fallopian tube neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7480]
synonym: "malignant fallopian tube tumor" EXACT [NCIT:C7480]
synonym: "malignant fallopian tube tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of fallopian tube" EXACT [MONDO:patterns/cancer, NCIT:C7480]
synonym: "malignant neoplasm of the fallopian tube" EXACT [NCIT:C7480]
synonym: "malignant neoplasm of uterine tube" EXACT [DOID:1964]
synonym: "malignant tubal tumor" EXACT [Orphanet:180242]
synonym: "malignant tubal tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of fallopian tube" EXACT [DOID:1964, NCIT:C7480]
synonym: "malignant tumor of fallopian tubes" EXACT [MONDO:0015866]
synonym: "malignant tumor of the fallopian tube" EXACT [NCIT:C7480]
synonym: "malignant tumour of fallopian tube" EXACT OMO:0003005 []
synonym: "malignant tumour of fallopian tubes" EXACT OMO:0003005 []
synonym: "malignant tumour of the fallopian tube" EXACT OMO:0003005 []
synonym: "neoplasm of fallopian tube" BROAD EXCLUDE [DOID:1964]
synonym: "neoplasm, fallopian tube, malignant" EXACT [NCIT:C7480]
synonym: "tubal cancer" EXACT [Orphanet:180242]
synonym: "tumor of the fallopian tube" BROAD [DOID:1964, NCIT:C3032]
synonym: "tumor, fallopian tube, malignant" EXACT [DOID:1964, NCIT:C7480]
synonym: "tumour of the fallopian tube" BROAD OMO:0003005 []
xref: DOID:1964 {source="MONDO:equivalentTo"}
xref: GARD:20204 {source="MONDO:GARD"}
xref: ICD10CM:C57.0 {source="DOID:1964", source="Orphanet:180242", source="Orphanet:180242/e"}
xref: icd11.foundation:459381514 {source="MONDO:equivalentTo", source="Orphanet:180242", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:183.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1964"}
xref: MedDRA:10025915 {source="Orphanet:180242", source="Orphanet:180242/e"}
xref: MEDGEN:102276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005185 {source="DOID:1964"}
xref: NCIT:C3032 {source="DOID:1964"}
xref: NCIT:C7480 {source="MONDO:equivalentTo", source="DOID:1964"}
xref: Orphanet:180242 {source="MONDO:equivalentTo"}
xref: SCTID:126916003 {source="DOID:1964"}
xref: SCTID:363444001 {source="MONDO:equivalentTo", source="DOID:1964"}
xref: SCTID:93794008 {source="DOID:1964"}
xref: UMLS:C0153579 {source="MEDGEN:102276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001416 {source="DOID:1964", source="MONDO:Redundant", source="NCIT:C7480"} ! female reproductive organ cancer
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C7480"} ! fallopian tube neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0002159
name: fallopian tube leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C40128]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C40128]
synonym: "leiomyosarcoma of fallopian tube" EXACT [MONDO:design_pattern]
xref: DOID:1965 {source="MONDO:equivalentTo"}
xref: MEDGEN:274488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40128 {source="MONDO:equivalentTo", source="DOID:1965", source="MONDO:exact-label-match"}
xref: UMLS:C1517116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274488"}
is_a: MONDO:0002158 {source="DOID:1965", source="MONDO:Redundant", source="NCIT:C40128"} ! fallopian tube cancer
is_a: MONDO:0005058 {source="DOID:1965", source="MONDO:Redundant", source="NCIT:C40128/inferred"} ! leiomyosarcoma
is_a: MONDO:0018078 {source="MONDO:Redundant", source="NCIT:C40128"} ! soft tissue sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0002160
name: obsolete cerebral palsy
is_obsolete: true
replaced_by: MONDO:0006497

[Term]
id: MONDO:0002161
name: obsolete fallopian tube carcinosarcoma
is_obsolete: true
replaced_by: MONDO:0006207

[Term]
id: MONDO:0002162
name: fallopian tube adenosarcoma
def: "An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component." [NCIT:C40125]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosarcoma of fallopian tube" EXACT [MONDO:design_pattern]
synonym: "fallopian tube adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C40125]
synonym: "fallopian tube Mullerian adenosarcoma" EXACT [NCIT:C40125]
synonym: "fallopian tube mullerian adenosarcoma" EXACT [DOID:1973]
synonym: "fallopian tube Müllerian adenosarcoma" EXACT [NCIT:C40125]
xref: DOID:1973 {source="MONDO:equivalentTo"}
xref: MEDGEN:275872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40125 {source="DOID:1973", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1517121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275872"}
is_a: MONDO:0005636 {source="DOID:1973", source="MONDO:Redundant", source="NCIT:C40125"} ! adenosarcoma
intersection_of: MONDO:0005636 ! adenosarcoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube
relationship: excluded_subClassOf MONDO:0006207 {source="DOID:1973", source="https://orcid.org/0000-0001-5208-3432"} ! fallopian tube carcinosarcoma

[Term]
id: MONDO:0002163
name: thymus lipoma
def: "A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lipoma of thymus" EXACT [MONDO:design_pattern]
synonym: "Thymolipoma" EXACT [DOID:1975, NCIT:C6452]
synonym: "Thymolipomatous hamartoma" EXACT [NCIT:C6452]
synonym: "thymus lipoma" EXACT [MONDO:patterns/location]
xref: DOID:1975 {source="MONDO:equivalentTo"}
xref: MEDGEN:234427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6452 {source="MONDO:equivalentTo", source="DOID:1975"}
xref: SCTID:447137005 {source="DOID:1975"}
xref: UMLS:C1336744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234427"}
is_a: MONDO:0000630 {source="DOID:1975", source="MONDO:Redundant", source="MONDO:indirect"} ! immune system organ benign neoplasm
is_a: MONDO:0005106 {source="DOID:1975", source="MONDO:Redundant"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0002164
name: focal chorioretinitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:1979 {source="MONDO:equivalentTo"}
xref: ICD10CM:H30.0 {source="DOID:1979"}
xref: ICD10CM:H30.00 {source="DOID:1979"}
xref: ICD9:363.0 {source="DOID:1979"}
xref: ICD9:363.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1979"}
xref: MEDGEN:509691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:15847003 {source="MONDO:equivalentTo", source="DOID:1979"}
xref: SCTID:193433002 {source="DOID:1979"}
xref: SCTID:193439003 {source="DOID:1979"}
xref: SCTID:359668007 {source="DOID:1979"}
xref: SCTID:458003 {source="DOID:1979"}
xref: UMLS:C0154870 {source="MEDGEN:509691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004674 {source="DOID:1979"} ! chorioretinitis

[Term]
id: MONDO:0002165
name: rectal neoplasm
def: "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C3350]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350]
synonym: "neoplasm of the rectum" EXACT [NCIT:C3350]
synonym: "rectal neoplasm" EXACT [NCIT:C3350]
synonym: "rectal tumor" EXACT [DOID:1984, NCIT:C3350]
synonym: "rectal tumour" EXACT OMO:0003005 []
synonym: "rectum neoplasm" EXACT [DOID:1984]
synonym: "rectum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "rectum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "rectum tumour" EXACT OMO:0003005 []
synonym: "tumor of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350]
synonym: "tumor of the rectum" EXACT [NCIT:C3350]
synonym: "tumour of rectum" EXACT OMO:0003005 []
synonym: "tumour of the rectum" EXACT OMO:0003005 []
xref: DOID:1984 {source="MONDO:equivalentTo"}
xref: MEDGEN:11148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012004 {source="DOID:1984", source="MONDO:equivalentTo"}
xref: NCIT:C3350 {source="DOID:1984", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126847008 {source="DOID:1984", source="MONDO:equivalentTo"}
xref: UMLS:C0034885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11148"}
is_a: MONDO:0001593 {source="MESH:D012004/inferred", source="MONDO:Redundant"} ! rectal disorder
is_a: MONDO:0005335 {source="MESH:D012004", source="NCIT:C3350"} ! colorectal neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0002166
name: rectum lymphoma
def: "An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C5553]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoma of rectum" EXACT [DOID:1988, NCIT:C5553]
synonym: "lymphoma of the rectum" EXACT [NCIT:C5553]
synonym: "primary rectal lymphoma" EXACT [NCIT:C5553]
synonym: "rectal lymphoma" EXACT [NCIT:C5553]
synonym: "rectum lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:1988 {source="MONDO:equivalentTo"}
xref: MEDGEN:233393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5553 {source="MONDO:equivalentTo", source="DOID:1988"}
xref: UMLS:C1335685 {source="MEDGEN:233393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="DOID:1988", source="MONDO:Redundant", source="NCIT:C5553/inferred"} ! lymphoma
is_a: MONDO:0006519 {source="DOID:1988", source="MONDO:Redundant", source="NCIT:C5553"} ! rectal cancer
is_a: MONDO:0024656 {source="MONDO:Redundant", source="NCIT:C5553"} ! colorectal lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0002167
name: rectum malignant melanoma
def: "An aggressive malignant melanocytic neoplasm that arises from the rectum." [NCIT:C4640]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant melanoma of rectum" EXACT [NCIT:C4640]
synonym: "malignant melanoma of the rectum" EXACT [NCIT:C4640]
synonym: "melanoma (disease) of rectum" EXACT []
synonym: "melanoma of rectum" EXACT [DOID:1992, NCIT:C4640]
synonym: "melanoma of the rectum" EXACT [NCIT:C4640]
synonym: "rectal malignant melanoma" EXACT [NCIT:C4640]
synonym: "rectal melanoma" EXACT [NCIT:C4640]
synonym: "rectum melanoma" EXACT []
synonym: "rectum melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:1992 {source="MONDO:equivalentTo"}
xref: MEDGEN:87605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4640 {source="DOID:1992", source="MONDO:equivalentTo"}
xref: SCTID:276822007 {source="DOID:1992", source="MONDO:equivalentTo"}
xref: UMLS:C0349539 {source="MEDGEN:87605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="DOID:1992", source="MONDO:Entailed", source="NCIT:C4640/inferred"} ! melanoma
is_a: MONDO:0006519 {source="DOID:1992", source="NCIT:C4640"} ! rectal cancer
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0002168
name: rectum sarcoma
def: "A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." [NCIT:P378]
synonym: "rectal sarcoma" EXACT [NCIT:C5548]
synonym: "rectum sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of rectum" EXACT [DOID:1995, MONDO:patterns/sarcoma, NCIT:C5548]
synonym: "sarcoma of the rectum" EXACT [NCIT:C5548]
xref: DOID:1995 {source="MONDO:equivalentTo"}
xref: MEDGEN:277577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5548 {source="DOID:1995", source="MONDO:equivalentTo"}
xref: UMLS:C1335688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277577"}
is_a: MONDO:0005089 {source="DOID:1995", source="MONDO:Redundant", source="NCIT:C5548/inferred"} ! sarcoma
is_a: MONDO:0006519 {source="DOID:1995", source="MONDO:Redundant", source="NCIT:C5548"} ! rectal cancer
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0002169
name: rectum adenocarcinoma
def: "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [NCIT:C9383]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma - rectum" EXACT [NCIT:C9383]
synonym: "adenocarcinoma of rectum" EXACT [DOID:1996, NCIT:C9383]
synonym: "adenocarcinoma of the rectum" EXACT [NCIT:C9383]
synonym: "read" RELATED [ONCOTREE:READ]
synonym: "rectal adenocarcinoma" EXACT [DOID:1996, MONDO:0005540, NCIT:C9383]
synonym: "rectum adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:1996 {source="MONDO:equivalentTo"}
xref: EFO:0005631 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:56214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9383 {source="EFO:0005631", source="MONDO:equivalentTo", source="DOID:1996"}
xref: ONCOTREE:READ {source="MONDO:equivalentTo"}
xref: SCTID:254582000 {source="EFO:0005631", source="MONDO:equivalentTo", source="DOID:1996"}
xref: UMLS:C0149978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56214"}
is_a: MONDO:0005008 {source="DOID:1996", source="MONDO:Redundant", source="NCIT:C9383", source="ONCOTREE:READ"} ! colorectal adenocarcinoma
is_a: MONDO:0006519 {source="DOID:1996", source="MONDO:Entailed", source="NCIT:C9383/inferred"} ! rectal cancer
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum
relationship: disease_has_location UBERON:0001052 {source="EFO:0000784"} ! rectum

[Term]
id: MONDO:0002170
name: chronic eustachian salpingitis
def: "Chronic form of otosalpingitis." [MONDO:patterns/chronic]
synonym: "chronic eustachian tube salpingitis" EXACT [DOID:1999]
synonym: "chronic otosalpingitis" EXACT [MONDO:design_pattern]
synonym: "otosalpingitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:1999 {source="MONDO:equivalentTo"}
xref: ICD10CM:H68.02 {source="DOID:1999"}
xref: ICD10CM:H68.029 {source="DOID:1999"}
xref: ICD9:381.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1999"}
xref: MEDGEN:509962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:16397004 {source="DOID:1999"}
xref: SCTID:194269002 {source="MONDO:equivalentTo", source="DOID:1999"}
xref: UMLS:C0155430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509962"}
is_a: MONDO:0002172 {source="DOID:1999", source="MONDO:Redundant"} ! otosalpingitis
intersection_of: MONDO:0002172 ! otosalpingitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0002171
name: giant cell tumor
def: "A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells." [NCIT:C3055]
comment: editor note: consider separate term for neoplasm (C3055 in NCIT)
subset: otar {source="MONDO:OTAR"}
synonym: "giant cell neoplasm" EXACT [DOID:200, NCIT:C7069]
synonym: "giant cell tumor" EXACT [NCIT:C3055]
synonym: "giant cell tumor (morphologic abnormality)" EXACT [DOID:200]
synonym: "giant cell tumor (qualifier value)" EXACT [DOID:200]
synonym: "giant cell tumor NOS (morphologic abnormality)" EXACT [DOID:200]
synonym: "giant cell tumors" RELATED [DOID:200]
synonym: "giant cell tumors (morphologic abnormality)" EXACT [DOID:200]
synonym: "giant cell tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "giant cell tumour (qualifier value)" EXACT OMO:0003005 []
synonym: "giant cell tumour NOS (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "giant cell tumours" RELATED OMO:0003005 []
synonym: "giant cell tumours (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "tumor of the giant cell" EXACT [DOID:200, NCIT:C3055]
synonym: "tumour of the giant cell" EXACT OMO:0003005 []
xref: DOID:200 {source="MONDO:equivalentTo"}
xref: MEDGEN:6598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005870 {source="MONDO:equivalentTo", source="DOID:200"}
xref: NCIT:C3055 {source="MONDO:equivalentTo", source="DOID:200"}
xref: NCIT:C7069 {source="DOID:200"}
xref: SCTID:115238001 {source="DOID:200"}
xref: SCTID:134300001 {source="DOID:200"}
xref: SCTID:189890001 {source="DOID:200"}
xref: SCTID:189893004 {source="DOID:200"}
xref: SCTID:443790001 {source="MONDO:equivalentTo", source="DOID:200"}
xref: UMLS:C0017525 {source="MEDGEN:6598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="DOID:200/inferred", source="MESH:D005870/inferred", source="NCIT:C3055/inferred"} ! neoplasm

[Term]
id: MONDO:0002172
name: otosalpingitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Eustachian salpingitis" EXACT [DOID:2000, ICD9CM:381.5]
synonym: "Eustachian tube salpingitis" EXACT [DOID:2000]
synonym: "inflammation of pharyngotympanic tube" EXACT []
synonym: "pharyngotympanic tube inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2000 {source="MONDO:equivalentTo"}
xref: ICD10CM:H68.0 {source="DOID:2000", source="MONDO:equivalentTo"}
xref: ICD10CM:H68.00 {source="DOID:2000"}
xref: ICD10CM:H68.009 {source="DOID:2000"}
xref: ICD9:381.5 {source="DOID:2000"}
xref: ICD9:381.50 {source="DOID:2000", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194266009 {source="DOID:2000"}
xref: SCTID:194267000 {source="DOID:2000"}
xref: SCTID:194270001 {source="DOID:2000"}
xref: SCTID:270491006 {source="DOID:2000", source="MONDO:equivalentTo"}
xref: SCTID:35349000 {source="DOID:2000"}
xref: UMLS:C0155428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509960"}
is_a: MONDO:0004866 {source="DOID:2000", source="MONDO:Redundant"} ! eustachian tube disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002393 ! pharyngotympanic tube

[Term]
id: MONDO:0002173
name: neuroma
def: "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers." [NCIT:C3275]
comment: Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split
subset: otar {source="MONDO:OTAR"}
xref: DOID:2001 {source="MONDO:equivalentTo"}
xref: EFO:0009619 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9570/0 {source="NCIT:C3275"}
xref: MEDGEN:14352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009463 {source="DOID:2001", source="MONDO:equivalentTo"}
xref: NCIT:C3275 {source="DOID:2001", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:154622009 {source="DOID:2001"}
xref: SCTID:189950003 {source="DOID:2001"}
xref: SCTID:25169009 {source="DOID:2001"}
xref: SCTID:274089002 {source="DOID:2001"}
xref: SCTID:443892003 {source="DOID:2001", source="MONDO:equivalentTo"}
xref: UMLS:C0027858 {source="MONDO:equivalentTo", source="MEDGEN:14352", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="DOID:2001/inferred", source="NCIT:C3275/inferred"} ! disease
relationship: disease_has_location UBERON:0001021 ! nerve
relationship: excluded_subClassOf MONDO:0000648 {source="DOID:2001", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system benign neoplasm
relationship: excluded_subClassOf MONDO:0002547 {source="MESH:D009463", source="https://orcid.org/0000-0001-5208-3432"} ! nerve sheath neoplasm

[Term]
id: MONDO:0002174
name: preretinal fibrosis
def: "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)" [MESH:D019773]
synonym: "cellophane maculopathy" EXACT [DOID:2006]
synonym: "macular puckering of retina" EXACT [DOID:2006, ICD9CM:362.56]
synonym: "macular retinal puckering" EXACT [DOID:2006]
xref: DOID:2006 {source="MONDO:equivalentTo"}
xref: ICD9:362.56 {source="DOID:2006", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:362.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019773 {source="DOID:2006", source="MONDO:equivalentTo"}
xref: SCTID:133853005 {source="DOID:2006"}
xref: SCTID:193391002 {source="DOID:2006"}
xref: SCTID:367649002 {source="DOID:2006", source="MONDO:equivalentTo"}
xref: SCTID:53428005 {source="DOID:2006"}
xref: SCTID:55991001 {source="DOID:2006"}
xref: UMLS:C0339543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87388"}
is_a: MONDO:0002175 {source="DOID:2006"} ! degeneration of macula and posterior pole

[Term]
id: MONDO:0002175
name: degeneration of macula and posterior pole
subset: otar {source="MONDO:OTAR"}
synonym: "degeneration of macula and posterior pole of retina" EXACT [DOID:2007, ICD9CM:362.5]
synonym: "degeneration of macula or posterior pole" EXACT [DOID:2007]
xref: DOID:2007 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.3 {source="MONDO:equivalentTo", source="DOID:2007"}
xref: ICD9:362.5 {source="DOID:2007"}
xref: MEDGEN:573150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193384000 {source="DOID:2007"}
xref: SCTID:193392009 {source="DOID:2007"}
xref: SCTID:267611002 {source="MONDO:equivalentTo", source="DOID:2007"}
xref: UMLS:C0339436 {source="MEDGEN:573150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003004 {source="DOID:2007"} ! macular degeneration

[Term]
id: MONDO:0002176
name: obsolete connective tissue cancer
def: "OBSOLETE. A malignant neoplasm involving the connective tissue" [https://orcid.org/0000-0002-6601-2165]
comment: Reason: grouping class.
synonym: "cancer of connective tissue" EXACT [MONDO:patterns/cancer]
synonym: "connective tissue cancer" EXACT [MONDO:patterns/location]
synonym: "connective tissue neoplasm" BROAD [DOID:201]
synonym: "malignant connective tissue neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of connective tissue" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of connective tissues" BROAD [DOID:201]
synonym: "tumor of connective tissue" BROAD EXCLUDE [DOID:201]
xref: DOID:201 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D009372 {source="MONDO:directSiblingOf", source="DOID:201"}
xref: SCTID:126598008 {source="MONDO:directSiblingOf", source="DOID:201"}
xref: SCTID:254821003 {source="DOID:201"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3593" xsd:anyURI
is_obsolete: true
consider: MONDO:0003900

[Term]
id: MONDO:0002177
name: hyperinsulinism
def: "Abnormally high levels of insulin in the blood." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperinsulinemia" EXACT [DOID:2018]
synonym: "hyperinsulinism" EXACT [MONDO:ambiguous]
synonym: "hyperinsulinism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2018 {source="MONDO:equivalentTo"}
xref: HP:0000842 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E16.1 {source="DOID:2018"}
xref: ICD9:251.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:43779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006946 {source="MONDO:equivalentTo", source="DOID:2018"}
xref: NCIT:C113104 {source="MONDO:otherHierarchy", source="DOID:2018"}
xref: SCTID:124860004 {source="DOID:2018"}
xref: SCTID:131103005 {source="DOID:2018"}
xref: SCTID:154694003 {source="DOID:2018"}
xref: SCTID:267477002 {source="DOID:2018"}
xref: SCTID:83469008 {source="MONDO:equivalentTo", source="DOID:2018"}
xref: UMLS:C0020459 {source="MEDGEN:43779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001933 {source="DOID:2018"} ! endocrine pancreas disorder
is_a: MONDO:0002908 {source="DOID:2018", source="MESH:D006946", source="MONDO:Entailed", source="MONDO:Redundant"} ! glucose metabolism disease
intersection_of: MONDO:0002908 ! glucose metabolism disease
intersection_of: disease_has_feature HP:0000842 ! Hyperinsulinemia
property_value: IAO:0000589 "hyperinsulinism (disease)" xsd:string

[Term]
id: MONDO:0002178
name: placenta cancer
def: "A malignant neoplasm involving the placenta." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of placenta" EXACT [MONDO:patterns/cancer]
synonym: "deciduoma, malignant" EXACT [NCIT:C3555]
synonym: "malignant neoplasm of placenta" EXACT [DOID:2021, ICD9CM:181, MONDO:patterns/cancer]
synonym: "malignant neoplasm of the placenta" EXACT [NCIT:C3555]
synonym: "malignant placenta neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant placenta tumor" EXACT [NCIT:C3555]
synonym: "malignant placenta tumour" EXACT OMO:0003005 []
synonym: "malignant placental neoplasm" EXACT [NCIT:C3555]
synonym: "malignant placental tumor" EXACT [DOID:2021, NCIT:C3555]
synonym: "malignant placental tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of placenta" EXACT [NCIT:C3555]
synonym: "malignant tumor of the placenta" EXACT [NCIT:C3555]
synonym: "malignant tumour of placenta" EXACT OMO:0003005 []
synonym: "malignant tumour of the placenta" EXACT OMO:0003005 []
synonym: "neoplasm of placenta" RELATED EXCLUDE [DOID:2021]
synonym: "placenta cancer" EXACT [MONDO:patterns/location]
synonym: "placental cancer" EXACT [DOID:2021]
synonym: "placental tumors" BROAD [DOID:2021, NCIT:C4858]
synonym: "placental tumours" BROAD OMO:0003005 []
synonym: "primary malignant neoplasm of placenta" EXACT [DOID:2021]
xref: DOID:2021 {source="MONDO:equivalentTo"}
xref: ICD10CM:C58 {source="DOID:2021"}
xref: ICD9:181 {source="DOID:2021", source="MONDO:relatedTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3555 {source="DOID:2021", source="MONDO:equivalentTo"}
xref: SCTID:126920004 {source="MONDO:equivalentTo"}
xref: SCTID:188187004 {source="DOID:2021"}
xref: SCTID:449421003 {source="DOID:2021"}
xref: UMLS:C0153572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56310"}
is_a: MONDO:0005917 {source="DOID:2021", source="MONDO:Redundant", source="NCIT:C3555/inferred"} ! placenta disorder
is_a: MONDO:0021218 {source="MONDO:Redundant", source="NCIT:C3555"} ! placenta neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001987 ! placenta

[Term]
id: MONDO:0002179
name: obsolete placental choriocarcinoma
is_obsolete: true
replaced_by: MONDO:0006374

[Term]
id: MONDO:0002180
name: obsolete gestational choriocarcinoma
is_obsolete: true
replaced_by: MONDO:0020550

[Term]
id: MONDO:0002181
name: exostosis
def: "Non-neoplastic overgrowth of bone." [NCIT:C3029]
comment: Editor note: compare with osteophyte
subset: otar {source="MONDO:OTAR"}
synonym: "bone osteophyte" EXACT []
synonym: "bone spur" EXACT [DOID:203, NCIT:C3029]
synonym: "bony outgrowth" EXACT [DOID:203]
synonym: "exostosis" EXACT [NCIT:C3029]
synonym: "orbital exostosis" NARROW [DOID:203]
synonym: "osteophyte" EXACT [DOID:203]
synonym: "swimmer's exostosis" NARROW [DOID:203]
xref: DOID:203 {source="MONDO:equivalentTo"}
xref: ICD10CM:M27.8 {source="DOID:203"}
xref: ICD9:726.91 {source="DOID:203", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:257035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005096 {source="DOID:203"}
xref: NCIT:C3029 {source="DOID:203", source="MONDO:equivalentTo"}
xref: SCTID:156665008 {source="DOID:203"}
xref: SCTID:202894007 {source="DOID:203"}
xref: SCTID:235231000119100 {source="MONDO:equivalentTo"}
xref: SCTID:267997004 {source="DOID:203"}
xref: SCTID:268091003 {source="DOID:203"}
xref: SCTID:416189003 {source="DOID:203", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:80400009 {source="DOID:203"}
xref: UMLS:C1442903 {source="MEDGEN:257035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002185 {source="DOID:203"} ! hyperostosis

[Term]
id: MONDO:0002182
name: communication disorder
def: "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "communicative disorders" EXACT [NCIT:C2958]
xref: DOID:2033 {source="MONDO:equivalentTo"}
xref: ICD10CM:F80.9 {source="DOID:2033"}
xref: ICD9:307.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003147 {source="DOID:2033", source="MONDO:equivalentTo"}
xref: NCIT:C2958 {source="DOID:2033", source="MONDO:equivalentTo"}
xref: SCTID:278919001 {source="DOID:2033", source="MONDO:equivalentTo"}
xref: SCTID:74825008 {source="DOID:2033"}
xref: UMLS:C0009460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3549"}
is_a: MONDO:0000592 {source="DOID:2033"} ! specific developmental disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts NBO:0000612 ! communication behavior
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3857/muscular-fibrosis-multifocal-obstructed-vessels" xsd:anyURI {source="GARD:0003857"}

[Term]
id: MONDO:0002183
name: enthesopathy
def: "A disorder involving the attachment of a tendon or ligament to a bone" [Wikipedia:Enthesopathy]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of enthesis" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of enthesis" EXACT []
synonym: "disorder of enthesis" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "enthesis disease" EXACT [MONDO:design_pattern]
synonym: "enthesis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:204 {source="MONDO:equivalentTo"}
xref: EFO:0009666 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M77.9 {source="DOID:204"}
xref: ICD9:726.9 {source="DOID:204"}
xref: ICD9:726.90 {source="DOID:204", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:66909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000070676 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: MESH:D012216 {source="DOID:204", source="MONDO:directSiblingOf"}
xref: SCTID:202890003 {source="DOID:204"}
xref: SCTID:23680005 {source="DOID:204", source="MONDO:equivalentTo"}
xref: SCTID:278525009 {source="DOID:204"}
xref: UMLS:C0242490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66909"}
is_a: MONDO:0002081 {source="DOID:204/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! musculoskeletal system disorder
is_a: MONDO:0003900 {source="DOID:204", source="MONDO:Entailed", source="MONDO:Redundant"} ! connective tissue disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0035845 ! enthesis

[Term]
id: MONDO:0002184
name: drug-induced hepatitis
def: "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." [MESH:D056487]
synonym: "drug-induced chronic hepatitis" EXACT [DOID:2044]
xref: DOID:2044 {source="MONDO:equivalentTo"}
xref: MEDGEN:226802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056487 {source="DOID:2044"}
xref: SCTID:235889003 {source="DOID:2044", source="MONDO:equivalentTo"}
xref: UMLS:C1262760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226802"}
is_a: MONDO:0002251 {source="DOID:2044", source="MONDO:Entailed", source="MONDO:Redundant"} ! hepatitis
intersection_of: MONDO:0002251 ! hepatitis
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0002185
name: hyperostosis
def: "Excessive thickening of bone." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bone hypertrophy" EXACT [DOID:205, NCIT:C34712]
synonym: "hypertrophy of bone" EXACT [DOID:205]
synonym: "hypertrophy of bone (morphologic abnormality)" EXACT [DOID:205]
xref: DOID:205 {source="MONDO:equivalentTo"}
xref: ICD10CM:M89.3 {source="DOID:205"}
xref: ICD10CM:M89.30 {source="DOID:205"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015576 {source="DOID:205", source="MONDO:equivalentTo"}
xref: NCIT:C34712 {source="DOID:205", source="MONDO:equivalentTo"}
xref: SCTID:13814009 {source="DOID:205"}
xref: SCTID:203514008 {source="DOID:205", source="MONDO:equivalentTo"}
xref: UMLS:C0020492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9366"}
is_a: MONDO:0000833 {source="DOID:205"} ! bone remodeling disease

[Term]
id: MONDO:0002186
name: acute maxillary sinusitis
def: "Acute form of maxillary sinusitis." [MONDO:patterns/acute]
synonym: "acute antritis" EXACT [DOID:2050]
synonym: "maxillary sinusitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:2050 {source="MONDO:equivalentTo"}
xref: ICD10CM:J01.0 {source="MONDO:equivalentTo", source="DOID:2050"}
xref: ICD10CM:J01.00 {source="DOID:2050"}
xref: ICD9:461.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2050"}
xref: MEDGEN:510086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155499007 {source="DOID:2050"}
xref: SCTID:18714001 {source="DOID:2050"}
xref: SCTID:68272006 {source="MONDO:equivalentTo", source="DOID:2050"}
xref: UMLS:C0155804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510086"}
is_a: MONDO:0005842 {source="DOID:2050", source="MONDO:Redundant"} ! maxillary sinusitis
intersection_of: MONDO:0005842 ! maxillary sinusitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0002187
name: vulvar disease
def: "A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of vulva" EXACT []
synonym: "vulval disorder" RELATED []
synonym: "vulvar disease" EXACT [NCIT:C27631]
synonym: "vulvar disorder" EXACT [NCIT:C27631]
xref: DOID:2059 {source="MONDO:equivalentTo"}
xref: MEDGEN:53055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014845 {source="DOID:2059", source="MONDO:equivalentTo"}
xref: NCIT:C27631 {source="DOID:2059", source="MONDO:equivalentTo"}
xref: SCTID:5089007 {source="DOID:2059", source="MONDO:equivalentTo"}
xref: UMLS:C0042994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:53055"}
is_a: MONDO:0002263 {source="DOID:2059", source="MESH:D014845", source="NCIT:C27631"} ! female reproductive system disorder

[Term]
id: MONDO:0002188
name: vulvar nodular hidradenoma
def: "A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm." [NCIT:C40312]
synonym: "mammalian vulva nodular hidradenoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nodular hidradenoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "vulvar nodular hidradenoma" EXACT [NCIT:C40312]
xref: DOID:2060 {source="MONDO:equivalentTo"}
xref: MEDGEN:276994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40312 {source="MONDO:equivalentTo", source="DOID:2060", source="MONDO:exact-label-match"}
xref: UMLS:C1520091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276994"}
is_a: MONDO:0000643 {source="DOID:2060", source="MONDO:Redundant", source="NCIT:C40312"} ! vulvar benign neoplasm
is_a: MONDO:0002189 {source="MONDO:Redundant", source="NCIT:C40312"} ! nodular hidradenoma
is_a: MONDO:0021489 {source="MONDO:Redundant", source="NCIT:C40312/inferred"} ! benign neoplasm of sweat gland
intersection_of: MONDO:0002189 ! nodular hidradenoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002189
name: nodular hidradenoma
def: "A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative." [NCIT:P378]
synonym: "eccrine nodular hidradenoma" RELATED [DOID:2061]
synonym: "nodular hidradenoma" EXACT [DOID:2061, MTH:NOCODE, NCIT:C7568]
synonym: "solid and cystic hidradenoma" EXACT [NCIT:C7568]
xref: DOID:2061 {source="MONDO:equivalentTo"}
xref: ICDO:8402/0 {source="NCIT:C7568"}
xref: MEDGEN:1374260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7568 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:253020008 {source="MONDO:equivalentTo"}
xref: UMLS:C4505470 {source="MONDO:equivalentTo", source="MEDGEN:1374260", source="MONDO:MEDGEN"}
is_a: MONDO:0002805 {source="DOID:2061", source="NCIT:C7568"} ! hidradenoma

[Term]
id: MONDO:0002190
name: vulvar syringoma
def: "A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis." [NCIT:C40311]
synonym: "mammalian vulva syringoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "syringoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "vulvar syringoma" EXACT [NCIT:C40311]
xref: DOID:2064 {source="MONDO:equivalentTo"}
xref: MEDGEN:311490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40311 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2064"}
xref: UMLS:C1520099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:311490"}
is_a: MONDO:0000643 {source="DOID:2064", source="MONDO:Redundant", source="NCIT:C40311"} ! vulvar benign neoplasm
is_a: MONDO:0002191 {source="MONDO:Redundant", source="NCIT:C40311"} ! syringoma
is_a: MONDO:0021489 {source="MONDO:Redundant", source="NCIT:C40311/inferred"} ! benign neoplasm of sweat gland
intersection_of: MONDO:0002191 ! syringoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002191
name: syringoma
def: "A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis." [NCIT:C3761]
subset: otar {source="MONDO:OTAR"}
synonym: "eccrine syringoma" EXACT [NCIT:C3761]
synonym: "syringoma" EXACT [NCIT:C3761]
xref: DOID:2065 {source="MONDO:equivalentTo"}
xref: ICDO:8407/0 {source="NCIT:C3761"}
xref: MEDGEN:60205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018252 {source="DOID:2065", source="MONDO:equivalentTo"}
xref: NCIT:C3761 {source="DOID:2065", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:134158007 {source="DOID:2065"}
xref: SCTID:189051001 {source="DOID:2065"}
xref: SCTID:302828001 {source="DOID:2065", source="MONDO:equivalentTo"}
xref: SCTID:71244007 {source="DOID:2065"}
xref: UMLS:C0206673 {source="MONDO:equivalentTo", source="MEDGEN:60205", source="MONDO:MEDGEN"}
is_a: MONDO:0002381 {source="DOID:2065", source="NCIT:C3761/inferred"} ! sweat gland neoplasm

[Term]
id: MONDO:0002192
name: vulvar angiokeratoma
def: "An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis." [NCIT:P378]
synonym: "angiokeratoma of Fordyce of mammalian vulva" RELATED []
synonym: "angiokeratoma of mammalian vulva" EXACT []
synonym: "mammalian vulva angiokeratoma" EXACT [MONDO:patterns/location]
synonym: "mammalian vulva angiokeratoma of Fordyce" EXACT [MONDO:patterns/location]
xref: DOID:2066 {source="MONDO:equivalentTo"}
xref: MEDGEN:266144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8596 {source="DOID:2066", source="MONDO:equivalentTo"}
xref: SCTID:402841001 {source="DOID:2066", source="MONDO:equivalentTo"}
xref: UMLS:C1274281 {source="MEDGEN:266144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000643 {source="DOID:2066", source="MONDO:Entailed", source="MONDO:Redundant"} ! vulvar benign neoplasm
is_a: MONDO:0003954 {source="DOID:2066", source="MONDO:Redundant"} ! angiokeratoma of Fordyce
intersection_of: MONDO:0003143 ! angiokeratoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002193
name: Bartholin gland benign neoplasm
def: "A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." [NCIT:P378]
synonym: "Bartholin gland neoplasm" BROAD [DOID:2068]
synonym: "major vestibular gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tumor of Bartholin's gland" BROAD [DOID:2068, NCIT:C6434]
synonym: "tumour of Bartholin's gland" BROAD OMO:0003005 []
xref: DOID:2068 {source="MONDO:equivalentTo"}
xref: MEDGEN:83868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6434 {source="DOID:2068", source="MONDO:relatedTo"}
xref: SCTID:189130001 {source="MONDO:equivalentTo"}
xref: UMLS:C0347500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83868"}
is_a: MONDO:0000626 {source="DOID:2068", source="MONDO:Entailed", source="MONDO:Redundant"} ! vestibular gland benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0002194
name: vestibular papilloma
def: "A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia." [NCIT:C6376]
synonym: "mammalian vulva squamous papilloma" EXACT [MONDO:patterns/location]
synonym: "vestibular papilloma" EXACT [NCIT:C6376]
synonym: "vulvar squamous papilloma" EXACT [NCIT:C6376]
xref: DOID:2071 {source="MONDO:equivalentTo"}
xref: MEDGEN:277874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6376 {source="MONDO:equivalentTo", source="DOID:2071"}
xref: UMLS:C1336982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277874"}
is_a: MONDO:0000643 {source="MONDO:Redundant", source="NCIT:C6376"} ! vulvar benign neoplasm
is_a: MONDO:0001825 {source="MONDO:Redundant", source="NCIT:C6376"} ! squamous papilloma
is_a: MONDO:0002195 {source="DOID:2071", source="NCIT:C6376"} ! vulvar squamous neoplasm
intersection_of: MONDO:0001825 ! squamous papilloma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002195
name: vulvar squamous neoplasm
def: "A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma." [NCIT:C40283]
subset: otar {source="MONDO:OTAR"}
synonym: "mammalian vulva squamous cell neoplasm" EXACT [MONDO:patterns/location]
synonym: "vulvar squamous neoplasm" EXACT [NCIT:C40283]
synonym: "vulvar squamous tumor" EXACT [NCIT:C40283]
synonym: "vulvar squamous tumour" EXACT OMO:0003005 []
xref: DOID:2072 {source="MONDO:equivalentTo"}
xref: MEDGEN:276998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40283 {source="MONDO:equivalentTo", source="DOID:2072"}
xref: UMLS:C1520097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276998"}
is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40283"} ! squamous cell neoplasm
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C40283"} ! vulvar neoplasm
intersection_of: MONDO:0002532 {source="NCIT:C40283"} ! squamous cell neoplasm
intersection_of: disease_has_location UBERON:0000997 {source="NCIT:C40283"} ! mammalian vulva
relationship: disease_arises_from_structure UBERON:0006914 {source="NCIT:C40283"} ! squamous epithelium

[Term]
id: MONDO:0002196
name: perinatal intestinal perforation
xref: DOID:2073 {source="MONDO:equivalentTo"}
xref: ICD10CM:P78.0 {source="MONDO:equivalentTo", source="DOID:2073"}
xref: ICD9:777.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2073"}
xref: MEDGEN:510691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:206526009 {source="DOID:2073"}
xref: SCTID:65390006 {source="MONDO:equivalentTo", source="DOID:2073"}
xref: UMLS:C0159006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510691"}
is_a: MONDO:0006807 {source="DOID:2073"} ! intestinal perforation

[Term]
id: MONDO:0002197
name: minor vestibular glands adenoma
def: "A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present." [NCIT:C40301]
synonym: "adenoma of minor vestibular glands" EXACT [DOID:2075, NCIT:C40301]
synonym: "minor vestibular gland adenoma" EXACT [MONDO:patterns/location]
xref: DOID:2075 {source="MONDO:equivalentTo"}
xref: MEDGEN:267644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40301 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2075"}
xref: UMLS:C1510791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267644"}
is_a: MONDO:0000626 {source="DOID:2075", source="MONDO:Entailed", source="MONDO:Redundant"} ! vestibular gland benign neoplasm
is_a: MONDO:0000643 {source="DOID:2075", source="MONDO:Redundant", source="NCIT:C40301"} ! vulvar benign neoplasm
is_a: MONDO:0002198 {source="DOID:2075", source="NCIT:C40301"} ! vulvar glandular neoplasm
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C40301"} ! adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000461 ! minor vestibular gland

[Term]
id: MONDO:0002198
name: vulvar glandular neoplasm
def: "A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma." [NCIT:C40292]
synonym: "mammalian vulva glandular cell neoplasm" EXACT [MONDO:patterns/location]
synonym: "vulvar glandular neoplasm" EXACT [NCIT:C40292]
synonym: "vulvar glandular tumor" EXACT [NCIT:C40292]
synonym: "vulvar glandular tumour" EXACT OMO:0003005 []
xref: DOID:2076 {source="MONDO:equivalentTo"}
xref: MEDGEN:276991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40292 {source="DOID:2076", source="MONDO:equivalentTo"}
xref: UMLS:C1520082 {source="MEDGEN:276991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C40292"} ! vulvar neoplasm
is_a: MONDO:0024276 {source="MONDO:Redundant", source="NCIT:C40292"} ! glandular cell neoplasm
intersection_of: MONDO:0024276 ! glandular cell neoplasm
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002199
name: benign mixed tumor of the vulva
def: "A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended." [NCIT:C40302]
synonym: "benign mixed tumor of the vulva" EXACT [NCIT:C40302]
synonym: "chondroid syringoma of the vulva" EXACT [NCIT:C40302]
xref: DOID:2078 {source="MONDO:equivalentTo"}
xref: MEDGEN:267714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40302 {source="DOID:2078", source="MONDO:equivalentTo"}
xref: UMLS:C1511091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267714"}
is_a: MONDO:0000643 {source="NCIT:C40302"} ! vulvar benign neoplasm

[Term]
id: MONDO:0002200
name: eccrine mixed tumor of skin
alt_id: MONDO:0006308
def: "A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "benign mixed tumor of skin" EXACT [NCIT:C4474]
synonym: "benign mixed tumor of skin (chondroid syringoma)" EXACT [NCIT:C4474]
synonym: "benign mixed tumor of the skin" EXACT [NCIT:C4474]
synonym: "benign mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474]
synonym: "benign mixed tumour of skin" EXACT OMO:0003005 []
synonym: "benign mixed tumour of skin (chondroid syringoma)" EXACT OMO:0003005 []
synonym: "benign mixed tumour of the skin" EXACT OMO:0003005 []
synonym: "benign mixed tumour of the skin (chondroid syringoma)" EXACT OMO:0003005 []
synonym: "chondroid syringoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/, NCIT:C4474]
synonym: "eccrine mixed tumor" EXACT [DOID:2079]
synonym: "eccrine mixed tumor (morphologic abnormality)" EXACT [DOID:2079]
synonym: "eccrine mixed tumour" EXACT OMO:0003005 []
synonym: "eccrine mixed tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "eccrine sweat gland mixed neoplasm" EXACT [MONDO:patterns/location]
synonym: "mixed eccrine neoplasm of the skin" EXACT [DOID:2079, NCIT:C4474]
synonym: "mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474]
synonym: "mixed tumour of the skin (chondroid syringoma)" EXACT OMO:0003005 []
xref: DOID:2079 {source="MONDO:equivalentTo"}
xref: EFO:1000385 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4474 {source="DOID:2079", source="EFO:1000385", source="MONDO:equivalentTo"}
xref: SCTID:254720009 {source="DOID:2079", source="MONDO:equivalentTo"}
xref: SCTID:400144002 {source="DOID:2079"}
xref: UMLS:C0346026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91074"}
is_a: MONDO:0002090 {source="DOID:2079", source="MONDO:Redundant"} ! eccrine sweat gland neoplasm
is_a: MONDO:0021043 {source="MONDO:Redundant", source="NCIT:C4474"} ! mixed neoplasm
intersection_of: MONDO:0021043 ! mixed neoplasm
intersection_of: disease_has_location UBERON:0000423 ! eccrine sweat gland

[Term]
id: MONDO:0002201
name: vulvar trichoepithelioma
def: "A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin." [NCIT:C40314]
synonym: "mammalian vulva trichoblastoma" EXACT [MONDO:patterns/location]
synonym: "trichoblastoma of mammalian vulva" EXACT []
synonym: "vulvar trichoblastoma" EXACT [NCIT:C40314]
synonym: "vulvar trichoepithelioma" EXACT [NCIT:C40314]
xref: DOID:2080 {source="MONDO:equivalentTo"}
xref: MEDGEN:274418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40314 {source="MONDO:equivalentTo", source="DOID:2080", source="MONDO:exact-label-match"}
xref: UMLS:C1520100 {source="MEDGEN:274418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000643 {source="DOID:2080", source="NCIT:C40314"} ! vulvar benign neoplasm
intersection_of: MONDO:0020593 ! trichoblastoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002202
name: outlet dysfunction constipation
xref: DOID:2088 {source="MONDO:equivalentObsolete"}
xref: ICD10CM:K59.02 {source="DOID:2088", source="MONDO:equivalentTo"}
xref: ICD9:564.02 {source="DOID:2088"}
xref: MEDGEN:1843499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0949134 {source="MEDGEN:1843499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002203 {source="DOID:2088", source="ICD10CM:K59.02"} ! constipation disorder

[Term]
id: MONDO:0002203
name: constipation disorder
def: "Irregular and infrequent or difficult evacuation of the bowels." [NCIT:C37930]
subset: otar {source="MONDO:OTAR"}
synonym: "colonic inertia" RELATED [MESH:D003248]
synonym: "constipation" EXACT [HP:0002019]
synonym: "Dyschezia" RELATED [MESH:D003248]
xref: DOID:2089 {source="MONDO:equivalentObsolete"}
xref: HP:0002019 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K59.0 {source="DOID:2089", source="MONDO:equivalentTo"}
xref: ICD10CM:K59.00 {source="DOID:2089"}
xref: ICD9:564.0 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:564.00 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003248 {source="DOID:2089", source="MONDO:equivalentTo"}
xref: NCIT:C37930 {source="DOID:2089", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: SCTID:139356000 {source="DOID:2089"}
xref: SCTID:139358004 {source="DOID:2089"}
xref: SCTID:139359007 {source="DOID:2089"}
xref: SCTID:14760008 {source="DOID:2089", source="MONDO:equivalentTo"}
xref: SCTID:162080004 {source="DOID:2089"}
xref: SCTID:162082007 {source="DOID:2089"}
xref: SCTID:162083002 {source="DOID:2089"}
xref: SCTID:197123003 {source="DOID:2089"}
xref: SCTID:363693003 {source="DOID:2089"}
xref: UMLS:C0009806 {source="MONDO:equivalentTo", source="MEDGEN:1101", source="MONDO:MEDGEN"}
is_a: MONDO:0004880 {source="DOID:2089"} ! bowel dysfunction
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_major_feature HP:0002019 ! Constipation

[Term]
id: MONDO:0002204
name: transient arthritis
def: "Arthritis that is not permanent." [https://orcid.org/0000-0002-6601-2165]
synonym: "transient arthropathy" BROAD [NCIT:C35761]
xref: DOID:2092 {source="MONDO:equivalentTo"}
xref: ICD10CM:M12.8 {source="DOID:2092"}
xref: ICD9:716.4 {source="DOID:2092"}
xref: ICD9:716.40 {source="DOID:2092"}
xref: MEDGEN:854445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35761 {source="DOID:2092"}
xref: SCTID:201987005 {source="DOID:2092"}
xref: SCTID:202019004 {source="DOID:2092"}
xref: SCTID:6011000119108 {source="MONDO:equivalentTo"}
xref: SCTID:66191007 {source="DOID:2092"}
xref: UMLS:C3887596 {source="MEDGEN:854445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001429 {source="MONDO:Redundant"} ! transient arthropathy
is_a: MONDO:0006816 {source="DOID:2092", source="MONDO:Redundant", source="NCIT:C35761"} ! arthropathy
intersection_of: MONDO:0005578 ! arthritic joint disease
intersection_of: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0002205
name: vulvar melanoma
def: "A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria." [NCIT:P378]
synonym: "malignant melanoma of vulva" EXACT [DOID:2093]
synonym: "mammalian vulva melanoma" EXACT []
synonym: "mammalian vulva melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "melanoma (disease) of mammalian vulva" EXACT []
synonym: "vulvar melanoma" EXACT [MONDO:ambiguous, NCIT:C40329]
synonym: "vulvar melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2093 {source="MONDO:equivalentTo"}
xref: HP:0030418 {source="MONDO:otherHierarchy"}
xref: MEDGEN:66040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40329 {source="MONDO:equivalentTo", source="DOID:2093"}
xref: SCTID:254896002 {source="MONDO:equivalentTo", source="DOID:2093"}
xref: UMLS:C0241989 {source="MEDGEN:66040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001528 {source="DOID:2093", source="NCIT:C40329"} ! vulva cancer
is_a: MONDO:0006320 {source="NCIT:C40329"} ! non-cutaneous melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva
property_value: IAO:0000589 "vulvar melanoma (disease)" xsd:string

[Term]
id: MONDO:0002206
name: sweat gland cancer
def: "A malignant neoplasm that affects the sweat glands." [NCIT:C4810]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of sweat gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sweat gland" EXACT [DOID:2095, MONDO:patterns/cancer, NCIT:C4810]
synonym: "malignant neoplasm of the sweat gland" EXACT [NCIT:C4810]
synonym: "malignant sweat gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4810]
synonym: "malignant tumor of sweat gland" EXACT [NCIT:C4810]
synonym: "malignant tumor of the sweat gland" EXACT [DOID:2095, NCIT:C4810]
synonym: "malignant tumour of sweat gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the sweat gland" EXACT OMO:0003005 []
synonym: "sweat gland cancer" EXACT [MONDO:patterns/location]
synonym: "sweat gland neoplasms, malignant" EXACT [NCIT:C4810]
xref: DOID:2095 {source="MONDO:equivalentTo"}
xref: ICD10CM:C44 {source="DOID:2095"}
xref: MEDGEN:231171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4810 {source="MONDO:equivalentTo", source="DOID:2095"}
xref: SCTID:188083002 {source="DOID:2095"}
xref: SCTID:255095005 {source="DOID:2095"}
xref: SCTID:32272007 {source="DOID:2095"}
xref: SCTID:359719004 {source="DOID:2095"}
xref: UMLS:C1321904 {source="MEDGEN:231171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002381 {source="MONDO:Redundant", source="NCIT:C4810"} ! sweat gland neoplasm
is_a: MONDO:0002898 {source="DOID:2095", source="MONDO:Redundant", source="NCIT:C4810/inferred"} ! skin cancer
is_a: MONDO:0006615 {source="DOID:2095", source="MONDO:Redundant", source="MONDO:indirect"} ! sweat gland disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001820 ! sweat gland

[Term]
id: MONDO:0002207
name: vulval Paget disease
def: "An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mammalian vulva Paget disease" EXACT [MONDO:patterns/location]
synonym: "Paget disease of the vulva" EXACT [NCIT:C4027]
synonym: "Paget's disease of the vulva" EXACT [NCIT:C4027]
synonym: "Paget's disease of vulva" EXACT [NCIT:C4027]
synonym: "vulva Paget's disease" EXACT [NCIT:C4027]
synonym: "vulval Paget disease" EXACT [DOID:2097]
synonym: "vulval Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "vulvar Paget's disease" EXACT [DOID:2097, NCIT:C4027]
xref: DOID:2097 {source="MONDO:equivalentTo"}
xref: ICD9:233.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4027 {source="MONDO:equivalentTo", source="DOID:2097"}
xref: SCTID:254898001 {source="MONDO:equivalentTo", source="DOID:2097"}
xref: SCTID:403948004 {source="DOID:2097"}
xref: UMLS:C1275217 {source="MEDGEN:266154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008177 {source="NCIT:C4027"} ! extramammary Paget disease
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C4027/inferred"} ! Paget disease
is_a: MONDO:0024336 {source="DOID:2097", source="MONDO:Redundant", source="NCIT:C4027/inferred"} ! vulvar adenocarcinoma
intersection_of: MONDO:0021165 ! Paget disease
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002208
name: obsolete vulva adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0024336

[Term]
id: MONDO:0002209
name: heel spur
def: "A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related." [MESH:D036982]
synonym: "calcaneal spur" RELATED [DOID:210, ICD9CM:726.73]
synonym: "calcaneus exostosis" EXACT [MONDO:patterns/location]
xref: DOID:210 {source="MONDO:equivalentTo"}
xref: ICD10CM:M77.3 {source="MONDO:equivalentTo", source="DOID:210"}
xref: ICD10CM:M77.30 {source="DOID:210"}
xref: ICD9:726.73 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:210"}
xref: MEDGEN:57853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D036982 {source="MONDO:equivalentTo", source="DOID:210"}
xref: SCTID:156663001 {source="DOID:210"}
xref: SCTID:268090002 {source="DOID:210"}
xref: SCTID:55260003 {source="MONDO:equivalentTo", source="DOID:210"}
xref: UMLS:C0158322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57853"}
is_a: MONDO:0002181 {source="DOID:210", source="MONDO:Redundant"} ! exostosis
intersection_of: MONDO:0002181 ! exostosis
intersection_of: disease_has_location UBERON:0001450 ! calcaneus

[Term]
id: MONDO:0002210
name: obsolete vulva squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0024609

[Term]
id: MONDO:0002211
name: B cell deficiency
def: "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient." [NCIT:C4799]
comment: See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B cell (antibody) deficiencies" EXACT [DOID:2115]
synonym: "B-cell deficiency" EXACT [NCIT:C4799]
synonym: "deficiency of humoral immunity" EXACT [NCIT:C4799]
synonym: "immunoglobulin heavy chain deficiency" RELATED [DOID:2115]
synonym: "immunoglobulin heavy chain deletion" RELATED [DOID:2115]
xref: DOID:2115 {source="MONDO:equivalentTo"}
xref: ICD9:279.03 {source="DOID:2115"}
xref: MEDGEN:340780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4799 {source="MONDO:equivalentTo", source="NCIT:C4799"}
xref: SCTID:190982008 {source="DOID:2115"}
xref: UMLS:C1855067 {source="MEDGEN:340780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DOID:2115"} ! inborn error of immunity
is_a: MONDO:0021094 {source="NCIT:C4799"} ! immunodeficiency disease
relationship: disease_has_location CL:0000236 ! B cell

[Term]
id: MONDO:0002212
name: pneumonic tularemia
def: "A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing." [DOID:2122, http://www.cdc.gov/tularemia/signssymptoms/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bronchopneumonic tularemia" EXACT [DOID:2122]
synonym: "pneumonic tularaemia" EXACT [DOID:2122]
synonym: "pulmonary tularemia" EXACT [DOID:2122, ICD9CM:021.2]
xref: DOID:2122 {source="MONDO:equivalentTo"}
xref: ICD10CM:A21.2 {source="DOID:2122"}
xref: ICD9:021.2 {source="DOID:2122", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:573437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186297007 {source="DOID:2122"}
xref: SCTID:45556008 {source="DOID:2122", source="MONDO:equivalentTo"}
xref: UMLS:C0339946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573437"}
is_a: MONDO:0018077 {source="DOID:2122"} ! tularemia

[Term]
id: MONDO:0002213
name: obsolete tularemia
is_obsolete: true
replaced_by: MONDO:0018077

[Term]
id: MONDO:0002214
name: brain germinoma
def: "A germinoma (disease) that involves the brain." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain germinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "germinoma of brain" EXACT [NCIT:C6284]
synonym: "germinoma of the brain" EXACT [DOID:2127, NCIT:C6284]
synonym: "intracranial germinoma" BROAD [DOID:2127]
xref: DOID:2127 {source="MONDO:equivalentTo"}
xref: MEDGEN:231457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6284 {source="DOID:2127", source="MONDO:equivalentTo"}
xref: UMLS:C1332606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231457"}
is_a: MONDO:0001657 {source="DOID:2127", source="MONDO:Redundant", source="NCIT:C6284"} ! brain cancer
is_a: MONDO:0002999 {source="DOID:2127", source="MONDO:Redundant", source="NCIT:C6284/inferred"} ! central nervous system germinoma
intersection_of: MONDO:0002598 ! germinoma
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0002215
name: obsolete atypical teratoid rhabdoid tumor
is_obsolete: true
replaced_by: MONDO:0020560

[Term]
id: MONDO:0002216
name: brain sarcoma
def: "A sarcoma arising from the brain." [NCIT:C5154]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain sarcoma" EXACT [MONDO:patterns/location, NCIT:C5154]
synonym: "primary brain sarcoma" EXACT [NCIT:C5154]
synonym: "sarcoma of brain" EXACT [MONDO:patterns/sarcoma, NCIT:C5154]
synonym: "sarcoma of the brain" EXACT [DOID:2132, NCIT:C5154]
xref: DOID:2132 {source="MONDO:equivalentTo"}
xref: MEDGEN:272381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5154 {source="DOID:2132", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332607 {source="MEDGEN:272381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001657 {source="DOID:2132", source="MONDO:Redundant", source="NCIT:C5154"} ! brain cancer
is_a: MONDO:0002217 {source="DOID:2132", source="MONDO:Redundant", source="NCIT:C5154"} ! central nervous system sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0002217
name: central nervous system sarcoma
def: "A sarcoma that arises from the central nervous system." [NCIT:C5153]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system sarcoma" EXACT [MONDO:patterns/location, NCIT:C5153]
synonym: "CNS sarcoma" EXACT [NCIT:C5153]
synonym: "sarcoma of central nervous system" EXACT [MONDO:patterns/sarcoma, NCIT:C5153]
synonym: "sarcoma of CNS" EXACT [NCIT:C5153]
synonym: "sarcoma of the central nervous system" EXACT [NCIT:C5153]
synonym: "sarcoma of the CNS" EXACT [DOID:2133, NCIT:C5153]
xref: DOID:2133 {source="MONDO:equivalentTo"}
xref: MEDGEN:272444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5153 {source="DOID:2133", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272444"}
is_a: MONDO:0002714 {source="DOID:2133", source="MONDO:Redundant", source="NCIT:C5153/inferred"} ! central nervous system cancer
is_a: MONDO:0005089 {source="DOID:2133", source="MONDO:Redundant", source="NCIT:C5153/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C5153"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0002218
name: temporal lobe cancer
def: "A cancer that involves the temporal lobe." [MONDO:patterns/location]
synonym: "cancer of temporal lobe" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of temporal lobe" EXACT [DOID:2135, MONDO:patterns/cancer]
synonym: "malignant temporal lobe neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of temporal lobe" RELATED EXCLUDE [DOID:2135]
synonym: "temporal lobe cancer" EXACT [MONDO:patterns/location]
synonym: "temporal lobe neoplasm" RELATED [DOID:2135]
synonym: "tumor of temporal lobe" RELATED EXCLUDE [DOID:2135]
synonym: "tumour of temporal lobe" RELATED OMO:0003005 []
xref: DOID:2135 {source="MONDO:equivalentTo", source="MONDO:placement-based-on-DOID-graph"}
xref: ICD10CM:C71.2 {source="DOID:2135", source="MONDO:equivalentTo"}
xref: ICD9:191.2 {source="DOID:2135", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5567 {source="DOID:2135"}
xref: SCTID:126955002 {source="DOID:2135"}
xref: SCTID:188291000 {source="DOID:2135"}
xref: SCTID:363468009 {source="DOID:2135", source="MONDO:equivalentTo"}
xref: SCTID:94086000 {source="DOID:2135"}
xref: UMLS:C0153636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509347"}
is_a: MONDO:0002731 {source="DOID:2135", source="MONDO:Redundant"} ! cerebral hemisphere cancer
is_a: MONDO:0021372 {source="MONDO:Redundant"} ! neoplasm of temporal lobe
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001871 ! temporal lobe

[Term]
id: MONDO:0002219
name: paraurethral gland neoplasm
def: "A neoplasm (disease) that involves the paraurethral gland." [MONDO:patterns/location]
synonym: "neoplasm of paraurethral gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of paraurethral glands" EXACT [DOID:2139]
synonym: "paraurethral gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "paraurethral gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "paraurethral gland tumour" EXACT OMO:0003005 []
synonym: "tumor of paraurethral gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the paraurethral gland" EXACT [DOID:2139, NCIT:C4378]
synonym: "tumour of paraurethral gland" EXACT OMO:0003005 []
synonym: "tumour of the paraurethral gland" EXACT OMO:0003005 []
xref: DOID:2139 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:574628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:126884005 {source="MONDO:equivalentTo", source="DOID:2139"}
xref: UMLS:C0341766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574628"}
is_a: MONDO:0021049 {source="MONDO:Redundant"} ! vulvar neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0010145 ! paraurethral gland

[Term]
id: MONDO:0002220
name: tooth hard tissue disease
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of hard tissues of teeth" EXACT []
synonym: "teeth hard tissue disease" RELATED [DOID:214]
synonym: "teeth hard tissue diseases" RELATED []
xref: DOID:214 {source="MONDO:equivalentTo"}
xref: ICD10CM:K03 {source="MONDO:equivalentTo"}
xref: ICD10CM:K03.8 {source="DOID:214"}
xref: ICD10CM:K03.89 {source="DOID:214"}
xref: ICD9:521.8 {source="DOID:214"}
xref: ICD9:521.89 {source="DOID:214"}
xref: MEDGEN:510140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197505001 {source="DOID:214"}
xref: SCTID:46557008 {source="MONDO:equivalentTo"}
xref: UMLS:C0155926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510140"}
is_a: MONDO:0006999 {source="DOID:214"} ! tooth disorder

[Term]
id: MONDO:0002221
name: urethral urothelial papilloma
def: "Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003" [NCIT:C5061]
synonym: "urethra urothelial papilloma" EXACT [MONDO:patterns/location]
synonym: "urethral urothelial papilloma" EXACT [NCIT:C5061]
xref: DOID:2140 {source="MONDO:equivalentTo"}
xref: MEDGEN:275549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5061 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2140"}
xref: UMLS:C1519826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275549"}
is_a: MONDO:0004041 {source="MONDO:Redundant", source="NCIT:C5061"} ! urothelial papilloma
is_a: MONDO:0004177 {source="DOID:2140", source="MONDO:Redundant", source="NCIT:C5061"} ! benign urethral neoplasm
intersection_of: MONDO:0004041 ! urothelial papilloma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0002222
name: urethra leiomyoma
def: "A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of the urethra" EXACT [DOID:2142, NCIT:C6171]
synonym: "leiomyoma of urethra" EXACT [NCIT:C6171]
synonym: "urethra leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6171]
synonym: "urethral leiomyoma" EXACT [NCIT:C6171]
xref: DOID:2142 {source="MONDO:equivalentTo"}
xref: MEDGEN:237035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6171 {source="DOID:2142", source="MONDO:equivalentTo"}
xref: UMLS:C1336888 {source="MEDGEN:237035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001572 {source="DOID:2142", source="MONDO:Redundant", source="NCIT:C6171"} ! leiomyoma
is_a: MONDO:0004177 {source="DOID:2142", source="MONDO:Redundant", source="NCIT:C6171"} ! benign urethral neoplasm
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0002223
name: ovarian malignant mesothelioma
def: "A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement." [NCIT:C40444]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant mesothelioma (disease) of ovary" EXACT []
synonym: "ovarian malignant mesothelioma" EXACT [NCIT:C40444]
synonym: "ovary malignant mesothelioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:2143 {source="MONDO:equivalentTo"}
xref: MEDGEN:274089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40444 {source="DOID:2143", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518721 {source="MEDGEN:274089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006292 {source="MONDO:Redundant", source="NCIT:C40444"} ! malignant mesothelioma
is_a: MONDO:0008170 {source="DOID:2143", source="MONDO:Redundant", source="NCIT:C40444"} ! ovarian cancer
intersection_of: MONDO:0006292 {source="NCIT:C40444"} ! malignant mesothelioma
intersection_of: disease_has_location UBERON:0000992 {source="NCIT:C40444"} ! ovary

[Term]
id: MONDO:0002224
name: malignant ovarian cyst
def: "A cystic cancerous tumor arising from the ovary." [NCIT:C3843]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant ovarian cyst" EXACT [NCIT:C3843]
synonym: "malignant ovarian cyst (disease)" EXACT []
synonym: "ovarian cyst (disease), malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:2145 {source="MONDO:equivalentTo"}
xref: MEDGEN:116000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3843 {source="DOID:2145", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0235770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116000"}
is_a: MONDO:0008170 {source="DOID:2145", source="NCIT:C3843"} ! ovarian cancer
intersection_of: MONDO:0003282 ! ovarian cyst
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0002225
name: ovarian sarcoma
def: "A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor." [NCIT:C8267]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovarian sarcoma" EXACT [NCIT:C8267]
synonym: "ovary sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of ovary" EXACT [DOID:2146, MONDO:patterns/sarcoma, NCIT:C8267]
synonym: "sarcoma of the ovary" EXACT [NCIT:C8267]
xref: DOID:2146 {source="MONDO:equivalentTo"}
xref: MEDGEN:128881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8267 {source="DOID:2146", source="MONDO:equivalentTo"}
xref: SCTID:423627007 {source="DOID:2146", source="MONDO:equivalentTo"}
xref: UMLS:C0280746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:128881"}
is_a: MONDO:0005089 {source="DOID:2146", source="MONDO:Redundant", source="NCIT:C8267/inferred"} ! sarcoma
is_a: MONDO:0008170 {source="DOID:2146", source="MONDO:Redundant", source="NCIT:C8267"} ! ovarian cancer
is_a: MONDO:0018078 {source="NCIT:C8267"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0002226
name: tuberculous oophoritis
def: "An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:2148 {source="MONDO:equivalentTo"}
xref: ICD10CM:A18.17 {source="DOID:2148"}
xref: ICD9:016.6 {source="DOID:2148"}
xref: ICD9:016.60 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:546959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186242002 {source="DOID:2148"}
xref: SCTID:186243007 {source="DOID:2148"}
xref: SCTID:84194006 {source="MONDO:equivalentTo"}
xref: UMLS:C0275932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:546959"}
is_a: MONDO:0006002 {source="DOID:2148", source="MONDO:Redundant"} ! urogenital tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_inflammation_site UBERON:0000992 ! ovary

[Term]
id: MONDO:0002227
name: ovarian lymphoma
def: "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected." [NCIT:C40021]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian lymphoma" EXACT [NCIT:C40021]
synonym: "ovary lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary ovarian lymphoma" EXACT [NCIT:C40021]
xref: DOID:2150 {source="MONDO:equivalentTo"}
xref: MEDGEN:276669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40021 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2150"}
xref: UMLS:C1518720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276669"}
is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C40021/inferred"} ! lymphoma
is_a: MONDO:0008170 {source="DOID:2150", source="NCIT:C40021"} ! ovarian cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0002228
name: obsolete malignant ovarian surface epithelial-stromal neoplasm
is_obsolete: true
replaced_by: MONDO:0018364

[Term]
id: MONDO:0002229
name: ovarian epithelial tumor
def: "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor." [NCIT:C4381]
subset: otar {source="MONDO:OTAR"}
synonym: "epithelial neoplasm of ovary" EXACT [NCIT:C4381]
synonym: "epithelial neoplasm of the ovary" EXACT [NCIT:C4381]
synonym: "epithelial tumor of ovary" EXACT [DOID:2152, NCIT:C4381]
synonym: "epithelial tumor of the ovary" EXACT [NCIT:C4381]
synonym: "epithelial tumour of ovary" EXACT OMO:0003005 []
synonym: "epithelial tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian epithelial tumor" EXACT [NCIT:C4381]
synonym: "ovarian surface epithelial-stromal tumor" EXACT [DOID:2152, NCIT:C4381]
synonym: "ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 []
synonym: "ovarian surface-epithelial stromal neoplasm" EXACT [NCIT:C4381]
synonym: "ovary epithelial cancer" RELATED [DOID:2152]
synonym: "ovary epithelial neoplasm" EXACT [MONDO:patterns/location]
synonym: "OVT" RELATED ABBREVIATION [ONCOTREE:OVT]
xref: DOID:2152 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4381 {source="MONDO:equivalentTo", source="DOID:2152"}
xref: ONCOTREE:OVT {source="MONDO:equivalentTo"}
xref: SCTID:237057005 {source="MONDO:equivalentTo", source="DOID:2152"}
xref: UMLS:C0341823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90969"}
is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C4381"} ! epithelial neoplasm
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C4381"} ! ovarian neoplasm
intersection_of: MONDO:0005626 {source="NCIT:C4381"} ! epithelial neoplasm
intersection_of: disease_has_location UBERON:0000992 {source="NCIT:C4381"} ! ovary
relationship: disease_arises_from_structure UBERON:0001304 {source="NCIT:C4381"} ! germinal epithelium of ovary

[Term]
id: MONDO:0002230
name: ovarian Wilms tumor
def: "An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass." [NCIT:C40443]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian Wilms tumor" EXACT [NCIT:C40443]
synonym: "ovarian Wilms' cancer" RELATED [DOID:2153]
synonym: "ovarian Wilms' tumor" EXACT [DOID:2153, NCIT:C40443]
synonym: "ovarian Wilms' tumour" EXACT OMO:0003005 []
synonym: "ovary Wilms tumor" EXACT [MONDO:patterns/location]
synonym: "ovary Wilms tumour" EXACT OMO:0003005 []
xref: DOID:2153 {source="MONDO:equivalentTo"}
xref: MEDGEN:275296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40443 {source="DOID:2153", source="MONDO:equivalentTo"}
xref: UMLS:C1518746 {source="MEDGEN:275296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006058 {source="MONDO:Redundant", source="NCIT:C40443"} ! Wilms tumor
is_a: MONDO:0008170 {source="DOID:2153", source="MONDO:Redundant", source="NCIT:C40443"} ! ovarian cancer
intersection_of: MONDO:0006058 {source="NCIT:C40443"} ! Wilms tumor
intersection_of: disease_has_location UBERON:0000992 {source="NCIT:C40443"} ! ovary

[Term]
id: MONDO:0002231
name: obsolete malignant ovarian germ cell neoplasm
is_obsolete: true
replaced_by: MONDO:0018171

[Term]
id: MONDO:0002232
name: nasal cavity disorder
def: "A disease involving the nasal cavity." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of nasal cavity" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nasal cavity" EXACT []
synonym: "disorder of nasal cavity" EXACT [MONDO:patterns/location_top]
synonym: "nasal cavity disease" EXACT [MONDO:patterns/location, NCIT:C27102]
synonym: "nasal cavity disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nasal cavity disorder" EXACT [NCIT:C27102]
xref: DOID:2163 {source="MONDO:equivalentTo"}
xref: MEDGEN:137929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27102 {source="MONDO:equivalentTo", source="DOID:2163"}
xref: SCTID:195823002 {source="DOID:2163"}
xref: SCTID:232340005 {source="MONDO:equivalentTo", source="DOID:2163"}
xref: SCTID:232359007 {source="DOID:2163"}
xref: UMLS:C0339820 {source="MEDGEN:137929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002436 {source="DOID:2163", source="MONDO:Redundant"} ! nasal disorder
is_a: MONDO:0004867 {source="DOID:2163/inferred", source="MONDO:Redundant"} ! upper respiratory tract disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0002233
name: enamel caries
def: "A dental caries that involves the enamel." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "dental caries limited to enamel" EXACT [DOID:217, ICD9CM:521.01]
synonym: "dental caries of enamel" EXACT [MONDO:design_pattern]
synonym: "enamel dental caries" EXACT [MONDO:patterns/location]
synonym: "primary dental caries" EXACT [DOID:217]
synonym: "simple dental cavity" EXACT [DOID:217]
xref: DOID:217 {source="MONDO:equivalentTo"}
xref: ICD9:521.01 {source="DOID:217", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:540214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:109570002 {source="DOID:217"}
xref: SCTID:19437001 {source="DOID:217"}
xref: SCTID:196303003 {source="DOID:217"}
xref: SCTID:80353004 {source="DOID:217", source="MONDO:equivalentTo"}
xref: UMLS:C0266853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540214"}
is_a: MONDO:0005276 {source="DOID:217", source="MONDO:Redundant"} ! dental caries
intersection_of: MONDO:0005276 ! dental caries
intersection_of: disease_has_location UBERON:0001752 ! enamel

[Term]
id: MONDO:0002234
name: vaginitis
def: "A non-infectious or infectious inflammatory process affecting the vagina." [NCIT:C26911]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of vagina" EXACT []
synonym: "vagina inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "vaginal Inflammation" EXACT [NCIT:C26911]
synonym: "vaginal inflammation" EXACT [NCIT:C26911]
synonym: "vaginitis" EXACT [MONDO:ambiguous, NCIT:C26911]
synonym: "vaginitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2170 {source="MONDO:equivalentTo"}
xref: HP:0030683 {source="MONDO:otherHierarchy"}
xref: ICD9:616.1 {source="DOID:2170"}
xref: ICD9:616.10 {source="DOID:2170"}
xref: MEDGEN:21815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014627 {source="MONDO:equivalentTo", source="DOID:2170"}
xref: NCIT:C26911 {source="MONDO:equivalentTo", source="DOID:2170"}
xref: SCTID:155981006 {source="DOID:2170"}
xref: SCTID:198212006 {source="DOID:2170"}
xref: SCTID:198213001 {source="DOID:2170"}
xref: SCTID:198223005 {source="DOID:2170"}
xref: SCTID:266655004 {source="DOID:2170"}
xref: SCTID:30800001 {source="MONDO:equivalentTo", source="DOID:2170"}
xref: SCTID:393596009 {source="DOID:2170"}
xref: UMLS:C0042267 {source="MONDO:equivalentTo", source="MEDGEN:21815", source="MONDO:MEDGEN"}
is_a: MONDO:0001433 {source="DOID:2170", source="MESH:D014627", source="MONDO:Redundant", source="NCIT:C26911/inferred"} ! vaginal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina
property_value: IAO:0000589 "vaginitis (disease)" xsd:string

[Term]
id: MONDO:0002235
name: eyelid neoplasm
def: "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma." [NCIT:C3031]
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "eyelid neoplasm" EXACT [NCIT:C3031]
synonym: "eyelid neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "eyelid tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3031]
synonym: "eyelid tumour" EXACT OMO:0003005 []
synonym: "neoplasm of eyelid" EXACT [MONDO:patterns/neoplasm, NCIT:C3031]
synonym: "neoplasm of the eyelid" EXACT [NCIT:C3031]
synonym: "palpebral tumor" EXACT [MONDO:0020171]
synonym: "palpebral tumour" EXACT OMO:0003005 []
synonym: "tumor of eyelid" EXACT [MONDO:patterns/neoplasm, NCIT:C3031]
synonym: "tumor of the eyelid" EXACT [DOID:2173, NCIT:C3031]
synonym: "tumour of eyelid" EXACT OMO:0003005 []
synonym: "tumour of the eyelid" EXACT OMO:0003005 []
xref: DOID:2173 {source="MONDO:equivalentTo"}
xref: EFO:1000934 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:41939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005142 {source="MONDO:equivalentTo", source="DOID:2173"}
xref: NCIT:C3031 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2173"}
xref: Orphanet:98580 {source="MONDO:equivalentObsolete"}
xref: SCTID:278697001 {source="MONDO:equivalentTo", source="DOID:2173"}
xref: UMLS:C0015424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41939"}
is_a: MONDO:0002531 {source="DOID:2173", source="EFO:1000934", source="MONDO:Entailed"} ! skin neoplasm
is_a: MONDO:0003382 {source="MESH:D005142", source="MONDO:Entailed", source="NCIT:C3031", source="Orphanet:98580"} ! eyelid disorder
is_a: MONDO:0005586 {source="MONDO:Redundant"} ! head and neck neoplasm
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C3031"} ! eye neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001711 ! eyelid
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020151"} ! rare

[Term]
id: MONDO:0002236
name: ocular cancer
def: "A benign or malignant neoplasm affecting the structures of the eye." [NCIT:P378]
comment: Editor note: check to see whether structure is eye or eye + adnexa
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of eye" EXACT [MONDO:patterns/cancer, NCIT:C4767]
synonym: "cancer of eyeball of camera-type eye" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the eye" EXACT [NCIT:C4767]
synonym: "eye cancer" EXACT [MONDO:patterns/location, NCIT:C4767]
synonym: "eye neoplasm" BROAD [DOID:2174]
synonym: "eye neoplasm, malignant" EXACT [NCIT:C4767]
synonym: "eyeball of camera-type eye cancer" EXACT []
synonym: "malignant eye cancer, NOS" RELATED EXCLUDE [NCIT:C4767]
synonym: "malignant eye neoplasm" EXACT [DOID:2174, MONDO:patterns/cancer, NCIT:C4767]
synonym: "malignant eye tumor" EXACT [NCIT:C4767]
synonym: "malignant eye tumour" EXACT OMO:0003005 []
synonym: "malignant eyeball of camera-type eye neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of eye" EXACT [MONDO:patterns/cancer, NCIT:C4767]
synonym: "malignant neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the eye" EXACT [NCIT:C4767]
synonym: "malignant ocular neoplasm" EXACT [NCIT:C4767]
synonym: "malignant ocular tumor" EXACT [NCIT:C4767]
synonym: "malignant ocular tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of eye" EXACT [NCIT:C4767]
synonym: "malignant tumor of the eye" EXACT [NCIT:C4767]
synonym: "malignant tumour of eye" EXACT OMO:0003005 []
synonym: "malignant tumour of the eye" EXACT OMO:0003005 []
synonym: "neoplasm of eye" BROAD [DOID:2174]
synonym: "neoplasm of eye proper" RELATED [DOID:2174]
synonym: "ocular tumor" BROAD [DOID:2174, NCIT:C3030]
synonym: "ocular tumour" BROAD OMO:0003005 []
xref: DOID:2174 {source="MONDO:equivalentTo"}
xref: ICD9:190.8 {source="DOID:2174"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:105418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005134 {source="MONDO:equivalentTo", source="DOID:2174"}
xref: NCIT:C3030 {source="DOID:2174"}
xref: NCIT:C4767 {source="MONDO:equivalentTo"}
xref: SCTID:126995000 {source="DOID:2174"}
xref: SCTID:188277006 {source="DOID:2174"}
xref: SCTID:371486001 {source="MONDO:equivalentTo", source="DOID:2174"}
xref: UMLS:C0496836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105418"}
is_a: MONDO:0000649 {source="DOID:2174", source="MONDO:Entailed", source="MONDO:Redundant"} ! sensory system cancer
is_a: MONDO:0005328 {source="DOID:2174", source="MESH:D005134", source="MONDO:Redundant", source="NCIT:C4767/inferred"} ! eye disorder
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4767"} ! eye neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0002237
name: carbuncle
def: "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration." [MESH:D002270]
synonym: "carbuncle and furuncle of any part of face except eye" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of buttock" EXACT [DOID:2176, ICD9CM:680.5]
synonym: "carbuncle and furuncle of face" EXACT [DOID:2176, ICD9CM:680.0]
synonym: "carbuncle and furuncle of foot" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of gluteal region" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of hand" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of leg except foot" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of neck" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of trunk" EXACT [DOID:2176]
synonym: "carbuncle and furuncle of upper arm and forearm" EXACT [DOID:2176]
xref: DOID:2176 {source="MONDO:equivalentTo"}
xref: ICD9:680.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:680.9 {source="DOID:2176", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:2866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002270 {source="MONDO:equivalentTo"}
xref: SCTID:416893007 {source="MONDO:equivalentTo"}
xref: UMLS:C0007078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2866"}
is_a: MONDO:0002922 {source="DOID:2176"} ! pyoderma

[Term]
id: MONDO:0002238
name: ascending colon cancer
def: "A malignant neoplasm involving the ascending colon." [https://orcid.org/0000-0002-6601-2165]
synonym: "ascending colon cancer" EXACT [MONDO:patterns/location]
synonym: "Ca ascending colon" EXACT [DOID:218]
synonym: "cancer of ascending colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant ascending colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of ascending colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of right colon" EXACT [DOID:218]
synonym: "malignant tumor of ascending colon" EXACT [DOID:218]
synonym: "malignant tumour of ascending colon" EXACT OMO:0003005 []
xref: DOID:218 {source="MONDO:equivalentTo"}
xref: ICD10CM:C18.2 {source="DOID:218"}
xref: ICD9:153.6 {source="DOID:218", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154460005 {source="DOID:218"}
xref: SCTID:269539001 {source="DOID:218"}
xref: SCTID:363412000 {source="DOID:218", source="MONDO:equivalentTo"}
xref: SCTID:93683002 {source="DOID:218"}
xref: UMLS:C0153439 {source="MEDGEN:509293", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021063 {source="DOID:218", source="MONDO:Redundant"} ! malignant colon neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001156 ! ascending colon

[Term]
id: MONDO:0002239
name: post-surgical hypoinsulinemia
synonym: "postsurgical hypoinsulinemia" EXACT [DOID:2181, ICD9CM:251.3]
xref: DOID:2181 {source="MONDO:equivalentTo"}
xref: ICD10CM:E89.1 {source="DOID:2181"}
xref: ICD9:251.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2181"}
xref: MEDGEN:509539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190437000 {source="MONDO:equivalentTo", source="DOID:2181"}
xref: SCTID:78483000 {source="DOID:2181"}
xref: UMLS:C0154190 {source="MEDGEN:509539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001933 {source="DOID:2181"} ! endocrine pancreas disorder

[Term]
id: MONDO:0002240
name: acute perichondritis of pinna
def: "Acute form of perichondritis of auricle." [MONDO:patterns/acute]
synonym: "acute perichondritis of auricle" EXACT [MONDO:design_pattern]
synonym: "perichondritis of auricle, acute" EXACT [MONDO:patterns/acute]
xref: DOID:221 {source="MONDO:equivalentTo"}
xref: ICD9:380.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:221"}
xref: MEDGEN:509946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:45855004 {source="MONDO:equivalentTo", source="DOID:221"}
xref: UMLS:C0155390 {source="MEDGEN:509946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002246 {source="DOID:221", source="MONDO:Redundant"} ! perichondritis of auricle
intersection_of: MONDO:0002246 ! perichondritis of auricle
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0002241
name: factor XIII deficiency
def: "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FXIIID" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: MEDGEN:1385982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005177 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:2200681 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C4316906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385982"}
is_a: MONDO:0002242 {source="https://orcid.org/0000-0002-6601-2165"} ! coagulation protein disease
relationship: disease_has_basis_in_disruption_of GO:0003810 ! protein-glutamine gamma-glutamyltransferase activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0002242
name: coagulation protein disease
def: "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding." [NCIT:C27215]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coagulation factor deficiency" EXACT [NCIT:C27215]
synonym: "coagulation factor deficiency syndrome" EXACT [NCIT:C27215]
xref: DOID:2212 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:108723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020147 {source="DOID:2212", source="MONDO:equivalentTo"}
xref: NCIT:C27215 {source="MONDO:equivalentTo"}
xref: SCTID:86075001 {source="MONDO:equivalentTo"}
xref: UMLS:C0600503 {source="MEDGEN:108723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001531 {source="DOID:2212", source="MESH:D020147", source="NCIT:C27215"} ! blood coagulation disease

[Term]
id: MONDO:0002243
name: hemorrhagic disease
def: "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." [MESH:D006474]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bleeding diathesis" EXACT [NCIT:C115221]
synonym: "bleeding disorder" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "bleeding predisposition" EXACT [NCIT:C115221]
synonym: "bleeding tendency" EXACT [NCIT:C115221]
synonym: "hemorrhagic diathesis" EXACT [DOID:2213]
synonym: "hemorrhagic disease" EXACT [DOID:2213]
xref: DOID:2213 {source="MONDO:equivalentTo"}
xref: ICD10CM:D65-D69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D69.9 {source="DOID:2213"}
xref: ICD9:287.9 {source="DOID:2213"}
xref: MEDGEN:6799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006474 {source="DOID:2213", source="MONDO:equivalentTo"}
xref: NCIT:C115221 {source="MONDO:equivalentTo"}
xref: SCTID:191327000 {source="DOID:2213"}
xref: SCTID:191331006 {source="DOID:2213"}
xref: SCTID:191437009 {source="DOID:2213"}
xref: SCTID:268884000 {source="DOID:2213"}
xref: UMLS:C0019087 {source="MONDO:equivalentTo", source="MEDGEN:6799", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="DOID:2213/inferred", source="MESH:D006474", source="NCIT:C115221/inferred"} ! hematologic disorder

[Term]
id: MONDO:0002244
name: factor VII deficiency
def: "A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood." [NCIT:C131631]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency, stable" EXACT [DOID:2215]
synonym: "F7 deficiency" EXACT [OMIM:227500]
synonym: "factor 7 deficiency" EXACT [MESH:D005168]
synonym: "factor VII deficiency" EXACT CLINGEN_LABEL [DOID:2215]
xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005168 {source="MONDO:equivalentTo"}
xref: NANDO:2200675 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:37193007 {source="MONDO:equivalentTo"}
xref: UMLS:C0015503 {source="MEDGEN:8769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MESH:D005168"} ! coagulation protein disease
is_a: MONDO:0002243 {source="MESH:D005168"} ! hemorrhagic disease

[Term]
id: MONDO:0002245
name: blood platelet disease
def: "Disorders caused by abnormalities in platelet count or function." [MESH:D001791]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "platelet abnormality" EXACT [NCIT:C131634]
synonym: "platelet disorder" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C131634]
synonym: "thrombocytopathy" RELATED []
xref: MEDGEN:57492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001791 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: NCIT:C131634 {source="MONDO:equivalentTo"}
xref: SCTID:22716005 {source="MONDO:equivalentTo"}
xref: UMLS:C0151854 {source="MEDGEN:57492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="MESH:D001791"} ! hematologic disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of CL:0000233 ! platelet

[Term]
id: MONDO:0002246
name: perichondritis of auricle
def: "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." [DOID:222, http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh, http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm]
synonym: "perichondritis and chondritis of pinna" EXACT [DOID:222, ICD9CM:380.0]
synonym: "perichondritis of pinna" EXACT [DOID:222]
synonym: "perichondritis of pinna, unspecified" EXACT [DOID:222, ICD9CM:380.00]
xref: DOID:222 {source="MONDO:equivalentTo"}
xref: ICD10CM:H61.0 {source="DOID:222"}
xref: ICD10CM:H61.00 {source="DOID:222"}
xref: ICD10CM:H61.009 {source="DOID:222"}
xref: ICD9:380.0 {source="DOID:222"}
xref: ICD9:380.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:222"}
xref: MEDGEN:509945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155210008 {source="DOID:222"}
xref: SCTID:194194008 {source="DOID:222"}
xref: SCTID:194197001 {source="DOID:222"}
xref: SCTID:236871000119109 {source="DOID:222"}
xref: SCTID:34129005 {source="MONDO:equivalentTo", source="DOID:222"}
xref: UMLS:C0155389 {source="MEDGEN:509945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004795 {source="DOID:222"} ! otitis externa

[Term]
id: MONDO:0002247
name: factor X deficiency
def: "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." [NCIT:C131632]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:4635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005171 {source="MONDO:equivalentTo"}
xref: NANDO:2200678 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131632 {source="MONDO:equivalentTo"}
xref: SCTID:76642003 {source="https://github.com/monarch-initiative/mondo/issues/2944", source="MONDO:equivalentTo"}
xref: UMLS:C0015519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4635"}
is_a: MONDO:0002242 {source="MESH:D005171"} ! coagulation protein disease
is_a: MONDO:0002243 {source="MESH:D005171"} ! hemorrhagic disease
relationship: disease_disrupts GO:0004252 ! serine-type endopeptidase activity

[Term]
id: MONDO:0002248
name: obsolete myeloproliferative neoplasm
is_obsolete: true
replaced_by: MONDO:0020076

[Term]
id: MONDO:0002249
name: thrombocytosis disease
def: "A disease characterized by higher than normal platelet counts in the peripheral blood." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "elevated Platelet count" EXACT [NCIT:C35530]
synonym: "Platelet count increased" EXACT [NCIT:C35530]
synonym: "Thrombocythaemia" EXACT [DOID:2228, OMIMPS:187950]
synonym: "thrombocytosis" RELATED [DOID:2228]
xref: DOID:2228 {source="MONDO:equivalentTo"}
xref: ICD9:289.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013922 {source="MONDO:equivalentTo", source="DOID:2228"}
xref: NCIT:C35530 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:2228", source="MONDO:exact-label-match"}
xref: SCTID:142970009 {source="DOID:2228"}
xref: SCTID:165557006 {source="DOID:2228"}
xref: SCTID:415115007 {source="DOID:2228"}
xref: SCTID:6631009 {source="MONDO:equivalentTo", source="DOID:2228"}
xref: SCTID:79574003 {source="DOID:2228"}
xref: UMLS:C0836924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163397"}
is_a: MONDO:0002245 {source="DOID:2228", source="MESH:D013922"} ! blood platelet disease
relationship: disease_has_feature HP:0001894 ! Thrombocytosis

[Term]
id: MONDO:0002250
name: basilar artery insufficiency
def: "A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function." [NCIT:C34413]
synonym: "basilar artery syndrome" EXACT [DOID:223, ICD9CM:435.0, NCIT:C34413]
xref: DOID:223 {source="MONDO:equivalentTo"}
xref: ICD9:435.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:223"}
xref: MEDGEN:14039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014715 {source="MONDO:relatedTo", source="DOID:223"}
xref: NCIT:C34413 {source="MONDO:equivalentTo", source="DOID:223"}
xref: SCTID:195197005 {source="DOID:223"}
xref: SCTID:64009001 {source="MONDO:equivalentTo", source="DOID:223"}
xref: UMLS:C0004812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14039"}
is_a: MONDO:0002254 {source="DOID:223", source="MONDO:Redundant", source="NCIT:C34413"} ! syndromic disease
intersection_of: MONDO:0020674 ! vascular insufficiency disorder
intersection_of: disease_has_location UBERON:0001633 ! basilar artery

[Term]
id: MONDO:0002251
name: hepatitis
def: "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders." [NCIT:P378]
synonym: "acute and subacute liver necrosis" NARROW [DOID:2237]
synonym: "acute hepatitis" NARROW [DOID:2237]
synonym: "acute/subac. necrosis of liver" NARROW [DOID:2237]
synonym: "animal hepatitis" NARROW [DOID:2237]
synonym: "chronic hepatitis" NARROW [DOID:2237]
synonym: "chronic persistent hepatitis" NARROW [DOID:2237]
synonym: "Hepatitides" RELATED [MESH:D006505]
synonym: "Hepatitis" EXACT [NCIT:C3095]
synonym: "hepatitis" EXACT [NCIT:C3095]
synonym: "inflammation of liver" EXACT []
synonym: "liver inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2237 {source="MONDO:equivalentTo"}
xref: ICD10CM:K73.9 {source="DOID:2237"}
xref: ICD9:570 {source="DOID:2237", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:571.4 {source="DOID:2237"}
xref: ICD9:571.40 {source="DOID:2237"}
xref: ICD9:571.41 {source="DOID:2237"}
xref: MEDGEN:5515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006505 {source="MONDO:equivalentTo"}
xref: MESH:D006521 {source="DOID:2237"}
xref: NCIT:C3095 {source="MONDO:equivalentTo"}
xref: NCIT:C82978 {source="DOID:2237"}
xref: SCTID:155808003 {source="DOID:2237"}
xref: SCTID:155813004 {source="DOID:2237"}
xref: SCTID:197268000 {source="DOID:2237", source="MONDO:equivalentTo"}
xref: SCTID:197278002 {source="DOID:2237"}
xref: SCTID:197288001 {source="DOID:2237"}
xref: SCTID:197289009 {source="DOID:2237"}
xref: SCTID:266536009 {source="DOID:2237"}
xref: SCTID:266539002 {source="DOID:2237"}
xref: SCTID:41889008 {source="DOID:2237"}
xref: SCTID:76783007 {source="DOID:2237"}
xref: UMLS:C0019158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5515"}
is_a: MONDO:0005154 {source="DOID:2237", source="MESH:D006505", source="MONDO:Redundant", source="NCIT:C3095/inferred"} ! liver disorder
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_inflammation_site UBERON:0002107 ! liver
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain

[Term]
id: MONDO:0002252
name: granulomatous hepatitis
def: "Hepatitis that is characterized by the presence of granulomas." [NCIT:P378]
xref: DOID:2239 {source="MONDO:equivalentTo"}
xref: MEDGEN:115987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27015 {source="MONDO:equivalentTo", source="DOID:2239"}
xref: SCTID:86514004 {source="MONDO:equivalentTo", source="DOID:2239"}
xref: UMLS:C0235369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:115987"}
is_a: MONDO:0002251 {source="DOID:2239", source="NCIT:C27015"} ! hepatitis

[Term]
id: MONDO:0002253
name: spondylosis
def: "A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue." [MESH:D055009]
subset: otar {source="MONDO:OTAR"}
synonym: "lumbar spondylosis with myelopathy" EXACT [DOID:2247]
synonym: "lumbosacral spondylosis without myelopathy" EXACT [DOID:2247]
synonym: "spondylogenic compression of lumbar spinal cord" EXACT [DOID:2247]
synonym: "spondylogenic compression of thoracic spinal cord" EXACT [DOID:2247]
synonym: "spondylosis with myelopathy" EXACT [DOID:2247]
synonym: "thoracic or lumbar spondylosis with myelopathy" EXACT [DOID:2247]
xref: DOID:2247 {source="MONDO:equivalentTo"}
xref: ICD10CM:M47 {source="MONDO:equivalentTo", source="DOID:2247"}
xref: ICD10CM:M47.9 {source="DOID:2247"}
xref: ICD9:721.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:721.9 {source="DOID:2247"}
xref: MEDGEN:21295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055009 {source="MONDO:equivalentTo", source="DOID:2247"}
xref: SCTID:156622007 {source="DOID:2247"}
xref: SCTID:156628006 {source="DOID:2247"}
xref: SCTID:202701004 {source="DOID:2247"}
xref: SCTID:202704007 {source="DOID:2247"}
xref: SCTID:267973008 {source="DOID:2247"}
xref: SCTID:268074002 {source="DOID:2247"}
xref: SCTID:268075001 {source="DOID:2247"}
xref: SCTID:48210000 {source="MONDO:equivalentTo"}
xref: SCTID:8847002 {source="MONDO:relatedTo", source="DOID:2247"}
xref: UMLS:C0038019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21295"}
is_a: MONDO:0000836 {source="DOID:2247"} ! disease of bone structure

[Term]
id: MONDO:0002254
name: syndromic disease
def: "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." [NCIT:C28193]
subset: harrisons_view
subset: rare_grouping
synonym: "cluster, symptom" EXACT [MESH:D013577]
synonym: "clusters, symptom" EXACT [MESH:D013577]
synonym: "symptom cluster" EXACT [MESH:D013577]
synonym: "symptom clusters" EXACT [MESH:D013577]
synonym: "syndrome" EXACT [NCIT:C28193, OGMS:0000086]
synonym: "syndrome associated with disease or disorder" EXACT [MONDO:patterns/syndromic]
synonym: "syndromes" EXACT [MESH:D013577]
synonym: "syndromic disease" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic disease or disorder" EXACT [MONDO:patterns/syndromic]
xref: DOID:225 {source="MONDO:equivalentTo"}
xref: MEDGEN:11688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013577 {source="DOID:225", source="MONDO:equivalentTo"}
xref: NCIT:C28193 {source="DOID:225", source="MONDO:equivalentTo"}
xref: OGMS:0000086 {source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:64572001 {source="DOID:225"}
xref: UMLS:C0039082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11688"}
is_a: MONDO:0000001 {source="DOID:225", source="MESH:D013577", source="MONDO:Redundant", source="NCIT:C28193"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation
disjoint_from: MONDO:0011348 ! non-syndromic polydactyly
disjoint_from: MONDO:0019530 ! non-syndromic syndactyly

[Term]
id: MONDO:0002255
name: hypertrophic elongation of cervix
xref: DOID:2251 {source="MONDO:equivalentTo"}
xref: ICD10CM:N88.4 {source="DOID:2251"}
xref: ICD9:622.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2251"}
xref: MEDGEN:507825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198353000 {source="MONDO:equivalentTo", source="DOID:2251"}
xref: SCTID:35863000 {source="DOID:2251"}
xref: UMLS:C0020561 {source="MEDGEN:507825", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002256 {source="DOID:2251"} ! cervix disorder

[Term]
id: MONDO:0002256
name: cervix disorder
def: "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cervical disorder" EXACT [NCIT:C40241]
synonym: "disease of uterine cervix" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of uterine cervix" EXACT []
synonym: "disorder of uterine cervix" EXACT [MONDO:patterns/location_top]
synonym: "uterine cervix disease" EXACT [MONDO:patterns/location]
synonym: "uterine cervix disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:2253 {source="MONDO:equivalentTo"}
xref: MEDGEN:2970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002577 {source="DOID:2253", source="MONDO:equivalentTo"}
xref: NCIT:C40241 {source="DOID:2253", source="MONDO:equivalentTo"}
xref: SCTID:156010005 {source="DOID:2253"}
xref: SCTID:156014001 {source="DOID:2253"}
xref: SCTID:266661001 {source="DOID:2253"}
xref: SCTID:286988004 {source="DOID:2253"}
xref: SCTID:63339007 {source="DOID:2253", source="MONDO:equivalentTo"}
xref: UMLS:C0007867 {source="MEDGEN:2970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:2253", source="MESH:D002577", source="MONDO:Redundant", source="NCIT:C40241"} ! uterine disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0002257
name: ankylosis
def: "Fixation and immobility of a joint." [MESH:D000844]
subset: otar {source="MONDO:OTAR"}
synonym: "ankylosis" EXACT [MONDO:ambiguous]
synonym: "ankylosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:227 {source="MONDO:equivalentTo"}
xref: HP:0031013 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M24.6 {source="DOID:227"}
xref: ICD9:718.5 {source="DOID:227"}
xref: ICD9:718.50 {source="DOID:227"}
xref: MEDGEN:8101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000844 {source="DOID:227", source="MONDO:equivalentTo"}
xref: SCTID:111227009 {source="DOID:227", source="MONDO:equivalentTo"}
xref: SCTID:156559001 {source="DOID:227"}
xref: SCTID:156569007 {source="DOID:227"}
xref: SCTID:202297005 {source="DOID:227"}
xref: SCTID:202323002 {source="DOID:227"}
xref: SCTID:36504009 {source="DOID:227"}
xref: UMLS:C0003090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8101"}
is_a: MONDO:0006816 {source="DOID:227", source="MESH:D000844"} ! arthropathy
property_value: IAO:0000589 "ankylosis (disease)" xsd:string

[Term]
id: MONDO:0002258
name: pharyngitis
def: "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma." [NCIT:C26851]
subset: otar {source="MONDO:OTAR"}
synonym: "acute pharyngitis" NARROW [DOID:2275, ICD9CM:462]
synonym: "acute sore throat" NARROW [DOID:2275]
synonym: "chronic pharyn/nasopharyngitis" NARROW [DOID:2275]
synonym: "chronic pharyngitis" NARROW [DOID:2275, ICD9CM:472.1]
synonym: "chronic pharyngitis and nasopharyngitis" NARROW [DOID:2275]
synonym: "chronic sore throat" NARROW [DOID:2275]
synonym: "inflamed throat" EXACT [DOID:2275]
synonym: "inflammation of throat" EXACT []
synonym: "persistent sore throat" NARROW [DOID:2275]
synonym: "pharyngeal disease" BROAD [DOID:2275]
synonym: "pharyngeal disorder" BROAD [DOID:2275]
synonym: "pharyngitis - acute" NARROW [DOID:2275]
synonym: "Sore throat" EXACT [NCIT:C26851]
synonym: "Sore throat - chronic" NARROW [DOID:2275]
synonym: "throat inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2275 {source="MONDO:equivalentTo"}
xref: ICD10CM:J02 {source="DOID:2275"}
xref: ICD10CM:J02.9 {source="DOID:2275"}
xref: ICD9:462 {source="DOID:2275"}
xref: ICD9:472 {source="DOID:2275"}
xref: ICD9:478.20 {source="DOID:2275"}
xref: MEDGEN:45846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010608 {source="DOID:2275"}
xref: MESH:D010612 {source="DOID:2275", source="MONDO:equivalentTo"}
xref: NCIT:C26850 {source="DOID:2275"}
xref: NCIT:C26851 {source="DOID:2275", source="MONDO:equivalentTo"}
xref: NCIT:C34355 {source="DOID:2275"}
xref: SCTID:141458004 {source="DOID:2275"}
xref: SCTID:155502006 {source="DOID:2275"}
xref: SCTID:155521003 {source="DOID:2275"}
xref: SCTID:164261009 {source="DOID:2275"}
xref: SCTID:195654001 {source="DOID:2275"}
xref: SCTID:195664005 {source="DOID:2275"}
xref: SCTID:195763009 {source="DOID:2275"}
xref: SCTID:195784004 {source="DOID:2275"}
xref: SCTID:195832000 {source="DOID:2275"}
xref: SCTID:266379007 {source="DOID:2275"}
xref: SCTID:266383007 {source="DOID:2275"}
xref: SCTID:27321001 {source="DOID:2275"}
xref: SCTID:363746003 {source="DOID:2275"}
xref: SCTID:367427004 {source="DOID:2275"}
xref: SCTID:37616004 {source="DOID:2275"}
xref: SCTID:405737000 {source="DOID:2275", source="MONDO:equivalentTo"}
xref: SCTID:75860007 {source="DOID:2275"}
xref: UMLS:C0031350 {source="MEDGEN:45846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004867 {source="DOID:2275"} ! upper respiratory tract disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000341 ! throat

[Term]
id: MONDO:0002259
name: gonadal disorder
def: "A non-neoplastic or neoplastic disorder that affects the testis or the ovary." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of gonad" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of gonad" EXACT []
synonym: "disorder of gonad" EXACT [MONDO:patterns/location_top]
synonym: "disorder of gonads" EXACT [NCIT:C26786]
synonym: "gonad disease" EXACT [MONDO:patterns/location]
synonym: "gonad disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "gonadal disorder" EXACT [NCIT:C26786]
synonym: "gonadal disorders" EXACT [NCIT:C26786]
xref: DOID:2277 {source="MONDO:equivalentTo"}
xref: MEDGEN:9074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006058 {source="DOID:2277", source="MONDO:equivalentTo"}
xref: NCIT:C26786 {source="DOID:2277", source="MONDO:equivalentTo"}
xref: UMLS:C0018050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9074"}
is_a: MONDO:0005151 {source="DOID:2277", source="MESH:D006058"} ! endocrine system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000991 ! gonad

[Term]
id: MONDO:0002260
name: hidradenitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland." [MONDO:patterns/inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
synonym: "apocrine sweat gland" EXACT [NCIT:C32132]
synonym: "apocrine sweat gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Hydradenitis" EXACT [DOID:2282]
synonym: "inflammation of apocrine sweat gland" EXACT []
xref: DOID:2282 {source="MONDO:equivalentTo"}
xref: ICD9:705.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2282"}
xref: MEDGEN:43115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016575 {source="MONDO:equivalentTo", source="DOID:2282"}
xref: NCIT:C112190 {source="MONDO:otherHierarchy", source="DOID:2282"}
xref: NCIT:C32132 {source="MONDO:equivalentTo"}
xref: SCTID:156417004 {source="DOID:2282"}
xref: SCTID:201204008 {source="DOID:2282"}
xref: SCTID:267814008 {source="DOID:2282"}
xref: SCTID:267866004 {source="DOID:2282"}
xref: SCTID:69741000 {source="MONDO:equivalentTo", source="DOID:2282"}
xref: UMLS:C0085160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43115"}
is_a: MONDO:0006615 {source="DOID:2282", source="MESH:D016575", source="MONDO:Redundant", source="MONDO:indirect"} ! sweat gland disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000382 ! apocrine sweat gland

[Term]
id: MONDO:0002261
name: keratopathy
def: "Any disorder of the cornea." [NCIT:P378]
xref: DOID:2283 {source="MONDO:equivalentTo"}
xref: MEDGEN:68615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27012 {source="MONDO:equivalentTo", source="DOID:2283"}
xref: UMLS:C0235270 {source="MEDGEN:68615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="DOID:2283", source="NCIT:C27012/inferred"} ! corneal disorder

[Term]
id: MONDO:0002262
name: capillary lymphangioma
def: "A lymphangioma that involves the capillary." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "capillary lymphangioma" EXACT [MONDO:patterns/location]
synonym: "cutaneous lymphangioma" RELATED [DOID:2286]
xref: DOID:2286 {source="MONDO:equivalentTo"}
xref: MEDGEN:569678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27509 {source="DOID:2286", source="MONDO:directSiblingOf"}
xref: SCTID:445492005 {source="MONDO:equivalentTo"}
xref: UMLS:C0334543 {source="MEDGEN:569678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001574 {source="DOID:2286", source="MONDO:Entailed", source="MONDO:Redundant"} ! capillary disorder
is_a: MONDO:0002013 {source="DOID:2286", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphangioma
intersection_of: MONDO:0002013 ! lymphangioma
intersection_of: disease_has_location UBERON:0001982 ! capillary

[Term]
id: MONDO:0002263
name: female reproductive system disorder
def: "A disease involving the female reproductive system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of female genital system" RELATED []
synonym: "disease of female reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of female reproductive system" EXACT []
synonym: "disorder of female genital system" EXACT []
synonym: "disorder of female genital tract" RELATED []
synonym: "disorder of female reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "female reproductive disease" EXACT [DOID:229]
synonym: "female reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C27020]
synonym: "female reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "female reproductive system disorder" EXACT [NCIT:C27020]
synonym: "gynaecological disease" RELATED OMO:0003005 []
synonym: "gynecological disease" RELATED []
xref: DOID:229 {source="MONDO:equivalentTo"}
xref: EFO:0009549 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N80-N98 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:629.9 {source="DOID:229"}
xref: MEDGEN:65928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005831 {source="DOID:229", source="MONDO:equivalentTo"}
xref: NCIT:C27020 {source="MONDO:equivalentTo"}
xref: SCTID:156032001 {source="DOID:229"}
xref: SCTID:156066005 {source="DOID:229"}
xref: SCTID:198486002 {source="DOID:229"}
xref: SCTID:244938009 {source="DOID:229"}
xref: SCTID:266680004 {source="DOID:229"}
xref: SCTID:310789003 {source="DOID:229", source="MONDO:equivalentTo"}
xref: SCTID:38233001 {source="DOID:229"}
xref: UMLS:C0236100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65928"}
is_a: MONDO:0005039 {source="DOID:229", source="MONDO:Redundant", source="NCIT:C27020"} ! reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000474 ! female reproductive system

[Term]
id: MONDO:0002264
name: obsolete atrophy of prostate
comment: This is not a true disease, more of a phenotype or process.
synonym: "atrophic prostate" RELATED []
synonym: "atrophy of prostate" EXACT []
synonym: "prostate atrophy" RELATED []
xref: DOID:2301 {source="MONDO:obsoleteEquivalent"}
xref: ICD10WHO:N42.2 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:602.2 {source="DOID:2301", source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: SCTID:29524003 {source="DOID:2301", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2312" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0002265
name: stereotypic movement disorder
def: "Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)" [MESH:D019956]
synonym: "stereotyped repetitive movements" EXACT [DOID:2303]
synonym: "stereotyped repetitive movements NOS (finding)" EXACT [DOID:2303]
synonym: "stereotypy habit disorder" EXACT [DOID:2303]
xref: DOID:2303 {source="MONDO:equivalentTo"}
xref: ICD10CM:F98.4 {source="DOID:2303"}
xref: ICD9:307.3 {source="DOID:2303", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019956 {source="DOID:2303", source="MONDO:equivalentTo"}
xref: SCTID:5507002 {source="DOID:2303", source="MONDO:equivalentTo"}
xref: UMLS:C0038273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21320"}
is_a: MONDO:0000592 {source="DOID:2303"} ! specific developmental disorder

[Term]
id: MONDO:0002266
name: malt worker's lung
def: "An extrinsic allergic alveolitis caused by infection with Aspergillus." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alveolitis due to aspergillus clavatus" NARROW [DOID:2314]
synonym: "Aspergillus caused extrinsic allergic alveolitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Aspergillus extrinsic allergic alveolitis" EXACT []
synonym: "malt worker lung" EXACT [DOID:2314]
synonym: "malt workers lung" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Malt workers' lung" EXACT [DOID:2314, ICD9CM:495.4]
synonym: "Malt-workers' lung" EXACT [DOID:2314]
xref: DOID:2314 {source="MONDO:equivalentTo"}
xref: ICD10CM:J67.4 {source="DOID:2314"}
xref: ICD9:495.4 {source="DOID:2314", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:25897000 {source="DOID:2314", source="MONDO:equivalentTo"}
xref: UMLS:C0155888 {source="MEDGEN:510125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017853 {source="DOID:2314", source="MONDO:Redundant"} ! hypersensitivity pneumonitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0017853 ! hypersensitivity pneumonitis
intersection_of: disease_has_infectious_agent NCBITaxon:5052 ! Aspergillus

[Term]
id: MONDO:0002267
name: obstructive lung disease
def: "Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent." [MESH:D008173]
synonym: "respiratory airway obstruction" EXACT [DOID:2320]
xref: DOID:2320 {source="MONDO:equivalentTo"}
xref: MEDGEN:1387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008173 {source="DOID:2320", source="MONDO:equivalentTo"}
xref: UMLS:C0001883 {source="MONDO:equivalentTo", source="MEDGEN:1387", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 {source="DOID:2320", source="MESH:D008173"} ! lung disorder

[Term]
id: MONDO:0002268
name: dyspepsia
def: "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease." [NCIT:C26756]
subset: otar {source="MONDO:OTAR"}
synonym: "dyspepsia, indigestion" EXACT [DOID:2321]
synonym: "dyspepsia, indigestion NOS" RELATED EXCLUDE [DOID:2321]
synonym: "indigestion" EXACT [DOID:2321]
xref: DOID:2321 {source="MONDO:equivalentObsolete"}
xref: EFO:0008533 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K30 {source="DOID:2321"}
xref: ICD10CM:R10.13 {source="DOID:2321"}
xref: MEDGEN:41681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004415 {source="DOID:2321", source="MONDO:equivalentTo"}
xref: NCIT:C26756 {source="DOID:2321", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: SCTID:139299007 {source="DOID:2321"}
xref: SCTID:155722007 {source="DOID:2321"}
xref: SCTID:162031009 {source="DOID:2321"}
xref: SCTID:196752002 {source="DOID:2321"}
xref: SCTID:249510006 {source="DOID:2321"}
xref: SCTID:266505001 {source="DOID:2321"}
xref: SCTID:87548005 {source="DOID:2321"}
xref: UMLS:C0013395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41681"}
is_a: MONDO:0001318 {source="DOID:2321"} ! functional gastric disease

[Term]
id: MONDO:0002269
name: gastroenteritis
def: "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting." [NCIT:C34632]
subset: otar {source="MONDO:OTAR"}
synonym: "cholera morbus" EXACT [DOID:2326]
synonym: "infectious colitis, enteritis and gastroenteritis" NARROW [DOID:2326]
synonym: "inflammation of intestine" EXACT []
synonym: "intestine inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2326 {source="MONDO:equivalentTo"}
xref: EFO:1001463 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K50-K52 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K52.9 {source="DOID:2326"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005759 {source="MONDO:equivalentTo", source="DOID:2326"}
xref: NCIT:C34632 {source="MONDO:equivalentTo", source="DOID:2326"}
xref: SCTID:154278002 {source="DOID:2326"}
xref: SCTID:197010007 {source="DOID:2326"}
xref: SCTID:25374005 {source="MONDO:equivalentTo", source="DOID:2326"}
xref: SCTID:266179001 {source="DOID:2326"}
xref: UMLS:C0017160 {source="MEDGEN:8967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="DOID:2326", source="EFO:1001463", source="MESH:D005759", source="MONDO:Redundant", source="NCIT:C34632/inferred"} ! digestive system disorder
is_a: MONDO:0005020 {source="MONDO:Redundant"} ! intestinal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C34632/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000160 ! intestine
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery

[Term]
id: MONDO:0002270
name: viral gastritis
def: "Inflammation of the stomach resulting from viral infection." [NCIT:C27184]
synonym: "viral gastritis" EXACT [NCIT:C27184]
synonym: "Viruses caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses gastritis (disease)" EXACT []
xref: DOID:2327 {source="MONDO:equivalentTo"}
xref: ICD9:008.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:107873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27184 {source="MONDO:equivalentTo", source="DOID:2327"}
xref: SCTID:285344007 {source="MONDO:equivalentTo", source="DOID:2327"}
xref: UMLS:C0563238 {source="MEDGEN:107873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004966 {source="DOID:2327", source="MONDO:Redundant", source="NCIT:C27184"} ! gastritis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach

[Term]
id: MONDO:0002271
name: colon adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the colon" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma - colon" EXACT [NCIT:C4349]
synonym: "adenocarcinoma of colon" EXACT [DOID:234, NCIT:C4349]
synonym: "adenocarcinoma of the colon" EXACT [DOID:234, NCIT:C4349]
synonym: "COAD" RELATED ABBREVIATION [ONCOTREE:COAD]
synonym: "colon adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4349]
synonym: "colonic adenocarcinoma" EXACT [DOID:234, NCIT:C4349]
xref: DOID:234 {source="MONDO:equivalentTo"}
xref: EFO:1001949 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:137834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4349 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:234"}
xref: ONCOTREE:COAD {source="MONDO:equivalentTo"}
xref: SCTID:255082000 {source="DOID:234"}
xref: UMLS:C0338106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137834"}
is_a: MONDO:0002032 {source="DOID:234", source="EFO:1001949", source="MONDO:Redundant", source="NCIT:C4349"} ! colon carcinoma
is_a: MONDO:0005008 {source="DOID:234", source="EFO:1001949", source="MONDO:Redundant", source="NCIT:C4349", source="ONCOTREE:COAD"} ! colorectal adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0002272
name: polyclonal hypergammaglobulinemia
def: "A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines." [NCIT:C35885]
comment: Editor note: check HP:0003459 Polyclonal elevation of IgM
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "polyclonal hypergammaglobulinemia" EXACT [DOID:2344, NCIT:C35885]
xref: DOID:2344 {source="MONDO:equivalentTo"}
xref: ICD10CM:D89.0 {source="DOID:2344", source="MONDO:equivalentTo"}
xref: ICD9:273.0 {source="DOID:2344", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35885 {source="DOID:2344", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: SCTID:190808009 {source="DOID:2344", source="MONDO:equivalentTo"}
xref: SCTID:190811005 {source="DOID:2344"}
xref: UMLS:C0154254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56337"}
is_a: MONDO:0002273 {source="DOID:2344"} ! plasma protein metabolism disease

[Term]
id: MONDO:0002273
name: plasma protein metabolism disease
def: "An inherited metabolic disorder that involves plasma protein metabolism malfunction." [DOID:2345, http://en.wikipedia.org/wiki/Blood_protein]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:2345 {source="MONDO:equivalentTo"}
xref: ICD9:273.8 {source="DOID:2345"}
xref: MEDGEN:840208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190822009 {source="DOID:2345"}
xref: SCTID:190825006 {source="DOID:2345"}
xref: UMLS:C3875058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:840208"}
is_a: MONDO:0019052 {source="DOID:2345"} ! inborn errors of metabolism

[Term]
id: MONDO:0002274
name: monoclonal paraproteinemia disease
def: "A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma." [Wikipedia:Paraproteinemia]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "monoclonal paraproteinaemia" EXACT [DOID:2346]
synonym: "monoclonal paraproteinemia" EXACT [DOID:2346, NCIT:C35878]
synonym: "paraproteinaemia" EXACT [Wikipedia:Paraproteinemia]
xref: DOID:2346 {source="MONDO:equivalentTo"}
xref: HP:0031047 {source="MONDO:otherHierarchy"}
xref: ICD9:273.1 {source="MONDO:equivalentTo", source="DOID:2346", source="MONDO:i2s"}
xref: MEDGEN:10088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35878 {source="MONDO:equivalentObsolete", source="MONDO:otherHierarchy", source="DOID:2346", source="MONDO:exact-label-match"}
xref: SCTID:190812003 {source="DOID:2346"}
xref: SCTID:267440005 {source="MONDO:equivalentTo", source="DOID:2346"}
xref: UMLS:C0026471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10088"}
is_a: MONDO:0002273 {source="DOID:2346"} ! plasma protein metabolism disease
is_a: MONDO:0004960 {source="https://orcid.org/0000-0001-5208-3432"} ! monoclonal gammopathy

[Term]
id: MONDO:0002275
name: generalized atherosclerosis
def: "Atherosclerosis that is not localized." [NCIT:P378]
synonym: "generalised and unspecified atherosclerosis" EXACT OMO:0003005 []
synonym: "generalized and unspecified atherosclerosis" EXACT [DOID:2347, ICD9CM:440.9]
synonym: "generalized atherosclerosis" EXACT [DOID:2347]
xref: DOID:2347 {source="MONDO:equivalentTo"}
xref: ICD10CM:I70.91 {source="DOID:2347", source="MONDO:equivalentTo"}
xref: ICD9:440.9 {source="DOID:2347", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35767 {source="DOID:2347", source="MONDO:equivalentTo"}
xref: SCTID:367108003 {source="DOID:2347"}
xref: SCTID:39823006 {source="DOID:2347", source="MONDO:equivalentTo"}
xref: UMLS:C0017327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4866"}
is_a: MONDO:0005311 {source="DOID:2347", source="ICD10CM:I70.91", source="ICD10CM:I70.91/inferred", source="NCIT:C35767"} ! atherosclerosis

[Term]
id: MONDO:0002276
name: obsolete arteriosclerotic cardiovascular disease
is_obsolete: true
replaced_by: MONDO:0002277

[Term]
id: MONDO:0002277
name: arteriosclerosis disorder
def: "A vascular disorder characterized by thickening and hardening of the walls of the arteries." [NCIT:C34398]
subset: otar {source="MONDO:OTAR"}
synonym: "arterial sclerosis" EXACT [NCIT:C34398]
synonym: "arteriosclerosis" EXACT [MONDO:ambiguous]
synonym: "arteriosclerosis NOS" RELATED EXCLUDE [DOID:2349]
synonym: "arteriosclerotic cardiovascular disease" EXACT [DOID:2348, MONDO:0002276, NCIT:C34403]
synonym: "arteriosclerotic cardiovascular disease, NOS" RELATED EXCLUDE [DOID:2348]
synonym: "arteriosclerotic vascular disease" EXACT []
synonym: "arteriosclerotic vascular disease NOS" RELATED EXCLUDE [DOID:2349]
synonym: "cardiovascular arteriosclerosis" EXACT [DOID:2348]
synonym: "vascular sclerosis" EXACT [NCIT:C34398]
xref: CSP:0571-2299 {source="DOID:2349"}
xref: DOID:2348 {source="MONDO:equivalentTo"}
xref: DOID:2349 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: HP:0002634 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I25.1 {source="DOID:2348"}
xref: ICD10CM:I70 {source="DOID:2349", source="DOID:2348"}
xref: ICD9:440 {source="DOID:2348"}
xref: MEDGEN:2076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001161 {source="MONDO:equivalentTo", source="DOID:2349"}
xref: MESH:D050197 {source="DOID:2348"}
xref: NCIT:C34398 {source="MONDO:equivalentTo", source="DOID:2349"}
xref: NCIT:C34403 {source="MONDO:equivalentTo", source="DOID:2348"}
xref: NCIT:C35768 {source="DOID:2348"}
xref: NCIT:C35771 {source="DOID:2348"}
xref: SCTID:107671003 {source="DOID:2349"}
xref: SCTID:155382007 {source="DOID:2348"}
xref: SCTID:155414001 {source="DOID:2349", source="DOID:2348"}
xref: SCTID:155418003 {source="DOID:2349"}
xref: SCTID:194848007 {source="DOID:2348"}
xref: SCTID:195121002 {source="DOID:2348"}
xref: SCTID:195251000 {source="DOID:2349", source="DOID:2348"}
xref: SCTID:195257001 {source="DOID:2349"}
xref: SCTID:266318005 {source="DOID:2349", source="DOID:2348"}
xref: SCTID:28960008 {source="DOID:2349"}
xref: SCTID:38716007 {source="DOID:2348"}
xref: SCTID:39468009 {source="DOID:2348"}
xref: SCTID:72092001 {source="MONDO:equivalentTo", source="DOID:2349"}
xref: UMLS:C0003850 {source="MEDGEN:2076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="DOID:2348/inferred", source="DOID:2349", source="NCIT:C34398"} ! arterial disorder

[Term]
id: MONDO:0002278
name: benign colon neoplasm
alt_id: MONDO:0021466
def: "A non-metastasizing neoplasm arising from the wall of the colon." [NCIT:C2894]
subset: otar {source="MONDO:OTAR"}
synonym: "benign colon neoplasm" EXACT [NCIT:C2894]
synonym: "benign colon tumor" EXACT [NCIT:C2894]
synonym: "benign colon tumour" EXACT OMO:0003005 []
synonym: "benign colonic neoplasm" EXACT [NCIT:C2894]
synonym: "benign colonic tumor" EXACT [NCIT:C2894]
synonym: "benign colonic tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of colon" EXACT [NCIT:C2894]
synonym: "benign neoplasm of the colon" EXACT [NCIT:C2894]
synonym: "benign tumor of colon" EXACT [NCIT:C2894]
synonym: "benign tumor of the colon" EXACT [NCIT:C2894]
synonym: "benign tumour of colon" EXACT OMO:0003005 []
synonym: "benign tumour of the colon" EXACT OMO:0003005 []
synonym: "colon benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "colon neoplasm" BROAD [DOID:235]
synonym: "colonic benign neoplasm" RELATED [DOID:235]
synonym: "colonic Mass" EXACT [DOID:235, NCIT:C37904]
synonym: "colonic tumor" BROAD [DOID:235, NCIT:C2953]
synonym: "colonic tumour" BROAD OMO:0003005 []
synonym: "neoplasm of colon" RELATED EXCLUDE [DOID:235]
xref: DOID:235 {source="MONDO:equivalentTo"}
xref: ICD9:211.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003110 {source="DOID:235"}
xref: NCIT:C2894 {source="MONDO:equivalentTo"}
xref: NCIT:C2953 {source="DOID:235"}
xref: SCTID:126838000 {source="DOID:235"}
xref: SCTID:92065004 {source="MONDO:equivalentTo"}
xref: UMLS:C0004991 {source="MEDGEN:525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003062 {source="DOID:235", source="MONDO:Redundant", source="NCIT:C2894/inferred"} ! intestinal benign neoplasm
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C2894"} ! colonic neoplasm
is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C2894"} ! benign neoplasm of large intestine
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0002279
name: iron metabolism disease
def: "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization." [MESH:D019189]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of iron metabolism" EXACT [DOID:2351, ICD9CM:275.0]
synonym: "disorder, iron metabolism" RELATED [MESH:D019189]
synonym: "disorders, iron metabolism" RELATED [MESH:D019189]
synonym: "iron disorder" EXACT [DOID:2351]
synonym: "iron metabolism disorder" RELATED [MESH:D019189]
synonym: "metabolism disorder, iron" RELATED [MESH:D019189]
synonym: "metabolism disorders, iron" RELATED [MESH:D019189]
xref: DOID:2351 {source="MONDO:equivalentTo"}
xref: ICD10CM:E83.1 {source="DOID:2351", source="MONDO:equivalentTo"}
xref: ICD10CM:E83.10 {source="DOID:2351"}
xref: ICD9:275.0 {source="DOID:2351", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:8438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019189 {source="DOID:2351", source="MONDO:equivalentTo"}
xref: SCTID:154751003 {source="DOID:2351"}
xref: SCTID:190851008 {source="DOID:2351"}
xref: SCTID:267504005 {source="DOID:2351"}
xref: SCTID:30913008 {source="DOID:2351", source="MONDO:equivalentTo"}
xref: UMLS:C0012715 {source="MONDO:equivalentTo", source="MEDGEN:8438", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 {source="DOID:2351", source="ICD10CM:E83.1"} ! mineral metabolism disease
is_a: MONDO:0005066 {source="DOID:2351/inferred", source="ICD10CM:E83.1/inferred", source="MESH:D019189", source="MONDO:Redundant"} ! metabolic disease

[Term]
id: MONDO:0002280
name: anemia
def: "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." [NCIT:C2869]
subset: otar {source="MONDO:OTAR"}
synonym: "anaemia (disease)" EXACT OMO:0003005 []
synonym: "anemia" EXACT [DOID:2355, MONDO:ambiguous, NCIT:C2869]
synonym: "anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2355 {source="MONDO:equivalentTo"}
xref: HP:0001903 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D50-D53 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D64.9 {source="DOID:2355"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:285.9 {source="DOID:2355", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000740 {source="DOID:2355", source="MONDO:equivalentTo"}
xref: NCIT:C2869 {source="DOID:2355", source="MONDO:equivalentTo"}
xref: SCTID:154786001 {source="DOID:2355"}
xref: SCTID:154812000 {source="DOID:2355"}
xref: SCTID:191277004 {source="DOID:2355"}
xref: SCTID:267531008 {source="DOID:2355"}
xref: SCTID:271737000 {source="DOID:2355", source="MONDO:equivalentTo"}
xref: SCTID:64593003 {source="DOID:2355"}
xref: UMLS:C0002871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1526"}
is_a: MONDO:0005570 {source="DOID:2355", source="MESH:D000740", source="NCIT:C2869/inferred"} ! hematologic disorder
relationship: disease_has_basis_in_disruption_of GO:0034101 ! erythrocyte homeostasis
property_value: IAO:0000589 "anemia (disease)" xsd:string

[Term]
id: MONDO:0002281
name: macrocytic anemia
def: "Anemia that is characterized by increased red blood cell volume." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "anaemia macrocytic" EXACT OMO:0003005 []
synonym: "anemia macrocytic" EXACT [DOID:2361, MTH:NOCODE]
synonym: "D22S676" EXACT ABBREVIATION [Orphanet:119999]
synonym: "D22S750" EXACT ABBREVIATION [Orphanet:119999]
synonym: "macrocytic Anaemia" EXACT OMO:0003005 []
synonym: "macrocytic anaemia (disease)" EXACT OMO:0003005 []
synonym: "macrocytic anaemia of unspecified cause" EXACT OMO:0003005 []
synonym: "macrocytic Anemia" EXACT [DOID:2361, NCIT:C34381]
synonym: "macrocytic anemia" EXACT [DOID:2361, MONDO:ambiguous]
synonym: "macrocytic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "macrocytic anemia of unspecified cause" EXACT [DOID:2361]
xref: DOID:2361 {source="MONDO:equivalentTo"}
xref: HP:0001972 {source="MONDO:otherHierarchy"}
xref: MEDGEN:1920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000748 {source="MONDO:equivalentTo", source="DOID:2361"}
xref: NCIT:C34381 {source="MONDO:equivalentTo", source="DOID:2361"}
xref: SCTID:191151004 {source="DOID:2361"}
xref: SCTID:191277004 {source="DOID:2361"}
xref: SCTID:234356001 {source="DOID:2361"}
xref: SCTID:83414005 {source="MONDO:equivalentTo", source="DOID:2361"}
xref: UMLS:C0002886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1920"}
is_a: MONDO:0002280 {source="DOID:2361", source="MESH:D000748", source="NCIT:C34381"} ! anemia
property_value: IAO:0000589 "macrocytic anemia (disease)" xsd:string

[Term]
id: MONDO:0002282
name: West Nile fever
def: "A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)" [MESH:D014901]
subset: otar {source="MONDO:OTAR"}
synonym: "West Nile virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "West Nile virus disease or disorder" EXACT []
synonym: "West Nile virus infectious disease" EXACT []
xref: DOID:2366 {source="MONDO:equivalentTo"}
xref: ICD10CM:A92.3 {source="DOID:2366"}
xref: ICD10CM:A92.30 {source="DOID:2366"}
xref: ICD9:066.4 {source="DOID:2366"}
xref: ICD9:066.40 {source="DOID:2366"}
xref: MEDGEN:22705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014901 {source="DOID:2366", source="MONDO:equivalentTo"}
xref: SCTID:12381007 {source="DOID:2366"}
xref: SCTID:417093003 {source="DOID:2366", source="MONDO:equivalentTo"}
xref: UMLS:C0043124 {source="MEDGEN:22705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:2366", source="MESH:D014901/inferred", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11082 ! disease has primary infectious agent West Nile virus
relationship: disease_has_infectious_agent NCBITaxon:11082 {source="MONDO:Wikidata"} ! West Nile virus
relationship: transmitted_by NCBITaxon:7174 ! Culex <genus>

[Term]
id: MONDO:0002283
name: neuroaxonal dystrophy
def: "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)" [MESH:D019150]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2367 {source="MONDO:equivalentTo"}
xref: MEDGEN:90924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019150 {source="DOID:2367", source="MONDO:equivalentTo"}
xref: NCIT:C161542 {source="MONDO:equivalentTo"}
xref: SCTID:230365004 {source="DOID:2367", source="MONDO:equivalentTo"}
xref: UMLS:C0338473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90924"}
is_a: MONDO:0005559 {source="DOID:2367"} ! neurodegenerative disease

[Term]
id: MONDO:0002284
name: obsolete gangliosidosis
is_obsolete: true
replaced_by: MONDO:0017719

[Term]
id: MONDO:0002285
name: pupil disorder
def: "A disease involving the pupil." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of pupil" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pupil" EXACT []
synonym: "disorder of pupil" EXACT [MONDO:patterns/location_top]
synonym: "pupil disease" EXACT [MONDO:patterns/location]
synonym: "pupil disease or disorder" EXACT [MONDO:patterns/location]
synonym: "pupillary disorder" EXACT [DOID:238]
xref: DOID:238 {source="MONDO:equivalentTo"}
xref: MEDGEN:11038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011681 {source="DOID:238"}
xref: SCTID:68633000 {source="DOID:238", source="MONDO:equivalentTo"}
xref: UMLS:C0034124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11038"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001771 ! pupil

[Term]
id: MONDO:0002286
name: renal artery disease
def: "A disease involving the renal artery." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "renal vascular disease" EXACT [DOID:2388]
synonym: "vascular disorder of kidney" EXACT [DOID:2388, ICD9CM:593.81]
xref: DOID:2388 {source="MONDO:equivalentTo"}
xref: ICD9:593.81 {source="DOID:2388", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:768693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C101254 {source="MONDO:equivalentTo"}
xref: NCIT:C35338 {source="DOID:2388"}
xref: SCTID:16934004 {source="DOID:2388", source="MONDO:equivalentTo"}
xref: SCTID:197814004 {source="DOID:2388"}
xref: SCTID:266559003 {source="DOID:2388"}
xref: UMLS:C3640053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:768693"}
is_a: MONDO:0005240 {source="DOID:2388", source="MONDO:Redundant"} ! kidney disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001184 ! renal artery
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0002287
name: glandular cystitis
def: "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells." [NCIT:P378]
synonym: "cystitis glandularis" RELATED [DOID:2392]
xref: DOID:2392 {source="MONDO:equivalentTo"}
xref: ICD9:595.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39860 {source="MONDO:equivalentTo", source="DOID:2392"}
xref: SCTID:72815004 {source="MONDO:equivalentTo", source="DOID:2392"}
xref: UMLS:C0268837 {source="MEDGEN:82830", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006030 {source="DOID:2392", source="NCIT:C39860/inferred"} ! chronic cystitis

[Term]
id: MONDO:0002288
name: obsolete ovarian cancer
is_obsolete: true
replaced_by: MONDO:0016245

[Term]
id: MONDO:0002289
name: iris disorder
def: "A disease involving the iris." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of iris" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of iris" EXACT []
synonym: "disorder of iris" EXACT [MONDO:patterns/location_top]
synonym: "iris disease" EXACT [MONDO:patterns/location]
synonym: "iris disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "iris disorder" EXACT [NCIT:C34737]
xref: DOID:240 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15-H22 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:9556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007499 {source="MONDO:equivalentTo", source="DOID:240"}
xref: NCIT:C34737 {source="MONDO:equivalentTo", source="DOID:240"}
xref: SCTID:155116005 {source="DOID:240"}
xref: SCTID:267719008 {source="DOID:240"}
xref: SCTID:85478004 {source="MONDO:equivalentTo", source="DOID:240"}
xref: UMLS:C0022078 {source="MEDGEN:9556", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002661 {source="DOID:240", source="MESH:D007499", source="MONDO:Redundant", source="NCIT:C34737"} ! uveal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001769 ! iris

[Term]
id: MONDO:0002290
name: clitoris cancer
def: "A malignant neoplasm that affects the clitoris." [NCIT:C3557]
synonym: "cancer of clitoris" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of clitoris" NARROW [DOID:2401, NCIT:C9362]
synonym: "clitoral Ca" EXACT [DOID:2401, SCTID:93758009]
synonym: "clitoral cancer" RELATED EXCLUDE [DOID:2401]
synonym: "clitoris cancer" EXACT [MONDO:patterns/location]
synonym: "malignant clitoral neoplasm" EXACT [NCIT:C3557]
synonym: "malignant clitoral tumor" EXACT [NCIT:C3557]
synonym: "malignant clitoral tumour" EXACT OMO:0003005 []
synonym: "malignant clitoris neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3557]
synonym: "malignant clitoris tumor" EXACT [NCIT:C3557]
synonym: "malignant clitoris tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of clitoris" EXACT [MONDO:patterns/cancer, NCIT:C3557]
synonym: "malignant neoplasm of the clitoris" EXACT [NCIT:C3557]
synonym: "malignant tumor of clitoris" EXACT [DOID:2401, NCIT:C3557]
synonym: "malignant tumor of the clitoris" EXACT [NCIT:C3557]
synonym: "malignant tumour of clitoris" EXACT OMO:0003005 []
synonym: "malignant tumour of the clitoris" EXACT OMO:0003005 []
xref: DOID:2401 {source="MONDO:equivalentTo"}
xref: ICD10CM:C51.2 {source="DOID:2401"}
xref: ICD9:184.3 {source="MONDO:equivalentTo", source="DOID:2401", source="MONDO:i2s"}
xref: MEDGEN:56312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3557 {source="MONDO:equivalentTo", source="DOID:2401"}
xref: NCIT:C9362 {source="DOID:2401"}
xref: SCTID:154535008 {source="DOID:2401"}
xref: SCTID:188213003 {source="DOID:2401"}
xref: SCTID:269604005 {source="DOID:2401"}
xref: SCTID:371979001 {source="MONDO:equivalentTo", source="DOID:2401"}
xref: SCTID:93758009 {source="DOID:2401"}
xref: UMLS:C0153589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56312"}
is_a: MONDO:0001528 {source="DOID:2401", source="MONDO:Redundant", source="NCIT:C3557"} ! vulva cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002411 ! clitoris

[Term]
id: MONDO:0002291
name: cutaneous granular cell tumor
def: "A granular cell tumor that involves the zone of skin." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous granular cell neoplasm" EXACT [NCIT:C5617]
synonym: "cutaneous granular cell tumor" EXACT [NCIT:C5617]
synonym: "granular cell neoplasm of skin" EXACT [NCIT:C5617]
synonym: "granular cell neoplasm of the skin" EXACT [DOID:2410, NCIT:C5617]
synonym: "granular cell skin tumor" EXACT [NCIT:C5617]
synonym: "granular cell skin tumour" EXACT OMO:0003005 []
synonym: "granular cell tumor of skin" EXACT [NCIT:C5617]
synonym: "granular cell tumor of the skin" EXACT [NCIT:C5617]
synonym: "granular cell tumor of zone of skin" EXACT [MONDO:design_pattern]
synonym: "granular cell tumour of skin" EXACT OMO:0003005 []
synonym: "granular cell tumour of the skin" EXACT OMO:0003005 []
synonym: "granular cell tumour of zone of skin" EXACT OMO:0003005 []
synonym: "skin granular cell neoplasm" EXACT [NCIT:C5617]
synonym: "skin granular cell tumor" RELATED [DOID:2410]
synonym: "skin granular cell tumour" RELATED OMO:0003005 []
synonym: "zone of skin granular cell tumor" EXACT [MONDO:patterns/location]
synonym: "zone of skin granular cell tumour" EXACT OMO:0003005 []
xref: DOID:2410 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5617 {source="DOID:2410", source="MONDO:equivalentTo"}
xref: SCTID:254763007 {source="DOID:2410", source="MONDO:equivalentTo"}
xref: UMLS:C0346060 {source="MEDGEN:138035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002300 {source="NCIT:C5617"} ! dermis tumor
is_a: MONDO:0006235 {source="DOID:2410", source="MONDO:Redundant", source="NCIT:C5617"} ! granular cell tumor
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002292
name: obsolete granular cell tumor
is_obsolete: true
replaced_by: MONDO:0006235

[Term]
id: MONDO:0002293
name: cutaneous ganglioneuroma
def: "A ganglioneuroma arising from the skin." [NCIT:C4481]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous ganglioneuroma" EXACT [DOID:2425, NCIT:C4481]
synonym: "ganglioneuroma of skin" EXACT [NCIT:C4481]
synonym: "ganglioneuroma of the skin" EXACT [NCIT:C4481]
synonym: "skin ganglioneuroma" EXACT [NCIT:C4481]
xref: DOID:2425 {source="MONDO:equivalentTo"}
xref: MEDGEN:91077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4481 {source="MONDO:equivalentTo", source="DOID:2425", source="MONDO:exact-label-match"}
xref: SCTID:254766004 {source="MONDO:equivalentTo", source="DOID:2425"}
xref: UMLS:C0346063 {source="MEDGEN:91077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002531 {source="DOID:2425", source="MONDO:Entailed", source="NCIT:C4481/inferred"} ! skin neoplasm
is_a: MONDO:0005033 {source="NCIT:C4481"} ! ganglioneuroma

[Term]
id: MONDO:0002294
name: obsolete gangliocytoma
is_obsolete: true
replaced_by: MONDO:0016730

[Term]
id: MONDO:0002295
name: skin glomus tumor
def: "A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glomus neoplasm of skin" EXACT [NCIT:C4491]
synonym: "glomus neoplasm of the skin" EXACT [NCIT:C4491]
synonym: "glomus skin neoplasm" EXACT [DOID:2430, NCIT:C4491]
synonym: "glomus skin tumor" EXACT [NCIT:C4491]
synonym: "glomus skin tumour" EXACT OMO:0003005 []
synonym: "glomus tumor of skin" EXACT [NCIT:C4491]
synonym: "glomus tumor of the skin" EXACT [NCIT:C4491]
synonym: "glomus tumour of skin" EXACT OMO:0003005 []
synonym: "glomus tumour of the skin" EXACT OMO:0003005 []
synonym: "skin glomus neoplasm" EXACT [NCIT:C4491]
synonym: "zone of skin glomus tumor" EXACT [MONDO:patterns/location]
synonym: "zone of skin glomus tumour" EXACT OMO:0003005 []
xref: DOID:2430 {source="MONDO:equivalentTo"}
xref: MEDGEN:87537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4491 {source="DOID:2430", source="MONDO:equivalentTo"}
xref: SCTID:254795008 {source="DOID:2430", source="MONDO:equivalentTo"}
xref: UMLS:C0346083 {source="MEDGEN:87537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002300 {source="MONDO:Redundant", source="NCIT:C4491"} ! dermis tumor
is_a: MONDO:0018327 {source="DOID:2430", source="MONDO:Redundant", source="NCIT:C4491"} ! glomus tumor
intersection_of: MONDO:0018327 ! glomus tumor
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
relationship: excluded_subClassOf MONDO:0002898 {source="DOID:2430", source="https://orcid.org/0000-0001-5208-3432"} ! skin cancer

[Term]
id: MONDO:0002296
name: obsolete glomus tumor
is_obsolete: true
replaced_by: MONDO:0018327

[Term]
id: MONDO:0002297
name: epidermal appendage tumor
def: "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adnexal neoplasm of skin" EXACT [NCIT:C4463]
synonym: "adnexal neoplasm of the skin" EXACT [NCIT:C4463]
synonym: "adnexal tumor of skin" EXACT [NCIT:C4463]
synonym: "adnexal tumor of the skin" EXACT [NCIT:C4463]
synonym: "adnexal tumour of skin" EXACT OMO:0003005 []
synonym: "adnexal tumour of the skin" EXACT OMO:0003005 []
synonym: "cutaneous adnexal neoplasm" EXACT [NCIT:C4463]
synonym: "cutaneous appendage neoplasm" EXACT []
synonym: "cutaneous appendage neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cutaneous appendage tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cutaneous appendage tumour" EXACT OMO:0003005 []
synonym: "Epidermal appendage neoplasm" EXACT [NCIT:C4463]
synonym: "Epidermal appendage tumor" EXACT [NCIT:C4463]
synonym: "Epidermal appendage tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cutaneous appendage" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of Epidermal appendage" EXACT [NCIT:C4463]
synonym: "neoplasm of skin appendage" EXACT [NCIT:C4463]
synonym: "neoplasm of skin with adnexal differentiation" EXACT [DOID:2433]
synonym: "neoplasm of the skin appendage" EXACT [DOID:2433, NCIT:C4463]
synonym: "skin appendage neoplasm" EXACT [NCIT:C4463]
synonym: "skin appendage tumor" EXACT [DOID:2433, NCIT:C4463]
synonym: "skin appendage tumour" EXACT OMO:0003005 []
synonym: "tumor of cutaneous appendage" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of Epidermal appendage" EXACT [NCIT:C4463]
synonym: "tumor of skin appendage" EXACT [NCIT:C4463]
synonym: "tumor of the skin appendage" EXACT [NCIT:C4463]
synonym: "tumour of cutaneous appendage" EXACT OMO:0003005 []
synonym: "tumour of Epidermal appendage" EXACT OMO:0003005 []
synonym: "tumour of skin appendage" EXACT OMO:0003005 []
synonym: "tumour of the skin appendage" EXACT OMO:0003005 []
xref: DOID:2433 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4463 {source="DOID:2433", source="MONDO:equivalentTo"}
xref: SCTID:126489007 {source="DOID:2433", source="MONDO:equivalentTo"}
xref: SCTID:55681005 {source="DOID:2433"}
xref: UMLS:C0345988 {source="MEDGEN:87527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002531 {source="DOID:2433", source="NCIT:C4463"} ! skin neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000021 ! cutaneous appendage

[Term]
id: MONDO:0002298
name: cutaneous glomangioma
def: "A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells." [NCIT:C6750]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous glomangioma" EXACT [DOID:2435, NCIT:C6750]
synonym: "glomangioma of skin" EXACT [NCIT:C6750]
synonym: "glomangioma of the skin" EXACT [NCIT:C6750]
synonym: "skin glomangioma" EXACT [NCIT:C6750]
synonym: "zone of skin glomangioma" EXACT [MONDO:patterns/location]
xref: DOID:2435 {source="MONDO:equivalentTo"}
xref: MEDGEN:266155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6750 {source="DOID:2435", source="MONDO:equivalentTo"}
xref: SCTID:403970001 {source="DOID:2435", source="MONDO:equivalentTo"}
xref: UMLS:C1275226 {source="MEDGEN:266155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002295 {source="MONDO:Redundant", source="NCIT:C6750"} ! skin glomus tumor
is_a: MONDO:0002299 {source="DOID:2435", source="MONDO:Redundant", source="NCIT:C6750"} ! glomangioma
intersection_of: MONDO:0002299 ! glomangioma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0002299
name: glomangioma
def: "A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions." [NCIT:C4222]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glomangioma" EXACT [NCIT:C4222]
xref: DOID:2436 {source="MONDO:equivalentTo"}
xref: ICDO:8712/0 {source="NCIT:C4222"}
xref: MEDGEN:87239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005918 {source="DOID:2436"}
xref: NCIT:C4222 {source="MONDO:equivalentTo", source="DOID:2436", source="MONDO:exact-label-match"}
xref: SCTID:7429002 {source="DOID:2436"}
xref: UMLS:C0334421 {source="MEDGEN:87239", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018327 {source="NCIT:C4222"} ! glomus tumor

[Term]
id: MONDO:0002300
name: dermis tumor
def: "A benign, intermediate, or malignant neoplasm that arises from the dermis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dermal neoplasm" EXACT [NCIT:C4475]
synonym: "dermal tumor" EXACT [NCIT:C4475]
synonym: "dermal tumour" EXACT OMO:0003005 []
synonym: "dermis neoplasm" EXACT []
synonym: "dermis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "dermis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475]
synonym: "neoplasm of the dermis" EXACT [NCIT:C4475]
synonym: "tumor of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475]
synonym: "tumor of the dermis" EXACT [NCIT:C4475]
synonym: "tumour of dermis" EXACT OMO:0003005 []
synonym: "tumour of the dermis" EXACT OMO:0003005 []
xref: DOID:2438 {source="MONDO:equivalentTo"}
xref: MEDGEN:91075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4475 {source="MONDO:equivalentTo", source="DOID:2438"}
xref: SCTID:254735005 {source="DOID:2438"}
xref: UMLS:C0346041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91075"}
is_a: MONDO:0002531 {source="DOID:2438", source="NCIT:C4475"} ! skin neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002067 ! dermis

[Term]
id: MONDO:0002301
name: frontal sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epidermoid carcinoma of frontal sinus" EXACT [NCIT:C6067]
synonym: "epidermoid carcinoma of the frontal sinus" EXACT [DOID:2441, NCIT:C6067]
synonym: "frontal sinus epidermoid carcinoma" EXACT [NCIT:C6067]
synonym: "frontal sinus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of frontal sinus" EXACT [NCIT:C6067]
synonym: "squamous cell carcinoma of the frontal sinus" EXACT [NCIT:C6067]
xref: DOID:2441 {source="MONDO:equivalentTo"}
xref: MEDGEN:272639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6067 {source="DOID:2441", source="MONDO:equivalentTo"}
xref: SCTID:707356001 {source="MONDO:equivalentTo"}
xref: UMLS:C1333646 {source="MEDGEN:272639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001756 {source="DOID:2441", source="MONDO:Redundant", source="NCIT:C6067"} ! frontal sinus cancer
is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6067/inferred"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001760 ! frontal sinus

[Term]
id: MONDO:0002302
name: obsolete acromegaly
is_obsolete: true
replaced_by: MONDO:0019933

[Term]
id: MONDO:0002303
name: central retinal vein occlusion
def: "Blockage of the central retinal vein." [NCIT:P378]
subset: gard_rare {source="GARD:21734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411527"}
subset: orphanet_rare {source="Orphanet:411527"}
subset: rare
synonym: "central retinal vein retinal vein occlusion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "central retinal Venous occlusion" EXACT [NCIT:C118859]
synonym: "retinal vein occlusion of central retinal vein" EXACT [MONDO:design_pattern]
xref: DOID:2450 {source="MONDO:equivalentTo"}
xref: GARD:21734 {source="MONDO:GARD"}
xref: ICD10CM:H34.81 {source="DOID:2450"}
xref: ICD9:362.35 {source="DOID:2450", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118859 {source="DOID:2450", source="MONDO:equivalentTo"}
xref: Orphanet:411527 {source="MONDO:equivalentTo"}
xref: SCTID:193378003 {source="DOID:2450"}
xref: SCTID:68478007 {source="DOID:2450", source="MONDO:equivalentTo"}
xref: UMLS:C0154841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509679"}
is_a: MONDO:0006951 {source="DOID:2450", source="MONDO:Redundant", source="NCIT:C118859"} ! retinal vein occlusion
intersection_of: MONDO:0006951 ! retinal vein occlusion
intersection_of: disease_has_location UBERON:0001673 ! central retinal vein

[Term]
id: MONDO:0002304
name: protein S deficiency
def: "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot." [https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency]
comment: Editor note: TODO axiomatize
subset: gard_rare {source="GARD:4524", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Protein S deficiency" EXACT [DOID:2451]
synonym: "Protein S deficiency disease" EXACT [NCIT:C99026]
xref: DOID:2451 {source="MONDO:equivalentTo"}
xref: GARD:4524 {source="MONDO:GARD"}
xref: HGNC:9456 {source="GARD:0004524"}
xref: ICD10CM:D68.59 {source="DOID:2451"}
xref: ICD9:289.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:69229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018455 {source="DOID:2451", source="MONDO:equivalentTo"}
xref: NANDO:1201081 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100198 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200690 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99026 {source="DOID:2451", source="MONDO:equivalentTo"}
xref: SCTID:1563006 {source="DOID:2451", source="MONDO:equivalentTo"}
xref: UMLS:C0242666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:69229"}
is_a: MONDO:0002305 {source="DOID:2451", source="MESH:D018455", source="NCIT:C99026"} ! thrombophilia
relationship: disease_disrupts GO:0030195 ! negative regulation of blood coagulation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency" xsd:anyURI {source="GARD:0004524"}

[Term]
id: MONDO:0002305
name: thrombophilia
def: "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "excessive blood clotting" EXACT [NCIT:C84479]
synonym: "hypercoagulability" EXACT [NCIT:C84479]
synonym: "hypercoagulability state" EXACT [DOID:2452]
synonym: "hypercoagulable" EXACT [NCIT:C84479]
xref: DOID:2452 {source="MONDO:equivalentTo"}
xref: EFO:0009315 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D68.59 {source="DOID:2452"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019851 {source="DOID:2452", source="MONDO:equivalentTo"}
xref: NCIT:C84479 {source="DOID:2452", source="MONDO:equivalentTo"}
xref: Orphanet:64738 {source="MONDO:equivalentObsolete"}
xref: SCTID:191302007 {source="DOID:2452"}
xref: SCTID:234467004 {source="DOID:2452", source="MONDO:equivalentTo"}
xref: SCTID:76612001 {source="DOID:2452"}
xref: UMLS:C0398623 {source="MEDGEN:98306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001531 {source="DOID:2452", source="NCIT:C84479"} ! blood coagulation disease

[Term]
id: MONDO:0002306
name: angular blepharoconjunctivitis
def: "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." [DOID:2455, http://dro.hs.columbia.edu/angbleph.htm]
xref: DOID:2455 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.52 {source="DOID:2455"}
xref: ICD9:372.21 {source="DOID:2455", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193871000 {source="DOID:2455"}
xref: SCTID:69397000 {source="DOID:2455", source="MONDO:equivalentTo"}
xref: UMLS:C0155149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509810"}
is_a: MONDO:0002307 {source="DOID:2455"} ! blepharoconjunctivitis

[Term]
id: MONDO:0002307
name: blepharoconjunctivitis
def: "Inflammation of both the eyelids and the conjunctiva." [NCIT:P378]
xref: DOID:2456 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.5 {source="MONDO:equivalentTo", source="DOID:2456"}
xref: ICD10CM:H10.50 {source="DOID:2456"}
xref: ICD9:372.2 {source="DOID:2456"}
xref: ICD9:372.20 {source="MONDO:equivalentTo", source="DOID:2456", source="MONDO:i2s"}
xref: MEDGEN:2669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34430 {source="MONDO:equivalentTo", source="DOID:2456"}
xref: SCTID:155164001 {source="DOID:2456"}
xref: SCTID:193870004 {source="DOID:2456"}
xref: SCTID:193873002 {source="DOID:2456"}
xref: SCTID:68659002 {source="MONDO:equivalentTo", source="DOID:2456"}
xref: UMLS:C0005743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2669"}
is_a: MONDO:0003799 {source="MONDO:Redundant"} ! conjunctivitis
is_a: MONDO:0004785 {source="DOID:2456", source="MONDO:Redundant"} ! blepharitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001711 ! eyelid
intersection_of: disease_has_inflammation_site UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0002308
name: giant papillary conjunctivitis
def: "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva." [NCIT:P378]
synonym: "GPC" RELATED ABBREVIATION [GARD:0008445]
xref: DOID:2457 {source="MONDO:equivalentTo"}
xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003233 {source="DOID:2457"}
xref: NCIT:C34507 {source="DOID:2457", source="MONDO:equivalentTo"}
xref: SCTID:231857004 {source="DOID:2457", source="MONDO:equivalentTo"}
xref: UMLS:C0009769 {source="MEDGEN:3210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002307 {source="DOID:2457"} ! blepharoconjunctivitis
is_a: MONDO:0002309 {source="DOID:2457", source="NCIT:C34507"} ! papillary conjunctivitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8445/giant-papillary-conjunctivitis" xsd:anyURI {source="GARD:0008445"}

[Term]
id: MONDO:0002309
name: papillary conjunctivitis
def: "Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva." [NCIT:P378]
xref: DOID:2458 {source="MONDO:equivalentTo"}
xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:167698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35616 {source="MONDO:equivalentTo", source="DOID:2458"}
xref: SCTID:416878008 {source="MONDO:equivalentTo", source="DOID:2458"}
xref: UMLS:C0854165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167698"}
is_a: MONDO:0003799 {source="DOID:2458", source="NCIT:C35616"} ! conjunctivitis

[Term]
id: MONDO:0002310
name: anterior dislocation of lens
xref: DOID:2460 {source="MONDO:equivalentTo"}
xref: ICD10CM:H27.12 {source="DOID:2460"}
xref: ICD9:379.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2460"}
xref: MEDGEN:509941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194160006 {source="DOID:2460"}
xref: SCTID:37283009 {source="MONDO:equivalentTo", source="DOID:2460"}
xref: UMLS:C0155372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509941"}
is_a: MONDO:0005328 {source="DOID:2460"} ! eye disorder

[Term]
id: MONDO:0002311
name: retinal vascular disorder
def: "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage." [NCIT:C35170]
subset: otar {source="MONDO:OTAR"}
synonym: "retina circulation disorder" EXACT [DOID:2462]
synonym: "retinal vascular disorder" EXACT [NCIT:C35170]
xref: DOID:2462 {source="MONDO:equivalentTo"}
xref: ICD9:362.13 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35170 {source="DOID:2462", source="MONDO:equivalentTo"}
xref: SCTID:57534004 {source="DOID:2462", source="MONDO:equivalentTo"}
xref: UMLS:C0154833 {source="MEDGEN:57824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005283 {source="DOID:2462", source="MONDO:Redundant"} ! retinal disorder
is_a: MONDO:0005385 {source="DOID:2462", source="NCIT:C35170/inferred"} ! vascular disorder
intersection_of: MONDO:0005385 ! vascular disorder
intersection_of: disease_has_location UBERON:0004864 ! vasculature of retina

[Term]
id: MONDO:0002312
name: opportunistic mycosis
def: "A mycosis that arises from infection in an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
subset: otar {source="MONDO:OTAR"}
synonym: "opportunistic mycoses" EXACT [DOID:2473]
synonym: "opportunistic systemic mycoses" NARROW [DOID:2473]
xref: DOID:2473 {source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:118 {source="DOID:2473", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187108005 {source="DOID:2473"}
xref: SCTID:78999002 {source="DOID:2473", source="MONDO:equivalentTo"}
xref: UMLS:C0029119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508004"}
is_a: MONDO:0002041 {source="DOID:2473/inferred", source="MONDO:Redundant", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! fungal infectious disease
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: has_characteristic MONDO:0045035 ! opportunistic infectious
relationship: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
relationship: excluded_subClassOf MONDO:0000256 {source="DOID:2473", source="https://orcid.org/0000-0001-5208-3432"} ! systemic mycosis

[Term]
id: MONDO:0002313
name: vernal conjunctivitis
def: "Inflammation of the cornea that is seasonal in nature." [NCIT:P378]
xref: DOID:2474 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.44 {source="DOID:2474", source="MONDO:equivalentTo"}
xref: ICD9:372.13 {source="DOID:2474", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003233 {source="DOID:2474"}
xref: NCIT:C34508 {source="DOID:2474", source="MONDO:equivalentTo"}
xref: SCTID:193774003 {source="DOID:2474"}
xref: SCTID:193867003 {source="DOID:2474"}
xref: SCTID:20212001 {source="DOID:2474"}
xref: SCTID:318316003 {source="DOID:2474", source="MONDO:equivalentTo"}
xref: UMLS:C0009773 {source="MEDGEN:3211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002314 {source="DOID:2474", source="ICD10CM:H10.44", source="NCIT:C34508"} ! chronic conjunctivitis

[Term]
id: MONDO:0002314
name: chronic conjunctivitis
def: "Conjunctivitis that is persistent and long-standing." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic conjunctivitis" EXACT [DOID:2475, NCIT:C35197]
synonym: "chronic conjunctivitis (disease)" EXACT []
synonym: "chronic conjunctivitis, unspecified" EXACT [DOID:2475, ICD9CM:372.10]
synonym: "conjunctivitis (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:2475 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.4 {source="DOID:2475", source="MONDO:equivalentTo"}
xref: ICD10CM:H10.40 {source="DOID:2475"}
xref: ICD9:372.1 {source="DOID:2475"}
xref: ICD9:372.10 {source="DOID:2475", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35197 {source="DOID:2475", source="MONDO:equivalentTo"}
xref: SCTID:155163007 {source="DOID:2475"}
xref: SCTID:193865006 {source="DOID:2475"}
xref: SCTID:193869000 {source="DOID:2475"}
xref: SCTID:73762008 {source="DOID:2475", source="MONDO:equivalentTo"}
xref: UMLS:C0155145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102326"}
is_a: MONDO:0003799 {source="DOID:2475", source="MONDO:Redundant", source="NCIT:C35197"} ! conjunctivitis
intersection_of: MONDO:0003799 ! conjunctivitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0002315
name: obsolete hereditary spastic paraplegia
is_obsolete: true
replaced_by: MONDO:0019064

[Term]
id: MONDO:0002316
name: motor peripheral neuropathy
def: "Inflammation or degeneration of the peripheral motor nerves." [NCIT:C3500]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary motor and sensory neuropathy" NARROW [DOID:2477]
synonym: "HSMN" NARROW ABBREVIATION [DOID:2477]
synonym: "HSMN - hereditary sensory and motor neuropathy" NARROW [DOID:2477]
synonym: "neuropathic muscular atrophy" RELATED [DOID:2477]
synonym: "peripheral motor neuropathy" EXACT [NCIT:C3500]
xref: DOID:2477 {source="MONDO:equivalentTo"}
xref: ICD10CM:G60.0 {source="DOID:2477"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015417 {source="MONDO:relatedTo", source="DOID:2477"}
xref: NCIT:C3500 {source="MONDO:equivalentTo"}
xref: NCIT:C75467 {source="DOID:2477", source="MONDO:directSiblingOf"}
xref: SCTID:128202008 {source="DOID:2477"}
xref: SCTID:155081008 {source="DOID:2477"}
xref: SCTID:193158000 {source="DOID:2477"}
xref: SCTID:193160003 {source="DOID:2477"}
xref: SCTID:193161004 {source="DOID:2477"}
xref: SCTID:398100001 {source="DOID:2477"}
xref: SCTID:95663000 {source="MONDO:equivalentTo"}
xref: UMLS:C0271683 {source="MEDGEN:82885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005244 {source="DOID:2477", source="NCIT:C3500", source="NCIT:C3500/inferred"} ! peripheral neuropathy

[Term]
id: MONDO:0002317
name: central nervous system origin vertigo
def: "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" [MESH:D014717]
synonym: "central vestibular vertigo" EXACT [DOID:2479]
synonym: "vertigo of central origin" EXACT [DOID:2479, ICD9CM:386.2]
xref: DOID:2479 {source="MONDO:equivalentTo"}
xref: ICD10CM:H81.4 {source="DOID:2479"}
xref: ICD9:386.2 {source="DOID:2479", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014717 {source="DOID:2479"}
xref: SCTID:194362009 {source="DOID:2479"}
xref: SCTID:20425006 {source="DOID:2479"}
xref: SCTID:38403006 {source="DOID:2479", source="MONDO:equivalentTo"}
xref: UMLS:C0155503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56365"}
is_a: MONDO:0005560 {source="DOID:2479"} ! brain disorder

[Term]
id: MONDO:0002318
name: trachea leiomyoma
def: "A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of the trachea" EXACT [DOID:248, NCIT:C6049]
synonym: "leiomyoma of trachea" EXACT [NCIT:C6049]
synonym: "neoplasm of trachea" RELATED EXCLUDE [DOID:248]
synonym: "trachea leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6049]
synonym: "trachea neoplasm" BROAD [DOID:248]
synonym: "tracheal leiomyoma" EXACT [NCIT:C6049]
synonym: "tracheal neoplasm" BROAD [DOID:248]
synonym: "tracheal tumor" BROAD [DOID:248, NCIT:C3419]
synonym: "tracheal tumour" BROAD OMO:0003005 []
xref: DOID:248 {source="MONDO:equivalentTo"}
xref: MEDGEN:237015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014134 {source="DOID:248"}
xref: NCIT:C3419 {source="DOID:248"}
xref: NCIT:C6049 {source="DOID:248", source="MONDO:equivalentTo"}
xref: SCTID:126703006 {source="DOID:248", source="MONDO:equivalentTo"}
xref: UMLS:C1336772 {source="MEDGEN:237015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000382 {source="DOID:248", source="MONDO:Redundant", source="MONDO:indirect"} ! respiratory system benign neoplasm
is_a: MONDO:0001572 {source="DOID:248", source="MONDO:Redundant", source="NCIT:C6049"} ! leiomyoma
is_a: MONDO:0002567 {source="DOID:248", source="MONDO:Redundant", source="NCIT:C6049/inferred"} ! tracheal disorder
is_a: MONDO:0021517 {source="MONDO:Redundant", source="NCIT:C6049"} ! benign neoplasm of trachea
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0002319
name: phosphorus metabolism disease
def: "A metabolic disorder that affects the phosphate homeostasis." [NCIT:C97095]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of phosphorus metabolism" EXACT [DOID:2485, ICD9CM:275.3]
synonym: "phosphorus disorder" EXACT [DOID:2485]
synonym: "phosphorus metabolic disorder" EXACT [NCIT:C97095]
synonym: "phosphorus metabolism disorder" EXACT [DOID:2485]
xref: DOID:2485 {source="MONDO:equivalentTo"}
xref: ICD10CM:E83.3 {source="MONDO:equivalentTo"}
xref: ICD9:275.3 {source="DOID:2485", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:19276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010760 {source="DOID:2485", source="MONDO:equivalentTo"}
xref: NCIT:C97095 {source="DOID:2485", source="MONDO:equivalentTo"}
xref: SCTID:154752005 {source="DOID:2485"}
xref: SCTID:190858002 {source="DOID:2485"}
xref: SCTID:190862008 {source="DOID:2485"}
xref: SCTID:267505006 {source="DOID:2485"}
xref: SCTID:87049008 {source="DOID:2485", source="MONDO:equivalentTo"}
xref: UMLS:C0031707 {source="MEDGEN:19276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 {source="DOID:2485", source="ICD10CM:E83.3", source="MONDO:Redundant"} ! mineral metabolism disease
is_a: MONDO:0005066 {source="DOID:2485/inferred", source="ICD10CM:E83.3/inferred", source="MESH:D010760", source="MONDO:Redundant", source="NCIT:C97095"} ! metabolic disease
intersection_of: MONDO:0000226 ! mineral metabolism disease
intersection_of: disease_disrupts GO:0006793 ! phosphorus metabolic process

[Term]
id: MONDO:0002320
name: congenital nervous system disorder
def: "An abnormality of the nervous system that is present at birth or detected in the neonatal period." [NCIT:C97172]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital abnormality of the nervous system" EXACT [NCIT:C97172]
synonym: "congenital nervous system disorder" EXACT [NCIT:C97172]
synonym: "congenital neurologic anomaly" EXACT [DOID:2490]
xref: DOID:2490 {source="MONDO:equivalentTo"}
xref: ICD9:742 {source="DOID:2490"}
xref: MEDGEN:105425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97172 {source="MONDO:equivalentTo"}
xref: SCTID:204018008 {source="DOID:2490"}
xref: UMLS:C0497552 {source="MONDO:equivalentTo", source="MEDGEN:105425", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0001016 ! nervous system
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: excluded_subClassOf MONDO:0000839 {source="DOID:2490", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital abnormality

[Term]
id: MONDO:0002321
name: sensory peripheral neuropathy
def: "Inflammation or degeneration of the sensory nerves." [NCIT:C3501]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peripheral neuropathy of sensory nerve" EXACT [MONDO:design_pattern]
synonym: "peripheral sensory neuropathy" EXACT [DOID:2491, NCIT:C3501]
synonym: "sensory nerve peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "sensory neuropathy" EXACT [DOID:2491]
xref: DOID:2491 {source="MONDO:equivalentTo"}
xref: ICD9:356.2 {source="DOID:2491"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:101791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009477 {source="DOID:2491"}
xref: NCIT:C3501 {source="MONDO:equivalentTo", source="DOID:2491"}
xref: SCTID:11442006 {source="DOID:2491"}
xref: SCTID:193163001 {source="DOID:2491"}
xref: SCTID:95662005 {source="MONDO:equivalentTo", source="DOID:2491"}
xref: UMLS:C0151313 {source="MEDGEN:101791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005244 {source="DOID:2491", source="MONDO:Redundant", source="NCIT:C3501", source="NCIT:C3501/inferred"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_has_location UBERON:0001027 ! sensory nerve

[Term]
id: MONDO:0002322
name: angiodysplasia
def: "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia." [MESH:D016888]
synonym: "angiodysplasia of stomach and duodenum with haemorrhage" NARROW OMO:0003005 []
synonym: "angiodysplasia of stomach and duodenum with hemorrhage" NARROW [DOID:2494]
xref: DOID:2494 {source="MONDO:equivalentTo"}
xref: ICD9:537.83 {source="DOID:2494"}
xref: MEDGEN:88403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016888 {source="DOID:2494", source="MONDO:equivalentTo"}
xref: SCTID:71072006 {source="DOID:2494"}
xref: SCTID:90858003 {source="MONDO:equivalentTo"}
xref: UMLS:C0085411 {source="MEDGEN:88403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="DOID:2494", source="MESH:D016888"} ! vascular disorder
relationship: disease_has_location UBERON:0001555 ! digestive tract

[Term]
id: MONDO:0002323
name: cherry hemangioma
def: "A capillary hemangioma of the skin, presenting as a red papular lesion." [NCIT:C4390]
synonym: "cherry angioma" EXACT [NCIT:C4390]
synonym: "cherry hemangioma" EXACT [NCIT:C4390]
synonym: "Senile angioma" EXACT [NCIT:C4390]
synonym: "Senile hemangioma" EXACT [DOID:2495, NCIT:C4390]
synonym: "Senile naevus of skin" EXACT [DOID:2495]
xref: DOID:2495 {source="MONDO:equivalentTo"}
xref: MEDGEN:87470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4390 {source="DOID:2495", source="MONDO:equivalentTo"}
xref: SCTID:11790000 {source="DOID:2495"}
xref: SCTID:5050001 {source="DOID:2495", source="MONDO:equivalentTo"}
xref: UMLS:C0343082 {source="MEDGEN:87470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002407 {source="NCIT:C4390"} ! capillary hemangioma
is_a: MONDO:0002531 {source="DOID:2495", source="NCIT:C4390/inferred"} ! skin neoplasm
is_a: MONDO:0003110 {source="MONDO:Redundant", source="NCIT:C4390"} ! skin hemangioma

[Term]
id: MONDO:0002324
name: obsolete enamel erosion
comment: obsolete as not a disease
xref: DOID:2497 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:521.31 {source="DOID:2497"}
is_obsolete: true

[Term]
id: MONDO:0002325
name: tooth erosion, non-bacterial
def: "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" [MESH:D014077-modified]
synonym: "generalised erosion" RELATED OMO:0003005 []
synonym: "generalized erosion" RELATED [DOID:2498]
synonym: "localised erosion" RELATED OMO:0003005 []
synonym: "localized erosion" RELATED [DOID:2498]
synonym: "tooth erosion" EXACT [DOID:2498]
xref: DOID:2498 {source="MONDO:equivalentTo"}
xref: ICD10CM:K03.2 {source="DOID:2498"}
xref: ICD9:521.3 {source="DOID:2498", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:521.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:521.34 {source="DOID:2498"}
xref: ICD9:521.35 {source="DOID:2498"}
xref: MEDGEN:21584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014077 {source="DOID:2498", source="MONDO:equivalentTo"}
xref: SCTID:155634008 {source="DOID:2498"}
xref: SCTID:196315004 {source="DOID:2498"}
xref: SCTID:266486000 {source="DOID:2498"}
xref: SCTID:82212003 {source="DOID:2498", source="MONDO:equivalentTo"}
xref: UMLS:C0040436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21584"}
is_a: MONDO:0006999 {source="DOID:2498/inferred", source="MESH:D014077/inferred"} ! tooth disorder
relationship: excluded_subClassOf MONDO:0002220 {source="DOID:2498", source="https://orcid.org/0000-0001-5208-3432"} ! tooth hard tissue disease

[Term]
id: MONDO:0002326
name: alcohol-induced mental disorder
subset: otar {source="MONDO:OTAR"}
xref: DOID:251 {source="MONDO:equivalentTo"}
xref: ICD9:291.8 {source="DOID:251"}
xref: ICD9:291.89 {source="DOID:251"}
xref: MEDGEN:1705315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5200920 {source="MEDGEN:1705315", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005084 ! mental disorder
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption
relationship: excluded_subClassOf MONDO:0004630 {source="DOID:251", source="https://orcid.org/0000-0001-5208-3432"} ! substance-induced psychosis

[Term]
id: MONDO:0002327
name: intracranial cavernous angioma
def: "A cavernous hemangioma arising from the brain and meninges." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intracranial cavernoma" EXACT [DOID:2516, NCIT:C5432]
synonym: "intracranial cavernous angioma" EXACT [NCIT:C5432]
synonym: "intracranial cavernous hemangioma" EXACT [NCIT:C5432]
xref: DOID:2516 {source="MONDO:equivalentTo"}
xref: MEDGEN:232659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200852 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C5432 {source="MONDO:equivalentTo", source="DOID:2516"}
xref: SCTID:445513004 {source="MONDO:equivalentTo", source="DOID:2516"}
xref: UMLS:C1334237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232659"}
is_a: MONDO:0002328 {source="DOID:2516", source="NCIT:C5432"} ! intracranial hemangioma
is_a: MONDO:0003155 {source="DOID:2516", source="NCIT:C5432/inferred"} ! cavernous hemangioma

[Term]
id: MONDO:0002328
name: intracranial hemangioma
def: "A hemangioma arising from the brain and meninges." [NCIT:C3633]
subset: otar {source="MONDO:OTAR"}
synonym: "angioma of intracranial structure" EXACT [DOID:2517, NCIT:C3633]
synonym: "angioma of the intracranial structure" EXACT [NCIT:C3633]
synonym: "brain hemangioma" BROAD [MONDO:patterns/location]
synonym: "hemangioma of brain" EXACT [MONDO:design_pattern]
synonym: "hemangioma of intracranial structure" EXACT [NCIT:C3633]
synonym: "hemangioma of intracranial structures" EXACT [DOID:2517, ICD9CM:228.02]
synonym: "hemangioma of the intracranial structure" EXACT [NCIT:C3633]
synonym: "intracranial angioma" EXACT [NCIT:C3633]
synonym: "intracranial hemangioma" EXACT [NCIT:C3633]
synonym: "intracranial structure hemangioma" RELATED [DOID:2517]
xref: DOID:2517 {source="MONDO:equivalentTo"}
xref: ICD10CM:D18.02 {source="MONDO:equivalentTo", source="DOID:2517"}
xref: ICD9:228.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2517"}
xref: MEDGEN:57582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3633 {source="MONDO:equivalentTo", source="DOID:2517"}
xref: SCTID:189196005 {source="DOID:2517"}
xref: SCTID:93468003 {source="MONDO:equivalentTo", source="DOID:2517"}
xref: UMLS:C0154050 {source="MONDO:equivalentTo", source="MEDGEN:57582", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:2517", source="MONDO:Redundant", source="NCIT:C3633"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0002329
name: testicular disorder
def: "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia." [NCIT:C26890]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of testis" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of testis" EXACT []
synonym: "disorder of testis" EXACT [DOID:2519, MONDO:patterns/location_top]
synonym: "testicular disease" EXACT [NCIT:C26890]
synonym: "testicular disorder" EXACT [NCIT:C26890]
synonym: "testis disease" EXACT [MONDO:patterns/location]
synonym: "testis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "testis disorder" EXACT [DOID:2519]
xref: DOID:2519 {source="MONDO:equivalentTo"}
xref: EFO:0009601 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:608.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013733 {source="MONDO:equivalentTo", source="DOID:2519"}
xref: NCIT:C26890 {source="NCIT:C26890", source="MONDO:equivalentTo", source="DOID:2519"}
xref: SCTID:236763001 {source="DOID:2519"}
xref: SCTID:297228003 {source="DOID:2519"}
xref: SCTID:64910008 {source="MONDO:equivalentTo", source="DOID:2519"}
xref: UMLS:C0039584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11743"}
is_a: MONDO:0002259 {source="DOID:2519", source="MESH:D013733", source="MONDO:Redundant"} ! gonadal disorder
is_a: MONDO:0003150 {source="DOID:2519", source="MESH:D013733", source="MONDO:Redundant", source="NCIT:C26890"} ! male reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0002330
name: alcoholic psychosis
def: "A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." [MESH:D011604]
subset: otar {source="MONDO:OTAR"}
synonym: "alcoholic psychoses" EXACT [DOID:252]
xref: DOID:252 {source="MONDO:equivalentTo"}
xref: EFO:1001260 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:291.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:291.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:291.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:252"}
xref: MEDGEN:11009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011604 {source="MONDO:equivalentTo", source="DOID:252"}
xref: SCTID:154852003 {source="DOID:252"}
xref: SCTID:191482008 {source="DOID:252"}
xref: SCTID:192212000 {source="DOID:252"}
xref: SCTID:268684002 {source="DOID:252"}
xref: SCTID:42344001 {source="MONDO:equivalentTo", source="DOID:252"}
xref: UMLS:C0033936 {source="MEDGEN:11009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002326 {source="DOID:252", source="MONDO:Redundant"} ! alcohol-induced mental disorder
is_a: MONDO:0021698 {source="MESH:D011604", source="MESH:D011604/inferred"} ! alcohol-related disorders
intersection_of: MONDO:0005485 ! psychotic disorder
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0002331
name: nephrosis
def: "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA." [MESH:D009401]
subset: otar {source="MONDO:OTAR"}
synonym: "Nephroses" EXACT [MESH:D009401]
xref: DOID:2527 {source="MONDO:equivalentTo"}
xref: MEDGEN:10223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009401 {source="MONDO:equivalentTo", source="DOID:2527"}
xref: SCTID:90708001 {source="DOID:2527"}
xref: UMLS:C0027720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10223"}
is_a: MONDO:0005240 {source="DOID:2527", source="MESH:D009401"} ! kidney disorder

[Term]
id: MONDO:0002332
name: splenic disorder
def: "A disease involving the spleen." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease of spleen" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of spleen" EXACT []
synonym: "disorder of spleen" EXACT [MONDO:patterns/location_top]
synonym: "Dyssplenism" EXACT [DOID:2529]
synonym: "spleen disease" EXACT [DOID:2529, MONDO:patterns/location]
synonym: "spleen disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "spleen disorder" EXACT [NCIT:C35823]
synonym: "splenic disease" EXACT []
synonym: "splenic disorder" EXACT []
xref: DOID:2529 {source="MONDO:equivalentTo"}
xref: EFO:0009002 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D73 {source="MONDO:equivalentTo", source="DOID:2529"}
xref: ICD10CM:D73.9 {source="DOID:2529"}
xref: ICD9:289.50 {source="DOID:2529"}
xref: MEDGEN:21291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013158 {source="MONDO:equivalentTo", source="DOID:2529"}
xref: NCIT:C35823 {source="MONDO:equivalentTo", source="DOID:2529"}
xref: SCTID:154839008 {source="DOID:2529"}
xref: SCTID:191381002 {source="DOID:2529"}
xref: SCTID:191385006 {source="DOID:2529"}
xref: SCTID:267570002 {source="DOID:2529"}
xref: SCTID:51244008 {source="MONDO:equivalentTo", source="DOID:2529"}
xref: SCTID:58381000 {source="DOID:2529"}
xref: UMLS:C0037997 {source="MEDGEN:21291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005833 {source="DOID:2529", source="EFO:0009002", source="MESH:D013158"} ! lymphatic system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0002333
name: splenic abscess
def: "An abscess that is located in the spleen." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "splenic abscess" EXACT [MONDO:ambiguous]
synonym: "splenic abscess (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2530 {source="MONDO:equivalentTo"}
xref: HP:0025059 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D73.3 {source="DOID:2530", source="MONDO:equivalentTo"}
xref: ICD9:289.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:124428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35347 {source="DOID:2530", source="MONDO:equivalentTo"}
xref: SCTID:82053000 {source="DOID:2530", source="MONDO:equivalentTo"}
xref: UMLS:C0272412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124428"}
is_a: MONDO:0002332 {source="DOID:2530", source="ICD10CM:D73.3", source="MONDO:Redundant", source="NCIT:C35347/inferred"} ! splenic disorder
is_a: MONDO:0005227 {source="MONDO:Redundant", source="NCIT:C35347"} ! abscess
intersection_of: MONDO:0005227 ! abscess
intersection_of: disease_has_location UBERON:0002106 ! spleen
property_value: IAO:0000589 "splenic abscess (disease)" xsd:string

[Term]
id: MONDO:0002334
name: hematopoietic and lymphoid system neoplasm
def: "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003" [NCIT:C35813]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blood cancer" NARROW [DOID:2531]
synonym: "blood neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "blood tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "blood tumour" EXACT OMO:0003005 []
synonym: "haematological tumours" EXACT OMO:0003005 []
synonym: "haematopoietic and lymphoid system tumour" EXACT OMO:0003005 []
synonym: "haematopoietic cancer" NARROW OMO:0003005 []
synonym: "haematopoietic neoplasm" BROAD OMO:0003005 []
synonym: "haematopoietic neoplasm (morphologic abnormality)" BROAD OMO:0003005 []
synonym: "haematopoietic system neoplasm" EXACT OMO:0003005 []
synonym: "haematopoietic system tumour" EXACT OMO:0003005 []
synonym: "haematopoietic tumours" EXACT OMO:0003005 []
synonym: "hematologic cancer" RELATED [DOID:2531]
synonym: "hematologic malignancy" NARROW [DOID:2531]
synonym: "hematologic neoplasm" BROAD [DOID:2531]
synonym: "hematological tumors" EXACT [DOID:2531, NCIT:C27134]
synonym: "hematopoietic and lymphoid system neoplasm" EXACT [NCIT:C35813]
synonym: "hematopoietic and lymphoid system tumor" EXACT [DOID:2531, NCIT:C35813]
synonym: "hematopoietic cancer" NARROW [DOID:2531]
synonym: "hematopoietic neoplasm" BROAD [DOID:2531]
synonym: "hematopoietic neoplasm (morphologic abnormality)" BROAD [DOID:2531]
synonym: "hematopoietic system neoplasm" EXACT []
synonym: "hematopoietic system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "hematopoietic tumors" EXACT [DOID:2531, NCIT:C27134]
synonym: "malignant haematopoietic neoplasm" RELATED OMO:0003005 []
synonym: "malignant haematopoietic neoplasm (morphologic abnormality)" NARROW OMO:0003005 []
synonym: "malignant hematopoietic neoplasm" RELATED EXCLUDE [DOID:2531]
synonym: "malignant hematopoietic neoplasm (morphologic abnormality)" NARROW [DOID:2531]
synonym: "neoplasm of blood" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of haematopoietic system" EXACT OMO:0003005 []
synonym: "neoplasm of hematopoietic system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of blood" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of hematopoietic system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of blood" EXACT OMO:0003005 []
synonym: "tumour of haematopoietic system" EXACT OMO:0003005 []
xref: DOID:2531 {source="MONDO:equivalentTo"}
xref: MEDGEN:268180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019337 {source="DOID:2531", source="MONDO:equivalentTo"}
xref: NCIT:C27134 {source="DOID:2531"}
xref: NCIT:C35813 {source="MONDO:equivalentTo"}
xref: SCTID:129154003 {source="MONDO:equivalentTo"}
xref: SCTID:414388001 {source="DOID:2531"}
xref: SCTID:414644002 {source="DOID:2531"}
xref: UMLS:C1512393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:268180"}
is_a: MONDO:0005070 {source="DOID:2531/inferred", source="MESH:D019337/inferred", source="MONDO:Redundant", source="NCIT:C35813/inferred"} ! neoplasm
is_a: MONDO:0005570 {source="MESH:D019337", source="MONDO:Redundant"} ! hematologic disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002390 ! hematopoietic system

[Term]
id: MONDO:0002335
name: obsolete chronic inflammatory demyelinating polyneuritis
xref: NANDO:1200030 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100251 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200905 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7119" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006702

[Term]
id: MONDO:0002336
name: obsolete inflammatory and toxic neuropathy
xref: DOID:2537 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:357 {source="DOID:2537"}
xref: ICD9:357.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:357.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:357.9 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:2537"}
xref: SCTID:155060008 {source="DOID:2537"}
xref: SCTID:193172009 {source="DOID:2537"}
xref: SCTID:193204000 {source="DOID:2537"}
xref: SCTID:267601009 {source="MONDO:obsoleteEquivalent", source="DOID:2537"}
xref: SCTID:267603007 {source="DOID:2537"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: MONDO:0005244

[Term]
id: MONDO:0002337
name: intra-abdominal hemangioma
def: "A hemangioma arising from organs within the abdominal cavity." [NCIT:C3635]
synonym: "abdominal cavity hemangioma" EXACT [MONDO:patterns/location]
synonym: "hemangioma of abdominal cavity" EXACT [MONDO:design_pattern]
synonym: "hemangioma of intra-abdominal structure" EXACT [NCIT:C3635]
synonym: "hemangioma of intra-abdominal structures" EXACT [DOID:254, ICD9CM:228.04]
synonym: "hemangioma, intra-abdominal" EXACT [DOID:254, NCIT:C3635]
synonym: "intra-abdominal hemangioma" EXACT [NCIT:C3635]
xref: DOID:254 {source="MONDO:equivalentTo"}
xref: ICD10CM:D18.03 {source="MONDO:equivalentTo", source="DOID:254"}
xref: ICD9:228.04 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:254"}
xref: MEDGEN:57583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3635 {source="MONDO:equivalentTo", source="DOID:254"}
xref: SCTID:189197001 {source="MONDO:equivalentTo", source="DOID:254"}
xref: SCTID:93467008 {source="DOID:254"}
xref: UMLS:C0154052 {source="MEDGEN:57583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:254", source="MONDO:Redundant", source="NCIT:C3635"} ! hemangioma
intersection_of: MONDO:0006500 {source="NCIT:C3635"} ! hemangioma
intersection_of: disease_has_location UBERON:0003684 {source="NCIT:C3635"} ! abdominal cavity

[Term]
id: MONDO:0002338
name: extratemporal epilepsy
def: "An epilepsy syndrome that is located in an area of the brain other than the temporal lobe." [DOID:2544, http://www.webmd.com/epilepsy/extratemporal-cortical-resection]
synonym: "extratemporal epilepsy" EXACT [DOID:2544, NCIT:C7760]
xref: DOID:2544 {source="MONDO:equivalentTo"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7760 {source="MONDO:equivalentTo", source="DOID:2544"}
xref: SCTID:111498005 {source="MONDO:equivalentTo", source="DOID:2544"}
xref: UMLS:C0270849 {source="MEDGEN:78737", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="DOID:2544", source="NCIT:C7760"} ! epilepsy

[Term]
id: MONDO:0002339
name: obsolete hemangioma
is_obsolete: true
replaced_by: MONDO:0006500

[Term]
id: MONDO:0002340
name: tactile epilepsy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:2550 {source="MONDO:equivalentTo"}
xref: MEDGEN:97960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4687 {source="DOID:2550", source="MONDO:equivalentTo"}
xref: SCTID:230449001 {source="DOID:2550", source="MONDO:equivalentTo"}
xref: UMLS:C0393724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:97960"}
is_a: MONDO:0017768 {source="DOID:2550", source="NCIT:C4687"} ! reflex epilepsy

[Term]
id: MONDO:0002341
name: granulomatous angiitis
def: "Inflammation of the arteries that is characterized by the presence of granulomas." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Granulomatous arteritis" EXACT [NCIT:C34653]
xref: DOID:2555 {source="MONDO:equivalentTo"}
xref: MEDGEN:9088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020293 {source="DOID:2555", source="MONDO:directSiblingOf"}
xref: NCIT:C34653 {source="MONDO:equivalentTo", source="DOID:2555"}
xref: UMLS:C0018202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9088"}
is_a: MONDO:0018882 {source="DOID:2555", source="NCIT:C34653/inferred"} ! vasculitis
is_a: MONDO:0043494 {source="NCIT:C34653"} ! arteritis

[Term]
id: MONDO:0002342
name: chondromalacia
def: "Pathological processes involving the chondral tissue (cartilage)." [MESH:D002357]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2557 {source="MONDO:equivalentTo"}
xref: ICD10CM:M94.2 {source="MONDO:equivalentTo", source="DOID:2557"}
xref: ICD10CM:M94.20 {source="DOID:2557"}
xref: ICD9:733.92 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2557"}
xref: MEDGEN:39328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002357 {source="DOID:2557"}
xref: SCTID:203512007 {source="DOID:2557"}
xref: SCTID:63198006 {source="MONDO:equivalentTo", source="DOID:2557"}
xref: UMLS:C0085700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39328"}
is_a: MONDO:0003816 {source="DOID:2557"} ! articular cartilage disorder

[Term]
id: MONDO:0002343
name: splenic hemangioma
def: "A hemangioma arising from the spleen." [NCIT:C8541]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angioma of spleen" EXACT [NCIT:C8541]
synonym: "angioma of the spleen" EXACT [NCIT:C8541]
synonym: "hemangioma of spleen" EXACT [NCIT:C8541]
synonym: "hemangioma of the spleen" EXACT [NCIT:C8541]
synonym: "spleen angioma" EXACT [NCIT:C8541]
synonym: "spleen hemangioma" EXACT [MONDO:patterns/location, NCIT:C8541]
synonym: "splenic angioma" EXACT [NCIT:C8541]
synonym: "splenic hemangioma" EXACT [DOID:256, NCIT:C8541]
xref: DOID:256 {source="MONDO:equivalentTo"}
xref: MEDGEN:151930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8541 {source="MONDO:equivalentTo", source="DOID:256"}
xref: SCTID:93472004 {source="MONDO:equivalentTo", source="DOID:256"}
xref: UMLS:C0685201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:151930"}
is_a: MONDO:0000630 {source="DOID:256", source="MONDO:Redundant", source="MONDO:indirect"} ! immune system organ benign neoplasm
is_a: MONDO:0002332 {source="DOID:256", source="MONDO:Redundant", source="NCIT:C8541/inferred"} ! splenic disorder
is_a: MONDO:0002337 {source="DOID:256", source="NCIT:C8541"} ! intra-abdominal hemangioma
is_a: MONDO:0021500 {source="MONDO:Redundant", source="NCIT:C8541"} ! benign neoplasm of spleen
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0002344
name: obsolete corneal dystrophy
is_obsolete: true
replaced_by: MONDO:0018102

[Term]
id: MONDO:0002345
name: cervicitis
def: "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cervicitis" EXACT [MONDO:ambiguous]
synonym: "cervicitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2568 {source="MONDO:equivalentTo"}
xref: HP:0030160 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N72 {source="DOID:2568"}
xref: ICD9:616.0 {source="DOID:2568"}
xref: MEDGEN:3338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002575 {source="MONDO:equivalentTo", source="DOID:2568"}
xref: NCIT:C26716 {source="MONDO:equivalentTo", source="DOID:2568"}
xref: SCTID:155980007 {source="DOID:2568"}
xref: SCTID:198199009 {source="DOID:2568"}
xref: SCTID:198200007 {source="DOID:2568"}
xref: SCTID:198211004 {source="DOID:2568"}
xref: SCTID:237081003 {source="DOID:2568"}
xref: SCTID:266585004 {source="DOID:2568"}
xref: SCTID:266654000 {source="DOID:2568"}
xref: SCTID:37610005 {source="MONDO:equivalentTo", source="DOID:2568"}
xref: SCTID:80059007 {source="DOID:2568"}
xref: UMLS:C0007860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3338"}
is_a: MONDO:0002256 {source="DOID:2568", source="MESH:D002575", source="NCIT:C26716/inferred"} ! cervix disorder
property_value: IAO:0000589 "cervicitis (disease)" xsd:string

[Term]
id: MONDO:0002346
name: obsolete malignant histiocytic disease
is_obsolete: true
replaced_by: MONDO:0004612

[Term]
id: MONDO:0002347
name: barbiturate dependence
def: "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance." [DOID:2575, http://en.wikipedia.org/wiki/Barbiturate_dependence]
xref: DOID:2575 {source="MONDO:equivalentTo"}
xref: ICD9:304.11 {source="DOID:2575"}
xref: ICD9:304.13 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:572756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:231472009 {source="DOID:2575", source="MONDO:equivalentTo"}
xref: UMLS:C0338767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:572756"}
is_a: MONDO:0005303 {source="DOID:2575"} ! drug dependence

[Term]
id: MONDO:0002348
name: obsolete chondrodysplasia punctata
is_obsolete: true
replaced_by: MONDO:0019701

[Term]
id: MONDO:0002349
name: obsolete agammaglobulinemia
is_obsolete: true
replaced_by: MONDO:0015977

[Term]
id: MONDO:0002350
name: familial nephrotic syndrome
def: "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital nephrotic syndrome" EXACT [DOID:2590, NCIT:C35337]
synonym: "hereditary nephrotic syndrome" EXACT [MONDO:patterns/hereditary]
xref: DOID:2590 {source="MONDO:equivalentTo"}
xref: ICD10CM:N04 {source="DOID:2590"}
xref: MEDGEN:502251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535761 {source="DOID:2590"}
xref: NCIT:C35337 {source="MONDO:equivalentTo", source="DOID:2590"}
xref: OMIMPS:256300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:197602005 {source="DOID:2590"}
xref: SCTID:48796009 {source="MONDO:equivalentTo", source="DOID:2590"}
xref: UMLS:C3501848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:502251"}
is_a: MONDO:0005377 {source="DOID:2590", source="MONDO:Redundant", source="NCIT:C35337"} ! nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256300"} ! inherited

[Term]
id: MONDO:0002351
name: glottis cancer
def: "A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas." [NCIT:C3544]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca larynx - glottis" EXACT [DOID:2595]
synonym: "cancer of glottis" EXACT [MONDO:patterns/cancer]
synonym: "glottis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant glottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3544]
synonym: "malignant glottis tumor" EXACT [NCIT:C3544]
synonym: "malignant glottis tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of glottis" EXACT [MONDO:patterns/cancer, NCIT:C3544]
synonym: "malignant neoplasm of the glottis" EXACT [NCIT:C3544]
synonym: "malignant tumor of glottis" EXACT [NCIT:C3544]
synonym: "malignant tumor of the glottis" EXACT [DOID:2595, NCIT:C3544]
synonym: "malignant tumour of glottis" EXACT OMO:0003005 []
synonym: "malignant tumour of the glottis" EXACT OMO:0003005 []
xref: DOID:2595 {source="MONDO:equivalentTo"}
xref: ICD10CM:C32.0 {source="DOID:2595"}
xref: ICD9:161.0 {source="DOID:2595", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3544 {source="DOID:2595", source="MONDO:equivalentTo"}
xref: SCTID:154481005 {source="DOID:2595"}
xref: SCTID:187841006 {source="DOID:2595", source="MONDO:equivalentTo"}
xref: SCTID:269557000 {source="DOID:2595"}
xref: UMLS:C0153483 {source="MONDO:equivalentTo", source="MEDGEN:57560", source="MONDO:MEDGEN"}
is_a: MONDO:0002352 {source="DOID:2595", source="MONDO:Redundant", source="NCIT:C3544"} ! larynx cancer
is_a: MONDO:0002353 {source="MONDO:Redundant", source="NCIT:C3544"} ! glottis neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002486 ! glottis

[Term]
id: MONDO:0002352
name: larynx cancer
def: "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." [NCIT:C7484]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of larynx" EXACT [MONDO:patterns/cancer]
synonym: "larynx cancer" EXACT [MONDO:patterns/location]
synonym: "malignant laryngeal neoplasm" EXACT [NCIT:C7484]
synonym: "malignant laryngeal tumor" EXACT [NCIT:C7484]
synonym: "malignant laryngeal tumour" EXACT OMO:0003005 []
synonym: "malignant larynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7484]
synonym: "malignant larynx tumor" EXACT [NCIT:C7484]
synonym: "malignant larynx tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of larynx" EXACT [MONDO:patterns/cancer, NCIT:C7484]
synonym: "malignant neoplasm of the larynx" EXACT [NCIT:C7484]
synonym: "malignant tumor of larynx" EXACT [NCIT:C7484]
synonym: "malignant tumor of the larynx" EXACT [NCIT:C7484]
synonym: "malignant tumour of larynx" EXACT OMO:0003005 []
synonym: "malignant tumour of the larynx" EXACT OMO:0003005 []
xref: DOID:2596 {source="MONDO:equivalentTo"}
xref: EFO:1000354 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C32 {source="DOID:2596"}
xref: ICD10CM:C32.9 {source="DOID:2596"}
xref: ICD9:161 {source="DOID:2596"}
xref: ICD9:161.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:161.9 {source="DOID:2596", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007822 {source="DOID:2596"}
xref: NCIT:C7484 {source="DOID:2596", source="MONDO:equivalentTo"}
xref: SCTID:154484002 {source="DOID:2596"}
xref: SCTID:187851007 {source="DOID:2596"}
xref: SCTID:269560007 {source="DOID:2596"}
xref: SCTID:363429002 {source="DOID:2596", source="MONDO:equivalentTo"}
xref: SCTID:93859007 {source="DOID:2596"}
xref: UMLS:C0007107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2868"}
is_a: MONDO:0000376 {source="DOID:2596", source="MONDO:Redundant"} ! respiratory system cancer
is_a: MONDO:0021071 {source="EFO:1000354", source="MONDO:Redundant", source="NCIT:C7484"} ! laryngeal neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0002353
name: glottis neoplasm
def: "A benign or malignant neoplasm that affects the glottic area of the larynx." [NCIT:C4425]
subset: otar {source="MONDO:OTAR"}
synonym: "glottis neoplasm" EXACT [NCIT:C4425]
synonym: "glottis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "glottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4425]
synonym: "glottis tumour" EXACT OMO:0003005 []
synonym: "neoplasm of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425]
synonym: "neoplasm of the glottis" EXACT [NCIT:C4425]
synonym: "tumor of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425]
synonym: "tumor of the glottis" EXACT [DOID:2597, NCIT:C4425]
synonym: "tumour of glottis" EXACT OMO:0003005 []
synonym: "tumour of the glottis" EXACT OMO:0003005 []
xref: DOID:2597 {source="MONDO:equivalentTo"}
xref: MEDGEN:138026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4425 {source="DOID:2597", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126693009 {source="DOID:2597", source="MONDO:equivalentTo"}
xref: UMLS:C0345713 {source="MEDGEN:138026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021071 {source="MONDO:Redundant", source="NCIT:C4425"} ! laryngeal neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002486 ! glottis

[Term]
id: MONDO:0002354
name: benign laryngeal neoplasm
def: "A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma." [NCIT:C3601]
subset: otar {source="MONDO:OTAR"}
synonym: "benign laryngeal neoplasm" EXACT [NCIT:C3601]
synonym: "benign laryngeal tumor" EXACT [NCIT:C3601]
synonym: "benign laryngeal tumour" EXACT OMO:0003005 []
synonym: "benign larynx neoplasm" EXACT [NCIT:C3601]
synonym: "benign larynx tumor" EXACT [NCIT:C3601]
synonym: "benign larynx tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of larynx" EXACT [NCIT:C3601]
synonym: "benign neoplasm of the larynx" EXACT [NCIT:C3601]
synonym: "benign tumor of larynx" EXACT [NCIT:C3601]
synonym: "benign tumor of the larynx" EXACT [NCIT:C3601]
synonym: "benign tumour of larynx" EXACT OMO:0003005 []
synonym: "benign tumour of the larynx" EXACT OMO:0003005 []
synonym: "laryngeal benign neoplasm" RELATED [DOID:2598]
synonym: "laryngeal neoplasm, benign" EXACT [NCIT:C3601]
synonym: "laryngeal tumor" BROAD [DOID:2598, NCIT:C3156]
synonym: "laryngeal tumour" BROAD OMO:0003005 []
synonym: "larynx benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "larynx neoplasm" BROAD [DOID:2598]
synonym: "neoplasm of larynx" RELATED EXCLUDE [DOID:2598]
xref: DOID:2598 {source="MONDO:equivalentTo"}
xref: ICD9:212.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007822 {source="DOID:2598"}
xref: NCIT:C3601 {source="MONDO:equivalentTo"}
xref: SCTID:126692004 {source="DOID:2598"}
xref: SCTID:92175003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56325"}
is_a: MONDO:0000382 {source="DOID:2598", source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0021071 {source="MONDO:Redundant", source="NCIT:C3601"} ! laryngeal neoplasm
intersection_of: MONDO:0005165 {source="NCIT:C3601"} ! benign neoplasm
intersection_of: disease_has_location UBERON:0001737 {source="NCIT:C3601"} ! larynx

[Term]
id: MONDO:0002355
name: glottis carcinoma
def: "A carcinoma that arises from epithelial cells of the glottis." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of glottis" BROAD [NCIT:C4923]
synonym: "cancer of the glottis" BROAD [NCIT:C4923]
synonym: "carcinoma of glottis" EXACT [MONDO:patterns/carcinoma, NCIT:C4923]
synonym: "carcinoma of the glottis" EXACT [NCIT:C4923]
synonym: "glottic carcinoma" EXACT [DOID:2599, NCIT:C4923]
synonym: "glottic throat cancer" BROAD [NCIT:C4923]
synonym: "glottis cancer" BROAD [NCIT:C4923]
synonym: "glottis carcinoma" EXACT [MONDO:patterns/location, NCIT:C4923]
xref: DOID:2599 {source="MONDO:equivalentTo"}
xref: MEDGEN:152820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4923 {source="MONDO:equivalentTo", source="DOID:2599"}
xref: SCTID:372103002 {source="MONDO:equivalentTo", source="DOID:2599"}
xref: UMLS:C0740083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152820"}
is_a: MONDO:0002351 {source="DOID:2599", source="MONDO:Redundant", source="NCIT:C4923"} ! glottis cancer
is_a: MONDO:0002358 {source="MONDO:Redundant", source="NCIT:C4923"} ! laryngeal carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002486 ! glottis

[Term]
id: MONDO:0002356
name: pancreas disorder
def: "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms." [NCIT:C26842]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of pancreas" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pancreas" EXACT []
synonym: "disease, pancreatic" RELATED [MESH:D010182]
synonym: "diseases, pancreatic" RELATED [MESH:D010182]
synonym: "disorder of pancreas" EXACT [MONDO:patterns/location_top]
synonym: "pancreas disease" EXACT [MONDO:patterns/location]
synonym: "pancreas disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pancreatic disease" RELATED [MESH:D010182]
synonym: "pancreatic disorder" EXACT [NCIT:C26842]
xref: DOID:26 {source="MONDO:equivalentTo"}
xref: EFO:0009605 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K80-K87 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K86.8 {source="DOID:26"}
xref: ICD9:577.8 {source="DOID:26"}
xref: ICD9:577.9
xref: MEDGEN:14583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010182 {source="MONDO:equivalentTo"}
xref: NCIT:C26842 {source="MONDO:equivalentTo"}
xref: SCTID:197566002 {source="DOID:26"}
xref: SCTID:3855007 {source="MONDO:equivalentTo"}
xref: UMLS:C0030286 {source="MONDO:equivalentTo", source="MEDGEN:14583", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="NCIT:C26842"} ! digestive system disorder
is_a: MONDO:0005151 {source="DOID:26"} ! endocrine system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0002357
name: hepatic flexure cancer
def: "A malignant neoplasm involving the hepatic flexure of colon." [https://orcid.org/0000-0002-6601-2165]
synonym: "Ca hepatic flexure - colon" EXACT [DOID:260]
synonym: "cancer of hepatic flexure of colon" EXACT [MONDO:patterns/cancer]
synonym: "hepatic flexure of colon cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hepatic flexure of colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of hepatic flexure" EXACT [DOID:260, ICD9CM:153.0]
synonym: "malignant neoplasm of hepatic flexure of colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of hepatic flexure" EXACT [DOID:260]
synonym: "malignant tumour of hepatic flexure" EXACT OMO:0003005 []
xref: DOID:260 {source="MONDO:equivalentTo"}
xref: ICD10CM:C18.3 {source="DOID:260"}
xref: ICD9:153.0 {source="DOID:260", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154455006 {source="DOID:260"}
xref: SCTID:269534006 {source="DOID:260"}
xref: SCTID:363407001 {source="DOID:260", source="MONDO:equivalentTo"}
xref: SCTID:93826009 {source="DOID:260"}
xref: UMLS:C0153433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509289"}
is_a: MONDO:0002238 {source="DOID:260"} ! ascending colon cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0022277 ! hepatic flexure of colon

[Term]
id: MONDO:0002358
name: laryngeal carcinoma
def: "Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation." [NCIT:C4855]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of larynx" BROAD [DOID:2600, NCIT:C4855]
synonym: "cancer of the larynx" BROAD [NCIT:C4855]
synonym: "carcinoma of larynx" EXACT [MONDO:patterns/carcinoma, NCIT:C4855]
synonym: "carcinoma of the larynx" EXACT [NCIT:C4855]
synonym: "laryngeal cancer" BROAD [NCIT:C4855]
synonym: "laryngeal carcinoma" EXACT [NCIT:C4855]
synonym: "laryngeal throat cancer" BROAD [NCIT:C4855]
synonym: "larynx carcinoma" EXACT [MONDO:patterns/location, NCIT:C4855]
xref: DOID:2600 {source="MONDO:equivalentTo"}
xref: MEDGEN:108889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4855 {source="DOID:2600", source="MONDO:equivalentTo"}
xref: SCTID:154480006 {source="DOID:2600"}
xref: SCTID:276975007 {source="DOID:2600", source="MONDO:equivalentTo"}
xref: SCTID:93859007 {source="DOID:2600"}
xref: UMLS:C0595989 {source="MEDGEN:108889", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002352 {source="DOID:2600", source="MONDO:Redundant", source="NCIT:C4855"} ! larynx cancer
is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C4855/inferred"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0002359
name: periosteal chondroma
def: "A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification." [NCIT:C4302]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juxtacortical chondroma" EXACT [NCIT:C4302]
synonym: "juxtacortical chondroma (morphologic abnormality)" EXACT [DOID:2601]
synonym: "periosteal chondroma" EXACT [DOID:2601, NCIT:C4302]
xref: DOID:2601 {source="MONDO:equivalentTo"}
xref: ICDO:9221/0 {source="NCIT:C4302"}
xref: MEDGEN:87260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4302 {source="MONDO:equivalentTo", source="DOID:2601"}
xref: SCTID:9266000 {source="DOID:2601"}
xref: UMLS:C0334548 {source="MONDO:equivalentTo", source="MEDGEN:87260", source="MONDO:MEDGEN"}
is_a: MONDO:0000631 {source="NCIT:C4302"} ! bone benign neoplasm
is_a: MONDO:0002360 {source="DOID:2601", source="MONDO:Redundant", source="NCIT:C4302"} ! chondroma
intersection_of: MONDO:0002360 {source="NCIT:C4302"} ! chondroma
intersection_of: disease_arises_from_structure UBERON:0002515 {source="NCIT:C4302"} ! periosteum
intersection_of: disease_has_location UBERON:0007844 {source="NCIT:C4302"} ! cartilage element

[Term]
id: MONDO:0002360
name: chondroma
def: "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes." [NCIT:C53459]
subset: otar {source="MONDO:OTAR"}
synonym: "central chondroma" EXACT [DOID:2602, NCIT:C3007]
synonym: "chondroma" EXACT [NCIT:C53459]
synonym: "chondroma, benign" EXACT [NCIT:C53459]
xref: DOID:2602 {source="MONDO:equivalentTo"}
xref: ICDO:9220/0 {source="NCIT:C53459"}
xref: MEDGEN:181701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002812 {source="MONDO:equivalentTo", source="DOID:2602"}
xref: NCIT:C53459 {source="MONDO:equivalentTo", source="DOID:2602"}
xref: SCTID:154611005 {source="DOID:2602"}
xref: SCTID:187899007 {source="DOID:2602"}
xref: SCTID:188980001 {source="DOID:2602"}
xref: SCTID:189885004 {source="DOID:2602"}
xref: SCTID:269638002 {source="DOID:2602"}
xref: SCTID:31186001 {source="DOID:2602"}
xref: UMLS:C0936248 {source="MEDGEN:181701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005165 {source="DOID:2602", source="DOID:2602/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! benign neoplasm
is_a: MONDO:0024470 {source="NCIT:C53459"} ! benign chondrogenic neoplasm
relationship: disease_arises_from_structure CL:0000138 {source="NCIT:C53459"} ! chondrocyte
relationship: disease_has_location UBERON:0001994 ! hyaline cartilage tissue
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6052/chondroma" xsd:anyURI {source="GARD:0006052"}

[Term]
id: MONDO:0002361
name: transverse colon cancer
def: "A malignant neoplasm involving the transverse colon." [https://orcid.org/0000-0002-6601-2165]
synonym: "Ca transverse colon" EXACT [DOID:261]
synonym: "cancer of transverse colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of transverse colon" EXACT [MONDO:patterns/cancer]
synonym: "malignant transverse colon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of transverse colon" EXACT [DOID:261]
synonym: "malignant tumour of transverse colon" EXACT OMO:0003005 []
synonym: "transverse colon cancer" EXACT [MONDO:patterns/location]
xref: DOID:261 {source="MONDO:equivalentTo"}
xref: ICD10CM:C18.4 {source="DOID:261"}
xref: ICD9:153.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:261"}
xref: MEDGEN:509290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154456007 {source="DOID:261"}
xref: SCTID:269535007 {source="DOID:261"}
xref: SCTID:363408006 {source="MONDO:equivalentTo", source="DOID:261"}
xref: SCTID:94105000 {source="DOID:261"}
xref: UMLS:C0153434 {source="MEDGEN:509290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021063 {source="DOID:261", source="MONDO:Redundant"} ! malignant colon neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001157 ! transverse colon

[Term]
id: MONDO:0002362
name: serous surface papilloma
def: "A non-invasive papillary serous epithelial neoplasm usually arising from the ovary." [NCIT:C4181]
synonym: "serous surface papilloma" EXACT [DOID:2614, NCIT:C4181]
synonym: "serous surface papilloma (morphologic abnormality)" EXACT [DOID:2614]
synonym: "serous surface papilloma NOS (morphologic abnormality)" EXACT [DOID:2614]
xref: DOID:2614 {source="MONDO:equivalentTo"}
xref: ICDO:8461/0 {source="NCIT:C4181"}
xref: MEDGEN:90770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4181 {source="MONDO:equivalentTo", source="DOID:2614", source="MONDO:exact-label-match"}
xref: SCTID:189689007 {source="DOID:2614"}
xref: SCTID:67073007 {source="DOID:2614"}
xref: UMLS:C0334360 {source="MEDGEN:90770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002363 {source="DOID:2614", source="NCIT:C4181"} ! papilloma
relationship: disease_arises_from_structure CL:0000313 ! serous secreting cell

[Term]
id: MONDO:0002363
name: papilloma
def: "A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C7440]
subset: otar {source="MONDO:OTAR"}
synonym: "papilloma" EXACT [NCIT:C7440]
synonym: "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)" EXACT [DOID:2615]
synonym: "papilloma, benign" EXACT [NCIT:C7440]
synonym: "papillomatosis" RELATED EXCLUDE [DOID:2615]
synonym: "papillomatosis NOS (morphologic abnormality)" RELATED [DOID:2615]
synonym: "papillomatosis, NOS" RELATED EXCLUDE [DOID:2615]
xref: DOID:2615 {source="MONDO:equivalentTo"}
xref: ICDO:8050/0 {source="NCIT:C7440"}
xref: MEDGEN:10566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010212 {source="MONDO:equivalentTo", source="DOID:2615"}
xref: NCIT:C3713 {source="DOID:2615", source="MONDO:directSiblingOf"}
xref: NCIT:C7440 {source="MONDO:equivalentTo", source="DOID:2615"}
xref: SCTID:189564006 {source="DOID:2615"}
xref: SCTID:23730008 {source="DOID:2615"}
xref: SCTID:711329002 {source="MONDO:equivalentTo", source="DOID:2615"}
xref: SCTID:82049002 {source="DOID:2615"}
xref: UMLS:C0030354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10566"}
is_a: MONDO:0005165 {source="DOID:2615", source="DOID:2615/inferred"} ! benign neoplasm
is_a: MONDO:0021096 {source="NCIT:C7440"} ! papillary epithelial neoplasm

[Term]
id: MONDO:0002364
name: obsolete Wolffian duct adenoma
is_obsolete: true
replaced_by: MONDO:0024889

[Term]
id: MONDO:0002365
name: kidney hemangiopericytoma
def: "A hemangiopericytoma arising from the kidney." [NCIT:P378]
synonym: "hemangiopericytoma of kidney" EXACT [NCIT:C4527]
synonym: "hemangiopericytoma of the kidney" EXACT [NCIT:C4527]
synonym: "kidney hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "kidney spindle cell tumor" EXACT [MONDO:patterns/location]
synonym: "kidney spindle cell tumour" EXACT OMO:0003005 []
synonym: "renal hemangiopericytoma" EXACT [DOID:262, NCIT:C4527]
xref: DOID:262 {source="MONDO:equivalentTo"}
xref: MEDGEN:138048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4527 {source="MONDO:equivalentTo", source="DOID:262"}
xref: SCTID:254923001 {source="MONDO:equivalentTo", source="DOID:262"}
xref: UMLS:C0346256 {source="MEDGEN:138048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005094 {source="DOID:262", source="MONDO:Redundant", source="NCIT:C4527"} ! hemangiopericytoma
intersection_of: MONDO:0005094 ! hemangiopericytoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0002366
name: autonomic nervous system neoplasm
def: "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system." [NCIT:C5112]
synonym: "autonomic nervous system neoplasm" EXACT [NCIT:C5112]
synonym: "autonomic nervous system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "autonomic nervous system neoplasms" EXACT [NCIT:C5112]
synonym: "autonomic nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5112]
synonym: "autonomic nervous system tumour" EXACT OMO:0003005 []
synonym: "neoplasm of autonomic nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C5112]
synonym: "neoplasm of the autonomic nervous system" EXACT [NCIT:C5112]
synonym: "tumor of autonomic nervous system" EXACT [DOID:2621, MONDO:patterns/neoplasm, NCIT:C5112]
synonym: "tumor of the autonomic nervous system" EXACT [NCIT:C5112]
synonym: "tumour of autonomic nervous system" EXACT OMO:0003005 []
synonym: "tumour of the autonomic nervous system" EXACT OMO:0003005 []
xref: DOID:2621 {source="MONDO:equivalentTo"}
xref: MEDGEN:231389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5112 {source="MONDO:equivalentTo", source="DOID:2621", source="MONDO:exact-label-match"}
xref: UMLS:C1332356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231389"}
is_a: MONDO:0001406 {source="DOID:2621", source="MONDO:Redundant", source="NCIT:C5112"} ! peripheral nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002410 ! autonomic nervous system

[Term]
id: MONDO:0002367
name: kidney cancer
def: "Primary or metastatic malignant neoplasm involving the kidney." [NCIT:C7548]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of kidney" EXACT [MONDO:patterns/cancer]
synonym: "kidney cancer" EXACT [MONDO:patterns/location]
synonym: "malignant kidney neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7548]
synonym: "malignant kidney tumor" EXACT [NCIT:C7548]
synonym: "malignant kidney tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of kidney" EXACT [MONDO:patterns/cancer, NCIT:C7548]
synonym: "malignant neoplasm of kidney except pelvis" EXACT [DOID:263]
synonym: "malignant neoplasm of the kidney" EXACT [NCIT:C7548]
synonym: "malignant renal neoplasm" EXACT [NCIT:C7548]
synonym: "malignant renal tumor" EXACT [NCIT:C7548]
synonym: "malignant renal tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of kidney" EXACT [DOID:263, NCIT:C7548]
synonym: "malignant tumor of the kidney" EXACT [NCIT:C7548]
synonym: "malignant tumour of kidney" EXACT OMO:0003005 []
synonym: "malignant tumour of the kidney" EXACT OMO:0003005 []
synonym: "renal cancer" RELATED EXCLUDE [DOID:263]
xref: DOID:263 {source="MONDO:equivalentTo"}
xref: ICD10CM:C64 {source="DOID:263"}
xref: ICD9:189.0 {source="DOID:263"}
xref: MEDGEN:149263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007680 {source="MONDO:equivalentTo", source="DOID:263"}
xref: NCIT:C120456 {source="DOID:263"}
xref: NCIT:C3150 {source="DOID:263"}
xref: NCIT:C7548 {source="MONDO:equivalentTo", source="DOID:263"}
xref: SCTID:126880001 {source="DOID:263"}
xref: SCTID:154542008 {source="DOID:263"}
xref: SCTID:188249002 {source="DOID:263"}
xref: SCTID:363518003 {source="MONDO:equivalentTo", source="DOID:263"}
xref: SCTID:93849006 {source="DOID:263"}
xref: UMLS:C0740457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:149263"}
is_a: MONDO:0006295 {source="DOID:263", source="MONDO:Redundant", source="NCIT:C7548"} ! malignant urinary system neoplasm
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C7548"} ! kidney neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0002368
name: papillary serous cystadenocarcinoma
def: "A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." [NCIT:C8377]
subset: otar {source="MONDO:OTAR"}
synonym: "micropapillary serous carcinoma" NARROW [DOID:2632, NCIT:C6882]
synonym: "papillary serous adenocarcinoma" EXACT [NCIT:C8377]
synonym: "papillary serous carcinoma" BROAD [DOID:2632, NCIT:C8377]
synonym: "papillary serous cystadenocarcinoma" EXACT [NCIT:C8377]
synonym: "serous surface papillary carcinoma" RELATED EXCLUDE [DOID:2632]
synonym: "serous surface papillary carcinoma (morphologic abnormality)" EXACT [DOID:2632]
xref: DOID:2632 {source="MONDO:equivalentTo"}
xref: ICDO:8460/3 {source="NCIT:C8377"}
xref: MEDGEN:825029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8377 {source="MONDO:equivalentTo", source="DOID:2632"}
xref: SCTID:15674004 {source="DOID:2632"}
xref: SCTID:716649003 {source="MONDO:equivalentTo"}
xref: SCTID:90282004 {source="DOID:2632"}
xref: UMLS:C3839184 {source="MEDGEN:825029", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002512 {source="DOID:2632", source="MONDO:Redundant", source="NCIT:C8377/inferred"} ! papillary adenocarcinoma
is_a: MONDO:0005074 {source="MONDO:Redundant", source="NCIT:C8377"} ! papillary cystadenocarcinoma
is_a: MONDO:0024621 {source="MONDO:Redundant", source="NCIT:C8377"} ! serous cystadenocarcinoma
intersection_of: MONDO:0005074 {source="NCIT:C8377"} ! papillary cystadenocarcinoma
intersection_of: MONDO:0024621 {source="NCIT:C8377"} ! serous cystadenocarcinoma

[Term]
id: MONDO:0002369
name: cystadenoma
def: "A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas." [NCIT:C2972]
subset: otar {source="MONDO:OTAR"}
synonym: "cystadenoma" EXACT [NCIT:C2972]
synonym: "cystadenoma (morphologic abnormality)" EXACT [DOID:2634]
synonym: "cystadenoma, benign" EXACT [NCIT:C2972]
synonym: "cystoma" EXACT [DOID:2634, NCIT:C2972]
xref: DOID:2634 {source="MONDO:equivalentTo"}
xref: ICDO:8440/0 {source="NCIT:C2972"}
xref: MEDGEN:8221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003537 {source="MONDO:equivalentTo", source="DOID:2634"}
xref: NCIT:C2972 {source="MONDO:equivalentTo", source="DOID:2634", source="MONDO:exact-label-match"}
xref: SCTID:189680006 {source="DOID:2634"}
xref: SCTID:47620003 {source="DOID:2634"}
xref: UMLS:C0010633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8221"}
is_a: MONDO:0004972 {source="DOID:2634", source="MESH:D003537"} ! adenoma
is_a: MONDO:0021077 {source="NCIT:C2972"} ! cystic neoplasm
is_a: MONDO:0024276 {source="NCIT:C2972"} ! glandular cell neoplasm
relationship: disease_arises_from_structure UBERON:0006799 {source="NCIT:C2972"} ! glandular epithelium

[Term]
id: MONDO:0002370
name: ovarian Brenner tumor
def: "A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature." [NCIT:C3872]
synonym: "benign ovarian Brenner tumor" NARROW [DOID:2636]
synonym: "benign ovarian Brenner tumour" NARROW OMO:0003005 []
synonym: "Brenner neoplasm of ovary" EXACT [NCIT:C3872]
synonym: "Brenner neoplasm of the ovary" EXACT [NCIT:C3872]
synonym: "Brenner tumor" BROAD [NCIT:C3872]
synonym: "Brenner tumor of ovary" EXACT [NCIT:C3872]
synonym: "Brenner tumor of the ovary" EXACT [NCIT:C3872]
synonym: "Brenner tumour" BROAD OMO:0003005 []
synonym: "Brenner tumour of ovary" EXACT OMO:0003005 []
synonym: "Brenner tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian Brenner neoplasm" EXACT [NCIT:C3872]
synonym: "ovarian Brenner tumor" EXACT [NCIT:C3872]
synonym: "ovary Brenner tumor" EXACT [MONDO:patterns/location]
synonym: "ovary Brenner tumour" EXACT OMO:0003005 []
xref: DOID:2636 {source="MONDO:equivalentTo"}
xref: MEDGEN:1716777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001948 {source="DOID:2636"}
xref: NCIT:C3872 {source="MONDO:equivalentTo", source="DOID:2636"}
xref: NCIT:C39954 {source="DOID:2636"}
xref: SCTID:189818009 {source="DOID:2636"}
xref: SCTID:189819001 {source="DOID:2636"}
xref: SCTID:254859006 {source="MONDO:equivalentTo", source="DOID:2636"}
xref: SCTID:74739000 {source="DOID:2636"}
xref: UMLS:C5234884 {source="MEDGEN:1716777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021068 {source="MONDO:Entailed", source="NCIT:C3872/inferred"} ! ovarian neoplasm
is_a: MONDO:0024235 {source="MONDO:Redundant", source="NCIT:C3872"} ! Brenner tumor
intersection_of: MONDO:0024235 ! Brenner tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary
relationship: disease_has_location UBERON:0000992 ! ovary
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0002371
name: breast pericanalicular fibroadenoma
def: "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures." [NCIT:C4272]
synonym: "breast pericanalicular fibroadenoma" EXACT [NCIT:C4272]
synonym: "pericanalicular breast fibroadenoma" EXACT [NCIT:C4272]
synonym: "pericanalicular fibroadenoma" EXACT [NCIT:C4272]
synonym: "pericanalicular fibroadenoma (morphologic abnormality)" EXACT [DOID:2639]
synonym: "pericanalicular fibroadenoma of breast" EXACT [DOID:2639, NCIT:C4272]
synonym: "pericanalicular fibroadenoma of the breast" EXACT [NCIT:C4272]
xref: DOID:2639 {source="MONDO:equivalentTo"}
xref: ICDO:9012/0 {source="NCIT:C4272"}
xref: MEDGEN:90794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4272 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2639"}
xref: SCTID:41382006 {source="DOID:2639"}
xref: UMLS:C0334497 {source="MEDGEN:90794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002056 {source="DOID:2639", source="NCIT:C4272"} ! breast fibroadenoma

[Term]
id: MONDO:0002372
name: ovarian monodermal and highly specialized teratoma
def: "A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue." [NCIT:C8113]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian germ cell monodermal and highly specialised teratoma" EXACT OMO:0003005 []
synonym: "ovarian germ cell monodermal and highly specialized teratoma" EXACT [NCIT:C8113]
synonym: "ovarian monodermal and highly specialized teratoma" EXACT [DOID:2641, NCIT:C8113]
xref: DOID:2641 {source="MONDO:equivalentTo"}
xref: MEDGEN:83601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8113 {source="DOID:2641", source="MONDO:equivalentTo"}
xref: UMLS:C0280134 {source="MEDGEN:83601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003331 {source="DOID:2641", source="NCIT:C8113"} ! ovarian monodermal teratoma

[Term]
id: MONDO:0002373
name: benign mesothelioma
def: "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body." [PMID:30285380]
synonym: "benign tumor of mesothelial tissue" EXACT []
synonym: "benign tumor of mesothelium" EXACT [DOID:2645, NCIT:C4280]
synonym: "benign tumour of mesothelial tissue" EXACT OMO:0003005 []
synonym: "benign tumour of mesothelium" EXACT OMO:0003005 []
synonym: "mesothelioma, benign" EXACT [MONDO:patterns/benign]
xref: DOID:2645 {source="MONDO:equivalentTo"}
xref: ICD10CM:C45 {source="MONDO:relatedTo", source="DOID:2645"}
xref: ICD10CM:C45.9 {source="DOID:2645"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:578420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008654 {source="MONDO:relatedTo", source="DOID:2645"}
xref: NCIT:C3234 {source="MONDO:relatedTo", source="DOID:2645"}
xref: SCTID:154491004 {source="DOID:2645"}
xref: SCTID:187873000 {source="DOID:2645"}
xref: SCTID:189837000 {source="DOID:2645"}
xref: SCTID:190110008 {source="DOID:2645"}
xref: SCTID:254825007 {source="MONDO:equivalentTo"}
xref: SCTID:62064005 {source="DOID:2645"}
xref: UMLS:C0348424 {source="MEDGEN:578420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005165 {source="DOID:2645", source="DOID:2645/inferred", source="MONDO:Redundant"} ! benign neoplasm
intersection_of: MONDO:0005065 ! mesothelioma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0002374
name: obsolete parachordoma
is_obsolete: true
replaced_by: MONDO:0006351

[Term]
id: MONDO:0002375
name: sebaceous adenoma
def: "A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells." [NCIT:C4174]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of sebaceous gland" EXACT [NCIT:C4174]
synonym: "adenoma of the sebaceous gland" EXACT [DOID:2648, NCIT:C4174]
synonym: "adenoma, sebaceous, benign" EXACT [NCIT:C4174]
synonym: "sebaceous adenoma (morphologic abnormality)" EXACT [DOID:2648]
synonym: "sebaceous gland adenoma" EXACT [MONDO:patterns/location]
synonym: "skin appendage sebaceous adenoma" EXACT [DOID:2648]
xref: DOID:2648 {source="MONDO:equivalentTo"}
xref: ICDO:8410/0 {source="NCIT:C4174"}
xref: MEDGEN:237152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4174 {source="MONDO:equivalentTo", source="DOID:2648", source="MONDO:exact-label-match"}
xref: SCTID:78424008 {source="DOID:2648"}
xref: UMLS:C1368816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237152"}
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C4174/inferred"} ! adenoma
is_a: MONDO:0006963 {source="DOID:2648", source="MONDO:Redundant", source="NCIT:C4174/inferred"} ! sebaceous gland neoplasm
is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C4174/inferred"} ! epithelial skin neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland

[Term]
id: MONDO:0002376
name: spleen angiosarcoma
def: "A malignant vascular neoplasm arising from the spleen." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiosarcoma (disease) of spleen" EXACT []
synonym: "angiosarcoma of spleen" EXACT [NCIT:C4564]
synonym: "angiosarcoma of the spleen" EXACT [NCIT:C4564]
synonym: "hemangiosarcoma of spleen" EXACT [NCIT:C4564]
synonym: "hemangiosarcoma of the spleen" EXACT [NCIT:C4564]
synonym: "spleen angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "splenic angiosarcoma" EXACT [NCIT:C4564]
synonym: "splenic hemangiosarcoma" EXACT [DOID:265, NCIT:C4564]
xref: DOID:265 {source="MONDO:equivalentTo"}
xref: ICD9:159.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4564 {source="MONDO:equivalentTo", source="DOID:265"}
xref: SCTID:187821001 {source="MONDO:equivalentTo", source="DOID:265"}
xref: UMLS:C0346424 {source="MONDO:equivalentTo", source="MEDGEN:83426", source="MONDO:MEDGEN"}
is_a: MONDO:0005966 {source="DOID:265", source="MONDO:Redundant", source="NCIT:C4564/inferred"} ! spleen cancer
is_a: MONDO:0016982 {source="DOID:265", source="MONDO:Redundant", source="NCIT:C4564/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0002377
name: breast intracanalicular fibroadenoma
def: "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells." [NCIT:C4271]
synonym: "breast intracanalicular fibroadenoma" EXACT [NCIT:C4271]
synonym: "intracanalicular breast fibroadenoma" EXACT [NCIT:C4271]
synonym: "intracanalicular fibroadenoma" EXACT [NCIT:C4271]
synonym: "intracanalicular fibroadenoma of breast" EXACT [NCIT:C4271]
synonym: "intracanalicular fibroadenoma of the breast" EXACT [NCIT:C4271]
xref: DOID:2656 {source="MONDO:equivalentTo"}
xref: ICDO:9011/0 {source="NCIT:C4271"}
xref: MEDGEN:137772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4271 {source="MONDO:equivalentTo", source="DOID:2656", source="MONDO:exact-label-match"}
xref: SCTID:189821006 {source="DOID:2656"}
xref: SCTID:72905006 {source="DOID:2656"}
xref: UMLS:C0334496 {source="MEDGEN:137772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002056 {source="DOID:2656", source="NCIT:C4271"} ! breast fibroadenoma

[Term]
id: MONDO:0002378
name: dermoid cyst
def: "A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin." [NCIT:C9011]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "benign cystic teratoma" EXACT [NCIT:C9011]
synonym: "cystic dermoid choristoma" EXACT [DOID:2658]
synonym: "dermoid" EXACT [NCIT:C9011]
synonym: "dermoid choristoma" EXACT [DOID:2658]
synonym: "dermoid cyst" EXACT [NCIT:C9011]
synonym: "dermoid cyst, benign" EXACT [NCIT:C9011]
synonym: "dermoid tumor" EXACT [DOID:2658, NCIT:C9011]
synonym: "dermoid tumour" EXACT OMO:0003005 []
synonym: "mature cystic teratoma" EXACT [DOID:2658, NCIT:C9011]
synonym: "subcutaneous cystic teratoma" EXACT [NCIT:C9011]
synonym: "teratoma, benign" RELATED [DOID:2658]
synonym: "teratoma, benign (morphologic abnormality)" RELATED [DOID:2658]
xref: DOID:2658 {source="MONDO:equivalentTo"}
xref: ICD10CM:K09.8 {source="DOID:2658"}
xref: ICDO:9084/0 {source="NCIT:C9011"}
xref: MEDGEN:41504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003884 {source="MONDO:equivalentTo", source="DOID:2658"}
xref: NCIT:C9011 {source="MONDO:equivalentTo", source="DOID:2658", source="MONDO:exact-label-match"}
xref: SCTID:123151001 {source="DOID:2658"}
xref: SCTID:189117002 {source="DOID:2658"}
xref: SCTID:189845005 {source="DOID:2658"}
xref: SCTID:269641006 {source="DOID:2658"}
xref: SCTID:416529009 {source="DOID:2658"}
xref: SCTID:417137001 {source="DOID:2658"}
xref: SCTID:417609007 {source="DOID:2658"}
xref: SCTID:419952004 {source="DOID:2658"}
xref: SCTID:439575008 {source="DOID:2658"}
xref: SCTID:441459009 {source="MONDO:equivalentTo"}
xref: SCTID:72277008 {source="DOID:2658"}
xref: UMLS:C0011649 {source="MEDGEN:41504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002379 {source="DOID:2658", source="NCIT:C9011"} ! cystic teratoma

[Term]
id: MONDO:0002379
name: cystic teratoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cystic teratoma" EXACT [NCIT:C9014]
xref: DOID:2660 {source="MONDO:equivalentTo"}
xref: MEDGEN:234578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9014 {source="DOID:2660", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:42717009 {source="DOID:2660"}
xref: UMLS:C1368903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234578"}
is_a: MONDO:0002601 {source="DOID:2660", source="MONDO:Redundant", source="NCIT:C9014"} ! teratoma
intersection_of: MONDO:0002601 ! teratoma
intersection_of: has_characteristic PATO:0001673 ! cystic

[Term]
id: MONDO:0002380
name: myoepithelial tumor
def: "A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C40392]
subset: otar {source="MONDO:OTAR"}
synonym: "benign myoepithelioma" NARROW [DOID:2661, NCIT:C7442]
synonym: "myoepithelial adenoma" EXACT [DOID:2661]
synonym: "myoepithelial neoplasm" EXACT [DOID:2661, NCIT:C40392]
synonym: "myoepithelial tumor" EXACT [NCIT:C40392]
synonym: "myoepithelioma" EXACT [NCIT:C40392]
xref: DOID:2661 {source="MONDO:equivalentTo"}
xref: ICDO:8982/0 {source="NCIT:C40392"}
xref: ICDO:8982/1 {source="NCIT:C40392"}
xref: MEDGEN:10235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009208 {source="DOID:2661", source="MONDO:equivalentTo"}
xref: NCIT:C40392 {source="DOID:2661", source="MONDO:equivalentTo"}
xref: SCTID:69291002 {source="DOID:2661"}
xref: UMLS:C0027070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10235"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000185 ! myoepithelial cell
relationship: disease_arises_from_structure CL:0000185 {source="NCIT:C40392"} ! myoepithelial cell

[Term]
id: MONDO:0002381
name: sweat gland neoplasm
alt_id: MONDO:0021219
def: "A benign or malignant neoplasm arising from the sweat glands." [NCIT:C3398]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of sweat gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3398]
synonym: "neoplasm of the sweat gland" EXACT [NCIT:C3398]
synonym: "sweat gland neoplasm" EXACT [NCIT:C3398]
synonym: "sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sweat gland neoplasms" EXACT [NCIT:C3398]
synonym: "sweat gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3398]
synonym: "sweat gland tumor (morphologic abnormality)" EXACT [DOID:2664]
synonym: "sweat gland tumor NOS (morphologic abnormality)" EXACT [DOID:2664]
synonym: "sweat gland tumour" EXACT OMO:0003005 []
synonym: "sweat gland tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "sweat gland tumour NOS (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "tumor of sweat gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3398]
synonym: "tumor of the sweat gland" EXACT [DOID:2664, NCIT:C3398]
synonym: "tumour of sweat gland" EXACT OMO:0003005 []
synonym: "tumour of the sweat gland" EXACT OMO:0003005 []
xref: DOID:2664 {source="MONDO:equivalentTo"}
xref: EFO:1001204 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8400/1 {source="NCIT:C3398"}
xref: MEDGEN:21039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013544 {source="DOID:2664", source="MONDO:equivalentTo"}
xref: NCIT:C3398 {source="DOID:2664", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126490003 {source="DOID:2664", source="MONDO:equivalentTo"}
xref: SCTID:12933008 {source="DOID:2664"}
xref: SCTID:189665000 {source="DOID:2664"}
xref: UMLS:C0038987 {source="MEDGEN:21039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002297 {source="NCIT:C3398"} ! epidermal appendage tumor
is_a: MONDO:0002531 {source="DOID:2664", source="EFO:1001204", source="MESH:D013544", source="MONDO:Redundant", source="NCIT:C3398/inferred"} ! skin neoplasm
is_a: MONDO:0006615 {source="DOID:2664", source="MESH:D013544", source="MONDO:Redundant"} ! sweat gland disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001820 ! sweat gland

[Term]
id: MONDO:0002382
name: benign mesenchymoma
def: "A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:P378]
synonym: "mesenchymal tumor, benign" EXACT [NCIT:C4267]
synonym: "mesenchymoma, benign" EXACT [MONDO:patterns/benign]
synonym: "mesenchymoma, benign (morphologic abnormality)" EXACT [DOID:2667]
xref: DOID:2667 {source="MONDO:equivalentObsolete"}
xref: ICDO:8990/0 {source="NCIT:C4267"}
xref: MEDGEN:87251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4267 {source="MONDO:equivalentTo", source="DOID:2667"}
xref: SCTID:38406003 {source="DOID:2667"}
xref: UMLS:C0334491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87251"}
is_a: MONDO:0006854 {source="DOID:2667", source="MONDO:Redundant", source="NCIT:C4267"} ! mesenchymoma
intersection_of: MONDO:0006854 ! mesenchymoma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0002383
name: Pacinian tumor
def: "A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Pacinian neurofibroma" EXACT [DOID:2669, NCIT:C4328]
synonym: "Pacinian tumor (morphologic abnormality)" EXACT [DOID:2669]
synonym: "Pacinian tumour (morphologic abnormality)" EXACT OMO:0003005 []
xref: DOID:2669 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9507/0 {source="NCIT:C4328"}
xref: MEDGEN:87273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4328 {source="MONDO:equivalentTo", source="DOID:2669"}
xref: SCTID:404033003 {source="MONDO:equivalentTo", source="DOID:2669"}
xref: SCTID:4230004 {source="DOID:2669"}
xref: UMLS:C0334599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87273"}
is_a: MONDO:0016755 {source="DOID:2669", source="NCIT:C4328"} ! neurofibroma

[Term]
id: MONDO:0002384
name: obsolete transitional cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006474

[Term]
id: MONDO:0002385
name: benign cystic nephroma
def: "A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." [NCIT:C7504]
synonym: "benign cystic nephroma" EXACT [NCIT:C7504]
synonym: "benign multilocular cystic nephroma" EXACT [Wikipedia:Cystic_nephroma]
synonym: "cystic nephroma" EXACT [NCIT:C7504]
xref: DOID:2673 {source="MONDO:equivalentTo"}
xref: ICDO:8959/0 {source="NCIT:C7504"}
xref: MEDGEN:220422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7504 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1266138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220422"}
is_a: MONDO:0002513 {source="DOID:2673", source="NCIT:C7504"} ! kidney benign neoplasm

[Term]
id: MONDO:0002386
name: mixed epithelial stromal tumor of the kidney
def: "A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." [NCIT:C37263]
synonym: "adult mesoblastic nephroma" RELATED [NCIT:C37263]
synonym: "benign MEST" EXACT [DOID:2678, NCIT:C37264]
synonym: "MEST" EXACT ABBREVIATION [DOID:2678, NCIT:C37263]
synonym: "mixed epithelial and stromal tumor of kidney" EXACT [DOID:2678]
synonym: "mixed epithelial and stromal tumour of kidney" EXACT OMO:0003005 []
synonym: "mixed epithelial stromal tumor of the kidney" EXACT [NCIT:C37263]
xref: DOID:2678 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:220870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37263 {source="MONDO:equivalentTo", source="DOID:2678"}
xref: NCIT:C37264 {source="DOID:2678"}
xref: SCTID:388985009 {source="DOID:2678"}
xref: UMLS:C1272677 {source="MONDO:equivalentTo", source="MEDGEN:220870", source="MONDO:MEDGEN"}
is_a: MONDO:0021043 {source="NCIT:C37263"} ! mixed neoplasm
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C37263"} ! kidney neoplasm
intersection_of: MONDO:0003272 ! mixed epithelial stromal tumor
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0002387
name: liver angiosarcoma
def: "A malignant vascular neoplasm arising from the liver." [NCIT:C4438]
subset: gard_rare {source="GARD:5813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "angiosarcoma (disease) of liver" EXACT []
synonym: "angiosarcoma of liver" EXACT [DOID:268, NCIT:C4438]
synonym: "angiosarcoma of the liver" EXACT [GARD:0005813, NCIT:C4438]
synonym: "hemangiosarcoma of liver" EXACT [NCIT:C4438]
synonym: "hemangiosarcoma of the liver" EXACT [DOID:268, NCIT:C4438]
synonym: "hepatic angiosarcoma" EXACT [NCIT:C4438]
synonym: "hepatic hemangiosarcoma" EXACT [NCIT:C4438]
synonym: "Lias" RELATED [ONCOTREE:LIAS]
synonym: "liver angiosarcoma" EXACT [NCIT:C4438]
synonym: "liver angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "liver hemangiosarcoma" EXACT [NCIT:C4438]
synonym: "primary angiosarcoma of liver" EXACT [NCIT:C4438]
synonym: "primary angiosarcoma of the liver" EXACT [NCIT:C4438]
xref: DOID:268 {source="MONDO:equivalentTo"}
xref: GARD:5813 {source="MONDO:GARD"}
xref: ICD10CM:C22.3 {source="MONDO:equivalentTo", source="DOID:268"}
xref: ICDO:9124/3 {source="NCIT:C4438"}
xref: MEDGEN:138027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4438 {source="MONDO:equivalentTo", source="DOID:268"}
xref: ONCOTREE:LIAS {source="MONDO:equivalentTo"}
xref: SCTID:109844006 {source="MONDO:equivalentTo", source="DOID:268"}
xref: SCTID:187770005 {source="DOID:268"}
xref: UMLS:C0345907 {source="MEDGEN:138027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002397 {source="DOID:268", source="MONDO:Redundant", source="NCIT:C4438"} ! liver sarcoma
is_a: MONDO:0002405 {source="NCIT:C4438"} ! hepatic vascular disorder
is_a: MONDO:0016982 {source="DOID:268", source="MONDO:Redundant", source="NCIT:C4438/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0002107 ! liver
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver" xsd:anyURI {source="GARD:0005813"}

[Term]
id: MONDO:0002388
name: intracystic papillary adenoma
def: "A papillary epithelial neoplasm arising in a cystically dilated breast duct." [NCIT:P378]
synonym: "intracystic papillary adenoma" EXACT [NCIT:C4191]
synonym: "intracystic papillary adenoma (morphologic abnormality)" EXACT [DOID:2682]
synonym: "intracystic papilloma" EXACT [DOID:2682, NCIT:C4191]
xref: DOID:2682 {source="MONDO:equivalentTo"}
xref: ICDO:8504/0 {source="NCIT:C4191"}
xref: MEDGEN:87229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4191 {source="DOID:2682", source="MONDO:equivalentObsolete"}
xref: SCTID:47488001 {source="DOID:2682"}
xref: UMLS:C0334374 {source="MEDGEN:87229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002363 {source="DOID:2682", source="MONDO:Redundant", source="NCIT:C4191/inferred"} ! papilloma
is_a: MONDO:0021097 {source="NCIT:C4191"} ! intraductal breast papilloma

[Term]
id: MONDO:0002389
name: obsolete adenofibroma
is_obsolete: true
replaced_by: MONDO:0006071

[Term]
id: MONDO:0002390
name: obsolete ossifying fibromyxoid tumor
is_obsolete: true
replaced_by: MONDO:0006330

[Term]
id: MONDO:0002391
name: obsolete skin sarcoma
is_obsolete: true
replaced_by: MONDO:0006414

[Term]
id: MONDO:0002392
name: obsolete lymphangiosarcoma
is_obsolete: true
replaced_by: MONDO:0006282

[Term]
id: MONDO:0002394
name: obsolete Leydig cell tumor
is_obsolete: true
replaced_by: MONDO:0006266

[Term]
id: MONDO:0002395
name: renal adenoma
def: "An adenoma arising from the renal cortex." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma, renal cell, benign" EXACT [NCIT:C8383]
synonym: "kidney adenoma" EXACT [NCIT:C8383]
synonym: "renal adenoma" EXACT [NCIT:C8383]
synonym: "renal cell adenoma" EXACT [DOID:2697]
synonym: "renal cell adenoma (morphologic abnormality)" EXACT [DOID:2697]
synonym: "renal tubule adenoma" EXACT [NCIT:C8383]
xref: DOID:2697 {source="MONDO:equivalentTo"}
xref: MEDGEN:137794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8383 {source="DOID:2697", source="MONDO:equivalentTo"}
xref: SCTID:41627005 {source="DOID:2697"}
xref: UMLS:C0334684 {source="MEDGEN:137794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004180 {source="DOID:2697", source="MONDO:Redundant"} ! benign urinary system neoplasm
is_a: MONDO:0004972 {source="NCIT:C8383"} ! adenoma
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C8383"} ! kidney neoplasm

[Term]
id: MONDO:0002396
name: nephrogenic adenofibroma
def: "A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells." [NCIT:P378]
synonym: "metanephric adenofibroma" EXACT [DOID:2698, NCIT:C39812]
xref: DOID:2698 {source="MONDO:equivalentTo"}
xref: ICDO:8965/0 {source="NCIT:C39812"}
xref: MEDGEN:220424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39812 {source="MONDO:equivalentTo", source="DOID:2698"}
xref: SCTID:128760004 {source="DOID:2698"}
xref: UMLS:C1266141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220424"}
is_a: MONDO:0002513 {source="DOID:2698", source="NCIT:C39812"} ! kidney benign neoplasm
is_a: MONDO:0021045 {source="NCIT:C39812"} ! fibroepithelial neoplasm

[Term]
id: MONDO:0002397
name: liver sarcoma
def: "A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma." [NCIT:C4437]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hepatic sarcoma" EXACT [DOID:270, NCIT:C4437]
synonym: "liver sarcoma" EXACT [MONDO:patterns/location, NCIT:C4437]
synonym: "sarcoma of liver" EXACT [MONDO:patterns/sarcoma, NCIT:C4437]
synonym: "sarcoma of the liver" EXACT [NCIT:C4437]
xref: DOID:270 {source="MONDO:equivalentTo"}
xref: MEDGEN:87522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4437 {source="MONDO:equivalentTo", source="DOID:270", source="MONDO:exact-label-match"}
xref: SCTID:254601002 {source="MONDO:equivalentTo", source="DOID:270"}
xref: UMLS:C0345906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87522"}
is_a: MONDO:0002691 {source="DOID:270", source="MONDO:Redundant", source="NCIT:C4437/inferred"} ! liver cancer
is_a: MONDO:0005089 {source="DOID:270", source="MONDO:Redundant", source="NCIT:C4437/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C4437"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0002398
name: mucinous adenofibroma
def: "A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential." [NCIT:C8978]
synonym: "mucinous adenofibroma" EXACT [NCIT:C8978]
xref: DOID:2700 {source="MONDO:equivalentTo"}
xref: ICDO:9015/0 {source="NCIT:C8978"}
xref: MEDGEN:83158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8978 {source="MONDO:equivalentTo", source="DOID:2700", source="MONDO:exact-label-match"}
xref: SCTID:10705005 {source="DOID:2700"}
xref: UMLS:C0334499 {source="MEDGEN:83158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006071 {source="DOID:2700", source="MONDO:Redundant", source="NCIT:C8978"} ! adenofibroma
intersection_of: MONDO:0006071 ! adenofibroma
intersection_of: MONDO:0024338 ! mucinous neoplasm

[Term]
id: MONDO:0002399
name: tenosynovial giant cell tumor, localized type
def: "A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site." [NCIT:C6532]
synonym: "benign synovioma" RELATED [DOID:2701]
synonym: "benign tumor of synovium" RELATED [DOID:2701, NCIT:C3829]
synonym: "benign tumour of synovium" RELATED OMO:0003005 []
synonym: "localised giant cell neoplasm of tendon sheath" EXACT OMO:0003005 []
synonym: "localised giant cell neoplasm of Tenosynovium" EXACT OMO:0003005 []
synonym: "localised giant cell neoplasm of the Tenosynovium" EXACT OMO:0003005 []
synonym: "localised giant cell tumour of tendon sheath" EXACT OMO:0003005 []
synonym: "localised giant cell tumour of Tenosynovium" EXACT OMO:0003005 []
synonym: "localised giant cell tumour of the Tenosynovium" EXACT OMO:0003005 []
synonym: "localised tenosynovial giant cell neoplasm" EXACT OMO:0003005 []
synonym: "localised tenosynovial giant cell tumour" EXACT OMO:0003005 []
synonym: "localized giant cell neoplasm of tendon sheath" EXACT [NCIT:C6532]
synonym: "localized giant cell neoplasm of Tenosynovium" EXACT [NCIT:C6532]
synonym: "localized giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C6532]
synonym: "localized giant cell tumor of tendon sheath" EXACT [NCIT:C6532]
synonym: "localized giant cell tumor of Tenosynovium" EXACT [DOID:2701, NCIT:C6532]
synonym: "localized giant cell tumor of the Tenosynovium" EXACT [NCIT:C6532]
synonym: "localized tenosynovial giant cell neoplasm" EXACT [NCIT:C6532]
synonym: "localized tenosynovial giant cell tumor" EXACT [NCIT:C6532]
synonym: "nodular tenosynovitis" EXACT [NCIT:C6532]
synonym: "synovioma, benign" RELATED EXCLUDE [DOID:2701]
synonym: "synovioma, benign (morphologic abnormality)" EXACT [DOID:2701]
synonym: "tenosynovial giant cell tumor, localized type" EXACT [NCIT:C6532]
xref: DOID:2701 {source="MONDO:equivalentTo"}
xref: ICD9:727.02 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:154413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3829 {source="DOID:2701"}
xref: NCIT:C6532 {source="MONDO:equivalentTo", source="DOID:2701"}
xref: SCTID:5178002 {source="DOID:2701"}
xref: SCTID:703702007 {source="DOID:2701"}
xref: SCTID:71508003 {source="DOID:2701"}
xref: SCTID:95413004 {source="MONDO:equivalentTo", source="DOID:2701"}
xref: UMLS:C0588125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154413"}
is_a: MONDO:0000654 {source="DOID:2701", source="NCIT:C6532/inferred"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0002522 {source="NCIT:C6532"} ! tenosynovial giant cell tumor
is_a: MONDO:0024715 {source="MONDO:Redundant", source="NCIT:C6532"} ! benign synovial neoplasm

[Term]
id: MONDO:0002400
name: synovitis
def: "Inflammation of a synovial membrane." [NCIT:C50766]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of synovial membrane of synovial joint" EXACT []
synonym: "synovial membrane of synovial joint inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Synovitides" RELATED [MESH:D013585]
synonym: "synovitis" EXACT [MONDO:ambiguous]
synonym: "synovitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2703 {source="MONDO:equivalentTo"}
xref: EFO:0008997 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100769 {source="MONDO:otherHierarchy"}
xref: MEDGEN:21051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013585 {source="MONDO:equivalentTo", source="DOID:2703"}
xref: NCIT:C50766 {source="MONDO:equivalentTo", source="DOID:2703"}
xref: SCTID:14107000 {source="DOID:2703"}
xref: SCTID:156666009 {source="DOID:2703"}
xref: SCTID:268092005 {source="DOID:2703"}
xref: SCTID:416209007 {source="MONDO:equivalentTo", source="DOID:2703"}
xref: UMLS:C0039103 {source="MONDO:equivalentTo", source="MEDGEN:21051", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="DOID:2703", source="MONDO:indirect"} ! connective tissue disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002018 ! synovial membrane of synovial joint
relationship: disease_has_feature MONDO:0005578 ! arthritic joint disease
property_value: IAO:0000589 "synovitis (disease)" xsd:string

[Term]
id: MONDO:0002401
name: malignant tenosynovial giant cell tumor
def: "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." [NCIT:C6535]
synonym: "giant cell tumor of tendon sheath, malignant" EXACT [DOID:2704]
synonym: "giant cell tumour of tendon sheath, malignant" EXACT OMO:0003005 []
synonym: "malignant giant cell neoplasm of tendon sheath" EXACT [NCIT:C6535]
synonym: "malignant giant cell neoplasm of the tendon sheath" EXACT [DOID:2704, NCIT:C6535]
synonym: "malignant giant cell tumor of tendon sheath" EXACT [NCIT:C6535]
synonym: "malignant giant cell tumor of the tendon sheath" EXACT [NCIT:C6535]
synonym: "malignant giant cell tumour of tendon sheath" EXACT OMO:0003005 []
synonym: "malignant giant cell tumour of the tendon sheath" EXACT OMO:0003005 []
synonym: "malignant tendon sheath giant cell neoplasm" EXACT [NCIT:C6535]
synonym: "malignant tendon sheath giant cell tumor" EXACT [NCIT:C6535]
synonym: "malignant tendon sheath giant cell tumour" EXACT OMO:0003005 []
synonym: "malignant tenosynovial giant cell tumor" EXACT [NCIT:C6535]
synonym: "tenosynovial giant cell tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:2704 {source="MONDO:equivalentTo"}
xref: ICDO:9252/3 {source="NCIT:C6535"}
xref: MEDGEN:226849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6535 {source="MONDO:equivalentTo", source="DOID:2704"}
xref: SCTID:128778009 {source="DOID:2704"}
xref: UMLS:C1266168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226849"}
is_a: MONDO:0002402 {source="MONDO:Redundant", source="NCIT:C6535"} ! malignant giant cell tumor
is_a: MONDO:0002403 {source="DOID:2704", source="MONDO:Redundant", source="NCIT:C6535"} ! synovium cancer
is_a: MONDO:0002522 {source="NCIT:C6535"} ! tenosynovial giant cell tumor
intersection_of: MONDO:0002522 ! tenosynovial giant cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0002402
name: malignant giant cell tumor
def: "A malignant neoplasm characterized by then presence of atypical giant cells." [NCIT:C4090]
subset: otar {source="MONDO:OTAR"}
synonym: "giant cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4090]
synonym: "malignant giant cell neoplasm" EXACT [DOID:2705, NCIT:C4090]
synonym: "malignant giant cell tumor" EXACT [NCIT:C4090]
synonym: "malignant tumor, giant cell type" EXACT [DOID:2705]
synonym: "malignant tumor, giant cell type (morphologic abnormality)" EXACT [DOID:2705]
xref: DOID:2705 {source="MONDO:equivalentTo"}
xref: ICDO:8003/3 {source="NCIT:C4090"}
xref: MEDGEN:90745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4090 {source="MONDO:equivalentTo", source="DOID:2705"}
xref: SCTID:83950009 {source="DOID:2705"}
xref: UMLS:C0334229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90745"}
is_a: MONDO:0002171 {source="DOID:2705", source="MONDO:Redundant"} ! giant cell tumor
intersection_of: MONDO:0002171 ! giant cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0002403
name: synovium cancer
def: "A cancer that involves the layer of synovial tissue." [MONDO:patterns/location]
synonym: "cancer of layer of synovial tissue" EXACT [MONDO:patterns/cancer]
synonym: "cancer of synovial membrane of synovial joint" EXACT [MONDO:patterns/cancer]
synonym: "layer of synovial tissue cancer" EXACT [MONDO:patterns/location]
synonym: "malignant layer of synovial tissue neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of layer of synovial tissue" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of synovial membrane of synovial joint" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of synovium" EXACT [NCIT:C6531]
synonym: "malignant neoplasm of the synovium" EXACT [NCIT:C6531]
synonym: "malignant synovial membrane of synovial joint neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant synovial neoplasm" EXACT [NCIT:C6531]
synonym: "malignant synovial tumor" EXACT [NCIT:C6531]
synonym: "malignant synovial tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of synovium" EXACT [DOID:2706, NCIT:C6531]
synonym: "malignant tumor of the synovium" EXACT [NCIT:C6531]
synonym: "malignant tumour of synovium" EXACT OMO:0003005 []
synonym: "malignant tumour of the synovium" EXACT OMO:0003005 []
synonym: "synovial membrane of synovial joint cancer" EXACT []
xref: DOID:2706 {source="MONDO:equivalentTo"}
xref: MEDGEN:277340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6531 {source="MONDO:equivalentTo", source="DOID:2706"}
xref: UMLS:C1334624 {source="MEDGEN:277340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002528 {source="NCIT:C6531"} ! synovium neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002018 ! synovial membrane of synovial joint

[Term]
id: MONDO:0002404
name: liver hemangioma
def: "A hemangioma arising from the liver." [NCIT:C3869]
subset: otar {source="MONDO:OTAR"}
synonym: "angioma of liver" EXACT [DOID:271, NCIT:C3869]
synonym: "angioma of the liver" RELATED [NCIT:C3869]
synonym: "hemangioma of liver" EXACT [NCIT:C3869]
synonym: "hemangioma of the liver" RELATED [NCIT:C3869]
synonym: "hepatic angioma" EXACT [DOID:271, NCIT:C3869]
synonym: "hepatic hemangioma" RELATED [NCIT:C3869]
synonym: "liver angioma" RELATED [NCIT:C3869]
synonym: "liver hemangioma" EXACT [MONDO:patterns/location, NCIT:C3869]
xref: DOID:271 {source="MONDO:equivalentTo"}
xref: MEDGEN:66765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3869 {source="NCIT:C3869", source="DOID:271", source="MONDO:equivalentTo"}
xref: SCTID:235879002 {source="DOID:271"}
xref: SCTID:93469006 {source="DOID:271", source="MONDO:equivalentTo"}
xref: UMLS:C0238246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66765"}
is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C3869/inferred"} ! benign digestive system neoplasm
is_a: MONDO:0002337 {source="DOID:271", source="NCIT:C3869"} ! intra-abdominal hemangioma
is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C3869/inferred"} ! hepatobiliary neoplasm
is_a: MONDO:0005154 {source="DOID:271", source="MONDO:Redundant", source="NCIT:C3869/inferred"} ! liver disorder
is_a: MONDO:0859689 {source="https://orcid.org/0000-0001-8134-3037"} ! hepatobiliary benign neoplasm
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0002107 ! liver
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7300" xsd:anyURI

[Term]
id: MONDO:0002405
name: hepatic vascular disorder
def: "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hepatic vascular disorder" EXACT [NCIT:C35442]
synonym: "liver vascular disorder" EXACT [NCIT:C35442]
synonym: "vascular disorder of liver" EXACT [DOID:272]
xref: DOID:272 {source="MONDO:equivalentTo"}
xref: ICD9:573.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35442 {source="MONDO:equivalentTo", source="DOID:272"}
xref: SCTID:235878005 {source="MONDO:equivalentTo", source="DOID:272"}
xref: UMLS:C0400923 {source="MEDGEN:140779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005154 {source="DOID:272", source="NCIT:C35442"} ! liver disorder
is_a: MONDO:0005385 {source="DOID:272", source="NCIT:C35442"} ! vascular disorder
intersection_of: MONDO:0005385 ! vascular disorder
intersection_of: disease_has_location UBERON:0006877 ! vasculature of liver

[Term]
id: MONDO:0002406
name: dermatitis
def: "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." [NCIT:C2983]
subset: otar {source="MONDO:OTAR"}
synonym: "eczema" RELATED EXCLUDE [DOID:2723]
synonym: "inflammation of skin" EXACT [NCIT:C2983]
synonym: "inflammation of the skin" EXACT [NCIT:C2983]
synonym: "inflammation of zone of skin" EXACT []
synonym: "inflammatory skin disease" EXACT [MONDO:0006501]
synonym: "skin inflammation" EXACT [DOID:2723]
synonym: "zone of skin inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2723 {source="MONDO:equivalentTo"}
xref: ICD10CM:L20-L30 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L30.9 {source="DOID:2723"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:849741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003872 {source="MONDO:equivalentTo", source="DOID:2723"}
xref: NCIT:C2983 {source="MONDO:equivalentTo", source="DOID:2723"}
xref: SCTID:156358005 {source="DOID:2723"}
xref: SCTID:156388001 {source="DOID:2723"}
xref: SCTID:182782007 {source="DOID:2723"}
xref: SCTID:200884006 {source="DOID:2723"}
xref: SCTID:238538009 {source="DOID:2723"}
xref: SCTID:267847004 {source="DOID:2723"}
xref: SCTID:267856007 {source="DOID:2723"}
xref: SCTID:43116000 {source="MONDO:equivalentTo", source="DOID:2723"}
xref: SCTID:4979002 {source="DOID:2723"}
xref: SCTID:703938007 {source="DOID:2723"}
xref: UMLS:C3875321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:849741"}
is_a: MONDO:0005093 {source="DOID:2723", source="EFO:1000636", source="MESH:D003872", source="MONDO:Redundant", source="NCIT:C2983/inferred"} ! skin disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002407
name: capillary hemangioma
def: "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." [NCIT:C7457]
subset: otar {source="MONDO:OTAR"}
synonym: "capillary angioma" EXACT [NCIT:C7457]
synonym: "capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C7457]
synonym: "capillary hemangioma (morphologic abnormality)" EXACT [DOID:2725]
synonym: "cellular hemangioma of infancy" NARROW [DOID:2725]
synonym: "cellular hemangioma of infancy (strawberry nevus)" NARROW [DOID:2725, NCIT:C7394]
synonym: "congenital vascular hamartoma" EXACT [DOID:2725]
synonym: "congenital vascular naevus" EXACT [DOID:2725]
synonym: "infantile hemangioma" NARROW [DOID:2725, NCIT:C7459]
synonym: "juvenile hemangioma" NARROW [DOID:2725, NCIT:C7458]
synonym: "strawberry haemangioma" EXACT [DOID:2725]
synonym: "strawberry nevus" EXACT [DOID:2725]
synonym: "strawberry nevus of skin" EXACT [DOID:2725]
xref: DOID:2725 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q82.5 {source="DOID:2725"}
xref: ICDO:9131/0 {source="NCIT:C7457"}
xref: MEDGEN:64643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018324 {source="MONDO:equivalentTo", source="DOID:2725"}
xref: NCIT:C6645 {source="DOID:2725"}
xref: NCIT:C7457 {source="MONDO:equivalentTo"}
xref: SCTID:205560007 {source="DOID:2725"}
xref: SCTID:254206003 {source="DOID:2725"}
xref: SCTID:402867006 {source="DOID:2725"}
xref: SCTID:56975005 {source="MONDO:equivalentTo", source="DOID:2725"}
xref: SCTID:83343001 {source="DOID:2725"}
xref: UMLS:C0206733 {source="MEDGEN:64643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:2725/inferred", source="MESH:D018324", source="NCIT:C7457"} ! hemangioma
disjoint_from: MONDO:0018715 ! congenital hemangioma

[Term]
id: MONDO:0002408
name: hereditary hyperbilirubinemia
def: "An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome." [NCIT:C84761]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilirubin metabolic disorder" BROAD [DOID:2741]
synonym: "hereditary hyperbilirubinemia" EXACT [DOID:2741, MONDO:patterns/hereditary]
synonym: "hyperbilirubinaemia" BROAD [DOID:2741]
synonym: "hyperbilirubinemia" BROAD [DOID:2741]
xref: DOID:2741 {source="MONDO:equivalentTo"}
xref: MEDGEN:6963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006932 {source="DOID:2741"}
xref: MESH:D006933 {source="DOID:2741", source="MONDO:equivalentTo"}
xref: NCIT:C84761 {source="DOID:2741", source="MONDO:equivalentTo"}
xref: OMIMPS:237450 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:143932000 {source="DOID:2741"}
xref: SCTID:14783006 {source="MONDO:relatedTo", source="DOID:2741"}
xref: SCTID:154770008 {source="DOID:2741"}
xref: SCTID:166612004 {source="DOID:2741"}
xref: SCTID:20505009 {source="DOID:2741"}
xref: SCTID:235904007 {source="DOID:2741"}
xref: SCTID:267509000 {source="DOID:2741"}
xref: UMLS:C0020435 {source="MEDGEN:6963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="DOID:2741", source="MESH:D006933", source="MONDO:Redundant", source="NCIT:C84761"} ! inborn errors of metabolism
intersection_of: MONDO:0024288 ! hyperbilirubinemia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:237450"} ! inherited

[Term]
id: MONDO:0002409
name: auditory system disorder
def: "A disease involving the auditory system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "auditory disease" EXACT [DOID:2742]
synonym: "auditory system disease" EXACT [MONDO:patterns/location]
synonym: "auditory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of auditory system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of auditory system" EXACT []
synonym: "disorder of auditory system" EXACT [MONDO:patterns/location_top]
synonym: "ear and mastoid disease" EXACT [DOID:2742]
xref: DOID:2742 {source="MONDO:equivalentTo"}
xref: EFO:1001455 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H60-H95 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H90-H94 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H93.9 {source="DOID:2742"}
xref: ICD10CM:H93.90 {source="DOID:2742"}
xref: ICD9:388.9 {source="MONDO:relatedTo", source="DOID:2742"}
xref: MESH:D004427 {source="DOID:2742"}
xref: NCIT:C26757 {source="MONDO:relatedTo", source="DOID:2742"}
xref: SCTID:155253008 {source="DOID:2742"}
xref: SCTID:155261003 {source="DOID:2742"}
xref: SCTID:194193002 {source="DOID:2742"}
xref: SCTID:194410006 {source="DOID:2742"}
xref: SCTID:25906001 {source="MONDO:relatedTo", source="DOID:2742"}
xref: SCTID:267768008 {source="DOID:2742"}
xref: SCTID:362966006 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0016490 ! auditory system

[Term]
id: MONDO:0002410
name: pyeloureteritis cystica
xref: DOID:2743 {source="MONDO:equivalentTo"}
xref: ICD10CM:N28.85 {source="DOID:2743", source="MONDO:equivalentTo"}
xref: ICD9:590.3 {source="DOID:2743", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155864003 {source="DOID:2743"}
xref: SCTID:197776002 {source="DOID:2743"}
xref: SCTID:266555009 {source="DOID:2743"}
xref: SCTID:37779008 {source="DOID:2743", source="MONDO:equivalentTo"}
xref: UMLS:C0156254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510216"}
is_a: MONDO:0006938 {source="DOID:2743"} ! pyelitis

[Term]
id: MONDO:0002411
name: narcissistic personality disorder
def: "A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others." [NCIT:P378]
xref: DOID:2745 {source="MONDO:equivalentTo"}
xref: ICD10CM:F60.81 {source="MONDO:equivalentTo", source="DOID:2745"}
xref: ICD9:301.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2745"}
xref: MEDGEN:10262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010554 {source="DOID:2745"}
xref: NCIT:C92635 {source="MONDO:equivalentTo", source="DOID:2745"}
xref: SCTID:192493008 {source="DOID:2745"}
xref: SCTID:80711002 {source="MONDO:equivalentTo", source="DOID:2745"}
xref: UMLS:C0027402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10262"}
is_a: MONDO:0002028 {source="DOID:2745", source="NCIT:C92635"} ! personality disorder

[Term]
id: MONDO:0002412
name: disorder of glycogen metabolism
def: "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." [NCIT:C61272]
subset: disease_grouping
subset: gard_rare {source="GARD:18973", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79201"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen metabolism disorder" EXACT [DOID:0050728, DOID:2747]
synonym: "glycogen storage disease" EXACT [MONDO:0019244, OMIMPS:232200]
synonym: "glycogen storage disorder" EXACT []
synonym: "glycogenoses" EXACT [DOID:2747, Wikipedia:Glycogen_storage_disease]
synonym: "glycogenosis" EXACT [DOID:2747, Orphanet:79201]
synonym: "GSD" EXACT ABBREVIATION [Orphanet:79201]
synonym: "inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glycogen metabolic process disorder" EXACT []
synonym: "inborn glycogen storage disorder" EXACT []
synonym: "rare inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0050728 {source="MONDO:equivalentTo"}
xref: DOID:2747 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:18973 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:79201/e", source="Orphanet:79201/specific", source="MONDO:equivalentTo", source="DOID:2747", source="Orphanet:79201"}
xref: ICD10CM:E74.00 {source="DOID:2747"}
xref: icd11.foundation:1187107383 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79201"}
xref: ICD9:271.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2747"}
xref: MedDRA:10061990 {source="Orphanet:79201/e", source="Orphanet:79201"}
xref: MEDGEN:6639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006008 {source="Orphanet:79201/e", source="MONDO:equivalentTo", source="DOID:2747", source="Orphanet:79201"}
xref: NANDO:1200838 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61272 {source="MONDO:equivalentTo", source="DOID:2747"}
xref: OMIMPS:232200 {source="MONDO:equivalentTo"}
xref: Orphanet:79201 {source="MONDO:equivalentTo"}
xref: SCTID:154738008 {source="DOID:2747"}
xref: SCTID:190744005 {source="DOID:2747"}
xref: SCTID:267498002 {source="DOID:2747"}
xref: SCTID:29633007 {source="MONDO:equivalentTo", source="DOID:2747"}
xref: UMLS:C0017919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6639"}
is_a: MONDO:0019052 {source="DOID:0050728/inferred", source="DOID:2747/inferred", source="MESH:D006008/inferred", source="MONDO:Redundant", source="NCIT:C61272", source="Orphanet:79201/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019214 {source="DOID:0050728", source="DOID:2747/inferred", source="MESH:D006008", source="MONDO:Redundant", source="Orphanet:79201", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0037792 {source="https://orcid.org/0000-0001-5208-3432"} ! carbohydrate metabolism disease
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0005977 ! glycogen metabolic process
relationship: excluded_subClassOf MONDO:0000422 {source="DOID:2747", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inborn glycogen metabolism disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:232200"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0002413
name: glycogen storage disease I
alt_id: MONDO:0018220
def: "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." [Orphanet:364]
subset: gard_rare {source="GARD:16523", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1193", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:364"}
subset: orphanet_rare {source="Orphanet:364"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency of glucose-6-phosphatase" EXACT [DOID:2749]
synonym: "G6P deficiency" EXACT [Orphanet:364]
synonym: "glycogen storage disease due to G6P deficiency" EXACT [Orphanet:364]
synonym: "glycogen storage disease due to glucose-6-phosphatase deficiency" EXACT [Orphanet:364]
synonym: "glycogen storage disease I" EXACT CLINGEN_LABEL []
synonym: "glycogen storage disease type 1" EXACT [Orphanet:364]
synonym: "Glycogen Storage Disease Type I" EXACT [NORD:1193]
synonym: "glycogen storage disease type I" EXACT [DOID:2749, MONDORULE:1, Orphanet:364]
synonym: "glycogen storage disease, type I" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/]
synonym: "glycogenosis type 1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364]
synonym: "glycogenosis type I" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364]
synonym: "GSD due to G6P deficiency" EXACT [Orphanet:364]
synonym: "GSD type 1" EXACT [Orphanet:364]
synonym: "GSD type I" EXACT [Orphanet:364]
synonym: "GSD1" EXACT ABBREVIATION []
synonym: "hepatorenal glycogenosis" EXACT [Orphanet:364]
synonym: "von Gierke disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364]
synonym: "von Gierke's disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/]
xref: DOID:0081329 {source="MONDO:equivalentTo"}
xref: GARD:16523 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:364/ntbt", source="Orphanet:364/inclusion", source="Orphanet:364"}
xref: ICD10CM:E74.01 {source="MONDO:equivalentTo", source="DOID:2749"}
xref: MedDRA:10018464 {source="Orphanet:364/e", source="Orphanet:364"}
xref: MEDGEN:6640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005953 {source="MONDO:equivalentTo", source="DOID:2749", source="MONDO:directSiblingOf"}
xref: NANDO:1200840 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1201018 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200538 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84733 {source="MONDO:equivalentTo", source="DOID:2749"}
xref: NORD:1193 {source="MONDO:NORD"}
xref: Orphanet:364 {source="MONDO:equivalentTo"}
xref: SCTID:124437004 {source="DOID:2749"}
xref: SCTID:154738008 {source="DOID:2749"}
xref: SCTID:267498002 {source="DOID:2749"}
xref: SCTID:7265005 {source="MONDO:equivalentTo", source="DOID:2749"}
xref: UMLS:C0017920 {source="MEDGEN:6640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="DOID:2749", source="DOID:2749/inferred", source="ICD10CM:E74.01", source="MESH:D005953", source="NCIT:C84733", source="Orphanet:364"} ! disorder of glycogen metabolism
is_a: MONDO:0005066 {source="Orphanet:364"} ! metabolic disease
relationship: disease_disrupts GO:0004346 ! glucose-6-phosphatase activity
relationship: disease_has_feature HP:0002240 ! Hepatomegaly
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:364", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare

[Term]
id: MONDO:0002414
name: gastric hemangioma
def: "A hemangioma arising from the stomach." [NCIT:C5481]
synonym: "angioma of stomach" EXACT [NCIT:C5481]
synonym: "angioma of the stomach" EXACT [NCIT:C5481]
synonym: "gastric angioma" EXACT [NCIT:C5481]
synonym: "gastric hemangioma" EXACT [NCIT:C5481]
synonym: "hemangioma of stomach" EXACT [DOID:275, NCIT:C5481]
synonym: "hemangioma of the stomach" EXACT [NCIT:C5481]
synonym: "stomach hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:275 {source="MONDO:equivalentTo"}
xref: MEDGEN:234297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5481 {source="MONDO:equivalentTo", source="DOID:275", source="MONDO:exact-label-match"}
xref: UMLS:C1333770 {source="MEDGEN:234297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="DOID:275", source="MONDO:Redundant", source="NCIT:C5481/inferred"} ! benign digestive system neoplasm
is_a: MONDO:0002337 {source="DOID:275", source="NCIT:C5481"} ! intra-abdominal hemangioma
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C5481/inferred"} ! gastric neoplasm
is_a: MONDO:0021449 {source="MONDO:Redundant", source="NCIT:C5481/inferred"} ! benign neoplasm of stomach
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0002415
name: bone carcinoma
def: "A carcinoma that involves the bone element." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone element carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of bone element" EXACT [MONDO:patterns/carcinoma]
xref: DOID:2762 {source="MONDO:equivalentTo"}
xref: NCIT:C36082 {source="MONDO:relatedTo", source="DOID:2762"}
xref: SCTID:269568000 {source="DOID:2762"}
is_a: MONDO:0002129 {source="DOID:2762", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001474 ! bone element

[Term]
id: MONDO:0002416
name: ethmoid sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of ethmoid sinus" EXACT [NCIT:C6065]
synonym: "epidermoid carcinoma of ethmoidal sinus" EXACT [NCIT:C6065]
synonym: "epidermoid carcinoma of the ethmoid sinus" EXACT [NCIT:C6065]
synonym: "epidermoid carcinoma of the ethmoidal sinus" EXACT [DOID:2763, NCIT:C6065]
synonym: "ethmoid sinus epidermoid carcinoma" EXACT [NCIT:C6065]
synonym: "ethmoid sinus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "ethmoidal sinus epidermoid carcinoma" EXACT [NCIT:C6065]
synonym: "ethmoidal sinus squamous cell carcinoma" EXACT [NCIT:C6065]
synonym: "squamous cell carcinoma of ethmoid sinus" EXACT [NCIT:C6065]
synonym: "squamous cell carcinoma of ethmoidal sinus" EXACT [NCIT:C6065]
synonym: "squamous cell carcinoma of the ethmoid sinus" EXACT [NCIT:C6065]
synonym: "squamous cell carcinoma of the ethmoidal sinus" EXACT [NCIT:C6065]
xref: DOID:2763 {source="MONDO:equivalentTo"}
xref: MEDGEN:272596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6065 {source="DOID:2763", source="MONDO:equivalentTo"}
xref: SCTID:707359008 {source="MONDO:equivalentTo"}
xref: UMLS:C1333477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272596"}
is_a: MONDO:0001763 {source="DOID:2763", source="MONDO:Redundant", source="NCIT:C6065"} ! ethmoid sinus cancer
is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6065/inferred"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus

[Term]
id: MONDO:0002417
name: obsolete ethmoid sinus adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006201

[Term]
id: MONDO:0002418
name: ethmoid sinus adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the epithelial cell" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenocarcinoma of ethmoid sinus" RELATED [DOID:2766]
synonym: "adenocarcinoma of the ethmoid sinus" EXACT [DOID:2766, NCIT:C6237]
xref: DOID:2766 {source="MONDO:equivalentTo"}
xref: MEDGEN:272595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6237 {source="MONDO:equivalentTo", source="DOID:2766"}
xref: UMLS:C1333472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272595"}
is_a: MONDO:0001763 {source="DOID:2766", source="MONDO:Redundant", source="NCIT:C6237"} ! ethmoid sinus cancer
is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C6237/inferred"} ! head and neck carcinoma
is_a: MONDO:0004970 {source="DOID:2766/inferred", source="MONDO:Redundant", source="NCIT:C6237/inferred"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus
intersection_of: realized_in_response_to_stimulus CL:0000066 ! epithelial cell

[Term]
id: MONDO:0002419
name: transient tic disorder
def: "A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause." [NCIT:P378]
synonym: "benign Tic disorder of childhood" EXACT [NCIT:C116767]
xref: DOID:2768 {source="MONDO:equivalentTo"}
xref: ICD10CM:F95.0 {source="MONDO:equivalentTo", source="DOID:2768"}
xref: ICD9:307.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2768"}
xref: MEDGEN:52814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013981 {source="DOID:2768"}
xref: NCIT:C116767 {source="MONDO:equivalentTo", source="DOID:2768"}
xref: SCTID:192622000 {source="DOID:2768"}
xref: SCTID:56573006 {source="MONDO:equivalentTo", source="DOID:2768"}
xref: UMLS:C0040702 {source="MEDGEN:52814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002420 {source="DOID:2768", source="MONDO:Redundant"} ! tic disorder
is_a: MONDO:0005395 {source="NCIT:C116767"} ! movement disorder
intersection_of: MONDO:0002420 ! tic disorder
intersection_of: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0002420
name: tic disorder
def: "Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)" [MESH:D013981]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2769 {source="MONDO:equivalentTo"}
xref: ICD10CM:F90-98 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F95 {source="DOID:2769"}
xref: ICD10CM:F95.9 {source="DOID:2769"}
xref: ICD9:307.2 {source="DOID:2769"}
xref: ICD9:307.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2769"}
xref: MEDGEN:853666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013981 {source="MONDO:equivalentTo", source="DOID:2769"}
xref: SCTID:112086008 {source="DOID:2769"}
xref: SCTID:155005001 {source="DOID:2769"}
xref: SCTID:191988002 {source="DOID:2769"}
xref: SCTID:191989005 {source="DOID:2769"}
xref: SCTID:191991002 {source="DOID:2769"}
xref: SCTID:192621007 {source="DOID:2769"}
xref: SCTID:192626002 {source="DOID:2769"}
xref: SCTID:35042001 {source="DOID:2769"}
xref: SCTID:386783003 {source="DOID:2769"}
xref: SCTID:393585001 {source="DOID:2769"}
xref: SCTID:568005 {source="MONDO:equivalentTo", source="DOID:2769"}
xref: UMLS:C2169806 {source="MEDGEN:853666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000592 {source="DOID:2769"} ! specific developmental disorder

[Term]
id: MONDO:0002421
name: obsolete chorioangioma
is_obsolete: true
replaced_by: MONDO:0006375

[Term]
id: MONDO:0002422
name: adamantinoma
def: "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton." [NCIT:C7644]
subset: gard_rare {source="GARD:16660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:55881"}
subset: orphanet_rare {source="Orphanet:55881"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adamantinoma" EXACT [NCIT:C7644]
synonym: "adamantinoma of long bone" RELATED [DOID:2775]
synonym: "adamantinoma of long bones" EXACT [DOID:2775, NCIT:C7644, OMIM:102660, Orphanet:55881]
synonym: "adamantinoma of long bones (morphologic abnormality)" EXACT [DOID:2775]
synonym: "adamantinoma, malignant" EXACT [NCIT:C7644]
synonym: "Extragnathic adamantinoma" EXACT [NCIT:C7644]
synonym: "long bone adamantinoma" EXACT [MONDO:0007063, MONDO:patterns/location]
xref: DOID:2775 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:2776 {source="MONDO:equivalentTo"}
xref: GARD:16660 {source="MONDO:GARD"}
xref: ICD10CM:C40.2 {source="Orphanet:55881/index", source="Orphanet:55881/ntbt", source="Orphanet:55881", source="MONDO:directSiblingOf"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9261/3 {source="NCIT:C7644"}
xref: MEDGEN:83163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562741 {source="MONDO:equivalentTo", source="DOID:2775"}
xref: MESH:D050398 {source="Orphanet:55881/e", source="DOID:2776", source="MONDO:equivalentTo", source="Orphanet:55881"}
xref: NCIT:C7644 {source="DOID:2776", source="MONDO:equivalentTo"}
xref: OMIM:102660 {source="Orphanet:55881/e", source="MONDO:equivalentTo", source="DOID:2775", source="Orphanet:55881"}
xref: ONCOTREE:ADMA {source="MONDO:equivalentTo"}
xref: Orphanet:55881 {source="OMIM:102660", source="MONDO:equivalentTo"}
xref: SCTID:189895006 {source="DOID:2775"}
xref: SCTID:307609003 {source="MONDO:equivalentTo", source="DOID:2775"}
xref: SCTID:56763007 {source="DOID:2775"}
xref: UMLS:C0334556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83163"}
is_a: MONDO:0002129 {source="DOID:2775/inferred", source="DOID:2776", source="MESH:C562741/inferred", source="MESH:D050398", source="NCIT:C7644"} ! bone cancer
is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C7644"} ! epithelial neoplasm
is_a: MONDO:0019060 {source="NCIT:C7644/inferred", source="ONCOTREE:ADMA", source="Orphanet:55881"} ! bone neoplasm
relationship: disease_has_location UBERON:0002495 ! long bone
relationship: excluded_subClassOf MONDO:0015959 {source="Orphanet:55881", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited syndrome with bone tumors as a major feature

[Term]
id: MONDO:0002423
name: rectosigmoid junction neoplasm
def: "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C4877]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCIT:C4877]
synonym: "neoplasm of the rectosigmoid junction" EXACT [NCIT:C4877]
synonym: "rectosigmoid junction neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "rectosigmoid junction tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "rectosigmoid junction tumour" EXACT OMO:0003005 []
synonym: "rectosigmoid neoplasm" EXACT [DOID:2780, NCIT:C4877]
synonym: "rectosigmoid tumor" EXACT [DOID:2780, NCIT:C4877]
synonym: "rectosigmoid tumour" EXACT OMO:0003005 []
synonym: "tumor of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCIT:C4877]
synonym: "tumor of the rectosigmoid junction" EXACT [NCIT:C4877]
synonym: "tumour of rectosigmoid junction" EXACT OMO:0003005 []
synonym: "tumour of the rectosigmoid junction" EXACT OMO:0003005 []
xref: DOID:2780 {source="MONDO:equivalentTo"}
xref: MEDGEN:87517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4877 {source="DOID:2780", source="MONDO:equivalentTo"}
xref: SCTID:126848003 {source="DOID:2780", source="MONDO:equivalentTo"}
xref: UMLS:C0345873 {source="MEDGEN:87517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005335 {source="NCIT:C4877"} ! colorectal neoplasm
is_a: MONDO:0006971 {source="DOID:2780"} ! sigmoid neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0036214 ! rectosigmoid junction
relationship: excluded_subClassOf MONDO:0002165 {source="DOID:2780", source="https://orcid.org/0000-0001-5208-3432"} ! rectal neoplasm

[Term]
id: MONDO:0002424
name: rectosigmoid carcinoma
def: "A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area." [NCIT:C7421]
synonym: "carcinoma of rectosigmoid junction" EXACT [MONDO:patterns/carcinoma]
synonym: "rectosigmoid cancer" EXACT [NCIT:C7421]
synonym: "rectosigmoid carcinoma" EXACT [NCIT:C7421]
synonym: "rectosigmoid junction carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:2781 {source="MONDO:equivalentTo"}
xref: MEDGEN:232963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7421 {source="DOID:2781", source="MONDO:equivalentTo"}
xref: UMLS:C1327709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232963"}
is_a: MONDO:0002425 {source="DOID:2781", source="MONDO:Redundant", source="NCIT:C7421"} ! rectosigmoid junction cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0036214 ! rectosigmoid junction

[Term]
id: MONDO:0002425
name: rectosigmoid junction cancer
def: "A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C7420]
synonym: "cancer of rectosigmoid junction" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of rectosigmoid" EXACT [DOID:2782]
synonym: "malignant neoplasm of rectosigmoid junction" EXACT [DOID:2782, ICD9CM:154.0, MONDO:patterns/cancer, NCIT:C7420]
synonym: "malignant neoplasm of the rectosigmoid junction" EXACT [NCIT:C7420]
synonym: "malignant rectosigmoid junction neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant rectosigmoid neoplasm" EXACT [NCIT:C7420]
synonym: "malignant rectosigmoid tumor" EXACT [DOID:2782, NCIT:C7420]
synonym: "malignant rectosigmoid tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of rectosigmoid junction" EXACT [NCIT:C7420]
synonym: "malignant tumor of the rectosigmoid junction" EXACT [NCIT:C7420]
synonym: "malignant tumour of rectosigmoid junction" EXACT OMO:0003005 []
synonym: "malignant tumour of the rectosigmoid junction" EXACT OMO:0003005 []
synonym: "rectosigmoid junction cancer" EXACT [MONDO:patterns/location]
xref: DOID:2782 {source="MONDO:equivalentTo"}
xref: ICD10CM:C19 {source="DOID:2782", source="MONDO:equivalentTo"}
xref: ICD9:154.0 {source="DOID:2782", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7420 {source="DOID:2782", source="MONDO:equivalentTo"}
xref: SCTID:363414004 {source="DOID:2782", source="MONDO:equivalentTo"}
xref: SCTID:93980002 {source="DOID:2782"}
xref: UMLS:C0153443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57558"}
is_a: MONDO:0001464 {source="DOID:2782", source="MONDO:Redundant"} ! sigmoid colon cancer
is_a: MONDO:0002423 {source="MONDO:Redundant", source="NCIT:C7420"} ! rectosigmoid junction neoplasm
is_a: MONDO:0006519 {source="MONDO:Entailed"} ! rectal cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0036214 ! rectosigmoid junction

[Term]
id: MONDO:0002426
name: lung sarcoma
def: "A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma." [NCIT:C4860]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung sarcoma" EXACT [MONDO:patterns/location, NCIT:C4860]
synonym: "pulmonary sarcoma" EXACT [DOID:2784, NCIT:C4860]
synonym: "sarcoma of lung" EXACT [MONDO:patterns/sarcoma, NCIT:C4860]
synonym: "sarcoma of the lung" EXACT [NCIT:C4860]
xref: DOID:2784 {source="MONDO:equivalentTo"}
xref: MEDGEN:109336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4860 {source="DOID:2784", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0598790 {source="MEDGEN:109336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DOID:2784", source="MONDO:Redundant", source="NCIT:C4860/inferred"} ! sarcoma
is_a: MONDO:0008903 {source="DOID:2784", source="MONDO:Redundant", source="NCIT:C4860"} ! lung cancer
is_a: MONDO:0018078 {source="NCIT:C4860"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0002427
name: cerebellar disorder
def: "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." [MESH:D002526]
subset: otar {source="MONDO:OTAR"}
synonym: "cerebellum disease" EXACT [MONDO:patterns/location]
synonym: "cerebellum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of cerebellum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cerebellum" EXACT []
synonym: "disorder of cerebellum" EXACT [MONDO:patterns/location_top]
xref: DOID:2786 {source="MONDO:equivalentTo"}
xref: MEDGEN:40186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002526 {source="MONDO:equivalentTo", source="DOID:2786"}
xref: SCTID:155010002 {source="DOID:2786"}
xref: SCTID:192867005 {source="DOID:2786"}
xref: SCTID:223176004 {source="MONDO:equivalentTo", source="DOID:2786"}
xref: SCTID:224186005 {source="DOID:2786"}
xref: SCTID:267691001 {source="DOID:2786"}
xref: SCTID:307361005 {source="DOID:2786"}
xref: SCTID:49784007 {source="DOID:2786"}
xref: UMLS:C0007760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40186"}
is_a: MONDO:0005560 {source="DOID:2786", source="MESH:D002526", source="MONDO:Redundant"} ! brain disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002037 ! cerebellum

[Term]
id: MONDO:0002428
name: protozoa infectious disease
def: "An infection that is caused by protozoans." [NCIT:C34953]
subset: otar {source="MONDO:OTAR"}
synonym: "Mastigophora infectious disease" NARROW [DOID:2789]
synonym: "parasitic protozoa infectious disease" RELATED [DOID:2789]
synonym: "protozoal infection" EXACT [NCIT:C34953]
synonym: "sarcomastigophora infectious disease" NARROW [DOID:2789]
xref: DOID:2789 {source="MONDO:equivalentTo"}
xref: ICD10CM:B50-B64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:2789", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:B64 {source="DOID:2789"}
xref: MESH:D011528 {source="MONDO:equivalentTo", source="DOID:2789"}
xref: NCIT:C34953 {source="MONDO:equivalentTo", source="DOID:2789"}
xref: SCTID:187247003 {source="DOID:2789"}
xref: SCTID:187502000 {source="DOID:2789"}
xref: SCTID:187517001 {source="DOID:2789"}
xref: SCTID:240627001 {source="DOID:2789"}
xref: SCTID:367372008 {source="DOID:2789"}
xref: SCTID:89933001 {source="DOID:2789"}
xref: SCTID:95896000 {source="DOID:2789"}
is_a: MONDO:0005135 {source="DOID:2789", source="MESH:D011528", source="NCIT:C34953"} ! parasitic infectious disease

[Term]
id: MONDO:0002429
name: idiopathic interstitial pneumonia
def: "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)." [Wikipedia:Idiopathic_interstitial_pneumonia]
subset: disease_grouping
subset: gard_rare {source="GARD:13337", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98300"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse idiopathic pulmonary fibrosis" EXACT [DOID:2797]
synonym: "idiopathic fibrosing alveolitis" EXACT [DOID:2797, ICD9CM:516.3]
synonym: "idiopathic interstitial pneumonitis" EXACT [https://orcid.org/0000-0003-0113-912X]
synonym: "IIp" EXACT [NCIT:C35714]
synonym: "IPF" RELATED ABBREVIATION [DOID:2797]
synonym: "noninfectious pneumonia" EXACT [Wikipedia:Idiopathic_interstitial_pneumonia]
xref: DOID:2797 {source="MONDO:equivalentTo"}
xref: GARD:13337 {source="MONDO:GARD"}
xref: ICD10CM:J84.11 {source="DOID:2797"}
xref: ICD10CM:J84.112 {source="DOID:2797"}
xref: ICD10CM:J84.114 {source="DOID:2797"}
xref: MEDGEN:389939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054988 {source="Orphanet:98300", source="MONDO:equivalentTo", source="Orphanet:98300/e"}
xref: NANDO:1200416 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200199 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35714 {source="MONDO:equivalentTo"}
xref: Orphanet:98300 {source="MONDO:equivalentTo"}
xref: SCTID:129459004 {source="DOID:2797"}
xref: SCTID:155624004 {source="DOID:2797"}
xref: SCTID:196123009 {source="DOID:2797"}
xref: SCTID:196125002 {source="DOID:2797"}
xref: SCTID:196126001 {source="DOID:2797"}
xref: SCTID:233721005 {source="DOID:2797"}
xref: SCTID:236302005 {source="DOID:2797"}
xref: SCTID:266410004 {source="DOID:2797"}
xref: SCTID:45157009 {source="DOID:2797"}
xref: SCTID:700249006 {source="MONDO:equivalentTo"}
xref: SCTID:700250006 {source="DOID:2797"}
xref: UMLS:C2350236 {source="MEDGEN:389939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005249 {source="DOID:2797", source="NCIT:C35714/inferred"} ! pneumonia
relationship: disease_has_feature HP:0002090 ! Pneumonia
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0002430
name: obsolete acute interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0019203

[Term]
id: MONDO:0002431
name: obsolete nonspecific interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0019622

[Term]
id: MONDO:0002432
name: malignant neoplasm of acoustic nerve
def: "A malignant neoplasm involving the vestibulocochlear nerve." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of the vestibulocochlear nerve" EXACT [NCIT:C4539]
synonym: "cancer of vestibulocochlear nerve" EXACT [MONDO:patterns/cancer]
synonym: "malignant acoustic nerve neoplasm" EXACT [NCIT:C4539]
synonym: "malignant acoustic nerve tumor" EXACT [NCIT:C4539]
synonym: "malignant acoustic nerve tumour" EXACT OMO:0003005 []
synonym: "malignant eighth cranial nerve neoplasm" EXACT [NCIT:C4539]
synonym: "malignant eighth cranial nerve tumor" EXACT [NCIT:C4539]
synonym: "malignant eighth cranial nerve tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of eighth cranial nerve" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of the acoustic nerve" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of the eighth cranial nerve" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of the vestibulocochlear nerve" EXACT [NCIT:C4539]
synonym: "malignant neoplasm of vestibulocochlear nerve" EXACT [MONDO:patterns/cancer, NCIT:C4539]
synonym: "malignant tumor of acoustic nerve" EXACT [NCIT:C4539]
synonym: "malignant tumor of acoustic vestibular nerve" EXACT [DOID:2814]
synonym: "malignant tumor of eighth cranial nerve" EXACT [NCIT:C4539]
synonym: "malignant tumor of the acoustic nerve" EXACT [NCIT:C4539]
synonym: "malignant tumor of the eighth cranial nerve" EXACT [NCIT:C4539]
synonym: "malignant tumor of the vestibulocochlear nerve" EXACT [DOID:2814, NCIT:C4539]
synonym: "malignant tumor of vestibulocochlear nerve" EXACT [NCIT:C4539]
synonym: "malignant tumour of acoustic nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of acoustic vestibular nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of eighth cranial nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of the acoustic nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of the eighth cranial nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of the vestibulocochlear nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of vestibulocochlear nerve" EXACT OMO:0003005 []
synonym: "malignant vestibulocochlear nerve neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant vestibulocochlear nerve tumor" EXACT [NCIT:C4539]
synonym: "malignant vestibulocochlear nerve tumour" EXACT OMO:0003005 []
synonym: "vestibulocochlear nerve cancer" EXACT [MONDO:patterns/location]
xref: DOID:2814 {source="MONDO:equivalentTo"}
xref: ICD10CM:C72.4 {source="DOID:2814"}
xref: MEDGEN:83418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4539 {source="MONDO:equivalentTo", source="DOID:2814"}
xref: SCTID:188310002 {source="DOID:2814"}
xref: SCTID:254980001 {source="MONDO:equivalentTo", source="DOID:2814"}
xref: SCTID:93660000 {source="DOID:2814"}
xref: UMLS:C0346331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83418"}
is_a: MONDO:0001563 {source="DOID:2814", source="MONDO:Redundant", source="NCIT:C4539/inferred"} ! vestibulocochlear nerve disorder
is_a: MONDO:0002433 {source="DOID:2814", source="MONDO:Redundant", source="NCIT:C4539"} ! malignant cranial nerve neoplasm
is_a: MONDO:0004532 {source="DOID:2814", source="MONDO:Entailed", source="MONDO:Redundant"} ! auditory system cancer
is_a: MONDO:0021221 {source="MONDO:Redundant", source="NCIT:C4539"} ! vestibulocochlear nerve neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001648 ! vestibulocochlear nerve

[Term]
id: MONDO:0002433
name: malignant cranial nerve neoplasm
def: "Abnormal malignant growth of the cells that comprise the cranial nerve." [NCIT:C3571]
synonym: "cancer of cranial nerve" EXACT [MONDO:patterns/cancer]
synonym: "cranial nerve cancer" EXACT [MONDO:patterns/location]
synonym: "cranial nerve malignant neoplasm" RELATED [DOID:2815]
synonym: "cranial nerve neoplasm, malignant" EXACT [NCIT:C3571]
synonym: "malignant cranial nerve neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3571]
synonym: "malignant cranial nerve tumor" EXACT [NCIT:C3571]
synonym: "malignant cranial nerve tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of cranial nerve" EXACT [DOID:2815, MONDO:patterns/cancer, NCIT:C3571]
synonym: "malignant neoplasm of cranial nerves" EXACT [DOID:2815, ICD9CM:192.0]
synonym: "malignant neoplasm of the cranial nerve" EXACT [NCIT:C3571]
synonym: "malignant tumor of cranial nerve" EXACT [NCIT:C3571]
synonym: "malignant tumor of the cranial nerve" EXACT [DOID:2815, NCIT:C3571]
synonym: "malignant tumour of cranial nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of the cranial nerve" EXACT OMO:0003005 []
xref: DOID:2815 {source="MONDO:equivalentTo"}
xref: ICD10CM:C72.50 {source="DOID:2815"}
xref: ICD9:192.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2815"}
xref: MEDGEN:57567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003390 {source="DOID:2815"}
xref: NCIT:C3571 {source="MONDO:equivalentTo", source="DOID:2815"}
xref: SCTID:188307009 {source="MONDO:equivalentTo", source="DOID:2815"}
xref: SCTID:188311003 {source="DOID:2815"}
xref: SCTID:93767009 {source="DOID:2815"}
xref: UMLS:C0153644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57567"}
is_a: MONDO:0002633 {source="DOID:2815", source="MONDO:Redundant", source="NCIT:C3571"} ! cranial nerve neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001785 ! cranial nerve

[Term]
id: MONDO:0002434
name: oculomotor nerve cancer
def: "A cancer involving a oculomotor nerve." [MONDO:patterns/cancer]
synonym: "cancer of oculomotor nerve" EXACT [MONDO:patterns/cancer]
synonym: "IIIrd cranial nerve neoplasm, malignant" EXACT [DOID:2816, NCIT:C6995]
synonym: "malignant neoplasm of oculomotor nerve" EXACT [MONDO:patterns/cancer]
synonym: "malignant oculomotor nerve neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant oculomotor nerve tumor" RELATED [DOID:2816]
synonym: "malignant oculomotor nerve tumour" RELATED OMO:0003005 []
synonym: "oculomotor nerve cancer" EXACT [MONDO:patterns/location]
synonym: "oculomotor nerve neoplasm, malignant" EXACT [NCIT:C6995]
synonym: "primary malignant neoplasm of oculomotor nerve" EXACT [DOID:2816]
xref: DOID:2816 {source="MONDO:equivalentTo"}
xref: MEDGEN:195786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6995 {source="MONDO:equivalentTo", source="DOID:2816"}
xref: SCTID:93929003 {source="MONDO:equivalentTo", source="DOID:2816"}
xref: UMLS:C0686417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195786"}
is_a: MONDO:0002433 {source="DOID:2816/inferred", source="MONDO:Redundant", source="NCIT:C6995"} ! malignant cranial nerve neoplasm
is_a: MONDO:0002435 {source="DOID:2816", source="MONDO:Redundant", source="NCIT:C6995"} ! oculomotor nerve neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001643 ! oculomotor nerve

[Term]
id: MONDO:0002435
name: oculomotor nerve neoplasm
def: "A neoplasm involving a oculomotor nerve." [MONDO:patterns/neoplasm]
synonym: "cranial nerve III tumor" RELATED [DOID:2817]
synonym: "cranial nerve III tumour" RELATED OMO:0003005 []
synonym: "IIIrd cranial nerve tumor" EXACT [NCIT:C6994]
synonym: "IIIrd cranial nerve tumour" EXACT OMO:0003005 []
synonym: "neoplasm of oculomotor nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "oculomotor nerve neoplasm" EXACT [NCIT:C6994]
synonym: "oculomotor nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "oculomotor nerve tumor" EXACT [DOID:2817, MONDO:patterns/neoplasm, NCIT:C6994]
synonym: "oculomotor nerve tumour" EXACT OMO:0003005 []
synonym: "tumor of oculomotor nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of oculomotor nerve" EXACT OMO:0003005 []
xref: DOID:2817 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6994 {source="MONDO:equivalentTo", source="DOID:2817"}
xref: SCTID:126969002 {source="MONDO:equivalentTo", source="DOID:2817"}
xref: UMLS:C1263895 {source="MEDGEN:220391", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002633 {source="DOID:2817/inferred", source="MONDO:Redundant", source="NCIT:C6994"} ! cranial nerve neoplasm
is_a: MONDO:0003546 {source="DOID:2817", source="MONDO:Redundant", source="NCIT:C6994"} ! third cranial nerve disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001643 ! oculomotor nerve

[Term]
id: MONDO:0002436
name: nasal disorder
def: "A disease involving the nose." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of nose" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nose" EXACT []
synonym: "disorder of nose" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the nose" EXACT [DOID:2825]
synonym: "nasal disorder" EXACT [DOID:2825]
synonym: "nose disease" EXACT [https://orcid.org/0000-0002-0736-9199, MONDO:patterns/location]
synonym: "nose disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:2825 {source="MONDO:equivalentTo"}
xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009668 {source="MONDO:equivalentTo", source="DOID:2825"}
xref: SCTID:89488007 {source="MONDO:equivalentTo", source="DOID:2825"}
xref: UMLS:C0028432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10385"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0002-0736-9199"} ! otorhinolaryngologic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000004 ! nose
relationship: excluded_subClassOf MONDO:0004867 {source="DOID:2825", source="https://orcid.org/0000-0001-5208-3432"} ! upper respiratory tract disorder

[Term]
id: MONDO:0002437
name: dehydration polycythemia
def: "Polycythemia resulting from dehydration." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:2833 {source="MONDO:equivalentTo"}
xref: MEDGEN:163544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27310 {source="MONDO:equivalentTo", source="DOID:2833"}
xref: UMLS:C0856815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163544"}
is_a: MONDO:0002438 {source="DOID:2833", source="MONDO:Redundant"} ! acquired polycythemia
is_a: MONDO:0020115 {source="MONDO:Redundant", source="NCIT:C27310"} ! secondary polycythemia
relationship: disease_arises_from_feature HP:0001944 ! Dehydration

[Term]
id: MONDO:0002438
name: acquired polycythemia
def: "An instance of polycythemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acquired polycythemia" EXACT [MONDO:patterns/acquired]
synonym: "acquired polycythemia (disease)" EXACT [MONDO:patterns/acquired]
synonym: "polycythemia, secondary" RELATED EXCLUDE [DOID:2834]
synonym: "secondary polycythemia" RELATED EXCLUDE [DOID:2834]
xref: DOID:2834 {source="MONDO:equivalentTo"}
xref: ICD10CM:D75.1 {source="DOID:2834"}
xref: ICD9:289.0 {source="DOID:2834"}
xref: NCIT:C27178 {source="DOID:2834", source="MONDO:directSiblingOf"}
xref: SCTID:154835002 {source="DOID:2834"}
xref: SCTID:191374009 {source="DOID:2834"}
xref: SCTID:44865000 {source="DOID:2834"}
is_a: MONDO:0005571 {source="DOID:2834", source="MONDO:Entailed", source="MONDO:Redundant"} ! polycythemia
intersection_of: MONDO:0005571 ! polycythemia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0002439
name: obsolete stress polycythemia
is_obsolete: true
replaced_by: MONDO:0019538

[Term]
id: MONDO:0002440
name: erythropoietin polycythemia
def: "Polycythemia that is caused by excess erythropoietin." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "nephrogenous polycythemia" EXACT [DOID:2839]
synonym: "polycythaemia due to Excess erythropoetin production" EXACT [DOID:2839, NCIT:C35434]
synonym: "polycythemia due to excess erythopoetin production" EXACT [DOID:2839, MTH:NOCODE]
synonym: "polycythemia, nephrogenous" EXACT [DOID:2839]
synonym: "secondary polycythemia with excess erythropoietin" EXACT [DOID:2839]
xref: DOID:2839 {source="MONDO:equivalentTo"}
xref: ICD10CM:D75.1 {source="DOID:2839"}
xref: MEDGEN:98214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35434 {source="MONDO:equivalentTo", source="DOID:2839"}
xref: SCTID:367328005 {source="MONDO:equivalentTo", source="DOID:2839"}
xref: SCTID:43918003 {source="DOID:2839"}
xref: UMLS:C0391869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98214"}
is_a: MONDO:0002438 {source="DOID:2839", source="MONDO:Redundant"} ! acquired polycythemia
is_a: MONDO:0020115 {source="MONDO:Redundant", source="NCIT:C35434"} ! secondary polycythemia

[Term]
id: MONDO:0002441
name: Jervell and Lange-Nielsen syndrome
def: "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1310"}
subset: ordo_disorder {source="Orphanet:90647"}
subset: orphanet_rare {source="Orphanet:90647"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [GARD:0003048]
synonym: "deafness, congenital, and functional heart disease" RELATED [GARD:0003048]
synonym: "Jervell and Lange Nielsen syndrome" EXACT [NCIT:C84793]
synonym: "Jervell and Lange-Nielsen syndrome 1" RELATED [MONDO:Lexical, OMIM:220400]
synonym: "Jervell and Lange-Nielsen syndrome type 1" RELATED [MONDORULE:1, OMIM:220400]
synonym: "Jervell and Lange-Nielson syndrome" EXACT [DOID:2842]
synonym: "Jervell Lange-Nielsen syndrome" EXACT [GARD:0003048]
synonym: "Jervell-Lange Nielsen syndrome" EXACT [DOID:2842]
synonym: "JLNS1" RELATED ABBREVIATION [GARD:0003048, OMIM:220400]
synonym: "long QT interval-deafness syndrome" EXACT [Orphanet:90647]
synonym: "prolonged QT interval in EKG and sudden death" RELATED [GARD:0003048]
synonym: "Surdo-cardiac syndrome" RELATED [GARD:0003048]
xref: DOID:2842 {source="MONDO:equivalentTo"}
xref: GARD:3048 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="Orphanet:90647/attributed", source="Orphanet:90647/ntbt", source="Orphanet:90647"}
xref: MedDRA:10057936 {source="Orphanet:90647/e", source="Orphanet:90647"}
xref: MEDGEN:5929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D029593 {source="DOID:2842", source="MONDO:equivalentTo"}
xref: NCIT:C84793 {source="MONDO:equivalentTo"}
xref: NORD:1310 {source="MONDO:NORD"}
xref: OMIMPS:220400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:768 {source="OMIM:220400"}
xref: Orphanet:90647 {source="GARD:0003048", source="MONDO:equivalentTo", source="OMIM:220400"}
xref: SCTID:373905003 {source="DOID:2842", source="MONDO:equivalentTo"}
xref: SCTID:49518001 {source="DOID:2842"}
xref: UMLS:C0022387 {source="MEDGEN:5929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002442 {source="DOID:2842", source="MESH:D029593", source="NCIT:C84793"} ! long QT syndrome
relationship: excluded_subClassOf MONDO:0019171 {source="MONDO:Redundant", source="Orphanet:90647", source="https://orcid.org/0000-0001-5208-3432"} ! familial long QT syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:220400"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome" xsd:anyURI {source="GARD:0003048"}

[Term]
id: MONDO:0002442
name: long QT syndrome
def: "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome." [MESH:D008133]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "long Q-T syndrome" EXACT [DOID:2843]
synonym: "long QT syndrome" EXACT CLINGEN_LABEL []
synonym: "LQT" EXACT ABBREVIATION [DOID:2843]
synonym: "Romano-Ward syndrome" RELATED EXCLUDE [DOID:2843]
synonym: "ventricular arrhythmia associated with long QT syndrome" EXACT [NCIT:C34786]
xref: DOID:2843 {source="MONDO:equivalentTo"}
xref: ICD10CM:I45.81 {source="MONDO:equivalentTo", source="DOID:2843"}
xref: ICD9:426.82 {source="DOID:2843"}
xref: MEDGEN:44193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008133 {source="MONDO:equivalentTo", source="DOID:2843"}
xref: MESH:D029597 {source="DOID:2843"}
xref: NANDO:2100053 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200228 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34786 {source="MONDO:equivalentTo", source="DOID:2843"}
xref: NCIT:C85049 {source="DOID:2843"}
xref: Orphanet:101016 {source="DOID:2843"}
xref: Orphanet:768 {source="DOID:2843"}
xref: SCTID:20852007 {source="DOID:2843"}
xref: SCTID:395649008 {source="DOID:2843"}
xref: SCTID:9651007 {source="DOID:2843"}
xref: UMLS:C0023976 {source="MEDGEN:44193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C34786"} ! syndromic disease
is_a: MONDO:0005453 {source="MESH:D008133"} ! congenital heart disease
relationship: disease_has_feature HP:0011675 ! Arrhythmia
relationship: disease_has_feature MONDO:0005478 ! torsades de pointes
relationship: excluded_subClassOf MONDO:0000591 {source="DOID:2843", source="https://orcid.org/0000-0001-5208-3432"} ! intrinsic cardiomyopathy

[Term]
id: MONDO:0002443
name: bruxism
def: "Excessive clenching of the jaw and grinding of the teeth." [NCIT:P378]
synonym: "bruxism" EXACT [MONDO:ambiguous]
synonym: "bruxism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "bruxism - teeth grinding" EXACT [DOID:2846]
synonym: "grinding teeth" EXACT [DOID:2846]
synonym: "sleep related bruxism" EXACT [DOID:2846]
synonym: "teeth grinding" EXACT [DOID:2846]
xref: DOID:2846 {source="MONDO:equivalentTo"}
xref: HP:0003763 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F45.8 {source="DOID:2846"}
xref: ICD10CM:G47.63 {source="DOID:2846"}
xref: ICD9:327.53 {source="DOID:2846"}
xref: MEDGEN:676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002012 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:2846"}
xref: MESH:D020186 {source="DOID:2846"}
xref: NCIT:C73511 {source="MONDO:otherHierarchy", source="DOID:2846"}
xref: SCTID:154925009 {source="DOID:2846"}
xref: SCTID:191983006 {source="DOID:2846"}
xref: SCTID:192436003 {source="DOID:2846"}
xref: SCTID:268774006 {source="DOID:2846"}
xref: SCTID:274950005 {source="DOID:2846"}
xref: SCTID:367105000 {source="DOID:2846"}
xref: SCTID:90207007 {source="DOID:2846"}
xref: UMLS:C0006325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:676"}
is_a: MONDO:0003406 {source="DOID:2846"} ! sleep-wake disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000589 "bruxism (disease)" xsd:string

[Term]
id: MONDO:0002444
name: melancholia
def: "A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "depression with melancholic features" EXACT [NCIT:C34812]
synonym: "melancholic depression" EXACT [NCIT:C34812]
xref: DOID:2848 {source="MONDO:equivalentObsolete"}
xref: EFO:1002014 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003866 {source="DOID:2848"}
xref: NCIT:C34812 {source="MONDO:equivalentTo", source="DOID:2848"}
xref: SCTID:35489007 {source="DOID:2848"}
xref: UMLS:C0025193 {source="MEDGEN:6288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002050 {source="DOID:2848", source="NCIT:C34812"} ! depressive disorder

[Term]
id: MONDO:0002445
name: obsolete hemoglobin c disease
is_obsolete: true
replaced_by: MONDO:0016242

[Term]
id: MONDO:0002446
name: obsolete hemoglobinopathy
is_obsolete: true
replaced_by: MONDO:0019050

[Term]
id: MONDO:0002447
name: endometrial carcinoma
def: "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation." [NCIT:C7558]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of endometrium" EXACT [MONDO:patterns/carcinoma, NCIT:C7558]
synonym: "carcinoma of the endometrium" EXACT [DOID:2871, NCIT:C7558]
synonym: "carcinoma, endometrial, malignant" EXACT [NCIT:C7558]
synonym: "endometrial cancer" BROAD [NCIT:C7558]
synonym: "endometrial carcinoma" EXACT [MONDO:ambiguous, NCIT:C7558]
synonym: "endometrial carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "endometrioid carcinoma" RELATED EXCLUDE [DOID:2871]
synonym: "endometrioid carcinoma of female reproductive system" RELATED EXCLUDE [DOID:2871, NCIT:C3769]
synonym: "endometrium carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:2871 {source="MONDO:equivalentTo"}
xref: EFO:1001512 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0012114 {source="MONDO:otherHierarchy"}
xref: MEDGEN:96903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016889 {source="DOID:2871"}
xref: MESH:D018269 {source="DOID:2871"}
xref: NCIT:C7558 {source="DOID:2871", source="MONDO:equivalentTo"}
xref: ONCOTREE:UCEC {source="MONDO:equivalentTo"}
xref: SCTID:154526001 {source="DOID:2871"}
xref: SCTID:254878006 {source="DOID:2871", source="MONDO:equivalentTo"}
xref: SCTID:269600001 {source="DOID:2871"}
xref: SCTID:30289006 {source="DOID:2871"}
xref: SCTID:93781006 {source="DOID:2871"}
xref: UMLS:C0476089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96903"}
is_a: MONDO:0004993 {source="DOID:2871", source="MONDO:Redundant", source="NCIT:C7558"} ! carcinoma
is_a: MONDO:0011962 {source="DOID:2871", source="MONDO:Redundant", source="NCIT:C7558"} ! endometrial cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium
property_value: IAO:0000589 "endometrial carcinoma (disease)" xsd:string

[Term]
id: MONDO:0002448
name: laryngeal sarcoma
def: "A rare malignant soft tissue neoplasm that arises from the larynx." [NCIT:C6020]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "laryngeal sarcoma" EXACT [NCIT:C6020]
synonym: "larynx sarcoma" EXACT [MONDO:patterns/location, NCIT:C6020]
synonym: "sarcoma of larynx" EXACT [DOID:2877, MONDO:patterns/sarcoma, NCIT:C6020]
synonym: "sarcoma of the larynx" EXACT [NCIT:C6020]
xref: DOID:2877 {source="MONDO:equivalentTo"}
xref: MEDGEN:233610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6020 {source="MONDO:equivalentTo", source="DOID:2877"}
xref: UMLS:C1334377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233610"}
is_a: MONDO:0002352 {source="DOID:2877", source="MONDO:Redundant", source="NCIT:C6020"} ! larynx cancer
is_a: MONDO:0005089 {source="DOID:2877", source="MONDO:Entailed", source="NCIT:C6020/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C6020"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0002449
name: nodular degeneration of cornea
xref: DOID:2879 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.45 {source="DOID:2879"}
xref: ICD9:371.46 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2879"}
xref: MEDGEN:509799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:72620002 {source="MONDO:equivalentTo", source="DOID:2879"}
xref: UMLS:C0155122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509799"}
is_a: MONDO:0001515 {source="DOID:2879"} ! corneal degeneration

[Term]
id: MONDO:0002450
name: prostatic adenoma
def: "Focal benign glandular hyperplasia in the prostate gland." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma - prostate" EXACT [DOID:2883]
synonym: "adenoma of prostate" EXACT [DOID:2883, NCIT:C4795]
synonym: "adenoma of the prostate" EXACT [NCIT:C4795]
synonym: "benign adenoma of prostate" EXACT [DOID:2883]
synonym: "prostate adenoma" EXACT [DOID:2883, NCIT:C4795]
synonym: "prostate gland adenoma" EXACT [MONDO:patterns/location]
xref: DOID:2883 {source="MONDO:equivalentTo"}
xref: ICD9:600.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:105447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011470 {source="DOID:2883", source="MONDO:directSiblingOf"}
xref: NCIT:C4795 {source="DOID:2883", source="MONDO:equivalentTo"}
xref: SCTID:155906003 {source="DOID:2883"}
xref: SCTID:197957005 {source="DOID:2883"}
xref: SCTID:21173002 {source="DOID:2883", source="MONDO:equivalentTo"}
xref: SCTID:266569009 {source="DOID:2883", source="MONDO:directSiblingOf"}
xref: SCTID:270536001 {source="DOID:2883"}
xref: UMLS:C0520477 {source="MONDO:equivalentTo", source="MEDGEN:105447", source="MONDO:MEDGEN"}
is_a: MONDO:0000625 {source="DOID:2883", source="NCIT:C4795/inferred"} ! benign male reproductive system neoplasm
is_a: MONDO:0003105 {source="DOID:2883", source="MONDO:Redundant", source="NCIT:C4795/inferred"} ! prostate disorder
is_a: MONDO:0004972 {source="DOID:2883", source="MONDO:Redundant", source="NCIT:C4795"} ! adenoma
is_a: MONDO:0021510 {source="MONDO:Redundant", source="NCIT:C4795"} ! benign neoplasm of prostate
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0002451
name: benign prostate phyllodes tumor
def: "A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells." [NCIT:C5532]
subset: inferred_rare
subset: rare
synonym: "benign phyllodes neoplasm of prostate" EXACT [NCIT:C5532]
synonym: "benign phyllodes neoplasm of the prostate" EXACT [DOID:2885, NCIT:C5532]
synonym: "benign phyllodes tumor of prostate" EXACT [NCIT:C5532]
synonym: "benign phyllodes tumor of the prostate" EXACT [NCIT:C5532]
synonym: "benign phyllodes tumour of prostate" EXACT OMO:0003005 []
synonym: "benign phyllodes tumour of the prostate" EXACT OMO:0003005 []
synonym: "benign prostate phyllodes neoplasm" EXACT [NCIT:C5532]
synonym: "benign prostate phyllodes tumor" EXACT [NCIT:C5532]
synonym: "phyllodes neoplasm of the prostate" BROAD [DOID:2885, NCIT:C7574]
synonym: "prostate phyllodes tumor" BROAD [DOID:2885]
synonym: "prostate phyllodes tumor, benign" EXACT [MONDO:patterns/benign]
synonym: "prostate phyllodes tumour" BROAD OMO:0003005 []
xref: DOID:2885 {source="MONDO:equivalentTo"}
xref: MEDGEN:272364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5532 {source="MONDO:equivalentTo", source="DOID:2885"}
xref: NCIT:C7574 {source="DOID:2885"}
xref: UMLS:C1332535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272364"}
is_a: MONDO:0000625 {source="DOID:2885", source="NCIT:C5532/inferred"} ! benign male reproductive system neoplasm
is_a: MONDO:0021102 {source="MONDO:Redundant", source="NCIT:C5532"} ! prostate phyllodes tumor
is_a: MONDO:0021510 {source="MONDO:Redundant", source="NCIT:C5532"} ! benign neoplasm of prostate
is_a: MONDO:0037002 {source="MONDO:Redundant", source="NCIT:C5532"} ! benign phyllodes tumor
intersection_of: MONDO:0021102 ! prostate phyllodes tumor
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0002452
name: prostate leiomyoma
def: "A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5544]
synonym: "leiomyoma of prostate" EXACT [NCIT:C5544]
synonym: "leiomyoma of prostate gland" EXACT [MONDO:design_pattern]
synonym: "leiomyoma of the prostate" EXACT [NCIT:C5544]
synonym: "prostate gland leiomyoma" EXACT [MONDO:patterns/location]
synonym: "prostate leiomyoma" EXACT [NCIT:C5544]
synonym: "prostatic leiomyoma" EXACT [DOID:2887, NCIT:C5544]
xref: DOID:2887 {source="MONDO:equivalentTo"}
xref: MEDGEN:233875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5544 {source="MONDO:equivalentTo", source="DOID:2887", source="MONDO:exact-label-match"}
xref: UMLS:C1335510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233875"}
is_a: MONDO:0000625 {source="DOID:2887", source="NCIT:C5544/inferred"} ! benign male reproductive system neoplasm
is_a: MONDO:0001572 {source="DOID:2887", source="MONDO:Redundant", source="NCIT:C5544"} ! leiomyoma
is_a: MONDO:0003105 {source="DOID:2887", source="MONDO:Redundant", source="NCIT:C5544/inferred"} ! prostate disorder
is_a: MONDO:0021510 {source="MONDO:Redundant", source="NCIT:C5544"} ! benign neoplasm of prostate
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0002453
name: retrocochlear disease
def: "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." [MESH:D012181]
xref: DOID:2889 {source="MONDO:equivalentTo"}
xref: MEDGEN:11216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012181 {source="MONDO:equivalentTo", source="DOID:2889"}
xref: UMLS:C0035352 {source="MEDGEN:11216", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002409 {source="DOID:2889"} ! auditory system disorder

[Term]
id: MONDO:0002454
name: obsolete thyroid adenoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005032

[Term]
id: MONDO:0002455
name: exocervical carcinoma
def: "A carcinoma that arises from the squamous epithelium of the exocervix." [NCIT:C7453]
synonym: "carcinoma of ectocervix" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of exocervix" EXACT [DOID:2892, NCIT:C7453]
synonym: "carcinoma of the exocervix" EXACT [DOID:2892, NCIT:C7453]
synonym: "ectocervix carcinoma" EXACT [MONDO:patterns/location]
synonym: "exocervical cancer" EXACT [NCIT:C7453]
synonym: "exocervical carcinoma" EXACT [NCIT:C7453]
synonym: "exocervix carcinoma" EXACT [NCIT:C7453]
xref: DOID:2892 {source="MONDO:equivalentTo"}
xref: MEDGEN:226967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7453 {source="DOID:2892", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:372100004 {source="DOID:2892", source="MONDO:equivalentTo"}
xref: UMLS:C1299238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226967"}
is_a: MONDO:0005131 {source="DOID:2892", source="MONDO:Redundant", source="NCIT:C7453"} ! cervical carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0012249 ! ectocervix

[Term]
id: MONDO:0002456
name: obsolete cervix carcinoma
is_obsolete: true
replaced_by: MONDO:0005131

[Term]
id: MONDO:0002457
name: Treacher-Collins syndrome
def: "A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." [https://orcid.org/0000-0001-5208-3432, Orphanet:861]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1785"}
subset: ordo_disorder {source="Orphanet:861"}
subset: ordo_malformation_syndrome {source="Orphanet:861"}
subset: orphanet_rare {source="Orphanet:861"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Franceschetti syndrome" EXACT [DOID:2908]
synonym: "Franceschetti-Klein syndrome" EXACT [Orphanet:861]
synonym: "mandibulofacial dysostosis" RELATED EXCLUDE [DOID:2908]
synonym: "mandibulofacial dysostosis without limb anomalies" EXACT [Orphanet:861]
synonym: "MFD1" RELATED ABBREVIATION [GARD:0009124]
synonym: "TCOF" RELATED ABBREVIATION [GARD:0009124]
synonym: "TCS" RELATED ABBREVIATION [GARD:0009124]
synonym: "Treacher Collins Syndrome" EXACT [NORD:1785]
synonym: "Treacher Collins syndrome" EXACT [DOID:2908]
synonym: "Treacher-Collins syndrome" EXACT CLINGEN_LABEL []
xref: DOID:2908 {source="MONDO:equivalentTo"}
xref: GARD:9124 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="DOID:2908", source="Orphanet:861/ntbt", source="Orphanet:861/inclusion", source="Orphanet:861"}
xref: MedDRA:10051456 {source="Orphanet:861/e", source="Orphanet:861"}
xref: MEDGEN:66078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008342 {source="DOID:2908"}
xref: NCIT:C75018 {source="DOID:2908", source="MONDO:equivalentTo"}
xref: NORD:1785 {source="MONDO:NORD"}
xref: OMIMPS:154500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:861 {source="MONDO:equivalentTo", source="OMIM:154500"}
xref: SCTID:205416009 {source="DOID:2908"}
xref: SCTID:205804007 {source="DOID:2908"}
xref: SCTID:62767009 {source="MONDO:equivalentTo"}
xref: SCTID:82203000 {source="DOID:2908"}
xref: UMLS:C0242387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66078"}
is_a: MONDO:0000426 {source="DOID:2908", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75018"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:861"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015483 {source="Orphanet:861"} ! mandibulofacial dysostosis
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: disease_has_feature HP:0009743 {source="Orphanet:861"} ! Distichiasis
relationship: excluded_subClassOf MONDO:0015334 {source="Orphanet:861", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete branchial arch or oral-acral syndrome
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0020157 {source="Orphanet:861", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic palpebral coloboma
relationship: excluded_subClassOf MONDO:0020167 {source="Orphanet:861", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malposition of external canthus
relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:861", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes distichiasis
relationship: has_characteristic HP:0000006 {source="Orphanet:861"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:154500"} ! inherited

[Term]
id: MONDO:0002458
name: obsolete acute pancreatitis
is_obsolete: true
replaced_by: MONDO:0006515

[Term]
id: MONDO:0002459
name: type IV hypersensitivity disease
def: "A disease that has its basis in the disruption of type IV hypersensitivity." [MONDO:patterns/basis_in_disruption_of_process]
comment: We make this equivalent with the UMLS concept for the reaction
subset: otar {source="MONDO:OTAR"}
synonym: "delayed hypersensitivity reaction" EXACT [NCIT:C3115]
synonym: "delayed-type hypersensitivity" EXACT [NCIT:C3115]
synonym: "delayed-type hypersensitivity response" EXACT [NCIT:C3115]
synonym: "disorder of type IV hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "DTH" EXACT ABBREVIATION [NCIT:C3115]
synonym: "hypersensitivity reaction type IV disease" RELATED [DOID:2916]
synonym: "immunoproliferative disease" RELATED [DOID:2916]
synonym: "type 4 hypersensitivity reaction" EXACT [NCIT:C3115]
synonym: "type IV hypersensitivity" EXACT [NCIT:C3115]
synonym: "type IV hypersensitivity reaction" EXACT [NCIT:C3115]
xref: DOID:2916 {source="MONDO:equivalentTo"}
xref: ICD10CM:C88.9 {source="DOID:2916"}
xref: MEDGEN:9371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007160 {source="DOID:2916"}
xref: NCIT:C3115 {source="MONDO:equivalentTo"}
xref: SCTID:127071007 {source="DOID:2916"}
xref: SCTID:134363002 {source="DOID:2916"}
xref: SCTID:86295000 {source="DOID:2916"}
xref: UMLS:C0020522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9371"}
is_a: MONDO:0000605 {source="DOID:2916", source="MONDO:Entailed", source="NCIT:C3115"} ! hypersensitivity reaction disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0001806 ! type IV hypersensitivity

[Term]
id: MONDO:0002460
name: lacrimal system cancer
def: "A cancer that involves the lacrimal apparatus." [MONDO:patterns/location]
synonym: "cancer of lacrimal apparatus" EXACT [MONDO:patterns/cancer]
synonym: "lacrimal apparatus cancer" EXACT []
synonym: "lacrimal system neoplasm" EXACT [DOID:292]
synonym: "lacrimal system neoplasms" EXACT [NCIT:C5102]
synonym: "lacrimal system tumor" EXACT [NCIT:C5102]
synonym: "lacrimal system tumour" EXACT OMO:0003005 []
synonym: "malignant lacrimal apparatus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lacrimal apparatus" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of lacrimal system" EXACT [NCIT:C5102]
synonym: "neoplasm of the lacrimal system" EXACT [NCIT:C5102]
synonym: "tumor of lacrimal system" EXACT [NCIT:C5102]
synonym: "tumor of the lacrimal system" EXACT [DOID:292, NCIT:C5102]
synonym: "tumour of lacrimal system" EXACT OMO:0003005 []
synonym: "tumour of the lacrimal system" EXACT OMO:0003005 []
xref: DOID:292 {source="MONDO:equivalentTo"}
xref: MEDGEN:272790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5102 {source="MONDO:equivalentTo", source="DOID:292"}
xref: SCTID:416510003 {source="MONDO:equivalentTo", source="DOID:292"}
xref: UMLS:C1334361 {source="MONDO:equivalentTo", source="MEDGEN:272790", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001750 ! lacrimal apparatus
relationship: excluded_subClassOf MONDO:0002236 {source="DOID:292", source="https://orcid.org/0000-0001-5208-3432"} ! ocular cancer

[Term]
id: MONDO:0002461
name: membranoproliferative glomerulonephritis
def: "Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chronic glomerulonephritis, lobular" EXACT [DOID:2920]
synonym: "lobular glomerulonephritis" EXACT [DOID:2920]
synonym: "membranoproliferative glomerulonephritis" EXACT [MONDO:ambiguous]
synonym: "membranoproliferative glomerulonephritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2920 {source="MONDO:equivalentTo"}
xref: HP:0000793 {source="MONDO:otherHierarchy"}
xref: MEDGEN:9033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015432 {source="MONDO:equivalentTo", source="DOID:2920"}
xref: NANDO:1200737 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200123 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34644 {source="MONDO:equivalentTo"}
xref: SCTID:80321008 {source="MONDO:equivalentTo", source="DOID:2920"}
xref: UMLS:C0017662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9033"}
is_a: MONDO:0002462 {source="DOID:2920"} ! glomerulonephritis
property_value: IAO:0000589 "membranoproliferative glomerulonephritis (disease)" xsd:string

[Term]
id: MONDO:0002462
name: glomerulonephritis
def: "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies." [NCIT:P378]
subset: gard_rare {source="GARD:6516", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bright's disease" RELATED [GARD:0006516]
synonym: "glomerular nephritis" EXACT [NCIT:C26784]
synonym: "glomerulonephritis" EXACT [MONDO:ambiguous]
synonym: "glomerulonephritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nephritis of renal glomerulus" EXACT [MONDO:design_pattern]
synonym: "renal glomerulus nephritis" EXACT [MONDO:patterns/location]
xref: DOID:2921 {source="MONDO:equivalentTo"}
xref: GARD:6516 {source="MONDO:GARD"}
xref: HP:0000099 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N05 {source="DOID:2921"}
xref: ICD10CM:N08 {source="DOID:2921"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005921 {source="MONDO:equivalentTo", source="DOID:2921"}
xref: NCIT:C26784 {source="MONDO:equivalentTo", source="DOID:2921"}
xref: SCTID:197648001 {source="DOID:2921"}
xref: SCTID:36171008 {source="MONDO:equivalentTo", source="DOID:2921"}
xref: UMLS:C0017658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6616"}
is_a: MONDO:0001166 {source="DOID:2921", source="MESH:D005921", source="MONDO:Redundant", source="NCIT:C26784"} ! nephritis
is_a: MONDO:0019722 {source="MONDO:Redundant"} ! glomerular disorder
intersection_of: MONDO:0001166 ! nephritis
intersection_of: disease_has_location UBERON:0000074 ! renal glomerulus
property_value: IAO:0000589 "glomerulonephritis (disease)" xsd:string

[Term]
id: MONDO:0002463
name: lacrimal gland carcinoma
def: "A carcinoma that arises from epithelial cells of the lacrimal gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of lacrimal gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6129]
synonym: "carcinoma of the lacrimal gland" EXACT [DOID:293, NCIT:C6129]
synonym: "lacrimal gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6129]
xref: DOID:293 {source="MONDO:equivalentTo"}
xref: MEDGEN:233606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6129 {source="DOID:293", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233606"}
is_a: MONDO:0002464 {source="DOID:293", source="MONDO:Redundant", source="NCIT:C6129"} ! lacrimal gland cancer
is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C6129"} ! eye carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0002464
name: lacrimal gland cancer
def: "A malignant neoplasm involving the lacrimal gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of lacrimal gland" EXACT [MONDO:patterns/cancer]
synonym: "lacrimal gland cancer" EXACT [MONDO:patterns/location]
synonym: "malignant lacrimal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3563]
synonym: "malignant lacrimal gland tumor" EXACT [NCIT:C3563]
synonym: "malignant lacrimal gland tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of lacrimal gland" EXACT [DOID:294, MONDO:patterns/cancer, NCIT:C3563]
synonym: "malignant neoplasm of the lacrimal gland" EXACT [NCIT:C3563]
synonym: "malignant tumor of lacrimal gland" EXACT [DOID:294, NCIT:C3563]
synonym: "malignant tumor of the lacrimal gland" EXACT [NCIT:C3563]
synonym: "malignant tumour of lacrimal gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the lacrimal gland" EXACT OMO:0003005 []
synonym: "neoplasm of lacrimal gland" BROAD EXCLUDE [DOID:294]
synonym: "tumor of the lacrimal gland" BROAD [DOID:294, NCIT:C4360]
synonym: "tumour of the lacrimal gland" BROAD OMO:0003005 []
xref: DOID:294 {source="MONDO:equivalentTo"}
xref: ICD9:190.2 {source="DOID:294"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3563 {source="MONDO:equivalentTo", source="DOID:294"}
xref: NCIT:C4360 {source="DOID:294"}
xref: SCTID:127004000 {source="MONDO:equivalentTo", source="DOID:294"}
xref: SCTID:188271007 {source="DOID:294"}
xref: SCTID:188272000 {source="DOID:294"}
xref: SCTID:93853008 {source="DOID:294"}
xref: UMLS:C0153627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56315"}
is_a: MONDO:0001854 {source="MONDO:Redundant"} ! lacrimal apparatus disorder
is_a: MONDO:0002236 {source="DOID:294/inferred", source="MONDO:Redundant", source="NCIT:C3563"} ! ocular cancer
is_a: MONDO:0002460 {source="DOID:294", source="MONDO:Redundant", source="NCIT:C3563/inferred"} ! lacrimal system cancer
is_a: MONDO:0021222 {source="MONDO:Redundant", source="NCIT:C3563"} ! lacrimal gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0002465
name: bronchiolitis
def: "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bronchiolitis" EXACT [MONDO:ambiguous]
synonym: "bronchiolitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "RSV bronchiolitis" NARROW [https://github.com/monarch-initiative/mondo/issues/619]
synonym: "viral bronchiolitis" NARROW [https://github.com/monarch-initiative/mondo/issues/619]
synonym: "wheezy bronchitis" EXACT [NCIT:C39658]
xref: DOID:2942 {source="MONDO:equivalentTo"}
xref: HP:0011950 {source="MONDO:otherHierarchy"}
xref: ICD9:466.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001988 {source="MONDO:equivalentTo", source="DOID:2942"}
xref: NCIT:C39658 {source="MONDO:equivalentTo", source="DOID:2942"}
xref: SCTID:4120002 {source="MONDO:equivalentTo", source="DOID:2942"}
xref: UMLS:C0006271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14235"}
is_a: MONDO:0005275 {source="DOID:2942", source="MESH:D001988/inferred", source="NCIT:C39658/inferred"} ! lung disorder
property_value: IAO:0000589 "bronchiolitis (disease)" xsd:string

[Term]
id: MONDO:0002466
name: eye carcinoma
def: "A carcinoma that arises from epithelial cells of the eye" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of eye" EXACT [DOID:295, MONDO:patterns/carcinoma, NCIT:C6079]
synonym: "carcinoma of eyeball of camera-type eye" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the eye" EXACT [NCIT:C6079]
synonym: "eye carcinoma" EXACT [MONDO:patterns/location, NCIT:C6079]
synonym: "eyeball of camera-type eye carcinoma" EXACT []
synonym: "ocular carcinoma" EXACT [DOID:295, NCIT:C6079]
xref: DOID:295 {source="MONDO:equivalentTo"}
xref: MEDGEN:208855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6079 {source="MONDO:equivalentTo", source="DOID:295", source="MONDO:exact-label-match"}
xref: UMLS:C0848866 {source="MEDGEN:208855", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002236 {source="DOID:295", source="MONDO:Redundant", source="NCIT:C6079"} ! ocular cancer
is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C6079"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0002467
name: inner ear disorder
def: "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." [NCIT:C27166]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of internal ear" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of internal ear" EXACT []
synonym: "disorder of internal ear" EXACT [MONDO:patterns/location_top]
synonym: "inner Ear disorder" EXACT [NCIT:C27166]
synonym: "internal ear disease" EXACT [MONDO:patterns/location]
synonym: "internal ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "internal Ear disorder" EXACT [NCIT:C27166]
synonym: "labyrinthine disease" EXACT [DOID:2952]
synonym: "vestibular disorder" NARROW [NCIT:C27166]
xref: DOID:2952 {source="MONDO:equivalentTo"}
xref: EFO:0009672 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H80-H83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:2952", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H83.9 {source="DOID:2952"}
xref: ICD10CM:H83.90 {source="DOID:2952"}
xref: MEDGEN:141671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007759 {source="DOID:2952", source="MONDO:equivalentTo"}
xref: NCIT:C27166 {source="DOID:2952", source="MONDO:equivalentTo"}
xref: SCTID:194690003 {source="DOID:2952"}
xref: SCTID:20425006 {source="DOID:2952"}
xref: SCTID:232297009 {source="DOID:2952", source="MONDO:equivalentTo"}
xref: SCTID:267761002 {source="DOID:2952"}
xref: SCTID:267763004 {source="DOID:2952"}
xref: SCTID:286945007 {source="DOID:2952"}
xref: UMLS:C0494559 {source="MEDGEN:141671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002409 {source="DOID:2952"} ! auditory system disorder
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27166"} ! disorder of ear
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001846 ! internal ear
relationship: disease_has_location UBERON:0001846 {source="NCIT:C27166"} ! internal ear

[Term]
id: MONDO:0002468
name: hyperimmunoglobulin syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperimmunoglobulin syndrome" EXACT [NCIT:C27579]
xref: DOID:2959 {source="MONDO:equivalentTo"}
xref: MEDGEN:272730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27579 {source="MONDO:equivalentTo", source="DOID:2959"}
xref: UMLS:C1334069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272730"}
is_a: MONDO:0002211 {source="DOID:2959"} ! B cell deficiency
is_a: MONDO:0003847 {source="NCIT:C27579"} ! hereditary disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0019814 ! immunoglobulin complex

[Term]
id: MONDO:0002469
name: lacrimal gland carcinoma ex pleomorphic adenoma
alt_id: MONDO:0021278
def: "A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland." [NCIT:C6804]
synonym: "carcinoma ex pleomorphic adenoma of lacrimal gland" EXACT [NCIT:C6804]
synonym: "carcinoma Ex pleomorphic adenoma of the lacrimal gland" EXACT [DOID:296, NCIT:C6804]
synonym: "carcinoma ex pleomorphic adenoma of the lacrimal gland" EXACT [NCIT:C6804]
synonym: "lacrimal gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C6804]
synonym: "lacrimal gland malignant mixed neoplasm" EXACT [MONDO:patterns/location, NCIT:C6804]
synonym: "lacrimal gland malignant mixed tumor" EXACT [NCIT:C6804]
synonym: "lacrimal gland malignant mixed tumour" EXACT OMO:0003005 []
synonym: "malignant mixed neoplasm of lacrimal gland" EXACT [DOID:296, NCIT:C6090, NCIT:C6804]
synonym: "malignant mixed neoplasm of the lacrimal gland" EXACT [NCIT:C6804]
synonym: "malignant mixed tumor of lacrimal gland" EXACT [NCIT:C6804]
synonym: "malignant mixed tumor of the lacrimal gland" EXACT [NCIT:C6804]
synonym: "malignant mixed tumour of lacrimal gland" EXACT OMO:0003005 []
synonym: "malignant mixed tumour of the lacrimal gland" EXACT OMO:0003005 []
synonym: "mixed lacrimal gland cancer" RELATED [DOID:296]
xref: DOID:296 {source="MONDO:equivalentTo"}
xref: MEDGEN:138058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6804 {source="MONDO:equivalentTo", source="DOID:296"}
xref: SCTID:254989000 {source="MONDO:equivalentTo", source="DOID:296"}
xref: UMLS:C0346342 {source="MEDGEN:138058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002463 {source="MONDO:Redundant", source="NCIT:C6804"} ! lacrimal gland carcinoma
is_a: MONDO:0002464 {source="DOID:296", source="MONDO:Redundant", source="NCIT:C6804/inferred"} ! lacrimal gland cancer
is_a: MONDO:0002472 {source="MONDO:Redundant", source="NCIT:C6804"} ! carcinoma ex pleomorphic adenoma
is_a: MONDO:0005853 {source="DOID:296", source="MONDO:Redundant", source="NCIT:C6804/inferred"} ! malignant mixed neoplasm
intersection_of: MONDO:0002472 ! carcinoma ex pleomorphic adenoma
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0002470
name: photosensitive trichothiodystrophy
def: "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway" [Wikipedia:Trichothiodystrophy#Photosensitive_forms]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IBIDS syndrome" EXACT [DOID:2960, Orphanet:453]
synonym: "Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature" RELATED [GARD:0002944]
synonym: "sulfur-deficient brittle hair syndrome" EXACT [DOID:2960]
synonym: "Tay syndrome" EXACT [DOID:2960]
synonym: "trichothiodystrophy" BROAD [DOID:2960, NCIT:C4924]
synonym: "trichothiodystrophy with congenital ichthyosis" BROAD [DOID:2960]
synonym: "trichothiodystrophy with congenital ichtyosis" RELATED [GARD:0002944]
xref: DOID:2960 {source="MONDO:equivalentTo"}
xref: MEDGEN:336339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054463 {source="DOID:2960"}
xref: NANDO:1200626 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4924 {source="MONDO:relatedTo", source="DOID:2960"}
xref: Orphanet:453 {source="MONDO:equivalentObsolete", source="GARD:0002944"}
xref: UMLS:C1848412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336339"}
intersection_of: MONDO:0018053 ! trichothiodystrophy
intersection_of: disease_has_basis_in_disruption_of GO:0006289 ! nucleotide-excision repair
intersection_of: realized_in_response_to ECTO:0000006 ! exposure to ultraviolet radiation

[Term]
id: MONDO:0002471
name: bursitis
def: "Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." [MESH:D002062]
subset: otar {source="MONDO:OTAR"}
synonym: "adhesive Capsulitides" RELATED [MESH:D002062]
synonym: "adhesive Capsulitides, shoulder" RELATED [MESH:D002062]
synonym: "adhesive capsulitis" RELATED [MESH:D002062]
synonym: "adhesive capsulitis of the shoulder" RELATED [MESH:D002062]
synonym: "adhesive capsulitis, shoulder" RELATED [MESH:D002062]
synonym: "Bursitides" RELATED [MESH:D002062]
synonym: "Capsulitides" RELATED [MESH:D002062]
synonym: "Capsulitides, adhesive" RELATED [MESH:D002062]
synonym: "Capsulitides, shoulder adhesive" RELATED [MESH:D002062]
synonym: "capsulitis" RELATED [MESH:D002062]
synonym: "capsulitis, adhesive" RELATED [MESH:D002062]
synonym: "capsulitis, shoulder adhesive" RELATED [MESH:D002062]
synonym: "frozen shoulder" RELATED [MESH:D002062]
synonym: "frozen shoulders" RELATED [MESH:D002062]
synonym: "inflammation of synovial bursa" EXACT []
synonym: "shoulder adhesive Capsulitides" RELATED [MESH:D002062]
synonym: "shoulder adhesive capsulitis" RELATED [MESH:D002062]
synonym: "shoulder, frozen" RELATED [MESH:D002062]
synonym: "shoulders, frozen" RELATED [MESH:D002062]
synonym: "synovial bursa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2965 {source="MONDO:equivalentTo"}
xref: ICD10CM:M71.9 {source="DOID:2965"}
xref: ICD9:727.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002062 {source="MONDO:equivalentTo", source="DOID:2965"}
xref: NCIT:C94407 {source="MONDO:equivalentTo", source="DOID:2965"}
xref: SCTID:156677003 {source="DOID:2965"}
xref: SCTID:156686008 {source="DOID:2965"}
xref: SCTID:202935009 {source="DOID:2965"}
xref: SCTID:268000007 {source="DOID:2965"}
xref: SCTID:84017003 {source="MONDO:equivalentTo", source="DOID:2965"}
xref: UMLS:C0006444 {source="MEDGEN:691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:2965", source="MESH:D002062"} ! arthropathy
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0003668 ! synovial bursa

[Term]
id: MONDO:0002472
name: carcinoma ex pleomorphic adenoma
def: "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases." [NCIT:C4397]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma ex pleomorphic adenoma" EXACT [NCIT:C4397]
synonym: "carcinoma ex pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:297]
synonym: "carcinoma in pleomorphic adenoma" EXACT [DOID:297, NCIT:C4397]
xref: ICDO:8941/3 {source="NCIT:C4397"}
xref: MEDGEN:87486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4397 {source="MONDO:equivalentTo", source="DOID:297"}
xref: SCTID:17264009 {source="DOID:297"}
xref: SCTID:189811003 {source="DOID:297"}
xref: UMLS:C0344460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87486"}
is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C4397", source="NCIT:C4397/inferred"} ! carcinoma
is_a: MONDO:0005853 {source="NCIT:C4397"} ! malignant mixed neoplasm
relationship: disease_arises_from_structure CL:0000185 {source="NCIT:C4397"} ! myoepithelial cell

[Term]
id: MONDO:0002473
name: cystic kidney disease
def: "A congenital or acquired kidney disorder characterized by the presence of renal cysts." [NCIT:C34750]
subset: otar {source="MONDO:OTAR"}
synonym: "cystic renal disease" EXACT [PMID:15271365]
synonym: "kidney cyst" EXACT [DOID:2975, MTH:646]
synonym: "renal cyst" EXACT [DOID:2975, NCIT:C3970]
xref: DOID:2975 {source="MONDO:equivalentTo"}
xref: EFO:0008615 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q61 {source="MONDO:equivalentTo"}
xref: MEDGEN:854361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052177 {source="MONDO:equivalentTo", source="DOID:2975"}
xref: NANDO:2200172 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34750 {source="MONDO:equivalentTo"}
xref: SCTID:722223000 {source="MONDO:equivalentTo"}
xref: UMLS:C3887499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854361"}
is_a: MONDO:0005240 {source="DOID:2975", source="MESH:D052177", source="MONDO:Redundant", source="NCIT:C34750/inferred"} ! kidney disorder
intersection_of: MONDO:0005240 ! kidney disorder
intersection_of: disease_has_feature HP:0000107 ! Renal cyst

[Term]
id: MONDO:0002474
name: primary hyperoxaluria
def: "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." [NCIT:P378]
subset: gard_rare {source="GARD:16530", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1608", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:416"}
subset: orphanet_rare {source="Orphanet:416"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperoxaluria, primary" EXACT [OMIMPS:259900]
synonym: "primary hyperoxaluria" EXACT [MONDO:0018478]
xref: DOID:2977 {source="MONDO:equivalentTo"}
xref: GARD:16530 {source="MONDO:GARD"}
xref: ICD10CM:E72.53 {source="DOID:2977"}
xref: ICD10CM:E74.8 {source="Orphanet:416/ntbt", source="Orphanet:416/inclusion", source="Orphanet:416"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10020703 {source="Orphanet:416", source="Orphanet:416/e"}
xref: MEDGEN:5697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006959 {source="Orphanet:416", source="Orphanet:416/e", source="DOID:2977"}
xref: MESH:D006960 {source="MONDO:equivalentTo", source="DOID:2977"}
xref: NANDO:2200503 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123158 {source="MONDO:equivalentTo", source="DOID:2977"}
xref: NORD:1608 {source="MONDO:NORD"}
xref: OMIMPS:259900 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:416 {source="MONDO:equivalentTo"}
xref: SCTID:17901006 {source="MONDO:equivalentTo", source="DOID:2977"}
xref: SCTID:190766003 {source="DOID:2977"}
xref: SCTID:367621000119107 {source="DOID:2977"}
xref: UMLS:C0020501 {source="MEDGEN:5697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:D006960/inferred", source="MONDO:Redundant", source="NCIT:C123158", source="Orphanet:416/inferred"} ! hereditary disease
is_a: MONDO:0019214 {source="DOID:2977"} ! inborn carbohydrate metabolic disorder
relationship: excluded_subClassOf MONDO:0005240 {source="DOID:2977", source="MESH:D006960/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: excluded_subClassOf MONDO:0017703 {source="Orphanet:416", source="https://github.com/monarch-initiative/mondo/issues/2632", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glyoxylate metabolism
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:416", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:259900"} ! inherited

[Term]
id: MONDO:0002475
name: lacrimal gland adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the lacrimal gland" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of lacrimal gland" EXACT [DOID:298, NCIT:C4541]
synonym: "adenocarcinoma of the lacrimal gland" EXACT [NCIT:C4541]
synonym: "lacrimal gland adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4541]
xref: DOID:298 {source="MONDO:equivalentTo"}
xref: MEDGEN:87556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4541 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:298"}
xref: SCTID:254988008 {source="MONDO:equivalentTo", source="DOID:298"}
xref: UMLS:C0346341 {source="MEDGEN:87556", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002463 {source="DOID:298", source="MONDO:Redundant", source="NCIT:C4541"} ! lacrimal gland carcinoma
is_a: MONDO:0004970 {source="DOID:298", source="MONDO:Redundant", source="NCIT:C4541"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0002476
name: anuria
def: "Absence of urine output." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "suppression of urinary secretion" EXACT [DOID:2983]
xref: DOID:2983 {source="MONDO:equivalentTo"}
xref: EFO:0009530 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001002 {source="DOID:2983", source="MONDO:equivalentTo"}
xref: NCIT:C114699 {source="DOID:2983", source="MONDO:otherHierarchy"}
xref: SCTID:139460001 {source="DOID:2983"}
xref: SCTID:158479000 {source="DOID:2983"}
xref: SCTID:207182009 {source="DOID:2983"}
xref: SCTID:2472002 {source="DOID:2983"}
xref: UMLS:C0003460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358"}
is_a: MONDO:0005240 {source="DOID:2983", source="MESH:D001002"} ! kidney disorder

[Term]
id: MONDO:0002477
name: prostate neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas." [NCIT:C5545]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuroendocrine neoplasm of prostate" EXACT [NCIT:C5545]
synonym: "neuroendocrine neoplasm of prostate gland" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of the prostate" EXACT [NCIT:C5545]
synonym: "neuroendocrine tumor of the prostate" EXACT [DOID:2992, NCIT:C5545]
synonym: "neuroendocrine tumour of the prostate" EXACT OMO:0003005 []
synonym: "prostate gland NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "prostate gland neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "prostate gland neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "prostate gland neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "prostate neuroendocrine carcinoma" RELATED [ONCOTREE:PRNE]
synonym: "prostate neuroendocrine neoplasm" EXACT [NCIT:C5545]
xref: DOID:2992 {source="MONDO:equivalentTo"}
xref: MEDGEN:277537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5545 {source="DOID:2992", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PRNE {source="MONDO:equivalentTo"}
xref: UMLS:C1335515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277537"}
is_a: MONDO:0003105 {source="DOID:2992/inferred", source="MONDO:Redundant", source="NCIT:C5545/inferred"} ! prostate disorder
is_a: MONDO:0019496 {source="DOID:2992", source="MONDO:Redundant", source="NCIT:C5545"} ! neuroendocrine neoplasm
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C5545", source="ONCOTREE:PRNE"} ! prostate neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0002478
name: mixed germ cell-sex cord-stromal tumor
def: "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." [NCIT:C5241]
synonym: "mixed germ cell-Sex cord neoplasm" EXACT [NCIT:C5241]
synonym: "mixed germ cell-Sex cord tumor" EXACT [DOID:2996, NCIT:C5241]
synonym: "mixed germ cell-Sex cord tumour" EXACT OMO:0003005 []
synonym: "mixed germ cell-Sex cord-stromal neoplasm" EXACT [NCIT:C5241]
synonym: "mixed germ cell-Sex cord-stromal tumor" EXACT [NCIT:C5241]
synonym: "mixed germ cell-sex cord-stromal tumor (morphologic abnormality)" EXACT [DOID:2996]
synonym: "mixed germ cell-Sex cord-stromal tumour" EXACT OMO:0003005 []
synonym: "mixed germ cell-sex cord-stromal tumour (morphologic abnormality)" EXACT OMO:0003005 []
xref: DOID:2996 {source="MONDO:equivalentTo"}
xref: MEDGEN:232941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5241 {source="DOID:2996", source="MONDO:equivalentTo"}
xref: SCTID:406096006 {source="DOID:2996"}
xref: SCTID:703601005 {source="DOID:2996"}
xref: UMLS:C1321220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232941"}
is_a: MONDO:0021043 {source="NCIT:C5241"} ! mixed neoplasm

[Term]
id: MONDO:0002479
name: Sertoli-Leydig cell tumor
def: "A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens." [MESH:D018310]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:2997 {source="MONDO:equivalentTo"}
xref: MEDGEN:61669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018310 {source="MONDO:equivalentTo", source="DOID:2997"}
xref: NCIT:C2880 {source="ONCOTREE:SLCT"}
xref: ONCOTREE:SLCT {source="MONDO:equivalentTo"}
xref: SCTID:34110004 {source="DOID:2997"}
xref: UMLS:C0206723 {source="MEDGEN:61669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003125 {source="DOID:2997"} ! testicular sex cord-stromal neoplasm

[Term]
id: MONDO:0002480
name: endometrioid tumor
def: "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:C7113]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113]
synonym: "endometrioid neoplasm of female reproductive system" EXACT [NCIT:C7113]
synonym: "endometrioid neoplasm of the female reproductive system" EXACT [NCIT:C7113]
synonym: "endometrioid tumor" EXACT [NCIT:C7113]
synonym: "endometrioid tumor (morphologic abnormality)" EXACT [DOID:3001]
synonym: "endometrioid tumor of female reproductive system" EXACT [NCIT:C7113]
synonym: "endometrioid tumor of the female reproductive system" EXACT [NCIT:C7113]
synonym: "endometrioid tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "endometrioid tumour of female reproductive system" EXACT OMO:0003005 []
synonym: "endometrioid tumour of the female reproductive system" EXACT OMO:0003005 []
synonym: "female reproductive endometrioid cancer" RELATED [DOID:3001]
synonym: "female reproductive endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113]
synonym: "female reproductive endometrioid tumor" EXACT [NCIT:C7113]
synonym: "female reproductive endometrioid tumour" EXACT OMO:0003005 []
xref: DOID:3001 {source="MONDO:equivalentTo"}
xref: MEDGEN:105374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7113 {source="DOID:3001", source="MONDO:equivalentTo"}
xref: SCTID:253013001 {source="DOID:3001"}
xref: UMLS:C0474809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105374"}
is_a: MONDO:0005626 {source="NCIT:C7113"} ! epithelial neoplasm
is_a: MONDO:0021148 {source="NCIT:C7113"} ! female reproductive system neoplasm
relationship: excluded_subClassOf MONDO:0001416 {source="DOID:3001", source="https://orcid.org/0000-0001-5208-3432"} ! female reproductive organ cancer

[Term]
id: MONDO:0002481
name: ovarian neuroendocrine neoplasm
def: "An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." [NCIT:C5237]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neuroendocrine neoplasm of ovary" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5237]
synonym: "neuroendocrine neoplasm of the ovary" EXACT [NCIT:C5237]
synonym: "neuroendocrine tumor of ovary" EXACT [DOID:3002, NCIT:C5237]
synonym: "neuroendocrine tumour of ovary" EXACT OMO:0003005 []
synonym: "ovarian neuroendocrine neoplasm" EXACT [NCIT:C5237]
synonym: "ovary NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "ovary neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "ovary neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "ovary neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "ovary neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:3002 {source="MONDO:equivalentTo"}
xref: MEDGEN:277459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5237 {source="DOID:3002", source="MONDO:equivalentTo"}
xref: UMLS:C1335172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277459"}
is_a: MONDO:0008170 {source="DOID:3002", source="MONDO:Entailed"} ! ovarian cancer
is_a: MONDO:0019496 {source="DOID:3002", source="MONDO:Redundant", source="NCIT:C5237"} ! neuroendocrine neoplasm
is_a: MONDO:0021068 {source="NCIT:C5237"} ! ovarian neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0002482
name: nipple neoplasm
def: "A benign or malignant neoplasm that arises in the area of the nipple." [NCIT:C5212]
synonym: "neoplasm of nipple" EXACT [MONDO:patterns/neoplasm, NCIT:C5212]
synonym: "neoplasm of the nipple" EXACT [NCIT:C5212]
synonym: "nipple neoplasm" EXACT [NCIT:C5212]
synonym: "nipple neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nipple tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5212]
synonym: "nipple tumour" EXACT OMO:0003005 []
synonym: "tumor of nipple" EXACT [DOID:3003, MONDO:patterns/neoplasm, NCIT:C5212]
synonym: "tumor of the nipple" EXACT [NCIT:C5212]
synonym: "tumour of nipple" EXACT OMO:0003005 []
synonym: "tumour of the nipple" EXACT OMO:0003005 []
xref: DOID:3003 {source="MONDO:equivalentTo"}
xref: MEDGEN:205111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5212 {source="DOID:3003", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1112166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:205111"}
is_a: MONDO:0021100 {source="NCIT:C5212"} ! breast neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002030 ! nipple

[Term]
id: MONDO:0002483
name: breast myoepithelial tumor
def: "A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma." [NCIT:C40389]
synonym: "breast myoepithelial neoplasm" EXACT [NCIT:C40389]
synonym: "breast myoepithelial tumor" EXACT [MONDO:patterns/location, NCIT:C40389]
xref: DOID:3004 {source="MONDO:equivalentTo"}
xref: MEDGEN:267411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40389 {source="DOID:3004", source="MONDO:equivalentTo"}
xref: UMLS:C1511319 {source="MONDO:equivalentTo", source="MEDGEN:267411", source="MONDO:MEDGEN"}
is_a: MONDO:0002380 {source="DOID:3004", source="MONDO:Redundant", source="NCIT:C40389"} ! myoepithelial tumor
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C40389/inferred"} ! breast neoplasm
intersection_of: MONDO:0002380 ! myoepithelial tumor
intersection_of: disease_has_location UBERON:0000310 ! breast
relationship: disease_arises_from_structure UBERON:0003244 {source="NCIT:C40389"} ! epithelium of mammary gland

[Term]
id: MONDO:0002484
name: obsolete breast ductal carcinoma
is_obsolete: true
replaced_by: MONDO:0005590

[Term]
id: MONDO:0002485
name: breast neuroendocrine neoplasm
def: "A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare." [NCIT:C5169]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast endocrine neoplasm" EXACT [NCIT:C5169]
synonym: "breast NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "breast neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5169]
synonym: "breast neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "breast neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "breast neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of breast" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5169]
synonym: "neuroendocrine neoplasm of the breast" EXACT [NCIT:C5169]
synonym: "neuroendocrine tumor of the breast" EXACT [DOID:3009, NCIT:C5169]
synonym: "neuroendocrine tumour of the breast" EXACT OMO:0003005 []
xref: DOID:3009 {source="MONDO:equivalentTo"}
xref: MEDGEN:231969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5169 {source="MONDO:equivalentTo", source="DOID:3009", source="MONDO:exact-label-match"}
xref: UMLS:C1332635 {source="MEDGEN:231969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019496 {source="DOID:3009", source="MONDO:Redundant", source="NCIT:C5169"} ! neuroendocrine neoplasm
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C5169"} ! breast neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002486
name: lobular neoplasia
def: "A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma." [NCIT:C27939]
subset: otar {source="MONDO:OTAR"}
synonym: "LIN" EXACT ABBREVIATION [NCIT:C27939]
synonym: "LN" EXACT ABBREVIATION [NCIT:C27939]
synonym: "lobular carcinoma in situ" RELATED EXCLUDE [DOID:3010]
synonym: "lobular intraepithelial neoplasia" EXACT [DOID:3010, NCIT:C27939]
synonym: "lobular neoplasia" EXACT [NCIT:C27939]
xref: DOID:3010 {source="MONDO:equivalentTo"}
xref: MEDGEN:167824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27939 {source="MONDO:equivalentTo", source="DOID:3010"}
xref: UMLS:C0861352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167824"}
is_a: MONDO:0004658 {source="DOID:3010"} ! breast carcinoma in situ
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C27939"} ! breast neoplasm

[Term]
id: MONDO:0002487
name: breast granular cell tumor
def: "A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm." [NCIT:C40400]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast granular cell tumor" EXACT [MONDO:patterns/location, NCIT:C40400]
synonym: "granular cell tumor of breast" EXACT [MONDO:design_pattern]
synonym: "granular cell tumour of breast" EXACT OMO:0003005 []
xref: DOID:3011 {source="MONDO:equivalentTo"}
xref: MEDGEN:307309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40400 {source="DOID:3011", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1511312 {source="MEDGEN:307309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="NCIT:C40400"} ! granular cell tumor
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C40400"} ! breast neoplasm
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002488
name: intraductal breast neoplasm
def: "A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ." [NCIT:C36083]
synonym: "intraductal breast neoplasm" EXACT [NCIT:C36083]
xref: DOID:3013 {source="MONDO:equivalentTo"}
xref: MEDGEN:184927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36083 {source="DOID:3013", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0948967 {source="MONDO:equivalentTo", source="MEDGEN:184927", source="MONDO:MEDGEN"}
is_a: MONDO:0021100 {source="NCIT:C36083"} ! breast neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure UBERON:0001765 ! mammary duct
relationship: disease_arises_from_structure UBERON:0003244 {source="NCIT:C36083"} ! epithelium of mammary gland

[Term]
id: MONDO:0002489
name: malignant breast phyllodes tumor
def: "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present." [NCIT:C4504]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast malignant phyllodes tumor" RELATED [DOID:3016]
synonym: "breast malignant phyllodes tumour" RELATED OMO:0003005 []
synonym: "breast phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant breast phyllodes neoplasm" EXACT [NCIT:C4504]
synonym: "malignant breast phyllodes tumor" EXACT [NCIT:C4504]
synonym: "malignant cystosarcoma phyllodes" RELATED [DOID:3016]
synonym: "malignant cystosarcoma phyllodes (morphologic abnormality)" RELATED [DOID:3016]
synonym: "malignant cystosarcoma phyllodes of breast" EXACT [NCIT:C4504]
synonym: "malignant cystosarcoma phyllodes of the breast" EXACT [NCIT:C4504]
synonym: "malignant mammary phyllodes neoplasm" EXACT [NCIT:C4504]
synonym: "malignant mammary phyllodes tumor" EXACT [DOID:3016, NCIT:C4504]
synonym: "malignant mammary phyllodes tumour" EXACT OMO:0003005 []
synonym: "malignant phyllodes breast neoplasm" EXACT [NCIT:C4504]
synonym: "malignant phyllodes neoplasm" BROAD [DOID:3016]
synonym: "malignant phyllodes neoplasm of breast" EXACT [NCIT:C4504]
synonym: "malignant phyllodes neoplasm of the breast" EXACT [NCIT:C4504]
synonym: "malignant phyllodes tumor" RELATED EXCLUDE [DOID:3016]
synonym: "malignant phyllodes tumor (morphologic abnormality)" EXACT [DOID:3016]
synonym: "malignant phyllodes tumor of breast" EXACT [NCIT:C4504]
synonym: "malignant phyllodes tumor of the breast" EXACT [NCIT:C4504]
synonym: "malignant phyllodes tumour" RELATED OMO:0003005 []
synonym: "malignant phyllodes tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "malignant phyllodes tumour of breast" EXACT OMO:0003005 []
synonym: "malignant phyllodes tumour of the breast" EXACT OMO:0003005 []
synonym: "phyllodes breast neoplasm" BROAD [DOID:3016]
synonym: "phyllodes breast tumor" BROAD [DOID:3016]
synonym: "phyllodes breast tumour" BROAD OMO:0003005 []
synonym: "phyllodes tumor, malignant" RELATED EXCLUDE [DOID:3016]
synonym: "phyllodes tumor, malignant (morphologic abnormality)" BROAD [DOID:3016]
xref: DOID:3016 {source="MONDO:equivalentTo"}
xref: EFO:0008545 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:87543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003557 {source="DOID:3016"}
xref: NCIT:C4504 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:MPT {source="MONDO:equivalentTo"}
xref: SCTID:134331008 {source="DOID:3016"}
xref: SCTID:189826001 {source="DOID:3016"}
xref: SCTID:254844000 {source="DOID:3016", source="MONDO:equivalentTo"}
xref: SCTID:712989008 {source="DOID:3016"}
xref: SCTID:87913009 {source="DOID:3016"}
xref: UMLS:C0346154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87543"}
is_a: MONDO:0005853 {source="MONDO:Entailed", source="NCIT:C4504/inferred"} ! malignant mixed neoplasm
is_a: MONDO:0007254 {source="DOID:3016", source="MONDO:Redundant", source="NCIT:C4504"} ! breast cancer
is_a: MONDO:0021047 {source="MONDO:Redundant", source="NCIT:C4504", source="ONCOTREE:MPT"} ! breast phyllodes tumor
is_a: MONDO:0037003 {source="MONDO:Redundant", source="NCIT:C4504"} ! malignant phyllodes tumor
intersection_of: MONDO:0021047 ! breast phyllodes tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0002490
name: breast sarcoma
def: "A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma." [NCIT:C4670]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast sarcoma" EXACT [MONDO:patterns/location, NCIT:C4670]
synonym: "PBS" RELATED ABBREVIATION [ONCOTREE:PBS]
synonym: "sarcoma of breast" EXACT [MONDO:patterns/sarcoma, NCIT:C4670]
synonym: "sarcoma of the breast" EXACT [NCIT:C4670]
xref: DOID:3017 {source="MONDO:equivalentTo"}
xref: MEDGEN:87613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4670 {source="MONDO:equivalentTo", source="DOID:3017", source="MONDO:exact-label-match"}
xref: ONCOTREE:PBS {source="MONDO:equivalentTo"}
xref: SCTID:278050001 {source="MONDO:equivalentTo", source="DOID:3017"}
xref: UMLS:C0349667 {source="MEDGEN:87613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DOID:3017", source="MONDO:Redundant", source="NCIT:C4670/inferred"} ! sarcoma
is_a: MONDO:0007254 {source="DOID:3017", source="MONDO:Redundant", source="NCIT:C4670"} ! breast cancer
is_a: MONDO:0018078 {source="NCIT:C4670"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002491
name: substance abuse
def: "The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:302 {source="MONDO:equivalentTo"}
xref: ICD9:305.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:152849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019966 {source="DOID:302"}
xref: NCIT:C16522 {source="DOID:302", source="MONDO:otherHierarchy"}
xref: SCTID:26416006 {source="DOID:302"}
xref: SCTID:66214007 {source="MONDO:equivalentTo"}
xref: UMLS:C0740858 {source="MEDGEN:152849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002494 {source="DOID:302"} ! substance-related disorder

[Term]
id: MONDO:0002492
name: acute kidney failure
def: "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria." [NCIT:C26808]
subset: otar {source="MONDO:OTAR"}
synonym: "acute kidney injury" EXACT [NCIT:C26808]
synonym: "acute renal failure" EXACT [NCIT:C26808]
synonym: "AKI" EXACT ABBREVIATION [NCIT:C26808]
synonym: "ARF" EXACT ABBREVIATION [NCIT:C26808]
synonym: "kidney failure, acute" EXACT [MONDO:patterns/acute]
xref: DOID:3021 {source="MONDO:equivalentTo"}
xref: ICD10CM:N17 {source="MONDO:equivalentTo"}
xref: ICD10CM:N17-N19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:388570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058186 {source="MONDO:equivalentTo"}
xref: NCIT:C26808 {source="MONDO:equivalentTo"}
xref: UMLS:C2609414 {source="MEDGEN:388570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001106 {source="DOID:3021", source="MESH:D058186", source="MONDO:Redundant", source="NCIT:C26808"} ! kidney failure
intersection_of: MONDO:0001106 ! kidney failure
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0002493
name: prostatic acinar adenocarcinoma
def: "An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acinar adenocarcinoma of prostate" EXACT [NCIT:C5596]
synonym: "acinar adenocarcinoma of the prostate" EXACT [NCIT:C5596]
synonym: "acinar prostate adenocarcinoma" EXACT [NCIT:C5596]
synonym: "prostate acinar adenocarcinoma" EXACT [NCIT:C5596]
synonym: "prostatic acinar adenocarcinoma" EXACT [DOID:3024, NCIT:C5596]
xref: DOID:3024 {source="MONDO:equivalentTo"}
xref: MEDGEN:231350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5596 {source="DOID:3024", source="MONDO:equivalentTo"}
xref: UMLS:C1332139 {source="MEDGEN:231350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004965 {source="MONDO:Redundant", source="NCIT:C5596"} ! acinar cell carcinoma
is_a: MONDO:0005082 {source="DOID:3024", source="MONDO:Redundant", source="NCIT:C5596"} ! prostate adenocarcinoma
intersection_of: MONDO:0004965 {source="NCIT:C5596"} ! acinar cell carcinoma
intersection_of: MONDO:0005082 {source="NCIT:C5596"} ! prostate adenocarcinoma

[Term]
id: MONDO:0002494
name: substance-related disorder
def: "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)." [NCIT:C92203]
subset: otar {source="MONDO:OTAR"}
synonym: "substance induced mood disorders" EXACT [PMID:32310347]
synonym: "substance-related disorder" EXACT [NCIT:C92203]
xref: DOID:303 {source="MONDO:equivalentTo"}
xref: ICD10CM:F10-F19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:66746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019966 {source="DOID:303", source="MONDO:equivalentTo"}
xref: NCIT:C92203 {source="DOID:303", source="MONDO:equivalentTo"}
xref: UMLS:C0236969 {source="MEDGEN:66746", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="DOID:303", source="MESH:D019966", source="NCIT:C92203"} ! psychiatric disorder

[Term]
id: MONDO:0002495
name: colon signet ring cell adenocarcinoma
def: "An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells." [NCIT:C7967]
synonym: "colon signet ring adenocarcinoma" RELATED [DOID:3033]
synonym: "colon signet Ring cell adenocarcinoma" EXACT [NCIT:C7967]
synonym: "colonic signet Ring adenocarcinoma" EXACT [DOID:3033, NCIT:C7967]
synonym: "colonic signet Ring cell adenocarcinoma" EXACT [NCIT:C7967]
synonym: "signet Ring cell adenocarcinoma of colon" EXACT [NCIT:C7967]
synonym: "signet Ring cell adenocarcinoma of the colon" EXACT [NCIT:C7967]
synonym: "signet Ring cell colon adenocarcinoma" EXACT [NCIT:C7967]
xref: DOID:3033 {source="MONDO:equivalentTo"}
xref: MEDGEN:313039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7967 {source="MONDO:equivalentTo"}
xref: UMLS:C1707436 {source="MONDO:equivalentTo", source="MEDGEN:313039", source="MONDO:MEDGEN"}
is_a: MONDO:0002271 {source="DOID:3033", source="MONDO:Redundant", source="NCIT:C7967"} ! colon adenocarcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0002496
name: submucosal invasive colon adenocarcinoma
def: "An adenocarcinoma of the colon that has invaded into the submucosa." [NCIT:C38760]
synonym: "submucosal invasive colon adenocarcinoma" EXACT [NCIT:C38760]
xref: DOID:3038 {source="MONDO:equivalentTo"}
xref: MEDGEN:271523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38760 {source="DOID:3038", source="MONDO:equivalentTo"}
xref: UMLS:C1515024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271523"}
is_a: MONDO:0002271 {source="DOID:3038", source="NCIT:C38760"} ! colon adenocarcinoma
is_a: MONDO:0040677 {source="NCIT:C38760"} ! invasive carcinoma

[Term]
id: MONDO:0002497
name: obsolete food allergy
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5914" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0700226

[Term]
id: MONDO:0002498
name: obsolete glioblastoma multiforme
synonym: "obsolete glioblastoma multiforme (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete glioblastoma multiforme (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0018177

[Term]
id: MONDO:0002499
name: obsolete astrocytoma
is_obsolete: true
replaced_by: MONDO:0019781

[Term]
id: MONDO:0002500
name: obsolete gliosarcoma
is_obsolete: true
replaced_by: MONDO:0016681

[Term]
id: MONDO:0002501
name: brain glioblastoma
def: "A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor." [NCIT:C4642]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain glioblastoma" EXACT [DOID:3073, NCIT:C4642]
synonym: "brain glioblastoma (disease)" EXACT [MONDO:patterns/location]
synonym: "brain glioblastoma multiforme" EXACT [NCIT:C4642]
synonym: "brain glioblastoma multiforme (disease)" EXACT [MONDO:patterns/location]
synonym: "glioblastoma (disease) of brain" EXACT []
synonym: "glioblastoma multiforme of brain" EXACT [DOID:3073, NCIT:C4642]
synonym: "glioblastoma multiforme of the brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic neoplasm of brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic neoplasm of the brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic tumor of brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic tumor of the brain" EXACT [NCIT:C4642]
synonym: "grade IV astrocytic tumour of brain" EXACT OMO:0003005 []
synonym: "grade IV astrocytic tumour of the brain" EXACT OMO:0003005 []
synonym: "grade IV brain astrocytic neoplasm" EXACT [NCIT:C4642]
synonym: "grade IV brain astrocytic tumor" EXACT [NCIT:C4642]
synonym: "grade IV brain astrocytic tumour" EXACT OMO:0003005 []
xref: DOID:3073 {source="MONDO:equivalentTo"}
xref: EFO:0006545 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:138100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4642 {source="MONDO:equivalentTo", source="DOID:3073"}
xref: SCTID:276828006 {source="MONDO:equivalentTo", source="DOID:3073"}
xref: UMLS:C0349543 {source="MEDGEN:138100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005499 {source="DOID:3073", source="EFO:0006545/inferred", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0018177 {source="DOID:3073", source="MONDO:Redundant", source="NCIT:C4642"} ! glioblastoma
intersection_of: MONDO:0018177 ! glioblastoma
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0002502
name: obsolete giant cell glioblastoma
is_obsolete: true
replaced_by: MONDO:0016682

[Term]
id: MONDO:0002503
name: adult astrocytic tumor
def: "An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma." [NCIT:C7049]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult astrocytic neoplasm" EXACT [NCIT:C7049]
synonym: "adult astrocytic tumor" EXACT [NCIT:C7049]
synonym: "adult astrocytoma" EXACT [DOID:3076, NCIT:C7049]
synonym: "astrocytic tumor" BROAD [NCIT:C7049]
synonym: "astrocytic tumour" BROAD OMO:0003005 []
xref: DOID:3076 {source="MONDO:equivalentTo"}
xref: MEDGEN:272290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7049 {source="MONDO:equivalentTo", source="DOID:3076"}
xref: UMLS:C1332183 {source="MEDGEN:272290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021636 {source="DOID:3076", source="NCIT:C7049"} ! astrocytic tumor
intersection_of: MONDO:0021636 ! astrocytic tumor
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0002504
name: obsolete grade III astrocytoma
is_obsolete: true
replaced_by: MONDO:0016684

[Term]
id: MONDO:0002505
name: childhood astrocytic tumor
def: "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location." [NCIT:C9022]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "astrocytic tumor" BROAD [NCIT:C9022]
synonym: "astrocytic tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "astrocytic tumors, childhood" EXACT [NCIT:C9022]
synonym: "astrocytic tumour" BROAD OMO:0003005 []
synonym: "astrocytic tumour of childhood" EXACT OMO:0003005 []
synonym: "childhood astrocytic neoplasm" EXACT [NCIT:C9022]
synonym: "childhood astrocytic tumor" EXACT [NCIT:C9022]
synonym: "juvenile astrocytoma" EXACT [DOID:3079]
synonym: "juvenile astrocytoma (morphologic abnormality)" EXACT [DOID:3079]
synonym: "paediatric astrocytic neoplasm" EXACT OMO:0003005 []
synonym: "paediatric astrocytic tumour" EXACT OMO:0003005 []
synonym: "paediatric astrocytoma" EXACT OMO:0003005 []
synonym: "pediatric astrocytic neoplasm" EXACT [NCIT:C9022]
synonym: "pediatric astrocytic tumor" EXACT [MONDO:patterns/childhood, NCIT:C9022]
synonym: "pediatric astrocytoma" EXACT [DOID:3079, NCIT:C9022]
xref: DOID:3079 {source="MONDO:equivalentTo"}
xref: MEDGEN:272112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9022 {source="DOID:3079", source="MONDO:equivalentTo"}
xref: SCTID:128854008 {source="DOID:3079"}
xref: SCTID:253065004 {source="DOID:3079"}
xref: SCTID:67859002 {source="DOID:3079"}
xref: UMLS:C1321865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272112"}
is_a: MONDO:0021636 {source="DOID:3079", source="MONDO:Redundant", source="NCIT:C9022"} ! astrocytic tumor
intersection_of: MONDO:0021636 ! astrocytic tumor
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0019781 {source="DOID:3079", source="https://orcid.org/0000-0001-5208-3432"} ! astrocytoma (excluding glioblastoma)

[Term]
id: MONDO:0002506
name: obsolete early myoclonic encephalopathy
is_obsolete: true
replaced_by: MONDO:0016022

[Term]
id: MONDO:0002507
name: gingival overgrowth
def: "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)" [MESH:D019214]
subset: otar {source="MONDO:OTAR"}
synonym: "gingival enlargement" EXACT [DOID:3086]
synonym: "gingival enlargement NOS" RELATED EXCLUDE [DOID:3086]
xref: DOID:3086 {source="MONDO:equivalentTo"}
xref: ICD10CM:K06.1 {source="DOID:3086"}
xref: ICD9:523.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019214 {source="MONDO:equivalentTo", source="DOID:3086"}
xref: SCTID:196375006 {source="DOID:3086"}
xref: SCTID:271083000 {source="DOID:3086"}
xref: SCTID:54711002 {source="MONDO:equivalentTo", source="DOID:3086"}
xref: UMLS:C0376480 {source="MEDGEN:87712", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002021 {source="DOID:3086", source="MESH:D019214"} ! gingival disorder

[Term]
id: MONDO:0002508
name: gingivitis
def: "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth." [NCIT:C34636]
subset: otar {source="MONDO:OTAR"}
synonym: "acute gingivitis" NARROW [DOID:3087]
synonym: "chronic gingivitis" NARROW [DOID:3087, ICD9CM:523.1]
synonym: "gingiva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "gingivitis" EXACT [NCIT:C34636]
synonym: "inflammation of gingiva" EXACT []
xref: DOID:3087 {source="MONDO:equivalentTo"}
xref: ICD10CM:K05.0 {source="DOID:3087"}
xref: ICD10CM:K05.00 {source="DOID:3087"}
xref: ICD10CM:K05.1 {source="DOID:3087"}
xref: ICD10CM:K05.10 {source="DOID:3087"}
xref: ICD9:523.0 {source="DOID:3087"}
xref: ICD9:523.1 {source="DOID:3087"}
xref: ICD9:523.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005891 {source="MONDO:equivalentTo", source="DOID:3087"}
xref: NCIT:C34474 {source="DOID:3087"}
xref: NCIT:C34636 {source="MONDO:equivalentTo", source="DOID:3087"}
xref: SCTID:155643004 {source="DOID:3087"}
xref: SCTID:155644005 {source="DOID:3087"}
xref: SCTID:196355002 {source="DOID:3087"}
xref: SCTID:196358000 {source="DOID:3087"}
xref: SCTID:234990002 {source="DOID:3087"}
xref: SCTID:266490003 {source="DOID:3087"}
xref: SCTID:31642005 {source="DOID:3087"}
xref: SCTID:66383009 {source="MONDO:equivalentTo", source="DOID:3087"}
xref: SCTID:72621003 {source="DOID:3087"}
xref: UMLS:C0017574 {source="MEDGEN:4895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002021 {source="DOID:3087", source="MESH:D005891", source="MONDO:Redundant"} ! gingival disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001828 ! gingiva

[Term]
id: MONDO:0002509
name: non-specific granulomatous orchitis
def: "Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena." [NCIT:P378]
synonym: "granulomatous orchitis" BROAD [DOID:3089, NCIT:C27162]
xref: DOID:3089 {source="MONDO:equivalentTo"}
xref: MEDGEN:98504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27162 {source="DOID:3089", source="MONDO:equivalentTo"}
xref: SCTID:50390006 {source="DOID:3089", source="MONDO:equivalentTo"}
xref: UMLS:C0436545 {source="MEDGEN:98504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006882 {source="NCIT:C27162"} ! orchitis
relationship: disease_has_inflammation_site UBERON:0000473 ! testis

[Term]
id: MONDO:0002510
name: obsolete germ cell and embryonal cancer
def: "OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus." [MESH:D009373]
comment: Embryonal malignancies are composed of primitive (immature) tissues and do not originate from the germinal layer. Germ cell malignancies originate from the germinal layer. This is a poor term, should be removed.
synonym: "germ cell and embryonal neoplasm" RELATED [DOID:3095]
xref: DOID:3095 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D009373 {source="MONDO:obsoleteEquivalent", source="DOID:3095"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/376" xsd:anyURI
is_obsolete: true
consider: MONDO:0005040

[Term]
id: MONDO:0002511
name: stenosis of lacrimal sac
xref: DOID:3096 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.57 {source="DOID:3096"}
xref: ICD10CM:H04.579 {source="DOID:3096"}
xref: ICD9:375.54 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3096"}
xref: MEDGEN:509871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:11772001 {source="MONDO:equivalentTo", source="DOID:3096"}
xref: UMLS:C0155246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509871"}
is_a: MONDO:0001854 {source="DOID:3096"} ! lacrimal apparatus disorder

[Term]
id: MONDO:0002512
name: papillary adenocarcinoma
def: "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma." [NCIT:C2853]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma, papillary, malignant" EXACT [NCIT:C2853]
synonym: "infiltrating and papillary adenocarcinoma" NARROW [DOID:3112]
synonym: "infiltrating papillary adenocarcinoma" NARROW [DOID:3112]
synonym: "papillary adenocarcinoma" EXACT [DOID:3112, NCIT:C2853]
synonym: "papillary adenocarcinoma (morphologic abnormality)" EXACT [DOID:3112]
synonym: "papillary adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3112]
xref: DOID:3112 {source="MONDO:equivalentTo"}
xref: ICDO:8260/3 {source="NCIT:C2853"}
xref: MEDGEN:123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000231 {source="DOID:3112", source="MONDO:equivalentTo"}
xref: NCIT:C2853 {source="DOID:3112", source="MONDO:equivalentTo"}
xref: NCIT:C7438 {source="DOID:3112"}
xref: SCTID:189621008 {source="DOID:3112"}
xref: SCTID:4797003 {source="DOID:3112"}
xref: SCTID:64524002 {source="DOID:3112"}
xref: UMLS:C0001420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:123"}
is_a: MONDO:0004970 {source="DOID:3112", source="MESH:D000231", source="MONDO:Redundant", source="NCIT:C2853"} ! adenocarcinoma
is_a: MONDO:0006509 {source="MONDO:Redundant", source="NCIT:C2853"} ! papillary carcinoma
intersection_of: MONDO:0004970 {source="NCIT:C2853"} ! adenocarcinoma
intersection_of: MONDO:0006509 {source="NCIT:C2853"} ! papillary carcinoma

[Term]
id: MONDO:0002513
name: kidney benign neoplasm
def: "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." [NCIT:C4778]
subset: otar {source="MONDO:OTAR"}
synonym: "benign kidney neoplasm" EXACT [NCIT:C4778]
synonym: "benign kidney tumor" EXACT [NCIT:C4778]
synonym: "benign kidney tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of kidney" EXACT [NCIT:C4778]
synonym: "benign neoplasm of the kidney" EXACT [NCIT:C4778]
synonym: "benign renal neoplasm" EXACT [NCIT:C4778]
synonym: "benign renal tumor" EXACT [NCIT:C4778]
synonym: "benign renal tumour" EXACT OMO:0003005 []
synonym: "benign tumor of kidney" EXACT [NCIT:C4778]
synonym: "benign tumor of the kidney" EXACT [NCIT:C4778]
synonym: "benign tumour of kidney" EXACT OMO:0003005 []
synonym: "benign tumour of the kidney" EXACT OMO:0003005 []
synonym: "kidney benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "renal and ureteral tumor" EXACT [DOID:3116, NCIT:C7514]
synonym: "renal and ureteral tumour" EXACT OMO:0003005 []
synonym: "renal neoplasm, benign" EXACT [NCIT:C4778]
synonym: "renal tumor, benign" EXACT [NCIT:C4778]
xref: DOID:3116 {source="MONDO:equivalentTo"}
xref: ICD9:223.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:96926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4778 {source="MONDO:equivalentTo"}
xref: NCIT:C7514 {source="DOID:3116"}
xref: SCTID:92165001 {source="MONDO:equivalentTo"}
xref: UMLS:C0496892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96926"}
is_a: MONDO:0004180 {source="DOID:3116", source="MONDO:Redundant", source="NCIT:C4778"} ! benign urinary system neoplasm
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C4778"} ! kidney neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002113 ! kidney
relationship: disease_has_location UBERON:0002113 {source="NCIT:C4778"} ! kidney

[Term]
id: MONDO:0002514
name: hepatobiliary neoplasm
def: "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma." [NCIT:C8614]
subset: otar {source="MONDO:OTAR"}
synonym: "hepatic and biliary neoplasms" EXACT [NCIT:C8614]
synonym: "hepatic and biliary tumors" EXACT [NCIT:C8614]
synonym: "hepatic and biliary tumours" EXACT OMO:0003005 []
synonym: "hepatic, biliary, and gallbladder neoplasms" EXACT [NCIT:C8614]
synonym: "hepato-biliary neoplasm" EXACT [NCIT:C8614]
synonym: "hepato-biliary tumor" EXACT [NCIT:C8614]
synonym: "hepato-biliary tumour" EXACT OMO:0003005 []
synonym: "hepatobiliary benign neoplasm" NARROW [DOID:3117]
synonym: "hepatobiliary neoplasm" EXACT [NCIT:C8614]
synonym: "hepatobiliary system neoplasm" EXACT []
synonym: "hepatobiliary system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hepatobiliary system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "hepatobiliary system tumour" EXACT OMO:0003005 []
synonym: "hepatobiliary tumor" EXACT [NCIT:C8614]
synonym: "hepatobiliary tumors" EXACT [NCIT:C8614]
synonym: "hepatobiliary tumour" EXACT OMO:0003005 []
synonym: "hepatobiliary tumours" EXACT OMO:0003005 []
synonym: "liver and biliary neoplasm" EXACT [NCIT:C8614]
synonym: "liver and biliary system neoplasm" EXACT [NCIT:C8614]
synonym: "neoplasm of hepatobiliary system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of hepatobiliary system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of hepatobiliary system" EXACT OMO:0003005 []
xref: DOID:0080355 {source="MONDO:equivalentTo"}
xref: DOID:3117 {source="MONDO:mondoIsBroaderThanSource"}
xref: EFO:0008550 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:208891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8614 {source="DOID:3117", source="MONDO:equivalentTo"}
xref: UMLS:C0854196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208891"}
is_a: MONDO:0005070 {source="DOID:3117/inferred", source="EFO:0008550/inferred", source="MONDO:Redundant", source="NCIT:C8614/inferred"} ! neoplasm
is_a: MONDO:0021223 {source="EFO:0008550", source="MONDO:Redundant", source="NCIT:C8614"} ! digestive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002423 ! hepatobiliary system
relationship: disease_has_location UBERON:0002423 {source="NCIT:C8614"} ! hepatobiliary system

[Term]
id: MONDO:0002515
name: hepatobiliary disorder
def: "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of hepatobiliary system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of hepatobiliary system" EXACT []
synonym: "disorder of hepatobiliary system" EXACT [MONDO:patterns/location_top]
synonym: "hepatobiliary disorder" EXACT [NCIT:C3959]
synonym: "hepatobiliary system disease" EXACT [MONDO:patterns/location]
synonym: "hepatobiliary system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "liver and biliary disease" EXACT [NCIT:C3959]
synonym: "liver and biliary disorder" EXACT [NCIT:C3959]
synonym: "liver and biliary system disorder" EXACT [NCIT:C3959]
synonym: "liver and biliary tract disease" EXACT [DOID:3118]
xref: DOID:3118 {source="MONDO:equivalentTo"}
xref: EFO:0010284 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:82758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3959 {source="MONDO:equivalentTo", source="DOID:3118"}
xref: UMLS:C0267792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82758"}
is_a: MONDO:0004335 {source="DOID:3118", source="MONDO:Redundant", source="NCIT:C3959"} ! digestive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002423 ! hepatobiliary system

[Term]
id: MONDO:0002516
name: digestive system cancer
def: "A primary or metastatic malignant neoplasm involving any part of the digestive system." [NCIT:C4890]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of digestive system" EXACT [MONDO:patterns/cancer]
synonym: "digestive system cancer" EXACT [DOID:3119, MONDO:patterns/location]
synonym: "gastrointestinal cancer, NOS" RELATED EXCLUDE [NCIT:C4890]
synonym: "gastrointestinal system cancer" EXACT [NCIT:C4890]
synonym: "gastrointestinal tract cancer" EXACT [DOID:3119, NCIT:C4890]
synonym: "GI tumor" BROAD [DOID:3119, NCIT:C3052]
synonym: "GI tumour" BROAD OMO:0003005 []
synonym: "malignant digestive system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4890]
synonym: "malignant gastrointestinal neoplasm" EXACT [NCIT:C4890]
synonym: "malignant gastrointestinal system neoplasm" EXACT [NCIT:C4890]
synonym: "malignant neoplasm of digestive system" EXACT [MONDO:patterns/cancer]
xref: DOID:3119 {source="MONDO:equivalentTo"}
xref: ICD10CM:C15-C26 {source="MONDO:equivalentTo"}
xref: ICD10CM:C26.9 {source="DOID:3119"}
xref: ICD9:239.0 {source="DOID:3119"}
xref: MEDGEN:148231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004067 {source="DOID:3119"}
xref: MESH:D005770 {source="DOID:3119"}
xref: NCIT:C3052 {source="DOID:3119"}
xref: NCIT:C4890 {source="MONDO:equivalentTo", source="DOID:3119"}
xref: SCTID:126768004 {source="DOID:3119"}
xref: SCTID:128348002 {source="DOID:3119"}
xref: SCTID:128415001 {source="DOID:3119"}
xref: SCTID:189527000 {source="DOID:3119"}
xref: SCTID:276806006 {source="DOID:3119"}
xref: SCTID:367543008 {source="DOID:3119"}
xref: SCTID:428905002 {source="DOID:3119"}
xref: SCTID:93811007 {source="DOID:3119"}
xref: UMLS:C0751075 {source="MEDGEN:148231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="DOID:3119", source="NCIT:C4890/inferred"} ! digestive system disorder
is_a: MONDO:0004992 {source="DOID:3119", source="DOID:3119/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C4890"} ! digestive system neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001007 ! digestive system

[Term]
id: MONDO:0002517
name: tenosynovitis of foot and ankle
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:312 {source="MONDO:equivalentTo"}
xref: ICD9:727.06 {source="DOID:312"}
xref: MEDGEN:1843483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0158331 {source="MEDGEN:1843483", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004855 {source="DOID:312"} ! tenosynovitis

[Term]
id: MONDO:0002518
name: gallbladder papillary neoplasm
def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present." [NCIT:C7130]
synonym: "gall bladder papillary epithelial neoplasm" EXACT [MONDO:patterns/location]
synonym: "gallbladder papillary neoplasm" EXACT [NCIT:C7130]
synonym: "gallbladder papillomatosis" EXACT [NCIT:C7130]
synonym: "intracystic papillary neoplasm" EXACT [NCIT:C7130]
xref: DOID:3120 {source="MONDO:equivalentTo"}
xref: MEDGEN:234293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7130 {source="MONDO:equivalentTo", source="DOID:3120"}
xref: UMLS:C1333754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234293"}
is_a: MONDO:0005281 {source="DOID:3120", source="MONDO:Redundant", source="NCIT:C7130/inferred"} ! gallbladder disorder
is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C7130"} ! papillary epithelial neoplasm
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C7130"} ! gallbladder neoplasm
intersection_of: MONDO:0021096 ! papillary epithelial neoplasm
intersection_of: disease_has_location UBERON:0002110 ! gallbladder
relationship: disease_has_location UBERON:0002110 {source="NCIT:C7130"} ! gallbladder
relationship: excluded_subClassOf MONDO:0005304 {source="DOID:3120", source="https://orcid.org/0000-0001-5208-3432"} ! biliary tract neoplasm

[Term]
id: MONDO:0002519
name: anus disorder
def: "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma." [NCIT:C26695]
subset: otar {source="MONDO:OTAR"}
synonym: "anal disease" EXACT [DOID:3128]
synonym: "anal disorder" EXACT [NCIT:C26695]
synonym: "anal fissure" RELATED [DOID:3128]
synonym: "anal fissure and fistula" RELATED [DOID:3128]
synonym: "anal ulcer" RELATED [DOID:3128]
synonym: "anus disease" EXACT [MONDO:patterns/location]
synonym: "anus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of anus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of anus" EXACT []
synonym: "disorder of anal region" EXACT []
synonym: "disorder of anus" EXACT [MONDO:patterns/location_top]
synonym: "fissure in ano" RELATED [DOID:3128]
synonym: "nontraumatic tear of anus" RELATED [DOID:3128]
synonym: "solitary anal ulcer" RELATED [DOID:3128]
synonym: "Ulcer of anus" RELATED [DOID:3128]
xref: DOID:3128 {source="MONDO:equivalentTo"}
xref: EFO:0009660 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001004 {source="DOID:3128", source="MONDO:equivalentTo"}
xref: NCIT:C26695 {source="DOID:3128", source="MONDO:equivalentTo"}
xref: SCTID:32110003 {source="DOID:3128", source="MONDO:equivalentTo"}
xref: UMLS:C0003462 {source="MEDGEN:359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001593 {source="DOID:3128", source="MESH:D001004"} ! rectal disorder
is_a: MONDO:0004335 {source="DOID:3128/inferred", source="MESH:D001004/inferred", source="MONDO:Redundant", source="NCIT:C26695"} ! digestive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0002520
name: hepatic porphyria
def: "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." [MESH:D017094]
subset: disease_grouping
subset: gard_rare {source="GARD:19255", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:659694"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute hepatic porphyria" NARROW [NCIT:C133887]
synonym: "acute porphyria" RELATED [DOID:3133, GTR:AN0932921]
synonym: "ALAD deficiency" EXACT [NCIT:C133887]
synonym: "Delta-aminolevulinate dehydratase deficiency" EXACT [NCIT:C133887]
synonym: "hepatic porphyria" EXACT [MESH:D017094, MONDO:0019798]
synonym: "hepatic Porphyrias" RELATED [MESH:D017094]
synonym: "liver porphyria" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "porphobilinogen synthase deficiency" EXACT [NCIT:C133887]
synonym: "porphyria of liver" EXACT [MONDO:design_pattern]
synonym: "porphyria, hepatic" RELATED [MESH:D017094]
xref: DOID:3133 {source="MONDO:equivalentTo"}
xref: GARD:19255 {source="MONDO:GARD"}
xref: GTR:AN0932921
xref: ICD10CM:E80.2 {source="Orphanet:95157/inclusion", source="Orphanet:95157", source="Orphanet:95157/ntbt"}
xref: MEDGEN:58119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017094 {source="DOID:3133", source="MONDO:equivalentTo"}
xref: Orphanet:100924 {source="DOID:3133"}
xref: Orphanet:659694 {source="MONDO:equivalentTo"}
xref: Orphanet:95157 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:55056006 {source="DOID:3133", source="MONDO:equivalentTo"}
xref: UMLS:C0162533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:58119"}
is_a: MONDO:0005154 {source="MESH:D017094", source="MONDO:Redundant"} ! liver disorder
is_a: MONDO:0037939 {source="MONDO:Redundant"} ! porphyria
intersection_of: MONDO:0037939 ! porphyria
intersection_of: disease_has_location UBERON:0002107 ! liver
relationship: excluded_subClassOf MONDO:0016133 {source="Orphanet:95157", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare hereditary metabolic disease with peripheral neuropathy
relationship: excluded_subClassOf MONDO:0019142 {source="DOID:3133", source="MESH:D017094", source="Orphanet:95157", source="https://orcid.org/0000-0001-5208-3432"} ! inherited porphyria
relationship: excluded_subClassOf MONDO:0024255 {source="MESH:D017094", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic skin disease

[Term]
id: MONDO:0002521
name: obsolete multiple symmetrical lipomatosis
is_obsolete: true
replaced_by: MONDO:0007908

[Term]
id: MONDO:0002522
name: tenosynovial giant cell tumor
def: "A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." [NCIT:C3402]
subset: otar {source="MONDO:OTAR"}
synonym: "fibrous histiocytoma of tendon sheath" EXACT [NCIT:C3402]
synonym: "giant cell neoplasm of tendon sheath" EXACT [NCIT:C3402]
synonym: "giant cell neoplasm of Tenosynovium" EXACT [NCIT:C3402]
synonym: "giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C3402]
synonym: "giant cell tumor of tendon sheath" EXACT [DOID:314, ICD9CM:727.02, NCIT:C3402]
synonym: "giant cell tumor of Tenosynovium" EXACT [DOID:314, NCIT:C3402]
synonym: "giant cell tumor of the Tenosynovium" EXACT [NCIT:C3402]
synonym: "giant cell tumour of tendon sheath" EXACT OMO:0003005 []
synonym: "giant cell tumour of Tenosynovium" EXACT OMO:0003005 []
synonym: "giant cell tumour of the Tenosynovium" EXACT OMO:0003005 []
synonym: "tendon sheath giant cell neoplasm" EXACT [NCIT:C3402]
synonym: "tendon sheath giant cell tumor" EXACT [MONDO:patterns/location, NCIT:C3402]
synonym: "tendon sheath giant cell tumour" EXACT OMO:0003005 []
synonym: "tenosynovial giant cell neoplasm" EXACT [NCIT:C3402]
synonym: "tenosynovial giant cell tumor" EXACT [MONDO:0006443, NCIT:C3402]
xref: DOID:314 {source="MONDO:equivalentTo"}
xref: EFO:1000562 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:727.02 {source="DOID:314"}
xref: ICD9:727.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9252/0 {source="NCIT:C3402"}
xref: MEDGEN:232927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3402 {source="DOID:314", source="EFO:1000562", source="MONDO:equivalentTo"}
xref: SCTID:128777004 {source="DOID:314"}
xref: SCTID:310605004 {source="DOID:314", source="MONDO:equivalentTo"}
xref: SCTID:71508003 {source="DOID:314"}
xref: SCTID:95412009 {source="DOID:314", source="MONDO:relatedTo"}
xref: SCTID:95413004 {source="DOID:314"}
xref: UMLS:C1318543 {source="MEDGEN:232927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002171 {source="DOID:314", source="MONDO:Redundant", source="NCIT:C3402"} ! giant cell tumor
is_a: MONDO:0002528 {source="NCIT:C3402"} ! synovium neoplasm
intersection_of: MONDO:0002171 ! giant cell tumor
intersection_of: disease_has_location UBERON:0000304 ! tendon sheath

[Term]
id: MONDO:0002523
name: cutaneous mucinosis
def: "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses)." [ISBN-13:978-0-7020-3485-5]
comment: Editor note: consider splitting by location
subset: otar {source="MONDO:OTAR"}
synonym: "mucinoses" RELATED [DOID:3141]
synonym: "mucinosis" EXACT [DOID:3141, MESH:D017520]
synonym: "mucinosis affecting the skin" EXACT []
xref: DOID:3141 {source="MONDO:equivalentTo"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017520 {source="MONDO:equivalentTo", source="DOID:3141"}
xref: SCTID:11528001 {source="DOID:3141"}
xref: SCTID:402721001 {source="MONDO:equivalentTo"}
xref: UMLS:C0162855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56520"}
is_a: MONDO:0000001 {source="DOID:3141/inferred"} ! disease
relationship: disease_has_location UBERON:0000014 ! zone of skin
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:3141", source="MESH:D017520", source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder

[Term]
id: MONDO:0002524
name: obsolete hyperlipoproteinemia type III
is_obsolete: true
replaced_by: MONDO:0018473

[Term]
id: MONDO:0002525
name: inherited lipid metabolism disorder
def: "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." [NCIT:C97092]
subset: disease_grouping
subset: gard_rare {source="GARD:21314", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309005"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of lipid metabolism" BROAD [MONDO:0017707]
synonym: "dyslipidaemia" BROAD OMO:0003005 []
synonym: "dyslipidemia" BROAD [DOID:3146]
synonym: "fatty acid metabolism disorder" RELATED [DOID:3146]
synonym: "lipid metabolism disorder" BROAD [DOID:3146]
xref: DOID:3146 {source="MONDO:equivalentTo"}
xref: GARD:21314 {source="MONDO:GARD"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:272.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10061227 {source="Orphanet:309005/e", source="Orphanet:309005"}
xref: MEDGEN:57587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008052 {source="DOID:3146"}
xref: NCIT:C97092 {source="MONDO:equivalentTo"}
xref: Orphanet:309005 {source="MONDO:equivalentTo"}
xref: SCTID:267431006 {source="MONDO:equivalentTo"}
xref: UMLS:C0154251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57587"}
is_a: MONDO:0019052 {source="DOID:3146", source="MONDO:Redundant", source="NCIT:C97092", source="Orphanet:309005"} ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_disrupts GO:0006629 ! lipid metabolic process

[Term]
id: MONDO:0002526
name: dermal unilateral segmental cavernous angioma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "unilateral segmental cavernous hemangioma" EXACT [DOID:3148]
synonym: "unilateral segmental cavernous hemangioma of the skin" EXACT [DOID:3148, NCIT:C4750]
xref: DOID:3148 {source="MONDO:equivalentTo"}
xref: MEDGEN:634347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:254783008 {source="DOID:3148"}
xref: UMLS:C0474966 {source="MEDGEN:634347", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003155 {source="DOID:3148"} ! cavernous hemangioma

[Term]
id: MONDO:0002527
name: keratoacanthoma
def: "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin." [NCIT:C3146]
comment: Clinically and histologically, it may be confused with a de novo highly malignant squamous cell carcinoma (SCC). However, KA may be viewed as an abortive cancer that only rarely progresses into an aggressive SCC - PMID:8277007.
subset: otar {source="MONDO:OTAR"}
xref: DOID:3149 {source="MONDO:equivalentTo"}
xref: ICDO:8071/1 {source="NCIT:C3146"}
xref: MEDGEN:5954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007636 {source="MONDO:equivalentTo", source="DOID:3149"}
xref: NCIT:C3146 {source="MONDO:equivalentTo", source="DOID:3149", source="MONDO:exact-label-match"}
xref: SCTID:156395005 {source="DOID:3149"}
xref: SCTID:201061007 {source="DOID:3149"}
xref: SCTID:201064004 {source="DOID:3149"}
xref: SCTID:254662007 {source="MONDO:equivalentTo", source="DOID:3149"}
xref: SCTID:267858008 {source="DOID:3149"}
xref: SCTID:58220003 {source="DOID:3149"}
xref: UMLS:C0022572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5954"}
is_a: MONDO:0021634 {source="NCIT:C3146"} ! epithelial skin neoplasm
relationship: disease_arises_from_structure UBERON:0002073 {source="PMID:8277007"} ! hair follicle
relationship: disease_shares_features_of MONDO:0005096 {source="PMID:8277007"} ! squamous cell carcinoma
relationship: excluded_subClassOf MONDO:0002529 {source="DOID:3149", source="PMID:8277007", source="https://orcid.org/0000-0001-5208-3432"} ! skin squamous cell carcinoma

[Term]
id: MONDO:0002528
name: synovium neoplasm
def: "A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of synovial membrane of synovial joint" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of synovium" EXACT [NCIT:C8964]
synonym: "neoplasm of the synovium" EXACT [NCIT:C8964]
synonym: "synovial membrane of synovial joint neoplasm" EXACT []
synonym: "synovial membrane of synovial joint neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "synovial membrane of synovial joint tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "synovial membrane of synovial joint tumour" EXACT OMO:0003005 []
synonym: "synovial neoplasm" EXACT [NCIT:C8964]
synonym: "synovial neoplasm (morphologic abnormality)" EXACT [DOID:315]
synonym: "synovial neoplasm NOS (morphologic abnormality)" EXACT [DOID:315]
synonym: "synovial tumor" EXACT [NCIT:C8964]
synonym: "synovial tumour" EXACT OMO:0003005 []
synonym: "tumor of synovial membrane of synovial joint" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of synovium" EXACT [DOID:315, NCIT:C8964]
synonym: "tumor of the synovium" EXACT [NCIT:C8964]
synonym: "tumour of synovial membrane of synovial joint" EXACT OMO:0003005 []
synonym: "tumour of synovium" EXACT OMO:0003005 []
synonym: "tumour of the synovium" EXACT OMO:0003005 []
xref: DOID:315 {source="MONDO:equivalentTo"}
xref: MEDGEN:99197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8964 {source="DOID:315", source="MONDO:equivalentTo"}
xref: SCTID:189829008 {source="DOID:315"}
xref: SCTID:189831004 {source="DOID:315"}
xref: UMLS:C0476203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99197"}
is_a: MONDO:0006424 {source="NCIT:C8964"} ! soft tissue neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002018 ! synovial membrane of synovial joint

[Term]
id: MONDO:0002529
name: skin squamous cell carcinoma
def: "A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated." [NCIT:C4819]
subset: otar {source="MONDO:OTAR"}
synonym: "CSCC" RELATED ABBREVIATION [ONCOTREE:CSCC]
synonym: "cutaneous squamous cell carcinoma" EXACT [NCIT:C4819]
synonym: "epidermoid carcinoma of skin" EXACT [NCIT:C4819]
synonym: "epidermoid carcinoma of the skin" EXACT [NCIT:C4819]
synonym: "epidermoid skin carcinoma" EXACT [DOID:3151, NCIT:C4819]
synonym: "skin squamous cell cancer" EXACT [NCIT:C4819]
synonym: "skin squamous cell carcinoma" EXACT [NCIT:C4819]
synonym: "squamous cell carcinoma - skin" EXACT [NCIT:C4819]
synonym: "squamous cell carcinoma of skin" EXACT [DOID:3151, NCIT:C4819]
synonym: "squamous cell carcinoma of the skin" EXACT [NCIT:C4819]
synonym: "squamous cell skin carcinoma" EXACT [NCIT:C4819]
synonym: "zone of skin squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3151 {source="MONDO:equivalentTo"}
xref: MEDGEN:107512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4819 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3151"}
xref: ONCOTREE:CSCC {source="MONDO:equivalentTo"}
xref: SCTID:254651007 {source="MONDO:equivalentTo", source="DOID:3151"}
xref: UMLS:C0553723 {source="MEDGEN:107512", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002656 {source="DOID:3151", source="MONDO:Redundant", source="NCIT:C4819"} ! skin carcinoma
is_a: MONDO:0005096 {source="DOID:3151", source="EFO:1001927", source="MONDO:Redundant", source="NCIT:C4819"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002530
name: obsolete malignant spindle cell melanoma
is_obsolete: true
replaced_by: MONDO:0006427

[Term]
id: MONDO:0002531
name: skin neoplasm
def: "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of skin" EXACT [NCIT:C3372]
synonym: "neoplasm of skin by site" EXACT [DOID:3165]
synonym: "neoplasm of the skin" EXACT [NCIT:C3372]
synonym: "neoplasm of zone of skin" EXACT [MONDO:patterns/neoplasm]
synonym: "skin" RELATED [ONCOTREE:SKIN]
synonym: "skin benign neoplasm" RELATED [DOID:3165]
synonym: "skin neoplasm" EXACT [DOID:3165, NCIT:C3372]
synonym: "skin neoplasms" EXACT [NCIT:C3372]
synonym: "skin tumor" EXACT [NCIT:C3372]
synonym: "skin tumour" EXACT OMO:0003005 []
synonym: "tumor of skin" EXACT [NCIT:C3372]
synonym: "tumor of the skin" EXACT [DOID:3165, NCIT:C3372]
synonym: "tumor of zone of skin" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of skin" EXACT OMO:0003005 []
synonym: "tumour of the skin" EXACT OMO:0003005 []
synonym: "tumour of zone of skin" EXACT OMO:0003005 []
synonym: "zone of skin neoplasm" EXACT []
synonym: "zone of skin neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "zone of skin tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "zone of skin tumour" EXACT OMO:0003005 []
xref: DOID:3165 {source="MONDO:equivalentTo"}
xref: EFO:0004198 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012878 {source="DOID:3165", source="MONDO:equivalentTo"}
xref: NCIT:C12470 {source="ONCOTREE:SKIN"}
xref: NCIT:C3372 {source="DOID:3165", source="MONDO:equivalentTo"}
xref: ONCOTREE:SKIN {source="MONDO:equivalentTo"}
xref: SCTID:126488004 {source="DOID:3165", source="MONDO:equivalentTo"}
xref: SCTID:363230005 {source="DOID:3165"}
xref: UMLS:C0037286 {source="MEDGEN:19993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="DOID:3165/inferred", source="MESH:D012878/inferred", source="MONDO:Redundant", source="NCIT:C3372/inferred"} ! neoplasm
is_a: MONDO:0005093 {source="MESH:D012878", source="MONDO:Redundant", source="NCIT:C3372"} ! skin disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002532
name: squamous cell neoplasm
def: "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example." [NCIT:C3792]
subset: otar {source="MONDO:OTAR"}
synonym: "epidermoid cell neoplasm" EXACT [NCIT:C3792]
synonym: "epidermoid cell tumor" EXACT [DOID:3168, NCIT:C3792]
synonym: "epidermoid cell tumour" EXACT OMO:0003005 []
synonym: "squamous cell neoplasm" EXACT [NCIT:C3792]
synonym: "squamous cell tumor" EXACT [NCIT:C3792]
synonym: "squamous cell tumor (qualifier value)" EXACT [DOID:3168]
synonym: "squamous cell tumour" EXACT OMO:0003005 []
synonym: "squamous cell tumour (qualifier value)" EXACT OMO:0003005 []
xref: DOID:3168 {source="MONDO:equivalentTo"}
xref: MEDGEN:60219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018307 {source="DOID:3168", source="MONDO:equivalentTo"}
xref: NCIT:C3792 {source="DOID:3168", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:118286007 {source="DOID:3168"}
xref: SCTID:134208005 {source="DOID:3168"}
xref: SCTID:189560002 {source="DOID:3168"}
xref: UMLS:C0206720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60219"}
is_a: MONDO:0005626 {source="MESH:D018307", source="NCIT:C3792"} ! epithelial neoplasm

[Term]
id: MONDO:0002533
name: papillary adenoma
def: "An adenoma characterized by the presence of papillary epithelial patterns." [NCIT:C79951]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma, papillary, benign" EXACT [NCIT:C79951]
synonym: "glandular papilloma" RELATED [DOID:3172, NCIT:C6880]
synonym: "papillary adenoma" EXACT [NCIT:C79951]
synonym: "papillary adenoma NOS (morphologic abnormality)" EXACT [DOID:3172]
xref: DOID:3172 {source="MONDO:equivalentTo"}
xref: MEDGEN:59999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000236 {source="DOID:3172"}
xref: NCIT:C79951 {source="MONDO:equivalentTo", source="DOID:3172"}
xref: SCTID:189620009 {source="DOID:3172"}
xref: SCTID:86143001 {source="DOID:3172"}
xref: UMLS:C0205650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:59999"}
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C79951"} ! adenoma
is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C79951"} ! papillary epithelial neoplasm
intersection_of: MONDO:0004972 {source="NCIT:C79951"} ! adenoma
intersection_of: MONDO:0021096 {source="NCIT:C79951"} ! papillary epithelial neoplasm
relationship: excluded_subClassOf MONDO:0002363 {source="DOID:3172", source="https://orcid.org/0000-0001-5208-3432"} ! papilloma

[Term]
id: MONDO:0002534
name: fallopian tube papilloma
def: "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." [NCIT:C40112]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube papilloma" EXACT [MONDO:patterns/location, NCIT:C40112]
synonym: "fallopian tube serous papilloma" EXACT [NCIT:C40112]
xref: DOID:3173 {source="MONDO:equivalentTo"}
xref: MEDGEN:275874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40112 {source="MONDO:equivalentTo", source="DOID:3173"}
xref: UMLS:C1517123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275874"}
is_a: MONDO:0000645 {source="DOID:3173", source="MONDO:Redundant", source="NCIT:C40112"} ! fallopian tube benign neoplasm
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C40112"} ! papilloma
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0002535
name: verrucous papilloma
def: "A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance." [NCIT:P378]
xref: DOID:3177 {source="MONDO:equivalentTo"}
xref: ICDO:8051/0 {source="NCIT:C4101"}
xref: MEDGEN:83114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4101 {source="DOID:3177", source="MONDO:equivalentTo"}
xref: SCTID:48218007 {source="DOID:3177"}
xref: UMLS:C0334243 {source="MEDGEN:83114", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002363 {source="DOID:3177"} ! papilloma

[Term]
id: MONDO:0002536
name: skin papilloma
def: "A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin." [NCIT:C4614]
synonym: "basosquamous tumor, benign" EXACT [NCIT:C4614]
synonym: "cutaneous papilloma" EXACT [DOID:3178, NCIT:C4614]
synonym: "papilloma of skin" EXACT [DOID:3178, NCIT:C4614]
synonym: "papilloma of the skin" EXACT [NCIT:C4614]
synonym: "skin papilloma" EXACT [NCIT:C4614]
synonym: "skin papilloma NOS" RELATED EXCLUDE [DOID:3178]
synonym: "zone of skin papilloma" EXACT [MONDO:patterns/location]
xref: DOID:3178 {source="MONDO:equivalentTo"}
xref: MEDGEN:91127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4614 {source="DOID:3178", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:154613008 {source="DOID:3178"}
xref: SCTID:189051001 {source="DOID:3178"}
xref: SCTID:255184001 {source="DOID:3178", source="MONDO:equivalentTo"}
xref: SCTID:269639005 {source="DOID:3178"}
xref: UMLS:C0347390 {source="MEDGEN:91127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002363 {source="DOID:3178", source="MONDO:Redundant", source="NCIT:C4614"} ! papilloma
is_a: MONDO:0002531 {source="DOID:3178", source="MONDO:Redundant", source="NCIT:C4614/inferred"} ! skin neoplasm
is_a: MONDO:0021440 {source="MONDO:Entailed", source="NCIT:C4614/inferred"} ! benign neoplasm of skin
is_a: MONDO:0021634 {source="MONDO:Entailed", source="NCIT:C4614/inferred"} ! epithelial skin neoplasm
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002537
name: inverted papilloma
def: "An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses." [NCIT:C3793]
subset: otar {source="MONDO:OTAR"}
synonym: "inverted papilloma" EXACT [DOID:3179, NCIT:C3793]
synonym: "inverted papilloma, squamous cell" EXACT [DOID:3179]
xref: DOID:3179 {source="MONDO:equivalentTo"}
xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:61668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018308 {source="DOID:3179", source="MONDO:equivalentTo"}
xref: NCIT:C3793 {source="DOID:3179", source="MONDO:equivalentTo"}
xref: SCTID:104081000119103 {source="DOID:3179", source="MONDO:equivalentTo"}
xref: UMLS:C0206721 {source="MONDO:equivalentTo", source="MEDGEN:61668", source="MONDO:MEDGEN"}
is_a: MONDO:0002363 {source="DOID:3179", source="MESH:D018308", source="NCIT:C3793"} ! papilloma

[Term]
id: MONDO:0002538
name: obsolete progressive muscular atrophy
is_obsolete: true
replaced_by: MONDO:0018687

[Term]
id: MONDO:0002539
name: obsolete oligodendroglioma
is_obsolete: true
replaced_by: MONDO:0016695

[Term]
id: MONDO:0002540
name: childhood oligodendroglioma
def: "An oligodendroglioma that arises from the central nervous system and occurs during childhood." [NCIT:C4045]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "oligodendroglioma" BROAD [NCIT:C4045]
synonym: "oligodendroglioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric oligodendroglioma" EXACT OMO:0003005 []
synonym: "pediatric oligodendroglioma" EXACT [DOID:3183, MONDO:patterns/childhood, NCIT:C4045]
xref: DOID:3183 {source="MONDO:equivalentTo"}
xref: MEDGEN:76116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009837 {source="DOID:3183"}
xref: NANDO:2200089 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4045 {source="MONDO:equivalentTo", source="DOID:3183"}
xref: UMLS:C0280475 {source="MEDGEN:76116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016695 {source="DOID:3183", source="MONDO:Redundant", source="NCIT:C4045"} ! oligodendroglioma
intersection_of: MONDO:0016695 ! oligodendroglioma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0002541
name: spinal cord oligodendroglioma
def: "A oligodendroglioma that involves the spinal cord." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "oligodendroglioma of spinal cord" EXACT [NCIT:C4535]
synonym: "spinal cord oligodendroglioma" EXACT [MONDO:patterns/location, NCIT:C4535]
synonym: "well differentiated spinal cord oligodendroglial tumor" EXACT [NCIT:C4535]
synonym: "well differentiated spinal cord oligodendroglial tumour" EXACT OMO:0003005 []
synonym: "well differentiated spinal cord oligodendroglioma" EXACT [DOID:3184, NCIT:C4535]
xref: DOID:3184 {source="MONDO:equivalentTo"}
xref: MEDGEN:138055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4535 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3184"}
xref: SCTID:254950006 {source="MONDO:equivalentTo", source="DOID:3184"}
xref: UMLS:C0346295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138055"}
is_a: MONDO:0002542 {source="DOID:3184", source="MONDO:Redundant", source="NCIT:C4535"} ! spinal cord glioma
is_a: MONDO:0016695 {source="DOID:3184", source="MONDO:Redundant", source="NCIT:C4535"} ! oligodendroglioma
intersection_of: MONDO:0016695 ! oligodendroglioma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0002542
name: spinal cord glioma
def: "A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma." [NCIT:C4534]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glial neoplasm spinal cord" EXACT [DOID:3185, NCIT:C4534]
synonym: "glial tumor of spinal cord" EXACT [NCIT:C4534]
synonym: "glial tumour of spinal cord" EXACT OMO:0003005 []
synonym: "glioma of spinal cord" EXACT [DOID:3185]
synonym: "malignant glioma of spinal cord" EXACT [MONDO:design_pattern]
synonym: "spinal cord glial neoplasm" EXACT [NCIT:C4534]
synonym: "spinal cord glial tumor" EXACT [NCIT:C4534]
synonym: "spinal cord glial tumour" EXACT OMO:0003005 []
synonym: "spinal cord glioma" EXACT [NCIT:C4534]
synonym: "spinal cord malignant glioma" EXACT [MONDO:patterns/location]
xref: DOID:3185 {source="MONDO:equivalentTo"}
xref: MEDGEN:423646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4534 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3185"}
xref: SCTID:254946004 {source="MONDO:equivalentTo"}
xref: SCTID:254947008 {source="DOID:3185"}
xref: UMLS:C2937245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423646"}
is_a: MONDO:0003544 {source="DOID:3185", source="MONDO:Entailed", source="MONDO:Redundant"} ! spinal cord cancer
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C4534"} ! glioma
is_a: MONDO:0100342 {source="DOID:3185", source="MONDO:Redundant"} ! malignant glioma
intersection_of: MONDO:0100342 ! malignant glioma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0002543
name: adult oligodendroglioma
def: "An oligodendroglioma occurring during adulthood." [NCIT:C4014]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult brain oligodendroglioma" NARROW [DOID:3186]
synonym: "adult oligodendroglioma" EXACT [NCIT:C4014]
synonym: "grade II adult oligodendroglial tumor" EXACT [DOID:3186, NCIT:C4014]
synonym: "grade II adult oligodendroglial tumour" EXACT OMO:0003005 []
synonym: "oligodendroglioma" BROAD [NCIT:C4014]
synonym: "oligodendroglioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:3186 {source="MONDO:equivalentTo"}
xref: MEDGEN:75924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009837 {source="DOID:3186"}
xref: NANDO:2200089 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4014 {source="MONDO:equivalentTo", source="DOID:3186"}
xref: NCIT:C9376 {source="DOID:3186"}
xref: UMLS:C0279070 {source="MONDO:equivalentTo", source="MEDGEN:75924", source="MONDO:MEDGEN"}
is_a: MONDO:0016695 {source="DOID:3186", source="MONDO:Redundant", source="NCIT:C4014"} ! oligodendroglioma
intersection_of: MONDO:0016695 ! oligodendroglioma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0002544
name: brain oligodendroglioma
def: "A oligodendroglioma that involves the brain." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "brain oligodendroglioma" EXACT [DOID:3187, MONDO:patterns/location, NCIT:C9377]
synonym: "oligodendroglioma of brain" EXACT [NCIT:C9377]
synonym: "oligodendroglioma of the brain" EXACT [NCIT:C9377]
xref: DOID:3187 {source="MONDO:equivalentTo"}
xref: MEDGEN:91095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9377 {source="DOID:3187", source="MONDO:equivalentTo"}
xref: SCTID:254940005 {source="DOID:3187", source="MONDO:equivalentTo"}
xref: UMLS:C0346286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91095"}
is_a: MONDO:0005499 {source="DOID:3187", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0016695 {source="DOID:3187", source="MONDO:Redundant", source="NCIT:C9377"} ! oligodendroglioma
intersection_of: MONDO:0016695 ! oligodendroglioma
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0002545
name: spinal cord disorder
def: "A disease involving the spinal cord." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of spinal cord" EXACT [MONDO:patterns/location_top]
synonym: "disease of the spinal cord" EXACT [ISBN-13:978-1-259-64403-0]
synonym: "disease or disorder of spinal cord" EXACT []
synonym: "disorder of spinal cord" EXACT [MONDO:patterns/location_top]
synonym: "myelopathy" RELATED [DOID:319]
synonym: "spinal cord disease" EXACT [MONDO:patterns/location]
synonym: "spinal cord disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "spinal cord disorder" EXACT [NCIT:C97110]
xref: DOID:319 {source="MONDO:equivalentTo"}
xref: EFO:0009488 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G95.9 {source="DOID:319"}
xref: ICD9:336.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:336.9 {source="MONDO:equivalentTo", source="DOID:319", source="MONDO:i2s"}
xref: MEDGEN:11550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013118 {source="MONDO:equivalentTo", source="DOID:319"}
xref: NCIT:C97110 {source="MONDO:equivalentTo", source="DOID:319"}
xref: SCTID:155020007 {source="DOID:319"}
xref: SCTID:192908002 {source="DOID:319"}
xref: SCTID:192913003 {source="DOID:319"}
xref: SCTID:267587000 {source="DOID:319"}
xref: SCTID:267695005 {source="DOID:319"}
xref: SCTID:48522003 {source="MONDO:equivalentTo", source="DOID:319"}
xref: SCTID:95648003 {source="DOID:319"}
xref: UMLS:C0037928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11550"}
is_a: MONDO:0002602 {source="DOID:319", source="MESH:D013118", source="MONDO:Redundant", source="NCIT:C97110"} ! central nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0002546
name: schwannoma
def: "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported." [NCIT:C3269]
subset: gard_rare {source="GARD:4767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:252164"}
subset: orphanet_rare {source="Orphanet:252164"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign neurilemmoma" EXACT [MONDO:0004818, NCIT:C3269]
synonym: "benign schwannoma" EXACT [MONDO:0016753, NCIT:C3269]
synonym: "neurilemmoma" EXACT [NCIT:C3269, Orphanet:252164]
synonym: "neurinoma" EXACT [NCIT:C3269]
synonym: "neurolemmoma" RELATED [GARD:0004767]
synonym: "peripheral fibroblastoma" EXACT [Orphanet:252164]
synonym: "psammomatous schwannoma" EXACT [DOID:3192]
synonym: "SCHW" RELATED ABBREVIATION [ONCOTREE:SCHW]
synonym: "schwannoma" EXACT [DOID:3192, NCIT:C3269]
synonym: "schwannoma (WHO grade I)" EXACT [NCIT:C3269]
synonym: "schwannoma, benign" EXACT [NCIT:C3269]
xref: DOID:3192 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:955 {source="MONDO:equivalentTo"}
xref: EFO:0000693 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4767 {source="MONDO:GARD"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9560/0 {source="NCIT:C3269"}
xref: MedDRA:10029234 {source="Orphanet:252164", source="Orphanet:252164/e"}
xref: MedDRA:10029235 {source="Orphanet:252164", source="Orphanet:252164/e"}
xref: MEDGEN:45053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009442 {source="DOID:3192"}
xref: NANDO:2200103 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3269 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SCHW {source="MONDO:equivalentTo"}
xref: Orphanet:252164 {source="MONDO:equivalentTo"}
xref: SCTID:189948006 {source="DOID:3192"}
xref: SCTID:404022001 {source="MONDO:equivalentTo", source="DOID:3192"}
xref: SCTID:985004 {source="DOID:3192"}
xref: UMLS:C0027809 {source="MONDO:equivalentTo", source="MEDGEN:45053", source="MONDO:MEDGEN"}
is_a: MONDO:0002547 {source="NCIT:C3269", source="ONCOTREE:SCHW"} ! nerve sheath neoplasm
is_a: MONDO:0016752 {source="Orphanet:252164"} ! benign peripheral nerve sheath tumor
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0002573 ! Schwann cell
relationship: has_characteristic MONDO:0024491 {source="NCIT:C3269"} ! tumor grade 1, general grading system
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4767/schwannoma" xsd:anyURI {source="GARD:0004767"}

[Term]
id: MONDO:0002547
name: nerve sheath neoplasm
def: "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor." [NCIT:C4972]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of nerve sheath" EXACT [NCIT:C4972]
synonym: "neoplasm of the nerve sheath" EXACT [DOID:3193, NCIT:C4972]
synonym: "nerve sheath neoplasm" EXACT [NCIT:C4972]
synonym: "nerve sheath tumor" EXACT [DOID:3193, NCIT:C4972]
synonym: "nerve sheath tumour" EXACT OMO:0003005 []
synonym: "peripheral nerve sheath neoplasm" EXACT []
synonym: "tumor of nerve sheath" EXACT [NCIT:C4972]
synonym: "tumour of nerve sheath" EXACT OMO:0003005 []
xref: DOID:3193 {source="MONDO:equivalentTo"}
xref: MEDGEN:64639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018317 {source="MONDO:equivalentTo", source="DOID:3193"}
xref: NCIT:C4972 {source="MONDO:equivalentTo"}
xref: ONCOTREE:NST {source="MONDO:equivalentTo"}
xref: UMLS:C0206727 {source="MEDGEN:64639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001406 {source="DOID:3193", source="MESH:D018317", source="ONCOTREE:NST"} ! peripheral nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0002576 ! perineurial cell
relationship: disease_arises_from_structure CL:0002576 {source="NCIT:C4972"} ! perineurial cell

[Term]
id: MONDO:0002548
name: cellular schwannoma
def: "A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies." [NCIT:C4724]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cellular neurilemmoma" EXACT [NCIT:C4724]
synonym: "cellular neurinoma" EXACT [DOID:3196, NCIT:C4724]
synonym: "cellular schwannoma" EXACT [NCIT:C4724]
synonym: "CSCHW" RELATED ABBREVIATION [ONCOTREE:CSCHW]
xref: DOID:3196 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4724 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3196"}
xref: ONCOTREE:CSCHW {source="MONDO:equivalentTo"}
xref: SCTID:253086004 {source="DOID:3196"}
xref: SCTID:404026003 {source="MONDO:equivalentTo", source="DOID:3196"}
xref: SCTID:985004 {source="DOID:3196"}
xref: UMLS:C0431124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98124"}
is_a: MONDO:0002546 {source="DOID:3196", source="NCIT:C4724", source="ONCOTREE:CSCHW"} ! schwannoma

[Term]
id: MONDO:0002549
name: schwannoma of twelfth cranial nerve
def: "A schwannoma that involves the hypoglossal nerve." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hypoglossal nerve neurilemmoma" EXACT [NCIT:C5434]
synonym: "hypoglossal nerve schwannoma" EXACT [MONDO:patterns/location, NCIT:C5434]
synonym: "hypoglossal neurilemmoma" EXACT [NCIT:C5434]
synonym: "hypoglossal schwannoma" EXACT [DOID:3197, NCIT:C5434]
synonym: "neurilemmoma of hypoglossal nerve" EXACT [NCIT:C5434]
synonym: "neurilemmoma of the hypoglossal nerve" EXACT [NCIT:C5434]
synonym: "neurilemmoma of the twelfth cranial nerve" EXACT [NCIT:C5434]
synonym: "neurilemmoma of twelfth cranial nerve" EXACT [NCIT:C5434]
synonym: "schwannoma of hypoglossal nerve" EXACT [NCIT:C5434]
synonym: "schwannoma of the hypoglossal nerve" EXACT [NCIT:C5434]
synonym: "schwannoma of the twelfth cranial nerve" EXACT [NCIT:C5434]
synonym: "schwannoma of twelfth cranial nerve" EXACT [NCIT:C5434]
synonym: "twelfth cranial nerve neurilemmoma" EXACT [NCIT:C5434]
synonym: "twelfth cranial nerve schwannoma" EXACT [NCIT:C5434]
xref: DOID:3197 {source="MONDO:equivalentTo"}
xref: MEDGEN:235581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5434 {source="MONDO:equivalentTo", source="DOID:3197"}
xref: UMLS:C1335928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235581"}
is_a: MONDO:0002546 {source="DOID:3197", source="MONDO:Redundant", source="NCIT:C5434"} ! schwannoma
is_a: MONDO:0002550 {source="DOID:3197", source="MONDO:Redundant", source="NCIT:C5434"} ! hypoglossal nerve neoplasm
intersection_of: MONDO:0002546 ! schwannoma
intersection_of: disease_has_location UBERON:0001650 ! hypoglossal nerve

[Term]
id: MONDO:0002550
name: hypoglossal nerve neoplasm
def: "A neoplasm involving a hypoglossal nerve." [MONDO:patterns/neoplasm]
synonym: "hypoglossal nerve neoplasm" EXACT [NCIT:C5830]
synonym: "hypoglossal nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hypoglossal nerve neoplasms" EXACT [NCIT:C5830]
synonym: "hypoglossal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5830]
synonym: "hypoglossal nerve tumors" EXACT [NCIT:C5830]
synonym: "hypoglossal nerve tumour" EXACT OMO:0003005 []
synonym: "hypoglossal nerve tumours" EXACT OMO:0003005 []
synonym: "neoplasm of hypoglossal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5830]
synonym: "neoplasm of the hypoglossal nerve" EXACT [NCIT:C5830]
synonym: "neoplasm of the twelfth cranial nerve" EXACT [NCIT:C5830]
synonym: "neoplasm of twelfth cranial nerve" EXACT [NCIT:C5830]
synonym: "tumor of hypoglossal nerve" EXACT [DOID:3198, MONDO:patterns/neoplasm, NCIT:C5830]
synonym: "tumor of the hypoglossal nerve" EXACT [NCIT:C5830]
synonym: "tumor of the twelfth cranial nerve" EXACT [NCIT:C5830]
synonym: "tumor of twelfth cranial nerve" EXACT [NCIT:C5830]
synonym: "tumour of hypoglossal nerve" EXACT OMO:0003005 []
synonym: "tumour of the hypoglossal nerve" EXACT OMO:0003005 []
synonym: "tumour of the twelfth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of twelfth cranial nerve" EXACT OMO:0003005 []
synonym: "twelfth cranial nerve neoplasm" EXACT [NCIT:C5830]
synonym: "twelfth cranial nerve neoplasms" EXACT [NCIT:C5830]
synonym: "twelfth cranial nerve tumor" EXACT [NCIT:C5830]
synonym: "twelfth cranial nerve tumors" EXACT [NCIT:C5830]
synonym: "twelfth cranial nerve tumour" EXACT OMO:0003005 []
synonym: "twelfth cranial nerve tumours" EXACT OMO:0003005 []
synonym: "XIIth cranial nerve neoplasms" EXACT [NCIT:C5830]
synonym: "XIIth cranial nerve tumors" EXACT [NCIT:C5830]
synonym: "XIIth cranial nerve tumours" EXACT OMO:0003005 []
xref: DOID:3198 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5830 {source="DOID:3198", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126978008 {source="DOID:3198", source="MONDO:equivalentTo"}
xref: UMLS:C1263903 {source="MEDGEN:220392", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001810 {source="MONDO:Redundant", source="NCIT:C5830"} ! hypoglossal nerve disorder
is_a: MONDO:0002633 {source="DOID:3198", source="MONDO:Redundant", source="NCIT:C5830"} ! cranial nerve neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001650 ! hypoglossal nerve

[Term]
id: MONDO:0002551
name: c-P angle neurinoma
synonym: "cerebellar Pontine angle neurinoma" EXACT [NCIT:C5413]
synonym: "cerebellopontine angle neurinoma" EXACT [DOID:3199, NCIT:C5413]
synonym: "cerebellopontine angle schwannoma" EXACT [NCIT:C5413]
xref: DOID:3199 {source="MONDO:equivalentTo"}
xref: MEDGEN:232046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5413 {source="DOID:3199", source="MONDO:equivalentTo"}
xref: UMLS:C1332905 {source="MONDO:equivalentTo", source="MEDGEN:232046", source="MONDO:MEDGEN"}
is_a: MONDO:0002553 {source="DOID:3199", source="NCIT:C5413"} ! cerebellopontine angle tumor

[Term]
id: MONDO:0002552
name: vascular myelopathy
synonym: "vascular myelopathies" EXACT [DOID:320, ICD9CM:336.1]
xref: DOID:320 {source="MONDO:equivalentTo"}
xref: ICD10CM:G95.1 {source="MONDO:equivalentTo", source="DOID:320"}
xref: ICD9:336.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:320"}
xref: MEDGEN:509629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155018009 {source="DOID:320"}
xref: SCTID:192896006 {source="DOID:320"}
xref: SCTID:192903006 {source="DOID:320"}
xref: SCTID:29774004 {source="MONDO:equivalentTo", source="DOID:320"}
xref: UMLS:C0154685 {source="MEDGEN:509629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002545 {source="DOID:320"} ! spinal cord disorder

[Term]
id: MONDO:0002553
name: cerebellopontine angle tumor
def: "A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma." [NCIT:P378]
synonym: "C-P angle neoplasm" EXACT [NCIT:C5414]
synonym: "C-P angle tumor" EXACT [NCIT:C5414]
synonym: "C-P angle tumour" EXACT OMO:0003005 []
synonym: "cerebellar Pontine angle neoplasm" EXACT [NCIT:C5414]
synonym: "cerebellar Pontine angle tumor" EXACT [NCIT:C5414]
synonym: "cerebellar Pontine angle tumour" EXACT OMO:0003005 []
synonym: "cerebellopontine angle neoplasm" EXACT [NCIT:C5414]
synonym: "cerebellopontine angle neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cerebellopontine angle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5414]
synonym: "neoplasm of C-P angle" EXACT [NCIT:C5414]
synonym: "neoplasm of cerebellar Pontine angle" EXACT [NCIT:C5414]
synonym: "neoplasm of cerebellopontine angle" EXACT [MONDO:patterns/neoplasm, NCIT:C5414]
synonym: "neoplasm of the C-P angle" EXACT [NCIT:C5414]
synonym: "neoplasm of the cerebellar Pontine angle" EXACT [NCIT:C5414]
synonym: "neoplasm of the cerebellopontine angle" EXACT [DOID:3200, NCIT:C5414]
synonym: "tumor of C-P angle" EXACT [NCIT:C5414]
synonym: "tumor of cerebellar Pontine angle" EXACT [NCIT:C5414]
synonym: "tumor of cerebellopontine angle" EXACT [MONDO:patterns/neoplasm, NCIT:C5414]
synonym: "tumor of the C-P angle" EXACT [NCIT:C5414]
synonym: "tumor of the cerebellar Pontine angle" EXACT [NCIT:C5414]
synonym: "tumor of the cerebellopontine angle" EXACT [NCIT:C5414]
synonym: "tumour of C-P angle" EXACT OMO:0003005 []
synonym: "tumour of cerebellar Pontine angle" EXACT OMO:0003005 []
synonym: "tumour of cerebellopontine angle" EXACT OMO:0003005 []
synonym: "tumour of the C-P angle" EXACT OMO:0003005 []
synonym: "tumour of the cerebellar Pontine angle" EXACT OMO:0003005 []
synonym: "tumour of the cerebellopontine angle" EXACT OMO:0003005 []
xref: DOID:3200 {source="MONDO:equivalentTo"}
xref: MEDGEN:99181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5414 {source="DOID:3200", source="MONDO:equivalentTo"}
xref: SCTID:126947009 {source="MONDO:equivalentTo"}
xref: UMLS:C0474740 {source="MEDGEN:99181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0014908 ! cerebellopontine angle
relationship: excluded_subClassOf MONDO:0002912 {source="DOID:3200", source="https://orcid.org/0000-0001-5208-3432"} ! brainstem cancer

[Term]
id: MONDO:0002554
name: sympathetic neurilemmoma
def: "A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sympathetic schwannoma" EXACT [NCIT:C5421]
xref: DOID:3201 {source="MONDO:equivalentTo"}
xref: MEDGEN:236964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5421 {source="DOID:3201", source="MONDO:equivalentTo"}
xref: UMLS:C1336543 {source="MEDGEN:236964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002366 {source="DOID:3201", source="MONDO:Entailed"} ! autonomic nervous system neoplasm
is_a: MONDO:0002546 {source="DOID:3201", source="NCIT:C5421/inferred"} ! schwannoma

[Term]
id: MONDO:0002555
name: trigeminal schwannoma
def: "A schwannoma that involves the trigeminal nerve." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fifth cranial nerve neurilemmoma" EXACT [NCIT:C4655]
synonym: "fifth cranial nerve schwannoma" EXACT [NCIT:C4655]
synonym: "neurilemmoma of fifth cranial nerve" EXACT [NCIT:C4655]
synonym: "neurilemmoma of the fifth cranial nerve" EXACT [NCIT:C4655]
synonym: "neurilemmoma of the trigeminal nerve" EXACT [NCIT:C4655]
synonym: "neurilemmoma of trigeminal nerve" EXACT [NCIT:C4655]
synonym: "schwannoma of fifth cranial nerve" EXACT [NCIT:C4655]
synonym: "schwannoma of the fifth cranial nerve" EXACT [NCIT:C4655]
synonym: "schwannoma of the trigeminal nerve" EXACT [NCIT:C4655]
synonym: "schwannoma of trigeminal nerve" EXACT [NCIT:C4655]
synonym: "trigeminal nerve schwannoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "trigeminal neurilemmoma" EXACT [DOID:3202, NCIT:C4655]
synonym: "trigeminal schwannoma" EXACT [NCIT:C4655]
xref: DOID:3202 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4655 {source="DOID:3202", source="MONDO:equivalentTo"}
xref: SCTID:277185000 {source="DOID:3202", source="MONDO:equivalentTo"}
xref: UMLS:C0349582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83890"}
is_a: MONDO:0001420 {source="DOID:3202", source="MONDO:Redundant", source="NCIT:C4655"} ! trigeminal nerve neoplasm
is_a: MONDO:0002546 {source="DOID:3202", source="MONDO:Redundant", source="NCIT:C4655"} ! schwannoma
intersection_of: MONDO:0002546 ! schwannoma
intersection_of: disease_has_location UBERON:0001645 ! trigeminal nerve

[Term]
id: MONDO:0002556
name: microcystic/reticular schwannoma
def: "The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue." [NCIT:C5321]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "microcystic/reticular schwannoma" EXACT [NCIT:C5321]
xref: MEDGEN:882329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5321 {source="DOID:3203", source="MONDO:equivalentTo"}
xref: UMLS:C4054526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:882329"}
is_a: MONDO:0002546 {source="NCIT:C5321"} ! schwannoma

[Term]
id: MONDO:0002557
name: obsolete schwannomatosis
is_obsolete: true
replaced_by: MONDO:0008075

[Term]
id: MONDO:0002558
name: melanotic neurilemmoma
def: "A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "melanocytic neurilemmoma" EXACT [NCIT:C6970]
synonym: "melanocytic schwannoma" EXACT [NCIT:C6970]
synonym: "melanotic neurinoma" EXACT [NCIT:C6970]
synonym: "melanotic schwannoma" EXACT [NCIT:C6970]
synonym: "melanotic schwannoma (morphologic abnormality)" EXACT [DOID:3205]
synonym: "MSCHW" RELATED ABBREVIATION [ONCOTREE:MSCHW]
synonym: "pigmented neurilemmoma" EXACT [DOID:3205, NCIT:C6970]
synonym: "pigmented schwannoma" EXACT [DOID:3205]
xref: DOID:3205 {source="MONDO:equivalentTo"}
xref: ICD9:215.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6970 {source="DOID:3205", source="MONDO:equivalentTo"}
xref: ONCOTREE:MSCHW {source="MONDO:equivalentTo"}
xref: SCTID:253088003 {source="DOID:3205"}
xref: SCTID:404024000 {source="DOID:3205", source="MONDO:equivalentTo"}
xref: SCTID:985004 {source="DOID:3205"}
xref: UMLS:C1306247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266292"}
is_a: MONDO:0002546 {source="DOID:3205", source="ONCOTREE:MSCHW"} ! schwannoma

[Term]
id: MONDO:0002559
name: plexiform schwannoma
def: "A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "plexiform neurilemmoma" EXACT [DOID:3206]
synonym: "plexiform neurinoma" EXACT [DOID:3206, NCIT:C6969]
synonym: "plexiform schwannoma" EXACT [DOID:3206]
synonym: "plexiform schwannoma (morphologic abnormality)" EXACT [DOID:3206]
xref: DOID:3206 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:277972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6969 {source="MONDO:equivalentTo", source="DOID:3206"}
xref: SCTID:253087008 {source="DOID:3206"}
xref: SCTID:404025004 {source="MONDO:equivalentTo", source="DOID:3206"}
xref: SCTID:985004 {source="DOID:3206"}
xref: UMLS:C1370659 {source="MEDGEN:277972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002546 {source="DOID:3206", source="NCIT:C6969"} ! schwannoma

[Term]
id: MONDO:0002560
name: obsolete junctional epidermolysis bullosa
is_obsolete: true
replaced_by: MONDO:0017612

[Term]
id: MONDO:0002561
name: lysosomal storage disease
def: "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins." [PMID:21723623]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:18884", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:68366"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of lysosomal enzyme" EXACT [DOID:3211]
synonym: "disorder of lysosomal enzymes" EXACT [NCIT:C61250]
synonym: "inborn lysosomal enzyme disorder" EXACT [DOID:3211]
synonym: "lysosomal disease" EXACT [MONDO:0019051]
synonym: "lysosomal disorder" EXACT []
synonym: "lysosomal storage disorder" EXACT [NCIT:C61250]
synonym: "lysosomal storage metabolism disorder" EXACT [DOID:3211]
synonym: "lysosome disease" EXACT []
synonym: "lysosome disorder" EXACT []
synonym: "phospholipidosis" RELATED [NCIT:C61250]
xref: DOID:3211 {source="MONDO:equivalentTo"}
xref: GARD:18884 {source="MONDO:GARD"}
xref: icd11.foundation:656131403 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:68366"}
xref: MEDGEN:43098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016464 {source="DOID:3211", source="MONDO:equivalentTo"}
xref: NANDO:1200055 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100165 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61250 {source="DOID:3211", source="MONDO:equivalentTo"}
xref: Orphanet:68366 {source="MONDO:equivalentTo"}
xref: SCTID:23585005 {source="DOID:3211", source="MONDO:equivalentTo"}
xref: UMLS:C0085078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43098"}
is_a: MONDO:0019052 {source="DOID:3211", source="MESH:D016464", source="MONDO:Entailed", source="NCIT:C61250", source="Orphanet:68366"} ! inborn errors of metabolism
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome

[Term]
id: MONDO:0002562
name: demyelinating disease
def: "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "demyelinating disorder" EXACT [DOID:3213, NCIT:C34527]
xref: DOID:3213 {source="MONDO:equivalentTo"}
xref: ICD10CM:G35-G37
xref: MEDGEN:4189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003711 {source="DOID:3213", source="MONDO:equivalentTo"}
xref: NCIT:C34527 {source="DOID:3213", source="MONDO:equivalentTo"}
xref: UMLS:C0011303 {source="MEDGEN:4189", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="DOID:3213", source="MONDO:Redundant", source="NCIT:C34527"} ! neurodegenerative disease
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: disease_disrupts GO:0043217 ! myelin maintenance

[Term]
id: MONDO:0002563
name: jejunal somatostatinoma
def: "A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Delta cell tumor of jejunum" EXACT [NCIT:C5787]
synonym: "Delta cell tumor of the jejunum" EXACT [NCIT:C5787]
synonym: "Delta cell tumour of jejunum" EXACT OMO:0003005 []
synonym: "Delta cell tumour of the jejunum" EXACT OMO:0003005 []
synonym: "jejunal delta cell somatostatin producing tumor" EXACT [DOID:3216]
synonym: "jejunal delta cell somatostatin producing tumour" EXACT OMO:0003005 []
synonym: "jejunal somatostatin producing tumor" EXACT [NCIT:C5787]
synonym: "jejunal somatostatin producing tumour" EXACT OMO:0003005 []
synonym: "jejunal somatostatin-producing NET" EXACT [NCIT:C5787]
synonym: "jejunal somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C5787]
synonym: "jejunal somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "Somatosatinoma of jejunum" EXACT [DOID:3216, NCIT:C5787]
synonym: "Somatosatinoma of the jejunum" EXACT [NCIT:C5787]
xref: DOID:3216 {source="MONDO:equivalentTo"}
xref: MEDGEN:233585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5787 {source="DOID:3216", source="MONDO:equivalentTo"}
xref: UMLS:C1334297 {source="MEDGEN:233585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015064 {source="NCIT:C5787"} ! jejunal neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: excluded_subClassOf MONDO:0006815 {source="DOID:3216", source="https://orcid.org/0000-0001-5208-3432"} ! jejunal cancer

[Term]
id: MONDO:0002564
name: jejunal neoplasm
def: "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "jejunal tumor" EXACT [DOID:3218, NCIT:C8401]
synonym: "jejunal tumour" EXACT OMO:0003005 []
synonym: "jejunum neoplasm" EXACT []
synonym: "jejunum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "jejunum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "jejunum tumour" EXACT OMO:0003005 []
synonym: "neoplasm of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm]
synonym: "neoplasm of the jejunum" EXACT [NCIT:C8401]
synonym: "tumor of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm]
synonym: "tumor of the jejunum" EXACT [NCIT:C8401]
synonym: "tumour of jejunum" EXACT OMO:0003005 []
synonym: "tumour of the jejunum" EXACT OMO:0003005 []
xref: DOID:3218 {source="MONDO:equivalentTo"}
xref: MEDGEN:7187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007580 {source="MONDO:equivalentTo", source="DOID:3218"}
xref: NCIT:C8401 {source="MONDO:equivalentTo", source="DOID:3218"}
xref: SCTID:126834003 {source="MONDO:equivalentTo", source="DOID:3218"}
xref: SCTID:254575004 {source="DOID:3218"}
xref: UMLS:C0022374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7187"}
is_a: MONDO:0004251 {source="DOID:3218", source="MONDO:Redundant", source="NCIT:C8401"} ! small intestine neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002115 ! jejunum

[Term]
id: MONDO:0002565
name: myelitis
def: "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of spinal cord" EXACT []
synonym: "spinal cord inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:322 {source="MONDO:equivalentTo"}
xref: EFO:1001472 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009187 {source="MONDO:equivalentTo", source="DOID:322"}
xref: NCIT:C26832 {source="MONDO:equivalentTo", source="DOID:322"}
xref: SCTID:192682002 {source="DOID:322"}
xref: SCTID:267682000 {source="DOID:322"}
xref: SCTID:41370002 {source="MONDO:equivalentTo", source="DOID:322"}
xref: UMLS:C0026975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10230"}
is_a: MONDO:0002545 {source="DOID:322", source="MESH:D009187", source="MONDO:Redundant"} ! spinal cord disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002240 ! spinal cord
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7130/myelitis" xsd:anyURI {source="GARD:0007130"}

[Term]
id: MONDO:0002566
name: obsolete complex regional pain syndrome
is_obsolete: true
replaced_by: MONDO:0019369

[Term]
id: MONDO:0002567
name: tracheal disorder
def: "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma." [NCIT:P378]
synonym: "disease of trachea" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of trachea" EXACT []
synonym: "disorder of trachea" EXACT [MONDO:patterns/location_top, NCIT:C35079]
synonym: "trachea disease" EXACT [MONDO:patterns/location]
synonym: "trachea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "tracheal disorder" EXACT [NCIT:C35079]
xref: DOID:3225 {source="MONDO:equivalentTo"}
xref: ICD10CM:S12.8 {source="DOID:3225"}
xref: MEDGEN:892789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014133 {source="DOID:3225", source="MONDO:equivalentTo"}
xref: NCIT:C35079 {source="DOID:3225", source="MONDO:equivalentTo"}
xref: SCTID:47125007 {source="DOID:3225", source="MONDO:equivalentTo"}
xref: UMLS:C4025678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:892789"}
is_a: MONDO:0004867 {source="DOID:3225"} ! upper respiratory tract disorder
is_a: MONDO:0005087 {source="DOID:3225/inferred", source="MESH:D014133", source="NCIT:C35079"} ! respiratory system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0002568
name: tracheal stenosis
def: "Narrowing of the lumen of the trachea." [NCIT:P378]
synonym: "stenosis of trachea" EXACT [DOID:3227]
xref: DOID:3227 {source="MONDO:equivalentTo"}
xref: ICD9:519.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014135 {source="DOID:3227", source="MONDO:equivalentTo"}
xref: NANDO:2200194 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C78646 {source="DOID:3227", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:11296007 {source="DOID:3227", source="MONDO:equivalentTo"}
xref: UMLS:C0040583 {source="MEDGEN:21227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002567 {source="DOID:3227", source="MESH:D014135"} ! tracheal disorder

[Term]
id: MONDO:0002569
name: gastric dilatation
def: "Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation." [MESH:D013271]
synonym: "stomach dilatation" EXACT [DOID:3229]
xref: DOID:3229 {source="MONDO:equivalentTo"}
xref: MEDGEN:11602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013271 {source="MONDO:equivalentTo", source="DOID:3229"}
xref: UMLS:C0038353 {source="MEDGEN:11602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004298 {source="DOID:3229", source="MESH:D013271"} ! stomach disorder

[Term]
id: MONDO:0002570
name: high pressure neurological syndrome
def: "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium." [MESH:D006610]
xref: DOID:3230 {source="MONDO:equivalentTo"}
xref: MEDGEN:5553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006610 {source="MONDO:equivalentTo", source="DOID:3230"}
xref: UMLS:C0019537 {source="MEDGEN:5553", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002602 {source="DOID:3230", source="MESH:D006610"} ! central nervous system disorder

[Term]
id: MONDO:0002571
name: primary central nervous system lymphoma
alt_id: MONDO:0018732
def: "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." [NCIT:C9301]
subset: gard_rare {source="GARD:9318", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2002"}
subset: ordo_disorder {source="Orphanet:46135"}
subset: orphanet_rare {source="Orphanet:46135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system lymphoma" EXACT [MONDO:0006129, MONDO:patterns/location, NCIT:C9301]
synonym: "CNS lymphoma" EXACT [NCIT:C9301]
synonym: "lymphoma of central nervous system" EXACT [MONDO:design_pattern]
synonym: "malignant lymphomas of CNS" EXACT [NCIT:C9301]
synonym: "malignant lymphomas of the CNS" EXACT [NCIT:C9301]
synonym: "microglioma" EXACT [DOID:3234, Wikipedia:Primary_central_nervous_system_lymphoma]
synonym: "PCNSL" EXACT ABBREVIATION [NCIT:C9301, Orphanet:46135]
synonym: "primary brain lymphoma" EXACT [Orphanet:46135]
synonym: "primary central nervous system lymphoma" EXACT [NCIT:C9301]
synonym: "primary CNS lymphoma" EXACT [DOID:3234, NCIT:C9301, Orphanet:46135]
synonym: "primary lymphoma, CNS" RELATED [GARD:0009318]
xref: DOID:3234 {source="MONDO:equivalentTo"}
xref: EFO:1000157 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9318 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:46135/ntbt", source="Orphanet:46135"}
xref: ICD9:200.5 {source="DOID:3234"}
xref: MedDRA:10036685 {source="Orphanet:46135/e", source="Orphanet:46135"}
xref: MEDGEN:79187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9301 {source="DOID:3234", source="ONCOTREE:PCNSL", source="EFO:1000157", source="MONDO:equivalentTo"}
xref: NORD:2002 {source="MONDO:NORD"}
xref: ONCOTREE:PCNSL {source="MONDO:equivalentTo"}
xref: Orphanet:46135 {source="MONDO:equivalentTo"}
xref: SCTID:190006007 {source="DOID:3234"}
xref: SCTID:21964009 {source="DOID:3234"}
xref: SCTID:307649006 {source="DOID:3234", source="MONDO:equivalentTo", source="MONDO:directSiblingOf"}
xref: SCTID:69110006 {source="DOID:3234"}
xref: UMLS:C0280803 {source="MEDGEN:79187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002714 {source="DOID:3234/inferred", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system cancer
is_a: MONDO:0003641 {source="DOID:3234", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system hematopoietic neoplasm
is_a: MONDO:0004949 {source="ONCOTREE:PCNSL"} ! neoplasm of mature B-cells
is_a: MONDO:0005062 {source="DOID:3234", source="EFO:1000157", source="MONDO:Redundant", source="NCIT:C9301/inferred"} ! lymphoma
is_a: MONDO:0017207 {source="Orphanet:46135"} ! primary organ-specific lymphoma
is_a: MONDO:0017343 {source="Orphanet:46135"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0021248 {source="Orphanet:46135"} ! nervous system neoplasm
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020036"} ! rare

[Term]
id: MONDO:0002572
name: aspiration pneumonitis
def: "Inflammation of the lungs due to the inhalation of solid or liquid material." [NCIT:C34932]
subset: otar {source="MONDO:OTAR"}
synonym: "aspiration pneumonia" RELATED [NCIT:C34932]
synonym: "chemical pneumonitis" NARROW [DOID:3240]
synonym: "Mendelson's syndrome" RELATED EXCLUDE [DOID:3240]
xref: DOID:3240 {source="MONDO:equivalentTo"}
xref: EFO:1001399 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J69.0 {source="DOID:3240"}
xref: MEDGEN:740734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011015 {source="MONDO:relatedTo", source="DOID:3240"}
xref: NCIT:C34932 {source="MONDO:equivalentTo"}
xref: SCTID:155597006 {source="MONDO:equivalentTo"}
xref: SCTID:422588002 {source="MONDO:relatedTo", source="DOID:3240"}
xref: SCTID:47839005 {source="DOID:3240"}
xref: UMLS:C1761609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:740734"}
is_a: MONDO:0043905 {source="NCIT:C34932"} ! pneumonitis
relationship: disease_has_feature HP:0001250 ! Seizure
relationship: disease_has_feature HP:0001297 ! Stroke
relationship: disease_has_feature HP:0002090 ! Pneumonia
relationship: disease_has_feature HP:0002098 ! Respiratory distress
relationship: disease_has_feature HP:0002789 ! Tachypnea
relationship: disease_has_feature HP:0002835 ! Aspiration
relationship: excluded_subClassOf MONDO:0005249 {source="DOID:3240", source="https://orcid.org/0000-0001-5208-3432"} ! pneumonia

[Term]
id: MONDO:0002573
name: obsolete pleomorphic rhabdomyosarcoma
is_obsolete: true
replaced_by: MONDO:0017386

[Term]
id: MONDO:0002574
name: prostate embryonal rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features." [NCIT:C5525]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "embryonal rhabdomyosarcoma (disease) of prostate gland" EXACT []
synonym: "embryonal rhabdomyosarcoma of prostate" EXACT [NCIT:C5525]
synonym: "embryonal rhabdomyosarcoma of the prostate" EXACT [DOID:3251, NCIT:C5525]
synonym: "prostate embryonal rhabdomyosarcoma" EXACT [NCIT:C5525]
synonym: "prostate gland embryonal rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:3251 {source="MONDO:equivalentTo"}
xref: MEDGEN:233873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5525 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3251"}
xref: UMLS:C1335508 {source="MEDGEN:233873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006389 {source="DOID:3251", source="MONDO:Redundant", source="NCIT:C5525"} ! prostate rhabdomyosarcoma
is_a: MONDO:0009993 {source="DOID:3251", source="MONDO:Redundant", source="NCIT:C5525"} ! embryonal rhabdomyosarcoma
intersection_of: MONDO:0009993 ! embryonal rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0002575
name: obsolete prostate rhabdomyosarcoma
is_obsolete: true
replaced_by: MONDO:0006389

[Term]
id: MONDO:0002576
name: embryonal extrahepatic bile duct rhabdomyosarcoma
def: "An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "embryonal extrahepatic bile duct rhabdomyosarcoma" EXACT [DOID:3253, NCIT:C5847]
synonym: "embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct" EXACT []
synonym: "embryonal rhabdomyosarcoma of extrahepatic bile duct" EXACT [NCIT:C5847]
synonym: "embryonal rhabdomyosarcoma of the extrahepatic bile duct" EXACT [NCIT:C5847]
synonym: "extrahepatic bile duct embryonal rhabdomyosarcoma" EXACT [NCIT:C5847]
synonym: "extrahepatic bile duct embryonal rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:3253 {source="MONDO:equivalentTo"}
xref: MEDGEN:234244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5847 {source="DOID:3253", source="MONDO:equivalentTo"}
xref: UMLS:C1333505 {source="MEDGEN:234244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002577 {source="DOID:3253", source="MONDO:Redundant", source="NCIT:C5847"} ! extrahepatic bile duct rhabdomyosarcoma
is_a: MONDO:0009993 {source="MONDO:Redundant", source="NCIT:C5847"} ! embryonal rhabdomyosarcoma
is_a: MONDO:0021321 {source="MONDO:Entailed", source="NCIT:C5847/inferred"} ! malignant tumor of extrahepatic bile duct
intersection_of: MONDO:0009993 ! embryonal rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0002577
name: extrahepatic bile duct rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts." [NCIT:C5860]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct rhabdomyosarcoma" RELATED [DOID:3254]
synonym: "bile duct rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "extrahepatic bile duct rhabdomyosarcoma" EXACT [NCIT:C5860]
synonym: "extrahepatic bile duct rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of extrahepatic bile duct" EXACT []
synonym: "rhabdomyosarcoma of extrahepatic bile duct" EXACT [NCIT:C5860]
synonym: "rhabdomyosarcoma of the bile duct" EXACT [DOID:3254, NCIT:C5860]
synonym: "rhabdomyosarcoma of the extrahepatic bile duct" EXACT [NCIT:C5860]
xref: DOID:3254 {source="MONDO:equivalentTo"}
xref: MEDGEN:473530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5860 {source="DOID:3254", source="MONDO:equivalentTo"}
xref: UMLS:C2064434 {source="MEDGEN:473530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002862 {source="DOID:3254", source="MONDO:Entailed", source="MONDO:indirect"} ! bile duct sarcoma
is_a: MONDO:0005212 {source="DOID:3254", source="NCIT:C5860"} ! rhabdomyosarcoma
is_a: MONDO:0024658 {source="MONDO:Redundant", source="NCIT:C5860"} ! extrahepatic bile duct sarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0002578
name: botryoid rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "botryoid sarcoma" EXACT [NCIT:C9150]
synonym: "botryoid sarcoma (morphologic abnormality)" EXACT [DOID:3255]
synonym: "botryoid-type embryonal rhabdomyosarcoma" EXACT [DOID:3255, NCIT:C9150]
synonym: "sarcoma botryoides" EXACT [DOID:3255]
xref: DOID:3255 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:727079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9150 {source="DOID:3255", source="MONDO:equivalentTo"}
xref: SCTID:14269005 {source="DOID:3255"}
xref: SCTID:404052009 {source="DOID:3255", source="MONDO:equivalentTo"}
xref: SCTID:405943005 {source="DOID:3255"}
xref: UMLS:C1306574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:727079"}
is_a: MONDO:0009993 {source="DOID:3255", source="NCIT:C9150"} ! embryonal rhabdomyosarcoma

[Term]
id: MONDO:0002579
name: orbit embryonal rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "embryonal rhabdomyosarcoma of orbit" EXACT [NCIT:C6246]
synonym: "embryonal rhabdomyosarcoma of the orbit" EXACT [DOID:3258, NCIT:C6246]
xref: DOID:3258 {source="MONDO:equivalentTo"}
xref: MEDGEN:233267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6246 {source="DOID:3258", source="MONDO:equivalentTo"}
xref: UMLS:C1335127 {source="MONDO:equivalentTo", source="MEDGEN:233267", source="MONDO:MEDGEN"}
is_a: MONDO:0002580 {source="DOID:3258", source="MONDO:Redundant", source="NCIT:C6246"} ! orbit rhabdomyosarcoma
is_a: MONDO:0009993 {source="MONDO:Redundant", source="NCIT:C6246"} ! embryonal rhabdomyosarcoma
intersection_of: MONDO:0002580 {source="NCIT:C6246"} ! orbit rhabdomyosarcoma
intersection_of: MONDO:0009993 {source="NCIT:C6246"} ! embryonal rhabdomyosarcoma

[Term]
id: MONDO:0002580
name: orbit rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "orbital region rhabdomyosarcoma" EXACT []
synonym: "orbital region rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of orbital region" EXACT []
synonym: "rhabdomyosarcoma of orbit" EXACT [NCIT:C4543]
synonym: "rhabdomyosarcoma of the orbit" EXACT [DOID:3259, NCIT:C4543]
xref: DOID:3259 {source="MONDO:equivalentTo"}
xref: MEDGEN:83419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537605 {source="MONDO:equivalentTo", source="DOID:3259"}
xref: NCIT:C4543 {source="MONDO:equivalentTo", source="DOID:3259"}
xref: SCTID:254994000 {source="MONDO:equivalentTo", source="DOID:3259"}
xref: UMLS:C0346347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83419"}
is_a: MONDO:0004943 {source="DOID:3259", source="NCIT:C4543"} ! orbit sarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0004088 ! orbital region

[Term]
id: MONDO:0002581
name: spindle cell rhabdomyosarcoma
def: "An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck." [NCIT:C6519]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SCRMS" RELATED ABBREVIATION [ONCOTREE:SCRMS]
synonym: "spindle cell rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:3260]
xref: DOID:3260 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8912/3 {source="NCIT:C6519"}
xref: MEDGEN:224766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6519 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3260"}
xref: ONCOTREE:SCRMS {source="MONDO:equivalentTo"}
xref: SCTID:128749008 {source="DOID:3260"}
xref: SCTID:404055006 {source="MONDO:equivalentTo", source="DOID:3260"}
xref: UMLS:C1266134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224766"}
is_a: MONDO:0005212 {source="DOID:3260/inferred", source="NCIT:C6519/inferred", source="ONCOTREE:SCRMS"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell
relationship: excluded_subClassOf MONDO:0009993 {source="DOID:3260", source="https://orcid.org/0000-0001-5208-3432"} ! embryonal rhabdomyosarcoma

[Term]
id: MONDO:0002582
name: subacute leukemia
def: "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity." [DOID:3264, http://www.wrongdiagnosis.com/medical/subacute.htm]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:3264 {source="MONDO:equivalentTo"}
xref: ICD9:208.2 {source="DOID:3264"}
xref: ICD9:208.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154601003 {source="DOID:3264"}
xref: SCTID:188765000 {source="DOID:3264"}
xref: SCTID:190026006 {source="DOID:3264"}
xref: SCTID:302855005 {source="DOID:3264", source="MONDO:equivalentTo"}
xref: SCTID:49432002 {source="DOID:3264"}
xref: SCTID:95272003 {source="DOID:3264"}
xref: UMLS:C0153924 {source="MEDGEN:509481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005059 {source="DOID:3264"} ! leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0002583
name: mucinous ovarian cystadenoma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells." [NCIT:C4512]
synonym: "benign mucinous cystadenoma of ovary" EXACT [NCIT:C4512]
synonym: "benign mucinous cystadenoma of the ovary" EXACT [NCIT:C4512]
synonym: "benign ovarian mucinous cystadenoma" EXACT [NCIT:C4512]
synonym: "mucinous cystadenoma of ovary" EXACT [NCIT:C4512]
synonym: "mucinous cystadenoma of the ovary" EXACT [NCIT:C4512]
synonym: "ovarian mucinous cystadenoma" EXACT [DOID:3267, NCIT:C4512]
synonym: "ovary mucinous cystadenoma" EXACT [MONDO:patterns/location]
xref: DOID:3267 {source="MONDO:equivalentTo"}
xref: MEDGEN:91088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4512 {source="DOID:3267", source="MONDO:equivalentTo"}
xref: SCTID:119422004 {source="DOID:3267", source="MONDO:equivalentTo"}
xref: UMLS:C0346172 {source="MEDGEN:91088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005183 {source="DOID:3267", source="MONDO:Redundant", source="NCIT:C4512"} ! ovarian cystadenoma
is_a: MONDO:0006859 {source="MONDO:Redundant", source="NCIT:C4512"} ! mucinous cystadenoma
intersection_of: MONDO:0006859 ! mucinous cystadenoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0002584
name: obsolete syringomyelia
is_obsolete: true
replaced_by: MONDO:0017987

[Term]
id: MONDO:0002585
name: breast fibrocystic change, proliferative type
def: "Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent." [NCIT:C6940]
synonym: "benign proliferative breast disease" EXACT [NCIT:C6940]
synonym: "breast fibrocystic change, proliferative type" EXACT [NCIT:C6940]
synonym: "fibrocystic change, proliferative type with atypia" EXACT [DOID:3274]
synonym: "fibrocystic disease, proliferative type with atypia" EXACT [DOID:3274]
synonym: "proliferating lesion of breast without atypia" EXACT [DOID:3274]
synonym: "proliferating lesion of the breast without atypia" EXACT [DOID:3274]
synonym: "proliferative breast disease" EXACT [NCIT:C6940]
synonym: "proliferative breast lesion" EXACT [NCIT:C6940]
synonym: "proliferative fibrocystic change" BROAD [DOID:3274, NCIT:C6940]
synonym: "proliferative type fibrocystic change of breast" EXACT [NCIT:C6940]
synonym: "proliferative type fibrocystic change of the breast" EXACT [NCIT:C6940]
xref: DOID:3274 {source="MONDO:equivalentTo"}
xref: MEDGEN:231967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6940 {source="MONDO:equivalentTo"}
xref: NCIT:C8365 {source="DOID:3274"}
xref: SCTID:35813005 {source="DOID:3274"}
xref: UMLS:C1332629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231967"}
is_a: MONDO:0005219 {source="DOID:3274", source="NCIT:C6940"} ! breast fibrocystic disease

[Term]
id: MONDO:0002586
name: thymus cancer
def: "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites." [NCIT:C4962]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of the Thymus" EXACT [NCIT:C4962]
synonym: "cancer of Thymus" EXACT [NCIT:C4962]
synonym: "cancer of thymus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the Thymus" EXACT [NCIT:C4962]
synonym: "malignant neoplasm of Thymus" EXACT [NCIT:C4962]
synonym: "malignant neoplasm of thymus" EXACT [MONDO:patterns/cancer]
synonym: "malignant Thymus neoplasm" EXACT [NCIT:C4962]
synonym: "malignant thymus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Thymus tumor" EXACT [NCIT:C4962]
synonym: "malignant Thymus tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of the Thymus" EXACT [NCIT:C4962]
synonym: "malignant tumor of Thymus" EXACT [NCIT:C4962]
synonym: "malignant tumour of the Thymus" EXACT OMO:0003005 []
synonym: "malignant tumour of Thymus" EXACT OMO:0003005 []
synonym: "neoplasm of thymus" RELATED EXCLUDE [DOID:3277]
synonym: "thymic neoplasm" BROAD [DOID:3277]
synonym: "thymic tumor" BROAD [DOID:3277, NCIT:C3412]
synonym: "thymic tumour" BROAD OMO:0003005 []
synonym: "Thymus cancer" EXACT [NCIT:C4962]
synonym: "thymus cancer" EXACT [MONDO:patterns/location]
xref: DOID:3277 {source="MONDO:equivalentTo"}
xref: ICD10CM:C37 {source="DOID:3277"}
xref: ICD9:164.0 {source="DOID:3277", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:155883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013953 {source="DOID:3277"}
xref: NCIT:C4962 {source="DOID:3277", source="MONDO:equivalentTo"}
xref: SCTID:363434003 {source="DOID:3277", source="MONDO:equivalentTo"}
xref: SCTID:94096009 {source="DOID:3277"}
xref: UMLS:C0751552 {source="MEDGEN:155883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005197 {source="MONDO:Redundant", source="NCIT:C4962"} ! thymus neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0002587
name: encapsulated thymoma
def: "A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics." [NCIT:C7386]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "encapsulated thymoma" EXACT [NCIT:C7386]
xref: DOID:3278 {source="MONDO:equivalentTo"}
xref: MEDGEN:232452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7386 {source="DOID:3278", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333383 {source="MEDGEN:232452", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006456 {source="DOID:3278", source="NCIT:C7386"} ! thymoma

[Term]
id: MONDO:0002588
name: thymoma type A
def: "A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years." [NCIT:C6454]
subset: gard_rare {source="GARD:20892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:263310"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:263310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "medullary thymoma" EXACT [DOID:3279, NCIT:C6454]
synonym: "primary thymic epithelial neoplasm type A" EXACT [Orphanet:263310]
synonym: "primary thymic epithelial tumor type A" EXACT [Orphanet:263310]
synonym: "primary thymic epithelial tumour type A" EXACT OMO:0003005 []
synonym: "spindle cell thymoma" EXACT [NCIT:C6454]
synonym: "thymoma type A" EXACT [MONDO:0016973, NCIT:C6454]
synonym: "thymoma, medullary" EXACT [DOID:3279]
xref: DOID:3279 {source="MONDO:equivalentTo"}
xref: GARD:20892 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:263310/ntbt", source="Orphanet:263310"}
xref: ICD10CM:D15.0 {source="Orphanet:263310/ntbt", source="MONDO:relatedTo", source="Orphanet:263310"}
xref: ICDO:8581/1 {source="NCIT:C6454"}
xref: MEDGEN:266099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6454 {source="DOID:3279", source="MONDO:equivalentTo"}
xref: Orphanet:263310 {source="MONDO:equivalentTo"}
xref: SCTID:128707003 {source="DOID:3279"}
xref: UMLS:C1266091 {source="MEDGEN:266099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006456 {source="DOID:3279", source="NCIT:C6454", source="Orphanet:263310"} ! thymoma

[Term]
id: MONDO:0002589
name: obsolete thymoma type AB
is_obsolete: true
replaced_by: MONDO:0016975

[Term]
id: MONDO:0002590
name: combined thymoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:3281 {source="MONDO:equivalentTo"}
xref: MEDGEN:317530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1707449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:317530"}
is_a: MONDO:0006456 {source="DOID:3281"} ! thymoma

[Term]
id: MONDO:0002591
name: obsolete dendritic cell thymoma
is_obsolete: true
replaced_by: MONDO:0016974

[Term]
id: MONDO:0002592
name: invasive malignant thymoma
def: "A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues." [NCIT:C7904]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating thymoma" EXACT [DOID:3283, NCIT:C6453]
synonym: "invasive malignant thymoma" EXACT [NCIT:C7904]
synonym: "malignant thymoma, invasive" EXACT [NCIT:C7904]
synonym: "thymoma malignant invasive" EXACT [DOID:3283, NCIT:C7904]
xref: DOID:3283 {source="MONDO:equivalentTo"}
xref: MEDGEN:78892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6453 {source="DOID:3283"}
xref: NCIT:C7904 {source="MONDO:equivalentTo", source="DOID:3283"}
xref: UMLS:C0278846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78892"}
is_a: MONDO:0006456 {source="DOID:3283", source="MONDO:Redundant", source="NCIT:C7904/inferred"} ! thymoma
intersection_of: MONDO:0006456 ! thymoma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0002593
name: obsolete thymic carcinoma
is_obsolete: true
replaced_by: MONDO:0020515

[Term]
id: MONDO:0002594
name: monkeypox
def: "An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks." [NCIT:C128421]
synonym: "infections, Monkeypox virus" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Monkeypox virus infection" EXACT [GARD:0010722, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:3292 {source="MONDO:equivalentTo"}
xref: ICD10CM:B04 {source="MONDO:equivalentTo", source="DOID:3292"}
xref: ICD9:059.01 {source="DOID:3292"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:124442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045908 {source="MONDO:equivalentTo", source="DOID:3292"}
xref: NCIT:C128421 {source="MONDO:equivalentTo"}
xref: SCTID:186582008 {source="DOID:3292"}
xref: SCTID:240466002 {source="DOID:3292"}
xref: SCTID:25157001 {source="DOID:3292"}
xref: SCTID:359811007 {source="DOID:3292"}
xref: SCTID:359814004 {source="MONDO:equivalentTo", source="DOID:3292"}
xref: UMLS:C0276180 {source="MEDGEN:124442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:3292", source="MESH:D045908/inferred", source="MONDO:Redundant", source="NCIT:C128421"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10244 ! disease has primary infectious agent Monkeypox virus
relationship: disease_has_infectious_agent NCBITaxon:10244 ! Monkeypox virus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10722/monkeypox" xsd:anyURI {source="GARD:0010722"}

[Term]
id: MONDO:0002595
name: vaccinia
def: "The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine." [MESH:D014615]
xref: DOID:3298 {source="MONDO:equivalentTo"}
xref: ICD9:999.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:52964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014615 {source="DOID:3298", source="MONDO:equivalentTo"}
xref: SCTID:111852003 {source="DOID:3298", source="MONDO:equivalentTo"}
xref: UMLS:C0042214 {source="MEDGEN:52964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:3298", source="MESH:D014615/inferred"} ! viral infectious disease
relationship: disease_has_infectious_agent NCBITaxon:10245 ! Vaccinia virus

[Term]
id: MONDO:0002596
name: obsolete chordoma
is_obsolete: true
replaced_by: MONDO:0008978

[Term]
id: MONDO:0002597
name: notochordal tumor
def: "A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor." [NCIT:C7063]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of notochord" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of notochord" EXACT [MONDO:patterns/cancer]
synonym: "malignant notochord neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of notochord" EXACT [MONDO:patterns/neoplasm]
synonym: "notochord cancer" EXACT [MONDO:patterns/location]
synonym: "notochord neoplasm" EXACT []
synonym: "notochord tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "notochord tumour" EXACT OMO:0003005 []
synonym: "notochordal cancer" RELATED [DOID:3303]
synonym: "notochordal neoplasm" EXACT [NCIT:C7063]
synonym: "notochordal tumor" EXACT [DOID:3303, NCIT:C7063]
synonym: "tumor of notochord" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of notochord" EXACT OMO:0003005 []
xref: DOID:3303 {source="MONDO:equivalentTo"}
xref: MEDGEN:233252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7063 {source="MONDO:equivalentTo", source="DOID:3303"}
xref: UMLS:C1335069 {source="MEDGEN:233252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005564 {source="NCIT:C7063"} ! embryonal neoplasm
is_a: MONDO:0019060 {source="NCIT:C7063"} ! bone neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002328 ! notochord
relationship: excluded_subClassOf MONDO:0002129 {source="DOID:3303", source="https://orcid.org/0000-0001-5208-3432"} ! bone cancer

[Term]
id: MONDO:0002598
name: germinoma
def: "A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "germinoma" EXACT [MONDO:ambiguous, NCIT:C3753]
synonym: "germinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:3304 {source="MONDO:equivalentTo"}
xref: HP:0100620 {source="MONDO:otherHierarchy"}
xref: ICDO:9064/3 {source="NCIT:C3753"}
xref: MEDGEN:64626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018237 {source="DOID:3304", source="MONDO:equivalentTo"}
xref: NCIT:C3753 {source="MONDO:equivalentObsolete", source="DOID:3304"}
xref: ONCOTREE:GMN {source="MONDO:equivalentTo"}
xref: SCTID:154603000 {source="DOID:3304"}
xref: SCTID:28307001 {source="DOID:3304"}
xref: UMLS:C0206660 {source="MEDGEN:64626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005040 {source="DOID:3304", source="MONDO:Redundant", source="NCIT:C3753/inferred"} ! germ cell tumor
is_a: MONDO:0006290 {source="NCIT:C3753"} ! malignant germ cell tumor
property_value: IAO:0000589 "germinoma (disease)" xsd:string

[Term]
id: MONDO:0002599
name: teratocarcinoma
def: "A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mixed embryonal carcinoma and teratoma" EXACT [DOID:3305, NCIT:C3756]
synonym: "teratocarcinoma" EXACT [NCIT:C3756]
synonym: "teratocarcinoma (morphologic abnormality)" EXACT [DOID:3305]
xref: DOID:3305 {source="MONDO:equivalentTo"}
xref: ICDO:9081/3 {source="NCIT:C3756"}
xref: MEDGEN:104913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018243 {source="MONDO:equivalentTo", source="DOID:3305"}
xref: NCIT:C3756 {source="MONDO:equivalentTo", source="DOID:3305"}
xref: SCTID:67830002 {source="DOID:3305"}
xref: UMLS:C0206664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104913"}
is_a: MONDO:0015864 {source="DOID:3305", source="NCIT:C3756"} ! mixed germ cell tumor
relationship: excluded_subClassOf MONDO:0002510 {source="DOID:3305", source="MESH:D018243", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete germ cell and embryonal cancer

[Term]
id: MONDO:0002600
name: obsolete mixed germ cell cancer
is_obsolete: true
replaced_by: MONDO:0015864

[Term]
id: MONDO:0002601
name: teratoma
def: "A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." [NCIT:C3403]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "teratoma" EXACT [NCIT:C3403]
xref: DOID:3307 {source="MONDO:equivalentTo"}
xref: ICDO:9080/1 {source="NCIT:C3403"}
xref: MEDGEN:21097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013724 {source="MONDO:equivalentTo", source="DOID:3307"}
xref: NCIT:C3403 {source="MONDO:equivalentTo", source="DOID:3307"}
xref: NCIT:C3877 {source="ONCOTREE:TT"}
xref: ONCOTREE:TT {source="MONDO:equivalentTo"}
xref: SCTID:189844009 {source="DOID:3307"}
xref: SCTID:189846006 {source="DOID:3307"}
xref: SCTID:189848007 {source="DOID:3307"}
xref: SCTID:36591000119102 {source="MONDO:equivalentTo"}
xref: SCTID:55818009 {source="DOID:3307"}
xref: UMLS:C0039538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21097"}
is_a: MONDO:0021656 {source="NCIT:C3403", source="ONCOTREE:TT"} ! nongerminomatous germ cell tumor
relationship: excluded_subClassOf MONDO:0002510 {source="DOID:3307", source="MESH:D013724", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete germ cell and embryonal cancer
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare

[Term]
id: MONDO:0002602
name: central nervous system disorder
def: "A disease involving the central nervous system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "central nervous disease" EXACT [DOID:331]
synonym: "central nervous system disease" EXACT [MONDO:patterns/location, NCIT:C2934]
synonym: "central nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "central nervous system disorder" EXACT [NCIT:C2934]
synonym: "CNS disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "disease of central nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease of the central nervous system" EXACT [ISBN-13:978-1-259-64403-0]
synonym: "disease or disorder of central nervous system" EXACT []
synonym: "disorder of central nervous system" EXACT [MONDO:patterns/location_top, NCIT:C2934]
xref: DOID:331 {source="MONDO:equivalentTo"}
xref: EFO:0009386 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G96.9 {source="DOID:331"}
xref: MEDGEN:892343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002493 {source="MONDO:equivalentTo", source="DOID:331"}
xref: NCIT:C2934 {source="MONDO:equivalentTo", source="DOID:331"}
xref: SCTID:138748005 {source="DOID:331"}
xref: SCTID:154981003 {source="DOID:331"}
xref: SCTID:155049004 {source="DOID:331"}
xref: SCTID:155059003 {source="DOID:331"}
xref: SCTID:192641002 {source="DOID:331"}
xref: SCTID:193076009 {source="DOID:331"}
xref: SCTID:194566008 {source="DOID:331"}
xref: SCTID:23853001 {source="MONDO:equivalentTo", source="DOID:331"}
xref: SCTID:267144009 {source="DOID:331"}
xref: SCTID:267679005 {source="DOID:331"}
xref: SCTID:267700003 {source="DOID:331"}
xref: SCTID:267702006 {source="DOID:331"}
xref: SCTID:275539005 {source="DOID:331"}
xref: UMLS:C4021765 {source="MONDO:equivalentTo", source="MEDGEN:892343", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="DOID:331", source="MESH:D002493", source="MONDO:Redundant", source="NCIT:C2934"} ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0002603
name: angiomyolipoma
def: "A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described." [NCIT:P378]
subset: gard_rare {source="GARD:12024", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiomyolipoma (morphologic abnormality)" EXACT [DOID:3314]
xref: DOID:3314 {source="MONDO:equivalentTo"}
xref: GARD:12024 {source="MONDO:GARD"}
xref: ICDO:8860/0 {source="NCIT:C3734"}
xref: MEDGEN:64622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018207 {source="MONDO:equivalentTo", source="DOID:3314"}
xref: NCIT:C3734 {source="MONDO:equivalentTo", source="DOID:3314"}
xref: SCTID:19929002 {source="DOID:3314"}
xref: UMLS:C0206633 {source="MEDGEN:64622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006359 {source="MESH:D018207", source="NCIT:C3734"} ! neoplasm with perivascular epithelioid cell differentiation

[Term]
id: MONDO:0002604
name: pericytic neoplasm
def: "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." [NCIT:C6528]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant perivascular cancer" NARROW [DOID:3316]
synonym: "Pericytic neoplasm" EXACT [NCIT:C6528]
synonym: "Pericytic tumor" EXACT [NCIT:C6528]
synonym: "Pericytic tumour" EXACT OMO:0003005 []
synonym: "perivascular neoplasm" EXACT [NCIT:C6528]
synonym: "perivascular tumor" EXACT [NCIT:C6528]
synonym: "perivascular tumour" EXACT OMO:0003005 []
xref: DOID:3316 {source="MONDO:equivalentTo"}
xref: MEDGEN:235473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6528 {source="MONDO:equivalentTo", source="DOID:3316"}
xref: NCIT:C6530 {source="DOID:3316"}
xref: UMLS:C1335392 {source="MEDGEN:235473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C6528"} ! mesenchymal cell neoplasm
intersection_of: MONDO:0002616 {source="NCIT:C6528"} ! mesenchymal cell neoplasm
intersection_of: disease_arises_from_structure CL:0000669 {source="NCIT:C6528"} ! pericyte

[Term]
id: MONDO:0002605
name: hepatic angiomyolipoma
def: "An angiomyolipoma arising from the liver." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "liver angiomyolipoma" EXACT [NCIT:C27485]
synonym: "liver PEComa" EXACT [NCIT:C27485]
xref: DOID:3317 {source="MONDO:equivalentTo"}
xref: MEDGEN:272705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27485 {source="MONDO:equivalentTo", source="DOID:3317"}
xref: UMLS:C1333962 {source="MEDGEN:272705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002603 {source="MONDO:Redundant", source="NCIT:C27485"} ! angiomyolipoma
is_a: MONDO:0024477 {source="DOID:3317", source="MONDO:Redundant"} ! liver and intrahepatic bile duct neoplasm
intersection_of: MONDO:0002603 ! angiomyolipoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0002606
name: epithelioid type angiomyolipoma
def: "An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:3318 {source="MONDO:equivalentTo"}
xref: MEDGEN:1386340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38151 {source="MONDO:equivalentTo", source="DOID:3318"}
xref: UMLS:C4518194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386340"}
is_a: MONDO:0002603 {source="DOID:3318", source="NCIT:C38151"} ! angiomyolipoma

[Term]
id: MONDO:0002607
name: obsolete lymphangioleiomyomatosis
is_obsolete: true
replaced_by: MONDO:0011705

[Term]
id: MONDO:0002608
name: obsolete gangliosidosis GM2
is_obsolete: true
replaced_by: MONDO:0017720

[Term]
id: MONDO:0002609
name: obsolete gangliosidosis GM1
is_obsolete: true
replaced_by: MONDO:0018149

[Term]
id: MONDO:0002610
name: purpura
def: "A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "purpura" EXACT [MONDO:ambiguous]
synonym: "purpura (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "purpuric disorder" EXACT [DOID:3326]
xref: DOID:3326 {source="MONDO:equivalentTo"}
xref: HP:0000979 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D69.2 {source="DOID:3326"}
xref: MEDGEN:19584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011693 {source="DOID:3326", source="MONDO:equivalentTo"}
xref: NCIT:C78787 {source="DOID:3326", source="MONDO:otherHierarchy"}
xref: SCTID:118653003 {source="DOID:3326"}
xref: SCTID:12393003 {source="DOID:3326"}
xref: SCTID:154822006 {source="DOID:3326"}
xref: SCTID:191313005 {source="DOID:3326"}
xref: SCTID:246989006 {source="DOID:3326"}
xref: SCTID:267564008 {source="DOID:3326"}
xref: SCTID:387778001 {source="DOID:3326", source="MONDO:equivalentTo"}
xref: SCTID:423902002 {source="DOID:3326"}
xref: UMLS:C0034150 {source="MEDGEN:19584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002243 {source="DOID:3326"} ! hemorrhagic disease
property_value: IAO:0000589 "purpura (disease)" xsd:string

[Term]
id: MONDO:0002611
name: obsolete benign epilepsy with centrotemporal spikes
is_obsolete: true
replaced_by: MONDO:0007295

[Term]
id: MONDO:0002612
name: frontal lobe epilepsy
def: "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" [MESH:D017034]
subset: otar {source="MONDO:OTAR"}
synonym: "epilepsy of frontal lobe" EXACT [MONDO:design_pattern]
synonym: "frontal lobe epilepsy" EXACT [MONDO:patterns/location]
xref: DOID:3331 {source="MONDO:equivalentTo"}
xref: MEDGEN:39074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017034 {source="DOID:3331", source="MONDO:equivalentTo"}
xref: SCTID:230394006 {source="DOID:3331", source="MONDO:equivalentTo"}
xref: UMLS:C0085541 {source="MEDGEN:39074", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005384 {source="DOID:3331", source="MESH:D017034"} ! focal epilepsy
intersection_of: MONDO:0005027 ! epilepsy
intersection_of: disease_has_location UBERON:0016525 ! frontal lobe

[Term]
id: MONDO:0002613
name: histrionic personality disorder
def: "A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior." [NCIT:P378]
synonym: "histrionic personality disorder" EXACT [MONDO:ambiguous]
synonym: "histrionic personality disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:334 {source="MONDO:equivalentTo"}
xref: HP:0012077 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F60.4 {source="MONDO:equivalentTo", source="DOID:334"}
xref: ICD9:301.5 {source="DOID:334"}
xref: ICD9:301.50 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:334"}
xref: ICD9:301.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006677 {source="MONDO:equivalentTo", source="DOID:334"}
xref: NCIT:C92634 {source="MONDO:equivalentTo", source="DOID:334"}
xref: SCTID:154900000 {source="DOID:334"}
xref: SCTID:191764009 {source="DOID:334"}
xref: SCTID:191767002 {source="DOID:334"}
xref: SCTID:192489002 {source="DOID:334"}
xref: SCTID:268758001 {source="DOID:334"}
xref: SCTID:55341008 {source="MONDO:equivalentTo", source="DOID:334"}
xref: UMLS:C0019681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9276"}
is_a: MONDO:0002028 {source="DOID:334", source="NCIT:C92634"} ! personality disorder
property_value: IAO:0000589 "histrionic personality disorder (disease)" xsd:string

[Term]
id: MONDO:0002614
name: bone inflammation disease
def: "Inflammation of the bone." [MESH:D010000]
subset: otar {source="MONDO:OTAR"}
synonym: "bone inflammatory disease" EXACT [DOID:3342]
synonym: "inflammatory disorder of bone" EXACT [DOID:3342]
synonym: "osteitis" EXACT [DOID:3342]
xref: DOID:3342 {source="MONDO:equivalentTo"}
xref: MEDGEN:10492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010000 {source="DOID:3342", source="MONDO:equivalentTo"}
xref: SCTID:156780005 {source="DOID:3342"}
xref: SCTID:274144001 {source="DOID:3342", source="MONDO:equivalentTo"}
xref: SCTID:363172002 {source="DOID:3342"}
xref: SCTID:44462005 {source="DOID:3342"}
xref: UMLS:C0029400 {source="MEDGEN:10492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 {source="DOID:3342", source="MESH:D010000"} ! bone disorder

[Term]
id: MONDO:0002615
name: xanthomatosis
def: "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells." [MESH:D014973]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "xanthelasmatosis" EXACT [DOID:3345]
synonym: "xanthomatosis" EXACT [MONDO:ambiguous]
synonym: "xanthomatosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:3345 {source="MONDO:equivalentTo"}
xref: HP:0000991 {source="MONDO:otherHierarchy"}
xref: MEDGEN:21939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014973 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:3345", source="MONDO:equivalentTo"}
xref: SCTID:63103006 {source="DOID:3345", source="MONDO:equivalentTo"}
xref: UMLS:C0043325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21939"}
is_a: MONDO:0019245 {source="DOID:3345"} ! lysosomal lipid storage disorder
relationship: disease_has_feature HP:0001114 {source="MONDO:Wikidata"} ! Xanthelasma
relationship: disease_has_feature MONDO:0005236 {source="MONDO:Wikidata"} ! xanthoma
property_value: IAO:0000589 "xanthomatosis (disease)" xsd:string

[Term]
id: MONDO:0002616
name: mesenchymal cell neoplasm
def: "A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma." [NCIT:C7059]
subset: otar {source="MONDO:OTAR"}
synonym: "benign miscellaneous mesenchymal tumor" EXACT [DOID:3350]
synonym: "benign miscellaneous mesenchymal tumour" EXACT OMO:0003005 []
synonym: "mesenchymal cell neoplasm" EXACT [NCIT:C7059]
synonym: "mesenchymal cell tumor" EXACT [NCIT:C7059]
synonym: "mesenchymal cell tumour" EXACT OMO:0003005 []
synonym: "mesenchymal neoplasm" EXACT [NCIT:C7059]
synonym: "mesenchymal tumor" EXACT [DOID:3350, NCIT:C7059]
synonym: "mesenchymal tumour" EXACT OMO:0003005 []
xref: DOID:3350 {source="MONDO:equivalentTo"}
xref: MEDGEN:277359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6587 {source="DOID:3350"}
xref: NCIT:C7059 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3350"}
xref: UMLS:C1334699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277359"}
is_a: MONDO:0005070 {source="DOID:3350/inferred", source="MONDO:Redundant", source="NCIT:C7059/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0008019 ! mesenchymal cell

[Term]
id: MONDO:0002617
name: bone angiosarcoma
def: "A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation." [NCIT:C6479]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiosarcoma (disease) of bone tissue" EXACT []
synonym: "bone angioendothelial sarcoma" EXACT [NCIT:C6479]
synonym: "bone angiosarcoma" EXACT [NCIT:C6479]
synonym: "bone Hemangioendothelial sarcoma" EXACT [NCIT:C6479]
synonym: "bone hemangiosarcoma" EXACT [NCIT:C6479]
synonym: "bone tissue angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osseous angioendothelial sarcoma" EXACT [NCIT:C6479]
synonym: "osseous angiosarcoma" EXACT [NCIT:C6479]
synonym: "osseous hemangiosarcoma" EXACT [DOID:3351, NCIT:C6479]
xref: DOID:3351 {source="MONDO:equivalentTo"}
xref: MEDGEN:231448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6479 {source="MONDO:equivalentTo", source="DOID:3351"}
xref: UMLS:C1332574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231448"}
is_a: MONDO:0016982 {source="MONDO:Redundant", source="NCIT:C6479"} ! angiosarcoma
is_a: MONDO:0021054 {source="NCIT:C6479"} ! bone sarcoma
is_a: MONDO:0024499 {source="MONDO:Redundant", source="NCIT:C6479"} ! vascular bone neoplasm
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3351", source="https://orcid.org/0000-0001-5208-3432"} ! osteosarcoma

[Term]
id: MONDO:0002618
name: undifferentiated high grade pleomorphic sarcoma of bone
def: "A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs." [NCIT:C8563]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant bone fibrous histiocytoma" EXACT [NCIT:C8563]
synonym: "malignant fibrous histiocytoma of bone" EXACT [NCIT:C8563]
synonym: "malignant fibrous histiocytoma of the bone" EXACT [DOID:3352, NCIT:C8563]
synonym: "undifferentiated high grade pleomorphic sarcoma" EXACT [NCIT:C8563]
synonym: "undifferentiated high grade pleomorphic sarcoma of bone" EXACT [NCIT:C8563]
synonym: "undifferentiated high-grade pleomorphic sarcoma" EXACT [NCIT:C8563]
xref: DOID:3352 {source="MONDO:equivalentTo"}
xref: MEDGEN:149264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8563 {source="DOID:3352", source="MONDO:equivalentTo"}
xref: UMLS:C0740479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:149264"}
is_a: MONDO:0021054 {source="NCIT:C8563"} ! bone sarcoma
relationship: excluded_subClassOf MONDO:0002142 {source="DOID:3352", source="https://orcid.org/0000-0001-5208-3432"} ! undifferentiated pleomorphic sarcoma
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3352", source="https://orcid.org/0000-0001-5208-3432"} ! osteosarcoma

[Term]
id: MONDO:0002619
name: bone fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C6604]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone fibrosarcoma" EXACT [NCIT:C6604]
synonym: "bone tissue fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "fibrosarcoma of bone" EXACT [NCIT:C6604]
synonym: "fibrosarcoma of the bone" EXACT [DOID:3354, NCIT:C6604]
xref: DOID:3354 {source="MONDO:equivalentTo"}
xref: MEDGEN:404782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6604 {source="MONDO:equivalentTo"}
xref: UMLS:C2733623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:404782"}
is_a: MONDO:0005164 {source="MONDO:Redundant", source="NCIT:C6604"} ! fibrosarcoma
is_a: MONDO:0021054 {source="MONDO:Redundant", source="NCIT:C6604"} ! bone sarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3354", source="https://orcid.org/0000-0001-5208-3432"} ! osteosarcoma

[Term]
id: MONDO:0002620
name: localized osteosarcoma
def: "A non-disseminated osteosarcoma." [NCIT:C7780]
synonym: "localised osteogenic sarcoma" EXACT OMO:0003005 []
synonym: "localized osteogenic sarcoma" EXACT [DOID:3356, NCIT:C7780]
synonym: "localized osteosarcoma" EXACT [NCIT:C7780]
synonym: "osteosarcoma, localised" EXACT OMO:0003005 []
synonym: "osteosarcoma, localized" EXACT [NCIT:C7780]
xref: DOID:3356 {source="MONDO:equivalentTo"}
xref: MEDGEN:124467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7780 {source="DOID:3356", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0278511 {source="MEDGEN:124467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009807 {source="DOID:3356", source="NCIT:C7780"} ! osteosarcoma

[Term]
id: MONDO:0002621
name: extraosseous osteosarcoma
def: "An osteosarcoma arising from the soft tissue." [NCIT:C8810]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "extraosseous osteosarcoma" EXACT [NCIT:C8810]
synonym: "extraskeletal osteogenic sarcoma" EXACT [DOID:3357, NCIT:C8810]
synonym: "extraskeletal osteosarcoma" EXACT [NCIT:C8810]
synonym: "osteosarcoma, extraskeletal, malignant" EXACT [NCIT:C8810]
synonym: "soft tissue osteosarcoma" EXACT [NCIT:C8810]
xref: DOID:3357 {source="MONDO:equivalentTo"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8810 {source="DOID:3357", source="MONDO:equivalentTo"}
xref: SCTID:404077005 {source="DOID:3357", source="MONDO:equivalentTo"}
xref: UMLS:C0855052 {source="MONDO:equivalentTo", source="MEDGEN:163186", source="MONDO:MEDGEN"}
is_a: MONDO:0009807 {source="DOID:3357", source="NCIT:C8810"} ! osteosarcoma
is_a: MONDO:0018078 {source="NCIT:C8810"} ! soft tissue sarcoma

[Term]
id: MONDO:0002622
name: multifocal osteogenic sarcoma
def: "A primary bone osteosarcoma affecting multiple bone sites." [NCIT:C6470]
synonym: "multicentric osteosarcoma" EXACT [NCIT:C6470]
synonym: "multifocal osteosarcoma" EXACT [NCIT:C6470]
xref: DOID:3360 {source="MONDO:equivalentTo"}
xref: MEDGEN:233199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6470 {source="MONDO:equivalentTo", source="DOID:3360"}
xref: SCTID:431371000124105 {source="DOID:3360"}
xref: UMLS:C1334820 {source="MEDGEN:233199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009807 {source="DOID:3360", source="NCIT:C6470/inferred"} ! osteosarcoma

[Term]
id: MONDO:0002623
name: pediatric osteosarcoma
def: "An osteosarcoma occurring in childhood." [NCIT:P378]
synonym: "childhood osteogenic sarcoma" EXACT [NCIT:C6585]
synonym: "childhood osteosarcoma" EXACT [NCIT:C6585]
synonym: "childhood osteosarcoma (disease)" EXACT []
synonym: "osteosarcoma" BROAD [NCIT:C6585]
synonym: "osteosarcoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "paediatric osteosarcoma (disease)" EXACT OMO:0003005 []
synonym: "pediatric osteosarcoma" EXACT [NCIT:C6585]
synonym: "pediatric osteosarcoma (disease)" EXACT [MONDO:patterns/childhood]
xref: DOID:3361 {source="MONDO:equivalentTo"}
xref: MEDGEN:272464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200048 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6585 {source="MONDO:equivalentTo", source="DOID:3361"}
xref: UMLS:C1332986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272464"}
is_a: MONDO:0006517 {source="MONDO:Redundant", source="NCIT:C6585"} ! childhood malignant neoplasm
is_a: MONDO:0009807 {source="DOID:3361", source="MONDO:Redundant", source="NCIT:C6585"} ! osteosarcoma
intersection_of: MONDO:0009807 ! osteosarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0002624
name: bone leiomyosarcoma
def: "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C7154]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bone leiomyosarcoma" EXACT [NCIT:C7154]
synonym: "bone tissue leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "leiomyosarcoma of bone" EXACT [NCIT:C7154]
synonym: "leiomyosarcoma of bone tissue" EXACT [MONDO:design_pattern]
xref: DOID:3367 {source="MONDO:equivalentTo"}
xref: MEDGEN:234043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7154 {source="DOID:3367", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332579 {source="MEDGEN:234043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021054 {source="NCIT:C7154"} ! bone sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3367", source="https://orcid.org/0000-0001-5208-3432"} ! osteosarcoma

[Term]
id: MONDO:0002625
name: Ewing sarcoma of bone
def: "A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor." [NCIT:C4835]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bone Ewing sarcoma" EXACT [DOID:3368]
synonym: "bone Ewing's sarcoma" EXACT [DOID:3368, NCIT:C4835]
synonym: "bone localised Ewing sarcoma" EXACT OMO:0003005 []
synonym: "bone localised Ewing's sarcoma" EXACT OMO:0003005 []
synonym: "bone localized Ewing sarcoma" EXACT [DOID:3368]
synonym: "bone localized Ewing's sarcoma" EXACT [DOID:3368]
synonym: "bone tissue Ewing sarcoma" EXACT [MONDO:patterns/location]
synonym: "Ewing sarcoma of bone" EXACT [NCIT:C4835]
synonym: "Ewing's sarcoma of bone" EXACT [DOID:3368, NCIT:C4835]
synonym: "Ewing's sarcoma, osseous" EXACT [NCIT:C4835]
synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor" EXACT [DOID:3368]
synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "localised skeletal Ewing's sarcoma" EXACT OMO:0003005 []
synonym: "localized skeletal Ewing's sarcoma" EXACT [DOID:3368, NCIT:C6623]
synonym: "osseous Ewing's sarcoma" EXACT [NCIT:C4835]
synonym: "osseous Ewing's tumor" EXACT [NCIT:C4835]
synonym: "osseous Ewing's tumour" EXACT OMO:0003005 []
synonym: "skeletal Ewing's sarcoma" EXACT [NCIT:C4835]
synonym: "skeletal Ewing's tumor" EXACT [DOID:3368, NCIT:C4835]
synonym: "skeletal Ewing's tumour" EXACT OMO:0003005 []
xref: DOID:3368 {source="MONDO:equivalentTo"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:108438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35871 {source="DOID:3368"}
xref: NCIT:C4835 {source="DOID:3368", source="MONDO:equivalentTo"}
xref: NCIT:C6623 {source="DOID:3368"}
xref: SCTID:307608006 {source="DOID:3368", source="MONDO:equivalentTo"}
xref: UMLS:C0585474 {source="MEDGEN:108438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012817 {source="DOID:3368", source="MONDO:Redundant", source="NCIT:C4835"} ! Ewing sarcoma
is_a: MONDO:0021054 {source="NCIT:C4835"} ! bone sarcoma
is_a: MONDO:0021123 {source="MONDO:Redundant", source="NCIT:C4835"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
intersection_of: MONDO:0012817 ! Ewing sarcoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0002626
name: spinal accessory nerve neoplasm
def: "A neoplasm involving a accessory XI nerve spinal component." [MONDO:patterns/neoplasm]
synonym: "accessory nerve neoplasm" EXACT [NCIT:C5829]
synonym: "accessory XI nerve spinal component neoplasm" EXACT []
synonym: "accessory XI nerve spinal component neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "accessory XI nerve spinal component tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "accessory XI nerve spinal component tumour" EXACT OMO:0003005 []
synonym: "eleventh cranial nerve neoplasm" EXACT [NCIT:C5829]
synonym: "eleventh cranial nerve neoplasms" EXACT [NCIT:C5829]
synonym: "eleventh cranial nerve tumor" EXACT [NCIT:C5829]
synonym: "eleventh cranial nerve tumors" EXACT [NCIT:C5829]
synonym: "eleventh cranial nerve tumour" EXACT OMO:0003005 []
synonym: "eleventh cranial nerve tumours" EXACT OMO:0003005 []
synonym: "neoplasm of accessory nerve" EXACT [DOID:337]
synonym: "neoplasm of accessory XI nerve spinal component" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of eleventh cranial nerve" EXACT [NCIT:C5829]
synonym: "neoplasm of spinal accessory nerve" EXACT [NCIT:C5829]
synonym: "neoplasm of the eleventh cranial nerve" EXACT [NCIT:C5829]
synonym: "neoplasm of the spinal accessory nerve" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve neoplasm" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve neoplasms" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve tumor" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve tumors" EXACT [NCIT:C5829]
synonym: "spinal accessory nerve tumour" EXACT OMO:0003005 []
synonym: "spinal accessory nerve tumours" EXACT OMO:0003005 []
synonym: "tumor of accessory XI nerve spinal component" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of eleventh cranial nerve" EXACT [NCIT:C5829]
synonym: "tumor of spinal accessory nerve" EXACT [NCIT:C5829]
synonym: "tumor of the eleventh cranial nerve" EXACT [NCIT:C5829]
synonym: "tumor of the spinal accessory nerve" EXACT [NCIT:C5829]
synonym: "tumour of accessory XI nerve spinal component" EXACT OMO:0003005 []
synonym: "tumour of eleventh cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of spinal accessory nerve" EXACT OMO:0003005 []
synonym: "tumour of the eleventh cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the spinal accessory nerve" EXACT OMO:0003005 []
synonym: "XIth cranial nerve neoplasms" EXACT [NCIT:C5829]
synonym: "XIth cranial nerve tumors" EXACT [DOID:337, NCIT:C5829]
synonym: "XIth cranial nerve tumours" EXACT OMO:0003005 []
xref: DOID:337 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5829 {source="DOID:337", source="MONDO:equivalentTo"}
xref: SCTID:126977003 {source="DOID:337", source="MONDO:equivalentTo"}
xref: UMLS:C1263902 {source="MEDGEN:266074", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002633 {source="DOID:337", source="MONDO:Redundant", source="NCIT:C5829"} ! cranial nerve neoplasm
is_a: MONDO:0002636 {source="MONDO:Redundant", source="NCIT:C5829"} ! accessory nerve disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0009674 ! accessory XI nerve spinal component

[Term]
id: MONDO:0002627
name: chondroblastic osteosarcoma
def: "An osteosarcoma characterized by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation." [NCIT:C4021]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondroblastic osteogenic sarcoma" EXACT [NCIT:C4021]
synonym: "chondroblastic osteosarcoma" EXACT [NCIT:C4021]
synonym: "chondroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:3372]
synonym: "chondrosarcomatous osteogenic sarcoma" EXACT [DOID:3372, NCIT:C4021]
synonym: "CHOS" RELATED ABBREVIATION [ONCOTREE:CHOS]
xref: DOID:3372 {source="MONDO:equivalentTo"}
xref: ICDO:9181/3 {source="NCIT:C4021"}
xref: MEDGEN:79013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4021 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3372"}
xref: ONCOTREE:CHOS {source="MONDO:equivalentTo"}
xref: SCTID:76312009 {source="DOID:3372"}
xref: UMLS:C0279603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79013"}
is_a: MONDO:0002631 {source="NCIT:C4021"} ! conventional osteosarcoma
is_a: MONDO:0009807 {source="DOID:3372", source="MONDO:Redundant", source="NCIT:C4021/inferred", source="ONCOTREE:CHOS"} ! osteosarcoma

[Term]
id: MONDO:0002628
name: peripheral osteosarcoma
def: "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bone surface (peripheral) osteosarcoma" EXACT [NCIT:C7134]
synonym: "peripheral osteosarcoma" EXACT [NCIT:C7134]
synonym: "surface osteosarcoma" EXACT [DOID:3374, NCIT:C7134]
xref: DOID:3374 {source="MONDO:equivalentTo"}
xref: MEDGEN:272379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7134 {source="DOID:3374", source="MONDO:equivalentTo"}
xref: UMLS:C1332591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272379"}
is_a: MONDO:0002629 {source="DOID:3374", source="NCIT:C7134/inferred"} ! bone osteosarcoma

[Term]
id: MONDO:0002629
name: bone osteosarcoma
def: "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." [NCIT:C53707]
subset: gard_rare {source="GARD:7284", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:668"}
subset: orphanet_rare {source="Orphanet:668"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone osteosarcoma" EXACT [NCIT:C53707]
synonym: "osteosarcoma of bone" EXACT [NCIT:C53707]
synonym: "osteosarcoma, somatic" EXACT [OMIM:259500, OMIM:genemap2]
synonym: "osteosarcoma, somatic mutation" EXACT [OMIM:259500, OMIM:genemap2]
synonym: "primary osteosarcoma of bone" EXACT [DOID:3376, NCIT:C4834]
xref: DOID:3376 {source="MONDO:equivalentTo"}
xref: GARD:7284 {source="MONDO:GARD"}
xref: ICD10CM:C41.9 {source="Orphanet:668/ntbt", source="Orphanet:668"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10031291 {source="Orphanet:668", source="Orphanet:668/e"}
xref: MEDGEN:108437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012516 {source="Orphanet:668", source="DOID:3347", source="Orphanet:668/e", source="EFO:0000637"}
xref: NCIT:C53707 {source="DOID:3376", source="MONDO:equivalentTo"}
xref: OMIM:259500 {source="Orphanet:668", source="MONDO:equivalentTo", source="DOID:3347", source="Orphanet:668/e", source="EFO:0000637"}
xref: Orphanet:668 {source="MONDO:equivalentTo", source="OMIM:259500"}
xref: SCTID:307576001 {source="DOID:3376", source="MONDO:equivalentTo"}
xref: UMLS:C0585442 {source="MEDGEN:108437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009807 {source="DOID:3376", source="NCIT:C53707"} ! osteosarcoma
is_a: MONDO:0021054 {source="NCIT:C53707", source="Orphanet:668"} ! bone sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0002630
name: small cell osteogenic sarcoma
def: "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "round cell osteosarcoma" EXACT [DOID:3377]
synonym: "SCOS" RELATED ABBREVIATION [ONCOTREE:SCOS]
synonym: "small cell osteosarcoma" EXACT [DOID:3377, NCIT:C4023]
xref: DOID:3377 {source="MONDO:equivalentTo"}
xref: ICDO:9185/3 {source="NCIT:C4023"}
xref: MEDGEN:83532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4023 {source="DOID:3377", source="MONDO:equivalentTo"}
xref: ONCOTREE:SCOS {source="MONDO:equivalentTo"}
xref: SCTID:12302002 {source="DOID:3377"}
xref: SCTID:189882001 {source="DOID:3377"}
xref: UMLS:C0279622 {source="MEDGEN:83532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006974 {source="NCIT:C4023"} ! small cell sarcoma
relationship: disease_has_location UBERON:0002481 ! bone tissue
relationship: excluded_subClassOf MONDO:0002631 {source="DOID:3377", source="https://orcid.org/0000-0001-5208-3432"} ! conventional osteosarcoma

[Term]
id: MONDO:0002631
name: conventional osteosarcoma
def: "A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." [NCIT:C35870]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central osteosarcoma" EXACT [NCIT:C35870]
synonym: "conventional central osteosarcoma" EXACT [DOID:3378, NCIT:C35870]
synonym: "conventional osteosarcoma" EXACT [NCIT:C35870]
synonym: "intracortical osteogenic sarcoma" EXACT [MONDO:0004300, NCIT:C35870]
synonym: "intracortical osteosarcoma" EXACT [DOID:7602, NCIT:C35870]
synonym: "intracortical osteosarcoma (morphologic abnormality)" EXACT [DOID:7602]
synonym: "medullary osteosarcoma" EXACT [NCIT:C35870]
xref: DOID:3378 {source="MONDO:equivalentObsolete"}
xref: DOID:7602 {source="MONDO:equivalentTo"}
xref: ICDO:9186/3 {source="NCIT:C35870"}
xref: ICDO:9195/3 {source="NCIT:C35870"}
xref: MEDGEN:220429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35870 {source="DOID:7602", source="MONDO:equivalentTo"}
xref: SCTID:128770002 {source="DOID:7602"}
xref: SCTID:128774006 {source="DOID:7602"}
xref: UMLS:C1266166 {source="MEDGEN:220429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002629 {source="DOID:3378", source="NCIT:C35870/inferred"} ! bone osteosarcoma
relationship: disease_arises_from_structure UBERON:0007195 ! stroma of bone marrow

[Term]
id: MONDO:0002632
name: metachronous osteosarcoma of the bone
def: "A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "metachronous osteosarcoma" EXACT [NCIT:C38157]
synonym: "metachronous osteosarcoma of the bone" EXACT [NCIT:C38157]
xref: DOID:3379 {source="MONDO:equivalentTo"}
xref: MEDGEN:233695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38157 {source="DOID:3379", source="MONDO:equivalentTo"}
xref: UMLS:C1334704 {source="MEDGEN:233695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002629 {source="NCIT:C38157"} ! bone osteosarcoma
is_a: MONDO:0009807 {source="DOID:3379", source="MONDO:Redundant", source="NCIT:C38157/inferred"} ! osteosarcoma

[Term]
id: MONDO:0002633
name: cranial nerve neoplasm
def: "Abnormal growth of the cells that comprise the cranial nerves." [NCIT:C2963]
subset: otar {source="MONDO:OTAR"}
synonym: "cranial nerve neoplasm" EXACT [NCIT:C2963]
synonym: "cranial nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cranial nerve neoplasms" EXACT [NCIT:C2963]
synonym: "cranial nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2963]
synonym: "cranial nerve tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963]
synonym: "neoplasm of the cranial nerve" EXACT [NCIT:C2963]
synonym: "tumor of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963]
synonym: "tumor of the cranial nerve" EXACT [DOID:338, NCIT:C2963]
synonym: "tumour of cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the cranial nerve" EXACT OMO:0003005 []
xref: DOID:338 {source="MONDO:equivalentObsolete"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003390 {source="DOID:338", source="MONDO:equivalentTo"}
xref: NCIT:C2963 {source="DOID:338", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126966009 {source="DOID:338", source="MONDO:equivalentTo"}
xref: UMLS:C0010267 {source="MEDGEN:3263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001406 {source="MESH:D003390", source="MONDO:Redundant"} ! peripheral nervous system neoplasm
is_a: MONDO:0003569 {source="MESH:D003390", source="MONDO:Redundant", source="NCIT:C2963"} ! cranial nerve neuropathy
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001785 ! cranial nerve

[Term]
id: MONDO:0002634
name: liposarcoma of bone
def: "A very rare malignant adipose tissue neoplasm that arises from the bone." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bone liposarcoma" EXACT [NCIT:C7598]
synonym: "bone tissue liposarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "liposarcoma of bone" EXACT [NCIT:C7598]
synonym: "liposarcoma of bone tissue" EXACT [MONDO:design_pattern]
synonym: "liposarcoma of the bone" EXACT [DOID:3381, NCIT:C7598]
xref: DOID:3381 {source="MONDO:equivalentTo"}
xref: MEDGEN:231450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7598 {source="MONDO:equivalentTo", source="DOID:3381"}
xref: UMLS:C1332581 {source="MEDGEN:231450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="DOID:3381", source="MONDO:Redundant", source="NCIT:C7598"} ! liposarcoma
is_a: MONDO:0021054 {source="MONDO:Redundant", source="NCIT:C7598"} ! bone sarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue
relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3381", source="https://orcid.org/0000-0001-5208-3432"} ! osteosarcoma

[Term]
id: MONDO:0002635
name: periodontal disorder
def: "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of periodontium" EXACT [MONDO:patterns/location_top]
synonym: "disease of supporting structures of teeth" EXACT [DOID:3388]
synonym: "disease of supporting structures of teeth, NOS" RELATED EXCLUDE [DOID:3388]
synonym: "disease or disorder of periodontium" EXACT []
synonym: "disorder of periodontium" EXACT [MONDO:patterns/location_top]
synonym: "periodontal disease" EXACT [DOID:3388]
synonym: "periodontal disorder" EXACT [NCIT:C63743]
synonym: "periodontium disease" EXACT [MONDO:patterns/location]
synonym: "periodontium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "periodontium disorder" EXACT [DOID:3388]
xref: DOID:3388 {source="MONDO:equivalentTo"}
xref: ICD10CM:K05.6 {source="DOID:3388"}
xref: ICD9:523.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010510 {source="DOID:3388", source="MONDO:equivalentTo"}
xref: NCIT:C63743 {source="DOID:3388", source="MONDO:equivalentTo"}
xref: SCTID:13877006 {source="DOID:3388"}
xref: SCTID:196354003 {source="DOID:3388"}
xref: SCTID:2556008 {source="DOID:3388", source="MONDO:equivalentTo"}
xref: UMLS:C0031090 {source="MEDGEN:10658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006999 {source="DOID:3388", source="NCIT:C63743/inferred"} ! tooth disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001758 ! periodontium

[Term]
id: MONDO:0002636
name: accessory nerve disorder
def: "A disease involving the accessory XI nerve." [https://orcid.org/0000-0002-6601-2165]
synonym: "accessory nerve disorder" EXACT [NCIT:C26953]
synonym: "accessory XI nerve disease" EXACT [MONDO:patterns/location]
synonym: "accessory XI nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of accessory XI nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of accessory XI nerve" EXACT []
synonym: "disorder of 11th nerve" EXACT [DOID:339, NCIT:C26953]
synonym: "disorder of accessory [11th] nerve" EXACT [DOID:339, ICD9CM:352.4]
synonym: "disorder of accessory nerve" EXACT [DOID:339]
synonym: "disorder of accessory XI nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the 11th nerve" EXACT [NCIT:C26953]
synonym: "eleventh nerve disorder" EXACT [DOID:339, NCIT:C26953]
xref: DOID:339 {source="MONDO:equivalentTo"}
xref: ICD9:352.4 {source="DOID:339", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020436 {source="DOID:339", source="MONDO:equivalentTo"}
xref: NCIT:C26953 {source="DOID:339", source="MONDO:equivalentTo"}
xref: SCTID:84759007 {source="DOID:339", source="MONDO:equivalentTo"}
xref: UMLS:C0152180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57512"}
is_a: MONDO:0003569 {source="DOID:339/inferred", source="MESH:D020436", source="MONDO:Redundant", source="NCIT:C26953"} ! cranial nerve neuropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002019 ! accessory XI nerve
relationship: excluded_subClassOf MONDO:0002639 {source="DOID:339", source="https://orcid.org/0000-0001-5208-3432"} ! glossopharyngeal nerve disorder

[Term]
id: MONDO:0002637
name: histiocytosis
def: "A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes." [NCIT:C3106]
synonym: "chronic histiocytosis X" EXACT [DOID:3405]
synonym: "hand Schuller Christian disease" EXACT [DOID:3405]
synonym: "histiocytic and dendritic cell neoplasms" RELATED [ONCOTREE:HDCN]
synonym: "histiocytic infiltrate" EXACT [NCIT:C3106]
synonym: "histiocytic syndrome" EXACT [NCIT:C3106]
xref: DOID:3405 {source="MONDO:equivalentTo"}
xref: MEDGEN:6845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015614 {source="MONDO:equivalentTo", source="DOID:3405"}
xref: NANDO:2100005 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3106 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:3405"}
xref: ONCOTREE:HDCN {source="MONDO:equivalentTo"}
xref: SCTID:190957008 {source="DOID:3405"}
xref: SCTID:60657004 {source="DOID:3405"}
xref: SCTID:65396000 {source="DOID:3405"}
xref: UMLS:C0019618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6845"}
is_a: MONDO:0005833 {source="DOID:3405", source="MESH:D015614"} ! lymphatic system disorder

[Term]
id: MONDO:0002638
name: glossopharyngeal nerve neoplasm
def: "A neoplasm involving a glossopharyngeal nerve." [MONDO:patterns/neoplasm]
synonym: "glossopharyngeal nerve neoplasm" EXACT [NCIT:C5828]
synonym: "glossopharyngeal nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "glossopharyngeal nerve neoplasms" EXACT [NCIT:C5828]
synonym: "glossopharyngeal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5828]
synonym: "glossopharyngeal nerve tumors" EXACT [NCIT:C5828]
synonym: "glossopharyngeal nerve tumour" EXACT OMO:0003005 []
synonym: "glossopharyngeal nerve tumours" EXACT OMO:0003005 []
synonym: "IXth cranial nerve neoplasms" EXACT [NCIT:C5828]
synonym: "IXth cranial nerve tumors" EXACT [NCIT:C5828]
synonym: "IXth cranial nerve tumours" EXACT OMO:0003005 []
synonym: "neoplasm of glossopharyngeal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5828]
synonym: "neoplasm of Ninth cranial nerve" EXACT [NCIT:C5828]
synonym: "neoplasm of the glossopharyngeal nerve" EXACT [NCIT:C5828]
synonym: "neoplasm of the Ninth cranial nerve" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve neoplasm" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve neoplasms" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve tumor" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve tumors" EXACT [NCIT:C5828]
synonym: "Ninth cranial nerve tumour" EXACT OMO:0003005 []
synonym: "Ninth cranial nerve tumours" EXACT OMO:0003005 []
synonym: "tumor of glossopharyngeal nerve" EXACT [DOID:3417, MONDO:patterns/neoplasm, NCIT:C5828]
synonym: "tumor of Ninth cranial nerve" EXACT [NCIT:C5828]
synonym: "tumor of the glossopharyngeal nerve" EXACT [NCIT:C5828]
synonym: "tumor of the Ninth cranial nerve" EXACT [NCIT:C5828]
synonym: "tumour of glossopharyngeal nerve" EXACT OMO:0003005 []
synonym: "tumour of Ninth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the glossopharyngeal nerve" EXACT OMO:0003005 []
synonym: "tumour of the Ninth cranial nerve" EXACT OMO:0003005 []
xref: DOID:3417 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5828 {source="MONDO:equivalentTo", source="DOID:3417", source="MONDO:exact-label-match"}
xref: SCTID:126975006 {source="MONDO:equivalentTo", source="DOID:3417"}
xref: UMLS:C1263900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224734"}
is_a: MONDO:0002633 {source="DOID:3417", source="MONDO:Redundant", source="NCIT:C5828"} ! cranial nerve neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve

[Term]
id: MONDO:0002639
name: glossopharyngeal nerve disorder
def: "A disease involving the glossopharyngeal nerve." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of glossopharyngeal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of glossopharyngeal nerve" EXACT []
synonym: "disorder of glossopharyngeal nerve" EXACT [MONDO:patterns/location_top]
synonym: "glossopharyngeal nerve disease" EXACT [MONDO:patterns/location]
synonym: "glossopharyngeal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "glossopharyngeal nerve disorder" EXACT [NCIT:C27211]
synonym: "IX nerve disorder" EXACT [NCIT:C27211]
synonym: "ninth nerve disorder" EXACT [NCIT:C27211]
xref: DOID:3418 {source="MONDO:equivalentTo"}
xref: ICD10CM:G52 {source="DOID:3418"}
xref: ICD9:352 {source="DOID:3418"}
xref: ICD9:352.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:199771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27211 {source="MONDO:equivalentTo"}
xref: SCTID:193098000 {source="DOID:3418"}
xref: SCTID:80962007 {source="MONDO:equivalentTo"}
xref: UMLS:C0751941 {source="MEDGEN:199771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003569 {source="DOID:3418", source="MONDO:Redundant", source="NCIT:C27211"} ! cranial nerve neuropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve

[Term]
id: MONDO:0002640
name: optic nerve neoplasm
def: "Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas." [NCIT:C4801]
subset: otar {source="MONDO:OTAR"}
synonym: "cranial nerve II neoplasm" EXACT []
synonym: "cranial nerve II neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cranial nerve II neoplasms" EXACT [NCIT:C4801]
synonym: "cranial nerve II tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cranial nerve II tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cranial nerve II" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of optic nerve" EXACT [NCIT:C4801]
synonym: "neoplasm of second cranial nerve" EXACT [NCIT:C4801]
synonym: "neoplasm of the optic nerve" EXACT [NCIT:C4801]
synonym: "neoplasm of the second cranial nerve" EXACT [NCIT:C4801]
synonym: "neoplasms, optic nerve" EXACT [NCIT:C4801]
synonym: "neoplasms, second cranial nerve" EXACT [NCIT:C4801]
synonym: "optic nerve neoplasm" EXACT [NCIT:C4801]
synonym: "optic nerve neoplasms" EXACT [NCIT:C4801]
synonym: "optic nerve tumor" EXACT [NCIT:C4801]
synonym: "optic nerve tumour" EXACT OMO:0003005 []
synonym: "second cranial nerve neoplasm" EXACT [NCIT:C4801]
synonym: "second cranial nerve neoplasms" EXACT [NCIT:C4801]
synonym: "second cranial nerve tumor" EXACT [NCIT:C4801]
synonym: "second cranial nerve tumour" EXACT OMO:0003005 []
synonym: "tumor of cranial nerve II" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of optic nerve" EXACT [DOID:3419, NCIT:C4801]
synonym: "tumor of second cranial nerve" EXACT [DOID:3419, NCIT:C4801]
synonym: "tumor of the optic nerve" EXACT [NCIT:C4801]
synonym: "tumor of the second cranial nerve" EXACT [NCIT:C4801]
synonym: "tumour of cranial nerve II" EXACT OMO:0003005 []
synonym: "tumour of optic nerve" EXACT OMO:0003005 []
synonym: "tumour of second cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the optic nerve" EXACT OMO:0003005 []
synonym: "tumour of the second cranial nerve" EXACT OMO:0003005 []
xref: DOID:3419 {source="MONDO:equivalentTo"}
xref: EFO:1001073 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:101181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019574 {source="MONDO:equivalentTo", source="DOID:3419"}
xref: NCIT:C4801 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3419"}
xref: SCTID:126968005 {source="DOID:3419"}
xref: SCTID:254971001 {source="DOID:3419"}
xref: SCTID:395505000 {source="MONDO:equivalentTo", source="DOID:3419"}
xref: UMLS:C0524802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101181"}
is_a: MONDO:0002135 {source="MESH:D019574", source="MONDO:Redundant", source="NCIT:C4801"} ! optic nerve disorder
is_a: MONDO:0002633 {source="DOID:3419", source="MESH:D019574", source="NCIT:C4801"} ! cranial nerve neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000941 ! cranial nerve II

[Term]
id: MONDO:0002641
name: subclavian artery aneurysm
def: "A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm." [https://heart.uvahealth.com/services/aneurysms/subclavian-aneurysm]
comment: Editor note: consider moving to HPO
xref: DOID:342 {source="MONDO:equivalentTo"}
xref: ICD9:442.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:342"}
xref: MEDGEN:510068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:40136003 {source="MONDO:equivalentTo", source="DOID:342"}
xref: UMLS:C0155746 {source="MEDGEN:510068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="DOID:342"} ! arterial disorder
relationship: disease_has_location UBERON:0001533 ! subclavian artery

[Term]
id: MONDO:0002642
name: trochlear nerve neoplasm
def: "A neoplasm involving a trochlear nerve." [MONDO:patterns/neoplasm]
synonym: "fourth cranial nerve neoplasm" EXACT [NCIT:C5825]
synonym: "fourth cranial nerve neoplasms" EXACT [NCIT:C5825]
synonym: "fourth cranial nerve tumor" EXACT [NCIT:C5825]
synonym: "fourth cranial nerve tumors" EXACT [NCIT:C5825]
synonym: "fourth cranial nerve tumour" EXACT OMO:0003005 []
synonym: "fourth cranial nerve tumours" EXACT OMO:0003005 []
synonym: "IVth cranial nerve neoplasms" EXACT [NCIT:C5825]
synonym: "IVth cranial nerve tumors" EXACT [NCIT:C5825]
synonym: "IVth cranial nerve tumours" EXACT OMO:0003005 []
synonym: "neoplasm of fourth cranial nerve" EXACT [NCIT:C5825]
synonym: "neoplasm of the fourth cranial nerve" EXACT [NCIT:C5825]
synonym: "neoplasm of the trochlear nerve" EXACT [NCIT:C5825]
synonym: "neoplasm of trochlear nerve" EXACT [MONDO:patterns/neoplasm]
synonym: "trochlear nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "trochlear nerve neoplasms" EXACT [NCIT:C5825]
synonym: "trochlear nerve tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "trochlear nerve tumors" EXACT [NCIT:C5825]
synonym: "trochlear nerve tumour" EXACT OMO:0003005 []
synonym: "trochlear nerve tumours" EXACT OMO:0003005 []
synonym: "tumor of fourth cranial nerve" EXACT [NCIT:C5825]
synonym: "tumor of the fourth cranial nerve" EXACT [NCIT:C5825]
synonym: "tumor of the trochlear nerve" EXACT [NCIT:C5825]
synonym: "tumor of trochlear nerve" EXACT [DOID:3421, MONDO:patterns/neoplasm, NCIT:C5825]
synonym: "tumour of fourth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the fourth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the trochlear nerve" EXACT OMO:0003005 []
synonym: "tumour of trochlear nerve" EXACT OMO:0003005 []
xref: DOID:3421 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5825 {source="DOID:3421", source="MONDO:equivalentTo"}
xref: SCTID:126970001 {source="DOID:3421", source="MONDO:equivalentTo"}
xref: UMLS:C1263896 {source="MEDGEN:226811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002633 {source="DOID:3421", source="MONDO:Redundant", source="NCIT:C5825"} ! cranial nerve neoplasm
is_a: MONDO:0007002 {source="MONDO:Redundant", source="NCIT:C5825"} ! trochlear nerve disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001644 ! trochlear nerve

[Term]
id: MONDO:0002643
name: vestibular disorder
def: "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls." [MESH:D015837]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease of vestibular labyrinth" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease of vestibular system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vestibular labyrinth" EXACT []
synonym: "disorder of vestibular labyrinth" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of vestibular system" RELATED [MONDO:patterns/location_top]
synonym: "vertigo, vestibular disorder" EXACT [DOID:3426]
synonym: "vestibular labyrinth disease" EXACT [MONDO:design_pattern]
synonym: "vestibular labyrinth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vestibular system disease" EXACT [MONDO:patterns/location]
xref: DOID:3426 {source="MONDO:equivalentTo"}
xref: EFO:0009691 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H81 {source="DOID:3426"}
xref: ICD10CM:H81.9 {source="DOID:3426"}
xref: ICD10CM:H81.90 {source="DOID:3426"}
xref: MEDGEN:12079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015837 {source="MONDO:equivalentTo", source="DOID:3426"}
xref: SCTID:194379003 {source="DOID:3426"}
xref: SCTID:194695008 {source="DOID:3426"}
xref: SCTID:20425006 {source="DOID:3426"}
xref: SCTID:267761002 {source="DOID:3426"}
xref: UMLS:C0042594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12079"}
is_a: MONDO:0002467 {source="DOID:3426", source="MESH:D015837", source="MONDO:Redundant"} ! inner ear disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001862 ! vestibular labyrinth
relationship: disease_disrupts GO:0050957 ! equilibrioception

[Term]
id: MONDO:0002644
name: idiopathic granulomatous myositis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "granulomatous myositis" RELATED [DOID:3428]
synonym: "idiopathic granulomatous myositis" EXACT [NCIT:C27575]
xref: DOID:3428 {source="MONDO:equivalentTo"}
xref: MEDGEN:235204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27575 {source="MONDO:equivalentTo", source="DOID:3428"}
xref: Orphanet:206979 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1334150 {source="MEDGEN:235204", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021167 {source="DOID:3428", source="NCIT:C27575"} ! myositis disease
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0002645
name: cerebritis
def: "Inflammation of the cerebrum." [NCIT:P378]
synonym: "cerebral hemisphere inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of cerebral hemisphere" EXACT []
xref: DOID:3431 {source="MONDO:equivalentTo"}
xref: MEDGEN:149273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27199 {source="DOID:3431", source="MONDO:equivalentTo"}
xref: UMLS:C0742115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:149273"}
is_a: MONDO:0005560 {source="DOID:3431", source="MONDO:Redundant", source="MONDO:indirect"} ! brain disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C27199/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001869 ! cerebral hemisphere

[Term]
id: MONDO:0002646
name: viral laryngitis
def: "Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus." [NCIT:P378]
synonym: "Viruses caused laryngitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses laryngitis" EXACT []
xref: DOID:3436 {source="MONDO:equivalentTo"}
xref: ICD9:464.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:167276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27305 {source="DOID:3436", source="MONDO:equivalentTo"}
xref: SCTID:441551009 {source="DOID:3436", source="MONDO:equivalentTo"}
xref: UMLS:C0853195 {source="MEDGEN:167276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002647 {source="DOID:3436/inferred", source="MONDO:Redundant", source="NCIT:C27305"} ! laryngitis
is_a: MONDO:0004777 {source="DOID:3436"} ! acute laryngitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
intersection_of: disease_has_inflammation_site UBERON:0001737 ! larynx

[Term]
id: MONDO:0002647
name: laryngitis
def: "An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of larynx" EXACT []
synonym: "laryngeal Inflammation" EXACT [NCIT:C26811]
synonym: "laryngeal inflammation" EXACT [NCIT:C26811]
synonym: "larynx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:3437 {source="MONDO:equivalentTo"}
xref: ICD9:464.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007827 {source="MONDO:equivalentTo", source="DOID:3437"}
xref: NCIT:C26811 {source="MONDO:equivalentTo", source="DOID:3437"}
xref: SCTID:45913009 {source="MONDO:equivalentTo", source="DOID:3437"}
xref: UMLS:C0023067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7273"}
is_a: MONDO:0004382 {source="DOID:3437", source="MESH:D007827", source="MONDO:Redundant", source="NCIT:C26811/inferred"} ! laryngeal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001737 ! larynx
relationship: disease_has_feature HP:0001609 ! Hoarse voice
relationship: disease_has_feature HP:0001686 ! Loss of voice

[Term]
id: MONDO:0002648
name: mammary Paget disease
def: "A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur." [NCIT:C47857]
synonym: "breast Paget disease" EXACT [MONDO:patterns/location]
synonym: "mammary Paget disease" EXACT [DOID:3443]
synonym: "mammary Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C47857]
synonym: "Paget cell neoplasm" EXACT [DOID:3443]
synonym: "Paget disease of the breast" EXACT [NCIT:C47857]
synonym: "Paget's disease" BROAD EXCLUDE [DOID:3443]
synonym: "Paget's disease of breast" EXACT [NCIT:C47857]
synonym: "Paget's disease of the breast" EXACT [DOID:3443, NCIT:C47857]
xref: DOID:3443 {source="MONDO:equivalentTo"}
xref: ICDO:8540/3 {source="NCIT:C47857"}
xref: MEDGEN:18263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010144 {source="MONDO:equivalentTo"}
xref: NCIT:C47857 {source="MONDO:equivalentTo"}
xref: UMLS:C0030185 {source="MEDGEN:18263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004988 {source="DOID:3443", source="MONDO:Redundant", source="NCIT:C47857"} ! breast adenocarcinoma
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C47857"} ! Paget disease
intersection_of: MONDO:0021165 ! Paget disease
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002649
name: scrotum Paget disease
def: "A mammary Paget's disease that involves the scrotum." [MONDO:patterns/location]
synonym: "Paget disease of the scrotum" EXACT [NCIT:C7728]
synonym: "Paget's disease of scrotum" EXACT [DOID:3444, NCIT:C7728]
synonym: "Paget's disease of the scrotum" EXACT [NCIT:C7728]
synonym: "scrotal Paget's disease" EXACT [NCIT:C7728]
synonym: "scrotum mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "scrotum Paget disease" EXACT [DOID:3444, MONDO:patterns/location]
synonym: "scrotum Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:3444 {source="MONDO:equivalentTo"}
xref: MEDGEN:65959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7728 {source="DOID:3444", source="MONDO:equivalentTo"}
xref: UMLS:C0238330 {source="MEDGEN:65959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002650 {source="DOID:3444", source="MONDO:Redundant", source="NCIT:C7728"} ! scrotal carcinoma
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C7728/inferred"} ! Paget disease
intersection_of: MONDO:0021165 ! Paget disease
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0002650
name: scrotal carcinoma
def: "A carcinoma that arises from epithelial cells of the scrotum." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of scrotum" BROAD [NCIT:C6389]
synonym: "cancer of the scrotum" BROAD [NCIT:C6389]
synonym: "carcinoma of scrotum" EXACT [DOID:3445, MONDO:patterns/carcinoma, NCIT:C6389]
synonym: "carcinoma of the scrotum" EXACT [NCIT:C6389]
synonym: "scrotal cancer" BROAD [NCIT:C6389]
synonym: "scrotum carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3445 {source="MONDO:equivalentTo"}
xref: MEDGEN:235088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6389 {source="DOID:3445", source="MONDO:equivalentTo"}
xref: UMLS:C1370468 {source="MEDGEN:235088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="DOID:3445", source="MONDO:Redundant", source="NCIT:C6389/inferred"} ! carcinoma
is_a: MONDO:0021112 {source="MONDO:Redundant", source="NCIT:C6389"} ! scrotum cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0002651
name: anal Paget disease
def: "A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO)." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal Paget disease" EXACT [DOID:3446]
synonym: "anal Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C5598]
synonym: "anus mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "anus Paget disease" EXACT [MONDO:patterns/location]
synonym: "Paget disease of the anus" EXACT [NCIT:C5598]
synonym: "Paget's disease of anus" EXACT [DOID:3446, NCIT:C5598]
synonym: "Paget's disease of the anus" EXACT [DOID:3446, NCIT:C5598]
xref: DOID:3446 {source="MONDO:equivalentTo"}
xref: MEDGEN:233981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5598 {source="MONDO:equivalentTo", source="DOID:3446"}
xref: UMLS:C1332274 {source="MEDGEN:233981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002652 {source="DOID:3446", source="MONDO:Redundant", source="NCIT:C5598"} ! anus adenocarcinoma
is_a: MONDO:0008177 {source="NCIT:C5598"} ! extramammary Paget disease
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C5598/inferred"} ! Paget disease
intersection_of: MONDO:0021165 ! Paget disease
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0002652
name: anus adenocarcinoma
def: "An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis." [NCIT:C5600]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of anus" EXACT [DOID:3447, NCIT:C5600]
synonym: "adenocarcinoma of the anus" EXACT [DOID:3447, NCIT:C5600]
synonym: "anal adenocarcinoma" EXACT [NCIT:C5600]
synonym: "anus adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3447 {source="MONDO:equivalentTo"}
xref: MEDGEN:233976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5600 {source="DOID:3447", source="MONDO:equivalentTo"}
xref: SCTID:423607006 {source="DOID:3447", source="MONDO:equivalentTo"}
xref: UMLS:C1332257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233976"}
is_a: MONDO:0003199 {source="DOID:3447", source="MONDO:Redundant", source="NCIT:C5600"} ! anal carcinoma
is_a: MONDO:0004970 {source="DOID:3447/inferred", source="NCIT:C5600"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0002653
name: Paget disease of the penis
def: "A premalignant condition morphologically characterized by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003" [NCIT:C27817]
subset: gard_rare {source="GARD:21638", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:398053"}
subset: orphanet_rare {source="Orphanet:398053"}
subset: rare
synonym: "adenocarcinoma of penis" EXACT [MONDO:0018351]
synonym: "adenocarcinoma of the penis" RELATED [Orphanet:398053]
synonym: "Paget disease of the penis" EXACT [NCIT:C27817]
synonym: "Paget's disease of penis" EXACT [DOID:3448, NCIT:C27817]
synonym: "Paget's disease of the penis" EXACT [NCIT:C27817]
synonym: "penile adenocarcinoma" EXACT [NCIT:C27817, Orphanet:398053]
synonym: "penis adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "penis mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "penis Paget disease" EXACT [DOID:3448, MONDO:patterns/location]
synonym: "penis Paget's disease" RELATED [DOID:3448]
xref: DOID:3448 {source="MONDO:equivalentTo"}
xref: GARD:21638 {source="MONDO:GARD"}
xref: ICD10CM:C60.0 {source="Orphanet:398053/ntbt", source="Orphanet:398053"}
xref: ICD10CM:C60.1 {source="Orphanet:398053/ntbt", source="Orphanet:398053"}
xref: ICD10CM:C60.2 {source="Orphanet:398053/ntbt", source="Orphanet:398053"}
xref: ICD10CM:C60.8 {source="Orphanet:398053/ntbt", source="Orphanet:398053"}
xref: ICD10CM:C60.9 {source="Orphanet:398053/ntbt", source="Orphanet:398053"}
xref: MEDGEN:66374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27817 {source="MONDO:equivalentTo", source="DOID:3448"}
xref: Orphanet:398053 {source="MONDO:equivalentTo"}
xref: SCTID:255104003 {source="DOID:3448"}
xref: SCTID:398768004 {source="MONDO:equivalentTo", source="DOID:3448"}
xref: UMLS:C0221286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66374"}
is_a: MONDO:0006360 {source="DOID:3448", source="MONDO:0002653/inferred", source="MONDO:Redundant", source="NCIT:C27817"} ! penile carcinoma
is_a: MONDO:0008177 {source="NCIT:C27817"} ! extramammary Paget disease
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C27817/inferred"} ! Paget disease
intersection_of: MONDO:0021165 ! Paget disease
intersection_of: disease_has_location UBERON:0000989 ! penis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0002654
name: uterine disorder
def: "A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of uterus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of uterus" EXACT []
synonym: "disorder of uterus" EXACT [MONDO:patterns/location_top]
synonym: "uterine disease" EXACT [NCIT:C26907]
synonym: "uterine disorder" EXACT [NCIT:C26907]
synonym: "uterus disease" EXACT [MONDO:patterns/location]
synonym: "uterus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:345 {source="MONDO:equivalentTo"}
xref: ICD10CM:N85.9 {source="DOID:345"}
xref: ICD9:621.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:621.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:345"}
xref: MEDGEN:22590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014591 {source="MONDO:equivalentTo", source="DOID:345"}
xref: NCIT:C26907 {source="MONDO:equivalentTo", source="DOID:345"}
xref: SCTID:12337004 {source="MONDO:equivalentTo", source="DOID:345"}
xref: SCTID:156004005 {source="DOID:345"}
xref: SCTID:156009000 {source="DOID:345"}
xref: SCTID:198335006 {source="DOID:345"}
xref: SCTID:237068005 {source="DOID:345"}
xref: UMLS:C0042131 {source="MEDGEN:22590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:345", source="MESH:D014591", source="MONDO:Redundant", source="NCIT:C26907"} ! female reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000995 ! uterus

[Term]
id: MONDO:0002655
name: cutaneous Paget disease
def: "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli." [DOID:3450]
synonym: "cutaneous Paget disease" EXACT [DOID:3450]
synonym: "cutaneous Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "extramammary Paget's disease" EXACT [DOID:3450]
synonym: "Paget's disease of skin" RELATED EXCLUDE [DOID:3450]
synonym: "zone of skin Paget disease" EXACT [MONDO:patterns/location]
xref: DOID:3450 {source="MONDO:equivalentTo"}
xref: MESH:D010145 {source="MONDO:relatedTo", source="DOID:3450"}
xref: NCIT:C3302 {source="MONDO:relatedTo", source="DOID:3450"}
is_a: MONDO:0002656 {source="DOID:3450", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin carcinoma
intersection_of: MONDO:0021165 ! Paget disease
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002656
name: skin carcinoma
def: "A carcinoma that arises from epithelial cells of the zone of skin" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of skin" EXACT [DOID:3451, MTH:683, NCIT:C4914]
synonym: "carcinoma of the skin" EXACT [NCIT:C4914]
synonym: "carcinoma of zone of skin" EXACT [MONDO:patterns/carcinoma]
synonym: "non-melanoma cancer of skin" EXACT [NCIT:C4914]
synonym: "non-melanoma cancer of the skin" EXACT [NCIT:C4914]
synonym: "non-melanoma skin cancer" EXACT [NCIT:C4914]
synonym: "nonmelanoma skin cancer" EXACT [NCIT:C4914]
synonym: "skin cancer, non-melanoma" EXACT [NCIT:C4914]
synonym: "skin carcinoma" EXACT [NCIT:C4914]
synonym: "zone of skin carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3451 {source="MONDO:equivalentTo"}
xref: EFO:0009259 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:195945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4914 {source="DOID:3451", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0699893 {source="MEDGEN:195945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002898 {source="DOID:3451", source="MONDO:Redundant", source="NCIT:C4914"} ! skin cancer
is_a: MONDO:0004993 {source="DOID:3451", source="MONDO:Redundant", source="NCIT:C4914"} ! carcinoma
is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C4914"} ! epithelial skin neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002657
name: breast disorder
def: "A disease involving the breast." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "breast disease" EXACT [MONDO:patterns/location, NCIT:C26709]
synonym: "breast disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "breast diseases" EXACT [NCIT:C26709]
synonym: "breast disorder" EXACT [NCIT:C26709]
synonym: "disease of breast" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of breast" EXACT []
synonym: "disorder of breast" EXACT [MONDO:patterns/location_top]
xref: DOID:3463 {source="MONDO:equivalentTo"}
xref: EFO:0009483 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N60-N65 {source="DOID:3463", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:N64.9 {source="DOID:3463"}
xref: ICD9:610-612.99 {source="DOID:3463"}
xref: ICD9:611.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:611.9 {source="DOID:3463", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001941 {source="DOID:3463", source="MONDO:equivalentTo"}
xref: NCIT:C26709 {source="DOID:3463", source="MONDO:equivalentTo"}
xref: SCTID:155946009 {source="DOID:3463"}
xref: SCTID:155962003 {source="DOID:3463"}
xref: SCTID:155966000 {source="DOID:3463"}
xref: SCTID:198129001 {source="DOID:3463"}
xref: SCTID:198566004 {source="DOID:3463"}
xref: SCTID:266647006 {source="DOID:3463"}
xref: SCTID:79604008 {source="DOID:3463", source="MONDO:equivalentTo"}
xref: UMLS:C0006145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:652"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002658
name: iris cancer
def: "A malignant neoplasm involving the iris." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of iris" EXACT [MONDO:patterns/cancer]
synonym: "iris cancer" EXACT [MONDO:patterns/location]
synonym: "malignant iris neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant iris tumor" EXACT [NCIT:C4554]
synonym: "malignant iris tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of iris" EXACT [MONDO:patterns/cancer, NCIT:C4554]
synonym: "malignant neoplasm of the iris" EXACT [DOID:3478, NCIT:C4554]
synonym: "malignant tumor of iris" EXACT [DOID:3478]
synonym: "malignant tumor of the iris" EXACT [NCIT:C4554]
synonym: "malignant tumour of iris" EXACT OMO:0003005 []
synonym: "malignant tumour of the iris" EXACT OMO:0003005 []
synonym: "tumor of the iris" BROAD [DOID:3478, NCIT:C3142]
synonym: "tumour of the iris" BROAD OMO:0003005 []
xref: DOID:3478 {source="MONDO:equivalentTo"}
xref: MEDGEN:91103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015811 {source="DOID:3478"}
xref: NCIT:C3142 {source="DOID:3478"}
xref: NCIT:C4554 {source="DOID:3478", source="MONDO:equivalentTo"}
xref: SCTID:188264002 {source="DOID:3478", source="MONDO:equivalentTo"}
xref: SCTID:231964001 {source="DOID:3478"}
xref: UMLS:C0346372 {source="MEDGEN:91103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002289 {source="DOID:3478", source="MONDO:Redundant", source="NCIT:C4554/inferred"} ! iris disorder
is_a: MONDO:0002659 {source="DOID:3478", source="MONDO:Redundant", source="NCIT:C4554"} ! uveal cancer
is_a: MONDO:0021224 {source="MONDO:Redundant", source="NCIT:C4554"} ! iris neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001769 ! iris

[Term]
id: MONDO:0002659
name: uveal cancer
def: "A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of uvea" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the uvea" EXACT [NCIT:C6105]
synonym: "malignant neoplasm of uvea" EXACT [MONDO:patterns/cancer, NCIT:C6105]
synonym: "malignant tumor of the uvea" EXACT [NCIT:C6105]
synonym: "malignant tumor of uvea" EXACT [NCIT:C6105]
synonym: "malignant tumour of the uvea" EXACT OMO:0003005 []
synonym: "malignant tumour of uvea" EXACT OMO:0003005 []
synonym: "malignant uvea neoplasm" EXACT [DOID:3479, MONDO:patterns/cancer, NCIT:C6105]
synonym: "malignant uvea tumor" EXACT [NCIT:C6105]
synonym: "malignant uvea tumour" EXACT OMO:0003005 []
synonym: "malignant uveal neoplasm" EXACT [NCIT:C6105]
synonym: "malignant uveal tumor" EXACT [DOID:3479, NCIT:C6105]
synonym: "malignant uveal tumour" EXACT OMO:0003005 []
synonym: "uvea cancer" EXACT [MONDO:patterns/location]
synonym: "uveal tumor" BROAD [DOID:3479, NCIT:C3436]
synonym: "uveal tumour" BROAD OMO:0003005 []
xref: DOID:3479 {source="MONDO:equivalentTo"}
xref: EFO:1001230 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1772018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014604 {source="DOID:3479"}
xref: NCIT:C3436 {source="DOID:3479"}
xref: NCIT:C6105 {source="MONDO:equivalentTo", source="DOID:3479"}
xref: UMLS:C3665670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1772018"}
is_a: MONDO:0002236 {source="DOID:3479", source="MONDO:Redundant", source="NCIT:C6105"} ! ocular cancer
is_a: MONDO:0002661 {source="MONDO:Redundant", source="NCIT:C6105/inferred"} ! uveal disorder
is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C6105"} ! uvea neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001768 ! uvea

[Term]
id: MONDO:0002660
name: blepharochalasis
def: "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." [DOID:348, Wikipedia:Blepharochalasis]
synonym: "blepharochalasis" EXACT [MONDO:ambiguous]
synonym: "blepharochalasis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:348 {source="MONDO:equivalentTo"}
xref: HP:0010749 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H02.3 {source="DOID:348", source="MONDO:equivalentTo"}
xref: ICD9:374.34 {source="DOID:348", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193944001 {source="DOID:348"}
xref: SCTID:193962005 {source="DOID:348"}
xref: SCTID:267650003 {source="DOID:348"}
xref: SCTID:47704002 {source="DOID:348", source="MONDO:equivalentTo"}
xref: UMLS:C0005742 {source="MONDO:equivalentTo", source="MEDGEN:14154", source="MONDO:MEDGEN"}
is_a: MONDO:0003382 {source="DOID:348"} ! eyelid disorder
property_value: IAO:0000589 "blepharochalasis (disease)" xsd:string

[Term]
id: MONDO:0002661
name: uveal disorder
def: "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma." [NCIT:P378]
synonym: "disease of uvea" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of uvea" EXACT []
synonym: "disorder of uvea" EXACT [MONDO:patterns/location_top]
synonym: "disorder of uveal tract" RELATED [MONDO:patterns/location_top]
synonym: "uvea disease" EXACT [MONDO:patterns/location]
synonym: "uvea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "uveal disease" EXACT [NCIT:C26908]
synonym: "uveal diseases" RELATED [GARD:0008192]
synonym: "uveal disorder" EXACT [NCIT:C26908]
synonym: "uveal tract disease" EXACT [MONDO:patterns/location]
xref: DOID:3480 {source="MONDO:equivalentTo"}
xref: MEDGEN:21804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014603 {source="MONDO:equivalentTo", source="DOID:3480"}
xref: NCIT:C26908 {source="MONDO:equivalentTo", source="DOID:3480"}
xref: SCTID:95678007 {source="MONDO:equivalentTo", source="DOID:3480"}
xref: UMLS:C0042161 {source="MONDO:equivalentTo", source="MEDGEN:21804", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:3480", source="MESH:D014603", source="MONDO:Redundant", source="NCIT:C26908"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001768 ! uvea

[Term]
id: MONDO:0002662
name: obsolete plague
is_obsolete: true
replaced_by: MONDO:0019095

[Term]
id: MONDO:0002663
name: obsolete systemic mastocytosis
is_obsolete: true
replaced_by: MONDO:0016586

[Term]
id: MONDO:0002664
name: extrahepatic bile duct signet ring cell carcinoma
def: "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells." [NCIT:C5776]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct signet Ring cell carcinoma" EXACT [DOID:3494, NCIT:C5776]
synonym: "bile duct signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "extrahepatic bile duct signet Ring cell carcinoma" EXACT [NCIT:C5776]
synonym: "signet Ring cell bile duct carcinoma" EXACT [NCIT:C5776]
synonym: "signet Ring cell carcinoma of bile duct" EXACT [NCIT:C5776]
synonym: "signet Ring cell carcinoma of the bile duct" EXACT [NCIT:C5776]
xref: DOID:3494 {source="MONDO:equivalentTo"}
xref: MEDGEN:163667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5776 {source="MONDO:equivalentTo", source="DOID:3494"}
xref: UMLS:C0861859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163667"}
is_a: MONDO:0002665 {source="MONDO:Redundant", source="NCIT:C5776"} ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0003193 {source="DOID:3494", source="MONDO:Entailed", source="NCIT:C5776/inferred"} ! bile duct adenocarcinoma
is_a: MONDO:0005092 {source="DOID:3494", source="MONDO:Redundant", source="NCIT:C5776"} ! signet ring cell carcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0002665
name: extrahepatic bile duct adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of extrahepatic bile duct" EXACT [DOID:3495, NCIT:C7975]
synonym: "adenocarcinoma of the extrahepatic bile duct" EXACT [DOID:3495, NCIT:C7975]
synonym: "extrahepatic bile duct adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C7975]
xref: DOID:3495 {source="MONDO:equivalentTo"}
xref: MEDGEN:124642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7975 {source="DOID:3495", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0279659 {source="MONDO:equivalentTo", source="MEDGEN:124642", source="MONDO:MEDGEN"}
is_a: MONDO:0003090 {source="DOID:3495", source="MONDO:Redundant", source="NCIT:C7975"} ! extrahepatic bile duct carcinoma
is_a: MONDO:0003193 {source="DOID:3495", source="MONDO:Redundant", source="NCIT:C7975"} ! bile duct adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0002666
name: pancreatic signet ring cell adenocarcinoma
def: "A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern." [NCIT:C5720]
synonym: "pancreas signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic signet Ring cell carcinoma" EXACT [NCIT:C5720]
synonym: "pancreatic signet ring cell carcinoma" EXACT [DOID:3497]
synonym: "signet Ring cell carcinoma of pancreas" EXACT [DOID:3497, NCIT:C5720]
synonym: "signet Ring cell carcinoma of the pancreas" EXACT [NCIT:C5720]
xref: DOID:3497 {source="MONDO:equivalentTo"}
xref: MEDGEN:233834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5720 {source="DOID:3497", source="MONDO:equivalentTo"}
xref: UMLS:C1335317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233834"}
is_a: MONDO:0005092 {source="DOID:3497", source="MONDO:Redundant", source="NCIT:C5720"} ! signet ring cell carcinoma
is_a: MONDO:0005184 {source="DOID:3497", source="NCIT:C5720"} ! pancreatic ductal adenocarcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0002667
name: gallbladder signet ring cell adenocarcinoma
def: "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells." [NCIT:C5745]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gall bladder signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder signet Ring cell carcinoma" EXACT [NCIT:C5745]
synonym: "signet Ring cell carcinoma of gallbladder" EXACT [NCIT:C5745]
synonym: "signet Ring cell carcinoma of the gallbladder" EXACT [DOID:3499, NCIT:C5745]
xref: DOID:3499 {source="MONDO:equivalentTo"}
xref: MEDGEN:232228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5745 {source="DOID:3499", source="MONDO:equivalentTo"}
xref: UMLS:C1333758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232228"}
is_a: MONDO:0005092 {source="DOID:3499", source="MONDO:Redundant", source="NCIT:C5745"} ! signet ring cell carcinoma
is_a: MONDO:0006215 {source="DOID:3499", source="MONDO:Redundant", source="NCIT:C5745"} ! gallbladder adenocarcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0002668
name: obsolete gallbladder adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006215

[Term]
id: MONDO:0002669
name: ampullary signet ring cell adenocarcinoma
def: "An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ampulla of Vater signet Ring cell carcinoma" EXACT [NCIT:C6656]
synonym: "ampullary signet Ring cell carcinoma" EXACT [NCIT:C6656]
synonym: "ampullary signet ring cell carcinoma" EXACT [DOID:3501]
xref: DOID:3501 {source="MONDO:equivalentTo"}
xref: MEDGEN:231057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6656 {source="MONDO:equivalentTo", source="DOID:3501"}
xref: UMLS:C1332249 {source="MEDGEN:231057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002670 {source="DOID:3501", source="NCIT:C6656"} ! ampulla of vater adenocarcinoma
is_a: MONDO:0005092 {source="MONDO:Redundant", source="NCIT:C6656"} ! signet ring cell carcinoma

[Term]
id: MONDO:0002670
name: ampulla of vater adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of ampulla of Vater" EXACT [NCIT:C6650]
synonym: "adenocarcinoma of ampulla of vater" RELATED [DOID:3502]
synonym: "ampulla of Vater adenocarcinoma" EXACT [NCIT:C6650]
synonym: "ampullary adenocarcinoma" EXACT [DOID:3502, NCIT:C6650]
synonym: "hepatopancreatic ampulla adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "invasive adenocarcinoma of the ampullary region" EXACT [NCIT:C6650]
xref: DOID:3502 {source="MONDO:equivalentTo"}
xref: EFO:0008490 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:231054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6650 {source="DOID:3502", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332243 {source="MEDGEN:231054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:3502/inferred", source="MONDO:Redundant", source="NCIT:C6650"} ! adenocarcinoma
is_a: MONDO:0006186 {source="DOID:3502", source="MONDO:Entailed", source="MONDO:Redundant"} ! duodenal adenocarcinoma
is_a: MONDO:0017590 {source="DOID:3502", source="EFO:0008490", source="MONDO:Redundant", source="NCIT:C6650"} ! carcinoma of the ampulla of vater
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla

[Term]
id: MONDO:0002671
name: signet ring cell breast carcinoma
def: "An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance." [NCIT:C5175]
synonym: "breast carcinoma with signet ring" RELATED [ONCOTREE:BRSRCC]
synonym: "breast signet ring cell adenocarcinoma" RELATED [DOID:3503]
synonym: "breast signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "mammary signet Ring cell carcinoma" EXACT [DOID:3503, NCIT:C5175]
synonym: "primary mammary signet Ring cell carcinoma" EXACT [NCIT:C5175]
synonym: "primary signet Ring cell breast carcinoma" EXACT [NCIT:C5175]
synonym: "primary signet Ring cell carcinoma of breast" EXACT [NCIT:C5175]
synonym: "primary signet Ring cell carcinoma of the breast" EXACT [NCIT:C5175]
synonym: "primary SRC breast carcinoma" EXACT [NCIT:C5175]
synonym: "primary SRC carcinoma of breast" EXACT [NCIT:C5175]
synonym: "primary SRC carcinoma of the breast" EXACT [NCIT:C5175]
synonym: "signet Ring cell breast carcinoma" EXACT [NCIT:C5175]
synonym: "signet Ring cell carcinoma of breast" EXACT [NCIT:C5175]
synonym: "signet ring cell carcinoma of breast" RELATED [DOID:3503]
synonym: "signet Ring cell carcinoma of the breast" EXACT [NCIT:C5175]
synonym: "SRC breast carcinoma" EXACT [NCIT:C5175]
synonym: "SRC carcinoma of breast" EXACT [NCIT:C5175]
synonym: "SRC carcinoma of the breast" EXACT [NCIT:C5175]
xref: DOID:3503 {source="MONDO:equivalentTo"}
xref: MEDGEN:236816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5175 {source="MONDO:equivalentTo", source="DOID:3503"}
xref: ONCOTREE:BRSRCC {source="MONDO:equivalentTo"}
xref: UMLS:C1335964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236816"}
is_a: MONDO:0004988 {source="DOID:3503", source="MONDO:Redundant", source="NCIT:C5175"} ! breast adenocarcinoma
is_a: MONDO:0005092 {source="DOID:3503", source="MONDO:Redundant", source="NCIT:C5175"} ! signet ring cell carcinoma
is_a: MONDO:0006256 {source="NCIT:C5175", source="ONCOTREE:BRSRCC"} ! invasive breast carcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002672
name: acinar prostate adenocarcinoma, signet ring variant
def: "A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells." [NCIT:C5535]
synonym: "acinar prostate adenocarcinoma, signet Ring variant" EXACT [NCIT:C5535]
synonym: "prostate gland signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "prostate signet ring cell adenocarcinoma" RELATED [DOID:3504]
synonym: "prostate signet Ring cell carcinoma" EXACT [NCIT:C5535]
synonym: "prostate signet ring cell carcinoma" EXACT [DOID:3504]
synonym: "signet Ring cell carcinoma of prostate" EXACT [DOID:3504, NCIT:C5535]
synonym: "signet Ring cell carcinoma of the prostate" EXACT [NCIT:C5535]
xref: DOID:3504 {source="MONDO:equivalentTo"}
xref: MEDGEN:1835069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5535 {source="MONDO:equivalentTo", source="DOID:3504"}
xref: UMLS:C5787291 {source="MEDGEN:1835069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002493 {source="NCIT:C5535"} ! prostatic acinar adenocarcinoma
is_a: MONDO:0005082 {source="DOID:3504", source="MONDO:0002672/inferred", source="MONDO:Entailed", source="NCIT:C5535/inferred"} ! prostate adenocarcinoma
is_a: MONDO:0005092 {source="DOID:3504", source="MONDO:Redundant", source="NCIT:C5535"} ! signet ring cell carcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0002673
name: obsolete dermatofibrosarcoma protuberans
is_obsolete: true
replaced_by: MONDO:0011934

[Term]
id: MONDO:0002674
name: stricture or kinking of ureter
xref: DOID:3508 {source="MONDO:equivalentTo"}
xref: ICD9:593.3 {source="DOID:3508"}
xref: MEDGEN:574605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0341728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574605"}
is_a: MONDO:0005240 {source="DOID:3508"} ! kidney disorder

[Term]
id: MONDO:0002675
name: neurofibrosarcoma
def: "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)" [MESH:D018319]
subset: gard_rare {source="GARD:8211", source="MONDO:GARD"}
subset: rare
synonym: "neurosarcoma" EXACT [DOID:3512]
synonym: "neurosarcoma [obs]" EXACT [DOID:3512]
xref: DOID:3512 {source="MONDO:equivalentTo"}
xref: GARD:8211 {source="MONDO:GARD"}
xref: MEDGEN:104927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018319 {source="MONDO:equivalentTo", source="DOID:3512"}
xref: SCTID:19897006 {source="DOID:3512"}
xref: SCTID:404037002 {source="MONDO:relatedTo", source="DOID:3512"}
xref: UMLS:C0206729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104927"}
is_a: MONDO:0016755 {source="DOID:3512", source="MESH:D018319"} ! neurofibroma

[Term]
id: MONDO:0002676
name: adult fibrosarcoma
def: "A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones." [NCIT:C7809]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult fibrosarcoma" EXACT [NCIT:C7809]
synonym: "adult fibrosarcoma (disease)" EXACT []
synonym: "fibrosarcoma" BROAD [NCIT:C7809]
synonym: "fibrosarcoma (disease) of adults" EXACT [MONDO:patterns/adult]
xref: DOID:3516 {source="MONDO:equivalentTo"}
xref: MEDGEN:75840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200060 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7809 {source="MONDO:equivalentTo", source="DOID:3516"}
xref: UMLS:C0278595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75840"}
is_a: MONDO:0002677 {source="NCIT:C7809"} ! conventional fibrosarcoma
is_a: MONDO:0005164 {source="DOID:3516", source="MONDO:Redundant", source="NCIT:C7809", source="NCIT:C7809/inferred"} ! fibrosarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0002677
name: conventional fibrosarcoma
def: "A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern." [NCIT:C9429]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "classic fibrosarcoma" EXACT [NCIT:C9429]
synonym: "classical fibrosarcoma" EXACT [NCIT:C9429]
synonym: "conventional fibrosarcoma" EXACT [NCIT:C9429]
xref: DOID:3517 {source="MONDO:equivalentTo"}
xref: MEDGEN:232393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9429 {source="MONDO:equivalentTo", source="DOID:3517", source="MONDO:exact-label-match"}
xref: UMLS:C1333156 {source="MEDGEN:232393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005164 {source="DOID:3517", source="NCIT:C9429"} ! fibrosarcoma

[Term]
id: MONDO:0002678
name: pediatric fibrosarcoma
def: "A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood fibrosarcoma" EXACT [NCIT:C8088]
synonym: "fibrosarcoma" BROAD [NCIT:C8088]
synonym: "pediatric fibrosarcoma" EXACT [NCIT:C8088]
xref: DOID:3520 {source="MONDO:equivalentTo"}
xref: MEDGEN:124685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200060 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8088 {source="DOID:3520", source="MONDO:equivalentTo"}
xref: UMLS:C0279981 {source="MEDGEN:124685", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005164 {source="DOID:3520", source="NCIT:C8088"} ! fibrosarcoma
is_a: MONDO:0006517 {source="NCIT:C8088"} ! childhood malignant neoplasm
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0002679
name: cerebral infarction
def: "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." [NCIT:C50486]
subset: otar {source="MONDO:OTAR"}
synonym: "brain infarction of telencephalon" EXACT [MONDO:design_pattern]
synonym: "cerebral infarct" EXACT [DOID:3526]
synonym: "cerebral infarction" EXACT [DOID:3526]
synonym: "cerebral infarction NOS" RELATED EXCLUDE [DOID:3526]
synonym: "cerebral ischemia" EXACT [NCIT:C50486]
synonym: "cerebral, infarction" EXACT [NCIT:C50486]
synonym: "CVA - cerebral infarction" EXACT [DOID:3526]
synonym: "infarction, cerebral" EXACT [NCIT:C50486]
synonym: "telencephalon brain infarction" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:3526 {source="MONDO:equivalentTo"}
xref: ICD10CM:I63 {source="DOID:3526"}
xref: ICD10CM:I63.9 {source="DOID:3526"}
xref: ICD9:433.01 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:433.21 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:433.31 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:433.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002544 {source="MONDO:equivalentTo", source="DOID:3526"}
xref: NCIT:C50486 {source="MONDO:equivalentTo", source="DOID:3526"}
xref: SCTID:155405006 {source="DOID:3526"}
xref: SCTID:195188006 {source="DOID:3526"}
xref: SCTID:195191006 {source="DOID:3526"}
xref: SCTID:20059004 {source="DOID:3526", source="MONDO:directSiblingOf"}
xref: SCTID:266256009 {source="DOID:3526"}
xref: SCTID:266315008 {source="DOID:3526"}
xref: SCTID:432504007 {source="MONDO:equivalentTo", source="DOID:3526"}
xref: UMLS:C0007785 {source="MEDGEN:3321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005394 {source="DOID:3526", source="MESH:D002544", source="MONDO:Redundant"} ! brain infarction
is_a: MONDO:0011057 {source="DOID:3526/inferred", source="MESH:D002544/inferred", source="MONDO:Redundant", source="NCIT:C50486"} ! cerebrovascular disorder
intersection_of: MONDO:0005394 ! brain infarction
intersection_of: disease_has_location UBERON:0001893 ! telencephalon

[Term]
id: MONDO:0002680
name: chronic wasting disease
def: "A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions)." [MESH:D034081]
xref: DOID:3530 {source="MONDO:equivalentTo"}
xref: MESH:D034081 {source="DOID:3530", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D034081"} ! non-human animal disease
is_a: MONDO:0700108 ! prion disease, non-human animal
relationship: in_taxon NCBITaxon:9850 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Cervidae

[Term]
id: MONDO:0002681
name: choroid plexus cancer
def: "A malignant neoplasm involving the choroid plexus" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of choroid plexus" EXACT [MONDO:patterns/cancer]
synonym: "choroid plexus cancer" EXACT [MONDO:patterns/location]
synonym: "choroid plexus neoplasm" BROAD [DOID:3540]
synonym: "malignant choroid plexus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4533]
synonym: "malignant choroid plexus neoplasms" EXACT [NCIT:C4533]
synonym: "malignant choroid plexus tumor" EXACT [NCIT:C4533]
synonym: "malignant choroid plexus tumors" EXACT [NCIT:C4533]
synonym: "malignant choroid plexus tumour" EXACT OMO:0003005 []
synonym: "malignant choroid plexus tumours" EXACT OMO:0003005 []
synonym: "malignant neoplasm of choroid plexus" EXACT [MONDO:patterns/cancer, NCIT:C4533]
synonym: "malignant neoplasm of the choroid plexus" EXACT [NCIT:C4533]
synonym: "malignant tumor of choroid plexus" EXACT [NCIT:C4533]
synonym: "malignant tumor of the choroid plexus" EXACT [NCIT:C4533]
synonym: "malignant tumour of choroid plexus" EXACT OMO:0003005 []
synonym: "malignant tumour of the choroid plexus" EXACT OMO:0003005 []
synonym: "tumor of choroid plexus" BROAD [DOID:3540]
synonym: "tumor of the choroid plexus" BROAD EXCLUDE [DOID:3540]
synonym: "tumour of choroid plexus" BROAD OMO:0003005 []
synonym: "tumour of the choroid plexus" BROAD OMO:0003005 []
xref: DOID:3540 {source="MONDO:equivalentTo"}
xref: EFO:0007206 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:138053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016545 {source="DOID:3540"}
xref: NCIT:C3473 {source="DOID:3540"}
xref: NCIT:C4533 {source="MONDO:equivalentTo"}
xref: SCTID:254942002 {source="DOID:3540"}
xref: UMLS:C0346289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138053"}
is_a: MONDO:0001657 {source="DOID:3540/inferred", source="MONDO:Redundant", source="NCIT:C4533"} ! brain cancer
is_a: MONDO:0016717 {source="NCIT:C4533"} ! choroid plexus neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001886 ! choroid plexus
property_value: IAO:0000233 "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16" xsd:anyURI

[Term]
id: MONDO:0002682
name: cerebral ventricle cancer
def: "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure." [NCIT:C2937]
synonym: "brain neoplasms, intraventricular" EXACT [NCIT:C2937]
synonym: "brain ventricle cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of brain ventricle" EXACT [MONDO:patterns/cancer]
synonym: "cerebral ventricle neoplasm" EXACT [DOID:3541]
synonym: "intraventricular brain neoplasm" EXACT [NCIT:C2937]
synonym: "intraventricular brain neoplasms" EXACT [NCIT:C2937]
synonym: "intraventricular brain tumor" EXACT [NCIT:C2937]
synonym: "intraventricular brain tumour" EXACT OMO:0003005 []
synonym: "intraventricular neoplasm of brain" EXACT [NCIT:C2937]
synonym: "intraventricular neoplasm of the brain" EXACT [NCIT:C2937]
synonym: "intraventricular neoplasms" EXACT [NCIT:C2937]
synonym: "intraventricular tumor of brain" EXACT [DOID:3541, NCIT:C2937]
synonym: "intraventricular tumor of the brain" EXACT [NCIT:C2937]
synonym: "intraventricular tumour of brain" EXACT OMO:0003005 []
synonym: "intraventricular tumour of the brain" EXACT OMO:0003005 []
synonym: "malignant brain ventricle neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of brain ventricle" EXACT [MONDO:patterns/cancer]
xref: DOID:3541 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71.5 {source="DOID:3541"}
xref: ICD9:191.5 {source="DOID:3541"}
xref: MEDGEN:3325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002551 {source="DOID:3541", source="MONDO:equivalentTo"}
xref: NCIT:C2937 {source="DOID:3541", source="MONDO:equivalentTo"}
xref: SCTID:126958000 {source="DOID:3541", source="MONDO:equivalentTo"}
xref: SCTID:188294008 {source="DOID:3541"}
xref: SCTID:363471001 {source="DOID:3541"}
xref: SCTID:93748005 {source="DOID:3541"}
xref: UMLS:C0007798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3325"}
is_a: MONDO:0021211 {source="NCIT:C2937"} ! brain neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0004086 ! brain ventricle
relationship: excluded_subClassOf MONDO:0002731 {source="DOID:3541", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral hemisphere cancer
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6025/cerebral-ventricle-cancer" xsd:anyURI {source="GARD:0006025"}

[Term]
id: MONDO:0002683
name: adult choroid plexus neoplasm
def: "A choroid plexus neoplasm that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult choroid plexus cancer" RELATED [DOID:3542]
synonym: "adult choroid plexus neoplasm" EXACT [NCIT:C8568]
synonym: "adult choroid plexus tumor" EXACT [DOID:3542, NCIT:C8568]
synonym: "adult choroid plexus tumour" EXACT OMO:0003005 []
synonym: "choroid plexus neoplasm" BROAD [NCIT:C8568]
synonym: "choroid plexus neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "neoplasm of adult choroid plexus" EXACT [NCIT:C8568]
synonym: "neoplasm of the adult choroid plexus" EXACT [DOID:3542, NCIT:C8568]
synonym: "tumor of adult choroid plexus" EXACT [NCIT:C8568]
synonym: "tumor of the adult choroid plexus" EXACT [NCIT:C8568]
synonym: "tumour of adult choroid plexus" EXACT OMO:0003005 []
synonym: "tumour of the adult choroid plexus" EXACT OMO:0003005 []
xref: DOID:3542 {source="MONDO:equivalentTo"}
xref: MEDGEN:163268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8568 {source="DOID:3542", source="MONDO:equivalentTo"}
xref: UMLS:C0796430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163268"}
is_a: MONDO:0016717 {source="MONDO:Redundant", source="NCIT:C8568"} ! choroid plexus neoplasm
intersection_of: MONDO:0016717 ! choroid plexus neoplasm
intersection_of: has_characteristic HP:0003581 ! Adult onset
relationship: excluded_subClassOf MONDO:0002681 {source="DOID:3542", source="https://orcid.org/0000-0001-5208-3432"} ! choroid plexus cancer

[Term]
id: MONDO:0002684
name: atypical choroid plexus papilloma
def: "A choroid plexus papilloma characterized by increased mitotic activity." [NCIT:C53686]
subset: gard_rare {source="GARD:20723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251902"}
subset: orphanet_rare {source="Orphanet:251902"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACPP" RELATED ABBREVIATION [ONCOTREE:ACPP]
synonym: "atypical choroid plexus papilloma" EXACT [DOID:3544, NCIT:C53686, NCIT:C8382, Orphanet:251902]
synonym: "atypical choroid plexus papilloma (morphologic abnormality)" EXACT [DOID:3544]
synonym: "atypical CPP" EXACT [Orphanet:251902]
synonym: "atypical papilloma of choroid plexus" EXACT [MONDO:0016720]
xref: DOID:3544 {source="MONDO:equivalentTo"}
xref: GARD:20723 {source="MONDO:GARD"}
xref: ICD10CM:C71.5 {source="Orphanet:251902/ntbt", source="Orphanet:251902"}
xref: ICDO:9390/1 {source="NCIT:C53686"}
xref: MEDGEN:220431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53686 {source="DOID:3544", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:ACPP {source="MONDO:equivalentTo"}
xref: Orphanet:251902 {source="MONDO:equivalentTo"}
xref: SCTID:128904001 {source="DOID:3544"}
xref: UMLS:C1266176 {source="MEDGEN:220431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016717 {source="NCIT:C53686", source="ONCOTREE:ACPP", source="Orphanet:251902"} ! choroid plexus neoplasm

[Term]
id: MONDO:0002685
name: childhood choroid plexus carcinoma
def: "A choroid plexus carcinoma that occurs during childhood." [NCIT:C124292]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood choroid plexus cancer" RELATED [DOID:3545]
synonym: "childhood choroid plexus carcinoma" EXACT [NCIT:C124292]
synonym: "childhood choroid plexus neoplasm" BROAD [DOID:3545]
synonym: "choroid plexus carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric choroid plexus carcinoma" EXACT OMO:0003005 []
synonym: "pediatric choroid plexus carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:3545 {source="MONDO:equivalentTo"}
xref: MEDGEN:901899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124292 {source="MONDO:equivalentTo"}
xref: NCIT:C42080 {source="DOID:3545"}
xref: UMLS:C1510426 {source="MEDGEN:901899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002071 {source="DOID:3545/inferred", source="NCIT:C124292"} ! supratentorial cancer
is_a: MONDO:0002681 {source="DOID:3545", source="MONDO:0002685/inferred", source="NCIT:C124292/inferred"} ! choroid plexus cancer
is_a: MONDO:0024744 {source="MONDO:Redundant", source="NCIT:C124292"} ! childhood choroid plexus neoplasm
intersection_of: MONDO:0016718 ! choroid plexus carcinoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0002686
name: obsolete mast-cell sarcoma
is_obsolete: true
replaced_by: MONDO:0019024

[Term]
id: MONDO:0002687
name: superior mesenteric artery syndrome
def: "Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment." [https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome]
subset: gard_rare {source="GARD:7712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1955"}
subset: ordo_disorder {source="Orphanet:622099"}
subset: orphanet_rare {source="Orphanet:622099"}
subset: rare
synonym: "Arteriomesenteric duodenal compression syndrome" RELATED [GARD:0007712]
synonym: "Cast syndrome" RELATED [GARD:0007712]
synonym: "superior mesenteric artery syndrome" EXACT [DOID:3557]
synonym: "superior mesenteric artery syndromic disease" EXACT [MONDO:patterns/location]
synonym: "syndromic disease of superior mesenteric artery" EXACT [MONDO:design_pattern]
synonym: "vascular compression of the duodenum" RELATED [GARD:0007712]
synonym: "Wilkie syndrome" RELATED [GARD:0007712]
xref: DOID:3557 {source="MONDO:equivalentTo"}
xref: GARD:7712 {source="MONDO:GARD"}
xref: MEDGEN:21404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013478 {source="DOID:3557", source="MONDO:equivalentTo"}
xref: NCIT:C85175 {source="DOID:3557", source="MONDO:equivalentTo"}
xref: NORD:1955 {source="MONDO:NORD"}
xref: Orphanet:622099 {source="MONDO:equivalentTo"}
xref: SCTID:197006009 {source="DOID:3557", source="MONDO:equivalentTo"}
xref: SCTID:24988007 {source="DOID:3557"}
xref: UMLS:C0038828 {source="MEDGEN:21404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:3557", source="MONDO:Redundant", source="NCIT:C85175"} ! syndromic disease
is_a: MONDO:0002688 {source="DOID:3557", source="EFO:1001201", source="MESH:D013478"} ! duodenal obstruction
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_location UBERON:0001182 ! superior mesenteric artery
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome" xsd:anyURI {source="GARD:0007712"}

[Term]
id: MONDO:0002688
name: duodenal obstruction
def: "Blockage of the normal flow of stomach contents through the duodenum." [NCIT:P378]
xref: DOID:3558 {source="MONDO:equivalentTo"}
xref: ICD10CM:K31.5 {source="DOID:3558"}
xref: MEDGEN:4417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004380 {source="MONDO:equivalentTo", source="DOID:3558"}
xref: NCIT:C79548 {source="MONDO:otherHierarchy", source="DOID:3558"}
xref: SCTID:95532008 {source="MONDO:equivalentTo", source="DOID:3558"}
xref: UMLS:C0013292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4417"}
is_a: MONDO:0002866 {source="DOID:3558", source="MESH:D004380"} ! duodenal disorder
is_a: MONDO:0004565 {source="DOID:3558", source="MESH:D004380"} ! intestinal obstruction

[Term]
id: MONDO:0002689
name: obsolete pseudomyxoma peritonei
is_obsolete: true
replaced_by: MONDO:0017048

[Term]
id: MONDO:0002690
name: obsolete meningioma
is_obsolete: true
replaced_by: MONDO:0016642

[Term]
id: MONDO:0002691
name: liver cancer
def: "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma." [NCIT:C34803]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca liver - primary" EXACT [DOID:3571]
synonym: "ca liver - primary" EXACT [DOID:3571]
synonym: "cancer of liver" EXACT [MONDO:patterns/cancer]
synonym: "hepatic cancer" EXACT [DOID:3571]
synonym: "hepatic neoplasm" EXACT [DOID:3571]
synonym: "liver cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hepato-biliary neoplasm" EXACT [DOID:3571]
synonym: "malignant liver neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of liver" EXACT [DOID:3571, MONDO:patterns/cancer]
synonym: "malignant neoplasm of liver, not specified as primary or secondary" EXACT [DOID:3571, ICD9CM:155.2]
synonym: "malignant neoplasm of liver, primary" EXACT [DOID:3571, ICD9CM:155.0]
synonym: "malignant tumor of liver" EXACT [DOID:3571]
synonym: "malignant tumour of liver" EXACT OMO:0003005 []
synonym: "neoplasm of liver" RELATED EXCLUDE [DOID:3571]
synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [DOID:3571]
synonym: "primary cancer of liver" RELATED [GARD:0006608]
synonym: "primary liver cancer" EXACT [DOID:3571]
synonym: "primary malignant liver neoplasm" EXACT [NCIT:C34803]
synonym: "primary malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C34803]
synonym: "primary tumor of the liver" RELATED [GARD:0006608]
synonym: "primary tumour of the liver" RELATED OMO:0003005 []
synonym: "Resectable malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C7692]
synonym: "resectable malignant neoplasm of the liver" EXACT [DOID:3571]
xref: DOID:3571 {source="MONDO:equivalentTo"}
xref: ICD10CM:C22.0 {source="DOID:3571"}
xref: ICD10CM:C22.9 {source="DOID:3571"}
xref: ICD9:155.0 {source="DOID:3571"}
xref: ICD9:155.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3571"}
xref: MEDGEN:87520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008113 {source="DOID:3571"}
xref: NCIT:C34803 {source="MONDO:equivalentTo", source="DOID:3571"}
xref: NCIT:C7692 {source="DOID:3571"}
xref: SCTID:126851005 {source="DOID:3571"}
xref: SCTID:154470007 {source="DOID:3571"}
xref: SCTID:187768001 {source="DOID:3571"}
xref: SCTID:187771009 {source="DOID:3571"}
xref: SCTID:187779006 {source="DOID:3571"}
xref: SCTID:269548006 {source="DOID:3571"}
xref: SCTID:363361004 {source="DOID:3571"}
xref: SCTID:93870000 {source="MONDO:equivalentTo", source="DOID:3571"}
xref: SCTID:95214007 {source="DOID:3571"}
xref: UMLS:C0345904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87520"}
is_a: MONDO:0002516 {source="DOID:3571", source="MONDO:Redundant", source="NCIT:C34803/inferred"} ! digestive system cancer
is_a: MONDO:0005154 {source="DOID:3571", source="MONDO:Redundant", source="NCIT:C34803/inferred"} ! liver disorder
is_a: MONDO:0024477 {source="NCIT:C34803"} ! liver and intrahepatic bile duct neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002107 ! liver
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain

[Term]
id: MONDO:0002692
name: intracranial sinus thrombosis
def: "Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects." [MESH:D012851]
xref: DOID:3572 {source="MONDO:equivalentTo"}
xref: MEDGEN:20771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012851 {source="DOID:3572", source="MONDO:equivalentTo"}
xref: UMLS:C0037198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20771"}
is_a: MONDO:0002907 {source="DOID:3572", source="MESH:D012851"} ! intracranial thrombosis

[Term]
id: MONDO:0002693
name: lateral sinus thrombosis
def: "Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure." [MESH:D020227]
synonym: "thrombosis of lateral venous sinus" EXACT [DOID:3574]
synonym: "thrombosis transverse sinus" EXACT [DOID:3574]
xref: DOID:3574 {source="MONDO:equivalentTo"}
xref: MEDGEN:124359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020227 {source="DOID:3574", source="MONDO:equivalentTo"}
xref: SCTID:192761004 {source="DOID:3574", source="MONDO:equivalentTo"}
xref: SCTID:21258007 {source="DOID:3574"}
xref: UMLS:C0270639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124359"}
is_a: MONDO:0002692 {source="DOID:3574", source="MESH:D020227"} ! intracranial sinus thrombosis

[Term]
id: MONDO:0002694
name: cavernous sinus thrombosis
def: "Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)" [MESH:D020226]
synonym: "thrombosis of cavernous venous sinus" EXACT [DOID:3575]
xref: DOID:3575 {source="MONDO:equivalentTo"}
xref: MEDGEN:65970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020226 {source="DOID:3575", source="MONDO:equivalentTo"}
xref: SCTID:89980009 {source="DOID:3575", source="MONDO:equivalentTo"}
xref: UMLS:C0238454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65970"}
is_a: MONDO:0002692 {source="DOID:3575", source="MESH:D020226"} ! intracranial sinus thrombosis

[Term]
id: MONDO:0002695
name: sagittal sinus thrombosis
def: "Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma." [MESH:D020225]
synonym: "thrombosis of superior longitudinal sinus" EXACT [DOID:3576]
synonym: "thrombosis of superior sagittal sinus" EXACT [DOID:3576]
xref: DOID:3576 {source="MONDO:equivalentTo"}
xref: MEDGEN:90927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020225 {source="DOID:3576", source="MONDO:equivalentTo"}
xref: SCTID:192760003 {source="DOID:3576", source="MONDO:equivalentTo"}
xref: SCTID:70607008 {source="DOID:3576"}
xref: UMLS:C0338575 {source="MEDGEN:90927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002692 {source="DOID:3576", source="MESH:D020225"} ! intracranial sinus thrombosis

[Term]
id: MONDO:0002696
name: Sertoli cell tumor
def: "A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course." [NCIT:C39976]
synonym: "Sertoli cell tumor" EXACT [NCIT:C39976]
synonym: "tubular androblastoma" EXACT [DOID:3577]
synonym: "tubular androblastoma NOS (morphologic abnormality)" EXACT [DOID:3577]
xref: DOID:3577 {source="MONDO:equivalentTo"}
xref: ICDO:8630/1 {source="NCIT:C39976"}
xref: ICDO:8640/1 {source="NCIT:C39976"}
xref: MEDGEN:11387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012707 {source="DOID:3577", source="MONDO:equivalentTo"}
xref: NCIT:C39976 {source="DOID:3577", source="MONDO:equivalentTo", source="NCIT:C39976"}
xref: SCTID:128857001 {source="DOID:3577"}
xref: SCTID:189738002 {source="DOID:3577"}
xref: SCTID:89089007 {source="DOID:3577"}
xref: UMLS:C0036769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11387"}
is_a: MONDO:0006055 {source="DOID:3577/inferred", source="NCIT:C39976"} ! sex cord-stromal tumor

[Term]
id: MONDO:0002697
name: ovarian gonadoblastoma
def: "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." [NCIT:C39985]
subset: gard_rare {source="GARD:17100", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206484"}
subset: orphanet_rare {source="Orphanet:206484"}
subset: rare
synonym: "GBY" BROAD ABBREVIATION [OMIM:424500]
synonym: "gonadoblastoma" BROAD [OMIM:424500]
synonym: "gonadoblastoma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian gonadoblastoma" EXACT [MONDO:ambiguous, NCIT:C39985]
synonym: "ovarian gonadoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "ovary gonadoblastoma" EXACT [MONDO:patterns/location]
xref: DOID:3578 {source="MONDO:equivalentTo"}
xref: GARD:17100 {source="MONDO:GARD"}
xref: HP:0000149 {source="MONDO:otherHierarchy"}
xref: MEDGEN:309510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39985 {source="MONDO:equivalentTo", source="DOID:3578"}
xref: OMIM:424500 {source="Orphanet:206484/e", source="DOID:3301", source="MONDO:equivalentTo", source="Orphanet:206484"}
xref: Orphanet:206484 {source="MONDO:equivalentTo", source="OMIM:424500"}
xref: SCTID:716594002 {source="MONDO:equivalentTo"}
xref: UMLS:C1518716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309510"}
is_a: MONDO:0010768 {source="DOID:3578", source="MONDO:Redundant", source="NCIT:C39985"} ! gonadoblastoma
intersection_of: MONDO:0010768 ! gonadoblastoma
intersection_of: disease_has_location UBERON:0000992 ! ovary
property_value: IAO:0000589 "ovarian gonadoblastoma (disease)" xsd:string

[Term]
id: MONDO:0002698
name: testicular gonadoblastoma
def: "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells." [NCIT:C39911]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gonadoblastoma of testis" EXACT [MONDO:design_pattern]
synonym: "testicular gonadoblastoma" EXACT [MONDO:ambiguous, NCIT:C39911]
synonym: "testicular gonadoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "testis gonadoblastoma" EXACT [MONDO:patterns/location]
xref: DOID:3579 {source="MONDO:equivalentTo"}
xref: HP:0000030 {source="MONDO:otherHierarchy"}
xref: MEDGEN:272839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39911 {source="DOID:3579", source="MONDO:equivalentTo", source="NCIT:C39911"}
xref: UMLS:C1515283 {source="MONDO:equivalentTo", source="MEDGEN:272839", source="MONDO:MEDGEN"}
is_a: MONDO:0006055 {source="https://www.ncbi.nlm.nih.gov/books/NBK558916"} ! sex cord-stromal tumor
is_a: MONDO:0010768 {source="DOID:3579", source="MONDO:Redundant", source="NCIT:C39911"} ! gonadoblastoma
intersection_of: MONDO:0010768 ! gonadoblastoma
intersection_of: disease_has_location UBERON:0000473 ! testis
property_value: IAO:0000589 "testicular gonadoblastoma (disease)" xsd:string

[Term]
id: MONDO:0002699
name: obsolete pancreatic ductal carcinoma
is_obsolete: true
replaced_by: MONDO:0005184

[Term]
id: MONDO:0002700
name: obsolete epithelioid trophoblastic tumor
is_obsolete: true
replaced_by: MONDO:0016787

[Term]
id: MONDO:0002701
name: ovarian mucinous cystadenocarcinoma
def: "An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis." [NCIT:C4026]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mucinous cystadenocarcinoma of ovary" EXACT [NCIT:C4026]
synonym: "mucinous cystadenocarcinoma of the ovary" EXACT [NCIT:C4026]
synonym: "ovarian mucinous cystadenocarcinoma" EXACT [DOID:3604, NCIT:C4026]
synonym: "ovary mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3604 {source="MONDO:equivalentTo"}
xref: EFO:1001963 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4026 {source="MONDO:equivalentTo", source="DOID:3604", source="MONDO:exact-label-match"}
xref: SCTID:254851009 {source="MONDO:equivalentTo", source="DOID:3604"}
xref: UMLS:C0279665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76011"}
is_a: MONDO:0002702 {source="DOID:3604", source="MONDO:Redundant", source="NCIT:C4026"} ! ovarian cystadenocarcinoma
is_a: MONDO:0005601 {source="MONDO:Redundant", source="NCIT:C4026"} ! ovarian mucinous adenocarcinoma
is_a: MONDO:0005858 {source="EFO:1001963", source="MONDO:Redundant", source="NCIT:C4026"} ! mucinous cystadenocarcinoma
intersection_of: MONDO:0005858 ! mucinous cystadenocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0002702
name: ovarian cystadenocarcinoma
def: "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." [NCIT:C5228]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cystadenocarcinoma of ovary" EXACT [NCIT:C5228]
synonym: "cystadenocarcinoma of the ovary" EXACT [DOID:3605, NCIT:C5228]
synonym: "ovarian cystadenocarcinoma" EXACT [NCIT:C5228]
synonym: "ovary cystadenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3605 {source="MONDO:equivalentTo"}
xref: EFO:1001962 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:242756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5228 {source="MONDO:equivalentTo", source="DOID:3605", source="MONDO:exact-label-match"}
xref: SCTID:314191009 {source="MONDO:equivalentTo", source="DOID:3605"}
xref: UMLS:C1096638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:242756"}
is_a: MONDO:0002752 {source="DOID:3605", source="EFO:1001962", source="MONDO:Redundant", source="NCIT:C5228"} ! ovarian adenocarcinoma
is_a: MONDO:0005596 {source="MONDO:Redundant", source="NCIT:C5228"} ! cystadenocarcinoma
intersection_of: MONDO:0005596 ! cystadenocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0002703
name: appendix mucinous cystadenocarcinoma
def: "An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures." [NCIT:C5511]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "appendiceal colloid cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendiceal colloidal cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendiceal mucinous cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendix colloid cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendix colloidal cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "appendix mucinous cystadenocarcinoma" EXACT [NCIT:C5511]
synonym: "colloid cystadenocarcinoma of appendix" EXACT [NCIT:C5511]
synonym: "colloid cystadenocarcinoma of the appendix" EXACT [NCIT:C5511]
synonym: "colloidal cystadenocarcinoma of appendix" EXACT [NCIT:C5511]
synonym: "colloidal cystadenocarcinoma of the appendix" EXACT [DOID:3607, NCIT:C5511]
synonym: "mucinous cystadenocarcinoma of appendix" EXACT [NCIT:C5511]
synonym: "mucinous cystadenocarcinoma of the appendix" EXACT [NCIT:C5511]
synonym: "vermiform appendix mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3607 {source="MONDO:equivalentTo"}
xref: MEDGEN:204256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5511 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3607"}
xref: UMLS:C1096639 {source="MEDGEN:204256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005858 {source="DOID:3607", source="MONDO:Redundant", source="NCIT:C5511"} ! mucinous cystadenocarcinoma
is_a: MONDO:0006087 {source="DOID:3607", source="MONDO:Redundant", source="NCIT:C5511/inferred"} ! appendix adenocarcinoma
is_a: MONDO:0018330 {source="MONDO:Redundant", source="NCIT:C5511"} ! mucinous adenocarcinoma of the appendix
intersection_of: MONDO:0005858 ! mucinous cystadenocarcinoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0002704
name: obsolete appendix adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006087

[Term]
id: MONDO:0002705
name: breast mucinous cystadenocarcinoma
def: "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified." [NCIT:C40354]
synonym: "breast mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40354]
xref: DOID:3609 {source="MONDO:equivalentTo"}
xref: MEDGEN:267769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40354 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3609"}
xref: UMLS:C1511318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267769"}
is_a: MONDO:0004988 {source="DOID:3609/inferred", source="MONDO:Redundant", source="NCIT:C40354"} ! breast adenocarcinoma
is_a: MONDO:0005858 {source="DOID:3609", source="MONDO:Redundant", source="NCIT:C40354"} ! mucinous cystadenocarcinoma
intersection_of: MONDO:0005858 ! mucinous cystadenocarcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast
relationship: excluded_subClassOf MONDO:0002707 {source="DOID:3609", source="https://orcid.org/0000-0001-5208-3432"} ! breast mucinous carcinoma

[Term]
id: MONDO:0002706
name: cervix endometriosis
def: "Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding." [NCIT:C27623]
synonym: "cervical endometriosis" EXACT [DOID:361, NCIT:C27623]
synonym: "endometriosis (disease) of uterine cervix" EXACT []
synonym: "endometriosis of cervix" EXACT [DOID:361]
synonym: "uterine cervix endometriosis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:361 {source="MONDO:equivalentTo"}
xref: MEDGEN:78705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27623 {source="MONDO:equivalentTo", source="DOID:361"}
xref: SCTID:61640006 {source="MONDO:equivalentTo", source="DOID:361"}
xref: UMLS:C0269107 {source="MEDGEN:78705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002256 {source="DOID:361", source="MONDO:Redundant", source="NCIT:C27623/inferred"} ! cervix disorder
is_a: MONDO:0005133 {source="MONDO:Redundant", source="NCIT:C27623"} ! endometriosis
intersection_of: MONDO:0005133 ! endometriosis
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0002707
name: breast mucinous carcinoma
def: "An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis." [NCIT:P378]
synonym: "breast invasive mixed mucinous carcinoma" RELATED [ONCOTREE:IMMC]
synonym: "breast mucinous carcinoma" EXACT [NCIT:C9131]
synonym: "colloid breast carcinoma" EXACT [NCIT:C9131]
synonym: "colloid carcinoma of breast" EXACT [NCIT:C9131]
synonym: "colloid carcinoma of the breast" EXACT [NCIT:C9131]
synonym: "infiltrating colloid breast carcinoma" EXACT [NCIT:C9131]
synonym: "infiltrating mucinous breast carcinoma" EXACT [NCIT:C9131]
synonym: "invasive colloid breast carcinoma" EXACT [NCIT:C9131]
synonym: "invasive mucinous breast carcinoma" EXACT [DOID:3610, NCIT:C9131]
synonym: "mucinous breast cancer" EXACT [NCIT:C9131]
synonym: "mucinous breast carcinoma" EXACT [NCIT:C9131]
synonym: "mucinous carcinoma of breast" EXACT [DOID:3610, NCIT:C9131]
synonym: "mucinous carcinoma of the breast" EXACT [NCIT:C9131]
xref: DOID:3610 {source="MONDO:equivalentTo"}
xref: MEDGEN:235337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9131 {source="DOID:3610", source="MONDO:equivalentTo"}
xref: ONCOTREE:IMMC {source="MONDO:equivalentTo"}
xref: SCTID:444712000 {source="DOID:3610", source="MONDO:equivalentTo"}
xref: UMLS:C1334807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235337"}
is_a: MONDO:0004957 {source="NCIT:C9131"} ! mucinous adenocarcinoma
is_a: MONDO:0004988 {source="DOID:3610", source="MONDO:Redundant", source="NCIT:C9131/inferred"} ! breast adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C9131"} ! breast ductal adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C9131", source="ONCOTREE:IMMC"} ! invasive breast carcinoma

[Term]
id: MONDO:0002708
name: retinitis
def: "Inflammation of the retina." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammation of retina" EXACT []
synonym: "retina inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:3612 {source="MONDO:equivalentTo"}
xref: ICD10CM:H30.9 {source="DOID:3612"}
xref: MEDGEN:19765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012173 {source="DOID:3612", source="MONDO:equivalentTo"}
xref: NCIT:C115993 {source="DOID:3612", source="MONDO:equivalentTo"}
xref: SCTID:193450000 {source="DOID:3612"}
xref: SCTID:35426003 {source="DOID:3612"}
xref: SCTID:399463004 {source="DOID:3612", source="MONDO:equivalentTo"}
xref: UMLS:C0035333 {source="MEDGEN:19765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005283 {source="DOID:3612", source="MESH:D012173", source="MONDO:Redundant"} ! retinal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000966 ! retina

[Term]
id: MONDO:0002709
name: obsolete Kallmann syndrome
is_obsolete: true
replaced_by: MONDO:0018800

[Term]
id: MONDO:0002710
name: infiltrating angiolipoma
def: "An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue." [NCIT:P378]
synonym: "angiolipoma, infiltrating" EXACT [DOID:3615]
synonym: "angiolipoma, infiltrating (morphologic abnormality)" EXACT [DOID:3615]
synonym: "infiltrating angiolipoma" EXACT [DOID:3615]
xref: DOID:3615 {source="MONDO:equivalentTo"}
xref: MEDGEN:227009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7449 {source="MONDO:equivalentTo", source="DOID:3615"}
xref: SCTID:189781004 {source="DOID:3615"}
xref: SCTID:24045002 {source="DOID:3615"}
xref: UMLS:C1305256 {source="MEDGEN:227009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006085 {source="DOID:3615", source="NCIT:C7449"} ! angiolipoma
intersection_of: MONDO:0006085 ! angiolipoma
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0002711
name: obsolete angiolipoma
is_obsolete: true
replaced_by: MONDO:0006085

[Term]
id: MONDO:0002712
name: epidural spinal canal angiolipoma
def: "An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal." [NCIT:P378]
synonym: "angiolipoma of epidural space" EXACT [MONDO:design_pattern]
synonym: "angiolipoma of epidural spinal canal" EXACT [NCIT:C5424]
synonym: "angiolipoma of extradural spinal canal" EXACT [DOID:3617, NCIT:C5424]
synonym: "angiolipoma of the epidural spinal canal" EXACT [NCIT:C5424]
synonym: "angiolipoma of the extradural spinal canal" EXACT [NCIT:C5424]
synonym: "epidural space angiolipoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "extradural spinal canal angiolipoma" EXACT [NCIT:C5424]
xref: DOID:3617 {source="MONDO:equivalentTo"}
xref: MEDGEN:232461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5424 {source="MONDO:equivalentTo", source="DOID:3617"}
xref: UMLS:C1333416 {source="MEDGEN:232461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002713 {source="DOID:3617", source="MONDO:Redundant", source="NCIT:C5424"} ! epidural spinal canal neoplasm
is_a: MONDO:0006085 {source="DOID:3617", source="MONDO:Redundant", source="NCIT:C5424/inferred"} ! angiolipoma
intersection_of: MONDO:0006085 ! angiolipoma
intersection_of: disease_has_location UBERON:0003691 ! epidural space
relationship: excluded_subClassOf MONDO:0001790 {source="DOID:3617", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord lipoma

[Term]
id: MONDO:0002713
name: epidural spinal canal neoplasm
def: "A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord." [NCIT:C3019]
synonym: "epidural neoplasm" EXACT [NCIT:C3019]
synonym: "epidural space neoplasm" EXACT []
synonym: "epidural space tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "epidural space tumour" EXACT OMO:0003005 []
synonym: "epidural spinal canal neoplasm" EXACT [NCIT:C3019]
synonym: "epidural spinal canal tumor" EXACT [NCIT:C3019]
synonym: "epidural spinal canal tumors" EXACT [NCIT:C3019]
synonym: "epidural spinal canal tumour" EXACT OMO:0003005 []
synonym: "epidural spinal canal tumours" EXACT OMO:0003005 []
synonym: "epidural spinal neoplasms" EXACT [NCIT:C3019]
synonym: "epidural spinal tumors" EXACT [NCIT:C3019]
synonym: "epidural spinal tumours" EXACT OMO:0003005 []
synonym: "epidural tumor" EXACT [NCIT:C3019]
synonym: "epidural tumour" EXACT OMO:0003005 []
synonym: "extradural neoplasm" EXACT [NCIT:C3019]
synonym: "extradural spinal canal neoplasm" EXACT [NCIT:C3019]
synonym: "extradural spinal canal neoplasms" EXACT [NCIT:C3019]
synonym: "extradural spinal canal tumor" EXACT [NCIT:C3019]
synonym: "extradural spinal canal tumour" EXACT OMO:0003005 []
synonym: "extradural spinal neoplasms" EXACT [NCIT:C3019]
synonym: "extradural spinal tumors" EXACT [NCIT:C3019]
synonym: "extradural spinal tumours" EXACT OMO:0003005 []
synonym: "extradural tumor" EXACT [DOID:3618, NCIT:C3019]
synonym: "extradural tumour" EXACT OMO:0003005 []
synonym: "neoplasm of epidural space" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of epidural spinal canal" EXACT [NCIT:C3019]
synonym: "neoplasm of extradural spinal canal" EXACT [NCIT:C3019]
synonym: "neoplasm of the epidural spinal canal" EXACT [NCIT:C3019]
synonym: "neoplasm of the extradural spinal canal" EXACT [NCIT:C3019]
synonym: "tumor of epidural space" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of epidural spinal canal" EXACT [NCIT:C3019]
synonym: "tumor of extradural spinal canal" EXACT [NCIT:C3019]
synonym: "tumor of the epidural spinal canal" EXACT [NCIT:C3019]
synonym: "tumor of the extradural spinal canal" EXACT [NCIT:C3019]
synonym: "tumour of epidural space" EXACT OMO:0003005 []
synonym: "tumour of epidural spinal canal" EXACT OMO:0003005 []
synonym: "tumour of extradural spinal canal" EXACT OMO:0003005 []
synonym: "tumour of the epidural spinal canal" EXACT OMO:0003005 []
synonym: "tumour of the extradural spinal canal" EXACT OMO:0003005 []
xref: DOID:3618 {source="MONDO:equivalentTo"}
xref: MEDGEN:4504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015174 {source="MONDO:equivalentTo", source="DOID:3618"}
xref: NCIT:C3019 {source="MONDO:equivalentTo", source="DOID:3618"}
xref: UMLS:C0014536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4504"}
is_a: MONDO:0005070 {source="DOID:3618/inferred", source="EFO:1000923/inferred", source="MESH:D015174/inferred", source="MONDO:Redundant", source="NCIT:C3019/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003691 ! epidural space

[Term]
id: MONDO:0002714
name: central nervous system cancer
def: "A malignant neoplasm involving the central nervous system" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4627]
synonym: "cancer of CNS" EXACT [NCIT:C4627]
synonym: "cancer of the central nervous system" EXACT [NCIT:C4627]
synonym: "cancer of the CNS" EXACT [NCIT:C4627]
synonym: "central nervous system cancer" EXACT [MONDO:patterns/location, NCIT:C4627]
synonym: "central nervous system neoplasms, malignant" EXACT [NCIT:C4627]
synonym: "central nervous system tumor" BROAD [DOID:3620]
synonym: "central nervous system tumors" EXACT [DOID:3620]
synonym: "central nervous system tumour" BROAD OMO:0003005 []
synonym: "central nervous system tumours" EXACT OMO:0003005 []
synonym: "CNS cancer" EXACT [NCIT:C4627]
synonym: "CNS malignant neoplasms" EXACT [NCIT:C4627]
synonym: "CNS neoplasm" BROAD [DOID:3620]
synonym: "CNS neoplasms, malignant" EXACT [NCIT:C4627]
synonym: "malignant central nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4627]
synonym: "malignant central nervous system tumor" EXACT [NCIT:C4627]
synonym: "malignant central nervous system tumour" EXACT OMO:0003005 []
synonym: "malignant CNS neoplasm" EXACT [NCIT:C4627]
synonym: "malignant CNS neoplasms" EXACT [NCIT:C4627]
synonym: "malignant CNS tumor" EXACT [NCIT:C4627]
synonym: "malignant CNS tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4627]
synonym: "malignant neoplasm of central nervous system, NOS" RELATED EXCLUDE [DOID:3620]
synonym: "malignant neoplasm of CNS" EXACT [NCIT:C4627]
synonym: "malignant neoplasm of the central nervous system" EXACT [NCIT:C4627]
synonym: "malignant neoplasm of the CNS" EXACT [NCIT:C4627]
synonym: "malignant tumor of central nervous system" EXACT [NCIT:C4627]
synonym: "malignant tumor of CNS" EXACT [DOID:3620, NCIT:C4627]
synonym: "malignant tumor of the central nervous system" EXACT [NCIT:C4627]
synonym: "malignant tumor of the CNS" EXACT [NCIT:C4627]
synonym: "malignant tumour of central nervous system" EXACT OMO:0003005 []
synonym: "malignant tumour of CNS" EXACT OMO:0003005 []
synonym: "malignant tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "malignant tumour of the CNS" EXACT OMO:0003005 []
synonym: "neoplasm of central nervous system" RELATED EXCLUDE [DOID:3620]
xref: DOID:3620 {source="MONDO:equivalentTo"}
xref: EFO:0000326 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C69-C72 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:C72.9 {source="DOID:3620"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016543 {source="DOID:3620", source="MONDO:equivalentTo"}
xref: NANDO:2100007 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4627 {source="DOID:3620", source="MONDO:equivalentTo"}
xref: NCIT:C9293 {source="MONDO:relatedTo", source="DOID:3620"}
xref: SCTID:126951006 {source="DOID:3620", source="MONDO:equivalentTo"}
xref: SCTID:190135002 {source="DOID:3620"}
xref: SCTID:372062007 {source="DOID:3620"}
xref: SCTID:93744007 {source="DOID:3620"}
xref: UMLS:C0348374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87593"}
is_a: MONDO:0005872 {source="DOID:3620", source="MESH:D016543", source="MONDO:Redundant", source="NCIT:C4627"} ! nervous system cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0002715
name: uterine cancer
def: "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix." [NCIT:C3552]
subset: otar {source="MONDO:OTAR"}
synonym: "CA - cancer of uterus" EXACT [DOID:363]
synonym: "cancer of the uterus" EXACT [NCIT:C3552]
synonym: "cancer of uterus" EXACT [MONDO:patterns/cancer, NCIT:C3552]
synonym: "malignant neoplasm of the uterus" EXACT [NCIT:C3552]
synonym: "malignant neoplasm of uterus" EXACT [DOID:363, MONDO:patterns/cancer, NCIT:C3552]
synonym: "malignant tumor of the uterus" EXACT [NCIT:C3552]
synonym: "malignant tumor of uterus" EXACT [NCIT:C3552]
synonym: "malignant tumour of the uterus" EXACT OMO:0003005 []
synonym: "malignant tumour of uterus" EXACT OMO:0003005 []
synonym: "malignant uterine neoplasm" EXACT [NCIT:C3552]
synonym: "malignant uterine tumor" EXACT [DOID:363, NCIT:C3552]
synonym: "malignant uterine tumour" EXACT OMO:0003005 []
synonym: "malignant uterus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of uterus" BROAD [DOID:363]
synonym: "tumor of uterus" BROAD [DOID:363]
synonym: "tumour of uterus" BROAD OMO:0003005 []
synonym: "uterine cancer" EXACT [NCIT:C3552]
synonym: "uterine cancer, NOS" RELATED EXCLUDE [NCIT:C3552]
synonym: "uterine tumor" BROAD [DOID:363, NCIT:C3435]
synonym: "uterine tumour" BROAD OMO:0003005 []
synonym: "uterus cancer" EXACT [MONDO:patterns/location]
synonym: "uterus neoplasm" BROAD [DOID:363]
xref: DOID:363 {source="MONDO:equivalentTo"}
xref: ICD10CM:C55 {source="DOID:363"}
xref: ICD9:179 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:363"}
xref: MEDGEN:57791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014594 {source="MONDO:equivalentTo", source="DOID:363"}
xref: NCIT:C3435 {source="DOID:363"}
xref: NCIT:C3552 {source="MONDO:equivalentTo", source="DOID:363"}
xref: SCTID:126908007 {source="DOID:363"}
xref: SCTID:156169001 {source="DOID:363"}
xref: SCTID:188173004 {source="DOID:363"}
xref: SCTID:269613007 {source="DOID:363"}
xref: SCTID:371973000 {source="MONDO:equivalentTo", source="DOID:363"}
xref: SCTID:93718007 {source="DOID:363"}
xref: SCTID:94127009 {source="DOID:363"}
xref: UMLS:C0153567 {source="MONDO:equivalentTo", source="MEDGEN:57791", source="MONDO:MEDGEN"}
is_a: MONDO:0001416 {source="DOID:363", source="NCIT:C3552"} ! female reproductive organ cancer
is_a: MONDO:0002654 {source="DOID:363", source="MESH:D014594", source="MONDO:Redundant", source="NCIT:C3552/inferred"} ! uterine disorder
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3552"} ! tumor of uterus
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000995 ! uterus

[Term]
id: MONDO:0002716
name: childhood spinal cord tumor
def: "A benign or malignant neoplasm affecting the spinal cord during childhood." [NCIT:P378]
synonym: "childhood spinal cord neoplasm" EXACT [DOID:3637, NCIT:C9234]
synonym: "paediatric spinal cord neoplasm" EXACT OMO:0003005 []
synonym: "pediatric spinal cord neoplasm" EXACT [MONDO:patterns/childhood]
synonym: "spinal cord neoplasm of childhood" EXACT [MONDO:patterns/childhood]
xref: DOID:3637 {source="MONDO:equivalentTo"}
xref: MEDGEN:209512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9234 {source="MONDO:equivalentTo", source="DOID:3637"}
xref: UMLS:C1134515 {source="MEDGEN:209512", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0021234 ! spinal cord neoplasm
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:3637", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer

[Term]
id: MONDO:0002717
name: spinal cord intramedullary teratoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intramedullary spinal cord teratoma" EXACT [NCIT:C5428]
synonym: "intramedullary spinal teratoma" EXACT [DOID:3639, NCIT:C5428]
synonym: "intramedullary teratoma of spinal cord" EXACT [NCIT:C5428]
synonym: "intramedullary teratoma of the spinal cord" EXACT [NCIT:C5428]
xref: DOID:3639 {source="MONDO:equivalentTo"}
xref: MEDGEN:233575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5428 {source="MONDO:equivalentTo", source="DOID:3639"}
xref: UMLS:C1334259 {source="MONDO:equivalentTo", source="MEDGEN:233575", source="MONDO:MEDGEN"}
is_a: MONDO:0002718 {source="NCIT:C5428"} ! central nervous system teratoma
is_a: MONDO:0021506 {source="NCIT:C5428"} ! benign neoplasm of spinal cord
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:3639", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer

[Term]
id: MONDO:0002718
name: central nervous system teratoma
def: "A mature or immature teratoma that affects the central nervous system." [NCIT:C5441]
subset: gard_rare {source="GARD:20735", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:252018"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system teratoma" EXACT [MONDO:patterns/location, NCIT:C5441]
synonym: "CNS teratoma" EXACT [DOID:3640, NCIT:C5441]
synonym: "teratoma of central nervous system" EXACT [NCIT:C5441]
synonym: "teratoma of CNS" EXACT [NCIT:C5441]
synonym: "teratoma of the central nervous system" EXACT [MONDO:0016741, NCIT:C5441]
synonym: "teratoma of the CNS" EXACT [NCIT:C5441]
xref: DOID:3640 {source="MONDO:equivalentTo"}
xref: GARD:20735 {source="MONDO:GARD"}
xref: MEDGEN:234105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200104 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C5441 {source="DOID:3640", source="MONDO:equivalentTo"}
xref: Orphanet:252018 {source="MONDO:equivalentTo"}
xref: UMLS:C1332895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234105"}
is_a: MONDO:0002601 {source="DOID:3640", source="MONDO:Redundant", source="NCIT:C5441"} ! teratoma
is_a: MONDO:0003000 {source="DOID:3640", source="MONDO:Redundant", source="NCIT:C5441/inferred"} ! central nervous system germ cell tumor
is_a: MONDO:0019500 {source="Orphanet:252018"} ! extragonadal teratoma
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0002719
name: conus medullaris neoplasm
def: "A neoplasm (disease) that involves the conus medullaris." [MONDO:patterns/location]
synonym: "conus medullaris neoplasm" EXACT [NCIT:C5443]
synonym: "conus medullaris neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "conus medullaris tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5443]
synonym: "conus medullaris tumour" EXACT OMO:0003005 []
synonym: "neoplasm of conus medullaris" EXACT [MONDO:patterns/neoplasm, NCIT:C5443]
synonym: "neoplasm of the conus medullaris" EXACT [NCIT:C5443]
synonym: "tumor of conus medullaris" EXACT [DOID:3641, MONDO:patterns/neoplasm, NCIT:C5443]
synonym: "tumor of the conus medullaris" EXACT [NCIT:C5443]
synonym: "tumour of conus medullaris" EXACT OMO:0003005 []
synonym: "tumour of the conus medullaris" EXACT OMO:0003005 []
xref: DOID:3641 {source="MONDO:equivalentTo"}
xref: MEDGEN:232392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5443 {source="DOID:3641", source="MONDO:equivalentTo"}
xref: UMLS:C1333153 {source="MEDGEN:232392", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021234 {source="MONDO:Redundant", source="NCIT:C5443"} ! spinal cord neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0005437 ! conus medullaris
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:3641", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer

[Term]
id: MONDO:0002720
name: sella turcica neoplasm
def: "A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma." [NCIT:C4944]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of sella turcica" EXACT [NCIT:C4944]
synonym: "neoplasm of the sella turcica" EXACT [NCIT:C4944]
synonym: "sella turcica neoplasm" EXACT [NCIT:C4944]
synonym: "sella turcica tumor" EXACT [NCIT:C4944]
synonym: "sella turcica tumour" EXACT OMO:0003005 []
synonym: "sellar neoplasm" EXACT [NCIT:C4944]
synonym: "sellar tumor" EXACT [NCIT:C4944]
synonym: "sellar tumour" EXACT OMO:0003005 []
synonym: "selt" RELATED [ONCOTREE:SELT]
synonym: "tumor of sella turcica" EXACT [DOID:3643, NCIT:C4944]
synonym: "tumor of the sella turcica" EXACT [NCIT:C4944]
synonym: "tumour of sella turcica" EXACT OMO:0003005 []
synonym: "tumour of the sella turcica" EXACT OMO:0003005 []
xref: DOID:3643 {source="MONDO:equivalentTo"}
xref: MEDGEN:148188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4944 {source="DOID:3643", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:SELT {source="MONDO:equivalentTo"}
xref: UMLS:C0748616 {source="MEDGEN:148188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002785 {source="DOID:3643", source="NCIT:C4944"} ! skull base neoplasm

[Term]
id: MONDO:0002721
name: necrosis of pituitary
def: "Ischemic or hemorrhagic necrosis of the pituitary gland." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "pituitary gland Necrosis" EXACT [NCIT:C27066]
synonym: "pituitary necrosis" EXACT [DOID:3646, NCIT:C27066]
xref: DOID:3646 {source="MONDO:equivalentTo"}
xref: MEDGEN:124404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27066 {source="MONDO:equivalentTo", source="DOID:3646"}
xref: SCTID:59572000 {source="MONDO:equivalentTo", source="DOID:3646"}
xref: UMLS:C0271558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124404"}
is_a: MONDO:0003381 {source="DOID:3646", source="NCIT:C27066/inferred"} ! pituitary gland disorder

[Term]
id: MONDO:0002722
name: olfactory nerve neoplasm
def: "Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell." [NCIT:C5121]
synonym: "cranial nerve I neoplasms" EXACT [NCIT:C5121]
synonym: "first cranial nerve neoplasm" EXACT [NCIT:C5121]
synonym: "first cranial nerve neoplasms" EXACT [NCIT:C5121]
synonym: "first cranial nerve tumor" EXACT [NCIT:C5121]
synonym: "first cranial nerve tumour" EXACT OMO:0003005 []
synonym: "neoplasm of first cranial nerve" EXACT [NCIT:C5121]
synonym: "neoplasm of olfactory nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5121]
synonym: "neoplasm of the first cranial nerve" EXACT [NCIT:C5121]
synonym: "neoplasm of the olfactory nerve" EXACT [NCIT:C5121]
synonym: "neoplasms, cranial nerve I" EXACT [NCIT:C5121]
synonym: "neoplasms, olfactory nerve" EXACT [NCIT:C5121]
synonym: "olfactory nerve neoplasm" EXACT [NCIT:C5121]
synonym: "olfactory nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "olfactory nerve neoplasms" EXACT [NCIT:C5121]
synonym: "olfactory nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5121]
synonym: "olfactory nerve tumour" EXACT OMO:0003005 []
synonym: "olfactory neural neoplasm" EXACT [NCIT:C5121]
synonym: "olfactory neural tumor" EXACT [DOID:8256, NCIT:C5121]
synonym: "olfactory neural tumour" EXACT OMO:0003005 []
synonym: "tumor of first cranial nerve" EXACT [NCIT:C5121]
synonym: "tumor of olfactory nerve" EXACT [DOID:366, MONDO:patterns/neoplasm, NCIT:C5121]
synonym: "tumor of the first cranial nerve" EXACT [NCIT:C5121]
synonym: "tumor of the olfactory nerve" EXACT [NCIT:C5121]
synonym: "tumour of first cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of olfactory nerve" EXACT OMO:0003005 []
synonym: "tumour of the first cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the olfactory nerve" EXACT OMO:0003005 []
xref: DOID:366 {source="MONDO:equivalentObsolete"}
xref: DOID:8256 {source="MONDO:equivalentTo"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5121 {source="MONDO:equivalentTo", source="DOID:366"}
xref: SCTID:126967000 {source="MONDO:equivalentTo", source="DOID:366"}
xref: UMLS:C0346319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87551"}
is_a: MONDO:0002633 {source="DOID:366/inferred", source="DOID:8256/inferred", source="MONDO:Redundant", source="NCIT:C5121"} ! cranial nerve neoplasm
is_a: MONDO:0002727 {source="MONDO:Redundant", source="NCIT:C5121"} ! olfactory nerve disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001579 ! olfactory nerve

[Term]
id: MONDO:0002723
name: obsolete cutaneous mastocytosis
synonym: "obsolete cutaneous mastocytosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete cutaneous mastocytosis (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0019023

[Term]
id: MONDO:0002724
name: mast cell neoplasm
def: "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)" [NCIT:C9295]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mast cell neoplasm" EXACT [NCIT:C9295]
synonym: "Mast cell proliferative disease" EXACT [DOID:3664, NCIT:C9295]
synonym: "Mast cell tumor" EXACT [NCIT:C9295]
synonym: "mast cell tumor" EXACT [DOID:3664, NCIT:C9295]
synonym: "Mast cell tumour" EXACT OMO:0003005 []
synonym: "mast cell tumour" EXACT OMO:0003005 []
synonym: "mastocytoma" RELATED EXCLUDE [DOID:3664]
synonym: "neoplasm of Mast cells" EXACT [NCIT:C9295]
synonym: "neoplasm of the Mast cells" EXACT [NCIT:C9295]
synonym: "tumor of Mast cells" EXACT [NCIT:C9295]
synonym: "tumor of the Mast cells" EXACT [NCIT:C9295]
synonym: "tumour of Mast cells" EXACT OMO:0003005 []
synonym: "tumour of the Mast cells" EXACT OMO:0003005 []
xref: DOID:3664 {source="MONDO:equivalentTo"}
xref: EFO:0009000 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D47.0 {source="DOID:3664"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9295 {source="DOID:3664", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:127581004 {source="DOID:3664"}
xref: SCTID:190021001 {source="DOID:3664"}
xref: SCTID:414653009 {source="DOID:3664", source="MONDO:equivalentTo"}
xref: SCTID:89796001 {source="DOID:3664"}
xref: UMLS:C0334664 {source="MEDGEN:83178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005170 {source="EFO:0009000", source="NCIT:C9295"} ! myeloid neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_basis_in_dysfunction_of CL:0000097 ! mast cell

[Term]
id: MONDO:0002725
name: obsolete diffuse cutaneous mastocytosis
is_obsolete: true
replaced_by: MONDO:0019315

[Term]
id: MONDO:0002726
name: cutaneous solitary mastocytoma
def: "A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." [MESH:D054705]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "skin solitary mastocytoma" EXACT [NCIT:C7138]
synonym: "solitary mastocytoma" RELATED EXCLUDE [DOID:3666]
synonym: "solitary mastocytoma of skin" EXACT [DOID:3666, NCIT:C7138]
synonym: "solitary mastocytoma of the skin" EXACT [NCIT:C7138]
xref: DOID:3666 {source="MONDO:equivalentTo"}
xref: ICDO:9740/1 {source="NCIT:C7138"}
xref: MESH:D054705 {source="MONDO:equivalentTo"}
xref: NCIT:C7138 {source="MONDO:equivalentTo"}
is_a: MONDO:0002724 {source="DOID:3666", source="EFO:1001844/inferred", source="NCIT:C7138/inferred"} ! mast cell neoplasm
relationship: excluded_subClassOf MONDO:0002898 {source="DOID:3666", source="https://orcid.org/0000-0001-5208-3432"} ! skin cancer

[Term]
id: MONDO:0002727
name: olfactory nerve disorder
def: "A disease involving the olfactory nerve." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of olfactory nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of olfactory nerve" EXACT []
synonym: "disorder of 1st nerve" EXACT [DOID:367, NCIT:C27210]
synonym: "disorder of olfactory [1st] nerve" EXACT [DOID:367, ICD9CM:352.0]
synonym: "disorder of olfactory nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the 1st nerve" EXACT [NCIT:C27210]
synonym: "olfactory nerve disease" EXACT [MONDO:patterns/location]
synonym: "olfactory nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "olfactory nerve disorder" EXACT [NCIT:C27210]
xref: DOID:367 {source="MONDO:equivalentTo"}
xref: ICD10CM:G52.0 {source="DOID:367"}
xref: ICD9:352.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:367"}
xref: MEDGEN:155962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020431 {source="MONDO:equivalentTo", source="DOID:367"}
xref: NCIT:C27210 {source="MONDO:equivalentTo", source="DOID:367"}
xref: SCTID:68982002 {source="MONDO:equivalentTo", source="DOID:367"}
xref: UMLS:C0751937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155962"}
is_a: MONDO:0003569 {source="DOID:367/inferred", source="MESH:D020431", source="MONDO:Redundant", source="NCIT:C27210"} ! cranial nerve neuropathy
is_a: MONDO:0005560 {source="DOID:367"} ! brain disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001579 ! olfactory nerve
relationship: excluded_subClassOf MONDO:0002639 {source="DOID:367", source="https://orcid.org/0000-0001-5208-3432"} ! glossopharyngeal nerve disorder

[Term]
id: MONDO:0002728
name: rhabdoid tumor
def: "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." [NCIT:C3808]
subset: gard_rare {source="GARD:7572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69077"}
subset: orphanet_rare {source="Orphanet:69077"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant rhabdoid tumor" EXACT [DOID:3672, MONDO:0005548, Orphanet:69077]
synonym: "malignant rhabdoid tumour" EXACT OMO:0003005 []
synonym: "rhabdoid cancer" RELATED [DOID:3672]
synonym: "rhabdoid sarcoma" EXACT [DOID:3672, NCIT:C3808]
synonym: "rhabdoid tumor" EXACT [DOID:3672, MONDO:0019069, NCIT:C3808]
xref: DOID:3672 {source="MONDO:equivalentTo"}
xref: EFO:0005701 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7572 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:69077", source="Orphanet:69077/ntbt"}
xref: ICDO:8963/3 {source="NCIT:C3808"}
xref: MEDGEN:64646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018335 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701", source="Orphanet:69077", source="Orphanet:69077/e"}
xref: NANDO:2200057 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3808 {source="DOID:3672", source="MONDO:equivalentTo", source="EFO:0005701"}
xref: ONCOTREE:MRT {source="MONDO:equivalentTo"}
xref: Orphanet:69077 {source="MONDO:equivalentTo"}
xref: SCTID:189812005 {source="DOID:3672"}
xref: SCTID:83118000 {source="DOID:3672"}
xref: UMLS:C0206743 {source="MEDGEN:64646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005564 {source="EFO:0005701", source="NCIT:C3808"} ! embryonal neoplasm
is_a: MONDO:0018078 {source="Orphanet:69077"} ! soft tissue sarcoma

[Term]
id: MONDO:0002729
name: rhabdoid tumor of the kidney
def: "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." [NCIT:C8715]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "kidney rhabdoid cancer" RELATED [DOID:3674]
synonym: "kidney rhabdoid tumor" EXACT [DOID:3674, MONDO:patterns/location, NCIT:C8715]
synonym: "kidney rhabdoid tumour" EXACT OMO:0003005 []
synonym: "malignant rhabdoid tumor of kidney" EXACT [NCIT:C8715]
synonym: "malignant rhabdoid tumor of the kidney" EXACT [NCIT:C8715]
synonym: "malignant rhabdoid tumour of kidney" EXACT OMO:0003005 []
synonym: "malignant rhabdoid tumour of the kidney" EXACT OMO:0003005 []
synonym: "MRTK" EXACT ABBREVIATION [NCIT:C8715]
synonym: "renal rhabdoid neoplasm" EXACT [NCIT:C8715]
synonym: "renal rhabdoid tumor" EXACT [DOID:3674, NCIT:C8715]
synonym: "renal rhabdoid tumour" EXACT OMO:0003005 []
synonym: "rhabdoid neoplasm of kidney" EXACT [NCIT:C8715]
synonym: "rhabdoid neoplasm of the kidney" EXACT [NCIT:C8715]
synonym: "rhabdoid tumor of kidney" EXACT [NCIT:C8715]
synonym: "rhabdoid tumor of the kidney" EXACT [MONDO:0006399, NCIT:C8715]
synonym: "rhabdoid tumor of the kidney (RTK)" EXACT [NCIT:C8715]
synonym: "rhabdoid tumour of kidney" EXACT OMO:0003005 []
synonym: "rhabdoid tumour of the kidney (RTK)" EXACT OMO:0003005 []
xref: DOID:3674 {source="MONDO:equivalentTo"}
xref: EFO:1000512 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:208930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8715 {source="DOID:3674", source="MONDO:equivalentTo", source="EFO:1000512"}
xref: UMLS:C0854917 {source="MEDGEN:208930", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002728 {source="DOID:3674", source="MONDO:Redundant", source="NCIT:C8715"} ! rhabdoid tumor
intersection_of: MONDO:0002728 ! rhabdoid tumor
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0002730
name: childhood kidney neoplasm
def: "A kidney neoplasm that occurs during childhood." [MONDO:design_pattern]
subset: otar {source="MONDO:OTAR"}
synonym: "childhood kidney neoplasm" EXACT [NCIT:C6563]
synonym: "childhood kidney tumor" EXACT [NCIT:C6563]
synonym: "childhood kidney tumour" EXACT OMO:0003005 []
synonym: "childhood renal neoplasm" EXACT [NCIT:C6563]
synonym: "childhood renal tumor" EXACT [NCIT:C6563]
synonym: "childhood renal tumour" EXACT OMO:0003005 []
synonym: "kidney neoplasm" BROAD [NCIT:C6563]
synonym: "kidney neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric kidney neoplasm" EXACT OMO:0003005 []
synonym: "paediatric kidney tumour" EXACT OMO:0003005 []
synonym: "paediatric renal neoplasm" EXACT OMO:0003005 []
synonym: "paediatric renal tumour" EXACT OMO:0003005 []
synonym: "pediatric kidney neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C6563]
synonym: "pediatric kidney tumor" EXACT [NCIT:C6563]
synonym: "pediatric renal neoplasm" EXACT [NCIT:C6563]
synonym: "pediatric renal tumor" EXACT [DOID:3675, NCIT:C6563]
xref: DOID:3675 {source="MONDO:equivalentTo"}
xref: MEDGEN:232356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6563 {source="DOID:3675", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232356"}
is_a: MONDO:0021079 {source="MONDO:Redundant", source="NCIT:C6563"} ! childhood neoplasm
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C6563"} ! kidney neoplasm
intersection_of: MONDO:0021163 ! kidney neoplasm
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0002367 {source="DOID:3675", source="https://orcid.org/0000-0001-5208-3432"} ! kidney cancer

[Term]
id: MONDO:0002731
name: cerebral hemisphere cancer
def: "A cancer that involves the cerebral hemisphere." [MONDO:patterns/location]
synonym: "cancer of cerebral hemisphere" EXACT [MONDO:patterns/cancer]
synonym: "cancer of telencephalon" EXACT [MONDO:patterns/cancer]
synonym: "cerebral cancer" EXACT [DOID:368, NCIT:C4577]
synonym: "cerebrum cancer" RELATED [DOID:368]
synonym: "malignant cerebral hemisphere neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant cerebral hemispheric neoplasm" EXACT [NCIT:C4577]
synonym: "malignant cerebral hemispheric tumor" EXACT [NCIT:C4577]
synonym: "malignant cerebral hemispheric tumour" EXACT OMO:0003005 []
synonym: "malignant cerebral neoplasm" EXACT [NCIT:C4577]
synonym: "malignant cerebral tumor" EXACT [NCIT:C4577]
synonym: "malignant cerebral tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of cerebral hemisphere" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cerebral hemispheres" EXACT [NCIT:C4577]
synonym: "malignant neoplasm of cerebrum" EXACT [NCIT:C4577]
synonym: "malignant neoplasm of telencephalon" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the cerebral hemispheres" EXACT [NCIT:C4577]
synonym: "malignant neoplasm of the cerebrum" EXACT [NCIT:C4577]
synonym: "malignant telencephalon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of cerebral hemispheres" EXACT [NCIT:C4577]
synonym: "malignant tumor of cerebrum" EXACT [NCIT:C4577]
synonym: "malignant tumor of the cerebral hemispheres" EXACT [NCIT:C4577]
synonym: "malignant tumor of the cerebrum" EXACT [NCIT:C4577]
synonym: "malignant tumour of cerebral hemispheres" EXACT OMO:0003005 []
synonym: "malignant tumour of cerebrum" EXACT OMO:0003005 []
synonym: "malignant tumour of the cerebral hemispheres" EXACT OMO:0003005 []
synonym: "malignant tumour of the cerebrum" EXACT OMO:0003005 []
synonym: "neoplasm of cerebrum" RELATED EXCLUDE [DOID:368]
synonym: "telencephalon cancer" EXACT [MONDO:patterns/location]
synonym: "tumor of cerebrum" BROAD [DOID:368, NCIT:C4874]
synonym: "tumour of cerebrum" BROAD OMO:0003005 []
xref: DOID:368 {source="MONDO:equivalentTo"}
xref: ICD9:191.8 {source="DOID:368"}
xref: MEDGEN:91109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4577 {source="MONDO:equivalentTo"}
xref: NCIT:C4874 {source="DOID:368"}
xref: SCTID:126953009 {source="DOID:368"}
xref: SCTID:188300006 {source="DOID:368"}
xref: SCTID:188304002 {source="DOID:368"}
xref: SCTID:429033009 {source="MONDO:equivalentTo"}
xref: UMLS:C0346903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91109"}
is_a: MONDO:0002071 {source="DOID:368", source="NCIT:C4577"} ! supratentorial cancer
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C4577"} ! neoplasm of cerebral hemisphere
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001869 ! cerebral hemisphere

[Term]
id: MONDO:0002732
name: lung benign neoplasm
def: "A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma." [NCIT:C4454]
subset: otar {source="MONDO:OTAR"}
synonym: "benign lung neoplasm" EXACT [NCIT:C4454]
synonym: "benign lung tumor" EXACT [NCIT:C4454]
synonym: "benign lung tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of lung" EXACT [NCIT:C4454]
synonym: "benign neoplasm of the lung" EXACT [NCIT:C4454]
synonym: "benign tumor of lung" EXACT [NCIT:C4454]
synonym: "benign tumor of the lung" EXACT [NCIT:C4454]
synonym: "benign tumour of lung" EXACT OMO:0003005 []
synonym: "benign tumour of the lung" EXACT OMO:0003005 []
synonym: "lung benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tumor of the lung" BROAD [DOID:3683, NCIT:C3200]
synonym: "tumour of the lung" BROAD OMO:0003005 []
xref: DOID:3683 {source="MONDO:equivalentTo"}
xref: MEDGEN:83393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008175 {source="DOID:3683"}
xref: NCIT:C3200 {source="DOID:3683"}
xref: NCIT:C4454 {source="MONDO:equivalentTo"}
xref: SCTID:126713003 {source="DOID:3683"}
xref: UMLS:C0345963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83393"}
is_a: MONDO:0000382 {source="DOID:3683", source="MONDO:Entailed", source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C4454"} ! thoracic benign neoplasm
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C4454"} ! lung neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0002733
name: obsolete MONDO:0002733
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024432

[Term]
id: MONDO:0002734
name: anal mucinous adenocarcinoma
def: "An anal adenocarcinoma characterized by the presence of mucoid stroma formation." [NCIT:C5606]
synonym: "anal colloid adenocarcinoma" EXACT [NCIT:C5606]
synonym: "anal colloidal adenocarcinoma" EXACT [NCIT:C5606]
synonym: "anal mucinous adenocarcinoma" EXACT [NCIT:C5606]
synonym: "anus mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "colloid adenocarcinoma of anus" EXACT [NCIT:C5606]
synonym: "colloid adenocarcinoma of the anus" EXACT [NCIT:C5606]
synonym: "colloidal adenocarcinoma of anus" EXACT [NCIT:C5606]
synonym: "colloidal adenocarcinoma of the anus" EXACT [NCIT:C5606]
synonym: "mucinous adenocarcinoma of anus" EXACT [DOID:3691, NCIT:C5606]
synonym: "mucinous adenocarcinoma of the anus" EXACT [NCIT:C5606]
xref: DOID:3691 {source="MONDO:equivalentTo"}
xref: MEDGEN:233980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5606 {source="MONDO:equivalentTo", source="DOID:3691"}
xref: UMLS:C1332272 {source="MEDGEN:233980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002652 {source="DOID:3691", source="MONDO:Redundant", source="NCIT:C5606/inferred"} ! anus adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3691", source="NCIT:C5606"} ! mucinous adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0002735
name: anal canal adenocarcinoma
def: "An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding." [NCIT:C7471]
subset: gard_rare {source="GARD:21773", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424016"}
subset: orphanet_rare {source="Orphanet:424016"}
subset: rare
synonym: "adenocarcinoma arising in anal mucosa" EXACT [NCIT:C7471]
synonym: "adenocarcinoma arising in the anal mucosa" EXACT [NCIT:C7471]
synonym: "adenocarcinoma of anal canal" EXACT [DOID:3692, NCIT:C7471]
synonym: "adenocarcinoma of the anal canal" EXACT [DOID:3692, MONDO:0018518, NCIT:C7471]
synonym: "anal canal adenocarcinoma" EXACT [MONDO:ambiguous, MONDO:patterns/location, NCIT:C7471]
synonym: "anal canal adenocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:3692 {source="MONDO:equivalentTo"}
xref: GARD:21773 {source="MONDO:GARD"}
xref: HP:0030439 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C21.1 {source="Orphanet:424016", source="Orphanet:424016/ntbt"}
xref: icd11.foundation:168138050 {source="Orphanet:424016", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:233977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7471 {source="MONDO:equivalentTo", source="DOID:3692"}
xref: Orphanet:424016 {source="MONDO:equivalentTo"}
xref: SCTID:764845008 {source="MONDO:equivalentTo"}
xref: UMLS:C1332259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233977"}
is_a: MONDO:0007108 {source="DOID:3692", source="MONDO:Redundant", source="NCIT:C7471", source="Orphanet:424016"} ! anal canal carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000159 ! anal canal
property_value: IAO:0000589 "anal canal adenocarcinoma (disease)" xsd:string

[Term]
id: MONDO:0002736
name: ampulla of vater mucinous adenocarcinoma
def: "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation." [NCIT:C27416]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ampulla of Vater mucinous adenocarcinoma" EXACT [NCIT:C27416]
synonym: "hepatopancreatic ampulla mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3693 {source="MONDO:equivalentTo"}
xref: MEDGEN:233973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27416 {source="DOID:3693", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233973"}
is_a: MONDO:0002670 {source="DOID:3693", source="MONDO:Redundant", source="NCIT:C27416"} ! ampulla of vater adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3693/inferred", source="MONDO:Redundant", source="NCIT:C27416"} ! mucinous adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla
relationship: excluded_subClassOf MONDO:0002739 {source="DOID:3693", source="https://orcid.org/0000-0001-5208-3432"} ! extrahepatic bile duct mucinous adenocarcinoma

[Term]
id: MONDO:0002737
name: acute sanguinous otitis media
def: "A acute transudative otitis media which involves bloody effusion." [DOID:3696, http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false]
xref: DOID:3696 {source="MONDO:equivalentTo"}
xref: ICD9:381.03 {source="DOID:3696", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:583100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:77478005 {source="DOID:3696", source="MONDO:equivalentTo"}
xref: UMLS:C0395865 {source="MONDO:equivalentTo", source="MEDGEN:583100", source="MONDO:MEDGEN"}
is_a: MONDO:0002738 {source="DOID:3696"} ! acute transudative otitis media
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0002738
name: acute transudative otitis media
def: "Acute form of non-suppurative otitis media." [MONDO:patterns/acute]
synonym: "acute non-suppurative otitis media" EXACT [DOID:3697]
synonym: "acute nonsuppurative otitis media" EXACT [DOID:3697, ICD9CM:381.0]
synonym: "acute otitis media with effusion" EXACT [DOID:3697]
synonym: "acute secretory otitis media" EXACT [DOID:3697]
synonym: "acute transudative otitis media" EXACT [DOID:3697]
synonym: "non-suppurative otitis media, acute" EXACT [MONDO:patterns/acute]
xref: DOID:3697 {source="MONDO:equivalentTo"}
xref: ICD9:381.0 {source="DOID:3697"}
xref: ICD9:381.00 {source="DOID:3697", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:11957006 {source="DOID:3697"}
xref: SCTID:155218001 {source="DOID:3697"}
xref: SCTID:194238001 {source="DOID:3697"}
xref: SCTID:194239009 {source="DOID:3697"}
xref: SCTID:194244002 {source="DOID:3697"}
xref: SCTID:35183001 {source="DOID:3697"}
xref: SCTID:359609001 {source="DOID:3697", source="MONDO:equivalentTo"}
xref: SCTID:36958006 {source="DOID:3697"}
xref: UMLS:C0271432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543339"}
is_a: MONDO:0001212 {source="DOID:3697", source="MONDO:Redundant"} ! non-suppurative otitis media
intersection_of: MONDO:0001212 ! non-suppurative otitis media
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0002739
name: extrahepatic bile duct mucinous adenocarcinoma
def: "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." [NCIT:C5846]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct colloid carcinoma" EXACT [NCIT:C5846]
synonym: "bile duct colloidal carcinoma" EXACT [NCIT:C5846]
synonym: "bile duct mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5846]
synonym: "colloid adenocarcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "colloid adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "colloid adenocarcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "colloid adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "colloid bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "colloid bile duct carcinoma" EXACT [NCIT:C5846]
synonym: "colloid carcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "colloid carcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "colloid extrahepatic bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "colloidal adenocarcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "colloidal adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "colloidal adenocarcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "colloidal adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "colloidal bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "colloidal bile duct carcinoma" EXACT [NCIT:C5846]
synonym: "colloidal carcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "colloidal carcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "colloidal extrahepatic bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "extrahepatic bile duct mucinous adenocarcinoma" EXACT [NCIT:C5846]
synonym: "mucinous adenocarcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "mucinous adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "mucinous adenocarcinoma of the bile duct" EXACT [NCIT:C5846]
synonym: "mucinous adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C5846]
synonym: "mucinous bile duct adenocarcinoma" EXACT [NCIT:C5846]
synonym: "mucinous carcinoma of bile duct" EXACT [NCIT:C5846]
synonym: "mucinous carcinoma of the bile duct" EXACT [DOID:3698, NCIT:C5846]
synonym: "mucinous extrahepatic bile duct adenocarcinoma" EXACT [NCIT:C5846]
xref: DOID:3698 {source="MONDO:equivalentTo"}
xref: MEDGEN:167830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5846 {source="DOID:3698", source="MONDO:equivalentTo"}
xref: UMLS:C0861856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167830"}
is_a: MONDO:0002665 {source="MONDO:Redundant", source="NCIT:C5846"} ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0003193 {source="DOID:3698", source="MONDO:Entailed", source="NCIT:C5846/inferred"} ! bile duct adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3698", source="MONDO:Redundant", source="NCIT:C5846"} ! mucinous adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0002740
name: uterine ligament mucinous adenocarcinoma
def: "A rare mucinous adenocarcinoma that arises from the uterine ligament." [NCIT:C40137]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "uterine ligament mucinous adenocarcinoma" EXACT [NCIT:C40137]
xref: DOID:3699 {source="MONDO:equivalentTo"}
xref: NCIT:C40137 {source="MONDO:equivalentTo", source="DOID:3699", source="MONDO:exact-label-match"}
is_a: MONDO:0002741 {source="DOID:3699", source="MONDO:Redundant", source="NCIT:C40137"} ! uterine ligament adenocarcinoma
is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C40137"} ! mucinous adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0002741
name: uterine ligament adenocarcinoma
def: "A rare adenocarcinoma that arises from the uterine ligament." [NCIT:C40135]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "uterine ligament adenocarcinoma" EXACT [NCIT:C40135]
xref: DOID:3700 {source="MONDO:equivalentTo"}
xref: MEDGEN:311429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40135 {source="DOID:3700", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:311429"}
is_a: MONDO:0003612 {source="DOID:3700", source="MONDO:Redundant", source="NCIT:C40135"} ! uterine ligament cancer
is_a: MONDO:0004970 {source="MONDO:Redundant", source="NCIT:C40135"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0002742
name: cervical mucinous adenocarcinoma
def: "A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin." [NCIT:C36095]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervical mucinous adenocarcinoma" EXACT [NCIT:C36095]
synonym: "cervical mucinous adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C36095]
synonym: "cervical mucinous adenocarcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C36095]
synonym: "uterine cervix mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3701 {source="MONDO:equivalentTo"}
xref: MEDGEN:232048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36095 {source="MONDO:equivalentTo", source="DOID:3701", source="MONDO:exact-label-match"}
xref: UMLS:C1332919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232048"}
is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C36095"} ! mucinous adenocarcinoma
is_a: MONDO:0005153 {source="DOID:3701", source="NCIT:C36095"} ! cervical adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0002743
name: obsolete prostate colloid adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006067

[Term]
id: MONDO:0002744
name: fallopian tube mucinous adenocarcinoma
def: "An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas." [NCIT:C40103]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40103]
xref: DOID:3704 {source="MONDO:equivalentTo"}
xref: MEDGEN:274489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40103 {source="MONDO:equivalentTo", source="DOID:3704", source="MONDO:exact-label-match"}
xref: UMLS:C1517119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274489"}
is_a: MONDO:0002745 {source="MONDO:Redundant", source="NCIT:C40103"} ! fallopian tube mucinous tumor
is_a: MONDO:0002746 {source="DOID:3704", source="MONDO:Redundant", source="NCIT:C40103"} ! fallopian tube adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3704", source="MONDO:Redundant", source="NCIT:C40103"} ! mucinous adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0002745
name: fallopian tube mucinous tumor
def: "A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." [NCIT:C40109]
synonym: "fallopian tube mucinous neoplasm" EXACT [MONDO:patterns/location, NCIT:C40109]
synonym: "fallopian tube mucinous tumor" EXACT [NCIT:C40109]
xref: DOID:3705 {source="MONDO:equivalentTo"}
xref: MEDGEN:275871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40109 {source="MONDO:equivalentTo", source="DOID:3705"}
xref: UMLS:C1517120 {source="MEDGEN:275871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C40109"} ! fallopian tube neoplasm
is_a: MONDO:0024338 {source="MONDO:Redundant", source="NCIT:C40109"} ! mucinous neoplasm
intersection_of: MONDO:0024338 ! mucinous neoplasm
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0002746
name: fallopian tube adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the fallopian tube" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of fallopian tube" EXACT [NCIT:C6265]
synonym: "adenocarcinoma of the fallopian tube" EXACT [DOID:3706, NCIT:C6265]
synonym: "fallopian tube adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6265]
xref: DOID:3706 {source="MONDO:equivalentTo"}
xref: MEDGEN:232183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6265 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3706"}
xref: UMLS:C1333590 {source="MEDGEN:232183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:3706", source="MONDO:Redundant", source="NCIT:C6265"} ! adenocarcinoma
is_a: MONDO:0006206 {source="DOID:3706", source="MONDO:Redundant", source="NCIT:C6265"} ! fallopian tube carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0002747
name: endometrial mucinous adenocarcinoma
def: "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." [NCIT:C40144]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial mucinous adenocarcinoma" EXACT [MONDO:0006194, NCIT:C40144]
synonym: "endometrium mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "uterine corpus mucinous adenocarcinoma" RELATED [DOID:3707, NCIT:C40144]
synonym: "uterine mucinous carcinoma" RELATED [ONCOTREE:UMC]
xref: DOID:3707 {source="MONDO:equivalentTo"}
xref: EFO:1000236 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:276939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40144 {source="MONDO:equivalentTo", source="EFO:1000236", source="DOID:3707"}
xref: ONCOTREE:UMC {source="MONDO:equivalentTo"}
xref: UMLS:C1519859 {source="MEDGEN:276939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004957 {source="DOID:3707", source="MONDO:Redundant", source="NCIT:C40144"} ! mucinous adenocarcinoma
is_a: MONDO:0005461 {source="DOID:3707", source="EFO:1000236", source="MONDO:Redundant", source="NCIT:C40144/inferred"} ! endometrium adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0002748
name: rectum mucinous adenocarcinoma
def: "An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." [NCIT:C7973]
synonym: "colloid adenocarcinoma of rectum" EXACT [NCIT:C7973]
synonym: "colloid adenocarcinoma of the rectum" EXACT [NCIT:C7973]
synonym: "colloidal adenocarcinoma of rectum" EXACT [DOID:3709, NCIT:C7973]
synonym: "colloidal adenocarcinoma of the rectum" EXACT [NCIT:C7973]
synonym: "mucinous adenocarcinoma of rectum" EXACT [NCIT:C7973]
synonym: "mucinous adenocarcinoma of the rectum" EXACT [NCIT:C7973]
synonym: "rectal colloid adenocarcinoma" EXACT [NCIT:C7973]
synonym: "rectal colloidal adenocarcinoma" EXACT [NCIT:C7973]
synonym: "rectal mucinous adenocarcinoma" EXACT [NCIT:C7973]
synonym: "rectum mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3709 {source="MONDO:equivalentTo"}
xref: MEDGEN:83537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7973 {source="DOID:3709", source="MONDO:equivalentTo"}
xref: UMLS:C0279652 {source="MEDGEN:83537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002169 {source="DOID:3709", source="MONDO:Redundant", source="NCIT:C7973"} ! rectum adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3709", source="MONDO:Redundant", source="NCIT:C7973/inferred"} ! mucinous adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0002749
name: extracranial neuroblastoma
def: "A neuroblastoma arising from an anatomic site other than the brain." [NCIT:C5437]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "extracranial neuroblastoma" EXACT [NCIT:C5437]
xref: DOID:371 {source="MONDO:equivalentTo"}
xref: MEDGEN:272601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5437 {source="MONDO:equivalentTo", source="DOID:371", source="MONDO:exact-label-match"}
xref: UMLS:C1333499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272601"}
is_a: MONDO:0005072 {source="DOID:371", source="NCIT:C5437"} ! neuroblastoma

[Term]
id: MONDO:0002750
name: bladder colloid adenocarcinoma
synonym: "bladder mucinous adenocarcinoma" EXACT [NCIT:C39837]
xref: DOID:3710 {source="MONDO:equivalentTo"}
xref: MEDGEN:267373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39837 {source="MONDO:equivalentTo", source="DOID:3710"}
xref: UMLS:C1511193 {source="MEDGEN:267373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002751 {source="DOID:3710", source="NCIT:C39837"} ! bladder adenocarcinoma

[Term]
id: MONDO:0002751
name: bladder adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the urinary bladder" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of bladder" EXACT [NCIT:C4032]
synonym: "adenocarcinoma of the bladder" EXACT [NCIT:C4032]
synonym: "adenocarcinoma of the urinary bladder" EXACT [DOID:3711, NCIT:C4032]
synonym: "adenocarcinoma of urinary bladder" EXACT [NCIT:C4032]
synonym: "blad" RELATED [ONCOTREE:BLAD]
synonym: "bladder adenocarcinoma" EXACT [MONDO:0006110, NCIT:C4032]
synonym: "bladder adenocarcinoma, not otherwise specified" RELATED EXCLUDE [DOID:3711, NCIT:C39836]
synonym: "urinary bladder adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4032]
xref: DOID:3711 {source="MONDO:equivalentTo"}
xref: EFO:1000125 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39836 {source="DOID:3711"}
xref: NCIT:C4032 {source="DOID:3711", source="MONDO:equivalentTo", source="EFO:1000125", source="MONDO:exact-label-match"}
xref: ONCOTREE:BLAD {source="MONDO:equivalentTo"}
xref: SCTID:255110003 {source="DOID:3711", source="MONDO:equivalentTo"}
xref: UMLS:C0279682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76014"}
is_a: MONDO:0004970 {source="DOID:3711", source="EFO:1000125", source="MONDO:Redundant", source="NCIT:C4032"} ! adenocarcinoma
is_a: MONDO:0004986 {source="DOID:3711", source="EFO:1000125", source="MONDO:Redundant", source="NCIT:C4032"} ! urinary bladder carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0002752
name: ovarian adenocarcinoma
def: "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." [NCIT:C7700]
subset: gard_rare {source="GARD:20466", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:213504"}
subset: orphanet_rare {source="Orphanet:213504"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of ovary" EXACT [MONDO:0016246, NCIT:C7700]
synonym: "adenocarcinoma of the ovary" EXACT [DOID:3713, NCIT:C7700]
synonym: "ovarian adenoacanthoma" RELATED EXCLUDE [DOID:3713]
synonym: "ovarian adenocarcinoma" EXACT [DOID:3713, MONDO:0005600, NCIT:C7700, Orphanet:213504]
synonym: "ovary adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3713 {source="MONDO:equivalentTo"}
xref: EFO:0006460 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20466 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:213504", source="Orphanet:213504/ntbt"}
xref: MedDRA:10051938 {source="Orphanet:213504", source="Orphanet:213504/e"}
xref: MEDGEN:181757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7700 {source="MONDO:equivalentTo", source="DOID:3713", source="EFO:0006460"}
xref: Orphanet:213504 {source="MONDO:equivalentTo"}
xref: UMLS:C0948216 {source="MEDGEN:181757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:3713", source="EFO:0006460", source="MONDO:Redundant", source="NCIT:C7700"} ! adenocarcinoma
is_a: MONDO:0005140 {source="DOID:3713", source="EFO:0006460", source="MONDO:Entailed", source="NCIT:C7700"} ! ovarian carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0002753
name: obsolete mucinous stomach adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006309

[Term]
id: MONDO:0002754
name: extramedullary plasmacytoma
def: "A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EP" RELATED ABBREVIATION [ONCOTREE:EP]
synonym: "extramedullary plasmacytoma" EXACT [DOID:3720, NCIT:C4002]
synonym: "extramedullary plasmacytoma (clinical)" EXACT [DOID:3720]
synonym: "extraosseous plasmacytoma" EXACT [DOID:3720, NCIT:C4002]
synonym: "plasmacytoma, extramedullary" EXACT [DOID:3720]
synonym: "plasmacytoma, extramedullary (not occurring in bone)" EXACT [DOID:3720]
xref: DOID:3720 {source="MONDO:equivalentTo"}
xref: ICD10CM:C90.2 {source="DOID:3720", source="MONDO:equivalentTo"}
xref: ICD10CM:C90.20 {source="DOID:3720"}
xref: ICD9:203.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9734/3 {source="NCIT:C4002"}
xref: MEDGEN:75843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4002 {source="DOID:3720", source="MONDO:equivalentTo"}
xref: ONCOTREE:EP {source="MONDO:equivalentTo"}
xref: SCTID:10639003 {source="DOID:3720"}
xref: SCTID:109987008 {source="DOID:3720"}
xref: SCTID:128921005 {source="DOID:3720"}
xref: SCTID:188718006 {source="DOID:3720", source="MONDO:equivalentTo"}
xref: UMLS:C0278619 {source="MEDGEN:75843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005615 {source="DOID:3720", source="NCIT:C4002"} ! plasmacytoma

[Term]
id: MONDO:0002755
name: solitary osseous plasmacytoma
def: "A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion." [NCIT:C7812]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "isolated osseous plasmacytoma" EXACT [DOID:3722, NCIT:C7812]
synonym: "isolated plasmacytoma of bone" EXACT [NCIT:C7812]
synonym: "solitary plasmacytoma of bone" EXACT [DOID:3722]
synonym: "SPB" RELATED ABBREVIATION [ONCOTREE:SPB]
xref: DOID:3722 {source="MONDO:equivalentTo"}
xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7812 {source="DOID:3722", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:SPB {source="MONDO:equivalentTo"}
xref: SCTID:42215000 {source="DOID:3722"}
xref: SCTID:426336007 {source="DOID:3722", source="MONDO:equivalentTo"}
xref: UMLS:C0272256 {source="MEDGEN:75777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005615 {source="DOID:3722", source="NCIT:C7812/inferred"} ! plasmacytoma

[Term]
id: MONDO:0002756
name: solitary plasmacytoma of chest wall
def: "A solitary plasmacytoma that arises from the chest wall." [NCIT:C6711]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chest wall plasmacytoma" EXACT [MONDO:patterns/location]
synonym: "chest wall solitary plasmacytoma" EXACT [NCIT:C6711]
synonym: "plasmacytoma of chest wall" EXACT [MONDO:design_pattern]
synonym: "solitary plasmacytoma of chest wall" EXACT [NCIT:C6711]
synonym: "solitary plasmacytoma of the chest wall" EXACT [DOID:3723, NCIT:C6711]
xref: DOID:3723 {source="MONDO:equivalentTo"}
xref: MEDGEN:232340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6711 {source="MONDO:equivalentTo", source="DOID:3723"}
xref: UMLS:C1332936 {source="MEDGEN:232340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005615 {source="DOID:3723", source="MONDO:Redundant", source="NCIT:C6711/inferred"} ! plasmacytoma
intersection_of: MONDO:0005615 ! plasmacytoma
intersection_of: disease_has_location UBERON:0016435 ! chest wall

[Term]
id: MONDO:0002757
name: acute allergic sanguinous otitis media
def: "A acute sanguinous otitis media caused by an allergen." [DOID:3728, PMID:15301306]
xref: DOID:3728 {source="MONDO:equivalentTo"}
xref: ICD9:381.06 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3728"}
xref: MEDGEN:509958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:17866004 {source="MONDO:equivalentTo", source="DOID:3728"}
xref: SCTID:194243008 {source="DOID:3728"}
xref: UMLS:C0155420 {source="MEDGEN:509958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002737 {source="DOID:3728"} ! acute sanguinous otitis media
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0002758
name: vulva verrucous carcinoma
def: "A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border." [NCIT:C6383]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mammalian vulva verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "verrucous carcinoma of the vulva" EXACT [NCIT:C6383]
synonym: "verrucous carcinoma of vulva" EXACT [DOID:3740, NCIT:C6383]
synonym: "vulvar verrucous carcinoma" EXACT [NCIT:C6383]
xref: DOID:3740 {source="MONDO:equivalentTo"}
xref: MEDGEN:234482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6383 {source="DOID:3740", source="MONDO:equivalentTo"}
xref: UMLS:C1336983 {source="MEDGEN:234482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006006 {source="DOID:3740", source="MONDO:Redundant", source="NCIT:C6383"} ! verrucous carcinoma
is_a: MONDO:0024609 {source="DOID:3740", source="MONDO:Redundant", source="NCIT:C6383"} ! vulvar squamous cell carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002759
name: bladder verrucous carcinoma
def: "A verrucous carcinoma that involves the urinary bladder." [MONDO:patterns/location]
synonym: "bladder verrucous carcinoma" EXACT [NCIT:C39832]
synonym: "bladder verrucous squamous cell carcinoma" EXACT [NCIT:C39832]
synonym: "urinary bladder verrucous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3741 {source="MONDO:equivalentTo"}
xref: MEDGEN:267376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39832 {source="DOID:3741", source="MONDO:equivalentTo"}
xref: UMLS:C1511208 {source="MEDGEN:267376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002760 {source="DOID:3741", source="MONDO:Redundant", source="NCIT:C39832"} ! bladder squamous cell carcinoma
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C39832"} ! verrucous carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0002760
name: bladder squamous cell carcinoma
def: "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." [NCIT:C4031]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder epidermoid carcinoma" EXACT [NCIT:C4031]
synonym: "bladder squamous cell cancer" EXACT [NCIT:C4031]
synonym: "bladder squamous cell carcinoma" EXACT [MONDO:0006114, NCIT:C4031]
synonym: "BLSC" RELATED ABBREVIATION [ONCOTREE:BLSC]
synonym: "epidermoid carcinoma of bladder" EXACT [NCIT:C4031]
synonym: "epidermoid carcinoma of the bladder" EXACT [NCIT:C4031]
synonym: "epidermoid carcinoma of the urinary bladder" EXACT [DOID:3742, NCIT:C4031]
synonym: "epidermoid carcinoma of urinary bladder" EXACT [NCIT:C4031]
synonym: "squamous cell carcinoma of bladder" EXACT [NCIT:C4031]
synonym: "squamous cell carcinoma of the bladder" EXACT [NCIT:C4031]
synonym: "squamous cell carcinoma of the urinary bladder" EXACT [NCIT:C4031]
synonym: "squamous cell carcinoma of urinary bladder" EXACT [NCIT:C4031]
synonym: "urinary bladder epidermoid carcinoma" EXACT [NCIT:C4031]
synonym: "urinary bladder squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4031]
xref: DOID:3742 {source="MONDO:equivalentTo"}
xref: EFO:1000130 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:124645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4031 {source="EFO:1000130", source="DOID:3742", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:BLSC {source="MONDO:equivalentTo"}
xref: SCTID:255111004 {source="DOID:3742", source="MONDO:equivalentTo"}
xref: UMLS:C0279681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124645"}
is_a: MONDO:0004986 {source="DOID:3742", source="EFO:1000130", source="MONDO:Redundant", source="NCIT:C4031"} ! urinary bladder carcinoma
is_a: MONDO:0005096 {source="DOID:3742", source="EFO:1000130", source="MONDO:Redundant", source="NCIT:C4031"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0002761
name: cervical verrucous carcinoma
def: "A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present." [NCIT:C40190]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical verrucous carcinoma" EXACT [NCIT:C40190]
synonym: "uterine cervix verrucous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3743 {source="MONDO:equivalentTo"}
xref: MEDGEN:275713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40190 {source="MONDO:equivalentTo", source="DOID:3743", source="MONDO:exact-label-match"}
xref: UMLS:C1516435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275713"}
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C40190"} ! verrucous carcinoma
is_a: MONDO:0006143 {source="DOID:3743", source="MONDO:Redundant", source="NCIT:C40190"} ! cervical squamous cell carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0002762
name: esophagus verrucous carcinoma
def: "A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)" [NCIT:C27420]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophageal verrucous cancer" EXACT [NCIT:C27420]
synonym: "esophageal verrucous carcinoma" EXACT [NCIT:C27420]
synonym: "esophagus verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "verrucous carcinoma of esophagus" EXACT [DOID:3747, NCIT:C27420]
synonym: "verrucous carcinoma of oesophagus" EXACT OMO:0003005 []
synonym: "verrucous carcinoma of the esophagus" EXACT [DOID:3747, NCIT:C27420]
synonym: "verrucous carcinoma of the oesophagus" EXACT OMO:0003005 []
xref: DOID:3747 {source="MONDO:equivalentTo"}
xref: MEDGEN:272594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27420 {source="MONDO:equivalentTo", source="DOID:3747"}
xref: UMLS:C1333470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272594"}
is_a: MONDO:0005580 {source="DOID:3747", source="MONDO:Redundant", source="NCIT:C27420"} ! esophageal squamous cell carcinoma
is_a: MONDO:0006006 {source="DOID:3747", source="MONDO:Redundant", source="NCIT:C27420"} ! verrucous carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0002763
name: urethral verrucous carcinoma
def: "A verrucous carcinoma that involves the urethra." [MONDO:patterns/location]
synonym: "urethra verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "urethral verrucous carcinoma" EXACT [NCIT:C39874]
xref: DOID:3749 {source="MONDO:equivalentTo"}
xref: MEDGEN:274359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39874 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3749"}
xref: UMLS:C1519827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274359"}
is_a: MONDO:0002764 {source="DOID:3749", source="MONDO:Redundant", source="NCIT:C39874"} ! urethra squamous cell carcinoma
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C39874"} ! verrucous carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0002764
name: urethra squamous cell carcinoma
def: "A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "epidermoid carcinoma of the urethra" EXACT [NCIT:C6165]
synonym: "epidermoid carcinoma of urethra" EXACT [NCIT:C6165]
synonym: "squamous cell carcinoma of the urethra" EXACT [NCIT:C6165]
synonym: "squamous cell carcinoma of urethra" EXACT [NCIT:C6165]
synonym: "urethra epidermoid carcinoma" EXACT [NCIT:C6165]
synonym: "urethra squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6165]
synonym: "urethral epidermoid carcinoma" EXACT [DOID:3750, NCIT:C6165]
synonym: "urethral squamous cell cancer" EXACT [NCIT:C6165]
synonym: "urethral squamous cell carcinoma" EXACT [NCIT:C6165]
synonym: "USCC" RELATED ABBREVIATION [ONCOTREE:USCC]
xref: DOID:3750 {source="MONDO:equivalentTo"}
xref: MEDGEN:234975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6165 {source="DOID:3750", source="MONDO:equivalentTo"}
xref: ONCOTREE:USCC {source="MONDO:equivalentTo"}
xref: UMLS:C1336890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234975"}
is_a: MONDO:0004192 {source="DOID:3750", source="MONDO:0002764/inferred", source="MONDO:Redundant", source="NCIT:C6165/inferred", source="ONCOTREE:USCC"} ! urethra cancer
is_a: MONDO:0005096 {source="DOID:3750", source="MONDO:Redundant", source="NCIT:C6165"} ! squamous cell carcinoma
is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C6165"} ! carcinoma of urethra
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0002765
name: plantar verrucous skin carcinoma
def: "A verrucous carcinoma that involves the plantar part of pes." [MONDO:patterns/location]
synonym: "plantar part of pes verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "plantar verrucous carcinoma of skin" EXACT [NCIT:C6811]
synonym: "plantar verrucous carcinoma of the skin" EXACT [NCIT:C6811]
synonym: "plantar verrucous skin carcinoma" EXACT [NCIT:C6811]
xref: DOID:3751 {source="MONDO:equivalentTo"}
xref: MEDGEN:578859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6811 {source="DOID:3751", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0349657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:578859"}
is_a: MONDO:0002529 {source="DOID:3751", source="NCIT:C6811"} ! skin squamous cell carcinoma
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C6811"} ! verrucous carcinoma
intersection_of: MONDO:0006006 {source="NCIT:C6811"} ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0008338 {source="NCIT:C6811"} ! plantar part of pes

[Term]
id: MONDO:0002766
name: larynx verrucous carcinoma
def: "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." [NCIT:C8188]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "laryngeal throat verrucous cancer" EXACT [NCIT:C8188]
synonym: "laryngeal verrucous carcinoma" EXACT [NCIT:C8188]
synonym: "larynx verrucous carcinoma" EXACT [MONDO:patterns/location, NCIT:C8188]
synonym: "verrucous carcinoma of larynx" EXACT [NCIT:C8188]
synonym: "verrucous carcinoma of the larynx" EXACT [DOID:3752, NCIT:C8188]
xref: DOID:3752 {source="MONDO:equivalentTo"}
xref: MEDGEN:76097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8188 {source="DOID:3752", source="MONDO:equivalentTo"}
xref: SCTID:707427000 {source="MONDO:equivalentTo"}
xref: UMLS:C0280328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76097"}
is_a: MONDO:0005595 {source="DOID:3752", source="MONDO:Redundant", source="NCIT:C8188"} ! laryngeal squamous cell carcinoma
is_a: MONDO:0006006 {source="DOID:3752", source="MONDO:Redundant", source="NCIT:C8188"} ! verrucous carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0002767
name: obsolete protein C deficiency
def: "OBSOLETE. A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism." [NCIT:C99025]
is_obsolete: true
replaced_by: MONDO:0019145

[Term]
id: MONDO:0002768
name: true hermaphroditism
def: "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia." [NCIT:C85207]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hermaphroditism" EXACT [NCIT:C85207]
synonym: "ovotestis" EXACT [NCIT:C85207]
synonym: "true hermaphroditism" EXACT [NCIT:C85207]
xref: DOID:3763 {source="MONDO:equivalentTo"}
xref: MEDGEN:78595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012734 {source="DOID:3763"}
xref: NCIT:C45909 {source="DOID:3763", source="MONDO:otherHierarchy"}
xref: NCIT:C85207 {source="MONDO:equivalentTo"}
xref: SCTID:237821001 {source="DOID:3763", source="MONDO:equivalentTo"}
xref: SCTID:52572004 {source="DOID:3763"}
xref: UMLS:C0266361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78595"}
is_a: MONDO:0002145 {source="DOID:3763"} ! disorder of sexual differentiation

[Term]
id: MONDO:0002769
name: leukorrhea
def: "Whitish or yellowish mucosal vaginal discharge." [NCIT:P378]
synonym: "discharge - leukorrhea" EXACT [DOID:3766]
synonym: "leukorrhea of vagina" EXACT [DOID:3766]
xref: DOID:3766 {source="MONDO:equivalentTo"}
xref: ICD10CM:N89.8 {source="DOID:3766"}
xref: MEDGEN:44134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007973 {source="DOID:3766", source="MONDO:equivalentTo"}
xref: NCIT:C34775 {source="DOID:3766", source="MONDO:otherHierarchy"}
xref: SCTID:11057009 {source="DOID:3766"}
xref: SCTID:156017008 {source="DOID:3766"}
xref: SCTID:237101004 {source="DOID:3766"}
xref: SCTID:266664009 {source="DOID:3766"}
xref: SCTID:278070007 {source="DOID:3766"}
xref: SCTID:289552002 {source="DOID:3766"}
xref: SCTID:70856007 {source="DOID:3766"}
xref: UMLS:C0023533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44134"}
is_a: MONDO:0002770 {source="DOID:3766", source="MESH:D007973"} ! vaginal discharge

[Term]
id: MONDO:0002770
name: vaginal discharge
def: "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer." [NCIT:C50795]
synonym: "Discharge, vaginal" EXACT [NCIT:C50795]
xref: DOID:3767 {source="MONDO:equivalentTo"}
xref: MEDGEN:65302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019522 {source="MONDO:equivalentTo", source="DOID:3767"}
xref: NCIT:C50795 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:3767"}
xref: SCTID:139439007 {source="DOID:3767"}
xref: SCTID:162159008 {source="DOID:3767"}
xref: SCTID:198369007 {source="DOID:3767"}
xref: SCTID:271939006 {source="DOID:3767"}
xref: SCTID:70856007 {source="DOID:3767"}
xref: UMLS:C0227791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65302"}
is_a: MONDO:0001433 {source="DOID:3767", source="MESH:D019522"} ! vaginal disorder

[Term]
id: MONDO:0002771
name: pulmonary fibrosis
def: "Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause)." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibrosis of lung" EXACT [DOID:3770]
synonym: "pulmonary interstitial fibrosis" EXACT [NCIT:C26869]
xref: DOID:3770 {source="MONDO:equivalentTo"}
xref: EFO:0009448 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:11028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011658 {source="DOID:3770", source="MONDO:equivalentTo"}
xref: NCIT:C26869 {source="DOID:3770", source="MONDO:equivalentTo"}
xref: SCTID:155613001 {source="DOID:3770"}
xref: SCTID:196121006 {source="DOID:3770"}
xref: SCTID:51615001 {source="DOID:3770", source="MONDO:equivalentTo"}
xref: UMLS:C0034069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11028"}
is_a: MONDO:0015925 {source="DOID:3770"} ! interstitial lung disease

[Term]
id: MONDO:0002772
name: intraventricular meningioma
def: "A meningioma that affects the ventricles of the brain." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain ventricle meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of brain ventricle" EXACT []
xref: DOID:3772 {source="MONDO:equivalentTo"}
xref: MEDGEN:232669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:3772"}
xref: NCIT:C5273 {source="DOID:3772", source="MONDO:equivalentTo"}
xref: UMLS:C1334271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232669"}
is_a: MONDO:0002682 {source="DOID:3772", source="NCIT:C5273"} ! cerebral ventricle cancer
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0004086 ! brain ventricle
relationship: excluded_subClassOf MONDO:0003772 {source="DOID:3772", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral meningioma

[Term]
id: MONDO:0002773
name: obsolete MONDO:0002773
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016706

[Term]
id: MONDO:0002774
name: obsolete chordoid glioma
is_obsolete: true
replaced_by: MONDO:0016706

[Term]
id: MONDO:0002775
name: anovulation
def: "The absence of ovulation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3781 {source="MONDO:equivalentTo"}
xref: MEDGEN:1951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000858 {source="DOID:3781", source="MONDO:equivalentTo"}
xref: NCIT:C34388 {source="DOID:3781", source="MONDO:otherHierarchy"}
xref: SCTID:34571000 {source="DOID:3781"}
xref: UMLS:C0003128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1951"}
is_a: MONDO:0005558 {source="DOID:3781", source="MESH:D000858"} ! ovarian disorder

[Term]
id: MONDO:0002776
name: external ear disorder
def: "A disease involving the external ear." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of external ear" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of external ear" EXACT []
synonym: "disorder of external ear" EXACT [MONDO:patterns/location_top]
synonym: "external ear disease" EXACT [MONDO:patterns/location]
synonym: "external ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "external ear disorder" EXACT [NCIT:C26972]
synonym: "preauricular cyst" RELATED DUBIOUS [DOID:379]
synonym: "preauricular cyst (disorder)" RELATED DUBIOUS [DOID:379]
synonym: "preauricular sinus and fistula" EXACT [DOID:379]
synonym: "preauricular sinus and fistula (disorder)" RELATED DUBIOUS [DOID:379]
synonym: "preauricular sinus or fistula" RELATED DUBIOUS [DOID:379]
synonym: "preauricular sinus or fistula NOS (disorder)" RELATED DUBIOUS [DOID:379]
xref: DOID:379 {source="MONDO:equivalentTo"}
xref: EFO:0009668 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H60-H62 {source="DOID:379", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H61.9 {source="DOID:379"}
xref: ICD9:380 {source="DOID:379"}
xref: ICD9:380.9 {source="DOID:379"}
xref: ICD9:744.47 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26972 {source="DOID:379", source="MONDO:equivalentTo"}
xref: SCTID:155209003 {source="DOID:379"}
xref: SCTID:155216002 {source="DOID:379"}
xref: SCTID:194236002 {source="DOID:379"}
xref: SCTID:194664001 {source="DOID:379"}
xref: SCTID:267751009 {source="DOID:379"}
xref: SCTID:49130001 {source="DOID:379", source="MONDO:equivalentTo"}
xref: UMLS:C0155388 {source="MEDGEN:57606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002409 {source="DOID:379"} ! auditory system disorder
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C26972"} ! disorder of ear
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0002777
name: obsolete pleural empyema
is_obsolete: true
replaced_by: MONDO:0018667

[Term]
id: MONDO:0002778
name: epidural spinal canal meningioma
def: "A meningioma that arises in the epidural spinal canal space." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma of epidural spinal canal" EXACT [NCIT:C5310]
synonym: "meningioma of the epidural spinal canal" EXACT [NCIT:C5310]
xref: DOID:3809 {source="MONDO:equivalentTo"}
xref: MEDGEN:232462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5310 {source="DOID:3809", source="MONDO:equivalentTo"}
xref: UMLS:C1333417 {source="MEDGEN:232462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001279 {source="DOID:3809", source="NCIT:C5310"} ! intraspinal meningioma

[Term]
id: MONDO:0002779
name: central nervous system chondroma
def: "An extraskeletal chondroma usually arising from the dura." [NCIT:C7001]
synonym: "central nervous system chondroma" EXACT [MONDO:patterns/location, NCIT:C7001]
synonym: "central nervous system osteochondroma" EXACT [NCIT:C7001]
synonym: "chondroma of central nervous system" EXACT [NCIT:C7001]
synonym: "chondroma of CNS" EXACT [NCIT:C7001]
synonym: "chondroma of the central nervous system" EXACT [NCIT:C7001]
synonym: "chondroma of the CNS" EXACT [DOID:3813, NCIT:C7001]
synonym: "CNS chondroma" EXACT [NCIT:C7001]
synonym: "CNS osteochondroma" EXACT [NCIT:C7001]
synonym: "osteochondroma of central nervous system" EXACT [NCIT:C7001]
synonym: "osteochondroma of CNS" EXACT [NCIT:C7001]
synonym: "osteochondroma of the central nervous system" EXACT [NCIT:C7001]
synonym: "osteochondroma of the CNS" EXACT [NCIT:C7001]
xref: DOID:3813 {source="MONDO:equivalentTo"}
xref: MEDGEN:272474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7001 {source="MONDO:equivalentTo", source="DOID:3813", source="MONDO:exact-label-match"}
xref: UMLS:C1333019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272474"}
is_a: MONDO:0002360 {source="DOID:3813", source="MONDO:Redundant", source="NCIT:C7001/inferred"} ! chondroma
is_a: MONDO:0006423 {source="NCIT:C7001"} ! soft tissue chondroma
intersection_of: MONDO:0002360 ! chondroma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0002780
name: obsolete MONDO:0002780
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006423

[Term]
id: MONDO:0002781
name: glossopharyngeal nerve paralysis
def: "Paralysis of the glossopharyngeal nerve." [NCIT:P378]
synonym: "cranial nerve palsy of glossopharyngeal nerve" EXACT [MONDO:design_pattern]
synonym: "glossopharyngeal nerve cranial nerve palsy" EXACT [MONDO:patterns/location]
xref: DOID:3816 {source="MONDO:equivalentTo"}
xref: MEDGEN:1696475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27335 {source="MONDO:equivalentTo", source="DOID:3816"}
xref: UMLS:C5231192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1696475"}
is_a: MONDO:0002639 {source="DOID:3816", source="MONDO:Entailed", source="MONDO:Redundant"} ! glossopharyngeal nerve disorder
is_a: MONDO:0002782 {source="DOID:3816", source="MONDO:Redundant", source="NCIT:C27335"} ! cranial nerve palsy
intersection_of: MONDO:0002782 ! cranial nerve palsy
intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve

[Term]
id: MONDO:0002782
name: cranial nerve palsy
def: "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." [NCIT:C26941]
subset: otar {source="MONDO:OTAR"}
synonym: "cranial nerve palsies" RELATED [NCIT:C26941]
synonym: "cranial nerve palsy" EXACT [DOID:3817, NCIT:C26941]
synonym: "cranial nerve paralysis" EXACT [DOID:3817, NCIT:C26941]
xref: DOID:3817 {source="MONDO:equivalentTo"}
xref: EFO:0009489 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:57717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003389 {source="DOID:3817"}
xref: NCIT:C26941 {source="MONDO:equivalentTo", source="NCIT:C26941", source="DOID:3817"}
xref: SCTID:73013002 {source="DOID:3817"}
xref: UMLS:C0151311 {source="MEDGEN:57717", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003569 {source="DOID:3817", source="NCIT:C26941"} ! cranial nerve neuropathy
relationship: disease_has_feature HP:0001324 ! Muscle weakness

[Term]
id: MONDO:0002783
name: Shwartzman phenomenon
def: "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow." [MESH:D012790]
subset: gard_rare {source="GARD:7636", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Shwartzman reaction" EXACT [DOID:3825]
synonym: "Shwartzman reaction (function)" EXACT [DOID:3825]
xref: DOID:3825 {source="MONDO:equivalentTo"}
xref: GARD:7636 {source="MONDO:GARD"}
xref: MEDGEN:48656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012790 {source="MONDO:equivalentTo", source="DOID:3825"}
xref: SCTID:24453002 {source="DOID:3825"}
xref: UMLS:C0037018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48656"}
is_a: MONDO:0003159 {source="DOID:3825", source="MESH:D012790"} ! vascular hemostatic disease
is_a: MONDO:0018882 {source="DOID:3825", source="MESH:D012790"} ! vasculitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon" xsd:anyURI {source="GARD:0007636"}

[Term]
id: MONDO:0002784
name: obsolete craniopharyngioma
is_obsolete: true
replaced_by: MONDO:0006175

[Term]
id: MONDO:0002785
name: skull base neoplasm
def: "A benign or malignant neoplasm that affects the skull base." [NCIT:C4676]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basicranium neoplasm" EXACT []
synonym: "basicranium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "basicranium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "basicranium tumour" EXACT OMO:0003005 []
synonym: "neoplasm of basicranium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of skull base" EXACT [NCIT:C4676]
synonym: "neoplasm of the skull base" EXACT [NCIT:C4676]
synonym: "skull base cancer" RELATED [DOID:3842]
synonym: "skull base neoplasm" EXACT [NCIT:C4676]
synonym: "skull base tumor" EXACT [NCIT:C4676]
synonym: "skull base tumour" EXACT OMO:0003005 []
synonym: "tumor of basicranium" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of skull base" EXACT [NCIT:C4676]
synonym: "tumor of the skull base" EXACT [NCIT:C4676]
synonym: "tumors of skull base" EXACT [DOID:3842, NCIT:C4676]
synonym: "tumour of basicranium" EXACT OMO:0003005 []
synonym: "tumour of skull base" EXACT OMO:0003005 []
synonym: "tumour of the skull base" EXACT OMO:0003005 []
synonym: "tumours of skull base" EXACT OMO:0003005 []
xref: DOID:3842 {source="MONDO:equivalentTo"}
xref: MEDGEN:138208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019292 {source="MONDO:equivalentTo", source="DOID:3842"}
xref: NCIT:C4676 {source="MONDO:equivalentTo", source="DOID:3842", source="MONDO:exact-label-match"}
xref: UMLS:C0376527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138208"}
is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C4676/inferred"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002517 ! basicranium

[Term]
id: MONDO:0002786
name: diencephalic cancer
def: "A cancer involving a diencephalon." [MONDO:patterns/cancer]
synonym: "cancer of diencephalon" EXACT [MONDO:patterns/cancer]
synonym: "diencephalic neoplasm" RELATED [DOID:3843]
synonym: "diencephalon cancer" EXACT [MONDO:patterns/location]
synonym: "malignant diencephalic neoplasm" EXACT [DOID:3843, NCIT:C5126]
synonym: "malignant diencephalic neoplasms" EXACT [NCIT:C5126]
synonym: "malignant diencephalic tumor" EXACT [DOID:3843, NCIT:C5126]
synonym: "malignant diencephalic tumour" EXACT OMO:0003005 []
synonym: "malignant diencephalon neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of diencephalon" EXACT [MONDO:patterns/cancer]
synonym: "tumor of diencephalon" EXACT [DOID:3843, NCIT:C5125]
synonym: "tumour of diencephalon" EXACT OMO:0003005 []
xref: DOID:3843 {source="MONDO:equivalentTo"}
xref: MEDGEN:233659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5125 {source="DOID:3843"}
xref: NCIT:C5126 {source="DOID:3843", source="MONDO:equivalentTo"}
xref: UMLS:C1334576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233659"}
is_a: MONDO:0002071 {source="DOID:3843", source="NCIT:C5126"} ! supratentorial cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001894 ! diencephalon

[Term]
id: MONDO:0002787
name: adamantinous craniopharyngioma
def: "A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adamantinomatous craniopharyngioma" EXACT [NCIT:C4726]
synonym: "adamantinous craniopharyngioma (morphologic abnormality)" EXACT [DOID:3846]
synonym: "adamantinous neoplasm of Rathke's pouch" EXACT [NCIT:C4726]
synonym: "adamantinous Rathke's pouch neoplasm" EXACT [NCIT:C4726]
synonym: "adamantinous Rathke's pouch tumor" EXACT [DOID:3846, NCIT:C4726]
synonym: "adamantinous Rathke's pouch tumour" EXACT OMO:0003005 []
synonym: "adamantinous tumor of Rathke's pouch" EXACT [NCIT:C4726]
synonym: "adamantinous tumour of Rathke's pouch" EXACT OMO:0003005 []
synonym: "craniopharyngioma, adamantinomatous" EXACT [DOID:3846]
xref: DOID:3846 {source="MONDO:equivalentTo"}
xref: ICDO:9351/1 {source="NCIT:C4726"}
xref: MEDGEN:98126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003397 {source="DOID:3846"}
xref: NCIT:C4726 {source="MONDO:equivalentTo", source="DOID:3846"}
xref: SCTID:128781004 {source="DOID:3846"}
xref: SCTID:134216001 {source="DOID:3846"}
xref: UMLS:C0431129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98126"}
is_a: MONDO:0018907 {source="DOID:3846", source="NCIT:C4726"} ! craniopharyngioma

[Term]
id: MONDO:0002788
name: papillary craniopharyngioma
def: "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "craniopharyngioma, papillary" EXACT [DOID:3847]
synonym: "craniopharyngioma, papillary (morphologic abnormality)" EXACT [DOID:3847]
synonym: "papillary craniopharyngioma (morphologic abnormality)" EXACT [DOID:3847]
synonym: "papillary neoplasm of Rathke's pouch" EXACT [NCIT:C4725]
synonym: "papillary Rathke pouch neoplasm" EXACT [NCIT:C4725]
synonym: "papillary Rathke's pouch neoplasm" EXACT [NCIT:C4725]
synonym: "papillary Rathke's pouch tumor" EXACT [DOID:3847, NCIT:C4725]
synonym: "papillary Rathke's pouch tumour" EXACT OMO:0003005 []
synonym: "papillary tumor of Rathke's pouch" EXACT [NCIT:C4725]
synonym: "papillary tumour of Rathke's pouch" EXACT OMO:0003005 []
xref: DOID:3847 {source="MONDO:equivalentTo"}
xref: ICDO:9352/1 {source="NCIT:C4725"}
xref: MEDGEN:98125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003397 {source="DOID:3847"}
xref: NCIT:C4725 {source="MONDO:equivalentTo", source="DOID:3847"}
xref: SCTID:128782006 {source="DOID:3847"}
xref: SCTID:134215002 {source="DOID:3847"}
xref: UMLS:C0431128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98125"}
is_a: MONDO:0018907 {source="DOID:3847", source="NCIT:C4725"} ! craniopharyngioma

[Term]
id: MONDO:0002789
name: hemangiopericytic tumor
def: "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." [NCIT:P378]
comment: Editor note: TODO check relationship to spindle cell tumor
synonym: "hemangiopericytic neoplasm" EXACT [DOID:3850, MONDO:0006240]
xref: DOID:3850 {source="MONDO:equivalentTo"}
xref: MEDGEN:99196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7076 {source="DOID:3850", source="EFO:1000289", source="MONDO:equivalentTo"}
xref: SCTID:189866002 {source="DOID:3850"}
xref: SCTID:189867006 {source="DOID:3850"}
xref: UMLS:C0476144 {source="MEDGEN:99196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002604 {source="DOID:3850"} ! pericytic neoplasm

[Term]
id: MONDO:0002790
name: seminal vesicle tumor
def: "A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma." [NCIT:P378]
synonym: "neoplasm of seminal vesicle" EXACT [MONDO:patterns/neoplasm]
synonym: "seminal vesicle neoplasm" EXACT [DOID:3855, NCIT:C39908]
synonym: "seminal vesicle neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "seminal vesicle tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of seminal vesicle" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of seminal vesicle" EXACT OMO:0003005 []
xref: DOID:3855 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39908 {source="MONDO:equivalentTo", source="DOID:3855"}
xref: SCTID:236740006 {source="MONDO:equivalentTo", source="DOID:3855"}
xref: UMLS:C0341767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90967"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000998 ! seminal vesicle

[Term]
id: MONDO:0002791
name: large cell medulloblastoma
def: "A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma." [NCIT:C6904]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "large cell medulloblastoma" EXACT [DOID:3857, NCIT:C6904]
synonym: "large cell medulloblastoma (morphologic abnormality)" EXACT [DOID:3857]
xref: DOID:3857 {source="MONDO:equivalentTo"}
xref: EFO:0008508 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9474/3 {source="NCIT:C6904"}
xref: MEDGEN:226852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6904 {source="MONDO:equivalentTo", source="DOID:3857", source="MONDO:exact-label-match"}
xref: SCTID:128790006 {source="DOID:3857"}
xref: UMLS:C1266180 {source="MEDGEN:226852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007959 {source="DOID:3857", source="EFO:0008508", source="NCIT:C6904"} ! medulloblastoma

[Term]
id: MONDO:0002792
name: cerebellar vermis medulloblastoma
def: "A medulloblastoma arising from the vermis of the cerebellum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cerebellar vermis medulloblastoma" EXACT [MONDO:patterns/location]
synonym: "medulloblastoma of cerebellar vermis" EXACT [NCIT:C5401]
synonym: "medulloblastoma of the cerebellar vermis" EXACT [NCIT:C5401]
synonym: "vermis medulloblastoma" EXACT [DOID:3860, NCIT:C5401]
xref: DOID:3860 {source="MONDO:equivalentTo"}
xref: MEDGEN:232044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5401 {source="DOID:3860", source="MONDO:equivalentTo"}
xref: UMLS:C1332903 {source="MEDGEN:232044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007959 {source="DOID:3860", source="MONDO:Redundant", source="NCIT:C5401"} ! medulloblastoma
intersection_of: MONDO:0007959 ! medulloblastoma
intersection_of: disease_has_location UBERON:0004720 ! cerebellar vermis

[Term]
id: MONDO:0002793
name: obsolete medullomyoblastoma
is_obsolete: true
replaced_by: MONDO:0006300

[Term]
id: MONDO:0002794
name: adult medulloblastoma
def: "A medulloblastoma arising from the brain, occurring in adults." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult brain medulloblastoma" EXACT [DOID:3864]
synonym: "medulloblastoma" BROAD [NCIT:C4011]
synonym: "medulloblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:3864 {source="MONDO:equivalentTo"}
xref: MEDGEN:78898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008527 {source="DOID:3864"}
xref: NANDO:2200090 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4011 {source="MONDO:equivalentTo", source="DOID:3864"}
xref: NCIT:C9373 {source="DOID:3864"}
xref: UMLS:C0278876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78898"}
is_a: MONDO:0007959 {source="DOID:3864", source="MONDO:Redundant", source="NCIT:C4011"} ! medulloblastoma
intersection_of: MONDO:0007959 ! medulloblastoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0002795
name: adult central nervous system primitive neuroectodermal neoplasm
def: "A central nervous system embryonal tumor, not otherwise specified that occurs in adults." [NCIT:C5411]
synonym: "adult central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5411]
synonym: "adult central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5411]
synonym: "adult central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5411]
synonym: "adult central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5411]
synonym: "adult central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "adult central primitive neuroectodermal neoplasm" EXACT [NCIT:C5411]
synonym: "adult central primitive neuroectodermal tumor" EXACT [NCIT:C5411]
synonym: "adult central primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "adult CNS PNET" EXACT [DOID:3865, NCIT:C5411]
synonym: "adult CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5411]
synonym: "adult CNS primitive neuroectodermal tumor" EXACT [NCIT:C5411]
synonym: "adult CNS primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "central nervous system primitive neuroectodermal neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:3865 {source="MONDO:equivalentTo"}
xref: MEDGEN:231039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5411 {source="DOID:3865", source="MONDO:equivalentTo"}
xref: UMLS:C1332196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231039"}
is_a: MONDO:0000640 {source="DOID:3865", source="MONDO:Redundant", source="NCIT:C5411"} ! central nervous system primitive neuroectodermal neoplasm
intersection_of: MONDO:0000640 ! central nervous system primitive neuroectodermal neoplasm
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0002796
name: melanotic medulloblastoma
def: "A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "medulloblastoma with melanotic differentiation" EXACT [NCIT:C9497]
synonym: "medulloblastoma, melanotic" EXACT [DOID:3868]
synonym: "medulloblastoma, melanotic (morphologic abnormality)" EXACT [DOID:3868]
synonym: "melanocytic medulloblastoma" EXACT [NCIT:C9497]
synonym: "melanotic medulloblastoma" EXACT [DOID:3868, NCIT:C9497]
synonym: "MMBL" RELATED ABBREVIATION [ONCOTREE:MMBL]
xref: DOID:3868 {source="MONDO:equivalentTo"}
xref: MEDGEN:224818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008527 {source="DOID:3868"}
xref: NCIT:C9497 {source="MONDO:equivalentTo", source="DOID:3868"}
xref: ONCOTREE:MMBL {source="MONDO:equivalentTo"}
xref: SCTID:397380008 {source="DOID:3868"}
xref: SCTID:83217000 {source="DOID:3868"}
xref: UMLS:C1275668 {source="MEDGEN:224818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007959 {source="DOID:3868", source="NCIT:C9497"} ! medulloblastoma

[Term]
id: MONDO:0002797
name: childhood medulloblastoma
def: "A medulloblastoma occurring in children." [NCIT:C3997]
subset: gard_rare {source="GARD:9350", source="MONDO:GARD"}
subset: rare
synonym: "childhood medulloblastoma" EXACT [NCIT:C3997]
synonym: "medulloblastoma" BROAD [NCIT:C3997]
synonym: "medulloblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "medulloblastoma, childhood" RELATED [GARD:0009350]
synonym: "paediatric medulloblastoma" EXACT OMO:0003005 []
synonym: "pediatric medulloblastoma" EXACT [DOID:3869, MONDO:patterns/childhood, NCIT:C3997]
xref: DOID:3869 {source="MONDO:equivalentTo"}
xref: GARD:9350 {source="MONDO:GARD"}
xref: MEDGEN:75829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008527 {source="DOID:3869"}
xref: NANDO:2200090 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3997 {source="MONDO:equivalentTo", source="DOID:3869"}
xref: UMLS:C0278510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75829"}
is_a: MONDO:0003263 {source="NCIT:C3997"} ! childhood cerebellar neoplasm
is_a: MONDO:0007959 {source="DOID:3869", source="MONDO:Redundant", source="NCIT:C3997"} ! medulloblastoma
intersection_of: MONDO:0007959 ! medulloblastoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood" xsd:anyURI {source="GARD:0009350"}

[Term]
id: MONDO:0002798
name: childhood central nervous system primitive neuroectodermal neoplasm
def: "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood." [NCIT:C5961]
synonym: "Central nervous system embryonal tumor, NOS" EXACT [NCIT:C5961]
synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5961]
synonym: "central nervous system primitive neuroectodermal neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5961]
synonym: "childhood central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5961]
synonym: "childhood central nervous system PNET" EXACT [NCIT:C5961]
synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "childhood central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "childhood central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "childhood central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "childhood central primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "childhood central primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "childhood CNS PNET" EXACT [NCIT:C5961]
synonym: "childhood CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "childhood CNS primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "childhood CNS primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "paediatric central nervous system primitive neuroectodermal neoplasm" EXACT OMO:0003005 []
synonym: "paediatric central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "paediatric central primitive neuroectodermal neoplasm" EXACT OMO:0003005 []
synonym: "paediatric central primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "paediatric CNS PNET" EXACT OMO:0003005 []
synonym: "paediatric CNS primitive neuroectodermal neoplasm" EXACT OMO:0003005 []
synonym: "paediatric CNS primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "pediatric central nervous system primitive neuroectodermal neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C5961]
synonym: "pediatric central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "pediatric central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "pediatric central primitive neuroectodermal tumor" EXACT [NCIT:C5961]
synonym: "pediatric CNS PNET" EXACT [DOID:3870, NCIT:C5961]
synonym: "pediatric CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5961]
synonym: "pediatric CNS primitive neuroectodermal tumor" EXACT [NCIT:C5961]
xref: DOID:3870 {source="MONDO:equivalentTo"}
xref: MEDGEN:232347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5961 {source="DOID:3870", source="MONDO:equivalentTo"}
xref: UMLS:C1332957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232347"}
is_a: MONDO:0000640 {source="DOID:3870", source="MONDO:Redundant", source="NCIT:C5961"} ! central nervous system primitive neuroectodermal neoplasm
intersection_of: MONDO:0000640 ! central nervous system primitive neuroectodermal neoplasm
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0002799
name: obsolete nodular medulloblastoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7184" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016710

[Term]
id: MONDO:0002800
name: thrombophlebitis
def: "Inflammation of the veins associated with the presence of a thrombus." [NCIT:C3410]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "phlebitis and thrombophlebitis of superficial vessels of lower extremities" EXACT [DOID:3875, ICD9CM:451.0]
synonym: "superficial thrombophlebitis of leg" EXACT [DOID:3875]
synonym: "thrombophlebitis of a superficial leg vein" EXACT [DOID:3875]
synonym: "thrombophlebitis of superficial veins of lower extremity" EXACT [DOID:3875]
xref: DOID:3875 {source="MONDO:equivalentTo"}
xref: ICD10CM:I80.0 {source="MONDO:equivalentTo", source="DOID:3875"}
xref: ICD9:451.0 {source="MONDO:equivalentTo", source="DOID:3875", source="MONDO:i2s"}
xref: ICD9:451.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013924 {source="MONDO:equivalentTo", source="DOID:3875"}
xref: NCIT:C3410 {source="MONDO:equivalentTo", source="DOID:3875", source="MONDO:exact-label-match"}
xref: SCTID:195401008 {source="DOID:3875"}
xref: SCTID:195433004 {source="DOID:3875"}
xref: SCTID:266266001 {source="DOID:3875"}
xref: SCTID:40283005 {source="MONDO:equivalentTo", source="DOID:3875"}
xref: SCTID:64156001 {source="DOID:3875"}
xref: UMLS:C0040046 {source="MEDGEN:11799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004625 {source="DOID:3875", source="MESH:D013924"} ! phlebitis

[Term]
id: MONDO:0002801
name: colonic pseudo-obstruction
def: "Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." [MESH:D003112]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACPO" RELATED ABBREVIATION [GARD:0007248]
synonym: "acute colonic ileus" RELATED [GARD:0007248]
synonym: "acute colonic pseudo-obstruction" RELATED [GARD:0007248]
synonym: "Ogilvie's syndrome" NARROW [GARD:0007248]
synonym: "primary chronic pseudo-obstruction of colon" EXACT [DOID:3876]
xref: DOID:3876 {source="MONDO:equivalentTo"}
xref: ICD9:564.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003112 {source="DOID:3876", source="MONDO:equivalentTo"}
xref: SCTID:35065006 {source="DOID:3876", source="MONDO:equivalentTo"}
xref: UMLS:C0009377 {source="MEDGEN:3167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002802 {source="DOID:3876", source="MESH:D003112"} ! functional colonic disease
is_a: MONDO:0002803 {source="DOID:3876", source="EFO:1000871", source="MESH:D003112"} ! intestinal pseudo-obstruction

[Term]
id: MONDO:0002802
name: functional colonic disease
def: "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category." [MESH:D003109]
xref: DOID:3877 {source="MONDO:equivalentTo"}
xref: MEDGEN:40395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003109 {source="MONDO:equivalentTo", source="DOID:3877"}
xref: UMLS:C0009374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40395"}
is_a: MONDO:0003409 {source="DOID:3877", source="MESH:D003109"} ! colonic disorder

[Term]
id: MONDO:0002803
name: intestinal pseudo-obstruction
def: "Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate." [https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction]
subset: gard_rare {source="GARD:6789", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Chronic intestinal pseudo-obstruction." EXACT []
synonym: "hollow visceral myopathy" RELATED [GARD:0006789]
synonym: "intestinal pseudo-obstruction" EXACT [DOID:3878, NCIT:C34733]
synonym: "intestinal pseudoobstruction" RELATED [GARD:0006789]
synonym: "intestine pseudoobstruction" EXACT [DOID:3878]
synonym: "pseudo-obstruction of intestine" EXACT [DOID:3878]
xref: DOID:3878 {source="MONDO:equivalentObsolete"}
xref: GARD:6789 {source="MONDO:GARD"}
xref: ICD9:569.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007418 {source="MONDO:equivalentTo", source="DOID:3878"}
xref: NCIT:C34733 {source="MONDO:equivalentTo", source="DOID:3878"}
xref: SCTID:235825006 {source="MONDO:equivalentTo", source="DOID:3878"}
xref: UMLS:C0021847 {source="MONDO:equivalentTo", source="MEDGEN:5864", source="MONDO:MEDGEN"}
is_a: MONDO:0004567 {source="DOID:3878", source="MESH:D007418"} ! ileus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction" xsd:anyURI {source="GARD:0006789"}

[Term]
id: MONDO:0002804
name: apocrine adenoma
def: "A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma." [NCIT:P378]
synonym: "tubular apocrine adenoma" NARROW [DOID:3895, NCIT:C27527]
xref: DOID:3895 {source="MONDO:equivalentTo"}
xref: ICDO:8401/0 {source="NCIT:C4168"}
xref: MEDGEN:90767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27527 {source="DOID:3895"}
xref: NCIT:C4168 {source="DOID:3895", source="MONDO:equivalentTo"}
xref: SCTID:307596009 {source="DOID:3895", source="MONDO:equivalentTo"}
xref: SCTID:36318001 {source="DOID:3895"}
xref: UMLS:C0334345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90767"}
is_a: MONDO:0003686 {source="DOID:3895", source="NCIT:C4168/inferred"} ! apocrine sweat gland neoplasm

[Term]
id: MONDO:0002805
name: hidradenoma
def: "A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma." [NCIT:C7563]
subset: otar {source="MONDO:OTAR"}
synonym: "acrospiroma" RELATED [NCIT:C7563]
synonym: "eccrine acrospiroma" RELATED [NCIT:C7563]
synonym: "hidradenoma" EXACT [NCIT:C7563]
synonym: "hidradenoma of skin" EXACT [DOID:3896]
synonym: "sweat gland adenoma" RELATED [DOID:3896, NCIT:C7560]
synonym: "syringoadenoma" EXACT [DOID:3896]
xref: DOID:3896 {source="MONDO:equivalentTo"}
xref: MESH:D006607 {source="DOID:3896"}
xref: NCIT:C7560 {source="DOID:3896"}
xref: NCIT:C7563 {source="DOID:3896", source="MONDO:equivalentTo"}
xref: SCTID:189051001 {source="DOID:3896"}
xref: SCTID:189664001 {source="DOID:3896"}
xref: SCTID:253020008 {source="DOID:3896"}
xref: SCTID:254719003 {source="DOID:3896"}
xref: SCTID:255182002 {source="DOID:3896"}
xref: SCTID:307574003 {source="DOID:3896"}
xref: SCTID:400099008 {source="MONDO:relatedTo", source="DOID:3896"}
xref: SCTID:81393009 {source="DOID:3896"}
is_a: MONDO:0002381 {source="DOID:3896", source="MONDO:Redundant", source="NCIT:C7563/inferred"} ! sweat gland neoplasm
is_a: MONDO:0021110 {source="NCIT:C7563"} ! sweat gland adenoma

[Term]
id: MONDO:0002806
name: bronchogenic carcinoma
def: "A lung carcinoma arising from the bronchial epithelium." [NCIT:C35875]
subset: otar {source="MONDO:OTAR"}
synonym: "BC - bronchogenic carcinoma" EXACT [DOID:3904]
synonym: "bronchial carcinoma" EXACT [NCIT:C35875]
synonym: "bronchiogenic carcinoma" EXACT [NCIT:C35875]
synonym: "bronchogenic carcinoma" EXACT [NCIT:C35875]
synonym: "bronchogenic lung cancer" EXACT [NCIT:C35875]
synonym: "bronchogenic lung carcinoma" EXACT [NCIT:C35875]
synonym: "bronchus carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of bronchus" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, bronchial, malignant" EXACT [NCIT:C35875]
xref: CSP:2017-6052 {source="DOID:3904"}
xref: DOID:3904 {source="MONDO:equivalentTo"}
xref: EFO:1001942 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:2872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002283 {source="MONDO:equivalentTo", source="DOID:3904"}
xref: NCIT:C35875 {source="MONDO:equivalentTo", source="DOID:3904"}
xref: SCTID:154485001 {source="DOID:3904"}
xref: SCTID:254622008 {source="MONDO:equivalentTo", source="DOID:3904"}
xref: SCTID:269561006 {source="DOID:3904"}
xref: SCTID:363493006 {source="DOID:3904"}
xref: UMLS:C0007121 {source="MONDO:equivalentTo", source="MEDGEN:2872", source="MONDO:MEDGEN"}
is_a: MONDO:0001672 {source="DOID:3904", source="MONDO:Redundant"} ! bronchus cancer
is_a: MONDO:0004993 {source="DOID:3904", source="EFO:1001942/inferred", source="MONDO:0002806/inferred", source="MONDO:Redundant", source="NCIT:C35875/inferred"} ! carcinoma
is_a: MONDO:0005138 {source="EFO:1001942", source="NCIT:C35875"} ! lung carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002185 ! bronchus
relationship: disease_arises_from_structure CL:0002328 ! bronchial epithelial cell

[Term]
id: MONDO:0002807
name: bronchial neoplasm
def: "Tumors or cancer of the bronchi." [MESH:D001984]
subset: otar {source="MONDO:OTAR"}
synonym: "bronchial neoplasm" EXACT [MONDO:ambiguous]
synonym: "bronchial neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "bronchus neoplasm" EXACT [DOID:3906]
synonym: "bronchus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "bronchus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "bronchus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of bronchus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of bronchus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of bronchus" EXACT OMO:0003005 []
xref: DOID:3906 {source="MONDO:equivalentTo"}
xref: EFO:1000849 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0030077 {source="MONDO:otherHierarchy"}
xref: MEDGEN:2735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001984 {source="MONDO:equivalentTo", source="DOID:3906"}
xref: NANDO:2200081 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:126705004 {source="MONDO:equivalentTo", source="DOID:3906"}
xref: UMLS:C0006264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2735"}
is_a: MONDO:0001358 {source="DOID:3906", source="MESH:D001984", source="MONDO:Redundant"} ! bronchial disorder
is_a: MONDO:0005070 {source="DOID:3906/inferred", source="EFO:1000849/inferred", source="MESH:D001984/inferred", source="MONDO:Entailed"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002185 ! bronchus
property_value: IAO:0000589 "bronchial neoplasm (disease)" xsd:string

[Term]
id: MONDO:0002808
name: pancreatic serous cystadenoma
def: "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss." [NCIT:C5712]
synonym: "pancreas serous cystadenoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic microcystic adenoma" EXACT [NCIT:C5712]
synonym: "pancreatic serous cystadenoma" EXACT [NCIT:C5712]
synonym: "PSC" RELATED ABBREVIATION [ONCOTREE:PSC]
synonym: "serous cystadenoma of pancreas" EXACT [NCIT:C5712]
synonym: "serous cystadenoma of the pancreas" EXACT [NCIT:C5712]
xref: DOID:3917 {source="MONDO:equivalentTo"}
xref: MEDGEN:233833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5712 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3917"}
xref: ONCOTREE:PSC {source="MONDO:equivalentTo"}
xref: UMLS:C1335316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233833"}
is_a: MONDO:0002809 {source="DOID:3917", source="NCIT:C5712"} ! pancreatic cystadenoma
is_a: MONDO:0005177 {source="MONDO:Redundant", source="NCIT:C5712"} ! serous cystadenoma
intersection_of: MONDO:0005177 ! serous cystadenoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0002809
name: pancreatic cystadenoma
def: "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas." [NCIT:C4374]
synonym: "cystadenoma of pancreas" EXACT [NCIT:C4374]
synonym: "cystadenoma of the pancreas" EXACT [NCIT:C4374]
synonym: "exocrine pancreas cystadenoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic cystadenoma" EXACT [NCIT:C4374]
xref: DOID:3918 {source="MONDO:equivalentTo"}
xref: MEDGEN:90963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4374 {source="DOID:3918", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:235967003 {source="DOID:3918", source="MONDO:equivalentTo"}
xref: UMLS:C0341486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90963"}
is_a: MONDO:0002369 {source="MONDO:Redundant", source="NCIT:C4374"} ! cystadenoma
is_a: MONDO:0021076 {source="MONDO:Redundant", source="NCIT:C4374/inferred"} ! pancreatic exocrine neoplasm
intersection_of: MONDO:0002369 ! cystadenoma
intersection_of: disease_has_location UBERON:0000017 ! exocrine pancreas

[Term]
id: MONDO:0002810
name: pancreatic serous cystic neoplasm
def: "A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma." [NCIT:C41248]
synonym: "pancreatic serous cystic neoplasm" EXACT [NCIT:C41248]
synonym: "pancreatic serous neoplasm" EXACT [NCIT:C41248]
xref: DOID:3919 {source="MONDO:equivalentTo"}
xref: MEDGEN:274122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41248 {source="DOID:3919", source="MONDO:equivalentTo"}
xref: UMLS:C1518875 {source="MEDGEN:274122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021076 {source="NCIT:C41248"} ! pancreatic exocrine neoplasm
relationship: disease_arises_from_structure UBERON:0006799 {source="NCIT:C41248"} ! glandular epithelium
relationship: disease_has_location UBERON:0000017 {source="NCIT:C41248"} ! exocrine pancreas

[Term]
id: MONDO:0002811
name: main bronchus cancer
def: "A malignant neoplasm involving the main bronchus." [https://orcid.org/0000-0002-6601-2165]
synonym: "Ca main bronchus" EXACT [DOID:3924]
synonym: "cancer of main bronchus" EXACT [MONDO:patterns/cancer]
synonym: "main bronchus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant main bronchus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of main bronchus" EXACT [DOID:3924, ICD9CM:162.2, MONDO:patterns/cancer]
xref: DOID:3924 {source="MONDO:equivalentTo"}
xref: ICD10CM:C34.0 {source="DOID:3924"}
xref: ICD9:162.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3924"}
xref: MEDGEN:509307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154487009 {source="DOID:3924"}
xref: SCTID:187856002 {source="DOID:3924"}
xref: SCTID:187859009 {source="DOID:3924"}
xref: SCTID:269563009 {source="DOID:3924"}
xref: SCTID:372065009 {source="MONDO:equivalentTo", source="DOID:3924"}
xref: UMLS:C0153490 {source="MEDGEN:509307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001672 {source="DOID:3924", source="MONDO:Redundant"} ! bronchus cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002182 ! main bronchus
relationship: excluded_subClassOf MONDO:0008903 {source="DOID:3924", source="https://orcid.org/0000-0001-5208-3432"} ! lung cancer

[Term]
id: MONDO:0002812
name: infectious otitis interna
def: "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology." [NCIT:C27339]
subset: otar {source="MONDO:OTAR"}
synonym: "infectious labyrinthitis" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "infectious otitis interna" EXACT [NCIT:C27339]
synonym: "inner Ear infection" EXACT [NCIT:C27339]
synonym: "inner ear infection" EXACT [DOID:3930]
synonym: "internal Ear infection" EXACT [NCIT:C27339]
xref: MEDGEN:217000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27339 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1168225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:217000"}
is_a: MONDO:0021666 {source="MONDO:Entailed", source="NCIT:C27339"} ! ear infection
intersection_of: MONDO:0002008 ! labyrinthitis
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease

[Term]
id: MONDO:0002813
name: lipomatous cancer
def: "A malignant mesenchymal neoplasm arising from adipocytes." [NCIT:C4501]
subset: otar {source="MONDO:OTAR"}
synonym: "adipose tissue cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of adipose tissue" EXACT [MONDO:patterns/cancer]
synonym: "malignant adipose tissue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4501]
synonym: "malignant adipose tissue tumor" EXACT [NCIT:C4501]
synonym: "malignant adipose tissue tumour" EXACT OMO:0003005 []
synonym: "malignant lipomatous neoplasm" EXACT [NCIT:C4501]
synonym: "malignant lipomatous tumor" EXACT [NCIT:C4501]
synonym: "malignant lipomatous tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of adipose tissue" EXACT [MONDO:patterns/cancer, NCIT:C4501]
synonym: "malignant neoplasm of the adipose tissue" EXACT [NCIT:C4501]
synonym: "malignant tumor of adipose tissue" EXACT [DOID:3939, NCIT:C4501]
synonym: "malignant tumor of the adipose tissue" EXACT [NCIT:C4501]
synonym: "malignant tumour of adipose tissue" EXACT OMO:0003005 []
synonym: "malignant tumour of the adipose tissue" EXACT OMO:0003005 []
xref: DOID:3939 {source="MONDO:equivalentObsolete"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NCIT:C4501 {source="MONDO:equivalentObsolete", source="DOID:3939"}
xref: SCTID:254828009 {source="MONDO:equivalentTo", source="DOID:3939"}
is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C4501"} ! tumor of adipose tissue
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001013 ! adipose tissue

[Term]
id: MONDO:0002814
name: adrenal carcinoma
def: "A carcinoma involving a adrenal gland." [MONDO:patterns/carcinoma]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal gland carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of adrenal gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the adrenal gland" EXACT [DOID:3950, NCIT:C9324]
xref: DOID:3950 {source="MONDO:equivalentTo"}
xref: SCTID:255035007 {source="MONDO:relatedTo", source="DOID:3950"}
is_a: MONDO:0002817 {source="DOID:3950", source="MONDO:Entailed", source="MONDO:Redundant"} ! adrenal gland cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002369 ! adrenal gland

[Term]
id: MONDO:0002815
name: acute myocarditis
def: "The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "myocarditis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:3951 {source="MONDO:equivalentTo"}
xref: ICD10CM:I40 {source="DOID:3951"}
xref: ICD10CM:I40.9 {source="DOID:3951"}
xref: ICD9:422 {source="DOID:3951"}
xref: ICD9:422.90 {source="DOID:3951", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:422.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:102339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35206 {source="DOID:3951", source="MONDO:equivalentTo"}
xref: SCTID:155336004 {source="DOID:3951"}
xref: SCTID:194953001 {source="DOID:3951"}
xref: SCTID:194961006 {source="DOID:3951"}
xref: SCTID:195569005 {source="DOID:3951"}
xref: SCTID:46701001 {source="DOID:3951", source="MONDO:equivalentTo"}
xref: UMLS:C0155686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102339"}
is_a: MONDO:0004496 {source="DOID:3951", source="MONDO:Redundant", source="NCIT:C35206"} ! myocarditis
intersection_of: MONDO:0004496 ! myocarditis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0002816
name: adrenal cortex disorder
def: "A disease involving the adrenal cortex." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adrenal cortex disease" EXACT [MONDO:patterns/location]
synonym: "adrenal cortex disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of adrenal cortex" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of adrenal cortex" EXACT []
synonym: "disorder of adrenal cortex" EXACT [MONDO:patterns/location_top]
xref: DOID:3952 {source="MONDO:equivalentTo"}
xref: MEDGEN:154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000303 {source="MONDO:equivalentTo", source="DOID:3952"}
xref: SCTID:129636003 {source="MONDO:equivalentTo", source="DOID:3952"}
xref: UMLS:C0001614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154"}
is_a: MONDO:0005495 {source="DOID:3952", source="MESH:D000303", source="MONDO:Redundant"} ! adrenal gland disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex

[Term]
id: MONDO:0002817
name: adrenal gland cancer
def: "A malignant neoplasm involving the adrenal gland" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal cancer" EXACT [DOID:3953, NCIT:C9338]
synonym: "adrenal gland cancer" EXACT [MONDO:patterns/location]
synonym: "adrenal neoplasm" BROAD [DOID:3953]
synonym: "cancer of adrenal gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant adrenal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9338]
synonym: "malignant adrenal gland tumor" EXACT [NCIT:C9338]
synonym: "malignant adrenal gland tumour" EXACT OMO:0003005 []
synonym: "malignant adrenal neoplasm" EXACT [NCIT:C9338]
synonym: "malignant adrenal tumor" EXACT [DOID:3953, NCIT:C9338]
synonym: "malignant adrenal tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of adrenal gland" EXACT [DOID:3953, ICD9CM:194.0, MONDO:patterns/cancer, NCIT:C9338]
synonym: "malignant neoplasm of the adrenal gland" EXACT [NCIT:C9338]
synonym: "malignant tumor of adrenal gland" EXACT [NCIT:C9338]
synonym: "malignant tumor of the adrenal gland" EXACT [NCIT:C9338]
synonym: "malignant tumour of adrenal gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the adrenal gland" EXACT OMO:0003005 []
synonym: "neoplasm of adrenal gland" BROAD EXCLUDE [DOID:3953]
synonym: "tumor of the adrenal gland" BROAD [DOID:3953, NCIT:C2859]
synonym: "tumour of the adrenal gland" BROAD OMO:0003005 []
xref: DOID:3953 {source="MONDO:equivalentTo"}
xref: ICD10CM:C74 {source="DOID:3953"}
xref: ICD10CM:C74.9 {source="DOID:3953"}
xref: ICD9:194.0 {source="DOID:3953"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:152909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000310 {source="DOID:3953", source="MONDO:equivalentTo"}
xref: NCIT:C2859 {source="DOID:3953"}
xref: NCIT:C9338 {source="DOID:3953", source="MONDO:equivalentTo"}
xref: SCTID:127021009 {source="DOID:3953", source="MONDO:equivalentTo"}
xref: SCTID:188337000 {source="DOID:3953"}
xref: SCTID:188338005 {source="DOID:3953"}
xref: SCTID:363355002 {source="DOID:3953"}
xref: SCTID:93665005 {source="DOID:3953"}
xref: UMLS:C0750887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152909"}
is_a: MONDO:0005495 {source="DOID:3953", source="MESH:D000310", source="MONDO:Redundant", source="NCIT:C9338/inferred"} ! adrenal gland disorder
is_a: MONDO:0005941 {source="NCIT:C9338"} ! retroperitoneal cancer
is_a: MONDO:0021069 {source="DOID:3953", source="MESH:D000310", source="MONDO:Redundant"} ! malignant endocrine neoplasm
is_a: MONDO:0021227 {source="MONDO:Redundant", source="NCIT:C9338"} ! adrenal gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002369 ! adrenal gland

[Term]
id: MONDO:0002818
name: obsolete adrenal cortical adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006639

[Term]
id: MONDO:0002819
name: obsolete Loeffler endocarditis
is_obsolete: true
replaced_by: MONDO:0019159

[Term]
id: MONDO:0002820
name: obsolete thyroid carcinoma
is_obsolete: true
replaced_by: MONDO:0015075

[Term]
id: MONDO:0002821
name: trabecular follicular adenocarcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "follicular adenocarcinoma, trabecular" EXACT [DOID:3964]
synonym: "follicular adenocarcinoma, trabecular (morphologic abnormality)" EXACT [DOID:3964]
synonym: "trabecular follicular carcinoma" EXACT [DOID:3964, NCIT:C7385]
xref: DOID:3964 {source="MONDO:equivalentTo"}
xref: MEDGEN:569646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:72174007 {source="DOID:3964"}
xref: UMLS:C0334327 {source="MEDGEN:569646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005034 {source="DOID:3964"} ! thyroid gland follicular carcinoma

[Term]
id: MONDO:0002822
name: trabecular adenocarcinoma
def: "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." [NCIT:C4068]
synonym: "Merkel cell carcinoma" RELATED [DOID:3965]
synonym: "trabecula adenocarcinoma" EXACT []
synonym: "trabecular adenocarcinoma" EXACT [NCIT:C4068]
synonym: "trabecular adenocarcinoma (morphologic abnormality)" EXACT [DOID:3965]
synonym: "trabecular carcinoma" EXACT [DOID:3965, NCIT:C4068]
xref: DOID:3965 {source="MONDO:equivalentTo"}
xref: ICDO:8190/3 {source="NCIT:C4068"}
xref: ICDO:8332/3 {source="NCIT:C4068"}
xref: MEDGEN:86214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4068 {source="MONDO:equivalentTo", source="DOID:3965"}
xref: SCTID:29792007 {source="DOID:3965"}
xref: UMLS:C0302182 {source="MEDGEN:86214", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="MONDO:Redundant", source="NCIT:C4068"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000440 ! trabecula

[Term]
id: MONDO:0002823
name: obsolete thyroid gland medullary carcinoma
is_obsolete: true
replaced_by: MONDO:0015277

[Term]
id: MONDO:0002824
name: extrinsic cardiomyopathy
def: "A cardiomyopathy that is not due to abnormalities in heart muscle cells." [https://www.emedicinehealth.com/cardiomyopathy/article_em.htm, Wikipedia:Cardiomyopathy]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "secondary cardiomyopathy" EXACT [Wikipedia:Cardiomyopathy]
xref: DOID:3978 {source="MONDO:equivalentTo"}
xref: ICD9:425.8 {source="DOID:3978"}
xref: MEDGEN:739084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:195029002 {source="MONDO:equivalentTo"}
xref: SCTID:195580005 {source="DOID:3978"}
xref: UMLS:C1689817 {source="MEDGEN:739084", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004994 {source="DOID:3978"} ! cardiomyopathy

[Term]
id: MONDO:0002825
name: obsolete Meige syndrome
is_obsolete: true
replaced_by: MONDO:0019772

[Term]
id: MONDO:0002826
name: obsolete tuberculosis
is_obsolete: true
replaced_by: MONDO:0018076

[Term]
id: MONDO:0002827
name: obsolete urinary system cancer
is_obsolete: true
replaced_by: MONDO:0006295

[Term]
id: MONDO:0002828
name: Bartholin gland transitional cell carcinoma
def: "A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Bartholin gland transitional cell carcinoma" EXACT [DOID:3998, NCIT:C40297]
synonym: "Bartholin's gland transitional cell carcinoma" EXACT [NCIT:C40297]
synonym: "major vestibular gland transitional cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3998 {source="MONDO:equivalentTo"}
xref: MEDGEN:267340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40297 {source="MONDO:equivalentTo", source="DOID:3998"}
xref: UMLS:C1511053 {source="MEDGEN:267340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002829 {source="DOID:3998", source="MONDO:Redundant", source="NCIT:C40297"} ! bartholin gland carcinoma
is_a: MONDO:0006474 {source="DOID:3998", source="MONDO:Redundant", source="NCIT:C40297"} ! transitional cell carcinoma
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0002829
name: bartholin gland carcinoma
def: "A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma." [NCIT:C9055]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bartholin gland cancer" EXACT [NCIT:C9055]
synonym: "bartholin gland carcinoma" EXACT [DOID:3999, MONDO:ambiguous, NCIT:C9055]
synonym: "Bartholin gland carcinoma (disease)" EXACT [MONDO:0006100]
synonym: "Bartholin's gland cancer" EXACT [DOID:3999, NCIT:C9055]
synonym: "Bartholin's gland carcinoma" EXACT [NCIT:C9055]
synonym: "carcinoma of Bartholin's gland" EXACT [DOID:3999, NCIT:C9055]
synonym: "carcinoma of major vestibular gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the Bartholin's gland" EXACT [NCIT:C9055]
synonym: "major vestibular gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3999 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:60003 {source="MONDO:equivalentTo"}
xref: EFO:1000103 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0030419 {source="MONDO:otherHierarchy"}
xref: MEDGEN:83888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9055 {source="MONDO:equivalentTo", source="DOID:3999", source="EFO:1000103"}
xref: SCTID:276876007 {source="MONDO:equivalentTo", source="DOID:3999"}
xref: SCTID:399533005 {source="DOID:3999"}
xref: UMLS:C0349561 {source="MONDO:equivalentTo", source="MEDGEN:83888", source="MONDO:MEDGEN"}
is_a: MONDO:0005215 {source="DOID:3999", source="EFO:1000103", source="MONDO:Redundant", source="NCIT:C9055"} ! vulvar carcinoma
is_a: MONDO:0021114 {source="MONDO:Redundant", source="NCIT:C9055"} ! Bartholin gland neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0002830
name: obsolete ovary transitional cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006343

[Term]
id: MONDO:0002831
name: non-keratinizing sinonasal squamous cell carcinoma
def: "A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization." [NCIT:C54287]
comment: Editor note: TODO check ONCOTREE mapping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cylindrical cell carcinoma" EXACT [DOID:4003]
synonym: "non-keratinizing sinonasal squamous cell carcinoma" EXACT [NCIT:C54287]
synonym: "Ringertz carcinoma" RELATED [NCIT:C54287]
synonym: "Schneiderian carcinoma" RELATED [NCIT:C54287]
synonym: "Sinonasal cylindrical cell carcinoma" RELATED [NCIT:C54287]
synonym: "Sinonasal Schneiderian carcinoma" RELATED [NCIT:C54287]
synonym: "sinonasal squamous cell carcinoma" RELATED [ONCOTREE:SNSC]
synonym: "Sinonasal transitional cell carcinoma" RELATED [NCIT:C54287]
xref: DOID:4003 {source="MONDO:equivalentTo"}
xref: ICDO:8121/3 {source="NCIT:C54287"}
xref: MEDGEN:83119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54287 {source="DOID:4003", source="MONDO:equivalentTo", source="NCIT:C54287"}
xref: ONCOTREE:SNSC {source="MONDO:equivalentTo"}
xref: SCTID:5600009 {source="DOID:4003"}
xref: UMLS:C0334270 {source="MEDGEN:83119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044787 {source="NCIT:C54287"} ! nasal cavity and paranasal sinus squamous cell carcinoma
relationship: excluded_subClassOf MONDO:0001748 {source="DOID:4003", source="https://orcid.org/0000-0001-5208-3432"} ! maxillary sinus carcinoma

[Term]
id: MONDO:0002832
name: endometrial transitional cell carcinoma
def: "A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells." [NCIT:C40154]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "endometrial transitional cell carcinoma" EXACT [NCIT:C40154]
xref: DOID:4005 {source="MONDO:equivalentTo"}
xref: MEDGEN:273232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40154 {source="DOID:4005", source="MONDO:equivalentTo"}
xref: UMLS:C1516864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273232"}
is_a: MONDO:0002447 {source="DOID:4005", source="NCIT:C40154"} ! endometrial carcinoma
is_a: MONDO:0006474 {source="NCIT:C40154"} ! transitional cell carcinoma

[Term]
id: MONDO:0002833
name: fallopian tube transitional cell carcinoma
def: "A rare transitional cell carcinoma that arises from the fallopian tube." [NCIT:C40104]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube transitional cell cancer" EXACT [NCIT:C40104]
synonym: "fallopian tube transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C40104]
xref: DOID:4008 {source="MONDO:equivalentTo"}
xref: MEDGEN:274492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40104 {source="DOID:4008", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1517128 {source="MEDGEN:274492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006206 {source="DOID:4008", source="MONDO:Redundant", source="NCIT:C40104"} ! fallopian tube carcinoma
is_a: MONDO:0006474 {source="DOID:4008", source="MONDO:Redundant", source="NCIT:C40104"} ! transitional cell carcinoma
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0002834
name: primary prostate urothelial carcinoma
def: "An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra." [NCIT:C39898]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "primary prostate urothelial cancer" EXACT [NCIT:C39898]
synonym: "primary prostate urothelial carcinoma" EXACT [NCIT:C39898]
synonym: "prostate gland transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "prostate transitional cell carcinoma" EXACT [NCIT:C39898]
synonym: "prostate urothelial carcinoma" EXACT [NCIT:C39898]
synonym: "transitional cell carcinoma of prostate" EXACT [DOID:4011, NCIT:C39898, NCIT:C5540]
synonym: "transitional cell carcinoma of the prostate" EXACT [NCIT:C39898]
xref: DOID:4011 {source="MONDO:equivalentTo"}
xref: MEDGEN:271382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39898 {source="MONDO:equivalentTo"}
xref: UMLS:C1514430 {source="MONDO:equivalentTo", source="MEDGEN:271382", source="MONDO:MEDGEN"}
is_a: MONDO:0005159 {source="DOID:4011", source="MONDO:Redundant", source="NCIT:C39898"} ! prostate carcinoma
is_a: MONDO:0006474 {source="DOID:4011", source="MONDO:0002834/inferred", source="MONDO:Entailed", source="NCIT:C39898/inferred"} ! transitional cell carcinoma
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0002835
name: obsolete papillary transitional carcinoma
is_obsolete: true
replaced_by: MONDO:0006350

[Term]
id: MONDO:0002836
name: urethra transitional cell carcinoma
def: "A transitional cell carcinoma that arises from the male or female urethra." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "transitional cell carcinoma of the urethra" EXACT [NCIT:C6166]
synonym: "transitional cell carcinoma of urethra" EXACT [NCIT:C6166]
synonym: "UCU" RELATED ABBREVIATION [ONCOTREE:UCU]
synonym: "urethra transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "urethral transitional cell carcinoma" EXACT [DOID:4013, NCIT:C6166]
synonym: "urethral urothelial cancer" EXACT [NCIT:C6166]
synonym: "urethral urothelial carcinoma" EXACT [NCIT:C6166]
xref: DOID:4013 {source="MONDO:equivalentTo"}
xref: MEDGEN:167840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6166 {source="DOID:4013", source="MONDO:equivalentTo"}
xref: ONCOTREE:UCU {source="MONDO:equivalentTo"}
xref: UMLS:C0863015 {source="MEDGEN:167840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004192 {source="DOID:4013", source="MONDO:0002836/inferred", source="MONDO:Redundant", source="NCIT:C6166/inferred", source="ONCOTREE:UCU"} ! urethra cancer
is_a: MONDO:0006474 {source="DOID:4013", source="MONDO:0002836/inferred", source="MONDO:Entailed", source="NCIT:C6166/inferred"} ! transitional cell carcinoma
is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C6166"} ! carcinoma of urethra
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0002837
name: sarcomatoid transitional cell carcinoma
def: "A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features." [NCIT:C4120]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sarcomatoid transitional cell carcinoma" EXACT [NCIT:C4120]
synonym: "transitional cell carcinoma, sarcomatoid" EXACT [DOID:4014]
synonym: "transitional cell spindle cell carcinoma" EXACT [NCIT:C4120]
synonym: "transitional spindle cell carcinoma" EXACT [DOID:4014, NCIT:C4120]
xref: DOID:4014 {source="MONDO:equivalentTo"}
xref: ICDO:8122/3 {source="NCIT:C4120"}
xref: MEDGEN:83120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4120 {source="DOID:4014", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:112676006 {source="DOID:4014"}
xref: UMLS:C0334271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83120"}
is_a: MONDO:0006406 {source="NCIT:C4120"} ! sarcomatoid carcinoma
is_a: MONDO:0006474 {source="DOID:4014", source="NCIT:C4120"} ! transitional cell carcinoma

[Term]
id: MONDO:0002838
name: obsolete spindle cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006406

[Term]
id: MONDO:0002839
name: obsolete leather-bottle stomach
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:7345 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"}
xref: UMLS:C0023743 {source="MEDGEN:7345", source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7459" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018184

[Term]
id: MONDO:0002840
name: eosinophilic gastritis
def: "An eosinophilic gastroenteritis that is characterized by inflammation of the stomach." [https://github.com/monarch-initiative/mondo/issues/403#issuecomment-601466719]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "eosinophilic gastritis" EXACT [NCIT:C27052]
xref: DOID:4030 {source="MONDO:equivalentTo"}
xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:535.7 {source="DOID:4030"}
xref: ICD9:535.70 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:120598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535952 {source="DOID:4030"}
xref: NCIT:C27052 {source="MONDO:equivalentTo", source="DOID:4030"}
xref: SCTID:196738004 {source="DOID:4030"}
xref: SCTID:66329006 {source="MONDO:equivalentTo", source="DOID:4030"}
xref: UMLS:C0267154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120598"}
is_a: MONDO:0004966 {source="DOID:4030", source="NCIT:C27052"} ! gastritis
is_a: MONDO:0016129 {source="NCIT:C27052"} ! eosinophilic gastroenteritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/403" xsd:anyURI

[Term]
id: MONDO:0002841
name: obsolete eosinophilic gastroenteritis
is_obsolete: true
replaced_by: MONDO:0016129

[Term]
id: MONDO:0002842
name: bacterial gastritis
def: "Gastritis resulting from bacteria." [NCIT:C27340]
synonym: "Bacteria caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria gastritis (disease)" EXACT []
synonym: "bacterial gastritis" EXACT [NCIT:C27340]
xref: DOID:4033 {source="MONDO:equivalentTo"}
xref: MEDGEN:182680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27340 {source="MONDO:equivalentTo", source="DOID:4033"}
xref: SCTID:723096000 {source="MONDO:equivalentTo"}
xref: UMLS:C0948039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:182680"}
is_a: MONDO:0004966 {source="DOID:4033", source="MONDO:Redundant", source="NCIT:C27340"} ! gastritis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria
intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach

[Term]
id: MONDO:0002843
name: fungal gastritis
def: "Gastritis resulting from fungi." [NCIT:C27342]
synonym: "fungal gastritis" EXACT [NCIT:C27342]
synonym: "Fungi caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi gastritis (disease)" EXACT []
xref: DOID:4034 {source="MONDO:equivalentTo"}
xref: MEDGEN:181761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27342 {source="DOID:4034", source="MONDO:equivalentTo"}
xref: SCTID:723097009 {source="MONDO:equivalentTo"}
xref: UMLS:C0948638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181761"}
is_a: MONDO:0004966 {source="DOID:4034", source="MONDO:Redundant", source="NCIT:C27342"} ! gastritis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach

[Term]
id: MONDO:0002844
name: lymphocytic gastritis
synonym: "lymphocytic gastritis" EXACT [NCIT:C27051]
xref: DOID:4035 {source="MONDO:equivalentTo"}
xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27051 {source="DOID:4035", source="MONDO:equivalentTo"}
xref: SCTID:235658000 {source="DOID:4035"}
xref: SCTID:360375007 {source="DOID:4035", source="MONDO:equivalentTo"}
xref: UMLS:C1283271 {source="MEDGEN:266188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004966 {source="DOID:4035", source="NCIT:C27051"} ! gastritis

[Term]
id: MONDO:0002845
name: necrotizing gastritis
def: "A variant of phlegmonous gastritis, typically progressing to gastric gangrene." [NCIT:P378]
synonym: "necrotizing gastritis" EXACT [NCIT:C27329]
xref: DOID:4037 {source="MONDO:equivalentTo"}
xref: MEDGEN:209092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27329 {source="DOID:4037", source="MONDO:equivalentTo"}
xref: UMLS:C0877152 {source="MEDGEN:209092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004966 {source="DOID:4037", source="NCIT:C27329"} ! gastritis

[Term]
id: MONDO:0002846
name: granulomatous gastritis
def: "Gastritis that is associated with the presence of granulomas." [NCIT:C27348]
synonym: "granulomatous gastritis" EXACT [NCIT:C27348]
xref: DOID:4038 {source="MONDO:equivalentTo"}
xref: ICD10CM:K29.6 {source="DOID:4038"}
xref: MEDGEN:207272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27348 {source="DOID:4038", source="MONDO:equivalentTo"}
xref: UMLS:C1112577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:207272"}
is_a: MONDO:0004966 {source="DOID:4038", source="NCIT:C27348"} ! gastritis

[Term]
id: MONDO:0002847
name: skeletal muscle cancer
def: "A malignant neoplasm arising from skeletal muscle." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of skeletal muscle tissue" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of skeletal muscle" EXACT [NCIT:C6516]
synonym: "malignant neoplasm of skeletal muscle tissue" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the skeletal muscle" EXACT [NCIT:C6516]
synonym: "malignant skeletal muscle neoplasm" EXACT [NCIT:C6516]
synonym: "malignant skeletal muscle tissue neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant skeletal muscle tumor" EXACT [NCIT:C6516]
synonym: "malignant skeletal muscle tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of skeletal muscle" EXACT [DOID:4043, NCIT:C6516]
synonym: "malignant tumor of the skeletal muscle" EXACT [NCIT:C6516]
synonym: "malignant tumour of skeletal muscle" EXACT OMO:0003005 []
synonym: "malignant tumour of the skeletal muscle" EXACT OMO:0003005 []
synonym: "skeletal muscle tissue cancer" EXACT [MONDO:patterns/location]
xref: DOID:4043 {source="MONDO:equivalentTo"}
xref: MEDGEN:233669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6516 {source="MONDO:equivalentTo", source="DOID:4043"}
xref: UMLS:C1334619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233669"}
is_a: MONDO:0002848 {source="MONDO:Redundant", source="NCIT:C6516"} ! skeletal muscle neoplasm
is_a: MONDO:0005864 {source="DOID:4043", source="MONDO:Redundant", source="NCIT:C6516"} ! muscle cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001134 ! skeletal muscle tissue
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0002848
name: skeletal muscle neoplasm
def: "A benign or malignant mesenchymal neoplasm arising from skeletal muscle." [NCIT:C6514]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neoplasm of skeletal muscle" EXACT [NCIT:C6514]
synonym: "neoplasm of skeletal muscle tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the skeletal muscle" EXACT [NCIT:C6514]
synonym: "skeletal muscle neoplasm" EXACT [NCIT:C6514]
synonym: "skeletal muscle tissue neoplasm" EXACT []
synonym: "skeletal muscle tissue neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "skeletal muscle tissue tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "skeletal muscle tissue tumour" EXACT OMO:0003005 []
synonym: "skeletal muscle tumor" EXACT [NCIT:C6514]
synonym: "skeletal muscle tumour" EXACT OMO:0003005 []
synonym: "tumor of skeletal muscle" EXACT [DOID:4044, NCIT:C6514]
synonym: "tumor of skeletal muscle tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the skeletal muscle" EXACT [NCIT:C6514]
synonym: "tumour of skeletal muscle" EXACT OMO:0003005 []
synonym: "tumour of skeletal muscle tissue" EXACT OMO:0003005 []
synonym: "tumour of the skeletal muscle" EXACT OMO:0003005 []
xref: DOID:4044 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:236817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6514 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4044"}
xref: SCTID:699955004 {source="MONDO:equivalentTo", source="DOID:4044"}
xref: UMLS:C1335971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236817"}
is_a: MONDO:0020120 {source="MONDO:Redundant"} ! skeletal muscle disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001134 ! skeletal muscle tissue

[Term]
id: MONDO:0002849
name: liver rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver." [NCIT:C5834]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hepatic rhabdomyosarcoma" EXACT [NCIT:C5834]
synonym: "liver rhabdomyosarcoma" EXACT [NCIT:C5834]
synonym: "liver rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of liver" EXACT []
synonym: "rhabdomyosarcoma of liver" EXACT [DOID:4047, NCIT:C5834]
synonym: "rhabdomyosarcoma of the liver" EXACT [NCIT:C5834]
xref: DOID:4047 {source="MONDO:equivalentTo"}
xref: MEDGEN:232598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5834 {source="DOID:4047", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232598"}
is_a: MONDO:0002397 {source="DOID:4047", source="MONDO:Redundant", source="NCIT:C5834"} ! liver sarcoma
is_a: MONDO:0005212 {source="DOID:4047", source="MONDO:Redundant", source="NCIT:C5834"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0002850
name: central nervous system rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system." [NCIT:C5464]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system rhabdomyosarcoma" EXACT [NCIT:C5464]
synonym: "central nervous system rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "CNS rhabdomyosarcoma" EXACT [NCIT:C5464]
synonym: "rhabdomyosarcoma (disease) of central nervous system" EXACT []
synonym: "rhabdomyosarcoma of central nervous system" EXACT [NCIT:C5464]
synonym: "rhabdomyosarcoma of CNS" EXACT [NCIT:C5464]
synonym: "rhabdomyosarcoma of the central nervous system" EXACT [NCIT:C5464]
synonym: "rhabdomyosarcoma of the CNS" EXACT [DOID:4048, NCIT:C5464]
xref: DOID:4048 {source="MONDO:equivalentTo"}
xref: MEDGEN:232043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5464 {source="DOID:4048", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332891 {source="MEDGEN:232043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002217 {source="DOID:4048", source="MONDO:Redundant", source="NCIT:C5464"} ! central nervous system sarcoma
is_a: MONDO:0005212 {source="DOID:4048", source="MONDO:Redundant", source="NCIT:C5464"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0002851
name: mediastinum rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinal rhabdomyosarcoma" EXACT [NCIT:C6617]
synonym: "mediastinum rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of mediastinum" EXACT []
synonym: "rhabdomyosarcoma of mediastinum" EXACT [DOID:4049, NCIT:C6617]
synonym: "rhabdomyosarcoma of the mediastinum" EXACT [NCIT:C6617]
xref: DOID:4049 {source="MONDO:equivalentTo"}
xref: MEDGEN:233686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6617 {source="DOID:4049", source="MONDO:equivalentTo"}
xref: UMLS:C1334677 {source="MEDGEN:233686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002852 {source="DOID:4049", source="MONDO:Redundant", source="NCIT:C6617"} ! mediastinum sarcoma
is_a: MONDO:0005212 {source="DOID:4049", source="MONDO:Redundant", source="NCIT:C6617"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0002852
name: mediastinum sarcoma
def: "A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinal sarcoma" EXACT [NCIT:C6606]
synonym: "mediastinum sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of mediastinum" EXACT [DOID:4050, MONDO:patterns/sarcoma, NCIT:C6606]
synonym: "sarcoma of the mediastinum" EXACT [NCIT:C6606]
xref: DOID:4050 {source="MONDO:equivalentTo"}
xref: MEDGEN:233687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6606 {source="MONDO:equivalentTo", source="DOID:4050"}
xref: UMLS:C1334678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233687"}
is_a: MONDO:0005089 {source="DOID:4050", source="MONDO:Redundant", source="NCIT:C6606/inferred"} ! sarcoma
is_a: MONDO:0005843 {source="DOID:4050", source="MONDO:Entailed", source="NCIT:C6606/inferred"} ! mediastinal cancer
is_a: MONDO:0018078 {source="NCIT:C6606"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0002853
name: rectum rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "rectal rhabdomyosarcoma" EXACT [NCIT:C5627]
synonym: "rectum rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of rectum" EXACT []
synonym: "rhabdomyosarcoma of rectum" EXACT [DOID:4053, NCIT:C5627]
synonym: "rhabdomyosarcoma of the rectum" EXACT [NCIT:C5627]
xref: DOID:4053 {source="MONDO:equivalentTo"}
xref: MEDGEN:235532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5627 {source="MONDO:equivalentTo", source="DOID:4053"}
xref: UMLS:C1335687 {source="MEDGEN:235532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002168 {source="DOID:4053", source="MONDO:Redundant", source="NCIT:C5627"} ! rectum sarcoma
is_a: MONDO:0005212 {source="DOID:4053", source="MONDO:Redundant", source="NCIT:C5627"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0002854
name: prostate sarcoma
def: "A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma." [NCIT:C7731]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "prostate gland sarcoma" EXACT [MONDO:patterns/location]
synonym: "prostate sarcoma" EXACT [NCIT:C7731]
synonym: "sarcoma of prostate" EXACT [NCIT:C7731]
synonym: "sarcoma of prostate gland" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of the prostate" EXACT [DOID:4054, NCIT:C7731]
xref: DOID:4054 {source="MONDO:equivalentTo"}
xref: MEDGEN:116060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7731 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4054"}
xref: UMLS:C0238393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116060"}
is_a: MONDO:0005089 {source="DOID:4054", source="MONDO:Redundant", source="NCIT:C7731/inferred"} ! sarcoma
is_a: MONDO:0008315 {source="DOID:4054", source="MONDO:Redundant", source="NCIT:C7731"} ! prostate cancer
is_a: MONDO:0018078 {source="NCIT:C7731"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0002855
name: ectomesenchymoma
def: "An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component." [NCIT:C4716]
subset: otar {source="MONDO:OTAR"}
synonym: "ectomesenchymoma" EXACT [NCIT:C4716]
synonym: "malignant ectomesenchymoma" EXACT [NCIT:C4716]
synonym: "rhabdomyosarcoma with ganglionic differentiation" EXACT [DOID:4055]
synonym: "rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)" EXACT [DOID:4055]
synonym: "sarcoma with ganglionic or neuroectodermal differentiation" EXACT [NCIT:C4716]
xref: DOID:4055 {source="MONDO:equivalentTo"}
xref: ICDO:8921/3 {source="NCIT:C4716"}
xref: MEDGEN:98123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4716 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4055"}
xref: SCTID:128750008 {source="DOID:4055"}
xref: UMLS:C0431111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98123"}
is_a: MONDO:0005089 {source="NCIT:C4716/inferred"} ! sarcoma
relationship: disease_has_location UBERON:0001016 ! nervous system
relationship: excluded_subClassOf MONDO:0003244 {source="DOID:4055", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system mesenchymal non-meningothelial tumor

[Term]
id: MONDO:0002856
name: gallbladder rhabdomyosarcoma
def: "A rhabdomyosarcoma that is located in the gallbladder." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "gall bladder rhabdomyosarcoma" EXACT []
synonym: "gall bladder rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "gallbladder rhabdomyosarcoma" EXACT [NCIT:C5839]
synonym: "rhabdomyosarcoma (disease) of gall bladder" EXACT []
synonym: "rhabdomyosarcoma of gallbladder" EXACT [NCIT:C5839]
synonym: "rhabdomyosarcoma of the gallbladder" EXACT [DOID:4057, NCIT:C5839]
xref: DOID:4057 {source="MONDO:equivalentTo"}
xref: MEDGEN:234294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5839 {source="DOID:4057", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234294"}
is_a: MONDO:0002857 {source="DOID:4057", source="MONDO:Redundant", source="NCIT:C5839"} ! gallbladder sarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0002857
name: gallbladder sarcoma
def: "A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." [NCIT:C5736]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gall bladder sarcoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder sarcoma" EXACT [NCIT:C5736]
synonym: "malignant mesenchymal tumor of gallbladder" EXACT [DOID:4058, NCIT:C5736]
synonym: "malignant mesenchymal tumour of gallbladder" EXACT OMO:0003005 []
synonym: "sarcoma of gall bladder" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of gallbladder" EXACT [NCIT:C5736]
synonym: "sarcoma of the gallbladder" EXACT [NCIT:C5736]
xref: DOID:4058 {source="MONDO:equivalentTo"}
xref: MEDGEN:232227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5736 {source="DOID:4058", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232227"}
is_a: MONDO:0005089 {source="DOID:4058", source="MONDO:Redundant", source="NCIT:C5736/inferred"} ! sarcoma
is_a: MONDO:0005411 {source="DOID:4058", source="MONDO:Redundant", source="NCIT:C5736"} ! gallbladder cancer
is_a: MONDO:0018078 {source="MONDO:Redundant", source="NCIT:C5736"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0002858
name: ovary rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ovarian rhabdomyosarcoma" EXACT [NCIT:C5236]
synonym: "ovary rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of ovary" EXACT []
synonym: "rhabdomyosarcoma of ovary" EXACT [DOID:4059, NCIT:C5236]
synonym: "rhabdomyosarcoma of the ovary" EXACT [NCIT:C5236]
xref: DOID:4059 {source="MONDO:equivalentTo"}
xref: MEDGEN:233277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5236 {source="DOID:4059", source="MONDO:equivalentTo"}
xref: UMLS:C1335176 {source="MEDGEN:233277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002225 {source="DOID:4059", source="MONDO:Redundant", source="NCIT:C5236"} ! ovarian sarcoma
is_a: MONDO:0005212 {source="DOID:4059", source="MONDO:Redundant", source="NCIT:C5236"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0002859
name: breast rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast." [NCIT:C5190]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast rhabdomyosarcoma" EXACT [NCIT:C5190]
synonym: "breast rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of breast" EXACT []
synonym: "rhabdomyosarcoma of breast" EXACT [NCIT:C5190]
synonym: "rhabdomyosarcoma of the breast" EXACT [DOID:4060, NCIT:C5190]
xref: DOID:4060 {source="MONDO:equivalentTo"}
xref: MEDGEN:231970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5190 {source="MONDO:equivalentTo", source="DOID:4060", source="MONDO:exact-label-match"}
xref: UMLS:C1332637 {source="MEDGEN:231970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002490 {source="DOID:4060", source="MONDO:Redundant", source="NCIT:C5190"} ! breast sarcoma
is_a: MONDO:0005212 {source="DOID:4060", source="MONDO:Redundant", source="NCIT:C5190"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002860
name: testis rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "rhabdomyosarcoma (disease) of testis" EXACT []
synonym: "rhabdomyosarcoma of testis" EXACT [DOID:4061, NCIT:C6378]
synonym: "rhabdomyosarcoma of the testis" EXACT [NCIT:C6378]
synonym: "testicular rhabdomyosarcoma" EXACT [NCIT:C6378]
synonym: "testis rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4061 {source="MONDO:equivalentTo"}
xref: MEDGEN:234942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6378 {source="MONDO:equivalentTo", source="DOID:4061"}
xref: UMLS:C1336726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234942"}
is_a: MONDO:0002861 {source="DOID:4061", source="MONDO:Redundant", source="NCIT:C6378"} ! testis sarcoma
is_a: MONDO:0005212 {source="DOID:4061", source="MONDO:Redundant", source="NCIT:C6378"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0002861
name: testis sarcoma
def: "A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas." [NCIT:C6359]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sarcoma of testis" EXACT [DOID:4062, MONDO:patterns/sarcoma, NCIT:C6359]
synonym: "sarcoma of the testis" EXACT [NCIT:C6359]
synonym: "testicular sarcoma" EXACT [NCIT:C6359]
synonym: "testis sarcoma" EXACT [MONDO:patterns/location]
xref: DOID:4062 {source="MONDO:equivalentTo"}
xref: MEDGEN:234943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6359 {source="MONDO:equivalentTo", source="DOID:4062"}
xref: UMLS:C1336727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234943"}
is_a: MONDO:0005089 {source="DOID:4062", source="MONDO:Entailed", source="NCIT:C6359/inferred"} ! sarcoma
is_a: MONDO:0005447 {source="DOID:4062", source="MONDO:Redundant", source="NCIT:C6359"} ! testicular cancer
is_a: MONDO:0018078 {source="NCIT:C6359"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0002862
name: bile duct sarcoma
def: "A sarcoma that involves the bile duct." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of bile duct" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of the bile duct" EXACT [DOID:4064]
xref: DOID:4064 {source="MONDO:equivalentTo"}
xref: NCIT:C5029 {source="MONDO:relatedTo", source="DOID:4064"}
is_a: MONDO:0003059 {source="DOID:4064", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct cancer
is_a: MONDO:0005089 {source="DOID:4064", source="MONDO:Redundant", source="MONDO:indirect"} ! sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0002863
name: rhabdomyosarcoma with mixed embryonal and alveolar features
def: "A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma." [NCIT:C4259]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mixed alveolar rhabdomyosarcoma" EXACT [NCIT:C4259]
synonym: "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" EXACT [DOID:4065]
synonym: "mixed type alveolar rhabdomyosarcoma" EXACT [NCIT:C4259]
synonym: "mixed type rhabdomyosarcoma" EXACT [DOID:4065, NCIT:C4259]
synonym: "rhabdomyosarcoma with mixed embryonal and alveolar features" EXACT [NCIT:C4259]
xref: DOID:4065 {source="MONDO:equivalentTo"}
xref: ICDO:8902/3 {source="NCIT:C4259"}
xref: MEDGEN:313444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4259 {source="MONDO:equivalentTo"}
xref: SCTID:62383007 {source="DOID:4065"}
xref: UMLS:C1709053 {source="MEDGEN:313444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005212 {source="DOID:4065", source="NCIT:C4259"} ! rhabdomyosarcoma

[Term]
id: MONDO:0002864
name: anus rhabdomyosarcoma
def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal rhabdomyosarcoma" EXACT [NCIT:C5610]
synonym: "anus rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of anus" EXACT []
synonym: "rhabdomyosarcoma of anus" EXACT [DOID:4066, NCIT:C5610]
synonym: "rhabdomyosarcoma of the anus" EXACT [NCIT:C5610]
xref: DOID:4066 {source="MONDO:equivalentTo"}
xref: MEDGEN:231065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5610 {source="MONDO:equivalentTo", source="DOID:4066"}
xref: UMLS:C1332276 {source="MEDGEN:231065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002865 {source="DOID:4066", source="MONDO:Redundant", source="NCIT:C5610"} ! anus sarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0002865
name: anus sarcoma
def: "A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal sarcoma" EXACT [NCIT:C5611]
synonym: "anus sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of anus" EXACT [DOID:4067, MONDO:patterns/sarcoma, NCIT:C5611]
synonym: "sarcoma of the anus" EXACT [NCIT:C5611]
xref: DOID:4067 {source="MONDO:equivalentTo"}
xref: MEDGEN:233982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5611 {source="DOID:4067", source="MONDO:equivalentTo"}
xref: UMLS:C1332277 {source="MONDO:equivalentTo", source="MEDGEN:233982", source="MONDO:MEDGEN"}
is_a: MONDO:0001879 {source="DOID:4067", source="MONDO:Redundant", source="NCIT:C5611"} ! anus cancer
is_a: MONDO:0018078 {source="NCIT:C5611"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0002866
name: duodenal disorder
def: "Pathological conditions in the duodenum region of the small intestine (intestine, small)." [MESH:D004378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of duodenum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of duodenum" EXACT []
synonym: "disorder of duodenum" EXACT [MONDO:patterns/location_top]
synonym: "duodenum disease" EXACT [MONDO:patterns/location]
synonym: "duodenum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "duodenum disorder" EXACT [DOID:4072]
xref: DOID:4072 {source="MONDO:equivalentTo"}
xref: ICD10CM:K20-K31 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:537.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:537.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004378 {source="MONDO:equivalentTo", source="DOID:4072"}
xref: SCTID:196598004 {source="DOID:4072"}
xref: SCTID:52182008 {source="MONDO:equivalentTo", source="DOID:4072"}
xref: UMLS:C0013289 {source="MEDGEN:8502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:4072", source="MESH:D004378", source="MONDO:Entailed"} ! intestinal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0002867
name: pancreatic cystadenocarcinoma
def: "A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes." [NCIT:C3874]
synonym: "cystadenocarcinoma - pancreas" EXACT [NCIT:C3874]
synonym: "cystadenocarcinoma of pancreas" EXACT [NCIT:C3874]
synonym: "cystadenocarcinoma of the pancreas" EXACT [NCIT:C3874]
synonym: "pancreas cystadenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic cystadenocarcinoma" EXACT [NCIT:C3874]
xref: DOID:4073 {source="MONDO:equivalentTo"}
xref: MEDGEN:66767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3874 {source="MONDO:equivalentTo", source="DOID:4073"}
xref: SCTID:235966007 {source="MONDO:equivalentTo", source="DOID:4073"}
xref: UMLS:C0238337 {source="MEDGEN:66767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005596 {source="MONDO:Redundant", source="NCIT:C3874"} ! cystadenocarcinoma
is_a: MONDO:0006047 {source="DOID:4073", source="MONDO:Redundant", source="NCIT:C3874"} ! pancreatic adenocarcinoma
intersection_of: MONDO:0005596 ! cystadenocarcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0002868
name: bile duct mucinous cystic neoplasm with an associated invasive carcinoma
def: "A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component." [NCIT:C4130]
comment: Editor note: adenocarcinoma and adenoma are disjoint in MONDO, we represent carcinoma as a distinct component
synonym: "bile duct cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4130]
synonym: "bile duct cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:4075]
synonym: "bile duct mucinous cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C4130]
synonym: "biliary cystadenocarcinoma" BROAD [DOID:4075, NCIT:C4130]
synonym: "cystadenocarcinoma of bile duct" EXACT [NCIT:C4130]
synonym: "cystadenocarcinoma of the bile duct" EXACT [NCIT:C4130]
xref: DOID:4075 {source="MONDO:equivalentTo"}
xref: ICDO:8161/3 {source="NCIT:C4130"}
xref: MEDGEN:137737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4130 {source="MONDO:equivalentTo", source="DOID:4075"}
xref: SCTID:50422007 {source="DOID:4075"}
xref: UMLS:C0334286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137737"}
is_a: MONDO:0003420 {source="NCIT:C4130"} ! bile duct cystadenoma
relationship: disease_has_feature MONDO:0003193 {source="NCIT:C4130-modified"} ! bile duct adenocarcinoma
relationship: disease_has_location UBERON:0002394 {source="NCIT:C4130"} ! bile duct
relationship: excluded_subClassOf MONDO:0003193 {source="DOID:4075", source="NCIT:C4130", source="https://orcid.org/0000-0001-5208-3432"} ! bile duct adenocarcinoma
relationship: excluded_subClassOf MONDO:0005596 {source="DOID:4075", source="https://orcid.org/0000-0001-5208-3432"} ! cystadenocarcinoma

[Term]
id: MONDO:0002869
name: heart valve disorder
def: "A disease involving the cardial valve." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cardial valve disease" EXACT [MONDO:patterns/location]
synonym: "cardial valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of cardial valve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cardial valve" EXACT []
synonym: "disorder of cardial valve" EXACT [MONDO:patterns/location_top]
synonym: "disorder of heart valve" EXACT [NCIT:C45525]
synonym: "heart valve disorder" EXACT [NCIT:C45525]
synonym: "valvular heart disease" EXACT [DOID:4079]
synonym: "valvular heart disorder" EXACT [NCIT:C45525]
xref: DOID:4079 {source="MONDO:equivalentTo"}
xref: EFO:0009551 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:424.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006349 {source="DOID:4079", source="MONDO:equivalentTo"}
xref: MESH:D016127 {source="DOID:4079"}
xref: NANDO:2100105 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C45525 {source="DOID:4079", source="MONDO:equivalentTo"}
xref: SCTID:195013005 {source="DOID:4079"}
xref: SCTID:368009 {source="DOID:4079", source="MONDO:equivalentTo"}
xref: SCTID:398995000 {source="DOID:4079"}
xref: UMLS:C0018824 {source="MEDGEN:5463", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="DOID:4079", source="MESH:D006349", source="MONDO:Redundant", source="NCIT:C45525/inferred"} ! heart disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000946 ! cardiac valve

[Term]
id: MONDO:0002870
name: tricuspid valve insufficiency
def: "The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve." [NCIT:P378]
synonym: "insufficiency, tricuspid" EXACT [NCIT:C50842]
synonym: "tricuspid incompetence" EXACT [DOID:4080]
synonym: "tricuspid insufficiency" EXACT [NCIT:C50842]
synonym: "tricuspid regurgitation" EXACT [DOID:4080]
synonym: "tricuspid valve regurgitation" EXACT [DOID:4080]
xref: DOID:4080 {source="MONDO:equivalentTo"}
xref: MEDGEN:11911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014262 {source="DOID:4080", source="MONDO:equivalentTo"}
xref: NANDO:2200301 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50842 {source="DOID:4080", source="MONDO:equivalentTo"}
xref: NCIT:C50843 {source="DOID:4080"}
xref: SCTID:111287006 {source="DOID:4080", source="MONDO:equivalentTo"}
xref: SCTID:155347006 {source="DOID:4080"}
xref: SCTID:251009000 {source="DOID:4080"}
xref: SCTID:266298007 {source="DOID:4080"}
xref: UMLS:C0040961 {source="MEDGEN:11911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000471 {source="DOID:4080", source="NCIT:C50842"} ! tricuspid valve disorder
intersection_of: MONDO:0020674 ! vascular insufficiency disorder
intersection_of: disease_has_location UBERON:0002134 ! tricuspid valve

[Term]
id: MONDO:0002871
name: testicular trophoblastic tumor
def: "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas." [NCIT:C39934]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular trophoblastic tumor" EXACT [NCIT:C39934]
xref: DOID:4084 {source="MONDO:equivalentTo"}
xref: MEDGEN:272844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39934 {source="MONDO:equivalentTo", source="DOID:4084", source="MONDO:exact-label-match"}
xref: UMLS:C1515301 {source="MEDGEN:272844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002872 {source="DOID:4084", source="MONDO:Redundant", source="NCIT:C39934"} ! trophoblastic neoplasm
is_a: MONDO:0002874 {source="NCIT:C39934"} ! testicular pure germ cell tumor
is_a: MONDO:0006447 {source="NCIT:C39934"} ! testicular non-seminomatous germ cell tumor
intersection_of: MONDO:0002872 ! trophoblastic neoplasm
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0002872
name: trophoblastic neoplasm
def: "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma." [NCIT:C3422]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of trophoblast" EXACT [MONDO:patterns/neoplasm]
synonym: "trophoblast neoplasm" EXACT []
synonym: "trophoblast neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "trophoblast tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "trophoblast tumour" EXACT OMO:0003005 []
synonym: "trophoblastic neoplasm" EXACT [NCIT:C3422]
synonym: "trophoblastic neoplasm (morphologic abnormality)" EXACT [DOID:4085]
synonym: "trophoblastic neoplasm NOS (morphologic abnormality)" EXACT [DOID:4085]
synonym: "trophoblastic neoplasms" EXACT [NCIT:C3422]
synonym: "trophoblastic tumor" EXACT [DOID:4085, NCIT:C3422]
synonym: "trophoblastic tumor (qualifier value)" EXACT [DOID:4085]
synonym: "trophoblastic tumour" EXACT OMO:0003005 []
synonym: "trophoblastic tumour (qualifier value)" EXACT OMO:0003005 []
synonym: "tumor of trophoblast" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of trophoblast" EXACT OMO:0003005 []
xref: DOID:4085 {source="MONDO:equivalentTo"}
xref: MEDGEN:21708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014328 {source="MONDO:equivalentTo", source="DOID:4085"}
xref: NCIT:C3422 {source="MONDO:equivalentTo"}
xref: SCTID:115234004 {source="DOID:4085"}
xref: SCTID:134334000 {source="DOID:4085"}
xref: SCTID:189855009 {source="DOID:4085"}
xref: SCTID:189858006 {source="DOID:4085"}
xref: UMLS:C0041182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21708"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000088 ! trophoblast
relationship: excluded_subClassOf MONDO:0002510 {source="DOID:4085", source="MESH:D014328", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete germ cell and embryonal cancer

[Term]
id: MONDO:0002873
name: obsolete testicular germ cell tumor non-seminomatous
is_obsolete: true
replaced_by: MONDO:0006447

[Term]
id: MONDO:0002874
name: testicular pure germ cell tumor
def: "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor." [NCIT:C39915]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular Pure germ cell tumor" EXACT [NCIT:C39915]
synonym: "testicular Pure germ cell tumour" EXACT OMO:0003005 []
xref: DOID:4087 {source="MONDO:equivalentTo"}
xref: MEDGEN:308089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39915 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4087"}
xref: UMLS:C1514608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308089"}
is_a: MONDO:0010108 {source="DOID:4087", source="NCIT:C39915"} ! testicular germ cell tumor

[Term]
id: MONDO:0002875
name: parasitic ectoparasitic infectious disease
def: "Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods." [MESH:D004478]
synonym: "ectoparasitic infestation" RELATED [MESH:D004478]
synonym: "ectoparasitism" EXACT [DOID:4110]
synonym: "infestation, ectoparasitic" RELATED [MESH:D004478]
synonym: "Infestations, ectoparasitic" RELATED [MESH:D004478]
xref: DOID:4110 {source="MONDO:equivalentTo"}
xref: ICD10CM:B85-B89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:3964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004478 {source="MONDO:equivalentTo", source="DOID:4110"}
xref: UMLS:C0013578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3964"}
is_a: MONDO:0005135 {source="DOID:4110", source="MESH:D004478/inferred"} ! parasitic infectious disease
is_a: MONDO:0024610 {source="MESH:D004478"} ! parasitic skin disorder

[Term]
id: MONDO:0002876
name: cervical adenosarcoma
def: "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." [NCIT:C40229]
subset: gard_rare {source="GARD:20492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213792"}
subset: orphanet_rare {source="Orphanet:213792"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosarcoma of the cervix uteri" EXACT [MONDO:0016279]
synonym: "adenosarcoma of uterine cervix" EXACT [MONDO:design_pattern]
synonym: "cervical adenosarcoma" EXACT [NCIT:C40229, Orphanet:213792]
synonym: "cervical Muellerian adenosarcoma" EXACT [DOID:4111]
synonym: "cervical Mullerian adenosarcoma" EXACT [DOID:4111, NCIT:C40229]
synonym: "cervical Müllerian adenosarcoma" EXACT [NCIT:C40229]
synonym: "uterine cervix adenosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:4111 {source="MONDO:equivalentTo"}
xref: GARD:20492 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213792/btnt", source="Orphanet:213792"}
xref: ICD10CM:C53.1 {source="Orphanet:213792/btnt", source="Orphanet:213792"}
xref: ICD10CM:C53.8 {source="Orphanet:213792/btnt", source="Orphanet:213792"}
xref: MEDGEN:308948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40229 {source="DOID:4111", source="MONDO:equivalentTo"}
xref: Orphanet:213792 {source="MONDO:equivalentTo"}
xref: SCTID:764847000 {source="MONDO:equivalentTo"}
xref: UMLS:C1516426 {source="MEDGEN:308948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005636 {source="MONDO:Redundant", source="NCIT:C40229"} ! adenosarcoma
is_a: MONDO:0016277 {source="Orphanet:213792"} ! malignant mixed epithelial and mesenchymal tumor of cervix uteri
intersection_of: MONDO:0005636 ! adenosarcoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: excluded_subClassOf MONDO:0002877 {source="DOID:4111", source="https://orcid.org/0000-0001-5208-3432"} ! cervical carcinosarcoma

[Term]
id: MONDO:0002877
name: cervical carcinosarcoma
def: "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma." [NCIT:P378]
subset: gard_rare {source="GARD:20491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213787"}
subset: orphanet_rare {source="Orphanet:213787"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinosarcoma of the cervix uteri" EXACT [MONDO:0016278]
synonym: "cervical carcinosarcoma" EXACT [NCIT:C36097, Orphanet:213787]
synonym: "cervical malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C36097]
synonym: "cervical malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 []
synonym: "cervical malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C36097]
synonym: "cervical malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 []
synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT [DOID:4112]
synonym: "cervical malignant mixed mesodermal mullerian tumour" EXACT OMO:0003005 []
synonym: "cervical malignant mixed Mullerian tumor" EXACT [DOID:4112]
synonym: "cervical malignant mixed Mullerian tumour" EXACT OMO:0003005 []
synonym: "cervical malignant Mullerian mixed tumor" EXACT [Orphanet:213787]
synonym: "cervical malignant Mullerian mixed tumour" EXACT OMO:0003005 []
synonym: "cervical malignant Müllerian mixed tumor" EXACT [Orphanet:213787]
synonym: "cervical malignant Müllerian mixed tumour" EXACT OMO:0003005 []
synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT [DOID:4112]
synonym: "malignant Mullerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787]
synonym: "malignant Mullerian mixed tumour of the cervix uteri" EXACT OMO:0003005 []
synonym: "malignant Müllerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787]
synonym: "malignant Müllerian mixed tumour of the cervix uteri" EXACT OMO:0003005 []
synonym: "uterine cervix carcinosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:4112 {source="MONDO:equivalentTo"}
xref: GARD:20491 {source="MONDO:GARD"}
xref: ICD10CM:C53 {source="Orphanet:213787/ntbt", source="Orphanet:213787"}
xref: MEDGEN:232338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36097 {source="DOID:4112", source="MONDO:equivalentTo"}
xref: NCIT:C40226 {source="DOID:4112"}
xref: NCIT:C40228 {source="DOID:4112"}
xref: Orphanet:213787 {source="MONDO:equivalentTo"}
xref: SCTID:764951002 {source="MONDO:equivalentTo"}
xref: UMLS:C1332917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232338"}
is_a: MONDO:0002974 {source="DOID:4112", source="MONDO:Redundant", source="NCIT:C36097/inferred"} ! cervical cancer
is_a: MONDO:0006485 {source="MONDO:Redundant", source="NCIT:C36097"} ! uterine carcinosarcoma
is_a: MONDO:0016277 {source="Orphanet:213787"} ! malignant mixed epithelial and mesenchymal tumor of cervix uteri
intersection_of: MONDO:0002928 ! carcinosarcoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0002878
name: uterine corpus adenosarcoma
def: "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection." [NCIT:C6336]
subset: gard_rare {source="GARD:20473", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213600"}
subset: orphanet_rare {source="Orphanet:213600"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosarcoma of body of uterus" EXACT [NCIT:C6336]
synonym: "adenosarcoma of the body of uterus" EXACT [NCIT:C6336]
synonym: "adenosarcoma of the corpus uteri" EXACT [MONDO:0016257]
synonym: "adenosarcoma of the uterine body" EXACT [NCIT:C6336]
synonym: "adenosarcoma of the uterine corpus" EXACT [NCIT:C6336]
synonym: "adenosarcoma of the uterus" RELATED [GARD:0009636]
synonym: "adenosarcoma of uterine body" EXACT [NCIT:C6336]
synonym: "adenosarcoma of uterine corpus" EXACT [DOID:4113, NCIT:C6336]
synonym: "body of uterus adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C6336]
synonym: "Mullerian adenosarcoma of the uterus" RELATED [MESH:C538232]
synonym: "uterine adenosarcoma" RELATED [MESH:C538232]
synonym: "uterine body adenosarcoma" EXACT [NCIT:C6336]
synonym: "uterine corpus adenosarcoma" EXACT [NCIT:C6336]
synonym: "uterine corpus Mullerian adenosarcoma" EXACT [NCIT:C6336]
synonym: "uterine corpus mullerian adenosarcoma" EXACT [DOID:4113, NCIT:C6336]
synonym: "uterine corpus Müllerian adenosarcoma" EXACT [NCIT:C6336]
xref: DOID:4113 {source="MONDO:equivalentTo"}
xref: GARD:20473 {source="MONDO:GARD"}
xref: ICD10CM:C54.2 {source="Orphanet:213600/ntbt", source="Orphanet:213600"}
xref: MEDGEN:237042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538232 {source="MONDO:equivalentTo"}
xref: NCIT:C6336 {source="DOID:4113", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:UAS {source="MONDO:equivalentTo"}
xref: Orphanet:213600 {source="MONDO:equivalentTo"}
xref: UMLS:C1336917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237042"}
is_a: MONDO:0002715 {source="DOID:4113/inferred", source="MESH:C538232", source="MONDO:Redundant", source="NCIT:C6336/inferred"} ! uterine cancer
is_a: MONDO:0002879 {source="DOID:4113", source="MONDO:Redundant", source="NCIT:C6336"} ! uterine body mixed cancer
is_a: MONDO:0005636 {source="DOID:4113", source="MESH:C538232", source="MONDO:Redundant", source="NCIT:C6336"} ! adenosarcoma
is_a: MONDO:0016255 {source="Orphanet:213600"} ! uterine corpus mixed epithelial and mesenchymal neoplasm
intersection_of: MONDO:0005636 ! adenosarcoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus" xsd:anyURI {source="GARD:0009636"}

[Term]
id: MONDO:0002879
name: uterine body mixed cancer
def: "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant body of uterus mixed neoplasm" EXACT [NCIT:C6311]
synonym: "malignant body of uterus mixed tumor" EXACT [NCIT:C6311]
synonym: "malignant body of uterus mixed tumour" EXACT OMO:0003005 []
synonym: "malignant corpus uteri mixed neoplasm" EXACT [NCIT:C6311]
synonym: "malignant corpus uteri mixed tumor" EXACT [NCIT:C6311]
synonym: "malignant corpus uteri mixed tumour" EXACT OMO:0003005 []
synonym: "malignant mixed neoplasm of body of uterus" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of corpus uteri" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of the body of uterus" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of the corpus uteri" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of the uterine body" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of the uterine corpus" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of uterine body" EXACT [NCIT:C6311]
synonym: "malignant mixed neoplasm of uterine corpus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of body of uterus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of corpus uteri" EXACT [DOID:4114, NCIT:C6311]
synonym: "malignant mixed tumor of the body of uterus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of the corpus uteri" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of the uterine body" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of the uterine corpus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of uterine body" EXACT [NCIT:C6311]
synonym: "malignant mixed tumor of uterine corpus" EXACT [NCIT:C6311]
synonym: "malignant mixed tumour of body of uterus" EXACT OMO:0003005 []
synonym: "malignant mixed tumour of corpus uteri" EXACT OMO:0003005 []
synonym: "malignant mixed tumour of the body of uterus" EXACT OMO:0003005 []
synonym: "malignant mixed tumour of the corpus uteri" EXACT OMO:0003005 []
synonym: "malignant mixed tumour of the uterine body" EXACT OMO:0003005 []
synonym: "malignant mixed tumour of the uterine corpus" EXACT OMO:0003005 []
synonym: "malignant mixed tumour of uterine body" EXACT OMO:0003005 []
synonym: "malignant mixed tumour of uterine corpus" EXACT OMO:0003005 []
synonym: "malignant uterine body mixed neoplasm" EXACT [NCIT:C6311]
synonym: "malignant uterine body mixed tumor" EXACT [NCIT:C6311]
synonym: "malignant uterine body mixed tumour" EXACT OMO:0003005 []
synonym: "malignant uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C6311]
synonym: "malignant uterine corpus mixed tumor" EXACT [NCIT:C6311]
synonym: "malignant uterine corpus mixed tumour" EXACT OMO:0003005 []
xref: DOID:4114 {source="MONDO:equivalentTo"}
xref: MEDGEN:233163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6311 {source="DOID:4114", source="MONDO:equivalentTo"}
xref: UMLS:C1334628 {source="MEDGEN:233163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005853 {source="MONDO:Redundant", source="NCIT:C6311"} ! malignant mixed neoplasm
is_a: MONDO:0006003 {source="DOID:4114", source="MONDO:Entailed", source="MONDO:Redundant"} ! uterine corpus cancer
is_a: MONDO:0016255 {source="MONDO:Redundant", source="NCIT:C6311"} ! uterine corpus mixed epithelial and mesenchymal neoplasm
intersection_of: MONDO:0005853 ! malignant mixed neoplasm
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0002880
name: ovarian adenosarcoma
def: "A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases." [NCIT:C7317]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosarcoma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian adenosarcoma" EXACT [NCIT:C7317]
synonym: "ovarian mesodermal adenosarcoma" EXACT [NCIT:C7317]
synonym: "ovarian Mullerian adenosarcoma" EXACT [NCIT:C7317]
synonym: "ovarian mullerian adenosarcoma" EXACT [DOID:4115, NCIT:C7317]
synonym: "ovarian Müllerian adenosarcoma" EXACT [NCIT:C7317]
synonym: "ovary adenosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:4115 {source="MONDO:equivalentTo"}
xref: MEDGEN:277458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7317 {source="DOID:4115", source="MONDO:equivalentTo"}
xref: UMLS:C1335169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277458"}
is_a: MONDO:0005636 {source="MONDO:Redundant", source="NCIT:C7317"} ! adenosarcoma
is_a: MONDO:0008170 {source="DOID:4115/inferred", source="MONDO:Redundant", source="NCIT:C7317", source="NCIT:C7317/inferred"} ! ovarian cancer
intersection_of: MONDO:0005636 ! adenosarcoma
intersection_of: disease_has_location UBERON:0000992 ! ovary
relationship: excluded_subClassOf MONDO:0003792 {source="DOID:4115", source="https://orcid.org/0000-0001-5208-3432"} ! ovarian carcinosarcoma

[Term]
id: MONDO:0002881
name: vaginal adenosarcoma
def: "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component." [NCIT:C40277]
synonym: "adenosarcoma of vagina" EXACT [MONDO:design_pattern]
synonym: "vagina adenosarcoma" EXACT [MONDO:patterns/location]
synonym: "vaginal adenosarcoma" EXACT [NCIT:C40277]
synonym: "vaginal Mullerian adenosarcoma" EXACT [NCIT:C40277]
synonym: "vaginal Müllerian adenosarcoma" EXACT [NCIT:C40277]
xref: DOID:4117 {source="MONDO:equivalentTo"}
xref: MEDGEN:274378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40277 {source="MONDO:equivalentTo", source="DOID:4117"}
xref: UMLS:C1519914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274378"}
is_a: MONDO:0005636 {source="MONDO:Redundant", source="NCIT:C40277"} ! adenosarcoma
intersection_of: MONDO:0005636 ! adenosarcoma
intersection_of: disease_has_location UBERON:0000996 ! vagina
relationship: excluded_subClassOf MONDO:0006488 {source="DOID:4117", source="https://orcid.org/0000-0001-5208-3432"} ! vaginal carcinosarcoma

[Term]
id: MONDO:0002882
name: colon neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5697]
subset: gard_rare {source="GARD:19755", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100080"}
subset: orphanet_rare {source="Orphanet:100080"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colon NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "colon neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5697]
synonym: "colon neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "colon neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "colon neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "colonic neuroendocrine neoplasm" EXACT [NCIT:C5697]
synonym: "colonic neuroendocrine tumor" EXACT [DOID:4118, NCIT:C5697]
synonym: "colonic neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5697]
synonym: "neuroendocrine neoplasm of the colon" EXACT [NCIT:C5697]
synonym: "neuroendocrine tumor of the colon" RELATED [Orphanet:100080]
synonym: "neuroendocrine tumour of the colon" RELATED OMO:0003005 []
xref: DOID:4118 {source="MONDO:equivalentTo"}
xref: GARD:19755 {source="MONDO:GARD"}
xref: MEDGEN:234162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5697 {source="DOID:4118", source="MONDO:equivalentTo"}
xref: Orphanet:100080 {source="MONDO:equivalentTo"}
xref: UMLS:C1333097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234162"}
is_a: MONDO:0002883 {source="DOID:4118", source="MONDO:Redundant", source="NCIT:C5697/inferred"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C5697"} ! colonic neoplasm
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100080", source="Orphanet:100080/inferred"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0002883
name: intestinal neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5695]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intestinal neuroendocrine benign tumor" RELATED [DOID:4119]
synonym: "intestinal neuroendocrine benign tumour" RELATED OMO:0003005 []
synonym: "intestinal neuroendocrine neoplasm" EXACT [NCIT:C5695]
synonym: "intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "intestine neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "intestine neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "intestine neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5695]
synonym: "neuroendocrine neoplasm of the intestine" EXACT [NCIT:C5695]
synonym: "neuroendocrine tumor of intestine" EXACT [DOID:4119]
synonym: "neuroendocrine tumour of intestine" EXACT OMO:0003005 []
xref: DOID:4119 {source="MONDO:equivalentTo"}
xref: MEDGEN:233567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5695 {source="MONDO:equivalentTo", source="DOID:4119"}
xref: UMLS:C1334231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233567"}
is_a: MONDO:0021118 {source="DOID:4119", source="MONDO:Redundant", source="NCIT:C5695"} ! intestinal neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0002884
name: nail disorder
def: "A disease involving the nail." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of nail" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nail" EXACT []
synonym: "disorder of nail" EXACT [MONDO:patterns/location_top]
synonym: "nail disease" EXACT [MONDO:patterns/location]
synonym: "nail disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:4123 {source="MONDO:equivalentTo"}
xref: ICD10CM:L60 {source="DOID:4123"}
xref: ICD10CM:L60.9 {source="DOID:4123"}
xref: ICD9:703 {source="DOID:4123"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:703.9 {source="DOID:4123", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009260 {source="DOID:4123", source="MONDO:equivalentTo"}
xref: SCTID:156401005 {source="DOID:4123"}
xref: SCTID:17790008 {source="DOID:4123", source="MONDO:equivalentTo"}
xref: SCTID:201127007 {source="DOID:4123"}
xref: SCTID:267861009 {source="DOID:4123"}
xref: UMLS:C0027339 {source="MEDGEN:10171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="DOID:4123", source="MONDO:Redundant"} ! integumentary system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001705 ! nail

[Term]
id: MONDO:0002885
name: erythrasma
def: "A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum." [MESH:D004894]
synonym: "infection due to Corynebacterium minutissimum" EXACT [DOID:4131]
xref: DOID:4131 {source="MONDO:equivalentTo"}
xref: ICD10CM:L08.1 {source="MONDO:equivalentTo", source="DOID:4131"}
xref: ICD9:041.85 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004894 {source="MONDO:equivalentTo", source="DOID:4131"}
xref: SCTID:111797001 {source="DOID:4131"}
xref: SCTID:154314007 {source="DOID:4131"}
xref: SCTID:186393009 {source="DOID:4131"}
xref: SCTID:200726000 {source="DOID:4131"}
xref: SCTID:238418005 {source="DOID:4131"}
xref: SCTID:264207005 {source="MONDO:equivalentTo"}
xref: SCTID:266185008 {source="DOID:4131"}
xref: UMLS:C0014752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4529"}
is_a: MONDO:0002922 {source="DOID:4131"} ! pyoderma

[Term]
id: MONDO:0002886
name: common bile duct disorder
def: "A disease involving the common bile duct." [https://orcid.org/0000-0002-6601-2165]
synonym: "common bile duct disease" EXACT [MONDO:patterns/location]
synonym: "common bile duct disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of common bile duct" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of common bile duct" EXACT []
synonym: "disorder of common bile duct" EXACT [MONDO:patterns/location_top]
xref: DOID:4137 {source="MONDO:equivalentTo"}
xref: MEDGEN:3545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003137 {source="DOID:4137", source="MONDO:equivalentTo"}
xref: UMLS:C0009440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3545"}
is_a: MONDO:0002887 {source="DOID:4137", source="MESH:D003137", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001174 ! common bile duct

[Term]
id: MONDO:0002887
name: bile duct disorder
def: "A disease involving the bile duct." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "bile duct disease" EXACT [MONDO:patterns/location]
synonym: "bile duct disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "bile duct disorder" EXACT [NCIT:C96716]
synonym: "disease of bile duct" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bile duct" EXACT []
synonym: "disorder of bile duct" EXACT [MONDO:patterns/location_top]
xref: DOID:4138 {source="MONDO:equivalentTo"}
xref: MEDGEN:2240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001649 {source="DOID:4138", source="MONDO:equivalentTo"}
xref: NCIT:C96716 {source="DOID:4138", source="MONDO:equivalentTo"}
xref: SCTID:118926004 {source="DOID:4138", source="MONDO:equivalentTo"}
xref: SCTID:197455006 {source="DOID:4138"}
xref: UMLS:C0005395 {source="MEDGEN:2240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004868 {source="DOID:4138", source="MESH:D001649", source="MONDO:Redundant"} ! biliary tract disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0002888
name: intraorbital meningioma
def: "A meningioma that affects the intraorbital structures." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intraorbital meningioma" EXACT [NCIT:C6778]
xref: DOID:4141 {source="MONDO:equivalentTo"}
xref: MEDGEN:272773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:4141"}
xref: NCIT:C6778 {source="MONDO:equivalentTo", source="DOID:4141"}
xref: UMLS:C1334261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272773"}
is_a: MONDO:0016642 {source="NCIT:C6778/inferred"} ! meningioma
is_a: MONDO:0024611 {source="NCIT:C6778"} ! orbit neoplasm
relationship: disease_has_location UBERON:0004088 ! orbital region
relationship: excluded_subClassOf MONDO:0002889 {source="DOID:4141", source="https://orcid.org/0000-0001-5208-3432"} ! orbital cancer

[Term]
id: MONDO:0002889
name: orbital cancer
def: "A primary or metastatic malignant neoplasm involving the orbit." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of orbit of skull" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of orbit" EXACT [DOID:4143, ICD9CM:190.1]
synonym: "malignant neoplasm of orbit of skull" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the orbit" EXACT [NCIT:C3562]
synonym: "malignant orbit neoplasm" EXACT [NCIT:C3562]
synonym: "malignant orbit of skull neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant orbit tumor" EXACT [NCIT:C3562]
synonym: "malignant orbit tumour" EXACT OMO:0003005 []
synonym: "malignant orbital neoplasm" EXACT [NCIT:C3562]
synonym: "malignant orbital tumor" EXACT [NCIT:C3562]
synonym: "malignant orbital tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of orbit" EXACT [NCIT:C3562]
synonym: "malignant tumor of the orbit" EXACT [NCIT:C3562]
synonym: "malignant tumour of orbit" EXACT OMO:0003005 []
synonym: "malignant tumour of the orbit" EXACT OMO:0003005 []
synonym: "neoplasm of orbit proper" BROAD [DOID:4143]
synonym: "orbit cancer" EXACT [DOID:4143]
synonym: "orbit of skull cancer" EXACT [MONDO:patterns/location]
synonym: "orbital tumor" BROAD [DOID:4143, NCIT:C3290]
synonym: "orbital tumour" BROAD OMO:0003005 []
xref: DOID:4143 {source="MONDO:equivalentTo"}
xref: EFO:0007408 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C69.6 {source="DOID:4143"}
xref: ICD9:190.1 {source="DOID:4143"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009918 {source="DOID:4143"}
xref: NCIT:C3290 {source="MONDO:relatedTo", source="DOID:4143"}
xref: NCIT:C3562 {source="MONDO:equivalentTo", source="DOID:4143"}
xref: SCTID:127003006 {source="MONDO:equivalentTo", source="DOID:4143"}
xref: SCTID:188270008 {source="DOID:4143"}
xref: SCTID:363462005 {source="DOID:4143"}
xref: SCTID:93932000 {source="DOID:4143"}
xref: UMLS:C0153626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56314"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001697 ! orbit of skull
relationship: disease_has_feature HP:0000520 ! Proptosis

[Term]
id: MONDO:0002890
name: obsolete gastrointestinal adenoma
is_obsolete: true
replaced_by: MONDO:0006180

[Term]
id: MONDO:0002891
name: obsolete gastrointestinal neuroendocrine benign tumor
comment: Obsoleted as the semantics of the corresponding DOID class were not clear. The label says benign but it is mapped to status-neutral neoplasm in NCIT
xref: DOID:4148 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0002892
name: skull base chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.." [NCIT:C5453]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chordoma of skull base" EXACT [NCIT:C5453]
synonym: "chordoma of the skull base" EXACT [DOID:4151, NCIT:C5453]
synonym: "skull base chordoma" EXACT [NCIT:C5453]
xref: DOID:4151 {source="MONDO:equivalentTo"}
xref: MEDGEN:233448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5453 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4151"}
xref: UMLS:C1335975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233448"}
is_a: MONDO:0002785 {source="MONDO:Redundant", source="NCIT:C5453"} ! skull base neoplasm
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C5453"} ! head and neck cancer
is_a: MONDO:0008978 {source="DOID:4151", source="NCIT:C5453"} ! chordoma
relationship: disease_has_feature HP:0010762 ! Chordoma

[Term]
id: MONDO:0002893
name: obsolete chondroid chordoma
is_obsolete: true
replaced_by: MONDO:0006145

[Term]
id: MONDO:0002894
name: spinal chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chordoma of spinal column" EXACT [NCIT:C5156]
synonym: "chordoma of spine" EXACT [DOID:4153, NCIT:C5156]
synonym: "chordoma of the spinal column" EXACT [NCIT:C5156]
synonym: "spinal chordoma" EXACT [NCIT:C5156]
synonym: "spinal Chordomas" EXACT [NCIT:C5156]
synonym: "spinal column chordoma" EXACT [NCIT:C5156]
xref: DOID:4153 {source="MONDO:equivalentTo"}
xref: EFO:1000543 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:347800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5156 {source="MONDO:equivalentTo", source="EFO:1000543", source="DOID:4153"}
xref: UMLS:C1859101 {source="MEDGEN:347800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005564 {source="EFO:1000543", source="NCIT:C5156/inferred"} ! embryonal neoplasm
is_a: MONDO:0008978 {source="DOID:4153", source="NCIT:C5156"} ! chordoma

[Term]
id: MONDO:0002895
name: obsolete dentinogenesis imperfecta
is_obsolete: true
replaced_by: MONDO:0018849

[Term]
id: MONDO:0002896
name: primary syphilis
def: "The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks." [NCIT:C128412]
synonym: "early symptomatic syphilis" EXACT [DOID:4156]
synonym: "early syphilis, symptomatic" EXACT [DOID:4156, ICD9CM:091]
synonym: "symptomatic early syphilis" EXACT [DOID:4156]
xref: DOID:4156 {source="MONDO:equivalentTo"}
xref: ICD9:091 {source="DOID:4156"}
xref: MEDGEN:419772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536772 {source="MONDO:equivalentTo"}
xref: NCIT:C128412 {source="MONDO:equivalentTo"}
xref: SCTID:186846005 {source="DOID:4156", source="MONDO:equivalentTo"}
xref: SCTID:57334003 {source="DOID:4156"}
xref: UMLS:C2931317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419772"}
is_a: MONDO:0005976 {source="DOID:4156", source="MESH:C536772", source="NCIT:C128412"} ! syphilis

[Term]
id: MONDO:0002897
name: secondary syphilis
def: "The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage." [NCIT:C128413]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "secondary syphilis of viscera or bone" EXACT [DOID:4157]
xref: DOID:4157 {source="MONDO:equivalentTo"}
xref: ICD9:091.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:091.9 {source="DOID:4157", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536773 {source="DOID:4157", source="MONDO:equivalentTo"}
xref: NCIT:C128413 {source="MONDO:equivalentTo"}
xref: SCTID:154382002 {source="DOID:4157"}
xref: SCTID:186865002 {source="DOID:4157"}
xref: SCTID:240557004 {source="DOID:4157", source="MONDO:equivalentTo"}
xref: UMLS:C0149985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101776"}
is_a: MONDO:0005976 {source="DOID:4157", source="MESH:C536773", source="NCIT:C128413"} ! syphilis

[Term]
id: MONDO:0002898
name: skin cancer
def: "A malignant neoplasm involving the zone of skin" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "CA - skin cancer" EXACT [DOID:4159]
synonym: "cancer of skin" RELATED [DOID:4159]
synonym: "cancer of zone of skin" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of skin" EXACT [DOID:4159, MTH:NOCODE, NCIT:C2920]
synonym: "malignant neoplasm of the skin" EXACT [NCIT:C2920]
synonym: "malignant neoplasm of zone of skin" EXACT [MONDO:patterns/cancer]
synonym: "malignant skin neoplasm" EXACT [NCIT:C2920]
synonym: "malignant skin tumor" EXACT [NCIT:C2920]
synonym: "malignant skin tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of skin" EXACT [NCIT:C2920]
synonym: "malignant tumor of the skin" EXACT [NCIT:C2920]
synonym: "malignant tumour of skin" EXACT OMO:0003005 []
synonym: "malignant tumour of the skin" EXACT OMO:0003005 []
synonym: "malignant zone of skin neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "melanoma and non-melanoma skin cancer" EXACT [DOID:4159, NCIT:C2920]
synonym: "skin cancer" EXACT [NCIT:C2920]
synonym: "skin cancer, Including melanoma" EXACT [NCIT:C2920]
synonym: "skin cancer, NOS" RELATED EXCLUDE [NCIT:C2920]
synonym: "skin neoplasm, malignant" EXACT [NCIT:C2920]
synonym: "zone of skin cancer" EXACT [MONDO:patterns/location]
xref: DOID:4159 {source="MONDO:equivalentTo"}
xref: ICD10CM:C43-C44 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:173.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:173.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:40101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012878 {source="DOID:4159"}
xref: NCIT:C2920 {source="DOID:4159", source="MONDO:equivalentTo"}
xref: SCTID:188143008 {source="DOID:4159"}
xref: SCTID:190107001 {source="DOID:4159"}
xref: SCTID:363511009 {source="DOID:4159"}
xref: SCTID:372130007 {source="DOID:4159", source="MONDO:equivalentTo"}
xref: SCTID:94047004 {source="DOID:4159"}
xref: UMLS:C0007114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40101"}
is_a: MONDO:0000653 {source="DOID:4159", source="MONDO:Entailed", source="MONDO:Redundant"} ! integumentary system cancer
is_a: MONDO:0002531 {source="MONDO:Redundant", source="NCIT:C2920"} ! skin neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0002899
name: differentiating neuroblastoma
def: "A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells." [NCIT:C42048]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "differentiating neuroblastoma" EXACT [NCIT:C42048]
xref: DOID:4160 {source="MONDO:equivalentTo"}
xref: MEDGEN:268734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42048 {source="MONDO:equivalentTo", source="DOID:4160", source="MONDO:exact-label-match"}
xref: UMLS:C1511934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:268734"}
is_a: MONDO:0005072 {source="DOID:4160", source="NCIT:C42048"} ! neuroblastoma

[Term]
id: MONDO:0002900
name: cerebral neuroblastoma
def: "A neuroblastoma arising from the cerebral hemispheres." [NCIT:C4826]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system neuroblastoma" EXACT [NCIT:C4826]
synonym: "cerebral hemispheric neuroblastoma" EXACT [NCIT:C4826]
synonym: "cerebral neuroblastoma" EXACT [NCIT:C4826]
synonym: "cerebral neuroblastoma, PNET" EXACT [NCIT:C4826]
synonym: "neuroblastoma of brain" EXACT [DOID:4164]
synonym: "neuroblastoma of cerebral hemispheres" EXACT [NCIT:C4826]
synonym: "neuroblastoma of cerebrum" EXACT [DOID:4164, NCIT:C4826]
synonym: "neuroblastoma of telencephalon" EXACT [MONDO:design_pattern]
synonym: "neuroblastoma of the cerebral hemisphere" EXACT [DOID:4164]
synonym: "neuroblastoma of the cerebral hemispheres" EXACT [NCIT:C4826]
synonym: "neuroblastoma of the cerebrum" EXACT [NCIT:C4826]
synonym: "telencephalon neuroblastoma" EXACT [MONDO:patterns/location]
xref: DOID:0080905 {source="MONDO:equivalentTo"}
xref: DOID:4164 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MEDGEN:107851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4826 {source="MONDO:equivalentTo", source="DOID:4164"}
xref: SCTID:281560004 {source="MONDO:equivalentTo", source="DOID:4164"}
xref: UMLS:C0559458 {source="MEDGEN:107851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002731 {source="DOID:4164", source="NCIT:C4826"} ! cerebral hemisphere cancer
is_a: MONDO:0005072 {source="DOID:4164", source="MONDO:Redundant", source="NCIT:C4826"} ! neuroblastoma
intersection_of: MONDO:0005072 ! neuroblastoma
intersection_of: disease_has_location UBERON:0001893 ! telencephalon

[Term]
id: MONDO:0002901
name: blood group incompatibility
comment: May be obsoleted as it represents a finding
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: CSP:0440-3703 {source="DOID:4176"}
xref: DOID:4176 {source="MONDO:equivalentTo"}
xref: MEDGEN:609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001787 {source="DOID:4176"}
xref: UMLS:C0005806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609"}
is_a: MONDO:0005570 {source="DOID:4176"} ! hematologic disorder

[Term]
id: MONDO:0002902
name: obsolete pseudohypoparathyroidism
is_obsolete: true
replaced_by: MONDO:0019992

[Term]
id: MONDO:0002903
name: articulation disorder
def: "A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants)." [NCIT:C92564]
synonym: "articulation impairment" EXACT [DOID:4186]
synonym: "phonological disorder" EXACT [DOID:4186]
xref: DOID:4186 {source="MONDO:equivalentTo"}
xref: ICD9:315.39
xref: MEDGEN:2081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001184 {source="MONDO:equivalentTo", source="DOID:4186"}
xref: NCIT:C92564 {source="MONDO:equivalentTo"}
xref: SCTID:386701004 {source="MONDO:equivalentTo", source="DOID:4186"}
xref: SCTID:8187005 {source="DOID:4186"}
xref: UMLS:C0003910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2081"}
is_a: MONDO:0004730 {source="DOID:4186", source="MESH:D001184"} ! speech disorder
is_a: MONDO:0004750 {source="MESH:D001184/inferred", source="NCIT:C92564"} ! language disorder

[Term]
id: MONDO:0002904
name: echolalia
def: "A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song." [NCIT:P378]
synonym: "echolalia" EXACT [MONDO:ambiguous]
synonym: "echolalia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:4188 {source="MONDO:equivalentTo"}
xref: HP:0010529 {source="MONDO:otherHierarchy"}
xref: MEDGEN:8532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004454 {source="DOID:4188", source="MONDO:equivalentTo"}
xref: NCIT:C97166 {source="DOID:4188", source="MONDO:otherHierarchy"}
xref: SCTID:64712007 {source="DOID:4188"}
xref: UMLS:C0013528 {source="MEDGEN:8532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004730 {source="DOID:4188", source="MESH:D004454"} ! speech disorder
property_value: IAO:0000589 "echolalia (disease)" xsd:string

[Term]
id: MONDO:0002905
name: mutism
def: "The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis." [MESH:D009155, PMID:7959517]
synonym: "mutism" EXACT [MONDO:ambiguous]
synonym: "mutism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:4189 {source="MONDO:equivalentTo"}
xref: HP:0002300 {source="MONDO:otherHierarchy"}
xref: MEDGEN:6476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009155 {source="DOID:4189", source="MONDO:equivalentTo"}
xref: SCTID:267771000 {source="DOID:4189"}
xref: SCTID:88052002 {source="DOID:4189"}
xref: UMLS:C0026884 {source="MEDGEN:6476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004730 {source="DOID:4189", source="MESH:D009155"} ! speech disorder
property_value: IAO:0000589 "mutism (disease)" xsd:string

[Term]
id: MONDO:0002906
name: obsolete scleroderma
is_obsolete: true
replaced_by: MONDO:0019340

[Term]
id: MONDO:0002907
name: intracranial thrombosis
def: "Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis." [MESH:D020767]
subset: otar {source="MONDO:OTAR"}
synonym: "cerebral thrombosis" EXACT [DOID:4193]
xref: DOID:4193 {source="MONDO:equivalentTo"}
xref: ICD9:434.0 {source="DOID:4193"}
xref: ICD9:434.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:199820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020767 {source="MONDO:equivalentTo", source="DOID:4193"}
xref: SCTID:155401002 {source="DOID:4193"}
xref: SCTID:71444005 {source="MONDO:equivalentTo"}
xref: UMLS:C0752143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199820"}
is_a: MONDO:0000831 {source="DOID:4193"} ! thrombotic disease
is_a: MONDO:0011057 {source="DOID:4193", source="MESH:D020767/inferred"} ! cerebrovascular disorder

[Term]
id: MONDO:0002908
name: glucose metabolism disease
def: "A metabolic disorder characterized by abnormal blood glucose levels." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of glucose metabolism" EXACT [NCIT:C53655]
synonym: "glucose metabolism disorder" EXACT [NCIT:C53655]
xref: DOID:4194 {source="MONDO:equivalentTo"}
xref: EFO:0009406 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E15-E16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D044882 {source="MONDO:equivalentTo", source="DOID:4194"}
xref: NCIT:C53655 {source="MONDO:equivalentTo", source="DOID:4194"}
xref: SCTID:126877002 {source="MONDO:equivalentTo", source="DOID:4194"}
xref: UMLS:C1257958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226229"}
is_a: MONDO:0005066 {source="DOID:4194/inferred", source="MESH:D044882", source="MONDO:Redundant", source="NCIT:C53655/inferred"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_disrupts GO:0006006 ! glucose metabolic process

[Term]
id: MONDO:0002909
name: hyperglycemia
def: "Abnormally high level of glucose in the blood." [NCIT:P378]
xref: DOID:4195 {source="MONDO:equivalentTo"}
xref: ICD10CM:R73.9 {source="DOID:4195"}
xref: ICD9:790.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006943 {source="MONDO:equivalentTo", source="DOID:4195"}
xref: NCIT:C26797 {source="MONDO:otherHierarchy", source="DOID:4195"}
xref: SCTID:144187006 {source="DOID:4195"}
xref: SCTID:154719004 {source="DOID:4195"}
xref: SCTID:207289007 {source="DOID:4195"}
xref: SCTID:207643008 {source="DOID:4195"}
xref: SCTID:237598005 {source="DOID:4195"}
xref: SCTID:270004003 {source="DOID:4195"}
xref: SCTID:315299009 {source="DOID:4195"}
xref: SCTID:390730002 {source="DOID:4195"}
xref: SCTID:80394007 {source="MONDO:equivalentTo", source="DOID:4195"}
xref: UMLS:C0020456 {source="MEDGEN:5689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002908 {source="DOID:4195", source="MESH:D006943", source="MONDO:Redundant"} ! glucose metabolism disease
intersection_of: MONDO:0002908 ! glucose metabolism disease
intersection_of: disease_has_feature HP:0003074 ! Hyperglycemia

[Term]
id: MONDO:0002910
name: peroneal neuropathy
def: "Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" [MESH:D020427]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroneal neuropathy" EXACT [DOID:4201, NCIT:C27596]
xref: DOID:4201 {source="MONDO:equivalentTo"}
xref: MEDGEN:148182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020427 {source="DOID:4201", source="MONDO:equivalentTo"}
xref: NCIT:C27596 {source="DOID:4201", source="MONDO:equivalentTo"}
xref: UMLS:C0747533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148182"}
is_a: MONDO:0001397 {source="DOID:4201", source="MESH:D020427"} ! mononeuropathy
is_a: MONDO:0005244 {source="DOID:4201/inferred", source="MONDO:Redundant", source="NCIT:C27596"} ! peripheral neuropathy

[Term]
id: MONDO:0002911
name: brain stem glioma
def: "A neuroglial tumor that arises from the brain stem." [NCIT:C8501]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain stem glioma" EXACT [NCIT:C8501]
synonym: "brain stem neuroglial neoplasm" EXACT [NCIT:C8501]
synonym: "brain stem neuroglial tumor" EXACT [NCIT:C8501]
synonym: "brain stem neuroglial tumour" EXACT OMO:0003005 []
synonym: "brainstem glioma" EXACT [NCIT:C8501]
synonym: "brainstem malignant glioma" EXACT [MONDO:patterns/location]
synonym: "brainstem neuroglial neoplasm" EXACT [NCIT:C8501]
synonym: "brainstem neuroglial tumor" EXACT [DOID:4202, NCIT:C8501]
synonym: "brainstem neuroglial tumour" EXACT OMO:0003005 []
synonym: "diffuse brainstem glioma" EXACT [NCIT:C8501]
synonym: "glioma of brain stem" EXACT [NCIT:C8501]
synonym: "glioma of brainstem" EXACT [NCIT:C8501]
synonym: "glioma of the brain stem" EXACT [NCIT:C8501]
synonym: "glioma of the brainstem" EXACT [NCIT:C8501]
synonym: "malignant glioma of brainstem" EXACT [MONDO:design_pattern]
xref: DOID:4202 {source="MONDO:equivalentTo"}
xref: EFO:1000142 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:195650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8501 {source="DOID:4202", source="MONDO:equivalentTo"}
xref: SCTID:444545003 {source="DOID:4202", source="MONDO:equivalentTo"}
xref: UMLS:C0677865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195650"}
is_a: MONDO:0002912 {source="DOID:4202", source="MONDO:Entailed", source="MONDO:Redundant"} ! brainstem cancer
is_a: MONDO:0005499 {source="DOID:4202", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C8501"} ! glioma
intersection_of: MONDO:0100342 ! malignant glioma
intersection_of: disease_has_location UBERON:0002298 ! brainstem

[Term]
id: MONDO:0002912
name: brainstem cancer
def: "A primary or metastatic malignant neoplasm that affects the brain stem." [NCIT:C3570]
subset: otar {source="MONDO:OTAR"}
synonym: "brain stem cancer" RELATED [DOID:4203, GARD:0008244]
synonym: "brainstem cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of brainstem" EXACT [MONDO:patterns/cancer]
synonym: "malignant brain stem neoplasm" BROAD [NCIT:C3570]
synonym: "malignant brain stem tumor" BROAD [NCIT:C3570]
synonym: "malignant brain stem tumour" BROAD OMO:0003005 []
synonym: "malignant brainstem neoplasm" BROAD [MONDO:patterns/cancer, NCIT:C3570]
synonym: "malignant brainstem tumor" BROAD [NCIT:C3570]
synonym: "malignant brainstem tumour" BROAD OMO:0003005 []
synonym: "malignant neoplasm of brain stem" EXACT [DOID:4203, NCIT:C3570]
synonym: "malignant neoplasm of brainstem" EXACT [DOID:4203, MONDO:patterns/cancer, NCIT:C3570]
synonym: "malignant neoplasm of the brain stem" EXACT [NCIT:C3570]
synonym: "malignant neoplasm of the brainstem" EXACT [NCIT:C3570]
synonym: "malignant tumor of brain stem" EXACT [NCIT:C3570]
synonym: "malignant tumor of brainstem" EXACT [DOID:4203, NCIT:C3570]
synonym: "malignant tumor of the brain stem" EXACT [NCIT:C3570]
synonym: "malignant tumor of the brainstem" EXACT [NCIT:C3570]
synonym: "malignant tumour of brain stem" EXACT OMO:0003005 []
synonym: "malignant tumour of brainstem" EXACT OMO:0003005 []
synonym: "malignant tumour of the brain stem" EXACT OMO:0003005 []
synonym: "malignant tumour of the brainstem" EXACT OMO:0003005 []
synonym: "neoplasm of adult brain stem" BROAD [DOID:4203]
synonym: "neoplasm of brain stem" BROAD [DOID:4203]
synonym: "primary brain stem neoplasm" BROAD [DOID:4203]
synonym: "primary brain stem tumor" BROAD [DOID:4203]
synonym: "primary brain stem tumour" BROAD OMO:0003005 []
synonym: "tumor of adult brainstem" BROAD EXCLUDE [DOID:4203]
synonym: "tumor of the brainstem" BROAD [DOID:4203]
synonym: "tumour of adult brainstem" BROAD OMO:0003005 []
synonym: "tumour of the brainstem" BROAD OMO:0003005 []
xref: DOID:4203 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71.7 {source="DOID:4203"}
xref: ICD9:191.7 {source="DOID:4203", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020295 {source="DOID:4203", source="MONDO:equivalentTo"}
xref: NCIT:C3570 {source="DOID:4203", source="MONDO:equivalentTo"}
xref: NCIT:C4869 {source="DOID:4203"}
xref: NCIT:C4975 {source="DOID:4203"}
xref: NCIT:C5967 {source="DOID:4203", source="MONDO:directSiblingOf"}
xref: SCTID:126961004 {source="DOID:4203"}
xref: SCTID:154549004 {source="DOID:4203"}
xref: SCTID:188299003 {source="DOID:4203"}
xref: SCTID:363473003 {source="DOID:4203", source="MONDO:equivalentTo"}
xref: SCTID:93726004 {source="DOID:4203"}
xref: UMLS:C0153641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57566"}
is_a: MONDO:0003107 {source="DOID:4203", source="MESH:D020295", source="NCIT:C3570"} ! infratentorial cancer
is_a: MONDO:0021228 {source="MONDO:Redundant", source="NCIT:C3570"} ! brainstem neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002298 ! brainstem
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8244/brain-stem-cancer" xsd:anyURI {source="GARD:0008244"}

[Term]
id: MONDO:0002913
name: cerebellar neoplasm
def: "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003" [NCIT:C2935]
subset: otar {source="MONDO:OTAR"}
synonym: "cerebellar cancer" RELATED EXCLUDE [DOID:4205]
synonym: "cerebellar neoplasm" EXACT [NCIT:C2935]
synonym: "cerebellar tumor" EXACT [NCIT:C2935]
synonym: "cerebellar tumour" EXACT OMO:0003005 []
synonym: "cerebellum cancer" RELATED [DOID:4205]
synonym: "cerebellum neoplasm" EXACT []
synonym: "cerebellum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cerebellum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cerebellum tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of cerebellum" NARROW [DOID:4205, NCIT:C3569]
synonym: "malignant tumour of cerebellum" NARROW OMO:0003005 []
synonym: "neoplasm of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935]
synonym: "neoplasm of the cerebellum" EXACT [NCIT:C2935]
synonym: "tumor of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935]
synonym: "tumor of the cerebellum" EXACT [NCIT:C2935]
synonym: "tumour of cerebellum" EXACT OMO:0003005 []
synonym: "tumour of the cerebellum" EXACT OMO:0003005 []
xref: DOID:4205 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71.6 {source="DOID:4205"}
xref: ICD9:191.6 {source="DOID:4205"}
xref: MEDGEN:40187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002528 {source="MONDO:equivalentTo", source="DOID:4205"}
xref: NCIT:C2935 {source="MONDO:equivalentTo", source="DOID:4205"}
xref: NCIT:C3569 {source="DOID:4205"}
xref: SCTID:126960003 {source="MONDO:equivalentTo", source="DOID:4205"}
xref: SCTID:154548007 {source="DOID:4205"}
xref: SCTID:363472008 {source="DOID:4205"}
xref: SCTID:449420002 {source="DOID:4205"}
xref: UMLS:C0007762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40187"}
is_a: MONDO:0002427 {source="MESH:D002528", source="MONDO:Redundant"} ! cerebellar disorder
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C2935/inferred"} ! brain neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002037 ! cerebellum
relationship: disease_has_location UBERON:0002037 {source="NCIT:C2935"} ! cerebellum

[Term]
id: MONDO:0002914
name: childhood brain stem neoplasm
def: "A neoplasm that affects the brain stem and occurs during childhood." [NCIT:C5969]
subset: otar {source="MONDO:OTAR"}
synonym: "brain stem neoplasm" EXACT [NCIT:C5969]
synonym: "brainstem cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood brain stem neoplasm" EXACT [NCIT:C5969]
synonym: "childhood brain stem tumor" EXACT [NCIT:C5969]
synonym: "childhood brain stem tumour" EXACT OMO:0003005 []
synonym: "childhood brainstem cancer" EXACT [MONDO:design_pattern]
synonym: "childhood brainstem neoplasm" EXACT [NCIT:C5969]
synonym: "childhood brainstem tumor" EXACT [NCIT:C5969]
synonym: "childhood brainstem tumour" EXACT OMO:0003005 []
synonym: "childhood neoplasm of brain stem" EXACT [NCIT:C5969]
synonym: "childhood neoplasm of brainstem" EXACT [NCIT:C5969]
synonym: "childhood neoplasm of the brain stem" EXACT [NCIT:C5969]
synonym: "childhood neoplasm of the brainstem" EXACT [NCIT:C5969]
synonym: "childhood tumor of brain stem" EXACT [NCIT:C5969]
synonym: "childhood tumor of brainstem" EXACT [NCIT:C5969]
synonym: "childhood tumor of the brain stem" EXACT [NCIT:C5969]
synonym: "childhood tumor of the brainstem" EXACT [NCIT:C5969]
synonym: "childhood tumour of brain stem" EXACT OMO:0003005 []
synonym: "childhood tumour of brainstem" EXACT OMO:0003005 []
synonym: "childhood tumour of the brain stem" EXACT OMO:0003005 []
synonym: "childhood tumour of the brainstem" EXACT OMO:0003005 []
synonym: "paediatric brain stem neoplasm" EXACT OMO:0003005 []
synonym: "paediatric brain stem tumour" EXACT OMO:0003005 []
synonym: "paediatric brainstem cancer" EXACT OMO:0003005 []
synonym: "paediatric brainstem neoplasm" EXACT OMO:0003005 []
synonym: "paediatric brainstem tumour" EXACT OMO:0003005 []
synonym: "paediatric neoplasm of brain stem" EXACT OMO:0003005 []
synonym: "paediatric neoplasm of brainstem" EXACT OMO:0003005 []
synonym: "paediatric neoplasm of the brain stem" EXACT OMO:0003005 []
synonym: "paediatric neoplasm of the brainstem" EXACT OMO:0003005 []
synonym: "paediatric tumour of brain stem" EXACT OMO:0003005 []
synonym: "paediatric tumour of brainstem" EXACT OMO:0003005 []
synonym: "paediatric tumour of the brain stem" EXACT OMO:0003005 []
synonym: "paediatric tumour of the brainstem" EXACT OMO:0003005 []
synonym: "pediatric brain stem neoplasm" EXACT [NCIT:C5969]
synonym: "pediatric brain stem tumor" EXACT [NCIT:C5969]
synonym: "pediatric brainstem cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric brainstem neoplasm" EXACT [NCIT:C5969]
synonym: "pediatric brainstem tumor" EXACT [NCIT:C5969]
synonym: "pediatric neoplasm of brain stem" EXACT [NCIT:C5969]
synonym: "pediatric neoplasm of brainstem" EXACT [NCIT:C5969]
synonym: "pediatric neoplasm of the brain stem" EXACT [NCIT:C5969]
synonym: "pediatric neoplasm of the brainstem" EXACT [NCIT:C5969]
synonym: "pediatric tumor of brain stem" EXACT [NCIT:C5969]
synonym: "pediatric tumor of brainstem" EXACT [DOID:4206, NCIT:C5969]
synonym: "pediatric tumor of the brain stem" EXACT [NCIT:C5969]
synonym: "pediatric tumor of the brainstem" EXACT [NCIT:C5969]
xref: DOID:4206 {source="MONDO:equivalentTo"}
xref: MEDGEN:272459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5969 {source="DOID:4206", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332951 {source="MEDGEN:272459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002912 {source="DOID:4206", source="MONDO:Redundant"} ! brainstem cancer
is_a: MONDO:0002915 {source="NCIT:C5969"} ! childhood infratentorial neoplasm
intersection_of: MONDO:0002912 ! brainstem cancer
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0002915
name: childhood infratentorial neoplasm
def: "A neoplasm that affects the infratentorial region of the brain and occurs during childhood." [NCIT:C5802]
synonym: "childhood infratentorial neoplasm" EXACT [NCIT:C5802]
synonym: "childhood infratentorial neoplasms" EXACT [NCIT:C5802]
synonym: "childhood infratentorial tumor" EXACT [NCIT:C5802]
synonym: "childhood infratentorial tumors" EXACT [NCIT:C5802]
synonym: "childhood infratentorial tumour" EXACT OMO:0003005 []
synonym: "childhood infratentorial tumours" EXACT OMO:0003005 []
synonym: "infratentorial neoplasm of childhood" EXACT [MONDO:patterns/childhood]
synonym: "paediatric infratentorial neoplasm" EXACT OMO:0003005 []
synonym: "paediatric infratentorial tumour" EXACT OMO:0003005 []
synonym: "pediatric infratentorial neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C5802]
synonym: "pediatric infratentorial tumor" EXACT [DOID:4207, NCIT:C5802]
xref: DOID:4207 {source="MONDO:equivalentTo"}
xref: MEDGEN:232349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5802 {source="MONDO:equivalentTo", source="DOID:4207", source="MONDO:exact-label-match"}
xref: UMLS:C1332973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232349"}
intersection_of: MONDO:0037736 ! infratentorial neoplasm
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0002912 {source="DOID:4207", source="https://orcid.org/0000-0001-5208-3432"} ! brainstem cancer

[Term]
id: MONDO:0002916
name: brainstem intraparenchymal clear cell meningioma
def: "A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain stem intraparenchymal clear cell meningioma" EXACT [NCIT:C5295]
synonym: "intraparenchymal clear cell meningioma of brainstem" EXACT [NCIT:C5295]
synonym: "intraparenchymal clear cell meningioma of the brainstem" EXACT [DOID:4209, NCIT:C5295]
xref: DOID:4209 {source="MONDO:equivalentTo"}
xref: MEDGEN:231959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5295 {source="MONDO:equivalentTo", source="DOID:4209"}
xref: UMLS:C1332612 {source="MEDGEN:231959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002918 {source="DOID:4209", source="NCIT:C5295"} ! clear cell meningioma

[Term]
id: MONDO:0002917
name: disorder of pilosebaceous unit
def: "A disease that involves the pilosebaceous unit." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of pilosebaceous unit" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pilosebaceous unit" EXACT []
synonym: "disorder of pilosebaceous unit" EXACT [MONDO:patterns/location_top]
synonym: "hair and hair follicle diseases" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hair disease" NARROW [MESH:D006201]
synonym: "hair disorder" EXACT [NCIT:C34656]
synonym: "hair/hair follicle diseases" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pilosebaceous unit disease" EXACT [MONDO:patterns/location]
synonym: "pilosebaceous unit disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:421 {source="MONDO:equivalentTo"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:704.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:640417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006201 {source="MONDO:equivalentTo", source="DOID:421"}
xref: NCIT:C34656 {source="MONDO:equivalentTo", source="DOID:421"}
xref: SCTID:156407009 {source="DOID:421"}
xref: SCTID:201128002 {source="MONDO:equivalentTo"}
xref: SCTID:267862002 {source="DOID:421"}
xref: SCTID:279425004 {source="DOID:421"}
xref: UMLS:C0554472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:640417"}
is_a: MONDO:0002051 {source="DOID:421", source="MONDO:Redundant"} ! integumentary system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0011932 ! pilosebaceous unit

[Term]
id: MONDO:0002918
name: clear cell meningioma
def: "A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." [NCIT:C4722]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCM" RELATED ABBREVIATION [ONCOTREE:CCM]
synonym: "clear cell meningioma" EXACT [DOID:4210]
synonym: "clear cell meningioma (morphologic abnormality)" EXACT [DOID:4210]
xref: DOID:4210 {source="MONDO:equivalentTo"}
xref: ICDO:9538/1 {source="NCIT:C4722"}
xref: MEDGEN:98459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:4210"}
xref: NCIT:C4722 {source="DOID:4210", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:CCM {source="MONDO:equivalentTo"}
xref: SCTID:134213009 {source="DOID:4210"}
xref: SCTID:57606003 {source="DOID:4210"}
xref: UMLS:C0431121 {source="MEDGEN:98459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016642 {source="DOID:4210", source="EFO:1000180", source="NCIT:C4722/inferred"} ! meningioma

[Term]
id: MONDO:0002919
name: posterior cranial fossa meningioma
def: "A meningioma that affects the posterior cranial fossa." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of posterior cranial fossa" EXACT []
synonym: "meningioma of posterior cranial fossa" EXACT [NCIT:C6775]
synonym: "meningioma of the posterior cranial fossa" EXACT [DOID:4211, NCIT:C6775]
synonym: "posterior cranial fossa meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4211 {source="MONDO:equivalentTo"}
xref: MEDGEN:290609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6775 {source="DOID:4211", source="MONDO:equivalentTo"}
xref: UMLS:C1565950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:290609"}
is_a: MONDO:0016642 {source="DOID:4211", source="MONDO:Redundant", source="NCIT:C6775/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0008788 ! posterior cranial fossa

[Term]
id: MONDO:0002920
name: malignant ovarian Brenner tumor
def: "A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good." [NCIT:C4270]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant Brenner tumor of ovary" EXACT [NCIT:C4270]
synonym: "malignant Brenner tumor of the ovary" EXACT [NCIT:C4270]
synonym: "malignant Brenner tumour of ovary" EXACT OMO:0003005 []
synonym: "malignant Brenner tumour of the ovary" EXACT OMO:0003005 []
synonym: "malignant ovarian Brenner tumor" EXACT [NCIT:C4270]
synonym: "ovarian Brenner tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:4217 {source="MONDO:equivalentTo"}
xref: ICDO:9000/3 {source="NCIT:C4270"}
xref: MEDGEN:90793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001948 {source="DOID:4217"}
xref: NCIT:C4270 {source="DOID:4217", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:42194009 {source="DOID:4217"}
xref: UMLS:C0334495 {source="MEDGEN:90793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002370 {source="MONDO:Redundant", source="NCIT:C4270"} ! ovarian Brenner tumor
is_a: MONDO:0008170 {source="DOID:4217/inferred", source="MONDO:Entailed", source="NCIT:C4270/inferred"} ! ovarian cancer
intersection_of: MONDO:0002370 ! ovarian Brenner tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0002921
name: congenital structural myopathy
def: "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "centronuclear myopathy" RELATED [NCIT:C84648]
xref: DOID:422 {source="MONDO:equivalentTo"}
xref: MEDGEN:156050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020914 {source="MONDO:equivalentTo", source="DOID:422"}
xref: NANDO:1200482 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200867 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84648 {source="MONDO:equivalentTo", source="DOID:422"}
xref: UMLS:C0752282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:156050"}
is_a: MONDO:0005336 {source="DOID:422", source="NCIT:C84648"} ! myopathy
is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-0736-9199"} ! congenital myopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5656" xsd:anyURI

[Term]
id: MONDO:0002922
name: pyoderma
def: "Any skin disease that is pyegenic." [Wikipedia:Pyoderma]
xref: DOID:4223 {source="MONDO:equivalentTo"}
xref: ICD10CM:L08.0 {source="DOID:4223", source="MONDO:equivalentTo"}
xref: ICD9:686.0 {source="DOID:4223", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:686.00 {source="DOID:4223", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:686.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011711 {source="DOID:4223", source="MONDO:equivalentTo"}
xref: SCTID:156323008 {source="DOID:4223"}
xref: SCTID:200719000 {source="DOID:4223"}
xref: SCTID:267838007 {source="DOID:4223"}
xref: SCTID:70759006 {source="DOID:4223", source="MONDO:equivalentTo"}
xref: UMLS:C0034212 {source="MEDGEN:18783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:4223/inferred", source="MESH:D011711", source="MONDO:Redundant"} ! skin disorder
intersection_of: MONDO:0005093 ! skin disorder
intersection_of: disease_has_feature HP:0000999 ! Pyoderma
relationship: excluded_subClassOf MONDO:0002406 {source="DOID:4223", source="https://orcid.org/0000-0001-5208-3432"} ! dermatitis

[Term]
id: MONDO:0002923
name: uterine corpus endometrial stromal sarcoma
def: "A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma." [NCIT:C40219]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body of uterus endometrial stromal sarcoma" EXACT [MONDO:patterns/location]
synonym: "body of uterus endometrioid stromal sarcoma" EXACT [MONDO:patterns/location]
synonym: "endometrioid stromal sarcoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus endometrial stromal sarcoma" EXACT [NCIT:C40219]
synonym: "uterine corpus endometrial stromal tumor" EXACT [DOID:4227]
synonym: "uterine corpus endometrial stromal tumour" EXACT OMO:0003005 []
synonym: "uterine corpus ess" EXACT [NCIT:C40219]
xref: DOID:4227 {source="MONDO:equivalentTo"}
xref: MEDGEN:275553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40217 {source="DOID:4227"}
xref: NCIT:C40219 {source="MONDO:equivalentTo", source="DOID:4227", source="MONDO:exact-label-match"}
xref: UMLS:C1519849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275553"}
is_a: MONDO:0005210 {source="DOID:4227", source="MONDO:Redundant", source="NCIT:C40219"} ! uterine corpus sarcoma
is_a: MONDO:0006745 {source="DOID:4227", source="MONDO:Redundant", source="NCIT:C40219"} ! endometrioid stromal sarcoma
intersection_of: MONDO:0006745 ! endometrioid stromal sarcoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0002924
name: smooth muscle cancer
def: "A malignant neoplasm arising from smooth muscle." [NCIT:C6511]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of smooth muscle" EXACT [NCIT:C6511]
synonym: "cancer of the smooth muscle" EXACT [NCIT:C6511]
synonym: "malignant neoplasm of smooth muscle" EXACT [NCIT:C6511]
synonym: "malignant neoplasm of the smooth muscle" EXACT [NCIT:C6511]
synonym: "malignant smooth muscle neoplasm" EXACT [NCIT:C6511]
synonym: "malignant smooth muscle tumor" EXACT [NCIT:C6511]
synonym: "malignant smooth muscle tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of smooth muscle" EXACT [DOID:4230, NCIT:C6511]
synonym: "malignant tumor of the smooth muscle" EXACT [NCIT:C6511]
synonym: "malignant tumour of smooth muscle" EXACT OMO:0003005 []
synonym: "malignant tumour of the smooth muscle" EXACT OMO:0003005 []
synonym: "smooth muscle cancer" EXACT [NCIT:C6511]
xref: DOID:4230 {source="MONDO:equivalentTo"}
xref: MEDGEN:233670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6511 {source="MONDO:equivalentTo", source="DOID:4230"}
xref: UMLS:C1334620 {source="MEDGEN:233670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003939 {source="DOID:4230/inferred"} ! muscle tissue disorder
is_a: MONDO:0005864 {source="DOID:4230", source="MONDO:Redundant", source="NCIT:C6511"} ! muscle cancer
is_a: MONDO:0006975 {source="MONDO:Redundant", source="NCIT:C6511"} ! smooth muscle tumor
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_arises_from_structure CL:0000192 ! smooth muscle cell

[Term]
id: MONDO:0002925
name: obsolete extraosseous Ewing's sarcoma
is_obsolete: true
replaced_by: MONDO:0018270

[Term]
id: MONDO:0002926
name: clear cell sarcoma
def: "A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult soft part clear cell sarcoma" EXACT [DOID:4233]
synonym: "chordoid sarcoma" EXACT [NCIT:C3745]
synonym: "clear cell sarcoma (morphologic abnormality)" EXACT [DOID:4233]
synonym: "clear cell sarcoma - not kidney" EXACT [NCIT:C3745]
synonym: "clear cell sarcoma of soft parts" EXACT [DOID:4233, NCIT:C3745]
synonym: "clear cell sarcoma of soft tissue" EXACT [NCIT:C3745]
synonym: "clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)" EXACT [NCIT:C3745]
synonym: "malignant melanoma of soft parts" RELATED [DOID:4233]
synonym: "malignant melanoma of soft tissues" EXACT [DOID:4233]
synonym: "malignant melanoma of the soft parts" EXACT [NCIT:C3745]
synonym: "melanoma, malignant, of soft parts" EXACT [DOID:4233]
xref: DOID:4233 {source="MONDO:equivalentTo"}
xref: EFO:0008498 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9044/3 {source="NCIT:C3745"}
xref: MEDGEN:104909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018227 {source="DOID:4233", source="MONDO:equivalentTo"}
xref: NANDO:2200062 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27370 {source="DOID:4233"}
xref: NCIT:C3745 {source="DOID:4233", source="MONDO:equivalentTo"}
xref: ONCOTREE:CCS {source="MONDO:equivalentTo"}
xref: SCTID:12622007 {source="DOID:4233"}
xref: SCTID:271944004 {source="DOID:4233"}
xref: SCTID:402561003 {source="DOID:4233", source="MONDO:equivalentTo"}
xref: UMLS:C0206651 {source="MEDGEN:104909", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DOID:4233", source="EFO:0008498/inferred", source="MESH:D018227", source="MONDO:Redundant", source="NCIT:C3745/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="EFO:0008498", source="NCIT:C3745"} ! soft tissue sarcoma

[Term]
id: MONDO:0002927
name: spindle cell sarcoma
def: "A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas." [NCIT:C27005]
subset: otar {source="MONDO:OTAR"}
synonym: "spindle cell sarcoma" EXACT [NCIT:C27005]
xref: DOID:4235 {source="MONDO:equivalentTo"}
xref: ICDO:8801/3 {source="NCIT:C27005"}
xref: MEDGEN:64477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012509 {source="DOID:4235"}
xref: NCIT:C27005 {source="DOID:4235", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:9801004 {source="DOID:4235"}
xref: UMLS:C0205945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64477"}
is_a: MONDO:0005089 {source="DOID:4235", source="NCIT:C27005"} ! sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell

[Term]
id: MONDO:0002928
name: carcinosarcoma
def: "A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements." [NCIT:C34448]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinosarcoma" EXACT [NCIT:C34448]
synonym: "carcinosarcoma, malignant" EXACT [NCIT:C34448]
synonym: "malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:4236]
synonym: "malignant mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 []
synonym: "malignant mixed Mullerian tumor" EXACT [DOID:4236]
synonym: "malignant mixed Mullerian tumour" EXACT OMO:0003005 []
synonym: "mesodermal mixed tumor" EXACT [DOID:4236]
synonym: "mesodermal mixed tumor (morphologic abnormality)" EXACT [DOID:4236]
synonym: "mesodermal mixed tumour" EXACT OMO:0003005 []
synonym: "mesodermal mixed tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "mixed mesodermal (mullerian) tumor" EXACT [DOID:4236, NCIT:C3730]
synonym: "mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 []
synonym: "mixed Mullerian tumor" RELATED [GARD:0006966]
synonym: "mixed Mullerian tumour" RELATED OMO:0003005 []
synonym: "mixed tumor, Mullerian" RELATED [GARD:0006966]
synonym: "MMMT" EXACT ABBREVIATION [DOID:4236, NCIT:C8975]
synonym: "mullerian mixed tumor" EXACT [DOID:4236]
synonym: "mullerian mixed tumor (morphologic abnormality)" EXACT [DOID:4236]
synonym: "mullerian mixed tumour" EXACT OMO:0003005 []
synonym: "mullerian mixed tumour (morphologic abnormality)" EXACT OMO:0003005 []
xref: DOID:4236 {source="MONDO:equivalentTo"}
xref: ICDO:8980/3 {source="NCIT:C34448"}
xref: MEDGEN:2876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002296 {source="DOID:4236", source="MONDO:equivalentTo"}
xref: MESH:D018199 {source="DOID:4236"}
xref: MESH:D018200 {source="DOID:4236"}
xref: NCIT:C34448 {source="MONDO:equivalentTo"}
xref: SCTID:112684005 {source="DOID:4236"}
xref: SCTID:189808004 {source="DOID:4236"}
xref: SCTID:63264007 {source="DOID:4236"}
xref: SCTID:84427001 {source="DOID:4236"}
xref: UMLS:C0007140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2876"}
is_a: MONDO:0005853 {source="DOID:4236", source="NCIT:C34448"} ! malignant mixed neoplasm

[Term]
id: MONDO:0002929
name: pulmonary immaturity
synonym: "primary atelectasis of newborn" EXACT [DOID:424, ICD9CM:770.4]
synonym: "primary atelectasis, in perinatal period" EXACT [DOID:424]
xref: DOID:424 {source="MONDO:equivalentTo"}
xref: ICD10CM:P28.0 {source="DOID:424"}
xref: ICD9:770.4 {source="DOID:424", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:542574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:123275009 {source="DOID:424"}
xref: SCTID:42908004 {source="DOID:424", source="MONDO:equivalentTo"}
xref: UMLS:C0270163 {source="MEDGEN:542574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 {source="DOID:424"} ! lung disorder

[Term]
id: MONDO:0002930
name: kidney sarcoma
def: "A sarcoma involving a kidney." [MONDO:patterns/sarcoma]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "kidney sarcoma" EXACT [MONDO:patterns/location, NCIT:C4525]
synonym: "renal sarcoma" EXACT [DOID:4242, NCIT:C4525]
synonym: "sarcoma of kidney" EXACT [MONDO:patterns/sarcoma, NCIT:C4525]
synonym: "sarcoma of the kidney" EXACT [NCIT:C4525]
xref: DOID:4242 {source="MONDO:equivalentTo"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4525 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4242"}
xref: SCTID:254918001 {source="MONDO:equivalentTo", source="DOID:4242"}
xref: UMLS:C0346251 {source="MEDGEN:87548", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002367 {source="DOID:4242", source="MONDO:Redundant", source="NCIT:C4525"} ! kidney cancer
is_a: MONDO:0005089 {source="DOID:4242", source="MONDO:Redundant", source="NCIT:C4525/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C4525"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0002931
name: conjunctivochalasis
xref: DOID:4250 {source="MONDO:equivalentTo"}
xref: ICD10CM:H11.82 {source="DOID:4250"}
xref: ICD9:372.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:4250"}
xref: MEDGEN:678824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:408663001 {source="MONDO:equivalentTo", source="DOID:4250"}
xref: UMLS:C0878693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:678824"}
is_a: MONDO:0006170 {source="DOID:4250"} ! conjunctival disorder

[Term]
id: MONDO:0002932
name: obsolete conjunctival disease
is_obsolete: true
replaced_by: MONDO:0006170

[Term]
id: MONDO:0002933
name: osteosclerosis
def: "Abnormally high bone density." [NCIT:C41236]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4254 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q78.2 {source="DOID:4254"}
xref: MEDGEN:10502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010026 {source="DOID:4254", source="MONDO:equivalentTo"}
xref: NANDO:2201022 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C41236 {source="DOID:4254", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: SCTID:49347007 {source="DOID:4254", source="MONDO:equivalentTo"}
xref: UMLS:C0029464 {source="MEDGEN:10502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000833 {source="DOID:4254"} ! bone remodeling disease

[Term]
id: MONDO:0002934
name: intravascular angioleiomyoma
def: "A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels." [NCIT:C5355]
synonym: "intravascular angioleiomyoma" EXACT [NCIT:C5355]
synonym: "intravascular angiomyoma" EXACT [NCIT:C5355]
xref: DOID:4266 {source="MONDO:equivalentTo"}
xref: MEDGEN:233577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5355 {source="DOID:4266", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233577"}
is_a: MONDO:0006646 {source="DOID:4266", source="NCIT:C5355"} ! angioleiomyoma
relationship: disease_has_location UBERON:0007798 {source="NCIT:C5355"} ! vascular system

[Term]
id: MONDO:0002935
name: penis basal cell carcinoma
def: "A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans." [NCIT:C39961]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "basal cell carcinoma of the penis" EXACT [DOID:4277, NCIT:C39961]
synonym: "penile basal cell cancer" EXACT [NCIT:C39961]
synonym: "penile basal cell carcinoma" EXACT [NCIT:C39961]
synonym: "penis skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of penis" EXACT [MONDO:design_pattern]
synonym: "skin of penis skin basal cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4277 {source="MONDO:equivalentTo"}
xref: MEDGEN:275349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39961 {source="DOID:4277", source="MONDO:equivalentTo"}
xref: UMLS:C1518949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275349"}
is_a: MONDO:0005341 {source="DOID:4277", source="MONDO:Redundant", source="NCIT:C39961"} ! skin basal cell carcinoma
is_a: MONDO:0006360 {source="DOID:4277", source="MONDO:Redundant", source="NCIT:C39961"} ! penile carcinoma
intersection_of: MONDO:0005341 ! skin basal cell carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis
relationship: disease_has_location UBERON:0001331 ! skin of penis

[Term]
id: MONDO:0002936
name: scrotum basal cell carcinoma
def: "A scrotal carcinoma that involves the basal cell." [MONDO:patterns/location]
synonym: "basal cell carcinoma of scrotum" EXACT [DOID:4278, NCIT:C6386]
synonym: "basal cell carcinoma of the scrotum" RELATED [DOID:4278]
synonym: "basal cell scrotal carcinoma" EXACT [MONDO:patterns/location]
synonym: "scrotal basal cell carcinoma" EXACT [NCIT:C6386]
synonym: "scrotum skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of scrotum" EXACT [MONDO:design_pattern]
xref: DOID:4278 {source="MONDO:equivalentTo"}
xref: MEDGEN:233437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6386 {source="DOID:4278", source="MONDO:equivalentTo"}
xref: UMLS:C1335934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233437"}
is_a: MONDO:0002650 {source="DOID:4278", source="MONDO:Redundant", source="NCIT:C6386"} ! scrotal carcinoma
is_a: MONDO:0005341 {source="MONDO:Redundant", source="NCIT:C6386"} ! skin basal cell carcinoma
intersection_of: MONDO:0005341 ! skin basal cell carcinoma
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0002937
name: nodular basal cell carcinoma
def: "A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated." [NCIT:P378]
synonym: "basal cell carcinoma, nodular" EXACT [DOID:4280]
synonym: "basal cell carcinoma, nodular (morphologic abnormality)" EXACT [DOID:4280]
synonym: "circumscribed solid basal cell carcinoma" EXACT [DOID:4280]
synonym: "Nodulo-ulcerative basal cell carcinoma" EXACT [NCIT:C5568]
synonym: "Rodent Ulcer" EXACT [NCIT:C5568]
synonym: "skin nodulo-ulcerative basal cell carcinoma" EXACT [DOID:4280]
synonym: "skin solid (nodular) basal cell carcinoma" EXACT [DOID:4280, NCIT:C5616]
xref: DOID:4280 {source="MONDO:equivalentTo"}
xref: MEDGEN:908229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5568 {source="MONDO:equivalentTo"}
xref: NCIT:C62282 {source="DOID:4280"}
xref: SCTID:128636006 {source="DOID:4280"}
xref: SCTID:403910009 {source="MONDO:equivalentTo", source="DOID:4280"}
xref: UMLS:C4083056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908229"}
is_a: MONDO:0005341 {source="DOID:4280", source="NCIT:C5568/inferred"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002938
name: metatypical basal cell carcinoma
def: "A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma." [NCIT:C66903]
synonym: "basosquamous carcinoma of skin" EXACT [DOID:4281]
synonym: "skin metatypical basal cell carcinoma" EXACT [DOID:4281]
synonym: "skin metatypical carcinoma" EXACT [DOID:4281, NCIT:C2922]
xref: DOID:4281 {source="MONDO:equivalentTo"}
xref: ICDO:8095/3 {source="NCIT:C66903"}
xref: MEDGEN:362831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C66903 {source="MONDO:equivalentTo"}
xref: SCTID:254702000 {source="MONDO:equivalentTo"}
xref: UMLS:C1883040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:362831"}
is_a: MONDO:0005341 {source="DOID:4281", source="NCIT:C66903"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002939
name: skin pigmented basal cell carcinoma
def: "A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002." [NCIT:P378]
synonym: "pigmented basal cell carcinoma" EXACT [DOID:4282, NCIT:C9359]
synonym: "skin pigmented basal cell carcinoma" EXACT [NCIT:C9359]
xref: DOID:4282 {source="MONDO:equivalentTo"}
xref: MEDGEN:237149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9359 {source="MONDO:equivalentTo"}
xref: SCTID:403909004 {source="MONDO:equivalentTo"}
xref: UMLS:C1368275 {source="MEDGEN:237149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005341 {source="DOID:4282", source="NCIT:C9359"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002940
name: anal margin basal cell carcinoma
def: "A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare." [NCIT:C7473]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal margin basal cell carcinoma" EXACT [NCIT:C7473]
synonym: "basal cell carcinoma of anal margin" EXACT [DOID:4283, NCIT:C7473]
synonym: "basal cell carcinoma of perianal skin" EXACT [DOID:4283, NCIT:C7473]
synonym: "basal cell carcinoma of the anal margin" EXACT [NCIT:C7473]
synonym: "basal cell carcinoma of the perianal skin" EXACT [NCIT:C7473]
synonym: "perianal skin basal cell carcinoma" EXACT [NCIT:C7473]
synonym: "perianal skin skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of perianal skin" EXACT [MONDO:design_pattern]
xref: DOID:4283 {source="MONDO:equivalentTo"}
xref: ICD10CM:C44.510 {source="DOID:4283"}
xref: MEDGEN:231371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7473 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4283"}
xref: UMLS:C1332269 {source="MEDGEN:231371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002941 {source="DOID:4283", source="MONDO:Redundant", source="NCIT:C7473"} ! anal margin carcinoma
is_a: MONDO:0005341 {source="DOID:4283", source="MONDO:Redundant", source="NCIT:C7473"} ! skin basal cell carcinoma
intersection_of: MONDO:0005341 ! skin basal cell carcinoma
intersection_of: disease_has_location UBERON:0012336 ! perianal skin

[Term]
id: MONDO:0002941
name: anal margin carcinoma
def: "A carcinoma that arises from epithelial cells of the perianal skin" [https://orcid.org/0000-0002-6601-2165]
synonym: "anal margin cancer" EXACT [NCIT:C7472]
synonym: "anal margin carcinoma" EXACT [NCIT:C7472]
synonym: "carcinoma of anal margin" EXACT [DOID:4284, NCIT:C7472]
synonym: "carcinoma of perianal skin" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the anal margin" EXACT [NCIT:C7472]
synonym: "perianal skin carcinoma" EXACT [DOID:4284, MONDO:patterns/location, NCIT:C7472]
xref: DOID:4284 {source="MONDO:equivalentTo"}
xref: MEDGEN:87604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7472 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4284"}
xref: SCTID:255084004 {source="DOID:4284"}
xref: UMLS:C0349534 {source="MEDGEN:87604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002656 {source="DOID:4284", source="MONDO:Redundant", source="NCIT:C7472"} ! skin carcinoma
is_a: MONDO:0003199 {source="DOID:4284", source="NCIT:C7472"} ! anal carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0012336 ! perianal skin

[Term]
id: MONDO:0002942
name: sebaceous basal cell carcinoma
synonym: "skin basosebaceous basal cell carcinoma" EXACT [DOID:4286]
xref: DOID:4286 {source="MONDO:equivalentTo"}
xref: MEDGEN:83180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0334683 {source="MEDGEN:83180", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005341 {source="DOID:4286"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002943
name: external ear basal cell carcinoma
def: "A basal cell carcinoma that arises from the skin of the external ear." [NCIT:C6082]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "basal cell carcinoma of external Ear" EXACT [NCIT:C6082]
synonym: "basal cell carcinoma of external ear" RELATED [DOID:4287]
synonym: "basal cell carcinoma of the external Ear" EXACT [NCIT:C6082]
synonym: "basal cell carcinoma of the external ear" EXACT [DOID:4287, NCIT:C6082]
synonym: "basal cell external ear carcinoma" EXACT [MONDO:patterns/location]
synonym: "external Ear basal cell carcinoma" EXACT [NCIT:C6082]
synonym: "external ear skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of external ear" EXACT [MONDO:design_pattern]
xref: DOID:4287 {source="MONDO:equivalentTo"}
xref: MEDGEN:234239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6082 {source="DOID:4287", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234239"}
is_a: MONDO:0002944 {source="DOID:4287", source="MONDO:Redundant", source="NCIT:C6082"} ! external ear carcinoma
is_a: MONDO:0005341 {source="MONDO:Redundant", source="NCIT:C6082"} ! skin basal cell carcinoma
intersection_of: MONDO:0005341 ! skin basal cell carcinoma
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0002944
name: external ear carcinoma
def: "A carcinoma that arises from epithelial cells of the external ear" [https://orcid.org/0000-0002-6601-2165]
synonym: "carcinoma of external Ear" EXACT [NCIT:C6081]
synonym: "carcinoma of external ear" EXACT [DOID:4288, MONDO:patterns/carcinoma]
synonym: "carcinoma of the external Ear" EXACT [NCIT:C6081]
synonym: "carcinoma of the external ear" EXACT [DOID:4288, NCIT:C6081]
synonym: "external Ear carcinoma" EXACT [NCIT:C6081]
synonym: "external ear carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4288 {source="MONDO:equivalentTo"}
xref: MEDGEN:272600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6081 {source="DOID:4288", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272600"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C6081/inferred"} ! head and neck carcinoma
is_a: MONDO:0003574 {source="DOID:4288", source="MONDO:Redundant", source="NCIT:C6081"} ! external ear cancer
is_a: MONDO:0004993 {source="DOID:4288", source="MONDO:Redundant", source="NCIT:C6081/inferred"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0002945
name: micronodular basal cell carcinoma
def: "A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back." [NCIT:C27541]
synonym: "skin micronodular basal cell carcinoma" EXACT [DOID:4289]
xref: DOID:4289 {source="MONDO:equivalentTo"}
xref: MEDGEN:234567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27541 {source="MONDO:equivalentTo"}
xref: SCTID:402529002 {source="MONDO:equivalentTo"}
xref: UMLS:C1367861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234567"}
is_a: MONDO:0005341 {source="DOID:4289", source="NCIT:C27541"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002946
name: gynatresia
def: "A congenital or acquired occlusion of an opening in any part of the female genital tract." [NCIT:P378]
xref: DOID:429 {source="MONDO:equivalentTo"}
xref: MEDGEN:42316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006175 {source="MONDO:equivalentTo", source="DOID:429"}
xref: NCIT:C84743 {source="MONDO:equivalentTo", source="DOID:429"}
xref: UMLS:C0018414 {source="MEDGEN:42316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:429", source="MESH:D006175"} ! female reproductive system disorder

[Term]
id: MONDO:0002947
name: adamantinoid basal cell epithelioma
synonym: "adamantinoid basal cell carcinoma" EXACT [NCIT:C7585]
synonym: "basal cell carcinoma - adamantinoid" EXACT [DOID:4290]
synonym: "melanotic adamantinoma of skin" EXACT [DOID:4290]
synonym: "skin adamantinoid basal cell carcinoma" EXACT [NCIT:C7585]
synonym: "skin adamantinoid basal cell epithelioma" EXACT [DOID:4290]
xref: DOID:4290 {source="MONDO:equivalentTo"}
xref: MEDGEN:227004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7585 {source="MONDO:equivalentTo", source="DOID:4290"}
xref: SCTID:254728002 {source="DOID:4290"}
xref: SCTID:402524007 {source="MONDO:equivalentTo", source="DOID:4290"}
xref: UMLS:C1304295 {source="MEDGEN:227004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005341 {source="DOID:4290", source="NCIT:C7585"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002948
name: skin fibroepithelial basal cell carcinoma
def: "A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course." [NCIT:P378]
synonym: "fibroepithelial basal cell carcinoma" RELATED [DOID:4291]
synonym: "fibroepithelioma of Pinkus" EXACT [NCIT:C4109]
synonym: "fibroepithelioma of Pinkus type" EXACT [DOID:4291]
synonym: "Pinkus tumor" EXACT [DOID:4291, NCIT:C4109]
synonym: "Pinkus tumour" EXACT OMO:0003005 []
xref: DOID:4291 {source="MONDO:equivalentTo"}
xref: ICDO:8093/3 {source="NCIT:C4109"}
xref: MEDGEN:87529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4109 {source="MONDO:equivalentTo", source="DOID:4291"}
xref: SCTID:254703005 {source="MONDO:equivalentTo", source="DOID:4291"}
xref: SCTID:43369006 {source="DOID:4291"}
xref: UMLS:C0346013 {source="MONDO:equivalentTo", source="MEDGEN:87529", source="MONDO:MEDGEN"}
is_a: MONDO:0005341 {source="DOID:4291", source="NCIT:C4109"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002949
name: morpheaform basal cell carcinoma
def: "A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma." [NCIT:P378]
synonym: "basal cell carcinoma sclerosing type" EXACT [NCIT:C27182]
synonym: "basal cell carcinoma, morphea" EXACT [DOID:4292]
synonym: "cicatricial basal-cell carcinoma" EXACT [DOID:4292]
synonym: "morphea-type (sclerosing) basal cell carcinoma" EXACT [DOID:4292, NCIT:C27182]
synonym: "morphea-type basal cell carcinoma" EXACT [NCIT:C27182]
synonym: "morpheaform basal cell carcinoma" EXACT [NCIT:C27182]
synonym: "sclerosing type basal cell carcinoma" EXACT [NCIT:C27182]
synonym: "skin morphea-type (sclerosing) basal cell carcinoma" EXACT [NCIT:C27182]
xref: DOID:4292 {source="MONDO:equivalentTo"}
xref: MEDGEN:107825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27182 {source="MONDO:equivalentTo", source="DOID:4292"}
xref: SCTID:134152008 {source="DOID:4292"}
xref: SCTID:302821007 {source="DOID:4292"}
xref: SCTID:403913006 {source="MONDO:equivalentTo", source="DOID:4292"}
xref: SCTID:56665009 {source="DOID:4292"}
xref: UMLS:C0555191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107825"}
is_a: MONDO:0005341 {source="DOID:4292", source="NCIT:C27182"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002950
name: skin clear cell basal cell carcinoma
def: "A morphologic variant of basal cell carcinoma characterized by the presence of clear cells." [NCIT:P378]
synonym: "clear cell basal cell carcinoma" EXACT [DOID:4293, NCIT:C27536]
synonym: "skin clear cell basal cell carcinoma" EXACT [NCIT:C27536]
xref: DOID:4293 {source="MONDO:equivalentTo"}
xref: MEDGEN:275752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27536 {source="MONDO:equivalentTo", source="DOID:4293"}
xref: UMLS:C1516599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275752"}
is_a: MONDO:0005341 {source="DOID:4293", source="NCIT:C27536"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002951
name: skin adenoid basal cell carcinoma
def: "A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern." [NCIT:C27535]
comment: Editor note: adenoid refers to histological subtype, not tonsils
synonym: "adenoid basal cell carcinoma" EXACT [DOID:4294, NCIT:C27535]
synonym: "skin adenoid basal cell carcinoma" EXACT [NCIT:C27535]
xref: DOID:4294 {source="MONDO:equivalentTo"}
xref: ICDO:8098/3 {source="NCIT:C27535"}
xref: MEDGEN:266272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27535 {source="MONDO:equivalentTo"}
xref: SCTID:402525008 {source="MONDO:equivalentTo"}
xref: UMLS:C1304296 {source="MEDGEN:266272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005341 {source="DOID:4294", source="NCIT:C27535"} ! skin basal cell carcinoma
relationship: excluded_subClassOf MONDO:0006998 {source="DOID:4294", source="https://orcid.org/0000-0001-5208-3432"} ! tonsil cancer

[Term]
id: MONDO:0002952
name: follicular basal cell carcinoma
synonym: "follicular (pilar) basal cell carcinoma" EXACT [DOID:4295]
synonym: "skin follicular basal cell carcinoma" EXACT [NCIT:C27538]
xref: DOID:4295 {source="MONDO:equivalentTo"}
xref: MEDGEN:363001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27538 {source="MONDO:equivalentTo"}
xref: SCTID:402526009 {source="MONDO:equivalentTo"}
xref: UMLS:C1883723 {source="MONDO:equivalentTo", source="MEDGEN:363001", source="MONDO:MEDGEN"}
is_a: MONDO:0005341 {source="DOID:4295", source="NCIT:C27538/inferred"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002953
name: skin infiltrative basal cell carcinoma
def: "A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues." [NCIT:P378]
synonym: "infiltrating basal cell carcinoma" EXACT [DOID:4299, NCIT:C27539]
synonym: "infiltrative basal cell carcinoma" RELATED [DOID:4299]
synonym: "skin infiltrating basal cell carcinoma" EXACT [NCIT:C27539]
xref: DOID:4299 {source="MONDO:equivalentTo"}
xref: ICDO:8092/3 {source="NCIT:C27539"}
xref: MEDGEN:87201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27539 {source="MONDO:equivalentTo"}
xref: UMLS:C0334257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87201"}
is_a: MONDO:0005341 {source="DOID:4299", source="NCIT:C27539"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002954
name: superficial multifocal basal cell carcinoma
def: "A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors." [NCIT:C4108]
synonym: "multicentric basal cell carcinoma" EXACT [DOID:4300, NCIT:C4108]
synonym: "multifocal superficial basal cell carcinoma" EXACT [DOID:4300]
synonym: "multifocal superficial basal cell carcinoma (morphologic abnormality)" EXACT [DOID:4300]
synonym: "superficial basal cell carcinoma" RELATED [DOID:4300]
synonym: "superficial multicentric basal-cell carcinoma" EXACT [DOID:4300]
synonym: "superficial multifocal basal cell carcinoma" EXACT [NCIT:C4108]
xref: DOID:4300 {source="MONDO:equivalentTo"}
xref: ICDO:8091/3 {source="NCIT:C4108"}
xref: MEDGEN:87200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4108 {source="DOID:4300", source="MONDO:equivalentTo"}
xref: SCTID:403914000 {source="MONDO:equivalentTo"}
xref: SCTID:61098004 {source="DOID:4300"}
xref: UMLS:C0334256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87200"}
is_a: MONDO:0005341 {source="DOID:4300", source="NCIT:C4108/inferred"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002955
name: vulva basal cell carcinoma
def: "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." [NCIT:C6381]
subset: gard_rare {source="GARD:22006", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:494451"}
subset: rare
synonym: "basal cell carcinoma of the vulva" EXACT [DOID:4301, NCIT:C6381]
synonym: "basal cell carcinoma of vulva" EXACT [DOID:4301, NCIT:C6381]
synonym: "mammalian vulva skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin basal cell carcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "vulvar basal cell cancer" EXACT [NCIT:C6381]
synonym: "vulvar basal cell carcinoma" EXACT [NCIT:C6381]
xref: DOID:4301 {source="MONDO:equivalentTo"}
xref: GARD:22006 {source="MONDO:GARD"}
xref: icd11.foundation:247568702 {source="Orphanet:494451", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:234481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6381 {source="DOID:4301", source="MONDO:equivalentTo"}
xref: Orphanet:494451 {source="MONDO:equivalentTo"}
xref: SCTID:717731002 {source="MONDO:equivalentTo"}
xref: UMLS:C1336977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234481"}
is_a: MONDO:0005215 {source="DOID:4301", source="MONDO:Redundant", source="NCIT:C6381", source="Orphanet:494451"} ! vulvar carcinoma
is_a: MONDO:0005341 {source="DOID:4301", source="MONDO:Redundant", source="NCIT:C6381"} ! skin basal cell carcinoma
intersection_of: MONDO:0005341 ! skin basal cell carcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0002956
name: skin cystic basal cell carcinoma
synonym: "cystic basal cell carcinoma" EXACT [DOID:4302, NCIT:C27537]
synonym: "skin cystic basal cell carcinoma" EXACT [NCIT:C27537]
xref: DOID:4302 {source="MONDO:equivalentTo"}
xref: MEDGEN:224810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27537 {source="MONDO:equivalentTo"}
xref: SCTID:403912001 {source="MONDO:equivalentTo"}
xref: UMLS:C1275193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224810"}
is_a: MONDO:0005341 {source="DOID:4302", source="NCIT:C27537"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002957
name: sarcomatoid basal cell carcinoma
synonym: "skin sarcomatoid basal cell carcinoma" EXACT [DOID:4303, NCIT:C38111]
xref: DOID:4303 {source="MONDO:equivalentTo"}
xref: MEDGEN:275402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38111 {source="DOID:4303", source="MONDO:equivalentTo"}
xref: UMLS:C1519182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275402"}
is_a: MONDO:0005341 {source="DOID:4303", source="NCIT:C38111"} ! skin basal cell carcinoma
is_a: MONDO:0006406 {source="NCIT:C38111"} ! sarcomatoid carcinoma

[Term]
id: MONDO:0002958
name: signet ring basal cell carcinoma
synonym: "signet Ring cell basal cell carcinoma" EXACT [NCIT:C38110]
synonym: "skin signet Ring cell basal cell carcinoma" EXACT [NCIT:C38110]
synonym: "skin signet ring cell basal cell carcinoma" EXACT [DOID:4304]
xref: DOID:4304 {source="MONDO:equivalentTo"}
xref: MEDGEN:276814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38110 {source="MONDO:equivalentTo", source="DOID:4304"}
xref: UMLS:C1519320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276814"}
is_a: MONDO:0005341 {source="DOID:4304", source="NCIT:C38110"} ! skin basal cell carcinoma

[Term]
id: MONDO:0002959
name: radiculopathy
def: "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root." [MESH:D011843]
comment: Editor note: DO classifies under polyradiculopathy, which we invert
subset: otar {source="MONDO:OTAR"}
synonym: "nerve root disorder" EXACT [DOID:4306]
synonym: "nerve root disorder, NOS" RELATED EXCLUDE [DOID:4306]
xref: DOID:4306 {source="MONDO:equivalentTo"}
xref: ICD10CM:M54.1 {source="MONDO:equivalentTo", source="DOID:4306"}
xref: ICD10CM:M54.10 {source="DOID:4306"}
xref: MEDGEN:147133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011843 {source="MONDO:equivalentTo", source="DOID:4306"}
xref: SCTID:394640000 {source="DOID:4306"}
xref: SCTID:72274001 {source="MONDO:equivalentTo", source="DOID:4306"}
xref: UMLS:C0700594 {source="MEDGEN:147133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003620 {source="DOID:4306/inferred", source="MESH:D011843"} ! peripheral nervous system disorder
relationship: excluded_subClassOf MONDO:0002960 {source="DOID:4306", source="https://orcid.org/0000-0001-5208-3432"} ! polyradiculopathy

[Term]
id: MONDO:0002960
name: polyradiculopathy
def: "A radiculopathy that is present in more than one nerve." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4307 {source="MONDO:equivalentTo"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:46011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011128 {source="MONDO:equivalentTo", source="DOID:4307"}
xref: NCIT:C34934 {source="MONDO:equivalentTo", source="DOID:4307"}
xref: SCTID:75572007 {source="MONDO:equivalentTo", source="DOID:4307"}
xref: UMLS:C0032586 {source="MEDGEN:46011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001824 {source="DOID:4307/inferred", source="MESH:D011128/inferred", source="MONDO:Redundant"} ! polyneuropathy
is_a: MONDO:0006915 {source="DOID:4307", source="MESH:D011128"} ! polyradiculoneuropathy

[Term]
id: MONDO:0002961
name: large cell acanthoma
xref: DOID:4321 {source="MONDO:equivalentTo"}
xref: MEDGEN:235249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27518 {source="DOID:4321", source="MONDO:equivalentTo"}
xref: UMLS:C1334362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235249"}
is_a: MONDO:0002093 {source="DOID:4321", source="NCIT:C27518"} ! acanthoma

[Term]
id: MONDO:0002962
name: epidermolytic acanthoma
def: "A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis." [NCIT:P378]
xref: DOID:4323 {source="MONDO:equivalentTo"}
xref: MEDGEN:272577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27516 {source="DOID:4323", source="MONDO:equivalentTo"}
xref: UMLS:C1333414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272577"}
is_a: MONDO:0002093 {source="DOID:4323", source="NCIT:C27516"} ! acanthoma

[Term]
id: MONDO:0002963
name: acantholytic acanthoma
def: "A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis." [NCIT:P378]
synonym: "acantholytic acanthoma" EXACT [DOID:4324, NCIT:C27517]
xref: DOID:4324 {source="MONDO:equivalentTo"}
xref: MEDGEN:220970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27517 {source="DOID:4324", source="MONDO:equivalentTo"}
xref: SCTID:397188008 {source="DOID:4324"}
xref: UMLS:C1301270 {source="MEDGEN:220970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002093 {source="DOID:4324", source="NCIT:C27517"} ! acanthoma

[Term]
id: MONDO:0002964
name: obsolete non-Langerhans-cell histiocytosis
is_obsolete: true
replaced_by: MONDO:0015531

[Term]
id: MONDO:0002965
name: parovarian cyst
def: "A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni)." [MESH:D010310]
synonym: "cyst, fimbrial" EXACT [DOID:4333]
synonym: "cyst, Paratubal" RELATED [MESH:D010310]
synonym: "cyst, parovarian" RELATED [MESH:D010310]
synonym: "cysts, Paratubal" RELATED [MESH:D010310]
synonym: "cysts, parovarian" RELATED [MESH:D010310]
synonym: "embryonic fimbrial cyst" EXACT [DOID:4333]
synonym: "fimbrial cyst" RELATED []
synonym: "hydatid cyst of Morgagni" RELATED [MESH:D010310]
synonym: "hydatid of Morgagni" RELATED [MESH:D010310]
synonym: "Morgagni hydatid" RELATED [MESH:D010310]
synonym: "Morgagni hydatid cyst" RELATED [MESH:D010310]
synonym: "Morgagni hydatid cysts" RELATED [MESH:D010310]
synonym: "Morgagni Hydatids" RELATED [MESH:D010310]
synonym: "Paratubal cyst" RELATED [MESH:D010310]
synonym: "Paratubal cysts" RELATED [MESH:D010310]
synonym: "parovarian cyst" EXACT []
synonym: "parovarian cysts" RELATED [MESH:D010310]
xref: DOID:4333 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q50.4 {source="DOID:4333"}
xref: ICD10CM:Q50.5 {source="DOID:4333"}
xref: MEDGEN:14622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010310 {source="DOID:4333", source="MONDO:equivalentTo"}
xref: SCTID:204831002 {source="DOID:4333"}
xref: SCTID:64233004 {source="DOID:4333", source="MONDO:equivalentTo"}
xref: UMLS:C0030584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14622"}
is_a: MONDO:0002263 {source="DOID:4333"} ! female reproductive system disorder
is_a: MONDO:0024652 ! embryonic cyst of fallopian tube

[Term]
id: MONDO:0002966
name: splenic manifestation of prolymphocytic leukemia
def: "A prolymphocytic leukemia that involves the spleen." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "prolymphocytic leukaemia of spleen" EXACT OMO:0003005 []
synonym: "prolymphocytic leukemia of spleen" EXACT [MONDO:design_pattern]
synonym: "spleen prolymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "spleen prolymphocytic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "splenic manifestation of prolymphocytic leukemia" EXACT [NCIT:C7297]
xref: DOID:4334 {source="MONDO:equivalentTo"}
xref: MEDGEN:277663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7297 {source="DOID:4334", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336066 {source="MONDO:equivalentTo", source="MEDGEN:277663", source="MONDO:MEDGEN"}
is_a: MONDO:0001023 {source="MONDO:Redundant", source="NCIT:C7297"} ! prolymphocytic leukemia
is_a: MONDO:0004107 {source="DOID:4334", source="MONDO:Redundant", source="NCIT:C7297"} ! splenic manifestation of leukemia
intersection_of: MONDO:0001023 ! prolymphocytic leukemia
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0002967
name: dermatophytosis of scalp or beard
def: "Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area." [NCIT:C34536]
synonym: "dermatophytosis of scalp" RELATED [DOID:4337]
synonym: "dermatophytosis of scalp and beard" EXACT [DOID:4337, NCIT:C34536]
synonym: "scalp dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "scalp ringworm" EXACT [DOID:4337]
synonym: "tinea capitis" RELATED [DOID:4337]
synonym: "tinea capitis due to Trichophyton rubrum" EXACT [DOID:4337]
synonym: "Trichophyton rubrum tinea capitis" EXACT [DOID:4337]
xref: DOID:4337 {source="MONDO:equivalentTo"}
xref: ICD9:110.0 {source="MONDO:equivalentTo", source="DOID:4337", source="MONDO:i2s"}
xref: MEDGEN:4237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34536 {source="MONDO:equivalentTo", source="DOID:4337"}
xref: SCTID:186985002 {source="DOID:4337"}
xref: SCTID:186987005 {source="DOID:4337"}
xref: SCTID:266148000 {source="MONDO:equivalentTo", source="DOID:4337"}
xref: UMLS:C0011640 {source="MEDGEN:4237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004678 {source="DOID:4337", source="MONDO:Redundant", source="NCIT:C34536"} ! dermatophytosis
intersection_of: MONDO:0004678 ! dermatophytosis
intersection_of: disease_has_location UBERON:0000403 ! scalp

[Term]
id: MONDO:0002968
name: lymphocele
def: "A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery." [NCIT:P378]
synonym: "lymph cyst" EXACT [DOID:4347]
xref: DOID:4347 {source="MONDO:equivalentTo"}
xref: ICD9:457.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008210 {source="DOID:4347", source="MONDO:equivalentTo"}
xref: NCIT:C78442 {source="DOID:4347", source="MONDO:otherHierarchy"}
xref: SCTID:12167004 {source="DOID:4347"}
xref: SCTID:234109007 {source="DOID:4347"}
xref: SCTID:234110002 {source="DOID:4347", source="MONDO:equivalentTo"}
xref: UMLS:C0024248 {source="MEDGEN:7414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005833 {source="DOID:4347", source="MESH:D008210"} ! lymphatic system disorder

[Term]
id: MONDO:0002969
name: ciliary body cancer
def: "A malignant neoplasm involving the ciliary body." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of ciliary body" EXACT [MONDO:patterns/cancer]
synonym: "ciliary body cancer" EXACT [MONDO:patterns/location]
synonym: "malignant ciliary body neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4766]
synonym: "malignant ciliary body tumor" EXACT [NCIT:C4766]
synonym: "malignant ciliary body tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of ciliary body" EXACT [DOID:4352, MONDO:patterns/cancer, NCIT:C4766]
synonym: "malignant neoplasm of the ciliary body" EXACT [NCIT:C4766]
synonym: "malignant tumor of ciliary body" EXACT [NCIT:C4766]
synonym: "malignant tumor of the ciliary body" EXACT [DOID:4352, NCIT:C4766]
synonym: "malignant tumour of ciliary body" EXACT OMO:0003005 []
synonym: "malignant tumour of the ciliary body" EXACT OMO:0003005 []
synonym: "neoplasm of ciliary body" BROAD EXCLUDE [DOID:4352]
synonym: "tumor of the ciliary body" BROAD [DOID:4352, NCIT:C4364]
synonym: "tumour of the ciliary body" BROAD OMO:0003005 []
xref: DOID:4352 {source="MONDO:equivalentTo"}
xref: ICD10CM:C69.4 {source="DOID:4352"}
xref: MEDGEN:99219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4364 {source="DOID:4352"}
xref: NCIT:C4766 {source="MONDO:equivalentTo", source="DOID:4352"}
xref: SCTID:126998003 {source="DOID:4352"}
xref: SCTID:188263008 {source="MONDO:equivalentTo", source="DOID:4352"}
xref: SCTID:93756008 {source="DOID:4352"}
xref: UMLS:C0496833 {source="MEDGEN:99219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002658 {source="DOID:4352", source="MONDO:Entailed", source="MONDO:Redundant"} ! iris cancer
is_a: MONDO:0002659 {source="DOID:4352/inferred", source="MONDO:Redundant", source="NCIT:C4766"} ! uveal cancer
is_a: MONDO:0002970 {source="DOID:4352", source="MONDO:Redundant", source="NCIT:C4766/inferred"} ! ciliary body disorder
is_a: MONDO:0021229 {source="MONDO:Redundant", source="NCIT:C4766"} ! ciliary body neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0002970
name: ciliary body disorder
def: "A disease involving the ciliary body." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "ciliary body disease" EXACT [MONDO:patterns/location, NCIT:C35775]
synonym: "ciliary body disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ciliary body disorder" EXACT [NCIT:C35775]
synonym: "disease of ciliary body" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ciliary body" EXACT []
synonym: "disorder of ciliary body" EXACT [MONDO:patterns/location_top]
xref: DOID:4353 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15-H22 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:124384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35775 {source="DOID:4353", source="MONDO:equivalentTo"}
xref: SCTID:155116005 {source="DOID:4353"}
xref: SCTID:193481009 {source="DOID:4353"}
xref: SCTID:267719008 {source="DOID:4353"}
xref: SCTID:68575007 {source="DOID:4353", source="MONDO:equivalentTo"}
xref: UMLS:C0271100 {source="MEDGEN:124384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002289 {source="DOID:4353"} ! iris disorder
is_a: MONDO:0002661 {source="DOID:4353/inferred", source="MONDO:Redundant", source="NCIT:C35775"} ! uveal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0002971
name: amelanotic melanoma
def: "A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." [NCIT:C3802]
subset: otar {source="MONDO:OTAR"}
synonym: "amelanotic melanoma" EXACT [DOID:4359, MESH:D018328, NCIT:C3802]
synonym: "amelanotic melanoma (morphologic abnormality)" EXACT [DOID:4359]
synonym: "amelanotic melanomas" RELATED [MESH:D018328]
synonym: "melanoma, amelanotic, malignant" EXACT [NCIT:C3802]
synonym: "melanomas, amelanotic" RELATED [MESH:D018328]
xref: DOID:4359 {source="MONDO:equivalentTo"}
xref: EFO:1001937 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8730/3 {source="NCIT:C3802"}
xref: MEDGEN:64644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018328 {source="MONDO:equivalentTo", source="DOID:4359"}
xref: NCIT:C3802 {source="MONDO:equivalentTo", source="DOID:4359", source="MONDO:exact-label-match"}
xref: SCTID:70594002 {source="DOID:4359"}
xref: UMLS:C0206735 {source="MEDGEN:64644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="DOID:4359", source="EFO:1001937", source="MESH:D018328", source="NCIT:C3802"} ! melanoma

[Term]
id: MONDO:0002972
name: posterior mediastinum cancer
def: "A malignant neoplasm involving the posterior mediastinum." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of posterior mediastinum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of posterior mediastinum" EXACT [MONDO:patterns/cancer]
synonym: "malignant posterior mediastinum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "posterior mediastinum cancer" EXACT [MONDO:patterns/location]
xref: DOID:436 {source="MONDO:equivalentTo"}
xref: ICD10CM:C38.2 {source="DOID:436"}
xref: ICD9:164.3 {source="DOID:436", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187888005 {source="DOID:436"}
xref: SCTID:448670003 {source="DOID:436", source="MONDO:equivalentTo"}
xref: UMLS:C0153502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509314"}
is_a: MONDO:0005843 {source="DOID:436", source="MONDO:Redundant"} ! mediastinal cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0008822 ! posterior mediastinum

[Term]
id: MONDO:0002973
name: epithelioid cell melanoma
def: "A melanoma characterized by the presence of malignant large epithelioid melanocytes." [NCIT:C4236]
subset: otar {source="MONDO:OTAR"}
synonym: "epithelioid cell malignant melanoma" EXACT [NCIT:C4236]
synonym: "epithelioid cell melanoma" EXACT [NCIT:C4236]
synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT [DOID:4360]
synonym: "epithelioid melanoma" EXACT [DOID:4360, NCIT:C4236]
xref: DOID:4360 {source="MONDO:equivalentTo"}
xref: ICDO:8771/3 {source="NCIT:C4236"}
xref: MEDGEN:137763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4236 {source="MONDO:equivalentTo", source="DOID:4360"}
xref: SCTID:37138001 {source="DOID:4360"}
xref: UMLS:C0334443 {source="MEDGEN:137763", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="DOID:4360", source="NCIT:C4236"} ! melanoma

[Term]
id: MONDO:0002974
name: cervical cancer
def: "A primary or metastatic malignant neoplasm involving the cervix." [NCIT:C9311]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of uterine cervix" EXACT [MONDO:patterns/cancer]
synonym: "cervical cancer, somatic" EXACT [OMIM:603956, OMIM:genemap2]
synonym: "cervical neoplasm" BROAD [DOID:4362]
synonym: "cervix cancer" EXACT [DOID:4362]
synonym: "cervix uteri cancer" EXACT [DOID:4362]
synonym: "malignant cervical neoplasm" EXACT [NCIT:C9311]
synonym: "malignant cervical tumor" EXACT [NCIT:C9311]
synonym: "malignant cervical tumour" EXACT OMO:0003005 []
synonym: "malignant cervix neoplasm" EXACT [NCIT:C9311]
synonym: "malignant cervix tumor" EXACT [NCIT:C9311]
synonym: "malignant cervix tumour" EXACT OMO:0003005 []
synonym: "malignant cervix uteri neoplasm" EXACT [NCIT:C9311]
synonym: "malignant cervix uteri tumor" EXACT [NCIT:C9311]
synonym: "malignant cervix uteri tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of cervix" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of cervix uteri" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of the cervix" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of the cervix uteri" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of the uterine cervix" EXACT [NCIT:C9311]
synonym: "malignant neoplasm of uterine cervix" EXACT [MONDO:patterns/cancer, NCIT:C9311]
synonym: "malignant tumor of cervix" EXACT [NCIT:C9311]
synonym: "malignant tumor of cervix uteri" EXACT [NCIT:C9311]
synonym: "malignant tumor of the cervix" EXACT [NCIT:C9311]
synonym: "malignant tumor of the cervix uteri" EXACT [NCIT:C9311]
synonym: "malignant tumor of the uterine cervix" EXACT [NCIT:C9311]
synonym: "malignant tumor of uterine cervix" EXACT [NCIT:C9311]
synonym: "malignant tumour of cervix" EXACT OMO:0003005 []
synonym: "malignant tumour of cervix uteri" EXACT OMO:0003005 []
synonym: "malignant tumour of the cervix" EXACT OMO:0003005 []
synonym: "malignant tumour of the cervix uteri" EXACT OMO:0003005 []
synonym: "malignant tumour of the uterine cervix" EXACT OMO:0003005 []
synonym: "malignant tumour of uterine cervix" EXACT OMO:0003005 []
synonym: "malignant uterine cervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9311]
synonym: "malignant uterine cervix tumor" EXACT [NCIT:C9311]
synonym: "malignant uterine cervix tumour" EXACT OMO:0003005 []
synonym: "neoplasm of uterine cervix" RELATED EXCLUDE [DOID:4362]
synonym: "tumor of the cervix uteri" BROAD [DOID:4362, NCIT:C2940]
synonym: "tumour of the cervix uteri" BROAD OMO:0003005 []
synonym: "uterine cervical neoplasm" BROAD [DOID:4362]
synonym: "uterine cervix cancer" EXACT [MONDO:patterns/location]
xref: DOID:4362 {source="MONDO:equivalentTo"}
xref: ICD10CM:C53 {source="DOID:4362"}
xref: ICD10CM:C53.9 {source="DOID:4362"}
xref: ICD9:180 {source="DOID:4362"}
xref: ICD9:180.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:180.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:4362"}
xref: MEDGEN:890252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002583 {source="DOID:4362"}
xref: NCIT:C2940 {source="DOID:4362"}
xref: NCIT:C9311 {source="MONDO:equivalentTo", source="DOID:4362"}
xref: OMIM:603956 {source="MONDO:equivalentTo", source="DOID:4362"}
xref: SCTID:123841004 {source="DOID:4362"}
xref: SCTID:188174005 {source="DOID:4362"}
xref: SCTID:188186008 {source="DOID:4362"}
xref: SCTID:254885005 {source="DOID:4362"}
xref: SCTID:363354003 {source="MONDO:equivalentTo", source="DOID:4362"}
xref: SCTID:93752005 {source="DOID:4362"}
xref: UMLS:C4048328 {source="MEDGEN:890252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002256 {source="MONDO:Redundant", source="NCIT:C9311/inferred"} ! cervix disorder
is_a: MONDO:0002715 {source="MONDO:Redundant", source="NCIT:C9311"} ! uterine cancer
is_a: MONDO:0021230 {source="MONDO:Redundant", source="NCIT:C9311"} ! uterine cervix neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0002975
name: malignant breast melanoma
def: "A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare." [NCIT:C8410]
synonym: "breast melanoma" EXACT [DOID:4364, NCIT:C8410]
synonym: "breast melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant breast melanoma" EXACT [NCIT:C8410]
synonym: "malignant melanoma of breast" EXACT [NCIT:C8410]
synonym: "malignant melanoma of the breast" EXACT [NCIT:C8410]
synonym: "melanoma (disease) of breast" EXACT []
xref: DOID:4364 {source="MONDO:equivalentTo"}
xref: MEDGEN:138069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8410 {source="DOID:4364", source="MONDO:equivalentTo"}
xref: SCTID:188050009 {source="DOID:4364", source="MONDO:equivalentTo"}
xref: UMLS:C0346787 {source="MEDGEN:138069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="DOID:4364", source="MONDO:Redundant", source="NCIT:C8410"} ! melanoma
is_a: MONDO:0007254 {source="DOID:4364", source="NCIT:C8410"} ! breast cancer
is_a: MONDO:0021100 {source="MONDO:Entailed", source="NCIT:C8410/inferred"} ! breast neoplasm
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0002976
name: stomach diverticulosis
def: "A pathological condition characterized by the presence of a number of gastric diverticula in the stomach." [MESH:D045724]
xref: DOID:4370 {source="MONDO:equivalentTo"}
xref: MEDGEN:218855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045724 {source="MONDO:equivalentTo", source="DOID:4370"}
xref: UMLS:C1148546 {source="MEDGEN:218855", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004298 {source="DOID:4370", source="MESH:D045724"} ! stomach disorder

[Term]
id: MONDO:0002977
name: autoimmune disorder of the nervous system
def: "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." [NCIT:C99383]
subset: otar {source="MONDO:OTAR"}
synonym: "autoimmune disease of nervous system" EXACT [MONDO:design_pattern]
synonym: "autoimmune disease, neurologic" EXACT [MESH:D020274]
synonym: "autoimmune diseases, nervous system" EXACT [MESH:D020274]
synonym: "autoimmune diseases, neurologic" EXACT [MESH:D020274]
synonym: "autoimmune disorders of the nervous system" EXACT [MESH:D020274]
synonym: "autoimmune disorders, nervous system" EXACT [MESH:D020274]
synonym: "autoimmune nervous system diseases" EXACT [MESH:D020274]
synonym: "autoimmune nervous system disorder" EXACT [DOID:438, NCIT:C99383]
synonym: "disease, neurologic autoimmune" EXACT [MESH:D020274]
synonym: "diseases, neurologic autoimmune" EXACT [MESH:D020274]
synonym: "immune diseases, nervous system" EXACT [MESH:D020274]
synonym: "immune disorders, nervous system" EXACT [MESH:D020274]
synonym: "nervous system autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nervous system autoimmune diseases" EXACT [MESH:D020274]
synonym: "nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
synonym: "nervous system immune diseases" EXACT [MESH:D020274]
synonym: "nervous system immune disorders" EXACT [MESH:D020274]
synonym: "neurologic autoimmune disease" EXACT [MESH:D020274]
synonym: "neurologic autoimmune diseases" EXACT [MESH:D020274]
xref: DOID:438 {source="MONDO:equivalentTo"}
xref: MEDGEN:155946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020274 {source="DOID:438", source="MONDO:equivalentTo"}
xref: NCIT:C99383 {source="DOID:438", source="MONDO:equivalentTo"}
xref: UMLS:C0751871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155946"}
is_a: MONDO:0005071 {source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383/inferred"} ! nervous system disorder
is_a: MONDO:0007179 {source="DOID:438", source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383"} ! autoimmune disease
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0002978
name: orbit alveolar rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alveolar rhabdomyosarcoma of orbit" EXACT [NCIT:C6247]
synonym: "alveolar rhabdomyosarcoma of the orbit" EXACT [DOID:4384, NCIT:C6247]
xref: DOID:4384 {source="MONDO:equivalentTo"}
xref: MEDGEN:235408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6247 {source="MONDO:equivalentTo", source="DOID:4384"}
xref: UMLS:C1335126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235408"}
is_a: MONDO:0002580 {source="DOID:4384", source="NCIT:C6247"} ! orbit rhabdomyosarcoma

[Term]
id: MONDO:0002979
name: papillary squamous carcinoma
def: "A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "papillary epidermoid carcinoma" EXACT [DOID:4385, NCIT:C4102]
synonym: "papillary epidermoid cell carcinoma" EXACT [NCIT:C4102]
synonym: "papillary squamous carcinoma" EXACT [NCIT:C4102]
synonym: "papillary squamous cell carcinoma" EXACT [NCIT:C4102]
xref: DOID:4385 {source="MONDO:equivalentTo"}
xref: ICDO:8052/3 {source="NCIT:C4102"}
xref: MEDGEN:83115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4102 {source="MONDO:equivalentTo", source="DOID:4385"}
xref: SCTID:39056008 {source="DOID:4385"}
xref: UMLS:C0334244 {source="MEDGEN:83115", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:4385", source="MONDO:Redundant", source="NCIT:C4102"} ! squamous cell carcinoma
is_a: MONDO:0006509 {source="MONDO:Redundant", source="NCIT:C4102"} ! papillary carcinoma
intersection_of: MONDO:0005096 {source="NCIT:C4102"} ! squamous cell carcinoma
intersection_of: MONDO:0006509 {source="NCIT:C4102"} ! papillary carcinoma

[Term]
id: MONDO:0002980
name: obsolete myofibroma
is_obsolete: true
replaced_by: MONDO:0006312

[Term]
id: MONDO:0002981
name: peripheral primitive neuroectodermal tumor of bone
def: "A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain." [NCIT:C8776]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bone peripheral neuroepithelioma" EXACT [NCIT:C8776]
synonym: "bone tissue peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location]
synonym: "bone tissue peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "osseous peripheral neuroepithelioma" EXACT [DOID:4388, NCIT:C8776]
synonym: "peripheral neuroectodermal tumor of bone" EXACT [NCIT:C8776]
synonym: "peripheral neuroectodermal tumor of the bone" EXACT [NCIT:C8776]
synonym: "peripheral neuroectodermal tumour of bone" EXACT OMO:0003005 []
synonym: "peripheral neuroectodermal tumour of the bone" EXACT OMO:0003005 []
synonym: "peripheral neuroepithelioma of bone" EXACT [NCIT:C8776]
synonym: "peripheral neuroepithelioma of the bone" EXACT [NCIT:C8776]
synonym: "peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C8776]
synonym: "peripheral primitive neuroectodermal tumor of bone tissue" EXACT [MONDO:design_pattern]
synonym: "peripheral primitive neuroectodermal tumour of bone tissue" EXACT OMO:0003005 []
xref: DOID:4388 {source="MONDO:equivalentTo"}
xref: MEDGEN:163179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8776 {source="DOID:4388", source="MONDO:equivalentTo"}
xref: UMLS:C0855009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163179"}
is_a: MONDO:0018271 {source="MONDO:Redundant", source="NCIT:C8776"} ! peripheral primitive neuroectodermal tumor
is_a: MONDO:0021123 {source="MONDO:Redundant", source="NCIT:C8776"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
intersection_of: MONDO:0018271 ! peripheral primitive neuroectodermal tumor
intersection_of: disease_has_location UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0002982
name: peripheral primitive neuroectodermal tumor of soft tissues
def: "A small round cell tumor with neural differentiation arising from the soft tissues." [NCIT:C27471]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peripheral neuroectodermal tumor of soft tissues" EXACT [DOID:4389, NCIT:C27471]
synonym: "peripheral neuroectodermal tumor of the soft tissues" EXACT [NCIT:C27471]
synonym: "peripheral neuroectodermal tumour of soft tissues" EXACT OMO:0003005 []
synonym: "peripheral neuroectodermal tumour of the soft tissues" EXACT OMO:0003005 []
synonym: "peripheral neuroepithelioma of soft tissues" EXACT [NCIT:C27471]
synonym: "peripheral neuroepithelioma of the soft tissues" EXACT [NCIT:C27471]
synonym: "peripheral primitive neuroectodermal tumor of soft tissues" EXACT [NCIT:C27471]
synonym: "soft tissue peripheral neuroepithelioma" RELATED [DOID:4389]
xref: DOID:4389 {source="MONDO:equivalentTo"}
xref: MEDGEN:205115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27471 {source="DOID:4389", source="MONDO:equivalentTo"}
xref: UMLS:C1112437 {source="MEDGEN:205115", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018271 {source="NCIT:C27471"} ! peripheral primitive neuroectodermal tumor
is_a: MONDO:0021039 {source="NCIT:C27471"} ! extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor
relationship: excluded_subClassOf MONDO:0018270 {source="DOID:4389", source="https://orcid.org/0000-0001-5208-3432"} ! extraskeletal Ewing sarcoma

[Term]
id: MONDO:0002983
name: obsolete neuromuscular junction disease
is_obsolete: true
replaced_by: MONDO:0020124

[Term]
id: MONDO:0002984
name: reticulohistiocytic granuloma
def: "A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003" [NCIT:P378]
synonym: "reticulohistiocytic granuloma (morphologic abnormality)" EXACT [DOID:4394]
synonym: "Reticulohistiocytoma" EXACT [DOID:4394]
synonym: "solitary histiocytoma" RELATED [GARD:0012967]
synonym: "solitary Reticulohistiocytoma" EXACT [DOID:4394, NCIT:C3356]
synonym: "solitary reticulohistiocytoma" EXACT [DOID:4394]
synonym: "solitary reticulohistiocytosis" RELATED [GARD:0012967]
xref: DOID:4394 {source="MONDO:equivalentTo"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:48431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015616 {source="DOID:4394", source="MONDO:directSiblingOf"}
xref: NCIT:C3356 {source="MONDO:equivalentTo", source="DOID:4394"}
xref: SCTID:128741006 {source="DOID:4394"}
xref: SCTID:15960008 {source="DOID:4394"}
xref: SCTID:189097004 {source="DOID:4394"}
xref: SCTID:404162004 {source="MONDO:equivalentTo", source="DOID:4394"}
xref: UMLS:C0035290 {source="MEDGEN:48431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002637 {source="DOID:4394"} ! histiocytosis

[Term]
id: MONDO:0002985
name: obsolete pustulosis of palm and sole
is_obsolete: true
replaced_by: MONDO:0015597

[Term]
id: MONDO:0002986
name: obsolete neuromuscular disease
is_obsolete: true
replaced_by: MONDO:0019056

[Term]
id: MONDO:0002987
name: spongiotic dermatitis
def: "A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication." [NCIT:P378]
xref: DOID:4406 {source="MONDO:equivalentTo"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27037 {source="MONDO:equivalentTo", source="DOID:4406"}
xref: SCTID:23615008 {source="MONDO:equivalentTo", source="DOID:4406"}
xref: UMLS:C0262984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120468"}
is_a: MONDO:0002406 {source="DOID:4406", source="NCIT:C27037"} ! dermatitis

[Term]
id: MONDO:0002988
name: cervix melanoma
def: "An aggressive malignant tumor of melanocytic origin that arises from the cervix." [NCIT:P378]
synonym: "cervical melanoma" EXACT [NCIT:C40239]
synonym: "melanoma of the cervix" EXACT [NCIT:C40239]
synonym: "primary malignant melanoma of the cervix uteri" RELATED [GARD:0009664]
synonym: "primary malignant melanoma of the uterine cervix" RELATED [GARD:0009664]
xref: DOID:4413 {source="MONDO:equivalentTo"}
xref: MEDGEN:163764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40239 {source="DOID:4413", source="MONDO:equivalentTo"}
xref: UMLS:C0877611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163764"}
is_a: MONDO:0000544 {source="NCIT:C40239"} ! mucosal melanoma
is_a: MONDO:0002974 {source="DOID:4413", source="NCIT:C40239"} ! cervical cancer

[Term]
id: MONDO:0002989
name: benign fibrous histiocytoma
def: "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "benign fibrous histiocytoma" EXACT [NCIT:C3739]
synonym: "benign fibrous histiocytoma (morphologic abnormality)" EXACT [DOID:4415]
synonym: "fibrous histiocytoma" EXACT [DOID:4415, NCIT:C3739]
synonym: "fibrous histiocytoma NOS (morphologic abnormality)" EXACT [DOID:4415]
synonym: "fibroxanthoma" EXACT [DOID:4415]
synonym: "fibroxanthoma NOS (morphologic abnormality)" EXACT [DOID:4415]
synonym: "histiocytoma, fibrous, benign" EXACT [NCIT:C3739]
xref: DOID:4415 {source="MONDO:equivalentTo"}
xref: ICDO:8830/0 {source="NCIT:C3739"}
xref: MEDGEN:60199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018219 {source="DOID:4415", source="MONDO:equivalentTo"}
xref: NCIT:C3739 {source="DOID:4415", source="MONDO:equivalentTo"}
xref: SCTID:189769003 {source="DOID:4415"}
xref: SCTID:189770002 {source="DOID:4415"}
xref: SCTID:25889007 {source="DOID:4415"}
xref: UMLS:C0206644 {source="MEDGEN:60199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005509 {source="DOID:4415", source="MESH:D018219", source="NCIT:C3739"} ! histiocytoma

[Term]
id: MONDO:0002990
name: benign deep fibrous histiocytoma
def: "A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases." [NCIT:P378]
synonym: "benign deep fibrous histiocytoma" EXACT [NCIT:C6492]
synonym: "deep benign fibrous histiocytoma" EXACT [NCIT:C6492]
xref: DOID:4419 {source="MONDO:equivalentTo"}
xref: MEDGEN:690110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6492 {source="MONDO:equivalentTo", source="DOID:4419"}
xref: SCTID:128741006 {source="DOID:4419"}
xref: UMLS:C1266125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:690110"}
is_a: MONDO:0002989 {source="NCIT:C6492"} ! benign fibrous histiocytoma
relationship: excluded_subClassOf MONDO:0000630 {source="DOID:4419", source="https://orcid.org/0000-0001-5208-3432"} ! immune system organ benign neoplasm

[Term]
id: MONDO:0002991
name: adenocarcinofibroma
def: "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma." [NCIT:C40035]
synonym: "adenocarcinofibroma" EXACT [NCIT:C40035]
synonym: "adenofibroma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant adenofibroma" EXACT [NCIT:C40035]
xref: DOID:4422 {source="MONDO:equivalentTo"}
xref: MEDGEN:266966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40035 {source="DOID:4422", source="MONDO:equivalentTo"}
xref: UMLS:C1510778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266966"}
is_a: MONDO:0001416 {source="NCIT:C40035"} ! female reproductive organ cancer
is_a: MONDO:0005853 {source="DOID:4422/inferred", source="NCIT:C40035"} ! malignant mixed neoplasm

[Term]
id: MONDO:0002992
name: obsolete juvenile xanthogranuloma
is_obsolete: true
replaced_by: MONDO:0015534

[Term]
id: MONDO:0002993
name: pancreatic somatostatinoma
def: "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." [NCIT:C95595]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pancreatic delta cell somatostatin producing neoplasm" EXACT [DOID:4432]
synonym: "pancreatic somatostatin cell tumor" EXACT [DOID:4432, NCIT:C8006]
synonym: "pancreatic somatostatin cell tumour" EXACT OMO:0003005 []
xref: DOID:4432 {source="MONDO:equivalentTo"}
xref: MEDGEN:235079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8006 {source="DOID:4432"}
xref: NCIT:C95595 {source="DOID:4432", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1368041 {source="MEDGEN:235079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002994 {source="NCIT:C8006", source="NCIT:C95595/inferred"} ! pancreatic delta cell neuroendocrine tumor

[Term]
id: MONDO:0002994
name: pancreatic delta cell neuroendocrine tumor
def: "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning)." [NCIT:C28396]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pancreatic Delta cell neoplasm" EXACT [NCIT:C28396]
synonym: "pancreatic delta cell neoplasm" EXACT [DOID:4433]
synonym: "pancreatic Delta cell NET" EXACT [NCIT:C28396]
synonym: "pancreatic Delta cell neuroendocrine tumor" EXACT [NCIT:C28396]
synonym: "pancreatic Delta cell neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "pancreatic Delta cell tumor" EXACT [DOID:4433, NCIT:C28396]
synonym: "pancreatic Delta cell tumour" EXACT OMO:0003005 []
xref: DOID:4433 {source="MONDO:equivalentTo"}
xref: MEDGEN:233303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C28396 {source="DOID:4433", source="MONDO:equivalentTo"}
xref: UMLS:C1335301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233303"}
is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C28396/inferred"} ! epithelial neoplasm
is_a: MONDO:0019954 {source="MONDO:Redundant", source="NCIT:C28396"} ! pancreatic neuroendocrine tumor
intersection_of: MONDO:0019954 {source="NCIT:C28396"} ! pancreatic neuroendocrine tumor
intersection_of: disease_arises_from_structure CL:0000173 {source="NCIT:C28396"} ! pancreatic D cell

[Term]
id: MONDO:0002995
name: small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine." [NCIT:C96061]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid tumor of small intestine" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "carcinoid tumour of small intestine" RELATED OMO:0003005 []
synonym: "small intestinal NET" BROAD [NCIT:C96061]
synonym: "small intestinal neuroendocrine tumor" BROAD [NCIT:C96061]
synonym: "small intestinal neuroendocrine tumour" BROAD OMO:0003005 []
synonym: "small intestinal well differentiated endocrine tumor" BROAD [NCIT:C96061]
synonym: "small intestinal well differentiated endocrine tumor/carcinoma" NARROW [NCIT:C96061]
synonym: "small intestinal well differentiated endocrine tumour" BROAD OMO:0003005 []
synonym: "small intestine neuroendocrine tumor" BROAD [MONDO:patterns/location, NCIT:C5803]
synonym: "small intestine neuroendocrine tumour" BROAD OMO:0003005 []
xref: MEDGEN:474161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96061 {source="MONDO:equivalentTo"}
xref: UMLS:C3272528 {source="MEDGEN:474161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018510 {source="MONDO:Redundant", source="NCIT:C96061"} ! small intestine neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002108 ! small intestine
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0002996
name: cavernous sinus meningioma
def: "A meningioma that affects the cavernous sinus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cavernous sinus meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of cavernous sinus" EXACT []
synonym: "meningioma of cavernous sinus" EXACT [NCIT:C5268]
synonym: "meningioma of the cavernous sinus" EXACT [DOID:4435, NCIT:C5268]
xref: DOID:4435 {source="MONDO:equivalentTo"}
xref: MEDGEN:232034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5268 {source="DOID:4435", source="MONDO:equivalentTo"}
xref: UMLS:C1332865 {source="MEDGEN:232034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002785 {source="DOID:4435", source="MONDO:Redundant", source="NCIT:C5268"} ! skull base neoplasm
is_a: MONDO:0016642 {source="DOID:4435", source="MONDO:Redundant", source="NCIT:C5268/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0003712 ! cavernous sinus

[Term]
id: MONDO:0002997
name: anterior cranial fossa meningioma
def: "A meningioma that affects the anterior cranial fossa." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anterior cranial fossa meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "anterior fossa meningioma" EXACT [NCIT:C5286]
synonym: "meningioma (disease) of anterior cranial fossa" EXACT []
synonym: "meningioma of anterior cranial fossa" EXACT [NCIT:C5286]
synonym: "meningioma of anterior fossa" EXACT [NCIT:C5286]
synonym: "meningioma of the anterior cranial fossa" EXACT [NCIT:C5286]
synonym: "meningioma of the anterior fossa" EXACT [DOID:4436, NCIT:C5286]
xref: DOID:4436 {source="MONDO:equivalentTo"}
xref: MEDGEN:272315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5286 {source="MONDO:equivalentTo", source="DOID:4436"}
xref: UMLS:C1332301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272315"}
is_a: MONDO:0016642 {source="DOID:4436", source="MONDO:Redundant", source="NCIT:C5286/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0003720 ! anterior cranial fossa

[Term]
id: MONDO:0002998
name: skull base meningioma
def: "A meningioma that arises from the skull base." [NCIT:C5272]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basicranium meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of basicranium" EXACT []
synonym: "meningioma of skull base" RELATED [NCIT:C5272]
synonym: "meningioma of the skull base" EXACT [DOID:4437, NCIT:C5272]
synonym: "skull base meningioma" EXACT [NCIT:C5272]
xref: DOID:4437 {source="MONDO:equivalentTo"}
xref: MEDGEN:233449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5272 {source="DOID:4437", source="MONDO:equivalentTo"}
xref: UMLS:C1335976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233449"}
is_a: MONDO:0002785 {source="DOID:4437", source="MONDO:Redundant", source="NCIT:C5272"} ! skull base neoplasm
is_a: MONDO:0016642 {source="MONDO:Redundant", source="NCIT:C5272/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0002517 ! basicranium

[Term]
id: MONDO:0002999
name: central nervous system germinoma
def: "A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)" [NCIT:C7009]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "central nervous system germinoma" EXACT [NCIT:C7009]
synonym: "central nervous system germinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "germinoma of central nervous system" EXACT [NCIT:C7009]
synonym: "germinoma of CNS" EXACT [DOID:4438, NCIT:C7009]
synonym: "germinoma of the central nervous system" EXACT [MONDO:0019616, NCIT:C7009]
synonym: "germinoma of the CNS" EXACT [NCIT:C7009]
synonym: "intracranial germinoma" RELATED [Orphanet:91352]
xref: DOID:4438 {source="MONDO:equivalentTo"}
xref: MEDGEN:232242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7009 {source="MONDO:equivalentTo", source="DOID:4438"}
xref: UMLS:C1333813 {source="MEDGEN:232242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002598 {source="DOID:4438", source="MONDO:Entailed", source="NCIT:C7009"} ! germinoma
is_a: MONDO:0002714 {source="DOID:4438/inferred", source="MONDO:Redundant", source="NCIT:C7009/inferred"} ! central nervous system cancer
is_a: MONDO:0003000 {source="DOID:4438", source="MONDO:Redundant", source="NCIT:C7009/inferred"} ! central nervous system germ cell tumor
intersection_of: MONDO:0002598 ! germinoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003000
name: central nervous system germ cell tumor
def: "A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma." [NCIT:C5461]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system germ cell neoplasm" EXACT [NCIT:C5461]
synonym: "central nervous system germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C5461]
synonym: "central nervous system rare germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "central nervous system rare germ cell tumour" EXACT OMO:0003005 []
synonym: "CNS germ cell neoplasm" EXACT [NCIT:C5461]
synonym: "CNS germ cell tumor" EXACT [NCIT:C5461]
synonym: "CNS germ cell tumour" EXACT OMO:0003005 []
synonym: "germ cell neoplasm of central nervous system" EXACT [NCIT:C5461]
synonym: "germ cell neoplasm of CNS" EXACT [NCIT:C5461]
synonym: "germ cell neoplasm of the central nervous system" EXACT [NCIT:C5461]
synonym: "germ cell neoplasm of the CNS" EXACT [NCIT:C5461]
synonym: "germ cell tumor of central nervous system" EXACT [NCIT:C5461]
synonym: "germ cell tumor of CNS" EXACT [NCIT:C5461]
synonym: "germ cell tumor of the central nervous system" EXACT [NCIT:C5461]
synonym: "germ cell tumor of the CNS" EXACT [DOID:4439, NCIT:C5461]
synonym: "germ cell tumour of central nervous system" EXACT OMO:0003005 []
synonym: "germ cell tumour of CNS" EXACT OMO:0003005 []
synonym: "germ cell tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "germ cell tumour of the CNS" EXACT OMO:0003005 []
xref: DOID:4439 {source="MONDO:equivalentTo"}
xref: MEDGEN:232040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5461 {source="MONDO:equivalentTo", source="DOID:4439"}
xref: UMLS:C1332880 {source="MEDGEN:232040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C5461"} ! central nervous system neoplasm
is_a: MONDO:0018201 {source="NCIT:C5461"} ! extragonadal germ cell tumor
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003001
name: seminoma
def: "A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes." [NCIT:C9309]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "seminoma" EXACT [NCIT:C9309]
synonym: "seminoma, malignant" EXACT [NCIT:C9309]
synonym: "seminoma, pure" EXACT [DOID:4440, NCIT:C9309]
xref: DOID:4440 {source="MONDO:equivalentTo"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9061/3 {source="NCIT:C9309"}
xref: MEDGEN:11371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018239 {source="MONDO:equivalentTo", source="DOID:4440"}
xref: NCIT:C7328 {source="DOID:4440"}
xref: NCIT:C9309 {source="MONDO:equivalentTo", source="DOID:4440"}
xref: ONCOTREE:SEM {source="MONDO:equivalentTo"}
xref: SCTID:154532006 {source="DOID:4440"}
xref: SCTID:188228003 {source="DOID:4440"}
xref: SCTID:189840000 {source="DOID:4440"}
xref: SCTID:189841001 {source="DOID:4440"}
xref: SCTID:255107005 {source="DOID:4440"}
xref: SCTID:269603004 {source="DOID:4440"}
xref: SCTID:36741007 {source="DOID:4440"}
xref: SCTID:443675005 {source="MONDO:equivalentTo", source="DOID:4440"}
xref: UMLS:C0036631 {source="MONDO:equivalentTo", source="MEDGEN:11371", source="MONDO:MEDGEN"}
is_a: MONDO:0006290 {source="NCIT:C9309"} ! malignant germ cell tumor
is_a: MONDO:0020580 ! germinomatous germ cell tumor

[Term]
id: MONDO:0003002
name: dysgerminoma
def: "A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysgerminoma" EXACT [MONDO:ambiguous, NCIT:C2996]
synonym: "dysgerminoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "dysgerminoma, malignant" EXACT [NCIT:C2996]
xref: DOID:4441 {source="MONDO:equivalentTo"}
xref: HP:0100621 {source="MONDO:otherHierarchy"}
xref: ICDO:9060/3 {source="NCIT:C2996"}
xref: MEDGEN:41680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004407 {source="DOID:4441", source="MONDO:equivalentTo"}
xref: NANDO:2200066 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2996 {source="DOID:4441", source="MONDO:equivalentObsolete"}
xref: NCIT:C8106 {source="ONCOTREE:VDYS"}
xref: SCTID:60718004 {source="DOID:4441"}
xref: UMLS:C0013377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41680"}
is_a: MONDO:0006290 {source="NCIT:C2996"} ! malignant germ cell tumor
is_a: MONDO:0020580 ! germinomatous germ cell tumor
property_value: IAO:0000589 "dysgerminoma (disease)" xsd:string

[Term]
id: MONDO:0003003
name: cervical alveolar soft part sarcoma
def: "An alveolar soft part sarcoma arising from the cervix." [NCIT:C40225]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4442 {source="MONDO:equivalentTo"}
xref: MEDGEN:273905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40225 {source="DOID:4442", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1516408 {source="MEDGEN:273905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002974 {source="DOID:4442", source="NCIT:C40225/inferred"} ! cervical cancer
is_a: MONDO:0011655 {source="MONDO:Redundant", source="NCIT:C40225"} ! alveolar soft part sarcoma
intersection_of: MONDO:0011655 ! alveolar soft part sarcoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0003004
name: macular degeneration
def: "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "macula lutea retinal degeneration" EXACT [MONDO:patterns/location]
synonym: "macula retinal degeneration" EXACT [MONDO:patterns/location]
synonym: "macular degeneration of retina" EXACT [DOID:4448]
synonym: "retinal degeneration of macula lutea" EXACT [MONDO:design_pattern]
xref: DOID:4448 {source="MONDO:equivalentTo"}
xref: EFO:0009606 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:7434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008268 {source="DOID:4448", source="MONDO:equivalentTo"}
xref: MESH:D057135 {source="DOID:4448"}
xref: NCIT:C123330 {source="DOID:4448", source="MONDO:equivalentTo"}
xref: SCTID:302891003 {source="DOID:4448"}
xref: SCTID:422338006 {source="DOID:4448", source="MONDO:equivalentTo"}
xref: UMLS:C0024437 {source="MEDGEN:7434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="DOID:4448", source="MESH:D008268", source="MONDO:Redundant", source="NCIT:C123330"} ! retinal degeneration
intersection_of: MONDO:0004580 ! retinal degeneration
intersection_of: disease_has_location UBERON:0000053 ! macula lutea
relationship: disease_arises_from_feature MONDO:0004580 ! retinal degeneration

[Term]
id: MONDO:0003005
name: macular retinal edema
def: "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." [NCIT:C35468]
subset: otar {source="MONDO:OTAR"}
synonym: "edema, macular" RELATED [NCIT:C35468]
synonym: "macula lutea retinal edema" EXACT [MONDO:patterns/location]
synonym: "macula lutea retinal oedema" EXACT OMO:0003005 []
synonym: "macular edema" EXACT [DOID:4449, NCIT:C35468]
synonym: "macular oedema" EXACT OMO:0003005 []
synonym: "retinal edema of macula lutea" EXACT [MONDO:design_pattern]
synonym: "retinal oedema of macula lutea" EXACT OMO:0003005 []
xref: DOID:4449 {source="MONDO:equivalentTo"}
xref: MEDGEN:75732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008269 {source="DOID:4449"}
xref: NCIT:C35468 {source="MONDO:equivalentTo", source="DOID:4449"}
xref: SCTID:37231002 {source="MONDO:equivalentTo", source="DOID:4449"}
xref: UMLS:C0271051 {source="MEDGEN:75732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="MONDO:Redundant"} ! retinal degeneration
intersection_of: MONDO:0004037 ! retinal edema
intersection_of: disease_has_location UBERON:0000053 ! macula lutea

[Term]
id: MONDO:0003006
name: obsolete Bartter disease
is_obsolete: true
replaced_by: MONDO:0015231

[Term]
id: MONDO:0003007
name: childhood kidney cell carcinoma
def: "A renal cell carcinoma that occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood kidney cell carcinoma" EXACT [NCIT:C6568]
synonym: "childhood renal cell carcinoma" EXACT [NCIT:C6568]
synonym: "childhood renal cell carcinoma (disease)" EXACT []
synonym: "paediatric kidney cell carcinoma" EXACT OMO:0003005 []
synonym: "paediatric renal cell carcinoma" EXACT OMO:0003005 []
synonym: "paediatric renal cell carcinoma (disease)" EXACT OMO:0003005 []
synonym: "pediatric kidney cell carcinoma" EXACT [NCIT:C6568]
synonym: "pediatric renal cell carcinoma" EXACT [DOID:4454, NCIT:C6568]
synonym: "pediatric renal cell carcinoma (disease)" EXACT [MONDO:patterns/childhood]
synonym: "renal cell cancer" BROAD [NCIT:C6568]
synonym: "renal cell carcinoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
xref: DOID:4454 {source="MONDO:equivalentTo"}
xref: MEDGEN:232070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6568 {source="DOID:4454", source="MONDO:equivalentTo"}
xref: UMLS:C1333001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232070"}
is_a: MONDO:0005086 {source="DOID:4454", source="MONDO:0003007/inferred", source="MONDO:Redundant"} ! renal cell carcinoma
is_a: MONDO:0005549 {source="NCIT:C6568"} ! renal cell adenocarcinoma
intersection_of: MONDO:0005086 ! renal cell carcinoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003008
name: hereditary renal cell carcinoma
def: "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial renal carcinoma" RELATED [MESH:C536851]
synonym: "hereditary renal carcinoma" RELATED []
synonym: "hereditary renal cell cancer" EXACT [NCIT:C39789]
synonym: "hereditary renal cell carcinoma" EXACT [NCIT:C39789]
synonym: "hereditary renal cell carcinoma (disease)" EXACT [MONDO:patterns/hereditary]
xref: DOID:4455 {source="MONDO:equivalentTo"}
xref: MEDGEN:392857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536851 {source="MONDO:equivalentTo"}
xref: NCIT:C39789 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:717736007 {source="MONDO:equivalentTo"}
xref: UMLS:C2608055 {source="MEDGEN:392857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005086 {source="DOID:4455", source="MESH:C536851", source="MONDO:0003008/inferred", source="MONDO:Redundant"} ! renal cell carcinoma
is_a: MONDO:0005549 {source="NCIT:C39789"} ! renal cell adenocarcinoma
intersection_of: MONDO:0005086 ! renal cell carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma" xsd:anyURI {source="GARD:0009571"}

[Term]
id: MONDO:0003009
name: hyperaldosteronism
def: "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Cushing syndrome" RELATED EXCLUDE [DOID:446]
synonym: "Cushing's syndrome" RELATED EXCLUDE [DOID:446]
synonym: "primary hyperaldosteronism" RELATED [DOID:446]
xref: DOID:446 {source="MONDO:equivalentTo"}
xref: EFO:0009452 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E26 {source="DOID:446", source="MONDO:equivalentTo"}
xref: ICD10CM:E26.9 {source="DOID:446"}
xref: ICD9:255.1 {source="DOID:446", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:255.10 {source="DOID:446", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006929 {source="DOID:446", source="MONDO:equivalentTo"}
xref: NCIT:C113213 {source="DOID:446", source="MONDO:otherHierarchy"}
xref: Orphanet:235936 {source="DOID:446"}
xref: SCTID:154709005 {source="DOID:446"}
xref: SCTID:190506003 {source="DOID:446"}
xref: SCTID:190509005 {source="DOID:446"}
xref: SCTID:267484005 {source="DOID:446"}
xref: SCTID:88213004 {source="DOID:446", source="MONDO:equivalentTo"}
xref: UMLS:C0020428 {source="MEDGEN:6960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006640 {source="DOID:446", source="MESH:D006929"} ! adrenal gland hyperfunction

[Term]
id: MONDO:0003010
name: multilocular clear cell renal cell carcinoma
def: "A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells." [NCIT:C4524]
subset: gard_rare {source="GARD:21417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:319287"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:319287"}
subset: rare
synonym: "cystadenocarcinoma of kidney" EXACT [DOID:4463]
synonym: "MCRCC" EXACT ABBREVIATION [Orphanet:319287]
synonym: "multilocular clear cell adenocarcinoma" EXACT [Orphanet:319287]
synonym: "multilocular clear cell carcinoma" EXACT [Orphanet:319287]
synonym: "multilocular clear cell renal cell adenocarcinoma" EXACT [Orphanet:319287]
synonym: "multilocular clear cell renal cell carcinoma" EXACT [NCIT:C4524, Orphanet:319287]
synonym: "multilocular cystic clear cell renal cell neoplasm of low malignant potential" EXACT [MONDO:0017883]
synonym: "multilocular cystic renal cell adenocarcinoma" EXACT [Orphanet:319287]
synonym: "multilocular cystic renal cell cancer" EXACT [NCIT:C4524]
synonym: "multilocular cystic renal cell carcinoma" EXACT [NCIT:C4524, Orphanet:319287]
synonym: "multilocular cystic renal neoplasm of low malignant potential" RELATED [Orphanet:319287]
synonym: "renal cystadenocarcinoma" EXACT [DOID:4463, NCIT:C4524]
xref: DOID:4463 {source="MONDO:equivalentTo"}
xref: GARD:21417 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:319287", source="Orphanet:319287/ntbt"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8316/3 {source="NCIT:C4524"}
xref: MEDGEN:87547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4524 {source="DOID:4463", source="MONDO:equivalentTo"}
xref: Orphanet:319287 {source="MONDO:equivalentTo"}
xref: SCTID:254916002 {source="DOID:4463", source="MONDO:equivalentTo"}
xref: UMLS:C0346249 {source="MEDGEN:87547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005004 {source="MONDO:0003010/inferred", source="MONDO:Redundant", source="NCIT:C4524"} ! clear cell adenocarcinoma
is_a: MONDO:0005549 {source="MONDO:0003010/inferred", source="MONDO:Redundant", source="NCIT:C4524"} ! renal cell adenocarcinoma

[Term]
id: MONDO:0003011
name: mucinous tubular and spindle renal cell carcinoma
def: "A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain." [NCIT:C39807]
subset: gard_rare {source="GARD:21418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319322"}
subset: orphanet_rare {source="Orphanet:319322"}
subset: rare
synonym: "carcinoma, renal, tubular, malignant" EXACT [NCIT:C39807]
synonym: "mucinous tubular and spindle cell carcinoma of the kidney" EXACT [NCIT:C39807]
synonym: "mucinous tubular and spindle cell renal carcinoma" EXACT [MONDO:0017889]
synonym: "renal mucinous tubular spindle cell carcinoma" RELATED [ONCOTREE:MTSCC]
xref: DOID:4472 {source="MONDO:equivalentTo"}
xref: GARD:21418 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:319322/ntbt", source="Orphanet:319322"}
xref: ICDO:0000/0 {source="NCIT:C39807"}
xref: MEDGEN:1640204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39807 {source="MONDO:equivalentTo", source="DOID:4472"}
xref: ONCOTREE:MTSCC {source="MONDO:equivalentTo"}
xref: Orphanet:319322 {source="MONDO:equivalentTo"}
xref: SCTID:764990003 {source="MONDO:equivalentTo"}
xref: UMLS:C4707257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640204"}
is_a: MONDO:0005086 {source="DOID:4472", source="ONCOTREE:MTSCC/inferred", source="Orphanet:319322"} ! renal cell carcinoma
is_a: MONDO:0005206 {source="DOID:4472/inferred", source="MONDO:0003011/inferred", source="MONDO:Redundant", source="NCIT:C39807"} ! renal carcinoma
relationship: disease_arises_from_structure UBERON:0004810 {source="NCIT:C39807"} ! nephron tubule epithelium
relationship: disease_has_location UBERON:0001231 {source="NCIT:C39807"} ! nephron tubule

[Term]
id: MONDO:0003012
name: sarcomatoid renal cell carcinoma
def: "A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade." [NCIT:C27893]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RCC w/ sarcomatoid features" EXACT [NCIT:C27893]
synonym: "renal cell carcinoma with sarcomatoid features" EXACT [NCIT:C27893]
synonym: "renal cell carcinoma, spindle cell" EXACT [DOID:4473]
synonym: "sarcomatoid renal cell cancer" EXACT [NCIT:C27893]
synonym: "sarcomatoid renal cell carcinoma" EXACT [NCIT:C27893]
synonym: "SRCC" RELATED ABBREVIATION [ONCOTREE:SRCC]
xref: DOID:4473 {source="MONDO:equivalentTo"}
xref: ICDO:8318/3 {source="NCIT:C27893"}
xref: MEDGEN:220411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002292 {source="DOID:4473"}
xref: NCIT:C27893 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4473"}
xref: ONCOTREE:SRCC {source="MONDO:equivalentTo"}
xref: SCTID:128668003 {source="DOID:4473"}
xref: UMLS:C1266043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220411"}
is_a: MONDO:0005086 {source="DOID:4473", source="MONDO:0003012/inferred", source="MONDO:Redundant", source="ONCOTREE:SRCC/inferred"} ! renal cell carcinoma
is_a: MONDO:0005549 {source="NCIT:C27893"} ! renal cell adenocarcinoma
is_a: MONDO:0006406 {source="NCIT:C27893"} ! sarcomatoid carcinoma

[Term]
id: MONDO:0003013
name: obsolete pseudohypoaldosteronism
is_obsolete: true
replaced_by: MONDO:0018638

[Term]
id: MONDO:0003014
name: rhinitis
def: "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge." [NCIT:C34986]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of nasal cavity mucosa" EXACT []
synonym: "nasal cavity mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "runny nose" RELATED [DOID:4483]
xref: DOID:4483 {source="MONDO:equivalentTo"}
xref: EFO:0008521 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J30 {source="MONDO:equivalentTo"}
xref: MEDGEN:19782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012220 {source="MONDO:equivalentTo", source="DOID:4483"}
xref: NCIT:C34986 {source="MONDO:equivalentTo", source="DOID:4483"}
xref: SCTID:70076002 {source="MONDO:equivalentTo", source="DOID:4483"}
xref: UMLS:C0035455 {source="MEDGEN:19782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002232 {source="DOID:4483", source="NCIT:C34986/inferred"} ! nasal cavity disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001826 ! nasal cavity mucosa
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache

[Term]
id: MONDO:0003015
name: obsolete malignant biphasic mesothelioma
is_obsolete: true
replaced_by: MONDO:0006109

[Term]
id: MONDO:0003016
name: obsolete sarcomatoid mesothelioma
is_obsolete: true
replaced_by: MONDO:0006407

[Term]
id: MONDO:0003017
name: malignant peritoneal solitary fibrous tumor
def: "A malignant form of peritoneal solitary fibrous tumor." [MONDO:patterns/malignant]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peritoneal solitary fibrous tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "pleural and peritoneal solitary fibrous tumor" EXACT [DOID:4490, NCIT:C6893]
synonym: "pleural and peritoneal solitary fibrous tumour" EXACT OMO:0003005 []
xref: DOID:4490 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0037737 ! peritoneal solitary fibrous tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003018
name: obsolete myotonic disease
is_obsolete: true
replaced_by: MONDO:0016107

[Term]
id: MONDO:0003019
name: potassium deficiency disease
def: "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." [NCIT:P378]
comment: Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT
subset: otar {source="MONDO:OTAR"}
synonym: "hypokalemia" EXACT [MONDO:ambiguous]
synonym: "hypopotassemia" RELATED [DOID:4500]
synonym: "potassium deficiency disorder" RELATED [DOID:4500]
xref: DOID:4500 {source="MONDO:equivalentTo"}
xref: HP:0002900 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E87.6 {source="MONDO:equivalentTo"}
xref: ICD9:276.8 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:271346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007008 {source="DOID:4500", source="MONDO:equivalentTo"}
xref: NCIT:C34939 {source="DOID:4500", source="MONDO:equivalentTo"}
xref: NCIT:C37974 {source="MONDO:otherHierarchy"}
xref: SCTID:43339004 {source="MONDO:equivalentTo"}
xref: UMLS:C1514284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271346"}
is_a: MONDO:0000226 {source="DOID:4500"} ! mineral metabolism disease
is_a: MONDO:0005137 {source="NCIT:C34939"} ! nutritional disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_feature HP:0002900 ! Hypokalemia

[Term]
id: MONDO:0003020
name: obsolete orofaciodigital syndrome
is_obsolete: true
replaced_by: MONDO:0015375

[Term]
id: MONDO:0003021
name: central nervous system angiosarcoma
def: "A malignant vascular neoplasm arising from the brain, spinal cord or meninges." [NCIT:C5450]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiosarcoma (disease) of central nervous system" EXACT []
synonym: "angiosarcoma of central nervous system" EXACT [NCIT:C5450]
synonym: "angiosarcoma of CNS" EXACT [NCIT:C5450]
synonym: "angiosarcoma of the central nervous system" EXACT [NCIT:C5450]
synonym: "angiosarcoma of the CNS" EXACT [NCIT:C5450]
synonym: "central nervous system angiosarcoma" EXACT [NCIT:C5450]
synonym: "central nervous system angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "central nervous system hemangiosarcoma" EXACT [NCIT:C5450]
synonym: "CNS angiosarcoma" EXACT [NCIT:C5450]
synonym: "CNS hemangiosarcoma" EXACT [NCIT:C5450]
synonym: "hemangiosarcoma of central nervous system" EXACT [NCIT:C5450]
synonym: "hemangiosarcoma of CNS" EXACT [NCIT:C5450]
synonym: "hemangiosarcoma of the central nervous system" EXACT [NCIT:C5450]
synonym: "hemangiosarcoma of the CNS" EXACT [DOID:4504, NCIT:C5450]
xref: DOID:4504 {source="MONDO:equivalentTo"}
xref: MEDGEN:272441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5450 {source="MONDO:equivalentTo", source="DOID:4504", source="MONDO:exact-label-match"}
xref: UMLS:C1332875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272441"}
is_a: MONDO:0002217 {source="DOID:4504", source="MONDO:Redundant", source="NCIT:C5450"} ! central nervous system sarcoma
is_a: MONDO:0016982 {source="DOID:4504", source="MONDO:Redundant", source="NCIT:C5450/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003022
name: pediatric angiosarcoma
def: "An angiosarcoma occurring in childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiosarcoma" BROAD [NCIT:C9174]
synonym: "angiosarcoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "childhood angiosarcoma" EXACT [NCIT:C9174]
synonym: "childhood angiosarcoma (disease)" EXACT []
synonym: "childhood hemangiosarcoma" EXACT [NCIT:C9174]
synonym: "paediatric angiosarcoma (disease)" EXACT OMO:0003005 []
synonym: "paediatric hemangiosarcoma" EXACT OMO:0003005 []
synonym: "pediatric angiosarcoma" EXACT [NCIT:C9174]
synonym: "pediatric angiosarcoma (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric hemangiosarcoma" EXACT [DOID:4505, NCIT:C9174]
xref: DOID:4505 {source="MONDO:equivalentTo"}
xref: MEDGEN:124687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9174 {source="MONDO:equivalentTo", source="DOID:4505"}
xref: UMLS:C0279988 {source="MEDGEN:124687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016982 {source="DOID:4505", source="MONDO:Redundant", source="NCIT:C9174"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003023
name: aorta angiosarcoma
def: "A malignant vascular neoplasm arising from the aorta." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiosarcoma (disease) of aorta" EXACT []
synonym: "angiosarcoma of aorta" EXACT [NCIT:C5376]
synonym: "angiosarcoma of the aorta" EXACT [NCIT:C5376]
synonym: "aorta angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "aortic angiosarcoma" EXACT [NCIT:C5376]
synonym: "aortic hemangiosarcoma" EXACT [DOID:4510, NCIT:C5376]
synonym: "hemangiosarcoma of aorta" EXACT [NCIT:C5376]
synonym: "hemangiosarcoma of the aorta" EXACT [NCIT:C5376]
xref: DOID:4510 {source="MONDO:equivalentTo"}
xref: MEDGEN:231071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5376 {source="DOID:4510", source="MONDO:equivalentTo"}
xref: UMLS:C1332312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231071"}
is_a: MONDO:0016982 {source="DOID:4510", source="MONDO:Redundant", source="NCIT:C5376/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0000947 ! aorta

[Term]
id: MONDO:0003024
name: breast angiosarcoma
def: "A malignant vascular neoplasm arising from the breast." [NCIT:C5184]
subset: gard_rare {source="GARD:9974", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "angiosarcoma (disease) of breast" EXACT []
synonym: "angiosarcoma of breast" EXACT [NCIT:C5184]
synonym: "angiosarcoma of the breast" EXACT [NCIT:C5184]
synonym: "BA" RELATED ABBREVIATION [ONCOTREE:BA]
synonym: "breast angiosarcoma" EXACT [NCIT:C5184]
synonym: "breast angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "breast hemangiosarcoma" EXACT [NCIT:C5184]
synonym: "hemangiosarcoma of breast" EXACT [NCIT:C5184]
synonym: "hemangiosarcoma of the breast" EXACT [DOID:4511, NCIT:C5184]
xref: DOID:4511 {source="MONDO:equivalentTo"}
xref: GARD:9974 {source="MONDO:GARD"}
xref: MEDGEN:272382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536368 {source="DOID:4511", source="MONDO:equivalentTo"}
xref: NCIT:C5184 {source="DOID:4511", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:BA {source="MONDO:equivalentTo"}
xref: UMLS:C1332614 {source="MEDGEN:272382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002490 {source="DOID:4511", source="MONDO:Redundant", source="NCIT:C5184", source="ONCOTREE:BA"} ! breast sarcoma
is_a: MONDO:0016982 {source="DOID:4511", source="MESH:C536368", source="MONDO:Redundant", source="NCIT:C5184/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0000310 ! breast
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9974/angiosarcoma-of-the-breast" xsd:anyURI {source="GARD:0009974"}

[Term]
id: MONDO:0003025
name: conventional angiosarcoma
def: "An angiosarcoma characterized by the presence of malignant spindle endothelial cells." [NCIT:C9426]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "conventional angiosarcoma" EXACT [NCIT:C9426]
xref: DOID:4512 {source="MONDO:equivalentTo"}
xref: MEDGEN:234174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9426 {source="DOID:4512", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333155 {source="MEDGEN:234174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016982 {source="DOID:4512", source="NCIT:C9426"} ! angiosarcoma

[Term]
id: MONDO:0003026
name: gallbladder angiosarcoma
def: "An angiosarcoma that is located in the gallbladder." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiosarcoma (disease) of gall bladder" EXACT []
synonym: "angiosarcoma of gallbladder" EXACT [NCIT:C5840]
synonym: "angiosarcoma of the gallbladder" EXACT [NCIT:C5840]
synonym: "gall bladder angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "gallbladder angiosarcoma" EXACT [NCIT:C5840]
synonym: "gallbladder hemangiosarcoma" EXACT [NCIT:C5840]
synonym: "hemangiosarcoma of gallbladder" EXACT [DOID:4513, NCIT:C5840]
synonym: "hemangiosarcoma of the gallbladder" EXACT [NCIT:C5840]
xref: DOID:4513 {source="MONDO:equivalentTo"}
xref: MEDGEN:232222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5840 {source="MONDO:equivalentTo", source="DOID:4513", source="MONDO:exact-label-match"}
xref: UMLS:C1333742 {source="MONDO:equivalentTo", source="MEDGEN:232222", source="MONDO:MEDGEN"}
is_a: MONDO:0002857 {source="DOID:4513", source="MONDO:Redundant", source="NCIT:C5840"} ! gallbladder sarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0003027
name: thyroid gland angiosarcoma
def: "A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter." [NCIT:C6043]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiosarcoma (disease) of thyroid gland" EXACT []
synonym: "angiosarcoma of the thyroid" EXACT [NCIT:C6043]
synonym: "angiosarcoma of the thyroid gland" EXACT [NCIT:C6043]
synonym: "angiosarcoma of thyroid" EXACT [NCIT:C6043]
synonym: "angiosarcoma of thyroid gland" EXACT [NCIT:C6043]
synonym: "hemangiosarcoma of the thyroid" EXACT [DOID:4514, NCIT:C6043]
synonym: "hemangiosarcoma of the thyroid gland" EXACT [NCIT:C6043]
synonym: "hemangiosarcoma of thyroid" EXACT [NCIT:C6043]
synonym: "hemangiosarcoma of thyroid gland" EXACT [NCIT:C6043]
synonym: "thyroid angiosarcoma" EXACT [NCIT:C6043]
synonym: "thyroid gland angiosarcoma" EXACT [NCIT:C6043]
synonym: "thyroid gland angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "thyroid gland hemangiosarcoma" EXACT [NCIT:C6043]
synonym: "thyroid gland malignant hemangioendothelioma" EXACT [NCIT:C6043]
synonym: "thyroid hemangiosarcoma" EXACT [NCIT:C6043]
xref: DOID:4514 {source="MONDO:equivalentTo"}
xref: MEDGEN:277819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6043 {source="DOID:4514", source="MONDO:equivalentTo"}
xref: UMLS:C1336748 {source="MEDGEN:277819", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003028 {source="DOID:4514", source="MONDO:Redundant", source="NCIT:C6043"} ! thyroid sarcoma
is_a: MONDO:0016982 {source="DOID:4514", source="MONDO:Redundant", source="NCIT:C6043/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland
relationship: disease_has_feature HP:0000853 ! Goiter

[Term]
id: MONDO:0003028
name: thyroid sarcoma
def: "A malignant soft tissue neoplasm primarily involving the thyroid gland." [NCIT:C6041]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sarcoma of the thyroid" EXACT [NCIT:C6041]
synonym: "sarcoma of the thyroid gland" EXACT [DOID:4515, NCIT:C6041]
synonym: "sarcoma of thyroid" EXACT [NCIT:C6041]
synonym: "sarcoma of thyroid gland" EXACT [MONDO:patterns/sarcoma, NCIT:C6041]
synonym: "thyroid gland sarcoma" EXACT [MONDO:patterns/location, NCIT:C6041]
synonym: "thyroid sarcoma" EXACT [NCIT:C6041]
xref: DOID:4515 {source="MONDO:equivalentTo"}
xref: MEDGEN:234950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6041 {source="MONDO:equivalentTo", source="DOID:4515"}
xref: UMLS:C1336756 {source="MONDO:equivalentTo", source="MEDGEN:234950", source="MONDO:MEDGEN"}
is_a: MONDO:0002108 {source="DOID:4515", source="MONDO:Redundant", source="NCIT:C6041"} ! thyroid cancer
is_a: MONDO:0005089 {source="DOID:4515", source="MONDO:Entailed", source="NCIT:C6041/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C6041"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0003029
name: skin angiosarcoma
def: "A malignant vascular neoplasm arising from the skin." [NCIT:C4489]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "angiosarcoma (disease) of zone of skin" EXACT []
synonym: "angiosarcoma of skin" EXACT [NCIT:C4489]
synonym: "angiosarcoma of the skin" EXACT [NCIT:C4489]
synonym: "hemangiosarcoma of skin" EXACT [NCIT:C4489]
synonym: "hemangiosarcoma of the skin" EXACT [DOID:4517, NCIT:C4489]
synonym: "skin angiosarcoma" EXACT [NCIT:C4489]
synonym: "skin hemangiosarcoma" EXACT [NCIT:C4489]
synonym: "zone of skin angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4517 {source="MONDO:equivalentTo"}
xref: MEDGEN:87535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4489 {source="MONDO:equivalentTo", source="DOID:4517", source="MONDO:exact-label-match"}
xref: SCTID:254794007 {source="MONDO:equivalentTo", source="DOID:4517"}
xref: UMLS:C0346081 {source="MEDGEN:87535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006414 {source="DOID:4517", source="MONDO:Redundant", source="NCIT:C4489"} ! skin sarcoma
is_a: MONDO:0016982 {source="DOID:4517", source="MONDO:Redundant", source="NCIT:C4489"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0003030
name: endometrioid stromal sarcoma of the cervix
def: "A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." [NCIT:C40220]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical endometrial stromal sarcoma" RELATED [DOID:4520]
synonym: "endometrial stromal sarcoma of the cervix" EXACT [DOID:4520]
synonym: "endometrioid stromal sarcoma of the cervix" EXACT [NCIT:C40220]
synonym: "endometrioid stromal sarcoma of uterine cervix" EXACT [MONDO:design_pattern]
synonym: "uterine cervix endometrioid stromal sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:4520 {source="MONDO:equivalentTo"}
xref: MEDGEN:770966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40220 {source="DOID:4520", source="MONDO:equivalentTo"}
xref: UMLS:C3642326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:770966"}
is_a: MONDO:0003031 {source="DOID:4520"} ! endometrioid stromal and related neoplasms of the cervix
intersection_of: MONDO:0006745 ! endometrioid stromal sarcoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0003031
name: endometrioid stromal and related neoplasms of the cervix
def: "A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." [NCIT:C40218]
synonym: "cervix endometrial stromal tumor" RELATED [DOID:4521]
synonym: "cervix endometrial stromal tumour" RELATED OMO:0003005 []
synonym: "endometrioid stromal and related neoplasms of the cervix" EXACT [NCIT:C40218]
synonym: "endometrioid stromal and related tumors of the cervix" EXACT [NCIT:C40218]
synonym: "endometrioid stromal and related tumours of the cervix" EXACT OMO:0003005 []
xref: DOID:4521 {source="MONDO:equivalentTo"}
xref: MEDGEN:927118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40218 {source="DOID:4521", source="MONDO:equivalentTo"}
xref: UMLS:C4289586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927118"}
is_a: MONDO:0021148 {source="NCIT:C40218/inferred"} ! female reproductive system neoplasm
relationship: excluded_subClassOf MONDO:0002974 {source="DOID:4521", source="https://orcid.org/0000-0001-5208-3432"} ! cervical cancer

[Term]
id: MONDO:0003032
name: superior vena cava angiosarcoma
def: "A malignant vascular neoplasm arising from the superior vena cava." [NCIT:C5378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiosarcoma (disease) of anterior vena cava" EXACT []
synonym: "angiosarcoma of Superior vena cava" EXACT [NCIT:C5378]
synonym: "angiosarcoma of the Superior vena cava" EXACT [DOID:4522, NCIT:C5378]
synonym: "anterior vena cava angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4522 {source="MONDO:equivalentTo"}
xref: MEDGEN:234373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5378 {source="DOID:4522", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336530 {source="MEDGEN:234373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004634 {source="DOID:4522", source="MONDO:Entailed", source="MONDO:Redundant"} ! vein disorder
is_a: MONDO:0016982 {source="DOID:4522", source="MONDO:Redundant", source="NCIT:C5378/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0001585 ! anterior vena cava

[Term]
id: MONDO:0003033
name: prostate angiosarcoma
def: "A malignant vascular neoplasm arising from the prostate." [NCIT:C5528]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "angiosarcoma (disease) of prostate gland" EXACT []
synonym: "angiosarcoma of prostate" EXACT [NCIT:C5528]
synonym: "angiosarcoma of the prostate" EXACT [NCIT:C5528]
synonym: "hemangiosarcoma of prostate" EXACT [NCIT:C5528]
synonym: "hemangiosarcoma of the prostate" EXACT [NCIT:C5528]
synonym: "prostate angiosarcoma" EXACT [NCIT:C5528]
synonym: "prostate gland angiosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "prostate hemangiosarcoma" EXACT [NCIT:C5528]
synonym: "prostatic angiosarcoma" EXACT [NCIT:C5528]
synonym: "prostatic hemangiosarcoma" EXACT [DOID:4524, NCIT:C5528]
xref: DOID:4524 {source="MONDO:equivalentTo"}
xref: MEDGEN:235498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5528 {source="MONDO:equivalentTo", source="DOID:4524", source="MONDO:exact-label-match"}
xref: UMLS:C1335504 {source="MEDGEN:235498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002854 {source="DOID:4524", source="MONDO:Redundant", source="NCIT:C5528"} ! prostate sarcoma
is_a: MONDO:0016982 {source="DOID:4524", source="MONDO:Redundant", source="NCIT:C5528/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0003034
name: mediastinum angiosarcoma
def: "A malignant vascular neoplasm arising from the mediastinum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiosarcoma (disease) of mediastinum" EXACT []
synonym: "angiosarcoma of mediastinum" EXACT [NCIT:C6613]
synonym: "angiosarcoma of the mediastinum" EXACT [NCIT:C6613]
synonym: "hemangiosarcoma of mediastinum" EXACT [DOID:4525, NCIT:C6613]
synonym: "hemangiosarcoma of the mediastinum" EXACT [NCIT:C6613]
synonym: "mediastinal angiosarcoma" EXACT [NCIT:C6613]
synonym: "mediastinal hemangiosarcoma" EXACT [NCIT:C6613]
synonym: "mediastinum angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4525 {source="MONDO:equivalentTo"}
xref: MEDGEN:233676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6613 {source="DOID:4525", source="MONDO:equivalentTo"}
xref: UMLS:C1334649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233676"}
is_a: MONDO:0002852 {source="DOID:4525", source="MONDO:Redundant", source="NCIT:C6613"} ! mediastinum sarcoma
is_a: MONDO:0016982 {source="DOID:4525", source="MONDO:Redundant", source="NCIT:C6613/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0003035
name: ovarian angiosarcoma
def: "A malignant vascular neoplasm arising from the ovary." [NCIT:C5232]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiosarcoma (disease) of ovary" EXACT []
synonym: "angiosarcoma of ovary" EXACT [NCIT:C5232]
synonym: "angiosarcoma of the ovary" EXACT [NCIT:C5232]
synonym: "hemangiosarcoma of ovary" EXACT [DOID:4527, NCIT:C5232]
synonym: "hemangiosarcoma of the ovary" EXACT [NCIT:C5232]
synonym: "ovarian hemangiosarcoma" EXACT [NCIT:C5232]
synonym: "ovary angiosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4527 {source="MONDO:equivalentTo"}
xref: MEDGEN:233805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5232 {source="MONDO:equivalentTo", source="DOID:4527", source="MONDO:exact-label-match"}
xref: UMLS:C1335152 {source="MEDGEN:233805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002225 {source="DOID:4527", source="MONDO:Redundant", source="NCIT:C5232"} ! ovarian sarcoma
is_a: MONDO:0016982 {source="DOID:4527", source="MONDO:Redundant", source="NCIT:C5232/inferred"} ! angiosarcoma
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003036
name: mucoepidermoid carcinoma
def: "A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade." [NCIT:C3772]
comment: Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes
subset: gard_rare {source="GARD:10671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEC" EXACT ABBREVIATION [DOID:4531, NCIT:C3772]
synonym: "MUCC" RELATED ABBREVIATION [ONCOTREE:MUCC]
synonym: "mucoepidermoid carcinoma" EXACT [NCIT:C3772]
synonym: "mucoepidermoid carcinoma (morphologic abnormality)" EXACT [DOID:4531]
synonym: "mucoepidermoid tumor" EXACT [EFO:1001049, MESH:D018298]
synonym: "mucoepidermoid tumors" RELATED [MESH:D018298]
synonym: "mucoepidermoid tumour" EXACT OMO:0003005 []
synonym: "mucoepidermoid tumours" RELATED OMO:0003005 []
synonym: "tumor, mucoepidermoid" RELATED [MESH:D018298]
synonym: "tumors, mucoepidermoid" RELATED [MESH:D018298]
xref: DOID:163 {source="MONDO:equivalentObsolete", source="EFO:1001049"}
xref: DOID:4531 {source="MONDO:equivalentTo"}
xref: GARD:10671 {source="MONDO:GARD"}
xref: ICDO:8430/1 {source="NCIT:C3772"}
xref: ICDO:8430/3 {source="NCIT:C3772"}
xref: MEDGEN:61662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018277 {source="DOID:4531", source="MONDO:equivalentTo"}
xref: MESH:D018298 {source="MONDO:equivalentTo", source="EFO:1001049"}
xref: NCIT:C3772 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:MUCC {source="MONDO:equivalentTo"}
xref: SCTID:39892006 {source="EFO:1001049"}
xref: SCTID:4079000 {source="DOID:4531"}
xref: UMLS:C0206694 {source="MEDGEN:61662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="EFO:1001049"} ! adenocarcinoma
is_a: MONDO:0006720 {source="MESH:D018298"} ! cystic, mucinous, and serous neoplasm
is_a: MONDO:0020596 {source="NCIT:C3772"} ! mucin-producing carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma" xsd:anyURI {source="GARD:0010671"}

[Term]
id: MONDO:0003037
name: hypotrichosis
def: "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4535 {source="MONDO:equivalentTo"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007039 {source="MONDO:equivalentTo", source="DOID:4535"}
xref: NCIT:C34720 {source="MONDO:equivalentTo", source="DOID:4535"}
xref: OMIMPS:605389 {source="MONDO:equivalentTo", source="DOID:4535"}
xref: Orphanet:55654 {source="DOID:4535"}
xref: SCTID:53602002 {source="MONDO:equivalentTo", source="DOID:4535"}
xref: SCTID:56558005 {source="DOID:4535"}
xref: UMLS:C0020678 {source="MEDGEN:6993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002917 {source="DOID:4535", source="MESH:D007039", source="NCIT:C34720/inferred"} ! disorder of pilosebaceous unit
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:605389"} ! inherited

[Term]
id: MONDO:0003038
name: dysgraphia
def: "Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)" [MESH:D000381]
synonym: "dysgraphia" EXACT [MONDO:ambiguous]
synonym: "dysgraphia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:4540 {source="MONDO:equivalentTo"}
xref: HP:0010526 {source="MONDO:otherHierarchy"}
xref: ICD10CM:R48.8 {source="DOID:4540"}
xref: MEDGEN:115942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000381 {source="DOID:4540"}
xref: NCIT:C182452 {source="MONDO:equivalentTo"}
xref: SCTID:158321001 {source="DOID:4540"}
xref: SCTID:206990000 {source="DOID:4540"}
xref: SCTID:27206009 {source="DOID:4540"}
xref: UMLS:C0234144 {source="MEDGEN:115942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000599 {source="DOID:4540"} ! writing disorder
property_value: IAO:0000589 "dysgraphia (disease)" xsd:string

[Term]
id: MONDO:0003039
name: nominal aphasia
def: "Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people." [NCIT:P378]
synonym: "anomia" EXACT [DOID:4541]
synonym: "anomic aphasia" EXACT [DOID:4541]
synonym: "anomic aphasia (finding)" EXACT [DOID:4541]
xref: DOID:4541 {source="MONDO:equivalentTo"}
xref: MEDGEN:312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000849 {source="DOID:4541", source="MONDO:equivalentTo"}
xref: NCIT:C34386 {source="DOID:4541", source="MONDO:otherHierarchy"}
xref: SCTID:10325006 {source="DOID:4541"}
xref: UMLS:C0003113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:312"}
is_a: MONDO:0000598 {source="DOID:4541"} ! aphasia

[Term]
id: MONDO:0003040
name: retrograde amnesia
def: "The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected." [NCIT:P378]
xref: DOID:4543 {source="MONDO:equivalentTo"}
xref: ICD10CM:R41.2 {source="DOID:4543", source="MONDO:equivalentTo"}
xref: MEDGEN:264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000648 {source="DOID:4543", source="MONDO:equivalentTo"}
xref: NCIT:C34372 {source="DOID:4543", source="MONDO:otherHierarchy"}
xref: SCTID:158178004 {source="DOID:4543"}
xref: SCTID:206784007 {source="DOID:4543"}
xref: SCTID:51921000 {source="DOID:4543"}
xref: UMLS:C0002624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:264"}
is_a: MONDO:0001152 {source="DOID:4543"} ! amnestic disorder

[Term]
id: MONDO:0003041
name: pediatric mesenchymal chondrosarcoma
def: "A mesenchymal chondrosarcoma occurring in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood mesenchymal chondrosarcoma" EXACT [NCIT:C27374]
synonym: "mesenchymal chondrosarcoma" BROAD [NCIT:C27374]
synonym: "mesenchymal chondrosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mesenchymal chondrosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27374]
xref: DOID:4546 {source="MONDO:equivalentTo"}
xref: MEDGEN:232063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27374 {source="MONDO:equivalentTo", source="DOID:4546"}
xref: UMLS:C1332982 {source="MEDGEN:232063", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006853 {source="DOID:4546", source="MONDO:Redundant", source="NCIT:C27374"} ! mesenchymal chondrosarcoma
intersection_of: MONDO:0006853 ! mesenchymal chondrosarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003042
name: adult mesenchymal chondrosarcoma
def: "A mesenchymal chondrosarcoma occurring in adults." [NCIT:C27375]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult mesenchymal chondrosarcoma" EXACT [NCIT:C27375]
synonym: "mesenchymal chondrosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:4547 {source="MONDO:equivalentTo"}
xref: MEDGEN:272296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27375 {source="DOID:4547", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332207 {source="MEDGEN:272296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006853 {source="DOID:4547", source="MONDO:Redundant", source="NCIT:C27375"} ! mesenchymal chondrosarcoma
intersection_of: MONDO:0006853 ! mesenchymal chondrosarcoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003043
name: obsolete extraskeletal mesenchymal chondrosarcoma
def: "OBSOLETE. A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage." [NCIT:P378]
comment: Obsolete in NCIT.
synonym: "mesenchymal extraosseous chondrosarcoma" EXACT [DOID:4548, NCIT:C27481]
synonym: "mesenchymal extraskeletal chondrosarcoma" EXACT [NCIT:C27481]
xref: DOID:4548 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NCIT:C27481 {source="MONDO:obsoleteEquivalent", source="DOID:4548"}
xref: SCTID:404080006 {source="MONDO:obsoleteEquivalent", source="DOID:4548"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/388" xsd:anyURI
is_obsolete: true
consider: MONDO:0012825

[Term]
id: MONDO:0003044
name: obsolete extraosseous chondrosarcoma
def: "OBSOLETE. A chondrosarcoma that is located in exclusively soft tissue." [DOID:4549, PMID:16084955]
comment: NCIt recommended obsoletion.
xref: DOID:4549 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/388" xsd:anyURI
is_obsolete: true
consider: MONDO:0012825

[Term]
id: MONDO:0003045
name: anal gland neoplasm
def: "Tumors or cancer of the anal gland." [MESH:D000694]
synonym: "gland of anal canal neoplasm" EXACT []
synonym: "gland of anal canal neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "gland of anal canal tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "gland of anal canal tumour" EXACT OMO:0003005 []
synonym: "neoplasm of gland of anal canal" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of gland of anal canal" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of gland of anal canal" EXACT OMO:0003005 []
xref: DOID:4550 {source="MONDO:equivalentTo"}
xref: MEDGEN:1897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000694 {source="MONDO:equivalentTo", source="DOID:4550"}
xref: UMLS:C0002757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1897"}
is_a: MONDO:0003046 {source="DOID:4550", source="EFO:1000804", source="MESH:D000694"} ! anus neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0004760 ! gland of anal canal

[Term]
id: MONDO:0003046
name: anus neoplasm
def: "A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "anal neoplasm" EXACT [DOID:4551, NCIT:C2877]
synonym: "anal neoplasms, benign and malignant" EXACT [NCIT:C2877]
synonym: "anal tumor" EXACT [NCIT:C2877]
synonym: "anal tumors" EXACT [DOID:4551, NCIT:C2877]
synonym: "anal tumour" EXACT OMO:0003005 []
synonym: "anal tumours" EXACT OMO:0003005 []
synonym: "anus neoplasm" EXACT [NCIT:C2877]
synonym: "anus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "anus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "anus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of anus" EXACT [DOID:4551, MONDO:patterns/neoplasm, NCIT:C2877]
synonym: "neoplasm of the anus" EXACT [NCIT:C2877]
synonym: "tumor of anus" EXACT [MONDO:patterns/neoplasm, NCIT:C2877]
synonym: "tumor of the anus" EXACT [NCIT:C2877]
synonym: "tumour of anus" EXACT OMO:0003005 []
synonym: "tumour of the anus" EXACT OMO:0003005 []
xref: DOID:4551 {source="MONDO:equivalentTo"}
xref: EFO:0003835 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001005 {source="DOID:4551", source="MONDO:equivalentTo"}
xref: NCIT:C2877 {source="DOID:4551", source="MONDO:equivalentTo"}
xref: SCTID:126849006 {source="DOID:4551", source="MONDO:equivalentTo"}
xref: UMLS:C0003463 {source="MONDO:equivalentTo", source="MEDGEN:360", source="MONDO:MEDGEN"}
is_a: MONDO:0002165 {source="MESH:D001005", source="MONDO:Redundant"} ! rectal neoplasm
is_a: MONDO:0002519 {source="MESH:D001005", source="MONDO:Redundant", source="NCIT:C2877"} ! anus disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0003047
name: thymic large cell neuroendocrine carcinoma
def: "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis." [NCIT:C6461]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "large cell carcinoma of the Thymus" EXACT [DOID:4553, NCIT:C6461]
synonym: "large cell neuroendocrine carcinoma of the Thymus" EXACT [NCIT:C6461]
synonym: "large cell neuroendocrine carcinoma of Thymus" EXACT [NCIT:C6461]
synonym: "large cell neuroendocrine carcinoma of thymus" EXACT []
synonym: "thymic large cell neuroendocrine carcinoma" EXACT [NCIT:C6461]
synonym: "thymic LCNEC" EXACT [NCIT:C6461]
synonym: "Thymus large cell carcinoma" EXACT [NCIT:C6461]
synonym: "thymus large cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "thymus large cell neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:4553 {source="MONDO:equivalentTo"}
xref: MEDGEN:235250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6461 {source="DOID:4553", source="MONDO:equivalentTo"}
xref: UMLS:C1334364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235250"}
is_a: MONDO:0005057 {source="MONDO:Redundant", source="NCIT:C6461"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005232 {source="DOID:4553", source="MONDO:Entailed", source="NCIT:C6461/inferred"} ! large cell carcinoma
is_a: MONDO:0006451 {source="DOID:4553", source="MONDO:0003047/inferred", source="MONDO:Entailed", source="NCIT:C6461"} ! thymic carcinoma
intersection_of: MONDO:0005057 ! large cell neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0003048
name: obsolete type C thymoma
is_obsolete: true
replaced_by: MONDO:0006451

[Term]
id: MONDO:0003049
name: ovarian large-cell neuroendocrine carcinoma
def: "A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "large cell neuroendocrine carcinoma of ovary" EXACT [NCIT:C5238]
synonym: "large cell neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238]
synonym: "large-cell neuroendocrine carcinoma of ovary" EXACT [NCIT:C5238]
synonym: "large-cell neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238]
synonym: "non-small-cell type neuroendocrine carcinoma of ovary" EXACT [DOID:4555, NCIT:C5238]
synonym: "non-small-cell type neuroendocrine carcinoma of the ovary" EXACT [NCIT:C5238]
synonym: "ovarian large cell NEC" EXACT [NCIT:C5238]
synonym: "ovarian large cell neuroendocrine carcinoma" EXACT [NCIT:C5238]
synonym: "ovarian non-small-cell type neuroendocrine carcinoma" EXACT [NCIT:C5238]
synonym: "ovary large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4555 {source="MONDO:equivalentTo"}
xref: MEDGEN:233809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5238 {source="DOID:4555", source="MONDO:equivalentTo"}
xref: UMLS:C1335174 {source="MEDGEN:233809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002120 {source="MONDO:0003049/inferred", source="MONDO:Redundant", source="NCIT:C5238/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! neuroendocrine carcinoma
is_a: MONDO:0005057 {source="MONDO:Redundant", source="NCIT:C5238"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005140 {source="DOID:4555", source="MONDO:Redundant", source="NCIT:C5238"} ! ovarian carcinoma
intersection_of: MONDO:0005057 ! large cell neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003050
name: lung large cell carcinoma
alt_id: MONDO:0006024
def: "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection." [NCIT:C4450]
subset: otar {source="MONDO:OTAR"}
synonym: "anaplastic lung carcinoma" EXACT [NCIT:C4450]
synonym: "large cell carcinoma of lung" EXACT [NCIT:C4450]
synonym: "large cell carcinoma of the lung" EXACT [NCIT:C4450]
synonym: "large cell lung cancer" EXACT [NCIT:C4450]
synonym: "large cell lung carcinoma" EXACT [DOID:4556, NCIT:C4450]
synonym: "large cell undifferentiated lung carcinoma" EXACT [NCIT:C4450]
synonym: "LCLC" RELATED ABBREVIATION [ONCOTREE:LCLC]
synonym: "lung large cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4556 {source="MONDO:equivalentTo"}
xref: EFO:0003050 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4450 {source="DOID:4556", source="MONDO:equivalentTo", source="EFO:1000016"}
xref: ONCOTREE:LCLC {source="MONDO:equivalentTo"}
xref: SCTID:254629004 {source="DOID:4556", source="MONDO:equivalentTo"}
xref: UMLS:C0345958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91060"}
is_a: MONDO:0005232 {source="DOID:4556", source="MONDO:Redundant", source="NCIT:C4450"} ! large cell carcinoma
is_a: MONDO:0005233 {source="DOID:4556", source="EFO:1000016", source="NCIT:C4450", source="ONCOTREE:LCLC"} ! non-small cell lung carcinoma
intersection_of: MONDO:0005232 ! large cell carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003051
name: non specific chronic endometritis
def: "Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present." [NCIT:C27625]
synonym: "non specific chronic endometritis" EXACT [NCIT:C27625]
xref: DOID:4560 {source="MONDO:equivalentTo"}
xref: MEDGEN:235394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27625 {source="MONDO:equivalentTo", source="DOID:4560"}
xref: UMLS:C1335061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235394"}
is_a: MONDO:0000918 {source="DOID:4560", source="MONDO:Redundant", source="NCIT:C27625/inferred"} ! endometritis
is_a: MONDO:0024279 {source="NCIT:C27625"} ! chronic endometritis

[Term]
id: MONDO:0003052
name: granulomatous endometritis
def: "Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis." [NCIT:C27626]
synonym: "granulomatous endometritis" EXACT [NCIT:C27626]
xref: DOID:4561 {source="MONDO:equivalentTo"}
xref: MEDGEN:234322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27626 {source="MONDO:equivalentTo", source="DOID:4561"}
xref: UMLS:C1333876 {source="MEDGEN:234322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000918 {source="DOID:4561", source="MONDO:Redundant", source="NCIT:C27626/inferred"} ! endometritis
is_a: MONDO:0024279 {source="NCIT:C27626"} ! chronic endometritis

[Term]
id: MONDO:0003053
name: choroid plexus meningioma
def: "A meningioma that affects the choroid plexus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "choroid meningioma (morphologic abnormality)" EXACT [DOID:4584]
synonym: "choroid plexus meningioma" EXACT [NCIT:C4719]
synonym: "choroid plexus meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of choroid plexus" EXACT []
synonym: "meningioma of choroid plexus" RELATED [NCIT:C4719]
synonym: "meningioma of the choroid plexus" EXACT [DOID:4584, NCIT:C4719]
xref: DOID:4584 {source="MONDO:equivalentTo"}
xref: MEDGEN:98458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4719 {source="DOID:4584", source="MONDO:equivalentTo"}
xref: SCTID:253082002 {source="DOID:4584"}
xref: UMLS:C0431118 {source="MEDGEN:98458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0001886 ! choroid plexus

[Term]
id: MONDO:0003054
name: benign meningioma
def: "A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection." [NCIT:C4055]
subset: inferred_rare
subset: rare
synonym: "benign meningioma (WHO grade I)" EXACT [NCIT:C4055]
synonym: "meningioma (disease), benign" EXACT [MONDO:patterns/benign]
synonym: "meningioma, benign" EXACT [DOID:4587, NCIT:C4055]
xref: DOID:4587 {source="MONDO:equivalentTo"}
xref: MEDGEN:129095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:4587"}
xref: NCIT:C4055 {source="DOID:4587", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:724171006 {source="MONDO:equivalentTo"}
xref: UMLS:C0281784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:129095"}
is_a: MONDO:0000628 {source="DOID:4587", source="MONDO:Redundant", source="MONDO:indirect"} ! central nervous system organ benign neoplasm
is_a: MONDO:0016642 {source="MONDO:Redundant", source="NCIT:C4055/inferred"} ! meningioma
is_a: MONDO:0021527 {source="MONDO:Redundant", source="NCIT:C4055"} ! benign neoplasm of meninges
intersection_of: MONDO:0016642 ! meningioma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0003055
name: secretory meningioma
def: "A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." [NCIT:C4718]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "secretory meningioma" EXACT [DOID:4588, NCIT:C4718]
synonym: "secretory meningioma (morphologic abnormality)" EXACT [DOID:4588]
xref: DOID:4588 {source="MONDO:equivalentTo"}
xref: MEDGEN:277998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:4588"}
xref: NCIT:C4718 {source="DOID:4588", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:19453003 {source="DOID:4588"}
xref: SCTID:253081009 {source="DOID:4588"}
xref: UMLS:C1384406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277998"}
is_a: MONDO:0016642 {source="DOID:4588", source="EFO:1000522", source="NCIT:C4718/inferred"} ! meningioma

[Term]
id: MONDO:0003056
name: lymphoplasmacyte-rich meningioma
def: "A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." [NCIT:C4720]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoplasmacyte-rich meningioma" EXACT [DOID:4591, NCIT:C4720]
synonym: "lymphoplasmocyte-rich meningioma" EXACT [DOID:4591]
synonym: "lymphoplasmocyte-rich meningioma (morphologic abnormality)" EXACT [DOID:4591]
xref: DOID:4591 {source="MONDO:equivalentTo"}
xref: MEDGEN:140907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4720 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4591"}
xref: SCTID:19453003 {source="DOID:4591"}
xref: SCTID:253083007 {source="DOID:4591"}
xref: UMLS:C0431119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140907"}
is_a: MONDO:0016642 {source="DOID:4591", source="EFO:1000342", source="NCIT:C4720/inferred"} ! meningioma

[Term]
id: MONDO:0003057
name: pediatric meningioma
def: "A meningioma that occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood meningioma" EXACT [NCIT:C8264]
synonym: "childhood meningioma (disease)" EXACT []
synonym: "meningioma" BROAD [NCIT:C8264]
synonym: "meningioma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "paediatric meningioma (disease)" EXACT OMO:0003005 []
synonym: "pediatric meningioma" EXACT [NCIT:C8264]
synonym: "pediatric meningioma (disease)" EXACT [MONDO:patterns/childhood]
xref: DOID:4593 {source="MONDO:equivalentTo"}
xref: MEDGEN:79156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200094 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8264 {source="MONDO:equivalentTo", source="DOID:4593"}
xref: UMLS:C0280656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79156"}
is_a: MONDO:0016642 {source="DOID:4593", source="MONDO:Redundant", source="NCIT:C8264"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003058
name: microcystic meningioma
def: "A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." [NCIT:C4721]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "microcystic meningioma" EXACT [DOID:4594, NCIT:C4721]
synonym: "microcystic meningioma (morphologic abnormality)" EXACT [DOID:4594]
xref: DOID:4594 {source="MONDO:equivalentTo"}
xref: MEDGEN:234616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:4594"}
xref: NCIT:C4721 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4594"}
xref: SCTID:19453003 {source="DOID:4594"}
xref: SCTID:253084001 {source="DOID:4594"}
xref: UMLS:C1384408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234616"}
is_a: MONDO:0016642 {source="DOID:4594", source="EFO:1000376", source="NCIT:C4721/inferred"} ! meningioma

[Term]
id: MONDO:0003059
name: bile duct cancer
def: "A malignant neoplasm involving the bile duct" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bile duct cancer" EXACT [MONDO:patterns/location]
synonym: "bile duct tumor" BROAD [DOID:4606, NCIT:C2898]
synonym: "bile duct tumour" BROAD OMO:0003005 []
synonym: "Ca extrahepatic bile ducts" EXACT [DOID:4606]
synonym: "cancer of bile duct" EXACT [MONDO:patterns/cancer]
synonym: "malignant bile duct neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of bile duct" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the extrahepatic bile duct" NARROW [DOID:4606, NCIT:C7483]
xref: DOID:4606 {source="MONDO:equivalentTo"}
xref: ICD10CM:C24.0 {source="DOID:4606"}
xref: ICD9:156.1 {source="MONDO:relatedTo", source="DOID:4606"}
xref: MESH:D001650 {source="DOID:4606"}
xref: NCIT:C2898 {source="DOID:4606", source="MONDO:directSiblingOf"}
xref: NCIT:C7483 {source="MONDO:relatedTo", source="DOID:4606"}
xref: SCTID:154473009 {source="DOID:4606"}
xref: SCTID:187787007 {source="DOID:4606"}
xref: SCTID:363416002 {source="MONDO:relatedTo", source="DOID:4606"}
xref: SCTID:93790004 {source="DOID:4606"}
is_a: MONDO:0002887 {source="DOID:4606", source="MONDO:Redundant", source="MONDO:indirect"} ! bile duct disorder
is_a: MONDO:0003060 {source="DOID:4606", source="MONDO:Entailed", source="MONDO:Redundant"} ! biliary tract cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0003060
name: biliary tract cancer
def: "A malignant neoplasm involving the biliary tree" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:5924", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "biliary tree cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of biliary tree" EXACT [MONDO:patterns/cancer]
synonym: "malignant biliary tree neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of biliary tree" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of biliary tract" EXACT [DOID:4607]
synonym: "malignant tumour of biliary tract" EXACT OMO:0003005 []
xref: DOID:4607 {source="MONDO:equivalentTo"}
xref: GARD:5924 {source="MONDO:GARD"}
xref: ICD10CM:C24.9 {source="DOID:4607"}
xref: ICD9:156.9 {source="DOID:4607"}
xref: MEDGEN:155474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001661 {source="DOID:4607"}
xref: SCTID:126853008 {source="MONDO:relatedTo", source="DOID:4607"}
xref: SCTID:363415003 {source="DOID:4607"}
xref: SCTID:93688006 {source="DOID:4607"}
xref: UMLS:C0750952 {source="MEDGEN:155474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002516 {source="DOID:4607", source="MONDO:Redundant", source="MONDO:indirect"} ! digestive system cancer
is_a: MONDO:0004868 {source="DOID:4607", source="MONDO:Redundant", source="MONDO:indirect"} ! biliary tract disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001173 ! biliary tree
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer" xsd:anyURI {source="GARD:0005924"}

[Term]
id: MONDO:0003061
name: benign muscle neoplasm
alt_id: MONDO:0002393
def: "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue." [NCIT:C4882]
subset: otar {source="MONDO:OTAR"}
synonym: "benign muscle neoplasm" EXACT [NCIT:C4882]
synonym: "benign muscle tumor" EXACT [NCIT:C4882]
synonym: "benign muscle tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of muscle" EXACT [NCIT:C4882]
synonym: "benign neoplasm of the muscle" EXACT [NCIT:C4882]
synonym: "benign tumor of muscle" EXACT [NCIT:C4882]
synonym: "benign tumor of the muscle" EXACT [NCIT:C4882]
synonym: "benign tumour of muscle" EXACT OMO:0003005 []
synonym: "benign tumour of the muscle" EXACT OMO:0003005 []
synonym: "muscle benign neoplasm" RELATED [DOID:461]
synonym: "muscle neoplasm" BROAD [DOID:461]
synonym: "muscle tissue neoplasm" EXACT [DOID:461]
synonym: "myoma" EXACT [NCIT:C4882]
synonym: "myomatous neoplasm" RELATED EXCLUDE [DOID:461]
synonym: "myomatous tumor" BROAD [DOID:461, NCIT:C4063]
synonym: "myomatous tumour" BROAD OMO:0003005 []
synonym: "neoplasm of muscle" RELATED EXCLUDE [DOID:461]
xref: DOID:2691 {source="MONDO:equivalentTo"}
xref: DOID:461 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: ICD10CM:D21 {source="DOID:2691"}
xref: ICDO:8895/0 {source="NCIT:C4882"}
xref: MEDGEN:10236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009214 {source="MONDO:equivalentTo", source="DOID:2691"}
xref: MESH:D009379 {source="DOID:461"}
xref: MESH:D019042 {source="DOID:461"}
xref: NCIT:C4063 {source="DOID:461"}
xref: NCIT:C4882 {source="MONDO:equivalentTo", source="DOID:2691"}
xref: SCTID:115228006 {source="DOID:461"}
xref: SCTID:126616000 {source="DOID:461"}
xref: SCTID:134329004 {source="DOID:461"}
xref: SCTID:189786009 {source="DOID:461"}
xref: SCTID:189801005 {source="DOID:461"}
xref: SCTID:66357004 {source="DOID:2691"}
xref: SCTID:92237006 {source="DOID:2691"}
xref: UMLS:C0027086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10236"}
is_a: MONDO:0000636 {source="DOID:2691/inferred", source="DOID:461"} ! musculoskeletal system benign neoplasm
is_a: MONDO:0021545 {source="MESH:D009214", source="MONDO:Redundant", source="NCIT:C4882"} ! myomatous neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_arises_from_structure CL:0000187 ! muscle cell

[Term]
id: MONDO:0003062
name: intestinal benign neoplasm
def: "A benign neoplasm that involves the intestine." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign intestinal neoplasm" EXACT [NCIT:C4609]
synonym: "benign intestinal neoplasms" EXACT [NCIT:C4609]
synonym: "benign intestinal tumor" EXACT [NCIT:C4609]
synonym: "benign intestinal tumors" EXACT [NCIT:C4609]
synonym: "benign intestinal tumour" EXACT OMO:0003005 []
synonym: "benign intestinal tumours" EXACT OMO:0003005 []
synonym: "benign intestine neoplasm" EXACT [NCIT:C4609]
synonym: "benign intestine tumor" EXACT [NCIT:C4609]
synonym: "benign intestine tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of intestines" EXACT [NCIT:C4609]
synonym: "benign neoplasm of the intestines" EXACT [NCIT:C4609]
synonym: "benign neoplasms of large and/or small intestine" EXACT [NCIT:C4609]
synonym: "benign neoplasms of the large and/or small intestine" EXACT [NCIT:C4609]
synonym: "benign tumor of intestines" EXACT [NCIT:C4609]
synonym: "benign tumor of the intestines" EXACT [NCIT:C4609]
synonym: "benign tumour of intestines" EXACT OMO:0003005 []
synonym: "benign tumour of the intestines" EXACT OMO:0003005 []
synonym: "intestinal neoplasms, benign" EXACT [NCIT:C4609]
synonym: "intestinal tumors, benign" EXACT [NCIT:C4609]
synonym: "intestine benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:91124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4609 {source="MONDO:equivalentTo"}
xref: SCTID:92151003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347269 {source="MEDGEN:91124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="DOID:4610", source="MONDO:Redundant", source="NCIT:C4609"} ! benign digestive system neoplasm
is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C4609"} ! intestinal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0003063
name: obsolete hydranencephaly
is_obsolete: true
replaced_by: MONDO:0016344

[Term]
id: MONDO:0003064
name: inverted transitional cell papilloma
def: "A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern." [NCIT:C4118]
subset: otar {source="MONDO:OTAR"}
synonym: "inverted transitional cell papilloma" EXACT [NCIT:C4118]
synonym: "inverted transitional papilloma" EXACT [NCIT:C4118]
synonym: "transitional papilloma, inverted" EXACT [DOID:4630]
xref: DOID:4630 {source="MONDO:equivalentTo"}
xref: ICDO:8121/1 {source="NCIT:C4118"}
xref: MEDGEN:1790412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4118 {source="DOID:4630", source="MONDO:equivalentTo"}
xref: SCTID:46580000 {source="DOID:4630"}
xref: UMLS:C5551359 {source="MEDGEN:1790412", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002537 {source="DOID:4630", source="MONDO:Redundant", source="NCIT:C4118"} ! inverted papilloma
is_a: MONDO:0005605 {source="DOID:4630", source="MONDO:Redundant", source="NCIT:C4118"} ! transitional cell papilloma
intersection_of: MONDO:0002537 {source="NCIT:C4118"} ! inverted papilloma
intersection_of: MONDO:0005605 {source="NCIT:C4118"} ! transitional cell papilloma

[Term]
id: MONDO:0003065
name: nasal cavity inverting papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas." [NCIT:P378]
synonym: "inverting papilloma of nasal cavity" EXACT [NCIT:C8194]
synonym: "inverting papilloma of the nasal cavity" EXACT [DOID:4633, NCIT:C8194]
synonym: "nasal cavity inverted papilloma" EXACT [NCIT:C8194]
synonym: "nasal cavity Schneiderian papilloma, inverted type" EXACT [NCIT:C8194]
xref: DOID:4633 {source="MONDO:equivalentTo"}
xref: MEDGEN:79106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8194 {source="DOID:4633", source="MONDO:equivalentTo"}
xref: UMLS:C0280336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79106"}
is_a: MONDO:0004756 {source="DOID:4633", source="NCIT:C8194/inferred"} ! nasal cavity neoplasm

[Term]
id: MONDO:0003066
name: submandibular adenitis
def: "Inflammation of the submandibular lymph nodes." [NCIT:P378]
synonym: "lymphadenitis (disease) of submandibular gland" EXACT []
synonym: "submandibular gland lymphadenitis (disease)" EXACT [MONDO:patterns/location]
synonym: "submandibular lymphadenitis" EXACT [DOID:4636, NCIT:C27016]
xref: DOID:4636 {source="MONDO:equivalentTo"}
xref: MEDGEN:66723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27016 {source="MONDO:equivalentTo", source="DOID:4636"}
xref: SCTID:15170009 {source="MONDO:equivalentTo", source="DOID:4636"}
xref: UMLS:C0235591 {source="MEDGEN:66723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003067 {source="DOID:4636"} ! cervical lymphadenitis
intersection_of: MONDO:0002052 ! lymphadenitis
intersection_of: disease_has_location UBERON:0001736 ! submandibular gland

[Term]
id: MONDO:0003067
name: cervical lymphadenitis
def: "Inflammation of the cervical lymph nodes." [NCIT:P378]
synonym: "cervical adenitis" EXACT [DOID:4637]
synonym: "lymphadenitis (disease) of neck" EXACT []
synonym: "neck lymphadenitis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4637 {source="MONDO:equivalentTo"}
xref: MEDGEN:101763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26937 {source="MONDO:equivalentTo", source="DOID:4637"}
xref: SCTID:3502005 {source="MONDO:equivalentTo", source="DOID:4637"}
xref: UMLS:C0149642 {source="MEDGEN:101763", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002052 {source="DOID:4637", source="MONDO:Redundant", source="NCIT:C26937"} ! lymphadenitis
intersection_of: MONDO:0002052 ! lymphadenitis
intersection_of: disease_has_location UBERON:0000974 ! neck

[Term]
id: MONDO:0003068
name: postauricular lymphadenitis
def: "Inflammation of the postauricular lymph nodes." [NCIT:P378]
synonym: "lymphadenitis (disease) of mastoid lymph node" EXACT []
synonym: "mastoid lymph node lymphadenitis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4638 {source="MONDO:equivalentTo"}
xref: MEDGEN:183076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27332 {source="MONDO:equivalentTo", source="DOID:4638"}
xref: UMLS:C0919638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:183076"}
is_a: MONDO:0002052 {source="DOID:4638", source="MONDO:Redundant", source="NCIT:C27332"} ! lymphadenitis
intersection_of: MONDO:0002052 ! lymphadenitis
intersection_of: disease_has_location UBERON:0016392 ! mastoid lymph node

[Term]
id: MONDO:0003069
name: suppurative lymphadenitis
def: "A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria." [NCIT:P378]
synonym: "suppurative lymphadenopathy" EXACT [DOID:4639]
xref: DOID:4639 {source="MONDO:equivalentTo"}
xref: ICD9:457.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27135 {source="MONDO:equivalentTo", source="DOID:4639"}
xref: SCTID:48573006 {source="MONDO:equivalentTo", source="DOID:4639"}
xref: UMLS:C0392051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140258"}
is_a: MONDO:0002052 {source="DOID:4639", source="NCIT:C27135"} ! lymphadenitis

[Term]
id: MONDO:0003070
name: axillary lymphadenitis
def: "An infection of the lymph nodes in the axilla." [NCIT:C27333]
synonym: "axilla lymphadenitis (disease)" EXACT [MONDO:patterns/location]
synonym: "axillary adenitis" RELATED [NCIT:C27333]
synonym: "axillary lymphadenitis" EXACT [NCIT:C27333]
synonym: "lymphadenitis (disease) of axilla" EXACT []
xref: DOID:4640 {source="MONDO:equivalentTo"}
xref: MEDGEN:182522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27333 {source="DOID:4640", source="NCIT:C27333", source="MONDO:equivalentTo"}
xref: UMLS:C0919797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:182522"}
is_a: MONDO:0002052 {source="DOID:4640", source="MONDO:Redundant", source="NCIT:C27333"} ! lymphadenitis
intersection_of: MONDO:0002052 ! lymphadenitis
intersection_of: disease_has_location UBERON:0009472 ! axilla

[Term]
id: MONDO:0003071
name: obsolete epidermolysis bullosa simplex
is_obsolete: true
replaced_by: MONDO:0017610

[Term]
id: MONDO:0003072
name: retinal cancer
def: "A malignant neoplasm involving the retina." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of retina" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of retina" EXACT [DOID:4645, MONDO:patterns/cancer, NCIT:C3216]
synonym: "malignant neoplasm of the retina" EXACT [NCIT:C3216]
synonym: "malignant retina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3216]
synonym: "malignant retina tumor" EXACT [NCIT:C3216]
synonym: "malignant retina tumour" EXACT OMO:0003005 []
synonym: "malignant retinal neoplasm" EXACT [DOID:4645, NCIT:C3216]
synonym: "malignant retinal tumor" EXACT [NCIT:C3216]
synonym: "malignant retinal tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of retina" EXACT [NCIT:C3216]
synonym: "malignant tumor of the retina" EXACT [NCIT:C3216]
synonym: "malignant tumour of retina" EXACT OMO:0003005 []
synonym: "malignant tumour of the retina" EXACT OMO:0003005 []
synonym: "neoplasm of retina" BROAD EXCLUDE [DOID:4645]
synonym: "retina cancer" EXACT [MONDO:patterns/location]
synonym: "retinal tumor" BROAD [DOID:4645, NCIT:C4800]
synonym: "retinal tumour" BROAD OMO:0003005 []
xref: DOID:4645 {source="MONDO:equivalentTo"}
xref: EFO:0005716 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C69.2 {source="DOID:4645"}
xref: ICD9:190.5 {source="MONDO:equivalentTo", source="DOID:4645", source="MONDO:i2s"}
xref: MEDGEN:6192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019572 {source="MONDO:equivalentTo", source="DOID:4645"}
xref: NCIT:C3216 {source="MONDO:equivalentTo", source="DOID:4645"}
xref: NCIT:C4800 {source="DOID:4645"}
xref: SCTID:127002001 {source="DOID:4645"}
xref: SCTID:363465007 {source="MONDO:equivalentTo", source="DOID:4645"}
xref: SCTID:93987004 {source="DOID:4645"}
xref: UMLS:C0024622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6192"}
is_a: MONDO:0002236 {source="DOID:4645", source="MESH:D019572", source="MONDO:Redundant", source="NCIT:C3216"} ! ocular cancer
is_a: MONDO:0005283 {source="DOID:4645", source="MESH:D019572", source="MONDO:Redundant"} ! retinal disorder
is_a: MONDO:0021231 {source="MONDO:Redundant", source="NCIT:C3216"} ! retina neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0003073
name: trilateral retinoblastoma
def: "Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999)." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4647 {source="MONDO:equivalentTo"}
xref: MEDGEN:392856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7019 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C2608045 {source="MEDGEN:392856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008380 {source="DOID:4647", source="NCIT:C7019"} ! retinoblastoma

[Term]
id: MONDO:0003074
name: obsolete familial retinoblastoma
is_obsolete: true
replaced_by: MONDO:0018160

[Term]
id: MONDO:0003075
name: bilateral retinoblastoma
def: "Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well." [NCIT:C8713]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4650 {source="MONDO:equivalentTo"}
xref: MEDGEN:163163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201038 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8713 {source="DOID:4650", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0854914 {source="MEDGEN:163163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008380 {source="DOID:4650", source="NCIT:C8713"} ! retinoblastoma

[Term]
id: MONDO:0003076
name: unilateral retinoblastoma
def: "A retinoblastoma that only involves a single eye." [NCIT:C8714]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:4651 {source="MONDO:equivalentTo"}
xref: MEDGEN:208929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8714 {source="DOID:4651", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0854915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208929"}
is_a: MONDO:0008380 {source="DOID:4651", source="NCIT:C8714"} ! retinoblastoma

[Term]
id: MONDO:0003077
name: intraocular retinoblastoma
def: "Retinoblastoma restricted to local involvement." [NCIT:C7846]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intraocular retinoblastoma" EXACT [DOID:4653, NCIT:C7846]
xref: DOID:4653 {source="MONDO:equivalentTo"}
xref: MEDGEN:78874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7846 {source="DOID:4653", source="MONDO:equivalentTo"}
xref: UMLS:C0278717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78874"}
is_a: MONDO:0008380 {source="DOID:4653", source="NCIT:C7846"} ! retinoblastoma

[Term]
id: MONDO:0003078
name: extraocular retinoblastoma
def: "Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow." [NCIT:C7848]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "extraocular retinoblastoma" EXACT [DOID:4656, NCIT:C7848]
synonym: "metastatic retinoblastoma" EXACT [NCIT:C7848]
xref: DOID:4656 {source="MONDO:equivalentTo"}
xref: MEDGEN:75861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7848 {source="MONDO:equivalentTo", source="DOID:4656"}
xref: UMLS:C0278719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75861"}
is_a: MONDO:0008380 {source="DOID:4656", source="NCIT:C7848"} ! retinoblastoma

[Term]
id: MONDO:0003079
name: mastocytoma
def: "A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung." [NCIT:C9303]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mastocytoma" EXACT [NCIT:C9303]
xref: ICD9:238.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9740/1 {source="NCIT:C9303"}
xref: MEDGEN:6237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034801 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C9303 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:404171008 {source="MONDO:equivalentTo"}
xref: UMLS:C0024897 {source="MEDGEN:6237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002724 {source="NCIT:C9303"} ! mast cell neoplasm

[Term]
id: MONDO:0003080
name: obsolete indolent systemic mastocytosis
is_obsolete: true
replaced_by: MONDO:0020331

[Term]
id: MONDO:0003081
name: thalamic disorder
def: "A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma." [NCIT:P378]
synonym: "disease of dorsal plus ventral thalamus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of dorsal plus ventral thalamus" EXACT []
synonym: "disorder of dorsal plus ventral thalamus" EXACT [MONDO:patterns/location_top]
synonym: "dorsal plus ventral thalamus disease" EXACT [MONDO:patterns/location]
synonym: "dorsal plus ventral thalamus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:4662 {source="MONDO:equivalentTo"}
xref: MEDGEN:52693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013786 {source="DOID:4662", source="MONDO:equivalentTo"}
xref: NCIT:C85186 {source="DOID:4662", source="MONDO:equivalentTo"}
xref: UMLS:C0039726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52693"}
is_a: MONDO:0005560 {source="DOID:4662", source="MESH:D013786", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001897 ! dorsal plus ventral thalamus

[Term]
id: MONDO:0003082
name: filamentary keratitis
xref: DOID:4664 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.12 {source="DOID:4664"}
xref: ICD9:370.23 {source="DOID:4664", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:51286002 {source="DOID:4664", source="MONDO:equivalentTo"}
xref: UMLS:C0155077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509773"}
is_a: MONDO:0003085 {source="DOID:4664"} ! keratitis

[Term]
id: MONDO:0003083
name: venous hemangioma
def: "A rare slow growing benign tumor of aberrant and ectatic venous connections." [http://www.pathologyoutlines.com/topic/softtissuevenoushemangioma.html]
synonym: "Venous angioma" EXACT [NCIT:C4296]
synonym: "Venous malformation" EXACT [NCIT:C4296]
xref: DOID:467 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9122/0 {source="NCIT:C4296"}
xref: MEDGEN:90801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4296 {source="DOID:467", source="MONDO:equivalentTo"}
xref: SCTID:403968005 {source="DOID:467", source="MONDO:equivalentTo"}
xref: SCTID:56468002 {source="DOID:467"}
xref: UMLS:C0334532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90801"}
is_a: MONDO:0006500 {source="DOID:467", source="MONDO:Redundant", source="NCIT:C4296"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_basis_in_disruption_of GO:0048845 ! venous blood vessel morphogenesis
relationship: disease_has_basis_in_disruption_of GO:0048845 {source="http://www.pathologyoutlines.com/topic/softtissuevenoushemangioma.html"} ! venous blood vessel morphogenesis

[Term]
id: MONDO:0003084
name: uremic neuropathy
def: "Neuropathy resulting from uremia." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4675 {source="MONDO:equivalentTo"}
xref: ICD9:357.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27055 {source="DOID:4675", source="MONDO:equivalentTo"}
xref: SCTID:11659006 {source="DOID:4675", source="MONDO:equivalentTo"}
xref: UMLS:C0268708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75707"}
is_a: MONDO:0005244 {source="NCIT:C27055"} ! peripheral neuropathy
is_a: MONDO:0007008 {source="DOID:4675"} ! uremia

[Term]
id: MONDO:0003085
name: keratitis
def: "A corneal disease that is characterized by inflammation of the cornea." [NCIT:C26805]
subset: otar {source="MONDO:OTAR"}
synonym: "cornea inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of cornea" EXACT []
xref: DOID:4677 {source="MONDO:equivalentTo"}
xref: EFO:0009449 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H16 {source="DOID:4677", source="MONDO:equivalentTo"}
xref: ICD10CM:H16.9 {source="DOID:4677"}
xref: ICD9:370 {source="DOID:4677"}
xref: ICD9:370.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:370.9 {source="DOID:4677", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:44013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007634 {source="DOID:4677", source="MONDO:equivalentTo"}
xref: NCIT:C26805 {source="DOID:4677", source="MONDO:equivalentTo"}
xref: SCTID:155151002 {source="DOID:4677"}
xref: SCTID:155155006 {source="DOID:4677"}
xref: SCTID:193757003 {source="DOID:4677"}
xref: SCTID:193793001 {source="DOID:4677"}
xref: SCTID:267730006 {source="DOID:4677"}
xref: SCTID:5888003 {source="DOID:4677", source="MONDO:equivalentTo"}
xref: UMLS:C0022568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44013"}
is_a: MONDO:0000942 {source="DOID:4677", source="MESH:D007634", source="MONDO:Redundant", source="NCIT:C26805/inferred"} ! corneal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000964 ! cornea

[Term]
id: MONDO:0003086
name: thymic mucoepidermoid carcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports." [NCIT:C6457]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mucoepidermoid carcinoma of the Thymus" EXACT [DOID:4678, NCIT:C6457]
synonym: "mucoepidermoid carcinoma of Thymus" EXACT [NCIT:C6457]
synonym: "thymic mucoepidermoid carcinoma" EXACT [NCIT:C6457]
synonym: "Thymus mucoepidermoid carcinoma" EXACT [NCIT:C6457]
synonym: "thymus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4678 {source="MONDO:equivalentTo"}
xref: MEDGEN:277383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6457 {source="MONDO:equivalentTo", source="DOID:4678"}
xref: UMLS:C1334814 {source="MEDGEN:277383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003036 {source="DOID:4678", source="MONDO:Redundant", source="NCIT:C6457"} ! mucoepidermoid carcinoma
is_a: MONDO:0006451 {source="DOID:4678", source="NCIT:C6457"} ! thymic carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0003087
name: mucoepidermoid breast carcinoma
def: "A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare." [NCIT:C5166]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "mucoepidermoid breast carcinoma" EXACT [NCIT:C5166]
synonym: "mucoepidermoid carcinoma of breast" EXACT [DOID:4679, NCIT:C5166]
synonym: "mucoepidermoid carcinoma of the breast" EXACT [DOID:4679, NCIT:C5166]
xref: DOID:4679 {source="MONDO:equivalentTo"}
xref: MEDGEN:233721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5166 {source="DOID:4679", source="MONDO:equivalentTo"}
xref: UMLS:C1334813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233721"}
is_a: MONDO:0003036 {source="DOID:4679", source="MONDO:Redundant", source="NCIT:C5166"} ! mucoepidermoid carcinoma
is_a: MONDO:0006256 {source="NCIT:C5166"} ! invasive breast carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast
relationship: excluded_subClassOf MONDO:0006043 {source="DOID:4679", source="https://orcid.org/0000-0001-5208-3432"} ! metaplastic breast carcinoma

[Term]
id: MONDO:0003088
name: intramuscular hemangioma
def: "A hemangioma arising from skeletal muscle." [NCIT:C3699]
synonym: "intramuscular angioma" EXACT [DOID:468, NCIT:C3699]
synonym: "intramuscular hemangioma (morphologic abnormality)" EXACT [DOID:468]
xref: DOID:468 {source="MONDO:equivalentTo"}
xref: ICDO:9132/0 {source="NCIT:C3699"}
xref: MEDGEN:61450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006391 {source="DOID:468"}
xref: NCIT:C3699 {source="DOID:468", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:54249004 {source="DOID:468"}
xref: UMLS:C0205789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61450"}
is_a: MONDO:0003096 {source="DOID:468", source="NCIT:C3699"} ! deep hemangioma

[Term]
id: MONDO:0003089
name: extrahepatic bile duct mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts." [NCIT:C5862]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5862]
synonym: "extrahepatic bile duct mucoepidermoid carcinoma" EXACT [NCIT:C5862]
synonym: "mucoepidermoid carcinoma of bile duct" EXACT [NCIT:C5862]
synonym: "mucoepidermoid carcinoma of the bile duct" EXACT [DOID:4681, NCIT:C5862]
xref: DOID:4681 {source="MONDO:equivalentTo"}
xref: MEDGEN:272368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5862 {source="MONDO:equivalentTo", source="DOID:4681"}
xref: UMLS:C1332552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272368"}
is_a: MONDO:0003036 {source="DOID:4681", source="MONDO:Redundant", source="NCIT:C5862"} ! mucoepidermoid carcinoma
is_a: MONDO:0003090 {source="NCIT:C5862"} ! extrahepatic bile duct carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0003090
name: extrahepatic bile duct carcinoma
def: "A carcinoma that arises from epithelial cells of the extrahepatic bile duct." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of extrahepatic bile duct" EXACT [MONDO:patterns/carcinoma, NCIT:C3860]
synonym: "carcinoma of the extrahepatic bile duct" EXACT [NCIT:C3860]
synonym: "extrahepatic bile duct cancer" EXACT [DOID:4682, NCIT:C3860]
synonym: "extrahepatic bile duct carcinoma" EXACT [MONDO:patterns/location, NCIT:C3860]
xref: DOID:4682 {source="MONDO:equivalentTo"}
xref: MEDGEN:116036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3860 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4682"}
xref: SCTID:254603004 {source="DOID:4682"}
xref: SCTID:269551004 {source="DOID:4682"}
xref: SCTID:372101000 {source="MONDO:equivalentTo", source="DOID:4682"}
xref: SCTID:93790004 {source="DOID:4682"}
xref: UMLS:C0238019 {source="MEDGEN:116036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005496 {source="DOID:4682", source="MONDO:Redundant", source="NCIT:C3860"} ! bile duct carcinoma
is_a: MONDO:0021321 {source="MONDO:Redundant", source="NCIT:C3860"} ! malignant tumor of extrahepatic bile duct
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0003091
name: cutaneous mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma that involves the zone of skin." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mucoepidermoid skin carcinoma" EXACT [DOID:4683, NCIT:C4472]
synonym: "zone of skin mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4683 {source="MONDO:equivalentTo"}
xref: MEDGEN:91072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4472 {source="DOID:4683", source="MONDO:equivalentTo"}
xref: SCTID:254713002 {source="DOID:4683", source="MONDO:equivalentTo"}
xref: UMLS:C0346019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91072"}
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0003092
name: lacrimal gland mucoepidermoid carcinoma
def: "An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells." [NCIT:C6091]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lacrimal gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C6091]
synonym: "mucoepidermoid carcinoma of lacrimal gland" EXACT [NCIT:C6091]
synonym: "mucoepidermoid carcinoma of the lacrimal gland" EXACT [DOID:4685, NCIT:C6091]
xref: DOID:4685 {source="MONDO:equivalentTo"}
xref: MEDGEN:235248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6091 {source="DOID:4685", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334359 {source="MEDGEN:235248", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002463 {source="DOID:4685", source="MONDO:Redundant", source="NCIT:C6091"} ! lacrimal gland carcinoma
is_a: MONDO:0003036 {source="DOID:4685", source="MONDO:Redundant", source="NCIT:C6091"} ! mucoepidermoid carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0003093
name: mucoepidermoid esophageal carcinoma
def: "A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophagus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "mucoepidermoid carcinoma of the esophagus" EXACT [DOID:4686, NCIT:C5343]
synonym: "mucoepidermoid carcinoma of the oesophagus" EXACT OMO:0003005 []
synonym: "oesophagus mucoepidermoid carcinoma" EXACT OMO:0003005 []
xref: DOID:4686 {source="MONDO:equivalentTo"}
xref: MEDGEN:234232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5343 {source="DOID:4686", source="MONDO:equivalentTo"}
xref: UMLS:C1333461 {source="MEDGEN:234232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0003094
name: obsolete mucoepidermoid thyroid carcinoma
is_obsolete: true
replaced_by: MONDO:0006463

[Term]
id: MONDO:0003095
name: laryngeal mucoepidermoid carcinoma
def: "A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms." [NCIT:C9463]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "laryngeal mucoepidermoid carcinoma" EXACT [NCIT:C9463]
synonym: "laryngeal throat mucoepidermoid cancer" EXACT [NCIT:C9463]
synonym: "larynx mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "mucoepidermoid carcinoma of larynx" EXACT [DOID:4688, NCIT:C9463]
synonym: "mucoepidermoid carcinoma of the larynx" EXACT [NCIT:C9463]
xref: DOID:4688 {source="MONDO:equivalentTo"}
xref: MEDGEN:272792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9463 {source="DOID:4688", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272792"}
is_a: MONDO:0002358 {source="DOID:4688", source="MONDO:Redundant", source="NCIT:C9463"} ! laryngeal carcinoma
is_a: MONDO:0003036 {source="DOID:4688", source="MONDO:Redundant", source="NCIT:C9463"} ! mucoepidermoid carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0003096
name: deep hemangioma
def: "A hemangioma arising from the deep soft tissues." [NCIT:C6555]
synonym: "deep angioma" EXACT [NCIT:C6555]
synonym: "deep hemangioma" EXACT [NCIT:C6555]
xref: DOID:469 {source="MONDO:equivalentTo"}
xref: MEDGEN:232421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6555 {source="DOID:469", source="MONDO:equivalentTo"}
xref: UMLS:C1333265 {source="MEDGEN:232421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:469", source="NCIT:C6555"} ! hemangioma

[Term]
id: MONDO:0003097
name: childhood mediastinal neurogenic neoplasm
synonym: "childhood mediastinal neurogenic neoplasm" EXACT [NCIT:C5429]
synonym: "childhood mediastinal neurogenic tumor" EXACT [NCIT:C5429]
synonym: "childhood mediastinal neurogenic tumour" EXACT OMO:0003005 []
synonym: "childhood neurogenic neoplasm of mediastinum" EXACT [NCIT:C5429]
synonym: "childhood neurogenic neoplasm of the mediastinum" EXACT [NCIT:C5429]
synonym: "childhood neurogenic tumor of mediastinum" EXACT [NCIT:C5429]
synonym: "childhood neurogenic tumor of the mediastinum" EXACT [NCIT:C5429]
synonym: "childhood neurogenic tumour of mediastinum" EXACT OMO:0003005 []
synonym: "childhood neurogenic tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "paediatric mediastinal neurogenic neoplasm" EXACT OMO:0003005 []
synonym: "paediatric mediastinal neurogenic tumour" EXACT OMO:0003005 []
synonym: "paediatric neurogenic neoplasm of mediastinum" EXACT OMO:0003005 []
synonym: "paediatric neurogenic neoplasm of the mediastinum" EXACT OMO:0003005 []
synonym: "paediatric neurogenic tumour of mediastinum" EXACT OMO:0003005 []
synonym: "paediatric neurogenic tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "pediatric mediastinal neurogenic neoplasm" EXACT [NCIT:C5429]
synonym: "pediatric mediastinal neurogenic tumor" EXACT [NCIT:C5429]
synonym: "pediatric neurogenic neoplasm of mediastinum" EXACT [NCIT:C5429]
synonym: "pediatric neurogenic neoplasm of the mediastinum" EXACT [NCIT:C5429]
synonym: "pediatric neurogenic tumor of mediastinum" EXACT [DOID:4690, NCIT:C5429]
synonym: "pediatric neurogenic tumor of the mediastinum" EXACT [NCIT:C5429]
xref: DOID:4690 {source="MONDO:equivalentTo"}
xref: MEDGEN:234134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5429 {source="MONDO:equivalentTo", source="DOID:4690"}
xref: UMLS:C1332981 {source="MEDGEN:234134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001406 {source="MONDO:Redundant", source="NCIT:C5429"} ! peripheral nervous system neoplasm
is_a: MONDO:0003098 {source="DOID:4690", source="MONDO:Redundant", source="NCIT:C5429"} ! mediastinal neural neoplasm
is_a: MONDO:0021079 {source="MONDO:Redundant", source="NCIT:C5429"} ! childhood neoplasm
intersection_of: MONDO:0003098 {source="NCIT:C5429"} ! mediastinal neural neoplasm
intersection_of: has_characteristic HP:0011463 {source="NCIT:C5429"} ! Childhood onset

[Term]
id: MONDO:0003098
name: mediastinal neural neoplasm
def: "A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma." [NCIT:C6624]
synonym: "malignant mediastinal neurogenic neoplasm" RELATED [DOID:4691]
synonym: "mediastinal neural neoplasm" EXACT [NCIT:C6624]
synonym: "mediastinal neural tumor" EXACT [NCIT:C6624]
synonym: "mediastinal neural tumour" EXACT OMO:0003005 []
synonym: "mediastinal neurogenic neoplasm" EXACT [NCIT:C6624]
synonym: "mediastinal neurogenic tumor" EXACT [NCIT:C6624]
synonym: "mediastinal neurogenic tumour" EXACT OMO:0003005 []
synonym: "neurogenic neoplasm of mediastinum" EXACT [NCIT:C6624]
synonym: "neurogenic neoplasm of the mediastinum" EXACT [NCIT:C6624]
synonym: "neurogenic tumor of mediastinum" EXACT [DOID:4691, NCIT:C6624]
synonym: "neurogenic tumor of the mediastinum" EXACT [NCIT:C6624]
synonym: "neurogenic tumour of mediastinum" EXACT OMO:0003005 []
synonym: "neurogenic tumour of the mediastinum" EXACT OMO:0003005 []
xref: DOID:4691 {source="MONDO:equivalentTo"}
xref: MEDGEN:277353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6624 {source="MONDO:equivalentTo", source="DOID:4691"}
xref: UMLS:C1334672 {source="MEDGEN:277353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6624"} ! neoplasm of mediastinum
intersection_of: MONDO:0005070 {source="NCIT:C6624"} ! neoplasm
intersection_of: disease_has_location UBERON:0001021 {source="NCIT:C6624"} ! nerve
intersection_of: disease_has_location UBERON:0003728 {source="NCIT:C6624"} ! mediastinum

[Term]
id: MONDO:0003099
name: obsolete endophthalmitis
is_obsolete: true
replaced_by: MONDO:0016047

[Term]
id: MONDO:0003100
name: nerve plexus neoplasm
def: "A neoplasm (disease) that involves the nerve plexus." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neoplasm of nerve plexus" EXACT [MONDO:patterns/neoplasm, NCIT:C5822]
synonym: "neoplasm of the nerve plexus" EXACT [NCIT:C5822]
synonym: "nerve plexus neoplasm" EXACT [NCIT:C5822]
synonym: "nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nerve plexus neoplasms" EXACT [NCIT:C5822]
synonym: "nerve plexus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5822]
synonym: "nerve plexus tumors" EXACT [NCIT:C5822]
synonym: "nerve plexus tumour" EXACT OMO:0003005 []
synonym: "nerve plexus tumours" EXACT OMO:0003005 []
synonym: "neural plexus neoplasms" EXACT [NCIT:C5822]
synonym: "neural plexus tumors" EXACT [DOID:4693, NCIT:C5822]
synonym: "neural plexus tumours" EXACT OMO:0003005 []
synonym: "tumor of nerve plexus" EXACT [MONDO:patterns/neoplasm, NCIT:C5822]
synonym: "tumor of the nerve plexus" EXACT [NCIT:C5822]
synonym: "tumour of nerve plexus" EXACT OMO:0003005 []
synonym: "tumour of the nerve plexus" EXACT OMO:0003005 []
xref: DOID:4693 {source="MONDO:equivalentTo"}
xref: MEDGEN:235366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5822 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4693"}
xref: UMLS:C1334945 {source="MEDGEN:235366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001406 {source="DOID:4693", source="MONDO:Redundant", source="NCIT:C5822"} ! peripheral nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001810 ! nerve plexus

[Term]
id: MONDO:0003101
name: obsolete intraneural perineurioma
is_obsolete: true
replaced_by: MONDO:0015032

[Term]
id: MONDO:0003102
name: obsolete perineurioma
is_obsolete: true
replaced_by: MONDO:0019404

[Term]
id: MONDO:0003103
name: nerve root neoplasm
def: "Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression." [NCIT:P378]
synonym: "neoplasm of nerve Root" EXACT [NCIT:C5119]
synonym: "neoplasm of nerve root" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the nerve Root" EXACT [NCIT:C5119]
synonym: "neoplasms, nerve Root" EXACT [NCIT:C5119]
synonym: "nerve root neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nerve Root neoplasms" EXACT [NCIT:C5119]
synonym: "nerve Root tumor" EXACT [NCIT:C5119]
synonym: "nerve root tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "nerve Root tumors" EXACT [NCIT:C5119]
synonym: "nerve Root tumour" EXACT OMO:0003005 []
synonym: "nerve root tumour" EXACT OMO:0003005 []
synonym: "nerve Root tumours" EXACT OMO:0003005 []
synonym: "tumor of nerve Root" EXACT [DOID:4698, NCIT:C5119]
synonym: "tumor of nerve root" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the nerve Root" EXACT [NCIT:C5119]
synonym: "tumour of nerve Root" EXACT OMO:0003005 []
synonym: "tumour of nerve root" EXACT OMO:0003005 []
synonym: "tumour of the nerve Root" EXACT OMO:0003005 []
xref: DOID:4698 {source="MONDO:equivalentTo"}
xref: MEDGEN:233753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5119 {source="DOID:4698", source="MONDO:equivalentTo"}
xref: UMLS:C1334946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233753"}
is_a: MONDO:0001406 {source="DOID:4698", source="NCIT:C5119"} ! peripheral nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002211 ! nerve root

[Term]
id: MONDO:0003104
name: epicardium cancer
def: "A malignant neoplasm involving the epicardium." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of epicardium" EXACT [MONDO:patterns/cancer]
synonym: "epicardial tumor" BROAD [DOID:4699, NCIT:C5347]
synonym: "epicardial tumour" BROAD OMO:0003005 []
synonym: "epicardium cancer" EXACT [MONDO:patterns/location]
synonym: "malignant epicardial neoplasm" EXACT [NCIT:C4568]
synonym: "malignant epicardial tumor" EXACT [DOID:4699, NCIT:C4568]
synonym: "malignant epicardial tumour" EXACT OMO:0003005 []
synonym: "malignant epicardium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of epicardium" EXACT [DOID:4699, MONDO:patterns/cancer, NCIT:C4568]
synonym: "malignant neoplasm of the epicardium" EXACT [NCIT:C4568]
synonym: "malignant tumor of epicardium" EXACT [NCIT:C4568]
synonym: "malignant tumor of the epicardium" EXACT [NCIT:C4568]
synonym: "malignant tumour of epicardium" EXACT OMO:0003005 []
synonym: "malignant tumour of the epicardium" EXACT OMO:0003005 []
xref: DOID:4699 {source="MONDO:equivalentTo"}
xref: MEDGEN:388560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4568 {source="MONDO:equivalentTo"}
xref: NCIT:C5347 {source="DOID:4699"}
xref: SCTID:126733004 {source="DOID:4699"}
xref: SCTID:93782004 {source="DOID:4699"}
xref: UMLS:C2607932 {source="MEDGEN:388560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001322 {source="DOID:4699", source="MONDO:Entailed", source="MONDO:Redundant"} ! pericardium cancer
is_a: MONDO:0001340 {source="DOID:4699/inferred", source="MONDO:Redundant", source="NCIT:C4568"} ! heart cancer
is_a: MONDO:0021379 {source="MONDO:Redundant", source="NCIT:C4568"} ! neoplasm of epicardium
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002348 ! epicardium

[Term]
id: MONDO:0003105
name: prostate disorder
def: "A disease involving the prostate gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of prostate gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of prostate gland" EXACT []
synonym: "disorder of prostate gland" EXACT [MONDO:patterns/location_top]
synonym: "prostate disease" EXACT [NCIT:C26865]
synonym: "prostate disorder" EXACT [NCIT:C26865]
synonym: "prostate gland disease" EXACT [MONDO:patterns/location]
synonym: "prostate gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:47 {source="MONDO:equivalentTo"}
xref: EFO:0009602 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N42.9 {source="DOID:47"}
xref: ICD9:602.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:602.9 {source="MONDO:equivalentTo", source="DOID:47", source="MONDO:i2s"}
xref: MEDGEN:10964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011469 {source="MONDO:equivalentTo", source="DOID:47"}
xref: NCIT:C26865 {source="MONDO:equivalentTo", source="DOID:47"}
xref: SCTID:197979000 {source="DOID:47"}
xref: SCTID:30281009 {source="MONDO:equivalentTo", source="DOID:47"}
xref: UMLS:C0033575 {source="MEDGEN:10964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="DOID:47", source="MESH:D011469", source="MONDO:Redundant", source="NCIT:C26865"} ! male reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0003106
name: obsolete verrucous keratotic hemangioma
is_obsolete: true
replaced_by: MONDO:0018734

[Term]
id: MONDO:0003107
name: infratentorial cancer
def: "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces." [NCIT:P378]
synonym: "brain neoplasm, infratentorial" BROAD [DOID:4706, NCIT:C3139]
synonym: "infratentorial neoplasms, malignant" EXACT [NCIT:C4966]
synonym: "malignant infratentorial neoplasm" EXACT [NCIT:C4966]
synonym: "malignant infratentorial tumor" EXACT [NCIT:C4966]
synonym: "malignant infratentorial tumors" EXACT [DOID:4706, NCIT:C4966]
synonym: "malignant infratentorial tumour" EXACT OMO:0003005 []
synonym: "malignant infratentorial tumours" EXACT OMO:0003005 []
xref: DOID:4706 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71.7 {source="DOID:4706"}
xref: MEDGEN:199689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015192 {source="MONDO:equivalentTo", source="DOID:4706"}
xref: NCIT:C3139 {source="MONDO:relatedTo", source="DOID:4706"}
xref: NCIT:C4966 {source="MONDO:equivalentTo", source="DOID:4706"}
xref: UMLS:C0751593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199689"}
is_a: MONDO:0001657 {source="DOID:4706", source="MESH:D015192", source="NCIT:C4966"} ! brain cancer

[Term]
id: MONDO:0003108
name: cervicomedullary junction neoplasm
synonym: "cervicomedullary junction neoplasms" EXACT [NCIT:C5423]
synonym: "cervicomedullary junction tumor" EXACT [NCIT:C5423]
synonym: "cervicomedullary junction tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cervicomedullary junction" EXACT [NCIT:C5423]
synonym: "neoplasm of the cervicomedullary junction" EXACT [NCIT:C5423]
synonym: "tumor of cervicomedullary junction" EXACT [NCIT:C5423]
synonym: "tumor of the cervicomedullary junction" EXACT [DOID:4707, NCIT:C5423]
synonym: "tumour of cervicomedullary junction" EXACT OMO:0003005 []
synonym: "tumour of the cervicomedullary junction" EXACT OMO:0003005 []
xref: DOID:4707 {source="MONDO:equivalentTo"}
xref: MEDGEN:272453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5423 {source="MONDO:equivalentTo", source="DOID:4707"}
xref: UMLS:C1332923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272453"}
is_a: MONDO:0021234 {source="MONDO:Redundant", source="NCIT:C5423"} ! spinal cord neoplasm
relationship: excluded_subClassOf MONDO:0003107 {source="DOID:4707", source="https://orcid.org/0000-0001-5208-3432"} ! infratentorial cancer

[Term]
id: MONDO:0003109
name: foramen magnum meningioma
def: "A meningioma that affects the foramen magnum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "foramen magnum meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of foramen magnum" EXACT []
synonym: "meningioma of Foramen magnum" EXACT [NCIT:C5280]
synonym: "meningioma of the Foramen magnum" EXACT [DOID:4708, NCIT:C5280]
xref: DOID:4708 {source="MONDO:equivalentTo"}
xref: MEDGEN:232512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5280 {source="MONDO:equivalentTo", source="DOID:4708"}
xref: UMLS:C1333630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232512"}
is_a: MONDO:0002998 {source="DOID:4708", source="NCIT:C5280"} ! skull base meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0003687 ! foramen magnum

[Term]
id: MONDO:0003110
name: skin hemangioma
def: "A hemangioma arising from the skin." [NCIT:C4905]
subset: otar {source="MONDO:OTAR"}
synonym: "angioma of skin" EXACT [NCIT:C4905]
synonym: "angioma of the skin" EXACT [DOID:471, NCIT:C4905]
synonym: "angiomatous naevus of skin" EXACT [DOID:471]
synonym: "hemangioma of skin" EXACT [NCIT:C4905]
synonym: "hemangioma of the skin" EXACT [NCIT:C4905]
synonym: "hemangioma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin angioma" EXACT [NCIT:C4905]
synonym: "skin hemangioma" EXACT [NCIT:C4905]
synonym: "zone of skin hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:471 {source="MONDO:equivalentTo"}
xref: MEDGEN:151951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4905 {source="MONDO:equivalentTo", source="DOID:471", source="MONDO:exact-label-match"}
xref: SCTID:189195009 {source="DOID:471"}
xref: SCTID:254773009 {source="DOID:471"}
xref: SCTID:93471006 {source="MONDO:equivalentTo", source="DOID:471"}
xref: UMLS:C0687140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:151951"}
is_a: MONDO:0002531 {source="DOID:471", source="MONDO:Redundant", source="NCIT:C4905/inferred"} ! skin neoplasm
is_a: MONDO:0006500 {source="DOID:471", source="MONDO:Redundant", source="NCIT:C4905"} ! hemangioma
is_a: MONDO:0021440 {source="MONDO:Entailed", source="NCIT:C4905/inferred"} ! benign neoplasm of skin
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0003111
name: gastric neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5696]
comment: Some subtypes are malignant.
subset: gard_rare {source="GARD:19750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100075"}
subset: orphanet_rare {source="Orphanet:100075"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric neuroendocrine neoplasm" EXACT [NCIT:C5696]
synonym: "NET of stomach" EXACT [Orphanet:100075]
synonym: "neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5696]
synonym: "neuroendocrine neoplasm of the stomach" EXACT [NCIT:C5696]
synonym: "neuroendocrine tumor of stomach" RELATED [Orphanet:100075]
synonym: "neuroendocrine tumor of the stomach" EXACT [DOID:4715, NCIT:C5696]
synonym: "neuroendocrine tumour of stomach" RELATED OMO:0003005 []
synonym: "neuroendocrine tumour of the stomach" EXACT OMO:0003005 []
synonym: "stomach NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "stomach neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5696]
synonym: "stomach neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "stomach neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "stomach neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:4715 {source="MONDO:equivalentTo"}
xref: GARD:19750 {source="MONDO:GARD"}
xref: MEDGEN:232548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5696 {source="MONDO:equivalentTo", source="DOID:4715", source="MONDO:exact-label-match"}
xref: Orphanet:100075 {source="MONDO:equivalentTo"}
xref: SCTID:721194008 {source="MONDO:equivalentTo"}
xref: UMLS:C1333783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232548"}
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C5696"} ! gastric neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: excluded_subClassOf MONDO:0002891 {source="DOID:4715", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete gastrointestinal neuroendocrine benign tumor

[Term]
id: MONDO:0003112
name: malignant gastric germ cell tumor
def: "A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma." [NCIT:C5486]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "germ cell tumor of the stomach" EXACT [DOID:4716, NCIT:C6448]
synonym: "germ cell tumour of the stomach" EXACT OMO:0003005 []
synonym: "malignant gastric germ cell neoplasm" EXACT [NCIT:C5486]
synonym: "malignant gastric germ cell tumor" EXACT [NCIT:C5486]
synonym: "malignant germ cell neoplasm of stomach" EXACT [NCIT:C5486]
synonym: "malignant germ cell neoplasm of the stomach" EXACT [NCIT:C5486]
synonym: "malignant germ cell tumor of stomach" EXACT [NCIT:C5486]
synonym: "malignant germ cell tumor of the stomach" EXACT [NCIT:C5486]
synonym: "malignant germ cell tumour of stomach" EXACT OMO:0003005 []
synonym: "malignant germ cell tumour of the stomach" EXACT OMO:0003005 []
xref: DOID:4716 {source="MONDO:equivalentTo"}
xref: MEDGEN:233663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5486 {source="MONDO:equivalentTo"}
xref: NCIT:C6448 {source="DOID:4716"}
xref: UMLS:C1334584 {source="MONDO:equivalentTo", source="MEDGEN:233663", source="MONDO:MEDGEN"}
is_a: MONDO:0001056 {source="DOID:4716", source="MONDO:Redundant", source="NCIT:C5486"} ! gastric cancer
is_a: MONDO:0003113 {source="NCIT:C5486"} ! extragonadal germ cell cancer
intersection_of: MONDO:0006290 ! malignant germ cell tumor
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0003113
name: extragonadal germ cell cancer
def: "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:C8881]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "extragonadal germ cell malignant tumor" EXACT [DOID:4717]
synonym: "extragonadal germ cell malignant tumour" EXACT OMO:0003005 []
synonym: "extragonadal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant extragonadal germ cell tumor" EXACT [NCIT:C8881]
synonym: "malignant extragonadal germ cell tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of extragonadal germ cell" EXACT [NCIT:C8881]
synonym: "malignant neoplasm of the extragonadal germ cell" EXACT [NCIT:C8881]
synonym: "malignant tumor of extragonadal germ cell" EXACT [NCIT:C8881]
synonym: "malignant tumor of the extragonadal germ cell" EXACT [NCIT:C8881]
synonym: "malignant tumour of extragonadal germ cell" EXACT OMO:0003005 []
synonym: "malignant tumour of the extragonadal germ cell" EXACT OMO:0003005 []
synonym: "neoplasm of extragonadal germ cell" RELATED EXCLUDE [DOID:4717]
synonym: "tumor of extragonadal germ cell" RELATED [DOID:4717]
synonym: "tumour of extragonadal germ cell" RELATED OMO:0003005 []
xref: DOID:4717 {source="MONDO:equivalentTo"}
xref: MEDGEN:235292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3918 {source="DOID:4717"}
xref: NCIT:C8881 {source="MONDO:equivalentTo", source="DOID:4717"}
xref: UMLS:C1334581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235292"}
is_a: MONDO:0005040 {source="DOID:4717", source="MONDO:0003113/inferred", source="NCIT:C8881/inferred"} ! germ cell tumor
is_a: MONDO:0006290 {source="MONDO:Redundant", source="NCIT:C8881"} ! malignant germ cell tumor
is_a: MONDO:0018201 {source="MONDO:Redundant", source="NCIT:C8881"} ! extragonadal germ cell tumor
intersection_of: MONDO:0018201 ! extragonadal germ cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003114
name: obsolete bone giant cell sarcoma
is_obsolete: true
replaced_by: MONDO:0006287

[Term]
id: MONDO:0003115
name: subglottic hemangioma
def: "A hemangioma arising from the subglottic area." [NCIT:P378]
synonym: "angioma of subglottis" EXACT [NCIT:C6026]
synonym: "angioma of the subglottis" EXACT [NCIT:C6026]
synonym: "hemangioma of subglottis" EXACT [NCIT:C6026]
synonym: "hemangioma of the subglottis" EXACT [DOID:472, NCIT:C6026]
synonym: "subglottic angioma" EXACT [NCIT:C6026]
synonym: "subglottic hemangioma" EXACT [NCIT:C6026]
synonym: "subglottis angioma" EXACT [NCIT:C6026]
synonym: "subglottis hemangioma" EXACT [MONDO:patterns/location, NCIT:C6026]
xref: DOID:472 {source="MONDO:equivalentTo"}
xref: MEDGEN:234907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6026 {source="MONDO:equivalentTo", source="DOID:472"}
xref: UMLS:C1336518 {source="MEDGEN:234907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:472", source="MONDO:Redundant", source="NCIT:C6026"} ! hemangioma
is_a: MONDO:0021530 {source="MONDO:Redundant", source="NCIT:C6026"} ! benign neoplasm of subglottis
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0036068 ! subglottis

[Term]
id: MONDO:0003116
name: obsolete calciphylaxis
is_obsolete: true
replaced_by: MONDO:0017215

[Term]
id: MONDO:0003117
name: somatoform disorder
def: "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons." [NCIT:C34956]
subset: otar {source="MONDO:OTAR"}
synonym: "physiological malfunction arising from mental factor" RELATED [DOID:4737]
synonym: "psychophysiologic disorder" RELATED [DOID:4737]
synonym: "psychosomatic disorder" RELATED [DOID:4737]
synonym: "somatoform disorder" EXACT [NCIT:C34956]
xref: DOID:4737 {source="MONDO:equivalentTo"}
xref: EFO:0009687 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F40-F48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F45 {source="DOID:4737"}
xref: ICD10CM:F45.0 {source="DOID:4737"}
xref: ICD10CM:F45.9 {source="DOID:4737"}
xref: ICD9:300.8 {source="DOID:4737"}
xref: ICD9:300.81 {source="DOID:4737"}
xref: ICD9:306.8 {source="DOID:4737"}
xref: MEDGEN:20835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013001 {source="MONDO:equivalentTo", source="DOID:4737"}
xref: NCIT:C34956 {source="MONDO:equivalentTo", source="DOID:4737"}
xref: SCTID:154892001 {source="DOID:4737"}
xref: SCTID:191743005 {source="DOID:4737"}
xref: SCTID:192035008 {source="DOID:4737"}
xref: SCTID:192430009 {source="DOID:4737"}
xref: SCTID:192431008 {source="DOID:4737"}
xref: SCTID:192437007 {source="DOID:4737"}
xref: SCTID:31297008 {source="MONDO:equivalentTo", source="DOID:4737"}
xref: SCTID:397795007 {source="DOID:4737"}
xref: SCTID:397826007 {source="DOID:4737"}
xref: SCTID:397923000 {source="DOID:4737"}
xref: SCTID:60368009 {source="DOID:4737"}
xref: SCTID:9514005 {source="DOID:4737"}
xref: UMLS:C0037650 {source="MEDGEN:20835", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="DOID:4737", source="MESH:D013001", source="NCIT:C34956"} ! psychiatric disorder

[Term]
id: MONDO:0003118
name: testicular Brenner tumor
def: "An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma." [NCIT:P378]
synonym: "testes, rudimentary Brenner tumor" EXACT [MONDO:patterns/location]
synonym: "testes, rudimentary Brenner tumour" EXACT OMO:0003005 []
synonym: "testis Brenner tumor" EXACT [MONDO:patterns/location]
synonym: "testis Brenner tumour" EXACT OMO:0003005 []
xref: DOID:4739 {source="MONDO:equivalentTo"}
xref: MEDGEN:273631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39953 {source="MONDO:equivalentTo", source="DOID:4739"}
xref: UMLS:C1515281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273631"}
intersection_of: MONDO:0024235 ! Brenner tumor
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0003119
name: obsolete histiocytoid hemangioma
is_obsolete: true
replaced_by: MONDO:0021169

[Term]
id: MONDO:0003120
name: mixed testicular germ cell cancer
def: "A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma." [NCIT:C6347]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mixed germ cell neoplasm of testis" RELATED [NCIT:C6347]
synonym: "mixed germ cell neoplasm of the testis" RELATED [NCIT:C6347]
synonym: "mixed germ cell tumor" RELATED [ONCOTREE:MGCT]
synonym: "mixed germ cell tumor of testis" RELATED [DOID:4743, NCIT:C6347]
synonym: "mixed germ cell tumor of the testis" RELATED [NCIT:C6347]
synonym: "mixed germ cell tumour" RELATED OMO:0003005 []
synonym: "mixed germ cell tumour of testis" RELATED OMO:0003005 []
synonym: "mixed germ cell tumour of the testis" RELATED OMO:0003005 []
synonym: "mixed testicular germ cell tumor" RELATED [DOID:4743]
synonym: "mixed testicular germ cell tumour" RELATED OMO:0003005 []
synonym: "testicular germ cell tumor (mixed)" RELATED [NCIT:C6347]
synonym: "testicular germ cell tumour (mixed)" RELATED OMO:0003005 []
synonym: "testicular mixed germ cell neoplasm" RELATED [NCIT:C6347]
synonym: "testicular mixed germ cell tumor" RELATED [NCIT:C6347]
synonym: "testicular mixed germ cell tumour" RELATED OMO:0003005 []
synonym: "testis mixed germ cell tumor" RELATED [MONDO:patterns/location]
synonym: "testis mixed germ cell tumour" RELATED OMO:0003005 []
xref: DOID:4743 {source="MONDO:equivalentTo"}
xref: MEDGEN:237005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6347 {source="DOID:4743", source="MONDO:equivalentTo"}
xref: ONCOTREE:MGCT {source="MONDO:equivalentTo"}
xref: UMLS:C1336720 {source="MEDGEN:237005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003510 {source="DOID:4743", source="MONDO:Redundant", source="NCIT:C6347"} ! malignant testicular germ cell tumor
is_a: MONDO:0015864 {source="MONDO:Redundant", source="NCIT:C6347"} ! mixed germ cell tumor
intersection_of: MONDO:0015864 ! mixed germ cell tumor
intersection_of: disease_has_location UBERON:0000473 ! testis
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003121
name: middle cranial fossa meningioma
def: "A meningioma that affects the middle cranial fossa." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of middle cranial fossa" EXACT []
synonym: "meningioma of middle cranial fossa" EXACT [NCIT:C5586]
synonym: "meningioma of the middle cranial fossa" EXACT [DOID:4749, NCIT:C5586]
synonym: "middle cranial fossa meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4749 {source="MONDO:equivalentTo"}
xref: MEDGEN:277369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5586 {source="MONDO:equivalentTo", source="DOID:4749"}
xref: UMLS:C1334757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277369"}
is_a: MONDO:0016642 {source="DOID:4749", source="MONDO:Redundant", source="NCIT:C5586/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0003722 ! middle cranial fossa

[Term]
id: MONDO:0003122
name: striatonigral degeneration
def: "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." [NCIT:C125695]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:4751 {source="MONDO:equivalentTo"}
xref: ICD10CM:G23.2 {source="DOID:4751", source="MONDO:equivalentTo"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:124366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020955 {source="DOID:4751", source="MONDO:equivalentTo"}
xref: NCIT:C125695 {source="MONDO:equivalentTo"}
xref: OMIMPS:271930 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:29618004 {source="DOID:4751", source="MONDO:equivalentTo"}
xref: UMLS:C0270733 {source="MEDGEN:124366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="DOID:4751/inferred", source="MESH:D020955/inferred", source="MONDO:Redundant", source="NCIT:C125695"} ! neurodegenerative disease
is_a: MONDO:0007803 {source="DOID:4751", source="MESH:D020955", source="NCIT:C125695"} ! multiple system atrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:271930"} ! inherited

[Term]
id: MONDO:0003123
name: obsolete multiple system atrophy
is_obsolete: true
replaced_by: MONDO:0007803

[Term]
id: MONDO:0003124
name: testicular Leydig cell tumor
def: "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." [NCIT:C6356]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Leydig cell neoplasm of testis" EXACT [NCIT:C6356]
synonym: "Leydig cell neoplasm of the testis" EXACT [NCIT:C6356]
synonym: "Leydig cell tumor of testis" EXACT [NCIT:C6356]
synonym: "Leydig cell tumor of the testis" RELATED [NCIT:C6356]
synonym: "Leydig cell tumour of testis" EXACT OMO:0003005 []
synonym: "Leydig cell tumour of the testis" RELATED OMO:0003005 []
synonym: "testicular Leydig cell neoplasm" EXACT [DOID:4756, NCIT:C6356]
synonym: "testicular Leydig cell tumor" EXACT [NCIT:C6356]
synonym: "testis Leydig cell tumor" EXACT [MONDO:patterns/location]
synonym: "testis Leydig cell tumour" EXACT OMO:0003005 []
xref: DOID:4756 {source="MONDO:equivalentTo"}
xref: MEDGEN:163584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6356 {source="DOID:4756", source="MONDO:equivalentTo", source="NCIT:C6356"}
xref: SCTID:67871000119105 {source="DOID:4756", source="MONDO:equivalentTo"}
xref: UMLS:C0863027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163584"}
is_a: MONDO:0003125 {source="DOID:4756/inferred", source="MONDO:Redundant", source="NCIT:C6356"} ! testicular sex cord-stromal neoplasm
is_a: MONDO:0006266 {source="DOID:4756", source="MONDO:Redundant", source="NCIT:C6356"} ! Leydig cell tumor
intersection_of: MONDO:0006266 ! Leydig cell tumor
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0003125
name: testicular sex cord-stromal neoplasm
def: "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." [NCIT:C6358]
subset: gard_rare {source="GARD:21551", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:363489"}
subset: orphanet_rare {source="Orphanet:363489"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sex cord-stromal neoplasm" RELATED [DOID:4757]
synonym: "sex cord-stromal neoplasm of testis" RELATED [NCIT:C6358]
synonym: "sex cord-stromal neoplasm of the testis" RELATED [NCIT:C6358]
synonym: "sex cord-stromal tumor of testis" EXACT [DOID:4757, NCIT:C6358, Orphanet:363489]
synonym: "sex cord-stromal tumor of the testis" RELATED [NCIT:C6358]
synonym: "sex cord-stromal tumour of testis" EXACT OMO:0003005 []
synonym: "sex cord-stromal tumour of the testis" RELATED OMO:0003005 []
synonym: "testicular sex cord-stromal neoplasm" EXACT [NCIT:C6358]
synonym: "testicular sex cord-stromal tumor" EXACT [NCIT:C6358, Orphanet:363489]
synonym: "testicular sex cord-stromal tumour" EXACT OMO:0003005 []
synonym: "testis sex cord-stromal tumor" EXACT [MONDO:patterns/location]
synonym: "testis sex cord-stromal tumour" EXACT OMO:0003005 []
xref: DOID:4757 {source="MONDO:equivalentTo"}
xref: GARD:21551 {source="MONDO:GARD"}
xref: ICD10CM:C62.1 {source="Orphanet:363489", source="Orphanet:363489/ntbt"}
xref: MEDGEN:825921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6358 {source="MONDO:equivalentTo", source="DOID:4757", source="NCIT:C6358"}
xref: Orphanet:363489 {source="MONDO:equivalentTo"}
xref: SCTID:702406000 {source="MONDO:equivalentTo", source="DOID:4757"}
xref: UMLS:C3840076 {source="MEDGEN:825921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002329 {source="DOID:4757/inferred", source="MONDO:Redundant", source="NCIT:C6358/inferred"} ! testicular disorder
is_a: MONDO:0006055 {source="DOID:4757", source="MONDO:Redundant", source="NCIT:C6358"} ! sex cord-stromal tumor
is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C6358"} ! neoplasm of testis
intersection_of: MONDO:0006055 ! sex cord-stromal tumor
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0003126
name: breast hemangioma
def: "A capillary or cavernous hemangioma arising from the breast." [NCIT:C5353]
synonym: "angioma of breast" EXACT [NCIT:C5353]
synonym: "angioma of the breast" EXACT [DOID:476, NCIT:C5353]
synonym: "breast angioma" EXACT [NCIT:C5353]
synonym: "breast hemangioma" EXACT [MONDO:patterns/location, NCIT:C5353]
synonym: "hemangioma of breast" EXACT [DOID:476, NCIT:C5353]
synonym: "hemangioma of the breast" EXACT [NCIT:C5353]
xref: DOID:476 {source="MONDO:equivalentTo"}
xref: MEDGEN:163122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5353 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:476"}
xref: UMLS:C0853715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163122"}
is_a: MONDO:0000620 {source="DOID:476", source="MONDO:Redundant", source="NCIT:C5353"} ! breast benign neoplasm
is_a: MONDO:0006500 {source="DOID:476", source="MONDO:Redundant", source="NCIT:C5353"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003127
name: obsolete embryoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4206" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005565

[Term]
id: MONDO:0003128
name: classic pulmonary blastoma
def: "A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "biphasic pulmonary blastoma" EXACT [NCIT:C36054]
synonym: "classic pulmonary blastoma" EXACT [NCIT:C36054]
xref: DOID:4767 {source="MONDO:equivalentTo"}
xref: MEDGEN:231445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36054 {source="DOID:4767", source="MONDO:equivalentTo"}
xref: UMLS:C1332556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231445"}
is_a: MONDO:0005933 {source="DOID:4767", source="NCIT:C36054"} ! pulmonary blastoma

[Term]
id: MONDO:0003129
name: epithelial predominant pulmonary blastoma
def: "A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma." [NCIT:C36053]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epithelial predominant pulmonary blastoma" EXACT [NCIT:C36053]
xref: DOID:4768 {source="MONDO:equivalentTo"}
xref: MEDGEN:234222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36053 {source="MONDO:equivalentTo", source="DOID:4768", source="MONDO:exact-label-match"}
xref: UMLS:C1333420 {source="MEDGEN:234222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005933 {source="DOID:4768", source="NCIT:C36053"} ! pulmonary blastoma

[Term]
id: MONDO:0003130
name: mesoblastic nephroma
def: "A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult." [MESH:D018201]
subset: otar {source="MONDO:OTAR"}
synonym: "mesoblastic nephroma" EXACT [DOID:4772, NCIT:C3731]
synonym: "mesoblastic nephroma (morphologic abnormality)" EXACT [DOID:4772]
xref: DOID:4772 {source="MONDO:equivalentObsolete"}
xref: EFO:0007365 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:236.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:64620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018201 {source="DOID:4772", source="MONDO:equivalentTo"}
xref: SCTID:11793003 {source="DOID:4772"}
xref: SCTID:307604008 {source="DOID:4772", source="MONDO:equivalentTo"}
xref: UMLS:C0206628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64620"}
is_a: MONDO:0002367 {source="DOID:4772", source="MESH:D018201"} ! kidney cancer

[Term]
id: MONDO:0003131
name: obsolete congenital mesoblastic nephroma
is_obsolete: true
replaced_by: MONDO:0017043

[Term]
id: MONDO:0003132
name: obsolete rapidly progressive glomerulonephritis
is_obsolete: true
replaced_by: MONDO:0017236

[Term]
id: MONDO:0003133
name: exudative glomerulonephritis
def: "Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4777 {source="MONDO:equivalentTo"}
xref: MEDGEN:154269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35706 {source="MONDO:equivalentTo", source="DOID:4777"}
xref: UMLS:C0546345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154269"}
is_a: MONDO:0002462 {source="DOID:4777", source="NCIT:C35706"} ! glomerulonephritis

[Term]
id: MONDO:0003134
name: proliferative glomerulonephritis
def: "A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4778 {source="MONDO:equivalentTo"}
xref: ICD9:583.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:68617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35281 {source="DOID:4778", source="MONDO:equivalentTo"}
xref: SCTID:441815006 {source="DOID:4778", source="MONDO:equivalentTo"}
xref: UMLS:C0235618 {source="MEDGEN:68617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="DOID:4778", source="NCIT:C35281"} ! glomerulonephritis

[Term]
id: MONDO:0003135
name: focal embolic glomerulonephritis
def: "Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4779 {source="MONDO:equivalentTo"}
xref: MEDGEN:65950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35707 {source="MONDO:equivalentTo", source="DOID:4779"}
xref: UMLS:C0238143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65950"}
is_a: MONDO:0002462 {source="DOID:4779", source="NCIT:C35707"} ! glomerulonephritis

[Term]
id: MONDO:0003136
name: anti-basement membrane glomerulonephritis
def: "Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anti-GBM antibody disease" EXACT [NCIT:C35798]
synonym: "anti-glomerular basement Membrane antibody disease" EXACT [NCIT:C35798]
xref: DOID:4780 {source="MONDO:equivalentTo"}
xref: MEDGEN:231383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200717 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35798 {source="MONDO:equivalentTo", source="DOID:4780"}
xref: UMLS:C1332309 {source="MEDGEN:231383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="DOID:4780", source="NCIT:C35798"} ! glomerulonephritis

[Term]
id: MONDO:0003137
name: diffuse glomerulonephritis
def: "Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4781 {source="MONDO:equivalentTo"}
xref: MEDGEN:163563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35799 {source="MONDO:equivalentTo", source="DOID:4781"}
xref: UMLS:C0859036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163563"}
is_a: MONDO:0002462 {source="DOID:4781", source="NCIT:C35799"} ! glomerulonephritis

[Term]
id: MONDO:0003138
name: subacute glomerulonephritis
def: "A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:4782 {source="MONDO:equivalentTo"}
xref: MEDGEN:266070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35801 {source="DOID:4782", source="MONDO:equivalentTo"}
xref: SCTID:123609007 {source="DOID:4782", source="MONDO:equivalentTo"}
xref: UMLS:C1263744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266070"}
is_a: MONDO:0002462 {source="DOID:4782", source="NCIT:C35801"} ! glomerulonephritis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003139
name: mesangial proliferative glomerulonephritis
def: "Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure." [https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis]
subset: gard_rare {source="GARD:9580", source="MONDO:GARD"}
subset: rare
synonym: "glomerulonephritis - mesangial proliferative" RELATED [GARD:0009580]
synonym: "mesangial proliferative GN" RELATED [GARD:0009580]
synonym: "Mesangioproliferative glomerulonephritis" RELATED [GARD:0009580]
xref: DOID:4783 {source="MONDO:equivalentTo"}
xref: GARD:9580 {source="MONDO:GARD"}
xref: MEDGEN:66364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201029 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200122 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35445 {source="DOID:4783", source="MONDO:equivalentTo"}
xref: SCTID:35546006 {source="DOID:4783", source="MONDO:equivalentTo"}
xref: UMLS:C0221238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66364"}
is_a: MONDO:0002462 {source="DOID:4783", source="NCIT:C35445"} ! glomerulonephritis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis" xsd:anyURI {source="GARD:0009580"}

[Term]
id: MONDO:0003140
name: immune-complex glomerulonephritis
def: "Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "immune Complex glomerulonephritis" EXACT [DOID:4784, NCIT:C35800]
xref: DOID:4784 {source="MONDO:equivalentTo"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:148168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35800 {source="DOID:4784", source="MONDO:equivalentTo"}
xref: SCTID:123752003 {source="DOID:4784", source="MONDO:equivalentTo"}
xref: UMLS:C0744421 {source="MEDGEN:148168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="DOID:4784", source="NCIT:C35800"} ! glomerulonephritis

[Term]
id: MONDO:0003141
name: cerebellopontine angle embryonal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain." [NCIT:C5436, NCIT:P378]
synonym: "C-P angle PNET" EXACT [NCIT:C5436]
synonym: "C-P angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436]
synonym: "C-P angle primitive neuroectodermal tumor" EXACT [NCIT:C5436]
synonym: "C-P angle primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "cerebellar Pontine angle PNET" EXACT [NCIT:C5436]
synonym: "cerebellar Pontine angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436]
synonym: "cerebellar Pontine angle primitive neuroectodermal tumor" EXACT [NCIT:C5436]
synonym: "cerebellar Pontine angle primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "cerebellopontine angle embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5436]
synonym: "cerebellopontine angle embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5436]
synonym: "cerebellopontine angle PNET" EXACT [DOID:4787, NCIT:C5436]
synonym: "cerebellopontine angle primitive neuroectodermal" RELATED [DOID:4787]
synonym: "cerebellopontine angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436]
synonym: "cerebellopontine angle primitive neuroectodermal tumor" EXACT [NCIT:C5436]
synonym: "cerebellopontine angle primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal neoplasm of C-P angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of cerebellar Pontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of cerebellopontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of the C-P angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of the cerebellar Pontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal neoplasm of the cerebellopontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of C-P angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of cerebellar Pontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of cerebellopontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of the C-P angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of the cerebellar Pontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumor of the cerebellopontine angle" EXACT [NCIT:C5436]
synonym: "primitive neuroectodermal tumour of C-P angle" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of cerebellar Pontine angle" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of cerebellopontine angle" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of the C-P angle" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of the cerebellar Pontine angle" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of the cerebellopontine angle" EXACT OMO:0003005 []
xref: DOID:4787 {source="MONDO:equivalentTo"}
xref: MEDGEN:232045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5436 {source="DOID:4787", source="MONDO:equivalentTo"}
xref: UMLS:C1332904 {source="MEDGEN:232045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002553 {source="DOID:4787", source="NCIT:C5436"} ! cerebellopontine angle tumor
is_a: MONDO:0003107 {source="DOID:4787/inferred", source="MONDO:Redundant", source="NCIT:C5436"} ! infratentorial cancer

[Term]
id: MONDO:0003142
name: intracranial primitive neuroectodermal tumor
def: "A primitive neuroectodermal tumor that involves the brain." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "brain primitive neuroectodermal tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "brain primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "intracranial embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5817]
synonym: "intracranial embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5817]
synonym: "intracranial PNET" EXACT [DOID:4788, NCIT:C5817]
synonym: "intracranial primitive neuroectodermal neoplasm" EXACT [NCIT:C5817]
synonym: "intracranial primitive neuroectodermal tumor" EXACT [NCIT:C5817]
synonym: "primitive neuroectodermal tumor of brain" EXACT [MONDO:design_pattern]
synonym: "primitive neuroectodermal tumour of brain" EXACT OMO:0003005 []
xref: DOID:4788 {source="MONDO:equivalentTo"}
xref: MEDGEN:272770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5817 {source="MONDO:equivalentTo", source="DOID:4788"}
xref: UMLS:C1334246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272770"}
is_a: MONDO:0000640 {source="DOID:4788", source="MONDO:Redundant", source="NCIT:C5817"} ! central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0001657 {source="MONDO:Redundant", source="NCIT:C5817"} ! brain cancer
intersection_of: MONDO:0005462 ! primitive neuroectodermal tumor
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0003143
name: angiokeratoma
def: "A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli)." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "angiokeratoma (morphologic abnormality)" EXACT [DOID:479]
synonym: "angiokeratoma of skin" EXACT [NCIT:C4488]
synonym: "angiokeratoma of the skin" EXACT [NCIT:C4488]
synonym: "cutaneous angiokeratoma" EXACT [DOID:479, NCIT:C4488]
synonym: "skin angiokeratoma" EXACT [DOID:479]
xref: CSP:2007-0683 {source="DOID:479"}
xref: DOID:479 {source="MONDO:equivalentTo"}
xref: MEDGEN:1542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000794 {source="DOID:479", source="MONDO:equivalentTo"}
xref: NCIT:C2874 {source="DOID:479", source="MONDO:equivalentTo"}
xref: NCIT:C4488 {source="DOID:479", source="MONDO:equivalentTo"}
xref: SCTID:254788004 {source="DOID:479", source="MONDO:equivalentTo"}
xref: SCTID:26810009 {source="DOID:479"}
xref: UMLS:C0002985 {source="MEDGEN:1542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003110 {source="DOID:479"} ! skin hemangioma

[Term]
id: MONDO:0003144
name: medulloepithelioma
def: "A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting." [NCIT:C4327]
subset: gard_rare {source="GARD:20721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "central nervous system medulloepithelioma" EXACT [NCIT:C4327]
synonym: "Diktyoma, malignant" EXACT [DOID:4790]
synonym: "MDEP" RELATED ABBREVIATION [ONCOTREE:MDEP]
synonym: "medulloepithelioma NOS (morphologic abnormality)" EXACT [DOID:4790]
synonym: "medulloepithelioma of the central nervous system" EXACT [MONDO:0016716]
synonym: "medulloepithelioma, central nervous system" EXACT [DOID:4790, NCIT:C4327]
xref: DOID:4790 {source="MONDO:equivalentTo"}
xref: GARD:20721 {source="MONDO:GARD"}
xref: MEDGEN:1702218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018242 {source="DOID:4790"}
xref: NCIT:C4327 {source="MONDO:equivalentTo", source="DOID:4790"}
xref: NCIT:C66808 {source="DOID:4790"}
xref: ONCOTREE:MDEP {source="MONDO:equivalentTo"}
xref: Orphanet:251883 {source="MONDO:equivalentTo"}
xref: SCTID:189932005 {source="DOID:4790"}
xref: SCTID:39005004 {source="DOID:4790"}
xref: SCTID:715903004 {source="MONDO:equivalentTo"}
xref: UMLS:C5231013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1702218"}
is_a: MONDO:0016713 {source="Orphanet:251883"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
relationship: excluded_subClassOf MONDO:0000640 {source="DOID:4790", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system primitive neuroectodermal neoplasm

[Term]
id: MONDO:0003145
name: supratentorial primitive neuroectodermal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." [NCIT:P378]
synonym: "CNS/supratentorial PNET" EXACT [NCIT:C6968]
synonym: "supratent. primitive neuro. tumor" EXACT [NCIT:C6968]
synonym: "supratent. primitive neuro. tumour" EXACT OMO:0003005 []
synonym: "supratentorial embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C6968]
synonym: "supratentorial embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C6968]
synonym: "supratentorial PNET" EXACT [DOID:4791, NCIT:C6968]
synonym: "supratentorial primitive neuroectodermal tumor" EXACT [NCIT:C6968]
xref: DOID:4791 {source="MONDO:equivalentTo"}
xref: ICD9:209.30 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:234914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6968 {source="MONDO:equivalentTo", source="DOID:4791"}
xref: SCTID:39781001 {source="DOID:4791"}
xref: SCTID:699318007 {source="MONDO:equivalentTo", source="DOID:4791"}
xref: UMLS:C1336538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234914"}
is_a: MONDO:0002071 {source="DOID:4791", source="NCIT:C6968"} ! supratentorial cancer

[Term]
id: MONDO:0003146
name: obsolete ependymoblastoma
is_obsolete: true
replaced_by: MONDO:0016715

[Term]
id: MONDO:0003147
name: space motion sickness
def: "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" [MESH:D018489]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adaptation syndrome, Space" EXACT [MESH:D018489]
synonym: "motion sickness, Space" EXACT [MESH:D018489]
synonym: "Space adaptation syndrome" EXACT [MESH:D018489]
synonym: "syndrome, Space adaptation" EXACT [MESH:D018489]
xref: DOID:4796 {source="MONDO:equivalentTo"}
xref: MEDGEN:116642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018489 {source="DOID:4796", source="MONDO:equivalentTo"}
xref: SCTID:21162009 {source="DOID:4796"}
xref: UMLS:C0242700 {source="MEDGEN:116642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008015 {source="DOID:4796", source="EFO:1001188", source="MESH:D018489"} ! motion sickness

[Term]
id: MONDO:0003148
name: obsolete SM-AHNMD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1270" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020332

[Term]
id: MONDO:0003149
name: obsolete aggressive systemic mastocytosis
is_obsolete: true
replaced_by: MONDO:0020333

[Term]
id: MONDO:0003150
name: male reproductive system disorder
def: "A disease involving the male reproductive system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of male reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of male reproductive system" EXACT []
synonym: "disorder of Male reproductive system" EXACT [NCIT:C27019]
synonym: "disorder of male reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "male reproductive disease" EXACT [DOID:48]
synonym: "Male reproductive system disease" EXACT [NCIT:C27019]
synonym: "male reproductive system disease" EXACT [MONDO:patterns/location]
synonym: "male reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Male reproductive system disorder" EXACT [NCIT:C27019]
xref: DOID:48 {source="MONDO:equivalentTo"}
xref: EFO:0009555 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N40-N53 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:N50.9 {source="DOID:48"}
xref: ICD10WHO:N40-N51 {source="MONDO:equivalentTo"}
xref: ICD9:600-608.99 {source="DOID:48"}
xref: ICD9:608.9 {source="DOID:48"}
xref: MEDGEN:66734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005832 {source="DOID:48", source="MONDO:equivalentTo"}
xref: NCIT:C27019 {source="MONDO:equivalentTo"}
xref: SCTID:155905004 {source="DOID:48"}
xref: SCTID:155933004 {source="DOID:48"}
xref: SCTID:155945008 {source="DOID:48"}
xref: SCTID:198089001 {source="DOID:48"}
xref: SCTID:198553004 {source="DOID:48"}
xref: SCTID:363194005 {source="MONDO:equivalentTo"}
xref: SCTID:64557000 {source="DOID:48"}
xref: UMLS:C0236099 {source="MEDGEN:66734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="DOID:48", source="MONDO:Redundant", source="NCIT:C27019"} ! reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000079 ! male reproductive system

[Term]
id: MONDO:0003151
name: obsolete movement disease
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0003152
name: adult brainstem gliosarcoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult brain stem gliosarcoma" EXACT [DOID:4812, NCIT:C9370]
synonym: "adult brainstem gliosarcoma" EXACT [NCIT:C9370]
xref: DOID:4812 {source="MONDO:equivalentTo"}
xref: MEDGEN:277992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9370 {source="MONDO:equivalentTo", source="DOID:4812"}
xref: UMLS:C1377914 {source="MEDGEN:277992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003153 {source="DOID:4812", source="NCIT:C9370"} ! adult brainstem glioma

[Term]
id: MONDO:0003153
name: adult brainstem glioma
def: "A brain stem glioma that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult brain stem glioma" EXACT [NCIT:C9091]
synonym: "adult brainstem glioma" EXACT [NCIT:C9091]
synonym: "adult brainstem neuroglial neoplasm" EXACT [NCIT:C9091]
synonym: "adult brainstem neuroglial tumor" EXACT [DOID:4813, NCIT:C9091]
synonym: "adult brainstem neuroglial tumour" EXACT OMO:0003005 []
synonym: "brain stem glioma" BROAD [NCIT:C9091]
synonym: "brain stem glioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "glioma of adult brain stem" EXACT [NCIT:C9091]
synonym: "glioma of the adult brain stem" EXACT [NCIT:C9091]
xref: DOID:4813 {source="MONDO:equivalentTo"}
xref: MEDGEN:124526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9091 {source="MONDO:equivalentTo", source="DOID:4813"}
xref: UMLS:C0278873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124526"}
is_a: MONDO:0002911 {source="DOID:4813", source="MONDO:Redundant", source="NCIT:C9091"} ! brain stem glioma
intersection_of: MONDO:0002911 ! brain stem glioma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003154
name: hemangioma of peripheral nerve
def: "A hemangioma arising from the peripheral nerves." [NCIT:C27507]
synonym: "hemangioma of nerve" EXACT [MONDO:design_pattern]
synonym: "hemangioma of peripheral nerve" EXACT [NCIT:C27507]
synonym: "nerve hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:482 {source="MONDO:equivalentTo"}
xref: MEDGEN:232595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27507 {source="MONDO:equivalentTo", source="DOID:482", source="MONDO:exact-label-match"}
xref: UMLS:C1333956 {source="MEDGEN:232595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001406 {source="MONDO:Redundant", source="NCIT:C27507"} ! peripheral nervous system neoplasm
is_a: MONDO:0006500 {source="DOID:482", source="MONDO:Redundant", source="NCIT:C27507"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0001021 ! nerve

[Term]
id: MONDO:0003155
name: cavernous hemangioma
alt_id: MONDO:0006124
def: "A hemangioma characterized by the presence of cavernous vascular spaces." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cavernoma" EXACT [DOID:483, NCIT:C3086]
synonym: "cavernous angioma" EXACT [NCIT:C3086]
synonym: "cavernous haemangioma" EXACT [DOID:483]
synonym: "cavernous hemangioma" EXACT [NCIT:C3086]
synonym: "cavernous hemangioma (morphologic abnormality)" EXACT [DOID:483]
xref: DOID:483 {source="MONDO:equivalentTo"}
xref: EFO:1000151 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001048 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D18.0 {source="DOID:483"}
xref: ICDO:9121/0 {source="NCIT:C3086"}
xref: MEDGEN:9184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006392 {source="MONDO:equivalentTo", source="DOID:483"}
xref: NCIT:C3086 {source="EFO:1000151", source="MONDO:equivalentTo", source="DOID:483"}
xref: SCTID:157014007 {source="DOID:483"}
xref: SCTID:189192007 {source="DOID:483"}
xref: SCTID:254781005 {source="DOID:483"}
xref: SCTID:33377007 {source="DOID:483"}
xref: SCTID:416824008 {source="MONDO:equivalentTo", source="DOID:483"}
xref: SCTID:56975005 {source="DOID:483", source="MONDO:directSiblingOf"}
xref: SCTID:67668002 {source="DOID:483"}
xref: UMLS:C0018920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9184"}
is_a: MONDO:0003159 {source="DOID:483", source="MESH:D006392"} ! vascular hemostatic disease
is_a: MONDO:0006500 {source="EFO:1000151", source="MESH:D006392", source="NCIT:C3086"} ! hemangioma

[Term]
id: MONDO:0003156
name: obsolete adenosquamous carcinoma
is_obsolete: true
replaced_by: MONDO:0006074

[Term]
id: MONDO:0003157
name: disappearing bone disease
def: "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." [MESH:D010015]
subset: otar {source="MONDO:OTAR"}
synonym: "essential osteolysis" EXACT [DOID:4837]
synonym: "Gorham disease" RELATED EXCLUDE [DOID:4837]
synonym: "Gorham's disease" RELATED [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gorham-Stout syndrome" RELATED [DOID:4837]
synonym: "massive osteolysis" RELATED [DOID:4837]
synonym: "phantom bone disease" EXACT [DOID:4837]
xref: DOID:4837 {source="MONDO:equivalentTo"}
xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010015 {source="DOID:4837"}
xref: NANDO:1200878 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200880 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:240161003 {source="MONDO:equivalentTo", source="DOID:4837"}
xref: UMLS:C0029436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45247"}
is_a: MONDO:0002254 {source="DOID:4837"} ! syndromic disease
relationship: disease_has_feature HP:0002797 ! Osteolysis

[Term]
id: MONDO:0003158
name: malignant myoepithelioma
def: "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C7596]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant myoepithelioma" EXACT [GARD:0010558, NCIT:C7596]
synonym: "myoepithelial carcinoma" EXACT [NCIT:C7596]
synonym: "myoepithelioma carcinoma" RELATED [GARD:0010558]
synonym: "myoepithelioma, malignant" EXACT [NCIT:C7596]
synonym: "soft tissue myoepithelial carcinoma" RELATED [ONCOTREE:STMYEC]
xref: DOID:4838 {source="MONDO:equivalentTo"}
xref: ICDO:8982/3 {source="NCIT:C7596"}
xref: MEDGEN:90822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7596 {source="MONDO:equivalentTo", source="DOID:4838"}
xref: ONCOTREE:STMYEC {source="MONDO:equivalentTo"}
xref: SCTID:128884000 {source="DOID:4838"}
xref: SCTID:24292006 {source="DOID:4838"}
xref: UMLS:C0334699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90822"}
is_a: MONDO:0002380 {source="NCIT:C7596"} ! myoepithelial tumor
is_a: MONDO:0004993 {source="DOID:4838", source="NCIT:C7596"} ! carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma" xsd:anyURI {source="GARD:0010558"}

[Term]
id: MONDO:0003159
name: vascular hemostatic disease
def: "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets." [MESH:D020141]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder, vascular hemostatic" EXACT [MESH:D020141]
synonym: "disorders, vascular hemostatic" EXACT [MESH:D020141]
synonym: "hemostatic disorder" EXACT [MESH:D020141]
synonym: "hemostatic disorder, vascular" EXACT [MESH:D020141]
synonym: "hemostatic disorders, vascular" EXACT [MESH:D020141]
synonym: "vascular hemostatic disorder" EXACT [MESH:D020141]
synonym: "vascular hemostatic disorders" EXACT [MESH:D020141]
xref: DOID:484 {source="MONDO:equivalentTo"}
xref: MEDGEN:154721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020141 {source="MONDO:equivalentTo", source="DOID:484"}
xref: SCTID:21112004 {source="MONDO:equivalentTo", source="DOID:484"}
xref: UMLS:C0600502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154721"}
is_a: MONDO:0002243 {source="DOID:484", source="MESH:D020141", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemorrhagic disease
is_a: MONDO:0005385 {source="MESH:D020141"} ! vascular disorder
intersection_of: MONDO:0002243 ! hemorrhagic disease
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0035965 ! wall of blood vessel

[Term]
id: MONDO:0003160
name: obsolete sebaceous carcinoma
def: "OBSOLETE. An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." [NCIT:C40310]
is_obsolete: true
replaced_by: MONDO:0006962

[Term]
id: MONDO:0003161
name: obsolete benign ependymoma
is_obsolete: true
replaced_by: MONDO:0016698

[Term]
id: MONDO:0003162
name: obsolete pilomyxoid astrocytoma
is_obsolete: true
replaced_by: MONDO:0016692

[Term]
id: MONDO:0003163
name: cauda equina intradural extramedullary astrocytoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intradural extramedullary astrocytic tumor of the Cauda equina" EXACT [DOID:4846, NCIT:C5408]
synonym: "intradural extramedullary astrocytic tumour of the Cauda equina" EXACT OMO:0003005 []
synonym: "intradural extramedullary astrocytoma of Cauda equina" EXACT [NCIT:C5408]
synonym: "intradural extramedullary astrocytoma of the Cauda equina" EXACT [NCIT:C5408]
synonym: "intradural extramedullary Cauda equina astrocytoma" EXACT [NCIT:C5408]
xref: DOID:4846 {source="MONDO:equivalentTo"}
xref: MEDGEN:235225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5408 {source="MONDO:equivalentTo", source="DOID:4846"}
xref: UMLS:C1334254 {source="MONDO:equivalentTo", source="MEDGEN:235225", source="MONDO:MEDGEN"}
is_a: MONDO:0003164 {source="DOID:4846", source="NCIT:C5408"} ! cauda equina neoplasm
is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C5408"} ! astrocytoma (excluding glioblastoma)

[Term]
id: MONDO:0003164
name: cauda equina neoplasm
def: "A neoplasm involving a cauda equina." [MONDO:patterns/neoplasm]
synonym: "cauda equina neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Cauda equina neoplasms" EXACT [NCIT:C5479]
synonym: "cauda equina tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cauda equina tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cauda equina" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Cauda equina" EXACT [NCIT:C5479]
synonym: "tumor of Cauda equina" EXACT [NCIT:C5479]
synonym: "tumor of cauda equina" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Cauda equina" EXACT [DOID:4847, NCIT:C5479]
synonym: "tumour of Cauda equina" EXACT OMO:0003005 []
synonym: "tumour of cauda equina" EXACT OMO:0003005 []
synonym: "tumour of the Cauda equina" EXACT OMO:0003005 []
xref: DOID:4847 {source="MONDO:equivalentTo"}
xref: MEDGEN:220390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5479 {source="MONDO:equivalentTo", source="DOID:4847"}
xref: SCTID:126963001 {source="MONDO:equivalentTo", source="DOID:4847"}
xref: UMLS:C1263892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220390"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0012337 ! cauda equina
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:4847", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer

[Term]
id: MONDO:0003165
name: cerebellar astrocytoma
def: "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative." [NCIT:C9475]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma (excluding glioblastoma) of cerebellum" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of cerebellum" EXACT [DOID:4848, NCIT:C9475]
synonym: "astrocytoma of the cerebellum" EXACT [NCIT:C9475]
synonym: "astrocytoma, cerebellar" EXACT [NCIT:C9475]
synonym: "cerebellar astrocytoma" EXACT [NCIT:C9475]
synonym: "cerebellum astrocytoma" EXACT [MONDO:patterns/location]
synonym: "cerebellum astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4848 {source="MONDO:equivalentTo"}
xref: MEDGEN:196631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9475 {source="MONDO:equivalentTo", source="DOID:4848"}
xref: UMLS:C0740480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196631"}
is_a: MONDO:0002913 {source="DOID:4848", source="MONDO:Redundant"} ! cerebellar neoplasm
is_a: MONDO:0019781 {source="DOID:4848", source="MONDO:Redundant", source="NCIT:C9475/inferred"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C9475"} ! brain astrocytoma
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0002037 ! cerebellum
relationship: excluded_subClassOf MONDO:0005499 {source="DOID:4848", source="https://orcid.org/0000-0001-5208-3432"} ! brain glioma

[Term]
id: MONDO:0003166
name: obsolete pilocytic astrocytoma
is_obsolete: true
replaced_by: MONDO:0016691

[Term]
id: MONDO:0003167
name: obsolete pleomorphic xanthoastrocytoma
is_obsolete: true
replaced_by: MONDO:0016690

[Term]
id: MONDO:0003168
name: cerebellar pilocytic astrocytoma
def: "A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis." [NCIT:C6809]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar pilocytic astrocytoma" EXACT [DOID:4853, NCIT:C6809]
synonym: "cerebellum pilocytic astrocytoma" EXACT [MONDO:patterns/location]
synonym: "pilocytic astrocytoma of cerebellum" EXACT [NCIT:C6809]
synonym: "pilocytic astrocytoma of the cerebellum" EXACT [NCIT:C6809]
xref: DOID:4853 {source="MONDO:equivalentTo"}
xref: MEDGEN:91158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6809 {source="DOID:4853", source="MONDO:equivalentTo"}
xref: SCTID:277507004 {source="DOID:4853", source="MONDO:equivalentTo"}
xref: UMLS:C0349620 {source="MEDGEN:91158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003165 {source="DOID:4853", source="MONDO:Redundant", source="NCIT:C6809"} ! cerebellar astrocytoma
is_a: MONDO:0016691 {source="DOID:4853", source="MONDO:Redundant", source="NCIT:C6809"} ! pilocytic astrocytoma
is_a: MONDO:0021499 {source="NCIT:C6809"} ! benign neoplasm of cerebellum
intersection_of: MONDO:0016691 ! pilocytic astrocytoma
intersection_of: disease_has_location UBERON:0002037 ! cerebellum

[Term]
id: MONDO:0003169
name: diencephalic astrocytomas
def: "A astrocytoma that involves the diencephalon." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma (excluding glioblastoma) of diencephalon" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of diencephalon" EXACT [DOID:4855, NCIT:C5128]
synonym: "astrocytoma of the diencephalon" EXACT [NCIT:C5128]
synonym: "diencephalic astrocytoma" EXACT [NCIT:C5128]
synonym: "diencephalon astrocytoma" EXACT [MONDO:patterns/location]
synonym: "diencephalon astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4855 {source="MONDO:equivalentTo"}
xref: MEDGEN:272542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5128 {source="DOID:4855", source="MONDO:equivalentTo"}
xref: UMLS:C1333284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272542"}
is_a: MONDO:0002786 {source="DOID:4855", source="MONDO:Entailed", source="MONDO:Redundant"} ! diencephalic cancer
is_a: MONDO:0005499 {source="DOID:4855", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0019781 {source="DOID:4855", source="MONDO:Redundant", source="NCIT:C5128/inferred"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C5128"} ! brain astrocytoma
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0001894 ! diencephalon

[Term]
id: MONDO:0003170
name: gliofibroma
def: "An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma)." [NCIT:C5419]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gliofibroma (morphologic abnormality)" EXACT [DOID:4856]
xref: DOID:4856 {source="MONDO:equivalentTo"}
xref: ICDO:9442/1 {source="NCIT:C5419"}
xref: MEDGEN:226850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5419 {source="MONDO:equivalentTo", source="DOID:4856", source="MONDO:exact-label-match"}
xref: SCTID:128909006 {source="DOID:4856"}
xref: UMLS:C1266178 {source="MEDGEN:226850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021636 {source="DOID:4856", source="NCIT:C5419"} ! astrocytic tumor
relationship: excluded_subClassOf MONDO:0019781 {source="DOID:4856", source="https://orcid.org/0000-0001-5208-3432"} ! astrocytoma (excluding glioblastoma)

[Term]
id: MONDO:0003171
name: pineal gland astrocytoma
def: "A astrocytoma that involves the pineal body." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "astrocytoma (excluding glioblastoma) of pineal body" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of pineal gland" EXACT [NCIT:C8274]
synonym: "astrocytoma of the pineal gland" EXACT [NCIT:C8274]
synonym: "pineal astrocytic tumor" EXACT [DOID:4858, NCIT:C8274]
synonym: "pineal astrocytic tumour" EXACT OMO:0003005 []
synonym: "pineal astrocytoma" EXACT [NCIT:C8274]
synonym: "pineal body astrocytoma" EXACT [MONDO:patterns/location]
synonym: "pineal body astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4858 {source="MONDO:equivalentTo"}
xref: MEDGEN:83711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8274 {source="MONDO:equivalentTo", source="DOID:4858"}
xref: UMLS:C0280795 {source="MEDGEN:83711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003249 {source="DOID:4858", source="MONDO:Entailed", source="MONDO:Redundant"} ! pineal gland cancer
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0003172
name: glomeruloid hemangioma
xref: DOID:486 {source="MONDO:equivalentTo"}
xref: MEDGEN:224917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27505 {source="MONDO:equivalentTo", source="DOID:486"}
xref: SCTID:403976007 {source="MONDO:equivalentTo", source="DOID:486"}
xref: UMLS:C1304511 {source="MEDGEN:224917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:486"} ! hemangioma

[Term]
id: MONDO:0003173
name: brain stem astrocytic neoplasm
def: "An astrocytoma that arises from the brain stem." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma (excluding glioblastoma) of brainstem" EXACT [MONDO:design_pattern]
synonym: "brain stem astrocytoma" EXACT [NCIT:C7445]
synonym: "brainstem astrocytoma" EXACT [DOID:4860, MONDO:patterns/location, NCIT:C7445]
synonym: "brainstem astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4860 {source="MONDO:equivalentTo"}
xref: MEDGEN:231458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7445 {source="DOID:4860", source="MONDO:equivalentTo"}
xref: SCTID:107581000119103 {source="DOID:4860", source="MONDO:equivalentTo"}
xref: UMLS:C1332608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231458"}
is_a: MONDO:0002911 {source="DOID:4860", source="NCIT:C7445"} ! brain stem glioma
is_a: MONDO:0019781 {source="DOID:4860", source="MONDO:Redundant", source="NCIT:C7445/inferred"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C7445"} ! brain astrocytoma
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0002298 ! brainstem

[Term]
id: MONDO:0003174
name: spinal cord astrocytoma
def: "A low or high grade astrocytoma that arises in the spinal cord." [NCIT:C4641]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma (excluding glioblastoma) of spinal cord" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of spinal cord" EXACT [NCIT:C4641]
synonym: "astrocytoma of the spinal cord" EXACT [NCIT:C4641]
synonym: "spinal astrocytoma" EXACT [DOID:4863, NCIT:C4641]
synonym: "spinal cord astrocytoma" EXACT [MONDO:patterns/location, NCIT:C4641]
synonym: "spinal cord astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: DOID:4863 {source="MONDO:equivalentTo"}
xref: EFO:1000544 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4641 {source="DOID:4863", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:254948003 {source="DOID:4863", source="MONDO:equivalentTo"}
xref: UMLS:C0349540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91152"}
is_a: MONDO:0002542 {source="DOID:4863", source="NCIT:C4641"} ! spinal cord glioma
is_a: MONDO:0019781 {source="DOID:4863", source="MONDO:Redundant", source="NCIT:C4641"} ! astrocytoma (excluding glioblastoma)
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0003175
name: salivary gland adenoid cystic carcinoma
def: "An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver." [NCIT:C8026]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic cancer" BROAD [DOID:4866, NCIT:C2970]
synonym: "adenoid cystic carcinoma" BROAD EXCLUDE [DOID:4866]
synonym: "adenoid cystic carcinoma (morphologic abnormality)" BROAD [DOID:4866]
synonym: "adenoid cystic carcinoma of salivary gland" EXACT [NCIT:C8026]
synonym: "adenoid cystic carcinoma of the salivary gland" EXACT [NCIT:C8026]
synonym: "cylindroma" RELATED EXCLUDE [DOID:4866]
synonym: "cylindroma (morphologic abnormality)" EXACT [DOID:4866]
synonym: "cylindroma NOS" RELATED EXCLUDE [DOID:4866]
synonym: "saliva-secreting gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland adenoid cystic cancer" EXACT [NCIT:C8026]
synonym: "salivary gland adenoid cystic carcinoma" EXACT [NCIT:C8026]
xref: DOID:4866 {source="MONDO:equivalentTo"}
xref: MEDGEN:79034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003528 {source="DOID:4866"}
xref: NCIT:C8026 {source="MONDO:equivalentTo"}
xref: SCTID:11671000 {source="DOID:4866"}
xref: SCTID:189594000 {source="DOID:4866"}
xref: SCTID:302827006 {source="DOID:4866"}
xref: SCTID:422833009 {source="MONDO:equivalentTo"}
xref: UMLS:C0279751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79034"}
is_a: MONDO:0000521 {source="DOID:4866", source="MONDO:Redundant", source="NCIT:C8026"} ! salivary gland carcinoma
is_a: MONDO:0004971 {source="MONDO:Redundant", source="NCIT:C8026"} ! adenoid cystic carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0003176
name: obsolete cervical adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006133

[Term]
id: MONDO:0003177
name: prostate adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the prostate gland." [NCIT:C5539]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenoid cystic carcinoma of prostate" EXACT [DOID:4868, NCIT:C5539]
synonym: "adenoid cystic carcinoma of the prostate" EXACT [DOID:4868, NCIT:C5539]
synonym: "prostate adenoid cystic carcinoma" EXACT [NCIT:C5539]
synonym: "prostate gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4868 {source="MONDO:equivalentTo"}
xref: MEDGEN:233352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5539 {source="MONDO:equivalentTo", source="DOID:4868", source="MONDO:exact-label-match"}
xref: UMLS:C1335502 {source="MEDGEN:233352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004971 {source="MONDO:Redundant", source="NCIT:C5539"} ! adenoid cystic carcinoma
is_a: MONDO:0005159 {source="DOID:4868", source="MONDO:Entailed", source="NCIT:C5539/inferred"} ! prostate carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0003178
name: obsolete laryngeal adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006264

[Term]
id: MONDO:0003179
name: obsolete lacrimal gland adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006262

[Term]
id: MONDO:0003180
name: cutaneous adenocystic carcinoma
def: "A adenoid cystic carcinoma that involves the skin of body." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of skin" EXACT [NCIT:C4471]
synonym: "adenoid cystic carcinoma of the skin" EXACT [DOID:4871, NCIT:C4471]
synonym: "adenoid cystic cutaneous carcinoma" EXACT [NCIT:C4471]
synonym: "adenoid cystic eccrine carcinoma" EXACT [DOID:4871]
synonym: "adenoid cystic eccrine carcinoma (morphologic abnormality)" EXACT [DOID:4871]
synonym: "adenoid cystic eccrine carcinoma of skin" EXACT [DOID:4871]
synonym: "adenoid cystic skin carcinoma" EXACT [NCIT:C4471]
synonym: "primary cutaneous adenocystic carcinoma" EXACT [NCIT:C4471]
synonym: "skin of body adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4871 {source="MONDO:equivalentTo"}
xref: MEDGEN:91071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4471 {source="DOID:4871", source="MONDO:equivalentTo"}
xref: SCTID:254711000 {source="DOID:4871", source="MONDO:equivalentTo"}
xref: SCTID:399968001 {source="DOID:4871"}
xref: UMLS:C0346017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91071"}
is_a: MONDO:0002656 {source="DOID:4871", source="MONDO:Redundant", source="NCIT:C4471/inferred"} ! skin carcinoma
is_a: MONDO:0004971 {source="MONDO:Redundant", source="NCIT:C4471"} ! adenoid cystic carcinoma
is_a: MONDO:0005524 {source="NCIT:C4471"} ! sweat gland carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0002097 ! skin of body

[Term]
id: MONDO:0003181
name: lung adenoid cystic carcinoma
def: "A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain." [NCIT:C5666]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocystic carcinoma of lung" EXACT [NCIT:C5666]
synonym: "adenocystic carcinoma of the lung" EXACT [NCIT:C5666]
synonym: "adenoid cystic carcinoma of lung" EXACT [DOID:4872, NCIT:C5666]
synonym: "adenoid cystic carcinoma of the lung" EXACT [NCIT:C5666]
synonym: "LUACC" RELATED ABBREVIATION [ONCOTREE:LUACC]
synonym: "lung adenocystic carcinoma" EXACT [NCIT:C5666]
synonym: "lung adenoid cystic cancer" EXACT [NCIT:C5666]
synonym: "lung adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C5666]
synonym: "pulmonary adenocystic carcinoma" EXACT [NCIT:C5666]
synonym: "pulmonary adenoid cystic carcinoma" EXACT [DOID:4872, NCIT:C5666]
xref: DOID:4872 {source="MONDO:equivalentTo"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:232709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5666 {source="DOID:4872", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:LUACC {source="MONDO:equivalentTo"}
xref: SCTID:707466008 {source="MONDO:equivalentTo"}
xref: UMLS:C1334439 {source="MEDGEN:232709", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004971 {source="MONDO:Redundant", source="NCIT:C5666"} ! adenoid cystic carcinoma
is_a: MONDO:0005138 {source="DOID:4872", source="MONDO:Entailed", source="NCIT:C5666"} ! lung carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003182
name: anterior horn disorder
def: "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." [Wikipedia:Anterior_horn_disease]
comment: TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND
synonym: "disease of ventral horn of spinal cord" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ventral horn of spinal cord" EXACT []
synonym: "disorder of ventral horn of spinal cord" EXACT [MONDO:patterns/location_top]
synonym: "ventral horn of spinal cord disease" EXACT [MONDO:patterns/location]
synonym: "ventral horn of spinal cord disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:4873 {source="MONDO:equivalentTo"}
xref: ICD9:335 {source="DOID:4873"}
xref: ICD9:335.9 {source="DOID:4873", source="MONDO:relatedTo"}
xref: MEDGEN:102314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016472 {source="DOID:4873", source="MONDO:relatedTo"}
xref: SCTID:155014006 {source="DOID:4873"}
xref: SCTID:192884004 {source="DOID:4873"}
xref: SCTID:192892008 {source="DOID:4873"}
xref: SCTID:267693003 {source="DOID:4873"}
xref: SCTID:85672005 {source="DOID:4873", source="MONDO:relatedTo"}
xref: UMLS:C0154681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102314"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002257 ! ventral horn of spinal cord

[Term]
id: MONDO:0003183
name: obsolete trachea adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006471

[Term]
id: MONDO:0003184
name: trachea carcinoma
def: "A carcinoma that arises from epithelial cells of the trachea." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of the trachea" EXACT [NCIT:C9347]
synonym: "cancer of trachea" BROAD [NCIT:C9347]
synonym: "carcinoma of the trachea" EXACT [DOID:4876, NCIT:C9347]
synonym: "carcinoma of trachea" EXACT [MONDO:patterns/carcinoma, NCIT:C9347]
synonym: "Pancoast's tumor" RELATED EXCLUDE [DOID:4876]
synonym: "Pancoast's tumour" RELATED OMO:0003005 []
synonym: "trachea cancer" BROAD [NCIT:C9347]
synonym: "trachea carcinoma" EXACT [MONDO:patterns/location, NCIT:C9347]
synonym: "tracheal carcinoma" EXACT [NCIT:C9347]
xref: DOID:4876 {source="MONDO:equivalentTo"}
xref: EFO:1000599 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:315650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9347 {source="MONDO:equivalentTo", source="EFO:1000599"}
xref: SCTID:154486000 {source="DOID:4876"}
xref: SCTID:269562004 {source="DOID:4876"}
xref: UMLS:C1744708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:315650"}
is_a: MONDO:0001407 {source="DOID:4876", source="MONDO:Redundant", source="NCIT:C9347"} ! tracheal cancer
is_a: MONDO:0004993 {source="DOID:4876", source="EFO:1000599", source="MONDO:Redundant", source="NCIT:C9347"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0003185
name: adenoid cystic breast carcinoma
def: "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." [NCIT:C5130]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocystic breast carcinoma" EXACT [NCIT:C5130]
synonym: "adenocystic carcinoma of breast" EXACT [NCIT:C5130]
synonym: "adenocystic carcinoma of the breast" EXACT [NCIT:C5130]
synonym: "adenoid cystic breast cancer" RELATED [ONCOTREE:ACBC]
synonym: "adenoid cystic breast carcinoma" EXACT [MONDO:0006072, NCIT:C5130]
synonym: "adenoid cystic carcinoma of breast" EXACT [DOID:4877, NCIT:C5130]
synonym: "adenoid cystic carcinoma of the breast" EXACT [NCIT:C5130]
synonym: "breast adenoid cystic carcinoma" EXACT [DOID:4877, MONDO:patterns/location]
synonym: "mammary adenocystic carcinoma" EXACT [DOID:4877, NCIT:C5130]
synonym: "mammary adenoid cystic carcinoma" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:4877 {source="MONDO:equivalentTo"}
xref: EFO:1000071 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:231031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5130 {source="DOID:4877", source="MONDO:equivalentTo", source="EFO:1000071"}
xref: ONCOTREE:ACBC {source="MONDO:equivalentTo"}
xref: UMLS:C1332167 {source="MEDGEN:231031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004971 {source="EFO:1000071", source="MONDO:Redundant", source="NCIT:C5130"} ! adenoid cystic carcinoma
is_a: MONDO:0004989 {source="DOID:4877", source="EFO:1000071", source="MONDO:Redundant", source="NCIT:C5130/inferred"} ! breast carcinoma
is_a: MONDO:0006256 {source="NCIT:C5130", source="ONCOTREE:ACBC"} ! invasive breast carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0003186
name: esophageal adenoid cystic carcinoma
def: "An infrequent esophageal carcinoma arising from esophageal glands. (WHO)" [NCIT:C5342]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenoid cystic carcinoma of esophagus" EXACT [NCIT:C5342]
synonym: "adenoid cystic carcinoma of oesophagus" EXACT OMO:0003005 []
synonym: "adenoid cystic carcinoma of the esophagus" EXACT [NCIT:C5342]
synonym: "adenoid cystic carcinoma of the oesophagus" EXACT OMO:0003005 []
synonym: "adenoid cystic carcinoma, esophagus" EXACT [DOID:4878, NCIT:C5342]
synonym: "adenoid cystic carcinoma, oesophagus" EXACT OMO:0003005 []
synonym: "adenoid cystic esophagus carcinoma" EXACT [NCIT:C5342]
synonym: "adenoid cystic oesophagus carcinoma" EXACT OMO:0003005 []
synonym: "esophageal adenoid cystic cancer" EXACT [NCIT:C5342]
synonym: "esophageal adenoid cystic carcinoma" EXACT [NCIT:C5342]
synonym: "esophagus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C5342]
synonym: "oesophagus adenoid cystic carcinoma" EXACT OMO:0003005 []
xref: DOID:4878 {source="MONDO:equivalentTo"}
xref: MEDGEN:232468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5342 {source="MONDO:equivalentTo", source="DOID:4878", source="MONDO:exact-label-match"}
xref: UMLS:C1333441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232468"}
is_a: MONDO:0004971 {source="MONDO:Redundant", source="NCIT:C5342"} ! adenoid cystic carcinoma
is_a: MONDO:0019086 {source="DOID:4878", source="MONDO:Entailed", source="NCIT:C5342"} ! carcinoma of esophagus
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0003187
name: Bartholin gland adenoid cystic carcinoma
def: "A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Bartholin gland adenoid cystic carcinoma" EXACT [DOID:4879, NCIT:C40295]
synonym: "Bartholin's gland adenoid cystic carcinoma" EXACT [NCIT:C40295]
synonym: "major vestibular gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4879 {source="MONDO:equivalentTo"}
xref: MEDGEN:307247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40295 {source="MONDO:equivalentTo", source="DOID:4879"}
xref: UMLS:C1511047 {source="MEDGEN:307247", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002829 {source="DOID:4879", source="MONDO:Entailed", source="NCIT:C40295"} ! bartholin gland carcinoma
is_a: MONDO:0004971 {source="MONDO:Redundant", source="NCIT:C40295"} ! adenoid cystic carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0003188
name: obsolete juvenile myoclonic epilepsy
is_obsolete: true
replaced_by: MONDO:0009696

[Term]
id: MONDO:0003189
name: middle ear adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the middle ear" [https://orcid.org/0000-0002-6601-2165]
synonym: "adenocarcinoma of middle Ear" EXACT [NCIT:C6848]
synonym: "adenocarcinoma of middle ear" RELATED [DOID:4892]
synonym: "adenocarcinoma of the middle Ear" EXACT [NCIT:C6848]
synonym: "adenocarcinoma of the middle ear" EXACT [DOID:4892, NCIT:C6848]
synonym: "middle Ear adenocarcinoma" EXACT [NCIT:C6848]
synonym: "middle ear adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4892 {source="MONDO:equivalentTo"}
xref: MEDGEN:235326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6848 {source="DOID:4892", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235326"}
is_a: MONDO:0003190 {source="DOID:4892", source="MONDO:Redundant", source="NCIT:C6848"} ! middle ear carcinoma
is_a: MONDO:0004970 {source="DOID:4892", source="MONDO:Redundant", source="NCIT:C6848"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0003190
name: middle ear carcinoma
def: "A carcinoma that arises from epithelial cells of the middle ear" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of middle Ear" EXACT [NCIT:C6089]
synonym: "carcinoma of middle ear" EXACT [DOID:4893, MONDO:patterns/carcinoma]
synonym: "carcinoma of the middle Ear" EXACT [NCIT:C6089]
synonym: "carcinoma of the middle ear" EXACT [DOID:4893, NCIT:C6089]
synonym: "middle Ear carcinoma" EXACT [NCIT:C6089]
synonym: "middle ear carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4893 {source="MONDO:equivalentTo"}
xref: MEDGEN:233189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6089 {source="DOID:4893", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334760 {source="MEDGEN:233189", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C6089/inferred"} ! head and neck carcinoma
is_a: MONDO:0003275 {source="DOID:4893", source="MONDO:Redundant", source="NCIT:C6089"} ! middle ear cancer
is_a: MONDO:0004993 {source="DOID:4893", source="MONDO:Redundant", source="NCIT:C6089/inferred"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0003191
name: rete ovarii adenocarcinoma
def: "An exceptionally rare adenocarcinoma that arises from the rete ovarii." [NCIT:C40017]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "rete ovarii adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40017]
xref: DOID:4894 {source="MONDO:equivalentTo"}
xref: MEDGEN:826068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40017 {source="DOID:4894", source="MONDO:equivalentTo"}
xref: SCTID:703655009 {source="DOID:4894"}
xref: UMLS:C3840223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:826068"}
is_a: MONDO:0001416 {source="DOID:4894/inferred", source="MONDO:Redundant", source="NCIT:C40017"} ! female reproductive organ cancer
is_a: MONDO:0002752 {source="DOID:4894", source="MONDO:Entailed", source="MONDO:Redundant"} ! ovarian adenocarcinoma
is_a: MONDO:0003192 {source="MONDO:Redundant", source="NCIT:C40017"} ! rete ovarii neoplasm
is_a: MONDO:0004970 {source="DOID:4894/inferred", source="MONDO:Redundant", source="NCIT:C40017"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0010185 ! rete ovarii

[Term]
id: MONDO:0003192
name: rete ovarii neoplasm
def: "A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma." [NCIT:C40016]
synonym: "neoplasm of rete ovarii" EXACT [MONDO:patterns/neoplasm]
synonym: "rete ovarii neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "rete ovarii tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "rete ovarii tumour" EXACT OMO:0003005 []
synonym: "tumor of rete ovarii" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of rete ovarii" EXACT OMO:0003005 []
xref: DOID:4895 {source="MONDO:equivalentTo"}
xref: MEDGEN:271118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40016 {source="DOID:4895", source="MONDO:equivalentTo"}
xref: UMLS:C1514909 {source="MEDGEN:271118", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C40016"} ! female reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0010185 ! rete ovarii

[Term]
id: MONDO:0003193
name: bile duct adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the bile duct" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bile duct adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C27813]
xref: DOID:4896 {source="MONDO:equivalentTo"}
xref: MEDGEN:234585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27813 {source="DOID:4896", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:70179006 {source="DOID:4896"}
xref: UMLS:C1370800 {source="MEDGEN:234585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:4896", source="MONDO:Entailed", source="NCIT:C27813"} ! adenocarcinoma
is_a: MONDO:0005496 {source="DOID:4896", source="MONDO:Redundant", source="NCIT:C27813"} ! bile duct carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0003194
name: hemangioma of lung
def: "A hemangioma that involves the lung." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "lung hemangioma" EXACT [MONDO:patterns/location]
synonym: "pulmonary hemangioma" EXACT [DOID:490, NCIT:C7747]
xref: DOID:490 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0241983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843480"}
is_a: MONDO:0002732 {source="DOID:490", source="MONDO:Entailed", source="MONDO:Redundant"} ! lung benign neoplasm
is_a: MONDO:0006500 {source="DOID:490", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003195
name: peritoneal serous adenocarcinoma
def: "A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "peritoneum serous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "primary peritoneal serous adenocarcinoma" NARROW [DOID:4901]
xref: DOID:4901 {source="MONDO:equivalentTo"}
xref: NCIT:C40023 {source="MONDO:relatedTo", source="DOID:4901"}
is_a: MONDO:0002113 {source="DOID:4901", source="MONDO:Entailed", source="MONDO:Redundant"} ! peritoneal carcinoma
intersection_of: MONDO:0005278 ! serous adenocarcinoma
intersection_of: disease_has_location UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0003196
name: appendix carcinoma
def: "A carcinoma that arises from epithelial cells of the vermiform appendix" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "appendix cancer" BROAD [NCIT:C9330]
synonym: "appendix carcinoma" EXACT [NCIT:C9330]
synonym: "Ca appendix" EXACT [DOID:4902]
synonym: "carcinoma of appendix" EXACT [DOID:4902, NCIT:C9330]
synonym: "carcinoma of the appendix" EXACT [NCIT:C9330]
synonym: "carcinoma of vermiform appendix" EXACT [MONDO:patterns/carcinoma]
synonym: "vermiform appendix carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4902 {source="MONDO:equivalentTo"}
xref: MEDGEN:196398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9330 {source="MONDO:equivalentTo", source="DOID:4902"}
xref: SCTID:154462002 {source="DOID:4902"}
xref: SCTID:269541000 {source="DOID:4902"}
xref: SCTID:448992002 {source="MONDO:equivalentTo"}
xref: UMLS:C0728951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196398"}
is_a: MONDO:0001235 {source="DOID:4902", source="MONDO:Redundant", source="NCIT:C9330"} ! appendix cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C9330"} ! digestive system carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0003197
name: granular cell carcinoma
def: "An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm." [NCIT:C3681]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "granular cell adenocarcinoma" EXACT [DOID:4903, NCIT:C3681]
synonym: "granular cell carcinoma" EXACT [NCIT:C3681]
synonym: "granular cell carcinoma (morphologic abnormality)" EXACT [DOID:4903]
xref: DOID:4903 {source="MONDO:equivalentTo"}
xref: ICDO:8320/3 {source="NCIT:C3681"}
xref: MEDGEN:104695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000230 {source="DOID:4903"}
xref: NCIT:C3681 {source="NCIT:C3681", source="MONDO:equivalentTo", source="DOID:4903"}
xref: SCTID:69028005 {source="DOID:4903"}
xref: UMLS:C0205644 {source="MEDGEN:104695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="NCIT:C3681"} ! adenocarcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: MONDO:0006235 ! granular cell tumor

[Term]
id: MONDO:0003198
name: small intestine adenocarcinoma
def: "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." [NCIT:C7888]
subset: gard_rare {source="GARD:19851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:104075"}
subset: orphanet_rare {source="Orphanet:104075"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma - small intest." EXACT [NCIT:C7888]
synonym: "adenocarcinoma of small bowel" EXACT [NCIT:C7888, Orphanet:104075]
synonym: "adenocarcinoma of small instestine" EXACT [MONDO:0015189]
synonym: "adenocarcinoma of small intestine" EXACT [DOID:4906, NCIT:C7888]
synonym: "adenocarcinoma of the small bowel" EXACT [NCIT:C7888]
synonym: "adenocarcinoma of the small instestine" RELATED [Orphanet:104075]
synonym: "adenocarcinoma of the small intestine" EXACT [NCIT:C7888]
synonym: "small bowel adenocarcinoma" EXACT [NCIT:C7888]
synonym: "small intestinal adenocarcinoma" EXACT [DOID:4906, MONDO:0006415, NCIT:C7888]
synonym: "small intestine adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4906 {source="MONDO:equivalentTo"}
xref: EFO:1000532 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19851 {source="MONDO:GARD"}
xref: ICD10CM:D01.4 {source="Orphanet:104075", source="Orphanet:104075/ntbt"}
xref: icd11.foundation:1369513329 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:104075"}
xref: MEDGEN:82984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7888 {source="MONDO:equivalentTo", source="DOID:4906"}
xref: Orphanet:104075 {source="MONDO:equivalentTo"}
xref: SCTID:424440001 {source="MONDO:equivalentTo", source="DOID:4906"}
xref: UMLS:C0278803 {source="MEDGEN:82984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:4906", source="EFO:1000532", source="MONDO:Redundant", source="NCIT:C7888"} ! adenocarcinoma
is_a: MONDO:0005522 {source="DOID:4906", source="MONDO:Redundant", source="NCIT:C7888", source="Orphanet:104075"} ! small intestine carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0003199
name: anal carcinoma
def: "A carcinoma that arises from epithelial cells of the anus" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "anal cancer" BROAD [NCIT:C9291]
synonym: "anal cancer, NOS" BROAD EXCLUDE [NCIT:C9291]
synonym: "anal carcinoma" EXACT [NCIT:C9291]
synonym: "anus carcinoma" EXACT [MONDO:patterns/location]
synonym: "Ca anus" BROAD [DOID:4908]
synonym: "cancer of anus" BROAD [NCIT:C9291]
synonym: "cancer of the anus" BROAD [NCIT:C9291]
synonym: "carcinoma of anus" EXACT [DOID:4908, MONDO:patterns/carcinoma, NCIT:C9291]
synonym: "carcinoma of the anus" EXACT [NCIT:C9291]
xref: DOID:4908 {source="MONDO:equivalentTo"}
xref: MEDGEN:76006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001005 {source="DOID:4908"}
xref: NCIT:C9291 {source="DOID:4908", source="MONDO:equivalentTo"}
xref: SCTID:154467008 {source="DOID:4908"}
xref: SCTID:187762000 {source="DOID:4908"}
xref: SCTID:255084004 {source="DOID:4908"}
xref: SCTID:269546005 {source="DOID:4908"}
xref: SCTID:448315008 {source="MONDO:equivalentTo"}
xref: UMLS:C0279637 {source="MEDGEN:76006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001879 {source="DOID:4908", source="MONDO:Redundant", source="NCIT:C9291"} ! anus cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C9291"} ! digestive system carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0003200
name: urethra adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the urethra" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of the urethra" EXACT [DOID:4910, NCIT:C6167]
synonym: "adenocarcinoma of urethra" EXACT [NCIT:C6167]
synonym: "UAD" RELATED ABBREVIATION [ONCOTREE:UAD]
synonym: "urethra adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6167]
synonym: "urethral adenocarcinoma" EXACT [NCIT:C6167]
xref: DOID:4910 {source="MONDO:equivalentTo"}
xref: MEDGEN:234461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6167 {source="DOID:4910", source="MONDO:equivalentTo"}
xref: ONCOTREE:UAD {source="MONDO:equivalentTo"}
xref: UMLS:C1336885 {source="MEDGEN:234461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004192 {source="DOID:4910", source="MONDO:0003200/inferred", source="MONDO:Redundant", source="NCIT:C6167/inferred", source="ONCOTREE:UAD"} ! urethra cancer
is_a: MONDO:0004970 {source="DOID:4910", source="MONDO:Redundant", source="NCIT:C6167"} ! adenocarcinoma
is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C6167"} ! carcinoma of urethra
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0003201
name: obsolete esophagus adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0005028

[Term]
id: MONDO:0003202
name: pituitary gland basophilic carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "basophil adenocarcinoma" EXACT [DOID:4915, NCIT:C27392]
synonym: "basophil carcinoma" EXACT [NCIT:C27392]
synonym: "basophil carcinoma (morphologic abnormality)" EXACT [DOID:4915]
synonym: "basophilic carcinoma" RELATED [DOID:4915]
synonym: "pituitary gland basophil carcinoma" EXACT [NCIT:C27392]
xref: DOID:4915 {source="MONDO:equivalentTo"}
xref: MEDGEN:352901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27392 {source="MONDO:equivalentTo"}
xref: NCIT:C4150 {source="DOID:4915"}
xref: SCTID:47107000 {source="DOID:4915"}
xref: UMLS:C1704778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:352901"}
is_a: MONDO:0017582 {source="DOID:4915"} ! pituitary adenocarcinoma
relationship: excluded_subClassOf MONDO:0004805 {source="DOID:4915", source="https://orcid.org/0000-0001-5208-3432"} ! leukocyte disorder

[Term]
id: MONDO:0003203
name: obsolete pituitary carcinoma
is_obsolete: true
replaced_by: MONDO:0017582

[Term]
id: MONDO:0003204
name: villous adenocarcinoma
def: "An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma." [NCIT:C4142]
subset: otar {source="MONDO:OTAR"}
synonym: "villous adenocarcinoma" EXACT [NCIT:C4142]
synonym: "villous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4917]
xref: DOID:4917 {source="MONDO:equivalentTo"}
xref: ICDO:8262/3 {source="NCIT:C4142"}
xref: MEDGEN:137741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4142 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4917"}
xref: SCTID:28558000 {source="DOID:4917"}
xref: UMLS:C0334306 {source="MEDGEN:137741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:4917", source="NCIT:C4142"} ! adenocarcinoma

[Term]
id: MONDO:0003205
name: renal pelvis adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the renal pelvis" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adenocarcinoma of kidney pelvis" EXACT [NCIT:C6143]
synonym: "adenocarcinoma of renal pelvis" EXACT [DOID:4918, NCIT:C6143]
synonym: "adenocarcinoma of the kidney pelvis" EXACT [DOID:4918, NCIT:C6143]
synonym: "adenocarcinoma of the renal pelvis" EXACT [NCIT:C6143]
synonym: "kidney pelvis adenocarcinoma" EXACT [NCIT:C6143]
synonym: "kidney renal pelvis adenocarcinoma" EXACT [NCIT:C6143]
synonym: "renal pelvis adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6143]
xref: DOID:4918 {source="MONDO:equivalentTo"}
xref: MEDGEN:277590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6143 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4918"}
xref: UMLS:C1335748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277590"}
is_a: MONDO:0004970 {source="DOID:4918", source="MONDO:0003205/inferred", source="MONDO:Redundant", source="NCIT:C6143"} ! adenocarcinoma
is_a: MONDO:0005086 {source="DOID:4918", source="MONDO:Redundant"} ! renal cell carcinoma
is_a: MONDO:0005519 {source="DOID:4918", source="MONDO:Redundant", source="NCIT:C6143"} ! renal pelvis carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0003206
name: acquired hemangioma
def: "A hemangioma that is not present at birth but develops later in life." [NCIT:C27018]
synonym: "acquired hemangioma" EXACT [MONDO:patterns/acquired, NCIT:C27018]
xref: DOID:492 {source="MONDO:equivalentTo"}
xref: MEDGEN:208988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27018 {source="MONDO:equivalentTo", source="DOID:492", source="MONDO:exact-label-match"}
xref: UMLS:C0856897 {source="MEDGEN:208988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:492", source="MONDO:Redundant", source="NCIT:C27018"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0003207
name: obsolete eccrine adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0024240

[Term]
id: MONDO:0003208
name: breast secretory carcinoma
def: "A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas." [NCIT:C4189]
synonym: "cystic hypersecretory breast carcinoma" EXACT [NCIT:C4189]
synonym: "cystic hypersecretory carcinoma of breast" EXACT [NCIT:C4189]
synonym: "cystic hypersecretory carcinoma of the breast" EXACT [NCIT:C4189]
synonym: "infiltrating cystic hypersecretory duct breast carcinoma" EXACT [NCIT:C4189]
synonym: "invasive cystic hypersecretory duct breast carcinoma" EXACT [NCIT:C4189]
synonym: "JSCB" RELATED ABBREVIATION [ONCOTREE:JSCB]
synonym: "juvenile breast carcinoma" EXACT [DOID:4922, NCIT:C4189]
synonym: "juvenile carcinoma (formerly)" RELATED DEPRECATED [GARD:0009408]
synonym: "juvenile carcinoma of breast" EXACT [NCIT:C4189]
synonym: "juvenile carcinoma of the breast" EXACT [DOID:4922, NCIT:C4189]
synonym: "juvenile carcinoma of the breast (morphologic abnormality)" EXACT [DOID:4922]
synonym: "juvenile secretory breast carcinoma" EXACT [NCIT:C4189]
synonym: "juvenile secretory carcinoma of breast" EXACT [DOID:4922, NCIT:C4189]
synonym: "juvenile secretory carcinoma of the breast" EXACT [NCIT:C4189]
synonym: "SBC" RELATED ABBREVIATION [GARD:0009408]
synonym: "secretory breast carcinoma" EXACT [NCIT:C4189]
synonym: "secretory carcinoma" EXACT [NCIT:C4189]
synonym: "secretory carcinoma of breast" EXACT [NCIT:C4189]
synonym: "secretory carcinoma of the breast" EXACT [NCIT:C4189]
xref: DOID:4922 {source="MONDO:equivalentTo"}
xref: ICDO:8502/3 {source="NCIT:C4189"}
xref: ICDO:8508/3 {source="NCIT:C4189"}
xref: MEDGEN:87226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537535 {source="MONDO:equivalentTo", source="DOID:4922"}
xref: NCIT:C4189 {source="MONDO:equivalentTo", source="DOID:4922"}
xref: ONCOTREE:JSCB {source="MONDO:equivalentTo"}
xref: SCTID:41919003 {source="DOID:4922"}
xref: UMLS:C0334371 {source="MEDGEN:87226", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004988 {source="DOID:4922", source="MONDO:Redundant", source="NCIT:C4189/inferred"} ! breast adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C4189"} ! breast ductal adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C4189"} ! invasive breast carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma" xsd:anyURI {source="GARD:0009408"}

[Term]
id: MONDO:0003209
name: thymus gland adenocarcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation." [NCIT:C6459]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenocarcinoma of the Thymus" EXACT [DOID:4923, NCIT:C6459]
synonym: "adenocarcinoma of Thymus" EXACT [NCIT:C6459]
synonym: "thymic adenocarcinoma" EXACT [NCIT:C6459]
synonym: "Thymus adenocarcinoma" EXACT [NCIT:C6459]
synonym: "thymus adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4923 {source="MONDO:equivalentTo"}
xref: MEDGEN:234426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6459 {source="MONDO:equivalentTo", source="DOID:4923"}
xref: UMLS:C1336743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234426"}
is_a: MONDO:0004970 {source="DOID:4923", source="MONDO:Redundant", source="NCIT:C6459"} ! adenocarcinoma
is_a: MONDO:0006451 {source="DOID:4923", source="MONDO:Redundant", source="NCIT:C6459"} ! thymic carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0003210
name: intrahepatic cholangiocarcinoma
def: "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." [NCIT:C35417]
subset: gard_rare {source="GARD:6042", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cholangiocarcinoma, intrahepatic, malignant" EXACT [NCIT:C35417]
synonym: "ICC" EXACT ABBREVIATION [NCIT:C35417]
synonym: "IHCH" RELATED ABBREVIATION [ONCOTREE:IHCH]
synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C35417]
synonym: "intrahepatic bile duct carcinoma" EXACT [NCIT:C35417]
synonym: "intrahepatic carcinoma of bile duct" EXACT [NCIT:C35417]
synonym: "intrahepatic carcinoma of the bile duct" EXACT [NCIT:C35417]
synonym: "intrahepatic cholangiocarcinoma" EXACT [NCIT:C35417]
synonym: "intrahepatic cholangiocarcinoma (bile duct cancer)" EXACT [NCIT:C35417]
synonym: "intrahepatic Cholangiocellular carcinoma" EXACT [NCIT:C35417]
synonym: "peripheral cholangiocarcinoma" EXACT [DOID:4928, NCIT:C35417]
xref: DOID:4928 {source="MONDO:equivalentTo"}
xref: EFO:1001961 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6042 {source="MONDO:GARD"}
xref: ICD10CM:C22.1 {source="DOID:4928"}
xref: MEDGEN:87521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018281 {source="DOID:4928"}
xref: NCIT:C35417 {source="MONDO:equivalentTo", source="DOID:4928"}
xref: ONCOTREE:IHCH {source="MONDO:equivalentTo"}
xref: SCTID:109842005 {source="MONDO:equivalentTo", source="DOID:4928"}
xref: UMLS:C0345905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87521"}
is_a: MONDO:0019087 {source="DOID:4928", source="EFO:1001961", source="MONDO:Redundant", source="NCIT:C35417", source="ONCOTREE:IHCH"} ! cholangiocarcinoma
intersection_of: MONDO:0019087 {source="NCIT:C35417"} ! cholangiocarcinoma
intersection_of: disease_arises_from_structure UBERON:0004823 {source="NCIT:C35417"} ! intrahepatic bile duct epithelium
relationship: disease_has_location UBERON:0003704 {source="NCIT:C35417"} ! intrahepatic bile duct
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma" xsd:anyURI {source="GARD:0006042"}

[Term]
id: MONDO:0003211
name: nasal cavity adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the nasal cavity" [https://orcid.org/0000-0002-6601-2165]
synonym: "adenocarcinoma of nasal cavity" EXACT [DOID:4930, NCIT:C6015]
synonym: "adenocarcinoma of the nasal cavity" EXACT [DOID:4930, NCIT:C6015]
synonym: "nasal cavity adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6015]
xref: DOID:4930 {source="MONDO:equivalentTo"}
xref: MEDGEN:233746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6015 {source="DOID:4930", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233746"}
is_a: MONDO:0003212 {source="DOID:4930", source="MONDO:Redundant", source="NCIT:C6015"} ! nasal cavity carcinoma
is_a: MONDO:0004970 {source="DOID:4930", source="MONDO:Redundant", source="NCIT:C6015"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0003212
name: nasal cavity carcinoma
def: "A carcinoma that arises from epithelial cells of the nasal cavity" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of nasal cavity" BROAD [DOID:4931, NCIT:C9336]
synonym: "cancer of the nasal cavity" BROAD [NCIT:C9336]
synonym: "carcinoma of nasal cavity" EXACT [DOID:4931, MONDO:patterns/carcinoma, NCIT:C9336]
synonym: "carcinoma of the nasal cavity" EXACT [NCIT:C9336]
synonym: "nasal cavity cancer" BROAD [NCIT:C9336]
synonym: "nasal cavity carcinoma" EXACT [MONDO:patterns/location, NCIT:C9336]
xref: DOID:4931 {source="MONDO:equivalentTo"}
xref: MEDGEN:235119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9336 {source="MONDO:equivalentTo", source="DOID:4931"}
xref: SCTID:448990005 {source="MONDO:equivalentTo"}
xref: UMLS:C1377785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235119"}
is_a: MONDO:0001128 {source="DOID:4931", source="MONDO:Redundant", source="NCIT:C9336"} ! nasal cavity cancer
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C9336/inferred"} ! head and neck carcinoma
is_a: MONDO:0004993 {source="DOID:4931", source="MONDO:Redundant", source="NCIT:C9336/inferred"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0003213
name: obsolete ampulla of vater carcinoma
is_obsolete: true
replaced_by: MONDO:0006080

[Term]
id: MONDO:0003214
name: apocrine adenocarcinoma
def: "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "apocrine adenocarcinoma (morphologic abnormality)" EXACT [DOID:4933]
synonym: "apocrine carcinoma" EXACT [DOID:4933, NCIT:C4169]
synonym: "apocrine gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "apocrine gland carcinoma" EXACT [DOID:4933, NCIT:C4169]
synonym: "carcinoma of apocrine gland" EXACT [NCIT:C4169]
synonym: "carcinoma of the apocrine gland" EXACT [DOID:4933, NCIT:C5575]
xref: DOID:4933 {source="MONDO:equivalentTo"}
xref: ICDO:8401/3 {source="NCIT:C4169"}
xref: MEDGEN:569650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4169 {source="MONDO:equivalentTo"}
xref: SCTID:57141000 {source="DOID:4933"}
xref: UMLS:C0334346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:569650"}
is_a: MONDO:0003215 {source="DOID:4933", source="NCIT:C4169"} ! apocrine sweat gland cancer
is_a: MONDO:0005524 {source="DOID:4933", source="MONDO:Redundant", source="NCIT:C4169"} ! sweat gland carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0008974 ! apocrine gland

[Term]
id: MONDO:0003215
name: apocrine sweat gland cancer
def: "A malignant neoplasm involving the apocrine sweat gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "apocrine sweat gland cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of apocrine sweat gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant apocrine neoplasm" EXACT [NCIT:C6800]
synonym: "malignant apocrine neoplasm of skin" EXACT [NCIT:C6800]
synonym: "malignant apocrine neoplasm of the skin" EXACT [NCIT:C6800]
synonym: "malignant apocrine skin neoplasm" EXACT [NCIT:C6800]
synonym: "malignant apocrine skin tumor" EXACT [NCIT:C6800]
synonym: "malignant apocrine skin tumour" EXACT OMO:0003005 []
synonym: "malignant apocrine sweat gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant apocrine tumor" EXACT [DOID:4934, NCIT:C6800]
synonym: "malignant apocrine tumor of skin" EXACT [NCIT:C6800]
synonym: "malignant apocrine tumor of the skin" EXACT [NCIT:C6800]
synonym: "malignant apocrine tumour" EXACT OMO:0003005 []
synonym: "malignant apocrine tumour of skin" EXACT OMO:0003005 []
synonym: "malignant apocrine tumour of the skin" EXACT OMO:0003005 []
synonym: "malignant neoplasm of apocrine sweat gland" EXACT [MONDO:patterns/cancer]
xref: DOID:4934 {source="MONDO:equivalentTo"}
xref: MEDGEN:277327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6800 {source="MONDO:equivalentTo", source="DOID:4934"}
xref: UMLS:C1334561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277327"}
is_a: MONDO:0002206 {source="DOID:4934", source="MONDO:Redundant", source="NCIT:C6800"} ! sweat gland cancer
is_a: MONDO:0003686 {source="MONDO:Redundant", source="NCIT:C6800"} ! apocrine sweat gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000382 ! apocrine sweat gland

[Term]
id: MONDO:0003216
name: ureter adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the ureter" [https://orcid.org/0000-0002-6601-2165]
synonym: "adenocarcinoma of the ureter" EXACT [NCIT:C6155]
synonym: "adenocarcinoma of ureter" EXACT [DOID:4938, NCIT:C6155]
synonym: "ureter adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6155]
synonym: "ureteral adenocarcinoma" EXACT [DOID:4938, NCIT:C6155]
xref: DOID:4938 {source="MONDO:equivalentTo"}
xref: MEDGEN:234456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6155 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4938"}
xref: UMLS:C1336873 {source="MEDGEN:234456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:4938", source="MONDO:Redundant", source="NCIT:C6155"} ! adenocarcinoma
is_a: MONDO:0006481 {source="DOID:4938", source="MONDO:Redundant", source="NCIT:C6155"} ! ureter carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0003217
name: obsolete ureter carcinoma
is_obsolete: true
replaced_by: MONDO:0006481

[Term]
id: MONDO:0003218
name: adenocarcinoma in situ
def: "A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics." [NCIT:C4123]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma in situ" EXACT [NCIT:C4123]
synonym: "AIS" RELATED ABBREVIATION [ONCOTREE:AIS]
xref: DOID:4943 {source="MONDO:equivalentTo"}
xref: ICDO:8140/2 {source="NCIT:C4123"}
xref: MEDGEN:87203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065311 {source="DOID:4943", source="MONDO:equivalentTo"}
xref: NCIT:C4123 {source="DOID:4943", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:AIS {source="MONDO:equivalentTo"}
xref: SCTID:51642000 {source="DOID:4943"}
xref: UMLS:C0334276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87203"}
is_a: MONDO:0004647 {source="DOID:4943", source="MESH:D065311", source="MONDO:Redundant", source="NCIT:C4123"} ! in situ carcinoma
is_a: MONDO:0004970 {source="MESH:D065311", source="MONDO:Redundant", source="NCIT:C4123"} ! adenocarcinoma
intersection_of: MONDO:0004647 {source="NCIT:C4123"} ! in situ carcinoma
intersection_of: MONDO:0004970 {source="NCIT:C4123"} ! adenocarcinoma

[Term]
id: MONDO:0003219
name: gastroesophageal junction adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma - GEJ" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of cardioesophageal junction" EXACT [DOID:4944, NCIT:C9296]
synonym: "adenocarcinoma of gastroesophageal junction" EXACT [DOID:4944, NCIT:C9296]
synonym: "adenocarcinoma of the cardioesophageal junction" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of the EG junction" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of the esophagogastric junction" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of the gastroesophageal junction" EXACT [NCIT:C9296]
synonym: "adenocarcinoma of the GE junction" EXACT [NCIT:C9296]
synonym: "esophagogastric adenocarcinoma" RELATED [ONCOTREE:EGC]
synonym: "esophagogastric junction adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "gastroesophageal junction adenocarcinoma" EXACT [NCIT:C9296]
xref: DOID:4944 {source="MONDO:equivalentTo"}
xref: MEDGEN:231030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9296 {source="MONDO:equivalentTo", source="DOID:4944", source="MONDO:exact-label-match"}
xref: ONCOTREE:EGC {source="MONDO:equivalentTo"}
xref: ONCOTREE:GEJ {source="MONDO:equivalentTo"}
xref: UMLS:C1332166 {source="MEDGEN:231030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:4944", source="MONDO:Redundant", source="NCIT:C9296"} ! adenocarcinoma
is_a: MONDO:0006181 {source="NCIT:C9296"} ! digestive system carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0007650 ! esophagogastric junction

[Term]
id: MONDO:0003220
name: gallbladder carcinoma
def: "A carcinoma that arises from epithelial cells of the gall bladder" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of gallbladder" EXACT [NCIT:C3844]
synonym: "cancer of the gallbladder" EXACT [DOID:4948, NCIT:C3844]
synonym: "carcinoma gallbladder" EXACT [DOID:4948]
synonym: "carcinoma of gall bladder" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of gallbladder" EXACT [NCIT:C3844]
synonym: "carcinoma of the gallbladder" EXACT [NCIT:C3844]
synonym: "gall bladder carcinoma" EXACT [MONDO:patterns/location]
synonym: "Gall bladder carcinoma (adeno)" EXACT [NCIT:C3844]
synonym: "Gall bladder carcinoma (adenocarcinoma)" EXACT [NCIT:C3844]
synonym: "gallbladder cancer" BROAD [NCIT:C3844]
synonym: "gallbladder carcinoma" EXACT [NCIT:C3844]
xref: DOID:4948 {source="MONDO:equivalentTo"}
xref: EFO:1001956 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:116001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3844 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4948"}
xref: SCTID:187782001 {source="DOID:4948"}
xref: SCTID:255085003 {source="DOID:4948"}
xref: SCTID:372140005 {source="MONDO:equivalentTo", source="DOID:4948"}
xref: SCTID:93810008 {source="DOID:4948"}
xref: UMLS:C0235782 {source="MEDGEN:116001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005411 {source="DOID:4948", source="MONDO:Redundant", source="NCIT:C3844"} ! gallbladder cancer
is_a: MONDO:0006181 {source="EFO:1001956", source="MONDO:Redundant", source="NCIT:C3844"} ! digestive system carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0003221
name: obsolete sclerosing hemangioma
is_obsolete: true
replaced_by: MONDO:0006280

[Term]
id: MONDO:0003222
name: central nervous system melanocytic neoplasm
def: "A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion." [NCIT:C5504]
subset: otar {source="MONDO:OTAR"}
synonym: "central nervous system melanocytic neoplasm" EXACT [MONDO:patterns/location, NCIT:C5504]
synonym: "central nervous system melanocytic neoplasms" EXACT [NCIT:C5504]
synonym: "central nervous system melanocytic tumor" EXACT [NCIT:C5504]
synonym: "central nervous system melanocytic tumour" EXACT OMO:0003005 []
synonym: "central nervous system primary melanocytic lesion" RELATED [DOID:4955]
synonym: "CNS melanocytic neoplasm" EXACT [NCIT:C5504]
synonym: "CNS melanocytic tumor" EXACT [NCIT:C5504]
synonym: "CNS melanocytic tumour" EXACT OMO:0003005 []
synonym: "melanocytic neoplasm of central nervous system" EXACT [NCIT:C5504]
synonym: "melanocytic neoplasm of CNS" EXACT [NCIT:C5504]
synonym: "melanocytic neoplasm of the central nervous system" EXACT [NCIT:C5504]
synonym: "melanocytic neoplasm of the CNS" EXACT [NCIT:C5504]
synonym: "melanocytic tumor of central nervous system" EXACT [NCIT:C5504]
synonym: "melanocytic tumor of CNS" EXACT [NCIT:C5504]
synonym: "melanocytic tumor of the central nervous system" EXACT [NCIT:C5504]
synonym: "melanocytic tumor of the CNS" EXACT [DOID:4955, NCIT:C5504]
synonym: "melanocytic tumour of central nervous system" EXACT OMO:0003005 []
synonym: "melanocytic tumour of CNS" EXACT OMO:0003005 []
synonym: "melanocytic tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "melanocytic tumour of the CNS" EXACT OMO:0003005 []
synonym: "primary melanocytic lesion of meninges" RELATED [DOID:4955]
synonym: "primary melanocytic lesions of the CNS" RELATED [DOID:4955, NCIT:C4661]
xref: DOID:4955 {source="MONDO:equivalentTo"}
xref: MEDGEN:232333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4661 {source="DOID:4955"}
xref: NCIT:C5504 {source="MONDO:equivalentTo", source="DOID:4955", source="MONDO:exact-label-match"}
xref: SCTID:277523004 {source="MONDO:equivalentTo", source="DOID:4955"}
xref: UMLS:C1332887 {source="MEDGEN:232333", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002714 {source="DOID:4955"} ! central nervous system cancer
is_a: MONDO:0021143 {source="MONDO:Redundant", source="NCIT:C5504"} ! melanocytic neoplasm
intersection_of: MONDO:0021143 {source="NCIT:C5504"} ! melanocytic neoplasm
intersection_of: disease_has_location UBERON:0001017 {source="NCIT:C5504"} ! central nervous system

[Term]
id: MONDO:0003223
name: meninges hemangiopericytoma
def: "A solitary fibrous tumor/hemangiopericytoma that arises from the meninges." [NCIT:C4660]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemangiopericytoma of meninges" EXACT [NCIT:C4660]
synonym: "hemangiopericytoma of the central nervous system" RELATED [ONCOTREE:HPCCNS]
synonym: "hemangiopericytoma of the meninges" EXACT [NCIT:C4660]
synonym: "meningeal cluster hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "meningeal cluster spindle cell tumor" EXACT [MONDO:patterns/location]
synonym: "meningeal cluster spindle cell tumour" EXACT OMO:0003005 []
synonym: "meningeal hemangiopericytoma" EXACT [DOID:4957, NCIT:C4660]
synonym: "meningeal solitary fibrous tumor/hemangiopericytoma" EXACT [NCIT:C4660]
synonym: "meninges hemangiopericytoma" EXACT [NCIT:C4660]
xref: DOID:4957 {source="MONDO:equivalentTo"}
xref: MEDGEN:83894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4660 {source="MONDO:equivalentTo", source="DOID:4957"}
xref: ONCOTREE:HPCCNS {source="MONDO:equivalentTo"}
xref: SCTID:277522009 {source="MONDO:equivalentTo", source="DOID:4957"}
xref: UMLS:C0349622 {source="MEDGEN:83894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002714 {source="DOID:4957/inferred", source="MONDO:Redundant"} ! central nervous system cancer
is_a: MONDO:0005094 {source="DOID:4957", source="MONDO:Entailed", source="MONDO:Redundant"} ! hemangiopericytoma
is_a: MONDO:0016743 {source="MONDO:Redundant", source="NCIT:C4660", source="ONCOTREE:HPCCNS"} ! tumor of meninges
intersection_of: MONDO:0005094 ! hemangiopericytoma
intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster

[Term]
id: MONDO:0003224
name: obsolete spindle cell hemangioma
is_obsolete: true
replaced_by: MONDO:0016222

[Term]
id: MONDO:0003225
name: bone marrow disorder
def: "Any disease of the bone marrow." [NCIT:C34433]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone marrow disease" EXACT [MONDO:patterns/location, NCIT:C34433]
synonym: "bone marrow disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "bone marrow disorder" EXACT [DOID:4961, NCIT:C34433]
synonym: "disease of bone marrow" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bone marrow" EXACT []
synonym: "disorder of bone marrow" EXACT [MONDO:patterns/location_top]
xref: DOID:4961 {source="MONDO:equivalentTo"}
xref: ICD9:289.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:892905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001855 {source="DOID:4961", source="MONDO:equivalentTo"}
xref: NCIT:C34433 {source="DOID:4961", source="MONDO:equivalentTo"}
xref: SCTID:127035006 {source="DOID:4961", source="MONDO:equivalentTo"}
xref: UMLS:C4021634 {source="MEDGEN:892905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="DOID:4961", source="MESH:D001855", source="MONDO:Entailed", source="MONDO:Redundant"} ! hematologic disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002371 ! bone marrow
relationship: disease_has_location UBERON:0002371 {source="NCIT:C34433"} ! bone marrow

[Term]
id: MONDO:0003226
name: obsolete Nelson syndrome
is_obsolete: true
replaced_by: MONDO:0016035

[Term]
id: MONDO:0003227
name: prosopagnosia
def: "Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury." [NCIT:C85031]
synonym: "face blindness" EXACT [NCIT:C85031]
synonym: "prosopagnosia" EXACT [MONDO:ambiguous, NCIT:C85031]
synonym: "prosopagnosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:4970 {source="MONDO:equivalentTo"}
xref: HP:0010528 {source="MONDO:otherHierarchy"}
xref: ICD10CM:R48.3 {source="DOID:4970"}
xref: MEDGEN:65884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020238 {source="DOID:4970", source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C85031 {source="DOID:4970", source="MONDO:equivalentTo"}
xref: SCTID:18358003 {source="DOID:4970"}
xref: UMLS:C0234512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65884"}
is_a: MONDO:0005638 {source="DOID:4970", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia
intersection_of: MONDO:0005638 ! agnosia
intersection_of: disease_has_major_feature HP:0010528 ! Prosopagnosia
property_value: IAO:0000589 "prosopagnosia (disease)" xsd:string

[Term]
id: MONDO:0003228
name: obsolete myelodysplastic/myeloproliferative neoplasm
is_obsolete: true
replaced_by: MONDO:0006311

[Term]
id: MONDO:0003229
name: obsolete lymphedema
is_obsolete: true
replaced_by: MONDO:0019297

[Term]
id: MONDO:0003230
name: obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor
is_obsolete: true
replaced_by: MONDO:0021039

[Term]
id: MONDO:0003231
name: acute nonparalytic poliomyelitis
def: "A poliomyelitis that does not exhibit paralysis." [http://en.wikipedia.org/wiki/Poliomyelitis]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acute nonparalytic poliomyelitis" EXACT [DOID:4986]
synonym: "non-paralytic aseptic meningitis" NARROW [DOID:4986]
synonym: "nonparalytic poliomyelitis" EXACT [DOID:4986]
xref: DOID:4986 {source="MONDO:equivalentTo"}
xref: ICD10CM:A80.4 {source="MONDO:equivalentTo", source="DOID:4986"}
xref: ICD9:045.2 {source="DOID:4986"}
xref: ICD9:045.20 {source="MONDO:equivalentTo", source="DOID:4986", source="MONDO:i2s"}
xref: ICD9:045.22 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:045.23 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14535005 {source="MONDO:equivalentTo", source="DOID:4986"}
xref: UMLS:C0152998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509107"}
is_a: MONDO:0017373 {source="DOID:4986"} ! poliomyelitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003232
name: alcoholic pancreatitis
def: "Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." [MESH:D019512]
subset: otar {source="MONDO:OTAR"}
synonym: "alcoholic pancreatitis" EXACT [MESH:D019512]
xref: DOID:4988 {source="MONDO:equivalentTo"}
xref: EFO:1002013 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:84027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019512 {source="MONDO:equivalentTo", source="DOID:4988"}
xref: SCTID:445507008 {source="MONDO:equivalentTo", source="DOID:4988"}
xref: UMLS:C0376670 {source="MEDGEN:84027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004982 {source="DOID:4988", source="EFO:1002013", source="MESH:D019512", source="MONDO:Redundant"} ! pancreatitis
is_a: MONDO:0021699 {source="MESH:D019512"} ! alcohol-induced disorders
intersection_of: MONDO:0004982 ! pancreatitis
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0003233
name: essential tremor
def: "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" [MESH:D020329]
subset: otar {source="MONDO:OTAR"}
synonym: "benign essential tremor" EXACT [DOID:4990]
synonym: "essential hereditary tremor" NARROW [DOID:4990]
synonym: "shaky hand syndrome" EXACT [DOID:4990]
synonym: "tremor, hereditary essential" NARROW [OMIMPS:190300]
xref: DOID:4990 {source="MONDO:equivalentTo"}
xref: EFO:0003108 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G25.0 {source="MONDO:equivalentTo", source="DOID:4990"}
xref: ICD9:333.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020329 {source="MONDO:equivalentTo", source="DOID:4990"}
xref: OMIMPS:190300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:862 {source="MONDO:equivalentObsolete", source="DOID:4990"}
xref: SCTID:192839001 {source="DOID:4990"}
xref: SCTID:609558009 {source="MONDO:equivalentTo", source="DOID:4990"}
xref: SCTID:632009 {source="DOID:4990"}
xref: UMLS:C0270736 {source="MEDGEN:78725", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="DOID:4990", source="MESH:D020329"} ! movement disorder
relationship: disease_has_feature HP:0030186 ! Kinetic tremor
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:190300"} ! inherited

[Term]
id: MONDO:0003234
name: optic nerve astrocytoma
def: "A astrocytoma (excluding glioblastoma) that involves the cranial nerve II." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "astrocytic tumor of optic nerve" EXACT [DOID:4991, NCIT:C6769]
synonym: "astrocytic tumour of optic nerve" EXACT OMO:0003005 []
synonym: "astrocytoma (excluding glioblastoma) of cranial nerve II" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of optic nerve" EXACT [NCIT:C6769]
synonym: "astrocytoma of the optic nerve" EXACT [NCIT:C6769]
synonym: "cranial nerve II astrocytoma (excluding glioblastoma)" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "optic nerve astrocytoma" EXACT [NCIT:C6769]
synonym: "optic tract astrocytoma" RELATED [DOID:4991, MONDO:patterns/location]
synonym: "optic tract astrocytoma (excluding glioblastoma)" RELATED [MONDO:patterns/location]
xref: DOID:4991 {source="MONDO:equivalentTo"}
xref: MEDGEN:235405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6769 {source="DOID:4991", source="MONDO:equivalentTo"}
xref: NCIT:C7533 {source="DOID:4991", source="MONDO:directSiblingOf"}
xref: UMLS:C1335114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235405"}
is_a: MONDO:0003235 {source="DOID:4991", source="MONDO:Redundant", source="NCIT:C6769"} ! optic nerve glioma
is_a: MONDO:0019781 {source="NCIT:C6769/inferred", source="NCIT:C7533"} ! astrocytoma (excluding glioblastoma)
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0000941 ! cranial nerve II

[Term]
id: MONDO:0003235
name: optic nerve glioma
def: "A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." [NCIT:C4537]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cranial nerve II glioma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "glioma of cranial nerve II" EXACT [MONDO:design_pattern]
synonym: "glioma of optic nerve" EXACT [NCIT:C4537]
synonym: "glioma of the optic nerve" EXACT [DOID:4992, NCIT:C4537]
synonym: "optic nerve glioma" EXACT [NCIT:C4537]
xref: DOID:4992 {source="MONDO:equivalentTo"}
xref: EFO:0009254 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:237.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020339 {source="DOID:4992", source="MONDO:equivalentTo"}
xref: NCIT:C4537 {source="DOID:4992", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:254976006 {source="DOID:4992", source="MONDO:equivalentTo"}
xref: SCTID:404662003 {source="DOID:4992"}
xref: UMLS:C0346326 {source="MEDGEN:138056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002640 {source="DOID:4992", source="MESH:D020339", source="MONDO:Redundant", source="NCIT:C4537"} ! optic nerve neoplasm
is_a: MONDO:0016167 {source="NCIT:C4537"} ! optic pathway glioma
intersection_of: MONDO:0021042 ! glioma
intersection_of: disease_has_location UBERON:0000941 ! cranial nerve II

[Term]
id: MONDO:0003236
name: atypical polypoid adenomyoma
def: "An adenomyoma characterized by the presence of marked glandular architectural complexity." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "atypical polypoid adenomyoma" EXACT [DOID:4993, NCIT:C6895]
synonym: "atypical polypoid adenomyoma (morphologic abnormality)" EXACT [DOID:4993]
xref: DOID:4993 {source="MONDO:equivalentTo"}
xref: MEDGEN:266248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6895 {source="DOID:4993", source="MONDO:equivalentTo"}
xref: SCTID:388987001 {source="DOID:4993"}
xref: SCTID:40293003 {source="DOID:4993"}
xref: UMLS:C1300347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266248"}
is_a: MONDO:0005635 {source="DOID:4993", source="NCIT:C6895"} ! adenomyoma

[Term]
id: MONDO:0003237
name: adenomyoma of uterine corpus
def: "A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenomyoma of body of uterus" EXACT [NCIT:C6338]
synonym: "adenomyoma of corpus uteri" EXACT [DOID:4994, NCIT:C6338]
synonym: "adenomyoma of the body of uterus" EXACT [NCIT:C6338]
synonym: "adenomyoma of the corpus uteri" EXACT [NCIT:C6338]
synonym: "adenomyoma of the uterine body" EXACT [NCIT:C6338]
synonym: "adenomyoma of the uterine corpus" EXACT [NCIT:C6338]
synonym: "adenomyoma of uterine body" EXACT [NCIT:C6338]
synonym: "adenomyoma of uterine corpus" EXACT [NCIT:C6338]
synonym: "body of uterus adenomyoma" EXACT [MONDO:patterns/location]
synonym: "corpus uteri adenomyoma" EXACT [NCIT:C6338]
synonym: "uterine body adenomyoma" EXACT [NCIT:C6338]
synonym: "uterine corpus adenomyoma" EXACT [NCIT:C6338]
xref: DOID:4994 {source="MONDO:equivalentTo"}
xref: MEDGEN:234465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6338 {source="DOID:4994", source="MONDO:equivalentTo"}
xref: UMLS:C1336903 {source="MEDGEN:234465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005635 {source="DOID:4994", source="MONDO:Redundant", source="NCIT:C6338"} ! adenomyoma
intersection_of: MONDO:0005635 ! adenomyoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: excluded_subClassOf MONDO:0006003 {source="DOID:4994", source="https://orcid.org/0000-0001-5208-3432"} ! uterine corpus cancer

[Term]
id: MONDO:0003238
name: cervical adenomyoma
def: "A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma." [NCIT:C40231]
synonym: "cervical adenomyoma" EXACT [NCIT:C40231]
xref: DOID:4995 {source="MONDO:equivalentTo"}
xref: MEDGEN:275705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40231 {source="DOID:4995", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1516404 {source="MEDGEN:275705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005635 {source="DOID:4995", source="NCIT:C40231"} ! adenomyoma

[Term]
id: MONDO:0003239
name: obsolete Camurati-Engelmann disease
is_obsolete: true
replaced_by: MONDO:0007542

[Term]
id: MONDO:0003240
name: thyroid gland disorder
def: "A disease involving the thyroid gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of thyroid gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of thyroid gland" EXACT []
synonym: "disorder of thyroid gland" EXACT [MONDO:patterns/location_top]
synonym: "thyroid disease" EXACT [MONDO:0006494]
synonym: "thyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26893]
synonym: "thyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "thyroid gland diseases" EXACT [NCIT:C26893]
synonym: "thyroid gland disorder" EXACT [NCIT:C26893]
synonym: "thyroid gland disorders" EXACT [NCIT:C26893]
xref: DOID:50 {source="MONDO:equivalentTo"}
xref: EFO:1000627 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E00-E07 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:50", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:E07.9 {source="DOID:50"}
xref: ICD9:240-246.99 {source="DOID:50"}
xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:246.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:50"}
xref: MEDGEN:1378579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013959 {source="MONDO:equivalentTo", source="DOID:50"}
xref: NCIT:C26893 {source="MONDO:equivalentTo", source="DOID:50"}
xref: SCTID:14304000 {source="MONDO:equivalentTo", source="DOID:50"}
xref: SCTID:154649009 {source="DOID:50"}
xref: SCTID:190232008 {source="DOID:50"}
xref: SCTID:190311002 {source="DOID:50"}
xref: SCTID:191036006 {source="DOID:50"}
xref: UMLS:C4317107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378579"}
xref: Wikipedia:Thyroid_disease {source="EFO:1000627"}
is_a: MONDO:0005151 {source="DOID:50", source="MESH:D013959", source="MONDO:Redundant"} ! endocrine system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0003241
name: central nervous system hemangioma
def: "A hemangioma arising from the brain and spinal cord." [NCIT:C7004]
subset: otar {source="MONDO:OTAR"}
synonym: "central nervous system hemangioma" EXACT [MONDO:patterns/location, NCIT:C7004]
synonym: "hemangioma of central nervous system" EXACT [NCIT:C7004]
synonym: "hemangioma of CNS" EXACT [DOID:501, NCIT:C7004]
synonym: "hemangioma of the central nervous system" EXACT [NCIT:C7004]
synonym: "hemangioma of the CNS" EXACT [NCIT:C7004]
xref: DOID:501 {source="MONDO:equivalentTo"}
xref: MEDGEN:272703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7004 {source="DOID:501", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333957 {source="MEDGEN:272703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:501", source="MONDO:Redundant", source="NCIT:C7004"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003242
name: obsolete fibrolamellar carcinoma
is_obsolete: true
replaced_by: MONDO:0006210

[Term]
id: MONDO:0003243
name: hepatocellular clear cell carcinoma
def: "A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "clear cell carcinoma of liver cells" EXACT [NCIT:C5754]
synonym: "clear cell carcinoma of the liver cells" EXACT [DOID:5016, NCIT:C5754]
synonym: "clear cell hepatocellular cancer" EXACT [NCIT:C5754]
synonym: "clear cell hepatocellular carcinoma" EXACT [NCIT:C5754]
synonym: "hepatocellular clear cell carcinoma" EXACT [NCIT:C5754]
synonym: "liver cell clear cell carcinoma" EXACT [NCIT:C5754]
xref: DOID:5016 {source="MONDO:equivalentTo"}
xref: ICDO:8174/3 {source="NCIT:C5754"}
xref: MEDGEN:690059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5754 {source="DOID:5016", source="MONDO:equivalentTo"}
xref: UMLS:C1266020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:690059"}
is_a: MONDO:0005004 {source="MONDO:Redundant", source="NCIT:C5754"} ! clear cell adenocarcinoma
is_a: MONDO:0007256 {source="DOID:5016", source="DOID:5016/inferred", source="MONDO:Redundant", source="NCIT:C5754"} ! hepatocellular carcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: MONDO:0007256 ! hepatocellular carcinoma

[Term]
id: MONDO:0003244
name: central nervous system mesenchymal non-meningothelial tumor
def: "A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)" [NCIT:P378]
synonym: "central nervous system mesenchymal, non-meningothelial neoplasm" EXACT [NCIT:C5449]
synonym: "central nervous system mesenchymal, non-meningothelial tumor" EXACT [NCIT:C5449]
synonym: "central nervous system mesenchymal, non-meningothelial tumour" EXACT OMO:0003005 []
synonym: "central nervous system soft tissue neoplasm" EXACT [NCIT:C5449]
synonym: "central nervous system soft tissue tumor" EXACT [NCIT:C5449]
synonym: "central nervous system soft tissue tumour" EXACT OMO:0003005 []
synonym: "CNS soft tissue neoplasm" EXACT [NCIT:C5449]
synonym: "CNS soft tissue tumor" EXACT [NCIT:C5449]
synonym: "CNS soft tissue tumour" EXACT OMO:0003005 []
synonym: "mesenchymal non-meningothelial tumor of the central nervous system" EXACT [NCIT:C5449]
synonym: "mesenchymal non-meningothelial tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "mesenchymal, non-meningothelial tumor of central nervous system" EXACT [NCIT:C5449]
synonym: "mesenchymal, non-meningothelial tumor of CNS" EXACT [NCIT:C5449]
synonym: "mesenchymal, non-meningothelial tumor of the CNS" EXACT [NCIT:C5449]
synonym: "mesenchymal, non-meningothelial tumour of central nervous system" EXACT OMO:0003005 []
synonym: "mesenchymal, non-meningothelial tumour of CNS" EXACT OMO:0003005 []
synonym: "mesenchymal, non-meningothelial tumour of the CNS" EXACT OMO:0003005 []
synonym: "non-meningothelial mesenchymal tumor" EXACT [DOID:502, NCIT:C6972]
synonym: "non-meningothelial mesenchymal tumour" EXACT OMO:0003005 []
synonym: "soft tissue neoplasm of central nervous system" EXACT [NCIT:C5449]
synonym: "soft tissue neoplasm of CNS" EXACT [NCIT:C5449]
synonym: "soft tissue neoplasm of the central nervous system" EXACT [NCIT:C5449]
synonym: "soft tissue neoplasm of the CNS" EXACT [NCIT:C5449]
synonym: "soft tissue tumor of central nervous system" EXACT [NCIT:C5449]
synonym: "soft tissue tumor of CNS" EXACT [NCIT:C5449]
synonym: "soft tissue tumor of the central nervous system" EXACT [NCIT:C5449]
synonym: "soft tissue tumor of the CNS" EXACT [NCIT:C5449]
synonym: "soft tissue tumour of central nervous system" EXACT OMO:0003005 []
synonym: "soft tissue tumour of CNS" EXACT OMO:0003005 []
synonym: "soft tissue tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "soft tissue tumour of the CNS" EXACT OMO:0003005 []
xref: DOID:502 {source="MONDO:equivalentTo"}
xref: MEDGEN:234104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5449 {source="MONDO:equivalentTo"}
xref: UMLS:C1332893 {source="MEDGEN:234104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006424 {source="NCIT:C5449"} ! soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0002714 {source="DOID:502", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system cancer

[Term]
id: MONDO:0003245
name: aflatoxin-related hepatocellular carcinoma
def: "A hepatocellular carcinoma that develops following exposure to aflatoxin." [NCIT:C27922]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "aflatoxins-related hepatocellular cancer" EXACT [NCIT:C27922]
synonym: "aflatoxins-related hepatocellular carcinoma" EXACT [NCIT:C27922]
xref: DOID:5022 {source="MONDO:equivalentTo"}
xref: MEDGEN:231047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27922 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5022"}
xref: UMLS:C1332222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231047"}
is_a: MONDO:0007256 {source="DOID:5022", source="DOID:5022/inferred", source="MONDO:Redundant", source="NCIT:C27922"} ! hepatocellular carcinoma
intersection_of: MONDO:0007256 ! hepatocellular carcinoma
intersection_of: realized_in_response_to ECTO:0001108 ! exposure to aflatoxin

[Term]
id: MONDO:0003246
name: sclerosing hepatic carcinoma
def: "An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "scirrhous hepatocellular cancer" EXACT [NCIT:C27388]
synonym: "scirrhous hepatocellular carcinoma" EXACT [NCIT:C27388]
synonym: "sclerosing hepatic carcinoma" EXACT [DOID:5026, NCIT:C27388]
synonym: "sclerosing hepatocellular carcinoma" EXACT [DOID:5026, NCIT:C27388]
xref: DOID:5026 {source="MONDO:equivalentTo"}
xref: ICDO:8172/3 {source="NCIT:C27388"}
xref: MEDGEN:266088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27388 {source="DOID:5026", source="MONDO:equivalentTo"}
xref: SCTID:128646008 {source="DOID:5026"}
xref: UMLS:C1266018 {source="MEDGEN:266088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007256 {source="DOID:5026", source="DOID:5026/inferred", source="NCIT:C27388"} ! hepatocellular carcinoma

[Term]
id: MONDO:0003247
name: obsolete pineal parenchymal tumor of intermediate differentiation
is_obsolete: true
replaced_by: MONDO:0006369

[Term]
id: MONDO:0003248
name: adult pineal parenchymal tumor
def: "A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults." [NCIT:C8273]
synonym: "adult pineal gland neoplasm" EXACT [NCIT:C8273]
synonym: "adult pineal gland tumor" EXACT [NCIT:C8273]
synonym: "adult pineal gland tumour" EXACT OMO:0003005 []
synonym: "adult pineal parenchymal cell neoplasm" EXACT [NCIT:C8273]
synonym: "adult pineal parenchymal cell tumor" EXACT [NCIT:C8273]
synonym: "adult pineal parenchymal cell tumour" EXACT OMO:0003005 []
synonym: "adult pineal parenchymal neoplasm" EXACT [DOID:5031, NCIT:C8273]
synonym: "adult pineal parenchymal tumor" EXACT [NCIT:C8273]
synonym: "parenchymal neoplasm of adult pineal gland" EXACT [NCIT:C8273]
synonym: "parenchymal neoplasm of the adult pineal gland" EXACT [NCIT:C8273]
synonym: "parenchymal tumor of adult pineal gland" EXACT [NCIT:C8273]
synonym: "parenchymal tumor of the adult pineal gland" EXACT [NCIT:C8273]
synonym: "parenchymal tumour of adult pineal gland" EXACT OMO:0003005 []
synonym: "parenchymal tumour of the adult pineal gland" EXACT OMO:0003005 []
synonym: "pineal parenchymal cell neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "pineal parenchymal cell tumor" BROAD [NCIT:C8273]
synonym: "pineal parenchymal cell tumour" BROAD OMO:0003005 []
xref: DOID:5031 {source="MONDO:equivalentTo"}
xref: MEDGEN:83710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8273 {source="MONDO:equivalentTo", source="DOID:5031"}
xref: UMLS:C0280794 {source="MEDGEN:83710", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024890 {source="MONDO:Redundant", source="NCIT:C8273"} ! pineal parenchymal cell neoplasm
intersection_of: MONDO:0024890 ! pineal parenchymal cell neoplasm
intersection_of: has_characteristic HP:0003581 ! Adult onset
relationship: excluded_subClassOf MONDO:0003249 {source="DOID:5031", source="https://orcid.org/0000-0001-5208-3432"} ! pineal gland cancer

[Term]
id: MONDO:0003249
name: pineal gland cancer
def: "Abnormal malignant growth of the cells that comprise the pineal parenchyma." [NCIT:C3573]
synonym: "cancer of pineal body" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pineal body" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pineal gland" EXACT [NCIT:C3573]
synonym: "malignant neoplasm of the pineal gland" EXACT [NCIT:C3573]
synonym: "malignant pineal area neoplasm" EXACT [NCIT:C3573]
synonym: "malignant pineal area tumor" EXACT [NCIT:C3573]
synonym: "malignant pineal area tumour" EXACT OMO:0003005 []
synonym: "malignant pineal body neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant pineal gland neoplasm" EXACT [NCIT:C3573]
synonym: "malignant pineal gland tumor" EXACT [NCIT:C3573]
synonym: "malignant pineal gland tumour" EXACT OMO:0003005 []
synonym: "malignant pineal region neoplasm" EXACT [NCIT:C3573]
synonym: "malignant pineal region tumor" EXACT [DOID:5032, NCIT:C3573]
synonym: "malignant pineal region tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of pineal gland" EXACT [DOID:5032, NCIT:C3573]
synonym: "malignant tumor of the pineal gland" EXACT [NCIT:C3573]
synonym: "malignant tumour of pineal gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the pineal gland" EXACT OMO:0003005 []
synonym: "neoplasm of pineal gland" BROAD EXCLUDE [DOID:5032]
synonym: "neoplasm of the pineal region" BROAD [DOID:5032]
synonym: "pineal body cancer" EXACT [MONDO:patterns/location]
synonym: "pineal body neoplasm" BROAD EXCLUDE [DOID:5032]
synonym: "pinealoma" RELATED [DOID:5032]
synonym: "pineocytic tumor" BROAD [DOID:5032]
synonym: "pineocytic tumour" BROAD OMO:0003005 []
synonym: "tumor of the pineal region" BROAD [DOID:5032]
synonym: "tumour of the pineal region" BROAD OMO:0003005 []
xref: DOID:5032 {source="MONDO:equivalentTo"}
xref: ICD10CM:C75.3 {source="DOID:5032"}
xref: ICD9:194.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5032"}
xref: MEDGEN:102284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010871 {source="DOID:5032"}
xref: NCIT:C3328 {source="DOID:5032"}
xref: NCIT:C3573 {source="MONDO:equivalentTo", source="DOID:5032"}
xref: NCIT:C6965 {source="DOID:5032", source="MONDO:directSiblingOf"}
xref: SCTID:127026004 {source="DOID:5032"}
xref: SCTID:359619007 {source="DOID:5032"}
xref: SCTID:363483004 {source="MONDO:equivalentTo", source="DOID:5032"}
xref: SCTID:47598005 {source="DOID:5032"}
xref: SCTID:93962006 {source="DOID:5032"}
xref: UMLS:C0153655 {source="MEDGEN:102284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002071 {source="MONDO:Redundant", source="NCIT:C3573"} ! supratentorial cancer
is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C3573"} ! pineal body neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0003250
name: benign granular cell tumor
def: "A granular cell tumor that is confined to the site of origin, without metastatic potential." [NCIT:C3252]
subset: inferred_rare
subset: rare
synonym: "benign granular cell myoblastoma" EXACT [NCIT:C3252]
synonym: "benign granular cell neoplasm" EXACT [NCIT:C3252]
synonym: "benign granular cell tumor" EXACT [DOID:5039, NCIT:C3252]
synonym: "granular cell tumor, benign" EXACT [MONDO:patterns/benign, NCIT:C3252]
synonym: "myoblastoma" EXACT [NCIT:C3252]
xref: DOID:5039 {source="MONDO:equivalentTo"}
xref: MEDGEN:44550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009379 {source="MONDO:relatedTo", source="DOID:5039"}
xref: NCIT:C3252 {source="DOID:5039", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0027043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44550"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="NCIT:C3252"} ! granular cell tumor
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0003251
name: esophageal granular cell tumor
def: "A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003" [NCIT:C5700]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophageal granular cell myoblastoma" EXACT [NCIT:C5700]
synonym: "esophageal granular cell neoplasm" EXACT [NCIT:C5700]
synonym: "esophageal granular cell tumor" EXACT [NCIT:C5700]
synonym: "esophagus granular cell tumor" EXACT [MONDO:patterns/location]
synonym: "granular cell esophageal tumor" EXACT [NCIT:C5700]
synonym: "granular cell esophageal tumour" EXACT OMO:0003005 []
synonym: "granular cell esophagus myoblastoma" EXACT [NCIT:C5700]
synonym: "granular cell esophagus neoplasm" EXACT [NCIT:C5700]
synonym: "granular cell esophagus tumor" EXACT [NCIT:C5700]
synonym: "granular cell myoblastoma of esophagus" EXACT [NCIT:C5700]
synonym: "granular cell myoblastoma of oesophagus" EXACT OMO:0003005 []
synonym: "granular cell myoblastoma of the esophagus" EXACT [NCIT:C5700]
synonym: "granular cell myoblastoma of the oesophagus" EXACT OMO:0003005 []
synonym: "granular cell neoplasm of esophagus" EXACT [NCIT:C5700]
synonym: "granular cell neoplasm of oesophagus" EXACT OMO:0003005 []
synonym: "granular cell neoplasm of the esophagus" EXACT [NCIT:C5700]
synonym: "granular cell neoplasm of the oesophagus" EXACT OMO:0003005 []
synonym: "granular cell oesophagus myoblastoma" EXACT OMO:0003005 []
synonym: "granular cell oesophagus neoplasm" EXACT OMO:0003005 []
synonym: "granular cell oesophagus tumour" EXACT OMO:0003005 []
synonym: "granular cell tumor of esophagus" EXACT [DOID:5040, NCIT:C5700]
synonym: "granular cell tumor of the esophagus" EXACT [NCIT:C5700]
synonym: "granular cell tumour of oesophagus" EXACT OMO:0003005 []
synonym: "granular cell tumour of the oesophagus" EXACT OMO:0003005 []
synonym: "malignant granular cell esophageal tumor" RELATED [DOID:5040]
synonym: "malignant granular cell esophageal tumour" RELATED OMO:0003005 []
synonym: "oesophagus granular cell tumour" EXACT OMO:0003005 []
xref: DOID:5040 {source="MONDO:equivalentTo"}
xref: MEDGEN:234228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5700 {source="MONDO:equivalentTo", source="DOID:5040"}
xref: UMLS:C1333448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234228"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="NCIT:C5700"} ! granular cell tumor
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C5700"} ! neoplasm of esophagus
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0003252
name: granular cell cancer
def: "An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "granular cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4336]
synonym: "granular cell tumor, malignant (morphologic abnormality)" EXACT [DOID:5042]
synonym: "malignant granular cell myoblastoma" EXACT [MONDO:0021087, NCIT:C4336]
synonym: "malignant granular cell neoplasm" EXACT [DOID:5042, NCIT:C4336]
synonym: "malignant granular cell tumor" EXACT [NCIT:C4336]
synonym: "malignant granular cell tumour" EXACT OMO:0003005 []
synonym: "myoblastoma, malignant" EXACT [NCIT:C4336]
xref: DOID:5042 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9580/3 {source="NCIT:C4336"}
xref: MEDGEN:87276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4336 {source="MONDO:equivalentTo", source="DOID:5042"}
xref: SCTID:13238004 {source="DOID:5042"}
xref: SCTID:404041003 {source="MONDO:equivalentTo", source="DOID:5042"}
xref: UMLS:C0334618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87276"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="NCIT:C4336"} ! granular cell tumor
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003253
name: vulvar granular cell tumor
def: "A usually benign granular cell tumor that arises from the vulva." [NCIT:C40328]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "granular cell tumor of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "granular cell tumour of mammalian vulva" EXACT OMO:0003005 []
synonym: "mammalian vulva granular cell tumor" EXACT [MONDO:patterns/location]
synonym: "mammalian vulva granular cell tumour" EXACT OMO:0003005 []
synonym: "vulvar granular cell tumor" EXACT [NCIT:C40328]
xref: DOID:5043 {source="MONDO:equivalentTo"}
xref: MEDGEN:276992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40328 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5043"}
xref: UMLS:C1520083 {source="MONDO:equivalentTo", source="MEDGEN:276992", source="MONDO:MEDGEN"}
is_a: MONDO:0006235 {source="MONDO:Redundant", source="NCIT:C40328"} ! granular cell tumor
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C40328"} ! vulvar neoplasm
intersection_of: MONDO:0006235 {source="NCIT:C40328"} ! granular cell tumor
intersection_of: disease_has_location UBERON:0000997 {source="NCIT:C40328"} ! mammalian vulva

[Term]
id: MONDO:0003254
name: cardiac granular cell neoplasm
def: "A very rare granular cell tumor that arises from the heart." [NCIT:C5360]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cardiac granular cell neoplasm" EXACT [NCIT:C5360]
synonym: "Cardiac granular cell tumor" EXACT [NCIT:C5360]
synonym: "Cardiac granular cell tumour" EXACT OMO:0003005 []
synonym: "granular cell neoplasm of heart" EXACT [NCIT:C5360]
synonym: "granular cell neoplasm of the heart" EXACT [NCIT:C5360]
synonym: "granular cell tumor of heart" EXACT [DOID:5044, NCIT:C5360]
synonym: "granular cell tumor of the heart" EXACT [NCIT:C5360]
synonym: "granular cell tumour of heart" EXACT OMO:0003005 []
synonym: "granular cell tumour of the heart" EXACT OMO:0003005 []
synonym: "heart granular cell tumor" EXACT [MONDO:patterns/location]
synonym: "heart granular cell tumour" EXACT OMO:0003005 []
xref: DOID:5044 {source="MONDO:equivalentTo"}
xref: MEDGEN:232023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5360 {source="MONDO:equivalentTo", source="DOID:5044"}
xref: UMLS:C1332845 {source="MEDGEN:232023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000629 {source="DOID:5044", source="MONDO:Redundant"} ! cardiovascular organ benign neoplasm
is_a: MONDO:0005267 {source="MONDO:Redundant", source="NCIT:C5360/inferred"} ! heart disorder
is_a: MONDO:0006235 {source="MONDO:Redundant", source="NCIT:C5360"} ! granular cell tumor
is_a: MONDO:0021379 {source="MONDO:Redundant", source="NCIT:C5360"} ! neoplasm of epicardium
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: disease_has_location UBERON:0000948 ! heart
relationship: disease_has_location UBERON:0002348 {source="NCIT:C5360"} ! epicardium

[Term]
id: MONDO:0003255
name: mediastinal granular cell myoblastoma
def: "An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum." [NCIT:C6601]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "granular cell myoblastoma of mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell myoblastoma of the mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell neoplasm of mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell neoplasm of the mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell tumor of mediastinum" EXACT [DOID:5046, NCIT:C6601]
synonym: "granular cell tumor of the mediastinum" EXACT [NCIT:C6601]
synonym: "granular cell tumour of mediastinum" EXACT OMO:0003005 []
synonym: "granular cell tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "mediastinal granular cell myoblastoma" EXACT [NCIT:C6601]
synonym: "mediastinal granular cell neoplasm" EXACT [NCIT:C6601]
synonym: "mediastinal granular cell tumor" EXACT [NCIT:C6601]
synonym: "mediastinal granular cell tumour" EXACT OMO:0003005 []
synonym: "mediastinum granular cell tumor" EXACT [MONDO:patterns/location]
synonym: "mediastinum granular cell tumour" EXACT OMO:0003005 []
xref: DOID:5046 {source="MONDO:equivalentTo"}
xref: MEDGEN:235309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6601 {source="DOID:5046", source="MONDO:equivalentTo"}
xref: UMLS:C1334656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235309"}
is_a: MONDO:0006235 {source="DOID:5046", source="MONDO:Redundant", source="NCIT:C6601"} ! granular cell tumor
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6601"} ! neoplasm of mediastinum
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: disease_has_location UBERON:0003728 ! mediastinum
relationship: excluded_subClassOf MONDO:0003098 {source="DOID:5046", source="https://orcid.org/0000-0001-5208-3432"} ! mediastinal neural neoplasm

[Term]
id: MONDO:0003256
name: neurohypophysis granular cell tumor
def: "A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)" [NCIT:C7017]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "granular cell tumor of Neurohypophysis" EXACT [NCIT:C7017]
synonym: "granular cell tumor of neurohypophysis" EXACT []
synonym: "granular cell tumor of the neurohypophysis" EXACT [MONDO:0006236, NCIT:C7017]
synonym: "granular cell tumor of the Neurohypophysis (WHO grade I)" EXACT [NCIT:C7017]
synonym: "granular cell tumor of the posterior pituitary gland" EXACT [NCIT:C7017]
synonym: "granular cell tumour of Neurohypophysis" EXACT OMO:0003005 []
synonym: "granular cell tumour of neurohypophysis" EXACT OMO:0003005 []
synonym: "granular cell tumour of the neurohypophysis" EXACT OMO:0003005 []
synonym: "granular cell tumour of the Neurohypophysis (WHO grade I)" EXACT OMO:0003005 []
synonym: "granular cell tumour of the posterior pituitary gland" EXACT OMO:0003005 []
synonym: "neurohypophysis granular cell tumor" EXACT [MONDO:patterns/location]
xref: DOID:5047 {source="MONDO:equivalentTo"}
xref: EFO:1000285 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9582/0 {source="NCIT:C7017"}
xref: MEDGEN:232255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7017 {source="DOID:5047", source="EFO:1000285", source="MONDO:equivalentTo"}
xref: SCTID:699331002 {source="DOID:5047", source="MONDO:equivalentTo"}
xref: UMLS:C1333873 {source="MONDO:equivalentTo", source="MEDGEN:232255", source="MONDO:MEDGEN"}
is_a: MONDO:0003257 {source="DOID:5047", source="MONDO:Redundant", source="NCIT:C7017"} ! posterior pituitary gland neoplasm
is_a: MONDO:0006235 {source="DOID:5047", source="MONDO:Redundant", source="NCIT:C7017"} ! granular cell tumor
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: disease_has_location UBERON:0002198 ! neurohypophysis

[Term]
id: MONDO:0003257
name: posterior pituitary gland neoplasm
def: "A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma." [NCIT:C7157]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of neurohypophysis" EXACT [MONDO:patterns/neoplasm]
synonym: "Neurohypophysis neoplasm" EXACT [NCIT:C7157]
synonym: "neurohypophysis neoplasm" EXACT []
synonym: "neurohypophysis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Neurohypophysis tumor" EXACT [NCIT:C7157]
synonym: "neurohypophysis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Neurohypophysis tumour" EXACT OMO:0003005 []
synonym: "neurohypophysis tumour" EXACT OMO:0003005 []
synonym: "PITUICYTOMA, benign" EXACT [NCIT:C7157]
synonym: "posterior pituitary gland neoplasm" EXACT [NCIT:C7157]
synonym: "posterior pituitary gland tumor" EXACT [NCIT:C7157]
synonym: "posterior pituitary gland tumour" EXACT OMO:0003005 []
synonym: "posterior pituitary neoplasm" EXACT [NCIT:C7157]
synonym: "posterior pituitary tumor" EXACT [DOID:5048, NCIT:C7157]
synonym: "posterior pituitary tumour" EXACT OMO:0003005 []
synonym: "tumor of neurohypophysis" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of neurohypophysis" EXACT OMO:0003005 []
xref: DOID:5048 {source="MONDO:equivalentTo"}
xref: MEDGEN:235368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7157 {source="DOID:5048", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334957 {source="MONDO:equivalentTo", source="MEDGEN:235368", source="MONDO:MEDGEN"}
is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C7157"} ! pituitary tumor
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002198 ! neurohypophysis
relationship: disease_has_location UBERON:0002198 {source="NCIT:C7157"} ! neurohypophysis

[Term]
id: MONDO:0003258
name: hobnail hemangioma
def: "A hemangioma characterized by the presence of hobnail endothelial cells." [NCIT:C27506]
subset: ordo_disorder {source="Orphanet:675362"}
subset: orphanet_rare {source="Orphanet:675362"}
subset: rare
synonym: "hobnail hemangioma" EXACT [NCIT:C27506]
synonym: "Targetoid Hemosiderotic hemangioma" EXACT [NCIT:C27506]
xref: DOID:505 {source="MONDO:equivalentTo"}
xref: MEDGEN:91080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27506 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:675362 {source="MONDO:equivalentTo"}
xref: SCTID:254790003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91080"}
is_a: MONDO:0006500 {source="DOID:505", source="NCIT:C27506"} ! hemangioma

[Term]
id: MONDO:0003259
name: obsolete melioidosis
is_obsolete: true
replaced_by: MONDO:0017775

[Term]
id: MONDO:0003260
name: adult cerebellar neoplasm
def: "A cerebellar neoplasm that occurs in an adult." [MONDO:design_pattern]
synonym: "adult cerebellar neoplasm" EXACT [NCIT:C5968]
synonym: "adult cerebellar neoplasms" EXACT [NCIT:C5968]
synonym: "adult cerebellar tumor" EXACT [NCIT:C5968]
synonym: "adult cerebellar tumors" EXACT [NCIT:C5968]
synonym: "adult cerebellar tumour" EXACT OMO:0003005 []
synonym: "adult cerebellar tumours" EXACT OMO:0003005 []
synonym: "cerebellar neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "neoplasm of adult cerebellum" EXACT [NCIT:C5968]
synonym: "neoplasm of the adult cerebellum" EXACT [NCIT:C5968]
synonym: "tumor of adult cerebellum" EXACT [DOID:5056, NCIT:C5968]
synonym: "tumor of the adult cerebellum" EXACT [NCIT:C5968]
synonym: "tumour of adult cerebellum" EXACT OMO:0003005 []
synonym: "tumour of the adult cerebellum" EXACT OMO:0003005 []
xref: DOID:5056 {source="MONDO:equivalentTo"}
xref: MEDGEN:272293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5968 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5056"}
xref: UMLS:C1332197 {source="MEDGEN:272293", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002913 {source="DOID:5056", source="MONDO:Redundant", source="NCIT:C5968"} ! cerebellar neoplasm
intersection_of: MONDO:0002913 ! cerebellar neoplasm
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003261
name: papillary meningioma of the cerebellum
def: "A papillary meningioma that affects the cerebellum." [NCIT:C5270]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cerebellar papillary meningioma" RELATED [NCIT:C5270]
synonym: "cerebellum papillary meningioma" EXACT [MONDO:patterns/location]
synonym: "papillary meningioma of cerebellum" EXACT [DOID:5057, NCIT:C5270]
synonym: "papillary meningioma of the cerebellum" EXACT [NCIT:C5270]
xref: DOID:5057 {source="MONDO:equivalentTo"}
xref: MEDGEN:234109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5270 {source="DOID:5057", source="MONDO:equivalentTo", source="NCIT:C5270"}
xref: UMLS:C1332902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234109"}
is_a: MONDO:0002913 {source="DOID:5057", source="MONDO:Redundant", source="NCIT:C5270"} ! cerebellar neoplasm
is_a: MONDO:0021088 {source="MONDO:Redundant", source="NCIT:C5270"} ! papillary meningioma
intersection_of: MONDO:0021088 ! papillary meningioma
intersection_of: disease_has_location UBERON:0002037 ! cerebellum

[Term]
id: MONDO:0003262
name: rhabdoid meningioma
def: "A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." [NCIT:C6909]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma, rhabdoid" EXACT [DOID:5058]
synonym: "meningioma, rhabdoid (morphologic abnormality)" EXACT [DOID:5058]
synonym: "papillary meningioma" RELATED [DOID:5058, NCIT:C3904]
synonym: "papillary meningioma (morphologic abnormality)" EXACT [DOID:5058]
synonym: "rhabdoid meningioma" EXACT [DOID:5058, NCIT:C6909]
xref: DOID:5058 {source="MONDO:equivalentTo"}
xref: MEDGEN:120445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6909 {source="DOID:5058", source="MONDO:equivalentTo"}
xref: ONCOTREE:RHM {source="MONDO:equivalentTo"}
xref: SCTID:399469000 {source="DOID:5058"}
xref: UMLS:C0259786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120445"}
is_a: MONDO:0016642 {source="DOID:5058", source="NCIT:C6909/inferred"} ! meningioma

[Term]
id: MONDO:0003263
name: childhood cerebellar neoplasm
def: "A neoplasm that affects the cerebellum and occurs during childhood." [NCIT:C5970]
synonym: "childhood cerebellar neoplasm" EXACT [NCIT:C5970]
synonym: "childhood cerebellar neoplasms" EXACT [NCIT:C5970]
synonym: "childhood cerebellar tumor" EXACT [NCIT:C5970]
synonym: "childhood cerebellar tumors" EXACT [NCIT:C5970]
synonym: "childhood cerebellar tumour" EXACT OMO:0003005 []
synonym: "childhood cerebellar tumours" EXACT OMO:0003005 []
synonym: "childhood neoplasm of cerebellum" EXACT [NCIT:C5970]
synonym: "childhood neoplasm of the cerebellum" EXACT [NCIT:C5970]
synonym: "childhood tumor of cerebellum" EXACT [NCIT:C5970]
synonym: "childhood tumor of the cerebellum" EXACT [NCIT:C5970]
synonym: "childhood tumour of cerebellum" EXACT OMO:0003005 []
synonym: "childhood tumour of the cerebellum" EXACT OMO:0003005 []
synonym: "paediatric cerebellar neoplasm" EXACT OMO:0003005 []
synonym: "paediatric cerebellar tumour" EXACT OMO:0003005 []
synonym: "paediatric neoplasm of cerebellum" EXACT OMO:0003005 []
synonym: "paediatric neoplasm of the cerebellum" EXACT OMO:0003005 []
synonym: "paediatric tumour of cerebellum" EXACT OMO:0003005 []
synonym: "paediatric tumour of the cerebellum" EXACT OMO:0003005 []
synonym: "pediatric cerebellar neoplasm" EXACT [NCIT:C5970]
synonym: "pediatric cerebellar tumor" EXACT [NCIT:C5970]
synonym: "pediatric neoplasm of cerebellum" EXACT [NCIT:C5970]
synonym: "pediatric neoplasm of the cerebellum" EXACT [NCIT:C5970]
synonym: "pediatric tumor of cerebellum" EXACT [DOID:5059, NCIT:C5970]
synonym: "pediatric tumor of the cerebellum" EXACT [NCIT:C5970]
xref: DOID:5059 {source="MONDO:equivalentTo"}
xref: MEDGEN:234124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5970 {source="DOID:5059", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332959 {source="MEDGEN:234124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002913 {source="DOID:5059", source="MONDO:Redundant", source="NCIT:C5970"} ! cerebellar neoplasm
is_a: MONDO:0002915 {source="MONDO:Redundant", source="NCIT:C5970"} ! childhood infratentorial neoplasm
intersection_of: MONDO:0002913 {source="NCIT:C5970"} ! cerebellar neoplasm
intersection_of: MONDO:0002915 {source="NCIT:C5970"} ! childhood infratentorial neoplasm

[Term]
id: MONDO:0003264
name: basosquamous carcinoma
alt_id: MONDO:0006413
def: "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." [NCIT:C2922]
subset: otar {source="MONDO:OTAR"}
synonym: "Basisquamous cell carcinoma" EXACT [DOID:5063]
synonym: "basosquamous carcinoma" EXACT [NCIT:C2922]
synonym: "basosquamous cell carcinoma" EXACT [DOID:5063, NCIT:C2922]
synonym: "basosquamous tumor, malignant" EXACT [NCIT:C2922]
synonym: "metatypical carcinoma" EXACT [DOID:5063]
synonym: "metatypical carcinoma (morphologic abnormality)" EXACT [DOID:5063]
synonym: "skin basosquamous cell carcinoma" EXACT [NCIT:C2922]
synonym: "skin mixed basal and squamous cell carcinoma" EXACT [NCIT:C2922]
xref: DOID:5063 {source="MONDO:equivalentTo"}
xref: EFO:1000529 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8094/3 {source="NCIT:C2922"}
xref: MEDGEN:2841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002281 {source="MONDO:equivalentTo", source="DOID:5063"}
xref: NCIT:C2922 {source="EFO:1000529", source="MONDO:equivalentTo", source="DOID:5063"}
xref: SCTID:254702000 {source="DOID:5063", source="MONDO:directSiblingOf"}
xref: SCTID:37304002 {source="DOID:5063"}
xref: SCTID:6641007 {source="DOID:5063"}
xref: UMLS:C0007118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2841"}
is_a: MONDO:0004993 {source="DOID:5063/inferred", source="EFO:1000529", source="EFO:1000529/inferred", source="MESH:D002281", source="NCIT:C2922/inferred"} ! carcinoma
is_a: MONDO:0005341 {source="DOID:5063", source="NCIT:C2922"} ! skin basal cell carcinoma
relationship: disease_has_location CL:0000646 {source="EFO:0000784"} ! basal cell

[Term]
id: MONDO:0003265
name: adjustment disorder
def: "A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present." [NCIT:C92191]
subset: otar {source="MONDO:OTAR"}
synonym: "adaptation reaction" RELATED []
synonym: "adjustment disease" EXACT [DOID:507]
synonym: "adjustment disorder" EXACT [MESH:D000275, NCIT:C92191]
synonym: "adjustment reaction" EXACT [DOID:507]
synonym: "disorder, adjustment" RELATED [MESH:D000275]
synonym: "disorder, reactive" RELATED [MESH:D000275]
synonym: "disorders, adjustment" RELATED [MESH:D000275]
synonym: "disorders, reactive" RELATED [MESH:D000275]
xref: DOID:507 {source="MONDO:equivalentTo"}
xref: ICD10CM:F90-98 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:309 {source="DOID:507"}
xref: ICD9:309.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:309.9 {source="DOID:507", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000275 {source="MONDO:equivalentTo"}
xref: NCIT:C92191 {source="MONDO:equivalentTo"}
xref: SCTID:17226007 {source="DOID:507", source="MONDO:equivalentTo"}
xref: SCTID:192068001 {source="DOID:507"}
xref: SCTID:268781004 {source="DOID:507"}
xref: SCTID:367487002 {source="DOID:507"}
xref: SCTID:63608001 {source="DOID:507"}
xref: UMLS:C0001546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1338"}
is_a: MONDO:0002025 {source="DOID:507", source="MESH:D000275/inferred", source="NCIT:C92191"} ! psychiatric disorder
is_a: MONDO:0005084 ! mental disorder

[Term]
id: MONDO:0003266
name: ependymal tumor
def: "A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)" [NCIT:C6770]
subset: disease_grouping
subset: gard_rare {source="GARD:16527", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:301"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ependymal neoplasm" EXACT [DOID:5074, NCIT:C6770]
synonym: "ependymal tumor" EXACT [MONDO:0017605, NCIT:C6770]
synonym: "ependymal tumors" EXACT [DOID:5074]
synonym: "ependymal tumours" EXACT OMO:0003005 []
synonym: "ependymomal tumor" RELATED [ONCOTREE:EPMT]
synonym: "ependymomal tumour" RELATED OMO:0003005 []
xref: EFO:1000027 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16527 {source="MONDO:GARD"}
xref: ICD10CM:C71.7 {source="Orphanet:301", source="Orphanet:301/ntbt"}
xref: MEDGEN:232459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6770 {source="MONDO:equivalentTo"}
xref: ONCOTREE:EPMT {source="MONDO:equivalentTo"}
xref: Orphanet:301 {source="MONDO:equivalentTo"}
xref: UMLS:C1333407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232459"}
is_a: MONDO:0021042 {source="NCIT:C6770"} ! glioma
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure UBERON:0004670 ! ependyma

[Term]
id: MONDO:0003267
name: obsolete myxopapillary ependymoma
is_obsolete: true
replaced_by: MONDO:0016699

[Term]
id: MONDO:0003268
name: mixed glioma
def: "A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes)." [NCIT:C3903]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glioma, mixed" EXACT [NCIT:C3903]
synonym: "glioma, mixed, malignant" EXACT [NCIT:C3903]
synonym: "mixed glial neoplasm" EXACT [NCIT:C3903]
synonym: "mixed glial tumor" EXACT [NCIT:C3903]
synonym: "mixed glial tumour" EXACT OMO:0003005 []
synonym: "mixed glioma" EXACT [NCIT:C3903]
synonym: "mixed glioma (morphologic abnormality)" EXACT [DOID:5076]
synonym: "mixed gliomas" EXACT [DOID:5076, MTH:NOCODE]
synonym: "mixed neuroglial neoplasm" EXACT [NCIT:C3903]
synonym: "mixed neuroglial tumor" EXACT [DOID:5076, NCIT:C3903]
synonym: "mixed neuroglial tumour" EXACT OMO:0003005 []
xref: DOID:5076 {source="MONDO:equivalentTo"}
xref: ICDO:9382/3 {source="NCIT:C3903"}
xref: MEDGEN:75477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005910 {source="DOID:5076"}
xref: NCIT:C3903 {source="MONDO:equivalentTo", source="DOID:5076"}
xref: SCTID:22217002 {source="DOID:5076"}
xref: SCTID:443937008 {source="MONDO:equivalentTo", source="DOID:5076"}
xref: UMLS:C0259783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75477"}
is_a: MONDO:0021042 {source="NCIT:C3903/inferred"} ! glioma
is_a: MONDO:0021043 {source="NCIT:C3903"} ! mixed neoplasm

[Term]
id: MONDO:0003269
name: obsolete subependymal giant cell astrocytoma
is_obsolete: true
replaced_by: MONDO:0016693

[Term]
id: MONDO:0003270
name: obsolete ganglioglioma
is_obsolete: true
replaced_by: MONDO:0016733

[Term]
id: MONDO:0003271
name: iodine hypothyroidism
xref: DOID:5083 {source="MONDO:equivalentTo"}
xref: ICD9:244.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5083"}
xref: MEDGEN:509535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190279008 {source="MONDO:equivalentTo", source="DOID:5083"}
xref: UMLS:C0154159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509535"}
is_a: MONDO:0005420 {source="DOID:5083"} ! hypothyroidism

[Term]
id: MONDO:0003272
name: mixed epithelial stromal tumor
synonym: "mixed epithelial stromal tumor" EXACT [DOID:5088]
xref: DOID:5088 {source="MONDO:equivalentTo"}
xref: NCIT:C37265 {source="MONDO:relatedTo", source="DOID:5088"}
is_a: MONDO:0021043 {source="https://orcid.org/0000-0001-5208-3432"} ! mixed neoplasm
relationship: excluded_subClassOf MONDO:0005853 {source="DOID:5088", source="https://orcid.org/0000-0001-5208-3432"} ! malignant mixed neoplasm

[Term]
id: MONDO:0003273
name: sternum cancer
def: "A malignant neoplasm involving the sternum" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of sternum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sternum" EXACT [MONDO:patterns/cancer, NCIT:C8408]
synonym: "malignant neoplasm of the sternum" EXACT [NCIT:C8408]
synonym: "malignant sternal neoplasm" EXACT [DOID:5090]
synonym: "malignant sternal tumor" EXACT [DOID:5090, NCIT:C8408]
synonym: "malignant sternal tumour" EXACT OMO:0003005 []
synonym: "malignant sternum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of sternum" EXACT [NCIT:C8408]
synonym: "malignant tumor of the sternum" EXACT [NCIT:C8408]
synonym: "malignant tumour of sternum" EXACT OMO:0003005 []
synonym: "malignant tumour of the sternum" EXACT OMO:0003005 []
synonym: "neoplasm of sternum" BROAD [DOID:5090]
synonym: "sternal tumor" BROAD EXCLUDE [DOID:5090]
synonym: "sternal tumour" BROAD OMO:0003005 []
synonym: "sternum cancer" EXACT [MONDO:patterns/location]
xref: DOID:5090 {source="MONDO:equivalentTo"}
xref: MEDGEN:277996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6730 {source="DOID:5090"}
xref: NCIT:C8408 {source="DOID:5090", source="MONDO:equivalentTo"}
xref: SCTID:126559003 {source="DOID:5090"}
xref: UMLS:C1382025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277996"}
is_a: MONDO:0002129 {source="DOID:5090", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone cancer
is_a: MONDO:0021578 {source="MONDO:Redundant", source="NCIT:C8408"} ! sternal neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000975 ! sternum

[Term]
id: MONDO:0003274
name: thoracic cancer
def: "A primary or metastatic malignant neoplasm affecting the tissues of the thorax." [NCIT:C3576]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of thoracic segment of trunk" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the thorax" EXACT [NCIT:C3576]
synonym: "malignant neoplasm of thoracic segment of trunk" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of thorax" EXACT [NCIT:C3576]
synonym: "malignant thoracic neoplasm" EXACT [NCIT:C3576]
synonym: "malignant thoracic segment of trunk neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant thoracic tumor" EXACT [NCIT:C3576]
synonym: "malignant thoracic tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of the thorax" EXACT [NCIT:C3576]
synonym: "malignant tumor of thorax" EXACT [NCIT:C3576]
synonym: "malignant tumour of the thorax" EXACT OMO:0003005 []
synonym: "malignant tumour of thorax" EXACT OMO:0003005 []
synonym: "thoracic segment of trunk cancer" EXACT [MONDO:patterns/location]
synonym: "thoracic tumor" BROAD [DOID:5093, NCIT:C3406]
synonym: "thoracic tumour" BROAD OMO:0003005 []
synonym: "thorax cancer" EXACT [DOID:5093]
synonym: "thorax neoplasm" BROAD [DOID:5093]
synonym: "tumor of thorax" BROAD [DOID:5093]
synonym: "tumour of thorax" BROAD OMO:0003005 []
xref: DOID:5093 {source="MONDO:equivalentTo"}
xref: ICD10CM:C76.1 {source="DOID:5093"}
xref: ICD9:195.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5093"}
xref: MEDGEN:56320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013899 {source="DOID:5093"}
xref: NCIT:C3406 {source="DOID:5093"}
xref: NCIT:C3576 {source="MONDO:equivalentTo", source="DOID:5093"}
xref: SCTID:188361007 {source="MONDO:equivalentTo", source="DOID:5093"}
xref: SCTID:188365003 {source="DOID:5093"}
xref: SCTID:255058005 {source="DOID:5093"}
xref: UMLS:C0153661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56320"}
is_a: MONDO:0004992 {source="DOID:5093", source="DOID:5093/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3576"} ! neoplasm of thorax
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000915 ! thoracic segment of trunk

[Term]
id: MONDO:0003275
name: middle ear cancer
def: "A malignant neoplasm involving the middle ear" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of middle ear" EXACT [MONDO:patterns/cancer]
synonym: "malignant middle ear neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant middle Ear tumor" EXACT [NCIT:C4765]
synonym: "malignant middle Ear tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of middle ear" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the middle Ear" EXACT [NCIT:C4765]
synonym: "malignant tumor of middle Ear" EXACT [NCIT:C4765]
synonym: "malignant tumor of the middle Ear" EXACT [NCIT:C4765]
synonym: "malignant tumour of middle Ear" EXACT OMO:0003005 []
synonym: "malignant tumour of the middle Ear" EXACT OMO:0003005 []
synonym: "middle ear cancer" EXACT [MONDO:patterns/location]
synonym: "neoplasm of middle ear" RELATED EXCLUDE [DOID:5099]
synonym: "tumor of the middle ear" BROAD [DOID:5099, NCIT:C4412]
synonym: "tumour of the middle ear" BROAD OMO:0003005 []
xref: DOID:5099 {source="MONDO:equivalentTo"}
xref: MEDGEN:99218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4412 {source="DOID:5099"}
xref: NCIT:C4765 {source="MONDO:equivalentTo"}
xref: SCTID:127006003 {source="DOID:5099"}
xref: SCTID:363359008 {source="MONDO:equivalentTo"}
xref: UMLS:C0496788 {source="MEDGEN:99218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003276 {source="DOID:5099", source="MONDO:Redundant", source="NCIT:C4765/inferred"} ! middle ear disorder
is_a: MONDO:0003277 {source="MONDO:Redundant", source="NCIT:C4765"} ! malignant ear neoplasm
is_a: MONDO:0021366 {source="MONDO:Redundant", source="NCIT:C4765"} ! neoplasm of middle ear
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0003276
name: middle ear disorder
def: "A disease involving the middle ear." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of middle ear" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of middle ear" EXACT []
synonym: "disorder of middle ear" EXACT [MONDO:patterns/location_top]
synonym: "middle ear disease" EXACT [MONDO:patterns/location]
synonym: "middle ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "middle Ear disorder" EXACT [NCIT:C27065]
xref: DOID:5100 {source="MONDO:equivalentTo"}
xref: ICD10CM:H65-H75 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:124401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27065 {source="MONDO:equivalentTo", source="DOID:5100"}
xref: SCTID:155260002 {source="DOID:5100"}
xref: SCTID:194327004 {source="DOID:5100"}
xref: SCTID:232250008 {source="DOID:5100"}
xref: SCTID:300195001 {source="DOID:5100"}
xref: SCTID:68996008 {source="MONDO:equivalentTo", source="DOID:5100"}
xref: UMLS:C0271428 {source="MEDGEN:124401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002409 {source="DOID:5100"} ! auditory system disorder
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27065"} ! disorder of ear
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001756 ! middle ear
relationship: disease_has_location UBERON:0001756 {source="NCIT:C27065"} ! middle ear

[Term]
id: MONDO:0003277
name: malignant ear neoplasm
def: "A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "auricular cancer" RELATED [DOID:5101]
synonym: "cancer of ear" EXACT [MONDO:patterns/cancer]
synonym: "ear cancer" EXACT [MONDO:patterns/location]
synonym: "malignant Ear neoplasm" EXACT [NCIT:C9337]
synonym: "malignant ear neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Ear tumor" EXACT [NCIT:C9337]
synonym: "malignant Ear tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of Ear" EXACT [NCIT:C9337]
synonym: "malignant neoplasm of ear" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the Ear" EXACT [NCIT:C9337]
synonym: "malignant tumor of Ear" EXACT [NCIT:C9337]
synonym: "malignant tumor of ear" EXACT [DOID:5101, NCIT:C9337]
synonym: "malignant tumor of the Ear" EXACT [NCIT:C9337]
synonym: "malignant tumour of Ear" EXACT OMO:0003005 []
synonym: "malignant tumour of ear" EXACT OMO:0003005 []
synonym: "malignant tumour of the Ear" EXACT OMO:0003005 []
xref: DOID:5101 {source="MONDO:equivalentTo"}
xref: MEDGEN:418247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004428 {source="DOID:5101", source="MONDO:equivalentTo"}
xref: NCIT:C9337 {source="MONDO:equivalentTo"}
xref: SCTID:443648003 {source="MONDO:equivalentTo"}
xref: UMLS:C2350059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418247"}
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C9337"} ! head and neck cancer
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C9337"} ! ear neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001690 ! ear
relationship: excluded_subClassOf MONDO:0004532 {source="DOID:5101", source="https://orcid.org/0000-0001-5208-3432"} ! auditory system cancer

[Term]
id: MONDO:0003278
name: inner ear cancer
def: "A malignant neoplasm involving the internal ear." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of internal ear" EXACT [MONDO:patterns/cancer]
synonym: "internal ear cancer" EXACT [MONDO:patterns/location]
synonym: "malignant internal ear neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of internal ear" EXACT [MONDO:patterns/cancer]
xref: DOID:5102 {source="MONDO:equivalentTo"}
xref: NCIT:C39784 {source="DOID:5102", source="MONDO:directSiblingOf"}
is_a: MONDO:0002467 {source="DOID:5102", source="MONDO:Redundant", source="MONDO:indirect"} ! inner ear disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001846 ! internal ear

[Term]
id: MONDO:0003279
name: testicular infarct
def: "Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis." [NCIT:P378]
synonym: "infarction of testis" EXACT [DOID:5104]
synonym: "testicular infarction" EXACT [DOID:5104, NCIT:C27617]
xref: DOID:5104 {source="MONDO:equivalentTo"}
xref: MEDGEN:95919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27617 {source="DOID:5104", source="MONDO:equivalentTo"}
xref: SCTID:33793000 {source="DOID:5104", source="MONDO:equivalentTo"}
xref: UMLS:C0392041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:95919"}
is_a: MONDO:0002329 {source="DOID:5104", source="NCIT:C27617/inferred"} ! testicular disorder

[Term]
id: MONDO:0003280
name: swayback
def: "Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)" [MESH:D013540]
synonym: "swayback of sheep" EXACT [DOID:5112]
xref: DOID:5112 {source="MONDO:equivalentTo"}
xref: MESH:D013540 {source="DOID:5112", source="MONDO:equivalentTo"}
xref: SCTID:61960001 {source="MONDO:equivalentTo"}
xref: SCTID:78714004 {source="DOID:5112"}
is_a: MONDO:0024985 {source="MESH:D013540"} ! sheep disease
is_a: MONDO:0700103 ! nutritional deficiency disease, non-human animal
property_value: RO:0002175 NCBITaxon:9940 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0003281
name: ovarian cystic teratoma
def: "A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ovary cystic teratoma" EXACT [MONDO:patterns/location]
xref: DOID:5118 {source="MONDO:equivalentTo"}
xref: MEDGEN:235415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7283 {source="MONDO:equivalentTo", source="DOID:5118"}
xref: UMLS:C1335155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235415"}
is_a: MONDO:0002379 {source="DOID:5118", source="MONDO:Redundant", source="NCIT:C7283"} ! cystic teratoma
intersection_of: MONDO:0002379 ! cystic teratoma
intersection_of: disease_has_location UBERON:0000992 ! ovary
relationship: excluded_subClassOf MONDO:0003820 {source="DOID:5118", source="https://orcid.org/0000-0001-5208-3432"} ! mature ovarian teratoma

[Term]
id: MONDO:0003282
name: ovarian cyst
synonym: "corpus luteum cyst" RELATED [MESH:D010048]
synonym: "corpus luteum cysts" RELATED [MESH:D010048]
synonym: "cyst, corpus luteum" RELATED [MESH:D010048]
synonym: "cyst, ovarian" RELATED [MESH:D010048]
synonym: "cysts, corpus luteum" RELATED [MESH:D010048]
synonym: "cysts, ovarian" RELATED [MESH:D010048]
synonym: "ovarian cyst" EXACT [MESH:D010048, MONDO:ambiguous]
synonym: "ovarian cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:5119 {source="MONDO:equivalentTo"}
xref: HP:0000138 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N83.2 {source="DOID:5119"}
xref: ICD9:620.2 {source="MONDO:relatedTo", source="DOID:5119", source="MONDO:i2s"}
xref: MEDGEN:14540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010048 {source="MONDO:equivalentTo"}
xref: SCTID:198586000 {source="DOID:5119"}
xref: SCTID:79883001 {source="MONDO:equivalentTo"}
xref: UMLS:C0029927 {source="MEDGEN:14540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005558 {source="DOID:5119", source="MESH:D010048"} ! ovarian disorder
property_value: IAO:0000589 "ovarian cyst (disease)" xsd:string

[Term]
id: MONDO:0003283
name: epididymal neoplasm
def: "A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma." [NCIT:C39958]
synonym: "epididymal neoplasm" EXACT [NCIT:C39958]
synonym: "epididymis neoplasm" EXACT []
synonym: "epididymis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "epididymis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "epididymis tumour" EXACT OMO:0003005 []
synonym: "neoplasm of epididymis" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of epididymus" EXACT []
synonym: "tumor of epididymis" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of epididymis" EXACT OMO:0003005 []
xref: DOID:512 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39958 {source="DOID:512", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126902008 {source="DOID:512", source="MONDO:equivalentTo"}
xref: UMLS:C0346239 {source="MEDGEN:138047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="DOID:512/inferred", source="MONDO:Entailed", source="NCIT:C39958/inferred"} ! male reproductive system disorder
is_a: MONDO:0005070 {source="DOID:512/inferred", source="MONDO:Redundant", source="NCIT:C39958/inferred"} ! neoplasm
is_a: MONDO:0006054 {source="MONDO:Entailed", source="NCIT:C39958/inferred"} ! reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001301 ! epididymis
relationship: disease_has_location UBERON:0001301 {source="NCIT:C39958"} ! epididymis

[Term]
id: MONDO:0003284
name: mediastinum leiomyoma
def: "A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of mediastinum" EXACT [DOID:5123, NCIT:C6598]
synonym: "leiomyoma of the mediastinum" EXACT [NCIT:C6598]
synonym: "mediastinal leiomyoma" EXACT [NCIT:C6598]
synonym: "mediastinum leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:5123 {source="MONDO:equivalentTo"}
xref: MEDGEN:277350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6598 {source="DOID:5123", source="MONDO:equivalentTo"}
xref: UMLS:C1334659 {source="MEDGEN:277350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001572 {source="DOID:5123", source="MONDO:Redundant", source="NCIT:C6598"} ! leiomyoma
is_a: MONDO:0021521 {source="MONDO:Redundant", source="NCIT:C6598/inferred"} ! benign neoplasm of mediastinum
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0003285
name: fallopian tube leiomyoma
def: "A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40127]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube leiomyoma" EXACT [MONDO:patterns/location, NCIT:C40127]
synonym: "leiomyoma of fallopian tube" EXACT [MONDO:design_pattern]
xref: DOID:5124 {source="MONDO:equivalentTo"}
xref: MEDGEN:309126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40127 {source="DOID:5124", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1517115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309126"}
is_a: MONDO:0000645 {source="DOID:5124", source="MONDO:Redundant", source="NCIT:C40127"} ! fallopian tube benign neoplasm
is_a: MONDO:0001572 {source="DOID:5124", source="MONDO:Redundant", source="NCIT:C40127"} ! leiomyoma
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003286
name: extrahepatic bile duct leiomyoma
def: "A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5855]
synonym: "extrahepatic bile duct leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5855]
synonym: "leiomyoma of extrahepatic bile duct" EXACT [NCIT:C5855]
synonym: "leiomyoma of the extrahepatic bile duct" EXACT [DOID:5125, NCIT:C5855]
xref: DOID:5125 {source="MONDO:equivalentTo"}
xref: MEDGEN:232169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5855 {source="DOID:5125", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232169"}
is_a: MONDO:0000385 {source="DOID:5125", source="DOID:5125/inferred", source="MONDO:Redundant"} ! benign digestive system neoplasm
is_a: MONDO:0001572 {source="DOID:5125", source="MONDO:Redundant", source="NCIT:C5855"} ! leiomyoma
is_a: MONDO:0002514 {source="DOID:5125/inferred", source="MONDO:Redundant", source="NCIT:C5855/inferred"} ! hepatobiliary neoplasm
is_a: MONDO:0002887 {source="DOID:5125", source="MONDO:Redundant", source="NCIT:C5855/inferred"} ! bile duct disorder
is_a: MONDO:0021385 {source="MONDO:Redundant", source="NCIT:C5855/inferred"} ! extrahepatic bile duct neoplasm
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0003287
name: central nervous system leiomyoma
def: "A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity." [NCIT:C6998]
synonym: "central nervous system leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6998]
synonym: "leiomyoma of central nervous system" EXACT [NCIT:C6998]
synonym: "leiomyoma of CNS" EXACT [DOID:5126, NCIT:C6998]
synonym: "leiomyoma of the central nervous system" EXACT [NCIT:C6998]
synonym: "leiomyoma of the CNS" EXACT [NCIT:C6998]
xref: DOID:5126 {source="MONDO:equivalentTo"}
xref: MEDGEN:232695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6998 {source="DOID:5126", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334382 {source="MONDO:equivalentTo", source="MEDGEN:232695", source="MONDO:MEDGEN"}
is_a: MONDO:0000628 {source="DOID:5126", source="MONDO:Entailed", source="MONDO:Redundant"} ! central nervous system organ benign neoplasm
is_a: MONDO:0001572 {source="DOID:5126", source="MONDO:Redundant", source="NCIT:C6998"} ! leiomyoma
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003288
name: bizarre leiomyoma
def: "A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm." [NCIT:C4257]
synonym: "atypical leiomyoma" EXACT [DOID:5127, NCIT:C4257]
synonym: "bizarre leiomyoma" EXACT [NCIT:C4257]
synonym: "pleomorphic leiomyoma" EXACT [DOID:5127, NCIT:C4257, NCIT:C6513]
synonym: "Symplastic leiomyoma" EXACT [DOID:5127]
xref: DOID:5127 {source="MONDO:equivalentTo"}
xref: ICDO:8893/0 {source="NCIT:C4257"}
xref: MEDGEN:90789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4257 {source="DOID:5127", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:48897006 {source="DOID:5127"}
xref: UMLS:C0334478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90789"}
is_a: MONDO:0001572 {source="DOID:5127", source="NCIT:C4257"} ! leiomyoma

[Term]
id: MONDO:0003289
name: deep leiomyoma
def: "A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6512]
synonym: "deep leiomyoma" EXACT [NCIT:C6512]
xref: DOID:5128 {source="MONDO:equivalentTo"}
xref: MEDGEN:234195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6512 {source="DOID:5128", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234195"}
is_a: MONDO:0001572 {source="DOID:5128", source="NCIT:C6512"} ! leiomyoma

[Term]
id: MONDO:0003290
name: simple partial epilepsy
xref: DOID:5129 {source="MONDO:equivalentTo"}
xref: ICD9:345.51 {source="DOID:5129"}
is_a: MONDO:0005384 {source="DOID:5129"} ! focal epilepsy

[Term]
id: MONDO:0003291
name: leiomyoma cutis
def: "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous (skin) leiomyoma" EXACT [NCIT:C4482]
synonym: "cutaneous leiomyoma" EXACT [NCIT:C4482]
synonym: "leiomyoma cutis" EXACT [NCIT:C4482]
synonym: "leiomyoma of skin" EXACT [NCIT:C4482]
synonym: "leiomyoma of the skin" EXACT [DOID:5132, NCIT:C4482]
synonym: "leiomyoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin leiomyoma" EXACT [NCIT:C4482]
synonym: "zone of skin leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:5132 {source="MONDO:equivalentTo"}
xref: MEDGEN:87533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4482 {source="MONDO:equivalentTo", source="DOID:5132"}
xref: SCTID:254767008 {source="MONDO:equivalentTo", source="DOID:5132"}
xref: UMLS:C0346064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87533"}
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C4482"} ! leiomyoma
is_a: MONDO:0002300 {source="DOID:5132", source="NCIT:C4482/inferred"} ! dermis tumor
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C4482/inferred"} ! benign neoplasm of skin
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0003292
name: anus leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "anal leiomyoma" EXACT [NCIT:C5608]
synonym: "anus leiomyoma" EXACT [MONDO:patterns/location]
synonym: "leiomyoma of anus" EXACT [DOID:5134, NCIT:C5608]
synonym: "leiomyoma of the anus" EXACT [NCIT:C5608]
xref: DOID:5134 {source="MONDO:equivalentTo"}
xref: MEDGEN:231369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5608 {source="DOID:5134", source="MONDO:equivalentTo"}
xref: UMLS:C1332266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231369"}
is_a: MONDO:0001572 {source="DOID:5134", source="MONDO:Redundant", source="NCIT:C5608"} ! leiomyoma
is_a: MONDO:0002519 {source="DOID:5134", source="MONDO:Redundant", source="NCIT:C5608/inferred"} ! anus disorder
is_a: MONDO:0003046 {source="MONDO:Redundant", source="NCIT:C5608/inferred"} ! anus neoplasm
is_a: MONDO:0021469 {source="MONDO:Redundant", source="NCIT:C5608"} ! benign neoplasm of anus
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0003293
name: lung leiomyoma
def: "A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5660]
synonym: "leiomyoma of lung" EXACT [NCIT:C5660]
synonym: "leiomyoma of the lung" EXACT [NCIT:C5660]
synonym: "lung leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5660]
synonym: "pulmonary leiomyoma" EXACT [DOID:5136, NCIT:C5660]
xref: DOID:5136 {source="MONDO:equivalentTo"}
xref: MEDGEN:232710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5660 {source="DOID:5136", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:707374005 {source="DOID:5136", source="MONDO:equivalentTo"}
xref: UMLS:C1334447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232710"}
is_a: MONDO:0001572 {source="DOID:5136", source="MONDO:Redundant", source="NCIT:C5660"} ! leiomyoma
is_a: MONDO:0002732 {source="DOID:5136", source="MONDO:Redundant", source="NCIT:C5660"} ! lung benign neoplasm
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003294
name: pericardium leiomyoma
def: "A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of pericardium" EXACT [DOID:5137, NCIT:C6743]
synonym: "leiomyoma of the pericardium" EXACT [NCIT:C6743]
synonym: "pericardial leiomyoma" EXACT [NCIT:C6743]
synonym: "pericardium leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:5137 {source="MONDO:equivalentTo"}
xref: MEDGEN:233321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6743 {source="DOID:5137", source="MONDO:equivalentTo"}
xref: UMLS:C1335380 {source="MEDGEN:233321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000474 {source="DOID:5137", source="MONDO:Redundant", source="MONDO:indirect"} ! pericardium disorder
is_a: MONDO:0001572 {source="DOID:5137", source="MONDO:Redundant", source="NCIT:C6743"} ! leiomyoma
is_a: MONDO:0021514 {source="MONDO:Redundant", source="NCIT:C6743"} ! benign neoplasm of pericardium
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0002407 ! pericardium

[Term]
id: MONDO:0003295
name: leiomyomatosis
def: "A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body." [NCIT:C3748]
subset: otar {source="MONDO:OTAR"}
synonym: "leiomyomatosis" EXACT [NCIT:C3748]
synonym: "leiomyomatosis, no ICD-O subtype" EXACT [DOID:5138]
synonym: "leiomyomatosis, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:5138]
xref: DOID:5138 {source="MONDO:equivalentTo"}
xref: ICDO:8890/1 {source="NCIT:C3748"}
xref: MEDGEN:60203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018231 {source="DOID:5138", source="MONDO:equivalentTo"}
xref: NCIT:C3748 {source="DOID:5138", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:189789002 {source="DOID:5138"}
xref: SCTID:75210008 {source="DOID:5138"}
xref: UMLS:C0206654 {source="MEDGEN:60203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001572 {source="DOID:5138", source="MESH:D018231", source="NCIT:C3748"} ! leiomyoma

[Term]
id: MONDO:0003296
name: cellular leiomyoma
def: "A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." [NCIT:C4256]
synonym: "cellular leiomyoma" EXACT [NCIT:C4256]
synonym: "cellular leiomyoma (morphologic abnormality)" EXACT [DOID:5139]
xref: DOID:5139 {source="MONDO:equivalentTo"}
xref: ICDO:8892/0 {source="NCIT:C4256"}
xref: MEDGEN:83155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4256 {source="DOID:5139", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:90955001 {source="DOID:5139"}
xref: UMLS:C0334477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83155"}
is_a: MONDO:0001572 {source="DOID:5139", source="NCIT:C4256"} ! leiomyoma

[Term]
id: MONDO:0003297
name: gallbladder leiomyoma
def: "A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5747]
synonym: "gall bladder leiomyoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder leiomyoma" EXACT [NCIT:C5747]
synonym: "leiomyoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "leiomyoma of gallbladder" EXACT [NCIT:C5747]
synonym: "leiomyoma of the gallbladder" EXACT [DOID:5140, NCIT:C5747]
xref: DOID:5140 {source="MONDO:equivalentTo"}
xref: MEDGEN:234290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5747 {source="MONDO:equivalentTo", source="DOID:5140", source="MONDO:exact-label-match"}
xref: UMLS:C1333745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234290"}
is_a: MONDO:0000385 {source="DOID:5140", source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! benign digestive system neoplasm
is_a: MONDO:0001572 {source="DOID:5140", source="MONDO:Redundant", source="NCIT:C5747"} ! leiomyoma
is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! hepatobiliary neoplasm
is_a: MONDO:0005281 {source="DOID:5140", source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! gallbladder disorder
is_a: MONDO:0021503 {source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! benign neoplasm of gallbladder
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0003298
name: vulvar leiomyoma
def: "A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40326]
synonym: "leiomyoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar leiomyoma" EXACT [NCIT:C40326]
xref: DOID:5142 {source="MONDO:equivalentTo"}
xref: MEDGEN:274417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40326 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5142"}
xref: UMLS:C1520087 {source="MEDGEN:274417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000643 {source="DOID:5142", source="MONDO:Redundant"} ! vulvar benign neoplasm
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C40326"} ! leiomyoma
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0003299
name: colorectal leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5677]
synonym: "colorectal leiomyoma" EXACT [NCIT:C5677]
synonym: "colorectum leiomyoma" EXACT [MONDO:patterns/location]
synonym: "large bowel leiomyoma" EXACT [NCIT:C5677]
synonym: "large intestine leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5677]
synonym: "leiomyoma of large bowel" EXACT [NCIT:C5677]
synonym: "leiomyoma of large intestine" EXACT [DOID:5143, NCIT:C5677]
synonym: "leiomyoma of the large bowel" EXACT [NCIT:C5677]
synonym: "leiomyoma of the large intestine" EXACT [NCIT:C5677]
xref: DOID:5143 {source="MONDO:equivalentTo"}
xref: MEDGEN:272497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5677 {source="MONDO:equivalentTo", source="DOID:5143"}
xref: UMLS:C1333113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272497"}
is_a: MONDO:0001572 {source="DOID:5143", source="MONDO:Redundant", source="NCIT:C5677"} ! leiomyoma
is_a: MONDO:0003062 {source="DOID:5143", source="MONDO:Redundant", source="NCIT:C5677/inferred"} ! intestinal benign neoplasm
is_a: MONDO:0005335 {source="NCIT:C5677/inferred"} ! colorectal neoplasm
is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C5677"} ! benign neoplasm of large intestine
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0003300
name: appendix leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5514]
synonym: "appendiceal leiomyoma" EXACT [DOID:5146, NCIT:C5514]
synonym: "appendix leiomyoma" EXACT [NCIT:C5514]
synonym: "leiomyoma of appendix" EXACT [NCIT:C5514]
synonym: "leiomyoma of the appendix" EXACT [NCIT:C5514]
synonym: "leiomyoma of vermiform appendix" EXACT [MONDO:design_pattern]
synonym: "vermiform appendix leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:5146 {source="MONDO:equivalentTo"}
xref: MEDGEN:231077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5514 {source="DOID:5146", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332327 {source="MEDGEN:231077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C5514/inferred"} ! appendiceal neoplasm
is_a: MONDO:0001572 {source="DOID:5146", source="MONDO:Redundant", source="NCIT:C5514"} ! leiomyoma
is_a: MONDO:0021465 {source="MONDO:Redundant", source="NCIT:C5514"} ! benign neoplasm of appendix
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0003301
name: dartoic leiomyoma
def: "A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "dartoic leiomyoma" EXACT [DOID:5147, NCIT:C4483]
synonym: "dartoic myoma" EXACT [DOID:5147]
synonym: "dartos muscle leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "leiomyoma of dartos muscle" EXACT [MONDO:design_pattern]
xref: DOID:5147 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4483 {source="DOID:5147", source="MONDO:equivalentTo"}
xref: SCTID:254770007 {source="DOID:5147", source="MONDO:equivalentTo"}
xref: UMLS:C0346066 {source="MEDGEN:91078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003291 {source="NCIT:C4483"} ! leiomyoma cutis
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0013718 ! dartos muscle
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000383 {source="DOID:5147", source="https://orcid.org/0000-0001-5208-3432"} ! benign reproductive system neoplasm

[Term]
id: MONDO:0003302
name: epithelioid neurofibroma
def: "A rare neurofibroma with epithelioid morphology." [NCIT:C6558]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epithelioid neurofibroma" EXACT [DOID:5149, NCIT:C6558]
xref: DOID:5149 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6558 {source="DOID:5149", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:404032008 {source="DOID:5149", source="MONDO:equivalentTo"}
xref: UMLS:C1275264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226902"}
is_a: MONDO:0016755 {source="DOID:5149", source="NCIT:C6558"} ! neurofibroma

[Term]
id: MONDO:0003303
name: neurofibroma of gallbladder
def: "A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gall bladder neurofibroma" EXACT [MONDO:patterns/location]
synonym: "gallbladder neurofibroma" EXACT [NCIT:C5746]
synonym: "neurofibroma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "neurofibroma of gallbladder" EXACT [NCIT:C5746]
synonym: "neurofibroma of the gallbladder" EXACT [DOID:5150, NCIT:C5746]
xref: DOID:5150 {source="MONDO:equivalentTo"}
xref: MEDGEN:232540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5746 {source="MONDO:equivalentTo", source="DOID:5150"}
xref: UMLS:C1333751 {source="MEDGEN:232540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005411 {source="DOID:5150", source="MONDO:Entailed"} ! gallbladder cancer
is_a: MONDO:0016755 {source="DOID:5150", source="MONDO:Redundant", source="NCIT:C5746"} ! neurofibroma
intersection_of: MONDO:0016755 ! neurofibroma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0003304
name: plexiform neurofibroma
def: "An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "plexiform neurofibroma" EXACT [MONDO:ambiguous]
synonym: "plexiform neurofibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:5151 {source="MONDO:equivalentTo"}
xref: HP:0009732 {source="MONDO:otherHierarchy"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9550/0 {source="NCIT:C3797"}
xref: MEDGEN:64640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018318 {source="MONDO:equivalentTo", source="DOID:5151"}
xref: NCIT:C3797 {source="MONDO:equivalentTo", source="DOID:5151"}
xref: SCTID:403818001 {source="MONDO:equivalentTo", source="DOID:5151"}
xref: SCTID:41252002 {source="DOID:5151"}
xref: UMLS:C0206728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64640"}
is_a: MONDO:0016755 {source="DOID:5151", source="EFO:0000658", source="MESH:D018318", source="NCIT:C3797"} ! neurofibroma
property_value: IAO:0000589 "plexiform neurofibroma (disease)" xsd:string

[Term]
id: MONDO:0003305
name: cellular neurofibroma
def: "A neurofibroma characterized by the presence of areas with increased cellularity." [NCIT:C41427]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cellular neurofibroma" EXACT [NCIT:C41427]
xref: DOID:5152 {source="MONDO:equivalentTo"}
xref: MEDGEN:275699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41427 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5152"}
xref: UMLS:C1516371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275699"}
is_a: MONDO:0016755 {source="DOID:5152", source="NCIT:C41427"} ! neurofibroma

[Term]
id: MONDO:0003306
name: atypical neurofibroma
def: "A neurofibroma characterized by the presence of cellular pleomorphism." [NCIT:C41426]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "atypical neurofibroma" EXACT [NCIT:C41426]
xref: DOID:5153 {source="MONDO:equivalentTo"}
xref: MEDGEN:267320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41426 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5153"}
xref: UMLS:C1510961 {source="MEDGEN:267320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016755 {source="DOID:5153", source="NCIT:C41426"} ! neurofibroma

[Term]
id: MONDO:0003307
name: multiple mucosal neuroma
synonym: "multiple mucosal neuromas" RELATED [NCIT:C6559]
xref: DOID:5155 {source="MONDO:equivalentTo"}
xref: MEDGEN:233722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6559 {source="MONDO:equivalentTo", source="DOID:5155"}
xref: UMLS:C1334828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233722"}
is_a: MONDO:0002173 {source="DOID:5155", source="NCIT:C6559"} ! neuroma

[Term]
id: MONDO:0003308
name: pleural mesothelioma
def: "A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." [NCIT:C9351]
subset: otar {source="MONDO:OTAR"}
synonym: "benign pleural mesothelioma" NARROW [DOID:5157]
synonym: "mesothelioma of pleura" EXACT [DOID:5157, NCIT:C9351]
synonym: "mesothelioma of the pleura" EXACT [NCIT:C9351]
synonym: "pleura mesothelioma" EXACT [MONDO:patterns/location]
synonym: "pleural mesothelioma" EXACT [MONDO:ambiguous, NCIT:C9351]
synonym: "pleural mesothelioma (disease)" EXACT [MONDO:0006379]
synonym: "pleural mesothelioma (disease), benign" NARROW [MONDO:patterns/benign]
xref: DOID:5157 {source="MONDO:equivalentTo"}
xref: EFO:1000485 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100002 {source="MONDO:otherHierarchy"}
xref: MEDGEN:237179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9351 {source="DOID:5157", source="EFO:1000485", source="MONDO:equivalentTo"}
xref: ONCOTREE:PLMESO {source="MONDO:equivalentTo"}
xref: SCTID:109372009 {source="MONDO:equivalentTo"}
xref: UMLS:C1377913 {source="MEDGEN:237179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005065 {source="EFO:1000485", source="MONDO:Redundant", source="NCIT:C9351"} ! mesothelioma
is_a: MONDO:0021065 {source="MONDO:Redundant", source="NCIT:C9351"} ! pleural neoplasm
intersection_of: MONDO:0005065 ! mesothelioma
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0003309
name: obsolete pleural cancer
is_obsolete: true
replaced_by: MONDO:0006294

[Term]
id: MONDO:0003310
name: Monckeberg arteriosclerosis
def: "A type of arteriosclerosis in which calcification of the tunica media is the predominant feature." [NCIT:C35770]
synonym: "Mönckeberg arteriosclerosis" EXACT [NCIT:C35770]
xref: DOID:5161 {source="MONDO:equivalentTo"}
xref: MEDGEN:165784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35770 {source="MONDO:equivalentTo"}
xref: UMLS:C0887866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:165784"}
is_a: MONDO:0002277 {source="DOID:5161", source="NCIT:C35770"} ! arteriosclerosis disorder

[Term]
id: MONDO:0003311
name: endometrial stromal tumor
def: "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." [MESH:D036821]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial stroma neoplasm" EXACT []
synonym: "endometrial stroma tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "endometrial stroma tumour" EXACT OMO:0003005 []
synonym: "endometrial stromal neoplasm" EXACT [DOID:5166, NCIT:C8384]
synonym: "endometrial stromal tumor" EXACT []
synonym: "endometrial stromal tumor (morphologic abnormality)" EXACT [DOID:5166]
synonym: "endometrial stromal tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "neoplasm of endometrial stroma" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of endometrial stroma" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of endometrial stroma" EXACT OMO:0003005 []
xref: DOID:5166 {source="MONDO:equivalentTo"}
xref: EFO:1000920 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D036821 {source="MONDO:equivalentTo", source="DOID:5166"}
xref: SCTID:446887007 {source="MONDO:equivalentTo", source="DOID:5166"}
xref: SCTID:68738004 {source="DOID:5166"}
xref: UMLS:C0334695 {source="MEDGEN:87280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021251 {source="MONDO:Redundant"} ! endometrium neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002337 ! endometrial stroma
relationship: excluded_subClassOf MONDO:0011962 {source="DOID:5166", source="https://orcid.org/0000-0001-5208-3432"} ! endometrial cancer

[Term]
id: MONDO:0003312
name: ovarian endometrioid stromal and related neoplasms
def: "A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." [NCIT:C40065]
synonym: "endometrioid stromal and related neoplasms of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian endometrioid stromal and related neoplasms" EXACT [NCIT:C40065]
synonym: "ovarian endometrioid stromal sarcoma" RELATED [DOID:5169]
synonym: "ovary endometrioid stromal and related neoplasms" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5169 {source="MONDO:equivalentTo"}
xref: MEDGEN:926076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40065 {source="DOID:5169", source="MONDO:equivalentTo"}
xref: UMLS:C4288544 {source="MEDGEN:926076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0037742 {source="MONDO:Redundant", source="NCIT:C40065"} ! endometrioid stromal and related neoplasms
intersection_of: MONDO:0037742 ! endometrioid stromal and related neoplasms
intersection_of: disease_has_location UBERON:0000992 ! ovary
relationship: excluded_subClassOf MONDO:0002225 {source="DOID:5169", source="https://orcid.org/0000-0001-5208-3432"} ! ovarian sarcoma

[Term]
id: MONDO:0003313
name: endometrioid stromal sarcoma of the vagina
def: "A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma." [NCIT:C40270]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "endometrioid stromal sarcoma of the vagina" EXACT [NCIT:C40270]
synonym: "endometrioid stromal sarcoma of vagina" EXACT [MONDO:design_pattern]
synonym: "vagina endometrioid stromal sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vaginal endometrial stromal sarcoma" RELATED [DOID:5170]
xref: DOID:5170 {source="MONDO:equivalentTo"}
xref: MEDGEN:770969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40270 {source="MONDO:equivalentTo", source="DOID:5170"}
xref: UMLS:C3642329 {source="MEDGEN:770969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002140 {source="DOID:5170", source="MONDO:Redundant"} ! vagina sarcoma
is_a: MONDO:0003314 {comment="https://orcid.org/0000-0001-5208-3432"} ! endometrioid stromal and related neoplasms of the vagina
is_a: MONDO:0005089 {source="DOID:5170/inferred"} ! sarcoma
intersection_of: MONDO:0006745 ! endometrioid stromal sarcoma
intersection_of: disease_has_location UBERON:0000996 ! vagina
relationship: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0003314
name: endometrioid stromal and related neoplasms of the vagina
def: "A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." [NCIT:C40269]
synonym: "endometrioid stromal and related neoplasms of the vagina" EXACT [NCIT:C40269]
synonym: "endometrioid stromal and related neoplasms of vagina" EXACT [MONDO:design_pattern]
synonym: "endometrioid stromal and related tumors of the vagina" EXACT [NCIT:C40269]
synonym: "endometrioid stromal and related tumours of the vagina" EXACT OMO:0003005 []
synonym: "vagina endometrioid stromal and related neoplasms" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vaginal endometrial stromal tumor" RELATED [DOID:5171]
synonym: "vaginal endometrial stromal tumour" RELATED OMO:0003005 []
xref: DOID:5171 {source="MONDO:equivalentTo"}
xref: MEDGEN:927117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40269 {source="MONDO:equivalentTo", source="DOID:5171"}
xref: UMLS:C4289585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927117"}
is_a: MONDO:0037742 {source="MONDO:Redundant", source="NCIT:C40269"} ! endometrioid stromal and related neoplasms
intersection_of: MONDO:0037742 ! endometrioid stromal and related neoplasms
intersection_of: disease_has_location UBERON:0000996 ! vagina
relationship: excluded_subClassOf MONDO:0001402 {source="DOID:5171", source="https://orcid.org/0000-0001-5208-3432"} ! vaginal cancer

[Term]
id: MONDO:0003315
name: endometrium carcinoma in situ
def: "A carcinoma in situ involving a endometrium." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of endometrium" EXACT [DOID:5172, MONDO:patterns/carcinoma_in_situ]
synonym: "endometrial carcinoma in situ" EXACT [DOID:5172, NCIT:C9071]
synonym: "endometrium in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 endometrium carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:5172 {source="MONDO:equivalentTo"}
xref: ICD10CM:D07.0 {source="MONDO:equivalentTo", source="DOID:5172"}
xref: ICD9:233.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:189343006 {source="DOID:5172"}
xref: SCTID:92582009 {source="MONDO:equivalentTo", source="DOID:5172"}
xref: UMLS:C0346191 {source="MEDGEN:87545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004710 {source="MONDO:Redundant"} ! uterus carcinoma in situ
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0003316
name: nonanaplastic kidney Wilms tumor
def: "Wilms tumor of the kidney characterized by the absence of nuclear anaplasia." [NCIT:C6951]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "nonanaplastic kidney Wilms tumor" EXACT [NCIT:C6951]
synonym: "nonanaplastic renal Wilm's tumor" EXACT [DOID:5176, NCIT:C6951]
synonym: "nonanaplastic renal Wilm's tumour" EXACT OMO:0003005 []
synonym: "nonanaplastic renal Wilms tumor" EXACT [DOID:5176, NCIT:C6951]
synonym: "nonanaplastic renal Wilms tumour" EXACT OMO:0003005 []
synonym: "nonanaplastic renal Wilms' tumor" EXACT [NCIT:C6951]
synonym: "nonanaplastic renal Wilms' tumour" EXACT OMO:0003005 []
xref: MEDGEN:277434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6951 {source="MONDO:equivalentTo"}
xref: UMLS:C1335062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277434"}
is_a: MONDO:0019004 {source="NCIT:C6951"} ! kidney Wilms tumor

[Term]
id: MONDO:0003317
name: metachronous kidney Wilms' tumor
def: "Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "metachronous Wilms tumor" EXACT [NCIT:C38158]
synonym: "metachronous Wilms tumor of the kidney" EXACT [DOID:5178, NCIT:C38158]
synonym: "metachronous Wilms tumour" EXACT OMO:0003005 []
synonym: "metachronous Wilms tumour of the kidney" EXACT OMO:0003005 []
synonym: "metachronous Wilms' tumor" EXACT [NCIT:C38158]
synonym: "metachronous Wilms' tumour" EXACT OMO:0003005 []
xref: DOID:5178 {source="MONDO:equivalentTo"}
xref: MEDGEN:233696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38158 {source="DOID:5178", source="MONDO:equivalentTo"}
xref: UMLS:C1334705 {source="MONDO:equivalentTo", source="MEDGEN:233696", source="MONDO:MEDGEN"}
is_a: MONDO:0019004 {source="DOID:5178", source="MONDO:Redundant", source="NCIT:C38158"} ! kidney Wilms tumor
relationship: excluded_subClassOf MONDO:0008679 {source="DOID:5178", source="https://orcid.org/0000-0001-5208-3432"} ! Wilms tumor 1

[Term]
id: MONDO:0003318
name: mixed cell type kidney Wilms' tumor
def: "Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern)." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mixed cell type kidney adenosarcoma" EXACT [NCIT:C9149]
synonym: "mixed cell type kidney Wilms tumor" EXACT [NCIT:C9149]
synonym: "mixed cell type kidney Wilms tumour" EXACT OMO:0003005 []
synonym: "mixed cell type nephroblastoma" EXACT [NCIT:C9149]
synonym: "mixed cell type renal adenosarcoma" EXACT [NCIT:C9149]
synonym: "mixed cell type renal Wilm's tumor" EXACT [NCIT:C9149]
synonym: "mixed cell type renal Wilm's tumour" EXACT OMO:0003005 []
synonym: "mixed cell type renal Wilms tumor" EXACT [DOID:5179, NCIT:C9149]
synonym: "mixed cell type renal Wilms tumour" EXACT OMO:0003005 []
synonym: "mixed cell type renal Wilms' tumor" EXACT [NCIT:C9149]
synonym: "mixed cell type renal Wilms' tumour" EXACT OMO:0003005 []
synonym: "Mixed cell type Wilms tumor" EXACT [NCIT:C9149]
synonym: "Mixed cell type Wilms tumour" EXACT OMO:0003005 []
xref: DOID:5179 {source="MONDO:equivalentTo"}
xref: MEDGEN:76001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9149 {source="DOID:5179", source="MONDO:equivalentTo"}
xref: UMLS:C0279611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76001"}
is_a: MONDO:0019004 {source="DOID:5179", source="MONDO:Redundant", source="NCIT:C9149"} ! kidney Wilms tumor
relationship: excluded_subClassOf MONDO:0008679 {source="DOID:5179", source="https://orcid.org/0000-0001-5208-3432"} ! Wilms tumor 1

[Term]
id: MONDO:0003319
name: scrotum neoplasm
def: "A benign or malignant neoplasm that affects the scrotum." [NCIT:C4380]
synonym: "malignant scrotal neoplasm" NARROW [DOID:518]
synonym: "malignant tumor of scrotum" NARROW [DOID:518]
synonym: "malignant tumour of scrotum" NARROW OMO:0003005 []
synonym: "neoplasm of scrotum" EXACT [MONDO:patterns/neoplasm, NCIT:C4380]
synonym: "neoplasm of the scrotum" EXACT [NCIT:C4380]
synonym: "scrotal Ca" EXACT [DOID:518]
synonym: "scrotal neoplasm" EXACT [NCIT:C4380]
synonym: "scrotal tumor" EXACT [NCIT:C4380]
synonym: "scrotal tumour" EXACT OMO:0003005 []
synonym: "scrotum cancer" NARROW EXCLUDE [DOID:518]
synonym: "scrotum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "scrotum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "scrotum tumour" EXACT OMO:0003005 []
synonym: "tumor of scrotum" EXACT [MONDO:patterns/neoplasm, NCIT:C4380]
synonym: "tumor of the scrotum" EXACT [NCIT:C4380]
synonym: "tumour of scrotum" EXACT OMO:0003005 []
synonym: "tumour of the scrotum" EXACT OMO:0003005 []
xref: DOID:518 {source="MONDO:equivalentTo"}
xref: ICD10CM:C63.2 {source="DOID:518"}
xref: ICD9:187.7 {source="DOID:518"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3560 {source="DOID:518"}
xref: NCIT:C4380 {source="DOID:518", source="MONDO:equivalentTo"}
xref: SCTID:126905005 {source="DOID:518", source="MONDO:equivalentTo"}
xref: SCTID:154538005 {source="DOID:518"}
xref: SCTID:363454002 {source="DOID:518"}
xref: SCTID:93999006 {source="DOID:518"}
xref: UMLS:C0341790 {source="MEDGEN:83328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="DOID:518/inferred", source="MONDO:Redundant", source="NCIT:C4380/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0003320
name: blastema predominant kidney Wilms tumor
def: "Wilms tumor of the kidney characterized by the predominance of the blastema component." [NCIT:C9147]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "blastema predominant kidney adenosarcoma" EXACT [DOID:5182, NCIT:C9147]
synonym: "blastema predominant kidney Wilms tumor" EXACT [NCIT:C9147]
synonym: "blastema predominant kidney Wilms' tumor" RELATED [DOID:5182]
synonym: "blastema predominant kidney Wilms' tumour" RELATED OMO:0003005 []
synonym: "blastema predominant nephroblastoma" EXACT [NCIT:C9147]
synonym: "blastema predominant renal adenosarcoma" EXACT [NCIT:C9147]
synonym: "blastema predominant renal Wilm's tumor" EXACT [NCIT:C9147]
synonym: "blastema predominant renal Wilm's tumour" EXACT OMO:0003005 []
synonym: "blastema predominant renal Wilms tumor" EXACT [DOID:5182, NCIT:C9147]
synonym: "blastema predominant renal Wilms tumour" EXACT OMO:0003005 []
synonym: "blastema predominant renal Wilms' tumor" EXACT [NCIT:C9147]
synonym: "blastema predominant renal Wilms' tumour" EXACT OMO:0003005 []
synonym: "blastema predominant Wilms tumor" EXACT [NCIT:C9147]
synonym: "blastema predominant Wilms tumour" EXACT OMO:0003005 []
xref: DOID:5182 {source="MONDO:equivalentTo"}
xref: MEDGEN:83528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9147 {source="MONDO:equivalentTo", source="DOID:5182"}
xref: UMLS:C0279609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83528"}
is_a: MONDO:0019004 {source="DOID:5182", source="MONDO:Redundant", source="NCIT:C9147"} ! kidney Wilms tumor

[Term]
id: MONDO:0003321
name: hereditary Wilms tumor
def: "Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial Wilms tumor" EXACT [NCIT:C8496]
synonym: "familial Wilms tumour" EXACT OMO:0003005 []
synonym: "familial Wilms' tumor" EXACT [NCIT:C8496]
synonym: "familial Wilms' tumour" EXACT OMO:0003005 []
synonym: "hereditary kidney adenosarcoma" EXACT [NCIT:C8496]
synonym: "hereditary nephroblastoma" EXACT [NCIT:C8496]
synonym: "hereditary renal adenosarcoma" EXACT [NCIT:C8496]
synonym: "hereditary Wilms tumor" EXACT [DOID:5183, MONDO:patterns/hereditary, NCIT:C8496]
synonym: "hereditary Wilms' tumor" EXACT [DOID:5183, NCIT:C8496]
synonym: "hereditary Wilms' tumour" EXACT OMO:0003005 []
synonym: "WT1" NARROW ABBREVIATION [DOID:5183]
xref: DOID:5183 {source="MONDO:equivalentTo"}
xref: MEDGEN:146190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8496 {source="MONDO:equivalentTo", source="DOID:5183"}
xref: OMIMPS:194070 {source="MONDO:equivalentTo"}
xref: UMLS:C0677779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146190"}
is_a: MONDO:0019004 {source="DOID:5183", source="MONDO:Redundant", source="NCIT:C8496"} ! kidney Wilms tumor
intersection_of: MONDO:0006058 ! Wilms tumor
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:194070"} ! inherited

[Term]
id: MONDO:0003322
name: epithelial predominant Wilms' tumor
def: "Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epithelial predominant kidney adenosarcoma" EXACT [DOID:5189, NCIT:C9146]
synonym: "epithelial predominant kidney Wilms tumor" EXACT [NCIT:C9146]
synonym: "epithelial predominant kidney Wilms tumour" EXACT OMO:0003005 []
synonym: "epithelial predominant nephroblastoma" EXACT [NCIT:C9146]
synonym: "epithelial predominant renal adenosarcoma" EXACT [NCIT:C9146]
synonym: "epithelial predominant renal Wilm's tumor" EXACT [NCIT:C9146]
synonym: "epithelial predominant renal Wilm's tumour" EXACT OMO:0003005 []
synonym: "epithelial predominant renal Wilms tumor" EXACT [DOID:5189, NCIT:C9146]
synonym: "epithelial predominant renal Wilms tumour" EXACT OMO:0003005 []
synonym: "epithelial predominant renal Wilms' tumor" EXACT [NCIT:C9146]
synonym: "epithelial predominant renal Wilms' tumour" EXACT OMO:0003005 []
synonym: "epithelial predominant Wilms tumor" EXACT [NCIT:C9146]
synonym: "epithelial predominant Wilms tumour" EXACT OMO:0003005 []
xref: DOID:5189 {source="MONDO:equivalentTo"}
xref: MEDGEN:76000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9146 {source="DOID:5189", source="MONDO:equivalentTo"}
xref: UMLS:C0279608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76000"}
is_a: MONDO:0019004 {source="DOID:5189", source="MONDO:Redundant", source="NCIT:C9146"} ! kidney Wilms tumor

[Term]
id: MONDO:0003323
name: obsolete MONDO:0003323
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006144

[Term]
id: MONDO:0003324
name: obsolete stromal predominant kidney Wilms' tumor
is_obsolete: true
replaced_by: MONDO:0006432

[Term]
id: MONDO:0003325
name: nodular ganglioneuroblastoma
def: "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules." [NCIT:C42058]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ganglioneuroblastoma, nodular" EXACT [NCIT:C42058]
xref: DOID:5193 {source="MONDO:equivalentTo"}
xref: MEDGEN:309203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42058 {source="MONDO:equivalentTo", source="DOID:5193", source="MONDO:exact-label-match"}
xref: UMLS:C1517445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309203"}
is_a: MONDO:0005035 {source="DOID:5193", source="NCIT:C42058"} ! ganglioneuroblastoma

[Term]
id: MONDO:0003326
name: intermixed schwannian stroma-rich ganglioneuroblastoma
def: "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ganglioneuroblastoma, intermixed" EXACT [NCIT:C42057]
synonym: "ganglioneuroblastoma, intermixed (Schwannian Stroma-rich)" EXACT [NCIT:C42057]
xref: DOID:5194 {source="MONDO:equivalentTo"}
xref: MEDGEN:274565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42057 {source="MONDO:equivalentTo", source="DOID:5194"}
xref: UMLS:C1517444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274565"}
is_a: MONDO:0005035 {source="DOID:5194", source="NCIT:C42057"} ! ganglioneuroblastoma

[Term]
id: MONDO:0003327
name: peripheral ganglioneuroblastoma
def: "A ganglioneuroblastoma arising from the peripheral nervous system." [NCIT:P378]
comment: Editor note: logical definition removed as it leads to equivalency with parent
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ganglioneuroblastoma (disease) of peripheral nervous system" EXACT []
synonym: "peripheral ganglioneuroblastoma" EXACT [NCIT:C6594]
synonym: "peripheral nervous system ganglioneuroblastoma" EXACT [NCIT:C6594]
synonym: "peripheral nervous system ganglioneuroblastoma (disease)" EXACT [MONDO:patterns/location]
synonym: "PNS ganglioneuroblastoma" EXACT [DOID:5195, NCIT:C6594]
xref: DOID:5195 {source="MONDO:equivalentTo"}
xref: MEDGEN:233850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6594 {source="MONDO:equivalentTo", source="DOID:5195"}
xref: UMLS:C1335387 {source="MONDO:equivalentTo", source="MEDGEN:233850", source="MONDO:MEDGEN"}
is_a: MONDO:0005035 {source="DOID:5195", source="MONDO:Redundant", source="NCIT:C6594"} ! ganglioneuroblastoma
intersection_of: MONDO:0005035 ! ganglioneuroblastoma
intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system

[Term]
id: MONDO:0003328
name: fallopian tube adenomatoid tumor
def: "A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding." [NCIT:C40129]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube adenomatoid tumor" EXACT [MONDO:patterns/location, NCIT:C40129]
xref: DOID:5196 {source="MONDO:equivalentTo"}
xref: MEDGEN:273291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40129 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5196"}
xref: UMLS:C1517110 {source="MEDGEN:273291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000645 {source="DOID:5196", source="NCIT:C40129"} ! fallopian tube benign neoplasm
is_a: MONDO:0004230 {source="DOID:5196", source="MONDO:Redundant", source="NCIT:C40129"} ! adenomatoid tumor
intersection_of: MONDO:0004230 ! adenomatoid tumor
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003329
name: ureteral obstruction
def: "Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy." [MESH:D014517]
synonym: "ureteral obstruction" EXACT [MONDO:ambiguous]
synonym: "ureteral obstruction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:5199 {source="MONDO:equivalentTo"}
xref: HP:0006000 {source="MONDO:otherHierarchy"}
xref: ICD9:593.4 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:5199"}
xref: MEDGEN:12012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014517 {source="MONDO:equivalentTo"}
xref: SCTID:197807001 {source="DOID:5199"}
xref: SCTID:20018005 {source="MONDO:equivalentTo"}
xref: UMLS:C0041956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12012"}
is_a: MONDO:0001926 {source="DOID:5199", source="MESH:D014517"} ! ureteral disorder
is_a: MONDO:0003330 {source="DOID:5199"} ! urinary tract obstruction
property_value: IAO:0000589 "ureteral obstruction (disease)" xsd:string

[Term]
id: MONDO:0003330
name: urinary tract obstruction
def: "Blockage of the normal flow of contents of the urinary tract." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "obstructive uropathy" EXACT [DOID:5200, NCIT:C3675]
synonym: "urinary obstruction" EXACT [DOID:5200, ICD9CM:599.6]
xref: DOID:5200 {source="MONDO:equivalentTo"}
xref: EFO:0009571 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N13.9 {source="DOID:5200"}
xref: ICD9:599.6 {source="DOID:5200", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:599.60 {source="DOID:5200", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:64247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200178 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3675 {source="DOID:5200", source="MONDO:equivalentTo"}
xref: NCIT:C79805 {source="DOID:5200", source="MONDO:otherHierarchy"}
xref: SCTID:197936002 {source="DOID:5200"}
xref: SCTID:266567006 {source="DOID:5200"}
xref: SCTID:266636004 {source="DOID:5200"}
xref: SCTID:7163005 {source="DOID:5200", source="MONDO:equivalentTo"}
xref: UMLS:C0178879 {source="MEDGEN:64247", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="DOID:5200", source="NCIT:C3675"} ! urinary system disorder

[Term]
id: MONDO:0003331
name: ovarian monodermal teratoma
def: "A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer." [NCIT:C7286]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "monodermal teratoma" EXACT [NCIT:C7286]
synonym: "monodermal teratoma (morphologic abnormality)" EXACT [DOID:5207]
synonym: "ovarian monodermal teratoma" EXACT [DOID:5207, NCIT:C7286]
xref: DOID:5207 {source="MONDO:equivalentTo"}
xref: MEDGEN:266265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7286 {source="DOID:5207", source="MONDO:equivalentTo"}
xref: SCTID:399632009 {source="DOID:5207"}
xref: UMLS:C1302569 {source="MEDGEN:266265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005602 {source="DOID:5207", source="NCIT:C7286"} ! ovarian teratoma

[Term]
id: MONDO:0003332
name: malignant struma ovarii
def: "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion)." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "struma ovarii, malignant" EXACT [MONDO:patterns/malignant]
synonym: "struma ovarii, malignant (morphologic abnormality)" EXACT [DOID:5208]
xref: DOID:5208 {source="MONDO:equivalentTo"}
xref: ICDO:9090/3 {source="NCIT:C4291"}
xref: MEDGEN:137777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4291 {source="MONDO:equivalentTo", source="DOID:5208"}
xref: SCTID:18854008 {source="DOID:5208"}
xref: UMLS:C0334525 {source="MEDGEN:137777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006444 {source="NCIT:C4291"} ! teratoma with malignant transformation
is_a: MONDO:0006980 {source="DOID:5208", source="MONDO:Redundant", source="NCIT:C4291"} ! struma ovarii
is_a: MONDO:0018171 {source="DOID:5208/inferred", source="MONDO:Redundant", source="NCIT:C4291"} ! malignant germ cell tumor of ovary
intersection_of: MONDO:0006980 ! struma ovarii
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003333
name: benign struma ovarii
def: "A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues." [NCIT:C40012]
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "benign struma ovarii" EXACT [NCIT:C40012]
synonym: "struma ovarii, benign" EXACT [MONDO:patterns/benign]
xref: DOID:5209 {source="MONDO:equivalentTo"}
xref: NCIT:C40012 {source="MONDO:equivalentObsolete", source="DOID:5209"}
is_a: MONDO:0006980 {source="DOID:5209", source="MONDO:Redundant", source="NCIT:C40012"} ! struma ovarii
intersection_of: MONDO:0006980 ! struma ovarii
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0003334
name: demyelinating polyneuropathy
def: "Polyneuropathy that is characterized by demyelination of axons." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peripheral demyelinating neuropathy" EXACT [DOID:5214]
xref: DOID:5214 {source="MONDO:equivalentTo"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27062 {source="DOID:5214", source="MONDO:equivalentTo"}
xref: SCTID:23414001 {source="DOID:5214", source="MONDO:equivalentTo"}
xref: UMLS:C0270922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82859"}
is_a: MONDO:0001824 {source="DOID:5214", source="NCIT:C27062"} ! polyneuropathy
is_a: MONDO:0002562 {source="NCIT:C27062"} ! demyelinating disease

[Term]
id: MONDO:0003335
name: chronic polyneuropathy
def: "Polyneuropathy that is persistent or long-standing in nature." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polyneuropathy, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:5221 {source="MONDO:equivalentTo"}
xref: MEDGEN:223911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36071 {source="MONDO:equivalentTo", source="DOID:5221"}
xref: UMLS:C1167650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:223911"}
is_a: MONDO:0001824 {source="DOID:5221", source="MONDO:Redundant", source="NCIT:C36071"} ! polyneuropathy
intersection_of: MONDO:0001824 ! polyneuropathy
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0003336
name: acute necrotizing encephalitis
def: "A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)" [MESH:D004684]
subset: gard_rare {source="GARD:13233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acute necrotizing encephalitis" EXACT [GARD:0013233]
synonym: "acute necrotizing encephalopathy" RELATED [GARD:0013233]
synonym: "ANE" RELATED ABBREVIATION [GARD:0013233]
xref: DOID:5222 {source="MONDO:equivalentTo"}
xref: GARD:13233 {source="MONDO:GARD"}
xref: ICD9:049.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004684 {source="DOID:5222", source="MONDO:relatedTo"}
xref: NCIT:C35383 {source="DOID:5222", source="MONDO:equivalentTo"}
xref: SCTID:111897007 {source="GARD:0013233", source="DOID:5222", source="MONDO:equivalentTo"}
xref: UMLS:C0338418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83264"}
is_a: MONDO:0006009 {source="NCIT:C35383"} ! viral encephalitis
is_a: MONDO:0019956 {source="DOID:5222", source="MONDO:Redundant", source="NCIT:C35383/inferred"} ! encephalitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003337
name: acute hemorrhagic encephalitis
def: "Acute encephalitis that is characterized by bleeding." [NCIT:C35796]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acute hemorrhagic encephalitis" EXACT [NCIT:C35796]
xref: DOID:5224 {source="MONDO:equivalentTo"}
xref: MEDGEN:231027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35796 {source="DOID:5224", source="MONDO:equivalentTo"}
xref: UMLS:C1332149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231027"}
is_a: MONDO:0006009 {source="NCIT:C35796"} ! viral encephalitis
is_a: MONDO:0019956 {source="DOID:5224", source="MONDO:Redundant", source="NCIT:C35796/inferred"} ! encephalitis
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: disease_has_feature HP:0001892 ! Abnormal bleeding
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003338
name: obsolete von Economo disease
synonym: "obsolete von Economo's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0019384

[Term]
id: MONDO:0003339
name: obsolete hepatoerythropoietic porphyria
is_obsolete: true
replaced_by: MONDO:0019799

[Term]
id: MONDO:0003340
name: malignant glomus tumor
def: "A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course." [NCIT:C4221]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glomangiosarcoma" EXACT [NCIT:C4221]
synonym: "glomus tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant glomus neoplasm" EXACT [DOID:5233, NCIT:C4221]
synonym: "malignant glomus tumor" EXACT [NCIT:C4221]
xref: DOID:5233 {source="MONDO:equivalentTo"}
xref: ICDO:8710/3 {source="NCIT:C4221"}
xref: ICDO:8711/3 {source="NCIT:C4221"}
xref: MEDGEN:226840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4221 {source="DOID:5233", source="MONDO:equivalentTo"}
xref: ONCOTREE:MGST {source="MONDO:equivalentTo"}
xref: SCTID:128908003 {source="DOID:5233"}
xref: SCTID:13875003 {source="DOID:5233"}
xref: UMLS:C1266111 {source="MEDGEN:226840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018327 {source="DOID:5233", source="MONDO:Redundant", source="NCIT:C4221"} ! glomus tumor
intersection_of: MONDO:0018327 ! glomus tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003341
name: subungual glomus tumor
def: "A glomus tumor arising in the finger and usually associated with pain." [NCIT:C36079]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "subungual glomus tumor" EXACT [DOID:5236, NCIT:C36079]
xref: DOID:5236 {source="MONDO:equivalentTo"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36079 {source="DOID:5236", source="MONDO:equivalentTo"}
xref: SCTID:403973004 {source="DOID:5236", source="MONDO:equivalentTo"}
xref: UMLS:C1304510 {source="MEDGEN:266273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002295 {source="MONDO:Redundant", source="NCIT:C36079"} ! skin glomus tumor
is_a: MONDO:0018327 {source="DOID:5236", source="MONDO:Redundant", source="NCIT:C36079/inferred"} ! glomus tumor
intersection_of: MONDO:0018327 ! glomus tumor
intersection_of: disease_has_location UBERON:0004105 ! subungual region

[Term]
id: MONDO:0003342
name: benign perivascular tumor
def: "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." [NCIT:P378]
synonym: "benign Pericytic neoplasm" EXACT [NCIT:C6529]
synonym: "benign pericytic neoplasm" EXACT []
synonym: "benign Pericytic tumor" EXACT [NCIT:C6529]
synonym: "benign Pericytic tumour" EXACT OMO:0003005 []
synonym: "benign perivascular neoplasm" EXACT [NCIT:C6529]
synonym: "benign perivascular tumor" EXACT [NCIT:C6529]
synonym: "pericytic neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: DOID:5238 {source="MONDO:equivalentTo"}
xref: MEDGEN:231437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6529 {source="DOID:5238", source="MONDO:equivalentTo"}
xref: UMLS:C1332532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231437"}
is_a: MONDO:0002604 {source="MONDO:Redundant", source="NCIT:C6529"} ! pericytic neoplasm
intersection_of: MONDO:0002604 ! pericytic neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant
relationship: excluded_subClassOf MONDO:0000629 {source="DOID:5238", source="https://orcid.org/0000-0001-5208-3432"} ! cardiovascular organ benign neoplasm

[Term]
id: MONDO:0003343
name: retinal hemangioblastoma
def: "A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement." [NCIT:C39783]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hemangioblastoma of vasculature of retina" EXACT [MONDO:design_pattern]
synonym: "retinal capillary hemangioblastoma" EXACT [NCIT:C39783]
synonym: "retinal hemangioblastoma" EXACT [NCIT:C39783]
synonym: "vasculature of retina hemangioblastoma" EXACT [MONDO:patterns/location]
xref: DOID:5240 {source="MONDO:equivalentTo"}
xref: MEDGEN:152677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39783 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5240"}
xref: UMLS:C0730303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152677"}
is_a: MONDO:0002311 {source="DOID:5240"} ! retinal vascular disorder
is_a: MONDO:0016748 {source="DOID:5240", source="MONDO:Redundant", source="NCIT:C39783"} ! hemangioblastoma
intersection_of: MONDO:0016748 ! hemangioblastoma
intersection_of: disease_has_location UBERON:0004864 ! vasculature of retina

[Term]
id: MONDO:0003344
name: obsolete hemangioblastoma
is_obsolete: true
replaced_by: MONDO:0016748

[Term]
id: MONDO:0003345
name: hilar cholangiocarcinoma
def: "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." [NCIT:C36077]
subset: gard_rare {source="GARD:10175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99978"}
subset: orphanet_rare {source="Orphanet:99978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cholangiocarcinoma of hilar portion of hepatic duct" EXACT [MONDO:design_pattern]
synonym: "hilar CC" EXACT [NCIT:C36077]
synonym: "hilar CCA" EXACT [Orphanet:99978]
synonym: "hilar cholangiocarcinoma" EXACT [DOID:4927, NCIT:C36077, Orphanet:99978]
synonym: "hilar cholangiocellular carcinoma" RELATED [DOID:5246]
synonym: "hilar portion of hepatic duct cholangiocarcinoma" EXACT [MONDO:patterns/location]
synonym: "Klatskin tumor" EXACT [DOID:4927, MONDO:0020566, NCIT:C36077]
synonym: "Klatskin tumour" EXACT OMO:0003005 []
synonym: "Klatskin's tumor" EXACT [GARD:0010175, MONDO:0006822]
synonym: "Klatskin's tumour" EXACT OMO:0003005 []
synonym: "perihilar cholangiocarcinoma" RELATED [GARD:0010175]
synonym: "perihilar extrahepatic bile duct carcinoma" EXACT [DOID:4927, NCIT:C5859]
xref: DOID:4927 {source="MONDO:equivalentTo", source="EFO:1001005"}
xref: DOID:5246 {source="MONDO:equivalentObsolete"}
xref: EFO:1001959 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10175 {source="MONDO:GARD"}
xref: ICD10CM:C24.0 {source="Orphanet:99978", source="Orphanet:99978/ntbt"}
xref: icd11.foundation:1571104786 {source="MONDO:equivalentTo", source="Orphanet:99978"}
xref: MEDGEN:61664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018285 {source="MONDO:equivalentTo", source="Orphanet:99978", source="EFO:1001005", source="DOID:4927", source="Orphanet:99978/e"}
xref: NCIT:C36077 {source="DOID:5246", source="MONDO:equivalentTo", source="DOID:4927"}
xref: Orphanet:99978 {source="GARD:0010175", source="MONDO:equivalentTo"}
xref: SCTID:253017000 {source="MONDO:equivalentTo", source="DOID:4927"}
xref: SCTID:6492006 {source="DOID:4927"}
xref: UMLS:C0206702 {source="MEDGEN:61664", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003210 {source="DOID:4927"} ! intrahepatic cholangiocarcinoma
is_a: MONDO:0019087 {source="DOID:4927/inferred", source="DOID:5246", source="EFO:1001005", source="MESH:D018285", source="MONDO:Redundant", source="NCIT:C36077"} ! cholangiocarcinoma
intersection_of: MONDO:0019087 ! cholangiocarcinoma
intersection_of: disease_has_location UBERON:0015423 ! hilar portion of hepatic duct
relationship: disease_has_location UBERON:0015423 {source="NCIT:C36077"} ! hilar portion of hepatic duct
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor" xsd:anyURI {source="GARD:0010175"}

[Term]
id: MONDO:0003346
name: central nervous system vasculitis
def: "Vasculitis affecting the blood vessels of the brain and/or spinal cord." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system vasculitis" EXACT [MONDO:patterns/location]
synonym: "vasculitis of central nervous system" EXACT [MONDO:design_pattern]
xref: DOID:525 {source="MONDO:equivalentTo"}
xref: MEDGEN:148408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020293 {source="DOID:525", source="MONDO:equivalentTo"}
xref: NCIT:C84622 {source="DOID:525", source="MONDO:equivalentTo"}
xref: UMLS:C0751878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148408"}
is_a: MONDO:0002602 {source="DOID:525", source="MESH:D020293/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! central nervous system disorder
is_a: MONDO:0018882 {source="DOID:525", source="MESH:D020293", source="MONDO:Redundant", source="NCIT:C84622"} ! vasculitis
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003347
name: inflammatory leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells." [NCIT:C27495]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "inflammatory leiomyosarcoma" EXACT [NCIT:C27495]
xref: DOID:5251 {source="MONDO:equivalentTo"}
xref: MEDGEN:233554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27495 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5251"}
xref: UMLS:C1334179 {source="MEDGEN:233554", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005058 {source="DOID:5251", source="NCIT:C27495"} ! leiomyosarcoma

[Term]
id: MONDO:0003348
name: conventional leiomyosarcoma
def: "An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion." [NCIT:C9428]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "classic leiomyosarcoma" EXACT [NCIT:C9428]
synonym: "conventional leiomyosarcoma" EXACT [NCIT:C9428]
xref: DOID:5253 {source="MONDO:equivalentTo"}
xref: MEDGEN:232394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9428 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5253"}
xref: UMLS:C1333157 {source="MEDGEN:232394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005058 {source="DOID:5253", source="NCIT:C9428"} ! leiomyosarcoma

[Term]
id: MONDO:0003349
name: central nervous system leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6999]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6999]
synonym: "CNS leiomyosarcoma" EXACT [NCIT:C6999]
synonym: "leiomyosarcoma of central nervous system" EXACT [NCIT:C6999]
synonym: "leiomyosarcoma of CNS" EXACT [NCIT:C6999]
synonym: "leiomyosarcoma of the central nervous system" EXACT [NCIT:C6999]
synonym: "leiomyosarcoma of the CNS" EXACT [DOID:5254, NCIT:C6999]
xref: DOID:5254 {source="MONDO:equivalentTo"}
xref: MEDGEN:235254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6999 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5254"}
xref: UMLS:C1334385 {source="MEDGEN:235254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002217 {source="MONDO:Redundant", source="NCIT:C6999"} ! central nervous system sarcoma
is_a: MONDO:0003244 {source="DOID:5254", source="NCIT:C6999/inferred"} ! central nervous system mesenchymal non-meningothelial tumor
is_a: MONDO:0005058 {source="DOID:5254", source="MONDO:Redundant", source="NCIT:C6999/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003350
name: granular cell leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes." [NCIT:C27494]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "granular cell leiomyosarcoma" EXACT [NCIT:C27494]
xref: DOID:5258 {source="MONDO:equivalentTo"}
xref: MEDGEN:234321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27494 {source="NCIT:C27494", source="DOID:5258", source="MONDO:equivalentTo"}
xref: UMLS:C1333871 {source="MEDGEN:234321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005058 {source="DOID:5258", source="MONDO:Redundant", source="NCIT:C27494"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: MONDO:0006235 ! granular cell tumor
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0003351
name: colon leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5494]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "colon leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5494]
synonym: "colonic leiomyosarcoma" EXACT [DOID:5259, NCIT:C5494]
synonym: "leiomyosarcoma of colon" EXACT [NCIT:C5494]
synonym: "leiomyosarcoma of the colon" EXACT [NCIT:C5494]
xref: DOID:5259 {source="MONDO:equivalentTo"}
xref: MEDGEN:232380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5494 {source="DOID:5259", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232380"}
is_a: MONDO:0003352 {source="DOID:5259", source="MONDO:Redundant", source="NCIT:C5494"} ! colon sarcoma
is_a: MONDO:0005058 {source="DOID:5259", source="MONDO:Redundant", source="NCIT:C5494/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0003352
name: colon sarcoma
def: "A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." [NCIT:C5495]
synonym: "colon sarcoma" EXACT [MONDO:patterns/location, NCIT:C5495]
synonym: "colonic sarcoma" EXACT [DOID:5260, NCIT:C5495]
synonym: "sarcoma of colon" EXACT [MONDO:patterns/sarcoma, NCIT:C5495]
synonym: "sarcoma of the colon" EXACT [NCIT:C5495]
xref: DOID:5260 {source="MONDO:equivalentTo"}
xref: MEDGEN:272493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5495 {source="MONDO:equivalentTo", source="DOID:5260", source="MONDO:exact-label-match"}
xref: UMLS:C1333098 {source="MONDO:equivalentTo", source="MEDGEN:272493", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DOID:5260", source="MONDO:Redundant", source="NCIT:C5495/inferred"} ! sarcoma
is_a: MONDO:0021063 {source="DOID:5260", source="MONDO:Redundant", source="NCIT:C5495"} ! malignant colon neoplasm
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0003353
name: heart leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cardiac leiomyosarcoma" EXACT [NCIT:C5364]
synonym: "heart leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5364]
synonym: "leiomyosarcoma of heart" EXACT [DOID:5261, NCIT:C5364]
synonym: "leiomyosarcoma of the heart" EXACT [NCIT:C5364]
xref: DOID:5261 {source="MONDO:equivalentTo"}
xref: MEDGEN:234095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5364 {source="MONDO:equivalentTo", source="DOID:5261"}
xref: UMLS:C1332848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234095"}
is_a: MONDO:0003354 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364"} ! heart sarcoma
is_a: MONDO:0005058 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0003354
name: heart sarcoma
def: "A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cardiac sarcoma" EXACT [NCIT:C7723]
synonym: "cardiac sarcoma" EXACT [DOID:5262, NCIT:C7723]
synonym: "heart sarcoma" EXACT [MONDO:patterns/location, NCIT:C7723]
synonym: "sarcoma of heart" EXACT [DOID:5262, MONDO:patterns/sarcoma, NCIT:C7723]
synonym: "sarcoma of the heart" EXACT [NCIT:C7723]
xref: DOID:5262 {source="MONDO:equivalentTo"}
xref: MEDGEN:68657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7723 {source="MONDO:equivalentTo", source="DOID:5262"}
xref: UMLS:C0238152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68657"}
is_a: MONDO:0001340 {source="DOID:5262", source="MONDO:Redundant", source="NCIT:C7723"} ! heart cancer
is_a: MONDO:0005089 {source="DOID:5262", source="MONDO:Redundant", source="NCIT:C7723/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C7723"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0003355
name: ovary leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5234]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leiomyosarcoma of ovary" EXACT [DOID:5263, NCIT:C5234]
synonym: "leiomyosarcoma of the ovary" EXACT [NCIT:C5234]
synonym: "ovarian leiomyosarcoma" EXACT [MONDO:0005612, NCIT:C5234]
synonym: "ovary leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5263 {source="MONDO:equivalentTo"}
xref: EFO:0006718 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5234 {source="MONDO:equivalentTo", source="EFO:0006718", source="DOID:5263"}
xref: UMLS:C1335163 {source="MEDGEN:233275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002225 {source="DOID:5263", source="MONDO:Redundant", source="NCIT:C5234"} ! ovarian sarcoma
is_a: MONDO:0005058 {source="DOID:5263", source="EFO:0006718", source="MONDO:Redundant", source="NCIT:C5234/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003356
name: epithelioid leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." [NCIT:C3700]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epithelioid leiomyosarcoma" EXACT [NCIT:C3700]
xref: DOID:5264 {source="MONDO:equivalentTo"}
xref: ICDO:8891/3 {source="NCIT:C3700"}
xref: MEDGEN:61454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007890 {source="DOID:5264"}
xref: NCIT:C3700 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5264"}
xref: SCTID:42392001 {source="DOID:5264"}
xref: UMLS:C0205815 {source="MEDGEN:61454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005058 {source="DOID:5264", source="NCIT:C3700"} ! leiomyosarcoma

[Term]
id: MONDO:0003357
name: lung leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5667]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leiomyosarcoma of lung" EXACT [NCIT:C5667]
synonym: "leiomyosarcoma of the lung" EXACT [NCIT:C5667]
synonym: "lung leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5667]
synonym: "pulmonary leiomyosarcoma" EXACT [DOID:5265, NCIT:C5667]
xref: DOID:5265 {source="MONDO:equivalentTo"}
xref: MEDGEN:232711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5667 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5265"}
xref: UMLS:C1334448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232711"}
is_a: MONDO:0002426 {source="DOID:5265", source="MONDO:Redundant", source="NCIT:C5667"} ! lung sarcoma
is_a: MONDO:0005058 {source="DOID:5265", source="MONDO:Redundant", source="NCIT:C5667/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003358
name: anus leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal leiomyosarcoma" EXACT [NCIT:C5599]
synonym: "anus leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "leiomyosarcoma of anus" EXACT [DOID:5267, NCIT:C5599]
synonym: "leiomyosarcoma of the anus" EXACT [NCIT:C5599]
xref: DOID:5267 {source="MONDO:equivalentTo"}
xref: MEDGEN:231370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5599 {source="DOID:5267", source="MONDO:equivalentTo"}
xref: UMLS:C1332267 {source="MEDGEN:231370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002865 {source="DOID:5267", source="MONDO:Redundant", source="NCIT:C5599"} ! anus sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0003359
name: myxoid leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." [NCIT:C3701]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myxoid leiomyosarcoma" EXACT [DOID:5268, NCIT:C3701]
synonym: "myxoid leiomyosarcoma (morphologic abnormality)" EXACT [DOID:5268]
xref: DOID:5268 {source="MONDO:equivalentTo"}
xref: ICDO:8896/3 {source="NCIT:C3701"}
xref: MEDGEN:104725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007890 {source="DOID:5268"}
xref: NCIT:C3701 {source="DOID:5268", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:16090008 {source="DOID:5268"}
xref: SCTID:189792003 {source="DOID:5268"}
xref: UMLS:C0205816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104725"}
is_a: MONDO:0005058 {source="DOID:5268", source="NCIT:C3701"} ! leiomyosarcoma

[Term]
id: MONDO:0003360
name: small intestine leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C7085]
subset: gard_rare {source="GARD:19852", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:104076"}
subset: orphanet_rare {source="Orphanet:104076"}
subset: rare
synonym: "leiomyosarcoma of small bowel" EXACT [NCIT:C7085]
synonym: "leiomyosarcoma of small intestine" EXACT [MONDO:0015190, NCIT:C7085]
synonym: "leiomyosarcoma of the small bowel" EXACT [DOID:5271, NCIT:C7085]
synonym: "leiomyosarcoma of the small intestine" EXACT [NCIT:C7085]
synonym: "small bowel leiomyosarcoma" EXACT [NCIT:C7085]
synonym: "small intestinal leiomyosarcoma" EXACT [NCIT:C7085]
synonym: "small intestine leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C7085]
synonym: "smooth muscle connective tissue tumor" RELATED [DOID:5271]
synonym: "smooth muscle connective tissue tumour" RELATED OMO:0003005 []
xref: DOID:5271 {source="MONDO:equivalentTo"}
xref: GARD:19852 {source="MONDO:GARD"}
xref: ICD10CM:C17.0 {source="Orphanet:104076/btnt", source="Orphanet:104076"}
xref: ICD10CM:C17.1 {source="Orphanet:104076/btnt", source="Orphanet:104076"}
xref: ICD10CM:C17.2 {source="Orphanet:104076/btnt", source="Orphanet:104076"}
xref: ICD10CM:C17.3 {source="Orphanet:104076/btnt", source="Orphanet:104076"}
xref: ICD10CM:C17.8 {source="Orphanet:104076/btnt", source="Orphanet:104076"}
xref: MEDGEN:183086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7085 {source="MONDO:equivalentTo", source="DOID:5271"}
xref: Orphanet:104076 {source="MONDO:equivalentTo"}
xref: SCTID:716651004 {source="MONDO:equivalentTo"}
xref: UMLS:C0920305 {source="MEDGEN:183086", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003361 {source="DOID:5271", source="MONDO:Redundant", source="NCIT:C7085"} ! small intestinal sarcoma
is_a: MONDO:0005058 {source="DOID:5271", source="MONDO:Redundant", source="NCIT:C7085/inferred"} ! leiomyosarcoma
is_a: MONDO:0018506 {source="Orphanet:104076"} ! mesenchymal tumor of small intestine
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0003361
name: small intestinal sarcoma
def: "A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma." [NCIT:C5335]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sarcoma of small bowel" EXACT [NCIT:C5335]
synonym: "sarcoma of small intestine" EXACT [MONDO:patterns/sarcoma, NCIT:C5335]
synonym: "sarcoma of the small bowel" EXACT [NCIT:C5335]
synonym: "sarcoma of the small intestine" EXACT [DOID:5272, NCIT:C5335]
synonym: "sarcoma, small intestinal" EXACT [NCIT:C5335]
synonym: "small bowel sarcoma" EXACT [NCIT:C5335]
synonym: "small intestinal sarcoma" EXACT [NCIT:C5335]
synonym: "small intestine sarcoma" EXACT [MONDO:patterns/location, NCIT:C5335]
xref: DOID:5272 {source="MONDO:equivalentTo"}
xref: MEDGEN:233455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5335 {source="MONDO:equivalentTo", source="DOID:5272", source="MONDO:exact-label-match"}
xref: UMLS:C1336007 {source="MEDGEN:233455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000956 {source="DOID:5272", source="MONDO:Redundant", source="NCIT:C5335"} ! small intestine cancer
is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C5335/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C5335"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0003362
name: cutaneous leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous leiomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C4484]
synonym: "cutaneous leiomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "leiomyosarcoma of skin" EXACT [NCIT:C4484]
synonym: "leiomyosarcoma of the skin" EXACT [DOID:5273, NCIT:C4484]
synonym: "leiomyosarcoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin leiomyosarcoma" EXACT [NCIT:C4484]
synonym: "zone of skin leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5273 {source="MONDO:equivalentTo"}
xref: HP:0006755 {source="MONDO:otherHierarchy"}
xref: MEDGEN:87534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4484 {source="MONDO:equivalentTo", source="DOID:5273"}
xref: SCTID:254771006 {source="MONDO:equivalentTo", source="DOID:5273"}
xref: UMLS:C0346067 {source="MEDGEN:87534", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C4484"} ! leiomyosarcoma
is_a: MONDO:0006414 {source="DOID:5273", source="MONDO:Redundant", source="NCIT:C4484"} ! skin sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
property_value: IAO:0000589 "cutaneous leiomyosarcoma (disease)" xsd:string

[Term]
id: MONDO:0003363
name: malignant dermis tumor
def: "A malignant neoplasm involving the dermis." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of dermis" EXACT [MONDO:patterns/cancer]
synonym: "dermis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant dermal neoplasm" EXACT [NCIT:C4574]
synonym: "malignant dermis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4574]
synonym: "malignant dermis tumor" EXACT [NCIT:C4574]
synonym: "malignant neoplasm of dermis" EXACT [DOID:5274, MONDO:patterns/cancer, NCIT:C4574]
synonym: "malignant neoplasm of the dermis" EXACT [NCIT:C4574]
synonym: "malignant tumor of dermis" EXACT [NCIT:C4574]
synonym: "malignant tumor of the dermis" EXACT [NCIT:C4574]
synonym: "malignant tumour of dermis" EXACT OMO:0003005 []
synonym: "malignant tumour of the dermis" EXACT OMO:0003005 []
xref: DOID:5274 {source="MONDO:equivalentTo"}
xref: MEDGEN:87564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4574 {source="MONDO:equivalentTo", source="DOID:5274"}
xref: SCTID:255096006 {source="MONDO:equivalentTo", source="DOID:5274"}
xref: UMLS:C0346811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87564"}
is_a: MONDO:0002300 {source="MONDO:Redundant", source="NCIT:C4574"} ! dermis tumor
is_a: MONDO:0002898 {source="DOID:5274", source="MONDO:Redundant", source="NCIT:C4574"} ! skin cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002067 ! dermis

[Term]
id: MONDO:0003364
name: gallbladder leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5841]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gall bladder leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder leiomyosarcoma" EXACT [NCIT:C5841]
synonym: "leiomyosarcoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "leiomyosarcoma of gallbladder" EXACT [NCIT:C5841]
synonym: "leiomyosarcoma of the gallbladder" EXACT [DOID:5275, NCIT:C5841]
xref: DOID:5275 {source="MONDO:equivalentTo"}
xref: MEDGEN:234291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5841 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5275"}
xref: UMLS:C1333746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234291"}
is_a: MONDO:0002857 {source="DOID:5275", source="MONDO:Redundant", source="NCIT:C5841"} ! gallbladder sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0003365
name: esophagus leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophageal leiomyosarcoma" EXACT [NCIT:C5334]
synonym: "esophagus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5334]
synonym: "leiomyosarcoma of esophagus" EXACT [DOID:5276, NCIT:C5334]
synonym: "leiomyosarcoma of oesophagus" EXACT OMO:0003005 []
synonym: "leiomyosarcoma of the esophagus" EXACT [NCIT:C5334]
synonym: "leiomyosarcoma of the oesophagus" EXACT OMO:0003005 []
xref: DOID:5276 {source="MONDO:equivalentTo"}
xref: MEDGEN:272589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5334 {source="MONDO:equivalentTo", source="DOID:5276"}
xref: UMLS:C1333454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272589"}
is_a: MONDO:0001204 {source="DOID:5276", source="MONDO:Redundant", source="NCIT:C5334"} ! esophagus sarcoma
is_a: MONDO:0005058 {source="DOID:5276", source="MONDO:Redundant", source="NCIT:C5334/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0003366
name: hydrarthrosis
def: "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)" [MESH:D006833]
subset: otar {source="MONDO:OTAR"}
xref: DOID:528 {source="MONDO:equivalentTo"}
xref: ICD9:719.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:719.08 {source="MONDO:relatedTo", source="DOID:528", source="MONDO:i2s"}
xref: MEDGEN:222181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006833 {source="MONDO:equivalentTo"}
xref: SCTID:156579009 {source="DOID:528"}
xref: SCTID:202370001 {source="DOID:528"}
xref: SCTID:387637008 {source="MONDO:equivalentTo"}
xref: UMLS:C1253936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:222181"}
is_a: MONDO:0006816 {source="DOID:528", source="MESH:D006833"} ! arthropathy

[Term]
id: MONDO:0003367
name: gastric leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C27200]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gastric leiomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C27200]
synonym: "gastric leiomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "leiomyosarcoma of stomach" EXACT [MONDO:design_pattern]
synonym: "stomach leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5280 {source="MONDO:equivalentTo"}
xref: HP:0031025 {source="MONDO:otherHierarchy"}
xref: MEDGEN:196652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27200 {source="MONDO:equivalentTo", source="DOID:5280"}
xref: SCTID:447785000 {source="MONDO:equivalentTo", source="DOID:5280"}
xref: UMLS:C0744295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196652"}
is_a: MONDO:0001056 {source="DOID:5280", source="MONDO:Redundant", source="NCIT:C27200/inferred"} ! gastric cancer
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C27200/inferred"} ! leiomyosarcoma
is_a: MONDO:0018078 {source="MONDO:Redundant", source="NCIT:C27200"} ! soft tissue sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
property_value: IAO:0000589 "gastric leiomyosarcoma (disease)" xsd:string

[Term]
id: MONDO:0003368
name: prostate leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5526]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leiomyosarcoma of prostate" EXACT [NCIT:C5526]
synonym: "leiomyosarcoma of prostate gland" EXACT [MONDO:design_pattern]
synonym: "leiomyosarcoma of the prostate" EXACT [DOID:5282, NCIT:C5526]
synonym: "prostate gland leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "prostate leiomyosarcoma" EXACT [NCIT:C5526]
xref: DOID:5282 {source="MONDO:equivalentTo"}
xref: MEDGEN:233876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5526 {source="MONDO:equivalentTo", source="DOID:5282", source="MONDO:exact-label-match"}
xref: UMLS:C1335511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233876"}
is_a: MONDO:0002854 {source="DOID:5282", source="MONDO:Redundant", source="NCIT:C5526"} ! prostate sarcoma
is_a: MONDO:0005058 {source="DOID:5282", source="MONDO:Redundant", source="NCIT:C5526/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0003369
name: vagina leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6326]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leiomyosarcoma of the vagina" EXACT [DOID:5283, NCIT:C6326]
synonym: "leiomyosarcoma of vagina" EXACT [NCIT:C6326]
synonym: "vagina leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6326]
synonym: "vaginal leiomyosarcoma" EXACT [NCIT:C6326]
xref: DOID:5283 {source="MONDO:equivalentTo"}
xref: MEDGEN:277860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6326 {source="MONDO:equivalentTo", source="DOID:5283"}
xref: UMLS:C1336940 {source="MEDGEN:277860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002140 {source="DOID:5283", source="MONDO:Redundant", source="NCIT:C6326"} ! vagina sarcoma
is_a: MONDO:0005058 {source="DOID:5283", source="MONDO:Redundant", source="NCIT:C6326/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0003370
name: retroperitoneal leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C27904]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leiomyosarcoma of retroperitoneal space" EXACT [MONDO:design_pattern]
synonym: "retroperitoneal leiomyosarcoma" EXACT [NCIT:C27904]
synonym: "retroperitoneal space leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5284 {source="MONDO:equivalentTo"}
xref: MEDGEN:412162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27904 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5284"}
xref: UMLS:C2187547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412162"}
is_a: MONDO:0001501 {source="DOID:5284", source="MONDO:Redundant", source="NCIT:C27904"} ! retroperitoneal sarcoma
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C27904/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space

[Term]
id: MONDO:0003371
name: breast leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5186]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5186]
synonym: "leiomyosarcoma of breast" EXACT [NCIT:C5186]
synonym: "leiomyosarcoma of the breast" EXACT [DOID:5285, NCIT:C5186]
xref: DOID:5285 {source="MONDO:equivalentTo"}
xref: MEDGEN:234050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5186 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5285"}
xref: UMLS:C1332631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234050"}
is_a: MONDO:0002490 {source="DOID:5285", source="MONDO:Redundant", source="NCIT:C5186"} ! breast sarcoma
is_a: MONDO:0005058 {source="DOID:5285", source="MONDO:Redundant", source="NCIT:C5186/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003372
name: vulvar leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C40318]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leiomyosarcoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5286 {source="MONDO:equivalentTo"}
xref: EFO:1001975 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:378348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40318 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5286"}
xref: UMLS:C2168304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:378348"}
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C40318/inferred"} ! leiomyosarcoma
is_a: MONDO:0005214 {source="DOID:5286", source="EFO:1001975", source="MONDO:Redundant", source="NCIT:C40318"} ! vulva sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0003373
name: kidney leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6183]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "kidney leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6183]
synonym: "leiomyosarcoma of kidney" EXACT [DOID:5287, NCIT:C6183]
synonym: "leiomyosarcoma of the kidney" EXACT [NCIT:C6183]
synonym: "renal leiomyosarcoma" EXACT [NCIT:C6183]
xref: DOID:5287 {source="MONDO:equivalentTo"}
xref: MEDGEN:235545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6183 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5287"}
xref: UMLS:C1335743 {source="MEDGEN:235545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002930 {source="DOID:5287", source="MONDO:Redundant", source="NCIT:C6183"} ! kidney sarcoma
is_a: MONDO:0005058 {source="DOID:5287", source="MONDO:Redundant", source="NCIT:C6183/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0003374
name: laryngeal leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6022]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "laryngeal leiomyosarcoma" EXACT [NCIT:C6022]
synonym: "larynx leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6022]
synonym: "leiomyosarcoma of larynx" EXACT [DOID:5288, NCIT:C6022]
synonym: "leiomyosarcoma of the larynx" EXACT [NCIT:C6022]
xref: DOID:5288 {source="MONDO:equivalentTo"}
xref: MEDGEN:272791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6022 {source="DOID:5288", source="MONDO:equivalentTo"}
xref: UMLS:C1334371 {source="MEDGEN:272791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002448 {source="DOID:5288", source="MONDO:Redundant", source="NCIT:C6022"} ! laryngeal sarcoma
is_a: MONDO:0005058 {source="DOID:5288", source="MONDO:Redundant", source="NCIT:C6022/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0003375
name: obsolete uterus leiomyosarcoma
is_obsolete: true
replaced_by: MONDO:0016262

[Term]
id: MONDO:0003376
name: mediastinum leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leiomyosarcoma of mediastinum" EXACT [DOID:5292, NCIT:C6619]
synonym: "leiomyosarcoma of the mediastinum" EXACT [NCIT:C6619]
synonym: "mediastinal leiomyosarcoma" EXACT [NCIT:C6619]
synonym: "mediastinum leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5292 {source="MONDO:equivalentTo"}
xref: MEDGEN:235310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6619 {source="MONDO:equivalentTo", source="DOID:5292"}
xref: UMLS:C1334660 {source="MEDGEN:235310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002852 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619"} ! mediastinum sarcoma
is_a: MONDO:0005058 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0003377
name: extrahepatic bile duct leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5848]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct leiomyosarcoma" EXACT [NCIT:C5848]
synonym: "extrahepatic bile duct leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "leiomyosarcoma of bile duct" EXACT [NCIT:C5848]
synonym: "leiomyosarcoma of extrahepatic bile duct" EXACT [NCIT:C5848]
synonym: "leiomyosarcoma of the bile duct" EXACT [DOID:5293, NCIT:C5848]
synonym: "leiomyosarcoma of the extrahepatic bile duct" EXACT [NCIT:C5848]
xref: DOID:5293 {source="MONDO:equivalentTo"}
xref: MEDGEN:232481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5848 {source="MONDO:equivalentTo", source="DOID:5293", source="MONDO:exact-label-match"}
xref: UMLS:C1333508 {source="MEDGEN:232481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002862 {source="DOID:5293", source="MONDO:Entailed", source="MONDO:indirect"} ! bile duct sarcoma
is_a: MONDO:0003090 {source="DOID:5293", source="MONDO:Redundant"} ! extrahepatic bile duct carcinoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0003378
name: liver leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5756]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hepatic leiomyosarcoma" EXACT [NCIT:C5756]
synonym: "leiomyosarcoma of liver" EXACT [NCIT:C5756]
synonym: "leiomyosarcoma of the liver" EXACT [DOID:5296, NCIT:C5756]
synonym: "liver leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5756]
xref: DOID:5296 {source="MONDO:equivalentTo"}
xref: MEDGEN:272707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5756 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5296"}
xref: UMLS:C1333969 {source="MONDO:equivalentTo", source="MEDGEN:272707", source="MONDO:MEDGEN"}
is_a: MONDO:0002397 {source="DOID:5296", source="MONDO:Redundant", source="NCIT:C5756"} ! liver sarcoma
is_a: MONDO:0005058 {source="DOID:5296", source="MONDO:Redundant", source="NCIT:C5756/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0003379
name: rectum leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5549]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leiomyosarcoma of rectum" EXACT [DOID:5297, NCIT:C5549]
synonym: "leiomyosarcoma of the rectum" EXACT [NCIT:C5549]
synonym: "rectal leiomyosarcoma" EXACT [NCIT:C5549]
synonym: "rectum leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5297 {source="MONDO:equivalentTo"}
xref: MEDGEN:233391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5549 {source="MONDO:equivalentTo", source="DOID:5297"}
xref: UMLS:C1335683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233391"}
is_a: MONDO:0002168 {source="DOID:5297", source="MONDO:Redundant", source="NCIT:C5549"} ! rectum sarcoma
is_a: MONDO:0005058 {source="DOID:5297", source="MONDO:Redundant", source="NCIT:C5549/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0003380
name: obsolete endometrial clear cell adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006191

[Term]
id: MONDO:0003381
name: pituitary gland disorder
def: "A disease involving the pituitary gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of pituitary gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pituitary gland" EXACT []
synonym: "disorder of pituitary gland" EXACT [MONDO:patterns/location_top]
synonym: "pituitary disease" EXACT [DOID:53]
synonym: "pituitary gland disease" EXACT [MONDO:patterns/location, NCIT:C26854]
synonym: "pituitary gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pituitary gland disorder" EXACT [NCIT:C26854]
xref: DOID:53 {source="MONDO:equivalentTo"}
xref: EFO:0009607 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:253.1 {source="DOID:53"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:253.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010900 {source="MONDO:equivalentTo"}
xref: NCIT:C26854 {source="MONDO:equivalentTo"}
xref: SCTID:399244003 {source="MONDO:equivalentTo"}
xref: UMLS:C0032002 {source="MEDGEN:45934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="DOID:53", source="MESH:D010900", source="MONDO:Redundant"} ! endocrine system disorder
is_a: MONDO:0005560 {source="MESH:D010900/inferred", source="MONDO:Redundant"} ! brain disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland

[Term]
id: MONDO:0003382
name: eyelid disorder
def: "A disease involving the eyelid." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of eyelid" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of eyelid" EXACT []
synonym: "disorder of eyelid" EXACT [MONDO:patterns/location_top]
synonym: "eyelid disease" EXACT [MONDO:patterns/location]
synonym: "eyelid disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "eyelid disorder" EXACT [NCIT:C26768]
xref: DOID:530 {source="MONDO:equivalentTo"}
xref: EFO:0009547 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H00 {source="MONDO:equivalentTo"}
xref: ICD10CM:H00-H05 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H02.9 {source="DOID:530"}
xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:374.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:530"}
xref: MEDGEN:41938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005141 {source="MONDO:equivalentTo", source="DOID:530"}
xref: NCIT:C26768 {source="MONDO:equivalentTo", source="DOID:530"}
xref: SCTID:155180006 {source="DOID:530"}
xref: SCTID:193970000 {source="DOID:530"}
xref: SCTID:267737009 {source="DOID:530"}
xref: SCTID:60113004 {source="MONDO:equivalentTo", source="DOID:530"}
xref: UMLS:C0015423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41938"}
is_a: MONDO:0000462 {source="DOID:530", source="ICD10CM:H00"} ! eye adnexa disorder
is_a: MONDO:0005328 {source="MESH:D005141", source="MONDO:Entailed", source="NCIT:C26768"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0003383
name: fallopian tube clear cell adenocarcinoma
def: "A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells." [NCIT:C6280]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "clear cell adenocarcinoma of fallopian tube" EXACT [NCIT:C6280]
synonym: "clear cell adenocarcinoma of the fallopian tube" EXACT [NCIT:C6280]
synonym: "clear cell carcinoma of fallopian tube" EXACT [NCIT:C6280]
synonym: "clear cell carcinoma of the fallopian tube" EXACT [DOID:5301, NCIT:C6280]
synonym: "fallopian tube clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6280]
synonym: "fallopian tube clear cell carcinoma" EXACT [NCIT:C6280]
xref: DOID:5301 {source="MONDO:equivalentTo"}
xref: MEDGEN:232184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6280 {source="DOID:5301", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333591 {source="MEDGEN:232184", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002746 {source="DOID:5301", source="MONDO:Redundant", source="NCIT:C6280"} ! fallopian tube adenocarcinoma
is_a: MONDO:0005004 {source="DOID:5301", source="MONDO:Redundant", source="NCIT:C6280"} ! clear cell adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003384
name: uterine ligament clear cell adenocarcinoma
def: "A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated." [NCIT:C40139]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "uterine ligament clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40139]
xref: DOID:5302 {source="MONDO:equivalentTo"}
xref: NCIT:C40139 {source="DOID:5302", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
is_a: MONDO:0002741 {source="DOID:5302", source="MONDO:Redundant", source="NCIT:C40139"} ! uterine ligament adenocarcinoma
is_a: MONDO:0005004 {source="MONDO:Redundant", source="NCIT:C40139"} ! clear cell adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0003385
name: obsolete cervical clear cell adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006135

[Term]
id: MONDO:0003386
name: bladder clear cell adenocarcinoma
def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria." [NCIT:C6179]
synonym: "bladder clear cell adenocarcinoma" EXACT [NCIT:C6179]
synonym: "bladder mesonephric adenocarcinoma" EXACT [DOID:5306, NCIT:C6179]
synonym: "clear cell adenocarcinoma of bladder" RELATED [DOID:5306, NCIT:C6179]
synonym: "clear cell adenocarcinoma of the bladder" RELATED [NCIT:C6179]
synonym: "clear cell adenocarcinoma of the urinary bladder" RELATED [NCIT:C6179]
synonym: "clear cell adenocarcinoma of urinary bladder" RELATED [NCIT:C6179]
synonym: "urinary bladder clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6179]
xref: DOID:5306 {source="MONDO:equivalentTo"}
xref: MEDGEN:272370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6179 {source="NCIT:C6179", source="DOID:5306", source="MONDO:equivalentTo"}
xref: UMLS:C1332557 {source="MEDGEN:272370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002751 {source="DOID:5306", source="MONDO:Redundant", source="NCIT:C6179"} ! bladder adenocarcinoma
is_a: MONDO:0005004 {source="DOID:5306", source="MONDO:Redundant", source="NCIT:C6179"} ! clear cell adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0003387
name: urethra clear cell adenocarcinoma
def: "A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells." [NCIT:P378]
synonym: "clear cell adenocarcinoma of the urethra" EXACT [DOID:5307, NCIT:C6172]
synonym: "clear cell adenocarcinoma of urethra" EXACT [NCIT:C6172]
synonym: "urethra clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6172]
synonym: "urethral clear cell adenocarcinoma" EXACT [NCIT:C6172]
xref: DOID:5307 {source="MONDO:equivalentTo"}
xref: MEDGEN:277846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6172 {source="MONDO:equivalentTo", source="DOID:5307"}
xref: UMLS:C1336886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277846"}
is_a: MONDO:0003200 {source="DOID:5307", source="MONDO:Redundant", source="NCIT:C6172"} ! urethra adenocarcinoma
is_a: MONDO:0005004 {source="DOID:5307", source="MONDO:Redundant", source="NCIT:C6172"} ! clear cell adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0003388
name: ampulla of vater clear cell adenocarcinoma
def: "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei." [NCIT:C27414]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ampulla of Vater clear cell adenocarcinoma" EXACT [NCIT:C27414]
synonym: "hepatopancreatic ampulla clear cell adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5308 {source="MONDO:equivalentTo"}
xref: MEDGEN:233972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27414 {source="MONDO:equivalentTo", source="DOID:5308", source="MONDO:exact-label-match"}
xref: UMLS:C1332246 {source="MEDGEN:233972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002670 {source="DOID:5308", source="MONDO:Redundant", source="NCIT:C27414"} ! ampulla of vater adenocarcinoma
is_a: MONDO:0004081 {source="DOID:5308", source="MONDO:Entailed", source="MONDO:Redundant"} ! extrahepatic bile duct clear cell adenocarcinoma
is_a: MONDO:0005004 {source="DOID:5308/inferred", source="MONDO:Redundant", source="NCIT:C27414"} ! clear cell adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla

[Term]
id: MONDO:0003389
name: epithelial-myoepithelial carcinoma
def: "A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm." [NCIT:C4199]
synonym: "EMYOCA" RELATED ABBREVIATION [ONCOTREE:EMYOCA]
synonym: "epithelial-myoepithelial carcinoma" EXACT [NCIT:C4199]
xref: DOID:5309 {source="MONDO:equivalentTo"}
xref: ICDO:8562/3 {source="NCIT:C4199"}
xref: MEDGEN:90776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4199 {source="MONDO:equivalentTo", source="DOID:5309", source="MONDO:exact-label-match"}
xref: ONCOTREE:EMYOCA {source="MONDO:equivalentTo"}
xref: SCTID:189722008 {source="DOID:5309"}
xref: SCTID:9618003 {source="DOID:5309"}
xref: UMLS:C0334392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90776"}
is_a: MONDO:0004993 {source="NCIT:C4199"} ! carcinoma
relationship: excluded_subClassOf MONDO:0004669 {source="DOID:5309", source="https://orcid.org/0000-0001-5208-3432"} ! salivary gland cancer

[Term]
id: MONDO:0003390
name: glycogen-rich clear cell breast carcinoma
def: "An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen." [NCIT:C40368]
synonym: "glycogen-rich carcinoma" BROAD [DOID:5310, NCIT:C4153]
synonym: "glycogen-rich carcinoma (morphologic abnormality)" BROAD [DOID:5310]
synonym: "glycogen-rich, clear cell breast carcinoma" EXACT [NCIT:C40368]
xref: DOID:5310 {source="MONDO:equivalentTo"}
xref: ICDO:8315/3 {source="NCIT:C4153"}
xref: MEDGEN:1785052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40368 {source="DOID:5310", source="MONDO:equivalentTo"}
xref: NCIT:C4153 {source="DOID:5310"}
xref: SCTID:189656007 {source="DOID:5310"}
xref: SCTID:74280008 {source="DOID:5310"}
xref: UMLS:C2012261 {source="MEDGEN:1785052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005004 {source="NCIT:C40368"} ! clear cell adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C40368"} ! breast ductal adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C40368"} ! invasive breast carcinoma
is_a: MONDO:0045055 {source="MONDO:Redundant", source="NCIT:C40368"} ! glycogen-rich carcinoma
intersection_of: MONDO:0045055 ! glycogen-rich carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3710" xsd:anyURI

[Term]
id: MONDO:0003391
name: vulvar alveolar soft part sarcoma
def: "An alveolar soft part sarcoma arising from the vulva." [NCIT:C40320]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:5313 {source="MONDO:equivalentTo"}
xref: MEDGEN:276988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40320 {source="DOID:5313", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1520069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276988"}
is_a: MONDO:0005214 {source="DOID:5313", source="NCIT:C40320"} ! vulva sarcoma
is_a: MONDO:0011655 {source="NCIT:C40320"} ! alveolar soft part sarcoma
intersection_of: MONDO:0011655 ! alveolar soft part sarcoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0003392
name: fallopian tube germ cell tumor
def: "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." [NCIT:C40130]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube germ cell cancer" RELATED [DOID:5324]
synonym: "fallopian tube germ cell neoplasm" EXACT [DOID:5324, NCIT:C40130]
synonym: "fallopian tube germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C40130]
xref: DOID:5324 {source="MONDO:equivalentTo"}
xref: MEDGEN:274487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40130 {source="DOID:5324", source="MONDO:equivalentTo"}
xref: UMLS:C1517114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274487"}
is_a: MONDO:0005040 {source="DOID:5324", source="MONDO:Redundant", source="NCIT:C40130"} ! germ cell tumor
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C40130"} ! fallopian tube neoplasm
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube
relationship: excluded_subClassOf MONDO:0002158 {source="DOID:5324", source="https://orcid.org/0000-0001-5208-3432"} ! fallopian tube cancer

[Term]
id: MONDO:0003393
name: thymus gland disorder
def: "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." [NCIT:C26962]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease of thymus" EXACT [MONDO:patterns/location_top]
synonym: "disease of thymus gland" EXACT [DOID:533]
synonym: "disease or disorder of thymus" EXACT []
synonym: "disorder of thymus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of thymus gland" EXACT []
synonym: "thymus disease" EXACT [MONDO:patterns/location]
synonym: "thymus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Thymus disorder" EXACT [NCIT:C26962]
synonym: "thymus disorder" RELATED []
xref: DOID:533 {source="MONDO:equivalentTo"}
xref: ICD10CM:E32 {source="DOID:533"}
xref: ICD10CM:E32.9 {source="DOID:533"}
xref: ICD9:254 {source="DOID:533"}
xref: ICD9:254.9 {source="DOID:533"}
xref: MEDGEN:57585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26962 {source="DOID:533", source="MONDO:equivalentTo"}
xref: SCTID:154703006 {source="DOID:533"}
xref: SCTID:190500009 {source="DOID:533"}
xref: SCTID:20673009 {source="DOID:533", source="MONDO:equivalentTo"}
xref: SCTID:267482009 {source="DOID:533"}
xref: UMLS:C0154199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57585"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0002370 ! thymus
relationship: excluded_subClassOf MONDO:0005833 {source="DOID:533", source="https://orcid.org/0000-0001-5208-3432"} ! lymphatic system disorder

[Term]
id: MONDO:0003394
name: dental pulp disorder
def: "A disease involving the dental pulp." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "dental pulp disease" EXACT [MONDO:patterns/location]
synonym: "dental pulp disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "dental pulp disorder" EXACT [DOID:5330, NCIT:C34530]
synonym: "disease of dental pulp" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of dental pulp" EXACT []
synonym: "disorder of dental pulp" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pulp of tooth" EXACT [DOID:5330]
synonym: "pulp disorder" EXACT [DOID:5330]
xref: DOID:5330 {source="MONDO:equivalentTo"}
xref: EFO:0009540 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:522.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003788 {source="MONDO:equivalentTo", source="DOID:5330"}
xref: NCIT:C34530 {source="MONDO:equivalentTo", source="DOID:5330"}
xref: SCTID:57203004 {source="MONDO:equivalentTo", source="DOID:5330"}
xref: UMLS:C0011405 {source="MEDGEN:8305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006999 {source="DOID:5330", source="MESH:D003788", source="MONDO:Redundant", source="NCIT:C34530"} ! tooth disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001754 ! dental pulp
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:5330", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder

[Term]
id: MONDO:0003395
name: testicular granulosa cell tumor
def: "A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." [NCIT:C6357]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "granulosa cell neoplasm of testis" RELATED [NCIT:C6357]
synonym: "granulosa cell neoplasm of the testis" RELATED [NCIT:C6357]
synonym: "granulosa cell tumor of testis" EXACT [DOID:5331, NCIT:C6357]
synonym: "granulosa cell tumor of the testis" RELATED [NCIT:C6357]
synonym: "granulosa cell tumour of testis" EXACT OMO:0003005 []
synonym: "granulosa cell tumour of the testis" RELATED OMO:0003005 []
synonym: "testicular granulosa cell neoplasm" RELATED [NCIT:C6357]
synonym: "testicular granulosa cell tumor" EXACT [NCIT:C6357]
synonym: "testis granulosa cell tumor" EXACT [MONDO:patterns/location]
synonym: "testis granulosa cell tumour" EXACT OMO:0003005 []
xref: DOID:5331 {source="MONDO:equivalentTo"}
xref: MEDGEN:237001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6357 {source="MONDO:equivalentTo", source="NCIT:C6357", source="DOID:5331"}
xref: UMLS:C1336709 {source="MEDGEN:237001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003125 {source="DOID:5331", source="MONDO:Redundant", source="NCIT:C6357"} ! testicular sex cord-stromal neoplasm
is_a: MONDO:0006036 {source="DOID:5331", source="MONDO:Redundant", source="NCIT:C6357"} ! granulosa cell tumor
intersection_of: MONDO:0006036 ! granulosa cell tumor
intersection_of: disease_has_location UBERON:0000473 ! testis
relationship: excluded_subClassOf MONDO:0000624 {source="DOID:5331", source="https://orcid.org/0000-0001-5208-3432"} ! benign female reproductive system neoplasm

[Term]
id: MONDO:0003396
name: epulis
def: "A non-neoplastic nodular lesion that arises from the gingiva." [NCIT:P378]
synonym: "epulides" EXACT [DOID:5337]
synonym: "gingiva polyp" EXACT [MONDO:patterns/location]
synonym: "gingival polyp" EXACT [DOID:5337]
synonym: "gum polyp" EXACT [NCIT:C3948]
synonym: "polyp of gingiva" EXACT [NCIT:C3948]
synonym: "polyp of gum" EXACT [DOID:5337, NCIT:C3948]
synonym: "polyp of the gingiva" EXACT [NCIT:C3948]
synonym: "polyp of the gum" EXACT [NCIT:C3948]
xref: DOID:5337 {source="MONDO:equivalentTo"}
xref: ICD9:523.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005882 {source="DOID:5337"}
xref: NCIT:C3948 {source="DOID:5337", source="MONDO:equivalentTo"}
xref: SCTID:45676007 {source="DOID:5337", source="MONDO:equivalentTo"}
xref: SCTID:71708001 {source="DOID:5337"}
xref: UMLS:C0266919 {source="MEDGEN:82751", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002507 {source="DOID:5337"} ! gingival overgrowth
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3948"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001828 ! gingiva

[Term]
id: MONDO:0003397
name: gingival hypertrophy
def: "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells." [MESH:D005886]
synonym: "hypertrophy of gingivae" EXACT [DOID:5338]
xref: DOID:5338 {source="MONDO:equivalentTo"}
xref: MEDGEN:6603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005886 {source="MONDO:equivalentTo", source="DOID:5338"}
xref: SCTID:441787004 {source="DOID:5338"}
xref: SCTID:54711002 {source="DOID:5338"}
xref: UMLS:C0017567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6603"}
is_a: MONDO:0002507 {source="DOID:5338", source="MESH:D005886"} ! gingival overgrowth

[Term]
id: MONDO:0003398
name: anterograde amnesia
def: "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)" [MESH:D020324]
xref: DOID:5340 {source="MONDO:equivalentTo"}
xref: ICD10CM:R41.1 {source="MONDO:equivalentTo", source="DOID:5340"}
xref: MEDGEN:115938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020324 {source="MONDO:equivalentTo", source="DOID:5340"}
xref: SCTID:206789002 {source="DOID:5340"}
xref: SCTID:88822006 {source="DOID:5340"}
xref: UMLS:C0233795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:115938"}
is_a: MONDO:0001152 {source="DOID:5340"} ! amnestic disorder

[Term]
id: MONDO:0003399
name: pineal region yolk sac tumor
def: "A yolk sac tumor that involves the pineal body." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "endodermal sinus tumor of pineal region" RELATED [NCIT:C6752]
synonym: "endodermal sinus tumor of the pineal region" RELATED [NCIT:C6752]
synonym: "endodermal sinus tumour of pineal region" RELATED OMO:0003005 []
synonym: "endodermal sinus tumour of the pineal region" RELATED OMO:0003005 []
synonym: "pineal body yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "pineal body yolk sac tumour" EXACT OMO:0003005 []
synonym: "pineal endodermal sinus neoplasm" RELATED [NCIT:C6752]
synonym: "pineal endodermal sinus tumor" RELATED [NCIT:C6752]
synonym: "pineal endodermal sinus tumour" RELATED OMO:0003005 []
synonym: "pineal region endodermal sinus neoplasm" RELATED [NCIT:C6752]
synonym: "pineal region endodermal sinus tumor" RELATED [NCIT:C6752]
synonym: "pineal region endodermal sinus tumour" RELATED OMO:0003005 []
synonym: "pineal region yolk Sac neoplasm" EXACT [DOID:5341, NCIT:C6752]
synonym: "pineal region yolk sac tumor" EXACT [NCIT:C6752]
synonym: "yolk Sac tumor of pineal region" RELATED [NCIT:C6752]
synonym: "yolk Sac tumor of the pineal region" RELATED [NCIT:C6752]
synonym: "yolk Sac tumour of pineal region" RELATED OMO:0003005 []
synonym: "yolk Sac tumour of the pineal region" RELATED OMO:0003005 []
xref: DOID:5341 {source="MONDO:equivalentTo"}
xref: MEDGEN:277518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6752 {source="MONDO:equivalentTo", source="NCIT:C6752", source="DOID:5341"}
xref: UMLS:C1335420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277518"}
is_a: MONDO:0002073 {source="DOID:5341", source="MONDO:Redundant", source="NCIT:C6752"} ! malignant pineal area germ cell neoplasm
is_a: MONDO:0003000 {source="MONDO:Redundant", source="NCIT:C6752/inferred"} ! central nervous system germ cell tumor
is_a: MONDO:0003578 {source="NCIT:C6752"} ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C6752"} ! yolk sac tumor
intersection_of: MONDO:0005744 ! yolk sac tumor
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0003400
name: childhood endodermal sinus tumor
def: "A yolk sac tumor that occurs during childhood." [NCIT:C27364]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "childhood endodermal sinus neoplasm" EXACT [DOID:5342, NCIT:C27364]
synonym: "childhood endodermal sinus tumor" EXACT [NCIT:C27364]
synonym: "childhood yolk Sac neoplasm" RELATED [NCIT:C27364]
synonym: "childhood yolk Sac tumor" RELATED [NCIT:C27364]
synonym: "childhood yolk Sac tumour" RELATED OMO:0003005 []
synonym: "paediatric endodermal sinus neoplasm" RELATED OMO:0003005 []
synonym: "paediatric yolk Sac neoplasm" RELATED OMO:0003005 []
synonym: "paediatric yolk Sac tumour" EXACT OMO:0003005 []
synonym: "pediatric endodermal sinus neoplasm" RELATED [NCIT:C27364]
synonym: "pediatric yolk Sac neoplasm" RELATED [NCIT:C27364]
synonym: "pediatric yolk Sac tumor" EXACT [DOID:5342, NCIT:C27364]
xref: DOID:5342 {source="MONDO:equivalentTo"}
xref: MEDGEN:234139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27364 {source="NCIT:C27364", source="MONDO:equivalentTo", source="DOID:5342"}
xref: UMLS:C1333016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234139"}
is_a: MONDO:0004479 {source="NCIT:C27364"} ! malignant childhood germ cell neoplasm
is_a: MONDO:0005744 {source="DOID:5342", source="NCIT:C27364"} ! yolk sac tumor

[Term]
id: MONDO:0003401
name: central nervous system endodermal sinus tumor
def: "A yolk sac tumor that arises from the central nervous system and occurs during childhood." [NCIT:C6209]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system endodermal sinus tumor" EXACT [MONDO:patterns/location]
synonym: "central nervous system yolk Sac tumor" BROAD [NCIT:C6209]
synonym: "central nervous system yolk sac tumor" BROAD [MONDO:patterns/location]
synonym: "central nervous system yolk Sac tumour" BROAD OMO:0003005 []
synonym: "central nervous system yolk sac tumour" BROAD OMO:0003005 []
synonym: "childhood central nervous system endodermal sinus neoplasm" EXACT [DOID:5343, NCIT:C6209]
synonym: "childhood central nervous system endodermal sinus tumor" EXACT [NCIT:C6209]
synonym: "childhood central nervous system endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "childhood central nervous system yolk Sac neoplasm" BROAD [NCIT:C6209]
synonym: "childhood central nervous system yolk Sac tumor" BROAD [NCIT:C6209]
synonym: "childhood central nervous system yolk Sac tumour" BROAD OMO:0003005 []
synonym: "paediatric central nervous system endodermal sinus neoplasm" EXACT OMO:0003005 []
synonym: "paediatric central nervous system yolk Sac neoplasm" BROAD OMO:0003005 []
synonym: "paediatric central nervous system yolk Sac tumour" BROAD OMO:0003005 []
synonym: "pediatric central nervous system endodermal sinus neoplasm" EXACT [NCIT:C6209]
synonym: "pediatric central nervous system yolk Sac neoplasm" BROAD [NCIT:C6209]
synonym: "pediatric central nervous system yolk Sac tumor" BROAD [DOID:5343, NCIT:C6209]
synonym: "yolk Sac tumor of the CNS" BROAD [DOID:5343, NCIT:C7011]
synonym: "yolk Sac tumour of the CNS" BROAD OMO:0003005 []
xref: DOID:5343 {source="MONDO:equivalentTo"}
xref: MEDGEN:234604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6209 {source="DOID:5343", source="MONDO:equivalentTo"}
xref: NCIT:C7011 {source="DOID:5343"}
xref: UMLS:C1377613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234604"}
is_a: MONDO:0003000 {source="DOID:5343", source="MONDO:Entailed", source="NCIT:C6209/inferred"} ! central nervous system germ cell tumor
is_a: MONDO:0003400 {source="NCIT:C6209"} ! childhood endodermal sinus tumor
is_a: MONDO:0005744 {source="DOID:5343", source="MONDO:Entailed", source="NCIT:C6209/inferred"} ! yolk sac tumor
is_a: MONDO:0016739 {source="NCIT:C6209"} ! yolk sac tumor of central nervous system
intersection_of: MONDO:0005744 ! yolk sac tumor
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003402
name: testicular yolk sac tumor
def: "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." [NCIT:C8000]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endodermal sinus neoplasm of testis" RELATED [NCIT:C8000]
synonym: "endodermal sinus neoplasm of the testis" RELATED [NCIT:C8000]
synonym: "endodermal sinus tumor of testis" RELATED [NCIT:C8000]
synonym: "endodermal sinus tumor of the testis" RELATED [NCIT:C8000]
synonym: "endodermal sinus tumour of testis" RELATED OMO:0003005 []
synonym: "endodermal sinus tumour of the testis" RELATED OMO:0003005 []
synonym: "endodermal-sinus tumor" RELATED [GARD:0000348]
synonym: "endodermal-sinus tumour" RELATED OMO:0003005 []
synonym: "Orchidoblastoma" RELATED [GARD:0000348]
synonym: "testicular endodermal sinus neoplasm" RELATED [NCIT:C8000]
synonym: "testicular endodermal sinus tumor" RELATED [NCIT:C8000]
synonym: "testicular endodermal sinus tumour" RELATED OMO:0003005 []
synonym: "testicular yolk Sac neoplasm" EXACT [DOID:5344, NCIT:C8000]
synonym: "testicular yolk sac tumor" EXACT [MONDO:0006449, NCIT:C8000]
synonym: "testis yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "testis yolk sac tumour" EXACT OMO:0003005 []
synonym: "yolk Sac neoplasm of testis" RELATED [NCIT:C8000]
synonym: "yolk Sac neoplasm of the testis" RELATED [NCIT:C8000]
synonym: "yolk sac tumor" RELATED [ONCOTREE:TYST]
synonym: "yolk Sac tumor of testis" RELATED [NCIT:C8000]
synonym: "yolk Sac tumor of the testis" RELATED [NCIT:C8000]
synonym: "yolk sac tumour" RELATED OMO:0003005 []
synonym: "yolk Sac tumour of testis" RELATED OMO:0003005 []
synonym: "yolk Sac tumour of the testis" RELATED OMO:0003005 []
xref: DOID:5344 {source="MONDO:equivalentTo"}
xref: EFO:1000574 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8000 {source="DOID:5344", source="NCIT:C8000", source="MONDO:equivalentTo", source="EFO:1000574"}
xref: ONCOTREE:TYST {source="MONDO:equivalentTo"}
xref: UMLS:C0279708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79028"}
is_a: MONDO:0002874 {source="NCIT:C8000"} ! testicular pure germ cell tumor
is_a: MONDO:0003403 {source="DOID:5344", source="NCIT:C8000"} ! testicular non-seminomatous germ cell cancer
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C8000"} ! yolk sac tumor
intersection_of: MONDO:0005744 ! yolk sac tumor
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0003403
name: testicular non-seminomatous germ cell cancer
def: "A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor." [NCIT:C5027]
comment: Editor note: TODO owldef
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant non-seminomatous germ cell cancer of testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell cancer of the testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell neoplasm of testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell neoplasm of the testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell tumor of testis" EXACT [DOID:5345, NCIT:C5027]
synonym: "malignant non-seminomatous germ cell tumor of the testis" EXACT [NCIT:C5027]
synonym: "malignant non-seminomatous germ cell tumour of testis" EXACT OMO:0003005 []
synonym: "malignant non-seminomatous germ cell tumour of the testis" EXACT OMO:0003005 []
synonym: "malignant testicular non-seminomatous germ cell neoplasm" EXACT [NCIT:C5027]
synonym: "malignant testicular non-seminomatous germ cell tumor" EXACT [NCIT:C5027]
synonym: "malignant testicular non-seminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "testicular germ cell tumor non-seminomatous, malignant" EXACT [MONDO:patterns/malignant]
synonym: "testicular germ cell tumour non-seminomatous, malignant" EXACT OMO:0003005 []
synonym: "testicular non-seminomatous germ cell cancer" EXACT [NCIT:C5027]
synonym: "testicular non-seminomatous germ cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "testicular non-seminomatous malignant germ cell neoplasm" EXACT [NCIT:C5027]
synonym: "testicular nonseminomat. GCT, NOS" RELATED EXCLUDE [NCIT:C5027]
synonym: "testicular nonseminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C5027]
xref: DOID:5345 {source="MONDO:equivalentTo"}
xref: MEDGEN:233162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5027 {source="DOID:5345", source="MONDO:equivalentTo"}
xref: UMLS:C1334625 {source="MEDGEN:233162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003510 {source="DOID:5345", source="MONDO:Redundant", source="NCIT:C5027"} ! malignant testicular germ cell tumor
is_a: MONDO:0006447 {source="MONDO:Redundant", source="NCIT:C5027"} ! testicular non-seminomatous germ cell tumor
intersection_of: MONDO:0006447 ! testicular non-seminomatous germ cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003404
name: adult yolk sac tumor
def: "A yolk sac tumor that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult endodermal sinus neoplasm" EXACT [DOID:5348, NCIT:C27241]
synonym: "adult endodermal sinus tumor" EXACT [NCIT:C27241]
synonym: "adult endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "adult yolk Sac neoplasm" EXACT [DOID:5348, NCIT:C27241]
synonym: "adult yolk Sac tumor" EXACT [NCIT:C27241]
synonym: "adult yolk Sac tumour" EXACT OMO:0003005 []
synonym: "yolk Sac tumor" BROAD [NCIT:C27241]
synonym: "yolk sac tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "yolk Sac tumour" BROAD OMO:0003005 []
synonym: "yolk sac tumour of adults" EXACT OMO:0003005 []
xref: DOID:5348 {source="MONDO:equivalentTo"}
xref: MEDGEN:231046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27241 {source="DOID:5348", source="MONDO:equivalentTo"}
xref: UMLS:C1332221 {source="MEDGEN:231046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005744 {source="DOID:5348", source="MONDO:Redundant", source="NCIT:C27241"} ! yolk sac tumor
intersection_of: MONDO:0005744 ! yolk sac tumor
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003405
name: adult central nervous system germ cell tumor
def: "A germ cell tumor of the central nervous system occurring in adults." [NCIT:C6285]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult central nervous system germ cell neoplasm" EXACT [NCIT:C6285]
synonym: "adult central nervous system germ cell tumor" EXACT [NCIT:C6285]
synonym: "adult CNS germ cell neoplasm" EXACT [NCIT:C6285]
synonym: "adult CNS germ cell tumor" EXACT [NCIT:C6285]
synonym: "adult CNS germ cell tumour" EXACT OMO:0003005 []
synonym: "central nervous system adult germ cell tumor" RELATED [DOID:5349]
synonym: "central nervous system adult germ cell tumour" RELATED OMO:0003005 []
synonym: "central nervous system germ cell tumor" BROAD [NCIT:C6285]
synonym: "central nervous system germ cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "central nervous system germ cell tumour" BROAD OMO:0003005 []
synonym: "central nervous system germ cell tumour of adults" EXACT OMO:0003005 []
synonym: "germ cell neoplasm of adult central nervous system" EXACT [NCIT:C6285]
synonym: "germ cell neoplasm of adult CNS" EXACT [NCIT:C6285]
synonym: "germ cell neoplasm of the adult central nervous system" EXACT [NCIT:C6285]
synonym: "germ cell neoplasm of the adult CNS" EXACT [NCIT:C6285]
synonym: "germ cell tumor of adult central nervous system" EXACT [NCIT:C6285]
synonym: "germ cell tumor of adult CNS" EXACT [NCIT:C6285]
synonym: "germ cell tumor of the adult central nervous system" EXACT [NCIT:C6285]
synonym: "germ cell tumor of the adult CNS" EXACT [DOID:5349, NCIT:C6285]
synonym: "germ cell tumour of adult central nervous system" EXACT OMO:0003005 []
synonym: "germ cell tumour of adult CNS" EXACT OMO:0003005 []
synonym: "germ cell tumour of the adult central nervous system" EXACT OMO:0003005 []
synonym: "germ cell tumour of the adult CNS" EXACT OMO:0003005 []
xref: DOID:5349 {source="MONDO:equivalentTo"}
xref: MEDGEN:128893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6285 {source="MONDO:equivalentTo", source="DOID:5349"}
xref: UMLS:C0280796 {source="MEDGEN:128893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003000 {source="DOID:5349", source="MONDO:Redundant", source="NCIT:C6285"} ! central nervous system germ cell tumor
is_a: MONDO:0044878 {source="MONDO:Redundant", source="NCIT:C6285"} ! adult germ cell tumor
intersection_of: MONDO:0003000 ! central nervous system germ cell tumor
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003406
name: sleep-wake disorder
def: "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle." [MESH:D012893]
subset: otar {source="MONDO:OTAR"}
synonym: "circadian dysregulation" RELATED []
synonym: "disorder of sleep-wake cycle" EXACT []
synonym: "disorder of sleep-wake schedule" RELATED []
synonym: "disorder, sleep" RELATED [MESH:D012893]
synonym: "disorder, sleep wake" RELATED [MESH:D012893]
synonym: "disorders of the sleep-wake schedule" RELATED []
synonym: "disorders, sleep" RELATED [MESH:D012893]
synonym: "disorders, sleep wake" RELATED [MESH:D012893]
synonym: "disturbed nyctohemeral rhythm" RELATED []
synonym: "long sleeper syndrome" RELATED [MESH:D012893]
synonym: "long sleeper syndromes" RELATED [MESH:D012893]
synonym: "neurogenic tachypnea, sleep-related" RELATED [MESH:D012893]
synonym: "neurogenic Tachypneas, sleep-related" RELATED [MESH:D012893]
synonym: "non-organic sleep disorder" RELATED [DOID:535]
synonym: "phenotype, short sleep" RELATED [MESH:D012893]
synonym: "phenotypes, short sleep" RELATED [MESH:D012893]
synonym: "short sleep phenotype" RELATED [MESH:D012893]
synonym: "short sleep phenotypes" RELATED [MESH:D012893]
synonym: "short sleeper syndrome" RELATED [MESH:D012893]
synonym: "short sleeper syndromes" RELATED [MESH:D012893]
synonym: "sleep disorder" RELATED [MESH:D012893]
synonym: "sleep disorders" RELATED [MESH:D012893]
synonym: "sleep phenotypes, short" RELATED [MESH:D012893]
synonym: "sleep related neurogenic tachypnea" RELATED [MESH:D012893]
synonym: "sleep wake disorder" EXACT [MESH:D012893]
synonym: "sleep-related neurogenic tachypnea" RELATED [MESH:D012893]
synonym: "sleep-related neurogenic Tachypneas" RELATED [MESH:D012893]
synonym: "sleeper syndrome, long" RELATED [MESH:D012893]
synonym: "sleeper syndrome, short" RELATED [MESH:D012893]
synonym: "sleeper syndromes, long" RELATED [MESH:D012893]
synonym: "sleeper syndromes, short" RELATED [MESH:D012893]
synonym: "Subwakefullness syndrome" RELATED [MESH:D012893]
synonym: "Subwakefullness syndromes" RELATED [MESH:D012893]
synonym: "syndrome, long sleeper" RELATED [MESH:D012893]
synonym: "syndrome, short sleeper" RELATED [MESH:D012893]
synonym: "syndrome, Subwakefullness" RELATED [MESH:D012893]
synonym: "syndromes, long sleeper" RELATED [MESH:D012893]
synonym: "syndromes, short sleeper" RELATED [MESH:D012893]
synonym: "syndromes, Subwakefullness" RELATED [MESH:D012893]
synonym: "tachypnea, sleep-related neurogenic" RELATED [MESH:D012893]
synonym: "Tachypneas, sleep-related neurogenic" RELATED [MESH:D012893]
synonym: "wake disorder, sleep" RELATED [MESH:D012893]
synonym: "wake disorders, sleep" RELATED [MESH:D012893]
xref: DOID:535 {source="MONDO:equivalentTo"}
xref: ICD10CM:G47 {source="MONDO:equivalentTo"}
xref: ICD9:307.4 {source="DOID:535"}
xref: ICD9:307.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:307.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:167920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012893 {source="MONDO:equivalentTo"}
xref: SCTID:39898005 {source="MONDO:equivalentTo"}
xref: UMLS:C0877792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167920"}
is_a: MONDO:0100081 {source="https://github.com/monarch-initiative/mondo/issues/531"} ! sleep disorder
relationship: excluded_subClassOf MONDO:0002025 {source="MESH:D012893", source="https://orcid.org/0000-0001-5208-3432"} ! psychiatric disorder
relationship: excluded_subClassOf MONDO:0005071 {source="EFO:0008568/inferred", source="ICD10CM:G47/inferred", source="MESH:D012893", source="MESH:D012893/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder

[Term]
id: MONDO:0003407
name: obsolete ovarian yolk sac tumor
is_obsolete: true
replaced_by: MONDO:0006344

[Term]
id: MONDO:0003408
name: ovarian primitive germ cell tumor
def: "A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component." [NCIT:C39986]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovarian primitive germ cell tumor" EXACT [NCIT:C39986]
xref: DOID:5351 {source="MONDO:equivalentTo"}
xref: MEDGEN:275291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39986 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5351"}
xref: UMLS:C1518727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275291"}
is_a: MONDO:0018171 {source="DOID:5351", source="NCIT:C39986"} ! malignant germ cell tumor of ovary

[Term]
id: MONDO:0003409
name: colonic disorder
def: "Pathological processes in the colon region of the large intestine (intestine, large)." [MESH:D003108]
subset: otar {source="MONDO:OTAR"}
synonym: "colon disease" EXACT [MONDO:patterns/location]
synonym: "colon disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "colon disorder" EXACT [DOID:5353]
synonym: "disease of colon" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of colon" EXACT []
synonym: "disorder of colon" EXACT [MONDO:patterns/location_top]
xref: DOID:5353 {source="MONDO:equivalentTo"}
xref: MEDGEN:1049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003108 {source="MONDO:equivalentTo", source="DOID:5353"}
xref: SCTID:128524007 {source="MONDO:equivalentTo", source="DOID:5353"}
xref: UMLS:C0009373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1049"}
is_a: MONDO:0005020 {source="DOID:5353", source="MESH:D003108", source="MONDO:Entailed"} ! intestinal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0003410
name: Wolffian duct adenocarcinoma
def: "A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells." [NCIT:C40254]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical mesonephric adenocarcinoma" EXACT [NCIT:C40254]
synonym: "mesonephric duct adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "Wolffian duct adenocarcinoma" EXACT [NCIT:C40254]
xref: DOID:5368 {source="MONDO:equivalentTo"}
xref: MEDGEN:273908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40254 {source="DOID:5368", source="MONDO:equivalentTo"}
xref: UMLS:C1516419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273908"}
is_a: MONDO:0005153 {source="DOID:5368", source="NCIT:C40254"} ! cervical adenocarcinoma
is_a: MONDO:0005613 {source="NCIT:C40254"} ! mesonephric adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0003074 ! mesonephric duct

[Term]
id: MONDO:0003411
name: breast hemangiopericytoma
def: "A hemangiopericytoma arising from the breast." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "breast hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "breast spindle cell tumor" EXACT [MONDO:patterns/location]
synonym: "breast spindle cell tumour" EXACT OMO:0003005 []
xref: DOID:5370 {source="MONDO:equivalentTo"}
xref: MEDGEN:267766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40396 {source="MONDO:equivalentTo", source="DOID:5370"}
xref: UMLS:C1511313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267766"}
is_a: MONDO:0005094 {source="DOID:5370", source="MONDO:Redundant", source="NCIT:C40396"} ! hemangiopericytoma
intersection_of: MONDO:0005094 ! hemangiopericytoma
intersection_of: disease_has_location UBERON:0000310 ! breast
relationship: excluded_subClassOf MONDO:0002490 {source="DOID:5370", source="https://orcid.org/0000-0001-5208-3432"} ! breast sarcoma

[Term]
id: MONDO:0003412
name: retroperitoneal hemangiopericytoma
def: "A benign or malignant hemangiopericytoma arising from the retroperitoneum." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "retroperitoneal space hemangiopericytoma" EXACT [MONDO:patterns/location]
xref: DOID:5373 {source="MONDO:equivalentTo"}
xref: MEDGEN:277597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5386 {source="MONDO:equivalentTo", source="DOID:5373"}
xref: UMLS:C1335777 {source="MONDO:equivalentTo", source="MEDGEN:277597", source="MONDO:MEDGEN"}
is_a: MONDO:0005094 {source="DOID:5373", source="MONDO:Redundant", source="NCIT:C5386"} ! hemangiopericytoma
intersection_of: MONDO:0005094 ! hemangiopericytoma
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space

[Term]
id: MONDO:0003413
name: hair follicle neoplasm
def: "A benign or malignant neoplasm arising from the hair follicle." [NCIT:C7367]
subset: otar {source="MONDO:OTAR"}
synonym: "hair follicle neoplasm" EXACT [NCIT:C7367]
synonym: "hair follicle neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hair follicle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7367]
synonym: "hair follicle tumour" EXACT OMO:0003005 []
synonym: "hair matrix neoplasm" RELATED [DOID:5375, NCIT:C7367]
synonym: "hair matrix tumor" RELATED [DOID:5375, NCIT:C7367]
synonym: "hair matrix tumour" RELATED OMO:0003005 []
synonym: "neoplasm of hair follicle" EXACT [MONDO:patterns/neoplasm, NCIT:C7367]
synonym: "neoplasm of the hair follicle" EXACT [NCIT:C7367]
synonym: "tumor of hair follicle" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of hair follicle" EXACT OMO:0003005 []
xref: DOID:5375 {source="MONDO:equivalentTo"}
xref: MEDGEN:167814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7367 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5375"}
xref: SCTID:44155009 {source="DOID:5375"}
xref: UMLS:C0859920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167814"}
is_a: MONDO:0002297 {source="NCIT:C7367"} ! epidermal appendage tumor
is_a: MONDO:0002531 {source="DOID:5375", source="MONDO:Redundant", source="NCIT:C7367/inferred"} ! skin neoplasm
is_a: MONDO:0002917 {source="MONDO:Redundant", source="NCIT:C7367"} ! disorder of pilosebaceous unit
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002073 ! hair follicle

[Term]
id: MONDO:0003414
name: skin pilomatrix carcinoma
def: "A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites." [NCIT:P378]
subset: gard_rare {source="GARD:22042", source="MONDO:GARD"}
subset: mondo_rare {source="https://orcid.org/0000-0002-6195-6976"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:499182"}
subset: orphanet_rare {source="Orphanet:499182"}
subset: rare
synonym: "calcified epithelial carcinoma of Malherbe" EXACT [Orphanet:499182]
synonym: "calcifying epitheliocarcinoma" EXACT [Orphanet:499182]
synonym: "invasive pilomatrixoma" EXACT [NCIT:C4114]
synonym: "malignant pilomatricoma" EXACT [DOID:5376, NCIT:C4114, Orphanet:499182]
synonym: "matrical carcinoma" EXACT [NCIT:C4114]
synonym: "Pilomatrical carcinoma" EXACT [NCIT:C4114]
synonym: "pilomatricoma, malignant" EXACT [DOID:5376]
synonym: "pilomatrix carcinoma" EXACT [NCIT:C4114]
synonym: "pilomatrix carcinoma of skin" EXACT [DOID:5376, NCIT:C4114]
synonym: "pilomatrix carcinoma of the skin" EXACT [NCIT:C4114]
synonym: "pilomatrix skin carcinoma" EXACT [NCIT:C4114]
synonym: "Trichomatrical carcinoma" EXACT [Orphanet:499182]
xref: DOID:5376 {source="MONDO:equivalentTo"}
xref: GARD:22042 {source="MONDO:GARD"}
xref: ICD10CM:C44.3 {source="Orphanet:499182"}
xref: ICD10CM:C44.4 {source="Orphanet:499182"}
xref: ICDO:8110/3 {source="NCIT:C4114"}
xref: MEDGEN:108439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4114 {source="DOID:5376", source="MONDO:equivalentTo"}
xref: Orphanet:499182 {source="MONDO:equivalentTo"}
xref: SCTID:24762001 {source="DOID:5376"}
xref: SCTID:307610008 {source="DOID:5376", source="MONDO:equivalentTo"}
xref: UMLS:C0585475 {source="MONDO:equivalentTo", source="MEDGEN:108439", source="MONDO:MEDGEN"}
is_a: MONDO:0002656 {source="DOID:5376", source="MONDO:Redundant", source="NCIT:C4114/inferred"} ! skin carcinoma
is_a: MONDO:0006973 {source="NCIT:C4114"} ! skin appendage carcinoma
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:499182", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_characteristic MONDO:0021136 {source="https://orcid.org/0000-0002-6195-6976"} ! rare

[Term]
id: MONDO:0003415
name: obsolete hemoglobin d disease
is_obsolete: true
replaced_by: MONDO:0019537

[Term]
id: MONDO:0003416
name: obsolete hemoglobin E disease
is_obsolete: true
replaced_by: MONDO:0016243

[Term]
id: MONDO:0003417
name: internuclear ophthalmoplegia
xref: DOID:538 {source="MONDO:equivalentTo"}
xref: ICD10CM:H51.2 {source="DOID:538", source="MONDO:equivalentTo"}
xref: ICD9:378.86 {source="DOID:538", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015835 {source="DOID:538"}
xref: SCTID:49823009 {source="DOID:538", source="MONDO:equivalentTo"}
xref: UMLS:C0152134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101820"}
is_a: MONDO:0003425 {source="DOID:538"} ! ophthalmoplegia
is_a: MONDO:0003432 {source="DOID:538"} ! strabismus

[Term]
id: MONDO:0003418
name: obsolete bile duct adenoma
is_obsolete: true
replaced_by: MONDO:0006108

[Term]
id: MONDO:0003419
name: Bartholin gland adenoma
def: "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells." [NCIT:P378]
synonym: "Bartholin gland adenoma" EXACT [DOID:5382, NCIT:C40299]
synonym: "Bartholin's gland adenoma" EXACT [NCIT:C40299]
synonym: "major vestibular gland adenoma" EXACT [MONDO:patterns/location]
xref: DOID:5382 {source="MONDO:equivalentTo"}
xref: MEDGEN:267025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40299 {source="MONDO:equivalentTo", source="DOID:5382"}
xref: UMLS:C1511048 {source="MEDGEN:267025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002193 {source="DOID:5382"} ! Bartholin gland benign neoplasm
is_a: MONDO:0002198 {source="NCIT:C40299"} ! vulvar glandular neoplasm
is_a: MONDO:0004972 {source="DOID:5382", source="MONDO:Redundant", source="NCIT:C40299"} ! adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0003420
name: bile duct cystadenoma
def: "An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid." [NCIT:P378]
synonym: "bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C4129]
synonym: "bile duct cystadenoma (morphologic abnormality)" EXACT [DOID:5384]
synonym: "bile duct mucinous cystic neoplasm" EXACT [NCIT:C4129]
synonym: "cystadenoma of bile duct" EXACT [NCIT:C4129]
synonym: "cystadenoma of the bile duct" EXACT [DOID:5384, NCIT:C4129]
xref: DOID:5384 {source="MONDO:equivalentTo"}
xref: ICDO:8161/0 {source="NCIT:C4129"}
xref: MEDGEN:90756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4129 {source="MONDO:equivalentTo", source="DOID:5384"}
xref: SCTID:83025009 {source="DOID:5384"}
xref: UMLS:C0334285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90756"}
is_a: MONDO:0002369 {source="DOID:5384", source="MONDO:Redundant"} ! cystadenoma
is_a: MONDO:0006108 {source="DOID:5384", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct adenoma
intersection_of: MONDO:0002369 ! cystadenoma
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0003421
name: mixed cell adenoma
def: "An adenoma characterized by the presence of a mixed epithelial cell population." [NCIT:C4157]
synonym: "mixed cell adenoma" EXACT [NCIT:C4157]
xref: DOID:5385 {source="MONDO:equivalentTo"}
xref: ICDO:8323/0 {source="NCIT:C4157"}
xref: MEDGEN:83131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4157 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5385"}
xref: SCTID:89773001 {source="DOID:5385"}
xref: UMLS:C0334323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83131"}
is_a: MONDO:0004972 {source="DOID:5385", source="NCIT:C4157"} ! adenoma
is_a: MONDO:0021043 {source="NCIT:C4157"} ! mixed neoplasm

[Term]
id: MONDO:0003422
name: lung adenoma
def: "A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma." [NCIT:C4455]
synonym: "adenoma of lung" EXACT [DOID:5386, NCIT:C4455]
synonym: "adenoma of the lung" EXACT [NCIT:C4455]
synonym: "lung adenoma" EXACT [MONDO:patterns/location, NCIT:C4455]
synonym: "pulmonary adenoma" EXACT [DOID:5386, NCIT:C4455]
xref: DOID:5386 {source="MONDO:equivalentTo"}
xref: MEDGEN:83394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4455 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5386"}
xref: SCTID:254642004 {source="MONDO:equivalentTo", source="DOID:5386"}
xref: UMLS:C0345964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83394"}
is_a: MONDO:0002732 {source="DOID:5386", source="NCIT:C4455"} ! lung benign neoplasm
is_a: MONDO:0004972 {source="DOID:5386", source="MONDO:Redundant", source="NCIT:C4455"} ! adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003423
name: middle ear adenoma
def: "A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss." [NCIT:P378]
synonym: "adenoma of middle ear" RELATED [DOID:5387]
synonym: "adenoma of the middle ear" EXACT [DOID:5387, NCIT:C6834]
synonym: "middle ear adenoma" EXACT [MONDO:patterns/location]
xref: DOID:5387 {source="MONDO:equivalentTo"}
xref: MEDGEN:277370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6834 {source="DOID:5387", source="MONDO:equivalentTo"}
xref: SCTID:734078009 {source="MONDO:equivalentTo"}
xref: UMLS:C1334759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277370"}
is_a: MONDO:0000633 {source="DOID:5387", source="MONDO:Redundant", source="MONDO:indirect"} ! sensory organ benign neoplasm
is_a: MONDO:0003276 {source="DOID:5387", source="MONDO:Redundant", source="NCIT:C6834/inferred"} ! middle ear disorder
is_a: MONDO:0004972 {source="DOID:5387", source="MONDO:Redundant", source="NCIT:C6834"} ! adenoma
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C6834/inferred"} ! head and neck neoplasm
is_a: MONDO:0021482 {source="MONDO:Redundant", source="NCIT:C6834"} ! benign neoplasm of middle ear
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0003424
name: oncocytic adenoma
def: "A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland." [NCIT:C3759]
subset: otar {source="MONDO:OTAR"}
synonym: "follicular adenoma, oxyphilic cell" EXACT [DOID:5389]
synonym: "oncocytic adenoma" EXACT [NCIT:C3759]
synonym: "oncocytoma" EXACT [DOID:5389, NCIT:C3759]
synonym: "oxyphilic adenoma" EXACT [NCIT:C3759]
xref: DOID:5389 {source="MONDO:equivalentTo"}
xref: EFO:1001079 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8290/0 {source="NCIT:C3759"}
xref: MEDGEN:307150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018249 {source="DOID:5389"}
xref: NCIT:C3759 {source="NCIT:C3759", source="DOID:5389", source="MONDO:equivalentTo"}
xref: SCTID:89439007 {source="DOID:5389"}
xref: UMLS:C1510502 {source="MEDGEN:307150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C3759"} ! adenoma
is_a: MONDO:0010795 {source="MONDO:Redundant", source="NCIT:C3759"} ! oncocytic neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: MONDO:0010795 ! oncocytic neoplasm
relationship: excluded_subClassOf MONDO:0000627 {source="DOID:5389", source="https://orcid.org/0000-0001-5208-3432"} ! benign endocrine neoplasm

[Term]
id: MONDO:0003425
name: ophthalmoplegia
def: "Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis." [NCIT:P378]
synonym: "oculomotor paralysis" RELATED [DOID:539]
synonym: "total ophthalmoplegia" EXACT [DOID:539]
xref: DOID:539 {source="MONDO:equivalentTo"}
xref: ICD9:378.56 {source="MONDO:equivalentTo", source="DOID:539", source="MONDO:i2s"}
xref: MEDGEN:45205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009886 {source="MONDO:equivalentTo", source="DOID:539"}
xref: NCIT:C79697 {source="MONDO:otherHierarchy", source="DOID:539"}
xref: SCTID:155196009 {source="DOID:539"}
xref: SCTID:16110005 {source="DOID:539"}
xref: SCTID:267745004 {source="DOID:539"}
xref: SCTID:78097002 {source="MONDO:equivalentTo", source="DOID:539"}
xref: UMLS:C0029089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45205"}
is_a: MONDO:0001584 {source="DOID:539"} ! ocular motility disease
is_a: MONDO:0006496 {source="MESH:D009886"} ! palsy

[Term]
id: MONDO:0003426
name: clear cell adenoma
def: "A benign neoplasm composed of glands containing epithelial clear cells." [NCIT:C4151]
synonym: "adenoma, clear cell, benign" EXACT [NCIT:C4151]
synonym: "clear cell adenoma" EXACT [NCIT:C4151]
synonym: "clear cell adenoma (morphologic abnormality)" EXACT [DOID:5390]
xref: DOID:5390 {source="MONDO:equivalentTo"}
xref: ICDO:8310/0 {source="NCIT:C4151"}
xref: MEDGEN:90761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4151 {source="MONDO:equivalentTo", source="DOID:5390", source="MONDO:exact-label-match"}
xref: SCTID:1752006 {source="DOID:5390"}
xref: UMLS:C0334315 {source="MEDGEN:90761", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="DOID:5390", source="NCIT:C4151"} ! adenoma

[Term]
id: MONDO:0003427
name: bronchus adenoma
def: "A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative." [NCIT:C3494]
synonym: "adenoma of bronchus" EXACT [NCIT:C3494]
synonym: "adenoma of the bronchus" EXACT [DOID:5391, NCIT:C3494]
synonym: "adenoma, bronchial, benign" EXACT [NCIT:C3494]
synonym: "bronchial adenoma" EXACT [DOID:5391, NCIT:C3494]
synonym: "bronchial adenoma NOS (morphologic abnormality)" EXACT [DOID:5391]
synonym: "bronchial adenoma, NOS" RELATED EXCLUDE [DOID:5391]
synonym: "bronchus adenoma" EXACT [MONDO:patterns/location]
synonym: "lung papillary adenoma" EXACT [NCIT:C3494]
synonym: "papillary adenoma of type II pneumocytes" EXACT [NCIT:C3494]
synonym: "peripheral papillary tumor of type II pneumocytes" EXACT [NCIT:C3494]
synonym: "peripheral papillary tumour of type II pneumocytes" EXACT OMO:0003005 []
synonym: "type II pneumocyte adenoma" EXACT [NCIT:C3494]
xref: DOID:5391 {source="MONDO:equivalentTo"}
xref: ICDO:8260/0 {source="NCIT:C3494"}
xref: MEDGEN:56206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3494 {source="MONDO:equivalentTo", source="DOID:5391"}
xref: SCTID:189617001 {source="DOID:5391"}
xref: SCTID:24482001 {source="DOID:5391"}
xref: UMLS:C0149845 {source="MEDGEN:56206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002533 {source="MONDO:Redundant", source="NCIT:C3494"} ! papillary adenoma
is_a: MONDO:0003422 {source="DOID:5391", source="NCIT:C3494"} ! lung adenoma
intersection_of: MONDO:0002533 ! papillary adenoma
intersection_of: disease_has_location UBERON:0002185 ! bronchus

[Term]
id: MONDO:0003428
name: brain hemangioma
def: "A hemangioma arising from the brain." [NCIT:C7739]
synonym: "brain angioma" EXACT [NCIT:C7739]
synonym: "brain hemangioma" EXACT [NCIT:C7739]
xref: DOID:5393 {source="MONDO:equivalentTo"}
xref: MEDGEN:116075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7739 {source="MONDO:equivalentTo", source="DOID:5393"}
xref: UMLS:C0238814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116075"}
is_a: MONDO:0002328 {source="DOID:5393", source="NCIT:C7739"} ! intracranial hemangioma

[Term]
id: MONDO:0003429
name: functioning pituitary gland adenoma
def: "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome." [NCIT:C8388]
subset: disease_grouping
subset: gard_rare {source="GARD:21389", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:314753"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endocrine active pituitary adenoma" EXACT [Orphanet:314753]
synonym: "functioning adenoma of pituitary" EXACT [NCIT:C8388]
synonym: "functioning adenoma of pituitary gland" EXACT [NCIT:C8388]
synonym: "functioning adenoma of the pituitary" EXACT [NCIT:C8388]
synonym: "functioning adenoma of the pituitary gland" EXACT [NCIT:C8388]
synonym: "functioning pituitary adenoma" EXACT [MONDO:0017821, NCIT:C8388]
synonym: "functioning pituitary gland adenoma" EXACT [NCIT:C8388]
synonym: "functioning pituitary gland adenoma (benign)" EXACT [NCIT:C8388]
synonym: "secreting pituitary adenoma" EXACT [Orphanet:314753]
synonym: "secretory adenoma of pituitary" EXACT [NCIT:C8388]
synonym: "secretory adenoma of pituitary gland" EXACT [NCIT:C8388]
synonym: "secretory adenoma of the pituitary" EXACT [NCIT:C8388]
synonym: "secretory adenoma of the pituitary gland" EXACT [DOID:5395, NCIT:C8388]
synonym: "secretory pituitary adenoma" EXACT [NCIT:C8388]
synonym: "secretory pituitary gland adenoma" EXACT [NCIT:C8388]
xref: DOID:5395 {source="MONDO:equivalentTo"}
xref: GARD:21389 {source="MONDO:GARD"}
xref: MEDGEN:163135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8388 {source="MONDO:equivalentTo", source="DOID:5395"}
xref: Orphanet:314753 {source="MONDO:equivalentTo"}
xref: UMLS:C0854486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163135"}
is_a: MONDO:0003604 {source="MONDO:Redundant", source="NCIT:C8388"} ! functioning pituitary gland neoplasm
is_a: MONDO:0006373 {source="DOID:5395", source="MONDO:Redundant", source="NCIT:C8388", source="Orphanet:314753"} ! pituitary gland adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_feature NCIT:C45981 ! Presence of a Hormonal Syndrome
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
intersection_of: realized_in GO:0046879 ! hormone secretion

[Term]
id: MONDO:0003430
name: prolactin producing pituitary tumor
def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "malignant prolactin producing neoplasm of pituitary gland" NARROW [DOID:5396]
synonym: "malignant prolactinoma" NARROW [DOID:5396, NCIT:C5962]
synonym: "PRL producing pituitary gland neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin producing neoplasm of pituitary" EXACT [NCIT:C7910]
synonym: "prolactin producing neoplasm of pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin producing neoplasm of the pituitary" EXACT [NCIT:C7910]
synonym: "prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary gland neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary gland tumor" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "prolactin producing pituitary neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin producing pituitary tumor" EXACT [NCIT:C7910]
synonym: "prolactin producing tumor of pituitary" EXACT [NCIT:C7910]
synonym: "prolactin producing tumor of pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin producing tumor of the pituitary" EXACT [NCIT:C7910]
synonym: "prolactin producing tumor of the pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "prolactin producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "prolactin producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "prolactin producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "prolactin secreting neoplasm of pituitary" EXACT [NCIT:C7910]
synonym: "prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C7910]
synonym: "prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary gland tumor" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "prolactin secreting pituitary neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary tumor" EXACT [NCIT:C7910]
synonym: "prolactin secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "prolactin secreting tumor of pituitary" EXACT [DOID:5396, NCIT:C7910]
synonym: "prolactin secreting tumor of pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin secreting tumor of the pituitary" EXACT [NCIT:C7910]
synonym: "prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C7910]
synonym: "prolactin secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "prolactin secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "prolactin secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "prolactin secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "prolactin-producing pituitary gland carcinoma" RELATED EXCLUDE [DOID:5396]
synonym: "prolactin-producing pituitary gland neoplasm" EXACT [NCIT:C7910]
synonym: "prolactin-producing pituitary gland tumor" EXACT [NCIT:C7910]
synonym: "prolactin-producing pituitary gland tumour" EXACT OMO:0003005 []
xref: DOID:5396 {source="MONDO:equivalentTo"}
xref: MEDGEN:82998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5962 {source="DOID:5396"}
xref: NCIT:C7910 {source="MONDO:equivalentObsolete", source="DOID:5396"}
xref: UMLS:C0278863 {source="MEDGEN:82998", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002082 {source="MONDO:Entailed", source="NCIT:C7910/inferred"} ! endocrine gland neoplasm
is_a: MONDO:0003381 {source="DOID:5396/inferred", source="MONDO:Entailed", source="NCIT:C7910/inferred"} ! pituitary gland disorder
is_a: MONDO:0005070 {source="DOID:5396/inferred", source="MONDO:Redundant", source="NCIT:C7910/inferred"} ! neoplasm
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C7910/inferred"} ! central nervous system neoplasm
is_a: MONDO:0021211 {source="MONDO:Entailed", source="NCIT:C7910/inferred"} ! brain neoplasm
relationship: disease_has_location UBERON:0000007 ! pituitary gland

[Term]
id: MONDO:0003431
name: lipoadenoma
def: "An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells." [NCIT:C4159]
synonym: "adenolipoma, benign" EXACT [NCIT:C4159]
synonym: "lipoadenoma" EXACT [NCIT:C4159]
synonym: "lipoadenoma (morphologic abnormality)" EXACT [DOID:5398]
xref: DOID:5398 {source="MONDO:equivalentTo"}
xref: ICDO:8324/0 {source="NCIT:C4159"}
xref: MEDGEN:83133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4159 {source="DOID:5398", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:22024005 {source="DOID:5398"}
xref: UMLS:C0334325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83133"}
is_a: MONDO:0004972 {source="DOID:5398", source="MONDO:Redundant", source="NCIT:C4159"} ! adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_arises_from_structure CL:0000136 ! adipocyte

[Term]
id: MONDO:0003432
name: strabismus
def: "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected." [NCIT:P378]
synonym: "squint" EXACT [NCIT:C35040]
synonym: "strabismus" EXACT [NCIT:C35040]
xref: DOID:540 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.8 {source="DOID:540"}
xref: ICD10CM:H50.89 {source="DOID:540"}
xref: ICD9:378.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:378.7 {source="DOID:540"}
xref: MEDGEN:21337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013285 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C35040 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:194125000 {source="DOID:540"}
xref: SCTID:194128003 {source="DOID:540"}
xref: SCTID:194651002 {source="DOID:540"}
xref: SCTID:22066006 {source="MONDO:equivalentTo"}
xref: UMLS:C0038379 {source="MEDGEN:21337", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001584 {source="DOID:540"} ! ocular motility disease
relationship: excluded_subClassOf MONDO:0004891 {source="DOID:540", source="https://orcid.org/0000-0001-5208-3432"} ! hyperopia

[Term]
id: MONDO:0003433
name: water-clear cell adenoma
def: "A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular." [NCIT:P378]
synonym: "parathyroid gland water-clear cell adenoma" EXACT [NCIT:C4155]
synonym: "water-clear cell adenoma (morphologic abnormality)" EXACT [DOID:5401]
xref: DOID:5401 {source="MONDO:equivalentTo"}
xref: ICDO:8322/0 {source="NCIT:C4155"}
xref: MEDGEN:83129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4155 {source="DOID:5401", source="MONDO:equivalentTo"}
xref: SCTID:26638004 {source="DOID:5401"}
xref: UMLS:C0334321 {source="MONDO:equivalentTo", source="MEDGEN:83129", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="DOID:5401", source="NCIT:C4155/inferred"} ! adenoma

[Term]
id: MONDO:0003434
name: vaginal adenoma
def: "A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation." [NCIT:C40256]
synonym: "vagina adenoma" EXACT [MONDO:patterns/location]
synonym: "vaginal adenoma" EXACT [NCIT:C40256]
xref: DOID:5402 {source="MONDO:equivalentTo"}
xref: MEDGEN:274377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40256 {source="DOID:5402", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274377"}
is_a: MONDO:0001704 {source="NCIT:C40256"} ! vaginal glandular neoplasm
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C40256"} ! adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0003435
name: microcystic adenoma
def: "A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia." [NCIT:C3685]
synonym: "microcystic adenoma" EXACT [DOID:5403, NCIT:C3685]
synonym: "microcystic adenoma (morphologic abnormality)" EXACT [DOID:5403]
xref: DOID:5403 {source="MONDO:equivalentTo"}
xref: ICDO:8202/0 {source="NCIT:C3685"}
xref: MEDGEN:64420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000236 {source="DOID:5403"}
xref: NCIT:C3685 {source="DOID:5403", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:189580001 {source="DOID:5403"}
xref: SCTID:79494009 {source="DOID:5403"}
xref: UMLS:C0205648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64420"}
is_a: MONDO:0004972 {source="DOID:5403", source="NCIT:C3685"} ! adenoma

[Term]
id: MONDO:0003436
name: obsolete lung oat cell carcinoma
comment: Duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1579" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008433

[Term]
id: MONDO:0003437
name: occult small cell lung carcinoma
def: "A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6683]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lung occult small cell carcinoma" RELATED [DOID:5414]
synonym: "occult small cell carcinoma of lung" EXACT [DOID:5414, NCIT:C6683]
synonym: "occult small cell carcinoma of the lung" EXACT [DOID:5414, NCIT:C6683]
synonym: "occult small cell lung carcinoma" EXACT [NCIT:C6683]
xref: DOID:5414 {source="MONDO:equivalentTo"}
xref: MEDGEN:233791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6683 {source="DOID:5414", source="MONDO:equivalentTo"}
xref: UMLS:C1335099 {source="MEDGEN:233791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008433 {source="DOID:5414", source="NCIT:C6683"} ! small cell lung carcinoma

[Term]
id: MONDO:0003438
name: combined small cell lung carcinoma
def: "A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma." [NCIT:C9137]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined small and large cell lung cancer" EXACT [NCIT:C9137]
synonym: "combined small and large cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "combined small cell and large cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "combined small cell carcinoma of lung" EXACT [NCIT:C9137]
synonym: "combined small cell carcinoma of the lung" EXACT [DOID:5421, NCIT:C9137]
synonym: "combined small cell lung cancer" EXACT [NCIT:C9137]
synonym: "combined small cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "combined type small cell carcinoma of lung" EXACT [DOID:5421, NCIT:C9137]
synonym: "combined type small cell carcinoma of the lung" EXACT [NCIT:C9137]
synonym: "combined type small cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "CSCLC" RELATED ABBREVIATION [ONCOTREE:CSCLC]
synonym: "lung combined type small cell carcinoma" RELATED [DOID:5421]
synonym: "mixed small cell and large cell carcinoma of lung" EXACT [NCIT:C9137]
synonym: "mixed small cell and large cell carcinoma of the lung" EXACT [NCIT:C9137]
synonym: "mixed small cell and large cell lung carcinoma" EXACT [NCIT:C9137]
synonym: "small cell and large cell carcinoma of lung" EXACT [NCIT:C9137]
synonym: "small cell and large cell carcinoma of the lung" EXACT [NCIT:C9137]
synonym: "small cell and large cell lung carcinoma" EXACT [NCIT:C9137]
xref: DOID:5421 {source="MONDO:equivalentTo"}
xref: ICDO:8045/3 {source="NCIT:C9137"}
xref: MEDGEN:234167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9137 {source="DOID:5421", source="MONDO:equivalentTo"}
xref: ONCOTREE:CSCLC {source="MONDO:equivalentTo"}
xref: UMLS:C1333125 {source="MEDGEN:234167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006167 {source="MONDO:Redundant", source="NCIT:C9137"} ! combined lung carcinoma
is_a: MONDO:0008433 {source="DOID:5421", source="MONDO:Redundant", source="NCIT:C9137"} ! small cell lung carcinoma
intersection_of: MONDO:0006167 {source="NCIT:C9137"} ! combined lung carcinoma
intersection_of: MONDO:0008433 {source="NCIT:C9137"} ! small cell lung carcinoma

[Term]
id: MONDO:0003439
name: urinary bladder villous adenoma
def: "An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma." [NCIT:P378]
synonym: "bladder villous adenoma" EXACT [NCIT:C7414]
synonym: "urinary bladder villous adenoma" EXACT [MONDO:patterns/location, NCIT:C7414]
synonym: "villous adenoma of the urinary bladder" EXACT [NCIT:C7414]
synonym: "villous adenoma of urinary bladder" EXACT [DOID:5427, NCIT:C7414]
xref: DOID:5427 {source="MONDO:equivalentTo"}
xref: MEDGEN:234977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7414 {source="DOID:5427", source="MONDO:equivalentTo"}
xref: UMLS:C1336893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234977"}
is_a: MONDO:0000502 {source="DOID:5427", source="MONDO:Redundant", source="NCIT:C7414"} ! villous adenoma
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C7414"} ! urinary bladder neoplasm
intersection_of: MONDO:0000502 ! villous adenoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0003440
name: obsolete bladder flat intraepithelial lesion
is_obsolete: true
replaced_by: MONDO:0006111

[Term]
id: MONDO:0003441
name: dystonic disorder
def: "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." [NCIT:C34563]
subset: otar {source="MONDO:OTAR"}
synonym: "dystonia" EXACT [MONDO:ambiguous]
synonym: "dystonia disorder" RELATED [MESH:D020821]
synonym: "dystonia disorders" RELATED [MESH:D020821]
synonym: "dystonic disease" EXACT [DOID:543]
synonym: "dystonic disorder" EXACT [MESH:D020821]
xref: DOID:543 {source="MONDO:equivalentTo"}
xref: HP:0001332 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G24 {source="MONDO:equivalentTo", source="DOID:543"}
xref: ICD10CM:G24.9 {source="DOID:543"}
xref: ICD9:333.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004421 {source="MONDO:phenotype", source="DOID:543"}
xref: MESH:D020821 {source="MONDO:equivalentTo", source="DOID:543"}
xref: NCIT:C34563 {source="MONDO:equivalentTo", source="DOID:543"}
xref: SCTID:15802004 {source="MONDO:equivalentTo", source="DOID:543"}
xref: SCTID:192863009 {source="DOID:543"}
xref: SCTID:194478005 {source="DOID:543"}
xref: SCTID:250068003 {source="DOID:543"}
xref: UMLS:C0013421 {source="MEDGEN:3940", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001815 {source="ICD10CM:G24", source="https://orcid.org/0000-0001-5208-3432"} ! extrapyramidal and movement disease
is_a: MONDO:0005395 {source="DOID:543", source="MESH:D020821", source="NCIT:C34563"} ! movement disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0003442
name: bladder papillary urothelial neoplasm
def: "A papillary epithelial neoplasm that involves the urinary bladder urothelium." [MONDO:patterns/location]
synonym: "bladder papillary transitional cell neoplasm" EXACT [NCIT:C39857]
synonym: "bladder papillary urothelial neoplasm" EXACT [NCIT:C39857]
synonym: "urinary bladder papillary transitional cell neoplasm" EXACT [NCIT:C39857]
synonym: "urinary bladder papillary urothelial neoplasm" EXACT [NCIT:C39857]
synonym: "urinary bladder urothelium papillary epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:5432 {source="MONDO:equivalentTo"}
xref: MEDGEN:267741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39857 {source="DOID:5432", source="MONDO:equivalentTo"}
xref: UMLS:C1511197 {source="MONDO:equivalentTo", source="MEDGEN:267741", source="MONDO:MEDGEN"}
is_a: MONDO:0003443 {source="DOID:5432", source="MONDO:Redundant", source="NCIT:C39857"} ! papillary urothelial neoplasm
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C39857"} ! urinary bladder neoplasm
intersection_of: MONDO:0021096 ! papillary epithelial neoplasm
intersection_of: disease_has_location UBERON:0004645 ! urinary bladder urothelium
relationship: disease_arises_from_structure CL:1001428 {source="NCIT:C39857"} ! bladder urothelial cell

[Term]
id: MONDO:0003443
name: papillary urothelial neoplasm
def: "A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003" [NCIT:C27883]
subset: otar {source="MONDO:OTAR"}
synonym: "inverted papilloma of urinary tract" RELATED [DOID:5433, NCIT:C6192]
synonym: "papillary transitional cell neoplasm of the urinary tract" EXACT [DOID:5433, NCIT:C27883]
synonym: "papillary urothelial neoplasm" EXACT [NCIT:C27883]
synonym: "urinary tract inverted papilloma" RELATED EXCLUDE [DOID:5433]
synonym: "urinary tract papillary transitional cell benign neoplasm" RELATED [DOID:5433]
synonym: "urinary tract papillary transitional cell neoplasm" EXACT [NCIT:C27883]
synonym: "urothelium papillary epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:5433 {source="MONDO:equivalentTo"}
xref: MEDGEN:233837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27883 {source="DOID:5433", source="MONDO:equivalentTo"}
xref: NCIT:C6192 {source="DOID:5433"}
xref: UMLS:C1335329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233837"}
is_a: MONDO:0021066 {source="MONDO:0003443/inferred", source="MONDO:Redundant", source="NCIT:C27883/inferred"} ! urinary system neoplasm
is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C27883"} ! papillary epithelial neoplasm
intersection_of: MONDO:0021096 ! papillary epithelial neoplasm
intersection_of: disease_has_location UBERON:0000365 ! urothelium
relationship: disease_arises_from_structure CL:0000731 ! urothelial cell

[Term]
id: MONDO:0003444
name: intrahepatic bile duct adenoma
def: "A rare adenoma that arises from the intrahepatic biliary tree." [NCIT:P378]
synonym: "adenoma of intrahepatic bile duct" RELATED [DOID:5437]
synonym: "adenoma of the intrahepatic bile duct" EXACT [DOID:5437, NCIT:C7126]
synonym: "adenoma, HEPATOCHOLANGIOCELLULAR, benign" EXACT [NCIT:C7126]
synonym: "intrahepatic bile duct adenoma" EXACT [MONDO:patterns/location]
xref: DOID:5437 {source="MONDO:equivalentTo"}
xref: MEDGEN:272250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7126 {source="MONDO:equivalentTo", source="DOID:5437"}
xref: UMLS:C1331535 {source="MEDGEN:272250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006108 {source="DOID:5437", source="MONDO:Redundant", source="NCIT:C7126"} ! bile duct adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0003704 ! intrahepatic bile duct

[Term]
id: MONDO:0003445
name: extrahepatic bile duct adenoma
def: "An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary." [NCIT:C5857]
synonym: "adenoma of extrahepatic bile duct" EXACT [DOID:5438, NCIT:C5857]
synonym: "adenoma of the extrahepatic bile duct" EXACT [DOID:5438, NCIT:C5857]
synonym: "extrahepatic bile duct adenoma" EXACT [MONDO:patterns/location, NCIT:C5857]
xref: DOID:5438 {source="MONDO:equivalentTo"}
xref: MEDGEN:233098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5857 {source="DOID:5438", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1331534 {source="MEDGEN:233098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006108 {source="DOID:5438", source="MONDO:Redundant", source="NCIT:C5857"} ! bile duct adenoma
is_a: MONDO:0021385 {source="MONDO:Redundant", source="NCIT:C5857"} ! extrahepatic bile duct neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0003446
name: papillary hidradenoma
def: "A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative." [NCIT:C4171]
subset: otar {source="MONDO:OTAR"}
synonym: "hidradenoma papilliferum" EXACT [NCIT:C4171]
xref: DOID:5439 {source="MONDO:equivalentTo"}
xref: ICDO:8405/0 {source="NCIT:C4171"}
xref: MEDGEN:87221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4171 {source="MONDO:equivalentTo", source="DOID:5439", source="MONDO:exact-label-match"}
xref: SCTID:134157002 {source="DOID:5439"}
xref: SCTID:307597000 {source="MONDO:equivalentTo", source="DOID:5439"}
xref: SCTID:89791006 {source="DOID:5439"}
xref: UMLS:C0334348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87221"}
is_a: MONDO:0002805 {source="DOID:5439"} ! hidradenoma

[Term]
id: MONDO:0003447
name: clear cell hidradenoma
def: "An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells." [NCIT:C7567]
synonym: "clear cell hidradenoma" EXACT [DOID:5443, NCIT:C7567]
synonym: "clear cell hidradenoma (morphologic abnormality)" EXACT [DOID:5443]
synonym: "clear cell myoepithelioma" EXACT [DOID:5443]
xref: DOID:5443 {source="MONDO:equivalentTo"}
xref: MEDGEN:234584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7567 {source="DOID:5443", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:254719003 {source="DOID:5443"}
xref: SCTID:400099008 {source="DOID:5443", source="MONDO:relatedTo"}
xref: SCTID:81143000 {source="DOID:5443"}
xref: UMLS:C1370701 {source="MEDGEN:234584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002805 {source="DOID:5443", source="NCIT:C7567"} ! hidradenoma
is_a: MONDO:0003426 {source="NCIT:C7567"} ! clear cell adenoma

[Term]
id: MONDO:0003448
name: benign spiradenoma
def: "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported." [NCIT:C4170]
comment: Spiradenomas are usually benign. Malignant forms are rare.
subset: otar {source="MONDO:OTAR"}
synonym: "benign eccrine spiradenoma" NARROW [DOID:5444, NCIT:C4170]
synonym: "eccrine spiradenoma" NARROW [NCIT:C4170]
synonym: "eccrine spiradenoma (morphologic abnormality)" NARROW [DOID:5444]
synonym: "eccrine spiradenoma of skin" NARROW [DOID:5444]
synonym: "spiradenoma" EXACT [NCIT:C4170]
synonym: "spiroma/spiradenoma" RELATED [ONCOTREE:SPIR]
xref: DOID:5444 {source="MONDO:equivalentTo"}
xref: ICDO:8403/0 {source="NCIT:C4170"}
xref: MEDGEN:90768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4170 {source="DOID:5444", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:SPIR {source="MONDO:equivalentTo"}
xref: SCTID:403938001 {source="DOID:5444", source="MONDO:equivalentTo"}
xref: SCTID:4977000 {source="DOID:5444"}
xref: UMLS:C0334347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90768"}
is_a: MONDO:0002531 {source="DOID:5444/inferred", source="NCIT:C4170/inferred", source="ONCOTREE:SPIR"} ! skin neoplasm
is_a: MONDO:0021489 {source="NCIT:C4170"} ! benign neoplasm of sweat gland
relationship: excluded_subClassOf MONDO:0003686 {source="DOID:5444", source="https://orcid.org/0000-0001-5208-3432"} ! apocrine sweat gland neoplasm

[Term]
id: MONDO:0003449
name: obsolete syringocystadenoma papilliferum
is_obsolete: true
replaced_by: MONDO:0006439

[Term]
id: MONDO:0003450
name: eccrine papillary adenoma
def: "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." [NCIT:P378]
synonym: "eccrine papillary adenoma of skin" EXACT [DOID:5446]
synonym: "Papillary eccrine adenoma" EXACT [NCIT:C4173]
xref: DOID:5446 {source="MONDO:equivalentTo"}
xref: ICDO:8408/0 {source="NCIT:C4173"}
xref: MEDGEN:137747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4173 {source="DOID:5446", source="MONDO:equivalentTo"}
xref: SCTID:10060008 {source="DOID:5446"}
xref: SCTID:134345002 {source="DOID:5446"}
xref: SCTID:189674003 {source="DOID:5446"}
xref: SCTID:253021007 {source="DOID:5446", source="MONDO:equivalentTo"}
xref: UMLS:C0334350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137747"}
is_a: MONDO:0002090 {source="DOID:5446", source="MONDO:Redundant"} ! eccrine sweat gland neoplasm
intersection_of: MONDO:0002533 ! papillary adenoma
intersection_of: disease_has_location UBERON:0000423 ! eccrine sweat gland
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10463/papillary-eccrine-adenoma" xsd:anyURI {source="GARD:0010463"}

[Term]
id: MONDO:0003451
name: obsolete laryngeal neuroendocrine tumor
is_obsolete: true
replaced_by: MONDO:0015070

[Term]
id: MONDO:0003452
name: cochlear disorder
def: "Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph)." [MESH:D015834]
synonym: "cochlea disease" EXACT [MONDO:patterns/location]
synonym: "cochlea disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of cochlea" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cochlea" EXACT []
synonym: "disorder of cochlea" EXACT [MONDO:patterns/location_top]
xref: DOID:5463 {source="MONDO:equivalentTo"}
xref: MEDGEN:1023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015834 {source="MONDO:equivalentTo", source="DOID:5463"}
xref: UMLS:C0009197 {source="MEDGEN:1023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001844 ! cochlea

[Term]
id: MONDO:0003453
name: conjunctival intraepithelial neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "conjunctiva intraepithelial neoplasia" EXACT [NCIT:C6120]
synonym: "conjunctival intraepithelial neoplasia" EXACT [NCIT:C6120]
synonym: "intraepithelial neoplasia of conjunctiva" EXACT [DOID:5465, NCIT:C6120]
synonym: "intraepithelial neoplasia of the conjunctiva" EXACT [NCIT:C6120]
xref: DOID:5465 {source="MONDO:equivalentTo"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:234172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6120 {source="DOID:5465", source="MONDO:equivalentTo"}
xref: SCTID:418134006 {source="DOID:5465", source="MONDO:equivalentTo"}
xref: UMLS:C1333148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234172"}
is_a: MONDO:0020204 {source="NCIT:C6120"} ! conjunctival tumor
is_a: MONDO:0024475 {source="MONDO:Redundant", source="NCIT:C6120"} ! squamous cell intraepithelial neoplasia
intersection_of: MONDO:0024475 ! squamous cell intraepithelial neoplasia
intersection_of: disease_arises_from_structure UBERON:0001811 ! conjunctiva
relationship: disease_arises_from_structure UBERON:0001811 {source="NCIT:C6120"} ! conjunctiva
relationship: excluded_subClassOf MONDO:0000611 {source="DOID:5465", source="https://orcid.org/0000-0001-5208-3432"} ! pre-malignant neoplasm

[Term]
id: MONDO:0003454
name: conjunctival cancer
def: "A malignant neoplasm involving the conjunctiva." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of conjunctiva" BROAD [MONDO:patterns/cancer]
synonym: "conjunctiva cancer" EXACT [MONDO:patterns/location]
synonym: "conjunctival tumor" BROAD [DOID:5467, NCIT:C2961]
synonym: "conjunctival tumour" BROAD OMO:0003005 []
synonym: "malignant conjunctiva neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3564]
synonym: "malignant conjunctiva tumor" EXACT [NCIT:C3564]
synonym: "malignant conjunctiva tumour" EXACT OMO:0003005 []
synonym: "malignant conjunctival neoplasm" EXACT [NCIT:C3564]
synonym: "malignant conjunctival tumor" EXACT [DOID:5467, NCIT:C3564]
synonym: "malignant conjunctival tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of conjunctiva" EXACT [DOID:5467, MONDO:patterns/cancer, NCIT:C3564]
synonym: "malignant neoplasm of conjunctiva (primary)" EXACT [DOID:5467]
synonym: "malignant neoplasm of the conjunctiva" EXACT [NCIT:C3564]
synonym: "malignant tumor of conjunctiva" EXACT [NCIT:C3564]
synonym: "malignant tumor of the conjunctiva" EXACT [NCIT:C3564]
synonym: "malignant tumour of conjunctiva" EXACT OMO:0003005 []
synonym: "malignant tumour of the conjunctiva" EXACT OMO:0003005 []
synonym: "neoplasm of conjunctiva" BROAD EXCLUDE [DOID:5467]
xref: DOID:5467 {source="MONDO:equivalentTo"}
xref: ICD10CM:C69.0 {source="DOID:5467"}
xref: ICD9:190.3 {source="DOID:5467", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003230 {source="DOID:5467"}
xref: NCIT:C2961 {source="DOID:5467"}
xref: NCIT:C3564 {source="DOID:5467", source="MONDO:equivalentTo"}
xref: SCTID:126996004 {source="DOID:5467"}
xref: SCTID:363463000 {source="DOID:5467", source="MONDO:equivalentTo"}
xref: SCTID:93764002 {source="DOID:5467"}
xref: UMLS:C0153628 {source="MEDGEN:56316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002236 {source="DOID:5467", source="MONDO:Redundant", source="NCIT:C3564"} ! ocular cancer
is_a: MONDO:0020204 {source="MONDO:Redundant", source="NCIT:C3564"} ! conjunctival tumor
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0003455
name: bile duct papillary neoplasm
def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bile duct papillary epithelial neoplasm" EXACT [MONDO:patterns/location]
synonym: "bile duct papillary neoplasm" EXACT [NCIT:C6881]
synonym: "bile duct papillomatosis" EXACT [NCIT:C6881]
synonym: "biliary papillomatosis" EXACT [DOID:5468, NCIT:C6881]
synonym: "intraductal papillary neoplasm" EXACT [NCIT:C6881]
synonym: "IPN" EXACT ABBREVIATION [NCIT:C6881]
xref: DOID:5468 {source="MONDO:equivalentTo"}
xref: ICDO:8503/0 {source="NCIT:C6881"}
xref: MEDGEN:360303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6881 {source="MONDO:equivalentTo"}
xref: SCTID:128663007 {source="DOID:5468"}
xref: UMLS:C1879344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:360303"}
is_a: MONDO:0002363 {source="DOID:5468", source="MONDO:Redundant"} ! papilloma
is_a: MONDO:0002887 {source="DOID:5468", source="MONDO:Redundant", source="NCIT:C6881/inferred"} ! bile duct disorder
is_a: MONDO:0005304 {source="DOID:5468", source="MONDO:Redundant", source="MONDO:indirect"} ! biliary tract neoplasm
is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C6881"} ! papillary epithelial neoplasm
is_a: MONDO:0021662 {source="MONDO:Redundant", source="NCIT:C6881"} ! bile duct neoplasm
intersection_of: MONDO:0021096 ! papillary epithelial neoplasm
intersection_of: disease_has_location UBERON:0002394 ! bile duct
relationship: disease_arises_from_structure UBERON:0004820 {source="NCIT:C6881"} ! bile duct epithelium

[Term]
id: MONDO:0003456
name: obsolete bile duct mucinous cystic neoplasm
comment: See Bile Duct Cystadenoma
xref: DOID:5469 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C37215 {source="DOID:5469"}
is_obsolete: true

[Term]
id: MONDO:0003457
name: obsolete ovarian serous adenofibroma
is_obsolete: true
replaced_by: MONDO:0006340

[Term]
id: MONDO:0003458
name: uterine corpus adenofibroma
def: "A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core." [NCIT:C6337]
synonym: "adenofibroma of body of uterus" EXACT [NCIT:C6337]
synonym: "adenofibroma of corpus uteri" EXACT [DOID:5475, NCIT:C6337]
synonym: "adenofibroma of the body of uterus" EXACT [NCIT:C6337]
synonym: "adenofibroma of the corpus uteri" EXACT [NCIT:C6337]
synonym: "adenofibroma of the uterine body" EXACT [NCIT:C6337]
synonym: "adenofibroma of the uterine corpus" EXACT [NCIT:C6337]
synonym: "adenofibroma of uterine body" EXACT [NCIT:C6337]
synonym: "adenofibroma of uterine corpus" RELATED [DOID:5475]
synonym: "body of uterus adenofibroma" EXACT [MONDO:patterns/location]
synonym: "corpus uteri adenofibroma" EXACT [NCIT:C6337]
synonym: "uterine body adenofibroma" EXACT [NCIT:C6337]
xref: DOID:5475 {source="MONDO:equivalentTo"}
xref: MEDGEN:277849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6337 {source="DOID:5475", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336901 {source="MEDGEN:277849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006071 {source="DOID:5475", source="MONDO:Redundant", source="NCIT:C6337"} ! adenofibroma
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C6337/inferred"} ! benign neoplasm of corpus uteri
intersection_of: MONDO:0006071 ! adenofibroma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0003459
name: cervical adenofibroma
def: "A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements." [NCIT:C40230]
xref: DOID:5476 {source="MONDO:equivalentTo"}
xref: MEDGEN:308942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40230 {source="DOID:5476", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1516402 {source="MEDGEN:308942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000644 {source="DOID:5476", source="NCIT:C40230/inferred"} ! cervical benign neoplasm

[Term]
id: MONDO:0003460
name: clear cell adenofibroma
def: "A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma." [NCIT:C8987]
synonym: "clear cell adenofibroma" EXACT [DOID:5477, NCIT:C8987]
synonym: "clear cell adenofibroma (morphologic abnormality)" EXACT [DOID:5477]
xref: DOID:5477 {source="MONDO:equivalentTo"}
xref: ICDO:8313/0 {source="NCIT:C8987"}
xref: MEDGEN:90762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D062625 {source="DOID:5477", source="MONDO:directSiblingOf"}
xref: NCIT:C8985 {source="DOID:5477", source="MONDO:directSiblingOf"}
xref: NCIT:C8987 {source="DOID:5477", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:2962009 {source="DOID:5477"}
xref: SCTID:58161009 {source="DOID:5477"}
xref: UMLS:C0334317 {source="MEDGEN:90762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006071 {source="DOID:5477", source="NCIT:C8987"} ! adenofibroma

[Term]
id: MONDO:0003461
name: fallopian tube serous adenofibroma
def: "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium." [NCIT:C40113]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube adenofibroma" EXACT [MONDO:patterns/location, NCIT:C40113]
synonym: "fallopian tube serous adenofibroma" EXACT [MONDO:patterns/location, NCIT:C40113]
synonym: "serous adenofibroma of fallopian tube" EXACT [MONDO:design_pattern]
xref: DOID:5478 {source="MONDO:equivalentTo"}
xref: MEDGEN:309125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40113 {source="DOID:5478", source="MONDO:equivalentTo"}
xref: UMLS:C1517109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309125"}
is_a: MONDO:0000645 {source="DOID:5478", source="MONDO:Redundant", source="NCIT:C40113"} ! fallopian tube benign neoplasm
is_a: MONDO:0006071 {source="DOID:5478", source="MONDO:0003461/inferred", source="MONDO:Entailed", source="NCIT:C40113/inferred"} ! adenofibroma
is_a: MONDO:0024886 {source="MONDO:Redundant", source="NCIT:C40113"} ! serous adenofibroma
intersection_of: MONDO:0024886 ! serous adenofibroma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003462
name: papillary adenofibroma
def: "A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma." [NCIT:C8986]
synonym: "papillary adenofibroma" EXACT [DOID:5479]
xref: DOID:5479 {source="MONDO:equivalentTo"}
xref: MEDGEN:237177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8986 {source="DOID:5479", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:2962009 {source="DOID:5479"}
xref: UMLS:C1377850 {source="MEDGEN:237177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006071 {source="DOID:5479", source="NCIT:C8986"} ! adenofibroma

[Term]
id: MONDO:0003463
name: ovarian endometrioid adenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma." [NCIT:C27287]
synonym: "ovarian endometrioid adenofibroma" EXACT [NCIT:C27287]
xref: DOID:5480 {source="MONDO:equivalentTo"}
xref: ICDO:8380/0 {source="NCIT:C27287"}
xref: ICDO:8381/0 {source="NCIT:C27287"}
xref: MEDGEN:389179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27287 {source="MONDO:equivalentTo", source="DOID:5480", source="MONDO:exact-label-match"}
xref: UMLS:C2212024 {source="MEDGEN:389179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000646 {source="DOID:5480", source="NCIT:C27287/inferred"} ! ovarian benign neoplasm

[Term]
id: MONDO:0003464
name: cystadenofibroma
def: "A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue." [NCIT:C8985]
synonym: "cystadenofibroma" EXACT [NCIT:C8985]
synonym: "cystadenofibroma, NOS" RELATED EXCLUDE [DOID:5482]
xref: DOID:5482 {source="MONDO:equivalentTo"}
xref: MESH:D062625 {source="MONDO:equivalentTo", source="DOID:5482"}
xref: NCIT:C8985 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5482"}
xref: NCIT:C8987 {source="DOID:5482", source="MONDO:directSiblingOf"}
xref: SCTID:2962009 {source="DOID:5482"}
xref: SCTID:58161009 {source="DOID:5482"}
is_a: MONDO:0006071 {source="DOID:5482", source="MESH:D062625", source="NCIT:C8985"} ! adenofibroma

[Term]
id: MONDO:0003465
name: fibrous synovial sarcoma
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibrous sarcoma of synovium" EXACT [DOID:5484, NCIT:C6533]
synonym: "fibrous sarcoma of the synovium" EXACT [NCIT:C6533]
xref: DOID:5484 {source="MONDO:equivalentTo"}
xref: MEDGEN:234267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6533 {source="MONDO:equivalentTo", source="DOID:5484"}
xref: UMLS:C1333616 {source="MEDGEN:234267", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010434 {source="DOID:5484"} ! synovial sarcoma

[Term]
id: MONDO:0003466
name: spindle cell synovial sarcoma
def: "A synovial sarcoma characterized by the presence of a spindle cell component only." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "synovial sarcoma with spindle cell components" EXACT [DOID:5487, NCIT:C4277]
synonym: "synovial sarcoma, monophasic fibrous" EXACT [DOID:5487]
xref: DOID:5487 {source="MONDO:equivalentTo"}
xref: ICDO:9041/3 {source="NCIT:C4277"}
xref: MEDGEN:90795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4277 {source="DOID:5487", source="MONDO:equivalentTo"}
xref: SCTID:37206003 {source="DOID:5487"}
xref: UMLS:C0334505 {source="MEDGEN:90795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005067 {source="NCIT:C4277"} ! monophasic synovial sarcoma
is_a: MONDO:0010434 {source="DOID:5487", source="MONDO:Redundant", source="NCIT:C4277/inferred"} ! synovial sarcoma
intersection_of: MONDO:0010434 ! synovial sarcoma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell

[Term]
id: MONDO:0003467
name: mediastinum synovial sarcoma
def: "A synovial sarcoma arising from the mediastinum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinal synovial sarcoma" EXACT [NCIT:C6618]
synonym: "mediastinum synovial sarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "synovial sarcoma of mediastinum" EXACT [DOID:5488, NCIT:C6618]
synonym: "synovial sarcoma of the mediastinum" EXACT [NCIT:C6618]
xref: DOID:5488 {source="MONDO:equivalentTo"}
xref: MEDGEN:233174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6618 {source="DOID:5488", source="MONDO:equivalentTo"}
xref: UMLS:C1334681 {source="MEDGEN:233174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002852 {source="DOID:5488", source="MONDO:Redundant", source="NCIT:C6618"} ! mediastinum sarcoma
is_a: MONDO:0010434 {source="DOID:5488", source="MONDO:Redundant", source="NCIT:C6618"} ! synovial sarcoma
intersection_of: MONDO:0010434 ! synovial sarcoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0003468
name: biphasic synovial sarcoma
def: "A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "biphasic sarcoma of synovium" EXACT [DOID:5492, NCIT:C4279]
synonym: "biphasic sarcoma of the synovium" EXACT [NCIT:C4279]
synonym: "synovial sarcoma, biphasic" EXACT [DOID:5492]
synonym: "synovial sarcoma, biphasic (morphologic abnormality)" EXACT [DOID:5492]
xref: DOID:5492 {source="MONDO:equivalentTo"}
xref: ICDO:9043/3 {source="NCIT:C4279"}
xref: MEDGEN:137773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4279 {source="MONDO:equivalentTo", source="DOID:5492"}
xref: SCTID:18588008 {source="DOID:5492"}
xref: UMLS:C0334507 {source="MEDGEN:137773", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010434 {source="DOID:5492", source="NCIT:C4279"} ! synovial sarcoma

[Term]
id: MONDO:0003469
name: epithelioid cell synovial sarcoma
def: "A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epithelial sarcoma of synovium" EXACT [NCIT:C4278]
synonym: "epithelial sarcoma of the synovium" EXACT [NCIT:C4278]
synonym: "epithelial synovial sarcoma" EXACT [NCIT:C4278]
synonym: "epithelioid cell sarcoma of synovium" EXACT [NCIT:C4278]
synonym: "epithelioid cell sarcoma of the synovium" EXACT [NCIT:C4278]
synonym: "epithelioid synovial sarcoma" EXACT [DOID:5494, NCIT:C4278]
synonym: "synovial sarcoma, epithelioid cell" EXACT [DOID:5494]
synonym: "synovial sarcoma, epithelioid cell (morphologic abnormality)" EXACT [DOID:5494]
xref: DOID:5494 {source="MONDO:equivalentTo"}
xref: ICDO:9042/3 {source="NCIT:C4278"}
xref: MEDGEN:90796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4278 {source="MONDO:equivalentTo", source="DOID:5494"}
xref: SCTID:56422000 {source="DOID:5494"}
xref: UMLS:C0334506 {source="MONDO:equivalentTo", source="MEDGEN:90796", source="MONDO:MEDGEN"}
is_a: MONDO:0005067 {source="NCIT:C4278"} ! monophasic synovial sarcoma
is_a: MONDO:0010434 {source="DOID:5494", source="MONDO:Redundant", source="NCIT:C4278/inferred"} ! synovial sarcoma

[Term]
id: MONDO:0003470
name: cellular ependymoma
def: "An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)" [NCIT:C4713]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:5500 {source="MONDO:equivalentTo"}
xref: MEDGEN:235137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004806 {source="DOID:5500"}
xref: NCIT:C4713 {source="DOID:5500", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NCIT:C4714 {source="DOID:5500", source="MONDO:directSiblingOf"}
xref: SCTID:253067007 {source="DOID:5500"}
xref: SCTID:253068002 {source="DOID:5500"}
xref: SCTID:57706008 {source="DOID:5500"}
xref: UMLS:C1384403 {source="MONDO:equivalentTo", source="MEDGEN:235137", source="MONDO:MEDGEN"}
is_a: MONDO:0016698 {source="NCIT:C4713"} ! ependymoma

[Term]
id: MONDO:0003471
name: Pediculus humanus capitis infestation
def: "A infectious disease involving Pediculus humanus capitis." [MONDO:patterns/infectious_disease_by_agent]
synonym: "head louse infestation" EXACT [DOID:5501]
synonym: "infections, Pediculus humanus capitis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "pediculosis capitis" EXACT [DOID:5501]
synonym: "Pediculus capitis" EXACT [DOID:5501]
synonym: "Pediculus capitis [head louse]" EXACT [DOID:5501, ICD9CM:132.0]
synonym: "Pediculus capitis infestation" EXACT [DOID:5501]
synonym: "Pediculus humanus capitis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:5501 {source="MONDO:equivalentTo"}
xref: ICD10CM:B85.0 {source="DOID:5501"}
xref: ICD9:132.0 {source="DOID:5501", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:243682006 {source="DOID:5501"}
xref: SCTID:271544006 {source="DOID:5501"}
xref: SCTID:81000006 {source="DOID:5501", source="MONDO:equivalentTo"}
xref: UMLS:C0030757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508022"}
is_a: MONDO:0003472 {source="DOID:5501", source="MONDO:Entailed", source="MONDO:Redundant"} ! lice infestation
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:121226 ! Pediculus humanus capitis

[Term]
id: MONDO:0003472
name: lice infestation
def: "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash." [NCIT:C128401]
subset: otar {source="MONDO:OTAR"}
synonym: "infections, Pediculus humanus" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "infestation by Pediculus" EXACT [DOID:5502]
synonym: "lice infestation, NOS" RELATED EXCLUDE [DOID:5502]
synonym: "louse infestation" EXACT [DOID:5502]
synonym: "louse infestation (& [pediculosis and Phthirus] or [lice])" EXACT [DOID:5502]
synonym: "mixed pediculosis" EXACT [DOID:5502]
synonym: "mixed pediculosis infestation" EXACT [DOID:5502, ICD9CM:132.3]
synonym: "pediculosis" EXACT [DOID:5502]
synonym: "pediculosis + lice" EXACT [DOID:5502]
synonym: "pediculosis + lice NOS" RELATED EXCLUDE [DOID:5502]
synonym: "pediculosis and Phthirus infection" EXACT [DOID:5502]
synonym: "pediculosis and Phthirus infections" EXACT [DOID:5502]
synonym: "pediculosis and Phthirus infestation" EXACT [DOID:5502, ICD9CM:132]
synonym: "pediculosis, unspecified" EXACT [DOID:5502, ICD9CM:132.9]
synonym: "Pediculus humanus infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:5502 {source="MONDO:equivalentTo"}
xref: ICD10CM:B85.2 {source="DOID:5502", source="MONDO:equivalentTo"}
xref: ICD9:132.9 {source="DOID:5502"}
xref: MEDGEN:18339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010373 {source="DOID:5502", source="MONDO:equivalentTo"}
xref: NCIT:C128401 {source="MONDO:equivalentTo"}
xref: SCTID:154417001 {source="DOID:5502"}
xref: SCTID:187207005 {source="DOID:5502"}
xref: SCTID:187212006 {source="DOID:5502"}
xref: SCTID:187545007 {source="DOID:5502"}
xref: SCTID:20848007 {source="DOID:5502"}
xref: SCTID:266223008 {source="DOID:5502"}
xref: SCTID:414618002 {source="DOID:5502"}
xref: SCTID:74949007 {source="DOID:5502"}
xref: UMLS:C0030756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18339"}
is_a: MONDO:0002875 {source="DOID:5502", source="MESH:D010373"} ! parasitic ectoparasitic infectious disease
is_a: MONDO:0005135 {source="DOID:5502/inferred", source="MESH:D010373/inferred", source="MONDO:Redundant", source="NCIT:C128401"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:121225 ! Pediculus humanus

[Term]
id: MONDO:0003473
name: spinal cord ependymoma
alt_id: MONDO:0021544
def: "An ependymoma that arises from the spinal cord." [NCIT:C3875]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ependymal neoplasm of the spinal cord" EXACT [DOID:5503, NCIT:C3875]
synonym: "ependymoma of spinal cord" EXACT [NCIT:C3875]
synonym: "ependymoma of the spinal cord" EXACT [NCIT:C3875]
synonym: "spinal cord ependymoma" EXACT [MONDO:patterns/location, NCIT:C3875]
xref: DOID:5503 {source="MONDO:equivalentTo"}
xref: MEDGEN:65968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3875 {source="MONDO:equivalentTo", source="DOID:5503"}
xref: SCTID:254949006 {source="MONDO:equivalentTo", source="DOID:5503"}
xref: UMLS:C0238432 {source="MEDGEN:65968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002542 {source="DOID:5503", source="MONDO:Redundant", source="NCIT:C3875/inferred"} ! spinal cord glioma
is_a: MONDO:0016698 {source="MONDO:Redundant", source="NCIT:C3875"} ! ependymoma
is_a: MONDO:0021546 {source="MONDO:Redundant", source="NCIT:C3875"} ! ependymal tumor of spinal cord
intersection_of: MONDO:0016698 ! ependymoma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0003474
name: tanycytic ependymoma
def: "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)" [NCIT:C6903]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tanycytic ependymoma" EXACT [NCIT:C6903]
xref: DOID:5504 {source="MONDO:equivalentTo"}
xref: MEDGEN:237159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6903 {source="DOID:5504", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:397378002 {source="DOID:5504"}
xref: SCTID:57706008 {source="DOID:5504"}
xref: UMLS:C1370500 {source="MEDGEN:237159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016698 {source="NCIT:C6903"} ! ependymoma

[Term]
id: MONDO:0003475
name: papillary ependymoma
def: "A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)" [NCIT:C4319]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "papillary ependymoma" EXACT [NCIT:C4319]
xref: DOID:5505 {source="MONDO:equivalentTo"}
xref: ICDO:9393/3 {source="NCIT:C4319"}
xref: MEDGEN:90810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004806 {source="DOID:5505"}
xref: NCIT:C4319 {source="MONDO:equivalentTo", source="DOID:5505", source="MONDO:exact-label-match"}
xref: SCTID:112686007 {source="DOID:5505"}
xref: SCTID:128839002 {source="DOID:5505"}
xref: UMLS:C0334578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90810"}
is_a: MONDO:0016698 {source="NCIT:C4319"} ! ependymoma

[Term]
id: MONDO:0003476
name: clear cell ependymoma
def: "An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo." [NCIT:C4714]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "clear cell ependymoma" EXACT [NCIT:C4714]
xref: DOID:5507 {source="MONDO:equivalentTo"}
xref: NCIT:C4714 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:CCE {source="MONDO:equivalentTo"}
is_a: MONDO:0016698 {source="MONDO:Redundant", source="NCIT:C4714"} ! ependymoma
relationship: excluded_subClassOf MONDO:0003161 {source="DOID:5507", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete benign ependymoma

[Term]
id: MONDO:0003477
name: brain stem ependymoma
def: "An ependymoma that arises from the brain stem." [NCIT:C5098]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain stem ependymoma" EXACT [NCIT:C5098]
synonym: "brainstem ependymoma" EXACT [MONDO:patterns/location, NCIT:C5098]
synonym: "ependymoma of brain stem" EXACT [NCIT:C5098]
synonym: "ependymoma of brainstem" EXACT [NCIT:C5098]
synonym: "ependymoma of the brain stem" EXACT [NCIT:C5098]
synonym: "ependymoma of the brainstem" EXACT [DOID:5508, NCIT:C5098]
xref: DOID:5508 {source="MONDO:equivalentTo"}
xref: MEDGEN:231459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5098 {source="MONDO:equivalentTo", source="DOID:5508", source="MONDO:exact-label-match"}
xref: SCTID:107561000119107 {source="DOID:5508"}
xref: UMLS:C1332609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231459"}
is_a: MONDO:0002911 {source="DOID:5508", source="MONDO:Redundant", source="NCIT:C5098"} ! brain stem glioma
is_a: MONDO:0004245 {source="MONDO:Redundant", source="NCIT:C5098"} ! ependymal tumor of brain
is_a: MONDO:0016698 {source="MONDO:Redundant", source="NCIT:C5098"} ! ependymoma
intersection_of: MONDO:0016698 ! ependymoma
intersection_of: disease_has_location UBERON:0002298 ! brainstem

[Term]
id: MONDO:0003478
name: childhood ependymoma
def: "An ependymoma that arises from the central nervous system and occurs during childhood." [NCIT:C8578]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood ependymoma" EXACT [DOID:5509, NCIT:C8578]
synonym: "ependymoma" BROAD [NCIT:C8578]
synonym: "ependymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric ependymoma" EXACT OMO:0003005 []
synonym: "pediatric ependymoma" EXACT [MONDO:patterns/childhood, NCIT:C8578]
xref: DOID:5509 {source="MONDO:equivalentTo"}
xref: MEDGEN:343609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531673 {source="MONDO:equivalentTo"}
xref: NCIT:C8578 {source="MONDO:equivalentTo", source="DOID:5509"}
xref: UMLS:C1851584 {source="MEDGEN:343609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016698 {source="MESH:C531673", source="MONDO:Redundant", source="NCIT:C8578"} ! ependymoma
intersection_of: MONDO:0016698 ! ependymoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003479
name: toxic pneumonitis
def: "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gasses and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects." [DOID:551, http://hazmap.nlm.nih.gov/cgi-bin/hazmap_generic?tbl=TblDiseases&id=306]
synonym: "acute chemical fume pulmonary edema" EXACT [DOID:551]
synonym: "acute chemical fume pulmonary oedema" EXACT OMO:0003005 []
synonym: "acute chemical pulmonary edema" EXACT [DOID:551]
synonym: "acute chemical pulmonary oedema" EXACT OMO:0003005 []
xref: DOID:551 {source="MONDO:equivalentTo"}
xref: ICD9:506.9 {source="DOID:551"}
xref: MEDGEN:811389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:233733000 {source="MONDO:equivalentTo"}
xref: UMLS:C3714582 {source="MEDGEN:811389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0043905 {source="https://orcid.org/0000-0001-5208-3432"} ! pneumonitis
relationship: excluded_subClassOf MONDO:0005249 {source="DOID:551", source="https://orcid.org/0000-0001-5208-3432"} ! pneumonia

[Term]
id: MONDO:0003480
name: pineal region dysgerminoma
def: "A dysgerminoma (disease) that involves the pineal body." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pineal body dysgerminoma (disease)" EXACT [MONDO:patterns/location]
synonym: "pineal dysgerminoma" EXACT [NCIT:C7169]
synonym: "pineal region dysgerminoma" EXACT [NCIT:C7169]
xref: DOID:5510 {source="MONDO:equivalentTo"}
xref: MEDGEN:233328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7169 {source="DOID:5510", source="MONDO:equivalentTo"}
xref: UMLS:C1335415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233328"}
intersection_of: MONDO:0003002 ! dysgerminoma
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0003481
name: dysgerminoma of ovary
def: "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." [NCIT:C8106]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysgerminoma" RELATED [ONCOTREE:ODYS]
synonym: "dysgerminoma of ovary" EXACT [NCIT:C8106]
synonym: "dysgerminoma of the ovary" EXACT [NCIT:C8106]
synonym: "germ cell dysgerminoma of ovary" EXACT [NCIT:C8106]
synonym: "germ cell dysgerminoma of the ovary" EXACT [NCIT:C8106]
synonym: "ovarian dysgerminoma" EXACT [DOID:5511, MONDO:0006333, NCIT:C8106]
synonym: "ovarian germ cell dysgerminoma" EXACT [NCIT:C8106]
synonym: "ovary dysgerminoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5511 {source="MONDO:equivalentTo"}
xref: EFO:1000414 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8106 {source="DOID:5511", source="MONDO:equivalentTo", source="EFO:1000414"}
xref: ONCOTREE:ODYS {source="MONDO:equivalentTo"}
xref: SCTID:254874008 {source="DOID:5511", source="MONDO:equivalentTo"}
xref: UMLS:C0346185 {source="MEDGEN:83414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003002 {source="DOID:5511", source="MONDO:Redundant", source="NCIT:C8106"} ! dysgerminoma
is_a: MONDO:0003408 {source="NCIT:C8106"} ! ovarian primitive germ cell tumor
is_a: MONDO:0005040 {source="DOID:5511/inferred", source="EFO:1000414", source="MONDO:Redundant", source="NCIT:C8106/inferred"} ! germ cell tumor
intersection_of: MONDO:0003002 ! dysgerminoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003482
name: Pediculus humanus corporis infestation
def: "A infectious disease involving the Pediculus humanus corporis." [MONDO:patterns/infectious_disease_by_agent]
synonym: "body louse infestation" EXACT [DOID:5513]
synonym: "infections, Pediculus humanus corporis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Pediculus corporis" EXACT [DOID:5513]
synonym: "Pediculus corporis [body louse]" EXACT [DOID:5513, ICD9CM:132.1]
synonym: "Pediculus humanus corporis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Pediculus humanus infestation" EXACT [DOID:5513]
xref: DOID:5513 {source="MONDO:equivalentTo"}
xref: ICD10CM:B85.1 {source="DOID:5513"}
xref: ICD9:132.1 {source="DOID:5513", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:25188002 {source="DOID:5513", source="MONDO:equivalentTo"}
xref: UMLS:C0030758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508023"}
is_a: MONDO:0003472 {source="DOID:5513", source="MONDO:Entailed", source="MONDO:Redundant"} ! lice infestation
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:121224 ! Pediculus humanus corporis

[Term]
id: MONDO:0003483
name: obsolete gastric squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006230

[Term]
id: MONDO:0003484
name: obsolete penis squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0018352

[Term]
id: MONDO:0003485
name: obsolete colon squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0018513

[Term]
id: MONDO:0003486
name: basaloid squamous cell carcinoma
def: "A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." [NCIT:C54244]
subset: otar {source="MONDO:OTAR"}
synonym: "basaloid carcinoma" BROAD [DOID:5522, NCIT:C4121]
synonym: "basaloid carcinoma (morphologic abnormality)" BROAD [DOID:5522]
synonym: "basaloid squamous cell carcinoma" EXACT [NCIT:C54244]
synonym: "basaloid squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:5522]
xref: DOID:5522 {source="MONDO:equivalentTo"}
xref: EFO:1001940 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8083/3 {source="NCIT:C54244"}
xref: MEDGEN:266085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54244 {source="DOID:5522", source="MONDO:equivalentTo"}
xref: SCTID:128634009 {source="DOID:5522"}
xref: UMLS:C1266005 {source="MEDGEN:266085", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:5522", source="NCIT:C54244"} ! squamous cell carcinoma
is_a: MONDO:0006102 {source="NCIT:C54244"} ! basaloid carcinoma

[Term]
id: MONDO:0003487
name: pseudoglandular squamous cell carcinoma
def: "A squamous cell carcinoma characterized by the formation of gland-like structures." [NCIT:P378]
synonym: "acantholytic squamous cell carcinoma" RELATED [DOID:5524]
synonym: "adenoacanthoma" RELATED [DOID:5524]
synonym: "adenocarcinoma with squamous metaplasia" RELATED [DOID:5524]
synonym: "adenocarcinoma with squamous metaplasia (morphologic abnormality)" RELATED [DOID:5524]
synonym: "adenoid squamous carcinoma" EXACT [NCIT:C4106]
synonym: "adenoid squamous cell carcinoma" EXACT [NCIT:C4106]
synonym: "adenoid squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:5524]
synonym: "pharyngeal tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "pseudoglandular epidermoid carcinoma" EXACT [NCIT:C4106]
synonym: "pseudoglandular epidermoid cell carcinoma" EXACT [NCIT:C4106]
synonym: "pseudoglandular squamous carcinoma" EXACT [DOID:5524, NCIT:C4106]
synonym: "pseudoglandular squamous cell carcinoma" EXACT [NCIT:C4106]
xref: DOID:5524 {source="MONDO:equivalentTo"}
xref: ICDO:8075/3 {source="NCIT:C4106"}
xref: MEDGEN:1731648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4106 {source="DOID:5524", source="MONDO:equivalentTo"}
xref: NCIT:C4200 {source="DOID:5524"}
xref: SCTID:15176003 {source="DOID:5524"}
xref: SCTID:403901001 {source="DOID:5524", source="MONDO:equivalentTo"}
xref: SCTID:85956000 {source="DOID:5524"}
xref: UMLS:C5400033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1731648"}
is_a: MONDO:0005096 {source="DOID:5524/inferred", source="MONDO:Redundant", source="NCIT:C4106"} ! squamous cell carcinoma
relationship: excluded_subClassOf MONDO:0000535 {source="DOID:5524", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete tonsil squamous cell carcinoma

[Term]
id: MONDO:0003488
name: obsolete anal squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006082

[Term]
id: MONDO:0003489
name: obsolete middle ear squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006303

[Term]
id: MONDO:0003490
name: ampulla of vater squamous cell carcinoma
def: "A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C27417]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ampulla of Vater squamous cell carcinoma" EXACT [NCIT:C27417]
synonym: "hepatopancreatic ampulla squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5527 {source="MONDO:equivalentTo"}
xref: MEDGEN:272304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27417 {source="MONDO:equivalentTo", source="DOID:5527", source="MONDO:exact-label-match"}
xref: UMLS:C1332251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272304"}
is_a: MONDO:0005096 {source="DOID:5527/inferred", source="MONDO:Redundant", source="NCIT:C27417"} ! squamous cell carcinoma
is_a: MONDO:0017590 {source="DOID:5527", source="MONDO:Redundant", source="NCIT:C27417"} ! carcinoma of the ampulla of vater
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla

[Term]
id: MONDO:0003491
name: obsolete rectum squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0018515

[Term]
id: MONDO:0003492
name: lacrimal gland squamous cell carcinoma
def: "A squamous cell carcinoma that involves the lacrimal gland." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epidermoid carcinoma of lacrimal gland" EXACT [NCIT:C6092]
synonym: "epidermoid carcinoma of the lacrimal gland" EXACT [DOID:5529, NCIT:C6092]
synonym: "lacrimal gland epidermoid carcinoma" EXACT [NCIT:C6092]
synonym: "lacrimal gland squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6092]
synonym: "squamous cell carcinoma of lacrimal gland" EXACT [DOID:5529, NCIT:C6092]
synonym: "squamous cell carcinoma of the lacrimal gland" EXACT [NCIT:C6092]
xref: DOID:5529 {source="MONDO:equivalentTo"}
xref: MEDGEN:233607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6092 {source="MONDO:equivalentTo", source="DOID:5529", source="MONDO:exact-label-match"}
xref: UMLS:C1334360 {source="MEDGEN:233607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002463 {source="DOID:5529", source="MONDO:Redundant", source="NCIT:C6092"} ! lacrimal gland carcinoma
is_a: MONDO:0005096 {source="DOID:5529", source="MONDO:Redundant", source="NCIT:C6092"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0003493
name: thymus squamous cell carcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." [NCIT:C6455]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid thymic carcinoma" EXACT [DOID:5530, NCIT:C6455]
synonym: "squamous cell carcinoma of the Thymus" EXACT [NCIT:C6455]
synonym: "squamous cell carcinoma of Thymus" EXACT [NCIT:C6455]
synonym: "thymic squamous cell carcinoma" EXACT [MONDO:0006454, NCIT:C6455]
synonym: "Thymus squamous cell carcinoma" EXACT [NCIT:C6455]
synonym: "thymus squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5530 {source="MONDO:equivalentTo"}
xref: EFO:1000579 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6455 {source="DOID:5530", source="MONDO:equivalentTo", source="EFO:1000579"}
xref: UMLS:C1336082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234814"}
is_a: MONDO:0005096 {source="DOID:5530", source="EFO:1000579", source="MONDO:Redundant", source="NCIT:C6455"} ! squamous cell carcinoma
is_a: MONDO:0006451 {source="DOID:5530", source="MONDO:Redundant", source="NCIT:C6455"} ! thymic carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0003494
name: ovarian squamous cell carcinoma
def: "A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor." [NCIT:C40093]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovarian squamous cell cancer" EXACT [NCIT:C40093]
synonym: "ovarian squamous cell carcinoma" EXACT [MONDO:0006342, NCIT:C40093]
synonym: "ovary squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5531 {source="MONDO:equivalentTo"}
xref: EFO:1000432 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:384474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40093 {source="DOID:5531", source="EFO:1000432", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C2019443 {source="MEDGEN:384474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="EFO:1000432", source="MONDO:Redundant", source="NCIT:C40093"} ! squamous cell carcinoma
is_a: MONDO:0005140 {source="DOID:5531", source="EFO:1000432", source="MONDO:Entailed", source="NCIT:C40093"} ! ovarian carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003495
name: ovarian squamous cell neoplasm
def: "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor." [NCIT:C40092]
synonym: "ovarian squamous cell neoplasm" EXACT [NCIT:C40092]
synonym: "ovarian squamous cell tumor" EXACT [NCIT:C40092]
synonym: "ovarian squamous cell tumour" EXACT OMO:0003005 []
synonym: "ovary squamous cell neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:5532 {source="MONDO:equivalentObsolete"}
xref: NCIT:C40092 {source="DOID:5532", source="MONDO:equivalentObsolete"}
is_a: MONDO:0002229 {source="DOID:5532", source="MONDO:Redundant", source="NCIT:C40092"} ! ovarian epithelial tumor
is_a: MONDO:0002532 {source="MONDO:Redundant", source="NCIT:C40092"} ! squamous cell neoplasm
intersection_of: MONDO:0002532 ! squamous cell neoplasm
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003496
name: obsolete endometrial squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006198

[Term]
id: MONDO:0003497
name: renal pelvis squamous cell carcinoma
def: "A squamous cell carcinoma that involves the renal pelvis." [MONDO:patterns/location]
synonym: "epidermoid carcinoma of kidney pelvis" EXACT [NCIT:C7732]
synonym: "epidermoid carcinoma of renal pelvis" EXACT [NCIT:C7732]
synonym: "epidermoid carcinoma of the kidney pelvis" EXACT [DOID:5534, NCIT:C7732]
synonym: "epidermoid carcinoma of the renal pelvis" EXACT [NCIT:C7732]
synonym: "kidney pelvis epidermoid carcinoma" EXACT [NCIT:C7732]
synonym: "kidney pelvis squamous cell carcinoma" EXACT [NCIT:C7732]
synonym: "kidney renal pelvis squamous cell cancer" EXACT [NCIT:C7732]
synonym: "renal pelvis epidermoid carcinoma" EXACT [NCIT:C7732]
synonym: "renal pelvis squamous cell cancer" EXACT [NCIT:C7732]
synonym: "renal pelvis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7732]
synonym: "squamous cell carcinoma of kidney pelvis" EXACT [NCIT:C7732]
synonym: "squamous cell carcinoma of renal pelvis" EXACT [DOID:5534, NCIT:C7732]
synonym: "squamous cell carcinoma of the kidney pelvis" EXACT [NCIT:C7732]
synonym: "squamous cell carcinoma of the renal pelvis" EXACT [NCIT:C7732]
xref: DOID:5534 {source="MONDO:equivalentTo"}
xref: MEDGEN:66769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7732 {source="DOID:5534", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0238409 {source="MEDGEN:66769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:5534", source="MONDO:Redundant", source="NCIT:C7732"} ! squamous cell carcinoma
is_a: MONDO:0005519 {source="DOID:5534", source="MONDO:Redundant", source="NCIT:C7732"} ! renal pelvis carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0003498
name: obsolete gallbladder squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006220

[Term]
id: MONDO:0003499
name: sarcomatoid squamous cell skin carcinoma
def: "A squamous cell carcinoma of the skin with a prominent spindle cell component." [NCIT:C4666]
synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" RELATED [DOID:5536, NCIT:C27084]
synonym: "spindle cell (sarcomatoid) squamous cell skin carcinoma" EXACT [DOID:5536, NCIT:C4666]
synonym: "spindle cell squamous carcinoma of skin" EXACT [NCIT:C4666]
synonym: "spindle cell squamous carcinoma of the skin" EXACT [NCIT:C4666]
synonym: "spindle cell squamous cell carcinoma" EXACT [DOID:5536]
synonym: "squamous cell carcinoma, sarcomatoid" RELATED EXCLUDE [DOID:5536]
xref: DOID:5536 {source="MONDO:equivalentTo"}
xref: MEDGEN:87611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27084 {source="MONDO:relatedTo", source="DOID:5536"}
xref: NCIT:C4666 {source="MONDO:equivalentTo", source="DOID:5536"}
xref: SCTID:10288008 {source="DOID:5536"}
xref: SCTID:254653005 {source="MONDO:equivalentTo", source="DOID:5536"}
xref: SCTID:403900000 {source="MONDO:relatedTo", source="DOID:5536"}
xref: UMLS:C0349656 {source="MEDGEN:87611", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002529 {source="DOID:5536", source="NCIT:C4666"} ! skin squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C4666"} ! keratinizing squamous cell carcinoma

[Term]
id: MONDO:0003500
name: squamous cell bile duct carcinoma
def: "A squamous cell carcinoma that involves the bile duct." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct squamous cell carcinoma" EXACT [DOID:5537, MONDO:patterns/location]
xref: DOID:5537 {source="MONDO:equivalentTo"}
xref: MEDGEN:209017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5777 {source="DOID:5537", source="MONDO:directSiblingOf"}
xref: UMLS:C0861861 {source="MEDGEN:209017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:5537", source="MONDO:Entailed", source="MONDO:indirect"} ! squamous cell carcinoma
is_a: MONDO:0005496 {source="DOID:5537", source="MONDO:Redundant"} ! bile duct carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0003501
name: external ear squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the skin of the external ear." [NCIT:C6083]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epidermoid carcinoma of external Ear" EXACT [NCIT:C6083]
synonym: "epidermoid carcinoma of the external Ear" EXACT [NCIT:C6083]
synonym: "epidermoid carcinoma of the external ear" EXACT [DOID:5538, NCIT:C6083]
synonym: "external Ear epidermoid carcinoma" EXACT [NCIT:C6083]
synonym: "external Ear squamous cell carcinoma" EXACT [NCIT:C6083]
synonym: "external ear squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of external Ear" EXACT [NCIT:C6083]
synonym: "squamous cell carcinoma of external ear" RELATED [DOID:5538]
synonym: "squamous cell carcinoma of the external Ear" EXACT [NCIT:C6083]
xref: DOID:5538 {source="MONDO:equivalentTo"}
xref: MEDGEN:232478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6083 {source="MONDO:equivalentTo", source="DOID:5538", source="MONDO:exact-label-match"}
xref: UMLS:C1333494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232478"}
is_a: MONDO:0002944 {source="DOID:5538", source="MONDO:Redundant", source="NCIT:C6083"} ! external ear carcinoma
is_a: MONDO:0010150 {source="MONDO:Redundant", source="NCIT:C6083/inferred"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0003502
name: ureter squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the ureter." [NCIT:C6154]
synonym: "epidermoid carcinoma of the ureter" EXACT [NCIT:C6154]
synonym: "epidermoid carcinoma of ureter" EXACT [NCIT:C6154]
synonym: "squamous cell carcinoma of the ureter" EXACT [NCIT:C6154]
synonym: "squamous cell carcinoma of ureter" EXACT [NCIT:C6154]
synonym: "ureter epidermoid carcinoma" EXACT [NCIT:C6154]
synonym: "ureter squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6154]
synonym: "ureteral epidermoid carcinoma" EXACT [DOID:5539, NCIT:C6154]
synonym: "ureteral squamous cell carcinoma" EXACT [NCIT:C6154]
xref: DOID:5539 {source="MONDO:equivalentTo"}
xref: MEDGEN:237032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6154 {source="MONDO:equivalentTo", source="DOID:5539", source="MONDO:exact-label-match"}
xref: UMLS:C1336879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237032"}
is_a: MONDO:0005096 {source="DOID:5539", source="MONDO:Redundant", source="NCIT:C6154"} ! squamous cell carcinoma
is_a: MONDO:0006481 {source="DOID:5539", source="MONDO:Redundant", source="NCIT:C6154"} ! ureter carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0003503
name: fallopian tube squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the fallopian tube." [NCIT:C6282]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube squamous cell cancer" EXACT [NCIT:C6282]
synonym: "fallopian tube squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6282]
synonym: "squamous cell carcinoma of fallopian tube" EXACT [NCIT:C6282]
synonym: "squamous cell carcinoma of the fallopian tube" EXACT [DOID:5540, NCIT:C6282]
xref: DOID:5540 {source="MONDO:equivalentTo"}
xref: MEDGEN:234262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6282 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5540"}
xref: UMLS:C1333596 {source="MEDGEN:234262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:5540", source="MONDO:Redundant", source="NCIT:C6282"} ! squamous cell carcinoma
is_a: MONDO:0006206 {source="DOID:5540", source="MONDO:Redundant", source="NCIT:C6282"} ! fallopian tube carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003504
name: anal canal neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5603]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal canal NET" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "anal canal neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5603]
synonym: "anal canal neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "anal canal neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "anal canal neuroendocrine tumour" RELATED OMO:0003005 []
synonym: "anal neuroendocrine neoplasm" EXACT [NCIT:C5603]
synonym: "anal neuroendocrine tumor" RELATED [DOID:5545]
synonym: "anal neuroendocrine tumour" RELATED OMO:0003005 []
synonym: "anus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "anus neuroendocrine tumor" RELATED [MONDO:patterns/location]
synonym: "anus neuroendocrine tumour" RELATED OMO:0003005 []
synonym: "neuroendocrine neoplasm of anal canal" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of anus" EXACT [NCIT:C5603]
synonym: "neuroendocrine neoplasm of the anus" EXACT [NCIT:C5603]
synonym: "neuroendocrine tumor of anus" RELATED [DOID:5545, NCIT:C5603]
synonym: "neuroendocrine tumour of anus" RELATED OMO:0003005 []
xref: DOID:5545 {source="MONDO:equivalentTo"}
xref: MEDGEN:231063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5603 {source="DOID:5545", source="MONDO:equivalentTo"}
xref: SCTID:717917007 {source="MONDO:equivalentTo"}
xref: UMLS:C1332273 {source="MEDGEN:231063", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001879 {source="DOID:5545", source="MONDO:Redundant"} ! anus cancer
is_a: MONDO:0003046 {source="DOID:5545", source="MONDO:Redundant", source="NCIT:C5603"} ! anus neoplasm
is_a: MONDO:0024503 {source="NCIT:C5603"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000159 ! anal canal

[Term]
id: MONDO:0003505
name: femoral cancer
def: "A cancer involving a femur." [MONDO:patterns/cancer]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cancer of femur" EXACT [MONDO:patterns/cancer]
synonym: "femoral neoplasm" BROAD [DOID:5546]
synonym: "femur cancer" EXACT [MONDO:patterns/location]
synonym: "malignant femur neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of femur" EXACT [MONDO:patterns/cancer]
synonym: "neoplasm of femur" BROAD [DOID:5546]
xref: DOID:5546 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005266 {source="DOID:5546", source="MONDO:equivalentTo"}
xref: SCTID:126583006 {source="DOID:5546", source="MONDO:directSiblingOf"}
xref: UMLS:C2362822 {source="MEDGEN:1843484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002129 {source="DOID:5546", source="MESH:D005266", source="MONDO:Redundant", source="MONDO:indirect"} ! bone cancer
is_a: MONDO:0005381 {source="DOID:5546/inferred", source="MESH:D005266/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bone disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000981 ! femur

[Term]
id: MONDO:0003506
name: pulmonary artery choriocarcinoma
def: "A rare choriocarcinoma that arises from a pulmonary artery." [NCIT:C5381]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "choriocarcinoma of pulmonary artery" EXACT [NCIT:C5381]
synonym: "choriocarcinoma of the pulmonary artery" EXACT [NCIT:C5381]
synonym: "chorioepithelioma of pulmonary artery" EXACT [NCIT:C5381]
synonym: "chorioepithelioma of the pulmonary artery" EXACT [NCIT:C5381]
synonym: "pulmonary artery choriocarcinoma" EXACT [NCIT:C5381]
synonym: "pulmonary artery choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "pulmonary artery chorioepithelioma" EXACT [NCIT:C5381]
synonym: "pulmonary artery syncytioma" EXACT [NCIT:C5381]
synonym: "syncytioma of pulmonary artery" EXACT [DOID:5547, NCIT:C5381]
synonym: "syncytioma of the pulmonary artery" EXACT [NCIT:C5381]
xref: DOID:5547 {source="MONDO:equivalentTo"}
xref: MEDGEN:233371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5381 {source="MONDO:equivalentTo", source="DOID:5547", source="MONDO:exact-label-match"}
xref: UMLS:C1335571 {source="MEDGEN:233371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002095 {source="DOID:5547", source="MONDO:Entailed", source="MONDO:indirect"} ! vascular cancer
is_a: MONDO:0005207 {source="DOID:5547", source="MONDO:Redundant", source="NCIT:C5381"} ! choriocarcinoma
is_a: MONDO:0006290 {source="MONDO:Redundant", source="NCIT:C5381"} ! malignant germ cell tumor
intersection_of: MONDO:0005207 ! choriocarcinoma
intersection_of: disease_has_location UBERON:0002012 ! pulmonary artery

[Term]
id: MONDO:0003507
name: choriocarcinoma of ovary
def: "A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma." [NCIT:C4515]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choriocarcinoma of ovary" EXACT [NCIT:C4515]
synonym: "choriocarcinoma of the ovary" EXACT [NCIT:C4515]
synonym: "germ cell choriocarcinoma of ovary" EXACT [NCIT:C4515]
synonym: "germ cell choriocarcinoma of the ovary" EXACT [NCIT:C4515]
synonym: "ovarian choriocarcinoma" EXACT [DOID:5550, MONDO:0006332, NCIT:C4515]
synonym: "ovarian germ cell choriocarcinoma" EXACT [NCIT:C4515]
synonym: "ovary choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5550 {source="MONDO:equivalentTo"}
xref: EFO:1000413 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4515 {source="MONDO:equivalentTo", source="EFO:1000413", source="DOID:5550"}
xref: SCTID:254870004 {source="MONDO:equivalentTo", source="DOID:5550"}
xref: UMLS:C0346181 {source="MEDGEN:91089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005207 {source="DOID:5550", source="EFO:1000413", source="MONDO:Redundant", source="NCIT:C4515"} ! choriocarcinoma
is_a: MONDO:0008170 {source="DOID:5550/inferred", source="NCIT:C4515"} ! ovarian cancer
is_a: MONDO:0018171 {source="DOID:5550", source="MONDO:Redundant"} ! malignant germ cell tumor of ovary
intersection_of: MONDO:0005207 ! choriocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003508
name: choriocarcinoma of testis
def: "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choriocarcinoma" RELATED [ONCOTREE:TCCA]
synonym: "choriocarcinoma of testis" EXACT [NCIT:C7733]
synonym: "choriocarcinoma of the testis" EXACT [NCIT:C7733]
synonym: "testicular choriocarcinoma" EXACT [DOID:5551, MONDO:0006445, NCIT:C7733]
synonym: "testis choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5551 {source="MONDO:equivalentTo"}
xref: EFO:1000564 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:65969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7733 {source="EFO:1000564", source="MONDO:equivalentTo", source="DOID:5551"}
xref: ONCOTREE:TCCA {source="MONDO:equivalentTo"}
xref: SCTID:147371000119101 {source="DOID:5551"}
xref: UMLS:C0238449 {source="MONDO:equivalentTo", source="MEDGEN:65969", source="MONDO:MEDGEN"}
is_a: MONDO:0002871 {source="MONDO:Redundant", source="NCIT:C7733"} ! testicular trophoblastic tumor
is_a: MONDO:0003403 {source="MONDO:Entailed", source="NCIT:C7733"} ! testicular non-seminomatous germ cell cancer
is_a: MONDO:0005207 {source="DOID:5551", source="EFO:1000564", source="MONDO:Redundant", source="NCIT:C7733"} ! choriocarcinoma
intersection_of: MONDO:0005207 ! choriocarcinoma
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0003509
name: pineal region choriocarcinoma
def: "A choriocarcinoma (disease) that involves the pineal body." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "choriocarcinoma of pineal area" EXACT [NCIT:C6759]
synonym: "choriocarcinoma of pineal region" EXACT [NCIT:C6759]
synonym: "choriocarcinoma of the pineal area" EXACT [NCIT:C6759]
synonym: "choriocarcinoma of the pineal region" EXACT [NCIT:C6759]
synonym: "pineal area choriocarcinoma" EXACT [NCIT:C6759]
synonym: "pineal choriocarcinoma" EXACT [DOID:5553, NCIT:C6759]
xref: DOID:5553 {source="MONDO:equivalentTo"}
xref: MEDGEN:233327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6759 {source="DOID:5553", source="MONDO:equivalentTo"}
xref: UMLS:C1335414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233327"}
is_a: MONDO:0002073 {source="DOID:5553", source="MONDO:Redundant", source="NCIT:C6759"} ! malignant pineal area germ cell neoplasm
is_a: MONDO:0016740 {source="MONDO:Redundant", source="NCIT:C6759"} ! choriocarcinoma of the central nervous system
intersection_of: MONDO:0005207 ! choriocarcinoma
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0003510
name: malignant testicular germ cell tumor
def: "A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor." [NCIT:C9063]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant germ cell neoplasm of testis" EXACT [NCIT:C9063]
synonym: "malignant germ cell neoplasm of the testis" EXACT [NCIT:C9063]
synonym: "malignant germ cell tumor of testis" EXACT [DOID:5556, NCIT:C9063]
synonym: "malignant germ cell tumor of the testis" EXACT [NCIT:C9063]
synonym: "malignant germ cell tumour of testis" EXACT OMO:0003005 []
synonym: "malignant germ cell tumour of the testis" EXACT OMO:0003005 []
synonym: "malignant testicular germ cell neoplasm" EXACT [NCIT:C9063]
synonym: "malignant testicular germ cell tumor" EXACT [NCIT:C9063]
synonym: "testicular ca. (no germ/tropho.)" EXACT [NCIT:C9063]
synonym: "testicular cancer" BROAD [NCIT:C9063]
synonym: "testicular cancer (excluding germ cell or trophoblastic cancer)" EXACT [NCIT:C9063]
synonym: "testicular germ cell cancer" EXACT [NCIT:C9063]
synonym: "testicular malignant germ cell cancer" RELATED [DOID:5556]
xref: DOID:5556 {source="MONDO:equivalentTo"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9063 {source="DOID:5556", source="MONDO:equivalentTo"}
xref: SCTID:713646001 {source="DOID:5556", source="MONDO:equivalentTo"}
xref: UMLS:C0855197 {source="MEDGEN:163616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005447 {source="DOID:5556/inferred", source="MONDO:Redundant", source="NCIT:C9063"} ! testicular cancer
is_a: MONDO:0006290 {source="MONDO:Redundant", source="NCIT:C9063"} ! malignant germ cell tumor
is_a: MONDO:0010108 {source="DOID:5556", source="MONDO:Redundant", source="NCIT:C9063"} ! testicular germ cell tumor
intersection_of: MONDO:0004992 ! cancer
intersection_of: MONDO:0006290 ! malignant germ cell tumor
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0003511
name: obsolete testicular germ cell cancer
is_obsolete: true
consider: MONDO:0010108

[Term]
id: MONDO:0003512
name: mediastinal mesenchymal tumor
def: "A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "mediastinal soft tissue neoplasm" EXACT [NCIT:C6637]
synonym: "mediastinal soft tissue tumor" EXACT [NCIT:C6637]
synonym: "mediastinal soft tissue tumour" EXACT OMO:0003005 []
synonym: "soft tissue neoplasm of mediastinum" EXACT [NCIT:C6637]
synonym: "soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6637]
synonym: "soft tissue tumor of mediastinum" EXACT [DOID:5560, NCIT:C6637]
synonym: "soft tissue tumor of the mediastinum" EXACT [NCIT:C6637]
synonym: "soft tissue tumour of mediastinum" EXACT OMO:0003005 []
synonym: "soft tissue tumour of the mediastinum" EXACT OMO:0003005 []
xref: DOID:5560 {source="MONDO:equivalentTo"}
xref: MEDGEN:233171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6637 {source="MONDO:equivalentTo", source="DOID:5560"}
xref: UMLS:C1334669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233171"}
is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C6637"} ! soft tissue neoplasm
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6637"} ! neoplasm of mediastinum
intersection_of: MONDO:0006424 ! soft tissue neoplasm
intersection_of: disease_has_location UBERON:0003728 ! mediastinum
relationship: excluded_subClassOf MONDO:0005843 {source="DOID:5560", source="https://orcid.org/0000-0001-5208-3432"} ! mediastinal cancer

[Term]
id: MONDO:0003513
name: gastric teratoma
def: "A mature or immature teratoma that arises from the stomach." [NCIT:C5259]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gastric teratoma" EXACT [NCIT:C5259]
synonym: "stomach teratoma" EXACT [MONDO:patterns/location]
synonym: "teratoma of stomach" EXACT [DOID:5561, NCIT:C5259]
synonym: "teratoma of the stomach" EXACT [NCIT:C5259]
xref: DOID:5561 {source="MONDO:equivalentTo"}
xref: MEDGEN:272665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5259 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5561"}
xref: UMLS:C1333790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272665"}
is_a: MONDO:0002601 {source="DOID:5561", source="MONDO:Redundant", source="NCIT:C5259"} ! teratoma
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C5259/inferred"} ! gastric neoplasm
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0003514
name: malignant teratoma
def: "A malignant form of teratoma." [MONDO:patterns/malignant]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "immature teratoma" RELATED EXCLUDE [DOID:5563]
synonym: "malignant extragonadal teratoma" NARROW [DOID:5563]
synonym: "primary malignant extragonadal teratoma" RELATED EXCLUDE [DOID:5563]
synonym: "teratoma, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:5563 {source="MONDO:equivalentTo"}
xref: MEDGEN:1652407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013724 {source="DOID:5563"}
xref: NCIT:C4286 {source="DOID:5563", source="MONDO:directSiblingOf"}
xref: NCIT:C4287 {source="MONDO:equivalentTo"}
xref: NCIT:C8884 {source="DOID:5563", source="MONDO:relatedTo"}
xref: SCTID:189847002 {source="DOID:5563"}
xref: SCTID:19467007 {source="DOID:5563"}
xref: UMLS:C4722083 {source="MEDGEN:1652407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002601 {source="DOID:5563", source="MONDO:Entailed", source="MONDO:Redundant"} ! teratoma
intersection_of: MONDO:0002601 ! teratoma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003515
name: fallopian tube teratoma
def: "A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube teratoma" EXACT [MONDO:patterns/location]
xref: DOID:5564 {source="MONDO:equivalentTo"}
xref: MEDGEN:309129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40131 {source="DOID:5564", source="MONDO:equivalentTo"}
xref: UMLS:C1517127 {source="MEDGEN:309129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002601 {source="DOID:5564", source="MONDO:Redundant", source="NCIT:C40131"} ! teratoma
is_a: MONDO:0003392 {source="DOID:5564", source="MONDO:Redundant", source="NCIT:C40131"} ! fallopian tube germ cell tumor
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003516
name: adult teratoma
def: "A teratoma that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult teratoma" EXACT [NCIT:C9013]
synonym: "adult teratoma, NOS" RELATED EXCLUDE [DOID:5565]
synonym: "teratoma" BROAD [NCIT:C9013]
synonym: "teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5565 {source="MONDO:equivalentTo"}
xref: MEDGEN:277966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9013 {source="DOID:5565", source="MONDO:equivalentTo"}
xref: SCTID:42717009 {source="DOID:5565"}
xref: UMLS:C1368898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277966"}
is_a: MONDO:0002601 {source="DOID:5565", source="MONDO:Redundant", source="NCIT:C9013"} ! teratoma
intersection_of: MONDO:0002601 ! teratoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003517
name: mature teratoma
def: "A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." [NCIT:C9015]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mature teratoma" EXACT [DOID:5566, NCIT:C9015]
xref: DOID:5566 {source="MONDO:equivalentTo"}
xref: ICDO:9080/0 {source="NCIT:C9015"}
xref: MEDGEN:277967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200105 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9015 {source="DOID:5566", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:VMT {source="MONDO:equivalentTo"}
xref: SCTID:254875009 {source="MONDO:equivalentTo"}
xref: SCTID:42717009 {source="DOID:5566"}
xref: SCTID:55818009 {source="DOID:5566"}
xref: UMLS:C1368910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277967"}
is_a: MONDO:0002601 {source="DOID:5566", source="NCIT:C9015"} ! teratoma

[Term]
id: MONDO:0003518
name: mediastinum teratoma
def: "A teratoma that involves the mediastinum." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinum teratoma" EXACT [MONDO:patterns/location]
synonym: "teratoma of mediastinum" EXACT [DOID:5568, NCIT:C6438]
xref: DOID:5568 {source="MONDO:equivalentTo"}
xref: MEDGEN:233175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6438 {source="DOID:5568", source="MONDO:equivalentTo"}
xref: UMLS:C1334682 {source="MEDGEN:233175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0003519
name: malignant syringoma
def: "A malignant form of syringoma." [MONDO:patterns/malignant]
subset: otar {source="MONDO:OTAR"}
synonym: "MAC" RELATED ABBREVIATION [ONCOTREE:MAC]
synonym: "microcystic adnexal carcinoma" EXACT [DOID:5569, NCIT:C7581]
synonym: "microcystic adnexal carcinoma of skin" EXACT [DOID:5569]
synonym: "syringoma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "syringomatous carcinoma" EXACT [DOID:5569]
xref: DOID:5569 {source="MONDO:equivalentTo"}
xref: MEDGEN:83399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7581 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MAC {source="MONDO:equivalentTo"}
xref: SCTID:254712007 {source="MONDO:equivalentTo"}
xref: UMLS:C0346027 {source="MEDGEN:83399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0002191 ! syringoma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: excluded_subClassOf MONDO:0005506 {source="DOID:5569", source="https://orcid.org/0000-0001-5208-3432"} ! eccrine sweat gland cancer

[Term]
id: MONDO:0003520
name: obsolete malignant acrospiroma
is_obsolete: true
replaced_by: MONDO:0024245

[Term]
id: MONDO:0003521
name: obsolete VIPoma
is_obsolete: true
replaced_by: MONDO:0019960

[Term]
id: MONDO:0003522
name: male orgasm disorder
def: "Persistent delay or absence in orgasm not accounted for by a medical reason." [NCIT:P378]
synonym: "inhibited male orgasm" EXACT [DOID:5576, NCIT:C34959]
synonym: "male orgasmic disorder" EXACT [DOID:5576, NCIT:C34959]
xref: DOID:5576 {source="MONDO:equivalentTo"}
xref: ICD10CM:F52.32 {source="DOID:5576", source="MONDO:equivalentTo"}
xref: MEDGEN:19560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34959 {source="DOID:5576", source="MONDO:equivalentTo"}
xref: SCTID:153261000119109 {source="DOID:5576"}
xref: SCTID:191795002 {source="DOID:5576"}
xref: SCTID:81903006 {source="DOID:5576", source="MONDO:equivalentTo"}
xref: UMLS:C0033949 {source="MEDGEN:19560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000595 {source="NCIT:C34959"} ! sexual and gender identity disorders
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts MF:0000061 ! orgasm
intersection_of: disease_has_location UBERON:0003101 ! male organism
relationship: disease_disrupts MF:0000061 ! orgasm
relationship: excluded_subClassOf MONDO:0003150 {source="DOID:5576", source="https://orcid.org/0000-0001-5208-3432"} ! male reproductive system disorder

[Term]
id: MONDO:0003523
name: gastrin-producing neuroendocrine tumor
def: "A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine." [NCIT:C3050]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "G cell tumor" EXACT [NCIT:C3050]
synonym: "G cell tumour" EXACT OMO:0003005 []
synonym: "G-cell gastrin producing tumor" EXACT [NCIT:C3050]
synonym: "G-cell gastrin producing tumour" EXACT OMO:0003005 []
synonym: "G-cell tumor" EXACT [NCIT:C3050]
synonym: "G-cell tumour" EXACT OMO:0003005 []
synonym: "gastrin cell tumor" EXACT [DOID:5577]
synonym: "gastrin cell tumour" EXACT OMO:0003005 []
synonym: "gastrin secreting tumor" EXACT [DOID:5577, NCIT:C3050]
synonym: "gastrin secreting tumour" EXACT OMO:0003005 []
synonym: "gastrin-producing NET" EXACT [NCIT:C3050]
synonym: "gastrin-producing neuroendocrine tumor" EXACT [NCIT:C3050]
synonym: "gastrinoma" EXACT [NCIT:C3050]
synonym: "malignant gastrinoma" NARROW [DOID:5577]
xref: DOID:5577 {source="MONDO:equivalentTo"}
xref: ICDO:8153/1 {source="NCIT:C3050"}
xref: MEDGEN:6551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015408 {source="DOID:5577"}
xref: NANDO:2200395 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3050 {source="DOID:5577", source="MONDO:equivalentTo"}
xref: SCTID:134156006 {source="DOID:5577"}
xref: SCTID:16189002 {source="DOID:5577"}
xref: SCTID:302824004 {source="DOID:5577"}
xref: UMLS:C0017150 {source="MEDGEN:6551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000386 {source="NCIT:C3050"} ! digestive system neuroendocrine tumor, grade 1/2

[Term]
id: MONDO:0003524
name: gastric gastrin-producing neuroendocrine tumor
def: "A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome." [NCIT:C27444]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gastric G-cell gastrin producing tumor" EXACT [DOID:5579]
synonym: "gastric G-cell gastrin producing tumour" EXACT OMO:0003005 []
synonym: "gastric gastrin producing tumor" EXACT [NCIT:C27444]
synonym: "gastric gastrin producing tumour" EXACT OMO:0003005 []
synonym: "gastric gastrin-producing NET" EXACT [NCIT:C27444]
synonym: "gastric gastrin-producing neuroendocrine tumor" EXACT [NCIT:C27444]
synonym: "gastric gastrinoma" RELATED [DOID:5579]
synonym: "gastrin producing neuroendocrine tumor of the stomach" EXACT [NCIT:C27444]
synonym: "gastrin producing neuroendocrine tumour of the stomach" EXACT OMO:0003005 []
synonym: "gastrin producing tumor of the stomach" EXACT [NCIT:C27444]
synonym: "gastrin producing tumour of the stomach" EXACT OMO:0003005 []
synonym: "gastrin-producing neuroendocrine tumor of stomach" EXACT [MONDO:design_pattern]
synonym: "gastrin-producing neuroendocrine tumor of the stomach" EXACT [NCIT:C27444]
synonym: "gastrin-producing neuroendocrine tumour of stomach" EXACT OMO:0003005 []
synonym: "gastrin-producing neuroendocrine tumour of the stomach" EXACT OMO:0003005 []
synonym: "stomach gastrin-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "stomach gastrin-producing neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:5579 {source="MONDO:equivalentTo"}
xref: MEDGEN:232230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27444 {source="DOID:5579", source="MONDO:equivalentTo"}
xref: UMLS:C1333767 {source="MEDGEN:232230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003523 {source="MONDO:Redundant", source="NCIT:C27444"} ! gastrin-producing neuroendocrine tumor
is_a: MONDO:0015062 {source="NCIT:C27444"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
intersection_of: MONDO:0003523 ! gastrin-producing neuroendocrine tumor
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: excluded_subClassOf MONDO:0001056 {source="DOID:5579", source="https://orcid.org/0000-0001-5208-3432"} ! gastric cancer

[Term]
id: MONDO:0003525
name: pancreatic gastrin-producing neuroendocrine tumor
def: "A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome." [NCIT:C9069]
comment: Editor note: determine difference between NCIT:C95596 and NCIT:C9069
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gastrin-producing neuroendocrine tumor of pancreas" EXACT [MONDO:design_pattern]
synonym: "gastrin-producing neuroendocrine tumour of pancreas" EXACT OMO:0003005 []
synonym: "islet cell tumor, ulcerogenic" RELATED [MESH:D015408]
synonym: "pancreas gastrin-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pancreas gastrin-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "pancreatic G-cell tumor" EXACT [DOID:5580, NCIT:C9069]
synonym: "pancreatic G-cell tumour" EXACT OMO:0003005 []
synonym: "pancreatic gastrin producing NET" EXACT [NCIT:C9069]
synonym: "pancreatic gastrin producing tumor" EXACT [NCIT:C9069]
synonym: "pancreatic gastrin producing tumour" EXACT OMO:0003005 []
synonym: "pancreatic gastrin-producing neuroendocrine tumor" EXACT [NCIT:C9069]
synonym: "pancreatic gastrinoma" RELATED EXCLUDE [DOID:5580]
xref: DOID:5580 {source="MONDO:equivalentTo"}
xref: MEDGEN:235080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015408 {source="MONDO:equivalentTo"}
xref: NCIT:C9069 {source="MONDO:equivalentTo", source="DOID:5580"}
xref: NCIT:C95596 {source="DOID:5580"}
xref: UMLS:C1368066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235080"}
is_a: MONDO:0003523 {source="MONDO:Redundant", source="NCIT:C9069"} ! gastrin-producing neuroendocrine tumor
is_a: MONDO:0019954 {source="NCIT:C9069"} ! pancreatic neuroendocrine tumor
intersection_of: MONDO:0003523 ! gastrin-producing neuroendocrine tumor
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0003526
name: obsolete lung giant cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006275

[Term]
id: MONDO:0003527
name: obsolete Ferguson-Smith tumor
def: "OBSOLETE. A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae." []
is_obsolete: true
replaced_by: MONDO:0007566

[Term]
id: MONDO:0003528
name: Volkmann contracture
def: "An ischemic contracture of the forearm that most often occurs secondary to trauma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Volkmann's ischaemic contracture" EXACT OMO:0003005 []
synonym: "Volkmann's ischemic contracture" EXACT [DOID:5587, ICD9CM:958.6, NCIT:C35130]
xref: DOID:5587 {source="MONDO:equivalentTo"}
xref: ICD10CM:T79.6 {source="DOID:5587"}
xref: ICD9:958.6 {source="DOID:5587", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:22684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054061 {source="DOID:5587", source="MONDO:equivalentTo"}
xref: NCIT:C35130 {source="DOID:5587", source="MONDO:equivalentTo"}
xref: SCTID:111247001 {source="DOID:5587", source="MONDO:equivalentTo"}
xref: SCTID:157667008 {source="DOID:5587"}
xref: UMLS:C0042951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22684"}
is_a: MONDO:0020120 ! skeletal muscle disorder
relationship: disease_has_location UBERON:0002102 ! forelimb
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:5587", source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder

[Term]
id: MONDO:0003529
name: acute pyelonephritis
def: "Sudden onset pyelonephritis." [NCIT:P378]
synonym: "pyelonephritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:559 {source="MONDO:equivalentTo"}
xref: ICD10CM:N10 {source="DOID:559", source="MONDO:equivalentTo"}
xref: ICD9:590.1 {source="DOID:559"}
xref: MEDGEN:636072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123215 {source="DOID:559", source="MONDO:equivalentTo"}
xref: SCTID:155862004 {source="DOID:559"}
xref: SCTID:197771007 {source="DOID:559"}
xref: SCTID:22352007 {source="DOID:559"}
xref: SCTID:266620001 {source="DOID:559"}
xref: SCTID:36689008 {source="DOID:559", source="MONDO:equivalentTo"}
xref: UMLS:C0520575 {source="MEDGEN:636072", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006939 {source="DOID:559", source="MONDO:Redundant", source="NCIT:C123215"} ! pyelonephritis
intersection_of: MONDO:0006939 ! pyelonephritis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003530
name: obsolete aggressive digital papillary adenocarcinoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7185" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044789

[Term]
id: MONDO:0003531
name: papillary eccrine carcinoma
subset: otar {source="MONDO:OTAR"}
synonym: "digital papillary adenocarcinoma" RELATED [DOID:5591]
synonym: "eccrine papillary adenocarcinoma" RELATED [DOID:5591]
synonym: "papillary apocrine fibroadenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "papillary eccrine adenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "papillary eccrine carcinoma" EXACT [NCIT:C27254]
synonym: "tubular apocrine adenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
xref: DOID:5591 {source="MONDO:equivalentTo"}
xref: MEDGEN:313149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27254 {source="MONDO:equivalentTo"}
xref: SCTID:128898008 {source="DOID:5591"}
xref: SCTID:254709009 {source="MONDO:equivalentTo"}
xref: UMLS:C1707880 {source="MONDO:equivalentTo", source="MEDGEN:313149", source="MONDO:MEDGEN"}
is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C27254"} ! papillary adenocarcinoma
is_a: MONDO:0024240 {source="DOID:5591", source="MONDO:Redundant", source="NCIT:C27254"} ! eccrine carcinoma
intersection_of: MONDO:0002512 {source="NCIT:C27254"} ! papillary adenocarcinoma
intersection_of: MONDO:0024240 {source="NCIT:C27254"} ! eccrine carcinoma

[Term]
id: MONDO:0003532
name: breast papillary carcinoma
def: "A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells." [NCIT:P378]
synonym: "breast papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "breast solid papillary carcinoma" NARROW [DOID:5592]
synonym: "Papillary breast cancer" EXACT [NCIT:C9134]
synonym: "papillary breast carcinoma" EXACT [NCIT:C9134]
synonym: "papillary carcinoma of breast" EXACT [DOID:5592, NCIT:C9134]
synonym: "papillary carcinoma of the breast" EXACT [DOID:5592, NCIT:C9134]
synonym: "solid papillary carcinoma of the breast" NARROW [DOID:5592]
xref: DOID:5592 {source="MONDO:equivalentTo"}
xref: MEDGEN:818226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6870 {source="DOID:5592"}
xref: NCIT:C9134 {source="MONDO:equivalentTo"}
xref: UMLS:C3812899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:818226"}
is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C9134"} ! papillary adenocarcinoma
is_a: MONDO:0004989 {source="DOID:5592", source="MONDO:Redundant", source="NCIT:C9134/inferred"} ! breast carcinoma
is_a: MONDO:0005590 {source="NCIT:C9134"} ! breast ductal adenocarcinoma
is_a: MONDO:0006509 {source="DOID:5592", source="MONDO:Redundant", source="NCIT:C9134/inferred"} ! papillary carcinoma
intersection_of: MONDO:0006509 ! papillary carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003533
name: obsolete gastric papillary adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006228

[Term]
id: MONDO:0003534
name: papillary thymic adenocarcinoma
def: "A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "papillary carcinoma of the Thymus" EXACT [DOID:5595, NCIT:C27937]
synonym: "papillary carcinoma of Thymus" EXACT [NCIT:C27937]
synonym: "thymic papillary adenocarcinoma" EXACT [NCIT:C27937]
synonym: "thymic papillary carcinoma" EXACT [NCIT:C27937]
synonym: "thymus papillary adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "Thymus papillary carcinoma" EXACT [NCIT:C27937]
xref: DOID:5595 {source="MONDO:equivalentTo"}
xref: MEDGEN:233836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27937 {source="MONDO:equivalentTo", source="DOID:5595"}
xref: UMLS:C1335327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233836"}
is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C27937"} ! papillary adenocarcinoma
is_a: MONDO:0003209 {source="DOID:5595", source="MONDO:Redundant", source="NCIT:C27937"} ! thymus gland adenocarcinoma
intersection_of: MONDO:0002512 ! papillary adenocarcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0003535
name: fallopian tube papillary adenocarcinoma
def: "An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern." [NCIT:C6267]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fallopian tube papillary adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6267]
synonym: "papillary adenocarcinoma of fallopian tube" EXACT [NCIT:C6267]
synonym: "papillary adenocarcinoma of the fallopian tube" EXACT [DOID:5597, NCIT:C6267]
xref: DOID:5597 {source="MONDO:equivalentTo"}
xref: MEDGEN:234261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6267 {source="DOID:5597", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234261"}
is_a: MONDO:0002512 {source="DOID:5597", source="MONDO:Redundant", source="NCIT:C6267"} ! papillary adenocarcinoma
is_a: MONDO:0002746 {source="DOID:5597", source="MONDO:Redundant", source="NCIT:C6267"} ! fallopian tube adenocarcinoma
intersection_of: MONDO:0002512 ! papillary adenocarcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003536
name: obsolete fallopian tube serous adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006208

[Term]
id: MONDO:0003537
name: precursor T-lymphoblastic lymphoma/leukemia
def: "A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" [NCIT:C8694]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "precursor T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8694]
synonym: "precursor T lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8694]
synonym: "precursor T-lymphoblastic lymphoma/leukemia" EXACT [DOID:5599, NCIT:C8694]
synonym: "T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8694]
xref: DOID:5599 {source="MONDO:equivalentObsolete"}
xref: ICDO:9837/3 {source="NCIT:C8694"}
xref: MEDGEN:224897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8694 {source="MONDO:equivalentTo"}
xref: UMLS:C1301359 {source="MEDGEN:224897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003538 {source="DOID:5599", source="MONDO:Redundant", source="NCIT:C8694"} ! precursor lymphoblastic lymphoma/leukemia
is_a: MONDO:0024615 {source="MONDO:Redundant", source="NCIT:C8694"} ! T-cell and NK-cell neoplasm
intersection_of: MONDO:0003538 ! precursor lymphoblastic lymphoma/leukemia
intersection_of: MONDO:0024615 ! T-cell and NK-cell neoplasm

[Term]
id: MONDO:0003538
name: precursor lymphoblastic lymphoma/leukemia
def: "A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "precursor lymphoblastic leukemia/lymphoma" EXACT [NCIT:C7055]
synonym: "precursor lymphoblastic lymphoma/leukemia" EXACT [NCIT:C7055]
synonym: "precursor lymphoid neoplasm" EXACT [NCIT:C7055]
xref: DOID:5600 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:235492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054198 {source="DOID:5600"}
xref: NCIT:C7055 {source="DOID:5600", source="MONDO:equivalentTo"}
xref: UMLS:C1335469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235492"}
is_a: MONDO:0005157 {source="EFO:0009119/inferred", source="MONDO:Redundant", source="NCIT:C7055"} ! lymphoid neoplasm

[Term]
id: MONDO:0003539
name: T-cell adult acute lymphocytic leukemia
def: "An acute T-lymphoblastic leukemia occurring in adults." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute Adult T-cell Leukemia-lymphoma" EXACT [DOID:5602]
synonym: "adult acute lymphoblastic leukaemia of T cell" EXACT OMO:0003005 []
synonym: "adult acute lymphoblastic leukemia of T cell" EXACT [MONDO:design_pattern]
synonym: "adult precursor T lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult precursor T lymphoblastic leukemia" EXACT [DOID:5602, NCIT:C9142]
synonym: "adult precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult precursor T-lymphoblastic leukemia" EXACT [NCIT:C9142]
synonym: "adult T acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult T acute lymphoblastic leukemia" EXACT [NCIT:C9142]
synonym: "adult T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult T-cell acute lymphoblastic leukemia" EXACT [NCIT:C9142]
synonym: "T Acute Lymphoblastic Leukaemia" EXACT OMO:0003005 []
synonym: "T Acute Lymphoblastic Leukemia" EXACT [NCIT:C9142]
synonym: "T cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "T cell adult acute lymphoblastic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "T cell adult acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "T cell adult acute lymphocytic leukemia" EXACT [MONDO:patterns/location]
synonym: "T cell adult ALL" EXACT [NCIT:C9142]
synonym: "T-cell adult ALL" EXACT [NCIT:C9142]
xref: DOID:5602 {source="MONDO:equivalentTo"}
xref: EFO:1001936 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9142 {source="MONDO:equivalentTo", source="DOID:5602"}
xref: UMLS:C0279592 {source="MEDGEN:79009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003541 {source="DOID:5602", source="MONDO:Redundant", source="NCIT:C9142"} ! adult acute lymphoblastic leukemia
is_a: MONDO:0005525 {source="DOID:5602", source="MONDO:Entailed", source="MONDO:Redundant"} ! T-cell leukemia
intersection_of: MONDO:0003541 ! adult acute lymphoblastic leukemia
intersection_of: disease_has_location CL:0000084 ! T cell
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003540
name: obsolete acute T cell leukemia
subset: otar {source="MONDO:OTAR"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7186" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004963

[Term]
id: MONDO:0003541
name: adult acute lymphoblastic leukemia
def: "An acute lymphoblastic leukemia occurring during adulthood." [NCIT:C4967]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 []
synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C4967]
synonym: "adult acute lymphoblastic leukemia" EXACT [NCIT:C4967]
synonym: "adult acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "adult acute lymphocytic leukemia" EXACT [NCIT:C4967]
synonym: "adult acute lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "adult acute lymphogenous leukemia" EXACT [NCIT:C4967]
synonym: "adult acute lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "adult acute lymphoid leukemia" EXACT [DOID:5604, NCIT:C4967]
synonym: "adult ALL" EXACT [NCIT:C4967]
synonym: "adult precursor lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "adult precursor lymphoblastic leukemia" EXACT [NCIT:C4967]
xref: DOID:5604 {source="MONDO:equivalentTo"}
xref: MEDGEN:199693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4967 {source="MONDO:equivalentTo", source="DOID:5604"}
xref: UMLS:C0751606 {source="MEDGEN:199693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004967 {source="DOID:5604", source="NCIT:C4967"} ! acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003542
name: dental pulp calcification
synonym: "pulp calcification" EXACT [DOID:5608]
synonym: "pulp calcifications" EXACT [DOID:5608]
synonym: "pulpal calcifications" EXACT [DOID:5608]
xref: DOID:5608 {source="MONDO:equivalentTo"}
xref: ICD10CM:K04.2 {source="DOID:5608", source="MONDO:directSiblingOf"}
xref: MEDGEN:41471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003784 {source="MONDO:equivalentTo", source="DOID:5608"}
xref: SCTID:57602001 {source="MONDO:equivalentTo", source="DOID:5608"}
xref: UMLS:C0011401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41471"}
is_a: MONDO:0003394 {source="DOID:5608", source="MESH:D003784"} ! dental pulp disorder

[Term]
id: MONDO:0003543
name: trigeminal nerve disorder
def: "A disease involving the trigeminal nerve." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of trigeminal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of trigeminal nerve" EXACT []
synonym: "disorder of the fifth cranial nerve" RELATED []
synonym: "disorder of trigeminal nerve" EXACT [MONDO:patterns/location_top]
synonym: "disorders of the fifth nerve" RELATED []
synonym: "disorders of the vth cranial nerve" RELATED []
synonym: "trigeminal nerve disease" EXACT [MONDO:patterns/location]
synonym: "trigeminal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "trigeminal nerve disorder" EXACT []
xref: DOID:561 {source="MONDO:equivalentTo"}
xref: EFO:0009569 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:350.8 {source="DOID:561"}
xref: MEDGEN:101823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020433 {source="MONDO:equivalentTo"}
xref: NCIT:C26952 {source="MONDO:equivalentTo"}
xref: SCTID:64309007 {source="MONDO:equivalentTo"}
xref: UMLS:C0152177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101823"}
is_a: MONDO:0003569 {source="DOID:561", source="MESH:D020433/inferred", source="MONDO:Redundant", source="NCIT:C26952"} ! cranial nerve neuropathy
is_a: MONDO:0003620 {source="DOID:561/inferred", source="MONDO:Redundant"} ! peripheral nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001645 ! trigeminal nerve

[Term]
id: MONDO:0003544
name: spinal cord cancer
def: "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." [NCIT:C3572]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of spinal cord" EXACT [MONDO:patterns/cancer]
synonym: "intraspinal tumor" BROAD [DOID:5612, NCIT:C3382]
synonym: "intraspinal tumour" BROAD OMO:0003005 []
synonym: "malignant neoplasm of spinal cord" EXACT [MONDO:patterns/cancer, NCIT:C3572]
synonym: "malignant neoplasm of the spinal cord" EXACT [NCIT:C3572]
synonym: "malignant spinal cord neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3572]
synonym: "malignant spinal cord tumor" EXACT [NCIT:C3572]
synonym: "malignant spinal cord tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of spinal cord" EXACT [NCIT:C3572]
synonym: "malignant tumor of the spinal cord" EXACT [DOID:5612, NCIT:C3572]
synonym: "malignant tumour of spinal cord" EXACT OMO:0003005 []
synonym: "malignant tumour of the spinal cord" EXACT OMO:0003005 []
synonym: "spinal cancer" EXACT [DOID:5612]
synonym: "spinal cord cancer" EXACT [MONDO:patterns/location]
synonym: "spinal cord neoplasm" BROAD [DOID:5612]
synonym: "spinal neoplasm" RELATED [DOID:5612]
synonym: "spine cancer" EXACT [NCIT:C3572]
synonym: "tumor of the spinal cord" BROAD [DOID:5612, NCIT:C3381]
synonym: "tumour of the spinal cord" BROAD OMO:0003005 []
xref: DOID:5612 {source="MONDO:equivalentTo"}
xref: ICD10CM:C72.0 {source="DOID:5612", source="MONDO:equivalentTo"}
xref: ICD9:192.2 {source="DOID:5612", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013120 {source="DOID:5612"}
xref: MESH:D013125 {source="DOID:5612"}
xref: NCIT:C3381 {source="DOID:5612"}
xref: NCIT:C3572 {source="DOID:5612", source="MONDO:equivalentTo"}
xref: SCTID:126962006 {source="DOID:5612"}
xref: SCTID:363475005 {source="DOID:5612", source="MONDO:equivalentTo"}
xref: SCTID:709289008 {source="DOID:5612"}
xref: SCTID:94068003 {source="DOID:5612"}
xref: UMLS:C0153646 {source="MEDGEN:56317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002545 {source="DOID:5612", source="MONDO:Redundant", source="NCIT:C3572/inferred"} ! spinal cord disorder
is_a: MONDO:0002714 {source="DOID:5612", source="MONDO:Redundant", source="NCIT:C3572"} ! central nervous system cancer
is_a: MONDO:0021234 {source="MONDO:Redundant", source="NCIT:C3572"} ! spinal cord neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0003545
name: intradural extramedullary spinal canal neoplasm
def: "A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression." [NCIT:C5135]
synonym: "intradural extramedullary neoplasm of spinal canal" EXACT [NCIT:C5135]
synonym: "intradural extramedullary neoplasm of the spinal canal" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal canal neoplasm" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal canal tumor" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal canal tumors" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal canal tumour" EXACT OMO:0003005 []
synonym: "intradural extramedullary spinal canal tumours" EXACT OMO:0003005 []
synonym: "intradural extramedullary spinal neoplasms" EXACT [NCIT:C5135]
synonym: "intradural extramedullary spinal tumors" EXACT [DOID:5615, NCIT:C5135]
synonym: "intradural extramedullary spinal tumours" EXACT OMO:0003005 []
synonym: "intradural extramedullary tumor of spinal canal" EXACT [NCIT:C5135]
synonym: "intradural extramedullary tumor of the spinal canal" EXACT [NCIT:C5135]
synonym: "intradural extramedullary tumour of spinal canal" EXACT OMO:0003005 []
synonym: "intradural extramedullary tumour of the spinal canal" EXACT OMO:0003005 []
synonym: "spinal canal intradural extramedullary neoplasm" RELATED [DOID:5615]
xref: DOID:5615 {source="MONDO:equivalentTo"}
xref: MEDGEN:272771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5135 {source="MONDO:equivalentTo", source="DOID:5615"}
xref: UMLS:C1334255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272771"}
is_a: MONDO:0005070 {source="DOID:5615/inferred", source="NCIT:C5135/inferred"} ! neoplasm
relationship: disease_has_location UBERON:0003691 ! epidural space

[Term]
id: MONDO:0003546
name: third cranial nerve disorder
def: "A disease involving the oculomotor nerve." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of oculomotor nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of oculomotor nerve" EXACT []
synonym: "disorder of oculomotor nerve" EXACT [DOID:562, MONDO:patterns/location_top]
synonym: "oculomotor nerve disease" EXACT [MONDO:patterns/location]
synonym: "oculomotor nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "oculomotor nerve disorder" EXACT [DOID:562, NCIT:C27598]
xref: DOID:562 {source="MONDO:equivalentTo"}
xref: MEDGEN:78766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015840 {source="MONDO:equivalentTo"}
xref: NCIT:C27598 {source="MONDO:equivalentTo", source="DOID:562"}
xref: SCTID:230531004 {source="DOID:562"}
xref: SCTID:60750009 {source="MONDO:equivalentTo", source="DOID:562"}
xref: UMLS:C0271353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78766"}
is_a: MONDO:0003569 {source="DOID:562", source="MESH:D015840/inferred", source="MONDO:Redundant", source="NCIT:C27598"} ! cranial nerve neuropathy
is_a: MONDO:0003620 {source="DOID:562/inferred", source="MONDO:Redundant"} ! peripheral nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001643 ! oculomotor nerve

[Term]
id: MONDO:0003547
name: obsolete histiocytic and dendritic cell cancer
xref: NCIT:C43251 {source="MONDO:otherHierarchy"}
xref: NCIT:C9294 {source="DOID:5621", source="MONDO:relatedTo"}
is_obsolete: true
replaced_by: MONDO:0006247

[Term]
id: MONDO:0003548
name: adenosquamous breast carcinoma
def: "An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation." [NCIT:C40361]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosquamous breast carcinoma" EXACT [NCIT:C40361]
synonym: "breast adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "metaplastic adenosquamous carcinoma" RELATED [ONCOTREE:MASC]
xref: DOID:5623 {source="MONDO:equivalentTo"}
xref: MEDGEN:267645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40361 {source="DOID:5623", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:MASC {source="MONDO:equivalentTo"}
xref: UMLS:C1510796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267645"}
is_a: MONDO:0006043 {source="DOID:5623", source="MONDO:Redundant", source="ONCOTREE:MASC/inferred"} ! metaplastic breast carcinoma
is_a: MONDO:0006074 {source="MONDO:Redundant", source="NCIT:C40361"} ! adenosquamous carcinoma
is_a: MONDO:0006256 {source="MONDO:Redundant", source="NCIT:C40361"} ! invasive breast carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003549
name: adenosquamous bile duct carcinoma
def: "An adenosquamous carcinoma that arises from the bile ducts." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosquamous bile duct carcinoma" EXACT [NCIT:C5778]
synonym: "adenosquamous carcinoma of bile duct" EXACT [NCIT:C5778]
synonym: "adenosquamous carcinoma of the bile duct" EXACT [NCIT:C5778]
synonym: "bile duct adenosquamous carcinoma" EXACT [DOID:5624, MONDO:patterns/location, NCIT:C5778]
xref: DOID:5624 {source="MONDO:equivalentTo"}
xref: MEDGEN:163666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5778 {source="DOID:5624"}
xref: UMLS:C0861854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163666"}
is_a: MONDO:0003500 {source="DOID:5624", source="MONDO:Entailed", source="MONDO:Redundant"} ! squamous cell bile duct carcinoma
is_a: MONDO:0006074 {source="DOID:5624", source="MONDO:Redundant"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0003550
name: esophageal adenosquamous carcinoma
def: "An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components." [NCIT:C27421]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophageal adenosquamous cancer" EXACT [NCIT:C27421]
synonym: "esophageal adenosquamous carcinoma" EXACT [NCIT:C27421]
synonym: "esophagus adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "oesophagus adenosquamous carcinoma" EXACT OMO:0003005 []
xref: DOID:5625 {source="MONDO:equivalentTo"}
xref: MEDGEN:389165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27421 {source="DOID:5625", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C2063886 {source="MEDGEN:389165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006074 {source="MONDO:Redundant", source="NCIT:C27421"} ! adenosquamous carcinoma
is_a: MONDO:0019086 {source="DOID:5625", source="MONDO:Redundant", source="NCIT:C27421"} ! carcinoma of esophagus
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0003551
name: thymic adenosquamous carcinoma
def: "A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components." [NCIT:C6458]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosquamous carcinoma of the Thymus" EXACT [DOID:5626, NCIT:C6458]
synonym: "adenosquamous carcinoma of Thymus" EXACT [NCIT:C6458]
synonym: "thymic adenosquamous carcinoma" EXACT [NCIT:C6458]
synonym: "Thymus adenosquamous carcinoma" EXACT [NCIT:C6458]
synonym: "thymus adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5626 {source="MONDO:equivalentTo"}
xref: MEDGEN:272286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6458 {source="MONDO:equivalentTo", source="DOID:5626"}
xref: UMLS:C1332171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272286"}
is_a: MONDO:0003493 {source="DOID:5626", source="MONDO:Entailed", source="MONDO:Redundant"} ! thymus squamous cell carcinoma
is_a: MONDO:0006074 {source="DOID:5626", source="MONDO:Redundant", source="NCIT:C6458"} ! adenosquamous carcinoma
is_a: MONDO:0006451 {source="DOID:5626/inferred", source="NCIT:C6458"} ! thymic carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0003552
name: obsolete adenosquamous gallbladder carcinoma
is_obsolete: true
replaced_by: MONDO:0006217

[Term]
id: MONDO:0003553
name: ampulla of vater adenosquamous carcinoma
def: "A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C27418]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ampulla of Vater adenosquamous carcinoma" EXACT [NCIT:C27418]
synonym: "hepatopancreatic ampulla adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5628 {source="MONDO:equivalentTo"}
xref: MEDGEN:231056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27418 {source="MONDO:equivalentTo", source="DOID:5628", source="MONDO:exact-label-match"}
xref: UMLS:C1332245 {source="MONDO:equivalentTo", source="MEDGEN:231056", source="MONDO:MEDGEN"}
is_a: MONDO:0003490 {source="DOID:5628", source="MONDO:Entailed", source="MONDO:Redundant"} ! ampulla of vater squamous cell carcinoma
is_a: MONDO:0003549 {source="DOID:5628", source="MONDO:Redundant", source="MONDO:indirect"} ! adenosquamous bile duct carcinoma
is_a: MONDO:0006074 {source="DOID:5628/inferred", source="MONDO:Redundant", source="NCIT:C27418"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla

[Term]
id: MONDO:0003554
name: adenosquamous colon carcinoma
def: "An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosquamous carcinoma of colon" EXACT [DOID:5629, NCIT:C5491]
synonym: "adenosquamous carcinoma of the colon" EXACT [NCIT:C5491]
synonym: "adenosquamous colon carcinoma" EXACT [NCIT:C5491]
synonym: "colon adenosquamous cancer" EXACT [NCIT:C5491]
synonym: "colon adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C5491]
synonym: "colonic adenosquamous carcinoma" EXACT [DOID:5629, NCIT:C5491]
xref: DOID:5629 {source="MONDO:equivalentTo"}
xref: MEDGEN:232083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5491 {source="MONDO:equivalentTo", source="DOID:5629"}
xref: UMLS:C1333082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232083"}
is_a: MONDO:0002032 {source="DOID:5629", source="MONDO:Redundant", source="NCIT:C5491"} ! colon carcinoma
is_a: MONDO:0006157 {source="MONDO:Redundant", source="NCIT:C5491"} ! colorectal adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0003555
name: Bartholin gland adenosquamous carcinoma
def: "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Bartholin gland adenosquamous carcinoma" EXACT [DOID:5630, NCIT:C40296]
synonym: "Bartholin's gland adenosquamous carcinoma" EXACT [NCIT:C40296]
synonym: "major vestibular gland adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5630 {source="MONDO:equivalentTo"}
xref: MEDGEN:267339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40296 {source="DOID:5630", source="MONDO:equivalentTo"}
xref: UMLS:C1511050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267339"}
is_a: MONDO:0004053 {source="DOID:5630", source="MONDO:Entailed", source="MONDO:Redundant"} ! bartholin gland squamous cell carcinoma
is_a: MONDO:0006074 {source="DOID:5630", source="MONDO:Redundant", source="NCIT:C40296"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0003556
name: endometrial adenosquamous carcinoma
def: "A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenosquamous carcinoma of endometrium" EXACT [DOID:5631, NCIT:C6290]
synonym: "adenosquamous carcinoma of the endometrium" RELATED [GARD:0013107]
synonym: "endometrial adenosquamous cancer" RELATED [GARD:0013107]
synonym: "endometrial adenosquamous carcinoma" EXACT [GARD:0013107, NCIT:C114656]
synonym: "endometrium adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5631 {source="MONDO:equivalentTo"}
xref: EFO:1001952 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:856563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114656 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C3896969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:856563"}
is_a: MONDO:0002447 {source="DOID:5631/inferred", source="MONDO:Redundant", source="NCIT:C114656"} ! endometrial carcinoma
is_a: MONDO:0006074 {source="DOID:5631", source="MONDO:Redundant", source="NCIT:C114656"} ! adenosquamous carcinoma
is_a: MONDO:0006198 {source="DOID:5631", source="MONDO:Entailed", source="MONDO:Redundant"} ! endometrial squamous cell carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0003557
name: optic nerve sheath meningioma
def: "A meningioma that affects the sheath of the optic nerve." [NCIT:P378]
comment: Editor note: TODO axiomatize
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "meningioma of optic nerve sheath" EXACT [NCIT:C4538]
synonym: "meningioma of the optic nerve sheath" EXACT [NCIT:C4538]
synonym: "optic nerve sheath meningioma" EXACT [DOID:5632, NCIT:C4538]
xref: DOID:5632 {source="MONDO:equivalentTo"}
xref: ICD9:237.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4538 {source="DOID:5632", source="MONDO:equivalentTo"}
xref: SCTID:254978007 {source="DOID:5632", source="MONDO:equivalentTo"}
xref: UMLS:C0346328 {source="MEDGEN:138057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002640 {source="DOID:5632", source="MONDO:Entailed", source="MONDO:Redundant"} ! optic nerve neoplasm
is_a: MONDO:0016642 {source="NCIT:C4538/inferred"} ! meningioma
relationship: disease_has_location UBERON:0000941 ! cranial nerve II

[Term]
id: MONDO:0003558
name: adenosquamous prostate carcinoma
def: "An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones." [NCIT:P378]
synonym: "adenosquamous carcinoma of prostate" EXACT [DOID:5634, NCIT:C5538]
synonym: "adenosquamous carcinoma of the prostate" EXACT [DOID:5634, NCIT:C5538]
synonym: "prostate adenosquamous carcinoma" EXACT [NCIT:C5538]
synonym: "prostate gland adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5634 {source="MONDO:equivalentTo"}
xref: MEDGEN:233353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5538 {source="DOID:5634", source="MONDO:equivalentTo"}
xref: UMLS:C1335503 {source="MEDGEN:233353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005159 {source="DOID:5634", source="MONDO:Redundant", source="NCIT:C5538/inferred"} ! prostate carcinoma
is_a: MONDO:0006074 {source="MONDO:Redundant", source="NCIT:C5538"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0003559
name: obsolete cervical adenosquamous carcinoma
is_obsolete: true
replaced_by: MONDO:0006134

[Term]
id: MONDO:0003560
name: obsolete adenosquamous pancreas carcinoma
is_obsolete: true
replaced_by: MONDO:0005614

[Term]
id: MONDO:0003561
name: malignant giant cell tumor of soft parts
def: "An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "giant cell fibrous histiocytoma" EXACT [NCIT:C8380]
synonym: "giant cell malignant fibrous histiocytoma" EXACT [NCIT:C8380]
synonym: "malignant giant cell neoplasm of soft parts" EXACT [DOID:5638, NCIT:C8380]
synonym: "malignant giant cell tumor of soft parts" EXACT [NCIT:C8380]
synonym: "malignant giant cell tumor of soft parts (morphologic abnormality)" EXACT [DOID:5638]
synonym: "malignant giant cell tumour of soft parts (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "malignant Osteoclastoma" EXACT [NCIT:C8380]
synonym: "undifferentiated pleomorphic sarcoma with osteoclast-like giant cells" EXACT [NCIT:C8380]
xref: DOID:5638 {source="MONDO:equivalentTo"}
xref: ICDO:9251/3 {source="NCIT:C8380"}
xref: MEDGEN:90807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8380 {source="MONDO:equivalentTo", source="DOID:5638"}
xref: SCTID:48460009 {source="DOID:5638"}
xref: UMLS:C0334554 {source="MEDGEN:90807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002142 {source="DOID:5638", source="NCIT:C8380"} ! undifferentiated pleomorphic sarcoma
is_a: MONDO:0002402 {source="NCIT:C8380"} ! malignant giant cell tumor

[Term]
id: MONDO:0003562
name: rete testis neoplasm
def: "A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma." [NCIT:C39955]
synonym: "neoplasm of rete testis" EXACT [MONDO:patterns/neoplasm]
synonym: "rete testis neoplasm" EXACT [NCIT:C39955]
synonym: "rete testis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "rete testis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "rete testis tumour" EXACT OMO:0003005 []
synonym: "tumor of rete testis" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of rete testis" EXACT OMO:0003005 []
xref: DOID:5639 {source="MONDO:equivalentTo"}
xref: MEDGEN:308162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39955 {source="MONDO:equivalentTo", source="DOID:5639", source="MONDO:exact-label-match"}
xref: UMLS:C1514912 {source="MEDGEN:308162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003959 ! rete testis

[Term]
id: MONDO:0003563
name: diffuse pulmonary fibrosis
def: "Diffuse replacement of the lung tissue by connective tissue." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:5641 {source="MONDO:equivalentTo"}
xref: MEDGEN:167847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27216 {source="DOID:5641", source="MONDO:equivalentTo"}
xref: UMLS:C0865849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167847"}
is_a: MONDO:0002771 {source="DOID:5641", source="NCIT:C27216"} ! pulmonary fibrosis

[Term]
id: MONDO:0003564
name: localized pulmonary fibrosis
def: "Replacement of the lung tissue by connective tissue in a specific area of the lung." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:5642 {source="MONDO:equivalentTo"}
xref: MEDGEN:137936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27103 {source="DOID:5642", source="MONDO:equivalentTo"}
xref: SCTID:233726000 {source="DOID:5642", source="MONDO:equivalentTo"}
xref: UMLS:C0340127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137936"}
is_a: MONDO:0002771 {source="DOID:5642", source="NCIT:C27103"} ! pulmonary fibrosis

[Term]
id: MONDO:0003565
name: urethral villous adenoma
def: "An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern." [NCIT:C39872]
synonym: "urethra villous adenoma" EXACT [MONDO:patterns/location]
synonym: "urethral villous adenoma" EXACT [NCIT:C39872]
xref: DOID:5643 {source="MONDO:equivalentTo"}
xref: MEDGEN:274360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39872 {source="DOID:5643", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519828 {source="MEDGEN:274360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C39872"} ! villous adenoma
is_a: MONDO:0004184 {source="DOID:5643/inferred", source="MONDO:Redundant", source="NCIT:C39872/inferred"} ! urethral disorder
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C39872/inferred"} ! urinary system neoplasm
is_a: MONDO:0021239 {source="MONDO:Redundant", source="NCIT:C39872"} ! urethra neoplasm
intersection_of: MONDO:0000502 ! villous adenoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0003566
name: obsolete choroid plexus carcinoma
is_obsolete: true
replaced_by: MONDO:0016718

[Term]
id: MONDO:0003567
name: bilateral hypoactive labyrinth
synonym: "hypoactive bilateral labyrinthine dysfunction" EXACT [DOID:565]
synonym: "hypoactive labyrinth, bilateral" EXACT [DOID:565, ICD9CM:386.54]
xref: DOID:565 {source="MONDO:equivalentTo"}
xref: ICD9:386.54 {source="DOID:565"}
xref: MEDGEN:510004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194375009 {source="MONDO:equivalentTo", source="DOID:565"}
xref: SCTID:71682006 {source="DOID:565"}
xref: UMLS:C0155518 {source="MEDGEN:510004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:565", source="https://github.com/monarch-initiative/mondo/issues/389"} ! inner ear disorder

[Term]
id: MONDO:0003568
name: disorder of optic chiasm
def: "A disease that involves the optic chiasma." [MONDO:patterns/location]
synonym: "chiasma syndrome" EXACT [DOID:5655]
synonym: "chiasmal syndrome" EXACT [DOID:5655, Wikipedia:Chiasmal_syndrome]
synonym: "disease of optic chiasma" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of optic chiasma" EXACT []
synonym: "disorder of optic chiasm" EXACT [DOID:5655, ICD9CM:377.5]
synonym: "disorder of optic chiasma" EXACT [MONDO:patterns/location_top]
synonym: "optic chiasma disease" EXACT []
synonym: "optic chiasma disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:5655 {source="MONDO:equivalentTo"}
xref: ICD10CM:H47.4 {source="DOID:5655", source="MONDO:equivalentTo"}
xref: ICD9:377.5 {source="DOID:5655"}
xref: ICD9:377.63 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194061008 {source="DOID:5655"}
xref: SCTID:70476006 {source="DOID:5655", source="MONDO:equivalentTo"}
xref: UMLS:C0155307 {source="MEDGEN:509905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000959 ! optic chiasma

[Term]
id: MONDO:0003569
name: cranial nerve neuropathy
def: "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." [NCIT:C26733]
subset: otar {source="MONDO:OTAR"}
synonym: "cranial nerve disease" EXACT [NCIT:C26733]
synonym: "cranial nerve disorder" EXACT [DOID:5656, NCIT:C26733]
synonym: "cranial neuron projection bundle disease" EXACT [MONDO:patterns/location]
synonym: "cranial neuron projection bundle disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "cranial neuropathy" EXACT [NCIT:C26733]
synonym: "disease of cranial neuron projection bundle" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cranial neuron projection bundle" EXACT []
synonym: "disorder of cranial nerve" EXACT [DOID:5656, NCIT:C26733]
synonym: "disorder of cranial neuron projection bundle" EXACT [MONDO:patterns/location_top]
xref: DOID:5656 {source="MONDO:equivalentTo"}
xref: ICD10CM:G52.9 {source="DOID:5656"}
xref: ICD9:352.9 {source="DOID:5656", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003389 {source="DOID:5656", source="MONDO:equivalentTo"}
xref: NCIT:C26733 {source="DOID:5656", source="MONDO:equivalentTo"}
xref: SCTID:193104009 {source="DOID:5656"}
xref: SCTID:267598004 {source="DOID:5656"}
xref: SCTID:267709002 {source="DOID:5656"}
xref: SCTID:276379008 {source="DOID:5656"}
xref: SCTID:73013002 {source="DOID:5656", source="MONDO:equivalentTo"}
xref: UMLS:C0010266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1160"}
is_a: MONDO:0005071 {source="DOID:5656/inferred", source="MESH:D003389", source="MONDO:Redundant", source="NCIT:C26733"} ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0034713 ! cranial neuron projection bundle

[Term]
id: MONDO:0003570
name: lipid-rich carcinoma
def: "A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma." [NCIT:C4152]
synonym: "lipid-rich carcinoma" EXACT [DOID:5658, NCIT:C4152]
synonym: "lipid-rich carcinoma (morphologic abnormality)" EXACT [DOID:5658]
xref: DOID:5658 {source="MONDO:equivalentTo"}
xref: ICDO:8314/3 {source="NCIT:C4152"}
xref: MEDGEN:137742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4152 {source="NCIT:C4152", source="DOID:5658", source="MONDO:equivalentTo"}
xref: SCTID:189655006 {source="DOID:5658"}
xref: SCTID:3839000 {source="DOID:5658"}
xref: UMLS:C0334318 {source="MEDGEN:137742", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="NCIT:C4152"} ! carcinoma

[Term]
id: MONDO:0003571
name: obsolete labyrinthine dysfunction
comment: This is considered a phenotype, hence it was obsoleted.
xref: DOID:566 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H83.2 {source="DOID:566", source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H83.2X {source="DOID:566"}
xref: ICD10CM:H83.2X9 {source="DOID:566"}
xref: ICD9:386.5 {source="DOID:566"}
xref: ICD9:386.50 {source="DOID:566", source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: ICD9:386.58 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: SCTID:194371000 {source="DOID:566"}
xref: SCTID:194378006 {source="DOID:566"}
xref: SCTID:5239005 {source="DOID:566", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/389" xsd:anyURI
is_obsolete: true
consider: HP:0000359
consider: MONDO:0002467

[Term]
id: MONDO:0003572
name: nasopharyngeal type undifferentiated carcinoma
def: "A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate." [NCIT:C4107]
subset: otar {source="MONDO:OTAR"}
synonym: "lymphoepithelial carcinoma" EXACT [DOID:5660, NCIT:C4107]
synonym: "lymphoepithelioma" EXACT [NCIT:C4107]
synonym: "lymphoepithelioma-like carcinoma" EXACT [DOID:5660, NCIT:C27387, NCIT:C4107]
synonym: "nasopharyngeal type undifferentiated carcinoma" EXACT [DOID:5660, NCIT:C4107]
synonym: "Schmincke tumor" EXACT [NCIT:C4107]
synonym: "Schmincke tumour" EXACT OMO:0003005 []
synonym: "Schminke tumor" EXACT [NCIT:C4107]
synonym: "Schminke tumour" EXACT OMO:0003005 []
xref: DOID:5660 {source="MONDO:equivalentTo"}
xref: ICDO:8082/3 {source="NCIT:C4107"}
xref: MEDGEN:87199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4107 {source="MONDO:equivalentTo", source="DOID:5660"}
xref: SCTID:7300000 {source="DOID:5660"}
xref: UMLS:C0334254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87199"}
is_a: MONDO:0004993 {source="DOID:5660", source="NCIT:C4107/inferred"} ! carcinoma
is_a: MONDO:0005232 {source="NCIT:C4107"} ! large cell carcinoma

[Term]
id: MONDO:0003573
name: pleomorphic carcinoma
def: "A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism." [NCIT:C4094]
synonym: "pleomorphic carcinoma" EXACT [NCIT:C4094]
synonym: "pleomorphic carcinoma (morphologic abnormality)" EXACT [DOID:5662]
xref: DOID:5662 {source="MONDO:equivalentTo"}
xref: ICDO:8022/3 {source="NCIT:C4094"}
xref: MEDGEN:87198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4094 {source="DOID:5662", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:16741004 {source="DOID:5662"}
xref: UMLS:C0334233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87198"}
is_a: MONDO:0004993 {source="DOID:5662", source="MONDO:Redundant", source="NCIT:C4094/inferred"} ! carcinoma
is_a: MONDO:0006406 {source="NCIT:C4094"} ! sarcomatoid carcinoma

[Term]
id: MONDO:0003574
name: external ear cancer
def: "A malignant neoplasm involving the external ear." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of external ear" EXACT [MONDO:patterns/cancer]
synonym: "external ear cancer" EXACT [MONDO:patterns/location]
synonym: "malignant external Ear neoplasm" EXACT [NCIT:C4653]
synonym: "malignant external ear neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant external Ear tumor" EXACT [NCIT:C4653]
synonym: "malignant external Ear tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of external Ear" EXACT [NCIT:C4653]
synonym: "malignant neoplasm of external ear" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the external Ear" EXACT [NCIT:C4653]
synonym: "malignant neoplasm of the external ear" EXACT [DOID:5665, NCIT:C4653]
synonym: "malignant tumor of external Ear" EXACT [NCIT:C4653]
synonym: "malignant tumor of the external Ear" EXACT [NCIT:C4653]
synonym: "malignant tumour of external Ear" EXACT OMO:0003005 []
synonym: "malignant tumour of the external Ear" EXACT OMO:0003005 []
xref: DOID:5665 {source="MONDO:equivalentTo"}
xref: MEDGEN:91157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4653 {source="DOID:5665", source="MONDO:equivalentTo"}
xref: SCTID:277156006 {source="DOID:5665", source="MONDO:equivalentTo"}
xref: UMLS:C0349576 {source="MEDGEN:91157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002776 {source="DOID:5665", source="MONDO:Redundant", source="NCIT:C4653/inferred"} ! external ear disorder
is_a: MONDO:0003277 {source="MONDO:Redundant", source="NCIT:C4653"} ! malignant ear neoplasm
is_a: MONDO:0021235 {source="MONDO:Redundant", source="NCIT:C4653"} ! external ear neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0003575
name: comedocarcinoma
def: "A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells." [NCIT:C4188]
synonym: "comedo carcinoma" EXACT [NCIT:C4188]
synonym: "Comedocarcinoma" EXACT [DOID:5670, NCIT:C4188]
xref: DOID:5670 {source="MONDO:equivalentTo"}
xref: ICDO:8501/3 {source="NCIT:C4188"}
xref: MEDGEN:90773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4188 {source="MONDO:equivalentTo", source="DOID:5670"}
xref: SCTID:189709000 {source="DOID:5670"}
xref: SCTID:36425007 {source="DOID:5670"}
xref: UMLS:C0334370 {source="MEDGEN:90773", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="NCIT:C4188"} ! carcinoma

[Term]
id: MONDO:0003576
name: obsolete MONDO:0003576
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005575

[Term]
id: MONDO:0003577
name: obsolete cribriform carcinoma
is_obsolete: true
replaced_by: MONDO:0006176

[Term]
id: MONDO:0003578
name: extragonadal nonseminomatous germ cell tumor
def: "A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "cancer of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "extragonadal non-seminomatous germ cell cancer" EXACT [NCIT:C8885]
synonym: "extragonadal primary Nonseminoma" EXACT [NCIT:C8885]
synonym: "malignant extragonadal non-seminomatous germ cell neoplasm" EXACT [NCIT:C8885]
synonym: "malignant extragonadal non-seminomatous germ cell tumor" EXACT [NCIT:C8885]
synonym: "malignant extragonadal non-seminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "malignant extragonadal Nonseminoma" EXACT [NCIT:C8885]
synonym: "malignant neoplasm of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "malignant neoplasm of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "malignant tumor of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "malignant tumor of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885]
synonym: "malignant tumour of extragonadal non-seminomatous germ cell" EXACT OMO:0003005 []
synonym: "malignant tumour of the extragonadal non-seminomatous germ cell" EXACT OMO:0003005 []
synonym: "primary malignant extragonadal Nonseminoma" EXACT [DOID:5677, NCIT:C8885]
xref: DOID:5677 {source="MONDO:equivalentTo"}
xref: MEDGEN:233662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8885 {source="DOID:5677", source="MONDO:equivalentTo"}
xref: UMLS:C1334582 {source="MEDGEN:233662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003113 {source="DOID:5677", source="MONDO:Redundant", source="NCIT:C8885"} ! extragonadal germ cell cancer
is_a: MONDO:0021656 {source="NCIT:C8885"} ! nongerminomatous germ cell tumor
intersection_of: MONDO:0003113 {source="NCIT:C8885"} ! extragonadal germ cell cancer
intersection_of: MONDO:0021656 {source="NCIT:C8885"} ! nongerminomatous germ cell tumor

[Term]
id: MONDO:0003579
name: retinal nerve fiber layer disorder
def: "A disease that involves the nerve fiber layer of retina." [MONDO:patterns/location]
synonym: "disease of nerve fiber layer of retina" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease of nerve fibre layer of retina" EXACT OMO:0003005 []
synonym: "disease or disorder of nerve fiber layer of retina" EXACT []
synonym: "disease or disorder of nerve fibre layer of retina" EXACT OMO:0003005 []
synonym: "disorder of nerve fiber layer of retina" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of nerve fibre layer of retina" EXACT OMO:0003005 []
synonym: "nerve fiber bundle defect" RELATED [DOID:5678]
synonym: "nerve fiber layer of retina disease" EXACT [MONDO:design_pattern]
synonym: "nerve fiber layer of retina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nerve fibre bundle defect" RELATED OMO:0003005 []
synonym: "nerve fibre layer of retina disease" EXACT OMO:0003005 []
synonym: "nerve fibre layer of retina disease or disorder" EXACT OMO:0003005 []
synonym: "retinal nerve fiber bundle defects" EXACT [DOID:5678, ICD9CM:362.85]
synonym: "retinal nerve fiber bundle deficiency" EXACT [DOID:5678]
synonym: "retinal nerve fibre bundle defects" EXACT OMO:0003005 []
synonym: "retinal nerve fibre bundle deficiency" EXACT OMO:0003005 []
xref: DOID:5678 {source="MONDO:equivalentTo"}
xref: ICD9:362.85 {source="DOID:5678"}
xref: MEDGEN:784046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193428001 {source="MONDO:equivalentTo"}
xref: SCTID:87194000 {source="DOID:5678"}
xref: UMLS:C3665426 {source="MEDGEN:784046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001834 {source="DOID:5678"} ! visual pathway disorder
is_a: MONDO:0005283 {source="DOID:5678", source="MONDO:Redundant"} ! retinal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001793 ! nerve fiber layer of retina

[Term]
id: MONDO:0003580
name: obsolete embryonal testis carcinoma
is_obsolete: true
replaced_by: MONDO:0006446

[Term]
id: MONDO:0003581
name: ovarian embryonal carcinoma
def: "An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." [NCIT:C8108]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "embryonal carcinoma" RELATED [ONCOTREE:OEC]
synonym: "embryonal carcinoma of ovary" EXACT [NCIT:C8108]
synonym: "embryonal carcinoma of the ovary" EXACT [DOID:5681, NCIT:C8108]
synonym: "ovarian embryonal carcinoma" EXACT [MONDO:0006334, NCIT:C8108]
synonym: "ovary embryonal carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5681 {source="MONDO:equivalentTo"}
xref: EFO:1000415 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8108 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5681", source="EFO:1000415"}
xref: ONCOTREE:OEC {source="MONDO:equivalentTo"}
xref: SCTID:254872007 {source="MONDO:equivalentTo", source="DOID:5681"}
xref: UMLS:C0346183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91090"}
is_a: MONDO:0005440 {source="DOID:5681", source="EFO:1000415", source="MONDO:Redundant", source="NCIT:C8108"} ! embryonal carcinoma
is_a: MONDO:0011366 {source="MONDO:Redundant", source="NCIT:C8108/inferred", source="ONCOTREE:OEC"} ! ovarian germ cell tumor
is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C8108"} ! malignant non-dysgerminomatous germ cell tumor of ovary
is_a: MONDO:0018171 {source="MONDO:Redundant", source="NCIT:C8108/inferred"} ! malignant germ cell tumor of ovary
intersection_of: MONDO:0005440 ! embryonal carcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003582
name: hereditary breast ovarian cancer syndrome
def: "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." [NCIT:C8493]
subset: gard_rare {source="GARD:15010", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1936", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:145"}
subset: orphanet_rare {source="Orphanet:145"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer" EXACT [DOID:5683]
synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)" EXACT [DOID:5683]
synonym: "familial breast and ovarian cancer syndrome" EXACT [NCIT:C8493]
synonym: "familial breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493]
synonym: "HBOC syndrome" RELATED [MESH:D061325]
synonym: "HBOC syndromes" RELATED [MESH:D061325]
synonym: "hereditary breast and ovarian cancer" EXACT [NCIT:C8493]
synonym: "Hereditary Breast and Ovarian Cancer Syndrome" EXACT [NORD:1936]
synonym: "hereditary breast and ovarian cancer syndrome" EXACT [MONDO:0015442, NCIT:C8493]
synonym: "hereditary breast ovarian cancer" RELATED [DOID:5683]
synonym: "hereditary breast ovarian cancer syndrome" EXACT CLINGEN_LABEL []
synonym: "hereditary breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493]
synonym: "syndrome, HBOC" RELATED [MESH:D061325]
synonym: "syndromes, HBOC" RELATED [MESH:D061325]
xref: DOID:5683 {source="MONDO:equivalentTo"}
xref: GARD:15010 {source="MONDO:GARD"}
xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:145/nd", source="Orphanet:145/attributed", source="Orphanet:145"}
xref: ICD10CM:C56 {source="Orphanet:145/nd", source="Orphanet:145/attributed", source="Orphanet:145"}
xref: icd11.foundation:1258896144 {source="MONDO:equivalentTo", source="Orphanet:145", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:151793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D061325 {source="MONDO:equivalentTo", source="DOID:5683"}
xref: NCIT:C8493 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5683"}
xref: NORD:1936 {source="MONDO:NORD"}
xref: Orphanet:145 {source="MONDO:equivalentTo"}
xref: SCTID:718220008 {source="MONDO:equivalentTo"}
xref: UMLS:C0677776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:151793"}
is_a: MONDO:0000426 {source="DOID:5683", source="MONDO:Redundant", source="NCIT:C8493-def"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:D061325", source="NCIT:C8493", source="Orphanet:145"} ! hereditary neoplastic syndrome
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: disease_has_feature MONDO:0004379 {source="NCIT:C8493"} ! female breast carcinoma
relationship: disease_has_feature MONDO:0005140 {source="NCIT:C8493"} ! ovarian carcinoma
relationship: excluded_subClassOf MONDO:0015870 {source="Orphanet:145", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare malignant breast tumor
relationship: excluded_subClassOf MONDO:0016248 {source="Orphanet:145", source="https://orcid.org/0000-0001-5208-3432"} ! familial ovarian cancer
relationship: excluded_subClassOf MONDO:0016419 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast carcinoma
relationship: has_characteristic HP:0000006 {source="Orphanet:145"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604370"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/84" xsd:anyURI

[Term]
id: MONDO:0003583
name: obsolete atypical lipomatous tumor
is_obsolete: true
replaced_by: MONDO:0006097

[Term]
id: MONDO:0003584
name: visual cortex disorder
def: "A disease involving the visual cortex." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of visual cortex" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of visual cortex" EXACT []
synonym: "disorder of visual cortex" EXACT [MONDO:patterns/location_top]
synonym: "visual cortex disease" EXACT [MONDO:patterns/location]
synonym: "visual cortex disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "visual cortex disorder" EXACT []
synonym: "visual cortex dysfunction" EXACT [DOID:5691]
xref: DOID:5691 {source="MONDO:equivalentTo"}
xref: ICD10CM:H47.6 {source="MONDO:equivalentTo", source="DOID:5691"}
xref: ICD9:377.7 {source="DOID:5691"}
xref: MEDGEN:66699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35275 {source="DOID:5691", source="MONDO:directSiblingOf"}
xref: SCTID:128329001 {source="MONDO:equivalentTo", source="DOID:5691"}
xref: SCTID:194071005 {source="DOID:5691"}
xref: SCTID:86492004 {source="DOID:5691"}
xref: UMLS:C0234398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66699"}
is_a: MONDO:0001834 {source="DOID:5691"} ! visual pathway disorder
is_a: MONDO:0021084 {source="NCIT:C35275"} ! vision disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000411 ! visual cortex

[Term]
id: MONDO:0003585
name: adult liposarcoma
def: "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." [NCIT:C7811]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult liposarcoma" EXACT [NCIT:C7811]
synonym: "liposarcoma" BROAD [NCIT:C7811]
synonym: "liposarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5693 {source="MONDO:equivalentTo"}
xref: MEDGEN:75842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200065 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7811 {source="MONDO:equivalentTo", source="DOID:5693"}
xref: UMLS:C0278608 {source="MEDGEN:75842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="DOID:5693", source="MONDO:Redundant", source="NCIT:C7811"} ! liposarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003586
name: esophagus liposarcoma
def: "A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophageal liposarcoma" EXACT [NCIT:C5705]
synonym: "esophagus liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5705]
synonym: "liposarcoma of esophagus" EXACT [DOID:5694, NCIT:C5705]
synonym: "liposarcoma of oesophagus" EXACT OMO:0003005 []
synonym: "liposarcoma of the esophagus" EXACT [NCIT:C5705]
synonym: "liposarcoma of the oesophagus" EXACT OMO:0003005 []
xref: DOID:5694 {source="MONDO:equivalentTo"}
xref: MEDGEN:232163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5705 {source="MONDO:equivalentTo", source="DOID:5694"}
xref: UMLS:C1333456 {source="MEDGEN:232163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001204 {source="DOID:5694", source="MONDO:Redundant", source="NCIT:C5705"} ! esophagus sarcoma
is_a: MONDO:0005060 {source="DOID:5694", source="MONDO:Redundant", source="NCIT:C5705"} ! liposarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0003587
name: pediatric liposarcoma
def: "A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood liposarcoma" EXACT [NCIT:C8091]
synonym: "liposarcoma" BROAD [NCIT:C8091]
synonym: "pediatric liposarcoma" EXACT [NCIT:C8091]
xref: DOID:5695 {source="MONDO:equivalentTo"}
xref: MEDGEN:83580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200065 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8091 {source="DOID:5695", source="MONDO:equivalentTo"}
xref: UMLS:C0279984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83580"}
is_a: MONDO:0005060 {source="DOID:5695", source="NCIT:C8091"} ! liposarcoma
is_a: MONDO:0006517 {source="NCIT:C8091"} ! childhood malignant neoplasm
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003588
name: larynx liposarcoma
def: "A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "laryngeal liposarcoma" EXACT [NCIT:C6021]
synonym: "larynx liposarcoma" EXACT [MONDO:patterns/location]
synonym: "lip larynx sarcoma" EXACT [MONDO:patterns/location]
synonym: "liposarcoma of larynx" EXACT [DOID:5696, NCIT:C6021]
synonym: "liposarcoma of the larynx" EXACT [NCIT:C6021]
xref: DOID:5696 {source="MONDO:equivalentTo"}
xref: MEDGEN:235252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6021 {source="DOID:5696", source="MONDO:equivalentTo"}
xref: UMLS:C1334372 {source="MEDGEN:235252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002448 {source="DOID:5696", source="MONDO:Redundant", source="NCIT:C6021"} ! laryngeal sarcoma
is_a: MONDO:0005060 {source="DOID:5696", source="MONDO:Redundant", source="NCIT:C6021"} ! liposarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0003589
name: liposarcoma of the ovary
def: "A malignant adipose tissue neoplasm of the ovary." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "liposarcoma of ovary" EXACT [DOID:5697, NCIT:C6419]
synonym: "ovarian liposarcoma" EXACT [NCIT:C6419]
synonym: "ovary liposarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5697 {source="MONDO:equivalentTo"}
xref: MEDGEN:233808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6419 {source="DOID:5697", source="MONDO:equivalentTo"}
xref: UMLS:C1335165 {source="MEDGEN:233808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002225 {source="DOID:5697", source="MONDO:Redundant", source="NCIT:C6419"} ! ovarian sarcoma
is_a: MONDO:0005060 {source="DOID:5697", source="MONDO:Redundant", source="NCIT:C6419"} ! liposarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003590
name: fibroblastic liposarcoma
def: "A liposarcoma characterized by the presence of a fibroblastic component." [NCIT:C6509]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fibroblastic liposarcoma" EXACT [DOID:5698, NCIT:C6509]
synonym: "fibroblastic liposarcoma (morphologic abnormality)" EXACT [DOID:5698]
xref: DOID:5698 {source="MONDO:equivalentTo"}
xref: ICDO:8857/3 {source="NCIT:C6509"}
xref: MEDGEN:266103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6509 {source="DOID:5698", source="MONDO:equivalentTo"}
xref: SCTID:128883006 {source="DOID:5698"}
xref: UMLS:C1266130 {source="MEDGEN:266103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="DOID:5698"} ! liposarcoma

[Term]
id: MONDO:0003591
name: kidney liposarcoma
def: "A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis." [NCIT:C6185]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "kidney liposarcoma" EXACT [MONDO:patterns/location, NCIT:C6185]
synonym: "liposarcoma of kidney" EXACT [DOID:5699, NCIT:C6185]
synonym: "liposarcoma of the kidney" EXACT [NCIT:C6185]
synonym: "renal liposarcoma" EXACT [NCIT:C6185]
xref: DOID:5699 {source="MONDO:equivalentTo"}
xref: MEDGEN:235546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6185 {source="DOID:5699", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235546"}
is_a: MONDO:0002930 {source="DOID:5699", source="MONDO:Redundant", source="NCIT:C6185"} ! kidney sarcoma
is_a: MONDO:0005060 {source="DOID:5699", source="MONDO:Redundant", source="NCIT:C6185"} ! liposarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0003592
name: gastric liposarcoma
def: "A malignant adipose tissue neoplasm of the stomach." [NCIT:C5488]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gastric liposarcoma" EXACT [NCIT:C5488]
synonym: "liposarcoma of stomach" EXACT [NCIT:C5488]
synonym: "liposarcoma of the stomach" EXACT [DOID:5700, NCIT:C5488]
synonym: "stomach liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5488]
xref: DOID:5700 {source="MONDO:equivalentTo"}
xref: MEDGEN:272663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5488 {source="DOID:5700", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272663"}
is_a: MONDO:0001056 {source="DOID:5700", source="MONDO:Redundant", source="NCIT:C5488/inferred"} ! gastric cancer
is_a: MONDO:0005060 {source="MONDO:Redundant", source="NCIT:C5488"} ! liposarcoma
is_a: MONDO:0018078 {source="MONDO:Redundant", source="NCIT:C5488"} ! soft tissue sarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0003593
name: breast liposarcoma
def: "A malignant adipose tissue neoplasm of the breast." [NCIT:C5187]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5187]
synonym: "liposarcoma of breast" EXACT [NCIT:C5187]
synonym: "liposarcoma of the breast" EXACT [DOID:5701, NCIT:C5187]
xref: DOID:5701 {source="MONDO:equivalentTo"}
xref: MEDGEN:231968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5187 {source="MONDO:equivalentTo", source="DOID:5701", source="MONDO:exact-label-match"}
xref: UMLS:C1332632 {source="MEDGEN:231968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002490 {source="DOID:5701", source="MONDO:Redundant", source="NCIT:C5187"} ! breast sarcoma
is_a: MONDO:0005060 {source="DOID:5701", source="MONDO:Redundant", source="NCIT:C5187"} ! liposarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003594
name: mixed liposarcoma
def: "A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma." [NCIT:C4253]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mixed liposarcoma" EXACT [NCIT:C4253]
synonym: "mixed liposarcoma (morphologic abnormality)" EXACT [DOID:5703]
xref: DOID:5703 {source="MONDO:equivalentTo"}
xref: ICDO:8855/3 {source="NCIT:C4253"}
xref: MEDGEN:87249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4253 {source="MONDO:equivalentTo", source="DOID:5703", source="MONDO:exact-label-match"}
xref: SCTID:11073003 {source="DOID:5703"}
xref: UMLS:C0334472 {source="MEDGEN:87249", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="DOID:5703", source="NCIT:C4253"} ! liposarcoma

[Term]
id: MONDO:0003595
name: sclerosing liposarcoma
def: "A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:5704 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6507 {source="MONDO:equivalentTo", source="DOID:5704"}
xref: SCTID:28655007 {source="DOID:5704"}
xref: SCTID:404068003 {source="MONDO:equivalentTo", source="DOID:5704"}
xref: UMLS:C0334469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137767"}
is_a: MONDO:0005103 {source="NCIT:C6507"} ! well-differentiated liposarcoma
relationship: excluded_subClassOf MONDO:0006097 {source="DOID:5704", source="https://orcid.org/0000-0001-5208-3432"} ! atypical lipomatous tumor

[Term]
id: MONDO:0003596
name: spindle cell liposarcoma
def: "A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma." [NCIT:C27489]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "spindle cell liposarcoma" EXACT [NCIT:C27489]
xref: DOID:5705 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27489 {source="MONDO:equivalentTo", source="DOID:5705", source="MONDO:exact-label-match"}
xref: SCTID:404073009 {source="MONDO:equivalentTo", source="DOID:5705"}
xref: UMLS:C1275275 {source="MEDGEN:266156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005103 {source="NCIT:C27489"} ! well-differentiated liposarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell
relationship: excluded_subClassOf MONDO:0006097 {source="DOID:5705", source="https://orcid.org/0000-0001-5208-3432"} ! atypical lipomatous tumor

[Term]
id: MONDO:0003597
name: obsolete MONDO:0003597
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013280

[Term]
id: MONDO:0003598
name: median nerve neuropathy
def: "Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome)." [MESH:D020423]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "median nerve palsy" RELATED []
synonym: "median nerve peripheral neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "median neuropathy" EXACT []
synonym: "peripheral neuropathy of median nerve" EXACT [MONDO:design_pattern]
xref: DOID:571 {source="MONDO:equivalentTo"}
xref: ICD10CM:G56.1 {source="DOID:571"}
xref: ICD10CM:G56.10 {source="DOID:571"}
xref: ICD9:354.1 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:571"}
xref: MEDGEN:199766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020423 {source="MONDO:equivalentTo"}
xref: SCTID:193127001 {source="DOID:571"}
xref: SCTID:194512000 {source="DOID:571"}
xref: SCTID:397828008 {source="MONDO:equivalentTo"}
xref: UMLS:C0751922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199766"}
is_a: MONDO:0005244 {source="DOID:571/inferred", source="MONDO:Redundant"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_has_location UBERON:0001148 ! median nerve
relationship: excluded_subClassOf MONDO:0003607 {source="DOID:571", source="https://orcid.org/0000-0001-5208-3432"} ! neuritis of upper limb

[Term]
id: MONDO:0003599
name: vulvar liposarcoma
def: "A rare malignant adipose tissue neoplasm of the vulva." [NCIT:C40321]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "liposarcoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva liposarcoma" EXACT [MONDO:patterns/location]
synonym: "vulvar liposarcoma" EXACT [NCIT:C40321]
xref: DOID:5711 {source="MONDO:equivalentTo"}
xref: MEDGEN:412161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40321 {source="DOID:5711", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C2184082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412161"}
is_a: MONDO:0005060 {source="DOID:5711", source="MONDO:Redundant", source="NCIT:C40321"} ! liposarcoma
is_a: MONDO:0005214 {source="DOID:5711", source="MONDO:Redundant", source="NCIT:C40321"} ! vulva sarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0003600
name: cutaneous liposarcoma
def: "A malignant adipose tissue neoplasm of the skin." [NCIT:C5615]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous liposarcoma" EXACT [NCIT:C5615]
synonym: "liposarcoma of skin" EXACT [NCIT:C5615]
synonym: "liposarcoma of the skin" EXACT [DOID:5712, NCIT:C5615]
synonym: "liposarcoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "skin liposarcoma" EXACT [NCIT:C5615]
synonym: "zone of skin liposarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5712 {source="MONDO:equivalentTo"}
xref: MEDGEN:232398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5615 {source="MONDO:equivalentTo", source="DOID:5712", source="MONDO:exact-label-match"}
xref: UMLS:C1333175 {source="MONDO:equivalentTo", source="MEDGEN:232398", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="DOID:5712", source="MONDO:Redundant", source="NCIT:C5615"} ! liposarcoma
is_a: MONDO:0006414 {source="DOID:5712", source="MONDO:Redundant", source="NCIT:C5615"} ! skin sarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0003601
name: mediastinum liposarcoma
def: "A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lip mediastinum sarcoma" EXACT [MONDO:patterns/location]
synonym: "liposarcoma of mediastinum" EXACT [DOID:5713, NCIT:C6614]
synonym: "liposarcoma of the mediastinum" EXACT [NCIT:C6614]
synonym: "mediastinal liposarcoma" EXACT [NCIT:C6614]
synonym: "mediastinum liposarcoma" EXACT [MONDO:patterns/location]
xref: DOID:5713 {source="MONDO:equivalentTo"}
xref: MEDGEN:233683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6614 {source="DOID:5713", source="MONDO:equivalentTo"}
xref: UMLS:C1334663 {source="MEDGEN:233683", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002852 {source="DOID:5713", source="MONDO:Redundant", source="NCIT:C6614"} ! mediastinum sarcoma
is_a: MONDO:0005060 {source="DOID:5713", source="MONDO:Redundant", source="NCIT:C6614"} ! liposarcoma
intersection_of: MONDO:0005060 ! liposarcoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0003602
name: intracranial liposarcoma
def: "A malignant adipose tissue neoplasm of the intracranial region." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:5714 {source="MONDO:equivalentTo"}
xref: MEDGEN:232663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6973 {source="MONDO:equivalentTo", source="DOID:5714"}
xref: UMLS:C1334242 {source="MEDGEN:232663", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="DOID:5714", source="NCIT:C6973"} ! liposarcoma

[Term]
id: MONDO:0003603
name: non-functioning pituitary gland neoplasm
def: "A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome." [NCIT:C4009]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design_pattern]
synonym: "non-functioning neoplasm of pituitary" EXACT [NCIT:C4009]
synonym: "non-functioning neoplasm of pituitary gland" EXACT [NCIT:C4009]
synonym: "non-functioning neoplasm of the pituitary" EXACT [NCIT:C4009]
synonym: "non-functioning neoplasm of the pituitary gland" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary gland neoplasm" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary gland tumor" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary gland tumour" EXACT OMO:0003005 []
synonym: "non-functioning pituitary neoplasm" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary tumor" EXACT [NCIT:C4009]
synonym: "non-functioning pituitary tumour" EXACT OMO:0003005 []
synonym: "non-functioning tumor of pituitary" EXACT [NCIT:C4009]
synonym: "non-functioning tumor of pituitary gland" EXACT [NCIT:C4009]
synonym: "non-functioning tumor of the pituitary" EXACT [NCIT:C4009]
synonym: "non-functioning tumor of the pituitary gland" EXACT [NCIT:C4009]
synonym: "non-functioning tumour of pituitary" EXACT OMO:0003005 []
synonym: "non-functioning tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "non-functioning tumour of the pituitary" EXACT OMO:0003005 []
synonym: "non-functioning tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "nonfunctional pituitary gland neoplasm" EXACT [NCIT:C4009]
synonym: "Nonfunctioning pituitary tumor" EXACT [NCIT:C4009]
synonym: "Nonfunctioning pituitary tumour" EXACT OMO:0003005 []
synonym: "pituitary gland non-functioning endocrine neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:756062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4009 {source="MONDO:equivalentObsolete", source="DOID:5715"}
xref: SCTID:448563005 {source="MONDO:equivalentTo"}
xref: UMLS:C3163649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:756062"}
is_a: MONDO:0003381 {source="NCIT:C4009/inferred"} ! pituitary gland disorder
is_a: MONDO:0021119 {source="MONDO:Redundant", source="NCIT:C4009"} ! non-functioning endocrine neoplasm
intersection_of: MONDO:0021119 ! non-functioning endocrine neoplasm
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
disjoint_from: MONDO:0003604 ! functioning pituitary gland neoplasm

[Term]
id: MONDO:0003604
name: functioning pituitary gland neoplasm
def: "A hormone producing pituitary gland tumor, associated with a hormonal syndrome." [NCIT:C7047]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design_pattern]
synonym: "functioning pituitary gland neoplasm" EXACT [NCIT:C7047]
synonym: "functioning pituitary neoplasm" EXACT []
synonym: "functioning pituitary tumor" RELATED []
synonym: "functioning pituitary tumour" RELATED OMO:0003005 []
synonym: "growth hormone producing pituitary tumor" RELATED EXCLUDE [DOID:5716]
synonym: "growth hormone producing pituitary tumour" RELATED OMO:0003005 []
synonym: "hormone producing pituitary cancer" RELATED [DOID:5716]
synonym: "hormone producing pituitary neoplasm" EXACT [NCIT:C7047]
synonym: "pituitary gland functioning endocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "pituitary neoplasms, hormone producing" EXACT [NCIT:C7047]
synonym: "pituitary tumors, hormone producing" EXACT [DOID:5716, NCIT:C7047]
synonym: "secretory pituitary tumor" RELATED []
synonym: "secretory pituitary tumour" RELATED OMO:0003005 []
synonym: "somatotropinoma" RELATED [DOID:5716, NCIT:C7911]
xref: DOID:5716 {source="MONDO:equivalentTo"}
xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7047 {source="MONDO:equivalentObsolete", source="DOID:5716"}
xref: NCIT:C7911 {source="DOID:5716"}
xref: SCTID:448148000 {source="MONDO:equivalentTo"}
xref: UMLS:C0851693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163414"}
is_a: MONDO:0003381 {source="DOID:5716/inferred", source="MONDO:Entailed", source="NCIT:C7047/inferred"} ! pituitary gland disorder
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C7047/inferred"} ! central nervous system neoplasm
is_a: MONDO:0021120 {source="MONDO:Redundant", source="NCIT:C7047"} ! functioning endocrine neoplasm
is_a: MONDO:0021211 {source="MONDO:Entailed", source="NCIT:C7047/inferred"} ! brain neoplasm
intersection_of: MONDO:0021120 ! functioning endocrine neoplasm
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
relationship: excluded_subClassOf MONDO:0002109 {source="https://orcid.org/0000-0001-5208-3432"} ! pituitary cancer

[Term]
id: MONDO:0003605
name: obsolete adrenal neuroblastoma
def: "OBSOLETE. A neuroblastoma arising from the adrenal gland." [NCIT:C4827]
is_obsolete: true
replaced_by: MONDO:0006076

[Term]
id: MONDO:0003606
name: adrenal medulla cancer
def: "A malignant neoplasm involving the adrenal medulla" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:5755", source="MONDO:GARD"}
subset: rare
synonym: "adrenal medulla cancer" EXACT [MONDO:patterns/location]
synonym: "adrenal medulla neoplasm" BROAD [DOID:5719]
synonym: "adrenal medulla tumor" BROAD [DOID:5719]
synonym: "adrenal medulla tumour" BROAD OMO:0003005 []
synonym: "cancer of adrenal medulla" EXACT [MONDO:patterns/cancer]
synonym: "malignant adrenal medulla neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4396]
synonym: "malignant adrenal medulla tumor" EXACT [NCIT:C4396]
synonym: "malignant adrenal medulla tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of adrenal medulla" EXACT [DOID:5719, MONDO:patterns/cancer, NCIT:C4396]
synonym: "malignant neoplasm of the adrenal medulla" EXACT [NCIT:C4396]
synonym: "malignant tumor of adrenal medulla" EXACT [NCIT:C4396]
synonym: "malignant tumor of the adrenal medulla" EXACT [DOID:5719, NCIT:C4396]
synonym: "malignant tumour of adrenal medulla" EXACT OMO:0003005 []
synonym: "malignant tumour of the adrenal medulla" EXACT OMO:0003005 []
xref: DOID:5719 {source="MONDO:equivalentTo"}
xref: GARD:5755 {source="MONDO:GARD"}
xref: ICD10CM:C74.1 {source="DOID:5719"}
xref: MEDGEN:87485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4396 {source="MONDO:equivalentTo", source="DOID:5719"}
xref: NCIT:C4856 {source="DOID:5719"}
xref: SCTID:127023007 {source="DOID:5719"}
xref: SCTID:363480001 {source="DOID:5719"}
xref: SCTID:371965009 {source="MONDO:equivalentTo", source="DOID:5719"}
xref: SCTID:93666006 {source="DOID:5719"}
xref: UMLS:C0344456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87485"}
is_a: MONDO:0002817 {source="DOID:5719", source="MONDO:Redundant", source="NCIT:C4396"} ! adrenal gland cancer
is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C4396"} ! adrenal medulla neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001236 ! adrenal medulla
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer" xsd:anyURI {source="GARD:0005755"}

[Term]
id: MONDO:0003607
name: neuritis of upper limb
def: "A neuritis that involves the forelimb." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "forelimb neuritis" EXACT [MONDO:patterns/location]
synonym: "neuritis of forelimb" EXACT []
xref: DOID:572 {source="MONDO:equivalentTo"}
xref: ICD9:354 {source="DOID:572"}
xref: MEDGEN:509640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155072002 {source="DOID:572"}
xref: SCTID:193125009 {source="DOID:572"}
xref: UMLS:C0154741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509640"}
intersection_of: MONDO:0002122 ! neuritis
intersection_of: disease_has_location UBERON:0002102 ! forelimb
relationship: excluded_subClassOf MONDO:0002121 {source="DOID:572", source="https://orcid.org/0000-0001-5208-3432"} ! mononeuritis simplex

[Term]
id: MONDO:0003608
name: optic atrophy
def: "A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "atrophy of optic disc" EXACT OMO:0003005 []
synonym: "atrophy of optic disk" EXACT [DOID:5723]
xref: DOID:5723 {source="MONDO:equivalentTo"}
xref: ICD10CM:H47.2 {source="MONDO:equivalentTo", source="DOID:5723"}
xref: ICD10CM:H47.20 {source="DOID:5723"}
xref: ICD9:377.1 {source="DOID:5723"}
xref: ICD9:377.10 {source="MONDO:equivalentTo", source="DOID:5723", source="MONDO:i2s"}
xref: MEDGEN:18180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009896 {source="MONDO:equivalentTo", source="DOID:5723"}
xref: NCIT:C34863 {source="MONDO:equivalentTo", source="DOID:5723"}
xref: Orphanet:98673 {source="DOID:5723"}
xref: SCTID:155188004 {source="DOID:5723"}
xref: SCTID:194042009 {source="DOID:5723"}
xref: SCTID:194046007 {source="DOID:5723"}
xref: SCTID:267742001 {source="DOID:5723"}
xref: SCTID:76976005 {source="MONDO:equivalentTo", source="DOID:5723"}
xref: UMLS:C0029124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18180"}
is_a: MONDO:0002135 {source="DOID:5723", source="MESH:D009896"} ! optic nerve disorder

[Term]
id: MONDO:0003609
name: seminal vesicle cystadenoma
def: "A rare benign cystadenoma that arises from the seminal vesicle." [NCIT:C39907]
synonym: "seminal vesicle cystadenoma" EXACT [MONDO:patterns/location, NCIT:C39907]
xref: DOID:5724 {source="MONDO:equivalentTo"}
xref: MEDGEN:274209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39907 {source="DOID:5724", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519234 {source="MEDGEN:274209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002369 {source="DOID:5724", source="MONDO:Redundant", source="NCIT:C39907"} ! cystadenoma
is_a: MONDO:0002790 {source="DOID:5724", source="MONDO:Redundant", source="NCIT:C39907"} ! seminal vesicle tumor
intersection_of: MONDO:0002369 ! cystadenoma
intersection_of: disease_has_location UBERON:0000998 ! seminal vesicle

[Term]
id: MONDO:0003610
name: rete ovarii cystadenoma
def: "An exceptionally rare cystadenoma that arises from the rete ovarii." [NCIT:P378]
synonym: "rete ovarii cystadenoma" EXACT [MONDO:patterns/location]
xref: DOID:5725 {source="MONDO:equivalentTo"}
xref: MEDGEN:308160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40019 {source="MONDO:equivalentTo", source="DOID:5725"}
xref: UMLS:C1514907 {source="MEDGEN:308160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002369 {source="DOID:5725", source="MONDO:Redundant", source="NCIT:C40019"} ! cystadenoma
is_a: MONDO:0004005 {source="DOID:5725", source="MONDO:Redundant", source="NCIT:C40019"} ! rete ovarii adenoma
intersection_of: MONDO:0002369 ! cystadenoma
intersection_of: disease_has_location UBERON:0010185 ! rete ovarii

[Term]
id: MONDO:0003611
name: uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease
def: "A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences." [NCIT:C40142]
synonym: "uterine ligament papillary cystadenoma" RELATED [DOID:5726]
synonym: "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" EXACT [NCIT:C40142]
xref: DOID:5726 {source="MONDO:equivalentTo"}
xref: MEDGEN:770964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40142 {source="MONDO:equivalentTo", source="DOID:5726"}
xref: UMLS:C3642324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:770964"}
is_a: MONDO:0021091 {source="MONDO:Redundant", source="NCIT:C40142"} ! papillary cystadenoma
is_a: MONDO:0021629 {source="MONDO:Redundant", source="NCIT:C40142/inferred"} ! uterine ligament neoplasm
intersection_of: MONDO:0021091 ! papillary cystadenoma
intersection_of: disease_arises_from_feature MONDO:0008667 ! von Hippel-Lindau disease
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0003612
name: uterine ligament cancer
def: "A primary or metastatic malignant neoplasm that affects the uterine ligament." [NCIT:C126498]
synonym: "cancer of uterine ligament" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of uterine ligament" EXACT [MONDO:patterns/cancer]
synonym: "malignant uterine ligament neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C126498]
synonym: "tumor of the uterine ligament" RELATED EXCLUDE [DOID:5727]
synonym: "tumour of the uterine ligament" RELATED OMO:0003005 []
synonym: "uterine ligament cancer" EXACT [MONDO:patterns/location]
xref: DOID:5727 {source="MONDO:equivalentTo"}
xref: MEDGEN:923070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126498 {source="MONDO:equivalentTo"}
xref: NCIT:C40133 {source="DOID:5727"}
xref: UMLS:C0864950 {source="MEDGEN:923070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001416 {source="DOID:5727/inferred", source="MONDO:Redundant", source="NCIT:C126498"} ! female reproductive organ cancer
is_a: MONDO:0002715 {source="DOID:5727", source="MONDO:Redundant", source="MONDO:indirect"} ! uterine cancer
is_a: MONDO:0021629 {source="MONDO:Redundant", source="NCIT:C126498"} ! uterine ligament neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0003613
name: obsolete diffuse peritoneal leiomyomatosis
is_obsolete: true
replaced_by: MONDO:0006183

[Term]
id: MONDO:0003614
name: intravenous leiomyomatosis
def: "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins." [NCIT:C4518]
synonym: "intravenous leiomyomatosis" EXACT [DOID:5729, NCIT:C4518]
xref: DOID:5729 {source="MONDO:equivalentTo"}
xref: ICD9:238.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4518 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5729"}
xref: NCIT:C5356 {source="DOID:5729"}
xref: SCTID:254883003 {source="MONDO:equivalentTo", source="DOID:5729"}
xref: UMLS:C0346200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83417"}
is_a: MONDO:0003295 {source="DOID:5729", source="NCIT:C4518"} ! leiomyomatosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10802/intravenous-leiomyomatosis" xsd:anyURI {source="GARD:0010802"}

[Term]
id: MONDO:0003615
name: nerve compression syndrome
def: "Any nerve disorder caused by the entrapment and compression of a nerve." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "compression neuropathy" EXACT [DOID:573]
synonym: "entrapment neuropathy" EXACT [DOID:573, NCIT:C27221]
synonym: "peripheral nerve entrapment syndrome" EXACT [DOID:573]
xref: DOID:573 {source="MONDO:equivalentTo"}
xref: EFO:0009487 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:266933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009408 {source="MONDO:equivalentTo", source="DOID:573"}
xref: NCIT:C27221 {source="MONDO:equivalentTo", source="DOID:573"}
xref: SCTID:155085004 {source="DOID:573"}
xref: SCTID:45781009 {source="MONDO:equivalentTo", source="DOID:573"}
xref: UMLS:C1510429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266933"}
is_a: MONDO:0003620 {source="DOID:573", source="MESH:D009408", source="MONDO:0003615/inferred", source="MONDO:Redundant", source="NCIT:C27221/inferred"} ! peripheral nervous system disorder
is_a: MONDO:0005244 {source="NCIT:C27221"} ! peripheral neuropathy

[Term]
id: MONDO:0003616
name: salpingitis isthmica nodosa
def: "Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy." [NCIT:P378]
xref: DOID:5730 {source="MONDO:equivalentTo"}
xref: MEDGEN:82840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40119 {source="DOID:5730", source="MONDO:equivalentTo"}
xref: SCTID:36742000 {source="DOID:5730", source="MONDO:equivalentTo"}
xref: UMLS:C0269043 {source="MEDGEN:82840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003617 {source="DOID:5730"} ! chronic salpingitis
is_a: MONDO:0003619 {source="DOID:5730/inferred", source="MONDO:Redundant", source="NCIT:C40119"} ! salpingitis

[Term]
id: MONDO:0003617
name: chronic salpingitis
def: "Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack." [NCIT:P378]
synonym: "salpingitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:5731 {source="MONDO:equivalentTo"}
xref: ICD10CM:N70.11 {source="DOID:5731", source="MONDO:equivalentTo"}
xref: MEDGEN:82839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40118 {source="DOID:5731", source="MONDO:equivalentTo"}
xref: SCTID:55551005 {source="DOID:5731", source="MONDO:equivalentTo"}
xref: UMLS:C0269041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82839"}
is_a: MONDO:0003619 {source="DOID:5731", source="MONDO:Redundant", source="NCIT:C40118"} ! salpingitis
intersection_of: MONDO:0003619 ! salpingitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0003618
name: pyosalpinx
def: "The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain." [NCIT:P378]
synonym: "pyosalpingitis" EXACT [DOID:5732]
xref: DOID:5732 {source="MONDO:equivalentTo"}
xref: ICD10CM:N70 {source="DOID:5732"}
xref: MEDGEN:18785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34968 {source="DOID:5732", source="MONDO:equivalentTo"}
xref: SCTID:155974004 {source="DOID:5732"}
xref: SCTID:266651008 {source="DOID:5732"}
xref: SCTID:35263009 {source="DOID:5732"}
xref: SCTID:397810006 {source="DOID:5732", source="MONDO:equivalentTo"}
xref: SCTID:9400007 {source="DOID:5732"}
xref: UMLS:C0034220 {source="MONDO:equivalentTo", source="MEDGEN:18785", source="MONDO:MEDGEN"}
is_a: MONDO:0003619 {source="DOID:5732"} ! salpingitis

[Term]
id: MONDO:0003619
name: salpingitis
def: "Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fallopian tube inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of fallopian tube" EXACT []
xref: DOID:5733 {source="MONDO:equivalentTo"}
xref: ICD10CM:N70.91 {source="DOID:5733"}
xref: MEDGEN:20646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012488 {source="DOID:5733", source="MONDO:equivalentTo"}
xref: NCIT:C26880 {source="DOID:5733", source="MONDO:equivalentTo"}
xref: SCTID:155968004 {source="DOID:5733"}
xref: SCTID:198151009 {source="DOID:5733"}
xref: SCTID:266648001 {source="DOID:5733"}
xref: SCTID:88157006 {source="DOID:5733", source="MONDO:equivalentTo"}
xref: UMLS:C0036130 {source="MEDGEN:20646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002156 {source="DOID:5733", source="MESH:D012488", source="MONDO:Redundant", source="NCIT:C26880/inferred"} ! fallopian tube disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C26880/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003620
name: peripheral nervous system disorder
def: "A disease involving the peripheral nervous system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of peripheral nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of peripheral nervous system" EXACT []
synonym: "disorder of peripheral nervous system" EXACT [MONDO:patterns/location_top, NCIT:C27580]
synonym: "disorder of the peripheral nervous system" EXACT []
synonym: "nerve disease, peripheral" NARROW [MESH:D010523]
synonym: "nerve diseases, peripheral" NARROW [MESH:D010523]
synonym: "neuropathy, peripheral" NARROW [MESH:D010523]
synonym: "peripheral nerve disease" NARROW [DOID:574, MESH:D010523, MTH:516, NCIT:C27580]
synonym: "peripheral nerve diseases" NARROW [MESH:D010523]
synonym: "peripheral nervous system disease" EXACT [MESH:D010523, MONDO:patterns/location, NCIT:C27580]
synonym: "peripheral nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "peripheral nervous system disorder" EXACT [NCIT:C27580]
synonym: "peripheral nervous system disorders" EXACT [MESH:D010523]
synonym: "peripheral Neuropathies" NARROW [MESH:D010523]
synonym: "peripheral neuropathy" NARROW [DOID:574, MESH:D010523]
synonym: "PNS (peripheral nervous system) diseases" EXACT [MESH:D010523]
synonym: "PNS disease" EXACT [MESH:D010523]
synonym: "PNS diseases" EXACT [MESH:D010523]
xref: DOID:574 {source="MONDO:equivalentTo"}
xref: EFO:0009387 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G50-G59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G60-G65 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G64 {source="DOID:574"}
xref: ICD9:350-359.99 {source="DOID:574"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:892389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010523 {source="MONDO:equivalentTo", source="DOID:574"}
xref: NCIT:C119734 {source="DOID:574"}
xref: NCIT:C27580 {source="MONDO:equivalentTo", source="DOID:574"}
xref: NCIT:C27587 {source="DOID:574"}
xref: SCTID:155064004 {source="DOID:574"}
xref: SCTID:155080009 {source="DOID:574"}
xref: SCTID:155100008 {source="DOID:574"}
xref: SCTID:193088006 {source="DOID:574"}
xref: SCTID:193264002 {source="DOID:574"}
xref: SCTID:264554005 {source="DOID:574"}
xref: SCTID:267706009 {source="DOID:574"}
xref: SCTID:302226006 {source="DOID:574"}
xref: SCTID:42658009 {source="MONDO:equivalentTo", source="DOID:574"}
xref: UMLS:C4025831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:892389"}
is_a: MONDO:0005071 {source="DOID:574", source="MESH:D010523/inferred", source="MONDO:Redundant", source="NCIT:C27580"} ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system

[Term]
id: MONDO:0003621
name: small intestinal vasoactive intestinal peptide producing tumor
def: "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "small intestinal vasoactive intestinal peptide producing tumor" EXACT [NCIT:C27455]
synonym: "small intestinal VIP producing tumor" EXACT [DOID:5740, NCIT:C27455]
synonym: "small intestinal VIP producing tumour" EXACT OMO:0003005 []
synonym: "small intestinal VIP-producing NET" EXACT [NCIT:C27455]
synonym: "small intestinal VIP-producing neuroendocrine tumor" EXACT [NCIT:C27455]
synonym: "small intestinal VIP-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "small intestinal VIPoma" EXACT [NCIT:C27455]
xref: DOID:5740 {source="MONDO:equivalentTo"}
xref: MEDGEN:277655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27455 {source="DOID:5740", source="MONDO:equivalentTo"}
xref: UMLS:C1336009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277655"}
is_a: MONDO:0002995 {source="NCIT:C27455"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0019960 {source="NCIT:C27455"} ! VIPoma
relationship: excluded_subClassOf MONDO:0000956 {source="DOID:5740", source="https://orcid.org/0000-0001-5208-3432"} ! small intestine cancer

[Term]
id: MONDO:0003622
name: pancreatic vasoactive intestinal peptide producing tumor
def: "A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome." [NCIT:C27454]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pancreatic vasoactive intestinal peptide producing neoplasm" EXACT [NCIT:C27454]
synonym: "pancreatic vasoactive intestinal peptide producing tumor" EXACT [NCIT:C27454]
synonym: "pancreatic VIP producing neoplasm" EXACT [NCIT:C27454]
synonym: "pancreatic VIP producing NET" EXACT [NCIT:C27454]
synonym: "pancreatic VIP producing tumor" EXACT [DOID:5741, NCIT:C27454]
synonym: "pancreatic VIP producing tumour" EXACT OMO:0003005 []
synonym: "pancreatic VIP-producing neuroendocrine tumor" EXACT [NCIT:C27454]
synonym: "pancreatic VIP-producing neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:5741 {source="MONDO:equivalentTo"}
xref: MEDGEN:453212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27454 {source="DOID:5741", source="MONDO:equivalentTo"}
xref: NCIT:C95599 {source="DOID:5741"}
xref: UMLS:C2033037 {source="MONDO:equivalentTo", source="MEDGEN:453212", source="MONDO:MEDGEN"}
is_a: MONDO:0019954 {source="MONDO:0003622/inferred", source="MONDO:Redundant", source="NCIT:C27454"} ! pancreatic neuroendocrine tumor
is_a: MONDO:0019960 {source="NCIT:C27454"} ! VIPoma

[Term]
id: MONDO:0003623
name: obsolete pancreatic acinar cell adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006346

[Term]
id: MONDO:0003624
name: acinic cell breast carcinoma
def: "A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation." [NCIT:C40367]
subset: otar {source="MONDO:OTAR"}
synonym: "acinar cell breast carcinoma" EXACT [MONDO:patterns/location]
synonym: "acinic cell breast carcinoma" EXACT [NCIT:C40367]
synonym: "breast carcinoma of acinar cell" EXACT [MONDO:design_pattern]
xref: DOID:5743 {source="MONDO:equivalentTo"}
xref: MEDGEN:272988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40367 {source="DOID:5743", source="MONDO:equivalentTo"}
xref: UMLS:C1515868 {source="MEDGEN:272988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004965 {source="DOID:5743", source="MONDO:Redundant", source="NCIT:C40367"} ! acinar cell carcinoma
is_a: MONDO:0004988 {source="DOID:5743", source="MONDO:Redundant", source="NCIT:C40367/inferred"} ! breast adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C40367"} ! breast ductal adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C40367"} ! invasive breast carcinoma
intersection_of: MONDO:0004989 ! breast carcinoma
intersection_of: disease_has_location CL:0000622 ! acinar cell

[Term]
id: MONDO:0003625
name: obsolete MONDO:0003625
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005211

[Term]
id: MONDO:0003626
name: uterine ligament serous adenocarcinoma
def: "A rare serous adenocarcinoma that arises from the uterine ligament." [NCIT:C40136]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "uterine ligament serous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40136]
xref: DOID:5747 {source="MONDO:equivalentTo"}
xref: MEDGEN:275561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40136 {source="MONDO:equivalentTo", source="DOID:5747", source="MONDO:exact-label-match"}
xref: UMLS:C1519872 {source="MEDGEN:275561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002741 {source="DOID:5747", source="MONDO:Redundant", source="NCIT:C40136"} ! uterine ligament adenocarcinoma
is_a: MONDO:0005278 {source="MONDO:Entailed", source="NCIT:C40136"} ! serous adenocarcinoma
intersection_of: MONDO:0005278 ! serous adenocarcinoma
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0003627
name: rheumatic pulmonary valve disease
def: "A rheumatologic disorder that involves the pulmonary valve." [MONDO:patterns/location]
synonym: "pulmonary valve rheumatologic disorder" EXACT [MONDO:patterns/location]
synonym: "rheumatic disease of pulmonary valve" EXACT [DOID:5748, ICD9CM:397.1]
synonym: "rheumatic pulmonary incompetence" EXACT [DOID:5748]
synonym: "rheumatologic disorder of pulmonary valve" EXACT [MONDO:design_pattern]
xref: DOID:5748 {source="MONDO:equivalentTo"}
xref: ICD10CM:I09.89 {source="DOID:5748"}
xref: ICD9:397.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5748"}
xref: MEDGEN:510027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:18687009 {source="MONDO:equivalentTo", source="DOID:5748"}
xref: SCTID:194747005 {source="DOID:5748"}
xref: SCTID:266283005 {source="DOID:5748"}
xref: UMLS:C0155579 {source="MONDO:equivalentTo", source="MEDGEN:510027", source="MONDO:MEDGEN"}
is_a: MONDO:0000603 {source="DOID:5748", source="MONDO:Entailed"} ! autoimmune disorder of cardiovascular system
is_a: MONDO:0003628 {source="DOID:5748", source="MONDO:Redundant"} ! pulmonary valve disorder
is_a: MONDO:0005554 {source="DOID:5748", source="MONDO:Redundant"} ! rheumatic disorder
intersection_of: MONDO:0005554 ! rheumatic disorder
intersection_of: disease_has_location UBERON:0002146 ! pulmonary valve

[Term]
id: MONDO:0003628
name: pulmonary valve disorder
def: "A disease involving the pulmonary valve." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of pulmonary valve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pulmonary valve" EXACT []
synonym: "disorder of pulmonary valve" EXACT [MONDO:patterns/location_top]
synonym: "pulmonary valve disease" EXACT [MONDO:patterns/location]
synonym: "pulmonary valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "pulmonary valve disorder" EXACT [DOID:5749, ICD9CM:424.3]
xref: DOID:5749 {source="MONDO:equivalentTo"}
xref: EFO:0009564 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:424.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5749"}
xref: MEDGEN:18767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78579 {source="MONDO:equivalentTo", source="DOID:5749"}
xref: SCTID:195001000 {source="DOID:5749"}
xref: SCTID:76267008 {source="MONDO:equivalentTo", source="DOID:5749"}
xref: UMLS:C0034087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18767"}
is_a: MONDO:0002869 {source="DOID:5749", source="MONDO:Redundant", source="NCIT:C78579"} ! heart valve disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002146 ! pulmonary valve

[Term]
id: MONDO:0003629
name: obsolete uterine corpus serous adenocarcinoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7280" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006196

[Term]
id: MONDO:0003630
name: pancreatic serous cystadenocarcinoma
def: "A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain." [NCIT:C5724]
subset: gard_rare {source="GARD:21781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424073"}
subset: orphanet_rare {source="Orphanet:424073"}
subset: rare
synonym: "pancreas serous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic serous cystadenocarcinoma" EXACT [NCIT:C5724, Orphanet:424073]
synonym: "serous cystadenocarcinoma of pancreas" EXACT [DOID:5751, MONDO:0018526, NCIT:C5724]
synonym: "serous cystadenocarcinoma of the pancreas" EXACT [NCIT:C5724]
xref: DOID:5751 {source="MONDO:equivalentTo"}
xref: GARD:21781 {source="MONDO:GARD"}
xref: ICD10CM:C25.0 {source="Orphanet:424073", source="Orphanet:424073/nd"}
xref: ICD10CM:C25.1 {source="Orphanet:424073", source="Orphanet:424073/nd"}
xref: ICD10CM:C25.2 {source="Orphanet:424073", source="Orphanet:424073/nd"}
xref: ICD10CM:C25.7 {source="Orphanet:424073", source="Orphanet:424073/nd"}
xref: ICD10CM:C25.8 {source="Orphanet:424073", source="Orphanet:424073/nd"}
xref: MEDGEN:233832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5724 {source="DOID:5751", source="MONDO:equivalentTo"}
xref: Orphanet:424073 {source="MONDO:equivalentTo"}
xref: UMLS:C1335315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233832"}
is_a: MONDO:0002810 {source="NCIT:C5724"} ! pancreatic serous cystic neoplasm
is_a: MONDO:0002867 {source="DOID:5751", source="MONDO:Redundant", source="NCIT:C5724"} ! pancreatic cystadenocarcinoma
is_a: MONDO:0005192 {source="Orphanet:424073"} ! exocrine pancreatic carcinoma
is_a: MONDO:0005278 {source="DOID:5751", source="MONDO:0003630/inferred", source="MONDO:Entailed", source="NCIT:C5724/inferred"} ! serous adenocarcinoma
is_a: MONDO:0024621 {source="MONDO:Redundant", source="NCIT:C5724"} ! serous cystadenocarcinoma
intersection_of: MONDO:0024621 ! serous cystadenocarcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare

[Term]
id: MONDO:0003631
name: cervical serous adenocarcinoma
def: "A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen." [NCIT:C40201]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical serous adenocarcinoma" EXACT [NCIT:C40201]
xref: DOID:5752 {source="MONDO:equivalentTo"}
xref: MEDGEN:308950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40201 {source="DOID:5752", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1516431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308950"}
is_a: MONDO:0005153 {source="DOID:5752", source="NCIT:C40201"} ! cervical adenocarcinoma
is_a: MONDO:0005278 {source="MONDO:Redundant", source="NCIT:C40201"} ! serous adenocarcinoma
intersection_of: MONDO:0005278 ! serous adenocarcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0003632
name: endocervicitis
def: "Inflammation of the endocervix." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "endocervix inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of endocervix" EXACT []
xref: DOID:5757 {source="MONDO:equivalentTo"}
xref: MEDGEN:4942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26762 {source="DOID:5757", source="MONDO:equivalentTo"}
xref: SCTID:155980007 {source="DOID:5757"}
xref: SCTID:198201006 {source="DOID:5757"}
xref: SCTID:266654000 {source="DOID:5757"}
xref: SCTID:31354001 {source="DOID:5757", source="MONDO:equivalentTo"}
xref: UMLS:C0014127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4942"}
is_a: MONDO:0002345 {source="DOID:5757", source="NCIT:C26762"} ! cervicitis
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000458 ! endocervix

[Term]
id: MONDO:0003633
name: malignant mesenchymoma
def: "A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:P378]
synonym: "mesenchymoma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "mesenchymoma, malignant (morphologic abnormality)" EXACT [DOID:5758]
xref: DOID:5758 {source="MONDO:equivalentTo"}
xref: ICDO:8990/3 {source="NCIT:C4268"}
xref: MEDGEN:87252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535700 {source="DOID:5758"}
xref: NCIT:C4268 {source="MONDO:equivalentTo", source="DOID:5758"}
xref: SCTID:89623007 {source="DOID:5758"}
xref: UMLS:C0334492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87252"}
is_a: MONDO:0006854 {source="DOID:5758", source="MONDO:Redundant", source="NCIT:C4268"} ! mesenchymoma
intersection_of: MONDO:0006854 ! mesenchymoma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003634
name: proteinuria
def: "The presence of abnormal amounts of protein in the urine." [NCIT:P378]
comment: Consider obsoleting / use HPO
xref: DOID:576 {source="MONDO:equivalentTo"}
xref: ICD10CM:R80 {source="MONDO:equivalentTo", source="DOID:576"}
xref: ICD10CM:R80.9 {source="DOID:576"}
xref: ICD9:791.0 {source="DOID:576"}
xref: MEDGEN:10976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011507 {source="MONDO:equivalentTo", source="DOID:576"}
xref: NCIT:C38012 {source="MONDO:otherHierarchy", source="DOID:576"}
xref: SCTID:144515004 {source="DOID:576"}
xref: SCTID:158565005 {source="DOID:576"}
xref: SCTID:158568007 {source="DOID:576"}
xref: SCTID:167279003 {source="DOID:576"}
xref: SCTID:207310001 {source="DOID:576"}
xref: SCTID:207315006 {source="DOID:576"}
xref: SCTID:232691000 {source="DOID:576"}
xref: SCTID:236719005 {source="DOID:576"}
xref: SCTID:29738008 {source="DOID:576"}
xref: UMLS:C0033687 {source="MEDGEN:10976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:576"} ! kidney disorder

[Term]
id: MONDO:0003635
name: sebaceous breast carcinoma
def: "A very rare breast adenocarcinoma with sebaceous differentiation." [NCIT:C40369]
synonym: "breast sebaceous adenocarcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sebaceous adenocarcinoma of breast" EXACT [MONDO:design_pattern]
synonym: "sebaceous breast carcinoma" EXACT [NCIT:C40369]
xref: DOID:5760 {source="MONDO:equivalentTo"}
xref: MEDGEN:276789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40369 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5760"}
xref: UMLS:C1519207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276789"}
is_a: MONDO:0004988 {source="MONDO:Redundant", source="NCIT:C40369"} ! breast adenocarcinoma
is_a: MONDO:0004989 {source="DOID:5760", source="MONDO:Redundant", source="NCIT:C40369/inferred"} ! breast carcinoma
is_a: MONDO:0006256 {source="NCIT:C40369"} ! invasive breast carcinoma
is_a: MONDO:0006962 {source="MONDO:Redundant", source="NCIT:C40369"} ! sebaceous adenocarcinoma
intersection_of: MONDO:0006962 ! sebaceous adenocarcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003636
name: vulvar sebaceous carcinoma
def: "A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests." [NCIT:C40309]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mammalian vulva sebaceous adenocarcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sebaceous adenocarcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
xref: DOID:5761 {source="MONDO:equivalentTo"}
xref: MEDGEN:276996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40309 {source="DOID:5761", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1520094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276996"}
is_a: MONDO:0005215 {source="DOID:5761", source="NCIT:C40309/inferred"} ! vulvar carcinoma
intersection_of: MONDO:0006962 ! sebaceous adenocarcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0003637
name: clear cell-sugar-tumor of the lung
def: "A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative." [NCIT:C38152]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CCSTL" EXACT ABBREVIATION [NCIT:C38152]
synonym: "clear cell-Sugar-tumor of lung" EXACT [NCIT:C38152]
synonym: "clear cell-Sugar-tumor of the lung" EXACT [NCIT:C38152]
synonym: "lung clear cell tumor" EXACT [NCIT:C38152]
synonym: "lung clear cell tumour" EXACT OMO:0003005 []
synonym: "lung clear cell-sugar-tumor" RELATED [DOID:5763]
synonym: "Sugar tumor" EXACT [NCIT:C38152]
synonym: "Sugar tumour" EXACT OMO:0003005 []
xref: DOID:5763 {source="MONDO:equivalentTo"}
xref: MEDGEN:232370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38152 {source="DOID:5763", source="MONDO:equivalentTo"}
xref: UMLS:C1333065 {source="MEDGEN:232370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002732 {source="DOID:5763", source="NCIT:C38152/inferred"} ! lung benign neoplasm
is_a: MONDO:0006359 {source="NCIT:C38152", source="NCIT:C38152/inferred"} ! neoplasm with perivascular epithelioid cell differentiation
relationship: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003638
name: lung meningioma
def: "A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas." [NCIT:C5668]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lung meningioma" EXACT [NCIT:C5668]
synonym: "lung meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "lung primary meningioma" EXACT [DOID:5764]
synonym: "meningioma (disease) of lung" EXACT []
synonym: "meningioma of lung" EXACT [NCIT:C5668]
synonym: "meningioma of the lung" EXACT [NCIT:C5668]
synonym: "primary pulmonary meningioma" EXACT [DOID:5764, NCIT:C5276]
synonym: "pulmonary meningioma" EXACT [DOID:5764, NCIT:C5668]
xref: DOID:5764 {source="MONDO:equivalentTo"}
xref: MEDGEN:232712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5276 {source="DOID:5764"}
xref: NCIT:C5668 {source="DOID:5764", source="MONDO:equivalentTo"}
xref: UMLS:C1334450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232712"}
is_a: MONDO:0008903 {source="DOID:5764", source="MONDO:Entailed"} ! lung cancer
is_a: MONDO:0016642 {source="DOID:5764", source="MONDO:Redundant"} ! meningioma
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C5668"} ! lung neoplasm
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003639
name: lung hilum neoplasm
def: "A benign or malignant neoplasm that arises from the hilar region of the lung." [NCIT:C5671]
synonym: "hilar lung neoplasm" EXACT [NCIT:C5671]
synonym: "hilar lung tumor" EXACT [NCIT:C5671]
synonym: "hilar lung tumour" EXACT OMO:0003005 []
synonym: "lung hilum neoplasm" EXACT [NCIT:C5671]
synonym: "lung hilum tumor" EXACT [DOID:5767, NCIT:C5671]
synonym: "lung hilum tumour" EXACT OMO:0003005 []
synonym: "lung hilus neoplasm" EXACT []
synonym: "lung hilus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lung hilus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "lung hilus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of hilus of lung" EXACT [DOID:5767]
synonym: "neoplasm of lung hilus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of lung hilus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of lung hilus" EXACT OMO:0003005 []
xref: DOID:5767 {source="MONDO:equivalentTo"}
xref: MEDGEN:224849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5671 {source="MONDO:equivalentTo", source="DOID:5767"}
xref: SCTID:126707007 {source="MONDO:equivalentTo", source="DOID:5767"}
xref: UMLS:C1290358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224849"}
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C5671"} ! lung neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0004886 ! lung hilus

[Term]
id: MONDO:0003640
name: verruciform xanthoma of skin
def: "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages." [NCIT:P378]
synonym: "cutaneous verruciform xanthoma" EXACT [DOID:5769, NCIT:C4478]
synonym: "skin verruciform xanthoma" EXACT [NCIT:C4478]
synonym: "verruciform xanthoma" EXACT [NCIT:C4478]
synonym: "verruciform xanthoma (morphologic abnormality)" EXACT [DOID:5769]
synonym: "verruciform xanthoma of the skin" EXACT [NCIT:C4478]
xref: DOID:5769 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4478 {source="MONDO:equivalentTo", source="DOID:5769"}
xref: SCTID:254756007 {source="MONDO:equivalentTo", source="DOID:5769"}
xref: SCTID:402477000 {source="DOID:5769"}
xref: SCTID:66174008 {source="DOID:5769"}
xref: UMLS:C0346054 {source="MEDGEN:91076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005236 {source="NCIT:C4478"} ! xanthoma
relationship: excluded_subClassOf MONDO:0002615 {source="DOID:5769", source="https://orcid.org/0000-0001-5208-3432"} ! xanthomatosis

[Term]
id: MONDO:0003641
name: central nervous system hematopoietic neoplasm
def: "A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias." [NCIT:C5503]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system haematopoietic and lymphoid system neoplasm" EXACT OMO:0003005 []
synonym: "central nervous system haematopoietic neoplasms" EXACT OMO:0003005 []
synonym: "central nervous system haematopoietic tumour" EXACT OMO:0003005 []
synonym: "central nervous system hematologic cancer" RELATED [DOID:5772]
synonym: "central nervous system hematopoietic and lymphoid system neoplasm" EXACT [MONDO:patterns/location]
synonym: "central nervous system hematopoietic neoplasm" EXACT [NCIT:C5503]
synonym: "central nervous system hematopoietic neoplasms" EXACT [NCIT:C5503]
synonym: "central nervous system hematopoietic tumor" EXACT [NCIT:C5503]
synonym: "CNS haematopoietic neoplasm" EXACT OMO:0003005 []
synonym: "CNS haematopoietic tumour" EXACT OMO:0003005 []
synonym: "CNS hematopoietic neoplasm" EXACT [NCIT:C5503]
synonym: "CNS hematopoietic tumor" EXACT [DOID:5772, NCIT:C5503]
synonym: "haematopoietic and lymphoid system neoplasm of central nervous system" EXACT OMO:0003005 []
synonym: "haematopoietic neoplasm of central nervous system" EXACT OMO:0003005 []
synonym: "haematopoietic neoplasm of CNS" EXACT OMO:0003005 []
synonym: "haematopoietic neoplasm of the central nervous system" EXACT OMO:0003005 []
synonym: "haematopoietic neoplasm of the CNS" EXACT OMO:0003005 []
synonym: "haematopoietic tumour of central nervous system" EXACT OMO:0003005 []
synonym: "haematopoietic tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "hematopoietic and lymphoid system neoplasm of central nervous system" EXACT [MONDO:design_pattern]
synonym: "hematopoietic neoplasm of central nervous system" EXACT [DOID:5772, NCIT:C5503]
synonym: "hematopoietic neoplasm of CNS" EXACT [NCIT:C5503]
synonym: "hematopoietic neoplasm of the central nervous system" EXACT [NCIT:C5503]
synonym: "hematopoietic neoplasm of the CNS" EXACT [NCIT:C5503]
synonym: "hematopoietic tumor of central nervous system" EXACT [NCIT:C5503]
synonym: "hematopoietic tumor of the central nervous system" EXACT [NCIT:C5503]
synonym: "lymphomas and hemopoietic neoplasms of CNS" EXACT [NCIT:C5503]
synonym: "lymphomas and hemopoietic neoplasms of the CNS" EXACT [NCIT:C5503]
xref: DOID:5772 {source="MONDO:equivalentTo"}
xref: MEDGEN:234101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5503 {source="DOID:5772", source="MONDO:equivalentTo"}
xref: UMLS:C1332882 {source="MEDGEN:234101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002334 {source="DOID:5772", source="MONDO:Entailed", source="NCIT:C5503/inferred"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C5503"} ! central nervous system neoplasm
is_a: MONDO:0044881 {source="NCIT:C5503"} ! hematopoietic and lymphoid cell neoplasm
intersection_of: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm
intersection_of: disease_has_location UBERON:0001017 ! central nervous system
relationship: excluded_subClassOf MONDO:0002714 {source="DOID:5772", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system cancer

[Term]
id: MONDO:0003642
name: obsolete oral submucous fibrosis
is_obsolete: true
replaced_by: MONDO:0018166

[Term]
id: MONDO:0003643
name: giant hemangioma
def: "A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage." [NCIT:C27777]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "giant hemangioma" EXACT [NCIT:C27777]
xref: DOID:5774 {source="MONDO:equivalentTo"}
xref: MEDGEN:272670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27777 {source="DOID:5774", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333817 {source="MEDGEN:272670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003155 {source="DOID:5774", source="NCIT:C27777"} ! cavernous hemangioma

[Term]
id: MONDO:0003644
name: cavernous hemangioma of colon
def: "A cavernous hemangioma arising from the colon." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cavernous angioma of colon" EXACT [NCIT:C5395]
synonym: "cavernous angioma of the colon" EXACT [NCIT:C5395]
synonym: "cavernous hemangioma of colon" EXACT [NCIT:C5395]
synonym: "cavernous hemangioma of the colon" EXACT [NCIT:C5395]
synonym: "colon cavernous angioma" EXACT [NCIT:C5395]
synonym: "colon cavernous hemangioma" EXACT [MONDO:patterns/location, NCIT:C5395]
synonym: "colonic cavernous angioma" EXACT [NCIT:C5395]
synonym: "colonic cavernous hemangioma" EXACT [DOID:5775, NCIT:C5395]
xref: DOID:5775 {source="MONDO:equivalentTo"}
xref: MEDGEN:232084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5395 {source="DOID:5775", source="MONDO:equivalentTo"}
xref: UMLS:C1333086 {source="MEDGEN:232084", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002278 {source="MONDO:Redundant", source="NCIT:C5395"} ! benign colon neoplasm
is_a: MONDO:0003062 {source="MONDO:Redundant", source="NCIT:C5395/inferred"} ! intestinal benign neoplasm
is_a: MONDO:0003155 {source="DOID:5775", source="MONDO:Redundant", source="NCIT:C5395"} ! cavernous hemangioma
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C5395/inferred"} ! colonic neoplasm
intersection_of: MONDO:0003155 ! cavernous hemangioma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0003645
name: cavernous hemangioma of face
alt_id: MONDO:0006125
def: "A cavernous hemangioma arising from the face." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cavernous hemangioma of face" EXACT [NCIT:C7053]
synonym: "cavernous hemangioma of the Face" EXACT [NCIT:C7053]
synonym: "face cavernous hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:5776 {source="MONDO:equivalentTo"}
xref: EFO:1000152 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0007486 {source="MONDO:otherHierarchy"}
xref: MEDGEN:234097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7053 {source="EFO:1000152", source="DOID:5776", source="MONDO:equivalentTo"}
xref: UMLS:C1332863 {source="MEDGEN:234097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003155 {source="DOID:5776", source="MONDO:Redundant", source="NCIT:C7053"} ! cavernous hemangioma
intersection_of: MONDO:0003155 ! cavernous hemangioma
intersection_of: disease_has_location UBERON:0001456 ! face

[Term]
id: MONDO:0003646
name: rectum neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5698]
subset: gard_rare {source="GARD:19756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100081"}
subset: orphanet_rare {source="Orphanet:100081"}
subset: rare
synonym: "NET of the rectum" EXACT [Orphanet:100081]
synonym: "neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5698]
synonym: "neuroendocrine neoplasm of the rectum" EXACT [NCIT:C5698]
synonym: "neuroendocrine tumor of rectum" EXACT [DOID:5777, NCIT:C5698]
synonym: "neuroendocrine tumour of rectum" EXACT OMO:0003005 []
synonym: "rectal NET" EXACT [Orphanet:100081]
synonym: "rectal neuroendocrine neoplasm" EXACT [NCIT:C5698]
synonym: "rectum NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "rectum neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "rectum neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "rectum neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "rectum neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:5777 {source="MONDO:equivalentTo"}
xref: GARD:19756 {source="MONDO:GARD"}
xref: MEDGEN:1810164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5698 {source="DOID:5777", source="MONDO:equivalentTo"}
xref: Orphanet:100081 {source="MONDO:equivalentTo"}
xref: UMLS:C5554035 {source="MEDGEN:1810164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002165 {source="DOID:5777", source="MONDO:Redundant", source="NCIT:C5698"} ! rectal neoplasm
is_a: MONDO:0002883 {source="DOID:5777", source="MONDO:Redundant", source="NCIT:C5698/inferred"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0024476 {source="Orphanet:100081"} ! epithelial neoplasm of rectum
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100081", source="Orphanet:100081/inferred"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001052 ! rectum
relationship: excluded_subClassOf MONDO:0006519 {source="DOID:5777", source="https://orcid.org/0000-0001-5208-3432"} ! rectal cancer
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018514"} ! rare

[Term]
id: MONDO:0003647
name: atrophic flaccid tympanic membrane
xref: DOID:5781 {source="MONDO:equivalentTo"}
xref: ICD10CM:H73.81 {source="DOID:5781"}
xref: ICD9:384.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5781"}
xref: MEDGEN:509982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194322005 {source="DOID:5781"}
xref: SCTID:38645004 {source="MONDO:equivalentTo", source="DOID:5781"}
xref: UMLS:C0155470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509982"}
is_a: MONDO:0003648 {source="DOID:5781"} ! tympanic membrane disorder

[Term]
id: MONDO:0003648
name: tympanic membrane disorder
def: "A disease involving the tympanic membrane." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of tympanic membrane" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of tympanic membrane" EXACT []
synonym: "disorder of tympanic membrane" EXACT [MONDO:patterns/location_top]
synonym: "tympanic membrane disease" EXACT [MONDO:patterns/location]
synonym: "tympanic membrane disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5782 {source="MONDO:equivalentTo"}
xref: EFO:0009570 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H73.9 {source="DOID:5782"}
xref: ICD10CM:H73.90 {source="DOID:5782"}
xref: ICD9:384.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5782"}
xref: MEDGEN:508258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194326008 {source="DOID:5782"}
xref: SCTID:21426000 {source="MONDO:equivalentTo", source="DOID:5782"}
xref: UMLS:C0041825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508258"}
is_a: MONDO:0003276 {source="DOID:5782", source="MONDO:Redundant"} ! middle ear disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002364 ! tympanic membrane

[Term]
id: MONDO:0003649
name: esophageal neuroendocrine tumor
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus." [NCIT:P378]
subset: gard_rare {source="GARD:22058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:506136"}
subset: orphanet_rare {source="Orphanet:506136"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "esophageal NEN" EXACT [Orphanet:506136]
synonym: "esophageal NET" EXACT [NCIT:C95616]
synonym: "esophageal neuroendocrine neoplasm" EXACT [Orphanet:506136]
synonym: "esophageal neuroendocrine tumor" EXACT [NCIT:C95616]
synonym: "esophageal well differentiated endocrine tumor" EXACT [NCIT:C95616]
synonym: "esophageal well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95616]
synonym: "esophageal well differentiated endocrine tumour" EXACT OMO:0003005 []
synonym: "esophagus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "esophagus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "esophagus neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "esophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "NEN of esophagus" EXACT [Orphanet:506136]
synonym: "NEN of oesophagus" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of esophagus" EXACT [MONDO:patterns/neuroendocrine_neoplasm, Orphanet:506136]
synonym: "neuroendocrine neoplasm of oesophagus" EXACT OMO:0003005 []
synonym: "neuroendocrine tumor of esophagus" EXACT [DOID:5784, NCIT:C5821]
synonym: "neuroendocrine tumour of oesophagus" EXACT OMO:0003005 []
synonym: "oesophagus NET" EXACT OMO:0003005 []
synonym: "oesophagus neuroendocrine neoplasm" EXACT OMO:0003005 []
synonym: "oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT OMO:0003005 []
synonym: "oesophagus neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:5784 {source="MONDO:equivalentTo"}
xref: GARD:22058 {source="MONDO:GARD"}
xref: MEDGEN:459486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5821 {source="DOID:5784"}
xref: NCIT:C95616 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:506136 {source="MONDO:equivalentTo"}
xref: UMLS:C2987260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:459486"}
is_a: MONDO:0000386 {source="NCIT:C95616"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C95616/inferred"} ! neoplasm of esophagus
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0003650
name: mixed hepatoblastoma
def: "A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mixed epithelial and mesenchymal hepatoblastoma" EXACT [DOID:5789]
xref: DOID:5789 {source="MONDO:equivalentTo"}
xref: ICDO:8970/3 {source="NCIT:C7097"}
xref: MEDGEN:233194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7097 {source="MONDO:equivalentTo", source="DOID:5789"}
xref: UMLS:C1334784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233194"}
is_a: MONDO:0018666 {source="DOID:5789", source="NCIT:C7097"} ! hepatoblastoma

[Term]
id: MONDO:0003651
name: macrotrabecular hepatoblastoma
def: "A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:5798 {source="MONDO:equivalentTo"}
xref: MEDGEN:233654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7095 {source="DOID:5798", source="MONDO:equivalentTo"}
xref: UMLS:C1334543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233654"}
is_a: MONDO:0018666 {source="DOID:5798", source="NCIT:C7095"} ! hepatoblastoma

[Term]
id: MONDO:0003652
name: acute urate nephropathy
def: "Urolithiasis in which the composition of the stones is predominantly urate." [NCIT:P378]
synonym: "uric acid nephrolithiasis" EXACT [DOID:580, ICD9CM:274.11]
synonym: "uric acid urolithiasis" EXACT [DOID:580]
xref: DOID:580 {source="MONDO:equivalentTo"}
xref: ICD9:274.11 {source="DOID:580"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:574593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123037 {source="MONDO:equivalentTo", source="DOID:580"}
xref: NCIT:C123245 {source="DOID:580"}
xref: SCTID:16410004 {source="DOID:580"}
xref: SCTID:190831009 {source="DOID:580"}
xref: SCTID:197793002 {source="DOID:580"}
xref: SCTID:236496000 {source="MONDO:equivalentTo"}
xref: SCTID:267441009 {source="DOID:580"}
xref: UMLS:C0341712 {source="MEDGEN:574593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:580", source="MONDO:Redundant", source="NCIT:C123037/inferred"} ! kidney disorder
is_a: MONDO:0008171 {source="NCIT:C123037"} ! nephrolithiasis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003653
name: stork bite
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Salmon patch nevus" EXACT [DOID:5806]
synonym: "Unna's nevus" EXACT [DOID:5806, NCIT:C4399]
xref: DOID:5806 {source="MONDO:equivalentTo"}
xref: MEDGEN:870384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:254211001 {source="MONDO:equivalentTo"}
xref: UMLS:C4024829 {source="MEDGEN:870384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016231 ! capillary malformation
relationship: excluded_subClassOf MONDO:0002407 {source="DOID:5806", source="https://orcid.org/0000-0001-5208-3432"} ! capillary hemangioma

[Term]
id: MONDO:0003654
name: childhood parosteal osteosarcoma
def: "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent." [NCIT:C6589]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood parosteal osteogenic sarcoma" EXACT [NCIT:C6589]
synonym: "childhood parosteal osteosarcoma" EXACT [NCIT:C6589]
xref: DOID:5809 {source="MONDO:equivalentTo"}
xref: MEDGEN:272467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6589 {source="MONDO:equivalentTo", source="DOID:5809"}
xref: UMLS:C1332994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272467"}
is_a: MONDO:0002623 {source="MONDO:Redundant", source="NCIT:C6589"} ! pediatric osteosarcoma
is_a: MONDO:0006817 {source="DOID:5809", source="MONDO:Redundant", source="NCIT:C6589"} ! juxtacortical osteosarcoma
intersection_of: MONDO:0002623 {source="NCIT:C6589"} ! pediatric osteosarcoma
intersection_of: MONDO:0006817 {source="NCIT:C6589"} ! juxtacortical osteosarcoma

[Term]
id: MONDO:0003655
name: cerebral lymphoma
def: "A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion." [NCIT:C7611]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain primary lymphoma" EXACT [DOID:5815]
synonym: "cerebral lymphoma" EXACT [NCIT:C7611]
synonym: "primary cerebral lymphoma" EXACT [NCIT:C7611]
synonym: "primary lymphoma of cerebrum" EXACT [DOID:5815, NCIT:C3883, NCIT:C7611]
synonym: "primary lymphoma of the cerebrum" EXACT [NCIT:C7611]
synonym: "primary lymphoma, brain" EXACT [NCIT:C7611]
xref: DOID:5815 {source="MONDO:equivalentTo"}
xref: MEDGEN:116109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7611 {source="MONDO:equivalentTo", source="DOID:5815"}
xref: SCTID:276836002 {source="MONDO:equivalentTo", source="DOID:5815"}
xref: UMLS:C0240803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116109"}
is_a: MONDO:0002571 {source="NCIT:C7611"} ! primary central nervous system lymphoma
is_a: MONDO:0002731 {source="DOID:5815", source="NCIT:C7611"} ! cerebral hemisphere cancer

[Term]
id: MONDO:0003656
name: hemoglobinuria
def: "A laboratory test result which indicates free hemoglobin in the urine." [NCIT:P378]
comment: May be obsoleted as it represents a finding
subset: otar {source="MONDO:OTAR"}
xref: DOID:582 {source="MONDO:equivalentTo"}
xref: ICD10CM:R82.3 {source="MONDO:equivalentTo", source="DOID:582"}
xref: ICD9:791.2 {source="DOID:582"}
xref: MEDGEN:6792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006456 {source="MONDO:equivalentTo", source="DOID:582"}
xref: NCIT:C34677 {source="MONDO:otherHierarchy", source="DOID:582"}
xref: SCTID:158571004 {source="DOID:582"}
xref: SCTID:207317003 {source="DOID:582"}
xref: SCTID:68600005 {source="DOID:582"}
xref: UMLS:C0019048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6792"}
is_a: MONDO:0003634 {source="DOID:582", source="MESH:D006456"} ! proteinuria
relationship: excluded_subClassOf MONDO:0003664 {source="DOID:582", source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia

[Term]
id: MONDO:0003657
name: obsolete methotrexate-associated lymphoproliferation
is_obsolete: true
replaced_by: MONDO:0019483

[Term]
id: MONDO:0003658
name: B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma
def: "A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma." [NCIT:C37869]
subset: gard_rare {source="GARD:10897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37869]
synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37869]
synonym: "Gray zone lymphoma" EXACT [NCIT:C37869]
synonym: "Grey zone lymphoma" EXACT OMO:0003005 []
synonym: "Hodgkin-like anaplastic large cell lymphoma" EXACT [NCIT:C37869]
synonym: "large B-cell lymphoma with Hodgkin features" EXACT [NCIT:C37869]
xref: DOID:5822 {source="MONDO:equivalentTo"}
xref: GARD:10897 {source="MONDO:GARD"}
xref: ICDO:9596/3 {source="NCIT:C37869"}
xref: MEDGEN:234323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37869 {source="MONDO:equivalentTo", source="DOID:5822"}
xref: UMLS:C1333878 {source="MONDO:equivalentTo", source="MEDGEN:234323", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="DOID:5822", source="NCIT:C37869"} ! lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma" xsd:anyURI {source="GARD:0010897"}

[Term]
id: MONDO:0003659
name: pediatric lymphoma
def: "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood lymphoma" EXACT [NCIT:C5165]
synonym: "lymphoma" BROAD [NCIT:C5165]
synonym: "pediatric lymphoma" EXACT [NCIT:C5165]
xref: DOID:5823 {source="MONDO:equivalentTo"}
xref: MEDGEN:232062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C5165 {source="DOID:5823", source="MONDO:equivalentTo"}
xref: UMLS:C1332979 {source="MEDGEN:232062", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="DOID:5823", source="NCIT:C5165"} ! lymphoma
is_a: MONDO:0006517 {source="NCIT:C5165"} ! childhood malignant neoplasm
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003660
name: adult lymphoma
def: "A lymphoma that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult lymphoma" EXACT [NCIT:C7587]
synonym: "lymphoma" BROAD [NCIT:C7587]
synonym: "lymphoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5825 {source="MONDO:equivalentTo"}
xref: MEDGEN:233965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7587 {source="MONDO:equivalentTo", source="DOID:5825"}
xref: UMLS:C1332206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233965"}
is_a: MONDO:0005062 {source="DOID:5825", source="MONDO:Redundant", source="NCIT:C7587"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003661
name: breast lymphoma
def: "A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast lymphoma" EXACT [MONDO:patterns/location, NCIT:C4671]
synonym: "lymphoma of breast" EXACT [DOID:5826, NCIT:C4671]
synonym: "lymphoma of the breast" EXACT [DOID:5826, NCIT:C4671]
synonym: "malignant lymphoma of breast" EXACT [DOID:5826]
synonym: "primary breast lymphoma" EXACT [NCIT:C4671]
xref: DOID:5826 {source="MONDO:equivalentTo"}
xref: MEDGEN:309939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4671 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:278052009 {source="MONDO:equivalentTo", source="DOID:5826"}
xref: UMLS:C1704251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309939"}
is_a: MONDO:0005062 {source="DOID:5826", source="MONDO:Redundant", source="NCIT:C4671/inferred"} ! lymphoma
is_a: MONDO:0007254 {source="DOID:5826", source="MONDO:Redundant", source="NCIT:C4671"} ! breast cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003662
name: obsolete endometrioid ovary carcinoma
is_obsolete: true
replaced_by: MONDO:0006335

[Term]
id: MONDO:0003663
name: uterine ligament endometrioid adenocarcinoma
def: "A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis." [NCIT:C40138]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "endometrioid adenocarcinoma of uterine ligament" EXACT [MONDO:design_pattern]
synonym: "uterine ligament endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40138]
xref: DOID:5829 {source="MONDO:equivalentTo"}
xref: NCIT:C40138 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5829"}
is_a: MONDO:0002741 {source="DOID:5829", source="MONDO:Redundant", source="NCIT:C40138"} ! uterine ligament adenocarcinoma
is_a: MONDO:0005026 {source="MONDO:Redundant", source="NCIT:C40138"} ! endometrioid adenocarcinoma
intersection_of: MONDO:0005026 ! endometrioid adenocarcinoma
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0003664
name: hemolytic anemia
def: "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." [NCIT:C34376]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anaemia hemolytic" EXACT OMO:0003005 []
synonym: "anemia hemolytic" EXACT [DOID:583, MTH:NOCODE]
synonym: "anemia, hemolytic" EXACT [NCIT:C34376]
synonym: "hemolytic anemia" EXACT [NCIT:C34376]
xref: DOID:583 {source="MONDO:equivalentTo"}
xref: ICD10CM:D55-D59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:583", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000743 {source="MONDO:equivalentTo", source="DOID:583"}
xref: NANDO:2200636 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34376 {source="MONDO:equivalentTo", source="DOID:583", source="MONDO:exact-label-match"}
xref: SCTID:191231008 {source="DOID:583"}
xref: SCTID:191416001 {source="DOID:583"}
xref: SCTID:61261009 {source="MONDO:equivalentTo", source="DOID:583"}
xref: UMLS:C0002878 {source="MEDGEN:1916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004139 {source="DOID:583", source="NCIT:C34376"} ! normocytic anemia

[Term]
id: MONDO:0003665
name: cervical endometrioid adenocarcinoma
def: "A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." [NCIT:C6343]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervical endometrioid adenocarcinoma" EXACT [NCIT:C6343]
synonym: "cervical endometrioid carcinoma" EXACT [NCIT:C6343]
synonym: "cervix endometrioid adenocarcinoma" EXACT [NCIT:C6343]
synonym: "cervix endometrioid carcinoma" EXACT [NCIT:C6343]
synonym: "cervix uteri endometrioid adenocarcinoma" EXACT [NCIT:C6343]
synonym: "cervix uteri endometrioid carcinoma" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of cervix" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of cervix uteri" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of the cervix" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of the cervix uteri" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of the uterine cervix" EXACT [NCIT:C6343]
synonym: "endometrioid adenocarcinoma of uterine cervix" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of cervix" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of cervix uteri" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of the cervix" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of the cervix uteri" EXACT [DOID:5830, NCIT:C6343]
synonym: "endometrioid carcinoma of the uterine cervix" EXACT [NCIT:C6343]
synonym: "endometrioid carcinoma of uterine cervix" EXACT [NCIT:C6343]
synonym: "uterine cervix endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6343]
synonym: "uterine cervix endometrioid carcinoma" EXACT [NCIT:C6343]
xref: DOID:5830 {source="MONDO:equivalentTo"}
xref: EFO:1000164 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3769 {source="ONCOTREE:CEEN"}
xref: NCIT:C6343 {source="DOID:5830", source="EFO:1000164", source="MONDO:equivalentTo"}
xref: ONCOTREE:CEEN {source="MONDO:equivalentTo"}
xref: UMLS:C1332913 {source="MEDGEN:272450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005026 {source="MONDO:Redundant", source="NCIT:C6343"} ! endometrioid adenocarcinoma
is_a: MONDO:0005153 {source="DOID:5830", source="NCIT:C6343", source="ONCOTREE:CEEN"} ! cervical adenocarcinoma
intersection_of: MONDO:0005026 ! endometrioid adenocarcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0003666
name: fallopian tube endometrioid adenocarcinoma
def: "An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis." [NCIT:C6279]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "endometrioid adenocarcinoma of fallopian tube" EXACT [NCIT:C6279]
synonym: "endometrioid adenocarcinoma of the fallopian tube" EXACT [NCIT:C6279]
synonym: "endometrioid carcinoma of fallopian tube" EXACT [NCIT:C6279]
synonym: "endometrioid carcinoma of the fallopian tube" EXACT [DOID:5831, NCIT:C6279]
synonym: "fallopian tube endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6279]
synonym: "fallopian tube endometrioid cancer" EXACT [DOID:5831]
synonym: "fallopian tube endometrioid carcinoma" EXACT [NCIT:C6279]
synonym: "fallopian tube endometrioid neoplasm" RELATED [DOID:5831]
xref: DOID:5831 {source="MONDO:equivalentTo"}
xref: MEDGEN:232185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40111 {source="MONDO:relatedTo", source="DOID:5831"}
xref: NCIT:C6279 {source="DOID:5831", source="MONDO:equivalentTo"}
xref: UMLS:C1333592 {source="MEDGEN:232185", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002746 {source="DOID:5831", source="MONDO:Redundant", source="NCIT:C6279"} ! fallopian tube adenocarcinoma
is_a: MONDO:0005026 {source="MONDO:Redundant", source="NCIT:C6279"} ! endometrioid adenocarcinoma
intersection_of: MONDO:0005026 ! endometrioid adenocarcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0003667
name: obsolete spermatocytoma
is_obsolete: true
replaced_by: MONDO:0020513

[Term]
id: MONDO:0003668
name: extragonadal seminoma
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "extragonadal primary seminoma" EXACT [NCIT:C7327]
synonym: "extragonadal seminoma" EXACT [NCIT:C7327]
synonym: "primary extragonadal seminoma" EXACT [DOID:5838, NCIT:C7327]
xref: DOID:5838 {source="MONDO:equivalentTo"}
xref: MEDGEN:234243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7327 {source="MONDO:equivalentTo", source="DOID:5838", source="MONDO:exact-label-match"}
xref: UMLS:C1333502 {source="MEDGEN:234243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003001 {source="DOID:5838", source="NCIT:C7327"} ! seminoma
is_a: MONDO:0003113 {source="NCIT:C7327"} ! extragonadal germ cell cancer

[Term]
id: MONDO:0003669
name: testicular seminoma
def: "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." [NCIT:C7328]
subset: gard_rare {source="GARD:4792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:842"}
subset: orphanet_rare {source="Orphanet:842"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "seminoma of testis" EXACT [DOID:5842, NCIT:C7328, Orphanet:842]
synonym: "seminoma of the testis" EXACT [NCIT:C7328]
synonym: "seminoma testis" EXACT [DOID:5842]
synonym: "seminomatous germ cell tumor of testis" EXACT [Orphanet:842]
synonym: "seminomatous germ cell tumour of testis" EXACT OMO:0003005 []
synonym: "testicular seminoma" EXACT [MONDO:ambiguous, NCIT:C7328, Orphanet:842]
synonym: "testicular seminoma (disease)" EXACT [MONDO:0005245]
synonym: "testicular seminoma Pure" EXACT [DOID:5842, NCIT:C7328]
synonym: "testicular seminomatous germ cell tumor" EXACT [MONDO:0019400]
synonym: "testicular seminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "testis seminoma" EXACT [MONDO:patterns/location]
xref: DOID:5842 {source="MONDO:equivalentTo"}
xref: EFO:0003101 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4792 {source="MONDO:GARD"}
xref: HP:0100617 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C62.9 {source="Orphanet:842/ntbt", source="Orphanet:842"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1790467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018239 {source="DOID:5842"}
xref: NCIT:C7328 {source="EFO:0003101", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:842 {source="MONDO:equivalentTo"}
xref: SCTID:154532006 {source="DOID:5842"}
xref: SCTID:188228003 {source="DOID:5842"}
xref: SCTID:189840000 {source="DOID:5842"}
xref: SCTID:189841001 {source="DOID:5842"}
xref: SCTID:255107005 {source="EFO:0003101", source="DOID:5842", source="MONDO:equivalentTo"}
xref: SCTID:269603004 {source="DOID:5842"}
xref: SCTID:36741007 {source="DOID:5842"}
xref: SCTID:443675005 {source="DOID:5842"}
xref: UMLS:C5551428 {source="MEDGEN:1790467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002874 {source="NCIT:C7328"} ! testicular pure germ cell tumor
is_a: MONDO:0003001 {source="DOID:5842", source="MONDO:Redundant", source="NCIT:C7328"} ! seminoma
is_a: MONDO:0003510 {source="DOID:5842", source="MONDO:Redundant", source="NCIT:C7328"} ! malignant testicular germ cell tumor
intersection_of: MONDO:0003001 ! seminoma
intersection_of: disease_has_location UBERON:0000473 ! testis
relationship: disease_has_location UBERON:0000473 {source="EFO:0000784"} ! testis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma" xsd:anyURI {source="GARD:0004792"}

[Term]
id: MONDO:0003670
name: posteroinferior myocardial infarction
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart." [NCIT:C36068]
comment: Editor note: TODO: positional superclass
synonym: "posteroinferior myocardial infarction by ECG finding" EXACT [NCIT:C36068]
synonym: "posteroinferior myocardial infarction by EKG finding" EXACT [NCIT:C36068]
xref: DOID:5843 {source="MONDO:equivalentTo"}
xref: MEDGEN:216044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36068 {source="DOID:5843", source="MONDO:otherHierarchy"}
xref: UMLS:C1142433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:216044"}
is_a: MONDO:0005068 {source="DOID:5843"} ! myocardial infarction

[Term]
id: MONDO:0003671
name: septal myocardial infarction
def: "A myocardial infarction (disease) that involves the cardiac septum." [MONDO:patterns/location]
synonym: "cardiac septum myocardial infarction (disease)" EXACT [MONDO:patterns/location]
synonym: "myocardial infarction (disease) of cardiac septum" EXACT []
xref: DOID:5846 {source="MONDO:equivalentTo"}
xref: MEDGEN:148176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0746727 {source="MEDGEN:148176", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5846", source="MONDO:Redundant"} ! myocardial infarction
intersection_of: MONDO:0005068 ! myocardial infarction
intersection_of: disease_has_location UBERON:0002099 ! cardiac septum
relationship: disease_has_location UBERON:0004492 ! cardiac muscle tissue of cardiac septum

[Term]
id: MONDO:0003672
name: posterior myocardial infarction
synonym: "true posterior myocardial infarction" EXACT []
synonym: "true posterior wall infarction" RELATED []
xref: DOID:5847 {source="MONDO:equivalentTo"}
xref: MEDGEN:90949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194800006 {source="DOID:5847"}
xref: SCTID:194802003 {source="MONDO:equivalentTo"}
xref: UMLS:C0340319 {source="MEDGEN:90949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5847"} ! myocardial infarction

[Term]
id: MONDO:0003673
name: apical myocardial infarction
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart." [NCIT:P378]
xref: DOID:5848 {source="MONDO:equivalentTo"}
xref: MEDGEN:770959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36073 {source="MONDO:otherHierarchy", source="DOID:5848"}
xref: UMLS:C3642319 {source="MEDGEN:770959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5848"} ! myocardial infarction

[Term]
id: MONDO:0003674
name: subendocardial myocardial infarction
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart." [NCIT:P378]
synonym: "myocardial infarction (disease) of subendocardium layer" EXACT []
synonym: "subendocardium layer myocardial infarction (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5849 {source="MONDO:equivalentTo"}
xref: MEDGEN:75500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35305 {source="MONDO:otherHierarchy", source="DOID:5849"}
xref: UMLS:C0262568 {source="MEDGEN:75500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5849", source="MONDO:Redundant"} ! myocardial infarction
intersection_of: MONDO:0005068 ! myocardial infarction
intersection_of: disease_has_location UBERON:0005984 ! subendocardium layer

[Term]
id: MONDO:0003675
name: posterolateral myocardial infarction
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart." [NCIT:P378]
xref: DOID:5851 {source="MONDO:equivalentTo"}
xref: MEDGEN:207274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35672 {source="DOID:5851", source="MONDO:otherHierarchy"}
xref: UMLS:C1112662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:207274"}
is_a: MONDO:0005068 {source="DOID:5851"} ! myocardial infarction

[Term]
id: MONDO:0003676
name: inferolateral myocardial infarct
def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart." [NCIT:P378]
xref: DOID:5852 {source="MONDO:equivalentTo"}
xref: MEDGEN:760761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35673 {source="DOID:5852", source="MONDO:otherHierarchy"}
xref: UMLS:C3537017 {source="MONDO:equivalentTo", source="MEDGEN:760761", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5852"} ! myocardial infarction

[Term]
id: MONDO:0003677
name: lateral myocardial infarction
xref: DOID:5853 {source="MONDO:equivalentTo"}
xref: MEDGEN:83306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194801005 {source="DOID:5853"}
xref: UMLS:C0340312 {source="MEDGEN:83306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5853"} ! myocardial infarction

[Term]
id: MONDO:0003678
name: silent myocardial infarction
def: "A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings." [NCIT:C35400]
synonym: "silent myocardial infarction" EXACT [DOID:5854, NCIT:C35400]
xref: DOID:5854 {source="MONDO:equivalentTo"}
xref: MEDGEN:83307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35400 {source="DOID:5854", source="MONDO:equivalentTo"}
xref: SCTID:194796000 {source="DOID:5854"}
xref: SCTID:233843008 {source="DOID:5854", source="MONDO:equivalentTo"}
xref: UMLS:C0340324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83307"}
is_a: MONDO:0005068 {source="DOID:5854", source="NCIT:C35400"} ! myocardial infarction

[Term]
id: MONDO:0003679
name: anteroseptal myocardial infarction
xref: DOID:5855 {source="MONDO:equivalentTo"}
xref: MEDGEN:78087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056988 {source="MONDO:relatedTo", source="DOID:5855", source="MONDO:directSiblingOf"}
xref: UMLS:C0262565 {source="MEDGEN:78087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5855"} ! myocardial infarction

[Term]
id: MONDO:0003680
name: periosteal chondrosarcoma
alt_id: MONDO:0003683
def: "A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling." [NCIT:C7357]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrosarcoma (disease) of periosteum" EXACT []
synonym: "juxtacortical chondrosarcoma" EXACT [NCIT:C7357]
synonym: "juxtacortical chondrosarcoma (morphologic abnormality)" EXACT [DOID:5866]
synonym: "periosteal chondrosarcoma" EXACT [DOID:5859, NCIT:C7357]
synonym: "periosteum chondrosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:5859 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:5866 {source="MONDO:equivalentTo"}
xref: ICDO:9221/3 {source="NCIT:C7357"}
xref: MEDGEN:90806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7357 {source="MONDO:equivalentTo", source="DOID:5866"}
xref: SCTID:26211003 {source="DOID:5866"}
xref: UMLS:C0334549 {source="MEDGEN:90806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008977 {source="DOID:5859", source="DOID:5866", source="NCIT:C7357"} ! chondrosarcoma
is_a: MONDO:0021054 {source="NCIT:C7357"} ! bone sarcoma
intersection_of: MONDO:0008977 ! chondrosarcoma
intersection_of: disease_has_location UBERON:0002515 ! periosteum

[Term]
id: MONDO:0003681
name: myxoid chondrosarcoma
def: "A chondrosarcoma characterized by the presence of myxoid changes." [NCIT:C4303]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MYCHS" RELATED ABBREVIATION [ONCOTREE:MYCHS]
synonym: "myxoid chondrosarcoma" EXACT [NCIT:C4303]
xref: DOID:5861 {source="MONDO:equivalentTo"}
xref: ICDO:9231/3 {source="NCIT:C4303"}
xref: MEDGEN:87262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4303 {source="DOID:5861", source="MONDO:equivalentObsolete", source="MONDO:exact-label-match"}
xref: ONCOTREE:MYCHS {source="MONDO:equivalentTo"}
xref: SCTID:189881008 {source="DOID:5861"}
xref: SCTID:75622000 {source="DOID:5861"}
xref: UMLS:C0334551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87262"}
is_a: MONDO:0008977 {source="DOID:5861", source="NCIT:C4303", source="ONCOTREE:MYCHS"} ! chondrosarcoma

[Term]
id: MONDO:0003682
name: localized chondrosarcoma
def: "A non-disseminated skeletal or extraskeletal chondrosarcoma." [NCIT:C8778]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chondrosarcoma, localised" EXACT OMO:0003005 []
synonym: "chondrosarcoma, localized" EXACT [NCIT:C8778]
synonym: "localized chondrosarcoma" EXACT [NCIT:C8778]
xref: DOID:5862 {source="MONDO:equivalentTo"}
xref: MEDGEN:163180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8778 {source="DOID:5862", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0855011 {source="MEDGEN:163180", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008977 {source="DOID:5862", source="NCIT:C8778"} ! chondrosarcoma

[Term]
id: MONDO:0003684
name: clear cell chondrosarcoma
def: "A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones." [NCIT:C6475]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "clear cell chondrosarcoma" EXACT [DOID:5867, NCIT:C6475]
synonym: "clear cell chondrosarcoma (morphologic abnormality)" EXACT [DOID:5867]
xref: DOID:5867 {source="MONDO:equivalentTo"}
xref: ICDO:9242/3 {source="NCIT:C6475"}
xref: MEDGEN:226848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6475 {source="DOID:5867", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:128775007 {source="DOID:5867"}
xref: UMLS:C1266167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226848"}
is_a: MONDO:0008977 {source="DOID:5867", source="NCIT:C6475"} ! chondrosarcoma
is_a: MONDO:0021054 {source="NCIT:C6475"} ! bone sarcoma

[Term]
id: MONDO:0003685
name: retroperitoneal germ cell neoplasm
def: "A germ cell tumor that involves the retroperitoneal space." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "germ cell neoplasm of retroperitoneum" EXACT [NCIT:C6447]
synonym: "germ cell neoplasm of the retroperitoneum" EXACT [NCIT:C6447]
synonym: "germ cell tumor of retroperitoneum" EXACT [DOID:5874, NCIT:C6447]
synonym: "germ cell tumor of the retroperitoneum" EXACT [NCIT:C6447]
synonym: "germ cell tumour of retroperitoneum" EXACT OMO:0003005 []
synonym: "germ cell tumour of the retroperitoneum" EXACT OMO:0003005 []
synonym: "retroperitoneal germ cell tumor" EXACT [NCIT:C6447]
synonym: "retroperitoneal germ cell tumour" EXACT OMO:0003005 []
xref: DOID:5874 {source="MONDO:equivalentTo"}
xref: MEDGEN:233406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6447 {source="DOID:5874", source="MONDO:equivalentTo"}
xref: UMLS:C1335776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233406"}
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space
relationship: excluded_subClassOf MONDO:0005941 {source="DOID:5874", source="https://orcid.org/0000-0001-5208-3432"} ! retroperitoneal cancer

[Term]
id: MONDO:0003686
name: apocrine sweat gland neoplasm
def: "A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "apocrine neoplasm" EXACT [NCIT:C6798]
synonym: "apocrine neoplasm of skin" EXACT [NCIT:C6798]
synonym: "apocrine neoplasm of the skin" EXACT [NCIT:C6798]
synonym: "apocrine skin neoplasm" EXACT [NCIT:C6798]
synonym: "apocrine skin tumor" EXACT [NCIT:C6798]
synonym: "apocrine skin tumour" EXACT OMO:0003005 []
synonym: "apocrine sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "apocrine sweat gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "apocrine sweat gland tumour" EXACT OMO:0003005 []
synonym: "apocrine tumor" EXACT [DOID:5876, NCIT:C6798]
synonym: "apocrine tumor of skin" EXACT [NCIT:C6798]
synonym: "apocrine tumor of the skin" EXACT [NCIT:C6798]
synonym: "apocrine tumour" EXACT OMO:0003005 []
synonym: "apocrine tumour of skin" EXACT OMO:0003005 []
synonym: "apocrine tumour of the skin" EXACT OMO:0003005 []
synonym: "neoplasm of apocrine sweat gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of apocrine sweat gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of apocrine sweat gland" EXACT OMO:0003005 []
xref: DOID:5876 {source="MONDO:equivalentTo"}
xref: MEDGEN:272320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6798 {source="DOID:5876", source="MONDO:equivalentTo"}
xref: UMLS:C1332318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272320"}
is_a: MONDO:0002381 {source="DOID:5876", source="MONDO:Redundant", source="NCIT:C6798"} ! sweat gland neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000382 ! apocrine sweat gland

[Term]
id: MONDO:0003687
name: endocardium cancer
def: "A malignant neoplasm involving the endocardium." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of endocardium" EXACT [MONDO:patterns/cancer]
synonym: "endocardium cancer" EXACT [MONDO:patterns/location]
synonym: "malignant endocardial neoplasm" EXACT [NCIT:C4570]
synonym: "malignant endocardial tumor" EXACT [DOID:5877, NCIT:C4570]
synonym: "malignant endocardial tumour" EXACT OMO:0003005 []
synonym: "malignant endocardium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of endocardium" EXACT [DOID:5877, MONDO:patterns/cancer, NCIT:C4570]
synonym: "malignant neoplasm of the endocardium" EXACT [NCIT:C4570]
synonym: "malignant tumor of endocardium" EXACT [DOID:5877, NCIT:C4570]
synonym: "malignant tumor of the endocardium" EXACT [NCIT:C4570]
synonym: "malignant tumour of endocardium" EXACT OMO:0003005 []
synonym: "malignant tumour of the endocardium" EXACT OMO:0003005 []
xref: DOID:5877 {source="MONDO:equivalentTo"}
xref: MEDGEN:91107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4570 {source="MONDO:equivalentTo", source="DOID:5877"}
xref: NCIT:C5346 {source="DOID:5877"}
xref: SCTID:126731002 {source="DOID:5877"}
xref: SCTID:363436001 {source="MONDO:equivalentTo", source="DOID:5877"}
xref: SCTID:93778001 {source="DOID:5877"}
xref: UMLS:C0346612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91107"}
is_a: MONDO:0000470 {source="DOID:5877", source="MONDO:Redundant"} ! endocardium disorder
is_a: MONDO:0001340 {source="DOID:5877", source="MONDO:Redundant", source="NCIT:C4570"} ! heart cancer
is_a: MONDO:0021378 {source="MONDO:Redundant", source="NCIT:C4570"} ! neoplasm of endocardium
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002165 ! endocardium

[Term]
id: MONDO:0003688
name: well differentiated papillary mesothelioma
def: "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "benign intermediate mesothelioma" RELATED [DOID:5884]
synonym: "benign/Intermediate mesothelioma" EXACT [NCIT:C7635]
synonym: "WDPM" EXACT ABBREVIATION [NCIT:C7635]
synonym: "well differentiated papillary mesothelioma" EXACT [NCIT:C7635]
synonym: "well-differentiated mesothelial papillary neoplasm" EXACT [NCIT:C7635]
synonym: "well-differentiated mesothelial papillary tumor" EXACT [NCIT:C7635]
synonym: "well-differentiated mesothelial papillary tumour" EXACT OMO:0003005 []
synonym: "well-differentiated papillary neoplasm of mesothelium" EXACT [NCIT:C7635]
synonym: "well-differentiated papillary neoplasm of the mesothelium" EXACT [NCIT:C7635]
synonym: "well-differentiated papillary tumor of mesothelium" EXACT [DOID:5884, NCIT:C7635]
synonym: "well-differentiated papillary tumor of the mesothelium" EXACT [NCIT:C7635]
synonym: "well-differentiated papillary tumour of mesothelium" EXACT OMO:0003005 []
synonym: "well-differentiated papillary tumour of the mesothelium" EXACT OMO:0003005 []
xref: DOID:5884 {source="MONDO:equivalentTo"}
xref: ICDO:9052/1 {source="NCIT:C7635"}
xref: MEDGEN:234487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7635 {source="DOID:5884", source="MONDO:equivalentTo"}
xref: UMLS:C1337012 {source="MEDGEN:234487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005065 {source="NCIT:C7635"} ! mesothelioma

[Term]
id: MONDO:0003689
name: familial hemolytic anemia
def: "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." [NCIT:C34379]
subset: gard_rare {source="GARD:6167", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaemia hemolytic congenital" RELATED OMO:0003005 []
synonym: "anemia hemolytic congenital" RELATED [GARD:0006167]
synonym: "congenital hemolytic anaemia" EXACT OMO:0003005 []
synonym: "congenital hemolytic anemia" EXACT [NCIT:C34379]
synonym: "hereditary hemolytic anaemia" EXACT OMO:0003005 []
synonym: "hereditary hemolytic anemia" EXACT [DOID:589, MONDO:patterns/hereditary, NCIT:C34379]
xref: DOID:589 {source="MONDO:equivalentTo"}
xref: GARD:6167 {source="MONDO:GARD"}
xref: ICD10CM:D58.9 {source="DOID:589"}
xref: ICD9:282 {source="DOID:589"}
xref: ICD9:282.9 {source="DOID:589"}
xref: MEDGEN:1919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000745 {source="DOID:589", source="MONDO:equivalentTo"}
xref: NANDO:2100183 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34379 {source="DOID:589", source="MONDO:equivalentTo"}
xref: SCTID:154794008 {source="DOID:589"}
xref: SCTID:154801000 {source="DOID:589"}
xref: SCTID:191208008 {source="DOID:589"}
xref: SCTID:267556002 {source="DOID:589"}
xref: SCTID:267558001 {source="DOID:589"}
xref: SCTID:38911009 {source="DOID:589"}
xref: SCTID:42601008 {source="DOID:589", source="MONDO:equivalentTo"}
xref: UMLS:C0002881 {source="MEDGEN:1919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="DOID:589", source="MESH:D000745", source="MONDO:Redundant", source="NCIT:C34379"} ! hemolytic anemia
intersection_of: MONDO:0003664 ! hemolytic anemia
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia" xsd:anyURI {source="GARD:0006167"}

[Term]
id: MONDO:0003690
name: adult anaplastic ependymoma
def: "An anaplastic ependymoma occurring in adults." [NCIT:C8269]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult anaplastic ependymoma" EXACT [NCIT:C8269]
synonym: "adult malignant ependymoma" EXACT [NCIT:C8269]
synonym: "anaplastic ependymoma" BROAD [NCIT:C8269]
synonym: "anaplastic ependymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "malignant adult ependymoma" EXACT [NCIT:C8269]
xref: DOID:5890 {source="MONDO:equivalentTo"}
xref: MEDGEN:83709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8269 {source="MONDO:equivalentTo", source="DOID:5890"}
xref: UMLS:C0280787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83709"}
is_a: MONDO:0003266 {source="DOID:5890", source="NCIT:C8269/inferred"} ! ependymal tumor
is_a: MONDO:0016700 {source="MONDO:Redundant", source="NCIT:C8269"} ! anaplastic ependymoma
intersection_of: MONDO:0016700 ! anaplastic ependymoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003691
name: childhood malignant mesenchymoma
def: "A malignant mesenchymoma occurring in children." [NCIT:C8097]
synonym: "childhood malignant mesenchymoma" EXACT [NCIT:C8097]
synonym: "malignant mesenchymoma" BROAD [NCIT:C8097]
synonym: "malignant mesenchymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric malignant mesenchymoma" EXACT OMO:0003005 []
synonym: "pediatric malignant mesenchymoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:5893 {source="MONDO:equivalentTo"}
xref: MEDGEN:124688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8097 {source="DOID:5893", source="MONDO:equivalentTo"}
xref: UMLS:C0279991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124688"}
is_a: MONDO:0003633 {source="DOID:5893", source="MONDO:Redundant", source="NCIT:C8097"} ! malignant mesenchymoma
intersection_of: MONDO:0003633 ! malignant mesenchymoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003692
name: adult malignant mesenchymoma
def: "A malignant mesenchymoma occurring in adults." [NCIT:C7947]
synonym: "adult malignant mesenchymoma" EXACT [NCIT:C7947]
synonym: "malignant mesenchymoma" BROAD [NCIT:C7947]
synonym: "malignant mesenchymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:5894 {source="MONDO:equivalentTo"}
xref: MEDGEN:83523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7947 {source="DOID:5894", source="MONDO:equivalentTo"}
xref: UMLS:C0279548 {source="MEDGEN:83523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003633 {source="DOID:5894", source="MONDO:Redundant", source="NCIT:C7947"} ! malignant mesenchymoma
intersection_of: MONDO:0003633 ! malignant mesenchymoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003693
name: clear cell cystadenofibroma
def: "A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells." [NCIT:C8988]
synonym: "clear cell cystadenofibroma" EXACT [DOID:5895, NCIT:C8988]
xref: DOID:5895 {source="MONDO:equivalentTo"}
xref: MEDGEN:235121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8988 {source="DOID:5895", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:58161009 {source="DOID:5895"}
xref: UMLS:C1377853 {source="MEDGEN:235121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003460 {source="MONDO:Redundant", source="NCIT:C8988"} ! clear cell adenofibroma
is_a: MONDO:0003464 {source="DOID:5895", source="MONDO:Redundant", source="NCIT:C8988"} ! cystadenofibroma
intersection_of: MONDO:0003460 {source="NCIT:C8988"} ! clear cell adenofibroma
intersection_of: MONDO:0003464 {source="NCIT:C8988"} ! cystadenofibroma

[Term]
id: MONDO:0003694
name: ovarian clear cell cystadenofibroma
def: "A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures." [NCIT:C40086]
synonym: "clear cell cystadenofibroma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian clear cell cystadenofibroma" EXACT [NCIT:C40086]
synonym: "ovary clear cell cystadenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:5896 {source="MONDO:equivalentTo"}
xref: MEDGEN:275283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40086 {source="DOID:5896", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518695 {source="MEDGEN:275283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003693 {source="MONDO:Redundant", source="NCIT:C40086"} ! clear cell cystadenofibroma
is_a: MONDO:0003695 {source="DOID:5896", source="MONDO:Redundant", source="NCIT:C40086"} ! ovarian clear cell adenofibroma
intersection_of: MONDO:0003693 ! clear cell cystadenofibroma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003695
name: ovarian clear cell adenofibroma
def: "An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma." [NCIT:C40085]
synonym: "clear cell adenofibroma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian clear cell adenofibroma" EXACT [NCIT:C40085]
synonym: "ovary clear cell adenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:5897 {source="MONDO:equivalentTo"}
xref: MEDGEN:309502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40085 {source="DOID:5897", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518694 {source="MEDGEN:309502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000646 {source="DOID:5897", source="MONDO:Redundant", source="NCIT:C40085/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0003460 {source="MONDO:Redundant", source="NCIT:C40085"} ! clear cell adenofibroma
intersection_of: MONDO:0003460 ! clear cell adenofibroma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003696
name: obsolete meningeal melanocytoma
is_obsolete: true
replaced_by: MONDO:0016746

[Term]
id: MONDO:0003697
name: non-invasive verrucous carcinoma of the penis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "non-invasive penile verrucous carcinoma" EXACT [DOID:5907, NCIT:C27791]
synonym: "non-invasive verrucous carcinoma of penis" EXACT [NCIT:C27791]
synonym: "non-invasive verrucous carcinoma of the penis" EXACT [NCIT:C27791]
synonym: "penis non-invasive verrucous carcinoma" RELATED [DOID:5907]
xref: DOID:5907 {source="MONDO:equivalentTo"}
xref: MEDGEN:233765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27791 {source="MONDO:equivalentTo", source="DOID:5907"}
xref: UMLS:C1334984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233765"}
is_a: MONDO:0003698 {source="DOID:5907", source="MONDO:Redundant"} ! penis verrucous carcinoma
intersection_of: MONDO:0003698 ! penis verrucous carcinoma
intersection_of: has_characteristic PATO:0002132 ! neoplastic, non-invasive

[Term]
id: MONDO:0003698
name: penis verrucous carcinoma
def: "A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present." [NCIT:C6982]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "penis verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous carcinoma of penis, verrucous type" EXACT [NCIT:C6982]
synonym: "squamous carcinoma of the penis, verrucous type" EXACT [NCIT:C6982]
synonym: "verrucous carcinoma of penis" EXACT [NCIT:C6982]
synonym: "verrucous carcinoma of the penis" EXACT [NCIT:C6982]
synonym: "verrucous penile carcinoma" EXACT [NCIT:C6982]
synonym: "verrucous penile squamous carcinoma" EXACT [NCIT:C6982]
synonym: "verrucous penile squamous cell carcinoma" RELATED [ONCOTREE:VPSCC]
synonym: "verrucous squamous carcinoma of penis" EXACT [DOID:5908, NCIT:C6982]
synonym: "verrucous squamous carcinoma of the penis" EXACT [NCIT:C6982]
xref: DOID:5908 {source="MONDO:equivalentTo"}
xref: MEDGEN:234477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6982 {source="MONDO:equivalentTo", source="DOID:5908"}
xref: ONCOTREE:VPSCC {source="MONDO:equivalentTo"}
xref: UMLS:C1336955 {source="MONDO:equivalentTo", source="MEDGEN:234477", source="MONDO:MEDGEN"}
is_a: MONDO:0006006 {source="DOID:5908", source="MONDO:Redundant", source="NCIT:C6982"} ! verrucous carcinoma
is_a: MONDO:0018352 {source="DOID:5908", source="MONDO:Redundant", source="NCIT:C6982/inferred", source="NCIT:textdef", source="ONCOTREE:VPSCC"} ! squamous cell carcinoma of penis
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0003699
name: phobic disorder
def: "An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "phobia" EXACT [NCIT:C35420]
xref: DOID:591 {source="MONDO:equivalentTo"}
xref: EFO:1001908 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F40 {source="DOID:591"}
xref: ICD10CM:F40.9 {source="DOID:591"}
xref: ICD9:300.2 {source="DOID:591"}
xref: ICD9:300.20 {source="DOID:591"}
xref: MEDGEN:83881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010698 {source="MONDO:equivalentTo", source="DOID:591"}
xref: NCIT:C35420 {source="MONDO:equivalentTo", source="DOID:591"}
xref: SCTID:154884005 {source="DOID:591"}
xref: SCTID:191720001 {source="DOID:591"}
xref: SCTID:191721002 {source="DOID:591"}
xref: SCTID:191734001 {source="DOID:591"}
xref: SCTID:192393009 {source="DOID:591"}
xref: SCTID:192398000 {source="DOID:591"}
xref: SCTID:268630000 {source="DOID:591"}
xref: SCTID:386808001 {source="DOID:591"}
xref: SCTID:386810004 {source="MONDO:equivalentTo", source="DOID:591"}
xref: SCTID:52039009 {source="DOID:591"}
xref: SCTID:65673007 {source="DOID:591"}
xref: UMLS:C0349231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83881"}
is_a: MONDO:0005618 {source="DOID:591", source="EFO:1001908", source="MESH:D010698", source="NCIT:C35420"} ! anxiety disorder
relationship: realized_in MFOMD:0000122 ! phobia

[Term]
id: MONDO:0003700
name: brachial plexus neoplasm
def: "A neoplasm (disease) that involves the brachial nerve plexus." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brachial nerve plexus neoplasm" EXACT []
synonym: "brachial nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "brachial nerve plexus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "brachial nerve plexus tumour" EXACT OMO:0003005 []
synonym: "brachial plexus neoplasm" EXACT [NCIT:C5823]
synonym: "brachial plexus neoplasms" EXACT [NCIT:C5823]
synonym: "brachial plexus tumor" EXACT [NCIT:C5823]
synonym: "brachial plexus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of brachial nerve plexus" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of brachial plexus" EXACT [NCIT:C5823]
synonym: "neoplasm of the brachial plexus" EXACT [NCIT:C5823]
synonym: "tumor of brachial nerve plexus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of brachial plexus" EXACT [NCIT:C5823]
synonym: "tumor of the brachial plexus" EXACT [DOID:5913, NCIT:C5823]
synonym: "tumour of brachial nerve plexus" EXACT OMO:0003005 []
synonym: "tumour of brachial plexus" EXACT OMO:0003005 []
synonym: "tumour of the brachial plexus" EXACT OMO:0003005 []
xref: DOID:5913 {source="MONDO:equivalentTo"}
xref: MEDGEN:272380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5823 {source="MONDO:equivalentTo", source="DOID:5913", source="MONDO:exact-label-match"}
xref: UMLS:C1332602 {source="MEDGEN:272380", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003100 {source="DOID:5913", source="MONDO:Redundant", source="NCIT:C5823"} ! nerve plexus neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001814 ! brachial nerve plexus

[Term]
id: MONDO:0003701
name: thyroid gland diffuse sclerosing papillary carcinoma
def: "A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration." [NCIT:C7427]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "nonencapsulated sclerosing adenocarcinoma" EXACT [NCIT:C7427]
synonym: "nonencapsulated sclerosing carcinoma" EXACT [NCIT:C7427]
synonym: "nonencapsulated sclerosing neoplasm" EXACT [DOID:5914, NCIT:C7427]
synonym: "nonencapsulated sclerosing papillary thyroid carcinoma" EXACT [NCIT:C7427]
synonym: "nonencapsulated sclerosing tumor" EXACT [NCIT:C7427]
synonym: "nonencapsulated sclerosing tumour" EXACT OMO:0003005 []
synonym: "papillary carcinoma, diffuse sclerosing" EXACT [DOID:5914]
synonym: "thyroid gland diffuse sclerosing papillary carcinoma" EXACT [NCIT:C7427]
xref: DOID:5914 {source="MONDO:equivalentTo"}
xref: ICDO:8350/3 {source="NCIT:C7427"}
xref: MEDGEN:87218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7427 {source="MONDO:equivalentTo", source="DOID:5914"}
xref: SCTID:62681000 {source="DOID:5914"}
xref: UMLS:C0334330 {source="MEDGEN:87218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005075 {source="DOID:5914", source="NCIT:C7427"} ! thyroid gland papillary carcinoma

[Term]
id: MONDO:0003702
name: uterus intravascular leiomyomatosis
def: "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma." [NCIT:C5356]
synonym: "intravascular leiomyomatosis of the uterus" EXACT [NCIT:C5356]
synonym: "intravascular leiomyomatosis of uterus" EXACT [DOID:5915, NCIT:C5356]
synonym: "intravenous leiomyomatosis of the uterus" EXACT [NCIT:C5356]
synonym: "intravenous leiomyomatosis of uterus" EXACT [NCIT:C5356]
synonym: "uterine corpus intravenous leiomyomatosis" EXACT [NCIT:C5356]
synonym: "uterus intravenous leiomyomatosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5915 {source="MONDO:equivalentTo"}
xref: NCIT:C5356 {source="MONDO:equivalentTo"}
is_a: MONDO:0003614 {source="MONDO:Redundant", source="NCIT:C5356"} ! intravenous leiomyomatosis
intersection_of: MONDO:0003614 ! intravenous leiomyomatosis
intersection_of: disease_has_location UBERON:0000995 ! uterus
relationship: excluded_subClassOf MONDO:0003704 {source="DOID:5915", source="https://orcid.org/0000-0001-5208-3432"} ! uterine corpus diffuse leiomyomatosis

[Term]
id: MONDO:0003703
name: obsolete uterine corpus leiomyomatosis
is_obsolete: true
replaced_by: MONDO:0003704

[Term]
id: MONDO:0003704
name: uterine corpus diffuse leiomyomatosis
def: "An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body of uterus leiomyomatosis" EXACT [MONDO:patterns/location]
synonym: "leiomyomatosis of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus diffuse leiomyomatosis" EXACT [NCIT:C40170]
synonym: "uterine corpus leiomyomatosis" EXACT [MONDO:0003703]
xref: DOID:5916 {source="MONDO:equivalentTo"}
xref: DOID:5917 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MEDGEN:275556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40170 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5916"}
xref: UMLS:C1519855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275556"}
is_a: MONDO:0000632 {source="DOID:5916", source="MONDO:Redundant", source="MONDO:indirect"} ! uterine benign neoplasm
is_a: MONDO:0003295 {source="DOID:5916", source="DOID:5917/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C40170"} ! leiomyomatosis
is_a: MONDO:0021525 {source="NCIT:C40170"} ! benign neoplasm of corpus uteri
intersection_of: MONDO:0003295 ! leiomyomatosis
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0003705
name: adult brainstem mixed glioma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult brain stem mixed glioma" EXACT [DOID:5921, NCIT:C9371]
synonym: "adult brainstem mixed glioma" EXACT [NCIT:C9371]
xref: DOID:5921 {source="MONDO:equivalentTo"}
xref: MEDGEN:237180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9371 {source="MONDO:equivalentTo", source="DOID:5921"}
xref: UMLS:C1377915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237180"}
is_a: MONDO:0003153 {source="DOID:5921", source="NCIT:C9371"} ! adult brainstem glioma

[Term]
id: MONDO:0003706
name: adult brainstem astrocytoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult brain stem astrocytoma" EXACT [NCIT:C6954]
synonym: "adult brainstem astrocytoma" EXACT [NCIT:C6954]
xref: DOID:5922 {source="MONDO:equivalentTo"}
xref: MEDGEN:233962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6954 {source="DOID:5922", source="MONDO:equivalentTo"}
xref: UMLS:C1332191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233962"}
is_a: MONDO:0003153 {source="DOID:5922", source="NCIT:C6954"} ! adult brainstem glioma
is_a: MONDO:0003173 {source="NCIT:C6954"} ! brain stem astrocytic neoplasm

[Term]
id: MONDO:0003707
name: distal biliary tract carcinoma
def: "A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma of distal biliary tract" EXACT [NCIT:C7109]
synonym: "carcinoma of the distal biliary tract" EXACT [DOID:5923, NCIT:C7109]
synonym: "distal bile duct cancer" EXACT [NCIT:C7109]
synonym: "distal bile duct carcinoma" EXACT [NCIT:C7109]
synonym: "distal biliary tract carcinoma" EXACT [NCIT:C7109]
synonym: "extrahepatic (distal) bile duct cancer" EXACT [NCIT:C7109]
xref: DOID:5923 {source="MONDO:equivalentTo"}
xref: MEDGEN:232133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7109 {source="MONDO:equivalentTo", source="DOID:5923"}
xref: UMLS:C1333308 {source="MEDGEN:232133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003090 {source="NCIT:C7109"} ! extrahepatic bile duct carcinoma
is_a: MONDO:0005496 {source="DOID:5923", source="MONDO:Redundant", source="NCIT:C7109/inferred"} ! bile duct carcinoma

[Term]
id: MONDO:0003708
name: extrahepatic bile duct small cell adenocarcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "extrahepatic bile duct small cell NEC" EXACT [NCIT:C5845]
synonym: "extrahepatic bile duct small cell neuroendocrine carcinoma" EXACT [NCIT:C5845]
synonym: "Oat cell carcinoma of extrahepatic bile duct" EXACT [NCIT:C5845]
synonym: "Oat cell carcinoma of the extrahepatic bile duct" EXACT [NCIT:C5845]
synonym: "Oat cell extrahepatic bile duct carcinoma" EXACT [DOID:5926, NCIT:C5845]
synonym: "small cell adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5845]
synonym: "small cell adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C5845]
synonym: "small cell extrahepatic bile duct carcinoma" EXACT [NCIT:C5845]
synonym: "small cell extrahepatic bile duct neuroendocrine carcinoma" EXACT [NCIT:C5845]
xref: DOID:5926 {source="MONDO:equivalentTo"}
xref: MEDGEN:277648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5845 {source="MONDO:equivalentTo", source="DOID:5926"}
xref: UMLS:C1335979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277648"}
is_a: MONDO:0000402 {source="NCIT:C5845"} ! small cell carcinoma
is_a: MONDO:0002665 {source="DOID:5926"} ! extrahepatic bile duct adenocarcinoma

[Term]
id: MONDO:0003709
name: agoraphobia
def: "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fear of open spaces" EXACT [DOID:593]
synonym: "fear of open spaces (finding)" EXACT [DOID:593]
xref: DOID:593 {source="MONDO:equivalentTo"}
xref: EFO:1001872 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F40.0 {source="MONDO:equivalentTo", source="DOID:593"}
xref: ICD10CM:F40.00 {source="DOID:593"}
xref: MEDGEN:175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000379 {source="MONDO:equivalentTo", source="DOID:593"}
xref: NCIT:C34362 {source="MONDO:equivalentTo", source="DOID:593"}
xref: SCTID:154885006 {source="DOID:593"}
xref: SCTID:192394003 {source="DOID:593"}
xref: SCTID:247830007 {source="DOID:593"}
xref: SCTID:70691001 {source="MONDO:equivalentTo", source="DOID:593"}
xref: UMLS:C0001818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:175"}
is_a: MONDO:0003699 {source="DOID:593", source="EFO:1001872", source="NCIT:C34362"} ! phobic disorder

[Term]
id: MONDO:0003710
name: ovarian mixed germ cell neoplasm
def: "An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mixed germ cell neoplasm of ovary" EXACT [NCIT:C8114]
synonym: "mixed germ cell neoplasm of the ovary" EXACT [NCIT:C8114]
synonym: "mixed germ cell tumor" RELATED [ONCOTREE:OMGCT]
synonym: "mixed germ cell tumor of ovary" EXACT [DOID:5936, NCIT:C8114]
synonym: "mixed germ cell tumor of the ovary" EXACT [NCIT:C8114]
synonym: "mixed germ cell tumour" RELATED OMO:0003005 []
synonym: "mixed germ cell tumour of ovary" EXACT OMO:0003005 []
synonym: "mixed germ cell tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian mixed germ cell neoplasm" EXACT [NCIT:C8114]
synonym: "ovarian mixed germ cell tumor" EXACT [NCIT:C8114]
synonym: "ovarian mixed germ cell tumour" EXACT OMO:0003005 []
synonym: "ovary mixed germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "ovary mixed germ cell tumour" EXACT OMO:0003005 []
xref: DOID:5936 {source="MONDO:equivalentTo"}
xref: MEDGEN:83602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8114 {source="MONDO:equivalentTo", source="DOID:5936"}
xref: ONCOTREE:OMGCT {source="MONDO:equivalentTo"}
xref: UMLS:C0280135 {source="MONDO:equivalentTo", source="MEDGEN:83602", source="MONDO:MEDGEN"}
is_a: MONDO:0003408 {source="DOID:5936", source="MONDO:Redundant", source="NCIT:C8114"} ! ovarian primitive germ cell tumor
is_a: MONDO:0015864 {source="DOID:5936", source="MONDO:Redundant", source="NCIT:C8114"} ! mixed germ cell tumor
intersection_of: MONDO:0015864 ! mixed germ cell tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003711
name: obsolete malignant peripheral nerve sheath tumor
is_obsolete: true
replaced_by: MONDO:0017827

[Term]
id: MONDO:0003712
name: angiokeratoma of mibelli
xref: DOID:5948 {source="MONDO:equivalentTo"}
xref: MEDGEN:78100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3927 {source="MONDO:equivalentTo", source="DOID:5948"}
xref: SCTID:62727008 {source="MONDO:equivalentTo", source="DOID:5948"}
xref: UMLS:C0263640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78100"}
is_a: MONDO:0003143 {source="DOID:5948", source="NCIT:C3927"} ! angiokeratoma

[Term]
id: MONDO:0003713
name: angiokeratoma circumscriptum
xref: DOID:5949 {source="MONDO:equivalentTo"}
xref: MEDGEN:120485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7751 {source="MONDO:equivalentTo", source="DOID:5949"}
xref: SCTID:21848000 {source="MONDO:equivalentTo", source="DOID:5949"}
xref: UMLS:C0263638 {source="MEDGEN:120485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002531 {source="DOID:5949", source="MONDO:Redundant"} ! skin neoplasm
is_a: MONDO:0003143 {source="NCIT:C7751"} ! angiokeratoma

[Term]
id: MONDO:0003714
name: bladder urachal squamous cell carcinoma
synonym: "bladder urachal squamous cell carcinoma" EXACT [NCIT:C39845]
xref: DOID:5957 {source="MONDO:equivalentTo"}
xref: MEDGEN:307289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39845 {source="MONDO:equivalentTo", source="DOID:5957", source="MONDO:exact-label-match"}
xref: UMLS:C1511206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307289"}
is_a: MONDO:0002760 {source="MONDO:Redundant", source="NCIT:C39845"} ! bladder squamous cell carcinoma
is_a: MONDO:0003715 {source="DOID:5957", source="MONDO:Redundant", source="NCIT:C39845"} ! bladder urachal carcinoma
intersection_of: MONDO:0002760 ! bladder squamous cell carcinoma
intersection_of: disease_arises_from_structure UBERON:0011202 ! urachus epithelium

[Term]
id: MONDO:0003715
name: bladder urachal carcinoma
def: "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer." [GARD:0007836]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder urachal cancer" EXACT [NCIT:C39842]
synonym: "bladder urachal carcinoma" EXACT [NCIT:C39842]
synonym: "urachal carcinoma" RELATED [GARD:0007836, ONCOTREE:URCA]
xref: DOID:5958 {source="MONDO:equivalentTo"}
xref: MEDGEN:419015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536475 {source="MONDO:equivalentTo"}
xref: NCIT:C39842 {source="MONDO:equivalentTo", source="DOID:5958", source="MONDO:exact-label-match"}
xref: ONCOTREE:URCA {source="MONDO:equivalentTo"}
xref: UMLS:C2931202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419015"}
is_a: MONDO:0004986 {source="DOID:5958", source="MONDO:Redundant", source="NCIT:C39842"} ! urinary bladder carcinoma
intersection_of: MONDO:0004986 ! urinary bladder carcinoma
intersection_of: disease_arises_from_structure UBERON:0011202 ! urachus epithelium

[Term]
id: MONDO:0003716
name: renal pelvis papillary urothelial carcinoma
def: "A papillary transitional cell carcinoma that arises from the renal pelvis." [NCIT:C6148, NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "kidney pelvis papillary carcinoma" EXACT [NCIT:C6148]
synonym: "papillary carcinoma of kidney pelvis" EXACT [NCIT:C6148]
synonym: "papillary carcinoma of renal pelvis" EXACT [DOID:5973, NCIT:C6148]
synonym: "papillary carcinoma of the kidney pelvis" EXACT [NCIT:C6148]
synonym: "papillary carcinoma of the renal pelvis" EXACT [NCIT:C6148]
synonym: "renal pelvis papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "renal pelvis papillary urothelial carcinoma" EXACT [NCIT:C6148]
xref: DOID:5973 {source="MONDO:equivalentTo"}
xref: MEDGEN:237178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6148 {source="DOID:5973", source="MONDO:equivalentTo"}
xref: UMLS:C1377909 {source="MEDGEN:237178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003717 {source="NCIT:C6148"} ! renal pelvis papillary tumor
is_a: MONDO:0005221 {source="DOID:5973", source="MONDO:Redundant", source="NCIT:C6148"} ! renal pelvis urothelial carcinoma
is_a: MONDO:0006350 {source="MONDO:Redundant", source="NCIT:C6148"} ! papillary transitional cell carcinoma
is_a: MONDO:0006509 {source="DOID:5973", source="MONDO:Redundant", source="NCIT:C6148/inferred"} ! papillary carcinoma
intersection_of: MONDO:0006509 ! papillary carcinoma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0003717
name: renal pelvis papillary tumor
def: "A papillary tumor originating in the renal pelvis." [NCIT:P378]
synonym: "papillary neoplasm of renal pelvis" EXACT [DOID:5975, NCIT:C8603]
synonym: "papillary neoplasm of the renal pelvis" EXACT [NCIT:C8603]
synonym: "papillary tumor of renal pelvis" EXACT [NCIT:C8603]
synonym: "papillary tumor of the renal pelvis" EXACT [NCIT:C8603]
synonym: "papillary tumour of renal pelvis" EXACT OMO:0003005 []
synonym: "papillary tumour of the renal pelvis" EXACT OMO:0003005 []
synonym: "renal pelvis papillary tumor" EXACT [NCIT:C8603]
synonym: "renal pelvis papillary urothelial neoplasm" EXACT [NCIT:C8603]
xref: DOID:5975 {source="MONDO:equivalentTo"}
xref: MEDGEN:163120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8603 {source="DOID:5975", source="MONDO:equivalentTo"}
xref: UMLS:C0853688 {source="MONDO:equivalentTo", source="MEDGEN:163120", source="MONDO:MEDGEN"}
is_a: MONDO:0003443 {source="NCIT:C8603"} ! papillary urothelial neoplasm
is_a: MONDO:0003719 {source="DOID:5975", source="NCIT:C8603"} ! renal pelvis neoplasm

[Term]
id: MONDO:0003718
name: occlusion precerebral artery
subset: otar {source="MONDO:OTAR"}
synonym: "occlusion and stenosis of multiple and bilateral precerebral arteries" RELATED [DOID:5976]
synonym: "occlusion and stenosis of precerebral artery" RELATED [DOID:5976]
xref: DOID:5976 {source="MONDO:equivalentTo"}
xref: EFO:0009677 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I65.9 {source="DOID:5976"}
xref: ICD9:433 {source="DOID:5976"}
xref: ICD9:433.3 {source="DOID:5976"}
xref: ICD9:433.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:433.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:433.9 {source="DOID:5976"}
xref: MEDGEN:539069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28790007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539069"}
is_a: MONDO:0011057 {source="DOID:5976"} ! cerebrovascular disorder

[Term]
id: MONDO:0003719
name: renal pelvis neoplasm
def: "A neoplasm (disease) that involves the renal pelvis." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "kidney pelvis neoplasm" EXACT [NCIT:C8404]
synonym: "kidney pelvis tumor" EXACT [NCIT:C8404]
synonym: "kidney pelvis tumour" EXACT OMO:0003005 []
synonym: "neoplasm of kidney pelvis" EXACT [NCIT:C8404]
synonym: "neoplasm of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404]
synonym: "neoplasm of the kidney pelvis" EXACT [NCIT:C8404]
synonym: "neoplasm of the renal pelvis" EXACT [NCIT:C8404]
synonym: "renal pelvis neoplasm" EXACT [NCIT:C8404]
synonym: "renal pelvis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "renal pelvis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C8404]
synonym: "renal pelvis tumour" EXACT OMO:0003005 []
synonym: "tumor of kidney pelvis" EXACT [DOID:5977, NCIT:C8404]
synonym: "tumor of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404]
synonym: "tumor of the kidney pelvis" EXACT [NCIT:C8404]
synonym: "tumor of the renal pelvis" EXACT [NCIT:C8404]
synonym: "tumour of kidney pelvis" EXACT OMO:0003005 []
synonym: "tumour of renal pelvis" EXACT OMO:0003005 []
synonym: "tumour of the kidney pelvis" EXACT OMO:0003005 []
synonym: "tumour of the renal pelvis" EXACT OMO:0003005 []
xref: DOID:5977 {source="MONDO:equivalentTo"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8404 {source="DOID:5977", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126881002 {source="DOID:5977", source="MONDO:equivalentTo"}
xref: SCTID:254926009 {source="DOID:5977"}
xref: UMLS:C0346260 {source="MEDGEN:138049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C8404"} ! kidney neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0003720
name: kidney fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C7726]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fibrosarcoma of kidney" EXACT [NCIT:C7726]
synonym: "fibrosarcoma of the kidney" EXACT [DOID:5982, NCIT:C7726]
synonym: "kidney fibrosarcoma" EXACT [NCIT:C7726]
synonym: "kidney fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "renal fibrosarcoma" EXACT [NCIT:C7726]
xref: DOID:5982 {source="MONDO:equivalentTo"}
xref: MEDGEN:116050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7726 {source="DOID:5982", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0238208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116050"}
is_a: MONDO:0002930 {source="DOID:5982", source="MONDO:Redundant", source="NCIT:C7726"} ! kidney sarcoma
is_a: MONDO:0005164 {source="DOID:5982", source="MONDO:Redundant", source="NCIT:C7726/inferred"} ! fibrosarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0003721
name: kidney osteogenic sarcoma
def: "An osteosarcoma arising from the kidney." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "kidney extraskeletal osteosarcoma" EXACT [NCIT:C6181]
synonym: "kidney osteogenic sarcoma" EXACT [NCIT:C6181]
synonym: "kidney osteosarcoma" EXACT [NCIT:C6181]
synonym: "kidney osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteogenic sarcoma of kidney" EXACT [NCIT:C6181]
synonym: "osteogenic sarcoma of the kidney" EXACT [NCIT:C6181]
synonym: "osteosarcoma of kidney" EXACT [NCIT:C6181]
synonym: "osteosarcoma of the kidney" EXACT [NCIT:C6181]
synonym: "renal extraskeletal osteosarcoma" EXACT [NCIT:C6181]
synonym: "renal osteogenic sarcoma" EXACT [DOID:5983, NCIT:C6181]
synonym: "renal osteosarcoma" EXACT [NCIT:C6181]
xref: DOID:5983 {source="MONDO:equivalentTo"}
xref: MEDGEN:235547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6181 {source="DOID:5983", source="MONDO:equivalentTo"}
xref: UMLS:C1335747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235547"}
is_a: MONDO:0002621 {source="NCIT:C6181"} ! extraosseous osteosarcoma
is_a: MONDO:0002930 {source="DOID:5983", source="MONDO:Redundant", source="NCIT:C6181"} ! kidney sarcoma
is_a: MONDO:0009807 {source="DOID:5983", source="MONDO:0003721/inferred", source="MONDO:Entailed", source="NCIT:C6181/inferred"} ! osteosarcoma
intersection_of: MONDO:0009807 ! osteosarcoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0003722
name: internal auditory canal meningioma
def: "A meningioma that affects the internal auditory canal." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "internal acoustic meatus meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of internal acoustic meatus" EXACT []
synonym: "meningioma of internal auditory canal" EXACT [NCIT:C5307]
synonym: "meningioma of the internal auditory canal" EXACT [DOID:5990, NCIT:C5307]
xref: DOID:5990 {source="MONDO:equivalentTo"}
xref: MEDGEN:235221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5307 {source="MONDO:equivalentTo", source="DOID:5990"}
xref: UMLS:C1334227 {source="MEDGEN:235221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003121 {source="NCIT:C5307"} ! middle cranial fossa meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0011859 ! internal acoustic meatus
relationship: excluded_subClassOf MONDO:0002998 {source="NCIT:C5307", source="https://orcid.org/0000-0001-5208-3432"} ! skull base meningioma
relationship: excluded_subClassOf MONDO:0004532 {source="DOID:5990", source="https://orcid.org/0000-0001-5208-3432"} ! auditory system cancer

[Term]
id: MONDO:0003723
name: blunt duct adenosis of breast
def: "Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia." [NCIT:P378]
synonym: "blunt duct adenosis of the breast" EXACT [NCIT:C6941]
synonym: "breast blunt duct adenosis" EXACT [NCIT:C6941]
xref: DOID:5996 {source="MONDO:equivalentObsolete"}
xref: NCIT:C6941 {source="MONDO:equivalentObsolete", source="DOID:5996"}
is_a: MONDO:0003724 {source="NCIT:C6941"} ! non-proliferative fibrocystic change of the breast
is_a: MONDO:0003725 {source="DOID:5996", source="NCIT:C6941"} ! breast adenosis

[Term]
id: MONDO:0003724
name: non-proliferative fibrocystic change of the breast
def: "Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia." [NCIT:P378]
synonym: "breast fibrocystic change, non-proliferative type" EXACT [NCIT:C6943]
synonym: "non-proliferative fibrocystic change" EXACT [DOID:5997, NCIT:C6943]
synonym: "non-proliferative fibrocystic change of breast" EXACT [NCIT:C6943]
xref: DOID:5997 {source="MONDO:equivalentTo"}
xref: MEDGEN:231966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6943 {source="DOID:5997", source="MONDO:equivalentTo"}
xref: UMLS:C1332628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231966"}
is_a: MONDO:0005219 {source="DOID:5997", source="NCIT:C6943"} ! breast fibrocystic disease

[Term]
id: MONDO:0003725
name: breast adenosis
def: "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis." [NCIT:C3484]
subset: otar {source="MONDO:OTAR"}
synonym: "adenosis" BROAD [NCIT:C3484]
synonym: "adenosis - breast" EXACT [DOID:5998]
synonym: "adenosis of breast" EXACT [NCIT:C3484]
synonym: "adenosis of the breast" EXACT [DOID:5998, NCIT:C3484]
synonym: "breast adenosis" EXACT [NCIT:C3484]
synonym: "microglandular adenosis" RELATED [DOID:5998]
xref: DOID:5998 {source="MONDO:equivalentTo"}
xref: EFO:0006891 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:39336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005348 {source="MONDO:relatedTo", source="DOID:5998"}
xref: NCIT:C3484 {source="MONDO:equivalentTo", source="DOID:5998"}
xref: SCTID:270893004 {source="DOID:5998"}
xref: UMLS:C0085750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39336"}
is_a: MONDO:0002657 {source="DOID:5998", source="NCIT:C3484/inferred"} ! breast disorder
disjoint_from: MONDO:0005070 ! neoplasm
relationship: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003726
name: apocrine adenosis of breast
def: "Breast adenosis characterized by the presence of extensive apocrine metaplasia." [NCIT:C5198]
synonym: "apocrine adenosis of breast" EXACT [NCIT:C5198]
synonym: "apocrine adenosis of the breast" EXACT [DOID:5999, NCIT:C5198]
synonym: "breast apocrine adenosis" EXACT [NCIT:C5198]
xref: DOID:5999 {source="MONDO:equivalentTo"}
xref: MEDGEN:231072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5198 {source="DOID:5999", source="MONDO:equivalentTo"}
xref: UMLS:C1332314 {source="MEDGEN:231072", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003724 {source="DOID:5999", source="NCIT:C5198"} ! non-proliferative fibrocystic change of the breast
is_a: MONDO:0003725 {source="NCIT:C5198"} ! breast adenosis

[Term]
id: MONDO:0003727
name: animal phobia
def: "An overwhelming, irrational, and persistent fear of animals." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fear of animals" EXACT [DOID:600]
synonym: "fear of animals (finding)" EXACT [DOID:600]
synonym: "zoophobia" EXACT [DOID:600]
synonym: "zoophobia (finding)" EXACT [DOID:600]
xref: DOID:600 {source="MONDO:equivalentTo"}
xref: EFO:1001876 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:65440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35273 {source="DOID:600", source="MONDO:equivalentTo"}
xref: SCTID:192396001 {source="DOID:600"}
xref: SCTID:54307006 {source="DOID:600"}
xref: UMLS:C0233711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65440"}
is_a: MONDO:0012000 {source="DOID:600", source="EFO:1001876", source="NCIT:C35273"} ! specific phobia

[Term]
id: MONDO:0003728
name: breast fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C5185]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast fibrosarcoma" EXACT [NCIT:C5185]
synonym: "breast fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "fibrosarcoma of breast" EXACT [NCIT:C5185]
synonym: "fibrosarcoma of the breast" EXACT [DOID:6001, NCIT:C5185]
xref: DOID:6001 {source="MONDO:equivalentTo"}
xref: MEDGEN:272385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5185 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6001"}
xref: UMLS:C1332630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272385"}
is_a: MONDO:0002490 {source="DOID:6001", source="MONDO:Redundant", source="NCIT:C5185"} ! breast sarcoma
is_a: MONDO:0005164 {source="DOID:6001", source="MONDO:Redundant", source="NCIT:C5185/inferred"} ! fibrosarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003729
name: aleukemic leukemia cutis
def: "Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process." [NCIT:C4983]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aleukemic leukemia cutis" EXACT [NCIT:C4983]
synonym: "leukaemia subleukemic" RELATED OMO:0003005 []
synonym: "leukemia subleukemic" RELATED [GARD:0006892]
xref: DOID:6003 {source="MONDO:equivalentTo"}
xref: MEDGEN:168394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4983 {source="DOID:6003", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0887846 {source="MEDGEN:168394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003730 {source="DOID:6003", source="NCIT:C4983"} ! aleukemic leukemia

[Term]
id: MONDO:0003730
name: aleukemic leukemia
def: "A leukemia characterized by the absence of leukemic cells in the peripheral blood." [NCIT:C4982]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "aleukemic leukemia" EXACT [NCIT:C4982]
synonym: "aleukemic myelosis" RELATED [DOID:6004]
synonym: "subleukemic leukaemia" RELATED OMO:0003005 []
synonym: "subleukemic leukemia" RELATED [DOID:12965]
xref: DOID:12965 {source="MONDO:equivalentTo"}
xref: DOID:6004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: ICD9:208.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:164094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4982 {source="DOID:6004", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:112688008 {source="DOID:6004"}
xref: SCTID:154602005 {source="DOID:6004"}
xref: SCTID:190028007 {source="DOID:6004"}
xref: SCTID:269633006 {source="DOID:6004"}
xref: SCTID:302856006 {source="DOID:6004", source="MONDO:equivalentTo"}
xref: UMLS:C0877858 {source="MEDGEN:164094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005059 {source="DOID:12965", source="DOID:6004", source="NCIT:C4982"} ! leukemia

[Term]
id: MONDO:0003731
name: adult central nervous system teratoma
def: "A mature or immature teratoma affecting the central nervous system and occurring in adults." [NCIT:C5794]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult central nervous system teratoma" EXACT [NCIT:C5794]
synonym: "adult CNS teratoma" EXACT [NCIT:C5794]
synonym: "Central nervous system teratoma" EXACT [NCIT:C5794]
synonym: "central nervous system teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "teratoma of adult central nervous system" EXACT [NCIT:C5794]
synonym: "teratoma of adult CNS" EXACT [NCIT:C5794]
synonym: "teratoma of the adult central nervous system" EXACT [DOID:6015, NCIT:C5794]
synonym: "teratoma of the adult CNS" EXACT [NCIT:C5794]
xref: DOID:6015 {source="MONDO:equivalentTo"}
xref: MEDGEN:234583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5794 {source="DOID:6015", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1370506 {source="MEDGEN:234583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002718 {source="DOID:6015", source="MONDO:Redundant", source="NCIT:C5794"} ! central nervous system teratoma
is_a: MONDO:0003405 {source="MONDO:Redundant", source="NCIT:C5794"} ! adult central nervous system germ cell tumor
is_a: MONDO:0003516 {source="MONDO:Redundant", source="NCIT:C5794"} ! adult teratoma
intersection_of: MONDO:0002718 ! central nervous system teratoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003732
name: adult central nervous system mature teratoma
def: "A central nervous system mature teratoma that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult central nervous system mature teratoma" EXACT [NCIT:C27400]
synonym: "central nervous system mature teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6016 {source="MONDO:equivalentTo"}
xref: MEDGEN:231037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27400 {source="DOID:6016", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231037"}
is_a: MONDO:0003731 {source="DOID:6016", source="MONDO:Redundant", source="NCIT:C27400"} ! adult central nervous system teratoma
is_a: MONDO:0003733 {source="MONDO:Redundant", source="NCIT:C27400"} ! central nervous system mature teratoma
intersection_of: MONDO:0003733 ! central nervous system mature teratoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003733
name: central nervous system mature teratoma
def: "A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)" [NCIT:C7013]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system mature teratoma" EXACT [MONDO:patterns/location, NCIT:C7013]
synonym: "CNS mature teratoma" EXACT [NCIT:C7013]
synonym: "mature teratoma" RELATED [ONCOTREE:BMT]
synonym: "mature teratoma of central nervous system" EXACT [NCIT:C7013]
synonym: "mature teratoma of CNS" EXACT [NCIT:C7013]
synonym: "mature teratoma of the central nervous system" EXACT [NCIT:C7013]
synonym: "mature teratoma of the CNS" EXACT [DOID:6017, NCIT:C7013]
xref: DOID:6017 {source="MONDO:equivalentTo"}
xref: MEDGEN:234103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7013 {source="DOID:6017", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:BMT {source="MONDO:equivalentTo"}
xref: UMLS:C1332886 {source="MONDO:equivalentTo", source="MEDGEN:234103", source="MONDO:MEDGEN"}
is_a: MONDO:0002718 {source="DOID:6017", source="MONDO:Redundant", source="NCIT:C7013"} ! central nervous system teratoma
is_a: MONDO:0003517 {source="DOID:6017", source="MONDO:Redundant", source="NCIT:C7013"} ! mature teratoma
intersection_of: MONDO:0003517 ! mature teratoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003734
name: adult central nervous system immature teratoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult central nervous system immature teratoma" EXACT [NCIT:C27401]
xref: DOID:6018 {source="MONDO:equivalentTo"}
xref: MEDGEN:231036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27401 {source="DOID:6018", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231036"}
is_a: MONDO:0003731 {source="DOID:6018", source="MONDO:Redundant", source="NCIT:C27401"} ! adult central nervous system teratoma
is_a: MONDO:0003735 {source="MONDO:Redundant", source="NCIT:C27401"} ! central nervous system immature teratoma
intersection_of: MONDO:0003731 {source="NCIT:C27401"} ! adult central nervous system teratoma
intersection_of: MONDO:0003735 {source="NCIT:C27401"} ! central nervous system immature teratoma

[Term]
id: MONDO:0003735
name: central nervous system immature teratoma
def: "A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)" [NCIT:C7014]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system immature teratoma" EXACT [NCIT:C7014]
synonym: "CNS immature teratoma" EXACT [NCIT:C7014]
synonym: "immature teratoma" RELATED [ONCOTREE:BIMT]
synonym: "immature teratoma of central nervous system" EXACT [NCIT:C7014]
synonym: "immature teratoma of CNS" EXACT [NCIT:C7014]
synonym: "immature teratoma of the central nervous system" EXACT [NCIT:C7014]
synonym: "immature teratoma of the CNS" EXACT [DOID:6019, NCIT:C7014]
xref: DOID:6019 {source="MONDO:equivalentTo"}
xref: MEDGEN:272442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7014 {source="DOID:6019", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:BIMT {source="MONDO:equivalentTo"}
xref: UMLS:C1332883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272442"}
is_a: MONDO:0002718 {source="DOID:6019", source="NCIT:C7014"} ! central nervous system teratoma

[Term]
id: MONDO:0003736
name: cancerophobia
def: "An overwhelming, irrational, and persistent fear of being diagnosed with cancer." [NCIT:P378]
synonym: "cancer phobia" EXACT [DOID:602]
synonym: "Cancerphobia" EXACT [NCIT:C35492]
synonym: "fear of getting cancer" EXACT [DOID:602]
synonym: "fear of getting cancer (finding)" EXACT [DOID:602]
xref: DOID:602 {source="MONDO:equivalentTo"}
xref: MEDGEN:115929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35492 {source="DOID:602", source="MONDO:equivalentTo"}
xref: SCTID:191730005 {source="DOID:602"}
xref: SCTID:300930008 {source="DOID:602"}
xref: SCTID:34563004 {source="DOID:602"}
xref: UMLS:C0233705 {source="MEDGEN:115929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000600 {source="DOID:602", source="EFO:1001879"} ! nosophobia
is_a: MONDO:0012000 {source="DOID:602/inferred", source="EFO:1001879/inferred", source="NCIT:C35492"} ! specific phobia

[Term]
id: MONDO:0003737
name: malignant testicular Leydig cell tumor
def: "A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:6021 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:271769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39942 {source="MONDO:equivalentTo", source="DOID:6021"}
xref: UMLS:C1515288 {source="MEDGEN:271769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000377 {source="DOID:6021", source="MONDO:Redundant", source="NCIT:C39942"} ! malignant Leydig cell tumor
is_a: MONDO:0003124 {source="MONDO:Redundant", source="NCIT:C39942"} ! testicular Leydig cell tumor
intersection_of: MONDO:0003124 ! testicular Leydig cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003738
name: selective IgE deficiency disease
def: "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "selective IgE immunodeficiency" EXACT [DOID:6024, NCIT:C27143]
synonym: "selective immunoglobulin E deficiency" EXACT [DOID:6024]
xref: DOID:6024 {source="MONDO:equivalentTo"}
xref: ICD9:279.03 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27143 {source="MONDO:equivalentTo", source="DOID:6024"}
xref: SCTID:234540007 {source="MONDO:equivalentTo", source="DOID:6024"}
xref: UMLS:C0398694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96020"}
is_a: MONDO:0001342 {source="DOID:6024"} ! dysgammaglobulinemia
is_a: MONDO:0003739 {source="DOID:6024/inferred", source="NCIT:C27143"} ! selective immunoglobulin deficiency disease

[Term]
id: MONDO:0003739
name: selective immunoglobulin deficiency disease
def: "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." [NCIT:C27870]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "selective Immunoglobulin isotype deficiency" EXACT [NCIT:C27870]
xref: DOID:6025 {source="MONDO:equivalentTo"}
xref: MEDGEN:235584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27870 {source="DOID:6025", source="MONDO:equivalentTo"}
xref: UMLS:C1335942 {source="MEDGEN:235584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002211 {source="DOID:6025", source="NCIT:C27870"} ! B cell deficiency

[Term]
id: MONDO:0003740
name: AIDS phobia
def: "An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." [NCIT:C35614]
synonym: "AIDS phobia" EXACT [NCIT:C35614]
xref: DOID:603 {source="MONDO:equivalentTo"}
xref: MEDGEN:167692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35614 {source="DOID:603", source="MONDO:equivalentTo"}
xref: UMLS:C0853870 {source="MEDGEN:167692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000600 {source="DOID:603", source="EFO:1001873"} ! nosophobia
is_a: MONDO:0012000 {source="DOID:603/inferred", source="EFO:1001873/inferred", source="MONDO:Redundant", source="NCIT:C35614"} ! specific phobia

[Term]
id: MONDO:0003741
name: juvenile type testicular granulosa cell tumor
def: "A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "juvenile granulosa cell tumor" BROAD [DOID:6032]
synonym: "juvenile granulosa cell tumor (morphologic abnormality)" BROAD [DOID:6032]
synonym: "juvenile granulosa cell tumour" BROAD OMO:0003005 []
synonym: "juvenile granulosa cell tumour (morphologic abnormality)" BROAD OMO:0003005 []
synonym: "juvenile type granulosa cell neoplasm" BROAD [DOID:6032]
synonym: "juvenile type granulosa cell tumor" BROAD [DOID:6032, NCIT:C4207]
synonym: "juvenile type granulosa cell tumour" BROAD OMO:0003005 []
xref: DOID:6032 {source="MONDO:equivalentTo"}
xref: MEDGEN:308257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39947 {source="MONDO:equivalentTo", source="DOID:6032"}
xref: SCTID:189735004 {source="DOID:6032"}
xref: SCTID:77029009 {source="DOID:6032"}
xref: UMLS:C1515285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308257"}
is_a: MONDO:0003395 {source="DOID:6032", source="NCIT:C39947"} ! testicular granulosa cell tumor
intersection_of: MONDO:0003395 ! testicular granulosa cell tumor
intersection_of: has_characteristic HP:0003621 ! Juvenile onset

[Term]
id: MONDO:0003742
name: heart fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cardiac fibrosarcoma" EXACT [NCIT:C5361]
synonym: "cardiac fibrosarcoma" EXACT [DOID:6033]
synonym: "fibrosarcoma of heart" EXACT [NCIT:C5361]
synonym: "fibrosarcoma of the heart" EXACT [DOID:6033, NCIT:C5361]
synonym: "heart fibrosarcoma" EXACT [NCIT:C5361]
synonym: "heart fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6033 {source="MONDO:equivalentTo"}
xref: MEDGEN:232022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5361 {source="MONDO:equivalentTo", source="DOID:6033"}
xref: UMLS:C1332844 {source="MEDGEN:232022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003354 {source="DOID:6033", source="MONDO:Redundant", source="NCIT:C5361"} ! heart sarcoma
is_a: MONDO:0005164 {source="DOID:6033", source="MONDO:Redundant", source="NCIT:C5361/inferred"} ! fibrosarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0003743
name: heart malignant hemangiopericytoma
def: "A malignant hemangiopericytoma arising in the heart." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "heart hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "heart spindle cell tumor" EXACT [MONDO:patterns/location]
synonym: "heart spindle cell tumour" EXACT OMO:0003005 []
synonym: "malignant Cardiac hemangiopericytoma" EXACT [NCIT:C5365]
synonym: "malignant heart hemangiopericytoma" EXACT [NCIT:C5365]
synonym: "malignant hemangiopericytoma of heart" EXACT [DOID:6034, NCIT:C5365]
synonym: "malignant hemangiopericytoma of the heart" EXACT [NCIT:C5365]
xref: DOID:6034 {source="MONDO:equivalentTo"}
xref: MEDGEN:233144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5365 {source="MONDO:equivalentTo", source="DOID:6034"}
xref: UMLS:C1334567 {source="MEDGEN:233144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005094 {source="DOID:6034", source="MONDO:Redundant", source="NCIT:C5365/inferred"} ! hemangiopericytoma
intersection_of: MONDO:0005094 ! hemangiopericytoma
intersection_of: disease_has_location UBERON:0000948 ! heart
relationship: excluded_subClassOf MONDO:0003354 {source="DOID:6034", source="https://orcid.org/0000-0001-5208-3432"} ! heart sarcoma

[Term]
id: MONDO:0003744
name: spindle cell intraocular melanoma
def: "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spindle cell melanoma of the uvea" EXACT [NCIT:C7986]
synonym: "spindle cell melanoma of uvea" EXACT [NCIT:C7986]
synonym: "spindle cell uveal melanoma" EXACT [NCIT:C7986]
synonym: "uveal spindle cell melanoma" EXACT [DOID:6037, NCIT:C7986]
xref: DOID:6037 {source="MONDO:equivalentTo"}
xref: MEDGEN:76015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7986 {source="DOID:6037", source="MONDO:equivalentTo"}
xref: UMLS:C0279687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76015"}
is_a: MONDO:0006325 {source="DOID:6037", source="NCIT:C7986/inferred"} ! ocular melanoma
is_a: MONDO:0006427 {source="NCIT:C7986"} ! spindle cell melanoma
is_a: MONDO:0006486 {source="NCIT:C7986"} ! uveal melanoma
intersection_of: MONDO:0006486 ! uveal melanoma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell

[Term]
id: MONDO:0003745
name: choroid spindle cell melanoma
def: "A spindle cell melanoma that involves the optic choroid." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "optic choroid spindle cell melanoma" EXACT [MONDO:patterns/location]
synonym: "spindle cell melanoma of choroid" EXACT [NCIT:C6099]
synonym: "spindle cell melanoma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "spindle cell melanoma of the choroid" EXACT [DOID:6041, NCIT:C6099]
xref: DOID:6041 {source="MONDO:equivalentTo"}
xref: MEDGEN:272477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6099 {source="MONDO:equivalentTo", source="DOID:6041"}
xref: UMLS:C1333027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272477"}
is_a: MONDO:0003878 {source="DOID:6041", source="MONDO:Redundant", source="NCIT:C6099"} ! malignant choroid melanoma
is_a: MONDO:0006427 {source="DOID:6041", source="MONDO:Redundant", source="NCIT:C6099/inferred"} ! spindle cell melanoma
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C6099/inferred"} ! uveal melanoma
intersection_of: MONDO:0006427 ! spindle cell melanoma
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0003746
name: ciliary body spindle cell melanoma
def: "A spindle cell melanoma that involves the ciliary body." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ciliary body spindle cell melanoma" EXACT [MONDO:patterns/location]
synonym: "spindle cell melanoma of ciliary body" EXACT [NCIT:C6117]
synonym: "spindle cell melanoma of the ciliary body" EXACT [DOID:6043, NCIT:C6117]
xref: DOID:6043 {source="MONDO:equivalentTo"}
xref: MEDGEN:232367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6117 {source="MONDO:equivalentTo", source="DOID:6043"}
xref: UMLS:C1333052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232367"}
is_a: MONDO:0002969 {source="DOID:6043", source="MONDO:Redundant", source="NCIT:C6117/inferred"} ! ciliary body cancer
is_a: MONDO:0003912 {source="MONDO:Redundant", source="NCIT:C6117"} ! malignant ciliary body melanoma
is_a: MONDO:0004188 {source="DOID:6043", source="MONDO:Entailed", source="MONDO:Redundant"} ! iris spindle cell melanoma
intersection_of: MONDO:0006427 ! spindle cell melanoma
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0003747
name: telangiectatic glomangioma
def: "A glomus tumor characterized by huge vascular channel formations." [NCIT:C5345]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "telangiectatic glomangioma" EXACT [NCIT:C5345]
xref: DOID:6048 {source="MONDO:equivalentTo"}
xref: MEDGEN:236998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5345 {source="DOID:6048", source="MONDO:equivalentTo"}
xref: UMLS:C1336699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236998"}
is_a: MONDO:0002298 {source="DOID:6048", source="NCIT:C5345"} ! cutaneous glomangioma

[Term]
id: MONDO:0003748
name: flying phobia
def: "An overwhelming, irrational, and persistent fear of traveling in an aircraft." [NCIT:C35413]
subset: otar {source="MONDO:OTAR"}
xref: DOID:605 {source="MONDO:equivalentTo"}
xref: EFO:1001889 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35413 {source="MONDO:equivalentTo", source="DOID:605"}
xref: SCTID:192045005 {source="DOID:605"}
xref: SCTID:247854002 {source="DOID:605"}
xref: UMLS:C0344318 {source="MEDGEN:83369", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012000 {source="DOID:605", source="EFO:1001889", source="NCIT:C35413"} ! specific phobia

[Term]
id: MONDO:0003749
name: esophageal disorder
def: "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." [NCIT:C3027]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of esophagus" EXACT [MONDO:patterns/location_top]
synonym: "disease of oesophagus" EXACT OMO:0003005 []
synonym: "disease or disorder of esophagus" EXACT []
synonym: "disease or disorder of oesophagus" EXACT OMO:0003005 []
synonym: "disorder of esophagus" EXACT [MONDO:patterns/location_top]
synonym: "disorder of oesophagus" EXACT OMO:0003005 []
synonym: "esophageal disorder" EXACT [NCIT:C3027]
synonym: "esophageal ulcer" NARROW [DOID:6050, NCIT:C26950]
synonym: "esophagus disease" EXACT [MONDO:patterns/location]
synonym: "esophagus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "oesophagus disease" EXACT OMO:0003005 []
synonym: "oesophagus disease or disorder" EXACT OMO:0003005 []
xref: DOID:6050 {source="MONDO:equivalentTo"}
xref: EFO:0009544 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K20-K31 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K22.9 {source="DOID:6050"}
xref: ICD9:530 {source="DOID:6050"}
xref: ICD9:530.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:530.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:530.9 {source="DOID:6050"}
xref: MEDGEN:8693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004935 {source="MONDO:equivalentTo", source="DOID:6050"}
xref: NCIT:C3027 {source="MONDO:equivalentTo", source="DOID:6050"}
xref: SCTID:155671005 {source="DOID:6050"}
xref: SCTID:155680005 {source="DOID:6050"}
xref: SCTID:196626000 {source="DOID:6050"}
xref: SCTID:266497000 {source="DOID:6050"}
xref: SCTID:30811009 {source="MONDO:equivalentTo"}
xref: SCTID:37657006 {source="MONDO:equivalentTo", source="DOID:6050", source="MONDO:preferredExternal"}
xref: UMLS:C0014852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8693"}
is_a: MONDO:0004335 {source="DOID:6050", source="MESH:D004935", source="NCIT:C3027"} ! digestive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001043 ! esophagus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0003750
name: childhood central nervous system germ cell tumor
def: "A germ cell tumor of the central nervous system occurring in children." [NCIT:C6205]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system childhood germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "central nervous system childhood germ cell tumour" EXACT OMO:0003005 []
synonym: "central nervous system germ cell tumor" BROAD [NCIT:C6205]
synonym: "central nervous system germ cell tumour" BROAD OMO:0003005 []
synonym: "central nervous system paediatric germ cell cancer" EXACT OMO:0003005 []
synonym: "central nervous system pediatric germ cell cancer" EXACT [MONDO:patterns/location]
synonym: "childhood central nervous system germ cell neoplasm" EXACT [NCIT:C6205]
synonym: "childhood central nervous system germ cell tumor" EXACT [NCIT:C6205]
synonym: "childhood CNS germ cell neoplasm" EXACT [NCIT:C6205]
synonym: "childhood CNS germ cell tumor" EXACT [NCIT:C6205]
synonym: "childhood CNS germ cell tumour" EXACT OMO:0003005 []
synonym: "childhood germ cell neoplasm of central nervous system" EXACT [NCIT:C6205]
synonym: "childhood germ cell neoplasm of CNS" EXACT [NCIT:C6205]
synonym: "childhood germ cell neoplasm of the central nervous system" EXACT [NCIT:C6205]
synonym: "childhood germ cell neoplasm of the CNS" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumor of central nervous system" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumor of CNS" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumor of the central nervous system" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumor of the CNS" EXACT [NCIT:C6205]
synonym: "childhood germ cell tumour of central nervous system" EXACT OMO:0003005 []
synonym: "childhood germ cell tumour of CNS" EXACT OMO:0003005 []
synonym: "childhood germ cell tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "childhood germ cell tumour of the CNS" EXACT OMO:0003005 []
synonym: "paediatric central nervous system germ cell neoplasm" EXACT OMO:0003005 []
synonym: "paediatric central nervous system germ cell tumour" EXACT OMO:0003005 []
synonym: "paediatric CNS germ cell neoplasm" EXACT OMO:0003005 []
synonym: "paediatric CNS germ cell tumour" EXACT OMO:0003005 []
synonym: "paediatric germ cell neoplasm of central nervous system" EXACT OMO:0003005 []
synonym: "paediatric germ cell neoplasm of CNS" EXACT OMO:0003005 []
synonym: "paediatric germ cell neoplasm of the central nervous system" EXACT OMO:0003005 []
synonym: "paediatric germ cell neoplasm of the CNS" EXACT OMO:0003005 []
synonym: "paediatric germ cell tumour of central nervous system" EXACT OMO:0003005 []
synonym: "paediatric germ cell tumour of CNS" EXACT OMO:0003005 []
synonym: "paediatric germ cell tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "paediatric germ cell tumour of the CNS" EXACT OMO:0003005 []
synonym: "pediatric central nervous system germ cell neoplasm" EXACT [NCIT:C6205]
synonym: "pediatric central nervous system germ cell tumor" EXACT [NCIT:C6205]
synonym: "pediatric CNS germ cell neoplasm" EXACT [NCIT:C6205]
synonym: "pediatric CNS germ cell tumor" EXACT [NCIT:C6205]
synonym: "pediatric germ cell neoplasm of central nervous system" EXACT [NCIT:C6205]
synonym: "pediatric germ cell neoplasm of CNS" EXACT [DOID:6052, NCIT:C6205]
synonym: "pediatric germ cell neoplasm of the central nervous system" EXACT [NCIT:C6205]
synonym: "pediatric germ cell neoplasm of the CNS" EXACT [NCIT:C6205]
synonym: "pediatric germ cell tumor of central nervous system" EXACT [NCIT:C6205]
synonym: "pediatric germ cell tumor of CNS" EXACT [NCIT:C6205]
synonym: "pediatric germ cell tumor of the central nervous system" EXACT [NCIT:C6205]
synonym: "pediatric germ cell tumor of the CNS" EXACT [NCIT:C6205]
xref: DOID:6052 {source="MONDO:equivalentTo"}
xref: MEDGEN:124505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6205 {source="MONDO:equivalentTo", source="DOID:6052"}
xref: UMLS:C0278754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124505"}
is_a: MONDO:0003000 {source="DOID:6052", source="MONDO:Redundant", source="NCIT:C6205"} ! central nervous system germ cell tumor
is_a: MONDO:0003751 {source="DOID:6052", source="MONDO:Redundant", source="NCIT:C6205"} ! childhood germ cell tumor
intersection_of: MONDO:0003751 ! childhood germ cell tumor
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003751
name: childhood germ cell tumor
def: "A germ cell tumor that occurs during childhood." [NCIT:C7928]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood germ cell neoplasm" EXACT [NCIT:C7928]
synonym: "childhood germ cell tumor" EXACT [NCIT:C7928]
synonym: "germ cell tumor" BROAD [NCIT:C7928]
synonym: "germ cell tumour" BROAD OMO:0003005 []
synonym: "paediatric germ cell cancer" RELATED OMO:0003005 []
synonym: "paediatric germ cell neoplasm" EXACT OMO:0003005 []
synonym: "paediatric germ cell tumour" EXACT OMO:0003005 []
synonym: "pediatric germ cell cancer" RELATED [DOID:6053]
synonym: "pediatric germ cell neoplasm" EXACT [DOID:6053, NCIT:C7928]
synonym: "pediatric germ cell tumor" EXACT [DOID:6053, NCIT:C7928]
xref: DOID:6053 {source="MONDO:equivalentTo"}
xref: MEDGEN:75907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7928 {source="MONDO:equivalentTo", source="DOID:6053"}
xref: UMLS:C0279014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75907"}
is_a: MONDO:0005040 {source="DOID:6053", source="MONDO:Redundant", source="NCIT:C7928"} ! germ cell tumor
is_a: MONDO:0021079 {source="MONDO:Redundant", source="NCIT:C7928"} ! childhood neoplasm
intersection_of: MONDO:0005040 {source="NCIT:C7928"} ! germ cell tumor
intersection_of: has_characteristic HP:0011463 {source="NCIT:C7928"} ! Childhood onset

[Term]
id: MONDO:0003752
name: frontal sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6837]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "frontal sinus Schneiderian papilloma" EXACT [NCIT:C6837]
synonym: "Schneiderian papilloma of frontal sinus" RELATED [NCIT:C6837]
synonym: "Schneiderian papilloma of the frontal sinus" EXACT [DOID:6054, NCIT:C6837]
xref: DOID:6054 {source="MONDO:equivalentTo"}
xref: MEDGEN:234273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6837 {source="MONDO:equivalentTo", source="DOID:6054"}
xref: UMLS:C1333645 {source="MEDGEN:234273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001757 {source="DOID:6054", source="MONDO:Redundant", source="NCIT:C6837/inferred"} ! frontal sinus neoplasm
is_a: MONDO:0006353 {source="NCIT:C6837"} ! paranasal sinus Schneiderian papilloma
is_a: MONDO:0021483 {source="MONDO:Redundant", source="NCIT:C6837"} ! benign neoplasm of frontal sinus

[Term]
id: MONDO:0003753
name: nasal vestibule squamous papilloma
def: "A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule." [NCIT:P378]
synonym: "nasal vestibule papilloma" EXACT [MONDO:patterns/location, NCIT:C4369]
synonym: "nasal vestibule squamous papilloma" EXACT [MONDO:patterns/location, NCIT:C4369]
synonym: "papilloma of nasal vestibule" EXACT [NCIT:C4369]
synonym: "papilloma of the nasal vestibule" EXACT [NCIT:C4369]
synonym: "squamous papilloma of nasal vestibule" EXACT [NCIT:C4369]
synonym: "squamous papilloma of the nasal vestibule" EXACT [DOID:6059, NCIT:C4369]
xref: DOID:6059 {source="MONDO:equivalentTo"}
xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4369 {source="DOID:6059", source="MONDO:equivalentTo"}
xref: SCTID:232364006 {source="DOID:6059", source="MONDO:equivalentTo"}
xref: UMLS:C0339826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90945"}
is_a: MONDO:0000382 {source="DOID:6059", source="MONDO:Redundant", source="MONDO:indirect"} ! respiratory system benign neoplasm
is_a: MONDO:0001825 {source="MONDO:Redundant", source="NCIT:C4369"} ! squamous papilloma
is_a: MONDO:0002232 {source="MONDO:Redundant", source="NCIT:C4369/inferred"} ! nasal cavity disorder
is_a: MONDO:0002363 {source="DOID:6059", source="MONDO:Redundant", source="NCIT:C4369/inferred"} ! papilloma
is_a: MONDO:0004756 {source="MONDO:Redundant", source="NCIT:C4369/inferred"} ! nasal cavity neoplasm
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4369/inferred"} ! head and neck neoplasm
is_a: MONDO:0021475 {source="MONDO:Redundant", source="NCIT:C4369"} ! benign neoplasm of nasal cavity
intersection_of: MONDO:0001825 ! squamous papilloma
intersection_of: disease_has_location UBERON:0000402 ! nasal vestibule

[Term]
id: MONDO:0003754
name: Brown-Sequard syndrome
def: "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause." [https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome]
subset: otar {source="MONDO:OTAR"}
synonym: "Brown-Squard syndrome" EXACT [DOID:606]
synonym: "Hemicord syndrome" RELATED [GARD:0005964]
synonym: "Hemiparaplegic syndrome" RELATED [GARD:0005964]
synonym: "Hemispinal cord syndrome" RELATED [GARD:0005964]
xref: DOID:606 {source="MONDO:equivalentTo"}
xref: EFO:1001279 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G83.81 {source="DOID:606", source="MONDO:equivalentTo"}
xref: MEDGEN:69225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018437 {source="DOID:606", source="MONDO:equivalentTo"}
xref: NCIT:C84601 {source="DOID:606", source="MONDO:equivalentTo"}
xref: SCTID:27982003 {source="DOID:606", source="MONDO:equivalentTo"}
xref: UMLS:C0242644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:69225"}
is_a: MONDO:0002254 {source="NCIT:C84601"} ! syndromic disease
is_a: MONDO:0003757 {source="DOID:606", source="MESH:D018437"} ! paraplegia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome" xsd:anyURI {source="GARD:0005964"}

[Term]
id: MONDO:0003755
name: urinary tract non-invasive transitional cell neoplasm
synonym: "non-invasive transitional cell neoplasm of the urinary tract" EXACT [NCIT:C39854]
synonym: "non-invasive urothelial neoplasm" EXACT [NCIT:C39854]
xref: DOID:6065 {source="MONDO:equivalentTo"}
xref: MEDGEN:273592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39854 {source="MONDO:equivalentTo", source="DOID:6065"}
xref: UMLS:C1518361 {source="MEDGEN:273592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024337 {source="MONDO:Redundant", source="NCIT:C39854"} ! urothelial neoplasm
relationship: excluded_subClassOf MONDO:0003443 {source="DOID:6065", source="https://orcid.org/0000-0001-5208-3432"} ! papillary urothelial neoplasm

[Term]
id: MONDO:0003756
name: ovarian mucinous neoplasm
def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." [NCIT:C5242]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant ovarian mucinous neoplasm" NARROW [DOID:6067]
synonym: "mucinous neoplasm of ovary" EXACT [NCIT:C5242]
synonym: "mucinous neoplasm of the ovary" EXACT [NCIT:C5242]
synonym: "mucinous tumor of ovary" EXACT [DOID:6067, NCIT:C5242]
synonym: "mucinous tumor of the ovary" EXACT [NCIT:C5242]
synonym: "mucinous tumour of ovary" EXACT OMO:0003005 []
synonym: "mucinous tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian mucinous neoplasm" EXACT [NCIT:C5242]
synonym: "ovarian mucinous tumor" EXACT [DOID:6067, NCIT:C5242]
synonym: "ovarian mucinous tumour" EXACT OMO:0003005 []
xref: DOID:6067 {source="MONDO:equivalentTo"}
xref: MEDGEN:235419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40033 {source="DOID:6067"}
xref: NCIT:C5242 {source="MONDO:equivalentTo", source="DOID:6067"}
xref: SCTID:189683008 {source="DOID:6067"}
xref: UMLS:C1335168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235419"}
is_a: MONDO:0002229 {source="DOID:6067", source="NCIT:C5242"} ! ovarian epithelial tumor

[Term]
id: MONDO:0003757
name: paraplegia
def: "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "paraplegia, lower" EXACT [DOID:607]
synonym: "severe or complete loss of motor function in the lower extremities and lower portions of the trunk" RELATED [GARD:0007327]
xref: DOID:607 {source="MONDO:equivalentTo"}
xref: EFO:0009679 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G82.2 {source="DOID:607"}
xref: ICD10CM:G82.20 {source="DOID:607"}
xref: ICD9:344.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:607"}
xref: MEDGEN:45323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010264 {source="MONDO:equivalentTo", source="DOID:607"}
xref: NCIT:C50687 {source="MONDO:equivalentTo", source="DOID:607"}
xref: SCTID:155031004 {source="DOID:607"}
xref: SCTID:60389000 {source="MONDO:equivalentTo", source="DOID:607"}
xref: UMLS:C0030486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45323"}
is_a: MONDO:0006496 {source="MESH:D010264"} ! palsy
relationship: excluded_subClassOf MONDO:0002602 {source="DOID:607", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7327/paraplegia" xsd:anyURI {source="GARD:0007327"}

[Term]
id: MONDO:0003758
name: childhood testicular germ cell tumor
def: "A germ cell tumor that arises from the testis during childhood." [NCIT:C6552]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood testicular germ cell neoplasm" EXACT [NCIT:C6552]
synonym: "childhood testicular germ cell tumor" EXACT [NCIT:C6552]
synonym: "paediatric testicular germ cell neoplasm" EXACT OMO:0003005 []
synonym: "paediatric testicular germ cell tumour" EXACT OMO:0003005 []
synonym: "pediatric testicular germ cell neoplasm" EXACT [DOID:6082, NCIT:C6552]
synonym: "pediatric testicular germ cell tumor" EXACT [MONDO:patterns/childhood, NCIT:C6552]
synonym: "testicular germ cell tumor" BROAD [NCIT:C6552]
synonym: "testicular germ cell tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "testicular germ cell tumour" BROAD OMO:0003005 []
synonym: "testicular germ cell tumour of childhood" EXACT OMO:0003005 []
xref: DOID:6082 {source="MONDO:equivalentTo"}
xref: MEDGEN:208758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6552 {source="DOID:6082", source="MONDO:equivalentTo"}
xref: UMLS:C0796663 {source="MEDGEN:208758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010108 {source="DOID:6082", source="MONDO:Redundant", source="NCIT:C6552"} ! testicular germ cell tumor
intersection_of: MONDO:0010108 ! testicular germ cell tumor
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003759
name: childhood ovarian yolk sac tumor
def: "A yolk sac tumor that arises from the ovary and occurs in children." [NCIT:C6551]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood ovarian endodermal sinus neoplasm" EXACT [DOID:6083, NCIT:C6551]
synonym: "childhood ovarian endodermal sinus tumor" RELATED [NCIT:C6551]
synonym: "childhood ovarian endodermal sinus tumour" RELATED OMO:0003005 []
synonym: "childhood ovarian yolk Sac neoplasm" RELATED [NCIT:C6551]
synonym: "childhood ovarian yolk sac tumor" EXACT [NCIT:C6551]
synonym: "ovary childhood endodermal sinus tumor" EXACT [MONDO:patterns/location]
synonym: "ovary childhood endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "paediatric ovarian endodermal sinus neoplasm" RELATED OMO:0003005 []
synonym: "paediatric ovarian endodermal sinus tumour" RELATED OMO:0003005 []
synonym: "paediatric ovarian yolk Sac neoplasm" RELATED OMO:0003005 []
synonym: "paediatric ovarian yolk Sac tumour" EXACT OMO:0003005 []
synonym: "pediatric ovarian endodermal sinus neoplasm" RELATED [NCIT:C6551]
synonym: "pediatric ovarian endodermal sinus tumor" RELATED [NCIT:C6551]
synonym: "pediatric ovarian yolk Sac neoplasm" RELATED [NCIT:C6551]
synonym: "pediatric ovarian yolk Sac tumor" EXACT [DOID:6083, NCIT:C6551]
xref: DOID:6083 {source="MONDO:equivalentTo"}
xref: MEDGEN:234136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200069 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6551 {source="NCIT:C6551", source="MONDO:equivalentTo", source="DOID:6083"}
xref: UMLS:C1332993 {source="MONDO:equivalentTo", source="MEDGEN:234136", source="MONDO:MEDGEN"}
is_a: MONDO:0003400 {source="MONDO:Redundant", source="NCIT:C6551"} ! childhood endodermal sinus tumor
is_a: MONDO:0006344 {source="DOID:6083", source="MONDO:Redundant", source="NCIT:C6551"} ! ovarian yolk sac tumor
intersection_of: MONDO:0003400 ! childhood endodermal sinus tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003760
name: pediatric ovarian germ cell tumor
def: "A germ cell tumor that arises from the ovary and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood ovarian germ cell neoplasm" EXACT [NCIT:C8588]
synonym: "childhood ovarian germ cell tumor" EXACT [NCIT:C8588]
synonym: "childhood ovarian germ cell tumour" EXACT OMO:0003005 []
synonym: "ovarian germ cell tumor" BROAD [NCIT:C8588]
synonym: "ovarian germ cell tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "ovarian germ cell tumour" BROAD OMO:0003005 []
synonym: "ovarian germ cell tumour of childhood" EXACT OMO:0003005 []
synonym: "paediatric ovarian germ cell neoplasm" EXACT OMO:0003005 []
synonym: "pediatric ovarian germ cell neoplasm" EXACT [DOID:6084, NCIT:C8588]
synonym: "pediatric ovarian germ cell tumor" EXACT [MONDO:patterns/childhood, NCIT:C8588]
xref: DOID:6084 {source="MONDO:equivalentTo"}
xref: MEDGEN:162990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8588 {source="MONDO:equivalentTo", source="DOID:6084"}
xref: UMLS:C0796664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162990"}
is_a: MONDO:0011366 {source="DOID:6084", source="MONDO:Redundant", source="NCIT:C8588"} ! ovarian germ cell tumor
intersection_of: MONDO:0011366 ! ovarian germ cell tumor
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003761
name: leptomeningeal melanoma
def: "A melanoma that arises from leptomeningeal melanocytes." [NCIT:C5317]
comment: Editor note: TODO check meninx vs leptomeninges
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leptomeningeal melanoma" EXACT [NCIT:C5317]
synonym: "leptomeninx melanoma" EXACT []
synonym: "leptomeninx melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant melanoma of meninges" EXACT []
synonym: "melanoma (disease) of leptomeninx" EXACT []
synonym: "melanoma of leptomeninges" RELATED [NCIT:C5317]
synonym: "melanoma of the leptomeninges" EXACT [DOID:6085, NCIT:C5317]
synonym: "meningeal melanoma" EXACT [NCIT:C5317]
xref: DOID:6085 {source="MONDO:equivalentTo"}
xref: MEDGEN:272793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5317 {source="MONDO:equivalentTo", source="DOID:6085", source="NCIT:C5317"}
xref: SCTID:277530005 {source="MONDO:equivalentTo"}
xref: UMLS:C1334386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272793"}
is_a: MONDO:0003762 {source="DOID:6085", source="MONDO:Redundant", source="NCIT:C5317"} ! malignant leptomeningeal tumor
is_a: MONDO:0005105 {source="NCIT:C5317/inferred"} ! melanoma
is_a: MONDO:0016747 {source="MONDO:Redundant", source="NCIT:C5317"} ! primary melanoma of the central nervous system
is_a: MONDO:0021322 {source="NCIT:C5317/inferred"} ! malignant tumor of meninges
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0000391 ! leptomeninx

[Term]
id: MONDO:0003762
name: malignant leptomeningeal tumor
def: "A primary or metastatic malignant tumor involving the leptomeninges." [NCIT:C8506]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cancer of leptomeninx" EXACT [MONDO:patterns/cancer]
synonym: "leptomeningeal cancer" RELATED [NCIT:C8506]
synonym: "leptomeninx cancer" EXACT [MONDO:patterns/location]
synonym: "malignant leptomeningeal neoplasm" EXACT [NCIT:C8506]
synonym: "malignant leptomeningeal tumor" EXACT [NCIT:C8506]
synonym: "malignant leptomeninx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of leptomeninges" RELATED [NCIT:C8506]
synonym: "malignant neoplasm of leptomeninx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the leptomeninges" RELATED [NCIT:C8506]
synonym: "malignant tumor of leptomeninges" EXACT [DOID:6086, NCIT:C8506]
synonym: "malignant tumor of the leptomeninges" RELATED [NCIT:C8506]
synonym: "malignant tumour of leptomeninges" EXACT OMO:0003005 []
synonym: "malignant tumour of the leptomeninges" RELATED OMO:0003005 []
xref: DOID:6086 {source="MONDO:equivalentTo"}
xref: MEDGEN:233153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8506 {source="MONDO:equivalentTo", source="DOID:6086", source="NCIT:C8506"}
xref: UMLS:C1334596 {source="MEDGEN:233153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002714 {source="DOID:6086/inferred", source="MONDO:Redundant", source="NCIT:C8506/inferred"} ! central nervous system cancer
is_a: MONDO:0016642 {source="DOID:6086"} ! meningioma
is_a: MONDO:0021322 {source="MONDO:Redundant", source="NCIT:C8506"} ! malignant tumor of meninges
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000391 ! leptomeninx

[Term]
id: MONDO:0003763
name: acute stress disorder
def: "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." [NCIT:C92621]
subset: otar {source="MONDO:OTAR"}
synonym: "acute stress reaction" EXACT [MONDO:0005457]
synonym: "traumatic stress disorder" EXACT [DOID:6088]
xref: DOID:6088 {source="MONDO:equivalentTo"}
xref: EFO:0005223 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F43.0 {source="MONDO:equivalentTo"}
xref: ICD9:308.3 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:6088"}
xref: ICD9:308.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:116022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000068099 {source="MONDO:equivalentTo"}
xref: NCIT:C92621 {source="EFO:0005223", source="MONDO:equivalentTo"}
xref: SCTID:192040000 {source="DOID:6088"}
xref: SCTID:192043003 {source="DOID:6088"}
xref: SCTID:67195008 {source="MONDO:equivalentTo"}
xref: UMLS:C0236816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116022"}
xref: Wikipedia:Acute_stress_reaction {source="EFO:0005223"}
is_a: MONDO:0002025 {source="MESH:D000068099", source="NCIT:C92621/inferred"} ! psychiatric disorder
is_a: MONDO:0005084 {source="EFO:0005223", source="EFO:0005223/inferred", source="ICD10CM:F43.0/inferred"} ! mental disorder
is_a: MONDO:0005618 {source="DOID:6088", source="NCIT:C92621"} ! anxiety disorder
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0003764
name: pediatric leptomeningeal melanoma
def: "A melanoma that arises from leptomeningeal melanocytes and occurs in childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "childhood leptomeningeal melanoma" EXACT [NCIT:C5318]
synonym: "childhood meningeal melanoma" EXACT [NCIT:C5318]
synonym: "paediatric meningeal melanoma" EXACT OMO:0003005 []
synonym: "pediatric meningeal melanoma" EXACT [NCIT:C5318]
xref: DOID:6089 {source="MONDO:equivalentTo"}
xref: MEDGEN:232061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5318 {source="MONDO:equivalentTo", source="DOID:6089"}
xref: UMLS:C1332976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232061"}
is_a: MONDO:0003761 {source="DOID:6089", source="NCIT:C5318"} ! leptomeningeal melanoma
intersection_of: MONDO:0003761 ! leptomeningeal melanoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003765
name: adult leptomeningeal melanoma
def: "A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood." [NCIT:C5319]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adult leptomeningeal melanoma" EXACT [NCIT:C5319]
synonym: "adult meningeal melanoma" EXACT [NCIT:C5319]
synonym: "melanoma of adult leptomeninges" EXACT [DOID:6090, NCIT:C5319]
synonym: "melanoma of the adult leptomeninges" RELATED [NCIT:C5319]
xref: DOID:6090 {source="MONDO:equivalentTo"}
xref: MEDGEN:231042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5319 {source="DOID:6090", source="MONDO:equivalentTo", source="NCIT:C5319"}
xref: UMLS:C1332204 {source="MEDGEN:231042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003761 {source="DOID:6090", source="NCIT:C5319"} ! leptomeningeal melanoma

[Term]
id: MONDO:0003766
name: thalamic cancer
def: "A cancer involving a dorsal plus ventral thalamus." [MONDO:patterns/cancer]
synonym: "cancer of dorsal plus ventral thalamus" EXACT [MONDO:patterns/cancer]
synonym: "dorsal plus ventral thalamus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant dorsal plus ventral thalamus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of dorsal plus ventral thalamus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of thalamus" EXACT [DOID:6098, NCIT:C4576]
synonym: "malignant neoplasm of the thalamus" EXACT [NCIT:C4576]
synonym: "malignant thalamic neoplasm" EXACT [NCIT:C4576]
synonym: "malignant thalamic neoplasms" EXACT [NCIT:C4576]
synonym: "malignant thalamic tumor" EXACT [NCIT:C4576]
synonym: "malignant thalamic tumors" EXACT [NCIT:C4576]
synonym: "malignant thalamic tumour" EXACT OMO:0003005 []
synonym: "malignant thalamic tumours" EXACT OMO:0003005 []
synonym: "malignant thalamus neoplasm" EXACT [NCIT:C4576]
synonym: "malignant thalamus neoplasms" EXACT [NCIT:C4576]
synonym: "malignant thalamus tumor" EXACT [NCIT:C4576]
synonym: "malignant thalamus tumors" EXACT [NCIT:C4576]
synonym: "malignant thalamus tumour" EXACT OMO:0003005 []
synonym: "malignant thalamus tumours" EXACT OMO:0003005 []
synonym: "malignant tumor of thalamus" EXACT [DOID:6098, NCIT:C4576]
synonym: "malignant tumor of the thalamus" EXACT [NCIT:C4576]
synonym: "malignant tumour of thalamus" EXACT OMO:0003005 []
synonym: "malignant tumour of the thalamus" EXACT OMO:0003005 []
synonym: "thalamic neoplasm" RELATED [DOID:6098]
synonym: "tumor of thalamus" EXACT [DOID:6098, NCIT:C6221]
synonym: "tumour of thalamus" EXACT OMO:0003005 []
xref: DOID:6098 {source="MONDO:equivalentTo"}
xref: MEDGEN:83429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4576 {source="MONDO:equivalentTo", source="DOID:6098"}
xref: NCIT:C6221 {source="DOID:6098"}
xref: SCTID:188287005 {source="MONDO:equivalentTo", source="DOID:6098"}
xref: UMLS:C0346902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83429"}
is_a: MONDO:0002786 {source="DOID:6098", source="MONDO:Redundant", source="NCIT:C4576"} ! diencephalic cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001897 ! dorsal plus ventral thalamus

[Term]
id: MONDO:0003767
name: mitral valve disorder
def: "A disease involving the mitral valve." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic rheumatic mitral valve" EXACT [DOID:61]
synonym: "disease of mitral valve" EXACT [DOID:61, ICD9CM:394, MONDO:patterns/location_top]
synonym: "disease or disorder of mitral valve" EXACT []
synonym: "disorder of mitral valve" EXACT [MONDO:patterns/location_top]
synonym: "mitral RH valve dis." EXACT [DOID:61]
synonym: "mitral valve disease" EXACT [MONDO:patterns/location]
synonym: "mitral valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "mitral valve disorder" EXACT [NCIT:C78446]
synonym: "rheumatic disease of mitral valve" NARROW [DOID:61]
synonym: "rheumatic mitral insufficiency" NARROW [DOID:61, ICD9CM:394.1]
synonym: "rheumatic mitral valve changes" NARROW [DOID:61]
synonym: "rheumatic mitral valve incompetence" NARROW [DOID:61]
synonym: "rheumatic mitral valve regurgitation" NARROW [DOID:61]
xref: DOID:61 {source="MONDO:equivalentTo"}
xref: EFO:0009557 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I05 {source="DOID:61"}
xref: ICD10CM:I05.1 {source="DOID:61"}
xref: ICD10CM:I05.9 {source="DOID:61"}
xref: ICD9:394 {source="DOID:61"}
xref: ICD9:394.1 {source="DOID:61"}
xref: ICD9:394.9
xref: ICD9:424.0 {source="DOID:61"}
xref: MEDGEN:7669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78446 {source="MONDO:equivalentTo", source="DOID:61"}
xref: SCTID:11851006 {source="MONDO:equivalentTo", source="DOID:61"}
xref: SCTID:155276006 {source="DOID:61"}
xref: SCTID:155278007 {source="DOID:61"}
xref: SCTID:155279004 {source="DOID:61"}
xref: SCTID:194724009 {source="DOID:61"}
xref: SCTID:194729004 {source="DOID:61"}
xref: SCTID:194982000 {source="DOID:61"}
xref: SCTID:250998008 {source="DOID:61"}
xref: SCTID:266278002 {source="DOID:61"}
xref: SCTID:266279005 {source="DOID:61"}
xref: SCTID:31085000 {source="DOID:61"}
xref: SCTID:83898004 {source="DOID:61"}
xref: UMLS:C0026265 {source="MEDGEN:7669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002869 {source="DOID:61", source="MONDO:Redundant", source="NCIT:C78446"} ! heart valve disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002135 ! mitral valve

[Term]
id: MONDO:0003768
name: signet ring cell variant cervical mucinous adenocarcinoma
def: "A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cervical mucinous adenocarcinoma, signet Ring cell type" EXACT [NCIT:C40205]
synonym: "cervical mucinous adenocarcinoma, signet Ring cell variant" EXACT [NCIT:C40205]
synonym: "signet ring mucinous carcinoma" RELATED [ONCOTREE:SCEMU]
xref: DOID:6101 {source="MONDO:equivalentTo"}
xref: MEDGEN:273126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40205 {source="MONDO:equivalentTo", source="DOID:6101"}
xref: ONCOTREE:SCEMU {source="MONDO:equivalentTo"}
xref: UMLS:C1516424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273126"}
is_a: MONDO:0002742 {source="DOID:6101", source="NCIT:C40205"} ! cervical mucinous adenocarcinoma
is_a: MONDO:0005092 {source="NCIT:C40205"} ! signet ring cell carcinoma

[Term]
id: MONDO:0003769
name: herpetic gastritis
def: "Gastritis resulting from herpes virus." [NCIT:P378]
synonym: "Herpesviridae caused viral gastritis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Herpesviridae viral gastritis" EXACT []
xref: DOID:6102 {source="MONDO:equivalentTo"}
xref: MEDGEN:272714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27341 {source="DOID:6102", source="MONDO:equivalentTo"}
xref: UMLS:C1333996 {source="MEDGEN:272714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002270 {source="DOID:6102", source="MONDO:Redundant", source="NCIT:C27341"} ! viral gastritis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach
intersection_of: MONDO:0100332 NCBITaxon:10292 ! disease has primary infectious agent Herpesviridae

[Term]
id: MONDO:0003770
name: thoracic spinal canal and spinal cord meningioma
def: "A meningioma that arises from the meninges of the thoracic region of the spinal cord." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma of the thoracic spinal canal and spinal cord" EXACT [DOID:6103, NCIT:C5297]
synonym: "meningioma of thoracic spinal canal and spinal cord" EXACT [NCIT:C5297]
synonym: "thoracic intraspinal meningioma" EXACT [NCIT:C5297]
xref: DOID:6103 {source="MONDO:equivalentTo"}
xref: MEDGEN:234424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5297 {source="DOID:6103", source="MONDO:equivalentTo"}
xref: UMLS:C1336738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234424"}
is_a: MONDO:0001279 {source="DOID:6103", source="NCIT:C5297"} ! intraspinal meningioma

[Term]
id: MONDO:0003771
name: jugular foramen meningioma
def: "A meningioma that affects the jugular foramen." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "jugular foramen meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of jugular foramen" EXACT []
synonym: "meningioma of jugular Foramen" EXACT [NCIT:C5293]
synonym: "meningioma of the jugular Foramen" EXACT [DOID:6110, NCIT:C5293]
xref: DOID:6110 {source="MONDO:equivalentTo"}
xref: MEDGEN:233586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5293 {source="MONDO:equivalentTo", source="DOID:6110"}
xref: UMLS:C1334298 {source="MONDO:equivalentTo", source="MEDGEN:233586", source="MONDO:MEDGEN"}
is_a: MONDO:0016642 {source="DOID:6110", source="MONDO:Redundant", source="NCIT:C5293/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0005456 ! jugular foramen

[Term]
id: MONDO:0003772
name: cerebral meningioma
def: "A meningioma that affects the cerebral hemispheres." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cerebral hemispheric meningioma" EXACT [NCIT:C4807]
synonym: "meningioma (disease) of telencephalon" EXACT []
synonym: "meningioma of cerebral hemispheres" EXACT [NCIT:C4807]
synonym: "meningioma of cerebrum" EXACT [DOID:6112, NCIT:C4807]
synonym: "meningioma of the cerebral hemispheres" EXACT [NCIT:C4807]
synonym: "meningioma of the cerebrum" EXACT [NCIT:C4807]
synonym: "telencephalon meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6112 {source="MONDO:equivalentTo"}
xref: MEDGEN:154239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4807 {source="MONDO:equivalentTo", source="DOID:6112"}
xref: SCTID:189164002 {source="MONDO:equivalentTo", source="DOID:6112"}
xref: UMLS:C0542564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154239"}
is_a: MONDO:0002731 {source="DOID:6112", source="MONDO:Entailed"} ! cerebral hemisphere cancer
is_a: MONDO:0850302 {source="DOID:6112", source="MONDO:Entailed", source="MONDO:Redundant"} ! intracranial meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0001893 ! telencephalon

[Term]
id: MONDO:0003773
name: intracerebral cystic meningioma
def: "A cystic meningioma that grows within the cerebral hemispheres." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:6113 {source="MONDO:equivalentTo"}
xref: MEDGEN:272767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5269 {source="DOID:6113", source="MONDO:equivalentTo"}
xref: UMLS:C1334236 {source="MEDGEN:272767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003772 {source="DOID:6113", source="NCIT:C5269"} ! cerebral meningioma

[Term]
id: MONDO:0003774
name: cerebral convexity meningioma
def: "A meningioma that affects the cerebral sulcus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cerebral hemispheric convexity meningioma" EXACT [DOID:6114, NCIT:C4959]
xref: DOID:6114 {source="MONDO:equivalentTo"}
xref: MEDGEN:155844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:6114"}
xref: NCIT:C4959 {source="DOID:6114", source="MONDO:equivalentTo"}
xref: UMLS:C0751303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155844"}
is_a: MONDO:0003772 {source="DOID:6114", source="NCIT:C4959"} ! cerebral meningioma

[Term]
id: MONDO:0003775
name: lateral ventricle meningioma
def: "A meningioma that affects the lateral ventricle of the brain." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of telencephalic ventricle" EXACT []
synonym: "meningioma of lateral ventricle" EXACT [NCIT:C5302]
synonym: "meningioma of the lateral ventricle" EXACT [DOID:6115, NCIT:C5302]
synonym: "telencephalic ventricle meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6115 {source="MONDO:equivalentTo"}
xref: MEDGEN:232693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5302 {source="DOID:6115", source="MONDO:equivalentTo"}
xref: UMLS:C1334380 {source="MEDGEN:232693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002772 {source="DOID:6115", source="MONDO:Redundant", source="NCIT:C5302"} ! intraventricular meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0002285 ! telencephalic ventricle

[Term]
id: MONDO:0003776
name: renal pelvis inverted papilloma
def: "A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue." [NCIT:C6187]
synonym: "inverted papilloma of kidney pelvis" EXACT [NCIT:C6187]
synonym: "inverted papilloma of renal pelvis" EXACT [NCIT:C6187]
synonym: "inverted papilloma of the kidney pelvis" EXACT [DOID:6118, NCIT:C6187]
synonym: "inverted papilloma of the renal pelvis" EXACT [NCIT:C6187]
synonym: "kidney pelvis inverted papilloma" EXACT [NCIT:C6187]
synonym: "renal pelvis inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6187]
xref: DOID:6118 {source="MONDO:equivalentTo"}
xref: MEDGEN:277591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6187 {source="DOID:6118", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335751 {source="MEDGEN:277591", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003777 {source="DOID:6118", source="MONDO:Redundant", source="NCIT:C6187"} ! renal pelvis urothelial papilloma
is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C6187"} ! inverted urothelial papilloma
intersection_of: MONDO:0002537 ! inverted papilloma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0003777
name: renal pelvis urothelial papilloma
def: "A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C4528]
synonym: "renal pelvis urothelial papilloma" EXACT [MONDO:patterns/location, NCIT:C4528]
xref: DOID:6119 {source="MONDO:equivalentTo"}
xref: MEDGEN:271479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4528 {source="MONDO:equivalentTo", source="DOID:6119", source="MONDO:exact-label-match"}
xref: UMLS:C1514844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271479"}
is_a: MONDO:0003717 {source="DOID:6119", source="NCIT:C4528"} ! renal pelvis papillary tumor
is_a: MONDO:0004041 {source="MONDO:Redundant", source="NCIT:C4528"} ! urothelial papilloma
is_a: MONDO:0021467 {source="MONDO:Redundant", source="NCIT:C4528"} ! benign neoplasm of renal pelvis
intersection_of: MONDO:0004041 ! urothelial papilloma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0003778
name: inborn error of immunity
def: "A disorder in which the immune system is unable to mount an adequate immune response." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:19813", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:101997"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antibody deficiency syndrome" RELATED [MESH:D007153]
synonym: "antibody deficiency syndromes" RELATED [MESH:D007153]
synonym: "deficiency syndrome, antibody" RELATED [MESH:D007153]
synonym: "deficiency syndrome, immunologic" RELATED [MESH:D007153]
synonym: "deficiency syndrome, immunological" RELATED [MESH:D007153]
synonym: "deficiency syndromes, antibody" RELATED [MESH:D007153]
synonym: "deficiency syndromes, immunologic" RELATED [MESH:D007153]
synonym: "deficiency syndromes, immunological" RELATED [MESH:D007153]
synonym: "hypoimmunity" EXACT [DOID:612]
synonym: "IEI" EXACT ABBREVIATION [https://github.com/monarch-initiative/mondo/issues/4115]
synonym: "immune deficiency disorder" RELATED [DOID:612]
synonym: "immunodeficiency syndrome" RELATED [DOID:612, NCIT:C3131]
synonym: "immunologic deficiency syndrome" RELATED [MESH:D007153]
synonym: "immunological deficiency syndrome" RELATED [MESH:D007153]
synonym: "immunological deficiency syndromes" RELATED [MESH:D007153]
synonym: "inborn errors of immunity" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "primary immunodeficiency" RELATED [Orphanet:101997]
synonym: "primary immunodeficiency disease" EXACT [https://github.com/monarch-initiative/mondo/issues/4115]
synonym: "syndrome, antibody deficiency" RELATED [MESH:D007153]
synonym: "syndrome, immunologic deficiency" RELATED [MESH:D007153]
synonym: "syndrome, immunological deficiency" RELATED [MESH:D007153]
synonym: "syndromes, antibody deficiency" RELATED [MESH:D007153]
synonym: "syndromes, immunologic deficiency" RELATED [MESH:D007153]
synonym: "syndromes, immunological deficiency" RELATED [MESH:D007153]
xref: DOID:612 {source="MONDO:equivalentTo"}
xref: GARD:19813 {source="MONDO:GARD"}
xref: ICD10CM:D84.9 {source="DOID:612"}
xref: ICD9:279.3 {source="DOID:612", source="MONDO:directSiblingOf"}
xref: MEDGEN:585013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007153 {source="DOID:612", source="MONDO:equivalentTo"}
xref: NANDO:1200320 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100204 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3131 {source="DOID:612", source="MONDO:directSiblingOf"}
xref: NCIT:C39725 {source="DOID:612", source="MONDO:finding", source="MONDO:otherHierarchy"}
xref: Orphanet:101997 {source="MONDO:equivalentTo"}
xref: SCTID:191005003 {source="DOID:612"}
xref: SCTID:234532001 {source="DOID:612", source="MONDO:directSiblingOf"}
xref: SCTID:58606001 {source="MONDO:equivalentTo"}
xref: SCTID:64431000 {source="DOID:612"}
xref: UMLS:C0398686 {source="MEDGEN:585013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009453 {source="https://github.com/monarch-initiative/mondo/issues/1143"} ! immune deficiency disease
relationship: excluded_subClassOf MONDO:0005046 {source="DOID:612", source="MESH:D007153", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder

[Term]
id: MONDO:0003779
name: obsolete gliomatosis cerebri
is_obsolete: true
replaced_by: MONDO:0016683

[Term]
id: MONDO:0003780
name: T-cell immunodeficiency
def: "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." [NCIT:C27145]
subset: otar {source="MONDO:OTAR"}
synonym: "T lymphocyte deficiency" RELATED [DOID:613]
synonym: "T-cell immunodeficiency" EXACT [DOID:613, NCIT:C27145]
synonym: "T-lymphocyte deficiency" RELATED EXCLUDE [DOID:613]
synonym: "T-lymphocyte deficiency (finding)" EXACT [DOID:613]
synonym: "T-lymphocyte immunodeficiency" EXACT [DOID:613]
xref: DOID:613 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:226894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27145 {source="DOID:613", source="NCIT:C27145", source="MONDO:equivalentTo"}
xref: SCTID:402792003 {source="DOID:613", source="MONDO:equivalentTo"}
xref: UMLS:C1274233 {source="MEDGEN:226894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="NCIT:C27145"} ! immunodeficiency disease

[Term]
id: MONDO:0003781
name: bronchitis
def: "An acute or chronic inflammatory process affecting the bronchi." [NCIT:C2911]
subset: otar {source="MONDO:OTAR"}
synonym: "acute bronchitis" NARROW [DOID:6132, NCIT:C26932]
synonym: "acute bronchitis and bronchiolitis" RELATED [DOID:6132]
synonym: "bronchial infection" EXACT [NCIT:C2911]
synonym: "bronchus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "chest cold" RELATED [DOID:6132]
synonym: "chest infection" RELATED [DOID:6132]
synonym: "chronic bronchitis" NARROW [DOID:6132]
synonym: "CI - chest infection" EXACT [DOID:6132]
synonym: "inflammation of bronchus" EXACT []
synonym: "recurrent wheezy bronchitis" RELATED [DOID:6132]
xref: CSP:2596-1500 {source="DOID:6132"}
xref: DOID:6132 {source="MONDO:equivalentTo"}
xref: EFO:0009661 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J20 {source="DOID:6132"}
xref: ICD10CM:J20.9 {source="DOID:6132"}
xref: ICD10CM:J40 {source="DOID:6132"}
xref: ICD10CM:J42 {source="DOID:6132"}
xref: ICD9:466.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6132"}
xref: ICD9:490 {source="DOID:6132"}
xref: ICD9:491 {source="DOID:6132"}
xref: ICD9:491.9 {source="DOID:6132"}
xref: MEDGEN:2736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001991 {source="MONDO:equivalentTo", source="DOID:6132"}
xref: MESH:D029481 {source="DOID:6132"}
xref: NCIT:C26722 {source="DOID:6132"}
xref: NCIT:C26932 {source="DOID:6132"}
xref: NCIT:C2911 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6132"}
xref: SCTID:10509002 {source="DOID:6132"}
xref: SCTID:155512004 {source="DOID:6132"}
xref: SCTID:155515002 {source="DOID:6132"}
xref: SCTID:155566007 {source="DOID:6132"}
xref: SCTID:155572007 {source="DOID:6132"}
xref: SCTID:155616009 {source="DOID:6132"}
xref: SCTID:195713004 {source="DOID:6132"}
xref: SCTID:195733000 {source="DOID:6132"}
xref: SCTID:195936003 {source="DOID:6132"}
xref: SCTID:195940007 {source="DOID:6132"}
xref: SCTID:195956002 {source="DOID:6132"}
xref: SCTID:266354009 {source="DOID:6132"}
xref: SCTID:266380005 {source="DOID:6132"}
xref: SCTID:266395007 {source="DOID:6132"}
xref: SCTID:32398004 {source="MONDO:equivalentTo", source="DOID:6132"}
xref: SCTID:35301006 {source="DOID:6132"}
xref: SCTID:63480004 {source="DOID:6132"}
xref: UMLS:C0006277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2736"}
is_a: MONDO:0001358 {source="DOID:6132", source="MESH:D001991", source="MONDO:Redundant"} ! bronchial disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002185 ! bronchus

[Term]
id: MONDO:0003782
name: uterine corpus epithelioid leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." [NCIT:C40174]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body of uterus epithelioid leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "epithelioid leiomyosarcoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus epithelioid leiomyosarcoma" EXACT [NCIT:C40174]
synonym: "uterine epithelioid leiomyosarcoma" RELATED [ONCOTREE:UELMS]
xref: DOID:6139 {source="MONDO:equivalentTo"}
xref: MEDGEN:274363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40174 {source="DOID:6139", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:UELMS {source="MONDO:equivalentTo"}
xref: UMLS:C1519851 {source="MONDO:equivalentTo", source="MEDGEN:274363", source="MONDO:MEDGEN"}
is_a: MONDO:0003356 {source="DOID:6139", source="MONDO:Redundant", source="NCIT:C40174"} ! epithelioid leiomyosarcoma
is_a: MONDO:0016262 {source="DOID:6139", source="MONDO:Redundant", source="NCIT:C40174"} ! leiomyosarcoma of the corpus uteri
intersection_of: MONDO:0003356 ! epithelioid leiomyosarcoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0003783
name: lymphopenia
def: "Reduction in the number of lymphocytes." [MESH:D008231]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphocytopenia" EXACT [DOID:614]
synonym: "lymphopenia" EXACT [MONDO:ambiguous]
synonym: "lymphopenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:614 {source="MONDO:equivalentTo"}
xref: HP:0001888 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D72.810 {source="DOID:614", source="MONDO:equivalentTo"}
xref: ICD9:288.51 {source="DOID:614", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008231 {source="DOID:614", source="MONDO:equivalentTo"}
xref: SCTID:48813009 {source="DOID:614", source="MONDO:equivalentTo"}
xref: UMLS:C0024312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7418"}
is_a: MONDO:0003785 {source="DOID:614", source="MESH:D008231"} ! leukopenia
property_value: IAO:0000589 "lymphopenia (disease)" xsd:string

[Term]
id: MONDO:0003784
name: nasal cavity carcinoma in situ
def: "A in situ carcinoma that involves the nasal cavity." [MONDO:patterns/location]
synonym: "carcinoma in situ of nasal cavities" EXACT [DOID:6148]
synonym: "carcinoma in situ of nasal cavity" EXACT [DOID:6148, MONDO:patterns/carcinoma_in_situ, NCIT:C4589]
synonym: "carcinoma in situ of the nasal cavity" EXACT [NCIT:C4589]
synonym: "nasal cavity carcinoma in situ" EXACT [NCIT:C4589]
synonym: "nasal cavity in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of nasal cavity" EXACT [NCIT:C4589]
synonym: "stage 0 carcinoma of the nasal cavity" EXACT [DOID:6148, NCIT:C4589]
synonym: "stage 0 nasal cavity cancer" EXACT [NCIT:C4589]
synonym: "stage 0 nasal cavity cancer aJCC v6, v7, and v8" EXACT [NCIT:C4589]
synonym: "stage 0 nasal cavity carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4589]
synonym: "stage 0 nasal cavity carcinoma aJCC v6" EXACT [NCIT:C4589]
synonym: "stage 0 nasal cavity carcinoma aJCC v7" EXACT [NCIT:C4589]
synonym: "stage 0 nasal cavity carcinoma aJCC v8" EXACT [NCIT:C4589]
xref: DOID:6148 {source="MONDO:equivalentTo"}
xref: ICD10CM:D02.3 {source="DOID:6148"}
xref: ICD9:231.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4589 {source="DOID:6148", source="MONDO:equivalentTo"}
xref: SCTID:92663007 {source="DOID:6148", source="MONDO:equivalentTo"}
xref: UMLS:C0347095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138077"}
is_a: MONDO:0003212 {source="MONDO:Redundant", source="NCIT:C4589"} ! nasal cavity carcinoma
is_a: MONDO:0004647 {source="DOID:6148", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0003785
name: leukopenia
def: "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leucopenia" EXACT [DOID:615]
synonym: "leukocytopenia" EXACT [NCIT:C26816]
synonym: "White blood cell decreased" EXACT [NCIT:C26816]
xref: DOID:615 {source="MONDO:equivalentTo"}
xref: ICD10CM:D72.819 {source="DOID:615"}
xref: ICD9:288.50 {source="DOID:615", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007970 {source="DOID:615", source="MONDO:equivalentTo"}
xref: NCIT:C26816 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: SCTID:142917003 {source="DOID:615"}
xref: SCTID:191348003 {source="DOID:615"}
xref: SCTID:84828003 {source="DOID:615", source="MONDO:equivalentTo"}
xref: UMLS:C0023530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6073"}
is_a: MONDO:0004805 {source="DOID:615", source="MESH:D007970"} ! leukocyte disorder

[Term]
id: MONDO:0003786
name: childhood testicular choriocarcinoma
def: "A choriocarcinoma that arises from the testis during childhood." [NCIT:C6544]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "childhood choriocarcinoma of testis" EXACT [NCIT:C6544]
synonym: "childhood choriocarcinoma of the testis" EXACT [NCIT:C6544]
synonym: "childhood testicular choriocarcinoma" EXACT [NCIT:C6544]
synonym: "choriocarcinoma of testis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric choriocarcinoma of testis" EXACT OMO:0003005 []
synonym: "paediatric choriocarcinoma of the testis" EXACT OMO:0003005 []
synonym: "paediatric testicular choriocarcinoma" EXACT OMO:0003005 []
synonym: "pediatric choriocarcinoma of testis" EXACT [MONDO:patterns/childhood, NCIT:C6544]
synonym: "pediatric choriocarcinoma of the testis" EXACT [NCIT:C6544]
synonym: "pediatric testicular choriocarcinoma" EXACT [DOID:6160, NCIT:C6544]
xref: DOID:6160 {source="MONDO:equivalentTo"}
xref: MEDGEN:272469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6544 {source="MONDO:equivalentTo", source="DOID:6160"}
xref: UMLS:C1333006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272469"}
is_a: MONDO:0003508 {source="DOID:6160", source="MONDO:Redundant", source="NCIT:C6544"} ! choriocarcinoma of testis
intersection_of: MONDO:0003508 ! choriocarcinoma of testis
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003787
name: childhood testicular mixed germ cell cancer
def: "A malignant mixed germ cell neoplasm that arises from the testis during childhood." [NCIT:C6542]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood mixed testicular germ cell cancer" EXACT [MONDO:design_pattern]
synonym: "childhood testicular mixed germ cell neoplasm" RELATED [NCIT:C6542]
synonym: "childhood testicular mixed germ cell tumor" RELATED [NCIT:C6542]
synonym: "childhood testicular mixed germ cell tumour" RELATED OMO:0003005 []
synonym: "mixed testicular germ cell cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric mixed testicular germ cell cancer" EXACT OMO:0003005 []
synonym: "paediatric testicular mixed germ cell neoplasm" RELATED OMO:0003005 []
synonym: "paediatric testicular mixed germ cell tumour" RELATED OMO:0003005 []
synonym: "pediatric mixed testicular germ cell cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric testicular mixed germ cell neoplasm" RELATED [NCIT:C6542]
synonym: "pediatric testicular mixed germ cell tumor" RELATED [DOID:6161, NCIT:C6542]
xref: DOID:6161 {source="MONDO:equivalentTo"}
xref: MEDGEN:272471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6542 {source="MONDO:equivalentTo", source="DOID:6161"}
xref: UMLS:C1333009 {source="MONDO:equivalentTo", source="MEDGEN:272471", source="MONDO:MEDGEN"}
is_a: MONDO:0003120 {source="DOID:6161", source="MONDO:Redundant", source="NCIT:C6542"} ! mixed testicular germ cell cancer
intersection_of: MONDO:0003120 ! mixed testicular germ cell cancer
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003788
name: childhood embryonal testis carcinoma
def: "An embryonal carcinoma that arises from the testis during childhood." [NCIT:C6545]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood embryonal carcinoma of testis" EXACT [NCIT:C6545]
synonym: "childhood embryonal carcinoma of the testis" EXACT [DOID:6162, NCIT:C6545]
synonym: "childhood testicular embryonal carcinoma" EXACT [NCIT:C6545]
synonym: "paediatric embryonal carcinoma of testis" EXACT OMO:0003005 []
synonym: "paediatric embryonal carcinoma of the testis" EXACT OMO:0003005 []
synonym: "paediatric testicular embryonal carcinoma" EXACT OMO:0003005 []
synonym: "pediatric embryonal carcinoma of testis" EXACT [NCIT:C6545]
synonym: "pediatric embryonal carcinoma of the testis" EXACT [NCIT:C6545]
synonym: "pediatric testicular embryonal carcinoma" EXACT [DOID:6162, MONDO:patterns/childhood, NCIT:C6545]
synonym: "testicular embryonal carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:6162 {source="MONDO:equivalentTo"}
xref: MEDGEN:272470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6545 {source="MONDO:equivalentTo", source="DOID:6162"}
xref: UMLS:C1333007 {source="MEDGEN:272470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006446 {source="DOID:6162", source="MONDO:Redundant", source="NCIT:C6545"} ! testicular embryonal carcinoma
intersection_of: MONDO:0006446 ! testicular embryonal carcinoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003789
name: hereditary papillary renal cell carcinoma
def: "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene." [NCIT:C9222]
subset: gard_rare {source="GARD:13157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:47044"}
subset: orphanet_rare {source="Orphanet:47044"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial renal papillary carcinoma" EXACT [NCIT:C9222]
synonym: "hereditary kidney papillary carcinoma" EXACT [NCIT:C9222]
synonym: "hereditary papillary carcinoma of kidney" EXACT [NCIT:C9222]
synonym: "hereditary papillary carcinoma of the kidney" EXACT [NCIT:C9222]
synonym: "hereditary papillary renal carcinoma" EXACT [DOID:6163, NCIT:C9222]
synonym: "hereditary papillary renal cell cancer" EXACT [NCIT:C9222]
synonym: "hereditary papillary renal cell carcinoma" EXACT CLINGEN_LABEL [MONDO:patterns/hereditary, NCIT:C9222]
synonym: "renal cell carcinoma, papillary" EXACT [OMIM:605074, OMIM:genemap2]
synonym: "renal cell carcinoma, papillary, 1, familial and somatic" EXACT [OMIM:605074, OMIM:genemap2]
xref: DOID:6163 {source="MONDO:equivalentTo"}
xref: GARD:13157 {source="MONDO:GARD"}
xref: MEDGEN:163907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9222 {source="MONDO:equivalentTo", source="DOID:6163"}
xref: OMIM:605074 {source="MONDO:equivalentTo"}
xref: Orphanet:47044 {source="MONDO:equivalentTo"}
xref: SCTID:715561008 {source="MONDO:equivalentTo"}
xref: UMLS:C0879257 {source="MEDGEN:163907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003008 {source="DOID:6163", source="MONDO:Redundant", source="NCIT:C9222"} ! hereditary renal cell carcinoma
is_a: MONDO:0017884 {source="MONDO:Redundant", source="NCIT:C9222"} ! papillary renal cell carcinoma
intersection_of: MONDO:0017884 ! papillary renal cell carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0003790
name: prostatic urethra urothelial carcinoma
def: "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra." [NCIT:C39900]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "prostatic urethra urothelial carcinoma" EXACT [NCIT:C39900]
xref: DOID:6166 {source="MONDO:equivalentTo"}
xref: MEDGEN:271406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39900 {source="MONDO:equivalentTo", source="DOID:6166"}
xref: UMLS:C1514522 {source="MEDGEN:271406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002834 {source="NCIT:C39900"} ! primary prostate urothelial carcinoma
is_a: MONDO:0002836 {source="MONDO:Redundant", source="NCIT:C39900"} ! urethra transitional cell carcinoma
is_a: MONDO:0003791 {source="DOID:6166", source="NCIT:C39900"} ! prostatic urethral cancer
intersection_of: MONDO:0002836 ! urethra transitional cell carcinoma
intersection_of: disease_arises_from_structure UBERON:0001335 ! prostatic urethra
relationship: disease_arises_from_structure UBERON:0015777 ! transitional epithelium of prostatic urethra

[Term]
id: MONDO:0003791
name: prostatic urethral cancer
def: "A male urethral cancer that involves the prostatic urethra." [MONDO:patterns/location]
synonym: "male urethral cancer of prostatic urethra" EXACT [MONDO:design_pattern]
synonym: "prostatic urethra male urethral cancer" EXACT [MONDO:patterns/location]
synonym: "prostatic urethral malignant neoplasm" EXACT [NCIT:C39870]
xref: DOID:6167 {source="MONDO:equivalentTo"}
xref: MEDGEN:308065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39870 {source="MONDO:equivalentTo", source="DOID:6167"}
xref: UMLS:C1514523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308065"}
is_a: MONDO:0004197 {source="DOID:6167", source="MONDO:Redundant", source="NCIT:C39870"} ! male urethral cancer
intersection_of: MONDO:0004197 ! male urethral cancer
intersection_of: disease_has_location UBERON:0001335 ! prostatic urethra

[Term]
id: MONDO:0003792
name: ovarian carcinosarcoma
alt_id: MONDO:0016247
def: "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." [NCIT:C9192]
subset: gard_rare {source="GARD:7296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213512"}
subset: orphanet_rare {source="Orphanet:213512"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinosarcoma of ovary" EXACT [NCIT:C9192]
synonym: "carcinosarcoma of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian neoplasm of ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian neoplasm of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian tumor of ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian tumor of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Mullerian tumour of ovary" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal Mullerian tumour of the ovary" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal Müllerian neoplasm of ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Müllerian neoplasm of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Müllerian tumor of ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Müllerian tumor of the ovary" EXACT [NCIT:C9192]
synonym: "malignant mixed mesodermal Müllerian tumour of ovary" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal Müllerian tumour of the ovary" EXACT OMO:0003005 []
synonym: "malignant mixed Müllerian tumor of the ovary" RELATED [Orphanet:213512]
synonym: "malignant mixed Müllerian tumour of the ovary" RELATED OMO:0003005 []
synonym: "MMMT of the ovary" EXACT [Orphanet:213512]
synonym: "ovarian carcinosarcoma" EXACT [MONDO:0006331, NCIT:C9192, Orphanet:213512]
synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumor" RELATED [ONCOTREE:OCS]
synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumour" RELATED OMO:0003005 []
synonym: "ovarian malignant mesodermal (Mullerian) mixed tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [DOID:6170]
synonym: "ovarian malignant mesodermal (Mullerian) mixed tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mesodermal (mullerian) mixed tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mesodermal (Müllerian) mixed tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mesodermal (Müllerian) mixed tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mixed epithelial mesenchymal tumor" EXACT [Orphanet:213512]
synonym: "ovarian malignant mixed epithelial mesenchymal tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mixed mesodermal Mullerian neoplasm" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal Mullerian tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal Mullerian tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mixed mesodermal Müllerian neoplasm" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal Müllerian tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed mesodermal Müllerian tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mixed Mullerian neoplasm" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed Mullerian tumor" EXACT [DOID:6170, NCIT:C9192, Orphanet:213512]
synonym: "ovarian malignant mixed Mullerian tumour" EXACT OMO:0003005 []
synonym: "ovarian malignant mixed Müllerian neoplasm" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed Müllerian tumor" EXACT [NCIT:C9192]
synonym: "ovarian malignant mixed Müllerian tumour" EXACT OMO:0003005 []
synonym: "ovarian MMMT" EXACT [DOID:6170, NCIT:C9192]
synonym: "ovary carcinosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:6170 {source="MONDO:equivalentTo"}
xref: EFO:1000412 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7296 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:213512/ntbt", source="Orphanet:213512"}
xref: MEDGEN:140705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9192 {source="DOID:6170", source="MONDO:equivalentTo", source="EFO:1000412"}
xref: ONCOTREE:OCS {source="MONDO:equivalentTo"}
xref: Orphanet:213512 {source="MONDO:equivalentTo"}
xref: SCTID:702368000 {source="DOID:6170", source="MONDO:equivalentTo"}
xref: UMLS:C0392998 {source="MEDGEN:140705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002928 {source="MONDO:Redundant", source="NCIT:C9192/inferred"} ! carcinosarcoma
is_a: MONDO:0003812 {source="NCIT:C9192"} ! ovarian endometrial cancer
is_a: MONDO:0005140 {source="EFO:1000412", source="MONDO:Redundant"} ! ovarian carcinoma
is_a: MONDO:0018364 {source="DOID:6170", source="NCIT:C9192/inferred", source="Orphanet:213512"} ! malignant epithelial tumor of ovary
intersection_of: MONDO:0002928 ! carcinosarcoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003793
name: obsolete uterine carcinosarcoma
is_obsolete: true
replaced_by: MONDO:0006485

[Term]
id: MONDO:0003794
name: obsolete mediastinal neurilemmoma
is_obsolete: true
replaced_by: MONDO:0004398

[Term]
id: MONDO:0003795
name: ovarian small cell carcinoma
def: "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." [NCIT:C27390]
subset: gard_rare {source="GARD:10411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370396"}
subset: orphanet_rare {source="Orphanet:370396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovarian small cell cancer" EXACT [NCIT:C27390]
synonym: "ovarian small cell carcinoma" EXACT [MONDO:0006341, NCIT:C27390]
synonym: "ovarian small cell NEC" EXACT [NCIT:C27390]
synonym: "ovarian small cell neuroendocrine carcinoma" EXACT [NCIT:C27390]
synonym: "ovary small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "SCCO" EXACT ABBREVIATION [Orphanet:370396]
synonym: "small cell carcinoma of ovary" EXACT [MONDO:design_pattern]
synonym: "small cell carcinoma of the ovary" EXACT [MONDO:0018272]
synonym: "small cell ovarian carcinoma" EXACT [Orphanet:370396]
xref: DOID:6179 {source="MONDO:equivalentTo"}
xref: EFO:1000431 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10411 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:370396", source="Orphanet:370396/ntbt"}
xref: MEDGEN:389177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27390 {source="DOID:6179", source="MONDO:equivalentTo", source="EFO:1000431"}
xref: ONCOTREE:SCCO {source="MONDO:equivalentTo"}
xref: Orphanet:370396 {source="MONDO:equivalentTo"}
xref: UMLS:C2212006 {source="MEDGEN:389177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005140 {source="DOID:6179", source="EFO:1000431", source="MONDO:Entailed", source="NCIT:C27390"} ! ovarian carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003796
name: rectum Kaposi sarcoma
def: "A Kaposi sarcoma arising from the rectum." [NCIT:C5550]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Kaposi's sarcoma (disease) of rectum" EXACT []
synonym: "Kaposi's sarcoma of rectum" EXACT [DOID:6190, NCIT:C5550]
synonym: "Kaposi's sarcoma of the rectum" EXACT [NCIT:C5550]
synonym: "rectal Kaposi sarcoma" EXACT [NCIT:C5550]
synonym: "rectal Kaposi's sarcoma" EXACT [NCIT:C5550]
synonym: "rectum Kaposi sarcoma" EXACT [DOID:6190]
synonym: "rectum Kaposi's sarcoma" RELATED [DOID:6190]
synonym: "rectum Kaposi's sarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6190 {source="MONDO:equivalentTo"}
xref: MEDGEN:277575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5550 {source="DOID:6190", source="MONDO:equivalentTo"}
xref: UMLS:C1335681 {source="MONDO:equivalentTo", source="MEDGEN:277575", source="MONDO:MEDGEN"}
is_a: MONDO:0002168 {source="DOID:6190", source="MONDO:Redundant", source="NCIT:C5550"} ! rectum sarcoma
is_a: MONDO:0005055 {source="DOID:6190", source="MONDO:Entailed", source="NCIT:C5550/inferred"} ! Kaposi's sarcoma
intersection_of: MONDO:0005055 ! Kaposi's sarcoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0003797
name: obsolete inflammatory MFH
is_obsolete: true
replaced_by: MONDO:0006480

[Term]
id: MONDO:0003798
name: obsolete epithelioid sarcoma
is_obsolete: true
replaced_by: MONDO:0017387

[Term]
id: MONDO:0003799
name: conjunctivitis
def: "Inflammation of the conjunctiva of the eye." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "conjunctiva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "conjunctivitis" EXACT [MONDO:ambiguous]
synonym: "conjunctivitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "inflammation of conjunctiva" EXACT []
synonym: "Madras eye" RELATED [DOID:6195]
synonym: "pink eye" EXACT [NCIT:C34504]
xref: DOID:6195 {source="MONDO:equivalentTo"}
xref: EFO:0009450 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000509 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H10 {source="DOID:6195"}
xref: ICD10CM:H10.9 {source="DOID:6195"}
xref: ICD9:372.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6195"}
xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003231 {source="MONDO:equivalentTo", source="DOID:6195"}
xref: NCIT:C34504 {source="MONDO:equivalentTo", source="DOID:6195"}
xref: SCTID:193857008 {source="DOID:6195"}
xref: SCTID:193858003 {source="DOID:6195"}
xref: SCTID:193875009 {source="DOID:6195"}
xref: SCTID:9826008 {source="MONDO:equivalentTo", source="DOID:6195"}
xref: UMLS:C0009763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1093"}
is_a: MONDO:0006170 {source="DOID:6195", source="MESH:D003231", source="MONDO:Redundant"} ! conjunctival disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001811 ! conjunctiva
property_value: IAO:0000589 "conjunctivitis (disease)" xsd:string

[Term]
id: MONDO:0003800
name: conventional malignant hemangiopericytoma
def: "A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity." [NCIT:C9425]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "conventional malignant hemangiopericytoma" EXACT [NCIT:C9425]
xref: DOID:6197 {source="MONDO:equivalentTo"}
xref: MEDGEN:232395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9425 {source="MONDO:equivalentTo", source="DOID:6197"}
xref: UMLS:C1333158 {source="MEDGEN:232395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005094 {source="DOID:6197", source="MONDO:Redundant", source="NCIT:C9425/inferred"} ! hemangiopericytoma
is_a: MONDO:0009330 {source="NCIT:C9425"} ! hemangiopericytoma, malignant

[Term]
id: MONDO:0003801
name: corneal intraepithelial neoplasm
def: "A squamous cell intraepithelial neoplasia that involves the cornea." [MONDO:patterns/location]
synonym: "cornea intraepithelial neoplasia" EXACT [NCIT:C6093]
synonym: "cornea squamous cell intraepithelial neoplasia" EXACT [MONDO:patterns/location]
synonym: "corneal intraepithelial neoplasia" EXACT [NCIT:C6093]
synonym: "intraepithelial neoplasia of cornea" EXACT [NCIT:C6093]
synonym: "intraepithelial neoplasia of the cornea" EXACT [NCIT:C6093]
xref: DOID:6198 {source="MONDO:equivalentTo"}
xref: MEDGEN:232396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6093 {source="MONDO:equivalentTo", source="DOID:6198"}
xref: SCTID:420835009 {source="MONDO:equivalentTo", source="DOID:6198"}
xref: UMLS:C1333159 {source="MEDGEN:232396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021238 {source="MONDO:Redundant", source="NCIT:C6093"} ! cornea neoplasm
is_a: MONDO:0024475 {source="MONDO:Redundant", source="NCIT:C6093"} ! squamous cell intraepithelial neoplasia
intersection_of: MONDO:0024475 ! squamous cell intraepithelial neoplasia
intersection_of: disease_has_location UBERON:0000964 ! cornea
relationship: excluded_subClassOf MONDO:0000611 {source="DOID:6198", source="https://orcid.org/0000-0001-5208-3432"} ! pre-malignant neoplasm

[Term]
id: MONDO:0003802
name: cornea cancer
def: "A malignant neoplasm involving the cornea." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of cornea" EXACT [MONDO:patterns/cancer]
synonym: "cornea cancer" EXACT [MONDO:patterns/location]
synonym: "corneal tumor" BROAD [DOID:6199, NCIT:C4361]
synonym: "corneal tumour" BROAD OMO:0003005 []
synonym: "malignant cornea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3565]
synonym: "malignant cornea tumor" EXACT [NCIT:C3565]
synonym: "malignant cornea tumour" EXACT OMO:0003005 []
synonym: "malignant corneal neoplasm" EXACT [NCIT:C3565]
synonym: "malignant corneal tumor" EXACT [DOID:6199, NCIT:C3565]
synonym: "malignant corneal tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of cornea" EXACT [DOID:6199, MONDO:patterns/cancer, NCIT:C3565]
synonym: "malignant neoplasm of cornea (primary)" EXACT [DOID:6199]
synonym: "malignant neoplasm of the cornea" EXACT [NCIT:C3565]
synonym: "malignant tumor of cornea" EXACT [NCIT:C3565]
synonym: "malignant tumor of the cornea" EXACT [NCIT:C3565]
synonym: "malignant tumour of cornea" EXACT OMO:0003005 []
synonym: "malignant tumour of the cornea" EXACT OMO:0003005 []
synonym: "neoplasm of cornea" BROAD EXCLUDE [DOID:6199]
xref: DOID:6199 {source="MONDO:equivalentTo"}
xref: ICD10CM:C69.1 {source="DOID:6199"}
xref: ICD9:190.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6199"}
xref: MEDGEN:102282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3565 {source="MONDO:equivalentTo", source="DOID:6199"}
xref: NCIT:C4361 {source="DOID:6199"}
xref: SCTID:126997008 {source="DOID:6199"}
xref: SCTID:363464006 {source="MONDO:equivalentTo", source="DOID:6199"}
xref: SCTID:93766000 {source="DOID:6199"}
xref: UMLS:C0153629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102282"}
is_a: MONDO:0000942 {source="MONDO:Redundant", source="NCIT:C3565/inferred"} ! corneal disorder
is_a: MONDO:0002236 {source="DOID:6199", source="MONDO:Redundant", source="NCIT:C3565"} ! ocular cancer
is_a: MONDO:0021238 {source="MONDO:Redundant", source="NCIT:C3565"} ! cornea neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0003803
name: aortic valve disorder
def: "A disease involving the aortic valve." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "aortic valve disease" EXACT [MONDO:patterns/location]
synonym: "aortic valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "aortic valve disorder" EXACT [NCIT:C78650]
synonym: "disease of aortic valve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of aortic valve" EXACT []
synonym: "disorder of aortic valve" EXACT [MONDO:patterns/location_top]
xref: DOID:62 {source="MONDO:equivalentTo"}
xref: EFO:0009531 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:395 {source="DOID:62"}
xref: ICD9:424.1 {source="DOID:62"}
xref: MEDGEN:226776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563178 {source="DOID:62"}
xref: NCIT:C78650 {source="MONDO:equivalentTo", source="DOID:62"}
xref: SCTID:194988001 {source="DOID:62"}
xref: SCTID:8722008 {source="DOID:62"}
xref: UMLS:C1260873 {source="MEDGEN:226776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002869 {source="DOID:62", source="MONDO:Redundant", source="NCIT:C78650"} ! heart valve disorder
is_a: MONDO:0005561 {source="https://orcid.org/0000-0002-6601-2165"} ! aortic disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002137 ! aortic valve

[Term]
id: MONDO:0003804
name: obsolete blood protein disease
comment: Reason: out of scope. Term to consider: none.
synonym: "blood Protein disorder" RELATED [MESH:D001796]
synonym: "blood protein disorder" EXACT [DOID:620]
synonym: "disorder, blood Protein" RELATED [MESH:D001796]
synonym: "disorders, blood Protein" RELATED [MESH:D001796]
synonym: "Protein disorder, blood" RELATED [MESH:D001796]
synonym: "Protein disorders, blood" RELATED [MESH:D001796]
xref: DOID:620 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D001796 {source="MONDO:obsoleteEquivalent", source="DOID:620"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginMolecular"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4624" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0003805
name: malignant pericardial mesothelioma
def: "A rare neoplasm of mesothelial origin that arises from the pericardium." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant mesothelioma (disease) of pericardium" EXACT []
synonym: "malignant mesothelioma of pericardium" EXACT [DOID:6201, NCIT:C7631]
synonym: "malignant mesothelioma of the pericardium" EXACT [NCIT:C7631]
synonym: "malignant pericardial mesothelioma" EXACT [DOID:6201, NCIT:C7631]
synonym: "pericardial malignant mesothelioma" EXACT [NCIT:C7631]
synonym: "pericardial mesothelioma" RELATED [MONDO:ambiguous]
synonym: "pericardium malignant mesothelioma (disease)" EXACT [MONDO:patterns/location]
synonym: "pericardium mesothelioma" EXACT [MONDO:patterns/location]
xref: DOID:6201 {source="MONDO:equivalentTo"}
xref: HP:0100004 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C45.2 {source="DOID:6201"}
xref: MEDGEN:233322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7631 {source="DOID:6201", source="MONDO:equivalentTo"}
xref: NCIT:C7632 {source="DOID:6201"}
xref: NCIT:C8703 {source="DOID:6201"}
xref: SCTID:109383000 {source="DOID:6201", source="MONDO:equivalentTo"}
xref: SCTID:187885008 {source="DOID:6201"}
xref: UMLS:C1335381 {source="MONDO:equivalentTo", source="MEDGEN:233322", source="MONDO:MEDGEN"}
is_a: MONDO:0001322 {source="DOID:6201", source="MONDO:Redundant", source="NCIT:C7631"} ! pericardium cancer
is_a: MONDO:0006292 {source="DOID:6201", source="MONDO:Redundant", source="NCIT:C7631"} ! malignant mesothelioma
intersection_of: MONDO:0006292 ! malignant mesothelioma
intersection_of: disease_has_location UBERON:0002407 ! pericardium

[Term]
id: MONDO:0003806
name: thyroid hyalinizing trabecular adenoma
def: "A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HTAT" RELATED ABBREVIATION [ONCOTREE:HTAT]
synonym: "hyalinizing trabecular adenoma of the thyroid" EXACT [NCIT:C6846]
synonym: "hyalinizing trabecular adenoma of thyroid" EXACT [NCIT:C6846]
synonym: "hyalinizing trabecular tumor" EXACT [NCIT:C6846]
synonym: "hyalinizing trabecular tumour" EXACT OMO:0003005 []
synonym: "paraganglioma-like adenoma" EXACT [NCIT:C6846]
synonym: "PLAT" EXACT ABBREVIATION [DOID:6203, NCIT:C6846]
synonym: "thyroid gland hyalinizing trabecular tumor" EXACT [NCIT:C6846]
synonym: "thyroid gland hyalinizing trabecular tumour" EXACT OMO:0003005 []
synonym: "thyroid hyalinizing trabecular adenoma" EXACT [NCIT:C6846]
xref: DOID:6203 {source="MONDO:equivalentTo"}
xref: ICDO:8336/0 {source="NCIT:C6846"}
xref: MEDGEN:277820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6846 {source="DOID:6203", source="MONDO:equivalentTo"}
xref: ONCOTREE:HTAT {source="MONDO:equivalentTo"}
xref: UMLS:C1336751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277820"}
is_a: MONDO:0015074 {source="EFO:1000588", source="MONDO:Redundant", source="NCIT:C6846", source="ONCOTREE:HTAT"} ! thyroid tumor
relationship: disease_arises_from_structure CL:0002258 {source="NCIT:C6846"} ! thyroid follicular cell
relationship: excluded_subClassOf MONDO:0005032 {source="DOID:6203", source="https://orcid.org/0000-0001-5208-3432"} ! follicular thyroid adenoma

[Term]
id: MONDO:0003807
name: obsolete follicular thyroid adenoma
is_obsolete: true
replaced_by: MONDO:0005032

[Term]
id: MONDO:0003808
name: mediastinal extraskeletal osteosarcoma
def: "An osteosarcoma arising from the mediastinum." [NCIT:C6615]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinal extraskeletal osteosarcoma" EXACT [NCIT:C6615]
synonym: "mediastinal osteogenic sarcoma" EXACT [NCIT:C6615]
synonym: "mediastinal osteosarcoma" EXACT [NCIT:C6615]
synonym: "mediastinum osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteogenic sarcoma of mediastinum" EXACT [NCIT:C6615]
synonym: "osteogenic sarcoma of the mediastinum" EXACT [NCIT:C6615]
synonym: "osteosarcoma of mediastinum" EXACT [DOID:6208, NCIT:C6615]
synonym: "osteosarcoma of the mediastinum" EXACT [NCIT:C6615]
xref: DOID:6208 {source="MONDO:equivalentTo"}
xref: MEDGEN:235314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6615 {source="DOID:6208", source="MONDO:equivalentTo"}
xref: UMLS:C1334675 {source="MEDGEN:235314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002621 {source="DOID:6208", source="NCIT:C6615"} ! extraosseous osteosarcoma
is_a: MONDO:0002852 {source="DOID:6208", source="MONDO:Redundant", source="NCIT:C6615"} ! mediastinum sarcoma
intersection_of: MONDO:0009807 ! osteosarcoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0003809
name: malignant mediastinum hemangiopericytoma
def: "A malignant hemangiopericytoma arising in the mediastinum." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant hemangiopericytoma of mediastinum" EXACT [DOID:6209, NCIT:C6608]
synonym: "malignant hemangiopericytoma of the mediastinum" EXACT [NCIT:C6608]
synonym: "malignant mediastinal hemangiopericytoma" EXACT [NCIT:C6608]
synonym: "mediastinum hemangiopericytoma" EXACT [MONDO:patterns/location]
synonym: "mediastinum spindle cell tumor" EXACT [MONDO:patterns/location]
synonym: "mediastinum spindle cell tumour" EXACT OMO:0003005 []
xref: DOID:6209 {source="MONDO:equivalentTo"}
xref: MEDGEN:235298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6608 {source="MONDO:equivalentTo", source="DOID:6209"}
xref: UMLS:C1334598 {source="MEDGEN:235298", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005094 {source="DOID:6209", source="MONDO:Entailed", source="NCIT:C6608/inferred"} ! hemangiopericytoma
is_a: MONDO:0009330 {source="NCIT:C6608"} ! hemangiopericytoma, malignant
intersection_of: MONDO:0005094 ! hemangiopericytoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum
relationship: excluded_subClassOf MONDO:0002852 {source="DOID:6209", source="https://orcid.org/0000-0001-5208-3432"} ! mediastinum sarcoma

[Term]
id: MONDO:0003810
name: bladder diffuse clear cell adenocarcinoma
def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern." [NCIT:C39849]
synonym: "bladder diffuse clear cell adenocarcinoma" EXACT [NCIT:C39849]
xref: DOID:6210 {source="MONDO:equivalentTo"}
xref: MEDGEN:267058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39849 {source="MONDO:equivalentTo", source="NCIT:C39849", source="DOID:6210"}
xref: UMLS:C1511187 {source="MEDGEN:267058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003386 {source="DOID:6210", source="NCIT:C39849"} ! bladder clear cell adenocarcinoma

[Term]
id: MONDO:0003811
name: ovarian seromucinous tumor
def: "A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous." [NCIT:C4508]
synonym: "mixed epithelial neoplasm of ovary" EXACT [NCIT:C4508]
synonym: "mixed epithelial neoplasm of the ovary" EXACT [NCIT:C4508]
synonym: "mixed epithelial tumor of ovary" EXACT [NCIT:C4508]
synonym: "mixed epithelial tumor of the ovary" EXACT [NCIT:C4508]
synonym: "mixed epithelial tumour of ovary" EXACT OMO:0003005 []
synonym: "mixed epithelial tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian mixed epithelial neoplasm" EXACT [NCIT:C4508]
synonym: "ovarian mixed epithelial tumor" EXACT [DOID:6211, NCIT:C4508]
synonym: "ovarian mixed epithelial tumour" EXACT OMO:0003005 []
synonym: "ovarian Seromucinous tumor" EXACT [NCIT:C4508]
synonym: "ovarian Seromucinous tumour" EXACT OMO:0003005 []
xref: DOID:6211 {source="MONDO:equivalentTo"}
xref: MEDGEN:83409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4508 {source="MONDO:equivalentTo", source="DOID:6211"}
xref: SCTID:254855000 {source="MONDO:equivalentTo", source="DOID:6211"}
xref: UMLS:C0346166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83409"}
is_a: MONDO:0002229 {source="NCIT:C4508"} ! ovarian epithelial tumor
is_a: MONDO:0021043 {source="NCIT:C4508"} ! mixed neoplasm
relationship: excluded_subClassOf MONDO:0000646 {source="DOID:6211", source="https://orcid.org/0000-0001-5208-3432"} ! ovarian benign neoplasm

[Term]
id: MONDO:0003812
name: ovarian endometrial cancer
def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endometrioid neoplasm of ovary" EXACT [DOID:6212, NCIT:C6257]
synonym: "endometrioid tumor of ovary" EXACT [MONDO:design_pattern]
synonym: "endometrioid tumour of ovary" EXACT OMO:0003005 []
synonym: "malignant ovarian endometrioid tumor" EXACT [DOID:6212, NCIT:C40051]
synonym: "malignant ovarian endometrioid tumour" EXACT OMO:0003005 []
synonym: "ovarian endometrioid neoplasm" EXACT [DOID:6212]
synonym: "ovary endometrioid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ovary endometrioid tumour" EXACT OMO:0003005 []
synonym: "ovary female reproductive endometrioid cancer" EXACT [MONDO:patterns/location]
xref: DOID:6212 {source="MONDO:equivalentTo"}
xref: MEDGEN:276545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40051 {source="DOID:6212", source="MONDO:equivalentTo"}
xref: NCIT:C6257 {source="DOID:6212"}
xref: UMLS:C1518231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276545"}
is_a: MONDO:0002480 {source="DOID:6212", source="MONDO:Redundant", source="NCIT:C40051/inferred"} ! endometrioid tumor
is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40051"} ! malignant epithelial tumor of ovary
intersection_of: MONDO:0002480 ! endometrioid tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003813
name: ovarian papillary tumor
def: "A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma." [NCIT:C8430]
synonym: "ovarian papillary neoplasm" EXACT [NCIT:C8430]
synonym: "ovarian papillary tumor" EXACT [DOID:6214, NCIT:C8430]
synonym: "ovarian papillary tumor (morphologic abnormality)" EXACT [DOID:6214]
synonym: "ovarian papillary tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "papillary neoplasm of ovary" EXACT [NCIT:C8430]
synonym: "papillary neoplasm of the ovary" EXACT [NCIT:C8430]
synonym: "papillary tumor of ovary" EXACT [DOID:6214, NCIT:C8430]
synonym: "papillary tumor of the ovary" EXACT [NCIT:C8430]
synonym: "papillary tumour of ovary" EXACT OMO:0003005 []
synonym: "papillary tumour of the ovary" EXACT OMO:0003005 []
xref: DOID:6214 {source="MONDO:equivalentTo"}
xref: MEDGEN:99195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8430 {source="DOID:6214", source="MONDO:equivalentTo"}
xref: SCTID:189683008 {source="DOID:6214"}
xref: SCTID:253023005 {source="DOID:6214"}
xref: UMLS:C0476121 {source="MONDO:equivalentTo", source="MEDGEN:99195", source="MONDO:MEDGEN"}
is_a: MONDO:0002229 {source="DOID:6214", source="NCIT:C8430"} ! ovarian epithelial tumor
is_a: MONDO:0021096 {source="NCIT:C8430"} ! papillary epithelial neoplasm

[Term]
id: MONDO:0003814
name: obsolete gastric diffuse adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0005017

[Term]
id: MONDO:0003815
name: obsolete Cronkhite-Canada syndrome
is_obsolete: true
replaced_by: MONDO:0008283

[Term]
id: MONDO:0003816
name: articular cartilage disorder
def: "A disease involving the articular cartilage of joint." [https://orcid.org/0000-0002-6601-2165]
synonym: "articular cartilage disorder" EXACT []
synonym: "articular cartilage disorder involving ankle and foot" NARROW [DOID:6227, ICD9CM:718.07]
synonym: "articular cartilage disorder involving forearm" NARROW [DOID:6227, ICD9CM:718.03]
synonym: "articular cartilage disorder involving hand" NARROW [DOID:6227, ICD9CM:718.04]
synonym: "articular cartilage disorder involving multiple sites" NARROW [DOID:6227, ICD9CM:718.09]
synonym: "articular cartilage disorder involving pelvic region and thigh" NARROW [DOID:6227, ICD9CM:718.05]
synonym: "articular cartilage disorder involving shoulder region" NARROW [DOID:6227, ICD9CM:718.01]
synonym: "articular cartilage disorder involving upper arm" NARROW [DOID:6227, ICD9CM:718.02]
synonym: "articular cartilage disorder of ankle and/or foot" NARROW [DOID:6227]
synonym: "articular cartilage disorder of forearm" NARROW [DOID:6227]
synonym: "articular cartilage disorder of hand" NARROW [DOID:6227]
synonym: "articular cartilage disorder of multiple sites" NARROW [DOID:6227]
synonym: "articular cartilage disorder of shoulder region" NARROW [DOID:6227]
synonym: "articular cartilage disorder of the pelvic region and thigh" NARROW [DOID:6227]
synonym: "articular cartilage disorder of upper arm" NARROW [DOID:6227]
synonym: "articular cartilage of joint disease" EXACT [MONDO:patterns/location]
synonym: "articular cartilage of joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of articular cartilage of joint" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of articular cartilage of joint" EXACT []
synonym: "disorder of articular cartilage" RELATED []
synonym: "disorder of articular cartilage of joint" EXACT [MONDO:patterns/location_top]
xref: DOID:6227 {source="MONDO:equivalentTo"}
xref: ICD9:718.0 {source="DOID:6227"}
xref: ICD9:718.00 {source="DOID:6227"}
xref: ICD9:718.02 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156523007 {source="DOID:6227"}
xref: SCTID:202132006 {source="DOID:6227"}
xref: SCTID:202145005 {source="DOID:6227"}
xref: SCTID:268062001 {source="DOID:6227"}
xref: SCTID:287014004 {source="DOID:6227"}
xref: SCTID:53417006 {source="DOID:6227", source="MONDO:equivalentTo"}
xref: UMLS:C0158073 {source="MEDGEN:510440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:6227", source="MONDO:Redundant"} ! arthropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0010996 ! articular cartilage of joint

[Term]
id: MONDO:0003817
name: obsolete peritoneal serous papillary adenocarcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/392" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018368

[Term]
id: MONDO:0003818
name: childhood mature teratoma of the ovary
def: "A mature teratoma that arises from the ovary and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood mature ovarian teratoma" EXACT [MONDO:design_pattern]
synonym: "childhood mature teratoma of ovary" EXACT [NCIT:C6548]
synonym: "childhood ovarian mature teratoma" EXACT [NCIT:C6548]
synonym: "mature ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric mature ovarian teratoma" EXACT OMO:0003005 []
synonym: "paediatric mature teratoma of ovary" EXACT OMO:0003005 []
synonym: "paediatric mature teratoma of the ovary" EXACT OMO:0003005 []
synonym: "paediatric ovarian mature teratoma" EXACT OMO:0003005 []
synonym: "pediatric mature ovarian teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric mature teratoma of ovary" EXACT [DOID:6229, NCIT:C6548]
synonym: "pediatric mature teratoma of the ovary" EXACT [NCIT:C6548]
synonym: "pediatric ovarian mature teratoma" EXACT [NCIT:C6548]
xref: DOID:6229 {source="MONDO:equivalentTo"}
xref: MEDGEN:232354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6548 {source="MONDO:equivalentTo", source="DOID:6229"}
xref: UMLS:C1332991 {source="MONDO:equivalentTo", source="MEDGEN:232354", source="MONDO:MEDGEN"}
is_a: MONDO:0003819 {source="MONDO:Redundant", source="NCIT:C6548"} ! childhood teratoma of the ovary
is_a: MONDO:0003820 {source="DOID:6229", source="MONDO:Redundant", source="NCIT:C6548"} ! mature ovarian teratoma
intersection_of: MONDO:0003820 ! mature ovarian teratoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003819
name: childhood teratoma of the ovary
def: "A mature or immature teratoma that arises from the ovary and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood ovarian teratoma" EXACT [NCIT:C6554]
synonym: "childhood teratoma of ovary" EXACT [NCIT:C6554]
synonym: "childhood teratoma of the ovary" EXACT [NCIT:C6554]
synonym: "ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric ovarian teratoma" EXACT OMO:0003005 []
synonym: "paediatric teratoma of ovary" EXACT OMO:0003005 []
synonym: "paediatric teratoma of the ovary" EXACT OMO:0003005 []
synonym: "pediatric ovarian teratoma" EXACT [MONDO:patterns/childhood, NCIT:C6554]
synonym: "pediatric teratoma of ovary" EXACT [DOID:6230, NCIT:C6554]
synonym: "pediatric teratoma of the ovary" EXACT [NCIT:C6554]
xref: DOID:6230 {source="MONDO:equivalentTo"}
xref: MEDGEN:272466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6554 {source="MONDO:equivalentTo", source="DOID:6230"}
xref: UMLS:C1332992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272466"}
is_a: MONDO:0005602 {source="DOID:6230", source="MONDO:Redundant", source="NCIT:C6554"} ! ovarian teratoma
intersection_of: MONDO:0005602 ! ovarian teratoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003820
name: mature ovarian teratoma
def: "An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." [NCIT:C8112]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mature ovarian teratoma" EXACT [NCIT:C8112]
synonym: "mature teratoma" RELATED [ONCOTREE:OMT]
synonym: "mature teratoma of ovary" EXACT [DOID:6231, NCIT:C8112]
synonym: "mature teratoma of the ovary" RELATED [NCIT:C8112]
synonym: "ovary mature teratoma" EXACT [MONDO:patterns/location]
xref: DOID:6231 {source="MONDO:equivalentTo"}
xref: MEDGEN:233672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8112 {source="NCIT:C8112", source="MONDO:equivalentTo", source="DOID:6231"}
xref: ONCOTREE:OMT {source="MONDO:equivalentTo"}
xref: UMLS:C1334637 {source="MEDGEN:233672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003517 {source="DOID:6231", source="MONDO:Redundant", source="NCIT:C8112"} ! mature teratoma
is_a: MONDO:0003821 {source="DOID:6231", source="NCIT:C8112"} ! ovarian biphasic or triphasic teratoma
intersection_of: MONDO:0003517 ! mature teratoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003821
name: ovarian biphasic or triphasic teratoma
def: "A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm." [NCIT:C39992]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian biphasic or triphasic teratoma" EXACT [NCIT:C39992]
xref: DOID:6232 {source="MONDO:equivalentTo"}
xref: MEDGEN:274086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39992 {source="NCIT:C39992", source="MONDO:equivalentTo", source="DOID:6232"}
xref: UMLS:C1518691 {source="MEDGEN:274086", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005602 {source="DOID:6232", source="NCIT:C39992"} ! ovarian teratoma

[Term]
id: MONDO:0003822
name: non-invasive bladder papillary urothelial neoplasm
def: "A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas." [NCIT:P378]
synonym: "bladder papillary neoplasm of low malignant potential" EXACT [DOID:6239]
synonym: "bladder PUNLMP" EXACT [DOID:6239, NCIT:C27884]
synonym: "non-invasive bladder papillary urothelial neoplasm" EXACT [NCIT:C39831]
synonym: "papillary urothelial neoplasm of low malignant potential" EXACT [DOID:6239]
xref: DOID:6239 {source="MONDO:equivalentTo"}
xref: MEDGEN:309424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27884 {source="DOID:6239"}
xref: NCIT:C39831 {source="DOID:6239", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:128625004 {source="DOID:6239"}
xref: UMLS:C1518358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309424"}
is_a: MONDO:0003442 {source="DOID:6239", source="NCIT:C39831"} ! bladder papillary urothelial neoplasm
is_a: MONDO:0003755 {source="NCIT:C39831"} ! urinary tract non-invasive transitional cell neoplasm

[Term]
id: MONDO:0003823
name: obsolete transient hypogammaglobulinemia of infancy
is_obsolete: true
replaced_by: MONDO:0015698

[Term]
id: MONDO:0003824
name: hereditary kidney oncocytoma
def: "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome." [NCIT:C8960]
synonym: "familial renal oncocytoma" EXACT [NCIT:C8960]
synonym: "hereditary kidney oncocytoma" EXACT [MONDO:patterns/hereditary, NCIT:C8960]
synonym: "hereditary renal oncocytoma" EXACT [NCIT:C8960]
xref: DOID:6244 {source="MONDO:equivalentTo"}
xref: MEDGEN:209307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8960 {source="NCIT:C8960", source="MONDO:equivalentTo", source="DOID:6244"}
xref: UMLS:C0879606 {source="MEDGEN:209307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003825 {source="DOID:6244", source="MONDO:Redundant", source="NCIT:C8960"} ! kidney oncocytoma
intersection_of: MONDO:0003825 ! kidney oncocytoma
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0003825
name: kidney oncocytoma
def: "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions." [NCIT:C4526]
synonym: "kidney oncocytic neoplasm" EXACT [MONDO:patterns/location]
synonym: "kidney oncocytoma" EXACT [NCIT:C4526]
synonym: "oncocytoma kidney" RELATED [GARD:0008477]
synonym: "oncocytoma of kidney" EXACT [NCIT:C4526]
synonym: "oncocytoma of the kidney" EXACT [NCIT:C4526]
synonym: "oncocytoma renal" RELATED [GARD:0008477]
synonym: "renal epithelial oncocytic neoplasm" EXACT [NCIT:C4526]
synonym: "renal epithelial oncocytic tumor" EXACT [DOID:6245, NCIT:C4526]
synonym: "renal epithelial oncocytic tumour" EXACT OMO:0003005 []
synonym: "renal oncocytoma" EXACT [NCIT:C4526]
synonym: "ROCY" RELATED ABBREVIATION [ONCOTREE:ROCY]
xref: DOID:6245 {source="MONDO:equivalentTo"}
xref: MEDGEN:91094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537750 {source="DOID:6245", source="MONDO:equivalentTo"}
xref: NCIT:C4526 {source="DOID:6245", source="MONDO:equivalentTo"}
xref: ONCOTREE:ROCY {source="MONDO:equivalentTo"}
xref: SCTID:254922006 {source="DOID:6245", source="MONDO:equivalentTo"}
xref: UMLS:C0346255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91094"}
is_a: MONDO:0002513 {source="DOID:6245", source="NCIT:C4526"} ! kidney benign neoplasm
is_a: MONDO:0010795 {source="MONDO:Redundant", source="NCIT:C4526"} ! oncocytic neoplasm
intersection_of: MONDO:0010795 ! oncocytic neoplasm
intersection_of: disease_has_location UBERON:0002113 ! kidney
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma" xsd:anyURI {source="GARD:0008477"}

[Term]
id: MONDO:0003826
name: mediastinum seminoma
def: "An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors." [NCIT:C6812]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinal seminoma" EXACT [NCIT:C6812]
synonym: "mediastinum seminoma" EXACT [MONDO:patterns/location]
synonym: "seminoma of mediastinum" EXACT [DOID:6249, NCIT:C6812]
synonym: "seminoma of the mediastinum" EXACT [NCIT:C6812]
xref: DOID:6249 {source="MONDO:equivalentTo"}
xref: MEDGEN:277355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6812 {source="DOID:6249", source="MONDO:equivalentTo"}
xref: UMLS:C1334680 {source="MONDO:equivalentTo", source="MEDGEN:277355", source="MONDO:MEDGEN"}
is_a: MONDO:0003001 {source="DOID:6249", source="MONDO:Entailed", source="NCIT:C6812/inferred"} ! seminoma
is_a: MONDO:0003668 {source="NCIT:C6812"} ! extragonadal seminoma
is_a: MONDO:0006298 {source="MONDO:Redundant", source="NCIT:C6812"} ! mediastinal malignant germ cell tumor
intersection_of: MONDO:0003001 ! seminoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0003827
name: transient hypogammaglobulinemia
def: "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:625 {source="MONDO:equivalentTo"}
xref: MEDGEN:167815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27319 {source="DOID:625", source="MONDO:equivalentTo"}
xref: UMLS:C0859960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167815"}
is_a: MONDO:0015977 {source="DOID:625", source="MONDO:Redundant", source="MONDO:indirect"} ! agammaglobulinemia
is_a: MONDO:0016463 {source="NCIT:C27319"} ! syndromic agammaglobulinemia
relationship: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0003828
name: growth hormone-producing pituitary gland carcinoma
def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly." [NCIT:C5963]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Growth hormone producing pituitary gland carcinoma" EXACT [NCIT:C5963]
synonym: "Growth hormone-producing pituitary gland carcinoma" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing neoplasm of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary gland tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant Growth hormone producing pituitary neoplasm" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant Growth hormone producing tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone producing tumour" EXACT OMO:0003005 []
synonym: "malignant Growth hormone producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant Growth hormone producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant Growth hormone producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant Growth hormone producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant Growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary gland tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant Growth hormone secreting pituitary neoplasm" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary tumor" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant Growth hormone secreting tumor of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting tumor of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Growth hormone secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant Growth hormone secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant Growth hormone secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant Growth hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant pituitary gland Somatotrophinoma" EXACT [NCIT:C5963]
synonym: "malignant pituitary gland somatotropinoma" EXACT [NCIT:C5963]
synonym: "malignant pituitary Somatotrophinoma" EXACT [NCIT:C5963]
synonym: "malignant pituitary somatotropinoma" EXACT [NCIT:C5963]
synonym: "malignant Somatotrophinoma of pituitary" EXACT [NCIT:C5963]
synonym: "malignant Somatotrophinoma of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant Somatotrophinoma of the pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant somatotropinoma" EXACT [DOID:6256, NCIT:C5963]
synonym: "malignant somatotropinoma of pituitary" EXACT [NCIT:C5963]
synonym: "malignant somatotropinoma of pituitary gland" EXACT [NCIT:C5963]
synonym: "malignant somatotropinoma of the pituitary" EXACT [NCIT:C5963]
synonym: "malignant somatotropinoma of the pituitary gland" EXACT [NCIT:C5963]
xref: DOID:6256 {source="MONDO:equivalentTo"}
xref: MEDGEN:277331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5963 {source="DOID:6256", source="MONDO:equivalentTo"}
xref: UMLS:C1334587 {source="MEDGEN:277331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019927 {source="MONDO:Redundant", source="NCIT:C5963"} ! growth hormone-producing pituitary gland neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
intersection_of: realized_in GO:0030252 ! growth hormone secretion
relationship: excluded_subClassOf MONDO:0003604 {source="DOID:6256", source="https://orcid.org/0000-0001-5208-3432"} ! functioning pituitary gland neoplasm

[Term]
id: MONDO:0003829
name: chromophil adenoma of the kidney
def: "A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei." [NCIT:P378]
synonym: "chromophil adenoma of the kidney" EXACT [NCIT:C3687]
synonym: "papillary adenoma of the kidney" EXACT [DOID:6257, NCIT:C3687]
synonym: "renal papillary adenoma" EXACT [NCIT:C3687]
xref: DOID:6257 {source="MONDO:equivalentTo"}
xref: MEDGEN:309551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3687 {source="DOID:6257", source="MONDO:equivalentTo"}
xref: UMLS:C1518879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309551"}
is_a: MONDO:0002395 {source="DOID:6257", source="NCIT:C3687"} ! renal adenoma
is_a: MONDO:0002533 {source="NCIT:C3687"} ! papillary adenoma

[Term]
id: MONDO:0003830
name: type 1 papillary adenoma of the kidney
synonym: "type 1 papillary adenoma of the kidney" EXACT [NCIT:C39809]
synonym: "type 1 renal papillary adenoma" EXACT [NCIT:C39809]
xref: DOID:6258 {source="MONDO:equivalentTo"}
xref: MEDGEN:276906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39809 {source="DOID:6258", source="MONDO:equivalentTo"}
xref: UMLS:C1519706 {source="MEDGEN:276906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003829 {source="DOID:6258", source="NCIT:C39809"} ! chromophil adenoma of the kidney

[Term]
id: MONDO:0003831
name: type 2 papillary adenoma of the kidney
synonym: "type 2 papillary adenoma of the kidney" EXACT [NCIT:C39810]
synonym: "type 2 renal papillary adenoma" EXACT [NCIT:C39810]
xref: DOID:6259 {source="MONDO:equivalentTo"}
xref: MEDGEN:311387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39810 {source="DOID:6259", source="MONDO:equivalentTo"}
xref: UMLS:C1519710 {source="MEDGEN:311387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003829 {source="DOID:6259", source="NCIT:C39810"} ! chromophil adenoma of the kidney

[Term]
id: MONDO:0003832
name: complement deficiency
def: "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." [MONDO:nv, PMID:16026838, PMID:20930072]
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:459345"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complement activation disease" EXACT [MONDO:design_pattern]
synonym: "complement deficiency" EXACT [DOID:626, NCIT:C4691]
synonym: "complement deficiency disease" EXACT [DOID:626]
synonym: "disorder of complement activation" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "immunodeficiency due to a complement cascade component deficiency" EXACT [MONDO:0018726]
xref: DOID:626 {source="MONDO:equivalentTo"}
xref: ICD10CM:D80-D89 {source="DOID:626"}
xref: ICD10CM:D84.1 {source="DOID:626"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200364 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200776 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4691 {source="DOID:626", source="MONDO:equivalentTo"}
xref: Orphanet:459345 {source="MONDO:equivalentTo"}
xref: SCTID:191014008 {source="DOID:626"}
xref: SCTID:24743004 {source="DOID:626", source="MONDO:equivalentTo"}
xref: UMLS:C0272242 {source="MONDO:equivalentTo", source="MEDGEN:82898", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DOID:626", source="MONDO:indirect"} ! inborn error of immunity
is_a: MONDO:0021094 {source="NCIT:C4691"} ! immunodeficiency disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006956 ! complement activation
relationship: disease_has_basis_in_disruption_of GO:0006956 ! complement activation

[Term]
id: MONDO:0003833
name: obsolete severe combined immunodeficiency
synonym: "obsolete severe combined immunodeficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete severe combined immunodeficiency (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0015974

[Term]
id: MONDO:0003834
name: gastric cardia carcinoma
def: "A carcinoma that arises from epithelial cells of the cardia of stomach." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of gastric cardia" EXACT [NCIT:C6794]
synonym: "cancer of the gastric cardia" EXACT [NCIT:C6794]
synonym: "carcinoma of cardia of stomach" EXACT [DOID:6270, MONDO:patterns/carcinoma, NCIT:C6794]
synonym: "carcinoma of gastric cardia" EXACT [NCIT:C6794]
synonym: "carcinoma of the cardia of the stomach" EXACT [NCIT:C6794]
synonym: "carcinoma of the gastric cardia" EXACT [NCIT:C6794]
synonym: "cardia of stomach carcinoma" EXACT [MONDO:patterns/location]
synonym: "gastric cardia (stomach) cancer" EXACT [NCIT:C6794]
synonym: "gastric cardia cancer" EXACT [NCIT:C6794]
xref: DOID:6270 {source="MONDO:equivalentTo"}
xref: EFO:1001252 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6794 {source="MONDO:equivalentTo", source="DOID:6270"}
xref: UMLS:C1333763 {source="MEDGEN:234295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001063 {source="DOID:6270", source="MONDO:Redundant"} ! cardia cancer
is_a: MONDO:0004950 {source="DOID:6270", source="EFO:1001252", source="MONDO:Redundant", source="NCIT:C6794"} ! gastric carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001162 ! cardia of stomach

[Term]
id: MONDO:0003835
name: gastric cardia adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the cardia of stomach." [https://orcid.org/0000-0002-6601-2165]
synonym: "adenocarcinoma of cardia of stomach" EXACT [DOID:6271, NCIT:C5247]
synonym: "adenocarcinoma of gastric cardia" RELATED [DOID:6271]
synonym: "adenocarcinoma of the cardia of the stomach" EXACT [NCIT:C5247]
synonym: "adenocarcinoma of the gastric cardia" EXACT [NCIT:C5247]
synonym: "cardia of stomach adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6271 {source="MONDO:equivalentTo"}
xref: MEDGEN:232543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5247 {source="MONDO:equivalentTo", source="DOID:6271"}
xref: UMLS:C1333762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232543"}
is_a: MONDO:0003834 {source="DOID:6271", source="MONDO:Redundant", source="NCIT:C5247"} ! gastric cardia carcinoma
is_a: MONDO:0005036 {source="DOID:6271", source="MONDO:Redundant", source="NCIT:C5247/inferred"} ! gastric adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001162 ! cardia of stomach

[Term]
id: MONDO:0003836
name: malignant thyroid stimulating hormone producing neoplasm of pituitary gland
def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant pituitary gland thyrotropinoma" EXACT [NCIT:C5965]
synonym: "malignant pituitary thyrotropinoma" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing neoplasm of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing neoplasm of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary gland tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone producing pituitary neoplasm" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone producing tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone producing tumour" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary gland tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone secreting pituitary neoplasm" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary tumor" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone secreting tumor of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting tumor of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyroid stimulating hormone secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant thyroid stimulating hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant thyrotropinoma" EXACT [DOID:6274, NCIT:C5965]
synonym: "malignant thyrotropinoma of pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyrotropinoma of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant thyrotropinoma of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant thyrotropinoma of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing neoplasm of pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH producing neoplasm of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing neoplasm of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH producing neoplasm of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary gland neoplasm" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary gland tumor" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant TSH producing pituitary neoplasm" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary tumor" EXACT [NCIT:C5965]
synonym: "malignant TSH producing pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant TSH producing tumor of pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH producing tumor of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing tumor of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH producing tumor of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant TSH producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant TSH producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant TSH producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant TSH secreting neoplasm of pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting neoplasm of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting neoplasm of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting neoplasm of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary gland neoplasm" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary gland tumor" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant TSH secreting pituitary neoplasm" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary tumor" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant TSH secreting tumor of pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting tumor of pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting tumor of the pituitary" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting tumor of the pituitary gland" EXACT [NCIT:C5965]
synonym: "malignant TSH secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant TSH secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant TSH secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant TSH secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "thyrotropin producing pituitary gland carcinoma" EXACT [NCIT:C5965]
synonym: "TSH producing pituitary gland carcinoma" EXACT [NCIT:C5965]
synonym: "TSH-producing pituitary gland carcinoma" EXACT [NCIT:C5965]
xref: DOID:6274 {source="MONDO:equivalentTo"}
xref: MEDGEN:277341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5965 {source="MONDO:equivalentTo", source="DOID:6274"}
xref: UMLS:C1334627 {source="MEDGEN:277341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003604 {source="DOID:6274", source="MONDO:Redundant", source="MONDO:indirect"} ! functioning pituitary gland neoplasm
is_a: MONDO:0003837 {source="NCIT:C5965"} ! TSH producing pituitary tumor

[Term]
id: MONDO:0003837
name: TSH producing pituitary tumor
def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin." [NCIT:C7915]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "thyroid stimulating hormone producing neoplasm of pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing neoplasm of the pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone producing pituitary neoplasm" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing pituitary tumour" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone producing tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumor of pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumor of pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumor of the pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone producing tumour" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone secreting pituitary neoplasm" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary tumor" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone secreting tumor of pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting tumor of the pituitary" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7915]
synonym: "thyroid stimulating hormone secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "thyroid stimulating hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "thyrotroph adenoma" NARROW []
synonym: "thyrotropin producing pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "thyrotropin-secreting pituitary adenoma" RELATED []
synonym: "TSH producing neoplasm of pituitary" EXACT [NCIT:C7915]
synonym: "TSH producing neoplasm of pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH producing neoplasm of the pituitary" EXACT [NCIT:C7915]
synonym: "TSH producing neoplasm of the pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH producing pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "TSH producing pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "TSH producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "TSH producing pituitary neoplasm" EXACT [NCIT:C7915]
synonym: "TSH producing pituitary tumor" EXACT [NCIT:C7915]
synonym: "TSH producing tumor of pituitary" EXACT [NCIT:C7915]
synonym: "TSH producing tumor of pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH producing tumor of the pituitary" EXACT [NCIT:C7915]
synonym: "TSH producing tumor of the pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "TSH producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "TSH producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "TSH producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "TSH secreting adenoma of the pituitary" NARROW [DOID:6275, NCIT:C8011]
synonym: "TSH secreting neoplasm of pituitary" EXACT [NCIT:C7915]
synonym: "TSH secreting neoplasm of pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH secreting neoplasm of the pituitary" EXACT [NCIT:C7915]
synonym: "TSH secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "TSH secreting pituitary neoplasm" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary tumor" EXACT [NCIT:C7915]
synonym: "TSH secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "TSH secreting tumor of pituitary" EXACT [DOID:6275, NCIT:C7915]
synonym: "TSH secreting tumor of pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH secreting tumor of the pituitary" EXACT [NCIT:C7915]
synonym: "TSH secreting tumor of the pituitary gland" EXACT [NCIT:C7915]
synonym: "TSH secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "TSH secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "TSH secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "TSH secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "TSH-oma" RELATED []
synonym: "TSH-producing pituitary gland neoplasm" EXACT [NCIT:C7915]
synonym: "TSH-producing pituitary gland tumor" EXACT [NCIT:C7915]
synonym: "TSH-producing pituitary gland tumour" EXACT OMO:0003005 []
xref: DOID:6275 {source="MONDO:equivalentTo"}
xref: MEDGEN:391700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7915 {source="MONDO:equivalentTo"}
xref: NCIT:C8011 {source="DOID:6275"}
xref: SCTID:254959007 {source="MONDO:equivalentTo", source="DOID:6275"}
xref: UMLS:C2362538 {source="MEDGEN:391700", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003429 {source="DOID:6275"} ! functioning pituitary gland adenoma
is_a: MONDO:0006373 {source="DOID:6275/inferred", source="MONDO:0003837/inferred"} ! pituitary gland adenoma

[Term]
id: MONDO:0003838
name: obsolete malignant ACTH producing neoplasm of pituitary gland
is_obsolete: true
replaced_by: MONDO:0006069

[Term]
id: MONDO:0003839
name: ovarian mucinous adenocarcinofibroma
def: "A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material." [NCIT:C40034]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian mucinous adenocarcinofibroma" EXACT [DOID:6278, NCIT:C40034]
synonym: "ovarian mucinous malignant adenofibroma" EXACT [NCIT:C40034]
xref: DOID:6278 {source="MONDO:equivalentTo"}
xref: ICDO:9015/3 {source="NCIT:C40034"}
xref: MEDGEN:384497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40034 {source="DOID:6278", source="MONDO:equivalentTo"}
xref: UMLS:C2212014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384497"}
is_a: MONDO:0002991 {source="DOID:6278", source="MONDO:Redundant", source="NCIT:C40034"} ! adenocarcinofibroma
is_a: MONDO:0003756 {source="DOID:6278", source="MONDO:Redundant", source="NCIT:C40034/inferred"} ! ovarian mucinous neoplasm
is_a: MONDO:0024282 {source="MONDO:Redundant", source="NCIT:C40034"} ! mucinous ovarian cancer
intersection_of: MONDO:0002991 {source="NCIT:C40034"} ! adenocarcinofibroma
intersection_of: MONDO:0024282 {source="NCIT:C40034"} ! mucinous ovarian cancer

[Term]
id: MONDO:0003840
name: epicardium lipoma
def: "A rare benign adipose tissue neoplasm of the epicardium of the heart." [NCIT:P378]
synonym: "epicardial lipoma" EXACT [NCIT:C6742]
synonym: "epicardium lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of epicardium" EXACT [DOID:6284, NCIT:C6742]
synonym: "lipoma of the epicardium" EXACT [NCIT:C6742]
xref: DOID:6284 {source="MONDO:equivalentTo"}
xref: MEDGEN:234221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6742 {source="MONDO:equivalentTo", source="DOID:6284"}
xref: UMLS:C1333411 {source="MEDGEN:234221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003841 {source="DOID:6284", source="MONDO:Redundant", source="NCIT:C6742"} ! heart lipoma
is_a: MONDO:0021508 {source="MONDO:Redundant", source="NCIT:C6742"} ! benign neoplasm of epicardium
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0002348 ! epicardium

[Term]
id: MONDO:0003841
name: heart lipoma
def: "A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue." [NCIT:P378]
synonym: "Cardiac lipoma" EXACT [NCIT:C6741]
synonym: "heart lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of heart" EXACT [DOID:6285, NCIT:C6741]
synonym: "lipoma of the heart" EXACT [NCIT:C6741]
xref: DOID:6285 {source="MONDO:equivalentTo"}
xref: MEDGEN:272436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6741 {source="MONDO:equivalentTo", source="DOID:6285"}
xref: UMLS:C1332849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272436"}
is_a: MONDO:0000629 {source="DOID:6285", source="MONDO:Redundant", source="MONDO:indirect"} ! cardiovascular organ benign neoplasm
is_a: MONDO:0005106 {source="DOID:6285", source="MONDO:Redundant", source="NCIT:C6741"} ! lipoma
is_a: MONDO:0005267 {source="DOID:6285", source="MONDO:Redundant", source="NCIT:C6741/inferred"} ! heart disorder
is_a: MONDO:0021450 {source="MONDO:Redundant", source="NCIT:C6741"} ! benign neoplasm of heart
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0003842
name: childhood cerebellar astrocytic neoplasm
def: "Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cerebellar astrocytoma" BROAD [NCIT:C6286]
synonym: "cerebellar astrocytoma, childhood" RELATED [GARD:0009301]
synonym: "cerebellum childhood astrocytic tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "cerebellum childhood astrocytic tumour" EXACT OMO:0003005 []
synonym: "cerebellum juvenile astrocytoma" EXACT [MONDO:patterns/location]
synonym: "childhood astrocytic tumor of cerebellum" EXACT [MONDO:design_pattern]
synonym: "childhood astrocytic tumour of cerebellum" EXACT OMO:0003005 []
synonym: "childhood astrocytoma of cerebellum" EXACT [NCIT:C6286]
synonym: "childhood astrocytoma of the cerebellum" EXACT [NCIT:C6286]
synonym: "childhood cerebellar astrocytoma" EXACT [NCIT:C6286]
synonym: "paediatric astrocytoma of cerebellum" EXACT OMO:0003005 []
synonym: "paediatric astrocytoma of the cerebellum" EXACT OMO:0003005 []
synonym: "paediatric cerebellar astrocytoma" EXACT OMO:0003005 []
synonym: "pediatric astrocytoma of cerebellum" EXACT [DOID:6286, NCIT:C6286]
synonym: "pediatric astrocytoma of the cerebellum" EXACT [NCIT:C6286]
synonym: "pediatric cerebellar astrocytoma" EXACT [NCIT:C6286]
xref: DOID:6286 {source="MONDO:equivalentTo"}
xref: MEDGEN:124480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6286 {source="MONDO:equivalentTo", source="DOID:6286"}
xref: UMLS:C0278594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124480"}
is_a: MONDO:0002505 {source="DOID:6286", source="MONDO:Redundant", source="NCIT:C6286/inferred"} ! childhood astrocytic tumor
is_a: MONDO:0003165 {source="DOID:6286", source="MONDO:Entailed", source="NCIT:C6286"} ! cerebellar astrocytoma
is_a: MONDO:0003263 {source="NCIT:C6286"} ! childhood cerebellar neoplasm
intersection_of: MONDO:0002505 ! childhood astrocytic tumor
intersection_of: disease_has_location UBERON:0002037 ! cerebellum

[Term]
id: MONDO:0003843
name: cerebral hemisphere lipoma
def: "A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum." [NCIT:C6220]
synonym: "cerebral hemisphere lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of cerebral hemisphere" EXACT [NCIT:C6220]
synonym: "lipoma of the cerebral hemisphere" EXACT [DOID:6291, NCIT:C6220]
xref: DOID:6291 {source="MONDO:equivalentTo"}
xref: MEDGEN:234111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6220 {source="DOID:6291", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332907 {source="MEDGEN:234111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003844 {source="DOID:6291", source="MONDO:Redundant", source="NCIT:C6220/inferred"} ! central nervous system lipoma
is_a: MONDO:0021497 {source="MONDO:Redundant", source="NCIT:C6220"} ! benign neoplasm of cerebrum
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0001869 ! cerebral hemisphere

[Term]
id: MONDO:0003844
name: central nervous system lipoma
def: "A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels." [NCIT:C5451]
synonym: "central nervous system lipoma" EXACT [MONDO:patterns/location, NCIT:C5451]
synonym: "CNS lipoma" EXACT [NCIT:C5451]
synonym: "lipoma of central nervous system" EXACT [NCIT:C5451]
synonym: "lipoma of CNS" EXACT [NCIT:C5451]
synonym: "lipoma of the central nervous system" EXACT [NCIT:C5451]
synonym: "lipoma of the CNS" EXACT [DOID:6293, NCIT:C5451]
xref: DOID:6293 {source="MONDO:equivalentTo"}
xref: MEDGEN:272443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5451 {source="MONDO:equivalentTo", source="DOID:6293", source="MONDO:exact-label-match"}
xref: UMLS:C1332885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272443"}
is_a: MONDO:0000628 {source="DOID:6293", source="MONDO:Entailed", source="MONDO:Redundant"} ! central nervous system organ benign neoplasm
is_a: MONDO:0005106 {source="DOID:6293", source="MONDO:Redundant", source="NCIT:C5451"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003845
name: corpus callosum lipoma
def: "A rare benign adipose tissue neoplasm of the corpus callosum." [NCIT:P378]
synonym: "corpus callosum lipoma" EXACT [MONDO:patterns/location]
synonym: "lipoma of corpus callosum" EXACT [NCIT:C5438]
synonym: "lipoma of the corpus callosum" EXACT [DOID:6294, NCIT:C5438]
xref: DOID:6294 {source="MONDO:equivalentTo"}
xref: MEDGEN:272510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5438 {source="MONDO:equivalentTo", source="DOID:6294"}
xref: UMLS:C1333160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272510"}
is_a: MONDO:0003843 {source="DOID:6294", source="MONDO:Redundant", source="NCIT:C5438"} ! cerebral hemisphere lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0002336 ! corpus callosum

[Term]
id: MONDO:0003846
name: viral esophagitis
def: "Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning." [NCIT:C27108]
synonym: "viral esophagitis" EXACT [NCIT:C27108]
synonym: "Viruses caused esophagitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses esophagitis (disease)" EXACT []
xref: DOID:6297 {source="MONDO:equivalentTo"}
xref: MEDGEN:87414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27108 {source="MONDO:equivalentTo", source="NCIT:C27108", source="DOID:6297"}
xref: SCTID:235603003 {source="MONDO:equivalentTo", source="DOID:6297"}
xref: UMLS:C0341110 {source="MEDGEN:87414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001409 {source="DOID:6297", source="MONDO:Redundant", source="NCIT:C27108"} ! esophagitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
intersection_of: disease_has_inflammation_site UBERON:0001043 ! esophagus

[Term]
id: MONDO:0003847
name: hereditary disease
def: "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." [https://orcid.org/0000-0002-6601-2165]
comment: Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish.
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "familial disorder" RELATED []
synonym: "genetic condition" BROAD [NCIT:C3101]
synonym: "genetic disease" BROAD []
synonym: "genetic disorder" BROAD [NCIT:C3101]
synonym: "hereditary disease" EXACT [MONDO:patterns/hereditary, NCIT:C3101]
synonym: "hereditary disease or disorder" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary diseases" EXACT [NCIT:C3101]
synonym: "inborn disorder" RELATED []
synonym: "inherited disease" EXACT [NCIT:C3101]
synonym: "inherited genetic disease" EXACT [https://github.com/monarch-initiative/mondo/issues/1758]
synonym: "Mendelian disease" NARROW [DOID:0050177]
synonym: "molecular disease" EXACT [NCIT:C3101]
xref: DOID:630 {source="MONDO:equivalentTo"}
xref: EFO:0000508 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D030342 {source="EFO:0000508", source="MONDO:equivalentTo", source="DOID:630"}
xref: NCIT:C3101 {source="EFO:0000508", source="MONDO:equivalentTo", source="DOID:630"}
xref: SCTID:264530000 {source="DOID:630"}
xref: SCTID:32895009 {source="MONDO:equivalentTo", source="DOID:630"}
xref: UMLS:C0019247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5527"}
is_a: MONDO:0000001 {source="DOID:630", source="EFO:0000508", source="MONDO:Redundant", source="NCIT:C3101"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0003848
name: ectopic thymus
def: "A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution." [NCIT:C27804]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ectopic thymus" EXACT [NCIT:C27804]
xref: DOID:6307 {source="MONDO:equivalentTo"}
xref: MEDGEN:232148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27804 {source="DOID:6307", source="MONDO:equivalentTo"}
xref: UMLS:C1333375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232148"}
is_a: MONDO:0003393 {source="DOID:6307", source="NCIT:C27804/inferred"} ! thymus gland disorder

[Term]
id: MONDO:0003849
name: clivus chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chordoma (disease) of clivus of occipital bone" EXACT []
synonym: "chordoma of clivus" EXACT [DOID:6312, NCIT:C5412]
synonym: "chordoma of the clivus" EXACT [NCIT:C5412]
synonym: "clival chordoma" EXACT [NCIT:C5412]
synonym: "clivus of occipital bone chordoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6312 {source="MONDO:equivalentTo"}
xref: ICD9:170.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:232372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5412 {source="DOID:6312", source="MONDO:equivalentTo"}
xref: SCTID:446939001 {source="DOID:6312", source="MONDO:equivalentTo"}
xref: UMLS:C1333071 {source="MEDGEN:232372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002892 {source="DOID:6312", source="NCIT:C5412"} ! skull base chordoma
intersection_of: MONDO:0008978 ! chordoma
intersection_of: disease_has_location UBERON:0004108 ! clivus of occipital bone

[Term]
id: MONDO:0003850
name: clivus chondroid chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chondroid chordoma of clivus" EXACT [NCIT:C5426]
synonym: "chondroid chordoma of clivus of occipital bone" EXACT [MONDO:design_pattern]
synonym: "chondroid chordoma of the clivus" EXACT [DOID:6313, NCIT:C5426]
synonym: "clivus of occipital bone chondroid chordoma" EXACT [MONDO:patterns/location]
xref: DOID:6313 {source="MONDO:equivalentTo"}
xref: MEDGEN:232373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5426 {source="DOID:6313", source="MONDO:equivalentTo"}
xref: UMLS:C1333072 {source="MEDGEN:232373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003849 {source="DOID:6313", source="MONDO:Redundant", source="NCIT:C5426"} ! clivus chordoma
is_a: MONDO:0006145 {source="DOID:6313", source="MONDO:Redundant", source="NCIT:C5426"} ! chondroid chordoma
intersection_of: MONDO:0006145 ! chondroid chordoma
intersection_of: disease_has_location UBERON:0004108 ! clivus of occipital bone

[Term]
id: MONDO:0003851
name: ovarian fetiform teratoma
def: "A rare type of teratoma that arises from the ovary and resembles a malformed fetus." [NCIT:C39996]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "homunculus" EXACT [NCIT:C39996]
synonym: "ovarian fetiform teratoma" EXACT [NCIT:C39996]
xref: DOID:6314 {source="MONDO:equivalentTo"}
xref: MEDGEN:276666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39996 {source="DOID:6314", source="MONDO:equivalentTo"}
xref: UMLS:C1518715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276666"}
is_a: MONDO:0003820 {source="DOID:6314", source="NCIT:C39996"} ! mature ovarian teratoma

[Term]
id: MONDO:0003852
name: ovarian solid teratoma
def: "A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:6315 {source="MONDO:equivalentTo"}
xref: MEDGEN:233810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7285 {source="DOID:6315", source="MONDO:equivalentTo"}
xref: UMLS:C1335181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233810"}
is_a: MONDO:0003820 {source="DOID:6315", source="NCIT:C7285"} ! mature ovarian teratoma

[Term]
id: MONDO:0003853
name: Bartholin gland adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the major vestibular gland." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenocarcinoma of Bartholin's gland" RELATED [DOID:6316]
synonym: "adenocarcinoma of the Bartholin's gland" EXACT [DOID:6316, NCIT:C7719]
synonym: "Bartholin gland adenocarcinoma" EXACT [DOID:6316]
synonym: "major vestibular gland adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6316 {source="MONDO:equivalentTo"}
xref: MEDGEN:116035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7719 {source="DOID:6316", source="MONDO:equivalentTo"}
xref: UMLS:C0238016 {source="MEDGEN:116035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002829 {source="DOID:6316", source="MONDO:Redundant", source="NCIT:C7719"} ! bartholin gland carcinoma
is_a: MONDO:0024336 {source="DOID:6316", source="MONDO:Redundant", source="NCIT:C7719"} ! vulvar adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0003854
name: obsolete tibial adamantinoma
is_obsolete: true
replaced_by: MONDO:0006469

[Term]
id: MONDO:0003855
name: obsolete immature teratoma of ovary
is_obsolete: true
replaced_by: MONDO:0018369

[Term]
id: MONDO:0003856
name: adult malignant hemangiopericytoma
def: "A malignant hemangiopericytoma occurring in the adult population." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult hemangiopericytoma, malignant" EXACT [MONDO:design_pattern]
synonym: "hemangiopericytoma, malignant of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "malignant adult hemangiopericytoma" EXACT [NCIT:C7946]
xref: DOID:6332 {source="MONDO:equivalentTo"}
xref: MEDGEN:83522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7946 {source="MONDO:equivalentTo", source="DOID:6332"}
xref: UMLS:C0279547 {source="MEDGEN:83522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005094 {source="DOID:6332", source="MONDO:Redundant", source="NCIT:C7946/inferred"} ! hemangiopericytoma
is_a: MONDO:0009330 {source="MONDO:Redundant", source="NCIT:C7946"} ! hemangiopericytoma, malignant
intersection_of: MONDO:0009330 ! hemangiopericytoma, malignant
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003857
name: adult intracranial malignant hemangiopericytoma
def: "A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
synonym: "adult intracranial anaplastic hemangiopericytoma" EXACT [NCIT:C9183]
synonym: "adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3" EXACT [NCIT:C9183]
synonym: "adult malignant intracranial hemangiopericytoma" EXACT [DOID:6333, NCIT:C9183]
synonym: "central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3" EXACT [NCIT:C9183]
synonym: "malignant adult intracranial hemangiopericytoma" EXACT [NCIT:C9183]
xref: DOID:6333 {source="MONDO:equivalentTo"}
xref: MEDGEN:235288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9183 {source="DOID:6333", source="MONDO:equivalentTo"}
xref: UMLS:C1334558 {source="MEDGEN:235288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005094 {source="https://orcid.org/0000-0001-5208-3432"} ! hemangiopericytoma
is_a: MONDO:0037740 {source="NCIT:C129527", source="NCIT:C9183/inferred"} ! malignant central nervous system mesenchymal, non-meningothelial neoplasm
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:6333", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete connective tissue cancer

[Term]
id: MONDO:0003858
name: anterior optic tract meningioma
def: "A meningioma that affects the anterior visual pathway." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anterior visual pathway meningioma" EXACT [NCIT:C7538]
xref: DOID:6334 {source="MONDO:equivalentTo"}
xref: MEDGEN:231382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7538 {source="DOID:6334", source="MONDO:equivalentTo"}
xref: UMLS:C1332308 {source="MEDGEN:231382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024648 {source="NCIT:C7538"} ! optic tract meningioma
relationship: excluded_subClassOf MONDO:0002640 {source="DOID:6334", source="https://orcid.org/0000-0001-5208-3432"} ! optic nerve neoplasm

[Term]
id: MONDO:0003859
name: bilateral meningioma of optic nerve
def: "Meningiomas that affects both optic nerves." [NCIT:C5304]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bilateral meningioma of the optic nerve" EXACT [DOID:6335, NCIT:C5304]
synonym: "bilateral optic nerve meningioma" EXACT [NCIT:C5304]
xref: DOID:6335 {source="MONDO:equivalentTo"}
xref: MEDGEN:231442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5304 {source="DOID:6335", source="MONDO:equivalentTo"}
xref: UMLS:C1332551 {source="MEDGEN:231442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002640 {source="DOID:6335", source="NCIT:C5304"} ! optic nerve neoplasm
is_a: MONDO:0024648 {source="NCIT:C5304"} ! optic tract meningioma

[Term]
id: MONDO:0003860
name: cerebellopontine angle meningioma
def: "A meningioma that affects the cerebellopontine angle." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "C-P angle meningioma" EXACT [NCIT:C5300]
synonym: "cerebellar Pontine angle meningioma" EXACT [NCIT:C5300]
synonym: "cerebellopontine angle meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of cerebellopontine angle" EXACT []
synonym: "meningioma of C-P angle" EXACT [NCIT:C5300]
synonym: "meningioma of cerebellar Pontine angle" EXACT [NCIT:C5300]
synonym: "meningioma of cerebellopontine angle" EXACT [NCIT:C5300]
synonym: "meningioma of the C-P angle" EXACT [NCIT:C5300]
synonym: "meningioma of the cerebellar Pontine angle" EXACT [DOID:6337, NCIT:C5300]
synonym: "meningioma of the cerebellopontine angle" EXACT [NCIT:C5300]
xref: DOID:6337 {source="MONDO:equivalentTo"}
xref: MEDGEN:220388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5300 {source="DOID:6337", source="MONDO:equivalentTo"}
xref: SCTID:126948004 {source="DOID:6337", source="MONDO:equivalentTo"}
xref: UMLS:C1263882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220388"}
is_a: MONDO:0002553 {source="DOID:6337", source="MONDO:Redundant", source="NCIT:C5300"} ! cerebellopontine angle tumor
is_a: MONDO:0850302 {source="DOID:6337", source="MONDO:Entailed", source="MONDO:Redundant"} ! intracranial meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0014908 ! cerebellopontine angle

[Term]
id: MONDO:0003861
name: vulvar eccrine adenocarcinoma
def: "An eccrine adenocarcinoma that arises from the sweat glands in the vulva." [NCIT:C40305]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "eccrine carcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva eccrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar eccrine adenocarcinoma" EXACT [NCIT:C40305]
xref: DOID:6339 {source="MONDO:equivalentTo"}
xref: MEDGEN:384495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40305 {source="MONDO:equivalentTo", source="DOID:6339", source="MONDO:exact-label-match"}
xref: UMLS:C2202743 {source="MONDO:equivalentTo", source="MEDGEN:384495", source="MONDO:MEDGEN"}
is_a: MONDO:0024240 {source="MONDO:Redundant", source="NCIT:C40305"} ! eccrine carcinoma
is_a: MONDO:0024336 {source="DOID:6339", source="MONDO:Redundant", source="NCIT:C40305/inferred"} ! vulvar adenocarcinoma
intersection_of: MONDO:0024240 ! eccrine carcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0003862
name: melanotic psammomatous malignant peripheral nerve sheath tumor
def: "A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "melanocytic psammomatous malignant peripheral nerve sheath tumor" EXACT [NCIT:C6910]
synonym: "melanocytic psammomatous malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "melanocytic psammomatous MPNST" EXACT [NCIT:C6910]
synonym: "melanotic psammomatous malignant peripheral nerve sheath tumor" EXACT [NCIT:C6910]
xref: DOID:6344 {source="MONDO:equivalentTo"}
xref: MEDGEN:730167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6910 {source="DOID:6344", source="MONDO:equivalentTo"}
xref: UMLS:C1321709 {source="MEDGEN:730167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003863 {source="DOID:6344", source="NCIT:C6910"} ! malignant melanocytic neoplasm of the peripheral nerve sheath

[Term]
id: MONDO:0003863
name: malignant melanocytic neoplasm of the peripheral nerve sheath
def: "A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant melanocytic neoplasm of peripheral nerve sheath" EXACT [NCIT:C4748]
synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath" EXACT [NCIT:C4748]
synonym: "malignant melanocytic peripheral nerve sheath tumor" EXACT [NCIT:C4748]
synonym: "malignant melanocytic peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "malignant melanotic peripheral nerve sheath tumor" EXACT [NCIT:C4748]
synonym: "malignant melanotic peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "melanocytic MPNST" EXACT [DOID:6345, NCIT:C4748]
synonym: "melanotic malignant nerve sheath tumor" EXACT [DOID:6345]
synonym: "melanotic malignant nerve sheath tumour" EXACT OMO:0003005 []
synonym: "melanotic malignant peripheral nerve sheath tumor" EXACT [DOID:6345]
synonym: "melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:6345]
synonym: "melanotic malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "melanotic malignant peripheral nerve sheath tumour (morphologic abnormality)" EXACT OMO:0003005 []
xref: DOID:6345 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:99184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4748 {source="DOID:6345", source="MONDO:equivalentTo"}
xref: SCTID:253094006 {source="DOID:6345"}
xref: SCTID:253095007 {source="DOID:6345"}
xref: SCTID:404039004 {source="DOID:6345", source="MONDO:equivalentTo"}
xref: UMLS:C0474847 {source="MONDO:equivalentTo", source="MEDGEN:99184", source="MONDO:MEDGEN"}
is_a: MONDO:0017827 {source="DOID:6345", source="NCIT:C4748"} ! malignant peripheral nerve sheath tumor

[Term]
id: MONDO:0003864
name: chronic lymphocytic leukemia/small lymphocytic lymphoma
def: "An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood." [NCIT:C27911]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [DOID:6354, NCIT:C27911]
synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)" EXACT [DOID:6354]
synonym: "CLL/SLL" EXACT [NCIT:C27911]
xref: DOID:6354 {source="MONDO:equivalentTo"}
xref: ICDO:9823/3 {source="NCIT:C27911"}
xref: MEDGEN:224906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27911 {source="MONDO:equivalentTo", source="DOID:6354"}
xref: NCIT:C7540 {source="ONCOTREE:CLLSLL"}
xref: ONCOTREE:CLLSLL {source="MONDO:equivalentTo"}
xref: SCTID:399607007 {source="DOID:6354"}
xref: UMLS:C1302547 {source="MEDGEN:224906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004948 {source="DOID:6354"} ! B-cell chronic lymphocytic leukemia
is_a: MONDO:0004949 {source="MONDO:Redundant", source="NCIT:C27911", source="ONCOTREE:CLLSLL"} ! neoplasm of mature B-cells

[Term]
id: MONDO:0003865
name: acral lentiginous melanoma
def: "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." [NCIT:C4022]
subset: otar {source="MONDO:OTAR"}
synonym: "acral lentiginous malignant melanoma" EXACT [NCIT:C4022]
synonym: "acral lentiginous malignant melanoma of skin" RELATED [GARD:0009570]
synonym: "acral lentiginous melanoma" EXACT [MONDO:ambiguous]
synonym: "acral lentiginous melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "acral lentiginous melanoma, malignant" EXACT [DOID:6367]
synonym: "acral lentiginous melanoma, malignant (morphologic abnormality)" EXACT [DOID:6367]
synonym: "acral melanoma" RELATED [ONCOTREE:ACRM]
synonym: "ALM" RELATED ABBREVIATION [GARD:0009570]
synonym: "malignant acral lentiginous melanoma" EXACT [DOID:6367]
synonym: "palmar/plantar melanoma" RELATED [GARD:0009570]
synonym: "subungual melanoma" RELATED [GARD:0009570]
xref: DOID:6367 {source="MONDO:equivalentTo"}
xref: HP:0012060 {source="MONDO:otherHierarchy"}
xref: ICDO:8744/3 {source="NCIT:C4022"}
xref: MEDGEN:87530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4022 {source="MONDO:equivalentTo"}
xref: ONCOTREE:ACRM {source="MONDO:equivalentTo"}
xref: SCTID:254732008 {source="MONDO:equivalentTo"}
xref: UMLS:C0346037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87530"}
is_a: MONDO:0005012 {source="DOID:6367", source="NCIT:C4022"} ! cutaneous melanoma
property_value: IAO:0000589 "acral lentiginous melanoma (disease)" xsd:string

[Term]
id: MONDO:0003866
name: liver extraskeletal osteosarcoma
def: "An osteosarcoma arising from the liver." [NCIT:C5833]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hepatic extraskeletal osteosarcoma" EXACT [NCIT:C5833]
synonym: "hepatic osteogenic sarcoma" EXACT [NCIT:C5833]
synonym: "hepatic osteosarcoma" EXACT [NCIT:C5833]
synonym: "liver extraskeletal osteosarcoma" EXACT [NCIT:C5833]
synonym: "liver osteogenic sarcoma" EXACT [NCIT:C5833]
synonym: "liver osteosarcoma" EXACT [NCIT:C5833]
synonym: "liver osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteogenic sarcoma of liver" EXACT [NCIT:C5833]
synonym: "osteogenic sarcoma of the liver" EXACT [NCIT:C5833]
synonym: "osteosarcoma of liver" EXACT [DOID:6370, NCIT:C5833]
synonym: "osteosarcoma of the liver" EXACT [NCIT:C5833]
xref: DOID:6370 {source="MONDO:equivalentTo"}
xref: MEDGEN:232597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5833 {source="MONDO:equivalentTo", source="DOID:6370"}
xref: UMLS:C1333974 {source="MEDGEN:232597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002397 {source="DOID:6370", source="MONDO:Redundant", source="NCIT:C5833"} ! liver sarcoma
is_a: MONDO:0002621 {source="DOID:6370", source="NCIT:C5833"} ! extraosseous osteosarcoma
intersection_of: MONDO:0009807 ! osteosarcoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0003867
name: diffuse meningeal melanocytosis
def: "A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" [NCIT:P378]
synonym: "diffuse melanocytosis" EXACT [NCIT:C6890]
synonym: "diffuse melanocytosis (morphologic abnormality)" EXACT [DOID:6379]
synonym: "diffuse melanosis" EXACT [DOID:6379, NCIT:C6890]
synonym: "meningeal melanocytosis" EXACT [NCIT:C6890]
xref: DOID:6379 {source="MONDO:equivalentTo"}
xref: ICDO:8728/0 {source="NCIT:C6890"}
xref: MEDGEN:226841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6890 {source="DOID:6379", source="MONDO:equivalentTo"}
xref: SCTID:128729004 {source="DOID:6379"}
xref: UMLS:C1266112 {source="MEDGEN:226841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003222 {source="DOID:6379", source="NCIT:C6890/inferred"} ! central nervous system melanocytic neoplasm

[Term]
id: MONDO:0003868
name: anterior foramen magnum meningioma
def: "A meningioma that affects the anterior foramen magnum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma of anterior Foramen magnum" EXACT [NCIT:C5281]
synonym: "meningioma of the anterior Foramen magnum" EXACT [DOID:6381, NCIT:C5281]
xref: DOID:6381 {source="MONDO:equivalentTo"}
xref: MEDGEN:233988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5281 {source="MONDO:equivalentTo", source="DOID:6381"}
xref: UMLS:C1332302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233988"}
is_a: MONDO:0003109 {source="DOID:6381", source="NCIT:C5281"} ! foramen magnum meningioma

[Term]
id: MONDO:0003869
name: childhood brain stem glioma
def: "An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life." [NCIT:C9042]
subset: gard_rare {source="GARD:9306", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain stem glioma" BROAD [NCIT:C9042]
synonym: "brain stem glioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood brain stem glioma" EXACT [NCIT:C9042]
synonym: "childhood brainstem glioma" EXACT [NCIT:C9042]
synonym: "childhood glioma of brain stem" EXACT [NCIT:C9042]
synonym: "childhood glioma of brainstem" EXACT [NCIT:C9042]
synonym: "childhood glioma of the brain stem" EXACT [NCIT:C9042]
synonym: "childhood glioma of the brainstem" EXACT [NCIT:C9042]
synonym: "paediatric brain stem glioma" EXACT OMO:0003005 []
synonym: "paediatric brainstem glioma" EXACT OMO:0003005 []
synonym: "paediatric glioma of brain stem" EXACT OMO:0003005 []
synonym: "paediatric glioma of brainstem" EXACT OMO:0003005 []
synonym: "paediatric glioma of the brain stem" EXACT OMO:0003005 []
synonym: "paediatric glioma of the brainstem" EXACT OMO:0003005 []
synonym: "pediatric brain stem glioma" EXACT [MONDO:patterns/childhood, NCIT:C9042]
synonym: "pediatric brainstem glioma" EXACT [NCIT:C9042]
synonym: "pediatric glioma of brain stem" EXACT [NCIT:C9042]
synonym: "pediatric glioma of brainstem" EXACT [NCIT:C9042]
synonym: "pediatric glioma of the brain stem" EXACT [NCIT:C9042]
synonym: "pediatric glioma of the brainstem" EXACT [DOID:6383, NCIT:C9042]
xref: DOID:6383 {source="MONDO:equivalentTo"}
xref: GARD:9306 {source="MONDO:GARD"}
xref: MEDGEN:124481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9042 {source="MONDO:equivalentTo", source="DOID:6383"}
xref: UMLS:C0278600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124481"}
is_a: MONDO:0002911 {source="MONDO:Redundant", source="NCIT:C9042"} ! brain stem glioma
is_a: MONDO:0002914 {source="DOID:6383", source="MONDO:Redundant", source="NCIT:C9042"} ! childhood brain stem neoplasm
intersection_of: MONDO:0002911 ! brain stem glioma
intersection_of: has_characteristic HP:0011463 ! Childhood onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma" xsd:anyURI {source="GARD:0009306"}

[Term]
id: MONDO:0003870
name: childhood brainstem astrocytoma
def: "An astrocytoma that arises from the brain stem and occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain stem astrocytic neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood brain stem astrocytic neoplasm" EXACT [MONDO:design_pattern]
synonym: "childhood brain stem astrocytoma" EXACT [NCIT:C6216]
synonym: "childhood brainstem astrocytoma" EXACT [NCIT:C6216]
synonym: "paediatric brain stem astrocytic neoplasm" EXACT OMO:0003005 []
synonym: "pediatric brain stem astrocytic neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:6386 {source="MONDO:equivalentTo"}
xref: MEDGEN:234123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6216 {source="MONDO:equivalentTo", source="DOID:6386"}
xref: UMLS:C1332950 {source="MEDGEN:234123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003173 {source="MONDO:Redundant", source="NCIT:C6216"} ! brain stem astrocytic neoplasm
is_a: MONDO:0003869 {source="DOID:6386", source="MONDO:Redundant", source="NCIT:C6216"} ! childhood brain stem glioma
intersection_of: MONDO:0003173 ! brain stem astrocytic neoplasm
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003871
name: obsolete metanephric adenoma
is_obsolete: true
replaced_by: MONDO:0006301

[Term]
id: MONDO:0003872
name: ovarian papillary cystadenoma
def: "A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts." [NCIT:C7278]
synonym: "ovarian papillary cystadenoma" EXACT [NCIT:C7278]
xref: DOID:6405 {source="MONDO:equivalentTo"}
xref: MEDGEN:233276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7278 {source="MONDO:equivalentTo", source="DOID:6405", source="MONDO:exact-label-match"}
xref: UMLS:C1335175 {source="MEDGEN:233276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003813 {source="DOID:6405", source="NCIT:C7278"} ! ovarian papillary tumor
is_a: MONDO:0005183 {source="DOID:6405", source="NCIT:C7278/inferred"} ! ovarian cystadenoma

[Term]
id: MONDO:0003873
name: ovarian surface papilloma
def: "A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary." [NCIT:C7279]
synonym: "ovarian surface papilloma" EXACT [NCIT:C7279]
xref: DOID:6407 {source="MONDO:equivalentTo"}
xref: MEDGEN:235423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7279 {source="MONDO:equivalentTo", source="DOID:6407", source="MONDO:exact-label-match"}
xref: UMLS:C1335183 {source="MONDO:equivalentTo", source="MEDGEN:235423", source="MONDO:MEDGEN"}
is_a: MONDO:0000646 {source="MONDO:Redundant", source="NCIT:C7279/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0002362 {source="NCIT:C7279"} ! serous surface papilloma
is_a: MONDO:0003813 {source="DOID:6407", source="NCIT:C7279"} ! ovarian papillary tumor

[Term]
id: MONDO:0003874
name: ovarian serous surface papillary adenocarcinoma
def: "A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern." [NCIT:C6256]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian serous surface papillary adenocarcinoma" EXACT [NCIT:C6256]
synonym: "ovary papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "serous surface papillary carcinoma of ovary" EXACT [DOID:6408, NCIT:C6256]
synonym: "serous surface papillary carcinoma of the ovary" EXACT [NCIT:C6256]
xref: DOID:6408 {source="MONDO:equivalentTo"}
xref: MEDGEN:233279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6256 {source="MONDO:equivalentTo", source="DOID:6408"}
xref: UMLS:C1335178 {source="MEDGEN:233279", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003813 {source="DOID:6408", source="NCIT:C6256"} ! ovarian papillary tumor
is_a: MONDO:0005211 {source="NCIT:C6256"} ! ovarian serous adenocarcinoma
is_a: MONDO:0006509 {source="DOID:6408", source="MONDO:Entailed", source="NCIT:C6256/inferred"} ! papillary carcinoma
intersection_of: MONDO:0006509 ! papillary carcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0003875
name: childhood central nervous system mature teratoma
def: "A mature teratoma that arises from the central nervous system during childhood." [NCIT:C27404]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system mature teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood central nervous system mature teratoma" EXACT [NCIT:C27404]
synonym: "paediatric central nervous system mature teratoma" EXACT OMO:0003005 []
synonym: "pediatric central nervous system mature teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:6423 {source="MONDO:equivalentTo"}
xref: MEDGEN:232345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27404 {source="DOID:6423", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232345"}
is_a: MONDO:0003733 {source="DOID:6423", source="MONDO:Redundant", source="NCIT:C27404"} ! central nervous system mature teratoma
intersection_of: MONDO:0003733 ! central nervous system mature teratoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003876
name: eyelid carcinoma
def: "A carcinoma that arises from epithelial cells of the eyelid." [https://orcid.org/0000-0002-6601-2165]
synonym: "carcinoma of eyelid" EXACT [MONDO:patterns/carcinoma, NCIT:C6078]
synonym: "carcinoma of the eyelid" EXACT [DOID:6425, NCIT:C6078]
synonym: "eyelid carcinoma" EXACT [MONDO:patterns/location, NCIT:C6078]
xref: DOID:6425 {source="MONDO:equivalentTo"}
xref: MEDGEN:182526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6078 {source="DOID:6425", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0920196 {source="MEDGEN:182526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C6078/inferred"} ! eyelid neoplasm
is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C6078"} ! eye carcinoma
is_a: MONDO:0002656 {source="DOID:6425", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin carcinoma
is_a: MONDO:0021313 {source="MONDO:Redundant", source="NCIT:C6078"} ! eyelid cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0003877
name: obsolete cervical adenoid basal carcinoma
is_obsolete: true
replaced_by: MONDO:0006132

[Term]
id: MONDO:0003878
name: malignant choroid melanoma
alt_id: MONDO:0021436
def: "A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "choroid malignant melanoma" EXACT [NCIT:C4561]
synonym: "choroid melanoma" EXACT [NCIT:C4561]
synonym: "choroidal melanoma" EXACT [NCIT:C4561]
synonym: "malignant melanoma of choroid" EXACT [NCIT:C4561]
synonym: "malignant melanoma of the choroid" EXACT [NCIT:C4561]
synonym: "melanoma (disease) of optic choroid" EXACT []
synonym: "melanoma of choroid" EXACT [NCIT:C4561]
synonym: "melanoma of the choroid" EXACT [DOID:6438, NCIT:C4561]
synonym: "optic choroid melanoma" EXACT []
synonym: "optic choroid melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6438 {source="MONDO:equivalentTo"}
xref: MEDGEN:138064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4561 {source="MONDO:equivalentTo", source="DOID:6438"}
xref: SCTID:255021005 {source="MONDO:equivalentTo", source="DOID:6438"}
xref: UMLS:C0346388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138064"}
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C4561"} ! uveal melanoma
is_a: MONDO:0006700 {source="DOID:6438", source="MONDO:Redundant", source="NCIT:C4561"} ! choroid cancer
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0003879
name: ovarian endometrioid adenocarcinofibroma
def: "A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma." [NCIT:C40060, NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian endometrioid adenocarcinofibroma" EXACT [NCIT:C40060]
synonym: "ovarian endometrioid malignant adenofibroma" EXACT [NCIT:C40060]
xref: DOID:6445 {source="MONDO:equivalentTo"}
xref: ICDO:8381/3 {source="NCIT:C40060"}
xref: MEDGEN:276664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40060 {source="DOID:6445", source="MONDO:equivalentTo"}
xref: UMLS:C1518711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276664"}
is_a: MONDO:0002991 {source="https://orcid.org/0000-0001-5208-3432"} ! adenocarcinofibroma
relationship: disease_has_location UBERON:0000992 ! ovary
relationship: excluded_subClassOf MONDO:0003792 {source="DOID:6445", source="https://orcid.org/0000-0001-5208-3432"} ! ovarian carcinosarcoma

[Term]
id: MONDO:0003880
name: ceruminous carcinoma
def: "An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal." [NCIT:P378]
synonym: "carcinoma, ceruminous gland, malignant" EXACT [NCIT:C4176]
synonym: "ceruminous adenocarcinoma" EXACT [DOID:6446, NCIT:C4176]
synonym: "ceruminous adenocarcinoma (morphologic abnormality)" EXACT [DOID:6446]
xref: DOID:6446 {source="MONDO:equivalentTo"}
xref: ICDO:8420/3 {source="NCIT:C4176"}
xref: MEDGEN:83135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4176 {source="DOID:6446", source="MONDO:equivalentTo"}
xref: SCTID:58069009 {source="DOID:6446"}
xref: UMLS:C0334353 {source="MEDGEN:83135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002944 {source="NCIT:C4176"} ! external ear carcinoma
is_a: MONDO:0003214 {source="DOID:6446", source="NCIT:C4176"} ! apocrine adenocarcinoma

[Term]
id: MONDO:0003881
name: vulvar apocrine adenocarcinoma
def: "An apocrine adenocarcinoma that arises from the sweat glands in the vulva." [NCIT:C40308]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "apocrine adenocarcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva apocrine adenocarcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar apocrine adenocarcinoma" EXACT [NCIT:C40308]
xref: DOID:6448 {source="MONDO:equivalentTo"}
xref: MEDGEN:384494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40308 {source="DOID:6448", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C2202741 {source="MEDGEN:384494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003214 {source="MONDO:Redundant", source="NCIT:C40308"} ! apocrine adenocarcinoma
is_a: MONDO:0024336 {source="DOID:6448", source="MONDO:Redundant", source="NCIT:C40308/inferred"} ! vulvar adenocarcinoma
intersection_of: MONDO:0003214 ! apocrine adenocarcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0003882
name: central nervous system fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C5465]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "central nervous system fibrosarcoma" EXACT [NCIT:C5465]
synonym: "central nervous system fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "CNS fibrosarcoma" EXACT [NCIT:C5465]
synonym: "fibrosarcoma of central nervous system" EXACT [NCIT:C5465]
synonym: "fibrosarcoma of CNS" EXACT [NCIT:C5465]
synonym: "fibrosarcoma of the central nervous system" EXACT [NCIT:C5465]
synonym: "fibrosarcoma of the CNS" EXACT [DOID:6451, NCIT:C5465]
xref: DOID:6451 {source="MONDO:equivalentTo"}
xref: MEDGEN:232039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5465 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6451"}
xref: UMLS:C1332879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232039"}
is_a: MONDO:0002217 {source="DOID:6451", source="MONDO:Redundant", source="NCIT:C5465"} ! central nervous system sarcoma
is_a: MONDO:0005164 {source="DOID:6451", source="MONDO:Redundant", source="NCIT:C5465/inferred"} ! fibrosarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003883
name: obsolete cerebellar liponeurocytoma
is_obsolete: true
replaced_by: MONDO:0016728

[Term]
id: MONDO:0003884
name: lipoma of the rectum
def: "A benign adipose tissue neoplasm of the rectum." [NCIT:P378]
synonym: "lipoma of rectum" EXACT [DOID:6459, NCIT:C5551]
synonym: "rectal lipoma" EXACT [NCIT:C5551]
synonym: "rectum lipoma" EXACT [MONDO:patterns/location]
xref: DOID:6459 {source="MONDO:equivalentTo"}
xref: MEDGEN:233392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5551 {source="DOID:6459", source="MONDO:equivalentTo"}
xref: UMLS:C1335684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233392"}
is_a: MONDO:0002165 {source="MONDO:Redundant", source="NCIT:C5551/inferred"} ! rectal neoplasm
is_a: MONDO:0003885 {source="DOID:6459", source="MONDO:Redundant", source="NCIT:C5551"} ! colorectal lipoma
is_a: MONDO:0021462 {source="MONDO:Redundant", source="NCIT:C5551"} ! benign neoplasm of rectum
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0003885
name: colorectal lipoma
def: "A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum." [NCIT:C5678]
synonym: "colorectal lipoma" EXACT [NCIT:C5678]
synonym: "large bowel lipoma" EXACT [NCIT:C5678]
synonym: "large intestine lipoma" EXACT [MONDO:patterns/location, NCIT:C5678]
synonym: "lipoma of large bowel" EXACT [NCIT:C5678]
synonym: "lipoma of large intestine" EXACT [DOID:6460, NCIT:C5678]
synonym: "lipoma of the large bowel" EXACT [NCIT:C5678]
synonym: "lipoma of the large intestine" EXACT [NCIT:C5678]
xref: DOID:6460 {source="MONDO:equivalentTo"}
xref: MEDGEN:232382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5678 {source="MONDO:equivalentTo", source="DOID:6460"}
xref: UMLS:C1333114 {source="MEDGEN:232382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003062 {source="DOID:6460", source="MONDO:Redundant", source="NCIT:C5678/inferred"} ! intestinal benign neoplasm
is_a: MONDO:0005106 {source="DOID:6460", source="MONDO:Redundant", source="NCIT:C5678"} ! lipoma
is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C5678"} ! benign neoplasm of large intestine
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0003886
name: mucinous cystadenofibroma
def: "A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C8979]
synonym: "mucinous cystadenofibroma" EXACT [NCIT:C8979]
xref: DOID:6468 {source="MONDO:equivalentTo"}
xref: MEDGEN:234608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8979 {source="DOID:6468", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:10705005 {source="DOID:6468"}
xref: UMLS:C1377844 {source="MEDGEN:234608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002398 {source="MONDO:Redundant", source="NCIT:C8979"} ! mucinous adenofibroma
is_a: MONDO:0003464 {source="DOID:6468", source="MONDO:Redundant", source="NCIT:C8979"} ! cystadenofibroma
intersection_of: MONDO:0002398 {source="NCIT:C8979"} ! mucinous adenofibroma
intersection_of: MONDO:0003464 {source="NCIT:C8979"} ! cystadenofibroma

[Term]
id: MONDO:0003887
name: ovarian mucinous adenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C40040]
synonym: "mucinous adenofibroma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian mucinous adenofibroma" EXACT [NCIT:C40040]
synonym: "ovary mucinous adenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:6469 {source="MONDO:equivalentTo"}
xref: MEDGEN:309511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40040 {source="DOID:6469", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309511"}
is_a: MONDO:0000646 {source="DOID:6469", source="MONDO:Redundant", source="NCIT:C40040/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0002398 {source="MONDO:Redundant", source="NCIT:C40040"} ! mucinous adenofibroma
intersection_of: MONDO:0002398 {source="NCIT:C40040"} ! mucinous adenofibroma
intersection_of: disease_has_location UBERON:0000992 {source="NCIT:C40040"} ! ovary

[Term]
id: MONDO:0003888
name: childhood testicular mixed embryonal carcinoma and teratoma
def: "A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components." [NCIT:C6539]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood teratocarcinoma of testis" RELATED [NCIT:C6539]
synonym: "childhood teratocarcinoma of the testis" RELATED [NCIT:C6539]
synonym: "childhood testicular mixed embryonal carcinoma and teratoma" EXACT [NCIT:C6539]
synonym: "childhood testicular teratocarcinoma" RELATED [NCIT:C6539]
synonym: "paediatric testicular teratocarcinoma" EXACT OMO:0003005 []
synonym: "pediatric testicular teratocarcinoma" EXACT [DOID:6474, NCIT:C6539]
xref: DOID:6474 {source="MONDO:equivalentTo"}
xref: MEDGEN:234137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6539 {source="MONDO:equivalentTo", source="DOID:6474"}
xref: UMLS:C1333008 {source="MEDGEN:234137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003787 {source="DOID:6474", source="NCIT:C6539"} ! childhood testicular mixed germ cell cancer

[Term]
id: MONDO:0003889
name: infiltrating bladder urothelial carcinoma, clear cell variant
def: "An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells." [NCIT:C39827]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "clear cell variant infiltrating bladder urothelial carcinoma" RELATED [DOID:6476]
synonym: "infiltrating bladder urothelial carcinoma, clear cell variant" EXACT [NCIT:C39827]
xref: DOID:6476 {source="MONDO:equivalentTo"}
xref: MEDGEN:268572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39827 {source="DOID:6476", source="MONDO:equivalentTo", source="NCIT:C39827"}
xref: UMLS:C1512737 {source="MEDGEN:268572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003890 {source="DOID:6476", source="NCIT:C39827"} ! infiltrating bladder urothelial carcinoma

[Term]
id: MONDO:0003890
name: infiltrating bladder urothelial carcinoma
def: "An invasive transitional cell carcinoma that arises from the urinary bladder urothelium." [NCIT:C27885]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infiltrating bladder urothelial carcinoma" EXACT [NCIT:C27885]
synonym: "infiltrating transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C27885]
synonym: "invasive bladder transitional cell carcinoma" EXACT [NCIT:C27885]
synonym: "invasive bladder urothelial carcinoma" EXACT [DOID:6477, NCIT:C27885]
synonym: "invasive transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C27885]
xref: DOID:6477 {source="MONDO:equivalentTo"}
xref: MEDGEN:233582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27885 {source="DOID:6477", source="MONDO:equivalentTo", source="NCIT:C27885"}
xref: UMLS:C1334281 {source="MEDGEN:233582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005611 {source="DOID:6477", source="NCIT:C27885"} ! bladder transitional cell carcinoma
intersection_of: MONDO:0005611 ! bladder transitional cell carcinoma
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0003891
name: bladder signet ring cell adenocarcinoma
def: "A signet ring cell carcinoma that involves the urinary bladder." [MONDO:patterns/location]
synonym: "bladder signet ring cell adenocarcinoma" EXACT [NCIT:C6163]
synonym: "signet Ring cell adenocarcinoma of bladder" RELATED [NCIT:C6163]
synonym: "signet ring cell adenocarcinoma of bladder" RELATED [DOID:6481]
synonym: "signet Ring cell adenocarcinoma of the bladder" RELATED [NCIT:C6163]
synonym: "signet Ring cell adenocarcinoma of the urinary bladder" RELATED [NCIT:C6163]
synonym: "signet Ring cell adenocarcinoma of urinary bladder" RELATED [NCIT:C6163]
synonym: "urinary bladder signet Ring adenocarcinoma" EXACT [DOID:6481, NCIT:C6163]
synonym: "urinary bladder signet ring cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6481 {source="MONDO:equivalentTo"}
xref: MEDGEN:231949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6163 {source="NCIT:C6163", source="MONDO:equivalentTo", source="DOID:6481"}
xref: UMLS:C1332563 {source="MEDGEN:231949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002751 {source="DOID:6481", source="MONDO:Redundant", source="NCIT:C6163"} ! bladder adenocarcinoma
is_a: MONDO:0005092 {source="DOID:6481", source="MONDO:Redundant", source="NCIT:C6163"} ! signet ring cell carcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0003892
name: acinar lung adenocarcinoma
def: "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" [NCIT:C5649]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acinar adenocarcinoma of lung" EXACT [NCIT:C5649]
synonym: "acinar adenocarcinoma of the lung" EXACT [DOID:6482, NCIT:C5649]
synonym: "acinar lung adenocarcinoma" EXACT [NCIT:C5649]
synonym: "lung acinar adenocarcinoma" RELATED [DOID:6482]
xref: DOID:6482 {source="MONDO:equivalentTo"}
xref: MEDGEN:233130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5649 {source="MONDO:equivalentTo", source="DOID:6482"}
xref: UMLS:C1332137 {source="MEDGEN:233130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005061 {source="DOID:6482", source="NCIT:C5649"} ! lung adenocarcinoma

[Term]
id: MONDO:0003893
name: rete testis adenoma
def: "A benign epithelial neoplasm arising from the rete testis." [NCIT:C39956]
synonym: "adenoma, rete testis, benign" EXACT [NCIT:C39956]
synonym: "rete testis adenoma" EXACT [MONDO:patterns/location, NCIT:C39956]
xref: DOID:6483 {source="MONDO:equivalentTo"}
xref: MEDGEN:308161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39956 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6483"}
xref: UMLS:C1514910 {source="MONDO:equivalentTo", source="MEDGEN:308161", source="MONDO:MEDGEN"}
is_a: MONDO:0003562 {source="DOID:6483", source="MONDO:Redundant", source="NCIT:C39956"} ! rete testis neoplasm
is_a: MONDO:0004972 {source="DOID:6483", source="MONDO:Entailed", source="MONDO:Redundant"} ! adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0003959 ! rete testis

[Term]
id: MONDO:0003894
name: mediastinal melanocytic neurilemmoma
def: "A melanotic schwannoma that affects the mediastinum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinal melanocytic schwannoma" EXACT [NCIT:C6635]
synonym: "mediastinal melanotic schwannoma" EXACT [NCIT:C6635]
synonym: "melanocytic neurilemmoma of mediastinum" EXACT [NCIT:C6635]
synonym: "melanocytic neurilemmoma of the mediastinum" EXACT [NCIT:C6635]
synonym: "melanocytic schwannoma of mediastinum" EXACT [DOID:6484, NCIT:C6635]
synonym: "melanocytic schwannoma of the mediastinum" EXACT [NCIT:C6635]
xref: DOID:6484 {source="MONDO:equivalentTo"}
xref: MEDGEN:277352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6635 {source="MONDO:equivalentTo", source="DOID:6484"}
xref: UMLS:C1334668 {source="MEDGEN:277352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002558 {source="DOID:6484", source="NCIT:C6635"} ! melanotic neurilemmoma

[Term]
id: MONDO:0003895
name: periosteal osteogenic sarcoma
def: "An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "juxtacortical chondroblastic osteosarcoma" EXACT [NCIT:C8970]
synonym: "PEOS" RELATED ABBREVIATION [ONCOTREE:PEOS]
synonym: "periosteal osteogenic sarcoma" EXACT [DOID:6489]
synonym: "periosteal osteosarcoma" EXACT [DOID:6489, MTH:NOCODE, NCIT:C8970]
synonym: "periosteal osteosarcoma (morphologic abnormality)" EXACT [DOID:6489]
xref: DOID:6489 {source="MONDO:equivalentTo"}
xref: ICDO:9193/3 {source="NCIT:C8970"}
xref: MEDGEN:234607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8970 {source="DOID:6489", source="MONDO:equivalentTo"}
xref: ONCOTREE:PEOS {source="MONDO:equivalentTo"}
xref: SCTID:128772005 {source="DOID:6489"}
xref: SCTID:91242000 {source="DOID:6489"}
xref: UMLS:C1377843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234607"}
is_a: MONDO:0002628 {source="DOID:6489", source="NCIT:C8970"} ! peripheral osteosarcoma

[Term]
id: MONDO:0003896
name: breast capillary hemangioma
def: "A capillary hemangioma arising from the breast." [NCIT:C5210]
synonym: "breast capillary angioma" EXACT [NCIT:C5210]
synonym: "breast capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C5210]
synonym: "capillary angioma of breast" EXACT [DOID:6491, NCIT:C5210]
synonym: "capillary angioma of the breast" EXACT [NCIT:C5210]
synonym: "capillary hemangioma of breast" EXACT [NCIT:C5210]
synonym: "capillary hemangioma of the breast" EXACT [NCIT:C5210]
xref: DOID:6491 {source="MONDO:equivalentTo"}
xref: MEDGEN:231963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5210 {source="MONDO:equivalentTo", source="DOID:6491", source="MONDO:exact-label-match"}
xref: UMLS:C1332619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231963"}
is_a: MONDO:0002407 {source="DOID:6491", source="MONDO:Redundant", source="NCIT:C5210"} ! capillary hemangioma
is_a: MONDO:0003126 {source="DOID:6491", source="MONDO:Redundant", source="NCIT:C5210"} ! breast hemangioma
intersection_of: MONDO:0002407 ! capillary hemangioma
intersection_of: disease_has_location UBERON:0000310 ! breast
relationship: excluded_subClassOf MONDO:0002064 {source="DOID:6491", source="https://orcid.org/0000-0001-5208-3432"} ! breast angiomatosis

[Term]
id: MONDO:0003897
name: breast epithelioid hemangioma
def: "A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast." [NCIT:C5211]
subset: inferred_rare
subset: rare
synonym: "breast epithelioid hemangioma" EXACT [NCIT:C5211]
synonym: "breast histiocytoid hemangioma" EXACT [DOID:6492, MONDO:patterns/location, NCIT:C5211]
synonym: "epithelioid breast hemangioma" EXACT [NCIT:C5211]
synonym: "epithelioid hemangioma of breast" EXACT [NCIT:C5211]
synonym: "epithelioid hemangioma of the breast" EXACT [NCIT:C5211]
synonym: "histiocytoid breast hemangioma" EXACT [NCIT:C5211]
synonym: "histiocytoid hemangioma of breast" EXACT [NCIT:C5211]
synonym: "histiocytoid hemangioma of the breast" EXACT [NCIT:C5211]
xref: DOID:6492 {source="MONDO:equivalentTo"}
xref: MEDGEN:231965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5211 {source="MONDO:equivalentTo", source="DOID:6492", source="MONDO:exact-label-match"}
xref: UMLS:C1332627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231965"}
is_a: MONDO:0003126 {source="DOID:6492", source="MONDO:Redundant", source="NCIT:C5211"} ! breast hemangioma
is_a: MONDO:0021169 {source="DOID:6492", source="MONDO:Redundant", source="NCIT:C5211"} ! epithelioid hemangioma
intersection_of: MONDO:0021169 ! epithelioid hemangioma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003898
name: pediatric myxoid chondrosarcoma
def: "A myxoid chondrosarcoma occurring in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood myxoid chondrosarcoma" EXACT [NCIT:C27377]
synonym: "myxoid chondrosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric myxoid chondrosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27377]
xref: DOID:6494 {source="MONDO:equivalentTo"}
xref: MEDGEN:232065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27377 {source="MONDO:equivalentTo", source="DOID:6494"}
xref: UMLS:C1332984 {source="MEDGEN:232065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003681 {source="DOID:6494", source="MONDO:Redundant", source="NCIT:C27377"} ! myxoid chondrosarcoma
is_a: MONDO:0006517 {source="MONDO:Redundant", source="NCIT:C27377"} ! childhood malignant neoplasm
intersection_of: MONDO:0003681 ! myxoid chondrosarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003899
name: adult myxoid chondrosarcoma
def: "A myxoid chondrosarcoma occurring in adults." [NCIT:C27378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult myxoid chondrosarcoma" EXACT [NCIT:C27378]
synonym: "myxoid chondrosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6495 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:312875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27378 {source="MONDO:equivalentObsolete", source="MONDO:exact-label-match", source="DOID:6495"}
xref: UMLS:C1706731 {source="MEDGEN:312875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003681 {source="DOID:6495", source="MONDO:Redundant", source="NCIT:C27378"} ! myxoid chondrosarcoma
intersection_of: MONDO:0003681 ! myxoid chondrosarcoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003900
name: connective tissue disorder
def: "A disease involving the connective tissue." [https://orcid.org/0000-0002-6601-2165]
comment: Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone.
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "connective tissue disease" EXACT [MONDO:patterns/location]
synonym: "connective tissue disease or disorder" EXACT [MONDO:patterns/location]
synonym: "connective tissue diseases" EXACT [NCIT:C26729]
synonym: "connective tissue disorder" EXACT [DOID:65]
synonym: "connective tissue disorders" EXACT [NCIT:C26729]
synonym: "disease of connective tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of connective tissue" EXACT []
synonym: "disease, connective tissue" EXACT [NCIT:C26729]
synonym: "disorder of connective tissue" EXACT [DOID:65, MONDO:patterns/location_top]
synonym: "primary disorder of connective tissue" EXACT [NCIT:C26729]
synonym: "tissue disease, connective" EXACT [NCIT:C26729]
xref: DOID:65 {source="MONDO:equivalentTo"}
xref: EFO:1001986 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M00-M99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M30-M36 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M70-M79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M91-M94 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M95-M95 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003240 {source="DOID:65", source="MONDO:equivalentTo"}
xref: NANDO:2100172 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26729 {source="DOID:65", source="MONDO:equivalentTo"}
xref: SCTID:105969002 {source="DOID:65", source="MONDO:equivalentTo"}
xref: SCTID:201432001 {source="DOID:65"}
xref: SCTID:268048008 {source="DOID:65"}
xref: SCTID:268126004 {source="DOID:65"}
xref: UMLS:C0009782 {source="MEDGEN:1098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease
relationship: excluded_subClassOf MONDO:0002081 {source="DOID:65", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3570" xsd:anyURI

[Term]
id: MONDO:0003901
name: cerebellar hemangioblastoma
def: "A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26)." [NCIT:C5146]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioblastoma of cerebellum" EXACT [NCIT:C5146]
synonym: "angioblastoma of the cerebellum" EXACT [NCIT:C5146]
synonym: "cerebellar angioblastoma" EXACT [NCIT:C5146]
synonym: "cerebellar capillary hemangioblastoma" EXACT [NCIT:C5146]
synonym: "cerebellar hemangioblastoma" EXACT [NCIT:C5146]
synonym: "cerebellum hemangioblastoma" EXACT [MONDO:patterns/location]
synonym: "hemangioblastoma of cerebellum" EXACT [DOID:6500, NCIT:C5146]
synonym: "hemangioblastoma of the cerebellum" EXACT [NCIT:C5146]
xref: DOID:6500 {source="MONDO:equivalentTo"}
xref: MEDGEN:234108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5146 {source="DOID:6500", source="MONDO:equivalentTo"}
xref: UMLS:C1332900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234108"}
is_a: MONDO:0002913 {source="DOID:6500", source="MONDO:Redundant", source="NCIT:C5146"} ! cerebellar neoplasm
is_a: MONDO:0016748 {source="DOID:6500", source="MONDO:Redundant", source="NCIT:C5146/inferred"} ! hemangioblastoma
intersection_of: MONDO:0016748 ! hemangioblastoma
intersection_of: disease_has_location UBERON:0002037 ! cerebellum

[Term]
id: MONDO:0003902
name: brain stem hemangioblastoma
def: "A hemangioblastoma that involves the brainstem." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angioblastoma of brain stem" EXACT [NCIT:C5147]
synonym: "angioblastoma of brainstem" EXACT [NCIT:C5147]
synonym: "angioblastoma of the brain stem" EXACT [NCIT:C5147]
synonym: "angioblastoma of the brainstem" EXACT [NCIT:C5147]
synonym: "brain stem angioblastoma" EXACT [NCIT:C5147]
synonym: "brain stem capillary hemangioblastoma" EXACT [NCIT:C5147]
synonym: "brain stem hemangioblastoma" EXACT [NCIT:C5147]
synonym: "brainstem angioblastoma" EXACT [NCIT:C5147]
synonym: "brainstem hemangioblastoma" EXACT [MONDO:patterns/location]
synonym: "hemangioblastoma of brain stem" EXACT [NCIT:C5147]
synonym: "hemangioblastoma of brainstem" EXACT [DOID:6501, NCIT:C5147]
synonym: "hemangioblastoma of the brain stem" EXACT [NCIT:C5147]
synonym: "hemangioblastoma of the brainstem" EXACT [NCIT:C5147]
xref: DOID:6501 {source="MONDO:equivalentTo"}
xref: MEDGEN:231461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5147 {source="DOID:6501", source="MONDO:equivalentTo"}
xref: UMLS:C1332611 {source="MEDGEN:231461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016748 {source="DOID:6501", source="MONDO:Redundant", source="NCIT:C5147/inferred"} ! hemangioblastoma
intersection_of: MONDO:0016748 ! hemangioblastoma
intersection_of: disease_has_location UBERON:0002298 ! brainstem

[Term]
id: MONDO:0003903
name: benign vaginal mixed tumor
def: "A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells." [NCIT:C40280]
synonym: "benign vaginal mixed tumor" EXACT [NCIT:C40280]
synonym: "vaginal spindle cell epithelioma" EXACT [NCIT:C40280]
xref: DOID:6505 {source="MONDO:equivalentTo"}
xref: MEDGEN:267350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40280 {source="DOID:6505", source="MONDO:equivalentTo"}
xref: UMLS:C1511107 {source="MEDGEN:267350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001731 {source="DOID:6505", source="NCIT:C40280"} ! benign vaginal mixed epithelial and mesenchymal neoplasm

[Term]
id: MONDO:0003904
name: lung occult squamous cell carcinoma
def: "A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:P378]
synonym: "occult squamous cell carcinoma of lung" RELATED [DOID:6510]
synonym: "occult squamous cell carcinoma of the lung" EXACT [DOID:6510, NCIT:C6686]
synonym: "occult squamous cell lung carcinoma" EXACT [NCIT:C6686]
xref: DOID:6510 {source="MONDO:equivalentTo"}
xref: MEDGEN:235400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6686 {source="DOID:6510", source="MONDO:equivalentTo"}
xref: UMLS:C1335100 {source="MEDGEN:235400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005097 {source="DOID:6510", source="NCIT:C6686"} ! squamous cell lung carcinoma

[Term]
id: MONDO:0003905
name: ovarian yolk sac tumor, glandular pattern
def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures." [NCIT:C39988]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glandular pattern ovarian yolk sac tumor" RELATED [DOID:6511]
synonym: "glandular pattern ovarian yolk sac tumour" RELATED OMO:0003005 []
synonym: "ovarian yolk Sac tumor, glandular pattern" EXACT [NCIT:C39988]
xref: DOID:6511 {source="MONDO:equivalentTo"}
xref: MEDGEN:309520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39988 {source="DOID:6511", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309520"}
is_a: MONDO:0006344 {source="DOID:6511", source="NCIT:C39988"} ! ovarian yolk sac tumor

[Term]
id: MONDO:0003906
name: ovarian yolk sac tumor, hepatoid pattern
def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue." [NCIT:C39989]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hepatoid pattern ovarian yolk sac tumor" RELATED [DOID:6512]
synonym: "hepatoid pattern ovarian yolk sac tumour" RELATED OMO:0003005 []
synonym: "ovarian yolk Sac tumor, hepatoid pattern" EXACT [NCIT:C39989]
xref: DOID:6512 {source="MONDO:equivalentTo"}
xref: MEDGEN:276676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39989 {source="DOID:6512", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276676"}
is_a: MONDO:0006344 {source="DOID:6512", source="NCIT:C39989"} ! ovarian yolk sac tumor

[Term]
id: MONDO:0003907
name: ovarian yolk sac tumor, polyvesicular vitelline pattern
def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues." [NCIT:C39987]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian yolk sac tumor, polyvesicular vitelline pattern" EXACT [NCIT:C39987]
synonym: "polyvesicular vitelline pattern ovarian yolk sac tumor" RELATED [DOID:6514]
synonym: "polyvesicular vitelline pattern ovarian yolk sac tumour" RELATED OMO:0003005 []
xref: DOID:6514 {source="MONDO:equivalentTo"}
xref: MEDGEN:309521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39987 {source="DOID:6514", source="MONDO:equivalentTo", source="NCIT:C39987"}
xref: UMLS:C1518749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309521"}
is_a: MONDO:0006344 {source="DOID:6514", source="NCIT:C39987"} ! ovarian yolk sac tumor

[Term]
id: MONDO:0003908
name: clivus meningioma
def: "A meningioma that affects the clivus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "clivus of occipital bone meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of clivus of occipital bone" EXACT []
synonym: "meningioma of clivus" EXACT [NCIT:C5289]
synonym: "meningioma of the clivus" EXACT [DOID:6517, NCIT:C5289]
xref: DOID:6517 {source="MONDO:equivalentTo"}
xref: MEDGEN:272489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5289 {source="MONDO:equivalentTo", source="DOID:6517"}
xref: UMLS:C1333073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272489"}
is_a: MONDO:0002919 {source="DOID:6517", source="NCIT:C5289"} ! posterior cranial fossa meningioma
is_a: MONDO:0002998 {source="DOID:6517", source="NCIT:C5289"} ! skull base meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0004108 ! clivus of occipital bone

[Term]
id: MONDO:0003909
name: Bartholin gland adenomyoma
def: "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture." [NCIT:P378]
synonym: "adenomyoma of major vestibular gland" EXACT [MONDO:design_pattern]
synonym: "Bartholin gland adenomyoma" EXACT [DOID:6518]
synonym: "major vestibular gland adenomyoma" EXACT [MONDO:patterns/location]
xref: DOID:6518 {source="MONDO:equivalentTo"}
xref: MEDGEN:307248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40300 {source="MONDO:equivalentTo", source="DOID:6518"}
xref: UMLS:C1511049 {source="MEDGEN:307248", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002198 {source="NCIT:C40300"} ! vulvar glandular neoplasm
is_a: MONDO:0005635 {source="DOID:6518", source="MONDO:Entailed", source="MONDO:Redundant"} ! adenomyoma
is_a: MONDO:0021114 {source="MONDO:Redundant", source="NCIT:C40300/inferred"} ! Bartholin gland neoplasm
intersection_of: MONDO:0005635 ! adenomyoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0003910
name: mixed cell uveal melanoma
def: "A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells." [NCIT:C35781]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mixed cell uveal melanoma" EXACT [MONDO:0006305, NCIT:C35781]
xref: DOID:6522 {source="MONDO:equivalentTo"}
xref: EFO:1000380 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35781 {source="DOID:6522", source="MONDO:equivalentTo", source="EFO:1000380"}
xref: UMLS:C1334782 {source="MEDGEN:235330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006486 {source="DOID:6522", source="NCIT:C35781"} ! uveal melanoma

[Term]
id: MONDO:0003911
name: ciliary body mixed cell melanoma
def: "A mixed cell uveal melanoma that involves the ciliary body." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ciliary body mixed cell melanoma" EXACT [NCIT:C35783]
synonym: "ciliary body mixed cell uveal melanoma" EXACT [MONDO:patterns/location]
synonym: "mixed cell uveal melanoma of ciliary body" EXACT [MONDO:design_pattern]
xref: DOID:6523 {source="MONDO:equivalentTo"}
xref: MEDGEN:234150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35783 {source="DOID:6523", source="MONDO:equivalentTo"}
xref: UMLS:C1333051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234150"}
is_a: MONDO:0003910 {source="DOID:6523", source="MONDO:Redundant", source="NCIT:C35783"} ! mixed cell uveal melanoma
is_a: MONDO:0003912 {source="DOID:6523", source="MONDO:Redundant", source="NCIT:C35783"} ! malignant ciliary body melanoma
intersection_of: MONDO:0003910 ! mixed cell uveal melanoma
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0003912
name: malignant ciliary body melanoma
alt_id: MONDO:0021434
def: "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ciliary body malignant melanoma" EXACT [NCIT:C4558]
synonym: "ciliary body melanoma" EXACT [NCIT:C4558]
synonym: "ciliary body melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant melanoma of ciliary body" EXACT [NCIT:C4558]
synonym: "malignant melanoma of the ciliary body" EXACT [NCIT:C4558]
synonym: "melanoma (disease) of ciliary body" EXACT []
synonym: "melanoma of ciliary body" EXACT [NCIT:C4558]
synonym: "melanoma of the ciliary body" EXACT [DOID:6524, NCIT:C4558]
xref: DOID:6524 {source="MONDO:equivalentTo"}
xref: ICD9:190.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4558 {source="DOID:6524", source="MONDO:equivalentTo"}
xref: SCTID:255015006 {source="DOID:6524", source="MONDO:equivalentTo"}
xref: UMLS:C0346379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138062"}
is_a: MONDO:0002969 {source="DOID:6524", source="MONDO:Redundant", source="NCIT:C4558"} ! ciliary body cancer
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C4558"} ! uveal melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0003913
name: choroid mixed cell melanoma
def: "A mixed cell uveal melanoma that involves the optic choroid." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "choroid mixed cell melanoma" EXACT [NCIT:C35782]
synonym: "mixed cell uveal melanoma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "optic choroid mixed cell uveal melanoma" EXACT [MONDO:patterns/location]
xref: DOID:6525 {source="MONDO:equivalentTo"}
xref: MEDGEN:232361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35782 {source="DOID:6525", source="MONDO:equivalentTo"}
xref: UMLS:C1333025 {source="MEDGEN:232361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003878 {source="DOID:6525", source="MONDO:Redundant", source="NCIT:C35782"} ! malignant choroid melanoma
is_a: MONDO:0003910 {source="MONDO:Redundant", source="NCIT:C35782"} ! mixed cell uveal melanoma
intersection_of: MONDO:0003910 ! mixed cell uveal melanoma
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0003914
name: obsolete inborn purine-pyrimidine metabolic disorder
is_obsolete: true
replaced_by: MONDO:0019254

[Term]
id: MONDO:0003915
name: cortical thymoma
def: "A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cortical thymoma" EXACT [NCIT:C6888]
synonym: "polygonal cell thymoma" EXACT [DOID:6530, NCIT:C6888]
synonym: "thymoma type B2" EXACT [NCIT:C6888]
synonym: "thymoma, cortical" EXACT [DOID:6530]
xref: DOID:6530 {source="MONDO:equivalentTo"}
xref: ICDO:8584/1 {source="NCIT:C6888"}
xref: MEDGEN:224762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6888 {source="MONDO:equivalentTo", source="DOID:6530"}
xref: SCTID:128713007 {source="DOID:6530"}
xref: UMLS:C1266095 {source="MEDGEN:224762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016974 {source="DOID:6530", source="NCIT:C6888"} ! thymoma type B

[Term]
id: MONDO:0003916
name: overnutrition
def: "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity." [MESH:D044343]
subset: otar {source="MONDO:OTAR"}
xref: DOID:654 {source="MONDO:equivalentTo"}
xref: ICD10CM:E65-E68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:278.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:219760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D044343 {source="DOID:654", source="MONDO:equivalentTo"}
xref: SCTID:302872003 {source="DOID:654", source="MONDO:equivalentTo"}
xref: UMLS:C1257763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:219760"}
is_a: MONDO:0005137 {source="DOID:654", source="MESH:D044343"} ! nutritional disorder

[Term]
id: MONDO:0003917
name: heart lymphoma
def: "An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cardiac lymphoma" EXACT [NCIT:C5368]
synonym: "heart lymphoma" EXACT [MONDO:patterns/location, NCIT:C5368]
synonym: "lymphoma of heart" EXACT [DOID:6547, NCIT:C5368]
synonym: "lymphoma of the heart" EXACT [NCIT:C5368]
synonym: "PCL" EXACT ABBREVIATION [NCIT:C5368]
synonym: "primary Cardiac lymphoma" EXACT [NCIT:C5368]
synonym: "Primary heart lymphoma" EXACT [NCIT:C5368]
xref: DOID:6547 {source="MONDO:equivalentTo"}
xref: MEDGEN:232331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5368 {source="DOID:6547", source="MONDO:equivalentTo"}
xref: UMLS:C1332850 {source="MEDGEN:232331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001340 {source="DOID:6547", source="NCIT:C5368"} ! heart cancer
is_a: MONDO:0005062 {source="DOID:6547", source="MONDO:Redundant", source="NCIT:C5368/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0003918
name: angiomatous meningioma
def: "A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." [NCIT:C4332]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiomatous meningioma (morphologic abnormality)" EXACT [DOID:6548]
xref: DOID:6548 {source="MONDO:equivalentTo"}
xref: ICDO:9534/0 {source="NCIT:C4332"}
xref: MEDGEN:87274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:6548"}
xref: NCIT:C4332 {source="MONDO:equivalentTo", source="DOID:6548", source="MONDO:exact-label-match"}
xref: SCTID:73918009 {source="DOID:6548"}
xref: UMLS:C0334608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87274"}
is_a: MONDO:0016642 {source="DOID:6548", source="EFO:1000086", source="NCIT:C4332/inferred"} ! meningioma

[Term]
id: MONDO:0003919
name: obsolete inherited metabolic disorder
is_obsolete: true
replaced_by: MONDO:0019052

[Term]
id: MONDO:0003920
name: obsolete gastric small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006229

[Term]
id: MONDO:0003921
name: posterior foramen magnum meningioma
def: "A meningioma that affects the posterior foramen magnum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma of posterior Foramen magnum" EXACT [NCIT:C5282]
synonym: "meningioma of the posterior Foramen magnum" EXACT [DOID:6553, NCIT:C5282]
xref: DOID:6553 {source="MONDO:equivalentTo"}
xref: MEDGEN:235488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5282 {source="DOID:6553", source="MONDO:equivalentTo"}
xref: UMLS:C1335449 {source="MEDGEN:235488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003109 {source="DOID:6553", source="NCIT:C5282"} ! foramen magnum meningioma

[Term]
id: MONDO:0003922
name: ovarian clear cell malignant adenofibroma
def: "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma." [NCIT:C40079]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovarian clear cell adenocarcinofibroma" EXACT [DOID:6554, NCIT:C40079]
synonym: "ovarian clear cell malignant adenofibroma" EXACT [NCIT:C40079]
xref: DOID:6554 {source="MONDO:equivalentTo"}
xref: ICDO:8313/3 {source="NCIT:C40079"}
xref: MEDGEN:384483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40079 {source="DOID:6554", source="MONDO:equivalentTo"}
xref: UMLS:C2075522 {source="MEDGEN:384483", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000548 {source="NCIT:C40079"} ! ovarian clear cell cancer

[Term]
id: MONDO:0003923
name: ethmoid sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6836]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ethmoid sinus Schneiderian papilloma" EXACT [NCIT:C6836]
synonym: "Schneiderian papilloma of ethmoid sinus" RELATED [NCIT:C6836]
synonym: "Schneiderian papilloma of the ethmoid sinus" EXACT [DOID:6559, NCIT:C6836]
xref: DOID:6559 {source="MONDO:equivalentTo"}
xref: MEDGEN:232474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6836 {source="MONDO:equivalentTo", source="DOID:6559"}
xref: UMLS:C1333476 {source="MEDGEN:232474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001764 {source="DOID:6559", source="MONDO:Redundant", source="NCIT:C6836/inferred"} ! ethmoidal sinus neoplasm
is_a: MONDO:0006353 {source="NCIT:C6836"} ! paranasal sinus Schneiderian papilloma
is_a: MONDO:0021515 {source="MONDO:Redundant", source="NCIT:C6836"} ! benign neoplasm of ethmoidal sinus

[Term]
id: MONDO:0003924
name: adrenal cortex adenoma
alt_id: MONDO:0005248
def: "A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [NCIT:C9003]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoma of adrenal cortex" EXACT [NCIT:C9003]
synonym: "adenoma of adrenal gland" EXACT [NCIT:C9003]
synonym: "adenoma of the adrenal cortex" EXACT [NCIT:C9003]
synonym: "adenoma of the adrenal gland" EXACT [DOID:656, NCIT:C3906, NCIT:C9003]
synonym: "adenoma, adrenocortical, benign" EXACT [NCIT:C9003]
synonym: "adrenal adenoma" EXACT [NCIT:C9003]
synonym: "adrenal cortex adenoma" EXACT [MONDO:patterns/location, NCIT:C9003]
synonym: "adrenal cortical adenoma" EXACT [NCIT:C9003]
synonym: "adrenal gland adenoma" EXACT [NCIT:C9003]
synonym: "adrenal incidentaloma" RELATED [GARD:0005745]
synonym: "adrenocortical adenoma" EXACT [GARD:0005745, NCIT:C9003]
synonym: "benign adenoma of adrenal gland" EXACT [NCIT:C9003]
synonym: "benign adenoma of the adrenal gland" EXACT [NCIT:C9003]
synonym: "benign adrenal adenoma" EXACT [NCIT:C9003]
synonym: "benign adrenal gland adenoma" EXACT [NCIT:C9003]
synonym: "cortical cell adenoma" EXACT [NCIT:C9003]
xref: DOID:0050891 {source="EFO:0003104", source="MONDO:equivalentTo"}
xref: DOID:656 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:0003104 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0008196 {source="EFO:0003104", source="MONDO:otherHierarchy", source="MONDO:obsolete"}
xref: HP:0008256 {source="MONDO:otherHierarchy"}
xref: ICDO:8370/0 {source="NCIT:C9003"}
xref: MEDGEN:61654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018246 {source="EFO:0003104", source="MONDO:equivalentTo"}
xref: NANDO:2200352 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9003 {source="EFO:0003104", source="MONDO:equivalentTo"}
xref: ONCOTREE:ACA {source="MONDO:equivalentTo"}
xref: Orphanet:463 {source="MONDO:relatedTo"}
xref: Orphanet:99888 {source="MONDO:equivalentObsolete"}
xref: SCTID:302826002 {source="EFO:0003104", source="MONDO:equivalentTo"}
xref: UMLS:C0206667 {source="MEDGEN:61654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000627 {source="DOID:0050891/inferred", source="DOID:656", source="MONDO:Redundant", source="NCIT:C9003"} ! benign endocrine neoplasm
is_a: MONDO:0004972 {source="EFO:0003104", source="MONDO:Redundant", source="NCIT:C9003"} ! adenoma
is_a: MONDO:0021511 {source="MONDO:Redundant", source="NCIT:C9003/inferred"} ! benign neoplasm of adrenal gland
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex
relationship: disease_has_location UBERON:0001235 {source="EFO:0000784"} ! adrenal cortex

[Term]
id: MONDO:0003925
name: ethmoid sinus inverted papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:C6843]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ethmoid sinus inverted papilloma" EXACT [MONDO:patterns/location]
synonym: "inverted papilloma of ethmoid sinus" EXACT [NCIT:C6843]
synonym: "inverted papilloma of the ethmoid sinus" EXACT [DOID:6562, NCIT:C6843]
xref: DOID:6562 {source="MONDO:equivalentTo"}
xref: MEDGEN:232472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6843 {source="MONDO:equivalentTo", source="DOID:6562"}
xref: UMLS:C1333474 {source="MEDGEN:232472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001764 {source="DOID:6562", source="MONDO:Redundant", source="NCIT:C6843/inferred"} ! ethmoidal sinus neoplasm
is_a: MONDO:0002537 {source="DOID:6562", source="MONDO:Redundant", source="NCIT:C6843/inferred"} ! inverted papilloma
is_a: MONDO:0003923 {source="NCIT:C6843"} ! ethmoid sinus Schneiderian papilloma
is_a: MONDO:0021515 {source="MONDO:Entailed", source="NCIT:C6843/inferred"} ! benign neoplasm of ethmoidal sinus
intersection_of: MONDO:0002537 ! inverted papilloma
intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus

[Term]
id: MONDO:0003926
name: neurilemmoma of the pleura
def: "A schwannoma that involves the pleura." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neurilemmoma of pleura" EXACT [NCIT:C5418]
synonym: "pleura schwannoma" EXACT [MONDO:patterns/location]
synonym: "pleural neurilemmoma" EXACT [NCIT:C5418]
synonym: "pleural schwannoma" EXACT [NCIT:C5418]
synonym: "schwannoma of pleura" EXACT [DOID:6564, NCIT:C5418]
synonym: "schwannoma of the pleura" EXACT [NCIT:C5418]
xref: DOID:6564 {source="MONDO:equivalentTo"}
xref: MEDGEN:233863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5418 {source="DOID:6564", source="MONDO:equivalentTo"}
xref: UMLS:C1335435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233863"}
is_a: MONDO:0004820 {source="DOID:6564", source="NCIT:C5418"} ! peripheral nerve schwannoma
intersection_of: MONDO:0002546 ! schwannoma
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0003927
name: posterior uveal melanoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "medium/large size posterior uveal melanoma" NARROW [DOID:6566]
synonym: "small size posterior uveal melanoma" NARROW [DOID:6566]
xref: DOID:6566 {source="MONDO:equivalentTo"}
xref: NCIT:C9089 {source="DOID:6566"}
xref: NCIT:C9090 {source="DOID:6566"}
is_a: MONDO:0006486 {source="DOID:6566"} ! uveal melanoma

[Term]
id: MONDO:0003928
name: uterine corpus myxoid leiomyosarcoma
def: "A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." [NCIT:C40175]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body of uterus myxoid leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "myxoid leiomyosarcoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus myxoid leiomyosarcoma" EXACT [NCIT:C40175]
synonym: "uterine myxoid leiomyosarcoma" RELATED [ONCOTREE:UMLMS]
xref: DOID:6567 {source="MONDO:equivalentTo"}
xref: MEDGEN:311426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40175 {source="DOID:6567", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:UMLMS {source="MONDO:equivalentTo"}
xref: UMLS:C1519861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:311426"}
is_a: MONDO:0003359 {source="DOID:6567", source="MONDO:Redundant", source="NCIT:C40175"} ! myxoid leiomyosarcoma
is_a: MONDO:0016262 {source="DOID:6567", source="MONDO:Redundant", source="NCIT:C40175"} ! leiomyosarcoma of the corpus uteri
intersection_of: MONDO:0003359 ! myxoid leiomyosarcoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0003929
name: vestibular micropapillomatosis
def: "A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva." [NCIT:C40290]
synonym: "micropapillomatosis labialis" EXACT [NCIT:C40290]
synonym: "vestibular micropapillomatosis" EXACT [NCIT:C40290]
xref: DOID:6569 {source="MONDO:equivalentTo"}
xref: MEDGEN:275589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40290 {source="DOID:6569", source="MONDO:equivalentTo"}
xref: UMLS:C1519982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275589"}
is_a: MONDO:0002194 {source="DOID:6569", source="NCIT:C40290"} ! vestibular papilloma

[Term]
id: MONDO:0003930
name: non-invasive bladder urothelial carcinoma
def: "Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "non-invasive bladder urothelial carcinoma" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial cancer" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial carcinoma" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial carcinoma aJCC v6" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial carcinoma aJCC v6 and v7" EXACT [NCIT:C6188]
synonym: "stage 0 bladder urothelial carcinoma aJCC v7" EXACT [NCIT:C6188]
synonym: "stage 0 transitional cell carcinoma of bladder" EXACT [NCIT:C6188]
synonym: "stage 0 transitional cell carcinoma of the bladder" EXACT [NCIT:C6188]
synonym: "stage 0 transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C6188]
synonym: "stage 0 transitional cell carcinoma of urinary bladder" EXACT [NCIT:C6188]
synonym: "stage 0 urinary bladder transitional cell carcinoma" EXACT [NCIT:C6188]
xref: DOID:6571 {source="MONDO:equivalentTo"}
xref: MEDGEN:233466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6188 {source="MONDO:equivalentTo"}
xref: UMLS:C1336089 {source="MEDGEN:233466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005611 {source="DOID:6571", source="NCIT:C6188"} ! bladder transitional cell carcinoma

[Term]
id: MONDO:0003931
name: childhood optic tract astrocytoma
def: "An astrocytoma that arises from the visual pathway and occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood optic tract astrocytoma" EXACT [NCIT:C7534]
synonym: "childhood visual pathway astrocytoma" EXACT [NCIT:C7534]
synonym: "optic tract astrocytoma of childhood" EXACT [MONDO:patterns/childhood]
synonym: "paediatric optic tract astrocytoma" EXACT OMO:0003005 []
synonym: "paediatric visual pathway astrocytoma" EXACT OMO:0003005 []
synonym: "pediatric optic tract astrocytoma" EXACT [MONDO:patterns/childhood, NCIT:C7534]
synonym: "pediatric visual pathway astrocytoma" EXACT [DOID:6575, NCIT:C7534]
xref: DOID:6575 {source="MONDO:equivalentTo"}
xref: MEDGEN:232072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7534 {source="DOID:6575", source="MONDO:equivalentTo"}
xref: UMLS:C1333014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232072"}
intersection_of: MONDO:0024649 ! optic tract astrocytoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0003234 {source="DOID:6575", source="https://orcid.org/0000-0001-5208-3432"} ! optic nerve astrocytoma
relationship: excluded_subClassOf MONDO:0003932 {source="NCIT:C7534", source="https://orcid.org/0000-0001-5208-3432"} ! childhood optic nerve glioma

[Term]
id: MONDO:0003932
name: childhood optic nerve glioma
def: "A glioma affecting the optic tract and occurring in childhood." [NCIT:C7535]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood optic tract glioma" EXACT [NCIT:C7535]
synonym: "childhood visual pathway glioma" EXACT [NCIT:C7535]
synonym: "glioma of childhood visual pathway" EXACT [NCIT:C7535]
synonym: "glioma of paediatric visual pathway" EXACT OMO:0003005 []
synonym: "glioma of pediatric visual pathway" EXACT [NCIT:C7535]
synonym: "glioma of the childhood visual pathway" EXACT [NCIT:C7535]
synonym: "glioma of the paediatric visual pathway" EXACT OMO:0003005 []
synonym: "glioma of the pediatric visual pathway" EXACT [DOID:6576, NCIT:C7535]
synonym: "optic nerve glioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric optic nerve glioma" EXACT OMO:0003005 []
synonym: "paediatric optic tract glioma" EXACT OMO:0003005 []
synonym: "paediatric visual pathway glioma" EXACT OMO:0003005 []
synonym: "pediatric optic nerve glioma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric optic tract glioma" EXACT [NCIT:C7535]
synonym: "pediatric visual pathway glioma" EXACT [NCIT:C7535]
synonym: "visual pathway and hypothalamic glioma, childhood" RELATED [GARD:0009309]
synonym: "visual pathway glioma" BROAD [NCIT:C7535]
xref: DOID:6576 {source="MONDO:equivalentTo"}
xref: MEDGEN:124487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020339 {source="DOID:6576"}
xref: NCIT:C7535 {source="DOID:6576", source="MONDO:equivalentTo"}
xref: UMLS:C0278653 {source="MEDGEN:124487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003235 {source="DOID:6576", source="MONDO:Redundant"} ! optic nerve glioma
is_a: MONDO:0016167 {source="MONDO:Redundant", source="NCIT:C7535"} ! optic pathway glioma
intersection_of: MONDO:0003235 ! optic nerve glioma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003933
name: chest wall bone cancer
def: "An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bone cancer of chest wall" EXACT [MONDO:design_pattern]
synonym: "chest wall bone cancer" EXACT [MONDO:patterns/location]
synonym: "malignant bone neoplasm of chest wall" RELATED [DOID:6579]
synonym: "malignant bone neoplasm of the chest wall" EXACT [NCIT:C6724]
synonym: "malignant bone tumor of chest wall" EXACT [NCIT:C6724]
synonym: "malignant bone tumor of the chest wall" EXACT [DOID:6579, NCIT:C6724]
synonym: "malignant bone tumour of chest wall" EXACT OMO:0003005 []
synonym: "malignant bone tumour of the chest wall" EXACT OMO:0003005 []
synonym: "malignant chest wall bone neoplasm" EXACT [NCIT:C6724]
synonym: "malignant chest wall bone tumor" EXACT [NCIT:C6724]
synonym: "malignant chest wall bone tumour" EXACT OMO:0003005 []
xref: DOID:6579 {source="MONDO:equivalentTo"}
xref: MEDGEN:233148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6724 {source="DOID:6579", source="MONDO:equivalentTo"}
xref: UMLS:C1334572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233148"}
is_a: MONDO:0002129 {source="DOID:6579", source="MONDO:Redundant", source="NCIT:C6724"} ! bone cancer
is_a: MONDO:0021323 {source="MONDO:Redundant", source="NCIT:C6724"} ! malignant neoplasm of chest wall
intersection_of: MONDO:0002129 ! bone cancer
intersection_of: disease_has_location UBERON:0016435 ! chest wall
relationship: excluded_subClassOf MONDO:0003985 {source="DOID:6579", source="https://orcid.org/0000-0001-5208-3432"} ! chest wall lymphoma

[Term]
id: MONDO:0003934
name: breast apocrine carcinoma
def: "An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles." [NCIT:C5141]
synonym: "apocrine adenocarcinoma of breast" EXACT [MONDO:design_pattern]
synonym: "apocrine breast carcinoma" EXACT [NCIT:C5141]
synonym: "apocrine carcinoma of breast" EXACT [DOID:6581, NCIT:C5141]
synonym: "apocrine carcinoma of the breast" EXACT [NCIT:C5141]
synonym: "breast apocrine adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "breast apocrine carcinoma" EXACT [DOID:6581, NCIT:C5141]
xref: DOID:6581 {source="MONDO:equivalentTo"}
xref: MEDGEN:272319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5141 {source="MONDO:equivalentTo", source="DOID:6581"}
xref: UMLS:C1332316 {source="MEDGEN:272319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003214 {source="DOID:6581", source="MONDO:Redundant", source="NCIT:C5141"} ! apocrine adenocarcinoma
is_a: MONDO:0004988 {source="DOID:6581", source="MONDO:Redundant", source="NCIT:C5141/inferred"} ! breast adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C5141"} ! breast ductal adenocarcinoma
intersection_of: MONDO:0003214 ! apocrine adenocarcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003935
name: oncocytic breast carcinoma
def: "A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population." [NCIT:C40366]
synonym: "oncocytic breast carcinoma" EXACT [NCIT:C40366]
xref: DOID:6585 {source="MONDO:equivalentTo"}
xref: MEDGEN:309476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40366 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6585"}
xref: UMLS:C1518574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309476"}
is_a: MONDO:0004988 {source="DOID:6585", source="NCIT:C40366"} ! breast adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C40366"} ! invasive breast carcinoma

[Term]
id: MONDO:0003936
name: invasive tubular breast carcinoma
def: "An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium." [NCIT:C9135]
synonym: "breast tubular adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "infiltrating tubular breast carcinoma" EXACT [NCIT:C9135]
synonym: "infiltrating tubular carcinoma of breast" EXACT [NCIT:C9135]
synonym: "infiltrating tubular carcinoma of the breast" EXACT [NCIT:C9135]
synonym: "invasive tubular breast carcinoma" EXACT [NCIT:C9135]
synonym: "invasive tubular carcinoma of breast" EXACT [DOID:6587, NCIT:C9135]
synonym: "invasive tubular carcinoma of the breast" EXACT [NCIT:C9135]
synonym: "tubular breast cancer" EXACT [NCIT:C9135]
synonym: "tubular breast carcinoma" EXACT [NCIT:C9135]
synonym: "tubular carcinoma of breast" EXACT [DOID:6587, NCIT:C9135]
synonym: "tubular carcinoma of the breast" EXACT [NCIT:C9135]
xref: DOID:6587 {source="MONDO:equivalentTo"}
xref: MEDGEN:230969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9135 {source="DOID:6587", source="MONDO:equivalentTo"}
xref: UMLS:C1328544 {source="MEDGEN:230969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004988 {source="DOID:6587", source="MONDO:Entailed", source="NCIT:C9135/inferred"} ! breast adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C9135"} ! breast ductal adenocarcinoma
is_a: MONDO:0005606 {source="DOID:6587", source="MONDO:Redundant", source="NCIT:C9135"} ! tubular adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C9135"} ! invasive breast carcinoma
intersection_of: MONDO:0005606 ! tubular adenocarcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0003937
name: spondylitis
def: "The inflammation of a vertebra." [NCIT:C116779]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of vertebra" EXACT []
synonym: "vertebra inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:6590 {source="MONDO:equivalentTo"}
xref: ICD10CM:M46 {source="DOID:6590"}
xref: ICD9:720.8 {source="DOID:6590"}
xref: ICD9:720.89 {source="DOID:6590"}
xref: MEDGEN:11560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013166 {source="MONDO:equivalentTo"}
xref: NCIT:C116779 {source="MONDO:equivalentObsolete"}
xref: SCTID:202651004 {source="DOID:6590"}
xref: SCTID:202653001 {source="DOID:6590"}
xref: SCTID:84172003 {source="MONDO:equivalentTo"}
xref: UMLS:C0038012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11560"}
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C116779"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002412 ! vertebra
relationship: excluded_subClassOf MONDO:0005095 {source="DOID:6590", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloarthropathy

[Term]
id: MONDO:0003938
name: bladder colonic type adenocarcinoma
synonym: "bladder colonic type adenocarcinoma" EXACT [NCIT:C39835]
synonym: "bladder enteric type adenocarcinoma" EXACT [NCIT:C39835]
xref: DOID:6594 {source="MONDO:equivalentTo"}
xref: MEDGEN:267371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39835 {source="MONDO:equivalentTo", source="DOID:6594"}
xref: UMLS:C1511188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267371"}
is_a: MONDO:0002751 {source="DOID:6594", source="NCIT:C39835"} ! bladder adenocarcinoma

[Term]
id: MONDO:0003939
name: muscle tissue disorder
def: "A disease involving the muscle tissue." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of muscle organ" EXACT [MONDO:patterns/location_top]
synonym: "disease of muscle tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of muscle organ" EXACT []
synonym: "disease or disorder of muscle tissue" EXACT []
synonym: "disorder of muscle organ" EXACT [MONDO:patterns/location_top]
synonym: "disorder of muscle tissue" EXACT [MONDO:patterns/location_top]
synonym: "muscle organ disease" EXACT [MONDO:patterns/location]
synonym: "muscle organ disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "muscle tissue disease" EXACT [MONDO:patterns/location]
synonym: "muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "muscular disorder" EXACT [MONDO:0005218]
xref: DOID:0080000 {source="EFO:0002970", source="MONDO:equivalentTo"}
xref: DOID:66 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: ICD10CM:G70-G73 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M60-M63 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D009135 {source="EFO:0002970", source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0002-6601-2165"} ! musculoskeletal system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002385 ! muscle tissue
relationship: excluded_subClassOf MONDO:0005172 {source="EFO:0002970", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0003940
name: Kummell disease
def: "A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury." [PMID:23814399]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "avascular necrosis of a vertebral body" EXACT [PMID:23814399]
synonym: "bony vertebral centrum osteonecrosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Kummell disease" EXACT [DOID:6603]
synonym: "Kummell's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Kummell's spondylitis" EXACT [DOID:6603]
synonym: "osteonecrosis of bony vertebral centrum" EXACT [MONDO:design_pattern]
synonym: "traumatic spondylopathy" EXACT [DOID:6603, ICD9CM:721.7]
xref: DOID:6603 {source="MONDO:equivalentTo"}
xref: ICD10CM:M48.3 {source="MONDO:equivalentTo", source="DOID:6603"}
xref: ICD9:721.7 {source="MONDO:equivalentTo", source="DOID:6603", source="MONDO:i2s"}
xref: MEDGEN:508880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111232005 {source="MONDO:equivalentTo", source="DOID:6603"}
xref: SCTID:156628006 {source="DOID:6603"}
xref: SCTID:202682000 {source="DOID:6603"}
xref: SCTID:240218006 {source="DOID:6603"}
xref: SCTID:268075001 {source="DOID:6603"}
xref: SCTID:65753008 {source="DOID:6603"}
xref: UMLS:C0152088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508880"}
is_a: MONDO:0005095 {source="DOID:6603"} ! spondyloarthropathy
intersection_of: MONDO:0005380 ! osteonecrosis
intersection_of: disease_has_location UBERON:0001075 ! bony vertebral centrum

[Term]
id: MONDO:0003941
name: classic variant of chromophobe renal cell carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "classic variant of chromophobe renal cell carcinoma" EXACT [NCIT:C27888]
xref: DOID:6605 {source="MONDO:equivalentTo"}
xref: MEDGEN:232080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27888 {source="MONDO:equivalentTo", source="DOID:6605", source="MONDO:exact-label-match"}
xref: UMLS:C1333062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232080"}
is_a: MONDO:0017885 {source="DOID:6605", source="NCIT:C27888"} ! chromophobe renal cell carcinoma

[Term]
id: MONDO:0003942
name: eosinophilic variant of chromophobe renal cell carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "eosinophilic variant of chromophobe renal cell carcinoma" EXACT [NCIT:C27889]
xref: DOID:6606 {source="MONDO:equivalentTo"}
xref: MEDGEN:232458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27889 {source="MONDO:equivalentTo", source="DOID:6606", source="MONDO:exact-label-match"}
xref: UMLS:C1333405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232458"}
is_a: MONDO:0017885 {source="DOID:6606", source="NCIT:C27889"} ! chromophobe renal cell carcinoma

[Term]
id: MONDO:0003943
name: central nervous system hibernoma
def: "A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system." [NCIT:C6997]
synonym: "central nervous system hibernoma" EXACT [MONDO:patterns/location, NCIT:C6997]
synonym: "hibernoma of central nervous system" EXACT [NCIT:C6997]
synonym: "hibernoma of nervous system" EXACT [DOID:6607]
synonym: "hibernoma of the central nervous system" EXACT [NCIT:C6997]
synonym: "nervous system hibernoma" RELATED [DOID:6607]
xref: DOID:6607 {source="MONDO:equivalentTo"}
xref: MEDGEN:317749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6997 {source="MONDO:equivalentTo"}
xref: UMLS:C1708362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:317749"}
is_a: MONDO:0003844 {source="MONDO:Redundant", source="NCIT:C6997"} ! central nervous system lipoma
is_a: MONDO:0021168 {source="MONDO:Redundant", source="NCIT:C6997"} ! hibernoma
intersection_of: MONDO:0021168 ! hibernoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0003944
name: endobronchial leiomyoma
def: "A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5661]
synonym: "bronchus lung leiomyoma" EXACT [MONDO:patterns/location]
synonym: "endobronchial leiomyoma" EXACT [NCIT:C5661]
synonym: "lung leiomyoma of bronchus" EXACT [MONDO:design_pattern]
xref: DOID:6608 {source="MONDO:equivalentTo"}
xref: MEDGEN:232455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5661 {source="MONDO:equivalentTo", source="DOID:6608", source="MONDO:exact-label-match"}
xref: UMLS:C1333386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232455"}
is_a: MONDO:0003293 {source="DOID:6608", source="MONDO:Redundant", source="NCIT:C5661"} ! lung leiomyoma
intersection_of: MONDO:0003293 {source="NCIT:C5661"} ! lung leiomyoma
intersection_of: disease_has_location UBERON:0002185 {source="NCIT:C5661"} ! bronchus

[Term]
id: MONDO:0003945
name: bone epithelioid hemangioma
def: "A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells." [NCIT:C5396]
comment: Editor note: DO classifies this as benign
subset: inferred_rare
subset: rare
synonym: "bone epithelioid angioma" EXACT [NCIT:C5396]
synonym: "bone epithelioid hemangioma" EXACT [NCIT:C5396]
synonym: "bone hemangioma" BROAD [DOID:6610]
synonym: "epithelioid angioma of bone" EXACT [NCIT:C5396]
synonym: "epithelioid angioma of the bone" EXACT [NCIT:C5396]
synonym: "epithelioid hemangioma of bone" EXACT [NCIT:C5396]
synonym: "epithelioid hemangioma of the bone" EXACT [NCIT:C5396]
synonym: "hemangioma of bone" EXACT [DOID:6610]
synonym: "osseous epithelioid angioma" EXACT [NCIT:C5396]
synonym: "osseous epithelioid hemangioma" EXACT [DOID:6610, NCIT:C5396]
synonym: "osseous hemangioma" EXACT [DOID:6610, NCIT:C6477]
xref: DOID:6610 {source="MONDO:equivalentTo"}
xref: MEDGEN:231951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5396 {source="DOID:6610", source="MONDO:equivalentTo"}
xref: NCIT:C6477 {source="DOID:6610"}
xref: UMLS:C1332575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231951"}
is_a: MONDO:0021169 {source="MONDO:Redundant", source="NCIT:C5396"} ! epithelioid hemangioma
intersection_of: MONDO:0021169 ! epithelioid hemangioma
intersection_of: disease_arises_from_structure UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0003946
name: vaginal villous adenoma
def: "An adenoma that arises from the vagina and is characterized by a villous architectural pattern." [NCIT:C40259]
synonym: "vagina villous adenoma" EXACT [MONDO:patterns/location]
synonym: "vaginal villous adenoma" EXACT [NCIT:C40259]
xref: DOID:6613 {source="MONDO:equivalentTo"}
xref: MEDGEN:275577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40259 {source="DOID:6613", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275577"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C40259"} ! villous adenoma
is_a: MONDO:0003434 {source="DOID:6613", source="MONDO:Redundant", source="NCIT:C40259"} ! vaginal adenoma
intersection_of: MONDO:0000502 ! villous adenoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0003947
name: hyper-IgM syndrome
def: "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Hyper_IgM_syndrome]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperimmunoglobulin M syndrome" RELATED [NCIT:C3990]
synonym: "immunodeficiency with hyper-IgM" EXACT [MONDO:0000047, NCIT:C84783]
xref: DOID:0080544 {source="MONDO:equivalentTo"}
xref: ICD9:279.05 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:124420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053306 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: NANDO:1200345 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200718 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3990 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C84783 {source="MONDO:equivalentTo"}
xref: OMIMPS:308230 {source="MONDO:equivalentTo"}
xref: SCTID:82286005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272236 {source="MEDGEN:124420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002468 {source="NCIT:C3990", source="https://orcid.org/0000-0002-6601-2165"} ! hyperimmunoglobulin syndrome
intersection_of: MONDO:0003778 ! inborn error of immunity
intersection_of: disease_disrupts GO:0023035 ! CD40 signaling pathway
relationship: disease_has_feature HP:0002721 ! Immunodeficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:308230"} ! inherited

[Term]
id: MONDO:0003948
name: cerebral hemangioma
def: "A hemangioma arising from the cerebral hemisphere." [NCIT:C5433]
synonym: "angioma of cerebral hemispheres" EXACT [NCIT:C5433]
synonym: "angioma of cerebrum" EXACT [NCIT:C5433]
synonym: "angioma of the cerebral hemispheres" EXACT [NCIT:C5433]
synonym: "angioma of the cerebrum" EXACT [NCIT:C5433]
synonym: "cerebral angioma" EXACT [NCIT:C5433]
synonym: "cerebral hemangioma" EXACT [NCIT:C5433]
synonym: "cerebral hemispheric angioma" EXACT [NCIT:C5433]
synonym: "cerebral hemispheric hemangioma" EXACT [NCIT:C5433]
synonym: "hemangioma of cerebral hemispheres" EXACT [NCIT:C5433]
synonym: "hemangioma of cerebrum" EXACT [DOID:6621, NCIT:C5433]
synonym: "hemangioma of telencephalon" EXACT [MONDO:design_pattern]
synonym: "hemangioma of the cerebral hemispheres" EXACT [NCIT:C5433]
synonym: "hemangioma of the cerebrum" EXACT [NCIT:C5433]
synonym: "telencephalon hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:6621 {source="MONDO:equivalentTo"}
xref: MEDGEN:164084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5433 {source="DOID:6621", source="MONDO:equivalentTo"}
xref: UMLS:C0877388 {source="MEDGEN:164084", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003428 {source="DOID:6621", source="NCIT:C5433"} ! brain hemangioma
is_a: MONDO:0021497 {source="MONDO:Redundant", source="NCIT:C5433"} ! benign neoplasm of cerebrum
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0001893 ! telencephalon

[Term]
id: MONDO:0003949
name: obsolete cervical adenoma malignum
is_obsolete: true
replaced_by: MONDO:0006140

[Term]
id: MONDO:0003950
name: nipple carcinoma
def: "A carcinoma that arises from epithelial cells of the nipple" [https://orcid.org/0000-0002-6601-2165]
synonym: "carcinoma of nipple" EXACT [MONDO:patterns/carcinoma]
synonym: "nipple cancer" EXACT [NCIT:C28432]
synonym: "nipple carcinoma" EXACT [MONDO:patterns/location, NCIT:C28432]
xref: DOID:6629 {source="MONDO:equivalentTo"}
xref: MEDGEN:233756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C28432 {source="MONDO:equivalentTo", source="DOID:6629", source="MONDO:exact-label-match"}
xref: UMLS:C1334966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233756"}
is_a: MONDO:0002482 {source="MONDO:Redundant", source="NCIT:C28432/inferred"} ! nipple neoplasm
is_a: MONDO:0004989 {source="DOID:6629", source="MONDO:Redundant", source="NCIT:C28432"} ! breast carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002030 ! nipple

[Term]
id: MONDO:0003951
name: scrotal hemangioma
def: "A hemangioma arising from the skin of the scrotum." [NCIT:C6387]
synonym: "angioma of scrotum" EXACT [NCIT:C6387]
synonym: "angioma of the scrotum" EXACT [NCIT:C6387]
synonym: "hemangioma of scrotum" EXACT [DOID:663, NCIT:C6387]
synonym: "hemangioma of the scrotum" EXACT [NCIT:C6387]
synonym: "scrotal angioma" EXACT [NCIT:C6387]
synonym: "scrotal hemangioma" EXACT [NCIT:C6387]
synonym: "scrotum hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:663 {source="MONDO:equivalentTo"}
xref: MEDGEN:235583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6387 {source="MONDO:equivalentTo", source="DOID:663"}
xref: UMLS:C1335936 {source="MEDGEN:235583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003110 {source="DOID:663", source="NCIT:C6387"} ! skin hemangioma
is_a: MONDO:0021472 {source="MONDO:Redundant", source="NCIT:C6387"} ! benign neoplasm of scrotum
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0003952
name: adult central nervous system choriocarcinoma
def: "A choriocarcinoma of the central nervous system that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adult central nervous system choriocarcinoma" EXACT [NCIT:C5793]
synonym: "adult choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern]
synonym: "adult CNS choriocarcinoma" EXACT [NCIT:C5793]
synonym: "central nervous system choriocarcinoma" BROAD [NCIT:C5793]
synonym: "choriocarcinoma of adult central nervous system" EXACT [NCIT:C5793]
synonym: "choriocarcinoma of adult CNS" EXACT [NCIT:C5793]
synonym: "choriocarcinoma of the adult central nervous system" EXACT [DOID:6634, NCIT:C5793]
synonym: "choriocarcinoma of the adult CNS" EXACT [NCIT:C5793]
synonym: "choriocarcinoma of the central nervous system of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6634 {source="MONDO:equivalentTo"}
xref: MEDGEN:234582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5793 {source="DOID:6634", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1370505 {source="MEDGEN:234582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003405 {source="MONDO:Redundant", source="NCIT:C5793"} ! adult central nervous system germ cell tumor
is_a: MONDO:0005207 {source="DOID:6634", source="MONDO:Redundant", source="NCIT:C5793/inferred"} ! choriocarcinoma
is_a: MONDO:0016740 {source="MONDO:Redundant", source="NCIT:C5793"} ! choriocarcinoma of the central nervous system
intersection_of: MONDO:0016740 ! choriocarcinoma of the central nervous system
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003953
name: pediatric CNS choriocarcinoma
def: "A choriocarcinoma that arises from the central nervous system and occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Central nervous system choriocarcinoma" EXACT [NCIT:C6206]
synonym: "childhood central nervous system choriocarcinoma" EXACT [NCIT:C6206]
synonym: "childhood choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern]
synonym: "childhood CNS choriocarcinoma" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of childhood central nervous system" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of childhood CNS" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of paediatric central nervous system" EXACT OMO:0003005 []
synonym: "choriocarcinoma of paediatric CNS" EXACT OMO:0003005 []
synonym: "choriocarcinoma of pediatric central nervous system" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of pediatric CNS" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of the central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "choriocarcinoma of the childhood central nervous system" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of the childhood CNS" EXACT [NCIT:C6206]
synonym: "choriocarcinoma of the paediatric central nervous system" EXACT OMO:0003005 []
synonym: "choriocarcinoma of the paediatric CNS" EXACT OMO:0003005 []
synonym: "choriocarcinoma of the pediatric central nervous system" EXACT [DOID:6639, NCIT:C6206]
synonym: "choriocarcinoma of the pediatric CNS" EXACT [NCIT:C6206]
synonym: "paediatric central nervous system choriocarcinoma" EXACT OMO:0003005 []
synonym: "paediatric choriocarcinoma of the central nervous system" EXACT OMO:0003005 []
synonym: "pediatric central nervous system choriocarcinoma" EXACT [NCIT:C6206]
synonym: "pediatric choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:6639 {source="MONDO:equivalentTo"}
xref: MEDGEN:234603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6206 {source="MONDO:equivalentTo", source="DOID:6639"}
xref: UMLS:C1377604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234603"}
is_a: MONDO:0003750 {source="DOID:6639", source="MONDO:Redundant", source="NCIT:C6206"} ! childhood central nervous system germ cell tumor
intersection_of: MONDO:0016740 ! choriocarcinoma of the central nervous system
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003954
name: angiokeratoma of Fordyce
def: "An angiokeratoma that is located on the scrotum or vulva." [http://www.patientcareonline.com/skin-diseases/fordyce-angiokeratoma]
synonym: "Fordyce angiokeratoma" EXACT [DOID:664]
synonym: "Fordyce's spot" EXACT [DOID:664]
synonym: "Fordyce-type angiokeratoma of scrotum" NARROW [DOID:664]
xref: DOID:664 {source="MONDO:equivalentTo"}
xref: MEDGEN:75529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7752 {source="DOID:664"}
xref: SCTID:238747004 {source="DOID:664"}
xref: SCTID:254789007 {source="DOID:664"}
xref: SCTID:6331000 {source="MONDO:equivalentTo", source="DOID:664"}
xref: UMLS:C0263639 {source="MEDGEN:75529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002531 {source="DOID:664", source="MONDO:Redundant"} ! skin neoplasm
is_a: MONDO:0003143 {source="https://orcid.org/0000-0001-5208-3432"} ! angiokeratoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7169" xsd:anyURI

[Term]
id: MONDO:0003955
name: juvenile breast papillomatosis
def: "A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present." [NCIT:C9503]
synonym: "breast juvenile papillomatosis" RELATED [DOID:6641]
synonym: "juvenile breast papillomatosis" EXACT [NCIT:C9503]
synonym: "juvenile papillomatosis of breast" EXACT [NCIT:C9503]
synonym: "juvenile papillomatosis of the breast" EXACT [DOID:6641, NCIT:C9503]
synonym: "Swiss cheese disease" EXACT [NCIT:C9503]
xref: DOID:6641 {source="MONDO:equivalentTo"}
xref: MEDGEN:233588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9503 {source="DOID:6641", source="MONDO:equivalentTo"}
xref: SCTID:708518001 {source="DOID:6641", source="MONDO:equivalentTo"}
xref: UMLS:C1334303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233588"}
is_a: MONDO:0004253 {source="NCIT:C9503", source="https://orcid.org/0000-0001-5208-3432"} ! intraductal breast papillomatosis
intersection_of: MONDO:0004253 ! intraductal breast papillomatosis
intersection_of: has_characteristic HP:0003621 ! Juvenile onset
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6930" xsd:anyURI

[Term]
id: MONDO:0003956
name: Baastrup syndrome
synonym: "Baastrup syndrome" EXACT [DOID:6643]
synonym: "Baastrup's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "kissing spine" EXACT [DOID:6643, ICD9CM:721.5]
xref: DOID:6643 {source="MONDO:equivalentTo"}
xref: ICD10CM:M48.2 {source="DOID:6643"}
xref: ICD10CM:M48.20 {source="DOID:6643"}
xref: ICD9:721.5 {source="DOID:6643", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:202681007 {source="DOID:6643"}
xref: SCTID:82304009 {source="DOID:6643", source="MONDO:equivalentTo"}
xref: UMLS:C0158248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510482"}
is_a: MONDO:0000812 ! vertebral column disorder
is_a: MONDO:0005381 {source="DOID:6643/inferred"} ! bone disorder
relationship: excluded_subClassOf MONDO:0005095 {source="DOID:6643", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloarthropathy

[Term]
id: MONDO:0003957
name: adult pineoblastoma
def: "A pineoblastoma occurring in adults." [NCIT:C8292]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adult pineoblastoma" EXACT [NCIT:C8292]
synonym: "pineoblastoma" BROAD [NCIT:C8292]
synonym: "pineoblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6648 {source="MONDO:equivalentTo"}
xref: MEDGEN:83794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8292 {source="DOID:6648", source="MONDO:equivalentTo"}
xref: UMLS:C0281332 {source="MEDGEN:83794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003248 {source="DOID:6648", source="NCIT:C8292"} ! adult pineal parenchymal tumor
is_a: MONDO:0016722 {source="MONDO:Redundant", source="NCIT:C8292"} ! pineoblastoma
intersection_of: MONDO:0016722 ! pineoblastoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0003958
name: childhood central nervous system immature teratoma
def: "An immature teratoma that arises from the central nervous system and occurs during childhood." [NCIT:C27405]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system immature teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood central nervous system immature teratoma" EXACT [NCIT:C27405]
synonym: "paediatric central nervous system immature teratoma" EXACT OMO:0003005 []
synonym: "pediatric central nervous system immature teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:6654 {source="MONDO:equivalentTo"}
xref: MEDGEN:232344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27405 {source="DOID:6654", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332954 {source="MEDGEN:232344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003735 {source="DOID:6654", source="MONDO:Redundant", source="NCIT:C27405"} ! central nervous system immature teratoma
intersection_of: MONDO:0003735 ! central nervous system immature teratoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003959
name: breast large cell neuroendocrine carcinoma
def: "A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity." [NCIT:C40356]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location, NCIT:C40356]
synonym: "large cell neuroendocrine carcinoma of breast" EXACT [MONDO:design_pattern]
xref: DOID:6657 {source="MONDO:equivalentTo"}
xref: MEDGEN:307310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40356 {source="DOID:6657", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1511316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307310"}
is_a: MONDO:0002485 {source="MONDO:Redundant", source="NCIT:C40356"} ! breast neuroendocrine neoplasm
is_a: MONDO:0004989 {source="DOID:6657", source="MONDO:Redundant", source="NCIT:C40356/inferred"} ! breast carcinoma
is_a: MONDO:0005057 {source="DOID:6657", source="MONDO:Redundant", source="NCIT:C40356"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0006256 {source="NCIT:C40356"} ! invasive breast carcinoma
intersection_of: MONDO:0005057 ! large cell neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0003960
name: pulmonary large cell neuroendocrine carcinoma
def: "A large cell neuroendocrine carcinoma that involves the lung(s)." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "large cell lung carcinoma with neuroendocrine differentiation" EXACT [NCIT:C5672]
synonym: "large cell lung neuroendocrine carcinoma" EXACT [NCIT:C5672]
synonym: "large cell neuroendocrine carcinoma of lung" EXACT [NCIT:C5672]
synonym: "large cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C5672]
synonym: "LCNEC of the lung" EXACT [NCIT:C5672]
synonym: "lung large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location]
synonym: "pulmonary large cell neuroendocrine carcinoma" EXACT [NCIT:C5672]
xref: DOID:6658 {source="MONDO:equivalentTo"}
xref: MEDGEN:233608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5672 {source="MONDO:equivalentTo", source="DOID:6658"}
xref: NCIT:C6875 {source="DOID:6658"}
xref: SCTID:128628002 {source="DOID:6658"}
xref: UMLS:C1334363 {source="MEDGEN:233608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003050 {source="DOID:6658", source="MONDO:Redundant", source="NCIT:C5672"} ! lung large cell carcinoma
is_a: MONDO:0005057 {source="MONDO:Redundant", source="NCIT:C5672"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C5672/inferred"} ! lung neuroendocrine neoplasm
intersection_of: MONDO:0005057 ! large cell neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003961
name: obsolete cervical large cell neuroendocrine carcinoma
is_obsolete: true
replaced_by: MONDO:0006138

[Term]
id: MONDO:0003962
name: Froelich syndrome
def: "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today." [https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome]
synonym: "Adiposodysgenesis" RELATED [GARD:0006463]
synonym: "adiposogenital dystrophy" RELATED [GARD:0006463]
synonym: "adiposogenital syndrome" EXACT [DOID:6676]
synonym: "Babinski-Froelich syndrome" EXACT [DOID:6676]
synonym: "dystrophia Adiposogenitalis" EXACT [NCIT:C34625]
synonym: "Froehlich syndrome" EXACT [DOID:6676]
synonym: "Froehlich's syndrome" EXACT [DOID:6676]
synonym: "Froelich's adiposity" RELATED [GARD:0006463]
synonym: "Froelich's syndrome" EXACT [DOID:6676]
synonym: "Frohlich syndrome" EXACT [NCIT:C34625]
synonym: "Frohlich's syndrome" EXACT [NCIT:C34625]
synonym: "Frolich's syndrome" EXACT [NCIT:C34625]
synonym: "Fröhlich syndrome" EXACT [NCIT:C34625]
synonym: "hypothalamic infantilism-obesity" EXACT [NCIT:C34625]
synonym: "Launois-Cleret syndrome" EXACT [NCIT:C34625]
synonym: "sexual infantilism" EXACT [NCIT:C34625]
xref: DOID:6676 {source="MONDO:equivalentTo"}
xref: ICD10CM:E23.6 {source="DOID:6676"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007027 {source="DOID:6676"}
xref: NCIT:C34625 {source="DOID:6676", source="MONDO:equivalentTo"}
xref: SCTID:62999006 {source="DOID:6676", source="MONDO:equivalentTo"}
xref: UMLS:C0016724 {source="MEDGEN:4795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002150 {source="DOID:6676"} ! hypothalamic disorder
is_a: MONDO:0002254 {source="NCIT:C34625"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome" xsd:anyURI {source="GARD:0006463"}

[Term]
id: MONDO:0003963
name: diffuse infiltrative lymphocytosis syndrome
def: "This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs." [NCIT:P378]
synonym: "diffuse infiltra. lymph. sydrome" EXACT [NCIT:C35699]
synonym: "diffuse infiltra. lymph. syndrome" EXACT [NCIT:C35699]
xref: DOID:6677 {source="MONDO:equivalentTo"}
xref: MEDGEN:232428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35699 {source="DOID:6677", source="MONDO:equivalentTo"}
xref: SCTID:449784008 {source="DOID:6677", source="MONDO:equivalentTo"}
xref: UMLS:C1333292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232428"}
is_a: MONDO:0002254 {source="DOID:6677", source="NCIT:C35699"} ! syndromic disease

[Term]
id: MONDO:0003964
name: myositis ossificans
def: "A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fibrodysplasia ossificans progressiva" RELATED [MESH:D009221]
synonym: "FOP" EXACT ABBREVIATION [MESH:D009221]
synonym: "Myisitis ossificans" EXACT [DOID:668]
synonym: "myositis ossificans progressiva" EXACT [MESH:D009221]
synonym: "ossification - muscle" EXACT [DOID:668]
synonym: "progressive myositis ossificans" NARROW [MESH:D009221]
synonym: "progressive ossifying myositis" NARROW [MESH:D009221]
xref: DOID:668 {source="MONDO:equivalentTo"}
xref: MEDGEN:6503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009221 {source="DOID:668", source="MONDO:equivalentTo"}
xref: NANDO:1200871 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201020 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3253 {source="DOID:668", source="MONDO:equivalentTo"}
xref: SCTID:156720008 {source="DOID:668"}
xref: SCTID:203030008 {source="DOID:668"}
xref: SCTID:44551007 {source="DOID:668"}
xref: UMLS:C0027122 {source="MEDGEN:6503", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021167 {source="DOID:668", source="MESH:D009221", source="NCIT:C3253"} ! myositis disease

[Term]
id: MONDO:0003965
name: Capgras syndrome
def: "A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all." [NCIT:P378]
synonym: "Capgras delusion theory" EXACT [DOID:6680]
xref: DOID:6680 {source="MONDO:equivalentTo"}
xref: MEDGEN:2811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002194 {source="MONDO:equivalentTo", source="DOID:6680"}
xref: NCIT:C34446 {source="MONDO:equivalentTo", source="DOID:6680"}
xref: SCTID:44906001 {source="DOID:6680"}
xref: UMLS:C0006895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2811"}
is_a: MONDO:0002254 {source="NCIT:C34446"} ! syndromic disease
is_a: MONDO:0004359 {source="DOID:6680"} ! delusional disorder

[Term]
id: MONDO:0003966
name: testicular monophasic choriocarcinoma
def: "A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:6693 {source="MONDO:equivalentTo"}
xref: MEDGEN:272841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39935 {source="MONDO:equivalentTo", source="DOID:6693"}
xref: UMLS:C1515290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272841"}
is_a: MONDO:0003508 {source="DOID:6693", source="NCIT:C39935"} ! choriocarcinoma of testis

[Term]
id: MONDO:0003967
name: synchronous multifocal osteogenic sarcoma
def: "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis." [NCIT:P378]
synonym: "synchronous multifocal osteosarcoma" EXACT [NCIT:C6471]
xref: DOID:6696 {source="MONDO:equivalentTo"}
xref: MEDGEN:236965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6471 {source="DOID:6696", source="MONDO:equivalentTo"}
xref: UMLS:C1336544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236965"}
is_a: MONDO:0002622 {source="DOID:6696", source="NCIT:C6471"} ! multifocal osteogenic sarcoma

[Term]
id: MONDO:0003968
name: asynchronous multifocal osteogenic sarcoma
def: "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas." [NCIT:P378]
synonym: "asynchronous multifocal osteosarcoma" EXACT [NCIT:C6472]
xref: DOID:6697 {source="MONDO:equivalentTo"}
xref: MEDGEN:231083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6472 {source="DOID:6697", source="MONDO:equivalentTo"}
xref: UMLS:C1332342 {source="MEDGEN:231083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002622 {source="DOID:6697", source="NCIT:C6472"} ! multifocal osteogenic sarcoma

[Term]
id: MONDO:0003969
name: amphetamine abuse
def: "Disorders related or resulting from use of amphetamines." [MESH:D019969]
xref: DOID:670 {source="MONDO:equivalentTo"}
xref: ICD9:305.7 {source="DOID:670"}
xref: ICD9:305.70 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019969 {source="MONDO:equivalentTo"}
xref: SCTID:84758004 {source="MONDO:equivalentTo"}
xref: UMLS:C0236807 {source="MEDGEN:66744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002491 {source="DOID:670", source="MONDO:Redundant"} ! substance abuse
intersection_of: MONDO:0002491 ! substance abuse
intersection_of: realized_in_response_to_stimulus CHEBI:2679 ! amphetamine

[Term]
id: MONDO:0003970
name: gastric fundus carcinoma
def: "A carcinoma that arises from epithelial cells of the fundus of stomach." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of fundus of stomach" BROAD [DOID:6700, NCIT:C8398]
synonym: "cancer of gastric fundus" BROAD [NCIT:C8398]
synonym: "cancer of the fundus of the stomach" BROAD [NCIT:C8398]
synonym: "cancer of the gastric fundus" BROAD [NCIT:C8398]
synonym: "carcinoma of fundus of stomach" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of gastric fundus" EXACT [NCIT:C8398]
synonym: "carcinoma of the fundus of the stomach" EXACT [NCIT:C8398]
synonym: "carcinoma of the gastric fundus" EXACT [NCIT:C8398]
synonym: "fundus of stomach carcinoma" EXACT [MONDO:patterns/location]
synonym: "gastric fundus (stomach) cancer" BROAD [NCIT:C8398]
synonym: "gastric fundus cancer" EXACT [NCIT:C8398]
xref: DOID:6700 {source="MONDO:equivalentTo"}
xref: MEDGEN:87514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8398 {source="DOID:6700", source="MONDO:equivalentTo"}
xref: SCTID:254555008 {source="DOID:6700", source="MONDO:equivalentTo"}
xref: UMLS:C0345799 {source="MEDGEN:87514", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004950 {source="DOID:6700", source="MONDO:Redundant", source="NCIT:C8398"} ! gastric carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001160 ! fundus of stomach

[Term]
id: MONDO:0003971
name: gastric pylorus carcinoma
def: "A carcinoma that arises from the pylorus." [NCIT:C6795]
synonym: "cancer of gastric pylorus" EXACT [NCIT:C6795]
synonym: "cancer of pylorus of stomach" EXACT [NCIT:C6795]
synonym: "cancer of the gastric pylorus" EXACT [NCIT:C6795]
synonym: "cancer of the pylorus of the stomach" EXACT [NCIT:C6795]
synonym: "carcinoma of gastric pylorus" EXACT [NCIT:C6795]
synonym: "carcinoma of pylorus of stomach" EXACT [DOID:6703, NCIT:C6795]
synonym: "carcinoma of the gastric pylorus" EXACT [NCIT:C6795]
synonym: "carcinoma of the pylorus of the stomach" EXACT [NCIT:C6795]
synonym: "gastric pylorus (stomach) cancer" EXACT [NCIT:C6795]
synonym: "gastric pylorus cancer" EXACT [NCIT:C6795]
synonym: "gastric pylorus carcinoma" EXACT [NCIT:C6795]
xref: DOID:6703 {source="MONDO:equivalentTo"}
xref: MEDGEN:234301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6795 {source="DOID:6703", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333787 {source="MONDO:equivalentTo", source="MEDGEN:234301", source="MONDO:MEDGEN"}
is_a: MONDO:0004950 {source="DOID:6703", source="NCIT:C6795"} ! gastric carcinoma

[Term]
id: MONDO:0003972
name: gastric body carcinoma
def: "A carcinoma that arises from epithelial cells of the body of stomach." [https://orcid.org/0000-0002-6601-2165]
synonym: "body of stomach carcinoma" EXACT [MONDO:patterns/location]
synonym: "cancer of body of stomach" EXACT [DOID:6705, NCIT:C8399]
synonym: "cancer of gastric body" EXACT [NCIT:C8399]
synonym: "cancer of the body of the stomach" EXACT [NCIT:C8399]
synonym: "cancer of the gastric body" EXACT [NCIT:C8399]
synonym: "carcinoma of body of stomach" EXACT [MONDO:patterns/carcinoma, NCIT:C8399]
synonym: "carcinoma of gastric body" EXACT [NCIT:C8399]
synonym: "carcinoma of the body of the stomach" EXACT [NCIT:C8399]
synonym: "carcinoma of the gastric body" EXACT [NCIT:C8399]
synonym: "gastric body (stomach) cancer" EXACT [NCIT:C8399]
synonym: "gastric body cancer" EXACT [NCIT:C8399]
synonym: "gastric body carcinoma" EXACT [NCIT:C8399]
xref: DOID:6705 {source="MONDO:equivalentTo"}
xref: MEDGEN:87515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8399 {source="MONDO:equivalentTo", source="DOID:6705", source="MONDO:exact-label-match"}
xref: SCTID:254557000 {source="MONDO:equivalentTo", source="DOID:6705"}
xref: UMLS:C0345804 {source="MEDGEN:87515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004950 {source="DOID:6705", source="MONDO:Redundant", source="NCIT:C8399"} ! gastric carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001161 ! body of stomach

[Term]
id: MONDO:0003973
name: tubular variant testicular seminoma
def: "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular seminoma, tubular variant" EXACT [NCIT:C40959]
xref: DOID:6706 {source="MONDO:equivalentTo"}
xref: MEDGEN:308259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40959 {source="MONDO:equivalentTo", source="DOID:6706"}
xref: UMLS:C1515294 {source="MEDGEN:308259", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003669 {source="DOID:6706", source="NCIT:C40959"} ! testicular seminoma

[Term]
id: MONDO:0003974
name: obsolete malignant triton tumor
is_obsolete: true
replaced_by: MONDO:0016757

[Term]
id: MONDO:0003975
name: Littre gland carcinoma
def: "A carcinoma involving a male urethral gland." [MONDO:patterns/carcinoma]
synonym: "carcinoma of LittrC) glands" EXACT [NCIT:C39865]
synonym: "carcinoma of Littre glands" EXACT [NCIT:C39865]
synonym: "carcinoma of Littré glands" EXACT [NCIT:C39865]
synonym: "carcinoma of male urethral gland" EXACT [MONDO:patterns/carcinoma]
synonym: "male urethral gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6721 {source="MONDO:equivalentTo"}
xref: MEDGEN:273092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39865 {source="DOID:6721", source="MONDO:equivalentTo"}
xref: UMLS:C1516285 {source="MEDGEN:273092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004197 {source="MONDO:Redundant", source="NCIT:C39865"} ! male urethral cancer
is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C39865/inferred"} ! carcinoma of urethra
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0010186 ! male urethral gland
relationship: excluded_subClassOf MONDO:0005836 {source="DOID:6721", source="https://orcid.org/0000-0001-5208-3432"} ! male reproductive organ cancer

[Term]
id: MONDO:0003976
name: malignant type AB thymoma
def: "A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." [NCIT:C6886]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "malignant thymoma type AB" EXACT []
synonym: "malignant type AB thymoma" EXACT [NCIT:C6886]
synonym: "thymoma type AB, malignant" EXACT [MONDO:patterns/malignant]
synonym: "thymoma, mixed type, malignant" EXACT [DOID:6723]
xref: DOID:6723 {source="MONDO:equivalentTo"}
xref: ICDO:8582/3 {source="NCIT:C6886"}
xref: MEDGEN:224760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6886 {source="DOID:6723", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:128710005 {source="DOID:6723"}
xref: UMLS:C1266093 {source="MEDGEN:224760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016975 {source="DOID:6723", source="MONDO:Redundant", source="NCIT:C6886"} ! thymoma type AB
intersection_of: MONDO:0016975 ! thymoma type AB
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0003977
name: obsolete fibrillary astrocytoma
is_obsolete: true
replaced_by: MONDO:0016688

[Term]
id: MONDO:0003978
name: colon small cell neuroendocrine carcinoma
def: "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells." [NCIT:C6761]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colon Oat cell carcinoma" EXACT [NCIT:C6761]
synonym: "colon small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6761]
synonym: "colon small cell neuroendocrine cancer" EXACT [NCIT:C6761]
synonym: "colon small cell neuroendocrine carcinoma" EXACT [NCIT:C6761]
synonym: "colonic Oat cell carcinoma" EXACT [NCIT:C6761]
synonym: "colonic small cell carcinoma" EXACT [DOID:6727, NCIT:C6761]
synonym: "Oat cell carcinoma of colon" EXACT [NCIT:C6761]
synonym: "Oat cell carcinoma of the colon" EXACT [NCIT:C6761]
synonym: "Oat cell colon carcinoma" EXACT [NCIT:C6761]
synonym: "small cell carcinoma of colon" EXACT [NCIT:C6761]
synonym: "small cell carcinoma of the colon" EXACT [NCIT:C6761]
synonym: "small cell colon carcinoma" EXACT [NCIT:C6761]
xref: DOID:6727 {source="MONDO:equivalentTo"}
xref: MEDGEN:232087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6761 {source="MONDO:equivalentTo", source="DOID:6727"}
xref: UMLS:C1333099 {source="MEDGEN:232087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="DOID:6727", source="MONDO:Redundant", source="NCIT:C6761/inferred"} ! small cell carcinoma
is_a: MONDO:0002032 {source="DOID:6727", source="MONDO:Redundant", source="NCIT:C6761"} ! colon carcinoma
is_a: MONDO:0002882 {source="MONDO:Redundant", source="NCIT:C6761"} ! colon neuroendocrine neoplasm
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0003979
name: intrahepatic bile duct cystadenoma
def: "A mucinous cystic neoplasm that arises from the intrahepatic bile ducts." [NCIT:P378]
synonym: "cystadenoma of the intrahepatic bile duct" EXACT [DOID:6733, NCIT:C7127]
synonym: "intrahepatic bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C96835]
synonym: "intrahepatic bile duct mucinous cystic neoplasm" EXACT [NCIT:C96835]
xref: DOID:6733 {source="MONDO:equivalentTo"}
xref: MEDGEN:235226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96835 {source="DOID:6733", source="MONDO:equivalentTo"}
xref: UMLS:C1334257 {source="MEDGEN:235226", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003420 {source="DOID:6733", source="MONDO:Redundant", source="NCIT:C96835"} ! bile duct cystadenoma
is_a: MONDO:0003444 {source="DOID:6733", source="MONDO:Redundant"} ! intrahepatic bile duct adenoma
intersection_of: MONDO:0002369 ! cystadenoma
intersection_of: disease_has_location UBERON:0003704 ! intrahepatic bile duct

[Term]
id: MONDO:0003980
name: schwannoma of jugular foramen
def: "A rare intracranial schwannoma that affects the jugular foramen." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "jugular Foramen neurilemmoma" EXACT [NCIT:C5323]
synonym: "jugular foramen schwannoma" EXACT [MONDO:patterns/location]
synonym: "neurilemmoma of jugular Foramen" EXACT [DOID:6735, NCIT:C5323]
synonym: "neurilemmoma of the jugular Foramen" EXACT [NCIT:C5323]
synonym: "schwannoma of the jugular Foramen" EXACT [NCIT:C5323]
xref: DOID:6735 {source="MONDO:equivalentTo"}
xref: MEDGEN:272780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5323 {source="MONDO:equivalentTo", source="DOID:6735"}
xref: UMLS:C1334300 {source="MEDGEN:272780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004820 {source="DOID:6735", source="NCIT:C5323"} ! peripheral nerve schwannoma
intersection_of: MONDO:0002546 ! schwannoma
intersection_of: disease_has_location UBERON:0005456 ! jugular foramen

[Term]
id: MONDO:0003981
name: obsolete cervix small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006142

[Term]
id: MONDO:0003982
name: bilateral breast carcinoma
def: "Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner." [NCIT:P378]
synonym: "bilateral breast cancer" BROAD [DOID:6741, NCIT:C8287]
synonym: "bilateral breast carcinoma" EXACT [NCIT:C8287]
xref: DOID:6741 {source="MONDO:equivalentTo"}
xref: MEDGEN:128977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8287 {source="DOID:6741", source="MONDO:equivalentTo"}
xref: UMLS:C0281267 {source="MEDGEN:128977", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004989 {source="DOID:6741", source="NCIT:C8287"} ! breast carcinoma

[Term]
id: MONDO:0003983
name: synchronous bilateral breast carcinoma
def: "Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast." [NCIT:P378]
xref: DOID:6742 {source="MONDO:equivalentTo"}
xref: MEDGEN:271163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40370 {source="DOID:6742", source="MONDO:equivalentTo"}
xref: UMLS:C1515107 {source="MEDGEN:271163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003982 {source="DOID:6742", source="NCIT:C40370"} ! bilateral breast carcinoma

[Term]
id: MONDO:0003984
name: internal auditory canal lipoma
def: "A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures." [NCIT:P378]
synonym: "inner Ear lipoma" EXACT [NCIT:C5452]
synonym: "internal acoustic meatus lipoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "internal Ear lipoma" EXACT [NCIT:C5452]
synonym: "lipoma of internal acoustic meatus" EXACT [MONDO:design_pattern]
synonym: "lipoma of internal auditory canal" EXACT [NCIT:C5452]
synonym: "lipoma of the internal auditory canal" EXACT [DOID:6752, NCIT:C5452]
xref: DOID:6752 {source="MONDO:equivalentTo"}
xref: MEDGEN:232658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5452 {source="DOID:6752", source="MONDO:equivalentTo"}
xref: UMLS:C1334226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232658"}
is_a: MONDO:0024320 {source="MONDO:Redundant", source="NCIT:C5452"} ! inner ear neoplasm
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0011859 ! internal acoustic meatus
relationship: excluded_subClassOf MONDO:0004532 {source="DOID:6752", source="https://orcid.org/0000-0001-5208-3432"} ! auditory system cancer

[Term]
id: MONDO:0003985
name: chest wall lymphoma
def: "A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas." [NCIT:C6712]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chest wall cancer" BROAD [DOID:6758]
synonym: "chest wall lymphoma" EXACT [MONDO:patterns/location]
synonym: "lymphoma of chest wall" EXACT [DOID:6758]
synonym: "lymphoma of the chest wall" EXACT [DOID:6758, NCIT:C6712]
synonym: "malignant neoplasm of chest wall" RELATED EXCLUDE [DOID:6758]
synonym: "malignant tumor of chest wall" RELATED EXCLUDE [DOID:6758]
synonym: "malignant tumour of chest wall" RELATED OMO:0003005 []
synonym: "primary chest wall lymphoma" EXACT [NCIT:C6712]
xref: DOID:6758 {source="MONDO:equivalentTo"}
xref: MEDGEN:232053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4580 {source="DOID:6758"}
xref: NCIT:C6712 {source="DOID:6758", source="MONDO:equivalentTo"}
xref: SCTID:188363005 {source="DOID:6758"}
xref: SCTID:712750007 {source="DOID:6758"}
xref: SCTID:93754006 {source="DOID:6758"}
xref: UMLS:C1332933 {source="MEDGEN:232053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003274 {source="DOID:6758", source="MONDO:Redundant", source="NCIT:C6712/inferred"} ! thoracic cancer
is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C6712/inferred"} ! lymphoma
is_a: MONDO:0021323 {source="MONDO:Redundant", source="NCIT:C6712"} ! malignant neoplasm of chest wall
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0016435 ! chest wall

[Term]
id: MONDO:0003986
name: obsolete MONDO:0003986
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017814

[Term]
id: MONDO:0003987
name: lung lymphoma
def: "A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung lymphoma" EXACT [MONDO:patterns/location]
synonym: "lymphoma of lung" EXACT [DOID:6760]
synonym: "lymphoma of the lung" EXACT [NCIT:C4794]
synonym: "primary lung lymphoma" EXACT [NCIT:C4794]
synonym: "pulmonary lymphoma" EXACT [DOID:6760, NCIT:C4794]
xref: DOID:6760 {source="MONDO:equivalentTo"}
xref: MEDGEN:312385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4794 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1704383 {source="MEDGEN:312385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="DOID:6760", source="MONDO:Redundant", source="NCIT:C4794/inferred"} ! lymphoma
is_a: MONDO:0008903 {source="DOID:6760", source="NCIT:C4794"} ! lung cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0003988
name: sternum lymphoma
def: "A rare lymphoma that arises from the bone or soft tissue of the sternum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoma of sternum" EXACT [DOID:6762, NCIT:C6716]
synonym: "lymphoma of the sternum" EXACT [DOID:6762]
synonym: "primary sternal lymphoma" EXACT [NCIT:C6716]
synonym: "sternal lymphoma" EXACT [NCIT:C6716]
synonym: "sternum lymphoma" EXACT [MONDO:patterns/location]
xref: DOID:6762 {source="MONDO:equivalentTo"}
xref: MEDGEN:277770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6716 {source="DOID:6762", source="MONDO:equivalentTo"}
xref: UMLS:C1336504 {source="MEDGEN:277770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003273 {source="DOID:6762", source="NCIT:C6716"} ! sternum cancer
is_a: MONDO:0005062 {source="DOID:6762", source="MONDO:Entailed", source="NCIT:C6716/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0000975 ! sternum

[Term]
id: MONDO:0003989
name: polyembryoma of the ovary
def: "A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian polyembryoma" EXACT [NCIT:C39990]
synonym: "polyembryoma" RELATED [ONCOTREE:OPE]
xref: DOID:6774 {source="MONDO:equivalentTo"}
xref: MEDGEN:271323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39990 {source="DOID:6774", source="MONDO:equivalentTo"}
xref: ONCOTREE:OPE {source="MONDO:equivalentTo"}
xref: UMLS:C1514199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271323"}
is_a: MONDO:0003408 {source="DOID:6774", source="MONDO:Redundant", source="NCIT:C39990/inferred"} ! ovarian primitive germ cell tumor
is_a: MONDO:0015863 {source="NCIT:C39990"} ! polyembryoma
is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C39990"} ! malignant non-dysgerminomatous germ cell tumor of ovary

[Term]
id: MONDO:0003990
name: malignant breast myoepithelioma
def: "An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported." [NCIT:P378]
synonym: "breast malignant myoepithelioma" EXACT [MONDO:patterns/location]
synonym: "breast myoepithelial carcinoma" EXACT [MONDO:patterns/location, NCIT:C40395]
synonym: "malignant breast myoepithelioma" EXACT [NCIT:C40395]
xref: DOID:6776 {source="MONDO:equivalentTo"}
xref: MEDGEN:309375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40395 {source="DOID:6776", source="MONDO:equivalentTo"}
xref: UMLS:C1518167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309375"}
is_a: MONDO:0002483 {source="MONDO:Redundant", source="NCIT:C40395"} ! breast myoepithelial tumor
is_a: MONDO:0003158 {source="DOID:6776", source="MONDO:Redundant", source="NCIT:C40395"} ! malignant myoepithelioma
is_a: MONDO:0004989 {source="DOID:6776", source="MONDO:Redundant", source="NCIT:C40395/inferred"} ! breast carcinoma
is_a: MONDO:0006256 {source="NCIT:C40395"} ! invasive breast carcinoma
intersection_of: MONDO:0003158 ! malignant myoepithelioma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0003991
name: villoglandular endometrial endometrioid adenocarcinoma
def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells." [NCIT:C27846]
synonym: "villoglandular endometrial endometrioid adenocarcinoma" EXACT [NCIT:C27846]
xref: DOID:6777 {source="MONDO:equivalentTo"}
xref: MEDGEN:277869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27846 {source="DOID:6777", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277869"}
is_a: MONDO:0003204 {source="NCIT:C27846"} ! villous adenocarcinoma
is_a: MONDO:0005461 {source="DOID:6777", source="NCIT:C27846/inferred"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="NCIT:C27846"} ! endometrial endometrioid adenocarcinoma

[Term]
id: MONDO:0003992
name: childhood botryoid rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "botryoid rhabdomyosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "botryoid-type embryonal rhabdomyosarcoma" BROAD [NCIT:C35574]
synonym: "childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C35574]
synonym: "childhood sarcoma Botryoides" EXACT [DOID:6786, NCIT:C35574]
synonym: "paediatric botryoid rhabdomyosarcoma" EXACT OMO:0003005 []
synonym: "pediatric botryoid rhabdomyosarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:6786 {source="MONDO:equivalentTo"}
xref: MEDGEN:232054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35574 {source="DOID:6786", source="MONDO:equivalentTo"}
xref: UMLS:C1332944 {source="MEDGEN:232054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002578 {source="DOID:6786", source="MONDO:Redundant", source="NCIT:C35574"} ! botryoid rhabdomyosarcoma
intersection_of: MONDO:0002578 ! botryoid rhabdomyosarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003993
name: childhood vagina botryoid rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C35556]
synonym: "childhood sarcoma Botryoides of the vagina" EXACT [NCIT:C35556]
synonym: "paediatric botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT OMO:0003005 []
synonym: "pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "vaginal childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C35556]
synonym: "vaginal childhood sarcoma Botryoides" EXACT [DOID:6787, NCIT:C35556]
xref: DOID:6787 {source="MONDO:equivalentTo"}
xref: MEDGEN:232055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35556 {source="DOID:6787", source="MONDO:equivalentTo"}
xref: UMLS:C1332945 {source="MEDGEN:232055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003994 {source="DOID:6787", source="MONDO:Redundant", source="NCIT:C35556"} ! botryoid-type embryonal rhabdomyosarcoma of the vagina
intersection_of: MONDO:0003994 ! botryoid-type embryonal rhabdomyosarcoma of the vagina
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0003994
name: botryoid-type embryonal rhabdomyosarcoma of the vagina
def: "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." [NCIT:C40268]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "botryoid rhabdomyosarcoma of vagina" EXACT [MONDO:design_pattern]
synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C40268]
synonym: "sarcoma Botryoides of the vagina" EXACT [NCIT:C40268]
synonym: "vagina botryoid rhabdomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:6788 {source="MONDO:equivalentTo"}
xref: MEDGEN:267758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40268 {source="DOID:6788", source="MONDO:equivalentTo"}
xref: UMLS:C1511275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267758"}
is_a: MONDO:0002140 {source="DOID:6788", source="MONDO:Redundant", source="NCIT:C40268/inferred"} ! vagina sarcoma
is_a: MONDO:0002578 {source="DOID:6788", source="MONDO:Redundant", source="NCIT:C40268"} ! botryoid rhabdomyosarcoma
is_a: MONDO:0016095 {source="MONDO:Redundant", source="NCIT:C40268"} ! vaginal rhabdomyosarcoma
intersection_of: MONDO:0002578 ! botryoid rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0003995
name: vulvar childhood botryoid-type embryonal rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." [NCIT:C36098]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood botryoid rhabdomyosarcoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "childhood botryoid-type embryonal rhabdomyosarcoma of the vulva" EXACT [NCIT:C36098]
synonym: "childhood sarcoma Botryoides of the vulva" EXACT [DOID:6789, NCIT:C36098]
synonym: "mammalian vulva childhood botryoid rhabdomyosarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C36098]
xref: DOID:6789 {source="MONDO:equivalentTo"}
xref: MEDGEN:232056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36098 {source="DOID:6789", source="MONDO:equivalentTo"}
xref: UMLS:C1332946 {source="MEDGEN:232056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003992 {source="MONDO:Redundant", source="NCIT:C36098"} ! childhood botryoid rhabdomyosarcoma
is_a: MONDO:0005214 {source="DOID:6789", source="MONDO:Redundant", source="NCIT:C36098"} ! vulva sarcoma
intersection_of: MONDO:0003992 ! childhood botryoid rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0003996
name: basal ganglia disorder
def: "A disease involving the basal ganglia." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "basal ganglia disease" EXACT [MONDO:patterns/location]
synonym: "collection of basal ganglia disease" EXACT [MONDO:patterns/location]
synonym: "collection of basal ganglia disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of basal ganglia" EXACT [MONDO:patterns/location_top]
synonym: "disease of collection of basal ganglia" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of collection of basal ganglia" EXACT []
synonym: "disorder of basal ganglia" RELATED [MONDO:patterns/location_top]
synonym: "disorder of collection of basal ganglia" EXACT [MONDO:patterns/location_top]
xref: CSP:2057-3403 {source="DOID:679"}
xref: DOID:679 {source="MONDO:equivalentTo"}
xref: EFO:0009533 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1619147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001480 {source="DOID:679", source="MONDO:equivalentTo"}
xref: SCTID:70835005 {source="DOID:679", source="MONDO:equivalentTo"}
xref: UMLS:C4520981 {source="MEDGEN:1619147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:679", source="MESH:D001480", source="MONDO:Redundant"} ! brain disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0010011 ! collection of basal ganglia

[Term]
id: MONDO:0003997
name: colon Kaposi sarcoma
def: "A Kaposi sarcoma arising from the colon." [NCIT:C5516]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "colon Kaposi sarcoma" EXACT [NCIT:C5516]
synonym: "colon Kaposi's sarcoma" EXACT [NCIT:C5516]
synonym: "colon Kaposi's sarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "colon Kaposis sarcoma" EXACT [NCIT:C5516]
synonym: "colonic Kaposi sarcoma" EXACT [NCIT:C5516]
synonym: "colonic Kaposi's sarcoma" EXACT [DOID:6804, NCIT:C5516]
synonym: "colonic Kaposis sarcoma" EXACT [NCIT:C5516]
synonym: "Kaposi's sarcoma (disease) of colon" EXACT []
synonym: "Kaposi's sarcoma of colon" EXACT [NCIT:C5516]
synonym: "Kaposi's sarcoma of the colon" EXACT [NCIT:C5516]
xref: DOID:6804 {source="MONDO:equivalentTo"}
xref: MEDGEN:232378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5516 {source="MONDO:equivalentTo", source="DOID:6804", source="MONDO:exact-label-match"}
xref: UMLS:C1333091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232378"}
is_a: MONDO:0003352 {source="DOID:6804", source="MONDO:Redundant", source="NCIT:C5516"} ! colon sarcoma
intersection_of: MONDO:0005055 ! Kaposi's sarcoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0003998
name: obsolete vaginal tubular adenoma
def: "OBSOLETE. An adenoma that arises from the vagina and is characterized by a tubular architectural pattern." [NCIT:C40257]
synonym: "vaginal tubular adenoma" EXACT [NCIT:C40257]
xref: DOID:6809 {source="MONDO:obsoleteEquivalentObsolete"}
xref: NCIT:C40257 {source="MONDO:exact-label-match", source="DOID:6809", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5031" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0003999
name: juvenile pilocytic astrocytoma
def: "A pilocytic astrocytoma that occurs during adolescence." [NCIT:C27081]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:673580"}
subset: rare
synonym: "juvenile pilocytic astrocytoma" EXACT [NCIT:C27081]
xref: DOID:6811 {source="MONDO:equivalentTo"}
xref: MEDGEN:128890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="DOID:6811"}
xref: NCIT:C27081 {source="DOID:6811", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:673580 {source="MONDO:equivalentTo"}
xref: UMLS:C0280783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:128890"}
is_a: MONDO:0004000 {source="DOID:6811", source="NCIT:C27081"} ! childhood pilocytic astrocytoma

[Term]
id: MONDO:0004000
name: childhood pilocytic astrocytoma
def: "A pilocytic astrocytoma that occurs during childhood." [NCIT:C4048]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood pilocytic astrocytoma" EXACT [NCIT:C4048]
synonym: "paediatric pilocytic astrocytoma" EXACT OMO:0003005 []
synonym: "pediatric pilocytic astrocytoma" EXACT [DOID:6812, MONDO:patterns/childhood, NCIT:C4048]
synonym: "pilocytic astrocytoma" BROAD [NCIT:C4048]
synonym: "pilocytic astrocytoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C4048]
xref: DOID:6812 {source="MONDO:equivalentTo"}
xref: MEDGEN:232355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200084 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4048 {source="MONDO:equivalentTo", source="DOID:6812", source="MONDO:exact-label-match"}
xref: UMLS:C1332995 {source="MEDGEN:232355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016691 {source="DOID:6812", source="MONDO:Redundant", source="NCIT:C4048"} ! pilocytic astrocytoma
intersection_of: MONDO:0016691 ! pilocytic astrocytoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004001
name: compartment syndrome
def: "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." [NCIT:P378]
subset: gard_rare {source="GARD:6141", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "compartment syndrome" EXACT [DOID:682]
synonym: "compartmental syndrome" EXACT [DOID:682]
synonym: "compartmental syndrome, NOS" RELATED EXCLUDE [DOID:682]
xref: DOID:682 {source="MONDO:equivalentTo"}
xref: GARD:6141 {source="MONDO:GARD"}
xref: ICD10CM:T79.A0 {source="DOID:682"}
xref: ICD9:958.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:958.90 {source="DOID:682"}
xref: MEDGEN:40417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003161 {source="MONDO:equivalentTo", source="DOID:682"}
xref: NCIT:C118422 {source="MONDO:equivalentTo", source="DOID:682"}
xref: SCTID:111245009 {source="MONDO:equivalentTo", source="DOID:682"}
xref: SCTID:212379008 {source="DOID:682"}
xref: SCTID:45781009 {source="MONDO:relatedTo", source="DOID:682"}
xref: UMLS:C0009492 {source="MEDGEN:40417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C118422"} ! syndromic disease
relationship: disease_has_feature MONDO:0005053 ! ischemic disease
relationship: excluded_subClassOf MONDO:0005053 {source="DOID:682", source="https://orcid.org/0000-0001-5208-3432"} ! ischemic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome" xsd:anyURI {source="GARD:0006141"}

[Term]
id: MONDO:0004002
name: obsolete pancreatoblastoma
is_obsolete: true
replaced_by: MONDO:0019035

[Term]
id: MONDO:0004003
name: obsolete pancreatic solid pseudopapillary carcinoma
is_obsolete: true
replaced_by: MONDO:0018525

[Term]
id: MONDO:0004004
name: motor nerve neuritis
def: "Inflammation of the peripheral motor nerves." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "motor neuritis" EXACT [DOID:683]
xref: DOID:683 {source="MONDO:equivalentTo"}
xref: MEDGEN:68610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009443 {source="MONDO:relatedTo", source="DOID:683"}
xref: NCIT:C3500 {source="MONDO:relatedTo", source="DOID:683"}
xref: SCTID:95663000 {source="MONDO:relatedTo", source="DOID:683"}
xref: UMLS:C0235025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68610"}
intersection_of: MONDO:0002316 ! motor peripheral neuropathy
intersection_of: disease_has_inflammation_site UBERON:0001021 ! nerve
relationship: excluded_subClassOf MONDO:0020128 {source="DOID:683", source="https://orcid.org/0000-0001-5208-3432"} ! motor neuron disorder

[Term]
id: MONDO:0004005
name: rete ovarii adenoma
def: "An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign." [NCIT:P378]
synonym: "adenoma, rete ovarii, benign" EXACT [NCIT:C40018]
synonym: "rete ovarii adenoma" EXACT [MONDO:patterns/location]
xref: DOID:6837 {source="MONDO:equivalentTo"}
xref: MEDGEN:271495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40018 {source="MONDO:equivalentTo", source="DOID:6837"}
xref: SCTID:703654008 {source="DOID:6837"}
xref: UMLS:C1514905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271495"}
is_a: MONDO:0000624 {source="DOID:6837/inferred", source="NCIT:C40018"} ! benign female reproductive system neoplasm
is_a: MONDO:0003192 {source="DOID:6837", source="MONDO:Redundant", source="NCIT:C40018"} ! rete ovarii neoplasm
is_a: MONDO:0004972 {source="DOID:6837", source="MONDO:Redundant", source="NCIT:C40018"} ! adenoma
is_a: MONDO:0024276 {source="NCIT:C40018"} ! glandular cell neoplasm
is_a: MONDO:0036976 {source="MONDO:Redundant", source="NCIT:C40018"} ! benign epithelial neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0010185 ! rete ovarii

[Term]
id: MONDO:0004006
name: rete ovarii cystadenofibroma
def: "An exceptionally rare cystadenofibroma that arises from the rete ovarii." [NCIT:P378]
synonym: "cystadenofibroma of rete ovarii" EXACT [MONDO:design_pattern]
synonym: "rete ovarii cystadenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:6838 {source="MONDO:equivalentTo"}
xref: MEDGEN:308159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40020 {source="MONDO:equivalentTo", source="DOID:6838"}
xref: UMLS:C1514906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308159"}
is_a: MONDO:0003192 {source="DOID:6838", source="MONDO:Redundant", source="NCIT:C40020"} ! rete ovarii neoplasm
is_a: MONDO:0003464 {source="DOID:6838", source="MONDO:Redundant", source="NCIT:C40020"} ! cystadenofibroma
intersection_of: MONDO:0003464 ! cystadenofibroma
intersection_of: disease_has_location UBERON:0010185 ! rete ovarii

[Term]
id: MONDO:0004007
name: breast intraductal proliferative lesion
def: "A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "DIN" EXACT ABBREVIATION [NCIT:C27942]
synonym: "ductal intraepithelial neoplasia" EXACT [NCIT:C27942]
synonym: "intraductal proliferative lesion" EXACT [DOID:6839, NCIT:C27942]
synonym: "intraductal proliferative lesion of the breast" EXACT [NCIT:C27942]
synonym: "mammary intraepithelial neoplasia, ductal type" EXACT [NCIT:C27942]
xref: DOID:6839 {source="MONDO:equivalentTo"}
xref: MEDGEN:277343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27942 {source="MONDO:equivalentTo", source="DOID:6839"}
xref: UMLS:C1334631 {source="MEDGEN:277343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002488 {source="DOID:6839", source="NCIT:C27942"} ! intraductal breast neoplasm

[Term]
id: MONDO:0004008
name: flat ductal epithelial atypia
def: "A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia." [NCIT:P378]
synonym: "clinging carcinoma" EXACT [NCIT:C36086]
synonym: "DIN 1A" EXACT [NCIT:C36086]
synonym: "ductal intraepithelial neoplasia, grade 1A" EXACT [NCIT:C36086]
synonym: "FEA" EXACT ABBREVIATION [NCIT:C36086]
synonym: "flat ductal epithelial atypia" EXACT [DOID:6841, NCIT:C36086]
synonym: "flat ductal epithelial atypia of the breast" EXACT [NCIT:C36086]
synonym: "flat epithelial atypia" EXACT [NCIT:C36086]
synonym: "flat epithelial atypia of the breast" EXACT [NCIT:C36086]
xref: DOID:6841 {source="MONDO:equivalentTo"}
xref: MEDGEN:232508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36086 {source="DOID:6841", source="MONDO:equivalentTo"}
xref: UMLS:C1333620 {source="MEDGEN:232508", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004007 {source="DOID:6841", source="NCIT:C36086"} ! breast intraductal proliferative lesion

[Term]
id: MONDO:0004009
name: kidney pelvis sarcomatoid transitional cell carcinoma
def: "An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant" EXACT [NCIT:C6186]
synonym: "kidney pelvis sarcomatoid transitional cell carcinoma" EXACT [NCIT:C6186]
synonym: "renal pelvis sarcomatoid transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "sarcomatoid transitional cell carcinoma of kidney pelvis" EXACT [NCIT:C6186]
synonym: "sarcomatoid transitional cell carcinoma of renal pelvis" EXACT [DOID:6844, NCIT:C6186]
synonym: "sarcomatoid transitional cell carcinoma of the kidney pelvis" EXACT [NCIT:C6186]
synonym: "sarcomatoid transitional cell carcinoma of the renal pelvis" EXACT [NCIT:C6186]
xref: DOID:6844 {source="MONDO:equivalentTo"}
xref: MEDGEN:233403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6186 {source="DOID:6844", source="MONDO:equivalentTo"}
xref: UMLS:C1335752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233403"}
is_a: MONDO:0002837 {source="DOID:6844", source="MONDO:Redundant", source="NCIT:C6186"} ! sarcomatoid transitional cell carcinoma
intersection_of: MONDO:0002837 ! sarcomatoid transitional cell carcinoma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis
relationship: excluded_subClassOf MONDO:0000381 {source="DOID:6844", source="https://orcid.org/0000-0001-5208-3432"} ! infiltrating renal pelvis transitional cell carcinoma

[Term]
id: MONDO:0004010
name: infiltrating renal pelvis/ureter urothelial carcinoma
synonym: "infiltrating renal pelvis and ureter transitional cell carcinoma" EXACT [NCIT:C39879]
synonym: "infiltrating renal pelvis and ureter urothelial carcinoma" EXACT [NCIT:C39879]
synonym: "infiltrating ureter transitional cell carcinoma" NARROW [DOID:6845]
xref: MEDGEN:268273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39879 {source="MONDO:equivalentTo", source="DOID:6845"}
xref: UMLS:C1512750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:268273"}
is_a: MONDO:0040678 {source="NCIT:C39879"} ! infiltrating urothelial carcinoma
intersection_of: MONDO:0040678 ! infiltrating urothelial carcinoma
intersection_of: disease_has_location UBERON:0036295 ! renal pelvis/ureter

[Term]
id: MONDO:0004011
name: obsolete familial melanoma
is_obsolete: true
replaced_by: MONDO:0018961

[Term]
id: MONDO:0004012
name: adult botryoid rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." [NCIT:C36099]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult botryoid sarcoma" EXACT [NCIT:C36099]
synonym: "adult botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C36099]
synonym: "botryoid rhabdomyosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6847 {source="MONDO:equivalentTo"}
xref: MEDGEN:231032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36099 {source="MONDO:equivalentTo", source="DOID:6847"}
xref: UMLS:C1332185 {source="MEDGEN:231032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002578 {source="DOID:6847", source="MONDO:Redundant", source="NCIT:C36099"} ! botryoid rhabdomyosarcoma
intersection_of: MONDO:0002578 ! botryoid rhabdomyosarcoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004013
name: adult vagina botryoid embryonal rhabdomyosarcoma
def: "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults." [NCIT:C40267]
comment: Editor note: check embryonal rhabdomyosarcoma vs rhabdomyosarcoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C40267]
synonym: "adult sarcoma Botryoides of the vagina" EXACT [NCIT:C40267]
synonym: "adult vagina botryoid rhabdomyosarcoma" RELATED [DOID:6848]
synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:6848 {source="MONDO:equivalentTo"}
xref: MEDGEN:272994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40267 {source="MONDO:equivalentTo", source="DOID:6848"}
xref: UMLS:C1515893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272994"}
is_a: MONDO:0003994 {source="DOID:6848", source="MONDO:Redundant", source="NCIT:C40267"} ! botryoid-type embryonal rhabdomyosarcoma of the vagina
intersection_of: MONDO:0003994 ! botryoid-type embryonal rhabdomyosarcoma of the vagina
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004014
name: ethmoid sinus ectopic meningioma
def: "An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ethmoid sinus primary ectopic meningioma" EXACT [NCIT:C5309]
synonym: "ethmoidal sinus primary ectopic meningioma" EXACT [NCIT:C5309]
synonym: "primary ectopic meningioma of ethmoid sinus" EXACT [NCIT:C5309]
synonym: "primary ectopic meningioma of ethmoidal sinus" EXACT [DOID:6854, NCIT:C5309]
synonym: "primary ectopic meningioma of the ethmoid sinus" EXACT [NCIT:C5309]
synonym: "primary ectopic meningioma of the ethmoidal sinus" EXACT [NCIT:C5309]
xref: DOID:6854 {source="MONDO:equivalentTo"}
xref: MEDGEN:232473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5309 {source="DOID:6854", source="MONDO:equivalentTo"}
xref: UMLS:C1333475 {source="MEDGEN:232473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001764 {source="DOID:6854", source="NCIT:C5309"} ! ethmoidal sinus neoplasm

[Term]
id: MONDO:0004015
name: pineal region teratoma
def: "A mature or immature teratoma that arises in the pineal region." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pineal area teratoma" EXACT [NCIT:C6753]
synonym: "teratoma of pineal area" EXACT [DOID:6856, NCIT:C6753]
synonym: "teratoma of pineal region" EXACT [NCIT:C6753]
synonym: "teratoma of the pineal area" EXACT [NCIT:C6753]
synonym: "teratoma of the pineal region" EXACT [NCIT:C6753]
xref: DOID:6856 {source="MONDO:equivalentTo"}
xref: MEDGEN:277517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6753 {source="MONDO:equivalentTo", source="DOID:6856"}
xref: UMLS:C1335419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277517"}
is_a: MONDO:0002718 {source="MONDO:Redundant", source="NCIT:C6753"} ! central nervous system teratoma
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_has_location UBERON:0001905 ! pineal body
relationship: excluded_subClassOf MONDO:0002073 {source="DOID:6856", source="https://orcid.org/0000-0001-5208-3432"} ! malignant pineal area germ cell neoplasm

[Term]
id: MONDO:0004016
name: pineal region mature teratoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mature teratoma of pineal area" EXACT [NCIT:C6754]
synonym: "mature teratoma of pineal region" EXACT [NCIT:C6754]
synonym: "mature teratoma of the pineal area" EXACT [DOID:6857, NCIT:C6754]
synonym: "mature teratoma of the pineal region" EXACT [NCIT:C6754]
synonym: "pineal area mature teratoma" EXACT [NCIT:C6754]
xref: DOID:6857 {source="MONDO:equivalentTo"}
xref: MEDGEN:233329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6754 {source="DOID:6857", source="MONDO:equivalentTo"}
xref: UMLS:C1335417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233329"}
is_a: MONDO:0003733 {source="MONDO:Redundant", source="NCIT:C6754"} ! central nervous system mature teratoma
is_a: MONDO:0004015 {source="DOID:6857", source="MONDO:Redundant", source="NCIT:C6754"} ! pineal region teratoma
intersection_of: MONDO:0003517 ! mature teratoma
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0004017
name: pineal region immature teratoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "atypical pineal teratoma" EXACT [DOID:6858, NCIT:C6755]
synonym: "immature teratoma of pineal area" EXACT [NCIT:C6755]
synonym: "immature teratoma of pineal region" EXACT [NCIT:C6755]
synonym: "immature teratoma of the pineal area" EXACT [NCIT:C6755]
synonym: "immature teratoma of the pineal region" EXACT [NCIT:C6755]
synonym: "pineal area immature teratoma" EXACT [NCIT:C6755]
xref: DOID:6858 {source="MONDO:equivalentTo"}
xref: MEDGEN:277516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6755 {source="MONDO:equivalentTo", source="DOID:6858"}
xref: UMLS:C1335416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277516"}
is_a: MONDO:0002073 {source="DOID:6858/inferred", source="MONDO:Redundant", source="NCIT:C6755"} ! malignant pineal area germ cell neoplasm
is_a: MONDO:0003735 {source="NCIT:C6755"} ! central nervous system immature teratoma
is_a: MONDO:0004015 {source="DOID:6858", source="MONDO:Redundant", source="NCIT:C6755"} ! pineal region teratoma
intersection_of: MONDO:0024746 ! immature teratoma
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0004018
name: obsolete liver carcinoma
def: "OBSOLETE. A carcinoma that involves the liver." [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0007256

[Term]
id: MONDO:0004019
name: oxyphilic endometrial endometrioid adenocarcinoma
def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells." [NCIT:C27849]
synonym: "oxyphilic endometrial endometrioid adenocarcinoma" EXACT [NCIT:C27849]
xref: DOID:6865 {source="MONDO:equivalentTo"}
xref: MEDGEN:309527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27849 {source="DOID:6865", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518768 {source="MEDGEN:309527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005461 {source="DOID:6865", source="NCIT:C27849/inferred"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="NCIT:C27849"} ! endometrial endometrioid adenocarcinoma

[Term]
id: MONDO:0004020
name: mediastinal gray zone lymphoma
def: "A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37870]
synonym: "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37870]
synonym: "mediastinal Gray zone lymphoma" EXACT [NCIT:C37870]
synonym: "mediastinal Grey zone lymphoma" EXACT OMO:0003005 []
xref: DOID:6867 {source="MONDO:equivalentTo"}
xref: MEDGEN:233679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37870 {source="MONDO:equivalentTo", source="DOID:6867"}
xref: UMLS:C1334657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233679"}
is_a: MONDO:0003658 {source="DOID:6867", source="NCIT:C37870"} ! B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma
is_a: MONDO:0004021 {source="DOID:6867", source="NCIT:C37870"} ! mediastinal malignant lymphoma

[Term]
id: MONDO:0004021
name: mediastinal malignant lymphoma
def: "A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoma of mediastinum" EXACT [DOID:6868, NCIT:C6633]
synonym: "lymphoma of the mediastinum" EXACT [NCIT:C6633]
synonym: "mediastinal lymphoma" EXACT [NCIT:C6633]
synonym: "mediastinal malignant lymphoma" EXACT [NCIT:C6633]
synonym: "mediastinum lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary mediastinal lymphoma" EXACT [NCIT:C6633]
xref: DOID:6868 {source="MONDO:equivalentTo"}
xref: MEDGEN:235311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6633 {source="DOID:6868", source="MONDO:equivalentTo"}
xref: UMLS:C1334665 {source="MEDGEN:235311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="DOID:6868", source="MONDO:Redundant", source="NCIT:C6633/inferred"} ! lymphoma
is_a: MONDO:0005843 {source="DOID:6868", source="NCIT:C6633"} ! mediastinal cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0004022
name: parasagittal meningioma
def: "A meningioma that affects the superior sagittal sinus and invades the parasagittal angle." [NCIT:C4960]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:6869 {source="MONDO:equivalentTo"}
xref: MEDGEN:155845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:6869"}
xref: NCIT:C4960 {source="MONDO:equivalentTo", source="DOID:6869"}
xref: UMLS:C0751304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155845"}
is_a: MONDO:0003772 {source="DOID:6869/inferred", source="NCIT:C4960"} ! cerebral meningioma
relationship: excluded_subClassOf MONDO:0003774 {source="DOID:6869", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral convexity meningioma

[Term]
id: MONDO:0004023
name: obsolete hepatoblastoma
is_obsolete: true
replaced_by: MONDO:0018666

[Term]
id: MONDO:0004024
name: spinal cord neuroblastoma
def: "A neuroblastoma that affects the spinal cord." [NCIT:C5155]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neuroblastoma of spinal cord" EXACT [NCIT:C5155]
synonym: "neuroblastoma of the spinal cord" EXACT [DOID:6871, NCIT:C5155]
synonym: "spinal cord neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C5155]
xref: DOID:6871 {source="MONDO:equivalentTo"}
xref: MEDGEN:234803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5155 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6871"}
xref: UMLS:C1336046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234803"}
is_a: MONDO:0002749 {source="NCIT:C5155"} ! extracranial neuroblastoma
is_a: MONDO:0003544 {source="DOID:6871/inferred", source="MONDO:Redundant", source="NCIT:C5155"} ! spinal cord cancer
is_a: MONDO:0005072 {source="DOID:6871", source="MONDO:Redundant", source="NCIT:C5155/inferred"} ! neuroblastoma
intersection_of: MONDO:0005072 ! neuroblastoma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0004025
name: obsolete spinal cord embryonal tumor, not otherwise specified
is_obsolete: true
replaced_by: MONDO:0006426

[Term]
id: MONDO:0004026
name: skin tag
def: "A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction." [NCIT:P378]
synonym: "acrochordon" EXACT [NCIT:C3374]
synonym: "cutaneous fibroepithelial polyp" EXACT [NCIT:C3374]
synonym: "cutaneous tag" EXACT [DOID:6873]
synonym: "fibroepithelial polyp" RELATED [DOID:6873, NCIT:C3337]
synonym: "fibroepithelial polyp of skin" EXACT [DOID:6873, NCIT:C3374]
synonym: "fibroepithelial polyp of the skin" EXACT [NCIT:C3374]
synonym: "fibroma molle" EXACT [NCIT:C3374]
synonym: "soft fibroma" EXACT [DOID:6873]
xref: DOID:6873 {source="MONDO:equivalentTo"}
xref: MEDGEN:11452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3337 {source="DOID:6873"}
xref: NCIT:C3374 {source="DOID:6873", source="MONDO:equivalentTo"}
xref: SCTID:156440000 {source="DOID:6873"}
xref: SCTID:189051001 {source="DOID:6873"}
xref: SCTID:201091002 {source="DOID:6873", source="MONDO:equivalentTo"}
xref: SCTID:255183007 {source="DOID:6873"}
xref: SCTID:2710003 {source="DOID:6873"}
xref: SCTID:31069005 {source="DOID:6873"}
xref: SCTID:80801001 {source="DOID:6873"}
xref: UMLS:C0037293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11452"}
is_a: MONDO:0006603 {source="DOID:6873"} ! reactive cutaneous fibrous lesion
is_a: MONDO:0060765 {source="NCIT:C3374"} ! fibroepithelial polyp

[Term]
id: MONDO:0004027
name: obsolete embryonal cancer
is_obsolete: true
consider: MONDO:0005564

[Term]
id: MONDO:0004028
name: small intestinal fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fibrosarcoma of small bowel" EXACT [NCIT:C5336]
synonym: "fibrosarcoma of small intestine" EXACT [NCIT:C5336]
synonym: "fibrosarcoma of the small bowel" EXACT [NCIT:C5336]
synonym: "fibrosarcoma of the small intestine" EXACT [NCIT:C5336]
synonym: "fibrosarcoma, small intestine" EXACT [DOID:6880, NCIT:C5336]
synonym: "small bowel fibrosarcoma" EXACT [NCIT:C5336]
synonym: "small intestinal fibrosarcoma" EXACT [NCIT:C5336]
synonym: "small intestine fibrosarcoma" EXACT [NCIT:C5336]
synonym: "small intestine fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:6880 {source="MONDO:equivalentTo"}
xref: MEDGEN:234788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5336 {source="MONDO:equivalentTo", source="DOID:6880"}
xref: UMLS:C1335994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234788"}
is_a: MONDO:0003361 {source="DOID:6880", source="MONDO:Redundant", source="NCIT:C5336"} ! small intestinal sarcoma
is_a: MONDO:0005164 {source="DOID:6880", source="MONDO:Redundant", source="NCIT:C5336/inferred"} ! fibrosarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0004029
name: obsolete ureter small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006482

[Term]
id: MONDO:0004030
name: ureter transitional cell carcinoma
def: "A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "transitional cell carcinoma of the ureter" EXACT [NCIT:C4830]
synonym: "transitional cell carcinoma of ureter" EXACT [NCIT:C4830]
synonym: "ureter transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4830]
synonym: "ureter urothelial cancer" EXACT [NCIT:C4830]
synonym: "ureter urothelial carcinoma" EXACT [NCIT:C4830]
synonym: "ureteral transitional cell carcinoma" EXACT [NCIT:C4830]
synonym: "ureteral urothelial cell carcinoma" EXACT [DOID:6888, NCIT:C4830]
synonym: "urothelial cell carcinoma of the ureter" EXACT [NCIT:C4830]
synonym: "urothelial cell carcinoma of ureter" EXACT [NCIT:C4830]
xref: DOID:6888 {source="MONDO:equivalentTo"}
xref: MEDGEN:108291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4830 {source="DOID:6888", source="MONDO:equivalentTo"}
xref: SCTID:300988009 {source="DOID:6888", source="MONDO:equivalentTo"}
xref: UMLS:C0577692 {source="MONDO:equivalentTo", source="MEDGEN:108291", source="MONDO:MEDGEN"}
is_a: MONDO:0006474 {source="DOID:6888", source="MONDO:0004030/inferred", source="MONDO:Entailed", source="NCIT:C4830/inferred"} ! transitional cell carcinoma
is_a: MONDO:0006481 {source="DOID:6888", source="EFO:1001973", source="MONDO:Redundant", source="NCIT:C4830"} ! ureter carcinoma
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0004031
name: ovary mixed epithelial carcinoma
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0004032 ovarian seromucinous carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "mixed epithelial carcinoma of ovary" RELATED [DOID:6898, NCIT:C9123]
synonym: "mixed ovarian carcinoma" RELATED [ONCOTREE:MXOV]
xref: DOID:6898 {source="MONDO:equivalentTo"}
xref: NCIT:C40090 {source="ONCOTREE:MXOV"}
xref: ONCOTREE:MXOV {source="MONDO:equivalentTo"}
is_a: MONDO:0005140 {source="DOID:6898"} ! ovarian carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7609" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0004032
name: ovarian seromucinous carcinoma
def: "A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium." [NCIT:C40090]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant ovarian mixed epithelial neoplasm" EXACT [NCIT:C40090]
synonym: "malignant ovarian mixed epithelial tumor" EXACT [NCIT:C40090]
synonym: "malignant ovarian mixed epithelial tumour" EXACT OMO:0003005 []
synonym: "mixed epithelial carcinoma of ovary" EXACT [NCIT:C40090]
synonym: "mixed epithelial carcinoma of the ovary" EXACT [NCIT:C40090]
synonym: "ovarian mixed epithelial carcinoma" EXACT [NCIT:C40090]
synonym: "ovarian Seromucinous carcinoma" EXACT [NCIT:C40090]
xref: DOID:6899 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:1651770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40090 {source="DOID:6899", source="MONDO:equivalentTo"}
xref: ONCOTREE:OSMCA {source="MONDO:equivalentTo"}
xref: UMLS:C0279392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1651770"}
is_a: MONDO:0003811 {source="DOID:6899", source="NCIT:C40090"} ! ovarian seromucinous tumor
is_a: MONDO:0005853 {source="MONDO:Redundant", source="NCIT:C40090"} ! malignant mixed neoplasm
is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40090"} ! malignant epithelial tumor of ovary

[Term]
id: MONDO:0004033
name: obsolete familial ovarian carcinoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4889" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016248

[Term]
id: MONDO:0004034
name: eye lymphoma
def: "A lymphoma that involves the eye." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "eye lymphoma" EXACT [MONDO:patterns/location, NCIT:C35690]
synonym: "eyeball of camera-type eye lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymphoma of eyeball of camera-type eye" EXACT [MONDO:design_pattern]
synonym: "primary eye lymphoma" EXACT [NCIT:C35690]
xref: DOID:6903 {source="MONDO:equivalentTo"}
xref: MEDGEN:1788822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35690 {source="MONDO:equivalentTo", source="DOID:6903", source="MONDO:exact-label-match"}
xref: UMLS:C0730306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788822"}
is_a: MONDO:0002236 {source="DOID:6903", source="NCIT:C35690"} ! ocular cancer
is_a: MONDO:0005062 {source="DOID:6903", source="MONDO:Redundant", source="NCIT:C35690/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0004035
name: glomangiomatosis
def: "A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces." [NCIT:C27496]
xref: DOID:6906 {source="MONDO:equivalentTo"}
xref: MEDGEN:234311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27496 {source="MONDO:equivalentTo", source="DOID:6906"}
xref: SCTID:703603008 {source="DOID:6906"}
xref: UMLS:C1333824 {source="MEDGEN:234311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003342 {source="DOID:6906", source="NCIT:C27496/inferred"} ! benign perivascular tumor

[Term]
id: MONDO:0004036
name: obsolete MONDO:0004036
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006459

[Term]
id: MONDO:0004037
name: retinal edema
subset: otar {source="MONDO:OTAR"}
xref: DOID:6929 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.81 {source="DOID:6929"}
xref: ICD9:362.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6929"}
xref: MEDGEN:69183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010211 {source="DOID:6929", source="MONDO:directSiblingOf"}
xref: SCTID:193426002 {source="DOID:6929"}
xref: SCTID:6141006 {source="MONDO:equivalentTo", source="DOID:6929"}
xref: UMLS:C0242420 {source="MEDGEN:69183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005283 {source="DOID:6929"} ! retinal disorder

[Term]
id: MONDO:0004038
name: dental enamel hypoplasia
def: "Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "enamel hypoplasia" EXACT [DOID:693, NCIT:C34529]
xref: DOID:693 {source="MONDO:equivalentTo"}
xref: EFO:1001304 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:3730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003744 {source="MONDO:equivalentTo", source="DOID:693"}
xref: NCIT:C34529 {source="MONDO:equivalentTo", source="DOID:693"}
xref: SCTID:196277000 {source="DOID:693"}
xref: SCTID:26597004 {source="MONDO:equivalentTo", source="DOID:693"}
xref: SCTID:699382004 {source="DOID:693"}
xref: SCTID:699421005 {source="DOID:693"}
xref: UMLS:C0011351 {source="MONDO:equivalentTo", source="MEDGEN:3730", source="MONDO:MEDGEN"}
is_a: MONDO:0002220 {source="DOID:693"} ! tooth hard tissue disease

[Term]
id: MONDO:0004039
name: papillary extrahepatic bile duct adenocarcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:6931 {source="MONDO:equivalentTo"}
xref: MEDGEN:167831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0861858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167831"}
is_a: MONDO:0002665 {source="DOID:6931"} ! extrahepatic bile duct adenocarcinoma

[Term]
id: MONDO:0004040
name: urinary bladder inverted papilloma
def: "A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." [NCIT:C39859]
synonym: "bladder inverted papilloma" EXACT [NCIT:C39859]
synonym: "urinary bladder inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C39859]
xref: DOID:6932 {source="MONDO:equivalentTo"}
xref: MEDGEN:267740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39859 {source="DOID:6932", source="MONDO:equivalentTo"}
xref: SCTID:447765004 {source="DOID:6932", source="MONDO:equivalentTo"}
xref: UMLS:C1511190 {source="MEDGEN:267740", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000384 {source="DOID:6932", source="MONDO:Entailed", source="NCIT:C39859/inferred"} ! bladder benign neoplasm
is_a: MONDO:0004041 {source="DOID:6932", source="MONDO:Redundant", source="NCIT:C39859/inferred"} ! urothelial papilloma
is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C39859"} ! inverted urothelial papilloma
intersection_of: MONDO:0002537 ! inverted papilloma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0004041
name: urothelial papilloma
def: "A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium." [NCIT:C3842]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder papilloma" EXACT [DOID:6933]
synonym: "bladder transitional cell papilloma" RELATED [DOID:6933]
synonym: "transitional cell papilloma of bladder" EXACT [DOID:6933]
synonym: "uPA" RELATED [ONCOTREE:UPA]
synonym: "urinary bladder urothelial papilloma" RELATED EXCLUDE [DOID:6933]
synonym: "urothelial papilloma" EXACT [NCIT:C3842]
xref: DOID:6933 {source="MONDO:equivalentTo"}
xref: ICDO:8120/1 {source="NCIT:C3842"}
xref: MEDGEN:115999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3842 {source="MONDO:equivalentTo", source="DOID:6933"}
xref: NCIT:C39858 {source="DOID:6933"}
xref: ONCOTREE:UPA {source="MONDO:equivalentTo"}
xref: SCTID:154620001 {source="DOID:6933"}
xref: SCTID:189459005 {source="DOID:6933"}
xref: SCTID:269642004 {source="DOID:6933"}
xref: SCTID:313414002 {source="DOID:6933"}
xref: SCTID:45083001 {source="DOID:6933"}
xref: UMLS:C0235754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:115999"}
is_a: MONDO:0003443 {source="DOID:6933/inferred", source="MONDO:Redundant", source="NCIT:C3842"} ! papillary urothelial neoplasm
is_a: MONDO:0003755 {source="NCIT:C3842"} ! urinary tract non-invasive transitional cell neoplasm
is_a: MONDO:0004180 {source="DOID:6933/inferred", source="MONDO:Redundant", source="NCIT:C3842"} ! benign urinary system neoplasm
is_a: MONDO:0005605 {source="NCIT:C3842"} ! transitional cell papilloma
relationship: disease_arises_from_structure CL:0000731 {source="NCIT:C3842"} ! urothelial cell

[Term]
id: MONDO:0004042
name: urethra inverted papilloma
def: "A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue." [NCIT:C6173]
synonym: "inverted papilloma of the urethra" EXACT [DOID:6934, NCIT:C6173]
synonym: "inverted papilloma of urethra" EXACT [NCIT:C6173]
synonym: "urethra inverted papilloma" EXACT [NCIT:C6173]
synonym: "urethral inverted papilloma" EXACT [NCIT:C6173]
xref: DOID:6934 {source="MONDO:equivalentTo"}
xref: MEDGEN:237034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6173 {source="DOID:6934", source="MONDO:equivalentTo"}
xref: UMLS:C1336887 {source="MEDGEN:237034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002221 {source="DOID:6934", source="MONDO:Redundant", source="NCIT:C6173"} ! urethral urothelial papilloma
is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C6173"} ! inverted urothelial papilloma
intersection_of: MONDO:0002221 {source="NCIT:C6173"} ! urethral urothelial papilloma
intersection_of: MONDO:0002537 {source="NCIT:C6173"} ! inverted papilloma
intersection_of: MONDO:0021109 {source="NCIT:C6173"} ! inverted urothelial papilloma
intersection_of: disease_has_location UBERON:0000057 {source="NCIT:C6173"} ! urethra

[Term]
id: MONDO:0004043
name: ureter inverted papilloma
def: "A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." [NCIT:C6174]
synonym: "inverted papilloma of the ureter" EXACT [NCIT:C6174]
synonym: "inverted papilloma of ureter" EXACT [NCIT:C6174]
synonym: "ureter inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6174]
synonym: "ureteral inverted papilloma" EXACT [DOID:6935, NCIT:C6174]
xref: DOID:6935 {source="MONDO:equivalentTo"}
xref: MEDGEN:277845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6174 {source="MONDO:equivalentTo", source="DOID:6935", source="MONDO:exact-label-match"}
xref: UMLS:C1336874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277845"}
is_a: MONDO:0004044 {source="DOID:6935", source="MONDO:Redundant", source="NCIT:C6174"} ! ureter urothelial papilloma
is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C6174"} ! inverted urothelial papilloma
intersection_of: MONDO:0002537 ! inverted papilloma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0004044
name: ureter urothelial papilloma
def: "A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter." [NCIT:C6160]
synonym: "ureter urothelial papilloma" EXACT [MONDO:patterns/location, NCIT:C6160]
xref: DOID:6936 {source="MONDO:equivalentTo"}
xref: MEDGEN:275548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6160 {source="MONDO:equivalentTo", source="DOID:6936", source="MONDO:exact-label-match"}
xref: UMLS:C1519823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275548"}
is_a: MONDO:0001398 {source="DOID:6936", source="MONDO:Redundant", source="NCIT:C6160"} ! ureter benign neoplasm
is_a: MONDO:0004041 {source="MONDO:Redundant", source="NCIT:C6160"} ! urothelial papilloma
intersection_of: MONDO:0004041 ! urothelial papilloma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0004045
name: pediatric intraocular retinoblastoma
def: "Retinoblastoma during childhood that has not spread beyond the eye." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood intraocular retinoblastoma" EXACT [DOID:6938, NCIT:C9047]
synonym: "intraocular retinoblastoma" BROAD [NCIT:C9047]
synonym: "intraocular retinoblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric intraocular retinoblastoma" EXACT [MONDO:patterns/childhood, NCIT:C9047]
xref: DOID:6938 {source="MONDO:equivalentTo"}
xref: MEDGEN:230836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9047 {source="MONDO:equivalentTo", source="DOID:6938"}
xref: UMLS:C1321869 {source="MEDGEN:230836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003077 {source="DOID:6938", source="MONDO:Redundant", source="NCIT:C9047"} ! intraocular retinoblastoma
is_a: MONDO:0006517 {source="NCIT:C9047"} ! childhood malignant neoplasm
intersection_of: MONDO:0003077 ! intraocular retinoblastoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004046
name: childhood brain meningioma
def: "A brain meningioma that occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Brain meningioma" EXACT [NCIT:C6253]
synonym: "brain paediatric meningioma" EXACT OMO:0003005 []
synonym: "brain pediatric meningioma" EXACT [MONDO:patterns/location]
synonym: "childhood meningioma of brain" EXACT [NCIT:C6253]
synonym: "childhood meningioma of the brain" EXACT [NCIT:C6253]
synonym: "paediatric brain meningioma" EXACT OMO:0003005 []
synonym: "paediatric meningioma of brain" EXACT OMO:0003005 []
synonym: "paediatric meningioma of the brain" EXACT OMO:0003005 []
synonym: "pediatric brain meningioma" EXACT [NCIT:C6253]
synonym: "pediatric meningioma of brain" EXACT [DOID:6939, NCIT:C6253]
synonym: "pediatric meningioma of the brain" EXACT [NCIT:C6253]
xref: DOID:6939 {source="MONDO:equivalentTo"}
xref: MEDGEN:234122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6253 {source="MONDO:equivalentTo", source="DOID:6939"}
xref: UMLS:C1332949 {source="MEDGEN:234122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003057 {source="DOID:6939", source="MONDO:Redundant", source="NCIT:C6253"} ! pediatric meningioma
is_a: MONDO:0850302 {source="DOID:6939", source="MONDO:Redundant"} ! intracranial meningioma
intersection_of: MONDO:0003057 ! pediatric meningioma
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0004047
name: sphenoidal sinus neoplasm
alt_id: MONDO:0021216
def: "A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neoplasm of sphenoid sinus" EXACT [NCIT:C6792]
synonym: "neoplasm of sphenoidal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C6792]
synonym: "neoplasm of the sphenoid sinus" EXACT [NCIT:C6792]
synonym: "neoplasm of the sphenoidal sinus" EXACT [NCIT:C6792]
synonym: "sphenoid sinus neoplasm" EXACT [NCIT:C6792]
synonym: "sphenoid sinus tumor" EXACT [NCIT:C6792]
synonym: "sphenoid sinus tumour" EXACT OMO:0003005 []
synonym: "sphenoidal sinus neoplasm" EXACT [NCIT:C6792]
synonym: "sphenoidal sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sphenoidal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C6792]
synonym: "sphenoidal sinus tumour" EXACT OMO:0003005 []
synonym: "tumor of sphenoid sinus" EXACT [NCIT:C6792]
synonym: "tumor of sphenoidal sinus" EXACT [DOID:6947, MONDO:patterns/neoplasm, NCIT:C6792]
synonym: "tumor of the sphenoid sinus" EXACT [NCIT:C6792]
synonym: "tumor of the sphenoidal sinus" EXACT [NCIT:C6792]
synonym: "tumour of sphenoid sinus" EXACT OMO:0003005 []
synonym: "tumour of sphenoidal sinus" EXACT OMO:0003005 []
synonym: "tumour of the sphenoid sinus" EXACT OMO:0003005 []
synonym: "tumour of the sphenoidal sinus" EXACT OMO:0003005 []
xref: DOID:6947 {source="MONDO:equivalentTo"}
xref: MEDGEN:87511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6792 {source="MONDO:equivalentTo", source="DOID:6947"}
xref: SCTID:126679002 {source="MONDO:equivalentTo", source="DOID:6947"}
xref: UMLS:C0345676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87511"}
is_a: MONDO:0005289 {source="DOID:6947", source="MONDO:Redundant", source="NCIT:C6792"} ! paranasal sinus neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus

[Term]
id: MONDO:0004048
name: immature gastric teratoma
def: "A malignant teratoma that arises from the stomach." [NCIT:C5256]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "immature gastric teratoma" EXACT [NCIT:C5256]
synonym: "malignant gastric teratoma" EXACT [NCIT:C5256]
synonym: "malignant teratoma of stomach" EXACT [DOID:6948, NCIT:C5256]
synonym: "malignant teratoma of the stomach" EXACT [NCIT:C5256]
synonym: "stomach malignant teratoma" EXACT [MONDO:patterns/location]
xref: DOID:6948 {source="MONDO:equivalentTo"}
xref: MEDGEN:272752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5256 {source="MONDO:equivalentTo", source="DOID:6948"}
xref: UMLS:C1334151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272752"}
is_a: MONDO:0003112 {source="DOID:6948", source="MONDO:Redundant", source="NCIT:C5256"} ! malignant gastric germ cell tumor
is_a: MONDO:0003513 {source="DOID:6948", source="MONDO:Redundant", source="NCIT:C5256"} ! gastric teratoma
is_a: MONDO:0003514 {source="DOID:6948", source="MONDO:Redundant"} ! malignant teratoma
intersection_of: MONDO:0003514 ! malignant teratoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0004049
name: combat disorder
def: "Neurotic reactions to unusual, severe, or overwhelming military stress." [MESH:D003130]
synonym: "combat disorder" EXACT [MESH:D003130]
synonym: "combat neuroses" RELATED [MESH:D003130]
synonym: "combat neurosis" EXACT [DOID:6950, MESH:D003130, NCIT:C34498]
synonym: "combat stress disorder" RELATED [MESH:D003130]
synonym: "combat stress disorders" RELATED [MESH:D003130]
synonym: "disorder, combat" RELATED [MESH:D003130]
synonym: "disorder, combat stress" RELATED [MESH:D003130]
synonym: "disorders, combat" RELATED [MESH:D003130]
synonym: "disorders, combat stress" RELATED [MESH:D003130]
synonym: "neuroses, combat" RELATED [MESH:D003130]
synonym: "neuroses, war" RELATED [MESH:D003130]
synonym: "neurosis, combat" RELATED [MESH:D003130]
synonym: "neurosis, war" RELATED [MESH:D003130]
synonym: "shell shock" RELATED [MESH:D003130]
synonym: "shell Shocks" RELATED [MESH:D003130]
synonym: "shock, shell" RELATED [MESH:D003130]
synonym: "Shocks, shell" RELATED [MESH:D003130]
synonym: "stress disorder, combat" RELATED [MESH:D003130]
synonym: "stress disorders, combat" RELATED [MESH:D003130]
synonym: "war neuroses" RELATED [MESH:D003130]
synonym: "war neurosis" RELATED [MESH:D003130]
xref: DOID:6950 {source="MONDO:equivalentTo"}
xref: MEDGEN:40403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003130 {source="DOID:6950", source="MONDO:equivalentTo"}
xref: NCIT:C34498 {source="DOID:6950", source="MONDO:otherHierarchy"}
xref: SCTID:279611005 {source="MONDO:equivalentTo"}
xref: UMLS:C0009426 {source="MEDGEN:40403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003763 {source="DOID:6950", source="MESH:D003130/inferred"} ! acute stress disorder

[Term]
id: MONDO:0004050
name: telangiectatic osteogenic sarcoma
def: "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant bone aneurysm" EXACT [NCIT:C3902]
synonym: "telangiectatic osteosarcoma" EXACT [NCIT:C3902]
synonym: "telangiectatic osteosarcoma (morphologic abnormality)" EXACT [DOID:6951]
synonym: "TEOS" RELATED ABBREVIATION [ONCOTREE:TEOS]
xref: DOID:6951 {source="MONDO:equivalentTo"}
xref: ICDO:9183/3 {source="NCIT:C3902"}
xref: MEDGEN:78059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3902 {source="DOID:6951", source="MONDO:equivalentTo"}
xref: ONCOTREE:TEOS {source="MONDO:equivalentTo"}
xref: SCTID:78453009 {source="DOID:6951"}
xref: UMLS:C0259782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78059"}
is_a: MONDO:0002629 {source="DOID:6951/inferred", source="NCIT:C3902/inferred"} ! bone osteosarcoma
is_a: MONDO:0009807 {source="DOID:6951/inferred", source="NCIT:C3902/inferred", source="ONCOTREE:TEOS"} ! osteosarcoma
relationship: excluded_subClassOf MONDO:0002631 {source="DOID:6951", source="https://orcid.org/0000-0001-5208-3432"} ! conventional osteosarcoma

[Term]
id: MONDO:0004051
name: aleukemic monocytic leukemia cutis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "aleukemic monocytic leukemia cutis" EXACT [NCIT:C5630]
xref: DOID:6958 {source="MONDO:equivalentTo"}
xref: MEDGEN:231050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5630 {source="MONDO:equivalentTo", source="DOID:6958", source="MONDO:exact-label-match"}
xref: UMLS:C1332232 {source="MEDGEN:231050", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003729 {source="DOID:6958", source="NCIT:C5630"} ! aleukemic leukemia cutis
is_a: MONDO:0007896 {source="NCIT:C5630"} ! acute monocytic leukemia

[Term]
id: MONDO:0004052
name: rectal cloacogenic carcinoma
def: "A carcinoma that arises from the transitional zone at the junction of the rectum and anus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cloacogenic carcinoma of rectum" EXACT [NCIT:C5555]
synonym: "cloacogenic carcinoma of the rectum" EXACT [NCIT:C5555]
synonym: "rectal cloacogenic carcinoma" EXACT [NCIT:C5555]
synonym: "rectal transition zone carcinoma" EXACT [NCIT:C5555]
synonym: "rectal transitional zone carcinoma" EXACT [NCIT:C5555]
synonym: "transition zone carcinoma of rectum" EXACT [NCIT:C5555]
synonym: "transition zone carcinoma of the rectum" EXACT [NCIT:C5555]
synonym: "transitional zone carcinoma of rectum" EXACT [DOID:6959, NCIT:C5555]
synonym: "transitional zone carcinoma of the rectum" EXACT [NCIT:C5555]
xref: DOID:6959 {source="MONDO:equivalentTo"}
xref: MEDGEN:234156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5555 {source="MONDO:equivalentTo", source="DOID:6959"}
xref: UMLS:C1333074 {source="MEDGEN:234156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018515 {source="DOID:6959", source="NCIT:C5555"} ! squamous cell carcinoma of rectum

[Term]
id: MONDO:0004053
name: bartholin gland squamous cell carcinoma
def: "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." [NCIT:C40293]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bartholin gland squamous cell carcinoma" EXACT [NCIT:C40293]
synonym: "Bartholin's gland squamous cell carcinoma" EXACT [DOID:6961, MONDO:0006101, NCIT:C40293]
synonym: "major vestibular gland squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6961 {source="MONDO:equivalentTo"}
xref: MEDGEN:307249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40293 {source="DOID:6961", source="MONDO:equivalentTo", source="EFO:1000104"}
xref: UMLS:C1511052 {source="MEDGEN:307249", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002829 {source="DOID:6961", source="MONDO:Redundant", source="NCIT:C40293"} ! bartholin gland carcinoma
is_a: MONDO:0024609 {source="DOID:6961", source="MONDO:Redundant", source="NCIT:C40293"} ! vulvar squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0004054
name: acute canaliculitis
synonym: "acute canaliculitis, lacrimal" EXACT [DOID:6969, ICD9CM:375.31]
synonym: "acute lacrimal canaliculitis" EXACT [DOID:6969]
xref: DOID:6969 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.33 {source="DOID:6969"}
xref: ICD9:375.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6969"}
xref: MEDGEN:572974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:84399007 {source="MONDO:equivalentTo", source="DOID:6969"}
xref: UMLS:C0339130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:572974"}
is_a: MONDO:0004055 {source="DOID:6969"} ! acute inflammation of lacrimal passage
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004055
name: acute inflammation of lacrimal passage
xref: DOID:6970 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.3 {source="DOID:6970"}
xref: ICD9:375.3 {source="DOID:6970"}
xref: MEDGEN:572973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193986007 {source="DOID:6970"}
xref: SCTID:267652006 {source="DOID:6970"}
xref: SCTID:302900006 {source="MONDO:equivalentTo", source="DOID:6970"}
xref: UMLS:C0339129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:572973"}
is_a: MONDO:0001854 {source="DOID:6970"} ! lacrimal apparatus disorder
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004056
name: bladder papillary urothelial carcinoma
def: "An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003" [NCIT:C7383]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bladder papillary urothelial carcinoma" EXACT [NCIT:C7383]
synonym: "bladder urothelial papillary carcinoma" RELATED [DOID:6975]
synonym: "urinary bladder papillary transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "urothelial papillary carcinoma of the bladder" EXACT [DOID:6975, NCIT:C7383]
xref: DOID:6975 {source="MONDO:equivalentTo"}
xref: MEDGEN:309552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7383 {source="DOID:6975", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309552"}
is_a: MONDO:0003442 {source="NCIT:C7383"} ! bladder papillary urothelial neoplasm
is_a: MONDO:0005611 {source="DOID:6975", source="MONDO:Redundant", source="NCIT:C7383"} ! bladder transitional cell carcinoma
is_a: MONDO:0006350 {source="MONDO:Redundant", source="NCIT:C7383"} ! papillary transitional cell carcinoma
intersection_of: MONDO:0006350 ! papillary transitional cell carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0004057
name: micropapillary variant infiltrating bladder urothelial carcinoma
def: "An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating bladder urothelial carcinoma, micropapillary variant" EXACT [NCIT:C27202]
xref: DOID:6976 {source="MONDO:equivalentTo"}
xref: MEDGEN:273397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27202 {source="DOID:6976", source="MONDO:equivalentTo"}
xref: UMLS:C1517579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273397"}
is_a: MONDO:0003890 {source="DOID:6976", source="NCIT:C27202"} ! infiltrating bladder urothelial carcinoma

[Term]
id: MONDO:0004058
name: pancreatic cholera
def: "A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells." [NCIT:P378]
synonym: "excessive vasoactive intestinal peptide secretion" EXACT [DOID:6977]
synonym: "islet cell WDHA syndrome" EXACT [NCIT:C3488]
synonym: "pancreatic WDHA syndrome" EXACT [DOID:6977, NCIT:C3488]
synonym: "Verner Morrison syndrome" EXACT [NCIT:C3488]
synonym: "Verner-Morrison syndrome" RELATED EXCLUDE [DOID:6977]
synonym: "watery diarrhea syndrome" EXACT [NCIT:C3488]
synonym: "watery diarrhea with hypokalemic alkalosis" EXACT [NCIT:C3488]
synonym: "watery diarrhea, hypokalemia, and achlorhydria syndrome" EXACT [NCIT:C3488]
synonym: "watery diarrhoea syndrome" EXACT OMO:0003005 []
synonym: "watery diarrhoea with hypokalemic alkalosis" EXACT OMO:0003005 []
synonym: "WDHA syndrome" EXACT [NCIT:C3488]
synonym: "WDHH" EXACT ABBREVIATION [NCIT:C3488]
xref: DOID:6977 {source="MONDO:equivalentTo"}
xref: ICD9:259.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003969 {source="MONDO:relatedTo", source="DOID:6977"}
xref: NCIT:C3488 {source="MONDO:equivalentTo", source="DOID:6977"}
xref: SCTID:237576001 {source="DOID:6977"}
xref: SCTID:39998009 {source="MONDO:equivalentTo", source="DOID:6977"}
xref: SCTID:70091000 {source="DOID:6977"}
xref: UMLS:C0086768 {source="MEDGEN:39692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001933 {source="DOID:6977"} ! endocrine pancreas disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3946" xsd:anyURI

[Term]
id: MONDO:0004059
name: dentin sensitivity
def: "Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli." [NCIT:P378]
synonym: "sensitive dentin" EXACT [DOID:698]
xref: DOID:698 {source="MONDO:equivalentTo"}
xref: MEDGEN:41477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003807 {source="DOID:698", source="MONDO:equivalentTo"}
xref: NCIT:C50778 {source="DOID:698", source="MONDO:otherHierarchy"}
xref: SCTID:13468005 {source="DOID:698", source="MONDO:equivalentTo"}
xref: UMLS:C0011432 {source="MEDGEN:41477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002220 {source="DOID:698"} ! tooth hard tissue disease

[Term]
id: MONDO:0004060
name: peripheral epithelioid sarcoma
def: "An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "conventional epithelioid sarcoma" EXACT [NCIT:C27473]
synonym: "distal-type epithelioid sarcoma" EXACT [NCIT:C27473]
xref: DOID:6988 {source="MONDO:equivalentTo"}
xref: MEDGEN:232131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27473 {source="MONDO:equivalentTo", source="DOID:6988"}
xref: UMLS:C1333306 {source="MEDGEN:232131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017387 {source="DOID:6988", source="NCIT:C27473"} ! epithelioid sarcoma

[Term]
id: MONDO:0004061
name: obsolete mitochondrial myopathy
is_obsolete: true
replaced_by: MONDO:0009637

[Term]
id: MONDO:0004062
name: intermediate cell type uveal melanoma
def: "Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C7989]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Intermediate cell type intraocular melanoma" EXACT [NCIT:C7989]
synonym: "Intermediate cell type uveal melanoma" EXACT [NCIT:C7989]
synonym: "intraocular mixed cell type melanoma" RELATED [DOID:6992]
synonym: "mixed cell type uveal melanoma" EXACT [DOID:6992, NCIT:C7989]
xref: DOID:6992 {source="MONDO:equivalentTo"}
xref: MEDGEN:76016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7989 {source="MONDO:equivalentTo", source="DOID:6992"}
xref: UMLS:C0279693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76016"}
is_a: MONDO:0006325 {source="DOID:6992", source="MONDO:Redundant", source="NCIT:C7989/inferred"} ! ocular melanoma
is_a: MONDO:0006486 {source="NCIT:C7989"} ! uveal melanoma

[Term]
id: MONDO:0004063
name: intermediate cell type iris melanoma
def: "Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C6101]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Intermediate cell type iris melanoma" EXACT [NCIT:C6101]
synonym: "intermediate cell type uveal melanoma of iris" EXACT [MONDO:design_pattern]
synonym: "iris intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location]
synonym: "iris mixed cell melanoma" RELATED [DOID:6993]
xref: DOID:6993 {source="MONDO:equivalentTo"}
xref: MEDGEN:233564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6101 {source="DOID:6993", source="MONDO:equivalentTo"}
xref: UMLS:C1334210 {source="MONDO:equivalentTo", source="MEDGEN:233564", source="MONDO:MEDGEN"}
is_a: MONDO:0004062 {source="DOID:6993", source="MONDO:Redundant", source="NCIT:C6101"} ! intermediate cell type uveal melanoma
is_a: MONDO:0004064 {source="DOID:6993", source="MONDO:Redundant", source="NCIT:C6101"} ! iris melanoma
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C6101/inferred"} ! uveal melanoma
intersection_of: MONDO:0004062 ! intermediate cell type uveal melanoma
intersection_of: disease_has_location UBERON:0001769 ! iris

[Term]
id: MONDO:0004064
name: iris melanoma
alt_id: MONDO:0021433
def: "A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi." [NCIT:C9088]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "iris malignant melanoma" EXACT [NCIT:C9088]
synonym: "iris melanoma" EXACT [NCIT:C9088]
synonym: "iris melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant iris melanoma" RELATED [DOID:6994]
synonym: "malignant melanoma of iris" EXACT [NCIT:C9088]
synonym: "malignant melanoma of the iris" EXACT [NCIT:C9088]
synonym: "melanoma (disease) of iris" EXACT []
synonym: "melanoma of iris" EXACT [NCIT:C9088]
synonym: "melanoma of the iris" EXACT [DOID:6994, NCIT:C9088]
xref: DOID:6994 {source="MONDO:equivalentTo"}
xref: MEDGEN:87559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9088 {source="DOID:6994", source="MONDO:equivalentTo"}
xref: SCTID:255012009 {source="DOID:6994", source="MONDO:equivalentTo"}
xref: UMLS:C0346373 {source="MEDGEN:87559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002658 {source="DOID:6994", source="MONDO:Redundant", source="NCIT:C9088"} ! iris cancer
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C9088"} ! uveal melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001769 ! iris

[Term]
id: MONDO:0004065
name: intermediate cell type choroid melanoma
def: "Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C6100]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Intermediate cell type choroid melanoma" EXACT [NCIT:C6100]
synonym: "intermediate cell type uveal melanoma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "mixed cell melanoma of choroid" EXACT [DOID:6996, NCIT:C6100]
synonym: "optic choroid intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location]
xref: DOID:6996 {source="MONDO:equivalentTo"}
xref: MEDGEN:272760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6100 {source="DOID:6996", source="MONDO:equivalentTo"}
xref: UMLS:C1334208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272760"}
is_a: MONDO:0003878 {source="DOID:6996", source="MONDO:Redundant", source="NCIT:C6100"} ! malignant choroid melanoma
is_a: MONDO:0004062 {source="DOID:6996", source="MONDO:Redundant", source="NCIT:C6100"} ! intermediate cell type uveal melanoma
intersection_of: MONDO:0004062 ! intermediate cell type uveal melanoma
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0004066
name: intermediate cell type ciliary body melanoma
def: "Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C6118]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ciliary body intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location]
synonym: "Intermediate cell type ciliary body melanoma" EXACT [NCIT:C6118]
synonym: "intermediate cell type uveal melanoma of ciliary body" EXACT [MONDO:design_pattern]
xref: DOID:6997 {source="MONDO:equivalentTo"}
xref: MEDGEN:233563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6118 {source="DOID:6997", source="MONDO:equivalentTo"}
xref: UMLS:C1334209 {source="MEDGEN:233563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003912 {source="DOID:6997", source="MONDO:Redundant", source="NCIT:C6118"} ! malignant ciliary body melanoma
is_a: MONDO:0004062 {source="DOID:6997", source="MONDO:Redundant", source="NCIT:C6118"} ! intermediate cell type uveal melanoma
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C6118/inferred"} ! uveal melanoma
intersection_of: MONDO:0004062 ! intermediate cell type uveal melanoma
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0004067
name: gallbladder mucinous adenocarcinoma
def: "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." [NCIT:C5744]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "colloid carcinoma of gallbladder" EXACT [NCIT:C5744]
synonym: "colloid carcinoma of the gallbladder" EXACT [NCIT:C5744]
synonym: "colloidal carcinoma of gallbladder" EXACT [NCIT:C5744]
synonym: "colloidal carcinoma of the gallbladder" EXACT [DOID:6998, NCIT:C5744]
synonym: "gall bladder mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder colloid carcinoma" EXACT [NCIT:C5744]
synonym: "gallbladder colloidal carcinoma" EXACT [NCIT:C5744]
synonym: "gallbladder mucinous adenocarcinoma" EXACT [NCIT:C5744]
synonym: "gallbladder mucinous carcinoma" RELATED [DOID:6998]
synonym: "mucinous carcinoma of gallbladder" EXACT [NCIT:C5744]
synonym: "mucinous carcinoma of the gallbladder" EXACT [NCIT:C5744]
xref: DOID:6998 {source="MONDO:equivalentTo"}
xref: MEDGEN:234292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5744 {source="DOID:6998", source="MONDO:equivalentTo"}
xref: UMLS:C1333750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234292"}
is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C5744"} ! mucinous adenocarcinoma
is_a: MONDO:0006215 {source="DOID:6998", source="MONDO:Redundant", source="NCIT:C5744"} ! gallbladder adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0004068
name: obsolete disease of anatomical entity
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0004069
name: inborn mitochondrial metabolism disorder
def: "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." [MESH:D028361]
subset: disease_grouping
subset: gard_rare {source="GARD:18887", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:68380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial disease" BROAD [MONDO:0019055]
synonym: "mitochondrial genetic disorders" RELATED [GARD:0007048]
synonym: "mitochondrial metabolism disease" RELATED [DOID:700]
xref: DOID:700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: GARD:18887 {source="MONDO:GARD"}
xref: MEDGEN:1778113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D028361 {source="DOID:700", source="Orphanet:68380", source="MONDO:equivalentTo", source="Orphanet:68380/e"}
xref: NANDO:1200173 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100163 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:68380 {source="MONDO:equivalentTo"}
xref: SCTID:240096000 {source="DOID:700"}
xref: UMLS:C1456275 {source="MEDGEN:1778113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015327 {source="Orphanet:68380"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019243 {source="Orphanet:68380"} ! inborn disorder of energy metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_dysfunction_of GO:0005739 ! mitochondrion
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders" xsd:anyURI {source="GARD:0007048"}

[Term]
id: MONDO:0004070
name: obsolete gemistocytic astrocytoma
is_obsolete: true
replaced_by: MONDO:0016689

[Term]
id: MONDO:0004071
name: childhood cerebral astrocytoma
def: "An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children." [NCIT:C4347]
subset: gard_rare {source="GARD:9302", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebral astrocytoma" BROAD [NCIT:C4347]
synonym: "cerebral astrocytoma, childhood" RELATED [GARD:0009302]
synonym: "childhood astrocytic tumor of telencephalon" EXACT [MONDO:design_pattern]
synonym: "childhood astrocytic tumour of telencephalon" EXACT OMO:0003005 []
synonym: "childhood astrocytoma of cerebrum" EXACT [NCIT:C4347]
synonym: "childhood astrocytoma of the cerebrum" EXACT [NCIT:C4347]
synonym: "paediatric astrocytoma of cerebrum" EXACT OMO:0003005 []
synonym: "paediatric astrocytoma of the cerebrum" EXACT OMO:0003005 []
synonym: "paediatric cerebral astrocytoma" EXACT OMO:0003005 []
synonym: "pediatric astrocytoma of cerebrum" EXACT [DOID:7007, NCIT:C4347]
synonym: "pediatric astrocytoma of the cerebrum" EXACT [NCIT:C4347]
synonym: "pediatric cerebral astrocytoma" EXACT [NCIT:C4347]
synonym: "telencephalon childhood astrocytic tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "telencephalon childhood astrocytic tumour" EXACT OMO:0003005 []
synonym: "telencephalon juvenile astrocytoma" EXACT [MONDO:patterns/location]
xref: DOID:7007 {source="MONDO:equivalentTo"}
xref: GARD:9302 {source="MONDO:GARD"}
xref: MEDGEN:137828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="DOID:7007"}
xref: NCIT:C4347 {source="DOID:7007", source="MONDO:equivalentTo"}
xref: UMLS:C0338070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137828"}
is_a: MONDO:0002505 {source="DOID:7007", source="MONDO:Redundant", source="NCIT:C4347/inferred"} ! childhood astrocytic tumor
is_a: MONDO:0002731 {source="DOID:7007", source="MONDO:Entailed"} ! cerebral hemisphere cancer
is_a: MONDO:0005499 {source="DOID:7007", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0021631 {source="MONDO:Entailed", source="NCIT:C4347/inferred"} ! brain astrocytoma
intersection_of: MONDO:0002505 ! childhood astrocytic tumor
intersection_of: disease_has_location UBERON:0001893 ! telencephalon
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood" xsd:anyURI {source="GARD:0009302"}

[Term]
id: MONDO:0004072
name: obsolete protoplasmic astrocytoma
is_obsolete: true
replaced_by: MONDO:0016687

[Term]
id: MONDO:0004073
name: obsolete dentin dysplasia
is_obsolete: true
replaced_by: MONDO:0015613

[Term]
id: MONDO:0004074
name: ovarian mucinous cystadenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C40041]
synonym: "ovarian mucinous cystadenofibroma" EXACT [NCIT:C40041]
xref: DOID:7013 {source="MONDO:equivalentTo"}
xref: MEDGEN:276670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40041 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7013"}
xref: UMLS:C1518725 {source="MEDGEN:276670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003886 {source="NCIT:C40041"} ! mucinous cystadenofibroma
is_a: MONDO:0003887 {source="DOID:7013", source="NCIT:C40041"} ! ovarian mucinous adenofibroma

[Term]
id: MONDO:0004075
name: infiltrating lipoma
def: "A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas." [NCIT:P378]
synonym: "intramuscular lipoma" EXACT [DOID:7014, NCIT:C7450]
synonym: "intramuscular lipoma (morphologic abnormality)" EXACT [DOID:7014]
xref: DOID:7014 {source="MONDO:equivalentTo"}
xref: MEDGEN:90788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7450 {source="DOID:7014"}
xref: NCIT:C7451 {source="MONDO:equivalentTo", source="DOID:7014"}
xref: SCTID:24045002 {source="DOID:7014"}
xref: UMLS:C0334473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90788"}
is_a: MONDO:0005106 {source="DOID:7014", source="NCIT:C7451/inferred"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0004076
name: tendon sheath lipoma
def: "A benign tumor, composed of mature adipocytes, that arises within the tendon sheath." [NCIT:C6499]
synonym: "lipoma of tendon sheath" EXACT [NCIT:C6499]
synonym: "lipoma of the tendon sheath" EXACT [DOID:7016, NCIT:C6499]
synonym: "tendon sheath lipoma" EXACT [MONDO:patterns/location]
xref: DOID:7016 {source="MONDO:equivalentTo"}
xref: MEDGEN:277806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6499 {source="DOID:7016", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336703 {source="MEDGEN:277806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002528 {source="DOID:7016"} ! synovium neoplasm
is_a: MONDO:0005106 {source="DOID:7016", source="MONDO:Redundant", source="NCIT:C6499/inferred"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0000304 ! tendon sheath

[Term]
id: MONDO:0004077
name: lumbosacral lipoma
def: "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine." [NCIT:C6500]
synonym: "lipoma of sacral region of vertebral column" EXACT []
synonym: "sacral region of vertebral column lipoma" EXACT [MONDO:patterns/location]
xref: DOID:7017 {source="MONDO:equivalentTo"}
xref: MEDGEN:232708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6500 {source="DOID:7017", source="MONDO:equivalentTo"}
xref: UMLS:C1334438 {source="MEDGEN:232708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005106 {source="https://orcid.org/0000-0002-4142-7153"} ! lipoma
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0006075 ! sacral region of vertebral column
relationship: excluded_subClassOf MONDO:0000631 {source="DOID:7017", source="https://orcid.org/0000-0001-5208-3432"} ! bone benign neoplasm

[Term]
id: MONDO:0004078
name: mucinous intrahepatic cholangiocarcinoma
def: "An intrahepatic cholangiocarcinoma that produces abundant mucin." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mucin-producing intrahepatic cholangiocarcinoma" EXACT [NCIT:C41618]
synonym: "mucinous intrahepatic cholangiocarcinoma" EXACT [NCIT:C41618]
xref: DOID:7024 {source="MONDO:equivalentTo"}
xref: MEDGEN:270842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41618 {source="MONDO:equivalentTo", source="DOID:7024"}
xref: UMLS:C1513718 {source="MEDGEN:270842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003210 {source="DOID:7024", source="NCIT:C41618"} ! intrahepatic cholangiocarcinoma
is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C41618"} ! mucinous adenocarcinoma

[Term]
id: MONDO:0004079
name: lung mucous gland adenoma
def: "A benign adenomatous neoplasm that arises from the mucous glands in the bronchus." [NCIT:C5664]
synonym: "adenoma of bronchial mucous gland" EXACT [NCIT:C5664]
synonym: "adenoma of bronchial mucus gland" RELATED [DOID:7030]
synonym: "adenoma of the bronchial mucous gland" EXACT [NCIT:C5664]
synonym: "adenoma of the bronchial mucus gland" EXACT [DOID:7030, NCIT:C5664]
synonym: "bronchial cystadenoma" EXACT [NCIT:C5664]
synonym: "bronchial mucus gland adenoma" RELATED [DOID:7030]
synonym: "lung mucous gland adenoma" EXACT [NCIT:C5664]
synonym: "lung polyadenoma" EXACT [NCIT:C5664]
xref: DOID:7030 {source="MONDO:equivalentTo"}
xref: MEDGEN:234054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5664 {source="MONDO:equivalentTo", source="DOID:7030"}
xref: UMLS:C1332640 {source="MEDGEN:234054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003422 {source="DOID:7030/inferred", source="NCIT:C5664"} ! lung adenoma
is_a: MONDO:0003427 {source="DOID:7030"} ! bronchus adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_arises_from_structure UBERON:0019190 ! mucous gland of lung

[Term]
id: MONDO:0004080
name: glottis squamous cell carcinoma
def: "A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom." [NCIT:C8186]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epidermoid carcinoma of glottis" EXACT [NCIT:C8186]
synonym: "epidermoid carcinoma of the glottis" EXACT [DOID:7031, NCIT:C8186]
synonym: "glottic epidermoid carcinoma" EXACT [NCIT:C8186]
synonym: "glottic squamous cell carcinoma" EXACT [NCIT:C8186]
synonym: "glottis epidermoid carcinoma" EXACT [NCIT:C8186]
synonym: "glottis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8186]
synonym: "squamous cell carcinoma of glottis" EXACT [DOID:7031, NCIT:C8186]
synonym: "squamous cell carcinoma of the glottis" EXACT [NCIT:C8186]
xref: DOID:7031 {source="MONDO:equivalentTo"}
xref: MEDGEN:76096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8186 {source="MONDO:equivalentTo", source="DOID:7031"}
xref: UMLS:C0280325 {source="MEDGEN:76096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002355 {source="DOID:7031", source="MONDO:Redundant", source="NCIT:C8186"} ! glottis carcinoma
is_a: MONDO:0005096 {source="DOID:7031", source="MONDO:Redundant", source="NCIT:C8186/inferred"} ! squamous cell carcinoma
is_a: MONDO:0005595 {source="MONDO:Redundant", source="NCIT:C8186"} ! laryngeal squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002486 ! glottis

[Term]
id: MONDO:0004081
name: extrahepatic bile duct clear cell adenocarcinoma
def: "A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells." [NCIT:C5775]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bile duct clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5775]
synonym: "bile duct clear cell carcinoma" EXACT [DOID:7032, NCIT:C5775]
synonym: "clear cell adenocarcinoma of bile duct" EXACT [NCIT:C5775]
synonym: "clear cell adenocarcinoma of the bile duct" EXACT [NCIT:C5775]
synonym: "clear cell bile duct adenocarcinoma" EXACT [NCIT:C5775]
synonym: "extrahepatic bile duct clear cell adenocarcinoma" EXACT [NCIT:C5775]
xref: DOID:7032 {source="MONDO:equivalentTo"}
xref: MEDGEN:167829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5775 {source="MONDO:equivalentTo", source="DOID:7032"}
xref: UMLS:C0861855 {source="MEDGEN:167829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002665 {source="MONDO:Redundant", source="NCIT:C5775"} ! extrahepatic bile duct adenocarcinoma
is_a: MONDO:0003193 {source="DOID:7032", source="MONDO:Entailed", source="NCIT:C5775/inferred"} ! bile duct adenocarcinoma
is_a: MONDO:0005004 {source="DOID:7032", source="MONDO:Redundant", source="NCIT:C5775"} ! clear cell adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0004082
name: childhood immature teratoma of ovary
def: "An immature teratoma that arises from the ovary and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood immature ovarian teratoma" EXACT [MONDO:design_pattern]
synonym: "childhood immature teratoma of the ovary" EXACT [NCIT:C6547]
synonym: "childhood ovarian immature teratoma" EXACT [NCIT:C6547]
synonym: "immature ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric immature ovarian teratoma" EXACT OMO:0003005 []
synonym: "paediatric immature teratoma of ovary" EXACT OMO:0003005 []
synonym: "paediatric immature teratoma of the ovary" EXACT OMO:0003005 []
synonym: "paediatric ovarian immature teratoma" EXACT OMO:0003005 []
synonym: "pediatric immature ovarian teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric immature teratoma of ovary" EXACT [DOID:7037, NCIT:C6547]
synonym: "pediatric immature teratoma of the ovary" EXACT [NCIT:C6547]
synonym: "pediatric ovarian immature teratoma" EXACT [NCIT:C6547]
xref: DOID:7037 {source="MONDO:equivalentTo"}
xref: MEDGEN:232353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6547 {source="DOID:7037", source="MONDO:equivalentTo"}
xref: UMLS:C1332990 {source="MEDGEN:232353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003819 {source="MONDO:Redundant", source="NCIT:C6547"} ! childhood teratoma of the ovary
is_a: MONDO:0018369 {source="DOID:7037", source="MONDO:Redundant", source="NCIT:C6547"} ! immature ovarian teratoma
intersection_of: MONDO:0018369 ! immature ovarian teratoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004083
name: Borst-Jadassohn intraepidermal carcinoma
def: "A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells." [NCIT:P378]
synonym: "Bowen's disease, clonal" EXACT [DOID:7039]
synonym: "intraepidermal epithelioma of Jadassohn" EXACT [DOID:7039, NCIT:C4110]
xref: DOID:7039 {source="MONDO:equivalentTo"}
xref: ICDO:8096/0 {source="NCIT:C4110"}
xref: MEDGEN:424845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4110 {source="DOID:7039", source="MONDO:equivalentTo"}
xref: SCTID:274897005 {source="DOID:7039"}
xref: SCTID:403886007 {source="DOID:7039", source="MONDO:equivalentTo"}
xref: UMLS:C2937231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424845"}
is_a: MONDO:0002656 {source="DOID:7039"} ! skin carcinoma

[Term]
id: MONDO:0004084
name: obsolete uveal epithelioid cell melanoma
is_obsolete: true
replaced_by: MONDO:0006200

[Term]
id: MONDO:0004085
name: choroid epithelioid cell melanoma
def: "A epithelioid cell melanoma that involves the optic choroid." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "choroid epithelioid cell melanoma" EXACT [NCIT:C6102]
synonym: "choroidal epithelioid cell melanoma" EXACT [DOID:7041, NCIT:C6102]
synonym: "epithelioid cell melanoma of choroid" EXACT [NCIT:C6102]
synonym: "epithelioid cell melanoma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "epithelioid cell melanoma of the choroid" EXACT [NCIT:C6102]
synonym: "optic choroid epithelioid cell melanoma" EXACT [MONDO:patterns/location]
xref: DOID:7041 {source="MONDO:equivalentTo"}
xref: MEDGEN:232360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6102 {source="MONDO:equivalentTo", source="DOID:7041"}
xref: UMLS:C1333024 {source="MEDGEN:232360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002973 {source="DOID:7041", source="MONDO:Redundant", source="NCIT:C6102/inferred"} ! epithelioid cell melanoma
is_a: MONDO:0003878 {source="DOID:7041", source="MONDO:Redundant", source="NCIT:C6102"} ! malignant choroid melanoma
is_a: MONDO:0006200 {source="MONDO:Redundant", source="NCIT:C6102"} ! epithelioid cell uveal melanoma
intersection_of: MONDO:0002973 ! epithelioid cell melanoma
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0004086
name: ciliary body epithelioid cell melanoma
def: "A epithelioid cell melanoma that involves the ciliary body." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ciliary body epithelioid cell melanoma" EXACT [MONDO:patterns/location]
synonym: "epithelioid cell melanoma of ciliary body" EXACT [NCIT:C6119]
synonym: "epithelioid cell melanoma of the ciliary body" EXACT [NCIT:C6119]
xref: DOID:7042 {source="MONDO:equivalentTo"}
xref: MEDGEN:272484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6119 {source="MONDO:equivalentTo", source="DOID:7042"}
xref: UMLS:C1333050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272484"}
is_a: MONDO:0002973 {source="DOID:7042", source="MONDO:Redundant", source="NCIT:C6119/inferred"} ! epithelioid cell melanoma
is_a: MONDO:0003912 {source="DOID:7042", source="MONDO:Redundant", source="NCIT:C6119"} ! malignant ciliary body melanoma
is_a: MONDO:0006200 {source="DOID:7042", source="MONDO:Redundant", source="NCIT:C6119"} ! epithelioid cell uveal melanoma
intersection_of: MONDO:0002973 ! epithelioid cell melanoma
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0004087
name: basaloid large cell lung carcinoma
def: "A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis." [NCIT:C7266]
subset: otar {source="MONDO:OTAR"}
synonym: "basaloid large cell carcinoma of the lung" RELATED [ONCOTREE:BLCLC]
synonym: "basaloid large cell lung carcinoma" EXACT [NCIT:C7266]
synonym: "basaloid lung carcinoma" RELATED [DOID:7045]
xref: DOID:7045 {source="MONDO:equivalentTo"}
xref: MEDGEN:231419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7266 {source="MONDO:equivalentTo", source="DOID:7045"}
xref: ONCOTREE:BLCLC {source="MONDO:equivalentTo"}
xref: UMLS:C1332463 {source="MEDGEN:231419", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003050 {source="MONDO:Redundant", source="NCIT:C7266", source="ONCOTREE:BLCLC"} ! lung large cell carcinoma
is_a: MONDO:0006102 {source="MONDO:Redundant", source="NCIT:C7266"} ! basaloid carcinoma
intersection_of: MONDO:0003050 {source="NCIT:C7266"} ! lung large cell carcinoma
intersection_of: MONDO:0006102 {source="NCIT:C7266"} ! basaloid carcinoma
relationship: excluded_subClassOf MONDO:0005097 {source="DOID:7045", source="https://orcid.org/0000-0001-5208-3432"} ! squamous cell lung carcinoma

[Term]
id: MONDO:0004088
name: cervical basaloid carcinoma
def: "An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm." [NCIT:C40189]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical basaloid carcinoma" EXACT [NCIT:C40189]
synonym: "cervical basaloid squamous cell carcinoma" EXACT [NCIT:C40189]
xref: DOID:7046 {source="MONDO:equivalentTo"}
xref: MEDGEN:267027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40189 {source="MONDO:equivalentTo", source="DOID:7046"}
xref: UMLS:C1511063 {source="MEDGEN:267027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003486 {source="MONDO:Redundant", source="NCIT:C40189"} ! basaloid squamous cell carcinoma
is_a: MONDO:0006143 {source="DOID:7046", source="MONDO:Redundant", source="NCIT:C40189"} ! cervical squamous cell carcinoma
intersection_of: MONDO:0003486 ! basaloid squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0004089
name: basaloid carcinoma of the penis
def: "An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present." [NCIT:C6980]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "basaloid carcinoma of penis" EXACT [NCIT:C6980]
synonym: "basaloid carcinoma of the penis" EXACT [NCIT:C6980]
synonym: "basaloid penile squamous cell carcinoma" EXACT [NCIT:C6980]
synonym: "basaloid squamous cell carcinoma of penis" EXACT [NCIT:C6980]
synonym: "basaloid squamous cell carcinoma of the penis" EXACT [NCIT:C6980]
synonym: "BPSCC" RELATED ABBREVIATION [ONCOTREE:BPSCC]
synonym: "penis basaloid carcinoma" RELATED [DOID:7047]
synonym: "penis basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of penis, basaloid type" EXACT [DOID:7047, NCIT:C6980]
synonym: "squamous cell carcinoma of the penis, basaloid type" EXACT [NCIT:C6980]
xref: DOID:7047 {source="MONDO:equivalentTo"}
xref: MEDGEN:231418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6980 {source="MONDO:equivalentTo", source="DOID:7047"}
xref: ONCOTREE:BPSCC {source="MONDO:equivalentTo"}
xref: UMLS:C1332462 {source="MEDGEN:231418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003486 {source="DOID:7047", source="MONDO:Redundant", source="NCIT:C6980"} ! basaloid squamous cell carcinoma
is_a: MONDO:0018352 {source="DOID:7047", source="MONDO:Redundant", source="NCIT:C6980/inferred", source="ONCOTREE:BPSCC"} ! squamous cell carcinoma of penis
is_a: MONDO:0020656 {source="NCIT:C6980"} ! human papillomavirus-related penile squamous cell carcinoma
intersection_of: MONDO:0003486 ! basaloid squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0004090
name: vulvar basaloid squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "vulvar basaloid carcinoma" EXACT [DOID:7048, NCIT:C40286]
synonym: "vulvar basaloid squamous cell carcinoma" EXACT [NCIT:C40286]
xref: DOID:7048 {source="MONDO:equivalentTo"}
xref: MEDGEN:384496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40286 {source="DOID:7048", source="MONDO:equivalentTo"}
xref: UMLS:C2211850 {source="MEDGEN:384496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003486 {source="MONDO:Redundant", source="NCIT:C40286"} ! basaloid squamous cell carcinoma
is_a: MONDO:0024609 {source="DOID:7048", source="MONDO:Redundant", source="NCIT:C40286"} ! vulvar squamous cell carcinoma
intersection_of: MONDO:0003486 ! basaloid squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0004091
name: skin basaloid carcinoma
def: "A basaloid squamous cell carcinoma that involves the zone of skin." [MONDO:patterns/location]
synonym: "basaloid skin squamous cell carcinoma" EXACT [NCIT:C27543]
synonym: "basaloid squamous cell skin carcinoma" RELATED [DOID:7049]
synonym: "skin basaloid carcinoma" EXACT [NCIT:C27543]
synonym: "skin basaloid squamous cell carcinoma" EXACT [DOID:7049, NCIT:C27543]
synonym: "zone of skin basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7049 {source="MONDO:equivalentTo"}
xref: MEDGEN:233446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27543 {source="DOID:7049", source="MONDO:equivalentTo"}
xref: UMLS:C1335973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233446"}
is_a: MONDO:0002529 {source="DOID:7049", source="MONDO:Redundant", source="NCIT:C27543"} ! skin squamous cell carcinoma
is_a: MONDO:0003486 {source="DOID:7049", source="MONDO:Redundant", source="NCIT:C27543"} ! basaloid squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C27543"} ! keratinizing squamous cell carcinoma
intersection_of: MONDO:0003486 ! basaloid squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0004092
name: thymic basaloid carcinoma
def: "A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases." [NCIT:C6456]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "basaloid carcinoma of the Thymus" EXACT [DOID:7050, NCIT:C6456]
synonym: "basaloid carcinoma of Thymus" EXACT [NCIT:C6456]
synonym: "thymic basaloid carcinoma" EXACT [NCIT:C6456]
synonym: "Thymus basaloid carcinoma" EXACT [NCIT:C6456]
synonym: "thymus basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7050 {source="MONDO:equivalentTo"}
xref: MEDGEN:231420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6456 {source="DOID:7050", source="MONDO:equivalentTo"}
xref: UMLS:C1332464 {source="MEDGEN:231420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003486 {source="DOID:7050", source="MONDO:Redundant", source="NCIT:C6456"} ! basaloid squamous cell carcinoma
is_a: MONDO:0003493 {source="DOID:7050", source="MONDO:Redundant", source="NCIT:C6456"} ! thymus squamous cell carcinoma
intersection_of: MONDO:0003486 ! basaloid squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0004093
name: esophageal basaloid carcinoma
def: "A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)" [NCIT:C7032]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basaloid squamous carcinoma of esophagus" EXACT [DOID:7051, NCIT:C7032]
synonym: "basaloid squamous carcinoma of oesophagus" EXACT OMO:0003005 []
synonym: "basaloid squamous carcinoma of the esophagus" RELATED [NCIT:C7032]
synonym: "basaloid squamous carcinoma of the oesophagus" RELATED OMO:0003005 []
synonym: "esophageal basaloid cancer" EXACT [NCIT:C7032]
synonym: "esophageal basaloid carcinoma" EXACT [NCIT:C7032]
synonym: "esophageal basaloid squamous cell carcinoma" RELATED [NCIT:C7032]
xref: DOID:7051 {source="MONDO:equivalentTo"}
xref: MEDGEN:232156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7032 {source="NCIT:C7032", source="MONDO:equivalentTo", source="DOID:7051"}
xref: UMLS:C1333443 {source="MONDO:equivalentTo", source="MEDGEN:232156", source="MONDO:MEDGEN"}
is_a: MONDO:0003486 {source="MONDO:Redundant", source="NCIT:C7032"} ! basaloid squamous cell carcinoma
is_a: MONDO:0005580 {source="DOID:7051", source="MONDO:Redundant", source="NCIT:C7032"} ! esophageal squamous cell carcinoma
intersection_of: MONDO:0003486 {source="NCIT:C7032"} ! basaloid squamous cell carcinoma
intersection_of: MONDO:0005580 {source="NCIT:C7032"} ! esophageal squamous cell carcinoma

[Term]
id: MONDO:0004094
name: multiple skull base meningioma
def: "Multiple meningiomas that affect the skull base." [NCIT:C5279]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "multiple skull base meningiomas" RELATED [NCIT:C5279]
xref: DOID:7054 {source="MONDO:equivalentTo"}
xref: MEDGEN:233723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5279 {source="MONDO:equivalentTo", source="DOID:7054"}
xref: UMLS:C1334829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233723"}
is_a: MONDO:0002998 {source="DOID:7054", source="NCIT:C5279"} ! skull base meningioma

[Term]
id: MONDO:0004095
name: B-cell neoplasm
def: "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes." [MESH:D016393]
subset: gard_rare {source="GARD:5877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B-cell lymphocytic neoplasm" EXACT [DOID:707, NCIT:C27907]
synonym: "B-cell lymphoma" RELATED [DOID:707]
synonym: "B-cell neoplasm" EXACT [NCIT:C27907]
synonym: "lymphoma, B-cell" RELATED [GARD:0005877]
xref: DOID:707 {source="MONDO:equivalentTo"}
xref: GARD:5877 {source="MONDO:GARD"}
xref: MEDGEN:86953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016393 {source="MONDO:equivalentTo", source="DOID:707"}
xref: NCIT:C27907 {source="MONDO:equivalentTo", source="DOID:707"}
xref: NCIT:C3457 {source="DOID:707"}
xref: SCTID:109979007 {source="DOID:707"}
xref: SCTID:1929004 {source="DOID:707"}
xref: SCTID:413616009 {source="DOID:707"}
xref: UMLS:C0079731 {source="MEDGEN:86953", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004805 {source="DOID:707", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder
is_a: MONDO:0005062 {source="DOID:707/inferred", source="MESH:D016393/inferred", source="MONDO:Redundant"} ! lymphoma
is_a: MONDO:0005157 {source="MONDO:Redundant", source="NCIT:C27907"} ! lymphoid neoplasm
intersection_of: MONDO:0005062 {source="NCIT:C27907"} ! lymphoma
intersection_of: MONDO:0005157 {source="NCIT:C27907"} ! lymphoid neoplasm
intersection_of: disease_arises_from_structure CL:0000236 {source="NCIT:C27907"} ! B cell
intersection_of: disease_has_location CL:0000236 {source="NCIT:C27907"} ! B cell
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma" xsd:anyURI {source="GARD:0005877"}

[Term]
id: MONDO:0004096
name: spinal cord dermoid cyst
def: "A dermoid cyst that involves the spinal cord." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "dermoid cyst of spinal cord" EXACT [NCIT:C6808]
synonym: "dermoid cyst of the spinal cord" EXACT [NCIT:C6808]
synonym: "spinal cord dermoid" EXACT [DOID:7071, NCIT:C6808]
synonym: "spinal cord dermoid cyst" EXACT [MONDO:patterns/location]
xref: DOID:7071 {source="MONDO:equivalentTo"}
xref: MEDGEN:232125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6808 {source="MONDO:equivalentTo", source="DOID:7071"}
xref: UMLS:C1333278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232125"}
is_a: MONDO:0002378 {source="DOID:7071", source="MONDO:Redundant", source="NCIT:C6808/inferred"} ! dermoid cyst
is_a: MONDO:0002718 {source="DOID:7071", source="MONDO:Redundant", source="NCIT:C6808/inferred"} ! central nervous system teratoma
intersection_of: MONDO:0002378 ! dermoid cyst
intersection_of: disease_has_location UBERON:0002240 ! spinal cord
relationship: excluded_subClassOf MONDO:0003544 {source="DOID:7071", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer

[Term]
id: MONDO:0004097
name: obsolete lipid-rich breast carcinoma
is_obsolete: true
replaced_by: MONDO:0021090

[Term]
id: MONDO:0004098
name: malignant melanocytic peripheral nerve sheath tumor of mediastinum
def: "A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant mediastinal melanocytic peripheral nerve sheath tumor" EXACT [NCIT:C6630]
synonym: "malignant mediastinal melanocytic peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum" EXACT [MONDO:design_pattern]
synonym: "malignant melanocytic peripheral nerve sheath tumor of mediastinum" EXACT [NCIT:C6630]
synonym: "malignant melanotic peripheral nerve sheath tumor of the mediastinum" EXACT [NCIT:C6630]
synonym: "malignant melanotic peripheral nerve sheath tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "mediastinal melanocytic MPNST" EXACT [DOID:7077, NCIT:C6630]
synonym: "mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:7077 {source="MONDO:equivalentTo"}
xref: MEDGEN:233154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6630 {source="MONDO:equivalentTo", source="DOID:7077"}
xref: UMLS:C1334600 {source="MEDGEN:233154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003863 {source="MONDO:Redundant", source="NCIT:C6630"} ! malignant melanocytic neoplasm of the peripheral nerve sheath
is_a: MONDO:0005843 {source="DOID:7077", source="MONDO:Redundant", source="NCIT:C6630/inferred"} ! mediastinal cancer
intersection_of: MONDO:0003863 ! malignant melanocytic neoplasm of the peripheral nerve sheath
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0004099
name: adult cystic teratoma
def: "A cystic teratoma that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult cystic teratoma" EXACT [NCIT:C9012]
synonym: "cystic teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7079 {source="MONDO:equivalentTo"}
xref: MEDGEN:235084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9012 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7079"}
xref: SCTID:42717009 {source="DOID:7079"}
xref: UMLS:C1368888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235084"}
is_a: MONDO:0002379 {source="DOID:7079", source="MONDO:Redundant", source="NCIT:C9012"} ! cystic teratoma
is_a: MONDO:0003516 {source="MONDO:Redundant", source="NCIT:C9012"} ! adult teratoma
intersection_of: MONDO:0002379 ! cystic teratoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004100
name: lung mixed small cell and squamous cell carcinoma
def: "A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "combined small and large cell lung cancer" RELATED EXCLUDE [DOID:7081]
synonym: "combined small cell and squamous cell lung carcinoma" EXACT [NCIT:C9423]
synonym: "mixed small cell and squamous cell carcinoma of lung" RELATED [DOID:7081]
synonym: "mixed small cell and squamous cell carcinoma of the lung" EXACT [NCIT:C9423]
synonym: "small cell and large cell carcinoma of the lung" RELATED [DOID:7081, NCIT:C9424]
synonym: "small cell and squamous cell carcinoma of lung" EXACT [NCIT:C9423]
synonym: "small cell and squamous cell carcinoma of the lung" EXACT [DOID:7081, NCIT:C9423]
synonym: "small cell and squamous cell lung carcinoma" EXACT [NCIT:C9423]
xref: DOID:7081 {source="MONDO:equivalentTo"}
xref: MEDGEN:235331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9423 {source="DOID:7081", source="MONDO:equivalentTo"}
xref: UMLS:C1334788 {source="MEDGEN:235331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005454 {source="DOID:7081", source="NCIT:C9423/inferred"} ! lung neuroendocrine neoplasm

[Term]
id: MONDO:0004101
name: multicentric papillary thyroid carcinoma
def: "A papillary carcinoma arising from the thyroid gland from multiple foci." [NCIT:C37304]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "multicentric papillary thyroid carcinoma" EXACT [NCIT:C37304]
synonym: "multicentric papillary thyroid gland carcinoma" EXACT [NCIT:C37304]
synonym: "multicentric thyroid gland papillary carcinoma" EXACT [NCIT:C37304]
xref: DOID:7086 {source="MONDO:equivalentTo"}
xref: MEDGEN:235340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37304 {source="MONDO:equivalentTo", source="DOID:7086"}
xref: UMLS:C1334817 {source="MEDGEN:235340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005075 {source="DOID:7086", source="NCIT:C37304"} ! thyroid gland papillary carcinoma

[Term]
id: MONDO:0004102
name: columnar cell variant thyroid gland papillary carcinoma
def: "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells." [NCIT:C35830]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "columnar cell variant papillary carcinoma" EXACT [NCIT:C35830]
synonym: "columnar cell variant papillary thyroid gland carcinoma" EXACT [NCIT:C35830]
synonym: "columnar cell variant thyroid gland papillary carcinoma" EXACT [NCIT:C35830]
xref: DOID:7088 {source="MONDO:equivalentTo"}
xref: ICDO:8344/3 {source="NCIT:C35830"}
xref: MEDGEN:272499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35830 {source="MONDO:equivalentTo", source="DOID:7088"}
xref: UMLS:C1333120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272499"}
is_a: MONDO:0005075 {source="DOID:7088", source="NCIT:C35830"} ! thyroid gland papillary carcinoma

[Term]
id: MONDO:0004103
name: tall cell variant thyroid gland papillary carcinoma
def: "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present." [NCIT:C35558]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tall cell variant papillary carcinoma" EXACT [NCIT:C35558]
synonym: "tall cell variant thyroid gland papillary carcinoma" EXACT [NCIT:C35558]
xref: DOID:7089 {source="MONDO:equivalentTo"}
xref: MEDGEN:234416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35558 {source="MONDO:equivalentTo", source="DOID:7089"}
xref: UMLS:C1336695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234416"}
is_a: MONDO:0005075 {source="DOID:7089", source="NCIT:C35558"} ! thyroid gland papillary carcinoma

[Term]
id: MONDO:0004104
name: splenic manifestation of hairy cell leukemia
def: "A hairy cell leukemia that involves the spleen." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hairy cell leukaemia of spleen" EXACT OMO:0003005 []
synonym: "hairy cell leukemia of spleen" EXACT [DOID:709]
synonym: "spleen hairy cell leukaemia" EXACT OMO:0003005 []
synonym: "spleen hairy cell leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "splenic manifestation of hairy cell leukemia" EXACT [NCIT:C7301]
xref: DOID:709 {source="MONDO:equivalentTo"}
xref: ICD9:202.47 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:234812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7301 {source="MONDO:equivalentTo", source="DOID:709", source="MONDO:exact-label-match"}
xref: SCTID:93151007 {source="MONDO:equivalentTo", source="DOID:709"}
xref: UMLS:C1336064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234812"}
is_a: MONDO:0004107 {source="DOID:709", source="MONDO:Redundant", source="NCIT:C7301"} ! splenic manifestation of leukemia
is_a: MONDO:0018935 {source="MONDO:Redundant", source="NCIT:C7301"} ! hairy cell leukemia
intersection_of: MONDO:0018935 ! hairy cell leukemia
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0004105
name: childhood epithelioid sarcoma
def: "An epithelioid sarcoma occurring in childhood." [NCIT:C8095]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood epithelioid sarcoma" EXACT [NCIT:C8095]
synonym: "epithelioid sarcoma" BROAD [NCIT:C8095]
synonym: "epithelioid sarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric epithelioid sarcoma" EXACT OMO:0003005 []
synonym: "pediatric epithelioid sarcoma" EXACT [MONDO:patterns/childhood, NCIT:C8095]
xref: DOID:7095 {source="MONDO:equivalentTo"}
xref: MEDGEN:76055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8095 {source="MONDO:equivalentTo", source="DOID:7095"}
xref: UMLS:C0279989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76055"}
is_a: MONDO:0017387 {source="DOID:7095", source="MONDO:Redundant", source="NCIT:C8095"} ! epithelioid sarcoma
intersection_of: MONDO:0017387 ! epithelioid sarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004106
name: testicular yolk sac tumor, macrocystic pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces." [NCIT:C39924]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "macrocystic pattern testicular yolk sac tumor" RELATED [DOID:7097]
synonym: "macrocystic pattern testicular yolk sac tumour" RELATED OMO:0003005 []
synonym: "testicular yolk sac tumor, macrocystic pattern" EXACT [NCIT:C39924]
xref: DOID:7097 {source="MONDO:equivalentTo"}
xref: MEDGEN:271772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39924 {source="MONDO:equivalentTo", source="NCIT:C39924", source="DOID:7097"}
xref: UMLS:C1515307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271772"}
is_a: MONDO:0003402 {source="DOID:7097", source="NCIT:C39924"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004107
name: splenic manifestation of leukemia
def: "A leukemia (disease) that involves the spleen." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leukaemia (disease) of spleen" EXACT OMO:0003005 []
synonym: "leukemia (disease) of spleen" EXACT []
synonym: "spleen leukaemia (disease)" EXACT OMO:0003005 []
synonym: "spleen leukemia (disease)" EXACT [MONDO:patterns/location]
synonym: "splenic leukaemia" RELATED OMO:0003005 []
synonym: "splenic leukemia" RELATED [DOID:710]
synonym: "splenic manifestation of leukemia" EXACT [NCIT:C7296]
xref: DOID:710 {source="MONDO:equivalentTo"}
xref: MEDGEN:234813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7296 {source="DOID:710", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234813"}
is_a: MONDO:0005059 {source="MONDO:Redundant", source="NCIT:C7296"} ! leukemia
is_a: MONDO:0005966 {source="DOID:710", source="MONDO:Entailed", source="NCIT:C7296"} ! spleen cancer
intersection_of: MONDO:0005059 ! leukemia
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0004108
name: diaphragma sellae meningioma
def: "A meningioma that affects the diaphragma sellae." [NCIT:C5283]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diaphragm sellae meningioma" EXACT [NCIT:C5283]
synonym: "diaphragma sellae meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of diaphragma sellae" EXACT []
synonym: "meningioma of diaphragm sellae" EXACT [DOID:7103, NCIT:C5283]
synonym: "meningioma of Diaphragma sellae" EXACT [NCIT:C5283]
synonym: "meningioma of the diaphragm sellae" EXACT [NCIT:C5283]
synonym: "meningioma of the Diaphragma sellae" EXACT [NCIT:C5283]
xref: DOID:7103 {source="MONDO:equivalentTo"}
xref: MEDGEN:234200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5283 {source="DOID:7103", source="MONDO:equivalentTo"}
xref: UMLS:C1333283 {source="MEDGEN:234200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002720 {source="DOID:7103", source="NCIT:C5283"} ! sella turcica neoplasm
is_a: MONDO:0002998 {source="DOID:7103", source="MONDO:Redundant", source="NCIT:C5283"} ! skull base meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0035416 ! diaphragma sellae

[Term]
id: MONDO:0004109
name: epiglottis neoplasm
alt_id: MONDO:0021347
def: "A benign or malignant neoplasm that affects the epiglottis." [NCIT:P378]
synonym: "epiglottic neoplasm" EXACT [NCIT:C4933]
synonym: "epiglottic tumor" EXACT [DOID:7105, NCIT:C4933]
synonym: "epiglottic tumour" EXACT OMO:0003005 []
synonym: "epiglottis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Epiglottis tumor" EXACT [NCIT:C4933]
synonym: "epiglottis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Epiglottis tumour" EXACT OMO:0003005 []
synonym: "epiglottis tumour" EXACT OMO:0003005 []
synonym: "neoplasm of Epiglottis" EXACT [NCIT:C4933]
synonym: "neoplasm of epiglottis" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Epiglottis" EXACT [NCIT:C4933]
synonym: "tumor of Epiglottis" EXACT [NCIT:C4933]
synonym: "tumor of epiglottis" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Epiglottis" EXACT [NCIT:C4933]
synonym: "tumour of Epiglottis" EXACT OMO:0003005 []
synonym: "tumour of epiglottis" EXACT OMO:0003005 []
synonym: "tumour of the Epiglottis" EXACT OMO:0003005 []
xref: DOID:7105 {source="MONDO:equivalentTo"}
xref: MEDGEN:266215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4933 {source="DOID:7105", source="MONDO:equivalentTo"}
xref: SCTID:126699008 {source="DOID:7105", source="MONDO:equivalentTo"}
xref: UMLS:C1290353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266215"}
is_a: MONDO:0004427 {source="DOID:7105", source="NCIT:C4933"} ! supraglottis neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000388 ! epiglottis

[Term]
id: MONDO:0004110
name: refractory hairy cell leukemia
def: "Hairy cell leukemia that is resistant to treatment." [NCIT:C8030]
comment: Editor note: TODO refractory DP
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hairy cell leukemia, refractory" EXACT [NCIT:C8030]
synonym: "refractory hairy cell leukemia" EXACT [DOID:711, NCIT:C8030]
xref: DOID:711 {source="MONDO:equivalentTo"}
xref: MEDGEN:1639342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8030 {source="DOID:711", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C4551546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639342"}
is_a: MONDO:0004111 {source="DOID:711", source="MONDO:Redundant", source="NCIT:C8030", source="NCIT:C8030/inferred"} ! refractory hematologic cancer
is_a: MONDO:0018935 {source="DOID:711", source="MONDO:Redundant", source="NCIT:C8030"} ! hairy cell leukemia
intersection_of: MONDO:0018935 ! hairy cell leukemia
intersection_of: has_characteristic HP:0031375 ! Refractory

[Term]
id: MONDO:0004111
name: refractory hematologic cancer
def: "A hematologic malignancy that is resistant to treatment." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "refractory hematologic cancer" EXACT [NCIT:C27357]
synonym: "refractory hematologic malignancy" EXACT [NCIT:C27357]
xref: DOID:712 {source="MONDO:equivalentTo"}
xref: MEDGEN:233400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27357 {source="DOID:712", source="MONDO:equivalentTo"}
xref: UMLS:C1335724 {source="MEDGEN:233400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002334 {source="DOID:712", source="NCIT:C27357/inferred"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0044881 {source="NCIT:C27357"} ! hematopoietic and lymphoid cell neoplasm
intersection_of: MONDO:0002334 ! hematopoietic and lymphoid system neoplasm
intersection_of: has_characteristic HP:0031375 ! Refractory

[Term]
id: MONDO:0004112
name: radiation cystitis
def: "Inflammation of the bladder due to irradiation." [NCIT:P378]
synonym: "irradiation cystitis" EXACT [DOID:7127, ICD9CM:595.82]
xref: DOID:7127 {source="MONDO:equivalentTo"}
xref: ICD10CM:N30.4 {source="DOID:7127", source="MONDO:equivalentTo"}
xref: ICD9:595.82 {source="DOID:7127", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123174 {source="DOID:7127", source="MONDO:equivalentTo"}
xref: SCTID:11251000 {source="DOID:7127", source="MONDO:equivalentTo"}
xref: UMLS:C0156270 {source="MEDGEN:510221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006032 {source="DOID:7127", source="NCIT:C123174"} ! cystitis

[Term]
id: MONDO:0004113
name: obsolete HCL-v
is_obsolete: true
replaced_by: MONDO:0017600

[Term]
id: MONDO:0004114
name: urinary bladder small cell neuroendocrine carcinoma
def: "A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ." [NCIT:C9461]
subset: gard_rare {source="GARD:11923", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284400"}
subset: orphanet_rare {source="Orphanet:284400"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bladder small cell neuroendocrine cancer" EXACT [NCIT:C9461]
synonym: "bladder small cell neuroendocrine carcinoma" EXACT [MONDO:0006113, NCIT:C9461]
synonym: "poorly differentiated neuroendocrine carcinoma of the bladder" EXACT [Orphanet:284400]
synonym: "SCCB" EXACT ABBREVIATION [Orphanet:284400]
synonym: "small cell bladder cancer" EXACT [Orphanet:284400]
synonym: "small cell bladder carcinoma" EXACT [Orphanet:284400]
synonym: "small cell carcinoma of the bladder" RELATED [Orphanet:284400]
synonym: "small cell carcinoma of the urinary bladder" EXACT [Orphanet:284400]
synonym: "small cell carcinoma of urinary bladder" EXACT [MONDO:design_pattern]
synonym: "small cell neuroendocrine carcinoma of the urinary bladder" EXACT [DOID:7132, NCIT:C9461]
synonym: "small cell neuroendocrine carcinoma of urinary bladder" EXACT [NCIT:C9461]
synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [DOID:7132, NCIT:C9461]
synonym: "urinary bladder small cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7132 {source="MONDO:equivalentTo"}
xref: EFO:1000129 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:11923 {source="MONDO:GARD"}
xref: ICD10CM:C67.0 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.1 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.2 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.3 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.4 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.5 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.6 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.7 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.8 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: ICD10CM:C67.9 {source="Orphanet:284400", source="Orphanet:284400/btnt"}
xref: MEDGEN:231950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9461 {source="MONDO:equivalentTo", source="DOID:7132", source="EFO:1000129"}
xref: ONCOTREE:SCBC {source="MONDO:equivalentTo"}
xref: Orphanet:284400 {source="MONDO:equivalentTo"}
xref: UMLS:C1332564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231950"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="NCIT:C9461"} ! small cell carcinoma
is_a: MONDO:0004986 {source="DOID:7132", source="EFO:1000129", source="MONDO:Redundant", source="NCIT:C9461"} ! urinary bladder carcinoma
is_a: MONDO:0021066 {source="MONDO:Redundant", source="Orphanet:284400"} ! urinary system neoplasm
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020032"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder" xsd:anyURI {source="GARD:0011923"}

[Term]
id: MONDO:0004115
name: obsolete gallbladder small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006219

[Term]
id: MONDO:0004116
name: esophageal small cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells." [NCIT:C6762]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "esophageal Oat cell carcinoma" EXACT [NCIT:C6762]
synonym: "esophageal small cell carcinoma" EXACT [NCIT:C6762]
synonym: "esophageal small cell NEC" EXACT [NCIT:C6762]
synonym: "esophageal small cell neuroendocrine carcinoma" EXACT [NCIT:C6762]
synonym: "esophagus Oat cell carcinoma" EXACT [NCIT:C6762]
synonym: "esophagus small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6762]
synonym: "Oat cell carcinoma of esophagus" EXACT [DOID:7134, NCIT:C6762]
synonym: "Oat cell carcinoma of oesophagus" EXACT OMO:0003005 []
synonym: "Oat cell carcinoma of the esophagus" EXACT [NCIT:C6762]
synonym: "Oat cell carcinoma of the oesophagus" EXACT OMO:0003005 []
synonym: "oesophagus Oat cell carcinoma" EXACT OMO:0003005 []
synonym: "oesophagus small cell carcinoma" EXACT OMO:0003005 []
synonym: "small cell carcinoma of esophagus" EXACT [NCIT:C6762]
synonym: "small cell carcinoma of oesophagus" EXACT OMO:0003005 []
synonym: "small cell carcinoma of the esophagus" EXACT [NCIT:C6762]
synonym: "small cell carcinoma of the oesophagus" EXACT OMO:0003005 []
synonym: "small cell carcinoma, esophagus" EXACT [NCIT:C6762]
synonym: "small cell carcinoma, oesophagus" EXACT OMO:0003005 []
xref: DOID:7134 {source="MONDO:equivalentTo"}
xref: MEDGEN:207270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6762 {source="MONDO:equivalentTo", source="DOID:7134"}
xref: UMLS:C1112474 {source="MEDGEN:207270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="DOID:7134", source="MONDO:Redundant", source="NCIT:C6762"} ! small cell carcinoma
is_a: MONDO:0019086 {source="DOID:7134", source="MONDO:Redundant", source="NCIT:C6762/inferred"} ! carcinoma of esophagus
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0004117
name: ampulla of vater small cell neuroendocrine carcinoma
def: "An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C6655]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ampulla of Vater small cell carcinoma" EXACT [NCIT:C6655]
synonym: "ampulla of Vater small cell NEC" EXACT [NCIT:C6655]
synonym: "ampulla of Vater small cell neuroendocrine carcinoma" EXACT [NCIT:C6655]
synonym: "ampullary small cell carcinoma" EXACT [DOID:7136, NCIT:C6655]
synonym: "hepatopancreatic ampulla small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "small cell neuroendocrine carcinoma of the ampullary region" EXACT [NCIT:C6655]
xref: DOID:7136 {source="MONDO:equivalentTo"}
xref: MEDGEN:233974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6655 {source="DOID:7136", source="MONDO:equivalentTo"}
xref: UMLS:C1332250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233974"}
is_a: MONDO:0000402 {source="DOID:7136", source="MONDO:Redundant", source="NCIT:C6655"} ! small cell carcinoma
is_a: MONDO:0017590 {source="DOID:7136", source="MONDO:Redundant", source="NCIT:C6655/inferred"} ! carcinoma of the ampulla of vater
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: MONDO:0002120 ! neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla

[Term]
id: MONDO:0004118
name: cystitis cystica
def: "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells." [NCIT:P378]
xref: DOID:7138 {source="MONDO:equivalentTo"}
xref: ICD9:595.81 {source="DOID:7138", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:472898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96230 {source="DOID:7138", source="MONDO:equivalentTo"}
xref: SCTID:13285005 {source="DOID:7138", source="MONDO:equivalentTo"}
xref: UMLS:C0152262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:472898"}
is_a: MONDO:0006032 {source="DOID:7138", source="NCIT:C96230/inferred"} ! cystitis

[Term]
id: MONDO:0004119
name: obsolete endometrial small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006197

[Term]
id: MONDO:0004120
name: Bartholin gland small cell carcinoma
def: "A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Bartholin gland small cell carcinoma" EXACT [DOID:7140, NCIT:C40298]
synonym: "Bartholin's gland small cell carcinoma" EXACT [NCIT:C40298]
synonym: "major vestibular gland small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "small cell carcinoma of major vestibular gland" EXACT [MONDO:design_pattern]
xref: DOID:7140 {source="MONDO:equivalentTo"}
xref: MEDGEN:267705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40298 {source="MONDO:equivalentTo", source="DOID:7140"}
xref: UMLS:C1511051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267705"}
is_a: MONDO:0000402 {source="DOID:7140", source="MONDO:Redundant", source="NCIT:C40298/inferred"} ! small cell carcinoma
is_a: MONDO:0002829 {source="DOID:7140", source="MONDO:Redundant", source="NCIT:C40298"} ! bartholin gland carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0004121
name: obsolete prostate small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006390

[Term]
id: MONDO:0004122
name: thymus small cell carcinoma
def: "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "small cell carcinoma of the Thymus" EXACT [DOID:7142, NCIT:C6460]
synonym: "small cell carcinoma of Thymus" EXACT [NCIT:C6460]
synonym: "small cell carcinoma of thymus" EXACT []
synonym: "thymic small cell carcinoma" EXACT [MONDO:0006453, NCIT:C6460]
synonym: "thymic small cell carcinoma neuroendocrine type" EXACT [NCIT:C6460]
synonym: "Thymus small cell carcinoma" EXACT [NCIT:C6460]
synonym: "thymus small cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7142 {source="MONDO:equivalentTo"}
xref: EFO:1000578 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6460 {source="MONDO:equivalentTo", source="DOID:7142", source="EFO:1000578"}
xref: UMLS:C1335980 {source="MEDGEN:234784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="DOID:7142", source="MONDO:Redundant", source="NCIT:C6460"} ! small cell carcinoma
is_a: MONDO:0006451 {source="DOID:7142", source="MONDO:Entailed", source="NCIT:C6460"} ! thymic carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0004123
name: obsolete laryngeal small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0006265

[Term]
id: MONDO:0004124
name: prostate stromal sarcoma
def: "A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism." [NCIT:C5524]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "prostate stromal sarcoma" EXACT [NCIT:C5524]
synonym: "stromal sarcoma of prostate" EXACT [NCIT:C5524]
synonym: "stromal sarcoma of the prostate" EXACT [DOID:7152, NCIT:C5524]
xref: DOID:7152 {source="MONDO:equivalentTo"}
xref: MEDGEN:233359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5524 {source="MONDO:equivalentTo", source="DOID:7152", source="MONDO:exact-label-match"}
xref: UMLS:C1335521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233359"}
is_a: MONDO:0002854 {source="DOID:7152", source="MONDO:Redundant", source="NCIT:C5524"} ! prostate sarcoma
is_a: MONDO:0044337 {source="MONDO:Redundant", source="NCIT:C5524"} ! stromal sarcoma
intersection_of: MONDO:0044337 ! stromal sarcoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0004125
name: rectum leiomyoma
def: "A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378]
synonym: "leiomyoma of rectum" EXACT [DOID:7160, NCIT:C5552]
synonym: "leiomyoma of the rectum" EXACT [NCIT:C5552]
synonym: "rectal leiomyoma" EXACT [NCIT:C5552]
synonym: "rectum leiomyoma" EXACT [MONDO:patterns/location]
xref: DOID:7160 {source="MONDO:equivalentTo"}
xref: MEDGEN:233390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5552 {source="DOID:7160", source="MONDO:equivalentTo"}
xref: UMLS:C1335682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233390"}
is_a: MONDO:0002165 {source="MONDO:Redundant", source="NCIT:C5552/inferred"} ! rectal neoplasm
is_a: MONDO:0003299 {source="DOID:7160", source="MONDO:Redundant", source="NCIT:C5552"} ! colorectal leiomyoma
is_a: MONDO:0021462 {source="MONDO:Redundant", source="NCIT:C5552"} ! benign neoplasm of rectum
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0004126
name: thyroiditis
def: "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of thyroid gland" EXACT []
synonym: "thyroid gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "thyroiditis" EXACT [MONDO:ambiguous]
synonym: "thyroiditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:7166 {source="MONDO:equivalentTo"}
xref: HP:0100646 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E06 {source="DOID:7166"}
xref: ICD10CM:E06.9 {source="DOID:7166"}
xref: ICD9:245 {source="DOID:7166"}
xref: ICD9:245.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:7166"}
xref: MEDGEN:21548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013966 {source="MONDO:equivalentTo", source="DOID:7166"}
xref: NCIT:C26894 {source="MONDO:equivalentTo", source="DOID:7166"}
xref: SCTID:154664009 {source="DOID:7166"}
xref: SCTID:154668007 {source="DOID:7166"}
xref: SCTID:190301009 {source="DOID:7166"}
xref: SCTID:82119001 {source="MONDO:equivalentTo", source="DOID:7166"}
xref: UMLS:C0040147 {source="MEDGEN:21548", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="DOID:7166", source="MESH:D013966", source="MONDO:Redundant", source="NCIT:C26894/inferred"} ! thyroid gland disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002046 ! thyroid gland
property_value: IAO:0000589 "thyroiditis (disease)" xsd:string

[Term]
id: MONDO:0004127
name: lung occult adenocarcinoma
def: "A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6699]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "occult adenocarcinoma of lung" RELATED [DOID:7168, NCIT:C6699]
synonym: "occult adenocarcinoma of the lung" EXACT [DOID:7168, NCIT:C6699]
synonym: "occult lung adenocarcinoma" RELATED [NCIT:C6699]
xref: DOID:7168 {source="MONDO:equivalentTo"}
xref: MEDGEN:277443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6699 {source="MONDO:equivalentTo", source="NCIT:C6699", source="DOID:7168"}
xref: UMLS:C1335096 {source="MONDO:equivalentTo", source="MEDGEN:277443", source="MONDO:MEDGEN"}
is_a: MONDO:0005061 {source="DOID:7168", source="NCIT:C6699"} ! lung adenocarcinoma

[Term]
id: MONDO:0004128
name: lung occult large cell carcinoma
def: "A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6685]
synonym: "occult large cell carcinoma of lung" RELATED [NCIT:C6685]
synonym: "occult large cell carcinoma of the lung" EXACT [DOID:7169, NCIT:C6685]
synonym: "occult large cell lung carcinoma" RELATED [NCIT:C6685]
xref: DOID:7169 {source="MONDO:equivalentTo"}
xref: MEDGEN:235399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6685 {source="DOID:7169", source="NCIT:C6685", source="MONDO:equivalentTo"}
xref: UMLS:C1335095 {source="MEDGEN:235399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003050 {source="DOID:7169", source="NCIT:C6685"} ! lung large cell carcinoma

[Term]
id: MONDO:0004129
name: cloacogenic carcinoma
def: "An anal carcinoma arising from the transitional zone of the anal canal." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anal canal cloacogenic cancer" EXACT [NCIT:C8255]
synonym: "anal canal cloacogenic carcinoma" EXACT [NCIT:C8255]
synonym: "anal cloacogenic carcinoma" EXACT [NCIT:C8255]
synonym: "cloacogenic anal carcinoma" EXACT [DOID:7173, NCIT:C8255]
synonym: "cloacogenic carcinoma" EXACT [OMIM:105580]
synonym: "cloacogenic carcinoma (morphologic abnormality)" EXACT [DOID:7173]
synonym: "cloacogenic carcinoma of anus" EXACT [NCIT:C8255]
synonym: "cloacogenic carcinoma of the anus" EXACT [NCIT:C8255]
xref: DOID:7173 {source="MONDO:equivalentTo"}
xref: ICDO:8124/3 {source="NCIT:C8255"}
xref: MEDGEN:90755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563020 {source="MONDO:equivalentTo", source="DOID:7173"}
xref: NCIT:C8255 {source="MONDO:equivalentTo", source="DOID:7173"}
xref: OMIM:105580 {source="MONDO:includedEntryInOMIM"}
xref: SCTID:84570003 {source="DOID:7173"}
xref: UMLS:C0334273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90755"}
is_a: MONDO:0007108 {source="NCIT:C8255"} ! anal canal carcinoma
relationship: excluded_subClassOf MONDO:0006082 {source="DOID:7173", source="https://orcid.org/0000-0001-5208-3432"} ! anal squamous cell carcinoma

[Term]
id: MONDO:0004130
name: anus basaloid carcinoma
def: "An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading." [NCIT:C8256]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal basaloid carcinoma" EXACT [DOID:7174, NCIT:C8256]
synonym: "anus basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "basaloid carcinoma of anus" EXACT [NCIT:C8256]
synonym: "basaloid carcinoma of the anus" EXACT [DOID:7174, NCIT:C8256]
xref: DOID:7174 {source="MONDO:equivalentTo"}
xref: MEDGEN:79125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8256 {source="MONDO:equivalentTo", source="DOID:7174"}
xref: UMLS:C0280470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79125"}
is_a: MONDO:0003486 {source="DOID:7174", source="MONDO:Redundant", source="NCIT:C8256"} ! basaloid squamous cell carcinoma
is_a: MONDO:0006082 {source="DOID:7174", source="MONDO:Redundant", source="NCIT:C8256"} ! anal squamous cell carcinoma
intersection_of: MONDO:0003486 ! basaloid squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0004131
name: anal verrucous carcinoma
def: "A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma." [NCIT:C7470]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal Buschke-Lowenstein tumor" EXACT [NCIT:C7470]
synonym: "anal Buschke-Lowenstein tumour" EXACT OMO:0003005 []
synonym: "anal giant (malignant) condyloma" EXACT [DOID:7175, NCIT:C7470]
synonym: "anal verrucous carcinoma" EXACT [NCIT:C7470]
xref: DOID:7175 {source="MONDO:equivalentTo"}
xref: MEDGEN:231066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7470 {source="MONDO:equivalentTo", source="DOID:7175"}
xref: UMLS:C1332278 {source="MEDGEN:231066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006006 {source="NCIT:C7470"} ! verrucous carcinoma
is_a: MONDO:0006082 {source="DOID:7175", source="NCIT:C7470"} ! anal squamous cell carcinoma
is_a: MONDO:0027026 ! Buschke Lowenstein tumor
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0001353 ! anal region

[Term]
id: MONDO:0004132
name: anal canal squamous cell carcinoma
def: "A squamous cell carcinoma arising from the mucosa of the anal canal." [NCIT:C7469]
subset: gard_rare {source="GARD:21774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424019"}
subset: orphanet_rare {source="Orphanet:424019"}
subset: rare
synonym: "anal canal squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7469]
synonym: "squamous cell carcinoma of the anal canal" EXACT [MONDO:0018519]
xref: DOID:7177 {source="MONDO:equivalentTo"}
xref: GARD:21774 {source="MONDO:GARD"}
xref: ICD10CM:C21.1 {source="Orphanet:424019/ntbt", source="Orphanet:424019"}
xref: icd11.foundation:585238371 {source="Orphanet:424019", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:233979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7469 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7177"}
xref: Orphanet:424019 {source="MONDO:equivalentTo"}
xref: UMLS:C1332262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233979"}
is_a: MONDO:0005096 {source="DOID:7177", source="MONDO:Redundant", source="NCIT:C7469/inferred"} ! squamous cell carcinoma
is_a: MONDO:0006082 {source="MONDO:Redundant", source="NCIT:C7469"} ! anal squamous cell carcinoma
is_a: MONDO:0007108 {source="DOID:7177", source="MONDO:Redundant", source="NCIT:C7469", source="Orphanet:424019"} ! anal canal carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000159 ! anal canal

[Term]
id: MONDO:0004133
name: pituitary gland mixed eosinophil-basophil adenoma
def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mixed acidophil-basophil adenoma" EXACT [NCIT:C4148]
synonym: "mixed acidophil-basophil adenoma (morphologic abnormality)" EXACT [DOID:7179]
synonym: "mixed eosinophil-basophil adenoma" RELATED [DOID:7179]
synonym: "pituitary gland mixed acidophil-basophil adenoma" EXACT [NCIT:C4148]
xref: DOID:7179 {source="MONDO:equivalentTo"}
xref: ICDO:8281/0 {source="NCIT:C4148"}
xref: MEDGEN:87215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4148 {source="MONDO:equivalentTo", source="DOID:7179"}
xref: SCTID:48619006 {source="DOID:7179"}
xref: UMLS:C0334312 {source="MEDGEN:87215", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006373 {source="DOID:7179"} ! pituitary gland adenoma

[Term]
id: MONDO:0004134
name: benign dermal neurilemmoma
synonym: "benign dermal schwannoma" EXACT [NCIT:C5569]
synonym: "benign neurilemmoma of skin" EXACT [NCIT:C5569]
synonym: "benign neurilemmoma of the skin" EXACT [NCIT:C5569]
synonym: "benign schwannoma of skin" EXACT [NCIT:C5569]
synonym: "benign schwannoma of the skin" EXACT [DOID:7181, NCIT:C5569]
synonym: "benign skin neurilemmoma" EXACT [NCIT:C5569]
synonym: "benign skin schwannoma" EXACT [NCIT:C5569]
xref: DOID:7181 {source="MONDO:equivalentTo"}
xref: MEDGEN:231931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5569 {source="MONDO:equivalentTo", source="DOID:7181"}
xref: UMLS:C1332490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231931"}
is_a: MONDO:0002531 {source="DOID:7181", source="NCIT:C5569/inferred"} ! skin neoplasm

[Term]
id: MONDO:0004135
name: subacute lymphocytic thyroiditis
def: "Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function." [NCIT:P378]
synonym: "silent thyroiditis" EXACT [NCIT:C35829]
synonym: "Subacute lymphocytic thyroiditis" EXACT [DOID:7187]
synonym: "Subacute painless thyroiditis" EXACT [NCIT:C35829]
xref: DOID:7187 {source="MONDO:equivalentTo"}
xref: MEDGEN:266299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35829 {source="MONDO:equivalentTo", source="DOID:7187"}
xref: SCTID:18018005 {source="DOID:7187"}
xref: SCTID:361126006 {source="MONDO:equivalentTo", source="DOID:7187"}
xref: UMLS:C1306804 {source="MEDGEN:266299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004126 {source="DOID:7187", source="NCIT:C35829/inferred"} ! thyroiditis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004136
name: ovarian endometrioid cystadenoma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells." [NCIT:C40075]
synonym: "ovarian endometrioid cystadenoma" EXACT [NCIT:C40075]
xref: DOID:7191 {source="MONDO:equivalentTo"}
xref: MEDGEN:309509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40075 {source="DOID:7191", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518713 {source="MEDGEN:309509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005183 {source="DOID:7191", source="NCIT:C40075"} ! ovarian cystadenoma

[Term]
id: MONDO:0004137
name: obsolete MONDO:0004137
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017814

[Term]
id: MONDO:0004138
name: obsolete maxillary sinus adenoid cystic carcinoma
is_obsolete: true
replaced_by: MONDO:0006297

[Term]
id: MONDO:0004139
name: normocytic anemia
def: "Anemia in which the red blood cell volume is normal." [NCIT:C35142]
subset: otar {source="MONDO:OTAR"}
synonym: "anaemia normocytic" EXACT OMO:0003005 []
synonym: "anemia normocytic" EXACT [DOID:720, MTH:NOCODE]
synonym: "normocytic Anaemia" EXACT OMO:0003005 []
synonym: "normocytic Anemia" EXACT [NCIT:C35142]
xref: DOID:720 {source="MONDO:equivalentTo"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35142 {source="DOID:720", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:300980002 {source="DOID:720", source="MONDO:equivalentTo"}
xref: UMLS:C0085577 {source="MEDGEN:39310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002280 {source="DOID:720", source="NCIT:C35142"} ! anemia

[Term]
id: MONDO:0004140
name: intermediate malignant teratoma
def: "An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Intermediate immature teratoma" EXACT [DOID:7202, NCIT:C4288]
synonym: "malignant teratoma, intermediate" EXACT [DOID:7202]
synonym: "malignant teratoma, intermediate (morphologic abnormality)" EXACT [DOID:7202]
xref: DOID:7202 {source="MONDO:equivalentTo"}
xref: ICDO:9083/3 {source="NCIT:C4288"}
xref: MEDGEN:83161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4288 {source="DOID:7202", source="MONDO:equivalentTo"}
xref: SCTID:21912003 {source="DOID:7202"}
xref: UMLS:C0334522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83161"}
is_a: MONDO:0003514 {source="DOID:7202"} ! malignant teratoma

[Term]
id: MONDO:0004141
name: melanomatosis
synonym: "melanomatosis" EXACT [NCIT:C9499]
xref: DOID:7206 {source="MONDO:equivalentTo"}
xref: MEDGEN:235317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9499 {source="DOID:7206", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235317"}
is_a: MONDO:0005105 {source="DOID:7206", source="NCIT:C9499"} ! melanoma

[Term]
id: MONDO:0004142
name: lung combined large cell neuroendocrine carcinoma
def: "A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "combined large cell lung neuroendocrine carcinoma" EXACT [NCIT:C7267]
synonym: "combined large cell neuroendocrine carcinoma of lung" EXACT [DOID:7207, NCIT:C7267]
synonym: "combined large cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C7267]
synonym: "pulmonary combined large cell neuroendocrine carcinoma" EXACT [DOID:7207, NCIT:C7267]
xref: DOID:7207 {source="MONDO:equivalentTo"}
xref: MEDGEN:232386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7267 {source="DOID:7207", source="MONDO:equivalentTo"}
xref: UMLS:C1333122 {source="MEDGEN:232386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003960 {source="DOID:7207", source="NCIT:C7267"} ! pulmonary large cell neuroendocrine carcinoma
is_a: MONDO:0006167 {source="NCIT:C7267"} ! combined lung carcinoma

[Term]
id: MONDO:0004143
name: psammomatous meningioma
def: "A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." [NCIT:C4331]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "psammomatous meningioma (morphologic abnormality)" EXACT [DOID:7210]
xref: DOID:7210 {source="MONDO:equivalentTo"}
xref: ICDO:9533/0 {source="NCIT:C4331"}
xref: MEDGEN:90815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:7210"}
xref: NCIT:C4331 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7210"}
xref: SCTID:38431002 {source="DOID:7210"}
xref: UMLS:C0334607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90815"}
is_a: MONDO:0016642 {source="DOID:7210", source="EFO:1000500", source="NCIT:C4331/inferred"} ! meningioma

[Term]
id: MONDO:0004144
name: fibrous meningioma
def: "A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix." [NCIT:C4330]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fibroblastic meningioma" EXACT [DOID:7211, NCIT:C4330]
synonym: "fibrous meningioma (morphologic abnormality)" EXACT [DOID:7211]
xref: DOID:7211 {source="MONDO:equivalentTo"}
xref: ICDO:9532/0 {source="NCIT:C4330"}
xref: MEDGEN:137789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:7211"}
xref: NCIT:C4330 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7211"}
xref: SCTID:511008 {source="DOID:7211"}
xref: UMLS:C0334606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137789"}
is_a: MONDO:0016642 {source="DOID:7211", source="EFO:1000258", source="NCIT:C4330/inferred"} ! meningioma

[Term]
id: MONDO:0004145
name: meningothelial meningioma
def: "A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." [NCIT:C4329]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningothelial meningioma (morphologic abnormality)" EXACT [DOID:7212]
synonym: "Meningotheliomatous meningioma" EXACT [DOID:7212, NCIT:C4329]
xref: DOID:7212 {source="MONDO:equivalentTo"}
xref: ICDO:9531/0 {source="NCIT:C4329"}
xref: MEDGEN:90814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:7212"}
xref: NCIT:C4329 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7212"}
xref: SCTID:68944005 {source="DOID:7212"}
xref: UMLS:C0334605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90814"}
is_a: MONDO:0016642 {source="DOID:7212", source="EFO:1000372", source="NCIT:C4329/inferred"} ! meningioma

[Term]
id: MONDO:0004146
name: transitional meningioma
def: "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." [NCIT:C4333]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mixed meningioma" EXACT [NCIT:C4333]
synonym: "transitional (mixed) meningioma" EXACT [DOID:7213, NCIT:C4333]
synonym: "transitional meningioma (morphologic abnormality)" EXACT [DOID:7213]
xref: DOID:7213 {source="MONDO:equivalentTo"}
xref: ICDO:9537/0 {source="NCIT:C4333"}
xref: MEDGEN:83174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:7213"}
xref: NCIT:C4333 {source="DOID:7213", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:64967004 {source="DOID:7213"}
xref: UMLS:C0334611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83174"}
is_a: MONDO:0016642 {source="DOID:7213", source="EFO:1000602", source="NCIT:C4333/inferred"} ! meningioma

[Term]
id: MONDO:0004147
name: noninvasive malignant thymoma
def: "A morphologically malignant thymoma that is entirely confined within the capsule." [NCIT:C9080]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant thymoma, noninvasive" EXACT [NCIT:C9080]
synonym: "thymoma malignant noninvasive" EXACT [DOID:7214, NCIT:C9080]
xref: DOID:7214 {source="MONDO:equivalentTo"}
xref: MEDGEN:78893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9080 {source="DOID:7214", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0278847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78893"}
is_a: MONDO:0006456 {source="DOID:7214", source="NCIT:C9080/inferred"} ! thymoma

[Term]
id: MONDO:0004148
name: gallbladder papillary neoplasm with an associated invasive carcinoma
def: "An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma." [NCIT:C5743]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gall bladder papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder papillary carcinoma" RELATED [DOID:7221]
synonym: "gallbladder papillary neoplasm with an associated invasive cancer" EXACT [NCIT:C5743]
synonym: "gallbladder papillary neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5743]
synonym: "intracystic papillary neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5743]
synonym: "papillary carcinoma of gallbladder" EXACT [NCIT:C5743]
synonym: "papillary carcinoma of the gallbladder" EXACT [DOID:7221, NCIT:C5743]
xref: DOID:7221 {source="MONDO:equivalentTo"}
xref: ICDO:8503/3 {source="NCIT:C5743"}
xref: MEDGEN:232226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5743 {source="MONDO:equivalentTo", source="DOID:7221"}
xref: UMLS:C1333753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232226"}
is_a: MONDO:0002518 {source="MONDO:Redundant", source="NCIT:C5743"} ! gallbladder papillary neoplasm
is_a: MONDO:0003220 {source="DOID:7221/inferred", source="NCIT:C5743"} ! gallbladder carcinoma
is_a: MONDO:0006215 {source="DOID:7221", source="MONDO:Entailed"} ! gallbladder adenocarcinoma
intersection_of: MONDO:0006509 ! papillary carcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0004149
name: gallbladder pleomorphic giant cell adenocarcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pleomorphic giant cell adenocarcinoma of the gallbladder" EXACT [DOID:7222, NCIT:C5838]
xref: DOID:7222 {source="MONDO:equivalentTo"}
is_a: MONDO:0006215 {source="DOID:7222"} ! gallbladder adenocarcinoma

[Term]
id: MONDO:0004150
name: breast giant fibroadenoma
def: "A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity." [NCIT:C4273]
subset: gard_rare {source="GARD:20206", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:180267"}
subset: orphanet_rare {source="Orphanet:180267"}
subset: rare
synonym: "breast giant fibroadenoma" EXACT [NCIT:C4273]
synonym: "giant adenofibroma of the breast" EXACT [Orphanet:180267]
synonym: "giant breast fibroadenoma" EXACT [NCIT:C4273]
synonym: "giant fibroadenoma" EXACT [DOID:7223, NCIT:C4273]
synonym: "giant fibroadenoma of breast" EXACT [NCIT:C4273]
synonym: "giant fibroadenoma of the breast" EXACT [NCIT:C4273]
xref: DOID:7223 {source="MONDO:equivalentTo"}
xref: GARD:20206 {source="MONDO:GARD"}
xref: ICD10CM:D24 {source="Orphanet:180267/ntbt", source="Orphanet:180267"}
xref: ICDO:9016/0 {source="NCIT:C4273"}
xref: MEDGEN:138039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4273 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7223"}
xref: Orphanet:180267 {source="MONDO:equivalentTo"}
xref: SCTID:254846003 {source="MONDO:equivalentTo", source="DOID:7223"}
xref: UMLS:C0346157 {source="MEDGEN:138039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000620 {source="Orphanet:180267"} ! breast benign neoplasm
is_a: MONDO:0002056 {source="DOID:7223", source="NCIT:C4273"} ! breast fibroadenoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015869"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7047" xsd:anyURI

[Term]
id: MONDO:0004151
name: spinal meninges cancer
def: "A malignant neoplasm involving the meninx of spinal cord." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of meninx of spinal cord" EXACT [MONDO:patterns/cancer]
synonym: "malignant meninx of spinal cord neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of meninx of spinal cord" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of spinal meninges" EXACT [DOID:7224]
synonym: "meninx of spinal cord cancer" EXACT [MONDO:patterns/location]
xref: DOID:7224 {source="MONDO:equivalentTo"}
xref: ICD10CM:C70.1 {source="DOID:7224"}
xref: ICD9:192.3 {source="DOID:7224", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188320007 {source="DOID:7224"}
xref: SCTID:363476006 {source="DOID:7224", source="MONDO:equivalentTo"}
xref: SCTID:94069006 {source="DOID:7224"}
xref: UMLS:C0153647 {source="MONDO:equivalentTo", source="MEDGEN:509351", source="MONDO:MEDGEN"}
is_a: MONDO:0003544 {source="DOID:7224", source="MONDO:Redundant"} ! spinal cord cancer
is_a: MONDO:0021322 {source="MONDO:Redundant"} ! malignant tumor of meninges
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003292 ! meninx of spinal cord

[Term]
id: MONDO:0004152
name: chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation
def: "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years." [NCIT:C37201]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation" EXACT [NCIT:C37201]
synonym: "CLL/SLL with IGVH SHM" EXACT [DOID:7230, NCIT:C37201]
synonym: "postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [NCIT:C37201]
synonym: "postgerminal centre chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT OMO:0003005 []
xref: DOID:7230 {source="MONDO:equivalentTo"}
xref: MEDGEN:232076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37201 {source="MONDO:equivalentTo", source="DOID:7230"}
xref: UMLS:C1333037 {source="MEDGEN:232076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003864 {source="DOID:7230", source="NCIT:C37201"} ! chronic lymphocytic leukemia/small lymphocytic lymphoma

[Term]
id: MONDO:0004153
name: childhood central nervous system embryonal carcinoma
def: "An embryonal carcinoma that arises from the central nervous system and occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood central nervous system embryonal carcinoma" EXACT [NCIT:C6208]
synonym: "childhood CNS embryonal cell carcinoma" EXACT [NCIT:C6208]
synonym: "childhood embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern]
synonym: "embryonal carcinoma of childhood central nervous system" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of childhood CNS" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of paediatric central nervous system" EXACT OMO:0003005 []
synonym: "embryonal carcinoma of paediatric CNS" EXACT OMO:0003005 []
synonym: "embryonal carcinoma of pediatric central nervous system" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of pediatric CNS" EXACT [DOID:7231, NCIT:C6208]
synonym: "embryonal carcinoma of the central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "embryonal carcinoma of the childhood central nervous system" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of the childhood CNS" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of the paediatric central nervous system" EXACT OMO:0003005 []
synonym: "embryonal carcinoma of the paediatric CNS" EXACT OMO:0003005 []
synonym: "embryonal carcinoma of the pediatric central nervous system" EXACT [NCIT:C6208]
synonym: "embryonal carcinoma of the pediatric CNS" EXACT [NCIT:C6208]
synonym: "paediatric central nervous system embryonal carcinoma" EXACT OMO:0003005 []
synonym: "paediatric CNS embryonal cell carcinoma" RELATED OMO:0003005 []
synonym: "paediatric embryonal carcinoma of the central nervous system" EXACT OMO:0003005 []
synonym: "pediatric central nervous system embryonal carcinoma" EXACT [NCIT:C6208]
synonym: "pediatric CNS embryonal cell carcinoma" RELATED [DOID:7231]
synonym: "pediatric embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:7231 {source="MONDO:equivalentTo"}
xref: MEDGEN:277988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6208 {source="MONDO:equivalentTo", source="DOID:7231"}
xref: UMLS:C1377605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277988"}
is_a: MONDO:0003750 {source="DOID:7231", source="MONDO:Redundant", source="NCIT:C6208"} ! childhood central nervous system germ cell tumor
is_a: MONDO:0004479 {source="MONDO:Redundant", source="NCIT:C6208/inferred"} ! malignant childhood germ cell neoplasm
is_a: MONDO:0018843 {source="MONDO:Redundant", source="NCIT:C6208"} ! embryonal carcinoma of the central nervous system
intersection_of: MONDO:0018843 ! embryonal carcinoma of the central nervous system
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004154
name: obsolete central nervous system embryonal carcinoma
is_obsolete: true
replaced_by: MONDO:0018843

[Term]
id: MONDO:0004155
name: adult central nervous system embryonal carcinoma
def: "A embryonal carcinoma of the central nervous system that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult central nervous system embryonal carcinoma" EXACT [NCIT:C5790]
synonym: "adult CNS embryonal carcinoma" EXACT [NCIT:C5790]
synonym: "adult embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern]
synonym: "Central nervous system embryonal carcinoma" EXACT [NCIT:C5790]
synonym: "embryonal carcinoma of adult central nervous system" EXACT [NCIT:C5790]
synonym: "embryonal carcinoma of adult CNS" EXACT [NCIT:C5790]
synonym: "embryonal carcinoma of the adult central nervous system" EXACT [DOID:7233, NCIT:C5790]
synonym: "embryonal carcinoma of the adult CNS" EXACT [NCIT:C5790]
synonym: "embryonal carcinoma of the central nervous system of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7233 {source="MONDO:equivalentTo"}
xref: MEDGEN:234580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5790 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7233"}
xref: UMLS:C1370503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234580"}
is_a: MONDO:0003405 {source="DOID:7233", source="MONDO:Redundant", source="NCIT:C5790"} ! adult central nervous system germ cell tumor
is_a: MONDO:0018843 {source="MONDO:Redundant", source="NCIT:C5790"} ! embryonal carcinoma of the central nervous system
intersection_of: MONDO:0018843 ! embryonal carcinoma of the central nervous system
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004156
name: pancreatic mucinous cystadenocarcinoma
def: "A mucinous cystadenocarcinoma that involves the pancreas." [MONDO:patterns/location]
synonym: "colloid Cystadencarcinoma of pancreas" EXACT [NCIT:C5713]
synonym: "colloid Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713]
synonym: "colloidal Cystadencarcinoma of pancreas" EXACT [NCIT:C5713]
synonym: "colloidal Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713]
synonym: "mucinous Cystadencarcinoma of pancreas" EXACT [DOID:7234, NCIT:C5713]
synonym: "mucinous Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713]
synonym: "pancreatic colloid Cystadencarcinoma" EXACT [NCIT:C5713]
synonym: "pancreatic colloid cystadenocarcinoma" RELATED [DOID:7234]
synonym: "pancreatic colloidal Cystadencarcinoma" EXACT [NCIT:C5713]
synonym: "pancreatic mucinous cystadenocarcinoma" EXACT [NCIT:C5713]
xref: DOID:7234 {source="MONDO:equivalentTo"}
xref: MEDGEN:1433902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5713 {source="MONDO:equivalentTo", source="DOID:7234"}
xref: UMLS:C2063873 {source="MEDGEN:1433902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002867 {source="DOID:7234", source="MONDO:Redundant"} ! pancreatic cystadenocarcinoma
intersection_of: MONDO:0005858 ! mucinous cystadenocarcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0004157
name: obsolete pancreatic mucinous cystadenoma
is_obsolete: true
replaced_by: MONDO:0018523

[Term]
id: MONDO:0004158
name: pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma
def: "A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component." [NCIT:C41246]
synonym: "pancreatic invasive mucinous cystadenocarcinoma" EXACT [NCIT:C41246]
synonym: "pancreatic mucinous cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C41246]
synonym: "pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C41246]
xref: DOID:7236 {source="MONDO:equivalentTo"}
xref: ICDO:8470/3 {source="NCIT:C41246"}
xref: MEDGEN:309550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41246 {source="DOID:7236", source="MONDO:equivalentTo"}
xref: UMLS:C1518870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309550"}
is_a: MONDO:0004156 {source="DOID:7236"} ! pancreatic mucinous cystadenocarcinoma
is_a: MONDO:0005858 {source="NCIT:C41246"} ! mucinous cystadenocarcinoma

[Term]
id: MONDO:0004159
name: pancreatic non-invasive mucinous cystadenocarcinoma
def: "A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis." [NCIT:P378]
xref: DOID:7237 {source="MONDO:equivalentTo"}
xref: ICDO:8470/2 {source="NCIT:C41245"}
xref: MEDGEN:690092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41245 {source="DOID:7237", source="MONDO:equivalentTo"}
xref: UMLS:C1266078 {source="MEDGEN:690092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004156 {source="DOID:7237"} ! pancreatic mucinous cystadenocarcinoma

[Term]
id: MONDO:0004160
name: female stress incontinence
def: "The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause." [NCIT:P378]
synonym: "female urinary stress incontinence" EXACT [DOID:724]
synonym: "stress incontinence - female" EXACT [DOID:724]
xref: DOID:724 {source="MONDO:equivalentTo"}
xref: ICD9:625.6 {source="DOID:724"}
xref: MEDGEN:21346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35042 {source="DOID:724", source="MONDO:equivalentTo"}
xref: SCTID:156028007 {source="DOID:724"}
xref: SCTID:198408003 {source="DOID:724"}
xref: SCTID:266668007 {source="DOID:724"}
xref: SCTID:60241006 {source="DOID:724"}
xref: UMLS:C0038437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21346"}
is_a: MONDO:0006026 {source="DOID:724", source="NCIT:C35042/inferred"} ! urinary bladder disorder

[Term]
id: MONDO:0004161
name: uterine corpus apoplectic leiomyoma
def: "A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives." [NCIT:C40165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "uterine corpus hemorrhagic cellular leiomyoma" EXACT [NCIT:C40165]
synonym: "uterine corpus leiomyoma with apoplectic change" EXACT [NCIT:C40165]
xref: DOID:7241 {source="MONDO:equivalentTo"}
xref: MEDGEN:274364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40165 {source="MONDO:equivalentTo", source="DOID:7241", source="MONDO:exact-label-match"}
xref: UMLS:C1519852 {source="MEDGEN:274364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007886 {source="NCIT:C40165"} ! uterine corpus leiomyoma
relationship: excluded_subClassOf MONDO:0004162 {source="DOID:7241", source="https://orcid.org/0000-0001-5208-3432"} ! uterine corpus cellular leiomyoma

[Term]
id: MONDO:0004162
name: uterine corpus cellular leiomyoma
def: "A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." [NCIT:C40163]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body of uterus cellular leiomyoma" EXACT [MONDO:patterns/location]
synonym: "cellular leiomyoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "uterine corpus cellular leiomyoma" EXACT [NCIT:C40163]
xref: DOID:7242 {source="MONDO:equivalentTo"}
xref: MEDGEN:276938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40163 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7242"}
xref: UMLS:C1519845 {source="MEDGEN:276938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000632 {source="DOID:7242", source="MONDO:Redundant", source="NCIT:C40163/inferred"} ! uterine benign neoplasm
is_a: MONDO:0002654 {source="DOID:7242/inferred", source="MONDO:Redundant", source="NCIT:C40163/inferred"} ! uterine disorder
is_a: MONDO:0003296 {source="DOID:7242", source="MONDO:Redundant", source="NCIT:C40163"} ! cellular leiomyoma
is_a: MONDO:0007886 {source="MONDO:Redundant", source="NCIT:C40163"} ! uterine corpus leiomyoma
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C40163/inferred"} ! benign neoplasm of corpus uteri
intersection_of: MONDO:0003296 ! cellular leiomyoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0004163
name: bladder urachal urothelial carcinoma
def: "A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium." [NCIT:C39844]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bladder urachal urothelial carcinoma" EXACT [NCIT:C39844]
xref: DOID:7244 {source="MONDO:equivalentTo"}
xref: MEDGEN:267744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39844 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7244"}
xref: UMLS:C1511207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267744"}
is_a: MONDO:0003715 {source="DOID:7244", source="MONDO:Redundant", source="NCIT:C39844"} ! bladder urachal carcinoma
is_a: MONDO:0005611 {source="MONDO:Redundant", source="NCIT:C39844"} ! bladder transitional cell carcinoma
intersection_of: MONDO:0005611 ! bladder transitional cell carcinoma
intersection_of: disease_arises_from_structure UBERON:0011202 ! urachus epithelium

[Term]
id: MONDO:0004164
name: lymphoepithelioma-like acinar prostate adenocarcinoma
def: "A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates." [NCIT:P378]
synonym: "acinar prostate adenocarcinoma, lymphoepithelioma-like variant" EXACT [NCIT:C39885]
synonym: "lymphoepithelioma-like variant acinar prostate adenocarcinoma" EXACT [DOID:7246]
xref: DOID:7246 {source="MONDO:equivalentTo"}
xref: MEDGEN:1834954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39885 {source="DOID:7246", source="MONDO:equivalentTo"}
xref: UMLS:C5787176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1834954"}
is_a: MONDO:0002493 {source="NCIT:C39885"} ! prostatic acinar adenocarcinoma
is_a: MONDO:0005082 {source="DOID:7246", source="MONDO:0004164/inferred", source="MONDO:Redundant", source="NCIT:C39885/inferred"} ! prostate adenocarcinoma

[Term]
id: MONDO:0004165
name: selective IgD deficiency disease
def: "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "selective IgD immunodeficiency" EXACT [DOID:7263, NCIT:C27144]
synonym: "selective immunoglobulin D deficiency" EXACT [DOID:7263]
xref: DOID:7263 {source="MONDO:equivalentTo"}
xref: ICD9:279.03 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27144 {source="MONDO:equivalentTo", source="DOID:7263"}
xref: SCTID:234541006 {source="MONDO:equivalentTo", source="DOID:7263"}
xref: UMLS:C0398695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96021"}
is_a: MONDO:0003739 {source="DOID:7263", source="NCIT:C27144"} ! selective immunoglobulin deficiency disease

[Term]
id: MONDO:0004166
name: hereditary fallopian tube carcinoma
def: "Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma." [NCIT:C40455]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "familial fallopian tube carcinoma" EXACT [NCIT:C40455]
synonym: "familiar fallopian tube carcinoma" RELATED [DOID:7266]
synonym: "hereditary fallopian tube cancer" EXACT [NCIT:C40455]
synonym: "hereditary fallopian tube carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C40455]
xref: DOID:7266 {source="MONDO:equivalentTo"}
xref: MEDGEN:307556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40455 {source="MONDO:equivalentTo", source="DOID:7266"}
xref: UMLS:C1512418 {source="MEDGEN:307556", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006206 {source="DOID:7266", source="MONDO:Redundant", source="NCIT:C40455"} ! fallopian tube carcinoma
intersection_of: MONDO:0006206 ! fallopian tube carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0004167
name: obsolete lung clear cell carcinoma
xref: DOID:7267 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:254630009 {source="MONDO:obsoleteEquivalent", source="DOID:7267"}
is_obsolete: true
replaced_by: MONDO:0024386

[Term]
id: MONDO:0004168
name: cribriform variant testicular seminoma
def: "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "testicular seminoma, cribriform variant" EXACT [NCIT:C40957]
xref: DOID:7269 {source="MONDO:equivalentTo"}
xref: MEDGEN:308258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40957 {source="DOID:7269", source="MONDO:equivalentTo"}
xref: UMLS:C1515292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308258"}
is_a: MONDO:0003669 {source="DOID:7269", source="MONDO:Redundant", source="NCIT:C40957"} ! testicular seminoma
intersection_of: MONDO:0003669 ! testicular seminoma
intersection_of: disease_has_feature NCIT:C35920 ! Cribriform Pattern

[Term]
id: MONDO:0004169
name: premenstrual tension
def: "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." [MESH:D011293]
subset: otar {source="MONDO:OTAR"}
xref: DOID:727 {source="MONDO:equivalentTo"}
xref: ICD10CM:N94.3 {source="DOID:727"}
xref: ICD9:625.4 {source="MONDO:relatedTo", source="DOID:727"}
xref: MEDGEN:87683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011293 {source="DOID:727", source="MONDO:equivalentTo"}
xref: SCTID:123076003 {source="DOID:727"}
xref: SCTID:156026006 {source="DOID:727"}
xref: SCTID:198407008 {source="DOID:727"}
xref: SCTID:82639001 {source="MONDO:relatedTo", source="DOID:727"}
xref: UMLS:C0376356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87683"}
is_a: MONDO:0002263 {source="DOID:727"} ! female reproductive system disorder

[Term]
id: MONDO:0004170
name: nodular episcleritis
xref: DOID:728 {source="MONDO:equivalentTo"}
xref: ICD10CM:H15.12 {source="DOID:728"}
xref: ICD9:379.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:728"}
xref: MEDGEN:509927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:70558001 {source="MONDO:equivalentTo", source="DOID:728"}
xref: UMLS:C0155352 {source="MEDGEN:509927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001269 {source="DOID:728"} ! scleral disorder

[Term]
id: MONDO:0004171
name: obsolete congenital epulis
is_obsolete: true
replaced_by: MONDO:0015528

[Term]
id: MONDO:0004172
name: uterine corpus adenocarcinofibroma
def: "A adenocarcinofibroma that involves the body of uterus." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenocarcinofibroma of body of uterus" EXACT []
synonym: "body of uterus adenocarcinofibroma" EXACT [MONDO:patterns/location]
xref: DOID:7281 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0002991 ! adenocarcinofibroma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0004173
name: adenocarcinoma of skene gland origin
def: "A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma." [NCIT:C39863]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenocarcinoma of Skene gland" EXACT [NCIT:C39863]
synonym: "adenocarcinoma of Skene gland origin" EXACT [NCIT:C39863]
synonym: "carcinoma of paraurethral gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of Skene gland" EXACT [NCIT:C39863]
synonym: "carcinoma of Skene's gland" EXACT [NCIT:C39863]
synonym: "carcinoma of the paraurethral gland" EXACT [DOID:7284, NCIT:C7371]
synonym: "paraurethral gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "paraurethral gland carcinoma" EXACT [DOID:7284, MONDO:patterns/location]
synonym: "Skene gland carcinoma" RELATED [DOID:7284]
xref: DOID:7284 {source="MONDO:equivalentTo"}
xref: MEDGEN:282906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39863 {source="MONDO:equivalentTo", source="DOID:7284"}
xref: NCIT:C7371 {source="DOID:7284"}
xref: UMLS:C1527427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:282906"}
is_a: MONDO:0001869 {source="DOID:7284", source="MONDO:Entailed", source="MONDO:Redundant"} ! paraurethral gland cancer
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0010145 ! paraurethral gland

[Term]
id: MONDO:0004174
name: secretory uterine corpus endometrioid adenocarcinoma
def: "An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium." [NCIT:P378]
synonym: "endometrial endometrioid adenocarcinoma, secretory variant" EXACT [NCIT:C27839]
synonym: "secretory uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C27839]
xref: DOID:7289 {source="MONDO:equivalentTo"}
xref: ICDO:8382/3 {source="NCIT:C27839"}
xref: MEDGEN:690079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27839 {source="MONDO:equivalentTo", source="DOID:7289"}
xref: UMLS:C1266057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:690079"}
is_a: MONDO:0005461 {source="DOID:7289", source="NCIT:C27839/inferred"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="NCIT:C27839"} ! endometrial endometrioid adenocarcinoma

[Term]
id: MONDO:0004175
name: mucin-rich endometrial endometrioid adenocarcinoma
xref: DOID:7293 {source="MONDO:equivalentTo"}
xref: MEDGEN:269340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8717 {source="MONDO:equivalentTo", source="DOID:7293"}
xref: UMLS:C1513711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:269340"}
is_a: MONDO:0005461 {source="DOID:7293"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="https://orcid.org/0000-0002-6601-2165"} ! endometrial endometrioid adenocarcinoma

[Term]
id: MONDO:0004176
name: childhood extraosseous osteosarcoma
def: "An osteosarcoma arising from the soft tissue, and occurring during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood extraosseous osteosarcoma" EXACT [NCIT:C27376]
synonym: "childhood extraskeletal osteosarcoma" EXACT [NCIT:C27376]
synonym: "extraosseous osteosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric extraosseous osteosarcoma" EXACT OMO:0003005 []
synonym: "paediatric extraskeletal osteosarcoma" EXACT OMO:0003005 []
synonym: "pediatric extraosseous osteosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27376]
synonym: "pediatric extraskeletal osteosarcoma" EXACT [DOID:7297, NCIT:C27376]
xref: DOID:7297 {source="MONDO:equivalentTo"}
xref: MEDGEN:232060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27376 {source="MONDO:equivalentTo", source="DOID:7297"}
xref: UMLS:C1332968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232060"}
is_a: MONDO:0002621 {source="DOID:7297", source="MONDO:Redundant", source="NCIT:C27376"} ! extraosseous osteosarcoma
is_a: MONDO:0002623 {source="MONDO:Redundant", source="NCIT:C27376"} ! pediatric osteosarcoma
intersection_of: MONDO:0002621 ! extraosseous osteosarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004177
name: benign urethral neoplasm
def: "Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics." [NCIT:C3619]
synonym: "benign neoplasm of the urethra" EXACT [NCIT:C3619]
synonym: "benign neoplasm of urethra" EXACT [NCIT:C3619]
synonym: "benign tumor of the urethra" EXACT [NCIT:C3619]
synonym: "benign tumor of urethra" EXACT [NCIT:C3619]
synonym: "benign tumour of the urethra" EXACT OMO:0003005 []
synonym: "benign tumour of urethra" EXACT OMO:0003005 []
synonym: "benign urethra neoplasm" EXACT [NCIT:C3619]
synonym: "benign urethra tumor" EXACT [NCIT:C3619]
synonym: "benign urethra tumour" EXACT OMO:0003005 []
synonym: "benign urethral neoplasm" EXACT [NCIT:C3619]
synonym: "benign urethral neoplasm NOS" RELATED EXCLUDE [NCIT:C3619]
synonym: "benign urethral tumor" EXACT [NCIT:C3619]
synonym: "benign urethral tumour" EXACT OMO:0003005 []
synonym: "neoplasm of urethra" RELATED EXCLUDE [DOID:730]
synonym: "neoplasm. urethra" EXACT [DOID:730, NCIT:C3428]
synonym: "urethra benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "urethral benign neoplasm" RELATED [DOID:730]
xref: DOID:730 {source="MONDO:equivalentTo"}
xref: ICD9:223.81 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014523 {source="DOID:730"}
xref: NCIT:C3428 {source="DOID:730"}
xref: NCIT:C3619 {source="MONDO:equivalentTo"}
xref: SCTID:126883004 {source="DOID:730"}
xref: SCTID:92466006 {source="MONDO:equivalentTo"}
xref: UMLS:C0154019 {source="MEDGEN:57812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004180 {source="DOID:730", source="MONDO:Redundant", source="NCIT:C3619"} ! benign urinary system neoplasm
is_a: MONDO:0004184 {source="DOID:730", source="MONDO:Redundant", source="NCIT:C3619/inferred"} ! urethral disorder
is_a: MONDO:0021239 {source="MONDO:Redundant", source="NCIT:C3619"} ! urethra neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0004178
name: testicular yolk sac tumor, endodermal sinus pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli." [NCIT:C39927]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "endodermal sinus pattern testicular yolk sac tumor" RELATED [DOID:7302]
synonym: "endodermal sinus pattern testicular yolk sac tumour" RELATED OMO:0003005 []
synonym: "testicular yolk sac tumor, endodermal sinus pattern" EXACT [NCIT:C39927]
xref: DOID:7302 {source="MONDO:equivalentTo"}
xref: MEDGEN:273636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39927 {source="DOID:7302", source="MONDO:equivalentTo", source="NCIT:C39927"}
xref: UMLS:C1515303 {source="MEDGEN:273636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003402 {source="DOID:7302", source="NCIT:C39927"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004179
name: obsolete astroblastoma
is_obsolete: true
replaced_by: MONDO:0016707

[Term]
id: MONDO:0004180
name: benign urinary system neoplasm
def: "A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma." [NCIT:C4893]
synonym: "benign neoplasm of the urinary tract" EXACT [NCIT:C4893]
synonym: "benign neoplasm of urinary tract" EXACT [NCIT:C4893]
synonym: "benign tumor of the urinary tract" EXACT [NCIT:C4893]
synonym: "benign tumor of urinary tract" EXACT [NCIT:C4893]
synonym: "benign tumour of the urinary tract" EXACT OMO:0003005 []
synonym: "benign tumour of urinary tract" EXACT OMO:0003005 []
synonym: "benign urinary system neoplasm" EXACT [NCIT:C4893]
synonym: "benign urinary tract neoplasm" EXACT [NCIT:C4893]
synonym: "benign urinary tract tumor" EXACT [NCIT:C4893]
synonym: "benign urinary tract tumour" EXACT OMO:0003005 []
synonym: "neoplasm of urinary system" BROAD [DOID:731]
synonym: "renal system benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tumor of the urinary system" BROAD [DOID:731, NCIT:C3431]
synonym: "tumor of urinary tract" BROAD [DOID:731]
synonym: "tumour of the urinary system" BROAD OMO:0003005 []
synonym: "tumour of urinary tract" BROAD OMO:0003005 []
synonym: "urinary system benign neoplasm" RELATED [DOID:731]
synonym: "urinary tract neoplasm" BROAD [DOID:731]
xref: DOID:731 {source="MONDO:equivalentTo"}
xref: ICD9:223.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:223.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:146348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014571 {source="DOID:731", source="MONDO:equivalentTo"}
xref: NCIT:C3431 {source="DOID:731"}
xref: NCIT:C4893 {source="MONDO:equivalentTo"}
xref: SCTID:126879004 {source="DOID:731"}
xref: SCTID:254913005 {source="DOID:731"}
xref: SCTID:92468007 {source="MONDO:equivalentTo"}
xref: UMLS:C0686167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146348"}
is_a: MONDO:0005165 {source="DOID:731", source="DOID:731/inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C4893"} ! urinary system neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001008 ! renal system

[Term]
id: MONDO:0004181
name: breast adenomyoepithelial adenosis
def: "An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present." [NCIT:P378]
xref: DOID:7312 {source="MONDO:equivalentTo"}
xref: MEDGEN:267759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40391 {source="DOID:7312", source="MONDO:equivalentTo"}
xref: UMLS:C1511283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267759"}
is_a: MONDO:0003725 {source="DOID:7312", source="NCIT:C40391"} ! breast adenosis

[Term]
id: MONDO:0004182
name: stage IVb bladder cancer
def: "Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis." [NCIT:C9368]
comment: Editor note: consider obsoleting or moving to stage
synonym: "Jewett-Marshall bladder cancer" RELATED [DOID:7315]
synonym: "Jewett-Marshall stage D1 bladder cancer" RELATED [DOID:7315]
synonym: "Jewett-Marshall stage D2 bladder cancer" EXACT [DOID:7315, NCIT:C9368]
synonym: "Jewett-Marshall stage D2 urinary bladder cancer" EXACT [NCIT:C9368]
synonym: "Jewett-Marshall stage D2 urinary bladder carcinoma" EXACT [NCIT:C9368]
synonym: "stage IVB bladder cancer" EXACT [NCIT:C9368]
synonym: "stage IVB urinary bladder cancer" EXACT [NCIT:C9368]
synonym: "stage IVB urinary bladder carcinoma" EXACT [DOID:7315, NCIT:C9368]
xref: DOID:7315 {source="MONDO:equivalentTo"}
xref: MEDGEN:277737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9368 {source="DOID:7315", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: UMLS:C1336362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277737"}
is_a: MONDO:0004986 {source="DOID:7315"} ! urinary bladder carcinoma

[Term]
id: MONDO:0004183
name: axonal neuropathy
def: "Any nerve disorder affecting the axon of a nerve." [NCIT:C27301]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "axon peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "axonal neuropathy" EXACT [NCIT:C27301]
synonym: "peripheral neuropathy of axon" EXACT [MONDO:design_pattern]
xref: DOID:7319 {source="MONDO:equivalentTo"}
xref: MEDGEN:266071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27301 {source="DOID:7319", source="MONDO:equivalentTo"}
xref: SCTID:60703000 {source="DOID:7319", source="MONDO:equivalentTo"}
xref: UMLS:C1263857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266071"}
is_a: MONDO:0005244 {source="DOID:7319", source="MONDO:Redundant", source="NCIT:C27301"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_has_location GO:0030424 ! axon

[Term]
id: MONDO:0004184
name: urethral disorder
def: "A disease involving the urethra." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of urethra" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of urethra" EXACT []
synonym: "disorder of urethra" EXACT [MONDO:patterns/location_top]
synonym: "urethra disease" EXACT [DOID:732, MONDO:patterns/location, NCIT:C26903]
synonym: "urethra disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urethra disorder" EXACT [NCIT:C26903]
xref: DOID:732 {source="MONDO:equivalentTo"}
xref: EFO:0009689 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N36.9 {source="DOID:732"}
xref: MEDGEN:22569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014522 {source="DOID:732", source="MONDO:equivalentTo"}
xref: NCIT:C26903 {source="DOID:732", source="MONDO:equivalentTo"}
xref: SCTID:197945001 {source="DOID:732"}
xref: SCTID:198551002 {source="DOID:732"}
xref: SCTID:4985009 {source="DOID:732", source="MONDO:equivalentTo"}
xref: UMLS:C0041969 {source="MEDGEN:22569", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="DOID:732", source="MESH:D014522", source="MONDO:Redundant", source="NCIT:C26903"} ! urinary system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0004185
name: ovarian serous cystadenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." [NCIT:C40032]
synonym: "ovarian serous cystadenofibroma" EXACT [NCIT:C40032]
synonym: "ovary serous cystadenofibroma" EXACT [MONDO:patterns/location]
xref: DOID:7320 {source="MONDO:equivalentTo"}
xref: MEDGEN:167919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40032 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7320"}
xref: UMLS:C0877572 {source="MEDGEN:167919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003464 {source="NCIT:C40032"} ! cystadenofibroma
is_a: MONDO:0006340 {source="DOID:7320", source="NCIT:C40032"} ! ovarian serous adenofibroma
intersection_of: MONDO:0005182 ! serous cystadenofibroma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0004186
name: cranial nodular fasciitis
def: "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:C27248]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cranial nodular fasciitis" EXACT [NCIT:C27248]
synonym: "cranial pseudosarcomatous fasciitis" EXACT [NCIT:C27248]
xref: DOID:7326 {source="MONDO:equivalentTo"}
xref: MEDGEN:272511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27248 {source="DOID:7326", source="MONDO:equivalentTo"}
xref: UMLS:C1333162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272511"}
is_a: MONDO:0004187 {source="DOID:7326", source="MONDO:Redundant", source="NCIT:C27248"} ! nodular fasciitis
intersection_of: MONDO:0004187 ! nodular fasciitis
intersection_of: disease_has_location UBERON:0003128 ! cranium

[Term]
id: MONDO:0004187
name: nodular fasciitis
def: "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:C3827]
subset: gard_rare {source="GARD:21959", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477742"}
subset: orphanet_rare {source="Orphanet:477742"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fasciitis - nodular" EXACT [DOID:7327]
synonym: "nodular fasciitis" EXACT [DOID:7327, MONDO:0018785, NCIT:C3827]
synonym: "pseudosarcomatous fasciitis" EXACT [DOID:7327, NCIT:C3827, Orphanet:477742]
synonym: "pseudosarcomatous fibromatosis" EXACT [DOID:7327, Orphanet:477742]
xref: DOID:7327 {source="MONDO:equivalentTo"}
xref: GARD:21959 {source="MONDO:GARD"}
xref: ICD10CM:M72.4 {source="DOID:7327", source="MONDO:equivalentTo"}
xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3827 {source="DOID:7327", source="MONDO:equivalentTo"}
xref: Orphanet:477742 {source="MONDO:equivalentTo"}
xref: SCTID:156729009 {source="DOID:7327"}
xref: SCTID:203057005 {source="DOID:7327"}
xref: SCTID:268106003 {source="DOID:7327"}
xref: SCTID:35548007 {source="DOID:7327"}
xref: SCTID:400138001 {source="DOID:7327", source="MONDO:equivalentTo"}
xref: SCTID:47284001 {source="DOID:7327"}
xref: SCTID:703616008 {source="DOID:7327"}
xref: UMLS:C0410005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96076"}
is_a: MONDO:0004830 {source="DOID:7327"} ! fasciitis
is_a: MONDO:0006209 {source="NCIT:C3827", source="NCIT:C3827/inferred"} ! fibroblastic neoplasm
is_a: MONDO:0006424 {source="Orphanet:477742"} ! soft tissue neoplasm
is_a: MONDO:0019296 {source="Orphanet:477742"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare

[Term]
id: MONDO:0004188
name: iris spindle cell melanoma
def: "A spindle cell melanoma that involves the iris." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "iris spindle cell melanoma" EXACT [MONDO:patterns/location]
synonym: "spindle cell melanoma of iris" EXACT [NCIT:C6098]
synonym: "spindle cell melanoma of the iris" EXACT [NCIT:C6098]
xref: DOID:7328 {source="MONDO:equivalentTo"}
xref: MEDGEN:232672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6098 {source="DOID:7328", source="MONDO:equivalentTo"}
xref: UMLS:C1334287 {source="MEDGEN:232672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003744 {source="DOID:7328", source="NCIT:C6098"} ! spindle cell intraocular melanoma
is_a: MONDO:0004064 {source="DOID:7328", source="MONDO:Redundant", source="NCIT:C6098"} ! iris melanoma
is_a: MONDO:0006427 {source="DOID:7328", source="MONDO:Redundant", source="NCIT:C6098/inferred"} ! spindle cell melanoma
is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C6098/inferred"} ! uveal melanoma
intersection_of: MONDO:0006427 ! spindle cell melanoma
intersection_of: disease_has_location UBERON:0001769 ! iris

[Term]
id: MONDO:0004189
name: esophageal tuberculosis
def: "A tuberculosis that involves the esophagus." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophagus tuberculosis" EXACT [MONDO:patterns/location]
synonym: "oesophagus tuberculosis" EXACT OMO:0003005 []
synonym: "tuberculosis of esophagus" EXACT [DOID:7332]
synonym: "tuberculosis of oesophagus" EXACT OMO:0003005 []
xref: DOID:7332 {source="MONDO:equivalentTo"}
xref: ICD9:017.8 {source="DOID:7332"}
xref: ICD9:017.80 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:017.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:017.83 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:15284007 {source="MONDO:equivalentTo", source="DOID:7332"}
xref: UMLS:C0152902 {source="MEDGEN:509082", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="DOID:7332", source="MONDO:Redundant"} ! esophageal disorder
is_a: MONDO:0005768 {source="DOID:7332"} ! gastrointestinal tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0001043 ! esophagus
relationship: disease_has_feature HP:0001824 ! Weight loss
relationship: disease_has_feature HP:0002015 ! Dysphagia

[Term]
id: MONDO:0004190
name: nephrogenic adenoma of urinary bladder
def: "A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." [NCIT:P378]
synonym: "nephrogenic adenoma of the urinary bladder" EXACT [DOID:7333, NCIT:C7415]
synonym: "urinary bladder nephrogenic adenoma" EXACT [MONDO:patterns/location]
xref: DOID:7333 {source="MONDO:equivalentTo"}
xref: MEDGEN:234976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7415 {source="MONDO:equivalentTo", source="DOID:7333"}
xref: UMLS:C1336892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234976"}
is_a: MONDO:0000384 {source="DOID:7333", source="MONDO:Entailed", source="MONDO:Redundant"} ! bladder benign neoplasm
is_a: MONDO:0004191 {source="DOID:7333", source="MONDO:Redundant", source="NCIT:C7415"} ! nephrogenic adenoma
intersection_of: MONDO:0004191 ! nephrogenic adenoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0004191
name: nephrogenic adenoma
def: "So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria." [NCIT:C7413]
synonym: "nephrogenic adenoma" EXACT [NCIT:C7413]
xref: DOID:7334 {source="MONDO:equivalentTo"}
xref: MEDGEN:452429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7413 {source="DOID:7334", source="MONDO:equivalentTo"}
xref: NCIT:C97097 {source="DOID:7334", source="MONDO:otherHierarchy"}
xref: SCTID:78236000 {source="DOID:7334"}
xref: UMLS:C0334039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452429"}
is_a: MONDO:0002513 {source="DOID:7334"} ! kidney benign neoplasm

[Term]
id: MONDO:0004192
name: urethra cancer
def: "A malignant neoplasm involving the urethra" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of urethra" EXACT [DOID:734, MONDO:patterns/cancer]
synonym: "malignant neoplasm of the urethra" EXACT [NCIT:C7507]
synonym: "malignant neoplasm of urethra" EXACT [MONDO:patterns/cancer, NCIT:C7507]
synonym: "malignant tumor of the urethra" EXACT [NCIT:C7507]
synonym: "malignant tumor of urethra" EXACT [DOID:734, NCIT:C7507]
synonym: "malignant tumour of the urethra" EXACT OMO:0003005 []
synonym: "malignant tumour of urethra" EXACT OMO:0003005 []
synonym: "malignant urethra neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7507]
synonym: "malignant urethra tumor" EXACT [NCIT:C7507]
synonym: "malignant urethra tumour" EXACT OMO:0003005 []
synonym: "malignant urethral neoplasm" EXACT [DOID:734, NCIT:C7507]
synonym: "malignant urethral tumor" EXACT [NCIT:C7507]
synonym: "malignant urethral tumour" EXACT OMO:0003005 []
synonym: "urethra cancer" EXACT [MONDO:patterns/location]
synonym: "urethral Ca" EXACT [DOID:734]
synonym: "urethral cancer" RELATED [ONCOTREE:UCA]
xref: DOID:734 {source="MONDO:equivalentTo"}
xref: ICD10CM:C68.0 {source="DOID:734", source="MONDO:equivalentTo"}
xref: ICD9:189.3 {source="DOID:734", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014523 {source="DOID:734"}
xref: NCIT:C7507 {source="DOID:734", source="MONDO:equivalentTo"}
xref: NCIT:C9106 {source="DOID:734"}
xref: ONCOTREE:UCA {source="MONDO:equivalentTo"}
xref: SCTID:154544009 {source="DOID:734"}
xref: SCTID:363459007 {source="DOID:734", source="MONDO:equivalentTo"}
xref: SCTID:94123008 {source="DOID:734"}
xref: UMLS:C0153620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57565"}
is_a: MONDO:0004184 {source="DOID:734", source="MONDO:Redundant", source="NCIT:C7507/inferred"} ! urethral disorder
is_a: MONDO:0006295 {source="DOID:734", source="ICD10CM:C68.0/inferred", source="MONDO:Redundant", source="NCIT:C7507"} ! malignant urinary system neoplasm
is_a: MONDO:0021239 {source="MONDO:Redundant", source="NCIT:C7507"} ! urethra neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0004193
name: pediatric ovarian dysgerminoma
def: "A dysgerminoma that arises from the ovary and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood dysgerminoma" EXACT [NCIT:C6550]
synonym: "childhood dysgerminoma of ovary" EXACT []
synonym: "childhood ovarian dysgerminoma" EXACT [NCIT:C6550]
synonym: "childhood ovarian germinomatous germ cell tumor" EXACT [NCIT:C6550]
synonym: "childhood ovarian germinomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "dysgerminoma of ovary of childhood" EXACT [MONDO:patterns/childhood]
synonym: "paediatric dysgerminoma of ovary" EXACT OMO:0003005 []
synonym: "pediatric dysgerminoma of ovary" EXACT [MONDO:patterns/childhood]
xref: DOID:7340 {source="MONDO:equivalentTo"}
xref: MEDGEN:272465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6550 {source="MONDO:equivalentTo", source="DOID:7340"}
xref: UMLS:C1332988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272465"}
is_a: MONDO:0003481 {source="DOID:7340", source="NCIT:C6550"} ! dysgerminoma of ovary
is_a: MONDO:0003760 {source="DOID:7340", source="NCIT:C6550/inferred"} ! pediatric ovarian germ cell tumor
intersection_of: MONDO:0003481 ! dysgerminoma of ovary
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004194
name: ovarian stromal hyperthecosis
def: "A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels." [NCIT:P378]
xref: DOID:7347 {source="MONDO:equivalentTo"}
xref: MEDGEN:309519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40446 {source="DOID:7347", source="MONDO:equivalentTo"}
xref: UMLS:C1518743 {source="MONDO:equivalentTo", source="MEDGEN:309519", source="MONDO:MEDGEN"}
is_a: MONDO:0005558 {source="DOID:7347", source="NCIT:C40446/inferred"} ! ovarian disorder

[Term]
id: MONDO:0004195
name: thymic dysplasia
def: "The developmental arrest and architectural distortion of the thymus that results in immunodeficiency." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7350 {source="MONDO:equivalentTo"}
xref: MEDGEN:231314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27802 {source="MONDO:equivalentTo", source="DOID:7350"}
xref: UMLS:C1331541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231314"}
is_a: MONDO:0003393 {source="DOID:7350", source="NCIT:C27802", source="NCIT:C27802/inferred"} ! thymus gland disorder

[Term]
id: MONDO:0004196
name: rectal sarcomatoid carcinoma
def: "A biphasic rectal carcinoma with a spindle cell, sarcomatoid component." [NCIT:C5556]
synonym: "rectal sarcomatoid cancer" EXACT [NCIT:C5556]
synonym: "rectal sarcomatoid carcinoma" EXACT [NCIT:C5556]
synonym: "rectal spindle cell carcinoma" EXACT [NCIT:C5556]
synonym: "rectum sarcomatoid carcinoma" EXACT [DOID:7356, MONDO:patterns/location]
synonym: "sarcomatoid carcinoma of rectum" EXACT [DOID:7356, NCIT:C5556]
synonym: "sarcomatoid carcinoma of the rectum" EXACT [NCIT:C5556]
xref: DOID:7356 {source="MONDO:equivalentTo"}
xref: MEDGEN:235533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5556 {source="DOID:7356", source="MONDO:equivalentTo"}
xref: UMLS:C1335689 {source="MONDO:equivalentTo", source="MEDGEN:235533", source="MONDO:MEDGEN"}
is_a: MONDO:0006406 {source="DOID:7356", source="MONDO:Redundant", source="NCIT:C5556/inferred"} ! sarcomatoid carcinoma
intersection_of: MONDO:0006406 ! sarcomatoid carcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum
relationship: excluded_subClassOf MONDO:0018515 {source="DOID:7356", source="https://orcid.org/0000-0001-5208-3432"} ! squamous cell carcinoma of rectum

[Term]
id: MONDO:0004197
name: male urethral cancer
def: "A cancer involving a male urethra." [MONDO:patterns/cancer]
synonym: "cancer of male urethra" EXACT [MONDO:patterns/cancer]
synonym: "male urethra cancer" EXACT [MONDO:patterns/location]
synonym: "Male urethral malignant neoplasm" EXACT [NCIT:C39867]
synonym: "malignant male urethra neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of male urethra" EXACT [MONDO:patterns/cancer]
xref: DOID:736 {source="MONDO:equivalentTo"}
xref: MEDGEN:273546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39867 {source="DOID:736", source="MONDO:equivalentTo"}
xref: UMLS:C1518164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273546"}
is_a: MONDO:0004192 {source="DOID:736", source="MONDO:Redundant", source="NCIT:C39867"} ! urethra cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001333 ! male urethra

[Term]
id: MONDO:0004198
name: testicular yolk sac tumor, solid pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli." [NCIT:C39925]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "solid pattern testicular yolk sac tumor" RELATED [DOID:7360]
synonym: "solid pattern testicular yolk sac tumour" RELATED OMO:0003005 []
synonym: "testicular yolk sac tumor, solid pattern" EXACT [NCIT:C39925]
xref: DOID:7360 {source="MONDO:equivalentTo"}
xref: MEDGEN:308263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39925 {source="MONDO:equivalentTo", source="DOID:7360", source="NCIT:C39925"}
xref: UMLS:C1515312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308263"}
is_a: MONDO:0003402 {source="DOID:7360", source="NCIT:C39925"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004199
name: vulvar keratinizing squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls." [NCIT:C40284]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "vulvar keratinizing squamous cell carcinoma" EXACT [NCIT:C40284]
xref: DOID:7363 {source="MONDO:equivalentTo"}
xref: MEDGEN:378346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40284 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7363"}
xref: UMLS:C2109334 {source="MONDO:equivalentTo", source="MEDGEN:378346", source="MONDO:MEDGEN"}
is_a: MONDO:0005056 {source="MONDO:Redundant", source="NCIT:C40284"} ! keratinizing squamous cell carcinoma
is_a: MONDO:0024609 {source="DOID:7363", source="MONDO:Redundant", source="NCIT:C40284"} ! vulvar squamous cell carcinoma
intersection_of: MONDO:0005056 ! keratinizing squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva
relationship: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0004200
name: superficial urinary bladder carcinoma
def: "A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade." [NCIT:P378]
synonym: "superficial bladder cancer" EXACT [NCIT:C27474]
synonym: "superficial bladder carcinoma" EXACT [NCIT:C27474]
synonym: "superficial urinary bladder cancer" EXACT [DOID:7371, NCIT:C27474]
synonym: "superficial urinary bladder carcinoma" EXACT [NCIT:C27474]
xref: DOID:7371 {source="MONDO:equivalentTo"}
xref: MEDGEN:234371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27474 {source="MONDO:equivalentTo", source="DOID:7371"}
xref: SCTID:425231005 {source="MONDO:equivalentTo", source="DOID:7371"}
xref: UMLS:C1336527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234371"}
is_a: MONDO:0004986 {source="DOID:7371", source="NCIT:C27474"} ! urinary bladder carcinoma

[Term]
id: MONDO:0004201
name: pituitary hypoplasia
def: "Incomplete development of the pituitary gland." [NCIT:C27343]
synonym: "pituitary gland hypoplasia" RELATED [NCIT:C27343]
synonym: "pituitary hypoplasia" EXACT [NCIT:C27343]
xref: DOID:7378 {source="MONDO:equivalentTo"}
xref: MEDGEN:215300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27343 {source="DOID:7378", source="NCIT:C27343", source="MONDO:equivalentTo"}
xref: UMLS:C0948740 {source="MEDGEN:215300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003381 {source="DOID:7378", source="NCIT:C27343/inferred"} ! pituitary gland disorder

[Term]
id: MONDO:0004202
name: adrenal medulla carcinoma
def: "A carcinoma that arises from epithelial cells of the adrenal medulla" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adrenal medulla carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of adrenal medulla" EXACT [MONDO:patterns/carcinoma]
xref: DOID:7379 {source="MONDO:equivalentTo"}
xref: NCIT:C9276 {source="DOID:7379", source="MONDO:directSiblingOf"}
is_a: MONDO:0003606 {source="DOID:7379", source="MONDO:Entailed", source="MONDO:Redundant"} ! adrenal medulla cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001236 ! adrenal medulla

[Term]
id: MONDO:0004203
name: female urethral cancer
def: "A cancer that involves the female urethra." [MONDO:patterns/location]
synonym: "cancer of female urethra" EXACT [MONDO:patterns/cancer]
synonym: "female urethra cancer" EXACT [MONDO:patterns/location]
synonym: "female urethral malignant neoplasm" EXACT [NCIT:C39866]
synonym: "malignant female urethra neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of female urethra" EXACT [MONDO:patterns/cancer]
xref: DOID:738 {source="MONDO:equivalentTo"}
xref: MEDGEN:273303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39866 {source="DOID:738", source="MONDO:equivalentTo"}
xref: UMLS:C1517154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273303"}
is_a: MONDO:0004192 {source="DOID:738", source="MONDO:Redundant", source="NCIT:C39866"} ! urethra cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001334 ! female urethra

[Term]
id: MONDO:0004204
name: squamous cell skin papilloma
def: "A squamous papilloma that involves the zone of skin." [MONDO:patterns/location]
synonym: "Dyskeratotic papilloma of skin" EXACT [NCIT:C4462]
synonym: "Dyskeratotic papilloma of the skin" EXACT [NCIT:C4462]
synonym: "Dyskeratotic skin papilloma" EXACT [NCIT:C4462]
synonym: "hyperkeratotic papilloma of skin" EXACT [NCIT:C4462]
synonym: "hyperkeratotic papilloma of the skin" EXACT [NCIT:C4462]
synonym: "hyperkeratotic skin papilloma" EXACT [NCIT:C4462]
synonym: "parakeratotic papilloma of skin" EXACT [NCIT:C4462]
synonym: "parakeratotic papilloma of the skin" EXACT [NCIT:C4462]
synonym: "parakeratotic skin papilloma" EXACT [DOID:7380, NCIT:C4462]
synonym: "squamous cell papilloma of skin" EXACT [NCIT:C4462]
synonym: "squamous cell papilloma of the skin" EXACT [NCIT:C4462]
synonym: "squamous cell skin papilloma" EXACT [NCIT:C4462]
synonym: "zone of skin squamous papilloma" EXACT [MONDO:patterns/location]
xref: DOID:7380 {source="MONDO:equivalentTo"}
xref: MEDGEN:83397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4462 {source="DOID:7380", source="MONDO:equivalentTo"}
xref: SCTID:254661000 {source="DOID:7380", source="MONDO:equivalentTo"}
xref: UMLS:C0345983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83397"}
is_a: MONDO:0001825 {source="DOID:7380", source="MONDO:Redundant", source="NCIT:C4462"} ! squamous papilloma
is_a: MONDO:0002536 {source="DOID:7380", source="MONDO:Redundant", source="NCIT:C4462"} ! skin papilloma
intersection_of: MONDO:0001825 ! squamous papilloma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0004205
name: lymphohistiocytoid mesothelioma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7381 {source="MONDO:equivalentTo"}
xref: MEDGEN:235269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27779 {source="MONDO:equivalentTo", source="DOID:7381"}
xref: UMLS:C1334464 {source="MONDO:equivalentTo", source="MEDGEN:235269", source="MONDO:MEDGEN"}
is_a: MONDO:0006407 {source="NCIT:C27779"} ! sarcomatoid mesothelioma
relationship: excluded_subClassOf MONDO:0005112 {source="DOID:7381", source="https://orcid.org/0000-0001-5208-3432"} ! malignant pleural mesothelioma

[Term]
id: MONDO:0004206
name: pulmonary vein leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5374]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leiomyosarcoma of pulmonary vein" EXACT [NCIT:C5374]
synonym: "leiomyosarcoma of the pulmonary vein" EXACT [DOID:7388, NCIT:C5374]
synonym: "pulmonary vein leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:7388 {source="MONDO:equivalentTo"}
xref: MEDGEN:235513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5374 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7388"}
xref: UMLS:C1335575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235513"}
is_a: MONDO:0004634 {source="DOID:7388", source="MONDO:Entailed", source="MONDO:Redundant"} ! vein disorder
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002016 ! pulmonary vein
relationship: excluded_subClassOf MONDO:0004207 {source="DOID:7388", source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary artery leiomyosarcoma

[Term]
id: MONDO:0004207
name: pulmonary artery leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5373]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leiomyosarcoma of pulmonary artery" EXACT [NCIT:C5373]
synonym: "leiomyosarcoma of the pulmonary artery" EXACT [DOID:7389, NCIT:C5373]
synonym: "pulmonary artery leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:7389 {source="MONDO:equivalentTo"}
xref: MEDGEN:233372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5373 {source="DOID:7389", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335572 {source="MEDGEN:233372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005058 {source="DOID:7389", source="MONDO:Redundant", source="NCIT:C5373/inferred"} ! leiomyosarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0002012 ! pulmonary artery

[Term]
id: MONDO:0004208
name: superior vena cava leiomyosarcoma
def: "An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6745]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anterior vena cava leiomyosarcoma" EXACT [MONDO:patterns/location]
synonym: "leiomyosarcoma of anterior vena cava" EXACT []
synonym: "leiomyosarcoma of Superior vena cava" EXACT [NCIT:C6745]
synonym: "leiomyosarcoma of the Superior vena cava" EXACT [DOID:7390, NCIT:C6745]
xref: DOID:7390 {source="MONDO:equivalentTo"}
xref: MEDGEN:236963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6745 {source="MONDO:equivalentTo", source="DOID:7390", source="MONDO:exact-label-match"}
xref: UMLS:C1336531 {source="MONDO:equivalentTo", source="MEDGEN:236963", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0001585 ! anterior vena cava
relationship: excluded_subClassOf MONDO:0004207 {source="DOID:7390", source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary artery leiomyosarcoma

[Term]
id: MONDO:0004209
name: cerebral primitive neuroectodermal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres." [NCIT:P378]
synonym: "cerebral embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C4970]
synonym: "cerebral embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C4970]
synonym: "cerebral hemisphere PNET" EXACT [NCIT:C4970]
synonym: "cerebral hemisphere primitive neuroectodermal neoplasm" EXACT [NCIT:C4970]
synonym: "cerebral hemisphere primitive neuroectodermal tumor" EXACT [NCIT:C4970]
synonym: "cerebral hemisphere primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "cerebral PNET" EXACT [NCIT:C4970]
synonym: "cerebral primitive neuroectodermal neoplasm" EXACT [NCIT:C4970]
synonym: "cerebral primitive neuroectodermal tumor" EXACT [NCIT:C4970]
synonym: "PNET of cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "PNET of cerebrum" EXACT [DOID:7398, NCIT:C4970]
synonym: "PNET of the cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "PNET of the cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal neoplasm of cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal neoplasm of cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal neoplasm of the cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal neoplasm of the cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumor of cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumor of cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumor of the cerebral hemispheres" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumor of the cerebrum" EXACT [NCIT:C4970]
synonym: "primitive neuroectodermal tumour of cerebral hemispheres" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of cerebrum" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of the cerebral hemispheres" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of the cerebrum" EXACT OMO:0003005 []
xref: DOID:7398 {source="MONDO:equivalentTo"}
xref: MEDGEN:155905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018242 {source="DOID:7398"}
xref: NCIT:C4970 {source="MONDO:equivalentTo", source="DOID:7398"}
xref: UMLS:C0751675 {source="MEDGEN:155905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002731 {source="DOID:7398", source="NCIT:C4970"} ! cerebral hemisphere cancer
is_a: MONDO:0003145 {source="NCIT:C4970"} ! supratentorial primitive neuroectodermal tumor

[Term]
id: MONDO:0004210
name: colonic L-cell glucagon-like peptide producing tumor
def: "A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27447]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "colon L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27447]
synonym: "colon L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:patterns/location, NCIT:C27447]
synonym: "colon L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "colonic L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27447]
synonym: "colonic L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of colon" EXACT [MONDO:design_pattern]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumour of colon" EXACT OMO:0003005 []
xref: DOID:7401 {source="MONDO:equivalentTo"}
xref: MEDGEN:475772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27447 {source="DOID:7401", source="MONDO:equivalentTo"}
xref: UMLS:C3274139 {source="MEDGEN:475772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005401 {source="DOID:7401", source="NCIT:C27447/inferred"} ! colonic neoplasm
is_a: MONDO:0015067 {source="MONDO:Redundant", source="NCIT:C27447"} ! neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor
intersection_of: MONDO:0004211 ! L-cell glucagon-like peptide-producing neuroendocrine tumor
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0004211
name: L-cell glucagon-like peptide-producing neuroendocrine tumor
def: "A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27448]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "L-cell glucagon-like peptide producing tumor" RELATED [DOID:7402]
synonym: "L-cell glucagon-like peptide producing tumour" RELATED OMO:0003005 []
synonym: "L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27448]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27448]
xref: DOID:7402 {source="MONDO:equivalentTo"}
xref: ICDO:8152/1 {source="NCIT:C27448"}
xref: MEDGEN:475773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27448 {source="DOID:7402", source="MONDO:equivalentTo"}
xref: UMLS:C3274140 {source="MONDO:equivalentTo", source="MEDGEN:475773", source="MONDO:MEDGEN"}
is_a: MONDO:0000386 {source="NCIT:C27448"} ! digestive system neuroendocrine tumor, grade 1/2
relationship: excluded_subClassOf MONDO:0002891 {source="DOID:7402", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete gastrointestinal neuroendocrine benign tumor

[Term]
id: MONDO:0004212
name: vulvar keratoacanthoma-like carcinoma
def: "A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor." [NCIT:C40288]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "vulvar squamous cell carcinoma, keratoacanthoma type" EXACT [NCIT:C40288]
xref: DOID:7408 {source="MONDO:equivalentTo"}
xref: NCIT:C40288 {source="MONDO:equivalentObsolete", source="DOID:7408"}
is_a: MONDO:0024609 {source="DOID:7408", source="NCIT:C40288"} ! vulvar squamous cell carcinoma

[Term]
id: MONDO:0004213
name: vulvar non-keratinizing squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7409 {source="MONDO:equivalentTo"}
xref: MEDGEN:311488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40285 {source="MONDO:equivalentTo", source="DOID:7409"}
xref: UMLS:C1520092 {source="MONDO:equivalentTo", source="MEDGEN:311488", source="MONDO:MEDGEN"}
is_a: MONDO:0024609 {source="DOID:7409", source="NCIT:C40285"} ! vulvar squamous cell carcinoma
disjoint_from: MONDO:0005056 ! keratinizing squamous cell carcinoma

[Term]
id: MONDO:0004214
name: ovarian endometrioid cystadenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma." [NCIT:C27288]
synonym: "ovarian endometrioid cystadenofibroma" EXACT [NCIT:C27288]
xref: DOID:7411 {source="MONDO:equivalentTo"}
xref: MEDGEN:233272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27288 {source="DOID:7411", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335158 {source="MEDGEN:233272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003463 {source="DOID:7411", source="MONDO:Redundant", source="NCIT:C27288"} ! ovarian endometrioid adenofibroma
is_a: MONDO:0003464 {source="MONDO:Redundant", source="NCIT:C27288"} ! cystadenofibroma
intersection_of: MONDO:0003463 {source="NCIT:C27288"} ! ovarian endometrioid adenofibroma
intersection_of: MONDO:0003464 {source="NCIT:C27288"} ! cystadenofibroma

[Term]
id: MONDO:0004215
name: cutaneous anthrax
def: "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center." [DOID:7426, http://emedicine.medscape.com/article/212127-overview#a0104, http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous]
synonym: "anthrax, skin type" RELATED [GARD:0008158]
synonym: "skin anthrax" RELATED [GARD:0008158]
xref: DOID:7426 {source="MONDO:equivalentTo"}
xref: ICD10CM:A22.0 {source="DOID:7426", source="MONDO:equivalentTo"}
xref: ICD9:022.0 {source="DOID:7426", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531621 {source="DOID:7426", source="MONDO:equivalentTo"}
xref: SCTID:84980006 {source="DOID:7426", source="MONDO:equivalentTo"}
xref: UMLS:C0003177 {source="MEDGEN:1959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005119 {source="DOID:7426", source="MESH:C531621", source="MONDO:Redundant"} ! anthrax infection
is_a: MONDO:0024295 {source="MESH:C531621", source="MONDO:Redundant"} ! skin disease caused by bacterial infection
intersection_of: MONDO:0005119 ! anthrax infection
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
relationship: disease_has_infectious_agent NCBITaxon:1392 ! Bacillus anthracis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8158/cutaneous-anthrax" xsd:anyURI {source="GARD:0008158"}

[Term]
id: MONDO:0004216
name: pineal region germinoma
def: "A germinoma that arises from the pineal gland." [NCIT:P378]
comment: Editor note: we place the Orphanet class here rather than under CNS germinoma due to its relationship to pituitary hormone deficiency
subset: gard_rare {source="GARD:19162", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:91352"}
subset: rare
synonym: "germinoma" BROAD [NCIT:C8712]
synonym: "pineal germinoma" EXACT [NCIT:C8712]
xref: DOID:7428 {source="MONDO:equivalentTo"}
xref: GARD:19162 {source="MONDO:GARD"}
xref: MEDGEN:208928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8712 {source="MONDO:equivalentTo", source="DOID:7428", source="UMLS:C0854912"}
xref: Orphanet:91352 {source="MONDO:equivalentTo"}
xref: UMLS:C0854912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208928"}
is_a: MONDO:0002073 {source="DOID:7428", source="MONDO:Redundant", source="NCIT:C8712"} ! malignant pineal area germ cell neoplasm
is_a: MONDO:0002214 {source="MONDO:Redundant", source="NCIT:C8712"} ! brain germinoma
is_a: MONDO:0003000 {source="MONDO:Redundant", source="NCIT:C8712/inferred"} ! central nervous system germ cell tumor
is_a: MONDO:0015935 {source="Orphanet:91352"} ! extragonadal germinoma
intersection_of: MONDO:0002598 ! germinoma
intersection_of: disease_has_location UBERON:0001905 ! pineal body
relationship: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0004217
name: childhood brain germinoma
def: "A germinoma arising from the brain during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain germinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "germinoma of childhood brain" EXACT [NCIT:C6207]
synonym: "germinoma of paediatric brain" EXACT OMO:0003005 []
synonym: "germinoma of pediatric brain" EXACT [NCIT:C6207]
synonym: "germinoma of the childhood brain" EXACT [NCIT:C6207]
synonym: "germinoma of the paediatric brain" EXACT OMO:0003005 []
synonym: "germinoma of the pediatric brain" EXACT [DOID:7429, NCIT:C6207]
synonym: "paediatric brain germ cell cancer" EXACT OMO:0003005 []
synonym: "paediatric brain germinoma" EXACT OMO:0003005 []
synonym: "pediatric brain germ cell cancer" EXACT [NCIT:C6207]
synonym: "pediatric brain germinoma" EXACT [MONDO:patterns/childhood, NCIT:C6207]
xref: DOID:7429 {source="MONDO:equivalentTo"}
xref: MEDGEN:272458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6207 {source="DOID:7429", source="MONDO:equivalentTo"}
xref: UMLS:C1332948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272458"}
is_a: MONDO:0002214 {source="DOID:7429", source="MONDO:Redundant", source="NCIT:C6207"} ! brain germinoma
intersection_of: MONDO:0002214 ! brain germinoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004218
name: childhood germ cell brain tumor
def: "A germ cell tumor arising from brain during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Brain germ cell tumor" EXACT [NCIT:C5795]
synonym: "Brain germ cell tumour" EXACT OMO:0003005 []
synonym: "childhood brain germ cell neoplasm" EXACT [NCIT:C5795]
synonym: "childhood brain germ cell tumor" EXACT [NCIT:C5795]
synonym: "childhood brain germ cell tumour" EXACT OMO:0003005 []
synonym: "childhood germ cell brain neoplasm" EXACT [NCIT:C5795]
synonym: "germ cell neoplasm of childhood brain" EXACT [NCIT:C5795]
synonym: "germ cell neoplasm of paediatric brain" EXACT OMO:0003005 []
synonym: "germ cell neoplasm of pediatric brain" EXACT [NCIT:C5795]
synonym: "germ cell neoplasm of the childhood brain" EXACT [NCIT:C5795]
synonym: "germ cell neoplasm of the paediatric brain" EXACT OMO:0003005 []
synonym: "germ cell neoplasm of the pediatric brain" EXACT [DOID:7430, NCIT:C5795]
synonym: "germ cell tumor of childhood brain" EXACT [NCIT:C5795]
synonym: "germ cell tumor of pediatric brain" EXACT [NCIT:C5795]
synonym: "germ cell tumor of the childhood brain" EXACT [NCIT:C5795]
synonym: "germ cell tumor of the pediatric brain" EXACT [NCIT:C5795]
synonym: "germ cell tumour of childhood brain" EXACT OMO:0003005 []
synonym: "germ cell tumour of paediatric brain" EXACT OMO:0003005 []
synonym: "germ cell tumour of the childhood brain" EXACT OMO:0003005 []
synonym: "germ cell tumour of the paediatric brain" EXACT OMO:0003005 []
synonym: "paediatric brain germ cell neoplasm" EXACT OMO:0003005 []
synonym: "paediatric brain germ cell tumour" EXACT OMO:0003005 []
synonym: "pediatric brain germ cell neoplasm" EXACT [NCIT:C5795]
synonym: "pediatric brain germ cell tumor" EXACT [NCIT:C5795]
xref: DOID:7430 {source="MONDO:equivalentTo"}
xref: MEDGEN:277987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200108 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C5795 {source="MONDO:equivalentTo", source="DOID:7430"}
xref: UMLS:C1377598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277987"}
is_a: MONDO:0003750 {source="DOID:7430", source="NCIT:C5795"} ! childhood central nervous system germ cell tumor

[Term]
id: MONDO:0004219
name: polyvesicular vitelline pattern testicular yolk sac tumor
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue." [NCIT:C39930]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular yolk Sac tumor, polyvesicular vitelline pattern" RELATED [NCIT:C39930]
xref: DOID:7435 {source="MONDO:equivalentTo"}
xref: MEDGEN:273638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39930 {source="DOID:7435", source="MONDO:equivalentTo", source="NCIT:C39930"}
xref: UMLS:C1515311 {source="MEDGEN:273638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003402 {source="DOID:7435", source="NCIT:C39930"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004220
name: endometrial endometrioid adenocarcinoma with spindled epithelial cells
def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells." [NCIT:C27850]
synonym: "endometrial endometrioid adenocarcinoma with spindled epithelial cells" EXACT [NCIT:C27850]
synonym: "sarcomatoid uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C27850]
xref: DOID:7436 {source="MONDO:equivalentTo"}
xref: MEDGEN:234979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27850 {source="DOID:7436", source="NCIT:C27850", source="MONDO:equivalentTo"}
xref: UMLS:C1336913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234979"}
is_a: MONDO:0005461 {source="DOID:7436", source="NCIT:C27850/inferred"} ! endometrium adenocarcinoma
is_a: MONDO:0006192 {source="NCIT:C27850"} ! endometrial endometrioid adenocarcinoma

[Term]
id: MONDO:0004221
name: uterine corpus perivascular epithelioid cell tumor
def: "A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall." [NCIT:C40180]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body of uterus neoplasm with perivascular epithelioid cell differentiation" EXACT [MONDO:patterns/location]
synonym: "uterine corpus PEComa" EXACT [DOID:7437, NCIT:C40180]
synonym: "uterine corpus perivascular epithelioid cell tumor" EXACT [NCIT:C40180]
synonym: "uterine perivascular epithelioid cell tumor" RELATED [ONCOTREE:UPECOMA]
synonym: "uterine perivascular epithelioid cell tumour" RELATED OMO:0003005 []
synonym: "uterus perivascular epithelioid cell tumor" RELATED [DOID:7437]
synonym: "uterus perivascular epithelioid cell tumour" RELATED OMO:0003005 []
xref: DOID:7437 {source="MONDO:equivalentTo"}
xref: MEDGEN:276940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40180 {source="NCIT:C40180", source="DOID:7437", source="MONDO:equivalentTo"}
xref: ONCOTREE:UPECOMA {source="MONDO:equivalentTo"}
xref: UMLS:C1519862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276940"}
is_a: MONDO:0006359 {source="DOID:7437", source="MONDO:Redundant", source="NCIT:C40180"} ! neoplasm with perivascular epithelioid cell differentiation
intersection_of: MONDO:0006359 ! neoplasm with perivascular epithelioid cell differentiation
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: excluded_subClassOf MONDO:0006003 {source="DOID:7437", source="https://orcid.org/0000-0001-5208-3432"} ! uterine corpus cancer

[Term]
id: MONDO:0004222
name: ovarian clear cell cystadenocarcinoma
def: "A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures." [NCIT:C7980]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovarian clear cell cystadenocarcinoma" EXACT [NCIT:C7980]
xref: DOID:7438 {source="MONDO:equivalentTo"}
xref: MEDGEN:76012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7980 {source="DOID:7438", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0279667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76012"}
is_a: MONDO:0002702 {source="DOID:7438", source="MONDO:Redundant", source="NCIT:C7980"} ! ovarian cystadenocarcinoma
is_a: MONDO:0006045 {source="MONDO:Redundant", source="NCIT:C7980"} ! ovarian clear cell adenocarcinoma
intersection_of: MONDO:0002702 {source="NCIT:C7980"} ! ovarian cystadenocarcinoma
intersection_of: MONDO:0006045 {source="NCIT:C7980"} ! ovarian clear cell adenocarcinoma

[Term]
id: MONDO:0004223
name: polyp of middle ear
def: "A benign polypoid growth in the middle ear." [NCIT:P378]
synonym: "middle Ear polyp" EXACT [NCIT:C6933]
synonym: "middle ear polyp" EXACT [MONDO:patterns/location]
synonym: "polyp - middle ear" EXACT [DOID:7439]
synonym: "polyp of the middle ear" EXACT [DOID:7439, NCIT:C6933]
xref: DOID:7439 {source="MONDO:equivalentTo"}
xref: ICD10CM:H74.4 {source="MONDO:equivalentTo", source="DOID:7439"}
xref: MEDGEN:124403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6933 {source="MONDO:equivalentTo", source="DOID:7439"}
xref: SCTID:155244001 {source="DOID:7439"}
xref: SCTID:267766007 {source="DOID:7439"}
xref: SCTID:73103007 {source="MONDO:equivalentTo", source="DOID:7439"}
xref: UMLS:C0271466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124403"}
is_a: MONDO:0003276 {source="DOID:7439", source="MONDO:Redundant", source="NCIT:C6933/inferred"} ! middle ear disorder
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C6933/inferred"} ! polyp
is_a: MONDO:0021366 {source="MONDO:Redundant", source="NCIT:C6933/inferred"} ! neoplasm of middle ear
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0004224
name: chronic metabolic polyneuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chronic metabolic polyneuropathy" EXACT [NCIT:C35602]
xref: DOID:7441 {source="MONDO:equivalentTo"}
xref: MEDGEN:272482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35602 {source="MONDO:equivalentTo", source="DOID:7441"}
xref: UMLS:C1333042 {source="MONDO:equivalentTo", source="MEDGEN:272482", source="MONDO:MEDGEN"}
is_a: MONDO:0003335 {source="DOID:7441", source="NCIT:C35602"} ! chronic polyneuropathy

[Term]
id: MONDO:0004225
name: monoclonal gammopathy of uncertain significance
def: "A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." [NCIT:C3996]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "benign monoclonal gammopathy" EXACT [MONDO:0006675]
synonym: "MGUS" EXACT ABBREVIATION [DOID:7442, NCIT:C3996, ONCOTREE:MGUS]
synonym: "monoclonal gammopathy of undetermined significance" EXACT [NCIT:C3996]
synonym: "monoclonal gammopathy Of undetermined significance (MGUS)" EXACT [NCIT:C3996]
synonym: "monoclonal gammopathy of undetermined significance (MGUS)" EXACT [NCIT:C3996]
synonym: "monoclonal gammopathy of undetermined significance (morphologic abnormality)" EXACT [DOID:7442]
synonym: "monoclonal gammopathy of unknown significance" EXACT [NCIT:C3996]
synonym: "monoclonal gammopathy, benign" EXACT [MONDO:patterns/benign]
xref: DOID:3404 {source="MONDO:obsolete", source="EFO:1000836"}
xref: DOID:7442 {source="MONDO:equivalentTo"}
xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9765/1 {source="NCIT:C3996"}
xref: MEDGEN:44485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008998 {source="MONDO:equivalentTo", source="EFO:1000836"}
xref: NCIT:C3996 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MGUS {source="MONDO:equivalentTo"}
xref: SCTID:277577000 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:58648008 {source="MONDO:equivalentTo", source="EFO:1000836"}
xref: UMLS:C0026470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44485"}
is_a: MONDO:0004960 {source="EFO:1000836", source="MESH:D008998"} ! monoclonal gammopathy
relationship: excluded_subClassOf MONDO:0004959 {source="DOID:7442", source="EFO:1000836/inferred", source="MONDO:Redundant", source="NCIT:C3996", source="https://orcid.org/0000-0001-5208-3432"} ! plasma cell neoplasm

[Term]
id: MONDO:0004226
name: diffuse intraductal papillomatosis
synonym: "diffuse intraductal papillomatosis" EXACT [DOID:7444, NCIT:C7364]
xref: DOID:7444 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:235123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7364 {source="DOID:7444", source="MONDO:equivalentTo"}
xref: SCTID:32296002 {source="DOID:7444"}
xref: UMLS:C1377912 {source="MEDGEN:235123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021098 {source="https://orcid.org/0000-0002-6601-2165"} ! papillomatosis

[Term]
id: MONDO:0004227
name: epididymal adenomatoid tumor
def: "A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis." [NCIT:C6382, NCIT:P378]
synonym: "adenomatoid neoplasm of epididymis" EXACT [NCIT:C6382]
synonym: "adenomatoid neoplasm of the epididymis" EXACT [DOID:745, NCIT:C6382]
synonym: "adenomatoid tumor of epididymis" EXACT [NCIT:C6382]
synonym: "adenomatoid tumor of the epididymis" EXACT [NCIT:C6382]
synonym: "adenomatoid tumour of epididymis" EXACT OMO:0003005 []
synonym: "adenomatoid tumour of the epididymis" EXACT OMO:0003005 []
synonym: "benign epididymal epithelial mesothelioma" EXACT [DOID:745, NCIT:C6382]
synonym: "epididymal adenomatoid tumor" EXACT [NCIT:C6382]
synonym: "epididymis adenomatoid tumor" EXACT [MONDO:patterns/location]
synonym: "epididymis adenomatoid tumour" EXACT OMO:0003005 []
xref: DOID:745 {source="MONDO:equivalentTo"}
xref: MEDGEN:232460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6382 {source="DOID:745", source="MONDO:equivalentTo"}
xref: SCTID:449052009 {source="DOID:745", source="MONDO:equivalentTo"}
xref: UMLS:C1333415 {source="MEDGEN:232460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000625 {source="DOID:745", source="MONDO:Redundant", source="NCIT:C6382/inferred"} ! benign male reproductive system neoplasm
is_a: MONDO:0004230 {source="DOID:745", source="MONDO:Redundant", source="NCIT:C6382"} ! adenomatoid tumor
is_a: MONDO:0021473 {source="MONDO:Redundant", source="NCIT:C6382"} ! benign neoplasm of epididymis
intersection_of: MONDO:0004230 ! adenomatoid tumor
intersection_of: disease_has_location UBERON:0001301 ! epididymis

[Term]
id: MONDO:0004228
name: obsolete hypogonadotropism
is_obsolete: true
replaced_by: MONDO:0018555

[Term]
id: MONDO:0004229
name: acantholytic variant squamous cell breast carcinoma
def: "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "squamous cell breast carcinoma, acantholytic variant" EXACT [NCIT:C40359]
xref: DOID:7459 {source="MONDO:equivalentTo"}
xref: MEDGEN:274268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40359 {source="DOID:7459", source="MONDO:equivalentTo"}
xref: UMLS:C1519485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274268"}
is_a: MONDO:0006056 {source="DOID:7459", source="EFO:1001969", source="NCIT:C40359"} ! squamous cell breast carcinoma

[Term]
id: MONDO:0004230
name: adenomatoid tumor
def: "A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis." [NCIT:C3762]
synonym: "adenomatoid tumor" EXACT [NCIT:C3762]
synonym: "adenomatoid tumor (morphologic abnormality)" EXACT [DOID:746]
synonym: "adenomatoid tumor NOS (morphologic abnormality)" EXACT [DOID:746]
synonym: "adenomatoid tumor, benign" EXACT [NCIT:C3762]
synonym: "adenomatoid tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "adenomatoid tumour NOS (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "benign localised epithelial mesothelioma" EXACT OMO:0003005 []
synonym: "benign localized epithelial mesothelioma" EXACT [DOID:746, NCIT:C3762]
synonym: "benign mesothelial neoplasm" RELATED [NCIT:C3762]
synonym: "benign mesothelial tumor" RELATED [NCIT:C3762]
synonym: "benign mesothelial tumour" RELATED OMO:0003005 []
synonym: "benign mesothelioma" RELATED [NCIT:C3762]
synonym: "benign neoplasm of mesothelium" RELATED [NCIT:C3762]
synonym: "benign neoplasm of the mesothelium" RELATED [NCIT:C3762]
synonym: "benign tumor of mesothelium" RELATED [NCIT:C3762]
synonym: "benign tumor of the mesothelium" RELATED [NCIT:C3762]
synonym: "benign tumour of mesothelium" RELATED OMO:0003005 []
synonym: "benign tumour of the mesothelium" RELATED OMO:0003005 []
synonym: "mesothelioma, benign" RELATED [NCIT:C3762]
xref: DOID:746 {source="MONDO:equivalentTo"}
xref: ICD10CM:D19.9 {source="DOID:746"}
xref: ICDO:9050/0 {source="NCIT:C3762"}
xref: ICDO:9052/0 {source="NCIT:C3762"}
xref: ICDO:9054/0 {source="NCIT:C3762"}
xref: MEDGEN:60207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018254 {source="DOID:746", source="MONDO:equivalentTo"}
xref: NCIT:C3762 {source="DOID:746", source="MONDO:equivalentTo"}
xref: SCTID:189835008 {source="DOID:746"}
xref: SCTID:2348006 {source="DOID:746"}
xref: SCTID:41183007 {source="DOID:746"}
xref: UMLS:C0206675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60207"}
is_a: MONDO:0005065 {source="NCIT:C3762"} ! mesothelioma

[Term]
id: MONDO:0004231
name: spindle cell variant squamous cell breast carcinoma
def: "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells." [NCIT:C40358]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "metaplastic adenocarcinoma with spindle cell differentiation" RELATED [ONCOTREE:MASCC]
synonym: "squamous cell breast carcinoma, spindle cell variant" EXACT [NCIT:C40358]
xref: DOID:7460 {source="MONDO:equivalentTo"}
xref: MEDGEN:274270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40358 {source="MONDO:equivalentTo", source="DOID:7460", source="MONDO:exact-label-match"}
xref: ONCOTREE:MASCC {source="MONDO:equivalentTo"}
xref: UMLS:C1519487 {source="MEDGEN:274270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006056 {source="DOID:7460", source="NCIT:C40358"} ! squamous cell breast carcinoma
is_a: MONDO:0021663 {source="NCIT:C40358"} ! sarcomatoid squamous cell carcinoma
intersection_of: MONDO:0006056 ! squamous cell breast carcinoma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell

[Term]
id: MONDO:0004232
name: large cell keratinizing variant squamous cell breast carcinoma
def: "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "squamous cell breast carcinoma, large cell keratinizing variant" EXACT [NCIT:C40357]
xref: DOID:7461 {source="MONDO:equivalentTo"}
xref: MEDGEN:274269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40357 {source="MONDO:equivalentTo", source="DOID:7461"}
xref: UMLS:C1519486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274269"}
is_a: MONDO:0005056 {source="NCIT:C40357"} ! keratinizing squamous cell carcinoma
is_a: MONDO:0006056 {source="DOID:7461", source="NCIT:C40357"} ! squamous cell breast carcinoma

[Term]
id: MONDO:0004233
name: childhood pleomorphic rhabdomyosarcoma
def: "A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood anaplastic rhabdomyosarcoma" EXACT [DOID:7463, NCIT:C7959]
synonym: "paediatric pleomorphic rhabdomyosarcoma" EXACT OMO:0003005 []
synonym: "pediatric pleomorphic rhabdomyosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C7959]
synonym: "pleomorphic childhood rhabdomyosarcoma" EXACT [NCIT:C7959]
synonym: "Pleomorphic rhabdomyosarcoma" EXACT [NCIT:C7959]
synonym: "pleomorphic rhabdomyosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:7463 {source="MONDO:equivalentTo"}
xref: MEDGEN:76002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7959 {source="MONDO:equivalentTo", source="DOID:7463"}
xref: UMLS:C0279614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76002"}
is_a: MONDO:0017386 {source="DOID:7463", source="MONDO:Redundant", source="NCIT:C7959"} ! pleomorphic rhabdomyosarcoma
intersection_of: MONDO:0017386 ! pleomorphic rhabdomyosarcoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004234
name: chronic lymphoproliferative disorder of NK-cells
def: "An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged." [NCIT:C39591]
subset: gard_rare {source="GARD:22072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:512017"}
subset: orphanet_rare {source="Orphanet:512017"}
subset: rare
synonym: "chronic lymphoproliferative disorder of natural killer cells" RELATED [Orphanet:512017]
synonym: "chronic lymphoproliferative disorder of NK-cells" EXACT [NCIT:C39591, Orphanet:512017]
synonym: "chronic NK lymphocytosis" EXACT [Orphanet:512017]
synonym: "chronic NK-cell lymphocytosis" EXACT [Orphanet:512017]
synonym: "chronic NK-large granular lymphocyte lymphoproliferative disorder" EXACT [NCIT:C39591]
synonym: "chronic NK-LGL lymphoproliferative disorder" EXACT [NCIT:C39591]
synonym: "CLPD-NK" EXACT [NCIT:C39591, Orphanet:512017]
synonym: "CNKL" EXACT ABBREVIATION [Orphanet:512017]
synonym: "indolent large granular NK-cell lymphoproliferative disorder" EXACT [NCIT:C39591]
synonym: "indolent NK-cell lymphoproliferative disorder" EXACT [NCIT:C39591]
synonym: "natural killer-cell large granular lymphocyte leukaemia" EXACT OMO:0003005 []
synonym: "natural killer-cell large granular lymphocyte leukemia" EXACT [NCIT:C39591]
synonym: "NK-cell large granular lymphocyte lymphocytosis" EXACT [DOID:7465, NCIT:C39591]
synonym: "NK-cell lineage granular lymphocyte proliferative disorder" EXACT [Orphanet:512017]
synonym: "NK-LGL leukaemia" EXACT OMO:0003005 []
synonym: "NK-LGL leukemia" EXACT [NCIT:C39591]
synonym: "NK-LGLL" EXACT [NCIT:C39591]
synonym: "NK-type lymphoproliferative disorder of granular lymphocytes" EXACT [NCIT:C39591]
xref: DOID:7465 {source="MONDO:equivalentTo"}
xref: GARD:22072 {source="MONDO:GARD"}
xref: icd11.foundation:921755282 {source="Orphanet:512017", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9831/3 {source="NCIT:C39591"}
xref: MEDGEN:268922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39591 {source="MONDO:equivalentTo", source="DOID:7465"}
xref: Orphanet:512017 {source="MONDO:equivalentTo"}
xref: SCTID:722955006 {source="MONDO:equivalentTo"}
xref: UMLS:C1512709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:268922"}
is_a: MONDO:0005169 {source="NCIT:C39591"} ! neoplasm of mature T-cells or NK-cells
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:7465", source="https://orcid.org/0000-0001-5208-3432"} ! type IV hypersensitivity disease

[Term]
id: MONDO:0004235
name: diverticulitis
def: "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis." [NCIT:C26752]
subset: otar {source="MONDO:OTAR"}
synonym: "digestive tract diverticulum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of digestive tract diverticulum" EXACT []
xref: DOID:7475 {source="MONDO:equivalentTo"}
xref: EFO:1001460 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:41629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004238 {source="MONDO:equivalentTo", source="DOID:7475"}
xref: NCIT:C26752 {source="MONDO:equivalentTo", source="NCIT:C26752", source="DOID:7475"}
xref: SCTID:155779000 {source="DOID:7475"}
xref: SCTID:18126004 {source="DOID:7475"}
xref: SCTID:197095003 {source="DOID:7475"}
xref: SCTID:197102009 {source="DOID:7475"}
xref: SCTID:197103004 {source="DOID:7475"}
xref: SCTID:307496006 {source="MONDO:equivalentTo", source="DOID:7475"}
xref: UMLS:C0012813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41629"}
is_a: MONDO:0005020 {source="DOID:7475", source="NCIT:C26752/inferred"} ! intestinal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0009854 ! digestive tract diverticulum
relationship: disease_has_feature HP:0002019 {source="MONDO:Wikidata"} ! Constipation
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_feature MONDO:0002203 {source="MONDO:Wikidata"} ! constipation disorder

[Term]
id: MONDO:0004236
name: duodenal somatostatinoma
def: "A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "duodenal delta cell somatostatin producing tumor" EXACT [DOID:7479]
synonym: "duodenal delta cell somatostatin producing tumour" EXACT OMO:0003005 []
synonym: "duodenal somatostatin producing tumor" EXACT [NCIT:C27407]
synonym: "duodenal somatostatin producing tumour" EXACT OMO:0003005 []
synonym: "duodenal somatostatin-producing NET" EXACT [NCIT:C27407]
synonym: "duodenal somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C27407]
synonym: "duodenal somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "duodenal somatostatinoma" EXACT [NCIT:C27407]
xref: DOID:7479 {source="MONDO:equivalentTo"}
xref: MEDGEN:234205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27407 {source="DOID:7479", source="MONDO:equivalentTo"}
xref: UMLS:C1333320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234205"}
is_a: MONDO:0015063 {source="NCIT:C27407"} ! duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: excluded_subClassOf MONDO:0000920 {source="DOID:7479", source="https://orcid.org/0000-0001-5208-3432"} ! duodenum cancer

[Term]
id: MONDO:0004237
name: large cell carcinoma with rhabdoid phenotype
def: "A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells." [NCIT:P378]
synonym: "large cell carcinoma with rhabdoid phenotype (morphologic abnormality)" EXACT [DOID:7480]
synonym: "large cell lung carcinoma with rhabdoid phenotype" EXACT [DOID:7480, NCIT:C6876]
synonym: "RLCLC" RELATED ABBREVIATION [ONCOTREE:RLCLC]
xref: DOID:7480 {source="MONDO:equivalentTo"}
xref: ICDO:8014/3 {source="NCIT:C6876"}
xref: MEDGEN:226828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6876 {source="MONDO:equivalentTo", source="DOID:7480"}
xref: ONCOTREE:RLCLC {source="MONDO:equivalentTo"}
xref: SCTID:128629005 {source="DOID:7480"}
xref: UMLS:C1265997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226828"}
is_a: MONDO:0003050 {source="DOID:7480", source="NCIT:C6876", source="ONCOTREE:RLCLC"} ! lung large cell carcinoma

[Term]
id: MONDO:0004238
name: petrous apex meningioma
def: "A meningioma that affects the petrous apex." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "meningioma of petrous apex" EXACT [NCIT:C5271]
synonym: "meningioma of petrous ridge" EXACT [NCIT:C5271]
synonym: "meningioma of the petrous apex" EXACT [NCIT:C5271]
synonym: "meningioma of the petrous ridge" EXACT [DOID:7482, NCIT:C5271]
synonym: "petrous ridge meningioma" EXACT [NCIT:C5271]
xref: DOID:7482 {source="MONDO:equivalentTo"}
xref: MEDGEN:277512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5271 {source="MONDO:equivalentTo", source="DOID:7482"}
xref: UMLS:C1335396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277512"}
is_a: MONDO:0016642 {source="DOID:7482", source="NCIT:C5271/inferred"} ! meningioma

[Term]
id: MONDO:0004239
name: cervical keratinizing squamous cell carcinoma
def: "A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present." [NCIT:C40187]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical keratinizing squamous cell carcinoma" EXACT [NCIT:C40187]
xref: DOID:7483 {source="MONDO:equivalentTo"}
xref: MEDGEN:309255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40187 {source="MONDO:equivalentTo", source="DOID:7483", source="MONDO:exact-label-match"}
xref: UMLS:C1517658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309255"}
is_a: MONDO:0005056 {source="MONDO:Redundant", source="NCIT:C40187"} ! keratinizing squamous cell carcinoma
is_a: MONDO:0006143 {source="DOID:7483", source="MONDO:Redundant", source="NCIT:C40187"} ! cervical squamous cell carcinoma
intersection_of: MONDO:0005056 ! keratinizing squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0004240
name: posterior urethra cancer
def: "A malignant neoplasm that affects the portion of the urethra that is close to the bladder." [NCIT:P378]
synonym: "malignant neoplasm of posterior urethra" EXACT [NCIT:C7640]
synonym: "malignant neoplasm of the posterior urethra" EXACT [NCIT:C7640]
synonym: "malignant tumor of posterior urethra" EXACT [NCIT:C7640]
synonym: "malignant tumor of the posterior urethra" EXACT [NCIT:C7640]
synonym: "malignant tumour of posterior urethra" EXACT OMO:0003005 []
synonym: "malignant tumour of the posterior urethra" EXACT OMO:0003005 []
synonym: "posterior urethra malignant neoplasm" EXACT [NCIT:C7640]
synonym: "posterior urethra malignant tumor" EXACT [NCIT:C7640]
synonym: "posterior urethra malignant tumour" EXACT OMO:0003005 []
synonym: "posterior urethral cancer" EXACT [NCIT:C7640]
synonym: "posterior urethral malignant neoplasm" EXACT [NCIT:C7640]
synonym: "posterior urethral malignant tumor" EXACT [DOID:7488, NCIT:C7640]
synonym: "posterior urethral malignant tumour" EXACT OMO:0003005 []
xref: DOID:7488 {source="MONDO:equivalentTo"}
xref: MEDGEN:124676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7640 {source="DOID:7488", source="MONDO:equivalentTo"}
xref: UMLS:C0279931 {source="MEDGEN:124676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004192 {source="DOID:7488/inferred", source="MONDO:Redundant", source="NCIT:C7640"} ! urethra cancer
relationship: excluded_subClassOf MONDO:0004203 {source="DOID:7488", source="https://orcid.org/0000-0001-5208-3432"} ! female urethral cancer

[Term]
id: MONDO:0004241
name: Osgood-Schlatter disease
def: "Osteochondrosis of the growth plate near the tibial tuberosity." [NCIT:P378]
subset: gard_rare {source="GARD:19364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97335"}
subset: orphanet_rare {source="Orphanet:97335"}
subset: rare
synonym: "aseptic necrosis of the tibial tubercle" EXACT [Orphanet:97335]
synonym: "juvenile osteochondrosis of tibial tubercle" EXACT [DOID:7489]
synonym: "Osgood-Schlatter disease" EXACT [DOID:7489, MONDO:0019968]
synonym: "Osgood-Schlatter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "osteochondritis of the tibial tubercle" EXACT [Orphanet:97335]
synonym: "osteochondritis of tibial tubercle" EXACT [DOID:7489]
synonym: "Osteochondrosis of proximal tibia" EXACT [DOID:7489]
synonym: "Osteochondrosis of the tibial tubercle" EXACT [Orphanet:97335]
xref: DOID:7489 {source="MONDO:equivalentTo"}
xref: GARD:19364 {source="MONDO:GARD"}
xref: ICD10CM:M93.2 {source="Orphanet:97335", source="Orphanet:97335/ntbt"}
xref: ICD9:736.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10031130 {source="Orphanet:97335", source="Orphanet:97335/e"}
xref: MEDGEN:10489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055034 {source="DOID:7489"}
xref: NCIT:C34874 {source="DOID:7489", source="MONDO:equivalentTo"}
xref: Orphanet:97335 {source="MONDO:equivalentTo"}
xref: SCTID:156820001 {source="DOID:7489"}
xref: SCTID:268124001 {source="DOID:7489"}
xref: SCTID:430506003 {source="MONDO:equivalentTo"}
xref: SCTID:430642003 {source="DOID:7489"}
xref: SCTID:72047008 {source="DOID:7489", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:79353000 {source="DOID:7489", source="MONDO:relatedTo"}
xref: UMLS:C0029376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10489"}
is_a: MONDO:0002614 {source="DOID:7489"} ! bone inflammation disease
is_a: MONDO:0018381 {source="NCIT:C34874/inferred", source="Orphanet:97335"} ! osteochondrosis

[Term]
id: MONDO:0004242
name: active peptic ulcer disease
synonym: "GI bleeding" RELATED [DOID:749]
xref: DOID:749 {source="MONDO:equivalentTo"}
xref: ICD9:578.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D010438 {source="MONDO:relatedTo"}
xref: SCTID:64121000 {source="MONDO:relatedTo"}
xref: SCTID:74474003 {source="MONDO:relatedTo"}
is_a: MONDO:0004247 {source="DOID:749"} ! peptic ulcer disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7236" xsd:anyURI

[Term]
id: MONDO:0004243
name: vulvar proximal-type epithelioid sarcoma
def: "An epithelioid sarcoma of the proximal type involving the vulva." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:7491 {source="MONDO:equivalentTo"}
xref: MEDGEN:276995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40319 {source="MONDO:equivalentTo", source="DOID:7491"}
xref: UMLS:C1520093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276995"}
is_a: MONDO:0004244 {source="DOID:7491", source="NCIT:C40319"} ! proximal-type epithelioid sarcoma
is_a: MONDO:0005214 {source="DOID:7491", source="NCIT:C40319"} ! vulva sarcoma

[Term]
id: MONDO:0004244
name: proximal-type epithelioid sarcoma
def: "An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma." [NCIT:C27472]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central epithelioid sarcoma" EXACT [NCIT:C27472]
synonym: "proximal-type epithelioid sarcoma" EXACT [NCIT:C27472]
synonym: "PTES" RELATED ABBREVIATION [ONCOTREE:PTES]
xref: DOID:7492 {source="MONDO:equivalentTo"}
xref: MEDGEN:235511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27472 {source="MONDO:equivalentTo", source="DOID:7492"}
xref: ONCOTREE:PTES {source="MONDO:equivalentTo"}
xref: UMLS:C1335563 {source="MONDO:equivalentTo", source="MEDGEN:235511", source="MONDO:MEDGEN"}
is_a: MONDO:0017387 {source="DOID:7492", source="NCIT:C27472", source="ONCOTREE:PTES"} ! epithelioid sarcoma

[Term]
id: MONDO:0004245
name: ependymal tumor of brain
def: "A tumor arising from the ependymal lining of the ventricles." [NCIT:C3861]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain ependymal tumor" EXACT [MONDO:patterns/location]
synonym: "brain ependymal tumour" EXACT OMO:0003005 []
synonym: "brain ependymoma" RELATED [DOID:7497]
synonym: "ependymal tumor of brain" EXACT [DOID:7497, NCIT:C3861]
synonym: "ependymoma of brain" EXACT [DOID:7497]
xref: DOID:7497 {source="MONDO:equivalentTo"}
xref: MEDGEN:116038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3861 {source="MONDO:equivalentTo", source="DOID:7497"}
xref: SCTID:254939008 {source="MONDO:equivalentTo", source="DOID:7497"}
xref: UMLS:C0238029 {source="MEDGEN:116038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3861"} ! ependymal tumor
is_a: MONDO:0005499 {source="DOID:7497"} ! brain glioma
intersection_of: MONDO:0003266 ! ependymal tumor
intersection_of: disease_has_location UBERON:0000955 ! brain
relationship: disease_arises_from_structure UBERON:0004670 {source="NCIT:C3861"} ! ependyma
relationship: disease_has_location UBERON:0000955 {source="NCIT:C3861"} ! brain

[Term]
id: MONDO:0004246
name: obsolete lymphatic system disease
is_obsolete: true
replaced_by: MONDO:0005833

[Term]
id: MONDO:0004247
name: peptic ulcer disease
def: "A digestive system disease characterized by discontinuation in the inner lining of the gastrointestinal (GI) tract because of gastric acid secretion or pepsin." [https://www.ncbi.nlm.nih.gov/books/NBK534792/]
subset: otar {source="MONDO:OTAR"}
synonym: "acute peptic ulcer with haemorrhage" EXACT OMO:0003005 []
synonym: "acute peptic ulcer with haemorrhage and perforation" EXACT OMO:0003005 []
synonym: "acute peptic ulcer with hemorrhage" EXACT [DOID:750]
synonym: "acute peptic ulcer with hemorrhage and perforation" EXACT [DOID:750]
synonym: "acute peptic ulcer without haemorrhage and without perforation" EXACT OMO:0003005 []
synonym: "acute peptic ulcer without hemorrhage and without perforation" EXACT [DOID:750]
synonym: "peptic ulcer" EXACT [NCIT:C3318]
xref: DOID:750 {source="MONDO:equivalentTo"}
xref: ICD10CM:K27 {source="DOID:750"}
xref: ICD9:533 {source="DOID:750"}
xref: MEDGEN:45384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010437 {source="MONDO:equivalentTo", source="DOID:750"}
xref: NCIT:C3318 {source="MONDO:equivalentTo", source="DOID:750"}
xref: SCTID:13200003 {source="MONDO:equivalentTo", source="DOID:750"}
xref: SCTID:155701001 {source="DOID:750"}
xref: SCTID:155710009 {source="DOID:750"}
xref: SCTID:196681007 {source="DOID:750"}
xref: SCTID:196697002 {source="DOID:750"}
xref: SCTID:196704007 {source="DOID:750"}
xref: SCTID:196705008 {source="DOID:750"}
xref: SCTID:266437002 {source="DOID:750"}
xref: SCTID:266501005 {source="DOID:750"}
xref: UMLS:C0030920 {source="MEDGEN:45384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="DOID:750", source="MESH:D010437/inferred", source="NCIT:C3318/inferred"} ! digestive system disorder
is_a: MONDO:0043839 {source="https://orcid.org/0000-0001-5208-3432"} ! ulcer disease

[Term]
id: MONDO:0004248
name: pediatric infratentorial ependymoma
def: "An ependymoma that arises from the infratentorial region of the brain and occurs during childhood." [NCIT:C9041]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood infratentorial ependymoma" EXACT [NCIT:C9041]
synonym: "infratentorial ependymoma" EXACT [NCIT:C9041]
synonym: "pediatric infratentorial ependymoma" EXACT [NCIT:C9041]
xref: DOID:7501 {source="MONDO:equivalentTo"}
xref: MEDGEN:82949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9041 {source="DOID:7501", source="MONDO:equivalentTo"}
xref: UMLS:C0278599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82949"}
is_a: MONDO:0002915 {source="NCIT:C9041"} ! childhood infratentorial neoplasm
is_a: MONDO:0020685 {source="NCIT:C9041"} ! infratentorial ependymal tumor
intersection_of: MONDO:0020685 ! infratentorial ependymal tumor
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0003107 {source="DOID:7501", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! infratentorial cancer

[Term]
id: MONDO:0004249
name: pediatric supratentorial ependymoma
def: "An ependymoma that arises from the supratentorial region of the brain and occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood supratentorial ependymoma" EXACT [NCIT:C9043]
synonym: "paediatric cerebral ependymoma" EXACT OMO:0003005 []
synonym: "paediatric supratentorial ependymoblastoma" EXACT OMO:0003005 []
synonym: "pediatric cerebral ependymoma" EXACT [DOID:7502, NCIT:C6268]
synonym: "pediatric supratentorial ependymoblastoma" EXACT [DOID:7502, NCIT:C6772]
synonym: "supratentorial ependymoma" BROAD [NCIT:C9043]
xref: DOID:7502 {source="MONDO:equivalentTo"}
xref: EFO:0008495 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:78854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6268 {source="DOID:7502"}
xref: NCIT:C6772 {source="DOID:7502"}
xref: NCIT:C9043 {source="DOID:7502", source="MONDO:equivalentTo"}
xref: UMLS:C0278650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78854"}
is_a: MONDO:0003478 {source="NCIT:C9043"} ! childhood ependymoma
is_a: MONDO:0020687 {source="NCIT:C9043"} ! supratentorial ependymal tumor
intersection_of: MONDO:0020687 ! supratentorial ependymal tumor
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0002071 {source="DOID:7502", source="https://orcid.org/0000-0001-5208-3432"} ! supratentorial cancer

[Term]
id: MONDO:0004250
name: extrahepatic bile duct papillary adenoma
def: "An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern." [NCIT:C5849]
synonym: "extrahepatic bile duct papillary adenoma" EXACT [MONDO:patterns/location, NCIT:C5849]
synonym: "papillary adenoma of extrahepatic bile duct" EXACT [NCIT:C5849]
synonym: "papillary adenoma of the extrahepatic bile duct" EXACT [DOID:7503, NCIT:C5849]
xref: DOID:7503 {source="MONDO:equivalentTo"}
xref: MEDGEN:232483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5849 {source="DOID:7503", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333510 {source="MEDGEN:232483", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002533 {source="DOID:7503", source="MONDO:Redundant", source="NCIT:C5849"} ! papillary adenoma
is_a: MONDO:0003445 {source="DOID:7503", source="MONDO:Redundant", source="NCIT:C5849"} ! extrahepatic bile duct adenoma
is_a: MONDO:0003455 {source="DOID:7503", source="MONDO:Entailed", source="MONDO:Redundant"} ! bile duct papillary neoplasm
intersection_of: MONDO:0002533 ! papillary adenoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0004251
name: small intestine neoplasm
def: "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of small bowel" EXACT [NCIT:C4432]
synonym: "neoplasm of small intestine" EXACT [MONDO:patterns/neoplasm, NCIT:C4432]
synonym: "neoplasm of the small bowel" EXACT [NCIT:C4432]
synonym: "neoplasm of the small intestine" EXACT [NCIT:C4432]
synonym: "small bowel neoplasm" EXACT [NCIT:C4432]
synonym: "small bowel tumor" EXACT [NCIT:C4432]
synonym: "small bowel tumour" EXACT OMO:0003005 []
synonym: "small intestinal neoplasm" EXACT [DOID:7505, NCIT:C4432]
synonym: "small intestine neoplasm" EXACT [NCIT:C4432]
synonym: "small intestine neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "small intestine tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4432]
synonym: "small intestine tumour" EXACT OMO:0003005 []
synonym: "tumor of small bowel" EXACT [NCIT:C4432]
synonym: "tumor of small intestine" EXACT [MONDO:patterns/neoplasm, NCIT:C4432]
synonym: "tumor of the small bowel" EXACT [NCIT:C4432]
synonym: "tumor of the small intestine" EXACT [NCIT:C4432]
synonym: "tumour of small bowel" EXACT OMO:0003005 []
synonym: "tumour of small intestine" EXACT OMO:0003005 []
synonym: "tumour of the small bowel" EXACT OMO:0003005 []
synonym: "tumour of the small intestine" EXACT OMO:0003005 []
xref: DOID:7505 {source="MONDO:equivalentTo"}
xref: MEDGEN:91055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4432 {source="MONDO:equivalentTo", source="DOID:7505"}
xref: SCTID:126832004 {source="MONDO:equivalentTo", source="DOID:7505"}
xref: UMLS:C0345832 {source="MEDGEN:91055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021118 {source="DOID:7505", source="MONDO:Redundant", source="NCIT:C4432"} ! intestinal neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0004252
name: small intestinal L-cell glucagon-like peptide producing tumor
def: "A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27452]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine" EXACT [MONDO:design_pattern]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumour of small intestine" EXACT OMO:0003005 []
synonym: "small intestinal L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27452]
synonym: "small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27452]
synonym: "small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27452]
synonym: "small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "small intestine L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:7506 {source="MONDO:equivalentTo"}
xref: MEDGEN:475776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27452 {source="DOID:7506", source="MONDO:equivalentTo"}
xref: UMLS:C3274143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:475776"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C27452"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0004211 {source="MONDO:Redundant", source="NCIT:C27452"} ! L-cell glucagon-like peptide-producing neuroendocrine tumor
intersection_of: MONDO:0004211 ! L-cell glucagon-like peptide-producing neuroendocrine tumor
intersection_of: disease_has_location UBERON:0002108 ! small intestine
relationship: excluded_subClassOf MONDO:0000956 {source="DOID:7506", source="https://orcid.org/0000-0001-5208-3432"} ! small intestine cancer

[Term]
id: MONDO:0004253
name: intraductal breast papillomatosis
def: "A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts." [NCIT:C5201]
synonym: "breast intraductal papillomatosis" RELATED [DOID:7511]
synonym: "intraductal breast papillomatosis" EXACT [NCIT:C5201]
synonym: "intraductal papillomatosis of breast" EXACT [NCIT:C5201]
synonym: "intraductal papillomatosis of the breast" EXACT [DOID:7511, NCIT:C5201]
xref: DOID:7511 {source="MONDO:equivalentTo"}
xref: MEDGEN:235224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5201 {source="DOID:7511", source="MONDO:equivalentTo"}
xref: UMLS:C1334247 {source="MEDGEN:235224", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021099 {source="MONDO:Redundant", source="NCIT:C5201"} ! intraductal papillomatosis

[Term]
id: MONDO:0004254
name: focal intraductal papillomatosis
synonym: "focal intraductal papillomatosis" EXACT [NCIT:C7365]
synonym: "localised intraductal papillomatosis" RELATED OMO:0003005 []
synonym: "localized intraductal papillomatosis" RELATED [NCIT:C7365]
xref: DOID:7512 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:272635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7365 {source="NCIT:C7365", source="DOID:7512", source="MONDO:equivalentTo"}
xref: UMLS:C1333626 {source="MEDGEN:272635", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021098 {source="https://orcid.org/0000-0002-6601-2165"} ! papillomatosis

[Term]
id: MONDO:0004255
name: Wolffian adnexal tumor
def: "A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass." [NCIT:C40141]
subset: otar {source="MONDO:OTAR"}
synonym: "FATWO" RELATED ABBREVIATION [GARD:0008680]
synonym: "female adnexal tumor of probable Wolffian origin" RELATED [GARD:0008680]
synonym: "female adnexal tumour of probable Wolffian origin" RELATED OMO:0003005 []
synonym: "WAT" RELATED ABBREVIATION [GARD:0008680]
synonym: "Wolffian adenoma" RELATED [GARD:0008680]
synonym: "Wolffian adnexal neoplasm" EXACT [NCIT:C40141]
synonym: "Wolffian adnexal tumor" EXACT [NCIT:C40141]
synonym: "Wolffian tumor" RELATED [GARD:0008680]
synonym: "Wolffian tumour" RELATED OMO:0003005 []
xref: DOID:7514 {source="MONDO:equivalentTo"}
xref: MEDGEN:275635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536741 {source="DOID:7514", source="MONDO:equivalentTo"}
xref: NCIT:C40141 {source="DOID:7514", source="MONDO:equivalentTo"}
xref: UMLS:C1520159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275635"}
is_a: MONDO:0005626 {source="MESH:C536741/inferred", source="MONDO:Redundant", source="NCIT:C40141"} ! epithelial neoplasm
is_a: MONDO:0021629 {source="NCIT:C40141"} ! uterine ligament neoplasm
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: disease_arises_from_structure UBERON:0003074 ! mesonephric duct
relationship: excluded_subClassOf MONDO:0003612 {source="DOID:7514", source="https://orcid.org/0000-0001-5208-3432"} ! uterine ligament cancer

[Term]
id: MONDO:0004256
name: lumbar spinal canal and spinal cord meningioma
def: "A meningioma that arises from the meninges of the lumbar region of the spinal cord." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lumbar intraspinal meningioma" EXACT [NCIT:C5298]
synonym: "meningioma of lumbar spinal canal and spinal cord" EXACT [DOID:7515, NCIT:C5298]
synonym: "meningioma of the lumbar spinal canal and spinal cord" EXACT [NCIT:C5298]
xref: DOID:7515 {source="MONDO:equivalentTo"}
xref: MEDGEN:232707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5298 {source="DOID:7515", source="MONDO:equivalentTo"}
xref: UMLS:C1334436 {source="MEDGEN:232707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001279 {source="DOID:7515", source="NCIT:C5298"} ! intraspinal meningioma

[Term]
id: MONDO:0004257
name: childhood central nervous system mixed germ cell tumor
def: "A mixed germ cell tumor that arises from the central nervous system and occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Central nervous system Mixed germ cell tumor" EXACT [NCIT:C27403]
synonym: "Central nervous system Mixed germ cell tumour" EXACT OMO:0003005 []
synonym: "childhood mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern]
synonym: "childhood mixed germ cell tumour of central nervous system" EXACT OMO:0003005 []
synonym: "mixed germ cell tumor of central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "mixed germ cell tumour of central nervous system of childhood" EXACT OMO:0003005 []
synonym: "paediatric mixed germ cell tumour of central nervous system" EXACT OMO:0003005 []
synonym: "pediatric mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:7516 {source="MONDO:equivalentTo"}
xref: MEDGEN:232346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27403 {source="MONDO:equivalentTo", source="DOID:7516"}
xref: UMLS:C1332956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232346"}
is_a: MONDO:0003750 {source="DOID:7516", source="MONDO:Redundant", source="NCIT:C27403"} ! childhood central nervous system germ cell tumor
intersection_of: MONDO:0016742 ! mixed germ cell tumor of central nervous system
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004258
name: female orgasmic disorder
def: "A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse." [NCIT:C34958]
synonym: "female orgasmic disorder" EXACT [DOID:7518, NCIT:C34958]
synonym: "inhibited female orgasm" RELATED [DOID:7518]
xref: DOID:7518 {source="MONDO:equivalentTo"}
xref: ICD10CM:F52.31 {source="MONDO:equivalentTo", source="DOID:7518"}
xref: ICD9:302.73 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:7518"}
xref: MEDGEN:892329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34958 {source="MONDO:equivalentTo", source="DOID:7518"}
xref: SCTID:191794003 {source="DOID:7518"}
xref: SCTID:60103007 {source="MONDO:equivalentTo", source="DOID:7518"}
xref: UMLS:C4022677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:892329"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts MF:0000061 ! orgasm
intersection_of: disease_has_location UBERON:0003100 ! female organism
relationship: disease_disrupts MF:0000061 ! orgasm
relationship: excluded_subClassOf MONDO:0002263 {source="DOID:7518", source="NCIT:C34958/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! female reproductive system disorder

[Term]
id: MONDO:0004259
name: endocervical carcinoma
def: "A carcinoma that arises from epithelial cells of the endocervix." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of endocervix" EXACT [DOID:7519, MONDO:patterns/carcinoma, NCIT:C28327]
synonym: "carcinoma of the endocervix" EXACT [DOID:7519, NCIT:C28327]
synonym: "endocervical adenocarcinoma" NARROW [NCIT:C28327]
synonym: "endocervical cancer" EXACT [NCIT:C28327]
synonym: "endocervical carcinoma" EXACT [NCIT:C28327]
synonym: "endocervix carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7519 {source="MONDO:equivalentTo"}
xref: MEDGEN:226966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C28327 {source="MONDO:equivalentObsolete", source="DOID:7519"}
xref: SCTID:372098004 {source="MONDO:equivalentTo", source="DOID:7519"}
xref: UMLS:C1299237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226966"}
is_a: MONDO:0005131 {source="DOID:7519", source="MONDO:Redundant", source="NCIT:C28327"} ! cervical carcinoma
is_a: MONDO:0021309 {source="MONDO:Redundant"} ! malignant neoplasm of endocervix
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000458 ! endocervix

[Term]
id: MONDO:0004260
name: peptic ulcer perforation
def: "Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity." [MESH:D010439]
subset: otar {source="MONDO:OTAR"}
synonym: "acute peptic ulcer with perforation" EXACT [DOID:752]
synonym: "peptic ulcer with perforation" EXACT [DOID:752]
synonym: "perforated peptic ulcer" EXACT [DOID:752]
xref: DOID:752 {source="MONDO:equivalentTo"}
xref: EFO:1001389 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:45385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010439 {source="MONDO:equivalentTo", source="DOID:752"}
xref: SCTID:155703003 {source="DOID:752"}
xref: SCTID:196700003 {source="DOID:752"}
xref: SCTID:266502003 {source="DOID:752"}
xref: SCTID:79118000 {source="MONDO:equivalentTo"}
xref: SCTID:88169003 {source="DOID:752"}
xref: UMLS:C0030925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45385"}
is_a: MONDO:0004247 {source="DOID:752", source="MESH:D010439"} ! peptic ulcer disease

[Term]
id: MONDO:0004261
name: periductal breast myoepitheliosis
def: "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts." [NCIT:C40388]
synonym: "periductal breast myoepitheliosis" EXACT [NCIT:C40388]
xref: DOID:7520 {source="MONDO:equivalentTo"}
xref: MEDGEN:274144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40388 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7520"}
xref: UMLS:C1518974 {source="MEDGEN:274144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004262 {source="DOID:7520", source="NCIT:C40388"} ! breast myoepitheliosis

[Term]
id: MONDO:0004262
name: breast myoepitheliosis
def: "A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts." [NCIT:C40385]
synonym: "breast myoepitheliosis" EXACT [NCIT:C40385]
xref: DOID:7521 {source="MONDO:equivalentTo"}
xref: MEDGEN:269362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40385 {source="DOID:7521", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1513799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:269362"}
is_a: MONDO:0002483 {source="DOID:7521", source="NCIT:C40385"} ! breast myoepithelial tumor

[Term]
id: MONDO:0004263
name: pediatric infratentorial ependymoblastoma
def: "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6773]
synonym: "childhood infratentorial embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 []
synonym: "childhood infratentorial ependymoblastoma" EXACT [NCIT:C6773]
synonym: "pediatric infratentorial ependymoblastoma" EXACT [NCIT:C6773]
xref: DOID:7522 {source="MONDO:equivalentTo"}
xref: MEDGEN:272462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6773 {source="DOID:7522", source="MONDO:equivalentTo"}
xref: UMLS:C1332972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272462"}
is_a: MONDO:0002915 {source="DOID:7522", source="NCIT:C6773"} ! childhood infratentorial neoplasm
is_a: MONDO:0003107 {source="DOID:7522/inferred", source="MONDO:Redundant", source="NCIT:C6773"} ! infratentorial cancer
is_a: MONDO:0016715 {source="DOID:7522", source="NCIT:C6773/inferred"} ! ependymoblastoma
intersection_of: MONDO:0002915 ! childhood infratentorial neoplasm
intersection_of: MONDO:0016715 ! ependymoblastoma

[Term]
id: MONDO:0004264
name: acute gonococcal endometritis
synonym: "acute gonorrhea of uterus" EXACT [DOID:7527]
synonym: "acute gonorrhoea of uterus" EXACT OMO:0003005 []
synonym: "gonococcal endometritis" EXACT [DOID:7527]
synonym: "gonococcal endometritis (acute)" EXACT [DOID:7527, ICD9CM:098.16]
synonym: "uterus - acute gonorrhea" EXACT [DOID:7527]
synonym: "uterus - acute gonorrhoea" EXACT OMO:0003005 []
xref: DOID:7527 {source="MONDO:equivalentTo"}
xref: ICD9:098.16 {source="MONDO:equivalentTo", source="DOID:7527", source="MONDO:i2s"}
xref: MEDGEN:509198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186913003 {source="DOID:7527"}
xref: SCTID:65295003 {source="MONDO:equivalentTo", source="DOID:7527"}
xref: UMLS:C0153196 {source="MEDGEN:509198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004265 {source="DOID:7527"} ! acute endometritis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004265
name: acute endometritis
def: "An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge." [NCIT:P378]
synonym: "endometritis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:7528 {source="MONDO:equivalentTo"}
xref: ICD9:615.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:68654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27022 {source="DOID:7528", source="MONDO:equivalentTo"}
xref: SCTID:155976002 {source="DOID:7528"}
xref: SCTID:67667007 {source="DOID:7528", source="MONDO:equivalentTo"}
xref: UMLS:C0238103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68654"}
is_a: MONDO:0000918 {source="DOID:7528", source="MONDO:Redundant", source="NCIT:C27022"} ! endometritis
intersection_of: MONDO:0000918 ! endometritis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004266
name: anal gland adenocarcinoma
def: "An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes." [NCIT:P378]
synonym: "adenocarcinoma of anal ducts" EXACT [DOID:7531]
synonym: "adenocarcinoma of anal gland" RELATED [DOID:7531]
synonym: "adenocarcinoma of the anal gland" EXACT [NCIT:C5609]
synonym: "anal glands adenocarcinoma" EXACT [DOID:7531, NCIT:C5609]
xref: DOID:7531 {source="MONDO:equivalentTo"}
xref: ICDO:8215/3 {source="NCIT:C5609"}
xref: MEDGEN:220409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5609 {source="MONDO:equivalentTo", source="DOID:7531"}
xref: ONCOTREE:AGA {source="MONDO:equivalentTo"}
xref: SCTID:128655006 {source="DOID:7531"}
xref: UMLS:C1266027 {source="MEDGEN:220409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002652 {source="DOID:7531", source="NCIT:C5609/inferred"} ! anus adenocarcinoma

[Term]
id: MONDO:0004267
name: squamous papillomatosis
def: "A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site." [NCIT:C9009]
synonym: "squamous papillomatosis" EXACT [NCIT:C9009]
xref: DOID:7532 {source="MONDO:equivalentTo"}
xref: ICDO:8060/0 {source="NCIT:C9009"}
xref: MEDGEN:235130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9009 {source="DOID:7532", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:82049002 {source="DOID:7532"}
xref: UMLS:C1378340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235130"}
is_a: MONDO:0021098 {source="NCIT:C9009"} ! papillomatosis

[Term]
id: MONDO:0004268
name: obsolete subareolar duct papillomatosis
synonym: "subareolar duct papillomatosis" EXACT [DOID:7533, NCIT:C9008]
xref: DOID:7533 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C9008 {source="DOID:7533", source="MONDO:otherHierarchy"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4896" xsd:anyURI
is_obsolete: true
consider: MONDO:0021301

[Term]
id: MONDO:0004269
name: breast cystic hypersecretory carcinoma
synonym: "cystic hypersecretory carcinoma of the breast" RELATED [DOID:7537]
synonym: "cystic hypersecretory duct carcinoma of the breast" EXACT [DOID:7537, NCIT:C6869]
xref: DOID:7537 {source="MONDO:equivalentTo"}
is_a: MONDO:0003208 {source="DOID:7537"} ! breast secretory carcinoma

[Term]
id: MONDO:0004270
name: breast ductal adenoma
def: "A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor." [NCIT:C40384]
subset: otar {source="MONDO:OTAR"}
synonym: "breast ductal adenoma" EXACT [NCIT:C40384]
synonym: "ductal adenoma" EXACT [NCIT:C40384]
xref: DOID:7538 {source="MONDO:equivalentTo"}
xref: MEDGEN:307308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40384 {source="MONDO:equivalentTo", source="DOID:7538", source="MONDO:exact-label-match"}
xref: UMLS:C1511307 {source="MONDO:equivalentTo", source="MEDGEN:307308", source="MONDO:MEDGEN"}
is_a: MONDO:0002058 {source="DOID:7538", source="NCIT:C40384"} ! breast adenoma

[Term]
id: MONDO:0004271
name: pregnancy adenoma
def: "A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes." [NCIT:P378]
synonym: "Lactating adenoma" EXACT [NCIT:C9473]
synonym: "Lactating adenoma (morphologic abnormality)" EXACT [DOID:7539]
xref: DOID:7539 {source="MONDO:equivalentTo"}
xref: ICDO:8204/0 {source="NCIT:C9473"}
xref: MEDGEN:226830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9473 {source="DOID:7539", source="MONDO:equivalentTo"}
xref: SCTID:128651002 {source="DOID:7539"}
xref: UMLS:C1266023 {source="MEDGEN:226830", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002058 {source="DOID:7539", source="NCIT:C9473/inferred"} ! breast adenoma

[Term]
id: MONDO:0004272
name: urinary bladder tuberculosis
def: "A tuberculosis that involves the urinary bladder." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bladder tuberculosis" RELATED [DOID:754]
synonym: "bladder tuberculous" EXACT [DOID:754]
synonym: "tuberculosis of bladder" EXACT [DOID:754]
synonym: "tuberculosis of bladder, unspecified examination" EXACT [DOID:754, ICD9CM:016.10]
synonym: "tuberculous cystitis" EXACT [DOID:754]
synonym: "urinary bladder tuberculosis" EXACT [MONDO:patterns/location]
xref: DOID:754 {source="MONDO:equivalentTo"}
xref: ICD10CM:A18.12 {source="DOID:754"}
xref: ICD9:016.1 {source="DOID:754"}
xref: ICD9:016.10 {source="DOID:754", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:016.14 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186237005 {source="DOID:754"}
xref: SCTID:32268008 {source="DOID:754", source="MONDO:equivalentTo"}
xref: UMLS:C0152793 {source="MEDGEN:509075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006002 {source="DOID:754", source="MONDO:Redundant"} ! urogenital tuberculosis
is_a: MONDO:0006026 {source="DOID:754", source="MONDO:Redundant"} ! urinary bladder disorder
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0004273
name: breast apocrine adenoma
def: "A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia." [NCIT:C40383]
synonym: "apocrine adenoma of breast" EXACT [MONDO:design_pattern]
synonym: "breast apocrine adenoma" EXACT [MONDO:patterns/location, NCIT:C40383]
xref: DOID:7540 {source="MONDO:equivalentTo"}
xref: MEDGEN:235590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40383 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7540"}
xref: UMLS:C1388299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235590"}
is_a: MONDO:0002058 {source="DOID:7540", source="NCIT:C40383"} ! breast adenoma
is_a: MONDO:0002804 {source="DOID:7540", source="MONDO:Entailed", source="MONDO:Redundant"} ! apocrine adenoma
intersection_of: MONDO:0002804 ! apocrine adenoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0004274
name: mixed epithelial/mesenchymal metaplastic breast carcinoma
def: "An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast carcinosarcoma" EXACT [NCIT:C40364]
synonym: "mixed type metaplastic breast cancer" RELATED [ONCOTREE:MMBC]
xref: DOID:7541 {source="MONDO:equivalentTo"}
xref: MEDGEN:307769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40364 {source="MONDO:equivalentTo", source="DOID:7541"}
xref: ONCOTREE:MMBC {source="MONDO:equivalentTo"}
xref: UMLS:C1513365 {source="MEDGEN:307769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006043 {source="DOID:7541", source="NCIT:C40364", source="ONCOTREE:MMBC"} ! metaplastic breast carcinoma

[Term]
id: MONDO:0004275
name: osteosarcoma arising in bone Paget disease
def: "A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis." [NCIT:C6469]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "osteosarcoma arising in bone Paget disease" EXACT [DOID:7542]
synonym: "osteosarcoma arising in bone Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C6469]
synonym: "osteosarcoma arising in osseous Paget's disease" EXACT [DOID:7542, NCIT:C6469]
synonym: "osteosarcoma arising in osteitis deformans" EXACT [NCIT:C6469]
synonym: "osteosarcoma arising in Paget disease of bone" EXACT [NCIT:C6469]
synonym: "osteosarcoma arising in Paget's disease of bone" EXACT [NCIT:C6469]
synonym: "Paget osteosarcoma" EXACT [NCIT:C6469]
synonym: "Paget's osteosarcoma" EXACT [NCIT:C6469]
xref: DOID:7542 {source="MONDO:equivalentTo"}
xref: ICDO:9184/3 {source="NCIT:C6469"}
xref: MEDGEN:569679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6469 {source="MONDO:equivalentTo", source="DOID:7542"}
xref: UMLS:C0334546 {source="MEDGEN:569679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002629 {source="DOID:7542", source="NCIT:C6469/inferred"} ! bone osteosarcoma
is_a: MONDO:0021165 {source="https://orcid.org/0000-0001-5208-3432"} ! Paget disease

[Term]
id: MONDO:0004276
name: ceruminoma
def: "A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm." [NCIT:C6088]
synonym: "adenoma, ceruminous gland, benign" EXACT [NCIT:C6088]
synonym: "ceruminous adenoma" EXACT [NCIT:C6088]
synonym: "ceruminous adenoma (morphologic abnormality)" EXACT [DOID:7549]
synonym: "ceruminous adenoma of external auditory canal" EXACT [NCIT:C6088]
synonym: "ceruminous adenoma of the external auditory canal" EXACT [NCIT:C6088]
synonym: "external auditory canal ceruminous adenoma" EXACT [NCIT:C6088]
xref: DOID:7549 {source="MONDO:equivalentTo"}
xref: ICDO:8420/0 {source="NCIT:C6088"}
xref: MEDGEN:569651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6088 {source="MONDO:equivalentTo"}
xref: SCTID:403945001 {source="MONDO:equivalentTo", source="DOID:7549"}
xref: SCTID:52707009 {source="DOID:7549"}
xref: UMLS:C0334352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:569651"}
is_a: MONDO:0002804 {source="NCIT:C6088"} ! apocrine adenoma
is_a: MONDO:0003686 {source="DOID:7549", source="MONDO:Redundant", source="NCIT:C6088/inferred"} ! apocrine sweat gland neoplasm

[Term]
id: MONDO:0004277
name: gonorrhea
def: "A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease." [NCIT:P378]
synonym: "acrodermatitis, infantile lichenoid" RELATED [GARD:0006499]
synonym: "acrodermatitis, papular infantile" RELATED [GARD:0006499]
synonym: "chronic gonococcal infectious disease of lower genitourinary tract" EXACT [DOID:7551]
synonym: "chronic gonococcal infectious disease of upper genitourinary tract" EXACT [DOID:7551]
synonym: "Crosti-gianotti syndrome" RELATED [GARD:0006499]
synonym: "GC" EXACT ABBREVIATION [NCIT:C92950]
synonym: "Gianotti Crosti syndrome" RELATED [GARD:0006499]
synonym: "infections, Neisseria gonorrhoeae" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "PAC" RELATED ABBREVIATION [GARD:0006499]
synonym: "papular acrodermatitis of childhood" RELATED [GARD:0006499]
synonym: "PAS" RELATED ABBREVIATION [GARD:0006499]
xref: DOID:7551 {source="MONDO:equivalentTo"}
xref: ICD10CM:A54 {source="DOID:7551"}
xref: ICD10CM:A54.9 {source="DOID:7551"}
xref: ICD9:098 {source="DOID:7551"}
xref: ICD9:098.2 {source="DOID:7551"}
xref: ICD9:098.32 {source="DOID:7551"}
xref: ICD9:098.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006069 {source="MONDO:equivalentTo", source="DOID:7551"}
xref: NCIT:C35730 {source="DOID:7551"}
xref: NCIT:C92950 {source="MONDO:equivalentTo", source="DOID:7551"}
xref: Orphanet:100642 {source="MONDO:equivalentObsolete"}
xref: SCTID:154387008 {source="DOID:7551"}
xref: SCTID:15628003 {source="MONDO:equivalentTo", source="DOID:7551"}
xref: SCTID:186943001 {source="DOID:7551"}
xref: SCTID:187361005 {source="DOID:7551"}
xref: SCTID:266142004 {source="DOID:7551"}
xref: SCTID:60893000 {source="DOID:7551"}
xref: UMLS:C0018081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9077"}
is_a: MONDO:0000314 {source="DOID:7551"} ! primary bacterial infectious disease
is_a: MONDO:0005323 {source="MESH:D006069"} ! bacterial sexually transmitted disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
relationship: disease_has_infectious_agent NCBITaxon:485 {source="MONDO:Wikidata"} ! Neisseria gonorrhoeae

[Term]
id: MONDO:0004278
name: infiltrating bladder urothelial carcinoma sarcomatoid variant
def: "An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features." [NCIT:C39824]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infiltrating bladder urothelial carcinoma sarcomatoid variant" EXACT [MONDO:0006253, NCIT:C39824]
synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements" NARROW [DOID:7553]
synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements" NARROW [DOID:7553]
synonym: "sarcomatoid carcinoma of the urinary bladder" BROAD [ONCOTREE:SCB]
xref: DOID:7553 {source="MONDO:equivalentTo"}
xref: EFO:1000303 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:268929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39824 {source="MONDO:equivalentTo", source="EFO:1000303", source="DOID:7553"}
xref: ONCOTREE:SCB {source="MONDO:equivalentTo"}
xref: UMLS:C1512743 {source="MEDGEN:268929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002837 {source="NCIT:C39824"} ! sarcomatoid transitional cell carcinoma
is_a: MONDO:0003890 {source="DOID:7553", source="NCIT:C39824"} ! infiltrating bladder urothelial carcinoma
intersection_of: MONDO:0002837 ! sarcomatoid transitional cell carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0004279
name: glossopharyngeal motor neuropathy
def: "Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)" [MESH:D020435]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glossopharyngeal nerve motor peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "motor peripheral neuropathy of glossopharyngeal nerve" EXACT [MONDO:design_pattern]
xref: DOID:7558 {source="MONDO:equivalentTo"}
xref: MEDGEN:155662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020435 {source="DOID:7558"}
xref: NCIT:C27212 {source="DOID:7558", source="MONDO:equivalentTo"}
xref: UMLS:C0751942 {source="MONDO:equivalentTo", source="MEDGEN:155662", source="MONDO:MEDGEN"}
is_a: MONDO:0002316 {source="MONDO:Redundant", source="NCIT:C27212"} ! motor peripheral neuropathy
intersection_of: MONDO:0002316 ! motor peripheral neuropathy
intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve
relationship: excluded_subClassOf MONDO:0004004 {source="DOID:7558", source="https://orcid.org/0000-0001-5208-3432"} ! motor nerve neuritis

[Term]
id: MONDO:0004280
name: asymmetric motor neuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7559 {source="MONDO:equivalentTo"}
xref: MEDGEN:231082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27953 {source="DOID:7559", source="MONDO:equivalentTo"}
xref: UMLS:C1332341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231082"}
is_a: MONDO:0002316 {source="MONDO:Redundant", source="NCIT:C27953"} ! motor peripheral neuropathy
is_a: MONDO:0004004 {source="DOID:7559"} ! motor nerve neuritis

[Term]
id: MONDO:0004281
name: vulvar eccrine porocarcinoma
def: "An eccrine porocarcinoma that arises from the sweat glands in the vulva." [NCIT:C40306]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "eccrine porocarcinoma of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva eccrine porocarcinoma" EXACT [MONDO:patterns/location]
synonym: "vulvar eccrine porocarcinoma" EXACT [NCIT:C40306]
xref: DOID:7565 {source="MONDO:equivalentTo"}
xref: MEDGEN:275616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40306 {source="DOID:7565", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1520081 {source="MEDGEN:275616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003861 {source="MONDO:Redundant", source="NCIT:C40306"} ! vulvar eccrine adenocarcinoma
is_a: MONDO:0005215 {source="DOID:7565", source="MONDO:Redundant", source="NCIT:C40306/inferred"} ! vulvar carcinoma
is_a: MONDO:0006189 {source="MONDO:Redundant", source="NCIT:C40306"} ! eccrine porocarcinoma
intersection_of: MONDO:0006189 ! eccrine porocarcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0004282
name: obsolete eccrine porocarcinoma
is_obsolete: true
replaced_by: MONDO:0006189

[Term]
id: MONDO:0004283
name: vulvar clear cell hidradenocarcinoma
def: "A vulvar sweat gland carcinoma characterized by the presence of clear cells." [NCIT:C40307]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "vulvar clear cell hidradenocarcinoma" EXACT [NCIT:C40307]
xref: DOID:7567 {source="MONDO:equivalentTo"}
xref: MEDGEN:275614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40307 {source="DOID:7567", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1520076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275614"}
is_a: MONDO:0006245 {source="NCIT:C40307"} ! hidradenocarcinoma
relationship: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0004284
name: obsolete malignant cystic nephroma
comment: obsoleted as cystic neprhomas are benign
xref: DOID:7571 {source="MONDO:relatedTo"}
is_obsolete: true

[Term]
id: MONDO:0004285
name: pancreatic intraductal papillary-mucinous carcinoma
def: "A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations." [NCIT:C5725]
subset: gard_rare {source="GARD:21779", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424058"}
subset: orphanet_rare {source="Orphanet:424058"}
subset: rare
synonym: "intraductal papillary mucinous carcinoma of pancreas" EXACT [MONDO:0018524]
synonym: "intraductal papillary-colloid carcinoma of pancreas" RELATED [NCIT:C5725]
synonym: "intraductal papillary-colloid carcinoma of the pancreas" RELATED [NCIT:C5725]
synonym: "intraductal papillary-colloidal carcinoma of pancreas" RELATED [NCIT:C5725]
synonym: "intraductal papillary-colloidal carcinoma of the pancreas" RELATED [NCIT:C5725]
synonym: "intraductal papillary-mucinous carcinoma of pancreas" EXACT [DOID:7574, NCIT:C5725]
synonym: "intraductal papillary-mucinous carcinoma of the pancreas" RELATED [NCIT:C5725]
synonym: "pancreatic intraductal papillary mucinous carcinoma" EXACT [Orphanet:424058]
synonym: "pancreatic intraductal papillary-colloid carcinoma" RELATED [NCIT:C5725]
synonym: "pancreatic intraductal papillary-colloidal carcinoma" RELATED [NCIT:C5725]
synonym: "pancreatic intraductal papillary-mucinous carcinoma" EXACT [NCIT:C5725]
xref: DOID:7574 {source="MONDO:equivalentTo"}
xref: GARD:21779 {source="MONDO:GARD"}
xref: ICD10CM:C25.3 {source="Orphanet:424058/ntbt", source="Orphanet:424058"}
xref: MEDGEN:235451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5725 {source="MONDO:equivalentTo", source="NCIT:C5725", source="DOID:7574"}
xref: Orphanet:424058 {source="MONDO:equivalentTo"}
xref: UMLS:C1335304 {source="MEDGEN:235451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005192 {source="Orphanet:424058"} ! exocrine pancreatic carcinoma
relationship: disease_has_location UBERON:0000017 ! exocrine pancreas
relationship: excluded_subClassOf MONDO:0006047 {source="DOID:7574", source="https://orcid.org/0000-0001-5208-3432"} ! pancreatic adenocarcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare

[Term]
id: MONDO:0004286
name: pancreatic intraductal papillary-mucinous neoplasm
def: "A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus." [NCIT:C38342]
synonym: "intraductal papillary mucinous neoplasm" RELATED [ONCOTREE:IPMN]
synonym: "IPMN" EXACT ABBREVIATION [NCIT:C38342]
synonym: "pancreatic intraductal papillary-mucinous neoplasm" EXACT [NCIT:C38342]
synonym: "pancreatic intraductal papillary-mucinous tumor" EXACT [NCIT:C38342]
synonym: "pancreatic intraductal papillary-mucinous tumour" EXACT OMO:0003005 []
synonym: "pancreatic IPMN" EXACT [NCIT:C38342]
xref: DOID:7575 {source="MONDO:equivalentTo"}
xref: MEDGEN:1373306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38342 {source="NCIT:C38342", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7575"}
xref: ONCOTREE:IPMN {source="MONDO:equivalentTo"}
xref: UMLS:C4511687 {source="MEDGEN:1373306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002116 {source="DOID:7575"} ! malignant exocrine pancreas neoplasm

[Term]
id: MONDO:0004287
name: pancreatic foamy gland adenocarcinoma
def: "A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm." [NCIT:C37256]
synonym: "pancreatic foamy gland adenocarcinoma" EXACT [NCIT:C37256]
xref: DOID:7577 {source="MONDO:equivalentTo"}
xref: MEDGEN:235450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37256 {source="DOID:7577", source="NCIT:C37256", source="MONDO:equivalentTo"}
xref: UMLS:C1335303 {source="MEDGEN:235450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005184 {source="NCIT:C37256"} ! pancreatic ductal adenocarcinoma

[Term]
id: MONDO:0004288
name: scirrhous breast carcinoma
def: "An infiltrating ductal breast carcinoma associated with stromal fibrosis." [NCIT:C7362]
synonym: "breast scirrhous carcinoma" RELATED [DOID:7578]
synonym: "infiltrating carcinoma of breast with fibrotic Stroma" EXACT [DOID:7578, NCIT:C7362]
synonym: "infiltrating carcinoma of the breast with fibrotic Stroma" EXACT [NCIT:C7362]
synonym: "scirrhous breast carcinoma" EXACT [NCIT:C7362]
synonym: "scirrhous carcinoma of breast" EXACT [DOID:7578, NCIT:C7362]
synonym: "scirrhous carcinoma of the breast" EXACT [NCIT:C7362]
xref: DOID:7578 {source="MONDO:equivalentTo"}
xref: ICDO:8514/3 {source="NCIT:C7362"}
xref: MEDGEN:87541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7362 {source="DOID:7578", source="MONDO:equivalentTo"}
xref: SCTID:254839007 {source="DOID:7578", source="MONDO:equivalentTo"}
xref: UMLS:C0346151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87541"}
is_a: MONDO:0004953 {source="NCIT:C7362"} ! invasive ductal breast carcinoma
is_a: MONDO:0004989 {source="DOID:7578", source="MONDO:Redundant", source="NCIT:C7362/inferred"} ! breast carcinoma

[Term]
id: MONDO:0004289
name: glottis verrucous carcinoma
def: "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness." [NCIT:C8189]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glottic verrucous carcinoma" EXACT [DOID:7583, NCIT:C8189]
synonym: "glottis verrucous carcinoma" EXACT [MONDO:patterns/location, NCIT:C8189]
synonym: "verrucous carcinoma of glottis" EXACT [DOID:7583, NCIT:C8189]
synonym: "verrucous carcinoma of the glottis" EXACT [NCIT:C8189]
xref: DOID:7583 {source="MONDO:equivalentTo"}
xref: MEDGEN:83631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8189 {source="MONDO:equivalentTo", source="DOID:7583"}
xref: UMLS:C0280329 {source="MEDGEN:83631", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002766 {source="DOID:7583", source="MONDO:Redundant", source="NCIT:C8189"} ! larynx verrucous carcinoma
is_a: MONDO:0004080 {source="DOID:7583", source="MONDO:Redundant", source="NCIT:C8189"} ! glottis squamous cell carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0002486 ! glottis

[Term]
id: MONDO:0004290
name: subglottis verrucous carcinoma
def: "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "subglottic verrucous carcinoma" EXACT [NCIT:C8190]
synonym: "subglottis verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "verrucous carcinoma of subglottis" EXACT [DOID:7584, NCIT:C8190]
synonym: "verrucous carcinoma of the subglottis" RELATED [DOID:7584]
xref: DOID:7584 {source="MONDO:equivalentTo"}
xref: MEDGEN:124721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8190 {source="MONDO:equivalentTo", source="DOID:7584"}
xref: UMLS:C0280330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124721"}
is_a: MONDO:0004291 {source="DOID:7584", source="MONDO:Redundant", source="NCIT:C8190"} ! subglottis squamous cell carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0036068 ! subglottis

[Term]
id: MONDO:0004291
name: subglottis squamous cell carcinoma
def: "A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermoid carcinoma of subglottis" EXACT [NCIT:C8187]
synonym: "epidermoid carcinoma of the subglottis" EXACT [DOID:7585, NCIT:C8187]
synonym: "squamous cell carcinoma of subglottis" EXACT [NCIT:C8187]
synonym: "squamous cell carcinoma of the subglottis" EXACT [NCIT:C8187]
synonym: "subglottic epidermoid carcinoma" EXACT [NCIT:C8187]
synonym: "subglottic squamous cell carcinoma" EXACT [NCIT:C8187]
synonym: "subglottis epidermoid carcinoma" EXACT [NCIT:C8187]
synonym: "subglottis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8187]
xref: DOID:7585 {source="MONDO:equivalentTo"}
xref: MEDGEN:124720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8187 {source="MONDO:equivalentTo", source="DOID:7585"}
xref: UMLS:C0280326 {source="MEDGEN:124720", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004358 {source="DOID:7585", source="MONDO:Redundant", source="NCIT:C8187"} ! subglottis carcinoma
is_a: MONDO:0005595 {source="MONDO:Redundant", source="NCIT:C8187"} ! laryngeal squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0036068 ! subglottis

[Term]
id: MONDO:0004292
name: supraglottis verrucous carcinoma
def: "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx." [NCIT:C8191]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "supraglottic part of larynx verrucous carcinoma" EXACT [MONDO:patterns/location]
synonym: "supraglottic verrucous carcinoma" EXACT [NCIT:C8191]
synonym: "supraglottis verrucous carcinoma" EXACT [NCIT:C8191]
synonym: "verrucous carcinoma of supraglottis" EXACT [DOID:7586, NCIT:C8191]
synonym: "verrucous carcinoma of the supraglottis" EXACT [DOID:7586, NCIT:C8191]
xref: DOID:7586 {source="MONDO:equivalentTo"}
xref: MEDGEN:76098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8191 {source="MONDO:equivalentTo", source="DOID:7586"}
xref: UMLS:C0280331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76098"}
is_a: MONDO:0004293 {source="DOID:7586", source="MONDO:Redundant", source="NCIT:C8191"} ! supraglottis squamous cell carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0036263 ! supraglottic part of larynx

[Term]
id: MONDO:0004293
name: supraglottis squamous cell carcinoma
def: "A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermoid carcinoma of supraglottis" EXACT [NCIT:C4945]
synonym: "epidermoid carcinoma of the supraglottis" EXACT [DOID:7587, NCIT:C4945]
synonym: "squamous cell carcinoma of supraglottis" EXACT [NCIT:C4945]
synonym: "squamous cell carcinoma of the supraglottis" EXACT [NCIT:C4945]
synonym: "supraglottic epidermoid carcinoma" EXACT [NCIT:C4945]
synonym: "supraglottic part of larynx squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "supraglottic squamous cell carcinoma" EXACT [NCIT:C4945]
synonym: "supraglottis epidermoid carcinoma" EXACT [NCIT:C4945]
synonym: "supraglottis squamous cell carcinoma" EXACT [NCIT:C4945]
xref: DOID:7587 {source="MONDO:equivalentTo"}
xref: MEDGEN:152890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4945 {source="DOID:7587", source="MONDO:equivalentTo"}
xref: UMLS:C0749163 {source="MONDO:equivalentTo", source="MEDGEN:152890", source="MONDO:MEDGEN"}
is_a: MONDO:0004357 {source="DOID:7587", source="MONDO:Redundant", source="NCIT:C4945"} ! carcinoma of supraglottis
is_a: MONDO:0005595 {source="MONDO:Redundant", source="NCIT:C4945"} ! laryngeal squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0036263 ! supraglottic part of larynx

[Term]
id: MONDO:0004294
name: gestational ovarian choriocarcinoma
def: "A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present." [NCIT:C40442]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gestational ovarian choriocarcinoma" EXACT [NCIT:C40442]
xref: DOID:7591 {source="MONDO:equivalentTo"}
xref: MEDGEN:274586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40442 {source="MONDO:equivalentTo", source="DOID:7591", source="MONDO:exact-label-match"}
xref: UMLS:C1517538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274586"}
is_a: MONDO:0003507 {source="DOID:7591", source="MONDO:Entailed", source="NCIT:C40442"} ! choriocarcinoma of ovary
is_a: MONDO:0020550 {source="NCIT:C40442"} ! gestational choriocarcinoma
is_a: MONDO:0024575 {source="NCIT:C40442/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! pregnancy disorder
intersection_of: MONDO:0020550 ! gestational choriocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0004295
name: asbestos-related lung carcinoma
def: "A carcinoma arising in the lung due to exposure to asbestos." [NCIT:C27925]
synonym: "asbestos-related lung cancer" EXACT [NCIT:C27925]
synonym: "asbestos-related lung carcinoma" EXACT [NCIT:C27925]
xref: DOID:7596 {source="MONDO:equivalentTo"}
xref: MEDGEN:231080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27925 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7596"}
xref: UMLS:C1332337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231080"}
is_a: MONDO:0005138 {source="DOID:7596", source="NCIT:C27925"} ! lung carcinoma
intersection_of: MONDO:0005138 ! lung carcinoma
intersection_of: realized_in_response_to_stimulus ENVO:02000106 ! asbestos dust

[Term]
id: MONDO:0004296
name: cervical lymphoepithelioma-like carcinoma
def: "A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate." [NCIT:C40193]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical lymphoepithelioma-like carcinoma" EXACT [NCIT:C40193]
xref: DOID:7598 {source="MONDO:equivalentTo"}
xref: MEDGEN:308946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40193 {source="DOID:7598", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1516418 {source="MEDGEN:308946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003572 {source="NCIT:C40193"} ! nasopharyngeal type undifferentiated carcinoma
is_a: MONDO:0006143 {source="DOID:7598", source="NCIT:C40193"} ! cervical squamous cell carcinoma

[Term]
id: MONDO:0004297
name: lymphoepithelioma-like thymic carcinoma
def: "A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoepithelial cancer of the Thymus" EXACT [NCIT:C7998]
synonym: "lymphoepithelial cancer of Thymus" EXACT [NCIT:C7998]
synonym: "lymphoepithelial Thymus cancer" EXACT [NCIT:C7998]
synonym: "lymphoepithelioma-like carcinoma of the Thymus" EXACT [DOID:7599, NCIT:C7998]
synonym: "lymphoepithelioma-like carcinoma of Thymus" EXACT [NCIT:C7998]
synonym: "lymphoepithelioma-like thymic carcinoma" EXACT [NCIT:C7998]
synonym: "lymphoepithelioma-like Thymus carcinoma" EXACT [NCIT:C7998]
synonym: "malignant lymphoepithelial thymoma" EXACT [NCIT:C7998]
synonym: "thymic lymphoepithelioma-like carcinoma" EXACT [NCIT:C7998]
xref: DOID:7599 {source="MONDO:equivalentTo"}
xref: MEDGEN:79026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7998 {source="DOID:7599", source="MONDO:equivalentTo"}
xref: UMLS:C0279706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79026"}
is_a: MONDO:0003572 {source="NCIT:C7998"} ! nasopharyngeal type undifferentiated carcinoma
is_a: MONDO:0006451 {source="DOID:7599", source="NCIT:C7998"} ! thymic carcinoma

[Term]
id: MONDO:0004298
name: stomach disorder
def: "A disease involving the stomach." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of stomach" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of stomach" EXACT []
synonym: "disorder of stomach" EXACT [MONDO:patterns/location_top]
synonym: "gastric disease" RELATED [DOID:76]
synonym: "gastropathy" EXACT [DOID:76]
synonym: "stomach disease" EXACT [MONDO:patterns/location]
synonym: "stomach disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "stomach disorder" EXACT [DOID:76, NCIT:C26886]
xref: DOID:76 {source="MONDO:equivalentTo"}
xref: EFO:0009608 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K20-K31 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:537.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:537.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013272 {source="DOID:76", source="MONDO:equivalentTo"}
xref: NCIT:C26886 {source="DOID:76", source="MONDO:equivalentTo"}
xref: SCTID:155671005 {source="DOID:76"}
xref: SCTID:183927002 {source="DOID:76"}
xref: SCTID:196598004 {source="DOID:76"}
xref: SCTID:266497000 {source="DOID:76"}
xref: SCTID:29384001 {source="DOID:76", source="MONDO:equivalentTo"}
xref: UMLS:C0038354 {source="MEDGEN:21329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="DOID:76", source="MESH:D013272", source="MONDO:Redundant", source="NCIT:C26886"} ! digestive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0004299
name: infiltrating bladder lymphoepithelioma-like carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating bladder lymphoepithelioma-like carcinoma" EXACT [MONDO:0006252, NCIT:C39821]
xref: DOID:7600 {source="MONDO:equivalentTo"}
xref: MEDGEN:268571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39821 {source="DOID:7600", source="MONDO:equivalentTo", source="EFO:1000302", source="MONDO:exact-label-match"}
xref: UMLS:C1512736 {source="MEDGEN:268571", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003572 {source="NCIT:C39821"} ! nasopharyngeal type undifferentiated carcinoma
is_a: MONDO:0003890 {source="DOID:7600", source="NCIT:C39821"} ! infiltrating bladder urothelial carcinoma

[Term]
id: MONDO:0004300
name: obsolete intracortical osteogenic sarcoma
is_obsolete: true
replaced_by: MONDO:0002631

[Term]
id: MONDO:0004301
name: fibrosarcomatous osteosarcoma
def: "A conventional osteosarcoma characterized by the presence of spindle shaped cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibroblastic osteogenic sarcoma" EXACT [NCIT:C4020]
synonym: "fibroblastic osteosarcoma" EXACT [NCIT:C4020]
synonym: "fibroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:7603]
synonym: "fibrosarcomatous osteogenic sarcoma" EXACT [DOID:7603, NCIT:C4020]
synonym: "fibrosarcomatous osteosarcoma" EXACT [NCIT:C4020]
synonym: "FIOS" RELATED ABBREVIATION [ONCOTREE:FIOS]
xref: DOID:7603 {source="MONDO:equivalentTo"}
xref: ICDO:9182/3 {source="NCIT:C4020"}
xref: MEDGEN:79012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4020 {source="DOID:7603", source="MONDO:equivalentTo"}
xref: ONCOTREE:FIOS {source="MONDO:equivalentTo"}
xref: SCTID:12690005 {source="DOID:7603"}
xref: UMLS:C0279602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79012"}
is_a: MONDO:0002631 {source="DOID:7603", source="NCIT:C4020"} ! conventional osteosarcoma

[Term]
id: MONDO:0004302
name: chief cell adenoma
def: "A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei." [NCIT:P378]
synonym: "chief cell adenoma" EXACT [NCIT:C4154]
synonym: "chief cell adenoma of parathyroid" EXACT [NCIT:C4154]
synonym: "chief cell adenoma of parathyroid gland" EXACT [DOID:7607, NCIT:C4154]
synonym: "chief cell adenoma of the parathyroid" EXACT [NCIT:C4154]
synonym: "chief cell adenoma of the parathyroid gland" EXACT [NCIT:C4154]
synonym: "parathyroid chief cell adenoma" EXACT [NCIT:C4154]
synonym: "parathyroid gland chief cell adenoma" EXACT [NCIT:C4154]
xref: DOID:7607 {source="MONDO:equivalentTo"}
xref: ICDO:8321/0 {source="NCIT:C4154"}
xref: MEDGEN:83128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4154 {source="MONDO:equivalentTo", source="DOID:7607"}
xref: SCTID:12205003 {source="DOID:7607"}
xref: UMLS:C0334320 {source="MEDGEN:83128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006890 {source="DOID:7607", source="NCIT:C4154"} ! parathyroid gland adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location CL:0000446 ! chief cell of parathyroid gland

[Term]
id: MONDO:0004303
name: parathyroid gland clear cell adenoma
def: "A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm." [NCIT:C7993]
synonym: "clear cell adenoma of parathyroid" EXACT [NCIT:C7993]
synonym: "clear cell adenoma of parathyroid gland" EXACT [NCIT:C7993]
synonym: "clear cell adenoma of the parathyroid" EXACT [DOID:7609, NCIT:C7993]
synonym: "clear cell adenoma of the parathyroid gland" EXACT [NCIT:C7993]
synonym: "parathyroid clear cell adenoma" EXACT [NCIT:C7993]
synonym: "parathyroid gland clear cell adenoma" EXACT [NCIT:C7993]
synonym: "parathyroid gland transitional clear cell adenoma" EXACT [NCIT:C7993]
synonym: "parathyroid transitional clear cell adenoma" EXACT [NCIT:C7993]
synonym: "transitional clear cell adenoma of parathyroid" EXACT [NCIT:C7993]
synonym: "transitional clear cell adenoma of parathyroid gland" EXACT [NCIT:C7993]
synonym: "transitional clear cell adenoma of the parathyroid" EXACT [NCIT:C7993]
synonym: "transitional clear cell adenoma of the parathyroid gland" EXACT [NCIT:C7993]
xref: DOID:7609 {source="MONDO:equivalentTo"}
xref: MEDGEN:83546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7993 {source="MONDO:equivalentTo", source="DOID:7609"}
xref: UMLS:C0279700 {source="MEDGEN:83546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003426 {source="NCIT:C7993"} ! clear cell adenoma
is_a: MONDO:0006890 {source="DOID:7609", source="NCIT:C7993"} ! parathyroid gland adenoma
intersection_of: MONDO:0003426 ! clear cell adenoma
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland

[Term]
id: MONDO:0004304
name: mixed cell type adenoma of parathyroid
def: "A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells)." [NCIT:P378]
synonym: "mixed cell type adenoma of parathyroid" EXACT [NCIT:C7994]
synonym: "mixed cell type adenoma of parathyroid gland" EXACT [NCIT:C7994]
synonym: "mixed cell type adenoma of the parathyroid" EXACT [NCIT:C7994]
synonym: "mixed cell type adenoma of the parathyroid gland" EXACT [DOID:7610, NCIT:C7994]
synonym: "parathyroid gland mixed cell type adenoma" EXACT [NCIT:C7994]
synonym: "parathyroid mixed cell type adenoma" EXACT [NCIT:C7994]
xref: DOID:7610 {source="MONDO:equivalentTo"}
xref: MEDGEN:83547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7994 {source="DOID:7610", source="MONDO:equivalentTo"}
xref: UMLS:C0279701 {source="MONDO:equivalentTo", source="MEDGEN:83547", source="MONDO:MEDGEN"}
is_a: MONDO:0003421 {source="NCIT:C7994"} ! mixed cell adenoma
is_a: MONDO:0006890 {source="DOID:7610", source="NCIT:C7994"} ! parathyroid gland adenoma
intersection_of: MONDO:0003421 ! mixed cell adenoma
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland

[Term]
id: MONDO:0004305
name: parathyroid oncocytic adenoma
def: "A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm." [NCIT:P378]
synonym: "parathyroid gland oncocytic adenoma" EXACT [NCIT:C27393]
synonym: "parathyroid oncocytic adenoma" EXACT [NCIT:C27393]
xref: DOID:7611 {source="MONDO:equivalentTo"}
xref: MEDGEN:233845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27393 {source="DOID:7611", source="MONDO:equivalentTo"}
xref: UMLS:C1335351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233845"}
is_a: MONDO:0003424 {source="NCIT:C27393"} ! oncocytic adenoma
is_a: MONDO:0006890 {source="DOID:7611", source="NCIT:C27393"} ! parathyroid gland adenoma
intersection_of: MONDO:0003424 ! oncocytic adenoma
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland

[Term]
id: MONDO:0004306
name: childhood intracortical osteosarcoma
def: "A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "childhood conventional osteosarcoma" EXACT [NCIT:C6590]
synonym: "childhood intracortical osteosarcoma" EXACT [NCIT:C6590]
xref: DOID:7612 {source="MONDO:equivalentTo"}
xref: MEDGEN:232350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6590 {source="DOID:7612", source="MONDO:equivalentTo"}
xref: UMLS:C1332974 {source="MEDGEN:232350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002623 {source="NCIT:C6590"} ! pediatric osteosarcoma
is_a: MONDO:0002631 {source="DOID:7612", source="DOID:7612/inferred", source="MONDO:Redundant", source="NCIT:C6590"} ! conventional osteosarcoma

[Term]
id: MONDO:0004307
name: sarcomatosis of the meninges
def: "A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningeal cluster sarcomatosis" EXACT [MONDO:patterns/location]
synonym: "meningeal sarcomatosis" EXACT [NCIT:C4334]
synonym: "meningeal sarcomatosis (morphologic abnormality)" EXACT [DOID:7613]
synonym: "meninges sarcomatosis" EXACT [NCIT:C4334]
synonym: "sarcomatosis of meninges" EXACT [DOID:7613, NCIT:C4334]
synonym: "sarcomatosis of the meninges" EXACT [NCIT:C4334]
xref: DOID:7613 {source="MONDO:equivalentTo"}
xref: ICDO:9539/3 {source="NCIT:C4334"}
xref: MEDGEN:83175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4334 {source="DOID:7613", source="MONDO:equivalentTo"}
xref: SCTID:14494009 {source="DOID:7613"}
xref: UMLS:C0334612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83175"}
is_a: MONDO:0004308 {source="DOID:7613", source="MONDO:Redundant", source="NCIT:C4334"} ! meningeal sarcoma
is_a: MONDO:0004309 {source="DOID:7613", source="MONDO:Redundant", source="NCIT:C4334"} ! sarcomatosis
intersection_of: MONDO:0004309 ! sarcomatosis
intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster

[Term]
id: MONDO:0004308
name: meningeal sarcoma
def: "A rare sarcoma arising from the meninges." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningeal cluster sarcoma" EXACT [MONDO:patterns/location]
synonym: "meningeal sarcoma" EXACT [DOID:7614, NCIT:C4073]
synonym: "meninges sarcoma" EXACT [NCIT:C4073]
synonym: "sarcoma of meningeal cluster" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of meninges" EXACT [DOID:7614, NCIT:C4073]
synonym: "sarcoma of the meninges" EXACT [NCIT:C4073]
xref: DOID:7614 {source="MONDO:equivalentTo"}
xref: MEDGEN:90148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4073 {source="DOID:7614", source="MONDO:equivalentTo"}
xref: SCTID:277996009 {source="DOID:7614"}
xref: SCTID:78303004 {source="DOID:7614"}
xref: UMLS:C0302327 {source="MEDGEN:90148", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002217 {source="DOID:7614", source="MONDO:Redundant", source="NCIT:C4073"} ! central nervous system sarcoma
is_a: MONDO:0021322 {source="MONDO:Redundant", source="NCIT:C4073"} ! malignant tumor of meninges
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster
relationship: excluded_subClassOf MONDO:0016642 {source="DOID:7614", source="https://orcid.org/0000-0001-5208-3432"} ! meningioma

[Term]
id: MONDO:0004309
name: sarcomatosis
def: "The occurrence of several sarcomas in different anatomic locations." [NCIT:C4243]
synonym: "sarcomatosis" EXACT [NCIT:C4243]
synonym: "sarcomatosis (morphologic abnormality)" EXACT [DOID:7615]
synonym: "sarcomatosis NOS (morphologic abnormality)" EXACT [DOID:7615]
xref: DOID:7615 {source="MONDO:equivalentTo"}
xref: ICDO:8800/9 {source="NCIT:C4243"}
xref: MEDGEN:83152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4243 {source="MONDO:equivalentTo", source="DOID:7615", source="MONDO:exact-label-match"}
xref: SCTID:189765009 {source="DOID:7615"}
xref: SCTID:9395006 {source="DOID:7615"}
xref: UMLS:C0334451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83152"}
is_a: MONDO:0005089 {source="DOID:7615", source="NCIT:C4243/inferred"} ! sarcoma

[Term]
id: MONDO:0004310
name: adult embryonal tumor with multilayered rosettes, c19mc-altered
def: "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults." [NCIT:C8290]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult embryonal tumor with multilayered rosettes, C19MC-altered" EXACT [NCIT:C8290]
synonym: "adult embryonal tumour with multilayered rosettes, C19MC-altered" EXACT OMO:0003005 []
synonym: "adult ependymoblastoma" EXACT [NCIT:C8290]
synonym: "embryonal tumor with multilayered rosettes, C19MC-altered" BROAD [NCIT:C8290]
synonym: "embryonal tumour with multilayered rosettes, C19MC-altered" BROAD OMO:0003005 []
synonym: "ependymoblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7631 {source="MONDO:equivalentTo"}
xref: MEDGEN:83792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8290 {source="DOID:7631", source="MONDO:equivalentTo"}
xref: UMLS:C0281330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83792"}
is_a: MONDO:0016715 {source="DOID:7631", source="MONDO:Redundant", source="NCIT:C8290"} ! ependymoblastoma
intersection_of: MONDO:0016715 ! ependymoblastoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004311
name: carcinoma of Cowper glands
def: "A carcinoma that involves the bulbo-urethral gland." [MONDO:patterns/location]
synonym: "bulbo-urethral gland carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma of bulbo-urethral gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of Cowper glands" EXACT [NCIT:C39864]
synonym: "Cowper gland carcinoma" RELATED [DOID:7632]
xref: DOID:7632 {source="MONDO:equivalentTo"}
xref: MEDGEN:273091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39864 {source="DOID:7632", source="MONDO:equivalentTo"}
xref: UMLS:C1516284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273091"}
is_a: MONDO:0003975 {source="MONDO:Redundant", source="NCIT:C39864"} ! Littre gland carcinoma
is_a: MONDO:0004197 {source="MONDO:Redundant", source="NCIT:C39864"} ! male urethral cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002366 ! bulbo-urethral gland

[Term]
id: MONDO:0004312
name: suprasellar meningioma
def: "A meningioma that affects the suprasellar region." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of sella turcica" EXACT []
synonym: "sella turcica meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:7634 {source="MONDO:equivalentTo"}
xref: MEDGEN:234911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6776 {source="DOID:7634", source="MONDO:equivalentTo"}
xref: UMLS:C1336535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234911"}
is_a: MONDO:0016642 {source="DOID:7634", source="MONDO:Redundant", source="NCIT:C6776/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0003689 ! sella turcica

[Term]
id: MONDO:0004313
name: gasserian ganglion meningioma
def: "A meningioma that affects the trigeminal ganglion." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gasserian ganglion meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "Gasserian meningioma" EXACT [NCIT:C6779]
synonym: "meningioma (disease) of gasserian ganglion" EXACT []
synonym: "meningioma of Gasserian ganglion" EXACT [DOID:7635, NCIT:C6779]
synonym: "meningioma of the Gasserian ganglion" EXACT [NCIT:C6779]
xref: DOID:7635 {source="MONDO:equivalentTo"}
xref: MEDGEN:232542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6779 {source="DOID:7635", source="MONDO:equivalentTo"}
xref: UMLS:C1333760 {source="MEDGEN:232542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016642 {source="DOID:7635", source="MONDO:Redundant", source="NCIT:C6779/inferred"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:3011045 ! obsolete gasserian ganglion

[Term]
id: MONDO:0004314
name: malignant cutaneous granular cell skin tumor
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant cutaneous granular cell tumor" EXACT [NCIT:C5614]
synonym: "malignant cutaneous granular cell tumour" EXACT OMO:0003005 []
synonym: "malignant granular cell neoplasm of skin" EXACT [NCIT:C5614]
synonym: "malignant granular cell neoplasm of the skin" EXACT [NCIT:C5614]
synonym: "malignant granular cell skin neoplasm" EXACT [DOID:7639, NCIT:C5614]
synonym: "malignant granular cell skin tumor" EXACT [NCIT:C5614]
synonym: "malignant granular cell skin tumour" EXACT OMO:0003005 []
synonym: "malignant granular cell tumor of skin" EXACT [DOID:7639, NCIT:C5614]
synonym: "malignant granular cell tumor of the skin" EXACT [NCIT:C5614]
synonym: "malignant granular cell tumour of skin" EXACT OMO:0003005 []
synonym: "malignant granular cell tumour of the skin" EXACT OMO:0003005 []
xref: DOID:7639 {source="MONDO:equivalentTo"}
xref: MEDGEN:233658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5614 {source="MONDO:equivalentTo", source="DOID:7639"}
xref: UMLS:C1334575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233658"}
is_a: MONDO:0002291 {source="MONDO:Redundant", source="NCIT:C5614"} ! cutaneous granular cell tumor
is_a: MONDO:0003252 {source="MONDO:Redundant", source="NCIT:C5614"} ! granular cell cancer
is_a: MONDO:0003363 {source="DOID:7639", source="MONDO:Redundant", source="NCIT:C5614"} ! malignant dermis tumor
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0004315
name: cholangiolocellular carcinoma
def: "An intrahepatic cholangiocarcinoma that arises from the canals of Hering." [NCIT:C41617]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cholangiocarcinoma of intralobular bile duct" EXACT [MONDO:design_pattern]
synonym: "cholangiolocellular carcinoma" EXACT [NCIT:C41617]
synonym: "CLC" EXACT ABBREVIATION [NCIT:C41617]
synonym: "intralobular bile duct cholangiocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7642 {source="MONDO:equivalentTo"}
xref: MEDGEN:273143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41617 {source="DOID:7642", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1516490 {source="MEDGEN:273143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003210 {source="DOID:7642", source="NCIT:C41617"} ! intrahepatic cholangiocarcinoma
intersection_of: MONDO:0019087 ! cholangiocarcinoma
intersection_of: disease_has_location UBERON:0001282 ! intralobular bile duct

[Term]
id: MONDO:0004316
name: acantholytic squamous cell skin carcinoma
def: "A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis." [NCIT:P378]
synonym: "acantholytic squamous cell carcinoma of skin" RELATED [DOID:7643]
synonym: "acantholytic squamous cell carcinoma of the skin" EXACT [NCIT:C4460]
synonym: "acantholytic squamous cell skin carcinoma" EXACT [DOID:7643, NCIT:C4460]
xref: DOID:7643 {source="MONDO:equivalentTo"}
xref: MEDGEN:91065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4460 {source="DOID:7643", source="MONDO:equivalentTo"}
xref: SCTID:254654004 {source="DOID:7643", source="MONDO:equivalentTo"}
xref: UMLS:C0345979 {source="MEDGEN:91065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002529 {source="DOID:7643", source="NCIT:C4460"} ! skin squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C4460"} ! keratinizing squamous cell carcinoma

[Term]
id: MONDO:0004317
name: multiple spinal canal and spinal cord meningioma
def: "Multiple meningiomas that arises from the spinal meninges." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "multiple intraspinal Meningiomas" EXACT [NCIT:C5275]
synonym: "multiple Meningiomas of spinal canal and spinal cord" EXACT [NCIT:C5275]
synonym: "multiple meningiomas of the spinal canal and spinal cord" EXACT [DOID:7646, NCIT:C5275]
synonym: "multiple spinal canal and spinal cord Meningiomas" EXACT [NCIT:C5275]
xref: DOID:7646 {source="MONDO:equivalentTo"}
xref: MEDGEN:235341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5275 {source="DOID:7646", source="MONDO:equivalentTo"}
xref: UMLS:C1334825 {source="MEDGEN:235341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001279 {source="DOID:7646", source="NCIT:C5275"} ! intraspinal meningioma

[Term]
id: MONDO:0004318
name: pulmonary type ovarian small cell carcinoma
def: "An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung." [NCIT:C40440]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian small cell carcinoma, pulmonary type" EXACT [NCIT:C40440]
xref: DOID:7650 {source="MONDO:equivalentTo"}
xref: MEDGEN:309517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40440 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7650"}
xref: UMLS:C1518737 {source="MEDGEN:309517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="MONDO:0004318/inferred", source="MONDO:Redundant", source="NCIT:C40440"} ! small cell carcinoma
is_a: MONDO:0003795 {source="DOID:7650", source="NCIT:C40440"} ! ovarian small cell carcinoma

[Term]
id: MONDO:0004319
name: hypercalcemic type ovarian small cell carcinoma
def: "An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ovarian small cell carcinoma, hypercalcemic type" EXACT [NCIT:C40439]
synonym: "SCCOHT" EXACT ABBREVIATION [NCIT:C40439]
xref: DOID:7651 {source="MONDO:equivalentTo"}
xref: MEDGEN:275294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40439 {source="MONDO:equivalentTo", source="DOID:7651"}
xref: UMLS:C1518736 {source="MEDGEN:275294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003795 {source="DOID:7651", source="NCIT:C40439"} ! ovarian small cell carcinoma

[Term]
id: MONDO:0004320
name: adult infiltrating astrocytic neoplasm
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult infiltrating astrocytic neoplasm" EXACT [NCIT:C8289]
synonym: "adult infiltrating astrocytic tumor" EXACT [DOID:7656, NCIT:C8289]
synonym: "adult infiltrating astrocytic tumour" EXACT OMO:0003005 []
synonym: "adult infiltrating astrocytoma" NARROW [DOID:7656, MTH:NOCODE]
xref: DOID:7656 {source="MONDO:equivalentTo"}
xref: MEDGEN:79278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8289 {source="DOID:7656", source="MONDO:equivalentTo"}
xref: UMLS:C0281329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79278"}
is_a: MONDO:0002503 {source="DOID:7656", source="NCIT:C8289"} ! adult astrocytic tumor

[Term]
id: MONDO:0004321
name: endometrial mixed adenocarcinoma
def: "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor." [NCIT:C40153]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial mixed adenocarcinoma" EXACT [NCIT:C40153]
xref: DOID:7664 {source="MONDO:equivalentTo"}
xref: MEDGEN:1670192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40153 {source="DOID:7664", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C4745252 {source="MEDGEN:1670192", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005461 {source="DOID:7664", source="NCIT:C40153"} ! endometrium adenocarcinoma

[Term]
id: MONDO:0004322
name: non-gestational ovarian choriocarcinoma
def: "A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma." [NCIT:C39991]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7665 {source="MONDO:equivalentTo"}
xref: MEDGEN:274798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39991 {source="DOID:7665", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1518355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274798"}
is_a: MONDO:0003408 {source="DOID:7665", source="NCIT:C39991/inferred"} ! ovarian primitive germ cell tumor
is_a: MONDO:0003507 {source="DOID:7665", source="NCIT:C39991"} ! choriocarcinoma of ovary

[Term]
id: MONDO:0004323
name: muscular atrophy
def: "The loss of muscle tissue due to inactivity or disease." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyotrophia" EXACT [DOID:767]
synonym: "muscle wasting" EXACT [DOID:767]
synonym: "wasting - muscle" EXACT [DOID:767]
xref: DOID:767 {source="MONDO:equivalentTo"}
xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:892680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009133 {source="DOID:767", source="MONDO:equivalentTo"}
xref: NCIT:C94834 {source="DOID:767", source="MONDO:otherHierarchy"}
xref: SCTID:155014006 {source="DOID:767"}
xref: SCTID:156721007 {source="DOID:767"}
xref: SCTID:203036002 {source="DOID:767"}
xref: SCTID:249827008 {source="DOID:767"}
xref: SCTID:267693003 {source="DOID:767"}
xref: SCTID:268104000 {source="DOID:767"}
xref: SCTID:88092000 {source="DOID:767", source="MONDO:equivalentTo"}
xref: UMLS:C0541794 {source="MEDGEN:892680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:767"} ! myopathy

[Term]
id: MONDO:0004324
name: testicular fibroma
def: "A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7675 {source="MONDO:equivalentTo"}
xref: MEDGEN:308256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39951 {source="DOID:7675", source="MONDO:equivalentTo"}
xref: UMLS:C1515282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308256"}
is_a: MONDO:0003125 {source="DOID:7675", source="NCIT:C39951/inferred"} ! testicular sex cord-stromal neoplasm
is_a: MONDO:0005167 {source="MONDO:Redundant", source="NCIT:C39951"} ! fibroma
intersection_of: MONDO:0005167 ! fibroma
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0004325
name: testicular thecoma
def: "A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testis thecoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "thecoma of testis" EXACT [MONDO:design_pattern]
xref: DOID:7676 {source="MONDO:equivalentTo"}
xref: MEDGEN:308260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39952 {source="DOID:7676", source="MONDO:equivalentTo"}
xref: UMLS:C1515299 {source="MONDO:equivalentTo", source="MEDGEN:308260", source="MONDO:MEDGEN"}
is_a: MONDO:0003125 {source="DOID:7676", source="MONDO:Redundant", source="NCIT:C39952/inferred"} ! testicular sex cord-stromal neoplasm
intersection_of: MONDO:0037252 ! thecoma
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0004326
name: sphenoid sinus inverted papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "inverted papilloma of sphenoid sinus" EXACT [NCIT:C6841]
synonym: "inverted papilloma of the sphenoid sinus" EXACT [DOID:7678, NCIT:C6841]
synonym: "sphenoidal sinus inverted papilloma" EXACT [MONDO:patterns/location]
xref: DOID:7678 {source="MONDO:equivalentTo"}
xref: MEDGEN:236834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6841 {source="DOID:7678", source="MONDO:equivalentTo"}
xref: UMLS:C1336037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236834"}
is_a: MONDO:0002537 {source="DOID:7678", source="MONDO:Redundant", source="NCIT:C6841/inferred"} ! inverted papilloma
is_a: MONDO:0004047 {source="DOID:7678", source="MONDO:Redundant", source="NCIT:C6841/inferred"} ! sphenoidal sinus neoplasm
is_a: MONDO:0004327 {source="NCIT:C6841"} ! sphenoid sinus Schneiderian papilloma
is_a: MONDO:0021477 {source="MONDO:Redundant", source="NCIT:C6841/inferred"} ! benign neoplasm of sphenoidal sinus
intersection_of: MONDO:0002537 ! inverted papilloma
intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus

[Term]
id: MONDO:0004327
name: sphenoid sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6838]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Schneiderian papilloma of sphenoid sinus" RELATED [NCIT:C6838]
synonym: "Schneiderian papilloma of the sphenoid sinus" EXACT [DOID:7679, NCIT:C6838]
synonym: "sphenoid sinus Schneiderian papilloma" EXACT [NCIT:C6838]
xref: DOID:7679 {source="MONDO:equivalentTo"}
xref: MEDGEN:277659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6838 {source="DOID:7679", source="MONDO:equivalentTo", source="NCIT:C6838"}
xref: UMLS:C1336038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277659"}
is_a: MONDO:0004047 {source="DOID:7679", source="MONDO:Redundant", source="NCIT:C6838/inferred"} ! sphenoidal sinus neoplasm
is_a: MONDO:0006353 {source="NCIT:C6838"} ! paranasal sinus Schneiderian papilloma
is_a: MONDO:0021477 {source="MONDO:Redundant", source="NCIT:C6838"} ! benign neoplasm of sphenoidal sinus

[Term]
id: MONDO:0004328
name: maxillary sinus adenocarcinoma
def: "An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs." [NCIT:C6240]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adenocarcinoma of maxillary sinus" RELATED [DOID:7684, NCIT:C6240]
synonym: "adenocarcinoma of the maxillary sinus" EXACT [DOID:7684, NCIT:C6240]
synonym: "maxillary sinus adenocarcinoma" EXACT [NCIT:C6240]
xref: DOID:7684 {source="MONDO:equivalentTo"}
xref: MEDGEN:233167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6240 {source="MONDO:equivalentTo", source="DOID:7684"}
xref: SCTID:707339009 {source="MONDO:equivalentTo"}
xref: UMLS:C1334642 {source="MEDGEN:233167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001748 {source="DOID:7684", source="MONDO:Redundant", source="NCIT:C6240", source="NCIT:C6240/inferred"} ! maxillary sinus carcinoma
is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C6240/inferred"} ! head and neck carcinoma
is_a: MONDO:0004970 {source="DOID:7684/inferred", source="MONDO:Redundant", source="NCIT:C6240/inferred"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus
intersection_of: realized_in_response_to_stimulus CL:0000066 ! epithelial cell

[Term]
id: MONDO:0004329
name: pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia
def: "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present." [NCIT:C41251]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia" EXACT [NCIT:C41251]
synonym: "pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia" EXACT [NCIT:C41251]
synonym: "pancreatic non-invasive intraductal papillary-mucinous carcinoma" EXACT [NCIT:C41251]
xref: DOID:7685 {source="MONDO:equivalentTo"}
xref: ICDO:8453/2 {source="NCIT:C41251"}
xref: MEDGEN:275330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41251 {source="MONDO:equivalentTo", source="NCIT:C41251", source="DOID:7685"}
xref: UMLS:C1518873 {source="MEDGEN:275330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004285 {source="DOID:7685"} ! pancreatic intraductal papillary-mucinous carcinoma
is_a: MONDO:0004286 {source="DOID:7685/inferred", source="NCIT:C41251"} ! pancreatic intraductal papillary-mucinous neoplasm
relationship: has_characteristic PATO:0002132 ! neoplastic, non-invasive

[Term]
id: MONDO:0004330
name: leptomeningeal sarcoma
def: "A sarcoma arising from the leptomeninges." [NCIT:C8312]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "leptomeningeal sarcoma" EXACT [DOID:7689, NCIT:C8312]
synonym: "leptomeninges sarcoma" RELATED [DOID:7689]
synonym: "leptomeninx sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of leptomeninges" EXACT [DOID:7689, NCIT:C8312]
synonym: "sarcoma of leptomeninx" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of the leptomeninges" EXACT [NCIT:C8312]
synonym: "sarcoma, leptomeningeal, malignant" EXACT [NCIT:C8312]
synonym: "sarcoma, meningeal" EXACT [NCIT:C8312]
xref: DOID:7689 {source="MONDO:equivalentTo"}
xref: MEDGEN:235139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8312 {source="DOID:7689", source="MONDO:equivalentTo"}
xref: SCTID:78303004 {source="DOID:7689"}
xref: UMLS:C1384416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235139"}
is_a: MONDO:0003762 {source="DOID:7689", source="MONDO:Redundant", source="NCIT:C8312"} ! malignant leptomeningeal tumor
is_a: MONDO:0004308 {source="MONDO:Redundant", source="NCIT:C8312"} ! meningeal sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000391 ! leptomeninx

[Term]
id: MONDO:0004331
name: bladder urachal adenocarcinoma
def: "A adenocarcinoma that involves the urachus." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of the urachus" RELATED [GARD:0010186]
synonym: "bladder urachal adenocarcinoma" EXACT [NCIT:C39843]
synonym: "urachal adenocarcinoma" RELATED [ONCOTREE:UA]
synonym: "urachus adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:7694 {source="MONDO:equivalentTo"}
xref: MEDGEN:419014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536474 {source="MONDO:equivalentTo"}
xref: NCIT:C39843 {source="MONDO:equivalentTo", source="NCIT:C39843", source="DOID:7694"}
xref: ONCOTREE:UA {source="MONDO:equivalentTo"}
xref: UMLS:C2931201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419014"}
is_a: MONDO:0002751 {source="MONDO:Redundant", source="NCIT:C39843"} ! bladder adenocarcinoma
is_a: MONDO:0003715 {source="DOID:7694", source="NCIT:C39843", source="ONCOTREE:UA"} ! bladder urachal carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002068 ! urachus

[Term]
id: MONDO:0004332
name: lung hilum cancer
def: "A malignant neoplasm involving the lung hilus." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of lung hilus" EXACT [MONDO:patterns/cancer]
synonym: "lung hilus cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hilar lung neoplasm" EXACT [NCIT:C4566]
synonym: "malignant hilar lung tumor" EXACT [NCIT:C4566]
synonym: "malignant hilar lung tumour" EXACT OMO:0003005 []
synonym: "malignant lung hilum neoplasm" EXACT [NCIT:C4566]
synonym: "malignant lung hilum tumor" EXACT [NCIT:C4566]
synonym: "malignant lung hilum tumour" EXACT OMO:0003005 []
synonym: "malignant lung hilus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lung hilum" EXACT [NCIT:C4566]
synonym: "malignant neoplasm of lung hilus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the lung hilum" EXACT [NCIT:C4566]
synonym: "malignant tumor of lung hilum" EXACT [DOID:7696, NCIT:C4566]
synonym: "malignant tumor of the lung hilum" EXACT [NCIT:C4566]
synonym: "malignant tumour of lung hilum" EXACT OMO:0003005 []
synonym: "malignant tumour of the lung hilum" EXACT OMO:0003005 []
synonym: "primary malignant neoplasm of hilus of lung" EXACT [DOID:7696]
xref: DOID:7696 {source="MONDO:equivalentTo"}
xref: MEDGEN:435848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4566 {source="MONDO:equivalentTo"}
xref: SCTID:93827000 {source="MONDO:equivalentTo", source="DOID:7696"}
xref: UMLS:C2607931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:435848"}
is_a: MONDO:0003639 {source="MONDO:Redundant", source="NCIT:C4566"} ! lung hilum neoplasm
is_a: MONDO:0008903 {source="DOID:7696", source="MONDO:Redundant", source="NCIT:C4566"} ! lung cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0004886 ! lung hilus

[Term]
id: MONDO:0004333
name: pancreatic ACTH-producing neuroendocrine tumor
def: "A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor." [NCIT:C27466]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pancreatic ACTH hormone producing tumor" RELATED [DOID:7697]
synonym: "pancreatic ACTH hormone producing tumour" RELATED OMO:0003005 []
synonym: "pancreatic ACTH producing NET" EXACT [NCIT:C27466]
synonym: "pancreatic ACTH producing neuroendocrine tumor" EXACT [NCIT:C27466]
synonym: "pancreatic ACTH producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "pancreatic ACTH producing tumor" EXACT [NCIT:C27466]
synonym: "pancreatic ACTH producing tumour" EXACT OMO:0003005 []
synonym: "pancreatic ACTH-producing neuroendocrine tumor" EXACT [NCIT:C27466]
synonym: "pancreatic adrenocorticotropic hormone producing tumor" EXACT [DOID:7697, NCIT:C27466]
synonym: "pancreatic adrenocorticotropic hormone producing tumour" EXACT OMO:0003005 []
xref: DOID:7697 {source="MONDO:equivalentTo"}
xref: ICDO:8158/1 {source="NCIT:C27466"}
xref: MEDGEN:233302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27466 {source="DOID:7697", source="MONDO:equivalentTo"}
xref: UMLS:C1335300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233302"}
is_a: MONDO:0005815 {source="DOID:7697", source="NCIT:C27466/inferred"} ! pancreatic neuroendocrine neoplasm
is_a: MONDO:0023206 {source="MONDO:Redundant", source="NCIT:C27466/inferred"} ! functional pancreatic neuroendocrine tumor
intersection_of: MONDO:0023206 ! functional pancreatic neuroendocrine tumor
intersection_of: realized_in GO:0051458 ! corticotropin secretion
relationship: disease_has_feature MONDO:0018912 ! Cushing syndrome

[Term]
id: MONDO:0004334
name: non-functional pancreatic neuroendocrine tumor
def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." [NCIT:C45837]
subset: gard_rare {source="GARD:22054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:506075"}
subset: orphanet_rare {source="Orphanet:506075"}
subset: rare
synonym: "inactive pancreatic endocrine tumor" EXACT [NCIT:C45837]
synonym: "inactive pancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "non functioning pancreatic endocrine tumor" RELATED [GARD:0004002]
synonym: "non functioning pancreatic endocrine tumour" RELATED OMO:0003005 []
synonym: "non-functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45837]
synonym: "non-functioning endocrine pancreatic tumors" RELATED [GARD:0004002]
synonym: "non-functioning endocrine pancreatic tumours" RELATED OMO:0003005 []
synonym: "non-functioning EPTs" RELATED [GARD:0004002]
synonym: "non-functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506075]
synonym: "non-functioning neuroendocrine tumour of pancreas" RELATED OMO:0003005 []
synonym: "non-functioning pancreatic endocrine tumor" EXACT [NCIT:C45837]
synonym: "non-functioning pancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "non-functioning pancreatic NET" EXACT [NCIT:C45837, Orphanet:506075]
synonym: "non-functioning pancreatic neuroendocrine tumor" EXACT [NCIT:C45837, Orphanet:506075]
synonym: "non-functioning pancreatic neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "non-functioning PNET" EXACT [Orphanet:506075]
synonym: "non-functioning well differentiated pancreatic endocrine tumor" EXACT [NCIT:C45837]
synonym: "non-functioning well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "non-functioning well-differentiated NEN of pancreas" EXACT [Orphanet:506075]
synonym: "non-functioning well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506075]
synonym: "non-functioning well-differentiated pancreatic NEN" EXACT [Orphanet:506075]
synonym: "non-functioning well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506075]
synonym: "non-syndromic pancreatic NET" EXACT [NCIT:C45837]
synonym: "non-syndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45837]
synonym: "non-syndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "nonfunctional pancreatic NET" EXACT [NCIT:C45837]
synonym: "nonfunctional pancreatic neuroendocrine tumor" EXACT [NCIT:C45837]
synonym: "nonfunctional pancreatic neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "nonsyndromic pancreatic endocrine tumor" EXACT [NCIT:C45837]
synonym: "nonsyndromic pancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "nonsyndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45837]
synonym: "nonsyndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:7698 {source="MONDO:equivalentTo"}
xref: GARD:22054 {source="MONDO:GARD"}
xref: ICDO:8150/3 {source="NCIT:C45837"}
xref: MEDGEN:277416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536126 {source="DOID:7698", source="MONDO:equivalentTo"}
xref: NCIT:C45837 {source="DOID:7698", source="MONDO:equivalentTo"}
xref: Orphanet:506075 {source="MONDO:equivalentTo"}
xref: UMLS:C1334977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277416"}
is_a: MONDO:0019954 {source="MONDO:Redundant", source="NCIT:C45837", source="Orphanet:506075"} ! pancreatic neuroendocrine tumor
is_a: MONDO:0021119 {source="NCIT:C45837"} ! non-functioning endocrine neoplasm
intersection_of: MONDO:0019954 ! pancreatic neuroendocrine tumor
intersection_of: has_characteristic NCIT:C45980 ! Absence of a Hormonal Syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4002/non-functioning-pancreatic-endocrine-tumor" xsd:anyURI {source="GARD:0004002"}

[Term]
id: MONDO:0004335
name: digestive system disorder
def: "A disease or disorder that involves the digestive system." [MONDO:design_pattern]
subset: rare_grouping
synonym: "alimentary system disease" EXACT [DOID:77]
synonym: "digestive disease" EXACT [NCIT:C2990]
synonym: "digestive system disease" EXACT [NCIT:C2990]
synonym: "digestive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "digestive system disorder" EXACT [DOID:77, NCIT:C2990]
synonym: "disease of digestive system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of digestive system" EXACT []
synonym: "disorder of digestive system" EXACT [MONDO:patterns/location_top, NCIT:C2990]
synonym: "gastroenterological system disease" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "gastroenterological system disorder" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "gastroenteropathy" EXACT [DOID:77]
synonym: "gastrointestinal disease" EXACT [DOID:77]
synonym: "gastrointestinal disorder" EXACT [DOID:77, NCIT:C2990]
synonym: "gastrointestinal system disease" EXACT [NCIT:C2990]
synonym: "gastrointestinal system disorder" EXACT [NCIT:C2990]
synonym: "git disease" EXACT [DOID:77]
synonym: "stomach or intestinal disorder" EXACT [NCIT:C2990]
xref: DOID:77 {source="MONDO:equivalentTo"}
xref: ICD10CM:K00-K95 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K90-K95 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K92.9 {source="DOID:77"}
xref: ICD10CM:P76-P78 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:520-579.99 {source="DOID:77"}
xref: ICD9:V47.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:892790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004066 {source="DOID:77"}
xref: MESH:D005767 {source="MONDO:equivalentTo"}
xref: NANDO:1100013 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2990 {source="MONDO:equivalentTo"}
xref: SCTID:155629009 {source="DOID:77"}
xref: SCTID:155847001 {source="DOID:77"}
xref: SCTID:197575000 {source="DOID:77"}
xref: SCTID:266483008 {source="DOID:77"}
xref: SCTID:53619000 {source="DOID:77", source="MONDO:equivalentTo"}
xref: UMLS:C4023588 {source="MEDGEN:892790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system

[Term]
id: MONDO:0004336
name: rectal signet ring cell adenocarcinoma
def: "An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population." [NCIT:C9168]
synonym: "rectal signet Ring cell adenocarcinoma" EXACT [NCIT:C9168]
synonym: "rectum signet ring adenocarcinoma" RELATED [DOID:7707]
synonym: "rectum signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "signet Ring adenocarcinoma of rectum" EXACT [NCIT:C9168]
synonym: "signet Ring adenocarcinoma of the rectum" EXACT [NCIT:C9168]
synonym: "signet Ring cell adenocarcinoma of rectum" EXACT [DOID:7707, NCIT:C9168]
synonym: "signet Ring cell adenocarcinoma of the rectum" EXACT [NCIT:C9168]
xref: DOID:7707 {source="MONDO:equivalentTo"}
xref: MEDGEN:124641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9168 {source="MONDO:equivalentTo", source="DOID:7707"}
xref: UMLS:C0279654 {source="MEDGEN:124641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002169 {source="DOID:7707", source="MONDO:Redundant", source="NCIT:C9168"} ! rectum adenocarcinoma
is_a: MONDO:0005092 {source="DOID:7707", source="MONDO:Entailed", source="NCIT:C9168/inferred"} ! signet ring cell carcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0004337
name: perianal skin Paget disease
def: "Paget disease involving the perianal skin." [NCIT:C7476]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal margin Paget's disease" EXACT [NCIT:C7476]
synonym: "Paget disease of the anal margin" EXACT [NCIT:C7476]
synonym: "Paget's disease of the anal margin" EXACT [NCIT:C7476]
synonym: "perianal skin mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "perianal skin Paget disease" EXACT [DOID:7708, MONDO:patterns/location]
synonym: "perianal skin Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C7476]
xref: DOID:7708 {source="MONDO:equivalentTo"}
xref: MEDGEN:231372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7476 {source="MONDO:equivalentTo", source="DOID:7708"}
xref: UMLS:C1332270 {source="MEDGEN:231372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002651 {source="DOID:7708", source="MONDO:Redundant", source="NCIT:C7476"} ! anal Paget disease
is_a: MONDO:0002941 {source="DOID:7708", source="MONDO:Redundant", source="NCIT:C7476"} ! anal margin carcinoma
intersection_of: MONDO:0021165 ! Paget disease
intersection_of: disease_has_location UBERON:0012336 ! perianal skin

[Term]
id: MONDO:0004338
name: retinal cell cancer
synonym: "cancer of retinal cell" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of retinal cell" EXACT [MONDO:patterns/cancer]
synonym: "malignant retinal cell neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "retinal cell cancer" EXACT [MONDO:patterns/location]
xref: DOID:771 {source="MONDO:equivalentTo"}
xref: NCIT:C7061 {source="MONDO:relatedTo", source="DOID:771"}
is_a: MONDO:0003072 {source="DOID:771", source="MONDO:Redundant"} ! retinal cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_arises_from_structure UBERON:0003902 ! retinal neural layer

[Term]
id: MONDO:0004339
name: tuberculum sellae meningioma
def: "A meningioma that affects the tuberculum sellae." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma of the tuberculum sellae" EXACT [DOID:7713, NCIT:C5284]
synonym: "meningioma of tuberculum sellae" EXACT [NCIT:C5284]
synonym: "sella turcica neoplasm of tuberculum sellae" EXACT [MONDO:design_pattern]
synonym: "tuberculum sellae sella turcica neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:7713 {source="MONDO:equivalentTo"}
xref: MEDGEN:277835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5284 {source="DOID:7713", source="MONDO:equivalentTo"}
xref: UMLS:C1336829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277835"}
is_a: MONDO:0002720 {source="DOID:7713", source="MONDO:Redundant", source="NCIT:C5284"} ! sella turcica neoplasm
intersection_of: MONDO:0002720 ! sella turcica neoplasm
intersection_of: disease_has_location UBERON:0035298 ! tuberculum sellae

[Term]
id: MONDO:0004340
name: mixed ductal-endocrine carcinoma of pancreas
def: "A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites." [NCIT:P378]
synonym: "mixed ductal-endocrine carcinoma" RELATED [DOID:7716]
synonym: "mixed ductal-endocrine carcinoma of the pancreas" EXACT [NCIT:C6879]
synonym: "mixed ductal-neuroendocrine carcinoma of the pancreas" EXACT [NCIT:C6879]
xref: DOID:7716 {source="MONDO:equivalentTo"}
xref: MEDGEN:266254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6879 {source="MONDO:equivalentTo", source="DOID:7716"}
xref: SCTID:396892009 {source="DOID:7716"}
xref: SCTID:999000 {source="DOID:7716"}
xref: UMLS:C1301048 {source="MEDGEN:266254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005184 {source="DOID:7716"} ! pancreatic ductal adenocarcinoma

[Term]
id: MONDO:0004341
name: colloid carcinoma of the pancreas
def: "An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei." [NCIT:C37214]
synonym: "colloid carcinoma of the pancreas" EXACT [NCIT:C37214]
synonym: "mucinous Noncystic carcinoma" EXACT [NCIT:C37214]
synonym: "pancreatic mucinous Noncystic carcinoma" EXACT [NCIT:C37214]
xref: DOID:7717 {source="MONDO:equivalentTo"}
xref: MEDGEN:232082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37214 {source="MONDO:equivalentTo", source="DOID:7717", source="MONDO:exact-label-match"}
xref: UMLS:C1333081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232082"}
is_a: MONDO:0004957 {source="NCIT:C37214"} ! mucinous adenocarcinoma
is_a: MONDO:0005184 {source="DOID:7717", source="NCIT:C37214"} ! pancreatic ductal adenocarcinoma

[Term]
id: MONDO:0004342
name: obsolete osteoclast-like giant cell neoplasm of the pancreas
is_obsolete: true
replaced_by: MONDO:0006479

[Term]
id: MONDO:0004343
name: pancreatic acinar cell cystadenocarcinoma
def: "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." [NCIT:C5727]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acinar cell cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5727]
synonym: "acinar cell cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:7729]
synonym: "acinar cell cystadenocarcinoma of pancreas" EXACT [NCIT:C5727]
synonym: "acinar cell cystadenocarcinoma of the pancreas" EXACT [NCIT:C5727]
synonym: "pancreatic acinar cell cystadenocarcinoma" EXACT [DOID:7729, NCIT:C5727]
xref: DOID:7729 {source="MONDO:equivalentTo"}
xref: ICDO:8551/3 {source="NCIT:C5727"}
xref: MEDGEN:224757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3874 {source="DOID:7729"}
xref: NCIT:C5727 {source="MONDO:equivalentTo", source="DOID:7729"}
xref: SCTID:128703004 {source="DOID:7729"}
xref: UMLS:C1266087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224757"}
is_a: MONDO:0002867 {source="DOID:7729", source="MONDO:Redundant", source="NCIT:C5727"} ! pancreatic cystadenocarcinoma
is_a: MONDO:0005596 {source="DOID:7729", source="MONDO:0004343/inferred", source="MONDO:Redundant", source="NCIT:C5727/inferred"} ! cystadenocarcinoma
is_a: MONDO:0006346 {source="MONDO:Redundant", source="NCIT:C5727"} ! pancreatic acinar cell carcinoma
intersection_of: MONDO:0005596 ! cystadenocarcinoma
intersection_of: disease_has_location CL:0002064 ! pancreatic acinar cell

[Term]
id: MONDO:0004344
name: childhood malignant hemangiopericytoma
def: "A malignant hemangiopericytoma occurring in childhood." [NCIT:P378]
comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant childhood hemangiopericytoma" EXACT [NCIT:C8090]
synonym: "malignant hemangiopericytoma" BROAD [NCIT:C8090]
synonym: "malignant paediatric hemangiopericytoma" EXACT OMO:0003005 []
synonym: "malignant pediatric hemangiopericytoma" EXACT [DOID:7731, NCIT:C8090]
xref: DOID:7731 {source="MONDO:equivalentTo"}
xref: MEDGEN:124686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8090 {source="DOID:7731", source="MONDO:equivalentTo"}
xref: UMLS:C0279983 {source="MONDO:equivalentTo", source="MEDGEN:124686", source="MONDO:MEDGEN"}
is_a: MONDO:0005094 {source="DOID:7731", source="MONDO:Redundant", source="NCIT:C8090/inferred"} ! hemangiopericytoma
is_a: MONDO:0009330 {source="NCIT:C8090"} ! hemangiopericytoma, malignant

[Term]
id: MONDO:0004345
name: childhood malignant schwannoma
def: "A malignant peripheral nerve sheath tumor occurring in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "childhood malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "childhood malignant neoplasm of the peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "childhood malignant neurilemmoma" EXACT [NCIT:C8094]
synonym: "childhood malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C8094]
synonym: "childhood malignant peripheral nerve sheath tumor" EXACT [NCIT:C8094]
synonym: "childhood malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "childhood malignant schwannoma" EXACT [NCIT:C8094]
synonym: "childhood malignant tumor of peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "childhood malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "childhood malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "childhood malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "childhood MPNST" EXACT [NCIT:C8094]
synonym: "childhood neurofibrosarcoma" EXACT [NCIT:C8094]
synonym: "childhood neurogenic sarcoma" EXACT [NCIT:C8094]
synonym: "malignant peripheral nerve sheath tumor" BROAD [NCIT:C8094]
synonym: "malignant peripheral nerve sheath tumour" BROAD OMO:0003005 []
synonym: "paediatric malignant neoplasm of peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "paediatric malignant neoplasm of the peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "paediatric malignant neurilemmoma" EXACT OMO:0003005 []
synonym: "paediatric malignant peripheral nerve sheath neoplasm" EXACT OMO:0003005 []
synonym: "paediatric malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "paediatric malignant schwannoma" EXACT OMO:0003005 []
synonym: "paediatric malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "paediatric malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "paediatric MPNST" EXACT OMO:0003005 []
synonym: "pediatric malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "pediatric malignant neoplasm of the peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "pediatric malignant neurilemmoma" EXACT [NCIT:C8094]
synonym: "pediatric malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C8094]
synonym: "pediatric malignant peripheral nerve sheath tumor" EXACT [NCIT:C8094]
synonym: "pediatric malignant schwannoma" EXACT [NCIT:C8094]
synonym: "pediatric malignant tumor of peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "pediatric malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C8094]
synonym: "pediatric MPNST" EXACT [DOID:7732, NCIT:C8094]
xref: DOID:7732 {source="MONDO:equivalentTo"}
xref: MEDGEN:83582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8094 {source="DOID:7732", source="MONDO:equivalentTo"}
xref: UMLS:C0279987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83582"}
is_a: MONDO:0006517 {source="NCIT:C8094"} ! childhood malignant neoplasm
is_a: MONDO:0017827 {source="DOID:7732", source="NCIT:C8094"} ! malignant peripheral nerve sheath tumor

[Term]
id: MONDO:0004346
name: signet ring cell intrahepatic cholangiocarcinoma
def: "An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells." [NCIT:C41619]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "signet Ring cell intrahepatic cholangiocarcinoma" EXACT [NCIT:C41619]
xref: DOID:7733 {source="MONDO:equivalentTo"}
xref: MEDGEN:276815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41619 {source="DOID:7733", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519321 {source="MEDGEN:276815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003210 {source="DOID:7733", source="MONDO:Redundant", source="NCIT:C41619"} ! intrahepatic cholangiocarcinoma
is_a: MONDO:0005092 {source="MONDO:Redundant", source="NCIT:C41619"} ! signet ring cell carcinoma
intersection_of: MONDO:0003210 ! intrahepatic cholangiocarcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma

[Term]
id: MONDO:0004347
name: obsolete MONDO:0004347
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018523

[Term]
id: MONDO:0004348
name: retinal telangiectasia
comment: Consider obsoleting and ceding to HPO
subset: otar {source="MONDO:OTAR"}
xref: DOID:7736 {source="MONDO:equivalentTo"}
xref: HP:0007763 {source="MONDO:otherHierarchy"}
xref: ICD9:362.15 {source="MONDO:equivalentTo", source="DOID:7736", source="MONDO:i2s"}
xref: MEDGEN:57598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:84884003 {source="MONDO:equivalentTo", source="DOID:7736"}
xref: UMLS:C0154835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57598"}
is_a: MONDO:0002311 {source="DOID:7736"} ! retinal vascular disorder

[Term]
id: MONDO:0004349
name: retina lymphoma
def: "A lymphoma that involves the retina." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoma of retina" EXACT [NCIT:C4365]
synonym: "lymphoma of the retina" EXACT [NCIT:C4365]
synonym: "primary retinal lymphoma" EXACT [NCIT:C4365]
synonym: "retina lymphoma" EXACT [MONDO:patterns/location]
synonym: "retinal lymphoma" EXACT [DOID:774, NCIT:C4365]
xref: DOID:774 {source="MONDO:equivalentTo"}
xref: ICD9:198.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4365 {source="MONDO:equivalentTo", source="DOID:774"}
xref: SCTID:232075002 {source="MONDO:equivalentTo", source="DOID:774"}
xref: UMLS:C0339556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83291"}
is_a: MONDO:0003072 {source="DOID:774", source="MONDO:Redundant", source="NCIT:C4365"} ! retinal cancer
is_a: MONDO:0004034 {source="DOID:774", source="MONDO:Redundant", source="NCIT:C4365/inferred"} ! eye lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0004350
name: pediatric extraocular retinoblastoma
def: "Retinoblastoma during childhood that has spread beyond the eye." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood extraocular retinoblastoma" EXACT [DOID:7747, NCIT:C9048]
synonym: "childhood metastatic retinoblastoma" EXACT [NCIT:C9048]
synonym: "extraocular retinoblastoma" BROAD [NCIT:C9048]
synonym: "extraocular retinoblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pediatric extraocular retinoblastoma" EXACT [MONDO:patterns/childhood, NCIT:C9048]
xref: DOID:7747 {source="MONDO:equivalentTo"}
xref: MEDGEN:230837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9048 {source="MONDO:equivalentTo", source="DOID:7747"}
xref: UMLS:C1321870 {source="MEDGEN:230837", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003078 {source="DOID:7747", source="MONDO:Redundant", source="NCIT:C9048"} ! extraocular retinoblastoma
is_a: MONDO:0006517 {source="NCIT:C9048"} ! childhood malignant neoplasm
intersection_of: MONDO:0003078 ! extraocular retinoblastoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004351
name: intraocular lymphoma
alt_id: MONDO:0017206
def: "A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters." [NCIT:C9184]
subset: gard_rare {source="GARD:21063", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279904"}
subset: orphanet_rare {source="Orphanet:279904"}
subset: rare
synonym: "intraocular lymphoma" EXACT [NCIT:C9184]
synonym: "PIOL" EXACT ABBREVIATION [Orphanet:279904]
synonym: "primary intraocular lymphoma" EXACT [DOID:775, NCIT:C9184]
synonym: "primary intraocular non-Hodgkin's lymphoma" EXACT [Orphanet:279904]
xref: DOID:775 {source="MONDO:equivalentTo"}
xref: GARD:21063 {source="MONDO:GARD"}
xref: ICD10CM:C85\,7 {source="Orphanet:279904"}
xref: ICD9:200.50 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:79344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D064090 {source="DOID:775", source="MONDO:equivalentTo"}
xref: NCIT:C9184 {source="DOID:775", source="MONDO:equivalentTo"}
xref: Orphanet:279904 {source="MONDO:equivalentTo"}
xref: SCTID:420788006 {source="MONDO:equivalentTo"}
xref: UMLS:C0281658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79344"}
is_a: MONDO:0004034 {source="DOID:775", source="NCIT:C9184"} ! eye lymphoma
is_a: MONDO:0017207 {source="Orphanet:279904"} ! primary organ-specific lymphoma
is_a: MONDO:0021220 {source="Orphanet:279904"} ! eye neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare

[Term]
id: MONDO:0004352
name: adult brain ependymoma
def: "An ependymoma of the brain occurring in adults." [NCIT:C9372]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult brain ependymoma" EXACT [NCIT:C9372]
synonym: "brain ependymoma" BROAD [NCIT:C9372]
xref: DOID:7750 {source="MONDO:equivalentTo"}
xref: MEDGEN:231033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9372 {source="MONDO:equivalentTo", source="DOID:7750"}
xref: UMLS:C1332186 {source="MEDGEN:231033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004245 {source="DOID:7750", source="NCIT:C9372"} ! ependymal tumor of brain

[Term]
id: MONDO:0004353
name: extrahepatic biliary papillomatosis
def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts." [NCIT:P378]
synonym: "extrahepatic bile duct papillary neoplasm" EXACT [NCIT:C7124]
synonym: "extrahepatic bile duct papillomatosis" EXACT [NCIT:C7124]
synonym: "extrahepatic biliary papillomatosis" EXACT [NCIT:C7124]
xref: DOID:7752 {source="MONDO:equivalentTo"}
xref: MEDGEN:232484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7124 {source="DOID:7752", source="MONDO:equivalentTo"}
xref: UMLS:C1333511 {source="MEDGEN:232484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003455 {source="DOID:7752", source="NCIT:C7124"} ! bile duct papillary neoplasm
relationship: has_characteristic PATO:0002132 ! neoplastic, non-invasive

[Term]
id: MONDO:0004354
name: neonatal leukemia
def: "Leukemia that occurs during the neonatal period." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neonatal leukemia" EXACT [DOID:7756, NCIT:C3845]
xref: DOID:7756 {source="MONDO:equivalentTo"}
xref: MEDGEN:116003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3845 {source="DOID:7756", source="MONDO:equivalentTo"}
xref: UMLS:C0235813 {source="MEDGEN:116003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004355 {source="DOID:7756", source="NCIT:C3845/inferred"} ! childhood leukemia

[Term]
id: MONDO:0004355
name: childhood leukemia
def: "An acute or chronic leukemia that occurs during childhood." [NCIT:C4989]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood leukaemia (disease)" EXACT OMO:0003005 []
synonym: "childhood leukemia" EXACT [NCIT:C4989]
synonym: "childhood leukemia (disease)" EXACT []
synonym: "leukaemia" BROAD OMO:0003005 []
synonym: "leukaemia (disease) of childhood" EXACT OMO:0003005 []
synonym: "leukemia" BROAD [NCIT:C4989]
synonym: "leukemia (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "paediatric leukaemia (disease)" EXACT OMO:0003005 []
synonym: "pediatric leukemia (disease)" EXACT [MONDO:patterns/childhood]
xref: DOID:7757 {source="MONDO:equivalentTo"}
xref: MEDGEN:234132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100002 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4989 {source="DOID:7757", source="MONDO:equivalentTo"}
xref: UMLS:C1332977 {source="MEDGEN:234132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005059 {source="DOID:7757", source="MONDO:Redundant", source="NCIT:C4989"} ! leukemia
is_a: MONDO:0006517 {source="NCIT:C4989"} ! childhood malignant neoplasm
intersection_of: MONDO:0005059 ! leukemia
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004356
name: childhood multilocular cystic kidney neoplasm
def: "A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present." [NCIT:P378]
synonym: "benign multilocular cystic renal tumor" RELATED [DOID:7762]
synonym: "benign multilocular cystic renal tumour" RELATED OMO:0003005 []
synonym: "childhood multilocular cystic kidney neoplasm" EXACT [NCIT:C6566]
synonym: "childhood multilocular cystic kidney tumor" EXACT [NCIT:C6566]
synonym: "childhood multilocular cystic kidney tumour" EXACT OMO:0003005 []
synonym: "childhood multilocular cystic renal neoplasm" EXACT [NCIT:C6566]
synonym: "childhood multilocular cystic renal tumor" EXACT [NCIT:C6566]
synonym: "childhood multilocular cystic renal tumour" EXACT OMO:0003005 []
synonym: "paediatric multilocular cystic kidney neoplasm" EXACT OMO:0003005 []
synonym: "paediatric multilocular cystic kidney tumour" EXACT OMO:0003005 []
synonym: "paediatric multilocular cystic renal neoplasm" EXACT OMO:0003005 []
synonym: "paediatric multilocular cystic renal tumour" EXACT OMO:0003005 []
synonym: "pediatric multilocular cystic kidney neoplasm" EXACT [NCIT:C6566]
synonym: "pediatric multilocular cystic kidney tumor" EXACT [NCIT:C6566]
synonym: "pediatric multilocular cystic renal neoplasm" EXACT [NCIT:C6566]
synonym: "pediatric multilocular cystic renal tumor" EXACT [DOID:7762, NCIT:C6566]
xref: DOID:7762 {source="MONDO:equivalentTo"}
xref: MEDGEN:232064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6566 {source="MONDO:equivalentTo", source="DOID:7762"}
xref: UMLS:C1332983 {source="MEDGEN:232064", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002730 {source="NCIT:C6566"} ! childhood kidney neoplasm

[Term]
id: MONDO:0004357
name: carcinoma of supraglottis
def: "A carcinoma of the larynx that arises from the supraglottic area." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of supraglottis" EXACT [NCIT:C5973]
synonym: "cancer of the supraglottis" EXACT [NCIT:C5973]
synonym: "carcinoma of supraglottic part of larynx" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of supraglottis" EXACT [NCIT:C5973]
synonym: "carcinoma of the supraglottis" EXACT [NCIT:C5973]
synonym: "supraglottic cancer" EXACT [NCIT:C5973]
synonym: "supraglottic carcinoma" EXACT [DOID:7763, NCIT:C5973]
synonym: "supraglottic part of larynx carcinoma" EXACT [MONDO:patterns/location]
synonym: "supraglottic throat cancer" EXACT [NCIT:C5973]
synonym: "supraglottis carcinoma" EXACT [NCIT:C5973]
xref: DOID:7763 {source="MONDO:equivalentTo"}
xref: MEDGEN:266243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5973 {source="DOID:7763", source="MONDO:equivalentTo"}
xref: SCTID:372105009 {source="DOID:7763", source="MONDO:equivalentTo"}
xref: UMLS:C1299240 {source="MEDGEN:266243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001724 {source="DOID:7763", source="MONDO:Redundant", source="NCIT:C5973"} ! supraglottis cancer
is_a: MONDO:0002358 {source="MONDO:Redundant", source="NCIT:C5973"} ! laryngeal carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0036263 ! supraglottic part of larynx

[Term]
id: MONDO:0004358
name: subglottis carcinoma
def: "A carcinoma of the larynx that arises from the subglottic area." [NCIT:P378]
synonym: "cancer of subglottis" BROAD [NCIT:C5972]
synonym: "cancer of the subglottis" BROAD [NCIT:C5972]
synonym: "carcinoma of subglottis" EXACT [MONDO:patterns/carcinoma, NCIT:C5972]
synonym: "carcinoma of the subglottis" EXACT [NCIT:C5972]
synonym: "subglottic cancer" BROAD [NCIT:C5972]
synonym: "subglottic carcinoma" EXACT [DOID:7764, NCIT:C5972]
synonym: "subglottic throat cancer" BROAD [NCIT:C5972]
synonym: "subglottis carcinoma" EXACT [MONDO:patterns/location, NCIT:C5972]
xref: DOID:7764 {source="MONDO:equivalentTo"}
xref: MEDGEN:226968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5972 {source="DOID:7764", source="MONDO:equivalentTo"}
xref: SCTID:372104008 {source="DOID:7764", source="MONDO:equivalentTo"}
xref: UMLS:C1299239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226968"}
is_a: MONDO:0001293 {source="DOID:7764", source="MONDO:Redundant", source="NCIT:C5972"} ! subglottis cancer
is_a: MONDO:0002358 {source="MONDO:Redundant", source="NCIT:C5972"} ! laryngeal carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0036068 ! subglottis

[Term]
id: MONDO:0004359
name: delusional disorder
def: "A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s)." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:778 {source="MONDO:equivalentTo"}
xref: ICD10CM:F22 {source="DOID:778"}
xref: ICD10WHO:F22.0 {source="MONDO:equivalentTo"}
xref: ICD9:297.1 {source="DOID:778", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:8276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012563 {source="DOID:778", source="MONDO:relatedTo"}
xref: NCIT:C94379 {source="DOID:778", source="MONDO:equivalentTo"}
xref: SCTID:192330005 {source="DOID:778"}
xref: SCTID:48500005 {source="DOID:778", source="MONDO:equivalentTo"}
xref: UMLS:C0011251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8276"}
is_a: MONDO:0005485 {source="DOID:778", source="https://orcid.org/0000-0002-6601-2165"} ! psychotic disorder
relationship: realized_in MFOMD:0000101 ! delusion

[Term]
id: MONDO:0004360
name: breast extraskeletal osteosarcoma
def: "An osteosarcoma arising from the breast tissue." [NCIT:C5189]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast extraskeletal osteosarcoma" EXACT [NCIT:C5189]
synonym: "breast osteosarcoma" EXACT [NCIT:C5189]
synonym: "breast osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteogenic breast sarcoma" EXACT [NCIT:C5189]
synonym: "osteogenic sarcoma of breast" EXACT [DOID:7787, NCIT:C5189]
synonym: "osteogenic sarcoma of the breast" EXACT [NCIT:C5189]
synonym: "osteosarcoma of breast" EXACT [NCIT:C5189]
synonym: "osteosarcoma of the breast" EXACT [NCIT:C5189]
xref: DOID:7787 {source="MONDO:equivalentTo"}
xref: MEDGEN:235414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5189 {source="DOID:7787", source="MONDO:equivalentTo"}
xref: UMLS:C1335149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235414"}
is_a: MONDO:0002490 {source="DOID:7787", source="MONDO:Redundant", source="NCIT:C5189"} ! breast sarcoma
is_a: MONDO:0002621 {source="NCIT:C5189"} ! extraosseous osteosarcoma
is_a: MONDO:0009807 {source="DOID:7787", source="MONDO:0004360/inferred", source="MONDO:Entailed", source="NCIT:C5189/inferred"} ! osteosarcoma
intersection_of: MONDO:0009807 ! osteosarcoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0004361
name: adult spinal cord ependymoma
def: "An ependymoma of the spinal cord occurring in adults." [NCIT:C27399]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult spinal cord ependymoma" EXACT [NCIT:C27399]
synonym: "spinal cord ependymoma" BROAD [NCIT:C27399]
synonym: "spinal cord ependymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7788 {source="MONDO:equivalentTo"}
xref: MEDGEN:231359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27399 {source="DOID:7788", source="MONDO:equivalentTo"}
xref: UMLS:C1332215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231359"}
is_a: MONDO:0003473 {source="DOID:7788", source="MONDO:Redundant", source="NCIT:C27399"} ! spinal cord ependymoma
intersection_of: MONDO:0003473 ! spinal cord ependymoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004362
name: obsolete placenta disease
is_obsolete: true
replaced_by: MONDO:0005917

[Term]
id: MONDO:0004363
name: adult spinal cord glioblastoma
def: "A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult spinal cord glioblastoma" EXACT [DOID:7806, NCIT:C27183]
synonym: "adult spinal cord glioblastoma multiforme" EXACT [DOID:7806]
synonym: "glioblastoma multiforme of spinal cord" EXACT [DOID:7806]
xref: DOID:7806 {source="MONDO:equivalentTo"}
xref: MEDGEN:107849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27183 {source="MONDO:equivalentTo", source="DOID:7806"}
xref: SCTID:276829003 {source="MONDO:equivalentTo", source="DOID:7806"}
xref: UMLS:C0559185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107849"}
is_a: MONDO:0020690 {source="NCIT:C27183"} ! adult glioblastoma
intersection_of: MONDO:0018177 ! glioblastoma
intersection_of: disease_has_location UBERON:0002240 ! spinal cord
intersection_of: has_characteristic HP:0003581 ! Adult onset
relationship: excluded_subClassOf MONDO:0002542 {source="DOID:7806", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord glioma

[Term]
id: MONDO:0004364
name: choroid necrotic melanoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "choroid necrotic melanoma" EXACT [NCIT:C6865]
synonym: "necrotic choroid melanoma" EXACT [DOID:7807, NCIT:C6865]
synonym: "necrotic melanoma of choroid" EXACT [NCIT:C6865]
synonym: "necrotic melanoma of the choroid" EXACT [NCIT:C6865]
xref: DOID:7807 {source="MONDO:equivalentTo"}
xref: MEDGEN:232362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6865 {source="MONDO:equivalentTo", source="DOID:7807"}
xref: UMLS:C1333026 {source="MEDGEN:232362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003878 {source="DOID:7807", source="NCIT:C6865"} ! malignant choroid melanoma
is_a: MONDO:0004365 {source="DOID:7807", source="NCIT:C6865"} ! necrotic uveal melanoma
intersection_of: MONDO:0003878 {source="NCIT:C6865"} ! malignant choroid melanoma
intersection_of: MONDO:0004365 {source="NCIT:C6865"} ! necrotic uveal melanoma

[Term]
id: MONDO:0004365
name: necrotic uveal melanoma
def: "A uveal melanoma characterized by the presence of tumor cell necrosis." [NCIT:C7990]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7808 {source="MONDO:equivalentTo"}
xref: MEDGEN:1669717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7990 {source="MONDO:equivalentTo", source="DOID:7808"}
xref: UMLS:C0279695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1669717"}
is_a: MONDO:0006486 {source="DOID:7808", source="NCIT:C7990"} ! uveal melanoma

[Term]
id: MONDO:0004366
name: mixed astrocytoma-ependymoma-oligodendroglioma
def: "A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components." [NCIT:C8272]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mixed astrocytoma-ependymoma-oligodendroglioma" EXACT [NCIT:C8272]
xref: DOID:7817 {source="MONDO:equivalentTo"}
xref: MEDGEN:79184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8272 {source="MONDO:equivalentTo", source="DOID:7817", source="MONDO:exact-label-match"}
xref: UMLS:C0280792 {source="MEDGEN:79184", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003268 {source="DOID:7817", source="NCIT:C8272"} ! mixed glioma

[Term]
id: MONDO:0004367
name: petroclival meningioma
def: "A meningioma that affects the petroclival region." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7818 {source="MONDO:equivalentTo"}
xref: MEDGEN:277511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5278 {source="MONDO:equivalentTo", source="DOID:7818"}
xref: UMLS:C1335395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277511"}
is_a: MONDO:0002998 {source="DOID:7818", source="NCIT:C5278"} ! skull base meningioma

[Term]
id: MONDO:0004368
name: sphenoorbital meningioma
def: "A meningioma that affects the sphenoorbital region." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7819 {source="MONDO:equivalentTo"}
xref: MEDGEN:233458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5285 {source="MONDO:equivalentTo", source="DOID:7819"}
xref: UMLS:C1336040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233458"}
is_a: MONDO:0002998 {source="DOID:7819", source="NCIT:C5285"} ! skull base meningioma

[Term]
id: MONDO:0004369
name: renal infectious disease
xref: DOID:782 {source="MONDO:equivalentTo"}
xref: ICD10CM:N15.9 {source="DOID:782"}
xref: ICD9:590 {source="DOID:782"}
xref: ICD9:590.9 {source="DOID:782"}
xref: MEDGEN:507844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:129128006 {source="DOID:782"}
xref: SCTID:155865002 {source="DOID:782"}
xref: SCTID:197785002 {source="DOID:782"}
xref: SCTID:266618004 {source="DOID:782"}
xref: UMLS:C0021313 {source="MEDGEN:507844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:782"} ! kidney disorder

[Term]
id: MONDO:0004370
name: sphenocavernous meningioma
def: "A meningioma that affects the sphenocavernous region." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7820 {source="MONDO:equivalentTo"}
xref: MEDGEN:234801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5313 {source="DOID:7820", source="MONDO:equivalentTo"}
xref: UMLS:C1336036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234801"}
is_a: MONDO:0002998 {source="DOID:7820", source="NCIT:C5313"} ! skull base meningioma

[Term]
id: MONDO:0004371
name: spinal multifocal clear cell meningioma
def: "A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells." [NCIT:C5287]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "multifocal clear cell meningioma of spine" EXACT [DOID:7824, NCIT:C5287]
synonym: "multifocal clear cell meningioma of the spine" RELATED [NCIT:C5287]
synonym: "spinal multifocal clear cell meningioma" EXACT [NCIT:C5287]
xref: DOID:7824 {source="MONDO:equivalentTo"}
xref: MEDGEN:277661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5287 {source="NCIT:C5287", source="MONDO:equivalentTo", source="DOID:7824"}
xref: UMLS:C1336051 {source="MEDGEN:277661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002918 {source="NCIT:C5287"} ! clear cell meningioma

[Term]
id: MONDO:0004372
name: chronic toxic polyneuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chronic toxic polyneuropathy" EXACT [NCIT:C35603]
xref: DOID:7825 {source="MONDO:equivalentTo"}
xref: MEDGEN:234149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35603 {source="DOID:7825", source="MONDO:equivalentTo"}
xref: UMLS:C1333048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234149"}
is_a: MONDO:0003335 {source="DOID:7825", source="NCIT:C35603"} ! chronic polyneuropathy

[Term]
id: MONDO:0004373
name: adult papillary meningioma
def: "A papillary meningioma occurring in adults." [NCIT:C8293]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult papillary meningioma" EXACT [NCIT:C8293]
synonym: "papillary meningioma" BROAD [NCIT:C8293]
synonym: "papillary meningioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7826 {source="MONDO:equivalentTo"}
xref: MEDGEN:76256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8293 {source="MONDO:equivalentTo", source="DOID:7826"}
xref: UMLS:C0281334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76256"}
is_a: MONDO:0003262 {source="DOID:7826"} ! rhabdoid meningioma
is_a: MONDO:0021088 {source="MONDO:Redundant", source="NCIT:C8293"} ! papillary meningioma
intersection_of: MONDO:0021088 ! papillary meningioma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004374
name: adult extraskeletal osteosarcoma
def: "An osteosarcoma arising from the soft tissue, and occurring in adults." [NCIT:C7925]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult extraosseous osteosarcoma" EXACT [NCIT:C7925]
synonym: "adult extraskeletal osteosarcoma" EXACT [NCIT:C7925]
synonym: "extraosseous osteosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "extraskeletal osteosarcoma" BROAD [NCIT:C7925]
xref: DOID:7827 {source="MONDO:equivalentTo"}
xref: MEDGEN:83016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7925 {source="MONDO:equivalentTo", source="DOID:7827"}
xref: UMLS:C0278985 {source="MEDGEN:83016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002129 {source="DOID:7827", source="MONDO:Redundant"} ! bone cancer
is_a: MONDO:0002621 {source="MONDO:Redundant", source="NCIT:C7925"} ! extraosseous osteosarcoma
intersection_of: MONDO:0002621 ! extraosseous osteosarcoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004375
name: end stage renal failure
def: "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min." [NCIT:C9439]
synonym: "chronic kidney disease, stage 5" EXACT [NCIT:C9439]
synonym: "disease (ESRD), end stage renal" EXACT [NCIT:C9439]
synonym: "end stage kidney disease" EXACT [NCIT:C9439]
synonym: "end stage kidney failure" EXACT [NCIT:C9439]
synonym: "end stage renal disease" EXACT [DOID:783]
synonym: "end stage renal disease (ESRD)" EXACT [NCIT:C9439]
synonym: "ESRD" EXACT ABBREVIATION [NCIT:C9439]
synonym: "ESRD, end stage renal disease" EXACT [NCIT:C9439]
synonym: "renal disease (ESRD), end stage" EXACT [NCIT:C9439]
synonym: "renal disease, end stage" EXACT [NCIT:C9439]
xref: DOID:783 {source="MONDO:equivalentTo"}
xref: ICD10CM:N18.5 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-9612-7791"}
xref: ICD9:585.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:384526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9439 {source="MONDO:equivalentTo"}
xref: SCTID:46177005 {source="MONDO:equivalentTo"}
xref: UMLS:C2316810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384526"}
is_a: MONDO:0005300 {source="DOID:783", source="NCIT:C9439"} ! chronic kidney disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6003" xsd:anyURI

[Term]
id: MONDO:0004376
name: infiltrating nipple syringomatous adenoma
def: "An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported." [NCIT:P378]
synonym: "infiltrating nipple syringomatous adenoma" EXACT [NCIT:C40363]
synonym: "nipple syringomatous adenoma" EXACT [NCIT:C40363]
xref: DOID:7839 {source="MONDO:equivalentTo"}
xref: MEDGEN:825590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40363 {source="MONDO:equivalentTo", source="DOID:7839"}
xref: UMLS:C3839745 {source="MONDO:equivalentTo", source="MEDGEN:825590", source="MONDO:MEDGEN"}
is_a: MONDO:0002482 {source="DOID:7839", source="NCIT:C40363"} ! nipple neoplasm

[Term]
id: MONDO:0004377
name: pancreatic non-functioning delta cell tumor
def: "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome." [NCIT:C28333]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "non-functional pancreatic Delta cell NET" EXACT [NCIT:C28333]
synonym: "non-functional pancreatic Delta cell neuroendocrine tumor" EXACT [NCIT:C28333]
synonym: "non-functional pancreatic Delta cell neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "non-functioning pancreatic Delta cell neoplasm" EXACT [NCIT:C28333]
synonym: "non-functioning pancreatic Delta cell tumor" EXACT [NCIT:C28333]
synonym: "non-functioning pancreatic Delta cell tumour" EXACT OMO:0003005 []
synonym: "nonfunctional Pancreatic Delta cell Neuroendocrine tumor" EXACT [NCIT:C28333]
synonym: "nonfunctional Pancreatic Delta cell Neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:7840 {source="MONDO:equivalentTo"}
xref: MEDGEN:235453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C28333 {source="DOID:7840", source="MONDO:equivalentTo"}
xref: UMLS:C1335311 {source="MEDGEN:235453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002994 {source="DOID:7840", source="MONDO:Redundant", source="NCIT:C28333"} ! pancreatic delta cell neuroendocrine tumor
is_a: MONDO:0004334 {source="DOID:7840", source="MONDO:Redundant", source="NCIT:C28333"} ! non-functional pancreatic neuroendocrine tumor
intersection_of: MONDO:0002994 {source="NCIT:C28333"} ! pancreatic delta cell neuroendocrine tumor
intersection_of: MONDO:0004334 {source="NCIT:C28333"} ! non-functional pancreatic neuroendocrine tumor

[Term]
id: MONDO:0004378
name: pediatric cerebral ependymoblastoma
def: "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6957]
synonym: "childhood cerebral embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 []
synonym: "childhood cerebral ependymoblastoma" EXACT [NCIT:C6957]
xref: DOID:7841 {source="MONDO:equivalentTo"}
xref: MEDGEN:234125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6957 {source="DOID:7841", source="MONDO:equivalentTo"}
xref: UMLS:C1332962 {source="MONDO:equivalentTo", source="MEDGEN:234125", source="MONDO:MEDGEN"}
is_a: MONDO:0016715 {source="DOID:7841", source="NCIT:C6957/inferred"} ! ependymoblastoma
intersection_of: MONDO:0016715 ! ependymoblastoma
intersection_of: disease_has_location UBERON:0001869 ! cerebral hemisphere
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004379
name: female breast carcinoma
def: "A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females." [NCIT:C2918]
subset: otar {source="MONDO:OTAR"}
synonym: "breast carcinoma, female" EXACT [NCIT:C2918]
synonym: "carcinoma of female breast" EXACT [DOID:7843, NCIT:C2918]
synonym: "carcinoma of the female breast" EXACT [NCIT:C2918]
synonym: "female breast cancer" EXACT [MONDO:0000398, NCIT:C2918]
synonym: "female breast carcinoma" EXACT [NCIT:C2918]
synonym: "mammary carcinoma of female breast" EXACT [DOID:7843, NCIT:C2918]
synonym: "mammary carcinoma of the female breast" EXACT [NCIT:C2918]
xref: DOID:0050671 {source="MONDO:equivalentTo"}
xref: DOID:7843 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: ICD9:174.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:174.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:40099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2918 {source="DOID:7843", source="MONDO:equivalentTo"}
xref: SCTID:372064008 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:447782002 {source="MONDO:equivalentTo"}
xref: UMLS:C0007104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40099"}
is_a: MONDO:0004989 {source="DOID:7843", source="NCIT:C2918"} ! breast carcinoma
is_a: MONDO:0007254 {source="DOID:0050671", source="DOID:7843/inferred", source="MONDO:0004379/inferred", source="MONDO:Redundant", source="NCIT:C2918/inferred"} ! breast cancer

[Term]
id: MONDO:0004380
name: dendritic cell sarcoma
def: "A sarcoma that involves the dendritic cell." [MONDO:patterns/location]
comment: Editor note: we place the NCIT class here even though it is NOS
subset: gard_rare {source="GARD:19082", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:86903"}
subset: orphanet_rare {source="Orphanet:86903"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dendritic cell sarcoma" EXACT [DOID:7849, MONDO:patterns/location]
synonym: "dendritic cell sarcoma, NOS" RELATED EXCLUDE [NCIT:C27260]
synonym: "dendritic cell sarcoma, not otherwise specified" RELATED EXCLUDE [NCIT:C27260]
synonym: "dendritic cell sarcoma, not otherwise specified (morphologic abnormality)" RELATED EXCLUDE [DOID:7849]
synonym: "dendritic cell tumor, NOS" RELATED EXCLUDE [NCIT:C27260]
synonym: "dendritic cell tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C27260]
synonym: "follicular dendritic cell sarcoma" RELATED [DOID:7849]
synonym: "sarcoma of dendritic cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:7849 {source="MONDO:equivalentTo"}
xref: GARD:19082 {source="MONDO:GARD"}
xref: ICD10CM:C96.4 {source="Orphanet:86903/ntbt", source="Orphanet:86903"}
xref: MEDGEN:226984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27260 {source="MONDO:equivalentTo", source="DOID:7849"}
xref: NCIT:C9294 {source="ONCOTREE:DCS"}
xref: ONCOTREE:DCS {source="MONDO:equivalentTo"}
xref: Orphanet:86903 {source="MONDO:equivalentTo"}
xref: SCTID:128815007 {source="DOID:7849"}
xref: SCTID:397355008 {source="DOID:7849"}
xref: SCTID:446643000 {source="MONDO:equivalentTo"}
xref: UMLS:C1301364 {source="MEDGEN:226984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004805 {source="DOID:7849", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder
is_a: MONDO:0005089 {source="DOID:7849", source="MONDO:Entailed", source="MONDO:Redundant"} ! sarcoma
is_a: MONDO:0006247 {source="DOID:7849", source="NCIT:C27260"} ! histiocytic and dendritic cell neoplasm
is_a: MONDO:0020082 {source="Orphanet:86903"} ! dendritic cell tumor
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location CL:0000451 ! dendritic cell
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7175" xsd:anyURI

[Term]
id: MONDO:0004381
name: pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia
def: "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures." [NCIT:C41249]
synonym: "pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia" EXACT [NCIT:C41249]
synonym: "pancreatic intraductal papillary-mucinous adenoma" EXACT [NCIT:C41249]
synonym: "pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia" EXACT [NCIT:C41249]
xref: DOID:7851 {source="MONDO:equivalentTo"}
xref: ICDO:8453/0 {source="NCIT:C41249"}
xref: MEDGEN:274118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41249 {source="DOID:7851", source="MONDO:equivalentTo"}
xref: SCTID:473418001 {source="DOID:7851", source="MONDO:equivalentTo"}
xref: UMLS:C1518868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274118"}
is_a: MONDO:0004286 {source="DOID:7851", source="NCIT:C41249"} ! pancreatic intraductal papillary-mucinous neoplasm
relationship: has_characteristic PATO:0002132 ! neoplastic, non-invasive

[Term]
id: MONDO:0004382
name: laryngeal disorder
def: "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of larynx" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of larynx" EXACT []
synonym: "disorder of larynx" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the larynx" EXACT []
synonym: "laryngeal disease" EXACT [NCIT:C26810]
synonym: "laryngeal disorder" EXACT [NCIT:C26810]
synonym: "larynx disease" EXACT [MONDO:patterns/location]
synonym: "larynx disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:786 {source="MONDO:equivalentTo"}
xref: EFO:0009673 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J38.7 {source="DOID:786"}
xref: ICD10CM:S12.8 {source="DOID:786", source="MONDO:unrelated"}
xref: ICD9:478.70 {source="DOID:786"}
xref: MEDGEN:7268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007818 {source="DOID:786", source="MONDO:equivalentTo"}
xref: NCIT:C26810 {source="DOID:786", source="MONDO:equivalentTo"}
xref: SCTID:195863001 {source="DOID:786"}
xref: SCTID:60600009 {source="DOID:786", source="MONDO:equivalentTo"}
xref: UMLS:C0023051 {source="MEDGEN:7268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004867 {source="DOID:786"} ! upper respiratory tract disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0004383
name: adult central nervous system germinoma
def: "A central nervous system germinoma that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult central nervous system germinoma" EXACT [NCIT:C5792]
synonym: "adult CNS germinoma" EXACT [NCIT:C5792]
synonym: "central nervous system germinoma" BROAD [NCIT:C5792]
synonym: "central nervous system germinoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "germinoma of adult central nervous system" EXACT [NCIT:C5792]
synonym: "germinoma of adult CNS" EXACT [NCIT:C5792]
synonym: "germinoma of the adult central nervous system" EXACT [DOID:7867, NCIT:C5792]
synonym: "germinoma of the adult CNS" EXACT [NCIT:C5792]
xref: DOID:7867 {source="MONDO:equivalentTo"}
xref: MEDGEN:234581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5792 {source="DOID:7867", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1370504 {source="MEDGEN:234581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002999 {source="DOID:7867", source="MONDO:Redundant", source="NCIT:C5792"} ! central nervous system germinoma
is_a: MONDO:0003405 {source="MONDO:Redundant", source="NCIT:C5792"} ! adult central nervous system germ cell tumor
intersection_of: MONDO:0002999 ! central nervous system germinoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004384
name: maxillary sinus inverted papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:C6840]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "inverted papilloma of maxillary sinus" EXACT [NCIT:C6840]
synonym: "inverted papilloma of the maxillary sinus" EXACT [DOID:7868, NCIT:C6840]
synonym: "maxillary sinus inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6840]
xref: DOID:7868 {source="MONDO:equivalentTo"}
xref: MEDGEN:277347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6840 {source="MONDO:equivalentTo", source="DOID:7868"}
xref: UMLS:C1334645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277347"}
is_a: MONDO:0002537 {source="DOID:7868", source="MONDO:Redundant", source="NCIT:C6840/inferred"} ! inverted papilloma
is_a: MONDO:0004457 {source="NCIT:C6840"} ! maxillary sinus Schneiderian papilloma
is_a: MONDO:0006850 {source="DOID:7868", source="MONDO:Redundant", source="NCIT:C6840/inferred"} ! maxillary sinus neoplasm
intersection_of: MONDO:0002537 ! inverted papilloma
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0004385
name: adult xanthogranuloma
def: "A xanthogranuloma that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult xanthogranuloma" EXACT [NCIT:C27514]
synonym: "xanthogranuloma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7875 {source="MONDO:equivalentTo"}
xref: MEDGEN:231363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27514 {source="DOID:7875", source="MONDO:equivalentTo"}
xref: UMLS:C1332220 {source="MEDGEN:231363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015531 {source="DOID:7875", source="MONDO:indirect"} ! non-Langerhans cell histiocytosis
is_a: MONDO:0024617 {source="MONDO:Redundant", source="NCIT:C27514"} ! xanthogranuloma
intersection_of: MONDO:0024617 ! xanthogranuloma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004386
name: uterine corpus atypical polypoid adenomyoma
def: "An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "atypical polypoid adenomyoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "body of uterus atypical polypoid adenomyoma" EXACT [MONDO:patterns/location]
xref: DOID:7878 {source="MONDO:equivalentTo"}
xref: MEDGEN:276937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40235 {source="DOID:7878", source="MONDO:equivalentTo"}
xref: UMLS:C1519844 {source="MEDGEN:276937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003236 {source="DOID:7878", source="MONDO:Redundant", source="NCIT:C40235"} ! atypical polypoid adenomyoma
is_a: MONDO:0003237 {source="DOID:7878", source="MONDO:Redundant", source="NCIT:C40235"} ! adenomyoma of uterine corpus
intersection_of: MONDO:0003236 ! atypical polypoid adenomyoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0004387
name: luteoma of pregnancy
def: "A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required." [NCIT:C40445]
synonym: "leuteoma of pregnancy" EXACT [DOID:7880]
synonym: "luteoma" EXACT [DOID:7880]
xref: DOID:7880 {source="MONDO:equivalentTo"}
xref: MEDGEN:137726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018311 {source="MONDO:equivalentTo"}
xref: NCIT:C40445 {source="MONDO:equivalentTo", source="DOID:7880"}
xref: UMLS:C0334209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137726"}
is_a: MONDO:0005558 {source="DOID:7880", source="DOID:7880/inferred", source="MESH:D018311/inferred", source="NCIT:C40445", source="NCIT:C40445/inferred"} ! ovarian disorder
is_a: MONDO:0024575 {source="NCIT:C40445"} ! pregnancy disorder

[Term]
id: MONDO:0004388
name: obsolete testicular spermatocytic seminoma
is_obsolete: true
replaced_by: MONDO:0020513

[Term]
id: MONDO:0004389
name: mite infestation
def: "Infestations with arthropods of the subclass acari, superorder Acariformes." [MESH:D008924]
subset: otar {source="MONDO:OTAR"}
xref: DOID:7894 {source="MONDO:equivalentTo"}
xref: ICD10CM:B88.0 {source="DOID:7894"}
xref: ICD10CM:B88.9 {source="DOID:7894"}
xref: ICD9:133 {source="DOID:7894"}
xref: ICD9:133.9 {source="DOID:7894"}
xref: MEDGEN:7661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008924 {source="MONDO:equivalentTo", source="DOID:7894"}
xref: SCTID:154422001 {source="DOID:7894"}
xref: SCTID:187214007 {source="DOID:7894"}
xref: SCTID:187217000 {source="DOID:7894"}
xref: SCTID:240885009 {source="MONDO:equivalentTo", source="DOID:7894"}
xref: SCTID:266224002 {source="DOID:7894"}
xref: SCTID:78166003 {source="DOID:7894"}
xref: UMLS:C0026229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7661"}
is_a: MONDO:0002875 {source="DOID:7894", source="MESH:D008924"} ! parasitic ectoparasitic infectious disease

[Term]
id: MONDO:0004390
name: ocular hypotension
def: "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." [MESH:D015814]
synonym: "hypotony of eye" EXACT [DOID:790, ICD9CM:360.3]
xref: DOID:790 {source="MONDO:equivalentTo"}
xref: ICD10CM:H44.4 {source="DOID:790"}
xref: ICD10CM:H44.40 {source="DOID:790"}
xref: ICD9:360.3 {source="DOID:790"}
xref: ICD9:360.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:790"}
xref: MEDGEN:10424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015814 {source="MONDO:equivalentTo", source="DOID:790"}
xref: SCTID:193280007 {source="DOID:790"}
xref: SCTID:193283009 {source="DOID:790"}
xref: SCTID:19721008 {source="MONDO:equivalentTo", source="DOID:790"}
xref: SCTID:23670006 {source="DOID:790"}
xref: UMLS:C0028841 {source="MEDGEN:10424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:790", source="MESH:D015814"} ! eye disorder

[Term]
id: MONDO:0004391
name: obsolete adult extraosseous chondrosarcoma
def: "OBSOLETE. A extraosseous chondrosarcoma that occurs in an adult." [MONDO:design_pattern]
comment: NCIt recommended obsoletion of the parent class.
synonym: "extraosseous chondrosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:7902 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/388" xsd:anyURI
is_obsolete: true
consider: MONDO:0012825

[Term]
id: MONDO:0004392
name: intracranial extraskeletal myxoid chondrosarcoma
def: "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." [NCIT:C5462]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intracranial chondrosarcoma" RELATED [DOID:7903]
synonym: "intracranial extraskeletal myxoid chondrosarcoma" EXACT [NCIT:C5462]
xref: DOID:7903 {source="MONDO:equivalentTo"}
xref: MEDGEN:232660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5462 {source="MONDO:equivalentTo", source="DOID:7903"}
xref: UMLS:C1334238 {source="MEDGEN:232660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002217 {source="MONDO:Redundant", source="NCIT:C5462"} ! central nervous system sarcoma
is_a: MONDO:0012825 {source="MONDO:Redundant", source="NCIT:C5462"} ! extraskeletal myxoid chondrosarcoma
intersection_of: MONDO:0002217 {source="NCIT:C5462"} ! central nervous system sarcoma
intersection_of: MONDO:0012825 {source="NCIT:C5462"} ! extraskeletal myxoid chondrosarcoma

[Term]
id: MONDO:0004393
name: mixed astrocytoma-ependymoma
def: "A tumor of mixed cell type with astrocytic components as well as ependymoma components." [NCIT:C8271]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mixed astrocytoma-ependymoma" EXACT [NCIT:C8271]
xref: DOID:7907 {source="MONDO:equivalentTo"}
xref: MEDGEN:76166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8271 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7907"}
xref: UMLS:C0280791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76166"}
is_a: MONDO:0003268 {source="DOID:7907", source="NCIT:C8271"} ! mixed glioma

[Term]
id: MONDO:0004394
name: maxillary sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermoid carcinoma of maxillary antrum" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of maxillary sinus" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of maxillofacial sinus" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of the maxillary antrum" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of the maxillary sinus" EXACT [NCIT:C6064]
synonym: "epidermoid carcinoma of the maxillofacial sinus" EXACT [DOID:7910, NCIT:C6064]
synonym: "maxillary antrum epidermoid carcinoma" EXACT [NCIT:C6064]
synonym: "maxillary antrum squamous cell carcinoma" EXACT [NCIT:C6064]
synonym: "maxillary sinus epidermoid carcinoma" EXACT [NCIT:C6064]
synonym: "maxillary sinus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "maxillofacial sinus epidermoid carcinoma" EXACT [NCIT:C6064]
synonym: "maxillofacial sinus squamous cell carcinoma" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of maxillary antrum" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of maxillary sinus" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of maxillofacial sinus" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of the maxillary antrum" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of the maxillary sinus" EXACT [NCIT:C6064]
synonym: "squamous cell carcinoma of the maxillofacial sinus" EXACT [NCIT:C6064]
xref: DOID:7910 {source="MONDO:equivalentTo"}
xref: MEDGEN:277348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6064 {source="DOID:7910", source="MONDO:equivalentTo"}
xref: SCTID:707354003 {source="MONDO:equivalentTo"}
xref: UMLS:C1334647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277348"}
is_a: MONDO:0001748 {source="DOID:7910", source="MONDO:Redundant", source="NCIT:C6064", source="NCIT:C6064/inferred"} ! maxillary sinus carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0004395
name: obsolete mixed oligodendroglioma-astrocytoma
is_obsolete: true
replaced_by: MONDO:0016702

[Term]
id: MONDO:0004396
name: cervical spinal canal and spinal cord meningioma
def: "A meningioma that arises from the meninges of the cervical region of the spinal cord." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical intraspinal meningioma" EXACT [NCIT:C5296]
synonym: "meningioma of cervical spinal canal and spinal cord" EXACT [NCIT:C5296]
synonym: "meningioma of the cervical spinal canal and spinal cord" EXACT [DOID:7915, NCIT:C5296]
xref: DOID:7915 {source="MONDO:equivalentTo"}
xref: MEDGEN:272451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5296 {source="MONDO:equivalentTo", source="DOID:7915"}
xref: UMLS:C1332916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272451"}
is_a: MONDO:0001279 {source="DOID:7915", source="NCIT:C5296"} ! intraspinal meningioma

[Term]
id: MONDO:0004397
name: benign mediastinal psammomatous neurilemmoma
def: "A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies." [NCIT:P378]
subset: inferred_rare
subset: rare
synonym: "benign mediastinal psammomatous schwannoma" EXACT [NCIT:C6636]
synonym: "benign psammomatous neurilemmoma of mediastinum" EXACT [NCIT:C6636]
synonym: "benign psammomatous neurilemmoma of the mediastinum" EXACT [NCIT:C6636]
synonym: "benign psammomatous schwannoma of mediastinum" EXACT [DOID:7921, NCIT:C6636]
synonym: "benign psammomatous schwannoma of the mediastinum" EXACT [NCIT:C6636]
xref: DOID:7921 {source="MONDO:equivalentTo"}
xref: MEDGEN:231937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6636 {source="DOID:7921", source="MONDO:equivalentTo"}
xref: UMLS:C1332513 {source="MEDGEN:231937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004398 {source="DOID:7921", source="NCIT:C6636"} ! mediastinal schwannoma

[Term]
id: MONDO:0004398
name: mediastinal schwannoma
def: "A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative." [NCIT:C6643]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "benign mediastinal neurilemmoma" EXACT [NCIT:C6643]
synonym: "benign mediastinal schwannoma" EXACT [NCIT:C6643]
synonym: "benign neurilemmoma of mediastinum" EXACT [NCIT:C6643]
synonym: "benign neurilemmoma of the mediastinum" EXACT [NCIT:C6643]
synonym: "benign schwannoma of mediastinum" EXACT [DOID:7922, NCIT:C6625, NCIT:C6643]
synonym: "benign schwannoma of the mediastinum" EXACT [NCIT:C6643]
synonym: "mediastinal neurilemmoma" EXACT [NCIT:C6643]
synonym: "mediastinal schwannoma" EXACT [NCIT:C6643]
synonym: "mediastinum schwannoma" EXACT [MONDO:patterns/location]
synonym: "neurilemmoma of mediastinum" EXACT [NCIT:C6643]
synonym: "neurilemmoma of the mediastinum" EXACT [NCIT:C6643]
synonym: "schwannoma of mediastinum" EXACT [NCIT:C6643]
synonym: "schwannoma of the mediastinum" EXACT [NCIT:C6643]
xref: DOID:6175 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:7922 {source="MONDO:equivalentTo"}
xref: MEDGEN:233688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6625 {source="DOID:7922", source="MONDO:otherHierarchy"}
xref: NCIT:C6643 {source="MONDO:equivalentTo", source="DOID:6175"}
xref: UMLS:C1334679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233688"}
is_a: MONDO:0002546 {source="DOID:7922"} ! schwannoma
is_a: MONDO:0003098 {source="DOID:6175", source="NCIT:C6643"} ! mediastinal neural neoplasm
is_a: MONDO:0004820 {source="DOID:6175", source="NCIT:C6643"} ! peripheral nerve schwannoma
is_a: MONDO:0021521 {source="MONDO:Entailed", source="NCIT:C6643"} ! benign neoplasm of mediastinum
intersection_of: MONDO:0002546 ! schwannoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0004399
name: obsolete epithelial malignant thymoma
is_obsolete: true
replaced_by: MONDO:0006458

[Term]
id: MONDO:0004400
name: malignant type A thymoma
def: "A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." [NCIT:C7999]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant type A thymoma" EXACT [NCIT:C7999]
synonym: "thymoma, medullary, malignant" EXACT [DOID:7927]
xref: DOID:7927 {source="MONDO:equivalentTo"}
xref: ICDO:8581/3 {source="NCIT:C7999"}
xref: MEDGEN:79027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7999 {source="MONDO:equivalentTo", source="DOID:7927", source="MONDO:exact-label-match"}
xref: SCTID:128708008 {source="DOID:7927"}
xref: UMLS:C0279707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79027"}
is_a: MONDO:0002588 {source="DOID:7927", source="NCIT:C7999"} ! thymoma type A

[Term]
id: MONDO:0004401
name: testis refractory cancer
def: "Malignant testicular germ cell tumor that is resistant to treatment." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "refractory cancer of testis" EXACT [NCIT:C9077]
synonym: "refractory cancer of the testis" EXACT [NCIT:C9077]
synonym: "refractory malignant testicular germ cell tumor" EXACT [NCIT:C9077]
synonym: "refractory malignant testicular germ cell tumour" EXACT OMO:0003005 []
synonym: "refractory testicular cancer" EXACT [NCIT:C9077]
synonym: "refractory testicular carcinoma" EXACT [DOID:7928, NCIT:C9077]
xref: DOID:7928 {source="MONDO:equivalentTo"}
xref: MEDGEN:235122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9077 {source="MONDO:equivalentTo", source="DOID:7928"}
xref: UMLS:C1377904 {source="MEDGEN:235122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003510 {source="DOID:7928", source="NCIT:C9077"} ! malignant testicular germ cell tumor
intersection_of: MONDO:0003510 ! malignant testicular germ cell tumor
intersection_of: has_characteristic HP:0031375 ! Refractory

[Term]
id: MONDO:0004402
name: testicular yolk sac tumor, glandular-alveolar pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures." [NCIT:C39926]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glandular-alveolar pattern testicular yolk sac tumor" RELATED [DOID:7930]
synonym: "glandular-alveolar pattern testicular yolk sac tumour" RELATED OMO:0003005 []
synonym: "testicular yolk sac tumor, glandular-alveolar pattern" EXACT [NCIT:C39926]
xref: DOID:7930 {source="MONDO:equivalentTo"}
xref: MEDGEN:273637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39926 {source="DOID:7930", source="MONDO:equivalentTo", source="NCIT:C39926"}
xref: UMLS:C1515305 {source="MEDGEN:273637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003402 {source="DOID:7930", source="NCIT:C39926"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004403
name: childhood precursor T-lymphoblastic lymphoma/leukemia
def: "A T lymphoblastic leukemia/lymphoma that occurs during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood precursor T-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C5640]
synonym: "childhood T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C5640]
synonym: "paediatric precursor T-lymphoblastic lymphoma/leukemia" EXACT OMO:0003005 []
synonym: "pediatric precursor T-lymphoblastic lymphoma/leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "precursor T-lymphoblastic lymphoma/leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:7933 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:232067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5640 {source="DOID:7933", source="MONDO:equivalentTo"}
xref: UMLS:C1332997 {source="MEDGEN:232067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003537 {source="DOID:7933", source="MONDO:Redundant", source="NCIT:C5640"} ! precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0006517 {source="NCIT:C5640"} ! childhood malignant neoplasm
intersection_of: MONDO:0003537 ! precursor T-lymphoblastic lymphoma/leukemia
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004404
name: refractory precursor T-lymphoblastic lymphoma/leukemia
def: "T-lymphoblastic leukemia/lymphoma resistant to treatment" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "precursor T lymphoblastic lymphoma/leukemia refractory" EXACT [NCIT:C8696]
synonym: "refractory precursor T-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8696]
synonym: "refractory T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8696]
xref: DOID:7936 {source="MONDO:equivalentTo"}
xref: MEDGEN:167728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8696 {source="MONDO:equivalentTo", source="DOID:7936"}
xref: UMLS:C0854859 {source="MEDGEN:167728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003537 {source="DOID:7936", source="NCIT:C8696"} ! precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0004111 {source="DOID:7936", source="NCIT:C8696"} ! refractory hematologic cancer
intersection_of: MONDO:0003537 ! precursor T-lymphoblastic lymphoma/leukemia
intersection_of: has_characteristic HP:0031375 ! Refractory

[Term]
id: MONDO:0004405
name: Barrett adenocarcinoma
def: "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002" [NCIT:C7027]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma arising in Barrett's mucosa" EXACT [DOID:7941, NCIT:C7027]
synonym: "Barrett adenocarcinoma" EXACT [DOID:7941, NCIT:C7027]
synonym: "Barrett's adenocarcinoma" EXACT [NCIT:C7027]
xref: DOID:7941 {source="MONDO:equivalentTo"}
xref: EFO:1001939 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7027 {source="DOID:7941", source="MONDO:equivalentTo"}
xref: SCTID:721617001 {source="MONDO:equivalentTo"}
xref: UMLS:C1332460 {source="MONDO:equivalentTo", source="MEDGEN:272350", source="MONDO:MEDGEN"}
is_a: MONDO:0005028 {source="DOID:7941", source="EFO:1001939", source="NCIT:C7027", source="NCIT:C7027/inferred"} ! esophageal adenocarcinoma

[Term]
id: MONDO:0004406
name: adult central nervous system mixed germ cell tumor
def: "A mixed germ cell tumor of central nervous system that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult central nervous system mixed germ cell tumor" EXACT [NCIT:C27402]
synonym: "adult mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern]
synonym: "adult mixed germ cell tumour of central nervous system" EXACT OMO:0003005 []
synonym: "central nervous system Mixed germ cell tumor" BROAD [NCIT:C27402]
synonym: "central nervous system Mixed germ cell tumour" BROAD OMO:0003005 []
synonym: "mixed germ cell tumor of central nervous system of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "mixed germ cell tumour of central nervous system of adults" EXACT OMO:0003005 []
xref: DOID:7945 {source="MONDO:equivalentTo"}
xref: MEDGEN:231038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27402 {source="MONDO:equivalentTo", source="DOID:7945", source="MONDO:exact-label-match"}
xref: UMLS:C1332195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231038"}
is_a: MONDO:0003405 {source="DOID:7945", source="MONDO:Redundant", source="NCIT:C27402"} ! adult central nervous system germ cell tumor
is_a: MONDO:0016742 {source="MONDO:Redundant", source="NCIT:C27402"} ! mixed germ cell tumor of central nervous system
intersection_of: MONDO:0016742 ! mixed germ cell tumor of central nervous system
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004407
name: stroma-dominant and stroma-poor composite ganglioneuroblastoma
def: "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor" EXACT [NCIT:C42060]
xref: DOID:7949 {source="MONDO:equivalentTo"}
xref: MEDGEN:275793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42060 {source="MONDO:equivalentTo", source="DOID:7949"}
xref: UMLS:C1516761 {source="MONDO:equivalentTo", source="MEDGEN:275793", source="MONDO:MEDGEN"}
is_a: MONDO:0003325 {source="DOID:7949", source="NCIT:C42060"} ! nodular ganglioneuroblastoma

[Term]
id: MONDO:0004408
name: schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
def: "A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor" EXACT [NCIT:C42059]
xref: DOID:7951 {source="MONDO:equivalentTo"}
xref: MEDGEN:275792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42059 {source="DOID:7951", source="MONDO:equivalentTo"}
xref: UMLS:C1516760 {source="MEDGEN:275792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003325 {source="DOID:7951", source="NCIT:C42059"} ! nodular ganglioneuroblastoma

[Term]
id: MONDO:0004409
name: nipple duct carcinoma
def: "A carcinoma that develops in the ducts of the nipple." [NCIT:C27234]
synonym: "nipple duct carcinoma" EXACT [NCIT:C27234]
xref: DOID:7953 {source="MONDO:equivalentTo"}
xref: MEDGEN:233757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27234 {source="DOID:7953", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233757"}
is_a: MONDO:0003950 {source="DOID:7953", source="NCIT:C27234"} ! nipple carcinoma

[Term]
id: MONDO:0004410
name: sarcomatoid penile squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "sarcomatoid carcinoma of the penis" EXACT [NCIT:C6984]
synonym: "sarcomatoid penile carcinoma" EXACT [NCIT:C6984]
synonym: "sarcomatoid penile squamous cell carcinoma" EXACT [NCIT:C6984]
synonym: "sarcomatous carcinoma of the penis" EXACT [DOID:7958, NCIT:C6984]
synonym: "spindle cell carcinoma of the penis" EXACT [NCIT:C6984]
synonym: "squamous cell carcinoma of penis, sarcomatoid type" EXACT [NCIT:C6984]
synonym: "squamous cell carcinoma of the penis, sarcomatoid type" EXACT [NCIT:C6984]
xref: DOID:7958 {source="MONDO:equivalentTo"}
xref: MEDGEN:235580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6984 {source="MONDO:equivalentTo", source="DOID:7958"}
xref: UMLS:C1335923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235580"}
is_a: MONDO:0018352 {source="DOID:7958", source="MONDO:Redundant", source="NCIT:C6984"} ! squamous cell carcinoma of penis
is_a: MONDO:0021663 {source="MONDO:Redundant", source="NCIT:C6984"} ! sarcomatoid squamous cell carcinoma
intersection_of: MONDO:0021663 ! sarcomatoid squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0004411
name: duodenal gastrin-producing neuroendocrine tumor
def: "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." [NCIT:C5731]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "duodenal G-cell gastrin producing tumor" EXACT [DOID:7959, NCIT:C5731]
synonym: "duodenal G-cell gastrin producing tumour" EXACT OMO:0003005 []
synonym: "duodenal gastrin-producing NET" EXACT [NCIT:C5731]
synonym: "duodenal gastrin-producing neuroendocrine tumor" EXACT [NCIT:C5731]
synonym: "duodenal gastrinoma" EXACT [NCIT:C5731]
synonym: "duodenum gastrin-producing neuroendocrine tumor" EXACT [MONDO:patterns/location]
synonym: "duodenum gastrin-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "gastrin producing tumor of duodenum" EXACT [NCIT:C5731]
synonym: "gastrin producing tumor of the duodenum" EXACT [NCIT:C5731]
synonym: "gastrin producing tumour of duodenum" EXACT OMO:0003005 []
synonym: "gastrin producing tumour of the duodenum" EXACT OMO:0003005 []
synonym: "gastrin-producing neuroendocrine tumor of duodenum" EXACT [MONDO:design_pattern]
synonym: "gastrin-producing neuroendocrine tumour of duodenum" EXACT OMO:0003005 []
synonym: "gastrinoma of duodenum" EXACT [DOID:7959, NCIT:C5731]
synonym: "gastrinoma of the duodenum" EXACT [NCIT:C5731]
synonym: "malignant duodenal gastrinoma" EXACT [DOID:7959]
xref: DOID:7959 {source="MONDO:equivalentTo"}
xref: MEDGEN:272550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5731 {source="MONDO:equivalentTo", source="DOID:7959"}
xref: UMLS:C1333321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272550"}
is_a: MONDO:0002995 {source="DOID:7959", source="MONDO:Redundant", source="NCIT:C5731/inferred"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0003523 {source="DOID:7959", source="MONDO:Redundant", source="NCIT:C5731/inferred"} ! gastrin-producing neuroendocrine tumor
is_a: MONDO:0015063 {source="MONDO:Redundant", source="NCIT:C5731"} ! duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
intersection_of: MONDO:0003523 ! gastrin-producing neuroendocrine tumor
intersection_of: disease_has_location UBERON:0002114 ! duodenum
relationship: excluded_subClassOf MONDO:0000920 {source="DOID:7959", source="https://orcid.org/0000-0001-5208-3432"} ! duodenum cancer

[Term]
id: MONDO:0004412
name: malignant spiradenoma
def: "A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs." [NCIT:P378]
synonym: "malignant eccrine spiradenoma" EXACT [DOID:7960, NCIT:C5117]
synonym: "malignant eccrine spiradenoma (morphologic abnormality)" EXACT [DOID:7960]
synonym: "malignant spiradenoma" EXACT [NCIT:C5117]
synonym: "Spiradenocarcinoma" EXACT [NCIT:C5117]
synonym: "spiradenoma, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:7960 {source="MONDO:equivalentTo"}
xref: ICDO:8403/3 {source="NCIT:C5117"}
xref: MEDGEN:266097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5117 {source="MONDO:equivalentTo", source="DOID:7960"}
xref: SCTID:128895006 {source="DOID:7960"}
xref: SCTID:403942003 {source="MONDO:equivalentTo", source="DOID:7960"}
xref: UMLS:C1266063 {source="MEDGEN:266097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005506 {source="DOID:7960", source="MONDO:Redundant"} ! eccrine sweat gland cancer
is_a: MONDO:0005524 {source="MONDO:Redundant", source="NCIT:C5117"} ! sweat gland carcinoma
relationship: disease_arises_from_feature MONDO:0003448 ! benign spiradenoma

[Term]
id: MONDO:0004413
name: cervical non-keratinizing squamous cell carcinoma
def: "A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:7961 {source="MONDO:equivalentTo"}
xref: MEDGEN:309426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40188 {source="DOID:7961", source="MONDO:equivalentTo"}
xref: UMLS:C1518366 {source="MEDGEN:309426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006143 {source="DOID:7961", source="NCIT:C40188"} ! cervical squamous cell carcinoma

[Term]
id: MONDO:0004414
name: tamoxifen-related endometrial lesion
def: "A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma." [NCIT:P378]
synonym: "tamoxifen-related endometrial disorder" EXACT [NCIT:C40159]
xref: DOID:7962 {source="MONDO:equivalentTo"}
xref: MEDGEN:271571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40159 {source="DOID:7962", source="MONDO:equivalentTo"}
xref: UMLS:C1515212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271571"}
is_a: MONDO:0000931 {source="DOID:7962", source="NCIT:C40159"} ! endometrial disorder

[Term]
id: MONDO:0004415
name: lipid-cell variant infiltrating bladder urothelial carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating bladder urothelial carcinoma, Lipid-cell variant" EXACT [NCIT:C39828]
xref: DOID:7967 {source="MONDO:equivalentTo"}
xref: MEDGEN:268928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39828 {source="MONDO:equivalentTo", source="DOID:7967"}
xref: UMLS:C1512738 {source="MEDGEN:268928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003890 {source="DOID:7967", source="NCIT:C39828"} ! infiltrating bladder urothelial carcinoma

[Term]
id: MONDO:0004416
name: plasmacytoid variant infiltrating bladder urothelial carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating bladder urothelial carcinoma, plasmacytoid variant" EXACT [NCIT:C39823]
synonym: "plasmacytoid/signet ring cell bladder carcinoma" RELATED [ONCOTREE:SRCBC]
xref: DOID:7968 {source="MONDO:equivalentTo"}
xref: MEDGEN:268576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39823 {source="DOID:7968", source="MONDO:equivalentTo"}
xref: ONCOTREE:SRCBC {source="MONDO:equivalentTo"}
xref: UMLS:C1512742 {source="MEDGEN:268576", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003890 {source="DOID:7968", source="NCIT:C39823"} ! infiltrating bladder urothelial carcinoma

[Term]
id: MONDO:0004417
name: nested variant infiltrating bladder urothelial carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating bladder urothelial carcinoma, nested variant" EXACT [NCIT:C39819]
xref: DOID:7969 {source="MONDO:equivalentTo"}
xref: MEDGEN:268575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39819 {source="MONDO:equivalentTo", source="DOID:7969", source="MONDO:exact-label-match"}
xref: UMLS:C1512741 {source="MEDGEN:268575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003890 {source="DOID:7969", source="NCIT:C39819"} ! infiltrating bladder urothelial carcinoma

[Term]
id: MONDO:0004418
name: microcystic variant infiltrating bladder urothelial carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating bladder urothelial carcinoma, microcystic variant" EXACT [NCIT:C39820]
xref: DOID:7971 {source="MONDO:equivalentTo"}
xref: MEDGEN:268574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39820 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7971"}
xref: UMLS:C1512740 {source="MEDGEN:268574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003890 {source="DOID:7971", source="NCIT:C39820"} ! infiltrating bladder urothelial carcinoma

[Term]
id: MONDO:0004419
name: lymphoma-like variant infiltrating bladder urothelial carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infiltrating bladder urothelial carcinoma, lymphoma-like variant" EXACT [NCIT:C39822]
xref: DOID:7972 {source="MONDO:equivalentTo"}
xref: NCIT:C39822 {source="DOID:7972", source="MONDO:equivalentTo"}
is_a: MONDO:0003890 {source="DOID:7972", source="NCIT:C39822"} ! infiltrating bladder urothelial carcinoma

[Term]
id: MONDO:0004420
name: breast malignant eccrine spiradenoma
def: "A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast." [NCIT:P378]
synonym: "breast malignant spiradenoma" EXACT [MONDO:patterns/location]
synonym: "malignant breast eccrine spiradenoma" EXACT [NCIT:C5180]
synonym: "malignant eccrine spiradenoma of breast" EXACT [NCIT:C5180]
synonym: "malignant eccrine spiradenoma of the breast" EXACT [DOID:7983, NCIT:C5180]
synonym: "malignant spiradenoma of breast" EXACT [MONDO:design_pattern]
xref: DOID:7983 {source="MONDO:equivalentTo"}
xref: MEDGEN:277329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5180 {source="DOID:7983", source="MONDO:equivalentTo"}
xref: UMLS:C1334565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277329"}
is_a: MONDO:0004412 {source="DOID:7983", source="MONDO:Redundant", source="NCIT:C5180"} ! malignant spiradenoma
is_a: MONDO:0007254 {source="DOID:7983", source="MONDO:Redundant", source="NCIT:C5180"} ! breast cancer
intersection_of: MONDO:0004412 ! malignant spiradenoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0004421
name: sclerosing breast papilloma
def: "A breast papilloma characterized by the presence of predominant sclerosing architectural features." [NCIT:C27944]
synonym: "Complex sclerosing papillary lesion" EXACT [NCIT:C27944]
synonym: "Complex sclerosing papillary lesion of the breast" EXACT [NCIT:C27944]
synonym: "sclerosing breast papilloma" EXACT [NCIT:C27944]
xref: DOID:7984 {source="MONDO:equivalentTo"}
xref: MEDGEN:233436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27944 {source="DOID:7984", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233436"}
is_a: MONDO:0021097 {source="DOID:7984", source="NCIT:C27944"} ! intraductal breast papilloma

[Term]
id: MONDO:0004422
name: cerebral falx meningioma
def: "A meningioma that affects the falx cerebri." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Falcine meningioma" EXACT [DOID:7986, NCIT:C5267]
synonym: "falx cerebri meningioma" EXACT [NCIT:C5267]
synonym: "falx cerebri meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of falx cerebri" EXACT []
synonym: "meningioma of cerebral falx" EXACT [NCIT:C5267]
synonym: "meningioma of falx cerebri" EXACT [NCIT:C5267]
synonym: "meningioma of falx of cerebrum" EXACT [NCIT:C5267]
synonym: "meningioma of the cerebral falx" EXACT [NCIT:C5267]
synonym: "meningioma of the falx cerebri" EXACT [NCIT:C5267]
synonym: "meningioma of the falx of the cerebrum" EXACT [NCIT:C5267]
xref: DOID:7986 {source="MONDO:equivalentTo"}
xref: MEDGEN:272627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5267 {source="DOID:7986", source="MONDO:equivalentTo"}
xref: UMLS:C1333597 {source="MEDGEN:272627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002997 {source="DOID:7986", source="NCIT:C5267"} ! anterior cranial fossa meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0006059 ! falx cerebri

[Term]
id: MONDO:0004423
name: central nervous system extraskeletal osteosarcoma
def: "An osteosarcoma arising from the brain or spinal cord." [NCIT:C7002, NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system extraskeletal osteosarcoma" EXACT [NCIT:C7002]
synonym: "central nervous system osteosarcoma" RELATED [DOID:7994]
synonym: "central nervous system osteosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "osteosarcoma of central nervous system" EXACT [NCIT:C7002]
synonym: "osteosarcoma of the central nervous system" EXACT [NCIT:C7002]
xref: DOID:7994 {source="MONDO:equivalentTo"}
xref: MEDGEN:233803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7002 {source="DOID:7994", source="MONDO:equivalentTo"}
xref: UMLS:C1335150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233803"}
is_a: MONDO:0002217 {source="DOID:7994", source="MONDO:Redundant", source="NCIT:C7002"} ! central nervous system sarcoma
is_a: MONDO:0002621 {source="NCIT:C7002"} ! extraosseous osteosarcoma
is_a: MONDO:0003244 {source="DOID:7994", source="NCIT:C7002/inferred"} ! central nervous system mesenchymal non-meningothelial tumor
is_a: MONDO:0009807 {source="DOID:7994", source="MONDO:0004423/inferred", source="MONDO:Entailed", source="NCIT:C7002/inferred"} ! osteosarcoma
intersection_of: MONDO:0009807 ! osteosarcoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0004424
name: obsolete familial glomangioma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3168" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007672

[Term]
id: MONDO:0004425
name: hyperthyroidism
def: "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "overactive thyroid" EXACT [DOID:7998, NCIT:C3123]
xref: DOID:7998 {source="MONDO:equivalentTo"}
xref: EFO:0009189 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E05.9 {source="DOID:7998"}
xref: ICD9:242.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006980 {source="DOID:7998", source="MONDO:equivalentTo"}
xref: NANDO:2100119 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200329 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3123 {source="DOID:7998", source="MONDO:equivalentTo"}
xref: Orphanet:99819 {source="DOID:7998"}
xref: SCTID:154655004 {source="DOID:7998"}
xref: SCTID:190239004 {source="DOID:7998"}
xref: SCTID:267464006 {source="DOID:7998"}
xref: SCTID:34486009 {source="DOID:7998", source="MONDO:equivalentTo"}
xref: UMLS:C0020550 {source="MEDGEN:6972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="DOID:7998", source="EFO:0009189", source="MESH:D006980", source="NCIT:C3123/inferred"} ! thyroid gland disorder

[Term]
id: MONDO:0004426
name: frontal convexity meningioma
def: "A meningioma that affects the frontal sulcus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:8000 {source="MONDO:equivalentTo"}
xref: MEDGEN:234272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5292 {source="MONDO:equivalentTo", source="DOID:8000"}
xref: UMLS:C1333643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234272"}
is_a: MONDO:0003774 {source="DOID:8000", source="NCIT:C5292"} ! cerebral convexity meningioma

[Term]
id: MONDO:0004427
name: supraglottis neoplasm
def: "A benign or malignant neoplasm that affects the supraglottic area of the larynx." [NCIT:C6793]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of supraglottis" EXACT [NCIT:C6793]
synonym: "neoplasm of the supraglottis" EXACT [NCIT:C6793]
synonym: "supraglottic neoplasm" EXACT [NCIT:C6793]
synonym: "supraglottic part of larynx neoplasm" EXACT []
synonym: "supraglottic part of larynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "supraglottic part of larynx tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "supraglottic part of larynx tumour" EXACT OMO:0003005 []
synonym: "supraglottic tumor" EXACT [DOID:8002, NCIT:C6793]
synonym: "supraglottic tumour" EXACT OMO:0003005 []
synonym: "supraglottis neoplasm" EXACT [NCIT:C6793]
synonym: "supraglottis tumor" EXACT [NCIT:C6793]
synonym: "supraglottis tumour" EXACT OMO:0003005 []
synonym: "tumor of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of supraglottis" EXACT [NCIT:C6793]
synonym: "tumor of the supraglottis" EXACT [NCIT:C6793]
synonym: "tumour of supraglottic part of larynx" EXACT OMO:0003005 []
synonym: "tumour of supraglottis" EXACT OMO:0003005 []
synonym: "tumour of the supraglottis" EXACT OMO:0003005 []
xref: DOID:8002 {source="MONDO:equivalentTo"}
xref: MEDGEN:87512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6793 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8002"}
xref: SCTID:126697005 {source="MONDO:equivalentTo", source="DOID:8002"}
xref: UMLS:C0345726 {source="MEDGEN:87512", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021071 {source="MONDO:Redundant", source="NCIT:C6793"} ! laryngeal neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0036263 ! supraglottic part of larynx

[Term]
id: MONDO:0004428
name: alveoli adenoma
def: "A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative." [NCIT:P378]
synonym: "adenoma of alveoli" EXACT [DOID:8003, NCIT:C4140]
synonym: "adenoma of the alveoli" EXACT [DOID:8003, NCIT:C4140]
synonym: "adenoma, bronchioloalveolar, benign" EXACT [NCIT:C4140]
synonym: "alveolar adenoma" EXACT [NCIT:C4140]
synonym: "alveolar adenoma (morphologic abnormality)" EXACT [DOID:8003]
xref: DOID:8003 {source="MONDO:equivalentTo"}
xref: ICDO:8251/0 {source="NCIT:C4140"}
xref: MEDGEN:137740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4140 {source="MONDO:equivalentTo", source="DOID:8003"}
xref: SCTID:8097004 {source="DOID:8003"}
xref: UMLS:C0334303 {source="MEDGEN:137740", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003422 {source="DOID:8003", source="NCIT:C4140"} ! lung adenoma

[Term]
id: MONDO:0004429
name: skin meningioma
def: "A meningioma (disease) that involves the zone of skin." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of zone of skin" EXACT []
synonym: "primary meningioma of the skin" NARROW [DOID:8006, NCIT:C5277]
synonym: "zone of skin meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8006 {source="MONDO:equivalentTo"}
xref: MEDGEN:698541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5277 {source="DOID:8006"}
xref: UMLS:C1275260 {source="MEDGEN:698541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002898 {source="DOID:8006", source="MONDO:Entailed"} ! skin cancer
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0004430
name: penis mixed squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma)." [NCIT:C39959]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mixed squamous cell carcinoma of the penis" EXACT [NCIT:C39959]
xref: DOID:8009 {source="MONDO:equivalentTo"}
xref: MEDGEN:268711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39959 {source="DOID:8009", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1513369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:268711"}
is_a: MONDO:0018352 {source="DOID:8009", source="NCIT:C39959"} ! squamous cell carcinoma of penis

[Term]
id: MONDO:0004431
name: hemarthrosis
def: "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." [MESH:D006395]
subset: otar {source="MONDO:OTAR"}
synonym: "haemarthrosis of shoulder joint" NARROW [DOID:801]
synonym: "haemarthrosis of the ankle and foot" NARROW [DOID:801]
synonym: "haemarthrosis of the pelvic region and thigh" NARROW [DOID:801]
synonym: "hemarthrosis involving ankle and foot" NARROW [DOID:801, ICD9CM:719.17]
synonym: "hemarthrosis involving forearm" NARROW [DOID:801, ICD9CM:719.13]
synonym: "hemarthrosis involving hand" NARROW [DOID:801, ICD9CM:719.14]
synonym: "hemarthrosis involving lower leg" NARROW [DOID:801, ICD9CM:719.16]
synonym: "hemarthrosis involving pelvic region and thigh" NARROW [DOID:801, ICD9CM:719.15]
synonym: "hemarthrosis involving shoulder region" NARROW [DOID:801, ICD9CM:719.11]
synonym: "hemarthrosis involving upper arm" NARROW [DOID:801, ICD9CM:719.12]
synonym: "hemarthrosis of ankle and/or foot" EXACT [DOID:801]
synonym: "hemarthrosis of forearm" NARROW [DOID:801]
synonym: "hemarthrosis of hand" NARROW [DOID:801]
synonym: "hemarthrosis of lower leg" NARROW [DOID:801]
synonym: "hemarthrosis of shoulder" NARROW [DOID:801]
synonym: "hemarthrosis of shoulder region" EXACT [DOID:801]
synonym: "hemarthrosis of the ankle and foot" NARROW [DOID:801]
synonym: "hemarthrosis of the ankle and/or foot" EXACT [DOID:801]
synonym: "hemarthrosis of the forearm" NARROW [DOID:801]
synonym: "hemarthrosis of the hand" NARROW [DOID:801]
synonym: "hemarthrosis of the lower leg" NARROW [DOID:801]
synonym: "hemarthrosis of the pelvic region and thigh" NARROW [DOID:801]
synonym: "hemarthrosis of the shoulder region" EXACT [DOID:801]
synonym: "hemarthrosis of the upper arm" NARROW [DOID:801]
synonym: "hemarthrosis of upper arm" NARROW [DOID:801]
xref: DOID:801 {source="MONDO:equivalentTo"}
xref: EFO:1001344 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M25.0 {source="DOID:801"}
xref: ICD9:719.1 {source="DOID:801"}
xref: ICD9:719.10 {source="DOID:801", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:719.18 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006395 {source="DOID:801", source="MONDO:equivalentTo"}
xref: SCTID:156581006 {source="DOID:801"}
xref: SCTID:156591000 {source="DOID:801"}
xref: SCTID:202394001 {source="DOID:801"}
xref: SCTID:202422006 {source="DOID:801"}
xref: SCTID:81808003 {source="DOID:801", source="MONDO:equivalentTo"}
xref: UMLS:C0018924 {source="MONDO:equivalentTo", source="MEDGEN:5479", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:801", source="MESH:D006395"} ! arthropathy
relationship: disease_has_location UBERON:0002101 ! limb

[Term]
id: MONDO:0004432
name: mature pericardial teratoma
def: "A benign teratoma that arises from the pericardium." [NCIT:C6744]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "benign pericardial teratoma" EXACT [NCIT:C6744]
synonym: "mature pericardial teratoma" EXACT [NCIT:C6744]
synonym: "mature teratoma of pericardium" EXACT [DOID:8012, NCIT:C6744]
synonym: "mature teratoma of the pericardium" EXACT [NCIT:C6744]
synonym: "pericardium mature teratoma" EXACT [MONDO:patterns/location]
xref: DOID:8012 {source="MONDO:equivalentTo"}
xref: MEDGEN:233673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6744 {source="MONDO:equivalentTo", source="DOID:8012"}
xref: UMLS:C1334638 {source="MEDGEN:233673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003517 {source="MONDO:Redundant", source="NCIT:C6744"} ! mature teratoma
is_a: MONDO:0021381 {source="MONDO:Redundant", source="NCIT:C6744/inferred"} ! neoplasm of pericardium
intersection_of: MONDO:0003517 ! mature teratoma
intersection_of: disease_has_location UBERON:0002407 ! pericardium

[Term]
id: MONDO:0004433
name: papillary carcinoma of the penis
def: "A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern." [NCIT:C6983]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "papillary carcinoma of penis" EXACT [NCIT:C6983]
synonym: "papillary carcinoma of the penis" EXACT [NCIT:C6983]
synonym: "papillary penile carcinoma" EXACT [NCIT:C6983]
synonym: "papillary penile squamous carcinoma" EXACT [NCIT:C6983]
synonym: "papillary squamous carcinoma of penis" EXACT [NCIT:C6983]
synonym: "papillary squamous carcinoma of the penis" EXACT [NCIT:C6983]
synonym: "penis papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous carcinoma of penis, papillary type" EXACT [DOID:8013, NCIT:C6983]
synonym: "squamous carcinoma of the penis, papillary type" EXACT [NCIT:C6983]
xref: DOID:8013 {source="MONDO:equivalentTo"}
xref: MEDGEN:235455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6983 {source="MONDO:equivalentTo", source="DOID:8013"}
xref: UMLS:C1335322 {source="MEDGEN:235455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002979 {source="MONDO:Redundant", source="NCIT:C6983"} ! papillary squamous carcinoma
is_a: MONDO:0006509 {source="DOID:8013", source="MONDO:Entailed", source="NCIT:C6983/inferred"} ! papillary carcinoma
is_a: MONDO:0018352 {source="DOID:8013", source="MONDO:Redundant", source="NCIT:C6983"} ! squamous cell carcinoma of penis
intersection_of: MONDO:0006509 ! papillary carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0004434
name: obsolete glomangiomyoma
is_obsolete: true
replaced_by: MONDO:0002299

[Term]
id: MONDO:0004435
name: liver fibrosarcoma
def: "A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C5832]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibrosarcoma of liver" EXACT [NCIT:C5832]
synonym: "fibrosarcoma of the liver" EXACT [NCIT:C5832]
synonym: "hepatic fibrosarcoma" EXACT [NCIT:C5832]
synonym: "liver fibrosarcoma" EXACT [NCIT:C5832]
synonym: "liver fibrosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8022 {source="MONDO:equivalentTo"}
xref: MEDGEN:232274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5832 {source="MONDO:equivalentTo", source="DOID:8022", source="MONDO:exact-label-match"}
xref: UMLS:C1333966 {source="MEDGEN:232274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002397 {source="DOID:8022", source="MONDO:Redundant", source="NCIT:C5832"} ! liver sarcoma
is_a: MONDO:0005164 {source="DOID:8022", source="MONDO:Redundant", source="NCIT:C5832/inferred"} ! fibrosarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0004436
name: ovarian myxoid liposarcoma
def: "A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma." [NCIT:C5235]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myxoid liposarcoma of ovary" EXACT [DOID:8023, NCIT:C5235]
synonym: "myxoid liposarcoma of the ovary" EXACT [NCIT:C5235]
synonym: "ovarian myxoid liposarcoma" EXACT [NCIT:C5235]
synonym: "ovary myxoid liposarcoma" EXACT [MONDO:patterns/location]
xref: DOID:8023 {source="MONDO:equivalentTo"}
xref: MEDGEN:235420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5235 {source="MONDO:equivalentTo", source="DOID:8023"}
xref: UMLS:C1335170 {source="MEDGEN:235420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003589 {source="DOID:8023", source="MONDO:Redundant", source="NCIT:C5235"} ! liposarcoma of the ovary
is_a: MONDO:0013280 {source="DOID:8023", source="MONDO:Redundant", source="NCIT:C5235"} ! myxoid liposarcoma
intersection_of: MONDO:0013280 ! myxoid liposarcoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0004437
name: obsolete gastric signet ring cell adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006409

[Term]
id: MONDO:0004438
name: sporadic breast cancer
def: "A carcinoma that arises from the breast and is not caused by inherited genetic mutations." [NCIT:P378]
synonym: "sporadic breast cancer" EXACT [NCIT:C7566]
synonym: "sporadic breast carcinoma" EXACT [NCIT:C7566]
xref: DOID:8029 {source="MONDO:equivalentTo"}
xref: MEDGEN:233463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7566 {source="DOID:8029", source="MONDO:equivalentTo"}
xref: UMLS:C1336076 {source="MEDGEN:233463", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004989 {source="DOID:8029", source="NCIT:C7566"} ! breast carcinoma

[Term]
id: MONDO:0004439
name: periocular meningioma
def: "A meningioma that affects the periocular region." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:8030 {source="MONDO:equivalentTo"}
xref: MEDGEN:233849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6777 {source="MONDO:equivalentTo", source="DOID:8030"}
xref: UMLS:C1335383 {source="MEDGEN:233849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016642 {source="DOID:8030", source="NCIT:C6777/inferred"} ! meningioma

[Term]
id: MONDO:0004440
name: pineal region meningioma
def: "A meningioma that affects the pineal gland." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of pineal body" EXACT []
synonym: "meningioma of pineal area" EXACT [NCIT:C6756]
synonym: "meningioma of pineal gland" EXACT [NCIT:C6756]
synonym: "meningioma of pineal region" EXACT [NCIT:C6756]
synonym: "meningioma of the pineal area" EXACT [NCIT:C6756]
synonym: "meningioma of the pineal gland" EXACT [NCIT:C6756]
synonym: "meningioma of the pineal region" EXACT [NCIT:C6756]
synonym: "pineal area meningioma" EXACT [NCIT:C6756]
synonym: "pineal body meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "pineal gland meningioma" EXACT [NCIT:C6756]
synonym: "pineal meningioma" EXACT [DOID:8031, NCIT:C6756]
xref: DOID:8031 {source="MONDO:equivalentTo"}
xref: MEDGEN:235478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6756 {source="MONDO:equivalentTo", source="DOID:8031"}
xref: UMLS:C1335418 {source="MONDO:equivalentTo", source="MEDGEN:235478", source="MONDO:MEDGEN"}
is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C6756"} ! pineal body neoplasm
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0001905 ! pineal body
relationship: excluded_subClassOf MONDO:0003249 {source="DOID:8031", source="https://orcid.org/0000-0001-5208-3432"} ! pineal gland cancer

[Term]
id: MONDO:0004441
name: childhood ovarian embryonal carcinoma
def: "An embryonal carcinoma that arises from the ovary and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood embryonal carcinoma of ovary" EXACT [NCIT:C6546]
synonym: "childhood embryonal carcinoma of the ovary" RELATED [DOID:8036]
synonym: "ovarian embryonal carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric embryonal carcinoma of ovary" EXACT OMO:0003005 []
synonym: "paediatric embryonal carcinoma of the ovary" EXACT OMO:0003005 []
synonym: "paediatric ovarian embryonal carcinoma" EXACT OMO:0003005 []
synonym: "pediatric embryonal carcinoma of ovary" EXACT [DOID:8036, NCIT:C6546]
synonym: "pediatric embryonal carcinoma of the ovary" EXACT [NCIT:C6546]
synonym: "pediatric ovarian embryonal carcinoma" EXACT [MONDO:patterns/childhood, NCIT:C6546]
xref: DOID:8036 {source="MONDO:equivalentTo"}
xref: MEDGEN:232352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6546 {source="MONDO:equivalentTo", source="DOID:8036"}
xref: UMLS:C1332989 {source="MEDGEN:232352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003581 {source="DOID:8036", source="MONDO:Redundant", source="NCIT:C6546"} ! ovarian embryonal carcinoma
intersection_of: MONDO:0003581 ! ovarian embryonal carcinoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004442
name: testis polyembryoma
def: "A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "polyembryoma of testis" EXACT [DOID:8042, NCIT:C40962]
synonym: "polyembryoma of the testis" EXACT [NCIT:C40962]
synonym: "testicular polyembryoma" EXACT [NCIT:C40962]
xref: DOID:8042 {source="MONDO:equivalentTo"}
xref: MEDGEN:271324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40962 {source="MONDO:equivalentTo", source="DOID:8042"}
xref: UMLS:C1514200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271324"}
is_a: MONDO:0003510 {source="DOID:8042", source="NCIT:C40962"} ! malignant testicular germ cell tumor
is_a: MONDO:0015863 {source="NCIT:C40962"} ! polyembryoma

[Term]
id: MONDO:0004443
name: chest wall parachordoma
def: "A parachordoma arising from the chest wall." [NCIT:C6720]
synonym: "chest wall parachordoma" EXACT [MONDO:patterns/location, NCIT:C6720]
synonym: "parachordoma of chest wall" EXACT [NCIT:C6720]
synonym: "parachordoma of the chest wall" EXACT [DOID:8043, NCIT:C6720]
xref: DOID:8043 {source="MONDO:equivalentTo"}
xref: MEDGEN:232339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6720 {source="MONDO:equivalentTo", source="DOID:8043"}
xref: UMLS:C1332934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232339"}
is_a: MONDO:0006351 {source="DOID:8043", source="MONDO:Redundant", source="NCIT:C6720"} ! parachordoma
is_a: MONDO:0021388 {source="MONDO:Redundant", source="NCIT:C6720"} ! neoplasm of chest wall
intersection_of: MONDO:0006351 ! parachordoma
intersection_of: disease_has_location UBERON:0016435 ! chest wall

[Term]
id: MONDO:0004444
name: bladder tubulo-cystic clear cell adenocarcinoma
def: "A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern." [NCIT:C39847]
synonym: "bladder tubulo-cystic clear cell adenocarcinoma" EXACT [NCIT:C39847]
xref: DOID:8050 {source="MONDO:equivalentTo"}
xref: MEDGEN:267060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39847 {source="MONDO:equivalentTo", source="DOID:8050", source="NCIT:C39847"}
xref: UMLS:C1511203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267060"}
is_a: MONDO:0003386 {source="DOID:8050", source="NCIT:C39847"} ! bladder clear cell adenocarcinoma

[Term]
id: MONDO:0004445
name: bladder papillary clear cell adenocarcinoma
def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern." [NCIT:C39848]
synonym: "bladder papillary clear cell adenocarcinoma" EXACT [NCIT:C39848]
xref: DOID:8051 {source="MONDO:equivalentTo"}
xref: MEDGEN:307286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39848 {source="DOID:8051", source="MONDO:equivalentTo", source="NCIT:C39848"}
xref: UMLS:C1511196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307286"}
is_a: MONDO:0003386 {source="DOID:8051", source="NCIT:C39848"} ! bladder clear cell adenocarcinoma

[Term]
id: MONDO:0004446
name: olfactory groove meningioma
def: "A meningioma that affects the olfactory sulcus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of olfactory sulcus" EXACT []
synonym: "meningioma of olfactory groove" EXACT [NCIT:C6771]
synonym: "meningioma of the olfactory groove" EXACT [DOID:8057, NCIT:C6771]
synonym: "olfactory sulcus meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8057 {source="MONDO:equivalentTo"}
xref: MEDGEN:235402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008579 {source="DOID:8057"}
xref: NCIT:C6771 {source="MONDO:equivalentTo", source="DOID:8057"}
xref: UMLS:C1335107 {source="MEDGEN:235402", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002997 {source="DOID:8057", source="NCIT:C6771"} ! anterior cranial fossa meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0002772 ! olfactory sulcus

[Term]
id: MONDO:0004447
name: pituitary stalk meningioma
def: "A meningioma that affects the pituitary stalk." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of pituitary stalk" EXACT []
synonym: "meningioma of pituitary stalk" EXACT [NCIT:C5311]
synonym: "meningioma of the pituitary stalk" EXACT [DOID:8058, NCIT:C5311]
synonym: "pituitary stalk meningioma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8058 {source="MONDO:equivalentTo"}
xref: MEDGEN:233858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5311 {source="MONDO:equivalentTo", source="DOID:8058"}
xref: UMLS:C1335422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233858"}
is_a: MONDO:0002997 {source="NCIT:C5311"} ! anterior cranial fossa meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0002434 ! pituitary stalk

[Term]
id: MONDO:0004448
name: frontal sinus inverted papilloma
def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "frontal sinus inverted papilloma" EXACT [MONDO:patterns/location]
synonym: "inverted papilloma of frontal sinus" EXACT [NCIT:C6842]
synonym: "inverted papilloma of the frontal sinus" EXACT [DOID:8060, NCIT:C6842]
xref: DOID:8060 {source="MONDO:equivalentTo"}
xref: MEDGEN:272638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6842 {source="DOID:8060", source="MONDO:equivalentTo"}
xref: UMLS:C1333644 {source="MEDGEN:272638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001757 {source="DOID:8060", source="MONDO:Redundant", source="NCIT:C6842/inferred"} ! frontal sinus neoplasm
is_a: MONDO:0002537 {source="DOID:8060", source="MONDO:Redundant", source="NCIT:C6842/inferred"} ! inverted papilloma
is_a: MONDO:0003752 {source="NCIT:C6842"} ! frontal sinus Schneiderian papilloma
is_a: MONDO:0021483 {source="MONDO:Redundant", source="NCIT:C6842/inferred"} ! benign neoplasm of frontal sinus
intersection_of: MONDO:0002537 ! inverted papilloma
intersection_of: disease_has_location UBERON:0001760 ! frontal sinus

[Term]
id: MONDO:0004449
name: intraductal breast myoepitheliosis
def: "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts." [NCIT:P378]
xref: DOID:8068 {source="MONDO:equivalentTo"}
xref: MEDGEN:268972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40387 {source="MONDO:equivalentTo", source="DOID:8068"}
xref: UMLS:C1512935 {source="MEDGEN:268972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004262 {source="DOID:8068", source="NCIT:C40387"} ! breast myoepitheliosis

[Term]
id: MONDO:0004450
name: carotid artery occlusion
def: "A occlusion precerebral artery that involves the carotid artery segment." [MONDO:design_pattern]
synonym: "carotid artery segment occlusion precerebral artery" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "occlusion and stenosis of carotid artery" EXACT [DOID:807]
synonym: "occlusion precerebral artery of carotid artery segment" EXACT [MONDO:design_pattern]
xref: DOID:807 {source="MONDO:equivalentTo"}
xref: ICD9:433.10 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:807"}
xref: MEDGEN:539079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:266254007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539079"}
is_a: MONDO:0003718 {source="DOID:807", source="MONDO:Redundant"} ! occlusion precerebral artery
intersection_of: MONDO:0003718 ! occlusion precerebral artery
intersection_of: disease_has_location UBERON:0005396 ! carotid artery segment

[Term]
id: MONDO:0004451
name: sarcomatous intrahepatic cholangiocarcinoma
def: "A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intrahepatic cholangiocarcinoma with extensive sarcomatous changes" EXACT [NCIT:C41620]
synonym: "sarcomatoid intrahepatic cholangiocarcinoma" EXACT [NCIT:C41620]
xref: DOID:8072 {source="MONDO:equivalentTo"}
xref: MEDGEN:275403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41620 {source="MONDO:equivalentTo", source="DOID:8072"}
xref: UMLS:C1519184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275403"}
is_a: MONDO:0003210 {source="DOID:8072", source="NCIT:C41620"} ! intrahepatic cholangiocarcinoma

[Term]
id: MONDO:0004452
name: childhood central nervous system germinoma
def: "A germinoma arising from the central nervous system during childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Central nervous system germinoma" BROAD [NCIT:C27406]
synonym: "central nervous system germinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric central nervous system germinoma" EXACT OMO:0003005 []
synonym: "pediatric central nervous system germinoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:8078 {source="MONDO:equivalentTo"}
xref: MEDGEN:272460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27406 {source="MONDO:equivalentTo", source="DOID:8078"}
xref: UMLS:C1332953 {source="MONDO:equivalentTo", source="MEDGEN:272460", source="MONDO:MEDGEN"}
is_a: MONDO:0002999 {source="DOID:8078", source="MONDO:Redundant", source="NCIT:C27406"} ! central nervous system germinoma
intersection_of: MONDO:0002999 ! central nervous system germinoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004453
name: testicular yolk sac tumor, myxomatous pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli." [NCIT:C39929]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myxomatous pattern testicular yolk sac tumor" RELATED [DOID:8081]
synonym: "myxomatous pattern testicular yolk sac tumour" RELATED OMO:0003005 []
synonym: "testicular yolk sac tumor, myxomatous pattern" EXACT [NCIT:C39929]
xref: DOID:8081 {source="MONDO:equivalentTo"}
xref: MEDGEN:271774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39929 {source="NCIT:C39929", source="DOID:8081", source="MONDO:equivalentTo"}
xref: UMLS:C1515309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271774"}
is_a: MONDO:0003402 {source="DOID:8081", source="NCIT:C39929"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004454
name: cellular congenital mesoblastic nephroma
def: "A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present." [NCIT:C39815]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cellular congenital mesoblastic nephroma" EXACT [NCIT:C39815]
xref: DOID:8082 {source="MONDO:equivalentTo"}
xref: MEDGEN:729112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39815 {source="DOID:8082", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1320471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:729112"}
is_a: MONDO:0017043 {source="DOID:8082", source="NCIT:C39815"} ! congenital mesoblastic nephroma

[Term]
id: MONDO:0004455
name: classic congenital mesoblastic nephroma
def: "A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation." [NCIT:C39814]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "classic congenital mesoblastic nephroma" EXACT [NCIT:C39814]
xref: DOID:8083 {source="MONDO:equivalentTo"}
xref: MEDGEN:273923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39814 {source="MONDO:equivalentTo", source="DOID:8083", source="MONDO:exact-label-match"}
xref: UMLS:C1516475 {source="MEDGEN:273923", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017043 {source="DOID:8083", source="NCIT:C39814"} ! congenital mesoblastic nephroma

[Term]
id: MONDO:0004456
name: cocaine abuse
def: "Disorders related or resulting from use of cocaine." [MESH:D019970]
xref: DOID:809 {source="MONDO:equivalentTo"}
xref: ICD10CM:F14.1 {source="DOID:809"}
xref: ICD9:305.6 {source="DOID:809"}
xref: ICD9:305.60 {source="DOID:809"}
xref: MEDGEN:3136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019970 {source="DOID:809"}
xref: SCTID:78267003 {source="MONDO:equivalentTo", source="DOID:809"}
xref: UMLS:C0009171 {source="MONDO:equivalentTo", source="MEDGEN:3136", source="MONDO:MEDGEN"}
is_a: MONDO:0002491 {source="DOID:809", source="MONDO:Redundant"} ! substance abuse
intersection_of: MONDO:0002491 ! substance abuse
intersection_of: realized_in_response_to_stimulus CHEBI:27958 ! cocaine

[Term]
id: MONDO:0004457
name: maxillary sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6839]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "maxillary sinus paranasal sinus Schneiderian papilloma" EXACT [MONDO:patterns/location]
synonym: "maxillary sinus Schneiderian papilloma" EXACT [NCIT:C6839]
synonym: "paranasal sinus Schneiderian papilloma of maxillary sinus" EXACT [MONDO:design_pattern]
synonym: "Schneiderian papilloma of maxillary sinus" RELATED [NCIT:C6839]
synonym: "Schneiderian papilloma of the maxillary sinus" EXACT [DOID:8093, NCIT:C6839]
xref: DOID:8093 {source="MONDO:equivalentTo"}
xref: MEDGEN:235306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6839 {source="DOID:8093", source="MONDO:equivalentTo"}
xref: UMLS:C1334646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235306"}
is_a: MONDO:0006353 {source="MONDO:Redundant", source="NCIT:C6839"} ! paranasal sinus Schneiderian papilloma
is_a: MONDO:0006850 {source="DOID:8093", source="MONDO:Redundant", source="NCIT:C6839/inferred"} ! maxillary sinus neoplasm
is_a: MONDO:0021484 {source="MONDO:Redundant", source="NCIT:C6839"} ! benign neoplasm of maxillary sinus
intersection_of: MONDO:0006353 ! paranasal sinus Schneiderian papilloma
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0004458
name: bladder mixed adenocarcinoma
subset: otar {source="MONDO:OTAR"}
xref: DOID:8096 {source="MONDO:equivalentTo"}
xref: MEDGEN:267372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39839 {source="MONDO:equivalentTo", source="DOID:8096"}
xref: UMLS:C1511192 {source="MEDGEN:267372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002751 {source="DOID:8096", source="NCIT:C39839"} ! bladder adenocarcinoma

[Term]
id: MONDO:0004459
name: bladder hepatoid adenocarcinoma
def: "A hepatoid adenocarcinoma that involves the urinary bladder." [MONDO:patterns/location]
synonym: "bladder hepatoid adenocarcinoma" EXACT [NCIT:C39838]
xref: DOID:8097 {source="MONDO:equivalentTo"}
xref: MEDGEN:267739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39838 {source="MONDO:equivalentTo", source="DOID:8097", source="NCIT:C39838"}
xref: UMLS:C1511189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267739"}
is_a: MONDO:0002751 {source="DOID:8097", source="MONDO:Redundant", source="NCIT:C39838"} ! bladder adenocarcinoma
is_a: MONDO:0006243 {source="DOID:8097", source="MONDO:Redundant", source="NCIT:C39838"} ! hepatoid adenocarcinoma
intersection_of: MONDO:0006243 ! hepatoid adenocarcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0004460
name: thyroid gland fetal adenoma
def: "A thyroid gland adenoma composed of microfollicular structures." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fetal adenoma" RELATED EXCLUDE [DOID:8102]
synonym: "foetal adenoma" RELATED OMO:0003005 []
synonym: "microfollicular adenoma" EXACT [NCIT:C4160]
synonym: "microfollicular adenoma (morphologic abnormality)" EXACT [DOID:8102]
synonym: "thyroid fetal adenoma" EXACT [NCIT:C4160]
synonym: "thyroid foetal adenoma" EXACT OMO:0003005 []
synonym: "thyroid gland microfollicular adenoma" EXACT [NCIT:C4160]
xref: DOID:8102 {source="MONDO:equivalentTo"}
xref: ICDO:8333/0 {source="NCIT:C4160"}
xref: MEDGEN:137743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4160 {source="MONDO:equivalentTo", source="DOID:8102"}
xref: SCTID:30301008 {source="DOID:8102"}
xref: UMLS:C0334328 {source="MONDO:equivalentTo", source="MEDGEN:137743", source="MONDO:MEDGEN"}
is_a: MONDO:0005032 {source="DOID:8102", source="NCIT:C4160"} ! follicular thyroid adenoma

[Term]
id: MONDO:0004461
name: vaginal tubulovillous adenoma
def: "An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern." [NCIT:C40258]
synonym: "vaginal tubulovillous adenoma" EXACT [NCIT:C40258]
xref: DOID:8104 {source="MONDO:equivalentTo"}
xref: MEDGEN:275576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40258 {source="DOID:8104", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275576"}
is_a: MONDO:0003434 {source="DOID:8104", source="MONDO:Redundant", source="NCIT:C40258"} ! vaginal adenoma
is_a: MONDO:0024661 {source="NCIT:C40258"} ! tubulovillous adenoma
intersection_of: MONDO:0024661 ! tubulovillous adenoma
intersection_of: disease_has_location UBERON:0000996 ! vagina
relationship: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0004462
name: extrahepatic bile duct cystadenoma
def: "A mucinous cystic neoplasm that arises from the extrahepatic bile ducts." [NCIT:P378]
synonym: "cystadenoma of extrahepatic bile duct" EXACT [NCIT:C5851]
synonym: "cystadenoma of the extrahepatic bile duct" EXACT [DOID:8105, NCIT:C5851]
synonym: "extrahepatic bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C5851]
synonym: "extrahepatic bile duct mucinous cystic neoplasm" EXACT [NCIT:C5851]
xref: DOID:8105 {source="MONDO:equivalentTo"}
xref: MEDGEN:272603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5851 {source="DOID:8105", source="MONDO:equivalentTo"}
xref: UMLS:C1333504 {source="MEDGEN:272603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003420 {source="DOID:8105", source="MONDO:Redundant", source="NCIT:C5851"} ! bile duct cystadenoma
is_a: MONDO:0003445 {source="DOID:8105", source="MONDO:Redundant"} ! extrahepatic bile duct adenoma
intersection_of: MONDO:0002369 ! cystadenoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0004463
name: cellular phase chronic idiopathic myelofibrosis
def: "Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chronic idiopathic myelofibrosis, cellular phase" EXACT [NCIT:C41237]
synonym: "chronic idiopathic myelofibrosis, Prefibrotic stage" EXACT [NCIT:C41237]
synonym: "PMFPES" RELATED ABBREVIATION [ONCOTREE:PMFPES]
synonym: "Prefibrotic/Early Primary myelofibrosis" EXACT [NCIT:C41237]
synonym: "primary myelofibrosis, Prefibrotic stage" EXACT [NCIT:C41237]
synonym: "primary myelofibrosis, Prefibrotic/early stage" EXACT [NCIT:C41237]
xref: DOID:8106 {source="MONDO:equivalentTo"}
xref: MEDGEN:275741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41237 {source="DOID:8106", source="MONDO:equivalentTo"}
xref: ONCOTREE:PMFPES {source="MONDO:equivalentTo"}
xref: UMLS:C1516553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275741"}
is_a: MONDO:0009692 {source="DOID:8106", source="NCIT:C41237", source="ONCOTREE:PMFPES"} ! primary myelofibrosis
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0004464
name: nephrogenic adenoma of the urethra
def: "A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." [NCIT:P378]
synonym: "nephrogenic adenoma of urethra" EXACT [DOID:8109, NCIT:C7416]
synonym: "urethra nephrogenic adenoma" EXACT [MONDO:patterns/location]
synonym: "urethral nephrogenic adenoma" EXACT [NCIT:C7416]
xref: DOID:8109 {source="MONDO:equivalentTo"}
xref: MEDGEN:277847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7416 {source="DOID:8109", source="MONDO:equivalentTo"}
xref: UMLS:C1336889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277847"}
is_a: MONDO:0004177 {source="DOID:8109", source="MONDO:Entailed", source="MONDO:Redundant"} ! benign urethral neoplasm
is_a: MONDO:0004191 {source="DOID:8109", source="MONDO:Redundant", source="NCIT:C7416"} ! nephrogenic adenoma
intersection_of: MONDO:0004191 ! nephrogenic adenoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0004465
name: periampullary adenocarcinoma
def: "An adenocarcinoma that arises from the periampullary region." [NCIT:C27322]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "periampullary adenocarcinoma" EXACT [NCIT:C27322]
synonym: "periampullary cancer" EXACT [NCIT:C27322]
synonym: "periampullary region of duodenum adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:8110 {source="MONDO:equivalentTo"}
xref: MEDGEN:233847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27322 {source="MONDO:equivalentTo", source="DOID:8110", source="MONDO:exact-label-match"}
xref: UMLS:C1335377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233847"}
is_a: MONDO:0002670 {source="DOID:8110"} ! ampulla of vater adenocarcinoma
is_a: MONDO:0006186 {source="DOID:8110/inferred", source="MONDO:Redundant", source="NCIT:C27322"} ! duodenal adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0012273 ! periampullary region of duodenum

[Term]
id: MONDO:0004466
name: neuronitis
comment: Editor note: check this
synonym: "neuroinflammation" RELATED [Wikipedia:Neuroinflammation]
xref: DOID:8117 {source="MONDO:equivalentTo"}
xref: MEDGEN:45064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34847 {source="DOID:8117", source="MONDO:equivalentTo"}
xref: UMLS:C0027881 {source="MONDO:equivalentTo", source="MEDGEN:45064", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="DOID:8117/inferred", source="MONDO:Redundant", source="NCIT:C34847/inferred"} ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site CL:0000540 ! neuron

[Term]
id: MONDO:0004467
name: mature gastric teratoma
def: "A benign teratoma that arises from the stomach." [NCIT:C5260]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mature gastric teratoma" EXACT [NCIT:C5260]
synonym: "mature teratoma of stomach" EXACT [DOID:8118, NCIT:C5260]
synonym: "mature teratoma of the stomach" EXACT [NCIT:C5260]
synonym: "stomach mature teratoma" EXACT [MONDO:patterns/location]
xref: DOID:8118 {source="MONDO:equivalentTo"}
xref: MEDGEN:233165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5260 {source="DOID:8118", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334635 {source="MEDGEN:233165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003513 {source="DOID:8118", source="MONDO:Redundant", source="NCIT:C5260"} ! gastric teratoma
is_a: MONDO:0003517 {source="DOID:8118", source="MONDO:Redundant", source="NCIT:C5260"} ! mature teratoma
intersection_of: MONDO:0003517 ! mature teratoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0004468
name: anal canal Paget disease
def: "Paget disease involving the squamous epithelium of the anal canal." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal canal mammary Paget's disease" EXACT [MONDO:patterns/location]
synonym: "anal canal Paget disease" EXACT [DOID:8119, MONDO:patterns/location]
synonym: "anal canal Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C7477]
synonym: "Paget disease of the anal canal" EXACT [NCIT:C7477]
synonym: "Paget's disease of anal canal" EXACT [DOID:8119, NCIT:C7477]
synonym: "Paget's disease of the anal canal" EXACT [DOID:8119, NCIT:C7477]
xref: DOID:8119 {source="MONDO:equivalentTo"}
xref: MEDGEN:231062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7477 {source="DOID:8119", source="MONDO:equivalentTo"}
xref: SCTID:236811000119101 {source="MONDO:equivalentTo"}
xref: UMLS:C1332261 {source="MEDGEN:231062", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002651 {source="MONDO:Redundant", source="NCIT:C7477"} ! anal Paget disease
is_a: MONDO:0002735 {source="DOID:8119", source="MONDO:Redundant", source="NCIT:C7477"} ! anal canal adenocarcinoma
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C7477/inferred"} ! Paget disease
intersection_of: MONDO:0021165 ! Paget disease
intersection_of: disease_has_location UBERON:0000159 ! anal canal

[Term]
id: MONDO:0004469
name: pseudovascular skin squamous cell carcinoma
synonym: "pseudovascular skin squamous cell carcinoma" EXACT [NCIT:C27542]
synonym: "skin pseudovascular squamous cell carcinoma" RELATED [NCIT:C27542]
xref: DOID:8122 {source="MONDO:equivalentTo"}
xref: MEDGEN:233447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27542 {source="MONDO:equivalentTo", source="DOID:8122"}
xref: UMLS:C1335974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233447"}
is_a: MONDO:0002529 {source="DOID:8122", source="NCIT:C27542"} ! skin squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C27542"} ! keratinizing squamous cell carcinoma

[Term]
id: MONDO:0004470
name: obsolete osteochondrosis
is_obsolete: true
replaced_by: MONDO:0018381

[Term]
id: MONDO:0004471
name: bacterial arthritis
def: "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." [NCIT:C26699]
subset: otar {source="MONDO:OTAR"}
synonym: "infectious arthritis" BROAD [DOID:813]
synonym: "pyogenic arthritis" EXACT [NCIT:C26699]
synonym: "septic arthritis" EXACT [NCIT:C26699]
xref: DOID:813 {source="MONDO:equivalentTo"}
xref: EFO:1001351 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M00 {source="DOID:813"}
xref: ICD10CM:M00.9 {source="DOID:813"}
xref: ICD9:711.0 {source="DOID:813"}
xref: ICD9:711.40 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:711.9 {source="DOID:813"}
xref: ICD9:711.90 {source="DOID:813"}
xref: ICD9:711.91 {source="DOID:813"}
xref: ICD9:711.92 {source="DOID:813"}
xref: ICD9:711.93 {source="DOID:813"}
xref: ICD9:711.94 {source="DOID:813"}
xref: ICD9:711.95 {source="DOID:813"}
xref: ICD9:711.96 {source="DOID:813"}
xref: ICD9:711.97 {source="DOID:813"}
xref: MEDGEN:308434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001170 {source="DOID:813", source="MONDO:equivalentTo"}
xref: NANDO:2200437 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26699 {source="MONDO:equivalentTo"}
xref: NCIT:C26700 {source="DOID:813", source="MONDO:directSiblingOf"}
xref: SCTID:156470005 {source="DOID:813"}
xref: SCTID:196415003 {source="DOID:813"}
xref: SCTID:201455003 {source="DOID:813"}
xref: SCTID:201471003 {source="DOID:813"}
xref: SCTID:201591007 {source="DOID:813"}
xref: SCTID:201592000 {source="DOID:813"}
xref: SCTID:201593005 {source="DOID:813"}
xref: SCTID:201594004 {source="DOID:813"}
xref: SCTID:201595003 {source="DOID:813"}
xref: SCTID:201596002 {source="DOID:813"}
xref: SCTID:201597006 {source="DOID:813"}
xref: SCTID:201598001 {source="DOID:813"}
xref: SCTID:201599009 {source="DOID:813"}
xref: SCTID:201623005 {source="DOID:813"}
xref: SCTID:239776008 {source="DOID:813"}
xref: SCTID:371412008 {source="DOID:813"}
xref: SCTID:372938004 {source="DOID:813"}
xref: SCTID:372939007 {source="DOID:813"}
xref: SCTID:396234004 {source="DOID:813"}
xref: SCTID:428437005 {source="DOID:813"}
xref: SCTID:48245008 {source="MONDO:equivalentTo"}
xref: SCTID:48548006 {source="DOID:813"}
xref: SCTID:55388007 {source="DOID:813"}
xref: SCTID:83486002 {source="DOID:813"}
xref: UMLS:C1692886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308434"}
is_a: MONDO:0005578 {source="DOID:813", source="EFO:1001351", source="MESH:D001170", source="MONDO:0004471/inferred", source="NCIT:C26699/inferred"} ! arthritic joint disease
intersection_of: MONDO:0005578 ! arthritic joint disease
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria

[Term]
id: MONDO:0004472
name: breast columnar cell mucinous carcinoma
def: "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified." [NCIT:C40355]
synonym: "breast columnar cell mucinous carcinoma" EXACT [NCIT:C40355]
xref: DOID:8130 {source="MONDO:equivalentTo"}
xref: MEDGEN:307307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40355 {source="MONDO:equivalentTo", source="DOID:8130", source="MONDO:exact-label-match"}
xref: UMLS:C1511305 {source="MEDGEN:307307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002707 {source="DOID:8130"} ! breast mucinous carcinoma
is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C40355"} ! mucinous adenocarcinoma
is_a: MONDO:0004988 {source="DOID:8130/inferred", source="MONDO:Redundant", source="NCIT:C40355"} ! breast adenocarcinoma
is_a: MONDO:0006256 {source="MONDO:Redundant", source="NCIT:C40355"} ! invasive breast carcinoma

[Term]
id: MONDO:0004473
name: epiglottis cancer
def: "A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas." [NCIT:C4836]
synonym: "cancer of epiglottis" EXACT [MONDO:patterns/cancer]
synonym: "epiglottic cancer" EXACT [DOID:8133, NCIT:C35697]
synonym: "epiglottic carcinoma" NARROW [NCIT:C35697]
synonym: "epiglottic throat cancer" EXACT [NCIT:C35697]
synonym: "epiglottis cancer" EXACT [MONDO:patterns/location]
synonym: "malignant epiglottic neoplasm" EXACT [NCIT:C4836]
synonym: "malignant epiglottic tumor" EXACT [NCIT:C4836]
synonym: "malignant epiglottic tumour" EXACT OMO:0003005 []
synonym: "malignant Epiglottis neoplasm" EXACT [NCIT:C4836]
synonym: "malignant epiglottis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Epiglottis tumor" EXACT [NCIT:C4836]
synonym: "malignant Epiglottis tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of anterior aspect of epiglottis" NARROW [DOID:8133]
synonym: "malignant neoplasm of anterior epiglottis" EXACT [DOID:8133]
synonym: "malignant neoplasm of anterior surface of epiglottis" NARROW [DOID:8133, MTH:U001374]
synonym: "malignant neoplasm of Epiglottis" EXACT [NCIT:C4836]
synonym: "malignant neoplasm of epiglottis" EXACT [DOID:8133, MONDO:patterns/cancer]
synonym: "malignant neoplasm of the Epiglottis" EXACT [NCIT:C4836]
synonym: "malignant tumor of Epiglottis" EXACT [DOID:8133, NCIT:C4836]
synonym: "malignant tumor of the Epiglottis" EXACT [NCIT:C4836]
synonym: "malignant tumour of Epiglottis" EXACT OMO:0003005 []
synonym: "malignant tumour of the Epiglottis" EXACT OMO:0003005 []
xref: DOID:8133 {source="MONDO:equivalentTo"}
xref: ICD10CM:C10.1 {source="MONDO:equivalentTo", source="DOID:8133"}
xref: ICD9:146.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8133"}
xref: MEDGEN:249035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35697 {source="MONDO:equivalentTo", source="DOID:8133"}
xref: NCIT:C4836 {source="MONDO:equivalentTo", source="DOID:8133"}
xref: SCTID:187681002 {source="MONDO:equivalentTo", source="DOID:8133"}
xref: SCTID:187684005 {source="DOID:8133"}
xref: SCTID:187849008 {source="DOID:8133"}
xref: SCTID:308120004 {source="DOID:8133"}
xref: SCTID:93670003 {source="DOID:8133"}
xref: SCTID:93784003 {source="DOID:8133"}
xref: UMLS:C1112382 {source="MEDGEN:249035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001724 {source="DOID:8133", source="MONDO:Entailed", source="NCIT:C35697/inferred", source="NCIT:C4836"} ! supraglottis cancer
is_a: MONDO:0004109 {source="MONDO:Redundant", source="NCIT:C35697/inferred", source="NCIT:C4836"} ! epiglottis neoplasm
is_a: MONDO:0004357 {source="NCIT:C35697"} ! carcinoma of supraglottis
is_a: MONDO:0004608 {source="ICD10CM:C10.1", source="https://orcid.org/0000-0001-5208-3432"} ! oropharynx cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000388 ! epiglottis

[Term]
id: MONDO:0004474
name: gallbladder lymphoma
def: "A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site." [NCIT:C5734]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gall bladder lymphoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder lymphoma" EXACT [NCIT:C5734]
synonym: "lymphoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "lymphoma of gallbladder" EXACT [NCIT:C5734]
synonym: "lymphoma of the gallbladder" EXACT [DOID:8135, NCIT:C5734]
synonym: "primary gallbladder lymphoma" EXACT [NCIT:C5734]
xref: DOID:8135 {source="MONDO:equivalentTo"}
xref: MEDGEN:232224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5734 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8135"}
xref: UMLS:C1333748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232224"}
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C5734"} ! gastrointestinal lymphoma
is_a: MONDO:0005411 {source="DOID:8135", source="MONDO:Redundant", source="NCIT:C5734"} ! gallbladder cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0004475
name: thymus clear cell carcinoma
def: "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm." [NCIT:C6462]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "clear cell carcinoma of the Thymus" EXACT [DOID:8137, NCIT:C6462]
synonym: "clear cell carcinoma of Thymus" EXACT [NCIT:C6462]
synonym: "thymic clear cell carcinoma" EXACT [NCIT:C6462]
synonym: "Thymus clear cell carcinoma" EXACT [NCIT:C6462]
synonym: "thymus clear cell carcinoma" EXACT [NCIT:C6462]
xref: DOID:8137 {source="MONDO:equivalentTo"}
xref: MEDGEN:272488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6462 {source="DOID:8137", source="NCIT:C6462", source="MONDO:equivalentTo"}
xref: UMLS:C1333069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272488"}
is_a: MONDO:0006451 {source="DOID:8137", source="NCIT:C6462"} ! thymic carcinoma

[Term]
id: MONDO:0004476
name: obsolete thymus sarcomatoid carcinoma
def: "OBSOLETE. A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." [NCIT:C6463]
is_obsolete: true
replaced_by: MONDO:0006452

[Term]
id: MONDO:0004477
name: adrenal gland ganglioneuroblastoma
def: "A ganglioneuroblastoma arising from the adrenal gland." [NCIT:C7646]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adrenal ganglioneuroblastoma" EXACT [NCIT:C7646]
synonym: "adrenal gland ganglioneuroblastoma" EXACT [NCIT:C7646]
synonym: "adrenal gland ganglioneuroblastoma (disease)" EXACT [MONDO:patterns/location]
synonym: "ganglioneuroblastoma (disease) of adrenal gland" EXACT []
xref: DOID:8140 {source="MONDO:equivalentTo"}
xref: MEDGEN:231355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7646 {source="MONDO:equivalentTo", source="DOID:8140", source="MONDO:exact-label-match"}
xref: UMLS:C1332176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231355"}
is_a: MONDO:0003327 {source="MONDO:Entailed", source="NCIT:C7646"} ! peripheral ganglioneuroblastoma
is_a: MONDO:0003606 {source="MONDO:Redundant", source="NCIT:C7646"} ! adrenal medulla cancer
is_a: MONDO:0005035 {source="DOID:8140", source="MONDO:Redundant", source="NCIT:C7646/inferred"} ! ganglioneuroblastoma
is_a: MONDO:0006076 {source="DOID:8140"} ! adrenal gland neuroblastoma
intersection_of: MONDO:0005035 ! ganglioneuroblastoma
intersection_of: disease_has_location UBERON:0002369 ! adrenal gland

[Term]
id: MONDO:0004478
name: pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
def: "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene" EXACT [NCIT:C37204]
synonym: "CLL/SLL with unmutated IGVH" EXACT [DOID:8144, NCIT:C37204]
synonym: "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [NCIT:C37204]
xref: DOID:8144 {source="MONDO:equivalentTo"}
xref: MEDGEN:234146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37204 {source="MONDO:equivalentTo", source="DOID:8144"}
xref: UMLS:C1333038 {source="MEDGEN:234146", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003864 {source="DOID:8144", source="NCIT:C37204"} ! chronic lymphocytic leukemia/small lymphocytic lymphoma
relationship: disease_arises_from_structure CL:0000788 {source="NCIT:C37204"} ! naive B cell

[Term]
id: MONDO:0004479
name: malignant childhood germ cell neoplasm
def: "A malignant germ cell tumor that occurs during childhood." [NCIT:C6541]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant childhood germ cell neoplasm" EXACT [NCIT:C6541]
synonym: "malignant childhood germ cell tumor" RELATED [NCIT:C6541]
synonym: "malignant childhood germ cell tumour" RELATED OMO:0003005 []
synonym: "malignant paediatric germ cell neoplasm" RELATED OMO:0003005 []
synonym: "malignant paediatric germ cell tumour" EXACT OMO:0003005 []
synonym: "malignant pediatric germ cell neoplasm" RELATED [NCIT:C6541]
synonym: "malignant pediatric germ cell tumor" EXACT [DOID:8149, NCIT:C6541]
xref: DOID:8149 {source="MONDO:equivalentTo"}
xref: MEDGEN:233150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6541 {source="DOID:8149", source="MONDO:equivalentTo"}
xref: UMLS:C1334574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233150"}
is_a: MONDO:0003751 {source="DOID:8149", source="MONDO:Redundant", source="NCIT:C6541"} ! childhood germ cell tumor
is_a: MONDO:0006290 {source="MONDO:Redundant", source="NCIT:C6541"} ! malignant germ cell tumor
is_a: MONDO:0006517 {source="MONDO:Redundant", source="NCIT:C6541"} ! childhood malignant neoplasm
intersection_of: MONDO:0006290 {source="NCIT:C6541"} ! malignant germ cell tumor
intersection_of: MONDO:0006517 {source="NCIT:C6541"} ! childhood malignant neoplasm

[Term]
id: MONDO:0004480
name: obsolete pancreatic invasive intraductal papillary-mucinous carcinoma
is_obsolete: true
replaced_by: MONDO:0004481

[Term]
id: MONDO:0004481
name: pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma
def: "A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma." [NCIT:C5726]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5726]
synonym: "pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5726]
synonym: "pancreatic invasive intraductal papillary-mucinous carcinoma" EXACT [NCIT:C5726]
xref: DOID:8150 {source="MONDO:equivalentTo"}
xref: ICDO:8453/3 {source="NCIT:C5726"}
xref: MEDGEN:275329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5726 {source="DOID:8150", source="MONDO:equivalentTo"}
xref: UMLS:C1518871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275329"}
is_a: MONDO:0004285 {source="DOID:8150"} ! pancreatic intraductal papillary-mucinous carcinoma
is_a: MONDO:0004286 {source="DOID:8150/inferred", source="NCIT:C5726"} ! pancreatic intraductal papillary-mucinous neoplasm
is_a: MONDO:0006047 {source="DOID:8150/inferred", source="NCIT:C5726"} ! pancreatic adenocarcinoma

[Term]
id: MONDO:0004482
name: fibroosseous pseudotumor of the digits
def: "A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion." [NCIT:C6573]
synonym: "fibroosseous digital pseudotumor" EXACT [DOID:8153, NCIT:C6573]
synonym: "fibroosseous pseudotumor of digits" EXACT [NCIT:C6573]
synonym: "fibroosseous pseudotumor of the digits" EXACT [NCIT:C6573]
xref: DOID:8153 {source="MONDO:equivalentTo"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:232507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6573 {source="MONDO:equivalentTo", source="DOID:8153"}
xref: SCTID:403991009 {source="MONDO:equivalentTo"}
xref: UMLS:C1333612 {source="MEDGEN:232507", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="DOID:8153/inferred", source="NCIT:C6573/inferred"} ! disease
is_a: MONDO:0044335 {source="PMID:2638801"} ! benign soft tissue neoplasm
relationship: disease_has_location UBERON:0002544 ! digit
relationship: excluded_subClassOf MONDO:0000631 {source="DOID:8153", source="https://orcid.org/0000-0001-5208-3432"} ! bone benign neoplasm

[Term]
id: MONDO:0004483
name: thyroid gland oncocytic adenoma
def: "A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli." [NCIT:C6042]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign oncocytoma of the thyroid" EXACT [DOID:8162, NCIT:C6042]
synonym: "benign oncocytoma of the thyroid gland" RELATED [NCIT:C6042]
synonym: "benign oncocytoma of thyroid" RELATED [NCIT:C6042]
synonym: "benign oncocytoma of thyroid gland" RELATED [NCIT:C6042]
synonym: "benign thyroid gland oncocytoma" RELATED [NCIT:C6042]
synonym: "benign thyroid oncocytoma" RELATED [NCIT:C6042]
synonym: "follicular adenoma of the thyroid gland of the oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "follicular adenoma of the thyroid of the oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "follicular adenoma of thyroid gland of oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "follicular adenoma of thyroid of oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma of the thyroid" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma of the thyroid gland" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma of thyroid" RELATED [NCIT:C6042]
synonym: "Hurthle cell adenoma of thyroid gland" RELATED [NCIT:C6042]
synonym: "OAT" BROAD ABBREVIATION [ONCOTREE:OAT]
synonym: "oncocytic adenoma of the thyroid" RELATED [NCIT:C6042]
synonym: "oncocytic adenoma of the thyroid gland" RELATED [NCIT:C6042]
synonym: "oncocytic adenoma of thyroid" RELATED [NCIT:C6042]
synonym: "oncocytic adenoma of thyroid gland" RELATED [NCIT:C6042]
synonym: "thyroid follicular adenoma of oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "thyroid follicular adenoma of the oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "thyroid gland follicular adenoma of oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "thyroid gland follicular adenoma of the oxyphilic cell type" RELATED [NCIT:C6042]
synonym: "thyroid gland Hurthle cell adenoma" RELATED [NCIT:C6042]
synonym: "thyroid gland oncocytic adenoma" EXACT [NCIT:C6042]
synonym: "thyroid Hurthle cell adenoma" RELATED [NCIT:C6042]
synonym: "thyroid oncocytic adenoma" RELATED [NCIT:C6042]
xref: DOID:8162 {source="MONDO:equivalentTo"}
xref: MEDGEN:237009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6042 {source="NCIT:C6042", source="MONDO:equivalentTo", source="DOID:8162"}
xref: ONCOTREE:OAT {source="MONDO:equivalentTo"}
xref: UMLS:C1336750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237009"}
is_a: MONDO:0003424 {source="NCIT:C6042"} ! oncocytic adenoma
is_a: MONDO:0005032 {source="DOID:8162", source="NCIT:C6042"} ! follicular thyroid adenoma

[Term]
id: MONDO:0004484
name: gallbladder melanoma
def: "A melanoma that arises from the gallbladder." [NCIT:C5735]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "gall bladder melanoma" EXACT []
synonym: "gall bladder melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "gallbladder malignant melanoma" EXACT [NCIT:C5735]
synonym: "gallbladder melanoma" EXACT [NCIT:C5735]
synonym: "malignant melanoma of gallbladder" EXACT [DOID:8167, NCIT:C5735]
synonym: "malignant melanoma of the gallbladder" EXACT [NCIT:C5735]
synonym: "melanoma (disease) of gall bladder" EXACT []
synonym: "melanoma of gallbladder" EXACT [NCIT:C5735]
synonym: "melanoma of the gallbladder" EXACT [NCIT:C5735]
xref: DOID:8167 {source="MONDO:equivalentTo"}
xref: MEDGEN:232225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5735 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8167"}
xref: UMLS:C1333749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232225"}
is_a: MONDO:0005105 {source="DOID:8167", source="MONDO:Entailed", source="NCIT:C5735/inferred"} ! melanoma
is_a: MONDO:0005411 {source="DOID:8167", source="MONDO:Redundant", source="NCIT:C5735"} ! gallbladder cancer
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0004485
name: interstitial myocarditis
def: "Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:817 {source="MONDO:equivalentTo"}
xref: MEDGEN:44554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35786 {source="MONDO:equivalentTo", source="DOID:817"}
xref: SCTID:37925008 {source="MONDO:equivalentTo", source="DOID:817"}
xref: UMLS:C0027060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44554"}
is_a: MONDO:0004496 {source="DOID:817", source="NCIT:C35786"} ! myocarditis
relationship: excluded_subClassOf MONDO:0004492 {source="DOID:817", source="https://orcid.org/0000-0001-5208-3432"} ! mediastinitis

[Term]
id: MONDO:0004486
name: endocervical type cervical adenomyoma
def: "An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present." [NCIT:P378]
synonym: "cervical adenomyoma, endocervical type" EXACT [NCIT:C40232]
xref: DOID:8177 {source="MONDO:equivalentTo"}
xref: MEDGEN:275706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40232 {source="MONDO:equivalentTo", source="DOID:8177"}
xref: UMLS:C1516405 {source="MEDGEN:275706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003238 {source="DOID:8177", source="NCIT:C40232"} ! cervical adenomyoma

[Term]
id: MONDO:0004487
name: endometrial type cervical adenomyoma
def: "An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia." [NCIT:P378]
synonym: "cervical adenomyoma, endometrial type" EXACT [NCIT:C40233]
xref: DOID:8178 {source="MONDO:equivalentTo"}
xref: NCIT:C40233 {source="MONDO:equivalentTo", source="DOID:8178"}
is_a: MONDO:0003238 {source="DOID:8178", source="NCIT:C40233"} ! cervical adenomyoma

[Term]
id: MONDO:0004488
name: cervical atypical polypoid adenomyoma
def: "An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity." [NCIT:P378]
xref: DOID:8179 {source="MONDO:equivalentTo"}
xref: MEDGEN:273123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40234 {source="MONDO:equivalentTo", source="DOID:8179"}
xref: UMLS:C1516409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273123"}
is_a: MONDO:0003238 {source="DOID:8179", source="NCIT:C40234"} ! cervical adenomyoma

[Term]
id: MONDO:0004489
name: fallopian tube gestational choriocarcinoma
def: "A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy." [NCIT:C6278]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fallopian tube gestational choriocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6278]
synonym: "gestational choriocarcinoma of fallopian tube" EXACT [NCIT:C6278]
synonym: "gestational choriocarcinoma of the fallopian tube" EXACT [DOID:8186, NCIT:C6278]
xref: DOID:8186 {source="MONDO:equivalentTo"}
xref: MEDGEN:232186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6278 {source="MONDO:equivalentTo", source="DOID:8186", source="MONDO:exact-label-match"}
xref: UMLS:C1333593 {source="MEDGEN:232186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006206 {source="DOID:8186", source="MONDO:Entailed", source="NCIT:C6278"} ! fallopian tube carcinoma
is_a: MONDO:0020550 {source="DOID:8186", source="MONDO:Redundant", source="NCIT:C6278"} ! gestational choriocarcinoma
intersection_of: MONDO:0020550 ! gestational choriocarcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0004490
name: obsolete gestational uterine corpus choriocarcinoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7281" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004491

[Term]
id: MONDO:0004491
name: uterine corpus choriocarcinoma
def: "An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." [NCIT:C27246]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body of uterus choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "body of uterus gestational choriocarcinoma" EXACT [MONDO:patterns/location]
synonym: "choriocarcinoma" RELATED [ONCOTREE:UCCA]
synonym: "gestational choriocarcinoma of body of uterus" EXACT [MONDO:design_pattern]
synonym: "gestational uterine corpus choriocarcinoma" EXACT [NCIT:C27246]
synonym: "uterine corpus gestational choriocarcinoma" EXACT [NCIT:C27246]
xref: DOID:8187 {source="MONDO:equivalentTo"}
xref: DOID:8188 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MEDGEN:234466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27246 {source="MONDO:equivalentTo", source="DOID:8188"}
xref: ONCOTREE:UCCA {source="MONDO:equivalentTo"}
xref: UMLS:C1336904 {source="MONDO:equivalentTo", source="MEDGEN:234466", source="MONDO:MEDGEN"}
is_a: MONDO:0005207 {source="DOID:8188", source="MONDO:Redundant", source="NCIT:C27246/inferred"} ! choriocarcinoma
is_a: MONDO:0006003 {source="DOID:8188", source="MONDO:Entailed"} ! uterine corpus cancer
is_a: MONDO:0020550 {source="DOID:8187", source="MONDO:Redundant"} ! gestational choriocarcinoma
is_a: MONDO:0024575 {source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! pregnancy disorder
intersection_of: MONDO:0020550 ! gestational choriocarcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7281" xsd:anyURI

[Term]
id: MONDO:0004492
name: mediastinitis
def: "An inflammatory process affecting the mediastinum." [NCIT:C26827]
comment: There is a question whether the inflammation site is the mediastinum itself or the mediastinal pleura. We are using mediastinum here to be consistent with the definition and classification from NCIT.
xref: DOID:819 {source="MONDO:equivalentTo"}
xref: ICD10CM:J98.5 {source="DOID:819"}
xref: ICD10CM:J98.51 {source="MONDO:equivalentTo"}
xref: ICD9:519.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:819"}
xref: MEDGEN:9921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008480 {source="MONDO:equivalentTo", source="DOID:819"}
xref: NCIT:C26827 {source="MONDO:equivalentTo", source="DOID:819"}
xref: SCTID:47597000 {source="MONDO:equivalentTo", source="DOID:819"}
xref: UMLS:C0025064 {source="MEDGEN:9921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0021166 ! inflammatory disease
intersection_of: disease_has_inflammation_site UBERON:0003728 ! mediastinum
relationship: disease_has_location UBERON:0003728 ! mediastinum
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:819", source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2198" xsd:anyURI

[Term]
id: MONDO:0004493
name: testicular yolk sac tumor, papillary pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli." [NCIT:C39928]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "papillary pattern testicular yolk sac tumor" RELATED [DOID:8193]
synonym: "papillary pattern testicular yolk sac tumour" RELATED OMO:0003005 []
synonym: "testicular yolk sac tumor, papillary pattern" EXACT [NCIT:C39928]
xref: DOID:8193 {source="MONDO:equivalentTo"}
xref: MEDGEN:308262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39928 {source="MONDO:equivalentTo", source="DOID:8193", source="NCIT:C39928"}
xref: UMLS:C1515310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:308262"}
is_a: MONDO:0003402 {source="DOID:8193", source="NCIT:C39928"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004494
name: testicular yolk sac tumor, hepatoid pattern
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections." [NCIT:C39931]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hepatoid pattern testicular yolk sac tumor" RELATED [DOID:8195]
synonym: "hepatoid pattern testicular yolk sac tumour" RELATED OMO:0003005 []
synonym: "testicular yolk sac tumor, hepatoid pattern" EXACT [NCIT:C39931]
xref: DOID:8195 {source="MONDO:equivalentTo"}
xref: MEDGEN:272846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39931 {source="MONDO:equivalentTo", source="NCIT:C39931", source="DOID:8195"}
xref: UMLS:C1515306 {source="MEDGEN:272846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003402 {source="DOID:8195", source="NCIT:C39931"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004495
name: myotonic cataract
def: "A cataract occurring as a sequela of myotonic dystrophy." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:82 {source="MONDO:equivalentTo"}
xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:366.43 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:82"}
xref: MEDGEN:44565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34833 {source="MONDO:equivalentTo", source="DOID:82"}
xref: SCTID:64741003 {source="MONDO:equivalentTo", source="DOID:82"}
xref: UMLS:C0027128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44565"}
is_a: MONDO:0005129 {source="DOID:82", source="MONDO:Redundant", source="NCIT:C34833"} ! cataract
is_a: MONDO:0016107 {source="NCIT:C34833"} ! myotonic dystrophy

[Term]
id: MONDO:0004496
name: myocarditis
def: "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." [https://rarediseases.info.nih.gov/diseases/7137/myocarditis]
subset: gard_rare {source="GARD:7137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1882"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammation of myocardium" EXACT []
synonym: "myocardial inflammation" EXACT [DOID:820]
synonym: "myocardial inflammation (finding)" EXACT [DOID:820]
synonym: "myocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:820 {source="MONDO:equivalentTo"}
xref: EFO:0009609 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7137 {source="MONDO:GARD"}
xref: ICD10CM:I40 {source="MONDO:equivalentTo"}
xref: ICD10CM:I51.4 {source="DOID:820"}
xref: ICD9:429.0 {source="DOID:820", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:44553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009205 {source="DOID:820", source="MONDO:equivalentTo"}
xref: NCIT:C34831 {source="DOID:820", source="MONDO:equivalentTo"}
xref: NORD:1882 {source="MONDO:NORD"}
xref: SCTID:155380004 {source="DOID:820"}
xref: SCTID:195119007 {source="DOID:820"}
xref: SCTID:251060004 {source="DOID:820"}
xref: SCTID:50920009 {source="DOID:820", source="MONDO:equivalentTo"}
xref: UMLS:C0027059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44553"}
is_a: MONDO:0000591 {source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy
is_a: MONDO:0021166 {source="MONDO:Entailed"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002349 ! myocardium
relationship: excluded_subClassOf MONDO:0002824 {source="DOID:820", source="https://orcid.org/0000-0001-5208-3432"} ! extrinsic cardiomyopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7137/myocarditis" xsd:anyURI {source="GARD:0007137"}

[Term]
id: MONDO:0004497
name: tertiary syphilis
def: "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis)." [NCIT:C128414]
synonym: "late syphilis" EXACT [DOID:8200]
synonym: "late tertiary syphilis" EXACT []
synonym: "tertiary syphilis" EXACT []
xref: DOID:8200 {source="MONDO:equivalentTo"}
xref: ICD10CM:A52 {source="DOID:8200"}
xref: ICD10CM:A52.3 {source="DOID:8200"}
xref: ICD10CM:A52.9 {source="DOID:8200"}
xref: ICD9:095.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:095.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:097.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8200"}
xref: MEDGEN:56297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536774 {source="MONDO:equivalentTo", source="DOID:8200"}
xref: NCIT:C128414 {source="MONDO:equivalentTo"}
xref: SCTID:186905004 {source="DOID:8200"}
xref: SCTID:187358009 {source="DOID:8200"}
xref: SCTID:276200006 {source="DOID:8200"}
xref: SCTID:72083004 {source="MONDO:equivalentTo", source="DOID:8200"}
xref: UMLS:C0153188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56297"}
is_a: MONDO:0005976 {source="DOID:8200", source="MESH:C536774", source="NCIT:C128414"} ! syphilis

[Term]
id: MONDO:0004498
name: sacral spinal canal and spinal cord meningioma
def: "A meningioma that arises from the meninges of the sacral region of the spinal cord." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma of sacral spinal canal and spinal cord" EXACT [NCIT:C5299]
synonym: "meningioma of the sacral spinal canal and spinal cord" EXACT [DOID:8203, NCIT:C5299]
synonym: "sacral intraspinal meningioma" EXACT [NCIT:C5299]
xref: DOID:8203 {source="MONDO:equivalentTo"}
xref: MEDGEN:277626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5299 {source="DOID:8203", source="MONDO:equivalentTo"}
xref: UMLS:C1335893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277626"}
is_a: MONDO:0001279 {source="DOID:8203", source="NCIT:C5299"} ! intraspinal meningioma

[Term]
id: MONDO:0004499
name: lung hilum carcinoma
def: "A lung carcinoma arising from the hilum of the lung." [NCIT:C7454]
synonym: "carcinoma of lung hilus" EXACT [MONDO:patterns/carcinoma]
synonym: "hilar lung carcinoma" EXACT [NCIT:C7454]
synonym: "lung hilum cancer" BROAD [NCIT:C7454]
synonym: "lung hilum carcinoma" EXACT [NCIT:C7454]
synonym: "lung hilus carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:8207 {source="MONDO:equivalentTo"}
xref: MEDGEN:235266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7454 {source="DOID:8207", source="MONDO:equivalentTo"}
xref: UMLS:C1334445 {source="MEDGEN:235266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004332 {source="DOID:8207", source="MONDO:Redundant", source="NCIT:C7454"} ! lung hilum cancer
is_a: MONDO:0005138 {source="DOID:8207", source="MONDO:Redundant", source="NCIT:C7454"} ! lung carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0004886 ! lung hilus

[Term]
id: MONDO:0004500
name: lung superior sulcus carcinoma
def: "A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor." [NCIT:P378]
synonym: "superior sulcus carcinoma of lung" RELATED [DOID:8208]
synonym: "superior sulcus carcinoma of the lung" EXACT [DOID:8208, NCIT:C7779]
synonym: "superior sulcus lung carcinoma" EXACT [NCIT:C7779]
xref: DOID:8208 {source="MONDO:equivalentTo"}
xref: MEDGEN:234910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7779 {source="DOID:8208", source="MONDO:equivalentTo"}
xref: UMLS:C1336529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234910"}
is_a: MONDO:0006883 {source="DOID:8208", source="NCIT:C7779"} ! malignant superior sulcus neoplasm

[Term]
id: MONDO:0004501
name: fallopian tube cystadenofibroma
def: "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder." [NCIT:C40114]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cystadenofibroma of fallopian tube" EXACT [MONDO:design_pattern]
synonym: "fallopian tube cystadenofibroma" EXACT [MONDO:patterns/location, NCIT:C40114]
synonym: "fallopian tube serous cystadenofibroma" EXACT [NCIT:C40114]
xref: DOID:8211 {source="MONDO:equivalentTo"}
xref: MEDGEN:273292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40114 {source="MONDO:equivalentTo", source="DOID:8211"}
xref: UMLS:C1517111 {source="MEDGEN:273292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003461 {source="DOID:8211", source="MONDO:Entailed", source="NCIT:C40114"} ! fallopian tube serous adenofibroma
is_a: MONDO:0003464 {source="DOID:8211", source="MONDO:Redundant", source="NCIT:C40114"} ! cystadenofibroma
intersection_of: MONDO:0003464 ! cystadenofibroma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0004502
name: parapharyngeal meningioma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:8216 {source="MONDO:equivalentTo"}
xref: NCIT:C5303 {source="DOID:8216", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
is_a: MONDO:0016642 {source="DOID:8216"} ! meningioma

[Term]
id: MONDO:0004503
name: upper clivus meningioma
def: "A meningioma that affects the upper clivus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma of the upper clivus" EXACT [DOID:8221, NCIT:C5290]
synonym: "meningioma of upper clivus" EXACT [NCIT:C5290]
xref: DOID:8221 {source="MONDO:equivalentTo"}
xref: MEDGEN:234454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5290 {source="MONDO:equivalentTo", source="DOID:8221"}
xref: UMLS:C1336871 {source="MEDGEN:234454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003908 {source="DOID:8221", source="NCIT:C5290"} ! clivus meningioma

[Term]
id: MONDO:0004504
name: penile urethral cancer
def: "A urethra cancer that involves the penis." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "penile urethral malignant neoplasm" EXACT [NCIT:C39868]
synonym: "penis urethra cancer" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urethra cancer of penis" EXACT [MONDO:design_pattern]
xref: DOID:8223 {source="MONDO:equivalentTo"}
xref: MEDGEN:275350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39868 {source="MONDO:equivalentTo", source="DOID:8223"}
xref: UMLS:C1518950 {source="MEDGEN:275350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004197 {source="DOID:8223", source="NCIT:C39868"} ! male urethral cancer
intersection_of: MONDO:0004192 ! urethra cancer
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0004505
name: central breast papilloma
def: "A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge." [NCIT:P378]
synonym: "large duct breast papilloma" EXACT [DOID:8224, NCIT:C36087]
synonym: "solitary intraductal breast papilloma" EXACT [DOID:8224]
xref: DOID:8224 {source="MONDO:equivalentTo"}
xref: MEDGEN:272446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36087 {source="MONDO:equivalentTo", source="DOID:8224"}
xref: UMLS:C1332896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272446"}
is_a: MONDO:0021097 {source="DOID:8224", source="NCIT:C36087"} ! intraductal breast papilloma

[Term]
id: MONDO:0004506
name: microscopic breast papilloma
def: "A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic." [NCIT:P378]
synonym: "microscopic breast papilloma" EXACT [NCIT:C36088]
synonym: "peripheral breast papilloma" EXACT [NCIT:C36088]
xref: DOID:8225 {source="MONDO:equivalentTo"}
xref: MEDGEN:233851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36088 {source="DOID:8225", source="MONDO:equivalentTo"}
xref: UMLS:C1335390 {source="MEDGEN:233851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021097 {source="DOID:8225", source="NCIT:C36088"} ! intraductal breast papilloma

[Term]
id: MONDO:0004507
name: atypical breast papilloma
def: "An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia." [NCIT:C36089]
synonym: "atypical breast papilloma" EXACT [NCIT:C36089]
xref: DOID:8227 {source="MONDO:equivalentTo"}
xref: MEDGEN:233997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36089 {source="DOID:8227", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233997"}
is_a: MONDO:0021097 {source="DOID:8227", source="NCIT:C36089"} ! intraductal breast papilloma

[Term]
id: MONDO:0004508
name: periapical periodontitis
def: "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess." [MESH:D010485]
subset: otar {source="MONDO:OTAR"}
synonym: "apical periodontitis" EXACT [DOID:823]
synonym: "apical periodontitis NOS" RELATED EXCLUDE [DOID:823]
xref: DOID:823 {source="MONDO:equivalentTo"}
xref: EFO:1001391 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K04.5 {source="DOID:823"}
xref: MEDGEN:45396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010485 {source="DOID:823", source="MONDO:equivalentTo"}
xref: SCTID:39273001 {source="DOID:823", source="MONDO:equivalentTo"}
xref: UMLS:C0031030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45396"}
is_a: MONDO:0005076 {source="DOID:823", source="EFO:1001391", source="MESH:D010485"} ! periodontitis

[Term]
id: MONDO:0004509
name: intrahepatic biliary papillomatosis
def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts." [NCIT:P378]
synonym: "intrahepatic bile duct papillary neoplasm" EXACT [NCIT:C7125]
synonym: "intrahepatic bile duct papillomatosis" EXACT [NCIT:C7125]
synonym: "intrahepatic biliary papillomatosis" EXACT [NCIT:C7125]
xref: DOID:8230 {source="MONDO:equivalentTo"}
xref: MEDGEN:233574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7125 {source="MONDO:equivalentTo", source="DOID:8230"}
xref: UMLS:C1334258 {source="MEDGEN:233574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003455 {source="DOID:8230", source="NCIT:C7125"} ! bile duct papillary neoplasm
relationship: has_characteristic PATO:0002132 ! neoplastic, non-invasive

[Term]
id: MONDO:0004510
name: inflammatory liposarcoma
def: "A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates." [NCIT:C6508]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "inflammatory liposarcoma" EXACT [DOID:8233, NCIT:C6508]
xref: DOID:8233 {source="MONDO:equivalentTo"}
xref: MEDGEN:234588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6508 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8233"}
xref: SCTID:28655007 {source="DOID:8233"}
xref: UMLS:C1370890 {source="MEDGEN:234588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005103 {source="NCIT:C6508"} ! well-differentiated liposarcoma
is_a: MONDO:0006097 {source="DOID:8233"} ! atypical lipomatous tumor

[Term]
id: MONDO:0004511
name: lower clivus meningioma
def: "A meningioma that affects the lower clivus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma of Lower clivus" EXACT [NCIT:C5288]
synonym: "meningioma of the lower clivus" EXACT [DOID:8239, NCIT:C5288]
xref: DOID:8239 {source="MONDO:equivalentTo"}
xref: MEDGEN:235264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5288 {source="DOID:8239", source="MONDO:equivalentTo"}
xref: UMLS:C1334434 {source="MEDGEN:235264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003908 {source="DOID:8239", source="NCIT:C5288"} ! clivus meningioma

[Term]
id: MONDO:0004512
name: meningeal melanomatosis
def: "A meningeal melanoma with secondary diffuse meningeal spread. (WHO)" [NCIT:C6891]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "leptomeningeal melanomatosis" RELATED [DOID:8243, NCIT:C6891]
synonym: "melanomatosis of meningeal cluster" EXACT [MONDO:design_pattern]
synonym: "meningeal cluster melanomatosis" EXACT [MONDO:patterns/location]
synonym: "meningeal melanomatosis" EXACT [NCIT:C6891]
synonym: "meningeal melanomatosis (morphologic abnormality)" EXACT [DOID:8243]
xref: DOID:8243 {source="MONDO:equivalentTo"}
xref: ICDO:8728/3 {source="NCIT:C6891"}
xref: MEDGEN:226843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6891 {source="MONDO:equivalentTo", source="DOID:8243"}
xref: SCTID:128731008 {source="DOID:8243"}
xref: UMLS:C1266114 {source="MONDO:equivalentTo", source="MEDGEN:226843", source="MONDO:MEDGEN"}
is_a: MONDO:0003222 {source="DOID:8243", source="MONDO:Entailed", source="NCIT:C6891/inferred"} ! central nervous system melanocytic neoplasm
is_a: MONDO:0004141 {source="MONDO:Redundant", source="NCIT:C6891"} ! melanomatosis
is_a: MONDO:0021322 {source="MONDO:Entailed", source="NCIT:C6891/inferred"} ! malignant tumor of meninges
intersection_of: MONDO:0004141 ! melanomatosis
intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster

[Term]
id: MONDO:0004513
name: adult pleomorphic rhabdomyosarcoma
def: "An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities." [NCIT:C27369]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult pleomorphic rhabdomyosarcoma" EXACT [NCIT:C27369]
synonym: "pleomorphic rhabdomyosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:8251 {source="MONDO:equivalentTo"}
xref: ICDO:8901/3 {source="NCIT:C27369"}
xref: MEDGEN:233966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27369 {source="MONDO:equivalentTo", source="DOID:8251", source="MONDO:exact-label-match"}
xref: UMLS:C1332211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233966"}
is_a: MONDO:0017386 {source="DOID:8251", source="MONDO:Redundant", source="NCIT:C27369"} ! pleomorphic rhabdomyosarcoma
intersection_of: MONDO:0017386 ! pleomorphic rhabdomyosarcoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004514
name: chronic rhinitis
def: "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "rhinitis - chronic" EXACT [DOID:8252]
synonym: "rhinitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:8252 {source="MONDO:equivalentTo"}
xref: ICD10CM:J31.0 {source="DOID:8252"}
xref: ICD9:472.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8252"}
xref: MEDGEN:3086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34479 {source="MONDO:equivalentTo", source="DOID:8252"}
xref: SCTID:155522005 {source="DOID:8252"}
xref: SCTID:195764003 {source="DOID:8252"}
xref: SCTID:195774000 {source="DOID:8252"}
xref: SCTID:270532004 {source="DOID:8252"}
xref: SCTID:86094006 {source="MONDO:equivalentTo", source="DOID:8252"}
xref: UMLS:C0008711 {source="MEDGEN:3086", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003014 {source="DOID:8252", source="MONDO:Redundant", source="NCIT:C34479"} ! rhinitis
intersection_of: MONDO:0003014 ! rhinitis
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: disease_has_feature HP:0002257 ! Chronic rhinitis

[Term]
id: MONDO:0004515
name: obsolete olfactory neural tumor
is_obsolete: true
replaced_by: MONDO:0002722

[Term]
id: MONDO:0004516
name: bulbomembranous urethral cancer
synonym: "bulbomembranous urethral malignant neoplasm" EXACT [NCIT:C39869]
xref: DOID:8259 {source="MONDO:equivalentTo"}
xref: MEDGEN:267917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39869 {source="DOID:8259", source="MONDO:equivalentTo"}
xref: UMLS:C1511339 {source="MEDGEN:267917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004197 {source="DOID:8259", source="NCIT:C39869"} ! male urethral cancer

[Term]
id: MONDO:0004517
name: ureter tuberculosis
def: "A tuberculosis that involves the ureter." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tuberculosis of ureter" EXACT [DOID:827]
synonym: "ureter tuberculosis" EXACT [MONDO:patterns/location]
xref: DOID:827 {source="MONDO:equivalentTo"}
xref: ICD9:016.2 {source="DOID:827"}
xref: ICD9:016.20 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:81359005 {source="MONDO:equivalentTo", source="DOID:827"}
xref: UMLS:C0152800 {source="MONDO:equivalentTo", source="MEDGEN:509076", source="MONDO:MEDGEN"}
is_a: MONDO:0006002 {source="DOID:827", source="MONDO:Redundant"} ! urogenital tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0004518
name: anterior urethra cancer
def: "A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body." [NCIT:P378]
synonym: "anterior urethra malignant neoplasm" EXACT [NCIT:C7641]
synonym: "anterior urethra malignant tumor" EXACT [NCIT:C7641]
synonym: "anterior urethra malignant tumour" EXACT OMO:0003005 []
synonym: "anterior urethral cancer" EXACT [NCIT:C7641]
synonym: "anterior urethral malignant neoplasm" EXACT [NCIT:C7641]
synonym: "anterior urethral malignant tumor" EXACT [DOID:8272, NCIT:C7641]
synonym: "anterior urethral malignant tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of anterior urethra" EXACT [NCIT:C7641]
synonym: "malignant neoplasm of the anterior urethra" EXACT [NCIT:C7641]
synonym: "malignant tumor of anterior urethra" EXACT [NCIT:C7641]
synonym: "malignant tumor of the anterior urethra" EXACT [NCIT:C7641]
synonym: "malignant tumour of anterior urethra" EXACT OMO:0003005 []
synonym: "malignant tumour of the anterior urethra" EXACT OMO:0003005 []
xref: DOID:8272 {source="MONDO:equivalentTo"}
xref: MEDGEN:76043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7641 {source="MONDO:equivalentTo", source="DOID:8272"}
xref: UMLS:C0279930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76043"}
is_a: MONDO:0004192 {source="DOID:8272/inferred", source="MONDO:Redundant", source="NCIT:C7641"} ! urethra cancer
relationship: excluded_subClassOf MONDO:0004203 {source="DOID:8272", source="https://orcid.org/0000-0001-5208-3432"} ! female urethral cancer

[Term]
id: MONDO:0004519
name: synovial angioma
def: "A rare hemangioma arising from synovium lining surfaces." [NCIT:C6525]
synonym: "angioma of synovium" EXACT [NCIT:C6525]
synonym: "angioma of the synovium" EXACT [NCIT:C6525]
synonym: "hemangioma of layer of synovial tissue" EXACT [MONDO:design_pattern]
synonym: "hemangioma of synovium" EXACT [DOID:8274, NCIT:C6525]
synonym: "hemangioma of the synovium" EXACT [NCIT:C6525]
synonym: "layer of synovial tissue hemangioma" EXACT [MONDO:patterns/location]
synonym: "synovial hemangioma" EXACT [NCIT:C6525]
xref: DOID:8274 {source="MONDO:equivalentTo"}
xref: MEDGEN:234375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6525 {source="MONDO:equivalentTo", source="DOID:8274"}
xref: UMLS:C1336546 {source="MEDGEN:234375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:8274/inferred", source="MONDO:Redundant", source="NCIT:C6525"} ! hemangioma
is_a: MONDO:0024715 {source="NCIT:C6525"} ! benign synovial neoplasm
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0007616 ! layer of synovial tissue
relationship: excluded_subClassOf MONDO:0003096 {source="DOID:8274", source="https://orcid.org/0000-0001-5208-3432"} ! deep hemangioma

[Term]
id: MONDO:0004520
name: intratubular embryonal carcinoma
def: "Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)" [NCIT:C7325]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intratubular embryonal carcinoma" EXACT [NCIT:C7325]
synonym: "stage 0 testicular embryonal carcinoma" EXACT [NCIT:C7325]
synonym: "stage 0 testicular embryonal carcinoma aJCC v6" EXACT [NCIT:C7325]
synonym: "stage 0 testicular embryonal carcinoma aJCC v6 and v7" EXACT [NCIT:C7325]
synonym: "stage 0 testicular embryonal carcinoma aJCC v7" EXACT [NCIT:C7325]
xref: DOID:8275 {source="MONDO:equivalentTo"}
xref: MEDGEN:1832671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7325 {source="MONDO:equivalentTo", source="DOID:8275"}
xref: UMLS:C5784893 {source="MEDGEN:1832671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006446 {source="DOID:8275", source="NCIT:C7325"} ! testicular embryonal carcinoma

[Term]
id: MONDO:0004521
name: adult epithelioid sarcoma
def: "An epithelioid sarcoma occurring in adults." [NCIT:C7944]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult epithelioid sarcoma" EXACT [NCIT:C7944]
synonym: "epithelioid sarcoma" BROAD [NCIT:C7944]
synonym: "epithelioid sarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:8282 {source="MONDO:equivalentTo"}
xref: MEDGEN:124631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7944 {source="DOID:8282", source="MONDO:equivalentTo"}
xref: UMLS:C0279545 {source="MONDO:equivalentTo", source="MEDGEN:124631", source="MONDO:MEDGEN"}
is_a: MONDO:0017387 {source="DOID:8282", source="MONDO:Redundant", source="NCIT:C7944"} ! epithelioid sarcoma
intersection_of: MONDO:0017387 ! epithelioid sarcoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004522
name: peritonitis
def: "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment." [NCIT:C26849]
subset: otar {source="MONDO:OTAR"}
synonym: "acute generalised peritonitis" EXACT OMO:0003005 []
synonym: "acute generalized peritonitis" EXACT [DOID:8283]
synonym: "inflammation of peritoneum" EXACT []
synonym: "peritoneum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "primary bacterial peritonitis" EXACT [DOID:8283]
synonym: "retractile mesenteritis" EXACT [DOID:8283]
synonym: "sclerosing mesenteritis" RELATED EXCLUDE [DOID:8283]
xref: DOID:8283 {source="MONDO:equivalentTo"}
xref: EFO:0008588 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:567.8 {source="DOID:8283"}
xref: ICD9:567.82 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:567.89 {source="DOID:8283"}
xref: MEDGEN:14697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010538 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C26849 {source="MONDO:equivalentTo"}
xref: SCTID:197183001 {source="DOID:8283"}
xref: SCTID:197187000 {source="DOID:8283"}
xref: SCTID:86422009 {source="MONDO:equivalentTo"}
xref: UMLS:C0031154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14697"}
is_a: MONDO:0004335 {source="DOID:8283", source="EFO:0008588"} ! digestive system disorder
is_a: MONDO:0021166 {source="MONDO:Entailed"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0004523
name: clear cell squamous cell skin carcinoma
def: "A squamous cell carcinoma of the skin with a prominent clear cell component." [NCIT:C4459]
synonym: "clear cell squamous cell carcinoma of skin" EXACT [NCIT:C4459]
synonym: "clear cell squamous cell carcinoma of the skin" EXACT [NCIT:C4459]
synonym: "clear cell squamous cell skin carcinoma" EXACT [DOID:8288, NCIT:C4459]
xref: DOID:8288 {source="MONDO:equivalentTo"}
xref: MEDGEN:91064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4459 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8288"}
xref: SCTID:254652000 {source="MONDO:equivalentTo", source="DOID:8288"}
xref: UMLS:C0345978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91064"}
is_a: MONDO:0002529 {source="DOID:8288", source="NCIT:C4459"} ! skin squamous cell carcinoma
is_a: MONDO:0005056 {source="NCIT:C4459"} ! keratinizing squamous cell carcinoma

[Term]
id: MONDO:0004524
name: thyroid gland atypical follicular adenoma
def: "A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "atypical follicular adenoma" EXACT [DOID:8292, NCIT:C27729]
synonym: "atypical follicular adenoma (morphologic abnormality)" EXACT [DOID:8292]
synonym: "thyroid gland atypical follicular adenoma" EXACT [NCIT:C27729]
xref: DOID:8292 {source="MONDO:equivalentTo"}
xref: ICDO:8330/1 {source="NCIT:C27729"}
xref: MEDGEN:224756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27729 {source="MONDO:equivalentTo", source="DOID:8292"}
xref: SCTID:128892009 {source="DOID:8292"}
xref: UMLS:C1266046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224756"}
is_a: MONDO:0005032 {source="DOID:8292", source="NCIT:C27729"} ! follicular thyroid adenoma

[Term]
id: MONDO:0004525
name: scabies
def: "A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows." [NCIT:P378]
synonym: "infestation by Sarcoptes scabiei" EXACT [DOID:8295]
synonym: "infestation by Sarcoptes scabiei var hominis" EXACT [DOID:8295]
synonym: "Sarcoptes scabiei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Sarcoptes scabiei disease or disorder" EXACT []
synonym: "Sarcoptes scabiei infectious disease" EXACT []
synonym: "sarcoptic itch" EXACT [DOID:8295]
xref: DOID:8295 {source="MONDO:equivalentTo"}
xref: ICD10CM:B86 {source="MONDO:equivalentTo", source="DOID:8295"}
xref: ICD9:133.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8295"}
xref: MEDGEN:48566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012532 {source="MONDO:equivalentTo", source="DOID:8295"}
xref: NCIT:C34998 {source="MONDO:equivalentTo", source="DOID:8295"}
xref: SCTID:128869009 {source="MONDO:equivalentTo", source="DOID:8295"}
xref: SCTID:154422001 {source="DOID:8295"}
xref: SCTID:187215008 {source="DOID:8295"}
xref: SCTID:266224002 {source="DOID:8295"}
xref: SCTID:67172004 {source="DOID:8295"}
xref: UMLS:C0036262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48566"}
is_a: MONDO:0004389 {source="DOID:8295", source="MESH:D012532"} ! mite infestation
is_a: MONDO:0021201 {source="NCIT:C34998"} ! skin infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:52283 ! Sarcoptes scabiei

[Term]
id: MONDO:0004526
name: mixed endometrial stromal and smooth muscle tumor
def: "A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma." [NCIT:C40179]
synonym: "mixed endometrial stromal and smooth muscle neoplasm" EXACT [NCIT:C40178]
synonym: "Stromomyoma" EXACT [DOID:8302, NCIT:C40178]
synonym: "uterine corpus soft tissue neoplasm" EXACT [NCIT:C40179]
xref: DOID:8302 {source="MONDO:equivalentTo"}
xref: MEDGEN:269077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40178 {source="DOID:8302", source="MONDO:equivalentTo"}
xref: UMLS:C1513364 {source="MEDGEN:269077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C40178/inferred", source="NCIT:C40179"} ! soft tissue neoplasm
is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C40178/inferred", source="NCIT:C40179"} ! corpus uteri neoplasm
intersection_of: MONDO:0006424 ! soft tissue neoplasm
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: excluded_subClassOf MONDO:0006003 {source="DOID:8302", source="https://orcid.org/0000-0001-5208-3432"} ! uterine corpus cancer

[Term]
id: MONDO:0004527
name: obsolete congenital granular cell tumor
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7284" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015528

[Term]
id: MONDO:0004528
name: lymph node palisaded myofibroblastoma
def: "A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "palisaded lymph node myofibroblastoma" EXACT [NCIT:C6584]
synonym: "palisaded myofibroblastoma of lymph node" EXACT [NCIT:C6584]
synonym: "palisaded myofibroblastoma of the lymph node" EXACT [DOID:8304, NCIT:C6584]
xref: DOID:8304 {source="MONDO:equivalentTo"}
xref: MEDGEN:277487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6584 {source="DOID:8304", source="MONDO:equivalentTo"}
xref: UMLS:C1335295 {source="MONDO:equivalentTo", source="MEDGEN:277487", source="MONDO:MEDGEN"}
intersection_of: MONDO:0040675 {source="NCIT:C6584"} ! myofibroblastoma
intersection_of: disease_has_location UBERON:0001542 {source="NCIT:C6584"} ! inguinal lymph node
relationship: excluded_subClassOf MONDO:0001082 {source="DOID:8304", source="https://orcid.org/0000-0001-5208-3432"} ! lymph node cancer

[Term]
id: MONDO:0004529
name: non-ossifying fibromyxoid tumor
def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present." [NCIT:C6583]
synonym: "nonossifying fibromyxoid neoplasm" EXACT [NCIT:C6583]
synonym: "nonossifying fibromyxoid tumor" EXACT [NCIT:C6583]
synonym: "nonossifying fibromyxoid tumour" EXACT OMO:0003005 []
synonym: "nonossifying fibromyxoma" EXACT [DOID:8305, NCIT:C6583]
xref: DOID:8305 {source="MONDO:equivalentTo"}
xref: MEDGEN:235395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6583 {source="DOID:8305", source="MONDO:equivalentTo"}
xref: UMLS:C1335063 {source="MEDGEN:235395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0037745 {source="NCIT:C6583"} ! fibromyxoid tumor
disjoint_from: MONDO:0006330 ! ossifying fibromyxoid tumor
relationship: excluded_subClassOf MONDO:0002616 {source="DOID:8305", source="https://orcid.org/0000-0001-5208-3432"} ! mesenchymal cell neoplasm

[Term]
id: MONDO:0004530
name: early invasive cervical adenocarcinoma
def: "A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical microinvasive adenocarcinoma" EXACT [NCIT:C36096]
xref: DOID:8307 {source="MONDO:equivalentTo"}
xref: MEDGEN:232144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36096 {source="DOID:8307", source="MONDO:equivalentTo"}
xref: UMLS:C1333369 {source="MEDGEN:232144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005153 {source="DOID:8307", source="NCIT:C36096"} ! cervical adenocarcinoma

[Term]
id: MONDO:0004531
name: sclerosing adenosis of breast
def: "Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present." [NCIT:P378]
synonym: "breast sclerosing adenosis" EXACT [NCIT:C5205]
synonym: "sclerosing adenosis" EXACT [NCIT:C5205]
synonym: "sclerosing adenosis of the breast" EXACT [NCIT:C5205]
synonym: "sclerosing breast adenosis" EXACT [DOID:8310, NCIT:C5205]
xref: DOID:8310 {source="MONDO:equivalentTo"}
xref: MEDGEN:235582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5205 {source="MONDO:equivalentTo", source="DOID:8310"}
xref: SCTID:105261000119101 {source="MONDO:equivalentTo", source="DOID:8310"}
xref: UMLS:C1335931 {source="MEDGEN:235582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002585 {source="DOID:8310", source="NCIT:C5205"} ! breast fibrocystic change, proliferative type
is_a: MONDO:0003725 {source="DOID:8310", source="NCIT:C5205"} ! breast adenosis

[Term]
id: MONDO:0004532
name: auditory system cancer
def: "A malignant neoplasm involving the auditory system" [https://orcid.org/0000-0002-6601-2165]
synonym: "auditory system cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of auditory system" EXACT [MONDO:patterns/cancer]
synonym: "malignant auditory system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of auditory system" EXACT [MONDO:patterns/cancer]
xref: DOID:833 {source="MONDO:equivalentTo"}
xref: MESH:D004428 {source="DOID:833", source="MONDO:relatedTo"}
xref: NCIT:C3000 {source="DOID:833", source="MONDO:relatedTo"}
xref: SCTID:363228008 {source="DOID:833"}
is_a: MONDO:0000649 {source="DOID:833", source="MONDO:Entailed", source="MONDO:Redundant"} ! sensory system cancer
is_a: MONDO:0002409 {source="DOID:833", source="MONDO:Entailed", source="MONDO:Redundant"} ! auditory system disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0016490 ! auditory system

[Term]
id: MONDO:0004533
name: perineural angioma
def: "A hemangioma arising from perineural tissues." [NCIT:P378]
synonym: "perineural hemangioma" EXACT [NCIT:C6526]
xref: DOID:8331 {source="MONDO:equivalentTo"}
xref: MEDGEN:235470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6526 {source="MONDO:equivalentTo", source="DOID:8331"}
xref: UMLS:C1335382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235470"}
is_a: MONDO:0003096 {source="DOID:8331", source="NCIT:C6526"} ! deep hemangioma

[Term]
id: MONDO:0004534
name: microglandular adenosis of breast
def: "A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia." [NCIT:P378]
synonym: "breast microglandular adenosis" EXACT [NCIT:C5199]
synonym: "microglandular adenosis of the breast" EXACT [NCIT:C5199]
xref: DOID:8335 {source="MONDO:equivalentTo"}
xref: MEDGEN:233705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5199 {source="DOID:8335", source="MONDO:equivalentTo"}
xref: UMLS:C1334753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233705"}
is_a: MONDO:0003725 {source="DOID:8335", source="MONDO:Redundant", source="NCIT:C5199"} ! breast adenosis
intersection_of: MONDO:0003725 ! breast adenosis
intersection_of: disease_has_location UBERON:0000310 ! breast
intersection_of: realized_in_response_to_stimulus CL:0000066 ! epithelial cell

[Term]
id: MONDO:0004535
name: childhood choriocarcinoma of the ovary
def: "A non-gestational choriocarcinoma that arises from the ovary and occurs in children." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "childhood choriocarcinoma of ovary" EXACT [NCIT:C6549]
synonym: "childhood ovarian choriocarcinoma" EXACT [NCIT:C6549]
synonym: "choriocarcinoma of ovary of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric choriocarcinoma of ovary" EXACT OMO:0003005 []
synonym: "paediatric choriocarcinoma of the ovary" EXACT OMO:0003005 []
synonym: "paediatric ovarian choriocarcinoma" EXACT OMO:0003005 []
synonym: "pediatric choriocarcinoma of ovary" EXACT [DOID:8336, MONDO:patterns/childhood, NCIT:C6549]
synonym: "pediatric choriocarcinoma of the ovary" EXACT [NCIT:C6549]
synonym: "pediatric ovarian choriocarcinoma" EXACT [NCIT:C6549]
xref: DOID:8336 {source="MONDO:equivalentTo"}
xref: MEDGEN:234135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6549 {source="DOID:8336", source="MONDO:equivalentTo"}
xref: UMLS:C1332987 {source="MEDGEN:234135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003507 {source="DOID:8336", source="MONDO:Redundant", source="NCIT:C6549/inferred"} ! choriocarcinoma of ovary
is_a: MONDO:0004322 {source="NCIT:C6549"} ! non-gestational ovarian choriocarcinoma
intersection_of: MONDO:0003507 ! choriocarcinoma of ovary
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004536
name: obsolete villoglandular variant cervical mucinous adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0006141

[Term]
id: MONDO:0004537
name: intestinal variant cervical mucinous adenocarcinoma
def: "A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical mucinous adenocarcinoma, intestinal variant" EXACT [NCIT:C40203]
synonym: "cervical mucinous adenocarcinoma, intestinal-type" EXACT [NCIT:C40203]
synonym: "intestinal type mucinous carcinoma" RELATED [ONCOTREE:ICEMU]
xref: DOID:8339 {source="MONDO:equivalentTo"}
xref: MEDGEN:273124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40203 {source="DOID:8339", source="MONDO:equivalentTo"}
xref: ONCOTREE:ICEMU {source="MONDO:equivalentTo"}
xref: UMLS:C1516422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273124"}
is_a: MONDO:0002742 {source="DOID:8339", source="NCIT:C40203"} ! cervical mucinous adenocarcinoma
is_a: MONDO:0006254 {source="NCIT:C40203"} ! intestinal type adenocarcinoma

[Term]
id: MONDO:0004538
name: endocervical type cervical mucinous adenocarcinoma
def: "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical adenocarcinoma, endocervical type" EXACT [NCIT:C40202]
synonym: "cervical mucinous adenocarcinoma, endocervical type" EXACT [NCIT:C40202]
xref: DOID:8340 {source="MONDO:equivalentTo"}
xref: NCIT:C40202 {source="MONDO:equivalentObsolete", source="DOID:8340"}
is_a: MONDO:0002742 {source="DOID:8340", source="NCIT:C40202"} ! cervical mucinous adenocarcinoma

[Term]
id: MONDO:0004539
name: aortic malignant tumor
def: "A cancer that involves the aorta." [MONDO:patterns/location]
synonym: "aorta cancer" EXACT []
synonym: "aortic malignant neoplasm" EXACT [DOID:8352]
synonym: "cancer of aorta" EXACT [MONDO:patterns/cancer]
synonym: "malignant aorta neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant aortic neoplasm" EXACT [NCIT:C5375]
synonym: "malignant neoplasm of aorta" EXACT [MONDO:patterns/cancer, NCIT:C5375]
synonym: "malignant neoplasm of the aorta" EXACT [NCIT:C5375]
synonym: "malignant tumor of aorta" EXACT [NCIT:C5375]
synonym: "malignant tumor of the aorta" EXACT [NCIT:C5375]
synonym: "malignant tumour of aorta" EXACT OMO:0003005 []
synonym: "malignant tumour of the aorta" EXACT OMO:0003005 []
xref: DOID:8352 {source="MONDO:equivalentTo"}
xref: MEDGEN:235290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5375 {source="MONDO:equivalentTo", source="DOID:8352"}
xref: UMLS:C1334560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235290"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000947 ! aorta
relationship: excluded_subClassOf MONDO:0002095 {source="DOID:8352", source="https://orcid.org/0000-0001-5208-3432"} ! vascular cancer

[Term]
id: MONDO:0004540
name: epithelioid malignant peripheral nerve sheath tumor
def: "A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." [NCIT:C6561]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epithelioid malignant peripheral nerve sheath tumor" EXACT [NCIT:C6561]
synonym: "epithelioid MPNST" EXACT [DOID:8353, NCIT:C6561]
synonym: "malignant epithelioid neoplasm of peripheral nerve sheath" EXACT [NCIT:C6561]
synonym: "malignant epithelioid neoplasm of the peripheral nerve sheath" EXACT [DOID:8353, NCIT:C6561]
synonym: "malignant epithelioid peripheral nerve sheath neoplasm" EXACT [NCIT:C6561]
synonym: "malignant epithelioid peripheral nerve sheath tumor" EXACT [NCIT:C6561]
synonym: "malignant epithelioid peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "malignant epithelioid tumor of peripheral nerve sheath" EXACT [NCIT:C6561]
synonym: "malignant epithelioid tumor of the peripheral nerve sheath" EXACT [NCIT:C6561]
synonym: "malignant epithelioid tumour of peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "malignant epithelioid tumour of the peripheral nerve sheath" EXACT OMO:0003005 []
xref: DOID:8353 {source="MONDO:equivalentTo"}
xref: MEDGEN:272104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6561 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8353"}
xref: SCTID:19897006 {source="DOID:8353"}
xref: SCTID:253093000 {source="DOID:8353"}
xref: SCTID:404038007 {source="MONDO:equivalentTo", source="DOID:8353"}
xref: UMLS:C1321427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272104"}
is_a: MONDO:0017827 {source="DOID:8353", source="NCIT:C6561"} ! malignant peripheral nerve sheath tumor

[Term]
id: MONDO:0004541
name: pseudoglandular variant testicular seminoma
def: "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular seminoma, pseudoglandular variant" EXACT [NCIT:C40958]
xref: DOID:8358 {source="MONDO:equivalentTo"}
xref: MEDGEN:273633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40958 {source="DOID:8358", source="MONDO:equivalentTo"}
xref: UMLS:C1515293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273633"}
is_a: MONDO:0003669 {source="DOID:8358", source="NCIT:C40958"} ! testicular seminoma

[Term]
id: MONDO:0004542
name: cervical adenosquamous carcinoma, glassy cell variant
def: "A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates." [NCIT:C40212]
subset: gard_rare {source="GARD:20500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213833"}
subset: orphanet_rare {source="Orphanet:213833"}
subset: rare
synonym: "cervical adenosquamous carcinoma, glassy cell variant" EXACT [NCIT:C40212]
synonym: "GCC of the cervix" RELATED [GARD:0008437]
synonym: "glassy cell adenocarcinoma of the uterine cervix" RELATED [GARD:0008437, MESH:C536823]
synonym: "glassy cell carcinoma of the cervix" RELATED [GARD:0008437]
synonym: "glassy cell carcinoma of the cervix uteri" RELATED [Orphanet:213833]
synonym: "glassy cell variant cervical adenosquamous carcinoma" RELATED [DOID:8361]
xref: DOID:8361 {source="MONDO:equivalentTo"}
xref: GARD:20500 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213833", source="Orphanet:213833/btnt"}
xref: ICD10CM:C53.1 {source="Orphanet:213833", source="Orphanet:213833/btnt"}
xref: ICD10CM:C53.8 {source="Orphanet:213833", source="Orphanet:213833/btnt"}
xref: MEDGEN:308943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536823 {source="MONDO:equivalentTo"}
xref: NCIT:C40212 {source="MONDO:equivalentTo", source="DOID:8361"}
xref: ONCOTREE:CEGCC {source="MONDO:equivalentTo"}
xref: Orphanet:213833 {source="MONDO:equivalentTo"}
xref: UMLS:C1516407 {source="MEDGEN:308943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002974 {source="MONDO:Redundant", source="Orphanet:213833"} ! cervical cancer
is_a: MONDO:0006134 {source="DOID:8361", source="NCIT:C40212"} ! cervical adenosquamous carcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8437/glassy-cell-carcinoma-of-the-cervix" xsd:anyURI {source="GARD:0008437"}

[Term]
id: MONDO:0004543
name: enteric pattern testicular yolk sac tumor
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular yolk Sac tumor, enteric pattern" EXACT [NCIT:C39932]
xref: DOID:8362 {source="MONDO:equivalentTo"}
xref: MEDGEN:308261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39932 {source="MONDO:equivalentTo", source="DOID:8362"}
xref: UMLS:C1515304 {source="MEDGEN:308261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003402 {source="DOID:8362", source="NCIT:C39932"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004544
name: chordoid meningioma
def: "A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." [NCIT:C6908]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CHOM" RELATED ABBREVIATION [ONCOTREE:CHOM]
synonym: "chordoid meningioma" EXACT [DOID:8368, NCIT:C6908]
synonym: "meningioma, chordoid" EXACT [DOID:8368]
synonym: "meningioma, chordoid (morphologic abnormality)" EXACT [DOID:8368]
xref: DOID:8368 {source="MONDO:equivalentTo"}
xref: MEDGEN:235089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6908 {source="DOID:8368", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:CHOM {source="MONDO:equivalentTo"}
xref: SCTID:399709001 {source="DOID:8368"}
xref: SCTID:57606003 {source="DOID:8368"}
xref: UMLS:C1370510 {source="MEDGEN:235089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0045056 {source="NCIT:C6908"} ! grade II meningioma
relationship: excluded_subClassOf MONDO:0002918 {source="DOID:8368", source="https://orcid.org/0000-0001-5208-3432"} ! clear cell meningioma

[Term]
id: MONDO:0004545
name: adult malignant schwannoma
def: "A malignant peripheral nerve sheath tumor occurring during adulthood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C7814]
synonym: "adult malignant neoplasm of the peripheral nerve sheath" EXACT [NCIT:C7814]
synonym: "adult malignant neurilemmoma" EXACT [NCIT:C7814]
synonym: "adult malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C7814]
synonym: "adult malignant peripheral nerve sheath tumor" EXACT [NCIT:C7814]
synonym: "adult malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "adult malignant schwannoma" EXACT [NCIT:C7814]
synonym: "adult malignant tumor of peripheral nerve sheath" EXACT [NCIT:C7814]
synonym: "adult malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C7814]
synonym: "adult malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "adult malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "adult MPNST" EXACT [DOID:8369, NCIT:C7814]
synonym: "malignant peripheral nerve sheath tumor" BROAD [NCIT:C7814]
synonym: "malignant peripheral nerve sheath tumour" BROAD OMO:0003005 []
xref: DOID:8369 {source="MONDO:equivalentTo"}
xref: MEDGEN:75845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7814 {source="DOID:8369", source="MONDO:equivalentTo"}
xref: UMLS:C0278622 {source="MEDGEN:75845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017827 {source="DOID:8369", source="MONDO:0004545/inferred", source="NCIT:C7814"} ! malignant peripheral nerve sheath tumor
intersection_of: MONDO:0017827 ! malignant peripheral nerve sheath tumor
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004546
name: lumbar plexus neoplasm
def: "A neoplasm (disease) that involves the lumbar nerve plexus." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lumbar nerve plexus neoplasm" EXACT []
synonym: "lumbar nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lumbar nerve plexus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "lumbar nerve plexus tumour" EXACT OMO:0003005 []
synonym: "lumbar plexus neoplasms" EXACT [NCIT:C5824]
synonym: "lumbar plexus tumor" EXACT [NCIT:C5824]
synonym: "lumbar plexus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of lumbar nerve plexus" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of lumbar plexus" EXACT [NCIT:C5824]
synonym: "neoplasm of the lumbar plexus" EXACT [NCIT:C5824]
synonym: "tumor of lumbar nerve plexus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of lumbar plexus" EXACT [DOID:8389, NCIT:C5824]
synonym: "tumor of the lumbar plexus" EXACT [NCIT:C5824]
synonym: "tumour of lumbar nerve plexus" EXACT OMO:0003005 []
synonym: "tumour of lumbar plexus" EXACT OMO:0003005 []
synonym: "tumour of the lumbar plexus" EXACT OMO:0003005 []
xref: DOID:8389 {source="MONDO:equivalentTo"}
xref: MEDGEN:272802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5824 {source="MONDO:equivalentTo", source="DOID:8389"}
xref: UMLS:C1334437 {source="MEDGEN:272802", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003100 {source="DOID:8389", source="MONDO:Redundant", source="NCIT:C5824"} ! nerve plexus neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0034987 ! lumbar nerve plexus

[Term]
id: MONDO:0004547
name: reticular pattern testicular yolk sac tumor
def: "A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "testicular yolk Sac tumor, microcystic pattern" EXACT [NCIT:C39923]
synonym: "testicular yolk Sac tumor, reticular pattern" EXACT [NCIT:C39923]
xref: DOID:8392 {source="MONDO:equivalentTo"}
xref: MEDGEN:271773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39923 {source="DOID:8392", source="MONDO:equivalentTo"}
xref: UMLS:C1515308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271773"}
is_a: MONDO:0003402 {source="DOID:8392", source="NCIT:C39923"} ! testicular yolk sac tumor

[Term]
id: MONDO:0004548
name: adult type testicular granulosa cell tumor
def: "A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adult testicular granulosa cell tumor" EXACT []
synonym: "adult testicular granulosa cell tumour" EXACT OMO:0003005 []
synonym: "adult type testicular granulosa cell tumor" EXACT [NCIT:C39946]
xref: DOID:8394 {source="MONDO:equivalentTo"}
xref: MEDGEN:272840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39946 {source="MONDO:equivalentTo", source="DOID:8394"}
xref: UMLS:C1515284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272840"}
is_a: MONDO:0003395 {source="DOID:8394", source="NCIT:C39946"} ! testicular granulosa cell tumor
intersection_of: MONDO:0003395 ! testicular granulosa cell tumor
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0004549
name: cork-handlers' disease
def: "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia." [DOID:840, http://chestjournal.chestpubs.org/content/124/3/1145.full.pdf, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cork worker's lung" EXACT [PMID:4200382]
synonym: "cork workers lung" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "cork-handlers' disease or lung" EXACT [DOID:840]
synonym: "cork-handlers' lung" EXACT [DOID:840]
synonym: "Suberosis" EXACT [DOID:840, ICD9CM:495.3]
xref: DOID:840 {source="MONDO:equivalentTo"}
xref: ICD10CM:J67.3 {source="DOID:840"}
xref: ICD9:495.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:840"}
xref: MEDGEN:508891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:13394002 {source="MONDO:equivalentTo", source="DOID:840"}
xref: UMLS:C0152108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508891"}
is_a: MONDO:0017853 {source="DOID:840"} ! hypersensitivity pneumonitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0017853 ! hypersensitivity pneumonitis
intersection_of: disease_has_infectious_agent NCBITaxon:69773 ! Penicillium glabrum
relationship: disease_has_feature HP:0002094 ! Dyspnea

[Term]
id: MONDO:0004550
name: malignant cornea melanoma
def: "A melanoma within the cornea of the eye." [NCIT:P378]
synonym: "cornea melanoma" EXACT [NCIT:C4553]
synonym: "cornea melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "corneal melanoma" EXACT [NCIT:C4553]
synonym: "malignant cornea melanoma" EXACT [NCIT:C4553]
synonym: "malignant corneal melanoma" EXACT [DOID:8400, NCIT:C4553]
synonym: "malignant melanoma of cornea" EXACT [NCIT:C4553]
synonym: "malignant melanoma of the cornea" EXACT [NCIT:C4553]
synonym: "melanoma (disease) of cornea" EXACT []
synonym: "melanoma of cornea" EXACT [NCIT:C4553]
synonym: "melanoma of the cornea" EXACT [NCIT:C4553]
xref: DOID:8400 {source="MONDO:equivalentTo"}
xref: MEDGEN:138061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4553 {source="MONDO:equivalentTo", source="DOID:8400"}
xref: SCTID:255009006 {source="DOID:8400"}
xref: UMLS:C0346367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138061"}
is_a: MONDO:0003802 {source="DOID:8400", source="MONDO:Redundant", source="NCIT:C4553"} ! cornea cancer
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C4553"} ! ocular melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0004551
name: Meckel diverticulitis
def: "Inflammation of a congenital diverticulum of the lower intestine." [NCIT:P378]
synonym: "inflammation of Meckel's diverticulum" EXACT []
synonym: "Meckel diverticulitis" EXACT [DOID:8408, NCIT:C27300]
synonym: "Meckel's diverticulitis" RELATED [NCIT:C27300]
synonym: "Meckel's diverticulum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:8408 {source="MONDO:equivalentTo"}
xref: MEDGEN:75634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27300 {source="DOID:8408", source="MONDO:equivalentTo"}
xref: SCTID:48241004 {source="DOID:8408", source="MONDO:equivalentTo"}
xref: UMLS:C0267497 {source="MEDGEN:75634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001229 {source="MONDO:Redundant"} ! small intestine diverticulitis
is_a: MONDO:0004235 {source="DOID:8408", source="MONDO:Redundant", source="NCIT:C27300"} ! diverticulitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0003705 ! Meckel's diverticulum

[Term]
id: MONDO:0004552
name: microinvasive cervical squamous cell carcinoma
def: "A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "early invasive cervical squamous cell carcinoma" EXACT [NCIT:C36094]
xref: DOID:8409 {source="MONDO:equivalentTo"}
xref: MEDGEN:272565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36094 {source="MONDO:equivalentTo", source="DOID:8409"}
xref: UMLS:C1333370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272565"}
is_a: MONDO:0006143 {source="DOID:8409", source="NCIT:C36094"} ! cervical squamous cell carcinoma

[Term]
id: MONDO:0004553
name: obsolete extrinsic allergic alveolitis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4323" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017853

[Term]
id: MONDO:0004554
name: childhood kidney angiomyolipoma
def: "An angiomyolipoma occurring in childhood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood renal angiomyolipoma" EXACT [NCIT:C6565]
synonym: "kidney angiomyolipoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric kidney angiomyolipoma" EXACT OMO:0003005 []
synonym: "paediatric renal angiomyolipoma" EXACT OMO:0003005 []
synonym: "pediatric kidney angiomyolipoma" EXACT [MONDO:patterns/childhood, NCIT:C6565]
synonym: "pediatric renal angiomyolipoma" EXACT [DOID:8410, NCIT:C6565]
xref: DOID:8410 {source="MONDO:equivalentTo"}
xref: MEDGEN:272468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6565 {source="MONDO:equivalentTo", source="DOID:8410"}
xref: UMLS:C1333000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272468"}
is_a: MONDO:0004555 {source="DOID:8410", source="MONDO:Redundant", source="NCIT:C6565"} ! kidney angiomyolipoma
intersection_of: MONDO:0004555 ! kidney angiomyolipoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0004555
name: kidney angiomyolipoma
def: "An angiomyolipoma arising from the kidney." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angiomyolipoma of kidney" EXACT [NCIT:C3888]
synonym: "angiomyolipoma of the kidney" EXACT [NCIT:C3888]
synonym: "kidney angiomyolipoma" EXACT [MONDO:patterns/location]
synonym: "RAML" RELATED ABBREVIATION [ONCOTREE:RAML]
synonym: "renal angiomyolipoma" EXACT [DOID:8411, NCIT:C3888]
xref: DOID:8411 {source="MONDO:equivalentTo"}
xref: MEDGEN:69146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3888 {source="MONDO:equivalentTo", source="DOID:8411"}
xref: ONCOTREE:RAML {source="MONDO:equivalentTo"}
xref: SCTID:254921004 {source="MONDO:equivalentTo", source="DOID:8411"}
xref: UMLS:C0241961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:69146"}
is_a: MONDO:0002513 {source="DOID:8411"} ! kidney benign neoplasm
is_a: MONDO:0002603 {source="DOID:8411", source="MONDO:Redundant", source="NCIT:C3888"} ! angiomyolipoma
intersection_of: MONDO:0002603 ! angiomyolipoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0004556
name: carcinoma arising in nasal papillomatosis
def: "A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose." [NCIT:C27389]
synonym: "carcinoma arising in nasal papillomatosis" EXACT [NCIT:C27389]
xref: DOID:8415 {source="MONDO:equivalentTo"}
xref: MEDGEN:272434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27389 {source="DOID:8415", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272434"}
is_a: MONDO:0003212 {source="DOID:8415", source="NCIT:C27389"} ! nasal cavity carcinoma

[Term]
id: MONDO:0004557
name: congenital fibrosarcoma
def: "A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital fibrosarcoma" EXACT [NCIT:C4244]
synonym: "IFS" RELATED ABBREVIATION [ONCOTREE:IFS]
synonym: "infantile fibrosarcoma" EXACT [NCIT:C4244]
synonym: "infantile fibrosarcoma (congenital fibrosarcoma)" EXACT [NCIT:C4244]
synonym: "infantile fibrosarcoma (morphologic abnormality)" EXACT [DOID:8418]
xref: DOID:8418 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8814/3 {source="NCIT:C4244"}
xref: MEDGEN:87246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4244 {source="MONDO:equivalentTo", source="DOID:8418"}
xref: ONCOTREE:IFS {source="MONDO:equivalentTo"}
xref: SCTID:403996004 {source="MONDO:equivalentTo", source="DOID:8418"}
xref: SCTID:52040006 {source="DOID:8418"}
xref: UMLS:C0334459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87246"}
is_a: MONDO:0002677 {source="NCIT:C4244"} ! conventional fibrosarcoma
is_a: MONDO:0002678 {source="DOID:8418", source="NCIT:C4244"} ! pediatric fibrosarcoma
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0004558
name: thyroid gland macrofollicular adenoma
def: "A thyroid gland adenoma composed of large size follicles." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "colloid adenoma" RELATED [DOID:8419]
synonym: "macrofollicular adenoma" EXACT [NCIT:C4161]
synonym: "macrofollicular adenoma (morphologic abnormality)" EXACT [DOID:8419]
xref: DOID:8419 {source="MONDO:equivalentTo"}
xref: ICDO:8334/0 {source="NCIT:C4161"}
xref: MEDGEN:90763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4161 {source="DOID:8419", source="MONDO:equivalentTo"}
xref: SCTID:26545006 {source="DOID:8419"}
xref: UMLS:C0334329 {source="MONDO:equivalentTo", source="MEDGEN:90763", source="MONDO:MEDGEN"}
is_a: MONDO:0005032 {source="DOID:8419", source="NCIT:C4161"} ! follicular thyroid adenoma

[Term]
id: MONDO:0004559
name: malignant glandular tumor of peripheral nerve sheath
def: "A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glandular malignant peripheral nerve sheath tumor" EXACT [NCIT:C6560]
synonym: "glandular malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "glandular MPNST" EXACT [DOID:8420, NCIT:C6560]
synonym: "malignant glandular neoplasm of peripheral nerve sheath" EXACT [NCIT:C6560]
synonym: "malignant glandular neoplasm of the peripheral nerve sheath" EXACT [NCIT:C6560]
synonym: "malignant glandular peripheral nerve sheath neoplasm" EXACT [NCIT:C6560]
synonym: "malignant glandular peripheral nerve sheath tumor" EXACT [NCIT:C6560]
synonym: "malignant glandular peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "malignant glandular schwannoma" EXACT [NCIT:C6560]
synonym: "malignant glandular tumor of peripheral nerve sheath" EXACT [NCIT:C6560]
synonym: "malignant glandular tumor of the peripheral nerve sheath" EXACT [NCIT:C6560]
synonym: "malignant glandular tumour of the peripheral nerve sheath" EXACT OMO:0003005 []
xref: DOID:8420 {source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:232558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6560 {source="MONDO:equivalentTo", source="DOID:8420"}
xref: SCTID:699658004 {source="DOID:8420"}
xref: SCTID:699659007 {source="MONDO:equivalentTo", source="DOID:8420"}
xref: UMLS:C1333821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232558"}
is_a: MONDO:0017827 {source="DOID:8420", source="NCIT:C6560"} ! malignant peripheral nerve sheath tumor

[Term]
id: MONDO:0004560
name: follicular infundibulum tumor
synonym: "basal cell hamartoma with follicular differentiation" EXACT [NCIT:C4469]
synonym: "follicular infundibulum neoplasm" EXACT [NCIT:C4469]
synonym: "neoplasm of the follicular infundibulum" EXACT [DOID:8426, NCIT:C4469]
synonym: "tumor of follicular infundibulum" EXACT [DOID:8426]
synonym: "tumor of the follicular infundibulum" EXACT [NCIT:C4469]
synonym: "tumour of follicular infundibulum" EXACT OMO:0003005 []
synonym: "tumour of the follicular infundibulum" EXACT OMO:0003005 []
xref: DOID:8426 {source="MONDO:equivalentTo"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4469 {source="DOID:8426", source="MONDO:equivalentTo"}
xref: SCTID:254694002 {source="DOID:8426", source="MONDO:equivalentTo"}
xref: UMLS:C0346006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138031"}
is_a: MONDO:0003413 {source="DOID:8426", source="NCIT:C4469/inferred"} ! hair follicle neoplasm

[Term]
id: MONDO:0004561
name: retinal melanoma
def: "A melanoma affecting the retinal portion of the eye. --2003" [NCIT:C8601]
synonym: "malignant melanoma of retina" EXACT [NCIT:C8601]
synonym: "malignant melanoma of the retina" EXACT [NCIT:C8601]
synonym: "malignant retinal melanoma" EXACT [DOID:8427, NCIT:C8601]
synonym: "melanoma (disease) of retina" EXACT []
synonym: "melanoma of retina" EXACT [NCIT:C8601]
synonym: "melanoma of the retina" EXACT [NCIT:C8601]
synonym: "retina melanoma" EXACT []
synonym: "retina melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "retinal melanoma" EXACT [NCIT:C8601]
xref: DOID:8427 {source="MONDO:equivalentTo"}
xref: MEDGEN:163431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8601 {source="DOID:8427", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:423673009 {source="DOID:8427", source="MONDO:equivalentTo"}
xref: UMLS:C0853394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163431"}
is_a: MONDO:0003072 {source="DOID:8427", source="MONDO:Redundant", source="NCIT:C8601"} ! retinal cancer
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C8601"} ! ocular melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0004562
name: breast apocrine carcinoma in situ
def: "A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation." [NCIT:P378]
synonym: "apocrine breast carcinoma in situ" EXACT [NCIT:C5140]
synonym: "apocrine carcinoma in situ of breast" EXACT [NCIT:C5140]
synonym: "apocrine carcinoma in situ of the breast" EXACT [DOID:8428, NCIT:C5140]
xref: DOID:8428 {source="MONDO:equivalentTo"}
xref: MEDGEN:231073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5140 {source="DOID:8428", source="MONDO:equivalentTo"}
xref: UMLS:C1332315 {source="MEDGEN:231073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004658 {source="DOID:8428"} ! breast carcinoma in situ

[Term]
id: MONDO:0004563
name: physiological polycythemia
def: "Polycythemia that is not pathologic." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:8431 {source="MONDO:equivalentTo"}
xref: MEDGEN:163545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27311 {source="MONDO:equivalentTo", source="DOID:8431"}
xref: UMLS:C0856817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163545"}
is_a: MONDO:0005571 {source="DOID:8431", source="NCIT:C27311/inferred"} ! polycythemia

[Term]
id: MONDO:0004564
name: thyroid malformation
def: "An anatomic abnormality of the thyroid gland." [NCIT:P378]
synonym: "thyroid gland malformation" EXACT [NCIT:C27331]
xref: DOID:8433 {source="MONDO:equivalentTo"}
xref: MEDGEN:209098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27331 {source="MONDO:equivalentTo", source="DOID:8433"}
xref: UMLS:C0877367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209098"}
is_a: MONDO:0003240 {source="DOID:8433"} ! thyroid gland disorder

[Term]
id: MONDO:0004565
name: intestinal obstruction
def: "Blockage of the normal flow of the intestinal contents within the bowel." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bowel obstruction" EXACT [NCIT:C9175]
xref: DOID:8437 {source="MONDO:equivalentTo"}
xref: ICD10CM:K56.60 {source="DOID:8437"}
xref: ICD10CM:K56.69 {source="DOID:8437"}
xref: ICD9:560.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:560.9 {source="DOID:8437", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007415 {source="DOID:8437", source="MONDO:equivalentTo"}
xref: NCIT:C9175 {source="DOID:8437", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:155771002 {source="DOID:8437"}
xref: SCTID:155777003 {source="DOID:8437"}
xref: SCTID:197072007 {source="DOID:8437"}
xref: SCTID:197073002 {source="DOID:8437"}
xref: SCTID:197074008 {source="DOID:8437"}
xref: SCTID:197080000 {source="DOID:8437"}
xref: SCTID:266523009 {source="DOID:8437"}
xref: SCTID:81060008 {source="DOID:8437", source="MONDO:equivalentTo"}
xref: UMLS:C0021843 {source="MEDGEN:43933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:8437", source="MESH:D007415"} ! intestinal disorder

[Term]
id: MONDO:0004566
name: postgastrectomy syndrome
def: "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." [MESH:D011178]
subset: otar {source="MONDO:OTAR"}
synonym: "postgastric surgery syndrome" EXACT [DOID:8439]
xref: DOID:8439 {source="MONDO:equivalentTo"}
xref: ICD10CM:K91.1 {source="DOID:8439"}
xref: ICD9:564.2 {source="DOID:8439", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:18588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011178 {source="DOID:8439", source="MONDO:equivalentTo"}
xref: SCTID:155785007 {source="DOID:8439"}
xref: SCTID:197126006 {source="DOID:8439"}
xref: SCTID:197128007 {source="DOID:8439"}
xref: SCTID:197129004 {source="DOID:8439"}
xref: SCTID:266527005 {source="DOID:8439"}
xref: SCTID:80193009 {source="DOID:8439", source="MONDO:equivalentTo"}
xref: UMLS:C0032763 {source="MEDGEN:18588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001318 {source="DOID:8439"} ! functional gastric disease
is_a: MONDO:0004298 {source="DOID:8439/inferred", source="MESH:D011178"} ! stomach disorder
is_a: MONDO:0005020 {source="DOID:8439"} ! intestinal disorder

[Term]
id: MONDO:0004567
name: ileus
def: "Decrease in peristalsis in the absence of a mechanical bowel obstruction." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ileus of intestine" EXACT [DOID:8440]
xref: DOID:8440 {source="MONDO:equivalentTo"}
xref: MEDGEN:219874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045823 {source="MONDO:equivalentTo", source="DOID:8440"}
xref: NCIT:C37979 {source="MONDO:equivalentTo", source="DOID:8440"}
xref: SCTID:278524008 {source="DOID:8440"}
xref: SCTID:710572000 {source="MONDO:equivalentTo"}
xref: SCTID:81060008 {source="DOID:8440"}
xref: UMLS:C1258215 {source="MEDGEN:219874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004565 {source="DOID:8440", source="MESH:D045823"} ! intestinal obstruction

[Term]
id: MONDO:0004568
name: paralytic ileus
def: "An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction." [NCIT:P378]
synonym: "paralytic ileus" EXACT [MONDO:ambiguous]
synonym: "paralytic ileus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:8442 {source="MONDO:equivalentTo"}
xref: HP:0002590 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K56.0 {source="DOID:8442"}
xref: ICD9:560.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8442"}
xref: MEDGEN:18293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007418 {source="DOID:8442", source="MONDO:directSiblingOf"}
xref: NCIT:C93045 {source="MONDO:equivalentTo", source="DOID:8442"}
xref: SCTID:155773004 {source="DOID:8442"}
xref: SCTID:55525008 {source="MONDO:equivalentTo", source="DOID:8442"}
xref: UMLS:C0030446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18293"}
is_a: MONDO:0004565 {source="DOID:8442", source="MONDO:Redundant"} ! intestinal obstruction
is_a: MONDO:0004567 {source="NCIT:C93045"} ! ileus
property_value: IAO:0000589 "paralytic ileus (disease)" xsd:string

[Term]
id: MONDO:0004569
name: brachial plexus neuropathy from injury
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brachial plexus lesion" EXACT [DOID:8443]
synonym: "brachial plexus lesions" EXACT [DOID:8443]
xref: DOID:8443 {source="MONDO:equivalentTo"}
xref: ICD9:353.0 {source="DOID:8443"}
xref: MEDGEN:507501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193109004 {source="DOID:8443"}
xref: SCTID:3548001 {source="DOID:8443"}
xref: UMLS:C0006091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507501"}
is_a: MONDO:0006683 {source="DOID:8443", source="MONDO:Redundant"} ! brachial plexus neuropathy
intersection_of: MONDO:0006683 ! brachial plexus neuropathy
intersection_of: disease_arises_from_feature MONDO:0021178 ! injury

[Term]
id: MONDO:0004570
name: intestinal volvulus
def: "Twisting of a loop of bowel that results in intestinal obstruction." [NCIT:P378]
synonym: "intestinal volvulus" EXACT [DOID:8445]
synonym: "twist of intestine, bowel, or colon" EXACT [DOID:8445]
synonym: "volvulus" EXACT [DOID:8445, ICD9CM:560.2]
xref: DOID:8445 {source="MONDO:equivalentTo"}
xref: ICD10CM:K56.2 {source="DOID:8445", source="MONDO:equivalentTo"}
xref: ICD9:560.2 {source="DOID:8445", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045822 {source="DOID:8445", source="MONDO:equivalentTo"}
xref: NCIT:C98963 {source="DOID:8445", source="MONDO:otherHierarchy"}
xref: SCTID:155774005 {source="DOID:8445"}
xref: SCTID:197057008 {source="DOID:8445"}
xref: SCTID:197061002 {source="DOID:8445"}
xref: SCTID:90738007 {source="DOID:8445"}
xref: SCTID:9707006 {source="DOID:8445", source="MONDO:equivalentTo"}
xref: UMLS:C0042961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21892"}
is_a: MONDO:0004565 {source="DOID:8445", source="MESH:D045822"} ! intestinal obstruction

[Term]
id: MONDO:0004571
name: intestinal impaction
subset: otar {source="MONDO:OTAR"}
xref: DOID:8448 {source="MONDO:equivalentTo"}
xref: ICD10CM:K56.4 {source="DOID:8448"}
xref: ICD10CM:K56.49 {source="DOID:8448"}
xref: ICD9:560.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:560.39 {source="DOID:8448", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:581145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197540000 {source="DOID:8448"}
xref: SCTID:62851005 {source="MONDO:equivalentTo"}
xref: UMLS:C0392503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581145"}
is_a: MONDO:0004565 {source="DOID:8448"} ! intestinal obstruction

[Term]
id: MONDO:0004572
name: cyclothymic disorder
def: "An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood." [MESH:D003527]
synonym: "affective personality disorder" EXACT [DOID:845, ICD9CM:301.1]
synonym: "cycloid personality" EXACT [DOID:845]
synonym: "cyclothymia" EXACT [DOID:845]
synonym: "cyclothymic personality" EXACT [DOID:845]
xref: DOID:845 {source="MONDO:equivalentTo"}
xref: ICD10CM:F34.0 {source="DOID:845", source="MONDO:equivalentTo"}
xref: ICD9:301.1 {source="DOID:845"}
xref: ICD9:301.10 {source="DOID:845", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:301.13 {source="DOID:845", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003527 {source="DOID:845", source="MONDO:equivalentTo"}
xref: SCTID:14697007 {source="DOID:845"}
xref: SCTID:191751008 {source="DOID:845"}
xref: SCTID:191752001 {source="DOID:845"}
xref: SCTID:191754000 {source="DOID:845"}
xref: SCTID:191755004 {source="DOID:845"}
xref: SCTID:192383002 {source="DOID:845"}
xref: SCTID:268756002 {source="DOID:845"}
xref: SCTID:286737005 {source="DOID:845"}
xref: SCTID:386798001 {source="DOID:845"}
xref: SCTID:76105009 {source="DOID:845", source="MONDO:equivalentTo"}
xref: UMLS:C0010598 {source="MEDGEN:1198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005371 {source="DOID:845/inferred", source="ICD10CM:F34.0/inferred", source="MESH:D003527"} ! mood disorder
relationship: excluded_subClassOf MONDO:0004985 {source="DOID:845", source="https://orcid.org/0000-0001-5208-3432"} ! bipolar disorder

[Term]
id: MONDO:0004573
name: ariboflavinosis
def: "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)" [MESH:D012257]
subset: otar {source="MONDO:OTAR"}
synonym: "riboflavin deficiency" EXACT [OMIM:615026]
synonym: "vitamin B2 deficiency" EXACT [DOID:8454]
xref: DOID:8454 {source="MONDO:equivalentTo"}
xref: ICD10CM:E53.0 {source="DOID:8454"}
xref: ICD9:266.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8454"}
xref: MEDGEN:20573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012257 {source="DOID:8454"}
xref: OMIM:615026 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/3272"}
xref: SCTID:154726004 {source="DOID:8454"}
xref: SCTID:20307000 {source="MONDO:equivalentTo", source="DOID:8454"}
xref: SCTID:267492001 {source="DOID:8454"}
xref: UMLS:C0035528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20573"}
is_a: MONDO:0006873 {source="DOID:8454"} ! nutritional deficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30225 {source="MONDO:mim2gene_medgen"} ! SLC52A1

[Term]
id: MONDO:0004574
name: pyridoxine deficiency anemia
def: "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia." [NCIT:P378]
synonym: "B6 deficiencies, vitamin" RELATED [MESH:D026681]
synonym: "B6 deficiency, vitamin" RELATED [MESH:D026681]
synonym: "B6 vitamin deficiencies" RELATED [MESH:D026681]
synonym: "B6 vitamin deficiency" RELATED [MESH:D026681]
synonym: "deficiencies, B6 vitamin" RELATED [MESH:D026681]
synonym: "deficiencies, vitamin B6" RELATED [MESH:D026681]
synonym: "deficiency, B6 vitamin" RELATED [MESH:D026681]
synonym: "deficiency, pyridoxine" RELATED [MESH:D026681]
synonym: "deficiency, vitamin B 6" RELATED [MESH:D026681]
synonym: "deficiency, vitamin B6" RELATED [MESH:D026681]
synonym: "pyridoxine deficiency" RELATED [MESH:D026681]
synonym: "pyridoxine Deficincy" EXACT [NCIT:C85221]
synonym: "vitamin B6 deficiencies" RELATED [MESH:D026681]
synonym: "vitamin B6 deficiency" RELATED [GARD:0004616, MESH:D026681]
synonym: "vitamin B6 deficiency syndrome" EXACT [DOID:8455]
synonym: "vitamin deficiencies, B6" RELATED [MESH:D026681]
synonym: "vitamin deficiency, B6" RELATED [GARD:0004616, MESH:D026681]
xref: DOID:8455 {source="MONDO:equivalentTo"}
xref: ICD10CM:E53.1 {source="DOID:8455"}
xref: ICD9:266.1 {source="DOID:8455"}
xref: ICD9:281.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:543733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D026681 {source="MONDO:equivalentTo", source="DOID:8455"}
xref: NCIT:C85221 {source="MONDO:equivalentTo", source="DOID:8455"}
xref: SCTID:18881008 {source="DOID:8455"}
xref: SCTID:386080007 {source="DOID:8455"}
xref: SCTID:86448001 {source="MONDO:equivalentTo"}
xref: UMLS:C0272013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543733"}
is_a: MONDO:0006873 {source="DOID:8455", source="MESH:D026681/inferred"} ! nutritional deficiency disease
is_a: MONDO:0042976 {source="MESH:D026681", source="NCIT:C85221"} ! vitamin B deficiency

[Term]
id: MONDO:0004575
name: choline deficiency disease
def: "A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)" [MESH:D002796]
synonym: "choline deficiency" EXACT [DOID:8456]
xref: DOID:8456 {source="MONDO:equivalentTo"}
xref: ICD9:266.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002796 {source="DOID:8456", source="MONDO:equivalentTo"}
xref: SCTID:238113006 {source="DOID:8456", source="MONDO:equivalentTo"}
xref: UMLS:C0008412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930"}
is_a: MONDO:0006873 {source="DOID:8456", source="MESH:D002796/inferred"} ! nutritional deficiency disease

[Term]
id: MONDO:0004576
name: obsolete pellagra
is_obsolete: true
replaced_by: MONDO:0019975

[Term]
id: MONDO:0004577
name: corneal ulcer
def: "Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber." [NCIT:P378]
synonym: "cornea ulcer disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ulcer disease of cornea" EXACT [MONDO:design_pattern]
synonym: "Ulcer, corneal" EXACT [NCIT:C50515]
xref: DOID:8463 {source="MONDO:equivalentTo"}
xref: HP:0200020 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H16.0 {source="MONDO:equivalentTo", source="DOID:8463"}
xref: ICD10CM:H16.00 {source="DOID:8463"}
xref: ICD9:370.0 {source="DOID:8463"}
xref: ICD9:370.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8463"}
xref: MEDGEN:40486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003320 {source="MONDO:equivalentTo", source="DOID:8463"}
xref: NCIT:C50515 {source="MONDO:equivalentTo", source="DOID:8463"}
xref: SCTID:155152009 {source="DOID:8463"}
xref: SCTID:193758008 {source="DOID:8463"}
xref: SCTID:193759000 {source="DOID:8463"}
xref: SCTID:193763007 {source="DOID:8463"}
xref: SCTID:91514001 {source="MONDO:equivalentTo", source="DOID:8463"}
xref: UMLS:C0010043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40486"}
is_a: MONDO:0003085 {source="DOID:8463", source="ICD10CM:H16.0", source="MESH:D003320"} ! keratitis
intersection_of: MONDO:0043839 ! ulcer disease
intersection_of: disease_has_location UBERON:0000964 ! cornea
relationship: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0004578
name: flat retinoschisis
xref: DOID:8464 {source="MONDO:equivalentTo"}
xref: ICD9:361.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8464"}
xref: MEDGEN:509672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193332006 {source="DOID:8464"}
xref: SCTID:83405000 {source="MONDO:equivalentTo", source="DOID:8464"}
xref: UMLS:C0154817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509672"}
is_a: MONDO:0004579 {source="DOID:8464"} ! retinoschisis

[Term]
id: MONDO:0004579
name: retinoschisis
def: "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8465 {source="MONDO:equivalentTo"}
xref: ICD10CM:H33.10 {source="DOID:8465"}
xref: ICD9:361.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8465"}
xref: MEDGEN:56292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D041441 {source="MONDO:equivalentTo", source="DOID:8465"}
xref: NCIT:C85046 {source="MONDO:equivalentTo", source="DOID:8465"}
xref: SCTID:193330003 {source="DOID:8465"}
xref: SCTID:389992006 {source="DOID:8465"}
xref: SCTID:44268007 {source="MONDO:equivalentTo", source="DOID:8465"}
xref: UMLS:C0152439 {source="MEDGEN:56292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="DOID:8465", source="MESH:D041441"} ! retinal degeneration

[Term]
id: MONDO:0004580
name: retinal degeneration
def: "Degeneration of the retina." [NCIT:C34979]
subset: otar {source="MONDO:OTAR"}
synonym: "degeneration of retina" EXACT [DOID:8466]
synonym: "retina degeneration" EXACT [DOID:8466, MTH:649]
synonym: "retina, Degeneration Of" EXACT [NCIT:C34979]
xref: DOID:8466 {source="MONDO:equivalentTo"}
xref: MEDGEN:48432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012162 {source="MONDO:equivalentTo", source="DOID:8466"}
xref: NCIT:C34979 {source="MONDO:equivalentTo", source="DOID:8466"}
xref: SCTID:95695004 {source="MONDO:equivalentTo", source="DOID:8466"}
xref: UMLS:C0035304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48432"}
is_a: MONDO:0005283 {source="DOID:8466", source="MESH:D012162"} ! retinal disorder

[Term]
id: MONDO:0004581
name: obsolete localized scleroderma
is_obsolete: true
replaced_by: MONDO:0019562

[Term]
id: MONDO:0004582
name: rheumatic myocarditis
def: "Inflammation of the myocardium in acute rheumatic heart disease." [NCIT:C35202]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "active rheumatic fever with myocarditis" EXACT [DOID:8481]
synonym: "acute rheumatic carditis" EXACT [DOID:8481]
synonym: "acute rheumatic myocarditis" EXACT [DOID:8481, ICD9CM:391.2, NCIT:C35202]
synonym: "acute rheumatic myocarditis (disorder) [ambiguous]" EXACT [DOID:8481]
synonym: "rheumatic degeneration of myocardium" EXACT [DOID:8481]
synonym: "rheumatic fever with myocarditis" EXACT [DOID:8481]
synonym: "rheumatic myocarditis" EXACT [DOID:8481, ICD9CM:398.0]
synonym: "rheumatoid myocarditis" EXACT [DOID:8481]
xref: DOID:8481 {source="MONDO:equivalentTo"}
xref: ICD10CM:I01.9 {source="DOID:8481"}
xref: ICD10CM:I09.0 {source="DOID:8481"}
xref: ICD10CM:M05.3 {source="DOID:8481"}
xref: ICD9:391.9 {source="DOID:8481"}
xref: ICD9:398.0 {source="DOID:8481"}
xref: MEDGEN:56370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34985 {source="DOID:8481"}
xref: NCIT:C35202 {source="MONDO:equivalentTo"}
xref: SCTID:155270000 {source="DOID:8481"}
xref: SCTID:194713007 {source="DOID:8481"}
xref: SCTID:194750008 {source="DOID:8481"}
xref: SCTID:195136004 {source="MONDO:equivalentTo", source="DOID:8481"}
xref: SCTID:266285003 {source="DOID:8481"}
xref: SCTID:312591002 {source="DOID:8481"}
xref: SCTID:367538001 {source="DOID:8481"}
xref: SCTID:4536006 {source="DOID:8481"}
xref: SCTID:8805001 {source="DOID:8481"}
xref: UMLS:C0155557 {source="MEDGEN:56370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006955 {source="DOID:8481", source="NCIT:C35202/inferred"} ! rheumatic heart disease
intersection_of: MONDO:0004496 ! myocarditis
intersection_of: disease_arises_from_feature MONDO:0008383 ! rheumatoid arthritis

[Term]
id: MONDO:0004583
name: transient retinal arterial occlusion
def: "A partial, temporary occlusion of the retinal artery." [NCIT:C35193]
synonym: "retinal transient arterial occlusion" EXACT [DOID:8482]
synonym: "transient arterial retinal occlusion" EXACT [DOID:8482]
synonym: "transient retinal arterial occlusion" EXACT [DOID:8482, ICD9CM:362.34, NCIT:C35193]
xref: DOID:8482 {source="MONDO:equivalentTo"}
xref: ICD10CM:H34.0 {source="DOID:8482"}
xref: ICD9:362.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8482"}
xref: MEDGEN:102320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35193 {source="MONDO:equivalentTo", source="DOID:8482"}
xref: SCTID:193377008 {source="DOID:8482"}
xref: SCTID:87224000 {source="MONDO:equivalentTo", source="DOID:8482"}
xref: UMLS:C0154840 {source="MEDGEN:102320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006948 {source="DOID:8482", source="MONDO:Redundant", source="NCIT:C35193"} ! retinal artery occlusion
intersection_of: MONDO:0006948 ! retinal artery occlusion
intersection_of: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0004584
name: maple bark strippers' lung
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alveolitis due to cryptostroma corticale" EXACT [DOID:8484]
synonym: "maple bark disease" EXACT [DOID:8484]
synonym: "maple bark stripper's disease" EXACT [DOID:8484]
synonym: "maple bark stripper's lung" EXACT [DOID:8484]
synonym: "maple bark-strippers' lung" EXACT [DOID:8484, ICD9CM:495.6]
synonym: "maple-bark strippers' lung" EXACT [DOID:8484]
xref: DOID:8484 {source="MONDO:equivalentTo"}
xref: ICD10CM:J67.6 {source="DOID:8484"}
xref: ICD9:495.6 {source="DOID:8484"}
xref: MEDGEN:510126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:86638007 {source="MONDO:equivalentTo", source="DOID:8484"}
xref: UMLS:C0155890 {source="MONDO:equivalentTo", source="MEDGEN:510126", source="MONDO:MEDGEN"}
is_a: MONDO:0002312 {source="DOID:8484"} ! opportunistic mycosis
is_a: MONDO:0017853 ! hypersensitivity pneumonitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1463975 ! Cryptostroma corticale
relationship: has_characteristic MONDO:0045035 ! opportunistic infectious

[Term]
id: MONDO:0004585
name: polyhydramnios
def: "An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm." [NCIT:P378]
comment: May be obsoleted as it represents a finding
synonym: "polyhydramnios" EXACT [MONDO:ambiguous]
synonym: "polyhydramnios (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:8488 {source="MONDO:equivalentTo"}
xref: HP:0001561 {source="MONDO:otherHierarchy"}
xref: ICD10CM:O30-O48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:O40 {source="DOID:8488"}
xref: ICD9:657 {source="DOID:8488"}
xref: ICD9:657.0 {source="DOID:8488"}
xref: ICD9:657.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006831 {source="MONDO:equivalentTo", source="DOID:8488"}
xref: NCIT:C92848 {source="MONDO:otherHierarchy", source="DOID:8488"}
xref: SCTID:156188008 {source="DOID:8488"}
xref: SCTID:157052008 {source="DOID:8488"}
xref: SCTID:199644009 {source="DOID:8488"}
xref: SCTID:199645005 {source="DOID:8488"}
xref: SCTID:199648007 {source="DOID:8488"}
xref: SCTID:199650004 {source="DOID:8488"}
xref: SCTID:267261001 {source="DOID:8488"}
xref: SCTID:405235009 {source="DOID:8488"}
xref: SCTID:86203003 {source="MONDO:equivalentTo", source="DOID:8488"}
xref: UMLS:C0020224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6936"}
is_a: MONDO:0024575 ! pregnancy disorder
relationship: disease_has_location UBERON:0000301 ! amniotic cavity
relationship: excluded_subClassOf MONDO:0005917 {source="DOID:8488", source="https://orcid.org/0000-0001-5208-3432"} ! placenta disorder
property_value: IAO:0000589 "polyhydramnios (disease)" xsd:string

[Term]
id: MONDO:0004586
name: rheumatoid lung disease
def: "Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis." [https://medlineplus.gov/ency/article/000113.htm, PMID:17684286]
subset: otar {source="MONDO:OTAR"}
synonym: "rheumatoid lung" EXACT [DOID:849]
xref: DOID:849 {source="MONDO:equivalentTo"}
xref: ICD9:714.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:849"}
xref: MEDGEN:681135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111280008 {source="DOID:849"}
xref: SCTID:155621007 {source="DOID:849"}
xref: SCTID:196132006 {source="DOID:849"}
xref: SCTID:201794001 {source="DOID:849"}
xref: SCTID:201813004 {source="DOID:849"}
xref: SCTID:398726004 {source="MONDO:equivalentTo", source="DOID:849"}
xref: UMLS:C0994344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:681135"}
is_a: MONDO:0005275 {source="DOID:849", source="MONDO:Redundant"} ! lung disorder
is_a: MONDO:0007179 {source="DOID:849", source="MONDO:Redundant"} ! autoimmune disease
intersection_of: MONDO:0005275 ! lung disorder
intersection_of: disease_arises_from_feature MONDO:0008383 ! rheumatoid arthritis

[Term]
id: MONDO:0004587
name: hereditary night blindness
def: "An instance of night blindness that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Reason: duplicate. This will be merged with MONDO:0019152 Oguchi disease
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "congenital night blindness" EXACT [DOID:8498, ICD9CM:368.61]
synonym: "hereditary night blindness" EXACT [MONDO:patterns/hereditary]
synonym: "Oguchi's disease" BROAD [DOID:8498]
xref: DOID:8498 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.63 {source="DOID:8498"}
xref: ICD9:368.61 {source="MONDO:directSiblingOf", source="DOID:8498"}
xref: MESH:C537743 {source="MONDO:relatedTo", source="DOID:8498"}
xref: SCTID:193687000 {source="MONDO:equivalentTo", source="DOID:8498"}
xref: SCTID:193688005 {source="DOID:8498"}
xref: SCTID:193689002 {source="DOID:8498"}
xref: SCTID:89208008 {source="DOID:8498"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0004588 {source="DOID:8498", source="MONDO:Redundant"} ! night blindness
intersection_of: MONDO:0004588 ! night blindness
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7213" xsd:anyURI
property_value: IAO:0006012 "2024-05-01" xsd:string

[Term]
id: MONDO:0004588
name: night blindness
def: "Inability to see clearly in dim light." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "nyctalopia" EXACT [NCIT:C34850]
xref: DOID:8499 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.6 {source="MONDO:equivalentTo", source="DOID:8499"}
xref: ICD10CM:H53.60 {source="DOID:8499"}
xref: ICD9:368.6 {source="DOID:8499"}
xref: ICD9:368.60 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8499"}
xref: ICD9:368.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009755 {source="MONDO:equivalentTo", source="DOID:8499"}
xref: NCIT:C34850 {source="MONDO:equivalentTo", source="DOID:8499"}
xref: NCIT:C37997 {source="MONDO:otherHierarchy", source="DOID:8499"}
xref: SCTID:155144006 {source="DOID:8499"}
xref: SCTID:193686009 {source="DOID:8499"}
xref: SCTID:193693008 {source="DOID:8499"}
xref: SCTID:65194006 {source="MONDO:equivalentTo", source="DOID:8499"}
xref: SCTID:75390007 {source="DOID:8499"}
xref: UMLS:C0028077 {source="MEDGEN:10349", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001941 {source="NCIT:C34850"} ! blindness (disorder)
is_a: MONDO:0005283 {source="DOID:8499", source="MONDO:Redundant"} ! retinal disorder

[Term]
id: MONDO:0004589
name: obsolete hereditary retinal dystrophy
is_obsolete: true
replaced_by: MONDO:0019118

[Term]
id: MONDO:0004590
name: obsolete fundus dystrophy
is_obsolete: true
replaced_by: MONDO:0019118

[Term]
id: MONDO:0004591
name: impetigo herpetiformis
def: "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." [DOID:8503, http://en.wikipedia.org/wiki/Impetigo_herpetiformis]
xref: DOID:8503 {source="MONDO:equivalentTo"}
xref: ICD10CM:L40.1 {source="DOID:8503"}
xref: ICD9:694.3 {source="DOID:8503", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:727290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200243 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:200973000 {source="DOID:8503"}
xref: SCTID:65539006 {source="DOID:8503", source="MONDO:equivalentTo"}
xref: UMLS:C1314968 {source="MEDGEN:727290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004592 {source="DOID:8503", source="EFO:1000715"} ! impetigo
is_a: MONDO:0024575 ! pregnancy disorder

[Term]
id: MONDO:0004592
name: impetigo
def: "A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs." [NCIT:P378]
xref: DOID:8504 {source="MONDO:equivalentTo"}
xref: ICD10CM:L01 {source="DOID:8504", source="MONDO:equivalentTo"}
xref: ICD10CM:L01.0 {source="DOID:8504"}
xref: ICD10CM:L01.00 {source="DOID:8504"}
xref: ICD9:684 {source="DOID:8504", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007169 {source="DOID:8504", source="MONDO:equivalentTo"}
xref: NCIT:C99088 {source="DOID:8504", source="MONDO:equivalentTo"}
xref: SCTID:156319000 {source="DOID:8504"}
xref: SCTID:200710001 {source="DOID:8504"}
xref: SCTID:267836006 {source="DOID:8504"}
xref: SCTID:48277006 {source="DOID:8504", source="MONDO:equivalentTo"}
xref: UMLS:C0021099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9440"}
is_a: MONDO:0002922 {source="DOID:8504"} ! pyoderma
is_a: MONDO:0005113 {source="MESH:D007169/inferred", source="MONDO:Redundant", source="NCIT:C99088"} ! bacterial infectious disease
is_a: MONDO:0021201 {source="MONDO:Entailed", source="NCIT:C99088"} ! skin infection
relationship: disease_has_infectious_agent NCBITaxon:1280 {source="MONDO:Wikidata"} ! Staphylococcus aureus
relationship: disease_has_infectious_agent NCBITaxon:1314 {source="MONDO:Wikidata"} ! Streptococcus pyogenes

[Term]
id: MONDO:0004593
name: Bartholin duct cyst
def: "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Bartholin's cyst" EXACT [DOID:851, NCIT:C26706]
synonym: "Bartholin's duct cyst" EXACT [DOID:851]
synonym: "cyst of Bartholin's gland" EXACT [DOID:851]
synonym: "cyst of Bartholin's gland duct" EXACT [DOID:851]
xref: DOID:851 {source="MONDO:equivalentTo"}
xref: ICD10CM:N75.0 {source="MONDO:equivalentTo", source="DOID:851"}
xref: ICD9:616.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:851"}
xref: MEDGEN:14032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26706 {source="MONDO:otherHierarchy", source="DOID:851"}
xref: SCTID:155982004 {source="DOID:851"}
xref: SCTID:27978000 {source="DOID:851"}
xref: SCTID:57044006 {source="MONDO:equivalentTo", source="DOID:851"}
xref: UMLS:C0004767 {source="MEDGEN:14032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:851"} ! female reproductive system disorder
relationship: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0004594
name: puerperal pulmonary embolism
xref: DOID:8512 {source="MONDO:equivalentTo"}
xref: ICD10CM:O88.21 {source="DOID:8512"}
xref: ICD10CM:O88.23 {source="DOID:8512"}
xref: ICD9:673 {source="DOID:8512"}
xref: ICD9:673.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:673.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:510381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156273009 {source="DOID:8512"}
xref: SCTID:200284000 {source="DOID:8512", source="MONDO:equivalentTo"}
xref: SCTID:200320009 {source="DOID:8512"}
xref: SCTID:200321008 {source="DOID:8512"}
xref: SCTID:200326003 {source="DOID:8512"}
xref: SCTID:237341004 {source="DOID:8512"}
xref: SCTID:50286006 {source="DOID:8512"}
xref: UMLS:C0157540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510381"}
is_a: MONDO:0005279 {source="DOID:8512"} ! pulmonary embolism

[Term]
id: MONDO:0004595
name: obsolete acute pulmonary heart disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5145" xsd:string
is_obsolete: true
replaced_by: MONDO:0004598

[Term]
id: MONDO:0004596
name: cor pulmonale
def: "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." [MESH:D011660]
subset: otar {source="MONDO:OTAR"}
synonym: "cardiopulmonary disease" EXACT [DOID:8515]
synonym: "cor pulmonale" EXACT [MESH:D011660]
synonym: "disease, pulmonary heart" RELATED [MESH:D011660]
synonym: "diseases, pulmonary heart" RELATED [MESH:D011660]
synonym: "heart disease, pulmonary" RELATED [MESH:D011660]
synonym: "heart diseases, pulmonary" RELATED [MESH:D011660]
synonym: "pulmonary heart disease" EXACT [DOID:8515, https://en.wikipedia.org/wiki/Pulmonary_heart_disease]
synonym: "pulmonary heart diseases" RELATED [MESH:D011660]
xref: DOID:8515 {source="MONDO:equivalentTo"}
xref: ICD10CM:I26-I28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I27.81 {source="DOID:8515", source="MONDO:equivalentTo"}
xref: ICD10CM:I27.9 {source="DOID:8515"}
xref: MEDGEN:18765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011660 {source="DOID:8515", source="MONDO:equivalentTo"}
xref: SCTID:155323004 {source="DOID:8515"}
xref: SCTID:155329000 {source="DOID:8515"}
xref: SCTID:194879006 {source="DOID:8515"}
xref: SCTID:266294009 {source="DOID:8515"}
xref: SCTID:274096000 {source="DOID:8515", source="MONDO:equivalentTo"}
xref: SCTID:286952009 {source="DOID:8515"}
xref: SCTID:83291003 {source="DOID:8515"}
xref: UMLS:C0034072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18765"}
is_a: MONDO:0005009 {source="DOID:8515"} ! congestive heart failure
is_a: MONDO:0005267 {source="DOID:8515/inferred", source="MESH:D011660", source="MONDO:Redundant"} ! heart disorder

[Term]
id: MONDO:0004597
name: pulmonary embolism and infarction
def: "Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism." [NCIT:C50714]
comment: Editor note: add terms for pulmonary necrosis
synonym: "infarction, pulmonary" EXACT [NCIT:C50714]
synonym: "lung infarction" RELATED [Wikipedia:Lung_infarction]
synonym: "pulmonary infarction" RELATED []
xref: DOID:8516 {source="MONDO:equivalentTo"}
xref: ICD9:415.1 {source="DOID:8516"}
xref: ICD9:415.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054060 {source="MONDO:equivalentTo"}
xref: NCIT:C50714 {source="MONDO:equivalentTo"}
xref: SCTID:1001000119102 {source="DOID:8516"}
xref: SCTID:64662007 {source="MONDO:equivalentTo"}
xref: UMLS:C0034074 {source="MONDO:equivalentTo", source="MEDGEN:19577", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 {source="NCIT:C50714"} ! lung disorder
relationship: excluded_subClassOf MONDO:0004595 {source="DOID:8516", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acute pulmonary heart disease

[Term]
id: MONDO:0004598
name: acute cor pulmonale
def: "A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation." [PMID:19186411]
synonym: "acute pulmonary heart disease" EXACT [MONDO:0004595]
synonym: "cor pulmonale, acute" EXACT [MONDO:patterns/acute]
xref: DOID:8514 {source="MONDO:equivalentTo"}
xref: DOID:8517 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: ICD10CM:I26.09 {source="DOID:8517"}
xref: ICD9:415 {source="DOID:8514"}
xref: ICD9:415.0 {source="MONDO:equivalentTo", source="DOID:8517", source="MONDO:i2s"}
xref: MEDGEN:510041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155324005 {source="DOID:8514"}
xref: SCTID:155325006 {source="DOID:8517"}
xref: SCTID:194880009 {source="DOID:8514"}
xref: SCTID:194881008 {source="DOID:8517"}
xref: SCTID:194884000 {source="DOID:8514"}
xref: SCTID:49584005 {source="MONDO:equivalentTo", source="DOID:8517"}
xref: SCTID:67189007 {source="DOID:8514", source="MONDO:equivalentTo"}
xref: UMLS:C0155671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510041"}
is_a: MONDO:0004596 {source="https://orcid.org/0000-0001-5208-3432"} ! cor pulmonale
intersection_of: MONDO:0004596 ! cor pulmonale
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5145" xsd:anyURI

[Term]
id: MONDO:0004599
name: barbiturate abuse
def: "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences." [DOID:8519, http://en.wikipedia.org/wiki/Barbiturate]
xref: DOID:8519 {source="MONDO:equivalentTo"}
xref: ICD9:305.43 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:8519"}
xref: MEDGEN:572718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:231462006 {source="MONDO:equivalentTo"}
xref: UMLS:C0338700 {source="MEDGEN:572718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002491 {source="DOID:8519", source="MONDO:Redundant"} ! substance abuse
intersection_of: MONDO:0002491 ! substance abuse
intersection_of: realized_in_response_to_stimulus CHEBI:29745 ! barbiturate

[Term]
id: MONDO:0004600
name: monocytic leukemia
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "schilling's leukaemia" EXACT OMO:0003005 []
synonym: "schilling's leukemia" EXACT [DOID:8527]
xref: DOID:8527 {source="MONDO:equivalentTo"}
xref: ICD10CM:C93.Z {source="DOID:8527"}
xref: ICD10CM:C93.Z0 {source="DOID:8527"}
xref: ICD9:206.8 {source="DOID:8527"}
xref: ICD9:206.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:206.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:206.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:206.91 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:109338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188744006 {source="MONDO:equivalentTo"}
xref: SCTID:188747004 {source="DOID:8527"}
xref: SCTID:188749001 {source="DOID:8527"}
xref: SCTID:190062007 {source="DOID:8527"}
xref: SCTID:190160002 {source="DOID:8527"}
xref: UMLS:C0598894 {source="MEDGEN:109338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005059 {source="DOID:8527/inferred"} ! leukemia

[Term]
id: MONDO:0004601
name: ulcer of lower limbs
def: "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." [DOID:8529, http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer]
synonym: "Ulcer of ankle" NARROW [DOID:8529]
synonym: "Ulcer of calf" NARROW [DOID:8529]
synonym: "Ulcer of heel and midfoot" NARROW [DOID:8529]
synonym: "Ulcer of thigh" NARROW [DOID:8529]
xref: DOID:8529 {source="MONDO:equivalentTo"}
xref: ICD9:707.13 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:419193008 {source="MONDO:equivalentTo"}
xref: UMLS:C0023223 {source="MEDGEN:9701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004605 {source="DOID:8529", source="EFO:0007068"} ! chronic ulcer of skin

[Term]
id: MONDO:0004602
name: obsolete polymyalgia rheumatica
is_obsolete: true
replaced_by: MONDO:0019735

[Term]
id: MONDO:0004603
name: collagenopathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
is_a: MONDO:0003900 {source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005581 ! collagen trimer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0004604
name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance
def: "A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)" [NCIT:P378]
subset: gard_rare {source="GARD:19593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:98845"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98845"}
subset: rare
synonym: "classic Hodgkin lymphoma, lymphocyte-rich type" EXACT [MONDO:0020329]
synonym: "Hodgkin lymphoma, lymphocyte-rich" EXACT [DOID:8543]
synonym: "Hodgkin lymphoma, lymphocytic-histiocytic predominance" EXACT [DOID:8543]
synonym: "Hodgkin's disease, lymphocyte predominance" EXACT [DOID:8543]
synonym: "Hodgkin's disease, lymphocyte predominance [obs]" EXACT [DOID:8543]
synonym: "LRCHL" EXACT ABBREVIATION [NCIT:C6913]
synonym: "lymphocyte rich classical Hodgkin lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte rich classical Hodgkin's disease" EXACT [NCIT:C6913]
synonym: "lymphocyte rich classical Hodgkin's lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte rich Hodgkin lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte rich Hodgkin's disease" EXACT [DOID:8543, NCIT:C6913]
synonym: "lymphocyte rich Hodgkin's lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte-rich Classic Hodgkin lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte-rich classical Hodgkin lymphoma" EXACT [NCIT:C6913]
synonym: "lymphocyte-rich classical Hodgkin's lymphoma" EXACT [NCIT:C6913]
xref: DOID:8543 {source="MONDO:equivalentTo"}
xref: GARD:19593 {source="MONDO:GARD"}
xref: ICD10CM:C81.4 {source="Orphanet:98845", source="Orphanet:98845/e", source="DOID:8543"}
xref: icd11.foundation:352299041 {source="MONDO:equivalentTo", source="Orphanet:98845", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:201.4 {source="DOID:8543"}
xref: ICDO:9651/3 {source="NCIT:C6913"}
xref: MedDRA:10020231 {source="Orphanet:98845", source="Orphanet:98845/e"}
xref: MEDGEN:224769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006689 {source="Orphanet:98845", source="Orphanet:98845/e", source="DOID:8543"}
xref: NCIT:C6913 {source="MONDO:equivalentTo", source="DOID:8543"}
xref: ONCOTREE:LRCHL {source="MONDO:equivalentTo"}
xref: Orphanet:98845 {source="MONDO:equivalentTo"}
xref: SCTID:118607005 {source="MONDO:equivalentTo", source="DOID:8543"}
xref: SCTID:128799007 {source="DOID:8543"}
xref: SCTID:188553001 {source="DOID:8543"}
xref: SCTID:188563009 {source="DOID:8543"}
xref: SCTID:189988001 {source="DOID:8543"}
xref: SCTID:59668005 {source="DOID:8543"}
xref: UMLS:C1266194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224769"}
is_a: MONDO:0004952 {source="DOID:8543", source="MONDO:0004604/inferred", source="MONDO:Redundant", source="NCIT:C6913/inferred", source="ONCOTREE:LRCHL/inferred"} ! Hodgkins lymphoma
is_a: MONDO:0009348 {source="NCIT:C6913", source="ONCOTREE:LRCHL", source="Orphanet:98845"} ! classic Hodgkin lymphoma

[Term]
id: MONDO:0004605
name: chronic ulcer of skin
synonym: "callous ulcer" EXACT [DOID:8549]
synonym: "callous ulcer (morphologic abnormality)" EXACT [DOID:8549]
synonym: "indolent ulcer" EXACT [DOID:8549]
synonym: "indolent ulcer (morphologic abnormality)" EXACT [DOID:8549]
xref: DOID:8549 {source="MONDO:equivalentTo"}
xref: ICD10CM:L98.4 {source="DOID:8549"}
xref: ICD9:707 {source="DOID:8549"}
xref: ICD9:707.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:707.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156423009 {source="DOID:8549"}
xref: SCTID:156426001 {source="DOID:8549"}
xref: SCTID:19429009 {source="DOID:8549", source="MONDO:equivalentTo"}
xref: SCTID:201259007 {source="DOID:8549"}
xref: UMLS:C0157738 {source="MEDGEN:510410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:8549"} ! skin disorder

[Term]
id: MONDO:0004606
name: obsolete pyoderma gangrenosum
is_obsolete: true
replaced_by: MONDO:0018824

[Term]
id: MONDO:0004607
name: vallecula cancer
def: "A cancer involving a epiglottic vallecula." [MONDO:patterns/cancer]
synonym: "cancer of epiglottic vallecula" EXACT [MONDO:patterns/cancer]
synonym: "epiglottic vallecula cancer" EXACT [MONDO:patterns/location]
synonym: "malignant epiglottic vallecula neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of epiglottic vallecula" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of vallecula" EXACT [DOID:8556]
synonym: "malignant tumour of vallecula" EXACT OMO:0003005 []
xref: DOID:8556 {source="MONDO:equivalentTo"}
xref: ICD10CM:C10.0 {source="DOID:8556", source="MONDO:equivalentTo"}
xref: ICD9:146.3 {source="DOID:8556", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363395000 {source="DOID:8556", source="MONDO:equivalentTo"}
xref: SCTID:94132005 {source="DOID:8556"}
xref: UMLS:C0153386 {source="MEDGEN:509271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004608 {source="DOID:8556", source="ICD10CM:C10.0"} ! oropharynx cancer
is_a: MONDO:0021310 {source="MONDO:Entailed"} ! malignant tumor of neck
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0013165 ! epiglottic vallecula

[Term]
id: MONDO:0004608
name: oropharynx cancer
def: "A primary or metastatic malignant neoplasm that affects the oropharynx." [NCIT:C7398]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of oropharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of junctional region of oropharynx" EXACT [DOID:8557]
synonym: "malignant neoplasm of lateral wall of oropharynx" EXACT [DOID:8557, MTH:U000704]
synonym: "malignant neoplasm of oropharynx" EXACT [DOID:8557, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C7398]
synonym: "malignant neoplasm of posterior wall of oropharynx" EXACT [DOID:8557]
synonym: "malignant neoplasm of the oropharynx" EXACT [NCIT:C7398]
synonym: "malignant oropharyngeal neoplasm" EXACT [NCIT:C7398]
synonym: "malignant oropharyngeal tumor" EXACT [DOID:8557, NCIT:C7398]
synonym: "malignant oropharyngeal tumour" EXACT OMO:0003005 []
synonym: "malignant oropharynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of mesopharynx" EXACT [DOID:8557]
synonym: "malignant tumor of oropharynx" EXACT [NCIT:C7398]
synonym: "malignant tumor of posterior wall of oropharynx" EXACT [DOID:8557]
synonym: "malignant tumor of the oropharynx" EXACT [NCIT:C7398]
synonym: "malignant tumour of mesopharynx" EXACT OMO:0003005 []
synonym: "malignant tumour of oropharynx" EXACT OMO:0003005 []
synonym: "malignant tumour of posterior wall of oropharynx" EXACT OMO:0003005 []
synonym: "malignant tumour of the oropharynx" EXACT OMO:0003005 []
synonym: "oropharyngeal cancer" EXACT [DOID:8557]
synonym: "oropharyngeal carcinoma" NARROW [DOID:8557, NCIT:C9105]
synonym: "oropharynx cancer" EXACT [MONDO:patterns/location]
synonym: "primary malignant neoplasm of lateral wall of oropharynx" EXACT [DOID:8557]
xref: DOID:8557 {source="MONDO:equivalentTo"}
xref: EFO:1001931 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C10 {source="DOID:8557", source="MONDO:equivalentTo"}
xref: ICD10CM:C10.2 {source="DOID:8557"}
xref: ICD10CM:C10.3 {source="DOID:8557"}
xref: ICD10CM:C10.8 {source="DOID:8557"}
xref: ICD10CM:C10.9 {source="DOID:8557"}
xref: ICD9:146 {source="DOID:8557"}
xref: ICD9:146.5 {source="DOID:8557"}
xref: ICD9:146.6 {source="DOID:8557"}
xref: ICD9:146.7 {source="DOID:8557"}
xref: ICD9:146.9 {source="DOID:8557"}
xref: MEDGEN:57783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009959 {source="MONDO:equivalentTo"}
xref: NCIT:C7398 {source="DOID:8557", source="MONDO:equivalentTo"}
xref: SCTID:187686007 {source="DOID:8557"}
xref: SCTID:187688008 {source="DOID:8557"}
xref: SCTID:187691008 {source="DOID:8557"}
xref: SCTID:363392002 {source="DOID:8557"}
xref: SCTID:373653002 {source="DOID:8557"}
xref: SCTID:448868009 {source="DOID:8557"}
xref: SCTID:93933005 {source="DOID:8557"}
xref: SCTID:93971002 {source="DOID:8557"}
xref: UMLS:C0153382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57783"}
is_a: MONDO:0005517 {source="DOID:8557", source="EFO:1001931", source="MESH:D009959", source="MONDO:Redundant", source="NCIT:C7398"} ! pharynx cancer
is_a: MONDO:0021364 {source="MONDO:Redundant", source="NCIT:C7398"} ! neoplasm of oropharynx
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001729 ! oropharynx

[Term]
id: MONDO:0004609
name: herpes simplex infectious disease
def: "A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)" [MESH:D006561]
subset: otar {source="MONDO:OTAR"}
synonym: "herpes simplex" RELATED []
synonym: "herpes simplex complex" RELATED []
synonym: "herpes simplex infection" RELATED []
synonym: "herpes simplex viral infection" RELATED []
synonym: "Herpesvirus hominis disease" EXACT [DOID:8566]
synonym: "Simplexvirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus disease or disorder" EXACT []
synonym: "Simplexvirus infectious disease" EXACT []
xref: DOID:8566 {source="MONDO:equivalentTo"}
xref: EFO:1002022 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B00 {source="DOID:8566", source="MONDO:equivalentTo"}
xref: ICD10CM:B00.9 {source="DOID:8566"}
xref: ICD9:054 {source="DOID:8566"}
xref: ICD9:058.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006561 {source="DOID:8566", source="MONDO:equivalentTo"}
xref: SCTID:154332007 {source="DOID:8566"}
xref: SCTID:186534002 {source="DOID:8566"}
xref: SCTID:266191005 {source="DOID:8566"}
xref: SCTID:88594005 {source="DOID:8566", source="MONDO:equivalentTo"}
xref: UMLS:C0019348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9234"}
is_a: MONDO:0005794 {source="MESH:D006561", source="MONDO:Redundant"} ! Herpesviridae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10294 ! disease has primary infectious agent Simplexvirus

[Term]
id: MONDO:0004610
name: obsolete multiple carboxylase deficiency
is_obsolete: true
replaced_by: MONDO:0015454

[Term]
id: MONDO:0004611
name: soft palate cancer
def: "A primary or metastatic malignant neoplasm that affects the soft palate." [NCIT:C3529]
synonym: "cancer of soft palate" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of soft palate" EXACT [MONDO:patterns/cancer, NCIT:C3529]
synonym: "malignant neoplasm of the soft palate" EXACT [NCIT:C3529]
synonym: "malignant soft palate neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3529]
synonym: "malignant soft palate tumor" EXACT [NCIT:C3529]
synonym: "malignant soft palate tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of soft palate" EXACT [NCIT:C3529]
synonym: "malignant tumor of the soft palate" EXACT [DOID:8578, NCIT:C3529]
synonym: "malignant tumour of soft palate" EXACT OMO:0003005 []
synonym: "malignant tumour of the soft palate" EXACT OMO:0003005 []
synonym: "soft palate cancer" EXACT [MONDO:patterns/location]
xref: DOID:8578 {source="MONDO:equivalentTo"}
xref: ICD10CM:C05.1 {source="DOID:8578", source="MONDO:equivalentTo"}
xref: ICD9:145.3 {source="DOID:8578", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3529 {source="DOID:8578", source="MONDO:equivalentTo"}
xref: SCTID:363388009 {source="DOID:8578", source="MONDO:equivalentTo"}
xref: SCTID:94049001 {source="DOID:8578"}
xref: UMLS:C0153376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57552"}
is_a: MONDO:0004608 {source="NCIT:C3529"} ! oropharynx cancer
is_a: MONDO:0005515 {source="DOID:8578", source="MONDO:Redundant", source="NCIT:C3529/inferred"} ! oral cavity cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001733 ! soft palate

[Term]
id: MONDO:0004612
name: malignant histiocytosis
def: "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells." [MESH:D015620]
synonym: "disorders, malignant histiocytic" RELATED [MESH:D015620]
synonym: "histiocytic disorder, malignant" RELATED [MESH:D015620]
synonym: "histiocytic medullary reticulosis" EXACT [DOID:8580, NCIT:C7202]
synonym: "malignant histiocytic disease" EXACT [MONDO:0002346]
synonym: "malignant histiocytic disorders" RELATED [MESH:D015620]
synonym: "malignant midline reticulosis" EXACT [DOID:8580]
synonym: "malignant reticulosis" EXACT [DOID:8580]
synonym: "Stewart's granuloma" EXACT [DOID:8580]
xref: DOID:2570 {source="MONDO:equivalentTo"}
xref: DOID:8580 {source="MONDO:equivalentObsolete"}
xref: ICD10CM:C96.A {source="MONDO:relatedTo", source="DOID:8580"}
xref: ICD9:202.3 {source="DOID:8580"}
xref: ICDO:9750/3 {source="NCIT:C7202"}
xref: MEDGEN:5569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015620 {source="MONDO:equivalentTo", source="DOID:2570"}
xref: MESH:D054747 {source="MONDO:relatedTo", source="DOID:8580"}
xref: NCIT:C7202 {source="MONDO:equivalentTo", source="DOID:8580"}
xref: SCTID:118612006 {source="MONDO:equivalentTo", source="DOID:8580"}
xref: SCTID:127070008 {source="DOID:2570"}
xref: SCTID:128920006 {source="DOID:8580"}
xref: SCTID:134179007 {source="DOID:8580"}
xref: SCTID:188643009 {source="DOID:8580"}
xref: SCTID:188690006 {source="DOID:8580"}
xref: SCTID:277648007 {source="DOID:8580"}
xref: SCTID:66855003 {source="DOID:8580"}
xref: SCTID:8139000 {source="DOID:8580"}
xref: UMLS:C0019623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5569"}
is_a: MONDO:0002637 {source="DOID:2570", source="DOID:8580", source="MESH:D015620", source="Wikipedia:Malignant_histiocytosis"} ! histiocytosis

[Term]
id: MONDO:0004613
name: acute intestinal ischemia
def: "Ischemia of the intestine that is rapid in onset." [NCIT:P378]
synonym: "acute gastrointestinal tract vascular insuffic." RELATED EXCLUDE [DOID:8590]
synonym: "acute git vascular insuffic." RELATED EXCLUDE [DOID:8590]
synonym: "acute intestinal ischemia" EXACT [DOID:8590, NCIT:C34356]
synonym: "acute intestinal vascular insufficiency" NARROW [DOID:8590]
xref: DOID:8590 {source="MONDO:equivalentTo"}
xref: ICD9:557.0 {source="DOID:8590", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34356 {source="DOID:8590", source="MONDO:equivalentTo"}
xref: SCTID:196998009 {source="DOID:8590"}
xref: SCTID:197004007 {source="DOID:8590"}
xref: SCTID:91489000 {source="DOID:8590", source="MONDO:equivalentTo"}
xref: UMLS:C0001363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116"}
is_a: MONDO:0005020 {source="DOID:8590", source="NCIT:C34356/inferred"} ! intestinal disorder
is_a: MONDO:0020675 {source="NCIT:C34356"} ! ischemic bowel disorder
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004614
name: chronic monocytic leukemia
def: "Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites." [MESH:D007951]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "monocytic leukemia, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:8593 {source="MONDO:equivalentTo"}
xref: ICD10CM:C93.1 {source="DOID:8593"}
xref: ICD9:206.1 {source="DOID:8593"}
xref: ICD9:206.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:206.11 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007951 {source="DOID:8593"}
xref: NCIT:C34774 {source="MONDO:equivalentTo", source="DOID:8593"}
xref: SCTID:154595006 {source="DOID:8593"}
xref: SCTID:188745007 {source="MONDO:equivalentTo", source="DOID:8593"}
xref: SCTID:190060004 {source="DOID:8593"}
xref: SCTID:37810007 {source="DOID:8593"}
xref: SCTID:46236001 {source="DOID:8593"}
xref: SCTID:92816008 {source="DOID:8593"}
xref: UMLS:C0023466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9729"}
is_a: MONDO:0004600 {source="DOID:8593", source="MONDO:Redundant"} ! monocytic leukemia
intersection_of: MONDO:0004600 ! monocytic leukemia
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0004615
name: upper gum cancer
def: "A cancer involving a gingiva of upper jaw." [MONDO:patterns/cancer]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of gingiva of upper jaw" EXACT [MONDO:patterns/cancer]
synonym: "gingiva of upper jaw cancer" EXACT [MONDO:patterns/location]
synonym: "malignant gingiva of upper jaw neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of gingiva of upper jaw" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of upper gingiva" EXACT [DOID:8601, MTH:U001011]
synonym: "malignant tumor of upper gum" EXACT [DOID:8601]
synonym: "malignant tumour of upper gingiva" EXACT OMO:0003005 []
synonym: "malignant tumour of upper gum" EXACT OMO:0003005 []
xref: DOID:8601 {source="MONDO:equivalentTo"}
xref: ICD10CM:C03.0 {source="DOID:8601"}
xref: ICD9:143.0 {source="DOID:8601", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363383000 {source="DOID:8601", source="MONDO:equivalentTo"}
xref: SCTID:94114005 {source="DOID:8601"}
xref: UMLS:C0153365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509265"}
is_a: MONDO:0005507 {source="DOID:8601", source="MONDO:Redundant"} ! gingival cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0011601 ! gingiva of upper jaw

[Term]
id: MONDO:0004616
name: herpetic whitlow
def: "A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2." [NCIT:C128402]
synonym: "herpetic felon" EXACT [DOID:8607]
synonym: "Simplexvirus caused paronychia (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus paronychia (disease)" EXACT []
xref: DOID:8607 {source="MONDO:equivalentTo"}
xref: ICD9:054.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8607"}
xref: MEDGEN:509122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128402 {source="MONDO:equivalentTo"}
xref: SCTID:43891009 {source="MONDO:equivalentTo", source="DOID:8607"}
xref: UMLS:C0153042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509122"}
is_a: MONDO:0004609 {source="DOID:8607", source="MONDO:Redundant"} ! herpes simplex infectious disease
is_a: MONDO:0005898 {source="MONDO:Redundant", source="NCIT:C128402"} ! paronychia
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0005898 ! paronychia
intersection_of: MONDO:0100332 NCBITaxon:10294 ! disease has primary infectious agent Simplexvirus

[Term]
id: MONDO:0004617
name: recurrent hypersomnia
def: "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" [MESH:D006970]
synonym: "primary recurrent hypersomnia" EXACT [DOID:8619]
xref: DOID:8619 {source="MONDO:equivalentTo"}
xref: ICD10CM:G47.13 {source="MONDO:equivalentTo", source="DOID:8619"}
xref: ICD9:327.13 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8619"}
xref: MEDGEN:155520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006970 {source="DOID:8619"}
xref: SCTID:426451004 {source="MONDO:equivalentTo", source="DOID:8619"}
xref: UMLS:C0751226 {source="MEDGEN:155520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="DOID:8619", source="ICD10CM:G47.13", source="ICD10CM:G47.13/inferred"} ! sleep-wake disorder

[Term]
id: MONDO:0004618
name: diplegia of upper limb
synonym: "diplegia of upper limbs" EXACT [DOID:862]
synonym: "diplegia, upper" EXACT [DOID:862]
xref: DOID:862 {source="MONDO:equivalentTo"}
xref: ICD10CM:G83.0 {source="DOID:862"}
xref: ICD9:344.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:862"}
xref: MEDGEN:509631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:192968004 {source="DOID:862"}
xref: SCTID:54099005 {source="MONDO:equivalentTo", source="DOID:862"}
xref: UMLS:C0154701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509631"}
is_a: MONDO:0005071 {source="DOID:862"} ! nervous system disorder

[Term]
id: MONDO:0004619
name: measles
def: "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR)." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Measles morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Measles morbillivirus disease or disorder" EXACT []
synonym: "Measles morbillivirus infectious disease" EXACT []
synonym: "morbilli" EXACT [DOID:8622]
synonym: "rubeola" RELATED [GARD:0003434]
synonym: "rubeola infection" EXACT [NCIT:C96406]
xref: DOID:8622 {source="MONDO:equivalentTo"}
xref: EFO:1002025 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B05 {source="DOID:8622", source="MONDO:equivalentTo"}
xref: ICD10CM:B05.9 {source="DOID:8622"}
xref: ICD9:055 {source="DOID:8622"}
xref: MEDGEN:6252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008457 {source="DOID:8622", source="MONDO:equivalentTo"}
xref: NCIT:C96406 {source="DOID:8622", source="MONDO:equivalentTo"}
xref: SCTID:14189004 {source="DOID:8622", source="MONDO:equivalentTo"}
xref: SCTID:154338006 {source="DOID:8622"}
xref: UMLS:C0025007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6252"}
is_a: MONDO:0005108 {source="DOID:8622", source="EFO:1002025", source="MESH:D008457/inferred", source="NCIT:C96406"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11234 ! disease has primary infectious agent Measles morbillivirus
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3434/measles" xsd:anyURI {source="GARD:0003434"}

[Term]
id: MONDO:0004620
name: Hodgkin's lymphoma, lymphocytic depletion
def: "A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)" [NCIT:P378]
subset: gard_rare {source="GARD:19594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:98846"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98846"}
subset: rare
synonym: "adult HDLD" EXACT ABBREVIATION [NCIT:C9125]
synonym: "adult LDHD" EXACT ABBREVIATION [NCIT:C9125]
synonym: "adult lymphocyte depleted classical Hodgkin lymphoma" EXACT [NCIT:C9125]
synonym: "adult lymphocyte depleted Hodgkin lymphoma" EXACT [NCIT:C9125]
synonym: "adult lymphocyte depleted Hodgkin's lymphoma" EXACT [NCIT:C9125]
synonym: "adult lymphocyte depletion Hodgkin's disease" EXACT [NCIT:C9125]
synonym: "Adult lymphocyte-depleted Classic Hodgkin lymphoma" EXACT [NCIT:C9125]
synonym: "adult lymphocyte-depleted classical Hodgkin lymphoma" EXACT [NCIT:C9125]
synonym: "classic Hodgkin lymphoma, lymphocyte-depleted type" EXACT [MONDO:0020330]
synonym: "Hodgkin lymphoma, lymphocyte depletion" EXACT [DOID:8628]
synonym: "Hodgkin's disease, lymphocytic depletion" EXACT [DOID:8628]
synonym: "Hodgkin's disease, lymphocytic depletion NOS" RELATED EXCLUDE [DOID:8628]
synonym: "Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)" EXACT [DOID:8628]
synonym: "Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites" EXACT [DOID:8628]
synonym: "Hodgkin's lymphocytic depletion of unspecified site" EXACT [DOID:8628]
synonym: "lymphocyte-depleted classical Hodgkin lymphoma" EXACT [DOID:8628, NCIT:C9283]
xref: DOID:8628 {source="MONDO:equivalentTo"}
xref: GARD:19594 {source="MONDO:GARD"}
xref: ICD10CM:C81.3 {source="DOID:8628", source="Orphanet:98846", source="Orphanet:98846/e"}
xref: icd11.foundation:1729182645 {source="MONDO:equivalentTo", source="Orphanet:98846", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:201.7 {source="DOID:8628"}
xref: MEDGEN:57760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006689 {source="DOID:8628"}
xref: NCIT:C9125 {source="MONDO:equivalentTo"}
xref: NCIT:C9283 {source="DOID:8628"}
xref: ONCOTREE:LDCHL {source="MONDO:equivalentTo"}
xref: Orphanet:98846 {source="MONDO:equivalentTo"}
xref: SCTID:112687003 {source="DOID:8628"}
xref: SCTID:118610003 {source="DOID:8628", source="MONDO:equivalentTo"}
xref: SCTID:134177009 {source="DOID:8628"}
xref: SCTID:188584004 {source="DOID:8628"}
xref: SCTID:188594009 {source="DOID:8628"}
xref: UMLS:C0152267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57760"}
is_a: MONDO:0004952 {source="DOID:8628", source="NCIT:C9125/inferred", source="ONCOTREE:LDCHL/inferred"} ! Hodgkins lymphoma
is_a: MONDO:0009348 {source="Orphanet:98846"} ! classic Hodgkin lymphoma

[Term]
id: MONDO:0004621
name: upper lip cancer
def: "A malignant neoplasm involving the upper lip." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of upper lip" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of upper lip" EXACT [MONDO:patterns/cancer]
synonym: "malignant upper lip neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "upper lip cancer" EXACT [MONDO:patterns/location]
xref: DOID:8630 {source="MONDO:equivalentTo"}
xref: ICD10CM:C00.0 {source="DOID:8630"}
xref: ICD10CM:C00.3 {source="DOID:8630"}
xref: ICD9:140.0 {source="DOID:8630"}
xref: ICD9:140.3 {source="DOID:8630"}
xref: SCTID:187600004 {source="DOID:8630"}
xref: SCTID:187601000 {source="DOID:8630"}
xref: SCTID:187602007 {source="DOID:8630"}
xref: SCTID:187606005 {source="DOID:8630"}
xref: SCTID:187607001 {source="DOID:8630"}
xref: SCTID:187609003 {source="DOID:8630"}
xref: SCTID:187610008 {source="DOID:8630"}
xref: SCTID:187611007 {source="DOID:8630"}
xref: SCTID:363372009 {source="DOID:8630"}
xref: SCTID:93837005 {source="DOID:8630"}
xref: SCTID:94137004 {source="DOID:8630"}
is_a: MONDO:0006834 {source="DOID:8630", source="MONDO:Redundant"} ! lip cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001834 ! upper lip

[Term]
id: MONDO:0004622
name: chronic intestinal vascular insufficiency
synonym: "chronic mesenteric ischemia" EXACT [DOID:8633, MTH:NOCODE]
synonym: "CMI - chronic mesenteric ischaemia" EXACT [DOID:8633]
xref: DOID:8633 {source="MONDO:equivalentTo"}
xref: ICD9:557.1 {source="DOID:8633", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:90228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111354009 {source="DOID:8633", source="MONDO:equivalentTo"}
xref: SCTID:197005008 {source="DOID:8633"}
xref: SCTID:197008005 {source="DOID:8633"}
xref: SCTID:241154007 {source="DOID:8633"}
xref: SCTID:266448009 {source="DOID:8633"}
xref: UMLS:C0311262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90228"}
is_a: MONDO:0005020 {source="DOID:8633"} ! intestinal disorder
intersection_of: MONDO:0020674 ! vascular insufficiency disorder
intersection_of: disease_has_location UBERON:0000160 ! intestine
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0004623
name: obsolete prostate carcinoma in situ
is_obsolete: true
replaced_by: MONDO:0006234

[Term]
id: MONDO:0004624
name: uvula cancer
def: "A malignant neoplasm involving the palatine uvula." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of palatine uvula" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of palatine uvula" EXACT [MONDO:patterns/cancer]
synonym: "malignant palatine uvula neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of uvula" EXACT [DOID:8635]
synonym: "malignant tumour of uvula" EXACT OMO:0003005 []
synonym: "malignant uvula neoplasm" EXACT [NCIT:C35177]
synonym: "malignant uvula tumor" EXACT [NCIT:C35177]
synonym: "malignant uvula tumour" EXACT OMO:0003005 []
synonym: "malignant uvular neoplasm" EXACT [NCIT:C35177]
synonym: "malignant uvular tumor" EXACT [DOID:8635, NCIT:C35177]
synonym: "malignant uvular tumour" EXACT OMO:0003005 []
synonym: "palatine uvula cancer" EXACT [MONDO:patterns/location]
xref: DOID:8635 {source="MONDO:equivalentTo"}
xref: ICD10CM:C05.2 {source="DOID:8635"}
xref: ICD9:145.4 {source="DOID:8635", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35177 {source="DOID:8635", source="MONDO:equivalentTo"}
xref: SCTID:363389001 {source="DOID:8635", source="MONDO:equivalentTo"}
xref: SCTID:94129007 {source="DOID:8635"}
xref: UMLS:C0153377 {source="MEDGEN:102265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004611 {source="DOID:8635", source="MONDO:Redundant", source="NCIT:C35177"} ! soft palate cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001734 ! palatine uvula

[Term]
id: MONDO:0004625
name: phlebitis
def: "Inflammation of a vein." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammation of vein" EXACT []
synonym: "vein inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:864 {source="MONDO:equivalentTo"}
xref: EFO:1001395 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I80 {source="DOID:864"}
xref: MEDGEN:18425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010689 {source="DOID:864", source="MONDO:equivalentTo"}
xref: NCIT:C38003 {source="DOID:864", source="MONDO:equivalentTo"}
xref: SCTID:195432009 {source="DOID:864"}
xref: SCTID:61599003 {source="DOID:864", source="MONDO:equivalentTo"}
xref: UMLS:C0031542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18425"}
is_a: MONDO:0004634 {source="DOID:864", source="MONDO:Redundant"} ! vein disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001638 ! vein

[Term]
id: MONDO:0004626
name: obsolete Hodgkin's paragranuloma
synonym: "Hodgkin paragranuloma" EXACT [DOID:8642]
xref: DOID:8642 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C26956 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3360" xsd:anyURI
is_obsolete: true
consider: MONDO:0044778

[Term]
id: MONDO:0004627
name: duodenitis
def: "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "duodenitis" EXACT []
synonym: "duodenum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "hemorrhagic duodenitis" NARROW [DOID:8643, MTH:NOCODE]
synonym: "inflammation of duodenum" EXACT []
xref: DOID:8643 {source="MONDO:equivalentTo"}
xref: ICD10CM:K29.8 {source="DOID:8643", source="MONDO:equivalentTo"}
xref: ICD9:535.6 {source="DOID:8643"}
xref: ICD9:535.60 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004382 {source="DOID:8643", source="MONDO:equivalentTo"}
xref: NCIT:C94409 {source="DOID:8643", source="MONDO:equivalentTo"}
xref: SCTID:155715004 {source="DOID:8643"}
xref: SCTID:72007001 {source="DOID:8643", source="MONDO:equivalentTo"}
xref: UMLS:C0013298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4419"}
is_a: MONDO:0002866 {source="MESH:D004382", source="MONDO:Redundant"} ! duodenal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002114 ! duodenum
relationship: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0004628
name: gastroduodenitis
synonym: "gastritis and duodenitis" RELATED []
synonym: "gastroduodenitis" EXACT []
synonym: "peptic ulcer gastroduodenitis" RELATED [DOID:8644]
xref: DOID:8644 {source="MONDO:equivalentTo"}
xref: ICD9:535.4 {source="DOID:8644"}
xref: ICD9:535.50 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:540445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196731005 {source="MONDO:equivalentTo"}
xref: SCTID:196737009 {source="DOID:8644"}
xref: SCTID:196742001 {source="DOID:8644"}
xref: UMLS:C0267166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540445"}
is_a: MONDO:0002269 {source="MONDO:Redundant"} ! gastroenteritis
is_a: MONDO:0004966 {source="MONDO:Redundant"} ! gastritis
intersection_of: MONDO:0004247 ! peptic ulcer disease
intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach
intersection_of: disease_has_inflammation_site UBERON:0002114 ! duodenum

[Term]
id: MONDO:0004629
name: subacute delirium
xref: DOID:8645 {source="MONDO:equivalentTo"}
xref: ICD9:293.1 {source="DOID:8645", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003693 {source="DOID:8645"}
xref: SCTID:191507002 {source="DOID:8645", source="MONDO:equivalentTo"}
xref: SCTID:191513006 {source="DOID:8645"}
xref: UMLS:C0154333 {source="MEDGEN:56340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0045057 {source="https://orcid.org/0000-0001-5208-3432"} ! delirium
relationship: excluded_subClassOf MONDO:0004630 {source="DOID:8645", source="https://orcid.org/0000-0001-5208-3432"} ! substance-induced psychosis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004630
name: substance-induced psychosis
subset: otar {source="MONDO:OTAR"}
xref: DOID:8646 {source="MONDO:equivalentTo"}
xref: ICD9:293.89 {source="DOID:8646"}
xref: MEDGEN:18746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0033941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18746"}
is_a: MONDO:0005485 {source="DOID:8646", source="https://orcid.org/0000-0002-6601-2165"} ! psychotic disorder

[Term]
id: MONDO:0004631
name: tongue cancer
def: "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." [NCIT:C9345]
synonym: "cancer of tongue" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of anterior 2/3 of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of anterior two-thirds of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of anterior two-thirds of tongue, part unspecified" NARROW [DOID:8649]
synonym: "malignant neoplasm of base of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of border of tongue" NARROW [DOID:8649, MTH:U001371]
synonym: "malignant neoplasm of dorsal surface of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of dorsal tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of dorsal tongue NOS" NARROW [DOID:8649]
synonym: "malignant neoplasm of dorsum of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of fixed part of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of fixed part of tongue NOS" NARROW [DOID:8649]
synonym: "malignant neoplasm of junctional zone of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of lingual tonsil" RELATED DUBIOUS [DOID:8649]
synonym: "malignant neoplasm of mobile part of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of mobile part of tongue NOS" NARROW [DOID:8649]
synonym: "malignant neoplasm of other sites of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of the tongue" NARROW [NCIT:C9345]
synonym: "malignant neoplasm of tip and lateral border of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of tip and/or lateral border of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of tongue" EXACT [DOID:8649, ICD9CM:141, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9345]
synonym: "malignant neoplasm of tongue NOS" NARROW [DOID:8649]
synonym: "malignant neoplasm of tongue, NOS" NARROW [DOID:8649]
synonym: "malignant neoplasm of tongue, tip and lateral border" NARROW [DOID:8649]
synonym: "malignant neoplasm of ventral surface of tongue" NARROW [DOID:8649]
synonym: "malignant neoplasm of ventral tongue surface" NARROW [DOID:8649]
synonym: "malignant tongue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9345]
synonym: "malignant tongue tumor" EXACT [NCIT:C9345]
synonym: "malignant tongue tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of anterior two-thirds of tongue" NARROW [DOID:8649]
synonym: "malignant tumor of base of tongue" NARROW [DOID:8649]
synonym: "malignant tumor of lingual tonsil" NARROW DUBIOUS [DOID:8649, MTH:U001010]
synonym: "malignant tumor of lingual tonsil (disorder)" RELATED DUBIOUS [DOID:8649]
synonym: "malignant tumor of mobile part of tongue" NARROW [DOID:8649]
synonym: "malignant tumor of posterior tongue" NARROW [DOID:8649, NCIT:C3524]
synonym: "malignant tumor of the tongue" EXACT [NCIT:C9345]
synonym: "malignant tumor of tongue" EXACT [NCIT:C9345]
synonym: "malignant tumour of anterior two-thirds of tongue" NARROW OMO:0003005 []
synonym: "malignant tumour of base of tongue" NARROW OMO:0003005 []
synonym: "malignant tumour of lingual tonsil" NARROW OMO:0003005 []
synonym: "malignant tumour of lingual tonsil (disorder)" RELATED OMO:0003005 []
synonym: "malignant tumour of mobile part of tongue" NARROW OMO:0003005 []
synonym: "malignant tumour of posterior tongue" NARROW OMO:0003005 []
synonym: "malignant tumour of the tongue" EXACT OMO:0003005 []
synonym: "malignant tumour of tongue" EXACT OMO:0003005 []
synonym: "tongue cancer" EXACT [MONDO:patterns/location]
synonym: "tongue carcinoma" RELATED [GARD:0007779]
synonym: "tongue neoplasm malignant" EXACT [DOID:8649]
synonym: "tongue neoplasm malignant stage unspecified" NARROW [DOID:8649, NCIT:C9345]
synonym: "tongue neoplasm, malignant" EXACT [NCIT:C9345]
xref: DOID:8649 {source="MONDO:equivalentTo"}
xref: ICD10CM:C01 {source="DOID:8649"}
xref: ICD10CM:C02.0 {source="DOID:8649"}
xref: ICD10CM:C02.1 {source="DOID:8649"}
xref: ICD10CM:C02.2 {source="DOID:8649"}
xref: ICD10CM:C02.4 {source="DOID:8649"}
xref: ICD10CM:C02.9 {source="DOID:8649"}
xref: ICD9:141 {source="DOID:8649"}
xref: ICD9:141.0 {source="DOID:8649"}
xref: ICD9:141.1 {source="DOID:8649"}
xref: ICD9:141.2 {source="DOID:8649"}
xref: ICD9:141.3 {source="DOID:8649"}
xref: ICD9:141.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:141.5 {source="DOID:8649"}
xref: ICD9:141.6 {source="DOID:8649"}
xref: ICD9:141.9 {source="DOID:8649"}
xref: MEDGEN:102262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014062 {source="MONDO:equivalentTo", source="DOID:8649"}
xref: NCIT:C3524 {source="DOID:8649"}
xref: NCIT:C9345 {source="MONDO:equivalentTo", source="DOID:8649"}
xref: SCTID:187632004 {source="DOID:8649"}
xref: SCTID:187633009 {source="DOID:8649"}
xref: SCTID:187636001 {source="DOID:8649"}
xref: SCTID:187637005 {source="DOID:8649"}
xref: SCTID:187638000 {source="DOID:8649"}
xref: SCTID:187642002 {source="DOID:8649"}
xref: SCTID:187644001 {source="DOID:8649"}
xref: SCTID:187646004 {source="DOID:8649"}
xref: SCTID:363360003 {source="MONDO:equivalentTo"}
xref: SCTID:363375006 {source="DOID:8649"}
xref: SCTID:363376007 {source="DOID:8649"}
xref: SCTID:363377003 {source="DOID:8649"}
xref: SCTID:371974006 {source="DOID:8649"}
xref: SCTID:93687001 {source="DOID:8649"}
xref: SCTID:93773005 {source="DOID:8649"}
xref: SCTID:93848003 {source="DOID:8649"}
xref: SCTID:93868009 {source="DOID:8649"}
xref: SCTID:94100005 {source="DOID:8649"}
xref: SCTID:94101009 {source="DOID:8649"}
xref: SCTID:94134006 {source="DOID:8649"}
xref: UMLS:C0153349 {source="MEDGEN:102262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001165 {source="DOID:8649", source="MESH:D014062", source="MONDO:Redundant"} ! tongue disorder
is_a: MONDO:0005515 {source="DOID:8649", source="NCIT:C9345"} ! oral cavity cancer
is_a: MONDO:0021240 {source="MONDO:Redundant", source="NCIT:C9345"} ! tongue neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001723 ! tongue
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7779/tongue-cancer" xsd:anyURI {source="GARD:0007779"}

[Term]
id: MONDO:0004632
name: obsolete Hodgkin's granuloma
def: "OBSOLETE. An obsolete term referring to Hodgkin lymphoma." [NCIT:C6914]
synonym: "Hodgkin granuloma" EXACT [DOID:8651]
synonym: "Hodgkin's granuloma" EXACT [DOID:8651, NCIT:C6914]
synonym: "Hodgkin's granuloma of unspecified site" EXACT [DOID:8651]
synonym: "Hodgkin's granuloma, unspecified site, extranodal and solid organ sites" EXACT [DOID:8651]
xref: DOID:8651 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:C81 {source="DOID:8651"}
xref: ICD10CM:C81.0 {source="DOID:8651"}
xref: ICD10CM:C81.2 {source="DOID:8651"}
xref: ICD10CM:C81.3 {source="DOID:8651"}
xref: ICD10CM:C81.4 {source="DOID:8651"}
xref: ICD10CM:C81.9 {source="DOID:8651"}
xref: ICD9:201 {source="DOID:8651"}
xref: ICD9:201.0 {source="DOID:8651"}
xref: ICD9:201.1 {source="DOID:8651"}
xref: ICD9:201.2 {source="DOID:8651"}
xref: ICD9:201.4 {source="DOID:8651"}
xref: ICD9:201.6 {source="DOID:8651"}
xref: ICD9:201.7 {source="DOID:8651"}
xref: ICD9:201.9 {source="DOID:8651"}
xref: ICDO:9661/3 {source="NCIT:C6914"}
xref: MESH:D006689 {source="DOID:8651"}
xref: NCIT:C26956 {source="DOID:8651", source="MONDO:directSiblingOf"}
xref: NCIT:C3517 {source="DOID:8651", source="MONDO:directSiblingOf"}
xref: NCIT:C6913 {source="DOID:8651", source="MONDO:directSiblingOf"}
xref: NCIT:C6914 {source="MONDO:obsoleteEquivalent", source="DOID:8651"}
xref: NCIT:C7258 {source="DOID:8651"}
xref: NCIT:C7702 {source="DOID:8651"}
xref: NCIT:C9283 {source="DOID:8651"}
xref: NCIT:C9357 {source="DOID:8651"}
xref: SCTID:112687003 {source="DOID:8651"}
xref: SCTID:118599009 {source="DOID:8651"}
xref: SCTID:118602004 {source="MONDO:obsoleteEquivalent", source="DOID:8651"}
xref: SCTID:118605002 {source="DOID:8651"}
xref: SCTID:118606001 {source="DOID:8651"}
xref: SCTID:118607005 {source="DOID:8651", source="MONDO:directSiblingOf"}
xref: SCTID:118609008 {source="DOID:8651", source="MONDO:directSiblingOf"}
xref: SCTID:118610003 {source="DOID:8651", source="MONDO:directSiblingOf"}
xref: SCTID:128799007 {source="DOID:8651"}
xref: SCTID:134177009 {source="DOID:8651"}
xref: SCTID:14537002 {source="DOID:8651"}
xref: SCTID:154582001 {source="DOID:8651"}
xref: SCTID:188521005 {source="DOID:8651"}
xref: SCTID:188522003 {source="DOID:8651"}
xref: SCTID:188532005 {source="DOID:8651"}
xref: SCTID:188533000 {source="DOID:8651"}
xref: SCTID:188542007 {source="DOID:8651"}
xref: SCTID:188543002 {source="DOID:8651"}
xref: SCTID:188552006 {source="DOID:8651"}
xref: SCTID:188553001 {source="DOID:8651"}
xref: SCTID:188563009 {source="DOID:8651"}
xref: SCTID:188574000 {source="DOID:8651"}
xref: SCTID:188583005 {source="DOID:8651"}
xref: SCTID:188584004 {source="DOID:8651"}
xref: SCTID:188594009 {source="DOID:8651"}
xref: SCTID:188595005 {source="DOID:8651"}
xref: SCTID:188596006 {source="DOID:8651"}
xref: SCTID:188605006 {source="DOID:8651"}
xref: SCTID:189987006 {source="DOID:8651"}
xref: SCTID:189988001 {source="DOID:8651"}
xref: SCTID:189991001 {source="DOID:8651"}
xref: SCTID:189992008 {source="DOID:8651"}
xref: SCTID:269509006 {source="DOID:8651"}
xref: SCTID:309831004 {source="DOID:8651"}
xref: SCTID:41529000 {source="DOID:8651"}
xref: SCTID:46923007 {source="DOID:8651"}
xref: SCTID:52337003 {source="DOID:8651"}
xref: SCTID:59668005 {source="DOID:8651"}
xref: SCTID:70600005 {source="DOID:8651"}
xref: SCTID:74189002 {source="DOID:8651"}
is_obsolete: true
replaced_by: MONDO:0004952

[Term]
id: MONDO:0004633
name: Hodgkin's lymphoma, mixed cellularity
def: "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" [NCIT:C3517]
subset: gard_rare {source="GARD:19592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:98844"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98844"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic Hodgkin lymphoma, mixed cellularity type" EXACT [MONDO:0020328]
synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [DOID:8654]
synonym: "Hodgkin's disease mixed cellularity" EXACT [NCIT:C3517]
synonym: "Hodgkin's disease, mixed cellularity" RELATED [DOID:8654]
synonym: "Hodgkin's disease, mixed cellularity of unspecified site" EXACT [DOID:8654]
synonym: "Hodgkin's lymphoma mixed cellularity" EXACT [NCIT:C3517]
synonym: "MCCHL" EXACT ABBREVIATION [NCIT:C3517]
synonym: "MCHL" EXACT ABBREVIATION [DOID:8654, NCIT:C3517]
synonym: "Mixed cellularity Classic Hodgkin lymphoma" EXACT [NCIT:C3517]
synonym: "mixed cellularity classical Hodgkin lymphoma" EXACT [NCIT:C3517]
synonym: "mixed cellularity Hodgkin lymphoma" EXACT [NCIT:C3517]
synonym: "mixed cellularity Hodgkin's disease" EXACT [NCIT:C3517]
synonym: "mixed cellularity Hodgkin's lymphoma" EXACT [NCIT:C3517]
xref: DOID:8654 {source="MONDO:equivalentTo"}
xref: EFO:1002031 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19592 {source="MONDO:GARD"}
xref: ICD10CM:C81.2 {source="DOID:8654", source="Orphanet:98844", source="Orphanet:98844/e"}
xref: icd11.foundation:39515681 {source="Orphanet:98844", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:201.6 {source="DOID:8654"}
xref: ICDO:9652/3 {source="NCIT:C3517"}
xref: MEDGEN:57521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006689 {source="DOID:8654"}
xref: NCIT:C3517 {source="DOID:8654", source="MONDO:equivalentTo"}
xref: ONCOTREE:MCCHL {source="MONDO:equivalentTo"}
xref: Orphanet:98844 {source="MONDO:equivalentTo"}
xref: SCTID:118609008 {source="DOID:8654", source="MONDO:equivalentTo"}
xref: SCTID:188574000 {source="DOID:8654"}
xref: SCTID:188583005 {source="DOID:8654"}
xref: SCTID:41529000 {source="DOID:8654"}
xref: UMLS:C0152266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57521"}
is_a: MONDO:0004952 {source="DOID:8654", source="MONDO:0004633/inferred", source="MONDO:Redundant", source="NCIT:C3517/inferred", source="ONCOTREE:MCCHL/inferred"} ! Hodgkins lymphoma
is_a: MONDO:0009348 {source="NCIT:C3517", source="ONCOTREE:MCCHL", source="Orphanet:98844"} ! classic Hodgkin lymphoma

[Term]
id: MONDO:0004634
name: vein disorder
def: "A disease involving the vein." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of vein" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vein" EXACT []
synonym: "disorder of vein" EXACT [MONDO:patterns/location_top]
synonym: "vein disease" EXACT [MONDO:patterns/location]
synonym: "vein disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:866 {source="MONDO:equivalentTo"}
xref: ICD10CM:I80-I89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I82 {source="DOID:866"}
xref: ICD9:453 {source="DOID:866"}
xref: MEDGEN:115992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35279 {source="MONDO:equivalentTo"}
xref: SCTID:195435006 {source="DOID:866"}
xref: SCTID:90507008 {source="MONDO:equivalentTo"}
xref: UMLS:C0235522 {source="MEDGEN:115992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="DOID:866", source="MONDO:Redundant"} ! vascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001638 ! vein

[Term]
id: MONDO:0004635
name: postcricoid region cancer
def: "A primary or metastatic malignant neoplasm that affects the postcricoid region." [NCIT:P378]
synonym: "malignant neoplasm of postcricoid area" EXACT [NCIT:C9323]
synonym: "malignant neoplasm of the postcricoid area" EXACT [NCIT:C9323]
synonym: "malignant postcricoid neoplasm" EXACT [NCIT:C9323]
synonym: "malignant postcricoid tumor" EXACT [DOID:8660, NCIT:C9323]
synonym: "malignant postcricoid tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of pharyngoesophageal junction" EXACT [DOID:8660]
synonym: "malignant tumor of postcricoid area" EXACT [NCIT:C9323]
synonym: "malignant tumor of the postcricoid area" EXACT [NCIT:C9323]
synonym: "malignant tumour of pharyngoesophageal junction" EXACT OMO:0003005 []
synonym: "malignant tumour of postcricoid area" EXACT OMO:0003005 []
synonym: "malignant tumour of the postcricoid area" EXACT OMO:0003005 []
xref: DOID:8660 {source="MONDO:equivalentTo"}
xref: ICD10CM:C13.0 {source="DOID:8660"}
xref: ICD9:148.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8660"}
xref: MEDGEN:141673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9323 {source="MONDO:equivalentTo", source="DOID:8660"}
xref: SCTID:363400004 {source="MONDO:equivalentTo", source="DOID:8660"}
xref: SCTID:93967000 {source="DOID:8660"}
xref: UMLS:C0496769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141673"}
is_a: MONDO:0005806 {source="DOID:8660", source="NCIT:C9323"} ! hypopharynx cancer

[Term]
id: MONDO:0004636
name: lip carcinoma in situ
def: "A in situ carcinoma that involves the lip." [MONDO:patterns/location]
synonym: "carcinoma in situ of lip" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the Lip" EXACT [NCIT:C4588]
synonym: "lip in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 cancer of Lip" EXACT [NCIT:C4588]
synonym: "stage 0 cancer of the Lip" EXACT [NCIT:C4588]
synonym: "stage 0 carcinoma of Lip" EXACT [NCIT:C4588]
synonym: "stage 0 carcinoma of the Lip" EXACT [NCIT:C4588]
synonym: "stage 0 Lip cancer" EXACT [NCIT:C4588]
synonym: "stage 0 Lip cancer aJCC v6" EXACT [NCIT:C4588]
synonym: "stage 0 Lip cancer aJCC v6 and v7" EXACT [NCIT:C4588]
synonym: "stage 0 Lip cancer aJCC v7" EXACT [NCIT:C4588]
synonym: "stage 0 lip carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:8661 {source="MONDO:equivalentTo"}
xref: ICD10CM:D00.0 {source="DOID:8661"}
xref: ICD9:230.0 {source="DOID:8661"}
xref: MEDGEN:83849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4588 {source="MONDO:equivalentTo"}
xref: SCTID:189210009 {source="DOID:8661"}
xref: SCTID:189213006 {source="DOID:8661"}
xref: SCTID:271325000 {source="DOID:8661"}
xref: SCTID:92643000 {source="MONDO:equivalentTo"}
xref: UMLS:C0347082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83849"}
is_a: MONDO:0006834 {source="MONDO:Redundant", source="NCIT:C4588/inferred"} ! lip cancer
is_a: MONDO:0021333 {source="MONDO:Redundant", source="NCIT:C4588"} ! carcinoma of lip
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001833 ! lip

[Term]
id: MONDO:0004637
name: aryepiglottic fold cancer
def: "A malignant neoplasm involving the aryepiglottic fold." [https://orcid.org/0000-0002-6601-2165]
synonym: "aryepiglottic fold cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of aryepiglottic fold" EXACT [MONDO:patterns/cancer]
synonym: "malignant aryepiglottic fold neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of aryepiglottic fold" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold" EXACT [DOID:8663]
synonym: "malignant tumor aryepiglottic fold - hypopharyngeal aspect" EXACT [DOID:8663]
synonym: "malignant tumour aryepiglottic fold - hypopharyngeal aspect" EXACT OMO:0003005 []
xref: DOID:8663 {source="MONDO:equivalentTo"}
xref: ICD10CM:C13.1 {source="MONDO:equivalentTo", source="DOID:8663"}
xref: ICD9:148.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8663"}
xref: MEDGEN:509278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187708004 {source="MONDO:equivalentTo", source="DOID:8663"}
xref: SCTID:93829002 {source="DOID:8663"}
xref: UMLS:C0153401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509278"}
is_a: MONDO:0002352 {source="MONDO:Redundant"} ! larynx cancer
is_a: MONDO:0005806 {source="DOID:8663", source="ICD10CM:C13.1"} ! hypopharynx cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0014385 ! aryepiglottic fold

[Term]
id: MONDO:0004638
name: lymphosarcoma
def: "An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes." [NCIT:C26919]
subset: gard_rare {source="GARD:6946", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diffuse lymphoma" EXACT [DOID:8675]
synonym: "lymphosarcoma" EXACT [NCIT:C26919]
synonym: "malignant lymphoma" RELATED EXCLUDE [DOID:8675]
synonym: "malignant lymphoma (category)" RELATED [DOID:8675]
xref: DOID:8675 {source="MONDO:equivalentObsolete"}
xref: GARD:6946 {source="MONDO:GARD"}
xref: ICD10CM:C85.9 {source="DOID:8675"}
xref: ICD9:200.0 {source="DOID:8675"}
xref: ICD9:200.1 {source="DOID:8675"}
xref: ICD9:200.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:200.7 {source="DOID:8675"}
xref: MEDGEN:811370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008228 {source="DOID:8675"}
xref: NCIT:C26919 {source="MONDO:equivalentTo", source="DOID:8675"}
xref: NCIT:C27824 {source="MONDO:directSiblingOf", source="DOID:8675"}
xref: NCIT:C3210 {source="DOID:8675"}
xref: NCIT:C3211 {source="DOID:8675"}
xref: NCIT:C3458 {source="DOID:8675"}
xref: NCIT:C3459 {source="DOID:8675"}
xref: NCIT:C3462 {source="DOID:8675"}
xref: NCIT:C3463 {source="DOID:8675"}
xref: SCTID:109964000 {source="DOID:8675"}
xref: SCTID:118601006 {source="MONDO:directSiblingOf", source="DOID:8675"}
xref: SCTID:118604003 {source="DOID:8675"}
xref: SCTID:128929007 {source="DOID:8675"}
xref: SCTID:134176000 {source="DOID:8675"}
xref: SCTID:154579006 {source="DOID:8675"}
xref: SCTID:154580009 {source="DOID:8675"}
xref: SCTID:154583006 {source="DOID:8675"}
xref: SCTID:188488003 {source="DOID:8675"}
xref: SCTID:188497004 {source="DOID:8675"}
xref: SCTID:188498009 {source="MONDO:equivalentTo", source="DOID:8675"}
xref: SCTID:188508003 {source="DOID:8675"}
xref: SCTID:188675007 {source="DOID:8675"}
xref: SCTID:188676008 {source="DOID:8675"}
xref: SCTID:189964003 {source="DOID:8675"}
xref: SCTID:189965002 {source="DOID:8675"}
xref: SCTID:189982000 {source="DOID:8675"}
xref: SCTID:189983005 {source="DOID:8675"}
xref: SCTID:189986002 {source="DOID:8675"}
xref: SCTID:190012002 {source="DOID:8675"}
xref: SCTID:190168009 {source="DOID:8675"}
xref: SCTID:1929004 {source="DOID:8675"}
xref: SCTID:269628007 {source="DOID:8675"}
xref: SCTID:271385002 {source="DOID:8675"}
xref: SCTID:373168002 {source="MONDO:directSiblingOf", source="DOID:8675"}
xref: SCTID:40152000 {source="DOID:8675"}
xref: SCTID:63086004 {source="DOID:8675"}
xref: SCTID:67824002 {source="DOID:8675"}
xref: UMLS:C3714542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811370"}
is_a: MONDO:0000612 {source="DOID:8675"} ! lymphatic system cancer
is_a: MONDO:0005062 {source="MESH:D008228"} ! lymphoma
is_a: MONDO:0018908 ! non-Hodgkin lymphoma
relationship: excluded_subClassOf MONDO:0005089 {source="DOID:8675", source="https://orcid.org/0000-0001-5208-3432"} ! sarcoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma" xsd:anyURI {source="GARD:0006946"}

[Term]
id: MONDO:0004639
name: perinatal necrotizing enterocolitis
def: "A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract." [NCIT:C84915]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "enterocolitis necrotizing" BROAD [DOID:8677, MTH:NOCODE]
synonym: "enterocolitis, necrotizing" RELATED [GARD:0009767]
synonym: "necrotizing enterocolitis" BROAD [DOID:8677]
synonym: "necrotizing enterocolitis in fetus or newborn" EXACT [DOID:8677]
synonym: "necrotizing enterocolitis in foetus or newborn" EXACT OMO:0003005 []
synonym: "perinatal necrotising enterocolitis" EXACT [DOID:8677]
synonym: "pseudomembranous enterocolitis in newborn" EXACT [DOID:8677]
xref: DOID:8677 {source="MONDO:equivalentTo"}
xref: MEDGEN:906305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020345 {source="DOID:8677"}
xref: NCIT:C84915 {source="DOID:8677"}
xref: SCTID:2707005 {source="DOID:8677"}
xref: SCTID:397729009 {source="DOID:8677", source="MONDO:equivalentTo"}
xref: SCTID:51180003 {source="DOID:8677"}
xref: UMLS:C4082937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906305"}
is_a: MONDO:0004335 {source="DOID:8677", source="MONDO:Redundant"} ! digestive system disorder
is_a: MONDO:0005313 {source="https://orcid.org/0000-0001-5208-3432"} ! necrotizing enterocolitis

[Term]
id: MONDO:0004640
name: alcoholic gastritis
def: "Inflammation of the stomach resulting from alcohol ingestion." [NCIT:C26977]
subset: otar {source="MONDO:OTAR"}
synonym: "alcoholic gastritis" EXACT [DOID:8680, NCIT:C26977]
synonym: "alcoholic gastritis, with haemorrhage" EXACT OMO:0003005 []
synonym: "alcoholic gastritis, with hemorrhage" EXACT [DOID:8680]
synonym: "alcoholic gastritis, without mention of haemorrhage" EXACT OMO:0003005 []
synonym: "alcoholic gastritis, without mention of hemorrhage" EXACT [DOID:8680]
xref: DOID:8680 {source="MONDO:equivalentTo"}
xref: ICD10CM:K29.2 {source="MONDO:equivalentTo", source="DOID:8680"}
xref: ICD9:535.3 {source="DOID:8680"}
xref: ICD9:535.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26977 {source="MONDO:equivalentTo", source="DOID:8680"}
xref: SCTID:155714000 {source="DOID:8680"}
xref: SCTID:2043009 {source="MONDO:equivalentTo", source="DOID:8680"}
xref: UMLS:C0156076 {source="MONDO:equivalentTo", source="MEDGEN:102345", source="MONDO:MEDGEN"}
is_a: MONDO:0004966 {source="DOID:8680", source="MONDO:Redundant", source="NCIT:C26977"} ! gastritis
intersection_of: MONDO:0004966 ! gastritis
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0004641
name: skin carcinoma in situ
def: "A in situ carcinoma that involves the zone of skin." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma in situ of skin" EXACT [DOID:8687, ICD9CM:232, NCIT:C3640]
synonym: "carcinoma in situ of the skin" EXACT [NCIT:C3640]
synonym: "carcinoma in situ of zone of skin" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma of skin stage 0" EXACT [NCIT:C3640]
synonym: "carcinoma of the skin stage 0" EXACT [NCIT:C3640]
synonym: "cutaneous carcinoma in situ" EXACT [DOID:8687, NCIT:C3640]
synonym: "nonmelanoma carcinoma in situ" EXACT [NCIT:C3640]
synonym: "skin cancer stage 0" EXACT [NCIT:C3640]
synonym: "skin carcinoma in situ" EXACT [NCIT:C3640]
synonym: "skin carcinoma stage 0" EXACT [NCIT:C3640]
synonym: "stage 0 nonmelanoma skin carcinoma in situ" EXACT [NCIT:C3640]
synonym: "stage 0 skin cancer" EXACT [NCIT:C3640]
synonym: "stage 0 skin cancer aJCC v6" EXACT [NCIT:C3640]
synonym: "stage 0 skin cancer aJCC v7" EXACT [NCIT:C3640]
synonym: "stage 0 skin carcinoma" EXACT [NCIT:C3640]
synonym: "stage 0 zone of skin carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "zone of skin carcinoma in situ" EXACT []
synonym: "zone of skin in situ carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:8687 {source="MONDO:equivalentTo"}
xref: ICD10CM:D04 {source="DOID:8687", source="MONDO:equivalentTo"}
xref: ICD10CM:D04.0 {source="DOID:8687"}
xref: ICD10CM:D04.2 {source="DOID:8687"}
xref: ICD10CM:D04.3 {source="DOID:8687"}
xref: ICD10CM:D04.4 {source="DOID:8687"}
xref: ICD10CM:D04.6 {source="DOID:8687"}
xref: ICD10CM:D04.7 {source="DOID:8687"}
xref: ICD10CM:D04.9 {source="DOID:8687"}
xref: ICD9:232 {source="DOID:8687"}
xref: ICD9:232.0 {source="DOID:8687"}
xref: ICD9:232.2 {source="DOID:8687"}
xref: ICD9:232.3 {source="DOID:8687"}
xref: ICD9:232.4 {source="DOID:8687"}
xref: ICD9:232.5 {source="DOID:8687"}
xref: ICD9:232.6 {source="DOID:8687"}
xref: ICD9:232.7 {source="DOID:8687"}
xref: ICD9:232.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:232.9 {source="DOID:8687", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3640 {source="DOID:8687", source="MONDO:equivalentTo"}
xref: SCTID:189276007 {source="DOID:8687"}
xref: SCTID:189278008 {source="DOID:8687"}
xref: SCTID:189282005 {source="DOID:8687"}
xref: SCTID:189290005 {source="DOID:8687"}
xref: SCTID:189291009 {source="DOID:8687"}
xref: SCTID:189294001 {source="DOID:8687"}
xref: SCTID:189295000 {source="DOID:8687"}
xref: SCTID:189334002 {source="DOID:8687"}
xref: SCTID:190179004 {source="DOID:8687"}
xref: SCTID:190181002 {source="DOID:8687"}
xref: SCTID:255144005 {source="DOID:8687"}
xref: SCTID:92734000 {source="DOID:8687"}
xref: SCTID:92735004 {source="DOID:8687"}
xref: SCTID:92747005 {source="DOID:8687"}
xref: SCTID:92749008 {source="DOID:8687", source="MONDO:equivalentTo"}
xref: UMLS:C0154073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102308"}
is_a: MONDO:0002656 {source="MONDO:Redundant", source="NCIT:C3640"} ! skin carcinoma
is_a: MONDO:0004647 {source="DOID:8687", source="MONDO:Redundant", source="NCIT:C3640"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0004642
name: tonsillar pillar cancer
def: "A cancer that involves the tonsillar pillar." [MONDO:patterns/location]
synonym: "malignant neoplasm of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location]
synonym: "malignant neoplasm of tonsillar pillars, posterior" EXACT [DOID:8688, MONDO:patterns/location]
synonym: "malignant tumor of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location]
synonym: "malignant tumour of tonsillar pillar" EXACT OMO:0003005 []
xref: DOID:8688 {source="MONDO:equivalentTo"}
xref: ICD10CM:C09.1 {source="DOID:8688", source="MONDO:equivalentTo"}
xref: ICD9:146.2 {source="DOID:8688", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187675005 {source="DOID:8688", source="MONDO:equivalentTo"}
xref: SCTID:187676006 {source="DOID:8688"}
xref: SCTID:187679004 {source="DOID:8688"}
xref: SCTID:94103007 {source="DOID:8688"}
xref: UMLS:C0153385 {source="MEDGEN:509270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006998 {source="ICD10CM:C09.1"} ! tonsil cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0036274 ! tonsillar pillar
relationship: excluded_subClassOf MONDO:0004608 {source="DOID:8688", source="https://orcid.org/0000-0001-5208-3432"} ! oropharynx cancer

[Term]
id: MONDO:0004643
name: myeloid leukemia
def: "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." [NCIT:C3172]
subset: gard_rare {source="GARD:8226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukaemia granulocytic" EXACT OMO:0003005 []
synonym: "leukaemia myelogenous" EXACT OMO:0003005 []
synonym: "leukaemia myeloid" EXACT OMO:0003005 []
synonym: "leukemia granulocytic" EXACT [NCIT:C3172]
synonym: "leukemia myelogenous" EXACT [DOID:8692, MTH:NOCODE]
synonym: "leukemia myeloid" EXACT [NCIT:C3172]
synonym: "leukemia, granulocytic, malignant" EXACT [NCIT:C3172]
synonym: "myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "myelocytic leukemia" EXACT [NCIT:C3172]
synonym: "myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "myelogenous leukemia" EXACT [NCIT:C3172]
synonym: "myeloid granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "myeloid granulocytic leukemia" EXACT [DOID:8692]
synonym: "myeloid leukemia" EXACT [NCIT:C3172]
synonym: "non-lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "non-lymphoblastic leukemia" EXACT [NCIT:C3172]
synonym: "non-lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "non-lymphocytic leukemia" EXACT [DOID:8692, NCIT:C3172]
xref: DOID:8692 {source="MONDO:equivalentTo"}
xref: GARD:8226 {source="MONDO:GARD"}
xref: ICD10CM:C92 {source="DOID:8692"}
xref: ICD10CM:C92.9 {source="DOID:8692"}
xref: ICD10CM:C92.90 {source="DOID:8692"}
xref: ICD9:205 {source="DOID:8692"}
xref: ICD9:205.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:205.9 {source="DOID:8692"}
xref: ICD9:205.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9860/3 {source="NCIT:C3172"}
xref: MEDGEN:7320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007951 {source="MONDO:equivalentTo", source="DOID:8692"}
xref: NCIT:C3172 {source="MONDO:equivalentTo", source="DOID:8692", source="MONDO:exact-label-match"}
xref: SCTID:128934006 {source="DOID:8692"}
xref: SCTID:154587007 {source="DOID:8692"}
xref: SCTID:188732008 {source="MONDO:equivalentTo", source="DOID:8692"}
xref: SCTID:188743000 {source="DOID:8692"}
xref: SCTID:190047005 {source="DOID:8692"}
xref: SCTID:269631008 {source="DOID:8692"}
xref: SCTID:324170002 {source="DOID:8692"}
xref: SCTID:37810007 {source="DOID:8692"}
xref: SCTID:94717009 {source="DOID:8692"}
xref: UMLS:C0023470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7320"}
is_a: MONDO:0005059 {source="DOID:8692", source="MESH:D007951", source="NCIT:C3172"} ! leukemia
is_a: MONDO:0005170 {source="MONDO:Redundant", source="NCIT:C3172"} ! myeloid neoplasm
is_a: MONDO:0021138 {source="MONDO:Redundant", source="NCIT:C3172"} ! bone marrow cancer
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia" xsd:anyURI {source="GARD:0008226"}

[Term]
id: MONDO:0004644
name: subacute monocytic leukemia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:8696 {source="MONDO:equivalentTo"}
xref: ICD9:206.2 {source="DOID:8696"}
xref: ICD9:206.20 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:12834001 {source="DOID:8696"}
xref: SCTID:154596007 {source="DOID:8696"}
xref: SCTID:188746008 {source="MONDO:equivalentTo", source="DOID:8696"}
xref: SCTID:190059009 {source="DOID:8696"}
xref: SCTID:95276000 {source="DOID:8696"}
xref: UMLS:C0152275 {source="MEDGEN:508955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004600 {source="DOID:8696"} ! monocytic leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004645
name: cheek mucosa cancer
def: "A malignant neoplasm involving the buccal mucosa." [https://orcid.org/0000-0002-6601-2165]
synonym: "buccal mucosa cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of buccal mucosa" EXACT [MONDO:patterns/cancer]
synonym: "malignant buccal mucosa neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9320]
synonym: "malignant buccal mucosa tumor" EXACT [NCIT:C9320]
synonym: "malignant buccal mucosa tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of buccal mucosa" EXACT [DOID:8702, MONDO:patterns/cancer, NCIT:C9320]
synonym: "malignant neoplasm of cheek, inner aspect" EXACT [DOID:8702]
synonym: "malignant neoplasm of the buccal mucosa" EXACT [DOID:8702, NCIT:C9320]
synonym: "malignant tumor of buccal mucosa" EXACT [NCIT:C9320]
synonym: "malignant tumor of the buccal mucosa" EXACT [NCIT:C9320]
synonym: "malignant tumour of buccal mucosa" EXACT OMO:0003005 []
synonym: "malignant tumour of the buccal mucosa" EXACT OMO:0003005 []
xref: DOID:8702 {source="MONDO:equivalentTo"}
xref: ICD10CM:C06.0 {source="DOID:8702"}
xref: ICD9:145.0 {source="DOID:8702", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9320 {source="DOID:8702", source="MONDO:equivalentTo"}
xref: SCTID:363386008 {source="DOID:8702", source="MONDO:equivalentTo"}
xref: SCTID:93735006 {source="DOID:8702"}
xref: UMLS:C0153373 {source="MEDGEN:57550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005515 {source="DOID:8702", source="NCIT:C9320"} ! oral cavity cancer
is_a: MONDO:0021241 {source="MONDO:Redundant", source="NCIT:C9320"} ! buccal mucosa neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0006956 ! buccal mucosa

[Term]
id: MONDO:0004646
name: decubitus ulcer
def: "Death of tissue due to external pressure." [NCIT:P378]
synonym: "bedsore" RELATED [DOID:8717]
synonym: "decubitus (pressure) ulcer" EXACT [DOID:8717]
synonym: "decubitus ulcer" EXACT [DOID:8717]
synonym: "decubitus ulcer any site" EXACT [DOID:8717]
synonym: "decubitus ulcer, elbow" EXACT [DOID:8717]
synonym: "decubitus ulcer, lower back" EXACT [DOID:8717]
synonym: "decubitus ulcer, other site" EXACT [DOID:8717]
synonym: "decubitus ulcer, upper back" EXACT [DOID:8717]
synonym: "pressure sores" EXACT [DOID:8717, MTH:U000022]
synonym: "pressure ulcer" EXACT [DOID:8717]
xref: DOID:8717 {source="MONDO:equivalentTo"}
xref: ICD10CM:L89 {source="DOID:8717"}
xref: ICD10CM:L89.9 {source="DOID:8717"}
xref: ICD9:707.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8717"}
xref: ICD9:707.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8717"}
xref: MEDGEN:1789997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003668 {source="MONDO:equivalentTo", source="DOID:8717"}
xref: NCIT:C50706 {source="MONDO:otherHierarchy", source="DOID:8717"}
xref: SCTID:142668003 {source="DOID:8717"}
xref: SCTID:156424003 {source="DOID:8717"}
xref: SCTID:165258002 {source="DOID:8717"}
xref: SCTID:201248003 {source="DOID:8717"}
xref: SCTID:28103007 {source="DOID:8717"}
xref: SCTID:399912005 {source="MONDO:equivalentTo", source="DOID:8717"}
xref: SCTID:400192002 {source="DOID:8717"}
xref: SCTID:418172001 {source="DOID:8717"}
xref: SCTID:420226006 {source="DOID:8717"}
xref: SCTID:90144002 {source="DOID:8717"}
xref: UMLS:C4554531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1789997"}
is_a: MONDO:0004605 {source="DOID:8717", source="EFO:0007067"} ! chronic ulcer of skin

[Term]
id: MONDO:0004647
name: in situ carcinoma
def: "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion." [NCIT:C2917]
comment: Editor note: check pre-malignant vs malignant
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma in situ" EXACT [NCIT:C2917]
synonym: "carcinoma, in situ, malignant" EXACT [NCIT:C2917]
synonym: "CIS" BROAD ABBREVIATION [NCIT:C2917]
synonym: "epithelial tumor, in situ, malignant" EXACT [NCIT:C2917]
synonym: "intraepithelial carcinoma" EXACT [NCIT:C2917]
synonym: "non-invasive carcinoma" EXACT [NCIT:C2917]
synonym: "stage 0 disease" EXACT [NCIT:C2917]
xref: DOID:8719 {source="MONDO:equivalentTo"}
xref: ICD10CM:D00-D09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D09.9 {source="DOID:8719"}
xref: ICD9:230-234.99 {source="DOID:8719"}
xref: ICD9:234.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:234.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8719"}
xref: ICDO:8010/2 {source="NCIT:C2917"}
xref: MEDGEN:763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002278 {source="MONDO:equivalentTo", source="DOID:8719"}
xref: NCIT:C2917 {source="MONDO:equivalentTo", source="DOID:8719", source="MONDO:exact-label-match"}
xref: SCTID:109355002 {source="MONDO:equivalentTo", source="DOID:8719"}
xref: SCTID:154635000 {source="DOID:8719"}
xref: SCTID:154640008 {source="DOID:8719"}
xref: SCTID:189208007 {source="DOID:8719"}
xref: SCTID:189359006 {source="DOID:8719"}
xref: SCTID:189548003 {source="DOID:8719"}
xref: SCTID:271528002 {source="DOID:8719"}
xref: SCTID:399919001 {source="DOID:8719"}
xref: SCTID:68956006 {source="DOID:8719"}
xref: UMLS:C0007099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763"}
is_a: MONDO:0004993 {source="MESH:D002278", source="MONDO:Redundant", source="NCIT:C2917"} ! carcinoma
is_a: MONDO:0021074 {source="MONDO:Redundant", source="NCIT:C2917"} ! precancerous condition
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: MONDO:0021074 ! precancerous condition
intersection_of: has_characteristic PATO:0002132 ! neoplastic, non-invasive
relationship: excluded_subClassOf MONDO:0000611 {source="DOID:8719", source="https://orcid.org/0000-0001-5208-3432"} ! pre-malignant neoplasm
relationship: has_characteristic MONDO:0024493 {source="NCIT:C2917"} ! tumor grade 3, general grading system

[Term]
id: MONDO:0004648
name: vascular dementia
def: "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions." [NCIT:C34525]
subset: otar {source="MONDO:OTAR"}
synonym: "multi infarct dementia" NARROW [DOID:8725, MTH:NOCODE, NCIT:C34522]
synonym: "multifocal dementia" RELATED [DOID:8725]
synonym: "vascular dementia" EXACT [NCIT:C34525]
xref: DOID:8725 {source="MONDO:equivalentTo"}
xref: EFO:0004718 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F01 {source="DOID:8725"}
xref: ICD10CM:F01.5 {source="DOID:8725"}
xref: ICD9:290.4 {source="DOID:8725"}
xref: MEDGEN:41447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015140 {source="DOID:8725", source="MONDO:equivalentTo"}
xref: MESH:D015161 {source="DOID:8725"}
xref: NCIT:C34522 {source="DOID:8725"}
xref: NCIT:C34525 {source="DOID:8725", source="MONDO:equivalentTo"}
xref: SCTID:154850006 {source="DOID:8725"}
xref: SCTID:191462009 {source="DOID:8725"}
xref: SCTID:192165000 {source="DOID:8725"}
xref: SCTID:192167008 {source="DOID:8725"}
xref: SCTID:192171006 {source="DOID:8725"}
xref: SCTID:268613002 {source="DOID:8725"}
xref: SCTID:429998004 {source="DOID:8725", source="MONDO:equivalentTo"}
xref: SCTID:56267009 {source="DOID:8725"}
xref: UMLS:C0011269 {source="MEDGEN:41447", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001627 {source="DOID:8725", source="MESH:D015140", source="NCIT:C34525"} ! dementia
is_a: MONDO:0011057 {source="MESH:D015140", source="MESH:D015140/inferred"} ! cerebrovascular disorder
relationship: disease_has_feature HP:0000726 ! Dementia
relationship: disease_has_location UBERON:0003499 {source="EFO:0000784"} ! brain blood vessel

[Term]
id: MONDO:0004649
name: anaerobic pneumonia
def: "A pneumonia caused by anaerobic bacteria." [https://orcid.org/0000-0002-6601-2165]
synonym: "pneumonia caused by anaerobic bacteria" RELATED []
synonym: "pneumonia due to anaerobes" EXACT [DOID:873]
synonym: "pneumonia due to anaerobic bacteria" EXACT []
xref: DOID:873 {source="MONDO:equivalentTo"}
xref: ICD9:482.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:873"}
xref: ICD9:482.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:731236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:409664000 {source="MONDO:equivalentTo"}
xref: UMLS:C1443976 {source="MEDGEN:731236", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004652 {source="DOID:873/inferred", source="MONDO:Redundant"} ! bacterial pneumonia
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease
relationship: excluded_subClassOf MONDO:0000265 {source="DOID:873", source="https://orcid.org/0000-0001-5208-3432"} ! aspiration pneumonia

[Term]
id: MONDO:0004650
name: malignant carotid body paraganglioma
def: "A carotid body paraganglioma that metastasizes to other anatomic sites." [NCIT:C3574]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cancer of carotid body" RELATED [DOID:8731]
synonym: "carotid body cancer" RELATED [DOID:8731]
synonym: "carotid body paraganglioma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "chemodectoma, malignant" RELATED [NCIT:C3574]
synonym: "malignant carotid body neoplasm" RELATED [NCIT:C3574]
synonym: "malignant carotid body paraganglioma" EXACT [DOID:8731, NCIT:C3574]
synonym: "malignant carotid body tumor" RELATED [NCIT:C3574]
synonym: "malignant carotid body tumor (morphologic abnormality)" EXACT [DOID:8731]
synonym: "malignant carotid body tumour" RELATED OMO:0003005 []
synonym: "malignant carotid body tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "malignant neoplasm of carotid body" RELATED [NCIT:C3574]
synonym: "malignant neoplasm of the carotid body" RELATED [NCIT:C3574]
synonym: "malignant tumor of carotid body" RELATED [NCIT:C3574]
synonym: "malignant tumor of the carotid body" RELATED [NCIT:C3574]
synonym: "malignant tumour of carotid body" RELATED OMO:0003005 []
synonym: "malignant tumour of the carotid body" RELATED OMO:0003005 []
xref: DOID:8731 {source="MONDO:equivalentTo"}
xref: ICD10CM:C75.4 {source="DOID:8731", source="MONDO:equivalentTo"}
xref: ICD9:194.5 {source="DOID:8731", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3574 {source="DOID:8731", source="MONDO:equivalentTo"}
xref: SCTID:16822006 {source="DOID:8731"}
xref: SCTID:188342008 {source="DOID:8731"}
xref: SCTID:447883002 {source="DOID:8731", source="MONDO:equivalentTo"}
xref: SCTID:93740003 {source="DOID:8731"}
xref: UMLS:C0153656 {source="MEDGEN:56318", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C3574"} ! head and neck cancer
is_a: MONDO:0021053 {source="MONDO:Redundant", source="NCIT:C3574"} ! carotid body paraganglioma
is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C3574/inferred"} ! malignant endocrine neoplasm
intersection_of: MONDO:0021053 ! carotid body paraganglioma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: excluded_subClassOf MONDO:0002095 {source="DOID:8731", source="https://orcid.org/0000-0001-5208-3432"} ! vascular cancer

[Term]
id: MONDO:0004651
name: smallpox
def: "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ordinary smallpox" EXACT [DOID:8736]
synonym: "smallpox virus infection" RELATED [NCIT:C96527]
synonym: "Variola" RELATED [GARD:0007444]
synonym: "Variola virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Variola virus disease or disorder" EXACT []
synonym: "variola virus infection" RELATED [NCIT:C96527]
synonym: "Variola virus infectious disease" EXACT []
synonym: "variola virus VAR infection" RELATED [NCIT:C96527]
xref: DOID:8736 {source="MONDO:equivalentTo"}
xref: ICD10CM:B03 {source="DOID:8736", source="MONDO:equivalentTo"}
xref: ICD9:050 {source="DOID:8736"}
xref: ICD9:050.9 {source="DOID:8736", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:20785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012899 {source="DOID:8736", source="MONDO:equivalentTo"}
xref: NCIT:C35027 {source="DOID:8736", source="MONDO:equivalentTo"}
xref: SCTID:154344005 {source="DOID:8736"}
xref: SCTID:186505008 {source="DOID:8736"}
xref: SCTID:266193008 {source="DOID:8736"}
xref: SCTID:47452006 {source="DOID:8736"}
xref: SCTID:67924001 {source="DOID:8736", source="MONDO:equivalentTo"}
xref: UMLS:C0037354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20785"}
is_a: MONDO:0005108 {source="DOID:8736", source="MESH:D012899/inferred", source="MONDO:Redundant", source="NCIT:C35027"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10255 ! disease has primary infectious agent Variola virus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7444/smallpox" xsd:anyURI {source="GARD:0007444"}

[Term]
id: MONDO:0004652
name: bacterial pneumonia
def: "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Bacteria caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria pneumonia" EXACT []
synonym: "gram-negative pneumonia" EXACT [DOID:874]
synonym: "pneumonia due to other gram-negative bacteria" EXACT [DOID:874, ICD9CM:482.83]
xref: DOID:874 {source="MONDO:equivalentTo"}
xref: EFO:1001272 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J15.9 {source="DOID:874"}
xref: ICD9:482.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:482.9 {source="DOID:874", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018410 {source="DOID:874", source="MONDO:equivalentTo"}
xref: NCIT:C26704 {source="DOID:874", source="MONDO:equivalentTo"}
xref: SCTID:155553007 {source="DOID:874"}
xref: SCTID:195891009 {source="DOID:874"}
xref: SCTID:195892002 {source="DOID:874"}
xref: SCTID:53084003 {source="DOID:874", source="MONDO:equivalentTo"}
xref: UMLS:C0004626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:484"}
is_a: MONDO:0005113 {source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704"} ! bacterial infectious disease
is_a: MONDO:0005249 {source="DOID:874", source="EFO:1001272", source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704"} ! pneumonia
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria
relationship: disease_has_infectious_agent NCBITaxon:2 {source="MONDO:Wikidata"} ! Bacteria

[Term]
id: MONDO:0004653
name: atypical chronic myeloid leukemia, BCR-ABL1 negative
def: "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)" [NCIT:C3519]
subset: gard_rare {source="GARD:19583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98824"}
subset: orphanet_rare {source="Orphanet:98824"}
subset: rare
synonym: "aCML" EXACT [DOID:0060597, NCIT:C3519]
synonym: "atypical chronic myeloid leukaemia" EXACT OMO:0003005 []
synonym: "atypical chronic myeloid leukaemia BCR-ABL1 negative" EXACT OMO:0003005 []
synonym: "atypical chronic myeloid leukemia" EXACT [NCIT:C3519]
synonym: "atypical chronic myeloid leukemia BCR-ABL1 negative" EXACT [DOID:0060597]
synonym: "atypical chronic myeloid leukemia, BCR-ABL1 Negative" EXACT [NCIT:C3519]
synonym: "atypical CML" EXACT [DOID:0060597, DOID:8747, NCIT:C3519]
synonym: "subacute granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "subacute granulocytic leukemia" EXACT [DOID:0060597, NCIT:C3519]
synonym: "subacute myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "subacute myelogenous leukemia" EXACT [DOID:0060597, NCIT:C3519]
synonym: "subacute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "subacute myeloid leukemia" EXACT [DOID:0060597, NCIT:C3519, Orphanet:98824]
xref: DOID:0060597 {source="MONDO:equivalentTo"}
xref: DOID:8747 {source="MONDO:equivalentObsolete"}
xref: GARD:19583 {source="MONDO:GARD"}
xref: ICD10CM:C92.2 {source="DOID:0060597", source="Orphanet:98824", source="Orphanet:98824/e"}
xref: icd11.foundation:331838766 {source="MONDO:equivalentTo", source="Orphanet:98824", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9876/3 {source="NCIT:C3519"}
xref: MedDRA:10054651 {source="Orphanet:98824", source="Orphanet:98824/e"}
xref: MEDGEN:266233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054438 {source="DOID:0060597", source="Orphanet:98824", source="Orphanet:98824/e"}
xref: NCIT:C3519 {source="DOID:0060597", source="MONDO:equivalentTo"}
xref: Orphanet:98824 {source="DOID:0060597", source="MONDO:equivalentTo"}
xref: SCTID:277589003 {source="MONDO:equivalentTo"}
xref: SCTID:95278004 {source="DOID:8747"}
xref: UMLS:C1292772 {source="MEDGEN:266233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004643 {source="DOID:8747"} ! myeloid leukemia
is_a: MONDO:0005046 {source="MONDO:Redundant", source="MONDO:indirect"} ! immune system disorder
is_a: MONDO:0006311 {source="DOID:0060597", source="NCIT:C3519"} ! myelodysplastic/myeloproliferative neoplasm
is_a: MONDO:0020077 {source="Orphanet:98824"} ! myelodysplastic/myeloproliferative disease
relationship: disease_arises_from_structure CL:0000049 {source="NCIT:C3519"} ! common myeloid progenitor
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4487" xsd:anyURI

[Term]
id: MONDO:0004654
name: obsolete pyomyositis
is_obsolete: true
replaced_by: MONDO:0019168

[Term]
id: MONDO:0004655
name: obsolete acute megakaryoblastic leukemia
is_obsolete: true
replaced_by: MONDO:0018872

[Term]
id: MONDO:0004656
name: rubella
def: "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body." [NCIT:P378]
subset: gard_rare {source="GARD:4742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "german measles" EXACT [DOID:8781]
synonym: "Rubella infection" EXACT [NCIT:C85051]
synonym: "Rubella virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rubella virus disease or disorder" EXACT []
synonym: "Rubella virus infectious disease" EXACT []
synonym: "three day measles" RELATED [GARD:0004742]
synonym: "three-Day Measles" EXACT [NCIT:C85051]
xref: DOID:8781 {source="MONDO:equivalentTo"}
xref: EFO:1002026 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4742 {source="MONDO:GARD"}
xref: ICD10CM:B06 {source="MONDO:equivalentTo", source="DOID:8781"}
xref: ICD10CM:B06.9 {source="DOID:8781"}
xref: ICD9:056 {source="DOID:8781"}
xref: MEDGEN:48514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012409 {source="MONDO:equivalentTo", source="DOID:8781"}
xref: NCIT:C85051 {source="MONDO:equivalentTo", source="DOID:8781"}
xref: SCTID:154343004 {source="DOID:8781"}
xref: SCTID:266192003 {source="DOID:8781"}
xref: SCTID:36653000 {source="MONDO:equivalentTo", source="DOID:8781"}
xref: UMLS:C0035920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48514"}
is_a: MONDO:0005108 {source="DOID:8781", source="EFO:1002026", source="MESH:D012409/inferred", source="NCIT:C85051"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11041 ! disease has primary infectious agent Rubella virus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4742/rubella" xsd:anyURI {source="GARD:0004742"}

[Term]
id: MONDO:0004657
name: disseminated chorioretinitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:8787 {source="MONDO:equivalentTo"}
xref: ICD10CM:H30.1 {source="DOID:8787"}
xref: ICD10CM:H30.10 {source="DOID:8787"}
xref: ICD9:363.1 {source="DOID:8787"}
xref: ICD9:363.10 {source="DOID:8787", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193441002 {source="DOID:8787"}
xref: SCTID:193447003 {source="DOID:8787"}
xref: SCTID:78769001 {source="DOID:8787", source="MONDO:equivalentTo"}
xref: UMLS:C0154879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509696"}
is_a: MONDO:0004674 {source="DOID:8787", source="MONDO:Redundant"} ! chorioretinitis
intersection_of: MONDO:0004674 ! chorioretinitis
intersection_of: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0004658
name: breast carcinoma in situ
def: "A in situ carcinoma that involves the breast." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "breast cancer in situ" EXACT [NCIT:C3641]
synonym: "breast cancer stage 0" EXACT [NCIT:C3641]
synonym: "breast carcinoma in situ" EXACT [NCIT:C3641]
synonym: "breast in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of breast" EXACT [DOID:8791, MONDO:patterns/carcinoma_in_situ, NCIT:C3641]
synonym: "carcinoma in situ of the breast" EXACT [NCIT:C3641]
synonym: "in situ breast cancer" EXACT [NCIT:C3641]
synonym: "non-infiltrating breast carcinoma" EXACT [NCIT:C3641]
synonym: "non-infiltrating carcinoma of breast" EXACT [DOID:8791, NCIT:C3641]
synonym: "non-infiltrating carcinoma of the breast" EXACT [NCIT:C3641]
synonym: "non-invasive breast carcinoma" EXACT [NCIT:C3641]
synonym: "non-invasive carcinoma of breast" EXACT [NCIT:C3641]
synonym: "non-invasive carcinoma of the breast" EXACT [NCIT:C3641]
synonym: "stage 0 breast cancer" EXACT [NCIT:C3641]
synonym: "stage 0 breast cancer aJCC v6" EXACT [NCIT:C3641]
synonym: "stage 0 breast cancer aJCC v6 and v7" EXACT [NCIT:C3641]
synonym: "stage 0 breast cancer aJCC v7" EXACT [NCIT:C3641]
synonym: "stage 0 breast carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3641]
synonym: "stage 0 breast carcinoma in situ" EXACT [NCIT:C3641]
synonym: "stage 0 carcinoma of breast" EXACT [NCIT:C3641]
synonym: "stage 0 carcinoma of the breast" EXACT [NCIT:C3641]
xref: DOID:8791 {source="MONDO:equivalentTo"}
xref: ICD10CM:D05 {source="DOID:8791"}
xref: ICD10CM:D05.9 {source="DOID:8791"}
xref: ICD9:233.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8791"}
xref: MEDGEN:57817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000071960 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C3641 {source="MONDO:equivalentTo", source="DOID:8791"}
xref: SCTID:154636004 {source="DOID:8791"}
xref: SCTID:189336000 {source="MONDO:equivalentTo", source="DOID:8791"}
xref: UMLS:C0154084 {source="MEDGEN:57817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="DOID:8791", source="MONDO:Redundant", source="NCIT:C3641"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0004659
name: eye carcinoma in situ
def: "A carcinoma in situ involving a eye." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of eye" EXACT [DOID:8792, MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of eyeball of camera-type eye" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "eye in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "eyeball of camera-type eye carcinoma in situ" EXACT []
synonym: "stage 0 eye carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 eyeball of camera-type eye carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:8792 {source="MONDO:equivalentTo"}
xref: ICD10CM:D09.2 {source="DOID:8792"}
xref: ICD9:234.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8792"}
xref: MEDGEN:509519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:92590009 {source="MONDO:equivalentTo", source="DOID:8792"}
xref: UMLS:C0154094 {source="MEDGEN:509519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="DOID:8792", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0004660
name: lung carcinoma in situ
def: "A carcinoma in situ involving a lung." [MONDO:patterns/carcinoma_in_situ]
synonym: "bronchial carcinoma in situ" EXACT [NCIT:C27467]
synonym: "carcinoma in situ of lung" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "lung in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 lung cancer" EXACT [NCIT:C27467]
synonym: "stage 0 lung cancer aJCC v6" EXACT [NCIT:C27467]
synonym: "stage 0 lung cancer aJCC v6 and v7" EXACT [NCIT:C27467]
synonym: "stage 0 lung cancer aJCC v7" EXACT [NCIT:C27467]
synonym: "stage 0 lung carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:8800 {source="MONDO:equivalentTo"}
xref: ICD10CM:D02.2 {source="DOID:8800"}
xref: ICD9:231.2 {source="DOID:8800"}
xref: MEDGEN:146894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27467 {source="MONDO:equivalentTo"}
xref: SCTID:189262006 {source="DOID:8800"}
xref: SCTID:189268005 {source="DOID:8800"}
xref: SCTID:92649001 {source="MONDO:equivalentTo"}
xref: UMLS:C0685053 {source="MEDGEN:146894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="DOID:8800", source="MONDO:Redundant", source="NCIT:C27467"} ! in situ carcinoma
is_a: MONDO:0005138 {source="MONDO:Redundant", source="NCIT:C27467/inferred"} ! lung carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0004661
name: trachea carcinoma in situ
def: "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." [NCIT:P378]
synonym: "carcinoma in situ of the trachea" EXACT [NCIT:C3639]
synonym: "carcinoma in situ of trachea" EXACT [DOID:8802, MONDO:patterns/carcinoma_in_situ, NCIT:C3639]
synonym: "severe epithelial dysplasia of trachea" EXACT [NCIT:C3639]
synonym: "stage 0 trachea carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "trachea carcinoma in situ" EXACT [NCIT:C3639]
synonym: "trachea in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "tracheal carcinoma in situ" EXACT [DOID:8802, NCIT:C3639]
xref: DOID:8802 {source="MONDO:equivalentTo"}
xref: ICD10CM:D02.1 {source="DOID:8802", source="MONDO:equivalentTo"}
xref: ICD9:231.1 {source="DOID:8802", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3639 {source="DOID:8802", source="MONDO:equivalentTo"}
xref: SCTID:92772005 {source="DOID:8802", source="MONDO:equivalentTo"}
xref: UMLS:C0154070 {source="MEDGEN:57816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001419 {source="MONDO:Redundant", source="NCIT:C3639"} ! trachea squamous cell carcinoma
is_a: MONDO:0004647 {source="DOID:8802", source="MONDO:Redundant", source="NCIT:C3639/inferred"} ! in situ carcinoma
is_a: MONDO:0004693 {source="MONDO:Redundant", source="NCIT:C3639"} ! squamous carcinoma in situ
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0004662
name: heterophyiasis
def: "An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." [NCIT:C128389]
synonym: "Heterophyes infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Heterophyes infectious disease" EXACT [DOID:882]
synonym: "infections, Heterophyes" RELATED [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:882 {source="MONDO:equivalentTo"}
xref: ICD10CM:B66.8 {source="DOID:882"}
xref: ICD9:121.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:882"}
xref: MEDGEN:508869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128389 {source="MONDO:equivalentTo"}
xref: SCTID:187126008 {source="DOID:882"}
xref: SCTID:22905009 {source="MONDO:equivalentTo", source="DOID:882"}
xref: UMLS:C0152071 {source="MEDGEN:508869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:882"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:882/inferred", source="MONDO:Redundant", source="NCIT:C128389"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:104454 ! Heterophyes

[Term]
id: MONDO:0004663
name: colon carcinoma in situ
def: "A in situ carcinoma that involves the colon." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma in situ of colon" EXACT [DOID:8826, MONDO:patterns/carcinoma_in_situ, NCIT:C3638]
synonym: "carcinoma in situ of the colon" EXACT [NCIT:C3638]
synonym: "colon cancer stage 0" EXACT [NCIT:C3638]
synonym: "colon carcinoma in situ" EXACT [NCIT:C3638]
synonym: "colon in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "colonic carcinoma in situ" EXACT [NCIT:C3638]
synonym: "stage 0 carcinoma of colon" EXACT [NCIT:C3638]
synonym: "stage 0 carcinoma of the colon" EXACT [NCIT:C3638]
synonym: "stage 0 colon cancer" EXACT [NCIT:C3638]
synonym: "stage 0 colon cancer aJCC v6" EXACT [NCIT:C3638]
synonym: "stage 0 colon cancer aJCC v6 and v7" EXACT [NCIT:C3638]
synonym: "stage 0 colon cancer aJCC v7" EXACT [NCIT:C3638]
synonym: "stage 0 colon carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3638]
synonym: "stage 0 colonic carcinoma" EXACT [DOID:8826, NCIT:C3638]
xref: DOID:8826 {source="MONDO:equivalentTo"}
xref: ICD10CM:D01.0 {source="DOID:8826", source="MONDO:equivalentTo"}
xref: ICD9:230.3 {source="DOID:8826", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3638 {source="DOID:8826", source="MONDO:equivalentTo"}
xref: SCTID:189230008 {source="DOID:8826"}
xref: SCTID:92568009 {source="DOID:8826", source="MONDO:equivalentTo"}
xref: UMLS:C0154061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56334"}
is_a: MONDO:0004698 {source="DOID:8826", source="MONDO:Redundant"} ! intestine carcinoma in situ
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0004664
name: helminthiasis
def: "A parasitic infection characterized by the infestation with worms, mainly in the intestine." [NCIT:C84751]
comment: Editor note: this is a vague grouping and does not correspond to any one taxon
subset: otar {source="MONDO:OTAR"}
synonym: "helminth infection" EXACT [DOID:883]
synonym: "helminthiasis" EXACT [NCIT:C84751]
synonym: "helminthosis" EXACT [DOID:883]
synonym: "parasitic helminthiasis infectious disease" EXACT [DOID:883]
synonym: "worm infection" RELATED [DOID:883]
xref: DOID:883 {source="MONDO:equivalentTo"}
xref: EFO:1001342 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B65-B83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:883", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:B83.9 {source="DOID:883"}
xref: ICD9:120-129.99 {source="DOID:883"}
xref: ICD9:128.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:128.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:883"}
xref: MEDGEN:6765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006373 {source="MONDO:equivalentTo", source="DOID:883"}
xref: NCIT:C84751 {source="MONDO:equivalentTo", source="DOID:883"}
xref: SCTID:154410004 {source="DOID:883"}
xref: SCTID:187189004 {source="DOID:883"}
xref: SCTID:187518006 {source="DOID:883"}
xref: SCTID:187542005 {source="DOID:883"}
xref: SCTID:266219000 {source="DOID:883"}
xref: SCTID:27601005 {source="MONDO:equivalentTo", source="DOID:883"}
xref: UMLS:C0018889 {source="MEDGEN:6765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="DOID:883", source="EFO:1001342", source="MESH:D006373", source="NCIT:C84751"} ! parasitic infectious disease

[Term]
id: MONDO:0004665
name: nodular sclerosis classical Hodgkin lymphoma
def: "A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)" [NCIT:C3518]
subset: gard_rare {source="GARD:19591", source="MONDO:GARD"}
subset: ordo_histopathological_subtype {source="Orphanet:98843"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98843"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classical Hodgkin lymphoma, nodular sclerosis" EXACT [DOID:8838]
synonym: "Hodgkin lymphoma, nodular sclerosis" EXACT [DOID:8838]
synonym: "Hodgkin's disease nodular sclerosis" EXACT [DOID:8838]
synonym: "Hodgkin's disease nodular sclerosis NOS" RELATED EXCLUDE [DOID:8838]
synonym: "Hodgkin's disease, nodular sclerosis" RELATED [DOID:8838]
synonym: "Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)" EXACT [DOID:8838]
synonym: "Hodgkin's disease, nodular sclerosis of unspecified site" EXACT [DOID:8838]
synonym: "Hodgkin's lymphoma, nodular sclerosis" RELATED [DOID:8838]
synonym: "Hodgkin's nodular sclerosis" EXACT [NCIT:C3518]
synonym: "nodular sclerosis Classic Hodgkin lymphoma" EXACT [NCIT:C3518]
synonym: "nodular sclerosis classical Hodgkin lymphoma" EXACT [NCIT:C3518]
synonym: "nodular sclerosis Hodgkin lymphoma" EXACT [MONDO:0005422, NCIT:C3518]
synonym: "nodular sclerosis Hodgkin's disease" EXACT [NCIT:C3518]
synonym: "nodular sclerosis Hodgkin's lymphoma" EXACT [NCIT:C3518]
synonym: "NSCHL" EXACT ABBREVIATION [NCIT:C3518]
synonym: "NSHD" EXACT ABBREVIATION [NCIT:C3518]
synonym: "NSHL" EXACT ABBREVIATION [DOID:8838, NCIT:C3518]
xref: DOID:8838 {source="MONDO:equivalentTo"}
xref: EFO:0004708 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19591 {source="MONDO:GARD"}
xref: ICD10CM:C81.1 {source="Orphanet:98843", source="DOID:8838", source="Orphanet:98843/e"}
xref: icd11.foundation:1995941600 {source="Orphanet:98843", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:201.5 {source="DOID:8838"}
xref: ICDO:9663/3 {source="NCIT:C3518"}
xref: MEDGEN:101830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3518 {source="MONDO:equivalentTo", source="DOID:8838", source="EFO:0004708"}
xref: ONCOTREE:NSCHL {source="MONDO:equivalentTo"}
xref: Orphanet:98843 {source="MONDO:equivalentTo"}
xref: SCTID:118608000 {source="MONDO:equivalentTo", source="DOID:8838"}
xref: SCTID:134178004 {source="DOID:8838"}
xref: SCTID:188564003 {source="DOID:8838"}
xref: SCTID:188573006 {source="DOID:8838"}
xref: SCTID:52248008 {source="DOID:8838"}
xref: UMLS:C0152268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101830"}
is_a: MONDO:0004952 {source="DOID:8838", source="EFO:0004708", source="MONDO:0004665/inferred", source="NCIT:C3518/inferred", source="ONCOTREE:NSCHL/inferred"} ! Hodgkins lymphoma
is_a: MONDO:0009348 {source="NCIT:C3518", source="ONCOTREE:NSCHL", source="Orphanet:98843"} ! classic Hodgkin lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7278" xsd:anyURI

[Term]
id: MONDO:0004666
name: metagonimiasis
def: "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." [NCIT:C128390]
synonym: "infection by Metagonimus yokogawai" EXACT [DOID:884]
synonym: "infections, Metagonimus yokogawai" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Metagonimus yokogawai infection" EXACT [GARD:0009745, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:884 {source="MONDO:equivalentTo"}
xref: ICD10CM:B66.8 {source="DOID:884"}
xref: ICD9:121.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:884"}
xref: MEDGEN:7564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014201 {source="DOID:884"}
xref: NCIT:C128390 {source="MONDO:equivalentTo"}
xref: SCTID:37832003 {source="MONDO:equivalentTo", source="DOID:884"}
xref: UMLS:C0025530 {source="MEDGEN:7564", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:884"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:884/inferred", source="MONDO:Redundant", source="NCIT:C128390"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:84529 ! Metagonimus yokogawai
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis" xsd:anyURI {source="GARD:0009745"}

[Term]
id: MONDO:0004667
name: sublingual gland cancer
def: "A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas." [NCIT:C3527]
synonym: "cancer of sublingual gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sublingual gland" EXACT [MONDO:patterns/cancer, NCIT:C3527]
synonym: "malignant neoplasm of the sublingual gland" EXACT [NCIT:C3527]
synonym: "malignant sublingual gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3527]
synonym: "malignant sublingual gland tumor" EXACT [NCIT:C3527]
synonym: "malignant sublingual gland tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of sublingual gland" EXACT [NCIT:C3527]
synonym: "malignant tumor of the sublingual gland" EXACT [DOID:8849, NCIT:C3527]
synonym: "malignant tumour of sublingual gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the sublingual gland" EXACT OMO:0003005 []
synonym: "sublingual gland cancer" EXACT [MONDO:patterns/location]
xref: DOID:8849 {source="MONDO:equivalentTo"}
xref: ICD10CM:C08.1 {source="DOID:8849"}
xref: ICD9:142.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8849"}
xref: MEDGEN:102263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3527 {source="MONDO:equivalentTo", source="DOID:8849"}
xref: SCTID:363381003 {source="MONDO:equivalentTo", source="DOID:8849"}
xref: SCTID:94076001 {source="DOID:8849"}
xref: UMLS:C0153361 {source="MEDGEN:102263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004669 {source="DOID:8849", source="MONDO:Entailed", source="NCIT:C3527", source="NCIT:C3527/inferred"} ! salivary gland cancer
is_a: MONDO:0021242 {source="MONDO:Redundant", source="NCIT:C3527"} ! sublingual gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001832 ! sublingual gland

[Term]
id: MONDO:0004668
name: fascioliasis
def: "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction." [NCIT:C128387]
subset: otar {source="MONDO:OTAR"}
synonym: "fasciola hepatica infection" EXACT [DOID:885]
synonym: "Fasciolosis" EXACT [NCIT:C128387]
synonym: "infection by fasciola" EXACT [DOID:885]
synonym: "liver flukes" EXACT [DOID:885]
synonym: "liver flukes NOS" RELATED EXCLUDE [DOID:885]
synonym: "sheep liver fluke infection" EXACT [DOID:885]
xref: DOID:885 {source="MONDO:equivalentTo"}
xref: EFO:1001324 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B66.3 {source="DOID:885", source="MONDO:equivalentTo"}
xref: ICD9:121.3 {source="DOID:885"}
xref: MEDGEN:41969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005211 {source="DOID:885", source="MONDO:equivalentTo"}
xref: NCIT:C128387 {source="MONDO:equivalentTo"}
xref: SCTID:111922007 {source="DOID:885"}
xref: SCTID:187125007 {source="DOID:885"}
xref: SCTID:82308007 {source="MONDO:equivalentTo"}
xref: UMLS:C0015652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41969"}
is_a: MONDO:0004664 {source="DOID:885", source="ICD10CM:B66.3/inferred", source="MESH:D005211/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:885/inferred", source="EFO:1001324", source="MESH:D005211/inferred", source="MONDO:Redundant", source="NCIT:C128387"} ! parasitic infectious disease
relationship: disease_has_feature HP:0000988 {source="MONDO:Wikidata"} ! Skin rash
relationship: disease_has_feature HP:0001903 {source="MONDO:Wikidata"} ! Anemia
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia
relationship: disease_has_feature MONDO:0006547 {source="MONDO:Wikidata"} ! exanthem
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6428/fascioliasis" xsd:anyURI {source="GARD:0006428"}

[Term]
id: MONDO:0004669
name: salivary gland cancer
def: "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C3811]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of saliva-secreting gland" EXACT [MONDO:patterns/cancer]
synonym: "cancer of salivary gland" EXACT [NCIT:C3811]
synonym: "cancer of the salivary gland" EXACT [NCIT:C3811]
synonym: "malignant neoplasm of major salivary gland" NARROW [DOID:8850]
synonym: "malignant neoplasm of saliva-secreting gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of salivary gland" EXACT [NCIT:C3811]
synonym: "malignant neoplasm of salivary gland duct" EXACT [DOID:8850]
synonym: "malignant neoplasm of the salivary gland" EXACT [NCIT:C3811]
synonym: "malignant saliva-secreting gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant salivary gland neoplasm" EXACT [NCIT:C3811]
synonym: "malignant salivary gland tumor" EXACT [NCIT:C3811]
synonym: "malignant salivary gland tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of salivary gland" EXACT [NCIT:C3811]
synonym: "malignant tumor of the major salivary gland" NARROW EXCLUDE [DOID:8850]
synonym: "malignant tumor of the salivary gland" EXACT [NCIT:C3811]
synonym: "malignant tumour of salivary gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the major salivary gland" NARROW OMO:0003005 []
synonym: "malignant tumour of the salivary gland" EXACT OMO:0003005 []
synonym: "saliva-secreting gland cancer" EXACT []
synonym: "salivary gland cancer" EXACT [NCIT:C3811]
xref: DOID:8850 {source="MONDO:equivalentTo"}
xref: ICD10CM:C08 {source="MONDO:equivalentTo", source="DOID:8850"}
xref: ICD9:142.8 {source="DOID:8850"}
xref: MEDGEN:65079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012468 {source="MONDO:equivalentTo"}
xref: NCIT:C3811 {source="MONDO:equivalentTo"}
xref: SCTID:187648003 {source="DOID:8850"}
xref: SCTID:255072001 {source="MONDO:equivalentTo"}
xref: UMLS:C0220636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65079"}
is_a: MONDO:0001142 {source="DOID:8850", source="MESH:D012468", source="MONDO:Redundant", source="NCIT:C3811/inferred"} ! salivary gland disorder
is_a: MONDO:0005515 {source="DOID:8850"} ! oral cavity cancer
is_a: MONDO:0005627 {source="NCIT:C3811"} ! head and neck cancer
is_a: MONDO:0021357 {source="MONDO:Redundant", source="NCIT:C3811"} ! tumor of salivary gland
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0004670
name: lupus erythematosus
def: "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." [NCIT:C27153]
subset: otar {source="MONDO:OTAR"}
synonym: "lupus" EXACT [DOID:8857, NCIT:C27153]
synonym: "lupus erythematosus" EXACT [NCIT:C27153]
xref: DOID:8857 {source="MONDO:equivalentTo"}
xref: ICD10CM:L93 {source="DOID:8857", source="MONDO:equivalentTo"}
xref: ICD10CM:L93.0 {source="DOID:8857"}
xref: ICD9:695.4 {source="DOID:8857", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:98043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27153 {source="DOID:8857", source="MONDO:equivalentTo"}
xref: SCTID:200936003 {source="DOID:8857", source="MONDO:equivalentTo"}
xref: SCTID:200944003 {source="DOID:8857"}
xref: UMLS:C0409974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98043"}
is_a: MONDO:0005554 {source="NCIT:C27153"} ! rheumatic disorder
is_a: MONDO:0007179 {source="DOID:8857", source="MONDO:Redundant", source="NCIT:C27153"} ! autoimmune disease

[Term]
id: MONDO:0004671
name: penis carcinoma in situ
def: "A in situ carcinoma that involves the penis." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bowen disease of the penis" EXACT [NCIT:C27790]
synonym: "Bowen's disease of penis" EXACT [DOID:8872, NCIT:C27790]
synonym: "Bowen's disease of the penis" EXACT [NCIT:C27790]
synonym: "carcinoma in situ of penis" EXACT [DOID:8872, MONDO:patterns/carcinoma_in_situ, NCIT:C27790]
synonym: "carcinoma in situ of the penis" EXACT [NCIT:C27790]
synonym: "erythroplasia of Queyrat" EXACT [NCIT:C27790]
synonym: "grade III penile intraepithelial neoplasia" EXACT [NCIT:C27790]
synonym: "grade III squamous intraepithelial lesion of penis" EXACT [DOID:8872, NCIT:C27790]
synonym: "grade III squamous intraepithelial lesion of the penis" EXACT [NCIT:C27790]
synonym: "penile carcinoma in situ" EXACT [NCIT:C27790]
synonym: "penile carcinoma in situ aJCC v7" EXACT [NCIT:C27790]
synonym: "penile intraepithelial neoplasia grade III" EXACT [DOID:8872]
synonym: "penis in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "Queyrat erythroplasia" EXACT [NCIT:C27790]
synonym: "Queyrat's erythroplasia" EXACT [DOID:8872, NCIT:C27790]
synonym: "stage 0 penile carcinoma in situ" EXACT [NCIT:C27790]
synonym: "stage 0 penis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:8872 {source="MONDO:equivalentTo"}
xref: ICD10CM:D00-D09 {source="DOID:8872"}
xref: ICD10CM:D07.4 {source="DOID:8872"}
xref: ICD9:233.5 {source="DOID:8872"}
xref: ICDO:8080/2 {source="NCIT:C27790"}
xref: MEDGEN:102309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27790 {source="MONDO:equivalentTo", source="DOID:8872"}
xref: SCTID:18348002 {source="DOID:8872"}
xref: SCTID:189208007 {source="DOID:8872"}
xref: SCTID:255104003 {source="DOID:8872"}
xref: SCTID:255105002 {source="DOID:8872"}
xref: SCTID:255147003 {source="DOID:8872"}
xref: SCTID:398768004 {source="MONDO:relatedTo", source="DOID:8872"}
xref: SCTID:398831006 {source="MONDO:equivalentTo", source="DOID:8872"}
xref: SCTID:400092004 {source="DOID:8872"}
xref: SCTID:92679008 {source="DOID:8872"}
xref: UMLS:C0154089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102309"}
is_a: MONDO:0004647 {source="DOID:8872", source="MONDO:Entailed", source="NCIT:C27790/inferred"} ! in situ carcinoma
is_a: MONDO:0004693 {source="MONDO:Redundant", source="NCIT:C27790"} ! squamous carcinoma in situ
is_a: MONDO:0018352 {source="MONDO:Redundant", source="NCIT:C27790"} ! squamous cell carcinoma of penis
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0004672
name: fasciolopsiasis
def: "A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response." [NCIT:C128388]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658909"}
subset: orphanet_rare {source="Orphanet:658909"}
subset: rare
synonym: "infection by Fasciolopsis buski" EXACT [DOID:888]
synonym: "infectious disease by Fasciolopsis" EXACT [DOID:888]
xref: DOID:888 {source="MONDO:equivalentTo"}
xref: ICD10CM:B66.5 {source="DOID:888", source="MONDO:equivalentTo"}
xref: ICD9:121.4 {source="DOID:888", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:5125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014201 {source="DOID:888"}
xref: NCIT:C128388 {source="MONDO:equivalentTo"}
xref: Orphanet:658909 {source="MONDO:equivalentTo"}
xref: SCTID:54266002 {source="DOID:888", source="MONDO:equivalentTo"}
xref: UMLS:C0015656 {source="MEDGEN:5125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:888", source="ICD10CM:B66.5/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:888/inferred", source="MONDO:Redundant", source="NCIT:C128388"} ! parasitic infectious disease

[Term]
id: MONDO:0004673
name: lower lip cancer
def: "A malignant neoplasm involving the lower lip." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of lower lip" EXACT [MONDO:patterns/cancer]
synonym: "lower lip cancer" EXACT [MONDO:patterns/location]
synonym: "malignant lower lip neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lower lip" EXACT [MONDO:patterns/cancer]
xref: DOID:8883 {source="MONDO:equivalentTo"}
xref: ICD10CM:C00.1 {source="DOID:8883"}
xref: ICD9:140.1 {source="DOID:8883"}
xref: MEDGEN:609573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187603002 {source="DOID:8883"}
xref: SCTID:187605009 {source="DOID:8883"}
xref: SCTID:363373004 {source="MONDO:equivalentTo", source="DOID:8883"}
xref: SCTID:94136008 {source="DOID:8883"}
xref: UMLS:C0432520 {source="MEDGEN:609573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006834 {source="DOID:8883", source="MONDO:Redundant"} ! lip cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001835 ! lower lip

[Term]
id: MONDO:0004674
name: chorioretinitis
def: "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision." [NCIT:P378]
subset: gard_rare {source="GARD:6060", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chorioretinitis" EXACT [MONDO:ambiguous]
synonym: "chorioretinitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "retinochoroiditis" EXACT [DOID:8886]
xref: DOID:8886 {source="MONDO:equivalentTo"}
xref: GARD:6060 {source="MONDO:GARD"}
xref: HP:0012424 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H30 {source="DOID:8886"}
xref: ICD10CM:H30.9 {source="DOID:8886"}
xref: ICD9:363.20 {source="DOID:8886", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002825 {source="DOID:8886", source="MONDO:equivalentTo"}
xref: NCIT:C110923 {source="DOID:8886", source="MONDO:equivalentTo"}
xref: SCTID:193432007 {source="DOID:8886"}
xref: SCTID:270531006 {source="DOID:8886"}
xref: SCTID:46627006 {source="DOID:8886", source="MONDO:equivalentTo"}
xref: UMLS:C0008513 {source="MEDGEN:942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:8886", source="MESH:D002825/inferred", source="MONDO:Redundant", source="NCIT:C110923/inferred"} ! eye disorder
is_a: MONDO:0020283 {source="MESH:D002825/inferred", source="NCIT:C110923"} ! uveitis
property_value: IAO:0000589 "chorioretinitis (disease)" xsd:string

[Term]
id: MONDO:0004675
name: mitochondrial encephalomyopathy
def: "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)" [MESH:D017237]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:890 {source="MONDO:equivalentTo"}
xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017237 {source="MONDO:equivalentTo", source="DOID:890"}
xref: SCTID:447292006 {source="MONDO:equivalentTo", source="DOID:890"}
xref: UMLS:C0162666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57960"}
is_a: MONDO:0009637 {source="DOID:890", source="MESH:D017237"} ! inborn mitochondrial myopathy

[Term]
id: MONDO:0004676
name: obsolete progressive myoclonus epilepsy
is_obsolete: true
replaced_by: MONDO:0020074

[Term]
id: MONDO:0004677
name: tinea nigra
def: "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions." [DOID:8912, http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html]
synonym: "infection by Cladosporium werneckii" EXACT [DOID:8912]
synonym: "keratomycosis nigricans" EXACT [DOID:8912]
synonym: "microsporosis nigra" RELATED [DOID:8912]
synonym: "Tinea palmaris nigra" EXACT [DOID:8912]
xref: DOID:8912 {source="MONDO:equivalentTo"}
xref: ICD10CM:B36.1 {source="DOID:8912", source="MONDO:equivalentTo"}
xref: ICD9:111.1 {source="DOID:8912"}
xref: MEDGEN:508865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1022006 {source="DOID:8912"}
xref: SCTID:183342005 {source="DOID:8912", source="MONDO:equivalentTo"}
xref: SCTID:184346000 {source="DOID:8912"}
xref: SCTID:185367005 {source="DOID:8912"}
xref: SCTID:186289000 {source="DOID:8912"}
xref: SCTID:187000000 {source="DOID:8912"}
xref: SCTID:266153005 {source="DOID:8912"}
xref: UMLS:C0152067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508865"}
is_a: MONDO:0024268 {source="DOID:8912", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! superficial mycosis
relationship: disease_has_location UBERON:0002027 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! stratum corneum of epidermis

[Term]
id: MONDO:0004678
name: dermatophytosis
def: "A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area." [NCIT:P378]
comment: Editor note: check cutaneous vs superficial
subset: otar {source="MONDO:OTAR"}
synonym: "dermatomycosis" RELATED [MESH:D003881]
synonym: "fungal skin disease" EXACT [MESH:D003881]
synonym: "fungal skin diseases" EXACT [MESH:D003881]
synonym: "ringworm" RELATED [Wikipedia:Dermatophytosis]
synonym: "skin disease, fungal" EXACT [MESH:D003881]
synonym: "skin diseases, fungal" EXACT [MESH:D003881]
xref: DOID:8913 {source="MONDO:equivalentTo"}
xref: ICD10CM:B35 {source="MONDO:equivalentTo", source="DOID:8913"}
xref: ICD10CM:B35.9 {source="DOID:8913"}
xref: ICD9:110 {source="DOID:8913"}
xref: ICD9:110.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:110.9 {source="MONDO:equivalentTo", source="DOID:8913", source="MONDO:i2s"}
xref: MEDGEN:3768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26745 {source="MONDO:equivalentTo", source="DOID:8913"}
xref: SCTID:154394006 {source="DOID:8913"}
xref: SCTID:186984003 {source="DOID:8913"}
xref: SCTID:186998006 {source="DOID:8913"}
xref: SCTID:187474000 {source="DOID:8913"}
xref: SCTID:266214005 {source="DOID:8913"}
xref: SCTID:47382004 {source="MONDO:equivalentTo", source="DOID:8913"}
xref: UMLS:C0011636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3768"}
is_a: MONDO:0000254 {source="DOID:8913", source="MONDO:Redundant", source="MONDO:indirect"} ! cutaneous mycosis
is_a: MONDO:0002406 {source="MONDO:Redundant", source="NCIT:C26745"} ! dermatitis
is_a: MONDO:0024268 {source="MONDO:Redundant"} ! superficial mycosis
relationship: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
relationship: disease_has_location UBERON:0002027 ! stratum corneum of epidermis

[Term]
id: MONDO:0004679
name: leukoplakia of vagina
def: "Leukoplakia of the vagina." [NCIT:P378]
synonym: "leukoplakia of the vagina" EXACT [NCIT:C3663]
synonym: "vaginal leukoplakia" EXACT [DOID:8920, NCIT:C3663]
xref: DOID:8920 {source="MONDO:equivalentTo"}
xref: ICD10CM:N89.4 {source="DOID:8920", source="MONDO:equivalentTo"}
xref: ICD9:623.1 {source="DOID:8920", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3663 {source="DOID:8920", source="MONDO:equivalentTo"}
xref: SCTID:111420009 {source="DOID:8920", source="MONDO:equivalentTo"}
xref: UMLS:C0156385 {source="MEDGEN:102351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001433 {source="DOID:8920", source="MONDO:Redundant"} ! vaginal disorder
intersection_of: MONDO:0043243 ! leukoplakia
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0004680
name: primary thrombocytopenia
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:8925 {source="MONDO:equivalentTo"}
xref: ICD10CM:D69.4 {source="DOID:8925"}
xref: ICD10CM:D69.49 {source="DOID:8925"}
xref: ICD9:287.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:287.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:287.39 {source="DOID:8925"}
xref: MEDGEN:675208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:191435001 {source="DOID:8925"}
xref: SCTID:267534000 {source="MONDO:equivalentTo"}
xref: UMLS:C0701157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:675208"}
is_a: MONDO:0000602 {source="DOID:8925"} ! autoimmune disorder of blood

[Term]
id: MONDO:0004681
name: learning disability
def: "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Academic skill disorder" EXACT [DOID:8927]
synonym: "learning disorder" EXACT [DOID:8927]
xref: DOID:8927 {source="MONDO:equivalentTo"}
xref: ICD10CM:F81.9 {source="DOID:8927"}
xref: ICD9:315.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:199623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007859 {source="MONDO:equivalentTo", source="DOID:8927"}
xref: NCIT:C89334 {source="MONDO:equivalentTo", source="DOID:8927"}
xref: SCTID:154973004 {source="DOID:8927"}
xref: SCTID:154974005 {source="DOID:8927"}
xref: SCTID:1855002 {source="MONDO:equivalentTo", source="DOID:8927"}
xref: SCTID:192531005 {source="DOID:8927"}
xref: SCTID:247576004 {source="DOID:8927"}
xref: SCTID:367332004 {source="DOID:8927"}
xref: SCTID:389991004 {source="DOID:8927"}
xref: UMLS:C0751265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199623"}
is_a: MONDO:0000592 {source="DOID:8927"} ! specific developmental disorder

[Term]
id: MONDO:0004682
name: retromolar area cancer
def: "A malignant form of neoplasm of retromolar area." [MONDO:patterns/malignant]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant neoplasm of retromolar area" EXACT []
synonym: "malignant tumor of retromolar area" EXACT [DOID:8930]
synonym: "malignant tumour of retromolar area" EXACT OMO:0003005 []
synonym: "neoplasm of retromolar area, malignant" EXACT [MONDO:patterns/malignant]
xref: DOID:8930 {source="MONDO:equivalentTo"}
xref: ICD10CM:C06.2 {source="DOID:8930", source="MONDO:equivalentTo"}
xref: ICD9:145.6 {source="DOID:8930", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363391009 {source="DOID:8930", source="MONDO:equivalentTo"}
xref: SCTID:93989001 {source="DOID:8930"}
xref: UMLS:C0153379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509268"}
is_a: MONDO:0005515 {source="DOID:8930"} ! oral cavity cancer
intersection_of: MONDO:0037744 ! neoplasm of retromolar area
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0004683
name: obsolete Evans' syndrome
is_obsolete: true
replaced_by: MONDO:0016030

[Term]
id: MONDO:0004684
name: plantar fibromatosis
def: "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." [NCIT:C4680]
subset: gard_rare {source="GARD:6873", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199251"}
subset: orphanet_rare {source="Orphanet:199251"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dupuytren's contracture of foot" EXACT [DOID:8936]
synonym: "Ledderhose's disease" EXACT [DOID:8936, NCIT:C4680]
synonym: "Lederhose disease" EXACT [GARD:0006873]
synonym: "plantar fascial fibromatosis" RELATED [DOID:8936]
synonym: "plantar fibromatosis" EXACT [NCIT:C4680, Orphanet:199251]
synonym: "plantar part of pes superficial Fibromatosis" EXACT [MONDO:patterns/location]
synonym: "plantar part of pes superficial fibromatosis" EXACT [MONDO:patterns/location]
synonym: "superficial fibromatosis of plantar part of pes" EXACT [MONDO:design_pattern]
xref: DOID:8936 {source="MONDO:equivalentTo"}
xref: EFO:1000481 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6873 {source="MONDO:GARD"}
xref: ICD10CM:M72.2 {source="Orphanet:199251/e", source="DOID:8936", source="Orphanet:199251"}
xref: ICD9:728.71 {source="DOID:8936", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10035154 {source="Orphanet:199251/e", source="Orphanet:199251"}
xref: MEDGEN:56385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537000 {source="Orphanet:199251/e", source="DOID:8936", source="MONDO:equivalentTo", source="Orphanet:199251"}
xref: NCIT:C4680 {source="EFO:1000481", source="DOID:8936", source="MONDO:equivalentTo"}
xref: Orphanet:199251 {source="MONDO:equivalentTo"}
xref: SCTID:13370002 {source="DOID:8936", source="MONDO:equivalentTo"}
xref: SCTID:202882003 {source="MONDO:relatedTo", source="DOID:8936"}
xref: SCTID:240032001 {source="DOID:8936"}
xref: UMLS:C0158360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56385"}
is_a: MONDO:0003900 {source="DOID:8936", source="MONDO:Redundant"} ! connective tissue disorder
is_a: MONDO:0016037 {source="MONDO:Redundant", source="NCIT:C4680", source="Orphanet:199251"} ! superficial Fibromatosis
intersection_of: MONDO:0016037 ! superficial Fibromatosis
intersection_of: disease_has_location UBERON:0008338 ! plantar part of pes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4451" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease" xsd:anyURI {source="GARD:0006873"}

[Term]
id: MONDO:0004685
name: Waldeyer's ring cancer
def: "A malignant neoplasm involving the tonsillar ring." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of tonsillar ring" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of tonsillar ring" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of Waldeyer's ring" EXACT [DOID:8937]
synonym: "malignant tonsillar ring neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of Waldeyer's ring" EXACT [DOID:8937]
synonym: "malignant tumour of Waldeyer's ring" EXACT OMO:0003005 []
synonym: "tonsillar ring cancer" EXACT [MONDO:patterns/location]
synonym: "Waldeyer ring cancer" EXACT [DOID:8937]
xref: DOID:8937 {source="MONDO:equivalentTo"}
xref: ICD10CM:C14.2 {source="MONDO:equivalentTo", source="DOID:8937"}
xref: ICD9:149.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8937"}
xref: MEDGEN:509279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187716008 {source="MONDO:equivalentTo", source="DOID:8937"}
xref: SCTID:94144008 {source="DOID:8937"}
xref: UMLS:C0153406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509279"}
is_a: MONDO:0004608 {source="DOID:8937"} ! oropharynx cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001735 ! tonsillar ring

[Term]
id: MONDO:0004686
name: lattice corneal dystrophy
comment: Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial amyloid neuropathy, Finnish type" EXACT [DOID:8943]
synonym: "lattice corneal dystrophy" EXACT [MONDO:ambiguous]
synonym: "lattice corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:8943 {source="MONDO:equivalentTo"}
xref: HP:0001149 {source="MONDO:otherHierarchy"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:357.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537935 {source="DOID:8943"}
xref: SCTID:1192004 {source="MONDO:equivalentTo"}
xref: UMLS:C0155127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56355"}
is_a: MONDO:0020213 ! stromal corneal dystrophy
relationship: excluded_subClassOf MONDO:0000764 {source="DOID:8943", source="https://orcid.org/0000-0001-5208-3432"} ! epithelial-stromal TGFBI dystrophy
property_value: IAO:0000589 "lattice corneal dystrophy (disease)" xsd:string

[Term]
id: MONDO:0004687
name: severe nonproliferative diabetic retinopathy
synonym: "high risk non proliferative diabetic retinopathy" EXACT [DOID:8946]
synonym: "severe nonproliferative diabetic retinopathy" EXACT []
synonym: "severe nonproliferative retinopathy" RELATED []
synonym: "severe NPDR" EXACT [DOID:8946]
synonym: "severe npdr" RELATED []
xref: DOID:8946 {source="MONDO:equivalentTo"}
xref: ICD9:362.06 {source="MONDO:equivalentTo", source="DOID:8946", source="MONDO:i2s"}
xref: MEDGEN:676487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:312905005 {source="MONDO:equivalentTo", source="DOID:8946"}
xref: SCTID:390720006 {source="DOID:8946"}
xref: SCTID:391178000 {source="DOID:8946"}
xref: UMLS:C0730278 {source="MEDGEN:676487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001661 ! background diabetic retinopathy
is_a: MONDO:0005266 {source="DOID:8946"} ! diabetic retinopathy

[Term]
id: MONDO:0004688
name: obsolete sideroblastic anemia
is_obsolete: true
replaced_by: MONDO:0015194

[Term]
id: MONDO:0004689
name: inborn metal metabolism disorder
def: "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." [DOID:896, http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "metal metabolism disorder" BROAD [DOID:896]
synonym: "metal metabolism, inborn error" RELATED [MESH:D008664]
xref: DOID:896 {source="MONDO:equivalentTo"}
xref: MEDGEN:6325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008664 {source="DOID:896", source="MONDO:equivalentTo"}
xref: UMLS:C0025534 {source="MEDGEN:6325", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="DOID:896", source="MESH:D008664"} ! inborn errors of metabolism

[Term]
id: MONDO:0004690
name: tonsillar fossa cancer
def: "A cancer involving a tonsillar fossa." [MONDO:patterns/cancer]
synonym: "cancer of tonsillar fossa" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of tonsillar fossa" EXACT [MONDO:patterns/cancer]
synonym: "malignant tonsillar fossa neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of tonsillar fossa" EXACT [DOID:8969, MTH:U001012]
synonym: "malignant tumour of tonsillar fossa" EXACT OMO:0003005 []
synonym: "tonsillar fossa cancer" EXACT [MONDO:patterns/location]
xref: DOID:8969 {source="MONDO:equivalentTo"}
xref: ICD10CM:C09.0 {source="DOID:8969", source="MONDO:equivalentTo"}
xref: ICD9:146.1 {source="DOID:8969", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187680001 {source="DOID:8969"}
xref: SCTID:363394001 {source="DOID:8969", source="MONDO:equivalentTo"}
xref: SCTID:94102002 {source="DOID:8969"}
xref: UMLS:C0153384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509269"}
is_a: MONDO:0006998 {source="ICD10CM:C09.0", source="MONDO:Redundant"} ! tonsil cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0035228 ! tonsillar fossa

[Term]
id: MONDO:0004691
name: autosomal dominant polycystic kidney disease
def: "Autosomal dominant form of polycystic kidney disease." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/autosomal_dominant]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:828"}
subset: ordo_disorder {source="Orphanet:730"}
subset: orphanet_rare {source="Orphanet:730"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADPKD" EXACT ABBREVIATION [Orphanet:730]
synonym: "autosomal dominant polycystic kidney disease" EXACT CLINGEN_LABEL []
synonym: "congenital biliary ectasias" RELATED [DOID:898]
synonym: "polycystic kidney and hepatic disease 1" RELATED EXCLUDE [DOID:898]
synonym: "polycystic kidney disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:898 {source="MONDO:equivalentTo"}
xref: EFO:1001496 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10413 {source="MONDO:GARD"}
xref: ICD10CM:Q61.3 {source="DOID:898"}
xref: icd11.foundation:91220434 {source="Orphanet:730", source="MONDO:equivalentTo"}
xref: ICD9:753.12 {source="DOID:898"}
xref: ICD9:753.13 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:88404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007690 {source="DOID:898"}
xref: MESH:D016891 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2212"}
xref: NANDO:1200368 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200153 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75464 {source="DOID:898"}
xref: NCIT:C84578 {source="MONDO:equivalentTo"}
xref: NORD:828 {source="MONDO:NORD"}
xref: Orphanet:730 {source="DOID:898", source="MONDO:equivalentTo"}
xref: SCTID:156973002 {source="DOID:898"}
xref: SCTID:204954005 {source="DOID:898"}
xref: SCTID:204955006 {source="DOID:898"}
xref: SCTID:204956007 {source="DOID:898"}
xref: SCTID:268233005 {source="DOID:898"}
xref: SCTID:268332003 {source="DOID:898"}
xref: SCTID:765330003 {source="MONDO:equivalentTo"}
xref: SCTID:82525005 {source="DOID:898"}
xref: UMLS:C0085413 {source="MEDGEN:88404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:898", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005240 {source="DOID:898", source="EFO:1001496/inferred", source="NCIT:C84578/inferred"} ! kidney disorder
is_a: MONDO:0019741 {source="EFO:1001496", source="MONDO:Redundant", source="Orphanet:730"} ! familial cystic renal disease
is_a: MONDO:0020642 {source="NCIT:C84578"} ! polycystic kidney disease
intersection_of: MONDO:0020642 {source="NCIT:C84578"} ! polycystic kidney disease
intersection_of: has_characteristic HP:0000006 {source="NCIT:C84578"} ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="Orphanet:730"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0004692
name: obsolete choledochal cyst
is_obsolete: true
replaced_by: MONDO:0018805

[Term]
id: MONDO:0004693
name: squamous carcinoma in situ
def: "A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues." [NCIT:C27093]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma in situ of cervix" NARROW [DOID:8991]
synonym: "carcinoma in situ of uterine cervix" NARROW [DOID:8991, MONDO:patterns/carcinoma_in_situ, MTH:NOCODE]
synonym: "carcinoma, squamous cell, in situ, malignant" EXACT [NCIT:C27093]
synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" NARROW [DOID:8991]
synonym: "cervix Ca in situ" NARROW [DOID:8991]
synonym: "CIN III" NARROW [DOID:8991]
synonym: "CIN III - carcinoma in situ of cervix" NARROW [DOID:8991]
synonym: "CIN III - severe dyskaryosis" NARROW [DOID:8991]
synonym: "epidermoid carcinoma in situ" EXACT [NCIT:C27093]
synonym: "epidermoid cell carcinoma in situ" EXACT [NCIT:C27093]
synonym: "grade 3 SIN" EXACT [NCIT:C27093]
synonym: "grade 3 squamous intraepithelial neoplasia" EXACT [NCIT:C27093]
synonym: "grade III SIN" EXACT [NCIT:C27093]
synonym: "grade III squamous intraepithelial neoplasia" EXACT [NCIT:C27093]
synonym: "intraepithelial squamous cell carcinoma" EXACT [NCIT:C27093]
synonym: "severe dysplasia of cervix" NARROW [DOID:8991]
synonym: "severe dysplasia of the cervix uteri" NARROW [DOID:8991, NCIT:C4000]
synonym: "squamous carcinoma in situ" EXACT [NCIT:C27093]
synonym: "squamous cell carcinoma in situ" EXACT [NCIT:C27093]
synonym: "squamous cell carcinoma in-situ" EXACT [NCIT:C27093]
synonym: "squamous intraepithelial neoplasia, grade III" NARROW [DOID:8991]
synonym: "stage 0 squamous cell carcinoma" EXACT [NCIT:C27093]
synonym: "stage 0 uterine cervix carcinoma" NARROW [MONDO:patterns/carcinoma_in_situ]
synonym: "uterine cervix in situ carcinoma" NARROW [MONDO:patterns/location]
xref: ICDO:8070/2 {source="NCIT:C27093"}
xref: ICDO:8077/2 {source="NCIT:C27093"}
xref: MEDGEN:83116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27093 {source="MONDO:equivalentTo"}
xref: UMLS:C0334245 {source="MEDGEN:83116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="MONDO:Redundant", source="NCIT:C27093"} ! in situ carcinoma
is_a: MONDO:0005096 {source="MONDO:Redundant", source="NCIT:C27093"} ! squamous cell carcinoma
intersection_of: MONDO:0004647 {source="NCIT:C27093"} ! in situ carcinoma
intersection_of: MONDO:0005096 {source="NCIT:C27093"} ! squamous cell carcinoma

[Term]
id: MONDO:0004694
name: hepatopulmonary syndrome
def: "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." [https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome]
subset: otar {source="MONDO:OTAR"}
xref: DOID:900 {source="MONDO:equivalentTo"}
xref: EFO:1001346 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K76.81 {source="DOID:900", source="MONDO:equivalentTo"}
xref: ICD9:417.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:573.5 {source="DOID:900"}
xref: MEDGEN:109071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020065 {source="DOID:900", source="MONDO:equivalentTo"}
xref: SCTID:371067004 {source="DOID:900", source="MONDO:equivalentTo"}
xref: UMLS:C0600452 {source="MEDGEN:109071", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005154 {source="DOID:900", source="MESH:D020065"} ! liver disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome" xsd:anyURI {source="GARD:0013384"}

[Term]
id: MONDO:0004695
name: liver lymphoma
def: "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma." [NCIT:C4949]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hepatic lymphoma" EXACT [NCIT:C4949]
synonym: "liver lymphoma" EXACT [MONDO:patterns/location, NCIT:C4949]
synonym: "lymphoma of liver" EXACT [DOID:901, NCIT:C4949]
synonym: "lymphoma of the liver" EXACT [NCIT:C4949]
synonym: "primary hepatic lymphoma" EXACT [NCIT:C4949]
synonym: "primary liver lymphoma" EXACT [NCIT:C4949]
xref: DOID:901 {source="MONDO:equivalentTo"}
xref: MEDGEN:207276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4949 {source="DOID:901", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1112746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:207276"}
is_a: MONDO:0002691 {source="DOID:901", source="MONDO:Redundant", source="NCIT:C4949/inferred"} ! liver cancer
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4949"} ! gastrointestinal lymphoma
is_a: MONDO:0005062 {source="DOID:901", source="MONDO:Redundant", source="NCIT:C4949/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0004696
name: larynx carcinoma in situ
def: "A in situ carcinoma that involves the larynx." [MONDO:patterns/location]
synonym: "carcinoma in situ of larynx" EXACT [DOID:9011, MONDO:patterns/carcinoma_in_situ, NCIT:C9100]
synonym: "carcinoma in situ of the larynx" EXACT [NCIT:C9100]
synonym: "laryngeal cancer stage 0" EXACT [NCIT:C9100]
synonym: "laryngeal carcinoma in situ" EXACT [NCIT:C9100]
synonym: "laryngeal carcinoma stage 0" EXACT [NCIT:C9100]
synonym: "larynx carcinoma in situ" EXACT [NCIT:C9100]
synonym: "larynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of larynx" EXACT [NCIT:C9100]
synonym: "stage 0 carcinoma of the larynx" EXACT [DOID:9011, NCIT:C9100]
synonym: "stage 0 laryngeal cancer" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal cancer aJCC v6" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal cancer aJCC v6, v7, and V8" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal cancer aJCC v7" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal cancer aJCC v8" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal carcinoma" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal carcinoma in situ" EXACT [NCIT:C9100]
synonym: "stage 0 laryngeal throat cancer" EXACT [NCIT:C9100]
synonym: "stage 0 larynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9100]
xref: DOID:9011 {source="MONDO:equivalentTo"}
xref: ICD10CM:D02.0 {source="MONDO:equivalentTo", source="DOID:9011"}
xref: ICD9:231.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9011"}
xref: MEDGEN:56336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9100 {source="MONDO:equivalentTo", source="DOID:9011"}
xref: SCTID:189261004 {source="DOID:9011"}
xref: SCTID:92634009 {source="MONDO:equivalentTo", source="DOID:9011"}
xref: UMLS:C0154069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56336"}
is_a: MONDO:0004647 {source="DOID:9011", source="MONDO:Redundant", source="NCIT:C9100"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0004697
name: esophageal leukoplakia
def: "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "esophageal epidermoid metaplasia" EXACT [NCIT:C3953]
synonym: "esophageal leukoplakia" EXACT [MONDO:ambiguous]
synonym: "esophageal leukoplakia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "esophagus leukoplakia" EXACT [NCIT:C3953]
synonym: "leukoplakia of esophagus" EXACT [DOID:9021]
synonym: "leukoplakia of oesophagus" EXACT OMO:0003005 []
synonym: "leukoplakia of the esophagus" EXACT [NCIT:C3953]
synonym: "leukoplakia of the oesophagus" EXACT OMO:0003005 []
synonym: "oesophagus leukoplakia" EXACT OMO:0003005 []
xref: DOID:9021 {source="MONDO:equivalentTo"}
xref: HP:0012859 {source="MONDO:otherHierarchy"}
xref: ICD9:530.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9021"}
xref: MEDGEN:75628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3953 {source="MONDO:equivalentTo", source="DOID:9021"}
xref: SCTID:89057003 {source="MONDO:equivalentTo", source="DOID:9021"}
xref: UMLS:C0267095 {source="MEDGEN:75628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="DOID:9021", source="MONDO:Redundant"} ! esophageal disorder
is_a: MONDO:0043243 {source="MONDO:Redundant", source="NCIT:C3953"} ! leukoplakia
intersection_of: MONDO:0043243 ! leukoplakia
intersection_of: disease_has_location UBERON:0001043 ! esophagus
property_value: IAO:0000589 "esophageal leukoplakia (disease)" xsd:string

[Term]
id: MONDO:0004698
name: intestine carcinoma in situ
def: "A carcinoma in situ involving a intestine." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of intestine" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "intestine in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 intestine carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:9024 {source="MONDO:equivalentTo"}
xref: ICD10CM:D01.4 {source="DOID:9024"}
xref: ICD9:230.7 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:9024"}
xref: MEDGEN:672856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190172008 {source="DOID:9024"}
xref: SCTID:92617001 {source="MONDO:equivalentTo"}
xref: UMLS:C0685941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:672856"}
is_a: MONDO:0004647 {source="DOID:9024", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0004699
name: gastrointestinal lymphoma
def: "A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "digestive system lymphoma" EXACT [MONDO:patterns/location, NCIT:C38162]
synonym: "gastrointestinal lymphoma" EXACT [NCIT:C38162]
synonym: "lymphoma of digestive system" EXACT [MONDO:design_pattern]
synonym: "primary digestive system lymphoma" EXACT [NCIT:C38162]
synonym: "primary gastrointestinal lymphoma" EXACT [NCIT:C38162]
xref: DOID:903 {source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:148147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38162 {source="DOID:903", source="MONDO:equivalentTo"}
xref: SCTID:449072004 {source="DOID:903", source="MONDO:equivalentTo"}
xref: UMLS:C0740372 {source="MEDGEN:148147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002516 {source="DOID:903", source="NCIT:C38162"} ! digestive system cancer
is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C38162/inferred"} ! lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001007 ! digestive system

[Term]
id: MONDO:0004700
name: parotid gland cancer
def: "A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma." [NCIT:C3525]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of parotid" EXACT [NCIT:C3525]
synonym: "cancer of parotid gland" EXACT [DOID:9036, MONDO:patterns/cancer, NCIT:C3525]
synonym: "cancer of the parotid" EXACT [NCIT:C3525]
synonym: "cancer of the parotid gland" EXACT [NCIT:C3525]
synonym: "malignant neoplasm of parotid" EXACT [NCIT:C3525]
synonym: "malignant neoplasm of parotid gland" EXACT [MONDO:patterns/cancer, NCIT:C3525]
synonym: "malignant neoplasm of the parotid" EXACT [DOID:9036, NCIT:C3525]
synonym: "malignant neoplasm of the parotid gland" EXACT [NCIT:C3525]
synonym: "malignant parotid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3525]
synonym: "malignant parotid gland tumor" EXACT [NCIT:C3525]
synonym: "malignant parotid gland tumour" EXACT OMO:0003005 []
synonym: "malignant parotid neoplasm" EXACT [NCIT:C3525]
synonym: "malignant parotid tumor" EXACT [NCIT:C3525]
synonym: "malignant parotid tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of parotid" EXACT [NCIT:C3525]
synonym: "malignant tumor of parotid gland" EXACT [NCIT:C3525]
synonym: "malignant tumor of the parotid" EXACT [NCIT:C3525]
synonym: "malignant tumor of the parotid gland" EXACT [NCIT:C3525]
synonym: "malignant tumour of parotid" EXACT OMO:0003005 []
synonym: "malignant tumour of parotid gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the parotid" EXACT OMO:0003005 []
synonym: "malignant tumour of the parotid gland" EXACT OMO:0003005 []
synonym: "parotid cancer" EXACT [DOID:9036]
synonym: "parotid gland cancer" EXACT [MONDO:patterns/location, NCIT:C3525]
xref: DOID:9036 {source="MONDO:equivalentTo"}
xref: ICD10CM:C07 {source="DOID:9036"}
xref: ICD9:142.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9036"}
xref: MEDGEN:152885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010307 {source="MONDO:equivalentTo", source="DOID:9036"}
xref: NCIT:C3525 {source="MONDO:equivalentTo", source="DOID:9036"}
xref: SCTID:363379000 {source="MONDO:equivalentTo", source="DOID:9036"}
xref: SCTID:93949007 {source="DOID:9036"}
xref: UMLS:C0747273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152885"}
is_a: MONDO:0004669 {source="DOID:9036", source="MESH:D010307", source="MONDO:Entailed", source="NCIT:C3525", source="NCIT:C3525/inferred"} ! salivary gland cancer
is_a: MONDO:0005899 {source="DOID:9036", source="MESH:D010307", source="MONDO:Redundant", source="MONDO:indirect"} ! parotid disorder
is_a: MONDO:0021243 {source="MONDO:Redundant", source="NCIT:C3525"} ! parotid gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0004701
name: uterine polyp
def: "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial/uterine polyp" EXACT [DOID:9042]
synonym: "polyp of corpus uteri" EXACT [DOID:9042]
synonym: "polyp of endometrium" NARROW [DOID:9042, NCIT:C6433]
synonym: "polyp of the uterus" EXACT [DOID:9042, NCIT:C3662]
synonym: "polyp of uterus" EXACT [NCIT:C3662]
synonym: "polyp, uterus" EXACT [DOID:9042]
synonym: "uterine polyp" EXACT [NCIT:C3662]
synonym: "uterus polyp" EXACT [MONDO:patterns/location, NCIT:C3662]
xref: DOID:9042 {source="MONDO:equivalentTo"}
xref: EFO:0009484 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N84.0 {source="MONDO:equivalentTo", source="DOID:9042"}
xref: ICD9:621.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9042"}
xref: MEDGEN:57628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3662 {source="MONDO:equivalentTo", source="DOID:9042"}
xref: SCTID:11314008 {source="MONDO:equivalentTo", source="DOID:9042"}
xref: SCTID:266659005 {source="DOID:9042"}
xref: UMLS:C0156369 {source="MEDGEN:57628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:9042", source="MONDO:Redundant", source="NCIT:C3662"} ! uterine disorder
is_a: MONDO:0005079 {source="ICD10CM:N84.0", source="MONDO:Redundant", source="NCIT:C3662"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0000995 ! uterus

[Term]
id: MONDO:0004702
name: uterine cervix leukoplakia
def: "The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present." [NCIT:P378]
synonym: "cervical leukoplakia" EXACT [NCIT:C3976]
synonym: "cervix leukoplakia" EXACT [NCIT:C3976]
synonym: "cervix uteri leukoplakia" EXACT [NCIT:C3976]
synonym: "leukoplakia of cervix" EXACT [NCIT:C3976]
synonym: "leukoplakia of cervix (uteri)" EXACT [DOID:9043]
synonym: "leukoplakia of cervix uteri" EXACT [DOID:9043]
synonym: "leukoplakia of the cervix" EXACT [NCIT:C3976]
synonym: "leukoplakia of the cervix uteri" EXACT [NCIT:C3976]
synonym: "leukoplakia of the uterine cervix" EXACT [DOID:9043, NCIT:C3976]
synonym: "leukoplakia of uterine cervix" EXACT [NCIT:C3976]
xref: DOID:9043 {source="MONDO:equivalentTo"}
xref: ICD10CM:N88.0 {source="MONDO:equivalentTo", source="DOID:9043"}
xref: ICD9:622.2 {source="DOID:9043"}
xref: MEDGEN:124350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3976 {source="MONDO:equivalentTo", source="DOID:9043"}
xref: SCTID:50923006 {source="MONDO:equivalentTo", source="DOID:9043"}
xref: UMLS:C0269194 {source="MEDGEN:124350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002256 {source="DOID:9043", source="MONDO:Redundant"} ! cervix disorder
intersection_of: MONDO:0043243 ! leukoplakia
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0004703
name: bladder carcinoma in situ
def: "Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" [NCIT:C3644]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bladder Ca in situ" EXACT [DOID:9053]
synonym: "bladder flat carcinoma in situ" EXACT [NCIT:C3644]
synonym: "bladder flat CIS" EXACT [NCIT:C3644]
synonym: "cancer in situ of urinary bladder" BROAD [https://orcid.org/0000-0002-6601-2165]
synonym: "carcinoma in situ of bladder" EXACT [DOID:9053]
synonym: "carcinoma in situ of the urinary bladder" EXACT [NCIT:C3644]
synonym: "carcinoma in situ of urinary bladder" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3644]
synonym: "flat carcinoma in situ of the bladder" EXACT [NCIT:C3644]
synonym: "flat carcinoma in situ of the urinary bladder" EXACT [NCIT:C3644]
synonym: "flat CIS of the bladder" EXACT [NCIT:C3644]
synonym: "flat CIS of the urinary bladder" EXACT [DOID:9053, NCIT:C3644]
synonym: "high grade bladder Intraurothelial neoplasia" EXACT [NCIT:C3644]
synonym: "stage 0 urinary bladder carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0is bladder cancer" EXACT [NCIT:C3644]
synonym: "stage 0is bladder carcinoma" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial cancer" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial carcinoma" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial carcinoma aJCC v6" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial carcinoma aJCC v6 and v7" EXACT [NCIT:C3644]
synonym: "stage 0is bladder urothelial carcinoma aJCC v7" EXACT [NCIT:C3644]
synonym: "stage 0is carcinoma of bladder" EXACT [NCIT:C3644]
synonym: "stage 0is carcinoma of the bladder" EXACT [NCIT:C3644]
synonym: "stage 0is carcinoma of the urinary bladder" EXACT [NCIT:C3644]
synonym: "stage 0is carcinoma of urinary bladder" EXACT [NCIT:C3644]
synonym: "stage 0is urinary bladder carcinoma" EXACT [NCIT:C3644]
synonym: "urinary bladder carcinoma in situ" EXACT []
synonym: "urinary bladder flat carcinoma in situ" EXACT [NCIT:C3644]
synonym: "urinary bladder flat CIS" EXACT [NCIT:C3644]
synonym: "urinary bladder in situ carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:9053 {source="MONDO:equivalentTo"}
xref: ICD10CM:D09.0 {source="MONDO:equivalentTo", source="DOID:9053"}
xref: ICD9:233.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9053"}
xref: MEDGEN:57584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3644 {source="MONDO:equivalentTo", source="DOID:9053"}
xref: SCTID:269650008 {source="DOID:9053"}
xref: SCTID:92546004 {source="MONDO:equivalentTo", source="DOID:9053"}
xref: UMLS:C0154091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57584"}
is_a: MONDO:0003930 {source="NCIT:C3644"} ! non-invasive bladder urothelial carcinoma
is_a: MONDO:0004647 {source="DOID:9053", source="MONDO:Redundant", source="NCIT:C3644"} ! in situ carcinoma
is_a: MONDO:0006111 {source="NCIT:C3644"} ! bladder flat intraepithelial lesion
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0004704
name: obsolete peroxisomal disease
is_obsolete: true
replaced_by: MONDO:0019053

[Term]
id: MONDO:0004705
name: liver solitary fibrous tumor
def: "A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort." [NCIT:C5752]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibroma of liver" EXACT [NCIT:C5752]
synonym: "fibroma of the liver" EXACT [DOID:907, NCIT:C5752]
synonym: "hepatic fibroma" EXACT [NCIT:C5752]
synonym: "liver fibroma" EXACT [MONDO:patterns/location, NCIT:C5752]
synonym: "liver localised fibrous mesothelioma" EXACT OMO:0003005 []
synonym: "liver localised fibrous tumour" EXACT OMO:0003005 []
synonym: "liver localized fibrous mesothelioma" EXACT [NCIT:C5752]
synonym: "liver localized fibrous tumor" EXACT [NCIT:C5752]
synonym: "liver solitary fibrous tumor" EXACT [NCIT:C5752]
xref: DOID:907 {source="MONDO:equivalentTo"}
xref: MEDGEN:232273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5752 {source="MONDO:equivalentTo", source="DOID:907"}
xref: UMLS:C1333965 {source="MEDGEN:232273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005154 {source="DOID:907", source="DOID:907/inferred", source="MONDO:Redundant", source="NCIT:C5752/inferred"} ! liver disorder
is_a: MONDO:0005167 {source="DOID:907", source="MONDO:Entailed"} ! fibroma
is_a: MONDO:0016238 {source="MONDO:Redundant", source="NCIT:C5752"} ! solitary fibrous tumor
is_a: MONDO:0024477 {source="DOID:907", source="MONDO:Entailed", source="MONDO:Redundant"} ! liver and intrahepatic bile duct neoplasm
intersection_of: MONDO:0016238 ! solitary fibrous tumor
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0004706
name: discoid lupus erythematosus of eyelid
xref: DOID:9076 {source="MONDO:equivalentTo"}
xref: ICD10CM:H01.12 {source="DOID:9076"}
xref: ICD9:373.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9076"}
xref: MEDGEN:509835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:79291003 {source="MONDO:equivalentTo", source="DOID:9076"}
xref: UMLS:C0155180 {source="MEDGEN:509835", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002137 {source="DOID:9076"} ! noninfectious dermatoses of eyelid

[Term]
id: MONDO:0004707
name: anal canal carcinoma in situ
def: "A carcinoma in situ involving a anal canal." [MONDO:patterns/carcinoma_in_situ]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anal canal in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "anal carcinoma in situ" RELATED [DOID:9087]
synonym: "anal carcinoma stage 0" EXACT [DOID:9087, NCIT:C7794]
synonym: "anal intraepithelial neoplasia grade III" EXACT [DOID:9087]
synonym: "carcinoma in situ of anal canal" EXACT [DOID:9087, ICD9CM:230.5, MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of anus" EXACT [DOID:9087]
synonym: "stage 0 anal canal cancer" EXACT [NCIT:C7794]
synonym: "stage 0 anal canal cancer aJCC v6" EXACT [NCIT:C7794]
synonym: "stage 0 anal canal cancer aJCC v6 and v7" EXACT [NCIT:C7794]
synonym: "stage 0 anal canal cancer aJCC v7" EXACT [NCIT:C7794]
synonym: "stage 0 anal canal carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 anal canal carcinoma aJCC v6 and v7" EXACT [NCIT:C7794]
synonym: "stage 0 anal carcinoma aJCC v6 and v7" EXACT [NCIT:C7794]
synonym: "stage 0 anal carcinoma in situ" EXACT [NCIT:C7794]
xref: DOID:9087 {source="MONDO:equivalentTo"}
xref: ICD9:230.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:230.6 {source="DOID:9087"}
xref: MEDGEN:1615824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7794 {source="MONDO:equivalentTo"}
xref: SCTID:189233005 {source="DOID:9087"}
xref: SCTID:20365006 {source="DOID:9087"}
xref: SCTID:401311008 {source="DOID:9087"}
xref: SCTID:92531006 {source="MONDO:equivalentTo"}
xref: SCTID:92537005 {source="DOID:9087"}
xref: UMLS:C4521060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615824"}
is_a: MONDO:0007108 {source="MONDO:Redundant", source="NCIT:C7794/inferred"} ! anal canal carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000159 ! anal canal

[Term]
id: MONDO:0004708
name: esophagus carcinoma in situ
def: "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma in situ of esophagus" EXACT [DOID:9095, MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of oesophagus" EXACT OMO:0003005 []
synonym: "esophageal carcinoma in situ" EXACT [NCIT:C89771]
synonym: "esophageal carcinoma in situ aJCC v7" EXACT [NCIT:C89771]
synonym: "esophagus in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "oesophagus in situ carcinoma" EXACT OMO:0003005 []
synonym: "severe esophageal dysplasia" EXACT [DOID:9095, NCIT:C89771]
synonym: "severe esophageal dysplasia aJCC v7" EXACT [NCIT:C89771]
synonym: "stage 0 carcinoma of the esophagus" EXACT [DOID:9095, NCIT:C3637]
synonym: "stage 0 carcinoma of the oesophagus" EXACT OMO:0003005 []
synonym: "stage 0 esophageal cancer" EXACT [NCIT:C89771]
synonym: "stage 0 esophageal cancer aJCC v7" EXACT [NCIT:C89771]
synonym: "stage 0 esophageal carcinoma in situ" EXACT [NCIT:C89771]
synonym: "stage 0 esophagus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 oesophagus carcinoma" EXACT OMO:0003005 []
xref: DOID:9095 {source="MONDO:equivalentTo"}
xref: ICD10CM:D00.1 {source="MONDO:equivalentTo", source="DOID:9095"}
xref: ICD9:230.1 {source="MONDO:equivalentTo", source="DOID:9095", source="MONDO:i2s"}
xref: MEDGEN:56332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C89771 {source="MONDO:equivalentTo", source="DOID:9095"}
xref: SCTID:189217007 {source="DOID:9095"}
xref: SCTID:308860001 {source="DOID:9095"}
xref: SCTID:92585006 {source="MONDO:equivalentTo", source="DOID:9095"}
xref: UMLS:C0154059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56332"}
is_a: MONDO:0004647 {source="DOID:9095", source="MONDO:Redundant", source="NCIT:C89771/inferred"} ! in situ carcinoma
is_a: MONDO:0019086 {source="MONDO:Redundant", source="NCIT:C89771/inferred"} ! carcinoma of esophagus
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0004709
name: occipital lobe neoplasm
def: "A neoplasm involving a occipital lobe." [MONDO:patterns/neoplasm]
synonym: "malignant neoplasm of occipital lobe" EXACT [DOID:910]
synonym: "neoplasm of occipital lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5574]
synonym: "neoplasm of the occipital lobe" EXACT [NCIT:C5574]
synonym: "occipital lobe neoplasm" EXACT [NCIT:C5574]
synonym: "occipital lobe neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "occipital lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5574]
synonym: "occipital lobe tumour" EXACT OMO:0003005 []
synonym: "tumor of occipital lobe" EXACT [DOID:910, MONDO:patterns/neoplasm, NCIT:C5574]
synonym: "tumor of the occipital lobe" EXACT [NCIT:C5574]
synonym: "tumour of occipital lobe" EXACT OMO:0003005 []
synonym: "tumour of the occipital lobe" EXACT OMO:0003005 []
xref: DOID:910 {source="MONDO:equivalentTo"}
xref: ICD10CM:C71.4 {source="DOID:910", source="MONDO:equivalentTo"}
xref: ICD9:191.4 {source="DOID:910"}
xref: MEDGEN:220389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5574 {source="DOID:910", source="MONDO:equivalentTo"}
xref: SCTID:126957005 {source="DOID:910", source="MONDO:equivalentTo"}
xref: SCTID:363470000 {source="DOID:910"}
xref: SCTID:93928006 {source="DOID:910"}
xref: UMLS:C1263889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220389"}
is_a: MONDO:0005560 {source="DOID:910/inferred", source="MONDO:Redundant"} ! brain disorder
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C5574"} ! neoplasm of cerebral hemisphere
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002021 ! occipital lobe

[Term]
id: MONDO:0004710
name: uterus carcinoma in situ
def: "A carcinoma in situ involving a uterus." [MONDO:patterns/carcinoma_in_situ]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma in situ of uterus" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 uterus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "uterus in situ carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:9108 {source="MONDO:equivalentTo"}
xref: ICD9:233.2 {source="DOID:9108", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:673127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:189342001 {source="DOID:9108"}
xref: SCTID:269492005 {source="DOID:9108"}
xref: SCTID:92788005 {source="MONDO:equivalentTo"}
xref: UMLS:C0686237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:673127"}
is_a: MONDO:0004647 {source="DOID:9108", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000995 ! uterus

[Term]
id: MONDO:0004711
name: obsolete amyloidosis
synonym: "obsolete amyloidosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete amyloidosis (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0019065

[Term]
id: MONDO:0004712
name: herpes simplex dermatitis
def: "Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection." [NCIT:C35620]
synonym: "eczema herpeticum" RELATED [DOID:9123]
synonym: "eczema herpeticum (disorder) [ambiguous]" EXACT [DOID:9123]
synonym: "Herpes simplex dermatitis" EXACT [NCIT:C35620]
synonym: "herpes simplex dermatitis" EXACT [DOID:9123]
synonym: "Herpes simplex dermatitis of eyelid" NARROW [DOID:9123]
synonym: "Herpes simplex eyelid dermatitis" NARROW [DOID:9123]
synonym: "Herpes simplex virus dermatitis" EXACT [DOID:9123]
synonym: "herpes simplex virus eyelid dermatitis" NARROW [DOID:9123]
synonym: "Simplexvirus caused dermatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus dermatitis" EXACT []
xref: DOID:9123 {source="MONDO:equivalentTo"}
xref: ICD10CM:B00.0 {source="MONDO:equivalentTo", source="DOID:9123"}
xref: ICD9:054.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9123"}
xref: ICD9:054.41 {source="DOID:9123"}
xref: MEDGEN:163132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007617 {source="MONDO:equivalentTo", source="DOID:9123"}
xref: NCIT:C35620 {source="MONDO:equivalentTo", source="DOID:9123"}
xref: SCTID:186535001 {source="MONDO:equivalentTo", source="DOID:9123"}
xref: SCTID:186544000 {source="DOID:9123"}
xref: SCTID:38875006 {source="DOID:9123"}
xref: SCTID:52464003 {source="DOID:9123"}
xref: UMLS:C0854331 {source="MEDGEN:163132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="MONDO:Redundant", source="NCIT:C35620"} ! dermatitis
is_a: MONDO:0004609 {source="DOID:9123", source="ICD10CM:B00.0", source="MESH:D007617", source="MONDO:Entailed", source="MONDO:Redundant"} ! herpes simplex infectious disease
is_a: MONDO:0005093 {source="DOID:9123", source="MESH:D007617/inferred", source="MONDO:Redundant", source="NCIT:C35620/inferred"} ! skin disorder
is_a: MONDO:0021201 {source="MONDO:Redundant", source="NCIT:C35620"} ! skin infection
intersection_of: MONDO:0002406 ! dermatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10294 ! disease has primary infectious agent Simplexvirus

[Term]
id: MONDO:0004713
name: lower gum cancer
def: "A cancer involving a gingiva of lower jaw." [MONDO:patterns/cancer]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of gingiva of lower jaw" EXACT [MONDO:patterns/cancer]
synonym: "gingiva of lower jaw cancer" EXACT [MONDO:patterns/location]
synonym: "malignant gingiva of lower jaw neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of gingiva of lower jaw" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of lower gingiva" EXACT [DOID:9125]
synonym: "malignant tumor of lower gum" EXACT [DOID:9125]
synonym: "malignant tumour of lower gingiva" EXACT OMO:0003005 []
synonym: "malignant tumour of lower gum" EXACT OMO:0003005 []
xref: DOID:9125 {source="MONDO:equivalentTo"}
xref: ICD10CM:C03.1 {source="DOID:9125"}
xref: ICD9:143.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9125"}
xref: MEDGEN:609602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363384006 {source="MONDO:equivalentTo", source="DOID:9125"}
xref: SCTID:93873003 {source="DOID:9125"}
xref: UMLS:C0432581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609602"}
is_a: MONDO:0005507 {source="DOID:9125", source="MONDO:Redundant"} ! gingival cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0011602 ! gingiva of lower jaw

[Term]
id: MONDO:0004714
name: atrophic muscular disease
def: "A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "atrophic muscular disorder" EXACT [NCIT:C84574]
xref: DOID:913 {source="MONDO:equivalentTo"}
xref: MEDGEN:156267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020966 {source="DOID:913"}
xref: NCIT:C84574 {source="MONDO:equivalentTo", source="DOID:913"}
xref: UMLS:C0752352 {source="MONDO:equivalentTo", source="MEDGEN:156267", source="MONDO:MEDGEN"}
is_a: MONDO:0003939 {source="DOID:913"} ! muscle tissue disorder
is_a: MONDO:0019056 {source="DOID:913"} ! neuromuscular disease

[Term]
id: MONDO:0004715
name: liver carcinoma in situ
def: "A carcinoma in situ involving a liver." [MONDO:patterns/carcinoma_in_situ]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma in situ of liver" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of liver and biliary system" EXACT [DOID:9132]
synonym: "carcinoma in situ of liver, gallbladder and bile ducts" EXACT [DOID:9132, MTH:U001402]
synonym: "liver in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 liver carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:9132 {source="MONDO:equivalentTo"}
xref: ICD10CM:D01.5 {source="MONDO:equivalentTo", source="DOID:9132"}
xref: ICD9:230.8 {source="DOID:9132"}
xref: MEDGEN:577201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:189241005 {source="DOID:9132"}
xref: SCTID:189247009 {source="DOID:9132"}
xref: SCTID:271525004 {source="DOID:9132"}
xref: SCTID:92644006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345908 {source="MEDGEN:577201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="DOID:9132", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0004716
name: stomach carcinoma in situ
def: "A in situ carcinoma that involves the stomach." [MONDO:patterns/location]
synonym: "carcinoma in situ of stomach" EXACT [DOID:9138, MONDO:patterns/carcinoma_in_situ, NCIT:C7788]
synonym: "carcinoma in situ of the stomach" EXACT [NCIT:C7788]
synonym: "carcinoma of stomach stage 0" EXACT [NCIT:C7788]
synonym: "carcinoma of the stomach stage 0" EXACT [NCIT:C7788]
synonym: "gastric carcinoma in situ" EXACT [DOID:9138, NCIT:C7788]
synonym: "gastric carcinoma stage 0" EXACT [NCIT:C7788]
synonym: "gastric carcinoma, stage 0" EXACT [NCIT:C7788]
synonym: "stage 0 carcinoma of stomach" EXACT [NCIT:C7788]
synonym: "stage 0 carcinoma of the stomach" EXACT [NCIT:C7788]
synonym: "stage 0 gastric (stomach) cancer" EXACT [NCIT:C7788]
synonym: "stage 0 gastric cancer" EXACT [NCIT:C7788]
synonym: "stage 0 gastric cancer aJCC v6" EXACT [NCIT:C7788]
synonym: "stage 0 gastric cancer aJCC v6 and v7" EXACT [NCIT:C7788]
synonym: "stage 0 gastric cancer aJCC v7" EXACT [NCIT:C7788]
synonym: "stage 0 gastric carcinoma" EXACT [NCIT:C7788]
synonym: "stage 0 gastric carcinoma in situ" EXACT [NCIT:C7788]
synonym: "stage 0 stomach cancer" EXACT [NCIT:C7788]
synonym: "stage 0 stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C7788]
synonym: "stomach carcinoma in situ" EXACT [NCIT:C7788]
synonym: "stomach carcinoma stage 0" EXACT [NCIT:C7788]
synonym: "stomach in situ carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:9138 {source="MONDO:equivalentTo"}
xref: ICD10CM:D00.2 {source="DOID:9138", source="MONDO:equivalentTo"}
xref: ICD9:230.2 {source="DOID:9138", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7788 {source="DOID:9138", source="MONDO:equivalentTo"}
xref: SCTID:189223002 {source="DOID:9138"}
xref: SCTID:92756002 {source="DOID:9138", source="MONDO:equivalentTo"}
xref: UMLS:C0154060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56333"}
is_a: MONDO:0004647 {source="DOID:9138", source="MONDO:Redundant", source="NCIT:C7788/inferred"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0004717
name: peliosis hepatis
def: "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs." [MESH:D010382]
subset: otar {source="MONDO:OTAR"}
synonym: "hepatic peliosis" EXACT [DOID:914]
xref: DOID:914 {source="MONDO:equivalentTo"}
xref: EFO:1001387 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K76.4 {source="DOID:914", source="MONDO:equivalentTo"}
xref: MEDGEN:10618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010382 {source="DOID:914", source="MONDO:equivalentTo"}
xref: SCTID:197366003 {source="DOID:914"}
xref: SCTID:240625009 {source="DOID:914"}
xref: SCTID:58008004 {source="DOID:914", source="MONDO:equivalentTo"}
xref: UMLS:C0030781 {source="MEDGEN:10618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002405 {source="DOID:914"} ! hepatic vascular disorder

[Term]
id: MONDO:0004718
name: xeroderma of eyelid
xref: DOID:9140 {source="MONDO:equivalentTo"}
xref: ICD10CM:H01.14 {source="DOID:9140"}
xref: ICD9:373.33 {source="DOID:9140", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:55846006 {source="DOID:9140", source="MONDO:equivalentTo"}
xref: UMLS:C0155179 {source="MEDGEN:509834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002137 {source="DOID:9140"} ! noninfectious dermatoses of eyelid

[Term]
id: MONDO:0004719
name: hard palate cancer
def: "A malignant neoplasm involving the hard palate." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of hard palate" EXACT [MONDO:patterns/cancer]
synonym: "hard palate" EXACT [DOID:9149, NCIT:C12230]
synonym: "hard palate cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hard palate neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant hard palate tumor" EXACT [NCIT:C3528]
synonym: "malignant hard palate tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of hard palate" EXACT [DOID:9149, MONDO:patterns/cancer, MTH:U001235]
synonym: "malignant neoplasm of the hard palate" EXACT [NCIT:C3528]
synonym: "malignant tumor of hard palate" EXACT [DOID:9149, NCIT:C3528]
synonym: "malignant tumor of the hard palate" EXACT [DOID:9149, NCIT:C3528]
synonym: "malignant tumour of hard palate" EXACT OMO:0003005 []
synonym: "malignant tumour of the hard palate" EXACT OMO:0003005 []
xref: DOID:9149 {source="MONDO:equivalentTo"}
xref: ICD10CM:C05.0 {source="DOID:9149", source="MONDO:equivalentTo"}
xref: ICD9:145.2 {source="DOID:9149", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3528 {source="DOID:9149", source="MONDO:equivalentTo"}
xref: SCTID:363387004 {source="DOID:9149", source="MONDO:equivalentTo"}
xref: SCTID:93822006 {source="DOID:9149"}
xref: UMLS:C0153375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57551"}
is_a: MONDO:0005515 {source="DOID:9149", source="MONDO:Redundant", source="NCIT:C3528/inferred"} ! oral cavity cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003216 ! hard palate

[Term]
id: MONDO:0004720
name: variola minor infection
def: "A orthopoxvirus that causes a milder clinical syndrome than smallpox." [NCIT:P378]
synonym: "alastrim" EXACT [DOID:9153]
synonym: "cottonpox" EXACT [DOID:9153]
synonym: "milkpox" EXACT [DOID:9153]
synonym: "Variola minor" EXACT [DOID:9153]
synonym: "whitepox" EXACT [DOID:9153]
xref: DOID:9153 {source="MONDO:equivalentTo"}
xref: ICD9:050.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9153"}
xref: MEDGEN:1393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012899 {source="DOID:9153"}
xref: NCIT:C34365 {source="MONDO:equivalentTo", source="DOID:9153"}
xref: SCTID:72294005 {source="MONDO:equivalentTo", source="DOID:9153"}
xref: UMLS:C0001906 {source="MEDGEN:1393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004651 {source="DOID:9153", source="NCIT:C34365"} ! smallpox
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:53258 ! disease has primary infectious agent Variola minor virus

[Term]
id: MONDO:0004721
name: obsolete liver neoplasm
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024477

[Term]
id: MONDO:0004722
name: obsolete Wiskott-Aldrich syndrome
is_obsolete: true
replaced_by: MONDO:0010518

[Term]
id: MONDO:0004723
name: liver leiomyoma
def: "A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5753]
synonym: "hepatic leiomyoma" EXACT [NCIT:C5753]
synonym: "leiomyoma of liver" EXACT [NCIT:C5753]
synonym: "leiomyoma of the liver" EXACT [DOID:917, NCIT:C5753]
synonym: "liver leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5753]
xref: DOID:917 {source="MONDO:equivalentTo"}
xref: MEDGEN:232276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5753 {source="MONDO:equivalentTo", source="DOID:917", source="MONDO:exact-label-match"}
xref: UMLS:C1333968 {source="MEDGEN:232276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001572 {source="DOID:917", source="MONDO:Redundant", source="NCIT:C5753"} ! leiomyoma
is_a: MONDO:0005154 {source="DOID:917", source="DOID:917/inferred", source="MONDO:Redundant", source="NCIT:C5753/inferred"} ! liver disorder
is_a: MONDO:0024477 {source="DOID:917", source="MONDO:Entailed", source="MONDO:Redundant"} ! liver and intrahepatic bile duct neoplasm
is_a: MONDO:0859689 {source="https://orcid.org/0000-0001-8134-3037"} ! hepatobiliary benign neoplasm
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0002107 ! liver
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7300" xsd:anyURI

[Term]
id: MONDO:0004724
name: submandibular gland cancer
def: "A malignant neoplasm involving the submandibular gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of submandibular gland" EXACT [MONDO:patterns/cancer]
synonym: "carcinoma of submandibular gland" EXACT [NCIT:C8396]
synonym: "carcinoma of the submandibular gland" EXACT [NCIT:C8396]
synonym: "malignant neoplasm of submandibular gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of submaxillary gland" EXACT [DOID:9173]
synonym: "malignant submandibular gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of submandibular gland" EXACT [DOID:9173]
synonym: "malignant tumor of the submandibular gland" EXACT [DOID:9173, NCIT:C3526]
synonym: "malignant tumour of submandibular gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the submandibular gland" EXACT OMO:0003005 []
synonym: "submandibular gland cancer" EXACT [MONDO:patterns/location, NCIT:C8396]
synonym: "submandibular gland carcinoma" EXACT [NCIT:C8396]
xref: DOID:9173 {source="MONDO:equivalentTo"}
xref: ICD10CM:C08.0 {source="DOID:9173"}
xref: ICD9:142.1 {source="DOID:9173", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3526 {source="DOID:9173"}
xref: NCIT:C8396 {source="MONDO:equivalentTo"}
xref: SCTID:363380002 {source="DOID:9173", source="MONDO:equivalentTo"}
xref: SCTID:94077005 {source="DOID:9173"}
xref: UMLS:C0153360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57782"}
is_a: MONDO:0001597 {source="DOID:9173", source="MONDO:Redundant", source="MONDO:indirect"} ! submandibular gland disorder
is_a: MONDO:0004669 {source="DOID:9173", source="MONDO:Redundant", source="NCIT:C8396/inferred"} ! salivary gland cancer
is_a: MONDO:0006284 {source="NCIT:C8396"} ! major salivary gland carcinoma
is_a: MONDO:0021244 {source="MONDO:Redundant", source="NCIT:C8396/inferred"} ! submandibular gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001736 ! submandibular gland

[Term]
id: MONDO:0004725
name: rectum carcinoma in situ
def: "A in situ carcinoma that involves the rectum." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma in situ of rectum" EXACT [DOID:9174, MONDO:patterns/carcinoma_in_situ, NCIT:C4853]
synonym: "carcinoma in situ of the rectum" EXACT [NCIT:C4853]
synonym: "marked dysplasia of rectum" EXACT [NCIT:C4853]
synonym: "marked dysplasia of the rectum" EXACT [NCIT:C4853]
synonym: "marked rectal dysplasia" EXACT [NCIT:C4853]
synonym: "rectal carcinoma in situ" EXACT [NCIT:C4853]
synonym: "rectum in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "severe dysplasia of rectum" EXACT [DOID:9174, NCIT:C4853]
synonym: "severe dysplasia of the rectum" EXACT [NCIT:C4853]
synonym: "severe rectal dysplasia" EXACT [DOID:9174, NCIT:C4853]
synonym: "stage 0 carcinoma of rectum" EXACT [NCIT:C4853]
synonym: "stage 0 carcinoma of the rectum" EXACT [NCIT:C4853]
synonym: "stage 0 rectal cancer" EXACT [NCIT:C4853]
synonym: "stage 0 rectal cancer aJCC v6" EXACT [NCIT:C4853]
synonym: "stage 0 rectal cancer aJCC v6 and v7" EXACT [NCIT:C4853]
synonym: "stage 0 rectal cancer aJCC v7" EXACT [NCIT:C4853]
synonym: "stage 0 rectal carcinoma" EXACT [NCIT:C4853]
synonym: "stage 0 rectum carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:9174 {source="MONDO:equivalentTo"}
xref: ICD10CM:D01.2 {source="MONDO:equivalentTo", source="DOID:9174"}
xref: ICD9:230.4 {source="DOID:9174"}
xref: MEDGEN:56335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4853 {source="MONDO:equivalentTo", source="DOID:9174"}
xref: SCTID:308879003 {source="MONDO:equivalentTo", source="DOID:9174"}
xref: SCTID:92696009 {source="DOID:9174"}
xref: UMLS:C0154062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56335"}
is_a: MONDO:0006519 {source="MONDO:Entailed", source="NCIT:C4853/inferred"} ! rectal cancer
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0004726
name: liver inflammatory myofibroblastic tumor
def: "A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C5858]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hepatic inflammatory myofibroblastic tumor" EXACT [NCIT:C5858]
synonym: "hepatic inflammatory myofibroblastic tumour" EXACT OMO:0003005 []
synonym: "inflammatory pseudotumor of liver" RELATED [NCIT:C5858]
synonym: "inflammatory pseudotumor of the liver" RELATED [DOID:918, NCIT:C5858]
synonym: "liver inflammatory myofibroblastic tumor" EXACT [MONDO:0006269, MONDO:patterns/location, NCIT:C5858]
synonym: "liver inflammatory pseudotumor" BROAD [NCIT:C5858]
xref: DOID:918 {source="MONDO:equivalentTo"}
xref: MEDGEN:232275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5858 {source="MONDO:equivalentTo", source="EFO:1000324", source="DOID:918"}
xref: SCTID:717329009 {source="MONDO:equivalentTo"}
xref: UMLS:C1333967 {source="MEDGEN:232275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000324", source="EFO:1000324/inferred", source="MONDO:Redundant", source="NCIT:C5858/inferred"} ! neoplasm
is_a: MONDO:0005154 {source="DOID:918", source="EFO:1000324/inferred", source="MONDO:Redundant", source="NCIT:C5858/inferred"} ! liver disorder
is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C5858"} ! inflammatory myofibroblastic tumor
intersection_of: MONDO:0015798 {source="NCIT:C5858"} ! inflammatory myofibroblastic tumor
intersection_of: disease_has_location UBERON:0002107 {source="NCIT:C5858"} ! liver

[Term]
id: MONDO:0004727
name: vestibule of mouth cancer
def: "A cancer that involves the oral opening." [MONDO:patterns/location]
synonym: "cancer of oral opening" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of oral opening" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of vestibule of mouth" EXACT [DOID:9188]
synonym: "malignant oral opening neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of vestibule of mouth" EXACT [DOID:9188, MTH:U001025]
synonym: "malignant tumour of vestibule of mouth" EXACT OMO:0003005 []
synonym: "oral opening cancer" EXACT [MONDO:patterns/location]
xref: DOID:9188 {source="MONDO:equivalentTo"}
xref: ICD10CM:C06.1 {source="MONDO:equivalentTo", source="DOID:9188"}
xref: ICD9:145.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9188"}
xref: MEDGEN:509267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187658004 {source="MONDO:equivalentTo", source="DOID:9188"}
xref: SCTID:187664006 {source="DOID:9188"}
xref: SCTID:94138009 {source="DOID:9188"}
xref: UMLS:C0153374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509267"}
is_a: MONDO:0005515 {source="DOID:9188"} ! oral cavity cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000166 ! oral opening

[Term]
id: MONDO:0004728
name: diabetic macular edema
subset: otar {source="MONDO:OTAR"}
xref: DOID:9191 {source="MONDO:equivalentTo"}
xref: EFO:0009321 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:362.07 {source="DOID:9191", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:676494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:312912001 {source="DOID:9191", source="MONDO:equivalentTo"}
xref: UMLS:C0730285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:676494"}
is_a: MONDO:0005266 {source="DOID:9191"} ! diabetic retinopathy

[Term]
id: MONDO:0004729
name: dyskinesia of esophagus
def: "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." [MESH:D015154]
synonym: "dyskinesia of esophagus" EXACT [DOID:9192]
synonym: "esophageal dysmotility" EXACT [DOID:9192]
synonym: "esophageal motility disorder" EXACT [DOID:9192, MTH:NOCODE]
synonym: "oesophageal dysmotility" EXACT [DOID:9192]
synonym: "oesophageal motor disorder" EXACT [DOID:9192]
xref: DOID:9192 {source="MONDO:equivalentTo"}
xref: ICD10CM:K22.4 {source="DOID:9192", source="MONDO:equivalentTo"}
xref: ICD9:530.5 {source="DOID:9192"}
xref: MEDGEN:41868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015154 {source="DOID:9192", source="MONDO:equivalentTo"}
xref: SCTID:196614005 {source="DOID:9192"}
xref: SCTID:266434009 {source="DOID:9192", source="MONDO:equivalentTo"}
xref: SCTID:40846004 {source="DOID:9192"}
xref: SCTID:61100004 {source="DOID:9192"}
xref: SCTID:79962008 {source="DOID:9192"}
xref: UMLS:C0014858 {source="MONDO:equivalentTo", source="MEDGEN:41868", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="DOID:9192", source="MESH:D015154/inferred"} ! esophageal disorder

[Term]
id: MONDO:0004730
name: speech disorder
def: "A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "speech impediment or impairment" EXACT [NCIT:C5041]
xref: DOID:92 {source="MONDO:equivalentTo"}
xref: ICD9:784.40 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:784.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013064 {source="MONDO:equivalentTo", source="DOID:92"}
xref: NCIT:C5041 {source="MONDO:equivalentTo", source="DOID:92"}
xref: SCTID:47004009 {source="MONDO:equivalentTo"}
xref: UMLS:C0037822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11531"}
is_a: MONDO:0002182 {source="DOID:92", source="MESH:D013064/inferred", source="NCIT:C5041"} ! communication disorder

[Term]
id: MONDO:0004731
name: central sleep apnea syndrome
def: "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health." [NCIT:C27169]
subset: otar {source="MONDO:OTAR"}
synonym: "alveolar hypoventilation, central" RELATED [MESH:D020182]
synonym: "alveolar hypoventilations, central" RELATED [MESH:D020182]
synonym: "apnea, central" RELATED [MESH:D020182]
synonym: "apnea, central sleep" RELATED [MESH:D020182]
synonym: "apnea, sleep, central" RELATED [MESH:D020182]
synonym: "Apneas, central" RELATED [MESH:D020182]
synonym: "Apneas, central sleep" RELATED [MESH:D020182]
synonym: "breathing, central sleep-disordered" RELATED [MESH:D020182]
synonym: "Breathings, central sleep-disordered" RELATED [MESH:D020182]
synonym: "central alveolar hypoventilation" RELATED [MESH:D020182]
synonym: "central alveolar hypoventilation syndrome" RELATED [MESH:D020182]
synonym: "central apnea" RELATED [MESH:D020182]
synonym: "central Apneas" RELATED [MESH:D020182]
synonym: "central sleep apnea" RELATED [MESH:D020182]
synonym: "central sleep apnea syndrome" EXACT [DOID:9220, MESH:D020182, NCIT:C27169]
synonym: "central sleep apnea, primary" NARROW [MESH:D020182]
synonym: "central sleep apnea, secondary" RELATED [MESH:D020182]
synonym: "central sleep Apneas" RELATED [MESH:D020182]
synonym: "central sleep disordered breathing" RELATED [MESH:D020182]
synonym: "central sleep-disordered breathing" RELATED [MESH:D020182]
synonym: "central sleep-disordered Breathings" RELATED [MESH:D020182]
synonym: "hypoventilation, central alveolar" RELATED [MESH:D020182]
synonym: "hypoventilations, central alveolar" RELATED [MESH:D020182]
synonym: "ondine syndrome" RELATED [MESH:D020182]
synonym: "primary central sleep apnea" NARROW [DOID:9220]
synonym: "secondary central sleep apnea" NARROW [MESH:D020182]
synonym: "sleep apnea, lethal central" RELATED [MESH:D020182]
synonym: "sleep Apneas, central" RELATED [MESH:D020182]
synonym: "sleep disordered breathing, central" RELATED [MESH:D020182]
synonym: "sleep-disordered breathing, central" RELATED [MESH:D020182]
synonym: "sleep-disordered Breathings, central" RELATED [MESH:D020182]
xref: DOID:9220 {source="MONDO:equivalentTo"}
xref: ICD10CM:G47.31 {source="DOID:9220"}
xref: ICD9:327.21 {source="DOID:9220"}
xref: MEDGEN:854402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020182 {source="MONDO:equivalentTo", source="DOID:9220"}
xref: NCIT:C27169 {source="MONDO:equivalentTo"}
xref: SCTID:27405005 {source="MONDO:equivalentTo"}
xref: SCTID:9741000119101 {source="DOID:9220"}
xref: UMLS:C3887547 {source="MEDGEN:854402", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C27169"} ! syndromic disease
is_a: MONDO:0005296 {source="DOID:9220", source="MESH:D020182"} ! sleep apnea syndrome

[Term]
id: MONDO:0004732
name: kidney carcinoma in situ
def: "A carcinoma in situ involving a kidney." [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of kidney" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "kidney in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 kidney carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:9234 {source="MONDO:equivalentTo"}
xref: ICD10CM:D09.1 {source="DOID:9234"}
xref: ICD9:233.9 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:9234"}
xref: MEDGEN:673070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190185006 {source="DOID:9234"}
xref: SCTID:92624000 {source="MONDO:equivalentTo"}
xref: UMLS:C0686172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:673070"}
is_a: MONDO:0004647 {source="DOID:9234", source="MONDO:Redundant"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0004733
name: pyriform sinus cancer
def: "A primary or metastatic malignant neoplasm that affects the pyriform sinus." [NCIT:P378]
synonym: "malignant neoplasm of pyriform fossa" EXACT [DOID:9235]
synonym: "malignant neoplasm of pyriform sinus" EXACT [NCIT:C3531]
synonym: "malignant neoplasm of the pyriform fossa" EXACT [DOID:9235, NCIT:C3531]
synonym: "malignant neoplasm of the pyriform sinus" EXACT [NCIT:C3531]
synonym: "malignant pyriform fossa neoplasm" EXACT [NCIT:C3531]
synonym: "malignant pyriform fossa tumor" EXACT [NCIT:C3531]
synonym: "malignant pyriform fossa tumour" EXACT OMO:0003005 []
synonym: "malignant pyriform sinus neoplasm" EXACT [NCIT:C3531]
synonym: "malignant pyriform sinus tumor" EXACT [NCIT:C3531]
synonym: "malignant pyriform sinus tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of pyriform fossa" EXACT [NCIT:C3531]
synonym: "malignant tumor of pyriform sinus" EXACT [NCIT:C3531]
synonym: "malignant tumor of the pyriform fossa" EXACT [NCIT:C3531]
synonym: "malignant tumor of the pyriform sinus" EXACT [NCIT:C3531]
synonym: "malignant tumour of pyriform fossa" EXACT OMO:0003005 []
synonym: "malignant tumour of pyriform sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the pyriform fossa" EXACT OMO:0003005 []
synonym: "malignant tumour of the pyriform sinus" EXACT OMO:0003005 []
xref: DOID:9235 {source="MONDO:equivalentTo"}
xref: ICD10CM:C12 {source="MONDO:equivalentTo", source="DOID:9235"}
xref: ICD9:148.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9235"}
xref: MEDGEN:102267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3531 {source="MONDO:equivalentTo", source="DOID:9235"}
xref: SCTID:363401000 {source="MONDO:equivalentTo", source="DOID:9235"}
xref: SCTID:93978008 {source="DOID:9235"}
xref: UMLS:C0153400 {source="MEDGEN:102267", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005806 {source="DOID:9235", source="NCIT:C3531"} ! hypopharynx cancer

[Term]
id: MONDO:0004734
name: obsolete erythromelalgia
is_obsolete: true
replaced_by: MONDO:0016028

[Term]
id: MONDO:0004735
name: obsolete Alagille syndrome
is_obsolete: true

[Term]
id: MONDO:0004736
name: inborn disorder of amino acid metabolism
def: "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." [NCIT:P378]
subset: gard_rare {source="GARD:6770", source="MONDO:GARD"}
subset: rare
synonym: "amino acid metabolic disorder" RELATED [DOID:9252]
synonym: "amino acid metabolism, inborn errors" RELATED [GARD:0006770]
synonym: "inborn amino acid metabolism disorder" RELATED [GARD:0006770]
synonym: "inborn cellular amino acid metabolic process disorder" EXACT []
synonym: "inborn error of amino acid metabolism" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of cellular amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn errors of amino acid metabolism" EXACT [DOID:9252]
synonym: "inherited amino acid metabolic disorder" EXACT []
synonym: "rare inborn error of cellular amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:9252 {source="MONDO:equivalentTo"}
xref: GARD:6770 {source="MONDO:GARD"}
xref: ICD10CM:E72.9 {source="DOID:9252"}
xref: ICD9:270 {source="DOID:9252"}
xref: ICD9:270.9 {source="DOID:9252"}
xref: MEDGEN:1867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000592 {source="MONDO:equivalentTo", source="DOID:9252"}
xref: NCIT:C97090 {source="MONDO:equivalentTo", source="DOID:9252"}
xref: SCTID:42930003 {source="MONDO:equivalentTo", source="DOID:9252"}
xref: UMLS:C0002514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1867"}
is_a: MONDO:0019052 {source="DOID:9252", source="MESH:D000592", source="MONDO:indirect"} ! inborn errors of metabolism
intersection_of: MONDO:0037871 ! amino acid metabolism disease
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0004737
name: homocystinuria
def: "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." [NCIT:P378]
subset: gard_rare {source="GARD:10770", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CBS deficiency" NARROW [DOID:9263]
synonym: "cystathionine beta synthase deficiency" NARROW [DOID:9263]
synonym: "cystathionine synthase deficiency" NARROW [DOID:9263]
synonym: "homocystinuria" EXACT [MONDO:ambiguous]
synonym: "homocystinuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:9263 {source="MONDO:equivalentTo"}
xref: GARD:10770 {source="MONDO:GARD"}
xref: HP:0002156 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E72.11 {source="MONDO:equivalentTo", source="DOID:9263"}
xref: MEDGEN:42485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006712 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:9263"}
xref: NANDO:1201038 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200474 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84765 {source="MONDO:equivalentTo", source="DOID:9263"}
xref: Orphanet:394 {source="DOID:9263"}
xref: SCTID:11282001 {source="MONDO:equivalentTo", source="DOID:9263"}
xref: SCTID:190709008 {source="DOID:9263"}
xref: UMLS:C0019880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42485"}
intersection_of: MONDO:0004736 ! inborn disorder of amino acid metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0050667 ! homocysteine metabolic process
property_value: IAO:0000589 "homocystinuria (disease)" xsd:string

[Term]
id: MONDO:0004738
name: obsolete histidine metabolism disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5364" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019228

[Term]
id: MONDO:0004739
name: urea cycle disorder
def: "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:7837", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79167"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [DOID:9267]
synonym: "disorder of urea cycle metabolism" EXACT [DOID:9267, ICD9CM:270.6]
synonym: "disorder of urea cycle metabolism and ammonia detoxification" RELATED [Orphanet:79167]
synonym: "inborn disorder of urea cycle metabolism and ammonia detoxification" EXACT [MONDO:0019217]
synonym: "inborn urea cycle disorder" EXACT [NCIT:C84785]
synonym: "UCD" RELATED ABBREVIATION [GARD:0007837]
synonym: "urea cycle defect" EXACT [DOID:9267]
synonym: "urea cycle disorders" EXACT [GARD:0007837]
synonym: "urea cycle metabolism disorder" EXACT [NCIT:C84785]
xref: DOID:9267 {source="MONDO:equivalentTo"}
xref: GARD:7837 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:79167/attributed", source="Orphanet:79167/ntbt", source="DOID:9267", source="Orphanet:79167"}
xref: ICD10CM:E72.20 {source="DOID:9267"}
xref: ICD9:270.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9267"}
xref: MEDGEN:57586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056806 {source="MONDO:equivalentTo", source="DOID:9267"}
xref: NANDO:1200802 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84785 {source="MONDO:equivalentTo", source="DOID:9267"}
xref: Orphanet:79167 {source="MONDO:equivalentTo"}
xref: SCTID:36444000 {source="MONDO:equivalentTo", source="DOID:9267"}
xref: UMLS:C0154246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57586"}
is_a: MONDO:0004736 {source="DOID:9267", source="MESH:D056806", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019052 {source="DOID:9267/inferred", source="MESH:D056806/inferred", source="MONDO:Redundant", source="NCIT:C84785"} ! inborn errors of metabolism
is_a: MONDO:0019189 {source="Orphanet:79167"} ! inborn disorder of amino acid and other organic acid metabolism
intersection_of: MONDO:0004736 ! inborn disorder of amino acid metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0000050 ! urea cycle
relationship: disease_has_basis_in_disruption_of GO:0000050 ! urea cycle

[Term]
id: MONDO:0004740
name: obsolete hyperlysinemia
is_obsolete: true
replaced_by: MONDO:0009388

[Term]
id: MONDO:0004741
name: tyrosinemia
def: "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:9275 {source="MONDO:equivalentTo"}
xref: ICD10CM:E70.21 {source="MONDO:equivalentTo", source="DOID:9275"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020176 {source="MONDO:equivalentTo", source="DOID:9275"}
xref: NCIT:C98640 {source="MONDO:equivalentTo", source="DOID:9275"}
xref: OMIMPS:276700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:190694001 {source="MONDO:equivalentTo", source="DOID:9275"}
xref: UMLS:C0268483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78682"}
is_a: MONDO:0004736 {source="DOID:9275", source="MESH:D020176", source="MONDO:Entailed", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0017307 {source="MONDO:Redundant"} ! disorder of tyrosine metabolism
intersection_of: MONDO:0004736 ! inborn disorder of amino acid metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006572 ! tyrosine catabolic process
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:276700"} ! inherited

[Term]
id: MONDO:0004742
name: primary cerebellar degeneration
def: "A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked." [MESH:D013132]
xref: DOID:9277 {source="MONDO:equivalentTo"}
xref: ICD9:334.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9277"}
xref: MEDGEN:19466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013132 {source="DOID:9277"}
xref: SCTID:192868000 {source="DOID:9277"}
xref: SCTID:192872001 {source="DOID:9277"}
xref: SCTID:23732000 {source="MONDO:equivalentTo", source="DOID:9277"}
xref: UMLS:C0033132 {source="MEDGEN:19466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="DOID:9277", source="MONDO:0004742/inferred"} ! neurodegenerative disease
is_a: MONDO:0022687 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebellar degeneration

[Term]
id: MONDO:0004743
name: hyperhomocysteinemia
def: "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." [NCIT:P378]
subset: gard_rare {source="GARD:8230", source="MONDO:GARD"}
subset: rare
synonym: "homocysteinemia" EXACT [OMIM:603174]
synonym: "hyperhomocysteinemia" EXACT [OMIM:603174]
xref: DOID:9279 {source="MONDO:equivalentTo"}
xref: GARD:8230 {source="MONDO:GARD"}
xref: MEDGEN:108623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020138 {source="MONDO:equivalentTo", source="DOID:9279"}
xref: NCIT:C84770 {source="MONDO:equivalentTo", source="DOID:9279"}
xref: OMIM:603174 {source="MONDO:equivalentTo"}
xref: SCTID:419503008 {source="MONDO:equivalentTo", source="DOID:9279"}
xref: UMLS:C0598608 {source="MEDGEN:108623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:603174"} ! hereditary disease
is_a: MONDO:0004737 {source="MONDO:Redundant", source="NCIT:C84770"} ! homocystinuria
intersection_of: MONDO:0004736 ! inborn disorder of amino acid metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0050667 ! homocysteine metabolic process
intersection_of: disease_has_feature HP:0002160 ! Hyperhomocystinemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3247" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia" xsd:anyURI {source="GARD:0008230"}

[Term]
id: MONDO:0004744
name: borderline glaucoma
synonym: "Preglaucoma" EXACT [DOID:9283]
xref: DOID:9283 {source="MONDO:equivalentTo"}
xref: ICD10CM:H40.00 {source="DOID:9283"}
xref: ICD9:365.00 {source="DOID:9283", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:735885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193531003 {source="MONDO:equivalentTo"}
xref: SCTID:193532005 {source="DOID:9283"}
xref: SCTID:359633007 {source="DOID:9283"}
xref: SCTID:47891005 {source="DOID:9283"}
xref: UMLS:C1533674 {source="MEDGEN:735885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005041 {source="DOID:9283"} ! glaucoma

[Term]
id: MONDO:0004745
name: priapism
def: "Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications." [NCIT:P378]
subset: gard_rare {source="GARD:19933", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140949"}
subset: orphanet_rare {source="Orphanet:140949"}
subset: rare
synonym: "low-flow priapism" NARROW [Orphanet:140949]
synonym: "mentulagra" EXACT [DOID:9286]
xref: DOID:9286 {source="MONDO:equivalentTo"}
xref: GARD:19933 {source="MONDO:GARD"}
xref: ICD10CM:N48.3 {source="MONDO:equivalentTo", source="DOID:9286"}
xref: ICD10CM:N48.30 {source="DOID:9286"}
xref: ICD9:607.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9286"}
xref: MEDGEN:19462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011317 {source="MONDO:equivalentTo", source="DOID:9286"}
xref: NCIT:C85022 {source="MONDO:otherHierarchy", source="DOID:9286"}
xref: Orphanet:140949 {source="MONDO:equivalentTo"}
xref: SCTID:155930001 {source="DOID:9286"}
xref: SCTID:198027001 {source="DOID:9286"}
xref: SCTID:4287008 {source="DOID:9286"}
xref: SCTID:6273006 {source="MONDO:equivalentTo", source="DOID:9286"}
xref: UMLS:C0033117 {source="MEDGEN:19462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005294 {source="DOID:9286"} ! peripheral vascular disease
relationship: disease_disrupts GO:0043084 ! penile erection

[Term]
id: MONDO:0004746
name: myopathy of extraocular muscle
def: "A myopathy that involves the extra-ocular muscle." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "extra-ocular muscle myopathy" EXACT [MONDO:patterns/location]
synonym: "myopathy of extra-ocular muscle" EXACT [MONDO:design_pattern]
synonym: "myopathy of extraocular muscles" EXACT [DOID:929]
xref: DOID:929 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.82 {source="DOID:929"}
xref: ICD9:376.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:929"}
xref: MEDGEN:509895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:57130002 {source="MONDO:equivalentTo", source="DOID:929"}
xref: UMLS:C0155286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509895"}
is_a: MONDO:0005336 {source="DOID:929", source="MONDO:Redundant"} ! myopathy
is_a: MONDO:0020120 {source="MONDO:Redundant"} ! skeletal muscle disorder
intersection_of: MONDO:0005336 ! myopathy
intersection_of: disease_has_location UBERON:0001601 ! extra-ocular muscle

[Term]
id: MONDO:0004747
name: cleft lip
def: "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse." [NCIT:P378]
synonym: "cheiloschisis" EXACT [DOID:9296]
synonym: "cleft lip" EXACT [MONDO:ambiguous]
synonym: "cleft lip (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cleft lip, unilateral, complete" EXACT [DOID:9296, ICD9CM:749.11]
synonym: "complete unilateral cleft lip" EXACT [DOID:9296]
synonym: "hare lip" EXACT [DOID:9296]
synonym: "labium leporinum" EXACT [DOID:9296]
xref: DOID:9296 {source="MONDO:equivalentTo"}
xref: HP:0410030 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q36 {source="DOID:9296"}
xref: ICD10CM:Q36.9 {source="DOID:9296"}
xref: ICD9:749.1 {source="DOID:9296"}
xref: ICD9:749.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9296"}
xref: ICD9:749.11 {source="DOID:9296"}
xref: MEDGEN:1370297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002971 {source="MONDO:equivalentTo", source="DOID:9296"}
xref: NCIT:C87175 {source="MONDO:equivalentTo", source="DOID:9296"}
xref: SCTID:156941008 {source="DOID:9296"}
xref: SCTID:204606000 {source="DOID:9296"}
xref: SCTID:204609007 {source="DOID:9296"}
xref: SCTID:62696001 {source="DOID:9296"}
xref: SCTID:80281008 {source="MONDO:equivalentTo", source="DOID:9296"}
xref: UMLS:C4321245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1370297"}
is_a: MONDO:0000358 {source="DOID:9296"} ! orofacial cleft
property_value: IAO:0000589 "cleft lip (disease)" xsd:string

[Term]
id: MONDO:0004748
name: lip disorder
def: "A disease involving the lip." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of lip" EXACT [MONDO:patterns/location_top]
synonym: "disease of lips" EXACT [DOID:9297, ICD9CM:528.5]
synonym: "disease or disorder of lip" EXACT []
synonym: "disorder of lip" EXACT [MONDO:patterns/location_top]
synonym: "lip disease" EXACT [MONDO:patterns/location]
synonym: "lip disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lip disorder" EXACT [NCIT:C26818]
xref: DOID:9297 {source="MONDO:equivalentTo"}
xref: ICD10CM:K13.0 {source="DOID:9297"}
xref: ICD9:528.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9297"}
xref: MEDGEN:44166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008047 {source="MONDO:equivalentTo", source="DOID:9297"}
xref: NCIT:C26818 {source="MONDO:equivalentTo", source="DOID:9297"}
xref: SCTID:196563002 {source="DOID:9297"}
xref: SCTID:90678009 {source="MONDO:equivalentTo", source="DOID:9297"}
xref: UMLS:C0023760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44166"}
is_a: MONDO:0006858 {source="DOID:9297", source="MESH:D008047", source="MONDO:Redundant", source="NCIT:C26818"} ! mouth disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001833 ! lip

[Term]
id: MONDO:0004749
name: myocardium cancer
def: "A malignant neoplasm involving the myocardium." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of myocardium" EXACT [MONDO:patterns/cancer]
synonym: "malignant myocardial neoplasm" EXACT [NCIT:C4569]
synonym: "malignant myocardial tumor" EXACT [DOID:9299, NCIT:C4569]
synonym: "malignant myocardial tumour" EXACT OMO:0003005 []
synonym: "malignant myocardium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of myocardium" EXACT [DOID:9299, MONDO:patterns/cancer, NCIT:C4569]
synonym: "malignant neoplasm of the myocardium" EXACT [NCIT:C4569]
synonym: "malignant tumor of myocardium" EXACT [NCIT:C4569]
synonym: "malignant tumor of the myocardium" EXACT [NCIT:C4569]
synonym: "malignant tumour of myocardium" EXACT OMO:0003005 []
synonym: "malignant tumour of the myocardium" EXACT OMO:0003005 []
synonym: "myocardium cancer" EXACT [MONDO:patterns/location]
synonym: "tumor of myocardium" BROAD [DOID:9299, NCIT:C5349]
synonym: "tumour of myocardium" BROAD OMO:0003005 []
xref: DOID:9299 {source="MONDO:equivalentTo"}
xref: MEDGEN:138067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4569 {source="MONDO:equivalentTo", source="DOID:9299"}
xref: NCIT:C5349 {source="DOID:9299"}
xref: SCTID:126732009 {source="DOID:9299"}
xref: SCTID:363437005 {source="DOID:9299"}
xref: SCTID:93914000 {source="DOID:9299"}
xref: UMLS:C0346611 {source="MEDGEN:138067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001340 {source="DOID:9299", source="MONDO:Redundant", source="NCIT:C4569"} ! heart cancer
is_a: MONDO:0021380 {source="MONDO:Redundant", source="NCIT:C4569"} ! neoplasm of myocardium
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002349 ! myocardium

[Term]
id: MONDO:0004750
name: language disorder
def: "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:93 {source="MONDO:equivalentTo"}
xref: HP:0002463 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F80.9 {source="DOID:93"}
xref: MEDGEN:44069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007806 {source="MONDO:equivalentTo", source="DOID:93"}
xref: NCIT:C97155 {source="MONDO:equivalentTo", source="DOID:93"}
xref: SCTID:62305002 {source="DOID:93"}
xref: UMLS:C0023015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44069"}
is_a: MONDO:0002182 {source="DOID:93", source="MESH:D007806"} ! communication disorder

[Term]
id: MONDO:0004751
name: disease of orbital part of eye adnexa
def: "Diseases of the bony orbit and contents except the eyeball." [MESH:D009916]
comment: Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa
subset: otar {source="MONDO:OTAR"}
synonym: "orbital disease" RELATED [DOID:930]
xref: DOID:930 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05 {source="DOID:930"}
xref: ICD10CM:H05.9 {source="DOID:930"}
xref: ICD9:376 {source="DOID:930"}
xref: ICD9:376.9 {source="DOID:930"}
xref: MEDGEN:45214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009916 {source="DOID:930", source="MONDO:equivalentTo"}
xref: SCTID:11270005 {source="DOID:930"}
xref: SCTID:155200004 {source="DOID:930"}
xref: SCTID:194036005 {source="DOID:930"}
xref: SCTID:267746003 {source="DOID:930"}
xref: UMLS:C0029182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45214"}
is_a: MONDO:0000462 {source="DOID:930"} ! eye adnexa disorder

[Term]
id: MONDO:0004752
name: neurofibroma of the heart
def: "A rare neurofibroma that affects the heart." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cardiac neurofibroma" EXACT [NCIT:C5359]
synonym: "heart neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5359]
synonym: "neurofibroma of heart" EXACT [DOID:9300, NCIT:C5359]
synonym: "neurofibroma of the heart" EXACT [NCIT:C5359]
xref: DOID:9300 {source="MONDO:equivalentTo"}
xref: MEDGEN:242755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5359 {source="MONDO:equivalentTo", source="DOID:9300"}
xref: UMLS:C1096349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:242755"}
is_a: MONDO:0001340 {source="DOID:9300", source="MONDO:Entailed"} ! heart cancer
is_a: MONDO:0016755 {source="DOID:9300", source="MONDO:Redundant", source="NCIT:C5359"} ! neurofibroma
intersection_of: MONDO:0016755 ! neurofibroma
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0004753
name: mechanical strabismus
comment: May be ceded to HPO
xref: DOID:9306 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.6 {source="DOID:9306", source="MONDO:equivalentTo"}
xref: ICD10CM:H50.60 {source="DOID:9306"}
xref: ICD9:378.6 {source="DOID:9306"}
xref: ICD9:378.60 {source="DOID:9306", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013285 {source="DOID:9306"}
xref: SCTID:194121009 {source="DOID:9306"}
xref: SCTID:194124001 {source="DOID:9306"}
xref: SCTID:5371001 {source="DOID:9306", source="MONDO:equivalentTo"}
xref: UMLS:C0152223 {source="MEDGEN:101828", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003432 {source="DOID:9306"} ! strabismus

[Term]
id: MONDO:0004754
name: rectal prolapse
def: "Protrusion of the rectum through the anus." [NCIT:P378]
synonym: "procidentia, rectum" EXACT [DOID:9307]
synonym: "rectal prolapse" EXACT [MONDO:ambiguous]
synonym: "rectal prolapse (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:9307 {source="MONDO:equivalentTo"}
xref: HP:0002035 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K62.3 {source="DOID:9307", source="MONDO:equivalentTo"}
xref: ICD9:569.1 {source="DOID:9307"}
xref: MEDGEN:11151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012005 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:9307", source="MONDO:equivalentTo"}
xref: NCIT:C34973 {source="DOID:9307", source="MONDO:equivalentTo"}
xref: SCTID:155802002 {source="DOID:9307"}
xref: SCTID:197212009 {source="DOID:9307"}
xref: SCTID:197214005 {source="DOID:9307"}
xref: SCTID:197215006 {source="DOID:9307"}
xref: SCTID:57773001 {source="DOID:9307"}
xref: UMLS:C0034888 {source="MONDO:equivalentTo", source="MEDGEN:11151", source="MONDO:MEDGEN"}
is_a: MONDO:0001593 {source="DOID:9307"} ! rectal disorder
property_value: IAO:0000589 "rectal prolapse (disease)" xsd:string

[Term]
id: MONDO:0004755
name: monieziasis
def: "Infection of ruminants with tapeworms of the genus Moniezia." [MESH:D008989]
xref: DOID:931 {source="MONDO:equivalentTo"}
xref: MEDGEN:6424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008989 {source="DOID:931", source="MONDO:equivalentTo"}
xref: UMLS:C0026414 {source="MEDGEN:6424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:931", source="MESH:D008989/inferred"} ! helminthiasis

[Term]
id: MONDO:0004756
name: nasal cavity neoplasm
def: "A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C4413]
subset: otar {source="MONDO:OTAR"}
synonym: "nasal cavity neoplasm" EXACT [NCIT:C4413]
synonym: "nasal cavity neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nasal cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4413]
synonym: "nasal cavity tumour" EXACT OMO:0003005 []
synonym: "neoplasm of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413]
synonym: "neoplasm of the nasal cavity" EXACT [NCIT:C4413]
synonym: "tumor of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413]
synonym: "tumor of the nasal cavity" EXACT [DOID:9310, NCIT:C4413]
synonym: "tumour of nasal cavity" EXACT OMO:0003005 []
synonym: "tumour of the nasal cavity" EXACT OMO:0003005 []
xref: DOID:9310 {source="MONDO:equivalentTo"}
xref: MEDGEN:138023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4413 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:9310"}
xref: SCTID:126670003 {source="MONDO:equivalentTo", source="DOID:9310"}
xref: UMLS:C0345630 {source="MEDGEN:138023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002232 {source="DOID:9310", source="MONDO:Redundant", source="NCIT:C4413"} ! nasal cavity disorder
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4413/inferred"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0004757
name: chronic ethmoidal sinusitis
def: "Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:C34472]
synonym: "chronic ethmoid sinusitis" EXACT [DOID:9312]
synonym: "chronic ethmoidal sinusitis" EXACT [DOID:9312, NCIT:C34472]
synonym: "chronic ethmoiditis" RELATED [DOID:9312]
synonym: "ethmoid sinusitis, chronic" EXACT [MONDO:patterns/chronic]
synonym: "ethmoidal sinusitis - chronic" EXACT [DOID:9312]
xref: DOID:9312 {source="MONDO:equivalentTo"}
xref: ICD10CM:J32.2 {source="MONDO:equivalentTo", source="DOID:9312"}
xref: ICD9:473.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9312"}
xref: MEDGEN:3454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34472 {source="MONDO:equivalentTo", source="DOID:9312"}
xref: SCTID:155528009 {source="DOID:9312"}
xref: SCTID:266384001 {source="DOID:9312"}
xref: SCTID:73237007 {source="MONDO:equivalentTo", source="DOID:9312"}
xref: UMLS:C0008681 {source="MEDGEN:3454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005756 {source="DOID:9312", source="MONDO:Redundant", source="NCIT:C34472"} ! ethmoid sinusitis
is_a: MONDO:0006031 {source="MONDO:Redundant", source="NCIT:C34472"} ! chronic rhinosinusitis
intersection_of: MONDO:0005756 ! ethmoid sinusitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0004758
name: scotoma
def: "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions." [MESH:D012607]
synonym: "blind spot area scotoma" EXACT [DOID:9335]
synonym: "enlarged angioscotoma" EXACT [DOID:9335]
synonym: "enlarged blind spot" EXACT [DOID:9335]
synonym: "enlarged paracaecal scotoma" EXACT [DOID:9335]
synonym: "generalised visual field contraction or constriction" EXACT OMO:0003005 []
synonym: "generalized visual field contraction or constriction" EXACT [DOID:9335]
synonym: "scotoma" EXACT [MONDO:ambiguous]
synonym: "scotoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "scotoma of blind spot area" EXACT [DOID:9335, ICD9CM:368.42]
synonym: "sector or arcuate visual field defects" EXACT [DOID:9335]
xref: DOID:9335 {source="MONDO:equivalentTo"}
xref: HP:0000575 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H53.42 {source="DOID:9335"}
xref: ICD10CM:H53.43 {source="DOID:9335"}
xref: ICD10CM:H53.45 {source="DOID:9335"}
xref: ICD9:368.42 {source="DOID:9335"}
xref: ICD9:368.43 {source="DOID:9335"}
xref: ICD9:368.44 {source="DOID:9335"}
xref: ICD9:368.45 {source="DOID:9335"}
xref: MEDGEN:19902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012607 {source="MONDO:equivalentTo"}
xref: SCTID:193673000 {source="DOID:9335"}
xref: SCTID:33970004 {source="DOID:9335"}
xref: UMLS:C0036454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19902"}
is_a: MONDO:0005328 {source="DOID:9335", source="MESH:D012607/inferred"} ! eye disorder
property_value: IAO:0000589 "scotoma (disease)" xsd:string

[Term]
id: MONDO:0004759
name: zoophilia
synonym: "bestiality" EXACT DEPRECATED [DOID:9336]
synonym: "zoophilia" EXACT [DOID:9336, ICD9CM:302.1]
xref: DOID:9336 {source="MONDO:equivalentTo"}
xref: ICD9:302.1 {source="DOID:9336", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:154907002 {source="DOID:9336"}
xref: SCTID:268763002 {source="DOID:9336"}
xref: SCTID:31997002 {source="DOID:9336"}
xref: SCTID:81463002 {source="DOID:9336", source="MONDO:equivalentTo"}
xref: UMLS:C0152186 {source="MONDO:equivalentTo", source="MEDGEN:508916", source="MONDO:MEDGEN"}
is_a: MONDO:0000596 {source="DOID:9336"} ! paraphilic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6364" xsd:anyURI

[Term]
id: MONDO:0004760
name: urethral false passage
xref: DOID:9339 {source="MONDO:equivalentTo"}
xref: ICD10CM:N36.5 {source="DOID:9339", source="MONDO:equivalentTo"}
xref: ICD9:599.4 {source="DOID:9339", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:74944002 {source="DOID:9339", source="MONDO:equivalentTo"}
xref: UMLS:C0156286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510227"}
is_a: MONDO:0004184 {source="DOID:9339"} ! urethral disorder

[Term]
id: MONDO:0004761
name: obsolete urethral diverticulum
comment: Obsoleted as it represents a finding or phenotypic feature
synonym: "obsolete urethral diverticulum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:9341 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N36.1 {source="DOID:9341"}
xref: ICD9:599.2 {source="DOID:9341"}
xref: NCIT:C39861 {source="DOID:9341"}
xref: SCTID:90531003 {source="DOID:9341"}
property_value: IAO:0000589 "obsolete urethral diverticulum (disease)" xsd:string
is_obsolete: true
replaced_by: HP:0008722

[Term]
id: MONDO:0004762
name: Taylor syndrome
synonym: "congestion-fibrosis syndrome" EXACT [DOID:9346]
synonym: "pelvic congestion syndrome" EXACT [DOID:9346, ICD9CM:625.5]
synonym: "Taylor's syndrome" EXACT [DOID:9346]
xref: DOID:9346 {source="MONDO:equivalentTo"}
xref: ICD9:625.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9346"}
xref: MEDGEN:508874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156027002 {source="DOID:9346"}
xref: SCTID:39402007 {source="MONDO:equivalentTo", source="DOID:9346"}
xref: UMLS:C0152078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508874"}
is_a: MONDO:0002654 {source="DOID:9346"} ! uterine disorder

[Term]
id: MONDO:0004763
name: carotid artery dissection
def: "Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke." [NCIT:C125662]
synonym: "dissection of carotid artery" EXACT [DOID:9348, ICD9CM:443.21]
xref: DOID:9348 {source="MONDO:equivalentTo"}
xref: ICD10CM:I77.71 {source="DOID:9348", source="MONDO:equivalentTo"}
xref: ICD9:443.21 {source="DOID:9348"}
xref: MEDGEN:488844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125662 {source="MONDO:equivalentTo"}
xref: SCTID:230729006 {source="DOID:9348"}
xref: SCTID:720626009 {source="MONDO:equivalentTo"}
xref: UMLS:C0338585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488844"}
is_a: MONDO:0005269 {source="DOID:9348", source="NCIT:C125662"} ! carotid artery disorder

[Term]
id: MONDO:0004764
name: fibular collateral ligament bursitis
xref: DOID:9358 {source="MONDO:equivalentTo"}
xref: ICD9:726.63 {source="DOID:9358", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:202870007 {source="DOID:9358"}
xref: SCTID:77323000 {source="DOID:9358", source="MONDO:equivalentTo"}
xref: UMLS:C0158316 {source="MEDGEN:510512", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002183 {source="DOID:9358"} ! enthesopathy

[Term]
id: MONDO:0004765
name: intrinsic asthma
def: "An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness." [DOID:9360, http://www.aafa.org/display.cfm?id=8&sub=17, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf]
xref: DOID:9360 {source="MONDO:equivalentTo"}
xref: ICD10CM:J45 {source="DOID:9360"}
xref: ICD9:493.1 {source="DOID:9360"}
xref: MEDGEN:510123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155576005 {source="DOID:9360"}
xref: SCTID:195973000 {source="DOID:9360"}
xref: SCTID:195976008 {source="DOID:9360"}
xref: SCTID:266361008 {source="DOID:9360", source="MONDO:equivalentTo"}
xref: SCTID:266397004 {source="DOID:9360"}
xref: SCTID:8312004 {source="DOID:9360"}
xref: UMLS:C0155880 {source="MEDGEN:510123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004979 {source="DOID:9360"} ! asthma
disjoint_from: MONDO:0004784 ! allergic asthma
relationship: disease_has_feature HP:0000739 ! Anxiety
relationship: disease_has_feature HP:0002099 ! Asthma
relationship: disease_has_feature HP:0002883 ! Hyperventilation

[Term]
id: MONDO:0004766
name: status asthmaticus
def: "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "asthma with status asthmaticus" EXACT [DOID:9362]
synonym: "severe asthma attack" EXACT [DOID:9362]
xref: DOID:9362 {source="MONDO:equivalentTo"}
xref: EFO:0008590 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:493.91 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9362"}
xref: MEDGEN:11584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013224 {source="MONDO:equivalentTo", source="DOID:9362"}
xref: NCIT:C122577 {source="MONDO:equivalentTo", source="DOID:9362"}
xref: SCTID:155577001 {source="DOID:9362"}
xref: SCTID:195980003 {source="DOID:9362"}
xref: SCTID:266363006 {source="DOID:9362"}
xref: SCTID:36979006 {source="DOID:9362"}
xref: SCTID:57546000 {source="DOID:9362"}
xref: SCTID:708090002 {source="MONDO:equivalentTo", source="DOID:9362"}
xref: UMLS:C0038218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11584"}
is_a: MONDO:0004979 {source="DOID:9362", source="EFO:0008590", source="MESH:D013224", source="NCIT:C122577"} ! asthma

[Term]
id: MONDO:0004767
name: vesiculitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "gland, seminal vesicle" EXACT [NCIT:C12787]
synonym: "inflammation of seminal vesicle" EXACT []
synonym: "seminal Sacs" EXACT [NCIT:C12787]
synonym: "seminal vesicle" EXACT [NCIT:C12787]
synonym: "seminal vesicle inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "seminal vesicles" EXACT [NCIT:C12787]
synonym: "seminal vesiculitis" EXACT [DOID:9365, ICD9CM:608.0]
xref: DOID:9365 {source="MONDO:equivalentTo"}
xref: ICD10CM:N49.0 {source="DOID:9365"}
xref: ICD9:608.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9365"}
xref: MEDGEN:508285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12787 {source="MONDO:equivalentTo"}
xref: SCTID:155935006 {source="DOID:9365"}
xref: SCTID:198043008 {source="DOID:9365"}
xref: SCTID:198044002 {source="DOID:9365"}
xref: SCTID:27001009 {source="MONDO:equivalentTo", source="DOID:9365"}
xref: UMLS:C0042588 {source="MEDGEN:508285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="DOID:9365", source="MONDO:Redundant"} ! male reproductive system disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000998 ! seminal vesicle

[Term]
id: MONDO:0004768
name: keratoconjunctivitis
def: "Inflammation of both the cornea and the conjunctiva." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9368 {source="MONDO:equivalentTo"}
xref: HP:0001096 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H16.2 {source="MONDO:equivalentTo", source="DOID:9368"}
xref: ICD10CM:H16.20 {source="DOID:9368"}
xref: ICD9:370.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9368"}
xref: ICD9:370.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:370.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:44014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007637 {source="MONDO:equivalentTo", source="DOID:9368"}
xref: NCIT:C34744 {source="MONDO:equivalentTo", source="DOID:9368"}
xref: SCTID:155154005 {source="DOID:9368"}
xref: SCTID:193757003 {source="DOID:9368"}
xref: SCTID:193780006 {source="DOID:9368"}
xref: SCTID:88151007 {source="MONDO:equivalentTo", source="DOID:9368"}
xref: UMLS:C0022573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44014"}
is_a: MONDO:0003085 {source="ICD10CM:H16.2", source="MESH:D007637", source="MONDO:Redundant"} ! keratitis
is_a: MONDO:0003799 {source="MESH:D007637", source="MONDO:Redundant"} ! conjunctivitis
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_inflammation_site UBERON:0000964 ! cornea
intersection_of: disease_has_inflammation_site UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0004769
name: orbital pseudotumor
def: "A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis)." [MESH:D016727]
comment: Editor note: check relationship to orbotral granuloma
synonym: "granuloma, plasma cell, orbital" EXACT [MESH:D016727]
synonym: "inflammatory pseudotumor of orbit" EXACT [MESH:D016727, UMLS:C0085270]
synonym: "inflammatory pseudotumor of orbit proper" EXACT [SCTID:72789009]
synonym: "inflammatory pseudotumor, orbital" EXACT [MESH:D016727]
synonym: "inflammatory pseudotumors, orbital" EXACT [MESH:D016727]
synonym: "orbital granuloma, plasma cell" EXACT [MESH:D016727]
synonym: "orbital inflammatory pseudotumor" EXACT [MESH:D016727]
synonym: "orbital inflammatory pseudotumors" EXACT [MESH:D016727]
synonym: "orbital myositis" RELATED [DOID:9369, ICD9CM:376.12]
synonym: "orbital plasma cell granuloma" EXACT [DOID:9369]
synonym: "orbital pseudotumors" EXACT [MESH:D016727]
synonym: "plasma cell granuloma, orbital" EXACT [MESH:D016727]
synonym: "pseudotumor of orbit" EXACT [DOID:9369]
synonym: "pseudotumor, inflammatory, orbital" EXACT [MESH:D016727]
synonym: "pseudotumor, orbital" EXACT [MESH:D016727]
synonym: "pseudotumor, orbital inflammatory" EXACT [MESH:D016727]
synonym: "pseudotumors, orbital" EXACT [MESH:D016727]
xref: DOID:9369 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.11 {source="DOID:9369"}
xref: MEDGEN:43140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016727 {source="DOID:9369", source="MONDO:equivalentTo"}
xref: SCTID:302901005 {source="DOID:9369"}
xref: SCTID:72789009 {source="DOID:9369", source="MONDO:equivalentTo"}
xref: UMLS:C0085270 {source="MEDGEN:43140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001849 {source="DOID:9369"} ! chronic orbital inflammation
is_a: MONDO:0004751 {source="DOID:9369/inferred", source="MESH:D016727", source="MONDO:indirect"} ! disease of orbital part of eye adnexa
relationship: excluded_subClassOf MONDO:0021167 {source="NCIT:C117296", source="https://orcid.org/0000-0001-5208-3432"} ! myositis disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7257" xsd:anyURI

[Term]
id: MONDO:0004770
name: exophthalmos
def: "The anterior displacement of the eye within the orbit, giving a bulging appearance." [NCIT:P378]
synonym: "exophthalmos" EXACT [MONDO:ambiguous]
synonym: "exophthalmos (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "proptosis" EXACT [DOID:9370]
xref: DOID:9370 {source="MONDO:equivalentObsolete"}
xref: HP:0000520 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H05.20 {source="DOID:9370"}
xref: ICD9:376.30 {source="MONDO:equivalentTo", source="DOID:9370", source="MONDO:i2s"}
xref: MEDGEN:41917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005094 {source="MONDO:equivalentTo", source="DOID:9370"}
xref: NCIT:C118763 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:9370"}
xref: NCIT:C87114 {source="MONDO:otherHierarchy", source="DOID:9370"}
xref: SCTID:155200004 {source="DOID:9370"}
xref: SCTID:18265008 {source="MONDO:equivalentTo", source="DOID:9370"}
xref: SCTID:267746003 {source="DOID:9370"}
xref: UMLS:C0015300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41917"}
is_a: MONDO:0005328 {source="DOID:9370", source="MESH:D005094/inferred"} ! eye disorder
property_value: IAO:0000589 "exophthalmos (disease)" xsd:string

[Term]
id: MONDO:0004771
name: obsolete Fuchs' heterochromic uveitis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4223" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016989

[Term]
id: MONDO:0004772
name: glaucomatocyclitic crisis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:636950"}
subset: orphanet_rare {source="Orphanet:636950"}
subset: rare
synonym: "glaucomatocyclitic crisis disease" EXACT [Orphanet:636950]
synonym: "Posner-Schlossman syndrome" EXACT [DOID:9378]
synonym: "Terrien-Viel syndrome" EXACT [DOID:9378]
xref: DOID:9378 {source="MONDO:equivalentTo"}
xref: ICD9:364.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9378"}
xref: MEDGEN:508902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:636950 {source="MONDO:equivalentTo"}
xref: SCTID:29538005 {source="MONDO:equivalentTo", source="DOID:9378"}
xref: UMLS:C0152138 {source="MEDGEN:508902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004773 {source="DOID:9378"} ! iridocyclitis

[Term]
id: MONDO:0004773
name: iridocyclitis
def: "An inflammation of the iris and the ciliary body" [https://orcid.org/0000-0002-6601-2165, Wikipedia:Uveitis#Classification]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "iridocyclitis" EXACT [MONDO:ambiguous]
synonym: "iridocyclitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "primary iridocyclitis" NARROW [DOID:9383]
xref: DOID:9383 {source="MONDO:equivalentTo"}
xref: HP:0001094 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H20.01 {source="DOID:9383"}
xref: ICD9:364.01 {source="DOID:9383"}
xref: ICD9:364.2 {source="DOID:9383"}
xref: ICD9:364.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015863 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C34736 {source="MONDO:equivalentTo"}
xref: SCTID:12630008 {source="DOID:9383"}
xref: SCTID:193485000 {source="DOID:9383"}
xref: SCTID:193496008 {source="DOID:9383"}
xref: SCTID:77971008 {source="MONDO:equivalentTo"}
xref: UMLS:C0022073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43961"}
is_a: MONDO:0006651 {source="DOID:9383", source="NCIT:C34736"} ! anterior uveitis
is_a: MONDO:0006814 {source="MONDO:Redundant"} ! iritis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001769 ! iris
intersection_of: disease_has_inflammation_site UBERON:0001775 ! ciliary body
property_value: IAO:0000589 "iridocyclitis (disease)" xsd:string

[Term]
id: MONDO:0004774
name: gonococcal iridocyclitis
def: "An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Neisseria gonorrhoeae caused iridocyclitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae iridocyclitis (disease)" EXACT []
xref: DOID:9384 {source="MONDO:equivalentTo"}
xref: ICD10CM:A54.32 {source="MONDO:equivalentTo", source="DOID:9384"}
xref: ICD9:098.41 {source="DOID:9384"}
xref: MEDGEN:509207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186922002 {source="DOID:9384"}
xref: SCTID:9091006 {source="MONDO:equivalentTo", source="DOID:9384"}
xref: UMLS:C0153212 {source="MEDGEN:509207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0004773 {source="DOID:9384", source="MONDO:Redundant"} ! iridocyclitis
intersection_of: MONDO:0004773 ! iridocyclitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae

[Term]
id: MONDO:0004775
name: lens-induced iridocyclitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lens-induced iridocyclitis" EXACT [DOID:9388]
xref: DOID:9388 {source="MONDO:equivalentTo"}
xref: ICD10CM:H20.2 {source="DOID:9388"}
xref: ICD9:364.23 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9388"}
xref: MEDGEN:573082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:70461003 {source="MONDO:equivalentTo", source="DOID:9388"}
xref: UMLS:C0339320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573082"}
is_a: MONDO:0004773 {source="DOID:9388"} ! iridocyclitis

[Term]
id: MONDO:0004776
name: obsolete infectious anterior uveitis
is_obsolete: true
replaced_by: MONDO:0017210

[Term]
id: MONDO:0004777
name: acute laryngitis
def: "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "laryngitis" BROAD [NCIT:C26688]
synonym: "laryngitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:9396 {source="MONDO:equivalentTo"}
xref: ICD10CM:J04.0 {source="MONDO:equivalentTo", source="DOID:9396"}
xref: ICD9:464.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9396"}
xref: ICD9:464.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:464.01 {source="DOID:9396"}
xref: MEDGEN:1317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26688 {source="MONDO:equivalentTo", source="DOID:9396"}
xref: SCTID:155506009 {source="DOID:9396"}
xref: SCTID:195690008 {source="DOID:9396"}
xref: SCTID:408669002 {source="DOID:9396"}
xref: SCTID:6655004 {source="MONDO:equivalentTo", source="DOID:9396"}
xref: UMLS:C0001327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1317"}
is_a: MONDO:0002647 {source="DOID:9396", source="MONDO:Redundant", source="NCIT:C26688"} ! laryngitis
intersection_of: MONDO:0002647 ! laryngitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004778
name: epididymo-orchitis
def: "A disorder involving inflammation of the epididymis and testes." [https://orcid.org/0000-0002-6601-2165, https://www.merckmanuals.com/home/men-s-health-issues/penile-and-testicular-disorders/epididymitis-and-epididymo-orchitis]
xref: DOID:9401 {source="MONDO:equivalentTo"}
xref: ICD10CM:N45 {source="DOID:9401"}
xref: ICD10CM:N45.3 {source="MONDO:equivalentTo", source="DOID:9401"}
xref: ICD9:604 {source="DOID:9401"}
xref: ICD9:604.90 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9401"}
xref: MEDGEN:508448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155913003 {source="DOID:9401"}
xref: SCTID:155915005 {source="DOID:9401"}
xref: SCTID:155917002 {source="DOID:9401"}
xref: SCTID:197983000 {source="MONDO:equivalentTo", source="DOID:9401"}
xref: SCTID:198001001 {source="DOID:9401"}
xref: SCTID:198003003 {source="DOID:9401"}
xref: SCTID:198004009 {source="DOID:9401"}
xref: SCTID:24084007 {source="DOID:9401"}
xref: UMLS:C0149881 {source="MEDGEN:508448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004779 {source="DOID:9401", source="MONDO:Redundant"} ! epididymitis
is_a: MONDO:0006882 {source="MONDO:Redundant"} ! orchitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0000473 ! testis
intersection_of: disease_has_inflammation_site UBERON:0001301 ! epididymis

[Term]
id: MONDO:0004779
name: epididymitis
def: "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord." [MESH:D004823]
synonym: "epididymal" EXACT [NCIT:C12328]
synonym: "epididymis" EXACT [NCIT:C12328]
synonym: "epididymitis" EXACT [MONDO:ambiguous]
synonym: "epididymitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:9402 {source="MONDO:equivalentTo"}
xref: HP:0000031 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N45.1 {source="DOID:9402", source="MONDO:equivalentTo"}
xref: MEDGEN:4986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004823 {source="DOID:9402", source="MONDO:equivalentTo"}
xref: NCIT:C12328 {source="MONDO:equivalentTo"}
xref: SCTID:155914009 {source="DOID:9402"}
xref: SCTID:197993007 {source="DOID:9402"}
xref: SCTID:197998003 {source="DOID:9402"}
xref: SCTID:31070006 {source="DOID:9402", source="MONDO:equivalentTo"}
xref: UMLS:C0014534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4986"}
is_a: MONDO:0003150 {source="DOID:9402", source="ICD10CM:N45.1/inferred", source="MESH:D004823", source="MONDO:Redundant"} ! male reproductive system disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0001301 ! epididymis
property_value: IAO:0000589 "epididymitis (disease)" xsd:string

[Term]
id: MONDO:0004780
name: strictly posterior acute myocardial infarction
xref: DOID:9407 {source="MONDO:equivalentTo"}
xref: ICD9:410.60 {source="DOID:9407"}
xref: MEDGEN:538775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0264706 {source="MEDGEN:538775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004781 {source="DOID:9407"} ! acute myocardial infarction
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004781
name: acute myocardial infarction
def: "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute myocardial infarction (disease)" EXACT []
synonym: "myocardial infarction (disease), acute" EXACT [MONDO:patterns/acute]
xref: DOID:9408 {source="MONDO:equivalentTo"}
xref: EFO:0008583 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I21.3 {source="DOID:9408"}
xref: ICD10CM:I21.9 {source="https://doi.org/10.1186/1472-6963-13-468", source="MONDO:equivalentTo"}
xref: ICD9:410 {source="DOID:9408"}
xref: ICD9:410.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:410.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:410.82 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:410.9 {source="DOID:9408"}
xref: ICD9:410.90 {source="MONDO:equivalentTo", source="DOID:9408", source="MONDO:i2s"}
xref: ICD9:410.91 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:410.92 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35204 {source="MONDO:equivalentTo", source="DOID:9408"}
xref: SCTID:155304006 {source="DOID:9408"}
xref: SCTID:194796000 {source="DOID:9408"}
xref: SCTID:194811003 {source="DOID:9408"}
xref: SCTID:266288001 {source="DOID:9408"}
xref: SCTID:57054005 {source="MONDO:equivalentTo", source="DOID:9408"}
xref: UMLS:C0155626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57611"}
is_a: MONDO:0005068 {source="DOID:9408", source="EFO:0008583", source="ICD10CM:I21.9", source="MONDO:Redundant", source="NCIT:C35204"} ! myocardial infarction
intersection_of: MONDO:0005068 ! myocardial infarction
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004782
name: diabetes insipidus
def: "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related." [NCIT:C43263]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9409 {source="MONDO:equivalentTo"}
xref: ICD10CM:E23.2 {source="DOID:9409", source="MONDO:equivalentTo"}
xref: ICD9:253.5 {source="DOID:9409", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:8349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003919 {source="DOID:9409", source="MONDO:equivalentTo"}
xref: NANDO:2100117 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C43263 {source="DOID:9409", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:15771004 {source="DOID:9409", source="MONDO:equivalentTo"}
xref: SCTID:190484000 {source="DOID:9409"}
xref: UMLS:C0011848 {source="MEDGEN:8349", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:9409", source="MESH:D003919"} ! kidney disorder

[Term]
id: MONDO:0004783
name: obsolete panhypopituitarism
is_obsolete: true
replaced_by: MONDO:0019591

[Term]
id: MONDO:0004784
name: allergic asthma
def: "A asthma with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic form of asthma" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "atopic asthma" RELATED [DOID:9415]
synonym: "extrinsic asthma with acute exacerbation" EXACT [DOID:9415]
synonym: "extrinsic asthma with status asthmaticus" EXACT [DOID:9415]
xref: DOID:9415 {source="MONDO:equivalentTo"}
xref: ICD10CM:J45 {source="DOID:9415"}
xref: ICD9:493.0 {source="DOID:9415"}
xref: MEDGEN:102343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155575009 {source="DOID:9415"}
xref: SCTID:16862005 {source="DOID:9415"}
xref: SCTID:195968006 {source="DOID:9415"}
xref: SCTID:195972005 {source="DOID:9415"}
xref: SCTID:233680000 {source="DOID:9415"}
xref: SCTID:266358007 {source="DOID:9415"}
xref: SCTID:266396008 {source="DOID:9415"}
xref: SCTID:389145006 {source="DOID:9415", source="MONDO:equivalentTo"}
xref: SCTID:389146007 {source="DOID:9415"}
xref: UMLS:C0155877 {source="MEDGEN:102343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004979 {source="DOID:9415", source="MONDO:Entailed", source="MONDO:Redundant"} ! asthma
intersection_of: MONDO:0004979 ! asthma
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity

[Term]
id: MONDO:0004785
name: blepharitis
def: "Inflammation of the eyelids near the eyelashes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "eyelid inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of eyelid" EXACT []
xref: DOID:9423 {source="MONDO:equivalentTo"}
xref: EFO:0009536 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H01.0 {source="MONDO:equivalentTo", source="DOID:9423"}
xref: ICD10CM:H01.00 {source="DOID:9423"}
xref: ICD10CM:H01.9 {source="DOID:9423"}
xref: ICD9:373.0 {source="DOID:9423"}
xref: ICD9:373.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9423"}
xref: ICD9:373.4 {source="DOID:9423"}
xref: ICD9:373.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:373.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9423"}
xref: MEDGEN:598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001762 {source="MONDO:equivalentTo", source="DOID:9423"}
xref: NCIT:C112183 {source="MONDO:equivalentTo", source="DOID:9423"}
xref: SCTID:155170007 {source="DOID:9423"}
xref: SCTID:155171006 {source="DOID:9423"}
xref: SCTID:155175002 {source="DOID:9423"}
xref: SCTID:193907001 {source="DOID:9423"}
xref: SCTID:193908006 {source="DOID:9423"}
xref: SCTID:193909003 {source="DOID:9423"}
xref: SCTID:193910008 {source="DOID:9423"}
xref: SCTID:193920003 {source="DOID:9423"}
xref: SCTID:193925008 {source="DOID:9423"}
xref: SCTID:396712002 {source="DOID:9423"}
xref: SCTID:41446000 {source="MONDO:equivalentTo", source="DOID:9423"}
xref: UMLS:C0005741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:598"}
is_a: MONDO:0003382 {source="DOID:9423", source="MESH:D001762", source="MONDO:Redundant"} ! eyelid disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001711 ! eyelid

[Term]
id: MONDO:0004786
name: chronic cholangitis
def: "Cholangitis that is persistent and long-standing." [NCIT:P378]
synonym: "cholangitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:9439 {source="MONDO:equivalentTo"}
xref: MEDGEN:82765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35335 {source="DOID:9439", source="MONDO:equivalentTo"}
xref: SCTID:71912000 {source="DOID:9439", source="MONDO:equivalentTo"}
xref: UMLS:C0267918 {source="MEDGEN:82765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004789 {source="DOID:9439", source="MONDO:Redundant", source="NCIT:C35335"} ! cholangitis
intersection_of: MONDO:0004789 ! cholangitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0004787
name: cervical mullerian papilloma
def: "A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells." [NCIT:C40215]
synonym: "cervical Muellerian papilloma" EXACT [DOID:9442]
synonym: "cervical Mullerian papilloma" EXACT [NCIT:C40215]
synonym: "cervical Müllerian papilloma" EXACT [NCIT:C40215]
xref: DOID:9442 {source="MONDO:equivalentTo"}
xref: MEDGEN:273910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40215 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:9442"}
xref: UMLS:C1516427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273910"}
is_a: MONDO:0000644 {source="DOID:9442", source="NCIT:C40215"} ! cervical benign neoplasm
is_a: MONDO:0002363 {source="NCIT:C40215"} ! papilloma

[Term]
id: MONDO:0004788
name: cervix squamous papilloma
def: "A papilloma that arises from the squamous epithelium of the cervix." [NCIT:C6342]
synonym: "cervical squamous papilloma" EXACT [NCIT:C6342]
synonym: "cervix squamous papilloma" EXACT [NCIT:C6342]
synonym: "cervix uteri squamous papilloma" EXACT [NCIT:C6342]
synonym: "squamous papilloma of cervix" EXACT [NCIT:C6342]
synonym: "squamous papilloma of cervix uteri" EXACT [NCIT:C6342]
synonym: "squamous papilloma of the cervix" EXACT [NCIT:C6342]
synonym: "squamous papilloma of the cervix uteri" EXACT [DOID:9445, NCIT:C6342]
synonym: "squamous papilloma of the uterine cervix" EXACT [NCIT:C6342]
synonym: "squamous papilloma of uterine cervix" EXACT [NCIT:C6342]
synonym: "uterine cervix squamous papilloma" EXACT [MONDO:patterns/location, NCIT:C6342]
xref: DOID:9445 {source="MONDO:equivalentTo"}
xref: MEDGEN:237038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6342 {source="MONDO:equivalentTo", source="DOID:9445"}
xref: UMLS:C1336900 {source="MEDGEN:237038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000644 {source="DOID:9445", source="MONDO:Redundant", source="NCIT:C6342"} ! cervical benign neoplasm
is_a: MONDO:0001825 {source="MONDO:Redundant", source="NCIT:C6342"} ! squamous papilloma
intersection_of: MONDO:0001825 ! squamous papilloma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0004789
name: cholangitis
def: "An acute or chronic inflammatory process affecting the biliary tract." [NCIT:C26718]
subset: otar {source="MONDO:OTAR"}
synonym: "biliary tract infection" EXACT [NCIT:C26718]
synonym: "biliary tree inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "cholangitis" EXACT [NCIT:C26718]
synonym: "inflammation of biliary tree" EXACT []
xref: DOID:9446 {source="MONDO:equivalentTo"}
xref: ICD10CM:K83.0 {source="DOID:9446", source="MONDO:equivalentTo"}
xref: ICD9:576.1 {source="DOID:9446", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:40258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002761 {source="DOID:9446", source="MONDO:equivalentTo"}
xref: NCIT:C26718 {source="DOID:9446", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:155831003 {source="DOID:9446"}
xref: SCTID:197445007 {source="DOID:9446"}
xref: SCTID:82403002 {source="DOID:9446", source="MONDO:equivalentTo"}
xref: UMLS:C0008311 {source="MEDGEN:40258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002887 {source="DOID:9446", source="MESH:D002761", source="MONDO:Redundant", source="NCIT:C26718/inferred"} ! bile duct disorder
is_a: MONDO:0006322 {source="NCIT:C26718"} ! non-neoplastic bile duct disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001173 ! biliary tree

[Term]
id: MONDO:0004790
name: fatty liver disease
def: "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." [Wikipedia:Fatty_liver]
comment: Editor note: classified as inherited in DO
subset: otar {source="MONDO:OTAR"}
synonym: "alcoholic fatty liver" RELATED EXCLUDE [DOID:9452]
synonym: "fatty change of liver" EXACT [DOID:9452]
synonym: "fatty liver" EXACT [MONDO:0005317]
synonym: "hepatic lipidosis" EXACT [DOID:9452]
synonym: "steatosis of liver" EXACT [DOID:9452]
xref: DOID:9452 {source="MONDO:equivalentTo"}
xref: ICD10CM:K70.0 {source="DOID:9452"}
xref: ICD9:571.0 {source="DOID:9452"}
xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:398225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005234 {source="MONDO:equivalentTo", source="DOID:9452", source="EFO:0003934"}
xref: MESH:D005235 {source="DOID:9452"}
xref: SCTID:197321007 {source="MONDO:equivalentTo", source="DOID:9452", source="EFO:0003934"}
xref: SCTID:371330000 {source="MONDO:equivalentObsolete", source="DOID:9452"}
xref: SCTID:390002007 {source="DOID:9452"}
xref: SCTID:442191002 {source="EFO:0003934"}
xref: SCTID:5360002 {source="DOID:9452"}
xref: UMLS:C2711227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:398225"}
is_a: MONDO:0005154 {source="MESH:D005234", source="MONDO:Redundant"} ! liver disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_feature HP:0001397 ! Hepatic steatosis
relationship: disease_has_basis_in_disruption_of GO:0071830 ! triglyceride-rich lipoprotein particle clearance
relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver

[Term]
id: MONDO:0004791
name: obsolete lipid storage disease
is_obsolete: true
replaced_by: MONDO:0019245

[Term]
id: MONDO:0004792
name: cancer of isthmus of fallopian tube
def: "A cancer that involves the UBERON:0016632." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of isthmus of fallopian tube" EXACT [MONDO:patterns/cancer]
synonym: "isthmus of fallopian tube cancer" EXACT []
synonym: "malignant isthmus of fallopian tube neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of isthmus of fallopian tube" EXACT [MONDO:patterns/cancer]
xref: DOID:9459 {source="MONDO:equivalentTo"}
xref: ICD9:182.1 {source="DOID:9459"}
xref: MEDGEN:1843459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0153575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843459"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0016632 ! isthmus of fallopian tube
relationship: excluded_subClassOf MONDO:0006003 {source="DOID:9459", source="https://orcid.org/0000-0001-5208-3432"} ! uterine corpus cancer

[Term]
id: MONDO:0004793
name: obsolete uterine corpus cancer
is_obsolete: true
replaced_by: MONDO:0006003

[Term]
id: MONDO:0004794
name: exposure keratitis
synonym: "exposure keratoconjunctivitis" EXACT [DOID:9461, ICD9CM:370.34]
synonym: "lagophthalmic keratitis" EXACT [DOID:9461]
xref: DOID:9461 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.21 {source="DOID:9461"}
xref: ICD9:370.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9461"}
xref: MEDGEN:87383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14366000 {source="MONDO:equivalentTo", source="DOID:9461"}
xref: UMLS:C0339295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87383"}
is_a: MONDO:0004768 {source="DOID:9461"} ! keratoconjunctivitis

[Term]
id: MONDO:0004795
name: otitis externa
def: "Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain." [NCIT:C3299]
subset: otar {source="MONDO:OTAR"}
synonym: "external Ear infection" EXACT [NCIT:C3299]
synonym: "infectious otitis externa" EXACT [NCIT:C3299]
synonym: "otitis externa" EXACT [NCIT:C3299]
synonym: "outer Ear infection" EXACT [NCIT:C3299]
synonym: "swimmer's Ear" EXACT [NCIT:C3299]
synonym: "swimmer's ear" EXACT [DOID:9463]
xref: DOID:9463 {source="MONDO:equivalentTo"}
xref: EFO:0009560 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H60 {source="MONDO:equivalentTo"}
xref: ICD9:380.1 {source="DOID:9463"}
xref: ICD9:380.10 {source="DOID:9463"}
xref: MEDGEN:10505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010032 {source="MONDO:equivalentTo", source="DOID:9463"}
xref: NCIT:C3299 {source="MONDO:equivalentTo", source="DOID:9463"}
xref: NCIT:C79601 {source="MONDO:equivalentTo"}
xref: SCTID:194198006 {source="DOID:9463"}
xref: SCTID:194199003 {source="DOID:9463"}
xref: SCTID:194214000 {source="DOID:9463"}
xref: SCTID:267752002 {source="DOID:9463"}
xref: SCTID:3135009 {source="MONDO:equivalentTo", source="DOID:9463"}
xref: SCTID:86981007 {source="DOID:9463"}
xref: UMLS:C0029878 {source="MEDGEN:10505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002776 {source="DOID:9463", source="ICD10CM:H60", source="MONDO:Redundant", source="NCIT:C3299/inferred"} ! external ear disorder
is_a: MONDO:0021666 {source="MESH:D010032", source="MONDO:Entailed", source="NCIT:C3299"} ! ear infection
relationship: disease_arises_from_feature MONDO:0005550 ! infectious disease
relationship: disease_has_inflammation_site UBERON:0001691 ! external ear

[Term]
id: MONDO:0004796
name: infectious meningitis
def: "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures." [NCIT:C79598]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infectious meningitis" EXACT [NCIT:C79598]
synonym: "infective meningitis" EXACT [NCIT:C79598]
synonym: "meningitis" RELATED [DOID:9471]
xref: DOID:9471 {source="EFO:0000584", source="MONDO:equivalentTo"}
xref: EFO:0000584 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001287 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G03 {source="DOID:9471"}
xref: ICD10CM:G03.9 {source="DOID:9471"}
xref: ICD9:321.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:322 {source="EFO:0000584", source="DOID:9471"}
xref: ICD9:322.9 {source="EFO:0000584", source="DOID:9471"}
xref: MEDGEN:152668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008581 {source="EFO:0000584", source="DOID:9471"}
xref: NCIT:C26828 {source="DOID:9471"}
xref: NCIT:C79598 {source="EFO:0000584", source="MONDO:equivalentTo"}
xref: SCTID:154983000 {source="DOID:9471"}
xref: SCTID:192678004 {source="DOID:9471"}
xref: SCTID:192681009 {source="DOID:9471"}
xref: SCTID:25822001 {source="EFO:0000584"}
xref: SCTID:312216007 {source="MONDO:equivalentTo"}
xref: SCTID:7180009 {source="EFO:0000584", source="DOID:9471"}
xref: UMLS:C0729584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152668"}
is_a: MONDO:0005550 {source="EFO:0000584", source="MONDO:Redundant"} ! infectious disease
is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C79598"} ! meningitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0002360 ! meninx
disjoint_from: MONDO:0024891 ! non-infectious meningitis
relationship: disease_has_feature HP:0001287 ! Meningitis
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_location UBERON:0002360 {source="EFO:0000784"} ! meninx
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0004797
name: mononeuritis of lower limb
def: "A mononeuritis simplex that involves the hindlimb." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hindlimb mononeuritis simplex" EXACT [MONDO:patterns/location]
synonym: "mononeuritis simplex of hindlimb" EXACT [MONDO:design_pattern]
xref: DOID:9473 {source="MONDO:equivalentTo"}
xref: ICD9:355 {source="DOID:9473"}
xref: ICD9:355.8 {source="DOID:9473"}
xref: MEDGEN:509642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155075000 {source="DOID:9473"}
xref: SCTID:193154003 {source="DOID:9473"}
xref: SCTID:62235007 {source="DOID:9473"}
xref: UMLS:C0154747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509642"}
is_a: MONDO:0002121 {source="DOID:9473", source="MONDO:Redundant"} ! mononeuritis simplex
intersection_of: MONDO:0002121 ! mononeuritis simplex
intersection_of: disease_has_location UBERON:0002103 ! hindlimb

[Term]
id: MONDO:0004798
name: obsolete Sheehan syndrome
is_obsolete: true
replaced_by: MONDO:0019618

[Term]
id: MONDO:0004799
name: ulcerative blepharitis
xref: DOID:9483 {source="MONDO:equivalentTo"}
xref: ICD10CM:H01.01 {source="DOID:9483"}
xref: ICD9:373.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9483"}
xref: MEDGEN:509828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:91662004 {source="MONDO:equivalentTo", source="DOID:9483"}
xref: UMLS:C0155173 {source="MEDGEN:509828", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004785 {source="DOID:9483"} ! blepharitis

[Term]
id: MONDO:0004800
name: chronic dacryoadenitis
def: "Chronic form of dacryoadenitis." [MONDO:patterns/chronic]
synonym: "dacryoadenitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:949 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.02 {source="DOID:949"}
xref: ICD9:375.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:949"}
xref: MEDGEN:509857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:4760008 {source="MONDO:equivalentTo", source="DOID:949"}
xref: UMLS:C0155224 {source="MEDGEN:509857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004804 {source="DOID:949", source="MONDO:Redundant"} ! dacryoadenitis
intersection_of: MONDO:0004804 ! dacryoadenitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0004801
name: unilateral hypoactive labyrinth
xref: DOID:9496 {source="MONDO:equivalentTo"}
xref: ICD9:386.53 {source="DOID:9496"}
xref: MEDGEN:510003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194374008 {source="DOID:9496"}
xref: SCTID:81585005 {source="DOID:9496"}
xref: UMLS:C0155517 {source="MEDGEN:510003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:9496", source="https://github.com/monarch-initiative/mondo/issues/389"} ! inner ear disorder

[Term]
id: MONDO:0004802
name: pulmonary eosinophilia
def: "A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents." [MESH:D011657]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:9498 {source="MONDO:equivalentTo"}
xref: ICD9:518.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9498"}
xref: MEDGEN:46208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011657 {source="MONDO:equivalentTo", source="DOID:9498"}
xref: SCTID:155623005 {source="DOID:9498"}
xref: SCTID:196145005 {source="DOID:9498"}
xref: SCTID:196147002 {source="DOID:9498"}
xref: SCTID:367542003 {source="MONDO:equivalentTo", source="DOID:9498"}
xref: SCTID:91053000 {source="DOID:9498"}
xref: UMLS:C0034068 {source="MEDGEN:46208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015691 {source="DOID:9498", source="MESH:D011657"} ! hypereosinophilic syndrome

[Term]
id: MONDO:0004803
name: disseminated eosinophilic collagen disease
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:9499 {source="MONDO:equivalentTo"}
xref: ICD9:710.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:538043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:26328002 {source="DOID:9499"}
xref: SCTID:423486005 {source="MONDO:equivalentTo", source="DOID:9499"}
xref: UMLS:C0263662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538043"}
is_a: MONDO:0004603 {source="DOID:9499"} ! collagenopathy
is_a: MONDO:0015691 {source="DOID:9499"} ! hypereosinophilic syndrome
relationship: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0004804
name: dacryoadenitis
def: "Inflammation and enlargement of the lacrimal gland." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of lacrimal gland" EXACT []
synonym: "lacrimal gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:950 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.0 {source="DOID:950"}
xref: ICD10CM:H04.00 {source="DOID:950"}
xref: ICD9:375.0 {source="DOID:950"}
xref: ICD9:375.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:950"}
xref: MEDGEN:102328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003607 {source="MONDO:directSiblingOf", source="DOID:950"}
xref: NCIT:C26971 {source="MONDO:equivalentTo", source="DOID:950"}
xref: SCTID:193971001 {source="DOID:950"}
xref: SCTID:193973003 {source="DOID:950"}
xref: SCTID:86927009 {source="MONDO:equivalentTo", source="DOID:950"}
xref: UMLS:C0155223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102328"}
is_a: MONDO:0001854 {source="DOID:950", source="MONDO:Redundant", source="NCIT:C26971"} ! lacrimal apparatus disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0004805
name: leukocyte disorder
def: "A disease involving leukocytes." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease of leukocyte" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of leukocyte" EXACT []
synonym: "disorder of leukocyte" EXACT [MONDO:patterns/location_top]
synonym: "disorder, leukocyte" EXACT [MESH:D007960]
synonym: "disorders, leukocyte" EXACT [MESH:D007960]
synonym: "leukocyte disease" EXACT [MONDO:patterns/location]
synonym: "leukocyte disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "leukocyte disorder" EXACT [MESH:D007960]
synonym: "white blood cell disorder" EXACT []
xref: DOID:9500 {source="MONDO:equivalentTo"}
xref: ICD10CM:D72.9 {source="DOID:9500"}
xref: ICD9:288 {source="DOID:9500"}
xref: ICD9:288.9 {source="DOID:9500"}
xref: MEDGEN:7325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007960 {source="MONDO:equivalentTo", source="DOID:9500"}
xref: SCTID:154829002 {source="DOID:9500"}
xref: SCTID:191369001 {source="DOID:9500"}
xref: SCTID:54097007 {source="MONDO:equivalentTo", source="DOID:9500"}
xref: UMLS:C0023510 {source="MEDGEN:7325", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="DOID:9500", source="MESH:D007960"} ! hematologic disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location CL:0000738 ! leukocyte

[Term]
id: MONDO:0004806
name: chronic eosinophilic pneumonia
def: "Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement." [NCIT:P378]
subset: inferred_rare
subset: rare
synonym: "cryptogenic pulmonary eosinophilia" EXACT [DOID:9502]
synonym: "eosinophilic pneumonia, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:9502 {source="MONDO:equivalentTo"}
xref: MEDGEN:3085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34471 {source="DOID:9502", source="MONDO:equivalentTo"}
xref: SCTID:233692000 {source="DOID:9502", source="MONDO:equivalentTo"}
xref: UMLS:C0008680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3085"}
is_a: MONDO:0005749 {source="DOID:9502", source="MONDO:Redundant", source="NCIT:C34471"} ! eosinophilic pneumonia
intersection_of: MONDO:0005749 ! eosinophilic pneumonia
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0004807
name: obsolete Loeffler syndrome
is_obsolete: true
replaced_by: MONDO:0019122

[Term]
id: MONDO:0004808
name: benign mammary dysplasia
comment: Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia
synonym: "benign dysplasia of breast" RELATED []
synonym: "benign mammary dysplasia" EXACT []
xref: DOID:9504 {source="MONDO:equivalentTo"}
xref: ICD9:610.8 {source="DOID:9504", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:610.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:726820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:57993004 {source="MONDO:equivalentTo"}
xref: UMLS:C1305934 {source="MEDGEN:726820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002657 {source="DOID:9504/inferred"} ! breast disorder
relationship: disease_has_location UBERON:0001911 ! mammary gland
relationship: excluded_subClassOf MONDO:0000620 {source="DOID:9504", source="https://orcid.org/0000-0001-5208-3432"} ! breast benign neoplasm

[Term]
id: MONDO:0004809
name: obsolete cannabis abuse
is_obsolete: true
replaced_by: MONDO:0005689

[Term]
id: MONDO:0004810
name: acute ethmoiditis
def: "Acute form of ethmoid sinusitis." [MONDO:patterns/acute]
synonym: "acute ethmoid sinusitis" EXACT [DOID:9506]
synonym: "acute ethmoidal sinusitis" EXACT [DOID:9506, ICD9CM:461.2]
synonym: "ethmoid sinusitis, acute" EXACT [MONDO:patterns/acute]
synonym: "ethmoidal sinus - acute" EXACT [DOID:9506]
xref: DOID:9506 {source="MONDO:equivalentTo"}
xref: ICD10CM:J01.2 {source="DOID:9506"}
xref: ICD10CM:J01.20 {source="DOID:9506"}
xref: ICD9:461.2 {source="DOID:9506", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155501004 {source="DOID:9506"}
xref: SCTID:266378004 {source="DOID:9506"}
xref: SCTID:67832005 {source="DOID:9506", source="MONDO:equivalentTo"}
xref: UMLS:C0155806 {source="MEDGEN:510088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005756 {source="DOID:9506", source="MONDO:Redundant"} ! ethmoid sinusitis
intersection_of: MONDO:0005756 ! ethmoid sinusitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004811
name: simple chronic conjunctivitis
xref: DOID:9512 {source="MONDO:equivalentTo"}
xref: ICD10CM:H10.42 {source="DOID:9512"}
xref: ICD9:372.11 {source="DOID:9512", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193866007 {source="DOID:9512"}
xref: SCTID:8211008 {source="DOID:9512", source="MONDO:equivalentTo"}
xref: UMLS:C0155146 {source="MONDO:equivalentTo", source="MEDGEN:509807", source="MONDO:MEDGEN"}
is_a: MONDO:0002314 {source="DOID:9512"} ! chronic conjunctivitis

[Term]
id: MONDO:0004812
name: acute dacryoadenitis
def: "Acute form of dacryoadenitis." [MONDO:patterns/acute]
synonym: "dacryoadenitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:952 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.01 {source="DOID:952"}
xref: ICD9:375.01 {source="DOID:952", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:2589008 {source="DOID:952", source="MONDO:equivalentTo"}
xref: UMLS:C0149505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508387"}
is_a: MONDO:0004804 {source="DOID:952", source="MONDO:Redundant"} ! dacryoadenitis
intersection_of: MONDO:0004804 ! dacryoadenitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004813
name: tuberculous pneumothorax
def: "A pneumothorax in which air enters into the pleural cavity." [DOID:9534, http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false]
xref: DOID:9534 {source="MONDO:equivalentTo"}
xref: ICD10CM:A15.0 {source="DOID:9534"}
xref: ICD9:011.7 {source="DOID:9534"}
xref: ICD9:011.70 {source="DOID:9534", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:011.71 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.72 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.73 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.76 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:509067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:29731002 {source="DOID:9534", source="MONDO:equivalentTo"}
xref: UMLS:C0152600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509067"}
is_a: MONDO:0002076 {source="DOID:9534"} ! pneumothorax

[Term]
id: MONDO:0004814
name: obsolete vascular skin disease
is_obsolete: true
replaced_by: MONDO:0019293

[Term]
id: MONDO:0004815
name: osteosclerotic plasma cell myeloma
def: "A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes." [NCIT:C7765]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "osteosclerotic multiple myeloma" EXACT [NCIT:C7765]
synonym: "osteosclerotic myeloma" RELATED [DOID:9541]
synonym: "osteosclerotic plasma cell myeloma" EXACT [NCIT:C7765]
xref: DOID:9541 {source="MONDO:equivalentTo"}
xref: MEDGEN:857662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7765 {source="MONDO:equivalentTo"}
xref: SCTID:42215000 {source="DOID:9541"}
xref: SCTID:425657001 {source="MONDO:equivalentTo", source="DOID:9541"}
xref: UMLS:C3898068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:857662"}
is_a: MONDO:0009693 {source="DOID:9541", source="NCIT:C7765"} ! plasma cell myeloma

[Term]
id: MONDO:0004816
name: refractory plasma cell neoplasm
def: "A plasma cell neoplasm that is resistant to treatment." [NCIT:C7813]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "refractory plasma cell neoplasm" EXACT [NCIT:C7813]
xref: DOID:9544 {source="MONDO:equivalentTo"}
xref: MEDGEN:75844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7024 {source="DOID:9544"}
xref: NCIT:C7813 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:9544"}
xref: UMLS:C0278620 {source="MEDGEN:75844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004111 {source="DOID:9544", source="MONDO:Redundant", source="NCIT:C7813"} ! refractory hematologic cancer
is_a: MONDO:0004959 {source="MONDO:Redundant", source="NCIT:C7813"} ! plasma cell neoplasm
intersection_of: MONDO:0004959 ! plasma cell neoplasm
intersection_of: has_characteristic HP:0031375 ! Refractory
relationship: excluded_subClassOf MONDO:0009693 {source="DOID:9544", source="https://orcid.org/0000-0001-5208-3432"} ! plasma cell myeloma

[Term]
id: MONDO:0004817
name: non-secretory plasma cell myeloma
def: "A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine." [NCIT:C4734]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "non-functioning myeloma" RELATED []
synonym: "non-secreting myeloma" RELATED []
synonym: "non-secretory multiple myeloma" EXACT [NCIT:C4734]
synonym: "non-secretory myeloma" RELATED [DOID:9547]
synonym: "non-secretory plasma cell myeloma" EXACT [NCIT:C4734]
xref: DOID:9547 {source="MONDO:equivalentTo"}
xref: MEDGEN:857719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4734 {source="MONDO:equivalentTo"}
xref: SCTID:277580004 {source="DOID:9547", source="MONDO:equivalentTo"}
xref: UMLS:C3898125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:857719"}
is_a: MONDO:0009693 {source="DOID:9547", source="NCIT:C4734"} ! plasma cell myeloma

[Term]
id: MONDO:0004818
name: obsolete benign neurilemmoma
is_obsolete: true
replaced_by: MONDO:0002546

[Term]
id: MONDO:0004819
name: indolent plasma cell myeloma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "indolent multiple myeloma" EXACT []
synonym: "indolent myeloma" EXACT [https://github.com/monarch-initiative/mondo/issues/423]
synonym: "indolent plasma cell myeloma" EXACT [NCIT:C7150]
xref: DOID:9550 {source="MONDO:equivalentTo"}
xref: MEDGEN:745536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7150 {source="MONDO:equivalentTo"}
xref: SCTID:441313008 {source="MONDO:equivalentTo"}
xref: UMLS:C2049069 {source="MEDGEN:745536", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005235 ! smoldering plasma cell myeloma
is_a: MONDO:0009693 {source="DOID:9550", source="NCIT:C7150"} ! plasma cell myeloma

[Term]
id: MONDO:0004820
name: peripheral nerve schwannoma
def: "A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peripheral nerve schwannoma" EXACT [NCIT:C41430]
xref: DOID:956 {source="MONDO:equivalentTo"}
xref: MEDGEN:274155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41430 {source="DOID:956", source="MONDO:equivalentTo", source="NCIT:C41430"}
xref: UMLS:C1519001 {source="MEDGEN:274155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002546 {source="DOID:956", source="NCIT:C41430"} ! schwannoma

[Term]
id: MONDO:0004821
name: nasopharyngeal disorder
def: "A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma." [NCIT:P378]
synonym: "disease of nasopharynx" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nasopharynx" EXACT []
synonym: "disorder of nasopharynx" EXACT [MONDO:patterns/location_top]
synonym: "disorder of postnasal space" RELATED []
synonym: "nasopharyngeal disorder" EXACT [NCIT:C35723]
synonym: "nasopharynx disease" EXACT [MONDO:patterns/location]
synonym: "nasopharynx disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:9561 {source="MONDO:equivalentTo"}
xref: MEDGEN:45007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009302 {source="MONDO:equivalentTo", source="DOID:9561"}
xref: NCIT:C35723 {source="MONDO:equivalentTo", source="DOID:9561"}
xref: SCTID:123952009 {source="MONDO:equivalentTo", source="DOID:9561"}
xref: UMLS:C0027438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45007"}
is_a: MONDO:0004867 {source="DOID:9561", source="MONDO:Redundant"} ! upper respiratory tract disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0004822
name: bronchiectasis
def: "Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Polynesian bronchiectasis" EXACT [DOID:9563]
xref: DOID:9563 {source="MONDO:equivalentTo"}
xref: ICD10CM:J47 {source="MONDO:equivalentTo", source="DOID:9563"}
xref: ICD10CM:J47.9 {source="DOID:9563"}
xref: ICD9:494 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9563"}
xref: MEDGEN:14234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001987 {source="MONDO:equivalentTo", source="DOID:9563"}
xref: NANDO:2100036 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200206 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84475 {source="MONDO:equivalentTo", source="DOID:9563"}
xref: OMIMPS:211400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:60033 {source="DOID:9563"}
xref: SCTID:12295008 {source="MONDO:equivalentTo", source="DOID:9563"}
xref: SCTID:155580000 {source="DOID:9563"}
xref: SCTID:195986009 {source="DOID:9563"}
xref: UMLS:C0006267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14234"}
is_a: MONDO:0001358 {source="DOID:9563", source="MESH:D001987"} ! bronchial disorder
is_a: MONDO:0005002 {source="NCIT:C84475"} ! chronic obstructive pulmonary disease
relationship: disease_has_feature HP:0002110 ! Bronchiectasis
relationship: disease_has_feature HP:0002205 ! Recurrent respiratory infections
relationship: disease_has_feature HP:0002721 ! Immunodeficiency
relationship: disease_has_feature HP:0100526 ! Neoplasm of the lung
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:211400"} ! inherited

[Term]
id: MONDO:0004823
name: obsolete dextrocardia
is_obsolete: true
replaced_by: MONDO:0015661

[Term]
id: MONDO:0004824
name: neonatal candidiasis
def: "A fungal infection by any of the Candida species in a newborn infant up to 28 days old." [NCIT:P378]
synonym: "neonatal Candida infection" EXACT [DOID:9577, ICD9CM:771.7]
synonym: "neonatal candida infection" EXACT [DOID:9577]
synonym: "neonatal Monilia infection" EXACT [DOID:9577]
synonym: "neonatal moniliasis" EXACT [DOID:9577]
xref: DOID:9577 {source="MONDO:equivalentTo"}
xref: ICD10CM:P37.5 {source="MONDO:equivalentTo", source="DOID:9577"}
xref: ICD9:771.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9577"}
xref: MEDGEN:547484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116810 {source="MONDO:equivalentTo", source="DOID:9577"}
xref: SCTID:157121009 {source="DOID:9577"}
xref: SCTID:206362009 {source="DOID:9577"}
xref: SCTID:3973009 {source="DOID:9577"}
xref: SCTID:414821002 {source="MONDO:equivalentTo", source="DOID:9577"}
xref: UMLS:C0276682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547484"}
is_a: MONDO:0002026 {source="DOID:9577", source="NCIT:C116810"} ! candidiasis

[Term]
id: MONDO:0004825
name: obsolete encephalitis
is_obsolete: true
replaced_by: MONDO:0019956

[Term]
id: MONDO:0004826
name: urethral calculus
def: "A concretion in the urethra." [NCIT:P378]
synonym: "urethra urolithiasis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urethral Stone" EXACT [DOID:9589, NCIT:C26995]
synonym: "urolithiasis of urethra" EXACT [MONDO:design_pattern]
xref: DOID:9589 {source="MONDO:equivalentTo"}
xref: ICD10CM:N21.1 {source="DOID:9589"}
xref: ICD9:594.2 {source="DOID:9589", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26995 {source="DOID:9589", source="MONDO:otherHierarchy"}
xref: SCTID:155880008 {source="DOID:9589"}
xref: SCTID:20342001 {source="DOID:9589", source="MONDO:equivalentTo"}
xref: UMLS:C0162301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57664"}
is_a: MONDO:0004828 {source="DOID:9589", source="MONDO:Redundant"} ! lower urinary tract calculus
intersection_of: MONDO:0024647 ! urolithiasis
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0004827
name: esophagus squamous cell papilloma
def: "A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare." [NCIT:P378]
synonym: "esophageal squamous papilloma" EXACT [NCIT:C5344]
synonym: "esophagus squamous cell papilloma" EXACT [NCIT:C5344]
synonym: "esophagus squamous papilloma" EXACT [MONDO:patterns/location]
synonym: "oesophagus squamous papilloma" EXACT OMO:0003005 []
synonym: "squamous cell papilloma of esophagus" EXACT [NCIT:C5344]
synonym: "squamous cell papilloma of oesophagus" EXACT OMO:0003005 []
synonym: "squamous cell papilloma of the esophagus" EXACT [NCIT:C5344]
synonym: "squamous cell papilloma of the oesophagus" EXACT OMO:0003005 []
xref: DOID:959 {source="MONDO:equivalentTo"}
xref: MEDGEN:272592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5344 {source="MONDO:equivalentTo", source="DOID:959"}
xref: UMLS:C1333467 {source="MONDO:equivalentTo", source="MEDGEN:272592", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="DOID:959", source="MONDO:Redundant", source="NCIT:C5344/inferred"} ! benign digestive system neoplasm
is_a: MONDO:0001825 {source="DOID:959", source="MONDO:Redundant", source="NCIT:C5344"} ! squamous papilloma
is_a: MONDO:0003749 {source="DOID:959", source="MONDO:Redundant", source="NCIT:C5344/inferred"} ! esophageal disorder
is_a: MONDO:0021459 {source="MONDO:Redundant", source="NCIT:C5344/inferred"} ! benign neoplasm of esophagus
intersection_of: MONDO:0001825 ! squamous papilloma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0004828
name: lower urinary tract calculus
def: "A urolithiasis that involves the lower urinary tract." [MONDO:design_pattern]
subset: otar {source="MONDO:OTAR"}
synonym: "lower urinary tract urolithiasis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urolithiasis of lower urinary tract" EXACT [MONDO:design_pattern]
xref: DOID:9590 {source="MONDO:equivalentTo"}
xref: ICD10CM:N21 {source="DOID:9590", source="MONDO:directSiblingOf"}
xref: ICD10CM:N21.9 {source="MONDO:equivalentTo", source="DOID:9590"}
xref: ICD9:594 {source="DOID:9590"}
xref: ICD9:594.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:594.9 {source="MONDO:equivalentTo", source="DOID:9590", source="MONDO:i2s"}
xref: MEDGEN:510219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155878002 {source="DOID:9590"}
xref: SCTID:155881007 {source="DOID:9590"}
xref: SCTID:197828005 {source="DOID:9590"}
xref: SCTID:197832004 {source="DOID:9590"}
xref: SCTID:79509009 {source="MONDO:equivalentTo", source="DOID:9590"}
xref: UMLS:C0156264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510219"}
is_a: MONDO:0002118 {source="DOID:9590"} ! urinary system disorder
intersection_of: MONDO:0024647 ! urolithiasis
intersection_of: disease_has_location UBERON:0001556 ! lower urinary tract

[Term]
id: MONDO:0004829
name: Krukenberg carcinoma
alt_id: MONDO:0006261
def: "Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." [NCIT:C3153]
subset: gard_rare {source="GARD:8627", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Krukenberg neoplasm" EXACT [DOID:9597, NCIT:C3153]
synonym: "Krukenberg tumor" EXACT [DOID:9597, NCIT:C3153]
synonym: "Krukenberg tumour" EXACT OMO:0003005 []
synonym: "Krukenberg’s tumor" RELATED [GARD:0008627]
synonym: "Krukenberg’s tumour" RELATED OMO:0003005 []
xref: DOID:9597 {source="MONDO:equivalentTo"}
xref: EFO:1000316 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8627 {source="MONDO:GARD"}
xref: MEDGEN:9652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007725 {source="MONDO:equivalentTo", source="DOID:9597"}
xref: NCIT:C3153 {source="MONDO:equivalentTo", source="DOID:9597", source="EFO:1000316"}
xref: SCTID:359987004 {source="MONDO:equivalentTo", source="DOID:9597"}
xref: SCTID:4305004 {source="DOID:9597"}
xref: SCTID:94455000 {source="DOID:9597"}
xref: UMLS:C0022790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9652"}
is_a: MONDO:0002229 {source="DOID:9597"} ! ovarian epithelial tumor
is_a: MONDO:0005092 {source="EFO:1000316", source="MESH:D007725", source="NCIT:C3153/inferred", source="NCIT:C66717"} ! signet ring cell carcinoma
is_a: MONDO:0008170 {source="DOID:9597/inferred", source="NCIT:C3153/inferred", source="NCIT:C7456"} ! ovarian cancer
is_a: MONDO:0024880 {source="NCIT:C3153/inferred", source="NCIT:C7456"} ! metastatic malignant neoplasm
intersection_of: MONDO:0024879 ! metastatic carcinoma
intersection_of: disease_arises_from_feature MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0004830
name: fasciitis
def: "Inflammation process in fascia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fascia inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "fasciitis" EXACT [MONDO:ambiguous]
synonym: "fasciitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Fascitis" EXACT [NCIT:C50559]
synonym: "inflammation of fascia" EXACT []
xref: DOID:9598 {source="MONDO:equivalentTo"}
xref: HP:0100537 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M72.9 {source="DOID:9598"}
xref: ICD9:729.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9598"}
xref: MEDGEN:4658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005208 {source="MONDO:equivalentTo", source="DOID:9598"}
xref: NCIT:C50559 {source="MONDO:equivalentTo", source="DOID:9598"}
xref: SCTID:203123000 {source="DOID:9598"}
xref: SCTID:36948007 {source="MONDO:equivalentTo", source="DOID:9598"}
xref: UMLS:C0015645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4658"}
is_a: MONDO:0003900 {source="DOID:9598", source="MONDO:Redundant"} ! connective tissue disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0008982 ! fascia
property_value: IAO:0000589 "fasciitis (disease)" xsd:string

[Term]
id: MONDO:0004831
name: proliferative fasciitis
def: "A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize." [NCIT:C4728]
xref: DOID:9599 {source="MONDO:equivalentTo"}
xref: MEDGEN:98496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4728 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:9599"}
xref: SCTID:254737002 {source="MONDO:equivalentTo", source="DOID:9599"}
xref: SCTID:35548007 {source="DOID:9599"}
xref: UMLS:C0432528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98496"}
is_a: MONDO:0004830 {source="DOID:9599"} ! fasciitis

[Term]
id: MONDO:0004832
name: esophagus leiomyoma
def: "A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom." [NCIT:P378]
synonym: "esophageal leiomyoma" EXACT [NCIT:C3866]
synonym: "esophagus leiomyoma" EXACT [MONDO:patterns/location, NCIT:C3866]
synonym: "leiomyoma of esophagus" EXACT [NCIT:C3866]
synonym: "leiomyoma of oesophagus" EXACT OMO:0003005 []
synonym: "leiomyoma of the esophagus" EXACT [NCIT:C3866]
synonym: "leiomyoma of the oesophagus" EXACT OMO:0003005 []
xref: DOID:960 {source="MONDO:equivalentTo"}
xref: MEDGEN:65947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3866 {source="MONDO:equivalentTo", source="DOID:960"}
xref: SCTID:276805005 {source="MONDO:equivalentTo", source="DOID:960"}
xref: UMLS:C0238114 {source="MONDO:equivalentTo", source="MEDGEN:65947", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="DOID:960", source="MONDO:Redundant", source="NCIT:C3866/inferred"} ! benign digestive system neoplasm
is_a: MONDO:0001572 {source="DOID:960", source="MONDO:Redundant", source="NCIT:C3866"} ! leiomyoma
is_a: MONDO:0003749 {source="DOID:960", source="MONDO:Redundant", source="NCIT:C3866/inferred"} ! esophageal disorder
is_a: MONDO:0021459 {source="MONDO:Redundant", source="NCIT:C3866"} ! benign neoplasm of esophagus
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0004833
name: plantar fasciitis
def: "Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related." [MESH:D036981]
xref: DOID:9600 {source="MONDO:equivalentTo"}
xref: ICD10CM:M72.2 {source="DOID:9600"}
xref: MEDGEN:56201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D036981 {source="DOID:9600", source="MONDO:equivalentTo"}
xref: SCTID:156725003 {source="DOID:9600"}
xref: SCTID:202882003 {source="DOID:9600", source="MONDO:equivalentTo"}
xref: SCTID:203056001 {source="DOID:9600"}
xref: SCTID:2482001 {source="DOID:9600"}
xref: UMLS:C0149756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56201"}
is_a: MONDO:0004830 {source="DOID:9600", source="MESH:D036981"} ! fasciitis

[Term]
id: MONDO:0004834
name: ischemic fasciitis
def: "A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative." [NCIT:P378]
synonym: "atypical decubital fibroplasia" EXACT [DOID:9601, NCIT:C6483]
xref: DOID:9601 {source="MONDO:equivalentTo"}
xref: MEDGEN:220988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6483 {source="DOID:9601", source="MONDO:equivalentTo"}
xref: SCTID:403990005 {source="DOID:9601", source="MONDO:equivalentTo"}
xref: UMLS:C1304514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220988"}
is_a: MONDO:0004830 {source="DOID:9601", source="NCIT:C6483"} ! fasciitis

[Term]
id: MONDO:0004835
name: necrotizing fasciitis
def: "Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue." [https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis]
xref: DOID:9602 {source="MONDO:equivalentTo"}
xref: ICD10CM:M72.6 {source="DOID:9602", source="MONDO:equivalentTo"}
xref: ICD9:728.86 {source="DOID:9602", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:66763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019115 {source="DOID:9602", source="MONDO:equivalentTo"}
xref: NCIT:C84916 {source="DOID:9602", source="MONDO:equivalentTo"}
xref: SCTID:186428007 {source="DOID:9602"}
xref: SCTID:52486002 {source="DOID:9602", source="MONDO:equivalentTo"}
xref: UMLS:C0238124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66763"}
is_a: MONDO:0004830 {source="DOID:9602", source="MESH:D019115", source="NCIT:C84916"} ! fasciitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis" xsd:anyURI {source="GARD:0006454"}

[Term]
id: MONDO:0004836
name: intravascular fasciitis
def: "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intravascular nodular fasciitis" EXACT [NCIT:C4729]
synonym: "intravascular pseudosarcomatous fasciitis" EXACT [DOID:9603, NCIT:C4729]
xref: DOID:9603 {source="MONDO:equivalentTo"}
xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4729 {source="DOID:9603", source="MONDO:equivalentTo"}
xref: SCTID:254738007 {source="DOID:9603", source="MONDO:equivalentTo"}
xref: UMLS:C0432529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140942"}
is_a: MONDO:0004187 {source="DOID:9603", source="NCIT:C4729"} ! nodular fasciitis

[Term]
id: MONDO:0004837
name: neurofibroma of the esophagus
def: "A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "esophageal neurofibroma" EXACT [NCIT:C5704]
synonym: "esophagus neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5704]
synonym: "neurofibroma of esophagus" EXACT [NCIT:C5704]
synonym: "neurofibroma of oesophagus" EXACT OMO:0003005 []
synonym: "neurofibroma of the esophagus" EXACT [NCIT:C5704]
synonym: "oesophagus neurofibroma" EXACT OMO:0003005 []
xref: DOID:961 {source="MONDO:equivalentTo"}
xref: MEDGEN:232164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5704 {source="MONDO:equivalentTo", source="DOID:961"}
xref: UMLS:C1333463 {source="MEDGEN:232164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016755 {source="DOID:961", source="MONDO:Redundant", source="NCIT:C5704"} ! neurofibroma
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C5704/inferred"} ! neoplasm of esophagus
intersection_of: MONDO:0016755 ! neurofibroma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0004838
name: orthostatic proteinuria
synonym: "postural albuminuria" EXACT [DOID:9617]
xref: DOID:9617 {source="MONDO:equivalentTo"}
xref: ICD10CM:R80.2 {source="DOID:9617"}
xref: ICD9:593.6 {source="DOID:9617"}
xref: MEDGEN:534880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155874000 {source="DOID:9617"}
xref: SCTID:32482005 {source="DOID:9617"}
xref: SCTID:77872002 {source="DOID:9617"}
xref: SCTID:78719009 {source="DOID:9617"}
xref: UMLS:C0232867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:534880"}
is_a: MONDO:0005240 {source="DOID:9617"} ! kidney disorder

[Term]
id: MONDO:0004839
name: obsolete neurofibroma
is_obsolete: true
replaced_by: MONDO:0016755

[Term]
id: MONDO:0004840
name: non-congenital cyst of kidney
xref: DOID:9621 {source="MONDO:equivalentTo"}
xref: ICD10CM:N28.1 {source="DOID:9621"}
xref: ICD9:593.2 {source="DOID:9621"}
xref: MEDGEN:541491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:105999006 {source="MONDO:equivalentTo", source="DOID:9621"}
xref: SCTID:155872001 {source="DOID:9621"}
xref: SCTID:197803002 {source="DOID:9621"}
xref: SCTID:266625006 {source="DOID:9621"}
xref: UMLS:C0268799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541491"}
is_a: MONDO:0002473 {source="DOID:9621"} ! cystic kidney disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0004841
name: kidney hypertrophy
def: "Global enlargement of the renal parenchyma in one or both kidneys." [NCIT:P378]
synonym: "hypertrophy of the kidney" EXACT [NCIT:C122991]
synonym: "renal Hypertrophy" EXACT [NCIT:C122991]
xref: DOID:9622 {source="MONDO:equivalentTo"}
xref: ICD10CM:N28.81 {source="DOID:9622", source="MONDO:equivalentTo"}
xref: ICD9:593.1 {source="DOID:9622", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122991 {source="DOID:9622", source="MONDO:equivalentTo"}
xref: SCTID:197800004 {source="DOID:9622"}
xref: SCTID:88531004 {source="DOID:9622", source="MONDO:equivalentTo"}
xref: UMLS:C0156259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510218"}
is_a: MONDO:0005240 {source="DOID:9622", source="NCIT:C122991/inferred"} ! kidney disorder

[Term]
id: MONDO:0004842
name: stomatitis
def: "Inflammation of the oral mucosa due to local or systemic factors." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of mouth mucosa" EXACT []
synonym: "mouth mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "mucositis oral" EXACT [NCIT:C26887]
synonym: "oral mucositis" EXACT [NCIT:C26887]
xref: DOID:9637 {source="MONDO:equivalentTo"}
xref: EFO:0009688 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K12.1 {source="DOID:9637"}
xref: ICD9:528.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:528.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:52511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013280 {source="DOID:9637", source="MONDO:equivalentTo"}
xref: NCIT:C26887 {source="DOID:9637", source="MONDO:equivalentTo"}
xref: SCTID:155660009 {source="DOID:9637"}
xref: SCTID:196527002 {source="DOID:9637"}
xref: SCTID:61170000 {source="DOID:9637", source="MONDO:equivalentTo"}
xref: SCTID:95361005 {source="DOID:9637"}
xref: UMLS:C0038362 {source="MEDGEN:52511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006858 {source="DOID:9637", source="MESH:D013280", source="MONDO:Entailed", source="NCIT:C26887/inferred"} ! mouth disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C26887/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0003729 ! mouth mucosa

[Term]
id: MONDO:0004843
name: pathologic nystagmus
def: "Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders." [NCIT:P378]
xref: DOID:9650 {source="MONDO:equivalentTo"}
xref: ICD10CM:H55.0 {source="DOID:9650"}
xref: ICD10CM:H55.00 {source="DOID:9650"}
xref: ICD9:379.50 {source="DOID:9650"}
xref: MEDGEN:45166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009759 {source="MONDO:equivalentTo", source="DOID:9650"}
xref: NCIT:C3282 {source="MONDO:otherHierarchy", source="DOID:9650"}
xref: SCTID:155205009 {source="DOID:9650"}
xref: SCTID:194171007 {source="DOID:9650"}
xref: SCTID:194172000 {source="DOID:9650"}
xref: SCTID:267750005 {source="DOID:9650"}
xref: SCTID:563001 {source="DOID:9650"}
xref: UMLS:C0028738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45166"}
is_a: MONDO:0001584 {source="DOID:9650"} ! ocular motility disease

[Term]
id: MONDO:0004844
name: oral mucosa leukoplakia
def: "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." [NCIT:C3187]
synonym: "leukokeratosis of oral mucosa" EXACT [NCIT:C3187]
synonym: "leukoplakia of oral mucosa" EXACT [NCIT:C3187]
synonym: "leukoplakia of the oral mucosa" EXACT [NCIT:C3187]
synonym: "oral keratoses" EXACT [NCIT:C3187]
synonym: "oral keratosis" EXACT [NCIT:C3187]
synonym: "oral leukoplakia" EXACT [NCIT:C3187]
xref: DOID:9655 {source="MONDO:equivalentTo"}
xref: ICD10CM:K13.2 {source="DOID:9655"}
xref: ICD10CM:K13.21 {source="DOID:9655"}
xref: ICD9:528.6 {source="DOID:9655", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007972 {source="MONDO:equivalentTo"}
xref: NCIT:C3187 {source="MONDO:equivalentTo"}
xref: SCTID:414603003 {source="MONDO:equivalentTo"}
xref: UMLS:C0023532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9738"}
is_a: MONDO:0006858 {source="DOID:9655", source="MESH:D007972/inferred", source="NCIT:C3187/inferred"} ! mouth disorder
is_a: MONDO:0043243 {source="MESH:D007972", source="MONDO:Redundant", source="NCIT:C3187"} ! leukoplakia
intersection_of: MONDO:0043243 ! leukoplakia
intersection_of: disease_has_location UBERON:0003729 ! mouth mucosa

[Term]
id: MONDO:0004845
name: aphthous stomatitis
def: "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring." [NCIT:P378]
synonym: "aphtha" EXACT [DOID:9663]
synonym: "aphthous ulceration" EXACT [DOID:9663]
synonym: "canker sore" RELATED [DOID:9663]
synonym: "oral aphthae" EXACT [DOID:9663, ICD9CM:528.2]
synonym: "oral aphthous ulcer" RELATED [DOID:9663]
synonym: "oral ulcer" EXACT [DOID:9663]
xref: DOID:9663 {source="MONDO:equivalentTo"}
xref: ICD9:528.2 {source="DOID:9663"}
xref: MEDGEN:20959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013281 {source="DOID:9663"}
xref: NCIT:C62546 {source="DOID:9663"}
xref: SCTID:110426005 {source="DOID:9663"}
xref: SCTID:155661008 {source="DOID:9663"}
xref: SCTID:196529004 {source="DOID:9663"}
xref: SCTID:196534000 {source="DOID:9663"}
xref: SCTID:196536003 {source="DOID:9663"}
xref: SCTID:303117009 {source="DOID:9663"}
xref: SCTID:321258009 {source="DOID:9663"}
xref: SCTID:322224003 {source="DOID:9663"}
xref: SCTID:367526005 {source="DOID:9663"}
xref: SCTID:398870000 {source="DOID:9663"}
xref: SCTID:426965005 {source="DOID:9663"}
xref: SCTID:427617000 {source="DOID:9663"}
xref: SCTID:83312008 {source="DOID:9663"}
xref: UMLS:C0038363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20959"}
is_a: MONDO:0004842 {source="DOID:9663"} ! stomatitis
relationship: excluded_subClassOf MONDO:0005318 {source="https://orcid.org/0000-0001-5208-3432"} ! canker sore
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5834/aphthous-stomatitis" xsd:anyURI {source="GARD:0005834"}

[Term]
id: MONDO:0004846
name: placental abruption
def: "Vaginal bleeding preceding the 20th week of gestation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "abruptio placenta" EXACT [DOID:9667]
synonym: "abruptio placentae" EXACT [DOID:9667]
synonym: "Abruptio placentae, premature separation of placenta" EXACT [NCIT:C26685]
synonym: "placental abruption" EXACT [MONDO:ambiguous]
synonym: "placental abruption (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "premature separation of placenta" EXACT [NCIT:C26685]
xref: DOID:9667 {source="MONDO:equivalentTo"}
xref: EFO:1001754 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0011419 {source="MONDO:otherHierarchy"}
xref: ICD10CM:O20.0 {source="DOID:9667"}
xref: ICD9:640.0 {source="DOID:9667"}
xref: ICD9:640.03 {source="DOID:9667"}
xref: ICD9:641.20 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:49 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000033 {source="DOID:9667"}
xref: MESH:D000037 {source="MONDO:equivalentTo"}
xref: NCIT:C112857 {source="DOID:9667", source="MONDO:otherHierarchy"}
xref: NCIT:C26685 {source="MONDO:equivalentTo"}
xref: SCTID:156098004 {source="DOID:9667"}
xref: SCTID:198882006 {source="DOID:9667"}
xref: SCTID:198885008 {source="DOID:9667"}
xref: SCTID:22689002 {source="DOID:9667"}
xref: SCTID:415105001 {source="MONDO:equivalentTo"}
xref: SCTID:54048003 {source="DOID:9667"}
xref: UMLS:C0000832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:49"}
is_a: MONDO:0005917 {source="DOID:9667", source="MESH:D000037", source="NCIT:C26685/inferred"} ! placenta disorder
property_value: IAO:0000589 "placental abruption (disease)" xsd:string

[Term]
id: MONDO:0004847
name: senile cataract
def: "A cataract with no obvious cause occurring in persons over 50 years old." [https://medical-dictionary.thefreedictionary.com/senile+cataract]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9669 {source="MONDO:equivalentTo"}
xref: ICD10CM:H25 {source="DOID:9669"}
xref: ICD9:366.1 {source="DOID:9669"}
xref: ICD9:366.10 {source="DOID:9669", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:11372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35012 {source="DOID:9669", source="MONDO:equivalentTo"}
xref: SCTID:155127007 {source="DOID:9669"}
xref: SCTID:193582000 {source="DOID:9669"}
xref: SCTID:193583005 {source="DOID:9669"}
xref: SCTID:193594009 {source="DOID:9669"}
xref: SCTID:39450006 {source="DOID:9669", source="MONDO:equivalentTo"}
xref: UMLS:C0036646 {source="MEDGEN:11372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:9669", source="NCIT:C35012/inferred"} ! cataract

[Term]
id: MONDO:0004848
name: ulcerative stomatitis
def: "Inflammation of the mouth mucosa associated with the presence of ulcers." [NCIT:C35039]
subset: otar {source="MONDO:OTAR"}
synonym: "ulcerative stomatitis" EXACT [NCIT:C35039]
xref: DOID:9673 {source="MONDO:equivalentTo"}
xref: ICD10CM:K12.1 {source="DOID:9673"}
xref: ICD9:528.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005892 {source="MONDO:relatedTo", source="DOID:9673"}
xref: NCIT:C35039 {source="MONDO:equivalentTo", source="DOID:9673"}
xref: SCTID:450005 {source="MONDO:equivalentTo", source="DOID:9673"}
xref: UMLS:C0038367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21335"}
is_a: MONDO:0004842 {source="DOID:9673", source="NCIT:C35039"} ! stomatitis
relationship: disease_has_feature HP:0000155 ! Oral ulcer

[Term]
id: MONDO:0004849
name: pulmonary emphysema
def: "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." [NCIT:C3348]
subset: otar {source="MONDO:OTAR"}
synonym: "emphysema" EXACT [MONDO:0005024]
synonym: "emphysema, pulmonary" EXACT [NCIT:C3348]
xref: DOID:9675 {source="EFO:0000464", source="MONDO:equivalentTo"}
xref: EFO:0000464 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J43 {source="MONDO:equivalentTo"}
xref: ICD10CM:J43.8 {source="DOID:9675"}
xref: ICD9:492 {source="EFO:0000464"}
xref: ICD9:492.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:9675"}
xref: MEDGEN:18764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004646 {source="EFO:0000464", source="MONDO:equivalentTo"}
xref: MESH:D011656 {source="MONDO:equivalentTo"}
xref: NCIT:C3348 {source="EFO:0000464", source="MONDO:equivalentTo"}
xref: SCTID:195962007 {source="DOID:9675"}
xref: SCTID:195965009 {source="DOID:9675"}
xref: SCTID:196230005 {source="DOID:9675"}
xref: SCTID:266357002 {source="DOID:9675"}
xref: SCTID:49158009 {source="EFO:0000464"}
xref: SCTID:87433001 {source="MONDO:equivalentTo"}
xref: UMLS:C0034067 {source="MEDGEN:18764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005002 {source="DOID:9675", source="MESH:D011656", source="NCIT:C3348"} ! chronic obstructive pulmonary disease
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung

[Term]
id: MONDO:0004850
name: obsolete yellow fever
is_obsolete: true
replaced_by: MONDO:0020502

[Term]
id: MONDO:0004851
name: toxic myocarditis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:9694 {source="MONDO:equivalentTo"}
xref: ICD9:422.93 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9694"}
xref: MEDGEN:510049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:31993003 {source="MONDO:equivalentTo", source="DOID:9694"}
xref: UMLS:C0155691 {source="MONDO:equivalentTo", source="MEDGEN:510049", source="MONDO:MEDGEN"}
is_a: MONDO:0002815 {source="DOID:9694"} ! acute myocarditis

[Term]
id: MONDO:0004852
name: gonococcal keratitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:9697 {source="MONDO:equivalentTo"}
xref: ICD10CM:A54.33 {source="MONDO:equivalentTo", source="DOID:9697"}
xref: ICD9:098.43 {source="DOID:9697"}
xref: MEDGEN:509209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186924001 {source="DOID:9697"}
xref: SCTID:40149008 {source="MONDO:equivalentTo", source="DOID:9697"}
xref: UMLS:C0153214 {source="MEDGEN:509209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003085 {source="DOID:9697"} ! keratitis
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
intersection_of: disease_has_inflammation_site UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0004853
name: gonococcal endophthalmia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:9698 {source="MONDO:equivalentTo"}
xref: ICD10CM:A54.39 {source="DOID:9698"}
xref: ICD9:098.42 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9698"}
xref: MEDGEN:509208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111807001 {source="MONDO:equivalentTo", source="DOID:9698"}
xref: SCTID:186923007 {source="DOID:9698"}
xref: UMLS:C0153213 {source="MEDGEN:509208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0016047 {source="DOID:9698", source="MONDO:Entailed", source="MONDO:Redundant"} ! endophthalmitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
intersection_of: disease_has_inflammation_site UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0004854
name: ophthalmia neonatorum
def: "Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gonococcal conjunctivitis" RELATED EXCLUDE [DOID:9699]
synonym: "gonococcal conjunctivitis (neonatorum)" EXACT [DOID:9699, ICD9CM:098.40]
synonym: "gonococcal ophthalmia neonatorum" RELATED [DOID:9699]
synonym: "neonatal conjunctivitis" EXACT [DOID:9699]
xref: DOID:9699 {source="MONDO:equivalentTo"}
xref: ICD10CM:P39.1 {source="DOID:9699"}
xref: ICD9:771.6 {source="DOID:9699"}
xref: MEDGEN:14489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009878 {source="MONDO:equivalentTo"}
xref: NCIT:C116815 {source="DOID:9699", source="MONDO:equivalentTo"}
xref: SCTID:157120005 {source="DOID:9699"}
xref: SCTID:206345004 {source="DOID:9699"}
xref: SCTID:206354001 {source="DOID:9699"}
xref: SCTID:34298002 {source="DOID:9699", source="MONDO:equivalentTo"}
xref: SCTID:80881003 {source="DOID:9699"}
xref: UMLS:C0029076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14489"}
is_a: MONDO:0003799 {source="DOID:9699/inferred", source="MESH:D009878/inferred", source="MONDO:Redundant", source="NCIT:C116815"} ! conjunctivitis
is_a: MONDO:0004277 {source="MESH:D009878", source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0006668 {source="DOID:9699", source="MESH:D009878", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial conjunctivitis

[Term]
id: MONDO:0004855
name: tenosynovitis
def: "Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced." [MESH:D013717]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Inflammation of tendon sheath" EXACT [DOID:970]
synonym: "inflammation of tendon sheath" EXACT []
synonym: "tendon sheath inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Tenosynovitides" EXACT [MESH:D013717]
xref: DOID:970 {source="MONDO:equivalentTo"}
xref: EFO:1001435 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:52670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013717 {source="MONDO:equivalentTo", source="DOID:970"}
xref: SCTID:156666009 {source="DOID:970"}
xref: SCTID:240035004 {source="DOID:970"}
xref: SCTID:268092005 {source="DOID:970"}
xref: SCTID:67801009 {source="MONDO:equivalentTo", source="DOID:970"}
xref: UMLS:C0039520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52670"}
is_a: MONDO:0004857 {source="DOID:970", source="MESH:D013717", source="MONDO:Redundant"} ! tendinitis
is_a: MONDO:0006816 {source="DOID:970"} ! arthropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000304 ! tendon sheath

[Term]
id: MONDO:0004856
name: rosacea conjunctivitis
xref: DOID:9709 {source="MONDO:equivalentTo"}
xref: ICD9:372.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9709"}
xref: MEDGEN:509812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:10128002 {source="MONDO:equivalentTo", source="DOID:9709"}
xref: UMLS:C0155152 {source="MEDGEN:509812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003799 {source="DOID:9709"} ! conjunctivitis

[Term]
id: MONDO:0004857
name: tendinitis
def: "Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body." [NCIT:C97141]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammation of tendon" EXACT []
synonym: "tendon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "tendonitis" EXACT [MONDO:patterns/inflammatory_disease_by_site, NCIT:C97141]
xref: DOID:971 {source="MONDO:equivalentTo"}
xref: ICD10CM:M77.9 {source="DOID:971"}
xref: MEDGEN:21094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052256 {source="DOID:971"}
xref: NCIT:C97141 {source="MONDO:equivalentTo", source="DOID:971"}
xref: SCTID:156665008 {source="DOID:971"}
xref: SCTID:202893001 {source="DOID:971"}
xref: SCTID:267996008 {source="DOID:971"}
xref: SCTID:268091003 {source="DOID:971"}
xref: SCTID:312785002 {source="DOID:971"}
xref: SCTID:34840004 {source="MONDO:equivalentTo", source="DOID:971"}
xref: UMLS:C0039503 {source="MEDGEN:21094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="MONDO:Entailed"} ! connective tissue disorder
is_a: MONDO:0021167 {source="DOID:971"} ! myositis disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000043 ! tendon
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0004858
name: occlusion of gallbladder
def: "Blockage of the normal flow of the contents of the gallbladder." [NCIT:P378]
synonym: "obstruction of gallbladder" EXACT [DOID:9714, ICD9CM:575.2]
xref: DOID:9714 {source="MONDO:equivalentTo"}
xref: ICD10CM:K82.0 {source="DOID:9714", source="MONDO:equivalentTo"}
xref: ICD9:575.2 {source="DOID:9714"}
xref: MEDGEN:57845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78308 {source="DOID:9714", source="MONDO:otherHierarchy"}
xref: SCTID:197415009 {source="DOID:9714"}
xref: SCTID:197416005 {source="DOID:9714", source="MONDO:equivalentTo"}
xref: SCTID:197420009 {source="DOID:9714"}
xref: SCTID:75726005 {source="DOID:9714"}
xref: UMLS:C0156214 {source="MEDGEN:57845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005281 {source="DOID:9714"} ! gallbladder disorder

[Term]
id: MONDO:0004859
name: hydrops of gallbladder
xref: DOID:9717 {source="MONDO:equivalentTo"}
xref: ICD10CM:K82.1 {source="DOID:9717", source="MONDO:equivalentTo"}
xref: ICD9:575.3 {source="DOID:9717", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197421008 {source="DOID:9717"}
xref: SCTID:47312008 {source="DOID:9717", source="MONDO:equivalentTo"}
xref: UMLS:C0152445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509035"}
is_a: MONDO:0005281 {source="DOID:9717"} ! gallbladder disorder

[Term]
id: MONDO:0004860
name: vitreous disorder
def: "A disease involving the vitreous humor." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of vitreous humor" EXACT [MONDO:patterns/location_top]
synonym: "disease of vitreous humour" EXACT OMO:0003005 []
synonym: "disease or disorder of vitreous humor" EXACT []
synonym: "disease or disorder of vitreous humour" EXACT OMO:0003005 []
synonym: "disorder of vitreous humor" EXACT [MONDO:patterns/location_top]
synonym: "disorder of vitreous humour" EXACT OMO:0003005 []
synonym: "vitreous humor disease" EXACT [MONDO:patterns/location]
synonym: "vitreous humor disease or disorder" EXACT [MONDO:patterns/location]
synonym: "vitreous humour disease" EXACT OMO:0003005 []
synonym: "vitreous humour disease or disorder" EXACT OMO:0003005 []
xref: DOID:9720 {source="MONDO:equivalentTo"}
xref: ICD10CM:H43.3 {source="DOID:9720"}
xref: ICD10CM:H43.39 {source="DOID:9720"}
xref: ICD9:379.24 {source="DOID:9720"}
xref: MEDGEN:1843447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194154006 {source="DOID:9720"}
xref: SCTID:194636006 {source="DOID:9720"}
xref: UMLS:C0700141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843447"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001797 ! vitreous humor

[Term]
id: MONDO:0004861
name: ophthalmia nodosa
xref: DOID:9722 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.24 {source="DOID:9722"}
xref: ICD9:360.14 {source="DOID:9722", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:12371008 {source="DOID:9722", source="MONDO:equivalentTo"}
xref: UMLS:C0154775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509654"}
is_a: MONDO:0005328 {source="DOID:9722"} ! eye disorder

[Term]
id: MONDO:0004862
name: vitreous abscess
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:9723 {source="MONDO:equivalentTo"}
xref: ICD9:360.04 {source="DOID:9723", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:48142003 {source="DOID:9723", source="MONDO:equivalentTo"}
xref: UMLS:C0042904 {source="MEDGEN:508292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004860 {source="DOID:9723"} ! vitreous disorder
is_a: MONDO:0004863 {source="DOID:9723"} ! purulent endophthalmitis
is_a: MONDO:0005227 {source="https://orcid.org/0000-0002-2825-0621"} ! abscess
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4592" xsd:anyURI

[Term]
id: MONDO:0004863
name: purulent endophthalmitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:9724 {source="MONDO:equivalentTo"}
xref: ICD10CM:H44.0 {source="DOID:9724", source="MONDO:equivalentTo"}
xref: ICD10CM:H44.00 {source="DOID:9724"}
xref: ICD9:360.0 {source="DOID:9724"}
xref: ICD9:360.00 {source="DOID:9724", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:537163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193267009 {source="DOID:9724"}
xref: SCTID:193271007 {source="DOID:9724"}
xref: SCTID:41720003 {source="DOID:9724", source="MONDO:equivalentTo"}
xref: UMLS:C0259800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:537163"}
is_a: MONDO:0016047 {source="DOID:9724"} ! endophthalmitis

[Term]
id: MONDO:0004864
name: acute allergic mucoid otitis media
def: "A blue drum syndrome caused by an allergen." [DOID:9735, PMID:15301306]
xref: DOID:9735 {source="MONDO:equivalentTo"}
xref: ICD9:381.05 {source="DOID:9735", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194242003 {source="DOID:9735"}
xref: SCTID:8326008 {source="DOID:9735", source="MONDO:equivalentTo"}
xref: UMLS:C0155419 {source="MEDGEN:509957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004865 {source="DOID:9735"} ! blue drum syndrome
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004865
name: blue drum syndrome
def: "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color." [DOID:9736, http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false, http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false]
synonym: "acute mucoid otitis media" EXACT [DOID:9736, ICD9CM:381.02]
synonym: "acute non-suppurative otitis media - mucoid" RELATED []
synonym: "blue drum syndrome" EXACT []
xref: DOID:9736 {source="MONDO:equivalentTo"}
xref: ICD9:381.02 {source="DOID:9736", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:583099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:52353000 {source="DOID:9736", source="MONDO:equivalentTo"}
xref: UMLS:C0395863 {source="MEDGEN:583099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002738 {source="DOID:9736"} ! acute transudative otitis media

[Term]
id: MONDO:0004866
name: eustachian tube disorder
def: "A disease involving the pharyngotympanic tube." [MONDO:patterns/location_top]
subset: otar {source="MONDO:OTAR"}
synonym: "auditory tube disorder" RELATED []
synonym: "disease of eustachian tube" RELATED []
synonym: "disease of pharyngotympanic tube" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pharyngotympanic tube" EXACT []
synonym: "disorder of eustachian tube" RELATED []
synonym: "disorder of pharyngotympanic tube" EXACT [MONDO:patterns/location_top]
synonym: "eustachian tube disorder" EXACT []
synonym: "pharyngotympanic tube disease" EXACT [MONDO:patterns/location]
synonym: "pharyngotympanic tube disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:9739 {source="MONDO:equivalentTo"}
xref: EFO:0009667 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H68 {source="MONDO:equivalentTo"}
xref: ICD9:381.8 {source="DOID:9739"}
xref: ICD9:381.89 {source="MONDO:relatedTo", source="DOID:9739", source="MONDO:i2s"}
xref: ICD9:381.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194277003 {source="DOID:9739"}
xref: SCTID:194278008 {source="DOID:9739"}
xref: SCTID:69494008 {source="MONDO:equivalentTo"}
xref: UMLS:C0271468 {source="MEDGEN:543364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002393 ! pharyngotympanic tube
relationship: excluded_subClassOf MONDO:0001212 {source="DOID:9739", source="https://orcid.org/0000-0001-5208-3432"} ! non-suppurative otitis media

[Term]
id: MONDO:0004867
name: upper respiratory tract disorder
def: "A disease involving the upper respiratory tract." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of upper respiratory tract" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of upper respiratory tract" EXACT []
synonym: "disorder of upper respiratory tract" EXACT [MONDO:patterns/location_top]
synonym: "upper respiratory tract disease" EXACT [MONDO:patterns/location]
synonym: "upper respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:974 {source="MONDO:equivalentTo"}
xref: ICD10CM:J00-J06 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:478.1 {source="DOID:974"}
xref: ICD9:478.19 {source="DOID:974"}
xref: ICD9:478.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:538406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:195823002 {source="DOID:974"}
xref: SCTID:201060008 {source="MONDO:equivalentTo"}
xref: SCTID:266346007 {source="DOID:974"}
xref: UMLS:C0264221 {source="MEDGEN:538406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="DOID:974", source="MONDO:Redundant"} ! respiratory system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001557 ! upper respiratory tract

[Term]
id: MONDO:0004868
name: biliary tract disorder
def: "A disease involving the biliary tree." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "biliary tree disease" EXACT [MONDO:patterns/location]
synonym: "biliary tree disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of biliary tree" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of biliary tree" EXACT []
synonym: "disorder of biliary tree" EXACT [MONDO:patterns/location_top]
xref: DOID:9741 {source="MONDO:equivalentTo"}
xref: EFO:0009534 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K80-K87 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K83.9 {source="DOID:9741"}
xref: ICD9:576.9 {source="DOID:9741"}
xref: MEDGEN:108201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001660 {source="MONDO:equivalentTo", source="DOID:9741"}
xref: SCTID:105997008 {source="MONDO:equivalentTo", source="DOID:9741"}
xref: SCTID:155830002 {source="DOID:9741"}
xref: SCTID:155832005 {source="DOID:9741"}
xref: SCTID:266544009 {source="DOID:9741"}
xref: SCTID:266545005 {source="DOID:9741"}
xref: SCTID:5235004 {source="DOID:9741"}
xref: UMLS:C0549613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108201"}
is_a: MONDO:0002515 {source="DOID:9741", source="MONDO:Entailed", source="MONDO:Redundant"} ! hepatobiliary disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001173 ! biliary tree

[Term]
id: MONDO:0004869
name: pelvic varices
def: "A varicose disease that involves the pelvic region of trunk." [MONDO:patterns/location]
synonym: "pelvic region of trunk varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of pelvic region of trunk" EXACT [MONDO:design_pattern]
xref: DOID:9742 {source="MONDO:equivalentTo"}
xref: ICD10CM:I86.2 {source="MONDO:equivalentTo", source="DOID:9742"}
xref: ICD9:456.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9742"}
xref: MEDGEN:510082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:17406005 {source="MONDO:equivalentTo", source="DOID:9742"}
xref: SCTID:195481006 {source="DOID:9742"}
xref: SCTID:266271008 {source="DOID:9742"}
xref: UMLS:C0155795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510082"}
is_a: MONDO:0008638 {source="DOID:9742", source="MONDO:Redundant"} ! varicose disease
intersection_of: MONDO:0008638 ! varicose disease
intersection_of: disease_has_location UBERON:0002355 ! pelvic region of trunk
relationship: disease_has_basis_in_dysfunction_of UBERON:0036268 ! pelvic vein

[Term]
id: MONDO:0004870
name: obsolete diabetic neuropathy
is_obsolete: true
replaced_by: MONDO:0006626

[Term]
id: MONDO:0004871
name: perianal hematoma
synonym: "external thrombosed haemorrhoids" EXACT OMO:0003005 []
synonym: "external thrombosed hemorrhoids" EXACT [DOID:9745]
synonym: "Thrombosed external haemorrhoids" EXACT OMO:0003005 []
synonym: "Thrombosed external hemorrhoids" EXACT [DOID:9745]
xref: DOID:9745 {source="MONDO:equivalentTo"}
xref: ICD10CM:K64.5 {source="DOID:9745"}
xref: ICD9:455.4 {source="DOID:9745", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:155474006 {source="DOID:9745"}
xref: SCTID:157525008 {source="DOID:9745"}
xref: SCTID:211490002 {source="DOID:9745"}
xref: SCTID:26373009 {source="DOID:9745", source="MONDO:equivalentTo"}
xref: SCTID:269372002 {source="DOID:9745"}
xref: UMLS:C0155784 {source="MEDGEN:510079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004872 {source="DOID:9745"} ! hemorrhoid

[Term]
id: MONDO:0004872
name: hemorrhoid
def: "Dilated veins in the anal canal." [NCIT:C26792]
subset: otar {source="MONDO:OTAR"}
synonym: "Haemorrhoids" EXACT OMO:0003005 []
synonym: "hemorrhoid" EXACT [NCIT:C26792]
synonym: "hemorrhoidal disease" EXACT [DOID:9746]
synonym: "Hemorrhoids" EXACT [NCIT:C26792]
xref: DOID:9746 {source="MONDO:equivalentTo"}
xref: EFO:0009552 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K64 {source="DOID:9746"}
xref: ICD9:455 {source="DOID:9746"}
xref: ICD9:455.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006484 {source="DOID:9746", source="MONDO:equivalentTo"}
xref: NCIT:C26792 {source="DOID:9746", source="MONDO:equivalentTo"}
xref: SCTID:155469003 {source="DOID:9746"}
xref: SCTID:155477004 {source="DOID:9746"}
xref: SCTID:195472000 {source="DOID:9746"}
xref: SCTID:70153002 {source="DOID:9746", source="MONDO:equivalentTo"}
xref: UMLS:C0019112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5507"}
is_a: MONDO:0004869 {source="DOID:9746"} ! pelvic varices

[Term]
id: MONDO:0004873
name: internal hemorrhoid
def: "A hemorrhoid which originates above the dentate line." [NCIT:C35319]
synonym: "internal hemorrhoid" EXACT [NCIT:C35319]
xref: DOID:9749 {source="MONDO:equivalentTo"}
xref: ICD9:455.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:455.6 {source="DOID:9749"}
xref: MEDGEN:75549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35319 {source="MONDO:equivalentTo"}
xref: SCTID:82985000 {source="DOID:9749"}
xref: SCTID:90458007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265034 {source="MEDGEN:75549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004872 {source="DOID:9749", source="NCIT:C35319"} ! hemorrhoid

[Term]
id: MONDO:0004874
name: ganglion or cyst of synovium/tendon/bursa
xref: DOID:9754 {source="MONDO:equivalentTo"}
xref: ICD9:727.49 {source="DOID:9754"}
xref: MEDGEN:578881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0349693 {source="MEDGEN:578881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:9754"} ! arthropathy

[Term]
id: MONDO:0004875
name: xanthogranulomatous cholecystitis
def: "Cholecystitis that is characterized by nodules containing lipid." [NCIT:P378]
synonym: "CX" RELATED ABBREVIATION [GARD:0009451]
xref: DOID:9766 {source="MONDO:equivalentTo"}
xref: MEDGEN:235004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536762 {source="DOID:9766", source="MONDO:equivalentTo"}
xref: NCIT:C35792 {source="DOID:9766", source="MONDO:equivalentTo"}
xref: SCTID:448286002 {source="DOID:9766", source="MONDO:equivalentTo"}
xref: UMLS:C1337035 {source="MEDGEN:235004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002155 {source="DOID:9766", source="MESH:C536762", source="NCIT:C35792"} ! cholecystitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9451/xanthogranulomatous-cholecystitis" xsd:anyURI {source="GARD:0009451"}

[Term]
id: MONDO:0004876
name: myocardial stunning
def: "Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity." [MESH:D017682]
xref: DOID:9767 {source="MONDO:equivalentTo"}
xref: MEDGEN:61526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017682 {source="DOID:9767", source="MONDO:equivalentTo"}
xref: UMLS:C0206146 {source="MEDGEN:61526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:9767"} ! myocardial infarction

[Term]
id: MONDO:0004877
name: transient neonatal thrombocytopenia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:9771 {source="MONDO:equivalentTo"}
xref: ICD10CM:P61.0 {source="MONDO:equivalentTo", source="DOID:9771"}
xref: ICD9:776.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9771"}
xref: MEDGEN:472906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:206514004 {source="DOID:9771"}
xref: SCTID:23205009 {source="MONDO:equivalentTo", source="DOID:9771"}
xref: UMLS:C0158991 {source="MEDGEN:472906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0024277 ! neonatal thrombocytopenia
intersection_of: has_characteristic HP:0025153 ! Transient
relationship: excluded_subClassOf MONDO:0001241 {source="DOID:9771", source="https://orcid.org/0000-0001-5208-3432"} ! transient neonatal neutropenia

[Term]
id: MONDO:0004878
name: female breast upper-outer quadrant cancer
xref: DOID:9773 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50.41 {source="DOID:9773"}
xref: ICD9:174.4 {source="DOID:9773"}
xref: MEDGEN:509326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:188154003 {source="MONDO:equivalentTo", source="DOID:9773"}
xref: UMLS:C0153552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509326"}
is_a: MONDO:0004379 {source="DOID:9773"} ! female breast carcinoma

[Term]
id: MONDO:0004879
name: senile atrophy of choroid
xref: DOID:9776 {source="MONDO:equivalentTo"}
xref: ICD9:363.41 {source="DOID:9776", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:38513001 {source="DOID:9776", source="MONDO:equivalentTo"}
xref: UMLS:C0154891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509701"}
is_a: MONDO:0004885 {source="DOID:9776"} ! choroidal sclerosis

[Term]
id: MONDO:0004880
name: bowel dysfunction
def: "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of lower digestive tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_by_dysfunctional_structure]
synonym: "lower digestive tract disease" EXACT [MONDO:design_pattern]
xref: DOID:9779 {source="MONDO:equivalentTo"}
xref: ICD10CM:K59.9 {source="DOID:9779"}
xref: ICD9:564.9 {source="DOID:9779"}
xref: MEDGEN:384468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:235594008 {source="MONDO:equivalentTo"}
xref: SCTID:81120009 {source="DOID:9779"}
xref: UMLS:C2004461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384468"}
is_a: MONDO:0005020 {source="DOID:9779"} ! intestinal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0004907 ! lower digestive tract

[Term]
id: MONDO:0004881
name: myositis fibrosa
def: "A form of myositis that is characterized by the formation of connective tissue within the muscle." [NCIT:C26985]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "interstitial myositis" EXACT [DOID:9788, ICD9CM:728.81, NCIT:C26985]
xref: DOID:9788 {source="MONDO:equivalentTo"}
xref: ICD10CM:M60.1 {source="DOID:9788", source="MONDO:equivalentTo"}
xref: ICD9:728.81 {source="DOID:9788", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26985 {source="DOID:9788", source="MONDO:equivalentTo"}
xref: SCTID:55925001 {source="DOID:9788", source="MONDO:equivalentTo"}
xref: UMLS:C0158362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57855"}
is_a: MONDO:0021167 {source="DOID:9788", source="NCIT:C26985"} ! myositis disease

[Term]
id: MONDO:0004882
name: angioid streaks of choroid
def: "A angioid streaks that involves the optic choroid." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angioid streaks of optic choroid" EXACT [MONDO:design_pattern]
synonym: "optic choroid angioid streaks" EXACT [MONDO:patterns/location]
xref: DOID:979 {source="MONDO:equivalentTo"}
xref: ICD9:363.43 {source="MONDO:equivalentTo", source="DOID:979", source="MONDO:i2s"}
xref: MEDGEN:507444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:86103006 {source="MONDO:equivalentTo", source="DOID:979"}
xref: UMLS:C0002983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507444"}
is_a: MONDO:0004885 {source="DOID:979", source="MONDO:Entailed"} ! choroidal sclerosis
is_a: MONDO:0011782 {source="DOID:979", source="MONDO:Entailed", source="MONDO:Redundant"} ! angioid streaks
intersection_of: MONDO:0011782 ! angioid streaks
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0004883
name: hereditary choroidal atrophy
xref: DOID:9794 {source="MONDO:equivalentTo"}
xref: ICD10CM:H31.2 {source="DOID:9794"}
xref: ICD10CM:H31.20 {source="DOID:9794"}
xref: ICD9:363.5 {source="DOID:9794"}
xref: ICD9:363.50 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9794"}
xref: MEDGEN:509703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193465004 {source="DOID:9794"}
xref: SCTID:193473008 {source="DOID:9794"}
xref: SCTID:74469006 {source="MONDO:equivalentTo", source="DOID:9794"}
xref: UMLS:C0154893 {source="MEDGEN:509703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004885 {source="DOID:9794"} ! choroidal sclerosis

[Term]
id: MONDO:0004884
name: eye degenerative disorder
def: "A neurodegenerative disease that involves the eye." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "degenerative disorder of eye" EXACT []
synonym: "degenerative disorder of globe" RELATED []
synonym: "eye neurodegenerative disease" EXACT [MONDO:patterns/location]
synonym: "eyeball of camera-type eye neurodegenerative disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "neurodegenerative disease of eyeball of camera-type eye" EXACT [MONDO:design_pattern]
xref: DOID:9799 {source="MONDO:equivalentTo"}
xref: ICD10CM:H44.30 {source="DOID:9799"}
xref: ICD10CM:H44.5 {source="DOID:9799", source="MONDO:equivalentTo"}
xref: ICD9:360.2 {source="DOID:9799"}
xref: ICD9:360.20 {source="DOID:9799", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:360.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:360.4 {source="DOID:9799"}
xref: ICD9:360.40 {source="DOID:9799"}
xref: MEDGEN:509655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193275003 {source="DOID:9799"}
xref: SCTID:193279009 {source="DOID:9799"}
xref: SCTID:193285002 {source="DOID:9799"}
xref: SCTID:193292007 {source="DOID:9799"}
xref: SCTID:62585004 {source="DOID:9799", source="MONDO:equivalentTo"}
xref: UMLS:C0154777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509655"}
is_a: MONDO:0005328 {source="DOID:9799", source="MONDO:Redundant"} ! eye disorder
is_a: MONDO:0005559 {source="DOID:9799", source="MONDO:Redundant"} ! neurodegenerative disease
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0004885
name: choroidal sclerosis
def: "A neurodegenerative disease that involves the optic choroid." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "choroidal degenerations" EXACT [DOID:980, ICD9CM:363.4]
synonym: "neurodegenerative disease of optic choroid" EXACT [MONDO:design_pattern]
synonym: "optic choroid neurodegenerative disease" EXACT [MONDO:patterns/location]
xref: DOID:980 {source="MONDO:equivalentTo"}
xref: ICD10CM:H31.1 {source="DOID:980"}
xref: ICD10CM:H31.10 {source="DOID:980"}
xref: ICD9:363.4 {source="DOID:980"}
xref: ICD9:363.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:980"}
xref: MEDGEN:137998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535358 {source="MONDO:equivalentTo", source="DOID:980"}
xref: SCTID:193461008 {source="DOID:980"}
xref: SCTID:193464000 {source="DOID:980"}
xref: SCTID:247199007 {source="DOID:980"}
xref: SCTID:267617003 {source="DOID:980"}
xref: SCTID:406446000 {source="MONDO:equivalentTo", source="DOID:980"}
xref: SCTID:47638000 {source="DOID:980"}
xref: UMLS:C0344297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137998"}
is_a: MONDO:0001898 {source="MESH:C535358", source="MONDO:Redundant"} ! optic choroid disorder
is_a: MONDO:0004884 {source="DOID:980", source="MONDO:Redundant"} ! eye degenerative disorder
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0004886
name: diffuse secondary choroid atrophy
xref: DOID:981 {source="MONDO:equivalentTo"}
xref: ICD10CM:H31.12 {source="DOID:981"}
xref: ICD9:363.42 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:981"}
xref: MEDGEN:509702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1843008 {source="DOID:981"}
xref: SCTID:193463006 {source="MONDO:equivalentTo", source="DOID:981"}
xref: UMLS:C0154892 {source="MEDGEN:509702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004885 {source="DOID:981"} ! choroidal sclerosis

[Term]
id: MONDO:0004887
name: obsolete polyarteritis nodosa
is_obsolete: true
replaced_by: MONDO:0019170

[Term]
id: MONDO:0004888
name: partial circumpapillary choroid dystrophy
xref: DOID:9811 {source="MONDO:equivalentTo"}
xref: ICD9:363.51 {source="DOID:9811", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193466003 {source="DOID:9811", source="MONDO:equivalentTo"}
xref: SCTID:42175004 {source="DOID:9811"}
xref: UMLS:C0154895 {source="MEDGEN:509704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004883 {source="DOID:9811"} ! hereditary choroidal atrophy

[Term]
id: MONDO:0004889
name: total central choroidal atrophy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central gyrate choroidal dystrophy" RELATED []
synonym: "choroidal dystrophy, serpiginous" EXACT [DOID:9820]
synonym: "helicoid choroid dystrophy" RELATED []
synonym: "total central choroid atrophy" RELATED []
synonym: "total central choroidal atrophy" EXACT []
synonym: "total central dystrophy of choroid" RELATED []
xref: DOID:9820 {source="MONDO:equivalentTo"}
xref: ICD9:363.54 {source="DOID:9820", source="MONDO:relatedTo"}
xref: MEDGEN:509706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:12778004 {source="DOID:9820"}
xref: SCTID:193469005 {source="DOID:9820"}
xref: SCTID:392049002 {source="DOID:9820", source="MONDO:equivalentTo"}
xref: UMLS:C0154898 {source="MEDGEN:509706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008982 ! central areolar choroidal dystrophy
is_a: MONDO:0010557 ! choroideremia
relationship: excluded_subClassOf MONDO:0004890 {source="DOID:9820", source="https://orcid.org/0000-0001-5208-3432"} ! partial central choroid dystrophy

[Term]
id: MONDO:0004890
name: partial central choroid dystrophy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "choroidal dystrophy, central areolar" EXACT [DOID:9822]
synonym: "circinate choroidal dystrophy" RELATED []
synonym: "partial central choroid dystrophy" EXACT []
synonym: "partial central dystrophy of choroid" RELATED []
xref: DOID:9822 {source="MONDO:equivalentTo"}
xref: ICD9:363.53 {source="DOID:9822", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:573145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200939 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:193468002 {source="DOID:9822", source="MONDO:equivalentTo"}
xref: SCTID:80526002 {source="DOID:9822"}
xref: UMLS:C0339427 {source="MONDO:equivalentTo", source="MEDGEN:573145", source="MONDO:MEDGEN"}
is_a: MONDO:0008982 ! central areolar choroidal dystrophy
relationship: excluded_subClassOf MONDO:0004883 {source="DOID:9822", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary choroidal atrophy

[Term]
id: MONDO:0004891
name: hyperopia
def: "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)" [MESH:D006956]
subset: otar {source="MONDO:OTAR"}
synonym: "Far-sightedness" EXACT [DOID:9834]
synonym: "hypermetropia" EXACT [DOID:9834, ICD9CM:367.0]
xref: DOID:9834 {source="MONDO:equivalentTo"}
xref: ICD10CM:H52.0 {source="DOID:9834", source="MONDO:equivalentTo"}
xref: ICD9:367.0 {source="DOID:9834", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006956 {source="DOID:9834", source="MONDO:equivalentTo"}
xref: SCTID:155132008 {source="DOID:9834"}
xref: SCTID:38101003 {source="DOID:9834", source="MONDO:equivalentTo"}
xref: UMLS:C0020490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43780"}
is_a: MONDO:0004892 {source="DOID:9834", source="MESH:D006956"} ! refractive error

[Term]
id: MONDO:0004892
name: refractive error
def: "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9835 {source="MONDO:equivalentTo"}
xref: ICD10CM:H49-H52 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H52.7 {source="DOID:9835"}
xref: MEDGEN:20508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012030 {source="DOID:9835", source="MONDO:equivalentTo"}
xref: NCIT:C87145 {source="DOID:9835", source="MONDO:otherHierarchy"}
xref: SCTID:21324001 {source="DOID:9835"}
xref: SCTID:267723000 {source="DOID:9835"}
xref: SCTID:314027003 {source="DOID:9835"}
xref: SCTID:39021009 {source="DOID:9835", source="MONDO:equivalentTo"}
xref: UMLS:C0034951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20508"}
is_a: MONDO:0005328 {source="DOID:9835", source="MESH:D012030"} ! eye disorder

[Term]
id: MONDO:0004893
name: hypertropia
def: "Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye." [NCIT:P378]
xref: DOID:9837 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.2 {source="DOID:9837"}
xref: ICD9:378.31 {source="MONDO:equivalentTo", source="DOID:9837", source="MONDO:i2s"}
xref: MEDGEN:43790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013285 {source="DOID:9837"}
xref: NCIT:C34716 {source="MONDO:equivalentTo", source="DOID:9837"}
xref: SCTID:194109005 {source="DOID:9837"}
xref: SCTID:40608009 {source="MONDO:equivalentTo", source="DOID:9837"}
xref: UMLS:C0020575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43790"}
is_a: MONDO:0003432 {source="DOID:9837", source="NCIT:C34716"} ! strabismus

[Term]
id: MONDO:0004894
name: cyclotropia
xref: DOID:9838 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.41 {source="DOID:9838"}
xref: ICD9:378.33 {source="DOID:9838", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:70486007 {source="DOID:9838", source="MONDO:equivalentTo"}
xref: UMLS:C0152209 {source="MONDO:equivalentTo", source="MEDGEN:508927", source="MONDO:MEDGEN"}
is_a: MONDO:0003432 {source="DOID:9838"} ! strabismus

[Term]
id: MONDO:0004895
name: accommodative esotropia
xref: DOID:9839 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.43 {source="DOID:9839"}
xref: ICD9:378.35 {source="DOID:9839"}
xref: MEDGEN:102331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:18369000 {source="DOID:9839"}
xref: SCTID:194112008 {source="DOID:9839"}
xref: SCTID:419494007 {source="MONDO:equivalentTo", source="DOID:9839"}
xref: UMLS:C0155336 {source="MEDGEN:102331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004896 {source="DOID:9839"} ! esotropia

[Term]
id: MONDO:0004896
name: esotropia
def: "A form of strabismus in which one or both eyes are deviated medially." [NCIT:P378]
synonym: "convergence in manifest squint" EXACT [DOID:9840]
synonym: "crossed eyes" EXACT [DOID:9840]
synonym: "internal strabismus" EXACT [DOID:9840, NCIT:C34596]
xref: DOID:9840 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.0 {source="DOID:9840"}
xref: ICD10CM:H50.00 {source="DOID:9840"}
xref: ICD9:378.0 {source="DOID:9840"}
xref: ICD9:378.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9840"}
xref: MEDGEN:4550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004948 {source="MONDO:equivalentTo", source="DOID:9840"}
xref: NCIT:C34596 {source="MONDO:equivalentTo", source="DOID:9840"}
xref: SCTID:155193001 {source="DOID:9840"}
xref: SCTID:16596007 {source="MONDO:equivalentTo", source="DOID:9840"}
xref: SCTID:194074002 {source="DOID:9840"}
xref: SCTID:194085000 {source="DOID:9840"}
xref: UMLS:C0014877 {source="MEDGEN:4550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003432 {source="DOID:9840", source="NCIT:C34596"} ! strabismus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8235/esotropia" xsd:anyURI {source="GARD:0008235"}

[Term]
id: MONDO:0004897
name: hypotropia
def: "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye." [NCIT:P378]
synonym: "downward ocular deviation" EXACT [NCIT:C42086]
synonym: "hypotropia" EXACT [NCIT:C42086]
synonym: "sunset sign" EXACT [NCIT:C42086]
xref: DOID:9841 {source="MONDO:equivalentTo"}
xref: ICD9:378.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9841"}
xref: MEDGEN:101826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42086 {source="MONDO:equivalentTo", source="DOID:9841"}
xref: SCTID:29491004 {source="MONDO:equivalentTo", source="DOID:9841"}
xref: UMLS:C0152208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101826"}
is_a: MONDO:0003432 {source="DOID:9841", source="NCIT:C42086"} ! strabismus

[Term]
id: MONDO:0004898
name: total circumpapillary dystrophy of choroid
synonym: "circumpapillary dystrophy of choroid, total" EXACT [DOID:9842, ICD9CM:363.52]
xref: DOID:9842 {source="MONDO:equivalentTo"}
xref: ICD9:363.52 {source="DOID:9842", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:59753003 {source="DOID:9842", source="MONDO:equivalentTo"}
xref: UMLS:C0154896 {source="MEDGEN:509705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004883 {source="DOID:9842"} ! hereditary choroidal atrophy

[Term]
id: MONDO:0004899
name: monofixation syndrome
synonym: "microstrabismus" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4102453, SCTID:28633004]
synonym: "microtropia" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4102453, SCTID:28633004]
xref: DOID:9843 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.42 {source="DOID:9843", source="MONDO:equivalentTo"}
xref: ICD9:378.34 {source="DOID:9843", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:573259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14785004 {source="DOID:9843", source="MONDO:equivalentTo"}
xref: SCTID:194111001 {source="DOID:9843"}
xref: UMLS:C0339611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573259"}
is_a: MONDO:0003432 {source="DOID:9843"} ! strabismus

[Term]
id: MONDO:0004900
name: peripheral vertigo
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:9847 {source="MONDO:equivalentTo"}
xref: ICD10CM:H81.3 {source="DOID:9847"}
xref: ICD10CM:H81.39 {source="DOID:9847"}
xref: ICD10CM:H81.399 {source="DOID:9847"}
xref: ICD9:386.1 {source="DOID:9847"}
xref: ICD9:386.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:386.19 {source="MONDO:relatedTo", source="DOID:9847", source="MONDO:i2s"}
xref: MEDGEN:102334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194353007 {source="DOID:9847"}
xref: SCTID:194359006 {source="DOID:9847"}
xref: SCTID:194692006 {source="DOID:9847"}
xref: SCTID:50438001 {source="MONDO:equivalentTo"}
xref: UMLS:C0155501 {source="MONDO:equivalentTo", source="MEDGEN:102334", source="MONDO:MEDGEN"}
is_a: MONDO:0002643 {source="DOID:9847"} ! vestibular disorder

[Term]
id: MONDO:0004901
name: lingual-facial-buccal dyskinesia
def: "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." [MESH:D009069]
synonym: "oro-facial dyskinesia" EXACT [DOID:9854]
xref: DOID:9854 {source="MONDO:equivalentTo"}
xref: ICD10CM:G24.4 {source="DOID:9854"}
xref: ICD9:333.82 {source="DOID:9854"}
xref: MEDGEN:57747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009069 {source="DOID:9854"}
xref: SCTID:155007009 {source="DOID:9854"}
xref: SCTID:192861006 {source="DOID:9854"}
xref: SCTID:267689009 {source="DOID:9854"}
xref: SCTID:49386006 {source="DOID:9854", source="MONDO:equivalentTo"}
xref: UMLS:C0152115 {source="MEDGEN:57747", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="DOID:9854"} ! movement disorder

[Term]
id: MONDO:0004902
name: interstitial keratitis
xref: DOID:9857 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.30 {source="DOID:9857"}
xref: ICD9:370.50 {source="DOID:9857"}
xref: MEDGEN:509779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1763009 {source="DOID:9857"}
xref: SCTID:193784002 {source="DOID:9857"}
xref: UMLS:C0155088 {source="MEDGEN:509779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="DOID:9857"} ! connective tissue disorder
is_a: MONDO:0004903 {source="DOID:9857"} ! deep keratitis

[Term]
id: MONDO:0004903
name: deep keratitis
xref: DOID:9858 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.3 {source="DOID:9858"}
xref: ICD9:370.5 {source="DOID:9858"}
xref: ICD9:370.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:755799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193783008 {source="DOID:9858"}
xref: SCTID:193788004 {source="DOID:9858"}
xref: SCTID:445741003 {source="MONDO:equivalentTo"}
xref: UMLS:C2960633 {source="MEDGEN:755799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003085 {source="DOID:9858"} ! keratitis

[Term]
id: MONDO:0004904
name: toxic maculopathy
synonym: "toxic maculopathy of retina" EXACT [DOID:9867, ICD9CM:362.55]
xref: DOID:9867 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.38 {source="DOID:9867"}
xref: ICD9:362.55 {source="DOID:9867", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193389005 {source="DOID:9867"}
xref: SCTID:44115007 {source="DOID:9867", source="MONDO:equivalentTo"}
xref: UMLS:C0271086 {source="MEDGEN:543164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002175 {source="DOID:9867"} ! degeneration of macula and posterior pole

[Term]
id: MONDO:0004905
name: intestinal disaccharidase deficiency
alt_id: MONDO:0006062
def: "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." [EFO:1000060]
subset: otar {source="MONDO:OTAR"}
synonym: "intestinal disaccharidase deficiency and disaccharide malabsorption" EXACT [NCIT:C34731]
synonym: "intestinal disaccharide deficiency and disaccharide malabsorption" RELATED []
xref: DOID:9868 {source="MONDO:equivalentTo"}
xref: EFO:1000060 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="DOID:9868", source="MONDO:i2s"}
xref: MEDGEN:5861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34731 {source="DOID:9868", source="MONDO:equivalentTo"}
xref: SCTID:22169002 {source="MONDO:equivalentTo"}
xref: UMLS:C0021830 {source="MEDGEN:5861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="DOID:9868/inferred", source="EFO:1000060", source="EFO:1000060/inferred"} ! metabolic disease
is_a: MONDO:0020598 {source="NCIT:C34731"} ! malabsorption syndrome
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0005984 ! disaccharide metabolic process
intersection_of: disease_has_location UBERON:0000160 ! intestine
relationship: disease_has_location UBERON:0001007 {source="EFO:0000784"} ! digestive system
relationship: excluded_subClassOf MONDO:0019214 {source="DOID:9868", source="https://orcid.org/0000-0001-5208-3432"} ! inborn carbohydrate metabolic disorder

[Term]
id: MONDO:0004906
name: obsolete hereditary fructose intolerance syndrome
is_obsolete: true
replaced_by: MONDO:0009249

[Term]
id: MONDO:0004907
name: alopecia
def: "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." [NCIT:C50575]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79364"}
subset: otar {source="MONDO:OTAR"}
synonym: "alopecia" EXACT [MONDO:0019279]
synonym: "alopecia areata" NARROW [NCIT:C50575]
synonym: "hair loss" EXACT [NCIT:C50575]
synonym: "loss Of hair" EXACT [NCIT:C50575]
xref: DOID:987 {source="MONDO:equivalentTo"}
xref: ICD10CM:L65.9 {source="DOID:987"}
xref: icd11.foundation:1313926062 {source="MONDO:equivalentTo", source="Orphanet:79364", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:704.0 {source="DOID:987"}
xref: ICD9:704.00 {source="DOID:987", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000505 {source="DOID:987", source="MONDO:equivalentTo"}
xref: NCIT:C50575 {source="DOID:987", source="MONDO:equivalentTo"}
xref: Orphanet:79364 {source="MONDO:equivalentTo"}
xref: SCTID:156408004 {source="DOID:987"}
xref: SCTID:201129005 {source="DOID:987"}
xref: SCTID:201130000 {source="DOID:987"}
xref: SCTID:201157003 {source="DOID:987"}
xref: SCTID:267810004 {source="DOID:987"}
xref: SCTID:270504008 {source="DOID:987"}
xref: SCTID:278040002 {source="DOID:987"}
xref: SCTID:56317004 {source="DOID:987", source="MONDO:equivalentTo"}
xref: UMLS:C0002170 {source="MEDGEN:7982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019278 {source="Orphanet:79364"} ! hair anomaly
relationship: excluded_subClassOf MONDO:0003037 {source="DOID:987", source="MESH:D000505", source="https://orcid.org/0000-0001-5208-3432"} ! hypotrichosis

[Term]
id: MONDO:0004908
name: obsolete galactosemia
is_obsolete: true
replaced_by: MONDO:0018116

[Term]
id: MONDO:0004909
name: urethral gland abscess
xref: DOID:9877 {source="MONDO:equivalentTo"}
xref: ICD10CM:N34.0 {source="DOID:9877"}
xref: ICD9:597.0 {source="DOID:9877"}
xref: MEDGEN:754230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197899005 {source="DOID:9877"}
xref: SCTID:197900000 {source="DOID:9877"}
xref: SCTID:197901001 {source="DOID:9877"}
xref: SCTID:197902008 {source="DOID:9877"}
xref: SCTID:444820005 {source="MONDO:equivalentTo"}
xref: SCTID:67277002 {source="DOID:9877"}
xref: UMLS:C2919928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:754230"}
is_a: MONDO:0004184 {source="DOID:9877"} ! urethral disorder

[Term]
id: MONDO:0004910
name: mitral valve prolapse
def: "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." [NCIT:P378]
synonym: "barlow's syndrome" EXACT [DOID:988, MTH:097]
synonym: "floppy mitral valve" EXACT [DOID:988]
synonym: "mitral leaflet syndrome" RELATED [DOID:988]
synonym: "mitral valve prolapse" EXACT [MONDO:ambiguous]
synonym: "mitral valve prolapse (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "mitral valve prolapse syndrome" EXACT [NCIT:C50655]
synonym: "mitral valve prolapse, myxomatous" RELATED [OMIMPS:157700]
synonym: "myxomatous mitral valve prolapse" RELATED [DOID:988]
synonym: "prolapse, mitral valve" EXACT [NCIT:C50655]
synonym: "systolic click-murmur syndrome" RELATED [DOID:988]
synonym: "valve, prolapse Of mitral" EXACT [NCIT:C50655]
xref: DOID:988 {source="MONDO:equivalentTo"}
xref: HP:0001634 {source="MONDO:otherHierarchy"}
xref: MEDGEN:7671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008945 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:988", source="MONDO:equivalentTo"}
xref: NCIT:C50655 {source="DOID:988", source="MONDO:equivalentTo"}
xref: SCTID:155386005 {source="DOID:988"}
xref: SCTID:194977007 {source="DOID:988"}
xref: SCTID:194980008 {source="DOID:988"}
xref: SCTID:409712001 {source="DOID:988", source="MONDO:equivalentTo"}
xref: SCTID:42069006 {source="DOID:988"}
xref: SCTID:45023003 {source="DOID:988"}
xref: SCTID:8074002 {source="MONDO:relatedTo", source="DOID:988"}
xref: UMLS:C0026267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7671"}
is_a: MONDO:0003767 {source="DOID:988", source="NCIT:C50655"} ! mitral valve disorder
property_value: IAO:0000589 "mitral valve prolapse (disease)" xsd:string

[Term]
id: MONDO:0004911
name: cardiovascular syphilis
def: "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries." [DOID:9880, http://emedicine.medscape.com/article/229461-overview#a0104, http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]
xref: DOID:9880 {source="MONDO:equivalentTo"}
xref: ICD9:093.8 {source="DOID:9880"}
xref: ICD9:093.89 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:9880"}
xref: ICD9:093.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111823001 {source="DOID:9880"}
xref: SCTID:186880008 {source="DOID:9880"}
xref: SCTID:186882000 {source="DOID:9880"}
xref: SCTID:83883001 {source="MONDO:equivalentTo"}
xref: UMLS:C0039130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21055"}
is_a: MONDO:0004497 {source="DOID:9880"} ! tertiary syphilis
relationship: disease_has_feature HP:0002617 ! Vascular dilatation

[Term]
id: MONDO:0004912
name: obsolete muscular dystrophy
is_obsolete: true
replaced_by: MONDO:0020121

[Term]
id: MONDO:0004913
name: alternating esotropia
xref: DOID:9888 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.05 {source="DOID:9888", source="MONDO:equivalentTo"}
xref: ICD9:378.05 {source="DOID:9888", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194080005 {source="DOID:9888"}
xref: SCTID:39837002 {source="DOID:9888", source="MONDO:equivalentTo"}
xref: UMLS:C0152205 {source="MEDGEN:57515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004896 {source="DOID:9888"} ! esotropia

[Term]
id: MONDO:0004914
name: celiac artery stenosis from compression by median arcuate ligament of diaphragm
def: "A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss." [PMID:34729265]
synonym: "celiac access syndrome" RELATED [GARD:0012308]
synonym: "celiac artery compression syndrome" EXACT [DOID:9892, ICD9CM:447.4]
synonym: "celiac artery stenosis from compression by median arcuate ligament of diaphragm" EXACT [OMIM:116870]
synonym: "coeliac access syndrome" RELATED OMO:0003005 []
synonym: "coeliac artery compression syndrome" EXACT OMO:0003005 []
synonym: "Harjola-Marable syndrome" EXACT [DOID:9892]
synonym: "Marable's syndrome" EXACT [DOID:9892]
synonym: "median arcuate ligament syndrome" EXACT [DOID:9892]
synonym: "median arcuate ligament syndromic disease" EXACT [MONDO:patterns/location]
synonym: "syndromic disease of median arcuate ligament" EXACT [MONDO:design_pattern]
xref: DOID:9892 {source="MONDO:equivalentTo"}
xref: ICD10CM:I77.4 {source="DOID:9892"}
xref: ICD9:447.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9892"}
xref: MEDGEN:349361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566151 {source="MONDO:equivalentObsolete"}
xref: OMIM:116870 {source="MONDO:equivalentTo"}
xref: SCTID:9250002 {source="MONDO:equivalentTo", source="DOID:9892"}
xref: UMLS:C1861783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349361"}
is_a: MONDO:0000473 {source="DOID:9892"} ! arterial disorder
is_a: MONDO:0002254 {source="DOID:9892", source="MONDO:Redundant"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:116870"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3691" xsd:anyURI

[Term]
id: MONDO:0004915
name: obsolete MONDO:0004915
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005076

[Term]
id: MONDO:0004916
name: obsolete MONDO:0004916
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006906

[Term]
id: MONDO:0004917
name: internal hordeolum
def: "A hordeolum that results from infection of a meibomian gland." [https://www.merckmanuals.com/professional/eye-disorders/eyelid-and-lacrimal-disorders/chalazion-and-hordeolum-stye]
synonym: "hordeolum internum" RELATED []
synonym: "hordeolum of tarsal gland" EXACT [MONDO:design_pattern]
synonym: "infected chalazion" RELATED []
synonym: "infected cyst of meibomian gland" RELATED []
synonym: "infected meibomian cyst" RELATED []
synonym: "infection of meibomian gland" RELATED []
synonym: "internal hordeolum" EXACT []
synonym: "meibomian adenitis" RELATED []
synonym: "tarsal gland hordeolum" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:9908 {source="MONDO:equivalentTo"}
xref: ICD10CM:H00.02 {source="DOID:9908"}
xref: ICD9:373.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9908"}
xref: MEDGEN:43227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:15750009 {source="DOID:9908"}
xref: SCTID:397514009 {source="DOID:9908"}
xref: SCTID:414521009 {source="MONDO:equivalentTo", source="DOID:9908"}
xref: SCTID:95752007 {source="DOID:9908"}
xref: UMLS:C0085690 {source="MEDGEN:43227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005800 {source="DOID:9908", source="MONDO:Redundant"} ! hordeolum
is_a: MONDO:0024481 ! skin appendage disorder
intersection_of: MONDO:0005800 ! hordeolum
intersection_of: disease_has_location UBERON:0001818 ! tarsal gland

[Term]
id: MONDO:0004918
name: central corneal ulcer
xref: DOID:9910 {source="MONDO:equivalentTo"}
xref: ICD10CM:H16.01 {source="DOID:9910"}
xref: ICD9:370.03 {source="DOID:9910", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193761009 {source="DOID:9910"}
xref: SCTID:7426009 {source="DOID:9910", source="MONDO:equivalentTo"}
xref: UMLS:C0155069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509767"}
is_a: MONDO:0004577 {source="DOID:9910"} ! corneal ulcer

[Term]
id: MONDO:0004919
name: infected hydrocele
xref: DOID:9911 {source="MONDO:equivalentTo"}
xref: ICD10CM:N43.1 {source="DOID:9911", source="MONDO:equivalentTo"}
xref: ICD9:603.1 {source="DOID:9911", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:11666007 {source="DOID:9911", source="MONDO:equivalentTo"}
xref: UMLS:C0156300 {source="MEDGEN:510235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004920 {source="DOID:9911"} ! hydrocele

[Term]
id: MONDO:0004920
name: hydrocele
xref: DOID:9912 {source="MONDO:equivalentTo"}
xref: ICD9:603.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:603.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:318568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:55434001 {source="MONDO:equivalentTo"}
xref: UMLS:C1720771 {source="MEDGEN:318568", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="DOID:9912"} ! male reproductive system disorder

[Term]
id: MONDO:0004921
name: obsolete Omsk hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0017882

[Term]
id: MONDO:0004922
name: developmental coordination disorder
def: "A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition." [NCIT:P378]
synonym: "clumsy child syndrome" EXACT [NCIT:C92561]
synonym: "development coordination disorder" EXACT [NCIT:C92561]
synonym: "developmental dyspraxia" EXACT [NCIT:C92561]
xref: DOID:9923 {source="MONDO:equivalentTo"}
xref: ICD10CM:F82 {source="DOID:9923"}
xref: ICD9:315.4 {source="DOID:9923", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:41511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019957 {source="DOID:9923", source="MONDO:equivalentTo"}
xref: NCIT:C92561 {source="DOID:9923", source="MONDO:equivalentTo"}
xref: SCTID:192578006 {source="DOID:9923"}
xref: SCTID:27544004 {source="DOID:9923", source="MONDO:equivalentTo"}
xref: UMLS:C0011757 {source="MEDGEN:41511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000592 {source="DOID:9923"} ! specific developmental disorder
relationship: disease_has_feature HP:0011443 ! Abnormality of coordination

[Term]
id: MONDO:0004923
name: chronic inflammation of lacrimal passage
xref: DOID:9935 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.4 {source="DOID:9935"}
xref: ICD9:375.4 {source="DOID:9935"}
xref: MEDGEN:509865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193990009 {source="DOID:9935"}
xref: SCTID:193991008 {source="DOID:9935"}
xref: SCTID:267653001 {source="DOID:9935", source="MONDO:equivalentTo"}
xref: UMLS:C0155239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509865"}
is_a: MONDO:0001854 {source="DOID:9935", source="MONDO:Redundant"} ! lacrimal apparatus disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001850 ! lacrimal drainage system
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: disease_has_inflammation_site UBERON:0001850 ! lacrimal drainage system

[Term]
id: MONDO:0004924
name: chronic canaliculitis
def: "Chronic form of actinomycosis." [MONDO:patterns/chronic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "actinomycosis, chronic" EXACT [MONDO:patterns/chronic]
synonym: "chronic actinomycosis" EXACT [MONDO:design_pattern]
xref: DOID:9936 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.42 {source="DOID:9936"}
xref: ICD9:375.41 {source="MONDO:equivalentTo", source="DOID:9936", source="MONDO:i2s"}
xref: MEDGEN:509866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:26479009 {source="MONDO:equivalentTo", source="DOID:9936"}
xref: UMLS:C0155240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509866"}
is_a: MONDO:0004923 {source="DOID:9936"} ! chronic inflammation of lacrimal passage
intersection_of: MONDO:0005631 ! actinomycosis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0004925
name: chronic dacryocystitis
def: "Chronic form of dacryocystitis." [MONDO:patterns/chronic]
synonym: "dacryocystitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:9937 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.41 {source="DOID:9937"}
xref: ICD9:375.42 {source="DOID:9937", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193990009 {source="DOID:9937"}
xref: SCTID:84627005 {source="DOID:9937", source="MONDO:equivalentTo"}
xref: UMLS:C0149506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508388"}
is_a: MONDO:0004923 {source="DOID:9937", source="MONDO:Redundant"} ! chronic inflammation of lacrimal passage
is_a: MONDO:0004926 {source="DOID:9937", source="MONDO:Redundant"} ! dacryocystitis
intersection_of: MONDO:0004926 ! dacryocystitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0004926
name: dacryocystitis
def: "Inflammation of the lacrimal sac." [NCIT:P378]
synonym: "Dacryoadenitides" EXACT [MESH:D003607]
synonym: "dacryoadenitis" RELATED [MESH:D003607]
synonym: "Dacryocystitides" EXACT [MESH:D003607]
synonym: "inflammation of lacrimal sac" EXACT []
synonym: "lacrimal sac inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:9938 {source="MONDO:equivalentTo"}
xref: ICD10CM:H04.30 {source="DOID:9938"}
xref: ICD9:375.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9938"}
xref: MEDGEN:3686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003607 {source="MONDO:equivalentTo", source="DOID:9938"}
xref: NCIT:C34521 {source="MONDO:equivalentTo", source="DOID:9938"}
xref: SCTID:155183008 {source="DOID:9938"}
xref: SCTID:193987003 {source="DOID:9938"}
xref: SCTID:193989000 {source="DOID:9938"}
xref: SCTID:267738004 {source="DOID:9938"}
xref: SCTID:85777005 {source="MONDO:equivalentTo", source="DOID:9938"}
xref: UMLS:C0010930 {source="MONDO:equivalentTo", source="MEDGEN:3686", source="MONDO:MEDGEN"}
is_a: MONDO:0001854 {source="DOID:9938/inferred", source="MONDO:Redundant", source="NCIT:C34521"} ! lacrimal apparatus disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001351 ! lacrimal sac
relationship: excluded_subClassOf MONDO:0004055 {source="DOID:9938", source="https://orcid.org/0000-0001-5208-3432"} ! acute inflammation of lacrimal passage

[Term]
id: MONDO:0004927
name: dacryocystocele
def: "A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction." [NCIT:P378]
synonym: "lacrimal mucocele" EXACT [DOID:9939, ICD9CM:375.43]
xref: DOID:9939 {source="MONDO:equivalentTo"}
xref: ICD9:375.43 {source="DOID:9939"}
xref: MEDGEN:472901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98968 {source="MONDO:otherHierarchy", source="DOID:9939"}
xref: SCTID:42758002 {source="DOID:9939"}
xref: UMLS:C0155241 {source="MEDGEN:472901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004923 {source="DOID:9939"} ! chronic inflammation of lacrimal passage

[Term]
id: MONDO:0004928
name: lymph node disorder
def: "Any disorder of the lymph nodes." [NCIT:C35346]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of lymph node" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lymph node" EXACT []
synonym: "disorder of lymph node" EXACT [MONDO:patterns/location_top]
synonym: "lymph node disease" EXACT [MONDO:patterns/location]
synonym: "lymph node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymph node disorder" EXACT [NCIT:C35346]
xref: DOID:9942 {source="MONDO:equivalentTo"}
xref: MEDGEN:78802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35346 {source="DOID:9942", source="MONDO:equivalentTo"}
xref: SCTID:76616003 {source="DOID:9942", source="MONDO:equivalentTo"}
xref: UMLS:C0272394 {source="MEDGEN:78802", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005833 {source="DOID:9942"} ! lymphatic system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000029 ! lymph node

[Term]
id: MONDO:0004929
name: constant exophthalmos
xref: DOID:9945 {source="MONDO:equivalentTo"}
xref: ICD10CM:H05.24 {source="DOID:9945"}
xref: ICD9:376.31 {source="DOID:9945", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194015008 {source="DOID:9945"}
xref: SCTID:89907009 {source="DOID:9945", source="MONDO:equivalentTo"}
xref: UMLS:C0155267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509884"}
is_a: MONDO:0004751 {source="DOID:9945"} ! disease of orbital part of eye adnexa

[Term]
id: MONDO:0004930
name: steroid-induced glaucoma
synonym: "corticosteroid-induced glaucoma" EXACT [DOID:9946, ICD9CM:365.3]
xref: DOID:9946 {source="MONDO:equivalentTo"}
xref: ICD9:365.3 {source="DOID:9946"}
xref: ICD9:365.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:573238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1654001 {source="DOID:9946", source="MONDO:equivalentTo"}
xref: SCTID:193550003 {source="DOID:9946"}
xref: UMLS:C0339578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573238"}
is_a: MONDO:0005041 {source="DOID:9946"} ! glaucoma

[Term]
id: MONDO:0004931
name: residual stage corticosteroid-induced glaucoma
xref: DOID:9948 {source="MONDO:equivalentTo"}
xref: ICD9:365.32 {source="DOID:9948", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:573240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193549003 {source="DOID:9948", source="MONDO:equivalentTo"}
xref: SCTID:52519003 {source="DOID:9948"}
xref: UMLS:C0339580 {source="MEDGEN:573240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004930 {source="DOID:9948"} ! steroid-induced glaucoma

[Term]
id: MONDO:0004932
name: null-cell leukemia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "null cell acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "null cell acute lymphoblastic leukemia" EXACT [DOID:9954]
xref: DOID:9954 {source="MONDO:equivalentTo"}
xref: MEDGEN:507917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:277574007 {source="DOID:9954", source="MONDO:equivalentTo"}
xref: UMLS:C0023483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507917"}
is_a: MONDO:0004967 {source="DOID:9954"} ! acute lymphoblastic leukemia

[Term]
id: MONDO:0004933
name: hypoplastic left heart syndrome
def: "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." [Orphanet:2248]
comment: prototype_pattern
subset: gard_rare {source="GARD:6739", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1277"}
subset: ordo_disorder {source="Orphanet:2248"}
subset: ordo_morphological_anomaly {source="Orphanet:2248"}
subset: orphanet_rare {source="Orphanet:2248"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLHS" EXACT ABBREVIATION [Orphanet:2248]
xref: DOID:9955 {source="MONDO:equivalentTo"}
xref: GARD:6739 {source="MONDO:GARD"}
xref: ICD10CM:Q23.4 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"}
xref: icd11.foundation:1811800027 {source="MONDO:equivalentTo", source="Orphanet:2248"}
xref: ICD9:746.7 {source="DOID:9955", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10021076 {source="Orphanet:2248/e"}
xref: MEDGEN:57746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018636 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"}
xref: NANDO:1200705 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100071 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200249 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98894 {source="DOID:9955", source="MONDO:equivalentTo"}
xref: NORD:1277 {source="MONDO:NORD"}
xref: OMIMPS:241550 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2248 {source="MONDO:equivalentTo", source="OMIM:241550"}
xref: SCTID:62067003 {source="DOID:9955", source="MONDO:equivalentTo"}
xref: UMLS:C0152101 {source="MEDGEN:57746", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C98894"} ! syndromic disease
is_a: MONDO:0005453 {source="DOID:9955", source="MESH:D018636"} ! congenital heart disease
is_a: MONDO:0005584 ! congenital left-sided heart lesions
is_a: MONDO:0019820 {source="Orphanet:2248"} ! univentricular cardiopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:241550"} ! inherited

[Term]
id: MONDO:0004934
name: periostitis
def: "Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)" [MESH:D010522]
synonym: "inflammation of periosteum" EXACT []
synonym: "periosteum" EXACT [NCIT:C13184]
synonym: "periosteum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "periostitis" EXACT [MONDO:ambiguous]
synonym: "periostitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:9957 {source="MONDO:equivalentTo"}
xref: HP:0040165 {source="MONDO:otherHierarchy"}
xref: MEDGEN:45816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010522 {source="DOID:9957", source="MONDO:equivalentTo"}
xref: NCIT:C13184 {source="MONDO:equivalentTo"}
xref: SCTID:41910004 {source="DOID:9957", source="MONDO:equivalentTo"}
xref: UMLS:C0031111 {source="MEDGEN:45816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="DOID:9957", source="MONDO:Redundant"} ! connective tissue disorder
is_a: MONDO:0005381 {source="MESH:D010522/inferred", source="MONDO:Redundant"} ! bone disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002515 ! periosteum
property_value: IAO:0000589 "periostitis (disease)" xsd:string

[Term]
id: MONDO:0004935
name: obsolete acquired carotenemia
comment: This was merged into parent. An explicit acquired subclass was created for consistency with DO.
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021162

[Term]
id: MONDO:0004936
name: uterine inversion
def: "A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage." [MESH:D019687]
xref: DOID:997 {source="MONDO:equivalentTo"}
xref: ICD10CM:N85.5 {source="DOID:997"}
xref: ICD9:665.2 {source="DOID:997"}
xref: MEDGEN:57916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019687 {source="DOID:997", source="MONDO:equivalentTo"}
xref: SCTID:156232008 {source="DOID:997"}
xref: SCTID:156233003 {source="DOID:997"}
xref: SCTID:199968003 {source="DOID:997"}
xref: SCTID:199971006 {source="DOID:997"}
xref: SCTID:267347009 {source="DOID:997"}
xref: SCTID:27215002 {source="DOID:997", source="MONDO:equivalentTo"}
xref: UMLS:C0162482 {source="MEDGEN:57916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:997", source="MESH:D019687"} ! uterine disorder

[Term]
id: MONDO:0004937
name: hypervitaminosis D
synonym: "hypervitaminosis type D" EXACT [DOID:9971, MONDORULE:1]
xref: DOID:9971 {source="MONDO:equivalentTo"}
xref: ICD10CM:E67.3 {source="MONDO:equivalentTo", source="DOID:9971"}
xref: ICD9:278.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9971"}
xref: MEDGEN:730644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190969000 {source="DOID:9971"}
xref: SCTID:27712000 {source="MONDO:equivalentTo", source="DOID:9971"}
xref: UMLS:C1442839 {source="MEDGEN:730644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003916 {source="DOID:9971"} ! overnutrition

[Term]
id: MONDO:0004938
name: substance dependence
def: "The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dependence" EXACT [NCIT:C35458]
xref: DOID:9973 {source="MONDO:equivalentTo"}
xref: ICD9:304.60 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:20989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35458 {source="MONDO:equivalentTo", source="DOID:9973"}
xref: SCTID:103326000 {source="DOID:9973"}
xref: SCTID:2403008 {source="MONDO:equivalentTo"}
xref: SCTID:255338002 {source="DOID:9973"}
xref: UMLS:C0038580 {source="MEDGEN:20989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002494 {source="DOID:9973"} ! substance-related disorder

[Term]
id: MONDO:0004939
name: hallucinogen dependence
def: "A drug dependence for a hallucinogenic substance." [NCIT:P378]
xref: DOID:9977 {source="MONDO:equivalentTo"}
xref: ICD10CM:F16.2 {source="DOID:9977"}
xref: ICD9:304.5 {source="DOID:9977"}
xref: ICD9:304.50 {source="DOID:9977", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:5415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34657 {source="DOID:9977", source="MONDO:equivalentTo"}
xref: SCTID:191847003 {source="DOID:9977"}
xref: SCTID:191848008 {source="DOID:9977"}
xref: SCTID:191852008 {source="DOID:9977"}
xref: SCTID:268643000 {source="DOID:9977"}
xref: SCTID:38247002 {source="DOID:9977", source="MONDO:equivalentTo"}
xref: UMLS:C0018528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5415"}
is_a: MONDO:0005303 {source="DOID:9977", source="NCIT:C34657"} ! drug dependence

[Term]
id: MONDO:0004940
name: acute female pelvic peritonitis
xref: DOID:9978 {source="MONDO:equivalentTo"}
xref: ICD10CM:N73.3 {source="DOID:9978", source="MONDO:equivalentTo"}
xref: ICD9:614.5 {source="DOID:9978", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:541683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:198167003 {source="DOID:9978"}
xref: SCTID:198168008 {source="DOID:9978"}
xref: SCTID:198170004 {source="DOID:9978"}
xref: SCTID:266583006 {source="DOID:9978"}
xref: SCTID:85051008 {source="DOID:9978", source="MONDO:equivalentTo"}
xref: UMLS:C0269032 {source="MEDGEN:541683", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000922 {source="DOID:9978"} ! pelvic inflammatory disease
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004941
name: eosinophilia-myalgia syndrome
def: "A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)" [MESH:D016603]
subset: gard_rare {source="GARD:6345", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1094", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EMS" RELATED ABBREVIATION [GARD:0006345]
synonym: "eosinophilia myalgia syndrome" EXACT [DOID:998, ICD9CM:710.5]
synonym: "L-tryptophan induced EMS" RELATED [GARD:0006345]
synonym: "severe muscle pain and abnormally high eosinophils" RELATED [GARD:0006345]
synonym: "syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart" RELATED [GARD:0006345]
xref: DOID:998 {source="MONDO:equivalentTo"}
xref: EFO:1001316 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6345 {source="MONDO:GARD"}
xref: ICD9:710.5 {source="DOID:998", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:38987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016603 {source="DOID:998", source="MONDO:equivalentTo"}
xref: NORD:1094 {source="MONDO:NORD"}
xref: SCTID:95416007 {source="DOID:998", source="MONDO:equivalentTo"}
xref: UMLS:C0085179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38987"}
is_a: MONDO:0015691 {source="DOID:998"} ! hypereosinophilic syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome" xsd:anyURI {source="GARD:0006345"}

[Term]
id: MONDO:0004942
name: orbit lymphoma
def: "A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma." [NCIT:P378]
subset: gard_rare {source="GARD:9719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoma of orbit" EXACT [NCIT:C6244]
synonym: "lymphoma of the orbit" EXACT [DOID:9986, GARD:0009719, NCIT:C6244]
synonym: "orbital lymphoma" RELATED [GARD:0009719]
synonym: "primary orbit lymphoma" EXACT [NCIT:C6244]
synonym: "primary orbital lymphoma" RELATED [GARD:0009719]
xref: DOID:9986 {source="MONDO:equivalentTo"}
xref: GARD:9719 {source="MONDO:GARD"}
xref: MEDGEN:75744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537131 {source="DOID:9986", source="MONDO:equivalentTo"}
xref: NCIT:C6244 {source="DOID:9986", source="MONDO:equivalentTo"}
xref: SCTID:13048006 {source="DOID:9986", source="MONDO:equivalentTo"}
xref: UMLS:C0271333 {source="MEDGEN:75744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002889 {source="DOID:9986", source="NCIT:C6244"} ! orbital cancer

[Term]
id: MONDO:0004943
name: orbit sarcoma
def: "A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "orbit of skull sarcoma" EXACT [MONDO:patterns/location]
synonym: "orbital sarcoma" EXACT [DOID:9987, NCIT:C6095]
synonym: "sarcoma of orbit" EXACT [NCIT:C6095]
synonym: "sarcoma of orbit of skull" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of the orbit" EXACT [NCIT:C6095]
xref: DOID:9987 {source="MONDO:equivalentTo"}
xref: MEDGEN:277449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6095 {source="DOID:9987", source="MONDO:equivalentTo"}
xref: SCTID:699354006 {source="DOID:9987", source="MONDO:equivalentTo"}
xref: UMLS:C1335131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277449"}
is_a: MONDO:0002889 {source="DOID:9987", source="MONDO:Redundant", source="NCIT:C6095"} ! orbital cancer
is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C6095/inferred"} ! sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001697 ! orbit of skull

[Term]
id: MONDO:0004944
name: neurosyphilis
def: "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia." [NCIT:C84935]
subset: gard_rare {source="GARD:8729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "late neurosyphilis" EXACT [DOID:9988]
synonym: "neurosyphilis" EXACT [NCIT:C84935]
synonym: "tertiary neurosyphilis" EXACT [DOID:9988]
xref: DOID:9988 {source="MONDO:equivalentTo"}
xref: GARD:8729 {source="MONDO:GARD"}
xref: ICD10CM:A52.3 {source="DOID:9988", source="MONDO:equivalentTo"}
xref: ICD9:094 {source="DOID:9988"}
xref: ICD9:094.89
xref: ICD9:094.9 {source="DOID:9988"}
xref: MEDGEN:14360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009494 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:9988", source="MONDO:equivalentTo"}
xref: NCIT:C84935 {source="DOID:9988", source="MONDO:equivalentTo"}
xref: SCTID:154384001 {source="DOID:9988"}
xref: SCTID:186884004 {source="DOID:9988"}
xref: SCTID:186895005 {source="DOID:9988"}
xref: SCTID:187356008 {source="DOID:9988"}
xref: SCTID:26039008 {source="DOID:9988", source="MONDO:equivalentTo"}
xref: SCTID:266210001 {source="DOID:9988"}
xref: UMLS:C0027927 {source="MEDGEN:14360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004497 {source="DOID:9988"} ! tertiary syphilis
is_a: MONDO:0005976 {source="DOID:9988/inferred", source="NCIT:C84935"} ! syphilis

[Term]
id: MONDO:0004945
name: obsolete hypereosinophilic syndrome
is_obsolete: true
replaced_by: MONDO:0015691

[Term]
id: MONDO:0004946
name: hypoglycemia
def: "Abnormally low level of glucose in the blood." [NCIT:P378]
synonym: "blood glucose, Low" EXACT [NCIT:C3126]
synonym: "glucose, Low blood" EXACT [NCIT:C3126]
synonym: "hypoglycaemia" EXACT [DOID:9993]
synonym: "low blood glucose" EXACT [NCIT:C3126]
xref: DOID:9993 {source="MONDO:equivalentTo"}
xref: ICD10CM:E16.2 {source="DOID:9993"}
xref: ICD9:251.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:251.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9993"}
xref: MEDGEN:6979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007003 {source="MONDO:equivalentTo", source="DOID:9993"}
xref: NCIT:C3126 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:9993"}
xref: SCTID:154691006 {source="DOID:9993"}
xref: SCTID:154693009 {source="DOID:9993"}
xref: SCTID:190433001 {source="DOID:9993"}
xref: SCTID:190436009 {source="DOID:9993"}
xref: SCTID:237630007 {source="DOID:9993"}
xref: SCTID:271327008 {source="DOID:9993"}
xref: SCTID:302866003 {source="MONDO:equivalentTo", source="DOID:9993"}
xref: SCTID:66694000 {source="DOID:9993"}
xref: UMLS:C0020615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6979"}
is_a: MONDO:0002908 {source="DOID:9993", source="MESH:D007003"} ! glucose metabolism disease
relationship: excluded_subClassOf MONDO:0001933 {source="DOID:9993", source="https://orcid.org/0000-0001-5208-3432"} ! endocrine pancreas disorder

[Term]
id: MONDO:0004947
name: B-cell acute lymphoblastic leukemia
def: "A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)" [NCIT:C8936]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8936]
synonym: "precursor B lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8936]
synonym: "precursor B lymphoblastic lymphoma/leukemia" RELATED [DOID:7061]
synonym: "precursor B-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8936]
xref: DOID:0080630 {source="MONDO:equivalentTo"}
xref: DOID:7061 {source="MONDO:equivalentObsolete", source="EFO:0000094"}
xref: EFO:0000094 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:226949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8936 {source="DOID:7061", source="MONDO:equivalentTo", source="EFO:0000094"}
xref: SCTID:277571004 {source="MONDO:equivalentTo", source="EFO:0000094"}
xref: UMLS:C1292769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226949"}
is_a: MONDO:0003538 {source="DOID:7061", source="EFO:0000094/inferred", source="MONDO:Redundant", source="NCIT:C8936"} ! precursor lymphoblastic lymphoma/leukemia
is_a: MONDO:0004095 {source="DOID:7061", source="NCIT:C8936"} ! B-cell neoplasm
is_a: MONDO:0004967 {source="EFO:0000094"} ! acute lymphoblastic leukemia
is_a: MONDO:0015759 {source="MONDO:Redundant"} ! B-cell non-Hodgkin lymphoma
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004948
name: B-cell chronic lymphocytic leukemia
def: "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." [Orphanet:67038]
subset: gard_rare {source="GARD:6104", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:971"}
subset: ordo_disorder {source="Orphanet:67038"}
subset: orphanet_rare {source="Orphanet:67038"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B cell chronic lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B cell chronic lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "B cell CLL" EXACT [NCIT:C3163]
synonym: "B cell lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B cell lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "B-cell chronic lymphocytic leukemia" EXACT [DOID:1040, NCIT:C3163]
synonym: "B-cell chronic lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "B-cell chronic lymphogenous leukemia" EXACT [NCIT:C3163]
synonym: "B-cell chronic lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "B-cell chronic lymphoid leukemia" EXACT [DOID:1040, NCIT:C3163, Orphanet:67038]
synonym: "B-cell CLL" EXACT [NCIT:C3163]
synonym: "B-cell lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B-cell lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "B-CLL" EXACT [Orphanet:67038]
synonym: "BCLL" EXACT ABBREVIATION [NCIT:C3163]
synonym: "chronic B-cell lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "chronic B-cell lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "chronic lymphatic leukaemia" EXACT OMO:0003005 []
synonym: "chronic lymphatic leukemia" EXACT [DOID:1040, NCIT:C3163]
synonym: "chronic lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "chronic lymphocytic leukaemia (CLL)" EXACT OMO:0003005 []
synonym: "Chronic Lymphocytic Leukemia" EXACT [NORD:971]
synonym: "chronic lymphocytic leukemia" EXACT [NCIT:C3163]
synonym: "chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163]
synonym: "chronic lymphocytic leukemia, NOS" RELATED EXCLUDE [NCIT:C3163]
synonym: "chronic lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "chronic lymphogenous leukemia" EXACT [NCIT:C3163]
synonym: "CLL" EXACT ABBREVIATION [DOID:1040, MONDO:Lexical, NCIT:C3163, OMIM:151400]
synonym: "hematopoeitic - chronic lymphocytic leukaemia (CLL)" EXACT OMO:0003005 []
synonym: "hematopoeitic - chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163]
synonym: "leukemia, chronic lymphatic" RELATED [OMIM:151400]
synonym: "leukemia, chronic LYMPHOCYTIC" RELATED [MONDO:Lexical, OMIM:151400]
synonym: "leukemia, lymphocytic, chronic" RELATED [GARD:0006104]
synonym: "lymphoplasmacytic leukaemia" EXACT OMO:0003005 []
synonym: "lymphoplasmacytic leukemia" EXACT [DOID:1040]
synonym: "small lymphocytic lymphoma" RELATED [Orphanet:67038]
xref: DOID:1040 {source="MONDO:equivalentTo", source="EFO:0000095"}
xref: EFO:0000095 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6104 {source="MONDO:GARD"}
xref: ICD10CM:C91.1 {source="Orphanet:67038", source="Orphanet:67038/ntbt", source="DOID:1040"}
xref: ICD10CM:C91.10 {source="DOID:1040"}
xref: ICD9:204.1 {source="EFO:0000095", source="DOID:1040"}
xref: MedDRA:10008958 {source="Orphanet:67038", source="Orphanet:67038/e"}
xref: MEDGEN:44120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015451 {source="Orphanet:67038", source="MONDO:equivalentTo", source="Orphanet:67038/e", source="EFO:0000095", source="DOID:1040"}
xref: NCIT:C3163 {source="MONDO:equivalentTo", source="EFO:0000095", source="DOID:1040"}
xref: NORD:971 {source="MONDO:NORD"}
xref: OMIM:151400 {source="Orphanet:67038", source="MONDO:equivalentTo", source="Orphanet:67038/e", source="EFO:0000095", source="DOID:1040"}
xref: Orphanet:67038 {source="MONDO:equivalentTo", source="DOID:1040", source="OMIM:151400"}
xref: SCTID:154589005 {source="DOID:1040"}
xref: SCTID:277473004 {source="DOID:1040"}
xref: SCTID:51092000 {source="EFO:0000095", source="DOID:1040"}
xref: SCTID:92814006 {source="DOID:1040"}
xref: UMLS:C0023434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44120"}
is_a: MONDO:0001014 {source="NCIT:C3163"} ! chronic leukemia
is_a: MONDO:0004949 {source="EFO:0000095", source="NCIT:C3163/inferred"} ! neoplasm of mature B-cells
is_a: MONDO:0004967 {source="DOID:1040", source="MONDO:Redundant", source="MONDO:indirect"} ! acute lymphoblastic leukemia
is_a: MONDO:0005402 {source="MESH:D015451/inferred", source="NCIT:C3163"} ! lymphoid leukemia
is_a: MONDO:0017594 {source="Orphanet:67038"} ! indolent B-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0004949
name: neoplasm of mature B-cells
def: "A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)." [NCIT:P378]
comment: Editor note: is a non-hodgkin in ONCOTREE
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mature B-cell lymphocytic neoplasm" EXACT [DOID:706, NCIT:C27910]
synonym: "mature B-cell neoplasm" EXACT [NCIT:C27910]
synonym: "mature B-cell neoplasms" RELATED [ONCOTREE:MBN]
xref: DOID:706 {source="MONDO:equivalentTo"}
xref: EFO:0000096 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:202.0 {source="EFO:0000096"}
xref: MEDGEN:235305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008224 {source="EFO:0000096"}
xref: NCIT:C27910 {source="MONDO:equivalentTo", source="DOID:706"}
xref: NCIT:C3209 {source="EFO:0000096"}
xref: NCIT:C3457 {source="EFO:0000096", source="MONDO:directSiblingOf"}
xref: ONCOTREE:MBN {source="MONDO:equivalentTo"}
xref: SCTID:269476000 {source="EFO:0000096", source="MONDO:equivalentTo"}
xref: SCTID:40411000 {source="EFO:0000096"}
xref: SCTID:46744002 {source="EFO:0000096"}
xref: SCTID:55020008 {source="EFO:0000096"}
xref: SCTID:55150002 {source="EFO:0000096"}
xref: UMLS:C1334633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235305"}
is_a: MONDO:0004095 {source="DOID:706", source="NCIT:C27910"} ! B-cell neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000785 ! mature B cell

[Term]
id: MONDO:0004950
name: gastric carcinoma
def: "A carcinoma that arises from epithelial cells of the stomach." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca fundus - stomach" NARROW [DOID:10538]
synonym: "cancer of fundus of stomach" NARROW [MONDO:patterns/cancer]
synonym: "cancer of stomach" BROAD [NCIT:C4911]
synonym: "cancer of the stomach" BROAD [DOID:5517, NCIT:C4911]
synonym: "carcinoma of stomach" EXACT [DOID:5517, MONDO:patterns/carcinoma, NCIT:C4911]
synonym: "carcinoma of the stomach" EXACT [NCIT:C4911]
synonym: "fundus of stomach cancer" NARROW [MONDO:patterns/location]
synonym: "gastric (stomach) cancer" BROAD [NCIT:C4911]
synonym: "gastric cancer" BROAD [NCIT:C4911]
synonym: "gastric cancer, NOS" BROAD [NCIT:C4911]
synonym: "gastric carcinoma" EXACT [DOID:5517, NCIT:C4911]
synonym: "gastric fundus cancer" NARROW [DOID:10538]
synonym: "malignant fundus of stomach neoplasm" NARROW [MONDO:patterns/cancer]
synonym: "malignant neoplasm of fundus of stomach" NARROW [DOID:10538, ICD9CM:151.3, MONDO:patterns/cancer]
synonym: "malignant tumor of fundus of stomach" NARROW [DOID:10538]
synonym: "malignant tumour of fundus of stomach" NARROW OMO:0003005 []
synonym: "stomach cancer" BROAD [NCIT:C4911]
synonym: "stomach carcinoma" EXACT [MONDO:patterns/location, NCIT:C4911]
xref: DOID:10538 {source="MONDO:equivalentTo"}
xref: DOID:5517 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:0000178 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C16.1 {source="DOID:10538"}
xref: ICD9:151.3 {source="MONDO:equivalentTo", source="DOID:10538", source="MONDO:i2s"}
xref: ICD9:230.2 {source="MONDO:relatedTo", source="EFO:0000178"}
xref: MEDGEN:147066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4911 {source="EFO:0000178", source="MONDO:equivalentTo", source="DOID:5517"}
xref: SCTID:154446008 {source="DOID:5517"}
xref: SCTID:154449001 {source="DOID:10538"}
xref: SCTID:187741001 {source="MONDO:equivalentTo", source="DOID:10538"}
xref: SCTID:255080008 {source="DOID:5517"}
xref: SCTID:269528004 {source="DOID:10538"}
xref: SCTID:372143007 {source="DOID:5517"}
xref: SCTID:92756002 {source="MONDO:relatedTo", source="EFO:0000178"}
xref: SCTID:93809003 {source="DOID:10538"}
xref: UMLS:C0699791 {source="MEDGEN:147066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001056 {source="DOID:5517", source="MONDO:Redundant", source="NCIT:C4911"} ! gastric cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C4911"} ! digestive system carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: disease_has_location UBERON:0000945 {source="EFO:0000784"} ! stomach

[Term]
id: MONDO:0004951
name: susceptibility to HIV infection
def: "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." [NCIT:P378]
subset: predisposition
synonym: "acquired immunodeficiency syndrome, progression to" RELATED [OMIM:609423]
synonym: "AIDS, delayed/rapid progression to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "AIDS, progression to" RELATED [OMIM:609423]
synonym: "AIDS, rapid progression to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "AIDS, resistance to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "AIDS, slow progression to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "HIV infection, resistance to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "HIV type 1, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "HIV-1 disease, delayed progression of" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "HIV-1 disease, rapid progression of" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "HIV-1 viremia, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "HIV-1, resistance to" RELATED [OMIM:609423]
synonym: "HIV-1, susceptibility to" RELATED [OMIM:609423]
synonym: "HIV/AIDS, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "HIV1 infection, resistance to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "HIV1, resistance to" EXACT [OMIM:609423, OMIM:genemap2]
synonym: "human immunodeficiency virus type 1, resistance to" RELATED [OMIM:609423]
synonym: "human immunodeficiency virus type 1, susceptibility to" RELATED [OMIM:609423]
synonym: "rapid progression to AIDS from HIV1 infection" EXACT [OMIM:609423, OMIM:genemap2]
xref: MEDGEN:332156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C14220 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="EFO:0000180"}
xref: OMIM:609423 {source="MONDO:equivalentTo", source="EFO:0000180"}
xref: UMLS:C1836230 {source="MEDGEN:332156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005109 ! HIV infectious disease
relationship: disease_has_feature MONDO:0012268 ! AIDS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0004952
name: Hodgkins lymphoma
def: "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." [NCIT:C9357, Orphanet:98293]
subset: disease_grouping
subset: gard_rare {source="GARD:2714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1246"}
subset: ordo_group_of_disorders {source="Orphanet:98293"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HL" EXACT ABBREVIATION [DOID:8567, NCIT:C9357]
synonym: "Hodgkin disease" EXACT [DOID:8567, MTH:NOCODE, NCIT:C9357]
synonym: "Hodgkin lymphoma" EXACT [DOID:8567, NCIT:C9357]
synonym: "Hodgkin lymphoma, NOS" RELATED EXCLUDE [NCIT:C9357]
synonym: "Hodgkin's Disease" EXACT [NORD:1246]
synonym: "Hodgkin's disease" EXACT [NCIT:C9357, Orphanet:98293]
synonym: "Hodgkin's lymphoma" EXACT [NCIT:C9357, Orphanet:98293]
synonym: "Hodgkin's sarcoma" RELATED [DOID:8567, ICD9CM:201.2]
synonym: "Hodgkins lymphoma" EXACT [DOID:8567]
synonym: "lymphoma, Hodgkin's" RELATED [GARD:0002714]
synonym: "stage I subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5012]
synonym: "stage II subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5010]
xref: DOID:8567 {source="MONDO:equivalentTo", source="EFO:0000183"}
xref: EFO:0000183 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2714 {source="MONDO:GARD"}
xref: ICD10CM:C81 {source="DOID:8567"}
xref: ICD10CM:C81.9 {source="DOID:8567"}
xref: icd11.foundation:1528863768 {source="MONDO:equivalentTo", source="Orphanet:98293", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:201 {source="DOID:8567", source="EFO:0000183"}
xref: ICD9:201.0 {source="DOID:8567"}
xref: ICD9:201.1 {source="DOID:8567", source="EFO:0000183"}
xref: ICD9:201.2 {source="DOID:8567", source="EFO:0000183"}
xref: ICD9:201.9 {source="DOID:8567", source="EFO:0000183"}
xref: ICD9:201.90 {source="EFO:0000183"}
xref: ICDO:9650/3 {source="NCIT:C9357"}
xref: MESH:D006689 {source="DOID:8567", source="MONDO:equivalentTo", source="EFO:0000183"}
xref: NANDO:2200024 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26956 {source="DOID:8567"}
xref: NCIT:C5010 {source="EFO:0000183"}
xref: NCIT:C5012 {source="EFO:0000183"}
xref: NCIT:C6914 {source="DOID:8567", source="EFO:0000183"}
xref: NCIT:C7702 {source="EFO:0000183"}
xref: NCIT:C9357 {source="DOID:8567", source="MONDO:equivalentTo", source="EFO:0000183"}
xref: NORD:1246 {source="MONDO:NORD"}
xref: ONCOTREE:HL {source="MONDO:equivalentTo"}
xref: Orphanet:98293 {source="DOID:8567", source="MONDO:equivalentTo"}
xref: SCTID:118599009 {source="DOID:8567"}
xref: SCTID:118602004 {source="DOID:8567"}
xref: SCTID:118605002 {source="DOID:8567"}
xref: SCTID:118606001 {source="DOID:8567"}
xref: SCTID:14537002 {source="DOID:8567", source="EFO:0000183"}
xref: SCTID:154582001 {source="DOID:8567"}
xref: SCTID:188521005 {source="DOID:8567"}
xref: SCTID:188522003 {source="DOID:8567"}
xref: SCTID:188532005 {source="DOID:8567"}
xref: SCTID:188533000 {source="DOID:8567"}
xref: SCTID:188542007 {source="DOID:8567"}
xref: SCTID:188543002 {source="DOID:8567"}
xref: SCTID:188552006 {source="DOID:8567"}
xref: SCTID:188595005 {source="DOID:8567"}
xref: SCTID:188596006 {source="DOID:8567"}
xref: SCTID:188605006 {source="DOID:8567"}
xref: SCTID:189987006 {source="DOID:8567"}
xref: SCTID:189991001 {source="DOID:8567"}
xref: SCTID:189992008 {source="DOID:8567"}
xref: SCTID:269509006 {source="DOID:8567"}
xref: SCTID:309831004 {source="DOID:8567"}
xref: SCTID:46923007 {source="DOID:8567", source="EFO:0000183"}
xref: SCTID:52337003 {source="DOID:8567"}
xref: SCTID:70600005 {source="DOID:8567"}
xref: SCTID:74189002 {source="DOID:8567"}
is_a: MONDO:0005062 {source="DOID:8567", source="EFO:0000183", source="MESH:D006689", source="NCIT:C9357", source="Orphanet:98293"} ! lymphoma
is_a: MONDO:0017343 {source="Orphanet:98293"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder

[Term]
id: MONDO:0004953
name: invasive ductal breast carcinoma
def: "The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "breast invasive ductal carcinoma" RELATED [ONCOTREE:IDC]
synonym: "ductal adenocarcinoma" EXACT [DOID:3008, NCIT:C4017]
synonym: "infiltrating ductal adenocarcinoma" EXACT [NCIT:C4194]
synonym: "infiltrating ductal breast carcinoma" EXACT [NCIT:C4194]
synonym: "infiltrating ductal carcinoma" EXACT [NCIT:C4194]
synonym: "infiltrating ductal carcinoma of breast" EXACT [DOID:3008, NCIT:C4194]
synonym: "infiltrating ductal carcinoma of the breast" EXACT [NCIT:C4194]
synonym: "invasive ductal adenocarcinoma" EXACT [NCIT:C4194]
synonym: "invasive ductal breast carcinoma" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma of breast" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma of the breast" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma, No specific type" EXACT [NCIT:C4194]
synonym: "invasive ductal carcinoma, NOS" RELATED EXCLUDE [NCIT:C4194]
synonym: "invasive ductal carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4194]
synonym: "invasive ductal carcinoma, NST" EXACT [DOID:3008, NCIT:C4194]
xref: DOID:3008 {source="EFO:0000186", source="MONDO:equivalentTo"}
xref: EFO:0000186 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:174.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8500/3 {source="NCIT:C4194"}
xref: ICDO:8521/3 {source="NCIT:C4194"}
xref: MEDGEN:209548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018270 {source="DOID:3008"}
xref: NCIT:C4017 {source="DOID:3008"}
xref: NCIT:C4194 {source="EFO:0000186", source="MONDO:equivalentTo", source="DOID:3008"}
xref: ONCOTREE:IDC {source="MONDO:equivalentTo"}
xref: SCTID:408643008 {source="MONDO:equivalentTo", source="DOID:3008"}
xref: SCTID:58477004 {source="DOID:3008"}
xref: UMLS:C1134719 {source="MEDGEN:209548", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005590 {source="DOID:3008", source="MONDO:Redundant", source="NCIT:C4194"} ! breast ductal adenocarcinoma
is_a: MONDO:0006256 {source="MONDO:Redundant", source="NCIT:C4194", source="ONCOTREE:IDC"} ! invasive breast carcinoma
intersection_of: MONDO:0005590 ! breast ductal adenocarcinoma
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0004954
name: obsolete malt lymphoma
is_obsolete: true
replaced_by: MONDO:0007650

[Term]
id: MONDO:0004955
name: obsolete metabolic syndrome
xref: NANDO:1100002 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4425" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000816

[Term]
id: MONDO:0004956
name: metastatic prostate carcinoma
def: "A carcinoma that arises from the prostate gland and has spread to other anatomic sites." [NCIT:C8946]
subset: otar {source="MONDO:OTAR"}
synonym: "metastatic prostate cancer" EXACT [NCIT:C8946]
synonym: "metastatic prostate carcinoma" EXACT [NCIT:C8946]
synonym: "prostate cancer metastatic" EXACT [NCIT:C8946]
synonym: "prostate carcinoma metastatic" EXACT [NCIT:C8946]
xref: EFO:0000196 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:215232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8946 {source="EFO:0000196", source="MONDO:equivalentTo"}
xref: SCTID:314994000 {source="MONDO:equivalentTo"}
xref: UMLS:C0936223 {source="MEDGEN:215232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005159 {source="EFO:0000196", source="MONDO:Redundant", source="NCIT:C8946"} ! prostate carcinoma
intersection_of: MONDO:0005159 ! prostate carcinoma
intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic
relationship: disease_has_feature MONDO:0024879 ! metastatic carcinoma
relationship: disease_has_location UBERON:0002367 {source="EFO:0000784"} ! prostate gland

[Term]
id: MONDO:0004957
name: mucinous adenocarcinoma
def: "An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." [NCIT:C26712]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma, mucinous, malignant" EXACT [NCIT:C26712]
synonym: "CEMU" RELATED ABBREVIATION [ONCOTREE:CEMU]
synonym: "colloid adenocarcinoma" EXACT [NCIT:C26712]
synonym: "colloid carcinoma" EXACT [NCIT:C26712]
synonym: "gelatinous adenocarcinoma" EXACT [NCIT:C26712]
synonym: "gelatinous carcinoma" EXACT [NCIT:C26712]
synonym: "mucin-producing adenocarcinoma" EXACT [DOID:3030]
synonym: "mucin-producing adenocarcinoma (morphologic abnormality)" EXACT [DOID:3030]
synonym: "mucin-secreting adenocarcinoma" EXACT [DOID:3030, NCIT:C27379]
synonym: "mucin-secreting carcinoma" EXACT [DOID:3030, NCIT:C27825]
synonym: "mucinous adenocarcinoma" EXACT [NCIT:C26712]
synonym: "mucinous carcinoma" EXACT [NCIT:C26712]
synonym: "mucinuos carcinoma" EXACT [MONDO:0006310]
synonym: "mucoid adenocarcinoma" EXACT [NCIT:C26712]
synonym: "mucoid carcinoma" EXACT [NCIT:C26712]
synonym: "mucous adenocarcinoma" EXACT [NCIT:C26712]
synonym: "mucous carcinoma" EXACT [DOID:3030, NCIT:C26712]
synonym: "pseudomyxoma peritonei with unknown primary site" EXACT [DOID:3030]
xref: DOID:3030 {source="EFO:0000197", source="MONDO:equivalentTo"}
xref: EFO:0000197 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8480/3 {source="NCIT:C26712"}
xref: MEDGEN:2844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002288 {source="MONDO:equivalentTo", source="DOID:3030"}
xref: NCIT:C26712 {source="EFO:0000197", source="MONDO:equivalentTo", source="EFO:1000387", source="DOID:3030"}
xref: NCIT:C27379 {source="DOID:3030"}
xref: NCIT:C27825 {source="DOID:3030"}
xref: ONCOTREE:CEMU {source="MONDO:equivalentTo"}
xref: SCTID:72495009 {source="EFO:0000197", source="DOID:3030"}
xref: SCTID:900006 {source="DOID:3030"}
xref: UMLS:C0007130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2844"}
is_a: MONDO:0004970 {source="DOID:3030", source="EFO:1000387", source="MESH:D002288", source="MONDO:Redundant", source="NCIT:C26712"} ! adenocarcinoma
is_a: MONDO:0024338 {source="MONDO:Redundant", source="NCIT:C26712"} ! mucinous neoplasm
intersection_of: MONDO:0004970 {source="NCIT:C26712"} ! adenocarcinoma
intersection_of: MONDO:0024338 {source="NCIT:C26712"} ! mucinous neoplasm

[Term]
id: MONDO:0004958
name: oral cavity squamous cell carcinoma
def: "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." [NCIT:C4833]
subset: gard_rare {source="GARD:17932", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:502363"}
subset: orphanet_rare {source="Orphanet:502363"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mouth scc" EXACT [NCIT:C4833]
synonym: "mouth squamous cell carcinoma" EXACT [DOID:0050866, MONDO:patterns/location, NCIT:C4833]
synonym: "OCSC" RELATED ABBREVIATION [ONCOTREE:OCSC]
synonym: "oral cavity scc" EXACT [NCIT:C4833]
synonym: "oral cavity squamous cell cancer" EXACT [NCIT:C4833]
synonym: "oral cavity squamous cell carcinoma" EXACT [NCIT:C4833]
synonym: "oral squamous cell carcinoma" RELATED [DOID:0050866, GARD:0007263]
synonym: "scc of mouth" EXACT [NCIT:C4833]
synonym: "scc of oral cavity" EXACT [NCIT:C4833]
synonym: "scc of the mouth" EXACT [NCIT:C4833]
synonym: "scc of the oral cavity" EXACT [NCIT:C4833]
synonym: "squamous cell carcinoma of mouth" EXACT [NCIT:C4833]
synonym: "squamous cell carcinoma of oral cavity" EXACT [NCIT:C4833]
synonym: "squamous cell carcinoma of the mouth" EXACT [NCIT:C4833]
synonym: "squamous cell carcinoma of the oral cavity" EXACT [NCIT:C4833]
xref: DOID:0050866 {source="EFO:0000199", source="MONDO:equivalentTo"}
xref: EFO:0000199 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17932 {source="MONDO:GARD"}
xref: MEDGEN:108436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4833 {source="EFO:0000199", source="MONDO:equivalentTo"}
xref: ONCOTREE:OCSC {source="MONDO:equivalentTo"}
xref: Orphanet:502363 {source="MONDO:equivalentTo"}
xref: SCTID:307502000 {source="EFO:0000199", source="MONDO:equivalentTo"}
xref: UMLS:C0585362 {source="MEDGEN:108436", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005515 {source="DOID:0050866", source="NCIT:C4833/inferred"} ! oral cavity cancer
is_a: MONDO:0010150 {source="EFO:0000199", source="MONDO:Entailed", source="NCIT:C4833/inferred", source="ONCOTREE:OCSC"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000165 ! mouth
relationship: disease_has_location UBERON:0000165 {source="EFO:0000784"} ! mouth
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma" xsd:anyURI {source="GARD:0007263"}

[Term]
id: MONDO:0004959
name: plasma cell neoplasm
def: "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." [NCIT:C4665]
comment: See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39
subset: disease_grouping
subset: gard_rare {source="GARD:19440", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "plasma cell disorder" RELATED []
synonym: "plasma cell dyscrasia" EXACT [NCIT:C4665]
synonym: "plasma cell neoplasm" EXACT [NCIT:C4665]
synonym: "plasma cell tumor" EXACT [DOID:6536, MONDO:0020079, NCIT:C4665]
synonym: "plasma cell tumor, malignant" EXACT [NCIT:C4665]
synonym: "plasma cell tumour" EXACT OMO:0003005 []
synonym: "plasmacytic neoplasm" EXACT [NCIT:C4665]
synonym: "plasmacytic tumor" EXACT [DOID:6536, NCIT:C4665]
synonym: "plasmacytic tumour" EXACT OMO:0003005 []
xref: DOID:6536 {source="EFO:0000200", source="MONDO:equivalentTo"}
xref: EFO:0000200 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19440 {source="MONDO:GARD"}
xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:368758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010265 {source="DOID:6536"}
xref: MESH:D054219 {source="MONDO:equivalentTo"}
xref: NCIT:C4665 {source="EFO:0000200", source="MONDO:equivalentTo"}
xref: Orphanet:98282 {source="MONDO:equivalentTo"}
xref: SCTID:277576009 {source="DOID:6536"}
xref: SCTID:415111003 {source="EFO:0000200", source="MONDO:equivalentTo"}
xref: SCTID:71390001 {source="DOID:6536"}
xref: UMLS:C1959632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:368758"}
is_a: MONDO:0004949 {source="DOID:6536", source="EFO:0000200", source="NCIT:C4665"} ! neoplasm of mature B-cells
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000786 ! plasma cell
relationship: disease_arises_from_structure CL:0000786 {source="NCIT:C4665"} ! plasma cell

[Term]
id: MONDO:0004960
name: monoclonal gammopathy
def: "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine." [https://github.com/monarch-initiative/mondo/issues/227, NCIT:C35548]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0000203 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D47.2 {source="MONDO:equivalentTo"}
xref: MEDGEN:210153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008998 {source="EFO:0000203"}
xref: MESH:D010265 {source="MONDO:equivalentTo"}
xref: NCIT:C35548 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000203", source="MONDO:exact-label-match"}
xref: SCTID:109983007 {source="MONDO:equivalentTo"}
xref: SCTID:277577000 {source="EFO:0000203"}
xref: SCTID:35601003 {source="EFO:0000203"}
xref: SCTID:58648008 {source="EFO:0000203"}
xref: UMLS:C1136085 {source="MEDGEN:210153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="EFO:0000203", source="EFO:pr", source="MESH:D010265/inferred", source="https://github.com/EBISPOT/efo/issues/149"} ! hematologic disorder
relationship: excluded_subClassOf MONDO:0004959 {source="EFO:0000203", source="https://orcid.org/0000-0001-5208-3432"} ! plasma cell neoplasm

[Term]
id: MONDO:0004961
name: stage I endometrioid carcinoma
def: "Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." [EFO:0000205]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: SCTID:254878006 {source="EFO:0000205"}
is_a: MONDO:0005026 {source="https://github.com/monarch-initiative/mondo/issues/490"} ! endometrioid adenocarcinoma
relationship: excluded_subClassOf MONDO:0021007 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete stage of disease
relationship: part_of_progression_of_disease MONDO:0002447 ! endometrial carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0004962
name: stage II endometrioid carcinoma
def: "Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus." [EFO:0000206]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: SCTID:254878006 {source="EFO:0000206"}
is_a: MONDO:0005026 {source="https://orcid.org/0000-0001-5208-3432"} ! endometrioid adenocarcinoma
relationship: excluded_subClassOf MONDO:0021007 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete stage of disease
relationship: part_of_progression_of_disease MONDO:0002447 ! endometrial carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0004963
name: T-cell acute lymphoblastic leukemia
def: "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)" [NCIT:C3183]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute T cell leukaemia" BROAD OMO:0003005 []
synonym: "acute T cell leukemia" EXACT [NCIT:C3183]
synonym: "acute T cell lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "acute T cell lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "acute T cell lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute T cell lymphocytic leukemia" EXACT [NCIT:C3183]
synonym: "acute T-cell leukaemia" EXACT OMO:0003005 []
synonym: "acute T-cell leukemia" EXACT [NCIT:C3183]
synonym: "acute T-cell lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "acute T-cell lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "acute T-cell lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute T-cell lymphocytic leukemia" EXACT [NCIT:C3183]
synonym: "precursor T lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "precursor T lymphoblastic leukemia" EXACT [DOID:5603, NCIT:C3183]
synonym: "precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "precursor T-lymphoblastic leukaemia (T-cell ALL)" EXACT OMO:0003005 []
synonym: "precursor T-lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "precursor T-lymphoblastic leukemia (T-cell ALL)" EXACT [NCIT:C3183]
synonym: "T acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "T acute lymphoblastic leukemia" EXACT [NCIT:C3183]
synonym: "T-ALL" EXACT [NCIT:C3183]
synonym: "T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "T-cell acute lymphoblastic leukemia" EXACT [DOID:5603, NCIT:C3183]
synonym: "T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "T-cell acute lymphocytic leukemia" EXACT [NCIT:C3183]
synonym: "T-cell ALL" EXACT [NCIT:C3183]
synonym: "T-cell type acute leukaemia" EXACT OMO:0003005 []
synonym: "T-cell type acute leukemia" EXACT [NCIT:C3183]
xref: CSP:2004-1600 {source="DOID:5603"}
xref: CSP:2004-1803 {source="DOID:5603"}
xref: DOID:0050523 {source="MONDO:relatedTo", source="EFO:0000209"}
xref: DOID:5603 {source="MONDO:equivalentTo", source="EFO:0000209"}
xref: EFO:0000209 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HGNC:5056 {source="EFO:0000209"}
xref: ICD10CM:C91.5 {source="DOID:5603"}
xref: ICD10CM:C91.50 {source="DOID:5603"}
xref: ICDO:9837/3 {source="NCIT:C3183"}
xref: MEDGEN:368378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015459 {source="DOID:5603", source="EFO:0000209"}
xref: NANDO:2200003 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3183 {source="MONDO:equivalentTo", source="EFO:0000209"}
xref: NCIT:C3184 {source="DOID:5603"}
xref: SCTID:110007008 {source="DOID:5603", source="MONDO:directSiblingOf"}
xref: SCTID:188729005 {source="DOID:5603"}
xref: SCTID:277575008 {source="MONDO:equivalentTo", source="EFO:0000209"}
xref: SCTID:77430005 {source="DOID:5603"}
xref: UMLS:C1961099 {source="MEDGEN:368378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004967 {source="EFO:0000209", source="MONDO:Redundant", source="NCIT:C3183"} ! acute lymphoblastic leukemia
is_a: MONDO:0005525 {source="DOID:5603"} ! T-cell leukemia
intersection_of: MONDO:0004967 ! acute lymphoblastic leukemia
intersection_of: disease_arises_from_structure CL:0000084 ! T cell
intersection_of: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7186" xsd:anyURI

[Term]
id: MONDO:0004964
name: peripheral T-cell lymphoma, not otherwise specified
def: "Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant." [NCIT:C4340]
comment: Reason: duplicate. This will be merged with MONDO:0019476 Peripheral T-cell lymphoma
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peripheral T-cell lymphoma, NOS" RELATED EXCLUDE [NCIT:C4340]
synonym: "peripheral T-cell lymphoma, not otherwise specified" EXACT [NCIT:C4340]
synonym: "PTCL" RELATED ABBREVIATION [ONCOTREE:PTCL]
xref: EFO:0000211 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: NANDO:2200028 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4340 {source="EFO:0000211", source="MONDO:equivalentTo"}
xref: ONCOTREE:PTCL {source="MONDO:equivalentTo"}
is_a: MONDO:0005062 {source="EFO:0000211", source="NCIT:C4340/inferred"} ! lymphoma
is_a: MONDO:0005169 {source="EFO:0000211", source="NCIT:C4340/inferred"} ! neoplasm of mature T-cells or NK-cells
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7188" xsd:anyURI
property_value: IAO:0006012 "2024-04-01" xsd:string

[Term]
id: MONDO:0004965
name: acinar cell carcinoma
def: "A carcinoma that arises from epithelial cells of the acinar cell" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "ACCC" RELATED ABBREVIATION [ONCOTREE:ACCC]
synonym: "acinar adenocarcinoma" EXACT [NCIT:C3768]
synonym: "acinar carcinoma" EXACT [NCIT:C3768]
synonym: "acinar cell adenocarcinoma" EXACT [NCIT:C3768]
synonym: "acinar cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C3768]
synonym: "acinar cell carcinoma (morphologic abnormality)" EXACT [DOID:3025]
synonym: "acinic cell adenocarcinoma" EXACT [NCIT:C3768]
synonym: "acinic cell carcinoma" EXACT [DOID:3025, NCIT:C3768]
synonym: "acinic cell tumor" RELATED [GARD:0008568]
synonym: "acinic cell tumour" RELATED OMO:0003005 []
synonym: "carcinoma of acinar cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, acinar cell, malignant" EXACT [NCIT:C3768]
xref: DOID:3025 {source="MONDO:equivalentTo", source="EFO:0000216"}
xref: EFO:0000216 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8550/3 {source="NCIT:C3768"}
xref: MEDGEN:61660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018267 {source="DOID:3025", source="MONDO:equivalentTo", source="EFO:0000216"}
xref: NCIT:C3768 {source="DOID:3025", source="MONDO:equivalentTo", source="EFO:0000216"}
xref: ONCOTREE:ACCC {source="MONDO:equivalentTo"}
xref: SCTID:45410002 {source="DOID:3025", source="EFO:0000216"}
xref: UMLS:C0206685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61660"}
is_a: MONDO:0004970 {source="MESH:D018267", source="NCIT:C3768"} ! adenocarcinoma
is_a: MONDO:0004993 {source="DOID:3025", source="EFO:0000216", source="MESH:D018267/inferred", source="MONDO:0004965/inferred", source="MONDO:Redundant", source="NCIT:C3768/inferred"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location CL:0000622 ! acinar cell

[Term]
id: MONDO:0004966
name: gastritis
def: "Inflammation of the stomach." [NCIT:C26780]
subset: otar {source="MONDO:OTAR"}
synonym: "acute gastric mucosal erosion" NARROW [DOID:4029]
synonym: "erosive gastritis" NARROW [DOID:4029]
synonym: "erosive gastropathy" NARROW [DOID:4029]
synonym: "gastritis" EXACT [MONDO:ambiguous, NCIT:C26780]
synonym: "gastritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "inflammation of stomach" EXACT []
synonym: "stomach inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:4029 {source="MONDO:equivalentTo", source="EFO:0000217"}
xref: EFO:0000217 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0005263 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K29.7 {source="DOID:4029"}
xref: ICD9:535.0 {source="EFO:0000217"}
xref: ICD9:535.00 {source="EFO:0000217"}
xref: ICD9:535.01 {source="EFO:0000217"}
xref: ICD9:535.4 {source="EFO:0000217"}
xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:0000217"}
xref: ICD9:535.41 {source="EFO:0000217"}
xref: MEDGEN:4843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005756 {source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217"}
xref: NCIT:C26780 {source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217"}
xref: SCTID:155711008 {source="DOID:4029"}
xref: SCTID:196743006 {source="DOID:4029"}
xref: SCTID:235653009 {source="DOID:4029"}
xref: SCTID:266503008 {source="DOID:4029"}
xref: SCTID:4556007 {source="MONDO:equivalentTo", source="DOID:4029", source="EFO:0000217"}
xref: UMLS:C0017152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4843"}
is_a: MONDO:0004298 {source="DOID:4029", source="MESH:D005756", source="MONDO:Redundant", source="NCIT:C26780/inferred"} ! stomach disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach
relationship: disease_has_location UBERON:0000945 {source="EFO:0000784"} ! stomach
property_value: IAO:0000589 "gastritis (disease)" xsd:string

[Term]
id: MONDO:0004967
name: acute lymphoblastic leukemia
def: "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." [NCIT:C3167]
subset: disease_grouping
subset: gard_rare {source="GARD:522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:513"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute lymphoblastic leukaemia (ALL)" EXACT OMO:0003005 []
synonym: "acute lymphoblastic leukaemia (disease)" EXACT OMO:0003005 []
synonym: "acute lymphoblastic leukemia" EXACT [DOID:9952, MONDO:ambiguous, NCIT:C3167]
synonym: "acute lymphoblastic leukemia (ALL)" EXACT [NCIT:C3167]
synonym: "acute lymphoblastic leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "acute lymphoblastic leukemia, NOS" RELATED EXCLUDE [NCIT:C3167]
synonym: "acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:513]
synonym: "acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute lymphocytic leukemia" EXACT [GARD:0000522, NCIT:C3167, Orphanet:513]
synonym: "acute lymphocytic leukemias" EXACT [NCIT:C3167]
synonym: "acute lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "acute lymphogenous leukemia" EXACT [NCIT:C3167]
synonym: "acute lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "acute lymphoid leukemia" EXACT [NCIT:C3167]
synonym: "ALL" EXACT ABBREVIATION [GARD:0000522, NCIT:C3167, Orphanet:513]
synonym: "ALL - acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "ALL - acute lymphocytic leukemia" EXACT [NCIT:C3167]
synonym: "leukemia, lymphoblastic, malignant" EXACT [NCIT:C3167]
synonym: "lymphoblastic leukaemia" BROAD OMO:0003005 []
synonym: "lymphoblastic leukemia" BROAD [NCIT:C3167]
synonym: "lymphoblastic leukemia, acute" EXACT [MONDO:patterns/acute]
synonym: "precursor cell lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "precursor cell lymphoblastic leukemia" EXACT [NCIT:C3167]
synonym: "precursor Lymphoblasic leukaemia" EXACT OMO:0003005 []
synonym: "precursor Lymphoblasic leukemia" EXACT [NCIT:C3167]
synonym: "precursor lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "precursor lymphoblastic leukemia" EXACT [NCIT:C3167]
xref: DOID:9952 {source="EFO:0000220", source="MONDO:equivalentTo"}
xref: EFO:0000220 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:522 {source="MONDO:GARD"}
xref: HP:0006721 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C91 {source="DOID:1037"}
xref: ICD10CM:C91.0 {source="DOID:9952", source="Orphanet:513", source="Orphanet:513/e"}
xref: ICD10CM:C91.00 {source="DOID:9952"}
xref: ICD10CM:C91.9 {source="DOID:1037"}
xref: ICD10CM:C91.90 {source="DOID:1037"}
xref: ICD9:204 {source="DOID:1037"}
xref: ICD9:204.0 {source="DOID:9952", source="EFO:0000220"}
xref: ICD9:204.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:204.9 {source="DOID:1037"}
xref: ICDO:9835/3 {source="NCIT:C3167"}
xref: MEDGEN:7317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007945 {source="DOID:1037"}
xref: MESH:D015452 {source="EFO:0000220"}
xref: MESH:D054198 {source="EFO:0000220"}
xref: NCIT:C3167 {source="DOID:9952", source="EFO:0000220", source="MONDO:equivalentTo"}
xref: Orphanet:513 {source="DOID:9952", source="MONDO:equivalentTo", source="GARD:0000522"}
xref: SCTID:128807009 {source="EFO:0000220"}
xref: SCTID:128822004 {source="DOID:9952", source="EFO:0000220"}
xref: SCTID:128823009 {source="EFO:0000220"}
xref: SCTID:154587007 {source="DOID:1037"}
xref: SCTID:154588002 {source="DOID:9952"}
xref: SCTID:188725004 {source="DOID:1037"}
xref: SCTID:188731001 {source="DOID:1037"}
xref: SCTID:190033006 {source="DOID:1037"}
xref: SCTID:190034000 {source="DOID:9952"}
xref: SCTID:269631008 {source="DOID:1037"}
xref: SCTID:32280000 {source="DOID:1037"}
xref: SCTID:900000000000452009 {source="EFO:0000220"}
xref: SCTID:90151006 {source="DOID:9952"}
xref: SCTID:91857003 {source="DOID:9952", source="EFO:0000220", source="MONDO:equivalentTo"}
xref: SCTID:93170002 {source="DOID:1037"}
xref: UMLS:C0023449 {source="MEDGEN:7317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003538 {source="EFO:0000220", source="NCIT:C3167"} ! precursor lymphoblastic lymphoma/leukemia
is_a: MONDO:0005168 {source="EFO:0000220"} ! neoplasm of immature B and T cells
is_a: MONDO:0005402 {source="NCIT:C3167"} ! lymphoid leukemia
is_a: MONDO:0018908 {source="Orphanet:513"} ! non-Hodgkin lymphoma
intersection_of: MONDO:0005402 ! lymphoid leukemia
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000589 "acute lymphoblastic leukemia (disease)" xsd:string

[Term]
id: MONDO:0004968
name: obsolete acute myelomonocytic leukemia
is_obsolete: true
replaced_by: MONDO:0018871

[Term]
id: MONDO:0004969
name: acute quadriplegic myopathy
def: "Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." [EFO:0000225]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0000225 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1843474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1135345 {source="MEDGEN:1843474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="EFO:0000225"} ! myopathy
relationship: disease_has_location UBERON:0001015 {source="EFO:0000784"} ! musculature
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004970
name: adenocarcinoma
def: "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma." [NCIT:C2852]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma" EXACT [NCIT:C2852]
synonym: "adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:299]
synonym: "adenocarcinoma, malignant" EXACT [NCIT:C2852]
synonym: "adenocarcinoma, no subtype (morphologic abnormality)" EXACT [DOID:299]
synonym: "adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C2852]
synonym: "adenocarcinomas" EXACT [DOID:299]
synonym: "ADNOS" RELATED ABBREVIATION [ONCOTREE:ADNOS]
xref: CSP:2000-0386 {source="DOID:299"}
xref: DOID:299 {source="MONDO:equivalentTo", source="EFO:0000228"}
xref: EFO:0000228 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8140/3 {source="NCIT:C2852"}
xref: MEDGEN:122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000230 {source="MONDO:equivalentTo", source="EFO:0000228", source="DOID:299"}
xref: NCIT:C2852 {source="MONDO:equivalentTo", source="EFO:0000228", source="MONDO:exact-label-match", source="DOID:299"}
xref: ONCOTREE:ADNOS {source="MONDO:equivalentTo"}
xref: SCTID:189578007 {source="DOID:299"}
xref: SCTID:189582009 {source="DOID:299"}
xref: SCTID:35917007 {source="EFO:0000228", source="DOID:299"}
xref: SCTID:443961001 {source="MONDO:equivalentTo", source="DOID:299"}
xref: UMLS:C0001418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:122"}
is_a: MONDO:0004993 {source="DOID:299", source="EFO:0000228", source="MESH:D000230", source="NCIT:C2852"} ! carcinoma
is_a: MONDO:0024276 {source="NCIT:C2852"} ! glandular cell neoplasm
disjoint_from: MONDO:0004972 ! adenoma
relationship: disease_has_location CL:0000066 {source="EFO:0000784"} ! epithelial cell

[Term]
id: MONDO:0004971
name: adenoid cystic carcinoma
def: "A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic." [NCIT:C2970]
subset: gard_rare {source="GARD:5743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocystic carcinoma" EXACT [GARD:0005743, NCIT:C2970]
synonym: "adenoid cystic cancer" EXACT [NCIT:C2970]
synonym: "adenoid cystic carcinoma" EXACT [NCIT:C2970]
synonym: "cribriform carcinoma" RELATED [GARD:0005743]
synonym: "cylindroid adenocarcinoma" EXACT [NCIT:C2970]
synonym: "cylindroma" RELATED [GARD:0005743]
xref: DOID:0080202 {source="MONDO:equivalentTo"}
xref: EFO:0000231 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5743 {source="MONDO:GARD"}
xref: ICDO:8200/3 {source="NCIT:C2970"}
xref: MEDGEN:41382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003528 {source="EFO:0000231", source="DOID:0080202", source="MONDO:equivalentTo"}
xref: NCIT:C2970 {source="EFO:0000231", source="DOID:0080202", source="MONDO:equivalentTo"}
xref: ONCOTREE:ACYC {source="MONDO:equivalentTo"}
xref: SCTID:11671000 {source="EFO:0000231"}
xref: UMLS:C0010606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41382"}
is_a: MONDO:0004970 {source="DOID:0080202", source="MESH:D003528"} ! adenocarcinoma
is_a: MONDO:0004993 {source="DOID:0080202/inferred", source="EFO:0000231", source="MESH:D003528/inferred", source="MONDO:0004971/inferred", source="NCIT:C2970"} ! carcinoma

[Term]
id: MONDO:0004972
name: adenoma
def: "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." [NCIT:C2855]
comment: Editor note: check status re benign
subset: otar {source="MONDO:OTAR"}
synonym: "acinar cell adenoma" NARROW [DOID:657]
synonym: "acinar cell adenoma (morphologic abnormality)" NARROW [DOID:657]
synonym: "acinic cell adenoma" EXACT [DOID:657]
synonym: "adenoma" EXACT [NCIT:C2855]
synonym: "adenoma, benign" NARROW [NCIT:C2855]
synonym: "adenomas" EXACT [DOID:657]
xref: DOID:657 {source="EFO:0000232", source="MONDO:equivalentTo"}
xref: EFO:0000232 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8140/0 {source="NCIT:C2855"}
xref: MEDGEN:125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000236 {source="DOID:657", source="EFO:0000232", source="MONDO:equivalentTo"}
xref: NCIT:C2855 {source="DOID:657", source="EFO:0000232", source="MONDO:equivalentTo"}
xref: SCTID:189578007 {source="DOID:657"}
xref: SCTID:189579004 {source="DOID:657"}
xref: SCTID:32048006 {source="DOID:657", source="EFO:0000232"}
xref: SCTID:443416007 {source="DOID:657", source="MONDO:equivalentTo"}
xref: SCTID:79041005 {source="DOID:657"}
xref: UMLS:C0001430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:125"}
is_a: MONDO:0005626 {source="EFO:0000232", source="MESH:D000236", source="NCIT:C2855"} ! epithelial neoplasm
relationship: disease_has_location UBERON:0002530 ! gland

[Term]
id: MONDO:0004973
name: adenosquamous lung carcinoma
def: "An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." [NCIT:C9133]
subset: otar {source="MONDO:OTAR"}
synonym: "adenosquamous cell lung carcinoma" EXACT [NCIT:C9133]
synonym: "adenosquamous lung cancer" EXACT [NCIT:C9133]
synonym: "adenosquamous lung carcinoma" EXACT [DOID:4829, NCIT:C9133]
synonym: "lung adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4829 {source="EFO:0000233", source="MONDO:equivalentTo"}
xref: EFO:0000233 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:79006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9133 {source="EFO:0000233", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4829"}
xref: ONCOTREE:LUAS {source="MONDO:equivalentTo"}
xref: SCTID:707405009 {source="MONDO:equivalentTo"}
xref: UMLS:C0279557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79006"}
is_a: MONDO:0005233 {source="DOID:4829", source="MONDO:Redundant", source="NCIT:C9133", source="ONCOTREE:LUAS"} ! non-small cell lung carcinoma
is_a: MONDO:0006074 {source="MONDO:Redundant", source="NCIT:C9133"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung

[Term]
id: MONDO:0004974
name: adrenal gland pheochromocytoma
def: "A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present." [NCIT:C3326]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal gland chromaffin paraganglioma" EXACT [NCIT:C3326]
synonym: "adrenal gland Chromaffinoma" EXACT [NCIT:C3326]
synonym: "adrenal gland paraganglioma" EXACT [NCIT:C3326]
synonym: "adrenal gland pheochromocytoma" EXACT [NCIT:C3326]
synonym: "adrenal medullary paraganglioma" EXACT [NCIT:C3326]
synonym: "adrenal medullary pheochromocytoma" EXACT [NCIT:C3326]
synonym: "adrenal pheochromocytoma" EXACT [NCIT:C3326]
synonym: "chromaffin paraganglioma of the adrenal gland" EXACT [NCIT:C3326]
synonym: "Intraadrenal paraganglioma" EXACT [NCIT:C3326]
synonym: "PCC" EXACT ABBREVIATION [NCIT:C3326]
synonym: "pheochromocytoma" BROAD [NCIT:C3326]
synonym: "pheochromocytoma (adrenal)" EXACT [NCIT:C3326]
xref: DOID:0050892 {source="MONDO:equivalentTo", source="EFO:0000239"}
xref: EFO:0000239 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8700/0 {source="NCIT:C3326"}
xref: MEDGEN:1636437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010673 {source="EFO:0000239"}
xref: NANDO:2200078 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3326 {source="MONDO:equivalentTo", source="EFO:0000239"}
xref: SCTID:302835009 {source="EFO:0000239"}
xref: SCTID:85583005 {source="EFO:0000239"}
xref: UMLS:C4551683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636437"}
is_a: MONDO:0005495 {source="DOID:0050892/inferred", source="MONDO:Redundant", source="NCIT:C3326/inferred"} ! adrenal gland disorder
is_a: MONDO:0021072 {source="NCIT:C3326"} ! sympathetic paraganglioma
is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C3326"} ! adrenal medulla neoplasm
is_a: MONDO:0021635 {source="MONDO:Redundant", source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: disease_arises_from_structure CL:0000336 {source="EFO:0000784"} ! adrenal medulla chromaffin cell
relationship: disease_has_location UBERON:0001236 {source="NCIT:C3326"} ! adrenal medulla

[Term]
id: MONDO:0004975
name: Alzheimer disease
def: "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "AD" EXACT ABBREVIATION [DOID:10652]
synonym: "Alzheimer dementia" EXACT [NCIT:C2866]
synonym: "Alzheimer disease" EXACT [DOID:10652, NCIT:C2866]
synonym: "Alzheimer disease, familial" NARROW [DOID:10652, MESH:C536597]
synonym: "Alzheimer's dementia" EXACT [NCIT:C2866]
synonym: "Alzheimer's disease" EXACT [ISBN-13:978-1-259-64403-0, NCIT:C2866]
synonym: "Alzheimers dementia" EXACT [DOID:10652, NCIT:C2866]
synonym: "Alzheimers disease" EXACT [DOID:10652]
synonym: "presenile and senile dementia" EXACT [OMIM:104300]
xref: DOID:10652 {source="MONDO:equivalentTo", source="EFO:0000249"}
xref: HP:0002511 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G30 {source="MONDO:equivalentTo", source="DOID:10652"}
xref: ICD10CM:G30.9 {source="DOID:10652"}
xref: ICD9:290.1 {source="EFO:0000249"}
xref: ICD9:331.0 {source="EFO:0000249", source="DOID:10652"}
xref: MEDGEN:1853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000544 {source="MONDO:equivalentTo", source="EFO:0000249", source="DOID:10652"}
xref: NCIT:C2866 {source="MONDO:equivalentTo", source="EFO:0000249", source="DOID:10652"}
xref: NCIT:C34524 {source="EFO:0000249"}
xref: NCIT:C38778 {source="MONDO:otherHierarchy", source="EFO:0000249"}
xref: NIFSTD:birnlex_2092 {source="EFO:0000249"}
xref: OMIM:104300 {source="MONDO:includedEntryInOMIM", source="EFO:0000249", source="DOID:10652"}
xref: Orphanet:238616 {source="MONDO:equivalentObsolete"}
xref: SCTID:12348006 {source="EFO:0000249"}
xref: SCTID:142811000119104 {source="MONDO:equivalentTo"}
xref: SCTID:154998003 {source="DOID:10652"}
xref: SCTID:15662003 {source="EFO:0000249"}
xref: SCTID:267688001 {source="DOID:10652"}
xref: SCTID:26929004 {source="EFO:0000249", source="DOID:10652"}
xref: SCTID:73768007 {source="DOID:10652"}
xref: UMLS:C0002395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1853"}
is_a: MONDO:0001627 {source="MESH:D000544", source="NCIT:C2866"} ! dementia
is_a: MONDO:0005574 {source="DOID:10652", source="MESH:D000544"} ! tauopathy
relationship: disease_has_feature HP:0002185 ! Neurofibrillary tangles
relationship: disease_has_location UBERON:0001017 {source="EFO:0000784"} ! central nervous system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4013" xsd:anyURI

[Term]
id: MONDO:0004976
name: amyotrophic lateral sclerosis
def: "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord." [Orphanet:803]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5786", source="MONDO:GARD"}
subset: nord_rare {source="NORD:768", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:803"}
subset: orphanet_rare {source="Orphanet:803"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALS" EXACT ABBREVIATION [DOID:332, NCIT:C34373, Orphanet:803]
synonym: "amyotrophic lateral sclerosis" EXACT CLINGEN_LABEL []
synonym: "Charcot disease" EXACT [Orphanet:803]
synonym: "Lou Gehrig disease" EXACT [Orphanet:803]
synonym: "Lou Gehrig's disease" EXACT [DOID:332]
synonym: "motor neuron disease, bulbar" EXACT [DOID:332]
xref: DOID:332 {source="EFO:0000253", source="MONDO:equivalentTo"}
xref: GARD:5786 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:803", source="Orphanet:803/ntbt"}
xref: ICD10CM:G12.21 {source="MONDO:equivalentTo", source="DOID:332"}
xref: icd11.foundation:1982355687 {source="MONDO:equivalentTo", source="Orphanet:803"}
xref: ICD9:335.20 {source="EFO:0000253", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:332"}
xref: MedDRA:10002026 {source="Orphanet:803", source="Orphanet:803/e"}
xref: MEDGEN:274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000690 {source="EFO:0000253", source="MONDO:equivalentTo", source="Orphanet:803", source="DOID:332", source="Orphanet:803/e"}
xref: NANDO:1200002 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34373 {source="EFO:0000253", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:332"}
xref: NIFSTD:birnlex_12566 {source="EFO:0000253"}
xref: NORD:768 {source="MONDO:NORD"}
xref: Orphanet:803 {source="MONDO:equivalentTo", source="DOID:332"}
xref: SCTID:86044005 {source="EFO:0000253", source="MONDO:equivalentTo", source="DOID:332"}
xref: UMLS:C0002736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274"}
is_a: MONDO:0003182 {source="Wikipedia:Anterior_horn_disease"} ! anterior horn disorder
is_a: MONDO:0005559 {source="Orphanet:803"} ! neurodegenerative disease
is_a: MONDO:0020128 {source="DOID:332", source="ICD10CM:G12.21", source="MESH:D000690", source="MONDO:Redundant", source="Orphanet:803"} ! motor neuron disorder
relationship: disease_has_feature HP:0007354 ! Amyotrophic lateral sclerosis
relationship: disease_has_location CL:0000100 {source="EFO:0000784"} ! motor neuron
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare

[Term]
id: MONDO:0004977
name: angioimmunoblastic T-cell lymphoma
def: "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive." [NCIT:C7528, PMID:22700722]
subset: gard_rare {source="GARD:11973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:784"}
subset: ordo_disorder {source="Orphanet:86886"}
subset: orphanet_rare {source="Orphanet:86886"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AILD" EXACT ABBREVIATION [NCIT:C7528]
synonym: "AILT" EXACT ABBREVIATION [Orphanet:86886]
synonym: "AITL" RELATED ABBREVIATION [GARD:0011973, ONCOTREE:AITL]
synonym: "angioimmunoblastic lymphadenopathy" EXACT [NCIT:C7528]
synonym: "angioimmunoblastic lymphadenopathy type T-cell lymphoma" EXACT [NCIT:C7528]
synonym: "angioimmunoblastic lymphadenopathy with Dysproteinemia" EXACT [NCIT:C7528]
synonym: "angioimmunoblastic T-cell lymphoma" EXACT [MONDO:0019477]
synonym: "immunoblastic lymphadenopathy" EXACT [Orphanet:86886]
synonym: "lymphogranulomatosis X" EXACT [Orphanet:86886]
synonym: "T-cell lymphoma, AILD type" EXACT [Orphanet:86886]
xref: DOID:0111147 {source="MONDO:equivalentTo"}
xref: EFO:0000255 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:11973 {source="MONDO:GARD"}
xref: ICD10CM:C86.5 {source="Orphanet:86886", source="MONDO:equivalentTo", source="Orphanet:86886/e", source="DOID:0111147"}
xref: icd11.foundation:1254954229 {source="Orphanet:86886", source="MONDO:equivalentTo"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9705/3 {source="NCIT:C7528"}
xref: ICDO:9767/1 {source="NCIT:C7528"}
xref: MedDRA:10002449 {source="Orphanet:86886", source="Orphanet:86886/e", source="DOID:0111147"}
xref: MEDGEN:7025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007119 {source="MONDO:equivalentTo"}
xref: NANDO:2200029 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7528 {source="EFO:0000255", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:0111147"}
xref: NORD:784 {source="MONDO:NORD"}
xref: ONCOTREE:AITL {source="MONDO:equivalentTo"}
xref: Orphanet:86886 {source="MONDO:equivalentTo", source="DOID:0111147"}
xref: SCTID:127216000 {source="DOID:0111147"}
xref: SCTID:413537009 {source="EFO:0000255", source="MONDO:equivalentTo", source="DOID:0111147"}
xref: SCTID:52097008 {source="DOID:0111147"}
xref: SCTID:835009 {source="EFO:0000255", source="DOID:0111147"}
xref: UMLS:C0020981 {source="MEDGEN:7025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000430 {source="DOID:0111147", source="DOID:0111147/inferred", source="MONDO:Redundant", source="NCIT:C7528/inferred"} ! mature T-cell and NK-cell non-Hodgkin lymphoma
is_a: MONDO:0005169 {source="EFO:0000255", source="NCIT:C7528/inferred"} ! neoplasm of mature T-cells or NK-cells
is_a: MONDO:0015760 {source="NCIT:C7528/inferred", source="Orphanet:86886"} ! T-cell non-Hodgkin lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma" xsd:anyURI {source="GARD:0011973"}

[Term]
id: MONDO:0004978
name: obsolete aortic stenosis
xref: NANDO:2100098 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
is_obsolete: true
replaced_by: MONDO:0042981

[Term]
id: MONDO:0004979
name: asthma
def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." [EFO:0000270]
subset: otar {source="MONDO:OTAR"}
synonym: "bronchial hyperreactivity" EXACT [DOID:2841]
synonym: "chronic obstructive asthma" NARROW [DOID:2841]
synonym: "chronic obstructive asthma with acute exacerbation" NARROW [DOID:2841]
synonym: "chronic obstructive asthma with status asthmaticus" NARROW [DOID:2841]
synonym: "exercise induced asthma" NARROW [DOID:2841]
synonym: "exercise-induced asthma" NARROW [DOID:2841]
xref: DOID:2841 {source="MONDO:equivalentTo", source="EFO:0000270"}
xref: HP:0002099 {source="MONDO:otherHierarchy"}
xref: ICD10CM:J45 {source="MONDO:equivalentTo", source="DOID:2841"}
xref: ICD10CM:J45.90 {source="DOID:2841"}
xref: ICD10CM:J45.909 {source="DOID:2841"}
xref: ICD9:493 {source="DOID:2841", source="EFO:0000270"}
xref: ICD9:493.81 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:493.9 {source="DOID:2841"}
xref: MEDGEN:2109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001249 {source="MONDO:equivalentTo", source="DOID:2841", source="EFO:0000270"}
xref: NCIT:C28397 {source="MONDO:equivalentTo", source="DOID:2841", source="EFO:0000270"}
xref: SCTID:155574008 {source="DOID:2841"}
xref: SCTID:155579003 {source="DOID:2841"}
xref: SCTID:187687003 {source="DOID:2841"}
xref: SCTID:195967001 {source="DOID:2841", source="EFO:0000270"}
xref: SCTID:195979001 {source="DOID:2841"}
xref: SCTID:195983001 {source="DOID:2841"}
xref: SCTID:21341004 {source="DOID:2841"}
xref: SCTID:266365004 {source="DOID:2841"}
xref: SCTID:266398009 {source="DOID:2841"}
xref: SCTID:278517007 {source="DOID:2841"}
xref: SCTID:31387002 {source="MONDO:equivalentTo"}
xref: UMLS:C0004096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2109"}
is_a: MONDO:0001358 {source="DOID:2841", source="EFO:0000270", source="MESH:D001249"} ! bronchial disorder

[Term]
id: MONDO:0004980
name: atopic eczema
def: "A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema." [MESH:D003876]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic dermatitis" EXACT [DOID:3310]
synonym: "allergic form of dermatitis" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "Atopic dermatitis" EXACT [DOID:3310]
synonym: "atopic eczema" EXACT [DOID:3310]
synonym: "Atopic neurodermatitis" EXACT [DOID:3310]
synonym: "Besnier's prurigo" EXACT [DOID:3310]
synonym: "eczema" EXACT [NCIT:C3001]
synonym: "eczematous dermatitis" EXACT [NCIT:C3001]
xref: DOID:3310 {source="EFO:0000274", source="MONDO:equivalentTo"}
xref: EFO:0000274 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001047 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0002-9584-9618"}
xref: ICD10CM:L20 {source="DOID:3310", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-9584-9618"}
xref: ICD10CM:L20-L30 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L20.81 {source="DOID:3310"}
xref: ICD10CM:L20.9 {source="DOID:3310"}
xref: ICD9:691 {source="EFO:0000274"}
xref: ICD9:691.8 {source="EFO:0000274"}
xref: MEDGEN:41502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003876 {source="DOID:3310", source="EFO:0000274"}
xref: NCIT:C3001 {source="MONDO:equivalentTo"}
xref: OMIMPS:603165 {source="DOID:3310", source="MONDO:equivalentTo"}
xref: SCTID:156331003 {source="DOID:3310"}
xref: SCTID:200772001 {source="DOID:3310"}
xref: SCTID:200775004 {source="DOID:3310", source="EFO:0000274", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-9584-9618"}
xref: SCTID:200779005 {source="DOID:3310"}
xref: SCTID:24079001 {source="DOID:3310", source="EFO:0000274", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-9584-9618"}
xref: SCTID:90823000 {source="EFO:0000274"}
xref: UMLS:C0011615 {source="MEDGEN:41502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="DOID:3310", source="EFO:0000274", source="MONDO:Redundant", source="NCIT:C3001"} ! dermatitis
is_a: MONDO:0005271 {source="EFO:0000274", source="MONDO:Redundant"} ! allergic disease
intersection_of: MONDO:0002406 ! dermatitis
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity
relationship: disease_has_feature HP:0000964 ! Eczematoid dermatitis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603165"} ! inherited

[Term]
id: MONDO:0004981
name: atrial fibrillation
def: "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "A-fib" EXACT [DOID:0060224]
synonym: "AF" EXACT ABBREVIATION [NCIT:C50466]
synonym: "AFib" EXACT [NCIT:C50466]
synonym: "atrial fibrillation" EXACT [MONDO:ambiguous]
synonym: "atrial fibrillation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060224 {source="EFO:0000275", source="MONDO:equivalentTo"}
xref: EFO:0000275 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0005110 {source="DOID:0060224", source="MONDO:otherHierarchy"}
xref: ICD10CM:I48 {source="DOID:0060224"}
xref: ICD9:427.31 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001281 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo"}
xref: NANDO:2100051 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200226 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50466 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo"}
xref: SCTID:155364009 {source="DOID:0060224"}
xref: SCTID:266306001 {source="DOID:0060224"}
xref: SCTID:49436004 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo"}
xref: UMLS:C0004238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:445"}
is_a: MONDO:0007263 {source="EFO:0000275", source="NCIT:C50466"} ! cardiac rhythm disease
relationship: disease_has_location UBERON:0002081 {source="EFO:0000784"} ! cardiac atrium
property_value: IAO:0000589 "atrial fibrillation (disease)" xsd:string

[Term]
id: MONDO:0004982
name: pancreatitis
def: "Inflammation of the pancreas." [NCIT:C3306]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of pancreas" EXACT []
synonym: "pancreas inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:4989 {source="MONDO:equivalentTo", source="EFO:0000278"}
xref: EFO:0000278 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K85.9 {source="DOID:4989"}
xref: MEDGEN:14586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010195 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989"}
xref: NCIT:C3306 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989", source="MONDO:exact-label-match"}
xref: SCTID:197461009 {source="DOID:4989"}
xref: SCTID:393591004 {source="DOID:4989"}
xref: SCTID:75694006 {source="MONDO:equivalentTo", source="EFO:0000278", source="DOID:4989"}
xref: UMLS:C0030305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14586"}
is_a: MONDO:0002356 {source="DOID:4989", source="MESH:D010195", source="MONDO:Redundant", source="NCIT:C3306/inferred"} ! pancreas disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001264 ! pancreas
relationship: disease_has_location UBERON:0001264 {source="EFO:0000784"} ! pancreas

[Term]
id: MONDO:0004983
name: spermatogenic failure
def: "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa." [DOID:0111910]
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure" EXACT [DOID:14227]
xref: DOID:0111910 {source="MONDO:equivalentTo"}
xref: EFO:0000279 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:766708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:258150 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C3553794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766708"}
is_a: MONDO:0005372 {source="DOID:14227", source="MESH:D053713"} ! male infertility
relationship: disease_has_location CL:0000019 {source="EFO:0000784"} ! sperm
relationship: disease_has_location UBERON:0000079 {source="EFO:0000784"} ! male reproductive system
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:258150"} ! inherited

[Term]
id: MONDO:0004984
name: basal-like breast carcinoma
def: "A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis." [NCIT:C53558]
subset: otar {source="MONDO:OTAR"}
synonym: "basal-like breast cancer" EXACT [NCIT:C53558]
synonym: "basal-like breast carcinoma" EXACT [NCIT:C53558]
synonym: "basal-like subtype of breast carcinoma" EXACT [NCIT:C53558]
xref: EFO:0000281 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:770987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53558 {source="MONDO:equivalentTo", source="EFO:0000281"}
xref: UMLS:C3642347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:770987"}
is_a: MONDO:0004953 {source="EFO:0000281"} ! invasive ductal breast carcinoma
is_a: MONDO:0006116 {source="NCIT:C53558"} ! breast carcinoma by gene expression profile
relationship: disease_has_feature NCIT:C15493 ! Estrogen Receptor Negative
relationship: disease_has_feature NCIT:C15497 ! Progesterone Receptor Negative
relationship: disease_has_feature NCIT:C36104 ! Aggressive Clinical Course
relationship: disease_has_feature NCIT:C38328 ! Unfavorable Clinical Outcome
relationship: disease_has_feature NCIT:C68749 ! HER2/Neu Negative

[Term]
id: MONDO:0004985
name: bipolar disorder
def: "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." [NCIT:C34423]
subset: otar {source="MONDO:OTAR"}
synonym: "bipolar affective disorder" RELATED []
synonym: "bipolar depression" NARROW [DOID:3312]
synonym: "bipolar disorder" EXACT [NCIT:C34423]
synonym: "bipolar disorder manic phase" NARROW [DOID:3312]
synonym: "depressive-manic psych." RELATED [DOID:3312]
synonym: "MAFD" RELATED ABBREVIATION []
synonym: "major affective disorder" EXACT [MONDO:0000055]
synonym: "major bipolar affective disorder" RELATED []
synonym: "manic bipolar affective disorder" NARROW [DOID:3312, NCIT:C34805]
synonym: "manic bipolar I disorder" NARROW [DOID:3312]
synonym: "manic depression" NARROW [DOID:3312]
synonym: "manic depressive disorder" NARROW [DOID:3312, NCIT:C34423]
synonym: "manic disorder" NARROW [DOID:3312]
synonym: "manic-depression" EXACT [NCIT:C34423]
synonym: "manic-depressive illness" RELATED []
synonym: "manic-depressive psychosis" RELATED []
synonym: "mixed bipolar disorder" NARROW [DOID:3312]
xref: DOID:3312 {source="MONDO:equivalentTo", source="EFO:0000289"}
xref: ICD10CM:F31 {source="DOID:3312", source="MONDO:equivalentTo"}
xref: ICD10CM:F31.9 {source="DOID:3312"}
xref: ICD10WHO:F31 {source="MONDO:equivalentTo"}
xref: ICD9:296.40 {source="DOID:3312"}
xref: ICD9:296.60 {source="DOID:3312"}
xref: ICD9:296.80 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289", source="MONDO:i2s"}
xref: ICD9:296.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:2649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001714 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"}
xref: NCIT:C34423 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"}
xref: NCIT:C34424 {source="DOID:3312"}
xref: NCIT:C34805 {source="DOID:3312"}
xref: NIFSTD:birnlex_12754 {source="EFO:0000289"}
xref: SCTID:13746004 {source="DOID:3312", source="MONDO:equivalentTo", source="EFO:0000289"}
xref: SCTID:154871001 {source="DOID:3312"}
xref: SCTID:16506000 {source="DOID:3312"}
xref: SCTID:191627008 {source="DOID:3312"}
xref: SCTID:191646009 {source="DOID:3312"}
xref: SCTID:191647000 {source="DOID:3312"}
xref: SCTID:191654006 {source="DOID:3312"}
xref: SCTID:192355004 {source="DOID:3312"}
xref: SCTID:192365005 {source="DOID:3312"}
xref: SCTID:268749008 {source="DOID:3312"}
xref: SCTID:68569003 {source="DOID:3312"}
xref: UMLS:C0005586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2649"}
is_a: MONDO:0005084 {source="EFO:0000289", source="EFO:0000289/inferred", source="ICD10CM:F31/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! mental disorder
is_a: MONDO:0005371 {source="DOID:3312", source="EFO:0000289", source="ICD10CM:F31", source="NCIT:C34423", source="NCIT:C34805/inferred"} ! mood disorder
relationship: disease_has_feature MONDO:0004617 {source="MONDO:Wikidata"} ! recurrent hypersomnia

[Term]
id: MONDO:0004986
name: urinary bladder carcinoma
def: "A carcinoma that arises from epithelial cells of the urinary bladder" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder cancer" BROAD [NCIT:C4912]
synonym: "bladder carcinoma" EXACT [MONDO:ambiguous, NCIT:C4912]
synonym: "cancer of bladder" BROAD [NCIT:C4912]
synonym: "cancer of the bladder" BROAD [NCIT:C4912]
synonym: "cancer of the urinary bladder" BROAD [NCIT:C4912]
synonym: "cancer of urinary bladder" BROAD [NCIT:C4912]
synonym: "carcinoma bladder" EXACT [DOID:4007]
synonym: "carcinoma of bladder" EXACT [DOID:4007, MTH:108, NCIT:C4912]
synonym: "carcinoma of the bladder" EXACT [NCIT:C4912]
synonym: "carcinoma of the urinary bladder" EXACT [NCIT:C4912]
synonym: "carcinoma of urinary bladder" EXACT [DOID:4007, MONDO:patterns/carcinoma, NCIT:C4912]
synonym: "urinary bladder cancer" BROAD [NCIT:C4912]
synonym: "urinary bladder carcinoma" EXACT [MONDO:patterns/location, NCIT:C4912]
xref: DOID:4007 {source="MONDO:equivalentTo", source="EFO:0000292"}
xref: HP:0002862 {source="MONDO:otherHierarchy"}
xref: MEDGEN:147071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001749 {source="EFO:0000292"}
xref: NCIT:C4912 {source="MONDO:equivalentTo", source="DOID:4007", source="EFO:0000292"}
xref: SCTID:154540000 {source="DOID:4007"}
xref: SCTID:255108000 {source="MONDO:equivalentTo", source="DOID:4007", source="EFO:0000292"}
xref: SCTID:269607003 {source="DOID:4007"}
xref: UMLS:C0699885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:147071"}
is_a: MONDO:0001187 {source="DOID:4007", source="MONDO:Redundant", source="NCIT:C4912"} ! urinary bladder cancer
is_a: MONDO:0004993 {source="DOID:4007", source="EFO:0000292", source="MONDO:Redundant", source="NCIT:C4912"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder
relationship: disease_has_location UBERON:0001255 {source="EFO:0000784"} ! urinary bladder

[Term]
id: MONDO:0004987
name: urinary bladder neoplasm
def: "A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003" [NCIT:C2901]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder neoplasm" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C2901]
synonym: "bladder tumor" EXACT [NCIT:C2901]
synonym: "bladder tumors" EXACT [NCIT:C2901]
synonym: "bladder tumour" EXACT OMO:0003005 []
synonym: "bladder tumours" EXACT OMO:0003005 []
synonym: "neoplasm of bladder" EXACT [NCIT:C2901]
synonym: "neoplasm of the bladder" EXACT [NCIT:C2901]
synonym: "neoplasm of the urinary bladder" EXACT [NCIT:C2901]
synonym: "neoplasm of urinary bladder" EXACT [MONDO:patterns/neoplasm, NCIT:C2901]
synonym: "tumor of bladder" EXACT [NCIT:C2901]
synonym: "tumor of the bladder" EXACT [NCIT:C2901]
synonym: "tumor of the urinary bladder" EXACT [NCIT:C2901]
synonym: "tumor of urinary bladder" EXACT [MONDO:patterns/neoplasm, NCIT:C2901]
synonym: "tumour of bladder" EXACT OMO:0003005 []
synonym: "tumour of the bladder" EXACT OMO:0003005 []
synonym: "tumour of the urinary bladder" EXACT OMO:0003005 []
synonym: "tumour of urinary bladder" EXACT OMO:0003005 []
synonym: "urinary bladder neoplasm" EXACT [NCIT:C2901]
synonym: "urinary bladder neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "urinary bladder neoplasms" EXACT [NCIT:C2901]
synonym: "urinary bladder tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2901]
synonym: "urinary bladder tumors" EXACT [NCIT:C2901]
synonym: "urinary bladder tumour" EXACT OMO:0003005 []
synonym: "urinary bladder tumours" EXACT OMO:0003005 []
xref: EFO:0000294 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001749 {source="EFO:0000294"}
xref: NCIT:C2901 {source="EFO:0000294", source="MONDO:equivalentTo"}
xref: SCTID:126885006 {source="EFO:0000294", source="MONDO:equivalentTo"}
xref: UMLS:C0005695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:594"}
is_a: MONDO:0006026 {source="MONDO:Redundant", source="NCIT:C2901"} ! urinary bladder disorder
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C2901"} ! urinary system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder
relationship: disease_has_location UBERON:0001255 {source="EFO:0000784"} ! urinary bladder

[Term]
id: MONDO:0004988
name: breast adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the breast" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of breast" EXACT [DOID:3458, NCIT:C5214]
synonym: "adenocarcinoma of the breast" EXACT [NCIT:C5214]
synonym: "breast adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5214]
synonym: "mammary adenocarcinoma" EXACT [DOID:3458, NCIT:C5214]
xref: DOID:3458 {source="MONDO:equivalentTo", source="EFO:0000304"}
xref: EFO:0000304 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:167809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5214 {source="DOID:3458", source="MONDO:equivalentTo", source="EFO:0000304", source="MONDO:exact-label-match"}
xref: UMLS:C0858252 {source="MEDGEN:167809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:3458", source="EFO:0000304", source="MONDO:Redundant", source="NCIT:C5214"} ! adenocarcinoma
is_a: MONDO:0004989 {source="DOID:3458", source="EFO:0000304", source="MONDO:Redundant", source="NCIT:C5214"} ! breast carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast
relationship: disease_has_location UBERON:0001911 {source="EFO:0000784"} ! mammary gland

[Term]
id: MONDO:0004989
name: breast carcinoma
def: "A carcinoma that arises from epithelial cells of the breast" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "breast cancer" BROAD [NCIT:C4872]
synonym: "breast cancer, NOS" BROAD [NCIT:C4872]
synonym: "breast carcinoma" EXACT [MONDO:patterns/location, NCIT:C4872]
synonym: "cancer of breast" BROAD [NCIT:C4872]
synonym: "cancer of the breast" BROAD [NCIT:C4872]
synonym: "cancer, breast" BROAD [NCIT:C4872]
synonym: "carcinoma of breast" EXACT [DOID:3459, MONDO:patterns/carcinoma, NCIT:C4872]
synonym: "carcinoma of the breast" EXACT [NCIT:C4872]
synonym: "mammary carcinoma" EXACT [DOID:3459, NCIT:C4872]
xref: DOID:3459 {source="MONDO:equivalentTo", source="EFO:0000305"}
xref: EFO:0000305 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:146260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001943 {source="EFO:0000305"}
xref: NCIT:C4872 {source="MONDO:equivalentTo", source="DOID:3459", source="EFO:0000305"}
xref: SCTID:154513000 {source="DOID:3459"}
xref: SCTID:254838004 {source="MONDO:equivalentTo", source="DOID:3459", source="EFO:0000305"}
xref: SCTID:286898006 {source="DOID:3459"}
xref: UMLS:C0678222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146260"}
is_a: MONDO:0004993 {source="DOID:3459", source="EFO:0000305", source="MONDO:Redundant", source="NCIT:C4872"} ! carcinoma
is_a: MONDO:0007254 {source="DOID:3459", source="MONDO:Redundant", source="NCIT:C4872"} ! breast cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0004990
name: breast tumor luminal A or B
def: "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." [NCIT:C53554, NCIT:C53555]
subset: otar {source="MONDO:OTAR"}
synonym: "breast tumor luminal" EXACT [DOID:0060548]
synonym: "breast tumour luminal" EXACT OMO:0003005 []
synonym: "luminal breast cancer" EXACT [DOID:0060548]
synonym: "luminal breast carcinoma" RELATED [DOID:0060548]
xref: DOID:0060548 {source="MONDO:equivalentTo"}
xref: EFO:0000306 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: NCIT:C53554 {source="EFO:0000306"}
xref: NCIT:C53555 {source="EFO:0000306"}
is_a: MONDO:0006116 {source="NCIT:C53555"} ! breast carcinoma by gene expression profile

[Term]
id: MONDO:0004991
name: minimally invasive lung adenocarcinoma
def: "A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous." [NCIT:C2923, NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bac" EXACT [NCIT:C2923]
synonym: "bronchioalveolar adenocarcinoma of lung" EXACT [NCIT:C2923]
synonym: "bronchioalveolar adenocarcinoma of the lung" EXACT [NCIT:C2923]
synonym: "bronchioalveolar lung carcinoma" EXACT [DOID:4926, NCIT:C2923]
synonym: "bronchiolo-alveolar adenocarcinoma" RELATED [DOID:4926]
synonym: "bronchiolo-alveolar carcinoma of lung" EXACT [NCIT:C2923]
synonym: "bronchiolo-alveolar carcinoma of the lung" EXACT [NCIT:C2923]
synonym: "bronchiolo-alveolar lung carcinoma" EXACT [NCIT:C2923]
synonym: "bronchioloalveolar adenocarcinoma of lung" EXACT [NCIT:C2923]
synonym: "bronchioloalveolar adenocarcinoma of the lung" EXACT [NCIT:C2923]
synonym: "bronchioloalveolar carcinoma" EXACT [DOID:4926, NCIT:C2923]
synonym: "bronchioloalveolar lung adenocarcinoma" EXACT [NCIT:C2923]
synonym: "carcinoma, bronchioloalveolar, malignant" EXACT [NCIT:C2923]
synonym: "minimally invasive lung adenocarcinoma" EXACT [DOID:4926, NCIT:C2923]
xref: DOID:4926 {source="MONDO:equivalentTo", source="EFO:0000308"}
xref: EFO:0000308 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8250/3 {source="NCIT:C2923"}
xref: ICDO:8251/3 {source="NCIT:C2923"}
xref: MEDGEN:2871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002282 {source="MONDO:equivalentTo", source="DOID:4926", source="EFO:0000308"}
xref: NCIT:C2923 {source="MONDO:equivalentTo", source="DOID:4926", source="EFO:0000308"}
xref: SCTID:112677002 {source="DOID:4926", source="EFO:0000308"}
xref: SCTID:307595008 {source="DOID:4926"}
xref: SCTID:36310008 {source="DOID:4926", source="EFO:0000308"}
xref: SCTID:373627005 {source="MONDO:equivalentTo", source="DOID:4926", source="EFO:0000308"}
xref: UMLS:C0007120 {source="MEDGEN:2871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005061 {source="DOID:4926", source="NCIT:C2923"} ! lung adenocarcinoma
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung

[Term]
id: MONDO:0004992
name: cancer
def: "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." [NCIT:C9305]
subset: otar {source="MONDO:OTAR"}
synonym: "CA" EXACT ABBREVIATION [NCIT:C9305]
synonym: "cancer" EXACT [NCIT:C9305]
synonym: "cell type cancer" EXACT [MONDO:0000404]
synonym: "malignancy" EXACT [NCIT:C9305]
synonym: "malignant growth" EXACT [NCIT:C9305]
synonym: "malignant neoplasm" EXACT [DOID:162, NCIT:C9305]
synonym: "malignant neoplasm (disease)" EXACT []
synonym: "malignant neoplastic disease" EXACT [NCIT:C9305]
synonym: "malignant tumor" EXACT [DOID:162, NCIT:C9305]
synonym: "malignant tumour" EXACT OMO:0003005 []
synonym: "MT" RELATED ABBREVIATION [ONCOTREE:MT]
synonym: "neoplasm (disease), malignant" EXACT [MONDO:patterns/malignant]
synonym: "neoplasm, malignant" EXACT [NCIT:C9305]
synonym: "primary cancer" EXACT [DOID:162]
xref: DOID:0050686 {source="MONDO:equivalentTo"}
xref: DOID:0050687 {source="MONDO:equivalentTo"}
xref: DOID:162 {source="MONDO:equivalentTo", source="EFO:0000311", source="MONDO:preferredExternal"}
xref: ICD10CM:C76-C80 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:C80 {source="DOID:162"}
xref: ICD10CM:C80.1 {source="DOID:162"}
xref: ICD9:195.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:199 {source="DOID:162"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8000/3 {source="NCIT:C9305"}
xref: MEDGEN:14297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009369 {source="DOID:162"}
xref: MESH:D009371 {source="DOID:0050686"}
xref: NCIT:C9305 {source="MONDO:equivalentTo", source="EFO:0000311", source="DOID:162"}
xref: NIFSTD:birnlex_406 {source="EFO:0000311"}
xref: ONCOTREE:MT {source="MONDO:equivalentTo"}
xref: SCTID:154432008 {source="DOID:162"}
xref: SCTID:154433003 {source="DOID:162"}
xref: SCTID:154577008 {source="DOID:162"}
xref: SCTID:187597000 {source="DOID:162"}
xref: SCTID:188475001 {source="DOID:162"}
xref: SCTID:188482002 {source="DOID:162"}
xref: SCTID:190150006 {source="DOID:162"}
xref: SCTID:269513004 {source="DOID:162"}
xref: SCTID:269623003 {source="DOID:162"}
xref: SCTID:269626006 {source="DOID:162"}
xref: SCTID:269634000 {source="DOID:162"}
xref: SCTID:363346000 {source="MONDO:equivalentTo", source="DOID:162"}
xref: SCTID:38807002 {source="DOID:162"}
xref: UMLS:C0006826 {source="MONDO:equivalentTo", source="MEDGEN:14297", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="DOID:0050686/inferred", source="DOID:0050687/inferred", source="DOID:162", source="EFO:0000311", source="MONDO:Redundant", source="NCIT:C9305/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
disjoint_from: MONDO:0005165 ! benign neoplasm

[Term]
id: MONDO:0004993
name: carcinoma
def: "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas." [NCIT:C2916]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma" EXACT [NCIT:C2916]
synonym: "carcinoma, malignant" EXACT [NCIT:C2916]
synonym: "carcinoma, NOS" RELATED EXCLUDE [NCIT:C2916]
synonym: "epithelial carcinoma" EXACT [NCIT:C2916]
synonym: "epithelioma" BROAD [DOID:305]
synonym: "epithelioma malignant" EXACT [NCIT:C2916]
synonym: "malignant epithelial neoplasm" EXACT [NCIT:C2916]
synonym: "malignant epithelial tumor" EXACT [NCIT:C2916]
synonym: "malignant epithelial tumour" EXACT OMO:0003005 []
synonym: "malignant epithelioma" EXACT [DOID:305, NCIT:C2916, NCIT:C6927]
synonym: "Other carcinoma" EXACT [NCIT:C2916]
xref: CSP:2000-1867 {source="DOID:305"}
xref: DOID:305 {source="MONDO:equivalentTo", source="EFO:0000313"}
xref: EFO:0000313 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8010/3 {source="NCIT:C2916"}
xref: ICDO:8011/3 {source="NCIT:C2916"}
xref: MEDGEN:2867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002277 {source="DOID:305", source="MONDO:equivalentTo", source="EFO:0000313"}
xref: MESH:D009375 {source="DOID:305"}
xref: NCIT:C2916 {source="DOID:305", source="MONDO:equivalentTo", source="EFO:0000313"}
xref: SCTID:118285006 {source="DOID:305"}
xref: SCTID:134207000 {source="DOID:305"}
xref: SCTID:154433003 {source="DOID:305"}
xref: SCTID:188083002 {source="DOID:305"}
xref: SCTID:189546004 {source="DOID:305"}
xref: SCTID:189549006 {source="DOID:305"}
xref: SCTID:189559007 {source="DOID:305"}
xref: SCTID:269513004 {source="DOID:305"}
xref: SCTID:68453008 {source="DOID:305", source="EFO:0000313"}
xref: SCTID:71298006 {source="DOID:305"}
xref: SCTID:722688002 {source="MONDO:equivalentTo"}
xref: UMLS:C0007097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2867"}
is_a: MONDO:0004992 {source="DOID:305", source="DOID:305/inferred", source="EFO:0000313", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0005626 {source="MESH:D002277", source="MONDO:Redundant", source="NCIT:C2916"} ! epithelial neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_arises_from_structure CL:0000066 ! epithelial cell
relationship: disease_has_location CL:0000066 {source="EFO:0000784"} ! epithelial cell

[Term]
id: MONDO:0004994
name: cardiomyopathy
def: "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." [NCIT:C34830]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:167848"}
subset: otar {source="MONDO:OTAR"}
synonym: "Cardiomyopathies" EXACT [DOID:0050700, MESH:D009202]
synonym: "cardiomyopathy" EXACT [MONDO:0015670]
xref: DOID:0050700 {source="MONDO:equivalentTo", source="EFO:0000318"}
xref: EFO:0000318 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I42 {source="DOID:0050700", source="MONDO:equivalentTo"}
xref: ICD10CM:I42.9 {source="DOID:0050700"}
xref: ICD10CM:I51.5 {source="DOID:0050700"}
xref: ICD9:425 {source="DOID:0050700", source="EFO:0000318"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:425.9 {source="DOID:0050700"}
xref: MedDRA:10007636 {source="Orphanet:167848/e", source="Orphanet:167848"}
xref: MEDGEN:209232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009202 {source="Orphanet:167848/e", source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318", source="Orphanet:167848"}
xref: NCIT:C34830 {source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318"}
xref: NCIT:C53654 {source="DOID:0050700"}
xref: Orphanet:167848 {source="MONDO:equivalentTo"}
xref: SCTID:155351008 {source="DOID:0050700"}
xref: SCTID:155353006 {source="DOID:0050700"}
xref: SCTID:195035002 {source="DOID:0050700"}
xref: SCTID:195037005 {source="DOID:0050700"}
xref: SCTID:20072003 {source="DOID:0050700"}
xref: SCTID:266244008 {source="DOID:0050700"}
xref: SCTID:266301006 {source="DOID:0050700"}
xref: SCTID:57809008 {source="MONDO:relatedTo", source="DOID:0050700"}
xref: SCTID:85898001 {source="DOID:0050700", source="MONDO:equivalentTo", source="EFO:0000318"}
xref: SCTID:89461002 {source="DOID:0050700"}
xref: SCTID:89600009 {source="DOID:0050700"}
xref: UMLS:C0878544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209232"}
is_a: MONDO:0005267 {source="Orphanet:167848"} ! heart disorder
relationship: disease_has_location UBERON:0001133 ! cardiac muscle tissue
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019996"} ! rare

[Term]
id: MONDO:0004995
name: cardiovascular disorder
def: "A disease involving the cardiovascular system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "cardiovascular disease" EXACT [DOID:1287, NCIT:C2931]
synonym: "cardiovascular disease (CVD)" EXACT [NCIT:C2931]
synonym: "cardiovascular disorder" EXACT [NCIT:C2931]
synonym: "cardiovascular system disease" EXACT [MONDO:patterns/location]
synonym: "cardiovascular system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "circulatory system disease" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of cardiovascular system" EXACT [MONDO:patterns/location_top]
synonym: "disease of subdivision of hemolymphoid system" EXACT [DOID:1287]
synonym: "disease or disorder of cardiovascular system" EXACT []
synonym: "disorder of cardiovascular system" EXACT [MONDO:patterns/location_top, NCIT:C2931]
xref: DOID:1287 {source="MONDO:equivalentTo", source="EFO:0000319"}
xref: EFO:0000319 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I00-I99
xref: ICD10CM:P19-P29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:390-459.99 {source="EFO:0000319"}
xref: ICD9:420-429.99 {source="EFO:0000319"}
xref: ICD9:423 {source="EFO:0000319"}
xref: ICD9:423.8 {source="EFO:0000319"}
xref: ICD9:424 {source="EFO:0000319"}
xref: ICD9:429 {source="EFO:0000319"}
xref: ICD9:429.2 {source="DOID:1287", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000319"}
xref: ICD9:429.7 {source="EFO:0000319"}
xref: ICD9:429.8 {source="EFO:0000319"}
xref: ICD9:429.81 {source="EFO:0000319"}
xref: ICD9:429.89 {source="EFO:0000319"}
xref: ICD9:459.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:459.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000319"}
xref: MEDGEN:2848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002318 {source="DOID:1287", source="MONDO:equivalentTo", source="EFO:0000319"}
xref: NANDO:1100005 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2931 {source="DOID:1287", source="MONDO:equivalentTo", source="EFO:0000319"}
xref: SCTID:105980002 {source="EFO:0000319"}
xref: SCTID:155263000 {source="DOID:1287"}
xref: SCTID:194707003 {source="DOID:1287"}
xref: SCTID:195139006 {source="DOID:1287"}
xref: SCTID:195594006 {source="DOID:1287"}
xref: SCTID:266275004 {source="DOID:1287"}
xref: SCTID:266336005 {source="DOID:1287"}
xref: SCTID:49601007 {source="DOID:1287", source="MONDO:equivalentTo", source="EFO:0000319"}
xref: UMLS:C0007222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2848"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system

[Term]
id: MONDO:0004996
name: childhood acute myeloid leukemia
def: "Acute myeloid leukemia occurring in childhood." [NCIT:C9160]
subset: gard_rare {source="GARD:8199", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute myeloid leukaemia (AML)" BROAD OMO:0003005 []
synonym: "acute myeloid leukaemia of childhood" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia (AML)" BROAD [NCIT:C9160]
synonym: "acute myeloid leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood acute granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "childhood acute granulocytic leukemia" EXACT [NCIT:C9160]
synonym: "childhood acute myeloblastic leukaemia" EXACT OMO:0003005 []
synonym: "childhood acute myeloblastic leukemia" EXACT [NCIT:C9160]
synonym: "childhood acute myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "childhood acute myelocytic leukemia" EXACT [NCIT:C9160]
synonym: "childhood acute myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "childhood acute myelogenous leukemia" EXACT [NCIT:C9160]
synonym: "childhood acute myeloid leukemia" EXACT [DOID:0070323, NCIT:C9160]
synonym: "childhood AML" EXACT [NCIT:C9160]
synonym: "paediatric acute myeloblastic leukaemia" EXACT OMO:0003005 []
synonym: "paediatric acute myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "paediatric acute myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "paediatric acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "paediatric AML" EXACT OMO:0003005 []
synonym: "pediatric acute myeloblastic leukemia" EXACT [NCIT:C9160]
synonym: "pediatric acute myelocytic leukemia" EXACT [NCIT:C9160]
synonym: "pediatric acute myelogenous leukemia" EXACT [NCIT:C9160]
synonym: "pediatric acute myeloid leukemia" EXACT [DOID:0070323, MONDO:patterns/childhood, NCIT:C9160]
synonym: "pediatric AML" EXACT [NCIT:C9160]
xref: DOID:0070323 {source="MONDO:equivalentTo"}
xref: EFO:0000330 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8199 {source="MONDO:GARD"}
xref: ICDO:M9861/3 {source="DOID:0070323"}
xref: MEDGEN:65075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9160 {source="EFO:0000330", source="MONDO:equivalentTo", source="DOID:0070323"}
xref: UMLS:C0220621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65075"}
is_a: MONDO:0004355 {source="DOID:0070323", source="MONDO:Redundant", source="NCIT:C9160"} ! childhood leukemia
intersection_of: MONDO:0018874 ! acute myeloid leukemia
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0000330", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0004997
name: chondroblastoma
def: "A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes." [NCIT:P378]
subset: gard_rare {source="GARD:6047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHBL" RELATED ABBREVIATION [ONCOTREE:CHBL]
synonym: "chondroblastoma" EXACT [MONDO:ambiguous, NCIT:C2945]
synonym: "chondroblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "chondroblastoma of bone" EXACT [DOID:2649]
xref: DOID:2649 {source="EFO:0000331", source="MONDO:equivalentTo"}
xref: EFO:0000331 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6047 {source="MONDO:GARD"}
xref: HP:0030432 {source="MONDO:otherHierarchy"}
xref: ICDO:9230/0 {source="NCIT:C2945"}
xref: MEDGEN:40270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002804 {source="EFO:0000331", source="MONDO:equivalentTo", source="DOID:2649"}
xref: NANDO:2200051 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2945 {source="EFO:0000331", source="MONDO:equivalentTo", source="DOID:2649"}
xref: ONCOTREE:CHBL {source="MONDO:equivalentTo"}
xref: SCTID:134337007 {source="DOID:2649"}
xref: SCTID:189887007 {source="DOID:2649"}
xref: SCTID:9001003 {source="EFO:0000331", source="DOID:2649"}
xref: UMLS:C0008441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40270"}
is_a: MONDO:0000631 {source="NCIT:C2945"} ! bone benign neoplasm
is_a: MONDO:0024470 {source="NCIT:C2945"} ! benign chondrogenic neoplasm
property_value: IAO:0000589 "chondroblastoma (disease)" xsd:string

[Term]
id: MONDO:0004998
name: obsolete chondromyxoid fibroma
is_obsolete: true
replaced_by: MONDO:0018447

[Term]
id: MONDO:0004999
name: obsolete chondrosarcoma
is_obsolete: true
replaced_by: MONDO:0008977

[Term]
id: MONDO:0005000
name: obsolete chromophobe renal cell carcinoma
is_obsolete: true
replaced_by: MONDO:0017885

[Term]
id: MONDO:0005001
name: chronic gastritis
def: "Inflammation of the stomach that is chronic in nature." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic gastritis" EXACT [MONDO:ambiguous]
synonym: "chronic gastritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "gastritis (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: EFO:0000337 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0005231 {source="MONDO:otherHierarchy"}
xref: ICD9:535.4 {source="EFO:0000337"}
xref: ICD9:535.40 {source="EFO:0000337"}
xref: ICD9:535.41 {source="EFO:0000337"}
xref: MEDGEN:39089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005756 {source="EFO:0000337"}
xref: NCIT:C26929 {source="MONDO:equivalentTo", source="EFO:0000337"}
xref: SCTID:8493009 {source="MONDO:equivalentTo", source="EFO:0000337"}
xref: UMLS:C0085695 {source="MEDGEN:39089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004966 {source="EFO:0000337", source="MONDO:Redundant", source="NCIT:C26929"} ! gastritis
intersection_of: MONDO:0004966 ! gastritis
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: disease_has_location UBERON:0000945 {source="EFO:0000784"} ! stomach
property_value: IAO:0000589 "chronic gastritis (disease)" xsd:string

[Term]
id: MONDO:0005002
name: chronic obstructive pulmonary disease
def: "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." [NCIT:C3199]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic obstructive airway disease" EXACT [DOID:3083]
synonym: "chronic obstructive airways disease" EXACT [NCIT:C3199]
synonym: "chronic obstructive lung disease" EXACT [DOID:3083]
synonym: "chronic obstructive pulmonary disease (COPD)" EXACT [NCIT:C3199]
synonym: "chronic obstructive pulmonary disease, (COPD)" EXACT [NCIT:C3199]
synonym: "cold" EXACT [NCIT:C3199]
synonym: "cold (chronic obstructive lung disease)" EXACT [DOID:3083]
synonym: "COPD" EXACT ABBREVIATION [DOID:3083, NCIT:C3199]
synonym: "COPD, chronic obstructive pulmonary disease" EXACT [NCIT:C3199]
synonym: "disease (COPD), chronic obstructive" EXACT [NCIT:C3199]
synonym: "obstructive lung disease, chronic" EXACT [MONDO:patterns/chronic]
synonym: "obstructive pulmonary disease (COPD), chronic" EXACT [NCIT:C3199]
synonym: "pulmonary disease (COPD), chronic obstructive" EXACT [NCIT:C3199]
xref: DOID:3083 {source="EFO:0000341", source="MONDO:equivalentTo"}
xref: EFO:0000341 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J44.9 {source="DOID:3083"}
xref: ICD9:490-496.99 {source="EFO:0000341"}
xref: ICD9:496 {source="EFO:0000341", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D029424 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083"}
xref: NCIT:C3199 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083"}
xref: OMIM:606963 {source="MONDO:equivalentTo"}
xref: SCTID:13645005 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083"}
xref: SCTID:155565006 {source="DOID:3083"}
xref: SCTID:155569000 {source="DOID:3083"}
xref: SCTID:155585005 {source="DOID:3083"}
xref: SCTID:155617000 {source="DOID:3083"}
xref: SCTID:195935004 {source="DOID:3083"}
xref: SCTID:195948000 {source="DOID:3083"}
xref: SCTID:196003006 {source="DOID:3083"}
xref: SCTID:413846005 {source="EFO:0000341", source="DOID:3083"}
xref: SCTID:84162001 {source="EFO:0000341"}
xref: UMLS:C0024117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9818"}
is_a: MONDO:0002267 {source="DOID:3083", source="MESH:D029424", source="MONDO:Redundant"} ! obstructive lung disease
intersection_of: MONDO:0002267 ! obstructive lung disease
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung
relationship: disease_has_location UBERON:0003126 {source="EFO:0000784"} ! trachea

[Term]
id: MONDO:0005003
name: chronic pancreatitis
def: "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "pancreatitis, chronic" EXACT [MONDO:patterns/chronic]
xref: EFO:0000342 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:577.1 {source="EFO:0000342", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050500 {source="EFO:0000342", source="MONDO:equivalentTo"}
xref: NCIT:C84637 {source="EFO:0000342", source="MONDO:equivalentTo"}
xref: SCTID:235494005 {source="EFO:0000342", source="MONDO:equivalentTo"}
xref: UMLS:C0149521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101753"}
is_a: MONDO:0004982 {source="EFO:0000342", source="MESH:D050500", source="MONDO:Redundant", source="NCIT:C84637"} ! pancreatitis
intersection_of: MONDO:0004982 ! pancreatitis
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: disease_has_location UBERON:0001264 {source="EFO:0000784"} ! pancreas

[Term]
id: MONDO:0005004
name: clear cell adenocarcinoma
def: "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma, clear cell, malignant" EXACT [NCIT:C3766]
synonym: "clear cell adenocarcinoma" EXACT [NCIT:C3766]
synonym: "clear cell adenocarcinoma (morphologic abnormality)" EXACT [DOID:4468]
synonym: "clear cell adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:4468]
synonym: "clear cell carcinoma" RELATED [NCIT:C3766]
synonym: "malignant mesonephroma" RELATED [DOID:4468, NCIT:C4072]
synonym: "mesonephroid clear cell adenocarcinoma" RELATED [NCIT:C3766]
synonym: "mesonephroid clear cell carcinoma" RELATED [DOID:4468, NCIT:C3766]
synonym: "mesonephroma" RELATED EXCLUDE [DOID:4468]
synonym: "mesonephroma NOS (morphologic abnormality)" EXACT [DOID:4468]
synonym: "mesonephroma, malignant" RELATED [DOID:4468]
synonym: "mesonephroma, malignant (morphologic abnormality)" RELATED [DOID:4468]
synonym: "water-clear cell adenocarcinoma" EXACT [DOID:4468, NCIT:C4156]
synonym: "water-clear cell adenocarcinoma (morphologic abnormality)" EXACT [DOID:4468]
synonym: "water-clear cell carcinoma" RELATED [DOID:4468]
synonym: "Wolffian duct neoplasm" RELATED [DOID:4468]
xref: DOID:4468 {source="MONDO:equivalentTo", source="EFO:0000348"}
xref: EFO:0000348 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8310/3 {source="NCIT:C3766"}
xref: MEDGEN:64629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008649 {source="DOID:4468"}
xref: MESH:D018262 {source="DOID:4468", source="MONDO:equivalentTo", source="EFO:0000348"}
xref: NCIT:C36815 {source="DOID:4468", source="MONDO:otherHierarchy"}
xref: NCIT:C3766 {source="DOID:4468", source="MONDO:equivalentTo", source="EFO:0000348"}
xref: NCIT:C4072 {source="DOID:4468", source="MONDO:directSiblingOf"}
xref: NCIT:C4156 {source="DOID:4468"}
xref: SCTID:189633003 {source="DOID:4468"}
xref: SCTID:189861007 {source="DOID:4468"}
xref: SCTID:2221008 {source="DOID:4468"}
xref: SCTID:30546008 {source="DOID:4468", source="EFO:0000348"}
xref: SCTID:80727009 {source="DOID:4468"}
xref: UMLS:C0206681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64629"}
is_a: MONDO:0004970 {source="DOID:4468", source="EFO:0000348", source="MESH:D018262", source="NCIT:C3766"} ! adenocarcinoma

[Term]
id: MONDO:0005005
name: clear cell renal carcinoma
def: "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." [NCIT:C4033]
subset: gard_rare {source="GARD:9574", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319276"}
subset: orphanet_rare {source="Orphanet:319276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "clear cell adenocarcinoma of kidney" EXACT [NCIT:C4033]
synonym: "clear cell adenocarcinoma of the kidney" EXACT [NCIT:C4033]
synonym: "clear cell adenocarcinoma, kidney" EXACT [NCIT:C4033]
synonym: "clear cell carcinoma of kidney" EXACT [NCIT:C4033]
synonym: "clear cell carcinoma of the kidney" EXACT [NCIT:C4033]
synonym: "clear cell kidney carcinoma" EXACT [DOID:4467]
synonym: "clear cell renal cell cancer" EXACT [NCIT:C4033]
synonym: "clear cell renal cell carcinoma" EXACT [NCIT:C4033]
synonym: "clear-cell metastatic renal cell carcinoma" RELATED [DOID:4467, MESH:C538445]
synonym: "conventional (clear cell) renal cell adenocarcinoma" EXACT [NCIT:C4033]
synonym: "conventional (clear cell) renal cell carcinoma" EXACT [DOID:4467, MTH:NOCODE, NCIT:C4033]
synonym: "conventional renal cell carcinoma" EXACT [DOID:4467, NCIT:C4033]
synonym: "Grawitz tumor" EXACT DEPRECATED [NCIT:C4033]
synonym: "Grawitz tumour" EXACT OMO:0003005 []
synonym: "hypernephroma" RELATED DEPRECATED [NCIT:C4033]
synonym: "kidney clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4033]
synonym: "kidney clear cell carcinoma" EXACT [NCIT:C4033]
synonym: "RCC, clear cell adenocarcinoma" EXACT [NCIT:C4033]
synonym: "renal cell carcinoma, clear cell adenocarcinoma" EXACT [NCIT:C4033]
synonym: "renal clear cell adenocarcinoma" EXACT [NCIT:C4033]
synonym: "renal clear cell carcinoma" EXACT [NCIT:C4033]
xref: DOID:4467 {source="MONDO:equivalentTo", source="EFO:0000349"}
xref: EFO:0000349 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9574 {source="MONDO:GARD"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:76018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002292 {source="DOID:4467"}
xref: NCIT:C4033 {source="DOID:4467", source="MONDO:equivalentTo", source="EFO:0000349"}
xref: ONCOTREE:CCRCC {source="MONDO:equivalentTo"}
xref: Orphanet:319276 {source="MONDO:equivalentTo"}
xref: SCTID:188251003 {source="DOID:4467", source="EFO:0000349"}
xref: SCTID:254915003 {source="DOID:4467", source="MONDO:equivalentTo", source="EFO:0000349"}
xref: SCTID:41607009 {source="DOID:4467"}
xref: UMLS:C0279702 {source="MEDGEN:76018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005004 {source="MONDO:Redundant", source="NCIT:C4033"} ! clear cell adenocarcinoma
is_a: MONDO:0005549 {source="NCIT:C4033"} ! renal cell adenocarcinoma
is_a: MONDO:0007763 ! nonpapillary renal cell carcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0005006
name: clear cell sarcoma of kidney
def: "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue." [NCIT:C4264]
subset: gard_rare {source="GARD:21905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457246"}
subset: orphanet_rare {source="Orphanet:457246"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCSK" EXACT ABBREVIATION [NCIT:C4264, ONCOTREE:CCSK, Orphanet:457246]
synonym: "childhood clear cell sarcoma of the kidney" EXACT [NCIT:C4264]
synonym: "childhood kidney clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264]
synonym: "childhood renal clear cell sarcoma" EXACT [NCIT:C4264]
synonym: "clear cell sarcoma - kidney" EXACT [NCIT:C4264]
synonym: "clear cell sarcoma of kidney" EXACT [DOID:4880, MONDO:0018707, NCIT:C4264]
synonym: "clear cell sarcoma of the kidney" EXACT [NCIT:C4264]
synonym: "kidney clear cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C4264]
synonym: "paediatric kidney clear cell sarcoma" EXACT OMO:0003005 []
synonym: "paediatric renal clear cell sarcoma" EXACT OMO:0003005 []
synonym: "pediatric kidney clear cell sarcoma" EXACT [NCIT:C4264]
synonym: "pediatric renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264, NCIT:C6564]
synonym: "renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264]
xref: DOID:4880 {source="EFO:0000350", source="MONDO:equivalentTo"}
xref: EFO:0000350 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21905 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:457246", source="Orphanet:457246/index", source="Orphanet:457246/ntbt"}
xref: ICDO:8964/3 {source="NCIT:C4264"}
xref: MEDGEN:90791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200044 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4264 {source="EFO:0000350", source="MONDO:equivalentTo", source="DOID:4880"}
xref: ONCOTREE:CCSK {source="MONDO:equivalentTo"}
xref: Orphanet:457246 {source="MONDO:equivalentTo"}
xref: SCTID:189813000 {source="DOID:4880"}
xref: SCTID:24007003 {source="EFO:0000350", source="DOID:4880"}
xref: UMLS:C0334488 {source="MEDGEN:90791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002926 {source="DOID:4880", source="MONDO:Redundant"} ! clear cell sarcoma
is_a: MONDO:0002930 {source="DOID:4880", source="MONDO:Redundant", source="NCIT:C4264"} ! kidney sarcoma
is_a: MONDO:0021163 {source="MONDO:Redundant", source="Orphanet:457246"} ! kidney neoplasm
intersection_of: MONDO:0002926 ! clear cell sarcoma
intersection_of: disease_has_location UBERON:0002113 ! kidney
relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney
relationship: excluded_subClassOf MONDO:0015963 {source="Orphanet:457246", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited renal tumor
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare

[Term]
id: MONDO:0005007
name: colon mucinous adenocarcinoma
def: "An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." [NCIT:C7966]
subset: otar {source="MONDO:OTAR"}
synonym: "colloid adenocarcinoma of colon" EXACT [NCIT:C7966]
synonym: "colloid adenocarcinoma of the colon" EXACT [NCIT:C7966]
synonym: "colloid colon adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colloidal adenocarcinoma of colon" EXACT [NCIT:C7966]
synonym: "colloidal adenocarcinoma of the colon" EXACT [NCIT:C7966]
synonym: "colloidal colon adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colon colloid adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colon colloidal adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colon mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C7966]
synonym: "colonic colloid adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colonic colloidal adenocarcinoma" EXACT [NCIT:C7966]
synonym: "colonic mucinous adenocarcinoma" EXACT [DOID:3029, NCIT:C7966]
synonym: "mucinous adenocarcinoma of colon" EXACT [NCIT:C7966]
synonym: "mucinous adenocarcinoma of the colon" EXACT [NCIT:C7966]
synonym: "mucinous colon adenocarcinoma" EXACT [NCIT:C7966]
xref: DOID:3029 {source="EFO:0000364", source="MONDO:equivalentTo"}
xref: EFO:0000364 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7966 {source="EFO:0000364", source="DOID:3029", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0279639 {source="MEDGEN:76007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002271 {source="DOID:3029", source="MONDO:Redundant", source="NCIT:C7966"} ! colon adenocarcinoma
is_a: MONDO:0004957 {source="DOID:3029", source="MONDO:Redundant", source="NCIT:C7966/inferred"} ! mucinous adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon
relationship: disease_has_location UBERON:0001155 {source="EFO:0000784"} ! colon

[Term]
id: MONDO:0005008
name: colorectal adenocarcinoma
def: "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [NCIT:C5105]
comment: Editor note: we follow NCIT in treating colorectal and large intestine as equivalent
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of large bowel" EXACT [NCIT:C5105]
synonym: "adenocarcinoma of large intestine" EXACT [NCIT:C5105]
synonym: "adenocarcinoma of the large bowel" EXACT [NCIT:C5105]
synonym: "adenocarcinoma of the large intestine" EXACT [NCIT:C5105]
synonym: "colorectal (colon or rectal) adenocarcinoma" EXACT [NCIT:C5105]
synonym: "colorectal adenocarcinoma" EXACT [NCIT:C5105]
synonym: "colorectum adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "large bowel adenocarcinoma" EXACT [NCIT:C5105]
synonym: "large intestine adenocarcinoma" EXACT [NCIT:C5105]
xref: DOID:0050861 {source="EFO:0000365", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0050913 {source="MONDO:equivalentTo"}
xref: EFO:0000365 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:230816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5105 {source="EFO:0000365", source="MONDO:equivalentTo"}
xref: ONCOTREE:COADREAD {source="MONDO:equivalentTo"}
xref: SCTID:269533000 {source="EFO:0000365", source="MONDO:directSiblingOf"}
xref: SCTID:408645001 {source="MONDO:equivalentTo"}
xref: UMLS:C1319315 {source="MEDGEN:230816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:0050913", source="EFO:0000365", source="MONDO:Redundant", source="NCIT:C5105"} ! adenocarcinoma
is_a: MONDO:0005575 {source="DOID:0050861", source="DOID:0050861/inferred", source="DOID:0050913", source="MONDO:0005008/inferred", source="MONDO:Redundant", source="NCIT:C5105", source="NCIT:C5105/inferred"} ! colorectal cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C5105/inferred"} ! digestive system carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0005009
name: congestive heart failure
def: "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." [NCIT:C3080]
subset: otar {source="MONDO:OTAR"}
synonym: "cardiac failure, congestive" EXACT [DOID:6000, NCIT:C3080]
synonym: "CHF" EXACT ABBREVIATION [DOID:6000]
synonym: "congestive heart disease" EXACT [DOID:6000]
synonym: "failure, congestive heart" EXACT [NCIT:C3080]
synonym: "heart failure, congestive" EXACT [NCIT:C3080]
synonym: "weak heart" EXACT [DOID:6000]
xref: DOID:6000 {source="EFO:0000373", source="MONDO:equivalentTo"}
xref: EFO:0000373 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I50 {source="DOID:6000"}
xref: ICD10CM:I50.9 {source="DOID:6000"}
xref: ICD9:404.01 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:404.11 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:404.13 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:428 {source="DOID:6000"}
xref: ICD9:428.0 {source="EFO:0000373", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6000"}
xref: ICD9:428.9 {source="DOID:6000"}
xref: MEDGEN:9169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006333 {source="DOID:6000"}
xref: NCIT:C3080 {source="EFO:0000373", source="MONDO:equivalentTo", source="DOID:6000"}
xref: NCIT:C50577 {source="DOID:6000"}
xref: SCTID:155374007 {source="DOID:6000"}
xref: SCTID:155375008 {source="DOID:6000"}
xref: SCTID:155377000 {source="DOID:6000"}
xref: SCTID:195108009 {source="DOID:6000"}
xref: SCTID:195117009 {source="DOID:6000"}
xref: SCTID:266248006 {source="DOID:6000"}
xref: SCTID:266308000 {source="DOID:6000"}
xref: SCTID:42343007 {source="EFO:0000373", source="MONDO:equivalentTo", source="DOID:6000"}
xref: SCTID:84114007 {source="DOID:6000"}
xref: UMLS:C0018802 {source="MEDGEN:9169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005252 {source="EFO:0000373", source="NCIT:C3080"} ! heart failure
relationship: disease_disrupts GO:0008015 ! blood circulation
relationship: disease_has_feature HP:0002094 ! Dyspnea
relationship: disease_has_major_feature HP:0001635 ! Congestive heart failure

[Term]
id: MONDO:0005010
name: coronary artery disorder
def: "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)" [NCIT:C26732]
subset: otar {source="MONDO:OTAR"}
synonym: "CAD" EXACT ABBREVIATION [NCIT:C26732]
synonym: "CHD" EXACT ABBREVIATION [DOID:3393]
synonym: "CHD (coronary heart disease)" EXACT [DOID:3393]
synonym: "coronary arteriosclerosis" NARROW [DOID:3393]
synonym: "coronary artery disease" EXACT [MONDO:patterns/location, NCIT:C26732]
synonym: "coronary artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "coronary disease" EXACT [DOID:3393, NCIT:C26732]
synonym: "coronary heart disease" EXACT [DOID:3393, MONDO:0000016, NCIT:C26732]
synonym: "disease of coronary artery" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of coronary artery" EXACT []
synonym: "disorder of coronary artery" EXACT [MONDO:patterns/location_top]
xref: DOID:3393 {source="EFO:0000378", source="MONDO:equivalentTo"}
xref: EFO:0001645 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I20-I25 {source="DOID:3393"}
xref: ICD10CM:I25 {source="DOID:3393"}
xref: ICD10CM:I25.1 {source="DOID:3393"}
xref: ICD10CM:I25.10 {source="DOID:3393"}
xref: ICD10CM:I25.9 {source="DOID:3393"}
xref: ICD10CM:K76.1 {source="DOID:3393"}
xref: ICD9:410-414.99 {source="EFO:0001645", source="DOID:3393"}
xref: ICD9:414.0 {source="EFO:0000378", source="DOID:3393"}
xref: ICD9:414.9 {source="DOID:3393"}
xref: MEDGEN:365486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003324 {source="EFO:0000378", source="MONDO:equivalentTo", source="DOID:3393"}
xref: MESH:D003327 {source="EFO:0001645", source="DOID:3393"}
xref: MESH:D017202 {source="DOID:3393", source="MONDO:directSiblingOf"}
xref: NCIT:C26732 {source="EFO:0000378", source="MONDO:equivalentTo", source="EFO:0001645"}
xref: NCIT:C35505 {source="DOID:3393"}
xref: NCIT:C50625 {source="EFO:0001645", source="DOID:3393"}
xref: SCTID:155303000 {source="DOID:3393"}
xref: SCTID:155315001 {source="DOID:3393"}
xref: SCTID:155316000 {source="DOID:3393"}
xref: SCTID:155318004 {source="DOID:3393"}
xref: SCTID:155322009 {source="DOID:3393"}
xref: SCTID:194795001 {source="DOID:3393"}
xref: SCTID:194841001 {source="DOID:3393"}
xref: SCTID:194852007 {source="DOID:3393"}
xref: SCTID:194878003 {source="DOID:3393"}
xref: SCTID:195540001 {source="DOID:3393"}
xref: SCTID:233822007 {source="DOID:3393"}
xref: SCTID:2610009 {source="DOID:3393"}
xref: SCTID:266231003 {source="DOID:3393"}
xref: SCTID:266290000 {source="DOID:3393"}
xref: SCTID:266291001 {source="DOID:3393"}
xref: SCTID:271430002 {source="DOID:3393"}
xref: SCTID:32598000 {source="DOID:3393"}
xref: SCTID:413838009 {source="DOID:3393"}
xref: SCTID:413844008 {source="DOID:3393"}
xref: SCTID:414024009 {source="MONDO:equivalentTo"}
xref: SCTID:414545008 {source="EFO:0001645", source="DOID:3393", source="MONDO:directSiblingOf"}
xref: SCTID:414795007 {source="DOID:3393"}
xref: SCTID:41702007 {source="DOID:3393"}
xref: SCTID:443502000 {source="EFO:0000378", source="DOID:3393"}
xref: SCTID:53741008 {source="EFO:0000378", source="DOID:3393"}
xref: SCTID:84537008 {source="DOID:3393"}
xref: UMLS:C1956346 {source="MEDGEN:365486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="DOID:3393", source="MONDO:Redundant"} ! arterial disorder
is_a: MONDO:0005267 {source="EFO:0000378/inferred", source="MESH:D003324/inferred", source="MONDO:Redundant", source="NCIT:C26732/inferred"} ! heart disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001621 ! coronary artery
relationship: disease_has_location UBERON:0000948 {source="EFO:0000784"} ! heart

[Term]
id: MONDO:0005011
name: Crohn disease
def: "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Crohn disease" EXACT [DOID:8778, MESH:D003424, NCIT:C2965]
synonym: "Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C2965]
synonym: "Crohn's disease of colon" EXACT [DOID:8778]
synonym: "Crohn's disease of large bowel" EXACT [DOID:8778, MTH:NOCODE]
synonym: "granulomatous colitis" EXACT [DOID:8778, NCIT:C37262]
synonym: "paediatric Crohn's disease" EXACT OMO:0003005 []
synonym: "pediatric Crohn's disease" EXACT [DOID:8778, MESH:C536215]
synonym: "regional enteritis" EXACT [NCIT:C2965]
xref: DOID:8778 {source="EFO:0000384", source="MONDO:equivalentTo"}
xref: EFO:0000384 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K50.1 {source="DOID:8778"}
xref: ICD9:555.1 {source="DOID:8778", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003424 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:8778", source="EFO:0000384", source="MONDO:equivalentTo"}
xref: NANDO:1200444 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200446 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200921 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27837 {source="EFO:0000384"}
xref: NCIT:C2965 {source="EFO:0000384", source="MONDO:equivalentTo"}
xref: NCIT:C35211 {source="DOID:8778"}
xref: NCIT:C37262 {source="DOID:8778"}
xref: Orphanet:206 {source="MONDO:equivalentObsolete"}
xref: SCTID:155762006 {source="DOID:8778"}
xref: SCTID:196981009 {source="DOID:8778"}
xref: SCTID:196982002 {source="DOID:8778"}
xref: SCTID:266446008 {source="DOID:8778"}
xref: SCTID:34000006 {source="EFO:0000384", source="MONDO:directSiblingOf"}
xref: SCTID:50440006 {source="DOID:8778"}
xref: SCTID:7620006 {source="DOID:8778", source="MONDO:equivalentTo"}
xref: UMLS:C0010346 {source="MONDO:equivalentTo", source="MEDGEN:3664", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DOID:8778", source="EFO:0000384", source="NCIT:C2965"} ! inflammatory bowel disease
relationship: disease_has_feature HP:0000230 {source="MONDO:Wikidata"} ! Gingivitis
relationship: disease_has_feature HP:0002019 {source="MONDO:Wikidata"} ! Constipation
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature HP:0011107 {source="MONDO:Wikidata"} ! Recurrent aphthous stomatitis
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_feature MONDO:0002203 {source="MONDO:Wikidata"} ! constipation disorder
relationship: disease_has_feature MONDO:0002508 {source="MONDO:Wikidata"} ! gingivitis

[Term]
id: MONDO:0005012
name: cutaneous melanoma
def: "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." [NCIT:C3510]
subset: otar {source="MONDO:OTAR"}
synonym: "cutaneous (skin) melanoma" EXACT [NCIT:C3510]
synonym: "cutaneous melanoma" EXACT [DOID:8923, MONDO:ambiguous, NCIT:C3510]
synonym: "cutaneous melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "malignant cutaneous melanoma" EXACT [NCIT:C3510]
synonym: "malignant ear melanoma" EXACT [DOID:8923]
synonym: "malignant lip melanoma" EXACT [DOID:8923]
synonym: "malignant lower limb melanoma" EXACT [DOID:8923]
synonym: "malignant melanoma (of skin), stage unspecified" EXACT [NCIT:C3510]
synonym: "malignant melanoma of ear and/or external auricular canal" EXACT [DOID:8923]
synonym: "malignant melanoma of skin" EXACT [NCIT:C3510]
synonym: "malignant melanoma of skin of lower limb" EXACT [DOID:8923]
synonym: "malignant melanoma of skin of trunk except scrotum" EXACT [DOID:8923]
synonym: "malignant melanoma of skin of upper limb" EXACT [DOID:8923]
synonym: "malignant melanoma of skin stage unspecified" EXACT [NCIT:C3510]
synonym: "malignant neck melanoma" EXACT [DOID:8923]
synonym: "malignant scalp melanoma" EXACT [DOID:8923]
synonym: "malignant trunk melanoma" EXACT [DOID:8923]
synonym: "malignant upper limb melanoma" EXACT [DOID:8923]
synonym: "melanoma (disease) of zone of skin" EXACT []
synonym: "melanoma of skin" EXACT [NCIT:C3510]
synonym: "melanoma of the skin" EXACT [NCIT:C3510]
synonym: "skin melanoma" EXACT [NCIT:C3510]
synonym: "skin, melanoma" EXACT [NCIT:C3510]
synonym: "zone of skin melanoma" EXACT []
synonym: "zone of skin melanoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:8923 {source="EFO:0000389", source="MONDO:equivalentTo"}
xref: EFO:0000389 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0012056 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C43 {source="DOID:8923"}
xref: ICD10CM:C43.0 {source="DOID:8923"}
xref: ICD10CM:C43.2 {source="DOID:8923"}
xref: ICD10CM:C43.4 {source="DOID:8923"}
xref: ICD10CM:C43.9 {source="DOID:8923"}
xref: ICD9:172 {source="DOID:8923", source="EFO:0000389"}
xref: ICD9:172.0 {source="DOID:8923"}
xref: ICD9:172.2 {source="DOID:8923"}
xref: ICD9:172.3 {source="EFO:0000389"}
xref: ICD9:172.4 {source="DOID:8923"}
xref: ICD9:172.5 {source="DOID:8923"}
xref: ICD9:172.8 {source="EFO:0000389"}
xref: ICD9:172.9 {source="DOID:8923", source="EFO:0000389"}
xref: MEDGEN:57486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562393 {source="DOID:8923"}
xref: NCIT:C3510 {source="DOID:8923", source="EFO:0000389", source="MONDO:equivalentTo"}
xref: ONCOTREE:SKCM {source="MONDO:equivalentTo"}
xref: SCTID:154501005 {source="DOID:8923"}
xref: SCTID:154506000 {source="DOID:8923"}
xref: SCTID:188030005 {source="DOID:8923"}
xref: SCTID:188032002 {source="DOID:8923"}
xref: SCTID:188035000 {source="DOID:8923"}
xref: SCTID:188044004 {source="DOID:8923"}
xref: SCTID:188047006 {source="DOID:8923"}
xref: SCTID:188082007 {source="DOID:8923"}
xref: SCTID:190105009 {source="DOID:8923"}
xref: SCTID:269577007 {source="DOID:8923"}
xref: SCTID:93640008 {source="DOID:8923"}
xref: SCTID:93641007 {source="DOID:8923"}
xref: SCTID:93653006 {source="DOID:8923"}
xref: SCTID:93655004 {source="DOID:8923", source="EFO:0000389", source="MONDO:equivalentTo"}
xref: UMLS:C0151779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57486"}
is_a: MONDO:0002898 {source="DOID:8923", source="NCIT:C3510"} ! skin cancer
is_a: MONDO:0005105 {source="DOID:8923", source="EFO:0000389", source="MONDO:Redundant", source="NCIT:C3510", source="ONCOTREE:SKCM"} ! melanoma
is_a: MONDO:0021583 {source="MONDO:Redundant", source="NCIT:C3510"} ! melanocytic skin neoplasm
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
disjoint_from: MONDO:0006320 ! non-cutaneous melanoma
property_value: IAO:0000589 "cutaneous melanoma (disease)" xsd:string

[Term]
id: MONDO:0005013
name: dedifferentiated chondrosarcoma
def: "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." [NCIT:C6476]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DDCHS" RELATED ABBREVIATION [ONCOTREE:DDCHS]
synonym: "Dedifferentiated chondrosarcoma" EXACT [NCIT:C6476]
xref: DOID:0081247 {source="MONDO:equivalentTo"}
xref: EFO:0000394 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9243/3 {source="NCIT:C6476"}
xref: MEDGEN:209021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6476 {source="EFO:0000394", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:DDCHS {source="MONDO:equivalentTo"}
xref: SCTID:128776008 {source="EFO:0000394"}
xref: UMLS:C0862878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209021"}
is_a: MONDO:0005089 {source="EFO:0000394", source="MONDO:Redundant", source="NCIT:C6476/inferred"} ! sarcoma
is_a: MONDO:0008977 {source="NCIT:C6476", source="ONCOTREE:DDCHS"} ! chondrosarcoma
is_a: MONDO:0021054 {source="NCIT:C6476"} ! bone sarcoma

[Term]
id: MONDO:0005014
name: obsolete dermatomyositis
def: "OBSOLETE. Inflammation of the skin and muscle." [NCIT:C26744]
is_obsolete: true
replaced_by: MONDO:0016367

[Term]
id: MONDO:0005015
name: diabetes mellitus
def: "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "diabetes" EXACT [NCIT:C2985]
synonym: "diabetes mellitus" EXACT [MONDO:ambiguous, NCIT:C2985]
synonym: "diabetes mellitus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "DM" EXACT ABBREVIATION [NCIT:C2985]
xref: DOID:9351 {source="EFO:0000400", source="MONDO:equivalentTo"}
xref: EFO:0000400 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000819 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E08-E13 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:9351", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:E11 {source="DOID:9351"}
xref: ICD9:250 {source="EFO:0000400", source="DOID:9351"}
xref: MEDGEN:8350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003920 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"}
xref: NANDO:2100157 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100158 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2985 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"}
xref: SCTID:154671004 {source="DOID:9351"}
xref: SCTID:191044006 {source="DOID:9351"}
xref: SCTID:267467004 {source="DOID:9351"}
xref: SCTID:73211009 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"}
xref: UMLS:C0011849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8350"}
is_a: MONDO:0001933 {source="NCIT:C2985"} ! endocrine pancreas disorder
is_a: MONDO:0002908 {source="DOID:9351", source="MESH:D003920", source="NCIT:C2985"} ! glucose metabolism disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: IAO:0000589 "diabetes mellitus (disease)" xsd:string

[Term]
id: MONDO:0005016
name: diabetic kidney disease
def: "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." [NCIT:C84417]
subset: otar {source="MONDO:OTAR"}
synonym: "diabetic nephropathy" EXACT [NCIT:C84417]
synonym: "DKD" EXACT ABBREVIATION [NCIT:C84417]
synonym: "type 1 diabetes nephropathy" NARROW [MONDO:0005442]
synonym: "type 2 diabetes nephropathy" NARROW [MONDO:0005443]
xref: DOID:11503 {source="MONDO:relatedTo", source="EFO:0000401"}
xref: EFO:0000401 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="MONDO:EFO"}
xref: ICD9:250.4 {source="EFO:0000401"}
xref: ICD9:250.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:583.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003928 {source="MONDO:equivalentTo", source="EFO:0000401"}
xref: NCIT:C84417 {source="MONDO:equivalentTo", source="EFO:0000401"}
xref: SCTID:127013003 {source="MONDO:equivalentTo", source="EFO:0000401"}
xref: SCTID:197605007 {source="EFO:0000401"}
xref: SCTID:230576004 {source="EFO:0000401"}
xref: SCTID:230577008 {source="EFO:0000401"}
xref: SCTID:311366001 {source="EFO:0000401"}
xref: SCTID:38542009 {source="EFO:0000401"}
xref: SCTID:39058009 {source="EFO:0000401"}
xref: SCTID:39127005 {source="EFO:0000401"}
xref: SCTID:49455004 {source="EFO:0000401"}
xref: SCTID:50620007 {source="MONDO:relatedTo", source="EFO:0000401"}
xref: SCTID:54181000 {source="EFO:0000401"}
xref: SCTID:707221002 {source="EFO:0000401"}
xref: SCTID:81830002 {source="EFO:0000401"}
xref: UMLS:C0011881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8352"}
is_a: MONDO:0005066 {source="EFO:0000401", source="MESH:D003928/inferred"} ! metabolic disease
is_a: MONDO:0005240 {source="MESH:D003928", source="MONDO:Redundant", source="NCIT:C84417/inferred"} ! kidney disorder
is_a: MONDO:0005300 {source="NCIT:C84417"} ! chronic kidney disease
relationship: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus
relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney

[Term]
id: MONDO:0005017
name: diffuse gastric adenocarcinoma
def: "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration." [NCIT:C9159]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of linitis plastica type" EXACT [DOID:6217, NCIT:C9159]
synonym: "adenocarcinoma of the linitis plastica type" EXACT [NCIT:C9159]
synonym: "carcinoma, diffuse type" EXACT [DOID:6217]
synonym: "carcinoma, diffuse type (morphologic abnormality)" EXACT [DOID:6217]
synonym: "diffuse adenocarcinoma of stomach" EXACT [NCIT:C9159]
synonym: "diffuse adenocarcinoma of the stomach" EXACT [NCIT:C9159]
synonym: "diffuse gastric adenocarcinoma" EXACT [NCIT:C9159]
synonym: "diffuse stomach adenocarcinoma" EXACT [NCIT:C9159]
synonym: "diffuse type adenocarcinoma" RELATED EXCLUDE [DOID:6217]
synonym: "diffuse type carcinoma" RELATED EXCLUDE [DOID:6217]
synonym: "diffuse type stomach adenocarcinoma" RELATED [ONCOTREE:DSTAD]
synonym: "gastric diffuse adenocarcinoma" EXACT [MONDO:0003814]
synonym: "stomach diffuse type adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6217 {source="MONDO:equivalentTo"}
xref: EFO:0000402 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4127 {source="DOID:6217"}
xref: NCIT:C9159 {source="DOID:6217", source="MONDO:equivalentTo", source="EFO:0000402"}
xref: ONCOTREE:DSTAD {source="MONDO:equivalentTo"}
xref: SCTID:24505004 {source="DOID:6217"}
xref: UMLS:C0279635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79019"}
is_a: MONDO:0004970 {source="DOID:6217/inferred", source="EFO:0000402", source="MONDO:0005017/inferred", source="MONDO:Redundant", source="NCIT:C4127", source="NCIT:C9159/inferred"} ! adenocarcinoma
is_a: MONDO:0005036 {source="DOID:6217", source="MONDO:Redundant", source="NCIT:C9159", source="ONCOTREE:DSTAD"} ! gastric adenocarcinoma
is_a: MONDO:0021652 {source="MONDO:Redundant", source="NCIT:C9159"} ! diffuse type adenocarcinoma
intersection_of: MONDO:0021652 ! diffuse type adenocarcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: disease_has_feature MONDO:0018184 ! gastric linitis plastica

[Term]
id: MONDO:0005018
name: obsolete diffuse large B-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0018905

[Term]
id: MONDO:0005019
name: diffuse scleroderma
def: "A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement." [NCIT:P378]
subset: gard_rare {source="GARD:7727", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse systemic sclerosis" EXACT [DOID:1580]
synonym: "systemic sclerosis, diffuse" EXACT [DOID:1580]
xref: DOID:1580 {source="MONDO:equivalentTo", source="EFO:0000404"}
xref: EFO:0000404 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7727 {source="MONDO:GARD"}
xref: MEDGEN:219839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045743 {source="MONDO:equivalentTo", source="EFO:0000404", source="DOID:1580"}
xref: NCIT:C116791 {source="EFO:0000404", source="MONDO:directSiblingOf", source="DOID:1580"}
xref: SCTID:128460000 {source="EFO:0000404", source="DOID:1580"}
xref: SCTID:444133002 {source="EFO:0000404", source="DOID:1580"}
xref: UMLS:C1258104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:219839"}
is_a: MONDO:0005100 {source="DOID:1580", source="MESH:D045743"} ! systemic sclerosis

[Term]
id: MONDO:0005020
name: intestinal disorder
def: "A non-neoplastic or neoplastic disorder that affects the small or large intestine." [NCIT:C26801]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of intestine" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of intestine" EXACT []
synonym: "disease, intestinal" RELATED [MESH:D007410]
synonym: "diseases, intestinal" RELATED [MESH:D007410]
synonym: "disorder of intestine" EXACT [MONDO:patterns/location_top]
synonym: "intestinal disease" EXACT [MESH:D007410]
synonym: "intestinal disorder" EXACT [NCIT:C26801]
synonym: "intestine disease" EXACT [MONDO:patterns/location]
synonym: "intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:5295 {source="MONDO:equivalentTo", source="EFO:0000405"}
xref: EFO:0009431 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K55-K64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K63.9 {source="DOID:5295"}
xref: ICD9:520-579.99 {source="EFO:0000405"}
xref: ICD9:560-569.99 {source="EFO:0000405"}
xref: ICD9:564 {source="EFO:0000405"}
xref: ICD9:564.4 {source="EFO:0000405"}
xref: ICD9:569 {source="EFO:0000405"}
xref: ICD9:569.4 {source="EFO:0000405"}
xref: ICD9:569.49 {source="EFO:0000405"}
xref: ICD9:569.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:569.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5295"}
xref: ICD9:570-579.99 {source="EFO:0000405"}
xref: ICD9:575 {source="EFO:0000405"}
xref: MEDGEN:7130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004066 {source="EFO:0000405"}
xref: MESH:D005767 {source="EFO:0000405"}
xref: MESH:D007410 {source="MONDO:equivalentTo", source="DOID:5295", source="EFO:0000405"}
xref: NCIT:C26801 {source="MONDO:equivalentTo", source="DOID:5295"}
xref: SCTID:155629009 {source="DOID:5295"}
xref: SCTID:197266001 {source="DOID:5295"}
xref: SCTID:266483008 {source="DOID:5295"}
xref: SCTID:53619000 {source="EFO:0000405"}
xref: SCTID:85919009 {source="MONDO:equivalentTo", source="DOID:5295"}
xref: UMLS:C0021831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7130"}
is_a: MONDO:0004335 {source="DOID:5295", source="MESH:D007410", source="MONDO:Redundant", source="NCIT:C26801"} ! digestive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0005021
name: dilated cardiomyopathy
def: "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:217604"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congestive cardiomyopathy" RELATED [DOID:12930]
synonym: "dilated cardiomyopathy" EXACT CLINGEN_LABEL []
synonym: "familial dilated cardiomyopathy" RELATED [DOID:12930, MESH:C536231]
synonym: "idiopathic dilation cardiomyopathy" RELATED [DOID:12930, MESH:C536277]
synonym: "primary dilated cardiomyopathy" RELATED [DOID:12930]
xref: DOID:12930 {source="MONDO:equivalentTo", source="EFO:0000407"}
xref: EFO:0000407 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:221 {source="MONDO:GARD"}
xref: HP:0001644 {source="MONDO:otherHierarchy", source="EFO:0000407"}
xref: ICD10CM:I42.0 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e"}
xref: icd11.foundation:1916294688 {source="Orphanet:217604", source="MONDO:equivalentTo"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056370 {source="Orphanet:217604", source="Orphanet:217604/e"}
xref: MEDGEN:2880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002311 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e", source="EFO:0000407"}
xref: NANDO:2100057 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200232 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84673 {source="DOID:12930", source="MONDO:equivalentTo", source="EFO:0000407"}
xref: Orphanet:217604 {source="DOID:12930", source="MONDO:equivalentTo"}
xref: SCTID:195018001 {source="DOID:12930"}
xref: SCTID:195021004 {source="DOID:12930", source="MONDO:equivalentTo"}
xref: SCTID:389995008 {source="DOID:12930"}
xref: SCTID:399020009 {source="DOID:12930", source="EFO:0000407"}
xref: SCTID:74368002 {source="DOID:12930"}
xref: UMLS:C0007193 {source="MEDGEN:2880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000591 {source="DOID:12930", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy
is_a: MONDO:0004994 {source="DOID:12930/inferred", source="EFO:0000407", source="ICD10CM:I42.0", source="MESH:D002311", source="MONDO:Redundant", source="NCIT:C84673", source="Orphanet:217604"} ! cardiomyopathy

[Term]
id: MONDO:0005022
name: obsolete ductal breast adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0005590

[Term]
id: MONDO:0005023
name: ductal breast carcinoma in situ
def: "A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "breast ductal carcinoma in situ" RELATED [ONCOTREE:DCIS]
synonym: "carcinoma in situ of mammary duct" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "DCIS" EXACT ABBREVIATION [NCIT:C2924]
synonym: "ductal breast carcinoma in situ" EXACT [NCIT:C2924]
synonym: "ductal carcinoma in situ" EXACT [NCIT:C2924]
synonym: "ductal carcinoma in situ (DCIS)" EXACT [NCIT:C2924]
synonym: "ductal carcinoma in situ of breast" EXACT [NCIT:C2924]
synonym: "ductal carcinoma in situ of the breast" EXACT [NCIT:C2924]
synonym: "intraductal breast carcinoma" EXACT [NCIT:C2924]
synonym: "intraductal carcinoma" EXACT [NCIT:C2924]
synonym: "intraductal carcinoma of breast" EXACT [NCIT:C2924]
synonym: "intraductal carcinoma of the breast" EXACT [NCIT:C2924]
synonym: "mammary duct carcinoma in situ" EXACT []
synonym: "mammary duct in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "non-infiltrating ductal adenocarcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal adenocarcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal breast adenocarcinoma" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal breast carcinoma" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal carcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating ductal carcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal adenocarcinoma" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal adenocarcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal adenocarcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal breast adenocarcinoma" EXACT [NCIT:C2924]
synonym: "non-infiltrating intraductal carcinoma" EXACT [NCIT:C2924]
synonym: "non-invasive ductal adenocarcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-invasive ductal adenocarcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-invasive ductal breast adenocarcinoma" EXACT [NCIT:C2924]
synonym: "non-invasive ductal breast carcinoma" EXACT [NCIT:C2924]
synonym: "non-invasive ductal carcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-invasive ductal carcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-invasive intraductal adenocarcinoma of breast" EXACT [NCIT:C2924]
synonym: "non-invasive intraductal adenocarcinoma of the breast" EXACT [NCIT:C2924]
synonym: "non-invasive intraductal breast adenocarcinoma" EXACT [NCIT:C2924]
synonym: "stage 0 mammary duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:0060074 {source="MONDO:equivalentTo", source="EFO:0000432"}
xref: EFO:0000432 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:233.0 {source="EFO:0000432"}
xref: ICDO:8500/2 {source="NCIT:C2924"}
xref: MEDGEN:765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002285 {source="MONDO:equivalentTo"}
xref: NCIT:C2924 {source="MONDO:equivalentTo", source="EFO:0000432"}
xref: ONCOTREE:DCIS {source="MONDO:equivalentTo"}
xref: SCTID:189336000 {source="EFO:0000432"}
xref: UMLS:C0007124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:765"}
is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C2924/inferred"} ! adenocarcinoma in situ
is_a: MONDO:0004007 {source="NCIT:C2924"} ! breast intraductal proliferative lesion
is_a: MONDO:0004658 {source="DOID:0060074", source="MONDO:Redundant", source="NCIT:C2924"} ! breast carcinoma in situ
is_a: MONDO:0005590 {source="MONDO:Redundant", source="NCIT:C2924"} ! breast ductal adenocarcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001765 ! mammary duct

[Term]
id: MONDO:0005024
name: obsolete emphysema
is_obsolete: true
replaced_by: MONDO:0004849

[Term]
id: MONDO:0005025
name: endocarditis
def: "Inflammation of the endocardium." [NCIT:C34582]
subset: otar {source="MONDO:OTAR"}
synonym: "endocarditis" EXACT [MONDO:ambiguous]
synonym: "endocarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "endocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of endocardium" EXACT []
xref: DOID:10314 {source="MONDO:equivalentTo", source="EFO:0000465"}
xref: EFO:0000465 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100584 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I33.9 {source="DOID:10314"}
xref: ICD9:421.9 {source="DOID:10314", source="EFO:0000465"}
xref: ICD9:424.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004696 {source="DOID:10314", source="MONDO:equivalentTo", source="EFO:0000465"}
xref: NCIT:C34582 {source="DOID:10314", source="MONDO:equivalentTo", source="EFO:0000465"}
xref: NCIT:C35432 {source="DOID:10314"}
xref: SCTID:194935007 {source="DOID:10314"}
xref: SCTID:56819008 {source="DOID:10314", source="MONDO:equivalentTo", source="EFO:0000465"}
xref: SCTID:91357005 {source="DOID:10314"}
xref: UMLS:C0014118 {source="MONDO:equivalentTo", source="MEDGEN:4940", source="MONDO:MEDGEN"}
is_a: MONDO:0000470 {source="DOID:10314", source="MONDO:Redundant"} ! endocardium disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002165 ! endocardium
relationship: disease_has_location UBERON:0002165 {source="EFO:0000784"} ! endocardium
property_value: IAO:0000589 "endocarditis (disease)" xsd:string

[Term]
id: MONDO:0005026
name: endometrioid adenocarcinoma
def: "An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament." [NCIT:C3769]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrioid adenocarcinoma" EXACT [NCIT:C3769]
synonym: "endometrioid carcinoma" EXACT [NCIT:C3769]
synonym: "endometrioid carcinoma of female reproductive system" EXACT [NCIT:C3769]
synonym: "endometrioid carcinoma of the female reproductive system" EXACT [NCIT:C3769]
synonym: "female reproductive endometrioid carcinoma" EXACT [NCIT:C3769]
xref: EFO:0000466 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8380/3 {source="NCIT:C3769"}
xref: MEDGEN:293976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018269 {source="EFO:0000466"}
xref: NCIT:C3769 {source="EFO:0000466", source="MONDO:equivalentTo"}
xref: SCTID:30289006 {source="EFO:0000466"}
xref: UMLS:C1569637 {source="MEDGEN:293976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001416 {source="NCIT:C3769"} ! female reproductive organ cancer
is_a: MONDO:0002263 {source="MONDO:Redundant", source="NCIT:C3769/inferred"} ! female reproductive system disorder
is_a: MONDO:0004970 {source="MONDO:equivalentTo", source="NCIT:C3769"} ! adenocarcinoma
relationship: disease_has_location UBERON:0000474 {source="EFO:0000784"} ! female reproductive system

[Term]
id: MONDO:0005027
name: epilepsy
def: "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "epilepsy" EXACT CLINGEN_LABEL []
synonym: "epilepsy syndrome" NARROW EXCLUDE [DOID:1826]
synonym: "epileptic syndrome" NARROW EXCLUDE [DOID:1826]
synonym: "seizure disorder" EXACT [NCIT:C3020]
xref: DOID:1826 {source="MONDO:equivalentTo"}
xref: EFO:0000474 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G40 {source="MONDO:equivalentTo"}
xref: ICD10CM:G40-G47 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G40.9 {source="DOID:1826"}
xref: ICD10CM:G40.909 {source="DOID:1826"}
xref: ICD10WHO:G40 {source="MONDO:equivalentTo"}
xref: ICD9:345 {source="EFO:0000474"}
xref: ICD9:345.8 {source="EFO:0000474"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:345.9 {source="EFO:0000474", source="DOID:1826"}
xref: ICD9:345.90 {source="EFO:0000474", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:345.91 {source="EFO:0000474"}
xref: MEDGEN:4506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004827 {source="EFO:0000474", source="MONDO:equivalentTo", source="DOID:1826"}
xref: NCIT:C3020 {source="EFO:0000474", source="MONDO:equivalentTo", source="DOID:1826"}
xref: NIFSTD:birnlex_12718 {source="EFO:0000474"}
xref: SCTID:128613002 {source="DOID:1826"}
xref: SCTID:155036009 {source="DOID:1826"}
xref: SCTID:155045005 {source="DOID:1826"}
xref: SCTID:193026007 {source="DOID:1826"}
xref: SCTID:246545002 {source="DOID:1826"}
xref: SCTID:267593008 {source="DOID:1826"}
xref: SCTID:267698007 {source="DOID:1826"}
xref: SCTID:271788002 {source="DOID:1826"}
xref: SCTID:313307000 {source="DOID:1826"}
xref: SCTID:84757009 {source="EFO:0000474", source="MONDO:equivalentTo", source="DOID:1826"}
xref: UMLS:C0014544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4506"}
is_a: MONDO:0002602 {source="ISBN-13:978-1-259-64403-0"} ! central nervous system disorder
is_a: MONDO:0005560 {source="DOID:1826", source="MESH:D004827"} ! brain disorder
relationship: disease_has_feature HP:0001250 ! Seizure
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain

[Term]
id: MONDO:0005028
name: esophageal adenocarcinoma
def: "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." [NCIT:C4025]
subset: gard_rare {source="GARD:16927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99976"}
subset: orphanet_rare {source="Orphanet:99976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma - esophagus" EXACT [NCIT:C4025]
synonym: "adenocarcinoma - oesophagus" EXACT OMO:0003005 []
synonym: "adenocarcinoma of esophagus" EXACT [DOID:4914, MONDO:0020565, NCIT:C4025]
synonym: "adenocarcinoma of oesophagus" EXACT OMO:0003005 []
synonym: "adenocarcinoma of the esophagus" EXACT [NCIT:C4025]
synonym: "adenocarcinoma of the oesophagus" EXACT OMO:0003005 []
synonym: "esophageal adenocarcinoma" EXACT [NCIT:C4025, Orphanet:99976]
synonym: "esophagus adenocarcinoma" EXACT [MONDO:0003201, MONDO:patterns/location, NCIT:C4025]
synonym: "oesophageal adenocarcinoma" EXACT [DOID:4914]
synonym: "oesophageal adenocarcinoma NOS" RELATED EXCLUDE [DOID:4914, NCIT:C4025]
synonym: "oesophagus adenocarcinoma" EXACT OMO:0003005 []
xref: DOID:4914 {source="MONDO:equivalentTo", source="EFO:0000478"}
xref: EFO:0000478 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16927 {source="MONDO:GARD"}
xref: ICD10CM:C15.5 {source="Orphanet:99976/btnt", source="Orphanet:99976"}
xref: icd11.foundation:829915640 {source="Orphanet:99976", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:124636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562730 {source="EFO:0000478", source="DOID:4914"}
xref: NCIT:C4025 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"}
xref: ONCOTREE:ESCA {source="MONDO:equivalentTo"}
xref: Orphanet:99976 {source="MONDO:equivalentTo"}
xref: SCTID:276803003 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"}
xref: UMLS:C0279628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124636"}
is_a: MONDO:0004970 {source="EFO:0000478", source="MONDO:Redundant", source="NCIT:C4025"} ! adenocarcinoma
is_a: MONDO:0019086 {source="DOID:4914", source="MONDO:Redundant", source="NCIT:C4025", source="Orphanet:99976"} ! carcinoma of esophagus
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus
relationship: disease_has_location UBERON:0001043 {source="EFO:0000784"} ! esophagus

[Term]
id: MONDO:0005029
name: essential thrombocythemia
def: "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" [https://github.com/monarch-initiative/mondo/issues/230, NCIT:C3407]
subset: gard_rare {source="GARD:6594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1110"}
subset: ordo_disorder {source="Orphanet:3318"}
subset: orphanet_rare {source="Orphanet:3318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "essential thrombocytemia" EXACT [NCIT:C3407]
synonym: "essential thrombocythaemia" EXACT [DOID:2224]
synonym: "essential thrombocythemia" EXACT [NCIT:C3407]
synonym: "essential thrombocytosis" EXACT [NCIT:C3407, Orphanet:3318]
synonym: "ET" BROAD ABBREVIATION [NCIT:C3407, Orphanet:3318]
synonym: "familial thrombocytosis" RELATED EXCLUDE [DOID:2224]
synonym: "hemorrhagic thrombocythemia" EXACT [DOID:2224]
synonym: "hereditary thrombocythemia" RELATED EXCLUDE [DOID:2224]
synonym: "idiopathic thrombocythemia" NARROW [GARD:0006594, NCIT:C3407]
synonym: "primary thrombocythemia" EXACT [GARD:0006594, NCIT:C3407]
synonym: "primary thrombocytosis" EXACT [DOID:2224, NCIT:C3407]
xref: DOID:2224 {source="MONDO:equivalentTo", source="EFO:0000479"}
xref: EFO:0000479 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6594 {source="MONDO:GARD"}
xref: ICD10CM:D47.3 {source="DOID:2224", source="Orphanet:3318", source="Orphanet:3318/e"}
xref: ICD9:238.71 {source="DOID:2224", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000479"}
xref: ICDO:9962/3 {source="NCIT:C3407"}
xref: MedDRA:10015493 {source="Orphanet:3318", source="Orphanet:3318/e"}
xref: MEDGEN:11797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013920 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="Orphanet:3318", source="Orphanet:3318/e"}
xref: NANDO:2100194 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200655 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3407 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479", source="MONDO:exact-label-match"}
xref: NORD:1110 {source="MONDO:NORD"}
xref: ONCOTREE:ET {source="MONDO:equivalentTo"}
xref: Orphanet:3318 {source="DOID:2224", source="MONDO:equivalentTo"}
xref: Orphanet:71493 {source="MONDO:relatedTo", source="DOID:2224"}
xref: SCTID:109994006 {source="DOID:2224", source="MONDO:equivalentTo", source="EFO:0000479"}
xref: SCTID:128844009 {source="DOID:2224", source="EFO:0000479"}
xref: SCTID:189508006 {source="DOID:2224"}
xref: SCTID:189513005 {source="DOID:2224"}
xref: SCTID:189514004 {source="DOID:2224"}
xref: SCTID:191333009 {source="DOID:2224"}
xref: SCTID:234499005 {source="DOID:2224"}
xref: SCTID:307652003 {source="DOID:2224"}
xref: SCTID:65471002 {source="DOID:2224"}
xref: UMLS:C0040028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11797"}
is_a: MONDO:0002249 {source="https://orcid.org/0000-0002-4142-7153"} ! thrombocytosis disease
is_a: MONDO:0020076 {source="DOID:2224", source="EFO:0000479", source="MONDO:Redundant", source="NCIT:C3407", source="ONCOTREE:ET", source="Orphanet:3318"} ! myeloproliferative neoplasm
relationship: disease_has_feature HP:0001894 ! Thrombocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia" xsd:anyURI {source="GARD:0006594"}

[Term]
id: MONDO:0005030
name: fetal growth restriction
def: "A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age." [NCIT:P378]
comment: Editor note: check if should be a disease
subset: otar {source="MONDO:OTAR"}
synonym: "fetal Growth retardation" EXACT [NCIT:C114875]
synonym: "fetal growth retardation" EXACT [NCIT:C114875]
synonym: "fetal SGA" EXACT [NCIT:C114875]
synonym: "fetal small for gestational Age" EXACT [NCIT:C114875]
synonym: "fetus small for gestational Age" EXACT [NCIT:C114875]
synonym: "foetal Growth retardation" EXACT OMO:0003005 []
synonym: "foetal growth retardation" EXACT OMO:0003005 []
synonym: "foetal SGA" EXACT OMO:0003005 []
synonym: "foetal small for gestational Age" EXACT OMO:0003005 []
synonym: "foetus small for gestational Age" EXACT OMO:0003005 []
synonym: "intrauterine Growth restriction" EXACT [NCIT:C114875]
synonym: "intrauterine Growth retardation" EXACT [NCIT:C114875]
synonym: "IUGR" EXACT ABBREVIATION [NCIT:C114875]
xref: EFO:0000495 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:764.9 {source="EFO:0000495"}
xref: ICD9:764.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:764.91 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:764.92 {source="EFO:0000495"}
xref: ICD9:764.93 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:764.94 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:764.95 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:764.96 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:764.97 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:764.98 {source="EFO:0000495", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:764.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005317 {source="EFO:0000495", source="MONDO:equivalentTo"}
xref: NCIT:C114875 {source="MONDO:equivalentTo"}
xref: NCIT:C80083 {source="EFO:0000495", source="MONDO:otherHierarchy"}
xref: SCTID:22033007 {source="EFO:0000495", source="MONDO:equivalentTo"}
xref: UMLS:C0015934 {source="MEDGEN:4693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005917 {source="EFO:0000495"} ! placenta disorder
relationship: disease_has_location UBERON:0001987 {source="EFO:0000784"} ! placenta

[Term]
id: MONDO:0005031
name: fibromatosis
def: "A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." [NCIT:C3042]
subset: otar {source="MONDO:OTAR"}
synonym: "fibromatosis" EXACT [NCIT:C3042]
xref: EFO:0000497 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:8836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3042 {source="EFO:0000497", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:19928005 {source="EFO:0000497"}
xref: SCTID:723976005 {source="MONDO:equivalentTo"}
xref: UMLS:C0016048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8836"}
is_a: MONDO:0005070 {source="EFO:0000497", source="MONDO:Redundant", source="NCIT:C3042/inferred"} ! neoplasm
is_a: MONDO:0006209 {source="NCIT:C3042"} ! fibroblastic neoplasm

[Term]
id: MONDO:0005032
name: follicular thyroid adenoma
def: "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics." [NCIT:C3502]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoma of the thyroid" EXACT [NCIT:C3502]
synonym: "adenoma of the thyroid gland" EXACT [NCIT:C3502]
synonym: "adenoma of thyroid" EXACT [NCIT:C3502]
synonym: "adenoma of thyroid gland" EXACT [DOID:2891, NCIT:C3502]
synonym: "adenoma, follicular cell, benign" EXACT [NCIT:C3502]
synonym: "follicular adenoma" EXACT [NCIT:C3502]
synonym: "follicular adenoma (morphologic abnormality)" EXACT [DOID:6204]
synonym: "follicular adenoma of the thyroid" EXACT [NCIT:C3502]
synonym: "follicular adenoma of the thyroid gland" EXACT [DOID:6204, NCIT:C3502, NCIT:C3684]
synonym: "follicular adenoma of thyroid" EXACT [NCIT:C3502]
synonym: "follicular adenoma of thyroid gland" EXACT [NCIT:C3502]
synonym: "follicular thyroid adenoma" EXACT [MONDO:0003807]
synonym: "thyroid adenoma" EXACT [NCIT:C3502]
synonym: "thyroid adenoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "thyroid follicle adenoma" EXACT []
synonym: "thyroid follicular adenoma" EXACT [NCIT:C3502]
synonym: "thyroid gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3502]
synonym: "thyroid gland follicular adenoma" EXACT [NCIT:C3502]
xref: DOID:2891 {source="MONDO:equivalentTo"}
xref: DOID:6204 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:0000499 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000854 {source="MONDO:otherHierarchy"}
xref: ICDO:8330/0 {source="NCIT:C3502"}
xref: MESH:D000236 {source="DOID:6204"}
xref: MESH:D013964 {source="DOID:2891"}
xref: NCIT:C3502 {source="DOID:2891", source="EFO:0000499", source="MONDO:equivalentTo"}
xref: SCTID:154623004 {source="DOID:2891"}
xref: SCTID:189174004 {source="DOID:2891"}
xref: SCTID:21930005 {source="EFO:0000499"}
xref: SCTID:255033000 {source="DOID:2891", source="MONDO:equivalentTo"}
xref: SCTID:255034006 {source="DOID:2891", source="EFO:0000499", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:269644003 {source="DOID:2891"}
xref: SCTID:27230006 {source="EFO:0000499"}
xref: SCTID:55021007 {source="DOID:6204", source="EFO:0000499"}
xref: SCTID:77653004 {source="EFO:0000499"}
xref: SCTID:79494009 {source="EFO:0000499"}
xref: SCTID:86143001 {source="EFO:0000499"}
is_a: MONDO:0000627 {source="DOID:6204/inferred", source="MONDO:Redundant", source="NCIT:C3502"} ! benign endocrine neoplasm
is_a: MONDO:0004972 {source="DOID:2891", source="MONDO:Redundant"} ! adenoma
is_a: MONDO:0006107 {source="MONDO:Redundant", source="NCIT:C3502"} ! benign thyroid gland neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0005305 ! thyroid follicle
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
property_value: IAO:0000589 "thyroid adenoma (disease)" xsd:string

[Term]
id: MONDO:0005033
name: ganglioneuroma
def: "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." [NCIT:C3049]
subset: gard_rare {source="GARD:20731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251992"}
subset: orphanet_rare {source="Orphanet:251992"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ganglioneuroma" EXACT [MONDO:ambiguous, NCIT:C3049]
synonym: "ganglioneuroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "ganglioneuroma (Schwannian Stroma-dominant)" EXACT [NCIT:C3049]
synonym: "ganglioneuroma, benign" EXACT [NCIT:C3049]
synonym: "GN" RELATED ABBREVIATION [ONCOTREE:GN]
synonym: "neural Crest tumor, benign" EXACT [NCIT:C3049]
xref: DOID:4817 {source="MONDO:equivalentTo", source="EFO:0000500"}
xref: EFO:0000500 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20731 {source="MONDO:GARD"}
xref: HP:0003005 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D36.1 {source="Orphanet:251992", source="Orphanet:251992/ntbt"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9490/0 {source="NCIT:C3049"}
xref: MedDRA:10017709 {source="Orphanet:251992", source="Orphanet:251992/e"}
xref: MEDGEN:6545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005729 {source="EFO:0000500", source="MONDO:directSiblingOf"}
xref: NCIT:C3049 {source="MONDO:equivalentTo", source="EFO:0000500"}
xref: NCIT:C42065 {source="DOID:4817"}
xref: NIFSTD:birnlex_12617 {source="EFO:0000500"}
xref: ONCOTREE:GN {source="MONDO:equivalentTo"}
xref: Orphanet:251992 {source="MONDO:equivalentTo"}
xref: SCTID:116371000119107 {source="MONDO:equivalentTo"}
xref: SCTID:53801007 {source="EFO:0000500"}
xref: UMLS:C0017075 {source="MEDGEN:6545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002366 {source="DOID:4817", source="MONDO:Redundant", source="NCIT:C3049"} ! autonomic nervous system neoplasm
is_a: MONDO:0006316 {source="NCIT:C3049"} ! neuroblastic tumor
is_a: MONDO:0016729 {source="Orphanet:251992"} ! mixed neuronal-glial tumor
relationship: disease_has_location UBERON:0000013 {source="EFO:0000784"} ! sympathetic nervous system
property_value: IAO:0000589 "ganglioneuroma (disease)" xsd:string

[Term]
id: MONDO:0005034
name: thyroid gland follicular carcinoma
def: "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy." [NCIT:C8054]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of thyroid follicle" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, follicular cell, malignant" EXACT [NCIT:C8054]
synonym: "follicular adenocarcinoma" NARROW [NCIT:C8054]
synonym: "follicular adenocarcinoma (morphologic abnormality)" NARROW [DOID:3962]
synonym: "follicular adenocarcinoma, well differentiated" NARROW [DOID:3962]
synonym: "follicular adenocarcinoma, well differentiated (morphologic abnormality)" NARROW [DOID:3962]
synonym: "follicular cancer of the thyroid" BROAD [NCIT:C8054]
synonym: "follicular cancer of the thyroid gland" BROAD [NCIT:C8054]
synonym: "follicular cancer of thyroid" BROAD [NCIT:C8054]
synonym: "follicular cancer of thyroid gland" BROAD [NCIT:C8054]
synonym: "follicular carcinoma" EXACT [DOID:3962, NCIT:C8054]
synonym: "follicular carcinoma of the thyroid" EXACT [NCIT:C8054]
synonym: "follicular carcinoma of the thyroid gland" EXACT [DOID:3962, NCIT:C8054]
synonym: "follicular carcinoma of thyroid" EXACT [NCIT:C8054]
synonym: "follicular carcinoma of thyroid gland" EXACT [NCIT:C8054]
synonym: "follicular thyroid cancer" EXACT [NCIT:C8054]
synonym: "follicular thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C8054]
synonym: "follicular thyroid gland carcinoma" EXACT [NCIT:C8054]
synonym: "thyroid adenocarcinoma" NARROW EXCLUDE [DOID:3962]
synonym: "thyroid follicle carcinoma" EXACT []
synonym: "thyroid follicular carcinoma" EXACT [NCIT:C8054]
synonym: "thyroid gland adenocarcinoma" NARROW [MONDO:patterns/location]
synonym: "thyroid gland follicular cancer" BROAD [NCIT:C8054]
synonym: "thyroid gland follicular carcinoma" EXACT [NCIT:C8054]
synonym: "well-differentiated follicular adenocarcinoma" EXACT [NCIT:C8054]
synonym: "well-differentiated follicular carcinoma" BROAD [NCIT:C8054]
xref: DOID:3962 {source="MONDO:equivalentTo", source="EFO:0000501"}
xref: EFO:0000501 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0006731 {source="MONDO:otherHierarchy"}
xref: ICDO:8330/3 {source="NCIT:C8054"}
xref: ICDO:8331/3 {source="NCIT:C8054"}
xref: MEDGEN:64630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018263 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501"}
xref: NCIT:C27380 {source="EFO:0000501", source="MONDO:directSiblingOf"}
xref: NCIT:C8054 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501"}
xref: ONCOTREE:THFO {source="MONDO:equivalentTo"}
xref: SCTID:189642005 {source="DOID:3962"}
xref: SCTID:255028004 {source="DOID:3962", source="MONDO:equivalentTo", source="EFO:0000501"}
xref: SCTID:28173006 {source="DOID:3962"}
xref: SCTID:5257006 {source="DOID:3962"}
xref: UMLS:C0206682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64630"}
is_a: MONDO:0004970 {source="DOID:3962", source="MESH:D018263", source="MONDO:0005034/inferred", source="MONDO:Entailed", source="NCIT:C8054/inferred"} ! adenocarcinoma
is_a: MONDO:0015075 {source="DOID:3962", source="MONDO:Entailed", source="NCIT:C8054/inferred"} ! thyroid gland carcinoma
is_a: MONDO:0015447 {source="EFO:0000501", source="NCIT:C8054", source="ONCOTREE:THFO"} ! differentiated thyroid carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0005305 ! thyroid follicle
relationship: disease_has_location UBERON:0002046 {source="EFO:0000784"} ! thyroid gland

[Term]
id: MONDO:0005035
name: ganglioneuroblastoma
def: "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." [NCIT:C3790]
subset: gard_rare {source="GARD:20719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251877"}
subset: orphanet_rare {source="Orphanet:251877"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ganglioneuroblastoma" EXACT [MONDO:ambiguous, NCIT:C3790]
synonym: "ganglioneuroblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "ganglioneuroblastoma (morphologic abnormality)" EXACT [DOID:4163]
synonym: "ganglioneuroblastoma, malignant" EXACT [NCIT:C3790]
xref: DOID:4163 {source="MONDO:equivalentTo", source="EFO:0000502"}
xref: EFO:0000502 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20719 {source="MONDO:GARD"}
xref: HP:0006747 {source="MONDO:otherHierarchy"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9490/3 {source="NCIT:C3790"}
xref: MedDRA:10017708 {source="Orphanet:251877/e", source="Orphanet:251877"}
xref: MEDGEN:60218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018305 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="EFO:0000502", source="DOID:4163"}
xref: NANDO:2200041 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3790 {source="MONDO:equivalentTo", source="EFO:0000502", source="DOID:4163"}
xref: NIFSTD:birnlex_12633 {source="EFO:0000502"}
xref: ONCOTREE:GNBL {source="MONDO:equivalentTo"}
xref: Orphanet:251877 {source="MONDO:equivalentTo"}
xref: SCTID:116381000119105 {source="MONDO:equivalentTo", source="DOID:4163"}
xref: SCTID:69515008 {source="EFO:0000502", source="DOID:4163"}
xref: UMLS:C0206718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60218"}
is_a: MONDO:0006316 {source="NCIT:C3790"} ! neuroblastic tumor
relationship: excluded_subClassOf MONDO:0005072 {source="DOID:4163", source="https://orcid.org/0000-0001-5208-3432"} ! neuroblastoma
property_value: IAO:0000589 "ganglioneuroblastoma (disease)" xsd:string

[Term]
id: MONDO:0005036
name: gastric adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the stomach" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma - stomach" EXACT [NCIT:C4004]
synonym: "adenocarcinoma of stomach" EXACT [NCIT:C4004]
synonym: "adenocarcinoma of the stomach" EXACT [NCIT:C4004]
synonym: "gastric (stomach) adenocarcinoma" EXACT [NCIT:C4004]
synonym: "gastric adenocarcinoma" EXACT [NCIT:C4004]
synonym: "STAD" RELATED ABBREVIATION [ONCOTREE:STAD]
synonym: "stomach adenocarcinoma" EXACT [DOID:3717, MONDO:patterns/location, NCIT:C4004]
xref: DOID:3717 {source="MONDO:equivalentTo", source="EFO:0000503"}
xref: EFO:0000503 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:82961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4004 {source="MONDO:equivalentTo", source="EFO:0000503", source="MONDO:exact-label-match", source="DOID:3717"}
xref: ONCOTREE:STAD {source="MONDO:equivalentTo"}
xref: Orphanet:464463 {source="MONDO:equivalentObsolete"}
xref: SCTID:408647009 {source="MONDO:equivalentTo", source="EFO:0000503", source="DOID:3717"}
xref: UMLS:C0278701 {source="MEDGEN:82961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004950 {source="DOID:3717", source="MONDO:Redundant", source="NCIT:C4004"} ! gastric carcinoma
is_a: MONDO:0004970 {source="DOID:3717", source="EFO:0000503", source="MONDO:Redundant", source="NCIT:C4004"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: disease_has_location UBERON:0000945 {source="EFO:0000784"} ! stomach

[Term]
id: MONDO:0005037
name: gastric intestinal type adenocarcinoma
def: "An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "gastric intestinal type adenocarcinoma" EXACT [NCIT:C9157]
synonym: "gastric intestinal-type adenocarcinoma" EXACT [NCIT:C9157]
synonym: "intestinal adenocarcinoma of stomach" EXACT [NCIT:C9157]
synonym: "intestinal adenocarcinoma of the stomach" EXACT [NCIT:C9157]
synonym: "intestinal gastric adenocarcinoma" EXACT [NCIT:C9157]
synonym: "intestinal stomach adenocarcinoma" EXACT [NCIT:C9157]
synonym: "intestinal type stomach adenocarcinoma" RELATED [ONCOTREE:ISTAD]
xref: EFO:0000504 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9157 {source="MONDO:equivalentTo", source="EFO:0000504"}
xref: ONCOTREE:ISTAD {source="MONDO:equivalentTo"}
xref: UMLS:C0279633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79017"}
is_a: MONDO:0005036 {source="MONDO:Redundant", source="NCIT:C9157/inferred", source="ONCOTREE:ISTAD"} ! gastric adenocarcinoma
is_a: MONDO:0006254 {source="MONDO:Redundant", source="NCIT:C9157"} ! intestinal type adenocarcinoma
intersection_of: MONDO:0006254 ! intestinal type adenocarcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: disease_has_location UBERON:0000160 {source="EFO:0000784"} ! intestine
relationship: disease_has_location UBERON:0000945 {source="EFO:0000784"} ! stomach

[Term]
id: MONDO:0005038
name: obsolete genetic disorder
is_obsolete: true
replaced_by: MONDO:0003847

[Term]
id: MONDO:0005039
name: reproductive system disorder
def: "A disease involving the reproductive system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of reproductive system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of reproductive system" EXACT []
synonym: "disorder of reproductive system" EXACT [MONDO:patterns/location_top, NCIT:C4875]
synonym: "genital disorders" EXACT [NCIT:C4875]
synonym: "genital system disease" EXACT [DOID:15]
synonym: "reproductive disease" EXACT [DOID:15]
synonym: "reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C4875]
synonym: "reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "reproductive system disorder" EXACT [NCIT:C4875]
xref: DOID:15 {source="MONDO:equivalentTo", source="EFO:0000512"}
xref: EFO:0000512 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q50-Q56 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:61253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27613 {source="DOID:15"}
xref: NCIT:C4875 {source="MONDO:equivalentTo"}
xref: SCTID:362968007 {source="MONDO:equivalentTo", source="EFO:0000512"}
xref: UMLS:C0178829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61253"}
xref: Wikipedia:Reproductive_system_disease {source="EFO:0000512"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0000990 ! reproductive system

[Term]
id: MONDO:0005040
name: germ cell tumor
def: "A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C3708]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "germ cell cancer" RELATED [DOID:2994]
synonym: "germ cell neoplasm" EXACT [DOID:2994, NCIT:C3708]
synonym: "germ cell tumor" EXACT [DOID:2994, NCIT:C3708]
synonym: "germ cells tumors" RELATED [GARD:0013022]
synonym: "germ cells tumours" RELATED OMO:0003005 []
synonym: "malignant tumor of the germ cell" RELATED EXCLUDE [DOID:2994]
synonym: "malignant tumour of the germ cell" RELATED OMO:0003005 []
synonym: "neoplasm of germ cell" EXACT [NCIT:C3708]
synonym: "neoplasm of the germ cell" EXACT [NCIT:C3708]
synonym: "tumor of germ cell" EXACT [NCIT:C3708]
synonym: "tumor of the germ cell" EXACT [NCIT:C3708]
synonym: "tumour of germ cell" EXACT OMO:0003005 []
synonym: "tumour of the germ cell" EXACT OMO:0003005 []
xref: DOID:2994 {source="MONDO:equivalentTo", source="EFO:0000514"}
xref: DOID:688 {source="EFO:0000514", source="MONDO:directSiblingOf"}
xref: EFO:0000514 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:60030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009373 {source="DOID:2994", source="EFO:0000514"}
xref: MESH:D018237 {source="EFO:0000514"}
xref: NCIT:C3708 {source="DOID:2994", source="MONDO:equivalentTo", source="EFO:0000514"}
xref: SCTID:115233005 {source="DOID:2994"}
xref: SCTID:189839002 {source="DOID:2994"}
xref: SCTID:189854008 {source="DOID:2994"}
xref: SCTID:28307001 {source="DOID:2994"}
xref: SCTID:302853003 {source="DOID:2994"}
xref: SCTID:402878003 {source="DOID:2994", source="EFO:0000514"}
xref: UMLS:C0205851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60030"}
is_a: MONDO:0005070 {source="DOID:2994/inferred", source="EFO:0000514", source="MONDO:Redundant", source="NCIT:C3708/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000586 ! germ cell

[Term]
id: MONDO:0005041
name: glaucoma
def: "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "glaucoma" EXACT [MONDO:ambiguous]
synonym: "glaucoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1686 {source="MONDO:equivalentTo", source="EFO:0000516"}
xref: HP:0000501 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H40 {source="DOID:1686"}
xref: ICD10CM:H40-H42 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:1686", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H40.9 {source="DOID:1686"}
xref: ICD9:365 {source="DOID:1686", source="EFO:0000516"}
xref: ICD9:365.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:365.9 {source="MONDO:equivalentTo", source="DOID:1686", source="MONDO:i2s"}
xref: MEDGEN:42224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005901 {source="MONDO:equivalentTo", source="DOID:1686", source="EFO:0000516"}
xref: NCIT:C26782 {source="MONDO:equivalentTo", source="DOID:1686", source="EFO:0000516"}
xref: SCTID:155120009 {source="DOID:1686"}
xref: SCTID:193569008 {source="DOID:1686"}
xref: SCTID:194631001 {source="DOID:1686"}
xref: SCTID:23986001 {source="MONDO:equivalentTo", source="DOID:1686", source="EFO:0000516"}
xref: UMLS:C0017601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42224"}
is_a: MONDO:0005328 {source="DOID:1686", source="MESH:D005901/inferred", source="NCIT:C26782/inferred"} ! eye disorder
relationship: disease_has_location UBERON:0010230 ! eyeball of camera-type eye
property_value: IAO:0000589 "glaucoma (disease)" xsd:string

[Term]
id: MONDO:0005042
name: obsolete head disorder
def: "A disease involving the head." [MONDO:patterns/location_top]
comment: Reason: grouping class specific to autosomal disorder. Term to consider: none.
synonym: "disease of head" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of head" EXACT []
synonym: "disorder of head" EXACT [MONDO:patterns/location_top]
synonym: "head disease" EXACT [MONDO:patterns/location]
synonym: "head disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: SCTID:118934005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4621" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0005043
name: hyperplasia
def: "An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement." [NCIT:C3113]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperplasia" EXACT [NCIT:C3113]
synonym: "hyperplastic" EXACT [NCIT:C3113]
xref: EFO:0000536 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:43784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006965 {source="MONDO:equivalentTo", source="EFO:0000536"}
xref: NCIT:C3113 {source="MONDO:equivalentTo", source="EFO:0000536", source="MONDO:exact-label-match"}
xref: SCTID:76197007 {source="EFO:0000536"}
xref: UMLS:C0020507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43784"}
is_a: MONDO:0045024 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! cancer or benign tumor

[Term]
id: MONDO:0005044
name: hypertensive disorder
def: "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more." [MESH:D006973]
subset: otar {source="MONDO:OTAR"}
synonym: "blood pressure, high" EXACT [NCIT:C3117]
synonym: "blood pressure, increased" EXACT [NCIT:C3117]
synonym: "high blood pressure" EXACT [DOID:10763]
synonym: "HTN" BROAD ABBREVIATION [DOID:10763]
synonym: "hyperpiesia" EXACT [DOID:10763]
synonym: "hypertension" RELATED [DOID:10763]
synonym: "hypertensive disease" EXACT [DOID:10763, MTH:NOCODE]
synonym: "increased blood pressure" EXACT [NCIT:C3117]
synonym: "pressure, high blood" EXACT [NCIT:C3117]
synonym: "vascular hypertensive disorder" EXACT [DOID:10763, NCIT:C3117]
xref: DOID:10763 {source="MONDO:equivalentTo", source="EFO:0000537"}
xref: EFO:0000537 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000822 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I10 {source="DOID:10763"}
xref: ICD10CM:I10-I15 {source="DOID:10763"}
xref: ICD10CM:I10-I16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I15 {source="MONDO:equivalentTo"}
xref: ICD9:401-405.99 {source="DOID:10763", source="EFO:0000537"}
xref: ICD9:997.91 {source="DOID:10763"}
xref: MEDGEN:6969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006973 {source="DOID:10763", source="MONDO:equivalentTo", source="EFO:0000537"}
xref: NCIT:C3117 {source="DOID:10763", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match", source="EFO:0000537"}
xref: SCTID:155295004 {source="DOID:10763"}
xref: SCTID:155302005 {source="DOID:10763"}
xref: SCTID:194756002 {source="DOID:10763"}
xref: SCTID:194757006 {source="DOID:10763"}
xref: SCTID:194760004 {source="DOID:10763"}
xref: SCTID:194794002 {source="DOID:10763"}
xref: SCTID:195537001 {source="DOID:10763"}
xref: SCTID:266287006 {source="DOID:10763"}
xref: SCTID:38341003 {source="DOID:10763", source="MONDO:equivalentTo"}
xref: UMLS:C0020538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6969"}
is_a: MONDO:0000473 {source="DOID:10763"} ! arterial disorder
is_a: MONDO:0005385 {source="DOID:10763/inferred", source="MESH:D006973", source="MONDO:indirect"} ! vascular disorder
relationship: disease_arises_from_feature HP:0000822 ! Hypertension
relationship: disease_has_location UBERON:0004573 ! systemic artery

[Term]
id: MONDO:0005045
name: hypertrophic cardiomyopathy
def: "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract." [NCIT:C34449]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:217569"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hypertrophic cardiomyopathy" NARROW [DOID:11984]
synonym: "HCM - hypertrophic cardiomyopathy" RELATED []
synonym: "hypertrophic cardiomyopathy" EXACT CLINGEN_LABEL []
synonym: "hypertrophic obstructive cardiomyopathy" EXACT [DOID:11984]
synonym: "hypertrophic subaortic stenosis" EXACT [Orphanet:217569]
synonym: "obstructive hypertrophic cardiomyopathy" EXACT [Orphanet:217569]
xref: DOID:11984 {source="MONDO:equivalentTo", source="EFO:0000538"}
xref: EFO:0000538 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001639 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0002-9584-9618"}
xref: ICD10CM:I42.1 {source="DOID:11984", source="MONDO:mondoIsBroaderThanSource"}
xref: ICD10CM:I42.2 {source="MONDO:relatedTo"}
xref: ICD9:425.1 {source="MONDO:mondoIsNarrowerThanSource", source="DOID:11984", source="EFO:0000538", source="https://orcid.org/0000-0002-9584-9618"}
xref: ICD9:425.11 {source="DOID:11984"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10020871 {source="Orphanet:217569", source="Orphanet:217569/e"}
xref: MEDGEN:2881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002312 {source="DOID:11984", source="Orphanet:217569", source="MONDO:equivalentTo", source="Orphanet:217569/e", source="EFO:0000538"}
xref: MESH:D024741 {source="DOID:11984"}
xref: NANDO:1200286 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200288 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100054 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200229 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201042 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34449 {source="DOID:11984", source="MONDO:equivalentTo", source="EFO:0000538"}
xref: NCIT:C84773 {source="DOID:11984"}
xref: Orphanet:155 {source="DOID:11984"}
xref: Orphanet:217569 {source="MONDO:equivalentTo"}
xref: SCTID:15471000 {source="DOID:11984"}
xref: SCTID:155351008 {source="DOID:11984"}
xref: SCTID:233873004 {source="DOID:11984", source="MONDO:equivalentTo", source="EFO:0000538"}
xref: SCTID:266301006 {source="DOID:11984"}
xref: SCTID:389998005 {source="DOID:11984"}
xref: SCTID:389999002 {source="DOID:11984"}
xref: SCTID:45227007 {source="DOID:11984"}
xref: SCTID:83978005 {source="DOID:11984"}
xref: UMLS:C0007194 {source="MEDGEN:2881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000591 {source="DOID:11984", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy
is_a: MONDO:0004994 {source="DOID:11984/inferred", source="EFO:0000538", source="ICD10CM:I42.1", source="MESH:D002312", source="MONDO:Redundant", source="NCIT:C34449", source="NCIT:C84773/inferred", source="Orphanet:217569"} ! cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5962" xsd:anyURI

[Term]
id: MONDO:0005046
name: immune system disorder
def: "A disorder resulting from an abnormality in the immune system." [NCIT:C3507]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of immune system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of immune system" EXACT []
synonym: "disorder of immune system" EXACT [MONDO:patterns/location_top, NCIT:C3507]
synonym: "immune disease" EXACT [DOID:2914]
synonym: "immune disorder" EXACT [NCIT:C3507]
synonym: "immune disorder, NOS" RELATED EXCLUDE [NCIT:C3507]
synonym: "immune dysfunction" EXACT [NCIT:C3507]
synonym: "immune system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "immune system disorder" EXACT [NCIT:C3507]
xref: DOID:2914 {source="EFO:0000540", source="MONDO:equivalentTo"}
xref: EFO:0000540 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D80-D89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D89.9 {source="DOID:2914"}
xref: ICD9:279 {source="EFO:0000540", source="DOID:2914"}
xref: ICD9:279.1 {source="EFO:0000540"}
xref: ICD9:279.10 {source="EFO:0000540"}
xref: ICD9:279.19 {source="EFO:0000540"}
xref: ICD9:279.4 {source="EFO:0000540"}
xref: ICD9:279.49 {source="EFO:0000540"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="EFO:0000540", source="MONDO:i2s"}
xref: ICD9:279.9 {source="EFO:0000540", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2914"}
xref: MEDGEN:5759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001327 {source="EFO:0000540"}
xref: MESH:D007154 {source="MONDO:equivalentTo"}
xref: NANDO:1100004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100202 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27351 {source="EFO:0000540"}
xref: NCIT:C3507 {source="MONDO:equivalentTo"}
xref: SCTID:154782004 {source="DOID:2914"}
xref: SCTID:191015009 {source="DOID:2914"}
xref: SCTID:191019003 {source="DOID:2914"}
xref: SCTID:191035005 {source="DOID:2914"}
xref: SCTID:414029004 {source="MONDO:equivalentTo"}
xref: UMLS:C0021053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5759"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0002405 ! immune system

[Term]
id: MONDO:0005047
name: infertility disorder
def: "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues." [NCIT:C3836]
comment: Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting
subset: otar {source="MONDO:OTAR"}
synonym: "fertility disorders" EXACT [NCIT:C3836]
synonym: "infertile" EXACT [NCIT:C3836]
synonym: "infertility" RELATED [DOID:5223]
synonym: "Sterile" EXACT [NCIT:C3836]
synonym: "sterile" EXACT [NCIT:C3836]
synonym: "sterility" EXACT [NCIT:C3836]
xref: DOID:5223 {source="MONDO:equivalentTo", source="EFO:0000545"}
xref: EFO:0000545 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:43876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007246 {source="DOID:5223", source="MONDO:equivalentTo", source="EFO:0000545"}
xref: NCIT:C3836 {source="DOID:5223", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000545", source="MONDO:exact-label-match"}
xref: SCTID:15296000 {source="DOID:5223", source="EFO:0000545"}
xref: SCTID:162186008 {source="DOID:5223"}
xref: SCTID:261029002 {source="EFO:0000545"}
xref: SCTID:289179008 {source="DOID:5223"}
xref: SCTID:8619003 {source="DOID:5223", source="EFO:0000545"}
xref: UMLS:C0021359 {source="MEDGEN:43876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="DOID:5223", source="EFO:0000545", source="MESH:D007246/inferred"} ! reproductive system disorder
relationship: disease_has_feature HP:0000789 ! Infertility

[Term]
id: MONDO:0005048
name: pancreatic insulin-producing neuroendocrine tumor
def: "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome." [NCIT:C3140]
subset: gard_rare {source="GARD:3010", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:97279"}
subset: orphanet_rare {source="Orphanet:97279"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "beta cell neoplasm" EXACT [NCIT:C3140]
synonym: "Beta cell tumor" EXACT [NCIT:C3140]
synonym: "Beta cell tumor of pancreas" EXACT [NCIT:C3140]
synonym: "Beta cell tumor of the pancreas" EXACT [NCIT:C3140]
synonym: "beta cell tumor of the pancreas" EXACT [NCIT:C3140]
synonym: "Beta cell tumour" EXACT OMO:0003005 []
synonym: "Beta cell tumour of pancreas" EXACT OMO:0003005 []
synonym: "Beta cell tumour of the pancreas" EXACT OMO:0003005 []
synonym: "beta cell tumour of the pancreas" EXACT OMO:0003005 []
synonym: "insulin-producing islet cell tumor" EXACT [NCIT:C3140]
synonym: "insulin-producing islet cell tumour" EXACT OMO:0003005 []
synonym: "insulin-producing tumor of islet cells" EXACT [NCIT:C3140]
synonym: "insulin-producing tumor of the islet cells" EXACT [NCIT:C3140]
synonym: "insulin-producing tumour of islet cells" EXACT OMO:0003005 []
synonym: "insulin-producing tumour of the islet cells" EXACT OMO:0003005 []
synonym: "pancreatic Beta cell tumor" EXACT [NCIT:C3140]
synonym: "pancreatic Beta cell tumour" EXACT OMO:0003005 []
synonym: "pancreatic insulin producing neoplasm" EXACT [NCIT:C3140]
synonym: "pancreatic insulin producing NET" EXACT [NCIT:C3140]
synonym: "pancreatic insulin producing tumor" EXACT [NCIT:C3140]
synonym: "pancreatic insulin producing tumour" EXACT OMO:0003005 []
synonym: "pancreatic insulin-producing neuroendocrine tumor" EXACT [NCIT:C3140]
synonym: "pancreatic insulin-producing tumor" EXACT [NCIT:C3140]
synonym: "pancreatic insulin-producing tumour" EXACT OMO:0003005 []
xref: EFO:0000549 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3010 {source="MONDO:GARD"}
xref: ICDO:8151/0 {source="NCIT:C3140"}
xref: ICDO:8151/1 {source="NCIT:C3140"}
xref: NCIT:C3140 {source="MONDO:equivalentTo"}
xref: Orphanet:97279 {source="MONDO:equivalentTo"}
xref: SCTID:134154009 {source="DOID:3892"}
xref: SCTID:189586007 {source="DOID:3892"}
xref: SCTID:25324008 {source="DOID:3892", source="EFO:0000549"}
xref: SCTID:76345009 {source="DOID:3892"}
is_a: MONDO:0019954 {source="NCIT:C3140", source="Orphanet:97279", source="Orphanet:97279/inferred"} ! pancreatic neuroendocrine tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6281" xsd:anyURI

[Term]
id: MONDO:0005049
name: obsolete intracranial hemorrhage
def: "OBSOLETE. Bleeding within the cranium." [NCIT:P378]
xref: ICD9:432.9 {source="EFO:0000551"}
xref: MESH:D020300 {source="MONDO:obsoleteEquivalent", source="EFO:0000551"}
xref: NCIT:C34463 {source="MONDO:relatedTo", source="EFO:0000551"}
xref: NCIT:C50438 {source="EFO:0000551", source="MONDO:otherHierarchy"}
xref: SCTID:105629000 {source="MONDO:relatedTo", source="EFO:0000551"}
xref: SCTID:1386000 {source="EFO:0000551"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: HP:0002170

[Term]
id: MONDO:0005050
name: invasive ductal and lobular carcinoma
def: "An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." [NCIT:C7688]
subset: otar {source="MONDO:OTAR"}
synonym: "infiltrating ductal and lobular carcinoma" EXACT [NCIT:C7688]
synonym: "invasive duct and lobular carcinoma" EXACT [NCIT:C7688]
synonym: "invasive ductal and lobular carcinoma" EXACT [NCIT:C7688]
xref: EFO:0000552 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8522/3 {source="NCIT:C7688"}
xref: MEDGEN:235231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7688 {source="EFO:0000552", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334277 {source="MEDGEN:235231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004953 {source="EFO:0000552"} ! invasive ductal breast carcinoma
is_a: MONDO:0006306 {source="MONDO:Redundant", source="NCIT:C7688"} ! mixed lobular and ductal breast carcinoma
intersection_of: MONDO:0006306 ! mixed lobular and ductal breast carcinoma
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0005051
name: invasive lobular breast carcinoma
def: "An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." [NCIT:C7950]
subset: otar {source="MONDO:OTAR"}
synonym: "breast invasive lobular carcinoma" RELATED [ONCOTREE:ILC]
synonym: "classic invasive lobular carcinoma" EXACT [NCIT:C7950]
synonym: "infiltrating lobular adenocarcinoma" EXACT [NCIT:C7950]
synonym: "infiltrating lobular breast carcinoma" EXACT [NCIT:C7950]
synonym: "infiltrating lobular carcinoma of breast" EXACT [NCIT:C7950]
synonym: "infiltrating lobular carcinoma of the breast" EXACT [NCIT:C7950]
synonym: "invasive lobular adenocarcinoma" EXACT [NCIT:C7950]
synonym: "invasive lobular breast carcinoma" EXACT [NCIT:C7950]
synonym: "invasive lobular carcinoma" EXACT [NCIT:C7950]
synonym: "invasive lobular carcinoma of breast" EXACT [NCIT:C7950]
synonym: "invasive lobular carcinoma of the breast" EXACT [NCIT:C7950]
synonym: "invasive lobular carcinoma, classic type" EXACT [NCIT:C7950]
synonym: "lobular carcinoma" BROAD [DOID:3457]
synonym: "lobular carcinoma (morphologic abnormality)" BROAD [DOID:3457]
synonym: "lobular carcinoma NOS (morphologic abnormality)" BROAD [DOID:3457]
synonym: "lobular carcinoma of breast" RELATED EXCLUDE [DOID:3457]
synonym: "lobular carcinoma of the breast" BROAD [DOID:3457]
xref: DOID:3457 {source="MONDO:equivalentTo", source="EFO:0000553"}
xref: EFO:0000553 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:75994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018275 {source="DOID:3457", source="EFO:0000553"}
xref: NCIT:C3771 {source="DOID:3457"}
xref: NCIT:C7950 {source="MONDO:equivalentTo", source="EFO:0000553"}
xref: ONCOTREE:ILC {source="MONDO:equivalentTo"}
xref: SCTID:189713007 {source="DOID:3457"}
xref: SCTID:278054005 {source="DOID:3457", source="EFO:0000553"}
xref: SCTID:89740008 {source="DOID:3457", source="EFO:0000553"}
xref: UMLS:C0279565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75994"}
is_a: MONDO:0000552 {source="DOID:3457", source="MONDO:Redundant", source="NCIT:C7950"} ! breast lobular carcinoma
is_a: MONDO:0006256 {source="MONDO:Redundant", source="NCIT:C7950", source="ONCOTREE:ILC"} ! invasive breast carcinoma
intersection_of: MONDO:0000552 ! breast lobular carcinoma
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0005052
name: irritable bowel syndrome
def: "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two)." [https://orcid.org/0000-0002-0736-9199, PMID:2174034, PMID:28657875]
subset: otar {source="MONDO:OTAR"}
synonym: "IBD" EXACT ABBREVIATION [DOID:9778]
synonym: "IBS" EXACT ABBREVIATION [NCIT:C82343]
synonym: "irritable bowel syndrome" EXACT [NCIT:C82343]
synonym: "irritable colon" EXACT [DOID:9778, NCIT:C82343]
synonym: "mucus colitis" EXACT [NCIT:C82343]
synonym: "psychogenic IBS" RELATED [DOID:9778]
synonym: "spastic colon" EXACT [NCIT:C82343]
xref: DOID:9778 {source="MONDO:equivalentTo", source="EFO:0000555"}
xref: EFO:0000555 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K58 {source="DOID:9778", source="MONDO:equivalentTo"}
xref: ICD10CM:K58.9 {source="DOID:9778"}
xref: ICD9:564.1 {source="DOID:9778", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000555"}
xref: MEDGEN:5897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D043183 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555"}
xref: NCIT:C82343 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555"}
xref: SCTID:10743008 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555"}
xref: SCTID:155783000 {source="DOID:9778"}
xref: SCTID:192434000 {source="DOID:9778"}
xref: SCTID:197124009 {source="DOID:9778"}
xref: SCTID:266525002 {source="DOID:9778"}
xref: UMLS:C0022104 {source="MONDO:equivalentTo", source="MEDGEN:5897", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:9778", source="NCIT:C82343"} ! syndromic disease
is_a: MONDO:0005020 {source="EFO:0000555", source="MESH:D043183/inferred", source="NCIT:C82343/inferred"} ! intestinal disorder

[Term]
id: MONDO:0005053
name: ischemic disease
def: "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation." [NCIT:C34738]
comment: Editor note: represented as a finding in other ontologies
subset: otar {source="MONDO:OTAR"}
synonym: "ischemia" RELATED [DOID:326, NCIT:C34738]
xref: DOID:326 {source="MONDO:equivalentTo", source="EFO:0000556"}
xref: MEDGEN:5899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007511 {source="DOID:326", source="MONDO:equivalentTo", source="EFO:0000556"}
xref: MESH:D054058 {source="DOID:326", source="MONDO:relatedTo"}
xref: NCIT:C34738 {source="DOID:326", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000556"}
xref: SCTID:52674009 {source="DOID:326", source="MONDO:equivalentTo", source="EFO:0000556"}
xref: UMLS:C0022116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5899"}
is_a: MONDO:0005385 {source="DOID:326"} ! vascular disorder
relationship: disease_disrupts GO:0008015 ! blood circulation

[Term]
id: MONDO:0005054
name: obsolete juvenile dermatomyositis
is_obsolete: true
replaced_by: MONDO:0008054

[Term]
id: MONDO:0005055
name: Kaposi's sarcoma
def: "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." [NCIT:P378]
subset: gard_rare {source="GARD:6814", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33276"}
subset: orphanet_rare {source="Orphanet:33276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "African lymphadenopathic Kaposi's sarcoma" RELATED [DOID:8632]
synonym: "anal Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "cardiac Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "central nervous system Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "conjunctival Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "corneal Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "cutaneous Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "esophageal Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "gallbladder Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "gastric Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "HHV8" RELATED ABBREVIATION [GARD:0006814]
synonym: "human herpesvirus 8" RELATED [GARD:0006814]
synonym: "intestinal Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "Kaposi sarcoma" EXACT [DOID:8632, MONDO:0018049, NCIT:C9087]
synonym: "Kaposi sarcoma herpesvirus" RELATED [GARD:0006814]
synonym: "Kaposi's sarcoma" EXACT [MONDO:ambiguous, NCIT:C9087]
synonym: "Kaposi's sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Kaposi's sarcoma of anus" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of central nervous system" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of conjunctiva" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of cornea" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of esophagus" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of gastrointestinal sites" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of heart" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of lung" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of lymph nodes" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of oesophagus" NARROW OMO:0003005 []
synonym: "Kaposi's sarcoma of palate" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of penis" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of skin" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of soft tissue" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of soft tissues" EXACT [DOID:8632]
synonym: "Kaposi's sarcoma of the CNS" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of the gallbladder" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma of the prostate" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma, lung" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma, skin" NARROW [DOID:8632]
synonym: "Kaposi's sarcoma-associated herpesvirus (KSHV)" RELATED [DOID:8632]
synonym: "KS" EXACT ABBREVIATION [NCIT:C9087]
synonym: "KSHV" RELATED ABBREVIATION [GARD:0006814]
synonym: "lymph node Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "lymphadenopathic Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "Mediterranean Kaposi sarcoma" RELATED [GARD:0006814]
synonym: "multiple hemorrhagic sarcoma" NARROW [NCIT:C9087]
synonym: "non AIDS related Kaposi sarcoma" RELATED [GARD:0006814]
synonym: "palate Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "penis Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "prostate Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "pulmonary Kaposi's sarcoma" NARROW [DOID:8632]
synonym: "soft tissue Kaposi's sarcoma" NARROW [DOID:8632]
xref: DOID:8632 {source="MONDO:equivalentTo", source="EFO:0000558"}
xref: EFO:0000558 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6814 {source="MONDO:GARD"}
xref: HP:0100726 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C46.0 {source="Orphanet:33276/btnt", source="Orphanet:33276"}
xref: ICD10CM:C46.1 {source="Orphanet:33276/btnt", source="Orphanet:33276"}
xref: ICD10CM:C46.2 {source="Orphanet:33276/btnt", source="Orphanet:33276"}
xref: ICD10CM:C46.3 {source="Orphanet:33276/btnt", source="Orphanet:33276"}
xref: ICD10CM:C46.7 {source="Orphanet:33276/btnt", source="Orphanet:33276"}
xref: ICD10CM:C46.9 {source="Orphanet:33276/btnt", source="Orphanet:33276"}
xref: ICD9:176 {source="DOID:8632", source="EFO:0000558"}
xref: ICD9:176.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:176.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9140/3 {source="NCIT:C9087"}
xref: MedDRA:10023284 {source="Orphanet:33276/e", source="Orphanet:33276"}
xref: MEDGEN:11321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012514 {source="DOID:8632", source="Orphanet:33276/e", source="MONDO:equivalentTo", source="Orphanet:33276"}
xref: NCIT:C9087 {source="DOID:8632", source="MONDO:equivalentTo", source="EFO:0000558"}
xref: Orphanet:33276 {source="MONDO:equivalentTo"}
xref: SCTID:109385007 {source="MONDO:equivalentTo"}
xref: SCTID:49937004 {source="DOID:8632", source="EFO:0000558"}
xref: UMLS:C0036220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11321"}
is_a: MONDO:0002095 {source="MESH:D012514", source="NCIT:C9087"} ! vascular cancer
is_a: MONDO:0015157 {source="Orphanet:33276"} ! human herpesvirus 8-related tumor
is_a: MONDO:0018078 {source="NCIT:C9087/inferred", source="Orphanet:33276"} ! soft tissue sarcoma
is_a: MONDO:0024296 {source="MONDO:Redundant", source="Orphanet:33276"} ! vascular neoplasm
relationship: disease_has_infectious_agent NCBITaxon:37296 ! Human gammaherpesvirus 8
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:8632", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete connective tissue cancer
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: IAO:0000589 "Kaposi's sarcoma (disease)" xsd:string

[Term]
id: MONDO:0005056
name: keratinizing squamous cell carcinoma
def: "Squamous cell carcinomas with morphologically prominent production of keratin." [NCIT:C4105]
subset: otar {source="MONDO:OTAR"}
synonym: "keratinizing epidermoid carcinoma" EXACT [DOID:5521]
synonym: "keratinizing squamous cell carcinoma" EXACT [DOID:5521, NCIT:C4105]
synonym: "squamous cell carcinoma, keratinizing" EXACT [DOID:5521]
synonym: "squamous cell carcinoma, keratinizing (morphologic abnormality)" EXACT [DOID:5521]
xref: DOID:5521 {source="MONDO:equivalentTo", source="EFO:0000559"}
xref: EFO:0000559 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8071/3 {source="NCIT:C4105"}
xref: MEDGEN:137730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4105 {source="DOID:5521", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0000559"}
xref: SCTID:18048008 {source="DOID:5521", source="EFO:0000559"}
xref: SCTID:189568009 {source="DOID:5521"}
xref: UMLS:C0334247 {source="MEDGEN:137730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:5521", source="EFO:0000559", source="NCIT:C4105"} ! squamous cell carcinoma

[Term]
id: MONDO:0005057
name: large cell neuroendocrine carcinoma
def: "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." [NCIT:C6875]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "large cell NEC" EXACT [NCIT:C6875]
synonym: "large cell neuroendocrine carcinoma" EXACT [NCIT:C6875]
synonym: "large-cell neuroendocrine carcinoma" EXACT [NCIT:C6875]
synonym: "LCNEC" EXACT ABBREVIATION [NCIT:C6875]
xref: DOID:0050872 {source="EFO:0000563", source="MONDO:equivalentTo"}
xref: EFO:0000563 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8013/3 {source="NCIT:C6875"}
xref: MEDGEN:220402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6875 {source="EFO:0000563", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:LUNE {source="MONDO:equivalentTo"}
xref: SCTID:128628002 {source="EFO:0000563"}
xref: UMLS:C1265996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220402"}
is_a: MONDO:0002120 {source="MONDO:Redundant", source="NCIT:C6875"} ! neuroendocrine carcinoma
is_a: MONDO:0005151 {source="EFO:0000563/inferred", source="MONDO:Redundant", source="NCIT:C6875/inferred"} ! endocrine system disorder
is_a: MONDO:0005232 {source="DOID:0050872/inferred", source="MONDO:Redundant", source="NCIT:C6875"} ! large cell carcinoma
intersection_of: MONDO:0002120 {source="NCIT:C6875"} ! neuroendocrine carcinoma
intersection_of: MONDO:0005232 {source="NCIT:C6875"} ! large cell carcinoma
relationship: disease_has_location UBERON:0000949 {source="EFO:0000784"} ! endocrine system

[Term]
id: MONDO:0005058
name: leiomyosarcoma
def: "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." [NCIT:C3158]
subset: gard_rare {source="GARD:6880", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1356"}
subset: ordo_disorder {source="Orphanet:64720"}
subset: orphanet_rare {source="Orphanet:64720"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leiomyosarcoma" EXACT [NCIT:C3158]
synonym: "leiomyosarcoma (excluding uterine leiomyosarcoma)" EXACT [NCIT:C3158]
synonym: "leiomyosarcoma - not uterine" EXACT [NCIT:C3158]
synonym: "leiomyosarcoma, malignant" EXACT [NCIT:C3158]
synonym: "Leiomyosarcomas" EXACT [DOID:1967, NCIT:C3158]
xref: DOID:1967 {source="MONDO:equivalentTo", source="EFO:0000564"}
xref: EFO:0000564 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6880 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:64720", source="Orphanet:64720/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8890/3 {source="NCIT:C3158"}
xref: MedDRA:10024189 {source="Orphanet:64720", source="Orphanet:64720/e"}
xref: MEDGEN:9711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007890 {source="Orphanet:64720", source="MONDO:equivalentTo", source="EFO:0000564", source="Orphanet:64720/e", source="DOID:1967"}
xref: NANDO:2200064 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3158 {source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"}
xref: NORD:1356 {source="MONDO:NORD"}
xref: ONCOTREE:LMS {source="MONDO:equivalentTo"}
xref: Orphanet:64720 {source="MONDO:equivalentTo"}
xref: SCTID:189790006 {source="DOID:1967"}
xref: SCTID:443719001 {source="MONDO:equivalentTo", source="EFO:0000564", source="DOID:1967"}
xref: SCTID:51549004 {source="EFO:0000564", source="DOID:1967"}
xref: UMLS:C0023269 {source="MEDGEN:9711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002924 {source="DOID:1967", source="NCIT:C3158"} ! smooth muscle cancer
is_a: MONDO:0005089 {source="EFO:0000564", source="MESH:D007890", source="MONDO:Redundant", source="NCIT:C3158"} ! sarcoma
is_a: MONDO:0017345 {source="Orphanet:64720"} ! Epstein-Barr virus-associated mesenchymal tumor
is_a: MONDO:0018078 {source="Orphanet:64720"} ! soft tissue sarcoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma" xsd:anyURI {source="GARD:0006880"}

[Term]
id: MONDO:0005059
name: leukemia
def: "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years." [NCIT:C3161]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blood (leukemia)" EXACT [NCIT:C3161]
synonym: "leukaemia (disease)" EXACT OMO:0003005 []
synonym: "leukaemia NOS" RELATED OMO:0003005 []
synonym: "leukemia" EXACT [MONDO:ambiguous, NCIT:C3161]
synonym: "leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "leukemia NOS" RELATED EXCLUDE [NCIT:C3161]
synonym: "leukemia, disease" EXACT [NCIT:C3161]
synonym: "leukemia, malignant" EXACT [NCIT:C3161]
synonym: "leukemia, NOS" RELATED EXCLUDE [NCIT:C3161]
synonym: "leukemias" EXACT [NCIT:C3161]
synonym: "leukemias, general" EXACT [NCIT:C3161]
xref: DOID:1240 {source="EFO:0000565", source="MONDO:equivalentTo"}
xref: EFO:0000565 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001909 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C95 {source="DOID:1240"}
xref: ICD10CM:C95.9 {source="DOID:1240"}
xref: ICD10CM:C95.90 {source="DOID:1240"}
xref: ICD9:207 {source="EFO:0000565"}
xref: ICD9:207.8 {source="EFO:0000565"}
xref: ICD9:207.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:208 {source="DOID:1240", source="EFO:0000565"}
xref: ICD9:208.8 {source="EFO:0000565"}
xref: ICD9:208.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:208.9 {source="DOID:1240", source="EFO:0000565"}
xref: ICD9:208.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9800/3 {source="NCIT:C3161"}
xref: MEDGEN:9725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007938 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo"}
xref: NANDO:2100002 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3161 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo"}
xref: SCTID:154598008 {source="DOID:1240"}
xref: SCTID:188762002 {source="DOID:1240"}
xref: SCTID:188767008 {source="DOID:1240"}
xref: SCTID:190024009 {source="DOID:1240"}
xref: SCTID:190025005 {source="DOID:1240"}
xref: SCTID:190029004 {source="DOID:1240"}
xref: SCTID:190071003 {source="DOID:1240"}
xref: SCTID:255049003 {source="DOID:1240"}
xref: SCTID:87163000 {source="DOID:1240", source="EFO:0000565"}
xref: SCTID:93143009 {source="DOID:1240", source="EFO:0000565", source="MONDO:equivalentTo"}
xref: UMLS:C0023418 {source="MONDO:equivalentTo", source="MEDGEN:9725", source="MONDO:MEDGEN"}
is_a: MONDO:0044881 {source="NCIT:C3161"} ! hematopoietic and lymphoid cell neoplasm
relationship: disease_has_feature HP:0002321 {source="MONDO:Wikidata"} ! Vertigo
relationship: excluded_subClassOf MONDO:0005157 {source="EFO:0000565", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoid neoplasm
property_value: IAO:0000589 "leukemia (disease)" xsd:string

[Term]
id: MONDO:0005060
name: liposarcoma
def: "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." [NCIT:C3194]
subset: gard_rare {source="GARD:6913", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1925", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69078"}
subset: orphanet_rare {source="Orphanet:69078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lip sarcoma" EXACT [MONDO:patterns/location]
synonym: "liposarcoma" EXACT [NCIT:C3194]
synonym: "liposarcoma not otherwise specified" RELATED EXCLUDE [NCIT:C3194]
synonym: "liposarcoma, malignant" EXACT [NCIT:C3194]
synonym: "sarcoma of lip" EXACT [MONDO:patterns/sarcoma]
xref: DOID:3382 {source="MONDO:equivalentTo", source="EFO:0000569"}
xref: EFO:0000569 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6913 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:69078/ntbt", source="Orphanet:69078"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8850/3 {source="NCIT:C3194"}
xref: MedDRA:10024627 {source="Orphanet:69078/e", source="Orphanet:69078"}
xref: MEDGEN:44177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008080 {source="Orphanet:69078/e", source="MONDO:equivalentTo", source="EFO:0000569", source="Orphanet:69078", source="DOID:3382"}
xref: NANDO:2200065 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3194 {source="MONDO:equivalentTo", source="EFO:0000569", source="DOID:3382"}
xref: NORD:1925 {source="MONDO:NORD"}
xref: ONCOTREE:LIPO {source="MONDO:equivalentTo"}
xref: Orphanet:69078 {source="MONDO:equivalentTo"}
xref: SCTID:189777004 {source="DOID:3382"}
xref: SCTID:254829001 {source="MONDO:equivalentTo", source="EFO:0000569", source="DOID:3382"}
xref: SCTID:49430005 {source="EFO:0000569", source="DOID:3382"}
xref: UMLS:C0023827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44177"}
is_a: MONDO:0002813 {source="DOID:3382", source="MONDO:Redundant", source="NCIT:C3194"} ! lipomatous cancer
is_a: MONDO:0005089 {source="DOID:3382", source="EFO:0000569", source="MESH:D008080", source="MONDO:Redundant", source="NCIT:C3194"} ! sarcoma
is_a: MONDO:0018078 {source="Orphanet:69078"} ! soft tissue sarcoma
is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C3194/inferred"} ! tumor of adipose tissue
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_arises_from_structure UBERON:0001013 ! adipose tissue
relationship: disease_has_location UBERON:0001013 {source="EFO:0000784"} ! adipose tissue
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6913/liposarcoma" xsd:anyURI {source="GARD:0006913"}

[Term]
id: MONDO:0005061
name: lung adenocarcinoma
def: "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor." [NCIT:C3512]
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of lung" EXACT [DOID:3910, NCIT:C3512]
synonym: "adenocarcinoma of the lung" EXACT [NCIT:C3512]
synonym: "bronchogenic lung adenocarcinoma" EXACT [DOID:3910]
synonym: "lung adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C3512]
synonym: "non-small cell lung adenocarcinoma" EXACT [MONDO:0005474]
synonym: "nonsmall cell adenocarcinoma" EXACT [DOID:3910]
xref: DOID:3910 {source="EFO:0005288", source="EFO:0000571", source="MONDO:equivalentTo"}
xref: EFO:0000571 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:57744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538231 {source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"}
xref: NCIT:C27745 {source="DOID:3910"}
xref: NCIT:C3512 {source="EFO:0005288", source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"}
xref: ONCOTREE:LUAD {source="MONDO:equivalentTo"}
xref: Orphanet:415268 {source="MONDO:equivalentObsolete"}
xref: SCTID:254626006 {source="EFO:0000571", source="MONDO:equivalentTo", source="DOID:3910"}
xref: UMLS:C0152013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57744"}
is_a: MONDO:0004970 {source="DOID:3910", source="EFO:0005288", source="MESH:C538231", source="MONDO:Redundant", source="NCIT:C3512/inferred"} ! adenocarcinoma
is_a: MONDO:0005233 {source="DOID:3910", source="EFO:0005288", source="NCIT:C3512", source="ONCOTREE:LUAD"} ! non-small cell lung carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma" xsd:anyURI {source="GARD:0005742"}

[Term]
id: MONDO:0005062
name: lymphoma
def: "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." [NCIT:C3208]
comment: This is potentially too broad as well as overlaps with leukemia and should be obsoleted. {source="EFO:0000574"}
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:223735"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoid cancer" EXACT [DOID:0060058]
synonym: "lymphoma" EXACT [MONDO:0016389, NCIT:C3208]
synonym: "lymphoma (Hodgkin and non-Hodgkin)" EXACT [NCIT:C3208]
synonym: "lymphoma (Hodgkin's and non-Hodgkin's)" EXACT [NCIT:C3208]
synonym: "lymphoma, malignant" EXACT [NCIT:C3208]
synonym: "lymphoma, NOS" RELATED EXCLUDE [NCIT:C3208]
synonym: "lymphomatous" EXACT [NCIT:C3208]
synonym: "malignant lymphoma" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C3208]
synonym: "MLYM" RELATED ABBREVIATION [ONCOTREE:MLYM]
xref: DOID:0060058 {source="EFO:0000574", source="MONDO:equivalentTo"}
xref: EFO:0000574 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C85.9 {source="DOID:0060058"}
xref: ICD9:200.0 {source="EFO:0000574"}
xref: ICD9:200.1 {source="EFO:0000574"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9590/3 {source="NCIT:C3208"}
xref: MedDRA:10025310 {source="Orphanet:223735", source="Orphanet:223735/e"}
xref: MEDGEN:44223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008223 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo", source="Orphanet:223735", source="Orphanet:223735/e"}
xref: NANDO:2100004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3208 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo"}
xref: NCIT:C7065 {source="DOID:0060058"}
xref: ONCOTREE:MLYM {source="MONDO:equivalentTo"}
xref: Orphanet:223735 {source="MONDO:equivalentTo"}
xref: SCTID:115244002 {source="DOID:0060058"}
xref: SCTID:118600007 {source="EFO:0000574", source="DOID:0060058", source="MONDO:equivalentTo"}
xref: SCTID:134218000 {source="DOID:0060058"}
xref: SCTID:188498009 {source="EFO:0000574"}
xref: SCTID:188676008 {source="DOID:0060058"}
xref: SCTID:188694002 {source="DOID:0060058"}
xref: SCTID:188695001 {source="DOID:0060058"}
xref: SCTID:188704004 {source="DOID:0060058"}
xref: SCTID:189959002 {source="DOID:0060058"}
xref: SCTID:189965002 {source="DOID:0060058"}
xref: SCTID:21964009 {source="EFO:0000574", source="DOID:0060058"}
xref: SCTID:269627002 {source="DOID:0060058"}
xref: SCTID:373168002 {source="MONDO:relatedTo", source="EFO:0000574"}
xref: SCTID:414628006 {source="DOID:0060058"}
xref: UMLS:C0024299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44223"}
is_a: MONDO:0002334 {source="DOID:0060058", source="NCIT:C3208/inferred"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0005157 {source="EFO:0000574", source="NCIT:C3208"} ! lymphoid neoplasm
is_a: MONDO:0015757 {source="Orphanet:223735"} ! lymphoid hemopathy

[Term]
id: MONDO:0005063
name: medullary breast carcinoma
def: "An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent." [NCIT:C9119]
subset: otar {source="MONDO:OTAR"}
synonym: "breast medullary carcinoma" RELATED [DOID:5605]
synonym: "infiltrating medullary carcinoma of breast" EXACT [NCIT:C9119]
synonym: "infiltrating medullary carcinoma of the breast" EXACT [NCIT:C9119]
synonym: "invasive medullary breast carcinoma" EXACT [NCIT:C9119]
synonym: "invasive medullary carcinoma of breast" EXACT [NCIT:C9119]
synonym: "invasive medullary carcinoma of the breast" EXACT [NCIT:C9119]
synonym: "medullary breast cancer" EXACT [NCIT:C9119]
synonym: "medullary breast carcinoma" EXACT [NCIT:C9119]
synonym: "medullary breast carcinoma with lymphoid Stroma" EXACT [DOID:5605, NCIT:C9119]
synonym: "medullary carcinoma of breast" EXACT [DOID:5605, NCIT:C9119]
synonym: "medullary carcinoma of the breast" EXACT [NCIT:C9119]
xref: DOID:5605 {source="EFO:0000580", source="MONDO:equivalentTo"}
xref: EFO:0000580 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8512/3 {source="NCIT:C9119"}
xref: MEDGEN:163568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9119 {source="EFO:0000580", source="MONDO:equivalentTo", source="DOID:5605", source="MONDO:exact-label-match"}
xref: UMLS:C0860580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163568"}
is_a: MONDO:0004988 {source="DOID:5605", source="MONDO:Redundant", source="NCIT:C9119/inferred"} ! breast adenocarcinoma
is_a: MONDO:0005590 {source="NCIT:C9119"} ! breast ductal adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C9119"} ! invasive breast carcinoma

[Term]
id: MONDO:0005064
name: obsolete infectious meningitis
is_obsolete: true
replaced_by: MONDO:0004796

[Term]
id: MONDO:0005065
name: mesothelioma
def: "A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." [NCIT:C3234]
subset: otar {source="MONDO:OTAR"}
synonym: "mesothelioma" EXACT [NCIT:C3234]
xref: EFO:0000588 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C45 {source="MONDO:equivalentTo"}
xref: MEDGEN:9975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008654 {source="MONDO:equivalentTo", source="EFO:0000588"}
xref: NCIT:C3234 {source="MONDO:equivalentTo", source="EFO:0000588", source="MONDO:exact-label-match"}
xref: SCTID:62064005 {source="EFO:0000588"}
xref: UMLS:C0025500 {source="MEDGEN:9975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006856 {source="EFO:0000588", source="MESH:D008654", source="NCIT:C3234"} ! mesothelial neoplasm

[Term]
id: MONDO:0005066
name: metabolic disease
def: "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." [NCIT:C3235]
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of metabolism" RELATED [DOID:0014667]
synonym: "disorder of metabolic process" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "metabolic disease" EXACT [DOID:0014667, NCIT:C3235]
synonym: "metabolic disorder" EXACT [NCIT:C3235]
synonym: "metabolic process disease" EXACT [MONDO:design_pattern]
xref: DOID:0014667 {source="MONDO:equivalentTo", source="EFO:0000589"}
xref: EFO:0000589 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E00-E89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:E70-E88 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:E88.9 {source="DOID:0014667"}
xref: ICD10CM:P70-P74 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10WHO:E70-E90 {source="MONDO:equivalentTo"}
xref: ICD9:277.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:277.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000589", source="DOID:0014667"}
xref: MEDGEN:44376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008659 {source="MONDO:equivalentTo", source="EFO:0000589", source="DOID:0014667"}
xref: NANDO:1100002 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3235 {source="MONDO:equivalentTo", source="EFO:0000589", source="DOID:0014667"}
xref: SCTID:154733004 {source="DOID:0014667"}
xref: SCTID:190961002 {source="DOID:0014667"}
xref: SCTID:267456000 {source="DOID:0014667"}
xref: SCTID:30390004 {source="DOID:0014667"}
xref: SCTID:75934005 {source="MONDO:equivalentTo", source="EFO:0000589", source="DOID:0014667"}
xref: UMLS:C0025517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44376"}
is_a: MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/3155", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_basis_in_disruption_of GO:0008152 ! metabolic process

[Term]
id: MONDO:0005067
name: monophasic synovial sarcoma
def: "A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." [NCIT:C6534]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "monophasic sarcoma of synovium" EXACT [DOID:5495, NCIT:C6534]
synonym: "monophasic sarcoma of the synovium" EXACT [NCIT:C6534]
synonym: "monophasic synovial sarcoma" EXACT [NCIT:C6534]
xref: DOID:5495 {source="EFO:0000595", source="MONDO:equivalentTo"}
xref: EFO:0000595 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6534 {source="EFO:0000595", source="MONDO:equivalentTo", source="DOID:5495"}
xref: UMLS:C1334801 {source="MEDGEN:233719", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010434 {source="DOID:5495", source="EFO:0000595", source="NCIT:C6534"} ! synovial sarcoma

[Term]
id: MONDO:0005068
name: myocardial infarction
def: "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." [NCIT:C27996]
subset: otar {source="MONDO:OTAR"}
synonym: "heart attack" EXACT [DOID:5844]
synonym: "infarction (MI), myocardial" EXACT [NCIT:C27996]
synonym: "MI" EXACT ABBREVIATION [NCIT:C27996]
synonym: "MI, myocardial infarction" EXACT [NCIT:C27996]
synonym: "myocardial infarct" EXACT [DOID:5844]
synonym: "myocardial infarction" EXACT [MONDO:ambiguous]
synonym: "myocardial infarction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "myocardial infarction, (MI)" EXACT [NCIT:C27996]
xref: DOID:5844 {source="MONDO:equivalentTo", source="EFO:0000612"}
xref: EFO:0000612 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001658 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I21 {source="https://doi.org/10.1186/1472-6963-13-468", source="MONDO:equivalentTo", source="DOID:5844"}
xref: ICD10CM:I22 {source="DOID:5844"}
xref: MEDGEN:10150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009203 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612"}
xref: NANDO:2200248 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27996 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612"}
xref: SCTID:155304006 {source="DOID:5844"}
xref: SCTID:194796000 {source="DOID:5844"}
xref: SCTID:22298006 {source="MONDO:equivalentTo", source="DOID:5844", source="EFO:0000612"}
xref: SCTID:233824008 {source="DOID:5844"}
xref: SCTID:266288001 {source="DOID:5844"}
xref: SCTID:66514008 {source="DOID:5844"}
xref: UMLS:C0027051 {source="MONDO:equivalentTo", source="MEDGEN:10150", source="MONDO:MEDGEN"}
is_a: MONDO:0024643 {source="NCIT:C27996"} ! myocardial disorder
relationship: disease_has_feature HP:0001700 ! Myocardial necrosis
relationship: disease_has_location UBERON:0000948 {source="EFO:0000784"} ! heart
relationship: disease_has_location UBERON:0002349 ! myocardium
relationship: excluded_subClassOf MONDO:0005010 {source="DOID:5844", source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
property_value: IAO:0000589 "myocardial infarction (disease)" xsd:string

[Term]
id: MONDO:0005069
name: obsolete narcolepsy with cataplexy
is_obsolete: true
replaced_by: MONDO:0016158

[Term]
id: MONDO:0005070
name: neoplasm
def: "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." [NCIT:C3262]
subset: otar {source="MONDO:OTAR"}
synonym: "cell process disease" BROAD DUBIOUS [DOID:14566]
synonym: "disease of cellular proliferation" EXACT [MONDO:0002001]
synonym: "neoplasia" EXACT [NCIT:C3262]
synonym: "neoplasm" EXACT [DOID:14566, MONDO:ambiguous, NCIT:C3262]
synonym: "neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "neoplastic disease" EXACT [NCIT:C3262]
synonym: "neoplastic growth" EXACT [NCIT:C3262]
synonym: "other neoplasm" NARROW [NCIT:C3262]
synonym: "tumor" EXACT [NCIT:C3262]
synonym: "tumor disease" EXACT []
synonym: "tumour" EXACT OMO:0003005 []
synonym: "tumour disease" EXACT OMO:0003005 []
xref: DOID:14566 {source="MONDO:equivalentTo"}
xref: EFO:0000616 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002664 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C00-D49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:C30-C39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:C7A-C7A {source="MONDO:mondoIsBroaderThanSource"}
xref: ICD10CM:C7B-C7B {source="MONDO:mondoIsBroaderThanSource"}
xref: ICD10CM:D00-D09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D37-D48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D49-D49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:140-239.99 {source="EFO:0000616"}
xref: ICD9:239.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:239.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009369 {source="MONDO:equivalentTo", source="EFO:0000616"}
xref: NCIT:C17649 {source="ONCOTREE:OTHER"}
xref: NCIT:C3262 {source="MONDO:equivalentTo", source="EFO:0000616"}
xref: ONCOTREE:OTHER
xref: SCTID:108369006 {source="EFO:0000616"}
xref: SCTID:55342001 {source="MONDO:equivalentTo"}
xref: UMLS:C0027651 {source="MEDGEN:10294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0023370 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! neoplastic disease or syndrome
disjoint_from: MONDO:0024291 ! vascular malformation
relationship: disease_disrupts GO:0008283 ! cell population proliferation
property_value: IAO:0000589 "neoplasm (disease)" xsd:string

[Term]
id: MONDO:0005071
name: nervous system disorder
def: "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." [NCIT:C26835]
comment: 'psychiatric disorder' is not classified as a 'nervous system disorder' in Mondo (though it is often as such): the hallmarks of psychiatric disorders are based in behavior and emotional state, and the relation with nervous system malfunction or damage is not always clearly determined.
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nervous system" EXACT []
synonym: "disorder of nervous system" EXACT [MONDO:patterns/location_top, NCIT:C26835]
synonym: "nervous system disease" EXACT [MONDO:patterns/location]
synonym: "nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nervous system disorder" EXACT [NCIT:C26835]
synonym: "neurologic disease" EXACT [DOID:863]
synonym: "neurologic disorder" EXACT [DOID:863, ISBN-13:978-1-259-64403-0, NCIT:C26835]
synonym: "neurological disease" EXACT [DOID:863]
synonym: "neurological disorder" EXACT [DOID:863]
xref: DOID:863 {source="EFO:0000618", source="MONDO:equivalentTo"}
xref: EFO:0000618 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G00-G09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G00-G99 {source="DOID:863", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G89-G99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G98 {source="DOID:863"}
xref: ICD10CM:G98.8 {source="DOID:863"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:349.9 {source="DOID:863", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009422 {source="DOID:863", source="MONDO:equivalentTo"}
xref: NCIT:C26835 {source="DOID:863", source="MONDO:equivalentTo", source="NCIT:C26835"}
xref: NCIT:C2934 {source="EFO:0000618"}
xref: SCTID:118940003 {source="DOID:863", source="MONDO:equivalentTo"}
xref: SCTID:154981003 {source="DOID:863"}
xref: SCTID:155262005 {source="DOID:863"}
xref: SCTID:192641002 {source="DOID:863"}
xref: SCTID:267679005 {source="DOID:863"}
xref: SCTID:286946008 {source="DOID:863"}
xref: UMLS:C0027765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14336"}
xref: Wikipedia:Nervous_system_disease {source="EFO:0000618"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0005072
name: neuroblastoma
def: "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system." [PMID:32903387]
comment: NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features.
subset: gard_rare {source="GARD:7185", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:635"}
subset: orphanet_rare {source="Orphanet:635"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NB" RELATED ABBREVIATION [GARD:0007185]
synonym: "neural Crest tumor, malignant" EXACT [NCIT:C3270]
synonym: "neuroblastoma" EXACT [NCIT:C3270]
synonym: "neuroblastoma (Schwannian Stroma-poor)" EXACT [DOID:769, NCIT:C3270]
synonym: "neuroblastoma, malignant" EXACT [NCIT:C3270]
xref: DOID:769 {source="MONDO:equivalentTo", source="EFO:0000621"}
xref: EFO:0000621 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7185 {source="MONDO:GARD"}
xref: ICD10CM:C74.9 {source="Orphanet:635/ntbt", source="Orphanet:635"}
xref: ICDO:9500/3 {source="NCIT:C3270"}
xref: MedDRA:10029260 {source="Orphanet:635", source="Orphanet:635/e"}
xref: MEDGEN:18012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536408 {source="Orphanet:635", source="Orphanet:635/e"}
xref: MESH:D009447 {source="DOID:769", source="Orphanet:635", source="MONDO:equivalentTo", source="EFO:0000621", source="Orphanet:635/e"}
xref: NANDO:2200040 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3270 {source="DOID:769", source="MONDO:equivalentTo", source="EFO:0000621"}
xref: NIFSTD:birnlex_12631 {source="EFO:0000621"}
xref: ONCOTREE:NBL {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="DOID:769", source="MONDO:equivalentTo"}
xref: SCTID:189931003 {source="DOID:769"}
xref: SCTID:269507008 {source="DOID:769"}
xref: SCTID:432328008 {source="DOID:769", source="MONDO:equivalentTo", source="EFO:0000621"}
xref: SCTID:87364003 {source="DOID:769", source="EFO:0000621"}
xref: UMLS:C0027819 {source="MEDGEN:18012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006316 {source="NCIT:C3270"} ! neuroblastic tumor
is_a: MONDO:0021635 {source="https://orcid.org/0000-0002-6601-2165"} ! neurocristopathy
relationship: disease_arises_from_structure CL:0000031 {source="NCIT:C3270"} ! neuroblast (sensu Vertebrata)
relationship: excluded_subClassOf MONDO:0002366 {source="DOID:769", source="https://orcid.org/0000-0001-5208-3432"} ! autonomic nervous system neoplasm
relationship: excluded_subClassOf MONDO:0016713 {source="Orphanet:635", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma" xsd:anyURI {source="GARD:0007185"}

[Term]
id: MONDO:0005073
name: melanocytic nevus
def: "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin." [NCIT:C7570]
subset: otar {source="MONDO:OTAR"}
synonym: "melanocytic Nevus" EXACT [NCIT:C7570]
synonym: "melanotic Nevus" EXACT [NCIT:C7570]
synonym: "mole" EXACT [NCIT:C7570]
synonym: "mole of skin" EXACT [NCIT:C7570]
synonym: "nevus" EXACT [NCIT:C7570]
xref: EFO:0009675 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:14364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009506 {source="MONDO:equivalentTo", source="EFO:0000625"}
xref: NCIT:C7570 {source="MONDO:equivalentTo"}
xref: SCTID:400096001 {source="MONDO:equivalentTo"}
xref: UMLS:C0027962 {source="MEDGEN:14364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Nevus {source="EFO:0000625"}
is_a: MONDO:0021143 {source="MESH:D009506", source="MONDO:Redundant", source="NCIT:C7570"} ! melanocytic neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_arises_from_structure CL:0000148 ! melanocyte
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0005074
name: papillary cystadenocarcinoma
def: "A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." [NCIT:C3777]
subset: otar {source="MONDO:OTAR"}
synonym: "cystadenocarcinoma, papillary, malignant" EXACT [NCIT:C3777]
synonym: "papillary cystadenocarcinoma" EXACT [DOID:3110, NCIT:C3777]
synonym: "papillary cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3110]
synonym: "papillary cystadenocarcinoma, NOS (morphologic abnormality)" EXACT [DOID:3110]
xref: DOID:3110 {source="MONDO:equivalentTo", source="EFO:0000639"}
xref: EFO:0000639 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8450/3 {source="NCIT:C3777"}
xref: MEDGEN:64635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018283 {source="DOID:3110", source="MONDO:equivalentTo", source="EFO:0000639"}
xref: NCIT:C3777 {source="DOID:3110", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0000639"}
xref: SCTID:189687009 {source="DOID:3110"}
xref: SCTID:2735009 {source="DOID:3110", source="EFO:0000639"}
xref: UMLS:C0206700 {source="MEDGEN:64635", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002512 {source="NCIT:C3777"} ! papillary adenocarcinoma
is_a: MONDO:0005596 {source="DOID:3110", source="MESH:D018283", source="NCIT:C3777"} ! cystadenocarcinoma
is_a: MONDO:0006349 {source="NCIT:C3777"} ! papillary cystic neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10162/papillary-cystadenocarcinoma" xsd:anyURI {source="GARD:0010162"}

[Term]
id: MONDO:0005075
name: thyroid gland papillary carcinoma
def: "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance." [NCIT:C4035]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "papillary cancer of the thyroid" EXACT [NCIT:C4035]
synonym: "papillary cancer of the thyroid gland" EXACT [NCIT:C4035]
synonym: "papillary cancer of thyroid" EXACT [NCIT:C4035]
synonym: "papillary cancer of thyroid gland" EXACT [NCIT:C4035]
synonym: "papillary carcinoma of the thyroid" EXACT [NCIT:C4035]
synonym: "papillary carcinoma of the thyroid gland" EXACT [DOID:3969, NCIT:C4035]
synonym: "papillary carcinoma of thyroid" EXACT [NCIT:C4035]
synonym: "papillary carcinoma of thyroid gland" EXACT [NCIT:C4035]
synonym: "papillary thyroid cancer" EXACT [NCIT:C4035]
synonym: "papillary thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C4035]
synonym: "papillary thyroid gland carcinoma" EXACT [NCIT:C4035]
synonym: "thyroid gland papillary cancer" EXACT [NCIT:C4035]
synonym: "thyroid gland papillary carcinoma" EXACT [NCIT:C4035]
synonym: "thyroid papillary carcinoma" EXACT [NCIT:C4035]
xref: DOID:3969 {source="MONDO:equivalentTo", source="EFO:0000641"}
xref: EFO:0000641 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002895 {source="MONDO:otherHierarchy"}
xref: MEDGEN:66773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536915 {source="DOID:3969"}
xref: NCIT:C2853 {source="EFO:0000641"}
xref: NCIT:C4035 {source="MONDO:equivalentTo", source="EFO:0000641", source="DOID:3969"}
xref: ONCOTREE:THPA {source="MONDO:equivalentTo"}
xref: SCTID:255029007 {source="MONDO:equivalentTo", source="EFO:0000641", source="DOID:3969"}
xref: SCTID:4797003 {source="DOID:3969"}
xref: UMLS:C0238463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66773"}
is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C4035"} ! papillary adenocarcinoma
is_a: MONDO:0015075 {source="DOID:3969", source="NCIT:C4035/inferred"} ! thyroid gland carcinoma
is_a: MONDO:0015447 {source="EFO:0000641", source="NCIT:C4035", source="ONCOTREE:THPA"} ! differentiated thyroid carcinoma
intersection_of: MONDO:0002512 ! papillary adenocarcinoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland
relationship: disease_has_location UBERON:0002046 {source="EFO:0000784"} ! thyroid gland

[Term]
id: MONDO:0005076
name: periodontitis
def: "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic pericementitis" EXACT [DOID:824]
synonym: "inflammation of periodontium" EXACT []
synonym: "periodontium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "periodontosis" RELATED DEPRECATED [DOID:9893, https://en.wikipedia.org/wiki/Periodontosis]
xref: DOID:824 {source="MONDO:equivalentTo", source="EFO:0000649"}
xref: DOID:9893 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:0000649 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K05.3 {source="DOID:824"}
xref: ICD10CM:K05.4 {source="MONDO:equivalentTo", source="DOID:9893"}
xref: ICD9:523.5 {source="DOID:9893"}
xref: MEDGEN:45815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010518 {source="DOID:824", source="MONDO:equivalentTo", source="EFO:0000649"}
xref: MESH:D010520 {source="MONDO:relatedTo", source="DOID:9893"}
xref: NCIT:C34918 {source="DOID:824", source="MONDO:equivalentTo", source="EFO:0000649"}
xref: SCTID:155648008 {source="DOID:824"}
xref: SCTID:266491004 {source="DOID:824"}
xref: SCTID:41565005 {source="DOID:824", source="MONDO:equivalentTo", source="EFO:0000649"}
xref: UMLS:C0031099 {source="MEDGEN:45815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002635 {source="DOID:824", source="MESH:D010518", source="MONDO:Redundant", source="NCIT:C34918"} ! periodontal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001758 ! periodontium
relationship: excluded_subClassOf MONDO:0006999 {source="DOID:9893", source="https://orcid.org/0000-0001-5208-3432"} ! tooth disorder

[Term]
id: MONDO:0005077
name: pertussis
def: "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." [NCIT:P378]
subset: gard_rare {source="GARD:8692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1569"}
subset: ordo_disorder {source="Orphanet:1489"}
subset: orphanet_rare {source="Orphanet:1489"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bordetella infection" BROAD [DOID:1116]
synonym: "Bordetella pertussis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bordetella pertussis disease or disorder" EXACT []
synonym: "Bordetella pertussis infection" EXACT [GARD:0008692]
synonym: "Bordetella pertussis infectious disease" EXACT []
synonym: "infection due to Bordetella pertussis" RELATED []
synonym: "pertussis" EXACT [Orphanet:1489]
synonym: "WC - whooping cough" EXACT [DOID:1116]
synonym: "whooping cough" EXACT [DOID:1116]
xref: DOID:1116 {source="EFO:0000650", source="MONDO:equivalentTo"}
xref: EFO:0000650 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8692 {source="MONDO:GARD"}
xref: ICD10CM:A37.0 {source="Orphanet:1489", source="Orphanet:1489/btnt"}
xref: ICD10CM:A37.1 {source="Orphanet:1489", source="MONDO:directSiblingOf", source="Orphanet:1489/btnt"}
xref: ICD10CM:A37.8 {source="Orphanet:1489", source="Orphanet:1489/btnt"}
xref: ICD10CM:A37.9 {source="Orphanet:1489", source="Orphanet:1489/btnt"}
xref: ICD9:033 {source="EFO:0000650"}
xref: ICD9:033.0
xref: ICD9:033.9
xref: MedDRA:10034738 {source="Orphanet:1489", source="Orphanet:1489/e"}
xref: MedDRA:10047974 {source="Orphanet:1489", source="Orphanet:1489/e"}
xref: MEDGEN:12159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001885 {source="DOID:1116"}
xref: MESH:D014917 {source="EFO:0000650", source="MONDO:equivalentTo", source="Orphanet:1489", source="DOID:1116", source="Orphanet:1489/e"}
xref: NCIT:C85231 {source="EFO:0000650", source="MONDO:equivalentTo"}
xref: NORD:1569 {source="MONDO:NORD"}
xref: Orphanet:1489 {source="MONDO:equivalentTo"}
xref: SCTID:26484003 {source="DOID:1116"}
xref: SCTID:27836007 {source="EFO:0000650", source="MONDO:equivalentTo"}
xref: UMLS:C0043167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12159"}
is_a: MONDO:0005113 {source="DOID:1116/inferred", source="MESH:D014917/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C85231", source="Orphanet:1489"} ! bacterial infectious disease
is_a: MONDO:0037872 {source="MONDO:Redundant"} ! bordetellosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:520 ! Bordetella pertussis
relationship: disease_has_infectious_agent NCBITaxon:520 {source="MONDO:Wikidata"} ! Bordetella pertussis
relationship: disease_has_location UBERON:0001004 {source="EFO:0000784"} ! respiratory system
relationship: disease_has_major_feature HP:0031247 ! Whooping cough
relationship: excluded_subClassOf MONDO:0000315 {source="DOID:1116", source="https://orcid.org/0000-0001-5208-3432"} ! commensal bacterial infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8692/whooping-cough" xsd:anyURI {source="GARD:0008692"}

[Term]
id: MONDO:0005078
name: phyllodes tumor
def: "A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors." [NCIT:C2977]
comment: Note that this class covers both breast and prostate phyllodes tumors
subset: otar {source="MONDO:OTAR"}
synonym: "CSP" EXACT ABBREVIATION [NCIT:C2977]
synonym: "cystosarcoma phyllodes" EXACT [NCIT:C2977]
synonym: "phyllodes neoplasm" EXACT [NCIT:C2977]
synonym: "phyllodes tumor" EXACT [NCIT:C2977]
xref: EFO:0000653 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003557 {source="EFO:0000653", source="MONDO:equivalentTo"}
xref: NCIT:C2977 {source="EFO:0000653", source="MONDO:equivalentTo"}
xref: SCTID:189826001 {source="EFO:0000653"}
xref: SCTID:71232009 {source="EFO:0000653"}
xref: UMLS:C0010701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1209"}
is_a: MONDO:0021045 {source="NCIT:C2977"} ! fibroepithelial neoplasm

[Term]
id: MONDO:0005079
name: polyp
def: "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." [NCIT:C3340]
subset: otar {source="MONDO:OTAR"}
synonym: "polyp" EXACT [NCIT:C3340]
xref: EFO:0000662 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N84 {source="MONDO:equivalentTo"}
xref: MEDGEN:19397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011127 {source="EFO:0000662", source="MONDO:equivalentTo"}
xref: NCIT:C3340 {source="EFO:0000662", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:41329004 {source="EFO:0000662"}
xref: SCTID:441456002 {source="EFO:0000662", source="MONDO:equivalentTo"}
xref: UMLS:C0032584 {source="MEDGEN:19397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0045024 {source="https://github.com/monarch-initiative/mondo/issues/1014"} ! cancer or benign tumor
relationship: excluded_subClassOf MONDO:0005070 {source="EFO:0000662", source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm

[Term]
id: MONDO:0005080
name: portal hypertension
def: "Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly." [NCIT:C3119]
subset: otar {source="MONDO:OTAR"}
xref: DOID:10762 {source="MONDO:equivalentTo", source="EFO:0000666"}
xref: EFO:0000666 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K76.6 {source="MONDO:equivalentTo", source="DOID:10762"}
xref: ICD9:572.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000666", source="DOID:10762"}
xref: MEDGEN:9375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006975 {source="MONDO:equivalentTo", source="EFO:0000666", source="DOID:10762"}
xref: NCIT:C3119 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000666", source="MONDO:exact-label-match", source="DOID:10762"}
xref: SCTID:155821005 {source="DOID:10762"}
xref: SCTID:34742003 {source="MONDO:equivalentTo", source="EFO:0000666", source="DOID:10762"}
xref: UMLS:C0020541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9375"}
is_a: MONDO:0002405 {source="DOID:10762"} ! hepatic vascular disorder
relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver

[Term]
id: MONDO:0005081
name: preeclampsia
def: "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia." [Orphanet:275555]
subset: gard_rare {source="GARD:12924", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:275555"}
subset: orphanet_rare {source="Orphanet:275555"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gestational hypertension" EXACT [DOID:10591]
synonym: "hypertension induced by pregnancy" EXACT [DOID:10591]
synonym: "pre-eclampsia" EXACT [DOID:10591]
synonym: "pre-eclamptic toxaemia" EXACT OMO:0003005 []
synonym: "pre-eclamptic toxemia" EXACT [DOID:10591]
synonym: "preeclampsia" EXACT [DOID:10591]
synonym: "preeclampsia/eclampsia" EXACT [DOID:10591]
synonym: "pregnancy associated hypertension" EXACT [DOID:10591, NCIT:C4371]
synonym: "pregnancy toxaemia" EXACT OMO:0003005 []
synonym: "pregnancy toxemia" EXACT [DOID:10591]
synonym: "proteinuric hypertension of pregnancy" EXACT [DOID:10591]
synonym: "toxaemia of pregnancy" RELATED OMO:0003005 []
synonym: "toxemia of pregnancy" RELATED [DOID:10591]
xref: DOID:10591 {source="MONDO:equivalentTo", source="EFO:0000668"}
xref: EFO:0000668 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12924 {source="MONDO:GARD"}
xref: ICD10CM:O14 {source="DOID:10591"}
xref: ICD10CM:O14.0 {source="Orphanet:275555", source="Orphanet:275555/btnt"}
xref: ICD10CM:O14.1 {source="Orphanet:275555", source="Orphanet:275555/btnt"}
xref: ICD10CM:O14.2 {source="Orphanet:275555", source="Orphanet:275555/btnt"}
xref: ICD10CM:O14.9 {source="Orphanet:275555", source="DOID:10591", source="Orphanet:275555/btnt"}
xref: ICD10CM:O14.90 {source="DOID:10591"}
xref: ICD9:642.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:642.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:642.42 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:642.43 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:642.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10036485 {source="Orphanet:275555", source="Orphanet:275555/e"}
xref: MEDGEN:18608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011225 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"}
xref: MESH:D014115 {source="EFO:0000668"}
xref: NCIT:C34943 {source="DOID:10591"}
xref: NCIT:C85021 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"}
xref: OMIMPS:189800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:275555 {source="MONDO:equivalentTo", source="DOID:10591"}
xref: SCTID:15394000 {source="DOID:10591", source="EFO:0000668"}
xref: SCTID:156106005 {source="DOID:10591"}
xref: SCTID:156109003 {source="DOID:10591"}
xref: SCTID:198972006 {source="DOID:10591"}
xref: SCTID:198979002 {source="DOID:10591"}
xref: SCTID:199011002 {source="DOID:10591"}
xref: SCTID:237280005 {source="DOID:10591"}
xref: SCTID:267306006 {source="DOID:10591"}
xref: SCTID:288201007 {source="DOID:10591"}
xref: SCTID:398254007 {source="MONDO:equivalentTo", source="DOID:10591", source="EFO:0000668"}
xref: SCTID:46764007 {source="DOID:10591"}
xref: SCTID:6758009 {source="DOID:10591"}
xref: UMLS:C0032914 {source="MEDGEN:18608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005044 {source="DOID:10591", source="EFO:0000668", source="MESH:D011225/inferred"} ! hypertensive disorder
is_a: MONDO:0024575 {source="Orphanet:275555"} ! pregnancy disorder
is_a: MONDO:0024664 {source="MESH:D011225", source="NCIT:C85021/inferred"} ! hypertension, pregnancy-induced
is_a: MONDO:0045048 {source="NCIT:C85021"} ! toxemia of pregnancy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:189800"} ! inherited

[Term]
id: MONDO:0005082
name: prostate adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the prostate gland" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of prostate" EXACT [NCIT:C2919]
synonym: "adenocarcinoma of the prostate" EXACT [NCIT:C2919]
synonym: "prad" RELATED [ONCOTREE:PRAD]
synonym: "prostate adenocarcinoma" EXACT [NCIT:C2919]
synonym: "prostate gland adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:2526 {source="EFO:0000673", source="MONDO:equivalentTo"}
xref: EFO:0000673 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011471 {source="EFO:0000673"}
xref: NCIT:C2919 {source="EFO:0000673", source="MONDO:equivalentTo", source="DOID:2526", source="MONDO:exact-label-match"}
xref: ONCOTREE:PRAD {source="MONDO:equivalentTo"}
xref: SCTID:399490008 {source="EFO:0000673", source="MONDO:equivalentTo", source="DOID:2526"}
xref: UMLS:C0007112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764"}
is_a: MONDO:0004970 {source="DOID:2526", source="EFO:0000673", source="MONDO:Redundant", source="NCIT:C2919"} ! adenocarcinoma
is_a: MONDO:0005159 {source="DOID:2526", source="EFO:0000673", source="MONDO:Redundant", source="NCIT:C2919/inferred"} ! prostate carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland
relationship: disease_has_location UBERON:0002367 {source="EFO:0000784"} ! prostate gland

[Term]
id: MONDO:0005083
name: psoriasis
def: "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8893 {source="MONDO:equivalentTo", source="EFO:0000676"}
xref: EFO:0000676 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L40 {source="MONDO:equivalentTo", source="DOID:8893"}
xref: ICD10CM:L40.9 {source="DOID:8893"}
xref: ICD9:696 {source="EFO:0000676"}
xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:0000676"}
xref: ICD9:696.5 {source="EFO:0000676"}
xref: ICD9:696.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:0000676"}
xref: MEDGEN:10997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011565 {source="MONDO:equivalentTo", source="EFO:0000676", source="DOID:8893"}
xref: NCIT:C3346 {source="MONDO:equivalentTo", source="EFO:0000676", source="DOID:8893"}
xref: OMIMPS:177900 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:156369008 {source="DOID:8893"}
xref: SCTID:156371008 {source="DOID:8893"}
xref: SCTID:200961000 {source="DOID:8893"}
xref: SCTID:200978009 {source="DOID:8893"}
xref: SCTID:267851002 {source="DOID:8893"}
xref: SCTID:9014002 {source="MONDO:equivalentTo", source="EFO:0000676", source="DOID:8893"}
xref: UMLS:C0033860 {source="MEDGEN:10997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="EFO:0000676"} ! dermatitis
is_a: MONDO:0005046 {source="EFO:0000676"} ! immune system disorder
disjoint_from: MONDO:0006601 {source="https://www.healthline.com/health/psoriasis/psoriasis-vs-pityriasis-rosea"} ! pityriasis rosea
relationship: disease_has_inflammation_site UBERON:0000403 ! scalp
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:177900"} ! inherited

[Term]
id: MONDO:0005084
name: mental disorder
def: "A disease that has its basis in the disruption of mental process." [MONDO:patterns/basis_in_disruption_of_process]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of mental process" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "mental or behavioral disorder" EXACT [DOID:2468]
synonym: "mental or behavioural disorder" EXACT OMO:0003005 []
synonym: "mental process disease" EXACT [MONDO:design_pattern]
xref: DOID:150 {source="MONDO:relatedTo", source="EFO:0000677"}
xref: EFO:0000677 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F01-F09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F01-F99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F99-F99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:290-299.99 {source="EFO:0000677"}
xref: ICD9:298.8 {source="DOID:2468"}
xref: ICD9:V11.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001523 {source="MONDO:relatedTo", source="EFO:0000677"}
xref: MESH:D011618 {source="EFO:0000677"}
xref: NCIT:C2893 {source="MONDO:relatedTo", source="EFO:0000677"}
xref: NIFSTD:birnlex_12669 {source="EFO:0000677"}
xref: SCTID:5464005 {source="EFO:0000677"}
xref: SCTID:69322001 {source="EFO:0000677"}
xref: SCTID:74732009 {source="MONDO:equivalentTo", source="EFO:0000677"}
xref: UMLS:C0004936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14047"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of MF:0000020 ! mental process
disjoint_from: MONDO:0005404 {source="https://orcid.org/0000-0002-6601-2165"} ! myalgic encephalomeyelitis/chronic fatigue syndrome
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain

[Term]
id: MONDO:0005085
name: pterygium
def: "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder." [NCIT:C133744]
subset: otar {source="MONDO:OTAR"}
synonym: "pterygium of conjunctiva and cornea" EXACT [NCIT:C133744]
synonym: "surfer's eye" EXACT [DOID:0002116]
xref: DOID:0002116 {source="MONDO:equivalentTo", source="EFO:0000678"}
xref: EFO:0000678 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H11.0 {source="MONDO:equivalentTo", source="DOID:0002116"}
xref: ICD10CM:H11.00 {source="DOID:0002116"}
xref: ICD10CM:H11.009 {source="DOID:0002116"}
xref: ICD9:372.4 {source="EFO:0000678", source="DOID:0002116"}
xref: ICD9:372.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0002116"}
xref: MEDGEN:46202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011625 {source="MONDO:equivalentTo", source="EFO:0000678", source="DOID:0002116"}
xref: NCIT:C133744 {source="MONDO:equivalentTo"}
xref: SCTID:155165000 {source="DOID:0002116"}
xref: SCTID:193879003 {source="DOID:0002116"}
xref: SCTID:193884009 {source="DOID:0002116"}
xref: SCTID:77489003 {source="MONDO:equivalentTo", source="EFO:0000678", source="DOID:0002116"}
xref: UMLS:C0033999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:46202"}
is_a: MONDO:0000942 {source="DOID:0002116", source="MONDO:Redundant"} ! corneal disorder
is_a: MONDO:0006105 {source="MONDO:Entailed", source="NCIT:C133744"} ! benign conjunctival neoplasm
is_a: MONDO:0006170 {source="ICD10CM:H11.0/inferred", source="MESH:D011625", source="MONDO:Redundant"} ! conjunctival disorder
is_a: MONDO:0020204 {source="MONDO:Redundant", source="NCIT:C133744/inferred"} ! conjunctival tumor
relationship: disease_has_location UBERON:0001811 {source="EFO:0000784"} ! conjunctiva

[Term]
id: MONDO:0005086
name: renal cell carcinoma
def: "A carcinoma that arises from glandular epithelial cells of the kidney" [https://orcid.org/0000-0002-6601-2165]
subset: disease_grouping
subset: gard_rare {source="GARD:13215", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1657"}
subset: ordo_group_of_disorders {source="Orphanet:217071"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of kidney" RELATED EXCLUDE [DOID:4450]
synonym: "hypernephroma" EXACT [DOID:4450]
synonym: "kidney adenocarcinoma" RELATED [MONDO:patterns/location]
synonym: "RCC" EXACT ABBREVIATION [DOID:4450, Orphanet:217071]
synonym: "renal cell adenocarcinoma" RELATED [GARD:0013215]
synonym: "renal cell carcinoma" EXACT [MONDO:ambiguous]
synonym: "renal cell carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:4450 {source="EFO:0000681", source="MONDO:equivalentTo"}
xref: EFO:0000681 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13215 {source="MONDO:GARD"}
xref: HP:0005584 {source="MONDO:otherHierarchy"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10067946 {source="Orphanet:217071", source="Orphanet:217071/e"}
xref: MEDGEN:766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002292 {source="EFO:0000681", source="Orphanet:217071", source="MONDO:equivalentTo", source="Orphanet:217071/e", source="DOID:4450"}
xref: NANDO:2200045 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9385 {source="EFO:0000681", source="GARD:0013215", source="MONDO:directSiblingOf", source="DOID:4450"}
xref: NORD:1657 {source="MONDO:NORD"}
xref: ONCOTREE:RCC {source="MONDO:equivalentTo"}
xref: Orphanet:217071 {source="MONDO:equivalentTo"}
xref: SCTID:254915003 {source="DOID:4450"}
xref: SCTID:41607009 {source="EFO:0000681", source="DOID:4450"}
xref: SCTID:702391001 {source="EFO:0000681", source="MONDO:equivalentTo", source="DOID:4450"}
xref: UMLS:C0007134 {source="MEDGEN:766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:4450", source="MESH:D002292", source="MONDO:Redundant"} ! adenocarcinoma
is_a: MONDO:0005206 {source="DOID:4450", source="EFO:0000681", source="MONDO:Redundant"} ! renal carcinoma
is_a: MONDO:0021163 {source="Orphanet:217071"} ! kidney neoplasm
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002113 ! kidney
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare
property_value: IAO:0000589 "renal cell carcinoma (disease)" xsd:string

[Term]
id: MONDO:0005087
name: respiratory system disorder
def: "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." [NCIT:C26871]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of respiratory system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of respiratory system" EXACT []
synonym: "disorder of respiratory system" EXACT [MONDO:patterns/location_top, NCIT:C26871]
synonym: "respiratory disease" EXACT [DOID:1579]
synonym: "respiratory disorder" EXACT [NCIT:C26871]
synonym: "respiratory system disease" EXACT [MONDO:patterns/location]
synonym: "respiratory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "respiratory system disorder" EXACT [NCIT:C26871]
xref: DOID:1579 {source="EFO:0000684", source="MONDO:equivalentTo"}
xref: EFO:0000684 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J00-J99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J96-J99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1579", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J98 {source="DOID:1579"}
xref: ICD10CM:P19-P29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:Q30-Q34 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:460-519.99 {source="EFO:0000684"}
xref: ICD9:500-508.99 {source="EFO:0000684"}
xref: ICD9:503 {source="EFO:0000684"}
xref: ICD9:508 {source="EFO:0000684"}
xref: ICD9:508.1 {source="EFO:0000684"}
xref: ICD9:508.8 {source="EFO:0000684"}
xref: ICD9:508.9 {source="EFO:0000684"}
xref: ICD9:510-519.99 {source="EFO:0000684", source="DOID:1579"}
xref: ICD9:516 {source="EFO:0000684"}
xref: ICD9:516.8 {source="EFO:0000684"}
xref: ICD9:516.9 {source="EFO:0000684"}
xref: ICD9:517 {source="EFO:0000684"}
xref: ICD9:517.8 {source="EFO:0000684"}
xref: ICD9:519 {source="EFO:0000684", source="DOID:1579"}
xref: ICD9:519.1 {source="EFO:0000684"}
xref: ICD9:519.3 {source="EFO:0000684"}
xref: ICD9:519.8 {source="MONDO:relatedTo", source="EFO:0000684", source="MONDO:i2s"}
xref: ICD9:519.9 {source="EFO:0000684", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:V12.60 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:V47.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:48421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012140 {source="MONDO:equivalentTo"}
xref: NANDO:1100010 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26871 {source="EFO:0000684", source="MONDO:equivalentTo"}
xref: SCTID:155603009 {source="DOID:1579"}
xref: SCTID:196057004 {source="DOID:1579"}
xref: SCTID:196184000 {source="DOID:1579"}
xref: SCTID:196255004 {source="DOID:1579"}
xref: SCTID:266373008 {source="DOID:1579"}
xref: SCTID:50043002 {source="EFO:0000684", source="MONDO:equivalentTo"}
xref: UMLS:C0035204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48421"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0001004 ! respiratory system
relationship: disease_has_location UBERON:0001004 {source="EFO:0000784", source="NCIT:C26871"} ! respiratory system

[Term]
id: MONDO:0005088
name: obsolete rheumatoid arthritis
is_obsolete: true
replaced_by: MONDO:0008383

[Term]
id: MONDO:0005089
name: sarcoma
def: "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma." [NCIT:C9118]
subset: otar {source="MONDO:OTAR"}
synonym: "connective and soft tissue neoplasm" RELATED EXCLUDE [DOID:1115]
synonym: "mesenchymal tumor, malignant" EXACT [NCIT:C9118]
synonym: "sarcoma" EXACT [NCIT:C9118]
synonym: "sarcoma of soft tissue and bone" EXACT [NCIT:C9118]
synonym: "sarcoma of the soft tissue and bone" EXACT [NCIT:C9118]
synonym: "sarcoma, malignant" EXACT [NCIT:C9118]
synonym: "tumor of soft tissue and skeleton" RELATED [DOID:1115, NCIT:C3810]
synonym: "tumour of soft tissue and skeleton" RELATED OMO:0003005 []
xref: DOID:1115 {source="EFO:0000691", source="MONDO:equivalentTo"}
xref: EFO:0000691 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C49 {source="DOID:1115"}
xref: ICD9:171 {source="EFO:0000691", source="DOID:1115"}
xref: ICD9:171.0 {source="EFO:0000691"}
xref: ICD9:171.2 {source="EFO:0000691"}
xref: ICD9:171.3 {source="EFO:0000691"}
xref: ICD9:171.4 {source="EFO:0000691"}
xref: ICD9:171.5 {source="EFO:0000691"}
xref: ICD9:171.6 {source="EFO:0000691"}
xref: ICD9:171.7 {source="EFO:0000691"}
xref: ICD9:171.8 {source="EFO:0000691"}
xref: ICD9:171.9 {source="EFO:0000691", source="MONDO:relatedTo", source="DOID:1115", source="MONDO:i2s"}
xref: ICDO:8800/3 {source="NCIT:C9118"}
xref: MEDGEN:224714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012509 {source="EFO:0000691", source="MONDO:equivalentTo"}
xref: NCIT:C9118 {source="EFO:0000691", source="MONDO:equivalentTo"}
xref: SCTID:187985009 {source="DOID:1115"}
xref: SCTID:2424003 {source="EFO:0000691"}
xref: SCTID:424413001 {source="EFO:0000691", source="MONDO:equivalentTo"}
xref: SCTID:93765001 {source="DOID:1115"}
xref: UMLS:C1261473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224714"}
is_a: MONDO:0004992 {source="DOID:1115", source="DOID:1115/inferred", source="EFO:0000691"} ! cancer

[Term]
id: MONDO:0005090
name: schizophrenia
def: "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "schizoaffective disorder" RELATED [OMIM:181500]
synonym: "schizophrenia" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical, OMIM:181500]
synonym: "schizophrenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "schizophrenia 12" BROAD [OMIM:181500, OMIM:genemap2]
synonym: "schizophrenia with or without an affective disorder" RELATED [OMIM:181500]
synonym: "schizophrenia, susceptibility to" RELATED [OMIM:181500, OMIM:genemap2]
synonym: "schizophrenia-1" EXACT [DOID:5419]
synonym: "SCZD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181500]
xref: DOID:5419 {source="EFO:0000692", source="MONDO:equivalentTo"}
xref: HP:0100753 {source="MONDO:otherHierarchy", source="DOID:5419"}
xref: ICD10CM:F20-F29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:295 {source="EFO:0000692"}
xref: ICD9:295.8 {source="EFO:0000692", source="DOID:5419"}
xref: ICD9:295.80 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:5419"}
xref: ICD9:295.85 {source="EFO:0000692"}
xref: ICD9:295.9 {source="EFO:0000692"}
xref: ICD9:295.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:48574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012559 {source="EFO:0000692", source="DOID:5419"}
xref: NCIT:C3362 {source="EFO:0000692", source="MONDO:equivalentTo"}
xref: NIFSTD:birnlex_2104 {source="EFO:0000692"}
xref: OMIM:181500 {source="EFO:0000692", source="MONDO:equivalentTo", source="DOID:5419"}
xref: Orphanet:3140 {source="MONDO:equivalentObsolete"}
xref: SCTID:58214004 {source="EFO:0000692", source="MONDO:equivalentTo"}
xref: UMLS:C0036341 {source="MEDGEN:48574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005485 {source="DOID:5419", source="https://orcid.org/0000-0002-6601-2165"} ! psychotic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "schizophrenia (disease)" xsd:string

[Term]
id: MONDO:0005091
name: severe acute respiratory syndrome
alt_id: MONDO:0015370
def: "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." [NCIT:P378]
subset: gard_rare {source="GARD:9237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140896"}
subset: orphanet_rare {source="Orphanet:140896"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute respiratory coronavirus infection" EXACT []
synonym: "SARS" EXACT ABBREVIATION [DOID:2945]
synonym: "SARS coronavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "SARS coronavirus disease or disorder" EXACT []
synonym: "SARS coronavirus infectious disease" EXACT []
synonym: "SARS-CoV infection" EXACT [DOID:2945]
xref: DOID:2945 {source="EFO:0000694", source="MONDO:equivalentTo"}
xref: EFO:0000694 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9237 {source="MONDO:GARD"}
xref: ICD10CM:J12.81 {source="DOID:2945"}
xref: icd11.foundation:652944603 {source="MONDO:equivalentTo", source="Orphanet:140896"}
xref: ICD9:079.82 {source="EFO:0000694", source="DOID:2945"}
xref: MedDRA:10061982 {source="Orphanet:140896/e", source="Orphanet:140896"}
xref: MEDGEN:262817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045169 {source="Orphanet:140896/e", source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945", source="Orphanet:140896"}
xref: NCIT:C85064 {source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945"}
xref: Orphanet:140896 {source="MONDO:equivalentTo"}
xref: SCTID:398447004 {source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945"}
xref: UMLS:C1175175 {source="MEDGEN:262817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="MESH:D045169/inferred", source="MONDO:Redundant"} ! respiratory system disorder
is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:227984 ! disease has primary infectious agent SARS coronavirus Tor2
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: disease_has_infectious_agent NCBITaxon:694009 {source="MONDO:Wikidata"} ! Severe acute respiratory syndrome-related coronavirus
relationship: disease_has_location UBERON:0001004 {source="EFO:0000784"} ! respiratory system
relationship: excluded_subClassOf MONDO:0005108 {source="DOID:2945", source="EFO:0000694", source="MESH:D045169/inferred", source="NCIT:C85064", source="Orphanet:140896", source="https://orcid.org/0000-0001-5208-3432"} ! viral infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0005092
name: signet ring cell carcinoma
def: "A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." [NCIT:C3774]
subset: otar {source="MONDO:OTAR"}
synonym: "signet ring carcinoma" EXACT [DOID:3493]
synonym: "signet ring carcinoma NOS (morphologic abnormality)" EXACT [DOID:3493]
synonym: "signet ring cell adenocarcinoma" EXACT [DOID:3493, NCIT:C3774]
synonym: "signet ring cell carcinoma" EXACT [DOID:3493, NCIT:C3774]
synonym: "signet ring cell carcinoma (morphologic abnormality)" EXACT [DOID:3493]
xref: DOID:3493 {source="MONDO:equivalentTo", source="EFO:0000698"}
xref: EFO:0000698 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8490/3 {source="NCIT:C3774"}
xref: MEDGEN:61663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018279 {source="MONDO:equivalentTo", source="EFO:0000698", source="DOID:3493"}
xref: NCIT:C3774 {source="MONDO:equivalentTo", source="EFO:0000698", source="DOID:3493"}
xref: SCTID:189701002 {source="DOID:3493"}
xref: SCTID:189702009 {source="DOID:3493"}
xref: SCTID:87737001 {source="EFO:0000698", source="DOID:3493"}
xref: UMLS:C0206696 {source="MEDGEN:61663", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:3493", source="MESH:D018279", source="NCIT:C3774"} ! adenocarcinoma

[Term]
id: MONDO:0005093
name: skin disorder
def: "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." [NCIT:C3371]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "cutaneous disorder" EXACT [NCIT:C3371]
synonym: "dermatosis" NARROW [https://medical-dictionary.thefreedictionary.com/dermatosis]
synonym: "disease of zone of skin" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of zone of skin" EXACT []
synonym: "disorder of skin" EXACT [NCIT:C3371]
synonym: "disorder of zone of skin" EXACT [MONDO:patterns/location_top]
synonym: "genodermatosis" NARROW [DOID:37]
synonym: "skin and subcutaneous tissue disease" EXACT [DOID:37]
synonym: "skin diseases and manifestations" EXACT [NCIT:C3371]
synonym: "skin disorder" EXACT [NCIT:C3371]
synonym: "zone of skin disease" EXACT [MONDO:patterns/location]
synonym: "zone of skin disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:37 {source="MONDO:equivalentTo", source="EFO:0000701"}
xref: EFO:0000701 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L00-L99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L10-L14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L40-L45 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L49-L54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L55-L59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L80-L99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:702 {source="DOID:37"}
xref: ICD9:702.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:20777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012871 {source="DOID:37", source="MONDO:equivalentTo"}
xref: MESH:D012873 {source="DOID:37"}
xref: NANDO:2100281 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27554 {source="DOID:37"}
xref: NCIT:C3371 {source="DOID:37", source="MONDO:equivalentTo", source="EFO:0000701"}
xref: SCTID:156292006 {source="DOID:37"}
xref: SCTID:156396006 {source="DOID:37"}
xref: SCTID:156400006 {source="DOID:37"}
xref: SCTID:156445005 {source="DOID:37"}
xref: SCTID:199879009 {source="DOID:37"}
xref: SCTID:200580005 {source="DOID:37"}
xref: SCTID:201095006 {source="DOID:37"}
xref: SCTID:201107006 {source="DOID:37"}
xref: SCTID:239001006 {source="DOID:37"}
xref: SCTID:267806002 {source="DOID:37"}
xref: SCTID:267859000 {source="DOID:37"}
xref: SCTID:267860005 {source="DOID:37"}
xref: SCTID:267873009 {source="DOID:37"}
xref: SCTID:5613003 {source="DOID:37"}
xref: SCTID:80659006 {source="DOID:37"}
xref: SCTID:95320005 {source="DOID:37", source="MONDO:equivalentTo"}
xref: UMLS:C0037274 {source="MEDGEN:20777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="DOID:37", source="MONDO:Redundant"} ! integumentary system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
relationship: disease_has_location UBERON:0002416 {source="NCIT:C3371"} ! integumental system

[Term]
id: MONDO:0005094
name: hemangiopericytoma
def: "An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces." [NCIT:C3087]
subset: otar {source="MONDO:OTAR"}
synonym: "haemangiopericytic meningioma" EXACT [DOID:264]
synonym: "haemangiopericytic meningioma [obs]" EXACT [DOID:264]
synonym: "hemangiopericytoma" EXACT [MONDO:0021188, NCIT:C3087]
synonym: "hemangiopericytoma, malignant" RELATED EXCLUDE [DOID:264]
synonym: "hemangiopericytoma, malignant (morphologic abnormality)" NARROW [DOID:264]
synonym: "malignant hemangiopericytoma" NARROW [DOID:264]
xref: DOID:264 {source="MONDO:equivalentTo", source="EFO:0000705"}
xref: ICDO:9150/1 {source="NCIT:C3087"}
xref: MEDGEN:5478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006393 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"}
xref: NCIT:C27263 {source="EFO:0000705"}
xref: NCIT:C3087 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"}
xref: SCTID:134335004 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"}
xref: SCTID:36060005 {source="DOID:264", source="EFO:0000705"}
xref: UMLS:C0018922 {source="MEDGEN:5478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002789 {source="NCIT:C3087"} ! hemangiopericytic tumor
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:264", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete connective tissue cancer

[Term]
id: MONDO:0005095
name: spondyloarthropathy
def: "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis." [NCIT:C116778]
subset: otar {source="MONDO:OTAR"}
synonym: "seronegative spondyloarthropathy" EXACT [NCIT:C116778]
synonym: "spondarthropathy" EXACT [DOID:1123]
synonym: "spondylarthropathy" RELATED [GARD:0004971]
synonym: "spondylarthrosis" EXACT [DOID:1123]
synonym: "spondyloarthritis" EXACT [NCIT:C116778]
xref: DOID:1123 {source="EFO:0000706", source="MONDO:equivalentTo"}
xref: EFO:0000706 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:181888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D025242 {source="EFO:0000706", source="DOID:1123"}
xref: MESH:D055009 {source="EFO:0000706", source="MONDO:relatedTo"}
xref: NCIT:C116778 {source="MONDO:equivalentTo"}
xref: SCTID:357182002 {source="DOID:1123"}
xref: SCTID:359173000 {source="DOID:1123"}
xref: SCTID:372109003 {source="EFO:0000706", source="DOID:1123", source="MONDO:directSiblingOf"}
xref: SCTID:8847002 {source="EFO:0000706", source="MONDO:relatedTo", source="DOID:1123"}
xref: UMLS:C0949691 {source="MEDGEN:181888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="EFO:0000706"} ! immune system disorder
is_a: MONDO:0006816 {source="DOID:1123", source="NCIT:C116778/inferred"} ! arthropathy

[Term]
id: MONDO:0005096
name: squamous cell carcinoma
def: "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma." [NCIT:C2929]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma, squamous cell, malignant" EXACT [NCIT:C2929]
synonym: "epidermoid carcinoma" EXACT [DOID:1749, NCIT:C2929]
synonym: "epidermoid cell cancer" EXACT [NCIT:C2929]
synonym: "malignant epidermoid cell neoplasm" EXACT [NCIT:C2929]
synonym: "malignant epidermoid cell tumor" EXACT [NCIT:C2929]
synonym: "malignant epidermoid cell tumour" EXACT OMO:0003005 []
synonym: "malignant squamous cell neoplasm" EXACT [NCIT:C2929]
synonym: "malignant squamous cell tumor" EXACT [DOID:1749, NCIT:C2929, NCIT:C4971]
synonym: "malignant squamous cell tumour" EXACT OMO:0003005 []
synonym: "squamous carcinoma" EXACT [DOID:1749, NCIT:C2929]
synonym: "squamous cell cancer" EXACT [DOID:1749, NCIT:C2929]
synonym: "squamous cell carcinoma" EXACT [NCIT:C2929]
synonym: "squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:1749]
synonym: "squamous cell carcinoma NOS (morphologic abnormality)" EXACT [DOID:1749]
synonym: "squamous cell epithelioma" EXACT [DOID:1749, NCIT:C2929, NCIT:C8999]
xref: DOID:1749 {source="EFO:0000707", source="MONDO:equivalentTo"}
xref: EFO:0000707 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8070/3 {source="NCIT:C2929"}
xref: MEDGEN:2874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002294 {source="EFO:0000707", source="MONDO:equivalentTo", source="DOID:1749"}
xref: MESH:D018307 {source="DOID:1749"}
xref: NCIT:C2929 {source="EFO:0000707", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1749"}
xref: SCTID:154605007 {source="DOID:1749"}
xref: SCTID:189566008 {source="DOID:1749"}
xref: SCTID:28899001 {source="EFO:0000707", source="DOID:1749"}
xref: SCTID:402815007 {source="EFO:0000707", source="MONDO:equivalentTo", source="DOID:1749"}
xref: UMLS:C0007137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2874"}
is_a: MONDO:0002532 {source="MESH:D002294", source="NCIT:C2929"} ! squamous cell neoplasm
is_a: MONDO:0004993 {source="DOID:1749", source="EFO:0000707", source="EFO:0000707/inferred", source="MESH:D002294", source="MONDO:Redundant", source="NCIT:C2929"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_arises_from_structure CL:0000076 ! squamous epithelial cell

[Term]
id: MONDO:0005097
name: squamous cell lung carcinoma
def: "A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." [NCIT:C3493]
comment: In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC
subset: otar {source="MONDO:OTAR"}
synonym: "epidermoid cell carcinoma of lung" EXACT [NCIT:C3493]
synonym: "epidermoid cell carcinoma of the lung" EXACT [DOID:3907, NCIT:C3493]
synonym: "epidermoid cell lung carcinoma" EXACT [NCIT:C3493]
synonym: "lung squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of lung" EXACT [DOID:3907, NCIT:C3493]
synonym: "squamous cell carcinoma of the lung" EXACT [NCIT:C3493]
synonym: "squamous cell lung cancer" EXACT [NCIT:C3493]
synonym: "squamous cell lung carcinoma" EXACT [NCIT:C3493]
xref: DOID:3907 {source="EFO:0000708", source="MONDO:equivalentTo"}
xref: EFO:0000708 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3493 {source="DOID:3907", source="EFO:0000708", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:LUSC {source="MONDO:equivalentTo"}
xref: SCTID:254634000 {source="DOID:3907", source="EFO:0000708", source="MONDO:equivalentTo"}
xref: UMLS:C0149782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56202"}
is_a: MONDO:0005096 {source="DOID:3907", source="EFO:0000708", source="MONDO:Redundant", source="NCIT:C3493"} ! squamous cell carcinoma
is_a: MONDO:0005138 {source="DOID:3907/inferred", source="EFO:0000708", source="MONDO:Redundant", source="NCIT:C3493"} ! lung carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung
relationship: excluded_subClassOf MONDO:0005233 {source="DOID:3907", source="ONCOTREE:LUSC", source="https://orcid.org/0000-0001-5208-3432"} ! non-small cell lung carcinoma

[Term]
id: MONDO:0005098
name: stroke disorder
def: "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event." [NCIT:C3390]
comment: Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. {xref="https://orcid.org/0000-0001-5208-3432", xref="https://www.epilepsydiagnosis.org/etiology/stroke-overview.html"}
subset: otar {source="MONDO:OTAR"}
synonym: "cerebral infarction" RELATED [NCIT:C3390]
synonym: "cerebrovascular accident" EXACT [NCIT:C3390]
synonym: "cerebrovascular accident, (CVA)" EXACT [NCIT:C3390]
synonym: "CVA" EXACT ABBREVIATION [NCIT:C3390]
synonym: "CVA, cerebrovascular accident" EXACT [NCIT:C3390]
synonym: "stroke" EXACT [NCIT:C3390]
synonym: "stroke syndrome" EXACT [NCIT:C3390]
synonym: "syndrome, stroke" EXACT [NCIT:C3390]
synonym: "undetermined stroke" EXACT [NCIT:C3390]
xref: EFO:0000712 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001297
xref: MEDGEN:52522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020521 {source="MONDO:equivalentTo", source="EFO:0000712"}
xref: NCIT:C3390 {source="MONDO:equivalentTo", source="EFO:0000712"}
xref: NIFSTD:birnlex_12783 {source="EFO:0000712"}
xref: SCTID:230690007 {source="MONDO:equivalentTo", source="EFO:0000712"}
xref: SCTID:422504002 {source="EFO:0000712"}
xref: UMLS:C0038454 {source="MEDGEN:52522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011057 {source="MESH:D020521", source="NCIT:C3390"} ! cerebrovascular disorder
relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
relationship: disease_has_location UBERON:0003499 {source="EFO:0000784"} ! brain blood vessel
relationship: disease_has_major_feature HP:0001297 ! Stroke

[Term]
id: MONDO:0005099
name: subarachnoid hemorrhage
def: "Intracranial hemorrhage into the subarachnoid space." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "subarachnoid haemorrhage (disease)" EXACT OMO:0003005 []
synonym: "subarachnoid hemorrhage" EXACT [MONDO:ambiguous]
synonym: "subarachnoid hemorrhage (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0000713 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002138 {source="MONDO:otherHierarchy"}
xref: ICD9:430 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000713"}
xref: MEDGEN:11625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013345 {source="MONDO:equivalentTo", source="EFO:0000713"}
xref: NCIT:C50757 {source="MONDO:otherHierarchy", source="EFO:0000713"}
xref: SCTID:21454007 {source="MONDO:equivalentTo", source="EFO:0000713"}
xref: UMLS:C0038525 {source="MEDGEN:11625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="EFO:0000713/inferred", source="MESH:D013345/inferred", source="MONDO:Entailed", source="MONDO:indirect"} ! vascular disorder
is_a: MONDO:0005560 {source="MESH:D013345/inferred", source="MONDO:Redundant"} ! brain disorder
relationship: disease_has_location UBERON:0000315 ! subarachnoid space
relationship: disease_has_location UBERON:0003499 {source="EFO:0000784"} ! brain blood vessel
property_value: IAO:0000589 "subarachnoid hemorrhage (disease)" xsd:string

[Term]
id: MONDO:0005100
name: systemic sclerosis
def: "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." [NCIT:C72070]
subset: gard_rare {source="GARD:9748", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2007"}
subset: ordo_disorder {source="Orphanet:90291"}
subset: orphanet_rare {source="Orphanet:90291"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse Scleroderma" EXACT [NCIT:C72070]
synonym: "diffuse sclerosis" EXACT [NCIT:C72070]
synonym: "progressive systemic sclerosis" EXACT [DOID:418]
synonym: "PSS" RELATED EXCLUDE [DOID:418]
synonym: "PSS (progressive systemic sclerosis)" EXACT [DOID:418]
synonym: "Scleroderma" BROAD [DOID:418]
synonym: "Scleroderma (& [systemic sclerosis])" EXACT [DOID:418]
synonym: "Scleroderma syndrome" EXACT [DOID:418]
synonym: "Scleroderma, diffuse" EXACT [NCIT:C72070]
synonym: "Scleroderma, systemic" EXACT [NCIT:C72070]
synonym: "SSc" EXACT [doi:10.1183/09059180.00005512]
synonym: "SSc, diffuse sclerosis" EXACT [NCIT:C72070]
synonym: "Systemic Scleroderma" EXACT [NORD:2007]
synonym: "systemic Scleroderma" EXACT [NCIT:C72070]
synonym: "systemic scleroderma" EXACT [NCIT:C72070, Orphanet:90291]
synonym: "systemic sclerosis" EXACT [DOID:418, ICD9CM:710.1, MONDO:0019564, NCIT:C72070]
xref: DOID:418 {source="EFO:0000717", source="MONDO:equivalentTo"}
xref: EFO:0000717 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9748 {source="MONDO:GARD"}
xref: ICD10CM:M34.0 {source="DOID:418", source="Orphanet:90291/btnt", source="Orphanet:90291"}
xref: ICD10CM:M34.1 {source="Orphanet:90291/btnt", source="Orphanet:90291"}
xref: ICD10CM:M34.2 {source="Orphanet:90291/btnt", source="Orphanet:90291"}
xref: ICD10CM:M34.8 {source="Orphanet:90291/btnt", source="Orphanet:90291"}
xref: ICD10CM:M34.9 {source="DOID:418", source="Orphanet:90291/btnt", source="Orphanet:90291"}
xref: icd11.foundation:1084365812 {source="MONDO:equivalentTo", source="Orphanet:90291"}
xref: ICD9:710.1 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418", source="MONDO:i2s"}
xref: MedDRA:10042953 {source="Orphanet:90291/e", source="Orphanet:90291"}
xref: MEDGEN:19897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012595 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"}
xref: NANDO:1200277 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200429 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C72070 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"}
xref: NORD:2007 {source="MONDO:NORD"}
xref: Orphanet:90291 {source="MONDO:equivalentTo"}
xref: SCTID:128457007 {source="DOID:418"}
xref: SCTID:156451000 {source="DOID:418"}
xref: SCTID:201440007 {source="DOID:418"}
xref: SCTID:268049000 {source="DOID:418"}
xref: SCTID:444133002 {source="EFO:0000717"}
xref: SCTID:89155008 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418"}
xref: UMLS:C0036421 {source="MEDGEN:19897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:418", source="MESH:D012595", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0019340 {source="DOID:418", source="NCIT:C72070", source="Orphanet:90291"} ! scleroderma
relationship: disease_has_feature HP:0100324 ! Scleroderma
relationship: excluded_subClassOf MONDO:0005087 {source="Orphanet:90291", source="https://orcid.org/0000-0001-5208-3432"} ! respiratory system disorder
relationship: excluded_subClassOf MONDO:0016345 {source="Orphanet:90291", source="https://orcid.org/0000-0001-5208-3432"} ! non-familial restrictive cardiomyopathy
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:90291", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0005101
name: ulcerative colitis
def: "An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "colitis ulcerative" EXACT [NCIT:C2952]
synonym: "left-sided ulcerative colitis" NARROW [DOID:8577]
synonym: "ulcerative colitis" EXACT [MONDO:ambiguous, NCIT:C2952]
synonym: "ulcerative colitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "ulcerative proctosigmoiditis" RELATED [Orphanet:771]
xref: DOID:8577 {source="EFO:0000729", source="MONDO:equivalentTo"}
xref: EFO:0000729 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100279 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K51 {source="DOID:8577"}
xref: ICD10CM:K51.9 {source="DOID:8577"}
xref: ICD9:556 {source="EFO:0000729", source="DOID:8577"}
xref: ICD9:556.5 {source="DOID:8577"}
xref: ICD9:556.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:556.9 {source="DOID:8577", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003093 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo"}
xref: NANDO:1200449 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200920 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2952 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo"}
xref: Orphanet:771 {source="MONDO:equivalentObsolete"}
xref: SCTID:155764007 {source="DOID:8577"}
xref: SCTID:196985000 {source="DOID:8577"}
xref: SCTID:196988003 {source="DOID:8577"}
xref: SCTID:196996008 {source="DOID:8577"}
xref: SCTID:266447004 {source="DOID:8577"}
xref: SCTID:27701000 {source="DOID:8577"}
xref: SCTID:441971007 {source="DOID:8577"}
xref: SCTID:64766004 {source="EFO:0000729", source="DOID:8577", source="MONDO:equivalentTo"}
xref: SCTID:68195006 {source="DOID:8577"}
xref: UMLS:C0009324 {source="MONDO:equivalentTo", source="MEDGEN:3532", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DOID:8577/inferred", source="EFO:0000729", source="MESH:D003093", source="MONDO:Redundant", source="NCIT:C2952"} ! inflammatory bowel disease
is_a: MONDO:0005292 {source="DOID:8577", source="MESH:D003093"} ! colitis
relationship: disease_has_location UBERON:0001155 {source="EFO:0000784"} ! colon
property_value: IAO:0000589 "ulcerative colitis (disease)" xsd:string

[Term]
id: MONDO:0005102
name: undifferentiated (embryonal) sarcoma
def: "An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells." [NCIT:C27096]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "embryonal sarcoma" EXACT [NCIT:C27096]
synonym: "embryonal sarcoma (undifferentiated sarcoma)" EXACT [NCIT:C27096]
synonym: "embryonal sarcoma, undifferentiated" EXACT [NCIT:C27096]
synonym: "sarcoma, undifferentiated, malignant" EXACT [NCIT:C27096]
synonym: "UES" EXACT ABBREVIATION [NCIT:C27096]
synonym: "undifferentiated (embryonal) sarcoma" EXACT [NCIT:C27096]
synonym: "undifferentiated sarcoma" EXACT [NCIT:C27096]
xref: EFO:0000730 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8805/3 {source="NCIT:C27096"}
xref: ICDO:8991/3 {source="NCIT:C27096"}
xref: MEDGEN:163512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200058 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27096 {source="EFO:0000730", source="MONDO:equivalentTo"}
xref: SCTID:128734000 {source="EFO:0000730"}
xref: UMLS:C0855073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163512"}
is_a: MONDO:0002397 {source="NCIT:C27096"} ! liver sarcoma
is_a: MONDO:0005089 {source="EFO:0000730", source="MONDO:Redundant", source="NCIT:C27096/inferred"} ! sarcoma

[Term]
id: MONDO:0005103
name: well-differentiated liposarcoma
def: "A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation." [NCIT:P378]
subset: gard_rare {source="GARD:19721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:99971"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99971"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALT" EXACT ABBREVIATION [Orphanet:99971]
synonym: "atypical lipoma" EXACT [Orphanet:99971]
synonym: "atypical lipomatous tumor" BROAD [Orphanet:99971]
synonym: "atypical lipomatous tumour" BROAD OMO:0003005 []
synonym: "WDLS" EXACT ABBREVIATION [Orphanet:99971]
synonym: "well differentiated liposarcoma" EXACT [NCIT:C4250]
synonym: "well differentiated liposarcoma of deep soft tissue" EXACT [NCIT:C4250]
synonym: "well-differentiated liposarcoma" EXACT [NCIT:C4250]
xref: EFO:0000736 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19721 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:99971/ntbt", source="Orphanet:99971"}
xref: ICDO:8851/3 {source="NCIT:C4250"}
xref: MEDGEN:237164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4250 {source="MONDO:equivalentObsolete", source="EFO:0000736"}
xref: ONCOTREE:WDLS {source="MONDO:equivalentTo"}
xref: Orphanet:99971 {source="MONDO:equivalentTo"}
xref: UMLS:C1370889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237164"}
is_a: MONDO:0005060 {source="EFO:0000736", source="NCIT:C4250", source="ONCOTREE:WDLS", source="Orphanet:99971"} ! liposarcoma
relationship: disease_has_location UBERON:0001013 {source="EFO:0000784"} ! adipose tissue

[Term]
id: MONDO:0005104
name: aJCC grade 1 sarcoma
def: "Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" [EFO:0000737]
synonym: "aJCC G1 sarcoma" RELATED [NCIT:C9419]
synonym: "aJCC grade 1 sarcoma" EXACT [NCIT:C9419]
synonym: "aJCC grade I sarcoma" RELATED [NCIT:C9419]
synonym: "well differentiated sarcoma" RELATED [NCIT:C9419]
xref: MEDGEN:231330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9419 {source="MONDO:equivalentTo", source="EFO:0000737"}
xref: UMLS:C1332066 {source="MEDGEN:231330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="EFO:0000737", source="NCIT:C9419/inferred"} ! sarcoma
relationship: has_characteristic MONDO:0024491 {source="NCIT:C9419"} ! tumor grade 1, general grading system

[Term]
id: MONDO:0005105
name: melanoma
def: "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." [NCIT:C3224]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant melanoma" EXACT [DOID:1909, NCIT:C3224]
synonym: "melanoma" EXACT [MONDO:ambiguous, NCIT:C3224]
synonym: "melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "melanoma, malignant" EXACT [NCIT:C3224]
synonym: "Naevocarcinoma" EXACT [DOID:1909]
xref: DOID:1909 {source="MONDO:equivalentTo", source="EFO:0000756"}
xref: EFO:0000756 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002861 {source="MONDO:otherHierarchy"}
xref: ICDO:8720/3 {source="NCIT:C3224"}
xref: MEDGEN:9944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008545 {source="DOID:1909", source="MONDO:equivalentTo", source="EFO:0000756"}
xref: NANDO:2200077 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3224 {source="DOID:1909", source="MONDO:equivalentTo", source="EFO:0000756"}
xref: ONCOTREE:MEL {source="MONDO:equivalentTo"}
xref: Orphanet:411533 {source="MONDO:equivalentObsolete"}
xref: SCTID:154501005 {source="DOID:1909"}
xref: SCTID:189749008 {source="DOID:1909"}
xref: SCTID:2092003 {source="DOID:1909", source="EFO:0000756"}
xref: SCTID:269503007 {source="DOID:1909"}
xref: SCTID:269577007 {source="DOID:1909"}
xref: SCTID:372244006 {source="DOID:1909", source="MONDO:equivalentTo", source="EFO:0000756"}
xref: UMLS:C0025202 {source="MEDGEN:9944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021143 {source="MESH:D008545", source="MONDO:Redundant", source="NCIT:C3224"} ! melanocytic neoplasm
relationship: disease_arises_from_structure CL:0000148 ! melanocyte
relationship: excluded_subClassOf MONDO:0019496 {source="MESH:D008545", source="https://orcid.org/0000-0001-5208-3432"} ! neuroendocrine neoplasm
property_value: IAO:0000589 "melanoma (disease)" xsd:string

[Term]
id: MONDO:0005106
name: lipoma
def: "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." [NCIT:C3192]
subset: otar {source="MONDO:OTAR"}
synonym: "benign lipomatous tumor" RELATED EXCLUDE [DOID:3315]
synonym: "benign lipomatous tumour" RELATED OMO:0003005 []
synonym: "benign tumor of adipose tissue" EXACT [DOID:3315, NCIT:C4502]
synonym: "benign tumour of adipose tissue" EXACT OMO:0003005 []
synonym: "lipoma" EXACT [NCIT:C3192]
synonym: "lipoma, benign" EXACT [NCIT:C3192]
synonym: "lipomatosis, familial multiple" EXACT [DOID:3315]
synonym: "lipomatous neoplasm" RELATED [DOID:3315]
synonym: "lipomatous neoplasm (morphologic abnormality)" EXACT [DOID:3315]
synonym: "lipomatous tumor" RELATED [DOID:3315, NCIT:C4248]
synonym: "lipomatous tumour" RELATED OMO:0003005 []
synonym: "multiple lipomatosis" NARROW [DOID:3315]
synonym: "tumor of adipose tissue" RELATED EXCLUDE [DOID:3315]
synonym: "tumour of adipose tissue" RELATED OMO:0003005 []
xref: DOID:3315 {source="MONDO:equivalentTo", source="EFO:0000759"}
xref: EFO:0000759 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D17 {source="DOID:3315"}
xref: ICD10CM:D17.9 {source="DOID:3315"}
xref: ICD9:214 {source="DOID:3315", source="EFO:0000759"}
xref: ICD9:214.9 {source="DOID:3315"}
xref: ICDO:8850/0 {source="NCIT:C3192"}
xref: MEDGEN:44173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008067 {source="DOID:3315", source="MONDO:equivalentTo", source="EFO:0000759"}
xref: MESH:D018205 {source="DOID:3315"}
xref: NCIT:C3192 {source="DOID:3315", source="MONDO:equivalentTo", source="EFO:0000759"}
xref: SCTID:115227001 {source="DOID:3315"}
xref: SCTID:154612003 {source="DOID:3315"}
xref: SCTID:189018005 {source="DOID:3315"}
xref: SCTID:189776008 {source="DOID:3315"}
xref: SCTID:189785008 {source="DOID:3315"}
xref: SCTID:254827004 {source="DOID:3315"}
xref: SCTID:254830006 {source="DOID:3315"}
xref: SCTID:254831005 {source="MONDO:relatedTo", source="DOID:3315"}
xref: SCTID:46720004 {source="DOID:3315", source="EFO:0000759"}
xref: SCTID:93163002 {source="DOID:3315", source="MONDO:equivalentTo"}
xref: UMLS:C0023798 {source="MONDO:equivalentTo", source="MEDGEN:44173", source="MONDO:MEDGEN"}
is_a: MONDO:0005165 {source="DOID:3315", source="DOID:3315/inferred", source="EFO:0000759", source="MONDO:indirect"} ! benign neoplasm
is_a: MONDO:0044983 {source="NCIT:C3192"} ! benign lipomatous neoplasm

[Term]
id: MONDO:0005107
name: obsolete hepatocellular adenoma
is_obsolete: true
replaced_by: MONDO:0018902

[Term]
id: MONDO:0005108
name: viral infectious disease
def: "Any disease caused by a virus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, viral" EXACT [NCIT:C3439]
synonym: "infections, Viruses" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "viral disease" EXACT [DOID:934, NCIT:C3439]
synonym: "viral disorder" EXACT [NCIT:C3439]
synonym: "viral infection" EXACT [DOID:934, NCIT:C3439]
synonym: "virus infection" EXACT [DOID:934]
synonym: "Viruses caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses disease or disorder" EXACT []
synonym: "Viruses infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Viruses infectious disease" EXACT []
xref: DOID:934 {source="EFO:0000763", source="MONDO:equivalentTo"}
xref: EFO:0000763 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A80-A89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:A90-A99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:A94 {source="DOID:934"}
xref: ICD10CM:B00-B09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:B25-B34 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:B34 {source="DOID:934"}
xref: ICD10CM:B34.9 {source="DOID:934"}
xref: ICD9:060-066.99 {source="DOID:934"}
xref: ICD9:066.9 {source="DOID:934"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:079.99 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D001102 {source="DOID:934"}
xref: MESH:D014777 {source="DOID:934", source="MONDO:equivalentTo"}
xref: NCIT:C3439 {source="DOID:934", source="MONDO:equivalentTo"}
xref: NCIT:C34396 {source="DOID:934"}
xref: SCTID:154319002 {source="DOID:934"}
xref: SCTID:154345006 {source="DOID:934"}
xref: SCTID:154372003 {source="DOID:934"}
xref: SCTID:186619002 {source="DOID:934"}
xref: SCTID:186754003 {source="DOID:934"}
xref: SCTID:187471008 {source="DOID:934"}
xref: SCTID:266116004 {source="DOID:934"}
xref: SCTID:266188005 {source="DOID:934"}
xref: SCTID:266194002 {source="DOID:934"}
xref: SCTID:34014006 {source="DOID:934", source="EFO:0000763", source="MONDO:equivalentTo"}
xref: SCTID:40610006 {source="DOID:934"}
is_a: MONDO:0005550 {source="DOID:934", source="EFO:0000763", source="MONDO:Redundant", source="NCIT:C3439"} ! infectious disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
disjoint_from: MONDO:0005247 ! bacterial urinary tract infection
relationship: disease_has_infectious_agent NCBITaxon:10239 {source="MONDO:Wikidata"} ! Viruses

[Term]
id: MONDO:0005109
name: HIV infectious disease
def: "An infection caused by the human immunodeficiency virus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "HIV infection" EXACT [DOID:526]
synonym: "Human immunodeficiency virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human immunodeficiency virus disease or disorder" EXACT []
synonym: "Human immunodeficiency virus infectious disease" EXACT []
synonym: "human immunodeficiency virus infectious disease" RELATED [DOID:526]
xref: DOID:526 {source="MONDO:equivalentTo", source="EFO:0000764"}
xref: EFO:0000764 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B20 {source="DOID:526"}
xref: ICD10CM:B20-B20 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:526", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:042 {source="DOID:526", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000764"}
xref: ICD9:042-042.99 {source="DOID:526", source="EFO:0000764"}
xref: MEDGEN:5583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015658 {source="DOID:526", source="MONDO:equivalentTo", source="EFO:0000764"}
xref: NANDO:2200810 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3108 {source="DOID:526", source="MONDO:equivalentTo", source="EFO:0000764"}
xref: SCTID:123321001 {source="DOID:526"}
xref: SCTID:186705005 {source="DOID:526"}
xref: SCTID:187438009 {source="DOID:526"}
xref: SCTID:187453001 {source="DOID:526"}
xref: SCTID:19030005 {source="EFO:0000764"}
xref: SCTID:72621000119104 {source="EFO:0000764"}
xref: SCTID:86406008 {source="DOID:526", source="MONDO:equivalentTo", source="EFO:0000764"}
xref: UMLS:C0019693 {source="MEDGEN:5583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:526", source="EFO:0000764", source="MESH:D015658/inferred", source="MONDO:Redundant", source="NCIT:C3108"} ! viral infectious disease
is_a: MONDO:0021682 {source="MESH:D015658"} ! viral sexually transmitted disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12721 ! disease has primary infectious agent Human immunodeficiency virus
relationship: disease_has_infectious_agent NCBITaxon:11676 ! Human immunodeficiency virus 1
relationship: disease_has_infectious_agent NCBITaxon:11709 ! Human immunodeficiency virus 2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0005110
name: idiopathic cardiomyopathy
def: "A disease of the heart muscle or myocardium proper whose cause is unknown." [NCIT:C53654]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0000767 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:18634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53654 {source="MONDO:equivalentTo", source="EFO:0000767"}
xref: UMLS:C0033141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18634"}
is_a: MONDO:0004994 {source="EFO:0000767", source="NCIT:C53654"} ! cardiomyopathy
intersection_of: MONDO:0004994 ! cardiomyopathy
intersection_of: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0005111
name: Epstein-Barr virus infection
def: "An infection that is caused by Epstein-Barr virus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "EBV infection" EXACT [MESH:D020031, NCIT:C38759]
synonym: "EBV infections" RELATED [MESH:D020031]
synonym: "Epstein Barr Virus infections" RELATED [MESH:D020031]
synonym: "Epstein-Barr Virus infection" EXACT [NCIT:C38759]
synonym: "Herpesvirus 4 infections, Human" RELATED [MESH:D020031]
synonym: "Human gammaherpesvirus 4 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human gammaherpesvirus 4 disease or disorder" EXACT []
synonym: "Human gammaherpesvirus 4 infectious disease" EXACT []
synonym: "Human Herpes Virus 4 infections" RELATED [MESH:D020031]
synonym: "Human Herpesvirus 4 infections" RELATED [MESH:D020031]
synonym: "infections, EBV" RELATED [MESH:D020031]
synonym: "infections, Epstein-Barr Virus" RELATED [MESH:D020031]
synonym: "Virus infections, Epstein-Barr" RELATED [MESH:D020031]
xref: DOID:2938 {source="MONDO:equivalentTo"}
xref: EFO:0000769 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:57439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014412 {source="EFO:0000769"}
xref: MESH:D020031 {source="MONDO:equivalentTo", source="EFO:0000769"}
xref: NCIT:C38759 {source="MONDO:equivalentTo", source="EFO:0000769"}
xref: UMLS:C0149678 {source="MEDGEN:57439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0000769", source="MESH:D020031/inferred", source="MONDO:Redundant", source="NCIT:C38759"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10376 ! disease has primary infectious agent human gammaherpesvirus 4

[Term]
id: MONDO:0005112
name: malignant pleural mesothelioma
def: "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." [NCIT:C7376]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant mesothelioma of pleura" EXACT [DOID:7474, NCIT:C7376]
synonym: "malignant mesothelioma of the pleura" EXACT [NCIT:C7376]
synonym: "malignant pleural mesothelioma" EXACT [NCIT:C7376]
synonym: "pleura mesothelioma" BROAD [MONDO:patterns/location]
synonym: "pleural diffuse malignant mesothelioma" EXACT [NCIT:C7376]
synonym: "pleural malignant mesothelioma" EXACT [NCIT:C7376]
xref: DOID:7474 {source="EFO:0000770", source="MONDO:equivalentTo"}
xref: EFO:0000770 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C45.0 {source="DOID:7474"}
xref: MEDGEN:208810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7376 {source="EFO:0000770", source="MONDO:equivalentTo", source="DOID:7474"}
xref: SCTID:109373004 {source="DOID:7474"}
xref: SCTID:187878009 {source="DOID:7474"}
xref: SCTID:254645002 {source="EFO:0000770", source="MONDO:equivalentTo", source="DOID:7474"}
xref: UMLS:C0812413 {source="MEDGEN:208810", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003308 {source="MONDO:Redundant", source="NCIT:C7376"} ! pleural mesothelioma
is_a: MONDO:0006292 {source="DOID:7474", source="MONDO:Redundant", source="NCIT:C7376"} ! malignant mesothelioma
is_a: MONDO:0006294 {source="DOID:7474", source="MONDO:Redundant", source="NCIT:C7376"} ! pleural cancer
intersection_of: MONDO:0005065 ! mesothelioma
intersection_of: disease_has_location UBERON:0000977 ! pleura
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: disease_has_location UBERON:0000977 {source="EFO:0000784"} ! pleura

[Term]
id: MONDO:0005113
name: bacterial infectious disease
def: "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections." [NCIT:C2890]
subset: otar {source="MONDO:OTAR"}
synonym: "Bacteria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria disease or disorder" EXACT []
synonym: "Bacteria infectious disease" EXACT []
synonym: "bacterial disease" EXACT [NCIT:C2890]
synonym: "bacterial disorder" EXACT [NCIT:C2890]
synonym: "bacterial infection" EXACT [MESH:D001424, NCIT:C2890]
synonym: "bacterial infectious disease" EXACT [MONDO:0001026]
synonym: "infection, bacterial" EXACT [MESH:D001424, NCIT:C2890]
synonym: "infections, bacterial" RELATED [MESH:D001424]
xref: DOID:104 {source="MONDO:equivalentTo"}
xref: EFO:0000771 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A30-A49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:A49 {source="DOID:104"}
xref: ICD10CM:A49.9 {source="DOID:104"}
xref: ICD9:040.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:041.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001424 {source="DOID:104", source="MONDO:equivalentTo"}
xref: MESH:D016905 {source="DOID:104"}
xref: MESH:D016908 {source="DOID:104"}
xref: NCIT:C2890 {source="DOID:104", source="MONDO:equivalentTo"}
xref: SCTID:154318005 {source="DOID:104"}
xref: SCTID:186470002 {source="DOID:104"}
xref: SCTID:187347000 {source="DOID:104"}
xref: SCTID:266182006 {source="DOID:104"}
xref: SCTID:266187000 {source="DOID:104"}
xref: SCTID:301811001 {source="DOID:104"}
xref: SCTID:87628006 {source="DOID:104", source="MONDO:equivalentTo"}
xref: UMLS:C0004623 {source="MEDGEN:14012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 {source="DOID:104", source="EFO:0000771", source="MONDO:Redundant", source="NCIT:C2890"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria
relationship: disease_has_infectious_agent NCBITaxon:2 {source="MONDO:Wikidata"} ! Bacteria

[Term]
id: MONDO:0005114
name: pneumococcal infection
def: "Infections with bacteria of the species streptococcus pneumoniae." [MESH:D011008]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, pneumococcal" RELATED [MESH:D011008]
synonym: "infection, Streptococcus pneumoniae" RELATED [MESH:D011008]
synonym: "infections, pneumococcal" RELATED [MESH:D011008]
synonym: "infections, Streptococcus pneumoniae" RELATED [MESH:D011008]
synonym: "pneumococcal infection" EXACT [MESH:D011008]
synonym: "pneumoniae infection, Streptococcus" RELATED [MESH:D011008]
synonym: "pneumoniae infections, Streptococcus" RELATED [MESH:D011008]
synonym: "Streptococcus pneumoniae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus pneumoniae disease or disorder" EXACT []
synonym: "Streptococcus pneumoniae infection" RELATED [MESH:D011008]
synonym: "Streptococcus pneumoniae infections" RELATED [MESH:D011008]
synonym: "Streptococcus pneumoniae infectious disease" EXACT []
xref: EFO:0000772 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:041.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:18528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011008 {source="EFO:0000772", source="MONDO:equivalentTo"}
xref: SCTID:16814004 {source="EFO:0000772", source="MONDO:equivalentTo"}
xref: UMLS:C0032269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18528"}
is_a: MONDO:0005113 {source="EFO:0000772", source="MESH:D011008/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0021680 {source="MESH:D011008", source="MONDO:Redundant"} ! streptococcal infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1313 ! Streptococcus pneumoniae

[Term]
id: MONDO:0005115
name: temporal lobe epilepsy
def: "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" [MESH:D004833]
subset: gard_rare {source="GARD:5135", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98819"}
subset: orphanet_rare {source="Orphanet:98819"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy of temporal lobe" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial temporal lobe" EXACT [OMIMPS:600512]
synonym: "epilepsy, temporal lobe" EXACT [DOID:3328]
synonym: "familial temporal lobe epilepsy syndrome" EXACT [MONDO:0100032]
synonym: "temporal lobe epilepsy" EXACT [MONDO:patterns/location]
xref: DOID:3328 {source="MONDO:equivalentTo", source="EFO:0000773"}
xref: EFO:0000773 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5135 {source="MONDO:GARD"}
xref: MEDGEN:4990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004833 {source="MONDO:equivalentTo", source="EFO:0000773", source="DOID:3328"}
xref: NCIT:C177244 {source="MONDO:equivalentTo"}
xref: NIFSTD:birnlex_12733 {source="EFO:0000773"}
xref: OMIMPS:600512 {source="MONDO:equivalentTo"}
xref: Orphanet:98819 {source="MONDO:equivalentTo"}
xref: SCTID:155040000 {source="DOID:3328"}
xref: SCTID:193000002 {source="MONDO:relatedTo", source="EFO:0000773", source="DOID:3328"}
xref: SCTID:783739005 {source="MONDO:equivalentTo"}
xref: SCTID:84340007 {source="DOID:3328"}
xref: UMLS:C0014556 {source="MEDGEN:4990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005384 {source="DOID:3328", source="EFO:0000773", source="MESH:D004833"} ! focal epilepsy
is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
intersection_of: MONDO:0005027 ! epilepsy
intersection_of: disease_has_location UBERON:0001871 ! temporal lobe
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600512"} ! inherited
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T01:48:38Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7349" xsd:anyURI

[Term]
id: MONDO:0005116
name: Whipple disease
def: "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." [NCIT:P378]
subset: gard_rare {source="GARD:7889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1850"}
subset: ordo_disorder {source="Orphanet:3452"}
subset: orphanet_rare {source="Orphanet:3452"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intestinal lipodystrophy" EXACT [DOID:8476, Orphanet:3452]
synonym: "intestinal lipophagic granulomatosis" EXACT [Orphanet:3452]
synonym: "secondary non-tropical sprue" EXACT [Orphanet:3452]
synonym: "Tropheryma whippelii infection" RELATED [GARD:0007889]
synonym: "Tropheryma whipplei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Tropheryma whipplei disease or disorder" EXACT []
synonym: "Tropheryma whipplei infectious disease" EXACT []
synonym: "Whipple disease" EXACT [MONDO:0018099]
synonym: "Whipple's disease" RELATED [DOID:8476, ICD9CM:040.2]
xref: DOID:8476 {source="MONDO:equivalentTo", source="EFO:0000775"}
xref: EFO:0000775 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7889 {source="MONDO:GARD"}
xref: ICD10CM:K90.81 {source="MONDO:equivalentTo", source="DOID:8476"}
xref: ICD10EXP:K90.8+ {source="Orphanet:3452", source="Orphanet:3452/ntbt"}
xref: ICD10EXP:M14.8* {source="Orphanet:3452", source="Orphanet:3452/ntbt"}
xref: ICD9:040.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000775", source="DOID:8476"}
xref: MedDRA:10047931 {source="Orphanet:3452", source="Orphanet:3452/e"}
xref: MEDGEN:7347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531849 {source="Orphanet:3452", source="Orphanet:3452/e"}
xref: MESH:D008061 {source="Orphanet:3452", source="MONDO:equivalentTo", source="Orphanet:3452/e", source="EFO:0000775", source="DOID:8476"}
xref: NCIT:C85228 {source="MONDO:equivalentTo", source="EFO:0000775", source="DOID:8476"}
xref: NORD:1850 {source="MONDO:NORD"}
xref: Orphanet:3452 {source="MONDO:equivalentTo"}
xref: SCTID:41545003 {source="MONDO:equivalentTo", source="EFO:0000775", source="DOID:8476"}
xref: UMLS:C0023788 {source="MEDGEN:7347", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:8476", source="MESH:D008061/inferred", source="MONDO:Redundant", source="Orphanet:3452"} ! intestinal disorder
is_a: MONDO:0005113 {source="EFO:0000775", source="MESH:D008061/inferred", source="MONDO:Redundant", source="NCIT:C85228", source="Orphanet:3452"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2039 ! Tropheryma whipplei
relationship: disease_has_location UBERON:0001007 {source="EFO:0000784"} ! digestive system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245", source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0005117
name: Aeromonas hydrophila infectious disease
def: "Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria." [EFO:0000776]
subset: otar {source="MONDO:OTAR"}
synonym: "Aeromonas hydrophila caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Aeromonas hydrophila disease or disorder" EXACT []
xref: EFO:0000776 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005113 {source="EFO:0000776", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:644 ! Aeromonas hydrophila

[Term]
id: MONDO:0005118
name: human granulocytic ehrlichiosis
def: "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex." [Wikipedia:Human_granulocytic_anaplasmosis]
comment: Human granulocytic ehrlichiosis (HGE) is also called human granulocytic anaplasmosis (HGA).
subset: gard_rare {source="GARD:71", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HGE" BROAD ABBREVIATION [DOID:0050025, GARD:0000071]
synonym: "human anaplasmosis caused by Anaplasma phagocytophilum" RELATED []
synonym: "human anaplasmosis due to Anaplasma phagocytophilum" EXACT []
synonym: "human ehrlichial infection, human granulocytic type" RELATED [GARD:0000071]
synonym: "human granulocytic anaplasmosis" EXACT [DOID:0050025]
synonym: "human granulocytic ehrlichiosis" EXACT []
synonym: "infection by Anaplasma phagocytophilum" RELATED []
xref: DOID:0050025 {source="MONDO:equivalentTo", source="EFO:0000777"}
xref: EFO:0000777 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:71 {source="MONDO:GARD"}
xref: ICD9:082.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:85708001 {source="MONDO:equivalentTo"}
xref: UMLS:C0483368 {source="MEDGEN:96911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="DOID:0050025/inferred", source="EFO:0000777", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:948 ! disease has primary infectious agent Anaplasma phagocytophilum
relationship: disease_has_location CL:0000775 {source="EFO:0000784", source="Wikipedia:Human_granulocytic_anaplasmosis"} ! neutrophil
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0016003 {source="DOID:0050025", source="https://orcid.org/0000-0001-5208-3432"} ! ehrlichiosis

[Term]
id: MONDO:0005119
name: anthrax infection
def: "An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers." [NCIT:P378]
comment: Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax
subset: otar {source="MONDO:OTAR"}
synonym: "anthrax" EXACT [NCIT:C84565]
synonym: "anthrax disease" RELATED [DOID:7427]
synonym: "Bacillus anthracis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacillus anthracis disease or disorder" EXACT []
synonym: "Bacillus anthracis infectious disease" EXACT []
xref: DOID:7427 {source="MONDO:equivalentTo", source="EFO:0000778"}
xref: EFO:0000778 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A22 {source="DOID:7427"}
xref: ICD10CM:A22.9 {source="DOID:7427"}
xref: ICD9:022 {source="DOID:7427"}
xref: ICD9:022.8 {source="EFO:0000778"}
xref: ICD9:022.9 {source="DOID:7427", source="EFO:0000778"}
xref: MEDGEN:8110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000881 {source="DOID:7427", source="MONDO:equivalentTo"}
xref: NCIT:C84565 {source="DOID:7427", source="MONDO:equivalentTo"}
xref: SCTID:154295005 {source="DOID:7427"}
xref: SCTID:17540007 {source="DOID:7427"}
xref: SCTID:186304006 {source="DOID:7427"}
xref: SCTID:187302001 {source="DOID:7427"}
xref: SCTID:409498004 {source="DOID:7427", source="MONDO:equivalentTo"}
xref: UMLS:C0003175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8110"}
is_a: MONDO:0000314 {source="DOID:7427"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:7427/inferred", source="EFO:0000778", source="MESH:D000881/inferred", source="MONDO:Redundant", source="NCIT:C84565"} ! bacterial infectious disease
is_a: MONDO:0006923 {source="MESH:D000881", source="MONDO:Entailed", source="MONDO:Redundant"} ! Bacillaceae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1392 ! Bacillus anthracis
relationship: disease_has_infectious_agent NCBITaxon:1392 ! Bacillus anthracis
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:7427", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0005120
name: Drosophila C virus infection
def: "A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses." [EFO:0000779]
subset: otar {source="MONDO:OTAR"}
synonym: "Drosophila C virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Drosophila C virus disease or disorder" EXACT []
synonym: "Drosophila C virus infectious disease" EXACT []
xref: EFO:0000779 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: PMID:25253354 {source="EFO:0000779"}
is_a: MONDO:0005583 {source="https://github.com/monarch-initiative/mondo/issues/2286"} ! non-human animal disease
is_a: MONDO:0700053 {source="EFO:0000779", source="MONDO:Redundant"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0100332 NCBITaxon:64279 ! disease has primary infectious agent Drosophila C virus
property_value: RO:0002175 NCBITaxon:7227 {source="https://orcid.org/0000-0002-4142-7153"}

[Term]
id: MONDO:0005121
name: Enterococcus faecalis infection
def: "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." [EFO:0000780]
subset: otar {source="MONDO:OTAR"}
synonym: "Enterococcus faecalis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enterococcus faecalis disease or disorder" EXACT []
synonym: "Enterococcus faecalis infectious disease" EXACT []
xref: EFO:0000780 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1843390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0948752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843390"}
is_a: MONDO:0005113 {source="EFO:0000780", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:1040019 {source="PMID:33620836"} ! Enterococcus infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1351 ! Enterococcus faecalis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0005122
name: Pectobacterium carotovorum infection
def: "A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \"bacterial soft rot\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems)." [EFO:0000781]
subset: otar {source="MONDO:OTAR"}
synonym: "Pectobacterium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pectobacterium disease or disorder" EXACT []
synonym: "Pectobacterium infectious disease" EXACT []
xref: EFO:0000781 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: Wikipedia:Pectobacterium_carotovorum {source="EFO:0000781"}
is_a: MONDO:0005113 {source="EFO:0000781", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:122277 ! Pectobacterium

[Term]
id: MONDO:0005123
name: obsolete Hibiscus chlorotic ringspot virus infection
is_obsolete: true

[Term]
id: MONDO:0005124
name: leprosy
def: "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system." [Orphanet:548]
subset: gard_rare {source="GARD:6886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1362"}
subset: ordo_disorder {source="Orphanet:548"}
subset: orphanet_rare {source="Orphanet:548"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hansen disease" EXACT [NCIT:C84824]
synonym: "Hansen's disease" EXACT [NCIT:C84824]
synonym: "Mycobacterium leprae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium leprae disease or disorder" EXACT []
synonym: "Mycobacterium leprae infectious disease" EXACT []
xref: DOID:1024 {source="EFO:0001054", source="MONDO:equivalentTo"}
xref: EFO:0001054 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6886 {source="MONDO:GARD"}
xref: ICD10CM:A30 {source="DOID:1024", source="MONDO:equivalentTo"}
xref: ICD10CM:A30.0 {source="Orphanet:548/btnt", source="Orphanet:548"}
xref: ICD10CM:A30.1 {source="Orphanet:548/btnt", source="Orphanet:548"}
xref: ICD10CM:A30.2 {source="Orphanet:548/btnt", source="Orphanet:548"}
xref: ICD10CM:A30.3 {source="Orphanet:548/btnt", source="Orphanet:548"}
xref: ICD10CM:A30.4 {source="Orphanet:548/btnt", source="Orphanet:548"}
xref: ICD10CM:A30.5 {source="Orphanet:548/btnt", source="Orphanet:548"}
xref: ICD10CM:A30.8 {source="Orphanet:548/btnt", source="Orphanet:548"}
xref: ICD10CM:A30.9 {source="Orphanet:548/btnt", source="Orphanet:548", source="DOID:1024"}
xref: ICD9:030 {source="EFO:0001054", source="DOID:1024"}
xref: ICD9:030.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:030.9 {source="DOID:1024", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10024229 {source="Orphanet:548", source="Orphanet:548/e"}
xref: MEDGEN:6049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007918 {source="EFO:0001054", source="Orphanet:548", source="DOID:1024", source="MONDO:equivalentTo", source="Orphanet:548/e"}
xref: NCIT:C84824 {source="EFO:0001054", source="DOID:1024", source="MONDO:equivalentTo"}
xref: NORD:1362 {source="MONDO:NORD"}
xref: Orphanet:548 {source="DOID:1024", source="MONDO:equivalentTo"}
xref: SCTID:154298007 {source="DOID:1024"}
xref: SCTID:186339006 {source="DOID:1024"}
xref: SCTID:187316006 {source="DOID:1024"}
xref: SCTID:266184007 {source="DOID:1024"}
xref: SCTID:81004002 {source="EFO:0001054", source="DOID:1024", source="MONDO:equivalentTo"}
xref: UMLS:C0023343 {source="MEDGEN:6049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:1024"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:1024/inferred", source="EFO:0001054", source="MESH:D007918/inferred", source="MONDO:Redundant", source="NCIT:C84824/inferred", source="Orphanet:548"} ! bacterial infectious disease
intersection_of: MONDO:0005550 {source="MONDO:Wikidata"} ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1769 {source="MONDO:Wikidata"} ! Mycobacterium leprae
relationship: disease_has_infectious_agent NCBITaxon:1769 {source="MONDO:Wikidata"} ! Mycobacterium leprae
relationship: disease_has_infectious_agent NCBITaxon:480418 {source="MONDO:Wikidata"} ! Mycobacterium lepromatosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0005125
name: borderline leprosy
def: "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." [MESH:D015439]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "borderline leprosy [group B]" EXACT [DOID:1023, ICD9CM:030.3]
synonym: "borderline or dimorphous leprosy" EXACT [DOID:1023]
synonym: "Midborderline leprosy" EXACT [DOID:1023]
xref: DOID:1023 {source="EFO:0001055", source="MONDO:equivalentTo"}
xref: EFO:0001055 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A30.3 {source="DOID:1023", source="MONDO:equivalentTo"}
xref: ICD9:030.3 {source="DOID:1023", source="EFO:0001055"}
xref: MEDGEN:7305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015439 {source="DOID:1023", source="EFO:0001055", source="MONDO:equivalentTo"}
xref: SCTID:400008009 {source="DOID:1023", source="EFO:0001055"}
xref: SCTID:400154003 {source="MONDO:equivalentTo"}
xref: SCTID:50521002 {source="DOID:1023"}
xref: UMLS:C0023346 {source="MONDO:equivalentTo", source="MEDGEN:7305", source="MONDO:MEDGEN"}
is_a: MONDO:0005124 {source="DOID:1023", source="EFO:0001055", source="ICD10CM:A30.3", source="MESH:D015439/inferred"} ! leprosy

[Term]
id: MONDO:0005126
name: tuberculoid leprosy
def: "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." [MESH:D015441]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "smooth leprosy" EXACT [DOID:1025]
synonym: "tuberculoid leprosy [type T]" EXACT [DOID:1025, ICD9CM:030.1]
synonym: "type T leprosy" EXACT [DOID:1025]
xref: DOID:1025 {source="EFO:0001056", source="MONDO:equivalentTo"}
xref: EFO:0001056 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A30.1 {source="DOID:1025", source="MONDO:equivalentTo"}
xref: ICD9:030.1 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015441 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo"}
xref: SCTID:70143003 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo"}
xref: UMLS:C0023351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6050"}
is_a: MONDO:0005124 {source="DOID:1025", source="EFO:0001056", source="ICD10CM:A30.1", source="MESH:D015441/inferred"} ! leprosy

[Term]
id: MONDO:0005127
name: lepromatous leprosy
def: "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." [MESH:D015440]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lepromatous leprosy [type L]" EXACT [DOID:10887, ICD9CM:030.0]
synonym: "type L leprosy" EXACT [DOID:10887]
xref: DOID:10887 {source="EFO:0001057", source="MONDO:equivalentTo"}
xref: EFO:0001057 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A30.5 {source="DOID:10887", source="MONDO:equivalentTo"}
xref: ICD9:030.0 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:7306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015440 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo"}
xref: SCTID:21560005 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo"}
xref: UMLS:C0023348 {source="MEDGEN:7306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005124 {source="DOID:10887", source="EFO:0001057", source="ICD10CM:A30.5", source="MESH:D015440/inferred"} ! leprosy
relationship: disease_has_feature HP:0001596 ! Alopecia
relationship: disease_has_feature HP:0003474 ! Somatic sensory dysfunction

[Term]
id: MONDO:0005128
name: obsolete sensory system disease
def: "OBSOLETE. A disease involving the sensory system." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of sensory system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sensory system" EXACT []
synonym: "disorder of sensory system" EXACT [MONDO:patterns/location_top]
synonym: "sensory disease" EXACT [DOID:0050155]
synonym: "sensory system disease" EXACT [MONDO:patterns/location]
synonym: "sensory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:0050155 {source="EFO:0001058", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/823" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0005129
name: cataract
def: "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [NCIT:C26713]
subset: otar {source="MONDO:OTAR"}
synonym: "cataract" EXACT [MONDO:ambiguous]
synonym: "cataract (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "opacity of the lens" EXACT [NCIT:C26713]
xref: DOID:83 {source="MONDO:equivalentTo", source="EFO:0001059"}
xref: HP:0000518 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H26 {source="DOID:83"}
xref: ICD9:366 {source="EFO:0001059"}
xref: ICD9:366.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:366.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:83"}
xref: ICD9:366.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:39462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002386 {source="MONDO:equivalentTo", source="EFO:0001059", source="DOID:83"}
xref: NCIT:C26713 {source="MONDO:equivalentTo", source="EFO:0001059", source="NCIT:C26713"}
xref: OMIMPS:116200 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:128306009 {source="EFO:0001059"}
xref: SCTID:193570009 {source="MONDO:equivalentTo", source="EFO:0001059"}
xref: SCTID:193620000 {source="DOID:83"}
xref: SCTID:193622008 {source="DOID:83"}
xref: UMLS:C0086543 {source="MEDGEN:39462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001176 {source="DOID:83", source="MESH:D002386", source="NCIT:C26713"} ! lens disorder
relationship: disease_has_location UBERON:0010230 ! eyeball of camera-type eye
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:116200"} ! inherited
property_value: IAO:0000589 "cataract (disease)" xsd:string

[Term]
id: MONDO:0005130
name: celiac disease
def: "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." [NCIT:C26714]
subset: otar {source="MONDO:OTAR"}
synonym: "celiac disease" EXACT [DOID:10608, Orphanet:555]
synonym: "celiac sprue" EXACT [DOID:10608, Orphanet:555]
synonym: "coeliac sprue" EXACT OMO:0003005 []
synonym: "gluten intolerance" EXACT [Orphanet:555]
synonym: "gluten-induced enteropathy" EXACT [NCIT:C26714, Orphanet:555]
synonym: "idiopathic steatorrhea" EXACT [DOID:10608, Orphanet:555]
synonym: "non tropical sprue" EXACT [NCIT:C26714]
xref: DOID:10608 {source="MONDO:equivalentTo", source="EFO:0001060"}
xref: EFO:0001060 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K90.0 {source="MONDO:equivalentTo", source="DOID:10608"}
xref: ICD9:579.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10608", source="EFO:0001060"}
xref: MEDGEN:3291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002446 {source="MONDO:equivalentTo", source="DOID:10608", source="EFO:0001060"}
xref: NCIT:C26714 {source="MONDO:equivalentTo", source="DOID:10608", source="MONDO:exact-label-match", source="EFO:0001060"}
xref: OMIMPS:212750 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:555 {source="MONDO:equivalentObsolete", source="DOID:10608"}
xref: SCTID:155842007 {source="DOID:10608"}
xref: SCTID:197477005 {source="DOID:10608"}
xref: SCTID:197481005 {source="DOID:10608"}
xref: SCTID:23829007 {source="DOID:10608"}
xref: SCTID:266478000 {source="DOID:10608"}
xref: SCTID:396331005 {source="MONDO:equivalentTo", source="DOID:10608", source="EFO:0001060"}
xref: UMLS:C0007570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3291"}
is_a: MONDO:0000588 {source="DOID:10608"} ! autoimmune disorder of gastrointestinal tract
is_a: MONDO:0005020 {source="EFO:0001060", source="MESH:D002446/inferred", source="MONDO:Entailed", source="NCIT:C26714/inferred"} ! intestinal disorder
is_a: MONDO:0020598 ! malabsorption syndrome
relationship: disease_has_location UBERON:0002108 {source="EFO:0000784"} ! small intestine
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:212750"} ! inherited

[Term]
id: MONDO:0005131
name: cervical carcinoma
def: "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." [NCIT:C9039]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of cervix" BROAD [DOID:2893, NCIT:C9039]
synonym: "cancer of the cervix" BROAD [NCIT:C9039]
synonym: "cancer of the uterine cervix" BROAD [NCIT:C9039]
synonym: "cancer of uterine cervix" BROAD [NCIT:C9039]
synonym: "carcinoma cervix uteri" EXACT [DOID:2893]
synonym: "carcinoma of cervix" EXACT [DOID:2893, MTH:166, NCIT:C9039]
synonym: "carcinoma of cervix uteri" EXACT [NCIT:C9039]
synonym: "carcinoma of the cervix" EXACT [NCIT:C9039]
synonym: "carcinoma of the cervix uteri" EXACT [DOID:2893, NCIT:C9039]
synonym: "carcinoma of the uterine cervix" EXACT [NCIT:C9039]
synonym: "carcinoma of uterine cervix" EXACT [MONDO:patterns/carcinoma, NCIT:C9039]
synonym: "cervical cancer" BROAD [NCIT:C9039]
synonym: "cervical cancer, NOS" BROAD [NCIT:C9039]
synonym: "cervical carcinoma" EXACT [NCIT:C9039]
synonym: "cervix cancer" BROAD [NCIT:C9039]
synonym: "cervix carcinoma" EXACT [MONDO:0002456, NCIT:C9039]
synonym: "cervix uteri carcinoma" EXACT [NCIT:C9039]
synonym: "uterine cervix cancer" BROAD [NCIT:C9039]
synonym: "uterine cervix carcinoma" EXACT [MONDO:patterns/location, NCIT:C9039]
xref: DOID:2893 {source="MONDO:equivalentTo", source="EFO:0001061"}
xref: EFO:0001061 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:86222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9039 {source="DOID:2893", source="MONDO:equivalentTo", source="EFO:0001061"}
xref: SCTID:154522004 {source="DOID:2893"}
xref: SCTID:154525002 {source="DOID:2893"}
xref: SCTID:188174005 {source="DOID:2893"}
xref: SCTID:269596006 {source="DOID:2893"}
xref: SCTID:269599004 {source="DOID:2893"}
xref: SCTID:285432005 {source="DOID:2893", source="MONDO:equivalentTo", source="EFO:0001061"}
xref: SCTID:93752005 {source="DOID:2893"}
xref: UMLS:C0302592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:86222"}
is_a: MONDO:0002974 {source="DOID:2893", source="MONDO:Redundant", source="NCIT:C9039"} ! cervical cancer
is_a: MONDO:0004993 {source="EFO:0001061", source="MONDO:Redundant", source="NCIT:C9039"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: disease_arises_from_structure UBERON:0004801 {source="NCIT:C9039"} ! cervix epithelium
relationship: disease_has_location UBERON:0000002 {source="EFO:0000784"} ! uterine cervix

[Term]
id: MONDO:0005132
name: cytomegalovirus infection
def: "A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies." [NCIT:C53649]
subset: otar {source="MONDO:OTAR"}
synonym: "CMV infection" EXACT [NCIT:C53649]
synonym: "Cytomegaloviral infection" EXACT [NCIT:C53649]
synonym: "HCMV infection" EXACT [NCIT:C53649]
xref: EFO:0001062 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:078.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0001062"}
xref: MEDGEN:8239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003586 {source="MONDO:equivalentTo", source="EFO:0001062"}
xref: NCIT:C112314 {source="MONDO:otherHierarchy", source="EFO:0001062"}
xref: NCIT:C53649 {source="MONDO:equivalentTo"}
xref: SCTID:28944009 {source="MONDO:equivalentTo", source="EFO:0001062"}
xref: UMLS:C0010823 {source="MEDGEN:8239", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0001062", source="MESH:D003586/inferred", source="MONDO:Redundant", source="NCIT:C53649"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10358 ! disease has primary infectious agent Cytomegalovirus

[Term]
id: MONDO:0005133
name: endometriosis
def: "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." [NCIT:C3014]
subset: otar {source="MONDO:OTAR"}
synonym: "endometriosis" EXACT [MONDO:ambiguous, NCIT:C3014]
synonym: "endometriosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:289 {source="EFO:0001065", source="MONDO:equivalentTo"}
xref: EFO:0001065 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0030127 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N80 {source="MONDO:equivalentTo", source="DOID:289"}
xref: ICD10CM:N80.9 {source="DOID:289"}
xref: ICD9:617 {source="EFO:0001065", source="DOID:289"}
xref: ICD9:617.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:617.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:289"}
xref: MEDGEN:8620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004715 {source="EFO:0001065", source="MONDO:equivalentTo", source="DOID:289"}
xref: NCIT:C3014 {source="EFO:0001065", source="MONDO:equivalentTo", source="DOID:289"}
xref: SCTID:103677003 {source="DOID:289"}
xref: SCTID:11871002 {source="DOID:289"}
xref: SCTID:129103003 {source="MONDO:equivalentTo", source="DOID:289"}
xref: SCTID:155988000 {source="DOID:289"}
xref: SCTID:198246007 {source="DOID:289"}
xref: SCTID:198259004 {source="DOID:289"}
xref: SCTID:266588002 {source="DOID:289"}
xref: SCTID:396224008 {source="EFO:0001065", source="DOID:289"}
xref: UMLS:C0014175 {source="MEDGEN:8620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:289", source="MESH:D004715", source="MONDO:Redundant", source="NCIT:C3014/inferred"} ! female reproductive system disorder
relationship: disease_has_location UBERON:0001295 {source="EFO:0000784"} ! endometrium
property_value: IAO:0000589 "endometriosis (disease)" xsd:string

[Term]
id: MONDO:0005134
name: experimental autoimmune encephalomyelitis
def: "An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0001066 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D004681 {source="EFO:0001066", source="MONDO:equivalentTo"}
xref: NCIT:C3006 {source="EFO:0001066", source="MONDO:otherHierarchy"}
xref: SCTID:27040004 {source="EFO:0001066"}
xref: SCTID:50776006 {source="EFO:0001066"}
is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
is_a: MONDO:1011336 {source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
relationship: excluded_subClassOf MONDO:0005156 {source="EFO:0001066", source="https://orcid.org/0000-0002-5002-8648"} ! encephalomyelitis
relationship: excluded_subClassOf MONDO:0006704 {source="MESH:D004681", source="https://orcid.org/0000-0002-5002-8648"} ! CNS demyelinating autoimmune disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7325" xsd:string

[Term]
id: MONDO:0005135
name: parasitic infectious disease
def: "A successful invasion of a host by an organism that uses the host for food and shelter." [NCIT:C27864]
subset: otar {source="MONDO:OTAR"}
synonym: "disease caused by parasite" EXACT []
synonym: "disease, parasitic" RELATED [MESH:D010272]
synonym: "diseases, parasitic" RELATED [MESH:D010272]
synonym: "ectoparasitic disease" NARROW [DOID:1398]
synonym: "infestation" RELATED []
synonym: "parasite infestation" RELATED []
synonym: "parasitemia" NARROW [DOID:1398]
synonym: "parasitic disease" EXACT [MESH:D010272, NCIT:C27864]
synonym: "parasitic infection" EXACT [NCIT:C27864]
synonym: "parasitic infectious disease" EXACT [DOID:1398]
synonym: "parasitism" RELATED []
synonym: "parasitosis" RELATED []
xref: DOID:1398 {source="EFO:0001067", source="MONDO:equivalentTo"}
xref: EFO:0001067 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H44.12 {source="DOID:1398"}
xref: ICD9:129 {source="EFO:0001067"}
xref: ICD9:134.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:134.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:136.4 {source="EFO:0001067"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:360.13 {source="EFO:0001067", source="DOID:1398"}
xref: ICD9:376.13 {source="EFO:0001067"}
xref: MEDGEN:196662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010272 {source="EFO:0001067", source="MONDO:equivalentTo"}
xref: MESH:D018512 {source="EFO:0001067"}
xref: NCIT:C27864 {source="EFO:0001067", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NCIT:C34587 {source="DOID:1398"}
xref: SCTID:128938009 {source="EFO:0001067"}
xref: SCTID:128940004 {source="EFO:0001067"}
xref: SCTID:17322007 {source="EFO:0001067", source="MONDO:equivalentTo"}
xref: SCTID:187239003 {source="EFO:0001067"}
xref: SCTID:193273005 {source="DOID:1398"}
xref: SCTID:312418006 {source="EFO:0001067"}
xref: SCTID:56733003 {source="EFO:0001067"}
xref: SCTID:57100005 {source="EFO:0001067", source="DOID:1398"}
xref: UMLS:C0747256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196662"}
is_a: MONDO:0005550 {source="DOID:1398", source="EFO:0001067", source="NCIT:C27864"} ! infectious disease
disjoint_from: MONDO:0005247 ! bacterial urinary tract infection

[Term]
id: MONDO:0005136
name: malaria
def: "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired." [https://rarediseases.info.nih.gov/diseases/6961/malaria]
subset: gard_rare {source="GARD:6961", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1395"}
subset: ordo_disorder {source="Orphanet:673"}
subset: orphanet_rare {source="Orphanet:673"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "induced malaria" NARROW EXCLUDE [DOID:12365]
synonym: "plasmodiosis" RELATED []
xref: DOID:12365 {source="EFO:0001068", source="MONDO:equivalentTo"}
xref: EFO:0001068 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6961 {source="MONDO:GARD"}
xref: ICD10CM:B50.0 {source="Orphanet:673/btnt"}
xref: ICD10CM:B50.8 {source="Orphanet:673/btnt"}
xref: ICD10CM:B50.9 {source="Orphanet:673/btnt"}
xref: ICD10CM:B51.0 {source="Orphanet:673/btnt"}
xref: ICD10CM:B51.8 {source="Orphanet:673/btnt"}
xref: ICD10CM:B51.9 {source="Orphanet:673/btnt"}
xref: ICD10CM:B52.0 {source="Orphanet:673/btnt"}
xref: ICD10CM:B52.8 {source="Orphanet:673/btnt"}
xref: ICD10CM:B52.9 {source="Orphanet:673/btnt"}
xref: ICD10CM:B53 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: ICD10CM:B53.0 {source="MONDO:relatedTo", source="Orphanet:673/btnt"}
xref: ICD10CM:B53.1 {source="Orphanet:673/btnt"}
xref: ICD10CM:B53.8 {source="Orphanet:673/btnt"}
xref: ICD10CM:B54 {source="Orphanet:673/btnt", source="DOID:12365", source="Orphanet:673", source="https://orcid.org/0000-0002-6601-2165"}
xref: ICD9:084 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"}
xref: ICD9:084.6 {source="DOID:12365"}
xref: MedDRA:10025487 {source="Orphanet:673/e", source="Orphanet:673"}
xref: MEDGEN:7443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008288 {source="EFO:0001068", source="Orphanet:673/e", source="MONDO:equivalentTo", source="DOID:12365", source="Orphanet:673"}
xref: NCIT:C34797 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"}
xref: NORD:1395 {source="MONDO:NORD"}
xref: Orphanet:673 {source="MONDO:equivalentTo", source="OMIM:611162"}
xref: SCTID:105649009 {source="DOID:12365"}
xref: SCTID:154374002 {source="DOID:12365"}
xref: SCTID:186797008 {source="DOID:12365"}
xref: SCTID:187510004 {source="DOID:12365"}
xref: SCTID:248437004 {source="DOID:12365"}
xref: SCTID:61462000 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"}
xref: UMLS:C0024530 {source="MEDGEN:7443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002428 {source="DOID:12365", source="MESH:D008288"} ! protozoa infectious disease
is_a: MONDO:0005135 {source="DOID:12365/inferred", source="EFO:0001068", source="MESH:D008288/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C34797", source="Orphanet:673"} ! parasitic infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature HP:0001903 {source="MONDO:Wikidata"} ! Anemia
relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia
relationship: disease_has_infectious_agent NCBITaxon:5820 {source="MONDO:Wikidata"} ! Plasmodium
relationship: disease_has_location CL:0000232 {source="EFO:0000784"} ! erythrocyte
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6961/malaria" xsd:anyURI {source="GARD:0006961"}

[Term]
id: MONDO:0005137
name: nutritional disorder
def: "Any condition related to a disturbance between proper intake and utilization of nourishment." [NCIT:C26836]
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "nutrition disease" RELATED [DOID:374]
synonym: "nutritional disorder" EXACT [DOID:374, NCIT:C26836]
xref: DOID:374 {source="EFO:0001069", source="MONDO:equivalentTo"}
xref: EFO:0001069 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E00-E89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:783.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:811347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009748 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374"}
xref: MESH:D044342 {source="EFO:0001069"}
xref: NCIT:C26836 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374", source="MONDO:exact-label-match"}
xref: SCTID:191077005 {source="DOID:374"}
xref: SCTID:2492009 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374"}
xref: UMLS:C3714509 {source="MEDGEN:811347", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/3155", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! disease
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease
relationship: excluded_subClassOf MONDO:0005066 {source="NCIT:C26836", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
relationship: excluded_subClassOf MONDO:0006504 {source="DOID:374", source="https://orcid.org/0000-0001-5208-3432"} ! acquired metabolic disease

[Term]
id: MONDO:0005138
name: lung carcinoma
def: "A carcinoma that arises from epithelial cells of the lung" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of lung" BROAD [DOID:3905, NCIT:C4878]
synonym: "cancer of the lung" BROAD [NCIT:C4878]
synonym: "carcinoma of lung" EXACT [DOID:3905, MONDO:patterns/carcinoma, NCIT:C4878]
synonym: "carcinoma of the lung" EXACT [NCIT:C4878]
synonym: "lung cancer" BROAD [NCIT:C4878]
synonym: "lung cancer, NOS" BROAD [NCIT:C4878]
synonym: "lung carcinoma" EXACT [MONDO:patterns/location, NCIT:C4878]
xref: DOID:3905 {source="MONDO:equivalentTo", source="EFO:0001071"}
xref: EFO:0001071 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C34.90 {source="DOID:3905"}
xref: MEDGEN:195765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008175 {source="EFO:0001071"}
xref: NCIT:C4878 {source="MONDO:equivalentTo", source="EFO:0001071", source="DOID:3905"}
xref: SCTID:154485001 {source="DOID:3905"}
xref: SCTID:187875007 {source="DOID:3905"}
xref: SCTID:269561006 {source="DOID:3905"}
xref: SCTID:448993007 {source="EFO:0001071"}
xref: UMLS:C0684249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195765"}
is_a: MONDO:0004993 {source="DOID:3905", source="EFO:0001071", source="MONDO:Redundant", source="NCIT:C4878"} ! carcinoma
is_a: MONDO:0008903 {source="DOID:3905", source="MONDO:Redundant", source="NCIT:C4878"} ! lung cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: disease_has_feature HP:0001824 ! Weight loss
relationship: disease_has_feature HP:0002105 ! Hemoptysis
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung

[Term]
id: MONDO:0005139
name: morbid obesity
def: "An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "severe obesity" EXACT [DOID:11981]
xref: DOID:11981 {source="MONDO:equivalentTo", source="EFO:0001074"}
xref: EFO:0001074 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:278.01 {source="DOID:11981", source="EFO:0001074"}
xref: MEDGEN:18128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009767 {source="MONDO:equivalentTo", source="DOID:11981", source="EFO:0001074"}
xref: NCIT:C34858 {source="MONDO:otherHierarchy", source="DOID:11981", source="EFO:0001074"}
xref: NIFSTD:nlx_dys_20090303 {source="EFO:0001074"}
xref: SCTID:190967003 {source="DOID:11981"}
xref: SCTID:238136002 {source="DOID:11981", source="EFO:0001074"}
xref: SCTID:389986000 {source="DOID:11981"}
xref: SCTID:83911000119104 {source="MONDO:equivalentTo", source="DOID:11981"}
xref: UMLS:C0028756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18128"}
is_a: MONDO:0011122 {source="DOID:11981", source="EFO:0001074"} ! obesity disorder

[Term]
id: MONDO:0005140
name: ovarian carcinoma
def: "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002" [NCIT:C4908]
comment: Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT.
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of ovary" EXACT [MONDO:patterns/carcinoma, NCIT:C4908]
synonym: "carcinoma of the ovary" EXACT [NCIT:C4908]
synonym: "epithelial ovarian cancer" EXACT [NCIT:C4908]
synonym: "ovarian cancer" BROAD [NCIT:C4908]
synonym: "ovarian carcinoma" EXACT [DOID:4001, NCIT:C4908]
synonym: "ovarian epithelial cancer" BROAD [NCIT:C4908]
synonym: "ovary carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4001 {source="EFO:0001075", source="MONDO:equivalentTo"}
xref: EFO:0001075 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1648335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538090 {source="DOID:4001"}
xref: MESH:D010051 {source="EFO:0001075"}
xref: NCIT:C4908 {source="DOID:4001", source="EFO:0001075", source="MONDO:equivalentTo"}
xref: UMLS:C4721610 {source="MEDGEN:1648335", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002229 {source="DOID:4001/inferred", source="MONDO:0005140/inferred", source="MONDO:Redundant", source="NCIT:C4908/inferred"} ! ovarian epithelial tumor
is_a: MONDO:0004993 {source="EFO:0001075", source="MONDO:0005140/inferred", source="MONDO:Entailed", source="NCIT:C4908"} ! carcinoma
is_a: MONDO:0008170 {source="DOID:4001/inferred", source="MONDO:0005140/inferred", source="MONDO:Entailed", source="NCIT:C4908/inferred"} ! ovarian cancer
is_a: MONDO:0018364 {source="DOID:4001", source="MONDO:Redundant", source="NCIT:C4908"} ! malignant epithelial tumor of ovary

[Term]
id: MONDO:0005141
name: Pseudomonas infection
def: "Infections with bacteria of the genus pseudomonas." [MESH:D011552]
subset: otar {source="MONDO:OTAR"}
synonym: "Pseudomonas caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pseudomonas disease or disorder" EXACT []
synonym: "Pseudomonas infectious disease" EXACT []
xref: EFO:0001076 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:041.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011552 {source="EFO:0001076", source="MONDO:equivalentTo"}
xref: SCTID:63398001 {source="EFO:0001076", source="MONDO:equivalentTo"}
xref: UMLS:C0033817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10993"}
is_a: MONDO:0005113 {source="EFO:0001076", source="MESH:D011552/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:286 ! Pseudomonas

[Term]
id: MONDO:0005142
name: Pseudomonas aeruginosa CF5 infection
def: "A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." [EFO:0001077]
is_a: MONDO:0005141 {source="EFO:0001077", source="MONDO:indirect"} ! Pseudomonas infection
is_a: MONDO:0040732 {source="MONDO:Redundant"} ! Pseudomonas aeruginosa infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1402491 ! Pseudomonas aeruginosa CF5

[Term]
id: MONDO:0005143
name: Pseudomonas aeruginosa PA14 infection
def: "A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14." [EFO:0001078]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0001078 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005141 {source="EFO:0001078", source="MONDO:indirect"} ! Pseudomonas infection
is_a: MONDO:0040732 {source="MONDO:Redundant"} ! Pseudomonas aeruginosa infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:652611 ! Pseudomonas aeruginosa PA14

[Term]
id: MONDO:0005144
name: familial amyotrophic lateral sclerosis
def: "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary amyotrophic lateral sclerosis" EXACT [MONDO:patterns/hereditary]
xref: EFO:0001356 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1642547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:105400 {source="MONDO:equivalentTo", source="DOID:332"}
xref: UMLS:C4551993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642547"}
is_a: MONDO:0004976 {source="EFO:0001356", source="MONDO:Redundant"} ! amyotrophic lateral sclerosis
intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
disjoint_from: MONDO:0005145 ! sporadic amyotrophic lateral sclerosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105400"} ! inherited

[Term]
id: MONDO:0005145
name: sporadic amyotrophic lateral sclerosis
def: "Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." [EFO:0001357]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080917 {source="MONDO:equivalentTo"}
xref: EFO:0001357 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:400171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1862941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400171"}
is_a: MONDO:0004976 {source="EFO:0001357"} ! amyotrophic lateral sclerosis

[Term]
id: MONDO:0005146
name: post-traumatic stress disorder
def: "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "combat neurosis" NARROW [NCIT:C3389]
synonym: "post-traumatic stress disorder" EXACT [DOID:2055]
synonym: "PTSD" EXACT ABBREVIATION [NCIT:C3389]
synonym: "traumatic neurosis" EXACT [DOID:2055]
xref: DOID:2055 {source="MONDO:equivalentTo", source="EFO:0001358"}
xref: EFO:0001358 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F43.1 {source="DOID:2055"}
xref: ICD10CM:F43.10 {source="DOID:2055"}
xref: ICD9:309.81 {source="DOID:2055", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0001358"}
xref: MEDGEN:21345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013313 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358"}
xref: NCIT:C3389 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358"}
xref: NIFSTD:birnlex_12679 {source="EFO:0001358"}
xref: SCTID:192415000 {source="DOID:2055"}
xref: SCTID:313182004 {source="EFO:0001358"}
xref: SCTID:47505003 {source="DOID:2055", source="MONDO:equivalentTo", source="EFO:0001358"}
xref: UMLS:C0038436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21345"}
is_a: MONDO:0005379 {source="NCIT:C3389"} ! neurotic disorder
is_a: MONDO:0005618 {source="DOID:2055", source="EFO:0001358", source="NCIT:C3389/inferred"} ! anxiety disorder

[Term]
id: MONDO:0005147
name: type 1 diabetes mellitus
def: "A chronic condition characterized by minimal or absent production of insulin by the pancreas." [NCIT:C2986]
subset: otar {source="MONDO:OTAR"}
synonym: "diabetes mellitis type 1" EXACT []
synonym: "diabetes mellitis type I" EXACT []
synonym: "IDDM" EXACT DEPRECATED [DOID:9744]
synonym: "immune mediated diabetes" EXACT [NCIT:C2986]
synonym: "insulin dependent diabetes" EXACT DEPRECATED [NCIT:C2986]
synonym: "insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9744, Orphanet:243377]
synonym: "juvenile diabetes" EXACT DEPRECATED [NCIT:C2986]
synonym: "T1D" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397]
synonym: "T1DM" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397]
synonym: "type 1 diabetes" EXACT [NCIT:C2986]
synonym: "type I diabetes" EXACT [NCIT:C2986]
synonym: "type I diabetes mellitus" EXACT [DOID:9744]
xref: DOID:9744 {source="MONDO:equivalentTo", source="EFO:0001359"}
xref: ICD10CM:E10 {source="DOID:9744"}
xref: MEDGEN:41522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003922 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"}
xref: NANDO:2200460 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2986 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"}
xref: OMIM:222100 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"}
xref: Orphanet:243377 {source="MONDO:equivalentObsolete"}
xref: SCTID:11530004 {source="EFO:0001359"}
xref: SCTID:154673001 {source="DOID:9744"}
xref: SCTID:190322003 {source="DOID:9744"}
xref: SCTID:190362004 {source="DOID:9744"}
xref: SCTID:267469001 {source="DOID:9744"}
xref: SCTID:46635009 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"}
xref: UMLS:C0011854 {source="MEDGEN:41522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005015 {source="DOID:9744", source="EFO:0001359", source="MESH:D003922", source="NCIT:C2986"} ! diabetes mellitus
is_a: MONDO:0007179 {source="EFO:0001359", source="MESH:D003922", source="NCIT:C2986"} ! autoimmune disease
relationship: disease_arises_from_feature HP:0006476 ! Abnormality of the pancreatic islet cells
relationship: disease_has_basis_in_disruption_of GO:0035773 ! insulin secretion involved in cellular response to glucose stimulus
relationship: disease_has_basis_in_dysfunction_of CL:0000169 ! type B pancreatic cell
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7275" xsd:anyURI

[Term]
id: MONDO:0005148
name: type 2 diabetes mellitus
def: "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adult onset diabetes" EXACT DEPRECATED [NCIT:C26747]
synonym: "adult-onset diabetes" EXACT DEPRECATED [NCIT:C26747]
synonym: "diabetes mellitis type 2" EXACT []
synonym: "diabetes mellitis type II" EXACT []
synonym: "diabetes mellitus, non-insulin-dependent, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2]
synonym: "diabetes mellitus, noninsulin-dependent" EXACT [MONDO:Lexical, OMIM:125853]
synonym: "diabetes mellitus, noninsulin-dependent, 2" NARROW [OMIM:125853, OMIM:genemap2]
synonym: "diabetes mellitus, noninsulin-dependent, association with" EXACT [OMIM:125853, OMIM:genemap2]
synonym: "diabetes mellitus, noninsulin-dependent, late onset" EXACT [OMIM:125853, OMIM:genemap2]
synonym: "diabetes mellitus, noninsulin-dependent, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2]
synonym: "diabetes mellitus, type 2" EXACT [OMIM:125853]
synonym: "diabetes mellitus, type 2, protection against" RELATED [OMIM:125853]
synonym: "diabetes mellitus, type 2, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2]
synonym: "diabetes mellitus, type II" EXACT [OMIM:125853, OMIM:genemap2]
synonym: "diabetes mellitus, type II, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2]
synonym: "diabetes, type 2" EXACT [NCIT:C26747]
synonym: "hypertension, insulin resistance-related, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2]
synonym: "insulin resistance, severe, digenic" EXACT [OMIM:125853, OMIM:genemap2]
synonym: "insulin resistance, susceptibility to" RELATED [OMIM:125853]
synonym: "maturity-onset diabetes" RELATED [OMIM:125853]
synonym: "NIDDM" EXACT DEPRECATED [DOID:9352, MONDO:Lexical, NCIT:C26747, OMIM:125853]
synonym: "non-insulin dependent diabetes" EXACT DEPRECATED [NCIT:C26747]
synonym: "non-insulin dependent diabetes mellitus" EXACT DEPRECATED [NCIT:C26747]
synonym: "non-insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9352]
synonym: "noninsulin dependent diabetes" EXACT DEPRECATED [NCIT:C26747]
synonym: "noninsulin-dependent diabetes mellitus" EXACT [OMIM:125853]
synonym: "T2D" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397]
synonym: "T2DM" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397]
synonym: "T2DM - type 2 diabetes mellitus" EXACT [NCIT:C26747]
synonym: "type 2 diabetes" EXACT [NCIT:C26747]
synonym: "type 2 diabetes mellitus" EXACT [NCIT:C26747]
synonym: "type 2 diabetes mellitus non-insulin dependent" EXACT [NCIT:C26747]
synonym: "type 2 diabetes mellitus, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2]
synonym: "type II diabetes" EXACT [NCIT:C26747]
synonym: "type II diabetes mellitus" EXACT [DOID:9352, NCIT:C26747]
xref: DOID:9352 {source="MONDO:equivalentTo", source="EFO:0001360"}
xref: ICD10CM:E11 {source="DOID:9352"}
xref: MEDGEN:41523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003924 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"}
xref: NANDO:2200461 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26747 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"}
xref: OMIM:125853 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"}
xref: SCTID:154672006 {source="DOID:9352"}
xref: SCTID:190323008 {source="DOID:9352"}
xref: SCTID:190384004 {source="DOID:9352"}
xref: SCTID:267468009 {source="DOID:9352"}
xref: SCTID:44054006 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"}
xref: UMLS:C0011860 {source="MEDGEN:41523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005015 {source="DOID:9352", source="EFO:0001360", source="MESH:D003924", source="NCIT:C26747"} ! diabetes mellitus
relationship: disease_disrupts GO:0030073 ! insulin secretion
relationship: disease_disrupts GO:0044381 ! glucose import in response to insulin stimulus
relationship: disease_has_feature HP:0000855 ! Insulin resistance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7275" xsd:anyURI

[Term]
id: MONDO:0005149
name: pulmonary hypertension
def: "Increased pressure within the pulmonary circulation due to lung or heart disorder." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:6432 {source="EFO:0001361", source="MONDO:equivalentTo"}
xref: ICD10CM:I27.2 {source="DOID:6432"}
xref: MedDRA:10037400
xref: MEDGEN:9376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006976 {source="DOID:6432", source="EFO:0001361", source="MONDO:equivalentTo"}
xref: NCIT:C3120 {source="DOID:6432", source="EFO:0001361", source="MONDO:otherHierarchy"}
xref: SCTID:155328008 {source="DOID:6432"}
xref: SCTID:266293003 {source="DOID:6432"}
xref: SCTID:70995007 {source="DOID:6432", source="EFO:0001361", source="MONDO:equivalentTo"}
xref: UMLS:C0020542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9376"}
is_a: MONDO:0005044 {source="DOID:6432", source="EFO:0001361"} ! hypertensive disorder
relationship: disease_has_location UBERON:0002012 {source="EFO:0000784"} ! pulmonary artery
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4614" xsd:anyURI

[Term]
id: MONDO:0005150
name: age-related macular degeneration
def: "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." [NCIT:P378]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "age related macular degeneration" RELATED [DOID:10871]
synonym: "age related Maculopathies" EXACT [DOID:10871]
synonym: "age related maculopathy" EXACT [DOID:10871]
synonym: "age-related macular degeneration" EXACT [DOID:10871]
synonym: "AMD" EXACT ABBREVIATION [NCIT:C84391]
synonym: "ARMD" EXACT ABBREVIATION [NCIT:C84391]
synonym: "macular degeneration, age-related" EXACT [OMIMPS:603075]
synonym: "Senile macular degeneration" EXACT [DOID:10871]
synonym: "Senile macular retinal degeneration" EXACT [DOID:10871]
xref: DOID:10871 {source="EFO:0001365", source="MONDO:equivalentTo"}
xref: EFO:0001365 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H35.30 {source="DOID:10871"}
xref: ICD9:362.50 {source="DOID:10871"}
xref: MEDGEN:116576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008268 {source="EFO:0001365", source="DOID:10871"}
xref: NCIT:C25416 {source="EFO:0001365", source="MONDO:otherHierarchy"}
xref: NCIT:C84391 {source="EFO:0001365", source="MONDO:equivalentTo", source="DOID:10871"}
xref: NIFSTD:birnlex_12812 {source="EFO:0001365"}
xref: OMIMPS:603075 {source="MONDO:equivalentTo", source="DOID:10871"}
xref: Orphanet:279 {source="MONDO:equivalentObsolete", source="https://github.com/monarch-initiative/monarch-disease-ontology/issues/413"}
xref: SCTID:155112007 {source="DOID:10871"}
xref: SCTID:18222007 {source="DOID:10871"}
xref: SCTID:193384000 {source="DOID:10871"}
xref: SCTID:193385004 {source="DOID:10871"}
xref: SCTID:267718000 {source="EFO:0001365", source="MONDO:equivalentTo", source="DOID:10871"}
xref: SCTID:302891003 {source="DOID:10871"}
xref: UMLS:C0242383 {source="MEDGEN:116576", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002175 {source="DOID:10871"} ! degeneration of macula and posterior pole
is_a: MONDO:0003004 {source="DOID:10871/inferred", source="MONDO:Redundant", source="NCIT:C84391"} ! macular degeneration
relationship: disease_has_location UBERON:0010230 ! eyeball of camera-type eye
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603075"} ! inherited

[Term]
id: MONDO:0005151
name: endocrine system disorder
def: "A disease involving the endocrine system." [https://orcid.org/0000-0002-6601-2165]
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of endocrine system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of endocrine system" EXACT []
synonym: "disorder of endocrine system" EXACT [MONDO:patterns/location_top, NCIT:C3009]
synonym: "endocrine disease" EXACT [DOID:28, NCIT:C3009]
synonym: "endocrine disorder" EXACT [NCIT:C3009]
synonym: "endocrine system disease" EXACT [MONDO:patterns/location]
synonym: "endocrine system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "endocrine system disorder" EXACT [NCIT:C3009]
synonym: "endocrinopathy" EXACT [NCIT:C3009]
synonym: "thyroid or other glandular disorders" EXACT [NCIT:C3009]
xref: DOID:28 {source="EFO:0001379", source="MONDO:equivalentTo"}
xref: EFO:0001379 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E00-E89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:E20-E35 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:E34.9 {source="DOID:28"}
xref: ICD10CM:P70-P74 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:259.9 {source="EFO:0001379", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:28"}
xref: MEDGEN:4043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004700 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28"}
xref: NANDO:1100009 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100109 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3009 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28"}
xref: SCTID:118639003 {source="DOID:28"}
xref: SCTID:127345001 {source="DOID:28"}
xref: SCTID:154648001 {source="DOID:28"}
xref: SCTID:154690007 {source="DOID:28"}
xref: SCTID:154718007 {source="DOID:28"}
xref: SCTID:190231001 {source="DOID:28"}
xref: SCTID:190594008 {source="DOID:28"}
xref: SCTID:267462005 {source="DOID:28"}
xref: SCTID:267475005 {source="DOID:28"}
xref: SCTID:267489000 {source="DOID:28"}
xref: SCTID:362969004 {source="EFO:0001379", source="MONDO:equivalentTo", source="DOID:28"}
xref: SCTID:67432001 {source="DOID:28"}
xref: SCTID:84452004 {source="EFO:0001379"}
xref: UMLS:C0014130 {source="MEDGEN:4043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/2741", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0000949 ! endocrine system
relationship: excluded_subClassOf MONDO:0021199 {source="DOID:28", source="MONDO:Entailed", source="MONDO:metaclass", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disease by anatomical system

[Term]
id: MONDO:0005152
name: hypopituitarism
def: "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions." [NCIT:C62591]
subset: otar {source="MONDO:OTAR"}
synonym: "pituitary hormone deficiency" EXACT [DOID:9406]
synonym: "pituitary hypofunction" RELATED [DOID:9406]
synonym: "pituitary insufficiency" EXACT [DOID:9406]
xref: DOID:9406 {source="MONDO:equivalentTo", source="EFO:0001380"}
xref: EFO:0001380 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E23.0 {source="DOID:9406", source="MONDO:equivalentTo"}
xref: MEDGEN:9386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007018 {source="DOID:9406", source="MONDO:equivalentTo", source="EFO:0001380"}
xref: NANDO:1200387 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100110 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C62591 {source="DOID:9406", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0001380"}
xref: Orphanet:95494 {source="MONDO:relatedTo", source="DOID:9406"}
xref: SCTID:154703006 {source="DOID:9406"}
xref: SCTID:190469009 {source="DOID:9406"}
xref: SCTID:237681002 {source="DOID:9406"}
xref: SCTID:267482009 {source="DOID:9406"}
xref: SCTID:74728003 {source="DOID:9406", source="MONDO:equivalentTo", source="EFO:0001380"}
xref: UMLS:C0020635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9386"}
is_a: MONDO:0003381 {source="DOID:9406", source="MESH:D007018"} ! pituitary gland disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism" xsd:anyURI {source="GARD:0002917"}

[Term]
id: MONDO:0005153
name: cervical adenocarcinoma
def: "An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type." [NCIT:C4029]
subset: gard_rare {source="GARD:20488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213772"}
subset: orphanet_rare {source="Orphanet:213772"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma - cervix" EXACT [NCIT:C4029]
synonym: "adenocarcinoma cervix uteri" EXACT [DOID:3702]
synonym: "adenocarcinoma of cervix" EXACT [NCIT:C4029]
synonym: "adenocarcinoma of cervix uteri" EXACT [NCIT:C4029]
synonym: "adenocarcinoma of the cervix" EXACT [NCIT:C4029]
synonym: "adenocarcinoma of the cervix uteri" EXACT [NCIT:C4029]
synonym: "adenocarcinoma of the uterine cervix" EXACT [DOID:3702, NCIT:C4029]
synonym: "adenocarcinoma of uterine cervix" EXACT [NCIT:C4029]
synonym: "cervical adenocarcinoma" EXACT [NCIT:C4029, Orphanet:213772]
synonym: "cervical adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C4029]
synonym: "cervical adenocarcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4029]
synonym: "cervix adenocarcinoma" EXACT [NCIT:C4029]
synonym: "cervix uteri adenocarcinoma" EXACT [NCIT:C4029]
synonym: "uterine cervix adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4029]
xref: DOID:3702 {source="MONDO:equivalentTo", source="EFO:0001416"}
xref: EFO:0001416 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20488 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="Orphanet:213772", source="MONDO:relatedTo", source="Orphanet:213772/btnt"}
xref: ICD10CM:C53.1 {source="Orphanet:213772", source="Orphanet:213772/btnt"}
xref: ICD10CM:C53.8 {source="Orphanet:213772", source="Orphanet:213772/btnt"}
xref: icd11.foundation:261293318 {source="Orphanet:213772", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:79024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002583 {source="EFO:0001416"}
xref: NCIT:C4029 {source="MONDO:equivalentTo", source="DOID:3702", source="EFO:0001416"}
xref: ONCOTREE:CEAD {source="MONDO:equivalentTo"}
xref: Orphanet:213772 {source="MONDO:equivalentTo"}
xref: SCTID:154522004 {source="DOID:3702"}
xref: SCTID:254887002 {source="MONDO:equivalentTo", source="DOID:3702", source="EFO:0001416"}
xref: SCTID:269596006 {source="DOID:3702"}
xref: UMLS:C0279672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79024"}
is_a: MONDO:0004970 {source="EFO:0001416", source="MONDO:0005153/inferred", source="MONDO:Redundant", source="NCIT:C4029"} ! adenocarcinoma
is_a: MONDO:0005131 {source="DOID:3702", source="MONDO:0005153/inferred", source="MONDO:Redundant", source="NCIT:C4029"} ! cervical carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: disease_has_location UBERON:0000002 {source="EFO:0000784"} ! uterine cervix
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4897" xsd:anyURI

[Term]
id: MONDO:0005154
name: liver disorder
def: "A disease involving the liver." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of liver" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of liver" EXACT []
synonym: "disorder of liver" EXACT [MONDO:patterns/location_top]
synonym: "hepatic disease" EXACT [DOID:409]
synonym: "hepatic disorder" EXACT [DOID:409, NCIT:C3196]
synonym: "liver and intrahepatic bile duct disorder" EXACT [NCIT:C3196]
synonym: "liver disease" EXACT [MONDO:patterns/location]
synonym: "liver disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "liver disorder" EXACT [NCIT:C3196]
xref: DOID:409 {source="EFO:0001421", source="MONDO:equivalentTo"}
xref: EFO:0001421 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K70-K77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:409", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K76.9 {source="DOID:409"}
xref: ICD9:573.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:573.9 {source="EFO:0001421", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:409"}
xref: MEDGEN:893061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008107 {source="EFO:0001421", source="MONDO:equivalentTo", source="DOID:409"}
xref: NCIT:C3196 {source="EFO:0001421", source="MONDO:equivalentTo", source="DOID:409"}
xref: NCIT:C50634 {source="EFO:0001421", source="MONDO:otherHierarchy"}
xref: SCTID:15230009 {source="EFO:0001421"}
xref: SCTID:155807008 {source="DOID:409"}
xref: SCTID:155817003 {source="DOID:409"}
xref: SCTID:155822003 {source="DOID:409"}
xref: SCTID:197375001 {source="DOID:409"}
xref: SCTID:197551000 {source="DOID:409"}
xref: SCTID:199117000 {source="EFO:0001421"}
xref: SCTID:235856003 {source="EFO:0001421", source="MONDO:equivalentTo", source="DOID:409"}
xref: SCTID:266535008 {source="DOID:409"}
xref: SCTID:62857009 {source="DOID:409"}
xref: UMLS:C4021780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:893061"}
is_a: MONDO:0002515 {source="DOID:409", source="MONDO:Redundant", source="NCIT:C3196"} ! hepatobiliary disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0005155
name: cirrhosis of liver
def: "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cirrhosis" EXACT [DOID:5082]
synonym: "cirrhosis of liver" EXACT [DOID:5082]
synonym: "liver cirrhosis" RELATED [DOID:5082]
xref: DOID:5082 {source="MONDO:equivalentTo", source="EFO:0001422"}
xref: EFO:0001422 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K74.60 {source="DOID:5082"}
xref: ICD9:571.5 {source="EFO:0001422"}
xref: MEDGEN:7368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008103 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082"}
xref: NANDO:2100268 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200937 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2951 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082"}
xref: SCTID:155809006 {source="DOID:5082"}
xref: SCTID:197309008 {source="DOID:5082"}
xref: SCTID:19943007 {source="MONDO:equivalentTo", source="EFO:0001422", source="DOID:5082"}
xref: SCTID:235891006 {source="DOID:5082"}
xref: SCTID:266537000 {source="DOID:5082"}
xref: UMLS:C0023890 {source="MEDGEN:7368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005154 {source="DOID:5082", source="EFO:0001422", source="EFO:0001422/inferred", source="MESH:D008103", source="NCIT:C2951/inferred"} ! liver disorder

[Term]
id: MONDO:0005156
name: encephalomyelitis
def: "Inflammation of the brain and the spinal cord." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "central nervous system inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "encephalitis &/or myelitis" EXACT [DOID:640]
synonym: "encephalitis and/or myelitis" EXACT [DOID:640]
synonym: "inflammation of central nervous system" EXACT []
xref: DOID:640 {source="EFO:0001423", source="MONDO:equivalentTo"}
xref: EFO:0001423 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004679 {source="EFO:0001423", source="MONDO:equivalentTo", source="DOID:640"}
xref: NCIT:C34580 {source="EFO:0001423", source="MONDO:equivalentTo", source="DOID:640"}
xref: SCTID:154991009 {source="DOID:640"}
xref: SCTID:192682002 {source="DOID:640"}
xref: SCTID:192735003 {source="DOID:640"}
xref: SCTID:192736002 {source="DOID:640"}
xref: SCTID:230196000 {source="DOID:640"}
xref: SCTID:267682000 {source="DOID:640"}
xref: SCTID:267684004 {source="DOID:640"}
xref: SCTID:286936006 {source="DOID:640"}
xref: SCTID:62950007 {source="EFO:0001423", source="MONDO:equivalentTo", source="DOID:640"}
xref: UMLS:C0014070 {source="MONDO:equivalentTo", source="MEDGEN:8603", source="MONDO:MEDGEN"}
is_a: MONDO:0002602 {source="DOID:640", source="MESH:D004679", source="MESH:D004679/inferred", source="MONDO:Redundant", source="NCIT:C34580/inferred"} ! central nervous system disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C34580/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001017 ! central nervous system
relationship: disease_has_location UBERON:0001017 {source="EFO:0000784"} ! central nervous system

[Term]
id: MONDO:0005157
name: lymphoid neoplasm
def: "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms." [NCIT:C7065]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphocytic and plasma cell neoplasm" EXACT [NCIT:C7065]
synonym: "lymphocytic and plasma cell tumor" EXACT [NCIT:C7065]
synonym: "lymphocytic and plasma cell tumour" EXACT OMO:0003005 []
synonym: "lymphocytic and plasmacytic neoplasm" EXACT [NCIT:C7065]
synonym: "lymphocytic neoplasm" EXACT [NCIT:C7065]
synonym: "lymphocytic tumor" EXACT [NCIT:C7065]
synonym: "lymphocytic tumour" EXACT OMO:0003005 []
synonym: "lymphoid and plasma cell tumor" EXACT [NCIT:C7065]
synonym: "lymphoid and plasma cell tumour" EXACT OMO:0003005 []
synonym: "lymphoid and plasmacytic neoplasm" EXACT [NCIT:C7065]
synonym: "lymphoid and plasmacytic tumor" EXACT [NCIT:C7065]
synonym: "lymphoid and plasmacytic tumour" EXACT OMO:0003005 []
synonym: "lymphoid neoplasm" EXACT [NCIT:C7065]
synonym: "lymphoid tumor" EXACT [NCIT:C7065]
synonym: "lymphoid tumour" EXACT OMO:0003005 []
xref: EFO:0001642 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:200.7 {source="EFO:0001642"}
xref: MEDGEN:108626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016403 {source="EFO:0001642"}
xref: NCIT:C13252 {source="ONCOTREE:LYMPH"}
xref: NCIT:C7065 {source="MONDO:equivalentTo", source="EFO:0001642"}
xref: ONCOTREE:LYMPH {source="MONDO:equivalentTo"}
xref: SCTID:414628006 {source="EFO:0001642"}
xref: UMLS:C0598798 {source="MONDO:equivalentTo", source="MEDGEN:108626", source="MONDO:MEDGEN"}
is_a: MONDO:0044881 {source="NCIT:C7065"} ! hematopoietic and lymphoid cell neoplasm

[Term]
id: MONDO:0005158
name: obsolete coronary heart disease
is_obsolete: true
replaced_by: MONDO:0005010

[Term]
id: MONDO:0005159
name: prostate carcinoma
def: "A carcinoma that arises from epithelial cells of the prostate gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of prostate" NARROW [NCIT:C4863]
synonym: "cancer of the prostate" NARROW [NCIT:C4863]
synonym: "carcinoma of prostate" EXACT [NCIT:C4863]
synonym: "carcinoma of prostate gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the prostate" EXACT [NCIT:C4863]
synonym: "prostate cancer" NARROW [NCIT:C4863]
synonym: "prostate cancer, NOS" NARROW [NCIT:C4863]
synonym: "prostate carcinoma" EXACT [NCIT:C4863]
synonym: "prostate gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:10286 {source="EFO:0001663", source="MONDO:equivalentTo"}
xref: EFO:0001663 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:108657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4863 {source="EFO:0001663", source="MONDO:equivalentTo", source="DOID:10286"}
xref: SCTID:154531004 {source="DOID:10286"}
xref: SCTID:254900004 {source="EFO:0001663", source="DOID:10286"}
xref: SCTID:363448003 {source="DOID:10286"}
xref: UMLS:C0600139 {source="MEDGEN:108657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="DOID:10286", source="EFO:0001663", source="MONDO:Redundant", source="NCIT:C4863"} ! carcinoma
is_a: MONDO:0008315 {source="DOID:10286", source="MONDO:Redundant", source="NCIT:C4863"} ! prostate cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland
relationship: disease_has_location UBERON:0002367 {source="EFO:0000784"} ! prostate gland

[Term]
id: MONDO:0005160
name: aortic aneurysm
def: "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "abdominal aortic aneurysm, ruptured" EXACT [DOID:3627, ICD9CM:441.3]
synonym: "aortic aneurysm" EXACT [MONDO:ambiguous]
synonym: "aortic aneurysm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "aortic aneurysm of unspecified site, ruptured" EXACT [DOID:3627, ICD9CM:441.5]
synonym: "ruptured abdominal aortic aneurysm" EXACT [DOID:3627, NCIT:C27046]
synonym: "ruptured aortic aneurysm" EXACT [DOID:3627, NCIT:C27198]
synonym: "ruptured aortic aneurysm NOS" RELATED EXCLUDE [DOID:3627]
synonym: "ruptured thoracic aneurysm" EXACT [DOID:3627, NCIT:C27299]
synonym: "ruptured thoracic aortic aneurysm" EXACT [DOID:3627]
synonym: "ruptured thoracoabdominal aortic aneurysm" EXACT [DOID:3627]
synonym: "thoracic aortic aneurysm which HAS ruptured" EXACT [DOID:3627]
synonym: "thoracic aortic aneurysm, ruptured" EXACT [DOID:3627, ICD9CM:441.1]
synonym: "thoracoabdominal aortic aneurysm, ruptured" EXACT [DOID:3627]
xref: DOID:3627 {source="MONDO:equivalentTo", source="EFO:0001666"}
xref: EFO:0001666 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0004942 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I71.1 {source="DOID:3627"}
xref: ICD10CM:I71.3 {source="DOID:3627"}
xref: ICD10CM:I71.5 {source="DOID:3627"}
xref: ICD10CM:I71.8 {source="DOID:3627"}
xref: ICD10CM:I71.9 {source="DOID:3627"}
xref: ICD9:441.1 {source="DOID:3627"}
xref: ICD9:441.3 {source="DOID:3627"}
xref: ICD9:441.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3627"}
xref: ICD9:441.6 {source="DOID:3627"}
xref: MEDGEN:362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001014 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="EFO:0001666", source="DOID:3627"}
xref: MESH:D001019 {source="DOID:3627"}
xref: NANDO:2100101 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200294 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26697 {source="MONDO:otherHierarchy", source="EFO:0001666", source="DOID:3627"}
xref: NCIT:C27046 {source="MONDO:otherHierarchy", source="DOID:3627"}
xref: NCIT:C27198 {source="MONDO:otherHierarchy", source="DOID:3627"}
xref: NCIT:C27299 {source="MONDO:otherHierarchy", source="DOID:3627"}
xref: SCTID:14336007 {source="DOID:3627"}
xref: SCTID:155419006 {source="DOID:3627"}
xref: SCTID:155423003 {source="DOID:3627"}
xref: SCTID:155424009 {source="DOID:3627"}
xref: SCTID:195258006 {source="DOID:3627"}
xref: SCTID:195264004 {source="DOID:3627"}
xref: SCTID:195265003 {source="DOID:3627"}
xref: SCTID:195269009 {source="DOID:3627"}
xref: SCTID:195615002 {source="DOID:3627"}
xref: SCTID:34365005 {source="DOID:3627"}
xref: SCTID:67362008 {source="EFO:0001666", source="DOID:3627"}
xref: SCTID:73067008 {source="MONDO:equivalentTo", source="DOID:3627"}
xref: UMLS:C0003486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:362"}
is_a: MONDO:0005561 {source="DOID:3627"} ! aortic disorder
relationship: disease_has_location UBERON:0000947 {source="EFO:0000784"} ! aorta
property_value: IAO:0000589 "aortic aneurysm (disease)" xsd:string

[Term]
id: MONDO:0005161
name: human papilloma virus infection
def: "An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Human papilloma Virus infection" EXACT [NCIT:C27851]
synonym: "Human papillomavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human papillomavirus disease or disorder" EXACT []
synonym: "Human Papillomavirus infection" EXACT [NCIT:C27851]
synonym: "Human papillomavirus infectious disease" EXACT []
xref: DOID:11166 {source="MONDO:equivalentTo"}
xref: EFO:0001668 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:079.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:87475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27851 {source="MONDO:equivalentTo", source="EFO:0001668"}
xref: SCTID:240532009 {source="MONDO:equivalentTo", source="EFO:0001668"}
xref: UMLS:C0343641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87475"}
is_a: MONDO:0005108 {source="EFO:0001668", source="MONDO:Redundant", source="NCIT:C27851"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10566 ! disease has primary infectious agent Human papillomavirus

[Term]
id: MONDO:0005162
name: obsolete influenza infection
is_obsolete: true
replaced_by: MONDO:0005812

[Term]
id: MONDO:0005163
name: simian immunodeficiency virus infection
def: "An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." [EFO:0001675]
subset: otar {source="MONDO:OTAR"}
synonym: "Simian immunodeficiency virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simian immunodeficiency virus disease or disorder" EXACT []
synonym: "Simian immunodeficiency virus infectious disease" EXACT []
xref: EFO:0001675 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0700053 {source="EFO:0001675", source="MONDO:Redundant"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0100332 NCBITaxon:11723 ! disease has primary infectious agent Simian immunodeficiency virus

[Term]
id: MONDO:0005164
name: fibrosarcoma
def: "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone." [NCIT:C3043]
subset: gard_rare {source="GARD:2327", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2030"}
subset: orphanet_rare {source="Orphanet:2030"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibrocytic tumor" BROAD [DOID:3355, NCIT:C7075]
synonym: "fibrocytic tumour" BROAD OMO:0003005 []
synonym: "fibrosarcoma" EXACT [MONDO:ambiguous, NCIT:C3043]
synonym: "fibrosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "fibrosarcoma (excluding infantile fibrosarcoma)" EXACT [NCIT:C3043]
synonym: "fibrosarcoma - not infantile" EXACT [NCIT:C3043]
synonym: "fibrosarcoma of soft tissue" EXACT [DOID:3355]
synonym: "fibrosarcoma, malignant" EXACT [NCIT:C3043]
synonym: "fibrous tissue neoplasm" EXACT [DOID:3355]
synonym: "malignant fibromatous neoplasm" EXACT [NCIT:C3043]
xref: DOID:3355 {source="EFO:0002087", source="MONDO:equivalentTo"}
xref: EFO:0002087 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2327 {source="MONDO:GARD"}
xref: HP:0100244 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C49.9 {source="Orphanet:2030/ntbt", source="Orphanet:2030"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8810/3 {source="NCIT:C3043"}
xref: MedDRA:10016632 {source="Orphanet:2030/e", source="Orphanet:2030"}
xref: MEDGEN:5178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005354 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0002087", source="DOID:3355", source="Orphanet:2030/e", source="MONDO:equivalentTo", source="Orphanet:2030"}
xref: MESH:D018218 {source="DOID:3355"}
xref: NANDO:2200060 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3043 {source="EFO:0002087", source="DOID:3355", source="MONDO:equivalentTo"}
xref: NCIT:C6605 {source="DOID:3355"}
xref: NCIT:C7075 {source="DOID:3355"}
xref: ONCOTREE:FIBS {source="MONDO:equivalentTo"}
xref: Orphanet:2030 {source="MONDO:equivalentTo"}
xref: SCTID:443250000 {source="DOID:3355", source="MONDO:equivalentTo"}
xref: SCTID:53654007 {source="EFO:0002087", source="DOID:3355"}
xref: UMLS:C0016057 {source="MEDGEN:5178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="EFO:0002087", source="MONDO:Redundant", source="NCIT:C3043"} ! sarcoma
is_a: MONDO:0006209 {source="NCIT:C3043"} ! fibroblastic neoplasm
is_a: MONDO:0018078 {source="Orphanet:2030"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0021054 {source="Orphanet:2030", source="https://orcid.org/0000-0001-5208-3432"} ! bone sarcoma
property_value: IAO:0000589 "fibrosarcoma (disease)" xsd:string

[Term]
id: MONDO:0005165
name: benign neoplasm
def: "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." [NCIT:C3677]
comment: Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm" EXACT [NCIT:C3677]
synonym: "benign neoplasm (disease)" EXACT []
synonym: "benign tumor" RELATED [NCIT:C3677]
synonym: "benign tumour" RELATED OMO:0003005 []
synonym: "benign unclassifiable tumor" RELATED [NCIT:C3677]
synonym: "benign unclassifiable tumour" RELATED OMO:0003005 []
synonym: "cell type benign neoplasm" RELATED [DOID:0060084]
synonym: "neoplasm (disease), benign" EXACT [MONDO:patterns/benign]
synonym: "neoplasm, benign" RELATED [NCIT:C3677]
synonym: "organ system benign neoplasm" RELATED [DOID:0060085]
xref: DOID:0060072 {source="EFO:0002422", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0060084 {source="MONDO:equivalentTo"}
xref: DOID:0060085 {source="MONDO:equivalentTo"}
xref: EFO:0002422 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D10-D36 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10WHO:D10-D36 {source="MONDO:equivalentTo"}
xref: ICD9:210-229.99 {source="EFO:0002422"}
xref: ICD9:229.8 {source="MONDO:i2s"}
xref: ICD9:229.9 {source="MONDO:i2s"}
xref: ICDO:8000/0 {source="NCIT:C3677"}
xref: MEDGEN:39483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3677 {source="EFO:0002422", source="MONDO:equivalentTo"}
xref: SCTID:20376005 {source="MONDO:equivalentTo"}
xref: SCTID:3898006 {source="EFO:0002422"}
xref: UMLS:C0086692 {source="MEDGEN:39483", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="DOID:0060072", source="DOID:0060084/inferred", source="DOID:0060085/inferred", source="EFO:0002422", source="ICD10CM:D10-D36", source="MONDO:Redundant", source="NCIT:C3677/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant
relationship: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0005166
name: osteoma
def: "A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteoma" EXACT [MONDO:ambiguous, NCIT:C3296]
synonym: "osteoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "osteoma, benign" EXACT [NCIT:C3296]
xref: EFO:0002423 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100246 {source="MONDO:otherHierarchy"}
xref: ICDO:9180/0 {source="NCIT:C3296"}
xref: MEDGEN:18220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010016 {source="MONDO:equivalentTo", source="EFO:0002423"}
xref: NCIT:C3296 {source="MONDO:equivalentTo", source="EFO:0002423"}
xref: SCTID:302858007 {source="MONDO:equivalentTo", source="EFO:0002423"}
xref: SCTID:83612000 {source="EFO:0002423"}
xref: UMLS:C0029440 {source="MEDGEN:18220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000631 {source="NCIT:C3296"} ! bone benign neoplasm
is_a: MONDO:0005165 {source="EFO:0002423", source="MONDO:Redundant", source="MONDO:indirect"} ! benign neoplasm
property_value: IAO:0000589 "osteoma (disease)" xsd:string

[Term]
id: MONDO:0005167
name: fibroma
def: "A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts." [NCIT:C3041]
subset: otar {source="MONDO:OTAR"}
synonym: "fibroma" EXACT [NCIT:C3041]
synonym: "fibroma, benign" EXACT [NCIT:C3041]
xref: DOID:0050871 {source="EFO:0002424", source="MONDO:equivalentTo"}
xref: EFO:0002424 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8810/0 {source="NCIT:C3041"}
xref: MEDGEN:42016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005350 {source="EFO:0002424", source="MONDO:equivalentTo"}
xref: NCIT:C3041 {source="EFO:0002424", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:112682009 {source="EFO:0002424"}
xref: SCTID:424568000 {source="EFO:0002424", source="MONDO:equivalentTo"}
xref: UMLS:C0016045 {source="MEDGEN:42016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006209 {source="NCIT:C3041"} ! fibroblastic neoplasm

[Term]
id: MONDO:0005168
name: neoplasm of immature B and T cells
def: "A neoplasm arising from immature B and T cells" [EFO:0002425]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0005157 {source="EFO:0002425"} ! lymphoid neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005169
name: neoplasm of mature T-cells or NK-cells
def: "A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells." [NCIT:C27909]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mature T and NK neoplasms" EXACT []
synonym: "mature T-cell and NK-cell neoplasm" EXACT [NCIT:C27909]
synonym: "mature T-cell neoplasm" EXACT [NCIT:C27909]
xref: EFO:0002426 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27909 {source="MONDO:equivalentTo", source="EFO:0002426"}
xref: ONCOTREE:MTNN {source="MONDO:equivalentTo"}
xref: UMLS:C1334640 {source="MEDGEN:233675", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005157 {source="EFO:0002426", source="NCIT:C27909/inferred"} ! lymphoid neoplasm
is_a: MONDO:0024615 {source="NCIT:C27909"} ! T-cell and NK-cell neoplasm

[Term]
id: MONDO:0005170
name: myeloid neoplasm
def: "Proliferation of myeloid cells originating from a primitive stem cell." [NCIT:C9290]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myeloid malignancy" EXACT [NCIT:C9290]
synonym: "myeloid neoplasm" EXACT [NCIT:C9290]
synonym: "myeloid tumor" EXACT [NCIT:C9290]
synonym: "myeloid tumour" EXACT OMO:0003005 []
synonym: "myeloma" RELATED EXCLUDE [DOID:0070004]
xref: DOID:0070004 {source="MONDO:equivalentTo"}
xref: EFO:0002427 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9975/1 {source="NCIT:C9290"}
xref: MEDGEN:445430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12434 {source="ONCOTREE:MYELOID"}
xref: NCIT:C9290 {source="MONDO:equivalentTo", source="EFO:0002427"}
xref: ONCOTREE:MYELOID {source="MONDO:equivalentTo"}
xref: SCTID:414792005 {source="EFO:0002427"}
xref: UMLS:C2939461 {source="MEDGEN:445430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044881 {source="NCIT:C9290"} ! hematopoietic and lymphoid cell neoplasm
relationship: disease_arises_from_structure UBERON:0012429 {source="NCIT:C9290"} ! hematopoietic tissue
relationship: excluded_subClassOf MONDO:0005157 {source="EFO:0002427", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoid neoplasm

[Term]
id: MONDO:0005171
name: obsolete chronic myeloproliferative disorder
def: "OBSOLETE. Chronic form of myeloproliferative neoplasm." [MONDO:patterns/chronic]
is_obsolete: true
replaced_by: MONDO:0020076

[Term]
id: MONDO:0005172
name: skeletal system disorder
def: "A disease involving the skeletal system." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of bone and/or joint" RELATED []
synonym: "disease of skeletal system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of skeletal system" EXACT []
synonym: "disorder of skeletal system" EXACT [MONDO:patterns/location_top]
synonym: "osteoarthropathy" RELATED []
synonym: "skeletal system disease" EXACT [MONDO:patterns/location]
synonym: "skeletal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:0002461 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M91-M94 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:538042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:88230002 {source="MONDO:equivalentTo"}
xref: UMLS:C0263661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538042"}
is_a: MONDO:0002081 {source="MONDO:Redundant"} ! musculoskeletal system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001434 ! skeletal system

[Term]
id: MONDO:0005173
name: actinic keratosis
def: "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "actinic (solar) keratosis" EXACT [DOID:8866, NCIT:C3148]
synonym: "actinic keratosis" EXACT [MONDO:ambiguous]
synonym: "actinic keratosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Senile hyperkeratosis" RELATED [DOID:8866]
synonym: "Senile keratosis" RELATED [NCIT:C3148]
synonym: "senile keratosis" RELATED [NCIT:C3148]
synonym: "SK - solar keratosis" EXACT [DOID:8866]
synonym: "solar keratosis" EXACT [DOID:8866]
xref: DOID:8866 {source="EFO:0002496", source="MONDO:equivalentTo"}
xref: EFO:0002496 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0025127 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L57.0 {source="DOID:8866", source="MONDO:equivalentTo"}
xref: ICD9:702.0 {source="DOID:8866", source="EFO:0002496"}
xref: ICD9:702.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055623 {source="DOID:8866", source="MONDO:equivalentTo"}
xref: NCIT:C3148 {source="DOID:8866", source="EFO:0002496", source="MONDO:equivalentTo"}
xref: SCTID:156395005 {source="DOID:8866"}
xref: SCTID:156398007 {source="DOID:8866"}
xref: SCTID:156400006 {source="DOID:8866"}
xref: SCTID:201096007 {source="DOID:8866"}
xref: SCTID:201097003 {source="DOID:8866"}
xref: SCTID:201098008 {source="DOID:8866"}
xref: SCTID:201101007 {source="DOID:8866", source="EFO:0002496", source="MONDO:equivalentTo"}
xref: SCTID:201106002 {source="DOID:8866"}
xref: SCTID:201107006 {source="DOID:8866"}
xref: SCTID:267858008 {source="DOID:8866"}
xref: SCTID:267860005 {source="DOID:8866"}
xref: SCTID:398838000
xref: SCTID:46795000 {source="DOID:8866", source="MONDO:relatedTo"}
xref: SCTID:856006 {source="DOID:8866", source="EFO:0002496"}
xref: UMLS:C0022602 {source="MEDGEN:9627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000611 {source="DOID:8866"} ! pre-malignant neoplasm
is_a: MONDO:0002531 {source="MONDO:Redundant", source="NCIT:C3148/inferred"} ! skin neoplasm
is_a: MONDO:0005093 {source="EFO:0002496", source="MESH:D055623/inferred", source="MONDO:Redundant", source="NCIT:C3148/inferred"} ! skin disorder
property_value: IAO:0000589 "actinic keratosis (disease)" xsd:string

[Term]
id: MONDO:0005174
name: acute hypotension
def: "Acute form of hypotension (disease)." [MONDO:patterns/acute]
subset: otar {source="MONDO:OTAR"}
synonym: "acute hypotension (disease)" EXACT []
synonym: "hypotension (disease), acute" EXACT [MONDO:patterns/acute]
xref: EFO:0002497 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1843489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0745176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843489"}
is_a: MONDO:0005468 {source="EFO:0002497", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypotensive disorder
intersection_of: MONDO:0005468 ! hypotensive disorder
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0005175
name: aggressive insulitis
def: "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." [EFO:0002498]
is_a: MONDO:0005046 {source="EFO:0002498"} ! immune system disorder
relationship: disease_has_location UBERON:0000006 {source="EFO:0000784"} ! islet of Langerhans

[Term]
id: MONDO:0005176
name: benign insulitis
def: "A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." [EFO:0002502]
comment: Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. {source="EFO:0002502"}
xref: PMID:20545565 {source="EFO:0002502"}
xref: Wikipedia:Insulitis {source="EFO:0002502"}
is_a: MONDO:0005046 {source="EFO:0002502"} ! immune system disorder
relationship: disease_has_location UBERON:0000006 {source="EFO:0000784"} ! islet of Langerhans

[Term]
id: MONDO:0005177
name: serous cystadenoma
def: "A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." [NCIT:C3783]
subset: otar {source="MONDO:OTAR"}
synonym: "serous cystadenoma" EXACT [NCIT:C3783]
synonym: "serous cystoma" EXACT [NCIT:C3783]
xref: EFO:0002504 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8441/0 {source="NCIT:C3783"}
xref: MEDGEN:64636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3783 {source="MONDO:equivalentTo", source="EFO:0002504"}
xref: SCTID:51608009 {source="EFO:0002504"}
xref: UMLS:C0206709 {source="MEDGEN:64636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002369 {source="NCIT:C3783"} ! cystadenoma
is_a: MONDO:0004972 {source="EFO:0002504", source="MONDO:Redundant", source="MONDO:indirect"} ! adenoma

[Term]
id: MONDO:0005178
name: osteoarthritis
def: "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." [NCIT:C3293]
subset: otar {source="MONDO:OTAR"}
synonym: "degenerative arthritis" EXACT [DOID:8398]
synonym: "degenerative joint disease" EXACT [DOID:8398]
synonym: "hypertrophic arthritis" EXACT [DOID:8398]
synonym: "osteoarthrosis" EXACT [DOID:8398]
synonym: "osteoarthrosis and allied disorder" EXACT [DOID:8398]
xref: DOID:8398 {source="MONDO:equivalentTo", source="EFO:0002506"}
xref: HP:0002758 {source="MONDO:otherHierarchy", source="EFO:0002506"}
xref: ICD10CM:M15-M19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M19 {source="MONDO:equivalentTo"}
xref: ICD9:715.3 {source="DOID:8398"}
xref: MEDGEN:45244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010003 {source="MONDO:equivalentTo", source="EFO:0002506"}
xref: NCIT:C3293 {source="MONDO:equivalentTo", source="EFO:0002506"}
xref: SCTID:396275006 {source="MONDO:equivalentTo", source="EFO:0002506"}
xref: UMLS:C0029408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45244"}
is_a: MONDO:0005578 {source="DOID:8398", source="EFO:0002506", source="MESH:D010003", source="MONDO:Redundant", source="NCIT:C3293"} ! arthritic joint disease
relationship: disease_has_feature HP:0001369 ! Arthritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1395" xsd:anyURI

[Term]
id: MONDO:0005179
name: ovarian adenoma benign
def: "A benign adenoma of ovary" [EFO:0002507]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0004972 {source="EFO:0002507"} ! adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000992 ! ovary
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005180
name: Parkinson disease
def: "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "paralysis agitans" EXACT [DOID:14330]
synonym: "Parkinson disease" EXACT CLINGEN_LABEL []
synonym: "Parkinson's disease" EXACT [DOID:14330, ISBN-13:978-1-259-64403-0]
xref: DOID:14330 {source="MONDO:equivalentTo", source="EFO:0002508"}
xref: ICD10CM:G20 {source="DOID:14330"}
xref: ICD9:332 {source="DOID:14330", source="EFO:0002508"}
xref: ICD9:332.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14330"}
xref: MEDGEN:10590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010300 {source="MONDO:equivalentTo", source="DOID:14330", source="EFO:0002508"}
xref: NANDO:1200010 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26845 {source="MONDO:equivalentTo", source="DOID:14330", source="EFO:0002508"}
xref: NIFSTD:birnlex_2098 {source="EFO:0002508"}
xref: OMIMPS:168600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2828 {source="DOID:14330"}
xref: Orphanet:319705 {source="MONDO:equivalentObsolete"}
xref: SCTID:154999006 {source="DOID:14330"}
xref: SCTID:155000006 {source="DOID:14330"}
xref: SCTID:155002003 {source="DOID:14330"}
xref: SCTID:192825001 {source="DOID:14330"}
xref: SCTID:192831003 {source="DOID:14330"}
xref: SCTID:49049000 {source="MONDO:equivalentTo", source="DOID:14330", source="EFO:0002508"}
xref: UMLS:C0030567 {source="MONDO:equivalentTo", source="MEDGEN:10590", source="MONDO:MEDGEN"}
is_a: MONDO:0021095 {source="MESH:D010300"} ! parkinsonian disorder
relationship: excluded_subClassOf MONDO:0000510 {source="DOID:14330", source="https://orcid.org/0000-0001-5208-3432"} ! synucleinopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:168600"} ! inherited

[Term]
id: MONDO:0005181
name: progressive external ophthalmoplegia
def: "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" [MESH:D017246]
subset: disease_grouping
subset: gard_rare {source="GARD:4503", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:520820"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic progressive external ophthalmoplegia" RELATED [DOID:12558]
synonym: "chronic progressive external ophthalmoplegia [ambiguous]" EXACT [DOID:12558]
synonym: "progressive external ophthalmoplegia" EXACT [DOID:12558, ICD9CM:378.72]
xref: DOID:12558 {source="MONDO:equivalentTo", source="EFO:0002509"}
xref: EFO:0002509 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4503 {source="MONDO:GARD"}
xref: HP:0000590 {source="MONDO:otherHierarchy", source="EFO:0002509"}
xref: ICD10CM:H49.4 {source="DOID:12558", source="MONDO:equivalentTo"}
xref: icd11.foundation:1698427219 {source="Orphanet:520820", source="MONDO:equivalentTo"}
xref: ICD9:378.72 {source="DOID:12558", source="EFO:0002509"}
xref: MEDGEN:102439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017246 {source="DOID:12558", source="MONDO:equivalentTo"}
xref: NANDO:1200174 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:520820 {source="MONDO:equivalentTo"}
xref: SCTID:194034008 {source="DOID:12558"}
xref: SCTID:194126004 {source="DOID:12558"}
xref: SCTID:46252003 {source="DOID:12558", source="MONDO:equivalentTo", source="EFO:0002509"}
xref: UMLS:C0162674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102439"}
is_a: MONDO:0009637 {source="DOID:12558", source="MESH:D017246"} ! inborn mitochondrial myopathy

[Term]
id: MONDO:0005182
name: serous cystadenofibroma
def: "A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well." [PMID:16025006]
subset: otar {source="MONDO:OTAR"}
xref: DOID:7320 {source="MONDO:relatedTo", source="EFO:0002510"}
xref: EFO:0002510 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: NCIT:C40032 {source="MONDO:relatedTo", source="EFO:0002510"}
is_a: MONDO:0005167 {source="EFO:0002510"} ! fibroma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7172" xsd:anyURI

[Term]
id: MONDO:0005183
name: ovarian cystadenoma
def: "A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells." [NCIT:C4060]
subset: otar {source="MONDO:OTAR"}
synonym: "benign cystadenoma of ovary" EXACT [NCIT:C4060]
synonym: "benign cystadenoma of the ovary" EXACT [NCIT:C4060]
synonym: "benign ovarian cystadenoma" EXACT [NCIT:C4060]
synonym: "cystadenoma of ovary" EXACT [NCIT:C4060]
synonym: "cystadenoma of the ovary" EXACT [NCIT:C4060]
synonym: "cystoma serosum simplex" EXACT [DOID:3269, NCIT:C4060]
synonym: "ovarian cystadenoma" EXACT [NCIT:C4060]
synonym: "ovary cystadenoma" EXACT [MONDO:patterns/location]
synonym: "simple cystoma of ovary" EXACT [DOID:3269, NCIT:C4060]
synonym: "simple cystoma of the ovary" EXACT [NCIT:C4060]
synonym: "simple ovarian cystoma" EXACT [NCIT:C4060]
xref: DOID:3269 {source="MONDO:equivalentTo", source="EFO:0002511"}
xref: EFO:0002511 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:620.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4060 {source="DOID:3269", source="MONDO:equivalentTo", source="EFO:0002511"}
xref: SCTID:198297004 {source="DOID:3269", source="MONDO:equivalentTo"}
xref: UMLS:C0346169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138041"}
is_a: MONDO:0000646 {source="DOID:3269", source="NCIT:C4060/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0002229 {source="MONDO:Redundant", source="NCIT:C4060/inferred"} ! ovarian epithelial tumor
is_a: MONDO:0002369 {source="MONDO:Redundant", source="NCIT:C4060"} ! cystadenoma
is_a: MONDO:0004972 {source="EFO:0002511", source="MONDO:Redundant", source="MONDO:indirect"} ! adenoma
intersection_of: MONDO:0002369 ! cystadenoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0005184
name: pancreatic ductal adenocarcinoma
def: "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." [NCIT:C9120]
subset: otar {source="MONDO:OTAR"}
synonym: "ductal adenocarcinoma of pancreas" EXACT [NCIT:C9120]
synonym: "ductal adenocarcinoma of the pancreas" EXACT [DOID:3498, NCIT:C9120]
synonym: "malignant neoplasm of duct of Wirsung" EXACT [DOID:3587]
synonym: "pancreas ductal adenocarcinoma" EXACT [NCIT:C9120]
synonym: "pancreas tubular adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic duct adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic duct cancer" EXACT [DOID:3587]
synonym: "pancreatic ductal adenocarcinoma" EXACT [NCIT:C9120]
synonym: "pancreatic ductal carcinoma" EXACT [MONDO:0002699]
synonym: "pancreatic infiltrating duct carcinoma, NOS" RELATED EXCLUDE [NCIT:C9120]
synonym: "pancreatic infiltrating duct carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C9120]
synonym: "pancreatic tubular adenocarcinoma" EXACT [NCIT:C9120]
xref: DOID:3498 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0002517"}
xref: DOID:3587 {source="MONDO:equivalentTo", source="EFO:0002517"}
xref: EFO:0002517 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="MONDO:EFO"}
xref: ICD10CM:C25.3 {source="DOID:3587"}
xref: ICD9:157.3 {source="DOID:3587"}
xref: MEDGEN:277490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D021441 {source="DOID:3587", source="MONDO:equivalentTo"}
xref: NCIT:C9120 {source="DOID:3498", source="MONDO:equivalentTo", source="EFO:0002517"}
xref: SCTID:187793004 {source="DOID:3587"}
xref: SCTID:93939009 {source="DOID:3587"}
xref: UMLS:C1335302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277490"}
is_a: MONDO:0005606 {source="EFO:0006471", source="MONDO:Redundant"} ! tubular adenocarcinoma
is_a: MONDO:0006047 {source="DOID:3498", source="MONDO:Redundant", source="NCIT:C9120"} ! pancreatic adenocarcinoma
intersection_of: MONDO:0005606 ! tubular adenocarcinoma
intersection_of: disease_has_location UBERON:0007329 ! pancreatic duct
relationship: disease_has_location UBERON:0001264 {source="EFO:0000784"} ! pancreas
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7215" xsd:anyURI

[Term]
id: MONDO:0005185
name: chronic childhood arthritis
def: "An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system." [NCIT:C27179]
comment: This class is scheduled for obsoletion
synonym: "JRA" EXACT ABBREVIATION [NCIT:C27179]
synonym: "Juvenile rheumatoid arthritis" EXACT [NCIT:C27179]
synonym: "Juvenile rheumatoid arthritis (AQ)" EXACT [NCIT:C27179]
xref: DOID:676 {source="EFO:0002609", source="MONDO:relatedTo"}
xref: DOID:6776 {source="EFO:0002609", source="MONDO:relatedTo"}
xref: MEDGEN:732010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27179 {source="EFO:0002609", source="MONDO:equivalentTo"}
xref: SCTID:410793008 {source="MONDO:equivalentTo"}
xref: SCTID:410795001 {source="EFO:0002609"}
xref: SCTID:410796000 {source="EFO:0002609"}
xref: UMLS:C1444838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:732010"}
xref: Wikipedia:Juvenile_idiopathic_arthritis {source="EFO:0002609"}
is_a: MONDO:0008383 {source="EFO:0002609", source="NCIT:C27179"} ! rheumatoid arthritis
relationship: disease_has_feature HP:0001370 ! Rheumatoid arthritis
relationship: disease_has_feature HP:0002960 ! Autoimmunity
relationship: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0005186
name: cocaine dependence
def: "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cocaine addiction" EXACT [NCIT:C34492]
xref: DOID:9975 {source="MONDO:equivalentTo", source="EFO:0002610"}
xref: EFO:0002610 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F14.2 {source="DOID:9975"}
xref: ICD9:304.2 {source="DOID:9975", source="EFO:0002610"}
xref: ICD9:304.20 {source="DOID:9975", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:154705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019970 {source="DOID:9975"}
xref: NCIT:C34492 {source="DOID:9975", source="MONDO:equivalentTo", source="EFO:0002610"}
xref: SCTID:191829009 {source="DOID:9975"}
xref: SCTID:191830004 {source="DOID:9975"}
xref: SCTID:191834008 {source="DOID:9975"}
xref: SCTID:192254002 {source="DOID:9975"}
xref: SCTID:286934009 {source="DOID:9975"}
xref: SCTID:31956009 {source="DOID:9975", source="MONDO:equivalentTo", source="EFO:0002610"}
xref: UMLS:C0600427 {source="MEDGEN:154705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005303 {source="DOID:9975", source="EFO:0002610", source="MONDO:Redundant", source="NCIT:C34492"} ! drug dependence
intersection_of: MONDO:0005303 ! drug dependence
intersection_of: realized_in_response_to_stimulus CHEBI:27958 ! cocaine

[Term]
id: MONDO:0005187
name: human herpesvirus 8 infection
def: "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "HHV8 infection" EXACT [NCIT:C39291]
synonym: "Human Herpes Virus 8 infection" EXACT [NCIT:C39291]
synonym: "Human Herpesvirus 8 infection" EXACT [NCIT:C39291]
xref: EFO:0002612 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:268211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39291 {source="MONDO:equivalentTo", source="EFO:0002612"}
xref: UMLS:C1512508 {source="MEDGEN:268211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0002612", source="MONDO:Redundant", source="NCIT:C39291"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:37296 ! disease has primary infectious agent Human gammaherpesvirus 8

[Term]
id: MONDO:0005188
name: iatrogenic Kaposi's sarcoma
def: "A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "iatrogenic Kaposi sarcoma" EXACT [NCIT:C35873]
synonym: "iatrogenic Kaposi's sarcoma" EXACT [NCIT:C35873]
xref: MEDGEN:235203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35873 {source="MONDO:equivalentTo", source="EFO:0002613"}
xref: UMLS:C1334149 {source="MONDO:equivalentTo", source="MEDGEN:235203", source="MONDO:MEDGEN"}
is_a: MONDO:0005055 {source="EFO:0002613", source="NCIT:C35873"} ! Kaposi's sarcoma
intersection_of: MONDO:0005055 ! Kaposi's sarcoma
intersection_of: has_characteristic MONDO:0100426 ! iatrogenic

[Term]
id: MONDO:0005189
name: internal carotid artery stenosis
def: "Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." [EFO:0002615]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0002615 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:433.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:233964008 {source="MONDO:equivalentTo", source="EFO:0002615"}
xref: UMLS:C0340569 {source="MEDGEN:87405", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Carotid_artery_stenosis {source="EFO:0002615"}
is_a: MONDO:0011057 {source="EFO:0002615"} ! cerebrovascular disorder

[Term]
id: MONDO:0005190
name: obsolete macroglobulinemia
def: "OBSOLETE. Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." [EFO:0002616]
subset: otar {source="MONDO:OTAR"}
synonym: "primary macroglobulinemia" EXACT [DOID:9080]
xref: DOID:9080 {source="MONDO:obsoleteEquivalent", source="EFO:0002616"}
xref: EFO:0002616 {source="MONDO:obsoleteEquivalent", source="MONDO:EFO"}
xref: ICD10CM:C88.0 {source="DOID:9080", source="MONDO:relatedTo"}
xref: ICD9:273.3 {source="DOID:9080", source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="EFO:0002616"}
xref: MESH:D008258 {source="DOID:9080", source="MONDO:relatedTo"}
xref: NCIT:C115212 {source="DOID:9080"}
xref: NCIT:C3212 {source="MONDO:relatedTo", source="EFO:0002616"}
xref: NCIT:C80307 {source="DOID:9080", source="MONDO:relatedTo"}
xref: SCTID:109981009 {source="DOID:9080"}
xref: SCTID:154750002 {source="DOID:9080"}
xref: SCTID:190014001 {source="DOID:9080"}
xref: SCTID:190817009 {source="DOID:9080", source="MONDO:obsoleteEquivalent", source="EFO:0002616"}
xref: SCTID:190818004 {source="DOID:9080"}
xref: SCTID:190821002 {source="DOID:9080"}
xref: SCTID:267503004 {source="DOID:9080"}
xref: SCTID:35562000 {source="DOID:9080"}
xref: Wikipedia:Macroglobulinemia {source="EFO:0002616"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7120" xsd:anyURI
is_obsolete: true
consider: MONDO:0100280

[Term]
id: MONDO:0005191
name: metastatic melanoma
def: "A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." [NCIT:C8925]
subset: otar {source="MONDO:OTAR"}
synonym: "metastatic malignant melanoma" EXACT []
synonym: "metastatic melanoma" EXACT [NCIT:C8925]
xref: EFO:0002617 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8925 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0002617"}
xref: SCTID:443493003 {source="MONDO:equivalentTo"}
xref: UMLS:C0278883 {source="MEDGEN:83002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="EFO:0002617", source="MONDO:Redundant", source="NCIT:C8925"} ! melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic
relationship: disease_has_feature MONDO:0024883 ! metastatic neoplasm

[Term]
id: MONDO:0005192
name: exocrine pancreatic carcinoma
def: "A carcinoma that arises from epithelial cells of the exocrine pancreas" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of pancreas" BROAD [NCIT:C3850]
synonym: "cancer of the pancreas" BROAD [NCIT:C3850]
synonym: "carcinoma of exocrine pancreas" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of pancreas" EXACT [DOID:4905, NCIT:C3850]
synonym: "carcinoma of the pancreas" EXACT [NCIT:C3850]
synonym: "exocrine cancer" BROAD [DOID:4905, NCIT:C3850]
synonym: "exocrine pancreas carcinoma" EXACT [DOID:4905, MONDO:patterns/location, NCIT:C3850]
synonym: "pancreas cancer" BROAD [NCIT:C3850]
synonym: "pancreas carcinoma" EXACT [NCIT:C3850]
synonym: "pancreatic cancer" BROAD [NCIT:C3850]
synonym: "pancreatic cancer (excluding islets), NOS" RELATED EXCLUDE [NCIT:C3850]
synonym: "pancreatic cancer (not islets)" EXACT [NCIT:C3850]
synonym: "pancreatic carcinoma" EXACT [NCIT:C3850]
synonym: "pancreatic carcinoma, familial" RELATED [DOID:4905, MESH:C535837]
xref: DOID:4905 {source="MONDO:equivalentTo", source="EFO:0002618"}
xref: EFO:0002618 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:65917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562463 {source="DOID:4905", source="EFO:0002618"}
xref: NCIT:C3850 {source="MONDO:equivalentTo", source="DOID:4905", source="EFO:0002618"}
xref: SCTID:154475002 {source="DOID:4905"}
xref: SCTID:255089009 {source="DOID:4905"}
xref: SCTID:372142002 {source="MONDO:equivalentTo", source="DOID:4905", source="EFO:0002618"}
xref: SCTID:93938001 {source="DOID:4905"}
xref: UMLS:C0235974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65917"}
is_a: MONDO:0002116 {source="MONDO:Redundant", source="NCIT:C3850"} ! malignant exocrine pancreas neoplasm
is_a: MONDO:0004993 {source="DOID:4905", source="EFO:0002618", source="MONDO:Redundant", source="NCIT:C3850/inferred"} ! carcinoma
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3850"} ! digestive system carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000017 ! exocrine pancreas
relationship: disease_has_location UBERON:0001264 {source="EFO:0000784"} ! pancreas

[Term]
id: MONDO:0005193
name: prostate intraepithelial neoplasia
def: "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade." [NCIT:C4064]
subset: otar {source="MONDO:OTAR"}
synonym: "pin" EXACT [NCIT:C4064]
synonym: "pin - prostatic intraepithelial neoplasia" EXACT [NCIT:C4064]
synonym: "prostate intraepithelial neopl." EXACT [NCIT:C4064]
synonym: "prostate intraepithelial neoplasia (pin)" EXACT [NCIT:C4064]
synonym: "prostatic intraepithelial neoplasia" EXACT [NCIT:C4064]
xref: EFO:0002621 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019048 {source="MONDO:equivalentTo", source="EFO:0002621"}
xref: NCIT:C4064 {source="MONDO:equivalentTo", source="EFO:0002621"}
xref: SCTID:254901000 {source="MONDO:equivalentTo", source="EFO:0002621"}
xref: UMLS:C0282612 {source="MONDO:equivalentTo", source="MEDGEN:76480", source="MONDO:MEDGEN"}
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C4064"} ! prostate neoplasm
intersection_of: MONDO:0024474 ! intraepithelial neoplasia
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0005194
name: Rotavirus infection
def: "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." [MESH:D012400]
subset: otar {source="MONDO:OTAR"}
synonym: "Rotavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rotavirus disease or disorder" EXACT []
synonym: "Rotavirus infectious disease" EXACT []
xref: EFO:0002622 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012400 {source="MONDO:equivalentTo"}
xref: SCTID:18624000 {source="MONDO:equivalentTo"}
xref: UMLS:C0035869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19835"}
is_a: MONDO:0005108 {source="EFO:0002622", source="MESH:D012400/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10912 ! disease has primary infectious agent Rotavirus
relationship: disease_has_location UBERON:0001007 {source="EFO:0000784"} ! digestive system

[Term]
id: MONDO:0005195
name: septic peritonitis
def: "Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." [EFO:0002623]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0002623 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: PMID:22911262 {source="EFO:0002623"}
xref: Wikipedia:Septic_peritonitis {source="EFO:0002623"}
is_a: MONDO:0005113 {source="EFO:0002623"} ! bacterial infectious disease
intersection_of: MONDO:0004522 ! peritonitis
intersection_of: disease_arises_from_feature HP:0100806 ! Sepsis
relationship: disease_has_inflammation_site UBERON:0002358 ! peritoneum
relationship: disease_has_location UBERON:0001007 {source="EFO:0000784"} ! digestive system

[Term]
id: MONDO:0005196
name: obsolete teratozoospermia
def: "OBSOLETE. Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [EFO:0002625]
comment: This is a finding.
xref: SCTID:236817003 {source="MONDO:obsoleteEquivalent", source="EFO:0002625"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1786" xsd:anyURI
is_obsolete: true
consider: HP:0012864

[Term]
id: MONDO:0005197
name: thymus neoplasm
def: "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." [NCIT:C3412]
subset: disease_grouping
subset: gard_rare {source="GARD:19767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:100100"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of the Thymus" EXACT [NCIT:C3412]
synonym: "neoplasm of Thymus" EXACT [NCIT:C3412]
synonym: "neoplasm of thymus" EXACT [MONDO:patterns/neoplasm]
synonym: "thymic neoplasm" EXACT [NCIT:C3412]
synonym: "thymic tumor" EXACT [MONDO:0015080, NCIT:C3412]
synonym: "thymic tumour" EXACT OMO:0003005 []
synonym: "THYMUS" RELATED ABBREVIATION [ONCOTREE:THYMUS]
synonym: "Thymus neoplasm" EXACT [NCIT:C3412]
synonym: "thymus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Thymus tumor" EXACT [NCIT:C3412]
synonym: "thymus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Thymus tumour" EXACT OMO:0003005 []
synonym: "thymus tumour" EXACT OMO:0003005 []
synonym: "tumor of the Thymus" EXACT [NCIT:C3412]
synonym: "tumor of Thymus" EXACT [NCIT:C3412]
synonym: "tumor of thymus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of the Thymus" EXACT OMO:0003005 []
synonym: "tumour of Thymus" EXACT OMO:0003005 []
synonym: "tumour of thymus" EXACT OMO:0003005 []
xref: EFO:0002626 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19767 {source="MONDO:GARD"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:811424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12433 {source="ONCOTREE:THYMUS"}
xref: NCIT:C3412 {source="MONDO:equivalentTo", source="EFO:0002626"}
xref: ONCOTREE:THYMUS {source="MONDO:equivalentTo"}
xref: Orphanet:100100 {source="MONDO:equivalentTo"}
xref: SCTID:127231009 {source="MONDO:equivalentTo"}
xref: UMLS:C3714644 {source="MEDGEN:811424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002370 ! thymus
relationship: disease_has_location UBERON:0002370 {source="EFO:0000784"} ! thymus

[Term]
id: MONDO:0005198
name: vulvar intraepithelial neoplasia
def: "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type." [NCIT:P378]
subset: gard_rare {source="GARD:19876", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137583"}
subset: orphanet_rare {source="Orphanet:137583"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intraepithelial neoplasia of the vulva" EXACT [NCIT:C4756]
synonym: "intraepithelial neoplasia of vulva" EXACT [NCIT:C4756]
synonym: "squamous vulvar intraepithelial neoplasia" EXACT [NCIT:C4756]
synonym: "VIN" EXACT ABBREVIATION [NCIT:C4756]
synonym: "vulva intraepithelial neoplasia" EXACT [NCIT:C4756]
synonym: "vulval intraepithelial neoplasia" EXACT [NCIT:C4756]
synonym: "vulvar intraepithelial tumor" EXACT [Orphanet:137583]
synonym: "vulvar intraepithelial tumour" EXACT OMO:0003005 []
xref: EFO:0002627 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19876 {source="MONDO:GARD"}
xref: ICD10CM:D07.1 {source="Orphanet:137583/ntbt", source="Orphanet:137583"}
xref: MEDGEN:91093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4756 {source="MONDO:equivalentTo", source="EFO:0002627"}
xref: Orphanet:137583 {source="MONDO:equivalentTo"}
xref: SCTID:399382009 {source="EFO:0002627"}
xref: UMLS:C0346210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91093"}
is_a: MONDO:0002195 {source="NCIT:C4756"} ! vulvar squamous neoplasm

[Term]
id: MONDO:0005199
name: obsolete peripartum cardiomyopathy
is_obsolete: true
replaced_by: MONDO:0018920

[Term]
id: MONDO:0005200
name: viral dilated cardiomyopathy
def: "An dilated cardiomyopathy caused by infection with Viruses." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Viruses caused dilated cardiomyopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses dilated cardiomyopathy" EXACT []
xref: EFO:0002629 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:538852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:30496006 {source="MONDO:equivalentTo", source="EFO:0002629"}
xref: UMLS:C0264797 {source="MEDGEN:538852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Viral_cardiomyopathy {source="EFO:0002629"}
is_a: MONDO:0005021 {source="EFO:0002629", source="MONDO:Entailed", source="MONDO:Redundant"} ! dilated cardiomyopathy
intersection_of: MONDO:0005021 ! dilated cardiomyopathy
intersection_of: disease_arises_from_feature MONDO:0005108 ! viral infectious disease

[Term]
id: MONDO:0005201
name: restrictive cardiomyopathy
def: "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." [NCIT:C62798]
subset: disease_grouping
subset: gard_rare {source="GARD:20531", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:217632"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy, constrictive" EXACT [DOID:397]
synonym: "familial restrictive cardiomyopathy" NARROW [DOID:397]
synonym: "primary restrictive cardiomyopathy" EXACT [DOID:397]
synonym: "restrictive cardiomyopathy" EXACT [DOID:397, NCIT:C62798]
xref: DOID:397 {source="EFO:0002630", source="MONDO:equivalentTo"}
xref: EFO:0002630 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20531 {source="MONDO:GARD"}
xref: ICD10CM:I42.5 {source="DOID:397"}
xref: icd11.foundation:316495940 {source="MONDO:equivalentTo", source="Orphanet:217632"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10038748 {source="Orphanet:217632/e", source="Orphanet:217632"}
xref: MEDGEN:40111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002313 {source="Orphanet:217632/e", source="MONDO:equivalentTo", source="DOID:397", source="Orphanet:217632"}
xref: NANDO:1200292 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200293 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100058 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200233 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C62798 {source="EFO:0002630", source="MONDO:equivalentTo", source="DOID:397"}
xref: Orphanet:217632 {source="MONDO:equivalentTo"}
xref: Orphanet:75249 {source="DOID:397"}
xref: SCTID:389996009 {source="DOID:397"}
xref: SCTID:415295002 {source="EFO:0002630", source="MONDO:equivalentTo", source="DOID:397"}
xref: SCTID:90828009 {source="DOID:397"}
xref: UMLS:C0007196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40111"}
is_a: MONDO:0000591 {source="DOID:397", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy

[Term]
id: MONDO:0005202
name: atopic IgE-mediated allergic disorder
def: "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms." [NCIT:C41366]
comment: Editor notes: this is a finding in NCIT
subset: otar {source="MONDO:OTAR"}
synonym: "Atopic allergy" RELATED [NCIT:C41366]
synonym: "atopic state" RELATED []
synonym: "atopy" RELATED []
xref: EFO:0002686 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:739536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41366 {source="EFO:0002686", source="MONDO:otherHierarchy"}
xref: SCTID:115665000 {source="EFO:0002686", source="MONDO:equivalentTo"}
xref: UMLS:C1706410 {source="MEDGEN:739536", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005271 {source="EFO:0002686"} ! allergic disease

[Term]
id: MONDO:0005203
name: ischemia reperfusion injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury." [MESH:D015427]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0002687 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D015427 {source="MONDO:equivalentTo"}
xref: PMID:10685060 {source="EFO:0002687"}
is_a: MONDO:0021178 {source="https://github.com/monarch-initiative/mondo/issues/1040"} ! injury
relationship: excluded_subClassOf MONDO:0004995 {source="EFO:0002687", source="EFO:0002687/inferred", source="MESH:D015427/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! cardiovascular disorder

[Term]
id: MONDO:0005204
name: primary antiphospholipid syndrome
def: "An antiphospholipid syndrome that occurs as an isolated disorder." [https://rarediseases.org/rare-diseases/antiphospholipid-syndrome/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD9:795.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:592740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016736 {source="EFO:0002689"}
xref: NANDO:1200267 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61283 {source="EFO:0002689"}
xref: SCTID:239892009 {source="MONDO:equivalentTo", source="EFO:0002689"}
xref: UMLS:C0409980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:592740"}
is_a: MONDO:8000010 {source="https://orcid.org/0000-0002-6601-2165"} ! antiphospholipid syndrome

[Term]
id: MONDO:0005205
name: obsolete systemic lupus erythematosus
is_obsolete: true
replaced_by: MONDO:0007915

[Term]
id: MONDO:0005206
name: renal carcinoma
def: "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms." [NCIT:C9384]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of kidney" EXACT [DOID:4451, MONDO:patterns/carcinoma]
synonym: "kidney (including renal cell) cancer" BROAD [NCIT:C9384]
synonym: "kidney (renal) cancer" BROAD [NCIT:C9384]
synonym: "kidney cancer" BROAD [NCIT:C9384]
synonym: "kidney cancer, NOS" BROAD EXCLUDE [NCIT:C9384]
synonym: "kidney carcinoma" EXACT [DOID:4451, MONDO:patterns/location, NCIT:C9384]
synonym: "renal cancer" BROAD [NCIT:C9384]
synonym: "renal carcinoma" EXACT [NCIT:C9384]
xref: DOID:4451 {source="EFO:0002890", source="MONDO:equivalentTo"}
xref: EFO:0002890 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9384 {source="EFO:0002890", source="MONDO:equivalentTo", source="DOID:4451"}
xref: SCTID:188251003 {source="EFO:0002890"}
xref: SCTID:254915003 {source="DOID:4451"}
xref: UMLS:C1378703 {source="MEDGEN:235133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002367 {source="DOID:4451", source="MONDO:Redundant", source="NCIT:C9384"} ! kidney cancer
is_a: MONDO:0004993 {source="DOID:4451", source="EFO:0002890", source="MONDO:Redundant", source="NCIT:C9384"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002113 ! kidney
relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney

[Term]
id: MONDO:0005207
name: choriocarcinoma
def: "An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." [NCIT:C2948]
comment: Editor note: TODO check classification w.r.t carcinoma
subset: gard_rare {source="GARD:6059", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chorioblastoma" EXACT [NCIT:C2948]
synonym: "choriocarcinoma" EXACT [MONDO:ambiguous, NCIT:C2948]
synonym: "choriocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "choriocarcinoma, malignant" EXACT [NCIT:C2948]
synonym: "chorioepithelioma" EXACT [DOID:3594, NCIT:C2948]
synonym: "chorion carcinoma" EXACT [MONDO:patterns/location]
synonym: "chorionic carcinoma" EXACT [NCIT:C2948]
xref: DOID:3594 {source="EFO:0002893", source="MONDO:equivalentTo"}
xref: EFO:0002893 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6059 {source="MONDO:GARD"}
xref: HP:0100768 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C58 {source="DOID:3594"}
xref: ICDO:9100/3 {source="NCIT:C2948"}
xref: MEDGEN:40278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002822 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo"}
xref: NANDO:2200070 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2948 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo"}
xref: ONCOTREE:BCCA {source="MONDO:equivalentTo"}
xref: SCTID:188188009 {source="DOID:3594", source="EFO:0002893", source="MONDO:equivalentTo"}
xref: SCTID:189444004 {source="DOID:3594"}
xref: SCTID:44769000 {source="DOID:3594", source="EFO:0002893"}
xref: UMLS:C0008497 {source="MEDGEN:40278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002872 {source="MESH:D002822", source="NCIT:C2948"} ! trophoblastic neoplasm
is_a: MONDO:0005040 {source="https://orcid.org/0000-0002-6601-2165"} ! germ cell tumor
relationship: excluded_subClassOf MONDO:0002178 {source="DOID:3594", source="https://orcid.org/0000-0001-5208-3432"} ! placenta cancer
relationship: excluded_subClassOf MONDO:0004970 {source="MESH:D002822", source="https://orcid.org/0000-0001-5208-3432"} ! adenocarcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare
property_value: IAO:0000589 "choriocarcinoma (disease)" xsd:string

[Term]
id: MONDO:0005208
name: amelanotic skin melanoma
def: "A amelanotic melanoma that involves the zone of skin." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "amelanotic cutaneous (skin) melanoma" EXACT [NCIT:C4633]
synonym: "amelanotic malignant melanoma (of skin)" EXACT [NCIT:C4633]
synonym: "amelanotic malignant melanoma of skin" EXACT [NCIT:C4633]
synonym: "amelanotic malignant melanoma of the skin" EXACT [NCIT:C4633]
synonym: "amelanotic malignant skin melanoma" EXACT [NCIT:C4633]
synonym: "amelanotic melanoma of skin" EXACT [NCIT:C4633]
synonym: "amelanotic melanoma of the skin" EXACT [NCIT:C4633]
synonym: "amelanotic melanoma of zone of skin" EXACT [MONDO:design_pattern]
synonym: "amelanotic skin melanoma" EXACT [NCIT:C4633]
synonym: "skin amelanotic malignant melanoma" EXACT [DOID:10054]
synonym: "skin amelanotic melanoma" EXACT [MONDO:0000932]
synonym: "zone of skin amelanotic melanoma" EXACT [MONDO:patterns/location]
xref: DOID:10054 {source="MONDO:equivalentTo"}
xref: EFO:0002894 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4633 {source="EFO:0002894", source="MONDO:equivalentTo", source="DOID:10054"}
xref: SCTID:276751004 {source="EFO:0002894", source="DOID:10054"}
xref: UMLS:C0349515 {source="MEDGEN:91149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Amelanotic_melanoma {source="EFO:0002894"}
is_a: MONDO:0002971 {source="DOID:10054", source="MONDO:Redundant", source="NCIT:C4633"} ! amelanotic melanoma
is_a: MONDO:0005012 {source="DOID:10054", source="MONDO:Redundant", source="NCIT:C4633"} ! cutaneous melanoma
is_a: MONDO:0005105 {source="DOID:10054/inferred", source="EFO:0002894", source="MONDO:Redundant", source="NCIT:C4633/inferred"} ! melanoma
intersection_of: MONDO:0002971 ! amelanotic melanoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0005209
name: obsolete cutaneous T-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0000607

[Term]
id: MONDO:0005210
name: uterine corpus sarcoma
alt_id: MONDO:0021422
def: "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma." [NCIT:C6339]
subset: disease_grouping
subset: gard_rare {source="GARD:20476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:213620"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "body of uterus sarcoma" EXACT [MONDO:patterns/location]
synonym: "corpus uteri sarcoma" EXACT [NCIT:C6339]
synonym: "sarcoma of body of uterus" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of corpus uteri" EXACT [DOID:5165, NCIT:C6339]
synonym: "sarcoma of the body of uterus" EXACT [NCIT:C6339]
synonym: "sarcoma of the corpus uteri" EXACT [MONDO:0016261]
synonym: "sarcoma of the uterine body" EXACT [NCIT:C6339]
synonym: "sarcoma of the uterine corpus" EXACT [NCIT:C6339]
synonym: "sarcoma of the uterus" RELATED [GARD:0009383]
synonym: "sarcoma of uterine body" EXACT [NCIT:C6339]
synonym: "sarcoma of uterine corpus" EXACT [NCIT:C6339]
synonym: "sarcoma of uterus" EXACT [NCIT:C6339]
synonym: "uterine body sarcoma" EXACT [NCIT:C6339]
synonym: "uterine sarcoma" RELATED [GARD:0009383]
synonym: "uterine sarcoma/mesenchymal" RELATED [ONCOTREE:USARC]
synonym: "uterus sarcoma" EXACT [NCIT:C6339]
xref: DOID:5165 {source="MONDO:equivalentTo", source="EFO:0002914"}
xref: EFO:0002914 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20476 {source="MONDO:GARD"}
xref: ICD10CM:C54.2 {source="Orphanet:213620/ntbt", source="Orphanet:213620"}
xref: MedDRA:10039497 {source="Orphanet:213620", source="Orphanet:213620/e"}
xref: MEDGEN:137837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6339 {source="MONDO:equivalentTo", source="EFO:0002914", source="DOID:5165"}
xref: ONCOTREE:USARC {source="MONDO:equivalentTo"}
xref: Orphanet:213620 {source="MONDO:equivalentTo"}
xref: SCTID:254877001 {source="MONDO:equivalentTo", source="DOID:5165"}
xref: UMLS:C0338113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137837"}
is_a: MONDO:0004992 {source="Orphanet:213620"} ! cancer
is_a: MONDO:0005089 {source="DOID:5165", source="EFO:0002914", source="MONDO:Redundant", source="NCIT:C6339/inferred"} ! sarcoma
is_a: MONDO:0006003 {source="DOID:5165", source="MONDO:Entailed", source="MONDO:indirect"} ! uterine corpus cancer
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: disease_has_location UBERON:0000995 {source="EFO:0000784"} ! uterus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma" xsd:anyURI {source="GARD:0009383"}

[Term]
id: MONDO:0005211
name: ovarian serous adenocarcinoma
def: "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." [NCIT:C7550]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant ovarian serous tumor" RELATED EXCLUDE [DOID:5744]
synonym: "malignant ovarian serous tumour" RELATED OMO:0003005 []
synonym: "ovarian serous adenocarcinoma" EXACT [NCIT:C7550]
synonym: "ovarian serous carcinoma" EXACT [MONDO:0000547, NCIT:C7550]
synonym: "ovary serous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "serous adenocarcinoma of ovary" EXACT [NCIT:C7550]
synonym: "serous adenocarcinoma of the ovary" EXACT [NCIT:C7550]
synonym: "serous carcinoma of ovary" EXACT [DOID:5744, NCIT:C7550]
synonym: "serous carcinoma of the ovary" EXACT [NCIT:C7550]
synonym: "serous ovarian cancer" RELATED [ONCOTREE:SOC]
xref: DOID:0050933 {source="MONDO:equivalentTo"}
xref: DOID:5744 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:0002917 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40025 {source="DOID:5744"}
xref: NCIT:C7550 {source="EFO:0002917", source="DOID:5744", source="MONDO:equivalentTo"}
xref: ONCOTREE:SOC {source="MONDO:equivalentTo"}
xref: UMLS:C1335177 {source="MONDO:equivalentTo", source="MEDGEN:233278", source="MONDO:MEDGEN"}
is_a: MONDO:0005278 {source="DOID:5744", source="EFO:0002917", source="MONDO:Redundant", source="NCIT:C7550"} ! serous adenocarcinoma
is_a: MONDO:0024885 {source="NCIT:C7550"} ! malignant ovarian serous tumor
intersection_of: MONDO:0005278 ! serous adenocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0005212
name: rhabdomyosarcoma
def: "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites." [NCIT:C3359]
subset: gard_rare {source="GARD:11951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:780"}
subset: orphanet_rare {source="Orphanet:780"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "rhabdomyosarcoma" EXACT CLINGEN_LABEL [MONDO:ambiguous, NCIT:C3359]
synonym: "rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0019185]
synonym: "rhabdomyosarcoma, malignant" EXACT [NCIT:C3359]
synonym: "rhabdomyosarcoma, NOS" RELATED EXCLUDE [NCIT:C3359]
xref: DOID:3247 {source="EFO:0002918", source="MONDO:equivalentTo"}
xref: EFO:0002918 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:11951 {source="MONDO:GARD"}
xref: HP:0002859 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C49.9 {source="Orphanet:780", source="Orphanet:780/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8900/3 {source="NCIT:C3359"}
xref: MedDRA:10039022 {source="Orphanet:780/e", source="Orphanet:780"}
xref: MEDGEN:20561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012208 {source="EFO:0002918", source="Orphanet:780/e", source="DOID:3247", source="MONDO:equivalentTo", source="Orphanet:780"}
xref: NANDO:2200056 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3359 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo"}
xref: ONCOTREE:RMS {source="MONDO:equivalentTo"}
xref: Orphanet:780 {source="MONDO:equivalentTo"}
xref: SCTID:134166003 {source="DOID:3247"}
xref: SCTID:302847003 {source="EFO:0002918", source="DOID:3247", source="MONDO:equivalentTo"}
xref: SCTID:30924005 {source="EFO:0002918", source="DOID:3247"}
xref: UMLS:C0035412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20561"}
is_a: MONDO:0018078 {source="Orphanet:780"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0002847 {source="https://orcid.org/0000-0001-5208-3432"} ! skeletal muscle cancer
relationship: excluded_subClassOf MONDO:0016123 {source="Orphanet:780", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular tumor
property_value: IAO:0000589 "rhabdomyosarcoma (disease)" xsd:string

[Term]
id: MONDO:0005213
name: uterine carcinoma
def: "A carcinoma involving a uterus." [MONDO:patterns/carcinoma]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of uterus" EXACT [MONDO:patterns/carcinoma]
synonym: "uterus carcinoma" EXACT [MONDO:patterns/location]
xref: EFO:0002919 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:755620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:446022000 {source="MONDO:equivalentTo"}
xref: UMLS:C2960452 {source="MEDGEN:755620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="EFO:0002919", source="MONDO:Redundant"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000995 ! uterus
relationship: disease_has_location UBERON:0000995 {source="EFO:0000784"} ! uterus

[Term]
id: MONDO:0005214
name: vulva sarcoma
def: "A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma." [NCIT:C40317]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mammalian vulva sarcoma" EXACT [MONDO:patterns/location]
synonym: "sarcoma of mammalian vulva" EXACT [MONDO:patterns/sarcoma]
synonym: "sarcoma of vulva" EXACT [DOID:2096]
synonym: "vulvar sarcoma" EXACT [DOID:2096, NCIT:C40317]
xref: DOID:2096 {source="MONDO:equivalentTo", source="EFO:0002920"}
xref: MEDGEN:65972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40317 {source="MONDO:equivalentTo", source="EFO:0002920", source="DOID:2096"}
xref: SCTID:254897006 {source="MONDO:equivalentTo", source="DOID:2096"}
xref: UMLS:C0238525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65972"}
is_a: MONDO:0001528 {source="DOID:2096", source="MONDO:Redundant", source="NCIT:C40317"} ! vulva cancer
is_a: MONDO:0005089 {source="EFO:0002920", source="MONDO:Entailed", source="NCIT:C40317/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C40317"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0005215
name: vulvar carcinoma
def: "A carcinoma that arises from epithelial cells of the mammalian vulva" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:9349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494418"}
subset: orphanet_rare {source="Orphanet:494418"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of the vulva" BROAD [NCIT:C4866]
synonym: "cancer of vulva" BROAD [NCIT:C4866]
synonym: "carcinoma of mammalian vulva" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the vulva" EXACT [NCIT:C4866]
synonym: "carcinoma of vulva" EXACT [DOID:1294, NCIT:C4866]
synonym: "mammalian vulva carcinoma" EXACT [MONDO:patterns/location]
synonym: "vulva cancer" BROAD [NCIT:C4866]
synonym: "vulva carcinoma" EXACT [NCIT:C4866]
synonym: "vulvar cancer" BROAD [NCIT:C4866]
synonym: "vulvar cancer, NOS" BROAD EXCLUDE [NCIT:C4866]
synonym: "vulvar carcinoma" EXACT [DOID:1294, NCIT:C4866]
xref: DOID:1294 {source="MONDO:equivalentTo", source="EFO:0002921"}
xref: EFO:0002921 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9349 {source="MONDO:GARD"}
xref: MEDGEN:146159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014846 {source="EFO:0002921"}
xref: NCIT:C4866 {source="MONDO:equivalentTo", source="EFO:0002921", source="DOID:1294"}
xref: Orphanet:494418 {source="MONDO:equivalentTo"}
xref: SCTID:447882007 {source="MONDO:equivalentTo"}
xref: UMLS:C0677055 {source="MEDGEN:146159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001528 {source="DOID:1294", source="MONDO:Redundant", source="NCIT:C4866"} ! vulva cancer
is_a: MONDO:0004993 {source="DOID:1294", source="EFO:0002921", source="MONDO:Redundant", source="NCIT:C4866"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0005216
name: hypopharyngeal carcinoma
def: "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx." [NCIT:C9465]
comment: Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx {source="EFO:0002938"}
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of hypopharynx" BROAD [NCIT:C9465]
synonym: "cancer of the hypopharynx" BROAD [NCIT:C9465]
synonym: "carcinoma of hypopharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9465]
synonym: "carcinoma of the hypopharynx" EXACT [NCIT:C9465]
synonym: "hypopharyngeal cancer" BROAD [NCIT:C9465]
synonym: "hypopharyngeal carcinoma" EXACT [NCIT:C9465]
synonym: "hypopharyngeal throat cancer" BROAD [NCIT:C9465]
synonym: "hypopharynx carcinoma" EXACT [MONDO:patterns/location]
xref: EFO:0002938 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:237150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9465 {source="MONDO:equivalentTo", source="EFO:0002938"}
xref: UMLS:C1368404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237150"}
is_a: MONDO:0005806 {source="MONDO:Redundant", source="NCIT:C9465"} ! hypopharynx cancer
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C9465"} ! carcinoma of pharynx
is_a: MONDO:0021358 {source="MONDO:0005216/inferred", source="MONDO:Entailed", source="NCIT:C9465/inferred"} ! neoplasm of hypopharynx
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001051 ! hypopharynx
relationship: disease_has_location UBERON:0001051 {source="EFO:0000784"} ! hypopharynx

[Term]
id: MONDO:0005217
name: familial cardiomyopathy
def: "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary cardiomyopathy" EXACT [MONDO:patterns/hereditary]
xref: EFO:0002945 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:538845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:35728003 {source="MONDO:equivalentTo", source="EFO:0002945"}
xref: UMLS:C0264789 {source="MEDGEN:538845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004994 {source="EFO:0002945", source="MONDO:Redundant"} ! cardiomyopathy
intersection_of: MONDO:0004994 ! cardiomyopathy
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0005218
name: obsolete muscular disorder
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5863" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003939

[Term]
id: MONDO:0005219
name: breast fibrocystic disease
def: "Fibrosis associated with cyst formation in the breast parenchyma." [NCIT:C3039]
comment: Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic
subset: otar {source="MONDO:OTAR"}
synonym: "benign breast disease" EXACT [NCIT:C3039]
synonym: "breast fibrocystic change" EXACT [DOID:10354, NCIT:C3039]
synonym: "cystic disease of breast" EXACT [NCIT:C3039]
synonym: "cystic disease of the breast" EXACT [NCIT:C3039]
synonym: "diffuse cystic mastopathy" EXACT [DOID:10354, ICD9CM:610.1]
synonym: "fibrocystic breast" EXACT [NCIT:C3039]
synonym: "fibrocystic breast changes" EXACT [NCIT:C3039]
synonym: "fibrocystic breast disease" EXACT [NCIT:C3039]
synonym: "fibrocystic change of breast" EXACT [NCIT:C3039]
synonym: "fibrocystic change of the breast" EXACT [NCIT:C3039]
synonym: "fibrocystic disease" EXACT [NCIT:C3039]
synonym: "fibrocystic disease of breast" EXACT [DOID:10354, MTH:119, MTH:302]
synonym: "fibrocystic disease of the breast" EXACT [NCIT:C3039]
synonym: "fibrocystic mastopathy" EXACT [NCIT:C3039]
synonym: "mammary dysplasia" EXACT [NCIT:C3039]
xref: DOID:10354 {source="EFO:0003014", source="MONDO:equivalentTo"}
xref: EFO:0003014 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N60 {source="DOID:10354"}
xref: ICD10CM:N60.1 {source="DOID:10354"}
xref: ICD9:610.1 {source="EFO:0003014", source="DOID:10354"}
xref: MEDGEN:42015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005348 {source="MONDO:equivalentTo", source="DOID:10354"}
xref: NCIT:C3039 {source="EFO:0003014", source="MONDO:equivalentTo", source="DOID:10354"}
xref: SCTID:198091009 {source="DOID:10354"}
xref: SCTID:237436008 {source="DOID:10354"}
xref: SCTID:27431007 {source="EFO:0003014", source="DOID:10354"}
xref: UMLS:C0016034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42015"}
is_a: MONDO:0000001 {source="DOID:10354/inferred", source="EFO:0003014/inferred", source="NCIT:C3039/inferred"} ! disease
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease
relationship: disease_has_location UBERON:0000310 {source="EFO:0000784"} ! breast
relationship: excluded_subClassOf MONDO:0000620 {source="DOID:10354", source="https://orcid.org/0000-0001-5208-3432"} ! breast benign neoplasm

[Term]
id: MONDO:0005220
name: collecting duct carcinoma
def: "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:9573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247203"}
subset: orphanet_rare {source="Orphanet:247203"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDC" EXACT ABBREVIATION [NCIT:C6194, Orphanet:247203]
synonym: "Bellini carcinoma" EXACT [Orphanet:247203]
synonym: "Bellini duct carcinoma" EXACT [NCIT:C6194, Orphanet:247203]
synonym: "Bellini’s duct carcinoma" RELATED [GARD:0009573]
synonym: "carcinoma of collecting duct of renal tubule" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of collecting ducts of Bellini" EXACT [NCIT:C6194]
synonym: "carcinoma of kidney collecting duct" EXACT [NCIT:C6194]
synonym: "carcinoma of renal collecting duct" EXACT [DOID:4464, NCIT:C6194]
synonym: "carcinoma of the collecting ducts of Bellini" EXACT [NCIT:C6194]
synonym: "carcinoma of the kidney collecting duct" EXACT [NCIT:C6194]
synonym: "carcinoma of the renal collecting duct" EXACT [NCIT:C6194]
synonym: "cDC" EXACT [Orphanet:247203]
synonym: "collecting duct carcinoma" EXACT [NCIT:C6194]
synonym: "collecting duct carcinoma of the kidney" RELATED [GARD:0009573]
synonym: "collecting duct of renal tubule carcinoma" EXACT [MONDO:patterns/location]
synonym: "collecting duct renal cancer" EXACT [NCIT:C6194]
synonym: "collecting duct renal cell carcinoma" EXACT [NCIT:C6194]
synonym: "kidney collecting duct carcinoma" EXACT [NCIT:C6194]
synonym: "renal carcinoma, collecting duct type" EXACT [DOID:4464]
synonym: "renal collecting duct carcinoma" EXACT [NCIT:C6194]
synonym: "renal medullary carcinoma" RELATED [DOID:4464, NCIT:C7572]
xref: DOID:4464 {source="EFO:0003016", source="MONDO:equivalentTo"}
xref: EFO:0003016 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9573 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:247203/ntbt", source="Orphanet:247203"}
xref: ICDO:8319/3 {source="NCIT:C6194"}
xref: MEDGEN:266092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002292 {source="DOID:4464", source="Orphanet:247203", source="Orphanet:247203/e"}
xref: NCIT:C6194 {source="DOID:4464", source="EFO:0003016", source="MONDO:equivalentTo"}
xref: ONCOTREE:CDRCC {source="MONDO:equivalentTo"}
xref: Orphanet:247203 {source="MONDO:equivalentTo"}
xref: SCTID:128669006 {source="DOID:4464", source="EFO:0003016"}
xref: UMLS:C1266044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266092"}
is_a: MONDO:0005086 {source="DOID:4464", source="EFO:0003016", source="ONCOTREE:CDRCC/inferred", source="Orphanet:247203"} ! renal cell carcinoma
is_a: MONDO:0005206 {source="DOID:4464/inferred", source="EFO:0003016/inferred", source="MONDO:0005220/inferred", source="MONDO:Redundant", source="NCIT:C6194"} ! renal carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001232 ! collecting duct of renal tubule

[Term]
id: MONDO:0005221
name: renal pelvis urothelial carcinoma
def: "A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas." [NCIT:C7355]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "kidney renal pelvis urothelial cancer" EXACT [NCIT:C7355]
synonym: "renal pelvis transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7355]
synonym: "renal pelvis urothelial cancer" EXACT [NCIT:C7355]
synonym: "renal pelvis urothelial carcinoma" EXACT [NCIT:C7355]
synonym: "transitional cell carcinoma of renal pelvis" EXACT [NCIT:C7355]
synonym: "transitional cell carcinoma of the renal pelvis" EXACT [NCIT:C7355]
synonym: "urothelial cell carcinoma of renal pelvis" EXACT [DOID:5974, NCIT:C7355]
synonym: "urothelial cell carcinoma of the renal pelvis" EXACT [NCIT:C7355]
xref: DOID:5974 {source="MONDO:equivalentTo", source="EFO:0003017"}
xref: EFO:0003017 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1648131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7355 {source="DOID:5974", source="MONDO:equivalentTo", source="EFO:0003017"}
xref: SCTID:408642003 {source="MONDO:equivalentTo", source="EFO:0003017"}
xref: UMLS:C4087468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648131"}
is_a: MONDO:0005519 {source="DOID:5974", source="MONDO:Redundant", source="NCIT:C7355"} ! renal pelvis carcinoma
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0005222
name: obsolete acute megakaryoblastic leukemia
is_obsolete: true
replaced_by: MONDO:0004655

[Term]
id: MONDO:0005223
name: acute myeloid leukemia with minimal differentiation
alt_id: MONDO:0020318
def: "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" [NCIT:C8460]
subset: gard_rare {source="GARD:19588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98832"}
subset: orphanet_rare {source="Orphanet:98832"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute myeloblastic leukaemia with minimal differentiation" EXACT OMO:0003005 []
synonym: "acute myeloblastic leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "acute myeloblastic leukemia, minimally differentiated" EXACT [NCIT:C8460]
synonym: "acute myelocytic leukaemia with minimal differentiation" EXACT OMO:0003005 []
synonym: "acute myelocytic leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "acute myelogenous leukaemia with minimal differentiation" EXACT OMO:0003005 []
synonym: "acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "acute myeloid leukaemia with minimal differentiation (MO)" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "acute myeloid leukemia with minimal differentiation (MO)" EXACT [NCIT:C8460]
synonym: "acute myeloid leukemia, minimally differentiated" EXACT [NCIT:C8460]
synonym: "AML M0" EXACT [Orphanet:98832]
synonym: "AML with minimal differentiation" EXACT [NCIT:C8460]
synonym: "AMLMD" RELATED ABBREVIATION [ONCOTREE:AMLMD]
synonym: "M0 acute granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "M0 acute granulocytic leukaemia with minimal differentiation" EXACT OMO:0003005 []
synonym: "M0 acute granulocytic leukemia" EXACT [NCIT:C8460]
synonym: "M0 acute granulocytic leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "M0 acute myeloblastic leukaemia" EXACT OMO:0003005 []
synonym: "M0 acute myeloblastic leukemia" EXACT [NCIT:C8460]
synonym: "M0 acute myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "M0 acute myelocytic leukemia" EXACT [NCIT:C8460]
synonym: "M0 acute myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "M0 acute myelogenous leukaemia with minimal differentiation" EXACT OMO:0003005 []
synonym: "M0 acute myelogenous leukemia" EXACT [NCIT:C8460]
synonym: "M0 acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "M0 myeloid leukaemia" EXACT OMO:0003005 []
synonym: "M0 myeloid leukaemia with minimal differentiation" EXACT OMO:0003005 []
synonym: "M0 myeloid leukemia" EXACT [NCIT:C8460]
synonym: "M0 myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460]
synonym: "minimally differentiated acute myeloblastic leukaemia" EXACT OMO:0003005 []
synonym: "minimally differentiated acute myeloblastic leukemia" EXACT [Orphanet:98832]
xref: DOID:0081085 {source="MONDO:equivalentTo"}
xref: EFO:0003026 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19588 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:98832/ntbt", source="Orphanet:98832"}
xref: icd11.foundation:1468530237 {source="Orphanet:98832", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9872/3 {source="NCIT:C8460"}
xref: MEDGEN:101100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8460 {source="EFO:0003026", source="MONDO:equivalentTo"}
xref: ONCOTREE:AMLMD {source="MONDO:equivalentTo"}
xref: Orphanet:98832 {source="MONDO:equivalentTo"}
xref: UMLS:C0522631 {source="MEDGEN:101100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015667 {source="Orphanet:98832"} ! acute myeloid leukemia by FAB classification
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003026", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0005224
name: acute myeloblastic leukemia without maturation
def: "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="GARD:526", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98833"}
subset: orphanet_rare {source="Orphanet:98833"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute granulocytic leukaemia without maturation" EXACT OMO:0003005 []
synonym: "acute granulocytic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "acute M1 myeloid leukaemia" EXACT OMO:0003005 []
synonym: "acute M1 myeloid leukemia" EXACT [NCIT:C3249]
synonym: "acute myeloblastic leukaemia M1" EXACT OMO:0003005 []
synonym: "acute myeloblastic leukaemia type 1" RELATED OMO:0003005 []
synonym: "acute myeloblastic leukemia M1" EXACT [Orphanet:98833]
synonym: "acute myeloblastic leukemia type 1" RELATED [GARD:0000526]
synonym: "acute myelocytic leukaemia without maturation" EXACT OMO:0003005 []
synonym: "acute myelocytic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "acute myelogenous leukaemia without maturation" EXACT OMO:0003005 []
synonym: "acute myelogenous leukemia without maturation" EXACT [NCIT:C3249]
synonym: "acute myeloid leukaemia without maturation" EXACT OMO:0003005 []
synonym: "acute myeloid leukaemia without maturation (FAB M1)" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia without maturation" EXACT [NCIT:C3249]
synonym: "acute myeloid leukemia without maturation (FAB M1)" EXACT [NCIT:C3249]
synonym: "AML M1" EXACT [Orphanet:98833]
synonym: "AML without maturation" EXACT [NCIT:C3249]
synonym: "AWM" RELATED ABBREVIATION [ONCOTREE:AWM]
synonym: "FAB M1" EXACT [NCIT:C3249]
synonym: "M1 acute granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "M1 acute granulocytic leukaemia without maturation" EXACT OMO:0003005 []
synonym: "M1 acute granulocytic leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute granulocytic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "M1 acute myeloblastic leukaemia" EXACT OMO:0003005 []
synonym: "M1 acute myeloblastic leukaemia without maturation" EXACT OMO:0003005 []
synonym: "M1 acute myeloblastic leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute myeloblastic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "M1 acute myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "M1 acute myelocytic leukaemia without maturation" EXACT OMO:0003005 []
synonym: "M1 acute myelocytic leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute myelocytic leukemia without maturation" EXACT [NCIT:C3249]
synonym: "M1 acute myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "M1 acute myelogenous leukaemia without maturation" EXACT OMO:0003005 []
synonym: "M1 acute myelogenous leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute myelogenous leukemia without maturation" EXACT [NCIT:C3249]
synonym: "M1 acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "M1 acute myeloid leukaemia without maturation" EXACT OMO:0003005 []
synonym: "M1 acute myeloid leukemia" EXACT [NCIT:C3249]
synonym: "M1 acute myeloid leukemia without maturation" EXACT [NCIT:C3249]
xref: DOID:0081086 {source="MONDO:equivalentTo"}
xref: EFO:0003027 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:526 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:98833/ntbt", source="Orphanet:98833"}
xref: ICDO:9873/3 {source="NCIT:C3249"}
xref: MEDGEN:10232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200005 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3249 {source="EFO:0003027", source="MONDO:equivalentTo"}
xref: ONCOTREE:AWM {source="MONDO:equivalentTo"}
xref: Orphanet:98833 {source="MONDO:equivalentTo"}
xref: SCTID:103690005 {source="EFO:0003027"}
xref: SCTID:359640008 {source="MONDO:equivalentTo"}
xref: UMLS:C0026998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10232"}
is_a: MONDO:0015667 {source="NCIT:C3249"} ! acute myeloid leukemia by FAB classification
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003027", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation" xsd:anyURI {source="GARD:0000526"}

[Term]
id: MONDO:0005225
name: obsolete acute myeloblastic leukemia with maturation
is_obsolete: true
replaced_by: MONDO:0020320

[Term]
id: MONDO:0005226
name: obsolete acute basophilic leukemia
is_obsolete: true
replaced_by: MONDO:0019458

[Term]
id: MONDO:0005227
name: abscess
def: "An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "abscess (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0003030 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:682.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:682.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000038 {source="MONDO:equivalentTo", source="EFO:0003030"}
xref: NCIT:C26686 {source="MONDO:equivalentTo", source="EFO:0003030"}
xref: SCTID:128477000 {source="MONDO:equivalentTo", source="EFO:0003030"}
xref: UMLS:C0000833 {source="MONDO:equivalentTo", source="MEDGEN:1684", source="MONDO:MEDGEN"}
xref: Wikipedia:Abscess {source="EFO:0003030"}
is_a: MONDO:0005550 {source="EFO:0003030/inferred", source="MONDO:Redundant", source="NCIT:C26686"} ! infectious disease
relationship: excluded_subClassOf MONDO:0005113 {source="EFO:0003030", source="https://orcid.org/0000-0001-5208-3432"} ! bacterial infectious disease
property_value: IAO:0000589 "abscess (disease)" xsd:string

[Term]
id: MONDO:0005228
name: obsolete anaplastic large cell lymphoma
is_obsolete: true
replaced_by: MONDO:0020325

[Term]
id: MONDO:0005229
name: bacterial infectious disease with sepsis
def: "An infectious disease caused by bacteria causing sepsis." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "bacteremia" BROAD [MESH:D016470]
synonym: "Bacteremias" BROAD [MESH:D016470]
synonym: "bacterial sepsis" RELATED [DOID:0040085]
synonym: "symptomatic bacteremia" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0040085 {source="MONDO:equivalentTo"}
xref: EFO:0003033 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:790.7 {source="EFO:0003033"}
xref: MEDGEN:482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016470 {source="EFO:0003033", source="MONDO:equivalentTo"}
xref: NCIT:C102993 {source="EFO:0003033", source="MONDO:otherHierarchy"}
xref: SCTID:5758002 {source="EFO:0003033", source="MONDO:equivalentTo"}
xref: UMLS:C0004610 {source="MEDGEN:482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Bacteremia {source="EFO:0003033"}
is_a: MONDO:0005113 {source="EFO:0003033", source="MESH:D016470", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:1040015 {source="PMID:26903338"} ! infectious disease with sepsis
intersection_of: MONDO:0005113 ! bacterial infectious disease
intersection_of: disease_has_feature HP:0100806 ! Sepsis

[Term]
id: MONDO:0005230
name: cellulitis
def: "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area." [NCIT:C26715]
subset: otar {source="MONDO:OTAR"}
synonym: "cellulitis" EXACT [MONDO:ambiguous]
synonym: "cellulitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:3488 {source="EFO:0003035", source="MONDO:equivalentTo"}
xref: EFO:0003035 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100658 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L03.90 {source="DOID:3488"}
xref: ICD9:682.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:682.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:40174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002481 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo"}
xref: NCIT:C26715 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo"}
xref: NCIT:C34454 {source="DOID:3488"}
xref: SCTID:128045006 {source="EFO:0003035", source="DOID:3488", source="MONDO:equivalentTo"}
xref: SCTID:156313004 {source="DOID:3488"}
xref: SCTID:156317003 {source="DOID:3488"}
xref: SCTID:191132005 {source="DOID:3488"}
xref: SCTID:200693005 {source="DOID:3488"}
xref: SCTID:267833003 {source="DOID:3488"}
xref: SCTID:385627004 {source="EFO:0003035", source="DOID:3488"}
xref: SCTID:62837005 {source="DOID:3488"}
xref: SCTID:74276003 {source="DOID:3488"}
xref: UMLS:C0007642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40174"}
xref: Wikipedia:Cellulitis {source="EFO:0003035"}
is_a: MONDO:0005093 {source="DOID:3488", source="EFO:0003035", source="MESH:D002481/inferred", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0005113 {source="MONDO:Redundant", source="NCIT:C26715"} ! bacterial infectious disease
relationship: disease_has_feature HP:0008066 ! Abnormal blistering of the skin
relationship: disease_has_feature HP:0100658 ! Cellulitis
property_value: IAO:0000589 "cellulitis (disease)" xsd:string

[Term]
id: MONDO:0005231
name: hepatitis C virus infection
def: "A viral infection caused by the hepatitis C virus." [NCIT:C3098]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic hepatitis C" NARROW [DOID:1883]
synonym: "hepatitis C infection" EXACT [DOID:1883]
synonym: "Hepatitis C virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepatitis C virus hepatitis" EXACT []
synonym: "hepatitis Nona nonB" EXACT [DOID:1883]
synonym: "hepatitis type C" EXACT [DOID:1883, MONDORULE:1]
synonym: "NANBH" EXACT ABBREVIATION [DOID:1883, NCIT:C3098]
synonym: "non-A, non-B Hepatitis" EXACT [NCIT:C3098]
synonym: "viral hepatitis C" EXACT [DOID:1883]
xref: DOID:1883 {source="MONDO:equivalentTo"}
xref: EFO:0003047 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B19.2 {source="DOID:1883"}
xref: ICD10CM:B19.20 {source="DOID:1883"}
xref: ICD9:070.41 {source="EFO:0003047"}
xref: ICD9:070.54 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:070.7 {source="DOID:1883"}
xref: MEDGEN:42425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006526 {source="DOID:1883", source="MONDO:equivalentTo"}
xref: MESH:D019698 {source="DOID:1883"}
xref: NCIT:C3098 {source="EFO:0003047", source="DOID:1883", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:123324009 {source="DOID:1883"}
xref: SCTID:128302006 {source="MONDO:equivalentTo"}
xref: SCTID:154349000 {source="DOID:1883"}
xref: SCTID:186634008 {source="DOID:1883"}
xref: SCTID:186643004 {source="DOID:1883"}
xref: SCTID:50711007 {source="EFO:0003047", source="DOID:1883"}
xref: UMLS:C0019196 {source="MEDGEN:42425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006011 {source="EFO:0003047", source="MESH:D006526", source="MONDO:Redundant", source="NCIT:C3098/inferred"} ! viral hepatitis
intersection_of: MONDO:0002251 ! hepatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11103 ! disease has primary infectious agent
relationship: disease_has_infectious_agent NCBITaxon:11103 {source="MONDO:Wikidata"}
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:1883", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0005232
name: large cell carcinoma
def: "A malignant epithelial neoplasm composed of large, atypical cells." [NCIT:C3780]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma, large cell" EXACT [NCIT:C3780]
synonym: "large cell carcinoma" EXACT [NCIT:C3780]
xref: DOID:4552 {source="MONDO:equivalentTo", source="EFO:0003050"}
xref: ICDO:8012/3 {source="NCIT:C3780"}
xref: MEDGEN:61665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018287 {source="DOID:4552", source="MONDO:equivalentTo", source="EFO:0003050"}
xref: NCIT:C3780 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:189551005 {source="DOID:4552"}
xref: SCTID:22687000 {source="DOID:4552", source="EFO:0003050"}
xref: UMLS:C0206704 {source="MEDGEN:61665", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="DOID:4552", source="MESH:D018287", source="NCIT:C3780", source="https://orcid.org/0000-0002-6601-2165"} ! carcinoma

[Term]
id: MONDO:0005233
name: non-small cell lung carcinoma
def: "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "non small cell lung cancer NOS" RELATED EXCLUDE [NCIT:C2926]
synonym: "non-small cell cancer of lung" EXACT [NCIT:C2926]
synonym: "non-small cell cancer of the lung" EXACT [NCIT:C2926]
synonym: "non-small cell carcinoma of lung" EXACT [NCIT:C2926]
synonym: "non-small cell carcinoma of the lung" EXACT [NCIT:C2926]
synonym: "non-small cell lung cancer" EXACT [DOID:3908, NCIT:C2926]
synonym: "non-small cell lung cancer, NOS" RELATED EXCLUDE [NCIT:C2926]
synonym: "non-small cell lung carcinoma" EXACT CLINGEN_LABEL [MONDO:ambiguous, NCIT:C2926]
synonym: "non-small cell lung carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "NSCLC" EXACT ABBREVIATION [DOID:3908, NCIT:C2926, Orphanet:488201]
synonym: "NSCLC - non-small cell lung cancer" EXACT [NCIT:C2926]
xref: DOID:3908 {source="MONDO:equivalentTo", source="EFO:0003060"}
xref: EFO:0003060 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0030358 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C34 {source="DOID:3908"}
xref: MEDGEN:40104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002289 {source="DOID:3908", source="MONDO:equivalentTo", source="EFO:0003060"}
xref: NCIT:C2926 {source="DOID:3908", source="MONDO:equivalentTo", source="EFO:0003060"}
xref: ONCOTREE:NSCLC {source="MONDO:equivalentTo"}
xref: Orphanet:488201 {source="MONDO:equivalentObsolete"}
xref: SCTID:254637007 {source="DOID:3908", source="MONDO:equivalentTo", source="EFO:0003060"}
xref: UMLS:C0007131 {source="MEDGEN:40104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005138 {source="DOID:3908", source="EFO:0003060", source="NCIT:C2926"} ! lung carcinoma
property_value: IAO:0000589 "non-small cell lung carcinoma (disease)" xsd:string

[Term]
id: MONDO:0005234
name: obsolete polymyositis
is_obsolete: true
replaced_by: MONDO:0019127

[Term]
id: MONDO:0005235
name: smoldering plasma cell myeloma
def: "A plasma cell myeloma lacking clinical manifestations and organ impairment." [NCIT:C7149]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asymptomatic myeloma" EXACT [NCIT:C7149]
synonym: "asymptomatic plasma cell myeloma" EXACT [NCIT:C7149]
synonym: "smoldering multiple myeloma" EXACT [NCIT:C7149]
synonym: "smoldering Multiple myeloma/plasma cell myeloma" EXACT [NCIT:C7149]
synonym: "smoldering myeloma" EXACT [DOID:9551, NCIT:C7149]
synonym: "smoldering plasma cell myeloma" EXACT [NCIT:C7149]
synonym: "smouldering multiple myeloma" EXACT OMO:0003005 []
synonym: "smouldering Multiple myeloma/plasma cell myeloma" EXACT OMO:0003005 []
synonym: "smouldering myeloma" EXACT OMO:0003005 []
xref: DOID:9551 {source="MONDO:equivalentTo", source="EFO:0003073"}
xref: EFO:0003073 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:280653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7149 {source="MONDO:equivalentTo", source="EFO:0003073"}
xref: SCTID:413587002 {source="EFO:0003073"}
xref: SCTID:440422002 {source="MONDO:equivalentTo"}
xref: UMLS:C1531608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:280653"}
is_a: MONDO:0009693 {source="DOID:9551", source="EFO:0003073", source="NCIT:C7149"} ! plasma cell myeloma

[Term]
id: MONDO:0005236
name: xanthoma
def: "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues." [NCIT:C4071]
subset: otar {source="MONDO:OTAR"}
synonym: "xanthoma" EXACT [MONDO:ambiguous]
synonym: "xanthoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0003075 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001114 {source="MONDO:otherHierarchy"}
xref: MEDGEN:86216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4071 {source="MONDO:equivalentTo", source="EFO:0003075"}
xref: UMLS:C0302314 {source="MEDGEN:86216", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="EFO:0003075", source="https://www.ncbi.nlm.nih.gov/books/NBK562241/"} ! metabolic disease
property_value: IAO:0000589 "xanthoma (disease)" xsd:string

[Term]
id: MONDO:0005237
name: obsolete pleomorphic liposarcoma
is_obsolete: true
replaced_by: MONDO:0020562

[Term]
id: MONDO:0005238
name: round cell liposarcoma
def: "A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." [NCIT:C4252]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cellular myxoid liposarcoma" EXACT [DOID:5692, NCIT:C4252]
synonym: "round cell liposarcoma" EXACT [NCIT:C4252]
synonym: "round cell liposarcoma (morphologic abnormality)" EXACT [DOID:5692]
xref: DOID:5692 {source="MONDO:equivalentTo", source="EFO:0003084"}
xref: EFO:0003084 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8853/3 {source="NCIT:C4252"}
xref: MEDGEN:90787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4252 {source="MONDO:equivalentTo", source="DOID:5692", source="EFO:0003084"}
xref: SCTID:404070007 {source="MONDO:equivalentTo", source="DOID:5692", source="EFO:0003084"}
xref: SCTID:43296007 {source="DOID:5692", source="EFO:0003084"}
xref: UMLS:C0334471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90787"}
is_a: MONDO:0005060 {source="DOID:5692", source="EFO:0003084"} ! liposarcoma
is_a: MONDO:0020561 ! myxoid/round cell liposarcoma

[Term]
id: MONDO:0005239
name: obsolete dedifferentiated liposarcoma
is_obsolete: true
replaced_by: MONDO:0020563

[Term]
id: MONDO:0005240
name: kidney disorder
def: "A disease involving the kidney." [https://orcid.org/0000-0002-6601-2165]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "disease of kidney" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of kidney" EXACT []
synonym: "disorder of kidney" EXACT [MONDO:patterns/location_top]
synonym: "kidney disease" EXACT [MONDO:patterns/location]
synonym: "kidney disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "kidney disorder" EXACT [NCIT:C3149]
synonym: "nephropathy" RELATED [DOID:557]
synonym: "renal disease" EXACT [NCIT:C3149]
synonym: "renal disorder" EXACT [NCIT:C3149]
xref: DOID:557 {source="MONDO:equivalentTo", source="EFO:0003086"}
xref: EFO:0003086 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N08 {source="DOID:557"}
xref: ICD10CM:N25-N29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:N28.9 {source="DOID:557"}
xref: ICD9:583.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007674 {source="DOID:557", source="MONDO:equivalentTo", source="EFO:0003086"}
xref: NCIT:C3149 {source="DOID:557", source="MONDO:equivalentTo", source="EFO:0003086"}
xref: NCIT:C34843 {source="DOID:557", source="EFO:0003086"}
xref: SCTID:155871008 {source="DOID:557"}
xref: SCTID:266612003 {source="DOID:557"}
xref: SCTID:266624005 {source="DOID:557"}
xref: SCTID:266627003 {source="DOID:557"}
xref: SCTID:274108006 {source="DOID:557"}
xref: SCTID:90708001 {source="DOID:557", source="MONDO:equivalentTo", source="EFO:0003086"}
xref: UMLS:C0022658 {source="MEDGEN:9635", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="DOID:557", source="MESH:D007674", source="MONDO:Redundant", source="NCIT:C3149"} ! urinary system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0005241
name: obsolete adrenocortical carcinoma
synonym: "obsolete adrenocortical carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete adrenocortical carcinoma (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0006639

[Term]
id: MONDO:0005242
name: empyema
def: "An accumulation of pus in a body cavity, usually the pleural space." [NCIT:C34572]
subset: otar {source="MONDO:OTAR"}
synonym: "collection of pus" RELATED []
xref: EFO:0003097 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:510 {source="EFO:0003097"}
xref: MEDGEN:8597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004653 {source="MONDO:equivalentTo", source="EFO:0003097"}
xref: NCIT:C34572 {source="MONDO:equivalentTo", source="EFO:0003097"}
xref: SCTID:312682007 {source="MONDO:equivalentTo", source="EFO:0003097"}
xref: SCTID:66696003 {source="EFO:0003097"}
xref: UMLS:C0014009 {source="MEDGEN:8597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:0003097", source="NCIT:C34572"} ! bacterial infectious disease

[Term]
id: MONDO:0005243
name: obsolete Cushing syndrome
is_obsolete: true
replaced_by: MONDO:0018912

[Term]
id: MONDO:0005244
name: peripheral neuropathy
def: "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." [NCIT:C119734]
comment: Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20
subset: gard_rare {source="GARD:12192", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuropathy" EXACT [MONDO:0005337, NCIT:C4731]
synonym: "peripheral nerve disorder" EXACT [NCIT:C119734]
synonym: "peripheral neuropathy" EXACT [DOID:870, https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20]
xref: DOID:870 {source="EFO:0004149", source="MONDO:equivalentTo"}
xref: EFO:0003100 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12192 {source="MONDO:GARD"}
xref: ICD10CM:G62.9 {source="DOID:870"}
xref: MedDRA:10034606 {source="EFO:0003100"}
xref: MEDGEN:18386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C119734 {source="EFO:0003100", source="MONDO:equivalentTo"}
xref: NCIT:C4731 {source="EFO:0004149", source="MONDO:equivalentTo", source="DOID:870"}
xref: SCTID:193167000 {source="DOID:870"}
xref: SCTID:264554005 {source="DOID:870"}
xref: SCTID:277317008 {source="DOID:870"}
xref: SCTID:277878001 {source="DOID:870"}
xref: SCTID:386033004 {source="EFO:0004149", source="MONDO:equivalentTo", source="DOID:870"}
xref: SCTID:42658009 {source="DOID:870"}
xref: UMLS:C0031117 {source="MEDGEN:18386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003620 {source="DOID:870", source="NCIT:C119734", source="NCIT:C119734/inferred", source="NCIT:C4731"} ! peripheral nervous system disorder
is_a: MONDO:0019056 {source="ISBN-13:978-1-259-64403-0"} ! neuromuscular disease
relationship: disease_has_location UBERON:0000010 {comment="may also include optic nerve which is not PNS"} ! peripheral nervous system

[Term]
id: MONDO:0005245
name: obsolete testicular seminoma
synonym: "obsolete testicular seminoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete testicular seminoma (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0003669

[Term]
id: MONDO:0005246
name: osteomyelitis
def: "An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria." [NCIT:P378]
subset: gard_rare {source="GARD:7286", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteomyelitis" EXACT [MONDO:ambiguous]
synonym: "osteomyelitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1019 {source="EFO:0003102", source="MONDO:equivalentTo"}
xref: EFO:0003102 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7286 {source="MONDO:GARD"}
xref: HP:0002754 {source="MONDO:otherHierarchy"}
xref: ICD9:730.0 {source="EFO:0003102"}
xref: ICD9:730.01 {source="DOID:1019"}
xref: ICD9:730.1 {source="EFO:0003102", source="DOID:1019"}
xref: ICD9:730.10 {source="DOID:1019"}
xref: ICD9:730.11 {source="DOID:1019"}
xref: ICD9:730.20 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:730.28 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:730.92 {source="EFO:0003102"}
xref: ICD9:730.93 {source="EFO:0003102"}
xref: ICD9:730.94 {source="EFO:0003102"}
xref: ICD9:730.96 {source="EFO:0003102"}
xref: ICD9:730.97 {source="EFO:0003102"}
xref: MEDGEN:10497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010019 {source="EFO:0003102", source="MONDO:equivalentTo"}
xref: NCIT:C27577 {source="EFO:0003102", source="MONDO:equivalentTo"}
xref: SCTID:156791003 {source="DOID:1019"}
xref: SCTID:156800002 {source="DOID:1019"}
xref: SCTID:203181001 {source="DOID:1019"}
xref: SCTID:203183003 {source="DOID:1019"}
xref: SCTID:203205002 {source="DOID:1019"}
xref: SCTID:40970001 {source="DOID:1019"}
xref: SCTID:60168000 {source="EFO:0003102", source="MONDO:equivalentTo"}
xref: UMLS:C0029443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10497"}
is_a: MONDO:0002614 {source="DOID:1019"} ! bone inflammation disease
relationship: disease_has_location UBERON:0002371 {source="EFO:0000784"} ! bone marrow
relationship: excluded_subClassOf MONDO:0005113 {source="EFO:0003102", source="https://orcid.org/0000-0001-5208-3432"} ! bacterial infectious disease
property_value: IAO:0000589 "osteomyelitis (disease)" xsd:string

[Term]
id: MONDO:0005247
name: bacterial urinary tract infection
def: "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bacterial urinary tract infection (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "infection, urinary tract" BROAD [NCIT:C50791]
synonym: "tract, infection of urinary" BROAD [NCIT:C50791]
synonym: "urinary tract infection" BROAD [MONDO:ambiguous]
synonym: "urinary tract infection (disease)" BROAD []
synonym: "urinary tract infectious disease" BROAD [NCIT:C50791]
synonym: "UTI" BROAD ABBREVIATION [NCIT:C50791]
xref: ICD9:599.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:675826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C50791 {source="EFO:0003103", source="MONDO:equivalentTo"}
xref: SCTID:68566005 {source="MONDO:equivalentTo"}
xref: UMLS:C0729524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:675826"}
is_a: MONDO:0005113 {source="EFO:0003103", source="MONDO:Entailed", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005113 ! bacterial infectious disease
intersection_of: disease_has_location UBERON:0001008 ! renal system
property_value: IAO:0000589 "bacterial urinary tract infection (disease)" xsd:string

[Term]
id: MONDO:0005249
name: pneumonia
def: "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute pneumonia" NARROW [DOID:552]
xref: DOID:552 {source="EFO:0003106", source="MONDO:equivalentTo"}
xref: EFO:0003106 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J09-J18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J15 {source="MONDO:relatedTo"}
xref: ICD10CM:J18.9 {source="MONDO:equivalentTo"}
xref: ICD9:483 {source="EFO:0003106"}
xref: ICD9:483.8 {source="EFO:0003106"}
xref: ICD9:484.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:486 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011014 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"}
xref: NCIT:C3333 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"}
xref: SCTID:155548002 {source="DOID:552"}
xref: SCTID:155552002 {source="DOID:552"}
xref: SCTID:155558003 {source="DOID:552"}
xref: SCTID:233604007 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"}
xref: SCTID:266391003 {source="DOID:552"}
xref: SCTID:274103002 {source="DOID:552"}
xref: SCTID:60363000 {source="DOID:552"}
xref: UMLS:C0032285 {source="MEDGEN:10813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 {source="EFO:0003106"} ! infectious disease
is_a: MONDO:0043905 {source="https://github.com/monarch-initiative/mondo/issues/1439", source="https://www.mayoclinic.org/diseases-conditions/pneumonitis/symptoms-causes/syc-20352623"} ! pneumonitis
relationship: disease_has_feature HP:0002789 {source="MONDO:Wikidata"} ! Tachypnea
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung
relationship: excluded_subClassOf MONDO:0005275 {source="DOID:552", source="MESH:D011014", source="MONDO:Redundant", source="NCIT:C3333/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! lung disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3790" xsd:anyURI

[Term]
id: MONDO:0005250
name: placental villitis
def: "Inflammatory process that involves the chorionic villi (villitis) of the placenta." [EFO:0003110]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003110 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:693918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:388604008 {source="EFO:0003110", source="MONDO:equivalentTo"}
xref: UMLS:C1270169 {source="MEDGEN:693918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="EFO:0003110"} ! reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0007106 ! chorionic villus

[Term]
id: MONDO:0005251
name: obsolete pauciarticular juvenile rheumatoid arthritis
def: "OBSOLETE. A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." [EFO:0003114]
xref: ICD10CM:M08.4 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:714.32 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: SCTID:74391003 {source="MONDO:obsoleteEquivalent", source="EFO:0003114"}
is_obsolete: true

[Term]
id: MONDO:0005252
name: heart failure
def: "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." [EFO:0003144]
subset: otar {source="MONDO:OTAR"}
synonym: "cardiac failure" EXACT [NCIT:C50577]
synonym: "cardiac insufficiency" EXACT [NCIT:C50577]
synonym: "failure, heart" EXACT [NCIT:C50577]
synonym: "heart failure" EXACT [Wikipedia:Heart_failure]
synonym: "insufficiency, Cardiac" EXACT [NCIT:C50577]
xref: EFO:0003144 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:428 {source="EFO:0003144"}
xref: ICD9:428.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006333 {source="EFO:0003144", source="MONDO:equivalentTo"}
xref: NCIT:C50577 {source="EFO:0003144", source="MONDO:equivalentTo"}
xref: SCTID:84114007 {source="EFO:0003144", source="MONDO:equivalentTo"}
xref: UMLS:C0018801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6749"}
is_a: MONDO:0005267 {source="MESH:D006333", source="NCIT:C50577/inferred"} ! heart disorder
relationship: disease_has_location UBERON:0000948 {source="EFO:0000784"} ! heart

[Term]
id: MONDO:0005253
name: high output heart failure
def: "High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." [EFO:0003145]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003145 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:526135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:10091002 {source="EFO:0003145", source="MONDO:equivalentTo"}
xref: UMLS:C0221045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:526135"}
xref: Wikipedia:High-output_cardiac_failure {source="EFO:0003145"}
is_a: MONDO:0005252 {source="EFO:0003145"} ! heart failure

[Term]
id: MONDO:0005254
name: symptomatic heart failure
def: "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc" [EFO:0003146]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003146 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005252 {source="EFO:0003146"} ! heart failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005255
name: mild heart failure
def: "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." [EFO:0003147]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003147 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003147"}
is_a: MONDO:0005254 {source="EFO:0003147"} ! symptomatic heart failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005256
name: moderate heart failure
def: "Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest." [EFO:0003148]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003148 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003148"}
is_a: MONDO:0005254 {source="EFO:0003148"} ! symptomatic heart failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005257
name: advanced heart failure
def: "Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." [EFO:0003149]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003149 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: Wikipedia:New_York_Heart_Association_Functional_Classification {source="EFO:0003149"}
is_a: MONDO:0005254 {source="EFO:0003149"} ! symptomatic heart failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005258
name: autism spectrum disorder
def: "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical autism" RELATED [DOID:0060042]
synonym: "autism spectrum disorder" EXACT CLINGEN_LABEL []
synonym: "autistic spectrum disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "pervasive developmental disorder - not otherwise specified" EXACT [MONDO:0005261]
synonym: "pervasive developmental disorders" EXACT [NCIT:C88412]
xref: DOID:0060041 {source="MONDO:equivalentTo", source="EFO:0003756"}
xref: DOID:0060042 {source="MONDO:relatedTo", source="EFO:0003759"}
xref: EFO:0003756 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: EFO:0003759 {source="MONDO:preferredExternal"}
xref: MEDGEN:307153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002659 {source="EFO:0003756"}
xref: NCIT:C88412 {source="MONDO:equivalentTo", source="EFO:0003756"}
xref: Orphanet:106 {source="MONDO:equivalentObsolete"}
xref: SCTID:231536004 {source="MONDO:relatedTo", source="EFO:0003759"}
xref: SCTID:408856003 {source="MONDO:equivalentTo"}
xref: UMLS:C1510586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307153"}
is_a: MONDO:0000594 {source="DOID:0060041", source="NCIT:C88412"} ! pervasive developmental disorder

[Term]
id: MONDO:0005259
name: Asperger syndrome
def: "A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism." [NCIT:C97159]
comment: The name Aspergers is controversial, however, it seems to be the community accepted name. {xref="https://github.com/monarch-initiative/mondo/issues/705", xref="https://blogs.scientificamerican.com/observations/the-problem-with-aspergers/", xref="https://github.com/EBISPOT/efo/issues/275"}
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asperger syndrome, susceptibility to" RELATED [OMIMPS:608638]
synonym: "ASPG" BROAD ABBREVIATION []
synonym: "autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language" EXACT [https://github.com/monarch-initiative/mondo/issues/705]
xref: DOID:0050432 {source="MONDO:equivalentTo", source="EFO:0003757"}
xref: EFO:0003757 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F84.5 {source="DOID:0050432"}
xref: MEDGEN:68633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020817 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"}
xref: NCIT:C97159 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"}
xref: Orphanet:1162 {source="DOID:0050432", source="MONDO:equivalentObsolete"}
xref: SCTID:154879004 {source="DOID:0050432"}
xref: SCTID:192586006 {source="DOID:0050432"}
xref: SCTID:23560001 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"}
xref: UMLS:C0236792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68633"}
is_a: MONDO:0005258 {source="DOID:0050432", source="EFO:0003757", source="NCIT:C97159"} ! autism spectrum disorder

[Term]
id: MONDO:0005260
name: autism
def: "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [PMID:28879490]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autism" EXACT [DOID:12849, MONDO:ambiguous, OMIM:209850]
synonym: "autism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "autism spectrum disorder" BROAD [OMIM:209850]
synonym: "autism, susceptiblity to" NARROW [OMIMPS:209850]
synonym: "autistic disorder" RELATED [OMIM:209850]
synonym: "autistic disorder of childhood onset" EXACT [DOID:12849]
synonym: "childhood autism" EXACT [DOID:12849]
synonym: "infantile autism" EXACT [DOID:12849]
synonym: "Kanner's syndrome" EXACT [DOID:12849]
xref: DOID:12849 {source="MONDO:equivalentTo", source="EFO:0003758"}
xref: EFO:0003758 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000717 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F84.0 {source="DOID:12849"}
xref: ICD9:299.0 {source="DOID:12849", source="EFO:0003758"}
xref: MEDGEN:13966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001321 {source="DOID:12849", source="MONDO:equivalentTo", source="EFO:0003758"}
xref: NCIT:C97161 {source="DOID:12849", source="MONDO:equivalentTo", source="EFO:0003758"}
xref: OMIM:209850 {source="DOID:12849", source="MONDO:equivalentTo"}
xref: OMIMPS:209850 {source="MONDO:relatedTo"}
xref: Orphanet:106 {source="DOID:12849", source="OMIM:209850"}
xref: SCTID:154878007 {source="DOID:12849"}
xref: SCTID:191688000 {source="DOID:12849"}
xref: SCTID:191691000 {source="DOID:12849"}
xref: SCTID:192581001 {source="DOID:12849"}
xref: SCTID:271450003 {source="DOID:12849"}
xref: SCTID:34883005 {source="DOID:12849"}
xref: SCTID:38763009 {source="DOID:12849"}
xref: SCTID:408856003 {source="DOID:12849", source="EFO:0003758"}
xref: SCTID:408857007 {source="DOID:12849", source="EFO:0003758"}
xref: SCTID:43614003 {source="DOID:12849"}
xref: UMLS:C0004352 {source="MEDGEN:13966", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005258 {source="DOID:12849", source="EFO:0003758", source="NCIT:C97161"} ! autism spectrum disorder
relationship: disease_has_feature HP:0000750 ! Delayed speech and language development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3954" xsd:anyURI
property_value: IAO:0000589 "autism (disease)" xsd:string

[Term]
id: MONDO:0005261
name: obsolete pervasive developmental disorder - not otherwise specified
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2505" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005258

[Term]
id: MONDO:0005262
name: central nervous system cyst
def: "A congenital or acquired cyst that is present in the central nervous system." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "central nervous system cyst" EXACT [MONDO:ambiguous]
synonym: "central nervous system cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cleft cysts, Rathke's" RELATED [MESH:D020863]
synonym: "CNS cyst" EXACT [NCIT:C4657]
synonym: "cyst of Central nervous system" EXACT [NCIT:C4657]
synonym: "cyst of CNS" EXACT [NCIT:C4657]
synonym: "cyst of the Central nervous system" EXACT [NCIT:C4657]
synonym: "cyst of the CNS" EXACT [NCIT:C4657]
synonym: "cyst, suprasellar" RELATED [MESH:D020863]
synonym: "cysts, central nervous system" RELATED [MESH:D020863]
synonym: "cysts, Rathke cleft" RELATED [MESH:D020863]
synonym: "cysts, suprasellar" RELATED [MESH:D020863]
synonym: "Rathke cleft cysts" RELATED [MESH:D020863]
synonym: "Rathke's cleft cysts" RELATED [MESH:D020863]
synonym: "Rathkes cleft cysts" RELATED [MESH:D020863]
synonym: "suprasellar cyst" RELATED [MESH:D020863]
synonym: "suprasellar cysts" RELATED [MESH:D020863]
xref: EFO:0003760 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0030724 {source="MONDO:otherHierarchy"}
xref: MEDGEN:138106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020863 {source="EFO:0003760", source="MONDO:equivalentTo"}
xref: NCIT:C4657 {source="EFO:0003760", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:277333006 {source="EFO:0003760", source="MONDO:equivalentTo"}
xref: UMLS:C0349606 {source="MONDO:equivalentTo", source="MEDGEN:138106", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 ! brain disorder
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain
property_value: IAO:0000589 "central nervous system cyst (disease)" xsd:string

[Term]
id: MONDO:0005263
name: obsolete unipolar depression
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2862" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002009

[Term]
id: MONDO:0005264
name: transient ischemic attack
def: "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit." [NCIT:C50781]
subset: otar {source="MONDO:OTAR"}
synonym: "attack, transient ischaemic" EXACT OMO:0003005 []
synonym: "attack, transient ischemic" EXACT [NCIT:C50781]
synonym: "ischaemic attack, transient" EXACT OMO:0003005 []
synonym: "ischemic attack, transient" EXACT [NCIT:C50781]
synonym: "TIA" EXACT ABBREVIATION [DOID:224, NCIT:C50781]
synonym: "TIA - transient ischaemic attack" EXACT OMO:0003005 []
synonym: "TIA - transient ischemic attack" EXACT [DOID:224]
synonym: "transient cerebral ischaemia" EXACT [DOID:224]
synonym: "transient cerebral ischaemia NOS" RELATED EXCLUDE [DOID:224]
synonym: "transient cerebral ischemia" RELATED [DOID:224]
synonym: "transient cerebral ischemia (disorder) [ambiguous]" EXACT [DOID:224]
synonym: "transient ischaemic attack (disease)" EXACT OMO:0003005 []
synonym: "transient ischaemic attacks" EXACT OMO:0003005 []
synonym: "transient ischemic attack" EXACT [DOID:224, MONDO:ambiguous, MTH:NOCODE, NCIT:C50781]
synonym: "transient ischemic attack (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "transient ischemic attacks" EXACT [NCIT:C50781]
xref: DOID:224 {source="EFO:0003764", source="MONDO:equivalentTo"}
xref: EFO:0003764 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002326 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G45.9 {source="DOID:224"}
xref: ICD9:435 {source="EFO:0003764"}
xref: ICD9:435.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:224"}
xref: ICD9:435.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002546 {source="EFO:0003764", source="MONDO:equivalentTo", source="DOID:224"}
xref: NCIT:C50781 {source="EFO:0003764", source="MONDO:equivalentTo", source="DOID:224"}
xref: SCTID:155404005 {source="DOID:224"}
xref: SCTID:195196001 {source="DOID:224"}
xref: SCTID:195207009 {source="DOID:224"}
xref: SCTID:266257000 {source="EFO:0003764", source="MONDO:equivalentTo", source="DOID:224"}
xref: SCTID:266314007 {source="DOID:224"}
xref: SCTID:313242003 {source="DOID:224"}
xref: SCTID:38609002 {source="DOID:224"}
xref: UMLS:C0007787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:853"}
is_a: MONDO:0005299 {source="DOID:224", source="MESH:D002546", source="MONDO:Redundant", source="NCIT:C50781"} ! brain ischemia
is_a: MONDO:0011057 {source="EFO:0003764", source="MESH:D002546/inferred", source="MONDO:Redundant", source="NCIT:C50781/inferred"} ! cerebrovascular disorder
intersection_of: MONDO:0005299 ! brain ischemia
intersection_of: has_characteristic HP:0025153 ! Transient
property_value: IAO:0000589 "transient ischemic attack (disease)" xsd:string

[Term]
id: MONDO:0005265
name: inflammatory bowel disease
def: "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." [NCIT:C3138]
subset: otar {source="MONDO:OTAR"}
synonym: "autoimmune bowel disorder" EXACT [NCIT:C3138]
synonym: "IBD" EXACT ABBREVIATION [NCIT:C3138]
synonym: "inflammatory bowel disease" EXACT [NCIT:C3138]
xref: DOID:0050589 {source="MONDO:equivalentTo", source="EFO:0003767"}
xref: EFO:0003767 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:43877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015212 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767"}
xref: NANDO:2100259 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3138 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767"}
xref: OMIMPS:266600 {source="MONDO:equivalentTo", source="DOID:0050589"}
xref: SCTID:155759008 {source="DOID:0050589"}
xref: SCTID:196974002 {source="DOID:0050589"}
xref: SCTID:24526004 {source="MONDO:equivalentTo", source="DOID:0050589", source="EFO:0003767"}
xref: SCTID:266516008 {source="DOID:0050589"}
xref: UMLS:C0021390 {source="MEDGEN:43877", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:0050589", source="EFO:0003767", source="MESH:D015212", source="NCIT:C3138/inferred"} ! intestinal disorder
relationship: disease_has_location UBERON:0002405 {source="EFO:0000784"} ! immune system
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:266600"} ! inherited

[Term]
id: MONDO:0005266
name: diabetic retinopathy
def: "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "retinal abnormality - diabetes-related" EXACT [DOID:8947]
xref: DOID:8947 {source="EFO:0003770", source="MONDO:equivalentTo"}
xref: EFO:0003770 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:362.0 {source="EFO:0003770", source="DOID:8947"}
xref: MEDGEN:3786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003930 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"}
xref: NCIT:C34538 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"}
xref: SCTID:141196007 {source="DOID:8947"}
xref: SCTID:154678005 {source="DOID:8947"}
xref: SCTID:155107006 {source="DOID:8947"}
xref: SCTID:163997001 {source="DOID:8947"}
xref: SCTID:193353002 {source="DOID:8947"}
xref: SCTID:267471001 {source="DOID:8947"}
xref: SCTID:309595004 {source="DOID:8947"}
xref: SCTID:4855003 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"}
xref: UMLS:C0011884 {source="MEDGEN:3786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002311 {source="DOID:8947", source="NCIT:C34538"} ! retinal vascular disorder
is_a: MONDO:0005066 {source="EFO:0003770", source="MESH:D003930/inferred"} ! metabolic disease
is_a: MONDO:0005283 {source="DOID:8947/inferred", source="MESH:D003930", source="MONDO:Redundant", source="NCIT:C34538"} ! retinal disorder
intersection_of: MONDO:0005283 ! retinal disorder
intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus
relationship: disease_has_location UBERON:0000966 {source="EFO:0000784"} ! retina

[Term]
id: MONDO:0005267
name: heart disorder
def: "A disease involving the heart and/or pericardium." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "cardiac disease" EXACT [DOID:114]
synonym: "disease of heart" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of heart" EXACT []
synonym: "disorder of heart" EXACT [MONDO:patterns/location_top]
synonym: "disorder of heart/pericardium" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
synonym: "heart disease" EXACT [MONDO:patterns/location, NCIT:C3079]
synonym: "heart disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "heart disorder" EXACT [NCIT:C3079]
synonym: "heart trouble" EXACT [NCIT:C3079]
synonym: "heart/pericardial disease" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
synonym: "heart/pericardial disease or disorder" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
synonym: "heart/pericardial disorder" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
synonym: "heart/pericardial trouble" EXACT [https://github.com/monarch-initiative/mondo/issues/1189]
xref: DOID:114 {source="EFO:0003777", source="MONDO:equivalentTo"}
xref: EFO:0003777 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I30-I5A {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I51.9 {source="DOID:114"}
xref: ICD9:429.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:429.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:114"}
xref: ICD9:V47.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006331 {source="EFO:0003777", source="MONDO:equivalentTo", source="DOID:114"}
xref: NCIT:C3079 {source="MONDO:equivalentTo", source="DOID:114"}
xref: SCTID:155263000 {source="DOID:114"}
xref: SCTID:194707003 {source="DOID:114"}
xref: SCTID:195152001 {source="DOID:114"}
xref: SCTID:266275004 {source="DOID:114"}
xref: SCTID:266311004 {source="DOID:114"}
xref: SCTID:56265001 {source="EFO:0003777", source="MONDO:equivalentTo", source="DOID:114"}
xref: UMLS:C0018799 {source="MEDGEN:5458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="DOID:114", source="EFO:0003777", source="MESH:D006331", source="MONDO:Redundant", source="NCIT:C3079"} ! cardiovascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0015410 ! heart plus pericardium

[Term]
id: MONDO:0005268
name: obsolete Hashimoto's thyroiditis
is_obsolete: true
replaced_by: MONDO:0007699

[Term]
id: MONDO:0005269
name: carotid artery disorder
def: "A disease involving the carotid artery segment." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carotid artery disorder" EXACT [NCIT:C84476]
synonym: "carotid artery segment disease" EXACT [MONDO:patterns/location]
synonym: "carotid artery segment disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of carotid artery segment" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of carotid artery segment" EXACT []
synonym: "disorder of carotid artery" EXACT [DOID:3407]
synonym: "disorder of carotid artery segment" EXACT [MONDO:patterns/location_top]
xref: DOID:3407 {source="EFO:0003781", source="MONDO:equivalentTo"}
xref: EFO:0003781 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:447.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:2892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002340 {source="EFO:0003781", source="MONDO:equivalentTo", source="DOID:3407"}
xref: NCIT:C84476 {source="EFO:0003781", source="MONDO:equivalentTo", source="DOID:3407"}
xref: SCTID:300920004 {source="EFO:0003781"}
xref: SCTID:371160000 {source="MONDO:equivalentTo", source="DOID:3407"}
xref: UMLS:C0007273 {source="MEDGEN:2892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011057 {source="DOID:3407", source="MESH:D002340"} ! cerebrovascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0005396 ! carotid artery segment

[Term]
id: MONDO:0005270
name: obsolete motor neuron disease
is_obsolete: true
replaced_by: MONDO:0020128

[Term]
id: MONDO:0005271
name: allergic disease
def: "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures." [NCIT:C114476]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic disease or disorder" EXACT []
synonym: "allergic form of disease or disorder" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic form of immune system disease" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic hypersensitivity disease" RELATED [DOID:1205]
synonym: "allergic reaction" EXACT [NCIT:C114476]
synonym: "allergic response" EXACT [NCIT:C114476]
synonym: "allergy" EXACT [DOID:1205, NCIT:C114476]
synonym: "disorder of type I hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "hypersensitivity" RELATED [DOID:1205]
synonym: "hypersensitivity reaction type I disease" EXACT [DOID:1205]
synonym: "type I hypersensitivity disease" EXACT [MONDO:design_pattern]
xref: DOID:1205 {source="EFO:0003785", source="MONDO:equivalentTo"}
xref: ICD10CM:T78.40 {source="DOID:1205"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:V15.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006967 {source="EFO:0003785", source="MONDO:equivalentTo", source="DOID:1205"}
xref: NCIT:C114476 {source="EFO:0003785", source="MONDO:equivalentTo"}
xref: NCIT:C3114 {source="EFO:0003785", source="DOID:1205"}
xref: SCTID:106190000 {source="DOID:1205"}
xref: SCTID:127072000 {source="DOID:1205"}
xref: SCTID:157754004 {source="DOID:1205"}
xref: SCTID:157758001 {source="DOID:1205"}
xref: SCTID:212998004 {source="DOID:1205"}
xref: SCTID:212999007 {source="DOID:1205"}
xref: SCTID:21957007 {source="DOID:1205"}
xref: SCTID:257550005 {source="DOID:1205"}
xref: SCTID:269284003 {source="DOID:1205"}
xref: SCTID:269432007 {source="DOID:1205"}
xref: SCTID:274211000 {source="DOID:1205"}
xref: SCTID:282092005 {source="DOID:1205"}
xref: SCTID:418168000 {source="DOID:1205"}
xref: SCTID:418634005 {source="DOID:1205"}
xref: SCTID:418925002 {source="DOID:1205"}
xref: SCTID:419076005 {source="EFO:0003785"}
xref: SCTID:421668005 {source="DOID:1205"}
xref: SCTID:421961002 {source="DOID:1205"}
xref: SCTID:609328004 {source="MONDO:equivalentTo"}
xref: SCTID:91232002 {source="DOID:1205"}
xref: UMLS:C0020517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9370"}
is_a: MONDO:0000605 {source="DOID:1205", source="MONDO:Entailed", source="NCIT:C114476"} ! hypersensitivity reaction disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity
disjoint_from: MONDO:0007179 ! autoimmune disease

[Term]
id: MONDO:0005272
name: myelodysplastic syndrome with single lineage dysplasia
def: "A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow." [doi:10.5772/intechopen.82532, https://orcid.org/0000-0002-4142-7153]
comment: This disease was reclassified by the World Health Organization (WHO) in 2016. It was referred to as refractory cytopenia with unilineage dysplasia (RCUD) in the previous classification system. It includes refractory anemia (unilineage erythroid dysplasia), refractory neutropenia (unilineage dysgranulopoiesis), and refractory thrombocytopenia (unilineage dysmegakaryocytopoiesis).
subset: gard_rare {source="GARD:19585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98826"}
subset: orphanet_rare {source="Orphanet:98826"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aregenerative anaemia" RELATED OMO:0003005 []
synonym: "aregenerative anemia" RELATED [NCIT:C2872]
synonym: "MDS with single lineage dysplasia" EXACT ABBREVIATION [doi:10.5772/intechopen.82532]
synonym: "MDS-SLD" EXACT ABBREVIATION [doi:10.5772/intechopen.82532]
synonym: "RA" EXACT ABBREVIATION [NCIT:C2872]
synonym: "refractory anaemia" EXACT OMO:0003005 []
synonym: "refractory anemia" EXACT [NCIT:C2872]
xref: EFO:0003802 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19585 {source="MONDO:GARD"}
xref: icd11.foundation:149518956 {source="MONDO:equivalentTo", source="Orphanet:98826", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9980/3 {source="NCIT:C2872"}
xref: MedDRA:10038269 {source="Orphanet:98826", source="Orphanet:98826/e"}
xref: MEDGEN:415300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000753 {source="MONDO:equivalentTo", source="Orphanet:98826", source="Orphanet:98826/e"}
xref: NCIT:C2872 {source="MONDO:equivalentTo", source="EFO:0003802"}
xref: NCIT:C82591 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:98826 {source="MONDO:equivalentTo"}
xref: SCTID:109996008 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:1153345005 {source="MONDO:equivalentTo"}
xref: SCTID:128845005 {source="EFO:0003802"}
xref: UMLS:C2826318 {source="MEDGEN:415300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018881 {source="EFO:0003802", source="MONDO:Redundant", source="NCIT:C2872/inferred", source="Orphanet:98826/inferred"} ! myelodysplastic syndrome
relationship: excluded_subClassOf MONDO:0019453 {source="Orphanet:98826", source="https://orcid.org/0000-0001-5208-3432"} ! myelodysplastic syndrome with multilineage dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI

[Term]
id: MONDO:0005273
name: obsolete refractory anemia with excess blasts
is_obsolete: true
replaced_by: MONDO:0019454

[Term]
id: MONDO:0005274
name: obsolete MONDO:0005274
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019157

[Term]
id: MONDO:0005275
name: lung disorder
def: "A disease involving the lung." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of lung" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lung" EXACT []
synonym: "disorder of lung" EXACT [MONDO:patterns/location_top]
synonym: "lung disease" EXACT [MONDO:patterns/location]
synonym: "lung disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lung disorder" EXACT []
synonym: "lung disorders" EXACT [NCIT:C3198]
synonym: "pulmonary disease" EXACT []
synonym: "pulmonary diseases" EXACT [NCIT:C3198]
synonym: "pulmonary disorder" EXACT [NCIT:C3198]
synonym: "pulmonary disorders" EXACT [NCIT:C3198]
xref: DOID:850 {source="MONDO:equivalentTo", source="EFO:0003818"}
xref: EFO:0003818 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J60-J70 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J98.4 {source="DOID:850"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008171 {source="MONDO:equivalentTo", source="EFO:0003818", source="DOID:850"}
xref: NCIT:C3198 {source="MONDO:equivalentTo", source="DOID:850"}
xref: SCTID:196164004 {source="DOID:850"}
xref: SCTID:19829001 {source="MONDO:equivalentTo", source="DOID:850"}
xref: SCTID:266374002 {source="DOID:850"}
xref: UMLS:C0024115 {source="MEDGEN:7399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000270 {source="DOID:850", source="MONDO:Redundant"} ! lower respiratory tract disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0005276
name: dental caries
def: "The decay of a tooth, in which it becomes softened, discolored, and/or porous." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dental caries extending into pulp" EXACT [DOID:216]
synonym: "dental caries of smooth surface" EXACT [DOID:216]
synonym: "dental caries pit and fissure" EXACT [DOID:216]
xref: DOID:216 {source="EFO:0003819", source="MONDO:equivalentTo"}
xref: EFO:0003819 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K02 {source="DOID:216", source="MONDO:equivalentTo"}
xref: ICD10CM:K02.6 {source="DOID:216"}
xref: ICD10CM:K02.9 {source="DOID:216"}
xref: ICD9:521.0 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:521.00 {source="DOID:216", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:521.06 {source="DOID:216"}
xref: ICD9:521.07 {source="DOID:216"}
xref: MEDGEN:8288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003731 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo"}
xref: NCIT:C52593 {source="EFO:0003819", source="DOID:216", source="MONDO:otherHierarchy"}
xref: SCTID:155632007 {source="DOID:216"}
xref: SCTID:196307002 {source="DOID:216"}
xref: SCTID:80967001 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo"}
xref: UMLS:C0011334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8288"}
is_a: MONDO:0002220 {source="DOID:216"} ! tooth hard tissue disease

[Term]
id: MONDO:0005277
name: migraine disorder
def: "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." [NCIT:C89715]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "migraine" EXACT [NCIT:C89715]
synonym: "migraine disorder" EXACT [DOID:6364]
synonym: "migraine headache" EXACT [NCIT:C89715]
synonym: "migraine variant" EXACT [DOID:6364]
synonym: "migraine with or without aura" EXACT [DOID:6364]
xref: DOID:6364 {source="EFO:0003821", source="MONDO:equivalentTo"}
xref: ICD10CM:G40-G47 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G43 {source="DOID:6364"}
xref: ICD10CM:G43.9 {source="DOID:6364"}
xref: ICD10CM:G43.909 {source="DOID:6364"}
xref: ICD9:346 {source="EFO:0003821", source="DOID:6364"}
xref: ICD9:346.9 {source="DOID:6364"}
xref: MEDGEN:57451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008881 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"}
xref: NCIT:C113482 {source="EFO:0003821", source="MONDO:otherHierarchy"}
xref: NCIT:C89715 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"}
xref: SCTID:155046006 {source="DOID:6364"}
xref: SCTID:155048007 {source="DOID:6364"}
xref: SCTID:193028008 {source="EFO:0003821"}
xref: SCTID:193030005 {source="EFO:0003821", source="DOID:6364"}
xref: SCTID:193036004 {source="DOID:6364"}
xref: SCTID:193041007 {source="DOID:6364"}
xref: SCTID:230467008 {source="EFO:0003821"}
xref: SCTID:267699004 {source="DOID:6364"}
xref: SCTID:37796009 {source="EFO:0003821", source="DOID:6364"}
xref: SCTID:75879005 {source="EFO:0003821"}
xref: SCTID:95653008 {source="EFO:0003821"}
xref: UMLS:C0149931 {source="MEDGEN:57451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002602 {source="ISBN-13:978-1-259-64403-0"} ! central nervous system disorder
is_a: MONDO:0017181 {source="MESH:D008881"} ! hypnic headache
is_a: MONDO:0043218 {source="NCIT:C89715"} ! neurovascular disorder
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain

[Term]
id: MONDO:0005278
name: serous adenocarcinoma
def: "An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma." [NCIT:C40101]
subset: otar {source="MONDO:OTAR"}
synonym: "serous adenocarcinoma" EXACT [DOID:3114, NCIT:C40101]
synonym: "serous carcinoma" RELATED [DOID:3114]
synonym: "serous cystadenocarcinoma" RELATED [DOID:3114]
synonym: "serous cystadenocarcinoma, NOS (morphologic abnormality)" RELATED [DOID:3114]
xref: DOID:3114 {source="MONDO:equivalentTo", source="EFO:0003825"}
xref: EFO:0003825 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D018284 {source="DOID:3114", source="EFO:0003825"}
xref: NCIT:C3778 {source="DOID:3114"}
xref: NCIT:C40101 {source="DOID:3114", source="MONDO:equivalentTo", source="EFO:0003825"}
xref: SCTID:189685001 {source="DOID:3114"}
xref: SCTID:90725004 {source="DOID:3114", source="EFO:0003825"}
is_a: MONDO:0004970 {source="DOID:3114/inferred", source="EFO:0003825", source="NCIT:C40101"} ! adenocarcinoma
relationship: excluded_subClassOf MONDO:0005596 {source="DOID:3114", source="https://orcid.org/0000-0001-5208-3432"} ! cystadenocarcinoma

[Term]
id: MONDO:0005279
name: pulmonary embolism
def: "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "embolism, pulmonary" EXACT [NCIT:C50713]
synonym: "pulmonary artery embolism" EXACT [DOID:9477]
synonym: "pulmonary embolism" EXACT [MONDO:ambiguous]
synonym: "pulmonary embolism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pulmonary embolus" EXACT [DOID:9477]
xref: DOID:9477 {source="MONDO:equivalentTo", source="EFO:0003827"}
xref: EFO:0003827 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002204 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I26 {source="DOID:9477"}
xref: ICD10CM:I26-I28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I26.99 {source="DOID:9477"}
xref: ICD9:415.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011655 {source="MONDO:equivalentTo", source="EFO:0003827", source="DOID:9477"}
xref: NCIT:C50713 {source="MONDO:equivalentTo", source="EFO:0003827", source="DOID:9477"}
xref: SCTID:155326007 {source="DOID:9477"}
xref: SCTID:194882001 {source="DOID:9477"}
xref: SCTID:266292008 {source="DOID:9477"}
xref: SCTID:59282003 {source="MONDO:equivalentTo", source="EFO:0003827", source="DOID:9477"}
xref: UMLS:C0034065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11027"}
is_a: MONDO:0000473 {source="DOID:9477"} ! arterial disorder
relationship: disease_has_location UBERON:0002012 {source="EFO:0000784"} ! pulmonary artery
property_value: IAO:0000589 "pulmonary embolism (disease)" xsd:string

[Term]
id: MONDO:0005280
name: prostatitis
def: "An infectious or non-infectious inflammatory process affecting the prostate gland." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of prostate gland" EXACT []
synonym: "prostate gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "prostatitis" EXACT [MONDO:ambiguous]
synonym: "prostatitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:14654 {source="EFO:0003830", source="MONDO:equivalentTo"}
xref: EFO:0003830 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000024 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N41 {source="DOID:14654"}
xref: ICD10CM:N41.9 {source="DOID:14654"}
xref: ICD9:601 {source="DOID:14654"}
xref: ICD9:601.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:601.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:601.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14654"}
xref: MEDGEN:10965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011472 {source="EFO:0003830", source="MONDO:equivalentTo", source="DOID:14654"}
xref: NCIT:C26866 {source="EFO:0003830", source="MONDO:equivalentTo", source="DOID:14654"}
xref: SCTID:155907007 {source="DOID:14654"}
xref: SCTID:155911001 {source="DOID:14654"}
xref: SCTID:197962006 {source="DOID:14654"}
xref: SCTID:197971002 {source="DOID:14654"}
xref: SCTID:266637008 {source="DOID:14654"}
xref: SCTID:9713002 {source="EFO:0003830", source="MONDO:equivalentTo", source="DOID:14654"}
xref: UMLS:C0033581 {source="MEDGEN:10965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003105 {source="DOID:14654", source="MESH:D011472", source="MONDO:Redundant", source="NCIT:C26866/inferred"} ! prostate disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002367 ! prostate gland
relationship: excluded_subClassOf MONDO:0005113 {source="EFO:0003830", source="https://orcid.org/0000-0001-5208-3432"} ! bacterial infectious disease
property_value: IAO:0000589 "prostatitis (disease)" xsd:string

[Term]
id: MONDO:0005281
name: gallbladder disorder
def: "A disease involving the gall bladder." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of gall bladder" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of gall bladder" EXACT []
synonym: "disorder of gall bladder" EXACT [MONDO:patterns/location_top]
synonym: "gall bladder disease" EXACT [MONDO:patterns/location]
synonym: "gall bladder disease or disorder" EXACT [MONDO:patterns/location]
synonym: "Gall bladder disorder" EXACT [NCIT:C34631]
synonym: "gallbladder disorder" EXACT [NCIT:C34631]
xref: DOID:0060262 {source="EFO:0003832", source="MONDO:equivalentTo"}
xref: EFO:0003832 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K80-K87 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K82 {source="MONDO:equivalentTo"}
xref: ICD10CM:K82.9 {source="DOID:0060262"}
xref: ICD9:575.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:575.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060262"}
xref: MEDGEN:8947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005705 {source="EFO:0003832", source="MONDO:equivalentTo", source="DOID:0060262"}
xref: NCIT:C34631 {source="MONDO:equivalentTo", source="DOID:0060262"}
xref: SCTID:155807008 {source="DOID:0060262"}
xref: SCTID:155826000 {source="DOID:0060262"}
xref: SCTID:155829007 {source="DOID:0060262"}
xref: SCTID:266535008 {source="DOID:0060262"}
xref: SCTID:266542008 {source="DOID:0060262"}
xref: SCTID:266543003 {source="DOID:0060262"}
xref: SCTID:39621005 {source="MONDO:equivalentTo", source="DOID:0060262"}
xref: UMLS:C0016977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8947"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002110 ! gallbladder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432", comment="OMIMPS:600803"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI

[Term]
id: MONDO:0005282
name: cutaneous lupus erythematosus
def: "An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease." [NCIT:P378]
subset: gard_rare {source="GARD:6225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lupus erythematosus, cutaneous" RELATED [GARD:0006225]
xref: DOID:0050169 {source="MONDO:equivalentTo", source="EFO:0003834"}
xref: EFO:0003834 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6225 {source="MONDO:GARD"}
xref: MEDGEN:7401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008178 {source="MONDO:equivalentTo", source="EFO:0003834"}
xref: NCIT:C26819 {source="MONDO:equivalentTo", source="EFO:0003834"}
xref: SCTID:7119001 {source="MONDO:equivalentTo", source="EFO:0003834"}
xref: UMLS:C0024137 {source="MEDGEN:7401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004670 {source="DOID:0050169", source="NCIT:C26819"} ! lupus erythematosus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus" xsd:anyURI {source="GARD:0006225"}

[Term]
id: MONDO:0005283
name: retinal disorder
def: "Any disease or disorder of the retina." [NCIT:C62601]
subset: otar {source="MONDO:OTAR"}
synonym: "eye disease of retina" EXACT [MONDO:design_pattern]
synonym: "retina eye disease" EXACT [MONDO:patterns/location]
synonym: "retinopathy" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: DOID:5679 {source="MONDO:equivalentTo", source="EFO:0003839"}
xref: EFO:0003839 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HGNC:8002 {source="EFO:0003839"}
xref: ICD10CM:H30-H36 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H35.9 {source="DOID:5679"}
xref: ICD9:362.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:362.9 {source="MONDO:equivalentTo", source="DOID:5679", source="MONDO:i2s"}
xref: MEDGEN:11209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012164 {source="MONDO:equivalentTo", source="DOID:5679"}
xref: NCIT:C26875 {source="MONDO:equivalentTo", source="DOID:5679"}
xref: NCIT:C62601 {source="MONDO:equivalentTo", source="DOID:5679", source="EFO:0003839"}
xref: SCTID:193430004 {source="DOID:5679"}
xref: SCTID:267715002 {source="DOID:5679"}
xref: SCTID:29555009 {source="MONDO:equivalentTo", source="DOID:5679"}
xref: SCTID:35426003 {source="DOID:5679"}
xref: SCTID:399625000 {source="DOID:5679", source="EFO:0003839"}
xref: UMLS:C0035309 {source="MEDGEN:11209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:5679", source="EFO:0003839", source="MESH:D012164", source="MONDO:Redundant", source="NCIT:C62601/inferred"} ! eye disorder
intersection_of: MONDO:0005328 ! eye disorder
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0005284
name: chronic progressive multiple sclerosis
def: "A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)" [MESH:D020528]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003840 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:140733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020528 {source="EFO:0003840", source="MONDO:equivalentTo"}
xref: SCTID:230373008 {source="EFO:0003840", source="MONDO:equivalentTo"}
xref: UMLS:C0393665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140733"}
is_a: MONDO:0005301 {source="EFO:0003840", source="MESH:D020528"} ! multiple sclerosis

[Term]
id: MONDO:0005285
name: obsolete kidney stone
is_obsolete: true
replaced_by: MONDO:0008171

[Term]
id: MONDO:0005286
name: palatal neoplasm
def: "A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula." [NCIT:C4402]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of palate" EXACT [NCIT:C4402]
synonym: "neoplasm of secondary palate" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the palate" EXACT [NCIT:C4402]
synonym: "palate neoplasm" EXACT [NCIT:C4402]
synonym: "palate tumor" EXACT [NCIT:C4402]
synonym: "palate tumour" EXACT OMO:0003005 []
synonym: "secondary palate neoplasm" EXACT []
synonym: "secondary palate neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "secondary palate tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "secondary palate tumour" EXACT OMO:0003005 []
synonym: "tumor of palate" EXACT [NCIT:C4402]
synonym: "tumor of secondary palate" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the palate" EXACT [NCIT:C4402]
synonym: "tumour of palate" EXACT OMO:0003005 []
synonym: "tumour of secondary palate" EXACT OMO:0003005 []
synonym: "tumour of the palate" EXACT OMO:0003005 []
xref: EFO:0003849 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:14576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010157 {source="MONDO:equivalentTo", source="EFO:0003849"}
xref: NCIT:C4402 {source="MONDO:equivalentTo", source="EFO:0003849"}
xref: SCTID:126805009 {source="MONDO:equivalentTo"}
xref: UMLS:C0030215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14576"}
is_a: MONDO:0005070 {source="EFO:0003849", source="MESH:D010157/inferred", source="MONDO:Redundant", source="NCIT:C4402/inferred"} ! neoplasm
is_a: MONDO:0006858 {source="MESH:D010157/inferred", source="MONDO:Entailed", source="NCIT:C4402/inferred"} ! mouth disorder
is_a: MONDO:0021245 {source="NCIT:C4402"} ! oral cavity neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001716 ! secondary palate

[Term]
id: MONDO:0005287
name: developmental disability
def: "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" [MESH:D002658]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003852 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D002658 {source="EFO:0003852", source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="EFO:0003852"} ! nervous system disorder

[Term]
id: MONDO:0005288
name: intestinal polyp
def: "Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." [MESH:D007417]
subset: otar {source="MONDO:OTAR"}
synonym: "intestinal polyp" EXACT [MONDO:ambiguous]
synonym: "intestinal polyp (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0003855 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0005266 {source="MONDO:otherHierarchy"}
xref: ICD9:569.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007417 {source="MONDO:equivalentTo", source="EFO:0003855"}
xref: SCTID:254588001 {source="MONDO:equivalentTo"}
xref: UMLS:C0021846 {source="MEDGEN:9526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:0003855", source="MESH:D007417"} ! polyp
relationship: disease_has_location UBERON:0000160 {source="EFO:0000784"} ! intestine
property_value: IAO:0000589 "intestinal polyp (disease)" xsd:string

[Term]
id: MONDO:0005289
name: paranasal sinus neoplasm
def: "A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C7488]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "accessory sinus neoplasm" EXACT [NCIT:C7488]
synonym: "accessory sinus tumor" EXACT [NCIT:C7488]
synonym: "accessory sinus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of accessory sinus" EXACT [DOID:1350, NCIT:C7488]
synonym: "neoplasm of paranasal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C7488]
synonym: "neoplasm of the accessory sinus" EXACT [NCIT:C7488]
synonym: "neoplasm of the paranasal sinus" EXACT [NCIT:C7488]
synonym: "paranasal sinus neoplasm" EXACT [MONDO:ambiguous, NCIT:C7488]
synonym: "paranasal sinus neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/location]
synonym: "paranasal sinus neoplasms" EXACT [NCIT:C7488]
synonym: "paranasal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7488]
synonym: "paranasal sinus tumour" EXACT OMO:0003005 []
synonym: "tumor of accessory sinus" EXACT [DOID:1350, NCIT:C7488]
synonym: "tumor of paranasal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C7488]
synonym: "tumor of the accessory sinus" EXACT [NCIT:C7488]
synonym: "tumor of the paranasal sinus" EXACT [NCIT:C7488]
synonym: "tumour of accessory sinus" EXACT OMO:0003005 []
synonym: "tumour of paranasal sinus" EXACT OMO:0003005 []
synonym: "tumour of the accessory sinus" EXACT OMO:0003005 []
synonym: "tumour of the paranasal sinus" EXACT OMO:0003005 []
xref: DOID:1350 {source="MONDO:equivalentTo", source="EFO:0003866"}
xref: EFO:0003866 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0030072 {source="MONDO:otherHierarchy"}
xref: MEDGEN:18296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010255 {source="DOID:1350", source="EFO:0003866"}
xref: NCIT:C7488 {source="DOID:1350", source="NCIT:C7488", source="MONDO:equivalentTo", source="EFO:0003866"}
xref: SCTID:126675008 {source="DOID:1350", source="MONDO:equivalentTo"}
xref: UMLS:C0030470 {source="MEDGEN:18296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001735 {source="DOID:1350", source="MONDO:Redundant", source="NCIT:C7488"} ! paranasal sinus disorder
is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C7488/inferred"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus
relationship: disease_has_location UBERON:0001825 ! paranasal sinus
property_value: IAO:0000589 "paranasal sinus neoplasm (disease)" xsd:string

[Term]
id: MONDO:0005290
name: obsolete rhabdomyolysis
def: "OBSOLETE. A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma." [NCIT:P378]
comment: Reason of obsoletion: is a phenotype and not a disease - MONDO:excludePhenotype. Term to consider: -none
synonym: "rhabdomyolysis" EXACT [MONDO:ambiguous]
synonym: "rhabdomyolysis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0003201 {source="MONDO:otherHierarchy"}
xref: ICD9:728.88 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="EFO:0003867"}
xref: MESH:D012206 {source="MONDO:obsoleteEquivalent", source="EFO:0003867"}
xref: NCIT:C118318 {source="MONDO:obsoleteEquivalent", source="EFO:0003867"}
xref: SCTID:240131006 {source="MONDO:obsoleteEquivalent", source="EFO:0003867"}
xref: SCTID:89010004 {source="EFO:0003867"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI
property_value: IAO:0000589 "rhabdomyolysis (disease)" xsd:string
is_obsolete: true

[Term]
id: MONDO:0005291
name: brain aneurysm
def: "A congenital or acquired aneurysm within the cranium." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "brain aneurysm" EXACT [DOID:10941]
synonym: "intracranial aneurysm" RELATED [DOID:10941]
xref: DOID:10941 {source="EFO:0003870", source="MONDO:equivalentTo"}
xref: EFO:0003870 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:196706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002532 {source="EFO:0003870", source="DOID:10941", source="MONDO:equivalentTo"}
xref: NCIT:C27208 {source="EFO:0003870", source="MONDO:otherHierarchy"}
xref: NCIT:C34458 {source="DOID:10941", source="MONDO:otherHierarchy"}
xref: SCTID:125236003 {source="EFO:0003870"}
xref: SCTID:128609009 {source="EFO:0003870", source="DOID:10941"}
xref: SCTID:277196008 {source="EFO:0003870"}
xref: SCTID:42994005 {source="DOID:10941"}
xref: UMLS:C0751003 {source="MEDGEN:196706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006693 {source="DOID:10941"} ! cerebral arterial disease
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0009830 {source="MONDO:Wikidata"} ! Peripheral neuropathy
relationship: disease_has_location UBERON:0003499 {source="EFO:0000784"} ! brain blood vessel

[Term]
id: MONDO:0005292
name: colitis
def: "Inflammation of the colon." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "colitis" EXACT [MONDO:ambiguous]
synonym: "colitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "colon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of colon" EXACT []
xref: DOID:0060180 {source="EFO:0003872", source="MONDO:equivalentTo"}
xref: EFO:0003872 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002583 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K50-K52 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:K52.9 {source="DOID:0060180"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:40385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003092 {source="EFO:0003872", source="MONDO:equivalentTo", source="DOID:0060180"}
xref: NCIT:C26723 {source="EFO:0003872", source="MONDO:equivalentTo", source="DOID:0060180"}
xref: SCTID:64226004 {source="EFO:0003872", source="MONDO:equivalentTo", source="DOID:0060180"}
xref: UMLS:C0009319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40385"}
is_a: MONDO:0003409 {source="MESH:D003092", source="MONDO:Redundant"} ! colonic disorder
is_a: MONDO:0005265 {source="DOID:0060180"} ! inflammatory bowel disease
intersection_of: MONDO:0000001 {source="EFO:0000784"} ! disease
intersection_of: disease_has_inflammation_site UBERON:0001155 {source="EFO:0000784"} ! colon
property_value: IAO:0000589 "colitis (disease)" xsd:string

[Term]
id: MONDO:0005293
name: flatfoot
def: "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fallen Arch" EXACT [NCIT:C34616]
synonym: "flat Foot" EXACT [NCIT:C34616]
xref: EFO:0003874 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:734 {source="EFO:0003874"}
xref: MEDGEN:42034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005413 {source="EFO:0003874", source="MONDO:equivalentTo"}
xref: NCIT:C34616 {source="EFO:0003874", source="MONDO:equivalentTo"}
xref: SCTID:53226007 {source="EFO:0003874", source="MONDO:equivalentTo"}
xref: UMLS:C0016202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42034"}
is_a: MONDO:0005172 {source="EFO:0003874"} ! skeletal system disorder

[Term]
id: MONDO:0005294
name: peripheral vascular disease
def: "Any disorder affecting blood flow through the veins or arteries outside of the heart." [NCIT:C35136]
subset: otar {source="MONDO:OTAR"}
synonym: "arterial occlusive disease" EXACT [DOID:341]
synonym: "disease, peripheral vascular" EXACT [NCIT:C35136]
synonym: "peripheral vascular disorder" EXACT [NCIT:C35136]
synonym: "vascular disease, peripheral" EXACT [NCIT:C35136]
xref: DOID:341 {source="MONDO:equivalentTo", source="EFO:0003875"}
xref: EFO:0003875 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:443.81 {source="DOID:341"}
xref: MEDGEN:38790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001157 {source="DOID:341"}
xref: MESH:D016481 {source="MONDO:relatedTo", source="DOID:341"}
xref: MESH:D016491 {source="MONDO:equivalentTo", source="EFO:0003875"}
xref: NCIT:C35136 {source="MONDO:equivalentTo"}
xref: SCTID:195624006 {source="DOID:341"}
xref: SCTID:2929001 {source="DOID:341"}
xref: SCTID:400047006 {source="EFO:0003875"}
xref: UMLS:C0085096 {source="MEDGEN:38790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="DOID:341", source="EFO:0003875", source="MESH:D016491", source="NCIT:C35136/inferred"} ! vascular disorder

[Term]
id: MONDO:0005295
name: intermittent vascular claudication
def: "A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate." [MESH:D007383]
subset: otar {source="MONDO:OTAR"}
synonym: "Charcot's syndrome" EXACT [DOID:3669]
synonym: "intermittent claudication" EXACT [DOID:3669]
synonym: "intermittent claudication NOS" RELATED EXCLUDE [DOID:3669]
xref: DOID:3669 {source="EFO:0003876", source="MONDO:equivalentTo"}
xref: EFO:0003876 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I73.9 {source="DOID:3669"}
xref: ICD9:440.21 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007383 {source="EFO:0003876", source="MONDO:equivalentTo", source="DOID:3669"}
xref: SCTID:155430009 {source="DOID:3669"}
xref: SCTID:195312007 {source="DOID:3669"}
xref: SCTID:63491006 {source="EFO:0003876", source="MONDO:equivalentTo", source="DOID:3669"}
xref: UMLS:C0021775 {source="MEDGEN:7115", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002277 {source="DOID:3669", source="MESH:D007383"} ! arteriosclerosis disorder
is_a: MONDO:0005294 {source="EFO:0003876"} ! peripheral vascular disease

[Term]
id: MONDO:0005296
name: sleep apnea syndrome
def: "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep." [https://orcid.org/0000-0002-6601-2165, MESH:D012891]
subset: otar {source="MONDO:OTAR"}
synonym: "apnea syndrome, sleep" RELATED [MESH:D012891]
synonym: "apnea syndromes, sleep" RELATED [MESH:D012891]
synonym: "apnea, sleep" RELATED [MESH:D012891]
synonym: "apneas, sleep" RELATED [MESH:D012891]
synonym: "breathing, sleep-disordered" RELATED [MESH:D012891]
synonym: "breathing-related sleep disorder" BROAD []
synonym: "hypersomnia with periodic respiration" RELATED [MESH:D012891]
synonym: "hypopnea, sleep" RELATED [MESH:D012891]
synonym: "hypopneas, sleep" RELATED [MESH:D012891]
synonym: "mixed central and obstructive sleep apnea" RELATED [MESH:D012891]
synonym: "mixed sleep apnea" RELATED [MESH:D012891]
synonym: "mixed sleep Apneas" RELATED [MESH:D012891]
synonym: "SDB" EXACT ABBREVIATION [NCIT:C148023]
synonym: "sleep apnea" EXACT [MESH:D012891, MONDO:ambiguous]
synonym: "sleep apnea syndrome" EXACT [MESH:D012891]
synonym: "sleep apnea, mixed" RELATED [MESH:D012891]
synonym: "sleep apnea, mixed central and obstructive" RELATED [MESH:D012891]
synonym: "sleep apneas" EXACT [MESH:D012891]
synonym: "sleep apneas, mixed" RELATED [MESH:D012891]
synonym: "sleep disordered breathing" EXACT [MESH:D012891, NCIT:C148023]
synonym: "sleep hypopnea" RELATED [MESH:D012891]
synonym: "sleep hypopneas" RELATED [MESH:D012891]
synonym: "sleep-disordered breathing" EXACT [MESH:D012891, NCIT:C148023]
xref: DOID:0050847 {source="MONDO:equivalentTo", source="EFO:0003877"}
xref: EFO:0003877 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0010535 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G47.3 {source="MONDO:equivalentTo"}
xref: ICD9:780.57 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:11458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012891 {source="MONDO:equivalentTo", source="EFO:0003877"}
xref: NCIT:C148023 {source="MONDO:equivalentTo"}
xref: NCIT:C26884 {source="MONDO:otherHierarchy", source="EFO:0003877"}
xref: SCTID:111489007 {source="MONDO:equivalentTo"}
xref: SCTID:73430006 {source="MONDO:equivalentTo", source="EFO:0003877", source="MONDO:preferredExternal"}
xref: UMLS:C0037315 {source="MEDGEN:11458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="DOID:0050847", source="EFO:0003877", source="ICD10CM:G47.3", source="MESH:D012891/inferred", source="MONDO:Redundant"} ! sleep-wake disorder
is_a: MONDO:0005087 {source="EFO:0003877", source="MESH:D012891/inferred", source="NCIT:C148023/inferred"} ! respiratory system disorder
intersection_of: MONDO:0003406 ! sleep-wake disorder
intersection_of: disease_has_basis_in_disruption_of GO:0007585 ! respiratory gaseous exchange by respiratory system
intersection_of: disease_has_feature HP:0010535 ! Sleep apnea

[Term]
id: MONDO:0005297
name: urethritis
def: "Inflammation of the urethra." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of urethra" EXACT []
synonym: "non-gonococcal urethritis" EXACT [DOID:1343, NCIT:C27079]
synonym: "Nongonococcal urethritis" NARROW [DOID:1343]
synonym: "urethra inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "urethritis" EXACT [MONDO:ambiguous, NCIT:C26904]
synonym: "urethritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1343 {source="MONDO:equivalentTo", source="EFO:0003878"}
xref: EFO:0003878 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0500006 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N34.2 {source="DOID:1343"}
xref: ICD9:099.40 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:597.80 {source="DOID:1343"}
xref: MEDGEN:52934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014526 {source="DOID:1343", source="MONDO:equivalentTo", source="EFO:0003878"}
xref: NCIT:C26904 {source="DOID:1343", source="MONDO:equivalentTo", source="EFO:0003878"}
xref: SCTID:154388003 {source="DOID:1343"}
xref: SCTID:197905005 {source="DOID:1343"}
xref: SCTID:31822004 {source="DOID:1343", source="EFO:0003878"}
xref: SCTID:84619001 {source="MONDO:equivalentTo"}
xref: UMLS:C0041976 {source="MONDO:equivalentTo", source="MEDGEN:52934", source="MONDO:MEDGEN"}
is_a: MONDO:0004184 {source="DOID:1343", source="MESH:D014526", source="MONDO:Redundant", source="NCIT:C26904/inferred"} ! urethral disorder
is_a: MONDO:0005113 {source="EFO:0003878"} ! bacterial infectious disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000057 ! urethra
relationship: disease_has_location UBERON:0000057 {source="EFO:0000784"} ! urethra
property_value: IAO:0000589 "urethritis (disease)" xsd:string

[Term]
id: MONDO:0005298
name: osteoporosis
def: "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." [NCIT:C3298]
subset: gard_rare {source="GARD:11932", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone mineral density variation QTL, osteoporosis" EXACT [OMIM:166710, OMIM:genemap2]
synonym: "fracture, hip, susceptibility to" RELATED [OMIM:166710]
synonym: "osteoporosis, involutional" RELATED [OMIM:166710]
synonym: "osteoporosis, postmenopausal" EXACT [OMIM:166710, OMIM:genemap2]
synonym: "osteoporosis, postmenopausal, susceptibility" EXACT [OMIM:166710, OMIM:genemap2]
synonym: "osteoporosis, susceptibility to" EXACT [OMIM:166710, OMIM:genemap2]
xref: DOID:11476 {source="EFO:0003882", source="MONDO:equivalentTo"}
xref: EFO:0003882 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:11932 {source="MONDO:GARD"}
xref: ICD10CM:M81 {source="MONDO:equivalentTo"}
xref: ICD10CM:M81.0 {source="DOID:11476"}
xref: ICD9:733.0 {source="EFO:0003882", source="DOID:11476"}
xref: ICD9:733.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11476"}
xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010024 {source="EFO:0003882", source="MONDO:equivalentTo", source="DOID:11476"}
xref: MESH:D015663 {source="DOID:11476"}
xref: NCIT:C3298 {source="EFO:0003882", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:11476"}
xref: OMIM:166710 {source="EFO:0003882", source="MONDO:equivalentTo", source="DOID:11476"}
xref: SCTID:156825006 {source="DOID:11476"}
xref: SCTID:203428004 {source="DOID:11476"}
xref: SCTID:203440004 {source="DOID:11476"}
xref: SCTID:64859006 {source="EFO:0003882", source="MONDO:equivalentTo", source="DOID:11476"}
xref: UMLS:C0029456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14535"}
is_a: MONDO:0000837 {source="DOID:11476"} ! bone resorption disease
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
is_a: MONDO:0800486 {source="NCIT:C3298"} ! metabolic bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7006" xsd:anyURI

[Term]
id: MONDO:0005299
name: brain ischemia
def: "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage." [NCIT:C78394]
subset: otar {source="MONDO:OTAR"}
synonym: "brain ischaemic disease" EXACT OMO:0003005 []
synonym: "brain ischemia" EXACT [MONDO:patterns/location]
synonym: "brain ischemic disease" EXACT [MONDO:patterns/location]
synonym: "cerebrovascular ischemia" EXACT [NCIT:C78394]
synonym: "ischaemic disease of brain" EXACT OMO:0003005 []
synonym: "ischaemic encephalopathy" EXACT OMO:0003005 []
synonym: "ischemia cerebrovascular" EXACT [NCIT:C78394]
synonym: "ischemic disease of brain" EXACT [MONDO:design_pattern]
synonym: "ischemic encephalopathy" EXACT [DOID:2316]
xref: DOID:2316 {source="EFO:0003883", source="MONDO:equivalentTo"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:182975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002545 {source="EFO:0003883", source="MONDO:equivalentTo", source="DOID:2316"}
xref: NCIT:C78394 {source="MONDO:equivalentTo"}
xref: SCTID:11890005 {source="DOID:2316"}
xref: SCTID:193049009 {source="DOID:2316"}
xref: SCTID:287731003 {source="EFO:0003883"}
xref: SCTID:389100007 {source="EFO:0003883", source="MONDO:equivalentTo", source="DOID:2316"}
xref: UMLS:C0917798 {source="MEDGEN:182975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005053 {source="DOID:2316", source="EFO:0003883", source="MONDO:Entailed", source="MONDO:Redundant"} ! ischemic disease
is_a: MONDO:0005560 {source="DOID:2316", source="MESH:D002545/inferred", source="MONDO:Redundant"} ! brain disorder
is_a: MONDO:0011057 {source="MESH:D002545", source="NCIT:C78394"} ! cerebrovascular disorder
intersection_of: MONDO:0005053 ! ischemic disease
intersection_of: disease_has_location UBERON:0000955 ! brain
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain

[Term]
id: MONDO:0005300
name: chronic kidney disease
def: "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." [NCIT:C80078]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic kidney disease" EXACT [NCIT:C80078]
synonym: "chronic kidney failure" RELATED EXCLUDE [DOID:784]
synonym: "chronic renal disease" EXACT [DOID:784, NCIT:C80078]
synonym: "chronic renal failure syndrome" NARROW [DOID:784]
synonym: "chronic renal insufficiency" RELATED [NCIT:C80078]
synonym: "CKD" EXACT ABBREVIATION [DOID:784]
synonym: "CKD - chronic kidney disease" EXACT [NCIT:C80078]
synonym: "kidney disease, chronic" EXACT [MONDO:patterns/chronic]
synonym: "renal failure - chronic" EXACT [DOID:784]
xref: DOID:784 {source="EFO:0003884", source="MONDO:equivalentTo"}
xref: EFO:0003884 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N17-N19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:N18.9 {source="MONDO:equivalentTo", source="DOID:784"}
xref: ICD9:585 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:585.6 {source="EFO:0003884", source="DOID:784"}
xref: MEDGEN:473458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007676 {source="EFO:0003884", source="MONDO:equivalentTo", source="DOID:784"}
xref: MESH:D051436 {source="EFO:0003884"}
xref: NANDO:2100008 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100023 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C80078 {source="EFO:0003884", source="MONDO:equivalentTo"}
xref: NCIT:C9438 {source="DOID:784"}
xref: SCTID:155856009 {source="DOID:784"}
xref: SCTID:197654000 {source="DOID:784"}
xref: SCTID:197655004 {source="DOID:784"}
xref: SCTID:197755007 {source="DOID:784"}
xref: SCTID:46177005 {source="EFO:0003884", source="DOID:784"}
xref: SCTID:709044004 {source="MONDO:equivalentTo"}
xref: SCTID:90688005 {source="EFO:0003884", source="DOID:784"}
xref: UMLS:C1561643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473458"}
intersection_of: MONDO:0005240 ! kidney disorder
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0005301
name: multiple sclerosis
def: "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "generalised multiple sclerosis" NARROW OMO:0003005 []
synonym: "generalized multiple sclerosis" NARROW [DOID:2377]
synonym: "insular sclerosis" RELATED [DOID:2377]
xref: DOID:2377 {source="EFO:0003885", source="MONDO:equivalentTo"}
xref: ICD10CM:G35 {source="DOID:2377", source="MONDO:equivalentTo"}
xref: ICD9:340 {source="EFO:0003885", source="DOID:2377"}
xref: MEDGEN:10123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009103 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"}
xref: NANDO:1200023 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100250 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200904 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3243 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"}
xref: Orphanet:802 {source="MONDO:equivalentObsolete"}
xref: SCTID:155023009 {source="DOID:2377"}
xref: SCTID:192928003 {source="DOID:2377"}
xref: SCTID:192930001 {source="DOID:2377"}
xref: SCTID:24700007 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"}
xref: UMLS:C0026769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10123"}
is_a: MONDO:0002562 {source="DOID:2377", source="ICD10CM:G35", source="MESH:D009103/inferred"} ! demyelinating disease
is_a: MONDO:0002977 {source="MESH:D009103/inferred", source="MONDO:Redundant", source="NCIT:C3243"} ! autoimmune disorder of the nervous system
is_a: MONDO:0005560 {source="MESH:D009103/inferred", source="MONDO:Redundant"} ! brain disorder
is_a: MONDO:0006704 {source="MESH:D009103"} ! CNS demyelinating autoimmune disease
is_a: MONDO:0020800 {source="ICD10CM:G35", source="https://orcid.org/0000-0001-5208-3432"} ! demyelinating disease of central nervous system
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0005302
name: attention deficit hyperactivity disorder, inattentive type
def: "A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life." [NCIT:C35092]
synonym: "ADD" EXACT ABBREVIATION [NCIT:C35092]
synonym: "ADHD" EXACT ABBREVIATION [DOID:1094]
synonym: "attention deficit disorder" EXACT [DOID:1094]
synonym: "attention deficit hyperactivity disorder, inattentive/distractible type" EXACT [NCIT:C35092]
synonym: "attention deficit hyperactivity disorder, predominantly inattentive type" EXACT [NCIT:C35092]
synonym: "hyperkinetic disorder" EXACT [DOID:1094]
xref: DOID:1094 {source="MONDO:equivalentTo", source="EFO:0003888"}
xref: ICD9:314.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003888"}
xref: ICD9:314.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1094"}
xref: ICD9:314.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:473060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001289 {source="MONDO:equivalentTo", source="EFO:0003888", source="DOID:1094"}
xref: NCIT:C35092 {source="MONDO:equivalentTo", source="DOID:1094"}
xref: NCIT:C97160 {source="EFO:0003888"}
xref: SCTID:406506008 {source="MONDO:equivalentTo", source="EFO:0003888"}
xref: UMLS:C0339002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473060"}
is_a: MONDO:0007743 {source="NCIT:C35092"} ! attention deficit-hyperactivity disorder
relationship: disease_disrupts NBO:0000455 ! attention behavior
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000495 {source="MESH:D001289", source="https://orcid.org/0000-0001-5208-3432"} ! oppositional defiant disorder
relationship: excluded_subClassOf MONDO:0000592 {source="DOID:1094", source="https://orcid.org/0000-0001-5208-3432"} ! specific developmental disorder

[Term]
id: MONDO:0005303
name: drug dependence
def: "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "chemical dependence" EXACT [NCIT:C3894]
xref: DOID:9974 {source="MONDO:equivalentTo", source="EFO:0003890"}
xref: EFO:0003890 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:304 {source="EFO:0003890"}
xref: ICD9:304.6 {source="DOID:9974"}
xref: ICD9:304.60 {source="DOID:9974", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:304.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:307144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019966 {source="EFO:0003890"}
xref: NCIT:C3894 {source="MONDO:equivalentTo", source="EFO:0003890"}
xref: SCTID:191816009 {source="MONDO:equivalentTo", source="EFO:0003890"}
xref: SCTID:191859004 {source="DOID:9974"}
xref: SCTID:191860009 {source="DOID:9974"}
xref: SCTID:191864000 {source="DOID:9974"}
xref: SCTID:268644006 {source="DOID:9974"}
xref: UMLS:C1510472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307144"}
is_a: MONDO:0004938 {source="DOID:9974", source="NCIT:C3894"} ! substance dependence
relationship: excluded_subClassOf MONDO:0005084 {source="EFO:0003890", source="https://orcid.org/0000-0001-5208-3432"} ! mental disorder
relationship: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0005304
name: biliary tract neoplasm
def: "A neoplasm that involves the biliary tract." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "biliary tract neoplasm" EXACT [MONDO:ambiguous]
synonym: "biliary tract neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "biliary tree neoplasm" EXACT []
synonym: "biliary tree neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "biliary tree tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "biliary tree tumour" EXACT OMO:0003005 []
synonym: "extrahepatic bile duct neoplasm" RELATED EXCLUDE [DOID:0050625]
synonym: "neoplasm of biliary tree" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of extrahepatic bile ducts" EXACT [DOID:0050625]
synonym: "tumor of biliary tree" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the extrahepatic bile duct" RELATED EXCLUDE [DOID:0050625]
synonym: "tumour of biliary tree" EXACT OMO:0003005 []
synonym: "tumour of the extrahepatic bile duct" RELATED OMO:0003005 []
xref: DOID:0050625 {source="EFO:0003891", source="MONDO:equivalentTo"}
xref: EFO:0003891 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100574 {source="MONDO:otherHierarchy"}
xref: MEDGEN:14118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001661 {source="EFO:0003891"}
xref: NCIT:C12678 {source="ONCOTREE:BILIARYTRACT"}
xref: NCIT:C4441 {source="DOID:0050625"}
xref: ONCOTREE:BILIARYTRACT {source="MONDO:equivalentTo"}
xref: SCTID:126853008 {source="MONDO:equivalentTo"}
xref: SCTID:126855001 {source="DOID:0050625"}
xref: UMLS:C0005426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14118"}
is_a: MONDO:0002514 {source="DOID:0050625", source="MONDO:Redundant", source="MONDO:indirect"} ! hepatobiliary neoplasm
is_a: MONDO:0005154 {source="EFO:0003891/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! liver disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001173 ! biliary tree
relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3673" xsd:anyURI
property_value: IAO:0000589 "biliary tract neoplasm (disease)" xsd:string

[Term]
id: MONDO:0005305
name: obsolete epistaxis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/924" xsd:anyURI
is_obsolete: true
consider: HP:0000421

[Term]
id: MONDO:0005306
name: ankylosing spondylitis
def: "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ankylosing spondylarthritis" EXACT [Orphanet:825]
synonym: "Bekhterev syndrome" EXACT [DOID:7147, Orphanet:825]
synonym: "Bekhterev's disease" EXACT [DOID:7147]
synonym: "Marie-Strumpell disease" EXACT [DOID:7147]
xref: DOID:7147 {source="EFO:0003898", source="MONDO:equivalentTo"}
xref: EFO:0003898 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M45 {source="DOID:7147", source="MONDO:equivalentTo"}
xref: ICD9:720.0 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:11561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013167 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo"}
xref: NANDO:1200870 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84564 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo"}
xref: Orphanet:825 {source="DOID:7147", source="MONDO:equivalentObsolete"}
xref: SCTID:156619005 {source="DOID:7147"}
xref: SCTID:9631008 {source="DOID:7147", source="EFO:0003898", source="MONDO:equivalentTo"}
xref: UMLS:C0038013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11561"}
is_a: MONDO:0003937 {source="MESH:D013167/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! spondylitis
is_a: MONDO:0005095 {source="EFO:0003898", source="MONDO:Redundant"} ! spondyloarthropathy
is_a: MONDO:0005554 {source="EFO:0003898/inferred", source="MONDO:Redundant", source="NCIT:C84564"} ! rheumatic disorder
is_a: MONDO:0005578 {source="MESH:D013167/inferred", source="MONDO:Entailed", source="NCIT:C84564"} ! arthritic joint disease
is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C84564"} ! autoimmune disease
relationship: disease_has_inflammation_site UBERON:0001468 ! intervertebral joint

[Term]
id: MONDO:0005307
name: obsolete contracture
def: "OBSOLETE. Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." [MESH:D003286]
comment: Reason of obsoletion: is a phenotype and not a disease - MONDO:excludePhenotype. Term to consider: -none
synonym: "muscle contracture" NARROW [https://orcid.org/0000-0002-8169-9049, OMOP:4208264, SCTID:55033002]
xref: MESH:D003286 {source="MONDO:obsoleteEquivalent", source="EFO:0003899"}
xref: SCTID:57048009 {source="EFO:0003899"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0005308
name: ciliopathy
def: "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function." [http://en.wikipedia.org/wiki/Ciliopathy]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:21544", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:363250"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ciliopathies" RELATED [GTR:AN0966173]
synonym: "ciliopathy" EXACT CLINGEN_LABEL []
xref: DOID:0060340 {source="MONDO:equivalentTo", source="EFO:0003900"}
xref: EFO:0003900 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21544 {source="MONDO:GARD"}
xref: GTR:AN0966173
xref: MEDGEN:908923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002925 {source="EFO:0003900"}
xref: Orphanet:363250 {source="MONDO:equivalentTo"}
xref: SCTID:86204009 {source="EFO:0003900"}
xref: UMLS:C4277690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908923"}
is_a: MONDO:0003847 {source="DOID:0060340", source="EFO:0003900"} ! hereditary disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005929 ! cilium

[Term]
id: MONDO:0005309
name: spinal fracture
def: "Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bone fracture of vertebral column" EXACT [MONDO:design_pattern]
synonym: "vertebral column bone fracture" EXACT [MONDO:patterns/location]
xref: EFO:0003902 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D016103 {source="MONDO:equivalentTo", source="EFO:0003902"}
xref: NCIT:C80516 {source="MONDO:otherHierarchy", source="EFO:0003902"}
xref: SCTID:50448004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005315 {source="EFO:0003902", source="MESH:D016103", source="MONDO:Redundant"} ! bone fracture
intersection_of: MONDO:0005315 ! bone fracture
intersection_of: disease_has_location UBERON:0001130 ! vertebral column

[Term]
id: MONDO:0005310
name: atrial flutter
def: "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)" [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "atrial flutter" EXACT [MONDO:ambiguous]
synonym: "atrial flutter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0003911 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0004749 {source="MONDO:otherHierarchy"}
xref: ICD9:427.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003911"}
xref: MEDGEN:13955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001282 {source="MONDO:equivalentTo", source="EFO:0003911"}
xref: NANDO:2100050 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200218 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200225 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C51224 {source="MONDO:equivalentTo", source="EFO:0003911"}
xref: SCTID:5370000 {source="MONDO:equivalentTo", source="EFO:0003911"}
xref: UMLS:C0004239 {source="MEDGEN:13955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005479 {source="EFO:0003911"} ! atrial tachycardia
is_a: MONDO:0007263 {source="EFO:0003911/inferred", source="MONDO:Redundant", source="NCIT:C51224"} ! cardiac rhythm disease
relationship: disease_has_location UBERON:0002081 {source="EFO:0000784"} ! cardiac atrium
property_value: IAO:0000589 "atrial flutter (disease)" xsd:string

[Term]
id: MONDO:0005311
name: atherosclerosis
def: "Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen." [NCIT:C35768]
comment: Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here
subset: otar {source="MONDO:OTAR"}
synonym: "atherosclerosis artery" RELATED []
synonym: "atherosclerosis of artery" EXACT []
synonym: "atherosclerotic cardiovascular disease" EXACT [NCIT:C35771]
xref: DOID:1936 {source="MONDO:equivalentTo", source="EFO:0003914"}
xref: EFO:0003914 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I25.1 {source="DOID:1936"}
xref: ICD10CM:I70 {source="MONDO:equivalentTo", source="DOID:1936"}
xref: ICD9:440 {source="EFO:0003914", source="DOID:1936"}
xref: ICD9:440.8
xref: MEDGEN:13948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050197 {source="MONDO:equivalentTo", source="EFO:0003914", source="DOID:1936"}
xref: NCIT:C35768 {source="MONDO:equivalentTo", source="EFO:0003914", source="DOID:1936"}
xref: NCIT:C35771 {source="MONDO:equivalentTo", source="DOID:1936"}
xref: SCTID:155382007 {source="DOID:1936"}
xref: SCTID:155414001 {source="DOID:1936"}
xref: SCTID:194848007 {source="DOID:1936"}
xref: SCTID:195251000 {source="DOID:1936"}
xref: SCTID:266318005 {source="DOID:1936"}
xref: SCTID:38716007 {source="EFO:0003914", source="DOID:1936"}
xref: SCTID:441574008 {source="MONDO:equivalentTo"}
xref: UMLS:C0004153 {source="MEDGEN:13948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="DOID:1936/inferred", source="NCIT:C35768/inferred"} ! arterial disorder
is_a: MONDO:0002277 {source="DOID:1936", source="DOID:1936/inferred", source="EFO:0003914", source="MESH:D050197", source="NCIT:C35768", source="NCIT:C35771"} ! arteriosclerosis disorder
relationship: disease_has_location UBERON:0001637 {source="EFO:0000784"} ! artery

[Term]
id: MONDO:0005312
name: pouchitis
def: "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative)." [MESH:D019449]
subset: gard_rare {source="GARD:20510", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217067"}
subset: orphanet_rare {source="Orphanet:217067"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0003921 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20510 {source="MONDO:GARD"}
xref: ICD10CM:K91.850 {source="MONDO:equivalentTo"}
xref: ICD9:569.71 {source="EFO:0003921"}
xref: MEDGEN:138232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019449 {source="MONDO:equivalentTo", source="EFO:0003921"}
xref: Orphanet:217067 {source="MONDO:equivalentTo"}
xref: UMLS:C0376620 {source="MEDGEN:138232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="MESH:D019449/inferred"} ! intestinal disorder
relationship: disease_has_location UBERON:0002116 {source="EFO:0000784"} ! ileum

[Term]
id: MONDO:0005313
name: necrotizing enterocolitis
def: "Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death." [https://www.chla.org/necrotizing-enterocolitis]
subset: gard_rare {source="GARD:9767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391673"}
subset: orphanet_rare {source="Orphanet:391673"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEC" EXACT ABBREVIATION [NCIT:C84915]
synonym: "necrotizing enterocolitis" EXACT [NCIT:C84915]
synonym: "necrotizing enterocolitis in fetus or newborn" NARROW [NCIT:C84915]
synonym: "necrotizing enterocolitis in foetus or newborn" NARROW OMO:0003005 []
xref: EFO:0003928 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9767 {source="MONDO:GARD"}
xref: icd11.foundation:141267925 {source="MONDO:equivalentTo", source="Orphanet:391673", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:777.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:105440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020345 {source="MONDO:equivalentTo", source="EFO:0003928"}
xref: NCIT:C84915 {source="MONDO:equivalentTo", source="EFO:0003928"}
xref: Orphanet:391673 {source="MONDO:equivalentTo"}
xref: SCTID:2707005 {source="MONDO:equivalentTo"}
xref: UMLS:C0520459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105440"}
is_a: MONDO:0005020 {source="EFO:0003928", source="MESH:D020345/inferred", source="MONDO:Redundant", source="NCIT:C84915/inferred"} ! intestinal disorder
is_a: MONDO:0009172 {source="EFO:0003928", source="MESH:D020345", source="NCIT:C84915"} ! enterocolitis
relationship: disease_has_location UBERON:0000160 {source="EFO:0000784"} ! intestine

[Term]
id: MONDO:0005314
name: relapsing-remitting multiple sclerosis
def: "The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" [MESH:D020529]
subset: otar {source="MONDO:OTAR"}
synonym: "Relapsing-remitting MS" EXACT [DOID:2378]
synonym: "RRMS" EXACT ABBREVIATION [DOID:2378]
xref: DOID:2378 {source="EFO:0003929", source="MONDO:equivalentTo"}
xref: EFO:0003929 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:155669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020529 {source="EFO:0003929", source="DOID:2378", source="MONDO:equivalentTo"}
xref: NANDO:1200024 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201319 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C165675 {source="MONDO:equivalentTo"}
xref: SCTID:230372003 {source="EFO:0003929"}
xref: SCTID:426373005 {source="EFO:0003929", source="DOID:2378", source="MONDO:equivalentTo"}
xref: UMLS:C0751967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155669"}
is_a: MONDO:0005301 {source="DOID:2378", source="EFO:0003929", source="MESH:D020529"} ! multiple sclerosis

[Term]
id: MONDO:0005315
name: bone fracture
def: "Breaks in bones." [MESH:D050723]
subset: otar {source="MONDO:OTAR"}
subset: other_hierarchy
synonym: "fracture" EXACT [NCIT:C3046]
synonym: "fracture of bone" EXACT [NCIT:C3046]
synonym: "fracture(s)" EXACT [NCIT:C3046]
xref: EFO:0003931 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M97-M97 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D050723 {source="EFO:0003931", source="MONDO:equivalentTo"}
xref: NCIT:C3046 {source="MONDO:equivalentTo"}
xref: SCTID:125605004 {source="MONDO:equivalentTo"}
is_a: MONDO:0021178 {source="MESH:D050723", source="NCIT:C3046/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! injury
relationship: excluded_subClassOf MONDO:0005381 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder

[Term]
id: MONDO:0005316
name: bacterial vaginosis
def: "Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "BV" BROAD ABBREVIATION [NCIT:C116973]
xref: DOID:3385 {source="MONDO:equivalentTo", source="EFO:0003932"}
xref: EFO:0003932 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:43118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016585 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932"}
xref: NCIT:C116973 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932"}
xref: SCTID:155981006 {source="DOID:3385"}
xref: SCTID:198221007 {source="DOID:3385"}
xref: SCTID:237092002 {source="DOID:3385"}
xref: SCTID:266655004 {source="DOID:3385"}
xref: SCTID:419760006 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932"}
xref: SCTID:85569008 {source="DOID:3385"}
xref: UMLS:C0085166 {source="MEDGEN:43118", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002234 {source="DOID:3385", source="MESH:D016585", source="NCIT:C116973/inferred"} ! vaginitis
is_a: MONDO:0005113 {source="EFO:0003932", source="MESH:D016585", source="MONDO:Redundant"} ! bacterial infectious disease
relationship: disease_has_infectious_agent NCBITaxon:2702 {source="MONDO:Wikidata"} ! Gardnerella vaginalis
relationship: disease_has_location UBERON:0000996 {source="EFO:0000784"} ! vagina

[Term]
id: MONDO:0005317
name: obsolete fatty liver
is_obsolete: true
replaced_by: MONDO:0004790

[Term]
id: MONDO:0005318
name: canker sore
def: "A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology." [NCIT:C62546]
subset: otar {source="MONDO:OTAR"}
synonym: "aphthous stomatitis" RELATED [NCIT:C62546]
synonym: "aphthous ulcer" EXACT [NCIT:C62546]
synonym: "canker sore" EXACT [NCIT:C62546]
xref: EFO:0003938 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0032154 {source="MONDO:otherHierarchy"}
xref: MEDGEN:445425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013281 {source="MONDO:equivalentTo", source="EFO:0003938"}
xref: NCIT:C62546 {source="MONDO:equivalentTo", source="EFO:0003938"}
xref: SCTID:196535004 {source="EFO:0003938"}
xref: SCTID:427617000 {source="MONDO:equivalentTo"}
xref: UMLS:C2937365 {source="MEDGEN:445425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004842 {source="MESH:D013281"} ! stomatitis
relationship: disease_has_location UBERON:0003343 {source="EFO:0000784"} ! mucosa of oral region

[Term]
id: MONDO:0005319
name: humerus fracture
def: "A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." [EFO:0003943]
subset: otar {source="MONDO:OTAR"}
subset: other_hierarchy
synonym: "fracture, humeral" EXACT [MESH:D006810]
synonym: "fractures, humeral" EXACT [MESH:D006810]
synonym: "humeral fracture" EXACT [MESH:D006810]
xref: EFO:0003943 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D006810 {source="MONDO:equivalentTo", source="EFO:0003943"}
xref: NCIT:C26795 {source="MONDO:otherHierarchy", source="EFO:0003943"}
xref: SCTID:66308002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005315 {source="EFO:0003943", source="MESH:D006810"} ! bone fracture
relationship: disease_has_location UBERON:0000976 {source="EFO:0000784"} ! humerus

[Term]
id: MONDO:0005320
name: tibia fracture
def: "Traumatic or pathological injury to the tibia in which the continuity of the bone is broken." [EFO:0003944]
subset: otar {source="MONDO:OTAR"}
subset: other_hierarchy
synonym: "bone fracture of tibia" EXACT [MONDO:design_pattern]
synonym: "tibia bone fracture" EXACT [MONDO:patterns/location]
xref: EFO:0003944 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D013978 {source="MONDO:equivalentTo", source="EFO:0003944"}
xref: NCIT:C99083 {source="MONDO:otherHierarchy", source="EFO:0003944"}
xref: SCTID:31978002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005315 {source="EFO:0003944", source="MESH:D013978", source="MONDO:Redundant"} ! bone fracture
intersection_of: MONDO:0005315 ! bone fracture
intersection_of: disease_has_location UBERON:0000979 ! tibia
relationship: disease_has_location UBERON:0000979 {source="EFO:0000784"} ! tibia

[Term]
id: MONDO:0005321
name: Fuchs' endothelial dystrophy
def: "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." [Orphanet:98974]
subset: gard_rare {source="GARD:10018", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98974"}
subset: orphanet_rare {source="Orphanet:98974"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy, Fuchs endothelial" EXACT [MONDO:0000164]
synonym: "Endoepithelial corneal dystrophy" EXACT [Orphanet:98974]
synonym: "FCED" EXACT ABBREVIATION [DOID:11555]
synonym: "FECD" EXACT ABBREVIATION [Orphanet:98974]
synonym: "Fuchs endothelial corneal dystrophy" RELATED [Orphanet:98974]
synonym: "Fuchs endothelial dystrophy" EXACT [NCIT:C84721]
synonym: "Fuchs' corneal dystrophy" EXACT [DOID:11555]
synonym: "Fuchs' endothelial corneal dystrophy" EXACT [DOID:11555]
synonym: "late hereditary endothelial dystrophy" EXACT [Orphanet:98974]
xref: DOID:11555 {source="MONDO:equivalentTo", source="EFO:0003946"}
xref: GARD:10018 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98974/inclusion", source="Orphanet:98974", source="Orphanet:98974/ntbt"}
xref: ICD10CM:H18.51 {source="DOID:11555"}
xref: MEDGEN:4800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005642 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"}
xref: NCIT:C84721 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"}
xref: OMIMPS:136800 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="DOID:11555", source="MONDO:equivalentTo"}
xref: SCTID:16949007 {source="DOID:11555"}
xref: SCTID:193839007 {source="DOID:11555", source="MONDO:equivalentTo", source="EFO:0003946"}
xref: SCTID:393581005 {source="DOID:11555"}
xref: UMLS:C0016781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4800"}
is_a: MONDO:0000766 {source="DOID:11555"} ! corneal endothelial dystrophy
is_a: MONDO:0020214 {source="Orphanet:98974"} ! posterior corneal dystrophy
relationship: disease_has_location UBERON:0000964 {source="EFO:0000784"} ! cornea
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:136800"} ! inherited

[Term]
id: MONDO:0005322
name: ulna fracture
def: "Fractures of the larger bone of the forearm." [MESH:D014458]
subset: otar {source="MONDO:OTAR"}
synonym: "bone fracture of ulna" EXACT [MONDO:design_pattern]
synonym: "ulna bone fracture" EXACT [MONDO:patterns/location]
xref: EFO:0003950 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D014458 {source="EFO:0003950", source="MONDO:equivalentTo"}
xref: SCTID:54556006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005315 {source="EFO:0003950", source="MESH:D014458", source="MONDO:Redundant"} ! bone fracture
intersection_of: MONDO:0005315 ! bone fracture
intersection_of: disease_has_location UBERON:0001424 ! ulna

[Term]
id: MONDO:0005323
name: bacterial sexually transmitted disease
def: "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." [https://orcid.org/0000-0002-6601-2165, MESH:D015231]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003955 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:20728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015231 {source="MONDO:equivalentTo", source="EFO:0003955"}
xref: UMLS:C0036917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20728"}
is_a: MONDO:0005113 {source="EFO:0003955", source="MESH:D015231", source="MONDO:Entailed", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0021681 {source="MESH:D015231", source="MONDO:Redundant"} ! sexually transmitted disease
intersection_of: MONDO:0021681 ! sexually transmitted disease
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria

[Term]
id: MONDO:0005324
name: seasonal allergic rhinitis
def: "Allergic rhinitis caused by outdoor allergens." [NCIT:C92188]
subset: otar {source="MONDO:OTAR"}
synonym: "hay fever" EXACT [NCIT:C92188]
synonym: "seasonal allergic rhinitis" EXACT [NCIT:C92188]
xref: EFO:0003956 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:42335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006255 {source="MONDO:equivalentTo", source="EFO:0003956"}
xref: NCIT:C92188 {source="MONDO:equivalentTo", source="EFO:0003956"}
xref: SCTID:367498001 {source="MONDO:equivalentTo", source="EFO:0003956"}
xref: UMLS:C0018621 {source="MEDGEN:42335", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011786 {source="EFO:0003956", source="NCIT:C92188"} ! allergic rhinitis

[Term]
id: MONDO:0005325
name: radius fracture
def: "Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." [EFO:0003957]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003957 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D011885 {source="MONDO:equivalentTo", source="EFO:0003957"}
xref: NCIT:C99039 {source="MONDO:otherHierarchy", source="EFO:0003957"}
xref: SCTID:12676007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005315 {source="EFO:0003957", source="MESH:D011885"} ! bone fracture

[Term]
id: MONDO:0005326
name: sunburn
def: "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003958 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L55 {source="MONDO:equivalentTo"}
xref: ICD9:692.71 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003958"}
xref: MEDGEN:1789170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013471 {source="MONDO:equivalentTo", source="EFO:0003958"}
xref: NCIT:C3395 {source="MONDO:otherHierarchy", source="EFO:0003958"}
xref: SCTID:403194002 {source="MONDO:equivalentTo"}
xref: UMLS:C2136733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1789170"}
is_a: MONDO:0005093 {source="EFO:0003958", source="MESH:D013471/inferred"} ! skin disorder

[Term]
id: MONDO:0005327
name: hip fracture
def: "Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0003964 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D006620 {source="EFO:0003964", source="MONDO:equivalentTo"}
xref: NCIT:C26794 {source="EFO:0003964", source="MONDO:otherHierarchy"}
xref: SCTID:263225007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005315 {source="EFO:0003964", source="MESH:D006620/inferred"} ! bone fracture
relationship: disease_has_location UBERON:0000981 {source="EFO:0000784"} ! femur

[Term]
id: MONDO:0005328
name: eye disorder
def: "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." [NCIT:C26767]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of eye" EXACT [MONDO:patterns/location_top]
synonym: "disease of eyeball" RELATED []
synonym: "disease of eyeball of camera-type eye" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of eyeball of camera-type eye" EXACT []
synonym: "disorder of eye" EXACT [MONDO:patterns/location_top]
synonym: "disorder of eye proper" RELATED []
synonym: "disorder of eyeball" RELATED []
synonym: "disorder of eyeball of camera-type eye" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of globe" RELATED []
synonym: "eye disease" EXACT [MONDO:patterns/location, NCIT:C26767]
synonym: "eye disorder" EXACT [NCIT:C26767]
synonym: "eyeball of camera-type eye disease" EXACT [MONDO:design_pattern]
synonym: "eyeball of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "globe disease" EXACT [MONDO:0001524]
xref: DOID:1242 {source="MONDO:equivalentTo"}
xref: DOID:5614 {source="MONDO:equivalentTo", source="EFO:0003966", source="MONDO:preferredExternal"}
xref: EFO:0003966 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H00-H59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H43-H44 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:H44 {source="DOID:5614"}
xref: ICD10CM:H44.39 {source="DOID:1242"}
xref: ICD10CM:H44.9 {source="DOID:5614"}
xref: ICD10CM:H55-H57 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:360 {source="DOID:5614"}
xref: ICD9:360.29 {source="DOID:1242"}
xref: ICD9:360.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:360.9 {source="DOID:5614", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:379.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:379.90 {source="DOID:5614", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1370071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005128 {source="DOID:5614", source="MONDO:equivalentTo"}
xref: NCIT:C26767 {source="DOID:5614", source="MONDO:equivalentTo"}
xref: SCTID:111509007 {source="DOID:5614"}
xref: SCTID:155101007 {source="DOID:5614"}
xref: SCTID:155198005 {source="DOID:5614"}
xref: SCTID:193265001 {source="DOID:5614"}
xref: SCTID:193266000 {source="DOID:5614"}
xref: SCTID:193316008 {source="DOID:5614"}
xref: SCTID:194183009 {source="DOID:5614"}
xref: SCTID:194638007 {source="DOID:1242"}
xref: SCTID:264555006 {source="DOID:5614"}
xref: SCTID:366261005 {source="DOID:5614"}
xref: SCTID:371405004 {source="DOID:5614", source="MONDO:equivalentTo"}
xref: SCTID:371409005 {source="DOID:5614"}
xref: SCTID:79517001 {source="DOID:5614"}
xref: UMLS:C4316870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1370071"}
is_a: MONDO:0002022 {source="DOID:5614", source="MONDO:Redundant"} ! disorder of orbital region
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye
relationship: disease_has_location UBERON:0000019 {source="NCIT:C26767"} ! camera-type eye
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0005329
name: obsolete vascular sarcoma
is_obsolete: true
replaced_by: MONDO:0016982

[Term]
id: MONDO:0005330
name: obsolete angiosarcoma
is_obsolete: true
replaced_by: MONDO:0016982

[Term]
id: MONDO:0005331
name: obsolete acrocephalosyndactylia
is_obsolete: true
replaced_by: MONDO:0019796

[Term]
id: MONDO:0005332
name: obsolete MONDO:0005332
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006238

[Term]
id: MONDO:0005333
name: hyperthyroxinemia
def: "Abnormally elevated thyroxine level in the blood." [EFO:0004127]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2855 {source="EFO:0004127", source="MONDO:equivalentTo"}
xref: EFO:0004127 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HGNC:399 {source="EFO:0004127"}
xref: MEDGEN:6973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006981 {source="EFO:0004127", source="MONDO:equivalentTo", source="DOID:2855"}
xref: UMLS:C0020551 {source="MEDGEN:6973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="DOID:2855", source="MESH:D006981"} ! thyroid gland disorder

[Term]
id: MONDO:0005334
name: hereditary nephritis
def: "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane." [EFO:0004128]
synonym: "familial nephritis" RELATED [MESH:D009394]
synonym: "hereditary nephritis" EXACT [MESH:D009394, MONDO:patterns/hereditary]
synonym: "nephritis, familial" RELATED [MESH:D009394]
xref: MEDGEN:10305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009394 {source="MONDO:equivalentTo", source="EFO:0004128"}
xref: SCTID:399340005 {source="MONDO:equivalentTo"}
xref: UMLS:C0027706 {source="MEDGEN:10305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001166 {source="MESH:D009394", source="MONDO:Entailed", source="MONDO:Redundant"} ! nephritis
is_a: MONDO:0005240 {source="EFO:0004128", source="MESH:D009394/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! kidney disorder
intersection_of: MONDO:0001166 ! nephritis
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0005335
name: colorectal neoplasm
alt_id: MONDO:0021236
def: "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C2956]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal neoplasm" EXACT [NCIT:C2956]
synonym: "colorectal tumor" EXACT [NCIT:C2956]
synonym: "colorectal tumour" EXACT OMO:0003005 []
synonym: "colorectum neoplasm" EXACT []
synonym: "colorectum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "colorectum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "colorectum tumour" EXACT OMO:0003005 []
synonym: "large bowel neoplasm" EXACT [NCIT:C2956]
synonym: "large bowel tumor" EXACT [NCIT:C2956]
synonym: "large bowel tumour" EXACT OMO:0003005 []
synonym: "large intestinal neoplasm" EXACT [NCIT:C2956]
synonym: "large intestine neoplasm" EXACT [NCIT:C2956]
synonym: "large intestine tumor" EXACT [NCIT:C2956]
synonym: "large intestine tumour" EXACT OMO:0003005 []
synonym: "neoplasm of colorectum" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of large bowel" EXACT [NCIT:C2956]
synonym: "neoplasm of the large bowel" EXACT [NCIT:C2956]
synonym: "tumor of colorectum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of large bowel" EXACT [NCIT:C2956]
synonym: "tumor of the large bowel" EXACT [NCIT:C2956]
synonym: "tumour of colorectum" EXACT OMO:0003005 []
synonym: "tumour of large bowel" EXACT OMO:0003005 []
synonym: "tumour of the large bowel" EXACT OMO:0003005 []
xref: EFO:0004142 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:3171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015179 {source="MONDO:equivalentTo", source="EFO:0004142"}
xref: NCIT:C2956 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0004142"}
xref: UMLS:C0009404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3171"}
is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C2956"} ! intestinal neoplasm
intersection_of: MONDO:0005070 {source="EFO:0004142"} ! neoplasm
intersection_of: disease_has_location UBERON:0012652 {source="EFO:0004142"} ! colorectum

[Term]
id: MONDO:0005336
name: myopathy
def: "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." [Wikipedia:Myopathy]
comment: Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:423 {source="EFO:0004145", source="MONDO:equivalentTo"}
xref: EFO:0004145 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G72.9 {source="DOID:423"}
xref: ICD10CM:M60-M63 {source="DOID:423"}
xref: ICD10CM:M62.9 {source="DOID:423"}
xref: ICD9:359.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:359.9 {source="DOID:423", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:728.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009135 {source="DOID:423"}
xref: NCIT:C101216 {source="EFO:0004145", source="DOID:423", source="MONDO:equivalentTo"}
xref: SCTID:129565002 {source="DOID:423", source="MONDO:equivalentTo"}
xref: SCTID:155094005 {source="DOID:423"}
xref: SCTID:155099000 {source="DOID:423"}
xref: SCTID:203833006 {source="DOID:423"}
xref: SCTID:203845002 {source="DOID:423"}
xref: SCTID:267711006 {source="DOID:423"}
xref: SCTID:267714003 {source="DOID:423"}
xref: SCTID:268103006 {source="DOID:423"}
xref: SCTID:52794005 {source="DOID:423"}
xref: SCTID:75047002 {source="DOID:423", source="MONDO:relatedTo"}
xref: UMLS:C0026848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10135"}
is_a: MONDO:0020120 {source="DOID:423", source="MONDO:Entailed", source="MONDO:Redundant"} ! skeletal muscle disorder
intersection_of: MONDO:0003939 ! muscle tissue disorder
intersection_of: disease_has_basis_in_dysfunction_of GO:0043292 ! contractile muscle fiber
relationship: disease_has_feature HP:0003198 ! Myopathy

[Term]
id: MONDO:0005337
name: obsolete neuropathy
is_obsolete: true
replaced_by: MONDO:0005244

[Term]
id: MONDO:0005338
name: open-angle glaucoma
def: "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "glaucoma simplex" EXACT [DOID:1067]
synonym: "glaucoma, primary open angle" EXACT [MONDO:Lexical, OMIM:137760]
synonym: "open angle glaucoma" EXACT [DOID:1067, NCIT:C34641]
synonym: "pigmentary glaucoma" EXACT [DOID:1067, ICD9CM:365.13]
synonym: "POAG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:137760]
synonym: "primary open angle glaucoma" EXACT [OMIM:137760]
synonym: "wide-angle glaucoma" EXACT [DOID:1067]
xref: DOID:1067 {source="EFO:0004190", source="MONDO:equivalentTo"}
xref: EFO:0004190 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H40.1 {source="DOID:1067"}
xref: ICD10CM:H40.10 {source="DOID:1067"}
xref: ICD10CM:H40.13 {source="DOID:1067"}
xref: ICD9:365.1 {source="DOID:1067", source="EFO:0004190"}
xref: ICD9:365.10 {source="DOID:1067", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:365.13 {source="DOID:1067", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005902 {source="DOID:1067", source="EFO:0004190", source="MONDO:equivalentTo"}
xref: NCIT:C34641 {source="DOID:1067", source="MONDO:equivalentTo"}
xref: SCTID:111513000 {source="DOID:1067"}
xref: SCTID:193538009 {source="DOID:1067"}
xref: SCTID:193539001 {source="DOID:1067"}
xref: SCTID:193543002 {source="DOID:1067"}
xref: SCTID:46168003 {source="DOID:1067", source="MONDO:equivalentTo"}
xref: SCTID:84494001 {source="DOID:1067", source="EFO:0004190", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0017612 {source="MEDGEN:6611", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005041 {source="DOID:1067", source="EFO:0004190", source="MESH:D005902", source="NCIT:C34641"} ! glaucoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2507" xsd:anyURI

[Term]
id: MONDO:0005339
name: androgenetic alopecia
subset: gard_rare {source="GARD:9269", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia androgenetica, male pattern baldness" EXACT [DOID:0050801]
synonym: "androgenetic alopecia" EXACT [DOID:0050801]
synonym: "androgenic alopecia" RELATED [DOID:0050801]
synonym: "male pattern baldness" NARROW [https://ghr.nlm.nih.gov/condition/androgenetic-alopecia]
xref: DOID:0050801 {source="MONDO:equivalentTo", source="EFO:0004191"}
xref: EFO:0004191 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9269 {source="MONDO:GARD"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:87872006 {source="MONDO:equivalentTo"}
xref: UMLS:C0162311 {source="MEDGEN:56404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="DOID:0050801", source="EFO:0004191", source="MONDO:Redundant"} ! alopecia
is_a: MONDO:0021208 {source="MONDO:Redundant"} ! endocrine alopecia
intersection_of: MONDO:0004907 ! alopecia
intersection_of: disease_has_basis_in_disruption_of GO:0030521 ! androgen receptor signaling pathway

[Term]
id: MONDO:0005340
name: alopecia areata
def: "Loss of scalp and body hair involving microscopically inflammatory patchy areas." [MESH:D000506]
subset: gard_rare {source="GARD:5782", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia areata" EXACT [MESH:D000506]
synonym: "alopecia circumscripta" RELATED [MESH:D000506]
synonym: "circumscribed alopecia" EXACT [DOID:986]
synonym: "patchy loss of hair" RELATED []
xref: DOID:986 {source="MONDO:equivalentTo", source="EFO:0004192"}
xref: EFO:0004192 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5782 {source="MONDO:GARD"}
xref: ICD10CM:L63 {source="DOID:986", source="MONDO:equivalentTo"}
xref: ICD10CM:L63.9 {source="DOID:986"}
xref: ICD9:704.01 {source="DOID:986", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0004192"}
xref: MEDGEN:213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000506 {source="DOID:986", source="MONDO:equivalentTo", source="EFO:0004192"}
xref: SCTID:201131001 {source="DOID:986"}
xref: SCTID:238727007 {source="DOID:986"}
xref: SCTID:68225006 {source="DOID:986", source="MONDO:equivalentTo", source="EFO:0004192"}
xref: UMLS:C0002171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:213"}
is_a: MONDO:0004907 {source="EFO:0004192", source="MESH:D000506"} ! alopecia

[Term]
id: MONDO:0005341
name: skin basal cell carcinoma
def: "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas." [NCIT:C2921]
subset: otar {source="MONDO:OTAR"}
synonym: "basal cell cancer" BROAD [DOID:2513, NCIT:C2921]
synonym: "basal cell carcinoma" BROAD [NCIT:C2921]
synonym: "basal cell carcinoma NOS (morphologic abnormality)" RELATED EXCLUDE [DOID:2513]
synonym: "basal cell carcinoma of skin" EXACT [DOID:2513, MTH:100, NCIT:C2921]
synonym: "basal cell carcinoma of the skin" EXACT [NCIT:C2921]
synonym: "basal cell epithelioma" EXACT [NCIT:C2921]
synonym: "basal cell neoplasm" BROAD EXCLUDE [DOID:2513]
synonym: "basal cell neoplasm (morphologic abnormality)" BROAD EXCLUDE [DOID:2513]
synonym: "basal cell neoplasm NOS (morphologic abnormality)" BROAD EXCLUDE [DOID:2513]
synonym: "basal cell skin carcinoma" EXACT [NCIT:C2921]
synonym: "basal cell tumor" BROAD [DOID:2513, NCIT:C3784]
synonym: "basal cell tumor (morphologic abnormality)" BROAD EXCLUDE [DOID:2513]
synonym: "basal cell tumour" BROAD OMO:0003005 []
synonym: "basal cell tumour (morphologic abnormality)" BROAD OMO:0003005 []
synonym: "BCC" BROAD ABBREVIATION [NCIT:C2921]
synonym: "epithelioma basal cell" RELATED [DOID:2513]
synonym: "malignant basal cell neoplasm" BROAD EXCLUDE [DOID:2513]
synonym: "malignant basal cell tumor" BROAD EXCLUDE [DOID:2513]
synonym: "malignant basal cell tumor (morphologic abnormality)" BROAD EXCLUDE [DOID:2513]
synonym: "malignant basal cell tumour" BROAD OMO:0003005 []
synonym: "malignant basal cell tumour (morphologic abnormality)" BROAD OMO:0003005 []
synonym: "skin basal cell cancer" EXACT [NCIT:C2921]
synonym: "skin basal cell carcinoma" EXACT [NCIT:C2921]
xref: CSP:2000-2719 {source="DOID:2513"}
xref: DOID:2513 {source="MONDO:equivalentTo", source="EFO:0004193"}
xref: HP:0002671 {source="MONDO:otherHierarchy", source="DOID:2513"}
xref: ICDO:8090/3 {source="NCIT:C2921"}
xref: MEDGEN:1648304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002280 {source="DOID:2513", source="EFO:0004193"}
xref: MESH:D018295 {source="DOID:2513"}
xref: NCIT:C2921 {source="MONDO:equivalentTo", source="DOID:2513", source="EFO:0004193"}
xref: ONCOTREE:BCC {source="MONDO:equivalentTo"}
xref: SCTID:127570002 {source="DOID:2513"}
xref: SCTID:1338007 {source="DOID:2513", source="EFO:0004193"}
xref: SCTID:154507009 {source="DOID:2513"}
xref: SCTID:188083002 {source="DOID:2513"}
xref: SCTID:189572008 {source="DOID:2513"}
xref: SCTID:189573003 {source="DOID:2513"}
xref: SCTID:189574009 {source="DOID:2513"}
xref: SCTID:252995000 {source="DOID:2513"}
xref: SCTID:254701007 {source="MONDO:equivalentTo", source="DOID:2513"}
xref: SCTID:269582000 {source="DOID:2513"}
xref: SCTID:275265005 {source="DOID:2513"}
xref: SCTID:30649006 {source="DOID:2513"}
xref: SCTID:399049001 {source="DOID:2513"}
xref: UMLS:C4721806 {source="MEDGEN:1648304", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002656 {source="DOID:2513", source="MONDO:Redundant", source="NCIT:C2921"} ! skin carcinoma
is_a: MONDO:0020804 {source="NCIT:C2921"} ! basal cell carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_arises_from_structure CL:0002187 ! basal cell of epidermis
relationship: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0005342
name: IgA glomerulonephritis
def: "Inflammation of a specific segment of glomeruli within the kidney." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1298"}
subset: ordo_disorder {source="Orphanet:34145"}
subset: orphanet_rare {source="Orphanet:34145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Berger's disease" EXACT [NCIT:C34643]
synonym: "Berger's IgA or IgG nephropathy" EXACT [DOID:2986]
synonym: "focal glomerulonephritis" EXACT [DOID:2986, NCIT:C35280]
synonym: "IgA glomerulonephritis" EXACT [DOID:2986]
synonym: "IgA Nephropathy" EXACT [NORD:1298]
synonym: "IgA nephropathy" EXACT [DOID:2986, Orphanet:34145]
synonym: "primary IgA nephropathy" EXACT [DOID:2986]
synonym: "segmental glomerulonephritis" EXACT [DOID:2986]
xref: DOID:2986 {source="MONDO:equivalentTo", source="EFO:0004194"}
xref: EFO:0004194 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005922 {source="MONDO:equivalentTo", source="DOID:2986", source="EFO:0004194"}
xref: NANDO:1200366 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200121 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34643 {source="MONDO:equivalentTo", source="DOID:2986", source="EFO:0004194"}
xref: NCIT:C35280 {source="DOID:2986"}
xref: NORD:1298 {source="MONDO:NORD"}
xref: Orphanet:34145 {source="MONDO:equivalentTo"}
xref: SCTID:236407003 {source="DOID:2986", source="EFO:0004194"}
xref: SCTID:68779003 {source="MONDO:equivalentTo", source="DOID:2986"}
xref: UMLS:C0017661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9032"}
is_a: MONDO:0002462 {source="DOID:2986", source="MESH:D005922", source="NCIT:C34643"} ! glomerulonephritis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:161950"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6276" xsd:anyURI

[Term]
id: MONDO:0005343
name: obsolete viral human hepatitis
is_obsolete: true
replaced_by: MONDO:0006011

[Term]
id: MONDO:0005344
name: hepatitis B virus infection
def: "A viral infection caused by the hepatitis B virus." [NCIT:C3097]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic hepatitis B" NARROW [DOID:2043]
synonym: "Hepatitis B" EXACT [NCIT:C3097]
synonym: "Hepatitis B infection" EXACT [NCIT:C3097]
synonym: "hepatitis B infection" EXACT [DOID:2043]
synonym: "Hepatitis B virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepatitis B virus hepatitis" EXACT []
synonym: "hepatitis type B" EXACT [DOID:2043, MONDORULE:1]
synonym: "serum hepatitis" RELATED [DOID:2043]
synonym: "viral Hepatitis B" EXACT [NCIT:C3097]
xref: DOID:2043 {source="MONDO:equivalentTo"}
xref: EFO:0004197 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:070.30 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006509 {source="DOID:2043", source="MONDO:equivalentTo"}
xref: MESH:D019694 {source="DOID:2043", source="EFO:0004197"}
xref: NCIT:C3097 {source="DOID:2043", source="MONDO:equivalentTo", source="EFO:0004197"}
xref: SCTID:154348008 {source="DOID:2043"}
xref: SCTID:186625003 {source="DOID:2043"}
xref: SCTID:266195001 {source="DOID:2043"}
xref: SCTID:66071002 {source="DOID:2043", source="MONDO:equivalentTo"}
xref: UMLS:C0019163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6807"}
is_a: MONDO:0006011 {source="EFO:0004197", source="MESH:D006509", source="MONDO:Redundant", source="NCIT:C3097/inferred"} ! viral hepatitis
intersection_of: MONDO:0002251 ! hepatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10407 ! disease has primary infectious agent Hepatitis B virus
relationship: disease_has_infectious_agent NCBITaxon:10407 {source="MONDO:Wikidata"} ! Hepatitis B virus
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:2043", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0005345
name: hypospadias
def: "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce." [Orphanet:440]
subset: ordo_morphological_anomaly {source="Orphanet:440"}
subset: otar {source="MONDO:OTAR"}
synonym: "familial hypospadias" EXACT [DOID:10892]
synonym: "hypospadias" EXACT [MONDO:ambiguous]
synonym: "hypospadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hypospadias familial" RELATED [GARD:0002929]
xref: DOID:10892 {source="MONDO:equivalentTo", source="EFO:0004209"}
xref: EFO:0004209 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000047 {source="MONDO:otherHierarchy", source="EFO:0004209"}
xref: ICD10CM:Q54 {source="DOID:10892"}
xref: ICD10CM:Q54.0 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"}
xref: ICD10CM:Q54.1 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"}
xref: ICD10CM:Q54.2 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"}
xref: ICD10CM:Q54.3 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"}
xref: ICD10CM:Q54.4 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"}
xref: ICD10CM:Q54.8 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"}
xref: ICD10CM:Q54.9 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="DOID:10892", source="Orphanet:440"}
xref: ICD9:752.61 {source="EFO:0004209"}
xref: MEDGEN:163083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007021 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"}
xref: NCIT:C40341 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"}
xref: OMIMPS:300633 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:440 {source="MONDO:equivalentObsolete", source="DOID:10892"}
xref: SCTID:416010008 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"}
xref: UMLS:C0848558 {source="MEDGEN:163083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="EFO:0004209", source="NCIT:C40341/inferred"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300633"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "hypospadias (disease)" xsd:string

[Term]
id: MONDO:0005346
name: gallstones
def: "Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin." [MESH:D042882]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004210 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:574.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D042882 {source="EFO:0004210", source="MONDO:equivalentTo"}
xref: SCTID:235919008 {source="MONDO:equivalentTo"}
xref: UMLS:C0242216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66850"}
is_a: MONDO:0005281 {source="EFO:0004210", source="MESH:D042882/inferred"} ! gallbladder disorder

[Term]
id: MONDO:0005347
name: hypertriglyceridemia
def: "A laboratory test result indicating elevated triglyceride concentration in the blood." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hypertriglyceridemia" EXACT [MONDO:ambiguous]
synonym: "hypertriglyceridemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0004211 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002155 {source="MONDO:otherHierarchy"}
xref: MEDGEN:167238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015228 {source="EFO:0004211", source="MONDO:equivalentTo"}
xref: NCIT:C37971 {source="EFO:0004211", source="MONDO:otherHierarchy"}
xref: SCTID:302870006 {source="EFO:0004211", source="MONDO:equivalentTo"}
xref: UMLS:C0813230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167238"}
is_a: MONDO:0005066 {source="EFO:0004211", source="MESH:D015228/inferred"} ! metabolic disease
property_value: IAO:0000589 "hypertriglyceridemia (disease)" xsd:string

[Term]
id: MONDO:0005348
name: keloid
def: "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004212 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:701.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:7197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007627 {source="EFO:0004212", source="MONDO:equivalentTo"}
xref: NCIT:C3145 {source="EFO:0004212", source="MONDO:equivalentTo"}
xref: SCTID:33659008 {source="MONDO:equivalentTo"}
xref: SCTID:58405006 {source="EFO:0004212"}
xref: UMLS:C0022548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7197"}
is_a: MONDO:0005093 {source="EFO:0004212", source="MONDO:Redundant", source="NCIT:C3145/inferred"} ! skin disorder
is_a: MONDO:0006603 {source="NCIT:C3145"} ! reactive cutaneous fibrous lesion

[Term]
id: MONDO:0005349
name: otosclerosis
def: "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs." [MESH:D010040]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "otosclerosis" EXACT [MONDO:ambiguous]
synonym: "otosclerosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12185 {source="EFO:0004213", source="MONDO:equivalentTo"}
xref: EFO:0004213 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000362 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H80.8 {source="DOID:12185"}
xref: ICD10CM:H80.80 {source="DOID:12185"}
xref: ICD9:387 {source="EFO:0004213"}
xref: ICD9:387.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:12185"}
xref: ICD9:387.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010040 {source="EFO:0004213", source="MONDO:equivalentTo"}
xref: NCIT:C185242 {source="MONDO:equivalentTo"}
xref: OMIMPS:166800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2794 {source="MONDO:equivalentObsolete", source="DOID:12185"}
xref: SCTID:11543004 {source="EFO:0004213", source="MONDO:equivalentTo"}
xref: SCTID:194382008 {source="DOID:12185"}
xref: SCTID:194691004 {source="DOID:12185"}
xref: UMLS:C0029899 {source="MEDGEN:10508", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:12185"} ! inner ear disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:166800"} ! inherited
property_value: IAO:0000589 "otosclerosis (disease)" xsd:string

[Term]
id: MONDO:0005350
name: abdominal aortic aneurysm
def: "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "aortic aneurysm, familial abdominal 1" NARROW [DOID:7693]
xref: DOID:7693 {source="EFO:0004214", source="MONDO:equivalentTo"}
xref: EFO:0004214 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:56524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017544 {source="EFO:0004214", source="MONDO:equivalentTo", source="DOID:7693"}
xref: NCIT:C27000 {source="EFO:0004214", source="MONDO:otherHierarchy", source="DOID:7693"}
xref: SCTID:155422008 {source="DOID:7693"}
xref: SCTID:233985008 {source="EFO:0004214", source="MONDO:equivalentTo", source="DOID:7693"}
xref: UMLS:C0162871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56524"}
is_a: MONDO:0005160 {source="DOID:7693", source="EFO:0004214"} ! aortic aneurysm

[Term]
id: MONDO:0005351
name: anorexia nervosa
def: "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8689 {source="EFO:0004215", source="MONDO:equivalentTo"}
xref: ICD10CM:F50.0 {source="DOID:8689", source="MONDO:equivalentTo"}
xref: ICD10CM:F50.00 {source="DOID:8689"}
xref: ICD9:307.1 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000856 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo"}
xref: NCIT:C34387 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo"}
xref: Orphanet:36297 {source="MONDO:equivalentObsolete"}
xref: SCTID:154926005 {source="DOID:8689"}
xref: SCTID:192445002 {source="DOID:8689"}
xref: SCTID:56882008 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo"}
xref: UMLS:C0003125 {source="MEDGEN:316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005451 {source="DOID:8689", source="EFO:0004215", source="NCIT:C34387"} ! eating disorder

[Term]
id: MONDO:0005352
name: conduct disorder
def: "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:12995 {source="MONDO:equivalentTo", source="EFO:0004216"}
xref: EFO:0004216 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F91 {source="DOID:12995"}
xref: ICD10CM:F91.9 {source="DOID:12995"}
xref: ICD9:312.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:312.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12995"}
xref: MEDGEN:56196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019955 {source="MONDO:equivalentTo", source="EFO:0004216", source="DOID:12995"}
xref: NCIT:C89329 {source="MONDO:equivalentTo", source="EFO:0004216", source="DOID:12995"}
xref: SCTID:154945001 {source="DOID:12995"}
xref: SCTID:192104004 {source="DOID:12995"}
xref: SCTID:192106002 {source="DOID:12995"}
xref: SCTID:192597006 {source="DOID:12995"}
xref: SCTID:192603009 {source="DOID:12995"}
xref: SCTID:268782006 {source="DOID:12995"}
xref: SCTID:268785008 {source="DOID:12995"}
xref: SCTID:430909002 {source="MONDO:equivalentTo", source="EFO:0004216", source="DOID:12995"}
xref: UMLS:C0149654 {source="MONDO:equivalentTo", source="MEDGEN:56196", source="MONDO:MEDGEN"}
is_a: MONDO:0000592 {source="DOID:12995"} ! specific developmental disorder

[Term]
id: MONDO:0005353
name: obsolete marijuana dependence
def: "OBSOLETE. The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." [EFO:0004218]
is_obsolete: true
replaced_by: MONDO:0005689

[Term]
id: MONDO:0005354
name: chronic hepatitis C virus infection
def: "Chronic form of hepatitis C infection." [MONDO:patterns/chronic]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic Hepatitis C" EXACT [MESH:D019698]
synonym: "hepatitis C infection, chronic" EXACT [MONDO:patterns/chronic]
synonym: "hepatitis C, chronic" EXACT [MONDO:patterns/chronic]
xref: EFO:0004220 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:070.44 {source="EFO:0004220"}
xref: MESH:D019698 {source="MONDO:equivalentTo", source="EFO:0004220"}
xref: SCTID:128302006 {source="EFO:0004220"}
is_a: MONDO:0005231 {source="EFO:0004220", source="MESH:D019698", source="MONDO:Redundant"} ! hepatitis C virus infection
intersection_of: MONDO:0005231 ! hepatitis C virus infection
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0005355
name: coronary restenosis
def: "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." [MESH:D023903]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4247 {source="EFO:0004224", source="MONDO:equivalentTo"}
xref: EFO:0004224 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:182688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D023903 {source="EFO:0004224", source="DOID:4247", source="MONDO:equivalentTo"}
xref: UMLS:C0948480 {source="MEDGEN:182688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006715 {source="DOID:4247", source="MESH:D023903"} ! coronary stenosis

[Term]
id: MONDO:0005356
name: coronary vasospasm
def: "Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "coronary artery spasm" EXACT [DOID:11840]
synonym: "coronary artery vasospasm" RELATED [DOID:11840]
synonym: "coronary vasospasm" EXACT [DOID:11840, NCIT:C34515]
xref: DOID:11840 {source="EFO:0004225", source="MONDO:equivalentTo"}
xref: EFO:0004225 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:413.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003329 {source="EFO:0004225", source="MONDO:equivalentTo", source="DOID:11840"}
xref: NCIT:C34515 {source="EFO:0004225", source="MONDO:otherHierarchy", source="DOID:11840"}
xref: SCTID:23687008 {source="MONDO:equivalentTo", source="DOID:11840"}
xref: UMLS:C0010073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3626"}
is_a: MONDO:0005010 {source="DOID:11840", source="EFO:0004225"} ! coronary artery disorder

[Term]
id: MONDO:0005357
name: Creutzfeldt Jacob disease
def: "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1014"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CJD" EXACT ABBREVIATION [DOID:11949]
synonym: "CJD (Creutzfeldt Jakob disease)" EXACT [DOID:11949]
synonym: "classic Creutzfeldt-Jakob disease" EXACT [NCIT:C26802]
synonym: "Creutzfeldt Jacob syndrome" EXACT [DOID:11949]
synonym: "Creutzfeldt Jakob Disease" EXACT [NORD:1014]
synonym: "Creutzfeldt Jakob disease" EXACT [DOID:11949]
synonym: "Creutzfeldt-Jacob disease" EXACT [DOID:11949, NCIT:C26802]
synonym: "Creutzfeldt-Jakob disease" RELATED [DOID:11949]
synonym: "Jakob-Creutzfeldt disease" EXACT [DOID:11949, ICD9CM:046.1]
synonym: "Subacute spongiform encephalopathy" EXACT [DOID:11949]
synonym: "transmissible virus dementia" EXACT [DOID:11949]
xref: DOID:11949 {source="EFO:0004226", source="MONDO:equivalentTo"}
xref: EFO:0004226 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A81.0 {source="DOID:11949"}
xref: ICD10CM:A81.00 {source="DOID:11949"}
xref: ICD9:046.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11949"}
xref: ICD9:046.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007562 {source="EFO:0004226", source="MONDO:equivalentTo", source="DOID:11949"}
xref: NCIT:C26802 {source="EFO:0004226", source="MONDO:equivalentTo", source="DOID:11949"}
xref: NORD:1014 {source="MONDO:NORD"}
xref: SCTID:155061007 {source="DOID:11949"}
xref: SCTID:792004 {source="MONDO:equivalentTo", source="DOID:11949"}
xref: SCTID:79358009 {source="DOID:11949"}
xref: UMLS:C0022336 {source="MEDGEN:7179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005429 {source="DOID:11949", source="EFO:0004226", source="MESH:D007562"} ! prion disease

[Term]
id: MONDO:0005358
name: Dengue hemorrhagic fever
def: "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dengue haemorrhagic fever" RELATED [DOID:12206]
synonym: "DHF" EXACT ABBREVIATION [DOID:12206]
xref: DOID:12206 {source="MONDO:equivalentTo", source="EFO:0004227"}
xref: EFO:0004227 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A91 {source="DOID:12206", source="MONDO:equivalentTo"}
xref: MEDGEN:5506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019595 {source="DOID:12206"}
xref: NCIT:C34683 {source="DOID:12206", source="MONDO:equivalentTo", source="EFO:0004227"}
xref: SCTID:186598001 {source="DOID:12206"}
xref: SCTID:186599009 {source="DOID:12206"}
xref: SCTID:20927009 {source="DOID:12206", source="MONDO:equivalentTo", source="EFO:0004227"}
xref: UMLS:C0019100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5506"}
is_a: MONDO:0005502 {source="DOID:12206", source="EFO:0004227", source="NCIT:C34683"} ! dengue disease
is_a: MONDO:0018087 {source="https://github.com/monarch-initiative/mondo/issues/1992"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:12637 ! disease has primary infectious agent Dengue virus
relationship: disease_has_feature HP:0001873 ! Thrombocytopenia

[Term]
id: MONDO:0005359
name: drug-induced liver injury
def: "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment." [MESH:D056486]
subset: otar {source="MONDO:OTAR"}
synonym: "drug induced hepatotoxicity" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4144765, SCTID:427399008]
synonym: "drug-induced disorder of liver" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4144765, SCTID:427399008]
xref: EFO:0004228 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:163652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056486 {source="EFO:0004228", source="MONDO:equivalentTo"}
xref: SCTID:197352008 {source="EFO:0004228", source="MONDO:equivalentTo"}
xref: UMLS:C0860207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163652"}
is_a: MONDO:0005154 {source="EFO:0004228", source="MESH:D056486", source="MONDO:Redundant"} ! liver disorder
intersection_of: MONDO:0005154 ! liver disorder
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0005360
name: obsolete Dupuytren contracture
synonym: "obsolete Dupuytren contracture (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete Dupuytren contracture (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0006345

[Term]
id: MONDO:0005361
name: eosinophilic esophagitis
def: "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs)." [Orphanet:73247]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EoE" EXACT [Orphanet:73247]
xref: DOID:13922 {source="EFO:0004232", source="MONDO:equivalentTo"}
xref: EFO:0004232 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K20 {source="Orphanet:73247/ntbt", source="Orphanet:73247"}
xref: ICD10CM:K20.0 {source="DOID:13922", source="MONDO:equivalentTo"}
xref: ICD9:530.13 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10064212 {source="Orphanet:73247", source="Orphanet:73247/e"}
xref: MEDGEN:83318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057765 {source="EFO:0004232", source="DOID:13922", source="Orphanet:73247", source="MONDO:equivalentTo", source="Orphanet:73247/e"}
xref: NANDO:1200456 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27105 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo"}
xref: Orphanet:73247 {source="DOID:13922", source="MONDO:equivalentObsolete"}
xref: SCTID:235599003 {source="EFO:0004232", source="DOID:13922", source="MONDO:equivalentTo"}
xref: UMLS:C0341106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83318"}
is_a: MONDO:0001409 {source="DOID:13922", source="MESH:D057765", source="NCIT:C27105"} ! esophagitis
is_a: MONDO:0018438 {source="Orphanet:73247"} ! eosinophilic gastrointestinal disease
intersection_of: MONDO:0018438 ! eosinophilic gastrointestinal disease
intersection_of: disease_has_inflammation_site UBERON:0001043 ! esophagus

[Term]
id: MONDO:0005362
name: erectile dysfunction
def: "Persistent or recurrent inability to achieve or to maintain an erection during sexual activity." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dysfunction, erectile" RELATED [MESH:D007172]
synonym: "erectile dysfunction" EXACT [DOID:1875, MONDO:ambiguous]
synonym: "erectile dysfunction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "impotence" RELATED [DOID:1875, MESH:D007172]
synonym: "impotence, male" RELATED [MESH:D007172]
synonym: "impotence, male sexual" RELATED [MESH:D007172]
synonym: "male erectile Disorder" EXACT [NCIT:C34801]
synonym: "male impotence" RELATED [MESH:D007172]
synonym: "male sexual impotence" RELATED [MESH:D007172]
synonym: "sexual impotence" EXACT [DOID:1875]
synonym: "sexual impotence (finding)" EXACT [DOID:1875]
synonym: "sexual impotence, Male" RELATED [MESH:D007172]
xref: DOID:1875 {source="EFO:0004234", source="MONDO:equivalentTo"}
xref: EFO:0004234 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000802 {source="MONDO:otherHierarchy"}
xref: MEDGEN:66879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007172 {source="EFO:0004234", source="MONDO:equivalentTo"}
xref: NCIT:C3133 {source="EFO:0004234", source="MONDO:otherHierarchy"}
xref: NCIT:C34801 {source="MONDO:equivalentTo"}
xref: SCTID:397803000 {source="EFO:0004234", source="MONDO:equivalentTo"}
xref: UMLS:C0242350 {source="MEDGEN:66879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002134 {source="DOID:1875", source="MESH:D007172"} ! physiological sexual disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0043084 ! penile erection
relationship: disease_has_location UBERON:0000989 {source="EFO:0000784"} ! penis
property_value: IAO:0000589 "erectile dysfunction (disease)" xsd:string

[Term]
id: MONDO:0005363
name: inherited focal segmental glomerulosclerosis
def: "An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: NANDO:1200722 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200113 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:603278 {source="MONDO:equivalentTo", source="DOID:1312"}
is_a: MONDO:0000490 {source="DOID:1312"} ! glomerulosclerosis
intersection_of: MONDO:0100313 ! focal segmental glomerulosclerosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603278"} ! inherited

[Term]
id: MONDO:0005364
name: Graves disease
def: "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery." [GARD:0006549]
subset: otar {source="MONDO:OTAR"}
synonym: "Basedow disease" RELATED [GARD:0006549]
synonym: "Basedow's disease" RELATED [DOID:12361]
synonym: "exophthalmic goiter" EXACT [DOID:12361]
synonym: "exophthalmic goitre" EXACT OMO:0003005 []
synonym: "grave's disease" EXACT [DOID:12361]
synonym: "Graves disease" EXACT [DOID:12361]
synonym: "Graves' disease" RELATED [DOID:12361]
synonym: "Graves' hyperthyroidism" RELATED [GARD:0006549]
synonym: "parry disease" RELATED [GARD:0006549]
xref: DOID:12361 {source="EFO:0004237", source="MONDO:equivalentTo"}
xref: EFO:0004237 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E05.0 {source="DOID:12361"}
xref: ICD9:242.0 {source="EFO:0004237"}
xref: MEDGEN:6677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006111 {source="EFO:0004237", source="MONDO:equivalentTo", source="DOID:12361"}
xref: NANDO:2200328 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3071 {source="EFO:0004237", source="MONDO:equivalentTo", source="DOID:12361"}
xref: SCTID:154655004 {source="DOID:12361"}
xref: SCTID:190240002 {source="DOID:12361"}
xref: SCTID:237510004 {source="DOID:12361"}
xref: SCTID:237823003 {source="DOID:12361"}
xref: SCTID:267374005 {source="EFO:0004237"}
xref: SCTID:267464006 {source="DOID:12361"}
xref: SCTID:353295004 {source="EFO:0004237", source="MONDO:equivalentTo", source="DOID:12361"}
xref: SCTID:367367004 {source="DOID:12361"}
xref: SCTID:367449005 {source="DOID:12361"}
xref: SCTID:38591003 {source="DOID:12361"}
xref: SCTID:55807009 {source="DOID:12361"}
xref: UMLS:C0018213 {source="MEDGEN:6677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001104 {source="https://emedicine.medscape.com/article/120140-overview"} ! toxic diffuse goiter
is_a: MONDO:0004425 {source="MESH:D006111", source="MONDO:Redundant", source="NCIT:C3071"} ! hyperthyroidism
is_a: MONDO:0005397 {source="MESH:D006111", source="NCIT:C3071"} ! goiter
is_a: MONDO:0005623 {source="EFO:0004237"} ! autoimmune thyroid disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6549/graves-disease" xsd:anyURI {source="GARD:0006549"}

[Term]
id: MONDO:0005365
name: hearing loss disorder
def: "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central." [NCIT:C35731]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "deafness" NARROW [https://orcid.org/0000-0002-6601-2165]
synonym: "hearing impairment" RELATED [MESH:D034381]
synonym: "hearing loss" EXACT [NCIT:C35731]
synonym: "hypoacuses" EXACT [MESH:D034381]
synonym: "hypoacusis" EXACT [MESH:D034381]
synonym: "loss of hearing" EXACT [NCIT:C35731]
synonym: "loss, hearing" EXACT [MESH:D034381]
xref: EFO:0004238 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H90 {source="MONDO:equivalentTo"}
xref: ICD9:389 {source="EFO:0004238"}
xref: ICD9:389.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:389.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:235586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034381 {source="MONDO:equivalentTo", source="EFO:0004238"}
xref: NCIT:C35731 {source="MONDO:equivalentTo", source="EFO:0004238"}
xref: SCTID:15188001 {source="MONDO:equivalentTo", source="EFO:0004238"}
xref: UMLS:C1384666 {source="MEDGEN:235586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021945 {source="MESH:D034381", source="MONDO:Redundant", source="NCIT:C35731/inferred"} ! hearing disorder
relationship: disease_disrupts GO:0007605 ! sensory perception of sound

[Term]
id: MONDO:0005366
name: chronic hepatitis B virus infection
def: "Chronic form of hepatitis B infection." [MONDO:patterns/chronic]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic Hepatitis B" EXACT [MESH:D019694]
synonym: "hepatitis B infection, chronic" EXACT [MONDO:patterns/chronic]
synonym: "hepatitis B, chronic" EXACT [MONDO:patterns/chronic]
xref: EFO:0004239 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:99834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019694 {source="EFO:0004239", source="MONDO:equivalentTo"}
xref: UMLS:C0524909 {source="MEDGEN:99834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005344 {source="EFO:0004239", source="MESH:D019694", source="MONDO:Redundant"} ! hepatitis B virus infection
intersection_of: MONDO:0005344 ! hepatitis B virus infection
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0005367
name: heroin dependence
def: "Physical and psychological dependence on the drug heroin." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Heroin addiction" EXACT [NCIT:C34694]
xref: DOID:9976 {source="MONDO:equivalentTo", source="EFO:0004240"}
xref: EFO:0004240 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:5532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006556 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240"}
xref: NCIT:C34694 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240"}
xref: SCTID:191817000 {source="DOID:9976"}
xref: SCTID:192220003 {source="DOID:9976"}
xref: SCTID:231477003 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240"}
xref: UMLS:C0019337 {source="MEDGEN:5532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005303 {source="DOID:9976/inferred", source="EFO:0004240/inferred", source="MONDO:Redundant", source="NCIT:C34694"} ! drug dependence
is_a: MONDO:0005530 {source="DOID:9976", source="EFO:0004240", source="MESH:D006556"} ! opiate dependence

[Term]
id: MONDO:0005368
name: obsolete obsessive-compulsive disorder
is_obsolete: true
replaced_by: MONDO:0008114

[Term]
id: MONDO:0005369
name: carcinoid tumor
def: "A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement." [NCIT:C2915]
comment: Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid" EXACT [NCIT:C2915]
synonym: "carcinoid tumor" EXACT [MONDO:ambiguous, NCIT:C2915]
synonym: "carcinoid tumor (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "NET G1" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "neuroendocrine neoplasm G1" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "neuroendocrine tumor G1" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "neuroendocrine tumour G1" EXACT OMO:0003005 []
xref: EFO:0004243 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100570 {source="MONDO:otherHierarchy"}
xref: ICD9:209.60 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:8240/3 {source="NCIT:C2915"}
xref: ICDO:8241/3 {source="NCIT:C2915"}
xref: MEDGEN:2838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002276 {source="EFO:0004243", source="MONDO:equivalentTo"}
xref: NANDO:2200396 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2915 {source="EFO:0004243", source="MONDO:equivalentTo"}
xref: SCTID:443492008 {source="EFO:0004243", source="MONDO:equivalentTo"}
xref: SCTID:81622000 {source="EFO:0004243"}
xref: UMLS:C0007095 {source="MEDGEN:2838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:0004243", source="MESH:D002276/inferred", source="NCIT:C2915/inferred"} ! neoplasm
is_a: MONDO:0019496 {source="MESH:D002276", source="NCIT:C2915"} ! neuroendocrine neoplasm
property_value: IAO:0000589 "carcinoid tumor (disease)" xsd:string

[Term]
id: MONDO:0005370
name: obsolete interstitial lung disease
is_obsolete: true
replaced_by: MONDO:0015925

[Term]
id: MONDO:0005371
name: mood disorder
def: "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature." [Wikipedia:Mood_disorder]
subset: otar {source="MONDO:OTAR"}
synonym: "episodic mood disorder" NARROW []
xref: DOID:3324 {source="EFO:0004247", source="MONDO:equivalentTo"}
xref: EFO:0004247 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F30-F39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:3324", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F39 {source="DOID:3324"}
xref: ICD9:296.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:99866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019964 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo"}
xref: NCIT:C92200 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo"}
xref: SCTID:192348001 {source="DOID:3324"}
xref: SCTID:192391006 {source="DOID:3324"}
xref: SCTID:268713007 {source="DOID:3324"}
xref: SCTID:46206005 {source="DOID:3324", source="EFO:0004247", source="MONDO:equivalentTo"}
xref: SCTID:74421008 {source="DOID:3324"}
xref: UMLS:C0525045 {source="MEDGEN:99866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="MESH:D019964", source="MONDO:Redundant", source="NCIT:C92200"} ! psychiatric disorder
is_a: MONDO:0005084 {source="EFO:0004247", source="ICD10CM:F30-F39"} ! mental disorder

[Term]
id: MONDO:0005372
name: male infertility
def: "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility." [MESH:D007248]
subset: otar {source="MONDO:OTAR"}
synonym: "infertility disorder of male reproductive system" EXACT [MONDO:design_pattern]
synonym: "male reproductive system infertility" EXACT [MONDO:patterns/location]
synonym: "male reproductive system infertility disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:12336 {source="EFO:0004248", source="MONDO:equivalentTo"}
xref: EFO:0004248 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N46 {source="DOID:12336", source="MONDO:equivalentTo"}
xref: ICD10CM:N46.9 {source="DOID:12336"}
xref: ICD9:606 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"}
xref: ICD9:606.9 {source="DOID:12336", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:5796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007248 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"}
xref: SCTID:155924001 {source="DOID:12336"}
xref: SCTID:198018002 {source="DOID:12336"}
xref: SCTID:2904007 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"}
xref: UMLS:C0021364 {source="MEDGEN:5796", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="DOID:12336", source="ICD10CM:N46", source="MESH:D007248/inferred", source="MONDO:Redundant"} ! male reproductive system disorder
is_a: MONDO:0005047 {source="EFO:0004248", source="MESH:D007248", source="MONDO:Entailed", source="MONDO:Redundant"} ! infertility disorder
intersection_of: MONDO:0005047 ! infertility disorder
intersection_of: disease_has_location UBERON:0000079 ! male reproductive system

[Term]
id: MONDO:0005373
name: meningococcal infection
def: "Infections with bacteria of the species neisseria meningitidis." [MESH:D008589]
subset: otar {source="MONDO:OTAR"}
synonym: "infections, Neisseria meningitidis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "meningococcal disease" RELATED [GARD:0007169]
synonym: "Neisseria meningitidis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: EFO:0004249 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A39 {source="MONDO:equivalentTo"}
xref: ICD9:036 {source="EFO:0004249"}
xref: ICD9:036.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:036.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:7537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008589 {source="MONDO:equivalentTo", source="EFO:0004249"}
xref: SCTID:23511006 {source="MONDO:equivalentTo"}
xref: UMLS:C0025303 {source="MEDGEN:7537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:0004249", source="MESH:D008589/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:487 ! Neisseria meningitidis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection" xsd:anyURI {source="GARD:0009547"}

[Term]
id: MONDO:0005374
name: bone marrow neoplasm
def: "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow)." [NCIT:C35370]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone marrow cancer" NARROW [DOID:4960]
synonym: "bone marrow neoplasm" EXACT [DOID:4960, NCIT:C35370]
synonym: "bone marrow neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "bone marrow tumor" EXACT [DOID:4960, MONDO:patterns/neoplasm, NCIT:C35370]
synonym: "bone marrow tumour" EXACT OMO:0003005 []
synonym: "malignant bone marrow tumor" NARROW [DOID:4960]
synonym: "malignant bone marrow tumour" NARROW OMO:0003005 []
synonym: "malignant neoplasm of bone marrow" NARROW EXCLUDE [DOID:4960]
synonym: "neoplasm of bone marrow" EXACT [MONDO:patterns/neoplasm, NCIT:C35370]
synonym: "tumor of bone marrow" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of bone marrow" EXACT OMO:0003005 []
xref: DOID:4960 {source="MONDO:equivalentTo"}
xref: ICD10CM:D47.1 {source="DOID:4960"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:129203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019046 {source="MONDO:equivalentTo"}
xref: NCIT:C35370 {source="MONDO:equivalentTo"}
xref: SCTID:128925001 {source="DOID:4960"}
xref: SCTID:188772004 {source="DOID:4960"}
xref: SCTID:20921005 {source="DOID:4960"}
xref: SCTID:414794006 {source="DOID:4960"}
xref: SCTID:414824005 {source="MONDO:equivalentTo"}
xref: SCTID:425333006 {source="DOID:4960", source="EFO:0004251"}
xref: UMLS:C0282609 {source="MEDGEN:129203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002334 {source="DOID:4960/inferred", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0003225 {source="DOID:4960", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370"} ! bone marrow disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002371 ! bone marrow

[Term]
id: MONDO:0005375
name: nasopharyngeal neoplasm
alt_id: MONDO:0021362
def: "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma." [NCIT:C3257]
subset: otar {source="MONDO:OTAR"}
synonym: "nasopharyngeal neoplasms" EXACT [NCIT:C3257]
synonym: "nasopharyngeal tumor" EXACT [NCIT:C3257]
synonym: "nasopharyngeal tumour" EXACT OMO:0003005 []
synonym: "nasopharynx neoplasm" EXACT []
synonym: "nasopharynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nasopharynx tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "nasopharynx tumour" EXACT OMO:0003005 []
synonym: "neoplasm of nasopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3257]
synonym: "neoplasm of the nasopharynx" EXACT [NCIT:C3257]
synonym: "tumor of nasopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3257]
synonym: "tumor of the nasopharynx" EXACT [NCIT:C3257]
synonym: "tumour of nasopharynx" EXACT OMO:0003005 []
synonym: "tumour of the nasopharynx" EXACT OMO:0003005 []
xref: EFO:0004252 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538339 {source="EFO:0004252"}
xref: MESH:D009303 {source="MONDO:equivalentTo", source="EFO:0004252"}
xref: NCIT:C3257 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0004252"}
xref: SCTID:126680004 {source="MONDO:equivalentTo"}
xref: SCTID:449248000 {source="EFO:0004252"}
xref: UMLS:C0027439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6526"}
is_a: MONDO:0004821 {source="MESH:D009303", source="MONDO:Redundant", source="NCIT:C3257"} ! nasopharyngeal disorder
is_a: MONDO:0005070 {source="EFO:0004252", source="MESH:D009303/inferred", source="MONDO:Redundant", source="NCIT:C3257/inferred"} ! neoplasm
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3257"} ! pharynx neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0005376
name: membranous glomerulonephritis
def: "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome." [NCIT:C34645]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "membranous Glomerulonephropathy" EXACT [NCIT:C34645]
synonym: "membranous nephropathy" EXACT [DOID:10976]
xref: DOID:10976 {source="EFO:0004254", source="MONDO:equivalentTo"}
xref: EFO:0004254 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N03.2 {source="DOID:10976"}
xref: ICD9:582.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:583.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:42231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015433 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo"}
xref: NANDO:1200721 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200114 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34645 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo"}
xref: SCTID:197710000 {source="DOID:10976"}
xref: SCTID:77182004 {source="EFO:0004254", source="DOID:10976", source="MONDO:equivalentTo"}
xref: UMLS:C0017665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42231"}
is_a: MONDO:0002462 {source="DOID:10976", source="MESH:D015433", source="NCIT:C34645"} ! glomerulonephritis
relationship: disease_has_location UBERON:0005777 ! glomerular basement membrane

[Term]
id: MONDO:0005377
name: nephrotic syndrome
def: "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." [NCIT:C34845]
subset: otar {source="MONDO:OTAR"}
synonym: "Finnish congenital nephrosis" RELATED EXCLUDE [DOID:1184]
synonym: "nephrosis" RELATED [NCIT:C34845]
synonym: "nephrotic syndrome" EXACT [NCIT:C34845]
synonym: "nephrotic syndromes" EXACT [MESH:D009404]
synonym: "syndrome, nephrotic" EXACT [MESH:D009404]
synonym: "syndromes, nephrotic" EXACT [MESH:D009404]
xref: DOID:1184 {source="EFO:0004255", source="MONDO:equivalentTo"}
xref: EFO:0004255 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N04 {source="DOID:1184"}
xref: ICD9:581 {source="EFO:0004255", source="DOID:1184"}
xref: ICD9:581.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009404 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"}
xref: NANDO:2100009 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34845 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"}
xref: Orphanet:564127 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:155851004 {source="DOID:1184"}
xref: SCTID:197611005 {source="DOID:1184"}
xref: SCTID:52254009 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"}
xref: UMLS:C0027726 {source="MEDGEN:10308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C34845"} ! syndromic disease
is_a: MONDO:0002331 {source="DOID:1184", source="MESH:D009404"} ! nephrosis
relationship: disease_has_feature HP:0000093 {source="NCIT:C34845-def"} ! Proteinuria
relationship: disease_has_feature HP:0000969 {source="NCIT:C34845-def"} ! Edema
relationship: disease_has_feature HP:0003073 {source="NCIT:C34845-def"} ! Hypoalbuminemia

[Term]
id: MONDO:0005378
name: obsolete neuromyelitis optica
is_obsolete: true
replaced_by: MONDO:0019100

[Term]
id: MONDO:0005379
name: neurotic disorder
def: "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears." [NCIT:C34848]
subset: otar {source="MONDO:OTAR"}
synonym: "depressive neurosis" NARROW [DOID:4964, MTH:NOCODE]
synonym: "disorder, neurotic" RELATED [MESH:D009497]
synonym: "disorders, neurotic" RELATED [MESH:D009497]
synonym: "neuroses" RELATED [MESH:D009497]
synonym: "neurosis" EXACT [DOID:4964, NCIT:C34848]
synonym: "neurotic depression" NARROW [DOID:4964]
synonym: "neurotic depression reactive type" NARROW [DOID:4964]
synonym: "neurotic depressive state" NARROW [DOID:4964]
synonym: "neurotic disorder" EXACT [MESH:D009497]
synonym: "Psychoneuroses" RELATED [MESH:D009497]
synonym: "psychoneurosis" EXACT [DOID:4964]
synonym: "psychoneurosis NOS" NARROW [DOID:4964]
synonym: "reactive depression" NARROW [DOID:4964]
xref: DOID:4964 {source="EFO:0004257", source="MONDO:equivalentTo"}
xref: EFO:0004257 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F34.1 {source="MONDO:relatedTo", source="DOID:4964"}
xref: ICD10CM:F48.9 {source="DOID:4964"}
xref: ICD9:300.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:300.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564323 {source="EFO:0004257"}
xref: MESH:D000275 {source="DOID:4964", source="MONDO:directSiblingOf"}
xref: MESH:D003866 {source="MONDO:relatedTo", source="DOID:4964"}
xref: MESH:D009497 {source="EFO:0004257", source="MONDO:equivalentTo", source="DOID:4964"}
xref: NCIT:C34533 {source="DOID:4964"}
xref: NCIT:C34848 {source="MONDO:equivalentTo", source="DOID:4964"}
xref: NCIT:C35369 {source="MONDO:relatedTo", source="DOID:4964"}
xref: SCTID:111475002 {source="MONDO:equivalentTo", source="DOID:4964"}
xref: SCTID:154881002 {source="DOID:4964"}
xref: SCTID:154889000 {source="DOID:4964"}
xref: SCTID:191740008 {source="DOID:4964"}
xref: SCTID:191748001 {source="DOID:4964"}
xref: SCTID:192372006 {source="DOID:4964"}
xref: SCTID:192442004 {source="DOID:4964"}
xref: SCTID:268632008 {source="DOID:4964"}
xref: SCTID:268753005 {source="DOID:4964"}
xref: SCTID:78667006 {source="MONDO:relatedTo", source="DOID:4964"}
xref: SCTID:87414006 {source="DOID:4964"}
xref: UMLS:C0027932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10334"}
is_a: MONDO:0002025 {source="MESH:D009497", source="MESH:D009497/inferred", source="NCIT:C34848/inferred"} ! psychiatric disorder
is_a: MONDO:0005084 {source="EFO:0004257"} ! mental disorder
is_a: MONDO:0005618 {source="DOID:4964", source="MESH:D009497", source="NCIT:C34848"} ! anxiety disorder

[Term]
id: MONDO:0005380
name: osteonecrosis
def: "A none disease characterized by death of bone tissue due to a lack of blood supply." [https://www.mayoclinic.org/diseases-conditions/avascular-necrosis/symptoms-causes/syc-20369859]
subset: disease_grouping
subset: gard_rare {source="GARD:21657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1537"}
subset: ordo_group_of_disorders {source="Orphanet:399158"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aseptic necrosis" EXACT [DOID:10159]
synonym: "bone necrosis" EXACT [DOID:10159, NCIT:C34880, Orphanet:399158]
synonym: "ischaemic bone disease" EXACT OMO:0003005 []
synonym: "ischemic bone disease" EXACT [MONDO:0000835]
synonym: "osteonecrosis" EXACT [NCIT:C34880]
xref: DOID:0080008 {source="MONDO:equivalentTo"}
xref: DOID:10159 {source="EFO:0004259", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:0004259 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21657 {source="MONDO:GARD"}
xref: ICD10CM:M87 {source="DOID:10159", source="MONDO:equivalentTo"}
xref: ICD10CM:M87.0 {source="Orphanet:399158", source="Orphanet:399158/ntbt"}
xref: ICD10CM:M87.1 {source="Orphanet:399158", source="Orphanet:399158/ntbt"}
xref: ICD10CM:M87.2 {source="Orphanet:399158", source="Orphanet:399158/ntbt"}
xref: ICD10CM:M87.3 {source="Orphanet:399158", source="Orphanet:399158/ntbt"}
xref: ICD10CM:M87.8 {source="Orphanet:399158", source="Orphanet:399158/ntbt"}
xref: ICD10CM:M87.9 {source="DOID:10159", source="Orphanet:399158", source="Orphanet:399158/ntbt"}
xref: icd11.foundation:536467755 {source="Orphanet:399158", source="MONDO:equivalentTo"}
xref: ICD9:732.3 {source="DOID:10159"}
xref: ICD9:733.4 {source="EFO:0004259"}
xref: ICD9:733.41 {source="DOID:10159"}
xref: ICD9:733.42 {source="DOID:10159"}
xref: ICD9:733.43 {source="DOID:10159"}
xref: ICD9:733.44 {source="DOID:10159"}
xref: ICD9:733.49 {source="DOID:10159"}
xref: MEDGEN:45249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010020 {source="DOID:10159", source="EFO:0004259", source="MONDO:equivalentTo"}
xref: NCIT:C34404 {source="DOID:10159"}
xref: NCIT:C34841 {source="DOID:10159", source="EFO:0004259"}
xref: NCIT:C34880 {source="DOID:10159", source="MONDO:equivalentTo"}
xref: NCIT:C35226 {source="DOID:10159"}
xref: NCIT:C35476 {source="EFO:0004259", source="MONDO:equivalentTo"}
xref: NCIT:C35517 {source="DOID:10159"}
xref: NORD:1537 {source="MONDO:NORD"}
xref: Orphanet:399158 {source="MONDO:equivalentTo"}
xref: SCTID:156837008 {source="DOID:10159"}
xref: SCTID:17926002 {source="DOID:10159"}
xref: SCTID:203487006 {source="DOID:10159"}
xref: SCTID:240196003 {source="DOID:10159", source="MONDO:equivalentTo"}
xref: SCTID:29281007 {source="DOID:10159"}
xref: SCTID:34686004 {source="DOID:10159"}
xref: SCTID:397758007 {source="DOID:10159", source="EFO:0004259"}
xref: SCTID:398199007 {source="DOID:10159", source="EFO:0004259"}
xref: SCTID:43453000 {source="DOID:10159"}
xref: SCTID:62100001 {source="DOID:10159"}
xref: SCTID:83453001 {source="DOID:10159"}
xref: UMLS:C0029445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45249"}
is_a: MONDO:0005381 {source="MONDO:Redundant", source="Orphanet:399158"} ! bone disorder
relationship: disease_has_basis_in_disruption_of GO:0008015 ! blood circulation
relationship: disease_has_location UBERON:0002481 ! bone tissue
relationship: excluded_subClassOf MONDO:0015940 {source="Orphanet:399158", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare rheumatologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019684"} ! rare

[Term]
id: MONDO:0005381
name: bone disorder
def: "Diseases of bones." [MESH:D001847]
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "bone element disease" EXACT [MONDO:patterns/location]
synonym: "bone element disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of bone element" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bone element" EXACT []
synonym: "disorder of bone element" EXACT [MONDO:patterns/location_top]
synonym: "rare bone disease related to a common gene or pathway defect" RELATED [Orphanet:364803]
synonym: "skeletal disease" RELATED [DOID:0080001]
xref: DOID:0080001 {source="MONDO:equivalentTo", source="EFO:0004260"}
xref: EFO:0004260 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M80-M85 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M86-M90 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M89.9 {source="DOID:0080001"}
xref: ICD9:731.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001847 {source="DOID:0080001", source="MONDO:equivalentTo"}
xref: NANDO:2100291 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100293 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:364803 {source="MONDO:relatedTo"}
xref: SCTID:156814002 {source="DOID:0080001"}
xref: SCTID:203524000 {source="DOID:0080001"}
xref: SCTID:268126004 {source="DOID:0080001"}
xref: SCTID:274145000 {source="DOID:0080001"}
xref: SCTID:308147009 {source="DOID:0080001"}
xref: SCTID:76069003 {source="DOID:0080001", source="MONDO:equivalentTo"}
xref: UMLS:C0005940 {source="MEDGEN:14182", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005172 {source="EFO:0004260", source="MONDO:Redundant"} ! skeletal system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002481 ! bone tissue
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:0080001", source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder

[Term]
id: MONDO:0005382
name: bone Paget disease
def: "A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue." [NCIT:C3292]
subset: otar {source="MONDO:OTAR"}
synonym: "bone Paget disease" EXACT [NCIT:C3292]
synonym: "bone Paget's disease" EXACT [NCIT:C3292]
synonym: "familial Paget's disease of bone" RELATED [DOID:5408, MESH:C538098]
synonym: "osseous Paget's disease" EXACT [DOID:5408, NCIT:C3292]
synonym: "osteitis deformans" EXACT [DOID:5408, NCIT:C3292, Orphanet:280110]
synonym: "Paget disease of bone" EXACT [DOID:5408, NCIT:C3292]
synonym: "Paget's bone disease" EXACT [DOID:5408, MTH:547]
synonym: "Paget's disease" RELATED [NCIT:C3292]
synonym: "Paget's disease of bone" EXACT [NCIT:C3292]
synonym: "Paget's disease of the bone" EXACT [NCIT:C3292]
synonym: "Pagets disease (bone)" EXACT [NCIT:C3292]
xref: DOID:5408 {source="MONDO:equivalentTo"}
xref: EFO:0004261 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M88 {source="DOID:5408"}
xref: MEDGEN:10493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010001 {source="DOID:5408", source="EFO:0004261"}
xref: NCIT:C3292 {source="MONDO:equivalentTo", source="DOID:5408"}
xref: OMIMPS:167250 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:280110 {source="MONDO:equivalentObsolete", source="DOID:5408"}
xref: SCTID:156811005 {source="DOID:5408"}
xref: SCTID:156812003 {source="DOID:5408"}
xref: SCTID:203353000 {source="DOID:5408"}
xref: SCTID:203354006 {source="DOID:5408"}
xref: SCTID:2089002 {source="MONDO:equivalentTo", source="DOID:5408", source="EFO:0004261"}
xref: UMLS:C0029401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10493"}
is_a: MONDO:0002185 {source="DOID:5408"} ! hyperostosis
is_a: MONDO:0800486 {source="NCIT:C3292"} ! metabolic bone disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:167250"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7006" xsd:anyURI

[Term]
id: MONDO:0005383
name: panic disorder
def: "An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "panic anxiety syndrome" EXACT [DOID:594]
xref: DOID:594 {source="MONDO:equivalentTo", source="EFO:0004262"}
xref: EFO:0004262 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:300.01 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016584 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"}
xref: NCIT:C34890 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"}
xref: SCTID:191705007 {source="DOID:594"}
xref: SCTID:192400001 {source="DOID:594"}
xref: SCTID:268627007 {source="DOID:594"}
xref: SCTID:371631005 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"}
xref: UMLS:C0030319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14588"}
is_a: MONDO:0005618 {source="DOID:594", source="EFO:0004262", source="MESH:D016584", source="NCIT:C34890"} ! anxiety disorder
relationship: disease_has_feature HP:0001962 ! Palpitations

[Term]
id: MONDO:0005384
name: focal epilepsy
def: "A seizure caused by a localized disorder." [NCIT:P378]
comment: The updated term for partial epilepsy is now focal epilepsy, according to the International League Against Epilepsy Nosology and Definitions Taskforce [PMID:35503725, PMID:28276062].
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "focal epilepsy" EXACT CLINGEN_LABEL [DOID:2234, https://clinicalgenome.org/affiliation/40005/]
synonym: "localisation-related epilepsy" EXACT [DOID:2234]
synonym: "partial epilepsy" EXACT [DOID:2234]
xref: DOID:2234 {source="MONDO:equivalentTo", source="EFO:0004263"}
xref: EFO:0004263 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:345.50 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:41836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004828 {source="DOID:2234", source="MONDO:equivalentTo", source="EFO:0004263"}
xref: NCIT:C122812 {source="DOID:2234", source="MONDO:equivalentTo"}
xref: SCTID:155041001 {source="DOID:2234"}
xref: SCTID:155044009 {source="DOID:2234"}
xref: SCTID:193007004 {source="DOID:2234"}
xref: SCTID:230381009 {source="DOID:2234", source="MONDO:equivalentTo"}
xref: SCTID:29753000 {source="DOID:2234"}
xref: SCTID:67139004 {source="DOID:2234"}
xref: UMLS:C0014547 {source="MEDGEN:41836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="DOID:2234", source="EFO:0004263", source="MESH:D004828", source="NCIT:C122812"} ! epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5564" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/epilepsy/focal-epilepsy-groupoverview.html" xsd:anyURI

[Term]
id: MONDO:0005385
name: vascular disorder
def: "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome." [https://doi.org/10.1007/978-3-540-78785-3_7]
comment: The etiology of vasculopathy is generally unknown and the condition is frequently not pathologically proven. Vasculitis, on the other hand, is a more specific term and is defined as inflammation of the wall of a blood vessel. However, the term vasculopathy is also used for “vasculitis” that has not been pathologically established.
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of vasculature" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vasculature" EXACT []
synonym: "disorder of vasculature" EXACT [MONDO:patterns/location_top]
synonym: "vascular disorder" EXACT [NCIT:C35117]
synonym: "vascular tissue disease" EXACT [DOID:178]
synonym: "vasculature disease" EXACT [MONDO:patterns/location]
synonym: "vasculature disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vasculopathy" RELATED [https://doi.org/10.1007/978-3-540-78785-3_7, https://orcid.org/0000-0002-0736-9199]
xref: DOID:178 {source="MONDO:equivalentTo", source="EFO:0004264"}
xref: EFO:0004264 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I00-I99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I26-I28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I70-I79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I72.9 {source="DOID:178"}
xref: ICD10CM:I95-I99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:442.9 {source="DOID:178"}
xref: MEDGEN:22621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000783 {source="DOID:178"}
xref: MESH:D014652 {source="MONDO:equivalentTo", source="DOID:178", source="EFO:0004264"}
xref: MESH:D020758 {source="DOID:178"}
xref: MESH:D020760 {source="DOID:178"}
xref: NANDO:2100294 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26693 {source="MONDO:otherHierarchy", source="DOID:178"}
xref: NCIT:C35117 {source="MONDO:equivalentTo", source="DOID:178"}
xref: SCTID:134342004 {source="DOID:178"}
xref: SCTID:155425005 {source="DOID:178"}
xref: SCTID:155428007 {source="DOID:178"}
xref: SCTID:195292009 {source="DOID:178"}
xref: SCTID:27550009 {source="MONDO:equivalentTo", source="DOID:178"}
xref: SCTID:362727005 {source="DOID:178"}
xref: SCTID:371029002 {source="DOID:178"}
xref: SCTID:432119003 {source="DOID:178"}
xref: SCTID:85659009 {source="DOID:178"}
xref: UMLS:C0042373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22621"}
is_a: MONDO:0004995 {source="DOID:178", source="EFO:0004264", source="MESH:D014652", source="MONDO:Redundant", source="NCIT:C35117"} ! cardiovascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002049 ! vasculature
relationship: disease_has_location UBERON:0007798 {source="NCIT:C35117"} ! vascular system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3602" xsd:anyURI

[Term]
id: MONDO:0005386
name: peripheral arterial disease
def: "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest." [NCIT:C84496]
subset: otar {source="MONDO:OTAR"}
synonym: "pad" EXACT [NCIT:C84496]
synonym: "peripheral arterial disorder" EXACT [NCIT:C84496]
synonym: "peripheral artery disease" RELATED [DOID:0050830]
xref: DOID:0050830 {source="EFO:0004265", source="MONDO:equivalentTo"}
xref: EFO:0004265 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:443.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:352846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058729 {source="EFO:0004265", source="MONDO:equivalentTo"}
xref: NCIT:C84496 {source="MONDO:equivalentTo"}
xref: SCTID:399957001 {source="MONDO:equivalentTo"}
xref: UMLS:C1704436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:352846"}
is_a: MONDO:0000473 {source="DOID:0050830"} ! arterial disorder
is_a: MONDO:0005294 {source="EFO:0004265", source="MESH:D058729", source="NCIT:C84496"} ! peripheral vascular disease

[Term]
id: MONDO:0005387
name: primary ovarian failure
def: "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." [NCIT:C113352]
subset: otar {source="MONDO:OTAR"}
synonym: "female hypergonadotropic hypogonadism" RELATED []
synonym: "hypergonadotrophic ovarian failure" RELATED []
synonym: "hypergonadotropic hypogonadism" RELATED [DOID:5426]
synonym: "hypergonadotropic hypogonadism (female)" RELATED [NCIT:C113352]
synonym: "premature menopause" RELATED [DOID:5426]
synonym: "premature ovarian failure" RELATED [MESH:D016649, Orphanet:619]
synonym: "premature ovarian insufficiency" RELATED [DOID:5426]
synonym: "primary female hypogonadism" RELATED []
synonym: "primary ovarian failure" EXACT [NCIT:C113352]
synonym: "primary ovarian insufficiency" EXACT [DOID:5426, NCIT:C113352]
xref: DOID:5426 {source="EFO:0004266", source="MONDO:equivalentTo"}
xref: EFO:0004266 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E28.3 {source="MONDO:equivalentTo", source="DOID:5426"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:256.39
xref: MEDGEN:38820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016649 {source="EFO:0004266", source="MONDO:equivalentTo", source="DOID:5426"}
xref: NANDO:2100139 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C113352 {source="MONDO:equivalentTo", source="DOID:5426"}
xref: Orphanet:619 {source="MONDO:equivalentObsolete", source="DOID:5426"}
xref: SCTID:190545008 {source="DOID:5426"}
xref: SCTID:237788002 {source="EFO:0004266", source="DOID:5426"}
xref: SCTID:370999003 {source="MONDO:equivalentTo"}
xref: SCTID:39381003 {source="DOID:5426"}
xref: SCTID:65846009 {source="MONDO:equivalentTo", source="DOID:5426", source="MONDO:preferredExternal"}
xref: SCTID:80956002 {source="EFO:0004266"}
xref: UMLS:C0085215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38820"}
is_a: MONDO:0001889 {source="ICD10CM:E28.3", source="https://orcid.org/0000-0001-5208-3432"} ! ovarian dysfunction
is_a: MONDO:0005558 {source="DOID:5426", source="EFO:0004266/inferred", source="MESH:D016649", source="NCIT:C113352/inferred"} ! ovarian disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0005388
name: primary biliary cholangitis
def: "Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure." [Orphanet:186]
subset: gard_rare {source="GARD:7459", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1604"}
subset: ordo_disorder {source="Orphanet:186"}
subset: orphanet_rare {source="Orphanet:186"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "biliary cirrhosis, primary" RELATED [OMIMPS:109720]
synonym: "biliary liver cirrhosis" EXACT [DOID:12236]
synonym: "cholestatic cirrhosis" EXACT [DOID:12236]
synonym: "chronic non-suppurative destructive cholangitis" EXACT [NCIT:C27167]
synonym: "chronic nonsuppurative destructive cholangitis" EXACT [DOID:12236]
synonym: "familial primary biliary cirrhosis" RELATED [GARD:0007459]
synonym: "Hanot syndrome" EXACT [Orphanet:186]
synonym: "PBC" EXACT ABBREVIATION [Orphanet:186]
synonym: "primary Bilary cirrhosis (PBC)" EXACT [NCIT:C27167]
synonym: "primary biliary cirrhosis" EXACT [Orphanet:186]
xref: DOID:12236 {source="EFO:0004267", source="MONDO:equivalentTo"}
xref: EFO:1001486 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7459 {source="MONDO:GARD"}
xref: ICD10CM:K74.3 {source="Orphanet:186/e", source="Orphanet:186", source="DOID:12236"}
xref: ICD10CM:K74.5 {source="DOID:12236"}
xref: icd11.foundation:649193479 {source="MONDO:equivalentTo", source="Orphanet:186"}
xref: ICD9:571.6 {source="EFO:0004267", source="DOID:12236"}
xref: MedDRA:10004661 {source="Orphanet:186/e", source="Orphanet:186"}
xref: MedDRA:10019137 {source="Orphanet:186/e", source="Orphanet:186"}
xref: MEDGEN:3035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008105 {source="MONDO:equivalentTo", source="DOID:12236"}
xref: NANDO:1200439 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27167 {source="EFO:0004267", source="MONDO:equivalentTo", source="DOID:12236"}
xref: NCIT:C51225 {source="EFO:0004267", source="DOID:12236"}
xref: NORD:1604 {source="MONDO:NORD"}
xref: OMIMPS:109720 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:186 {source="MONDO:equivalentTo", source="DOID:12236"}
xref: SCTID:155815006 {source="DOID:12236"}
xref: SCTID:1761006 {source="EFO:0004267", source="DOID:12236"}
xref: SCTID:197311004 {source="DOID:12236"}
xref: SCTID:266540000 {source="DOID:12236"}
xref: SCTID:31712002 {source="EFO:0004267", source="MONDO:equivalentTo", source="DOID:12236"}
xref: UMLS:C0008312 {source="MEDGEN:3035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004868 {source="Orphanet:186"} ! biliary tract disorder
is_a: MONDO:0005155 {source="DOID:12236", source="EFO:0004267", source="MESH:D008105", source="NCIT:C27167/inferred"} ! cirrhosis of liver
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:109720"} ! inherited

[Term]
id: MONDO:0005389
name: obsolete sclerosing cholangitis
is_obsolete: true
replaced_by: MONDO:0018646

[Term]
id: MONDO:0005390
name: obsolete cardiac arrhythmia
is_obsolete: true
replaced_by: MONDO:0007263

[Term]
id: MONDO:0005391
name: restless legs syndrome
def: "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs." [NCIT:C84501]
subset: otar {source="MONDO:OTAR"}
synonym: "restless leg syndrome" EXACT [NCIT:C84501]
synonym: "RLS" BROAD ABBREVIATION [NCIT:C84501]
synonym: "WED" BROAD ABBREVIATION [DOID:0050425]
synonym: "Willis-Ekbom disease" EXACT [DOID:0050425]
synonym: "Wittmaack-Ekbom syndrome" EXACT [DOID:0050425]
xref: DOID:0050425 {source="MONDO:equivalentTo", source="EFO:0004270"}
xref: EFO:0004270 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G25.81 {source="DOID:0050425", source="MONDO:equivalentTo"}
xref: ICD9:333.94 {source="DOID:0050425", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:48427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012148 {source="DOID:0050425", source="MONDO:equivalentTo", source="EFO:0004270"}
xref: NCIT:C84501 {source="DOID:0050425", source="MONDO:equivalentTo"}
xref: SCTID:32914008 {source="DOID:0050425", source="MONDO:equivalentTo", source="EFO:0004270"}
xref: SCTID:393579008 {source="DOID:0050425"}
xref: UMLS:C0035258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48427"}
is_a: MONDO:0005071 {source="https://github.com/monarch-initiative/mondo/issues/468"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C84501", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0002602 {source="DOID:0050425", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder

[Term]
id: MONDO:0005392
name: scoliosis
def: "A congenital or acquired spinal deformity characterized by lateral curvature of the spine." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060249 {source="MONDO:equivalentTo", source="EFO:0004273"}
xref: EFO:0004273 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002650 {source="MONDO:otherHierarchy", source="DOID:0060249"}
xref: ICD10CM:M41 {source="MONDO:equivalentTo", source="DOID:0060249"}
xref: ICD10CM:M41.9 {source="DOID:0060249"}
xref: ICD9:737.43 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012600 {source="MONDO:equivalentTo", source="DOID:0060249", source="EFO:0004273"}
xref: NCIT:C78603 {source="MONDO:equivalentTo", source="DOID:0060249", source="EFO:0004273"}
xref: SCTID:20944008 {source="DOID:0060249"}
xref: SCTID:298382003 {source="MONDO:equivalentTo", source="DOID:0060249"}
xref: SCTID:36773001 {source="DOID:0060249"}
xref: UMLS:C0036439 {source="MEDGEN:11348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000836 {source="DOID:0060249"} ! disease of bone structure

[Term]
id: MONDO:0005393
name: gout
def: "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals." [NCIT:C34650]
subset: otar {source="MONDO:OTAR"}
synonym: "articular gout" EXACT [DOID:13189]
synonym: "chronic gout" BROAD [https://orcid.org/0000-0002-8169-9049, PMID:26889313]
synonym: "gout" EXACT [NCIT:C34650]
synonym: "gouty arthritis" EXACT [DOID:13189]
synonym: "gouty arthropathy" EXACT [DOID:13189, ICD9CM:274.0]
synonym: "tophaceous disease" BROAD [https://orcid.org/0000-0002-8169-9049, PMID:26889313]
synonym: "tophaceous gout" BROAD [https://orcid.org/0000-0002-8169-9049, PMID:26889313]
xref: DOID:13189 {source="MONDO:equivalentTo", source="EFO:0004274"}
xref: EFO:0004274 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M10 {source="MONDO:equivalentTo", source="DOID:13189"}
xref: ICD10CM:M10.9 {source="DOID:13189"}
xref: ICD9:274 {source="DOID:13189", source="EFO:0004274"}
xref: ICD9:274.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13189"}
xref: ICD9:274.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13189"}
xref: ICD9:274.9 {source="DOID:13189"}
xref: MEDGEN:42280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006073 {source="MONDO:equivalentTo", source="DOID:13189", source="EFO:0004274"}
xref: MESH:D015210 {source="DOID:13189"}
xref: NCIT:C34650 {source="MONDO:equivalentTo", source="DOID:13189", source="MONDO:exact-label-match", source="EFO:0004274"}
xref: SCTID:147966005 {source="DOID:13189"}
xref: SCTID:154745008 {source="DOID:13189"}
xref: SCTID:154746009 {source="DOID:13189"}
xref: SCTID:170733007 {source="DOID:13189"}
xref: SCTID:190827003 {source="DOID:13189"}
xref: SCTID:190828008 {source="MONDO:equivalentTo", source="DOID:13189"}
xref: SCTID:190844004 {source="DOID:13189"}
xref: SCTID:201661008 {source="DOID:13189"}
xref: SCTID:201662001 {source="DOID:13189"}
xref: SCTID:201672003 {source="DOID:13189"}
xref: SCTID:48440001 {source="DOID:13189"}
xref: SCTID:90560007 {source="DOID:13189", source="EFO:0004274"}
xref: UMLS:C0018099 {source="MEDGEN:42280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="MESH:D006073/inferred", source="NCIT:C34650"} ! metabolic disease
relationship: disease_has_feature HP:0001369 ! Arthritis
relationship: disease_has_feature MONDO:0003366 {source="MONDO:Wikidata"} ! hydrarthrosis
relationship: excluded_subClassOf MONDO:0005578 {source="DOID:13189", source="EFO:0004274", source="MESH:D006073", source="NCIT:C34650", source="https://orcid.org/0000-0001-5208-3432"} ! arthritic joint disease

[Term]
id: MONDO:0005394
name: brain infarction
def: "Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis." [MESH:D020520]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3454 {source="EFO:0004277", source="MONDO:equivalentTo"}
xref: EFO:0004277 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:148426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020520 {source="EFO:0004277", source="DOID:3454", source="MONDO:equivalentTo"}
xref: SCTID:230693009 {source="EFO:0004277"}
xref: SCTID:230698000 {source="EFO:0004277"}
xref: UMLS:C0751955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148426"}
is_a: MONDO:0011057 {source="DOID:3454", source="MESH:D020520/inferred"} ! cerebrovascular disorder
relationship: disease_has_location UBERON:0003499 {source="EFO:0000784"} ! brain blood vessel

[Term]
id: MONDO:0005395
name: movement disorder
def: "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." [NCIT:C116757]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "movement disease" EXACT [MONDO:0003151]
synonym: "movement disorder" EXACT CLINGEN_LABEL []
synonym: "movement disorders" EXACT [NCIT:C116757]
xref: DOID:480 {source="MONDO:equivalentTo"}
xref: EFO:0004280 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:333.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009069 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280"}
xref: NCIT:C116757 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280", source="MONDO:exact-label-match"}
xref: SCTID:60342002 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280"}
xref: UMLS:C0026650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10113"}
is_a: MONDO:0005071 {source="DOID:480/inferred", source="EFO:0004280", source="MESH:D009069/inferred", source="NCIT:C116757/inferred"} ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_major_feature HP:0100022 ! Abnormality of movement

[Term]
id: MONDO:0005396
name: thoracic aortic aneurysm
def: "An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:14004 {source="MONDO:equivalentTo", source="EFO:0004282"}
xref: EFO:0004282 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:56525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017545 {source="MONDO:equivalentTo", source="EFO:0004282", source="DOID:14004"}
xref: NCIT:C27001 {source="MONDO:otherHierarchy", source="EFO:0004282", source="DOID:14004"}
xref: Orphanet:91387 {source="MONDO:relatedTo", source="DOID:14004"}
xref: SCTID:155421001 {source="DOID:14004"}
xref: SCTID:433068007 {source="MONDO:equivalentTo", source="DOID:14004"}
xref: UMLS:C0162872 {source="MEDGEN:56525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005160 {source="DOID:14004", source="EFO:0004282"} ! aortic aneurysm

[Term]
id: MONDO:0005397
name: goiter
def: "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "goiter" EXACT [DOID:12176, MONDO:ambiguous]
synonym: "goiter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "goitre (disease)" EXACT OMO:0003005 []
synonym: "Thyromegaly" EXACT [NCIT:C26785]
xref: DOID:12176 {source="MONDO:equivalentTo", source="EFO:0004283"}
xref: EFO:0004283 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000853 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E04.9 {source="DOID:12176"}
xref: ICD9:240.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12176"}
xref: MEDGEN:42270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006042 {source="MONDO:equivalentTo", source="DOID:12176", source="EFO:0004283"}
xref: NCIT:C26785 {source="MONDO:equivalentTo", source="DOID:12176", source="EFO:0004283"}
xref: SCTID:190232008 {source="DOID:12176"}
xref: SCTID:190235005 {source="DOID:12176"}
xref: SCTID:237568003 {source="DOID:12176"}
xref: SCTID:267370001 {source="DOID:12176"}
xref: SCTID:3716002 {source="MONDO:equivalentTo", source="DOID:12176", source="EFO:0004283"}
xref: UMLS:C0018021 {source="MONDO:equivalentTo", source="MEDGEN:42270", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="DOID:12176", source="MESH:D006042", source="NCIT:C26785/inferred"} ! thyroid gland disorder
property_value: IAO:0000589 "goiter (disease)" xsd:string

[Term]
id: MONDO:0005398
name: upper aerodigestive tract neoplasm
def: "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" [MESH:D006258]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004284 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:164664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006258 {source="EFO:0004284"}
xref: SCTID:439361000 {source="MONDO:equivalentTo"}
xref: UMLS:C0887900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164664"}
is_a: MONDO:0005070 {source="EFO:0004284"} ! neoplasm

[Term]
id: MONDO:0005399
name: venous thromboembolism
def: "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." [NCIT:C99537]
subset: otar {source="MONDO:OTAR"}
synonym: "venous thromboembolism" EXACT [NCIT:C99537]
xref: EFO:0004286 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:348285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054556 {source="MONDO:equivalentTo", source="EFO:0004286"}
xref: NCIT:C99537 {source="MONDO:equivalentTo", source="EFO:0004286"}
xref: UMLS:C1861172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348285"}
is_a: MONDO:0005385 {source="EFO:0004286", source="MESH:D054556/inferred", source="NCIT:C99537/inferred"} ! vascular disorder
relationship: disease_has_feature HP:0001907 ! Thromboembolism

[Term]
id: MONDO:0005400
name: obsolete ventricular fibrillation
is_obsolete: true
replaced_by: MONDO:0000190

[Term]
id: MONDO:0005401
name: colonic neoplasm
def: "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C2953]
subset: otar {source="MONDO:OTAR"}
synonym: "colon neoplasm" EXACT [NCIT:C2953]
synonym: "colon neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "colon tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2953]
synonym: "colon tumour" EXACT OMO:0003005 []
synonym: "colonic neoplasm" EXACT [NCIT:C2953]
synonym: "colonic tumor" EXACT [NCIT:C2953]
synonym: "colonic tumour" EXACT OMO:0003005 []
synonym: "neoplasm of colon" EXACT [MONDO:patterns/neoplasm, NCIT:C2953]
synonym: "neoplasm of the colon" EXACT [NCIT:C2953]
synonym: "tumor of colon" EXACT [MONDO:patterns/neoplasm, NCIT:C2953]
synonym: "tumor of the colon" EXACT [NCIT:C2953]
synonym: "tumour of colon" EXACT OMO:0003005 []
synonym: "tumour of the colon" EXACT OMO:0003005 []
xref: EFO:0004288 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:3165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003110 {source="EFO:0004288", source="DOID:219", source="MONDO:equivalentTo"}
xref: NCIT:C2953 {source="EFO:0004288", source="MONDO:equivalentTo"}
xref: NCIT:C9242 {source="DOID:219"}
xref: UMLS:C0009375 {source="MEDGEN:3165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003409 {source="MESH:D003110/inferred", source="MONDO:Redundant"} ! colonic disorder
is_a: MONDO:0005335 {source="MESH:D003110", source="NCIT:C2953"} ! colorectal neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0005402
name: lymphoid leukemia
def: "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukemia, LYMPHOCYTIC, malignant" EXACT [NCIT:C7539]
synonym: "lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "lymphocytic leukemia" EXACT [NCIT:C7539]
synonym: "lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "lymphogenous leukemia" EXACT [NCIT:C7539]
synonym: "lymphoid leukaemia (disease)" EXACT OMO:0003005 []
synonym: "lymphoid leukemia" EXACT [MONDO:ambiguous, NCIT:C7539]
synonym: "lymphoid leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "subacute lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "subacute lymphoid leukemia" EXACT [DOID:10747]
xref: DOID:1037 {source="MONDO:equivalentTo"}
xref: DOID:10747 {source="EFO:0004289", source="MONDO:equivalentObsolete"}
xref: EFO:0004289 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0005526 {source="MONDO:otherHierarchy"}
xref: ICD9:204 {source="EFO:0004289"}
xref: ICD9:204.2 {source="DOID:10747"}
xref: ICD9:204.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:981-983 {source="NCIT:C7539"}
xref: ICDO:9820/3 {source="NCIT:C7539"}
xref: MEDGEN:9728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007945 {source="EFO:0004289", source="MONDO:equivalentTo"}
xref: NCIT:C7539 {source="EFO:0004289", source="MONDO:equivalentTo", source="DOID:1037"}
xref: SCTID:154590001 {source="DOID:10747"}
xref: SCTID:188725004 {source="EFO:0004289"}
xref: SCTID:188726003 {source="MONDO:equivalentTo", source="DOID:10747"}
xref: SCTID:190035004 {source="DOID:10747"}
xref: SCTID:32280000 {source="EFO:0004289"}
xref: SCTID:33560006 {source="DOID:10747"}
xref: SCTID:95274002 {source="DOID:10747"}
xref: UMLS:C0023448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9728"}
is_a: MONDO:0005059 {source="DOID:10747/inferred", source="EFO:0004289", source="MESH:D007945", source="MONDO:Redundant", source="NCIT:C7539"} ! leukemia
is_a: MONDO:0005157 {source="EFO:0004289/inferred", source="MONDO:Redundant", source="NCIT:C7539"} ! lymphoid neoplasm
relationship: disease_arises_from_structure CL:0000542 ! lymphocyte
property_value: IAO:0000589 "lymphoid leukemia (disease)" xsd:string

[Term]
id: MONDO:0005403
name: obsolete neonatal systemic lupus erthematosus
is_obsolete: true
replaced_by: MONDO:0018360

[Term]
id: MONDO:0005404
name: myalgic encephalomeyelitis/chronic fatigue syndrome
def: "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." [http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome]
subset: otar {source="MONDO:OTAR"}
synonym: "CFS" EXACT ABBREVIATION [Wikipedia:Chronic_fatigue_syndrome#Naming]
synonym: "chronic fatigue immune dysfunction syndrome" EXACT [Orphanet:1983]
synonym: "chronic fatigue syndrome" EXACT [DOID:8544]
synonym: "myalgic encephalitis" EXACT [DOID:8544, Wikipedia:Chronic_fatigue_syndrome#Naming]
synonym: "myalgic encephalomyelitis" EXACT [DOID:8544, Orphanet:1983, Wikipedia:Chronic_fatigue_syndrome#Naming]
synonym: "Postviral fatigue syndrome" EXACT [DOID:8544]
synonym: "systemic exertion intolerance disease" EXACT [Wikipedia:Chronic_fatigue_syndrome#Naming]
xref: DOID:8544 {source="EFO:0004540", source="MONDO:equivalentTo"}
xref: EFO:0004540 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G93.3 {source="DOID:8544"}
xref: ICD10CM:R53.82 {source="DOID:8544"}
xref: ICD9:780.71 {source="DOID:8544", source="EFO:0004540"}
xref: ICD9:780.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015673 {source="DOID:8544", source="MONDO:equivalentTo"}
xref: NCIT:C3037 {source="DOID:8544", source="EFO:0004540", source="MONDO:equivalentTo"}
xref: Orphanet:1983 {source="MONDO:equivalentObsolete"}
xref: SCTID:154989001 {source="DOID:8544"}
xref: SCTID:154991009 {source="DOID:8544"}
xref: SCTID:155062000 {source="DOID:8544"}
xref: SCTID:192735003 {source="DOID:8544"}
xref: SCTID:193054000 {source="DOID:8544"}
xref: SCTID:247372003 {source="DOID:8544"}
xref: SCTID:267683005 {source="DOID:8544"}
xref: SCTID:267684004 {source="DOID:8544"}
xref: SCTID:271798008 {source="DOID:8544"}
xref: SCTID:51771007 {source="DOID:8544", source="MONDO:equivalentTo"}
xref: SCTID:52702003 {source="DOID:8544", source="EFO:0004540"}
xref: UMLS:C0015674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5130"}
is_a: MONDO:0002254 {source="DOID:8544", source="MONDO:Redundant", source="NCIT:C3037/inferred"} ! syndromic disease
is_a: MONDO:0003939 {source="EFO:0004540", source="MESH:D015673", source="MONDO:Redundant"} ! muscle tissue disorder
is_a: MONDO:0005071 {source="ISBN-13:978-1-259-64403-0"} ! nervous system disorder
is_a: MONDO:0021094 {source="NCIT:C3037"} ! immunodeficiency disease
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_location UBERON:0014892 {source="EFO:0000784"} ! skeletal muscle organ, vertebrate

[Term]
id: MONDO:0005405
name: childhood onset asthma
def: "Asthma that starts in childhood." [EFO:0004591]
subset: otar {source="MONDO:OTAR"}
synonym: "asthma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "childhood asthma" EXACT [MONDO:design_pattern]
synonym: "paediatric asthma" EXACT OMO:0003005 []
synonym: "pediatric asthma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:0080815 {source="MONDO:equivalentTo"}
xref: MEDGEN:538550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:233678006 {source="MONDO:equivalentTo"}
xref: UMLS:C0264408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538550"}
is_a: MONDO:0004979 {source="EFO:0004591", source="MONDO:Redundant"} ! asthma
intersection_of: MONDO:0004979 ! asthma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0005406
name: gestational diabetes
def: "Carbohydrate intolerance first diagnosed during pregnancy." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "diabetes in pregnancy" EXACT [NCIT:C34942]
synonym: "GDM" EXACT ABBREVIATION [DOID:11714]
synonym: "gestational diabetes mellitus" EXACT [DOID:11714]
synonym: "maternal gestational diabetes mellitus" EXACT [DOID:11714]
xref: DOID:11714 {source="MONDO:equivalentTo", source="EFO:0004593"}
xref: EFO:0004593 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:O24.4 {source="DOID:11714"}
xref: MEDGEN:38815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016640 {source="DOID:11714", source="MONDO:equivalentTo"}
xref: NCIT:C34942 {source="DOID:11714", source="MONDO:equivalentTo", source="EFO:0004593"}
xref: SCTID:11687002 {source="DOID:11714", source="MONDO:equivalentTo", source="EFO:0004593"}
xref: SCTID:199232003 {source="DOID:11714"}
xref: SCTID:237629002 {source="DOID:11714"}
xref: SCTID:359964007 {source="DOID:11714"}
xref: SCTID:393568003 {source="DOID:11714"}
xref: UMLS:C0085207 {source="MEDGEN:38815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005015 {source="DOID:11714", source="EFO:0004593", source="MESH:D016640", source="MONDO:Redundant", source="NCIT:C34942"} ! diabetes mellitus
is_a: MONDO:0024575 {source="MESH:D016640", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! pregnancy disorder
intersection_of: MONDO:0005015 ! diabetes mellitus
intersection_of: MONDO:0024575 ! pregnancy disorder

[Term]
id: MONDO:0005407
name: childhood eosinophilic esophagitis
def: "An eosinophilic esophagitis that starts in childhood." [EFO:0004594]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "eosinophilic esophagitis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric eosinophilic esophagitis" EXACT OMO:0003005 []
synonym: "pediatric eosinophilic esophagitis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
is_a: MONDO:0005361 {source="EFO:0004594", source="MONDO:Redundant"} ! eosinophilic esophagitis
intersection_of: MONDO:0005361 ! eosinophilic esophagitis
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0005408
name: diabetes mellitus type 2 associated cataract
def: "Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism" [EFO:0004596]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004596 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:739998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1720171 {source="MEDGEN:739998", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="EFO:0004596", source="MONDO:Redundant"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: disease_arises_from_feature MONDO:0005148 ! type 2 diabetes mellitus

[Term]
id: MONDO:0005409
name: obsolete variant Creutzfeld Jacob disease
is_obsolete: true
replaced_by: MONDO:0007012

[Term]
id: MONDO:0005410
name: obsolete acute graft vs. host disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5146" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020546

[Term]
id: MONDO:0005411
name: gallbladder cancer
def: "A malignant neoplasm involving the gall bladder" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of gall bladder" EXACT [MONDO:patterns/cancer]
synonym: "gall bladder cancer" EXACT [MONDO:patterns/location]
synonym: "gallbladder Ca" EXACT [DOID:3121]
synonym: "gallbladder neoplasm" BROAD [DOID:3121, MTH:NOCODE]
synonym: "localised malignant gallbladder neoplasm" NARROW OMO:0003005 []
synonym: "localized malignant gallbladder neoplasm" NARROW [DOID:3121, NCIT:C35676]
synonym: "malignant gall bladder neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant gallbladder neoplasm" EXACT [NCIT:C7481]
synonym: "malignant gallbladder tumor" EXACT [NCIT:C7481]
synonym: "malignant gallbladder tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of gall bladder" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of gallbladder" EXACT [DOID:3121, NCIT:C7481]
synonym: "malignant neoplasm of the gallbladder" EXACT [NCIT:C7481]
synonym: "malignant tumor of gallbladder" EXACT [DOID:3121, NCIT:C7481]
synonym: "malignant tumor of the gallbladder" EXACT [DOID:3121, NCIT:C7481]
synonym: "malignant tumour of gallbladder" EXACT OMO:0003005 []
synonym: "malignant tumour of the gallbladder" EXACT OMO:0003005 []
synonym: "tumor of the gallbladder" BROAD [DOID:3121, NCIT:C3048]
synonym: "tumour of the gallbladder" BROAD OMO:0003005 []
xref: DOID:3121 {source="MONDO:equivalentTo", source="EFO:0004606"}
xref: ICD10CM:C23 {source="DOID:3121"}
xref: ICD9:156.0 {source="DOID:3121", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:156.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005706 {source="DOID:3121"}
xref: NCIT:C3048 {source="DOID:3121", source="EFO:0004606"}
xref: NCIT:C35676 {source="DOID:3121"}
xref: NCIT:C3844 {source="ONCOTREE:GBC"}
xref: NCIT:C7481 {source="DOID:3121", source="MONDO:equivalentTo"}
xref: ONCOTREE:GBC {source="MONDO:equivalentTo"}
xref: SCTID:126854002 {source="DOID:3121"}
xref: SCTID:154472004 {source="DOID:3121"}
xref: SCTID:187782001 {source="DOID:3121"}
xref: SCTID:254602009 {source="DOID:3121"}
xref: SCTID:269550003 {source="DOID:3121"}
xref: SCTID:363353009 {source="DOID:3121", source="MONDO:equivalentTo"}
xref: SCTID:93810008 {source="DOID:3121"}
xref: UMLS:C0153452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57784"}
is_a: MONDO:0005281 {source="DOID:3121", source="MONDO:Redundant", source="NCIT:C7481/inferred"} ! gallbladder disorder
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C7481"} ! gallbladder neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002110 ! gallbladder
relationship: excluded_subClassOf MONDO:0003060 {source="DOID:3121", source="https://orcid.org/0000-0001-5208-3432"} ! biliary tract cancer

[Term]
id: MONDO:0005412
name: duodenal ulcer
def: "An ulcer in the duodenal wall." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "curling Ulcer" EXACT [DOID:1724]
synonym: "curling's ulcers" EXACT [DOID:1724]
synonym: "duodenal ulcer (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "stress Ulcer" NARROW [DOID:1724, NCIT:C35263]
xref: DOID:1724 {source="MONDO:equivalentTo", source="EFO:0004607"}
xref: EFO:0004607 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002588 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K26 {source="MONDO:equivalentTo", source="DOID:1724"}
xref: ICD9:532 {source="DOID:1724", source="EFO:0004607"}
xref: MEDGEN:41670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004381 {source="MONDO:equivalentTo", source="DOID:1724", source="EFO:0004607"}
xref: NCIT:C26755 {source="MONDO:equivalentTo", source="DOID:1724", source="EFO:0004607"}
xref: SCTID:155691003 {source="DOID:1724"}
xref: SCTID:155700000 {source="DOID:1724"}
xref: SCTID:196651004 {source="DOID:1724"}
xref: SCTID:196669008 {source="DOID:1724"}
xref: SCTID:196672001 {source="DOID:1724"}
xref: SCTID:196679005 {source="DOID:1724"}
xref: SCTID:196680008 {source="DOID:1724"}
xref: SCTID:235703009 {source="DOID:1724"}
xref: SCTID:367474008 {source="DOID:1724"}
xref: SCTID:39755000 {source="MONDO:equivalentTo", source="DOID:1724"}
xref: SCTID:51868009 {source="DOID:1724"}
xref: SCTID:553009 {source="DOID:1724"}
xref: UMLS:C0013295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41670"}
is_a: MONDO:0002866 {source="MESH:D004381/inferred", source="MONDO:Redundant"} ! duodenal disorder
is_a: MONDO:0004247 {source="DOID:1724", source="MESH:D004381", source="NCIT:C26755"} ! peptic ulcer disease
relationship: disease_has_location UBERON:0002114 {source="EFO:0000784"} ! duodenum
property_value: IAO:0000589 "duodenal ulcer (disease)" xsd:string

[Term]
id: MONDO:0005413
name: cystic fibrosis associated meconium ileus
def: "Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis." [EFO:0004608]
subset: otar {source="MONDO:OTAR"}
synonym: "cystic fibrosis associated meconium ileum" EXACT [EFO:0004608]
xref: EFO:0004608 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:639765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0546982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:639765"}
is_a: MONDO:0054868 {source="https://github.com/EBISPOT/efo/issues/553"} ! meconium ileus
is_a: MONDO:0100086 {source="https://github.com/monarch-initiative/mondo/issues/685"} ! perinatal disease
relationship: disease_has_location UBERON:0000160 {source="EFO:0000784"} ! intestine
relationship: excluded_subClassOf MONDO:0009061 {source="EFO:0004608", source="https://orcid.org/0000-0001-5208-3432"} ! cystic fibrosis

[Term]
id: MONDO:0005414
name: treatment-refractory schizophrenia
def: "Schizophrenia which does not respond to commonly used treatments." [EFO:0004609]
subset: otar {source="MONDO:OTAR"}
synonym: "refractory schizophrenia" EXACT []
synonym: "treatment-refractory schizophrenia" EXACT [PMID:22034144]
synonym: "TRS" BROAD ABBREVIATION [PMID:22034144]
xref: EFO:0004609 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1786789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3544321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786789"}
is_a: MONDO:0005090 {source="EFO:0004609"} ! schizophrenia
intersection_of: MONDO:0005090 ! schizophrenia
intersection_of: has_characteristic HP:0031375 ! Refractory

[Term]
id: MONDO:0005415
name: obsolete acute lung injury
is_obsolete: true
replaced_by: MONDO:0015796

[Term]
id: MONDO:0005416
name: osteoarthritis, knee
def: "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)" [MESH:D020370]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004616 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:98371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020370 {source="MONDO:equivalentTo", source="EFO:0004616"}
xref: UMLS:C0409959 {source="MEDGEN:98371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005178 {source="EFO:0004616", source="MESH:D020370"} ! osteoarthritis

[Term]
id: MONDO:0005417
name: wet macular degeneration
def: "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." [MESH:D057135]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "exudative senile macular degeneration of retina" EXACT [DOID:10873, ICD9CM:362.52]
synonym: "Kuhnt-Junius degeneration" RELATED [DOID:10873]
synonym: "neovascular age-related macular degeneration" EXACT [DOID:10873]
synonym: "Senile macular degeneration, wet" EXACT [DOID:10873]
synonym: "wet age related macular degeneration" EXACT [MedDRA:10075568, PMID:16178119]
synonym: "wet AMD" EXACT [MedDRA:10075568, PMID:16178119]
synonym: "wet ARMD" EXACT [MedDRA:10075568, PMID:16178119]
synonym: "wet senile macular retinal degeneration" EXACT [DOID:10873]
xref: DOID:10873 {source="EFO:0004683", source="MONDO:equivalentTo"}
xref: EFO:0004683 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H35.32 {source="DOID:10873"}
xref: ICD9:362.52 {source="DOID:10873", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:389185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057135 {source="EFO:0004683", source="MONDO:equivalentTo"}
xref: SCTID:11290001 {source="DOID:10873"}
xref: SCTID:16018000 {source="DOID:10873"}
xref: SCTID:414173003 {source="DOID:10873", source="MONDO:equivalentTo"}
xref: UMLS:C2237660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:389185"}
is_a: MONDO:0005150 {source="EFO:0004683"} ! age-related macular degeneration

[Term]
id: MONDO:0005418
name: non-compaction cardiomyopathy
def: "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [EFO:0004686]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0004686 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1843481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4324548 {source="MEDGEN:1843481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004994 {source="EFO:0004686"} ! cardiomyopathy

[Term]
id: MONDO:0005419
name: methamphetamine dependence
def: "A drug dependence that is a psychological dependency on the regular use of methamphetamine." [EFO:0004701]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004701 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:735816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1533217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:735816"}
is_a: MONDO:0005303 {source="EFO:0004701"} ! drug dependence

[Term]
id: MONDO:0005420
name: hypothyroidism
def: "Abnormally low levels of thyroid hormone." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hypothyroid" RELATED []
synonym: "hypothyroidism" EXACT []
synonym: "thyroid deficiency" EXACT [DOID:1459]
synonym: "thyroid insufficiency" EXACT [DOID:1459]
synonym: "underactive thyroid" EXACT [NCIT:C26800]
xref: DOID:1459 {source="MONDO:equivalentTo", source="EFO:0004705"}
xref: EFO:0004705 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E03.9 {source="DOID:1459"}
xref: ICD9:244.9 {source="DOID:1459"}
xref: MEDGEN:6991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007037 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"}
xref: NANDO:2100120 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26800 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"}
xref: SCTID:154660000 {source="DOID:1459"}
xref: SCTID:190274003 {source="DOID:1459"}
xref: SCTID:190290003 {source="DOID:1459"}
xref: SCTID:237572004 {source="DOID:1459"}
xref: SCTID:267377003 {source="DOID:1459"}
xref: SCTID:267465007 {source="DOID:1459"}
xref: SCTID:40930008 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"}
xref: UMLS:C0020676 {source="MEDGEN:6991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="DOID:1459", source="MESH:D007037", source="NCIT:C26800/inferred"} ! thyroid gland disorder
relationship: disease_has_location UBERON:0002046 {source="EFO:0000784"} ! thyroid gland

[Term]
id: MONDO:0005421
name: obsolete infantile hypertrophic pyloric stenosis
is_obsolete: true
replaced_by: MONDO:0001560

[Term]
id: MONDO:0005422
name: obsolete nodular sclerosis Hodgkin lymphoma
def: "OBSOLETE. A distinct, highly heritable Hodgkin lymphoma subtype." [EFO:0004708]
is_obsolete: true
replaced_by: MONDO:0004665

[Term]
id: MONDO:0005423
name: obsolete pelvic organ prolapse
is_obsolete: true
replaced_by: MONDO:0000082

[Term]
id: MONDO:0005424
name: elephantiasis
def: "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "elephantiasis NOS" RELATED EXCLUDE [DOID:4976]
xref: DOID:4976 {source="MONDO:equivalentTo", source="EFO:0004711"}
xref: EFO:0004711 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:8582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004604 {source="DOID:4976", source="MONDO:equivalentTo", source="EFO:0004711"}
xref: NCIT:C34569 {source="DOID:4976", source="MONDO:otherHierarchy", source="EFO:0004711"}
xref: SCTID:155485008 {source="DOID:4976"}
xref: SCTID:240820001 {source="MONDO:relatedTo", source="DOID:4976"}
xref: SCTID:266334008 {source="DOID:4976"}
xref: UMLS:C0013882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8582"}
is_a: MONDO:0019297 {source="DOID:4976", source="MESH:D004604"} ! lymphedema

[Term]
id: MONDO:0005425
name: podoconiosis
def: "A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils." [Wikipedia:Podoconiosis]
subset: otar {source="MONDO:OTAR"}
synonym: "elephantiasis from soil" EXACT []
synonym: "non-filarial elephantiasis" EXACT [Wikipedia:Podoconiosis]
synonym: "nonfilarial elephantiasis" EXACT [Wikipedia:Podoconiosis]
synonym: "soil elephantiasis" EXACT [MONDO:patterns/environmental_stimulus]
xref: DOID:0050138 {source="EFO:0004712", source="MONDO:equivalentTo"}
xref: EFO:0004712 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:457.1
xref: MEDGEN:473377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:47595008 {source="EFO:0004712", source="MONDO:equivalentTo"}
xref: UMLS:C1280469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473377"}
is_a: MONDO:0005424 {source="DOID:0050138", source="EFO:0004712", source="MONDO:Redundant"} ! elephantiasis
intersection_of: MONDO:0005424 ! elephantiasis
intersection_of: realized_in_response_to_stimulus ENVO:00001998 ! soil

[Term]
id: MONDO:0005426
name: MRI defined brain infarct
def: "An infarct detected by MRI and not determined to be clinically significant" [EFO:0004715]
comment: This term represents a finding not a disease, it may be obsoleted in future. Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005394 {source="EFO:0004715"} ! brain infarction
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005427
name: obsolete vasuclar dementia
is_obsolete: true
replaced_by: MONDO:0004648

[Term]
id: MONDO:0005428
name: obsolete pemphigus vulgaris
is_obsolete: true
replaced_by: MONDO:0008219

[Term]
id: MONDO:0005429
name: prion disease
def: "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal." [NCIT:C128346-modified]
comment: Editor note: check relationship to spongiform encephalopathy NCIT:C27585
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "prion disease pathway" EXACT [DOID:649, NCIT:C38853]
synonym: "prion induced disorder" EXACT [DOID:649]
synonym: "prion protein disease" EXACT [DOID:649]
synonym: "spongiform encephalopathy" EXACT [DOID:649, NCIT:C27585]
synonym: "transmissible spongiform encephalopathy" RELATED EXCLUDE [DOID:649]
xref: DOID:649 {source="EFO:0004720", source="MONDO:equivalentTo"}
xref: EFO:0004720 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A80-A89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:A81.9 {source="DOID:649"}
xref: ICD9:046.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017096 {source="MONDO:equivalentTo", source="DOID:649"}
xref: NANDO:1200186 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C128346 {source="MONDO:equivalentTo"}
xref: NCIT:C27585 {source="DOID:649"}
xref: SCTID:193172009 {source="DOID:649"}
xref: SCTID:20484008 {source="EFO:0004720", source="DOID:649"}
xref: SCTID:230284004 {source="MONDO:equivalentTo", source="DOID:649"}
xref: UMLS:C0162534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56445"}
is_a: MONDO:0005560 {source="DOID:649"} ! brain disorder
is_a: MONDO:0024619 {source="MESH:D017096", source="NCIT:C128346"} ! central nervous system infectious disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: realized_in_response_to_stimulus http://identifiers.org/hgnc/9449 ! PRNP
relationship: realized_in NCIT:C17214 ! Disease Transmission

[Term]
id: MONDO:0005430
name: early onset hypertension
def: "A form of hypertension with early onset relative to normal range for a given population." [EFO:0004772]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004772 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005044 {source="EFO:0004772"} ! hypertensive disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005431
name: obsolete toxic epidermal necrolysis
is_obsolete: true
replaced_by: MONDO:0019810

[Term]
id: MONDO:0005432
name: alcohol and nicotine codependence
def: "A drug dependence that is the physiological result of being addicted to alcohol and nicotine." [EFO:0004776]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005303 {source="EFO:0004776"} ! drug dependence
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005433
name: alcohol withdrawal
subset: otar {source="MONDO:OTAR"}
synonym: "alcohol withdrawal syndrome" EXACT []
xref: EFO:0004777 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:291.81 {source="MONDO:equivalentTo", source="EFO:0004777", source="MONDO:i2s"}
xref: MEDGEN:536543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:191480000 {source="MONDO:equivalentTo", source="EFO:0004777"}
xref: UMLS:C0236663 {source="MEDGEN:536543", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005567 {source="https://orcid.org/0000-0002-6601-2165"} ! substance withdrawal syndrome
relationship: excluded_subClassOf MONDO:0005303 {source="EFO:0004777", source="https://orcid.org/0000-0001-5208-3432"} ! drug dependence

[Term]
id: MONDO:0005434
name: skin sensitivity to sun
def: "The response of human skin to sun exposure." [EFO:0004795]
comment: Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0004795 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:87601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0349506 {source="MEDGEN:87601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006597 {source="EFO:0004795"} ! photosensitivity disease

[Term]
id: MONDO:0005435
name: anti-neutrophil antibody associated vasculitis
def: "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." [EFO:0004826]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
xref: EFO:0004826 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0007179 {source="EFO:0004826"} ! autoimmune disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005436
name: postoperative ventricular dysfunction
def: "Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." [EFO:0004889]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005010 {source="EFO:0004889", source="EFO:0004889/inferred"} ! coronary artery disorder
relationship: disease_has_location UBERON:0002082 {source="EFO:0000784"} ! cardiac ventricle
relationship: disease_has_location UBERON:0004535 {source="EFO:0000784"} ! cardiovascular system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005437
name: testicular dysgenesis syndrome
def: "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." [EFO:0004893]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0004893 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:754060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200383 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:445338005 {source="EFO:0004893", source="MONDO:equivalentTo"}
xref: UMLS:C2919755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:754060"}
is_a: MONDO:0001967 ! gonadal dysgenesis
relationship: disease_has_location UBERON:0000473 {source="EFO:0000784"} ! testis

[Term]
id: MONDO:0005438
name: metastatic malignant neoplasm in the lymph nodes
def: "The spread of a malignant neoplasm to the lymph nodes." [NCIT:C4904]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Metastases to lymph nodes" EXACT [NCIT:C4904]
synonym: "metastasis to lymph node" EXACT [NCIT:C4904]
synonym: "metastatic malignant neoplasm to the lymph nodes" EXACT [NCIT:C4904]
synonym: "metastatic neoplasm to the lymph node" EXACT [NCIT:C4904]
synonym: "metastatic tumor to lymph node" EXACT [NCIT:C4904]
synonym: "metastatic tumour to lymph node" EXACT OMO:0003005 []
xref: EFO:0004906 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:151947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4904 {source="MONDO:equivalentTo", source="EFO:0004906"}
xref: UMLS:C0686619 {source="MEDGEN:151947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001082 {source="MONDO:Redundant", source="NCIT:C4904"} ! lymph node cancer
intersection_of: MONDO:0001082 ! lymph node cancer
intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic
relationship: disease_has_location UBERON:0000029 {source="EFO:0000784"} ! lymph node
relationship: excluded_subClassOf MONDO:0004993 {source="EFO:0004906", source="https://orcid.org/0000-0001-5208-3432"} ! carcinoma

[Term]
id: MONDO:0005439
name: familial hypercholesterolemia
def: "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." [NCIT:C34704]
comment: Editor note: TODO check xrefs
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hyperbetalipoproteinaemia" EXACT [DOID:13810]
synonym: "familial hypercholesteremia" EXACT [DOID:13810]
synonym: "Fredrickson type IIa hyperlipoproteinemia" EXACT [DOID:13810]
synonym: "Fredrickson type IIa lipidaemia" EXACT [DOID:13810]
synonym: "hyperbetalipoproteinemia" EXACT [DOID:13810]
synonym: "hyperlipoproteinemia type II" EXACT [NCIT:C34704]
synonym: "type II hyperlipidemia" RELATED [DOID:13810, NCIT:C34704]
xref: DOID:13810 {source="MONDO:equivalentTo", source="EFO:0004911"}
xref: EFO:0004911 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E78.0 {source="DOID:13810"}
xref: ICD9:V19.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006938 {source="DOID:13810", source="EFO:0004911"}
xref: NANDO:2200602 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34704 {source="DOID:13810", source="MONDO:equivalentTo"}
xref: OMIMPS:143890 {source="MONDO:equivalentTo"}
xref: Orphanet:406 {source="DOID:13810"}
xref: Orphanet:477811 {source="MONDO:relatedTo"}
xref: SCTID:190772003 {source="DOID:13810"}
xref: SCTID:190773008 {source="DOID:13810", source="MONDO:equivalentTo"}
xref: SCTID:190775001 {source="DOID:13810"}
xref: SCTID:190776000 {source="DOID:13810"}
xref: SCTID:31654005 {source="DOID:13810"}
xref: SCTID:389985001 {source="DOID:13810"}
xref: SCTID:398036000 {source="DOID:13810", source="EFO:0004911"}
xref: UMLS:C0020445 {source="MONDO:equivalentTo", source="MEDGEN:5688", source="MONDO:MEDGEN"}
is_a: MONDO:0037748 {source="NCIT:C34704"} ! hyperlipoproteinemia
intersection_of: MONDO:0001336 ! familial hyperlipidemia
intersection_of: disease_has_feature HP:0003124 ! Hypercholesterolemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:143890"} ! inherited

[Term]
id: MONDO:0005440
name: embryonal carcinoma
def: "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." [NCIT:C3752]
comment: Editor note: TODO check classification w.r.t carcinoma
subset: gard_rare {source="GARD:5140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180226"}
subset: orphanet_rare {source="Orphanet:180226"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma, embryonal, malignant" EXACT [NCIT:C3752]
synonym: "embryonal carcinoma" EXACT [MONDO:0015862, NCIT:C3752]
synonym: "primary extragonadal embryonal carcinoma" NARROW [DOID:3308]
xref: DOID:3308 {source="MONDO:equivalentTo", source="EFO:0004986"}
xref: EFO:0004986 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5140 {source="MONDO:GARD"}
xref: ICD10CM:C22.7 {source="Orphanet:180226/btnt", source="Orphanet:180226"}
xref: ICD10CM:C71.9 {source="Orphanet:180226/btnt", source="Orphanet:180226"}
xref: ICDO:9070/3 {source="NCIT:C3752"}
xref: MEDGEN:61653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018236 {source="Orphanet:180226/e", source="MONDO:equivalentTo", source="DOID:3308", source="Orphanet:180226"}
xref: NANDO:2200067 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3752 {source="MONDO:equivalentTo", source="EFO:0004986", source="DOID:3308"}
xref: NCIT:C6341 {source="ONCOTREE:EMBCA"}
xref: NCIT:C8880 {source="DOID:3308"}
xref: ONCOTREE:EMBCA {source="MONDO:equivalentTo"}
xref: Orphanet:180226 {source="MONDO:equivalentTo"}
xref: SCTID:189843003 {source="DOID:3308"}
xref: SCTID:28047004 {source="EFO:0004986", source="DOID:3308"}
xref: UMLS:C0206659 {source="MEDGEN:61653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006290 {source="NCIT:C3752"} ! malignant germ cell tumor
is_a: MONDO:0020539 {source="Orphanet:180226"} ! extragonadal non-dysgerminomatous germ cell tumor
is_a: MONDO:0021656 {source="NCIT:C3752", source="ONCOTREE:EMBCA"} ! nongerminomatous germ cell tumor
relationship: excluded_subClassOf MONDO:0004993 {source="EFO:0004986", source="https://orcid.org/0000-0001-5208-3432"} ! carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma" xsd:anyURI {source="GARD:0005140"}

[Term]
id: MONDO:0005441
name: otitis media
def: "Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever." [NCIT:C34885]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of middle ear" EXACT []
synonym: "medial otitis" EXACT [NCIT:C34885]
synonym: "middle Ear Inflammation" EXACT [NCIT:C34885]
synonym: "middle ear inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site, NCIT:C34885]
synonym: "otitis Media" EXACT [NCIT:C34885]
synonym: "otitis media (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10754 {source="EFO:0004992", source="MONDO:equivalentTo"}
xref: EFO:0004992 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000388 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H66.9 {source="DOID:10754"}
xref: ICD10CM:H66.90 {source="DOID:10754"}
xref: ICD9:382.9 {source="DOID:10754", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:45253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010033 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"}
xref: NCIT:C34885 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"}
xref: SCTID:155222006 {source="DOID:10754"}
xref: SCTID:194291009 {source="DOID:10754"}
xref: SCTID:267669008 {source="DOID:10754"}
xref: SCTID:65363002 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"}
xref: UMLS:C0029882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45253"}
is_a: MONDO:0003276 {source="DOID:10754", source="MONDO:Redundant", source="NCIT:C34885"} ! middle ear disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001756 ! middle ear
property_value: IAO:0000589 "otitis media (disease)" xsd:string

[Term]
id: MONDO:0005442
name: obsolete type 1 diabetes nephropathy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3277" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005016

[Term]
id: MONDO:0005443
name: obsolete type 2 diabetes nephropathy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3277" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005016

[Term]
id: MONDO:0005444
name: obsolete leishmaniasis
is_obsolete: true
replaced_by: MONDO:0011989

[Term]
id: MONDO:0005445
name: visceral leishmaniasis
def: "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi." [https://www.who.int/leishmaniasis/visceral_leishmaniasis/en/, Wikipedia:Visceral_leishmaniasis]
comment: Editor note: split out susceptibility/PS
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection by visceral leishmaniasis" EXACT [DOID:9146]
synonym: "kala-azar" EXACT [DOID:9146, NCIT:C34771]
synonym: "kala-azar susceptibility" RELATED [OMIMPS:608207]
synonym: "kala-azar, susceptibility to" RELATED [OMIMPS:608207]
synonym: "viscus leishmaniasis" EXACT [MONDO:patterns/location]
xref: DOID:9146 {source="MONDO:equivalentTo", source="EFO:0005045"}
xref: EFO:0005045 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B55.0 {source="MONDO:equivalentTo", source="DOID:9146"}
xref: ICD9:085.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9146"}
xref: MEDGEN:44098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007898 {source="MONDO:equivalentTo", source="DOID:9146"}
xref: NCIT:C34771 {source="MONDO:equivalentTo", source="DOID:9146"}
xref: OMIMPS:608207 {source="MONDO:equivalentTo"}
xref: SCTID:186803007 {source="MONDO:equivalentTo", source="DOID:9146", source="EFO:0005045"}
xref: SCTID:48115004 {source="DOID:9146"}
xref: UMLS:C0023290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44098"}
is_a: MONDO:0011989 {source="DOID:9146", source="EFO:0005045", source="ICD10CM:B55.0", source="MESH:D007898", source="MONDO:Redundant", source="NCIT:C34771"} ! leishmaniasis
relationship: disease_has_feature HP:0001824 ! Weight loss
relationship: disease_has_location UBERON:0002075 ! viscus
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608207"} ! inherited

[Term]
id: MONDO:0005446
name: cutaneous leishmaniasis
def: "Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Asian desert cutaneous leishmaniasis" EXACT [DOID:9111, NCIT:C34770]
synonym: "diffuse cutaneous leishmaniasis" RELATED EXCLUDE [DOID:9111]
synonym: "leproid leishmaniasis" EXACT [DOID:9111]
synonym: "zone of skin leishmaniasis" EXACT [MONDO:patterns/location]
xref: DOID:9111 {source="EFO:0005046", source="MONDO:equivalentTo"}
xref: EFO:0005046 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B55.1 {source="MONDO:equivalentTo", source="DOID:9111"}
xref: ICD9:085.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016773 {source="MONDO:equivalentTo", source="DOID:9111"}
xref: NCIT:C34768 {source="EFO:0005046", source="MONDO:equivalentTo", source="DOID:9111"}
xref: NCIT:C34770 {source="MONDO:equivalentTo"}
xref: SCTID:186807008 {source="MONDO:equivalentTo"}
xref: SCTID:240637006 {source="EFO:0005046", source="DOID:9111"}
xref: UMLS:C0023283 {source="MEDGEN:9715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011989 {source="DOID:9111", source="EFO:0005046", source="ICD10CM:B55.1", source="MESH:D016773", source="MONDO:Redundant", source="NCIT:C34770/inferred"} ! leishmaniasis
intersection_of: MONDO:0011989 ! leishmaniasis
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0005447
name: testicular cancer
def: "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma." [NCIT:C7251]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of testis" EXACT [MONDO:patterns/cancer]
synonym: "childhood neoplasm of the testis" NARROW EXCLUDE [DOID:2998]
synonym: "malignant neoplasm of testis" EXACT [MONDO:patterns/cancer, NCIT:C7251]
synonym: "malignant neoplasm of the testis" EXACT [NCIT:C7251]
synonym: "malignant testicular neoplasm" EXACT [NCIT:C7251]
synonym: "malignant testicular tumor" EXACT [NCIT:C7251]
synonym: "malignant testicular tumour" EXACT OMO:0003005 []
synonym: "malignant testis neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of testis" EXACT [NCIT:C7251]
synonym: "malignant tumor of the testis" EXACT [NCIT:C7251]
synonym: "malignant tumour of testis" EXACT OMO:0003005 []
synonym: "malignant tumour of the testis" EXACT OMO:0003005 []
synonym: "neoplasm of testis" RELATED EXCLUDE [DOID:2998]
synonym: "paediatric testicular neoplasm" RELATED OMO:0003005 []
synonym: "pediatric testicular neoplasm" RELATED EXCLUDE [DOID:2998, NCIT:C5053]
synonym: "testicular tumor" BROAD [DOID:2998, NCIT:C3404]
synonym: "testicular tumour" BROAD OMO:0003005 []
synonym: "testis cancer" EXACT [DOID:2998, MONDO:patterns/location]
synonym: "testis neoplasm" BROAD [DOID:2998]
xref: DOID:2998 {source="MONDO:equivalentTo", source="EFO:0005088"}
xref: EFO:0005088 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C62 {source="DOID:2998"}
xref: ICD10CM:C62.9 {source="DOID:2998"}
xref: ICD10CM:C62.90 {source="DOID:2998"}
xref: ICD9:186 {source="DOID:2998"}
xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013736 {source="MONDO:equivalentTo", source="DOID:2998"}
xref: NCIT:C3404 {source="DOID:2998"}
xref: NCIT:C5053 {source="DOID:2998", source="MONDO:directSiblingOf"}
xref: NCIT:C7251 {source="MONDO:equivalentTo", source="DOID:2998"}
xref: SCTID:126900000 {source="DOID:2998"}
xref: SCTID:188228003 {source="DOID:2998"}
xref: SCTID:236778008 {source="DOID:2998"}
xref: SCTID:269472003 {source="DOID:2998"}
xref: SCTID:363449006 {source="MONDO:equivalentTo", source="DOID:2998"}
xref: SCTID:94087009 {source="DOID:2998"}
xref: UMLS:C0153594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56313"}
is_a: MONDO:0002329 {source="DOID:2998", source="MESH:D013736", source="MONDO:Redundant", source="NCIT:C7251/inferred"} ! testicular disorder
is_a: MONDO:0005836 {source="DOID:2998", source="MESH:D013736", source="MONDO:Redundant", source="NCIT:C7251"} ! male reproductive organ cancer
is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C7251"} ! neoplasm of testis
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0005448
name: hepatitis C induced liver cirrhosis
def: "Liver injury resulting from hepatitis C infection." [EFO:0005129]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005129 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1674707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4763867 {source="MEDGEN:1674707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005155 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! cirrhosis of liver
intersection_of: MONDO:0005155 ! cirrhosis of liver
intersection_of: disease_arises_from_feature MONDO:0005231 ! hepatitis C virus infection

[Term]
id: MONDO:0005449
name: conduction system disorder
def: "A disease involving the conducting system of heart." [MONDO:patterns/location_top]
subset: otar {source="MONDO:OTAR"}
synonym: "conducting system of heart disease" EXACT [MONDO:patterns/location]
synonym: "conducting system of heart disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of conducting system of heart" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/location_top]
synonym: "disease or disorder of conducting system of heart" EXACT []
synonym: "disorder of conducting system of heart" EXACT [MONDO:patterns/location_top]
xref: EFO:0005137 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:412576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2748542 {source="MEDGEN:412576", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002350 ! conducting system of heart

[Term]
id: MONDO:0005450
name: obsolete autoimmune disease
is_obsolete: true
replaced_by: MONDO:0007179

[Term]
id: MONDO:0005451
name: eating disorder
def: "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake." [NCIT:C89332]
subset: otar {source="MONDO:OTAR"}
synonym: "eating disorder" EXACT [NCIT:C89332]
synonym: "feeding and eating disorder" EXACT [ISBN-13:978-1-259-64403-0]
xref: DOID:8670 {source="EFO:0005203", source="MONDO:equivalentTo"}
xref: EFO:0005203 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F50 {source="DOID:8670"}
xref: ICD10CM:F50-F59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F50.9 {source="DOID:8670"}
xref: ICD9:307.50 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8670"}
xref: ICD9:307.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C89332 {source="EFO:0005203", source="MONDO:equivalentTo", source="DOID:8670", source="MONDO:exact-label-match"}
xref: SCTID:192444003 {source="DOID:8670"}
xref: SCTID:192452000 {source="DOID:8670"}
xref: SCTID:72366004 {source="EFO:0005203", source="MONDO:equivalentTo", source="DOID:8670"}
xref: UMLS:C0013473 {source="MONDO:equivalentTo", source="MEDGEN:4434", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="ISBN-13:978-1-259-64403-0"} ! psychiatric disorder
is_a: MONDO:0005137 {source="NCIT:C89332"} ! nutritional disorder
relationship: excluded_subClassOf MONDO:0000592 {source="DOID:8670", source="https://orcid.org/0000-0001-5208-3432"} ! specific developmental disorder

[Term]
id: MONDO:0005452
name: bulimia nervosa
def: "A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image." [NCIT:C34440]
subset: otar {source="MONDO:OTAR"}
synonym: "bulimia" EXACT [NCIT:C34440]
synonym: "hyperorexia nervosa" EXACT [DOID:12129]
xref: DOID:12129 {source="EFO:0005204", source="MONDO:equivalentTo"}
xref: EFO:0005204 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F50.2 {source="DOID:12129", source="MONDO:equivalentTo"}
xref: ICD9:307.51 {source="EFO:0005204", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:389218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002032 {source="DOID:12129", source="MONDO:directSiblingOf"}
xref: MESH:D052018 {source="EFO:0005204", source="MONDO:equivalentTo"}
xref: NCIT:C34440 {source="EFO:0005204", source="MONDO:equivalentTo"}
xref: NCIT:C97162 {source="DOID:12129", source="MONDO:directSiblingOf"}
xref: SCTID:192013000 {source="DOID:12129"}
xref: SCTID:192447005 {source="DOID:12129"}
xref: SCTID:206939001 {source="DOID:12129"}
xref: SCTID:78004001 {source="DOID:12129", source="EFO:0005204", source="MONDO:equivalentTo"}
xref: UMLS:C2267227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:389218"}
is_a: MONDO:0005451 {source="DOID:12129", source="EFO:0005204", source="NCIT:C34440"} ! eating disorder

[Term]
id: MONDO:0005453
name: congenital heart disease
def: "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "abnormalities, heart" RELATED [MESH:D006330]
synonym: "Abnormality, heart" RELATED [MESH:D006330]
synonym: "congenital anomaly of heart" EXACT [DOID:1682]
synonym: "congenital heart defect" EXACT [DOID:1682, MESH:D006330]
synonym: "congenital heart defects" EXACT [DOID:1682, MESH:D006330, MTH:NOCODE]
synonym: "defect, congenital heart" RELATED [MESH:D006330]
synonym: "defects, congenital heart" RELATED [MESH:D006330]
synonym: "heart abnormalities" RELATED [MESH:D006330]
synonym: "heart abnormality" RELATED [MESH:D006330]
synonym: "heart defect" EXACT [DOID:1682]
synonym: "heart defect, congenital" RELATED [MESH:D006330]
synonym: "heart malformation" BROAD [DOID:1682, NCIT:C34666]
synonym: "heart, malformation Of" RELATED [MESH:D006330]
synonym: "heart-congenital defect" RELATED [DOID:1682]
xref: DOID:1682 {source="EFO:0005207", source="MONDO:equivalentTo"}
xref: EFO:0005207 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q24.9 {source="DOID:1682"}
xref: ICD9:746.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:746.9 {source="DOID:1682", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006330 {source="DOID:1682", source="MONDO:equivalentTo"}
xref: NCIT:C34666 {source="DOID:1682"}
xref: NCIT:C95834 {source="EFO:0005207", source="MONDO:equivalentTo"}
xref: SCTID:13213009 {source="DOID:1682", source="EFO:0005207", source="MONDO:equivalentTo"}
xref: SCTID:156911006 {source="DOID:1682"}
xref: SCTID:156926008 {source="DOID:1682"}
xref: SCTID:204405005 {source="DOID:1682"}
xref: SCTID:204413006 {source="DOID:1682"}
xref: SCTID:268315002 {source="DOID:1682"}
xref: SCTID:268318000 {source="DOID:1682"}
xref: UMLS:C0152021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57501"}
is_a: MONDO:0005267 {source="DOID:1682", source="EFO:0005207", source="MESH:D006330", source="NCIT:C95834/inferred"} ! heart disorder
is_a: MONDO:0024239 {source="NCIT:C95834"} ! congenital anomaly of cardiovascular system

[Term]
id: MONDO:0005454
name: lung neuroendocrine neoplasm
def: "A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." [NCIT:C5670]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "lung neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5670]
synonym: "lung neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "lung neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "lung neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of lung" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5670]
synonym: "neuroendocrine neoplasm of the lung" EXACT [NCIT:C5670]
synonym: "pulmonary neuroendocrine neoplasm" EXACT [NCIT:C5670]
synonym: "pulmonary neuroendocrine tumor" RELATED [DOID:5410]
synonym: "pulmonary neuroendocrine tumour" RELATED OMO:0003005 []
xref: DOID:5410 {source="MONDO:equivalentTo", source="EFO:0005220"}
xref: EFO:0005220 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:209.61 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:277303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5670 {source="DOID:5410", source="MONDO:equivalentTo", source="EFO:0005220"}
xref: ONCOTREE:LNET {source="MONDO:equivalentTo"}
xref: SCTID:707594002 {source="DOID:5410", source="MONDO:equivalentTo", source="EFO:0005220"}
xref: UMLS:C1334452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277303"}
is_a: MONDO:0019496 {source="EFO:0005220", source="MONDO:Redundant", source="NCIT:C5670"} ! neuroendocrine neoplasm
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C5670", source="ONCOTREE:LNET"} ! lung neoplasm
intersection_of: MONDO:0019496 {source="NCIT:C5670"} ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002048 {source="NCIT:C5670"} ! lung

[Term]
id: MONDO:0005455
name: obsolete cholangiocarcinoma
is_obsolete: true
replaced_by: MONDO:0019087

[Term]
id: MONDO:0005456
name: obsolete avian influenza
is_obsolete: true
replaced_by: MONDO:0018695

[Term]
id: MONDO:0005457
name: obsolete acute stress reaction
is_obsolete: true
replaced_by: MONDO:0003763

[Term]
id: MONDO:0005458
name: obsolete q fever
is_obsolete: true
replaced_by: MONDO:0019186

[Term]
id: MONDO:0005459
name: human African trypanosomiasis
alt_id: MONDO:0018073
def: "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." [NCIT:P378]
subset: gard_rare {source="GARD:7826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3385"}
subset: orphanet_rare {source="Orphanet:3385"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Africam sleeping sickness" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "African sleeping sickness" EXACT [DOID:10112]
synonym: "African trypanosomiasis" EXACT [DOID:10112, MTH:NOCODE]
synonym: "sleeping sickness" EXACT [DOID:10112, Orphanet:3385]
xref: DOID:10112 {source="EFO:0005225", source="MONDO:equivalentTo"}
xref: EFO:0005225 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7826 {source="MONDO:GARD"}
xref: ICD10CM:B56 {source="DOID:10112"}
xref: ICD10CM:B56.0 {source="Orphanet:3385/btnt", source="Orphanet:3385"}
xref: ICD10CM:B56.1 {source="Orphanet:3385/btnt", source="Orphanet:3385"}
xref: ICD10CM:B56.9 {source="Orphanet:3385/btnt", source="Orphanet:3385", source="DOID:10112"}
xref: ICD9:086.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10112"}
xref: MedDRA:10001461 {source="Orphanet:3385/e", source="Orphanet:3385"}
xref: MEDGEN:21714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014353 {source="MONDO:relatedTo", source="Orphanet:3385/e", source="Orphanet:3385", source="DOID:10112"}
xref: NCIT:C84541 {source="EFO:0005225", source="MONDO:equivalentTo", source="DOID:10112"}
xref: Orphanet:3385 {source="MONDO:equivalentTo"}
xref: SCTID:186818008 {source="DOID:10112"}
xref: SCTID:187512007 {source="DOID:10112"}
xref: SCTID:27031003 {source="EFO:0005225", source="MONDO:equivalentTo", source="DOID:10112"}
xref: SCTID:78940002 {source="DOID:10112"}
xref: UMLS:C0041228 {source="MEDGEN:21714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000940 {source="DOID:10112", source="EFO:0005225"} ! trypanosomiasis
is_a: MONDO:0005135 {source="MESH:D014353/inferred", source="MONDO:Redundant", source="NCIT:C84541", source="Orphanet:3385"} ! parasitic infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature HP:0001903 {source="MONDO:Wikidata"} ! Anemia
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia
relationship: disease_has_infectious_agent NCBITaxon:5691 {source="MONDO:Wikidata"} ! Trypanosoma brucei
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0005460
name: swine influenza
def: "An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness." [NCIT:C80444]
subset: otar {source="MONDO:OTAR"}
synonym: "H1N1 flu" EXACT [NCIT:C80444]
synonym: "H1N1 Influenza" EXACT [NCIT:C80444]
synonym: "H1N1 Virus infection" EXACT [NCIT:C80444]
synonym: "Influenza A (H1N1)" EXACT [NCIT:C80444]
synonym: "Influenza A (H1N1) Virus infection" EXACT [NCIT:C80444]
synonym: "swine flu" EXACT [NCIT:C80444]
synonym: "Swine influenza virus caused influenza" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Swine influenza virus influenza" EXACT []
xref: DOID:0050211 {source="EFO:0005226", source="MONDO:equivalentTo"}
xref: EFO:0005226 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1385137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80444 {source="MONDO:equivalentTo"}
xref: SCTID:442696006 {source="MONDO:equivalentTo"}
xref: UMLS:C0276357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385137"}
is_a: MONDO:0005812 {source="DOID:0050211", source="EFO:0005226", source="MONDO:Redundant", source="NCIT:C80444"} ! influenza
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12845 ! disease has primary infectious agent Swine influenza virus

[Term]
id: MONDO:0005461
name: endometrium adenocarcinoma
def: "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." [NCIT:C7359]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of endometrium" EXACT [NCIT:C7359]
synonym: "adenocarcinoma of the endometrium" EXACT [DOID:2870, NCIT:C7359]
synonym: "adenocarcinoma of uterus" EXACT [DOID:2870]
synonym: "adenocarcinoma, endometrial, malignant" EXACT [NCIT:C7359]
synonym: "endometrial adenoacanthoma" EXACT [DOID:2870]
synonym: "endometrial adenocarcinoma" EXACT [NCIT:C7359]
synonym: "endometrial endometrioid adenocarcinoma" RELATED [DOID:2870]
synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" EXACT [DOID:2870, NCIT:C8027]
synonym: "endometrioid adenoma or carcinoma" EXACT [DOID:2870]
synonym: "endometrioid adenoma or carcinoma NOS (morphologic abnormality)" EXACT [DOID:2870]
synonym: "endometrioid adenomas and carcinomas" EXACT [DOID:2870]
synonym: "endometrioid adenomas and carcinomas (morphologic abnormality)" EXACT [DOID:2870]
synonym: "endometrioid carcinoma of endometrium" BROAD [DOID:2870, NCIT:C6287]
synonym: "endometrium adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:2870 {source="MONDO:equivalentTo", source="EFO:0005232"}
xref: EFO:0005232 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:218862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6287 {source="DOID:2870", source="MONDO:directSiblingOf"}
xref: NCIT:C6290 {source="DOID:2870"}
xref: NCIT:C7359 {source="DOID:2870", source="MONDO:equivalentTo", source="EFO:0005232"}
xref: SCTID:123845008 {source="DOID:2870", source="EFO:0005232"}
xref: SCTID:189649001 {source="DOID:2870"}
xref: SCTID:189652009 {source="DOID:2870"}
xref: SCTID:309245001 {source="DOID:2870"}
xref: UMLS:C1153706 {source="MEDGEN:218862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002447 {source="DOID:2870", source="MONDO:Redundant", source="NCIT:C7359"} ! endometrial carcinoma
is_a: MONDO:0004970 {source="DOID:2870", source="EFO:0005232", source="MONDO:Redundant", source="NCIT:C7359"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium
relationship: disease_has_location UBERON:0001295 {source="EFO:0000784"} ! endometrium

[Term]
id: MONDO:0005462
name: primitive neuroectodermal tumor
def: "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors." [NCIT:C3716]
comment: Editor note: TODO check relationship to neuroepithelioma
subset: otar {source="MONDO:OTAR"}
synonym: "neuroectodermal neoplasm" EXACT [NCIT:C3716]
synonym: "neuroectodermal tumor" EXACT [MONDO:0002084, NCIT:C3716]
synonym: "neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "neuroepithelioma" RELATED [NCIT:C3716]
synonym: "PNET" EXACT ABBREVIATION [NCIT:C3716]
synonym: "primitive neuroectodermal neoplasm" EXACT [DOID:171, NCIT:C3716]
synonym: "primitive neuroectodermal tumor" EXACT [NCIT:C3716]
synonym: "primitive neuroectodermal tumor (PNET)" EXACT [NCIT:C3716]
synonym: "primitive neuroectodermal tumour (PNET)" EXACT OMO:0003005 []
xref: DOID:171 {source="MONDO:equivalentTo"}
xref: EFO:0005235 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9473/3 {source="NCIT:C3716"}
xref: ICDO:9503/3 {source="NCIT:C3716"}
xref: MEDGEN:64627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017599 {source="MONDO:equivalentTo", source="DOID:171"}
xref: NCIT:C3716 {source="EFO:0005235", source="MONDO:equivalentTo", source="ONCOTREE:PNET"}
xref: ONCOTREE:PNET {source="MONDO:equivalentTo"}
xref: SCTID:253096008 {source="DOID:171"}
xref: SCTID:39781001 {source="EFO:0005235"}
xref: SCTID:699028006 {source="EFO:0005235"}
xref: SCTID:73676002 {source="DOID:171"}
xref: UMLS:C0206663 {source="MONDO:equivalentTo", source="MEDGEN:64627", source="MONDO:MEDGEN"}
is_a: MONDO:0005564 {source="EFO:0005235", source="MONDO:Redundant", source="NCIT:C3716", source="ONCOTREE:PNET"} ! embryonal neoplasm
is_a: MONDO:0021193 {source="MONDO:Redundant", source="NCIT:C3716"} ! neuroepithelial neoplasm
relationship: disease_arises_from_structure UBERON:0002346 {source="NCIT:C3716"} ! neurectoderm
relationship: excluded_subClassOf MONDO:0002510 {source="MESH:D017599", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete germ cell and embryonal cancer
relationship: excluded_subClassOf MONDO:0005872 {source="DOID:171", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system cancer

[Term]
id: MONDO:0005463
name: aortic valve calcification
def: "Calcification of the aortic valve" [EFO:0005239]
subset: otar {source="MONDO:OTAR"}
synonym: "aortic valve calcification" EXACT [MONDO:ambiguous]
synonym: "aortic valve calcification (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0005239 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0004380 {source="MONDO:otherHierarchy"}
xref: MEDGEN:140899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:250978003 {source="MONDO:equivalentTo", source="EFO:0005239"}
xref: UMLS:C0428791 {source="MEDGEN:140899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003803 ! aortic valve disorder
relationship: disease_has_location UBERON:0002137 {source="EFO:0000784"} ! aortic valve
property_value: IAO:0000589 "aortic valve calcification (disease)" xsd:string

[Term]
id: MONDO:0005464
name: rhegmatogenous retinal detachment
def: "Retinal detachment secondary to retinal tear or break." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005240 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:489829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118755 {source="MONDO:equivalentTo", source="EFO:0005240"}
xref: SCTID:19620000 {source="MONDO:equivalentTo", source="EFO:0005240"}
xref: UMLS:C0271055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:489829"}
is_a: MONDO:0008375 {source="EFO:0005240", source="NCIT:C118755"} ! retinal detachment
relationship: disease_has_location UBERON:0000966 {source="EFO:0000784"} ! retina

[Term]
id: MONDO:0005465
name: methamphetamine-induced psychosis
def: "Abnormal mental state resulting from an abuse of methamphetamine" [EFO:0005242]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005242 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005485 {source="https://orcid.org/0000-0002-6601-2165"} ! psychotic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005466
name: hypersomnia
def: "A sleep disorder characterized by excessive sleepiness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hypersomnia" EXACT [MONDO:ambiguous]
synonym: "hypersomnia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0005246 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100786 {source="MONDO:otherHierarchy"}
xref: ICD9:780.54 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:214588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78346 {source="EFO:0005246", source="MONDO:equivalentTo"}
xref: SCTID:77692006 {source="EFO:0005246", source="MONDO:equivalentTo"}
xref: UMLS:C0917799 {source="MEDGEN:214588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="EFO:0005246", source="NCIT:C78346"} ! sleep-wake disorder
relationship: excluded_subClassOf MONDO:0005071 {source="EFO:0005246", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
property_value: IAO:0000589 "hypersomnia (disease)" xsd:string

[Term]
id: MONDO:0005467
name: occupation-related stress disorder
def: "The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." [EFO:0005250]
xref: MEDGEN:636163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:10586006 {source="MONDO:equivalentTo", source="EFO:0005250"}
xref: UMLS:C0520683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:636163"}
xref: Wikipedia:Occupational_stress {source="EFO:0005250"}
is_a: MONDO:0100366 {source="https://orcid.org/0000-0002-0736-9199"} ! occupational disorder
relationship: excluded_subClassOf MONDO:0005084 {source="EFO:0005250", source="https://orcid.org/0000-0001-5208-3432"} ! mental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3061" xsd:anyURI

[Term]
id: MONDO:0005468
name: hypotensive disorder
def: "Blood pressure that is abnormally low." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hypotension" EXACT [MONDO:ambiguous]
synonym: "hypotension (disease)" EXACT [https://github.com/monarch-initiative/mondo/issues/1030]
xref: EFO:0005251 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002615 {source="MONDO:otherHierarchy"}
xref: ICD9:458 {source="EFO:0005251"}
xref: ICD9:458.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:458.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:5715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007022 {source="MONDO:equivalentTo", source="EFO:0005251"}
xref: NCIT:C3128 {source="MONDO:otherHierarchy", source="EFO:0005251"}
xref: SCTID:45007003 {source="MONDO:equivalentTo", source="EFO:0005251"}
xref: UMLS:C0020649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5715"}
is_a: MONDO:0000473 {source="https://github.com/monarch-initiative/mondo/issues/1030"} ! arterial disorder
relationship: excluded_subClassOf MONDO:0004995 {source="EFO:0005251", source="MESH:D007022/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! cardiovascular disorder

[Term]
id: MONDO:0005469
name: orthostatic hypotension
def: "Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "orthostatic hypotension" EXACT [MONDO:ambiguous]
synonym: "orthostatic hypotension (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0005252 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001278 {source="MONDO:otherHierarchy"}
xref: ICD9:458.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005252"}
xref: MEDGEN:43803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84970 {source="MONDO:otherHierarchy", source="EFO:0005252"}
xref: SCTID:28651003 {source="MONDO:equivalentTo", source="EFO:0005252"}
xref: UMLS:C0020651 {source="MEDGEN:43803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005468 {source="EFO:0005252"} ! hypotensive disorder
property_value: IAO:0000589 "orthostatic hypotension (disease)" xsd:string

[Term]
id: MONDO:0005470
name: postprandial hypotension
def: "Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous system for the diversion of blood to the intestines." [EFO:0005253]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005468 {source="EFO:0005253"} ! hypotensive disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005471
name: neurally mediated hypotension
def: "Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" [EFO:0005254]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005468 {source="EFO:0005254"} ! hypotensive disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005472
name: obsolete congenital heart malformation
is_obsolete: true
replaced_by: MONDO:0019512

[Term]
id: MONDO:0005473
name: temporomandibular joint disorder
def: "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "TMD" EXACT ABBREVIATION [NCIT:C63709]
xref: EFO:0005279 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M26-M27 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:524.60 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:524.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013705 {source="MONDO:equivalentTo"}
xref: NCIT:C63709 {source="EFO:0005279", source="MONDO:equivalentTo"}
xref: SCTID:41888000 {source="EFO:0005279", source="MONDO:equivalentTo"}
xref: UMLS:C0039494 {source="MEDGEN:21092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="MESH:D013705", source="NCIT:C63709"} ! arthropathy

[Term]
id: MONDO:0005474
name: obsolete non-small cell lung adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0005061

[Term]
id: MONDO:0005475
name: migraine with aura
def: "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic migraine" EXACT [DOID:10024]
xref: DOID:10024 {source="MONDO:equivalentTo", source="EFO:0005295"}
xref: HP:0002077 {source="MONDO:otherHierarchy", source="EFO:0005295"}
xref: ICD10CM:G43.1 {source="DOID:10024"}
xref: ICD10CM:G43.109 {source="DOID:10024"}
xref: ICD9:346.0 {source="EFO:0005295", source="DOID:10024"}
xref: ICD9:346.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020325 {source="MONDO:equivalentTo", source="EFO:0005295", source="DOID:10024"}
xref: NCIT:C117005 {source="MONDO:equivalentTo", source="EFO:0005295", source="DOID:10024"}
xref: SCTID:155047002 {source="DOID:10024"}
xref: SCTID:4473006 {source="MONDO:equivalentTo", source="EFO:0005295", source="DOID:10024"}
xref: UMLS:C0154723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57822"}
is_a: MONDO:0005277 {source="DOID:10024", source="EFO:0005295", source="MESH:D020325", source="NCIT:C117005"} ! migraine disorder

[Term]
id: MONDO:0005476
name: atrioventricular node disorder
def: "A disease involving the atrioventricular node." [MONDO:patterns/location_top]
subset: otar {source="MONDO:OTAR"}
synonym: "atrioventricular node disease" EXACT [MONDO:patterns/location]
synonym: "atrioventricular node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of atrioventricular node" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of atrioventricular node" EXACT []
synonym: "disorder of atrioventricular node" EXACT [MONDO:patterns/location_top]
xref: EFO:0005305 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:477944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3276314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477944"}
is_a: MONDO:0005449 {source="EFO:0005305", source="MONDO:Entailed", source="MONDO:Redundant"} ! conduction system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002352 ! atrioventricular node

[Term]
id: MONDO:0005477
name: ventricular tachycardia
def: "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005306 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I47.2 {source="MONDO:equivalentTo"}
xref: MEDGEN:12068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017180 {source="MONDO:equivalentTo"}
xref: NANDO:2100049 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50802 {source="EFO:0005306", source="MONDO:equivalentTo"}
xref: SCTID:25569003 {source="EFO:0005306", source="MONDO:equivalentTo"}
xref: UMLS:C0042514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12068"}
is_a: MONDO:0007263 {source="EFO:0005306", source="NCIT:C50802"} ! cardiac rhythm disease

[Term]
id: MONDO:0005478
name: torsades de pointes
def: "A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation." [MESH:D016171]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005307 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001664 {source="MONDO:otherHierarchy", source="EFO:0005307"}
xref: MEDGEN:21214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016171 {source="MONDO:equivalentTo", source="EFO:0005307"}
xref: SCTID:31722008 {source="MONDO:equivalentTo", source="EFO:0005307"}
xref: UMLS:C0040479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21214"}
is_a: MONDO:0005477 {source="EFO:0005307", source="MESH:D016171"} ! ventricular tachycardia

[Term]
id: MONDO:0005479
name: atrial tachycardia
def: "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005308 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:427.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:107485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200218 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35481 {source="MONDO:equivalentTo", source="EFO:0005308"}
xref: SCTID:276796006 {source="MONDO:equivalentTo", source="EFO:0005308"}
xref: UMLS:C0546959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107485"}
is_a: MONDO:0007263 {source="EFO:0005308", source="NCIT:C35481/inferred"} ! cardiac rhythm disease

[Term]
id: MONDO:0005480
name: contact dermatitis
def: "An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen." [NCIT:C26743]
subset: otar {source="MONDO:OTAR"}
synonym: "contact dermatitis" EXACT [NCIT:C26743]
synonym: "contact dermatitis NOS" RELATED EXCLUDE [DOID:2773]
synonym: "contact dermatitis/eczema" EXACT [DOID:2773]
synonym: "contact eczema" NARROW [DOID:2773]
synonym: "dermatitis venenata" EXACT [DOID:2773]
synonym: "dermatitis, venenata" EXACT [DOID:2773]
synonym: "dermatitis, venenata NOS" RELATED EXCLUDE [DOID:2773]
xref: DOID:2773 {source="MONDO:equivalentTo", source="EFO:0005319"}
xref: EFO:0005319 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L25 {source="DOID:2773"}
xref: ICD10CM:L25.9 {source="DOID:2773"}
xref: ICD9:692.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003877 {source="DOID:2773", source="MONDO:equivalentTo"}
xref: NCIT:C26743 {source="DOID:2773", source="MONDO:equivalentTo", source="EFO:0005319"}
xref: SCTID:156338009 {source="DOID:2773"}
xref: SCTID:156348006 {source="DOID:2773"}
xref: SCTID:200780008 {source="DOID:2773"}
xref: SCTID:200883000 {source="DOID:2773"}
xref: SCTID:200889001 {source="DOID:2773"}
xref: SCTID:267842005 {source="DOID:2773"}
xref: SCTID:267846008 {source="DOID:2773"}
xref: SCTID:40275004 {source="DOID:2773", source="MONDO:equivalentTo", source="EFO:0005319"}
xref: UMLS:C0011616 {source="MEDGEN:8329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="DOID:2773", source="MESH:D003877", source="NCIT:C26743"} ! dermatitis

[Term]
id: MONDO:0005481
name: contact dermatitis due to nickel
def: "A form of allergic contact dermatitis that results from exposure to nickel" [EFO:0005320]
xref: MEDGEN:671387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:93419003 {source="MONDO:equivalentTo", source="EFO:0005320"}
xref: UMLS:C0684345 {source="MEDGEN:671387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005480 {source="EFO:0005320", source="MONDO:Redundant"} ! contact dermatitis
intersection_of: MONDO:0005480 ! contact dermatitis
intersection_of: realized_in_response_to_stimulus CHEBI:33748 ! nickel molecular entity

[Term]
id: MONDO:0005482
name: obsolete molar-incisor hypomineralization
def: "OBSOLETE. A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors" [EFO:0005321]
comment: Reason: is a phenotype and not a disease. Term to consider: none
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: SCTID:698053001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4968" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0005483
name: chemotherapy-induced alopecia
def: "Hair loss as a result of chemotherapy treatment." [EFO:0005400]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0005400 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1720394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C164162 {source="MONDO:equivalentTo"}
xref: UMLS:C5236021 {source="MEDGEN:1720394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="EFO:0005400"} ! alopecia
intersection_of: MONDO:0004907 ! alopecia
intersection_of: realized_in_response_to MAXO:0000647 ! chemotherapy
relationship: disease_has_location UBERON:0000033 {source="EFO:0000784"} ! head

[Term]
id: MONDO:0005484
name: colorectal adenoma
def: "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." [NCIT:C5673]
comment: We follow NCIT in treating colorectal adenoma and large intestine adenoma as equivalent.
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of large bowel" EXACT [NCIT:C5673]
synonym: "adenoma of large intestine" EXACT [NCIT:C5673]
synonym: "adenoma of the large bowel" EXACT [NCIT:C5673]
synonym: "adenoma of the large intestine" EXACT [NCIT:C5673]
synonym: "colorectal adenoma" EXACT [NCIT:C5673]
synonym: "colorectum adenoma" EXACT [MONDO:patterns/location]
synonym: "large bowel adenoma" EXACT [NCIT:C5673]
synonym: "large intestine adenoma" EXACT [NCIT:C5673]
xref: DOID:0050860 {source="MONDO:equivalentTo", source="EFO:0005406", source="MONDO:preferredExternal"}
xref: DOID:0050914 {source="MONDO:equivalentTo"}
xref: EFO:0005406 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:224904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5673 {source="MONDO:equivalentTo", source="EFO:0005406"}
xref: SCTID:399432003 {source="MONDO:equivalentTo"}
xref: UMLS:C1302401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224904"}
is_a: MONDO:0005335 {source="EFO:0005406", source="MONDO:Redundant", source="NCIT:C5673"} ! colorectal neoplasm
is_a: MONDO:0006180 {source="MONDO:Redundant", source="NCIT:C5673"} ! digestive system adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0012652 ! colorectum
relationship: disease_arises_from_structure UBERON:0001207 {source="NCIT:C5673"} ! mucosa of large intestine

[Term]
id: MONDO:0005485
name: psychotic disorder
def: "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." [Wikipedia:Psychosis]
subset: otar {source="MONDO:OTAR"}
synonym: "mental or behavioral disorder" BROAD [DOID:2468]
synonym: "mental or behavioural disorder" BROAD OMO:0003005 []
synonym: "psychosis" EXACT [MONDO:ambiguous]
xref: DOID:2468 {source="MONDO:equivalentTo"}
xref: EFO:0005407 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000709 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F20-F29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:298.8 {source="DOID:2468"}
xref: ICD9:298.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:19568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78576 {source="MONDO:equivalentTo", source="EFO:0005407"}
xref: SCTID:69322001 {source="MONDO:equivalentTo"}
xref: UMLS:C0033975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19568"}
is_a: MONDO:0002039 {source="DOID:2468"} ! cognitive disorder
is_a: MONDO:0005084 {source="EFO:0005407"} ! mental disorder

[Term]
id: MONDO:0005486
name: tooth agenesis
def: "A rare developmental dental anomaly in humans characterized by the absence of six or more teeth." [https://orcid.org/0000-0001-5208-3432, Orphanet:99798]
subset: gard_rare {source="GARD:16908", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99798"}
subset: ordo_morphological_anomaly {source="Orphanet:99798"}
subset: orphanet_rare {source="Orphanet:99798"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial tooth agenesis" EXACT [DOID:0050591]
synonym: "hypodontia" EXACT [DOID:0050591, Orphanet:2227]
synonym: "oligodontia" EXACT [DOID:0050591]
synonym: "selective tooth agenesis" EXACT [DOID:0050591, Orphanet:99798]
synonym: "tooth agenesis, selective" RELATED [OMIMPS:106600]
xref: DOID:0050591 {source="EFO:0005410", source="MONDO:equivalentTo"}
xref: EFO:0005410 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16908 {source="MONDO:GARD"}
xref: ICD10CM:K00.0 {source="Orphanet:99798/ntbt", source="Orphanet:99798", source="DOID:0050591", source="MONDO:directSiblingOf", source="Orphanet:99798/inclusion"}
xref: icd11.foundation:1559717619 {source="Orphanet:99798", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:520.0 {source="DOID:0050591"}
xref: MEDGEN:43794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000848 {source="DOID:0050591", source="MONDO:directSiblingOf"}
xref: OMIMPS:106600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2227 {source="MONDO:equivalentObsolete", source="DOID:0050591"}
xref: Orphanet:99798 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0050591"}
xref: SCTID:16958000 {source="DOID:0050591", source="MONDO:directSiblingOf"}
xref: SCTID:196265005 {source="DOID:0050591"}
xref: SCTID:196266006 {source="DOID:0050591"}
xref: SCTID:196269004 {source="DOID:0050591"}
xref: SCTID:234951001 {source="DOID:0050591"}
xref: SCTID:26624006 {source="DOID:0050591"}
xref: SCTID:64969001 {source="MONDO:equivalentTo"}
xref: UMLS:C0020608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43794"}
is_a: MONDO:0006999 {source="DOID:0050591"} ! tooth disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:106600"} ! inherited

[Term]
id: MONDO:0005487
name: schizoaffective disorder
def: "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:5418 {source="EFO:0005411", source="MONDO:equivalentTo"}
xref: EFO:0005411 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F25 {source="DOID:5418"}
xref: ICD10CM:F25.9 {source="DOID:5418"}
xref: ICD9:295.7 {source="EFO:0005411", source="DOID:5418"}
xref: MEDGEN:11334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011618 {source="DOID:5418"}
xref: NCIT:C94378 {source="EFO:0005411", source="MONDO:equivalentTo", source="DOID:5418"}
xref: SCTID:191567000 {source="DOID:5418"}
xref: SCTID:191568005 {source="DOID:5418"}
xref: SCTID:191575006 {source="DOID:5418"}
xref: SCTID:192345003 {source="DOID:5418"}
xref: SCTID:231490005 {source="DOID:5418"}
xref: SCTID:68890003 {source="EFO:0005411", source="DOID:5418"}
xref: UMLS:C0036337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11334"}
is_a: MONDO:0005485 {source="DOID:5418", source="https://orcid.org/0000-0002-6601-2165"} ! psychotic disorder

[Term]
id: MONDO:0005488
name: adolescent idiopathic scoliosis
def: "A scoliosis with no known cause arising in adolescent." [EFO:0005423]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005423 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:450543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3153 {source="MONDO:equivalentObsolete"}
xref: SCTID:203646004 {source="EFO:0005423", source="MONDO:equivalentTo"}
xref: UMLS:C0410702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450543"}
is_a: MONDO:0000726 {source="MONDO:pnr", source="https://github.com/monarch-initiative/mondo/issues/484"} ! idiopathic scoliosis
is_a: MONDO:0005392 {source="EFO:0005423"} ! scoliosis

[Term]
id: MONDO:0005489
name: dyslexia
def: "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dyslexia" EXACT [MONDO:ambiguous]
synonym: "dyslexia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:4428 {source="EFO:0005424", source="MONDO:equivalentTo"}
xref: EFO:0005424 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0010522 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F81.0 {source="DOID:4428"}
xref: MEDGEN:96906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004410 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0005424", source="MONDO:equivalentTo", source="DOID:4428"}
xref: NCIT:C96410 {source="EFO:0005424", source="MONDO:equivalentTo", source="DOID:4428"}
xref: SCTID:154954003 {source="DOID:4428"}
xref: SCTID:158318003 {source="DOID:4428"}
xref: SCTID:192137002 {source="DOID:4428"}
xref: SCTID:206987006 {source="DOID:4428"}
xref: SCTID:268788005 {source="DOID:4428"}
xref: SCTID:52824009 {source="DOID:4428"}
xref: SCTID:59770006 {source="EFO:0005424", source="DOID:4428"}
xref: SCTID:9236007 {source="DOID:4428"}
xref: UMLS:C0476254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96906"}
is_a: MONDO:0001697 {source="DOID:4428"} ! reading disorder
is_a: MONDO:0004681 {source="DOID:4428/inferred", source="MONDO:Redundant", source="NCIT:C96410"} ! learning disability
property_value: IAO:0000589 "dyslexia (disease)" xsd:string

[Term]
id: MONDO:0005490
name: large artery stroke
def: "Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain." [EFO:0005524]
comment: Editor note: check this
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005524 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005098 {source="EFO:0005524"} ! stroke disorder
relationship: disease_has_location UBERON:0001637 ! artery

[Term]
id: MONDO:0005491
name: Chagas cardiomyopathy
def: "A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly." [MESH:D002598]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Trypanosoma cruzi cardiomyopathy" EXACT []
synonym: "Trypanosoma cruzi caused cardiomyopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: EFO:0005529 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:086.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002598 {source="MONDO:equivalentTo", source="EFO:0005529"}
xref: SCTID:998008 {source="MONDO:equivalentTo"}
xref: UMLS:C0007930 {source="MEDGEN:868", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004994 {source="EFO:0005529", source="MESH:D002598", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiomyopathy
intersection_of: MONDO:0004994 ! cardiomyopathy
intersection_of: disease_arises_from_feature MONDO:0001444 ! Chagas disease

[Term]
id: MONDO:0005492
name: urticaria
def: "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress." [MESH:D014581]
subset: otar {source="MONDO:OTAR"}
synonym: "hives" EXACT [MESH:D014581, NCIT:C3432]
synonym: "urticaria" EXACT [NCIT:C3432]
synonym: "urticaria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Urticarias" RELATED [MESH:D014581]
xref: DOID:1555 {source="EFO:0005531", source="MONDO:equivalentTo"}
xref: EFO:0005531 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001025 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L49-L54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L50 {source="MONDO:equivalentTo"}
xref: ICD9:708 {source="EFO:0005531"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="DOID:1555", source="MONDO:i2s"}
xref: ICD9:708.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:22587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014581 {source="EFO:0005531", source="MONDO:equivalentTo"}
xref: NCIT:C3432 {source="EFO:0005531", source="MONDO:equivalentTo"}
xref: SCTID:126485001 {source="EFO:0005531", source="MONDO:equivalentTo"}
xref: SCTID:201267004 {source="DOID:1555"}
xref: SCTID:201271001 {source="DOID:1555"}
xref: SCTID:267817001 {source="DOID:1555"}
xref: SCTID:64305001 {source="EFO:0005531"}
xref: UMLS:C0042109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22587"}
is_a: MONDO:0002406 {source="NCIT:C3432"} ! dermatitis
is_a: MONDO:0005093 {source="DOID:1555", source="EFO:0005531", source="MESH:D014581/inferred", source="MONDO:Redundant", source="NCIT:C3432/inferred"} ! skin disorder
property_value: IAO:0000589 "urticaria (disease)" xsd:string

[Term]
id: MONDO:0005493
name: carbon monoxide-induced delayed encephalopathy
def: "Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event" [EFO:0005534]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "delayed encephalopathy after acute carbon monoxide poisoning" EXACT [EFO:0005534]
is_a: MONDO:0005560 ! brain disorder
is_a: MONDO:0029000 {source="https://orcid.org/0000-0002-4142-7153"} ! poisoning
is_a: MONDO:0800373 {source="https://orcid.org/0000-0001-5208-3432"} ! carbon monoxide poisoning
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain
relationship: realized_in_response_to ECTO:0000207 ! exposure to carbon monoxide
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005494
name: triple-negative breast carcinoma
def: "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "triple-negative breast cancer" EXACT [NCIT:C71732]
synonym: "triple-negative breast carcinoma" EXACT [NCIT:C71732]
synonym: "triple-receptor negative breast cancer" EXACT [MONDO:0000619]
xref: DOID:0060081 {source="MONDO:equivalentTo"}
xref: EFO:0005537 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1649548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D064726 {source="MONDO:equivalentTo"}
xref: NCIT:C71732 {source="MONDO:equivalentTo"}
xref: SCTID:706970001 {source="EFO:0005537", source="MONDO:equivalentTo"}
xref: UMLS:C4722518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1649548"}
is_a: MONDO:0004989 {source="EFO:0005537", source="MONDO:Redundant", source="NCIT:C71732/inferred"} ! breast carcinoma
is_a: MONDO:0006116 {source="NCIT:C71732"} ! breast carcinoma by gene expression profile
is_a: MONDO:0007254 {source="DOID:0060081", source="NCIT:C71732/inferred"} ! breast cancer
intersection_of: MONDO:0004989 ! breast carcinoma
intersection_of: disease_has_feature NCIT:C15493 ! Estrogen Receptor Negative
intersection_of: disease_has_feature NCIT:C15497 ! Progesterone Receptor Negative
intersection_of: disease_has_feature NCIT:C68749 ! HER2/Neu Negative

[Term]
id: MONDO:0005495
name: adrenal gland disorder
def: "A disease involving the adrenal gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adrenal gland disease" EXACT [MONDO:patterns/location, NCIT:C26690]
synonym: "adrenal gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "adrenal gland diseases" EXACT [NCIT:C26690]
synonym: "adrenal gland disorder" EXACT [NCIT:C26690]
synonym: "adrenal gland disorders" EXACT [NCIT:C26690]
synonym: "disease of adrenal gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of adrenal gland" EXACT []
synonym: "disorder of adrenal gland" EXACT [MONDO:patterns/location_top]
xref: DOID:9553 {source="MONDO:equivalentTo", source="EFO:0005539"}
xref: EFO:0005539 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E27.9 {source="DOID:9553"}
xref: ICD9:255 {source="DOID:9553"}
xref: ICD9:255.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:255.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9553"}
xref: MEDGEN:892577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000307 {source="MONDO:equivalentTo", source="DOID:9553"}
xref: NCIT:C26690 {source="MONDO:equivalentTo", source="DOID:9553"}
xref: SCTID:154704000 {source="DOID:9553"}
xref: SCTID:190532009 {source="DOID:9553"}
xref: SCTID:30171000 {source="MONDO:equivalentTo", source="DOID:9553"}
xref: UMLS:C4021794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:892577"}
is_a: MONDO:0005151 {source="DOID:9553", source="EFO:0005539", source="MESH:D000307", source="MONDO:Redundant"} ! endocrine system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002369 ! adrenal gland

[Term]
id: MONDO:0005496
name: bile duct carcinoma
def: "A carcinoma that arises from epithelial cells of the bile duct" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bile duct cancer" BROAD [NCIT:C27814]
synonym: "bile duct cancer (including cholangiocarcinoma)" EXACT [NCIT:C27814]
synonym: "bile duct carcinoma" EXACT [MONDO:patterns/location, NCIT:C27814]
synonym: "carcinoma of bile duct" EXACT [MONDO:patterns/carcinoma]
xref: DOID:4897 {source="MONDO:equivalentTo", source="EFO:0005540"}
xref: EFO:0005540 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:152840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001650 {source="DOID:4897"}
xref: NCIT:C27814 {source="DOID:4897", source="MONDO:equivalentTo", source="EFO:0005540"}
xref: SCTID:70179006 {source="DOID:4897"}
xref: UMLS:C0740277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152840"}
is_a: MONDO:0003059 {source="DOID:4897", source="MONDO:Redundant"} ! bile duct cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C27814"} ! digestive system carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002394 ! bile duct
relationship: disease_has_location UBERON:0002394 {source="EFO:0000784"} ! bile duct

[Term]
id: MONDO:0005497
name: bone development disease
def: "A disease involving the bone development." [MONDO:patterns/location_top]
subset: otar {source="MONDO:OTAR"}
synonym: "bone development disease" EXACT [MONDO:patterns/location]
synonym: "bone development disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of bone development" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of bone development" EXACT []
synonym: "disorder of bone development" EXACT [MONDO:patterns/location_top]
xref: DOID:0080006 {source="EFO:0005541", source="MONDO:equivalentTo"}
xref: EFO:0005541 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:2309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:371521007 {source="MONDO:equivalentTo"}
xref: UMLS:C0005941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2309"}
is_a: MONDO:0005381 {source="DOID:0080006", source="EFO:0005541"} ! bone disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0060348 ! bone development

[Term]
id: MONDO:0005498
name: botulism
def: "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure." [NCIT:C84599]
subset: gard_rare {source="GARD:943", source="MONDO:GARD"}
subset: nord_rare {source="NORD:867", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1267"}
subset: orphanet_rare {source="Orphanet:1267"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "botulism" EXACT [NCIT:C84599]
synonym: "botulism poisoning" EXACT [DOID:11976]
synonym: "food poisoning due to Clostridium botulinum" NARROW [DOID:11976]
synonym: "foodborne botulism" NARROW [DOID:11976]
synonym: "foodborne botulism (subtype)" RELATED [GARD:0000943]
synonym: "infant botulism (subtype)" RELATED [GARD:0000943]
synonym: "infection due to Clostridium botulinum" EXACT [DOID:11976]
synonym: "intoxication with Clostridium botulinum toxin" NARROW [DOID:11976]
synonym: "wound botulism (subtype)" NARROW [GARD:0000943]
xref: CSP:5000-0060 {source="DOID:11976"}
xref: DOID:11976 {source="EFO:0005542", source="MONDO:equivalentTo"}
xref: EFO:0005542 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:943 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="DOID:11976", source="Orphanet:1267", source="Orphanet:1267/e"}
xref: icd11.foundation:78422942 {source="Orphanet:1267", source="MONDO:equivalentTo"}
xref: MedDRA:10006041 {source="Orphanet:1267", source="Orphanet:1267/e"}
xref: MEDGEN:14204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001906 {source="EFO:0005542", source="DOID:11976", source="Orphanet:1267", source="MONDO:equivalentTo", source="Orphanet:1267/e"}
xref: NCIT:C84599 {source="EFO:0005542", source="DOID:11976", source="MONDO:equivalentTo"}
xref: NORD:867 {source="MONDO:NORD"}
xref: Orphanet:1267 {source="MONDO:equivalentTo"}
xref: SCTID:154276003 {source="DOID:11976"}
xref: SCTID:186110004 {source="DOID:11976"}
xref: SCTID:266177004 {source="DOID:11976"}
xref: SCTID:398523009 {source="DOID:11976"}
xref: SCTID:398530003 {source="DOID:11976"}
xref: SCTID:398565003 {source="EFO:0005542", source="DOID:11976", source="MONDO:equivalentTo"}
xref: SCTID:414531002 {source="EFO:0005542", source="DOID:11976"}
xref: SCTID:49248004 {source="DOID:11976"}
xref: UMLS:C0006057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14204"}
is_a: MONDO:0000314 {source="DOID:11976"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11976/inferred", source="EFO:0005542", source="MESH:D001906/inferred", source="MONDO:Redundant", source="NCIT:C84599", source="Orphanet:1267"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1491 ! Clostridium botulinum
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/943/botulism" xsd:anyURI {source="GARD:0000943"}

[Term]
id: MONDO:0005499
name: brain glioma
def: "A malignant glioma that involves the brain." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain malignant glioma" EXACT [MONDO:patterns/location]
synonym: "malignant glioma of brain" EXACT [MONDO:design_pattern]
xref: DOID:0060108 {source="EFO:0005543", source="MONDO:equivalentTo"}
xref: MEDGEN:91163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4822 {source="EFO:0005543"}
xref: SCTID:254937005 {source="MONDO:equivalentTo"}
xref: UMLS:C0349661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91163"}
is_a: MONDO:0001657 {source="DOID:0060108", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain cancer
is_a: MONDO:0100342 {source="DOID:0060108", source="MONDO:Redundant"} ! malignant glioma
intersection_of: MONDO:0100342 ! malignant glioma
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0005500
name: congenital disorder of glycosylation type I
def: "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." [DOID:0050570, http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG1-CDG" RELATED [DOID:0050570]
synonym: "ALG1-CDG (CDG-1k)" RELATED [DOID:0050570]
synonym: "ALG11-CDG" RELATED [DOID:0050570]
synonym: "ALG11-CDG (CDG-1p)" RELATED [DOID:0050570]
synonym: "ALG12-CDG" RELATED [DOID:0050570]
synonym: "ALG12-CDG (CDG-1g)" RELATED [DOID:0050570]
synonym: "ALG2-CDG" RELATED [DOID:0050570]
synonym: "ALG2-CDG (CDG-1i)" RELATED [DOID:0050570]
synonym: "ALG3-CDG" RELATED [DOID:0050570]
synonym: "ALG3-CDG (CDG-1d)" RELATED [DOID:0050570]
synonym: "ALG6-CDG" RELATED [DOID:0050570]
synonym: "ALG6-CDG (CDG-1c)" RELATED [DOID:0050570]
synonym: "ALG8-CDG" RELATED [DOID:0050570]
synonym: "ALG8-CDG (CDG-1h)" RELATED [DOID:0050570]
synonym: "ALG9-CDG" RELATED [DOID:0050570]
synonym: "ALG9-CDG (CDG-1l)" RELATED [DOID:0050570]
synonym: "congenital disorders of glycosylation, type I" EXACT [OMIMPS:212065]
synonym: "DOLK-CDG" RELATED [DOID:0050570]
synonym: "DOLK-CDG (CDG-1m)" RELATED [DOID:0050570]
synonym: "DPAGT1-CDG" RELATED [DOID:0050570]
synonym: "DPAGT1-CDG (CDG-1j)" RELATED [DOID:0050570]
synonym: "DPM1-CDG" RELATED [DOID:0050570]
synonym: "DPM1-CDG (CDG-1e)" RELATED [DOID:0050570]
synonym: "DPM2-CDG" RELATED [DOID:0050570]
synonym: "DPM2-CDG (CDG-1u)" RELATED [DOID:0050570]
synonym: "DPM3-CDG" RELATED [DOID:0050570]
synonym: "DPM3-CDG (CDG-1o)" RELATED [DOID:0050570]
synonym: "MPDU1-CDG" RELATED [DOID:0050570]
synonym: "MPDU1-CDG (CDG-1f)" RELATED [DOID:0050570]
synonym: "MPI-CDG" RELATED [DOID:0050570]
synonym: "MPI-CDG (CDG-1b)" RELATED [DOID:0050570]
synonym: "PMM2-CDG" RELATED [DOID:0050570]
synonym: "PMM2-CDG (CDG-1a)" RELATED [DOID:0050570]
synonym: "RFT1-CDG" RELATED [DOID:0050570]
synonym: "RFT1-CDG (CDG-1n)" RELATED [DOID:0050570]
synonym: "SRD5A3-CDG" RELATED [DOID:0050570]
synonym: "SRD5A3-CDG (CDG-1q)" RELATED [DOID:0050570]
xref: DOID:0050570 {source="EFO:0005545", source="MONDO:equivalentTo"}
xref: EFO:0005545 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1684618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:212065 {source="MONDO:equivalentTo"}
xref: UMLS:C4700504 {source="MEDGEN:1684618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015286 {source="DOID:0050570"} ! congenital disorder of glycosylation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:212065"} ! inherited

[Term]
id: MONDO:0005501
name: congenital disorder of glycosylation type II
def: "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." [DOID:0050571, http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B4GALT1-CDG" RELATED [DOID:0050571]
synonym: "B4GALT1-CDG (CDG-2d)" RELATED [DOID:0050571]
synonym: "congenital disorder of glycosylation type II" EXACT CLINGEN_LABEL []
synonym: "congenital disorders of glycosylation, type II" EXACT [OMIMPS:212066]
synonym: "MGAT2-CDG" RELATED [DOID:0050571]
synonym: "MGAT2-CDG (CDG-2a)" RELATED [DOID:0050571]
synonym: "MOGS-CDG" RELATED [DOID:0050571]
synonym: "MOGS-CDG (CDG-2b)" RELATED [DOID:0050571]
xref: DOID:0050571 {source="EFO:0005546", source="MONDO:equivalentTo"}
xref: EFO:0005546 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1812737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535747 {source="EFO:0005546", source="MONDO:equivalentTo"}
xref: OMIMPS:212066 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C5574948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812737"}
is_a: MONDO:0015286 {source="DOID:0050571", source="MESH:C535747"} ! congenital disorder of glycosylation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:212066"} ! inherited

[Term]
id: MONDO:0005502
name: dengue disease
def: "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." [Orphanet:99828]
subset: gard_rare {source="GARD:6254", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99828"}
subset: orphanet_rare {source="Orphanet:99828"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "break bone fever" EXACT [NCIT:C34528]
synonym: "breakbone fever" EXACT [DOID:12205]
synonym: "classic dengue" EXACT [DOID:12205]
synonym: "classical dengue" RELATED [DOID:12205]
synonym: "Dengue" EXACT [NCIT:C34528]
synonym: "Dengue fever" EXACT [DOID:12205, NCIT:C34528]
synonym: "Dengue virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dengue virus disease or disorder" EXACT []
synonym: "Dengue virus infection" EXACT [Orphanet:99828]
synonym: "Dengue virus infectious disease" EXACT []
synonym: "DF" EXACT ABBREVIATION [Orphanet:99828]
synonym: "hemorrhagic dengue" RELATED [GARD:0006254]
synonym: "Philippine hemorrhagic fever" RELATED [GARD:0006254]
synonym: "Singapore hemorrhagic fever" RELATED [GARD:0006254]
synonym: "Thai hemorrhagic fever" RELATED [GARD:0006254]
xref: DOID:12205 {source="MONDO:equivalentTo", source="EFO:0005547"}
xref: EFO:0005547 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6254 {source="MONDO:GARD"}
xref: ICD10CM:A90 {source="DOID:12205"}
xref: ICD9:061 {source="DOID:12205", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10012310 {source="Orphanet:99828/e", source="Orphanet:99828"}
xref: MEDGEN:3721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003715 {source="DOID:12205", source="Orphanet:99828/e", source="MONDO:equivalentTo", source="Orphanet:99828"}
xref: NCIT:C34528 {source="DOID:12205", source="MONDO:equivalentTo", source="EFO:0005547"}
xref: Orphanet:99828 {source="MONDO:equivalentTo"}
xref: SCTID:154345006 {source="DOID:12205"}
xref: SCTID:266194002 {source="DOID:12205"}
xref: SCTID:38362002 {source="DOID:12205", source="MONDO:equivalentTo"}
xref: UMLS:C0011311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3721"}
is_a: MONDO:0005108 {source="DOID:12205", source="EFO:0005547", source="MESH:D003715/inferred", source="MONDO:Redundant", source="NCIT:C34528"} ! viral infectious disease
is_a: MONDO:0005763 {source="MESH:D003715/inferred", source="MONDO:Redundant"} ! Flaviviridae infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12637 ! disease has primary infectious agent Dengue virus
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_infectious_agent NCBITaxon:12637 {source="MONDO:Wikidata"} ! Dengue virus
relationship: excluded_subClassOf MONDO:0018093 {source="Orphanet:99828", source="https://orcid.org/0000-0001-5208-3432"} ! arbovirus fever

[Term]
id: MONDO:0005503
name: developmental disorder of mental health
def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." [EFO:0005548]
subset: otar {source="MONDO:OTAR"}
synonym: "developmental disorder of mental health" EXACT CLINGEN_LABEL []
synonym: "developmental mental disorder" RELATED []
xref: DOID:0060037 {source="EFO:0005548", source="MONDO:equivalentTo"}
xref: EFO:0005548 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:315.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:688110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:129104009 {source="MONDO:equivalentTo"}
xref: UMLS:C1263839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:688110"}
is_a: MONDO:0005084 {source="EFO:0005548"} ! mental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3719" xsd:anyURI

[Term]
id: MONDO:0005504
name: diphtheria
def: "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." [NCIT:P378]
subset: gard_rare {source="GARD:1875", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1679"}
subset: orphanet_rare {source="Orphanet:1679"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Corynebacterium infection" EXACT [DOID:11405]
xref: DOID:11405 {source="MONDO:equivalentTo", source="EFO:0005549"}
xref: EFO:0005549 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:1875 {source="MONDO:GARD"}
xref: ICD10CM:A36 {source="MONDO:equivalentTo"}
xref: ICD10CM:A36.0 {source="Orphanet:1679", source="Orphanet:1679/btnt"}
xref: ICD10CM:A36.1 {source="Orphanet:1679", source="Orphanet:1679/btnt"}
xref: ICD10CM:A36.2 {source="Orphanet:1679", source="Orphanet:1679/btnt"}
xref: ICD10CM:A36.3 {source="MONDO:relatedTo", source="Orphanet:1679", source="Orphanet:1679/btnt"}
xref: ICD10CM:A36.8 {source="Orphanet:1679", source="Orphanet:1679/btnt"}
xref: ICD10CM:A36.9 {source="Orphanet:1679", source="Orphanet:1679/btnt"}
xref: ICD9:032 {source="EFO:0005549"}
xref: ICD9:032.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10013023 {source="Orphanet:1679", source="Orphanet:1679/e"}
xref: MEDGEN:4334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003354 {source="DOID:11405"}
xref: MESH:D004165 {source="DOID:11405", source="MONDO:equivalentTo", source="Orphanet:1679", source="EFO:0005549", source="Orphanet:1679/e"}
xref: NCIT:C34541 {source="MONDO:equivalentTo", source="EFO:0005549"}
xref: Orphanet:1679 {source="MONDO:equivalentTo"}
xref: SCTID:397428000 {source="MONDO:equivalentTo", source="EFO:0005549"}
xref: SCTID:397434007 {source="DOID:11405"}
xref: UMLS:C0012546 {source="MEDGEN:4334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:11405"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11405/inferred", source="EFO:0005549", source="MESH:D004165/inferred", source="MONDO:Redundant", source="NCIT:C34541", source="Orphanet:1679"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1717 ! Corynebacterium diphtheriae
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1875/diphtheria" xsd:anyURI {source="GARD:0001875"}

[Term]
id: MONDO:0005505
name: dysembryoplastic neuroepithelial tumor
def: "A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B" [EFO:0005551]
subset: gard_rare {source="GARD:10640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251946"}
subset: orphanet_rare {source="Orphanet:251946"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DNET" EXACT ABBREVIATION [Orphanet:251946]
synonym: "DNT" EXACT ABBREVIATION [NCIT:C9505, ONCOTREE:DNT]
synonym: "dysembryoplastic neuroepithelial neoplasm" EXACT [DOID:2679, NCIT:C9505]
synonym: "dysembryoplastic neuroepithelial tumor (morphologic abnormality)" EXACT [DOID:2679]
synonym: "dysembryoplastic neuroepithelial tumour (morphologic abnormality)" EXACT OMO:0003005 []
xref: DOID:2679 {source="MONDO:equivalentTo", source="EFO:0005551"}
xref: EFO:0005551 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10640 {source="MONDO:GARD"}
xref: ICDO:9413/0 {source="NCIT:C9505"}
xref: MEDGEN:266109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9505 {source="MONDO:equivalentTo", source="DOID:2679", source="MONDO:exact-label-match", source="EFO:0005551"}
xref: ONCOTREE:DNT {source="MONDO:equivalentTo"}
xref: Orphanet:251946 {source="MONDO:equivalentTo"}
xref: SCTID:128788005 {source="DOID:2679", source="EFO:0005551"}
xref: SCTID:87211000119104 {source="MONDO:equivalentTo", source="DOID:2679"}
xref: UMLS:C1266177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266109"}
is_a: MONDO:0005560 {source="EFO:0005551/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! brain disorder
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C9505/inferred"} ! central nervous system neoplasm
is_a: MONDO:0016729 {source="NCIT:C9505", source="Orphanet:251946"} ! mixed neuronal-glial tumor
relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor" xsd:anyURI {source="GARD:0010640"}

[Term]
id: MONDO:0005506
name: eccrine sweat gland cancer
def: "An cancer with eccrine differentiation arising from the sweat glands.B" [EFO:0005553]
synonym: "cancer of eccrine sweat gland" EXACT [MONDO:patterns/cancer]
synonym: "eccrine sweat gland cancer" EXACT [MONDO:patterns/location]
synonym: "malignant eccrine neoplasm" EXACT [NCIT:C5559]
synonym: "malignant eccrine neoplasm of skin" EXACT [NCIT:C5559]
synonym: "malignant eccrine neoplasm of the skin" EXACT [NCIT:C5559]
synonym: "malignant eccrine skin neoplasm" EXACT [DOID:4921, NCIT:C5559]
synonym: "malignant eccrine skin tumor" EXACT [NCIT:C5559]
synonym: "malignant eccrine skin tumour" EXACT OMO:0003005 []
synonym: "malignant eccrine sweat gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant eccrine tumor" EXACT [DOID:4921, NCIT:C5559]
synonym: "malignant eccrine tumor of skin" EXACT [NCIT:C5559]
synonym: "malignant eccrine tumor of the skin" EXACT [NCIT:C5559]
synonym: "malignant eccrine tumour" EXACT OMO:0003005 []
synonym: "malignant eccrine tumour of skin" EXACT OMO:0003005 []
synonym: "malignant eccrine tumour of the skin" EXACT OMO:0003005 []
synonym: "malignant neoplasm of eccrine sweat gland" EXACT [MONDO:patterns/cancer]
xref: DOID:4921 {source="EFO:0005553", source="MONDO:equivalentTo"}
xref: MEDGEN:233660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27255 {source="EFO:0005553"}
xref: NCIT:C5559 {source="DOID:4921", source="MONDO:equivalentTo"}
xref: UMLS:C1334577 {source="MEDGEN:233660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002090 {source="MONDO:Redundant", source="NCIT:C5559"} ! eccrine sweat gland neoplasm
is_a: MONDO:0002206 {source="DOID:4921", source="MONDO:Redundant", source="NCIT:C5559"} ! sweat gland cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000423 ! eccrine sweat gland
relationship: disease_has_location UBERON:0002530 {source="EFO:0000784"} ! gland

[Term]
id: MONDO:0005507
name: gingival cancer
def: "A primary or metastatic malignant neoplasm that affects the gums." [NCIT:C9317]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of gingiva" EXACT [MONDO:patterns/cancer]
synonym: "gingiva cancer" EXACT [MONDO:patterns/location]
synonym: "gum cancer" RELATED [DOID:8602]
synonym: "malignant gingiva neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant gingival neoplasm" EXACT [NCIT:C9317]
synonym: "malignant gingival tumor" EXACT [DOID:8602, NCIT:C9317]
synonym: "malignant gingival tumour" EXACT OMO:0003005 []
synonym: "malignant gum neoplasm" EXACT [NCIT:C9317]
synonym: "malignant gum tumor" EXACT [NCIT:C9317]
synonym: "malignant gum tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of gingiva" EXACT [MONDO:patterns/cancer, NCIT:C9317]
synonym: "malignant neoplasm of gum" EXACT [DOID:8602, ICD9CM:143, NCIT:C9317]
synonym: "malignant neoplasm of other sites of gum" EXACT [DOID:8602]
synonym: "malignant neoplasm of the gingiva" EXACT [NCIT:C9317]
synonym: "malignant neoplasm of the gum" EXACT [NCIT:C9317]
synonym: "malignant tumor of gingiva" EXACT [DOID:8602, NCIT:C9317]
synonym: "malignant tumor of gum" EXACT [NCIT:C9317]
synonym: "malignant tumor of the gingiva" EXACT [NCIT:C9317]
synonym: "malignant tumor of the gum" EXACT [NCIT:C9317]
synonym: "malignant tumour of gingiva" EXACT OMO:0003005 []
synonym: "malignant tumour of gum" EXACT OMO:0003005 []
synonym: "malignant tumour of the gingiva" EXACT OMO:0003005 []
synonym: "malignant tumour of the gum" EXACT OMO:0003005 []
xref: DOID:8602 {source="EFO:0005557", source="MONDO:equivalentTo"}
xref: EFO:0005557 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C03 {source="DOID:8602"}
xref: ICD10CM:C03.9 {source="DOID:8602"}
xref: ICD9:143 {source="DOID:8602", source="EFO:0005557"}
xref: ICD9:143.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:143.9 {source="DOID:8602", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10067807 {source="EFO:0005557"}
xref: MEDGEN:57549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9317 {source="DOID:8602", source="EFO:0005557", source="MONDO:equivalentTo"}
xref: SCTID:187651005 {source="DOID:8602"}
xref: SCTID:363382005 {source="DOID:8602", source="MONDO:equivalentTo"}
xref: SCTID:93819009 {source="DOID:8602"}
xref: UMLS:C0153364 {source="MEDGEN:57549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005515 {source="DOID:8602", source="NCIT:C9317"} ! oral cavity cancer
is_a: MONDO:0021086 {source="MONDO:Redundant", source="NCIT:C9317"} ! gingival neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001828 ! gingiva
relationship: disease_has_location UBERON:0001828 {source="EFO:0000784"} ! gingiva

[Term]
id: MONDO:0005508
name: hereditary multiple osteochondromas
def: "A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." [Orphanet:321]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:7035", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1233"}
subset: ordo_disorder {source="Orphanet:321"}
subset: orphanet_rare {source="Orphanet:321"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bessel-Hagen disease" EXACT [Orphanet:321]
synonym: "exostoses, multiple" EXACT []
synonym: "EXT" RELATED ABBREVIATION []
synonym: "hereditary multiple exostoses" RELATED [GARD:0007035]
synonym: "hereditary multiple exostoses 1" NARROW [DOID:206]
synonym: "hereditary multiple exostoses 2" NARROW [DOID:206]
synonym: "hereditary multiple exostoses 3" NARROW [DOID:206]
synonym: "hereditary multiple exostosis" RELATED [GARD:0007035]
synonym: "HMO" RELATED ABBREVIATION [GARD:0007035]
synonym: "multiple cartilaginous exostoses" EXACT [Orphanet:321]
synonym: "multiple congenital exostosis" EXACT [DOID:206]
synonym: "multiple exostoses" RELATED [GARD:0007035]
synonym: "multiple exostosis syndromes" EXACT [DOID:206]
synonym: "multiple ostechondromas" EXACT [DOID:206]
synonym: "osteochondromatosis syndrome" EXACT [DOID:206]
synonym: "osteochondromatosis syndrome (disorder) [ambiguous]" EXACT [DOID:206]
xref: DOID:206 {source="MONDO:equivalentTo", source="EFO:0005560"}
xref: GARD:7035 {source="MONDO:GARD"}
xref: ICD10CM:Q78.6 {source="Orphanet:321/specific", source="DOID:206", source="Orphanet:321/e", source="Orphanet:321"}
xref: icd11.foundation:1578364807 {source="MONDO:equivalentTo", source="Orphanet:321", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:4612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005097 {source="DOID:206", source="MONDO:equivalentTo"}
xref: NANDO:2200049 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201014 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201015 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C5183 {source="DOID:206", source="MONDO:equivalentTo", source="EFO:0005560"}
xref: NORD:1233 {source="MONDO:NORD"}
xref: OMIMPS:133700 {source="MONDO:equivalentTo"}
xref: Orphanet:321 {source="DOID:206", source="MONDO:equivalentTo", source="GARD:0007035"}
xref: SCTID:16535008 {source="DOID:206"}
xref: SCTID:205479007 {source="DOID:206"}
xref: SCTID:240186007 {source="DOID:206"}
xref: SCTID:254044004 {source="DOID:206", source="MONDO:equivalentTo", source="EFO:0005560"}
xref: SCTID:716742001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:84852005 {source="DOID:206"}
xref: UMLS:C0015306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4612"}
is_a: MONDO:0002181 {source="DOID:206", source="NCIT:C5183"} ! exostosis
is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:321"} ! neoplasm
is_a: MONDO:0015356 {source="MESH:D005097", source="NCIT:C5183"} ! hereditary neoplastic syndrome
is_a: MONDO:0019060 {source="Orphanet:321"} ! bone neoplasm
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:321", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015959"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:133700"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas" xsd:anyURI {source="GARD:0007035"}

[Term]
id: MONDO:0005509
name: histiocytoma
def: "A mesenchymal tumor composed of fibroblastic and histiocytic cells." [NCIT:C35765]
subset: otar {source="MONDO:OTAR"}
synonym: "histiocytoma" EXACT [NCIT:C35765]
xref: DOID:4231 {source="MONDO:equivalentTo", source="EFO:0005561"}
xref: EFO:0005561 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8831/0 {source="NCIT:C35765"}
xref: MEDGEN:267592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D051642 {source="MONDO:equivalentTo", source="DOID:4231", source="EFO:0005561"}
xref: NCIT:C35765 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4231", source="EFO:0005561"}
xref: SCTID:128741006 {source="DOID:4231", source="EFO:0005561"}
xref: SCTID:154614002 {source="DOID:4231", source="EFO:0005561"}
xref: SCTID:189773000 {source="DOID:4231", source="EFO:0005561"}
xref: SCTID:302843004 {source="DOID:4231", source="EFO:0005561"}
xref: SCTID:72079004 {source="DOID:4231", source="EFO:0005561"}
xref: UMLS:C1509147 {source="MEDGEN:267592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="DOID:4231/inferred", source="EFO:0005561/inferred", source="MESH:D051642/inferred", source="NCIT:C35765/inferred"} ! neoplasm

[Term]
id: MONDO:0005510
name: hydronephrosis
def: "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." [EFO:0005562]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11111 {source="MONDO:equivalentTo", source="EFO:0005562"}
xref: EFO:0005562 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N13.30 {source="DOID:11111"}
xref: ICD9:591 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11111", source="EFO:0005562"}
xref: MEDGEN:42531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006869 {source="MONDO:equivalentTo", source="DOID:11111", source="EFO:0005562"}
xref: NCIT:C26796 {source="MONDO:equivalentTo", source="DOID:11111", source="EFO:0005562"}
xref: SCTID:155866001 {source="DOID:11111"}
xref: SCTID:197791000 {source="DOID:11111"}
xref: SCTID:43064006 {source="MONDO:equivalentTo", source="DOID:11111", source="EFO:0005562"}
xref: UMLS:C0020295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42531"}
is_a: MONDO:0003330 {source="DOID:11111", source="NCIT:C26796"} ! urinary tract obstruction
is_a: MONDO:0005240 {source="EFO:0005562", source="MESH:D006869"} ! kidney disorder

[Term]
id: MONDO:0005511
name: janus kinase-3 deficiency
def: "Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." [EFO:0005565]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0060008 {source="EFO:0005565", source="MONDO:equivalentTo"}
xref: EFO:0005565 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: Wikipedia:Janus_kinase_3_deficiency {source="EFO:0005565"}
is_a: MONDO:0015974 {source="DOID:0060008"} ! severe combined immunodeficiency

[Term]
id: MONDO:0005512
name: malignant peritoneal mesothelioma
def: "An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites." [EFO:0005567]
subset: gard_rare {source="GARD:20102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168811"}
subset: orphanet_rare {source="Orphanet:168811"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "advanced malignant mesothelioma of peritoneum" EXACT [DOID:1788, NCIT:C8704]
synonym: "advanced malignant mesothelioma of the peritoneum" EXACT [NCIT:C8704]
synonym: "advanced malignant peritoneal mesothelioma" EXACT [DOID:1788]
synonym: "advanced peritoneal malignant mesothelioma" EXACT [NCIT:C8704]
synonym: "diffuse malignant peritoneal mesothelioma" EXACT [Orphanet:168811]
synonym: "malignant mesothelioma (disease) of peritoneum" EXACT []
synonym: "malignant mesothelioma of peritoneum" EXACT [DOID:1788]
synonym: "malignant peritoneal mesothelioma, advanced" EXACT [NCIT:C8704]
synonym: "peritoneal mesothelioma" RELATED [DOID:1788]
synonym: "peritoneal mesothelioma (disease), malignant" EXACT [MONDO:patterns/malignant]
synonym: "peritoneum malignant mesothelioma (disease)" EXACT [MONDO:patterns/location]
synonym: "primary malignant peritoneal mesothelioma" EXACT [Orphanet:168811]
xref: DOID:1788 {source="EFO:0005567", source="MONDO:equivalentTo"}
xref: EFO:0005567 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20102 {source="MONDO:GARD"}
xref: ICD10CM:C45.1 {source="Orphanet:168811", source="Orphanet:168811/e"}
xref: MedDRA:10056558 {source="Orphanet:168811", source="Orphanet:168811/e"}
xref: MEDGEN:83406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8704 {source="MONDO:equivalentTo"}
xref: NCIT:C9350 {source="EFO:0005567"}
xref: Orphanet:168811 {source="MONDO:equivalentTo"}
xref: UMLS:C0346109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83406"}
is_a: MONDO:0002087 {source="DOID:1788", source="MONDO:Redundant", source="NCIT:C8704/inferred"} ! peritoneum cancer
is_a: MONDO:0006292 {source="DOID:1788", source="MONDO:Redundant", source="NCIT:C8704/inferred"} ! malignant mesothelioma
is_a: MONDO:0006362 {source="MONDO:Redundant", source="NCIT:C8704/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! peritoneal mesothelioma
intersection_of: MONDO:0006292 ! malignant mesothelioma
intersection_of: disease_has_location UBERON:0002358 ! peritoneum
relationship: disease_has_location UBERON:0002358 {source="EFO:0000784"} ! peritoneum

[Term]
id: MONDO:0005513
name: obsolete methylmalonic aciduria and homocystinuria type cblE
is_obsolete: true
replaced_by: MONDO:0009354

[Term]
id: MONDO:0005514
name: nanophthalmia
def: "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." [Orphanet:35612]
subset: gard_rare {source="GARD:16637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35612"}
subset: ordo_malformation_syndrome {source="Orphanet:35612"}
subset: orphanet_rare {source="Orphanet:35612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080634 {source="MONDO:equivalentTo"}
xref: GARD:16637 {source="MONDO:GARD"}
xref: MEDGEN:901455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:600165 {source="MONDO:equivalentTo", source="DOID:0080634"}
xref: Orphanet:35612 {source="MONDO:equivalentTo", source="DOID:10629", source="DOID:0080634"}
xref: SCTID:716775009 {source="MONDO:equivalentTo"}
xref: UMLS:C4274282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901455"}
is_a: MONDO:0016764 {source="Orphanet:35612"} ! isolated anophthalmia-microphthalmia syndrome
is_a: MONDO:0021129 {source="DOID:0080634", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! microphthalmia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600165"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4626" xsd:anyURI

[Term]
id: MONDO:0005515
name: oral cavity cancer
def: "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas." [NCIT:C9314]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of oral cavity" EXACT [MONDO:patterns/cancer]
synonym: "malignant mouth neoplasm" EXACT [NCIT:C9314]
synonym: "malignant mouth tumor" EXACT [NCIT:C9314]
synonym: "malignant mouth tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of anterior portion of floor of mouth" NARROW [DOID:8618]
synonym: "malignant neoplasm of floor of mouth" NARROW [DOID:8618, MTH:NOCODE]
synonym: "malignant neoplasm of lateral floor of mouth" NARROW [DOID:8618, MTH:U001372]
synonym: "malignant neoplasm of lateral portion of floor of mouth" NARROW [DOID:8618]
synonym: "malignant neoplasm of mouth" EXACT [NCIT:C9314]
synonym: "malignant neoplasm of oral cavity" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the mouth" EXACT [NCIT:C9314]
synonym: "malignant oral cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9314]
synonym: "malignant oral cavity tumor" EXACT [NCIT:C9314]
synonym: "malignant oral cavity tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of anterior floor of mouth" EXACT [DOID:8618]
synonym: "malignant tumor of lateral floor of mouth" EXACT [DOID:8618]
synonym: "malignant tumor of mouth" EXACT [NCIT:C9314]
synonym: "malignant tumor of oral cavity" EXACT []
synonym: "malignant tumor of the floor of the mouth" NARROW [DOID:8618, NCIT:C9318]
synonym: "malignant tumor of the mouth" EXACT [NCIT:C9314]
synonym: "malignant tumour of anterior floor of mouth" EXACT OMO:0003005 []
synonym: "malignant tumour of lateral floor of mouth" EXACT OMO:0003005 []
synonym: "malignant tumour of mouth" EXACT OMO:0003005 []
synonym: "malignant tumour of oral cavity" EXACT OMO:0003005 []
synonym: "malignant tumour of the floor of the mouth" NARROW OMO:0003005 []
synonym: "malignant tumour of the mouth" EXACT OMO:0003005 []
synonym: "mouth cancer" RELATED []
synonym: "oral cavity cancer" EXACT [MONDO:patterns/location]
xref: DOID:8618 {source="MONDO:equivalentTo", source="EFO:0005570"}
xref: EFO:0005570 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C04 {source="DOID:8618"}
xref: ICD10CM:C04.0 {source="DOID:8618"}
xref: ICD10CM:C04.1 {source="DOID:8618"}
xref: ICD10CM:C04.9 {source="DOID:8618"}
xref: ICD9:144 {source="DOID:8618", source="EFO:0005570"}
xref: ICD9:144.0 {source="DOID:8618"}
xref: ICD9:144.1 {source="DOID:8618"}
xref: ICD9:144.9 {source="MONDO:relatedTo", source="DOID:8618"}
xref: ICD9:145.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:145.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:149.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9314 {source="MONDO:equivalentTo", source="EFO:0005570"}
xref: SCTID:187652003 {source="DOID:8618"}
xref: SCTID:187653008 {source="DOID:8618"}
xref: SCTID:187656000 {source="DOID:8618"}
xref: SCTID:363385007 {source="MONDO:relatedTo", source="DOID:8618"}
xref: SCTID:363505006 {source="MONDO:equivalentTo"}
xref: SCTID:93672006 {source="DOID:8618"}
xref: SCTID:93802007 {source="DOID:8618"}
xref: SCTID:93860002 {source="DOID:8618"}
xref: UMLS:C0153381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56298"}
is_a: MONDO:0002516 {source="DOID:8618", source="MONDO:Entailed", source="MONDO:Redundant"} ! digestive system cancer
is_a: MONDO:0021245 {source="MONDO:Redundant", source="NCIT:C9314"} ! oral cavity neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000167 ! oral cavity

[Term]
id: MONDO:0005516
name: osteochondrodysplasia
def: "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." [NCIT:C84978]
subset: otar {source="MONDO:OTAR"}
synonym: "cartilage development disorder" NARROW [DOID:2256, NCIT:C34466]
synonym: "chondrodystrophy" RELATED EXCLUDE [DOID:2256]
synonym: "congenital anomaly of cartilage" NARROW [DOID:2256]
synonym: "congenital skeletal dysplasia" EXACT [NCIT:C84978]
synonym: "osteochondrodysplasia" EXACT [NCIT:C84978]
synonym: "osteochondrodysplasia syndrome" EXACT [DOID:2256]
synonym: "skeletal dysplasia" RELATED [NCIT:C84978]
xref: DOID:2256 {source="MONDO:equivalentTo", source="EFO:0005571"}
xref: EFO:0005571 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q78.9 {source="DOID:2256"}
xref: ICD9:756.4 {source="DOID:2256", source="EFO:0005571"}
xref: MEDGEN:10495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010009 {source="DOID:2256", source="MONDO:equivalentTo"}
xref: NCIT:C34466 {source="DOID:2256"}
xref: NCIT:C84978 {source="DOID:2256", source="MONDO:equivalentTo", source="EFO:0005571"}
xref: SCTID:105985007 {source="DOID:2256", source="MONDO:equivalentTo"}
xref: SCTID:205510001 {source="DOID:2256"}
xref: SCTID:205539001 {source="DOID:2256"}
xref: SCTID:240190009 {source="DOID:2256", source="EFO:0005571"}
xref: SCTID:268350005 {source="DOID:2256"}
xref: SCTID:378007 {source="DOID:2256"}
xref: SCTID:67988000 {source="DOID:2256"}
xref: UMLS:C0029422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10495"}
is_a: MONDO:0005497 {source="DOID:2256", source="EFO:0005571"} ! bone development disease

[Term]
id: MONDO:0005517
name: pharynx cancer
def: "A primary or metastatic malignant neoplasm that affects the pharynx." [NCIT:C7545]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of chordate pharynx" EXACT [MONDO:patterns/cancer]
synonym: "cancer of pharynx" EXACT [MONDO:patterns/cancer]
synonym: "chordate pharynx cancer" EXACT []
synonym: "malignant chordate pharynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of chordate pharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant pharyngeal neoplasm" EXACT [NCIT:C7545]
synonym: "malignant pharyngeal tumor" EXACT [NCIT:C7545]
synonym: "malignant pharyngeal tumour" EXACT OMO:0003005 []
synonym: "malignant pharynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7545]
synonym: "malignant pharynx tumor" EXACT [NCIT:C7545]
synonym: "malignant pharynx tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of pharynx" EXACT [NCIT:C7545]
synonym: "malignant tumor of the pharynx" EXACT [NCIT:C7545]
synonym: "malignant tumour of pharynx" EXACT OMO:0003005 []
synonym: "malignant tumour of the pharynx" EXACT OMO:0003005 []
synonym: "pharyngeal cancer" RELATED [DOID:0060119]
synonym: "pharyngeal neoplasm" EXACT [DOID:0060119]
synonym: "pharynx cancer" EXACT [MONDO:patterns/location]
synonym: "pharynx neoplasm" BROAD [DOID:0060119]
xref: DOID:0060119 {source="EFO:0005577", source="MONDO:equivalentTo"}
xref: EFO:0005577 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:57554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010610 {source="MONDO:equivalentTo", source="DOID:0060119"}
xref: NCIT:C3325 {source="DOID:0060119"}
xref: NCIT:C7545 {source="EFO:0005577", source="MONDO:equivalentTo"}
xref: SCTID:126685009 {source="DOID:0060119"}
xref: SCTID:363507003 {source="EFO:0005577"}
xref: SCTID:95001001 {source="DOID:0060119"}
xref: UMLS:C0153405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57554"}
is_a: MONDO:0002516 {source="DOID:0060119", source="MONDO:Entailed", source="MONDO:Redundant"} ! digestive system cancer
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C7545"} ! pharynx neoplasm
is_a: MONDO:0021310 {source="NCIT:C7545"} ! malignant tumor of neck
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001042 ! chordate pharynx
relationship: disease_has_location UBERON:0001042 {source="EFO:0000784"} ! chordate pharynx

[Term]
id: MONDO:0005518
name: pseudohermaphroditism
def: "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex." [NCIT:C124575]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "indeterminate sex and pseudohermaphroditism" RELATED [DOID:3765]
xref: DOID:3765 {source="EFO:0005579", source="MONDO:equivalentTo"}
xref: EFO:0005579 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q56 {source="MONDO:relatedTo", source="DOID:3765"}
xref: ICD10CM:Q56.3 {source="MONDO:equivalentToOther", source="DOID:3765"}
xref: ICD9:752.7 {source="EFO:0005579", source="DOID:3765"}
xref: MEDGEN:10991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012734 {source="DOID:3765"}
xref: NCIT:C124575 {source="MONDO:equivalentTo"}
xref: SCTID:204895009 {source="DOID:3765"}
xref: SCTID:204897001 {source="DOID:3765"}
xref: SCTID:268229003 {source="DOID:3765"}
xref: SCTID:268328009 {source="DOID:3765"}
xref: SCTID:75164001 {source="EFO:0005579", source="MONDO:equivalentTo", source="DOID:3765"}
xref: UMLS:C0033804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10991"}
xref: Wikipedia:Pseudohermaphroditism {source="EFO:0005579"}
is_a: MONDO:0002145 {source="DOID:3765", source="MONDO:indirect"} ! disorder of sexual differentiation
is_a: MONDO:0024665 {source="ICD10CM:Q56.3"} ! indeterminate sex and/or pseudohermaphroditism

[Term]
id: MONDO:0005519
name: renal pelvis carcinoma
def: "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." [EFO:0005582]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of renal pelvis" BROAD [MONDO:patterns/cancer]
synonym: "carcinoma of kidney pelvis" EXACT [DOID:4919, NCIT:C6142]
synonym: "carcinoma of renal pelvis" EXACT [MONDO:patterns/carcinoma, NCIT:C6142]
synonym: "carcinoma of the kidney pelvis" EXACT [NCIT:C6142]
synonym: "carcinoma of the renal pelvis" EXACT [NCIT:C6142]
synonym: "kidney pelvis carcinoma" EXACT [NCIT:C6142]
synonym: "kidney renal pelvis cancer" EXACT [NCIT:C6142]
synonym: "malignant neoplasm of renal pelvis" BROAD [DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer]
synonym: "malignant renal pelvis neoplasm" BROAD [DOID:4919, MONDO:patterns/cancer, NCIT:C7525]
synonym: "malignant tumor of renal pelvis" BROAD EXCLUDE [DOID:4919]
synonym: "malignant tumour of renal pelvis" BROAD OMO:0003005 []
synonym: "renal pelvis cancer" BROAD [DOID:4919, MONDO:patterns/location]
synonym: "renal pelvis carcinoma" EXACT [NCIT:C6142]
xref: DOID:4919 {source="MONDO:equivalentTo", source="EFO:0005582"}
xref: EFO:0005582 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C65 {source="DOID:4919", source="MONDO:equivalentTo"}
xref: ICD9:189.1 {source="DOID:4919", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005582"}
xref: MEDGEN:235548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6142 {source="DOID:4919", source="MONDO:equivalentTo", source="EFO:0005582"}
xref: NCIT:C7525 {source="DOID:4919"}
xref: SCTID:188254006 {source="DOID:4919"}
xref: SCTID:363457009 {source="DOID:4919", source="MONDO:equivalentTo"}
xref: SCTID:93985007 {source="DOID:4919"}
xref: UMLS:C1335749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235548"}
is_a: MONDO:0003719 {source="MONDO:Entailed", source="NCIT:C6142/inferred"} ! renal pelvis neoplasm
is_a: MONDO:0005206 {source="MONDO:Redundant", source="NCIT:C6142"} ! renal carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis
relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney

[Term]
id: MONDO:0005520
name: rickets
def: "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." [NCIT:P378]
subset: gard_rare {source="GARD:5700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "active rickets" RELATED [DOID:10609]
synonym: "hypovitaminosis D" RELATED [GARD:0005700]
synonym: "nutritional rickets" RELATED [GARD:0005700]
synonym: "rachitis" EXACT [NCIT:C26878]
synonym: "rickets" EXACT [MONDO:ambiguous]
synonym: "rickets (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "vitamin D deficiency disease" RELATED [GARD:0005700]
synonym: "vitamin D hydroxylation-deficient rickets" EXACT [DOID:10609]
synonym: "vitamin D-dependent rickets" RELATED EXCLUDE [DOID:10609]
synonym: "vitamin-D deficiency rickets" RELATED [GARD:0005700]
xref: DOID:10609 {source="MONDO:equivalentTo", source="EFO:0005583"}
xref: EFO:0005583 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5700 {source="MONDO:GARD"}
xref: HP:0002748 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E55.0 {source="DOID:10609"}
xref: ICD9:268.0 {source="DOID:10609"}
xref: MEDGEN:48470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012279 {source="MONDO:equivalentTo", source="DOID:10609", source="EFO:0005583"}
xref: NCIT:C26878 {source="MONDO:equivalentTo", source="DOID:10609", source="EFO:0005583"}
xref: Orphanet:289157 {source="DOID:10609"}
xref: SCTID:154728003 {source="DOID:10609"}
xref: SCTID:190639009 {source="DOID:10609"}
xref: SCTID:190640006 {source="DOID:10609"}
xref: SCTID:41345002 {source="MONDO:equivalentTo", source="DOID:10609", source="EFO:0005583"}
xref: SCTID:68295002 {source="MONDO:relatedTo", source="DOID:10609"}
xref: UMLS:C0035579 {source="MEDGEN:48470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000833 {source="DOID:10609", source="PMID:20936937"} ! bone remodeling disease
relationship: disease_has_feature HP:0100512 ! Decreased circulating vitamin D concentration
property_value: IAO:0000589 "rickets (disease)" xsd:string

[Term]
id: MONDO:0005521
name: obsolete shigellosis
is_obsolete: true
replaced_by: MONDO:0019345

[Term]
id: MONDO:0005522
name: small intestine carcinoma
def: "A carcinoma that arises from epithelial cells of the small intestine" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of small bowel" BROAD [NCIT:C7724]
synonym: "cancer of the small bowel" BROAD [DOID:4907, NCIT:C7724]
synonym: "carcinoma of small bowel" EXACT [NCIT:C7724]
synonym: "carcinoma of small intestine" EXACT [MONDO:patterns/carcinoma, NCIT:C7724]
synonym: "carcinoma of the small bowel" EXACT [NCIT:C7724]
synonym: "carcinoma of the small intestine" EXACT [NCIT:C7724]
synonym: "small bowel cancer" BROAD [DOID:4907, NCIT:C7724]
synonym: "small bowel carcinoma" EXACT [NCIT:C7724]
synonym: "small intestinal cancer" BROAD [NCIT:C7724]
synonym: "small intestinal carcinoma" EXACT [DOID:4907, NCIT:C7724]
synonym: "small intestine cancer" BROAD [NCIT:C7724]
synonym: "small intestine cancer, NOS" EXACT [NCIT:C7724]
synonym: "small intestine carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4907 {source="EFO:0005588", source="MONDO:equivalentTo"}
xref: EFO:0005588 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:65952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7724 {source="EFO:0005588", source="MONDO:equivalentTo", source="ONCOTREE:SIC", source="DOID:4907"}
xref: ONCOTREE:SIC {source="MONDO:equivalentTo"}
xref: SCTID:448664009 {source="MONDO:equivalentTo"}
xref: UMLS:C0238196 {source="MEDGEN:65952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000956 {source="DOID:4907", source="MONDO:Redundant", source="NCIT:C7724"} ! small intestine cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C7724"} ! digestive system carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine
relationship: disease_has_location UBERON:0002108 {source="EFO:0000784"} ! small intestine

[Term]
id: MONDO:0005523
name: steroid inherited metabolic disorder
def: "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero." [MESH:D043202]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:1701 {source="MONDO:equivalentTo", source="EFO:0005590"}
xref: EFO:0005590 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:219772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D043202 {source="MONDO:equivalentTo", source="DOID:1701"}
xref: UMLS:C1257809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:219772"}
is_a: MONDO:0002525 {source="DOID:1701"} ! inherited lipid metabolism disorder

[Term]
id: MONDO:0005524
name: sweat gland carcinoma
def: "A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." [EFO:0005591]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of sweat gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6938]
synonym: "carcinoma of the sweat gland" EXACT [DOID:5667, NCIT:C6938]
synonym: "carcinoma, sweat gland, malignant" EXACT [NCIT:C6938]
synonym: "sweat gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6938]
synonym: "sweat gland carcinoma/apocrine eccrine carcinoma" RELATED [ONCOTREE:AECA]
xref: DOID:5667 {source="MONDO:equivalentTo", source="EFO:0005591"}
xref: EFO:0005591 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8400/3 {source="NCIT:C6938"}
xref: MEDGEN:234685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6938 {source="DOID:5667", source="MONDO:equivalentTo", source="EFO:0005591", source="MONDO:exact-label-match"}
xref: ONCOTREE:AECA {source="MONDO:equivalentTo"}
xref: SCTID:254707006 {source="DOID:5667"}
xref: SCTID:254708001 {source="DOID:5667"}
xref: SCTID:32272007 {source="DOID:5667"}
xref: UMLS:C1412016 {source="MEDGEN:234685", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002206 {source="DOID:5667", source="MONDO:Redundant", source="NCIT:C6938"} ! sweat gland cancer
is_a: MONDO:0002656 {source="DOID:5667", source="MONDO:Redundant", source="NCIT:C6938/inferred"} ! skin carcinoma
is_a: MONDO:0004970 {source="NCIT:C6938"} ! adenocarcinoma
is_a: MONDO:0006973 {source="MONDO:Redundant", source="NCIT:C6938"} ! skin appendage carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001820 ! sweat gland

[Term]
id: MONDO:0005525
name: T-cell leukemia
def: "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood." [MESH:D015458]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukaemia (disease) of T cell" EXACT OMO:0003005 []
synonym: "leukemia (disease) of T cell" EXACT []
synonym: "T cell leukaemia (disease)" EXACT OMO:0003005 []
synonym: "T cell leukemia (disease)" EXACT [MONDO:patterns/location]
xref: DOID:715 {source="MONDO:equivalentObsolete", source="EFO:0005592"}
xref: EFO:0005592 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015458 {source="MONDO:equivalentTo", source="DOID:715", source="EFO:0005592"}
xref: NCIT:C8694 {source="MONDO:relatedTo", source="EFO:0005592"}
xref: SCTID:703821009 {source="EFO:0005592"}
xref: UMLS:C0023492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6064"}
is_a: MONDO:0004805 {source="DOID:715", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder
is_a: MONDO:0005402 {source="DOID:715", source="EFO:0005592", source="MESH:D015458"} ! lymphoid leukemia
intersection_of: MONDO:0005059 ! leukemia
intersection_of: disease_has_location CL:0000084 ! T cell

[Term]
id: MONDO:0005526
name: tetanus
def: "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites." [NCIT:P378]
comment: We treat tetanus and infection due to Clostridium tetani as synonymous
subset: gard_rare {source="GARD:5144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3299"}
subset: orphanet_rare {source="Orphanet:3299"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "clostridial tetanus" EXACT [DOID:11338]
synonym: "Clostridium tetani caused infectious disease of the nervous system" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Clostridium tetani infectious disease of the nervous system" EXACT []
synonym: "infection due to Clostridium tetani" EXACT [DOID:11338]
synonym: "lockjaw" RELATED [GARD:0005144]
xref: DOID:11338 {source="MONDO:equivalentTo", source="EFO:0005593"}
xref: EFO:0005593 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5144 {source="MONDO:GARD"}
xref: ICD10CM:A33 {source="Orphanet:3299", source="Orphanet:3299/btnt"}
xref: ICD10CM:A34 {source="Orphanet:3299", source="Orphanet:3299/btnt"}
xref: ICD10CM:A35 {source="Orphanet:3299", source="DOID:11338", source="Orphanet:3299/btnt"}
xref: ICD9:037 {source="DOID:11338", source="EFO:0005593"}
xref: MedDRA:10043376 {source="Orphanet:3299", source="Orphanet:3299/e"}
xref: MEDGEN:21489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013742 {source="Orphanet:3299", source="DOID:11338", source="MONDO:equivalentTo", source="Orphanet:3299/e", source="EFO:0005593"}
xref: NCIT:C85185 {source="DOID:11338", source="MONDO:equivalentTo", source="EFO:0005593"}
xref: Orphanet:3299 {source="MONDO:equivalentTo"}
xref: SCTID:154312006 {source="DOID:11338"}
xref: SCTID:276202003 {source="DOID:11338", source="MONDO:equivalentTo"}
xref: SCTID:76902006 {source="DOID:11338", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0005593"}
xref: UMLS:C0039614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21489"}
is_a: MONDO:0000314 {source="DOID:11338"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11338/inferred", source="EFO:0005593", source="MESH:D013742/inferred", source="MONDO:Redundant", source="NCIT:C85185", source="Orphanet:3299"} ! bacterial infectious disease
is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:3299"} ! infectious disorder of the nervous system
intersection_of: MONDO:0020010 ! infectious disorder of the nervous system
intersection_of: disease_has_infectious_agent NCBITaxon:1513 ! Clostridium tetani
relationship: disease_has_infectious_agent NCBITaxon:1513 {source="MONDO:Wikidata"} ! Clostridium tetani
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5144/tetanus" xsd:anyURI {source="GARD:0005144"}

[Term]
id: MONDO:0005527
name: toxic encephalopathy
def: "A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "neurotoxicity" EXACT [DOID:3602, NCIT:C27961]
synonym: "neurotoxicity syndrome" EXACT [DOID:3602]
synonym: "neurotoxicity syndromes" RELATED [GARD:0007199]
xref: DOID:3602 {source="MONDO:equivalentTo", source="EFO:0005595"}
xref: EFO:0005595 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G92 {source="MONDO:equivalentTo"}
xref: ICD9:349.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005595"}
xref: MESH:D020258 {source="MONDO:equivalentTo", source="DOID:3602"}
xref: NCIT:C27961 {source="MONDO:equivalentTo", source="DOID:3602", source="EFO:0005595"}
xref: SCTID:19466003 {source="DOID:3602"}
xref: SCTID:28394000 {source="MONDO:equivalentTo", source="EFO:0005595"}
xref: Wikipedia:Toxic_encephalopathy {source="EFO:0005595"}
is_a: MONDO:0005071 {source="DOID:3602", source="EFO:0005595", source="ICD10CM:G92/inferred", source="MESH:D020258", source="NCIT:C27961/inferred"} ! nervous system disorder

[Term]
id: MONDO:0005528
name: inborn vitamin metabolic disorder
def: "An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inborn error of vitamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn vitamin metabolic process disorder" EXACT []
synonym: "rare inborn error of vitamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "vitamin metabolic disorder" RELATED [DOID:0050718]
xref: DOID:0050718 {source="EFO:0005596", source="MONDO:equivalentTo"}
xref: EFO:0005596 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0019052 {source="DOID:0050718", source="MONDO:Redundant"} ! inborn errors of metabolism
is_a: MONDO:0024298 {source="https://orcid.org/0000-0002-6601-2165"} ! vitamin deficiency disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006766 ! vitamin metabolic process

[Term]
id: MONDO:0005529
name: obsolete methylmalonic aciduria and homocystinuria type cblG
is_obsolete: true
replaced_by: MONDO:0009609

[Term]
id: MONDO:0005530
name: opiate dependence
def: "Disorders related or resulting from abuse or mis-use of opioids." [MESH:D009293]
subset: otar {source="MONDO:OTAR"}
synonym: "narcotism" RELATED []
synonym: "opioid dependence" EXACT []
synonym: "opioid type dependence" EXACT [DOID:2559, ICD9CM:304.0]
xref: DOID:2559 {source="EFO:0005611", source="MONDO:equivalentTo"}
xref: EFO:0005611 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F11.2 {source="DOID:2559"}
xref: ICD9:304.0 {source="DOID:2559"}
xref: ICD9:304.00 {source="DOID:2559"}
xref: MEDGEN:99372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009293 {source="MONDO:equivalentTo", source="DOID:2559"}
xref: SCTID:191817000 {source="DOID:2559"}
xref: SCTID:191818005 {source="DOID:2559"}
xref: SCTID:192220003 {source="DOID:2559"}
xref: SCTID:75544000 {source="MONDO:equivalentTo", source="DOID:2559"}
xref: UMLS:C0524662 {source="MEDGEN:99372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005303 {source="DOID:2559", source="EFO:0005611"} ! drug dependence

[Term]
id: MONDO:0005531
name: morphine dependence
def: "Strong dependence, both physiological and emotional, upon morphine." [MESH:D009021]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2560 {source="EFO:0005612", source="MONDO:equivalentTo"}
xref: EFO:0005612 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:7706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009021 {source="DOID:2560", source="EFO:0005612", source="MONDO:equivalentTo"}
xref: SCTID:191817000 {source="DOID:2560"}
xref: SCTID:231479000 {source="DOID:2560", source="EFO:0005612", source="MONDO:equivalentTo"}
xref: SCTID:286934009 {source="DOID:2560"}
xref: UMLS:C0026552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7706"}
is_a: MONDO:0005530 {source="DOID:2560", source="EFO:0005612", source="MESH:D009021"} ! opiate dependence

[Term]
id: MONDO:0005532
name: Crohn's colitis
def: "Crohn's disease affecting the colon." [NCIT:C35211]
subset: otar {source="MONDO:OTAR"}
synonym: "Crohn colitis" EXACT [NCIT:C35211]
xref: DOID:0060192 {source="EFO:0005622", source="MONDO:equivalentTo"}
xref: EFO:0005622 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K50.1 {source="DOID:0060192"}
xref: ICD9:555.1 {source="DOID:0060192"}
xref: MEDGEN:57618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003424 {source="DOID:0060192"}
xref: NANDO:1200446 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35211 {source="MONDO:equivalentTo", source="DOID:0060192"}
xref: NCIT:C37262 {source="DOID:0060192"}
xref: SCTID:155762006 {source="DOID:0060192"}
xref: SCTID:196981009 {source="DOID:0060192"}
xref: SCTID:196982002 {source="DOID:0060192"}
xref: SCTID:266446008 {source="DOID:0060192"}
xref: SCTID:50440006 {source="DOID:0060192"}
xref: SCTID:7620006 {source="DOID:0060192"}
xref: UMLS:C0156147 {source="MEDGEN:57618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005011 {source="DOID:0060192", source="EFO:0005622", source="NCIT:C35211"} ! Crohn disease
relationship: disease_has_location UBERON:0000059 {source="EFO:0000784"} ! large intestine

[Term]
id: MONDO:0005533
name: distal colitis
def: "Particular variety of ulcerative colitis where only the left half of the colon is inflamed." [EFO:0005623]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of left colon" EXACT []
synonym: "left colon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: EFO:0005623 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:678582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200451 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:373639002 {source="EFO:0005623", source="MONDO:equivalentTo"}
xref: UMLS:C0860168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:678582"}
is_a: MONDO:0005101 {source="EFO:0005623"} ! ulcerative colitis
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0008971 ! left colon

[Term]
id: MONDO:0005534
name: ileocolitis
def: "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon." [EFO:0005624]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060190 {source="MONDO:equivalentTo", source="EFO:0005624"}
xref: EFO:0005624 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K52.9 {source="DOID:0060190"}
xref: MedDRA:10062647 {source="DOID:0060190"}
xref: MEDGEN:184943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200447 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C0949272 {source="MEDGEN:184943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005011 ! Crohn disease
intersection_of: disease_has_inflammation_site UBERON:0001155 ! colon
intersection_of: disease_has_inflammation_site UBERON:0002116 ! ileum
relationship: disease_has_location UBERON:0001155 {source="EFO:0000784"} ! colon
relationship: disease_has_location UBERON:0002116 {source="EFO:0000784"} ! ileum

[Term]
id: MONDO:0005535
name: oral Crohn disease
def: "Crohn's disease affecting the mouth." [EFO:0005625]
synonym: "oral Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: MEDGEN:585601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196578009 {source="MONDO:equivalentTo"}
xref: UMLS:C0399497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:585601"}
is_a: MONDO:0005011 {source="EFO:0005625"} ! Crohn disease
relationship: disease_has_location UBERON:0000165 {source="EFO:0000784"} ! mouth

[Term]
id: MONDO:0005536
name: pancolitis
def: "Ulcerative colitis that involves the entire colon." [https://www.medicinenet.com/script/main/art.asp?articlekey=7366]
subset: otar {source="MONDO:OTAR"}
synonym: "pan-ulcerative colitis" EXACT [https://www.medicinenet.com/script/main/art.asp?articlekey=7366]
synonym: "universal colitis" EXACT [https://www.medicinenet.com/script/main/art.asp?articlekey=7366]
xref: EFO:0005626 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1720692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200450 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C0868908 {source="MEDGEN:1720692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005101 {source="EFO:0005626"} ! ulcerative colitis

[Term]
id: MONDO:0005537
name: perianal Crohn disease
def: "An Crohn disease involving a pathogenic inflammatory response in the anal canal." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
synonym: "perianal Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: EFO:0005627 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:574362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:235796008 {source="MONDO:equivalentTo", source="EFO:0005627"}
xref: UMLS:C0341395 {source="MEDGEN:574362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005011 {source="EFO:0005627", source="MONDO:Entailed", source="MONDO:Redundant"} ! Crohn disease
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0005011 ! Crohn disease
intersection_of: disease_has_inflammation_site UBERON:0000159 ! anal canal
relationship: disease_has_location UBERON:0001353 {source="EFO:0000784"} ! anal region

[Term]
id: MONDO:0005538
name: proctitis
def: "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "anus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of anus" EXACT []
synonym: "rectitis" EXACT [NCIT:C38011]
xref: DOID:3127 {source="MONDO:equivalentTo", source="EFO:0005628"}
xref: EFO:0005628 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K62.89 {source="DOID:3127"}
xref: ICD9:569.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:46113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011349 {source="MONDO:equivalentTo", source="DOID:3127", source="EFO:0005628"}
xref: NCIT:C38011 {source="MONDO:equivalentTo", source="DOID:3127", source="EFO:0005628"}
xref: SCTID:155806004 {source="DOID:3127"}
xref: SCTID:197229007 {source="DOID:3127"}
xref: SCTID:266534007 {source="DOID:3127"}
xref: SCTID:3951002 {source="MONDO:equivalentTo", source="DOID:3127", source="EFO:0005628"}
xref: UMLS:C0033246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:46113"}
is_a: MONDO:0001593 {source="DOID:3127", source="MESH:D011349", source="MONDO:Redundant"} ! rectal disorder
is_a: MONDO:0002519 {source="MONDO:Redundant", source="NCIT:C38011/inferred"} ! anus disorder
is_a: MONDO:0005265 {source="EFO:0005628"} ! inflammatory bowel disease
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001245 ! anus
relationship: disease_has_location UBERON:0001052 {source="EFO:0000784"} ! rectum

[Term]
id: MONDO:0005539
name: small bowel Crohn disease
def: "An Crohn disease involving a pathogenic inflammatory response in the small intestine." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
synonym: "small bowel Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: EFO:0005629 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:57617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200445 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C0156146 {source="MEDGEN:57617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005011 {source="EFO:0005629", source="MONDO:Entailed", source="MONDO:Redundant"} ! Crohn disease
intersection_of: MONDO:0005011 ! Crohn disease
intersection_of: disease_has_inflammation_site UBERON:0002108 ! small intestine
relationship: disease_has_location UBERON:0002108 {source="EFO:0000784"} ! small intestine

[Term]
id: MONDO:0005540
name: obsolete rectal adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0002169

[Term]
id: MONDO:0005541
name: spondylolysis
def: "A defect in the pars interarticularis of a vertebral bone." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "spondylolysis" EXACT [MONDO:ambiguous]
synonym: "spondylolysis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2300 {source="MONDO:equivalentTo", source="EFO:0005649"}
xref: EFO:0005649 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0003304 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M43.0 {source="DOID:2300"}
xref: ICD10CM:M43.00 {source="DOID:2300"}
xref: MEDGEN:21294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013169 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"}
xref: NCIT:C35034 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"}
xref: SCTID:203688008 {source="DOID:2300"}
xref: SCTID:240221008 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"}
xref: UMLS:C0038018 {source="MEDGEN:21294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000836 {source="DOID:2300"} ! disease of bone structure
relationship: disease_has_location UBERON:0001434 {source="EFO:0000784"} ! skeletal system
relationship: disease_has_location UBERON:0036266 ! pars interarticularis of vertebra
property_value: IAO:0000589 "spondylolysis (disease)" xsd:string

[Term]
id: MONDO:0005542
name: acute coronary syndrome
def: "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." [NCIT:C53652]
subset: otar {source="MONDO:OTAR"}
synonym: "acute coronary syndrome" EXACT [NCIT:C53652]
synonym: "acute coronary syndromes" RELATED [MESH:D054058]
synonym: "coronary syndrome, acute" RELATED [MESH:D054058]
synonym: "coronary syndromes, acute" RELATED [MESH:D054058]
synonym: "syndrome, acute coronary" RELATED [MESH:D054058]
synonym: "syndromes, acute coronary" RELATED [MESH:D054058]
xref: EFO:0005672 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:215295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054058 {source="MONDO:equivalentTo", source="EFO:0005672"}
xref: NCIT:C53652 {source="MONDO:equivalentTo", source="EFO:0005672"}
xref: SCTID:394659003 {source="MONDO:equivalentTo", source="EFO:0005672"}
xref: UMLS:C0948089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:215295"}
is_a: MONDO:0002254 {source="NCIT:C53652"} ! syndromic disease
is_a: MONDO:0005267 {source="MESH:D054058/inferred", source="MONDO:Entailed", source="NCIT:C53652/inferred"} ! heart disorder
is_a: MONDO:0024643 {source="NCIT:C53652"} ! myocardial disorder
is_a: MONDO:0024644 {source="MESH:D054058"} ! myocardial ischemia
relationship: disease_arises_from_feature MONDO:0005010 ! coronary artery disorder
relationship: disease_has_location UBERON:0000948 {source="EFO:0000784"} ! heart
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0005543
name: autoimmune hepatitis type 1
def: "Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA)." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/]
subset: gard_rare {source="GARD:22251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563576"}
subset: rare
synonym: "autoimmune hepatitis type 1" EXACT []
synonym: "type 1 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/]
xref: GARD:22251 {source="MONDO:GARD"}
xref: ICD9:571.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:928833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563576 {source="MONDO:equivalentTo"}
xref: SCTID:197284004 {source="MONDO:equivalentTo"}
xref: SCTID:721711009 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C4303164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928833"}
is_a: MONDO:0016264 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis

[Term]
id: MONDO:0005544
name: hippocampal sclerosis of aging
def: "Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus" [EFO:0005678]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005678 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1801569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5691287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801569"}
is_a: MONDO:0005560 ! brain disorder
relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
relationship: disease_has_location UBERON:0001954 ! Ammon's horn

[Term]
id: MONDO:0005545
name: staphylococcus aureus infection
def: "An infectious process in which the bacteria Staphylococcus aureus is present." [NCIT:C122576]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005681 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122576 {source="MONDO:equivalentTo"}
xref: NCIT:C35038 {source="EFO:0005681"}
xref: SCTID:406602003 {source="MONDO:equivalentTo"}
xref: UMLS:C1318973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232934"}
is_a: MONDO:0005113 {source="EFO:0005681", source="MONDO:Redundant", source="NCIT:C122576/inferred"} ! bacterial infectious disease
is_a: MONDO:0024313 {source="MONDO:Redundant", source="NCIT:C122576"} ! staphylococcal infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1280 ! Staphylococcus aureus

[Term]
id: MONDO:0005546
name: fibromyalgia
def: "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." [NCIT:C87497]
subset: otar {source="MONDO:OTAR"}
synonym: "fibromyalgia" EXACT [NCIT:C87497]
synonym: "fibromyalgia syndrome" EXACT [NCIT:C87497]
xref: DOID:631 {source="EFO:0005687", source="MONDO:equivalentTo"}
xref: EFO:0005687 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M79.1 {source="DOID:631"}
xref: ICD10CM:M79.7 {source="MONDO:equivalentTo", source="DOID:631"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:42018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005356 {source="EFO:0005687", source="MONDO:equivalentTo", source="DOID:631"}
xref: NCIT:C50566 {source="DOID:631"}
xref: NCIT:C87497 {source="EFO:0005687", source="MONDO:equivalentTo", source="DOID:631"}
xref: Orphanet:41842 {source="MONDO:equivalentObsolete"}
xref: SCTID:1304004 {source="DOID:631"}
xref: SCTID:13612005 {source="DOID:631"}
xref: SCTID:156727006 {source="DOID:631"}
xref: SCTID:203082005 {source="MONDO:equivalentTo", source="DOID:631"}
xref: SCTID:203101004 {source="DOID:631"}
xref: SCTID:203102006 {source="DOID:631"}
xref: SCTID:203111006 {source="DOID:631"}
xref: SCTID:203138004 {source="DOID:631"}
xref: SCTID:24693007 {source="MONDO:relatedTo", source="DOID:631"}
xref: SCTID:247365004 {source="DOID:631"}
xref: SCTID:268107007 {source="DOID:631"}
xref: SCTID:56557000 {source="DOID:631"}
xref: UMLS:C0016053 {source="MEDGEN:42018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C87497"} ! syndromic disease
is_a: MONDO:0024317 {source="https://orcid.org/0000-0002-6601-2165"} ! chronic pain syndrome
is_a: MONDO:0700007 {source="NCIT:C87497"} ! idiopathic disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0021167 {source="DOID:631", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myositis disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3170" xsd:anyURI

[Term]
id: MONDO:0005547
name: obsolete desmoplastic medulloblastoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3139" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016711

[Term]
id: MONDO:0005548
name: obsolete malignant rhabdoid tumor
is_obsolete: true
replaced_by: MONDO:0002728

[Term]
id: MONDO:0005549
name: renal cell adenocarcinoma
def: "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." [EFO:0005708]
comment: Editor note: check relationship to RCC
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of kidney" EXACT [NCIT:C9385]
synonym: "adenocarcinoma of the kidney" EXACT [NCIT:C9385]
synonym: "carcinoma, renal cell, malignant" EXACT [NCIT:C9385]
synonym: "kidney adenocarcinoma" EXACT [NCIT:C9385]
synonym: "RCC" EXACT ABBREVIATION [NCIT:C9385]
synonym: "renal cell adenocarcinoma" EXACT [NCIT:C9385]
synonym: "renal cell cancer" EXACT [NCIT:C9385]
synonym: "renal cell carcinoma" BROAD [NCIT:C9385]
synonym: "renal cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C9385]
synonym: "renal cell carcinoma, stage unspecified" EXACT [NCIT:C9385]
xref: EFO:0005708 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8311/1 {source="NCIT:C9385"}
xref: ICDO:8312/3 {source="NCIT:C9385"}
xref: NANDO:2200045 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9385 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="EFO:0005708", source="MONDO:0005549/inferred", source="MONDO:Redundant", source="NCIT:C9385"} ! adenocarcinoma
is_a: MONDO:0005206 {source="MONDO:0005549/inferred", source="MONDO:Redundant", source="NCIT:C9385"} ! renal carcinoma
relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney

[Term]
id: MONDO:0005550
name: infectious disease
def: "A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact." [NCIT:C26726]
comment: Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. {source="EFO:0005741"}
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "clinical infection" NARROW [NCIT:C26726]
synonym: "communicable disease" EXACT [doi:10.1007/978-1-4020-5614-7_3557, https://www.merriam-webster.com/medical/communicable%20disease]
synonym: "disease by infectious agent" RELATED [DOID:0050117]
synonym: "ID" RELATED EXCLUDE [NCIT:C26726]
synonym: "infection" EXACT [NCIT:C26726]
synonym: "infectious" EXACT [NCIT:C26726]
synonym: "infectious disease" EXACT [DOID:0050117, NCIT:C26726]
synonym: "infectious diseases and manifestations" EXACT [NCIT:C26726]
synonym: "infectious disorder" EXACT [NCIT:C26726]
synonym: "transmissible disease" EXACT [doi:10.1007/978-1-4020-5614-7_3557]
xref: DOID:0050117 {source="EFO:0005741", source="MONDO:equivalentTo"}
xref: EFO:0005741 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A00-B99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:B99-B99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M00-M02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:P35-P39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:079.0 {source="DOID:0050117"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: IDO:0000436 {source="EFO:0005741"}
xref: MEDGEN:1057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003141 {source="MONDO:equivalentTo"}
xref: NCIT:C26726 {source="MONDO:equivalentTo"}
xref: SCTID:40733004 {source="EFO:0005741", source="MONDO:equivalentTo"}
xref: UMLS:C0009450 {source="MONDO:equivalentTo", source="MEDGEN:1057", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="https://orcid.org/0000-0001-5208-3432"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_infectious_agent NCBITaxon:1 ! root
disjoint_from: MONDO:0019751 ! autoinflammatory syndrome

[Term]
id: MONDO:0005551
name: eye allergy
def: "An allergic disease involving a pathogenic inflammatory response in the camera-type eye." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005751 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1843485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0852875 {source="MEDGEN:1843485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005271 {source="EFO:0005751", source="MONDO:Entailed", source="MONDO:Redundant"} ! allergic disease
is_a: MONDO:0005328 {source="EFO:0005751", source="MONDO:Entailed"} ! eye disorder
intersection_of: MONDO:0005271 ! allergic disease
intersection_of: disease_has_location UBERON:0000019 ! camera-type eye

[Term]
id: MONDO:0005552
name: ocular vascular disorder
def: "A disorder that is caused by pathologic changes in the ocular vasculature." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of vasculature of eye" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vasculature of eye" EXACT []
synonym: "disorder of vasculature of eye" EXACT [MONDO:patterns/location_top]
synonym: "ocular vascular disorder" EXACT [NCIT:C35664]
synonym: "vasculature of eye disease" EXACT [MONDO:patterns/location]
synonym: "vasculature of eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:0005753 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:182689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35664 {source="EFO:0005753", source="MONDO:equivalentTo"}
xref: UMLS:C0948522 {source="MEDGEN:182689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="EFO:0005753", source="MONDO:Entailed", source="NCIT:C35664"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002203 ! vasculature of eye

[Term]
id: MONDO:0005553
name: obsolete parathyroid disease
is_obsolete: true
replaced_by: MONDO:0001223

[Term]
id: MONDO:0005554
name: rheumatic disorder
def: "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis." [NCIT:C27204]
comment: This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue
subset: otar {source="MONDO:OTAR"}
synonym: "collagen disease" RELATED [NCIT:C27204]
synonym: "collagen vascular disease" RELATED [NCIT:C27204]
synonym: "connective tissue disease" RELATED [NCIT:C27204]
synonym: "disease, rheumatic" RELATED [MESH:D012216]
synonym: "diseases, rheumatic" RELATED [MESH:D012216]
synonym: "enthesopathies" RELATED [MESH:D012216]
synonym: "enthesopathy" RELATED [MESH:D012216]
synonym: "inflammatory rheumatism" RELATED [NCIT:C27204]
synonym: "musculoskeletal pain disorder" RELATED [NCIT:C27204]
synonym: "rheumatic disease" EXACT [MESH:D012216, NCIT:C27204]
synonym: "rheumatism" RELATED [MESH:D012216, NCIT:C27204]
synonym: "rheumatologic disorder" EXACT [NCIT:C27204]
xref: DOID:1575 {source="EFO:0005755", source="MONDO:equivalentTo"}
xref: EFO:0005755 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:729.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012216 {source="MONDO:equivalentTo"}
xref: NANDO:2100151 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100152 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27204 {source="MONDO:equivalentTo"}
xref: SCTID:396332003 {source="EFO:0005755", source="MONDO:equivalentTo"}
xref: UMLS:C0009326 {source="MEDGEN:3157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Rheumatism {source="EFO:0005755"}
is_a: MONDO:0003900 {source="DOID:1575", source="MESH:D012216"} ! connective tissue disorder
relationship: excluded_subClassOf MONDO:0000589 {source="DOID:1575", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disorder of musculoskeletal system
relationship: excluded_subClassOf MONDO:0002081 {source="MESH:D012216", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disorder
relationship: excluded_subClassOf MONDO:0005046 {source="MONDO:Redundant", source="NCIT:C27204", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder

[Term]
id: MONDO:0005555
name: cycloplegia
def: "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." [EFO:0005758]
subset: otar {source="MONDO:OTAR"}
synonym: "accommodative paresis" RELATED []
synonym: "ciliary muscle paresis" EXACT [DOID:10033]
synonym: "cycloplegia" EXACT []
synonym: "cycloplegic paralysis of accommodation" EXACT [DOID:10033]
synonym: "loss of accommodation" RELATED []
synonym: "paralysis of accommodation" RELATED []
synonym: "paresis of accommodation" EXACT [DOID:10033, ICD9CM:367.51]
synonym: "visual accommodation paralysis" RELATED []
xref: DOID:10033 {source="MONDO:equivalentTo", source="EFO:0005758"}
xref: EFO:0005758 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H52.52 {source="DOID:10033"}
xref: ICD9:367.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005758", source="DOID:10033"}
xref: MEDGEN:536368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:232141000 {source="EFO:0005758", source="DOID:10033"}
xref: SCTID:255335004 {source="EFO:0005758", source="DOID:10033"}
xref: SCTID:68158006 {source="MONDO:equivalentTo", source="EFO:0005758", source="DOID:10033"}
xref: UMLS:C0235238 {source="MEDGEN:536368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Cycloplegia {source="EFO:0005758"}
is_a: MONDO:0000926 {source="DOID:10033"} ! eye accommodation disease

[Term]
id: MONDO:0005556
name: lupus nephritis
def: "Glomerulonephritis in the context of systemic lupus erythematosus." [NCIT:C34789]
subset: gard_rare {source="GARD:10747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Glomerulonephritides, lupus" RELATED [MESH:D008181]
synonym: "glomerulonephritis, lupus" RELATED [MESH:D008181]
synonym: "lupus Glomerulonephritides" RELATED [MESH:D008181]
synonym: "lupus glomerulonephritis" EXACT [MESH:D008181, NCIT:C34789]
synonym: "lupus Nephritides" RELATED [MESH:D008181]
synonym: "lupus nephritis" EXACT [NCIT:C34789]
synonym: "Nephritides, lupus" RELATED [MESH:D008181]
synonym: "nephritis, lupus" RELATED [MESH:D008181]
synonym: "SLE nephritis" EXACT [NCIT:C34789]
xref: DOID:0080162 {source="MONDO:equivalentTo"}
xref: EFO:0005761 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10747 {source="MONDO:GARD"}
xref: MEDGEN:6147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008181 {source="DOID:0080162", source="EFO:0005761", source="MONDO:equivalentTo"}
xref: NANDO:2200128 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34789 {source="EFO:0005761", source="MONDO:equivalentTo"}
xref: SCTID:68815009 {source="MONDO:equivalentTo"}
xref: UMLS:C0024143 {source="MEDGEN:6147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="DOID:0080162", source="MESH:D008181", source="MONDO:Entailed", source="NCIT:C34789"} ! glomerulonephritis
intersection_of: MONDO:0002462 ! glomerulonephritis
intersection_of: disease_arises_from_feature MONDO:0007915 ! systemic lupus erythematosus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis" xsd:anyURI {source="GARD:0010747"}

[Term]
id: MONDO:0005557
name: calcium metabolic disease
def: "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." [MESH:D002128]
comment: Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. {source="EFO:0005769"}
subset: otar {source="MONDO:OTAR"}
synonym: "calcium metabolism disease" RELATED [DOID:10575]
synonym: "calcium metabolism disorder" RELATED []
synonym: "disorder of calcium metabolism" EXACT []
xref: DOID:10575 {source="MONDO:equivalentTo", source="EFO:0005769"}
xref: EFO:0005769 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E83.5 {source="DOID:10575"}
xref: ICD10CM:E83.50 {source="DOID:10575"}
xref: ICD9:275.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005769", source="DOID:10575"}
xref: ICD9:275.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005769", source="DOID:10575"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002128 {source="MONDO:equivalentTo", source="EFO:0005769", source="DOID:10575"}
xref: SCTID:190863003 {source="EFO:0005769", source="DOID:10575"}
xref: SCTID:190874007 {source="EFO:0005769", source="DOID:10575"}
xref: SCTID:267442002 {source="EFO:0005769", source="DOID:10575"}
xref: SCTID:71638002 {source="MONDO:equivalentTo", source="EFO:0005769", source="DOID:10575"}
xref: UMLS:C0006705 {source="MEDGEN:714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 {source="DOID:10575"} ! mineral metabolism disease
is_a: MONDO:0005066 {source="DOID:10575/inferred", source="EFO:0005769", source="MESH:D002128", source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_disrupts GO:0055074 ! calcium ion homeostasis
relationship: disease_disrupts GO:0055074 {source="EFO:0005769-modified"} ! calcium ion homeostasis

[Term]
id: MONDO:0005558
name: ovarian disorder
def: "A disease involving the ovary." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of ovary" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ovary" EXACT []
synonym: "disorder of ovary" EXACT [MONDO:patterns/location_top]
synonym: "ovarian disease" EXACT [NCIT:C26841]
synonym: "ovarian disorder" EXACT [NCIT:C26841]
synonym: "ovary disease" EXACT [MONDO:patterns/location]
synonym: "ovary disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1100 {source="MONDO:equivalentTo", source="EFO:0005771"}
xref: EFO:0005771 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:892314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010049 {source="DOID:1100", source="MONDO:equivalentTo"}
xref: NCIT:C26841 {source="DOID:1100", source="MONDO:equivalentTo", source="EFO:0005771"}
xref: SCTID:5552004 {source="DOID:1100", source="MONDO:equivalentTo"}
xref: UMLS:C4021818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:892314"}
is_a: MONDO:0002259 {source="DOID:1100", source="MESH:D010049", source="MONDO:Redundant"} ! gonadal disorder
is_a: MONDO:0002263 {source="DOID:1100", source="MESH:D010049/inferred", source="MONDO:Redundant", source="NCIT:C26841"} ! female reproductive system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0005559
name: neurodegenerative disease
def: "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." [NCIT:C4802]
comment: Editor notes: DO treats this as two diseases
subset: merged_class
subset: otar {source="MONDO:OTAR"}
synonym: "brain degeneration" EXACT [DOID:1443]
synonym: "central nervous system degenerative disorder" EXACT [MONDO:patterns/location, NCIT:C4802]
synonym: "central nervous system neurodegenerative disorder" EXACT [NCIT:C4802]
synonym: "cerebral degeneration disease" NARROW [MONDO:0001963]
synonym: "degenerative disease" BROAD [DOID:1289]
synonym: "degenerative disorder of central nervous system" EXACT [MONDO:design_pattern]
synonym: "neurodegenerative disease" EXACT [DOID:1289, NCIT:C4802]
xref: DOID:1289 {source="EFO:0005772", source="MONDO:equivalentTo"}
xref: EFO:0005772 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G30-G32 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G31.9 {source="DOID:1289"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:17999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019636 {source="EFO:0005772", source="DOID:1289", source="MONDO:equivalentTo"}
xref: NCIT:C27090 {source="DOID:1289"}
xref: NCIT:C4802 {source="EFO:0005772", source="MONDO:equivalentTo"}
xref: SCTID:362975008 {source="EFO:0005772", source="DOID:1289"}
xref: SCTID:80690008 {source="MONDO:equivalentTo"}
xref: UMLS:C0027746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:17999"}
is_a: MONDO:0002602 {source="https://github.com/monarch-initiative/mondo/issues/528", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder
relationship: disease_has_major_feature HP:0007313 ! Cerebral degeneration

[Term]
id: MONDO:0005560
name: brain disorder
def: "A disease affecting the brain or part of the brain." [EFO:0005774]
comment: Editor note: NCIT has different classes for brain disease and encephalopathy
subset: otar {source="MONDO:OTAR"}
synonym: "brain disease" EXACT [MONDO:patterns/location]
synonym: "brain disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of brain" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of brain" EXACT []
synonym: "disorder of brain" EXACT [MONDO:patterns/location_top]
synonym: "encephalopathy" NARROW [DOID:936, NCIT:C26920]
xref: DOID:936 {source="EFO:0005774", source="MONDO:equivalentTo"}
xref: EFO:0005774 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G93.40 {source="DOID:936"}
xref: ICD10CM:G93.9 {source="DOID:936"}
xref: ICD9:348.3 {source="DOID:936", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:348.30 {source="DOID:936", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:348.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:348.9 {source="DOID:936", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001927 {source="DOID:936", source="MONDO:equivalentTo"}
xref: NCIT:C26920 {source="DOID:936"}
xref: NCIT:C96413 {source="DOID:936", source="MONDO:equivalentTo"}
xref: SCTID:155053002 {source="DOID:936"}
xref: SCTID:193051008 {source="DOID:936"}
xref: SCTID:193059005 {source="DOID:936"}
xref: SCTID:76011009 {source="DOID:936"}
xref: SCTID:81308009 {source="DOID:936", source="MONDO:equivalentTo"}
xref: UMLS:C0006111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14214"}
is_a: MONDO:0002602 {source="DOID:936", source="MESH:D001927", source="MONDO:Redundant", source="NCIT:C26920/inferred"} ! central nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0005561
name: aortic disorder
def: "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)" [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "aorta disease" EXACT [MONDO:patterns/location]
synonym: "aorta disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "aortic disorder" EXACT [DOID:520]
synonym: "disease of aorta" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of aorta" EXACT []
synonym: "disorder of aorta" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the aorta" EXACT [DOID:520]
xref: DOID:520 {source="EFO:0005775", source="MONDO:equivalentTo"}
xref: EFO:0005775 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:447.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001018 {source="MONDO:equivalentTo", source="DOID:520"}
xref: NCIT:C101253 {source="MONDO:equivalentTo", source="DOID:520"}
xref: SCTID:47040006 {source="MONDO:equivalentTo", source="DOID:520"}
xref: UMLS:C0003493 {source="MEDGEN:1618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="DOID:520", source="NCIT:C101253"} ! arterial disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000947 ! aorta

[Term]
id: MONDO:0005562
name: obsolete age-related hearing impairment
subset: otar {source="MONDO:OTAR"}
xref: EFO:0005782 {source="MONDO:obsoleteEquivalent", source="MONDO:EFO"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7390" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0043765

[Term]
id: MONDO:0005563
name: nut midline carcinoma
def: "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." [NCIT:C45716]
subset: gard_rare {source="GARD:21852", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443167"}
subset: orphanet_rare {source="Orphanet:443167"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma with t(15;19)(q13;p13.1) translocation" EXACT [NCIT:C45716]
synonym: "Midline carcinoma of children and Young adults with NUT rearrangement" EXACT [NCIT:C45716]
synonym: "NMC" EXACT ABBREVIATION [Orphanet:443167]
synonym: "nuclear protein in testis midline carcinoma" EXACT [DOID:0060463]
synonym: "NUT carcinoma" EXACT [NCIT:C45716]
synonym: "NUT Midline carcinoma" EXACT [NCIT:C45716]
synonym: "NUT midline carcinoma of the head and neck" RELATED [ONCOTREE:NMCHN]
xref: DOID:0060463 {source="MONDO:equivalentTo"}
xref: EFO:0005783 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21852 {source="MONDO:GARD"}
xref: ICD10CM:C80.9 {source="Orphanet:443167", source="Orphanet:443167/ntbt"}
xref: MEDGEN:312999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45716 {source="EFO:0005783", source="DOID:0060463", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:NMCHN {source="MONDO:equivalentTo"}
xref: Orphanet:443167 {source="MONDO:equivalentTo"}
xref: UMLS:C1707291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:312999"}
xref: Wikipedia:NUT_midline_carcinoma {source="EFO:0005783"}
is_a: MONDO:0004993 {source="DOID:0060463", source="EFO:0005783", source="MONDO:Redundant", source="NCIT:C45716/inferred"} ! carcinoma
is_a: MONDO:0005070 {source="Orphanet:443167"} ! neoplasm
is_a: MONDO:0005617 {source="NCIT:C45716"} ! undifferentiated carcinoma
relationship: disease_has_location CL:0000066 {source="EFO:0000784"} ! epithelial cell
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020031"} ! rare

[Term]
id: MONDO:0005564
name: embryonal neoplasm
def: "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" [NCIT:C3264]
subset: otar {source="MONDO:OTAR"}
synonym: "embryo neoplasm" EXACT [DOID:688]
synonym: "embryonal cancer" RELATED [DOID:688]
synonym: "embryonal neoplasm" EXACT [NCIT:C3264]
synonym: "embryonal tumor" EXACT [NCIT:C3264]
synonym: "embryonal tumour" EXACT OMO:0003005 []
synonym: "EMBT" RELATED ABBREVIATION [ONCOTREE:EMBT]
xref: DOID:688 {source="MONDO:equivalentTo"}
xref: EFO:0005784 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:45034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009373 {source="DOID:688", source="MONDO:relatedTo"}
xref: NCIT:C3264 {source="EFO:0005784", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:EMBT {source="MONDO:equivalentTo"}
xref: UMLS:C0027654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45034"}
is_a: MONDO:0005070 {source="DOID:688/inferred", source="EFO:0005784", source="NCIT:C3264/inferred"} ! neoplasm

[Term]
id: MONDO:0005565
name: blastoma
def: "A malignant neoplasm composed of undifferentiated cells." [NCIT:C8997]
comment: We follow NCIT and treat embryoma and colorectal cancer as equivalent.
subset: otar {source="MONDO:OTAR"}
synonym: "blastoma" EXACT [DOID:0070003, NCIT:C8997]
synonym: "embryoma" EXACT [DOID:4766, NCIT:C8997]
xref: DOID:0070003 {source="EFO:0005785", source="MONDO:equivalentTo"}
xref: DOID:4766 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:0005785 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8981/3 {source="NCIT:C8997"}
xref: MEDGEN:181704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8997 {source="EFO:0005785", source="MONDO:equivalentTo", source="DOID:4766"}
xref: SCTID:86049000 {source="DOID:4766"}
xref: UMLS:C0936282 {source="MONDO:equivalentTo", source="MEDGEN:181704", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="DOID:0070003", source="DOID:0070003/inferred"} ! cancer
is_a: MONDO:0005564 {source="DOID:4766", source="NCIT:C8997"} ! embryonal neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4206" xsd:anyURI

[Term]
id: MONDO:0005566
name: neonatal abstinence syndrome
def: "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "drug withdrawal syndrome in newborn" EXACT [DOID:9828]
synonym: "NAS" EXACT ABBREVIATION [NCIT:C87101]
synonym: "neonatal narcotic withdrawal syndrome" EXACT [NCIT:C87101]
synonym: "neonatal withdrawal" RELATED [Wikipedia:Neonatal_withdrawal]
xref: DOID:9828 {source="EFO:0005799", source="MONDO:equivalentTo"}
xref: EFO:0005799 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:P96.1 {source="DOID:9828"}
xref: ICD9:760.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:779.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9828"}
xref: MEDGEN:10207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009357 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828"}
xref: NCIT:C35808 {source="DOID:9828"}
xref: NCIT:C87101 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828"}
xref: SCTID:414819007 {source="EFO:0005799", source="MONDO:equivalentTo", source="DOID:9828"}
xref: SCTID:61628006 {source="DOID:9828"}
xref: UMLS:C0027609 {source="MEDGEN:10207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005567 {source="DOID:9828", source="EFO:0005799", source="NCIT:C87101"} ! substance withdrawal syndrome

[Term]
id: MONDO:0005567
name: substance withdrawal syndrome
def: "A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions." [https://orcid.org/0000-0002-4142-7153, NCIT:C35046]
subset: otar {source="MONDO:OTAR"}
synonym: "drug withdrawal" EXACT [NCIT:C35046]
synonym: "drug withdrawal syndrome" EXACT []
synonym: "substance withdrawal" EXACT []
synonym: "substance withdrawal disorder" EXACT [MONDO:0000566]
synonym: "substance withdrawal syndrome" EXACT [NCIT:C35046]
synonym: "withdrawal disorder" RELATED [DOID:0060001]
synonym: "withdrawal syndrome" EXACT [NCIT:C35046]
xref: DOID:0060001 {source="MONDO:equivalentTo"}
xref: EFO:0005800 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:292.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:20990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013375 {source="MONDO:equivalentTo", source="EFO:0005800"}
xref: NCIT:C35046 {source="MONDO:equivalentTo", source="EFO:0005800"}
xref: SCTID:363101005 {source="MONDO:equivalentTo"}
xref: UMLS:C0038587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20990"}
is_a: MONDO:0002254 {source="NCIT:C35046"} ! syndromic disease
is_a: MONDO:0002494 {source="DOID:0060001", source="MESH:D013375"} ! substance-related disorder
relationship: excluded_subClassOf MONDO:0005084 {source="EFO:0005800", source="https://orcid.org/0000-0001-5208-3432"} ! mental disorder
relationship: realized_in NBO:0000433 ! withdrawal reflex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5544" xsd:anyURI

[Term]
id: MONDO:0005568
name: cholesterol embolism
def: "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset." [MESH:D017700]
subset: otar {source="MONDO:OTAR"}
synonym: "atheroembolism" EXACT [DOID:1461]
synonym: "cholesterol crystal embolism" EXACT [DOID:1461]
synonym: "purple toe syndrome" EXACT [DOID:1461]
synonym: "trash foot" EXACT [DOID:1461]
synonym: "warfarin blue toe syndrome" EXACT [DOID:1461]
xref: DOID:1461 {source="EFO:0005801", source="MONDO:equivalentTo"}
xref: EFO:0005801 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I75 {source="DOID:1461"}
xref: ICD9:445 {source="DOID:1461", source="EFO:0005801"}
xref: ICD9:459.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017700 {source="DOID:1461", source="MONDO:equivalentTo"}
xref: SCTID:10690002 {source="DOID:1461"}
xref: SCTID:307406004 {source="EFO:0005801", source="MONDO:equivalentTo"}
xref: UMLS:C0149649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57437"}
is_a: MONDO:0005385 {source="DOID:1461", source="MESH:D017700/inferred"} ! vascular disorder
relationship: disease_has_location UBERON:0001981 {source="EFO:0000784"} ! blood vessel

[Term]
id: MONDO:0005569
name: obsolete cartilage disease
def: "OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." [EFO:0005802]
comment: Reason: grouping class.
synonym: "cartilage disorder" EXACT [DOID:1222]
synonym: "cartilage tissue disease" EXACT [MONDO:patterns/location]
synonym: "cartilage tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "chondropathy" EXACT [DOID:1222]
synonym: "disease of cartilage tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cartilage tissue" EXACT []
synonym: "disorder of cartilage tissue" EXACT [MONDO:patterns/location_top]
xref: DOID:1222 {source="MONDO:obsoleteEquivalent", source="EFO:0005802"}
xref: ICD10CM:M91-M94 {source="DOID:1222"}
xref: ICD10CM:M94.9 {source="DOID:1222"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D002357 {source="MONDO:obsoleteEquivalent", source="DOID:1222", source="EFO:0005802"}
xref: SCTID:203526003 {source="DOID:1222"}
xref: SCTID:203908009 {source="DOID:1222"}
xref: SCTID:203914002 {source="DOID:1222"}
xref: SCTID:268062001 {source="DOID:1222"}
xref: SCTID:268126004 {source="DOID:1222"}
xref: SCTID:308148004 {source="DOID:1222"}
xref: SCTID:367355001 {source="DOID:1222"}
xref: SCTID:50927007 {source="MONDO:obsoleteEquivalent", source="DOID:1222", source="EFO:0005802"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3576" xsd:anyURI
is_obsolete: true
consider: MONDO:0003900

[Term]
id: MONDO:0005570
name: hematologic disorder
def: "A disease involving the hematopoietic system." [https://orcid.org/0000-0002-6601-2165]
comment: placeholder for lymphoid disease {source="EFO:0005803"}
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97992"}
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "blood disease" EXACT [DOID:74]
synonym: "blood disorder" EXACT [DOID:74, NCIT:C26323]
synonym: "blood dyscrasia" EXACT [DOID:74]
synonym: "blood dyscrasia NOS" RELATED EXCLUDE [DOID:74]
synonym: "disease of haematopoietic system" EXACT OMO:0003005 []
synonym: "disease of hematopoietic system" EXACT [DOID:74, MONDO:patterns/location_top]
synonym: "disease of the blood and blood-forming organs" EXACT [DOID:74, ICD9CM:280-289.99]
synonym: "disease or disorder of haematopoietic system" EXACT OMO:0003005 []
synonym: "disease or disorder of hematopoietic system" EXACT []
synonym: "disorder of haematopoietic system" EXACT OMO:0003005 []
synonym: "disorder of hematopoietic system" EXACT [MONDO:patterns/location_top]
synonym: "haematological disease" EXACT OMO:0003005 []
synonym: "haematological disorder" EXACT OMO:0003005 []
synonym: "haematological disorders and malignancies" RELATED OMO:0003005 []
synonym: "haematological system disease" EXACT OMO:0003005 []
synonym: "haematopoietic disease" EXACT OMO:0003005 []
synonym: "haematopoietic system disease" EXACT OMO:0003005 []
synonym: "haematopoietic system disease or disorder" EXACT OMO:0003005 []
synonym: "hematologic and lymphocytic disorder" EXACT [NCIT:C26323]
synonym: "hematologic disorder" EXACT [NCIT:C26323]
synonym: "hematological disease" EXACT [DOID:74, MTH:NOCODE]
synonym: "hematological disorder" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C26323]
synonym: "hematological disorders and malignancies" RELATED [GTR:AN1320635]
synonym: "hematological system disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "hematopoietic disease" EXACT [DOID:74]
synonym: "hematopoietic system disease" EXACT [MONDO:patterns/location]
synonym: "hematopoietic system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "rare hematologic disease" EXACT [MONDO:0020006]
xref: DOID:74 {source="MONDO:equivalentTo", source="EFO:0005803"}
xref: EFO:0005803 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GTR:AN1320635
xref: ICD10CM:D50-D89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D70-D77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D75.9 {source="DOID:74"}
xref: ICD10CM:P50-P61 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:280-289.99 {source="DOID:74"}
xref: ICD9:289.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:289.9 {source="DOID:74", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006402 {source="DOID:74", source="MONDO:equivalentTo", source="EFO:0005803"}
xref: NANDO:1100006 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100175 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26323 {source="DOID:74", source="MONDO:equivalentTo"}
xref: Orphanet:97992 {source="MONDO:equivalentTo"}
xref: SCTID:154842002 {source="DOID:74"}
xref: SCTID:191124002 {source="DOID:74"}
xref: SCTID:191402006 {source="DOID:74"}
xref: SCTID:191446003 {source="DOID:74"}
xref: SCTID:267552000 {source="DOID:74"}
xref: SCTID:267573000 {source="DOID:74"}
xref: SCTID:34093004 {source="DOID:74"}
xref: SCTID:414022008 {source="MONDO:equivalentTo"}
xref: UMLS:C0018939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5483"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0002390 ! hematopoietic system
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI

[Term]
id: MONDO:0005571
name: polycythemia
def: "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." [NCIT:C26863]
subset: disease_grouping
subset: gard_rare {source="GARD:19466", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98427"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythrocythemia" EXACT [DOID:8432]
synonym: "polycythemia" EXACT [NCIT:C26863]
synonym: "polycythemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:8432 {source="MONDO:equivalentTo", source="EFO:0005804"}
xref: EFO:0005804 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19466 {source="MONDO:GARD"}
xref: HP:0001901 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D75.1 {source="DOID:8432"}
xref: MedDRA:10036051 {source="Orphanet:98427", source="Orphanet:98427/e"}
xref: MEDGEN:18552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011086 {source="MONDO:equivalentTo", source="Orphanet:98427", source="EFO:0005804", source="Orphanet:98427/e", source="DOID:8432"}
xref: NCIT:C26863 {source="MONDO:equivalentTo", source="EFO:0005804", source="MONDO:exact-label-match", source="DOID:8432"}
xref: Orphanet:98427 {source="MONDO:equivalentTo"}
xref: SCTID:109992005 {source="DOID:8432"}
xref: SCTID:127062003 {source="DOID:8432"}
xref: SCTID:165401000 {source="DOID:8432"}
xref: SCTID:44865000 {source="DOID:8432"}
xref: UMLS:C0032461 {source="MEDGEN:18552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003225 {source="DOID:8432"} ! bone marrow disorder
is_a: MONDO:0005570 {source="DOID:8432/inferred", source="EFO:0005804", source="MESH:D011086", source="MONDO:Redundant", source="NCIT:C26863", source="Orphanet:98427"} ! hematologic disorder
property_value: IAO:0000589 "polycythemia (disease)" xsd:string

[Term]
id: MONDO:0005572
name: polycythemia due to hypoxia
def: "Polycythemia resulting from hypoxia." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:2835 {source="MONDO:equivalentTo", source="EFO:0005805"}
xref: MEDGEN:163546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27312 {source="MONDO:equivalentTo", source="DOID:2835", source="EFO:0005805"}
xref: UMLS:C0856818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163546"}
is_a: MONDO:0002438 {source="DOID:2835", source="MONDO:Redundant"} ! acquired polycythemia
is_a: MONDO:0020115 {source="MONDO:Redundant", source="NCIT:C27312"} ! secondary polycythemia

[Term]
id: MONDO:0005573
name: obsolete type II hypersensitivity reaction disease
is_obsolete: true
replaced_by: MONDO:0007179

[Term]
id: MONDO:0005574
name: tauopathy
def: "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration." [MESH:D024801]
subset: otar {source="MONDO:OTAR"}
xref: DOID:680 {source="MONDO:equivalentTo", source="EFO:0005815"}
xref: EFO:0005815 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:181880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D024801 {source="MONDO:equivalentTo", source="DOID:680"}
xref: UMLS:C0949664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181880"}
is_a: MONDO:0005559 {source="DOID:680", source="EFO:0005815", source="MESH:D024801"} ! neurodegenerative disease
relationship: disease_has_feature HP:0002185 ! Neurofibrillary tangles

[Term]
id: MONDO:0005575
name: colorectal cancer
def: "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C4978]
comment: Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of colorectum" EXACT [MONDO:patterns/cancer]
synonym: "cancer of large bowel" EXACT [NCIT:C2955]
synonym: "cancer of large intestine" EXACT [NCIT:C2955]
synonym: "cancer of the large bowel" EXACT [NCIT:C2955]
synonym: "colon cancer" RELATED [OMIM:114500]
synonym: "colon cancer, advanced, somatic" EXACT [OMIM:114500, OMIM:genemap2]
synonym: "colon cancer, somatic" EXACT [OMIM:114500, OMIM:genemap2]
synonym: "colon cancer, susceptibility to, autosomal dominant, somatic mutation" RELATED [OMIM:114500, OMIM:genemap2]
synonym: "colorectal cancer" EXACT [MONDO:Lexical, OMIM:114500]
synonym: "colorectal cancer with chromosomal instability, somatic" EXACT [OMIM:114500, OMIM:genemap2]
synonym: "colorectal cancer, autosomal dominant, somatic mutation" EXACT [OMIM:114500, OMIM:genemap2]
synonym: "colorectal cancer, somatic" EXACT [OMIM:114500, OMIM:genemap2]
synonym: "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114500, OMIM:genemap2]
synonym: "colorectum cancer" EXACT [MONDO:patterns/location]
synonym: "CRC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114500]
synonym: "large intestine cancer" RELATED [DOID:5672]
synonym: "malignant colorectal neoplasm" EXACT [NCIT:C4978]
synonym: "malignant colorectal tumor" EXACT [NCIT:C4978]
synonym: "malignant colorectal tumour" EXACT OMO:0003005 []
synonym: "malignant colorectum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant large bowel neoplasm" EXACT [NCIT:C4978]
synonym: "malignant large bowel tumor" EXACT [NCIT:C4978]
synonym: "malignant large bowel tumour" EXACT OMO:0003005 []
synonym: "malignant large intestine neoplasm" EXACT [NCIT:C4978]
synonym: "malignant large intestine tumor" EXACT [NCIT:C4978]
synonym: "malignant large intestine tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of colorectum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of large bowel" EXACT [NCIT:C4978]
synonym: "malignant neoplasm of large intestine" EXACT [NCIT:C4978]
synonym: "malignant neoplasm of the large bowel" EXACT [NCIT:C4978]
synonym: "malignant neoplasm of the large intestine" EXACT [NCIT:C4978]
synonym: "malignant tumor of large bowel" EXACT [NCIT:C4978]
synonym: "malignant tumor of large intestine" EXACT [NCIT:C4978]
synonym: "malignant tumor of the large bowel" EXACT [NCIT:C4978]
synonym: "malignant tumor of the large intestine" EXACT [NCIT:C4978]
synonym: "malignant tumour of large bowel" EXACT OMO:0003005 []
synonym: "malignant tumour of large intestine" EXACT OMO:0003005 []
synonym: "malignant tumour of the large bowel" EXACT OMO:0003005 []
synonym: "malignant tumour of the large intestine" EXACT OMO:0003005 []
xref: DOID:5672 {source="MONDO:equivalentTo"}
xref: DOID:9256 {source="EFO:0005842", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: ICD10CM:C18.9 {source="DOID:5672"}
xref: MEDGEN:83428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015179 {source="DOID:9256", source="DOID:5672"}
xref: NCIT:C2955 {source="DOID:5672"}
xref: NCIT:C4978 {source="EFO:0005842", source="MONDO:equivalentTo", source="DOID:5672"}
xref: NCIT:C5105 {source="DOID:5672"}
xref: OMIM:114500 {source="MONDO:equivalentTo", source="DOID:9256"}
xref: Orphanet:466667 {source="MONDO:equivalentObsolete"}
xref: SCTID:363510005 {source="MONDO:equivalentTo", source="DOID:5672"}
xref: SCTID:408645001 {source="DOID:5672"}
xref: SCTID:93854002 {source="DOID:5672"}
xref: UMLS:C0346629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83428"}
is_a: MONDO:0005335 {source="MONDO:Redundant", source="NCIT:C4978"} ! colorectal neoplasm
is_a: MONDO:0005814 {source="DOID:5672", source="DOID:9256/inferred", source="MONDO:Redundant", source="NCIT:C4978"} ! intestinal cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0012652 ! colorectum
relationship: disease_has_location UBERON:0000059 {source="EFO:0000784"} ! large intestine
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0005576
name: cryoglobulinemia
def: "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." [https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia]
subset: otar {source="MONDO:OTAR"}
synonym: "cryoglobulinemia" EXACT [DOID:2917, MTH:NOCODE]
synonym: "Cryoimmunoglobulinaemia" EXACT [DOID:2917]
xref: DOID:2917 {source="MONDO:equivalentTo", source="EFO:0005846"}
xref: EFO:0005846 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D89.1 {source="DOID:2917", source="MONDO:equivalentTo"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003449 {source="DOID:2917", source="MONDO:equivalentTo", source="EFO:0005846"}
xref: NCIT:C26736 {source="DOID:2917", source="MONDO:equivalentTo", source="EFO:0005846"}
xref: SCTID:30911005 {source="DOID:2917", source="MONDO:equivalentTo", source="EFO:0005846"}
xref: UMLS:C0010403 {source="MEDGEN:3673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002459 {source="DOID:2917"} ! type IV hypersensitivity disease
is_a: MONDO:0005046 {source="DOID:2917/inferred", source="EFO:0005846/inferred", source="MESH:D003449/inferred", source="MONDO:Redundant", source="NCIT:C26736"} ! immune system disorder
is_a: MONDO:0007179 {source="EFO:0005846", source="MONDO:indirect"} ! autoimmune disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia" xsd:anyURI {source="GARD:0006217"}

[Term]
id: MONDO:0005577
name: obsolete narcolepsy without cataplexy
is_obsolete: true
replaced_by: MONDO:0019371

[Term]
id: MONDO:0005578
name: arthritic joint disease
def: "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain." [NCIT:C2883]
comment: Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory.
subset: otar {source="MONDO:OTAR"}
synonym: "arthritis" EXACT [DOID:848, NCIT:C2883]
synonym: "inflammation of skeletal joint" EXACT []
synonym: "inflammatory disorder of joint" NARROW [DOID:848]
synonym: "skeletal joint inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:848 {source="EFO:0005856", source="MONDO:equivalentTo"}
xref: EFO:0005856 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M05-M14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M19.90 {source="DOID:848"}
xref: MEDGEN:2043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001168 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo"}
xref: NCIT:C2883 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:202059001 {source="DOID:848"}
xref: SCTID:363178003 {source="DOID:848"}
xref: SCTID:372091005 {source="DOID:848"}
xref: SCTID:3723001 {source="DOID:848", source="EFO:0005856", source="MONDO:equivalentTo"}
xref: UMLS:C0003864 {source="MEDGEN:2043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Arthritis {source="EFO:0005856"}
is_a: MONDO:0002614 {source="DOID:848", source="MONDO:Redundant"} ! bone inflammation disease
is_a: MONDO:0006816 {source="MESH:D001168", source="MONDO:Redundant", source="NCIT:C2883"} ! arthropathy
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000982 ! skeletal joint
relationship: disease_has_feature HP:0002829 ! Arthralgia
relationship: excluded_subClassOf MONDO:0005554 {source="EFO:0005856", source="https://orcid.org/0000-0001-5208-3432"} ! rheumatic disorder

[Term]
id: MONDO:0005579
name: epilepsy, idiopathic generalized
def: "A chronic condition characterized by recurrent generalized seizures." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "EIG" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "epilepsy, idiopathic generalized" EXACT [MONDO:Lexical, OMIM:600669]
synonym: "generalised epilepsy" EXACT OMO:0003005 []
synonym: "generalized epilepsy" EXACT [DOID:1827, NCIT:C3021]
synonym: "idiopathic generalised epilepsy" EXACT OMO:0003005 []
synonym: "idiopathic generalized epilepsy" EXACT [DOID:1827, OMIM:600669]
xref: DOID:1827 {source="MONDO:equivalentTo", source="EFO:0005917"}
xref: EFO:0005917 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:75725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562694 {source="MONDO:equivalentTo"}
xref: MESH:D004829 {source="DOID:1827"}
xref: NCIT:C3021 {source="MONDO:equivalentTo", source="DOID:1827"}
xref: OMIM:600669 {source="MONDO:equivalentTo", source="DOID:1827"}
xref: OMIMPS:600669 {source="MONDO:equivalentTo"}
xref: SCTID:155038005 {source="DOID:1827"}
xref: SCTID:155043003 {source="DOID:1827"}
xref: SCTID:192989008 {source="DOID:1827"}
xref: SCTID:192994008 {source="DOID:1827"}
xref: SCTID:19598007 {source="MONDO:equivalentTo", source="DOID:1827"}
xref: UMLS:C0270850 {source="MEDGEN:75725", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="DOID:1827", source="EFO:0005917", source="MESH:D004829", source="NCIT:C3021"} ! epilepsy
intersection_of: MONDO:0005027 ! epilepsy
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600669"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0005580
name: esophageal squamous cell carcinoma
def: "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third." [Orphanet:99977]
subset: gard_rare {source="GARD:18901", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99977"}
subset: orphanet_rare {source="Orphanet:99977"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ESCC" EXACT ABBREVIATION [NCIT:C4024, ONCOTREE:ESCC, Orphanet:99977]
synonym: "esophageal epidermoid carcinoma" EXACT [NCIT:C4024, Orphanet:99977]
synonym: "esophageal scc" EXACT [NCIT:C4024]
synonym: "esophageal squamous cell cancer" EXACT [NCIT:C4024]
synonym: "esophageal squamous cell carcinoma" EXACT [NCIT:C4024, Orphanet:99977]
synonym: "esophagus scc" EXACT [NCIT:C4024]
synonym: "esophagus squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4024]
synonym: "oesophagus scc" EXACT OMO:0003005 []
synonym: "oesophagus squamous cell carcinoma" EXACT OMO:0003005 []
synonym: "scc of esophagus" EXACT [DOID:3748, NCIT:C4024]
synonym: "scc of oesophagus" EXACT OMO:0003005 []
synonym: "scc of the esophagus" EXACT [NCIT:C4024]
synonym: "scc of the oesophagus" EXACT OMO:0003005 []
synonym: "squamous cell car. - esophagus" EXACT [NCIT:C4024]
synonym: "squamous cell car. - oesophagus" EXACT OMO:0003005 []
synonym: "squamous cell carcinoma of esophagus" EXACT [DOID:3748, NCIT:C4024]
synonym: "squamous cell carcinoma of oesophagus" EXACT OMO:0003005 []
synonym: "squamous cell carcinoma of the esophagus" EXACT [NCIT:C4024]
synonym: "squamous cell carcinoma of the oesophagus" EXACT OMO:0003005 []
xref: DOID:3748 {source="EFO:0005922", source="MONDO:equivalentTo"}
xref: EFO:0005922 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18901 {source="MONDO:GARD"}
xref: ICD10CM:C15.3 {source="Orphanet:99977/btnt", source="Orphanet:99977"}
xref: ICD10CM:C15.4 {source="Orphanet:99977/btnt", source="Orphanet:99977"}
xref: icd11.foundation:1417891145 {source="Orphanet:99977", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:124635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562729 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748"}
xref: MESH:D000077277 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C4024 {source="EFO:0005922", source="MONDO:equivalentTo", source="DOID:3748", source="MONDO:exact-label-match"}
xref: ONCOTREE:ESCC {source="MONDO:equivalentTo"}
xref: Orphanet:99977 {source="MONDO:equivalentTo"}
xref: SCTID:276804009 {source="MONDO:equivalentTo", source="DOID:3748"}
xref: SCTID:372138000 {source="EFO:0005922"}
xref: UMLS:C0279626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124635"}
is_a: MONDO:0005096 {source="DOID:3748", source="EFO:0005922", source="MESH:C562729", source="MONDO:Redundant", source="NCIT:C4024"} ! squamous cell carcinoma
is_a: MONDO:0019086 {source="DOID:3748", source="EFO:0005922", source="MONDO:Redundant", source="NCIT:C4024", source="Orphanet:99977"} ! carcinoma of esophagus
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus
relationship: disease_has_location UBERON:0001043 {source="EFO:0000784"} ! esophagus

[Term]
id: MONDO:0005581
name: AVL induced bursal lymphoma
def: "Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occurring in birds." [EFO:0005923]
is_a: MONDO:0005583 {source="EFO:0005923"} ! non-human animal disease
is_a: MONDO:0700102 ! lymphoma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:8782 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Aves

[Term]
id: MONDO:0005582
name: binge eating disorder
def: "Recurrent episodes of over-eating." [NCIT:C97162]
subset: otar {source="MONDO:OTAR"}
synonym: "binge eating" EXACT [NCIT:C97162]
synonym: "binge eating disorder" EXACT []
xref: EFO:0005924 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:154543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002032 {source="MONDO:equivalentTo"}
xref: NCIT:C97162 {source="MONDO:equivalentTo", source="EFO:0005924"}
xref: SCTID:439960005 {source="MONDO:equivalentTo"}
xref: UMLS:C0596170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154543"}
is_a: MONDO:0005451 {source="EFO:0005924", source="NCIT:C97162"} ! eating disorder

[Term]
id: MONDO:0005583
name: non-human animal disease
def: "A disease that occurs in animals." [EFO:0005932]
subset: otar {source="MONDO:OTAR"}
synonym: "animal disease" EXACT [MESH:D000820]
synonym: "diseases, animal" EXACT [MESH:D000820]
xref: EFO:0005932 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D000820 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="EFO:0005932"} ! disease
disjoint_from: MONDO:0700096 ! human disease
relationship: never_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: MONDO:0005584
name: congenital left-sided heart lesions
def: "Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth." [EFO:0005938]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0005938 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:868006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4022397 {source="MEDGEN:868006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019512 {source="EFO:0005938"} ! congenital heart malformation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0005585
name: chemotherapy-induced hypertension
def: "A form of hypertension that occurs as a direct result of chemotherapy treatment" [EFO:0005942]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005044 {source="EFO:0005942"} ! hypertensive disorder
intersection_of: MONDO:0005044 ! hypertensive disorder
intersection_of: realized_in_response_to MAXO:0000647 ! chemotherapy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005586
name: head and neck neoplasm
def: "A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." [NCIT:C3077]
subset: otar {source="MONDO:OTAR"}
synonym: "craniocervical region neoplasm" EXACT []
synonym: "craniocervical region neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "craniocervical region tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "craniocervical region tumour" EXACT OMO:0003005 []
synonym: "head and neck neoplasm" EXACT [NCIT:C3077]
synonym: "head and neck neoplasm (excluding central nervous system)" EXACT [NCIT:C3077]
synonym: "head and neck tumor" EXACT [NCIT:C3077]
synonym: "head and neck tumour" EXACT OMO:0003005 []
synonym: "neoplasm of craniocervical region" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of head and neck" EXACT [NCIT:C3077]
synonym: "neoplasm of the head and neck" EXACT [NCIT:C3077]
synonym: "tumor of craniocervical region" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of head and neck" EXACT [NCIT:C3077]
synonym: "tumor of the head and neck" EXACT [NCIT:C3077]
synonym: "tumour of craniocervical region" EXACT OMO:0003005 []
synonym: "tumour of head and neck" EXACT OMO:0003005 []
synonym: "tumour of the head and neck" EXACT OMO:0003005 []
xref: EFO:0005950 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12418 {source="ONCOTREE:HEADNECK"}
xref: NCIT:C3077 {source="EFO:0005950", source="MONDO:equivalentTo"}
xref: ONCOTREE:HEADNECK {source="MONDO:equivalentTo"}
xref: SCTID:255055008 {source="EFO:0005950", source="MONDO:equivalentTo"}
xref: UMLS:C0018671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6728"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3077/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0007811 ! craniocervical region

[Term]
id: MONDO:0005587
name: obsolete non-Hodgkins lymphoma
is_obsolete: true
replaced_by: MONDO:0018908

[Term]
id: MONDO:0005588
name: chemotherapy-induced oral mucositis
def: "Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment." [EFO:0006313]
xref: MEDGEN:853868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2887631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:853868"}
is_a: MONDO:0004842 {source="EFO:0006313", source="https://orcid.org/0000-0001-5208-3432"} ! stomatitis
intersection_of: MONDO:0004842 ! stomatitis
intersection_of: realized_in_response_to MAXO:0000647 ! chemotherapy
relationship: disease_has_inflammation_site UBERON:0003729 {source="EFO:0006313"} ! mouth mucosa
relationship: excluded_subClassOf MONDO:0000001 {source="EFO:0006313", source="https://orcid.org/0000-0001-5208-3432"} ! disease

[Term]
id: MONDO:0005589
name: thiopurine immunosuppressant-induced pancreatitis
def: "Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine." [EFO:0006315]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0006315 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0004982 {source="EFO:0006315"} ! pancreatitis
relationship: disease_has_inflammation_site UBERON:0001264 ! pancreas

[Term]
id: MONDO:0005590
name: breast ductal adenocarcinoma
def: "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist." [NCIT:C4017]
subset: otar {source="MONDO:OTAR"}
synonym: "breast ductal carcinoma" EXACT [MONDO:0002484]
synonym: "duct adenocarcinoma" BROAD [NCIT:C4017]
synonym: "duct carcinoma" BROAD [NCIT:C4017]
synonym: "duct carcinoma, NOS" RELATED EXCLUDE [DOID:3007]
synonym: "ductal adenocarcinoma" BROAD [NCIT:C4017]
synonym: "ductal breast adenocarcinoma" EXACT [MONDO:0005022]
synonym: "ductal breast carcinoma" EXACT [NCIT:C4017]
synonym: "ductal carcinoma" BROAD [NCIT:C4017]
synonym: "ductal carcinoma of breast" EXACT [NCIT:C4017]
synonym: "ductal carcinoma of the breast" EXACT [NCIT:C4017]
synonym: "mammary duct adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3007 {source="MONDO:equivalentTo"}
xref: EFO:0006318 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:315942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018270 {source="MONDO:equivalentTo"}
xref: MESH:D044584 {source="DOID:3007"}
xref: NCIT:C4017 {source="EFO:0000430", source="EFO:0006318", source="MONDO:equivalentTo"}
xref: SCTID:82711006 {source="DOID:3007"}
xref: UMLS:C1527349 {source="MEDGEN:315942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="EFO:0000430", source="EFO:0006318/inferred", source="MESH:D018270/inferred", source="MONDO:0005590/inferred", source="MONDO:Redundant", source="NCIT:C4017/inferred"} ! adenocarcinoma
is_a: MONDO:0004988 {source="MONDO:Redundant", source="NCIT:C4017"} ! breast adenocarcinoma
is_a: MONDO:0004989 {source="DOID:3007", source="MONDO:0005590/inferred", source="NCIT:C4017/inferred"} ! breast carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001765 ! mammary duct
relationship: disease_has_location UBERON:0001911 {source="EFO:0000784"} ! mammary gland

[Term]
id: MONDO:0005591
name: pit and fissure surface dental caries
xref: ICD9:521.06 {source="EFO:0006338"}
xref: MEDGEN:712983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1290627 {source="MEDGEN:712983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005276 {source="EFO:0006338"} ! dental caries

[Term]
id: MONDO:0005592
name: smooth surface dental caries
xref: ICD9:521.07 {source="EFO:0006339"}
xref: MEDGEN:1843464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1456145 {source="MEDGEN:1843464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005276 {source="EFO:0006339"} ! dental caries

[Term]
id: MONDO:0005593
name: chronic periodontitis
def: "A chronic inflammatory process that affects the tissues that surround and support the teeth." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "periodontitis, chronic" EXACT [MONDO:patterns/chronic]
xref: EFO:0006343 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K05.3 {source="MONDO:equivalentTo"}
xref: ICD9:523.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0006343"}
xref: ICD9:523.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D055113 {source="MONDO:equivalentTo", source="EFO:0006343"}
xref: NCIT:C35326 {source="MONDO:equivalentTo", source="EFO:0006343"}
xref: SCTID:5689008 {source="MONDO:equivalentTo", source="EFO:0006343"}
is_a: MONDO:0005076 {source="EFO:0006343", source="MESH:D055113", source="MONDO:Redundant", source="NCIT:C35326"} ! periodontitis
intersection_of: MONDO:0005076 ! periodontitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0005594
name: severe cutaneous adverse reaction
def: "A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE)." [PMID:29445753]
subset: otar {source="MONDO:OTAR"}
synonym: "SCAR" EXACT ABBREVIATION [PMID:29445753]
xref: EFO:0006346 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:20000020 {source="EFO:0006346"}
xref: MEDGEN:1843455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5554042 {source="MEDGEN:1843455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="EFO:0006346"} ! skin disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7258" xsd:anyURI

[Term]
id: MONDO:0005595
name: laryngeal squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." [NCIT:C4044]
subset: gard_rare {source="GARD:17908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494550"}
subset: orphanet_rare {source="Orphanet:494550"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of larynx" EXACT [NCIT:C4044]
synonym: "epidermoid carcinoma of the larynx" EXACT [DOID:2876, NCIT:C4044]
synonym: "laryngeal epidermoid carcinoma" EXACT [NCIT:C4044]
synonym: "laryngeal squamous cell carcinoma" EXACT [NCIT:C4044]
synonym: "laryngeal throat squamous cell cancer" EXACT [NCIT:C4044]
synonym: "larynx epidermoid carcinoma" EXACT [NCIT:C4044]
synonym: "larynx squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4044]
synonym: "LXSC" RELATED ABBREVIATION [ONCOTREE:LXSC]
synonym: "squamous cell carcinoma of larynx" EXACT [NCIT:C4044]
synonym: "squamous cell carcinoma of the larynx" EXACT [NCIT:C4044]
xref: DOID:2876 {source="MONDO:equivalentTo", source="EFO:0006352"}
xref: EFO:0006352 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17908 {source="MONDO:GARD"}
xref: MEDGEN:83630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4044 {source="MONDO:equivalentTo", source="DOID:2876", source="MONDO:exact-label-match", source="EFO:0006352"}
xref: ONCOTREE:LXSC {source="MONDO:equivalentTo"}
xref: Orphanet:494550 {source="MONDO:equivalentTo"}
xref: SCTID:405822008 {source="MONDO:equivalentTo", source="DOID:2876", source="EFO:0006352"}
xref: SCTID:707358000 {source="DOID:2876"}
xref: UMLS:C0280324 {source="MEDGEN:83630", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002358 {source="DOID:2876", source="MONDO:Redundant", source="NCIT:C4044"} ! laryngeal carcinoma
is_a: MONDO:0010150 {source="EFO:0006352", source="NCIT:C4044", source="ONCOTREE:LXSC"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001737 ! larynx
relationship: excluded_subClassOf MONDO:0020035 {source="Orphanet:494550", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare otorhinolaryngologic tumor

[Term]
id: MONDO:0005596
name: cystadenocarcinoma
def: "A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas." [NCIT:C2971]
subset: otar {source="MONDO:OTAR"}
synonym: "cystadenocarcinoma" EXACT [NCIT:C2971]
synonym: "cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3111]
synonym: "cystadenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3111]
synonym: "cystadenocarcinoma, malignant" EXACT [NCIT:C2971]
xref: DOID:3111 {source="MONDO:equivalentTo", source="EFO:0006387"}
xref: EFO:0006387 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8440/3 {source="NCIT:C2971"}
xref: MEDGEN:41385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003536 {source="DOID:3111", source="MONDO:equivalentTo", source="EFO:0006387"}
xref: NCIT:C2971 {source="DOID:3111", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006387"}
xref: SCTID:189681005 {source="DOID:3111"}
xref: SCTID:21008007 {source="DOID:3111", source="EFO:0006387"}
xref: UMLS:C0010631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41385"}
is_a: MONDO:0004970 {source="DOID:3111", source="EFO:0006387", source="MESH:D003536", source="NCIT:C2971"} ! adenocarcinoma
is_a: MONDO:0021077 {source="NCIT:C2971"} ! cystic neoplasm

[Term]
id: MONDO:0005597
name: cystic renal cell carcinoma
def: "Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis." [EFO:0006388]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0006388 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: PMID:3739121 {source="EFO:0006388"}
is_a: MONDO:0005086 {source="EFO:0006388"} ! renal cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005598
name: dopaminergic neuroblastoma
def: "A neuroblastoma associated with increased dopamine excretion." [EFO:0006391]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0006391 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: PMID:3385588 {source="EFO:0006391"}
is_a: MONDO:0005072 {source="EFO:0006391"} ! neuroblastoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0005599
name: malignant epithelioid mesothelioma
def: "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." [NCIT:C7985]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epithelial mesothelioma" EXACT [NCIT:C7985]
synonym: "epithelioid mesothelioma" EXACT [NCIT:C7985]
synonym: "epithelioid mesothelioma, malignant" EXACT [DOID:4489]
synonym: "epithelioid mesothelioma, malignant (morphologic abnormality)" EXACT [DOID:4489]
synonym: "malignant epithelial mesothelioma" EXACT [NCIT:C7985]
xref: DOID:4489 {source="MONDO:equivalentTo", source="EFO:0006452"}
xref: EFO:0006452 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9052/3 {source="NCIT:C7985"}
xref: MEDGEN:163578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7985 {source="MONDO:0021037", source="DOID:4489", source="MONDO:equivalentTo", source="EFO:0006452"}
xref: SCTID:65278006 {source="DOID:4489"}
xref: UMLS:C0862312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163578"}
is_a: MONDO:0006292 {source="DOID:4489", source="NCIT:C7985/inferred"} ! malignant mesothelioma

[Term]
id: MONDO:0005600
name: obsolete ovarian adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0002752

[Term]
id: MONDO:0005601
name: ovarian mucinous adenocarcinoma
def: "An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." [NCIT:C5243]
subset: gard_rare {source="GARD:21651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398961"}
subset: orphanet_rare {source="Orphanet:398961"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mucinous adenocarcinoma of ovary" EXACT [MONDO:0018366, NCIT:C5243]
synonym: "mucinous adenocarcinoma of the ovary" EXACT [NCIT:C5243]
synonym: "mucinous carcinoma of ovary" EXACT [DOID:3606, NCIT:C5243]
synonym: "mucinous carcinoma of the ovary" EXACT [NCIT:C5243]
synonym: "ovarian mucinous adenocarcinoma" EXACT [NCIT:C5243, Orphanet:398961]
synonym: "ovarian mucinous carcinoma" EXACT [NCIT:C5243]
synonym: "ovary mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3606 {source="MONDO:equivalentTo", source="EFO:0006462"}
xref: EFO:0006462 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21651 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:398961/ntbt", source="Orphanet:398961"}
xref: icd11.foundation:869438441 {source="Orphanet:398961", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:235418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5243 {source="MONDO:equivalentTo", source="EFO:0006462", source="DOID:3606"}
xref: Orphanet:398961 {source="MONDO:equivalentTo"}
xref: UMLS:C1335167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235418"}
is_a: MONDO:0002752 {source="DOID:3606", source="MONDO:Redundant", source="NCIT:C5243"} ! ovarian adenocarcinoma
is_a: MONDO:0004957 {source="EFO:0006462", source="MONDO:Redundant", source="NCIT:C5243"} ! mucinous adenocarcinoma
is_a: MONDO:0018364 {source="DOID:3606/inferred", source="MONDO:0005601/inferred", source="MONDO:Redundant", source="NCIT:C5243/inferred", source="Orphanet:398961"} ! malignant epithelial tumor of ovary
is_a: MONDO:0024282 {source="NCIT:C5243"} ! mucinous ovarian cancer
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0005602
name: ovarian teratoma
def: "A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." [NCIT:C8110]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "germ cell teratoma of ovary" EXACT [DOID:5567, NCIT:C8110]
synonym: "germ cell teratoma of the ovary" EXACT [NCIT:C8110]
synonym: "ovarian germ cell teratoma" EXACT [NCIT:C8110]
synonym: "ovarian teratoma" EXACT [NCIT:C8110]
synonym: "teratoma of ovary" EXACT [NCIT:C8110]
synonym: "teratoma of the ovary" EXACT [NCIT:C8110]
xref: DOID:5567 {source="MONDO:equivalentTo", source="EFO:0006463"}
xref: EFO:0006463 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8110 {source="DOID:5567", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006463"}
xref: SCTID:716077006 {source="MONDO:equivalentTo"}
xref: UMLS:C0280131 {source="MEDGEN:76072", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002601 {source="MONDO:Redundant", source="NCIT:C8110/inferred"} ! teratoma
is_a: MONDO:0006233 {source="MONDO:Redundant", source="NCIT:C8110"} ! gonadal teratoma
is_a: MONDO:0011366 {source="DOID:5567", source="NCIT:C8110"} ! ovarian germ cell tumor
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_arises_from_structure UBERON:0000992 ! ovary

[Term]
id: MONDO:0005603
name: obsolete pancreatic tubular adenocarcinoma
subset: otar {source="MONDO:OTAR"}
xref: EFO:0006471 {source="MONDO:obsoleteEquivalent", source="MONDO:EFO"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7215" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005184

[Term]
id: MONDO:0005604
name: obsolete plasma cell leukemia
is_obsolete: true
replaced_by: MONDO:0018689

[Term]
id: MONDO:0005605
name: transitional cell papilloma
def: "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." [NCIT:C4115]
subset: otar {source="MONDO:OTAR"}
synonym: "papilloma, transitional cell, benign" EXACT [NCIT:C4115]
synonym: "transitional cell papilloma" EXACT [DOID:2670, NCIT:C4115]
synonym: "transitional cell papilloma NOS (morphologic abnormality)" EXACT [DOID:2670]
synonym: "transitional cell papilloma, benign" EXACT [DOID:2670]
synonym: "transitional cell papilloma, benign (morphologic abnormality)" EXACT [DOID:2670]
synonym: "transitional papilloma" EXACT [NCIT:C4115]
xref: DOID:2670 {source="MONDO:equivalentTo", source="EFO:0006497"}
xref: EFO:0006497 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8120/0 {source="NCIT:C4115"}
xref: MEDGEN:137734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4115 {source="DOID:2670", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006497"}
xref: SCTID:189575005 {source="DOID:2670"}
xref: SCTID:44342003 {source="DOID:2670"}
xref: SCTID:45083001 {source="DOID:2670"}
xref: UMLS:C0334266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137734"}
is_a: MONDO:0002363 {source="DOID:2670", source="MONDO:Redundant", source="NCIT:C4115"} ! papilloma
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_arises_from_structure CL:1001428 ! bladder urothelial cell
relationship: disease_arises_from_structure UBERON:0004645 {source="NCIT:C4115"} ! urinary bladder urothelium

[Term]
id: MONDO:0005606
name: tubular adenocarcinoma
def: "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." [NCIT:C65192]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma, tubular cell, malignant" EXACT [NCIT:C65192]
synonym: "tubular adenocarcinoma" EXACT [NCIT:C65192]
synonym: "tubular adenocarcinoma (morphologic abnormality)" EXACT [DOID:4929]
synonym: "tubular carcinoma" EXACT [DOID:4929, NCIT:C3682]
xref: DOID:4929 {source="EFO:0006500", source="MONDO:equivalentTo"}
xref: EFO:0006500 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8211/3 {source="NCIT:C65192"}
xref: MEDGEN:61428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000230 {source="DOID:4929"}
xref: NCIT:C65192 {source="EFO:0006500", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4929"}
xref: SCTID:4631006 {source="EFO:0006500", source="DOID:4929"}
xref: UMLS:C0205645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61428"}
is_a: MONDO:0004970 {source="DOID:4929", source="EFO:0006500", source="NCIT:C65192"} ! adenocarcinoma

[Term]
id: MONDO:0005607
name: chronic bronchitis
def: "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." [NCIT:C26722]
subset: otar {source="MONDO:OTAR"}
synonym: "bronchitis, chronic" EXACT [MONDO:patterns/chronic]
xref: EFO:0006505 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:491 {source="EFO:0006505"}
xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:491.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D029481 {source="MONDO:equivalentTo"}
xref: NCIT:C26722 {source="EFO:0006505", source="MONDO:equivalentTo"}
xref: SCTID:63480004 {source="EFO:0006505", source="MONDO:equivalentTo"}
xref: UMLS:C0008677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3084"}
is_a: MONDO:0003781 {source="MONDO:Redundant", source="NCIT:C26722"} ! bronchitis
is_a: MONDO:0005002 {source="EFO:0006505", source="NCIT:C26722"} ! chronic obstructive pulmonary disease
intersection_of: MONDO:0003781 ! bronchitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0005608
name: varicella zoster infection
def: "A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." [NCIT:C96407]
subset: otar {source="MONDO:OTAR"}
synonym: "varicella zoster infection" EXACT [NCIT:C96407]
synonym: "Varicella-zoster Virus infection" EXACT [NCIT:C96407]
xref: EFO:0006509 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:052.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:668886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96407 {source="MONDO:equivalentTo", source="EFO:0006509"}
xref: SCTID:309465005 {source="MONDO:equivalentTo"}
xref: UMLS:C0586989 {source="MEDGEN:668886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0006509", source="MONDO:Redundant", source="NCIT:C96407"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10335 ! disease has primary infectious agent Human alphaherpesvirus 3

[Term]
id: MONDO:0005609
name: herpes zoster
def: "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." [NCIT:C71079]
subset: otar {source="MONDO:OTAR"}
synonym: "herpes zona" EXACT [DOID:8536]
synonym: "herpes Zoster" EXACT [NCIT:C71079]
synonym: "postherpetic neuralgia" RELATED []
synonym: "shingles" EXACT [DOID:8536, NCIT:C71079]
synonym: "Zoster" EXACT [NCIT:C71079]
xref: DOID:8536 {source="EFO:0006510", source="MONDO:equivalentTo"}
xref: EFO:0006510 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B02 {source="DOID:8536", source="MONDO:equivalentTo"}
xref: ICD10CM:B02.9 {source="DOID:8536"}
xref: ICD9:053 {source="EFO:0006510", source="DOID:8536"}
xref: MEDGEN:42437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006562 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo"}
xref: NCIT:C71079 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo"}
xref: SCTID:154326002 {source="DOID:8536"}
xref: SCTID:186514003 {source="DOID:8536"}
xref: SCTID:186533008 {source="DOID:8536"}
xref: SCTID:4740000 {source="EFO:0006510", source="DOID:8536", source="MONDO:equivalentTo"}
xref: UMLS:C0019360 {source="MEDGEN:42437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:8536", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0005608 {source="EFO:0006510", source="MONDO:Redundant", source="NCIT:C71079"} ! varicella zoster infection
is_a: MONDO:0021674 {source="MONDO:Redundant"} ! post-viral disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100333 NCBITaxon:10335 ! disease caused by reactivation of latent infectious agent Human alphaherpesvirus 3
relationship: disease_arises_from_feature MONDO:0005608 {source="EFO:0006510-isa"} ! varicella zoster infection
relationship: disease_has_feature HP:0003401 ! Paresthesia
relationship: disease_has_feature HP:0008066 ! Abnormal blistering of the skin
relationship: disease_has_infectious_agent NCBITaxon:10335 ! Human alphaherpesvirus 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0005610
name: Kashin-Beck disease
def: "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." [MESH:D057767]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0006511 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:716.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:716.06 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:716.08 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:412531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057767 {source="EFO:0006511", source="MONDO:equivalentTo"}
xref: SCTID:270505009 {source="MONDO:equivalentTo"}
xref: UMLS:C2745963 {source="MEDGEN:412531", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="EFO:0006511", source="MESH:D057767"} ! osteochondrodysplasia

[Term]
id: MONDO:0005611
name: bladder transitional cell carcinoma
def: "The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bladder transitional cell carcinoma" EXACT [DOID:4006, NCIT:C39851]
synonym: "bladder urothelial cancer" EXACT [NCIT:C39851]
synonym: "bladder urothelial carcinoma" EXACT [NCIT:C39851]
synonym: "BLCA" RELATED ABBREVIATION [ONCOTREE:BLCA]
synonym: "transitional cell carcinoma of bladder" EXACT [DOID:4006]
synonym: "transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C39851]
synonym: "urinary bladder transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C39851]
synonym: "urinary bladder urothelial carcinoma" EXACT [DOID:4006, NCIT:C39851]
synonym: "urothelial bladder carcinoma" EXACT [DOID:4006]
synonym: "urothelial carcinoma of the urinary bladder" EXACT [NCIT:C39851]
xref: DOID:4006 {source="EFO:0006544", source="MONDO:equivalentTo"}
xref: EFO:0006544 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39851 {source="EFO:0006544", source="DOID:4006", source="MONDO:equivalentTo"}
xref: ONCOTREE:BLCA {source="MONDO:equivalentTo"}
xref: SCTID:255109008 {source="DOID:4006", source="MONDO:equivalentTo"}
xref: SCTID:393562002 {source="DOID:4006"}
xref: UMLS:C0279680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76013"}
is_a: MONDO:0004986 {source="DOID:4006", source="EFO:0006544", source="MONDO:Redundant", source="NCIT:C39851"} ! urinary bladder carcinoma
is_a: MONDO:0006474 {source="DOID:4006", source="MONDO:0005611/inferred", source="MONDO:Entailed", source="NCIT:C39851/inferred"} ! transitional cell carcinoma
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0005612
name: obsolete ovarian leiomyosarcoma
is_obsolete: true
replaced_by: MONDO:0003355

[Term]
id: MONDO:0005613
name: mesonephric adenocarcinoma
def: "An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." [NCIT:C4072]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant mesonephroma" EXACT [NCIT:C4072]
xref: EFO:0006719 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9110/3 {source="NCIT:C4072"}
xref: MEDGEN:44373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4072 {source="MONDO:equivalentTo", source="EFO:0006719"}
xref: UMLS:C0025490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44373"}
is_a: MONDO:0004970 {source="EFO:0006719", source="NCIT:C4072"} ! adenocarcinoma

[Term]
id: MONDO:0005614
name: pancreatic adenosquamous carcinoma
def: "A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." [NCIT:C5721]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosquamous carcinoma of pancreas" EXACT [DOID:5637, NCIT:C5721]
synonym: "adenosquamous carcinoma of the pancreas" EXACT [DOID:5637, NCIT:C5721]
synonym: "adenosquamous pancreas carcinoma" EXACT [MONDO:0003560]
synonym: "PAASC" RELATED ABBREVIATION [ONCOTREE:PAASC]
synonym: "pancreas adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic adenoacanthoma" EXACT [NCIT:C5721]
synonym: "pancreatic adenosquamous cancer" EXACT [NCIT:C5721]
synonym: "pancreatic adenosquamous carcinoma" EXACT [NCIT:C5721]
synonym: "pancreatic mixed squamous and adenocarcinoma" EXACT [NCIT:C5721]
synonym: "pancreatic mucoepidermoid carcinoma" EXACT [NCIT:C5721]
xref: DOID:5637 {source="MONDO:equivalentTo"}
xref: EFO:0006732 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5721 {source="EFO:0006732", source="MONDO:equivalentTo", source="DOID:5637"}
xref: ONCOTREE:PAASC {source="MONDO:equivalentTo"}
xref: UMLS:C1335299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277489"}
is_a: MONDO:0005192 {source="DOID:5637/inferred", source="EFO:0006732", source="MONDO:Redundant", source="NCIT:C5721"} ! exocrine pancreatic carcinoma
is_a: MONDO:0006074 {source="DOID:5637", source="MONDO:Redundant", source="NCIT:C5721"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas
relationship: excluded_subClassOf MONDO:0005184 {source="DOID:5637", source="https://orcid.org/0000-0001-5208-3432"} ! pancreatic ductal adenocarcinoma

[Term]
id: MONDO:0005615
name: plasmacytoma
def: "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations." [Orphanet:86855]
comment: alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. {source="EFO:0006738"}
subset: gard_rare {source="GARD:13446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86855"}
subset: orphanet_rare {source="Orphanet:86855"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic plasmacytoma" RELATED [GARD:0007404]
synonym: "anaplastic skeletal plasmacytoma (type)" RELATED [GARD:0007404]
synonym: "anaplastic solitary extramedullary plasmacytoma of the cecum (type)" RELATED [GARD:0007404]
synonym: "extramedullary anaplastic plasmacytoma (type)" RELATED [GARD:0007404]
synonym: "myeloma - solitary" RELATED [DOID:3721]
synonym: "myeloma, solitary" RELATED [DOID:3721]
synonym: "plasmacytoma" EXACT [NCIT:C9349]
synonym: "solitary myeloma" RELATED [DOID:3721]
synonym: "solitary plasmacytoma" NARROW [DOID:3721, NCIT:C6932, Orphanet:86855]
xref: DOID:3721 {source="MONDO:equivalentTo", source="EFO:0006738"}
xref: EFO:0006738 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13446 {source="MONDO:GARD"}
xref: ICD10CM:C90.2 {source="Orphanet:86855", source="Orphanet:86855/btnt"}
xref: ICD10CM:C90.3 {source="DOID:3721", source="Orphanet:86855", source="Orphanet:86855/btnt"}
xref: ICD10CM:C90.30 {source="DOID:3721"}
xref: icd11.foundation:1811140613 {source="MONDO:equivalentTo", source="Orphanet:86855", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9731/3 {source="NCIT:C9349"}
xref: MedDRA:10035484 {source="Orphanet:86855", source="Orphanet:86855/e"}
xref: MEDGEN:18506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010954 {source="MONDO:equivalentTo", source="DOID:3721", source="Orphanet:86855", source="EFO:0006738", source="Orphanet:86855/e"}
xref: NCIT:C6932 {source="DOID:3721"}
xref: NCIT:C9349 {source="MONDO:equivalentTo", source="DOID:3721", source="EFO:0006738"}
xref: Orphanet:86855 {source="MONDO:equivalentTo"}
xref: SCTID:10639003 {source="DOID:3721", source="EFO:0006738"}
xref: SCTID:109987008 {source="DOID:3721"}
xref: SCTID:154644004 {source="DOID:3721"}
xref: SCTID:188719003 {source="DOID:3721"}
xref: SCTID:188720009 {source="DOID:3721"}
xref: SCTID:189507001 {source="DOID:3721"}
xref: SCTID:190016004 {source="DOID:3721"}
xref: SCTID:190017008 {source="DOID:3721"}
xref: SCTID:190019006 {source="DOID:3721"}
xref: SCTID:269652000 {source="DOID:3721"}
xref: SCTID:274907000 {source="DOID:3721"}
xref: SCTID:302852008 {source="DOID:3721"}
xref: SCTID:308122007 {source="DOID:3721"}
xref: SCTID:415112005 {source="MONDO:equivalentTo", source="DOID:3721", source="EFO:0006738"}
xref: UMLS:C0032131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18506"}
is_a: MONDO:0004959 {source="DOID:3721", source="EFO:0006738", source="MESH:D010954", source="NCIT:C9349", source="Orphanet:86855"} ! plasma cell neoplasm

[Term]
id: MONDO:0005616
name: pulmonary mucoepidermoid carcinoma
def: "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." [NCIT:C45544]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung mucoepidermoid cancer" EXACT [NCIT:C45544]
synonym: "lung mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C45544]
synonym: "mucoepidermoid carcinoma of the lung" RELATED [ONCOTREE:LUMEC]
xref: DOID:0050932 {source="EFO:0006740", source="MONDO:equivalentTo"}
xref: EFO:0006740 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:310949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45544 {source="EFO:0006740", source="MONDO:equivalentTo"}
xref: ONCOTREE:LUMEC {source="MONDO:equivalentTo"}
xref: UMLS:C1708778 {source="MEDGEN:310949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003036 {source="DOID:0050932", source="MONDO:Redundant", source="NCIT:C45544"} ! mucoepidermoid carcinoma
is_a: MONDO:0005138 {source="DOID:0050932", source="EFO:0006740", source="NCIT:C45544"} ! lung carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0005617
name: undifferentiated carcinoma
def: "A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." [NCIT:C3692]
subset: otar {source="MONDO:OTAR"}
synonym: "anaplastic carcinoma" EXACT [NCIT:C3692]
synonym: "carcinoma, undifferentiated" EXACT [NCIT:C3692]
synonym: "carcinoma, undifferentiated, malignant" EXACT [NCIT:C3692]
synonym: "undifferentiated carcinoma" EXACT [NCIT:C3692]
xref: EFO:0006772 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8020/3 {source="NCIT:C3692"}
xref: ICDO:8021/3 {source="NCIT:C3692"}
xref: MEDGEN:60010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3692 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006772"}
xref: SCTID:38549000 {source="EFO:0006772"}
xref: UMLS:C0205698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60010"}
is_a: MONDO:0004993 {source="EFO:0006772", source="NCIT:C3692"} ! carcinoma

[Term]
id: MONDO:0005618
name: anxiety disorder
def: "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." [NCIT:C2878]
subset: otar {source="MONDO:OTAR"}
synonym: "anxiety" BROAD [DOID:2030, NCIT:C2878]
synonym: "anxiety disorder" EXACT [NCIT:C2878]
synonym: "anxiety state" EXACT [DOID:2030]
xref: DOID:2030 {source="EFO:0006788", source="MONDO:equivalentTo"}
xref: EFO:0006788 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F40-F48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:F41.9 {source="DOID:2030"}
xref: ICD9:300.09 {source="DOID:2030"}
xref: MEDGEN:361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001008 {source="MONDO:equivalentTo", source="DOID:2030"}
xref: NCIT:C2878 {source="EFO:0006788", source="MONDO:equivalentTo", source="DOID:2030"}
xref: SCTID:191703000 {source="DOID:2030"}
xref: SCTID:192405006 {source="DOID:2030"}
xref: SCTID:197480006 {source="EFO:0006788", source="MONDO:equivalentTo", source="DOID:2030"}
xref: SCTID:65673007 {source="DOID:2030"}
xref: UMLS:C0003469 {source="MEDGEN:361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="MESH:D001008", source="MONDO:Redundant", source="NCIT:C2878"} ! psychiatric disorder
is_a: MONDO:0005084 {source="EFO:0006788"} ! mental disorder

[Term]
id: MONDO:0005619
name: typhoid fever
alt_id: MONDO:0020486
def: "A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics." [NCIT:P378]
subset: gard_rare {source="GARD:9564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99745"}
subset: orphanet_rare {source="Orphanet:99745"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "typhoid" EXACT [DOID:13258]
synonym: "typhoid fever" EXACT [Orphanet:99745]
synonym: "typhoidal salmonellosis" EXACT [Orphanet:99745]
xref: DOID:13258 {source="EFO:0006789", source="MONDO:equivalentTo"}
xref: EFO:0006789 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9564 {source="MONDO:GARD"}
xref: ICD10CM:A01.0 {source="Orphanet:99745", source="Orphanet:99745/e", source="DOID:13258"}
xref: ICD10CM:A01.00 {source="DOID:13258"}
xref: icd11.foundation:1528414070 {source="Orphanet:99745", source="MONDO:equivalentTo"}
xref: ICD9:002.0 {source="EFO:0006789", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13258"}
xref: MEDGEN:11973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014435 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"}
xref: NCIT:C35089 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"}
xref: Orphanet:99745 {source="MONDO:equivalentTo"}
xref: SCTID:154270009 {source="DOID:13258"}
xref: SCTID:186091002 {source="DOID:13258"}
xref: SCTID:266174006 {source="DOID:13258"}
xref: SCTID:4834000 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"}
xref: UMLS:C0041466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11973"}
is_a: MONDO:0000314 {source="DOID:13258", source="MONDO:Redundant", source="MONDO:indirect"} ! primary bacterial infectious disease
is_a: MONDO:0000827 {source="Orphanet:99745"} ! salmonellosis
is_a: MONDO:0005113 {source="DOID:13258/inferred", source="EFO:0006789", source="MESH:D014435/inferred", source="MONDO:Redundant", source="NCIT:C35089"} ! bacterial infectious disease
relationship: disease_has_feature HP:0000988 {source="MONDO:Wikidata"} ! Skin rash
relationship: disease_has_feature HP:0001744 ! Splenomegaly
relationship: disease_has_feature HP:0001882 ! Leukopenia
relationship: disease_has_feature HP:0002019 {source="MONDO:Wikidata"} ! Constipation
relationship: disease_has_feature HP:0002239 {source="MONDO:Wikidata"} ! Gastrointestinal hemorrhage
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature MONDO:0002203 {source="MONDO:Wikidata"} ! constipation disorder
relationship: disease_has_feature MONDO:0006547 {source="MONDO:Wikidata"} ! exanthem
relationship: disease_has_feature MONDO:0006807 {source="MONDO:Wikidata"} ! intestinal perforation
relationship: disease_has_infectious_agent NCBITaxon:28901 {source="MONDO:Wikidata"} ! Salmonella enterica

[Term]
id: MONDO:0005620
name: cerebral amyloid angiopathy
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." [Orphanet:85458]
subset: gard_rare {source="GARD:10266", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85458"}
subset: orphanet_rare {source="Orphanet:85458"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAA, familial" RELATED [GARD:0010266]
synonym: "cerebral amyloid angiopathy, familial" RELATED [GARD:0010266]
synonym: "cerebral amyloid angiopathy, genetic" RELATED [GARD:0010266]
synonym: "dutch hereditary cerebral amyloid angiopathy" EXACT [DOID:9246]
synonym: "HCHWA" EXACT ABBREVIATION [Orphanet:85458]
synonym: "hereditary cerebral haemorrhage with amyloidosis - Dutch type" EXACT OMO:0003005 []
synonym: "hereditary cerebral hemorrhage with amyloidosis - Dutch type" EXACT [DOID:9246]
xref: DOID:9246 {source="MONDO:equivalentTo", source="EFO:0006790"}
xref: EFO:0006790 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10266 {source="MONDO:GARD"}
xref: ICD10CM:I68.0 {source="MONDO:equivalentTo"}
xref: ICD10EXP:E85.4+ {source="Orphanet:85458", source="Orphanet:85458/attributed", source="Orphanet:85458/ntbt"}
xref: ICD10EXP:I68.0* {source="Orphanet:85458", source="Orphanet:85458/attributed", source="Orphanet:85458/ntbt"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:267610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016657 {source="MONDO:equivalentTo", source="EFO:0006790"}
xref: MESH:D028243 {source="DOID:9246"}
xref: NCIT:C84625 {source="MONDO:equivalentTo", source="EFO:0006790"}
xref: Orphanet:85458 {source="MONDO:equivalentTo", source="DOID:9246"}
xref: SCTID:230724001 {source="MONDO:equivalentTo", source="EFO:0006790"}
xref: SCTID:56453003 {source="DOID:9246"}
xref: UMLS:C1510489 {source="MEDGEN:267610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011057 {source="EFO:0006790", source="ICD10CM:I68.0/inferred", source="MESH:D016657/inferred", source="NCIT:C84625", source="Orphanet:85458/inferred"} ! cerebrovascular disorder
is_a: MONDO:0018634 {source="Orphanet:85458"} ! hereditary amyloidosis
is_a: MONDO:0019065 {source="DOID:9246", source="MESH:D016657", source="MONDO:Redundant", source="Orphanet:85458"} ! amyloidosis

[Term]
id: MONDO:0005621
name: vascular brain injury
def: "Damage to the blood vessels of the brain" [EFO:0006791]
subset: otar {source="MONDO:OTAR"}
synonym: "Brain injury, Vascular" RELATED [MESH:D020214]
synonym: "Brain Vascular injury" RELATED [MESH:D020214]
synonym: "Brain Vascular trauma" RELATED [MESH:D020214]
synonym: "injury, Brain Vascular" RELATED [MESH:D020214]
synonym: "injury, Vascular Brain" RELATED [MESH:D020214]
synonym: "injury, Vascular, Brain" RELATED [MESH:D020214]
synonym: "trauma, Brain Vascular" RELATED [MESH:D020214]
synonym: "trauma, cerebrovascular" RELATED [MESH:D020214]
synonym: "Vascular Brain Injuries" RELATED [MESH:D020214]
synonym: "Vascular Brain injury" RELATED [MESH:D020214]
synonym: "Vascular injury, Brain" RELATED [MESH:D020214]
synonym: "Vascular trauma, Brain" RELATED [MESH:D020214]
synonym: "Vascular Traumas, Brain" RELATED [MESH:D020214]
xref: EFO:0006791 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D020214 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="EFO:0006791", source="MESH:D020214/inferred"} ! vascular disorder
is_a: MONDO:0011057 {source="MESH:D020214"} ! cerebrovascular disorder
is_a: MONDO:0043510 {source="https://orcid.org/0000-0001-5208-3432"} ! brain injury
is_a: MONDO:0044745 {source="MESH:D020214"} ! nervous system injury

[Term]
id: MONDO:0005622
name: obsolete vasculitis
is_obsolete: true
replaced_by: MONDO:0018882

[Term]
id: MONDO:0005623
name: autoimmune thyroid disease
def: "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis." [MESH:D013967]
comment: Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015) {source="EFO:0006812"}
subset: otar {source="MONDO:OTAR"}
synonym: "autoimmune thyroid gland inflammation" EXACT []
synonym: "autoimmune thyroiditides" RELATED [MESH:D013967]
synonym: "autoimmune thyroiditis" RELATED [MESH:D013967]
synonym: "lymphocytic thyroiditides" RELATED [MESH:D013967]
synonym: "lymphocytic thyroiditis" RELATED [MESH:D013967]
synonym: "lymphomatous thyroiditides" RELATED [MESH:D013967]
synonym: "lymphomatous thyroiditis" RELATED [MESH:D013967]
synonym: "thyroiditides, autoimmune" RELATED [MESH:D013967]
synonym: "thyroiditides, lymphocytic" RELATED [MESH:D013967]
synonym: "thyroiditides, lymphomatous" RELATED [MESH:D013967]
synonym: "thyroiditis, lymphocytic" RELATED [MESH:D013967]
synonym: "thyroiditis, lymphomatous" RELATED [MESH:D013967]
xref: EFO:0006812 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:183088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013967 {source="MONDO:equivalentTo", source="EFO:0006812"}
xref: SCTID:66944004 {source="EFO:0006812"}
xref: UMLS:C0920350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:183088"}
xref: Wikipedia:Autoimmune_thyroiditis {source="EFO:0006812"}
is_a: MONDO:0004126 {source="MESH:D013967", source="MONDO:Redundant"} ! thyroiditis
is_a: MONDO:0007179 {source="EFO:0006812", source="MESH:D013967", source="MONDO:indirect"} ! autoimmune disease
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_inflammation_site UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0005624
name: atrophic thyroiditis
def: "Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter." [doi:10.1007/978-1-60327-285-8_42]
comment: It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient
subset: otar {source="MONDO:OTAR"}
xref: EFO:0006813 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:536775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200336 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:83664006 {source="MONDO:equivalentTo"}
xref: UMLS:C0238183 {source="MEDGEN:536775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005623 {source="EFO:0006813"} ! autoimmune thyroid disease

[Term]
id: MONDO:0005625
name: cerebral malaria
def: "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures." [NCIT:C128373]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malarial encephalitis" EXACT [DOID:14069]
xref: DOID:14069 {source="EFO:0006857", source="MONDO:equivalentTo"}
xref: EFO:0006857 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B50.0 {source="DOID:14069"}
xref: ICD9:084.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:44258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016779 {source="MONDO:equivalentTo", source="DOID:14069"}
xref: NCIT:C128373 {source="MONDO:equivalentTo"}
xref: SCTID:186799006 {source="DOID:14069"}
xref: SCTID:53622003 {source="EFO:0006857", source="MONDO:equivalentTo", source="DOID:14069"}
xref: UMLS:C0024534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44258"}
xref: Wikipedia:Malaria {source="EFO:0006857"}
is_a: MONDO:0005136 {source="DOID:14069", source="EFO:0006857", source="MESH:D016779", source="MONDO:Redundant", source="NCIT:C128373"} ! malaria
intersection_of: MONDO:0005136 ! malaria
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0005626
name: epithelial neoplasm
def: "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas." [NCIT:C3709]
subset: otar {source="MONDO:OTAR"}
synonym: "epithelial neoplasm" EXACT [NCIT:C3709]
synonym: "epithelial neoplasms, NOS" RELATED EXCLUDE [NCIT:C3709]
synonym: "epithelioma" EXACT [NCIT:C3709]
xref: EFO:0006858 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009375 {source="MONDO:equivalentTo"}
xref: NCIT:C3709 {source="MONDO:equivalentTo", source="EFO:0006858"}
xref: SCTID:118285006 {source="MONDO:equivalentTo", source="EFO:0006858"}
xref: UMLS:C1368683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277963"}
is_a: MONDO:0005070 {source="EFO:0006858", source="MESH:D009375/inferred", source="MONDO:Redundant", source="NCIT:C3709/inferred"} ! neoplasm
intersection_of: MONDO:0005070 {source="NCIT:C3709"} ! neoplasm
intersection_of: disease_arises_from_structure CL:0000066 {source="NCIT:C3709"} ! epithelial cell

[Term]
id: MONDO:0005627
name: head and neck cancer
def: "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." [NCIT:C4013]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of craniocervical region" EXACT [MONDO:patterns/cancer]
synonym: "cancer of head and neck" EXACT [NCIT:C4013]
synonym: "cancer of the head and neck" EXACT [NCIT:C4013]
synonym: "craniocervical region cancer" EXACT [MONDO:patterns/location]
synonym: "head and neck cancer" EXACT [NCIT:C4013]
synonym: "head and neck cancer, NOS" RELATED EXCLUDE [NCIT:C4013]
synonym: "head and neck malignant neoplasia" EXACT [MONDO:patterns/cancer]
synonym: "head and neck neoplasm" BROAD [DOID:11934, MTH:NOCODE]
synonym: "head and neck tumors" BROAD [DOID:11934]
synonym: "head and neck tumours" BROAD OMO:0003005 []
synonym: "head/neck neoplasm" BROAD [DOID:11934]
synonym: "malignant craniocervical region neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant head and neck neoplasm" EXACT [NCIT:C4013]
synonym: "malignant head and neck tumor" EXACT [NCIT:C4013]
synonym: "malignant head and neck tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of craniocervical region" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of head and neck" EXACT [NCIT:C4013]
synonym: "malignant neoplasm of the head and neck" EXACT [NCIT:C4013]
synonym: "malignant tumor of head and neck" EXACT [NCIT:C4013]
synonym: "malignant tumor of the head and neck" EXACT [NCIT:C4013]
synonym: "malignant tumour of head and neck" EXACT OMO:0003005 []
synonym: "malignant tumour of the head and neck" EXACT OMO:0003005 []
synonym: "tumor of head and neck" BROAD EXCLUDE [DOID:11934]
synonym: "tumour of head and neck" BROAD OMO:0003005 []
xref: DOID:11934 {source="MONDO:equivalentTo", source="EFO:0006859"}
xref: EFO:0006859 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:78920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006258 {source="DOID:11934"}
xref: NCIT:C3077 {source="DOID:11934"}
xref: NCIT:C4013 {source="MONDO:equivalentTo", source="EFO:0006859"}
xref: SCTID:255055008 {source="DOID:11934"}
xref: SCTID:255056009 {source="EFO:0006859"}
xref: UMLS:C0278996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78920"}
is_a: MONDO:0004992 {source="DOID:11934", source="DOID:11934/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0005586 {source="EFO:0006859", source="MONDO:Redundant", source="NCIT:C4013"} ! head and neck neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0007811 ! craniocervical region

[Term]
id: MONDO:0005628
name: male breast carcinoma
def: "A malignant neoplasm involving the male breast." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "breast cancer in men" RELATED [GARD:0009312]
synonym: "breast cancer, male" RELATED [GARD:0009312]
synonym: "carcinoma of Male breast" EXACT [NCIT:C3862]
synonym: "carcinoma of male breast" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the Male breast" EXACT [NCIT:C3862]
synonym: "Male breast cancer" EXACT [NCIT:C3862]
synonym: "male breast cancer" EXACT [NCIT:C3862]
synonym: "Male breast carcinoma" EXACT [NCIT:C3862]
synonym: "male breast carcinoma" EXACT [MONDO:patterns/location]
synonym: "malignant neoplasm of male breast" EXACT [DOID:1614]
synonym: "neoplasm of male breast" EXACT [DOID:1614]
xref: DOID:1614 {source="EFO:0006861", source="MONDO:equivalentTo"}
xref: EFO:0006861 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:175.9 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1614"}
xref: MEDGEN:68650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018567 {source="MONDO:equivalentTo", source="DOID:1614"}
xref: NCIT:C3862 {source="EFO:0006861", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:126937006 {source="DOID:1614"}
xref: SCTID:372095001 {source="MONDO:equivalentTo"}
xref: UMLS:C0238033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68650"}
is_a: MONDO:0004989 {source="EFO:0006861", source="MONDO:Redundant", source="NCIT:C3862"} ! breast carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0016410 ! male breast

[Term]
id: MONDO:0005629
name: Acanthamoeba keratitis
def: "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear." [NCIT:C50450]
subset: gard_rare {source="GARD:9285", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67043"}
subset: orphanet_rare {source="Orphanet:67043"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acanthamoeba caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "keratitis, Acanthamoeba" EXACT [NCIT:C50450]
xref: DOID:11896 {source="EFO:0007126", source="MONDO:obsolete"}
xref: EFO:0007126 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9285 {source="MONDO:GARD"}
xref: ICD10EXP:B60.1+ {source="Orphanet:67043/ntbt", source="Orphanet:67043"}
xref: ICD10EXP:H19.2* {source="Orphanet:67043/ntbt", source="Orphanet:67043"}
xref: ICD9:370.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069408 {source="Orphanet:67043/e", source="Orphanet:67043"}
xref: MEDGEN:1268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015823 {source="EFO:0007126", source="Orphanet:67043/e", source="MONDO:equivalentTo", source="Orphanet:67043"}
xref: NCIT:C50450 {source="MONDO:equivalentTo"}
xref: Orphanet:67043 {source="MONDO:equivalentTo"}
xref: SCTID:231896005 {source="MONDO:equivalentTo"}
xref: UMLS:C0000880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1268"}
is_a: MONDO:0002428 {source="MESH:D015823/inferred", source="NCIT:C50450"} ! protozoa infectious disease
is_a: MONDO:0005135 {source="EFO:0007126", source="MESH:D015823/inferred", source="MONDO:Redundant", source="NCIT:C50450/inferred", source="Orphanet:67043"} ! parasitic infectious disease
intersection_of: MONDO:0003085 ! keratitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5754 ! Acanthamoeba
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis" xsd:anyURI {source="GARD:0009285"}

[Term]
id: MONDO:0005630
name: actinobacillosis
def: "A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs." [MESH:D000187]
synonym: "actinobacillosis, NOS" RELATED EXCLUDE [DOID:4974]
xref: DOID:4974 {source="EFO:0007127", source="MONDO:equivalentTo"}
xref: MESH:D000187 {source="EFO:0007127", source="DOID:4974", source="MONDO:equivalentTo"}
xref: SCTID:16140007 {source="DOID:4974", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D000187"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0024950 ! horse disease
is_a: MONDO:0024985 ! sheep disease
is_a: MONDO:0024990 ! swine disease
is_a: MONDO:0700050 {source="DOID:4974/inferred", source="EFO:0007127", source="MESH:D000187/inferred", source="MONDO:Redundant"} ! bacterial infectious disease, non-human animal
is_a: MONDO:0700059 {source="MESH:D000187", source="MONDO:Redundant"} ! Actinobacillus infectious disease, non-human animal
relationship: disease_has_infectious_agent NCBITaxon:723 ! Actinobacillus ureae
property_value: RO:0002175 NCBITaxon:9796 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0005631
name: actinomycosis
def: "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious." [https://rarediseases.info.nih.gov/diseases/5728/actinomycosis]
subset: gard_rare {source="GARD:5728", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457095"}
subset: orphanet_rare {source="Orphanet:457095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Actinomyces infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Actinomyces israeli" RELATED [GARD:0005728]
synonym: "Actinomycetes" RELATED [GARD:0005728]
synonym: "actinomycetoma" RELATED [DOID:8478]
synonym: "actinomycotic infection" RELATED EXCLUDE [DOID:8478]
synonym: "actinomycotic madura foot" EXACT [DOID:8478]
synonym: "actinomycotic mycetema" EXACT [DOID:8478]
synonym: "actinomycotic mycetoma of foot" EXACT [DOID:8478]
synonym: "anaerobic Actinomyces infection" RELATED [GARD:0005728]
synonym: "boil" RELATED [DOID:8478]
synonym: "canaliculitis" RELATED [GARD:0005728]
synonym: "infections, Actinomyces" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Keratoactinomycosis" RELATED [GARD:0005728]
synonym: "Madura foot due to Actinomadura" EXACT [DOID:8478]
xref: DOID:8478 {source="EFO:0007128", source="MONDO:equivalentTo"}
xref: EFO:0007128 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5728 {source="MONDO:GARD"}
xref: ICD10CM:A42 {source="DOID:8478"}
xref: ICD10CM:A42.0 {source="Orphanet:457095", source="Orphanet:457095/btnt"}
xref: ICD10CM:A42.1 {source="Orphanet:457095", source="Orphanet:457095/btnt"}
xref: ICD10CM:A42.2 {source="Orphanet:457095", source="Orphanet:457095/btnt"}
xref: ICD10CM:A42.7 {source="Orphanet:457095", source="Orphanet:457095/btnt"}
xref: ICD10CM:A42.8 {source="Orphanet:457095", source="Orphanet:457095/btnt"}
xref: ICD10CM:A42.9 {source="DOID:8478"}
xref: ICD9:039 {source="DOID:8478"}
xref: ICD9:039.9 {source="DOID:8478", source="MONDO:directSiblingOf"}
xref: MEDGEN:1733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000196 {source="DOID:8478", source="EFO:0007128", source="MONDO:equivalentTo"}
xref: NCIT:C34350 {source="DOID:8478", source="MONDO:equivalentTo"}
xref: Orphanet:457095 {source="MONDO:equivalentTo"}
xref: SCTID:11817007 {source="DOID:8478", source="MONDO:directSiblingOf"}
xref: SCTID:154314007 {source="DOID:8478"}
xref: SCTID:186402009 {source="DOID:8478"}
xref: SCTID:186405006 {source="DOID:8478"}
xref: SCTID:187335006 {source="DOID:8478"}
xref: SCTID:238416009 {source="DOID:8478"}
xref: SCTID:266185008 {source="DOID:8478"}
xref: SCTID:50508009 {source="DOID:8478"}
xref: UMLS:C0001261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1733"}
is_a: MONDO:0000315 {source="DOID:8478"} ! commensal bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:8478/inferred", source="EFO:0007128", source="MESH:D000196/inferred", source="MONDO:Redundant", source="NCIT:C34350", source="Orphanet:457095"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1654 ! Actinomyces
relationship: disease_has_infectious_agent NCBITaxon:1659 {source="MONDO:Wikidata"} ! Actinomyces israelii
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5728/actinomycosis" xsd:anyURI {source="GARD:0005728"}

[Term]
id: MONDO:0005632
name: acute chest syndrome
def: "A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia." [NCIT:C138179]
subset: otar {source="MONDO:OTAR"}
synonym: "ACS" EXACT ABBREVIATION [NCIT:C138179]
synonym: "acute chest syndrome in sickle cell disease" EXACT [DOID:1584]
xref: DOID:1584 {source="EFO:0007129", source="MONDO:equivalentTo"}
xref: EFO:0007129 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:517.3 {source="DOID:1584", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:196643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056586 {source="DOID:1584", source="EFO:0007129", source="MONDO:equivalentTo"}
xref: NCIT:C138179 {source="MONDO:equivalentTo"}
xref: SCTID:372146004 {source="DOID:1584", source="MONDO:equivalentTo"}
xref: UMLS:C0742343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196643"}
is_a: MONDO:0002254 {source="NCIT:C138179"} ! syndromic disease
is_a: MONDO:0005275 {source="DOID:1584", source="EFO:0007129", source="MESH:D056586"} ! lung disorder
relationship: disease_arises_from_feature MONDO:0011382 ! sickle cell anemia
relationship: disease_has_feature HP:0001974 ! Leukocytosis
relationship: disease_has_feature HP:0002789 ! Tachypnea
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0005633
name: obsolete acute disseminated encephalomyelitis
is_obsolete: true
replaced_by: MONDO:0019383

[Term]
id: MONDO:0005634
name: acute hemorrhagic conjunctivitis
def: "Acute conjunctivitis that is characterized by bleeding into the conjunctiva." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Apollo disease" EXACT [DOID:11227]
synonym: "epidemic hemorrhagic conjunctivitis" EXACT [DOID:11227, ICD9CM:077.4]
synonym: "viral conjunctivitis" RELATED [DOID:11227]
xref: DOID:11227 {source="MONDO:equivalentTo", source="EFO:0007131"}
xref: EFO:0007131 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:077.4 {source="DOID:11227"}
xref: MEDGEN:1094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003232 {source="DOID:11227", source="MONDO:equivalentTo", source="EFO:0007131"}
xref: NCIT:C34505 {source="DOID:11227", source="MONDO:equivalentTo"}
xref: SCTID:186677009 {source="DOID:11227"}
xref: SCTID:31502007 {source="DOID:11227"}
xref: SCTID:398264003 {source="DOID:11227", source="MONDO:equivalentTo"}
xref: SCTID:398273006 {source="DOID:11227"}
xref: UMLS:C0009765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1094"}
is_a: MONDO:0001214 {source="NCIT:C34505"} ! acute conjunctivitis
is_a: MONDO:0005108 {source="DOID:11227", source="EFO:0007131", source="MESH:D003232/inferred", source="MONDO:Redundant"} ! viral infectious disease
relationship: disease_has_feature HP:0000613 ! Photophobia
relationship: disease_has_infectious_agent NCBITaxon:12089 ! Coxsackievirus A24
relationship: disease_has_infectious_agent NCBITaxon:12090 ! enterovirus D70
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0005635
name: adenomyoma
def: "A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy." [NCIT:C3726]
subset: otar {source="MONDO:OTAR"}
synonym: "adenomyoma" EXACT [NCIT:C3726]
synonym: "adenomyoma (morphologic abnormality)" EXACT [DOID:2609]
synonym: "adenomyoma, benign" EXACT [NCIT:C3726]
xref: DOID:2609 {source="MONDO:equivalentTo", source="EFO:0007133"}
xref: EFO:0007133 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8932/0 {source="NCIT:C3726"}
xref: MEDGEN:64617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018194 {source="DOID:2609", source="MONDO:equivalentTo", source="EFO:0007133"}
xref: NCIT:C3726 {source="DOID:2609", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:40293003 {source="DOID:2609"}
xref: UMLS:C0206622 {source="MEDGEN:64617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000624 {source="NCIT:C3726"} ! benign female reproductive system neoplasm
relationship: excluded_subClassOf MONDO:0002928 {source="DOID:2609", source="https://orcid.org/0000-0001-5208-3432"} ! carcinosarcoma

[Term]
id: MONDO:0005636
name: adenosarcoma
def: "A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites." [NCIT:C9474]
subset: otar {source="MONDO:OTAR"}
synonym: "adenosarcoma" EXACT [NCIT:C9474]
synonym: "adenosarcoma (morphologic abnormality)" EXACT [DOID:1974]
synonym: "Mullerian adenosarcoma" EXACT [NCIT:C9474]
synonym: "mullerian adenosarcoma" EXACT [DOID:1974, NCIT:C9474]
synonym: "Müllerian adenosarcoma" EXACT [NCIT:C9474]
xref: DOID:1974 {source="MONDO:equivalentTo", source="EFO:0007134"}
xref: EFO:0007134 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8933/3 {source="NCIT:C9474"}
xref: MEDGEN:126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018195 {source="MONDO:equivalentTo", source="DOID:1974", source="EFO:0007134"}
xref: NCIT:C9474 {source="MONDO:equivalentTo", source="DOID:1974", source="MONDO:exact-label-match"}
xref: SCTID:189804002 {source="DOID:1974"}
xref: SCTID:31470003 {source="DOID:1974"}
xref: UMLS:C0001442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:126"}
is_a: MONDO:0001416 {source="NCIT:C9474"} ! female reproductive organ cancer
is_a: MONDO:0005853 {source="DOID:1974/inferred", source="NCIT:C9474"} ! malignant mixed neoplasm

[Term]
id: MONDO:0005637
name: obsolete adult-onset Still disease
synonym: "obsolete adult-onset Still's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0019355

[Term]
id: MONDO:0005638
name: agnosia
def: "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." [NCIT:C84542]
subset: otar {source="MONDO:OTAR"}
synonym: "agnosia" EXACT [NCIT:C84542]
synonym: "dyspraxia" RELATED EXCLUDE [DOID:4090]
synonym: "dyspraxia (finding)" RELATED [DOID:4090]
synonym: "dyspraxia syndrome" RELATED [DOID:4090]
synonym: "Monomodal visual amnesia" NARROW [GARD:0000008]
synonym: "primary visual agnosia" NARROW [GARD:0000008]
synonym: "visual amnesia" NARROW [GARD:0000008]
xref: DOID:4090 {source="EFO:0007136", source="MONDO:equivalentTo"}
xref: EFO:0007136 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:R48.1 {source="MONDO:equivalentTo", source="DOID:4090"}
xref: ICD10CM:R48.2 {source="DOID:4090", source="MONDO:directSiblingOf"}
xref: MEDGEN:174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000377 {source="EFO:0007136", source="MONDO:equivalentTo", source="DOID:4090"}
xref: MESH:D001072 {source="DOID:4090", source="MONDO:directSiblingOf"}
xref: NCIT:C84542 {source="MONDO:equivalentTo", source="DOID:4090"}
xref: SCTID:158320000 {source="DOID:4090"}
xref: SCTID:158322008 {source="DOID:4090"}
xref: SCTID:192146008 {source="DOID:4090"}
xref: SCTID:206989009 {source="DOID:4090"}
xref: SCTID:206991001 {source="DOID:4090"}
xref: SCTID:250058008 {source="DOID:4090"}
xref: SCTID:271724003 {source="DOID:4090"}
xref: SCTID:42341009 {source="DOID:4090"}
xref: SCTID:68345001 {source="MONDO:equivalentTo", source="DOID:4090"}
xref: SCTID:6950007 {source="DOID:4090"}
xref: UMLS:C0001816 {source="MEDGEN:174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024417 {source="MESH:D000377", source="MONDO:Entailed", source="MONDO:Redundant"} ! perceptual disorders
intersection_of: MONDO:0024417 ! perceptual disorders
intersection_of: disease_has_major_feature HP:0010524 ! Disturbed sensory perception
relationship: disease_disrupts NBO:0000551 ! visual object recognition
relationship: excluded_subClassOf MONDO:0002182 {source="DOID:4090", source="https://orcid.org/0000-0001-5208-3432"} ! communication disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8/agnosia" xsd:anyURI {source="GARD:0000008"}

[Term]
id: MONDO:0005639
name: AIDS related complex
def: "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids." [MESH:D000386]
subset: otar {source="MONDO:OTAR"}
xref: DOID:1308 {source="EFO:0007137", source="MONDO:obsolete"}
xref: EFO:0007137 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000386 {source="EFO:0007137", source="MONDO:equivalentTo"}
xref: UMLS:C0001857 {source="MEDGEN:1793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005109 {source="EFO:0007137", source="MESH:D000386"} ! HIV infectious disease

[Term]
id: MONDO:0005640
name: akinetic mutism
def: "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" [MESH:D000405]
subset: otar {source="MONDO:OTAR"}
synonym: "Coma vigilans" EXACT [DOID:4267]
synonym: "Coma vigilans (finding)" EXACT [DOID:4267]
xref: DOID:4267 {source="EFO:0007138", source="MONDO:equivalentTo"}
xref: EFO:0007138 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:7942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000405 {source="DOID:4267", source="EFO:0007138", source="MONDO:equivalentTo"}
xref: SCTID:5124002 {source="DOID:4267"}
xref: SCTID:53333005 {source="DOID:4267", source="MONDO:equivalentTo"}
xref: UMLS:C0001889 {source="MEDGEN:7942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:4267", source="EFO:0007138", source="MESH:D000405"} ! brain disorder

[Term]
id: MONDO:0005641
name: aleutian mink disease
def: "A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible." [MESH:D000453]
comment: This disease is considered zoonotic, i.e. able to be transmitted between human and non-human animals (PMID:19961696). In Mondo, we distinguish between human and non-human animal diseases, and we currently do not have a general term to represent a species-agnostic version of the disease. This record is for the non-human version of “aleutian mink disease”.
subset: otar {source="MONDO:OTAR"}
synonym: "Aleutian disease" RELATED [DOID:2934]
synonym: "Aleutian mink disease virus caused disease or disorder" RELATED [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Aleutian mink disease virus disease or disorder" RELATED [https://orcid.org/0000-0002-5002-8648]
synonym: "Aleutian mink disease virus infectious disease" RELATED [https://orcid.org/0000-0002-5002-8648]
xref: DOID:2934 {source="EFO:0007139", source="MONDO:relatedTo"}
xref: EFO:0007139 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:079.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D000453 {source="EFO:0007139", source="MONDO:relatedTo", source="DOID:2934"}
xref: SCTID:62251004 {source="MONDO:relatedTo", source="DOID:2934"}
is_a: MONDO:0700206 {source="DOID:2934", source="EFO:0007139", source="MESH:D000453/inferred"} ! Parvoviridae infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0100332 NCBITaxon:28314 ! disease has primary infectious agent Aleutian mink disease parvovirus
relationship: in_taxon NCBITaxon:169418 {source="https://orcid.org/0000-0002-5002-8648"} ! Mustelinae
relationship: MONDO:0700097 MONDO:1010029 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog aleutian mink disease, human
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6841" xsd:string

[Term]
id: MONDO:0005642
name: atopic conjunctivitis
def: "Conjunctivitis due to hypersensitivity to various allergens." [MESH:D003233]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic conjunctivitis" EXACT [MONDO:ambiguous, NCIT:C34506]
synonym: "allergic conjunctivitis (disease)" EXACT []
synonym: "allergic form of conjunctivitis (disease)" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "Atopic conjunctivitis" EXACT [NCIT:C34506]
xref: DOID:11204 {source="MONDO:equivalentTo", source="EFO:0007141"}
xref: EFO:0007141 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0007879 {source="MONDO:otherHierarchy"}
xref: ICD9:372.14 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003233 {source="DOID:11204", source="EFO:0007141"}
xref: NCIT:C34506 {source="DOID:11204", source="MONDO:equivalentTo"}
xref: SCTID:155168003 {source="DOID:11204"}
xref: SCTID:193868008 {source="DOID:11204"}
xref: SCTID:20212001 {source="DOID:11204"}
xref: SCTID:231854006 {source="DOID:11204"}
xref: SCTID:473460002 {source="DOID:11204", source="MONDO:equivalentTo"}
xref: UMLS:C0009766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3590"}
is_a: MONDO:0002314 {source="DOID:11204"} ! chronic conjunctivitis
is_a: MONDO:0003799 {source="DOID:11204/inferred", source="MESH:D003233", source="MONDO:Redundant", source="NCIT:C34506"} ! conjunctivitis
is_a: MONDO:0006170 {source="EFO:0007141", source="NCIT:C34506/inferred"} ! conjunctival disorder
intersection_of: MONDO:0003799 ! conjunctivitis
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity

[Term]
id: MONDO:0005643
name: Alphavirus infectious disease
def: "Virus diseases caused by members of the alphavirus genus of the family togaviridae." [MESH:D018354]
subset: otar {source="MONDO:OTAR"}
synonym: "Alphavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Alphavirus disease or disorder" EXACT []
xref: DOID:5029 {source="EFO:0007142", source="MONDO:obsolete"}
xref: EFO:0007142 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:64650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018354 {source="MONDO:equivalentTo", source="EFO:0007142"}
xref: UMLS:C0206752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64650"}
is_a: MONDO:0005108 {source="EFO:0007142", source="MESH:D018354/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11019 ! disease has primary infectious agent Alphavirus

[Term]
id: MONDO:0005644
name: amebiasis
def: "A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "amoebiasis" EXACT [DOID:9181]
synonym: "chronic intestinal amebiasis" RELATED [DOID:9181]
synonym: "entamoebiasis" EXACT [DOID:9181]
xref: DOID:9181 {source="MONDO:equivalentTo", source="EFO:0007144"}
xref: EFO:0007144 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A06 {source="DOID:9181"}
xref: ICD10CM:A06.9 {source="DOID:9181"}
xref: ICD9:006 {source="DOID:9181"}
xref: ICD9:006.9 {source="DOID:9181"}
xref: MEDGEN:1857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000562 {source="DOID:9181", source="MONDO:equivalentTo", source="EFO:0007144"}
xref: NCIT:C84551 {source="DOID:9181", source="MONDO:equivalentTo"}
xref: SCTID:105637008 {source="DOID:9181"}
xref: SCTID:111909004 {source="DOID:9181"}
xref: SCTID:111910009 {source="DOID:9181"}
xref: SCTID:154274000 {source="DOID:9181"}
xref: SCTID:186122001 {source="DOID:9181"}
xref: SCTID:187278004 {source="DOID:9181"}
xref: SCTID:282008000 {source="DOID:9181"}
xref: SCTID:387754006 {source="DOID:9181"}
xref: SCTID:388759003 {source="DOID:9181"}
xref: UMLS:C0002438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1857"}
is_a: MONDO:0002428 {source="DOID:9181", source="MESH:D000562"} ! protozoa infectious disease
is_a: MONDO:0005135 {source="DOID:9181/inferred", source="EFO:0007144", source="MESH:D000562/inferred", source="MONDO:Redundant", source="NCIT:C84551"} ! parasitic infectious disease
relationship: disease_has_infectious_agent NCBITaxon:5759 {source="MONDO:Wikidata"} ! Entamoeba histolytica

[Term]
id: MONDO:0005645
name: ancylostomiasis
def: "Infection by hookworms of the genus Ancylostoma." [NCIT:P378]
subset: gard_rare {source="GARD:9742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:78"}
subset: orphanet_rare {source="Orphanet:78"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ancylostoma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ancylostoma disease or disorder" EXACT []
synonym: "Ancylostoma duodenale infection" RELATED [GARD:0009742]
synonym: "Ancylostoma infectious disease" EXACT []
synonym: "hookworm infection" BROAD [Orphanet:78]
xref: DOID:12841 {source="MONDO:equivalentTo", source="EFO:0007145"}
xref: EFO:0007145 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9742 {source="MONDO:GARD"}
xref: ICD10CM:B76.0 {source="Orphanet:78", source="Orphanet:78/btnt", source="DOID:12841"}
xref: ICD10CM:B76.1 {source="Orphanet:78", source="Orphanet:78/btnt", source="MONDO:directSiblingOf"}
xref: ICD10CM:B76.8 {source="Orphanet:78", source="Orphanet:78/btnt"}
xref: ICD10CM:B76.9 {source="Orphanet:78", source="Orphanet:78/btnt"}
xref: ICD9:126.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10002255 {source="Orphanet:78", source="Orphanet:78/e"}
xref: MedDRA:10020376 {source="Orphanet:78", source="Orphanet:78/e"}
xref: MEDGEN:1522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000724 {source="Orphanet:78", source="MONDO:equivalentTo", source="Orphanet:78/e", source="MONDO:directSiblingOf", source="DOID:12841", source="EFO:0007145"}
xref: MESH:D006725 {source="Orphanet:78", source="Orphanet:78/e"}
xref: NCIT:C35805 {source="MONDO:equivalentTo", source="MONDO:directSiblingOf", source="DOID:12841"}
xref: Orphanet:78 {source="MONDO:equivalentTo"}
xref: SCTID:63479002 {source="MONDO:equivalentTo", source="DOID:12841"}
xref: SCTID:85807000 {source="DOID:12841"}
xref: UMLS:C0002831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1522"}
is_a: MONDO:0004664 {source="DOID:12841", source="MESH:D000724/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:12841/inferred", source="EFO:0007145", source="MESH:D000724/inferred", source="NCIT:C35805"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:29169 ! Ancylostoma

[Term]
id: MONDO:0005646
name: obsolete anisakiasis
is_obsolete: true
replaced_by: MONDO:0015200

[Term]
id: MONDO:0005647
name: anogenital human papillomavirus infection
def: "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "anogenital Human papilloma Virus infection" EXACT [NCIT:C4820]
synonym: "anogenital Human papilloma Virus infectious disease" EXACT [DOID:11168, NCIT:C4820]
synonym: "anogenital Human Papillomavirus infection" EXACT [NCIT:C4820]
synonym: "anogenital venereal wart" EXACT [DOID:11168]
synonym: "anogenital Warts" EXACT [DOID:11168]
synonym: "condyloma acuminatum" RELATED [DOID:11168, ICD9CM:078.11]
synonym: "genital wart virus infectious disease" EXACT [DOID:11168]
synonym: "genital Warts" EXACT [DOID:11168]
synonym: "venereal wart" EXACT [DOID:11168]
xref: DOID:11168 {source="EFO:0007147", source="MONDO:equivalentTo"}
xref: EFO:0007147 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A63.0 {source="DOID:11168"}
xref: ICD9:078.11 {source="DOID:11168"}
xref: MEDGEN:108217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003218 {source="EFO:0007147", source="MONDO:equivalentTo", source="DOID:11168"}
xref: NCIT:C2960 {source="DOID:11168"}
xref: NCIT:C4820 {source="MONDO:equivalentTo", source="DOID:11168"}
xref: SCTID:123157002 {source="DOID:11168"}
xref: SCTID:154361008 {source="DOID:11168"}
xref: SCTID:154365004 {source="DOID:11168"}
xref: SCTID:186688003 {source="DOID:11168"}
xref: SCTID:22020001 {source="DOID:11168"}
xref: SCTID:240542006 {source="DOID:11168"}
xref: SCTID:266113007 {source="MONDO:equivalentTo", source="DOID:11168"}
xref: SCTID:266198004 {source="DOID:11168"}
xref: SCTID:302812006 {source="DOID:11168"}
xref: UMLS:C0554632 {source="MEDGEN:108217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:11168", source="EFO:0007147", source="MESH:D003218/inferred", source="MONDO:0005647/inferred", source="MONDO:Redundant", source="NCIT:C4820/inferred"} ! viral infectious disease
is_a: MONDO:0005161 {source="NCIT:C4820"} ! human papilloma virus infection
is_a: MONDO:0021682 {source="MESH:D003218"} ! viral sexually transmitted disease
relationship: disease_has_infectious_agent NCBITaxon:173087 ! Human papillomavirus types

[Term]
id: MONDO:0005648
name: aortic valve insufficiency
def: "Dysfunction of the aortic valve characterized by incomplete valve closure." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "aortic incompetence" EXACT [DOID:57]
synonym: "aortic insufficiency" EXACT [DOID:57]
synonym: "aortic regurgitation" EXACT [DOID:57]
synonym: "Corrigan's disease" RELATED [DOID:57]
synonym: "rheumatic aortic insufficiency" EXACT [DOID:57, ICD9CM:395.1]
synonym: "rheumatic aortic regurgitation" EXACT [DOID:57]
synonym: "rheumatic aortic valve insufficiency" EXACT [DOID:57]
synonym: "rheumatic aortic valve regurgitation" EXACT [DOID:57]
xref: DOID:57 {source="EFO:0007148", source="MONDO:equivalentTo"}
xref: EFO:0007148 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I06.1 {source="DOID:57", source="MONDO:equivalentTo"}
xref: ICD9:395.1 {source="DOID:57", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:396.3 {source="DOID:57"}
xref: MEDGEN:8153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001022 {source="EFO:0007148", source="DOID:57", source="MONDO:equivalentTo"}
xref: NANDO:2200307 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50861 {source="DOID:57"}
xref: NCIT:C51223 {source="DOID:57", source="MONDO:equivalentTo"}
xref: SCTID:155283004 {source="DOID:57"}
xref: SCTID:194736003 {source="DOID:57"}
xref: SCTID:60234000 {source="DOID:57"}
xref: SCTID:78031003 {source="DOID:57", source="MONDO:equivalentTo"}
xref: UMLS:C0003504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8153"}
is_a: MONDO:0003803 {source="DOID:57", source="NCIT:C51223"} ! aortic valve disorder
is_a: MONDO:0005561 {source="EFO:0007148", source="MONDO:Redundant", source="MONDO:indirect"} ! aortic disorder
intersection_of: MONDO:0020674 ! vascular insufficiency disorder
intersection_of: disease_has_location UBERON:0002137 ! aortic valve

[Term]
id: MONDO:0005649
name: appendicitis
def: "Acute inflammation of the vermiform appendix." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute appendicitis" NARROW [DOID:8337]
synonym: "acute appendicitis with generalised peritonitis" NARROW OMO:0003005 []
synonym: "acute appendicitis with generalized peritonitis" NARROW [DOID:8337]
synonym: "acute appendicitis with peritoneal abscess" NARROW [DOID:8337]
synonym: "inflammation of vermiform appendix" EXACT []
synonym: "vermiform appendix inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:8337 {source="EFO:0007149", source="MONDO:equivalentTo"}
xref: EFO:0007149 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K37 {source="DOID:8337"}
xref: ICD9:540-543.99 {source="DOID:8337"}
xref: ICD9:541 {source="DOID:8337"}
xref: MEDGEN:1630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001064 {source="DOID:8337", source="EFO:0007149", source="MONDO:equivalentTo"}
xref: NCIT:C35145 {source="DOID:8337", source="MONDO:equivalentTo"}
xref: SCTID:155728006 {source="DOID:8337"}
xref: SCTID:155729003 {source="DOID:8337"}
xref: SCTID:155733005 {source="DOID:8337"}
xref: SCTID:155736002 {source="DOID:8337"}
xref: SCTID:196785005 {source="DOID:8337"}
xref: SCTID:307530000 {source="DOID:8337"}
xref: SCTID:74400008 {source="DOID:8337", source="MONDO:equivalentTo"}
xref: UMLS:C0003615 {source="MEDGEN:1630", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002031 {source="DOID:8337", source="MESH:D001064", source="MONDO:Entailed", source="MONDO:Redundant"} ! cecal disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001154 ! vermiform appendix
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain

[Term]
id: MONDO:0005650
name: Arenaviridae infectious disease
def: "Virus diseases caused by the arenaviridae." [MESH:D001117]
subset: otar {source="MONDO:OTAR"}
synonym: "Arenaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Arenaviridae disease or disorder" EXACT []
synonym: "Arenaviridae infection" RELATED [MESH:D001117]
synonym: "arenavirus infection" RELATED [MESH:D001117]
synonym: "arenavirus infections" RELATED [MESH:D001117]
synonym: "arenavirus infectious disease" EXACT [MONDO:0024385]
synonym: "disease caused by arenavirus" RELATED []
synonym: "disease due to arenavirus" EXACT []
synonym: "infection, Arenaviridae" RELATED [MESH:D001117]
synonym: "infection, arenavirus" RELATED [MESH:D001117]
synonym: "infections, Arenaviridae" RELATED [MESH:D001117]
synonym: "infections, arenavirus" RELATED [MESH:D001117]
xref: DOID:3944 {source="MONDO:equivalentTo", source="EFO:0007150", source="MONDO:obsolete"}
xref: EFO:0007150 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D001117 {source="MONDO:equivalentTo", source="EFO:0007150"}
xref: SCTID:3303004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007150", source="MESH:D001117/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11617 ! disease has primary infectious agent Arenaviridae

[Term]
id: MONDO:0005651
name: arenavirus hemorrhagic fever
alt_id: MONDO:0024384
def: "A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." [EFO:0007151]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "arenaviral hemorrhagic fever" EXACT []
xref: DOID:9535 {source="EFO:0007151", source="MONDO:obsolete"}
xref: ICD9:078.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006478 {source="EFO:0007151"}
xref: SCTID:73730005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153112 {source="MONDO:equivalentTo", source="MEDGEN:509153", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007151", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0018087 {source="MONDO:Redundant"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:11617 ! disease has primary infectious agent Arenaviridae

[Term]
id: MONDO:0005652
name: Arterivirus infectious disease
def: "Infections caused by viruses of the family arteriviridae." [MESH:D018174]
subset: otar {source="MONDO:OTAR"}
synonym: "Arterivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Arterivirus disease or disorder" EXACT []
xref: DOID:3718 {source="MONDO:obsolete", source="EFO:0007152"}
xref: EFO:0007152 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:60190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018174 {source="MONDO:equivalentTo", source="EFO:0007152"}
xref: UMLS:C0206604 {source="MEDGEN:60190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007152", source="MESH:D018174/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:76803 ! disease has primary infectious agent Arteriviridae

[Term]
id: MONDO:0005653
name: obsolete asbestosis
is_obsolete: true
replaced_by: MONDO:0016466

[Term]
id: MONDO:0005654
name: ascariasis
def: "An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur." [NCIT:C128392]
subset: otar {source="MONDO:OTAR"}
synonym: "ascariasis - roundworm" EXACT [DOID:456]
synonym: "Ascaris lumbricoides caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ascaris lumbricoides disease or disorder" EXACT []
synonym: "Ascaris lumbricoides infection" RELATED [DOID:456]
synonym: "Ascaris lumbricoides infectious disease" EXACT []
xref: CSP:1248-7284 {source="DOID:456"}
xref: DOID:456 {source="MONDO:equivalentTo", source="EFO:0007154"}
xref: EFO:0007154 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B77 {source="DOID:456", source="MONDO:equivalentTo"}
xref: ICD10CM:B77.9 {source="DOID:456"}
xref: ICD9:127.0 {source="DOID:456", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001196 {source="DOID:456", source="MONDO:equivalentTo", source="EFO:0007154"}
xref: NCIT:C128392 {source="MONDO:equivalentTo"}
xref: SCTID:154411000 {source="DOID:456"}
xref: SCTID:187172007 {source="DOID:456"}
xref: SCTID:187536006 {source="DOID:456"}
xref: SCTID:2435008 {source="DOID:456", source="MONDO:equivalentTo"}
xref: SCTID:271435007 {source="DOID:456"}
xref: UMLS:C0003950 {source="MEDGEN:2087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:456", source="ICD10CM:B77", source="MESH:D001196/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:456/inferred", source="EFO:0007154", source="MESH:D001196/inferred", source="MONDO:Redundant", source="NCIT:C128392"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6252 ! Ascaris lumbricoides

[Term]
id: MONDO:0005655
name: ascaridiasis
def: "Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea." [MESH:D001198]
subset: otar {source="MONDO:OTAR"}
synonym: "Ascaridia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ascaridia disease or disorder" EXACT []
synonym: "Ascaridia infectious disease" EXACT []
synonym: "ascaridiosis" RELATED []
synonym: "infection by Ascaridia" EXACT []
synonym: "infection caused by Ascaridia" RELATED []
xref: DOID:3108 {source="MONDO:equivalentTo", source="EFO:0007155"}
xref: EFO:0007155 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B77 {source="DOID:3108", source="MONDO:directSiblingOf"}
xref: MEDGEN:2089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001198 {source="MONDO:equivalentTo", source="DOID:3108", source="EFO:0007155"}
xref: SCTID:2435008 {source="DOID:3108", source="MONDO:directSiblingOf"}
xref: SCTID:76160002 {source="MONDO:equivalentTo", source="DOID:3108"}
xref: UMLS:C0003952 {source="MEDGEN:2089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:3108", source="MESH:D001198/inferred"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:46684 ! Ascaridia

[Term]
id: MONDO:0005656
name: Ascaridida infectious disease
def: "Infections with nematodes of the order ascaridida." [MESH:D017191]
synonym: "Ascaridida caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ascaridida disease or disorder" EXACT []
synonym: "Ascaridida infection" RELATED [MESH:D017191]
synonym: "infection, Ascaridida" RELATED [MESH:D017191]
synonym: "infections, Ascaridida" RELATED [MESH:D017191]
xref: DOID:457 {source="MONDO:obsolete", source="EFO:0007156"}
xref: MESH:D017191 {source="MONDO:equivalentTo", source="EFO:0007156"}
is_a: MONDO:0005135 {source="EFO:0007156", source="MESH:D017191/inferred"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6249 ! Ascaridomorpha

[Term]
id: MONDO:0005657
name: aspergillosis
def: "Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas." [https://rarediseases.info.nih.gov/diseases/5856/aspergillosis]
subset: gard_rare {source="GARD:5856", source="MONDO:GARD"}
subset: nord_rare {source="NORD:814", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1163"}
subset: orphanet_rare {source="Orphanet:1163"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection due to Aspergillus" EXACT [DOID:13564]
xref: CSP:1988-4002 {source="DOID:13564"}
xref: DOID:13564 {source="MONDO:equivalentTo", source="EFO:0007157"}
xref: EFO:0007157 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5856 {source="MONDO:GARD"}
xref: ICD10CM:B44 {source="MONDO:equivalentTo", source="DOID:13564"}
xref: ICD10CM:B44.0 {source="Orphanet:1163/btnt", source="Orphanet:1163"}
xref: ICD10CM:B44.1 {source="Orphanet:1163/btnt", source="Orphanet:1163"}
xref: ICD10CM:B44.2 {source="Orphanet:1163/btnt", source="Orphanet:1163"}
xref: ICD10CM:B44.7 {source="Orphanet:1163/btnt", source="Orphanet:1163"}
xref: ICD10CM:B44.8 {source="Orphanet:1163/btnt", source="Orphanet:1163"}
xref: ICD10CM:B44.9 {source="Orphanet:1163/btnt", source="DOID:13564", source="Orphanet:1163"}
xref: icd11.foundation:1913468488 {source="MONDO:equivalentTo", source="Orphanet:1163"}
xref: ICD9:117.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13564"}
xref: MedDRA:10003488 {source="Orphanet:1163/e", source="Orphanet:1163"}
xref: MEDGEN:13939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001228 {source="Orphanet:1163/e", source="MONDO:equivalentTo", source="DOID:13564", source="EFO:0007157", source="Orphanet:1163"}
xref: NCIT:C2886 {source="MONDO:equivalentTo", source="DOID:13564"}
xref: NORD:814 {source="MONDO:NORD"}
xref: Orphanet:1163 {source="MONDO:equivalentTo"}
xref: SCTID:154408001 {source="DOID:13564"}
xref: SCTID:187087004 {source="DOID:13564"}
xref: SCTID:187492008 {source="DOID:13564"}
xref: SCTID:266218008 {source="DOID:13564"}
xref: SCTID:65553006 {source="MONDO:equivalentTo", source="DOID:13564"}
xref: UMLS:C0004030 {source="MONDO:equivalentTo", source="MEDGEN:13939", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="DOID:13564/inferred", source="ICD10CM:B44", source="MESH:D001228/inferred", source="MONDO:Redundant", source="NCIT:C2886", source="Orphanet:1163"} ! fungal infectious disease
is_a: MONDO:0002312 {source="DOID:13564", source="MONDO:Redundant"} ! opportunistic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5052 ! Aspergillus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare
relationship: has_characteristic MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5856/aspergillosis" xsd:anyURI {source="GARD:0005856"}

[Term]
id: MONDO:0005658
name: Astroviridae infectious disease
def: "Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets." [MESH:D019350]
xref: DOID:4412 {source="EFO:0007158", source="MONDO:obsolete"}
xref: MEDGEN:84000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019350 {source="EFO:0007158", source="MONDO:equivalentTo"}
xref: UMLS:C0376550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:84000"}
is_a: MONDO:0005108 {source="EFO:0007158", source="MESH:D019350/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:39733 ! disease has primary infectious agent Astroviridae

[Term]
id: MONDO:0005659
name: atrophic rhinitis
def: "A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena)." [MESH:D012222]
subset: otar {source="MONDO:OTAR"}
synonym: "dry rhinitis" EXACT [DOID:4731]
synonym: "Ozaena" EXACT [DOID:4731]
synonym: "ozena" EXACT [DOID:4731]
synonym: "rhinitis sicca" RELATED [DOID:4731]
synonym: "rhinitis, atrophic" EXACT [DOID:4731]
xref: DOID:4731 {source="EFO:0007159", source="MONDO:equivalentTo"}
xref: EFO:0007159 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:48450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012222 {source="EFO:0007159", source="DOID:4731", source="MONDO:equivalentTo"}
xref: SCTID:28111002 {source="DOID:4731"}
xref: SCTID:69646003 {source="MONDO:equivalentTo"}
xref: UMLS:C0035459 {source="MEDGEN:48450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003014 {source="DOID:4731", source="MESH:D012222"} ! rhinitis

[Term]
id: MONDO:0005660
name: Avulavirus infectious disease
def: "Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl." [MESH:D045463]
xref: DOID:2930 {source="EFO:0007161", source="MONDO:obsolete"}
xref: MEDGEN:226249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045463 {source="MONDO:equivalentTo", source="EFO:0007161"}
xref: UMLS:C1258034 {source="MONDO:equivalentTo", source="MEDGEN:226249", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007161", source="MESH:D045463/inferred", source="MONDO:Entailed", source="MONDO:indirect"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:260963 ! disease has primary infectious agent Avulavirus

[Term]
id: MONDO:0005661
name: babesiosis
def: "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." [https://rarediseases.info.nih.gov/diseases/5878/babesiosis]
subset: gard_rare {source="GARD:5878", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:832"}
subset: ordo_disorder {source="Orphanet:108"}
subset: orphanet_rare {source="Orphanet:108"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Babesia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Babesia disease or disorder" EXACT []
synonym: "Babesia infectious disease" EXACT []
synonym: "Babesia parasite infection" RELATED [GARD:0005878]
synonym: "babesiasis" EXACT [DOID:9643]
synonym: "Human babesiosis" RELATED [GARD:0005878]
synonym: "infection by Babesia" EXACT [DOID:9643]
synonym: "piroplasmosis" EXACT [DOID:9643]
xref: DOID:9643 {source="MONDO:equivalentTo", source="EFO:0007162"}
xref: EFO:0007162 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5878 {source="MONDO:GARD"}
xref: ICD10CM:B60.0 {source="Orphanet:108", source="MONDO:equivalentTo", source="Orphanet:108/e", source="DOID:9643"}
xref: icd11.foundation:1947003329 {source="Orphanet:108", source="MONDO:equivalentTo"}
xref: ICD9:088.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9643"}
xref: MedDRA:10003965 {source="Orphanet:108", source="Orphanet:108/e"}
xref: MEDGEN:2523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001404 {source="Orphanet:108", source="MONDO:equivalentTo", source="EFO:0007162", source="Orphanet:108/e", source="DOID:9643"}
xref: NCIT:C84581 {source="MONDO:equivalentTo", source="DOID:9643"}
xref: NORD:832 {source="MONDO:NORD"}
xref: Orphanet:108 {source="MONDO:equivalentTo"}
xref: SCTID:187241002 {source="DOID:9643"}
xref: SCTID:21061004 {source="MONDO:equivalentTo", source="DOID:9643"}
xref: SCTID:276204002 {source="DOID:9643"}
xref: UMLS:C0004576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2523"}
is_a: MONDO:0002428 {source="DOID:9643", source="MESH:D001404/inferred"} ! protozoa infectious disease
is_a: MONDO:0005135 {source="DOID:9643/inferred", source="EFO:0007162", source="MESH:D001404/inferred", source="MONDO:Redundant", source="NCIT:C84581", source="Orphanet:108"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5864 ! Babesia
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature MONDO:0002009 {source="MONDO:Wikidata"} ! major depressive disorder
relationship: disease_has_infectious_agent NCBITaxon:5864 {source="MONDO:Wikidata"} ! Babesia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5878/babesiosis" xsd:anyURI {source="GARD:0005878"}

[Term]
id: MONDO:0005662
name: balantidiasis
def: "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer." [MESH:D001447]
subset: gard_rare {source="GARD:809", source="MONDO:GARD"}
subset: nord_rare {source="NORD:833", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1223"}
subset: orphanet_rare {source="Orphanet:1223"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B coli infection" RELATED [GARD:0000809]
synonym: "Balantidiases" RELATED [MESH:D001447]
synonym: "balantidiosis" EXACT [Orphanet:1223]
synonym: "Balantidium coli infection" RELATED [GARD:0000809]
synonym: "ciliary dysentery" EXACT [Orphanet:1223]
synonym: "Human balantidiasis" RELATED [GARD:0000809]
synonym: "large-intestinal infection with Balantidium coli" RELATED [GARD:0000809]
xref: DOID:12386 {source="MONDO:equivalentTo", source="EFO:0007163"}
xref: EFO:0007163 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:809 {source="MONDO:GARD"}
xref: ICD10CM:A07.0 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="Orphanet:1223/e"}
xref: icd11.foundation:2090337975 {source="Orphanet:1223", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:007.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12386"}
xref: MedDRA:10004080 {source="Orphanet:1223", source="Orphanet:1223/e"}
xref: MEDGEN:2540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531629 {source="Orphanet:1223", source="Orphanet:1223/e"}
xref: MESH:D001447 {source="Orphanet:1223", source="MONDO:equivalentTo", source="DOID:12386", source="EFO:0007163", source="Orphanet:1223/e"}
xref: NCIT:C84583 {source="MONDO:equivalentTo", source="DOID:12386"}
xref: NORD:833 {source="MONDO:NORD"}
xref: Orphanet:1223 {source="MONDO:equivalentTo"}
xref: SCTID:105638003 {source="DOID:12386"}
xref: SCTID:57725006 {source="MONDO:equivalentTo", source="DOID:12386"}
xref: UMLS:C0004692 {source="MEDGEN:2540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002428 {source="DOID:12386", source="MESH:D001447/inferred"} ! protozoa infectious disease
is_a: MONDO:0005135 {source="DOID:12386/inferred", source="EFO:0007163", source="MESH:D001447/inferred", source="MONDO:Redundant", source="NCIT:C84583"} ! parasitic infectious disease
is_a: MONDO:0024270 {source="MESH:D001447"} ! parasitic intestinal disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:71584 ! Balantidium
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_infectious_agent NCBITaxon:71585 {source="MONDO:Wikidata"} ! Balantioides coli
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/809/balantidiasis" xsd:anyURI {source="GARD:0000809"}

[Term]
id: MONDO:0005663
name: Barre-Lieou syndrome
def: "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo." [NCIT:P378]
synonym: "Cervicocranial syndrome" EXACT [DOID:6692, ICD9CM:723.2, NCIT:C34411]
synonym: "posterior cervical sympathetic syndrome" EXACT [DOID:6692]
xref: DOID:6692 {source="MONDO:equivalentTo", source="EFO:0007165"}
xref: ICD10CM:M53.0 {source="MONDO:equivalentTo", source="DOID:6692"}
xref: ICD9:723.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:87688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055010 {source="MONDO:equivalentTo", source="DOID:6692", source="EFO:0007165"}
xref: NCIT:C34411 {source="MONDO:equivalentTo", source="DOID:6692"}
xref: SCTID:17300000 {source="MONDO:equivalentTo", source="DOID:6692"}
xref: UMLS:C0376378 {source="MEDGEN:87688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:6692", source="NCIT:C34411"} ! syndromic disease
is_a: MONDO:0005071 {source="EFO:0007165"} ! nervous system disorder
relationship: disease_arises_from_feature MONDO:0037747 ! spinal injury
relationship: disease_has_feature HP:0002321 ! Vertigo
relationship: disease_has_feature HP:0012393 ! Allergy
relationship: disease_has_feature HP:0012531 ! Pain
relationship: disease_has_feature HP:0012532 ! Chronic pain

[Term]
id: MONDO:0005664
name: bartonellosis
def: "An infectious disease produced by bacteria of the genus Bartonella." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/33, Wikipedia:Bartonellosis]
subset: otar {source="MONDO:OTAR"}
synonym: "Bartonella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bartonella disease or disorder" EXACT []
synonym: "Bartonella infection" EXACT [NCIT:C84586]
synonym: "Bartonella infectious disease" EXACT [DOID:11102]
synonym: "bartonelliasis" EXACT [DOID:11102]
synonym: "Rochalimaea infection" RELATED [MESH:D001474]
synonym: "Rochalimaea infection (disorder)" EXACT DEPRECATED [DOID:11102, https://medical-dictionary.thefreedictionary.com/Rochalimaea]
synonym: "Rochalimaea infections" RELATED [MESH:D001474]
xref: DOID:11102 {source="MONDO:equivalentTo", source="EFO:0007166"}
xref: EFO:0007166 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A44 {source="MONDO:equivalentTo", source="DOID:11102"}
xref: ICD10CM:A44.9 {source="DOID:11102"}
xref: ICD9:088.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11102"}
xref: MEDGEN:504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001474 {source="MONDO:equivalentTo", source="EFO:0007166", source="DOID:11102"}
xref: NCIT:C84586 {source="MONDO:equivalentTo", source="DOID:11102"}
xref: SCTID:17116008 {source="DOID:11102"}
xref: SCTID:186824002 {source="DOID:11102"}
xref: SCTID:187340003 {source="DOID:11102"}
xref: SCTID:240454008 {source="DOID:11102"}
xref: SCTID:240623002 {source="DOID:11102"}
xref: SCTID:266123003 {source="MONDO:equivalentTo", source="DOID:11102"}
xref: UMLS:C0004771 {source="MEDGEN:504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:11102"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11102/inferred", source="EFO:0007166", source="MESH:D001474/inferred", source="MONDO:Redundant", source="NCIT:C84586"} ! bacterial infectious disease
is_a: MONDO:0006924 {source="MESH:D001474", source="MONDO:Entailed", source="MONDO:Redundant"} ! Bartonellaceae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:773 ! Bartonella
relationship: disease_has_infectious_agent NCBITaxon:773 {source="MONDO:Wikidata"} ! Bartonella

[Term]
id: MONDO:0005665
name: Bell's palsy
def: "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." [NCIT:C26769]
subset: otar {source="MONDO:OTAR"}
synonym: "Bell palsy" EXACT [DOID:12506, Orphanet:2810]
synonym: "Bell's (facial) palsy" EXACT [DOID:12506]
synonym: "facial nerve palsy" EXACT [MONDO:patterns/location, NCIT:C26769]
synonym: "facial nerve paralysis" EXACT [NCIT:C26769]
synonym: "facial palsy" RELATED [NCIT:C26769]
synonym: "nerve paralysis, Facial" EXACT [NCIT:C26769]
synonym: "palsy of facial nerve" EXACT [MONDO:design_pattern]
synonym: "paralysis Of Facial nerve" EXACT [NCIT:C26769]
xref: DOID:12506 {source="MONDO:equivalentTo", source="EFO:0007167"}
xref: EFO:0007167 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G51.0 {source="DOID:12506", source="MONDO:equivalentTo"}
xref: ICD9:351.0 {source="DOID:12506", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:87660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020330 {source="DOID:12506", source="MONDO:equivalentTo", source="EFO:0007167"}
xref: NCIT:C26769 {source="MONDO:equivalentTo"}
xref: Orphanet:2810 {source="MONDO:equivalentObsolete"}
xref: SCTID:155070005 {source="DOID:12506"}
xref: SCTID:193093009 {source="DOID:12506", source="MONDO:equivalentTo"}
xref: SCTID:267703001 {source="DOID:12506"}
xref: SCTID:79359001 {source="DOID:12506"}
xref: UMLS:C0376175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87660"}
is_a: MONDO:0001835 {source="DOID:12506"} ! facial paralysis
is_a: MONDO:0002098 {source="DOID:12506/inferred", source="ICD10CM:G51.0", source="MESH:D020330", source="MONDO:Redundant", source="NCIT:C26769"} ! facial nerve disorder
is_a: MONDO:0002782 {source="NCIT:C26769"} ! cranial nerve palsy
intersection_of: MONDO:0006496 ! palsy
intersection_of: disease_has_location UBERON:0001647 ! facial nerve

[Term]
id: MONDO:0005666
name: obsolete berylliosis
is_obsolete: true
replaced_by: MONDO:0015274

[Term]
id: MONDO:0005667
name: biliary dyskinesia
def: "A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction." [MESH:D001657]
comment: Editor note: consider ciliary classification
subset: otar {source="MONDO:OTAR"}
synonym: "sphincter of Oddi dysfunction" EXACT [DOID:4140]
xref: DOID:4140 {source="EFO:0007169", source="MONDO:equivalentTo"}
xref: EFO:0007169 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0012396 {source="MONDO:otherHierarchy", source="DOID:4140"}
xref: ICD9:575.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:2627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001657 {source="EFO:0007169", source="MONDO:equivalentTo", source="DOID:4140"}
xref: SCTID:197432008 {source="MONDO:equivalentTo", source="DOID:4140"}
xref: SCTID:43469007 {source="DOID:4140"}
xref: UMLS:C0005416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2627"}
is_a: MONDO:0002886 {source="MESH:D001657", source="MONDO:Redundant"} ! common bile duct disorder
is_a: MONDO:0005281 {source="DOID:4140", source="EFO:0007169"} ! gallbladder disorder
relationship: disease_has_location UBERON:0004915 ! sphincter of hepatopancreatic ampulla

[Term]
id: MONDO:0005668
name: bird fancier's lung
def: "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis." [NCIT:C34425]
subset: gard_rare {source="GARD:16924", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99908"}
subset: orphanet_rare {source="Orphanet:99908"}
subset: rare
synonym: "Avian hypersensitivity pneumonitis" EXACT [DOID:13891, NCIT:C34425]
synonym: "bird breeder's lung" EXACT [DOID:13891]
synonym: "bird fancier lung" EXACT [DOID:13891, Orphanet:99908]
synonym: "bird fancier's lung" EXACT [NCIT:C34425]
synonym: "bird-breeder's lung" RELATED [NCIT:C34425]
synonym: "bird-fancier's lung" EXACT [DOID:13891]
synonym: "bird-fanciers' lung" EXACT [DOID:13891, ICD9CM:495.2]
synonym: "pigeon breeder's lung" EXACT [DOID:13891]
synonym: "pigeon-breeder lung disease" EXACT [MONDO:0020536]
synonym: "pigeon-breeder's lung" EXACT [NCIT:C34425]
synonym: "poultry worker's lung" RELATED [DOID:13891]
xref: DOID:13891 {source="MONDO:equivalentTo", source="EFO:0007170"}
xref: GARD:16924 {source="MONDO:GARD"}
xref: ICD10CM:J67.2 {source="MONDO:equivalentTo", source="DOID:13891", source="Orphanet:99908/ntbt", source="Orphanet:99908"}
xref: icd11.foundation:912113736 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99908"}
xref: ICD9:495.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13891"}
xref: MedDRA:10004941 {source="Orphanet:99908/e", source="Orphanet:99908"}
xref: MEDGEN:586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001716 {source="Orphanet:99908/e", source="MONDO:equivalentTo", source="EFO:0007170", source="DOID:13891", source="Orphanet:99908"}
xref: NCIT:C34425 {source="MONDO:equivalentTo", source="DOID:13891"}
xref: Orphanet:99908 {source="MONDO:equivalentTo"}
xref: SCTID:195987000 {source="DOID:13891"}
xref: SCTID:69339004 {source="MONDO:equivalentTo", source="DOID:13891"}
xref: UMLS:C0005592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:586"}
is_a: MONDO:0000771 {source="MONDO:indirect"} ! allergic respiratory disease
is_a: MONDO:0017853 {source="DOID:13891", source="MESH:D001716", source="NCIT:C34425"} ! hypersensitivity pneumonitis
is_a: MONDO:0100366 {source="https://orcid.org/0000-0001-5208-3432"} ! occupational disorder
relationship: disease_has_feature HP:0002094 ! Dyspnea
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020028"} ! rare

[Term]
id: MONDO:0005669
name: black piedra
def: "A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
xref: DOID:12711 {source="EFO:0007171", source="MONDO:equivalentTo"}
xref: ICD10CM:B36.3 {source="DOID:12711", source="MONDO:equivalentTo"}
xref: ICD9:111.3 {source="DOID:12711", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:452132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010854 {source="DOID:12711", source="EFO:0007171"}
xref: SCTID:154408001 {source="DOID:12711"}
xref: SCTID:266218008 {source="DOID:12711"}
xref: SCTID:33666009 {source="DOID:12711", source="MONDO:equivalentTo"}
xref: SCTID:402135006 {source="DOID:12711"}
xref: UMLS:C0153249 {source="MEDGEN:452132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000253 {source="DOID:12711"} ! piedra
intersection_of: MONDO:0024268 ! superficial mycosis
intersection_of: disease_has_infectious_agent NCBITaxon:147573 ! Piedraia hortae

[Term]
id: MONDO:0005670
name: blackwater fever
def: "A complication of malaria resulting from hemolysis." [NCIT:C34426]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Black water fever" EXACT [DOID:14068]
synonym: "blackwater fever" EXACT [DOID:14068, ICD9CM:084.8, NCIT:C34426]
synonym: "hemoglobinuric, malaria" EXACT [DOID:14068]
synonym: "malarial hemoglobinuria" EXACT [DOID:14068, NCIT:C34426]
xref: DOID:14068 {source="MONDO:equivalentTo", source="EFO:0007172"}
xref: EFO:0007172 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:084.8 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14068"}
xref: MEDGEN:2277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001742 {source="MONDO:equivalentTo", source="EFO:0007172", source="DOID:14068"}
xref: NCIT:C34426 {source="MONDO:equivalentTo", source="DOID:14068"}
xref: SCTID:56625005 {source="MONDO:equivalentTo", source="DOID:14068"}
xref: UMLS:C0005681 {source="MEDGEN:2277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005136 {source="DOID:14068", source="EFO:0007172", source="MESH:D001742/inferred", source="NCIT:C34426"} ! malaria

[Term]
id: MONDO:0005671
name: Blastocystis infectious disease
def: "Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue." [MESH:D016776]
subset: otar {source="MONDO:OTAR"}
synonym: "Blastocystis infection" EXACT [MESH:D016776, MONDO:patterns/infectious_disease_by_agent]
synonym: "infection, Blastocystis" RELATED [MESH:D016776]
synonym: "infections, Blastocystis" RELATED [MESH:D016776, MONDO:patterns/infectious_disease_by_agent]
xref: DOID:11897 {source="EFO:0007173", source="MONDO:obsolete"}
xref: EFO:0007173 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D016776 {source="MONDO:equivalentTo", source="EFO:0007173"}
xref: SCTID:721809007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="EFO:0007173", source="MESH:D016776/inferred", source="MONDO:Redundant"} ! parasitic infectious disease
is_a: MONDO:0005644 {source="MESH:D016776"} ! amebiasis
is_a: MONDO:0024270 {source="MESH:D016776"} ! parasitic intestinal disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:12967 ! Blastocystis

[Term]
id: MONDO:0005672
name: blastomycosis
def: "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." [https://rarediseases.info.nih.gov/diseases/5931/blastomycosis]
subset: otar {source="MONDO:OTAR"}
synonym: "Blastomyces dermatitidis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Blastomyces dermatitidis disease or disorder" EXACT []
synonym: "Blastomyces dermatitidis infection" EXACT [DOID:12663, NCIT:C34429]
synonym: "Blastomyces dermatitidis infectious disease" EXACT []
synonym: "blastomycotic infection" EXACT [DOID:12663, ICD9CM:116]
synonym: "Chicago disease" EXACT [DOID:12663]
synonym: "Gilchrist's disease" EXACT [DOID:12663]
synonym: "infection by Blastomyces dermatitidis" EXACT [DOID:12663]
synonym: "North American blastomycosis" EXACT [DOID:12663, MTH:NOCODE]
xref: CSP:1988-4119 {source="DOID:12663"}
xref: DOID:12663 {source="MONDO:equivalentTo", source="EFO:0007174"}
xref: EFO:0007174 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B40 {source="MONDO:equivalentTo", source="DOID:12663"}
xref: ICD10CM:B40.9 {source="DOID:12663"}
xref: ICD9:116 {source="DOID:12663"}
xref: ICD9:116.0 {source="DOID:12663"}
xref: MEDGEN:597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001759 {source="MONDO:equivalentTo", source="EFO:0007174", source="DOID:12663"}
xref: NCIT:C34428 {source="MONDO:equivalentTo", source="DOID:12663"}
xref: NCIT:C34429 {source="MONDO:equivalentTo", source="DOID:12663"}
xref: SCTID:10673008 {source="DOID:12663"}
xref: SCTID:154402000 {source="DOID:12663"}
xref: SCTID:187064007 {source="DOID:12663"}
xref: SCTID:187071002 {source="DOID:12663"}
xref: SCTID:187075006 {source="DOID:12663"}
xref: SCTID:187484004 {source="DOID:12663"}
xref: SCTID:191950004 {source="MONDO:equivalentTo", source="DOID:12663"}
xref: SCTID:266217003 {source="DOID:12663"}
xref: SCTID:69996000 {source="DOID:12663"}
xref: UMLS:C0005716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:597"}
is_a: MONDO:0000308 {source="DOID:12663"} ! primary systemic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5039 ! Blastomyces dermatitidis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5931/blastomycosis" xsd:anyURI {source="GARD:0005931"}

[Term]
id: MONDO:0005673
name: blind loop syndrome
def: "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bacterial overgrowth syndrome" EXACT [DOID:10606]
synonym: "blind loop syndrome" EXACT [DOID:10606, ICD9CM:579.2]
synonym: "stasis (blind loop) syndrome" EXACT [NCIT:C34431]
synonym: "stasis syndrome" EXACT [NCIT:C34431]
xref: DOID:10606 {source="MONDO:equivalentTo", source="EFO:0007175"}
xref: EFO:0007175 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K90.2 {source="DOID:10606"}
xref: ICD9:579.2 {source="DOID:10606"}
xref: MEDGEN:600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001765 {source="MONDO:equivalentTo", source="DOID:10606", source="EFO:0007175"}
xref: NCIT:C34431 {source="MONDO:equivalentTo", source="DOID:10606"}
xref: SCTID:66379009 {source="MONDO:equivalentTo", source="DOID:10606"}
xref: SCTID:77225009 {source="DOID:10606"}
xref: UMLS:C0005750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:600"}
is_a: MONDO:0005020 {source="DOID:10606", source="EFO:0007175", source="MESH:D001765/inferred", source="NCIT:C34431/inferred"} ! intestinal disorder
is_a: MONDO:0020598 ! malabsorption syndrome

[Term]
id: MONDO:0005674
name: bone giant cell tumor
alt_id: MONDO:0018219
def: "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." [NCIT:C121932]
subset: gard_rare {source="GARD:13046", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363976"}
subset: orphanet_rare {source="Orphanet:363976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign bone giant cell tumor" EXACT [NCIT:C121932]
synonym: "benign bone giant cell tumour" EXACT OMO:0003005 []
synonym: "GCT of bone" EXACT [Orphanet:363976]
synonym: "giant cell myeloma" RELATED [DOID:4305]
synonym: "giant cell neoplasm of bone" EXACT [DOID:4305, NCIT:C3738]
synonym: "giant cell tumor of bone" EXACT [MONDO:ambiguous]
synonym: "giant cell tumor of bone (morphologic abnormality)" EXACT [DOID:4305]
synonym: "giant cell tumor of bone NOS (morphologic abnormality)" EXACT [DOID:4305]
synonym: "giant cell tumor of the bone" EXACT [NCIT:C121932]
synonym: "giant cell tumor, benign" EXACT [NCIT:C121932]
synonym: "giant cell tumour of bone" EXACT OMO:0003005 []
synonym: "giant cell tumour of bone (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "giant cell tumour of bone NOS (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "giant cell tumour of the bone" EXACT OMO:0003005 []
synonym: "osteoclastoma" RELATED [DOID:4305]
synonym: "Osteoclastoma, benign" EXACT [NCIT:C121932]
xref: DOID:4305 {source="MONDO:equivalentTo", source="EFO:0007176"}
xref: EFO:0007176 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13046 {source="MONDO:GARD"}
xref: HP:0011847 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D48.0 {source="Orphanet:363976/ntbt", source="Orphanet:363976"}
xref: MEDGEN:64624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018212 {source="DOID:4305", source="MONDO:equivalentTo", source="EFO:0007176"}
xref: NCIT:C121932 {source="DOID:4305", source="MONDO:equivalentTo"}
xref: ONCOTREE:GCTB {source="MONDO:equivalentTo"}
xref: Orphanet:363976 {source="MONDO:equivalentTo"}
xref: SCTID:189891002 {source="DOID:4305"}
xref: SCTID:57500000 {source="DOID:4305"}
xref: SCTID:697970009 {source="DOID:4305", source="MONDO:equivalentTo"}
xref: UMLS:C0206638 {source="MEDGEN:64624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="EFO:0007176", source="MONDO:indirect"} ! sarcoma
is_a: MONDO:0021054 {source="Orphanet:363976"} ! bone sarcoma

[Term]
id: MONDO:0005675
name: border disease
def: "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." [MESH:D001882]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4804 {source="MONDO:obsolete", source="EFO:0007177"}
xref: EFO:0007177 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D001882 {source="MONDO:equivalentTo", source="EFO:0007177"}
is_a: MONDO:0005583 {source="EFO:0007177", source="MESH:D001882/inferred"} ! non-human animal disease
is_a: MONDO:0024985 ! sheep disease
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0005676
name: borna disease
def: "An encephalomyelitis of horses, sheep and cattle caused by borna disease virus." [MESH:D001890]
comment: This disease is considered zoonotic, i.e. able to be transmitted between human and non-human animals (PMID:34376142). In Mondo, we distinguish between human and non-human animal diseases, and we currently do not have a general term to represent a species-agnostic version of the disease. This record is for the non-human version of “borna disease”.
subset: otar {source="MONDO:OTAR"}
synonym: "enzootic encephalomyelitis" RELATED [DOID:5154]
xref: DOID:5154 {source="MONDO:relatedTo", source="EFO:0007178"}
xref: EFO:0007178 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D001890 {source="MONDO:relatedTo", source="DOID:5154", source="EFO:0007178"}
xref: SCTID:76851008 {source="DOID:5154"}
is_a: MONDO:0700053 {source="DOID:5154", source="MESH:D001890/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! viral infectious disease, non-human animal
is_a: MONDO:1011336 {source="EFO:0007178"} ! nervous system disorder, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0100332 NCBITaxon:12455 ! disease has primary infectious agent Borna disease virus
relationship: MONDO:0700097 MONDO:0957421 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog borna virus encephalitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6842" xsd:string
property_value: RO:0002175 NCBITaxon:9788 {source="MESH:D001890"}
property_value: RO:0002175 NCBITaxon:9903 {source="MESH:D001890"}
property_value: RO:0002175 NCBITaxon:9940 {source="MESH:D001890"}

[Term]
id: MONDO:0005677
name: Rickettsia conorii infectious disease
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0007179 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0001195 ! spotted fever
intersection_of: MONDO:0005550 {source="MONDO:Wikidata"} ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:781 {source="MONDO:Wikidata"} ! Rickettsia conorii
relationship: disease_has_infectious_agent NCBITaxon:781 {source="MONDO:Wikidata"} ! Rickettsia conorii

[Term]
id: MONDO:0005678
name: bovine respiratory disease complex
def: "A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents." [MESH:D048090]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3732 {source="EFO:0007180", source="MONDO:obsolete"}
xref: EFO:0007180 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D048090 {source="EFO:0007180", source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D048090"} ! cattle disease
is_a: MONDO:0700104 ! respiratory system disorder, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus

[Term]
id: MONDO:0005679
name: bovine virus diarrhea-mucosal disease
def: "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." [MESH:D001912]
synonym: "bovine hemorrhagic syndrome" EXACT [MESH:D030243]
synonym: "hemorrhagic syndrome, bovine" EXACT [MONDO:0025155]
xref: DOID:5115 {source="MONDO:equivalentObsolete", source="EFO:0007181"}
xref: MESH:D001912 {source="MONDO:equivalentTo", source="EFO:0007181", source="MONDO:preferredExternal"}
xref: MESH:D030243 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007181", source="MESH:D001912/inferred"} ! non-human animal disease
is_a: MONDO:0024913 {source="MESH:D030243"} ! cattle disease
is_a: MONDO:0700203 {source="MESH:D030243"} ! pestivirus infectious disease, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5294" xsd:anyURI

[Term]
id: MONDO:0005680
name: Brill-Zinsser disease
def: "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." [Wikipedia:Brill%E2%80%93Zinsser_disease]
subset: gard_rare {source="GARD:19725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99990"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brill disease" EXACT [Orphanet:99990]
synonym: "Brill Zinsser disease" EXACT [DOID:11254]
synonym: "Brill's disease" EXACT [DOID:11254, ICD9CM:081.1]
synonym: "latent typhus" RELATED [DOID:11254]
synonym: "recrudescent typhus" EXACT [DOID:11254, Orphanet:99990]
synonym: "sporadic typhus" RELATED [DOID:11254]
xref: DOID:11254 {source="EFO:0007182", source="MONDO:equivalentTo"}
xref: EFO:0007182 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19725 {source="MONDO:GARD"}
xref: ICD10CM:A75.1 {source="Orphanet:99990/e", source="DOID:11254", source="Orphanet:99990"}
xref: icd11.foundation:1961511435 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99990"}
xref: ICD9:081.1 {source="DOID:11254"}
xref: MEDGEN:2730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014438 {source="EFO:0007182", source="DOID:11254"}
xref: Orphanet:99990 {source="MONDO:equivalentTo"}
xref: SCTID:47761007 {source="MONDO:equivalentTo", source="DOID:11254"}
xref: UMLS:C0006181 {source="MEDGEN:2730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019362 {source="DOID:11254", source="Orphanet:99990"} ! epidemic louse-borne typhus
relationship: excluded_subClassOf MONDO:0005619 {source="EFO:0007182", source="https://github.com/EBISPOT/efo/issues/171", source="https://orcid.org/0000-0001-5208-3432"} ! typhoid fever

[Term]
id: MONDO:0005681
name: obsolete MONDO:0005681
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015265

[Term]
id: MONDO:0005682
name: bronchopneumonia
def: "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bronchial pneumonia" EXACT [DOID:12375]
synonym: "chest infection - bronchopneumonia" EXACT [DOID:12375]
synonym: "chest infection - unspecified bronchopneumonia" EXACT [DOID:12375]
synonym: "lobular pneumonia" EXACT [DOID:12375]
xref: DOID:12375 {source="MONDO:equivalentTo", source="EFO:0007184"}
xref: EFO:0007184 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J18.0 {source="DOID:12375"}
xref: ICD9:485 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12375"}
xref: MEDGEN:2737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001996 {source="MONDO:equivalentTo", source="EFO:0007184", source="DOID:12375"}
xref: NCIT:C26710 {source="MONDO:equivalentTo", source="DOID:12375"}
xref: SCTID:155551009 {source="DOID:12375"}
xref: SCTID:195914001 {source="DOID:12375"}
xref: SCTID:266352008 {source="DOID:12375"}
xref: SCTID:396285007 {source="MONDO:equivalentTo", source="DOID:12375"}
xref: SCTID:67814005 {source="DOID:12375"}
xref: UMLS:C0006285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2737"}
is_a: MONDO:0005249 {source="DOID:12375", source="EFO:0007184", source="MESH:D001996", source="NCIT:C26710"} ! pneumonia
relationship: disease_has_feature HP:0002090 ! Pneumonia

[Term]
id: MONDO:0005683
name: brucellosis
def: "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases." [https://rarediseases.info.nih.gov/diseases/5966/brucellosis]
subset: gard_rare {source="GARD:5966", source="MONDO:GARD"}
subset: nord_rare {source="NORD:877", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1304"}
subset: orphanet_rare {source="Orphanet:1304"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bang's disease" RELATED [DOID:11077]
synonym: "Cyprus fever" RELATED [GARD:0005966]
synonym: "Gibraltar fever" RELATED [DOID:11077]
synonym: "Malta fever" RELATED [DOID:11077]
synonym: "Maltese fever" EXACT [DOID:11077]
synonym: "Mediterranean fever" RELATED [DOID:11077]
synonym: "Rock fever" RELATED [GARD:0005966]
synonym: "undulant fever" EXACT [DOID:11077]
xref: DOID:11077 {source="MONDO:equivalentTo", source="EFO:0007185"}
xref: EFO:0007185 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5966 {source="MONDO:GARD"}
xref: ICD10CM:A23 {source="MONDO:equivalentTo", source="DOID:11077"}
xref: ICD10CM:A23.0 {source="Orphanet:1304", source="Orphanet:1304/btnt"}
xref: ICD10CM:A23.1 {source="Orphanet:1304", source="Orphanet:1304/btnt"}
xref: ICD10CM:A23.2 {source="Orphanet:1304", source="Orphanet:1304/btnt"}
xref: ICD10CM:A23.3 {source="Orphanet:1304", source="Orphanet:1304/btnt"}
xref: ICD10CM:A23.8 {source="Orphanet:1304", source="Orphanet:1304/btnt"}
xref: ICD10CM:A23.9 {source="Orphanet:1304", source="DOID:11077", source="Orphanet:1304/btnt"}
xref: icd11.foundation:730510331 {source="MONDO:equivalentTo", source="Orphanet:1304"}
xref: ICD9:023 {source="DOID:11077"}
xref: ICD9:023.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11077"}
xref: MedDRA:10006500 {source="Orphanet:1304", source="Orphanet:1304/e"}
xref: MEDGEN:674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002006 {source="MONDO:equivalentTo", source="Orphanet:1304", source="DOID:11077", source="EFO:0007185", source="Orphanet:1304/e"}
xref: NCIT:C84602 {source="MONDO:equivalentTo", source="DOID:11077"}
xref: NORD:877 {source="MONDO:NORD"}
xref: Orphanet:1304 {source="MONDO:equivalentTo"}
xref: SCTID:111804008 {source="DOID:11077"}
xref: SCTID:154296006 {source="DOID:11077"}
xref: SCTID:186310006 {source="DOID:11077"}
xref: SCTID:187304000 {source="DOID:11077"}
xref: SCTID:75702008 {source="MONDO:equivalentTo", source="DOID:11077"}
xref: UMLS:C0006309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:674"}
is_a: MONDO:0000314 {source="DOID:11077"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11077/inferred", source="EFO:0007185", source="MESH:D002006/inferred", source="MONDO:Redundant", source="NCIT:C84602", source="Orphanet:1304"} ! bacterial infectious disease
relationship: disease_has_infectious_agent NCBITaxon:234 {source="MONDO:Wikidata"} ! Brucella
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5966/brucellosis" xsd:anyURI {source="GARD:0005966"}

[Term]
id: MONDO:0005684
name: bulbar polio
def: "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)" [MESH:D011052]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bulbar polio" EXACT [MESH:D011052]
synonym: "bulbar poliomyelitis" EXACT [DOID:9786, MESH:D011052]
synonym: "medullary involvement poliomyelitis" RELATED [MESH:D011052]
synonym: "polio, bulbar" RELATED [MESH:D011052]
synonym: "poliomyelitis, medullary involvement" RELATED [MESH:D011052]
xref: DOID:9786 {source="MONDO:equivalentTo", source="EFO:0007186"}
xref: ICD9:045.0 {source="DOID:9786"}
xref: MEDGEN:45982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011052 {source="MONDO:equivalentTo", source="EFO:0007186", source="DOID:9786"}
xref: SCTID:186475007 {source="DOID:9786"}
xref: SCTID:398327006 {source="DOID:9786"}
xref: SCTID:54839009 {source="DOID:9786"}
xref: SCTID:64764001 {source="DOID:9786"}
xref: UMLS:C0032372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45982"}
is_a: MONDO:0000341 {source="DOID:9786"} ! paralytic poliomyelitis
relationship: disease_has_infectious_agent NCBITaxon:12080 ! Poliovirus 1
relationship: disease_has_infectious_agent NCBITaxon:12083 ! Poliovirus 2
relationship: disease_has_infectious_agent NCBITaxon:12086 ! Poliovirus 3
relationship: disease_has_location CL:0000100 {source="EFO:0000784"} ! motor neuron
relationship: disease_has_location UBERON:0001896 ! medulla oblongata

[Term]
id: MONDO:0005685
name: obsolete bullous pemphigoid
is_obsolete: true
replaced_by: MONDO:0019082

[Term]
id: MONDO:0005686
name: obsolete Bunyaviridae infectious disease
is_obsolete: true
replaced_by: MONDO:0021641

[Term]
id: MONDO:0005687
name: Caliciviridae infectious disease
def: "Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans." [MESH:D017250]
subset: otar {source="MONDO:OTAR"}
synonym: "Caliciviridae infection" RELATED [MESH:D017250]
synonym: "Calicivirus infection" RELATED [MESH:D017250]
synonym: "Calicivirus infections" RELATED [MESH:D017250]
synonym: "infection, Caliciviridae" RELATED [MESH:D017250]
synonym: "infection, Calicivirus" RELATED [MESH:D017250]
synonym: "infections, Caliciviridae" RELATED [MESH:D017250]
synonym: "infections, Calicivirus" RELATED [MESH:D017250]
xref: DOID:4091 {source="MONDO:obsolete", source="EFO:0007189"}
xref: EFO:0007189 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D017250 {source="MONDO:equivalentTo", source="EFO:0007189"}
is_a: MONDO:0005108 {source="EFO:0007189", source="MESH:D017250/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11974 ! disease has primary infectious agent Caliciviridae

[Term]
id: MONDO:0005688
name: campylobacteriosis
def: "Infections with bacteria of the genus campylobacter." [MESH:D002169]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13622 {source="EFO:0007190", source="MONDO:equivalentTo"}
xref: EFO:0007190 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:14296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002169 {source="EFO:0007190", source="MONDO:equivalentTo", source="DOID:13622"}
xref: SCTID:86500004 {source="MONDO:equivalentTo", source="DOID:13622"}
xref: UMLS:C0006818 {source="MEDGEN:14296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:13622"} ! primary bacterial infectious disease
is_a: MONDO:0002269 {source="https://orcid.org/0000-0002-5316-1399"} ! gastroenteritis
is_a: MONDO:0005113 {source="DOID:13622/inferred", source="EFO:0007190", source="MESH:D002169/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:194 ! Campylobacter
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery

[Term]
id: MONDO:0005689
name: cannabis dependence
def: "Physical and psychological dependence on the drug cannabis." [NCIT:C34445]
subset: otar {source="MONDO:OTAR"}
synonym: "cannabis abuse" EXACT [MONDO:0004809]
synonym: "marijuana abuse" EXACT [DOID:9505]
synonym: "marijuana dependence" EXACT [MONDO:0005353]
xref: DOID:1849 {source="EFO:0007191", source="MONDO:equivalentTo", source="EFO:0004218", source="MONDO:preferredExternal"}
xref: DOID:9505 {source="MONDO:equivalentTo", source="EFO:0004218"}
xref: EFO:0007191 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F12 {source="DOID:9505"}
xref: ICD10CM:F12.1 {source="DOID:9505"}
xref: ICD10CM:F12.2 {source="DOID:1849"}
xref: ICD9:304.3 {source="EFO:0004218", source="DOID:1849"}
xref: ICD9:304.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:305.2 {source="DOID:9505", source="EFO:0004218"}
xref: MEDGEN:14303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002189 {source="EFO:0007191", source="DOID:9505", source="MONDO:equivalentTo", source="DOID:1849"}
xref: NCIT:C34445 {source="MONDO:equivalentTo", source="EFO:0004218", source="DOID:1849"}
xref: SCTID:191835009 {source="DOID:1849"}
xref: SCTID:191836005 {source="DOID:1849"}
xref: SCTID:268766005 {source="DOID:1849"}
xref: SCTID:268769003 {source="DOID:9505"}
xref: SCTID:37344009 {source="DOID:9505", source="MONDO:equivalentTo", source="EFO:0004218"}
xref: SCTID:85005007 {source="MONDO:equivalentTo", source="EFO:0004218", source="MONDO:preferredExternal", source="DOID:1849"}
xref: UMLS:C0006870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14303"}
is_a: MONDO:0005303 {source="DOID:1849/inferred", source="EFO:0004218", source="EFO:0004218/inferred", source="EFO:0007191", source="MONDO:Redundant", source="NCIT:C34445"} ! drug dependence
relationship: excluded_subClassOf MONDO:0002491 {source="DOID:9505", source="https://orcid.org/0000-0001-5208-3432"} ! substance abuse
relationship: excluded_subClassOf MONDO:0004939 {source="DOID:1849", source="https://orcid.org/0000-0001-5208-3432"} ! hallucinogen dependence

[Term]
id: MONDO:0005690
name: Caplan syndrome
def: "A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray." [Wikipedia:Caplan%27s_syndrome]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Caplan syndrome" EXACT [DOID:10326]
synonym: "Caplan's disease" EXACT [DOID:10326]
synonym: "Caplan's syndrome" RELATED [DOID:10326]
synonym: "Caplans syndrome" EXACT [DOID:10326]
synonym: "rheumatoid pneumoconiosis" EXACT [DOID:10326]
xref: DOID:10326 {source="MONDO:equivalentTo", source="EFO:0007192"}
xref: EFO:0007192 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002205 {source="DOID:10326", source="MONDO:equivalentTo", source="EFO:0007192"}
xref: SCTID:111280008 {source="DOID:10326"}
xref: SCTID:201813004 {source="DOID:10326"}
xref: SCTID:398640008 {source="DOID:10326", source="MONDO:equivalentTo"}
xref: UMLS:C0006915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743"}
is_a: MONDO:0015926 {source="DOID:10326", source="EFO:0007192", source="MESH:D002205"} ! pneumoconiosis
relationship: disease_has_feature HP:0001370 ! Rheumatoid arthritis

[Term]
id: MONDO:0005691
name: cardiovirus infectious disease
def: "Infections caused by viruses of the genus cardiovirus, family picornaviridae." [MESH:D018188]
subset: otar {source="MONDO:OTAR"}
synonym: "Cardiovirus infection" RELATED [MESH:D018188]
synonym: "infection, Cardiovirus" RELATED [MESH:D018188]
synonym: "infections, Cardiovirus" RELATED [MESH:D018188]
xref: DOID:3667 {source="EFO:0007194", source="MONDO:obsolete"}
xref: EFO:0007194 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:60193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018188 {source="MONDO:equivalentTo", source="EFO:0007194"}
xref: UMLS:C0206617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60193"}
is_a: MONDO:0005108 {source="EFO:0007194", source="MESH:D018188/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12103 ! disease has primary infectious agent Cardiovirus

[Term]
id: MONDO:0005692
name: cat-scratch disease
def: "Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery." [https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease]
subset: gard_rare {source="GARD:27", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50839"}
subset: orphanet_rare {source="Orphanet:50839"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bartonellosis due to Bartonella henselae infection" EXACT [Orphanet:50839]
synonym: "benign lymphoreticulosis" EXACT [DOID:11258]
synonym: "Cat scratch disease" RELATED [GARD:0000027]
synonym: "cat scratch fever" EXACT [DOID:11258]
synonym: "Cat-scratch fever" EXACT [NCIT:C84620]
synonym: "debre's syndrome" EXACT [DOID:11258]
synonym: "debre-Mollaret syndrome" EXACT [DOID:11258]
synonym: "Foshay-Mollaret Cat scratch fever" EXACT [DOID:11258]
xref: DOID:11258 {source="MONDO:equivalentTo", source="EFO:0007195"}
xref: EFO:0007195 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:27 {source="MONDO:GARD"}
xref: ICD10CM:A28.1 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="Orphanet:50839"}
xref: icd11.foundation:2003001085 {source="MONDO:equivalentTo", source="Orphanet:50839"}
xref: ICD9:078.3 {source="DOID:11258", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10007729 {source="Orphanet:50839/e", source="Orphanet:50839"}
xref: MEDGEN:2861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002372 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="EFO:0007195", source="Orphanet:50839"}
xref: NCIT:C84620 {source="DOID:11258", source="MONDO:equivalentTo"}
xref: Orphanet:50839 {source="MONDO:equivalentTo"}
xref: SCTID:123319006 {source="DOID:11258"}
xref: SCTID:154370006 {source="DOID:11258"}
xref: SCTID:266202002 {source="DOID:11258"}
xref: SCTID:79974007 {source="DOID:11258", source="MONDO:equivalentTo"}
xref: UMLS:C0007361 {source="MONDO:equivalentTo", source="MEDGEN:2861", source="MONDO:MEDGEN"}
is_a: MONDO:0002052 {source="MESH:D002372"} ! lymphadenitis
is_a: MONDO:0005113 {source="DOID:11258/inferred", source="EFO:0007195", source="MESH:D002372/inferred", source="MONDO:Redundant", source="NCIT:C84620", source="Orphanet:50839"} ! bacterial infectious disease
is_a: MONDO:0005664 {source="DOID:11258", source="MESH:D002372", source="MONDO:Redundant"} ! bartonellosis
is_a: MONDO:0021678 {source="MESH:D002372", source="MESH:D002372/inferred", source="MONDO:Redundant"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:38323 ! Bartonella henselae
relationship: disease_has_infectious_agent NCBITaxon:38323 {source="MONDO:Wikidata"} ! Bartonella henselae
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease" xsd:anyURI {source="GARD:0000027"}

[Term]
id: MONDO:0005693
name: cauda equina syndrome
def: "Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery." [https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome]
subset: otar {source="MONDO:OTAR"}
synonym: "cauda equina syndromic disease" EXACT [MONDO:patterns/location]
synonym: "syndromic disease of cauda equina" EXACT [MONDO:design_pattern]
xref: DOID:11577 {source="MONDO:equivalentTo", source="EFO:0007196"}
xref: EFO:0007196 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G83.4 {source="DOID:11577", source="MONDO:equivalentTo"}
xref: ICD9:344.6 {source="DOID:11577"}
xref: MEDGEN:98229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000077684 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: MESH:D011128 {source="DOID:11577", source="MONDO:relatedTo", source="EFO:0007196"}
xref: NCIT:C35436 {source="DOID:11577", source="MONDO:equivalentTo"}
xref: SCTID:155032006 {source="DOID:11577"}
xref: SCTID:192970008 {source="DOID:11577", source="MONDO:equivalentTo"}
xref: SCTID:192972000 {source="DOID:11577"}
xref: SCTID:192973005 {source="DOID:11577"}
xref: SCTID:89356000 {source="DOID:11577"}
xref: UMLS:C0392548 {source="MEDGEN:98229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:11577", source="MONDO:Redundant", source="NCIT:C35436"} ! syndromic disease
is_a: MONDO:0003620 {source="DOID:11577", source="NCIT:C35436/inferred"} ! peripheral nervous system disorder
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_location UBERON:0012337 ! cauda equina
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome" xsd:anyURI {source="GARD:0010987"}

[Term]
id: MONDO:0005694
name: cecal neoplasm
def: "A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "caecum neoplasm" EXACT []
synonym: "caecum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "caecum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "caecum tumour" EXACT OMO:0003005 []
synonym: "cecal benign neoplasm" RELATED [DOID:1517]
synonym: "cecum neoplasm" EXACT [DOID:1517, NCIT:C4433]
synonym: "cecum tumor" EXACT [NCIT:C4433]
synonym: "cecum tumour" EXACT OMO:0003005 []
synonym: "neoplasm of caecum" EXACT [DOID:1517, MONDO:patterns/neoplasm]
synonym: "neoplasm of cecum" EXACT [NCIT:C4433]
synonym: "neoplasm of the cecum" EXACT [NCIT:C4433]
synonym: "tumor of caecum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of cecum" EXACT [NCIT:C4433]
synonym: "tumor of the cecum" EXACT [NCIT:C4433]
synonym: "tumour of caecum" EXACT OMO:0003005 []
synonym: "tumour of cecum" EXACT OMO:0003005 []
synonym: "tumour of the cecum" EXACT OMO:0003005 []
xref: DOID:1517 {source="MONDO:equivalentTo", source="EFO:0007197"}
xref: EFO:0009255 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:2922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002430 {source="MONDO:equivalentTo", source="EFO:0007197", source="DOID:1517"}
xref: NCIT:C4433 {source="MONDO:equivalentTo", source="DOID:1517"}
xref: SCTID:126839008 {source="MONDO:equivalentTo", source="DOID:1517"}
xref: UMLS:C0007528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2922"}
is_a: MONDO:0002031 {source="MESH:D002430", source="MONDO:Redundant"} ! cecal disorder
is_a: MONDO:0005401 {source="EFO:0007197/inferred", source="MONDO:Redundant", source="NCIT:C4433"} ! colonic neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0005695
name: central nervous system AIDS arteritis
def: "Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections." [MESH:D020943]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AIDS associated cerebral aneurysmal arteriopathy" EXACT [MESH:D020943]
synonym: "AIDS-associated cerebral aneurysmal arteriopathy" EXACT [MESH:D020943]
synonym: "central nervous system AIDS arteritis" EXACT [MESH:D020943]
synonym: "cerebral aneurysmal arteriopathy, AIDS associated" EXACT [MESH:D020943]
synonym: "cerebral aneurysmal arteriopathy, AIDS-associated" EXACT [MESH:D020943]
synonym: "CNS Vasculitides, HIV-1-associated" EXACT [MESH:D020943]
synonym: "CNS Vasculitides, HIV-associated" EXACT [MESH:D020943]
synonym: "CNS vasculitis, HIV associated" EXACT [MESH:D020943]
synonym: "CNS vasculitis, HIV-1-associated" EXACT [MESH:D020943]
synonym: "CNS vasculitis, HIV-associated" EXACT [MESH:D020943]
synonym: "HIV 1 associated CNS vasculitis" EXACT [MESH:D020943]
synonym: "HIV associated vasculitis of the central nervous system" EXACT [MESH:D020943]
synonym: "HIV-1-associated CNS Vasculitides" EXACT [MESH:D020943]
synonym: "HIV-1-associated CNS vasculitis" EXACT [MESH:D020943]
synonym: "HIV-associated CNS Vasculitides" EXACT [MESH:D020943]
synonym: "HIV-associated CNS vasculitis" EXACT [MESH:D020943]
synonym: "HIV-associated vasculitis of the central nervous system" EXACT [MESH:D020943]
synonym: "Vasculitides, HIV-1-associated CNS" EXACT [MESH:D020943]
synonym: "Vasculitides, HIV-associated CNS" EXACT [MESH:D020943]
synonym: "vasculitis of the central nervous system, HIV associated" EXACT [MESH:D020943]
synonym: "vasculitis of the central nervous system, HIV-associated" EXACT [MESH:D020943]
synonym: "vasculitis, HIV-1-associated CNS" EXACT [MESH:D020943]
synonym: "vasculitis, HIV-associated CNS" EXACT [MESH:D020943]
xref: DOID:524 {source="MONDO:obsolete", source="EFO:0007198"}
xref: MEDGEN:156263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020943 {source="MONDO:equivalentTo", source="EFO:0007198"}
xref: UMLS:C0752330 {source="MEDGEN:156263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003346 {source="MESH:D020943"} ! central nervous system vasculitis
is_a: MONDO:0005109 {source="EFO:0007198", source="MESH:D020943"} ! HIV infectious disease

[Term]
id: MONDO:0005696
name: central nervous system tuberculosis
def: "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals." [MESH:D016862]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641396"}
subset: orphanet_rare {source="Orphanet:641396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system tuberculosis" EXACT [MONDO:patterns/location]
synonym: "intracranial tuberculoma" EXACT [DOID:1638]
synonym: "tuberculoma of brain" EXACT [DOID:1638]
synonym: "tuberculosis of meninges and central nervous system" EXACT [DOID:1638]
synonym: "tuberculous abscess of brain" EXACT [DOID:1638]
xref: DOID:1638 {source="MONDO:equivalentTo", source="EFO:0007199"}
xref: EFO:0007199 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: icd11.foundation:729372485 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:641396"}
xref: ICD9:013.2 {source="DOID:1638"}
xref: ICD9:013.20 {source="DOID:1638"}
xref: ICD9:013.35 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016862 {source="DOID:1638", source="EFO:0007199"}
xref: Orphanet:641396 {source="MONDO:equivalentTo"}
xref: SCTID:186217006 {source="MONDO:equivalentTo"}
xref: SCTID:40769007 {source="DOID:1638"}
xref: SCTID:416265003 {source="DOID:1638"}
xref: UMLS:C0275904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82907"}
is_a: MONDO:0000368 {source="DOID:1638", source="MONDO:Redundant"} ! extrapulmonary tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0005697
name: cerebral toxoplasmosis
def: "Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)" [MESH:D016781]
subset: otar {source="MONDO:OTAR"}
synonym: "encephalitis due to acquired toxoplasmosis" RELATED [DOID:10551]
synonym: "meningoencephalitis due to toxoplasmosis" RELATED [DOID:10551]
synonym: "Toxoplasma encephalitis" EXACT [DOID:10551]
xref: DOID:10551 {source="MONDO:equivalentObsolete", source="EFO:0007200"}
xref: EFO:0007200 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:130.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:38846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016781 {source="MONDO:equivalentTo", source="EFO:0007200"}
xref: SCTID:192701001 {source="MONDO:equivalentTo"}
xref: UMLS:C0085315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38846"}
is_a: MONDO:0005989 {source="https://orcid.org/0000-0001-5208-3432"} ! toxoplasmosis
relationship: excluded_subClassOf MONDO:0005046 {source="EFO:0007200", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder

[Term]
id: MONDO:0005698
name: cervical incompetence
def: "A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9681 {source="EFO:0007202", source="MONDO:equivalentTo"}
xref: EFO:0007202 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N88.3 {source="DOID:9681"}
xref: ICD9:622.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9681"}
xref: ICD9:654.50 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002581 {source="EFO:0007202", source="MONDO:equivalentTo", source="DOID:9681"}
xref: NCIT:C50607 {source="MONDO:otherHierarchy", source="DOID:9681"}
xref: SCTID:156172008 {source="DOID:9681"}
xref: SCTID:157049000 {source="DOID:9681"}
xref: SCTID:17382005 {source="MONDO:equivalentTo", source="DOID:9681"}
xref: SCTID:199480002 {source="DOID:9681"}
xref: SCTID:199481003 {source="DOID:9681"}
xref: SCTID:199486008 {source="DOID:9681"}
xref: SCTID:36836005 {source="DOID:9681"}
xref: UMLS:C0007871 {source="MEDGEN:2972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002256 {source="DOID:9681", source="MESH:D002581"} ! cervix disorder

[Term]
id: MONDO:0005699
name: cervicofacial actinomycosis
def: "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." [MESH:D000197]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervicofacial actinomycotic infection" RELATED [DOID:12633]
synonym: "lumpy jaw" RELATED [DOID:12633]
xref: DOID:12633 {source="EFO:0007203", source="MONDO:obsolete"}
xref: ICD10CM:A42.2 {source="MONDO:equivalentTo"}
xref: ICD9:039.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000197 {source="EFO:0007203", source="MONDO:equivalentTo"}
xref: NCIT:C34351 {source="MONDO:equivalentTo"}
xref: SCTID:23014006 {source="MONDO:equivalentTo"}
xref: UMLS:C0001264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1308"}
is_a: MONDO:0005631 {source="MESH:D000197", source="NCIT:C34351"} ! actinomycosis

[Term]
id: MONDO:0005700
name: chickenpox
def: "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." [NCIT:C97132]
subset: otar {source="MONDO:OTAR"}
synonym: "chicken pox" EXACT [NCIT:C97132]
synonym: "chicken pox infection" EXACT [NCIT:C97132]
synonym: "chickenpox" EXACT [NCIT:C97132]
synonym: "Varicella" EXACT [NCIT:C97132]
synonym: "varicella" EXACT [DOID:8659]
xref: DOID:8659 {source="EFO:0007204", source="MONDO:equivalentTo"}
xref: EFO:0007204 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B01 {source="DOID:8659"}
xref: ICD10CM:B01.9 {source="DOID:8659"}
xref: ICD9:052 {source="DOID:8659"}
xref: ICD9:052.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002644 {source="EFO:0007204", source="DOID:8659", source="MONDO:equivalentTo"}
xref: NCIT:C97132 {source="DOID:8659", source="MONDO:equivalentTo"}
xref: SCTID:154325003 {source="DOID:8659"}
xref: SCTID:186508005 {source="DOID:8659"}
xref: SCTID:38907003 {source="DOID:8659", source="MONDO:equivalentTo"}
xref: UMLS:C0008049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2995"}
is_a: MONDO:0005093 {source="DOID:8659", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0005608 {source="MONDO:Redundant", source="NCIT:C97132"} ! varicella zoster infection
relationship: disease_has_feature HP:0000988 {source="MONDO:Wikidata"} ! Skin rash
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature HP:0008066 ! Abnormal blistering of the skin
relationship: disease_has_feature MONDO:0006547 {source="MONDO:Wikidata"} ! exanthem
relationship: disease_has_infectious_agent NCBITaxon:10335 {source="NCIT:C97132"} ! Human alphaherpesvirus 3

[Term]
id: MONDO:0005701
name: chlamydia trachomatis infectious disease
def: "An infection that is caused by Chlamydia trachomatis." [NCIT:C34463]
subset: otar {source="MONDO:OTAR"}
synonym: "chlamydia" RELATED [DOID:11263]
synonym: "Chlamydia trachomatis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydia trachomatis disease or disorder" EXACT []
synonym: "Chlamydia trachomatis infectious disease" EXACT [DOID:11263]
synonym: "chlamydia trachomatis infectious disease" EXACT []
synonym: "chlamydial disease" EXACT [DOID:11263]
synonym: "Chlamydial infection" EXACT [DOID:11263, NCIT:C34463]
xref: DOID:11263 {source="EFO:0007205", source="MONDO:equivalentTo"}
xref: EFO:0007205 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:078.88 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:079.88 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:079.98 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D002690 {source="EFO:0007205", source="MONDO:relatedTo"}
xref: NCIT:C34463 {source="MONDO:equivalentTo"}
xref: SCTID:105629000 {source="MONDO:equivalentTo"}
is_a: MONDO:0000315 {source="DOID:11263"} ! commensal bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11263/inferred", source="EFO:0007205", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0005550 {source="DOID:11263/inferred", source="EFO:0007205/inferred", source="MONDO:Redundant", source="NCIT:C34463"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:813 ! Chlamydia trachomatis
relationship: disease_has_infectious_agent NCBITaxon:272561 {source="MONDO:Wikidata"} ! Chlamydia trachomatis D/UW-3/CX

[Term]
id: MONDO:0005702
name: obsolete chromoblastomycosis
def: "OBSOLETE. A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." [EFO:0007207]
is_obsolete: true
replaced_by: MONDO:0015908

[Term]
id: MONDO:0005703
name: obsolete Churg-Strauss syndrome
is_obsolete: true
replaced_by: MONDO:0015943

[Term]
id: MONDO:0005704
name: Ciliophora infectious disease
def: "Infections with protozoa of the phylum ciliophora." [MESH:D016770]
synonym: "Ciliophora caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ciliophora disease or disorder" EXACT []
xref: DOID:2788 {source="EFO:0007209", source="MONDO:obsolete"}
xref: MEDGEN:88379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016770 {source="EFO:0007209", source="MONDO:equivalentTo"}
xref: UMLS:C0085308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88379"}
is_a: MONDO:0005550 {source="EFO:0007209", source="MONDO:Redundant"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5878 ! Ciliophora

[Term]
id: MONDO:0005705
name: clonorchiasis
def: "Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)" [MESH:D003003]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658917"}
subset: orphanet_rare {source="Orphanet:658917"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Oriental liver fluke disease" EXACT [DOID:13767]
xref: DOID:13767 {source="MONDO:equivalentTo", source="EFO:0007210"}
xref: EFO:0007210 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B66.1 {source="DOID:13767", source="MONDO:equivalentTo"}
xref: ICD9:121.1 {source="DOID:13767", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003003 {source="DOID:13767", source="MONDO:equivalentTo", source="EFO:0007210"}
xref: Orphanet:658917 {source="MONDO:equivalentTo"}
xref: SCTID:11938002 {source="DOID:13767", source="MONDO:equivalentTo"}
xref: UMLS:C0009021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3119"}
is_a: MONDO:0004664 {source="DOID:13767", source="ICD10CM:B66.1/inferred", source="MESH:D003003/inferred"} ! helminthiasis

[Term]
id: MONDO:0005706
name: coccidioidomycosis
def: "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." [NCIT:P378]
subset: gard_rare {source="GARD:9525", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228123"}
subset: orphanet_rare {source="Orphanet:228123"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "California disease" EXACT [Orphanet:228123]
synonym: "Coccidioides immitis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Coccidioides immitis disease or disorder" EXACT []
synonym: "Coccidioides immitis infectious disease" EXACT []
synonym: "Coccidioides infection" EXACT [Orphanet:228123]
synonym: "desert fever" EXACT [Orphanet:228123]
synonym: "desert rheumatism" EXACT [Orphanet:228123]
synonym: "primary extrapulmonary coccidioidomycosis" EXACT [DOID:13450]
synonym: "San Joaquin valley fever" EXACT [Orphanet:228123]
synonym: "Valley fever" EXACT [Orphanet:228123]
xref: DOID:13450 {source="MONDO:equivalentTo", source="EFO:0007211"}
xref: EFO:0007211 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9525 {source="MONDO:GARD"}
xref: ICD10CM:B38 {source="MONDO:equivalentTo", source="DOID:13450"}
xref: ICD10CM:B38.0 {source="Orphanet:228123/btnt", source="Orphanet:228123"}
xref: ICD10CM:B38.1 {source="Orphanet:228123/btnt", source="Orphanet:228123"}
xref: ICD10CM:B38.2 {source="Orphanet:228123/btnt", source="Orphanet:228123"}
xref: ICD10CM:B38.3 {source="Orphanet:228123/btnt", source="Orphanet:228123"}
xref: ICD10CM:B38.4 {source="Orphanet:228123/btnt", source="Orphanet:228123"}
xref: ICD10CM:B38.7 {source="Orphanet:228123/btnt", source="Orphanet:228123"}
xref: ICD10CM:B38.8 {source="Orphanet:228123/btnt", source="Orphanet:228123"}
xref: ICD10CM:B38.9 {source="Orphanet:228123/btnt", source="DOID:13450", source="Orphanet:228123"}
xref: ICD9:114 {source="DOID:13450"}
xref: ICD9:114.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:114.9 {source="DOID:13450"}
xref: MedDRA:10009825 {source="Orphanet:228123/e", source="Orphanet:228123"}
xref: MEDGEN:3137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003047 {source="Orphanet:228123/e", source="MONDO:equivalentTo", source="DOID:13450", source="Orphanet:228123", source="EFO:0007211"}
xref: NCIT:C84642 {source="MONDO:equivalentTo", source="DOID:13450"}
xref: Orphanet:228123 {source="MONDO:equivalentTo"}
xref: SCTID:154408001 {source="DOID:13450"}
xref: SCTID:187025009 {source="DOID:13450"}
xref: SCTID:187035003 {source="DOID:13450"}
xref: SCTID:187481007 {source="DOID:13450"}
xref: SCTID:23247008 {source="MONDO:equivalentTo"}
xref: SCTID:266218008 {source="DOID:13450"}
xref: SCTID:442543009 {source="DOID:13450"}
xref: SCTID:60826002 {source="DOID:13450"}
xref: UMLS:C0009186 {source="MEDGEN:3137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000308 {source="DOID:13450"} ! primary systemic mycosis
is_a: MONDO:0002041 {source="DOID:13450/inferred", source="ICD10CM:B38", source="MESH:D003047", source="MONDO:Redundant", source="NCIT:C84642"} ! fungal infectious disease
is_a: MONDO:0005135 {source="Orphanet:228123"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5501 ! Coccidioides immitis
relationship: disease_has_infectious_agent NCBITaxon:5501 ! Coccidioides immitis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0005707
name: coccidiosis
def: "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "coccidiosis (& [intestinal])" EXACT [DOID:2113]
synonym: "intestinal coccidiosis" RELATED [DOID:2113]
xref: DOID:2113 {source="MONDO:equivalentTo", source="EFO:0007212"}
xref: EFO:0007212 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:007.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003048 {source="DOID:2113", source="MONDO:equivalentTo", source="EFO:0007212"}
xref: NCIT:C34493 {source="DOID:2113", source="MONDO:equivalentTo"}
xref: SCTID:186125004 {source="DOID:2113"}
xref: SCTID:62005008 {source="DOID:2113", source="MONDO:equivalentTo"}
xref: UMLS:C0009187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3138"}
is_a: MONDO:0002428 {source="DOID:2113", source="MESH:D003048", source="NCIT:C34493"} ! protozoa infectious disease

[Term]
id: MONDO:0005708
name: Colorado tick fever
def: "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni." [MESH:D003121]
comment: Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature
subset: gard_rare {source="GARD:19042", source="MONDO:GARD"}
subset: nord_rare {source="NORD:989", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83595"}
subset: orphanet_rare {source="Orphanet:83595"}
subset: rare
synonym: "American mountain fever" EXACT [Orphanet:83595]
synonym: "Colorado tick encephalitis" EXACT [Orphanet:83595]
synonym: "Colorado tick fever virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Colorado tick fever virus disease or disorder" EXACT []
synonym: "Colorado tick fever virus infectious disease" EXACT []
synonym: "Colorado tick-borne disease" EXACT [Orphanet:83595]
synonym: "Mountain fever" EXACT [Orphanet:83595]
synonym: "Mountain tick fever" EXACT [Orphanet:83595]
synonym: "Tick fever, American mountain" EXACT [DOID:4885]
xref: DOID:4885 {source="EFO:0007213", source="MONDO:equivalentTo"}
xref: GARD:19042 {source="MONDO:GARD"}
xref: ICD10CM:A93.2 {source="Orphanet:83595/ntbt", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo"}
xref: icd11.foundation:951357413 {source="Orphanet:83595", source="MONDO:equivalentTo"}
xref: ICD9:066.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10010022 {source="Orphanet:83595", source="Orphanet:83595/e"}
xref: MEDGEN:40398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003121 {source="EFO:0007213", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="Orphanet:83595/e"}
xref: NORD:989 {source="MONDO:NORD"}
xref: Orphanet:83595 {source="MONDO:equivalentTo"}
xref: SCTID:186607005 {source="DOID:4885"}
xref: SCTID:6452009 {source="DOID:4885", source="MONDO:equivalentTo"}
xref: UMLS:C0009400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40398"}
is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83595"} ! viral encephalitis
is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83595"} ! infectious encephalitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:46839 ! disease has primary infectious agent Colorado tick fever virus
relationship: disease_has_infectious_agent NCBITaxon:46839 {source="MONDO:Wikidata"} ! Colorado tick fever virus
relationship: transmitted_by NCBITaxon:34620 ! Dermacentor andersoni

[Term]
id: MONDO:0005709
name: common cold
def: "An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute coryza" EXACT [DOID:10459]
synonym: "acute nasopharyngitis" EXACT [DOID:10459, NCIT:C34500]
synonym: "acute nasopharyngitis [common cold]" EXACT [DOID:10459, ICD9CM:460]
synonym: "acute rhinitis" EXACT [DOID:10459]
synonym: "acute viral rhinopharyngitis" EXACT [DOID:10459]
synonym: "nasopharyngitis - acute" EXACT [DOID:10459]
synonym: "nasopharyngitis, acute" EXACT [DOID:10459]
synonym: "rhino-sinusitis" EXACT [DOID:10459]
xref: DOID:10459 {source="EFO:0007214", source="MONDO:equivalentTo"}
xref: EFO:0007214 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J00 {source="DOID:10459"}
xref: ICD9:460 {source="DOID:10459", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003139 {source="EFO:0007214", source="DOID:10459", source="MONDO:equivalentTo"}
xref: NCIT:C34500 {source="DOID:10459", source="MONDO:equivalentTo"}
xref: NCIT:C78599 {source="DOID:10459"}
xref: SCTID:155497009 {source="DOID:10459"}
xref: SCTID:195648002 {source="DOID:10459"}
xref: SCTID:232341009 {source="DOID:10459"}
xref: SCTID:232342002 {source="DOID:10459"}
xref: SCTID:266377009 {source="DOID:10459"}
xref: SCTID:54150009 {source="DOID:10459"}
xref: SCTID:82272006 {source="DOID:10459", source="MONDO:equivalentTo"}
xref: UMLS:C0009443 {source="MEDGEN:3179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001040 {source="NCIT:C34500"} ! nasopharyngitis
is_a: MONDO:0004867 {source="DOID:10459", source="MONDO:Redundant"} ! upper respiratory tract disorder
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: has_characteristic MONDO:0021137 ! not rare

[Term]
id: MONDO:0005710
name: composite lymphoma
def: "Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site." [NCIT:C38661]
subset: gard_rare {source="GARD:20109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168966"}
subset: orphanet_rare {source="Orphanet:168966"}
subset: rare
synonym: "composite Hodgkin and non-Hodgkin lymphoma" EXACT [Orphanet:168966]
synonym: "composite lymphoma" EXACT [NCIT:C38661]
xref: DOID:5820 {source="EFO:0007215", source="MONDO:equivalentTo"}
xref: GARD:20109 {source="MONDO:GARD"}
xref: ICDO:9596/3 {source="NCIT:C38661"}
xref: MEDGEN:107468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058617 {source="EFO:0007215", source="DOID:5820", source="MONDO:equivalentTo", source="Orphanet:168966", source="Orphanet:168966/e"}
xref: NCIT:C38661 {source="DOID:5820", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:168966 {source="MONDO:equivalentTo"}
xref: UMLS:C0545080 {source="MEDGEN:107468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="DOID:5820/inferred", source="EFO:0007215", source="MESH:D058617", source="NCIT:C38661", source="Orphanet:168966"} ! lymphoma

[Term]
id: MONDO:0005711
name: congenital diaphragmatic hernia
def: "A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." [Orphanet:2140]
subset: gard_rare {source="GARD:1481", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2140"}
subset: ordo_morphological_anomaly {source="Orphanet:2140"}
subset: orphanet_rare {source="Orphanet:2140"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agenesis of hemidiaphragm" RELATED [GARD:0001481]
synonym: "CDH" EXACT ABBREVIATION [Orphanet:2140]
synonym: "congenital diaphragmatic defect" RELATED [GARD:0001481]
synonym: "congenital diaphragmatic hernia" EXACT CLINGEN_LABEL []
synonym: "diaphragmatic hernia" BROAD [DOID:3827, NCIT:C34687]
synonym: "unilateral agenesis of diaphragm" RELATED [GARD:0001481]
xref: DOID:3827 {source="EFO:0007216", source="MONDO:equivalentTo"}
xref: EFO:0007216 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:1481 {source="MONDO:GARD"}
xref: ICD10CM:K44 {source="DOID:3827"}
xref: ICD10CM:K44.9 {source="DOID:3827"}
xref: ICD10CM:Q79.0 {source="Orphanet:2140/e", source="Orphanet:2140"}
xref: icd11.foundation:1414428936 {source="MONDO:equivalentTo", source="Orphanet:2140"}
xref: MedDRA:10010439 {source="Orphanet:2140/e", source="Orphanet:2140"}
xref: MEDGEN:68625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538080 {source="Orphanet:2140/e", source="Orphanet:2140"}
xref: MESH:D006548 {source="DOID:3827"}
xref: MESH:D006551 {source="EFO:0007216", source="MONDO:relatedTo"}
xref: MESH:D065630 {xref="https://github.com/monarch-initiative/mondo/issues/2212", xref="MONDO:equivaentTo"}
xref: NANDO:1200911 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100040 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200210 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34687 {source="DOID:3827"}
xref: NCIT:C98893 {source="MONDO:equivalentTo"}
xref: OMIMPS:142340 {source="MONDO:equivalentTo"}
xref: Orphanet:2140 {source="MONDO:equivalentTo", source="DOID:3827"}
xref: SCTID:155748004 {source="DOID:3827"}
xref: SCTID:155750007 {source="DOID:3827"}
xref: SCTID:196901006 {source="DOID:3827"}
xref: SCTID:196911004 {source="DOID:3827"}
xref: SCTID:196912006 {source="DOID:3827"}
xref: SCTID:266444006 {source="DOID:3827"}
xref: SCTID:266511003 {source="DOID:3827"}
xref: SCTID:39839004 {source="DOID:3827"}
xref: UMLS:C0235833 {source="MEDGEN:68625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:142340"} ! hereditary disease
is_a: MONDO:0005728 {source="DOID:3827", source="EFO:0007216", source="EFO:0007216/inferred"} ! diaphragm disorder
relationship: excluded_subClassOf MONDO:0005087 {source="Orphanet:2140", source="https://orcid.org/0000-0001-5208-3432"} ! respiratory system disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:142340"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0005712
name: congenital nystagmus
def: "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" [MESH:D020417]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital idiopathic nystagmus" EXACT [Orphanet:651]
synonym: "congenital pathologic nystagmus" EXACT [MONDO:patterns/congenital]
synonym: "motor congenital nystagmus" EXACT [Orphanet:651]
synonym: "nystagmus" BROAD [MONDO:ambiguous]
synonym: "nystagmus, congenital" EXACT [OMIMPS:310700]
xref: DOID:9649 {source="EFO:0007217", source="MONDO:equivalentTo"}
xref: EFO:0007217 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000639 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H55.01 {source="DOID:9649", source="MONDO:equivalentTo"}
xref: ICD9:379.51 {source="DOID:9649", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:195995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020417 {source="DOID:9649", source="EFO:0007217", source="MONDO:equivalentTo"}
xref: OMIMPS:310700 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="DOID:9649", source="MONDO:equivalentObsolete"}
xref: SCTID:155205009 {source="DOID:9649"}
xref: SCTID:194173005 {source="DOID:9649"}
xref: SCTID:267750005 {source="DOID:9649"}
xref: SCTID:64635004 {source="DOID:9649", source="MONDO:equivalentTo"}
xref: UMLS:C0700501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195995"}
is_a: MONDO:0004843 {source="DOID:9649", source="MESH:D020417"} ! pathologic nystagmus
intersection_of: MONDO:0004843 ! pathologic nystagmus
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:310700"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0005713
name: obsolete MONDO:0005713
xref: NANDO:2200890 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4843" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017361

[Term]
id: MONDO:0005714
name: congenital syphilis
def: "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia." [NCIT:P378]
subset: gard_rare {source="GARD:22036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1753"}
subset: ordo_disorder {source="Orphanet:499009"}
subset: orphanet_rare {source="Orphanet:499009"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital syphilis" EXACT [MONDO:patterns/congenital]
synonym: "mother-to-child transmission of syphilis" EXACT [Orphanet:499009]
synonym: "MTCT of syphilis" EXACT [Orphanet:499009]
xref: DOID:9856 {source="MONDO:equivalentTo", source="EFO:0007219"}
xref: EFO:0007219 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22036 {source="MONDO:GARD"}
xref: ICD10CM:A50 {source="DOID:9856", source="MONDO:equivalentTo"}
xref: ICD10CM:A50.9 {source="DOID:9856"}
xref: icd11.foundation:587996426 {source="MONDO:equivalentTo", source="Orphanet:499009"}
xref: ICD9:090 {source="DOID:9856"}
xref: ICD9:090.9 {source="DOID:9856", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013590 {source="DOID:9856", source="MONDO:equivalentTo", source="EFO:0007219"}
xref: NCIT:C84649 {source="DOID:9856", source="MONDO:equivalentTo"}
xref: NORD:1753 {source="MONDO:NORD"}
xref: Orphanet:499009 {source="MONDO:equivalentTo"}
xref: SCTID:154380005 {source="DOID:9856"}
xref: SCTID:186845009 {source="DOID:9856"}
xref: SCTID:187352005 {source="DOID:9856"}
xref: SCTID:35742006 {source="DOID:9856", source="MONDO:equivalentTo"}
xref: UMLS:C0039131 {source="MEDGEN:52622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005976 {source="DOID:9856", source="EFO:0007219", source="MESH:D013590", source="NCIT:C84649"} ! syphilis
is_a: MONDO:0016511 {source="Orphanet:499009"} ! infectious embryofetopathy
intersection_of: MONDO:0005976 ! syphilis
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0005715
name: congenital toxoplasmosis
def: "Toxoplasma infection that is present from birth." [NCIT:P378]
subset: gard_rare {source="GARD:18708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:858"}
subset: orphanet_rare {source="Orphanet:858"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital toxoplasmosis" EXACT [DOID:13336, MONDO:patterns/congenital]
synonym: "mother-to-child transmission of toxoplasmosis" EXACT [Orphanet:858]
synonym: "Toxoplasma embryofetopathy" EXACT [Orphanet:858]
synonym: "Toxoplasma embryopathy" EXACT [Orphanet:858]
synonym: "toxoplasmosis - congen." EXACT [DOID:13336]
synonym: "toxoplasmosis, congenital" EXACT [NCIT:C50503]
xref: DOID:13336 {source="MONDO:equivalentTo", source="EFO:0007220"}
xref: EFO:0007220 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18708 {source="MONDO:GARD"}
xref: ICD10CM:P37.1 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="DOID:13336"}
xref: icd11.foundation:1194018225 {source="MONDO:equivalentTo", source="Orphanet:858"}
xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10010652 {source="Orphanet:858", source="Orphanet:858/e"}
xref: MEDGEN:52799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014125 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="EFO:0007220", source="DOID:13336"}
xref: NANDO:2200892 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50503 {source="MONDO:equivalentTo", source="DOID:13336"}
xref: Orphanet:858 {source="MONDO:equivalentTo"}
xref: SCTID:157118007 {source="DOID:13336"}
xref: SCTID:206335001 {source="DOID:13336"}
xref: SCTID:268875000 {source="DOID:13336"}
xref: SCTID:73893000 {source="MONDO:equivalentTo", source="DOID:13336"}
xref: UMLS:C0040560 {source="MEDGEN:52799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="MONDO:Redundant", source="Orphanet:858"} ! parasitic infectious disease
is_a: MONDO:0005989 {source="DOID:13336", source="MESH:D014125", source="NCIT:C50503"} ! toxoplasmosis
is_a: MONDO:0016511 {source="Orphanet:858"} ! infectious embryofetopathy
is_a: MONDO:0024619 {source="MESH:D014125/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! central nervous system infectious disorder
intersection_of: MONDO:0005989 ! toxoplasmosis
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0005716
name: contagious pleuropneumonia
def: "A pleuropneumonia of cattle and goats caused by species of mycoplasma." [MESH:D011002]
subset: otar {source="MONDO:OTAR"}
xref: DOID:5460 {source="MONDO:obsolete", source="EFO:0007221"}
xref: EFO:0007221 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:19357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011002 {source="MONDO:equivalentTo", source="EFO:0007221"}
xref: UMLS:C0032243 {source="MONDO:equivalentTo", source="MEDGEN:19357", source="MONDO:MEDGEN"}
is_a: MONDO:0005249 {source="EFO:0007221"} ! pneumonia

[Term]
id: MONDO:0005717
name: contagious pustular dermatitis
def: "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans." [MESH:D004474]
subset: otar {source="MONDO:OTAR"}
synonym: "ecthyma contagiosum" EXACT [DOID:8771]
synonym: "ecthyma, Contagious" EXACT [DOID:8771, MTH:NOCODE]
synonym: "Orf" EXACT [DOID:8771]
synonym: "scabby mouth" EXACT [DOID:8771]
synonym: "sheep pox" EXACT [DOID:8771]
synonym: "thistle disease" EXACT [DOID:8771]
xref: DOID:8771 {source="MONDO:equivalentTo", source="EFO:0007222"}
xref: EFO:0007222 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B08.02 {source="DOID:8771"}
xref: ICD9:051.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8771"}
xref: MEDGEN:41702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004474 {source="MONDO:equivalentTo", source="DOID:8771", source="EFO:0007222"}
xref: SCTID:154344005 {source="DOID:8771"}
xref: SCTID:266193008 {source="DOID:8771"}
xref: SCTID:74050005 {source="MONDO:equivalentTo", source="DOID:8771"}
xref: UMLS:C0013570 {source="MEDGEN:41702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:8771", source="EFO:0007222", source="MESH:D004474/inferred"} ! viral infectious disease
relationship: disease_has_infectious_agent NCBITaxon:10258 {source="MONDO:Wikidata"} ! Orf virus

[Term]
id: MONDO:0005718
name: Coronaviridae infectious disease
def: "Virus diseases caused by coronaviridae." [MESH:D003333]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2948 {source="MONDO:obsolete", source="EFO:0007223"}
xref: EFO:0007223 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:40491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003333 {source="EFO:0007223"}
xref: UMLS:C0010078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40491"}
is_a: MONDO:0005108 {source="EFO:0007223", source="MONDO:Entailed", source="MONDO:indirect"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11118 ! disease has primary infectious agent Coronaviridae

[Term]
id: MONDO:0005719
name: Coronavinae infectious disease
def: "Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine)." [MESH:D018352]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2946 {source="EFO:0007224", source="MONDO:obsolete"}
xref: EFO:0007224 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D018352 {source="EFO:0007224", source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007224", source="MESH:D018352/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:693995 ! disease has primary infectious agent Coronavirinae

[Term]
id: MONDO:0005720
name: cowpox
def: "A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal." [MESH:D015605]
subset: otar {source="MONDO:OTAR"}
synonym: "yaba" EXACT [DOID:8956]
xref: DOID:8956 {source="EFO:0007225", source="MONDO:equivalentTo"}
xref: EFO:0007225 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B08.010 {source="DOID:8956", source="MONDO:equivalentTo"}
xref: ICD9:051.01 {source="DOID:8956"}
xref: MEDGEN:3261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015605 {source="EFO:0007225", source="DOID:8956", source="MONDO:equivalentTo"}
xref: SCTID:154344005 {source="DOID:8956"}
xref: SCTID:266193008 {source="DOID:8956"}
xref: SCTID:70090004 {source="DOID:8956", source="MONDO:equivalentTo"}
xref: UMLS:C0010232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3261"}
is_a: MONDO:0005108 {source="DOID:8956", source="EFO:0007225", source="MESH:D015605/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10243 ! disease has primary infectious agent Cowpox virus
relationship: disease_has_infectious_agent NCBITaxon:10243 ! Cowpox virus

[Term]
id: MONDO:0005721
name: coxsackievirus infectious disease
def: "A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis." [MESH:D003384]
subset: otar {source="MONDO:OTAR"}
xref: DOID:10545 {source="MONDO:equivalentObsolete"}
xref: EFO:0007226 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003384 {source="EFO:0007226", source="MONDO:equivalentTo"}
xref: UMLS:C0010246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1159"}
is_a: MONDO:0005747 ! enterovirus infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12066 ! disease has primary infectious agent Coxsackievirus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3205" xsd:anyURI

[Term]
id: MONDO:0005722
name: croup
def: "Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor." [NCIT:C26735]
subset: otar {source="MONDO:OTAR"}
synonym: "acute laryngotracheitis" RELATED []
synonym: "acute laryngotracheobronchitis" EXACT [DOID:9395, http://cmr.asm.org/content/16/2/242.full]
synonym: "acute obstructive laryngitis" EXACT [DOID:9395, NCIT:C26735]
synonym: "croup syndrome" EXACT [DOID:9395]
xref: DOID:9395 {source="EFO:0007227", source="MONDO:equivalentTo"}
xref: EFO:0007227 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J05.0 {source="DOID:9395"}
xref: ICD9:464.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9395"}
xref: MEDGEN:3668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003440 {source="EFO:0007227", source="MONDO:equivalentTo", source="DOID:9395"}
xref: NCIT:C26735 {source="MONDO:equivalentTo", source="DOID:9395"}
xref: SCTID:155510007 {source="DOID:9395"}
xref: SCTID:195702002 {source="DOID:9395"}
xref: SCTID:71186008 {source="MONDO:equivalentTo", source="DOID:9395"}
xref: UMLS:C0010380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3668"}
is_a: MONDO:0004777 {source="NCIT:C26735"} ! acute laryngitis
is_a: MONDO:0005087 {source="DOID:9395", source="MESH:D003440/inferred", source="MONDO:Redundant"} ! respiratory system disorder
is_a: MONDO:0005550 {source="EFO:0007227", source="https://www.ncbi.nlm.nih.gov/books/NBK431070/"} ! infectious disease
relationship: disease_has_feature HP:0010307 {source="https://www.ncbi.nlm.nih.gov/books/NBK431070/"} ! Stridor
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata", source="https://www.ncbi.nlm.nih.gov/books/NBK431070/"} ! Cough
relationship: disease_has_inflammation_site UBERON:0001737 ! larynx
relationship: disease_has_inflammation_site UBERON:0002185 ! bronchus
relationship: disease_has_inflammation_site UBERON:0003126 ! trachea

[Term]
id: MONDO:0005723
name: Cryptococcal meningitis
def: "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)" [MESH:D016919]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cryptococcus neoformans caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cryptococcus neoformans infectious meningitis" EXACT []
xref: DOID:0080159 {source="MONDO:equivalentTo"}
xref: EFO:0007228 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:321.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:88410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016919 {source="EFO:0007228", source="MONDO:equivalentTo", source="DOID:0080159"}
xref: NCIT:C174113 {source="MONDO:equivalentTo"}
xref: SCTID:14232007 {source="MONDO:equivalentTo"}
xref: UMLS:C0085436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88410"}
is_a: MONDO:0006764 {source="DOID:0080159", source="MESH:D016919", source="MONDO:Redundant"} ! fungal meningitis
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:5207 ! Cryptococcus neoformans

[Term]
id: MONDO:0005724
name: cryptococcosis
def: "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004" [NCIT:P378]
subset: gard_rare {source="GARD:6218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1019"}
subset: ordo_disorder {source="Orphanet:1546"}
subset: orphanet_rare {source="Orphanet:1546"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Busse-Buschke's disease" EXACT [DOID:12053]
synonym: "Cryptococcal infection" EXACT [DOID:12053]
synonym: "Cryptococcus neoformans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cryptococcus neoformans disease or disorder" EXACT []
synonym: "cryptococcus neoformans infection" RELATED [DOID:12053]
synonym: "Cryptococcus neoformans infectious disease" EXACT []
synonym: "European cryptococcosis" EXACT [DOID:12053]
synonym: "torula" EXACT [DOID:12053]
synonym: "torulosis" EXACT [DOID:12053]
xref: DOID:12053 {source="EFO:0007229", source="MONDO:equivalentTo"}
xref: EFO:0007229 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6218 {source="MONDO:GARD"}
xref: ICD10CM:B45 {source="MONDO:equivalentTo", source="DOID:12053"}
xref: ICD10CM:B45.0 {source="Orphanet:1546", source="Orphanet:1546/btnt"}
xref: ICD10CM:B45.1 {source="Orphanet:1546", source="Orphanet:1546/btnt"}
xref: ICD10CM:B45.2 {source="Orphanet:1546", source="Orphanet:1546/btnt"}
xref: ICD10CM:B45.3 {source="Orphanet:1546", source="Orphanet:1546/btnt"}
xref: ICD10CM:B45.7 {source="Orphanet:1546", source="Orphanet:1546/btnt"}
xref: ICD10CM:B45.8 {source="Orphanet:1546", source="Orphanet:1546/btnt"}
xref: ICD10CM:B45.9 {source="DOID:12053", source="Orphanet:1546", source="Orphanet:1546/btnt"}
xref: ICD9:117.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12053"}
xref: MedDRA:10011490 {source="Orphanet:1546", source="Orphanet:1546/e"}
xref: MEDGEN:8189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003453 {source="EFO:0007229", source="MONDO:equivalentTo", source="DOID:12053", source="Orphanet:1546", source="Orphanet:1546/e"}
xref: NCIT:C2967 {source="MONDO:equivalentTo", source="DOID:12053"}
xref: NORD:1019 {source="MONDO:NORD"}
xref: Orphanet:1546 {source="MONDO:equivalentTo"}
xref: SCTID:187090005 {source="DOID:12053"}
xref: SCTID:187097008 {source="DOID:12053"}
xref: SCTID:187494009 {source="DOID:12053"}
xref: SCTID:20850004 {source="DOID:12053"}
xref: SCTID:42386007 {source="MONDO:equivalentTo", source="DOID:12053"}
xref: UMLS:C0010414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8189"}
is_a: MONDO:0002041 {source="DOID:12053/inferred", source="ICD10CM:B45", source="MESH:D003453", source="MONDO:Redundant", source="NCIT:C2967"} ! fungal infectious disease
is_a: MONDO:0002312 {source="DOID:12053", source="MONDO:Redundant"} ! opportunistic mycosis
is_a: MONDO:0005135 {source="Orphanet:1546"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5207 ! Cryptococcus neoformans
relationship: disease_has_infectious_agent NCBITaxon:5207 {source="MONDO:Wikidata"} ! Cryptococcus neoformans
relationship: disease_has_infectious_agent NCBITaxon:552467 {source="MONDO:Wikidata"} ! Cryptococcus bacillisporus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
relationship: has_characteristic MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis" xsd:anyURI {source="GARD:0006218"}

[Term]
id: MONDO:0005725
name: cyclosporiasis
def: "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain." [NCIT:C128409]
subset: gard_rare {source="GARD:9528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210"}
subset: orphanet_rare {source="Orphanet:210"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cyclospora caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cyclospora cayetanensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cyclospora cayetanensis disease or disorder" EXACT []
synonym: "Cyclospora cayetanensis infectious disease" EXACT []
synonym: "Cyclospora disease or disorder" EXACT []
synonym: "Cyclospora infection" RELATED [GARD:0009528]
synonym: "Cyclospora infectious disease" EXACT []
synonym: "cyclosporosis" EXACT [MONDO:0016212]
synonym: "infection of intestine caused by Cyclospora cayetanensis" EXACT []
synonym: "intestinal infection caused by Cyclospora cayetanensis" EXACT []
xref: DOID:12750 {source="MONDO:equivalentTo", source="EFO:0007230"}
xref: EFO:0007230 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9528 {source="MONDO:GARD"}
xref: ICD10CM:A07.3 {source="Orphanet:210/ntbt", source="Orphanet:210", source="MONDO:directSiblingOf"}
xref: ICD10CM:A07.4 {source="MONDO:equivalentTo", source="DOID:12750"}
xref: ICD9:007.5 {source="DOID:12750"}
xref: MEDGEN:91014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D021866 {source="MONDO:equivalentTo", source="EFO:0007230", source="DOID:12750"}
xref: NCIT:C128409 {source="MONDO:equivalentTo"}
xref: Orphanet:210 {source="MONDO:equivalentTo"}
xref: SCTID:240372001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:12750"}
xref: SCTID:716860005 {source="MONDO:equivalentTo"}
xref: UMLS:C0343398 {source="MEDGEN:91014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002428 {source="DOID:12750/inferred", source="MESH:D021866/inferred", source="NCIT:C128409", source="Orphanet:210"} ! protozoa infectious disease
is_a: MONDO:0005707 {source="DOID:12750", source="MESH:D021866"} ! coccidiosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:88456 ! Cyclospora cayetanensis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3694" xsd:anyURI

[Term]
id: MONDO:0005726
name: obsolete cysticercosis
is_obsolete: true
replaced_by: MONDO:0015484

[Term]
id: MONDO:0005727
name: obsolete cystoisosporiasis
is_obsolete: true
replaced_by: MONDO:0018769

[Term]
id: MONDO:0005728
name: diaphragm disorder
def: "A disease involving the diaphragm." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diaphragm disease" EXACT [MONDO:patterns/location]
synonym: "diaphragm disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "diaphragmatic disease" RELATED []
synonym: "diaphragmatic disorder" RELATED []
synonym: "disease of diaphragm" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of diaphragm" EXACT []
synonym: "disorder of diaphragm" EXACT [MONDO:patterns/location_top]
xref: DOID:10481 {source="MONDO:equivalentTo"}
xref: EFO:0007233 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J98.6 {source="DOID:10481"}
xref: ICD9:519.4 {source="DOID:10481"}
xref: MEDGEN:508886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:NoID {source="EFO:0007233"}
xref: SCTID:196182001 {source="DOID:10481"}
xref: SCTID:48475001 {source="MONDO:equivalentTo", source="DOID:10481"}
xref: UMLS:C0152097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508886"}
is_a: MONDO:0005087 {source="MONDO:Redundant"} ! respiratory system disorder
is_a: MONDO:0020120 {source="DOID:10481", source="EFO:0007233", source="MONDO:Entailed", source="MONDO:indirect"} ! skeletal muscle disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001103 ! diaphragm

[Term]
id: MONDO:0005729
name: dicrocoeliasis
def: "Infection with flukes of the genus Dicrocoelium." [MESH:D004011]
synonym: "Dicrocoelium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dicrocoelium disease or disorder" EXACT []
synonym: "Dicrocoelium infectious disease" EXACT []
synonym: "disease due to Dicrocoeliidae" EXACT [DOID:1219]
xref: DOID:1219 {source="MONDO:equivalentTo", source="EFO:0007234"}
xref: ICD10CM:B66.2 {source="DOID:1219"}
xref: ICD9:121.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004011 {source="MONDO:equivalentTo", source="DOID:1219", source="EFO:0007234"}
xref: SCTID:105668007 {source="MONDO:equivalentTo"}
xref: SCTID:8410006 {source="DOID:1219"}
xref: UMLS:C0012102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3813"}
is_a: MONDO:0004664 {source="DOID:1219", source="MESH:D004011/inferred"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:57077 ! Dicrocoelium

[Term]
id: MONDO:0005730
name: Dictyocaulus infectious disease
alt_id: MONDO:0025190
def: "Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation." [MESH:D004022]
synonym: "Dictyocauliases" RELATED [MESH:D004022]
synonym: "Dictyocauliasis" RELATED [MESH:D004022]
synonym: "Dictyocaulus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dictyocaulus disease or disorder" EXACT []
synonym: "Dictyocaulus infection" RELATED [MESH:D004022]
synonym: "infection, Dictyocaulus" RELATED [MESH:D004022]
synonym: "infections, Dictyocaulus" RELATED [MESH:D004022]
xref: DOID:4754 {source="EFO:0007235", source="MONDO:obsolete"}
xref: MESH:D004022 {source="EFO:0007235", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007235", source="MESH:D004022/inferred"} ! non-human animal disease
is_a: MONDO:0025082 {source="MESH:D004022"} ! helminthiasis, animal
is_a: MONDO:0700204 {source="MESH:D004022", source="MONDO:Redundant"} ! trichostrongyloidiasis, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: disease_has_infectious_agent NCBITaxon:29171 ! Dictyocaulus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: RO:0002175 NCBITaxon:9796 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9850 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0005731
name: dipetalonemiasis
def: "A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids." [NCIT:P378]
comment: Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms
subset: gard_rare {source="GARD:4", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:705"}
subset: rare
synonym: "Acanthocheilonema perstans infection" RELATED [GARD:0000004]
synonym: "Acanthocheilonemiasis" RELATED [GARD:0000004, NORD:705]
synonym: "Dipetalonema infection" EXACT [NCIT:C34540]
synonym: "Dipetalonema infections" EXACT [GARD:0000004, NCIT:C34540]
synonym: "Dipetalonema infectious disease" EXACT [DOID:14422]
synonym: "dipetalonemiasis" EXACT [GARD:0000004]
synonym: "infection by Dipetalonema" EXACT [DOID:14422]
synonym: "infection by Dipetalonema perstans" EXACT [DOID:14422]
synonym: "infection by Dipetalonema perstans (disorder) [ambiguous]" EXACT [DOID:14422]
synonym: "Mansonella perstans" EXACT [GARD:0000004]
synonym: "Mansonella perstans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mansonella perstans disease or disorder" EXACT []
synonym: "Mansonella perstans infectious disease" EXACT []
xref: DOID:14422 {source="EFO:0007237", source="MONDO:equivalentTo"}
xref: GARD:4 {source="MONDO:GARD"}
xref: ICD9:125.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14422"}
xref: MEDGEN:4329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004154 {source="EFO:0007237", source="MONDO:equivalentTo", source="DOID:14422"}
xref: NCIT:C34540 {source="MONDO:equivalentTo", source="DOID:14422"}
xref: NORD:705 {source="MONDO:NORD"}
xref: SCTID:15629006 {source="MONDO:equivalentTo", source="DOID:14422"}
xref: SCTID:360423002 {source="DOID:14422"}
xref: SCTID:40229007 {source="DOID:14422"}
xref: UMLS:C0012517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4329"}
is_a: MONDO:0005135 {source="DOID:14422/inferred", source="MESH:D004154/inferred", source="MONDO:Redundant", source="NCIT:C34540"} ! parasitic infectious disease
is_a: MONDO:0016075 {source="DOID:14422", source="MESH:D004154"} ! filariasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:42231 ! Mansonella perstans

[Term]
id: MONDO:0005732
name: obsolete diphyllobothriasis
is_obsolete: true
replaced_by: MONDO:0015260

[Term]
id: MONDO:0005733
name: obsolete dirofilariasis
is_obsolete: true
replaced_by: MONDO:0015636

[Term]
id: MONDO:0005734
name: dourine
def: "A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia." [MESH:D004313]
xref: DOID:13763 {source="MONDO:obsolete", source="EFO:0007240"}
xref: MESH:D004313 {source="MONDO:equivalentTo", source="EFO:0007240"}
xref: SCTID:15566009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007240", source="MESH:D004313/inferred"} ! non-human animal disease
is_a: MONDO:0024950 ! horse disease
property_value: RO:0002175 NCBITaxon:9793 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9796 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0005735
name: obsolete dracunculiasis
is_obsolete: true
replaced_by: MONDO:0016472

[Term]
id: MONDO:0005736
name: eastern equine encephalitis
def: "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality." [Orphanet:83594]
subset: gard_rare {source="GARD:10821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83594"}
subset: orphanet_rare {source="Orphanet:83594"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Eastern equine encephalomyelitis" EXACT [Orphanet:83594]
synonym: "EEE" RELATED ABBREVIATION [DOID:10841]
synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [DOID:10841]
xref: DOID:10841 {source="MONDO:equivalentTo", source="EFO:0007242"}
xref: EFO:0007242 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10821 {source="MONDO:GARD"}
xref: ICD10CM:A83.2 {source="DOID:10841", source="Orphanet:83594", source="Orphanet:83594/ntbt", source="MONDO:equivalentTo"}
xref: icd11.foundation:682536148 {source="Orphanet:83594", source="MONDO:equivalentTo"}
xref: ICD9:062.2 {source="DOID:10841"}
xref: MedDRA:10014587 {source="Orphanet:83594", source="Orphanet:83594/e"}
xref: MEDGEN:102258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020242 {source="DOID:10841", source="MONDO:equivalentTo", source="EFO:0007242"}
xref: Orphanet:83594 {source="MONDO:equivalentTo"}
xref: SCTID:40177004 {source="DOID:10841"}
xref: SCTID:416925005 {source="DOID:10841"}
xref: SCTID:417496004 {source="DOID:10841"}
xref: UMLS:C0153065 {source="MEDGEN:102258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006009 {source="DOID:10841", source="Orphanet:83594"} ! viral encephalitis
is_a: MONDO:0020067 {source="MESH:D020242/inferred", source="MONDO:Redundant", source="Orphanet:83594"} ! infectious encephalitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis" xsd:anyURI {source="GARD:0010821"}

[Term]
id: MONDO:0005737
name: Ebola hemorrhagic fever
def: "A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate." [NCIT:P378]
subset: gard_rare {source="GARD:2035", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319218"}
subset: orphanet_rare {source="Orphanet:319218"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ebola" EXACT [NCIT:C36171]
synonym: "Ebola fever" EXACT [Orphanet:319218]
synonym: "Ebola virus disease" EXACT [DOID:4325, Orphanet:319218]
synonym: "Ebolavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ebolavirus disease or disorder" EXACT []
synonym: "Ebolavirus infectious disease" EXACT []
synonym: "EHF" EXACT ABBREVIATION [Orphanet:319218]
xref: DOID:4325 {source="MONDO:equivalentTo", source="EFO:0007243"}
xref: EFO:0007243 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2035 {source="MONDO:GARD"}
xref: ICD10CM:A98.4 {source="Orphanet:319218", source="DOID:4325", source="Orphanet:319218/e"}
xref: icd11.foundation:792755706 {source="Orphanet:319218", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10014071 {source="Orphanet:319218", source="Orphanet:319218/e"}
xref: MEDGEN:129219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019142 {source="DOID:4325", source="MONDO:equivalentTo", source="EFO:0007243"}
xref: NCIT:C36171 {source="DOID:4325", source="MONDO:equivalentTo"}
xref: Orphanet:319218 {source="MONDO:equivalentTo"}
xref: SCTID:123323003 {source="DOID:4325"}
xref: SCTID:186746000 {source="DOID:4325"}
xref: SCTID:37109004 {source="DOID:4325", source="MONDO:equivalentTo"}
xref: UMLS:C0282687 {source="MEDGEN:129219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018087 {source="MESH:D019142", source="NCIT:C36171", source="Orphanet:319218"} ! viral hemorrhagic fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:186536 ! disease has primary infectious agent Ebolavirus
relationship: disease_has_feature HP:0000509 {source="MONDO:Wikidata"} ! Conjunctivitis
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_feature MONDO:0003799 {source="MONDO:Wikidata"} ! conjunctivitis
relationship: disease_has_infectious_agent NCBITaxon:186538 ! Zaire ebolavirus
relationship: disease_has_infectious_agent NCBITaxon:186540 ! Sudan ebolavirus
relationship: disease_has_infectious_agent NCBITaxon:565995 ! Bundibugyo virus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0005738
name: echinococcosis
def: "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "echinococcal disease" NARROW [DOID:1496]
synonym: "echinococciasis" RELATED []
synonym: "echinococcosis" EXACT []
synonym: "echinococcosis of liver" EXACT [DOID:1496]
synonym: "echinococcosis, unspecified, of liver" NARROW [DOID:1496, ICD9CM:122.8]
synonym: "Echinococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "echinococcus disease" RELATED []
synonym: "Echinococcus disease or disorder" EXACT []
synonym: "Echinococcus infectious disease" EXACT []
synonym: "hepatic echinococcosis" NARROW [DOID:1496]
synonym: "hydatid disease" NARROW [DOID:1496]
synonym: "hydatidosis" NARROW [DOID:1496]
synonym: "liver echinococcus" EXACT [DOID:1496]
synonym: "pulmonary echinococcosis" NARROW [DOID:1496]
xref: DOID:1496 {source="MONDO:equivalentTo", source="EFO:0007245"}
xref: EFO:0007245 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B67 {source="DOID:1496", source="MONDO:equivalentTo"}
xref: ICD10CM:B67.90 {source="DOID:1496"}
xref: ICD9:122 {source="DOID:1496"}
xref: ICD9:122.9
xref: MEDGEN:4438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004443 {source="DOID:1496", source="MONDO:equivalentTo", source="EFO:0007245"}
xref: NCIT:C84682 {source="DOID:1496", source="MONDO:equivalentTo"}
xref: SCTID:154414008 {source="DOID:1496"}
xref: SCTID:187143006 {source="DOID:1496"}
xref: SCTID:74942003 {source="DOID:1496", source="MONDO:equivalentTo"}
xref: UMLS:C0013502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4438"}
is_a: MONDO:0004664 {source="DOID:1496", source="MESH:D004443/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:1496/inferred", source="EFO:0007245", source="MESH:D004443/inferred", source="MONDO:Redundant", source="NCIT:C84682"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6209 ! Echinococcus
relationship: disease_has_infectious_agent NCBITaxon:6209 {source="MONDO:Wikidata"} ! Echinococcus

[Term]
id: MONDO:0005739
name: echinostomiasis
def: "Infection by flukes of the genus Echinostoma." [MESH:D004451]
subset: otar {source="MONDO:OTAR"}
synonym: "Echinostomatoidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echinostomatoidea disease or disorder" EXACT []
synonym: "Echinostomatoidea infectious disease" EXACT []
synonym: "infection by Echinochasmus" EXACT [DOID:1218]
xref: DOID:1218 {source="EFO:0007246", source="MONDO:equivalentTo"}
xref: EFO:0007246 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B66.8 {source="DOID:1218"}
xref: ICD9:121.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004451 {source="EFO:0007246", source="MONDO:equivalentTo", source="DOID:1218"}
xref: SCTID:36607007 {source="DOID:1218"}
xref: SCTID:52918004 {source="MONDO:equivalentTo", source="DOID:1218"}
xref: UMLS:C0013514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3956"}
is_a: MONDO:0004664 {source="DOID:1218", source="MESH:D004451/inferred"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:404429 ! Echinostomatoidea

[Term]
id: MONDO:0005740
name: Echovirus infectious disease
def: "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses." [MESH:D004457]
subset: otar {source="MONDO:OTAR"}
synonym: "echo Virus infection" RELATED [MESH:D004457]
synonym: "echo Virus infections" RELATED [MESH:D004457]
synonym: "Echovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echovirus disease or disorder" EXACT []
synonym: "Echovirus infection" RELATED [MESH:D004457]
synonym: "infection, echo Virus" RELATED [MESH:D004457]
synonym: "infection, Echovirus" RELATED [MESH:D004457]
synonym: "infections, echo Virus" RELATED [MESH:D004457]
synonym: "infections, Echovirus" RELATED [MESH:D004457]
xref: DOID:10911 {source="EFO:0007247", source="MONDO:obsolete"}
xref: EFO:0007247 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:41697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004457 {source="EFO:0007247", source="MONDO:equivalentTo"}
xref: SCTID:271532008 {source="MONDO:equivalentTo"}
xref: UMLS:C0013533 {source="MEDGEN:41697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 {source="EFO:0007247", source="MONDO:Redundant"} ! infectious disease
is_a: MONDO:0005747 {source="MESH:D004457", source="MONDO:Redundant"} ! enterovirus infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:33758 ! disease has primary infectious agent Echovirus

[Term]
id: MONDO:0005741
name: obsolete egg allergy
def: "OBSOLETE. Allergic reaction to eggs that is triggered by the immune system." [MESH:D021181]
synonym: "allergy of egg" EXACT [MONDO:patterns/allergy]
synonym: "allergy to eggs" EXACT [DOID:4377]
synonym: "egg allergic disease" EXACT []
xref: DOID:4377 {source="EFO:0007248", source="MONDO:obsoleteEquivalent"}
xref: ICD9:V15.03 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: MESH:D021181 {source="DOID:4377", source="EFO:0007248", source="MONDO:obsoleteEquivalent"}
xref: SCTID:157802003 {source="DOID:4377"}
xref: SCTID:213019003 {source="DOID:4377"}
xref: SCTID:91930004 {source="DOID:4377", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0005742
name: emphysematous cholecystitis
def: "Cholecystitis resulting from infection by gas producing organisms." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "gaseous pericholecystitis" EXACT [DOID:9765]
xref: DOID:9765 {source="EFO:0007249", source="MONDO:equivalentTo"}
xref: MEDGEN:101072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D041882 {source="DOID:9765", source="EFO:0007249", source="MONDO:equivalentTo"}
xref: NCIT:C35592 {source="DOID:9765", source="MONDO:equivalentTo"}
xref: SCTID:95558008 {source="DOID:9765", source="MONDO:equivalentTo"}
xref: UMLS:C0521610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101072"}
is_a: MONDO:0002155 {source="DOID:9765", source="MESH:D041882/inferred", source="NCIT:C35592"} ! cholecystitis
is_a: MONDO:0006032 {source="EFO:0007249"} ! cystitis

[Term]
id: MONDO:0005743
name: encephalitozoonosis
def: "Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium." [MESH:D016890]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection by Encephalitozoon" EXACT [DOID:4270]
xref: DOID:4270 {source="MONDO:equivalentTo", source="EFO:0007250"}
xref: EFO:0007250 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016890 {source="MONDO:equivalentTo", source="EFO:0007250", source="DOID:4270"}
xref: SCTID:12825006 {source="MONDO:equivalentTo", source="DOID:4270"}
xref: UMLS:C0085412 {source="MEDGEN:39043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005846 {source="DOID:4270", source="MESH:D016890"} ! microsporidiosis
relationship: disease_has_infectious_agent NCBITaxon:27973 ! Encephalitozoon hellem
relationship: disease_has_infectious_agent NCBITaxon:58839 ! Encephalitozoon intestinalis
relationship: disease_has_infectious_agent NCBITaxon:6035 ! Encephalitozoon cuniculi

[Term]
id: MONDO:0005744
name: yolk sac tumor
def: "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." [NCIT:P378]
subset: gard_rare {source="GARD:348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:876"}
subset: orphanet_rare {source="Orphanet:876"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endodermal sinus neoplasm" EXACT [NCIT:C3011]
synonym: "endodermal sinus tumor" EXACT [NCIT:C3011, Orphanet:876]
synonym: "endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "hepatoid yolk sac tumor" EXACT [DOID:1911]
synonym: "hepatoid yolk sac tumour" EXACT OMO:0003005 []
synonym: "infantile embryonal carcinoma" NARROW [DOID:1911]
synonym: "yolk Sac neoplasm" EXACT [DOID:1911, NCIT:C3011]
synonym: "yolk Sac tumor" EXACT [NCIT:C3011]
synonym: "yolk sac tumor" EXACT [DOID:1911, MONDO:0019495]
synonym: "yolk Sac tumor site unspecified" EXACT [NCIT:C3011]
synonym: "yolk SAC tumor, malignant" EXACT [NCIT:C3011]
synonym: "yolk Sac tumour" EXACT OMO:0003005 []
synonym: "yolk Sac tumour site unspecified" EXACT OMO:0003005 []
xref: DOID:1911 {source="MONDO:equivalentTo", source="EFO:0007252"}
xref: EFO:0007252 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:348 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:876", source="Orphanet:876/btnt"}
xref: ICD10CM:C62.9 {source="Orphanet:876", source="Orphanet:876/btnt"}
xref: ICDO:9071/3 {source="NCIT:C3011"}
xref: MedDRA:10048251 {source="Orphanet:876", source="Orphanet:876/e"}
xref: MEDGEN:41782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018240 {source="DOID:1911", source="EFO:0007252"}
xref: NANDO:2200069 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3011 {source="MONDO:equivalentTo", source="DOID:1911"}
xref: ONCOTREE:BYST {source="MONDO:equivalentTo"}
xref: Orphanet:876 {source="MONDO:equivalentTo"}
xref: SCTID:404081005 {source="MONDO:equivalentTo", source="DOID:1911"}
xref: SCTID:74409009 {source="DOID:1911"}
xref: UMLS:C0014145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41782"}
is_a: MONDO:0005040 {source="DOID:1911", source="EFO:0007252", source="MONDO:Redundant", source="NCIT:C3011/inferred"} ! germ cell tumor
is_a: MONDO:0006290 {source="NCIT:C3011"} ! malignant germ cell tumor
is_a: MONDO:0020539 {source="Orphanet:876"} ! extragonadal non-dysgerminomatous germ cell tumor
is_a: MONDO:0021656 {source="MONDO:Redundant", source="NCIT:C3011"} ! nongerminomatous germ cell tumor

[Term]
id: MONDO:0005745
name: Enoplea infectious disease
def: "Infections with nematodes of the order enoplida." [MESH:D017189]
synonym: "Enoplea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enoplea disease or disorder" EXACT []
xref: DOID:1253 {source="MONDO:obsolete", source="EFO:0007253"}
xref: MESH:D017189 {source="MONDO:equivalentTo", source="EFO:0007253"}
is_a: MONDO:0005135 {source="EFO:0007253", source="MESH:D017189/inferred"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:119088 ! Enoplea

[Term]
id: MONDO:0005746
name: enterobiasis
def: "An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus." [NCIT:C128396]
subset: otar {source="MONDO:OTAR"}
synonym: "Enterobius vermicularis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enterobius vermicularis disease or disorder" EXACT []
synonym: "Enterobius vermicularis infection" RELATED [DOID:7457]
synonym: "Enterobius vermicularis infectious disease" EXACT []
synonym: "oxyuriasis" RELATED [DOID:7457]
synonym: "Oxyuris vermicularis infection" EXACT [DOID:7457]
synonym: "pinworm infection" RELATED [DOID:7457]
synonym: "threadworm infection" EXACT [DOID:7457]
xref: DOID:7457 {source="MONDO:equivalentTo", source="EFO:0007254"}
xref: EFO:0007254 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B80 {source="DOID:7457", source="MONDO:equivalentTo"}
xref: ICD9:127.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:88540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010123 {source="DOID:7457", source="EFO:0007254"}
xref: MESH:D017229 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C128396 {source="MONDO:equivalentTo"}
xref: SCTID:154415009 {source="DOID:7457"}
xref: SCTID:187178006 {source="DOID:7457"}
xref: SCTID:19722001 {source="DOID:7457"}
xref: SCTID:266162007 {source="DOID:7457", source="MONDO:equivalentTo"}
xref: SCTID:266222003 {source="DOID:7457"}
xref: UMLS:C0086227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88540"}
is_a: MONDO:0004664 {source="DOID:7457", source="ICD10CM:B80"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:7457/inferred", source="EFO:0007254", source="MONDO:Redundant", source="NCIT:C128396"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:51028 ! Enterobius vermicularis
relationship: disease_has_feature HP:0002019 {source="MONDO:Wikidata"} ! Constipation
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0002203 {source="MONDO:Wikidata"} ! constipation disorder

[Term]
id: MONDO:0005747
name: enterovirus infectious disease
def: "An disease caused by infection with Enterovirus." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: otar {source="MONDO:OTAR"}
synonym: "disease caused by enterovirus" RELATED []
synonym: "disease due to enterovirus" EXACT []
synonym: "enteroviral infection" RELATED []
synonym: "Enterovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enterovirus disease or disorder" EXACT []
synonym: "Enterovirus infection" RELATED [MESH:D004769]
synonym: "enterovirus infection" RELATED []
synonym: "Enterovirus infectious disease" EXACT []
synonym: "enterovirus infectious disease" EXACT []
synonym: "infection, Enterovirus" RELATED [MESH:D004769]
synonym: "infections, Enterovirus" RELATED [MESH:D004769]
xref: DOID:4808 {source="MONDO:obsolete", source="EFO:0007255"}
xref: EFO:0007255 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:079.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004769 {source="MONDO:equivalentTo", source="EFO:0007255"}
xref: SCTID:53648006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014378 {source="MONDO:equivalentTo", source="MEDGEN:8647", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007255", source="MESH:D004769/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12059 ! disease has primary infectious agent Enterovirus
relationship: disease_has_location UBERON:0001555 ! digestive tract

[Term]
id: MONDO:0005748
name: enzootic pneumonia of calves
def: "Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species." [MESH:D048089]
xref: DOID:13274 {source="MONDO:obsolete", source="EFO:0007256"}
xref: MESH:D048089 {source="MONDO:equivalentTo", source="EFO:0007256"}
is_a: MONDO:0005583 {source="MESH:D048089/inferred"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0700110 ! pneumonia, non-human animal
relationship: in_taxon NCBITaxon:9895 ! Bovidae
relationship: in_taxon NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Bos taurus

[Term]
id: MONDO:0005749
name: eosinophilic pneumonia
def: "An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss." [NCIT:C35150]
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eosinophilic pneumonia" EXACT [NCIT:C35150]
synonym: "pneumonia, eosinophilic" EXACT [DOID:5870]
xref: DOID:5870 {source="EFO:0007257", source="MONDO:equivalentTo"}
xref: EFO:0007257 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J82 {source="DOID:5870"}
xref: MEDGEN:282904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011657 {source="EFO:0007257", source="MONDO:relatedTo", source="DOID:5870"}
xref: NCIT:C35150 {source="MONDO:equivalentTo", source="DOID:5870"}
xref: SCTID:196145005 {source="DOID:5870"}
xref: SCTID:367542003 {source="MONDO:relatedTo", source="DOID:5870"}
xref: SCTID:91053000 {source="DOID:5870"}
xref: UMLS:C1527407 {source="MONDO:equivalentTo", source="MEDGEN:282904", source="MONDO:MEDGEN"}
is_a: MONDO:0005249 {source="DOID:5870", source="EFO:0007257"} ! pneumonia
relationship: disease_has_feature HP:0000975 ! Hyperhidrosis
relationship: disease_has_feature HP:0002090 ! Pneumonia

[Term]
id: MONDO:0005750
name: ephemeral fever
def: "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness." [MESH:D004810]
subset: otar {source="MONDO:OTAR"}
xref: DOID:5215 {source="EFO:0007258", source="MONDO:obsolete"}
xref: EFO:0007258 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D004810 {source="EFO:0007258", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007258", source="MESH:D004810/inferred"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0005751
name: epidemic pleurodynia
def: "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." [MESH:D011000]
synonym: "Bamble disease" EXACT [DOID:10882]
synonym: "Bornholm disease" EXACT [DOID:10882]
synonym: "devil's grip" EXACT [DOID:10882]
synonym: "epidemic myalgia" EXACT [DOID:10882]
synonym: "epidemic pleurisy" EXACT [DOID:10882]
synonym: "epidemic, myositis" EXACT [DOID:10882]
xref: DOID:10882 {source="EFO:0007259", source="MONDO:equivalentTo"}
xref: ICD10CM:B33.0 {source="MONDO:equivalentTo", source="DOID:10882"}
xref: ICD9:074.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10882"}
xref: MEDGEN:19355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011000 {source="EFO:0007259", source="MONDO:equivalentTo", source="DOID:10882"}
xref: SCTID:154356006 {source="DOID:10882"}
xref: SCTID:83264000 {source="MONDO:equivalentTo", source="DOID:10882"}
xref: UMLS:C0032238 {source="MEDGEN:19355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:10882", source="EFO:0007259", source="MESH:D011000/inferred", source="MONDO:Redundant"} ! viral infectious disease
relationship: disease_has_feature HP:0002102 ! Pleuritis
relationship: disease_has_infectious_agent NCBITaxon:138949 ! Enterovirus B

[Term]
id: MONDO:0005752
name: epidural abscess
def: "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)" [MESH:D020802]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abscess epidural" EXACT [DOID:11387]
synonym: "extradural intraspinal abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007]
synonym: "intraspinal epidural abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007]
synonym: "intraspinal extradural abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007]
synonym: "spinal epidural abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007]
synonym: "spinal epidural abscess (disorder)" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007]
synonym: "spinal extradural abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4270778, SCTID:63627007]
xref: DOID:11387 {source="MONDO:equivalentTo", source="EFO:0007260"}
xref: EFO:0007260 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:82848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020802 {source="MONDO:equivalentTo", source="EFO:0007260", source="DOID:11387"}
xref: SCTID:192752004 {source="DOID:11387"}
xref: SCTID:310671007 {source="DOID:11387"}
xref: SCTID:61974008 {source="MONDO:equivalentTo", source="DOID:11387"}
xref: UMLS:C0270629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82848"}
is_a: MONDO:0005227 {source="https://orcid.org/0000-0001-5208-3432"} ! abscess
is_a: MONDO:0006130 {source="EFO:0007260"} ! central nervous system neoplasm

[Term]
id: MONDO:0005753
name: epiglottitis
def: "Inflammation of the epiglottis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute epiglottitis" RELATED EXCLUDE [DOID:9398]
synonym: "acute epiglottitis and supraglottitis" EXACT [DOID:9398]
synonym: "inflammation of mucosa of epiglottis" EXACT []
synonym: "mucosa of epiglottis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "supraglottitis" EXACT [NCIT:C116007]
xref: DOID:9398 {source="MONDO:equivalentTo", source="EFO:0007261"}
xref: EFO:0007261 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J05.1 {source="DOID:9398"}
xref: ICD10CM:J05.10 {source="DOID:9398"}
xref: ICD9:464.3 {source="DOID:9398"}
xref: MEDGEN:4505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004826 {source="MONDO:equivalentTo", source="EFO:0007261", source="DOID:9398"}
xref: NCIT:C116007 {source="MONDO:equivalentTo", source="DOID:9398"}
xref: SCTID:155509002 {source="DOID:9398"}
xref: SCTID:195701009 {source="DOID:9398"}
xref: SCTID:29608009 {source="DOID:9398"}
xref: SCTID:80384002 {source="MONDO:equivalentTo", source="DOID:9398"}
xref: UMLS:C0014541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4505"}
is_a: MONDO:0004867 {source="DOID:9398"} ! upper respiratory tract disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0004982 ! mucosa of epiglottis

[Term]
id: MONDO:0005754
name: epilepsy with generalized tonic-clonic seizures
def: "A generalized tonic-clonic seizure." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epileptic seizures, tonic-clonic" EXACT [DOID:7725]
synonym: "grand Mal epilepsy" EXACT [DOID:7725, NCIT:C3022]
synonym: "tonic-clonic epilepsy" EXACT [DOID:7725]
xref: DOID:7725 {source="MONDO:equivalentTo", source="EFO:0007262"}
xref: EFO:0007262 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004830 {source="MONDO:equivalentTo", source="DOID:7725", source="EFO:0007262"}
xref: NCIT:C3022 {source="MONDO:equivalentTo", source="DOID:7725"}
xref: SCTID:352818000 {source="MONDO:equivalentTo", source="DOID:7725"}
xref: UMLS:C0014549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4987"}
is_a: MONDO:0000415 {source="DOID:7725"} ! adolescence-adult electroclinical syndrome
is_a: MONDO:0005027 {source="DOID:7725/inferred", source="EFO:0007262", source="MESH:D004830/inferred", source="MONDO:Redundant", source="NCIT:C3022"} ! epilepsy
is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/egtcsa-overview.html" xsd:anyURI

[Term]
id: MONDO:0005755
name: equine infectious anemia
def: "Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions." [MESH:D004859]
subset: otar {source="MONDO:OTAR"}
xref: DOID:5002 {source="EFO:0007263", source="MONDO:obsolete"}
xref: EFO:0007263 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D004859 {source="MONDO:equivalentTo", source="EFO:0007263"}
xref: NCIT:C84694 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="https://orcid.org/0000-0001-5493-2602"} ! non-human animal disease
is_a: MONDO:0024950 {source="https://orcid.org/0000-0001-5208-3432"} ! horse disease
is_a: MONDO:0700053 {source="EFO:0007263", source="MESH:D004859/inferred"} ! viral infectious disease, non-human animal
is_a: MONDO:0700170 {source="https://orcid.org/0000-0002-4142-7153"} ! equine neoplasm
relationship: in_taxon NCBITaxon:9788 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Equidae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4420" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0005756
name: ethmoid sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ethmoid bone sinusitis" EXACT [MONDO:patterns/location]
synonym: "ethmoidal sinusitis" EXACT [DOID:9507, NCIT:C34597]
synonym: "ethmoiditis" EXACT [DOID:9507]
synonym: "sinusitis of ethmoid bone" EXACT [MONDO:design_pattern]
xref: DOID:9507 {source="MONDO:equivalentTo", source="EFO:0007264"}
xref: EFO:0007264 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J32.2 {source="DOID:9507"}
xref: MEDGEN:5046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015521 {source="MONDO:equivalentTo", source="DOID:9507", source="EFO:0007264"}
xref: NCIT:C34597 {source="MONDO:equivalentTo", source="DOID:9507"}
xref: SCTID:18643000 {source="MONDO:equivalentTo", source="DOID:9507"}
xref: UMLS:C0015029 {source="MEDGEN:5046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005961 {source="DOID:9507", source="EFO:0007264", source="MESH:D015521", source="MONDO:Redundant", source="NCIT:C34597"} ! sinusitis
intersection_of: MONDO:0005961 ! sinusitis
intersection_of: disease_has_location UBERON:0001679 ! ethmoid bone

[Term]
id: MONDO:0005757
name: eumycotic mycetoma
def: "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "eumycetoma" EXACT [DOID:13078]
synonym: "Madura foot" BROAD [DOID:13078, ICD9CM:039.4]
synonym: "maduromycosis" EXACT [DOID:13078]
synonym: "Maduromycosis, mycotic" EXACT [DOID:13078]
synonym: "mycotic mycetoma" EXACT [DOID:13078]
xref: DOID:13078 {source="MONDO:equivalentTo", source="EFO:0007265"}
xref: EFO:0007265 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B47 {source="MONDO:relatedTo", source="DOID:13078"}
xref: ICD10CM:B47.9 {source="DOID:13078"}
xref: ICD9:117.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:390045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008271 {source="MONDO:relatedTo", source="DOID:13078", source="EFO:0007265"}
xref: NCIT:C85505 {source="MONDO:relatedTo", source="DOID:13078"}
xref: SCTID:187497002 {source="DOID:13078"}
xref: SCTID:410038006 {source="MONDO:equivalentTo"}
xref: SCTID:410039003 {source="MONDO:relatedTo", source="DOID:13078"}
xref: UMLS:C2350621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390045"}
is_a: MONDO:0002040 {source="DOID:13078"} ! dermatomycosis
is_a: MONDO:0005093 {source="EFO:0007265", source="MONDO:Redundant"} ! skin disorder

[Term]
id: MONDO:0005758
name: eunuchism
def: "The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones." [MESH:D005058]
subset: otar {source="MONDO:OTAR"}
synonym: "hypergonadotropic hypogonadism (Male)" RELATED [NCIT:C131195]
synonym: "Male hypergonadotropic hypogonadism" RELATED [NCIT:C131195]
synonym: "Primary testicular failure" EXACT [NCIT:C131195]
xref: DOID:5003 {source="MONDO:equivalentTo", source="EFO:0007266"}
xref: EFO:0007266 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:257.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:65949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005058 {source="DOID:5003", source="MONDO:equivalentTo", source="EFO:0007266"}
xref: NCIT:C131195 {source="MONDO:equivalentTo"}
xref: SCTID:190559001 {source="DOID:5003"}
xref: SCTID:267403002 {source="DOID:5003", source="MONDO:equivalentTo"}
xref: UMLS:C0238117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65949"}
is_a: MONDO:0002146 {source="DOID:5003", source="MESH:D005058"} ! hypogonadism

[Term]
id: MONDO:0005759
name: fascioloidiasis
def: "Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma." [MESH:D005213]
xref: DOID:1217 {source="EFO:0007268", source="MONDO:equivalentTo"}
xref: MEDGEN:8791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005213 {source="EFO:0007268", source="MONDO:equivalentTo", source="DOID:1217"}
xref: SCTID:69550000 {source="MONDO:equivalentTo", source="DOID:1217"}
xref: UMLS:C0015655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8791"}
is_a: MONDO:0004664 {source="DOID:1217", source="MESH:D005213/inferred"} ! helminthiasis

[Term]
id: MONDO:0005760
name: obsolete fibroepithelial neoplasm
is_obsolete: true
replaced_by: MONDO:0021045

[Term]
id: MONDO:0005761
name: filarial elephantiasis
def: "Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis." [MESH:D004605]
subset: gard_rare {source="GARD:3321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1082"}
subset: ordo_disorder {source="Orphanet:2035"}
subset: orphanet_rare {source="Orphanet:2035"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bancroftian elephantiasis" EXACT [DOID:12211]
synonym: "Bancroftian filarial chyluria" EXACT [DOID:12211]
synonym: "Bancroftian filariasis" RELATED [GARD:0003321]
synonym: "Elephantiasis" BROAD [NORD:1082]
synonym: "elephantiasis" BROAD [GARD:0003321, NCIT:C128360]
synonym: "elephantiasis of eyelid" EXACT [DOID:12211]
synonym: "eyelid elephantiasis" EXACT [MONDO:patterns/location]
synonym: "lymphatic filariasis" RELATED EXCLUDE [DOID:12211]
synonym: "Malayi tropical eosinphilia" RELATED [GARD:0003321]
synonym: "Wuchereria Bancrofti infection" RELATED [GARD:0003321]
synonym: "Wuchereriasis" RELATED [GARD:0003321]
xref: DOID:12211 {source="MONDO:equivalentTo", source="EFO:0007272"}
xref: EFO:0007272 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3321 {source="MONDO:GARD"}
xref: ICD10CM:B74.0 {source="Orphanet:2035/btnt", source="Orphanet:2035", source="DOID:12211"}
xref: ICD10CM:B74.1 {source="Orphanet:2035/btnt", source="Orphanet:2035"}
xref: ICD10CM:B74.2 {source="Orphanet:2035/btnt", source="Orphanet:2035"}
xref: icd11.foundation:247221550 {source="Orphanet:2035", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:374.83 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10016675 {source="Orphanet:2035", source="Orphanet:2035/e"}
xref: MEDGEN:8583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004605 {source="MONDO:equivalentTo", source="EFO:0007272", source="DOID:12211"}
xref: NCIT:C128360 {source="MONDO:equivalentTo"}
xref: NORD:1082 {source="MONDO:NORD"}
xref: Orphanet:2035 {source="MONDO:equivalentTo"}
xref: SCTID:14100003 {source="MONDO:equivalentTo"}
xref: SCTID:240820001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:12211"}
xref: SCTID:240825006 {source="DOID:12211"}
xref: SCTID:91586009 {source="DOID:12211"}
xref: UMLS:C0013884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8583"}
is_a: MONDO:0003382 {source="DOID:12211", source="MONDO:Entailed"} ! eyelid disorder
is_a: MONDO:0005424 {source="DOID:12211", source="MONDO:Entailed", source="MONDO:Redundant"} ! elephantiasis
is_a: MONDO:0016075 {source="DOID:12211", source="MESH:D004605", source="NCIT:C128360", source="Orphanet:2035"} ! filariasis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005424 ! elephantiasis
intersection_of: disease_has_location UBERON:0001711 ! eyelid
relationship: disease_has_feature HP:0000031 ! Epididymitis
relationship: disease_has_feature HP:0000962 ! Hyperkeratosis
relationship: disease_has_feature HP:0001004 ! Lymphedema
relationship: disease_has_feature HP:0002840 ! Lymphadenitis
relationship: disease_has_feature MONDO:0005424 {source="MONDO:Wikidata"} ! elephantiasis

[Term]
id: MONDO:0005762
name: Filoviridae infectious disease
def: "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." [MESH:D018702]
synonym: "Filoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Filoviridae disease or disorder" EXACT []
xref: DOID:4326 {source="MONDO:obsolete", source="EFO:0007273"}
xref: MEDGEN:67006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018702 {source="MONDO:equivalentTo", source="EFO:0007273"}
xref: UMLS:C0242917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67006"}
is_a: MONDO:0005108 {source="EFO:0007273", source="MESH:D018702/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11266 ! disease has primary infectious agent Filoviridae

[Term]
id: MONDO:0005763
name: Flaviviridae infectious disease
def: "Infections with viruses of the family flaviviridae." [MESH:D018178]
subset: otar {source="MONDO:OTAR"}
synonym: "Flaviviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Flaviviridae disease or disorder" EXACT []
xref: DOID:1886 {source="EFO:0007274", source="MONDO:obsolete"}
xref: EFO:0007274 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D018178 {source="MONDO:equivalentTo", source="EFO:0007274"}
xref: SCTID:111865007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007274", source="MESH:D018178/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11050 ! disease has primary infectious agent Flaviviridae

[Term]
id: MONDO:0005764
name: follicular dendritic cell sarcoma
def: "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." [NCIT:C9281]
subset: gard_rare {source="GARD:19081", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86902"}
subset: orphanet_rare {source="Orphanet:86902"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "follicular Dendritic cell sarcoma" EXACT [DOID:6262, NCIT:C9281]
synonym: "follicular dendritic cell sarcoma" EXACT [MONDO:patterns/location]
synonym: "follicular Dendritic cell sarcoma/tumor" EXACT [NCIT:C9281]
synonym: "follicular dendritic cell tumor" EXACT [DOID:6262]
synonym: "follicular dendritic cell tumour" EXACT OMO:0003005 []
synonym: "sarcoma of follicular dendritic cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:6262 {source="MONDO:equivalentTo", source="EFO:0007276"}
xref: EFO:0007276 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19081 {source="MONDO:GARD"}
xref: ICD10CM:C96.4 {source="Orphanet:86902", source="DOID:6262", source="Orphanet:86902/ntbt"}
xref: icd11.foundation:15445528 {source="MONDO:equivalentTo", source="Orphanet:86902"}
xref: ICDO:9758/1 {source="NCIT:C9281"}
xref: ICDO:9758/3 {source="NCIT:C9281"}
xref: MEDGEN:220355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054740 {source="MONDO:equivalentTo", source="Orphanet:86902", source="DOID:6262", source="EFO:0007276", source="Orphanet:86902/e"}
xref: NANDO:2200034 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9281 {source="MONDO:equivalentTo", source="DOID:6262"}
xref: ONCOTREE:FDCS {source="MONDO:equivalentTo"}
xref: Orphanet:86902 {source="MONDO:equivalentTo"}
xref: SCTID:128816008 {source="DOID:6262"}
xref: UMLS:C1260325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220355"}
is_a: MONDO:0004380 {source="DOID:6262", source="MONDO:Redundant"} ! dendritic cell sarcoma
is_a: MONDO:0006247 {source="DOID:6262/inferred", source="MONDO:Redundant", source="NCIT:C9281", source="Orphanet:86902/inferred"} ! histiocytic and dendritic cell neoplasm
is_a: MONDO:0017345 {source="Orphanet:86902"} ! Epstein-Barr virus-associated mesenchymal tumor
is_a: MONDO:0020082 {source="Orphanet:86902"} ! dendritic cell tumor
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location CL:0000442 ! follicular dendritic cell
relationship: disease_has_location CL:0000451 {source="EFO:0000784"} ! dendritic cell

[Term]
id: MONDO:0005765
name: foot and mouth disease
def: "A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness." [EFO:0007277]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11261 {source="MONDO:obsolete", source="EFO:0007277"}
xref: EFO:0007277 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D005536 {source="MONDO:equivalentTo", source="EFO:0007277"}
is_a: MONDO:0005583 {source="EFO:0007277", source="MESH:D005536"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0024990 ! swine disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-4142-7153"} ! viral infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:9823 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9913 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0005766
name: fungal lung infectious disease
def: "Pulmonary diseases caused by fungal infections, usually through hematogenous spread." [MESH:D008172]
subset: otar {source="MONDO:OTAR"}
synonym: "fungal disease, pulmonary" RELATED [MESH:D008172]
synonym: "fungal diseases, pulmonary" RELATED [MESH:D008172]
synonym: "fungal infection, pulmonary" RELATED [MESH:D008172]
synonym: "fungal infections, pulmonary" RELATED [MESH:D008172]
synonym: "fungal lung disease" RELATED [MESH:D008172]
synonym: "fungal lung diseases" RELATED [MESH:D008172]
synonym: "Fungi caused lung disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi lung disease" EXACT []
synonym: "lung disease, fungal" RELATED [MESH:D008172]
synonym: "pulmonary fungal disease" RELATED [MESH:D008172]
synonym: "pulmonary fungal diseases" RELATED [MESH:D008172]
synonym: "pulmonary fungal infection" RELATED [MESH:D008172]
synonym: "pulmonary fungal infections" RELATED [MESH:D008172]
xref: DOID:11341 {source="MONDO:obsolete", source="EFO:0007278"}
xref: EFO:0007278 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008172 {source="MONDO:equivalentTo", source="EFO:0007278"}
xref: UMLS:C0024116 {source="MEDGEN:6144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="MESH:D008172", source="MONDO:Redundant"} ! fungal infectious disease
is_a: MONDO:0005275 {source="EFO:0007278", source="MESH:D008172", source="MONDO:Redundant"} ! lung disorder
is_a: MONDO:0024355 {source="MESH:D008172", source="MONDO:Redundant"} ! respiratory tract infectious disorder
intersection_of: MONDO:0005275 ! lung disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0005767
name: gas gangrene
def: "A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases." [MESH:D005738]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gas bacillus infection" EXACT [DOID:9159]
synonym: "gas gangrene" EXACT [DOID:9159]
synonym: "myonecrosis" EXACT [DOID:9159]
xref: DOID:9159 {source="EFO:0007279", source="MONDO:equivalentTo"}
xref: EFO:0007279 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A48.0 {source="MONDO:equivalentTo", source="DOID:9159"}
xref: ICD9:040.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9159"}
xref: MEDGEN:8959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005738 {source="EFO:0007279", source="MONDO:equivalentTo", source="DOID:9159"}
xref: SCTID:186407003 {source="DOID:9159"}
xref: SCTID:186413007 {source="DOID:9159"}
xref: SCTID:276198000 {source="DOID:9159"}
xref: SCTID:80466000 {source="MONDO:equivalentTo", source="DOID:9159"}
xref: UMLS:C0017105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8959"}
is_a: MONDO:0000315 {source="DOID:9159"} ! commensal bacterial infectious disease
is_a: MONDO:0005093 {source="DOID:9159", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0005113 {source="DOID:9159/inferred", source="EFO:0007279", source="MESH:D005738/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
relationship: disease_has_feature HP:0008066 ! Abnormal blistering of the skin
relationship: disease_has_feature HP:0100806 ! Sepsis
relationship: disease_has_infectious_agent NCBITaxon:1502 ! Clostridium perfringens

[Term]
id: MONDO:0005768
name: gastrointestinal tuberculosis
def: "Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area." [MESH:D014385]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tuberculosis of gastrointestinal tract" EXACT [DOID:404]
synonym: "tuberculosis of intestines, peritoneum and mesenteric glands" EXACT [DOID:404]
synonym: "tuberculosis of intestines, peritoneum, and mesenteric glands" EXACT [DOID:404, ICD9CM:014]
xref: DOID:404 {source="MONDO:equivalentTo", source="EFO:0007280"}
xref: EFO:0007280 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:014.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:014.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:014.86 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:52885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014385 {source="DOID:404", source="MONDO:equivalentTo", source="EFO:0007280"}
xref: SCTID:154286002 {source="DOID:404"}
xref: SCTID:186225008 {source="MONDO:equivalentTo"}
xref: SCTID:186228005 {source="DOID:404"}
xref: SCTID:240376003 {source="DOID:404"}
xref: UMLS:C0041312 {source="MEDGEN:52885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system
relationship: disease_has_feature HP:0001824 ! Weight loss
relationship: excluded_subClassOf MONDO:0000369 {source="DOID:404", source="https://orcid.org/0000-0001-5208-3432"} ! abdominal tuberculosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4143" xsd:anyURI

[Term]
id: MONDO:0005769
name: geniculate herpes zoster
def: "A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption." [NCIT:C84763]
subset: gard_rare {source="GARD:7525", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1647"}
subset: ordo_disorder {source="Orphanet:3020"}
subset: orphanet_rare {source="Orphanet:3020"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial nerve palsy due to herpes zoster infection" EXACT [MONDO:0017606]
synonym: "facial nerve palsy due to VZV" EXACT [Orphanet:3020]
synonym: "facial nerve paralysis due to VZV" EXACT [Orphanet:3020]
synonym: "geniculate neuralgia" EXACT [DOID:9210]
synonym: "Herpes zoster auricularis" EXACT [DOID:9210]
synonym: "Herpes Zoster Oticus" EXACT [DOID:9210, MTH:NOCODE, NCIT:C84763]
synonym: "herpetic geniculate ganglionitis" EXACT [DOID:9210]
synonym: "Hunt syndrome (formerly)" RELATED [GARD:0007525]
synonym: "Hunt's syndrome (formerly)" RELATED [GARD:0007525]
synonym: "nervus intermedius neuralgia" EXACT [DOID:9210]
synonym: "Ramsay Hunt Syndrome" EXACT [NORD:1647]
synonym: "Ramsay Hunt syndrome" EXACT [Orphanet:3020]
synonym: "Ramsay Hunt syndrome type 2" RELATED [DOID:9210]
synonym: "Ramsay Hunt syndrome type 2 (formerly)" RELATED [GARD:0007525]
synonym: "Ramsay Hunt syndrome type II" RELATED [DOID:9210]
synonym: "Ramsey Hunt syndrome" EXACT [DOID:9210]
xref: DOID:9210 {source="EFO:0007281", source="MONDO:equivalentTo"}
xref: EFO:0007281 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7525 {source="MONDO:GARD"}
xref: ICD10CM:B02.21 {source="DOID:9210"}
xref: ICD10EXP:B02.2+ {source="Orphanet:3020/ntbt", source="Orphanet:3020"}
xref: ICD10EXP:G53.0* {source="Orphanet:3020/ntbt", source="Orphanet:3020"}
xref: ICD9:053.11 {source="DOID:9210"}
xref: ICD9:351.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016697 {source="EFO:0007281", source="DOID:9210"}
xref: NCIT:C84763 {source="MONDO:equivalentTo", source="DOID:9210"}
xref: NORD:1647 {source="MONDO:NORD"}
xref: Orphanet:3020 {source="MONDO:equivalentTo"}
xref: SCTID:154330004 {source="DOID:9210"}
xref: SCTID:186518000 {source="DOID:9210"}
xref: SCTID:186529001 {source="DOID:9210"}
xref: SCTID:21954000 {source="DOID:9210"}
xref: SCTID:95670000 {source="MONDO:equivalentTo"}
xref: UMLS:C0017409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6581"}
is_a: MONDO:0005108 {source="Orphanet:3020"} ! viral infectious disease
is_a: MONDO:0005609 {source="EFO:0007281"} ! herpes zoster
is_a: MONDO:0021666 {source="NCIT:C84763"} ! ear infection
intersection_of: MONDO:0006496 ! palsy
intersection_of: disease_has_location UBERON:0001647 ! facial nerve
intersection_of: MONDO:0100332 NCBITaxon:10335 ! disease has primary infectious agent Human alphaherpesvirus 3
relationship: disease_has_feature HP:0000360 ! Tinnitus
relationship: disease_has_feature HP:0002321 ! Vertigo
relationship: disease_has_feature HP:0003470 ! Paralysis
relationship: disease_has_infectious_agent NCBITaxon:10335 ! Human alphaherpesvirus 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4637" xsd:anyURI

[Term]
id: MONDO:0005770
name: genital herpes
def: "Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus." [NCIT:C14364]
subset: otar {source="MONDO:OTAR"}
synonym: "genital herpes simplex" EXACT [DOID:8704]
synonym: "herpes genitalia" EXACT [DOID:8704, MTH:363]
synonym: "herpes genitalis" EXACT [DOID:8704, MTH:328]
synonym: "venereal herpes" EXACT [DOID:8704]
synonym: "virus-genital herpes" EXACT [DOID:8704, NCIT:C14364]
xref: DOID:8704 {source="MONDO:equivalentTo", source="EFO:0007282"}
xref: EFO:0007282 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:054.1 {source="DOID:8704"}
xref: ICD9:054.10 {source="MONDO:equivalentTo", source="DOID:8704", source="MONDO:i2s"}
xref: ICD9:054.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:42436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006558 {source="MONDO:equivalentTo", source="DOID:8704", source="EFO:0007282"}
xref: NCIT:C14364 {source="MONDO:equivalentTo", source="DOID:8704"}
xref: SCTID:154333002 {source="DOID:8704"}
xref: SCTID:186536000 {source="DOID:8704"}
xref: SCTID:186539007 {source="DOID:8704"}
xref: SCTID:271463009 {source="DOID:8704"}
xref: SCTID:33839006 {source="MONDO:equivalentTo", source="DOID:8704"}
xref: UMLS:C0019342 {source="MEDGEN:42436", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004609 {source="DOID:8704", source="MESH:D006558", source="MONDO:Redundant"} ! herpes simplex infectious disease
is_a: MONDO:0005108 {source="DOID:8704/inferred", source="EFO:0007282", source="MESH:D006558/inferred", source="MONDO:Redundant", source="NCIT:C14364"} ! viral infectious disease
is_a: MONDO:0021682 {source="MESH:D006558"} ! viral sexually transmitted disease
intersection_of: MONDO:0004609 ! herpes simplex infectious disease
intersection_of: disease_has_location UBERON:0000990 ! reproductive system
intersection_of: MONDO:0100333 NCBITaxon:10294 ! disease caused by reactivation of latent infectious agent Simplexvirus
relationship: disease_has_infectious_agent NCBITaxon:10294 ! Simplexvirus
relationship: excluded_subClassOf MONDO:0003150 {source="MESH:D006558", source="MESH:D006558/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! male reproductive system disorder
relationship: MONDO:0100333 NCBITaxon:10294 {source="https://orcid.org/0000-0001-5208-3432"} ! disease caused by reactivation of latent infectious agent Simplexvirus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3348" xsd:anyURI

[Term]
id: MONDO:0005771
name: geographic tongue
def: "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "benign migratory glossitis" EXACT [DOID:1455]
synonym: "glossitis areata exfoliativa" EXACT [DOID:1455]
synonym: "Pityriasis linguae" EXACT [DOID:1455]
xref: DOID:1455 {source="MONDO:equivalentTo", source="EFO:0007283"}
xref: EFO:0007283 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K14.1 {source="MONDO:equivalentTo", source="DOID:1455"}
xref: ICD9:529.1 {source="MONDO:equivalentTo", source="DOID:1455", source="MONDO:i2s"}
xref: MEDGEN:6619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005929 {source="DOID:1455", source="EFO:0007283"}
xref: NCIT:C84588 {source="MONDO:equivalentTo", source="DOID:1455"}
xref: SCTID:155667007 {source="DOID:1455"}
xref: SCTID:266496009 {source="DOID:1455"}
xref: SCTID:59032001 {source="MONDO:equivalentTo", source="DOID:1455"}
xref: UMLS:C0017677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6619"}
is_a: MONDO:0001989 {source="DOID:1455"} ! atrophic glossitis

[Term]
id: MONDO:0005772
name: geotrichosis
def: "Infection due to the fungus Geotrichum." [MESH:D005847]
xref: DOID:2832 {source="MONDO:equivalentTo", source="EFO:0007284"}
xref: ICD10CM:B48.3 {source="MONDO:equivalentTo", source="DOID:2832"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:42202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005847 {source="MONDO:equivalentTo", source="DOID:2832", source="EFO:0007284"}
xref: SCTID:13969006 {source="MONDO:equivalentTo", source="DOID:2832"}
xref: SCTID:187105008 {source="DOID:2832"}
xref: UMLS:C0017455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42202"}
is_a: MONDO:0002312 {source="DOID:2832"} ! opportunistic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1173061 ! Geotrichum candidum
relationship: excluded_subClassOf MONDO:0005046 {source="EFO:0007284", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder

[Term]
id: MONDO:0005773
name: Gerstmann syndrome
def: "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe." [Orphanet:221117]
subset: gard_rare {source="GARD:8660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1180"}
subset: ordo_disorder {source="Orphanet:221117"}
subset: orphanet_rare {source="Orphanet:221117"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aphasia-angular gyrus syndrome" EXACT [DOID:4969]
synonym: "developmental Gerstmann syndrome" RELATED [GARD:0008660]
synonym: "Gerstmann Badal syndrome" RELATED [GARD:0008660]
synonym: "Gerstmann tetrad" RELATED [GARD:0008660]
synonym: "GS" RELATED ABBREVIATION [GARD:0008660]
xref: DOID:4969 {source="MONDO:equivalentTo", source="EFO:0007285"}
xref: EFO:0007285 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8660 {source="MONDO:GARD"}
xref: ICD10CM:F81.2 {source="Orphanet:221117", source="Orphanet:221117/ntbt"}
xref: icd11.foundation:1121787098 {source="MONDO:equivalentTo", source="Orphanet:221117"}
xref: ICD9:784.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048608 {source="Orphanet:221117", source="DOID:4969", source="Orphanet:221117/e"}
xref: MEDGEN:42208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005862 {source="MONDO:equivalentTo", source="Orphanet:221117", source="DOID:4969", source="EFO:0007285", source="Orphanet:221117/e"}
xref: NORD:1180 {source="MONDO:NORD"}
xref: Orphanet:221117 {source="MONDO:equivalentTo", source="DOID:4969"}
xref: SCTID:36785009 {source="MONDO:equivalentTo", source="DOID:4969"}
xref: UMLS:C0017494 {source="MEDGEN:42208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="Orphanet:221117"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome" xsd:anyURI {source="GARD:0008660"}

[Term]
id: MONDO:0005774
name: glanders
def: "A condition resulting from infection by Burkholderia mallei, which mainly affects horses." [NCIT:P378]
subset: ordo_disorder {source="Orphanet:659908"}
subset: orphanet_rare {source="Orphanet:659908"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Burkholderia mallei" RELATED [GARD:0009536]
synonym: "Burkholderia mallei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Burkholderia mallei disease or disorder" EXACT []
synonym: "Burkholderia mallei infection" RELATED [GARD:0009536]
synonym: "Burkholderia mallei infectious disease" EXACT []
synonym: "farcy pipes" EXACT [DOID:13444]
synonym: "infection due to Pseudomonas mallei" EXACT [DOID:13444]
xref: DOID:13444 {source="MONDO:equivalentTo", source="EFO:0007286"}
xref: EFO:0007286 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A24.0 {source="MONDO:equivalentTo", source="DOID:13444"}
xref: ICD9:024 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13444"}
xref: MEDGEN:42221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005896 {source="MONDO:equivalentTo", source="DOID:13444", source="EFO:0007286"}
xref: NCIT:C34638 {source="MONDO:equivalentTo", source="DOID:13444"}
xref: Orphanet:659908 {source="MONDO:equivalentTo"}
xref: SCTID:35322000 {source="DOID:13444"}
xref: SCTID:4639008 {source="MONDO:equivalentTo", source="DOID:13444"}
xref: UMLS:C0017589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42221"}
is_a: MONDO:0000314 {source="DOID:13444"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:13444/inferred", source="EFO:0007286", source="MESH:D005896/inferred", source="MONDO:Redundant", source="NCIT:C34638"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:13373 ! Burkholderia mallei
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9536/glanders" xsd:anyURI {source="GARD:0009536"}

[Term]
id: MONDO:0005775
name: G6PD deficiency
def: "An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." [https://www.clinicalgenome.org/affiliation/50147/]
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency of G-6PD" EXACT [DOID:2862]
synonym: "G-6-PD variant enzyme deficiency Anaemia" EXACT OMO:0003005 []
synonym: "G-6-PD variant enzyme deficiency Anemia" EXACT [NCIT:C98933]
synonym: "G6PD" EXACT ABBREVIATION [NCIT:C98933]
synonym: "G6PD deficiency" EXACT [NCIT:C98933]
synonym: "glucose-6-phosphate dehydrogenase deficiency" EXACT [DOID:2862]
synonym: "glucosephosphate dehydrogenase deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/1117]
synonym: "inborn error of glucose-6-phosphate dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glucose-6-phosphate dehydrogenase activity disorder" EXACT []
synonym: "rare inborn error of glucose-6-phosphate dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:2862 {source="MONDO:equivalentTo", source="EFO:0007287"}
xref: EFO:0007287 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:473706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005955 {source="DOID:2862", source="MONDO:equivalentTo", source="EFO:0007287"}
xref: NANDO:2200627 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98933 {source="DOID:2862", source="MONDO:equivalentTo"}
xref: SCTID:124134002 {source="DOID:2862"}
xref: SCTID:154738008 {source="DOID:2862"}
xref: SCTID:267498002 {source="DOID:2862"}
xref: SCTID:62403005 {source="DOID:2862", source="MONDO:equivalentTo"}
xref: UMLS:C2939465 {source="MEDGEN:473706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="DOID:2862/inferred", source="MESH:D005955/inferred", source="MONDO:Redundant", source="NCIT:C98933"} ! inborn errors of metabolism
is_a: MONDO:0019214 {source="DOID:2862", source="EFO:0007287", source="MESH:D005955"} ! inborn carbohydrate metabolic disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0004345 ! glucose-6-phosphate dehydrogenase activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6252" xsd:anyURI

[Term]
id: MONDO:0005776
name: gnathomiasis
def: "An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia)." [NCIT:C128395]
subset: otar {source="MONDO:OTAR"}
synonym: "Gnathostoma infection" RELATED [GARD:0009286]
synonym: "Gnathostomiasis" EXACT [DOID:11379, ICD9CM:128.1]
synonym: "infectious disease by Gnathostoma" EXACT [DOID:11379]
xref: DOID:11379 {source="MONDO:equivalentTo", source="EFO:0007289"}
xref: EFO:0007289 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B83.1 {source="DOID:11379", source="MONDO:equivalentTo"}
xref: ICD9:128.1 {source="DOID:11379", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058429 {source="DOID:11379", source="MONDO:equivalentTo", source="EFO:0007289"}
xref: NCIT:C128395 {source="MONDO:equivalentTo"}
xref: SCTID:44086001 {source="DOID:11379", source="MONDO:equivalentTo"}
xref: UMLS:C0018013 {source="MEDGEN:6651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:11379", source="ICD10CM:B83.1/inferred", source="MESH:D058429/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:11379/inferred", source="EFO:0007289", source="MESH:D058429/inferred", source="MONDO:Redundant", source="NCIT:C128395"} ! parasitic infectious disease

[Term]
id: MONDO:0005777
name: granuloma inguinale
def: "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "donovanosis" EXACT [DOID:9113]
synonym: "granuloma inguinale" EXACT [DOID:9113, NCIT:C3065]
synonym: "pudendal ulcer" EXACT [DOID:9113]
xref: DOID:9113 {source="MONDO:equivalentTo", source="EFO:0007291"}
xref: EFO:0007291 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A58 {source="MONDO:equivalentTo", source="DOID:9113"}
xref: ICD9:099.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9113"}
xref: MEDGEN:42291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006100 {source="MONDO:equivalentTo", source="EFO:0007291", source="DOID:9113"}
xref: NCIT:C3065 {source="MONDO:equivalentTo", source="DOID:9113"}
xref: SCTID:186947000 {source="DOID:9113"}
xref: SCTID:28867007 {source="MONDO:equivalentTo", source="DOID:9113"}
xref: UMLS:C0018190 {source="MEDGEN:42291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:9113"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:9113/inferred", source="EFO:0007291", source="MESH:D006100/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0005323 {source="MESH:D006100"} ! bacterial sexually transmitted disease
is_a: MONDO:0005550 {source="DOID:9113/inferred", source="EFO:0007291/inferred", source="ICD10CM:A58/inferred", source="MONDO:Redundant", source="NCIT:C3065"} ! infectious disease
relationship: disease_has_feature HP:0003249 ! Genital ulcers
relationship: disease_has_infectious_agent NCBITaxon:39824 {source="MONDO:Wikidata"} ! Klebsiella granulomatis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9532/granuloma-inguinale" xsd:anyURI {source="GARD:0009532"}

[Term]
id: MONDO:0005778
name: haemonchiasis
def: "Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation." [MESH:D006188]
xref: DOID:3332 {source="MONDO:equivalentTo", source="EFO:0007293"}
xref: MEDGEN:42320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006188 {source="DOID:3332", source="MONDO:equivalentTo", source="EFO:0007293"}
xref: UMLS:C0018477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42320"}
is_a: MONDO:0005994 {source="DOID:3332", source="MESH:D006188"} ! trichostrongyloidiasis

[Term]
id: MONDO:0005779
name: hand, foot and mouth disease
def: "A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks." [NCIT:C128439]
subset: otar {source="MONDO:OTAR"}
synonym: "hand foot and mouth disease" EXACT [NCIT:C128439]
synonym: "hand, foot, and mouth disease" EXACT [NCIT:C128439]
synonym: "HFMD" EXACT ABBREVIATION [NCIT:C128439]
synonym: "vesicular stomatitis and exanthem" EXACT [DOID:10881]
xref: DOID:10881 {source="MONDO:equivalentTo", source="EFO:0007294"}
xref: EFO:0007294 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B08.4 {source="DOID:10881"}
xref: ICD9:074.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10881"}
xref: MEDGEN:42330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006232 {source="MONDO:equivalentTo", source="EFO:0007294", source="DOID:10881"}
xref: NCIT:C128439 {source="MONDO:equivalentTo"}
xref: SCTID:154357002 {source="DOID:10881"}
xref: SCTID:175497008 {source="DOID:10881"}
xref: SCTID:186664000 {source="DOID:10881"}
xref: SCTID:266108008 {source="MONDO:equivalentTo", source="DOID:10881"}
xref: SCTID:67171006 {source="DOID:10881"}
xref: UMLS:C0018572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42330"}
is_a: MONDO:0005093 {source="DOID:10881", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0005108 {source="DOID:10881", source="EFO:0007294", source="MESH:D006232/inferred", source="MONDO:Redundant", source="NCIT:C128439"} ! viral infectious disease
is_a: MONDO:0005721 {source="UMLS:C0018572"} ! coxsackievirus infectious disease
relationship: disease_has_feature HP:0000988 ! Skin rash
relationship: disease_has_infectious_agent NCBITaxon:31704 ! Coxsackievirus A16
relationship: disease_has_infectious_agent NCBITaxon:39054 ! Enterovirus A71
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3205" xsd:anyURI

[Term]
id: MONDO:0005780
name: hantavirus infectious disease
alt_id: MONDO:0042492
def: "Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome." [NCIT:C3899]
subset: otar {source="MONDO:OTAR"}
synonym: "disease caused by hantavirus" RELATED []
synonym: "disease due to hantavirus" EXACT []
synonym: "Hantavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hantavirus disease or disorder" EXACT []
synonym: "Hantavirus infection" EXACT [MESH:D018778, NCIT:C3899]
synonym: "Hantavirus infectious disease" EXACT []
synonym: "infections, Hantavirus" RELATED [MESH:D018778]
xref: DOID:2880 {source="MONDO:obsolete", source="EFO:0007295"}
xref: EFO:0007295 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:079.81
xref: MEDGEN:67028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018778 {source="MONDO:equivalentTo", source="EFO:0007295"}
xref: NCIT:C3899 {source="MONDO:equivalentTo"}
xref: SCTID:359761005 {source="MONDO:equivalentTo"}
xref: UMLS:C0242994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67028"}
is_a: MONDO:0005108 {source="EFO:0007295", source="MESH:D018778/inferred", source="MONDO:Redundant", source="NCIT:C3899"} ! viral infectious disease
is_a: MONDO:0021641 {source="MESH:D018778", source="MONDO:Redundant"} ! Bunyaviridae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:1980442 ! disease has primary infectious agent Orthohantavirus

[Term]
id: MONDO:0005781
name: obsolete hantavirus pulmonary syndrome
is_obsolete: true
replaced_by: MONDO:0017879

[Term]
id: MONDO:0005782
name: obsolete HELLP syndrome
is_obsolete: true
replaced_by: MONDO:0008585

[Term]
id: MONDO:0005783
name: hemopericardium
def: "An accumulation of blood within the pericardial sac." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "haemopericardium" EXACT [DOID:11482]
synonym: "hemopericardium" EXACT [MONDO:ambiguous]
synonym: "hemopericardium (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11482 {source="MONDO:equivalentTo", source="EFO:0007298"}
xref: EFO:0007298 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0011851 {source="MONDO:otherHierarchy"}
xref: ICD9:423.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11482"}
xref: MEDGEN:6795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010490 {source="DOID:11482", source="EFO:0007298"}
xref: NCIT:C111644 {source="MONDO:otherHierarchy", source="DOID:11482"}
xref: SCTID:155339006 {source="DOID:11482"}
xref: SCTID:23412002 {source="MONDO:equivalentTo", source="DOID:11482"}
xref: UMLS:C0019064 {source="MEDGEN:6795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001370 {source="DOID:11482"} ! pericardial effusion
is_a: MONDO:0005267 {source="EFO:0007298"} ! heart disorder
property_value: IAO:0000589 "hemopericardium (disease)" xsd:string

[Term]
id: MONDO:0005784
name: hantavirus hemorrhagic fever with renal syndrome
def: "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hemorrhagic fever with renal syndrome" RELATED [DOID:11266]
synonym: "hemorrhagic fever, Russian" NARROW [DOID:11266]
synonym: "hemorrhagic nephrosonephritis" EXACT [DOID:11266, ICD9CM:078.6]
synonym: "HFRS" EXACT ABBREVIATION [DOID:11266, Wikipedia:Hantavirus_hemorrhagic_fever_with_renal_syndrome]
synonym: "Puumala virus nephropathy" NARROW [DOID:11266]
xref: DOID:11266 {source="MONDO:equivalentTo", source="EFO:0007299"}
xref: ICD10CM:A98.5 {source="MONDO:equivalentTo", source="DOID:11266"}
xref: ICD9:078.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11266"}
xref: MESH:D006480 {source="DOID:11266", source="EFO:0007299"}
xref: NCIT:C84753 {source="MONDO:equivalentTo", source="DOID:11266"}
xref: SCTID:102455002 {source="MONDO:equivalentTo", source="DOID:11266"}
xref: SCTID:186701001 {source="DOID:11266"}
xref: SCTID:70826003 {source="DOID:11266"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0002113 ! kidney
intersection_of: MONDO:0100332 NCBITaxon:1980442 ! disease has primary infectious agent Orthohantavirus

[Term]
id: MONDO:0005785
name: henipavirus infectious disease
def: "Infections with viruses of the genus henipavirus, family paramyxoviridae." [MESH:D045464]
subset: otar {source="MONDO:OTAR"}
synonym: "Henipavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Henipavirus disease or disorder" EXACT []
synonym: "Henipavirus infectious disease" EXACT []
xref: DOID:4393 {source="MONDO:obsolete", source="EFO:0007300"}
xref: EFO:0007300 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D045464 {source="MONDO:equivalentTo", source="EFO:0007300"}
is_a: MONDO:0005108 {source="EFO:0007300", source="MESH:D045464/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:260964 ! disease has primary infectious agent Henipavirus

[Term]
id: MONDO:0005786
name: Hepadnaviridae infectious disease
def: "Virus diseases caused by the hepadnaviridae." [MESH:D018347]
synonym: "Hepadnaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepadnaviridae disease or disorder" EXACT []
xref: DOID:5497 {source="EFO:0007301", source="MONDO:obsolete"}
xref: MEDGEN:64649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018347 {source="EFO:0007301", source="MONDO:equivalentTo"}
xref: UMLS:C0206746 {source="MONDO:equivalentTo", source="MEDGEN:64649", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007301", source="MESH:D018347/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10404 ! disease has primary infectious agent Hepadnaviridae

[Term]
id: MONDO:0005787
name: hepatic tuberculosis
def: "Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests." [MESH:D014386]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tuberculosis of liver" EXACT [DOID:407]
xref: DOID:407 {source="EFO:0007302", source="MONDO:equivalentTo"}
xref: EFO:0007302 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014386 {source="EFO:0007302", source="MONDO:equivalentTo", source="DOID:407"}
xref: SCTID:186273003 {source="MONDO:equivalentTo", source="DOID:407"}
xref: UMLS:C0041313 {source="MEDGEN:11944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005768 {source="DOID:407", source="EFO:0007302"} ! gastrointestinal tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_inflammation_site UBERON:0002107 ! liver
relationship: disease_has_feature HP:0000952 ! Jaundice
relationship: disease_has_feature HP:0001824 ! Weight loss

[Term]
id: MONDO:0005788
name: hepatitis E virus infection
def: "Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission." [MESH:D016751]
subset: otar {source="MONDO:OTAR"}
synonym: "Hepatitis E virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepatitis E virus hepatitis" EXACT []
synonym: "hepatitis type E" EXACT [DOID:4411, EFO:0007303, MONDORULE:1]
xref: DOID:4411 {source="EFO:0007303", source="MONDO:equivalentTo"}
xref: EFO:0007303 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:88376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016751 {source="DOID:4411", source="EFO:0007303", source="MONDO:equivalentTo"}
xref: SCTID:7111000119109 {source="DOID:4411", source="MONDO:equivalentTo"}
xref: UMLS:C0085293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88376"}
is_a: MONDO:0006011 {source="EFO:0007303", source="MESH:D016751", source="MONDO:Redundant"} ! viral hepatitis
intersection_of: MONDO:0002251 ! hepatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12461 ! disease has primary infectious agent
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:4411", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9541/hepatitis-e" xsd:anyURI {source="GARD:0009541"}

[Term]
id: MONDO:0005789
name: hepatitis D virus infection
def: "Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." [MESH:D003699]
subset: gard_rare {source="GARD:21716", source="MONDO:GARD"}
subset: nord_rare {source="NORD:2020", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402823"}
subset: orphanet_rare {source="Orphanet:402823"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "delta hepatitis" EXACT [DOID:2047]
synonym: "HDV" EXACT ABBREVIATION [Orphanet:402823]
synonym: "Hepatitis D" EXACT [NORD:2020]
synonym: "Hepatitis D virus" EXACT [Orphanet:402823]
synonym: "hepatitis delta" EXACT [MONDO:0018441]
synonym: "Hepatitis delta virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hepatitis delta virus hepatitis" EXACT []
synonym: "hepatitis type D" EXACT [DOID:2047, EFO:0007304, MONDORULE:1]
xref: DOID:2047 {source="EFO:0007304", source="MONDO:equivalentTo"}
xref: EFO:0007304 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21716 {source="MONDO:GARD"}
xref: ICD10CM:B17.0 {source="Orphanet:402823", source="Orphanet:402823/e"}
xref: ICD9:070.52 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003699 {source="EFO:0007304", source="DOID:2047", source="MONDO:equivalentTo"}
xref: NORD:2020 {source="MONDO:NORD"}
xref: Orphanet:402823 {source="MONDO:equivalentTo"}
xref: SCTID:424460009 {source="DOID:2047"}
xref: SCTID:707341005 {source="DOID:2047", source="MONDO:equivalentTo"}
xref: UMLS:C0011226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4182"}
is_a: MONDO:0005108 {source="MONDO:Redundant", source="Orphanet:402823"} ! viral infectious disease
is_a: MONDO:0005154 {source="MONDO:Redundant", source="Orphanet:402823"} ! liver disorder
intersection_of: MONDO:0002251 ! hepatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12475 ! disease has primary infectious agent Hepatitis delta virus
relationship: disease_arises_from_feature MONDO:0005344 ! hepatitis B virus infection
relationship: disease_has_infectious_agent NCBITaxon:10407 ! Hepatitis B virus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576", source="MONDO:0018928"} ! rare

[Term]
id: MONDO:0005790
name: hepatitis A virus infection
def: "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Hepatitis A" EXACT [NCIT:C3096]
synonym: "Hepatitis A infection" EXACT [NCIT:C3096]
synonym: "hepatitis type A" EXACT [DOID:12549, EFO:0007305, MONDORULE:1]
synonym: "viral hepatitis A" RELATED [DOID:12549]
synonym: "viral hepatitis, type A" EXACT [DOID:12549]
xref: DOID:12549 {source="EFO:0007305", source="MONDO:equivalentTo"}
xref: EFO:0007305 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:42418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006506 {source="DOID:12549", source="EFO:0007305", source="MONDO:equivalentTo"}
xref: NCIT:C3096 {source="DOID:12549", source="MONDO:equivalentTo"}
xref: SCTID:154347003 {source="DOID:12549"}
xref: SCTID:40468003 {source="DOID:12549", source="MONDO:equivalentTo"}
xref: UMLS:C0019159 {source="MONDO:equivalentTo", source="MEDGEN:42418", source="MONDO:MEDGEN"}
is_a: MONDO:0006011 {source="EFO:0007305", source="MESH:D006506", source="MONDO:Redundant", source="NCIT:C3096"} ! viral hepatitis
relationship: disease_has_feature HP:0000952 ! Jaundice
relationship: disease_has_feature HP:0002829 ! Arthralgia
relationship: disease_has_infectious_agent NCBITaxon:12092 ! Hepatovirus A
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:12549", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0005791
name: herpangina
def: "A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." [DOID:10883, http://emedicine.medscape.com/article/218502-overview, http://en.wikipedia.org/wiki/Herpangina, http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm]
subset: otar {source="MONDO:OTAR"}
synonym: "vesicular pharyngitis" EXACT [DOID:10883]
xref: DOID:10883 {source="EFO:0007306", source="MONDO:equivalentTo"}
xref: EFO:0007306 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B08.5 {source="DOID:10883"}
xref: ICD9:074.0 {source="DOID:10883"}
xref: MEDGEN:42435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006557 {source="EFO:0007306", source="MONDO:equivalentTo", source="DOID:10883"}
xref: SCTID:154358007 {source="DOID:10883"}
xref: SCTID:186659004 {source="DOID:10883"}
xref: SCTID:266197009 {source="DOID:10883"}
xref: SCTID:274102007 {source="MONDO:equivalentTo", source="DOID:10883"}
xref: SCTID:37428001 {source="DOID:10883"}
xref: UMLS:C0019338 {source="MEDGEN:42435", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:10883", source="EFO:0007306", source="MESH:D006557/inferred", source="MONDO:Redundant"} ! viral infectious disease
relationship: disease_has_infectious_agent NCBITaxon:12066 ! Coxsackievirus
relationship: disease_has_infectious_agent NCBITaxon:31704 ! Coxsackievirus A16
relationship: disease_has_infectious_agent NCBITaxon:39054 ! Enterovirus A71

[Term]
id: MONDO:0005792
name: herpes simplex virus gingivostomatitis
def: "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents." [MESH:D013283]
subset: otar {source="MONDO:OTAR"}
synonym: "Gingivostomatitides, herpetic" RELATED [MESH:D013283]
synonym: "Gingivostomatitis, herpetic" RELATED [MESH:D013283]
synonym: "Herpes simplex, oral" RELATED [MESH:D013283]
synonym: "herpetic Gingivostomatitides" RELATED [MESH:D013283]
synonym: "herpetic Gingivostomatitis" RELATED [MESH:D013283]
synonym: "herpetic Stomatitides" RELATED [MESH:D013283]
synonym: "herpetic stomatitis" RELATED [MESH:D013283]
synonym: "oral Herpes simplex" RELATED [MESH:D013283]
synonym: "simplex, oral Herpes" RELATED [MESH:D013283]
synonym: "Simplexvirus caused stomatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus stomatitis" EXACT []
synonym: "Stomatitides, herpetic" RELATED [MESH:D013283]
xref: DOID:9059 {source="EFO:0007307", source="MONDO:obsolete"}
xref: EFO:0007307 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D013283 {source="MONDO:equivalentTo", source="EFO:0007307"}
xref: SCTID:57920007 {source="MONDO:equivalentTo"}
is_a: MONDO:0004609 {source="EFO:0007307", source="MESH:D013283", source="MONDO:Redundant"} ! herpes simplex infectious disease
is_a: MONDO:0004842 {source="MESH:D013283", source="MONDO:Redundant"} ! stomatitis
intersection_of: MONDO:0004842 ! stomatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10294 ! disease has primary infectious agent Simplexvirus

[Term]
id: MONDO:0005793
name: obsolete herpes simplex virus keratitis
is_obsolete: true
replaced_by: MONDO:0015288

[Term]
id: MONDO:0005794
name: Herpesviridae infectious disease
def: "Virus diseases caused by the herpesviridae." [MESH:D006566]
subset: otar {source="MONDO:OTAR"}
synonym: "herpes infection" RELATED []
synonym: "Herpesviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Herpesviridae disease or disorder" EXACT []
synonym: "Herpesviridae infection" RELATED [MESH:D006566]
synonym: "Herpesviridae infections" EXACT [MONDO:0024460]
synonym: "Herpesvirus infection" RELATED [MESH:D006566]
synonym: "herpesvirus infection" EXACT []
synonym: "Herpesvirus infections" RELATED [MESH:D006566]
synonym: "infection, Herpesviridae" RELATED [MESH:D006566]
synonym: "infection, Herpesvirus" RELATED [MESH:D006566]
synonym: "infections, Herpesviridae" RELATED [MESH:D006566]
synonym: "infections, Herpesvirus" RELATED [MESH:D006566]
xref: DOID:2939 {source="EFO:0007309", source="MONDO:obsolete"}
xref: EFO:0007309 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B10-B10 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D006566 {source="MONDO:equivalentTo", source="EFO:0007309"}
xref: SCTID:23513009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007309", source="MESH:D006566/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10292 ! disease has primary infectious agent Herpesviridae

[Term]
id: MONDO:0005795
name: obsolete histoplasmosis
is_obsolete: true
replaced_by: MONDO:0018312

[Term]
id: MONDO:0005796
name: HIV enteropathy
def: "A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)" [MESH:D019053]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13251 {source="MONDO:obsolete", source="EFO:0007311"}
xref: EFO:0007311 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019053 {source="MONDO:equivalentTo", source="EFO:0007311"}
xref: UMLS:C0282616 {source="MEDGEN:79492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0024571 ! AIDS-related disorder
intersection_of: disease_has_feature MONDO:0005020 ! intestinal disorder
relationship: excluded_subClassOf MONDO:0005020 {source="MESH:D019053", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder
relationship: excluded_subClassOf MONDO:0005109 {source="EFO:0007311", source="MESH:D019053", source="https://orcid.org/0000-0001-5208-3432"} ! HIV infectious disease

[Term]
id: MONDO:0005797
name: HIV wasting syndrome
def: "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)." [MESH:D019247]
subset: gard_rare {source="GARD:19122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90081"}
subset: orphanet_rare {source="Orphanet:90081"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:1313 {source="EFO:0007312", source="MONDO:obsolete"}
xref: EFO:0007312 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19122 {source="MONDO:GARD"}
xref: MEDGEN:87476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019247 {source="EFO:0007312", source="MONDO:equivalentTo"}
xref: Orphanet:90081 {source="MONDO:equivalentTo"}
xref: UMLS:C0343755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87476"}
is_a: MONDO:0005109 {source="EFO:0007312", source="MESH:D019247"} ! HIV infectious disease
intersection_of: MONDO:0024571 ! AIDS-related disorder
intersection_of: disease_has_feature HP:0004326 ! Cachexia

[Term]
id: MONDO:0005798
name: HIV-associated nephropathy
def: "Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings." [NCIT:C26918]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIDS-associated nephropathy" EXACT [NCIT:C26918]
synonym: "AIDS-related nephropathy" EXACT [NCIT:C26918]
synonym: "HIV nephropathy" EXACT [NCIT:C26918]
synonym: "HIVAN" EXACT ABBREVIATION [NCIT:C26918]
xref: DOID:1311 {source="EFO:0007313", source="MONDO:obsolete"}
xref: EFO:0007313 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:37145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016263 {source="EFO:0007313", source="MONDO:equivalentTo"}
xref: NCIT:C26918 {source="MONDO:equivalentTo"}
xref: UMLS:C0078911 {source="MEDGEN:37145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005363 {source="NCIT:C26918"} ! inherited focal segmental glomerulosclerosis
intersection_of: MONDO:0024571 ! AIDS-related disorder
intersection_of: disease_has_feature MONDO:0005240 ! kidney disorder
relationship: excluded_subClassOf MONDO:0005108 {source="EFO:0007313", source="MESH:D016263/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! viral infectious disease
relationship: excluded_subClassOf MONDO:0005109 {source="MESH:D016263", source="https://orcid.org/0000-0001-5208-3432"} ! HIV infectious disease
relationship: excluded_subClassOf MONDO:0005240 {source="MESH:D016263", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder

[Term]
id: MONDO:0005799
name: hookworm infectious disease
def: "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available." [MESH:D006725]
comment: Editor note: TODO
subset: otar {source="MONDO:OTAR"}
synonym: "Bunostomiases" RELATED [MESH:D006725]
synonym: "Bunostomiasis" RELATED [MESH:D006725]
synonym: "hookworm infection" RELATED [MESH:D006725]
synonym: "infection, hookworm" RELATED [MESH:D006725]
synonym: "infections, hookworm" RELATED [MESH:D006725]
xref: DOID:2791 {source="EFO:0007314", source="MONDO:obsolete"}
xref: EFO:0007314 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D006725 {source="EFO:0007314"}
is_a: MONDO:0005550 {source="EFO:0007314"} ! infectious disease

[Term]
id: MONDO:0005800
name: hordeolum
def: "An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess." [https://www.merckmanuals.com/professional/eye-disorders/eyelid-and-lacrimal-disorders/chalazion-and-hordeolum-stye]
synonym: "blepharitis of eyelid gland" EXACT [MONDO:design_pattern]
synonym: "boil of eyelid" EXACT [DOID:9909]
synonym: "eyelid gland blepharitis" EXACT [MONDO:patterns/location]
synonym: "furuncle of eyelid" EXACT [DOID:9909]
synonym: "Stye" EXACT [DOID:9909, NCIT:C118722]
xref: DOID:9909 {source="EFO:0007315", source="MONDO:equivalentTo"}
xref: ICD10CM:H00.01 {source="DOID:9909"}
xref: MEDGEN:6884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006726 {source="EFO:0007315", source="MONDO:equivalentTo", source="DOID:9909"}
xref: NCIT:C118722 {source="MONDO:equivalentTo", source="DOID:9909"}
xref: SCTID:1489008 {source="DOID:9909"}
xref: SCTID:155172004 {source="DOID:9909"}
xref: SCTID:193912000 {source="DOID:9909"}
xref: SCTID:267736000 {source="DOID:9909"}
xref: SCTID:397513003 {source="MONDO:equivalentTo", source="DOID:9909"}
xref: SCTID:74612003 {source="DOID:9909"}
xref: UMLS:C0019917 {source="MEDGEN:6884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003382 {source="DOID:9909", source="MESH:D006726", source="MONDO:Redundant"} ! eyelid disorder
is_a: MONDO:0005093 {source="DOID:9909"} ! skin disorder
intersection_of: MONDO:0004785 ! blepharitis
intersection_of: disease_has_location UBERON:0013229 ! eyelid gland
relationship: disease_has_feature HP:0010606 ! Hordeolum
relationship: disease_has_feature MONDO:0004785 ! blepharitis
relationship: disease_has_infectious_agent NCBITaxon:1280 {source="MONDO:Wikidata"} ! Staphylococcus aureus

[Term]
id: MONDO:0005801
name: human T-lymphotropic virus 1 infectious disease
def: "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." [EFO:0007316]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HTLV-1" RELATED [GARD:0009645]
synonym: "Human T lymphotropic virus type 1" RELATED [GARD:0009645]
synonym: "Human T-lymphotropic virus 1 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human T-lymphotropic virus 1 disease or disorder" EXACT []
synonym: "Human T-lymphotropic virus 1 infectious disease" EXACT []
synonym: "human T-lymphotropic virus 1 infectious disease" EXACT []
xref: DOID:323 {source="EFO:0007316", source="MONDO:obsolete"}
xref: EFO:0007316 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015490 {source="EFO:0007316", source="MONDO:equivalentTo"}
xref: UMLS:C0020097 {source="MEDGEN:6919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007316", source="MESH:D015490/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:11908 ! Human T-cell leukemia virus type I

[Term]
id: MONDO:0005802
name: hymenolepiasis
def: "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability." [NCIT:C84768]
subset: gard_rare {source="GARD:2787", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401"}
subset: orphanet_rare {source="Orphanet:401"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dwarf tapeworm infection" EXACT [DOID:10074]
synonym: "hymenolepiasis" EXACT [NCIT:C84768]
synonym: "Hymenolepis infectious disease" EXACT [DOID:10074]
synonym: "Hymenolepsis infection" RELATED [GARD:0002787]
xref: DOID:10074 {source="EFO:0007317", source="MONDO:equivalentTo"}
xref: EFO:0007317 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2787 {source="MONDO:GARD"}
xref: ICD10CM:B71.0 {source="Orphanet:401", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"}
xref: icd11.foundation:2028864113 {source="Orphanet:401", source="MONDO:equivalentTo"}
xref: ICD9:123.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10074"}
xref: MedDRA:10020546 {source="Orphanet:401", source="Orphanet:401/e"}
xref: MEDGEN:43772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006925 {source="Orphanet:401", source="EFO:0007317", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"}
xref: NCIT:C84768 {source="MONDO:equivalentTo", source="DOID:10074"}
xref: Orphanet:401 {source="MONDO:equivalentTo"}
xref: SCTID:187153007 {source="DOID:10074"}
xref: SCTID:44917000 {source="MONDO:equivalentTo", source="DOID:10074"}
xref: UMLS:C0020413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43772"}
is_a: MONDO:0004664 {source="DOID:10074", source="ICD10CM:B71.0/inferred", source="MESH:D006925/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:10074/inferred", source="EFO:0007317", source="MESH:D006925/inferred", source="MONDO:Redundant", source="NCIT:C84768", source="Orphanet:401"} ! parasitic infectious disease
relationship: disease_has_feature HP:0001903 {source="MONDO:Wikidata"} ! Anemia
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis" xsd:anyURI {source="GARD:0002787"}

[Term]
id: MONDO:0005803
name: hyperinsulinemic hypoglycemia
def: "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." [MESH:D046768]
subset: disease_grouping
subset: gard_rare {source="GARD:21849", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:443095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperinsulinemia hypoglycemia" EXACT [OMIMPS:256450]
synonym: "hyperinsulinemic hypoglycemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "islet cell hyperplasia" EXACT [DOID:13317]
synonym: "nesidioblastosis" RELATED [DOID:13317]
synonym: "persistent hyperinsulinemia hypoglycemia of infancy" EXACT [DOID:13317]
xref: DOID:13317 {source="MONDO:equivalentTo", source="EFO:0007318"}
xref: EFO:0007318 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21849 {source="MONDO:GARD"}
xref: HP:0000825 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E16.9 {source="DOID:13317"}
xref: MEDGEN:351247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046768 {source="DOID:13317", source="EFO:0007318"}
xref: NANDO:2100143 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200399 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4375 {source="DOID:13317", source="MONDO:relatedTo"}
xref: OMIMPS:256450 {source="MONDO:equivalentTo"}
xref: Orphanet:443095 {source="MONDO:equivalentTo"}
xref: SCTID:190450004 {source="DOID:13317"}
xref: SCTID:237649006 {source="DOID:13317"}
xref: SCTID:360337007 {source="DOID:13317"}
xref: SCTID:42681006 {source="DOID:13317", source="MONDO:equivalentTo"}
xref: SCTID:66149005 {source="DOID:13317"}
xref: UMLS:C1864903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351247"}
is_a: MONDO:0005151 {source="Orphanet:443095"} ! endocrine system disorder
is_a: MONDO:0019214 {source="DOID:13317", source="EFO:0007318"} ! inborn carbohydrate metabolic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020005"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256450"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3649" xsd:anyURI
property_value: IAO:0000589 "hyperinsulinemic hypoglycemia (disease)" xsd:string

[Term]
id: MONDO:0005804
name: hyperprolactinemia
def: "Abnormally high level of prolactin in the blood." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperprolactinaemia" EXACT [MESH:D006966]
synonym: "hyperprolactinemia" EXACT [MONDO:ambiguous]
synonym: "hyperprolactinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hyperprolactinemias" RELATED [MESH:D006966]
synonym: "hypersecretion syndrome, prolactin" RELATED [MESH:D006966]
synonym: "inappropriate prolactin secretion" RELATED [MESH:D006966]
synonym: "inappropriate prolactin secretion syndrome" RELATED [MESH:D006966]
synonym: "inappropriate secretion prolactin" RELATED [MESH:D006966]
synonym: "prolactin hypersecretion syndrome" RELATED [MESH:D006966]
synonym: "prolactin secretion, inappropriate" RELATED [MESH:D006966]
synonym: "prolactin, inappropriate secretion" RELATED [MESH:D006966]
synonym: "secretion prolactin, inappropriate" RELATED [MESH:D006966]
synonym: "secretion, inappropriate prolactin" RELATED [MESH:D006966]
synonym: "syndrome, prolactin hypersecretion" RELATED [MESH:D006966]
xref: DOID:12700 {source="MONDO:relatedTo", source="EFO:0007319"}
xref: EFO:0007319 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000870 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E22.1 {source="MONDO:equivalentTo"}
xref: ICD9:253.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002640 {source="EFO:0007319"}
xref: MESH:D006966 {source="MONDO:equivalentTo"}
xref: NANDO:2100115 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200322 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C113168 {source="MONDO:otherHierarchy"}
xref: SCTID:237662005 {source="MONDO:equivalentTo"}
xref: UMLS:C0020514 {source="MEDGEN:5698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006793 {source="MESH:D006966"} ! hyperpituitarism
relationship: disease_has_major_feature HP:0000870 ! Increased circulating prolactin concentration
property_value: IAO:0000589 "hyperprolactinemia (disease)" xsd:string

[Term]
id: MONDO:0005805
name: hypodermyiasis
def: "Infestation with larvae of the genus Hypoderma, the warble fly." [MESH:D007000]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Oestridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oestridae disease or disorder" EXACT []
synonym: "Oestridae infectious disease" EXACT []
xref: DOID:12926 {source="MONDO:equivalentTo", source="EFO:0007320"}
xref: MEDGEN:5708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007000 {source="DOID:12926", source="MONDO:equivalentTo", source="EFO:0007320"}
xref: Orphanet:430 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0020607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5708"}
is_a: MONDO:0019147 {source="DOID:12926", source="MESH:D007000"} ! myiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:7387 ! Oestridae

[Term]
id: MONDO:0005806
name: hypopharynx cancer
def: "A primary or metastatic malignant neoplasm that affects the hypopharynx." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hypopharyngeal cancer" EXACT [DOID:8533, MTH:NOCODE]
synonym: "hypopharynx pharynx cancer" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "hypural pharynx cancer" EXACT [MONDO:patterns/location]
synonym: "malignant hypopharyngeal neoplasm" EXACT [NCIT:C7190]
synonym: "malignant hypopharyngeal tumor" EXACT [DOID:8533, NCIT:C7190]
synonym: "malignant hypopharyngeal tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of hypopharynx" EXACT [DOID:8533, ICD9CM:148, NCIT:C7190]
synonym: "malignant neoplasm of hypopharynx NOS" RELATED EXCLUDE [DOID:8533]
synonym: "malignant neoplasm of hypopharynx, NOS" RELATED EXCLUDE [DOID:8533]
synonym: "malignant neoplasm of ill-defined sites within the lip and oral cavity" EXACT [DOID:8533]
synonym: "malignant neoplasm of other specified hypopharyngeal site" EXACT [DOID:8533]
synonym: "malignant neoplasm of other specified sites of hypopharynx" EXACT [DOID:8533]
synonym: "malignant neoplasm of posterior hypopharyngeal wall" EXACT [DOID:8533]
synonym: "malignant neoplasm of posterior wall of hypopharynx" EXACT [DOID:8533, MTH:U001377]
synonym: "malignant neoplasm of the hypopharynx" EXACT [NCIT:C7190]
synonym: "malignant tumor of hypopharynx" EXACT [DOID:8533, NCIT:C7190]
synonym: "malignant tumor of posterior wall of hypopharynx" EXACT [DOID:8533]
synonym: "malignant tumor of the hypopharynx" EXACT [NCIT:C7190]
synonym: "malignant tumour of hypopharynx" EXACT OMO:0003005 []
synonym: "malignant tumour of posterior wall of hypopharynx" EXACT OMO:0003005 []
synonym: "malignant tumour of the hypopharynx" EXACT OMO:0003005 []
synonym: "pharynx cancer of hypopharynx" EXACT [MONDO:design_pattern]
xref: DOID:8533 {source="MONDO:equivalentTo", source="EFO:0007321"}
xref: EFO:0007321 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C13 {source="DOID:8533", source="MONDO:equivalentTo"}
xref: ICD10CM:C13.2 {source="DOID:8533"}
xref: ICD10CM:C13.9 {source="DOID:8533"}
xref: ICD9:148 {source="DOID:8533"}
xref: ICD9:148.3 {source="DOID:8533", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:148.9 {source="DOID:8533"}
xref: MEDGEN:102266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007012 {source="DOID:8533", source="MONDO:equivalentTo", source="EFO:0007321"}
xref: NCIT:C7190 {source="DOID:8533", source="MONDO:equivalentTo"}
xref: SCTID:187712005 {source="DOID:8533"}
xref: SCTID:187717004 {source="DOID:8533"}
xref: SCTID:303012000 {source="DOID:8533", source="MONDO:equivalentTo"}
xref: SCTID:363399006 {source="DOID:8533"}
xref: SCTID:93831006 {source="DOID:8533"}
xref: SCTID:93968005 {source="DOID:8533"}
xref: UMLS:C0153398 {source="MEDGEN:102266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005517 {source="DOID:8533", source="EFO:0007321", source="MESH:D007012", source="MONDO:Redundant", source="NCIT:C7190"} ! pharynx cancer
intersection_of: MONDO:0005517 ! pharynx cancer
intersection_of: disease_has_location UBERON:0001051 ! hypopharynx

[Term]
id: MONDO:0005807
name: idiopathic CD4-positive T-lymphocytopenia
def: "A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:3109 {source="MONDO:equivalentTo", source="EFO:0007322"}
xref: MEDGEN:64647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018344 {source="MONDO:equivalentTo", source="DOID:3109", source="EFO:0007322"}
xref: NCIT:C84780 {source="MONDO:equivalentTo", source="DOID:3109"}
xref: UMLS:C0206744 {source="MEDGEN:64647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003780 {source="NCIT:C84780"} ! T-cell immunodeficiency
is_a: MONDO:0003783 {source="DOID:3109", source="MESH:D018344"} ! lymphopenia
relationship: disease_has_feature HP:0001888 ! Lymphopenia
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0005808
name: inclusion conjunctivitis
def: "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." [NCIT:C116817]
subset: otar {source="MONDO:OTAR"}
synonym: "adult inclusion conjunctivitis" EXACT [DOID:13800]
synonym: "Chlamydial conjunctivitis" EXACT [DOID:13800]
synonym: "inclusion blennorrhoea" EXACT [DOID:13800]
synonym: "inclusion blenorrhea" EXACT [DOID:13800]
synonym: "neonatal Chlamydia conjunctivitis" EXACT [NCIT:C116817]
synonym: "Paratrachoma" RELATED [DOID:13800]
synonym: "Trachoma" EXACT [NCIT:C116817]
xref: DOID:13800 {source="EFO:0007324", source="MONDO:equivalentTo"}
xref: EFO:0007324 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A74.0 {source="DOID:13800", source="MONDO:equivalentTo"}
xref: ICD9:077.0 {source="DOID:13800"}
xref: ICD9:077.98 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003235 {source="DOID:13800", source="EFO:0007324", source="MONDO:equivalentTo"}
xref: NCIT:C116817 {source="MONDO:equivalentTo"}
xref: SCTID:111840005 {source="DOID:13800"}
xref: SCTID:154370006 {source="DOID:13800"}
xref: SCTID:186674002 {source="DOID:13800"}
xref: SCTID:186733005 {source="DOID:13800"}
xref: SCTID:231861005 {source="DOID:13800", source="MONDO:equivalentTo"}
xref: SCTID:266109000 {source="DOID:13800"}
xref: SCTID:266202002 {source="DOID:13800"}
xref: SCTID:56009001 {source="DOID:13800"}
xref: UMLS:C0009770 {source="MEDGEN:1095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000315 {source="DOID:13800", source="MONDO:Redundant", source="MONDO:indirect"} ! commensal bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:13800/inferred", source="EFO:0007324", source="MESH:D003235/inferred", source="MONDO:Redundant", source="NCIT:C116817/inferred"} ! bacterial infectious disease
is_a: MONDO:0006668 {source="MESH:D003235", source="NCIT:C116817"} ! bacterial conjunctivitis
relationship: disease_has_infectious_agent NCBITaxon:813 {source="MONDO:Wikidata"} ! Chlamydia trachomatis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6777/inclusion-conjunctivitis" xsd:anyURI {source="GARD:0006777"}

[Term]
id: MONDO:0005809
name: infectious ectromelia
def: "A viral infection of mice, causing edema and necrosis followed by limb loss." [MESH:D004482]
xref: DOID:3296 {source="EFO:0007325", source="MONDO:obsolete"}
xref: MESH:D004482 {source="EFO:0007325", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007325", source="MESH:D004482/inferred"} ! non-human animal disease
is_a: MONDO:0700053 {source="MESH:D004482"} ! viral infectious disease, non-human animal
relationship: in_taxon NCBITaxon:10090 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Mus musculus

[Term]
id: MONDO:0005810
name: infectious mononucleosis
def: "A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Filatov's disease" EXACT [DOID:8568]
synonym: "Gammaherpesviral mononucleosis" EXACT [DOID:8568]
synonym: "glandular fever" EXACT [DOID:8568]
synonym: "Mono" EXACT [NCIT:C34726]
synonym: "monocytic angina" EXACT [DOID:8568]
synonym: "mononucleosis" EXACT [DOID:8568]
synonym: "Pfeiffer's disease" EXACT [DOID:8568]
xref: DOID:8568 {source="EFO:0007326", source="MONDO:equivalentTo"}
xref: EFO:0007326 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B27 {source="DOID:8568"}
xref: ICD10CM:B27.0 {source="DOID:8568"}
xref: ICD10CM:B27.9 {source="DOID:8568"}
xref: ICD9:075 {source="DOID:8568"}
xref: MEDGEN:7069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007244 {source="EFO:0007326", source="DOID:8568", source="MONDO:equivalentTo"}
xref: NANDO:1200668 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200976 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34726 {source="DOID:8568", source="MONDO:equivalentTo"}
xref: SCTID:154359004 {source="DOID:8568"}
xref: SCTID:186667007 {source="DOID:8568"}
xref: SCTID:186668002 {source="DOID:8568", source="MONDO:equivalentTo"}
xref: SCTID:186670006 {source="DOID:8568"}
xref: SCTID:187460007 {source="DOID:8568"}
xref: SCTID:26851006 {source="DOID:8568"}
xref: SCTID:271558008 {source="DOID:8568"}
xref: SCTID:314131007 {source="DOID:8568"}
xref: UMLS:C0021345 {source="MEDGEN:7069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005111 {source="MESH:D007244", source="MONDO:Redundant", source="NCIT:C34726"} ! Epstein-Barr virus infection
relationship: disease_has_feature HP:0001744 ! Splenomegaly
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: disease_has_infectious_agent NCBITaxon:10376 {source="MONDO:Wikidata"} ! human gammaherpesvirus 4

[Term]
id: MONDO:0005811
name: infectious myxomatosis
def: "A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties." [EFO:0007327]
xref: DOID:3297 {source="EFO:0007327", source="MONDO:obsolete"}
xref: MESH:D009234 {source="EFO:0007327", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007327", source="MESH:D009234"} ! non-human animal disease
is_a: MONDO:0700053 {source="EFO:0007327"} ! viral infectious disease, non-human animal
relationship: in_taxon NCBITaxon:9986 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Oryctolagus cuniculus

[Term]
id: MONDO:0005812
name: influenza
def: "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "flu" EXACT [DOID:8469]
synonym: "influenza infection" EXACT [MONDO:0005162]
synonym: "influenza with non-respiratory manifestation" EXACT [DOID:8469]
synonym: "Influenza with other manifestations" EXACT [DOID:8469, ICD9CM:487.8]
synonym: "orthomyxoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "orthomyxoviridae disease or disorder" EXACT []
synonym: "orthomyxoviridae infectious disease" EXACT [MONDO:0005889]
xref: DOID:4493 {source="EFO:0007411", source="MONDO:obsolete"}
xref: DOID:8469 {source="EFO:0007328", source="MONDO:equivalentTo", source="EFO:0001669"}
xref: EFO:0007328 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="MONDO:EFO"}
xref: ICD10CM:J09-J18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J11.1 {source="DOID:8469"}
xref: ICD9:487 {source="DOID:8469", source="EFO:0001669"}
xref: ICD9:487.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007251 {source="DOID:8469", source="EFO:0007328", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MESH:D009976 {source="EFO:0007411", source="MONDO:equivalentTo"}
xref: NCIT:C53482 {source="DOID:8469", source="MONDO:equivalentTo", source="EFO:0001669"}
xref: SCTID:155559006 {source="DOID:8469"}
xref: SCTID:155562009 {source="DOID:8469"}
xref: SCTID:195931008 {source="DOID:8469"}
xref: SCTID:266353003 {source="DOID:8469"}
xref: SCTID:266393000 {source="DOID:8469"}
xref: SCTID:6142004 {source="DOID:8469", source="EFO:0001669"}
xref: SCTID:61700007 {source="MONDO:equivalentTo"}
xref: UMLS:C0021400 {source="MEDGEN:9466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="DOID:8469", source="MESH:D007251/inferred", source="MONDO:Redundant"} ! respiratory system disorder
is_a: MONDO:0005108 {source="DOID:8469", source="EFO:0007328", source="EFO:0007411", source="MESH:D007251/inferred", source="MESH:D009976/inferred", source="MONDO:Redundant", source="NCIT:C53482"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11308 ! disease has primary infectious agent Orthomyxoviridae
relationship: disease_has_feature HP:0001324 ! Muscle weakness
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_infectious_agent NCBITaxon:11308 {source="MONDO:Wikidata"} ! Orthomyxoviridae
relationship: disease_has_location UBERON:0000065 ! respiratory tract
relationship: disease_has_location UBERON:0001004 {source="EFO:0000784"} ! respiratory system

[Term]
id: MONDO:0005813
name: interdigitating dendritic cell sarcoma
def: "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)" [NCIT:C9282]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "interdigitating cell sarcoma" BROAD [DOID:7848, NCIT:C9282]
synonym: "interdigitating cell sarcoma/tumor" EXACT [NCIT:C9282]
synonym: "interdigitating Dendritic cell sarcoma" EXACT [NCIT:C9282]
synonym: "interdigitating Dendritic cell sarcoma/tumor" EXACT [NCIT:C9282]
xref: DOID:7848 {source="MONDO:equivalentTo", source="EFO:0007329"}
xref: EFO:0007329 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C96.4 {source="DOID:7848"}
xref: ICDO:9757/1 {source="NCIT:C9282"}
xref: ICDO:9757/3 {source="NCIT:C9282"}
xref: MEDGEN:266040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054739 {source="MONDO:equivalentTo", source="EFO:0007329", source="DOID:7848"}
xref: NANDO:2200035 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9282 {source="MONDO:equivalentTo", source="DOID:7848", source="MONDO:exact-label-match"}
xref: ONCOTREE:IDCS {source="MONDO:equivalentTo"}
xref: SCTID:128815007 {source="DOID:7848"}
xref: SCTID:715664005 {source="MONDO:equivalentTo"}
xref: UMLS:C1260326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266040"}
is_a: MONDO:0004380 {source="https://orcid.org/0000-0001-5208-3432"} ! dendritic cell sarcoma
is_a: MONDO:0006247 {source="DOID:7848", source="NCIT:C9282"} ! histiocytic and dendritic cell neoplasm
relationship: disease_has_location CL:0000451 {source="EFO:0000784"} ! dendritic cell

[Term]
id: MONDO:0005814
name: intestinal cancer
def: "A malignant neoplasm involving the intestine" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "bowel cancer" EXACT [NCIT:C4572]
synonym: "cancer of intestine" EXACT [MONDO:patterns/cancer, NCIT:C4572]
synonym: "cancer of the intestine" EXACT [NCIT:C4572]
synonym: "intestinal cancer" EXACT [NCIT:C4572]
synonym: "intestinal neoplasms, malignant" EXACT [NCIT:C4572]
synonym: "intestinal tumors, malignant" EXACT [NCIT:C4572]
synonym: "intestine cancer" EXACT [MONDO:patterns/location]
synonym: "malignant intestinal neoplasm" EXACT [NCIT:C4572]
synonym: "malignant intestinal neoplasms" EXACT [NCIT:C4572]
synonym: "malignant intestinal tumor" EXACT [NCIT:C4572]
synonym: "malignant intestinal tumors" EXACT [DOID:10155, NCIT:C4572]
synonym: "malignant intestinal tumour" EXACT OMO:0003005 []
synonym: "malignant intestinal tumours" EXACT OMO:0003005 []
synonym: "malignant intestine neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4572]
synonym: "malignant intestine tumor" EXACT [NCIT:C4572]
synonym: "malignant intestine tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of intestine" EXACT [DOID:10155, MONDO:patterns/cancer, NCIT:C4572]
synonym: "malignant neoplasm of the intestine" EXACT [NCIT:C4572]
synonym: "malignant tumor of intestine" EXACT [NCIT:C4572]
synonym: "malignant tumor of the intestine" EXACT [NCIT:C4572]
synonym: "malignant tumour of intestine" EXACT OMO:0003005 []
synonym: "malignant tumour of the intestine" EXACT OMO:0003005 []
xref: DOID:10155 {source="MONDO:equivalentTo", source="EFO:0007330"}
xref: EFO:0007330 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C26.0 {source="DOID:10155"}
xref: ICD9:159.0 {source="DOID:10155"}
xref: MEDGEN:87562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007414 {source="MONDO:equivalentTo", source="DOID:10155", source="EFO:0007330"}
xref: NCIT:C4572 {source="MONDO:equivalentTo", source="DOID:10155"}
xref: SCTID:187819006 {source="DOID:10155"}
xref: SCTID:190089002 {source="DOID:10155"}
xref: SCTID:363508008 {source="MONDO:equivalentTo", source="DOID:10155"}
xref: SCTID:93838000 {source="DOID:10155"}
xref: UMLS:C0346627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87562"}
is_a: MONDO:0002516 {source="DOID:10155", source="MONDO:Redundant", source="NCIT:C4572"} ! digestive system cancer
is_a: MONDO:0021118 {source="MONDO:Redundant", source="NCIT:C4572"} ! intestinal neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0005815
name: pancreatic neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." [NCIT:C27031]
comment: Editor note: classified as carcinoma in EFO
subset: disease_grouping
subset: gard_rare {source="GARD:22052", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:506052"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endocrine pancreas cancer" NARROW [DOID:1799]
synonym: "endocrine pancreas neoplasm" EXACT []
synonym: "endocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "endocrine pancreas tumour" EXACT OMO:0003005 []
synonym: "islet cell neoplasm" NARROW [DOID:1799]
synonym: "islet cell tumor" NARROW [DOID:1799]
synonym: "Islet cell tumors" NARROW [GARD:0007311]
synonym: "islet cell tumour" NARROW OMO:0003005 []
synonym: "Islet cell tumours" NARROW OMO:0003005 []
synonym: "Islet of Langerhans tumor" RELATED [GARD:0007311]
synonym: "Islet of Langerhans tumour" RELATED OMO:0003005 []
synonym: "malignant pancreatic endocrine tumor" NARROW [DOID:1799, NCIT:C3770]
synonym: "malignant pancreatic endocrine tumour" NARROW OMO:0003005 []
synonym: "malignant tumor of endocrine pancreas" EXACT [DOID:1799]
synonym: "malignant tumour of endocrine pancreas" EXACT OMO:0003005 []
synonym: "neoplasm of endocrine pancreas" EXACT [MONDO:patterns/neoplasm]
synonym: "neuroendocrine neoplasm of pancreas" RELATED [Orphanet:506052]
synonym: "pancreatic endocrine neoplasm" EXACT [DOID:1799, NCIT:C27031]
synonym: "pancreatic NEN" EXACT [Orphanet:506052]
synonym: "pancreatic neuroendocrine neoplasm" EXACT [NCIT:C27031, Orphanet:506052]
synonym: "PNEN" EXACT ABBREVIATION [Orphanet:506052]
synonym: "tumor of endocrine pancreas" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of endocrine pancreas" EXACT OMO:0003005 []
xref: DOID:1799 {source="MONDO:equivalentTo", source="EFO:0007331"}
xref: EFO:0007331 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22052 {source="MONDO:GARD"}
xref: ICD10CM:C25.4 {source="DOID:1799"}
xref: ICD10CM:D13.7 {source="DOID:1799"}
xref: icd11.foundation:1421495979 {source="Orphanet:506052", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:8150/1 {source="NCIT:C27031"}
xref: MESH:D007516 {source="DOID:1799", source="EFO:0007331"}
xref: NCIT:C27031 {source="MONDO:equivalentTo", source="DOID:1799"}
xref: Orphanet:506052 {source="MONDO:equivalentTo"}
xref: SCTID:126864006 {source="DOID:1799"}
xref: SCTID:128878003 {source="DOID:1799"}
xref: SCTID:154609001 {source="DOID:1799"}
xref: SCTID:188855000 {source="DOID:1799"}
xref: SCTID:237596009 {source="DOID:1799"}
xref: SCTID:254611009 {source="MONDO:equivalentTo", source="DOID:1799"}
xref: SCTID:261713004 {source="DOID:1799"}
xref: SCTID:269636003 {source="DOID:1799"}
xref: SCTID:399528006 {source="DOID:1799"}
xref: SCTID:76345009 {source="DOID:1799"}
is_a: MONDO:0001933 {source="DOID:1799", source="MONDO:Redundant", source="NCIT:C27031"} ! endocrine pancreas disorder
is_a: MONDO:0021040 {source="EFO:0007331", source="MONDO:0018520-obsoleted", source="MONDO:Entailed", source="NCIT:C27031"} ! pancreatic neoplasm
is_a: MONDO:0024503 {source="Orphanet:506052"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000016 ! endocrine pancreas

[Term]
id: MONDO:0005816
name: obsolete Japanese encephalitis
is_obsolete: true
replaced_by: MONDO:0019209

[Term]
id: MONDO:0005817
name: Kluver-Bucy syndrome
alt_id: MONDO:0015527
def: "Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications." [https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome]
subset: gard_rare {source="GARD:6840", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1338"}
subset: ordo_clinical_syndrome {source="Orphanet:157823"}
subset: ordo_disorder {source="Orphanet:157823"}
subset: orphanet_rare {source="Orphanet:157823"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral temporal lobe disorder" RELATED [GARD:0006840]
synonym: "KLuever-Bucy syndrome" RELATED []
synonym: "Kluver Bucy syndrome" RELATED [GARD:0006840, MESH:D020232]
synonym: "Klver-Bucy syndrome" EXACT [DOID:2510]
synonym: "KLüver-Bucy syndrome" EXACT [Orphanet:157823]
synonym: "memory loss, extreme sexual behavior, placidity, and visual distractibility" RELATED [GARD:0006840]
synonym: "post-encephalitic Kluver Bucy syndrome (type)" RELATED [GARD:0006840]
synonym: "post-traumatic Kluver Bucy syndrome (type)" RELATED [GARD:0006840]
synonym: "syndrome, Kluver-Bucy" RELATED [MESH:D020232]
synonym: "temporal lobectomy behavior syndrome" RELATED [MESH:D020232]
synonym: "temporal lobectomy behaviour syndrome" RELATED OMO:0003005 []
xref: DOID:2510 {source="EFO:0007335", source="MONDO:equivalentTo"}
xref: EFO:0007335 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6840 {source="MONDO:GARD"}
xref: MedDRA:10066431 {source="Orphanet:157823", source="Orphanet:157823/e"}
xref: MEDGEN:124361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020232 {source="EFO:0007335", source="DOID:2510", source="MONDO:equivalentTo", source="Orphanet:157823", source="Orphanet:157823/e"}
xref: NCIT:C84802 {source="DOID:2510", source="MONDO:equivalentTo"}
xref: NORD:1338 {source="MONDO:NORD"}
xref: Orphanet:157823 {source="MONDO:equivalentTo"}
xref: SCTID:10651001 {source="DOID:2510", source="MONDO:equivalentTo"}
xref: UMLS:C0270707 {source="MEDGEN:124361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001162 {source="DOID:2510"} ! impulse control disorder
is_a: MONDO:0002254 {source="NCIT:C84802"} ! syndromic disease
is_a: MONDO:0020067 {source="Orphanet:157823"} ! infectious encephalitis
relationship: excluded_subClassOf MONDO:0005084 {source="EFO:0007335", source="https://orcid.org/0000-0001-5208-3432"} ! mental disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome" xsd:anyURI {source="GARD:0006840"}

[Term]
id: MONDO:0005818
name: obsolete Langerhans cell sarcoma
is_obsolete: true
replaced_by: MONDO:0019480

[Term]
id: MONDO:0005819
name: laryngeal tuberculosis
def: "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare." [NCIT:C26895]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "larynx tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculous laryngitis" EXACT [NCIT:C26895]
xref: DOID:1583 {source="EFO:0007337", source="MONDO:equivalentTo"}
xref: EFO:0007337 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A15.5 {source="DOID:1583"}
xref: ICD9:012.3 {source="DOID:1583"}
xref: ICD9:012.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:012.31 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:012.32 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014387 {source="EFO:0007337", source="DOID:1583", source="MONDO:equivalentTo"}
xref: NCIT:C26895 {source="DOID:1583", source="MONDO:equivalentTo"}
xref: SCTID:70341005 {source="DOID:1583", source="MONDO:equivalentTo"}
xref: UMLS:C0041315 {source="MEDGEN:11945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis
is_a: MONDO:0002647 {source="DOID:1583", source="NCIT:C26895"} ! laryngitis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0001737 ! larynx
relationship: disease_has_feature HP:0001609 ! Hoarse voice
relationship: disease_has_feature HP:0002015 ! Dysphagia
relationship: excluded_subClassOf MONDO:0018076 {source="EFO:0007337", source="MESH:D014387", source="MONDO:Redundant", source="NCIT:C26895", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4143" xsd:anyURI

[Term]
id: MONDO:0005820
name: Lassa fever
def: "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss." [NCIT:C128418]
subset: gard_rare {source="GARD:19688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99824"}
subset: orphanet_rare {source="Orphanet:99824"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lassa hemorrhagic fever" EXACT [Orphanet:99824]
synonym: "LF" EXACT ABBREVIATION [Orphanet:99824]
xref: DOID:9537 {source="EFO:0007338", source="MONDO:equivalentTo"}
xref: EFO:0007338 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19688 {source="MONDO:GARD"}
xref: ICD10CM:A96.2 {source="DOID:9537", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"}
xref: icd11.foundation:515020316 {source="MONDO:equivalentTo", source="Orphanet:99824"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10023927 {source="Orphanet:99824", source="Orphanet:99824/e"}
xref: MEDGEN:7276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007835 {source="DOID:9537", source="EFO:0007338", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"}
xref: NCIT:C128418 {source="MONDO:equivalentTo"}
xref: Orphanet:99824 {source="MONDO:equivalentTo"}
xref: SCTID:19065005 {source="DOID:9537", source="MONDO:equivalentTo"}
xref: UMLS:C0023092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7276"}
is_a: MONDO:0018087 {source="MESH:D007835", source="NCIT:C128418", source="Orphanet:99824"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:11620 ! disease has primary infectious agent
relationship: transmitted_by NCBITaxon:9989 ! Rodentia

[Term]
id: MONDO:0005821
name: late congenital syphilis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "juvenile neurosyphilis" RELATED [DOID:10039]
synonym: "juvenile syphilis" RELATED []
synonym: "late congenital syphilis" EXACT []
synonym: "late congenital syphilis (2 years or more)" EXACT []
synonym: "late congenital syphilis, symptomatic (2 years or more)" RELATED []
xref: DOID:10039 {source="EFO:0007339", source="MONDO:equivalentTo"}
xref: ICD10CM:A50.4 {source="DOID:10039"}
xref: ICD10CM:A50.40 {source="DOID:10039"}
xref: ICD10CM:A50.5 {source="DOID:10039"}
xref: ICD10CM:A50.59 {source="DOID:10039"}
xref: ICD9:090.4 {source="DOID:10039"}
xref: ICD9:090.40 {source="DOID:10039"}
xref: ICD9:090.5 {source="DOID:10039", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:090.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:640497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009494 {source="DOID:10039", source="EFO:0007339"}
xref: SCTID:186836008 {source="DOID:10039"}
xref: SCTID:186837004 {source="DOID:10039"}
xref: SCTID:186839001 {source="DOID:10039"}
xref: SCTID:187350002 {source="DOID:10039"}
xref: SCTID:4243004 {source="DOID:10039"}
xref: SCTID:82323002 {source="DOID:10039", source="MONDO:equivalentTo"}
xref: UMLS:C0554634 {source="MEDGEN:640497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005714 {source="DOID:10039", source="EFO:0007339"} ! congenital syphilis
relationship: disease_has_feature HP:0000407 ! Sensorineural hearing impairment
relationship: disease_has_feature HP:0000648 ! Optic atrophy

[Term]
id: MONDO:0005822
name: latent syphilis
def: "A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9531 {source="MONDO:equivalentTo", source="EFO:0007340"}
xref: EFO:0007340 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A53.0 {source="DOID:9531"}
xref: ICD9:097.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9531"}
xref: MEDGEN:21056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013592 {source="MONDO:equivalentTo", source="EFO:0007340", source="DOID:9531"}
xref: NCIT:C35056 {source="MONDO:equivalentTo", source="DOID:9531"}
xref: SCTID:186906003 {source="DOID:9531"}
xref: SCTID:444150000 {source="MONDO:equivalentTo", source="DOID:9531"}
xref: UMLS:C0039133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21056"}
is_a: MONDO:0005976 {source="DOID:9531", source="EFO:0007340", source="MESH:D013592", source="NCIT:C35056"} ! syphilis

[Term]
id: MONDO:0005823
name: legionellosis
def: "Any disease caused by Legionella bacteria." [NCIT:C128334]
subset: gard_rare {source="GARD:22419", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:549"}
subset: ordo_group_of_disorders {source="Orphanet:600832"}
subset: orphanet_rare {source="Orphanet:549"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Legionella infection" EXACT [DOID:10458]
synonym: "Legionnaires disease" EXACT [Orphanet:549]
xref: DOID:10458 {source="MONDO:equivalentTo", source="EFO:0007342"}
xref: EFO:0007342 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22419 {source="MONDO:GARD"}
xref: ICD10CM:A48.1 {source="Orphanet:549", source="Orphanet:549/e"}
xref: icd11.foundation:390042715 {source="Orphanet:600832", source="MONDO:equivalentTo"}
xref: icd11.foundation:424434722 {source="MONDO:equivalentTo", source="Orphanet:549", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10035718 {source="Orphanet:549", source="Orphanet:549/e"}
xref: MedDRA:10061266 {source="Orphanet:549", source="Orphanet:549/e"}
xref: MEDGEN:7292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007876 {source="DOID:10458", source="MONDO:equivalentTo", source="Orphanet:549", source="EFO:0007342", source="Orphanet:549/e"}
xref: MESH:D007877 {source="Orphanet:549", source="Orphanet:549/e"}
xref: NCIT:C128334 {source="MONDO:equivalentTo"}
xref: Orphanet:549 {source="MONDO:equivalentTo"}
xref: Orphanet:600832 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:26726000 {source="DOID:10458", source="MONDO:equivalentTo"}
xref: UMLS:C0023240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7292"}
is_a: MONDO:0000314 {source="DOID:10458"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:10458/inferred", source="EFO:0007342", source="MESH:D007876/inferred", source="MONDO:Redundant", source="NCIT:C128334", source="Orphanet:549"} ! bacterial infectious disease
relationship: disease_has_infectious_agent NCBITaxon:446 ! Legionella pneumophila
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0005824
name: Legionnaires' disease
def: "A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations." [NCIT:C128339]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1354"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection by Legionella pneumophilia" EXACT [DOID:10457]
synonym: "Legionella" EXACT [DOID:10457]
synonym: "Legionella pneumonia" EXACT [NCIT:C128339]
synonym: "legionnaire's disease" EXACT [DOID:10457]
synonym: "Legionnaires' Disease" EXACT [NORD:1354]
xref: DOID:10457 {source="MONDO:equivalentTo", source="EFO:0007343"}
xref: EFO:0007343 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A48.1 {source="DOID:10457"}
xref: ICD9:482.84 {source="DOID:10457", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007877 {source="DOID:10457", source="MONDO:equivalentTo", source="EFO:0007343"}
xref: NCIT:C128339 {source="MONDO:equivalentTo"}
xref: NORD:1354 {source="MONDO:NORD"}
xref: SCTID:154315008 {source="DOID:10457"}
xref: SCTID:195889001 {source="DOID:10457", source="MONDO:equivalentTo"}
xref: SCTID:266186009 {source="DOID:10457"}
xref: SCTID:269574000 {source="DOID:10457"}
xref: SCTID:312403005 {source="DOID:10457"}
xref: SCTID:74881002 {source="DOID:10457"}
xref: UMLS:C0023241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9705"}
is_a: MONDO:0004652 {source="NCIT:C128339"} ! bacterial pneumonia
is_a: MONDO:0005823 {source="DOID:10457", source="MESH:D007877"} ! legionellosis
relationship: disease_has_feature HP:0002090 ! Pneumonia
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: disease_has_infectious_agent NCBITaxon:446 {source="MONDO:Wikidata"} ! Legionella pneumophila

[Term]
id: MONDO:0005825
name: leptospirosis
def: "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure." [NCIT:P378]
subset: gard_rare {source="GARD:7881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1363"}
subset: ordo_disorder {source="Orphanet:509"}
subset: orphanet_rare {source="Orphanet:509"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cane cutter's fever" RELATED []
synonym: "cane-cutter fever" RELATED [GARD:0007881]
synonym: "canicola fever" RELATED [GARD:0007881]
synonym: "fort Bragg fever" EXACT [DOID:2297]
synonym: "harvest fever" RELATED []
synonym: "hemorrhagic jaundice" RELATED [GARD:0007881]
synonym: "Icterohemorrhagic fever" RELATED [GARD:0007881]
synonym: "infection due to Leptospira" RELATED []
synonym: "japanese autumnal fever" RELATED []
synonym: "Leptospira caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Leptospira disease or disorder" EXACT []
synonym: "Leptospira infectious disease" EXACT []
synonym: "leptospirosis" EXACT []
synonym: "leptospirosis icterohaemorrhagica" EXACT [DOID:2297]
synonym: "mud fever" RELATED [GARD:0007881]
synonym: "nanukayami fever" EXACT [DOID:2297]
synonym: "Queensland fever" RELATED []
synonym: "rat catcher's yellows" EXACT [DOID:2297]
synonym: "rice-field fever" RELATED [GARD:0007881]
synonym: "rice-field worker's disease" RELATED []
synonym: "seven day fever" RELATED []
synonym: "spirochetal jaundice" EXACT [DOID:2297]
synonym: "Stuttgart disease" RELATED [GARD:0007881]
synonym: "swamp fever" RELATED [GARD:0007881]
synonym: "swineherd's disease" RELATED [GARD:0007881]
synonym: "Weil disease" RELATED [GARD:0007881]
synonym: "Weil's disease" RELATED EXCLUDE [DOID:2297]
xref: DOID:2297 {source="MONDO:equivalentTo", source="EFO:0007344"}
xref: EFO:0007344 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7881 {source="MONDO:GARD"}
xref: ICD10CM:A27 {source="DOID:2297", source="MONDO:equivalentTo"}
xref: ICD10CM:A27.0 {source="DOID:2297", source="Orphanet:509/btnt", source="Orphanet:509"}
xref: ICD10CM:A27.8 {source="Orphanet:509/btnt", source="Orphanet:509"}
xref: ICD10CM:A27.9 {source="DOID:2297", source="Orphanet:509/btnt", source="Orphanet:509"}
xref: icd11.foundation:751399056 {source="MONDO:equivalentTo", source="Orphanet:509"}
xref: ICD9:100 {source="DOID:2297"}
xref: ICD9:100.0 {source="DOID:2297"}
xref: ICD9:100.89
xref: ICD9:100.9 {source="DOID:2297"}
xref: MedDRA:10024238 {source="Orphanet:509/e", source="Orphanet:509"}
xref: MEDGEN:7309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007922 {source="DOID:2297", source="Orphanet:509/e", source="MONDO:equivalentTo", source="Orphanet:509", source="EFO:0007344"}
xref: MESH:D014895 {source="DOID:2297"}
xref: NCIT:C84825 {source="DOID:2297", source="MONDO:equivalentTo"}
xref: NORD:1363 {source="MONDO:NORD"}
xref: Orphanet:509 {source="MONDO:equivalentTo"}
xref: SCTID:154391003 {source="DOID:2297"}
xref: SCTID:186953000 {source="DOID:2297"}
xref: SCTID:186954006 {source="DOID:2297"}
xref: SCTID:186958009 {source="DOID:2297"}
xref: SCTID:186959001 {source="DOID:2297"}
xref: SCTID:187311001 {source="DOID:2297"}
xref: SCTID:266213004 {source="DOID:2297"}
xref: SCTID:398067003 {source="DOID:2297"}
xref: SCTID:398222003 {source="DOID:2297"}
xref: SCTID:50574007 {source="DOID:2297"}
xref: SCTID:69092001 {source="DOID:2297"}
xref: SCTID:77377001 {source="DOID:2297", source="MONDO:equivalentTo"}
xref: UMLS:C0023364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7309"}
is_a: MONDO:0000314 {source="DOID:2297"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:2297/inferred", source="EFO:0007344", source="MESH:D007922/inferred", source="MONDO:Redundant", source="NCIT:C84825", source="Orphanet:509"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:171 ! Leptospira
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7881/leptospirosis" xsd:anyURI {source="GARD:0007881"}

[Term]
id: MONDO:0005826
name: lipid pneumonia
def: "Pneumonia due to aspiration or inhalation of various oily or fatty substances." [MESH:D011017]
subset: otar {source="MONDO:OTAR"}
synonym: "cholesterol pneumonia" RELATED [https://orcid.org/0000-0003-0113-912X]
synonym: "exogenous lipoid pneumonia" EXACT [DOID:3241]
synonym: "lipoid pneumonitis" EXACT [DOID:3241, https://orcid.org/0000-0003-0113-912X]
synonym: "lipoidpneumonitis" EXACT [https://orcid.org/0000-0003-0113-912X]
synonym: "pneumonia lipid" RELATED [GARD:0006394]
xref: DOID:3241 {source="EFO:0007345", source="MONDO:equivalentTo"}
xref: EFO:0007345 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J69.1 {source="DOID:3241"}
xref: MEDGEN:19362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011017 {source="EFO:0007345", source="MONDO:equivalentTo", source="DOID:3241"}
xref: SCTID:196038008 {source="DOID:3241"}
xref: SCTID:37629004 {source="DOID:3241"}
xref: SCTID:416916004 {source="DOID:3241"}
xref: SCTID:707449006 {source="MONDO:equivalentTo", source="DOID:3241"}
xref: UMLS:C0032298 {source="MEDGEN:19362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002572 {source="DOID:3241"} ! aspiration pneumonitis
relationship: disease_has_feature HP:0002835 ! Aspiration

[Term]
id: MONDO:0005827
name: lipoatrophic diabetes
def: "A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "diabete, lipoatrophic" EXACT [MESH:D003923]
synonym: "diabetes, lipoatrophic" RELATED [MESH:D003923]
synonym: "lipoatrophic diabete" RELATED [MESH:D003923]
synonym: "lipoatrophic diabetes" EXACT [MESH:D003923]
synonym: "lipoatrophic diabetes mellitus" RELATED [MESH:D003923]
xref: DOID:11712 {source="EFO:0007346", source="MONDO:equivalentTo"}
xref: EFO:0007346 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:4256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003923 {source="EFO:0007346", source="DOID:11712", source="MONDO:equivalentTo"}
xref: NANDO:2200465 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34537 {source="DOID:11712", source="MONDO:equivalentTo"}
xref: SCTID:127012008 {source="DOID:11712", source="MONDO:equivalentTo"}
xref: SCTID:408543001 {source="DOID:11712"}
xref: SCTID:71325002 {source="DOID:11712", source="MONDO:relatedTo"}
xref: UMLS:C0011859 {source="MEDGEN:4256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005148 {source="DOID:11712", source="EFO:0007346", source="MESH:D003923"} ! type 2 diabetes mellitus

[Term]
id: MONDO:0005828
name: listeriosis
def: "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy." [NCIT:P378]
subset: gard_rare {source="GARD:6915", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1375"}
subset: ordo_disorder {source="Orphanet:533"}
subset: orphanet_rare {source="Orphanet:533"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection by Listeria monocytogenes" EXACT [DOID:11573]
synonym: "Listeria infection" EXACT [DOID:11573]
synonym: "Listeria monocytogenes caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Listeria monocytogenes disease or disorder" EXACT []
synonym: "Listeria monocytogenes infection" RELATED [GARD:0006915]
synonym: "Listeria monocytogenes infectious disease" EXACT []
xref: DOID:11573 {source="EFO:0007347", source="MONDO:equivalentTo"}
xref: EFO:0007347 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6915 {source="MONDO:GARD"}
xref: ICD10CM:A32 {source="MONDO:equivalentTo", source="DOID:11573"}
xref: ICD10CM:A32.0 {source="Orphanet:533", source="Orphanet:533/btnt"}
xref: ICD10CM:A32.1 {source="Orphanet:533", source="Orphanet:533/btnt"}
xref: ICD10CM:A32.7 {source="Orphanet:533", source="Orphanet:533/btnt"}
xref: ICD10CM:A32.8 {source="Orphanet:533", source="Orphanet:533/btnt"}
xref: ICD10CM:A32.9 {source="Orphanet:533", source="Orphanet:533/btnt", source="DOID:11573"}
xref: icd11.foundation:419706488 {source="Orphanet:533", source="MONDO:equivalentTo"}
xref: ICD9:027.0 {source="DOID:11573"}
xref: MedDRA:10024641 {source="Orphanet:533", source="Orphanet:533/e"}
xref: MEDGEN:9788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008088 {source="Orphanet:533", source="EFO:0007347", source="MONDO:equivalentTo", source="Orphanet:533/e", source="DOID:11573"}
xref: NCIT:C82994 {source="MONDO:equivalentTo", source="DOID:11573"}
xref: NORD:1375 {source="MONDO:NORD"}
xref: Orphanet:533 {source="MONDO:equivalentTo"}
xref: SCTID:186315001 {source="DOID:11573"}
xref: SCTID:186320001 {source="DOID:11573"}
xref: SCTID:187320005 {source="DOID:11573"}
xref: SCTID:406591006 {source="DOID:11573"}
xref: SCTID:4241002 {source="DOID:11573"}
xref: UMLS:C0023860 {source="MEDGEN:9788", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:11573"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11573/inferred", source="EFO:0007347", source="MESH:D008088/inferred", source="MONDO:Redundant", source="NCIT:C82994", source="Orphanet:533"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1639 ! Listeria monocytogenes
relationship: disease_has_infectious_agent NCBITaxon:1639 ! Listeria monocytogenes
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
relationship: transmitted_by NCBITaxon:1637 ! Listeria

[Term]
id: MONDO:0005829
name: louping ill
def: "An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep." [MESH:D008146]
synonym: "Louping ill" EXACT [DOID:10250, ICD9CM:063.1]
xref: DOID:10250 {source="EFO:0007348", source="MONDO:equivalentTo"}
xref: ICD10CM:A84.8 {source="DOID:10250"}
xref: ICD9:063.1 {source="DOID:10250"}
xref: MESH:D008146 {source="EFO:0007348", source="MONDO:equivalentTo", source="DOID:10250"}
xref: SCTID:59350003 {source="DOID:10250"}
is_a: MONDO:0005583 {source="EFO:0007348", source="MESH:D008146/inferred"} ! non-human animal disease
is_a: MONDO:0024985 ! sheep disease
is_a: MONDO:0700053 {source="DOID:10250", source="MESH:D008146/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! viral infectious disease, non-human animal
relationship: disease_has_feature HP:0001254 ! Lethargy
relationship: disease_has_infectious_agent NCBITaxon:11086 {source="MONDO:Wikidata"} ! Louping ill virus
relationship: transmitted_by NCBITaxon:34613 ! Ixodes ricinus
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0005830
name: lumpy skin disease
def: "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin." [MESH:D008166]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3293 {source="EFO:0007349", source="MONDO:obsolete"}
xref: EFO:0007349 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:9815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008166 {source="EFO:0007349", source="MONDO:equivalentTo"}
xref: UMLS:C0024106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9815"}
is_a: MONDO:0005108 {source="EFO:0007349", source="MESH:D008166/inferred"} ! viral infectious disease

[Term]
id: MONDO:0005831
name: lymph node tuberculosis
def: "Tuberculosis of the lymph node." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "king's evil" EXACT [DOID:4889]
synonym: "lymph node tuberculosis" EXACT [DOID:4889, MONDO:patterns/location, NCIT:C26896]
synonym: "scrofula" EXACT [DOID:4889]
synonym: "tuberculous adenitis" EXACT [DOID:4889]
synonym: "tuberculous lymphadenopathy" EXACT [DOID:4889]
xref: DOID:4889 {source="MONDO:equivalentTo", source="EFO:0007350"}
xref: EFO:0007350 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A18.2 {source="DOID:4889"}
xref: MEDGEN:11946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014388 {source="MONDO:equivalentTo", source="DOID:4889", source="EFO:0007350"}
xref: MESH:D018601 {source="DOID:4889"}
xref: NCIT:C26896 {source="MONDO:equivalentTo", source="DOID:4889"}
xref: SCTID:10893003 {source="MONDO:equivalentTo", source="DOID:4889"}
xref: SCTID:186260002 {source="DOID:4889"}
xref: UMLS:C0041316 {source="MEDGEN:11946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="DOID:4889"} ! extrapulmonary tuberculosis
is_a: MONDO:0004928 {source="DOID:4889", source="MONDO:Redundant"} ! lymph node disorder
is_a: MONDO:0018076 {source="DOID:4889/inferred", source="EFO:0007350", source="MESH:D014388", source="MONDO:Redundant", source="NCIT:C26896"} ! tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0000029 ! lymph node
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy

[Term]
id: MONDO:0005832
name: lymphangitis
def: "Inflammation of the lymphatic vessels." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammation of lymphatic vessel" EXACT []
synonym: "lymphatic vessel inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:9317 {source="MONDO:equivalentTo", source="EFO:0007351"}
xref: EFO:0007351 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I89.1 {source="DOID:9317", source="MONDO:equivalentTo"}
xref: ICD9:457.2 {source="DOID:9317", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:7412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008205 {source="DOID:9317", source="MONDO:equivalentTo", source="EFO:0007351"}
xref: NCIT:C34790 {source="DOID:9317", source="MONDO:equivalentTo"}
xref: SCTID:1415005 {source="DOID:9317", source="MONDO:equivalentTo"}
xref: SCTID:266335009 {source="DOID:9317"}
xref: UMLS:C0024225 {source="MEDGEN:7412", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005833 {source="DOID:9317", source="MESH:D008205", source="MONDO:Redundant"} ! lymphatic system disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C34790/inferred"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001473 ! lymphatic vessel

[Term]
id: MONDO:0005833
name: lymphatic system disorder
def: "A disease involving the lymphatic part of lymphoid system." [https://orcid.org/0000-0002-6601-2165]
comment: Editor note: check alignment to anatomy, consider lymphoid system disease
subset: otar {source="MONDO:OTAR"}
synonym: "adenopathy" RELATED [DOID:75]
synonym: "disease of lymphatic part of lymphoid system" EXACT [MONDO:patterns/location_top]
synonym: "disease of lympoid system" RELATED [DOID:75]
synonym: "disease or disorder of lymphatic part of lymphoid system" EXACT []
synonym: "disorder of lymph node and lymphatics" EXACT [DOID:75]
synonym: "disorder of lymphatic part of lymphoid system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of lymphatic system" EXACT [DOID:75]
synonym: "disorder of lymphoid system" RELATED [DOID:75]
synonym: "glands, swollen" EXACT [NCIT:C50764]
synonym: "lymphadenopathy" NARROW [NCIT:C50764]
synonym: "lymphangiopathy" NARROW [DOID:75]
synonym: "lymphangiopathy, NOS" RELATED EXCLUDE [DOID:75]
synonym: "lymphatic disease" EXACT [DOID:75, MTH:461, MTH:NOCODE]
synonym: "lymphatic disorder" EXACT [DOID:75, NCIT:C3206]
synonym: "lymphatic part of lymphoid system disease" EXACT [MONDO:patterns/location]
synonym: "lymphatic part of lymphoid system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lympoid system disease" RELATED [DOID:75]
synonym: "swollen gland" EXACT [NCIT:C50764]
synonym: "swollen glands" EXACT [NCIT:C50764]
xref: DOID:75 {source="MONDO:equivalentTo"}
xref: EFO:0007352 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I80-I89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:892707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008206 {source="DOID:75", source="MONDO:equivalentTo"}
xref: MESH:NoID {source="EFO:0007352"}
xref: NCIT:C50764 {source="MONDO:equivalentTo"}
xref: SCTID:111590001 {source="DOID:75"}
xref: SCTID:155452000 {source="DOID:75"}
xref: SCTID:234087005 {source="DOID:75"}
xref: SCTID:266326002 {source="DOID:75"}
xref: SCTID:3305006 {source="DOID:75"}
xref: SCTID:362971004 {source="DOID:75", source="MONDO:equivalentTo"}
xref: UMLS:C4021976 {source="MEDGEN:892707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="DOID:75", source="MONDO:Entailed", source="MONDO:indirect"} ! immune system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0006558 ! lymphatic part of lymphoid system

[Term]
id: MONDO:0005834
name: lymphogranuloma venereum
def: "Infection with the organism Mycobacterium." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "climatic or tropical bubo" EXACT [DOID:13819]
synonym: "Durand-Nicolas-Favre disease" EXACT [DOID:13819]
synonym: "LGV" RELATED ABBREVIATION [GARD:0009545]
synonym: "lymph granuloma inguinale" EXACT [MONDO:patterns/location]
synonym: "lymphogranuloma inguinale" EXACT [DOID:13819]
synonym: "Poradenitis inguinale" EXACT [DOID:13819]
synonym: "strumous bubo" EXACT [DOID:13819]
xref: DOID:13819 {source="MONDO:equivalentTo", source="EFO:0007353"}
xref: EFO:0007353 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A55 {source="DOID:13819"}
xref: ICD9:099.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13819"}
xref: MEDGEN:44221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008219 {source="MONDO:equivalentTo", source="DOID:13819", source="EFO:0007353"}
xref: NCIT:C26822 {source="MONDO:equivalentTo", source="DOID:13819"}
xref: SCTID:154391003 {source="DOID:13819"}
xref: SCTID:186946009 {source="MONDO:equivalentTo", source="DOID:13819"}
xref: SCTID:266213004 {source="DOID:13819"}
xref: SCTID:89427004 {source="DOID:13819"}
xref: UMLS:C0024286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44221"}
is_a: MONDO:0000315 {source="DOID:13819", source="MONDO:Redundant", source="MONDO:indirect"} ! commensal bacterial infectious disease
is_a: MONDO:0005550 {source="DOID:13819/inferred", source="EFO:0007353/inferred", source="MONDO:Redundant", source="NCIT:C26822"} ! infectious disease
is_a: MONDO:0005701 {source="MONDO:Redundant"} ! chlamydia trachomatis infectious disease
is_a: MONDO:0005777 {source="DOID:13819", source="MONDO:Entailed", source="MONDO:Redundant"} ! granuloma inguinale
intersection_of: MONDO:0005777 ! granuloma inguinale
intersection_of: disease_has_location UBERON:0002391 ! lymph
relationship: disease_has_infectious_agent NCBITaxon:471472 {source="MONDO:Wikidata"} ! Chlamydia trachomatis L2/434/Bu
relationship: disease_has_infectious_agent NCBITaxon:813 {source="MONDO:Wikidata"} ! Chlamydia trachomatis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum" xsd:anyURI {source="GARD:0009545"}

[Term]
id: MONDO:0005835
name: Lynch syndrome
def: "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." [NCIT:P378]
comment: Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1386"}
subset: ordo_disorder {source="Orphanet:144"}
subset: orphanet_rare {source="Orphanet:144"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coca 1" RELATED EXCLUDE [DOID:3883]
synonym: "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494]
synonym: "Hereditary colorectal endometrial cancer syndrome" EXACT [NCIT:C8494]
synonym: "hereditary defective mismatch repair syndrome" EXACT [DOID:3883, NCIT:C8494]
synonym: "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494]
synonym: "hereditary non-polyposis colon cancer type 1" EXACT [DOID:3883]
synonym: "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494]
synonym: "hereditary nonpolyposis colorectal cancer" BROAD [DOID:3883]
synonym: "hereditary nonpolyposis colorectal neoplasm" BROAD [DOID:3883]
synonym: "HNPCC - hereditary nonpolyposis colon cancer" BROAD [DOID:3883]
synonym: "Lynch syndrome" EXACT CLINGEN_LABEL []
xref: DOID:3883 {source="MONDO:equivalentTo", source="EFO:0007354"}
xref: GARD:9905 {source="MONDO:GARD"}
xref: ICD10CM:D48.9 {source="Orphanet:144/attributed", source="Orphanet:144/ntbt", source="Orphanet:144"}
xref: MedDRA:10051981 {source="Orphanet:144/e", source="Orphanet:144"}
xref: MEDGEN:1633554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003123 {source="DOID:3883", source="Orphanet:144/e", source="Orphanet:144", source="EFO:0007354"}
xref: NCIT:C120083 {source="DOID:3883"}
xref: NCIT:C8494 {source="DOID:3883", source="MONDO:equivalentTo"}
xref: NORD:1386 {source="MONDO:NORD"}
xref: Orphanet:144 {source="DOID:3883", source="MONDO:equivalentTo"}
xref: SCTID:315058005 {source="DOID:3883"}
xref: SCTID:716318002 {source="MONDO:equivalentTo"}
xref: UMLS:C4552100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633554"}
is_a: MONDO:0000426 {source="DOID:3883", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0018630 {source="NCIT:C8494", source="Orphanet:144"} ! hereditary nonpolyposis colon cancer
relationship: has_characteristic HP:0000006 {source="Orphanet:144"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1673" xsd:anyURI
property_value: seeAlso "https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc" xsd:string
property_value: seeAlso "https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria" xsd:string

[Term]
id: MONDO:0005836
name: male reproductive organ cancer
def: "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma." [NCIT:C8561]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of male reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "male genital cancer" EXACT [DOID:3856]
synonym: "male genital neoplasm" BROAD [DOID:3856]
synonym: "Male reprod. system cancer, NOS" RELATED EXCLUDE [NCIT:C8561]
synonym: "male reproductive organ cancer" EXACT [MONDO:patterns/location]
synonym: "Male reproductive system cancer, NOS" RELATED EXCLUDE [NCIT:C8561]
synonym: "male reproductive system neoplasm" BROAD [DOID:3856]
synonym: "malignant male reproductive organ neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Male reproductive system neoplasm" EXACT [NCIT:C8561]
synonym: "malignant Male reproductive system tumor" EXACT [NCIT:C8561]
synonym: "malignant Male reproductive system tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of male genital organ" EXACT [DOID:3856]
synonym: "malignant neoplasm of male genital organ or tract" EXACT [DOID:3856]
synonym: "malignant neoplasm of male genital organ, NOS" RELATED EXCLUDE [DOID:3856]
synonym: "malignant neoplasm of male genital organ, site unspecified" EXACT [DOID:3856, ICD9CM:187.9]
synonym: "malignant neoplasm of male genital organs" EXACT [DOID:3856]
synonym: "malignant neoplasm of male reproductive organ" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of Male reproductive system" EXACT [NCIT:C8561]
synonym: "malignant neoplasm of the Male reproductive system" EXACT [NCIT:C8561]
synonym: "malignant tumor of male genital organ" EXACT [DOID:3856, MTH:U001031]
synonym: "malignant tumor of Male reproductive system" EXACT [NCIT:C8561]
synonym: "malignant tumor of male reproductive system" EXACT [DOID:3856, NCIT:C8561]
synonym: "malignant tumor of the Male reproductive system" EXACT [NCIT:C8561]
synonym: "malignant tumour of male genital organ" EXACT OMO:0003005 []
synonym: "malignant tumour of Male reproductive system" EXACT OMO:0003005 []
synonym: "malignant tumour of male reproductive system" EXACT OMO:0003005 []
synonym: "malignant tumour of the Male reproductive system" EXACT OMO:0003005 []
synonym: "neoplasm of male genital organ" BROAD [DOID:3856]
synonym: "tumor of male reproductive system" BROAD [DOID:3856, NCIT:C3054]
synonym: "tumour of male reproductive system" BROAD OMO:0003005 []
xref: DOID:3856 {source="MONDO:equivalentTo", source="EFO:0007355"}
xref: EFO:0007355 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C60-C63 {source="DOID:3856"}
xref: ICD10CM:C63.9 {source="DOID:3856"}
xref: ICD9:187.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:187.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3856"}
xref: MEDGEN:102279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005834 {source="MONDO:equivalentTo", source="DOID:3856", source="EFO:0007355"}
xref: NCIT:C3054 {source="DOID:3856"}
xref: NCIT:C8561 {source="MONDO:equivalentTo", source="DOID:3856"}
xref: SCTID:126895004 {source="DOID:3856"}
xref: SCTID:190127000 {source="DOID:3856"}
xref: SCTID:190130007 {source="DOID:3856"}
xref: SCTID:363515000 {source="MONDO:equivalentTo", source="DOID:3856"}
xref: SCTID:93885006 {source="DOID:3856"}
xref: UMLS:C0153606 {source="MONDO:equivalentTo", source="MEDGEN:102279", source="MONDO:MEDGEN"}
is_a: MONDO:0002149 {source="DOID:3856", source="MONDO:Redundant", source="NCIT:C8561"} ! reproductive system cancer
is_a: MONDO:0003150 {source="MESH:D005834", source="MONDO:Entailed", source="NCIT:C8561/inferred"} ! male reproductive system disorder
is_a: MONDO:0024582 {source="MONDO:Redundant", source="NCIT:C8561"} ! male reproductive system neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003135 ! male reproductive organ

[Term]
id: MONDO:0005837
name: mandibular cancer
def: "A malignant neoplasm involving the mandible" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of mandible" EXACT [MONDO:patterns/cancer]
synonym: "malignant mandible neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of inferior maxilla" EXACT [DOID:2338]
synonym: "malignant neoplasm of lower jaw bone" EXACT [DOID:2338, NCIT:C35178]
synonym: "malignant neoplasm of mandible" EXACT [DOID:2338, MONDO:patterns/cancer]
synonym: "mandible cancer" EXACT [DOID:2338, MONDO:patterns/location]
synonym: "mandibular neoplasm" BROAD [DOID:2338]
synonym: "neoplasm of mandible" BROAD [DOID:2338]
xref: DOID:2338 {source="EFO:0007356", source="MONDO:equivalentTo"}
xref: EFO:0007356 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C41.1 {source="DOID:2338"}
xref: ICD9:170.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2338"}
xref: MEDGEN:57788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008339 {source="EFO:0007356", source="MONDO:equivalentTo", source="DOID:2338"}
xref: NCIT:C35178 {source="MONDO:equivalentTo", source="DOID:2338"}
xref: SCTID:126551000 {source="DOID:2338"}
xref: SCTID:187915001 {source="DOID:2338"}
xref: SCTID:448668007 {source="MONDO:equivalentTo", source="DOID:2338"}
xref: UMLS:C0153511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57788"}
is_a: MONDO:0002131 {source="DOID:2338", source="MESH:D008339", source="MONDO:Entailed", source="MONDO:Redundant"} ! jaw cancer
is_a: MONDO:0005381 {source="DOID:2338/inferred", source="MESH:D008339/inferred", source="MONDO:Entailed"} ! bone disorder
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001684 ! mandible

[Term]
id: MONDO:0005838
name: mansonelliasis
def: "A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia." [NCIT:P378]
subset: gard_rare {source="GARD:8216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2459"}
subset: orphanet_rare {source="Orphanet:2459"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mansonella perstans infections" RELATED [GARD:0008216]
synonym: "Mansonellosis" EXACT [Orphanet:2459]
xref: DOID:1081 {source="EFO:0007357", source="MONDO:equivalentTo"}
xref: EFO:0007357 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8216 {source="MONDO:GARD"}
xref: ICD10CM:B74.4 {source="MONDO:equivalentTo", source="Orphanet:2459", source="DOID:1081", source="Orphanet:2459/e"}
xref: icd11.foundation:1504434405 {source="MONDO:equivalentTo", source="Orphanet:2459"}
xref: MEDGEN:6213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008368 {source="EFO:0007357", source="MONDO:equivalentTo", source="DOID:1081"}
xref: NCIT:C84882 {source="MONDO:equivalentTo", source="DOID:1081"}
xref: Orphanet:2459 {source="MONDO:equivalentTo"}
xref: SCTID:240849009 {source="MONDO:equivalentTo", source="DOID:1081"}
xref: UMLS:C0024759 {source="MEDGEN:6213", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="DOID:1081/inferred", source="MESH:D008368/inferred", source="MONDO:Redundant", source="NCIT:C84882"} ! parasitic infectious disease
is_a: MONDO:0016075 {source="DOID:1081", source="ICD10CM:B74.4", source="MESH:D008368", source="Orphanet:2459"} ! filariasis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis" xsd:anyURI {source="GARD:0008216"}

[Term]
id: MONDO:0005839
name: obsolete Marburg hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0020500

[Term]
id: MONDO:0005840
name: obsolete mast-cell leukemia
is_obsolete: true
replaced_by: MONDO:0020334

[Term]
id: MONDO:0005841
name: maxillary neoplasm
def: "Cancer or tumors of the maxilla or upper jaw." [MESH:D008441]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone of upper jaw neoplasm" EXACT []
synonym: "bone of upper jaw neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "bone of upper jaw tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "bone of upper jaw tumour" EXACT OMO:0003005 []
synonym: "maxillary cancer" RELATED [DOID:4618]
synonym: "maxillary neoplasm" EXACT [DOID:4618]
synonym: "neoplasm of bone of upper jaw" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of bone of upper jaw" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of bone of upper jaw" EXACT OMO:0003005 []
synonym: "upper jaw bone cancer" RELATED [DOID:4618]
xref: DOID:4618 {source="MONDO:equivalentTo", source="EFO:0007360"}
xref: EFO:0007360 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:44312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008441 {source="MONDO:equivalentTo", source="EFO:0007360", source="DOID:4618"}
xref: SCTID:126550004 {source="MONDO:equivalentTo", source="DOID:4618"}
xref: UMLS:C0024954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44312"}
is_a: MONDO:0005381 {source="DOID:4618/inferred", source="MESH:D008441/inferred", source="MONDO:Entailed"} ! bone disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0011597 ! bone of upper jaw

[Term]
id: MONDO:0005842
name: maxillary sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2051 {source="MONDO:equivalentTo", source="EFO:0007361"}
xref: EFO:0007361 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J32.0 {source="DOID:2051"}
xref: MEDGEN:44313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015523 {source="MONDO:equivalentTo", source="EFO:0007361", source="DOID:2051"}
xref: NCIT:C34809 {source="MONDO:equivalentTo", source="DOID:2051"}
xref: SCTID:275484005 {source="DOID:2051"}
xref: SCTID:88348008 {source="MONDO:equivalentTo", source="DOID:2051"}
xref: UMLS:C0024959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44313"}
is_a: MONDO:0005961 {source="DOID:2051", source="EFO:0007361", source="MESH:D015523", source="MONDO:Redundant", source="NCIT:C34809"} ! sinusitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0005843
name: mediastinal cancer
def: "A malignant neoplasm involving the mediastinum" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of mediastinum" EXACT [MONDO:patterns/cancer, NCIT:C3549]
synonym: "cancer of the mediastinum" EXACT [NCIT:C3549]
synonym: "malignant mediastinal neoplasm" EXACT [NCIT:C3549]
synonym: "malignant mediastinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3549]
synonym: "malignant mediastinal tumor" EXACT [NCIT:C3549]
synonym: "malignant mediastinal tumour" EXACT OMO:0003005 []
synonym: "malignant mediastinum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of mediastinum" EXACT [MONDO:patterns/cancer, NCIT:C3549]
synonym: "malignant neoplasm of the mediastinum" EXACT [NCIT:C3549]
synonym: "malignant tumor of mediastinum" EXACT [NCIT:C3549]
synonym: "malignant tumor of the mediastinum" EXACT [NCIT:C3549]
synonym: "malignant tumour of mediastinum" EXACT OMO:0003005 []
synonym: "malignant tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "mediastinal cancer" EXACT [NCIT:C3549]
synonym: "mediastinal tumor" BROAD [DOID:5559, NCIT:C3221]
synonym: "mediastinal tumour" BROAD OMO:0003005 []
synonym: "mediastinum cancer" EXACT [DOID:5559, MONDO:patterns/location]
synonym: "neoplasm of mediastinum" RELATED EXCLUDE [DOID:5559]
synonym: "tumor of mediastinum" BROAD [DOID:5559]
synonym: "tumour of mediastinum" BROAD OMO:0003005 []
xref: DOID:5559 {source="MONDO:equivalentTo", source="EFO:0007362"}
xref: EFO:0007362 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C38.3 {source="DOID:5559"}
xref: ICD9:164.9 {source="DOID:5559", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008479 {source="DOID:5559", source="MONDO:equivalentTo", source="EFO:0007362"}
xref: NCIT:C3221 {source="DOID:5559"}
xref: NCIT:C3549 {source="DOID:5559", source="MONDO:equivalentTo"}
xref: SCTID:126725000 {source="DOID:5559"}
xref: SCTID:187889002 {source="DOID:5559"}
xref: SCTID:190097009 {source="DOID:5559"}
xref: SCTID:363494000 {source="DOID:5559", source="MONDO:equivalentTo"}
xref: SCTID:93891008 {source="DOID:5559"}
xref: SCTID:94147001 {source="DOID:5559"}
xref: UMLS:C0153504 {source="MEDGEN:56308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003274 {source="DOID:5559", source="MONDO:Redundant", source="NCIT:C3549"} ! thoracic cancer
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C3549"} ! neoplasm of mediastinum
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0005844
name: chalazion
def: "An eyelid cyst caused by the blockage of a meibomian gland." [NCIT:C26717]
subset: otar {source="MONDO:OTAR"}
synonym: "chalazia" RELATED [MESH:D017043]
synonym: "chalazion" EXACT [DOID:9903, ICD9CM:373.2, NCIT:C26717]
synonym: "cyst, Meibomian" RELATED [MESH:D017043]
synonym: "Meibomian cyst" RELATED [MESH:D017043]
synonym: "meibomian gland lipogranuloma" EXACT [DOID:9903]
xref: DOID:9903 {source="MONDO:equivalentTo", source="EFO:0007363"}
xref: EFO:0007363 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H00.1 {source="MONDO:equivalentTo", source="DOID:9903"}
xref: ICD9:373.2 {source="MONDO:equivalentTo", source="DOID:9903", source="MONDO:i2s"}
xref: MEDGEN:869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017043 {source="MONDO:equivalentTo", source="DOID:9903", source="EFO:0007363"}
xref: NCIT:C26717 {source="MONDO:equivalentTo", source="DOID:9903"}
xref: SCTID:1482004 {source="MONDO:equivalentTo", source="DOID:9903"}
xref: SCTID:155172004 {source="DOID:9903"}
xref: SCTID:155173009 {source="DOID:9903"}
xref: SCTID:267736000 {source="DOID:9903"}
xref: SCTID:397514009 {source="DOID:9903"}
xref: UMLS:C0007933 {source="MEDGEN:869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004785 {source="DOID:9903"} ! blepharitis
relationship: disease_has_location UBERON:0001818 ! tarsal gland

[Term]
id: MONDO:0005845
name: meningoencephalitis
def: "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:10554 {source="MONDO:equivalentTo", source="EFO:0007364"}
xref: EFO:0007364 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A69.22 {source="DOID:10554"}
xref: ICD10CM:G04 {source="DOID:10554"}
xref: MEDGEN:6301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008590 {source="DOID:10554", source="MONDO:equivalentTo", source="EFO:0007364"}
xref: NCIT:C34813 {source="DOID:10554", source="MONDO:equivalentTo"}
xref: SCTID:7125002 {source="DOID:10554", source="MONDO:equivalentTo"}
xref: UMLS:C0025309 {source="MEDGEN:6301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019956 {source="MESH:D008590", source="MONDO:Entailed"} ! encephalitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000955 ! brain
intersection_of: disease_has_inflammation_site UBERON:0010743 ! meningeal cluster

[Term]
id: MONDO:0005846
name: microsporidiosis
def: "A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting." [NCIT:P378]
subset: gard_rare {source="GARD:3655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2552"}
subset: orphanet_rare {source="Orphanet:2552"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection by Microspora" EXACT [DOID:4271]
synonym: "infection by Microsporea" EXACT [DOID:4271]
synonym: "infection by Microsporida" EXACT [DOID:4271]
synonym: "Microsporidia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Microsporidia disease or disorder" EXACT []
synonym: "Microsporidia infection" EXACT [NCIT:C84891]
synonym: "Microsporidia infectious disease" EXACT []
synonym: "Microsporidiasis" RELATED [GARD:0003655]
xref: DOID:4271 {source="MONDO:equivalentTo", source="EFO:0007366"}
xref: EFO:0007366 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3655 {source="MONDO:GARD"}
xref: ICD10CM:B60.8 {source="Orphanet:2552/ntbt", source="Orphanet:2552", source="DOID:4271"}
xref: icd11.foundation:1021483422 {source="Orphanet:2552", source="MONDO:equivalentTo"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10053982 {source="Orphanet:2552", source="Orphanet:2552/e"}
xref: MEDGEN:39278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016881 {source="Orphanet:2552", source="MONDO:equivalentTo", source="Orphanet:2552/e", source="DOID:4271", source="EFO:0007366"}
xref: NCIT:C84891 {source="MONDO:equivalentTo", source="DOID:4271"}
xref: Orphanet:2552 {source="MONDO:equivalentTo"}
xref: SCTID:61842000 {source="DOID:4271"}
xref: SCTID:65883009 {source="DOID:4271"}
xref: SCTID:699676006 {source="MONDO:equivalentTo", source="DOID:4271"}
xref: SCTID:78142009 {source="DOID:4271"}
xref: UMLS:C0085407 {source="MONDO:equivalentTo", source="MEDGEN:39278", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="DOID:4271/inferred", source="MESH:D016881", source="MONDO:Redundant", source="NCIT:C84891"} ! fungal infectious disease
is_a: MONDO:0002312 {source="DOID:4271"} ! opportunistic mycosis
is_a: MONDO:0005135 {source="Orphanet:2552"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6029 ! Microsporidia
relationship: disease_has_infectious_agent NCBITaxon:6029 ! Microsporidia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis" xsd:anyURI {source="GARD:0003655"}

[Term]
id: MONDO:0005847
name: middle lobe syndrome
def: "Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)" [MESH:D008878]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2810 {source="EFO:0007367", source="MONDO:equivalentTo"}
xref: EFO:0007367 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008878 {source="EFO:0007367", source="MONDO:equivalentTo", source="DOID:2810"}
xref: SCTID:28295001 {source="MONDO:equivalentTo", source="DOID:2810"}
xref: UMLS:C0026069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6393"}
is_a: MONDO:0005275 {source="DOID:2810", source="EFO:0007367", source="MESH:D008878/inferred"} ! lung disorder
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy

[Term]
id: MONDO:0005848
name: miliary tuberculosis
def: "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute miliary tuberculosis" EXACT [DOID:9861, ICD9CM:018.0]
synonym: "disseminated tuberculosis" EXACT [DOID:9861]
synonym: "generalised tuberculosis" EXACT OMO:0003005 []
synonym: "generalized tuberculosis" EXACT [DOID:9861]
synonym: "tuberculosis miliaris disseminata" EXACT [DOID:9861]
xref: DOID:9861 {source="EFO:0007368", source="MONDO:equivalentTo"}
xref: EFO:0007368 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A19 {source="MONDO:equivalentTo", source="DOID:9861"}
xref: ICD10CM:A19.9 {source="DOID:9861"}
xref: ICD9:018 {source="DOID:9861"}
xref: ICD9:018.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:018.9 {source="DOID:9861"}
xref: ICD9:018.90 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9861"}
xref: MEDGEN:21726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014391 {source="EFO:0007368", source="MONDO:equivalentTo", source="DOID:9861"}
xref: NCIT:C35086 {source="MONDO:equivalentTo", source="DOID:9861"}
xref: SCTID:154291001 {source="DOID:9861"}
xref: SCTID:186280001 {source="DOID:9861"}
xref: SCTID:187295007 {source="DOID:9861"}
xref: SCTID:47604008 {source="MONDO:equivalentTo", source="DOID:9861"}
xref: UMLS:C0041321 {source="MEDGEN:21726", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="DOID:9861"} ! extrapulmonary tuberculosis
is_a: MONDO:0018076 {source="DOID:9861/inferred", source="EFO:0007368", source="ICD10CM:A19", source="MESH:D014391", source="MONDO:Redundant", source="NCIT:C35086"} ! tuberculosis

[Term]
id: MONDO:0005849
name: obsolete milk allergic reaction
def: "OBSOLETE. Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase." [MESH:D016269]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: -none
synonym: "milk allergic reaction" EXACT [DOID:4376]
synonym: "milk allergy" RELATED [DOID:4376]
xref: DOID:4376 {source="EFO:0007369", source="MONDO:obsoleteEquivalent"}
xref: MESH:D016269 {source="DOID:4376", source="EFO:0007369", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5914" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0005850
name: milker's nodule
def: "Virus diseases caused by the poxviridae." [MESH:D011213]
synonym: "milker nodule" EXACT [DOID:8729]
synonym: "milkers' node" EXACT [DOID:8729]
synonym: "Paravaccinia" EXACT [DOID:8729]
synonym: "Pseudocowpox" RELATED [DOID:8729, ICD9CM:051.1]
xref: DOID:8729 {source="MONDO:equivalentTo", source="EFO:0007370"}
xref: ICD10CM:B08.04 {source="DOID:8729"}
xref: ICD9:051.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8729"}
xref: ICD9:051.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8729"}
xref: MEDGEN:44449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011213 {source="MONDO:equivalentTo", source="DOID:8729", source="EFO:0007370"}
xref: SCTID:154344005 {source="DOID:8729"}
xref: SCTID:186507000 {source="DOID:8729"}
xref: SCTID:266193008 {source="DOID:8729"}
xref: SCTID:27240009 {source="MONDO:equivalentTo", source="DOID:8729"}
xref: UMLS:C0026143 {source="MEDGEN:44449", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:8729", source="EFO:0007370", source="MESH:D011213/inferred"} ! viral infectious disease
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: disease_has_infectious_agent NCBITaxon:129726 ! Pseudocowpox virus

[Term]
id: MONDO:0005851
name: Miller Fisher syndrome
def: "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." [NCIT:P378]
subset: gard_rare {source="GARD:3668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98919"}
subset: orphanet_rare {source="Orphanet:98919"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cranial variant of GBS" EXACT [Orphanet:98919]
synonym: "cranial variant of Guillain-Barre syndrome" EXACT [Orphanet:98919]
synonym: "cranial variant of Guillain-Barré syndrome" EXACT [Orphanet:98919]
synonym: "Fisher syndrome" EXACT [MESH:D019846, Orphanet:98919]
synonym: "Fisher's syndrome" EXACT [DOID:12889]
synonym: "Guillain Barre syndrome, Miller Fisher variant" EXACT [MESH:D019846]
synonym: "Guillain-Barre syndrome, Miller Fisher variant" EXACT [MESH:D019846]
synonym: "Miller Fisher variant of Guillain Barre syndrome" EXACT [MESH:D019846]
synonym: "Miller-Fisher syndrome" EXACT [MESH:D019846, MONDO:0020350]
synonym: "Miller-Fisher variant of Guillain-Barre syndrome" EXACT [DOID:12889]
synonym: "ophthalmoplegia, ataxia and areflexia syndrome" EXACT [MESH:D019846]
synonym: "syndrome, Fisher" EXACT [MESH:D019846]
synonym: "syndrome, Miller Fisher" EXACT [MESH:D019846]
synonym: "syndrome, Miller-Fisher" EXACT [MESH:D019846]
xref: DOID:12889 {source="MONDO:equivalentTo", source="EFO:0007371"}
xref: EFO:0007371 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3668 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="DOID:12889", source="Orphanet:98919/ntbt", source="Orphanet:98919"}
xref: MedDRA:10049567 {source="Orphanet:98919/e", source="Orphanet:98919"}
xref: MEDGEN:95994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019846 {source="DOID:12889", source="Orphanet:98919/e", source="MONDO:equivalentTo", source="EFO:0007371", source="Orphanet:98919"}
xref: NCIT:C116958 {source="DOID:12889", source="MONDO:equivalentTo"}
xref: Orphanet:98919 {source="MONDO:equivalentTo"}
xref: SCTID:1767005 {source="DOID:12889", source="MONDO:equivalentTo"}
xref: SCTID:193175006 {source="DOID:12889"}
xref: SCTID:230548007 {source="DOID:12889"}
xref: UMLS:C0393799 {source="MEDGEN:95994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C116958"} ! syndromic disease
is_a: MONDO:0002427 {source="MESH:D019846"} ! cerebellar disorder
is_a: MONDO:0007179 {source="DOID:12889/inferred", source="EFO:0007371/inferred", source="MESH:D019846/inferred", source="NCIT:C116958"} ! autoimmune disease

[Term]
id: MONDO:0005852
name: mitral valve stenosis
def: "Narrowing of the left atrioventricular mitral orifice." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "mitral stenoses" RELATED [MESH:D008946]
synonym: "mitral stenosis" EXACT [DOID:1754, MESH:D008946]
synonym: "mitral valve stenoses" RELATED [MESH:D008946]
synonym: "stenoses, mitral" RELATED [MESH:D008946]
synonym: "stenoses, mitral valve" RELATED [MESH:D008946]
synonym: "stenosis, mitral" RELATED [MESH:D008946]
synonym: "stenosis, mitral valve" RELATED [MESH:D008946]
synonym: "valve stenoses, mitral" RELATED [MESH:D008946]
synonym: "valve stenosis, mitral" RELATED [MESH:D008946]
xref: DOID:1754 {source="MONDO:equivalentTo", source="EFO:0007372"}
xref: EFO:0007372 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:44466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008946 {source="MONDO:equivalentTo", source="DOID:1754", source="EFO:0007372"}
xref: NANDO:1200963 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200302 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50654 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:1754"}
xref: SCTID:155277002 {source="DOID:1754"}
xref: SCTID:194725005 {source="DOID:1754"}
xref: SCTID:79619009 {source="MONDO:equivalentTo", source="DOID:1754"}
xref: UMLS:C0026269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44466"}
is_a: MONDO:0002869 {source="DOID:1754/inferred", source="MESH:D008946"} ! heart valve disorder
is_a: MONDO:0003767 {source="DOID:1754"} ! mitral valve disorder
relationship: disease_has_feature HP:0001718 ! Mitral stenosis

[Term]
id: MONDO:0005853
name: malignant mixed neoplasm
def: "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." [NCIT:C3729]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant mixed cancer" EXACT [DOID:154]
synonym: "malignant mixed neoplasm" EXACT [DOID:154, MONDO:0006293, NCIT:C3729]
synonym: "malignant mixed tumor" EXACT [DOID:154, MESH:D018198, NCIT:C3729]
synonym: "malignant mixed tumors" RELATED [MESH:D018198]
synonym: "malignant mixed tumour" EXACT OMO:0003005 []
synonym: "malignant mixed tumours" RELATED OMO:0003005 []
synonym: "mixed cell type cancer" BROAD [DOID:154]
synonym: "mixed neoplasm" BROAD [DOID:154]
synonym: "mixed neoplasm, malignant" EXACT [MONDO:patterns/malignant]
synonym: "mixed tumor" BROAD [DOID:154, NCIT:C6930]
synonym: "mixed tumor, malignant" EXACT [DOID:154]
synonym: "mixed tumor, malignant (morphologic abnormality)" EXACT [DOID:154]
synonym: "mixed tumor, malignant, NOS (morphologic abnormality)" EXACT [DOID:154]
synonym: "mixed tumors, malignant" RELATED [MESH:D018198]
synonym: "mixed tumour" BROAD OMO:0003005 []
synonym: "tumor, malignant mixed" RELATED [MESH:D018198]
synonym: "tumor, mixed, malignant" EXACT [NCIT:C3729]
synonym: "tumors, malignant mixed" RELATED [MESH:D018198]
xref: DOID:154 {source="MONDO:equivalentTo", source="EFO:0007373"}
xref: EFO:1000356 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8940/3 {source="NCIT:C3729"}
xref: MEDGEN:64618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018198 {source="MONDO:equivalentTo", source="DOID:154", source="EFO:0007373"}
xref: NCIT:C3729 {source="MONDO:equivalentTo", source="EFO:1000356"}
xref: SCTID:189802003 {source="DOID:154"}
xref: SCTID:8145008 {source="DOID:154"}
xref: UMLS:C0206625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64618"}
is_a: MONDO:0004992 {source="DOID:154", source="DOID:154/inferred", source="EFO:0007373/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! cancer
is_a: MONDO:0021043 {source="MESH:D018198", source="MONDO:Redundant", source="NCIT:C3729"} ! mixed neoplasm
intersection_of: MONDO:0021043 ! mixed neoplasm
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0005854
name: mixed connective tissue disease
def: "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms." [https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease]
subset: gard_rare {source="GARD:7051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1451"}
subset: ordo_disorder {source="Orphanet:809"}
subset: orphanet_rare {source="Orphanet:809"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "connective tissue disease overlap syndrome" EXACT [DOID:3492]
synonym: "MCTD" EXACT ABBREVIATION [Orphanet:809]
synonym: "mixed collagen vascular disease" EXACT [DOID:3492]
synonym: "sharp syndrome" EXACT [Orphanet:809]
xref: DOID:3492 {source="MONDO:equivalentTo", source="EFO:0007374"}
xref: EFO:0007374 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7051 {source="MONDO:GARD"}
xref: ICD10CM:M35.1 {source="Orphanet:809/e", source="DOID:3492", source="Orphanet:809"}
xref: icd11.foundation:891652224 {source="MONDO:equivalentTo", source="Orphanet:809"}
xref: MedDRA:10027754 {source="Orphanet:809/e", source="Orphanet:809"}
xref: MEDGEN:10069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008947 {source="Orphanet:809/e", source="MONDO:equivalentTo", source="DOID:3492", source="Orphanet:809", source="EFO:0007374"}
xref: NANDO:1200278 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200430 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84892 {source="MONDO:equivalentTo", source="DOID:3492"}
xref: NORD:1451 {source="MONDO:NORD"}
xref: Orphanet:809 {source="MONDO:equivalentTo"}
xref: SCTID:33110008 {source="DOID:3492"}
xref: SCTID:398021003 {source="DOID:3492"}
xref: SCTID:398049005 {source="MONDO:equivalentTo", source="DOID:3492"}
xref: UMLS:C0026272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10069"}
is_a: MONDO:0005554 {source="NCIT:C84892"} ! rheumatic disorder
is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C84892"} ! autoimmune disease
is_a: MONDO:0016663 {source="Orphanet:809"} ! overlapping connective tissue disease
relationship: excluded_subClassOf MONDO:0005172 {source="EFO:0007374", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal system disorder
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:809", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease" xsd:anyURI {source="GARD:0007051"}

[Term]
id: MONDO:0005855
name: molluscum contagiosum
def: "A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)" [MESH:D008976]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8867 {source="MONDO:equivalentTo", source="EFO:0007375"}
xref: EFO:0007375 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B08.1 {source="DOID:8867", source="MONDO:equivalentTo"}
xref: ICD9:078.0 {source="DOID:8867", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008976 {source="DOID:8867", source="MONDO:equivalentTo", source="EFO:0007375"}
xref: SCTID:154360009 {source="DOID:8867"}
xref: SCTID:40070004 {source="DOID:8867", source="MONDO:equivalentTo"}
xref: UMLS:C0026393 {source="MEDGEN:10081", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:8867", source="EFO:0007375", source="MESH:D008976/inferred"} ! viral infectious disease
relationship: disease_has_infectious_agent NCBITaxon:10279 ! Molluscum contagiosum virus

[Term]
id: MONDO:0005856
name: Mononegavirales infectious disease
def: "Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections." [MESH:D018701]
synonym: "Mononegavirales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mononegavirales disease or disorder" EXACT []
xref: DOID:1983 {source="MONDO:obsolete", source="EFO:0007376"}
xref: MEDGEN:67005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018701 {source="MONDO:equivalentTo", source="EFO:0007376"}
xref: UMLS:C0242916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67005"}
is_a: MONDO:0005108 {source="EFO:0007376", source="MESH:D018701/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11157 ! disease has primary infectious agent Mononegavirales

[Term]
id: MONDO:0005857
name: morbillivirus infectious disease
def: "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." [MESH:D018185]
subset: otar {source="MONDO:OTAR"}
synonym: "Morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Morbillivirus disease or disorder" EXACT []
synonym: "Morbillivirus infectious disease" EXACT []
xref: DOID:3533 {source="MONDO:obsolete", source="EFO:0007377"}
xref: EFO:0007377 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:61642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018185 {source="MONDO:equivalentTo", source="EFO:0007377"}
xref: UMLS:C0206614 {source="MEDGEN:61642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007377", source="MESH:D018185/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11229 ! disease has primary infectious agent Morbillivirus

[Term]
id: MONDO:0005858
name: mucinous cystadenocarcinoma
def: "An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." [NCIT:C3776]
subset: otar {source="MONDO:OTAR"}
synonym: "mucinous cystadenocarcinoma" EXACT [NCIT:C3776]
synonym: "mucinous cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3603]
synonym: "mucinous cystadenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3603]
synonym: "Pseudomucinous adenocarcinoma" EXACT [NCIT:C3776]
synonym: "Pseudomucinous cystadenocarcinoma" EXACT [DOID:3603, NCIT:C3776]
xref: DOID:3603 {source="EFO:0007378", source="MONDO:equivalentTo"}
xref: EFO:0007378 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8470/3 {source="NCIT:C3776"}
xref: MEDGEN:60211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018282 {source="EFO:0007378", source="MONDO:equivalentTo", source="DOID:3603"}
xref: NCIT:C3776 {source="MONDO:equivalentTo", source="DOID:3603", source="MONDO:exact-label-match"}
xref: SCTID:189692006 {source="DOID:3603"}
xref: SCTID:79143006 {source="DOID:3603"}
xref: UMLS:C0206699 {source="MEDGEN:60211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004957 {source="NCIT:C3776"} ! mucinous adenocarcinoma
is_a: MONDO:0005596 {source="DOID:3603", source="EFO:0007378", source="MESH:D018282", source="NCIT:C3776"} ! cystadenocarcinoma

[Term]
id: MONDO:0005859
name: mucocutaneous leishmaniasis
def: "The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust." [NCIT:C34769]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "American cutaneous leishmaniasis" EXACT [DOID:9155, NCIT:C34769]
synonym: "American mucocutaneous leishmaniasis" EXACT [DOID:9155]
synonym: "cutaneous leishmaniasis, American" EXACT [DOID:9155, ICD9CM:085.4]
synonym: "mucocutaneous leishmaniasis, (American)" EXACT [DOID:9155, ICD9CM:085.5]
synonym: "mucocutaneous leishmaniasis, American" EXACT [DOID:9155]
synonym: "New World cutaneous leishmaniasis" EXACT [DOID:9155]
xref: DOID:9155 {source="EFO:0007379", source="MONDO:equivalentTo"}
xref: EFO:0007379 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B55.2 {source="MONDO:equivalentTo", source="DOID:9155"}
xref: ICD9:085.5 {source="DOID:9155"}
xref: MEDGEN:233065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007897 {source="EFO:0007379", source="MONDO:equivalentTo", source="DOID:9155"}
xref: NCIT:C34769 {source="MONDO:equivalentTo"}
xref: SCTID:186810001 {source="DOID:9155"}
xref: SCTID:39625001 {source="DOID:9155"}
xref: SCTID:403135004 {source="DOID:9155"}
xref: UMLS:C1328252 {source="MEDGEN:233065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011989 {source="DOID:9155", source="EFO:0007379", source="ICD10CM:B55.2", source="MESH:D007897/inferred", source="NCIT:C34769/inferred"} ! leishmaniasis

[Term]
id: MONDO:0005860
name: obsolete MONDO:0005860
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019136

[Term]
id: MONDO:0005861
name: multidrug-resistant tuberculosis
def: "A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs." [https://orcid.org/0000-0002-6670-9157, PMID:25918181]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDR-TB" EXACT [NCIT:C128415]
synonym: "multidrug-resistant TB" EXACT [NCIT:C128415]
xref: DOID:401 {source="MONDO:equivalentTo", source="EFO:0007381"}
xref: EFO:0007381 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:60163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018088 {source="DOID:401", source="MONDO:equivalentTo", source="EFO:0007381"}
xref: NCIT:C128415 {source="MONDO:equivalentTo"}
xref: SCTID:423092005 {source="DOID:401", source="MONDO:equivalentTo"}
xref: UMLS:C0206526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60163"}
is_a: MONDO:0018076 {source="DOID:401", source="EFO:0007381", source="MESH:D018088", source="NCIT:C128415"} ! tuberculosis
is_a: MONDO:0041806 {source="https://orcid.org/0000-0001-5208-3432"} ! drug-resistant tuberculosis

[Term]
id: MONDO:0005862
name: obsolete multiple chemical sensitivity
def: "OBSOLETE. An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)" [MESH:D018777]
synonym: "20th century disease" RELATED [DOID:4661]
synonym: "chemical AIDS" RELATED [DOID:4661]
synonym: "environmental illness" RELATED [DOID:4661]
synonym: "idiopathic environmental illness" EXACT [DOID:4661, Wikipedia:Multiple_chemical_sensitivity]
synonym: "total allergy syndrome" EXACT [DOID:4661]
xref: DOID:4661 {source="MONDO:obsoleteEquivalent", source="EFO:0007382"}
xref: MESH:D018777 {source="DOID:4661", source="MONDO:obsoleteEquivalent", source="EFO:0007382"}
xref: SCTID:702772003 {source="DOID:4661", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0005864
name: muscle cancer
def: "A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of muscle structure" EXACT [MONDO:patterns/cancer]
synonym: "malignant muscle neoplasm" EXACT [NCIT:C4883]
synonym: "malignant muscle structure neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant muscle tumor" EXACT [NCIT:C4883]
synonym: "malignant muscle tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of muscle" EXACT [DOID:4045, NCIT:C4883]
synonym: "malignant neoplasm of muscle structure" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the muscle" EXACT [NCIT:C4883]
synonym: "malignant tumor of muscle" EXACT [DOID:4045, NCIT:C4883]
synonym: "malignant tumor of the muscle" EXACT [DOID:4045, NCIT:C4883]
synonym: "malignant tumour of muscle" EXACT OMO:0003005 []
synonym: "malignant tumour of the muscle" EXACT OMO:0003005 []
synonym: "muscle structure cancer" EXACT [MONDO:patterns/location]
synonym: "myosarcoma" EXACT [DOID:4045, NCIT:C4883]
xref: DOID:4045 {source="MONDO:equivalentTo", source="EFO:0007384"}
xref: EFO:0007384 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C49 {source="DOID:4045"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8895/3 {source="NCIT:C4883"}
xref: MEDGEN:151927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009217 {source="DOID:4045", source="EFO:0007384"}
xref: MESH:D019042 {source="DOID:4045"}
xref: NCIT:C4883 {source="DOID:4045", source="MONDO:equivalentTo"}
xref: SCTID:20667008 {source="DOID:4045"}
xref: SCTID:363495004 {source="DOID:4045", source="MONDO:equivalentTo"}
xref: SCTID:93913006 {source="DOID:4045"}
xref: UMLS:C0684743 {source="MONDO:equivalentTo", source="MEDGEN:151927", source="MONDO:MEDGEN"}
is_a: MONDO:0000637 {source="DOID:4045"} ! musculoskeletal system cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0005090 ! muscle structure

[Term]
id: MONDO:0005865
name: mushroom workers' lung
def: "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." [DOID:2708, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bunashimeji worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432]
synonym: "mushroom workers lung" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "pholiota worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432]
synonym: "pleurotus worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432]
synonym: "shiitaki worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432]
synonym: "shimeji worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432]
xref: DOID:2708 {source="MONDO:equivalentTo", source="EFO:0007385"}
xref: ICD10CM:J67.5 {source="DOID:2708"}
xref: ICD9:495.5 {source="DOID:2708", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005203 {source="DOID:2708", source="EFO:0007385"}
xref: SCTID:52333004 {source="DOID:2708", source="MONDO:equivalentTo"}
xref: UMLS:C0155889 {source="MEDGEN:102344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000771 {source="MONDO:indirect"} ! allergic respiratory disease
is_a: MONDO:0017853 {source="DOID:2708"} ! hypersensitivity pneumonitis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020028"} ! rare

[Term]
id: MONDO:0005866
name: Mycobacterium avium complex disease
def: "An infection that is caused by Mycobacterium avium." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disseminated infection with mycobacterium avium complex" RELATED [GARD:0009236]
synonym: "DMAC" RELATED ABBREVIATION [GARD:0009236]
synonym: "infection due to Mycobacterium intracellulare" EXACT [DOID:2755]
synonym: "MAC disease" EXACT [DOID:2755]
synonym: "Mycobacterium avium Complex" EXACT [DOID:2755]
synonym: "Mycobacterium avium complex caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium avium complex disease or disorder" EXACT []
synonym: "Mycobacterium avium complex infectious disease" EXACT []
synonym: "Mycobacterium avium infection" EXACT [DOID:2755, NCIT:C36197]
xref: DOID:2755 {source="MONDO:equivalentTo", source="EFO:0007386"}
xref: EFO:0007386 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:031.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015270 {source="MONDO:equivalentTo", source="DOID:2755", source="EFO:0007386"}
xref: NCIT:C36197 {source="MONDO:equivalentTo", source="DOID:2755"}
xref: SCTID:14009004 {source="DOID:2755"}
xref: SCTID:373436002 {source="MONDO:equivalentTo", source="DOID:2755"}
xref: UMLS:C0026916 {source="MEDGEN:6478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:2755"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:2755/inferred", source="EFO:0007386", source="MESH:D015270/inferred", source="MONDO:Redundant", source="NCIT:C36197/inferred"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:37162 ! Mycobacterium avium complex sp.
relationship: transmitted_by NCBITaxon:2 ! Bacteria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9236/disseminated-infection-with-mycobacterium-avium-complex" xsd:anyURI {source="GARD:0009236"}

[Term]
id: MONDO:0005867
name: Mycoplasma pneumoniae pneumonia
def: "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar." [MESH:D011019]
subset: otar {source="MONDO:OTAR"}
synonym: "cold agglutinin positive pneumonia" EXACT []
synonym: "Mycoplasma pneumonia" EXACT [DOID:13276]
synonym: "Mycoplasmal pneumonia" EXACT []
synonym: "pneumonia due to Eaton's agent" EXACT []
synonym: "pneumonia due to Mycoplasma pneumoniae" EXACT [ICD9CM:483.0]
synonym: "pneumonia due to Mycoplasma pneumoniae (disorder)" EXACT []
xref: DOID:13276 {source="MONDO:equivalentTo", source="MONDO:obsolete", source="EFO:0007387"}
xref: EFO:0007387 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J15.7 {source="DOID:13276"}
xref: ICD9:483.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13276"}
xref: MEDGEN:19363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011019 {source="MONDO:equivalentTo", source="DOID:13276", source="EFO:0007387"}
xref: NCIT:C122526 {source="MONDO:equivalentTo"}
xref: SCTID:46970008 {source="MONDO:equivalentTo"}
xref: UMLS:C0032302 {source="MEDGEN:19363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004652 {source="DOID:13276", source="MESH:D011019", source="NCIT:C122526"} ! bacterial pneumonia
is_a: MONDO:0005249 {source="EFO:0007387", source="MESH:D011019/inferred", source="NCIT:C122526/inferred"} ! pneumonia

[Term]
id: MONDO:0005868
name: myelophthisic anemia
def: "A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaemia LEUKOERYTHROBLASTIC" EXACT OMO:0003005 []
synonym: "anemia LEUKOERYTHROBLASTIC" EXACT [DOID:2354, MTH:NOCODE]
synonym: "anemia, leukoerythroblastic" EXACT [DOID:2354]
synonym: "leukoerythroblastic reaction" EXACT [NCIT:C36218]
synonym: "leukoerythroblastosis" EXACT [DOID:2354, NCIT:C36218]
synonym: "myelophthisis" RELATED [DOID:2354]
xref: DOID:2354 {source="MONDO:equivalentTo", source="EFO:0007388"}
xref: EFO:0007388 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D61.82 {source="DOID:2354", source="MONDO:equivalentTo"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000750 {source="DOID:2354", source="MONDO:equivalentTo", source="EFO:0007388"}
xref: NCIT:C36218 {source="DOID:2354", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:2694001 {source="DOID:2354", source="MONDO:equivalentTo"}
xref: UMLS:C0002890 {source="MEDGEN:1529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012197 {source="DOID:2354"} ! idiopathic aplastic anemia
relationship: disease_has_feature HP:0001903 ! Anemia

[Term]
id: MONDO:0005869
name: obsolete myiasis
is_obsolete: true
replaced_by: MONDO:0019147

[Term]
id: MONDO:0005870
name: necatoriasis
def: "A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2790 {source="MONDO:equivalentTo", source="EFO:0007390"}
xref: EFO:0007390 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B76.1 {source="MONDO:equivalentTo", source="DOID:2790"}
xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009332 {source="MONDO:equivalentTo", source="EFO:0007390", source="DOID:2790"}
xref: NCIT:C34838 {source="MONDO:equivalentTo", source="DOID:2790"}
xref: SCTID:36667009 {source="MONDO:equivalentTo", source="DOID:2790"}
xref: UMLS:C0027528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10277"}
is_a: MONDO:0004664 {source="DOID:2790", source="ICD10CM:B76.1/inferred", source="MESH:D009332/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:2790/inferred", source="EFO:0007390", source="MESH:D009332/inferred", source="MONDO:Redundant", source="NCIT:C34838"} ! parasitic infectious disease
relationship: disease_has_feature HP:0001824 ! Weight loss
relationship: disease_has_feature HP:0001903 ! Anemia

[Term]
id: MONDO:0005871
name: Nematoda infectious disease
alt_id: MONDO:0021556
def: "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans." [MESH:D007815]
subset: otar {source="MONDO:OTAR"}
synonym: "Disease due to Nematoda" RELATED [UMLS:C0027583]
synonym: "disease due to nematoda" EXACT []
synonym: "Infection, Nematode" RELATED [MESH:D009349]
synonym: "Infections, Nematode" RELATED [MESH:D009349]
synonym: "Nematoda caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Nematoda disease or disorder" EXACT []
synonym: "Nematode Infection" RELATED [MESH:D009349]
synonym: "Nematode infection" RELATED [UMLS:C0027583]
synonym: "nematode infection" RELATED []
synonym: "Nematode Infections" RELATED [MESH:D009349]
synonym: "Nematodiasis" RELATED [UMLS:C0027583]
synonym: "nematodiasis" RELATED []
xref: DOID:3106 {source="EFO:0007391", source="MONDO:obsolete"}
xref: EFO:0007391 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:45025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007815 {source="MONDO:relatedTo", source="EFO:0007391"}
xref: MESH:D009349 {source="UMLS:C0027583", source="MONDO:equivalentTo"}
xref: SCTID:84706005 {source="UMLS:C0027583", source="MONDO:equivalentTo"}
xref: UMLS:C0027583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45025"}
is_a: MONDO:0004664 {source="MESH:D009349"} ! helminthiasis
is_a: MONDO:0005135 {source="EFO:0007391"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6231 ! Nematoda

[Term]
id: MONDO:0005872
name: nervous system cancer
def: "A primary or metastatic malignant neoplasm involving the nervous system." [NCIT:C4788]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of nervous system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of nervous system" EXACT [DOID:3093, MONDO:patterns/cancer, NCIT:C4788]
synonym: "malignant neoplasm of the nervous system" EXACT [NCIT:C4788]
synonym: "malignant nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4788]
synonym: "malignant nervous system tumor" EXACT [NCIT:C4788]
synonym: "malignant nervous system tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of nervous system" EXACT [NCIT:C4788]
synonym: "malignant tumor of the nervous system" EXACT [NCIT:C4788]
synonym: "malignant tumour of nervous system" EXACT OMO:0003005 []
synonym: "malignant tumour of the nervous system" EXACT OMO:0003005 []
synonym: "neoplasm of nervous system" BROAD EXCLUDE [DOID:3093]
synonym: "nervous system cancer" EXACT [MONDO:patterns/location]
synonym: "nervous system neoplasm" BROAD [DOID:3093]
synonym: "nervous system neoplasms, malignant" EXACT [NCIT:C4788]
synonym: "neural neoplasm" BROAD [DOID:3093]
synonym: "neural tumor" BROAD [DOID:3093]
synonym: "neural tumour" BROAD OMO:0003005 []
synonym: "tumor of the nervous system" BROAD [DOID:3093, NCIT:C3268]
synonym: "tumour of the nervous system" BROAD OMO:0003005 []
xref: DOID:3093 {source="MONDO:equivalentTo", source="EFO:0007392"}
xref: EFO:0007392 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:192 {source="DOID:3093"}
xref: ICD9:192.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:192.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3093"}
xref: MEDGEN:99231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009380 {source="EFO:0007392", source="DOID:3093"}
xref: MESH:D009423 {source="MONDO:equivalentTo"}
xref: NCIT:C35562 {source="DOID:3093"}
xref: NCIT:C4788 {source="MONDO:equivalentTo"}
xref: SCTID:188306000 {source="DOID:3093"}
xref: SCTID:372063002 {source="MONDO:equivalentTo"}
xref: UMLS:C0497549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99231"}
is_a: MONDO:0004992 {source="DOID:3093", source="DOID:3093/inferred", source="EFO:0007392/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0005071 {source="DOID:3093", source="MESH:D009423", source="MONDO:Redundant", source="NCIT:C4788/inferred"} ! nervous system disorder
is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C4788"} ! nervous system neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0005873
name: neuroaspergillosis
def: "Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)" [MESH:D020953]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:13565 {source="MONDO:equivalentTo", source="EFO:0007393"}
xref: MEDGEN:199873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020953 {source="MONDO:equivalentTo", source="EFO:0007393", source="DOID:13565"}
xref: UMLS:C0752342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199873"}
is_a: MONDO:0005657 {source="DOID:13565", source="MESH:D020953"} ! aspergillosis

[Term]
id: MONDO:0005874
name: neuroschistosomiasis
def: "Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)" [MESH:D020818]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:13722 {source="MONDO:equivalentTo", source="EFO:0007394"}
xref: EFO:0007394 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:155718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020818 {source="DOID:13722", source="MONDO:equivalentTo", source="EFO:0007394"}
xref: UMLS:C0752191 {source="MEDGEN:155718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015254 {source="DOID:13722", source="MESH:D020818", source="MONDO:Redundant"} ! schistosomiasis
intersection_of: MONDO:0015254 ! schistosomiasis
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0005875
name: Newcastle disease
def: "A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Newcastle's disease" EXACT [DOID:2929]
synonym: "pseudo-fowlpest" EXACT [DOID:2929]
xref: DOID:2929 {source="MONDO:equivalentTo", source="EFO:0007395"}
xref: EFO:0007395 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:10339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009521 {source="DOID:2929", source="MONDO:equivalentTo", source="EFO:0007395"}
xref: NCIT:C34849 {source="DOID:2929", source="MONDO:equivalentTo"}
xref: SCTID:155162002 {source="DOID:2929"}
xref: SCTID:231859001 {source="DOID:2929"}
xref: SCTID:258300000 {source="DOID:2929"}
xref: SCTID:267734002 {source="DOID:2929"}
xref: SCTID:89366008 {source="DOID:2929"}
xref: UMLS:C0027983 {source="MEDGEN:10339", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:2929", source="EFO:0007395", source="MESH:D009521/inferred", source="NCIT:C34849"} ! viral infectious disease
relationship: disease_has_feature HP:0000509 ! Conjunctivitis
relationship: disease_has_feature HP:0003470 ! Paralysis
relationship: disease_has_infectious_agent NCBITaxon:2560319 ! avian paramyxovirus 1

[Term]
id: MONDO:0005876
name: Nidovirales infectious disease
def: "Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections." [MESH:D030341]
synonym: "Nidovirales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Nidovirales disease or disorder" EXACT []
xref: DOID:2949 {source="MONDO:obsolete", source="EFO:0007396"}
xref: MEDGEN:197455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D030341 {source="MONDO:equivalentTo", source="EFO:0007396"}
xref: UMLS:C0969753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:197455"}
is_a: MONDO:0005108 {source="EFO:0007396", source="MESH:D030341/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:76804 ! disease has primary infectious agent Nidovirales

[Term]
id: MONDO:0005877
name: obsolete nocardiosis
is_obsolete: true
replaced_by: MONDO:0017776

[Term]
id: MONDO:0005878
name: ocular onchocerciasis
def: "Onchocerciasis affecting the eye." [NCIT:C34862]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eyeball of camera-type eye onchocerciasis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "onchocerciasis of eyeball of camera-type eye" EXACT [MONDO:design_pattern]
xref: DOID:11680 {source="MONDO:obsolete", source="EFO:0007398"}
xref: EFO:0007398 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:45196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015827 {source="MONDO:equivalentTo", source="EFO:0007398"}
xref: NCIT:C34862 {source="MONDO:equivalentTo"}
xref: SCTID:240842000 {source="MONDO:equivalentTo"}
xref: UMLS:C0029002 {source="MONDO:equivalentTo", source="MEDGEN:45196", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="EFO:0007398", source="MESH:D015827/inferred", source="MONDO:Redundant", source="NCIT:C34862/inferred"} ! eye disorder
is_a: MONDO:0017137 {source="MESH:D015827", source="MONDO:Redundant", source="NCIT:C34862"} ! onchocerciasis
is_a: MONDO:0043885 {source="MESH:D015827/inferred", source="MONDO:Redundant", source="NCIT:C34862"} ! eye infectious disorder
intersection_of: MONDO:0017137 ! onchocerciasis
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0005879
name: ocular toxoplasmosis
def: "Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids." [https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13343 {source="MONDO:obsolete", source="EFO:0007399"}
xref: EFO:0007399 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:130.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014126 {source="MONDO:equivalentTo", source="EFO:0007399"}
xref: SCTID:416481006 {source="MONDO:equivalentTo"}
xref: UMLS:C0040561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21599"}
is_a: MONDO:0005328 {source="EFO:0007399", source="MESH:D014126/inferred"} ! eye disorder
intersection_of: MONDO:0005989 ! toxoplasmosis
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis" xsd:anyURI {source="GARD:0007238"}

[Term]
id: MONDO:0005880
name: oesophagostomiasis
def: "Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans." [MESH:D009814]
synonym: "infection by Oesophagostomum" EXACT [DOID:3983]
synonym: "Oesophagostomum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Oesophagostomum disease or disorder" EXACT []
synonym: "Oesophagostomum infectious disease" EXACT []
xref: DOID:3983 {source="EFO:0007400", source="MONDO:equivalentTo"}
xref: ICD9:127.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009814 {source="EFO:0007400", source="DOID:3983", source="MONDO:equivalentTo"}
xref: SCTID:22500005 {source="DOID:3983", source="MONDO:equivalentTo"}
xref: UMLS:C0028887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18151"}
is_a: MONDO:0004664 {source="DOID:3983", source="MESH:D009814/inferred"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:52564 ! Oesophagostomum

[Term]
id: MONDO:0005881
name: oligohydramnios
def: "A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm." [NCIT:P378]
comment: Consider obsoleting as represents a finding
subset: otar {source="MONDO:OTAR"}
synonym: "antepartum oligohydramnios" EXACT [DOID:12215]
synonym: "delivered oligohydramnios" EXACT [DOID:12215]
synonym: "oligohydramnios" EXACT [MONDO:ambiguous]
synonym: "oligohydramnios (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "oligohydramnios - delivered" EXACT [DOID:12215]
xref: DOID:12215 {source="EFO:0007401", source="MONDO:equivalentTo"}
xref: EFO:0007401 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001562 {source="MONDO:otherHierarchy"}
xref: ICD10CM:O41.0 {source="DOID:12215"}
xref: ICD10CM:O41.00 {source="DOID:12215"}
xref: ICD9:658.0 {source="DOID:12215"}
xref: ICD9:658.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:86974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016104 {source="EFO:0007401", source="DOID:12215", source="MONDO:equivalentTo"}
xref: NCIT:C92839 {source="DOID:12215", source="MONDO:otherHierarchy"}
xref: SCTID:156190009 {source="DOID:12215"}
xref: SCTID:157051001 {source="DOID:12215"}
xref: SCTID:199652007 {source="DOID:12215"}
xref: SCTID:199656005 {source="DOID:12215"}
xref: SCTID:59566000 {source="DOID:12215", source="MONDO:equivalentTo"}
xref: UMLS:C0079924 {source="MEDGEN:86974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005917 {source="DOID:12215", source="EFO:0007401"} ! placenta disorder
is_a: MONDO:0024575 {source="MESH:D016104"} ! pregnancy disorder
property_value: IAO:0000589 "oligohydramnios (disease)" xsd:string

[Term]
id: MONDO:0005882
name: obsolete onchocerciasis
is_obsolete: true
replaced_by: MONDO:0017137

[Term]
id: MONDO:0005883
name: ophthalmic herpes zoster
def: "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." [MESH:D006563]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "herpes zoster ophthalmicus" EXACT []
synonym: "Herpes zoster ophthalmicus (HZO)" RELATED [GARD:0009721]
synonym: "HZO" RELATED ABBREVIATION [GARD:0009721]
xref: DOID:8535 {source="EFO:0007403", source="MONDO:obsolete"}
xref: EFO:0007403 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:053.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006563 {source="EFO:0007403", source="MONDO:equivalentTo"}
xref: SCTID:87513003 {source="MONDO:equivalentTo"}
xref: UMLS:C0019364 {source="MEDGEN:9236", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005609 {source="EFO:0007403", source="MESH:D006563"} ! herpes zoster
is_a: MONDO:0020010 {source="MONDO:Redundant"} ! infectious disorder of the nervous system
relationship: disease_has_location UBERON:0000348 ! ophthalmic nerve

[Term]
id: MONDO:0005884
name: opisthorchiasis
def: "Infection with flukes of the genus Opisthorchis." [MESH:D009889]
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Opisthorchis" EXACT [DOID:13768]
synonym: "infection due to cat liver fluke" RELATED [GARD:0009746]
synonym: "infection due to Opisthorchis (felineus)(viverrini)" RELATED [GARD:0009746]
xref: DOID:13768 {source="EFO:0007404", source="MONDO:equivalentTo"}
xref: EFO:0007404 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B66.0 {source="DOID:13768", source="MONDO:equivalentTo"}
xref: ICD9:121.0 {source="DOID:13768", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009889 {source="DOID:13768", source="EFO:0007404", source="MONDO:equivalentTo"}
xref: SCTID:1059007 {source="DOID:13768", source="MONDO:equivalentTo"}
xref: SCTID:187124006 {source="DOID:13768"}
xref: UMLS:C0029106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10453"}
is_a: MONDO:0004664 {source="DOID:13768", source="ICD10CM:B66.0/inferred", source="MESH:D009889/inferred"} ! helminthiasis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9746/opisthorchiasis" xsd:anyURI {source="GARD:0009746"}

[Term]
id: MONDO:0005885
name: optic neuritis
def: "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." [https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis]
subset: otar {source="MONDO:OTAR"}
xref: DOID:1210 {source="EFO:0007405", source="MONDO:equivalentTo"}
xref: EFO:0007405 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H46 {source="DOID:1210", source="MONDO:equivalentTo"}
xref: ICD10CM:H46.9 {source="DOID:1210"}
xref: ICD9:377.3 {source="DOID:1210"}
xref: ICD9:377.30 {source="DOID:1210", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:377.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009902 {source="DOID:1210", source="EFO:0007405", source="MONDO:equivalentTo"}
xref: NCIT:C84950 {source="DOID:1210", source="MONDO:equivalentTo"}
xref: SCTID:155189007 {source="DOID:1210"}
xref: SCTID:194051001 {source="DOID:1210"}
xref: SCTID:194052008 {source="DOID:1210"}
xref: SCTID:194054009 {source="DOID:1210"}
xref: SCTID:267743006 {source="DOID:1210"}
xref: SCTID:66760008 {source="DOID:1210", source="MONDO:equivalentTo"}
xref: UMLS:C0029134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18181"}
is_a: MONDO:0002135 {source="DOID:1210", source="MESH:D009902", source="MONDO:Redundant", source="NCIT:C84950/inferred"} ! optic nerve disorder
is_a: MONDO:0005328 {source="EFO:0007405", source="MESH:D009902/inferred"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000941 ! cranial nerve II
relationship: disease_has_feature HP:0000572 ! Visual loss
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis" xsd:anyURI {source="GARD:0007320"}

[Term]
id: MONDO:0005886
name: oral candidiasis
def: "Infection of the mucosal lining of the mouth with the fungus Candida albicans." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "candidiasis of mouth" EXACT [DOID:14262, ICD9CM:112.0]
synonym: "mouth candidiasis" EXACT [MONDO:patterns/location]
synonym: "oral moniliasis" EXACT [DOID:14262]
synonym: "thrush" BROAD [DOID:14262, NCIT:C28137]
synonym: "thrush, oral" EXACT [DOID:14262]
xref: DOID:14262 {source="MONDO:equivalentTo", source="EFO:0007406"}
xref: EFO:0007406 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B37.0 {source="DOID:14262"}
xref: ICD10CM:B37.9 {source="DOID:14262"}
xref: ICD9:112.0 {source="MONDO:equivalentTo", source="DOID:14262", source="MONDO:i2s"}
xref: MEDGEN:14300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002180 {source="MONDO:equivalentTo", source="DOID:14262", source="EFO:0007406"}
xref: NCIT:C28137 {source="MONDO:equivalentTo", source="DOID:14262"}
xref: SCTID:187005005 {source="DOID:14262"}
xref: SCTID:187006006 {source="DOID:14262"}
xref: SCTID:367093001 {source="DOID:14262"}
xref: SCTID:78048006 {source="DOID:14262"}
xref: SCTID:79740000 {source="MONDO:equivalentTo", source="DOID:14262"}
xref: UMLS:C0006849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14300"}
is_a: MONDO:0002026 {source="DOID:14262", source="MESH:D002180", source="MONDO:Redundant", source="NCIT:C28137"} ! candidiasis
is_a: MONDO:0006858 {source="DOID:14262", source="MESH:D002180", source="MONDO:Redundant"} ! mouth disorder
intersection_of: MONDO:0002026 ! candidiasis
intersection_of: disease_has_location UBERON:0000165 ! mouth

[Term]
id: MONDO:0005887
name: oral tuberculosis
def: "Tuberculosis of the mouth, tongue, and salivary glands." [MESH:D014393]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:402 {source="EFO:0007407", source="MONDO:equivalentTo"}
xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:528.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:52888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014393 {source="DOID:402", source="EFO:0007407", source="MONDO:equivalentTo"}
xref: SCTID:235067001 {source="DOID:402", source="MONDO:equivalentTo"}
xref: UMLS:C0041323 {source="MEDGEN:52888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005768 {source="DOID:402", source="EFO:0007407"} ! gastrointestinal tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_inflammation_site UBERON:0000165 ! mouth

[Term]
id: MONDO:0005888
name: ornithosis
def: "Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans." [NCIT:P378]
subset: ordo_disorder {source="Orphanet:660053"}
subset: orphanet_rare {source="Orphanet:660053"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "psittacosis" EXACT [DOID:11262]
xref: DOID:11262 {source="MONDO:equivalentTo", source="EFO:0007410"}
xref: EFO:0007410 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A70 {source="DOID:11262"}
xref: ICD9:073 {source="DOID:11262"}
xref: ICD9:073.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11262"}
xref: MEDGEN:18198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009956 {source="MONDO:equivalentTo", source="DOID:11262", source="EFO:0007410"}
xref: NCIT:C34873 {source="MONDO:equivalentTo", source="DOID:11262"}
xref: Orphanet:660053 {source="MONDO:equivalentTo"}
xref: SCTID:154367007 {source="DOID:11262"}
xref: SCTID:154369005 {source="DOID:11262"}
xref: SCTID:186653003 {source="DOID:11262"}
xref: SCTID:186657002 {source="DOID:11262"}
xref: SCTID:266200005 {source="DOID:11262"}
xref: SCTID:75116005 {source="MONDO:equivalentTo", source="DOID:11262"}
xref: UMLS:C0029291 {source="MEDGEN:18198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:11262"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11262/inferred", source="EFO:0007410", source="MESH:D009956/inferred", source="MONDO:Redundant", source="NCIT:C34873/inferred"} ! bacterial infectious disease
relationship: disease_has_feature HP:0002090 ! Pneumonia

[Term]
id: MONDO:0005889
name: obsolete orthomyxoviridae infectious disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3204" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005812

[Term]
id: MONDO:0005890
name: osteitis fibrosa
def: "A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperparathyroid bone disease" EXACT [DOID:3341]
synonym: "osteitis fibrosa cystica" EXACT [NCIT:C34875]
synonym: "osteitis fibrosa cystica generalisata" EXACT [DOID:3341]
synonym: "Von Recklinghausen disease of Bone" EXACT [NCIT:C34875]
synonym: "Von Recklinghausen's bone disease" EXACT [DOID:3341]
synonym: "Von Recklinghausen's disease of Bone" EXACT [NCIT:C34875]
xref: DOID:3341 {source="EFO:0007413", source="MONDO:equivalentTo"}
xref: EFO:0007413 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:14529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010002 {source="DOID:3341", source="EFO:0007413", source="MONDO:equivalentTo"}
xref: NCIT:C34875 {source="DOID:3341", source="MONDO:equivalentTo"}
xref: SCTID:190451000 {source="DOID:3341"}
xref: SCTID:190453002 {source="DOID:3341"}
xref: SCTID:84727000 {source="DOID:3341", source="MONDO:equivalentTo"}
xref: UMLS:C0029405 {source="MEDGEN:14529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000837 {source="DOID:3341"} ! bone resorption disease
relationship: disease_has_feature HP:0000752 ! Hyperactivity
relationship: disease_has_feature HP:0000843 ! Hyperparathyroidism

[Term]
id: MONDO:0005891
name: ostertagiasis
def: "A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia." [MESH:D010029]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3985 {source="EFO:0007414", source="MONDO:equivalentTo"}
xref: EFO:0007414 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:18224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010029 {source="EFO:0007414", source="MONDO:equivalentTo", source="DOID:3985"}
xref: UMLS:C0029471 {source="MONDO:equivalentTo", source="MEDGEN:18224", source="MONDO:MEDGEN"}
is_a: MONDO:0005994 {source="DOID:3985", source="MESH:D010029"} ! trichostrongyloidiasis

[Term]
id: MONDO:0005892
name: otitis media with effusion
def: "Otitis media associated with accumulation of fluid in the middle ear." [NCIT:C34886]
subset: otar {source="MONDO:OTAR"}
synonym: "OME" EXACT ABBREVIATION [NCIT:C34886]
synonym: "secretory otitis Media" EXACT [NCIT:C34886]
synonym: "serous otitis Media" EXACT [NCIT:C34886]
xref: DOID:11179 {source="EFO:0007415", source="MONDO:obsolete"}
xref: EFO:0007415 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:381.20 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:381.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:629314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010034 {source="EFO:0007415", source="MONDO:equivalentTo"}
xref: NCIT:C34886 {source="MONDO:equivalentTo"}
xref: SCTID:78868004 {source="MONDO:equivalentTo"}
xref: UMLS:C0456498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:629314"}
is_a: MONDO:0005441 {source="EFO:0007415", source="MESH:D010034", source="MONDO:Redundant", source="NCIT:C34886"} ! otitis media
is_a: MONDO:0021206 ! chronic non-suppurative otitis media

[Term]
id: MONDO:0005893
name: pancreatic endocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." [NCIT:C3770]
subset: gard_rare {source="GARD:22056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:506098"}
subset: orphanet_rare {source="Orphanet:506098"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of endocrine pancreas" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, islet cell, malignant" EXACT [NCIT:C3770]
synonym: "endocrine pancreas carcinoma" EXACT [MONDO:patterns/location]
synonym: "high grade pancreatic neuroendocrine carcinoma" EXACT [NCIT:C3770]
synonym: "high-grade pancreatic neuroendocrine carcinoma" EXACT [NCIT:C3770]
synonym: "islet cell cancer" EXACT [NCIT:C3770]
synonym: "islet cell carcinoma" EXACT [NCIT:C3770]
synonym: "islet cell carcinoma (morphologic abnormality)" EXACT [DOID:1798]
synonym: "malignant islet cell tumor" EXACT [NCIT:C3770]
synonym: "malignant islet cell tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of islets of Langerhans" EXACT [DOID:1798]
synonym: "malignant pancreatic endocrine tumor" EXACT [NCIT:C3770]
synonym: "malignant pancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine carcinoma of pancreas" RELATED [Orphanet:506098]
synonym: "pancreatic endocrine cancer" EXACT [NCIT:C3770]
synonym: "pancreatic endocrine carcinoma" EXACT [NCIT:C3770]
synonym: "pancreatic NEC" EXACT [NCIT:C3770, Orphanet:506098]
synonym: "pancreatic NEC G3" EXACT [NCIT:C3770]
synonym: "Pancreatic Neuroendocrine cancer" EXACT [NCIT:C3770]
synonym: "pancreatic neuroendocrine carcinoma" EXACT [DOID:1798, NCIT:C3770, Orphanet:506098]
synonym: "poorly differentiated pancreatic endocrine carcinoma" EXACT [NCIT:C3770]
synonym: "poorly-differentiated NEN of pancreas" EXACT [Orphanet:506098]
synonym: "poorly-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506098]
synonym: "poorly-differentiated pancreatic NEN" EXACT [Orphanet:506098]
synonym: "poorly-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506098]
xref: DOID:1798 {source="EFO:0007416", source="MONDO:equivalentTo"}
xref: EFO:0007416 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22056 {source="MONDO:GARD"}
xref: ICD10CM:C25.4 {source="MONDO:equivalentTo", source="DOID:1798"}
xref: ICD9:157.4 {source="DOID:1798"}
xref: ICDO:8150/3 {source="NCIT:C3770"}
xref: MEDGEN:233070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018273 {source="EFO:0007416", source="MONDO:equivalentTo", source="DOID:1798"}
xref: NCIT:C3770 {source="MONDO:equivalentTo", source="DOID:1798"}
xref: Orphanet:506098 {source="MONDO:equivalentTo"}
xref: SCTID:187794005 {source="DOID:1798"}
xref: SCTID:254612002 {source="MONDO:equivalentTo", source="DOID:1798"}
xref: SCTID:60346004 {source="DOID:1798"}
xref: SCTID:93843007 {source="DOID:1798"}
xref: UMLS:C1328479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233070"}
is_a: MONDO:0005815 {source="DOID:1798", source="MONDO:Redundant", source="NCIT:C3770", source="Orphanet:506098"} ! pancreatic neuroendocrine neoplasm
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3770/inferred"} ! digestive system carcinoma
is_a: MONDO:0009831 {source="DOID:1798/inferred", source="MONDO:Redundant", source="NCIT:C3770"} ! malignant pancreatic neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000016 ! endocrine pancreas

[Term]
id: MONDO:0005894
name: paracoccidioidomycosis
def: "A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones." [NCIT:P378]
subset: gard_rare {source="GARD:7323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1553"}
subset: ordo_disorder {source="Orphanet:73260"}
subset: orphanet_rare {source="Orphanet:73260"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lobo disease" RELATED [GARD:0007323]
synonym: "Lutz-Splendore-Almeida disease" RELATED [GARD:0007323]
synonym: "mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT [DOID:12662]
synonym: "Paracoccidioidal granuloma" RELATED [GARD:0007323]
synonym: "paracoccidioidal mycosis" EXACT [DOID:12662]
synonym: "PCM" RELATED ABBREVIATION [GARD:0007323]
synonym: "South American blastomycosis" RELATED [GARD:0007323]
xref: DOID:12662 {source="MONDO:equivalentTo", source="EFO:0007417"}
xref: EFO:0007417 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7323 {source="MONDO:GARD"}
xref: ICD10CM:B41 {source="MONDO:equivalentTo", source="DOID:12662"}
xref: ICD10CM:B41.0 {source="Orphanet:73260/btnt", source="Orphanet:73260"}
xref: ICD10CM:B41.7 {source="Orphanet:73260/btnt", source="Orphanet:73260"}
xref: ICD10CM:B41.8 {source="Orphanet:73260/btnt", source="Orphanet:73260"}
xref: ICD10CM:B41.9 {source="Orphanet:73260/btnt", source="DOID:12662", source="Orphanet:73260"}
xref: ICD9:116.1 {source="DOID:12662"}
xref: MedDRA:10061906 {source="Orphanet:73260/e", source="Orphanet:73260"}
xref: MEDGEN:14601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010229 {source="Orphanet:73260/e", source="MONDO:equivalentTo", source="EFO:0007417", source="DOID:12662", source="Orphanet:73260"}
xref: NCIT:C34891 {source="MONDO:equivalentTo", source="DOID:12662"}
xref: NORD:1553 {source="MONDO:NORD"}
xref: Orphanet:73260 {source="MONDO:equivalentTo"}
xref: SCTID:187074005 {source="DOID:12662"}
xref: SCTID:187486002 {source="DOID:12662"}
xref: SCTID:36866003 {source="MONDO:equivalentTo", source="DOID:12662"}
xref: SCTID:59925007 {source="DOID:12662"}
xref: UMLS:C0030409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14601"}
is_a: MONDO:0000308 {source="DOID:12662"} ! primary systemic mycosis
is_a: MONDO:0002041 {source="DOID:12662/inferred", source="ICD10CM:B41", source="MESH:D010229", source="MONDO:Redundant", source="NCIT:C34891", source="Orphanet:73260"} ! fungal infectious disease
relationship: disease_has_infectious_agent NCBITaxon:121759 ! Paracoccidioides brasiliensis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis" xsd:anyURI {source="GARD:0007323"}

[Term]
id: MONDO:0005895
name: paragonimiasis
def: "A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia." [NCIT:P378]
subset: gard_rare {source="GARD:9815", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658913"}
subset: orphanet_rare {source="Orphanet:658913"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection by Paragonimus" EXACT [DOID:10699]
synonym: "lung fluke disease" EXACT [DOID:10699]
synonym: "lung fluke infection" EXACT [DOID:10699]
synonym: "Paragonimus westermani caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Paragonimus westermani disease or disorder" EXACT []
synonym: "Paragonimus westermani infection" RELATED [GARD:0009815]
synonym: "Paragonimus westermani infectious disease" EXACT []
synonym: "pulmonary paragonimiasis" EXACT [DOID:10699]
xref: DOID:10699 {source="EFO:0007418", source="MONDO:equivalentTo"}
xref: EFO:0007418 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9815 {source="MONDO:GARD"}
xref: ICD10CM:B66.4 {source="DOID:10699", source="MONDO:equivalentTo"}
xref: ICD9:121.2 {source="DOID:10699", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010237 {source="DOID:10699", source="EFO:0007418", source="MONDO:equivalentTo"}
xref: NCIT:C84995 {source="DOID:10699", source="MONDO:equivalentTo"}
xref: Orphanet:658913 {source="MONDO:equivalentTo"}
xref: SCTID:240807004 {source="DOID:10699"}
xref: SCTID:240808009 {source="DOID:10699"}
xref: SCTID:30369007 {source="DOID:10699", source="MONDO:equivalentTo"}
xref: UMLS:C0030424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14603"}
is_a: MONDO:0004664 {source="DOID:10699", source="ICD10CM:B66.4/inferred", source="MESH:D010237/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:10699/inferred", source="EFO:0007418", source="MESH:D010237/inferred", source="MONDO:Redundant", source="NCIT:C84995"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:34504 ! Paragonimus westermani
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis" xsd:anyURI {source="GARD:0009815"}

[Term]
id: MONDO:0005896
name: Paramyxoviridae infectious disease
def: "Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections." [MESH:D018184]
subset: otar {source="MONDO:OTAR"}
synonym: "Paramyxoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Paramyxoviridae disease or disorder" EXACT []
xref: DOID:3056 {source="EFO:0007419", source="MONDO:obsolete"}
xref: EFO:0007419 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D018184 {source="MONDO:equivalentTo", source="EFO:0007419"}
is_a: MONDO:0005108 {source="EFO:0007419", source="MESH:D018184/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11158 ! disease has primary infectious agent Paramyxoviridae

[Term]
id: MONDO:0005897
name: obsolete paratyphoid fever
is_obsolete: true
replaced_by: MONDO:0018626

[Term]
id: MONDO:0005898
name: paronychia
def: "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fungal nail infection" EXACT [DOID:13117]
synonym: "infected nailfold" EXACT [DOID:13117]
synonym: "onychia and paronychia of finger" EXACT [DOID:13117]
synonym: "onychia and paronychia of toe" EXACT [DOID:13117]
synonym: "paronychia" EXACT [MONDO:ambiguous]
synonym: "paronychia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "paronychia inflammation" RELATED [DOID:13117]
xref: DOID:13117 {source="MONDO:equivalentTo", source="EFO:0007421"}
xref: EFO:0007421 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001818 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L03.0 {source="DOID:13117"}
xref: ICD9:681.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010304 {source="DOID:13117", source="MONDO:equivalentTo", source="EFO:0007421"}
xref: NCIT:C79702 {source="DOID:13117", source="MONDO:equivalentTo"}
xref: SCTID:156305000 {source="DOID:13117"}
xref: SCTID:200643006 {source="DOID:13117"}
xref: SCTID:267830000 {source="DOID:13117"}
xref: SCTID:71906005 {source="DOID:13117", source="MONDO:equivalentTo"}
xref: UMLS:C0030578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45334"}
is_a: MONDO:0002884 {source="DOID:13117", source="MESH:D010304"} ! nail disorder
is_a: MONDO:0005093 {source="EFO:0007421", source="MESH:D010304/inferred"} ! skin disorder
property_value: IAO:0000589 "paronychia (disease)" xsd:string

[Term]
id: MONDO:0005899
name: parotid disorder
def: "A disease involving the parotid gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of parotid gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of parotid gland" EXACT []
synonym: "disorder of parotid gland" EXACT [MONDO:patterns/location_top]
synonym: "parotid gland disease" EXACT [MONDO:patterns/location]
synonym: "parotid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:10302 {source="MONDO:equivalentTo"}
xref: EFO:0007422 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:10593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010305 {source="DOID:10302", source="MONDO:equivalentTo"}
xref: MESH:NoID {source="EFO:0007422"}
xref: UMLS:C0030579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10593"}
is_a: MONDO:0001142 {source="DOID:10302", source="EFO:0007422", source="MESH:D010305", source="MONDO:Entailed", source="MONDO:Redundant"} ! salivary gland disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0005900
name: parotitis
def: "Inflammation of the parotid glands." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of parotid gland" EXACT []
synonym: "parotid gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10301 {source="EFO:0007423", source="MONDO:equivalentTo"}
xref: EFO:0007423 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K11.2 {source="DOID:10301"}
xref: MEDGEN:45335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010309 {source="EFO:0007423", source="DOID:10301", source="MONDO:equivalentTo"}
xref: NCIT:C114281 {source="DOID:10301", source="MONDO:equivalentTo"}
xref: SCTID:14756005 {source="DOID:10301", source="MONDO:equivalentTo"}
xref: SCTID:196481002 {source="DOID:10301"}
xref: SCTID:196484005 {source="DOID:10301"}
xref: UMLS:C0030583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45335"}
is_a: MONDO:0005899 {source="DOID:10301", source="EFO:0007423", source="MESH:D010309", source="MONDO:Entailed", source="MONDO:Redundant"} ! parotid disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0005901
name: pasteurellosis
def: "Infections with bacteria of the genus pasteurella." [MESH:D010326]
subset: otar {source="MONDO:OTAR"}
synonym: "Pasteurella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pasteurella disease or disorder" EXACT []
synonym: "Pasteurella infection" EXACT [DOID:11055]
synonym: "Pasteurella infectious disease" EXACT [DOID:11055]
xref: DOID:11055 {source="EFO:0007424", source="MONDO:equivalentTo"}
xref: EFO:0007424 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A28.0 {source="MONDO:equivalentTo", source="DOID:11055"}
xref: ICD9:027.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11055"}
xref: MEDGEN:10598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010326 {source="EFO:0007424", source="MONDO:equivalentTo", source="DOID:11055"}
xref: SCTID:186328008 {source="DOID:11055"}
xref: SCTID:266086006 {source="DOID:11055"}
xref: SCTID:276199008 {source="DOID:11055"}
xref: SCTID:83172007 {source="MONDO:equivalentTo", source="DOID:11055"}
xref: UMLS:C0030636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10598"}
is_a: MONDO:0005113 {source="DOID:11055/inferred", source="EFO:0007424", source="MESH:D010326/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:745 ! Pasteurella
relationship: excluded_subClassOf MONDO:0000314 {source="DOID:11055", source="https://orcid.org/0000-0001-5208-3432"} ! primary bacterial infectious disease

[Term]
id: MONDO:0005902
name: obsolete peanut allergic reaction
def: "OBSOLETE. Allergic reaction to peanuts that is triggered by the immune system." [MESH:D021183]
comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: -none
synonym: "allergy to peanuts" EXACT [DOID:4378]
synonym: "nut allergic reaction of pigmented ciliary epithelial cell" EXACT [MONDO:design_pattern]
synonym: "peanut allergic reaction" EXACT [DOID:4378]
synonym: "peanut allergy" RELATED [DOID:4378]
synonym: "pigmented ciliary epithelial cell nut allergic reaction" EXACT [MONDO:patterns/location]
xref: DOID:4378 {source="EFO:0007425", source="MONDO:obsoleteEquivalent"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D021183 {source="DOID:4378", source="EFO:0007425", source="MONDO:obsoleteEquivalent"}
xref: SCTID:213021008 {source="DOID:4378"}
xref: SCTID:91935009 {source="DOID:4378", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5914" xsd:anyURI
is_obsolete: true
consider: MONDO:0700226

[Term]
id: MONDO:0005903
name: pericardial tuberculosis
def: "Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart." [MESH:D010495]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tuberculous pericarditis" EXACT [DOID:4962]
xref: DOID:4962 {source="EFO:0007426", source="MONDO:equivalentTo"}
xref: EFO:0007426 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A18.84 {source="DOID:4962"}
xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010495 {source="DOID:4962", source="EFO:0007426", source="MONDO:equivalentTo"}
xref: SCTID:67256000 {source="DOID:4962", source="MONDO:equivalentTo"}
xref: UMLS:C0031049 {source="MEDGEN:18379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="DOID:4962"} ! extrapulmonary tuberculosis
is_a: MONDO:0000474 {source="DOID:4962"} ! pericardium disorder
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_inflammation_site UBERON:0002407 ! pericardium
relationship: disease_has_feature HP:0001698 ! Pericardial effusion
relationship: disease_has_feature HP:0005132 ! Pericardial constriction

[Term]
id: MONDO:0005904
name: pericarditis
def: "An inflammatory process affecting the pericardium." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of pericardium" EXACT []
synonym: "pericarditis" EXACT [MONDO:ambiguous]
synonym: "pericarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pericardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:1787 {source="EFO:0007427", source="MONDO:equivalentTo"}
xref: EFO:0007427 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001701 {source="MONDO:otherHierarchy"}
xref: MEDGEN:18377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010493 {source="EFO:0007427", source="MONDO:equivalentTo", source="DOID:1787"}
xref: NCIT:C34915 {source="MONDO:equivalentTo", source="DOID:1787"}
xref: Orphanet:58208 {source="MONDO:equivalentObsolete"}
xref: SCTID:3238004 {source="MONDO:equivalentTo", source="DOID:1787"}
xref: UMLS:C0031046 {source="MEDGEN:18377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000474 {source="DOID:1787", source="MONDO:Redundant"} ! pericardium disorder
is_a: MONDO:0005267 {source="EFO:0007427", source="MESH:D010493", source="NCIT:C34915"} ! heart disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002407 ! pericardium
property_value: IAO:0000589 "pericarditis (disease)" xsd:string

[Term]
id: MONDO:0005905
name: periodic limb movement disorder
def: "Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)" [MESH:D020189]
subset: otar {source="MONDO:OTAR"}
synonym: "nocturnal myoclonus" EXACT [DOID:9207]
xref: DOID:9207 {source="MONDO:equivalentTo", source="EFO:0007428"}
xref: EFO:0007428 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G47.61 {source="DOID:9207", source="MONDO:equivalentTo"}
xref: ICD9:327.51 {source="DOID:9207", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:199731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020189 {source="DOID:9207", source="EFO:0007428"}
xref: SCTID:418763003 {source="DOID:9207", source="MONDO:equivalentTo"}
xref: UMLS:C0751774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199731"}
is_a: MONDO:0003406 {source="DOID:9207", source="ICD10CM:G47.61", source="MONDO:Redundant"} ! sleep-wake disorder
intersection_of: MONDO:0003406 ! sleep-wake disorder
intersection_of: disease_has_feature HP:0045084 ! Limb myoclonus
relationship: disease_has_feature HP:0012323 ! Sleep myoclonus
relationship: excluded_subClassOf MONDO:0005084 {source="EFO:0007428", source="https://orcid.org/0000-0001-5208-3432"} ! mental disorder

[Term]
id: MONDO:0005906
name: peritonsillar abscess
def: "An abscess that develops in the space surrounding one or both palatine tonsils." [NCIT:C128322]
subset: otar {source="MONDO:OTAR"}
synonym: "quinsy" EXACT [NCIT:C128322]
xref: DOID:12765 {source="EFO:0007429", source="MONDO:obsolete"}
xref: EFO:0007429 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J36 {source="MONDO:equivalentTo"}
xref: ICD9:475 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:45819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000039 {source="EFO:0007429", source="MONDO:equivalentTo"}
xref: NCIT:C128322 {source="MONDO:equivalentTo"}
xref: SCTID:15033003 {source="MONDO:equivalentTo"}
xref: UMLS:C0031157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45819"}
is_a: MONDO:0005113 {source="EFO:0007429", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0005227 {source="MESH:D000039", source="MONDO:Redundant", source="NCIT:C128322"} ! abscess
intersection_of: MONDO:0005227 ! abscess
intersection_of: disease_has_location UBERON:0002373 ! palatine tonsil

[Term]
id: MONDO:0005907
name: persian gulf syndrome
def: "Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)" [MESH:D018923]
subset: otar {source="MONDO:OTAR"}
synonym: "Gulf war syndrome" EXACT [DOID:4491]
xref: DOID:4491 {source="MONDO:equivalentTo", source="EFO:0007430"}
xref: EFO:0007430 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:300.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:84396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018923 {source="MONDO:equivalentTo", source="DOID:4491", source="EFO:0007430"}
xref: SCTID:95877004 {source="MONDO:equivalentTo", source="DOID:4491"}
xref: UMLS:C0282550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:84396"}
is_a: MONDO:0002254 {source="DOID:4491"} ! syndromic disease

[Term]
id: MONDO:0005908
name: peste des petits ruminants infectious disease
def: "A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia." [MESH:D029021]
synonym: "Peste des petits ruminants" RELATED [MESH:D029021]
synonym: "Pseudorinderpest" RELATED [MESH:D029021]
synonym: "Small ruminant morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Small ruminant morbillivirus disease or disorder" EXACT []
synonym: "Small ruminant morbillivirus infectious disease" EXACT []
xref: DOID:3532 {source="MONDO:obsolete", source="EFO:0007431"}
xref: MESH:D029021 {source="MONDO:equivalentTo", source="EFO:0007431"}
is_a: MONDO:0005583 {source="MESH:D029021"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0024985 ! sheep disease
is_a: MONDO:0024990 ! swine disease
is_a: MONDO:0025003 ! goat disease
is_a: MONDO:0700053 {source="EFO:0007431", source="MESH:D029021/inferred"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0100332 NCBITaxon:31604 ! disease has primary infectious agent
property_value: RO:0002175 NCBITaxon:9823 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9913 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9925 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9940 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0005909
name: pestivirus infectious disease
def: "Infections with viruses of the genus pestivirus, family flaviviridae." [MESH:D018182]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, Pestivirus" RELATED [MESH:D018182]
synonym: "infections, Pestivirus" RELATED [MESH:D018182]
synonym: "Pestivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pestivirus disease or disorder" EXACT []
synonym: "Pestivirus infection" RELATED [MESH:D018182]
synonym: "Pestivirus infectious disease" EXACT []
xref: DOID:4274 {source="MONDO:obsolete", source="EFO:0007432"}
xref: EFO:0007432 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:60191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018182 {source="MONDO:equivalentTo", source="EFO:0007432"}
xref: UMLS:C0206611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60191"}
is_a: MONDO:0005108 {source="EFO:0007432", source="MESH:D018182/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11095 ! disease has primary infectious agent Pestivirus

[Term]
id: MONDO:0005910
name: phagocyte bactericidal dysfunction
def: "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas." [MESH:D010585]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "phagocytic dysfunction" EXACT [DOID:3262]
xref: DOID:3262 {source="EFO:0007433", source="MONDO:equivalentTo"}
xref: EFO:0007433 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:14713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010585 {source="EFO:0007433", source="MONDO:equivalentTo", source="DOID:3262"}
xref: UMLS:C0031306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14713"}
is_a: MONDO:0003778 {source="DOID:3262", source="MESH:D010585"} ! inborn error of immunity
is_a: MONDO:0004805 {source="MESH:D010585"} ! leukocyte disorder
relationship: disease_disrupts GO:0006909 ! phagocytosis
relationship: disease_has_basis_in_dysfunction_of CL:0000234 ! phagocyte

[Term]
id: MONDO:0005911
name: pharyngoconjunctival fever
def: "A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus." [NCIT:C34924]
synonym: "Adenoviral pharyngoconjunctivitis" EXACT [DOID:13801]
synonym: "pharyngo-conjunctival fever" EXACT [DOID:13801]
synonym: "pharyngoconjunctival fever" EXACT [DOID:13801, ICD9CM:077.2, NCIT:C34924]
xref: DOID:13801 {source="EFO:0007434", source="MONDO:equivalentTo"}
xref: ICD9:077.2 {source="DOID:13801", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000258 {source="EFO:0007434", source="DOID:13801", source="MONDO:equivalentTo"}
xref: NCIT:C34924 {source="DOID:13801", source="MONDO:equivalentTo"}
xref: SCTID:70385007 {source="DOID:13801", source="MONDO:equivalentTo"}
xref: UMLS:C0031351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14722"}
is_a: MONDO:0005108 {source="DOID:13801", source="EFO:0007434", source="MESH:D000258/inferred", source="NCIT:C34924"} ! viral infectious disease
relationship: disease_has_feature HP:0001945 ! Fever
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: disease_has_feature MONDO:0002258 ! pharyngitis
relationship: disease_has_feature MONDO:0003799 ! conjunctivitis
relationship: disease_has_infectious_agent NCBITaxon:10508 ! Adenoviridae

[Term]
id: MONDO:0005912
name: phencyclidine abuse
def: "The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning." [MESH:D010623]
synonym: "PCP abuse" EXACT [DOID:5062]
synonym: "phencyclidine abuse" EXACT [DOID:5062]
xref: DOID:5062 {source="EFO:0007436", source="MONDO:equivalentTo"}
xref: ICD9:305.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010623 {source="EFO:0007436", source="MONDO:equivalentTo", source="DOID:5062"}
xref: SCTID:7071007 {source="MONDO:equivalentTo", source="DOID:5062"}
xref: UMLS:C0031391 {source="MEDGEN:19234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002491 {source="DOID:5062", source="MONDO:Redundant"} ! substance abuse
is_a: MONDO:0005303 {source="EFO:0007436"} ! drug dependence
intersection_of: MONDO:0002491 ! substance abuse
intersection_of: realized_in_response_to_stimulus CHEBI:8058 ! phencyclidine

[Term]
id: MONDO:0005913
name: phlebotomus fever
def: "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii." [MESH:D010217]
subset: otar {source="MONDO:OTAR"}
synonym: "pappataci fever" EXACT [DOID:11360]
synonym: "Sandfly fever" EXACT [DOID:11360]
synonym: "Sandfly-borne arboviral fever" EXACT [DOID:11360]
synonym: "Sandfly-borne Bunyavirus fever" EXACT [DOID:11360]
synonym: "Sandfly-borne phleboviral disease" EXACT [DOID:11360]
xref: DOID:11360 {source="EFO:0007437", source="MONDO:equivalentTo"}
xref: EFO:0007437 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A93.1 {source="MONDO:equivalentTo", source="DOID:11360"}
xref: ICD9:066.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11360"}
xref: MEDGEN:14597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010217 {source="EFO:0007437", source="MONDO:equivalentTo", source="DOID:11360"}
xref: SCTID:186605002 {source="DOID:11360"}
xref: SCTID:186606001 {source="DOID:11360"}
xref: SCTID:240517002 {source="DOID:11360"}
xref: SCTID:240518007 {source="DOID:11360"}
xref: SCTID:33670001 {source="DOID:11360"}
xref: SCTID:407476002 {source="MONDO:equivalentTo", source="DOID:11360"}
xref: UMLS:C0030372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14597"}
is_a: MONDO:0005108 {source="DOID:11360", source="EFO:0007437", source="MESH:D010217/inferred", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11584 ! disease has primary infectious agent Phlebovirus
intersection_of: transmitted_by NCBITaxon:29031 ! Phlebotomus papatasi

[Term]
id: MONDO:0005914
name: Picornaviridae infectious disease
def: "Virus diseases caused by the picornaviridae." [MESH:D010850]
subset: otar {source="MONDO:OTAR"}
synonym: "infections, Picornaviridae" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Picornaviridae infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:3668 {source="EFO:0007438", source="MONDO:obsolete"}
xref: EFO:0007438 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:19308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010850 {source="EFO:0007438", source="MONDO:equivalentTo"}
xref: UMLS:C0031887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19308"}
is_a: MONDO:0005108 {source="EFO:0007438", source="MESH:D010850/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12058 ! disease has primary infectious agent Picornaviridae

[Term]
id: MONDO:0005915
name: pityriasis versicolor
def: "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." [NCIT:C82981]
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Pityrosporum furfur" EXACT [DOID:9060]
synonym: "infections, Malassezia furfur" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Malassezia furfur infection" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK7902, MONDO:patterns/infectious_disease_by_agent, NCIT:C82981]
synonym: "tinea flava" RELATED []
synonym: "tinea versicolor" RELATED [MESH:D014010]
xref: DOID:9060 {source="MONDO:equivalentTo", source="EFO:0007439"}
xref: EFO:0007439 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B36.0 {source="DOID:9060", source="MONDO:equivalentTo"}
xref: ICD9:111.0 {source="DOID:9060", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:11826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014010 {source="DOID:9060", source="MONDO:equivalentTo", source="EFO:0007439"}
xref: NCIT:C112833 {source="DOID:9060"}
xref: NCIT:C82981 {source="DOID:9060", source="MONDO:equivalentTo"}
xref: SCTID:154395007 {source="DOID:9060"}
xref: SCTID:56454009 {source="DOID:9060", source="MONDO:equivalentTo"}
xref: UMLS:C0040262 {source="MEDGEN:11826", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="DOID:9060/inferred", source="ICD10CM:B36.0/inferred", source="MESH:D014010/inferred", source="MONDO:Redundant", source="NCIT:C82981"} ! fungal infectious disease
is_a: MONDO:0006547 {source="https://orcid.org/0000-0002-6601-2165"} ! exanthem
is_a: MONDO:0024268 {source="DOID:9060", source="https://www.ncbi.nlm.nih.gov/books/NBK7902"} ! superficial mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:55194 ! Malassezia furfur

[Term]
id: MONDO:0005916
name: placenta accreta
def: "The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)" [NCIT:C26856]
subset: otar {source="MONDO:OTAR"}
synonym: "accreta, placenta" RELATED [MESH:D010921]
synonym: "Increta, placenta" RELATED [MESH:D010921]
synonym: "Percreta, placenta" RELATED [MESH:D010921]
synonym: "placenta Increta" RELATED [MESH:D010921]
synonym: "placenta Percreta" RELATED [MESH:D010921]
xref: DOID:4744 {source="MONDO:equivalentTo", source="EFO:0007440"}
xref: EFO:0007440 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:O43.21 {source="DOID:4744"}
xref: MEDGEN:10780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010921 {source="MONDO:equivalentTo", source="DOID:4744", source="EFO:0007440"}
xref: NCIT:C26856 {source="MONDO:equivalentTo", source="DOID:4744"}
xref: SCTID:70129008 {source="MONDO:equivalentTo", source="DOID:4744"}
xref: UMLS:C0032044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10780"}
is_a: MONDO:0005917 {source="DOID:4744", source="EFO:0007440", source="MESH:D010921", source="NCIT:C26856/inferred"} ! placenta disorder
relationship: disease_has_location UBERON:0001987 ! placenta

[Term]
id: MONDO:0005917
name: placenta disorder
def: "A disease involving the placenta." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of placenta" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of placenta" EXACT []
synonym: "disease, placenta" RELATED [MESH:D010922]
synonym: "disease, placental" RELATED [MESH:D010922]
synonym: "diseases, placenta" RELATED [MESH:D010922]
synonym: "diseases, placental" RELATED [MESH:D010922]
synonym: "disorder of placenta" EXACT [MONDO:patterns/location_top]
synonym: "disorder, placenta" RELATED [MESH:D010922]
synonym: "disorders, placenta" RELATED [MESH:D010922]
synonym: "placenta disease" EXACT [MESH:D010922, MONDO:patterns/location]
synonym: "placenta disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "placenta diseases" EXACT [NCIT:C26857]
synonym: "placenta disorder" EXACT [MESH:D010922, NCIT:C26857]
synonym: "placenta disorders" EXACT [MESH:D010922, NCIT:C26857]
synonym: "placental disease" RELATED [MESH:D010922]
synonym: "placental diseases" RELATED [MESH:D010922]
synonym: "placental disorder" EXACT [NCIT:C26857]
xref: DOID:780 {source="MONDO:equivalentTo"}
xref: EFO:0007441 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:O30-O48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:O43 {source="DOID:780"}
xref: ICD10CM:O43.9 {source="DOID:780"}
xref: ICD10CM:O43.90 {source="DOID:780"}
xref: ICD9:646.9 {source="DOID:780"}
xref: ICD9:656.70 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010922 {source="MONDO:equivalentTo", source="DOID:780"}
xref: MESH:D011248 {source="DOID:780"}
xref: MESH:NoID {source="EFO:0007441"}
xref: NCIT:C26857 {source="MONDO:equivalentTo", source="DOID:780"}
xref: NCIT:C27619 {source="DOID:780"}
xref: NCIT:C34941 {source="MONDO:otherHierarchy", source="DOID:780"}
xref: NCIT:C35169 {source="DOID:780"}
xref: SCTID:125586008 {source="MONDO:equivalentTo", source="DOID:780"}
xref: SCTID:156069003 {source="DOID:780"}
xref: SCTID:156097009 {source="DOID:780"}
xref: SCTID:156123001 {source="DOID:780"}
xref: SCTID:156131006 {source="DOID:780"}
xref: SCTID:172422001 {source="DOID:780"}
xref: SCTID:173300003 {source="DOID:780"}
xref: SCTID:198881004 {source="DOID:780"}
xref: SCTID:199152008 {source="DOID:780"}
xref: SCTID:23288008 {source="DOID:780"}
xref: SCTID:267293009 {source="DOID:780"}
xref: SCTID:267311008 {source="DOID:780"}
xref: SCTID:267314000 {source="DOID:780"}
xref: SCTID:90821003 {source="DOID:780"}
xref: UMLS:C0032045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10781"}
is_a: MONDO:0002654 {source="DOID:780"} ! uterine disorder
is_a: MONDO:0024575 {source="MESH:D010922", source="NCIT:C26857"} ! pregnancy disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001987 ! placenta

[Term]
id: MONDO:0005918
name: placenta praevia
def: "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor." [MESH:D010923]
subset: otar {source="MONDO:OTAR"}
synonym: "placenta praevia" EXACT [MESH:D010923]
synonym: "placenta previa" EXACT [NCIT:C26858]
xref: DOID:11060 {source="MONDO:equivalentTo", source="EFO:0007442"}
xref: EFO:0007442 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:O44 {source="DOID:11060"}
xref: MEDGEN:10782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010923 {source="DOID:11060", source="MONDO:equivalentTo", source="EFO:0007442"}
xref: NCIT:C26858 {source="DOID:11060", source="MONDO:equivalentTo"}
xref: SCTID:157059004 {source="DOID:11060"}
xref: SCTID:198930005 {source="DOID:11060"}
xref: SCTID:36813001 {source="DOID:11060", source="MONDO:equivalentTo"}
xref: UMLS:C0032046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10782"}
is_a: MONDO:0005917 {source="DOID:11060", source="EFO:0007442", source="MESH:D010923", source="NCIT:C26858/inferred"} ! placenta disorder

[Term]
id: MONDO:0005919
name: placental insufficiency
def: "Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus." [MESH:D010927]
subset: gard_rare {source="GARD:21823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:439167"}
subset: ordo_disorder {source="Orphanet:439167"}
subset: orphanet_rare {source="Orphanet:439167"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "insufficiency, placental" RELATED [MESH:D010927]
synonym: "uteroplacental vascular insufficiency" EXACT [Orphanet:439167]
xref: DOID:3891 {source="MONDO:equivalentTo", source="EFO:0007443"}
xref: EFO:0007443 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21823 {source="MONDO:GARD"}
xref: ICD10CM:O36.5 {source="Orphanet:439167/ntbt", source="Orphanet:439167"}
xref: ICD9:762.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010927 {source="DOID:3891", source="MONDO:equivalentTo", source="EFO:0007443"}
xref: Orphanet:439167 {source="MONDO:equivalentTo"}
xref: SCTID:156185006 {source="DOID:3891"}
xref: SCTID:199610002 {source="DOID:3891"}
xref: SCTID:237292005 {source="DOID:3891", source="MONDO:equivalentTo"}
xref: SCTID:267337006 {source="DOID:3891"}
xref: UMLS:C0032051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45942"}
is_a: MONDO:0005917 {source="DOID:3891", source="EFO:0007443", source="MESH:D010927"} ! placenta disorder
is_a: MONDO:0024575 {source="Orphanet:439167"} ! pregnancy disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare

[Term]
id: MONDO:0005920
name: Plasmodium falciparum malaria
def: "Malaria resulting from infection by Plasmodium falciparum." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "falciparum malaria" EXACT [DOID:14067, NCIT:C34798]
synonym: "falciparum malaria [malignant tertian]" EXACT [DOID:14067, ICD9CM:084.0]
synonym: "malaria fever, subtertian" EXACT [DOID:14067]
synonym: "malignant tertian fever" EXACT [DOID:14067]
synonym: "malignant tertian fever (finding)" EXACT [DOID:14067]
synonym: "Plasmodium falciparum malaria, unspecified" EXACT [DOID:14067]
xref: DOID:14067 {source="EFO:0007444", source="MONDO:equivalentTo"}
xref: EFO:0007444 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B50 {source="DOID:14067"}
xref: ICD10CM:B50.9 {source="DOID:14067"}
xref: ICD9:084.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14067"}
xref: ICD9:084.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016778 {source="EFO:0007444", source="MONDO:equivalentTo", source="DOID:14067"}
xref: NCIT:C34798 {source="MONDO:equivalentTo", source="DOID:14067"}
xref: SCTID:186802002 {source="DOID:14067"}
xref: SCTID:187504004 {source="DOID:14067"}
xref: SCTID:248441000 {source="DOID:14067"}
xref: SCTID:62676009 {source="MONDO:equivalentTo", source="DOID:14067"}
xref: UMLS:C0024535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6185"}
is_a: MONDO:0005136 {source="DOID:14067", source="EFO:0007444", source="MESH:D016778", source="MONDO:Redundant", source="NCIT:C34798"} ! malaria
intersection_of: MONDO:0005136 ! malaria
intersection_of: disease_has_infectious_agent NCBITaxon:5833 ! Plasmodium falciparum

[Term]
id: MONDO:0005921
name: Plasmodium vivax malaria
def: "Malaria resulting from infection by Plasmodium vivax." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malaria by Plasmodium vivax" EXACT [DOID:12978]
synonym: "vivax malaria" EXACT [DOID:12978, NCIT:C34800]
xref: DOID:12978 {source="EFO:0007445", source="MONDO:equivalentTo"}
xref: EFO:0007445 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B51 {source="DOID:12978", source="MONDO:equivalentTo"}
xref: ICD10CM:B51.9 {source="DOID:12978"}
xref: ICD9:084.1 {source="DOID:12978", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016780 {source="EFO:0007445", source="DOID:12978", source="MONDO:equivalentTo"}
xref: NCIT:C34800 {source="DOID:12978", source="MONDO:equivalentTo"}
xref: SCTID:27052006 {source="DOID:12978", source="MONDO:equivalentTo"}
xref: UMLS:C0024537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6186"}
is_a: MONDO:0005136 {source="DOID:12978", source="EFO:0007445", source="MESH:D016780", source="MONDO:Redundant", source="NCIT:C34800"} ! malaria
intersection_of: MONDO:0005136 ! malaria
intersection_of: disease_has_infectious_agent NCBITaxon:5855 ! Plasmodium vivax

[Term]
id: MONDO:0005922
name: pleural tuberculosis
def: "Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pearly disease" EXACT [DOID:106]
synonym: "pleura tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculosis of pleura" EXACT [DOID:106]
synonym: "tuberculous pleurisy" EXACT [DOID:106, ICD9CM:012.0]
synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT [DOID:106]
synonym: "tuberculous pleuritis" EXACT [DOID:106]
xref: DOID:106 {source="EFO:0007446", source="MONDO:equivalentTo"}
xref: EFO:0007446 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A15.6 {source="DOID:106", source="MONDO:equivalentTo"}
xref: ICD9:010.1 {source="DOID:106"}
xref: ICD9:010.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:010.12 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:010.16 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:012.0 {source="DOID:106"}
xref: ICD9:012.00 {source="DOID:106"}
xref: MEDGEN:22517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014396 {source="DOID:106", source="EFO:0007446", source="MONDO:equivalentTo"}
xref: NCIT:C26898 {source="DOID:106", source="MONDO:equivalentTo"}
xref: SCTID:170713008 {source="DOID:106"}
xref: SCTID:171699006 {source="DOID:106"}
xref: SCTID:186172004 {source="DOID:106", source="MONDO:equivalentTo"}
xref: SCTID:186182003 {source="DOID:106"}
xref: SCTID:186183008 {source="DOID:106"}
xref: SCTID:186186000 {source="DOID:106"}
xref: SCTID:36379004 {source="DOID:106"}
xref: SCTID:68706009 {source="DOID:106"}
xref: UMLS:C0041326 {source="MEDGEN:22517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="DOID:106"} ! extrapulmonary tuberculosis
is_a: MONDO:0000986 {source="NCIT:C26898"} ! pleurisy
is_a: MONDO:0002037 {source="DOID:106", source="MESH:D014396", source="MONDO:Redundant", source="NCIT:C26898/inferred"} ! pleural disorder
is_a: MONDO:0018076 {source="DOID:106/inferred", source="EFO:0007446", source="ICD10CM:A15.6/inferred", source="MESH:D014396", source="MONDO:Redundant", source="NCIT:C26898"} ! tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0000977 ! pleura
relationship: disease_has_feature HP:0002202 ! Pleural effusion

[Term]
id: MONDO:0005923
name: Pneumocystis infectious disease
def: "Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally." [MESH:D016720]
subset: otar {source="MONDO:OTAR"}
synonym: "infections, Pneumocystis" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Pneumocystis infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
xref: DOID:11340 {source="EFO:0007447", source="MONDO:obsolete"}
xref: EFO:0007447 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:163415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016720 {source="EFO:0007447", source="MONDO:equivalentTo"}
xref: UMLS:C0851886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163415"}
is_a: MONDO:0005550 {source="EFO:0007447", source="MONDO:Redundant", source="MONDO:indirect"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:4753 ! Pneumocystis

[Term]
id: MONDO:0005924
name: obsolete pneumocystosis
is_obsolete: true
replaced_by: MONDO:0019121

[Term]
id: MONDO:0005925
name: pneumonic pasteurellosis
def: "Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal." [MESH:D012766]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3730 {source="EFO:0007449", source="MONDO:obsolete"}
xref: EFO:0007449 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:11408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012766 {source="EFO:0007449", source="MONDO:equivalentTo"}
xref: UMLS:C0036969 {source="MEDGEN:11408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:0007449", source="MESH:D012766/inferred"} ! bacterial infectious disease

[Term]
id: MONDO:0005926
name: obsolete poliomyelitis
is_obsolete: true
replaced_by: MONDO:0017373

[Term]
id: MONDO:0005927
name: polyomavirus infectious disease
def: "Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal)." [MESH:D027601]
subset: otar {source="MONDO:OTAR"}
xref: DOID:647 {source="MONDO:obsolete", source="EFO:0007451"}
xref: EFO:0007451 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:215447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D027601 {source="MONDO:equivalentTo", source="EFO:0007451"}
xref: UMLS:C0949804 {source="MONDO:equivalentTo", source="MEDGEN:215447", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007451", source="MESH:D027601/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:36362 ! disease has primary infectious agent Polyomavirus sp.

[Term]
id: MONDO:0005928
name: post-thrombotic syndrome
def: "A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing." [MESH:D011186]
subset: otar {source="MONDO:OTAR"}
synonym: "postphlebetic syndrome with inflammation" EXACT [DOID:2364]
synonym: "postphlebetic syndrome with ulcer" EXACT [DOID:2364]
synonym: "postphlebetic syndrome with ulcer and inflammation" EXACT [DOID:2364]
synonym: "postphlebitic syndrome" EXACT [DOID:2364]
synonym: "venous stress disorder" EXACT [DOID:2364]
xref: DOID:2364 {source="MONDO:equivalentTo", source="EFO:0007452"}
xref: EFO:0007452 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I87.0 {source="DOID:2364", source="MONDO:equivalentTo"}
xref: ICD9:459.1 {source="DOID:2364", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:459.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:459.11 {source="DOID:2364"}
xref: ICD9:459.12 {source="DOID:2364"}
xref: ICD9:459.13 {source="DOID:2364"}
xref: MEDGEN:46043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011186 {source="DOID:2364", source="MONDO:equivalentTo", source="EFO:0007452"}
xref: SCTID:155460004 {source="DOID:2364"}
xref: SCTID:20427003 {source="DOID:2364", source="MONDO:equivalentTo"}
xref: SCTID:410013001 {source="DOID:2364"}
xref: UMLS:C0032807 {source="MONDO:equivalentTo", source="MEDGEN:46043", source="MONDO:MEDGEN"}
is_a: MONDO:0000945 {source="DOID:2364", source="MESH:D011186"} ! venous insufficiency

[Term]
id: MONDO:0005929
name: postpartum depression
def: "A type of clinical depression that occurs after childbirth." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "depression, post-Natal" RELATED [MESH:D019052]
synonym: "depression, post-partum" RELATED [MESH:D019052]
synonym: "depression, postnatal" RELATED [MESH:D019052]
synonym: "depressive episode with postpartum onset" EXACT [NCIT:C92852]
synonym: "major depressive episode with peripartum onset" EXACT [NCIT:C92852]
synonym: "maternity blues" EXACT [DOID:9478]
synonym: "post Natal depression" RELATED [MESH:D019052]
synonym: "post partum depression" RELATED [MESH:D019052]
synonym: "post-Natal depression" RELATED [MESH:D019052]
synonym: "post-partum depression" RELATED [MESH:D019052]
synonym: "postnatal depression" EXACT [DOID:9478, MESH:D019052]
synonym: "postpartum depression" EXACT [MESH:D019052]
xref: DOID:9478 {source="MONDO:equivalentTo", source="EFO:0007453"}
xref: EFO:0007453 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F53 {source="MONDO:relatedTo", source="DOID:9478"}
xref: MEDGEN:66359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019052 {source="MONDO:equivalentTo", source="DOID:9478", source="EFO:0007453"}
xref: NCIT:C92852 {source="MONDO:equivalentTo", source="DOID:9478"}
xref: SCTID:147016002 {source="DOID:9478"}
xref: SCTID:154889000 {source="DOID:9478"}
xref: SCTID:191740008 {source="DOID:9478"}
xref: SCTID:192475007 {source="DOID:9478"}
xref: SCTID:268753005 {source="DOID:9478"}
xref: SCTID:279225001 {source="MONDO:equivalentTo"}
xref: SCTID:58703003 {source="DOID:9478"}
xref: UMLS:C0221074 {source="MEDGEN:66359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002050 {source="DOID:9478/inferred", source="MESH:D019052", source="NCIT:C92852"} ! depressive disorder
relationship: excluded_subClassOf MONDO:0012048 {source="DOID:9478", source="https://orcid.org/0000-0001-5208-3432"} ! endogenous depression

[Term]
id: MONDO:0005930
name: obsolete postpoliomyelitis syndrome
is_obsolete: true
replaced_by: MONDO:0017416

[Term]
id: MONDO:0005931
name: obsolete progressive multifocal leukoencephalopathy
is_obsolete: true
replaced_by: MONDO:0016318

[Term]
id: MONDO:0005932
name: pseudorabies
def: "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals." [MESH:D011557]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3902 {source="EFO:0007457", source="MONDO:obsolete"}
xref: EFO:0007457 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:18730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011557 {source="EFO:0007457", source="MONDO:equivalentTo"}
xref: UMLS:C0033839 {source="MONDO:equivalentTo", source="MEDGEN:18730", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007457", source="MESH:D011557/inferred"} ! viral infectious disease

[Term]
id: MONDO:0005933
name: pulmonary blastoma
def: "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." [NCIT:C3732]
subset: gard_rare {source="GARD:18864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64741"}
subset: orphanet_rare {source="Orphanet:64741"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blastoma of lung" EXACT [DOID:4765, NCIT:C3732]
synonym: "blastoma of the lung" EXACT [NCIT:C3732]
synonym: "lung blastoma" EXACT [MONDO:patterns/location, NCIT:C3732]
synonym: "Pneumoblastoma" EXACT [NCIT:C3732, Orphanet:64741]
synonym: "pulmonary blastoma" EXACT [NCIT:C3732]
xref: DOID:4765 {source="EFO:0007458", source="MONDO:equivalentTo"}
xref: EFO:0007458 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18864 {source="MONDO:GARD"}
xref: ICD10CM:C34.1 {source="Orphanet:64741/nd", source="Orphanet:64741"}
xref: ICD10CM:C34.2 {source="Orphanet:64741/nd", source="Orphanet:64741"}
xref: ICD10CM:C34.3 {source="Orphanet:64741/nd", source="Orphanet:64741"}
xref: ICD10CM:C34.8 {source="Orphanet:64741/nd", source="Orphanet:64741"}
xref: ICD10CM:C34.9 {source="Orphanet:64741/nd", source="Orphanet:64741"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8972/3 {source="NCIT:C3732"}
xref: MEDGEN:61645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018202 {source="EFO:0007458", source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="Orphanet:64741/e"}
xref: NCIT:C3732 {source="DOID:4765", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:64741 {source="MONDO:equivalentTo"}
xref: SCTID:189815007 {source="DOID:4765", source="MONDO:equivalentTo"}
xref: SCTID:43149009 {source="DOID:4765"}
xref: UMLS:C0206629 {source="MEDGEN:61645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005565 {source="DOID:4765", source="MONDO:Redundant", source="NCIT:C3732"} ! blastoma
is_a: MONDO:0006279 {source="NCIT:C3732"} ! lung sarcomatoid carcinoma
intersection_of: MONDO:0005565 ! blastoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0005934
name: obsolete pyruvate decarboxylase deficiency
is_obsolete: true
replaced_by: MONDO:0019169

[Term]
id: MONDO:0005935
name: obsolete reactive arthritis
is_obsolete: true
replaced_by: MONDO:0017376

[Term]
id: MONDO:0005936
name: recurrent pneumonia
def: "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae." [MESH:D009165]
subset: otar {source="MONDO:OTAR"}
synonym: "recurrent pneumonia" EXACT [MONDO:ambiguous]
synonym: "recurrent pneumonia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0007461 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0006532 {source="MONDO:otherHierarchy"}
xref: MEDGEN:195802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009165 {source="EFO:0007461"}
xref: SCTID:699014000 {source="MONDO:equivalentTo"}
xref: UMLS:C0694550 {source="MEDGEN:195802", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005249 {source="EFO:0007461"} ! pneumonia
property_value: IAO:0000589 "recurrent pneumonia (disease)" xsd:string

[Term]
id: MONDO:0005937
name: REM sleep behavior disorder
def: "A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)" [MESH:D020187]
subset: otar {source="MONDO:OTAR"}
synonym: "rapid eye movement sleep behavior disorder" EXACT [DOID:9091]
synonym: "rapid eye movement sleep behaviour disorder" EXACT OMO:0003005 []
xref: DOID:9091 {source="MONDO:equivalentTo", source="EFO:0007462"}
xref: EFO:0007462 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G47.52 {source="DOID:9091", source="MONDO:equivalentTo"}
xref: ICD9:327.42 {source="DOID:9091", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:780.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:199730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020187 {source="DOID:9091", source="MONDO:equivalentTo", source="EFO:0007462"}
xref: SCTID:415238003 {source="DOID:9091", source="MONDO:equivalentTo"}
xref: UMLS:C0751772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199730"}
is_a: MONDO:0003406 {source="DOID:9091", source="EFO:0007462", source="ICD10CM:G47.52", source="MESH:D020187/inferred", source="MONDO:Redundant"} ! sleep-wake disorder
intersection_of: MONDO:0003406 ! sleep-wake disorder
intersection_of: disease_disrupts GO:0042747 ! circadian sleep/wake cycle, REM sleep
relationship: excluded_subClassOf MONDO:0005084 {source="EFO:0007462", source="https://orcid.org/0000-0001-5208-3432"} ! mental disorder

[Term]
id: MONDO:0005938
name: renal tuberculosis
def: "Infection of the kidney due to mycobacteria." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "kidney tuberculosis" EXACT [MONDO:patterns/location]
synonym: "tuberculosis of kidney" EXACT [DOID:9733, ICD9CM:016.0]
xref: DOID:9733 {source="MONDO:equivalentTo", source="EFO:0007463"}
xref: EFO:0007463 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:016.0 {source="DOID:9733"}
xref: ICD9:016.00 {source="DOID:9733", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014398 {source="DOID:9733", source="MONDO:equivalentTo", source="EFO:0007463"}
xref: NCIT:C123020 {source="DOID:9733", source="MONDO:equivalentTo"}
xref: SCTID:186236001 {source="DOID:9733"}
xref: SCTID:44323002 {source="DOID:9733", source="MONDO:equivalentTo"}
xref: UMLS:C0041328 {source="MEDGEN:21728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:9733", source="MESH:D014398", source="MONDO:Redundant"} ! kidney disorder
is_a: MONDO:0006002 {source="DOID:9733", source="MESH:D014398", source="MONDO:Redundant"} ! urogenital tuberculosis
is_a: MONDO:0018076 {source="DOID:9733/inferred", source="EFO:0007463", source="MESH:D014398/inferred", source="MONDO:Redundant", source="NCIT:C123020"} ! tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0005939
name: Reoviridae infectious disease
def: "Infections produced by reoviruses, general or unspecified." [MESH:D012088]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, Reoviridae" RELATED [MESH:D012088]
synonym: "infection, Reovirus" RELATED [MESH:D012088]
synonym: "infections, Reoviridae" RELATED [MESH:D012088]
synonym: "infections, Reovirus" RELATED [MESH:D012088]
synonym: "Reoviridae infection" RELATED [MESH:D012088]
synonym: "Reovirus infection" RELATED [MESH:D012088]
synonym: "Reovirus infections" RELATED [MESH:D012088]
xref: DOID:1334 {source="MONDO:obsolete", source="EFO:0007464"}
xref: EFO:0007464 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:48410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012088 {source="MONDO:equivalentTo", source="EFO:0007464"}
xref: UMLS:C0035112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48410"}
is_a: MONDO:0005108 {source="EFO:0007464", source="MESH:D012088/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10880 ! disease has primary infectious agent

[Term]
id: MONDO:0005940
name: respirovirus infectious disease
def: "Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface." [MESH:D010253]
subset: otar {source="MONDO:OTAR"}
synonym: "infections, Respirovirus" RELATED [MESH:D010253]
xref: DOID:3729 {source="MONDO:obsolete", source="EFO:0007465"}
xref: EFO:0007465 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:811417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010253 {source="MONDO:equivalentTo", source="EFO:0007465"}
xref: UMLS:C3714630 {source="MEDGEN:811417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007465", source="MESH:D010253/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:186938 ! disease has primary infectious agent Respirovirus

[Term]
id: MONDO:0005941
name: retroperitoneal cancer
def: "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of retroperitoneal space" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of retroperitoneal space" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of retroperitoneum" RELATED [DOID:5875, ICD9CM:158.0]
synonym: "malignant neoplasm of retroperitoneum and peritoneum" EXACT [DOID:5875, ICD9CM:158]
synonym: "malignant retroperitoneal cancer" RELATED [DOID:5875]
synonym: "malignant retroperitoneal neoplasm" EXACT [NCIT:C3537]
synonym: "malignant retroperitoneal space neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT [DOID:5875]
synonym: "malignant tumour of peritoneum and retroperitoneum" EXACT OMO:0003005 []
synonym: "neoplasm of retroperitoneum" BROAD [DOID:5875]
synonym: "neoplasm of the retroperitoneum" BROAD [DOID:5875]
synonym: "retroperitoneal neoplasm" BROAD [DOID:5875, NCIT:C3357]
synonym: "retroperitoneal space cancer" EXACT []
synonym: "tumor of retroperitoneum" BROAD [DOID:5875]
synonym: "tumour of retroperitoneum" BROAD OMO:0003005 []
xref: DOID:5875 {source="EFO:0007466", source="MONDO:equivalentTo"}
xref: EFO:0007466 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C48 {source="DOID:5875"}
xref: ICD10CM:C48.0 {source="DOID:5875"}
xref: ICD9:158 {source="DOID:5875"}
xref: ICD9:158.0 {source="DOID:5875"}
xref: MEDGEN:57559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012186 {source="EFO:0007466", source="DOID:5875", source="MONDO:equivalentTo"}
xref: NCIT:C3357 {source="MONDO:relatedTo", source="DOID:5875"}
xref: NCIT:C3537 {source="DOID:5875", source="MONDO:equivalentTo"}
xref: SCTID:126872008 {source="DOID:5875", source="MONDO:equivalentTo"}
xref: SCTID:187801002 {source="DOID:5875"}
xref: SCTID:187805006 {source="DOID:5875"}
xref: SCTID:187817008 {source="DOID:5875"}
xref: SCTID:254617008 {source="DOID:5875"}
xref: SCTID:359767009 {source="DOID:5875"}
xref: SCTID:359770008 {source="DOID:5875"}
xref: SCTID:363420003 {source="DOID:5875"}
xref: SCTID:94092006 {source="DOID:5875"}
xref: UMLS:C0153465 {source="MEDGEN:57559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="DOID:5875", source="DOID:5875/inferred", source="EFO:0007466/inferred", source="MONDO:Redundant"} ! cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space

[Term]
id: MONDO:0005942
name: Reye syndrome
def: "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." [NCIT:C34983]
subset: gard_rare {source="GARD:7570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3096"}
subset: orphanet_rare {source="Orphanet:3096"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Reye's syndrome" EXACT [DOID:14525]
xref: DOID:14525 {source="EFO:0007467", source="MONDO:equivalentTo"}
xref: EFO:0007467 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7570 {source="MONDO:GARD"}
xref: ICD10CM:G93.7 {source="DOID:14525", source="Orphanet:3096/ntbt", source="Orphanet:3096"}
xref: icd11.foundation:649014905 {source="MONDO:equivalentTo", source="Orphanet:3096"}
xref: ICD9:331.81 {source="DOID:14525", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10039012 {source="Orphanet:3096/e", source="Orphanet:3096"}
xref: MEDGEN:19772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012202 {source="EFO:0007467", source="DOID:14525", source="Orphanet:3096/e", source="MONDO:equivalentTo", source="Orphanet:3096"}
xref: NCIT:C34983 {source="DOID:14525", source="MONDO:equivalentTo"}
xref: Orphanet:3096 {source="MONDO:equivalentTo"}
xref: SCTID:154998003 {source="DOID:14525"}
xref: SCTID:267688001 {source="DOID:14525"}
xref: SCTID:74351001 {source="DOID:14525", source="MONDO:equivalentTo"}
xref: UMLS:C0035400 {source="MEDGEN:19772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:14525", source="NCIT:C34983"} ! syndromic disease
is_a: MONDO:0005554 {source="https://orcid.org/0000-0002-1780-5230"} ! rheumatic disorder
is_a: MONDO:0005560 {source="EFO:0007467", source="MESH:D012202/inferred"} ! brain disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3608" xsd:anyURI

[Term]
id: MONDO:0005943
name: Rhabditida infectious disease
def: "Infections with nematodes of the order rhabditida." [MESH:D017196]
synonym: "infection, Rhabditida" RELATED [MESH:D017196]
synonym: "infections, Rhabditida" RELATED [MESH:D017196]
synonym: "Rhabditida infection" RELATED [MESH:D017196]
synonym: "Rhabditida infections" RELATED [GARD:0008203]
xref: DOID:2906 {source="EFO:0007468", source="MONDO:obsolete"}
xref: MEDGEN:57950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017196 {source="EFO:0007468", source="MONDO:equivalentTo"}
xref: UMLS:C0162631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57950"}
is_a: MONDO:0005135 {source="EFO:0007468", source="MESH:D017196/inferred"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6236 ! Rhabditida

[Term]
id: MONDO:0005944
name: Rhabdoviridae infectious disease
def: "Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis." [MESH:D018353]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, Rhabdoviridae" RELATED [MESH:D018353]
synonym: "infections, Rhabdoviridae" RELATED [MESH:D018353]
synonym: "Rhabdoviridae infection" RELATED [MESH:D018353]
xref: DOID:1982 {source="EFO:0007469", source="MONDO:obsolete"}
xref: EFO:0007469 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:60221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018353 {source="EFO:0007469", source="MONDO:equivalentTo"}
xref: UMLS:C0206751 {source="MEDGEN:60221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007469", source="MESH:D018353/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11270 ! disease has primary infectious agent Rhabdoviridae

[Term]
id: MONDO:0005945
name: rhinoscleroma
def: "A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin." [MESH:D012226]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11336 {source="MONDO:equivalentTo", source="EFO:0007470"}
xref: EFO:0007470 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:040.1 {source="DOID:11336", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:20569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012226 {source="DOID:11336", source="MONDO:equivalentTo", source="EFO:0007470"}
xref: SCTID:72409005 {source="DOID:11336", source="MONDO:equivalentTo"}
xref: UMLS:C0035468 {source="MEDGEN:20569", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:11336"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11336/inferred", source="EFO:0007470", source="MESH:D012226/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:573 ! Klebsiella pneumoniae

[Term]
id: MONDO:0005946
name: rhinosporidiosis
def: "Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi." [MESH:D012227]
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Rhinosporidium seeberi" EXACT [DOID:2409]
synonym: "Rhinosporidioses" RELATED [MESH:D012227]
synonym: "Rhinosporidium seeberi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rhinosporidium seeberi disease or disorder" EXACT []
synonym: "Rhinosporidium seeberi infectious disease" EXACT []
xref: DOID:2409 {source="MONDO:equivalentTo", source="EFO:0007471"}
xref: EFO:0007471 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B48.1 {source="MONDO:equivalentTo", source="DOID:2409"}
xref: ICD9:117.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2409"}
xref: MEDGEN:48452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012227 {source="MONDO:equivalentTo", source="EFO:0007471", source="DOID:2409"}
xref: SCTID:18140003 {source="MONDO:equivalentTo", source="DOID:2409"}
xref: UMLS:C0035469 {source="MONDO:equivalentTo", source="MEDGEN:48452", source="MONDO:MEDGEN"}
is_a: MONDO:0000307 {source="DOID:2409", source="MONDO:Entailed", source="MONDO:Redundant"} ! parasitic Ichthyosporea infectious disease
is_a: MONDO:0005135 {source="DOID:2409/inferred", source="EFO:0007471", source="MESH:D012227/inferred", source="MESH:D050738", source="MONDO:Redundant"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:90339 ! Rhinosporidium seeberi

[Term]
id: MONDO:0005947
name: rickettsial pneumonia
def: "Pneumonia caused by infection with bacteria of the family rickettsiaceae." [MESH:D011022]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Rickettsiaceae caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rickettsiaceae pneumonia" EXACT []
xref: DOID:13275 {source="EFO:0007472", source="MONDO:obsolete"}
xref: ICD9:484.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011022 {source="MONDO:equivalentTo", source="EFO:0007472"}
xref: SCTID:233621003 {source="MONDO:equivalentTo"}
xref: UMLS:C0032307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45973"}
is_a: MONDO:0005249 {source="EFO:0007472", source="MESH:D011022/inferred", source="MONDO:Redundant"} ! pneumonia
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: disease_has_infectious_agent NCBITaxon:775 ! Rickettsiaceae

[Term]
id: MONDO:0005948
name: obsolete Ritter disease
is_obsolete: true
replaced_by: MONDO:0018181

[Term]
id: MONDO:0005949
name: roseolovirus infectious disease
def: "Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children." [MESH:D019349]
subset: otar {source="MONDO:OTAR"}
synonym: "Roseolovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Roseolovirus disease or disorder" EXACT []
synonym: "Roseolovirus infectious disease" EXACT []
xref: DOID:5120 {source="MONDO:obsolete", source="EFO:0007474"}
xref: EFO:0007474 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019349 {source="MONDO:equivalentTo", source="EFO:0007474"}
xref: UMLS:C0376549 {source="MEDGEN:83999", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007474", source="MESH:D019349/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:40272 ! disease has primary infectious agent Roseolovirus

[Term]
id: MONDO:0005950
name: Salmonella gastroenteritis
def: "Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply." [MESH:D012478]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Salmonella caused gastroenteritis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: DOID:11092 {source="MONDO:obsolete", source="EFO:0007475"}
xref: EFO:0007475 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:003.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:48541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012478 {source="MONDO:equivalentTo", source="EFO:0007475"}
xref: SCTID:42338000 {source="MONDO:equivalentTo"}
xref: UMLS:C0036114 {source="MEDGEN:48541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:0007475", source="MESH:D012478/inferred"} ! bacterial infectious disease
intersection_of: MONDO:0002269 ! gastroenteritis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:590 ! Salmonella

[Term]
id: MONDO:0005951
name: obsolete sarcocystosis
is_obsolete: true
replaced_by: MONDO:0018903

[Term]
id: MONDO:0005952
name: scarlet fever
def: "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "scarlatina" EXACT [DOID:8596]
xref: DOID:8596 {source="EFO:0007477", source="MONDO:equivalentTo"}
xref: EFO:0007477 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A38 {source="MONDO:equivalentTo", source="DOID:8596"}
xref: ICD10CM:A38.9 {source="DOID:8596"}
xref: ICD9:034 {source="DOID:8596"}
xref: ICD9:034.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8596"}
xref: MEDGEN:11327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012541 {source="EFO:0007477", source="MONDO:equivalentTo", source="DOID:8596"}
xref: NCIT:C94575 {source="MONDO:equivalentTo", source="DOID:8596"}
xref: SCTID:154301006 {source="DOID:8596"}
xref: SCTID:154303009 {source="DOID:8596"}
xref: SCTID:154304003 {source="DOID:8596"}
xref: SCTID:186357007 {source="DOID:8596"}
xref: SCTID:186362008 {source="DOID:8596"}
xref: SCTID:30242009 {source="MONDO:equivalentTo", source="DOID:8596"}
xref: UMLS:C0036285 {source="MEDGEN:11327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="MESH:D012541/inferred", source="MONDO:Redundant", source="NCIT:C94575"} ! bacterial infectious disease
relationship: disease_has_feature HP:0000988 {source="MONDO:Wikidata"} ! Skin rash
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0006547 {source="MONDO:Wikidata"} ! exanthem
relationship: disease_has_infectious_agent NCBITaxon:1301 ! Streptococcus
relationship: disease_has_infectious_agent NCBITaxon:1314 {source="MONDO:Wikidata"} ! Streptococcus pyogenes
relationship: excluded_subClassOf MONDO:0004867 {source="DOID:8596", source="https://orcid.org/0000-0001-5208-3432"} ! upper respiratory tract disorder

[Term]
id: MONDO:0005953
name: scirrhous adenocarcinoma
def: "An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction." [NCIT:C2928]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma with productive fibrosis" EXACT [DOID:4024, NCIT:C2928]
synonym: "FIBROADENOCARCINOMA, malignant" EXACT [NCIT:C2928]
synonym: "fibrocarcinoma" EXACT [NCIT:C2928]
synonym: "scirrhous adenocarcinoma" EXACT [NCIT:C2928]
synonym: "scirrhous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4024]
synonym: "scirrhous carcinoma" EXACT [NCIT:C2928]
xref: DOID:4024 {source="EFO:0007478", source="MONDO:equivalentTo"}
xref: EFO:0007478 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8141/3 {source="NCIT:C2928"}
xref: MEDGEN:2873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002293 {source="DOID:4024", source="EFO:0007478", source="MONDO:equivalentTo"}
xref: NCIT:C2928 {source="DOID:4024", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:4584002 {source="DOID:4024"}
xref: UMLS:C0007135 {source="MEDGEN:2873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:4024", source="EFO:0007478", source="MESH:D002293", source="NCIT:C2928"} ! adenocarcinoma
relationship: disease_has_location CL:0000499 {source="EFO:0000784"} ! stromal cell

[Term]
id: MONDO:0005954
name: screw worm infectious disease
def: "Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A." [MESH:D012610]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cochliomyia hominivorax caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cochliomyia hominivorax disease or disorder" EXACT []
synonym: "Cochliomyia hominivorax infectious disease" EXACT []
synonym: "infection, screw worm" RELATED [MESH:D012610]
synonym: "infections, screw worm" RELATED [MESH:D012610]
synonym: "screw worm infections" RELATED [MESH:D012610]
xref: DOID:12927 {source="EFO:0007479", source="MONDO:equivalentTo"}
xref: MESH:D012610 {source="EFO:0007479", source="MONDO:equivalentTo", source="DOID:12927"}
is_a: MONDO:0019147 {source="DOID:12927", source="MESH:D012610"} ! myiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:115425 ! Cochliomyia hominivorax

[Term]
id: MONDO:0005955
name: obsolete scrub typhus
is_obsolete: true
replaced_by: MONDO:0019365

[Term]
id: MONDO:0005956
name: septicemic plague
def: "A plague in which the bacteria have entered the bloodstream." [https://www.healthline.com/health/plague#types]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:3481 {source="MONDO:equivalentTo", source="EFO:0007481"}
xref: ICD10CM:A20.7 {source="MONDO:equivalentTo", source="DOID:3481"}
xref: ICD9:020.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3481"}
xref: MEDGEN:56296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010930 {source="EFO:0007481", source="DOID:3481"}
xref: SCTID:9012003 {source="MONDO:equivalentTo", source="DOID:3481"}
xref: UMLS:C0152936 {source="MEDGEN:56296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="DOID:3481/inferred", source="EFO:0007481", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0019095 {source="DOID:3481", source="ICD10CM:A20.7", source="MONDO:Redundant"} ! plague
intersection_of: MONDO:0019095 ! plague
intersection_of: disease_has_location UBERON:0000178 ! blood

[Term]
id: MONDO:0005957
name: setariasis
def: "Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness." [MESH:D012719]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infectious disease by Setaria" EXACT [DOID:1079]
synonym: "Setaria <nematode> caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Setaria <nematode> disease or disorder" EXACT []
synonym: "Setaria <nematode> infectious disease" EXACT []
xref: DOID:1079 {source="MONDO:equivalentTo", source="EFO:0007482"}
xref: MEDGEN:11393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012719 {source="DOID:1079", source="MONDO:equivalentTo", source="EFO:0007482"}
xref: SCTID:4414005 {source="DOID:1079", source="MONDO:equivalentTo"}
xref: UMLS:C0036850 {source="MONDO:equivalentTo", source="MEDGEN:11393", source="MONDO:MEDGEN"}
is_a: MONDO:0016075 {source="DOID:1079", source="MESH:D012719"} ! filariasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:48796 ! Setaria <nematodes>

[Term]
id: MONDO:0005958
name: obsolete sex cord-stromal tumor
is_obsolete: true
replaced_by: MONDO:0006055

[Term]
id: MONDO:0005959
name: sick building syndrome
def: "A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018877]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:2710 {source="MONDO:equivalentTo", source="EFO:0007484"}
xref: EFO:0007484 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:48661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018877 {source="DOID:2710", source="MONDO:equivalentTo", source="EFO:0007484"}
xref: SCTID:19076009 {source="DOID:2710", source="MONDO:equivalentTo"}
xref: UMLS:C0037050 {source="MONDO:equivalentTo", source="MEDGEN:48661", source="MONDO:MEDGEN"}
is_a: MONDO:0000771 {source="MONDO:indirect"} ! allergic respiratory disease
is_a: MONDO:0017853 {source="DOID:2710"} ! hypersensitivity pneumonitis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020028"} ! rare
relationship: realized_in_response_to_stimulus ENVO:00000073 ! building

[Term]
id: MONDO:0005960
name: silicosis
def: "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition." [https://rarediseases.info.nih.gov/diseases/7647/silicosis]
subset: gard_rare {source="GARD:7647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "accelerated silicosis" RELATED [GARD:0007647]
synonym: "acute silicosis" RELATED [GARD:0007647]
synonym: "chronic silicosis" RELATED [GARD:0007647]
synonym: "experimental silicosis" RELATED [GARD:0007647]
synonym: "nodular silicosis" RELATED []
synonym: "pneumoconiosis caused by silica" RELATED []
synonym: "pneumoconiosis due to silica" EXACT []
synonym: "pneumoconiosis due to silicates" EXACT [DOID:10325]
synonym: "silica pneumoconiosis" EXACT [DOID:10325]
synonym: "silicatosis" RELATED []
synonym: "silicosis" EXACT []
synonym: "silicotic fibrosis of lung" EXACT [DOID:10325]
synonym: "silicotuberculosis" NARROW [DOID:10325]
xref: DOID:10325 {source="MONDO:equivalentTo", source="EFO:0007485"}
xref: EFO:0007485 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7647 {source="MONDO:GARD"}
xref: ICD10CM:J62 {source="DOID:10325"}
xref: ICD10CM:J62.8 {source="DOID:10325"}
xref: ICD9:502 {source="DOID:10325", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:20758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012829 {source="DOID:10325", source="MONDO:equivalentTo", source="EFO:0007485"}
xref: NCIT:C3369 {source="DOID:10325", source="MONDO:equivalentTo"}
xref: SCTID:155590008 {source="DOID:10325"}
xref: SCTID:196010000 {source="DOID:10325"}
xref: SCTID:805002 {source="DOID:10325", source="MONDO:equivalentTo"}
xref: UMLS:C0037116 {source="MEDGEN:20758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015926 {source="DOID:10325", source="EFO:0007485", source="MESH:D012829", source="MONDO:Redundant", source="NCIT:C3369"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:01001282 ! silica dust
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7647/silicosis" xsd:anyURI {source="GARD:0007647"}

[Term]
id: MONDO:0005961
name: sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity." [NCIT:C35024]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0050127 {source="MONDO:equivalentTo", source="EFO:0007486"}
xref: EFO:0007486 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J01 {source="DOID:0050127"}
xref: ICD10CM:J01.9 {source="DOID:0050127"}
xref: ICD10CM:J01.90 {source="DOID:0050127"}
xref: ICD9:461 {source="DOID:0050127"}
xref: ICD9:461.9 {source="DOID:0050127"}
xref: MEDGEN:20772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012852 {source="MONDO:equivalentTo", source="EFO:0007486"}
xref: NCIT:C35024 {source="MONDO:equivalentTo"}
xref: SCTID:155498004 {source="DOID:0050127"}
xref: SCTID:155501004 {source="DOID:0050127"}
xref: SCTID:15805002 {source="DOID:0050127"}
xref: SCTID:195649005 {source="DOID:0050127"}
xref: SCTID:195653007 {source="DOID:0050127"}
xref: SCTID:266378004 {source="DOID:0050127"}
xref: SCTID:36971009 {source="MONDO:equivalentTo"}
xref: UMLS:C0037199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20772"}
is_a: MONDO:0001735 {source="DOID:0050127", source="MESH:D012852", source="MONDO:Redundant", source="NCIT:C35024/inferred"} ! paranasal sinus disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001825 ! paranasal sinus

[Term]
id: MONDO:0005962
name: skeletal tuberculosis
def: "Tuberculosis of the bones or joints." [MESH:D014394]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteoarticular tuberculosis" EXACT [DOID:1639]
xref: DOID:1639 {source="MONDO:equivalentTo", source="EFO:0007487"}
xref: EFO:0007487 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A18.0 {source="DOID:1639"}
xref: ICD9:015 {source="DOID:1639"}
xref: ICD9:015.9 {source="DOID:1639"}
xref: MEDGEN:21727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014394 {source="MONDO:equivalentTo", source="EFO:0007487", source="DOID:1639"}
xref: SCTID:154287006 {source="DOID:1639"}
xref: SCTID:17653001 {source="MONDO:equivalentTo", source="DOID:1639"}
xref: SCTID:186229002 {source="DOID:1639"}
xref: SCTID:186234003 {source="DOID:1639"}
xref: SCTID:266084009 {source="DOID:1639"}
xref: UMLS:C0041324 {source="MONDO:equivalentTo", source="MEDGEN:21727", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="DOID:1639"} ! extrapulmonary tuberculosis
is_a: MONDO:0002081 {source="MESH:D014394/inferred", source="MONDO:Redundant"} ! musculoskeletal system disorder
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0001434 ! skeletal system

[Term]
id: MONDO:0005963
name: sparganosis
def: "A condition resulting from infection with the second stage larvae of the parasite Spirometra." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "infection by sparganum" EXACT [DOID:10080]
synonym: "sparganosis [larval diphyllobothriasis]" EXACT [DOID:10080, ICD9CM:123.5]
synonym: "Spirometra caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Spirometra disease or disorder" EXACT []
synonym: "Spirometra infectious disease" EXACT []
xref: DOID:10080 {source="EFO:0007488", source="MONDO:equivalentTo"}
xref: EFO:0007488 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B70.1 {source="DOID:10080", source="MONDO:equivalentTo"}
xref: ICD9:123.5 {source="DOID:10080", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013031 {source="EFO:0007488", source="DOID:10080", source="MONDO:equivalentTo"}
xref: NCIT:C35030 {source="DOID:10080", source="MONDO:equivalentTo"}
xref: SCTID:187152002 {source="DOID:10080"}
xref: SCTID:31659000 {source="DOID:10080", source="MONDO:equivalentTo"}
xref: UMLS:C0037753 {source="MEDGEN:52426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:10080", source="ICD10CM:B70.1/inferred", source="MESH:D013031/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:10080/inferred", source="EFO:0007488", source="MESH:D013031/inferred", source="MONDO:Redundant", source="NCIT:C35030"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:46580 ! Spirometra

[Term]
id: MONDO:0005964
name: sphenoid sinusitis
def: "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "sinusitis of sphenoid bone" EXACT [MONDO:design_pattern]
synonym: "sphenoid bone sinusitis" EXACT [MONDO:patterns/location]
synonym: "sphenoidal sinusitis" EXACT [DOID:10794, NCIT:C35031]
xref: DOID:10794 {source="EFO:0007489", source="MONDO:equivalentTo"}
xref: EFO:0007489 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J32.3 {source="DOID:10794"}
xref: MEDGEN:11543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015524 {source="EFO:0007489", source="MONDO:equivalentTo", source="DOID:10794"}
xref: NCIT:C35031 {source="MONDO:equivalentTo", source="DOID:10794"}
xref: SCTID:13266007 {source="MONDO:equivalentTo", source="DOID:10794"}
xref: UMLS:C0037886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11543"}
is_a: MONDO:0005961 {source="DOID:10794", source="EFO:0007489", source="MESH:D015524", source="MONDO:Redundant", source="NCIT:C35031"} ! sinusitis
intersection_of: MONDO:0005961 ! sinusitis
intersection_of: disease_has_location UBERON:0001677 ! sphenoid bone

[Term]
id: MONDO:0005965
name: spinal stenosis
def: "Narrowing of the spinal canal." [MESH:D013130]
subset: otar {source="MONDO:OTAR"}
synonym: "cervical spinal stenosis" NARROW [DOID:6725]
synonym: "lumbar spinal stenosis" NARROW [DOID:6725]
synonym: "spinal stenosis of lumbar region" NARROW [DOID:6725, ICD9CM:724.02]
xref: DOID:6725 {source="EFO:0007490", source="MONDO:equivalentTo"}
xref: EFO:0007490 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0003416 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M48.0 {source="DOID:6725"}
xref: ICD10CM:M48.00 {source="DOID:6725"}
xref: ICD10CM:M48.02 {source="DOID:6725"}
xref: ICD10CM:M48.06 {source="DOID:6725"}
xref: ICD9:723.0 {source="DOID:6725"}
xref: ICD9:724.00 {source="DOID:6725", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:724.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:396107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013130 {source="DOID:6725", source="EFO:0007490", source="MONDO:equivalentTo"}
xref: NANDO:1200372 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C177444 {source="MONDO:equivalentTo"}
xref: SCTID:156640006 {source="DOID:6725"}
xref: SCTID:156646000 {source="DOID:6725"}
xref: SCTID:18347007 {source="MONDO:relatedTo", source="DOID:6725"}
xref: SCTID:202780000 {source="DOID:6725"}
xref: SCTID:202781001 {source="DOID:6725"}
xref: SCTID:202791007 {source="DOID:6725"}
xref: SCTID:268082002 {source="DOID:6725"}
xref: SCTID:76107001 {source="DOID:6725", source="MONDO:equivalentTo"}
xref: SCTID:83561009 {source="DOID:6725"}
xref: UMLS:C1861329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396107"}
is_a: MONDO:0000836 {source="DOID:6725"} ! disease of bone structure
relationship: disease_has_location UBERON:0006692 ! vertebral canal

[Term]
id: MONDO:0005966
name: spleen cancer
def: "A malignant neoplasm involving the spleen" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of spleen" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the spleen" EXACT [NCIT:C3539]
synonym: "malignant neoplasm of spleen" EXACT [MONDO:patterns/cancer, NCIT:C3539]
synonym: "malignant neoplasm of the spleen" EXACT [NCIT:C3539]
synonym: "malignant spleen neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant splenic neoplasm" EXACT [NCIT:C3539]
synonym: "malignant splenic tumor" EXACT [DOID:672, NCIT:C3539]
synonym: "malignant splenic tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of spleen" EXACT [DOID:672, NCIT:C3539]
synonym: "malignant tumor of the spleen" EXACT [NCIT:C3539]
synonym: "malignant tumour of spleen" EXACT OMO:0003005 []
synonym: "malignant tumour of the spleen" EXACT OMO:0003005 []
synonym: "spleen cancer" EXACT [MONDO:patterns/location, NCIT:C3539]
synonym: "spleen neoplasm" BROAD [DOID:672]
synonym: "splenic cancer" EXACT [NCIT:C3539]
synonym: "splenic neoplasm" BROAD [DOID:672, NCIT:C3383]
xref: DOID:672 {source="MONDO:equivalentTo", source="EFO:0007491"}
xref: EFO:0007491 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C26.1 {source="MONDO:equivalentTo", source="DOID:672"}
xref: MEDGEN:102271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013160 {source="MONDO:equivalentTo", source="EFO:0007491", source="DOID:672"}
xref: NCIT:C3383 {source="MONDO:relatedTo", source="DOID:672"}
xref: NCIT:C3539 {source="MONDO:equivalentTo", source="DOID:672"}
xref: SCTID:127230005 {source="MONDO:equivalentTo", source="DOID:672"}
xref: SCTID:187823003 {source="DOID:672"}
xref: SCTID:254616004 {source="DOID:672"}
xref: SCTID:363499005 {source="DOID:672"}
xref: SCTID:94071006 {source="DOID:672"}
xref: UMLS:C0153470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102271"}
is_a: MONDO:0000612 {source="DOID:672", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system cancer
is_a: MONDO:0002332 {source="DOID:672", source="MESH:D013160", source="MONDO:Entailed", source="NCIT:C3539/inferred"} ! splenic disorder
is_a: MONDO:0002516 {source="ICD10CM:C26.1/inferred", source="MONDO:Redundant"} ! digestive system cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0005967
name: splenic tuberculosis
def: "Infection of the spleen with species of mycobacterium." [MESH:D014400]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:9305 {source="MONDO:equivalentTo", source="EFO:0007492"}
xref: ICD10CM:A18.85 {source="DOID:9305"}
xref: ICD9:017.7 {source="DOID:9305"}
xref: MEDGEN:11949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014400 {source="DOID:9305", source="MONDO:equivalentTo", source="EFO:0007492"}
xref: SCTID:28399005 {source="DOID:9305", source="MONDO:equivalentTo"}
xref: UMLS:C0041331 {source="MEDGEN:11949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0005968
name: sporotrichosis
def: "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound." [MESH:D013174]
subset: gard_rare {source="GARD:7692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:826"}
subset: orphanet_rare {source="Orphanet:826"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "rose gardener's disease" RELATED [GARD:0007692]
xref: DOID:14484 {source="MONDO:equivalentTo", source="EFO:0007494"}
xref: EFO:0007494 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7692 {source="MONDO:GARD"}
xref: ICD10CM:B42 {source="MONDO:equivalentTo", source="DOID:14484"}
xref: ICD10CM:B42.0 {source="Orphanet:826", source="Orphanet:826/btnt"}
xref: ICD10CM:B42.1 {source="Orphanet:826", source="Orphanet:826/btnt"}
xref: ICD10CM:B42.7 {source="Orphanet:826", source="Orphanet:826/btnt"}
xref: ICD10CM:B42.8 {source="Orphanet:826", source="Orphanet:826/btnt"}
xref: ICD10CM:B42.9 {source="DOID:14484", source="Orphanet:826", source="Orphanet:826/btnt"}
xref: ICD9:117.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14484"}
xref: MedDRA:10041736 {source="Orphanet:826", source="Orphanet:826/e"}
xref: MEDGEN:21298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013174 {source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826", source="EFO:0007494", source="Orphanet:826/e"}
xref: Orphanet:826 {source="MONDO:equivalentTo"}
xref: SCTID:154408001 {source="DOID:14484"}
xref: SCTID:187078008 {source="DOID:14484"}
xref: SCTID:187488001 {source="DOID:14484"}
xref: SCTID:266218008 {source="DOID:14484"}
xref: SCTID:42094007 {source="MONDO:equivalentTo", source="DOID:14484"}
xref: UMLS:C0038034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21298"}
is_a: MONDO:0002041 {source="DOID:14484/inferred", source="ICD10CM:B42", source="MESH:D013174/inferred", source="Orphanet:826"} ! fungal infectious disease
relationship: disease_has_infectious_agent NCBITaxon:29908 ! Sporothrix schenckii
relationship: excluded_subClassOf MONDO:0000308 {source="DOID:14484", source="https://orcid.org/0000-0001-5208-3432"} ! primary systemic mycosis
relationship: excluded_subClassOf MONDO:0002040 {source="MESH:D013174", source="https://orcid.org/0000-0001-5208-3432"} ! dermatomycosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis" xsd:anyURI {source="GARD:0007692"}

[Term]
id: MONDO:0005969
name: st. Louis encephalitis
def: "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)" [MESH:D004674]
subset: gard_rare {source="GARD:19041", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83484"}
subset: orphanet_rare {source="Orphanet:83484"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [DOID:10845]
synonym: "Saint Louis encephalitis" EXACT [Orphanet:83484]
synonym: "St. Louis encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "St. Louis encephalitis virus infectious encephalitis" EXACT []
xref: DOID:10845 {source="MONDO:equivalentTo", source="EFO:0007495"}
xref: EFO:0007495 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19041 {source="MONDO:GARD"}
xref: ICD10CM:A83.3 {source="Orphanet:83484", source="DOID:10845", source="Orphanet:83484/ntbt", source="MONDO:equivalentTo"}
xref: icd11.foundation:1306878274 {source="Orphanet:83484", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:062.3 {source="DOID:10845", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10041896 {source="Orphanet:83484", source="Orphanet:83484/e"}
xref: MEDGEN:41773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004674 {source="Orphanet:83484", source="DOID:10845", source="MONDO:equivalentTo", source="Orphanet:83484/e", source="EFO:0007495"}
xref: Orphanet:83484 {source="MONDO:equivalentTo"}
xref: SCTID:10429004 {source="DOID:10845"}
xref: SCTID:417192005 {source="DOID:10845"}
xref: SCTID:417607009 {source="DOID:10845", source="MONDO:equivalentTo"}
xref: UMLS:C0014060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41773"}
is_a: MONDO:0005763 {source="MESH:D004674/inferred", source="MONDO:Redundant"} ! Flaviviridae infectious disease
is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83484"} ! viral encephalitis
is_a: MONDO:0020067 {source="MESH:D004674/inferred", source="MONDO:Redundant", source="Orphanet:83484"} ! infectious encephalitis
intersection_of: MONDO:0020067 ! infectious encephalitis
intersection_of: MONDO:0100332 NCBITaxon:11080 ! disease has primary infectious agent St. Louis encephalitis virus
relationship: disease_has_infectious_agent NCBITaxon:11080 {source="MONDO:Wikidata"} ! St. Louis encephalitis virus
relationship: transmitted_by NCBITaxon:7174 ! Culex <genus>

[Term]
id: MONDO:0005970
name: staphylococcal pneumonia
def: "Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus." [MESH:D011023]
subset: otar {source="MONDO:OTAR"}
synonym: "Staphylococcus caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Staphylococcus pneumonia" EXACT []
xref: DOID:12608 {source="MONDO:obsolete", source="EFO:0007496"}
xref: EFO:0007496 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:482.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:482.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:482.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011023 {source="MONDO:equivalentTo", source="EFO:0007496"}
xref: SCTID:22754005 {source="MONDO:equivalentTo"}
xref: UMLS:C0032308 {source="MONDO:equivalentTo", source="MEDGEN:18532", source="MONDO:MEDGEN"}
is_a: MONDO:0005249 {source="EFO:0007496", source="MESH:D011023/inferred", source="MONDO:Redundant"} ! pneumonia
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: disease_has_infectious_agent NCBITaxon:1279 ! Staphylococcus

[Term]
id: MONDO:0005971
name: staphyloenterotoxemia
def: "Food poisoning that is caused by Staphylococcal infection." [NCIT:C35037]
subset: otar {source="MONDO:OTAR"}
synonym: "staphylococcal food poisoning" EXACT [DOID:96, ICD9CM:005.0, NCIT:C35037]
synonym: "staphylococcal toxaemia due to food" EXACT OMO:0003005 []
synonym: "staphylococcal toxemia due to food" EXACT [DOID:96]
synonym: "staphyloenterotoxicosis" EXACT [DOID:96]
xref: DOID:96 {source="MONDO:equivalentTo", source="EFO:0007497"}
xref: EFO:0007497 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A05.0 {source="DOID:96"}
xref: ICD9:005.0 {source="DOID:96", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013202 {source="DOID:96", source="MONDO:equivalentTo", source="EFO:0007497"}
xref: NCIT:C35037 {source="DOID:96", source="MONDO:equivalentTo"}
xref: SCTID:84622004 {source="DOID:96", source="MONDO:equivalentTo"}
xref: UMLS:C0038159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52482"}
is_a: MONDO:0000314 {source="DOID:96"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:96/inferred", source="EFO:0007497", source="MESH:D013202/inferred", source="MONDO:Redundant", source="NCIT:C35037/inferred"} ! bacterial infectious disease
is_a: MONDO:0024313 {source="MESH:D013202", source="NCIT:C35037"} ! staphylococcal infection
relationship: disease_has_feature HP:0001324 ! Muscle weakness

[Term]
id: MONDO:0005972
name: streptococcal pneumonia
def: "A febrile disease caused by streptococcus pneumoniae." [MESH:D011018]
subset: otar {source="MONDO:OTAR"}
synonym: "pneumococcal pneumonia" EXACT []
synonym: "pneumonia caused by streptococcus" RELATED []
synonym: "pneumonia due to streptococcus" EXACT []
synonym: "streptococcal pneumonia" EXACT []
synonym: "Streptococcus pneumonia" RELATED [DOID:0040084]
synonym: "Streptococcus pneumoniae caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus pneumoniae pneumonia" EXACT []
xref: DOID:0040084 {source="MONDO:equivalentTo"}
xref: DOID:10532 {source="EFO:0007499", source="MONDO:obsolete"}
xref: EFO:0007499 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J13 {source="MONDO:equivalentTo", source="DOID:0040084"}
xref: ICD9:481 {source="DOID:0040084"}
xref: ICD9:482.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:482.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011018 {source="EFO:0007499", source="MONDO:equivalentTo"}
xref: SCTID:233607000 {source="MONDO:equivalentTo"}
xref: UMLS:C0155862 {source="MEDGEN:57615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004652 {source="DOID:0040084", source="MESH:D011018", source="MONDO:Redundant"} ! bacterial pneumonia
is_a: MONDO:0005114 {source="MESH:D011018", source="MONDO:Redundant"} ! pneumococcal infection
is_a: MONDO:0005249 {source="EFO:0007499", source="MESH:D011018/inferred", source="MONDO:Redundant"} ! pneumonia
is_a: MONDO:0021680 {source="MESH:D011018/inferred"} ! streptococcal infection
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: disease_has_infectious_agent NCBITaxon:1313 ! Streptococcus pneumoniae

[Term]
id: MONDO:0005973
name: Strongylida infectious disease
def: "Infections with nematodes of the order strongylida." [MESH:D017206]
xref: DOID:1845 {source="EFO:0007500", source="MONDO:obsolete"}
xref: MESH:D017206 {source="EFO:0007500", source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="EFO:0007500", source="MESH:D017206/inferred", source="MONDO:Entailed", source="MONDO:indirect"} ! parasitic infectious disease

[Term]
id: MONDO:0005974
name: strongyloidiasis
def: "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection." [NCIT:C128398]
subset: gard_rare {source="GARD:8195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:76"}
subset: orphanet_rare {source="Orphanet:76"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Anguilluliasis" EXACT [Orphanet:76]
synonym: "Anguillulosis" EXACT [Orphanet:76]
synonym: "disseminated strongyloidiasis" EXACT [DOID:10955]
synonym: "infection by Strongyloides" EXACT [DOID:10955]
xref: DOID:10955 {source="EFO:0007501", source="MONDO:equivalentTo"}
xref: EFO:0007501 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8195 {source="MONDO:GARD"}
xref: ICD10CM:B78 {source="DOID:10955"}
xref: ICD10CM:B78.0 {source="Orphanet:76", source="Orphanet:76/btnt"}
xref: ICD10CM:B78.1 {source="Orphanet:76", source="Orphanet:76/btnt"}
xref: ICD10CM:B78.7 {source="Orphanet:76", source="Orphanet:76/btnt"}
xref: ICD10CM:B78.9 {source="Orphanet:76", source="DOID:10955", source="Orphanet:76/btnt"}
xref: icd11.foundation:2088326190 {source="Orphanet:76", source="MONDO:equivalentTo"}
xref: ICD9:127.2 {source="DOID:10955"}
xref: MedDRA:10042254 {source="Orphanet:76", source="Orphanet:76/e"}
xref: MEDGEN:20976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013322 {source="Orphanet:76", source="EFO:0007501", source="DOID:10955", source="MONDO:equivalentTo", source="Orphanet:76/e"}
xref: NCIT:C128398 {source="MONDO:equivalentTo"}
xref: Orphanet:76 {source="MONDO:equivalentTo"}
xref: SCTID:1214006 {source="DOID:10955"}
xref: SCTID:187176005 {source="MONDO:equivalentTo"}
xref: SCTID:187177001 {source="DOID:10955"}
xref: SCTID:187537002 {source="DOID:10955"}
xref: UMLS:C0038463 {source="MEDGEN:20976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:10955", source="MESH:D013322/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:10955/inferred", source="EFO:0007501", source="MESH:D013322/inferred", source="MONDO:Redundant", source="NCIT:C128398", source="Orphanet:76"} ! parasitic infectious disease
is_a: MONDO:0005943 {source="MESH:D013322", source="MONDO:indirect"} ! Rhabditida infectious disease
relationship: disease_has_infectious_agent NCBITaxon:6248 {source="MONDO:Wikidata"} ! Strongyloides stercoralis
relationship: disease_has_infectious_agent NCBITaxon:6308
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0005975
name: suppurative otitis media
def: "Inflammation of the middle ear with purulent discharge." [MESH:D010035]
subset: otar {source="MONDO:OTAR"}
synonym: "otitis media with effusion - purulent" EXACT [DOID:11506]
synonym: "purulent otitis media" EXACT [DOID:11506]
xref: DOID:11506 {source="EFO:0007503", source="MONDO:equivalentTo"}
xref: EFO:0007503 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H66 {source="DOID:11506"}
xref: ICD10CM:H66.4 {source="DOID:11506"}
xref: ICD10CM:H66.40 {source="DOID:11506"}
xref: ICD9:382 {source="DOID:11506"}
xref: ICD9:382.4 {source="MONDO:equivalentTo", source="DOID:11506", source="MONDO:i2s"}
xref: MEDGEN:10506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010035 {source="EFO:0007503", source="MONDO:equivalentTo", source="DOID:11506"}
xref: SCTID:155229002 {source="DOID:11506"}
xref: SCTID:194258000 {source="DOID:11506"}
xref: SCTID:194280002 {source="DOID:11506"}
xref: SCTID:194285007 {source="DOID:11506"}
xref: SCTID:267758003 {source="DOID:11506"}
xref: SCTID:38394007 {source="DOID:11506"}
xref: SCTID:39288006 {source="MONDO:equivalentTo", source="DOID:11506"}
xref: UMLS:C0029888 {source="MEDGEN:10506", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005441 {source="DOID:11506", source="EFO:0007503", source="MESH:D010035"} ! otitis media

[Term]
id: MONDO:0005976
name: syphilis
def: "A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "syphilitic chancre" EXACT [DOID:4166]
synonym: "Treponema pallidum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema pallidum disease or disorder" EXACT []
synonym: "Treponema pallidum infectious disease" EXACT []
xref: DOID:4166 {source="EFO:0007504", source="MONDO:equivalentTo"}
xref: EFO:0007504 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A51.0 {source="DOID:4166"}
xref: ICD9:097.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10062120 {source="EFO:0007504"}
xref: MEDGEN:21447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002601 {source="DOID:4166"}
xref: MESH:D013587 {source="EFO:0007504", source="MONDO:equivalentTo"}
xref: NCIT:C35055 {source="EFO:0007504", source="MONDO:equivalentTo"}
xref: SCTID:266127002 {source="DOID:4166"}
xref: SCTID:58433006 {source="DOID:4166"}
xref: SCTID:76272004 {source="EFO:0007504", source="MONDO:equivalentTo"}
xref: UMLS:C0039128 {source="MEDGEN:21447", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:4166", source="MONDO:Redundant"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:4166/inferred", source="EFO:0007504", source="MESH:D013587/inferred", source="MONDO:Redundant", source="NCIT:C35055/inferred"} ! bacterial infectious disease
is_a: MONDO:0005323 {source="MESH:D013587", source="MONDO:indirect"} ! bacterial sexually transmitted disease
is_a: MONDO:0007000 {source="MESH:D013587", source="MONDO:Redundant", source="NCIT:C35055"} ! Treponema infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:160 ! Treponema pallidum
relationship: disease_has_infectious_agent NCBITaxon:160 {source="MONDO:Wikidata"} ! Treponema pallidum
relationship: has_characteristic MONDO:0045036 ! primary infectious

[Term]
id: MONDO:0005977
name: tabes dorsalis
def: "A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "posterior spinal sclerosis" EXACT [DOID:10027]
synonym: "syphilitic myelopathy" RELATED [GARD:0008730]
synonym: "tabes dorsalis - neurosyphilis" EXACT [DOID:10027]
xref: DOID:10027 {source="MONDO:equivalentTo", source="EFO:0007505"}
xref: ICD10CM:A52.11 {source="DOID:10027", source="MONDO:equivalentTo"}
xref: ICD9:094.0 {source="DOID:10027", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013606 {source="DOID:10027", source="MONDO:equivalentTo", source="EFO:0007505"}
xref: NCIT:C35057 {source="DOID:10027", source="MONDO:equivalentTo"}
xref: SCTID:154384001 {source="DOID:10027"}
xref: SCTID:186885003 {source="DOID:10027"}
xref: SCTID:266134000 {source="DOID:10027"}
xref: SCTID:266210001 {source="DOID:10027"}
xref: SCTID:2844004 {source="DOID:10027"}
xref: SCTID:315826004 {source="DOID:10027"}
xref: SCTID:316841006 {source="DOID:10027", source="MONDO:equivalentTo"}
xref: SCTID:51928006 {source="DOID:10027"}
xref: UMLS:C0039223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21065"}
is_a: MONDO:0004944 {source="DOID:10027", source="NCIT:C35057"} ! neurosyphilis
is_a: MONDO:0005071 {source="EFO:0007505", source="MESH:D013606/inferred", source="MONDO:Redundant"} ! nervous system disorder
is_a: MONDO:0020010 {source="MONDO:Redundant"} ! infectious disorder of the nervous system
relationship: disease_has_feature HP:0000802 ! Impotence
relationship: disease_has_feature HP:0002066 ! Gait ataxia
relationship: disease_has_feature HP:0003401 ! Paresthesia
relationship: disease_has_feature HP:0100963 ! Hyperesthesia

[Term]
id: MONDO:0005978
name: theileriasis
def: "Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition." [MESH:D013801]
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Theileria" EXACT [DOID:3733]
synonym: "theileriosis" EXACT [DOID:3733]
xref: DOID:3733 {source="EFO:0007506", source="MONDO:equivalentTo"}
xref: EFO:0007506 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013801 {source="DOID:3733", source="EFO:0007506", source="MONDO:equivalentTo"}
xref: SCTID:68771000 {source="DOID:3733", source="MONDO:equivalentTo"}
xref: UMLS:C0039753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11763"}
is_a: MONDO:0002428 {source="DOID:3733", source="MESH:D013801/inferred"} ! protozoa infectious disease
relationship: disease_has_infectious_agent NCBITaxon:5873 {source="MONDO:Wikidata"} ! Theileria

[Term]
id: MONDO:0005979
name: thoracic outlet syndrome
def: "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." [NCIT:P378]
subset: gard_rare {source="GARD:7759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1766"}
subset: ordo_disorder {source="Orphanet:97330"}
subset: orphanet_rare {source="Orphanet:97330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thoracic outlet compression syndrome" EXACT [Orphanet:97330]
synonym: "TOS" EXACT ABBREVIATION [Orphanet:97330]
synonym: "TOS - thoracic outlet syndrome" EXACT [DOID:3103]
xref: DOID:3103 {source="MONDO:equivalentTo", source="EFO:0007507"}
xref: EFO:0007507 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7759 {source="MONDO:GARD"}
xref: ICD10CM:G54.0 {source="DOID:3103", source="Orphanet:97330/ntbt", source="Orphanet:97330"}
xref: MedDRA:10048627 {source="Orphanet:97330/e", source="Orphanet:97330"}
xref: MEDGEN:21158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013901 {source="DOID:3103", source="Orphanet:97330/e", source="MONDO:equivalentTo", source="EFO:0007507", source="Orphanet:97330"}
xref: NCIT:C85188 {source="DOID:3103", source="MONDO:equivalentTo"}
xref: NORD:1766 {source="MONDO:NORD"}
xref: Orphanet:97330 {source="MONDO:equivalentTo"}
xref: SCTID:128210009 {source="DOID:3103", source="MONDO:equivalentTo"}
xref: SCTID:193106006 {source="DOID:3103"}
xref: SCTID:193107002 {source="DOID:3103"}
xref: SCTID:193108007 {source="DOID:3103"}
xref: SCTID:2040007 {source="DOID:3103"}
xref: SCTID:212769008 {source="DOID:3103"}
xref: SCTID:393578000 {source="DOID:3103"}
xref: UMLS:C0039984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21158"}
is_a: MONDO:0002254 {source="NCIT:C85188"} ! syndromic disease
is_a: MONDO:0005385 {source="DOID:3103", source="EFO:0007507", source="MESH:D013901", source="MONDO:Redundant"} ! vascular disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020002"} ! rare

[Term]
id: MONDO:0005980
name: tick infestation
def: "Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks." [MESH:D013984]
subset: otar {source="MONDO:OTAR"}
synonym: "Ixodoidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ixodoidea disease or disorder" EXACT []
synonym: "Ixodoidea infectious disease" EXACT []
xref: DOID:4109 {source="MONDO:equivalentTo", source="EFO:0007508"}
xref: EFO:0007508 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:21178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013984 {source="MONDO:equivalentTo", source="DOID:4109", source="EFO:0007508"}
xref: UMLS:C0040196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21178"}
is_a: MONDO:0002875 {source="DOID:4109", source="MESH:D013984"} ! parasitic ectoparasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:297308 ! Ixodoidea

[Term]
id: MONDO:0005981
name: tick paralysis
def: "Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks." [MESH:D013985]
subset: gard_rare {source="GARD:7771", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:11285 {source="MONDO:equivalentTo", source="EFO:0007509"}
xref: EFO:0007509 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7771 {source="MONDO:GARD"}
xref: MEDGEN:52752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013985 {source="MONDO:equivalentTo", source="DOID:11285", source="EFO:0007509"}
xref: SCTID:74225001 {source="MONDO:equivalentTo", source="DOID:11285"}
xref: UMLS:C0040197 {source="MEDGEN:52752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="EFO:0007509", source="MONDO:Redundant"} ! nervous system disorder
is_a: MONDO:0005980 {source="DOID:11285", source="MONDO:Redundant"} ! tick infestation
intersection_of: MONDO:0005980 ! tick infestation
intersection_of: disease_has_feature HP:0003470 ! Paralysis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis" xsd:anyURI {source="GARD:0007771"}

[Term]
id: MONDO:0005982
name: tinea infection
def: "A skin infection caused by a fungus." [NCIT:C112181]
comment: Editor note: consider obsoleting as this is a loose grouping
subset: otar {source="MONDO:OTAR"}
synonym: "ringworm" RELATED [Wikipedia:Tinea]
synonym: "Tinea" EXACT [NCIT:C112181]
synonym: "Tinea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Tinea disease or disorder" EXACT []
synonym: "Tinea infection" EXACT [NCIT:C112181]
synonym: "Tinea infectious disease" EXACT []
xref: DOID:12404 {source="EFO:0007510", source="MONDO:equivalentObsolete"}
xref: EFO:0007510 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:52757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014005 {source="EFO:0007510"}
xref: NCIT:C112181 {source="MONDO:equivalentTo"}
xref: UMLS:C0040247 {source="MEDGEN:52757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 {source="EFO:0007510", source="MONDO:Redundant", source="NCIT:C112181/inferred"} ! infectious disease
is_a: MONDO:0021201 {source="NCIT:C112181"} ! skin infection
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0005983
name: tinea favosa
def: "A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles." [NCIT:C35072]
synonym: "favus" EXACT [DOID:4336, NCIT:C35072]
xref: DOID:4336 {source="EFO:0007511", source="MONDO:equivalentTo"}
xref: ICD10CM:B35 {source="MONDO:relatedTo", source="DOID:4336"}
xref: MEDGEN:52758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014007 {source="EFO:0007511", source="DOID:4336", source="MONDO:equivalentTo"}
xref: NCIT:C35072 {source="DOID:4336", source="MONDO:equivalentTo"}
xref: SCTID:85375000 {source="DOID:4336", source="MONDO:equivalentTo"}
xref: UMLS:C0040254 {source="MONDO:equivalentTo", source="MEDGEN:52758", source="MONDO:MEDGEN"}
is_a: MONDO:0021201 {source="MONDO:Redundant", source="NCIT:C35072"} ! skin infection
relationship: disease_has_feature HP:0100699 ! Scarring
relationship: disease_has_infectious_agent NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0005984
name: tinea pedis
def: "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." [MESH:D014008]
subset: otar {source="MONDO:OTAR"}
synonym: "athlete's foot" EXACT [DOID:12403]
synonym: "dermatophytosis of foot" EXACT [DOID:12403, ICD9CM:110.4]
synonym: "dermatophytosis of pes" EXACT [MONDO:design_pattern]
synonym: "pes dermatophytosis" EXACT [MONDO:patterns/location]
synonym: "ringworm of foot" RELATED [DOID:12403]
xref: DOID:12403 {source="EFO:0007512", source="MONDO:equivalentTo"}
xref: EFO:0007512 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B35.3 {source="DOID:12403", source="MONDO:equivalentTo"}
xref: ICD9:110.4 {source="DOID:12403", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014008 {source="DOID:12403", source="EFO:0007512", source="MONDO:equivalentTo"}
xref: SCTID:154399001 {source="DOID:12403"}
xref: SCTID:186993002 {source="DOID:12403"}
xref: SCTID:271427009 {source="DOID:12403"}
xref: SCTID:6020002 {source="DOID:12403", source="MONDO:equivalentTo"}
xref: UMLS:C0040259 {source="MEDGEN:52759", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004678 {source="DOID:12403", source="ICD10CM:B35.3", source="MONDO:Redundant"} ! dermatophytosis
is_a: MONDO:0005093 {source="EFO:0007512", source="MESH:D014008/inferred", source="MONDO:Redundant"} ! skin disorder
intersection_of: MONDO:0004678 ! dermatophytosis
intersection_of: disease_has_location UBERON:0002387 ! pes
relationship: disease_has_infectious_agent NCBITaxon:34390 ! Epidermophyton
relationship: disease_has_infectious_agent NCBITaxon:5550 ! Trichophyton

[Term]
id: MONDO:0005985
name: Togaviridae infectious disease
def: "Virus diseases caused by the togaviridae." [MESH:D014036]
synonym: "Togaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Togaviridae disease or disorder" EXACT []
xref: DOID:4865 {source="EFO:0007513", source="MONDO:obsolete"}
xref: MEDGEN:21575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014036 {source="EFO:0007513", source="MONDO:equivalentTo"}
xref: UMLS:C0040361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21575"}
is_a: MONDO:0005108 {source="EFO:0007513", source="MESH:D014036/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11018 ! disease has primary infectious agent Togaviridae

[Term]
id: MONDO:0005986
name: torovirus infectious disease
def: "Infections with viruses of the genus torovirus, family coronaviridae." [MESH:D018176]
synonym: "Torovirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Torovirus disease or disorder" EXACT []
synonym: "Torovirus infectious disease" EXACT []
xref: DOID:4088 {source="EFO:0007514", source="MONDO:obsolete"}
xref: MEDGEN:104897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018176 {source="EFO:0007514", source="MONDO:equivalentTo"}
xref: UMLS:C0206607 {source="MONDO:equivalentTo", source="MEDGEN:104897", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="EFO:0007514", source="MESH:D018176/inferred"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11155 ! disease has primary infectious agent Torovirus

[Term]
id: MONDO:0005987
name: toxascariasis
def: "Infections with nematodes of the genus toxascaris." [MESH:D017227]
synonym: "Toxascaris caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Toxascaris disease or disorder" EXACT []
synonym: "Toxascaris infectious disease" EXACT []
xref: DOID:3107 {source="EFO:0007515", source="MONDO:equivalentTo"}
xref: MEDGEN:21221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017227 {source="EFO:0007515", source="MONDO:equivalentTo", source="DOID:3107"}
xref: UMLS:C0040522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21221"}
is_a: MONDO:0004664 {source="DOID:3107", source="MESH:D017227/inferred"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:59263 ! Toxascaris

[Term]
id: MONDO:0005988
name: toxocariasis
def: "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." [NCIT:P378]
subset: gard_rare {source="GARD:18793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3343"}
subset: orphanet_rare {source="Orphanet:3343"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection by Toxascaris" EXACT [DOID:9790]
synonym: "Toxocara caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Toxocara disease or disorder" EXACT []
synonym: "Toxocara infection" EXACT [DOID:9790]
synonym: "Toxocara infectious disease" EXACT []
synonym: "visceral larva migrans" EXACT [DOID:9790]
xref: DOID:9790 {source="MONDO:equivalentTo", source="EFO:0007516"}
xref: EFO:0007516 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18793 {source="MONDO:GARD"}
xref: ICD10CM:B83.0 {source="Orphanet:3343", source="Orphanet:3343/e", source="DOID:9790"}
xref: icd11.foundation:1794729263 {source="Orphanet:3343", source="MONDO:equivalentTo"}
xref: ICD9:128.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10044269 {source="Orphanet:3343", source="Orphanet:3343/e"}
xref: MEDGEN:21596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007816 {source="EFO:0007516", source="DOID:9790"}
xref: MESH:D014120 {source="Orphanet:3343", source="MONDO:equivalentTo", source="Orphanet:3343/e"}
xref: NCIT:C34758 {source="MONDO:equivalentTo", source="DOID:9790"}
xref: NCIT:C85194 {source="MONDO:equivalentTo"}
xref: Orphanet:3343 {source="MONDO:equivalentTo"}
xref: SCTID:406619001 {source="MONDO:equivalentTo"}
xref: SCTID:87121004 {source="DOID:9790"}
xref: UMLS:C0040553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21596"}
is_a: MONDO:0004664 {source="DOID:9790", source="MESH:D014120/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:9790/inferred", source="EFO:0007516", source="MESH:D014120/inferred", source="MONDO:Redundant", source="NCIT:C34758", source="Orphanet:3343"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6264 ! Toxocara
relationship: disease_has_feature HP:0000618 {source="MONDO:Wikidata"} ! Blindness
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: disease_has_feature MONDO:0001941 {source="MONDO:Wikidata"} ! blindness (disorder)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0005989
name: toxoplasmosis
def: "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disseminated toxoplasmosis" EXACT [DOID:9965]
synonym: "Toxoplasma gondii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Toxoplasma gondii disease or disorder" EXACT []
synonym: "Toxoplasma gondii infectious disease" EXACT []
xref: DOID:9965 {source="EFO:0007517", source="MONDO:equivalentTo"}
xref: EFO:0007517 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B58 {source="DOID:9965", source="MONDO:equivalentTo"}
xref: ICD10CM:B58.9 {source="DOID:9965"}
xref: ICD9:130 {source="DOID:9965"}
xref: ICD9:130.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:130.9 {source="DOID:9965", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014123 {source="DOID:9965", source="EFO:0007517", source="MONDO:equivalentTo"}
xref: NCIT:C3418 {source="DOID:9965", source="MONDO:equivalentTo"}
xref: SCTID:154423006 {source="DOID:9965"}
xref: SCTID:187192000 {source="DOID:9965", source="MONDO:equivalentTo"}
xref: SCTID:187200007 {source="DOID:9965"}
xref: SCTID:187515009 {source="DOID:9965"}
xref: SCTID:266225001 {source="DOID:9965"}
xref: SCTID:276203008 {source="DOID:9965"}
xref: SCTID:9399000 {source="DOID:9965"}
xref: UMLS:C0040558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21597"}
is_a: MONDO:0005135 {source="DOID:9965/inferred", source="EFO:0007517", source="MESH:D014123/inferred", source="MONDO:Redundant", source="NCIT:C3418"} ! parasitic infectious disease
is_a: MONDO:0005707 {source="DOID:9965", source="MESH:D014123"} ! coccidiosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5811 ! Toxoplasma gondii
relationship: disease_has_feature HP:0002383 {source="MONDO:Wikidata"} ! Infectious encephalitis
relationship: disease_has_infectious_agent NCBITaxon:12939 ! Anemia
relationship: disease_has_infectious_agent NCBITaxon:5811 {source="MONDO:Wikidata"} ! Toxoplasma gondii

[Term]
id: MONDO:0005990
name: tracheitis
alt_id: MONDO:0020691
def: "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." [DOID:9392]
subset: otar {source="MONDO:OTAR"}
synonym: "acute tracheitis" EXACT [DOID:9392, ICD9CM:464.1]
synonym: "chronic tracheitis" EXACT [DOID:9392]
synonym: "inflammation of tracheal mucosa" EXACT []
synonym: "tracheal Inflammation" EXACT [NCIT:C78643]
synonym: "tracheal mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:9392 {source="MONDO:equivalentTo", source="EFO:0007518"}
xref: EFO:0007518 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J04.1 {source="MONDO:equivalentTo", source="DOID:9392"}
xref: ICD9:464.1 {source="DOID:9392"}
xref: MEDGEN:11870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014136 {source="MONDO:equivalentTo", source="DOID:9392", source="EFO:0007518"}
xref: NCIT:C78643 {source="MONDO:equivalentTo", source="DOID:9392"}
xref: SCTID:155507000 {source="DOID:9392"}
xref: SCTID:195693005 {source="DOID:9392"}
xref: SCTID:26650005 {source="DOID:9392"}
xref: SCTID:62994001 {source="MONDO:equivalentTo", source="DOID:9392"}
xref: UMLS:C0040584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11870"}
is_a: MONDO:0002567 {source="DOID:9392", source="MESH:D014136", source="NCIT:C78643/inferred"} ! tracheal disorder
is_a: MONDO:0005113 {source="EFO:0007518"} ! bacterial infectious disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0003126 ! trachea
relationship: disease_has_inflammation_site UBERON:0000379 ! tracheal mucosa

[Term]
id: MONDO:0005991
name: trench fever
def: "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." [MESH:D014205]
subset: gard_rare {source="GARD:18862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64694"}
subset: orphanet_rare {source="Orphanet:64694"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bartonella quintana caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bartonella quintana disease or disorder" EXACT []
synonym: "Bartonella quintana infectious disease" EXACT []
synonym: "bartonellosis due to Bartonella quintana infection" EXACT [Orphanet:64694]
synonym: "fever, trench" RELATED [MESH:D014205]
synonym: "fevers, trench" RELATED [MESH:D014205]
synonym: "His-Werner disease" EXACT [DOID:11101]
synonym: "quintan fever" EXACT [DOID:11101]
synonym: "shin bone fever" EXACT [DOID:11101]
synonym: "tibialgic fever" EXACT [DOID:11101]
synonym: "trench fever" EXACT [DOID:11101, ICD9CM:083.1]
synonym: "trench fevers" RELATED [MESH:D014205]
synonym: "Wolhynian fever" EXACT [DOID:11101]
xref: DOID:11101 {source="MONDO:equivalentTo", source="EFO:0007519"}
xref: EFO:0007519 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18862 {source="MONDO:GARD"}
xref: ICD10CM:A79.0 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="DOID:11101", source="Orphanet:64694"}
xref: icd11.foundation:1587737629 {source="MONDO:equivalentTo", source="Orphanet:64694"}
xref: ICD9:083.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11101"}
xref: MedDRA:10044582 {source="Orphanet:64694/e", source="Orphanet:64694"}
xref: MEDGEN:21637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014205 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="EFO:0007519", source="DOID:11101", source="Orphanet:64694"}
xref: Orphanet:64694 {source="MONDO:equivalentTo"}
xref: SCTID:82214002 {source="MONDO:equivalentTo", source="DOID:11101"}
xref: UMLS:C0040830 {source="MEDGEN:21637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="Orphanet:64694"} ! bacterial infectious disease
is_a: MONDO:0005664 {source="DOID:11101", source="MESH:D014205", source="MONDO:Entailed", source="MONDO:Redundant"} ! bartonellosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:803 ! Bartonella quintana
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
relationship: transmitted_by NCBITaxon:121224 ! Pediculus humanus corporis

[Term]
id: MONDO:0005992
name: obsolete trichinosis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4225" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019444

[Term]
id: MONDO:0005993
name: Trichomonas vaginitis urogenital infection
def: "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." [NCIT:C35083]
synonym: "Trichomonas vaginalis caused disease of genitourinary system" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis disease of genitourinary system" EXACT []
synonym: "Trichomonas vaginalis trichomoniasis" RELATED [DOID:0050269]
synonym: "Trichomonas vaginitis" EXACT [NCIT:C35083]
synonym: "urogenital infection by Trichomonas vaginalis" EXACT []
synonym: "urogenital infection caused by Trichomonas vaginalis" RELATED []
synonym: "urogenital Trichomonas" EXACT [DOID:0050269]
synonym: "urogenital trichomoniasis" RELATED []
xref: DOID:0050269 {source="MONDO:equivalentTo"}
xref: DOID:11943 {source="EFO:0007521", source="MONDO:obsolete"}
xref: ICD10CM:A59.0 {source="MONDO:equivalentTo"}
xref: ICD10CM:A59.00 {source="DOID:0050269"}
xref: ICD9:131.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:131.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D014247 {source="EFO:0007521", source="DOID:0050269", source="MONDO:equivalentTo"}
xref: NCIT:C35083 {source="DOID:0050269", source="MONDO:equivalentTo"}
xref: SCTID:35089004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002154 {source="DOID:0050269", source="EFO:0007521", source="ICD10CM:A59.0", source="MESH:D014247", source="MONDO:Redundant", source="NCIT:C35083"} ! trichomoniasis
is_a: MONDO:0021681 {source="ICD10CM:A59.0/inferred"} ! sexually transmitted disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5722 ! Trichomonas vaginalis
intersection_of: disease_has_location UBERON:0001008 ! renal system
relationship: disease_has_feature MONDO:0002770 ! vaginal discharge

[Term]
id: MONDO:0005994
name: trichostrongyloidiasis
def: "Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus." [MESH:D014252]
synonym: "Trichostrongyloidea caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichostrongyloidea disease or disorder" EXACT []
synonym: "Trichostrongyloidea infectious disease" EXACT []
xref: DOID:1255 {source="EFO:0007522", source="MONDO:equivalentTo"}
xref: MEDGEN:11907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014252 {source="EFO:0007522", source="DOID:1255", source="MONDO:equivalentTo"}
xref: UMLS:C0040947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11907"}
is_a: MONDO:0004664 {source="DOID:1255", source="MESH:D014252/inferred"} ! helminthiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6314

[Term]
id: MONDO:0005995
name: trichostrongylosis
def: "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin." [MESH:D014253-modified]
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Trichostrongylus" EXACT [DOID:1254]
synonym: "infection by Trichostrongylus species" EXACT [DOID:1254]
synonym: "Trichostrongyliasis" EXACT [DOID:1254, ICD9CM:127.6]
synonym: "Trichostrongylus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichostrongylus disease or disorder" EXACT []
synonym: "Trichostrongylus infectious disease" EXACT []
xref: DOID:1254 {source="EFO:0007523", source="MONDO:equivalentTo"}
xref: EFO:0007523 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B81.2 {source="DOID:1254", source="MONDO:equivalentTo"}
xref: ICD9:127.6 {source="DOID:1254", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:11908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014253 {source="DOID:1254", source="EFO:0007523", source="MONDO:equivalentTo"}
xref: SCTID:33710003 {source="DOID:1254", source="MONDO:equivalentTo"}
xref: UMLS:C0040948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11908"}
is_a: MONDO:0005994 {source="DOID:1254", source="MESH:D014253", source="MONDO:Redundant"} ! trichostrongyloidiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6318 ! Trichostrongylus

[Term]
id: MONDO:0005996
name: trichuriasis
def: "An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea." [NCIT:C128399]
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Trichuris trichura" EXACT [DOID:1252]
synonym: "trichocephaliasis" RELATED [GARD:0010720]
synonym: "trichuriasis infection" EXACT [DOID:1252, ICD9CM:127.3]
synonym: "Trichuris trichiura caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichuris trichiura disease or disorder" EXACT []
synonym: "Trichuris trichiura infection" EXACT [DOID:1252]
synonym: "Trichuris trichiura infectious disease" EXACT []
synonym: "whipworm disease" EXACT [DOID:1252]
synonym: "whipworm infection" RELATED [GARD:0010720]
xref: DOID:1252 {source="EFO:0007524", source="MONDO:equivalentTo"}
xref: EFO:0007524 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B79 {source="DOID:1252", source="MONDO:equivalentTo"}
xref: ICD9:127.3 {source="DOID:1252", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1790401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014257 {source="DOID:1252", source="EFO:0007524", source="MONDO:equivalentTo"}
xref: NCIT:C128399 {source="MONDO:equivalentTo"}
xref: SCTID:154413002 {source="DOID:1252"}
xref: SCTID:3752003 {source="DOID:1252", source="MONDO:equivalentTo"}
xref: SCTID:60570001 {source="DOID:1252"}
xref: UMLS:C5551334 {source="MEDGEN:1790401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:1252", source="ICD10CM:B79", source="MESH:D014257/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:1252/inferred", source="EFO:0007524", source="MESH:D014257/inferred", source="MONDO:Redundant", source="NCIT:C128399"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:36087 ! Trichuris trichiura
relationship: disease_has_feature HP:0001880 {source="MONDO:Wikidata"} ! Eosinophilia
relationship: disease_has_feature HP:0001931 {source="MONDO:Wikidata"} ! Hypochromic anemia
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0001357 {source="MONDO:Wikidata"} ! hypochromic anemia
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_infectious_agent NCBITaxon:36087 {source="MONDO:Wikidata"} ! Trichuris trichiura
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10720/trichuriasis" xsd:anyURI {source="GARD:0010720"}

[Term]
id: MONDO:0005997
name: tricuspid valve stenosis
def: "Narrowing or stricture of the tricuspid orifice of the heart." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "tricuspid stenosis" EXACT [DOID:4078]
xref: DOID:4078 {source="EFO:0007525", source="MONDO:equivalentTo"}
xref: EFO:0007525 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0010446 {source="MONDO:otherHierarchy"}
xref: MEDGEN:21678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014264 {source="DOID:4078", source="EFO:0007525", source="MONDO:equivalentTo"}
xref: NANDO:2200300 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50783 {source="DOID:4078", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:155346002 {source="DOID:4078"}
xref: SCTID:266296006 {source="DOID:4078"}
xref: SCTID:49915006 {source="DOID:4078", source="MONDO:equivalentTo"}
xref: UMLS:C0040963 {source="MEDGEN:21678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000471 {source="DOID:4078"} ! tricuspid valve disorder
is_a: MONDO:0005561 {source="EFO:0007525"} ! aortic disorder
relationship: disease_has_feature HP:0001718 ! Mitral stenosis
relationship: disease_has_feature HP:0006685 ! Endocardial fibrosis
relationship: disease_has_feature HP:0100584 ! Endocarditis

[Term]
id: MONDO:0005998
name: trombiculiasis
def: "Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus." [MESH:D014323-modified]
synonym: "Trombiculidae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trombiculidae disease or disorder" EXACT []
synonym: "Trombiculidae infectious disease" EXACT []
xref: DOID:8399 {source="EFO:0007526", source="MONDO:equivalentTo"}
xref: MEDGEN:11928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014323 {source="EFO:0007526", source="MONDO:equivalentTo", source="DOID:8399"}
xref: UMLS:C0041170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11928"}
is_a: MONDO:0004389 {source="DOID:8399", source="MESH:D014323"} ! mite infestation
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:92251 ! Trombiculidae

[Term]
id: MONDO:0005999
name: tuberculous empyema
def: "An empyema resulting from infection by Mycobacterium tuberculosis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tuberculous empyema (& pleural)" EXACT [DOID:14305]
xref: DOID:14305 {source="EFO:0007528", source="MONDO:equivalentTo"}
xref: EFO:0007528 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:4929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004654 {source="DOID:14305", source="EFO:0007528", source="MONDO:equivalentTo"}
xref: NCIT:C34575 {source="DOID:14305", source="MONDO:equivalentTo"}
xref: SCTID:14527007 {source="DOID:14305", source="MONDO:equivalentTo"}
xref: SCTID:186184002 {source="DOID:14305"}
xref: UMLS:C0014014 {source="MEDGEN:4929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005242 {source="EFO:0007528", source="MESH:D004654/inferred", source="MONDO:Redundant", source="NCIT:C34575"} ! empyema
is_a: MONDO:0005922 {source="MESH:D004654", source="MONDO:Redundant"} ! pleural tuberculosis
is_a: MONDO:0018076 {source="MESH:D004654/inferred", source="MONDO:Redundant", source="NCIT:C34575"} ! tuberculosis
is_a: MONDO:0018667 {source="DOID:14305"} ! pleural empyema
intersection_of: MONDO:0005242 ! empyema
intersection_of: disease_has_infectious_agent NCBITaxon:1773 ! Mycobacterium tuberculosis

[Term]
id: MONDO:0006000
name: tuberculous peritonitis
def: "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia." [MESH:D014395]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mycobacterium tuberculosis caused peritonitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium tuberculosis peritonitis" EXACT []
xref: DOID:9801 {source="MONDO:equivalentTo", source="EFO:0007529"}
xref: EFO:0007529 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A18.31 {source="DOID:9801", source="MONDO:equivalentTo"}
xref: ICD9:014.0 {source="DOID:9801"}
xref: ICD9:014.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:014.01 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:22516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014395 {source="DOID:9801", source="MONDO:equivalentTo", source="EFO:0007529"}
xref: SCTID:197170002 {source="DOID:9801"}
xref: SCTID:31838005 {source="DOID:9801"}
xref: SCTID:44572005 {source="DOID:9801", source="MONDO:equivalentTo"}
xref: UMLS:C0041325 {source="MEDGEN:22516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005768 {source="DOID:9801", source="EFO:0007529"} ! gastrointestinal tuberculosis
intersection_of: MONDO:0004522 ! peritonitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1773 ! Mycobacterium tuberculosis

[Term]
id: MONDO:0006001
name: urinary schistosomiasis
def: "A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bladder schistosomiasis" EXACT [DOID:1394, NCIT:C35362]
synonym: "cystitis with bilharziasis" EXACT [DOID:1394]
synonym: "Schistosoma haematobium" EXACT [DOID:1394]
synonym: "Schistosoma haematobium (& vesical schistosomiasis)" EXACT [DOID:1394]
synonym: "Schistosoma haematobium infection" RELATED [DOID:1394]
synonym: "Schistosoma hematobium infection" EXACT [DOID:1394, NCIT:C39294]
synonym: "Schistosoma hematobium infectious disease" EXACT [DOID:1394]
synonym: "schistosomiasis due to Schistosoma haematobium" EXACT [DOID:1394, ICD9CM:120.0]
synonym: "schistosomiasis of bladder" EXACT [DOID:1394]
synonym: "urinary bladder schistosomiasis" EXACT [MONDO:patterns/location]
synonym: "urinary schistosomiasis" EXACT []
synonym: "vesical schistosomiasis" EXACT [DOID:1394]
xref: DOID:1394 {source="MONDO:equivalentTo", source="EFO:0007530"}
xref: EFO:0007530 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:120.0 {source="DOID:1394"}
xref: MEDGEN:312392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012553 {source="DOID:1394", source="MONDO:equivalentTo", source="EFO:0007530"}
xref: NCIT:C35362 {source="DOID:1394"}
xref: NCIT:C39294 {source="DOID:1394", source="MONDO:equivalentTo"}
xref: SCTID:187112004 {source="DOID:1394"}
xref: SCTID:197846004 {source="DOID:1394"}
xref: SCTID:236706006 {source="MONDO:equivalentTo"}
xref: SCTID:53991003 {source="DOID:1394"}
xref: SCTID:60979006 {source="DOID:1394"}
xref: UMLS:C1704430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:312392"}
is_a: MONDO:0006026 {source="DOID:1394", source="MONDO:Entailed", source="MONDO:Redundant"} ! urinary bladder disorder
is_a: MONDO:0015254 {source="DOID:1394", source="MESH:D012553", source="MONDO:Redundant", source="NCIT:C39294"} ! schistosomiasis
intersection_of: MONDO:0015254 ! schistosomiasis
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder
relationship: excluded_subClassOf MONDO:0005247 {source="https://orcid.org/0000-0001-5208-3432"} ! bacterial urinary tract infection

[Term]
id: MONDO:0006002
name: urogenital tuberculosis
def: "A general term for mycobacterium infections of any part of the urogenital system in either the male or the female." [MESH:D014401]
comment: Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genitourinary system tuberculosis" EXACT [MONDO:patterns/location]
synonym: "genitourinary tuberculosis" RELATED [DOID:2149]
xref: DOID:2149 {source="MONDO:equivalentTo", source="EFO:0007531"}
xref: EFO:0007531 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A18.1 {source="DOID:2149"}
xref: ICD10CM:A18.10 {source="DOID:2149"}
xref: ICD9:016 {source="DOID:2149"}
xref: ICD9:016.9 {source="DOID:2149"}
xref: ICD9:016.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:016.92 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014401 {source="DOID:2149", source="MONDO:equivalentTo", source="EFO:0007531"}
xref: SCTID:186246004 {source="DOID:2149"}
xref: SCTID:4445009 {source="DOID:2149", source="MONDO:equivalentTo"}
xref: UMLS:C0041333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11950"}
is_a: MONDO:0000368 {source="DOID:2149"} ! extrapulmonary tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0004122 ! genitourinary system

[Term]
id: MONDO:0006003
name: uterine corpus cancer
def: "A malignant neoplasm involving the body of uterus." [https://orcid.org/0000-0002-6601-2165]
comment: Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer.
subset: otar {source="MONDO:OTAR"}
synonym: "body of uterus cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of body of uterus" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the corpus uteri" EXACT [NCIT:C61574]
synonym: "corpus uteri cancer" EXACT [DOID:9460, NCIT:C61574]
synonym: "endometrial cancer" RELATED [NCIT:C61574]
synonym: "malignant body of uterus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of body of uterus" EXACT [MONDO:patterns/cancer]
synonym: "uterine (including endometrial) cancer" EXACT [NCIT:C61574]
synonym: "uterine corpus cancer" EXACT [NCIT:C61574]
xref: DOID:9460 {source="MONDO:equivalentTo"}
xref: EFO:0007532 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C54 {source="DOID:9460"}
xref: ICD10CM:C54.9 {source="DOID:9460"}
xref: ICD9:182 {source="DOID:9460"}
xref: MEDGEN:364875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3556 {source="DOID:9460"}
xref: NCIT:C61574 {source="MONDO:equivalentTo"}
xref: SCTID:154526001 {source="DOID:9460"}
xref: SCTID:188194001 {source="DOID:9460"}
xref: SCTID:188200009 {source="DOID:9460"}
xref: SCTID:269600001 {source="DOID:9460"}
xref: SCTID:363442002 {source="DOID:9460"}
xref: SCTID:371972005 {source="MONDO:equivalentTo", source="DOID:9460"}
xref: SCTID:93718007 {source="DOID:9460"}
xref: UMLS:C1883486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:364875"}
is_a: MONDO:0002715 {source="DOID:9460", source="MONDO:Redundant", source="NCIT:C61574/inferred"} ! uterine cancer
is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C61574/inferred"} ! corpus uteri neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0006004
name: vasomotor rhinitis
def: "Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4730 {source="EFO:0007533", source="MONDO:equivalentTo"}
xref: EFO:0007533 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J30.0 {source="DOID:4730", source="MONDO:equivalentTo"}
xref: MEDGEN:11229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012223 {source="EFO:0007533", source="DOID:4730", source="MONDO:equivalentTo"}
xref: NCIT:C34988 {source="DOID:4730", source="MONDO:equivalentTo"}
xref: SCTID:155537009 {source="DOID:4730"}
xref: SCTID:266386004 {source="DOID:4730"}
xref: SCTID:8229003 {source="DOID:4730", source="MONDO:equivalentTo"}
xref: UMLS:C0035460 {source="MEDGEN:11229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003014 {source="DOID:4730", source="ICD10CM:J30.0", source="MESH:D012223", source="MONDO:Redundant", source="NCIT:C34988"} ! rhinitis
is_a: MONDO:0011786 {source="EFO:0007533"} ! allergic rhinitis
intersection_of: MONDO:0003014 ! rhinitis
intersection_of: disease_has_basis_in_disruption_of GO:0019229 ! regulation of vasoconstriction

[Term]
id: MONDO:0006005
name: Venezuelan equine encephalitis
def: "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting." [NCIT:P378]
subset: gard_rare {source="GARD:6355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Venezuelan equine encephalitis virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Venezuelan equine encephalitis virus disease or disorder" EXACT []
synonym: "Venezuelan equine encephalitis virus infectious disease" EXACT []
synonym: "Venezuelan equine fever" RELATED [DOID:9584, ICD9CM:066.2]
xref: DOID:9584 {source="EFO:0007534", source="MONDO:equivalentTo"}
xref: EFO:0007534 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6355 {source="MONDO:GARD"}
xref: ICD10CM:A92.2 {source="MONDO:equivalentTo", source="DOID:9584"}
xref: ICD9:066.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9584"}
xref: MEDGEN:4036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004685 {source="EFO:0007534", source="MONDO:equivalentTo", source="DOID:9584"}
xref: NCIT:C35121 {source="MONDO:equivalentTo", source="DOID:9584"}
xref: SCTID:417067005 {source="MONDO:equivalentTo", source="DOID:9584"}
xref: SCTID:417702007 {source="DOID:9584"}
xref: SCTID:89990001 {source="DOID:9584"}
xref: UMLS:C0014078 {source="MEDGEN:4036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:9584", source="MESH:D004685/inferred", source="MONDO:Redundant", source="NCIT:C35121/inferred"} ! viral infectious disease
is_a: MONDO:0005156 {source="EFO:0007534", source="MESH:D004685/inferred"} ! encephalomyelitis
is_a: MONDO:0018087 {source="NCIT:C35121"} ! viral hemorrhagic fever
is_a: MONDO:0024619 {source="EFO:0007534/inferred", source="MESH:D004685/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! central nervous system infectious disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11036 ! disease has primary infectious agent Venezuelan equine encephalitis virus
relationship: disease_has_infectious_agent NCBITaxon:11036 {source="MONDO:Wikidata"} ! Venezuelan equine encephalitis virus
relationship: transmitted_by NCBITaxon:7174 ! Culex <genus>
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis" xsd:anyURI {source="GARD:0006355"}

[Term]
id: MONDO:0006006
name: verrucous carcinoma
def: "A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot." [NCIT:C3781]
subset: otar {source="MONDO:OTAR"}
synonym: "verrucous carcinoma" EXACT [NCIT:C3781]
synonym: "verrucous carcinoma NOS (morphologic abnormality)" EXACT [DOID:3737]
synonym: "verrucous epidermoid carcinoma" EXACT [NCIT:C3781]
synonym: "verrucous epidermoid cell carcinoma" EXACT [NCIT:C3781]
synonym: "verrucous squamous carcinoma" EXACT [DOID:3737, NCIT:C3781]
synonym: "verrucous squamous cell carcinoma" EXACT [NCIT:C3781]
synonym: "warty carcinoma" RELATED [DOID:3737]
xref: DOID:3737 {source="EFO:0007535", source="MONDO:equivalentTo"}
xref: EFO:0007535 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8051/3 {source="NCIT:C3781"}
xref: MEDGEN:60213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018289 {source="EFO:0007535", source="MONDO:equivalentTo", source="DOID:3737"}
xref: NCIT:C3781 {source="MONDO:equivalentTo", source="DOID:3737", source="MONDO:exact-label-match"}
xref: SCTID:189563000 {source="DOID:3737"}
xref: SCTID:403904009 {source="MONDO:equivalentTo", source="DOID:3737"}
xref: SCTID:89906000 {source="DOID:3737"}
xref: UMLS:C0206706 {source="MEDGEN:60213", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002979 {source="NCIT:C3781"} ! papillary squamous carcinoma
is_a: MONDO:0005096 {source="DOID:3737", source="EFO:0007535", source="MONDO:Redundant", source="NCIT:C3781/inferred"} ! squamous cell carcinoma

[Term]
id: MONDO:0006007
name: vesicoureteral reflux
def: "Abnormal flow of urine from the urinary bladder back into the ureters." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "vesico-ureteral reflux" EXACT [DOID:9620]
synonym: "vesicoureteral reflux" EXACT [MONDO:ambiguous]
synonym: "vesicoureteral reflux (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:9620 {source="EFO:0007536", source="MONDO:equivalentTo"}
xref: EFO:0007536 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000076 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N13.7 {source="DOID:9620"}
xref: ICD10CM:N13.70 {source="DOID:9620"}
xref: ICD9:593.7 {source="DOID:9620"}
xref: MEDGEN:21852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014718 {source="EFO:0007536", source="MONDO:equivalentTo", source="DOID:9620"}
xref: NANDO:2200179 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84467 {source="MONDO:otherHierarchy", source="DOID:9620"}
xref: Orphanet:289365 {source="MONDO:relatedTo", source="DOID:9620"}
xref: SCTID:155875004 {source="DOID:9620"}
xref: SCTID:197811007 {source="MONDO:equivalentTo", source="DOID:9620"}
xref: SCTID:251994004 {source="DOID:9620"}
xref: SCTID:26836002 {source="DOID:9620"}
xref: UMLS:C0042580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21852"}
is_a: MONDO:0001926 {source="DOID:9620"} ! ureteral disorder
is_a: MONDO:0006026 {source="EFO:0007536", source="MESH:D014718"} ! urinary bladder disorder
property_value: IAO:0000589 "vesicoureteral reflux (disease)" xsd:string

[Term]
id: MONDO:0006008
name: vestibular neuronitis
def: "Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)" [MESH:D020338]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidemic neurolabyrinthitis" EXACT [DOID:12683]
synonym: "vestibular neuritis" EXACT [DOID:12683]
xref: DOID:12683 {source="EFO:0007537", source="MONDO:equivalentTo"}
xref: EFO:0007537 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A88.1 {source="DOID:12683"}
xref: ICD10CM:H81.2 {source="MONDO:equivalentTo", source="DOID:12683"}
xref: ICD10CM:H81.20 {source="DOID:12683"}
xref: ICD9:078.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12683"}
xref: ICD9:386.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12683"}
xref: MEDGEN:155655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020338 {source="EFO:0007537", source="MONDO:equivalentTo", source="DOID:12683"}
xref: SCTID:123053001 {source="DOID:12683"}
xref: SCTID:155236001 {source="DOID:12683"}
xref: SCTID:186738001 {source="MONDO:equivalentTo", source="DOID:12683"}
xref: SCTID:194356004 {source="DOID:12683"}
xref: SCTID:232293008 {source="DOID:12683"}
xref: SCTID:34243007 {source="DOID:12683"}
xref: SCTID:43680000 {source="DOID:12683"}
xref: UMLS:C0751908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155655"}
is_a: MONDO:0001563 {source="DOID:12683", source="MESH:D020338", source="MONDO:Redundant"} ! vestibulocochlear nerve disorder
intersection_of: MONDO:0002122 ! neuritis
intersection_of: disease_has_inflammation_site UBERON:0003723 ! vestibular nerve

[Term]
id: MONDO:0006009
name: viral encephalitis
def: "Encephalitis resulting from viral infection." [NCIT:C35302]
comment: Editor note: we place the Orphanet class here as it is implicitly viral
subset: gard_rare {source="GARD:19433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98252"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidemic encephalitis" RELATED EXCLUDE [DOID:646]
synonym: "viral encephalitis" EXACT [NCIT:C35302]
synonym: "Viruses caused encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses encephalitis" EXACT []
xref: DOID:646 {source="MONDO:equivalentTo", source="EFO:0007538"}
xref: EFO:0007538 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19433 {source="MONDO:GARD"}
xref: MedDRA:10058805 {source="Orphanet:98252/e", source="Orphanet:98252"}
xref: MEDGEN:116719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004671 {source="DOID:646", source="EFO:0007538"}
xref: NCIT:C34576 {source="DOID:646"}
xref: NCIT:C35302 {source="MONDO:equivalentTo"}
xref: Orphanet:98252 {source="MONDO:equivalentTo"}
xref: SCTID:186498004 {source="DOID:646"}
xref: SCTID:186499007 {source="DOID:646"}
xref: SCTID:192687008 {source="DOID:646"}
xref: SCTID:20411005 {source="DOID:646"}
xref: SCTID:285756005 {source="DOID:646"}
xref: SCTID:34476008 {source="MONDO:equivalentTo"}
xref: SCTID:68197003 {source="DOID:646"}
xref: UMLS:C0243010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116719"}
is_a: MONDO:0005108 {source="MONDO:Redundant", source="Orphanet:98252"} ! viral infectious disease
is_a: MONDO:0019956 {source="DOID:646", source="MONDO:Redundant", source="NCIT:C35302/inferred", source="Orphanet:98252"} ! encephalitis
is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:98252"} ! infectious disorder of the nervous system
is_a: MONDO:0020067 {source="MONDO:Redundant", source="NCIT:C35302"} ! infectious encephalitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious agent Viruses
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare

[Term]
id: MONDO:0006010
name: salmonid viral hemorrhagic septicemia
def: "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus)," [MESH:D031941]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3568 {source="EFO:0007539", source="MONDO:obsolete"}
xref: EFO:0007539 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D031941 {source="EFO:0007539", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:0007539", source="MESH:D031941/inferred"} ! non-human animal disease
is_a: MONDO:0024934 {source="MESH:D031941"} ! fish disease
is_a: MONDO:0700072 {source="MESH:D031941"} ! Rhabdoviridae infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:32443 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0006011
name: viral hepatitis
def: "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis." [NCIT:P378]
comment: Editor note: consider adding term for viral
subset: otar {source="MONDO:OTAR"}
synonym: "Hepatitis viral" EXACT [NCIT:C35124]
synonym: "human viral hepatitis" EXACT [DOID:1884]
synonym: "unspecified viral hepatitis with hepatic coma" NARROW [DOID:1884, ICD9CM:070.6]
synonym: "viral Hepatitis" EXACT [NCIT:C35124]
synonym: "viral hepatitis with hepatic coma" NARROW [DOID:1884]
synonym: "viral human hepatitis" EXACT [MONDO:0005343]
synonym: "Viruses caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses hepatitis" EXACT []
xref: DOID:1884 {source="MONDO:equivalentTo", source="EFO:0007540"}
xref: EFO:0004196 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B15-B19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:573.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:22652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006524 {source="DOID:1884", source="MONDO:NonHumanEquivalent"}
xref: MESH:D006525 {source="MONDO:equivalentTo", source="EFO:0004196"}
xref: NCIT:C35124 {source="MONDO:equivalentTo"}
xref: SCTID:3738000 {source="MONDO:equivalentTo"}
xref: UMLS:C0042721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22652"}
is_a: MONDO:0002251 {source="DOID:1884", source="MESH:D006525", source="MONDO:Redundant", source="NCIT:C35124"} ! hepatitis
is_a: MONDO:0005108 {source="EFO:0004196", source="MESH:D006525", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0002251 ! hepatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious agent Viruses
property_value: excluded_synonym "animal viral hepatitis" xsd:string {source="DOID:1884"}

[Term]
id: MONDO:0006012
name: viral pneumonia
def: "Inflammation of the lung parenchyma that is caused by a viral infection." [MESH:D011024]
subset: otar {source="MONDO:OTAR"}
synonym: "Viruses caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses pneumonia" EXACT []
xref: DOID:10533 {source="MONDO:equivalentTo", source="EFO:0007541"}
xref: EFO:0007541 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J12.9 {source="DOID:10533"}
xref: ICD9:480 {source="DOID:10533"}
xref: ICD9:480.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:480.9 {source="DOID:10533", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:45974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011024 {source="DOID:10533", source="MONDO:equivalentTo", source="EFO:0007541"}
xref: SCTID:155549005 {source="DOID:10533"}
xref: SCTID:195880002 {source="DOID:10533"}
xref: SCTID:195883000 {source="DOID:10533"}
xref: SCTID:75570004 {source="DOID:10533", source="MONDO:equivalentTo"}
xref: UMLS:C0032310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45974"}
is_a: MONDO:0005108 {source="MESH:D011024", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0005249 {source="DOID:10533", source="EFO:0007541", source="MESH:D011024", source="MONDO:Redundant"} ! pneumonia
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious agent Viruses
relationship: disease_has_infectious_agent NCBITaxon:10239 {source="MONDO:Wikidata"} ! Viruses

[Term]
id: MONDO:0006013
name: visna disease
def: "Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie." [MESH:D016182]
synonym: "Visna/maedi virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Visna/maedi virus disease or disorder" EXACT []
synonym: "Visna/maedi virus infectious disease" EXACT []
xref: DOID:4318 {source="MONDO:obsolete", source="EFO:0007542"}
xref: MESH:D016182 {source="MONDO:equivalentTo", source="EFO:0007542"}
is_a: MONDO:0005583 {source="EFO:0007542", source="MESH:D016182/inferred"} ! non-human animal disease
is_a: MONDO:0024985 {source="https://orcid.org/0000-0002-5002-8648"} ! sheep disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-5002-8648"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0100332 NCBITaxon:2169971 ! disease has primary infectious agent Visna-maedi virus
relationship: in_taxon NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Ovis aries

[Term]
id: MONDO:0006014
name: vulvovaginal candidiasis
def: "Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "candidal vulvovaginitis" EXACT [DOID:2272]
synonym: "candidal: [vulvovaginitis NOS] or [cervix]" EXACT [DOID:2272]
synonym: "candidal: cervix" EXACT [DOID:2272]
synonym: "candidiasis of vulva and vagina" EXACT [DOID:2272, ICD9CM:112.1]
synonym: "monilial vulvovaginitis" EXACT [DOID:2272]
synonym: "vaginal candidiasis" EXACT [NCIT:C2914]
synonym: "vulvovaginal candidiasis" EXACT [DOID:2272, NCIT:C2914]
xref: DOID:2272 {source="EFO:0007543", source="MONDO:equivalentTo"}
xref: EFO:0007543 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B37.3 {source="MONDO:equivalentTo", source="DOID:2272"}
xref: ICD9:112.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2272"}
xref: MEDGEN:195979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002181 {source="EFO:0007543", source="MONDO:equivalentTo", source="DOID:2272"}
xref: NCIT:C2914 {source="MONDO:equivalentTo", source="DOID:2272"}
xref: SCTID:154404004 {source="DOID:2272"}
xref: SCTID:187009004 {source="DOID:2272"}
xref: SCTID:266155003 {source="DOID:2272"}
xref: SCTID:72605008 {source="MONDO:equivalentTo", source="DOID:2272"}
xref: UMLS:C0700345 {source="MEDGEN:195979", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001433 {source="MESH:D002181/inferred", source="MONDO:Redundant"} ! vaginal disorder
is_a: MONDO:0002026 {source="DOID:2272", source="ICD10CM:B37.3", source="MESH:D002181", source="MONDO:Redundant", source="NCIT:C2914"} ! candidiasis
is_a: MONDO:0005093 {source="DOID:2272", source="MONDO:Redundant"} ! skin disorder
intersection_of: MONDO:0002026 ! candidiasis
intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina
intersection_of: disease_has_inflammation_site UBERON:0000997 ! mammalian vulva
relationship: disease_has_feature HP:0010783 ! Erythema

[Term]
id: MONDO:0006015
name: Waterhouse-Friderichsen syndrome
def: "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." [NCIT:P378]
subset: gard_rare {source="GARD:9449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100067"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fatal pneumococcal Waterhouse-Friderichsen syndrome" RELATED [GARD:0009449]
synonym: "meningococcal hemorrhagic adrenalitis" EXACT [DOID:9931]
synonym: "Waterhouse–Friderichsen syndrome" RELATED [GARD:0009449]
synonym: "WFS" EXACT ABBREVIATION [DOID:9931]
xref: DOID:9931 {source="EFO:0007544", source="MONDO:equivalentTo"}
xref: EFO:0007544 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9449 {source="MONDO:GARD"}
xref: ICD10CM:A39.1 {source="MONDO:equivalentTo"}
xref: ICD10EXP:A39.1+ {source="Orphanet:100067", source="Orphanet:100067/e"}
xref: ICD10EXP:E35.1* {source="Orphanet:100067", source="Orphanet:100067/e"}
xref: icd11.foundation:2072098125 {source="Orphanet:100067", source="MONDO:equivalentTo"}
xref: ICD9:036.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10047847 {source="Orphanet:100067", source="Orphanet:100067/e"}
xref: MEDGEN:234675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014884 {source="DOID:9931", source="EFO:0007544", source="Orphanet:100067", source="MONDO:equivalentTo", source="Orphanet:100067/e"}
xref: NCIT:C85225 {source="DOID:9931", source="MONDO:equivalentTo"}
xref: Orphanet:100067 {source="MONDO:equivalentTo"}
xref: SCTID:154709005 {source="DOID:9931"}
xref: SCTID:267484005 {source="DOID:9931"}
xref: SCTID:36102002 {source="MONDO:equivalentTo"}
xref: UMLS:C1403891 {source="MONDO:equivalentTo", source="MEDGEN:234675", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C85225"} ! syndromic disease
is_a: MONDO:0005495 {source="DOID:9931", source="EFO:0007544", source="MESH:D014884/inferred", source="MONDO:Redundant"} ! adrenal gland disorder
is_a: MONDO:0019801 {source="Orphanet:100067"} ! acute adrenal insufficiency
relationship: disease_has_feature HP:0001287 ! Meningitis

[Term]
id: MONDO:0006016
name: obsolete West Nile encephalitis
is_obsolete: true
replaced_by: MONDO:0019376

[Term]
id: MONDO:0006017
name: obsolete western equine encephalitis
is_obsolete: true
replaced_by: MONDO:0019380

[Term]
id: MONDO:0006018
name: Wissler syndrome
def: "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate." [MESH:D014924]
synonym: "Wissler syndrome" EXACT [DOID:3047]
synonym: "Wissler's subsepsis allergica" EXACT [DOID:3047]
synonym: "Wissler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Wissler-Fanconi syndrome" RELATED EXCLUDE [DOID:3047]
synonym: "Wissler-Fanconi syndrome (finding)" EXACT [DOID:3047]
xref: DOID:3047 {source="EFO:0007547", source="MONDO:equivalentTo"}
xref: MEDGEN:53087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014924 {source="DOID:3047", source="EFO:0007547", source="MONDO:equivalentTo"}
xref: SCTID:68190001 {source="DOID:3047", source="MONDO:relatedTo"}
xref: UMLS:C0043195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:53087"}
is_a: MONDO:0002254 {source="DOID:3047"} ! syndromic disease
is_a: MONDO:0005554 {source="PMID:27843372"} ! rheumatic disorder
relationship: excluded_subClassOf MONDO:0017767 {source="MESH:D014924", source="https://orcid.org/0000-0001-5208-3432"} ! rheumatic fever

[Term]
id: MONDO:0006019
name: yaws
def: "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease." [NCIT:P378]
subset: gard_rare {source="GARD:7913", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1872"}
subset: rare
synonym: "Bouba" EXACT [DOID:10371]
synonym: "endemic treponematoses" RELATED [GARD:0007913]
synonym: "frambesia" EXACT [DOID:10371]
synonym: "frambesia tropica" EXACT [DOID:10371]
synonym: "frambosie" EXACT [DOID:10371]
synonym: "polypapilloma tropicum" EXACT [DOID:10371]
synonym: "thymosis" EXACT [DOID:10371]
synonym: "Treponema pallidum subsp. pertenue caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema pallidum subsp. pertenue disease or disorder" EXACT []
synonym: "Treponema pallidum subsp. pertenue infectious disease" EXACT []
synonym: "Treponema pertenue infection" RELATED [GARD:0007913]
xref: DOID:10371 {source="EFO:0007548", source="MONDO:equivalentTo"}
xref: GARD:7913 {source="MONDO:GARD"}
xref: ICD10CM:A66 {source="MONDO:equivalentTo", source="DOID:10371"}
xref: ICD10CM:A66.9 {source="DOID:10371"}
xref: ICD9:102 {source="DOID:10371"}
xref: ICD9:102.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:102.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10371"}
xref: MEDGEN:12186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015001 {source="EFO:0007548", source="MONDO:equivalentTo", source="DOID:10371"}
xref: NCIT:C41353 {source="MONDO:equivalentTo", source="DOID:10371"}
xref: NORD:1872 {source="MONDO:NORD"}
xref: SCTID:154391003 {source="DOID:10371"}
xref: SCTID:186974004 {source="DOID:10371"}
xref: SCTID:187372000 {source="DOID:10371"}
xref: SCTID:266213004 {source="DOID:10371"}
xref: SCTID:70647001 {source="MONDO:equivalentTo", source="DOID:10371"}
xref: UMLS:C0043388 {source="MEDGEN:12186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:10371", source="MONDO:indirect"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:10371/inferred", source="EFO:0007548", source="MESH:D015001/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:168 ! Treponema pallidum subsp. pertenue
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7913/yaws" xsd:anyURI {source="GARD:0007913"}

[Term]
id: MONDO:0006020
name: obsolete Zollinger-Ellison syndrome
synonym: "obsolete Zollinger-Ellison syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete Zollinger-Ellison syndrome (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0019610

[Term]
id: MONDO:0006021
name: Prinzmetal angina
def: "A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma." [Wikipedia:Prinzmetal%27s_angina]
comment: Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). {source="EFO:1000013"}
subset: otar {source="MONDO:OTAR"}
synonym: "angina inversa" EXACT [DOID:0111151]
synonym: "Prinzmetal's angina" EXACT [DOID:0111151]
synonym: "Prinzmetal's variant angina" EXACT [DOID:0111151]
synonym: "variant angina" EXACT [DOID:0111151]
synonym: "variant angina pectoris" EXACT [DOID:0111151]
xref: DOID:0111151 {source="MONDO:equivalentTo"}
xref: EFO:1000013 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:413.1 {source="MONDO:equivalentTo", source="EFO:1000013", source="MONDO:i2s"}
xref: MEDGEN:295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000788 {source="DOID:0111151", source="MONDO:equivalentTo"}
xref: NCIT:C66915 {source="MONDO:otherHierarchy", source="EFO:1000013"}
xref: SCTID:23687008 {source="EFO:1000013"}
xref: SCTID:87343002 {source="MONDO:equivalentTo", source="EFO:1000013"}
xref: UMLS:C0002963 {source="MEDGEN:295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Prinzmetal's_angina {source="EFO:1000013"}
is_a: MONDO:0004995 {source="DOID:0111151/inferred", source="EFO:1000013", source="MESH:D000788/inferred"} ! cardiovascular disorder
is_a: MONDO:0005356 {source="DOID:0111151"} ! coronary vasospasm

[Term]
id: MONDO:0006022
name: acidosis disorder
def: "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acidosis" EXACT [MONDO:ambiguous]
xref: EFO:1000014 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001941 {source="MONDO:otherHierarchy"}
xref: ICD9:276.2 {source="EFO:1000014", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000138 {source="EFO:1000014"}
xref: NCIT:C83504 {source="EFO:1000014", source="MONDO:otherHierarchy"}
xref: SCTID:51387008 {source="EFO:1000014", source="MONDO:equivalentTo"}
xref: UMLS:C0001122 {source="MEDGEN:1296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0041261 ! disorder of acid-base balance
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_major_feature HP:0001941 ! Acidosis
relationship: excluded_subClassOf MONDO:0005570 {source="EFO:1000014", source="https://orcid.org/0000-0001-5208-3432"} ! hematologic disorder

[Term]
id: MONDO:0006023
name: obsolete MONDO:0006023
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016505

[Term]
id: MONDO:0006025
name: autosomal recessive disease
def: "Autosomal recessive form of disease." [MONDO:patterns/autosomal_recessive]
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal recessive disease or disorder" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive hereditary disease" EXACT []
synonym: "autosomal recessive hereditary disorder" EXACT []
synonym: "autosomal recessive inherited disease" EXACT []
synonym: "autosomal recessive inherited disorder" EXACT []
synonym: "disease or disorder, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "recessive hereditary disorder (autosomal)" RELATED []
xref: DOID:0050737 {source="MONDO:equivalentTo"}
xref: EFO:1000017 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:85995004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265388 {source="MEDGEN:539209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000429 {source="DOID:0050737"} ! autosomal genetic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0006026
name: urinary bladder disorder
def: "A disease involving the urinary bladder." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder disease" EXACT [NCIT:C2900]
synonym: "bladder disorder" EXACT [NCIT:C2900]
synonym: "disease of urinary bladder" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of urinary bladder" EXACT []
synonym: "disorder of urinary bladder" EXACT [MONDO:patterns/location_top]
synonym: "urinary bladder disease" EXACT [DOID:365, MONDO:patterns/location]
synonym: "urinary bladder disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "urinary bladder disorder" EXACT [NCIT:C2900]
xref: DOID:365 {source="MONDO:equivalentTo", source="EFO:1000018"}
xref: EFO:1000018 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N32.9 {source="DOID:365"}
xref: ICD9:596.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:596.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:365"}
xref: MEDGEN:2278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001745 {source="MONDO:equivalentTo", source="DOID:365"}
xref: NCIT:C2900 {source="MONDO:equivalentTo", source="EFO:1000018", source="DOID:365"}
xref: SCTID:155886002 {source="DOID:365"}
xref: SCTID:155890000 {source="DOID:365"}
xref: SCTID:197897007 {source="DOID:365"}
xref: SCTID:266630005 {source="DOID:365"}
xref: SCTID:42643001 {source="MONDO:equivalentTo", source="DOID:365"}
xref: UMLS:C0005686 {source="MONDO:equivalentTo", source="MEDGEN:2278", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="DOID:365", source="MESH:D001745", source="MONDO:Redundant", source="NCIT:C2900"} ! urinary system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0006027
name: breast synovial sarcoma
def: "A synovial sarcoma (disease) that involves the breast." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "breast synovial sarcoma (disease)" EXACT [MONDO:patterns/location]
is_a: MONDO:0010434 {source="EFO:1000019", source="MONDO:Entailed", source="MONDO:Redundant"} ! synovial sarcoma
intersection_of: MONDO:0010434 ! synovial sarcoma
intersection_of: disease_has_location UBERON:0000310 ! breast
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0006028
name: cecum adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the caecum" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of cecum" EXACT [DOID:3039, NCIT:C5543]
synonym: "adenocarcinoma of the cecum" EXACT [NCIT:C5543]
synonym: "caecum adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "cecal adenocarcinoma" EXACT [DOID:3039, NCIT:C5543]
synonym: "cecum adenocarcinoma" EXACT [NCIT:C5543]
xref: DOID:3039 {source="EFO:1000020", source="MONDO:equivalentTo"}
xref: EFO:1000020 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5543 {source="EFO:1000020", source="MONDO:equivalentTo", source="DOID:3039", source="MONDO:exact-label-match"}
xref: SCTID:413446001 {source="EFO:1000020", source="MONDO:equivalentTo", source="DOID:3039"}
xref: UMLS:C1332866 {source="MEDGEN:234098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002271 {source="MONDO:Redundant", source="NCIT:C5543"} ! colon adenocarcinoma
is_a: MONDO:0006029 {source="DOID:3039", source="MONDO:Redundant", source="NCIT:C5543"} ! cecum carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0006029
name: cecum carcinoma
def: "A carcinoma that arises from epithelial cells of the caecum" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "caecum carcinoma" EXACT [DOID:1519, MONDO:patterns/location]
synonym: "carcinoma of caecum" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of cecum" EXACT [DOID:1519, NCIT:C3491]
synonym: "carcinoma of the cecum" EXACT [NCIT:C3491]
synonym: "cecal cancer" BROAD [DOID:1519, NCIT:C3491]
synonym: "cecum cancer" BROAD [NCIT:C3491]
synonym: "cecum carcinoma" EXACT [NCIT:C3491]
xref: DOID:1519 {source="EFO:1000021", source="MONDO:equivalentTo"}
xref: EFO:1000021 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:101762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3491 {source="EFO:1000021", source="MONDO:equivalentTo", source="DOID:1519"}
xref: SCTID:154459000 {source="DOID:1519"}
xref: SCTID:187756005 {source="DOID:1519"}
xref: SCTID:255081007 {source="MONDO:equivalentTo", source="DOID:1519"}
xref: SCTID:269538009 {source="DOID:1519"}
xref: UMLS:C0149640 {source="MONDO:equivalentTo", source="MEDGEN:101762", source="MONDO:MEDGEN"}
is_a: MONDO:0002032 {source="MONDO:Redundant", source="NCIT:C3491"} ! colon carcinoma
is_a: MONDO:0002033 {source="DOID:1519", source="MONDO:Redundant", source="NCIT:C3491"} ! cecum cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0006030
name: chronic cystitis
def: "Recurrent infections of the urinary bladder." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cystitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:1680 {source="EFO:1000023", source="MONDO:equivalentTo"}
xref: EFO:1000023 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N30.2 {source="DOID:1680"}
xref: ICD9:595.2 {source="DOID:1680", source="MONDO:relatedTo", source="EFO:1000023", source="MONDO:i2s"}
xref: MEDGEN:65146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27008 {source="EFO:1000023", source="MONDO:equivalentTo"}
xref: SCTID:197839008 {source="DOID:1680"}
xref: SCTID:197842002 {source="DOID:1680"}
xref: SCTID:198536006 {source="DOID:1680"}
xref: SCTID:33655002 {source="EFO:1000023", source="MONDO:equivalentTo"}
xref: UMLS:C0221763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65146"}
is_a: MONDO:0006032 {source="DOID:1680", source="EFO:1000023", source="MONDO:Redundant", source="NCIT:C27008"} ! cystitis
intersection_of: MONDO:0006032 ! cystitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0006031
name: chronic rhinosinusitis
def: "Chronic form of sinusitis." [MONDO:patterns/chronic]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic sinusitis" EXACT []
synonym: "sinusitis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: EFO:1000024 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:473.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:473.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35151 {source="MONDO:equivalentTo"}
xref: PMID:25838086 {source="EFO:1000024"}
xref: SCTID:40055000 {source="MONDO:equivalentTo"}
xref: UMLS:C0149516 {source="MONDO:equivalentTo", source="MEDGEN:101751", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="EFO:1000024"} ! respiratory system disorder
intersection_of: MONDO:0005961 ! sinusitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0006032
name: cystitis
def: "Inflammation of the urinary bladder." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder infection" EXACT [NCIT:C26738]
synonym: "inflammation of urinary bladder" EXACT []
synonym: "urinary bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:1679 {source="EFO:1000025", source="MONDO:equivalentTo"}
xref: EFO:1000025 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N30 {source="DOID:1679"}
xref: ICD10CM:N30.9 {source="DOID:1679"}
xref: ICD9:595 {source="EFO:1000025", source="DOID:1679"}
xref: ICD9:595.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:595.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1679"}
xref: MEDGEN:8227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003556 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679"}
xref: NCIT:C26738 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679"}
xref: SCTID:155882000 {source="DOID:1679"}
xref: SCTID:155885003 {source="DOID:1679"}
xref: SCTID:197857009 {source="DOID:1679"}
xref: SCTID:266629000 {source="DOID:1679"}
xref: SCTID:38822007 {source="EFO:1000025", source="MONDO:equivalentTo", source="DOID:1679"}
xref: UMLS:C0010692 {source="MEDGEN:8227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006026 {source="DOID:1679", source="EFO:1000025", source="MESH:D003556", source="MONDO:Redundant", source="NCIT:C26738/inferred"} ! urinary bladder disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0006033
name: diffuse intrinsic pontine glioma
def: "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." [NCIT:P378]
subset: gard_rare {source="GARD:13075", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:497188"}
subset: orphanet_rare {source="Orphanet:497188"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse midline glioma" RELATED [https://orcid.org/0000-0001-8688-2523, PMID:30800634]
synonym: "DIPG" EXACT ABBREVIATION [GARD:0013075, ONCOTREE:DIPG, Orphanet:497188]
synonym: "infiltrative brainstem glioma" RELATED [GARD:0013075]
xref: EFO:1000026 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13075 {source="MONDO:GARD"}
xref: MEDGEN:458884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000080443 {source="MONDO:equivalentTo"}
xref: NCIT:C94764 {source="MONDO:equivalentTo", source="EFO:1000026"}
xref: ONCOTREE:DIPG {source="MONDO:equivalentTo"}
xref: Orphanet:497188 {source="MONDO:equivalentTo"}
xref: UMLS:C2986658 {source="MEDGEN:458884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003869 {source="NCIT:C94764"} ! childhood brain stem glioma
is_a: MONDO:0005499 {source="EFO:1000026", source="MONDO:Redundant", source="MONDO:indirect"} ! brain glioma
relationship: disease_has_location UBERON:0000988 ! pons
relationship: excluded_subClassOf MONDO:0016680 {source="Orphanet:497188", source="https://orcid.org/0000-0001-5208-3432"} ! high grade astrocytic tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5432" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma" xsd:anyURI {source="GARD:0013075"}

[Term]
id: MONDO:0006034
name: gastric adenosquamous carcinoma
def: "A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation." [NCIT:C5474]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosquamous carcinoma of stomach" EXACT [DOID:5635, NCIT:C5474]
synonym: "adenosquamous carcinoma of the stomach" EXACT [NCIT:C5474]
synonym: "gastric (stomach) adenosquamous cancer" EXACT [NCIT:C5474]
synonym: "gastric adenosquamous carcinoma" EXACT [NCIT:C5474]
synonym: "STAS" RELATED ABBREVIATION [ONCOTREE:STAS]
synonym: "stomach adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5635 {source="MONDO:equivalentTo", source="EFO:1000029"}
xref: EFO:1000029 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5474 {source="MONDO:equivalentTo", source="DOID:5635", source="EFO:1000029", source="MONDO:exact-label-match"}
xref: ONCOTREE:STAS {source="MONDO:equivalentTo"}
xref: UMLS:C1333761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272661"}
is_a: MONDO:0004950 {source="DOID:5635/inferred", source="EFO:1000029", source="MONDO:Redundant", source="NCIT:C5474"} ! gastric carcinoma
is_a: MONDO:0006074 {source="DOID:5635", source="MONDO:Redundant", source="NCIT:C5474"} ! adenosquamous carcinoma
is_a: MONDO:0006230 {source="DOID:5635", source="MONDO:Entailed", source="MONDO:Redundant"} ! gastric squamous cell carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0006035
name: gastric tubular adenocarcinoma
def: "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." [NCIT:C5473]
subset: otar {source="MONDO:OTAR"}
synonym: "gastric tubular adenocarcinoma" EXACT [NCIT:C5473]
synonym: "stomach tubular adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "tubular adenocarcinoma of stomach" EXACT [DOID:6595, NCIT:C5473]
synonym: "tubular adenocarcinoma of the stomach" EXACT [NCIT:C5473]
synonym: "tubular stomach adenocarcinoma" RELATED [ONCOTREE:TSTAD]
xref: DOID:6595 {source="EFO:1000030", source="MONDO:equivalentTo"}
xref: EFO:1000030 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5473 {source="EFO:1000030", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6595"}
xref: ONCOTREE:TSTAD {source="MONDO:equivalentTo"}
xref: UMLS:C1333791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234303"}
is_a: MONDO:0005036 {source="DOID:6595", source="EFO:1000030", source="MONDO:Redundant", source="NCIT:C5473/inferred", source="ONCOTREE:TSTAD"} ! gastric adenocarcinoma
is_a: MONDO:0005606 {source="DOID:6595", source="EFO:1000030", source="MONDO:Redundant", source="NCIT:C5473"} ! tubular adenocarcinoma
intersection_of: MONDO:0005606 ! tubular adenocarcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0006036
name: granulosa cell tumor
def: "A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." [NCIT:C3070]
subset: otar {source="MONDO:OTAR"}
synonym: "granulosa cell neoplasm" EXACT [DOID:2999, NCIT:C3070]
synonym: "granulosa cell neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "granulosa cell tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3070]
synonym: "granulosa cell tumor, adult type" EXACT [DOID:2999]
synonym: "granulosa cell tumor, adult type (morphologic abnormality)" EXACT [DOID:2999]
synonym: "granulosa cell tumor, sarcomatoid" EXACT [DOID:2999]
synonym: "granulosa cell tumor, undetermined" RELATED [NCIT:C3070]
synonym: "GRCT" RELATED ABBREVIATION [ONCOTREE:GRCT]
synonym: "malignant granulosa cell neoplasm" RELATED EXCLUDE [DOID:2999]
synonym: "neoplasm of granulosa cell" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of granulosa cell" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of granulosa cell" EXACT OMO:0003005 []
xref: DOID:2999 {source="EFO:1000032", source="MONDO:equivalentTo"}
xref: EFO:1000032 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006106 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999"}
xref: NCIT:C3070 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999", source="NCIT:C3070"}
xref: NCIT:C4205 {source="DOID:2999"}
xref: ONCOTREE:GRCT {source="MONDO:equivalentTo"}
xref: SCTID:18861007 {source="DOID:2999"}
xref: SCTID:189734000 {source="DOID:2999"}
xref: SCTID:46585005 {source="EFO:1000032", source="DOID:2999"}
xref: UMLS:C0018206 {source="MEDGEN:6676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C3070/inferred"} ! endocrine gland neoplasm
is_a: MONDO:0006055 {source="DOID:2999", source="EFO:1000032", source="NCIT:C3070"} ! sex cord-stromal tumor
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location CL:0000501 ! granulosa cell

[Term]
id: MONDO:0006037
name: hydrolethalus syndrome
def: "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." [Orphanet:2189]
subset: gard_rare {source="GARD:6683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2189"}
subset: ordo_malformation_syndrome {source="Orphanet:2189"}
subset: orphanet_rare {source="Orphanet:2189"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLS" RELATED ABBREVIATION [GARD:0006683]
synonym: "hydrolethalus" RELATED [Orphanet:2189]
synonym: "Salonen-Herva-Norio syndrome" EXACT [DOID:0050779]
xref: DOID:0050779 {source="EFO:1000033", source="MONDO:equivalentTo"}
xref: GARD:6683 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2189/attributed", source="Orphanet:2189/ntbt", source="Orphanet:2189", source="EFO:1000033", source="DOID:0050779"}
xref: MEDGEN:419335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536079 {source="Orphanet:2189", source="MONDO:equivalentTo", source="Orphanet:2189/e"}
xref: OMIMPS:236680 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2189 {source="MONDO:equivalentTo", source="DOID:0050779"}
xref: SCTID:721232000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419335"}
is_a: MONDO:0006025 {source="DOID:0050779", source="EFO:1000033", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="Orphanet:2189"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:236680"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome" xsd:anyURI {source="GARD:0006683"}

[Term]
id: MONDO:0006038
name: indeterminate colitis
def: "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." [EFO:1000034]
subset: otar {source="MONDO:OTAR"}
synonym: "colitis of indeterminate type" EXACT [NCIT:C27110]
xref: EFO:1000034 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K52.3 {source="MONDO:equivalentTo"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27110 {source="EFO:1000034", source="MONDO:equivalentTo"}
xref: SCTID:235746007 {source="EFO:1000034", source="MONDO:equivalentTo"}
xref: UMLS:C0341332 {source="MEDGEN:87418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="EFO:1000034", source="NCIT:C27110"} ! inflammatory bowel disease
is_a: MONDO:0005292 {source="https://orcid.org/0000-0002-6601-2165"} ! colitis

[Term]
id: MONDO:0006039
name: infectious colitis
def: "A viral or bacterial infectious process affecting the large intestine." [NCIT:C78359]
subset: otar {source="MONDO:OTAR"}
synonym: "infectious colitis" EXACT [NCIT:C78359]
xref: EFO:1000035 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:75798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78359 {source="MONDO:equivalentTo", source="EFO:1000035"}
xref: SCTID:39341005 {source="MONDO:equivalentTo", source="EFO:1000035"}
xref: UMLS:C0277524 {source="MEDGEN:75798", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005292 {source="EFO:1000035", source="MONDO:Redundant", source="NCIT:C78359"} ! colitis
is_a: MONDO:0005550 {source="https://orcid.org/0000-0002-6601-2165"} ! infectious disease
intersection_of: MONDO:0005550 {source="EFO:0000784"} ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0001155 {source="EFO:0000784"} ! colon

[Term]
id: MONDO:0006040
name: lactic acidosis
def: "Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000036 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000140 {source="MONDO:equivalentTo"}
xref: NCIT:C98969 {source="DOID:3650", source="EFO:1000036", source="MONDO:otherHierarchy"}
xref: SCTID:91273001 {source="MONDO:equivalentTo"}
xref: UMLS:C0001125 {source="MEDGEN:1717", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_feature HP:0003128 ! Lactic acidosis

[Term]
id: MONDO:0006041
name: lung carcinoid tumor
def: "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis." [NCIT:C4038]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid tumor (disease) of lung" EXACT []
synonym: "carcinoid tumor of lung" EXACT [NCIT:C4038]
synonym: "carcinoid tumor of the lung" EXACT [NCIT:C4038]
synonym: "carcinoid tumour (disease) of lung" EXACT OMO:0003005 []
synonym: "carcinoid tumour of lung" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the lung" EXACT OMO:0003005 []
synonym: "lung carcinoid" RELATED [ONCOTREE:LUCA]
synonym: "lung carcinoid tumor" EXACT [NCIT:C4038]
synonym: "lung carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "lung carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "pulmonary carcinoid tumor" EXACT [NCIT:C4038]
synonym: "pulmonary carcinoid tumour" EXACT OMO:0003005 []
xref: EFO:1000037 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4038 {source="MONDO:equivalentTo", source="EFO:1000037", source="MONDO:exact-label-match"}
xref: ONCOTREE:LUCA {source="MONDO:equivalentTo"}
xref: SCTID:254627002 {source="MONDO:equivalentTo"}
xref: UMLS:C0280089 {source="MEDGEN:79070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000037", source="MONDO:Redundant", source="NCIT:C4038/inferred"} ! neoplasm
is_a: MONDO:0005369 {source="MONDO:Redundant", source="NCIT:C4038/inferred"} ! carcinoid tumor
is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C4038", source="ONCOTREE:LUCA"} ! lung neuroendocrine neoplasm
intersection_of: MONDO:0005369 ! carcinoid tumor
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0006042
name: meningeal tuberculosis
def: "A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis." [NCIT:P378]
subset: gard_rare {source="GARD:7828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1437"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Meningitis, Tuberculous" EXACT [NORD:1437]
synonym: "TB meningitis" EXACT [GARD:0007828]
synonym: "TBM" EXACT ABBREVIATION [Orphanet:499004]
synonym: "tubercular meningitis" EXACT [Orphanet:499004]
synonym: "tuberculous meningitis" EXACT [MONDO:0044684]
xref: EFO:1000039 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7828 {source="MONDO:GARD"}
xref: MEDGEN:21725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014390 {source="MONDO:equivalentTo"}
xref: NCIT:C84888 {source="MONDO:equivalentTo", source="EFO:1000039"}
xref: NORD:1437 {source="MONDO:NORD"}
xref: Orphanet:499004 {source="MONDO:equivalentTo"}
xref: SCTID:58437007 {source="MONDO:equivalentTo"}
xref: UMLS:C0041318 {source="MEDGEN:21725", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004796 {source="MESH:D014390/inferred", source="NCIT:C84888"} ! infectious meningitis
is_a: MONDO:0005113 {source="Orphanet:499004"} ! bacterial infectious disease
is_a: MONDO:0018076 {source="EFO:1000039", source="MESH:D014390/inferred", source="MONDO:Redundant", source="NCIT:C84888"} ! tuberculosis
is_a: MONDO:0020010 {source="Orphanet:499004"} ! infectious disorder of the nervous system
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: MONDO:0021108 ! meningitis
intersection_of: disease_has_inflammation_site UBERON:0002360 ! meninx
intersection_of: disease_has_inflammation_site UBERON:0003889 ! fallopian tube
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4239" xsd:anyURI

[Term]
id: MONDO:0006043
name: metaplastic breast carcinoma
def: "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." [NCIT:C5164]
subset: gard_rare {source="GARD:10804", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213531"}
subset: orphanet_rare {source="Orphanet:213531"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast metaplastic carcinoma" RELATED [DOID:4680]
synonym: "metaplastic breast cancer" RELATED [GARD:0010804]
synonym: "metaplastic breast carcinoma" EXACT [NCIT:C5164]
synonym: "metaplastic carcinoma of breast" EXACT [DOID:4680, NCIT:C5164]
synonym: "metaplastic carcinoma of the breast" EXACT [DOID:4680, NCIT:C5164]
xref: DOID:4680 {source="EFO:1000040", source="MONDO:equivalentTo"}
xref: EFO:1000040 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10804 {source="MONDO:GARD"}
xref: ICD10CM:C50.0 {source="Orphanet:213531", source="Orphanet:213531/btnt"}
xref: ICD10CM:C50.1 {source="Orphanet:213531", source="Orphanet:213531/btnt"}
xref: ICD10CM:C50.2 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"}
xref: ICD10CM:C50.3 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"}
xref: ICD10CM:C50.4 {source="Orphanet:213531", source="Orphanet:213531/btnt"}
xref: ICD10CM:C50.5 {source="Orphanet:213531", source="Orphanet:213531/btnt"}
xref: ICD10CM:C50.6 {source="Orphanet:213531", source="MONDO:relatedTo", source="Orphanet:213531/btnt"}
xref: ICD10CM:C50.8 {source="Orphanet:213531", source="Orphanet:213531/btnt"}
xref: MEDGEN:277360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5164 {source="EFO:1000040", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4680"}
xref: ONCOTREE:MBC {source="MONDO:equivalentTo"}
xref: Orphanet:213531 {source="MONDO:equivalentTo"}
xref: SCTID:763479005 {source="MONDO:equivalentTo"}
xref: UMLS:C1334708 {source="MEDGEN:277360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004989 {source="DOID:4680", source="EFO:1000040", source="MONDO:Redundant", source="NCIT:C5164/inferred"} ! breast carcinoma
is_a: MONDO:0006256 {source="NCIT:C5164"} ! invasive breast carcinoma

[Term]
id: MONDO:0006044
name: nephrosclerosis
def: "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." [MESH:D009400]
subset: otar {source="MONDO:OTAR"}
synonym: "renal sclerosis" EXACT [DOID:11664]
xref: DOID:11664 {source="EFO:1000041", source="MONDO:equivalentTo"}
xref: EFO:1000041 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I12 {source="DOID:11664"}
xref: ICD10CM:N26.9 {source="DOID:11664"}
xref: ICD9:587 {source="EFO:1000041", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11664"}
xref: MEDGEN:14330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009400 {source="EFO:1000041", source="MONDO:equivalentTo", source="DOID:11664"}
xref: SCTID:194773000 {source="DOID:11664"}
xref: SCTID:197658002 {source="DOID:11664"}
xref: SCTID:197662008 {source="DOID:11664"}
xref: SCTID:32916005 {source="EFO:1000041", source="MONDO:equivalentTo", source="DOID:11664"}
xref: UMLS:C0027719 {source="MONDO:equivalentTo", source="MEDGEN:14330", source="MONDO:MEDGEN"}
is_a: MONDO:0002286 ! renal artery disease
is_a: MONDO:0005240 {source="DOID:11664/inferred", source="MESH:D009400"} ! kidney disorder
relationship: excluded_subClassOf MONDO:0001105 {source="DOID:11664", source="https://orcid.org/0000-0001-5208-3432"} ! renal hypertension
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis" xsd:anyURI {source="GARD:0007179"}

[Term]
id: MONDO:0006045
name: ovarian clear cell adenocarcinoma
def: "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." [NCIT:C40078]
subset: gard_rare {source="GARD:21652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398971"}
subset: orphanet_rare {source="Orphanet:398971"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "clear cell adenocarcinoma of ovary" EXACT [MONDO:0018367]
synonym: "clear cell adenocarcinoma of the ovary" RELATED [Orphanet:398971]
synonym: "ovarian clear cell adenocarcinoma" EXACT [NCIT:C40078, Orphanet:398971]
synonym: "ovary clear cell adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5304 {source="EFO:1000042", source="MONDO:equivalentTo"}
xref: EFO:1000042 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21652 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:398971", source="Orphanet:398971/ntbt"}
xref: icd11.foundation:315825558 {source="Orphanet:398971", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:276659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40078 {source="EFO:1000042", source="DOID:5304", source="MONDO:equivalentTo"}
xref: Orphanet:398971 {source="MONDO:equivalentTo"}
xref: SCTID:763131005 {source="MONDO:equivalentTo"}
xref: UMLS:C1518693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276659"}
is_a: MONDO:0000548 {source="NCIT:C40078"} ! ovarian clear cell cancer
is_a: MONDO:0002752 {source="DOID:5304", source="EFO:1000042", source="MONDO:Redundant", source="NCIT:C40078"} ! ovarian adenocarcinoma
is_a: MONDO:0005004 {source="EFO:1000042", source="MONDO:Redundant", source="NCIT:C40078"} ! clear cell adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006046
name: ovarian serous cystadenocarcinoma
def: "A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features." [NCIT:C7978]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovarian serous cystadenocarcinoma" EXACT [NCIT:C7978]
synonym: "serous cystadenoma" RELATED EXCLUDE [DOID:5746]
xref: DOID:5746 {source="EFO:1000043", source="MONDO:equivalentTo"}
xref: EFO:1000043 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7978 {source="EFO:1000043", source="DOID:5746", source="MONDO:equivalentTo"}
xref: UMLS:C0279663 {source="MEDGEN:83541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002702 {source="DOID:5746", source="MONDO:Redundant", source="NCIT:C7978"} ! ovarian cystadenocarcinoma
is_a: MONDO:0005211 {source="DOID:5746", source="EFO:1000043", source="MONDO:Redundant", source="NCIT:C7978"} ! ovarian serous adenocarcinoma
is_a: MONDO:0024621 {source="MONDO:Redundant", source="NCIT:C7978"} ! serous cystadenocarcinoma
intersection_of: MONDO:0024621 ! serous cystadenocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006047
name: pancreatic adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the pancreas" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma - pancreas" EXACT [NCIT:C8294]
synonym: "adenocarcinoma of pancreas" EXACT [NCIT:C8294]
synonym: "adenocarcinoma of the pancreas" EXACT [DOID:4074, NCIT:C8294]
synonym: "PAAD" RELATED ABBREVIATION [ONCOTREE:PAAD]
synonym: "pancreas adenocarcinoma" EXACT [DOID:4074, MONDO:patterns/location, NCIT:C8294]
synonym: "pancreatic adenocarcinoma" EXACT [NCIT:C8294]
xref: DOID:4074 {source="EFO:1000044", source="MONDO:equivalentTo"}
xref: EFO:1000044 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8294 {source="EFO:1000044", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4074"}
xref: ONCOTREE:PAAD {source="MONDO:equivalentTo"}
xref: SCTID:700423003 {source="EFO:1000044", source="MONDO:equivalentTo", source="DOID:4074"}
xref: UMLS:C0281361 {source="MONDO:equivalentTo", source="MEDGEN:83800", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="DOID:4074", source="MONDO:Redundant", source="NCIT:C8294"} ! adenocarcinoma
is_a: MONDO:0005192 {source="DOID:4074", source="EFO:1000044", source="NCIT:C8294"} ! exocrine pancreatic carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0006048
name: obsolete pancreatic neuroendocrine tumor
is_obsolete: true
replaced_by: MONDO:0019954

[Term]
id: MONDO:0006049
name: papillary lung adenocarcinoma
def: "A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures." [NCIT:C5650]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung papillary adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "lung papillary-adenocarcinoma" EXACT [NCIT:C5650]
synonym: "papillary adenocarcinoma of lung" EXACT [NCIT:C5650]
synonym: "papillary adenocarcinoma of the lung" EXACT [DOID:5588, NCIT:C5650]
synonym: "papillary lung adenocarcinoma" EXACT [NCIT:C5650]
xref: DOID:5588 {source="MONDO:equivalentTo", source="EFO:1000046"}
xref: EFO:1000046 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:277495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5650 {source="DOID:5588", source="MONDO:equivalentTo", source="EFO:1000046", source="MONDO:exact-label-match"}
xref: SCTID:707411007 {source="MONDO:equivalentTo"}
xref: UMLS:C1335325 {source="MEDGEN:277495", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002512 {source="DOID:5588", source="MONDO:Redundant", source="NCIT:C5650"} ! papillary adenocarcinoma
is_a: MONDO:0005061 {source="DOID:5588", source="EFO:1000046", source="MONDO:Redundant", source="NCIT:C5650"} ! lung adenocarcinoma
intersection_of: MONDO:0002512 ! papillary adenocarcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0006050
name: pleomorphic breast carcinoma
def: "A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "anaplastic breast carcinoma" EXACT [NCIT:C5161]
xref: EFO:1000047 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:307976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5161 {source="EFO:1000047", source="MONDO:equivalentTo"}
xref: UMLS:C1514169 {source="MEDGEN:307976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004953 {source="EFO:1000047", source="NCIT:C5161"} ! invasive ductal breast carcinoma

[Term]
id: MONDO:0006051
name: obsolete postweaning multisystemic wasting syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5294" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0025506

[Term]
id: MONDO:0006052
name: pulmonary tuberculosis
def: "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung TB" EXACT [NCIT:C26899]
synonym: "lung tuberculosis" EXACT [NCIT:C26899]
synonym: "pulmonary TB" EXACT [NCIT:C26899]
xref: DOID:2957 {source="MONDO:equivalentTo", source="EFO:1000049"}
xref: EFO:1000049 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A15 {source="DOID:2957"}
xref: ICD10CM:A15.0 {source="DOID:2957"}
xref: ICD9:011 {source="EFO:1000049", source="DOID:2957"}
xref: ICD9:011.16 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.85 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.86 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.9 {source="DOID:2957"}
xref: ICD9:011.90 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2957"}
xref: ICD9:011.92 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:011.96 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014397 {source="MONDO:equivalentTo", source="EFO:1000049", source="DOID:2957"}
xref: NCIT:C26899 {source="MONDO:equivalentTo", source="EFO:1000049", source="DOID:2957"}
xref: SCTID:154283005 {source="MONDO:equivalentTo", source="EFO:1000049", source="DOID:2957"}
xref: SCTID:186180006 {source="DOID:2957"}
xref: SCTID:397190009 {source="DOID:2957"}
xref: SCTID:700272008 {source="DOID:2957"}
xref: SCTID:81483001 {source="DOID:2957"}
xref: UMLS:C0041327 {source="MEDGEN:11947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:3389"} ! respiratory system disorder
is_a: MONDO:0018076 {source="DOID:2957", source="EFO:1000049", source="MESH:D014397", source="NCIT:C26899"} ! tuberculosis
relationship: disease_has_feature HP:0002202 ! Pleural effusion

[Term]
id: MONDO:0006053
name: renal leiomyoma
def: "A leiomyoma that involves the kidney." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "kidney leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "leiomyoma of kidney" EXACT [MONDO:design_pattern]
xref: EFO:1000050 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1691847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C159209 {source="MONDO:equivalentTo"}
xref: UMLS:C5204259 {source="MEDGEN:1691847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000050", source="MONDO:indirect"} ! neoplasm
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0006054
name: reproductive system neoplasm
def: "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system." [NCIT:C3674]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3674]
synonym: "neoplasm of the reproductive system" EXACT [NCIT:C3674]
synonym: "reproductive neoplasm" EXACT [NCIT:C3674]
synonym: "reproductive system neoplasm" EXACT [NCIT:C3674]
synonym: "reproductive system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "reproductive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3674]
synonym: "reproductive system tumour" EXACT OMO:0003005 []
synonym: "reproductive tumor" EXACT [NCIT:C3674]
synonym: "reproductive tumour" EXACT OMO:0003005 []
synonym: "tumor of reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3674]
synonym: "tumor of the reproductive system" EXACT [NCIT:C3674]
synonym: "tumour of reproductive system" EXACT OMO:0003005 []
synonym: "tumour of the reproductive system" EXACT OMO:0003005 []
xref: EFO:1000051 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:64246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3674 {source="EFO:1000051", source="MONDO:equivalentTo"}
xref: UMLS:C0178830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64246"}
is_a: MONDO:0005039 {source="MONDO:Redundant", source="NCIT:C3674"} ! reproductive system disorder
is_a: MONDO:0005070 {source="EFO:1000051", source="MONDO:Entailed", source="NCIT:C3674/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000990 ! reproductive system

[Term]
id: MONDO:0006055
name: sex cord-stromal tumor
def: "A neoplasm involving a sex cord." [MONDO:patterns/neoplasm]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant testicular sex cord-stromal tumor" NARROW [DOID:192]
synonym: "malignant testicular sex cord-stromal tumour" NARROW OMO:0003005 []
synonym: "neoplasm of sex cord" EXACT [MONDO:patterns/neoplasm]
synonym: "sex cord neoplasm" EXACT []
synonym: "Sex cord stromal tumor" EXACT [DOID:192]
synonym: "Sex cord stromal tumour" EXACT OMO:0003005 []
synonym: "sex cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3794]
synonym: "sex cord tumour" EXACT OMO:0003005 []
synonym: "sex cord-gonadal stromal tumor" EXACT [NCIT:C3794]
synonym: "sex cord-gonadal stromal tumour" EXACT OMO:0003005 []
synonym: "Sex cord-stromal neoplasm" EXACT [DOID:192, NCIT:C3794]
synonym: "Sex cord-stromal tumor" EXACT [DOID:192, MTH:NOCODE, NCIT:C3794]
synonym: "sex cord-stromal tumor" EXACT [MONDO:0005958, NCIT:C3794]
synonym: "Sex cord-stromal tumor, no ICD-O subtype" EXACT [DOID:192]
synonym: "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:192]
synonym: "Sex cord-stromal tumour" EXACT OMO:0003005 []
synonym: "specialised gonadal neoplasm" EXACT OMO:0003005 []
synonym: "specialised gonadal neoplasm (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "specialised gonadal neoplasm NOS (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "specialised gonadal tumour" EXACT OMO:0003005 []
synonym: "specialised gonadal tumour (qualifier value)" EXACT OMO:0003005 []
synonym: "specialized gonadal neoplasm" EXACT [DOID:192]
synonym: "specialized gonadal neoplasm (morphologic abnormality)" EXACT [DOID:192]
synonym: "specialized gonadal neoplasm NOS (morphologic abnormality)" EXACT [DOID:192]
synonym: "specialized gonadal tumor" EXACT [DOID:192]
synonym: "specialized gonadal tumor (qualifier value)" EXACT [DOID:192]
synonym: "tumor of sex cord" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of sex cord" EXACT OMO:0003005 []
xref: DOID:192 {source="MONDO:equivalentTo", source="EFO:0007483"}
xref: EFO:1000052 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8590/1 {source="NCIT:C3794"}
xref: MEDGEN:104926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018312 {source="DOID:192", source="EFO:0007483"}
xref: NANDO:2200072 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3794 {source="EFO:1000052", source="DOID:192", source="MONDO:equivalentTo"}
xref: NCIT:C39948 {source="DOID:192"}
xref: SCTID:115221000 {source="DOID:192"}
xref: SCTID:134323003 {source="DOID:192"}
xref: SCTID:189724009 {source="DOID:192"}
xref: SCTID:189741006 {source="DOID:192"}
xref: SCTID:253028001 {source="DOID:192"}
xref: SCTID:71440001 {source="EFO:1000052", source="DOID:192"}
xref: UMLS:C0206724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104926"}
is_a: MONDO:0005070 {source="DOID:192/inferred", source="EFO:0007483/inferred", source="EFO:1000052/inferred", source="MONDO:Redundant", source="NCIT:C3794/inferred"} ! neoplasm
is_a: MONDO:0006054 {source="EFO:1000052", source="MONDO:Entailed", source="NCIT:C3794/inferred"} ! reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0005295 ! sex cord

[Term]
id: MONDO:0006056
name: squamous cell breast carcinoma
def: "A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells." [NCIT:C5177]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast primary squamous cell carcinoma" EXACT [DOID:5514]
synonym: "breast squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "metaplastic squamous cell carcinoma" RELATED [ONCOTREE:MSCC]
synonym: "primary squamous cell breast carcinoma" EXACT [NCIT:C5177]
synonym: "primary squamous cell carcinoma of breast" EXACT [DOID:5514, NCIT:C5177]
synonym: "primary squamous cell carcinoma of the breast" EXACT [DOID:5514, NCIT:C5177, NCIT:C5179]
synonym: "scc of breast" EXACT [DOID:5514, NCIT:C5177]
synonym: "scc of the breast" EXACT [NCIT:C5177]
synonym: "squamous breast carcinoma" EXACT [NCIT:C5177]
synonym: "squamous carcinoma of breast" EXACT [NCIT:C5177]
synonym: "squamous carcinoma of the breast" EXACT [NCIT:C5177]
synonym: "squamous cell breast carcinoma" EXACT [NCIT:C5177]
synonym: "squamous cell carcinoma of breast" EXACT [DOID:5514, NCIT:C5177]
synonym: "squamous cell carcinoma of the breast" EXACT [NCIT:C5177]
xref: DOID:5514 {source="EFO:1000053", source="MONDO:equivalentTo"}
xref: EFO:1000053 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5177 {source="EFO:1000053", source="MONDO:equivalentTo", source="DOID:5514", source="MONDO:exact-label-match"}
xref: ONCOTREE:MSCC {source="MONDO:equivalentTo"}
xref: UMLS:C1336079 {source="MONDO:equivalentTo", source="MEDGEN:233465", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="DOID:5514", source="EFO:1000053", source="MONDO:Redundant", source="NCIT:C5177"} ! squamous cell carcinoma
is_a: MONDO:0006043 {source="DOID:5514", source="ONCOTREE:MSCC/inferred"} ! metaplastic breast carcinoma
is_a: MONDO:0006256 {source="MONDO:Redundant", source="NCIT:C5177"} ! invasive breast carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0006057
name: obsolete thymic lymphoma
is_obsolete: true
replaced_by: MONDO:0000951

[Term]
id: MONDO:0006058
name: Wilms tumor
def: "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." [NCIT:C3267]
subset: otar {source="MONDO:OTAR"}
synonym: "Wilms tumor" EXACT [MONDO:0021044, NCIT:C3267]
synonym: "Wilms tumor (nephroblastoma)" NARROW [NCIT:C3267]
synonym: "Wilms tumour (nephroblastoma)" NARROW OMO:0003005 []
synonym: "Wilms' tumor" EXACT [NCIT:C3267]
synonym: "Wilms' tumour" EXACT OMO:0003005 []
xref: MEDGEN:10221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009396 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:1000056", source="MONDO:equivalentTo"}
xref: NCIT:C3267 {source="EFO:1000056", source="MONDO:equivalentTo"}
xref: UMLS:C0027708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10221"}
is_a: MONDO:0005564 {source="EFO:1000056", source="NCIT:C3267"} ! embryonal neoplasm
is_a: MONDO:0005853 {source="NCIT:C3267"} ! malignant mixed neoplasm
relationship: disease_arises_from_structure CL:0000354 {source="NCIT:C3267"} ! blastemal cell
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0006059
name: nasal cavity squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." [NCIT:C8192]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nasal cavity squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8192]
synonym: "squamous cell carcinoma of nasal cavity" EXACT [DOID:5515, NCIT:C8192]
synonym: "squamous cell carcinoma of the nasal cavity" EXACT [DOID:5515, NCIT:C8192]
xref: DOID:5515 {source="MONDO:equivalentTo", source="EFO:1000057"}
xref: EFO:1000057 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8192 {source="DOID:5515", source="MONDO:equivalentTo", source="EFO:1000057", source="MONDO:exact-label-match"}
xref: UMLS:C0280333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79104"}
is_a: MONDO:0003212 {source="DOID:5515", source="MONDO:Redundant", source="NCIT:C8192"} ! nasal cavity carcinoma
is_a: MONDO:0010150 {source="EFO:1000057", source="MONDO:Redundant", source="NCIT:C8192/inferred"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0006060
name: nasopharyngeal squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the nasopharynx." [https://github.com/monarch-initiative/mondo/pull/1457]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:1000058 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538339 {source="MONDO:relatedTo", source="EFO:1000058"}
xref: NCIT:C167265 {source="MONDO:equivalentTo"}
xref: NCIT:C3871 {source="MONDO:relatedTo", source="EFO:1000058"}
xref: SCTID:449248000 {source="EFO:1000058"}
xref: UMLS:C0279698 {source="MEDGEN:76017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010150 {source="EFO:1000058"} ! head and neck squamous cell carcinoma

[Term]
id: MONDO:0006061
name: cervical artery dissection
def: "A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \"false lumen\" created by the new space within the wall of the artery." [EFO:1000059]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000059 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1709179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5396999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709179"}
is_a: MONDO:0005385 {source="EFO:1000059"} ! vascular disorder
relationship: disease_has_location UBERON:0012320 ! cervical artery

[Term]
id: MONDO:0006063
name: obsolete carbohydrate metabolic disorder
is_obsolete: true
replaced_by: MONDO:0019214

[Term]
id: MONDO:0006064
name: obsolete lactose intolerance
is_obsolete: true
replaced_by: MONDO:0009116

[Term]
id: MONDO:0006065
name: lactose intolerance adult type
def: "Adult onset lactose intolerance" [EFO:1000063]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult lactase deficiency" EXACT [OMIM:223100]
synonym: "disaccharide intolerance 3" EXACT [OMIM:223100]
synonym: "hypolactasia, adult type" EXACT [OMIM:223100]
synonym: "lactase persistence/nonpersistence" EXACT [OMIM:223100, OMIM:genemap2]
synonym: "lactose intolerance, ADULT type" EXACT [OMIM:223100]
xref: EFO:1000063 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:75659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:223100 {source="MONDO:equivalentTo"}
xref: Orphanet:319681 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0268181 {source="MEDGEN:75659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100345 {source="EFO:1000063"} ! lactose intolerance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0006066
name: acinar prostate adenocarcinoma, foamy gland variant
def: "A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000064 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1835068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39882 {source="EFO:1000064", source="MONDO:equivalentTo"}
xref: UMLS:C5787290 {source="MEDGEN:1835068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004965 {source="EFO:1000064", source="MONDO:0006066/inferred", source="NCIT:C39882/inferred"} ! acinar cell carcinoma
is_a: MONDO:0005082 {source="EFO:1000064", source="MONDO:0006066/inferred", source="NCIT:C39882/inferred"} ! prostate adenocarcinoma

[Term]
id: MONDO:0006067
name: acinar prostate mucinous adenocarcinoma
def: "A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin." [NCIT:C5537]
subset: otar {source="MONDO:OTAR"}
synonym: "acinar colloid prostate adenocarcinoma" EXACT [DOID:3703, NCIT:C5537]
synonym: "colloid adenocarcinoma of prostate" EXACT [NCIT:C5537]
synonym: "colloid adenocarcinoma of the prostate" EXACT [NCIT:C5537]
synonym: "colloidal adenocarcinoma of prostate" EXACT [NCIT:C5537]
synonym: "colloidal adenocarcinoma of the prostate" EXACT [NCIT:C5537]
synonym: "colloidal prostate adenocarcinoma" EXACT [NCIT:C5537]
synonym: "mucinous adenocarcinoma of prostate" EXACT [NCIT:C5537]
synonym: "mucinous adenocarcinoma of the prostate" EXACT [NCIT:C5537]
synonym: "prostate colloid adenocarcinoma" EXACT [MONDO:0002743]
xref: DOID:3703 {source="MONDO:equivalentTo"}
xref: EFO:1000065 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5537 {source="EFO:1000065", source="MONDO:equivalentTo", source="DOID:3703"}
xref: UMLS:C1335513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277536"}
is_a: MONDO:0004957 {source="EFO:1000065", source="NCIT:C5537"} ! mucinous adenocarcinoma
is_a: MONDO:0004965 {source="EFO:1000065", source="MONDO:Entailed", source="NCIT:C5537/inferred"} ! acinar cell carcinoma
is_a: MONDO:0005082 {source="DOID:3703", source="EFO:1000065", source="NCIT:C5537/inferred"} ! prostate adenocarcinoma
relationship: disease_has_location CL:0000622 {source="EFO:0000784"} ! acinar cell

[Term]
id: MONDO:0006068
name: ACTH-producing pituitary gland adenoma
def: "An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTH producing pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "ACTH secreting adenoma of pituitary" EXACT [NCIT:C7462]
synonym: "ACTH secreting adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "ACTH-producing pituitary adenoma" EXACT [NCIT:C7462]
synonym: "ACTH-producing pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "ACTH-secreting adenoma of pituitary" EXACT [NCIT:C7462]
synonym: "ACTH-secreting adenoma of pituitary gland" EXACT [NCIT:C7462]
synonym: "ACTH-secreting adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "ACTH-secreting adenoma of the pituitary gland" EXACT [NCIT:C7462]
synonym: "ACTHoma" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing adenoma of pituitary" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing adenoma of pituitary gland" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing adenoma of the pituitary gland" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing pituitary adenoma" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin producing pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting adenoma of pituitary" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting adenoma of pituitary gland" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting adenoma of the pituitary gland" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting pituitary adenoma" EXACT [NCIT:C7462]
synonym: "adrenocorticotropin secreting pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "corticotroph adenoma" EXACT [NCIT:C7462]
synonym: "corticotropic adenoma" EXACT [NCIT:C7462]
synonym: "corticotropin secreting adenoma of the pituitary" EXACT [NCIT:C7462]
synonym: "corticotropin secreting pituitary gland adenoma" EXACT [NCIT:C7462]
synonym: "Corticotropinoma" EXACT [NCIT:C7462]
synonym: "pituitary ACTH secreting adenoma" EXACT [NCIT:C7462]
synonym: "pituitary ACTH-secreting adenoma" EXACT [NCIT:C7462]
synonym: "pituitary corticotropin secreting adenoma" EXACT [NCIT:C7462]
synonym: "pituitary gland ACTH-secreting adenoma" EXACT [NCIT:C7462]
xref: EFO:1000066 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:266291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7462 {source="EFO:1000066", source="MONDO:equivalentTo"}
xref: UMLS:C1306214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266291"}
is_a: MONDO:0004972 {source="EFO:1000066", source="MONDO:Redundant", source="NCIT:C7462/inferred"} ! adenoma
is_a: MONDO:0006373 {source="MONDO:Redundant", source="NCIT:C7462"} ! pituitary gland adenoma
is_a: MONDO:0045058 {source="MONDO:Redundant", source="NCIT:C7462"} ! ACTH-producing pituitary gland neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
intersection_of: realized_in GO:0051458 ! corticotropin secretion

[Term]
id: MONDO:0006069
name: ACTH-producing pituitary gland carcinoma
def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." [NCIT:C5964]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTH producing pituitary gland carcinoma" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing neoplasm of pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing neoplasm of pituitary gland" EXACT [MONDO:0003838]
synonym: "malignant ACTH producing neoplasm of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing neoplasm of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary gland neoplasm" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary gland tumor" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant ACTH producing pituitary neoplasm" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary tumor" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant ACTH producing tumor of pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing tumor of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing tumor of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing tumor of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant ACTH producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant ACTH producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant ACTH producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant ACTH secreting neoplasm of pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting neoplasm of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting neoplasm of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting neoplasm of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting pituitary gland tumor" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant ACTH secreting pituitary neoplasm" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting pituitary tumor" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant ACTH secreting tumor of pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting tumor of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting tumor of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting tumor of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant ACTH secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant ACTH secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant ACTH secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant ACTH secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant adrenocorticotropin producing neoplasm of pituitary" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing neoplasm of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing neoplasm of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing neoplasm of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary gland neoplasm" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant adrenocorticotropin producing pituitary neoplasm" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary tumor" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant adrenocorticotropin producing tumor of pituitary" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing tumor of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing tumor of the pituitary" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing tumor of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant adrenocorticotropin producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant adrenocorticotropin producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant adrenocorticotropin producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant adrenocorticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant adrenocorticotropin secreting pituitary neoplasm" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin secreting pituitary tumor" EXACT [NCIT:C5964]
synonym: "malignant adrenocorticotropin secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C5964]
synonym: "malignant Corticotropinoma of pituitary" EXACT [NCIT:C5964]
synonym: "malignant Corticotropinoma of pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant Corticotropinoma of the pituitary" EXACT [DOID:6276, NCIT:C5964]
synonym: "malignant Corticotropinoma of the pituitary gland" EXACT [NCIT:C5964]
synonym: "malignant pituitary Corticotropinoma" EXACT [NCIT:C5964]
synonym: "malignant pituitary gland Corticotropinoma" EXACT [NCIT:C5964]
xref: DOID:6276 {source="MONDO:equivalentTo"}
xref: EFO:1000067 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5964 {source="EFO:1000067", source="MONDO:equivalentTo", source="DOID:6276"}
xref: UMLS:C1334556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233657"}
is_a: MONDO:0004970 {source="EFO:1000067", source="MONDO:0006069/inferred", source="NCIT:C5964/inferred"} ! adenocarcinoma
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
intersection_of: realized_in GO:0051458 ! corticotropin secretion
relationship: disease_has_feature HP:0011043 ! Abnormal circulating adrenocorticotropin concentration
relationship: excluded_subClassOf MONDO:0003604 {source="DOID:6276", source="https://orcid.org/0000-0001-5208-3432"} ! functioning pituitary gland neoplasm

[Term]
id: MONDO:0006070
name: obsolete acute leukemia
is_obsolete: true
replaced_by: MONDO:0010643

[Term]
id: MONDO:0006071
name: adenofibroma
def: "A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." [NCIT:C8984]
subset: otar {source="MONDO:OTAR"}
synonym: "adenofibroma, benign" EXACT [NCIT:C8984]
synonym: "adenofibroma, no ICD-O subtype" EXACT [DOID:2683]
synonym: "adenofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:2683]
synonym: "benign mixed Muellerian tumor" EXACT [NCIT:C8984]
synonym: "benign mixed Muellerian tumour" EXACT OMO:0003005 []
synonym: "female reproductive system adenofibroma" EXACT [NCIT:C8984]
xref: DOID:2683 {source="MONDO:equivalentTo"}
xref: EFO:1000070 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9013/0 {source="NCIT:C8984"}
xref: MEDGEN:1325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000232 {source="DOID:2683", source="MONDO:equivalentTo"}
xref: NCIT:C8984 {source="DOID:2683", source="MONDO:equivalentTo", source="EFO:1000070"}
xref: SCTID:189823009 {source="DOID:2683"}
xref: SCTID:2962009 {source="DOID:2683"}
xref: UMLS:C0001422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1325"}
is_a: MONDO:0000624 {source="NCIT:C8984"} ! benign female reproductive system neoplasm
is_a: MONDO:0005167 {source="EFO:1000070"} ! fibroma

[Term]
id: MONDO:0006072
name: obsolete adenoid cystic breast carcinoma
def: "OBSOLETE. An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." [NCIT:C5130]
is_obsolete: true
replaced_by: MONDO:0003185

[Term]
id: MONDO:0006073
name: adenomatoid odontogenic tumor
def: "A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenomatoid odontogenic neoplasm" EXACT [NCIT:C4310]
xref: EFO:1000072 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9300/0 {source="NCIT:C4310"}
xref: MEDGEN:137782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538229 {source="MONDO:equivalentTo"}
xref: NCIT:C4310 {source="MONDO:equivalentTo", source="EFO:1000072"}
xref: UMLS:C0334565 {source="MEDGEN:137782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021445 {source="https://orcid.org/0000-0001-5208-3432"} ! benign neoplasm of oral cavity
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0005515 {source="EFO:1000072", source="https://orcid.org/0000-0001-5208-3432"} ! oral cavity cancer

[Term]
id: MONDO:0006074
name: adenosquamous carcinoma
def: "A carcinoma composed of malignant glandular cells and malignant squamous cells." [NCIT:C3727]
subset: otar {source="MONDO:OTAR"}
synonym: "adenosquamous carcinoma" EXACT [NCIT:C3727]
synonym: "adenosquamous carcinoma (morphologic abnormality)" EXACT [DOID:4830]
synonym: "adenosquamous cell carcinoma" EXACT [DOID:4830]
synonym: "carcinoma, adenosquamous, malignant" EXACT [NCIT:C3727]
synonym: "mixed adenocarcinoma and epidermoid carcinoma" EXACT [NCIT:C3727]
synonym: "mixed adenocarcinoma and epidermoid cell carcinoma" EXACT [NCIT:C3727]
synonym: "mixed adenocarcinoma and squamous carcinoma" EXACT [DOID:4830, NCIT:C3727]
synonym: "mixed adenocarcinoma and squamous cell carcinoma" EXACT [NCIT:C3727]
xref: DOID:4830 {source="MONDO:equivalentTo"}
xref: EFO:1000073 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8560/3 {source="NCIT:C3727"}
xref: MEDGEN:104901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018196 {source="DOID:4830", source="MONDO:equivalentTo"}
xref: NCIT:C3727 {source="EFO:1000073", source="DOID:4830", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:403902008 {source="DOID:4830", source="MONDO:equivalentTo"}
xref: SCTID:59367005 {source="DOID:4830"}
xref: UMLS:C0206623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104901"}
is_a: MONDO:0004993 {source="DOID:4830/inferred", source="EFO:1000073", source="MESH:D018196", source="MONDO:0006074/inferred", source="MONDO:Redundant", source="NCIT:C3727"} ! carcinoma
is_a: MONDO:0005096 {source="DOID:4830"} ! squamous cell carcinoma

[Term]
id: MONDO:0006075
name: adrenal gland myelolipoma
def: "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." [NCIT:C3736]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal gland myelolipoma" EXACT [NCIT:C3736]
synonym: "Myelolipoma" EXACT [NCIT:C3736]
synonym: "MYELOLIPOMA, benign" EXACT [NCIT:C3736]
xref: EFO:1000074 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8870/0 {source="NCIT:C3736"}
xref: MEDGEN:64623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018209 {source="MONDO:equivalentTo"}
xref: NCIT:C3736 {source="EFO:1000074", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:719049003 {source="MONDO:equivalentTo"}
xref: UMLS:C0206635 {source="MEDGEN:64623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm
is_a: MONDO:0005495 {source="MONDO:Redundant", source="NCIT:C3736"} ! adrenal gland disorder
is_a: MONDO:0021511 {source="MONDO:Redundant"} ! benign neoplasm of adrenal gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_arises_from_structure CL:0000136 ! adipocyte
intersection_of: disease_arises_from_structure UBERON:0034769 ! lymphomyeloid tissue
intersection_of: disease_has_location UBERON:0002369 ! adrenal gland

[Term]
id: MONDO:0006076
name: adrenal gland neuroblastoma
def: "A neuroblastoma arising from the adrenal gland." [NCIT:C4827]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal gland neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C4827]
synonym: "adrenal neuroblastoma" EXACT [MONDO:0003605, NCIT:C4827]
synonym: "neuroblastoma of adrenal" EXACT [NCIT:C4827]
synonym: "neuroblastoma of adrenal gland" EXACT [DOID:5718, NCIT:C4827]
synonym: "neuroblastoma of the adrenal" EXACT [NCIT:C4827]
synonym: "neuroblastoma of the adrenal gland" EXACT [NCIT:C4827]
xref: DOID:5718 {source="MONDO:equivalentTo"}
xref: EFO:1000075 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:154328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4827 {source="EFO:1000075", source="MONDO:equivalentTo", source="DOID:5718"}
xref: SCTID:281562007 {source="MONDO:equivalentTo", source="DOID:5718"}
xref: UMLS:C0559460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154328"}
is_a: MONDO:0003606 {source="NCIT:C4827"} ! adrenal medulla cancer
is_a: MONDO:0005072 {source="DOID:5718", source="EFO:1000075", source="MONDO:Entailed", source="NCIT:C4827/inferred"} ! neuroblastoma
intersection_of: MONDO:0005072 {source="NCIT:C4827"} ! neuroblastoma
intersection_of: disease_has_location UBERON:0002369 {source="NCIT:C4827"} ! adrenal gland
relationship: disease_arises_from_structure UBERON:0001236 {source="NCIT:C4827"} ! adrenal medulla

[Term]
id: MONDO:0006077
name: adrenal medullary hyperplasia
def: "A hyperplasia that involves the adrenal medulla." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "adrenal medulla hyperplasia" EXACT [MONDO:patterns/location]
xref: EFO:1000076 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:231356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35838 {source="EFO:1000076", source="MONDO:equivalentTo"}
xref: UMLS:C1332177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231356"}
is_a: MONDO:0005043 {source="EFO:1000076", source="MONDO:Redundant", source="NCIT:C35838/inferred"} ! hyperplasia
intersection_of: MONDO:0005043 ! hyperplasia
intersection_of: disease_has_location UBERON:0001236 ! adrenal medulla

[Term]
id: MONDO:0006078
name: AIDS-related primary central nervous system lymphoma
def: "A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIDS related lymphoma of primary central nervous system" EXACT [NCIT:C8284]
synonym: "AIDS related lymphoma of the primary central nervous system" EXACT [NCIT:C8284]
synonym: "AIDS related primary central nervous system lymphoma" EXACT [NCIT:C8284]
synonym: "AIDS related primary CNS lymphoma" EXACT [NCIT:C8284]
synonym: "AIDS-related lymphoma of primary central nervous system" EXACT [NCIT:C8284]
synonym: "AIDS-related lymphoma of the primary central nervous system" EXACT [NCIT:C8284]
synonym: "AIDS-related primary CNS lymphoma" EXACT [NCIT:C8284]
xref: EFO:1000077 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8284 {source="EFO:1000077", source="MONDO:equivalentTo"}
xref: UMLS:C0281241 {source="MONDO:equivalentTo", source="MEDGEN:79263", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="EFO:1000077", source="NCIT:C8284/inferred"} ! lymphoma
relationship: disease_arises_from_feature MONDO:0012268 ! AIDS

[Term]
id: MONDO:0006079
name: ameloblastic carcinoma
def: "A rare, cytologically malignant ameloblastoma that may metastasize." [NCIT:C7492]
subset: gard_rare {source="GARD:11855", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:763"}
subset: ordo_disorder {source="Orphanet:314422"}
subset: orphanet_rare {source="Orphanet:314422"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ameloblastic carcinoma" EXACT [NCIT:C7492]
synonym: "odontoma, ameloblastic, malignant" EXACT [NCIT:C7492]
xref: EFO:1000078 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:11855 {source="MONDO:GARD"}
xref: ICD10CM:C41.1 {source="Orphanet:314422", source="Orphanet:314422/ntbt"}
xref: MEDGEN:231088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7492 {source="EFO:1000078", source="MONDO:equivalentTo"}
xref: NORD:763 {source="MONDO:NORD"}
xref: Orphanet:314422 {source="MONDO:equivalentTo"}
xref: UMLS:C1314678 {source="MEDGEN:231088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C7492/inferred"} ! head and neck carcinoma
is_a: MONDO:0004993 {source="EFO:1000078", source="MONDO:Redundant", source="NCIT:C7492/inferred"} ! carcinoma
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C7492/inferred"} ! head and neck cancer
is_a: MONDO:0021192 {source="Orphanet:314422"} ! odontogenic neoplasm
relationship: disease_arises_from_structure CL:0000059 ! ameloblast
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017797"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma" xsd:anyURI {source="GARD:0011855"}

[Term]
id: MONDO:0006080
name: obsolete ampulla of vater carcinoma
is_obsolete: true
replaced_by: MONDO:0017590

[Term]
id: MONDO:0006081
name: anal melanoma
def: "A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor." [NCIT:C4639]
comment: Editor note: TODO relationship to mucosa
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anal malignant melanoma" EXACT [NCIT:C4639]
synonym: "anal melanoma" EXACT [DOID:14145, NCIT:C4639]
synonym: "anus melanoma" EXACT []
synonym: "anus melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "malignant anus melanoma" EXACT [MONDO:0001891]
synonym: "malignant melanoma of anus" EXACT [NCIT:C4639]
synonym: "malignant melanoma of the anus" EXACT [NCIT:C4639]
synonym: "melanoma (disease) of anus" EXACT []
synonym: "melanoma of anus" EXACT [NCIT:C4639]
synonym: "melanoma of the anus" EXACT [NCIT:C4639]
xref: DOID:14145 {source="MONDO:equivalentTo"}
xref: EFO:1000080 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4639 {source="ONCOTREE:ARMM", source="MONDO:equivalentTo", source="DOID:14145", source="MONDO:exact-label-match", source="EFO:1000080"}
xref: ONCOTREE:ARMM {source="MONDO:equivalentTo"}
xref: SCTID:276821000 {source="MONDO:equivalentTo", source="DOID:14145"}
xref: UMLS:C0349538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91151"}
is_a: MONDO:0001879 {source="DOID:14145", source="MONDO:Entailed", source="NCIT:C4639"} ! anus cancer
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001245 ! anus
relationship: excluded_subClassOf MONDO:0021118 {source="ONCOTREE:ARMM", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal neoplasm

[Term]
id: MONDO:0006082
name: anal squamous cell carcinoma
def: "A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." [NCIT:C9161]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anal squamous cell cancer" EXACT [NCIT:C9161]
synonym: "anal squamous cell carcinoma" EXACT [NCIT:C9161]
synonym: "ANSC" RELATED ABBREVIATION [ONCOTREE:ANSC]
synonym: "anus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "epidermoid anal carcinoma" EXACT [DOID:5525, NCIT:C9161]
synonym: "epidermoid carcinoma of anus" EXACT [NCIT:C9161]
synonym: "epidermoid carcinoma of the anus" EXACT [NCIT:C9161]
synonym: "squamous cell anal carcinoma" EXACT [NCIT:C9161]
synonym: "squamous cell carcinoma - anus" EXACT [NCIT:C9161]
synonym: "squamous cell carcinoma of anus" EXACT [NCIT:C9161]
synonym: "squamous cell carcinoma of the anus" EXACT [NCIT:C9161]
xref: DOID:5525 {source="MONDO:equivalentTo"}
xref: EFO:1000081 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:237257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9161 {source="MONDO:equivalentTo", source="DOID:5525", source="MONDO:exact-label-match", source="EFO:1000081"}
xref: ONCOTREE:ANSC {source="MONDO:equivalentTo"}
xref: SCTID:255084004 {source="DOID:5525"}
xref: UMLS:C1412036 {source="MEDGEN:237257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003199 {source="DOID:5525", source="MONDO:Redundant", source="NCIT:C9161"} ! anal carcinoma
is_a: MONDO:0005096 {source="EFO:1000081", source="MONDO:Redundant", source="NCIT:C9161"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0006083
name: obsolete anaplastic large cell lymphoma, ALK-negative
is_obsolete: true
replaced_by: MONDO:0017603

[Term]
id: MONDO:0006084
name: obsolete angioleiomyoma
is_obsolete: true
replaced_by: MONDO:0006646

[Term]
id: MONDO:0006085
name: angiolipoma
def: "A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "angiolipoma, benign" EXACT [NCIT:C3733]
xref: DOID:3616 {source="MONDO:equivalentTo"}
xref: EFO:1000085 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8861/0 {source="NCIT:C3733"}
xref: MEDGEN:64621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018206 {source="MONDO:equivalentTo", source="DOID:3616"}
xref: NCIT:C3733 {source="EFO:1000085", source="MONDO:equivalentTo", source="DOID:3616"}
xref: SCTID:189780003 {source="DOID:3616"}
xref: SCTID:404057003 {source="MONDO:equivalentTo", source="DOID:3616"}
xref: SCTID:73219006 {source="DOID:3616"}
xref: UMLS:C0206632 {source="MEDGEN:64621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005106 {source="DOID:3616", source="EFO:1000085", source="NCIT:C3733"} ! lipoma

[Term]
id: MONDO:0006086
name: angiomyxoma
def: "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma." [NCIT:C3254]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000087 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8841/0 {source="NCIT:C3254"}
xref: ICDO:8841/1 {source="NCIT:C3254"}
xref: MEDGEN:1790210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009232
xref: NCIT:C3254 {source="EFO:1000087", source="MONDO:equivalentTo"}
xref: SCTID:404083008 {source="MONDO:equivalentTo"}
xref: UMLS:C5551004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790210"}
is_a: MONDO:0005070 {source="EFO:1000087", source="MESH:D009232/inferred", source="MONDO:Redundant", source="NCIT:C3254/inferred"} ! neoplasm
is_a: MONDO:0021581 {source="MESH:D009232", source="MONDO:indirect"} ! connective tissue neoplasm
is_a: MONDO:0044335 {source="NCIT:C3254/inferred"} ! benign soft tissue neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0006087
name: appendix adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the vermiform appendix." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:10564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of appendix" EXACT [DOID:3608, NCIT:C7718]
synonym: "adenocarcinoma of the appendix" EXACT [NCIT:C7718]
synonym: "APAD" RELATED ABBREVIATION [ONCOTREE:APAD]
synonym: "appendiceal adenocarcinoma" EXACT [DOID:3608, NCIT:C7718]
synonym: "appendix adenocarcinoma" EXACT [NCIT:C7718]
synonym: "vermiform appendix adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3608 {source="MONDO:equivalentTo"}
xref: EFO:1000088 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10564 {source="MONDO:GARD"}
xref: MEDGEN:65942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7718 {source="EFO:1000088", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3608"}
xref: ONCOTREE:APAD {source="MONDO:equivalentTo"}
xref: SCTID:413445002 {source="MONDO:equivalentTo", source="DOID:3608"}
xref: UMLS:C0238003 {source="MEDGEN:65942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003196 {source="DOID:3608", source="MONDO:Redundant", source="NCIT:C7718"} ! appendix carcinoma
is_a: MONDO:0004970 {source="DOID:3608", source="EFO:1000088", source="MONDO:Redundant", source="NCIT:C7718"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0006088
name: appendix adenoma
def: "A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." [NCIT:C43550]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "appendix adenoma" EXACT [NCIT:C43550]
synonym: "vermiform appendix adenoma" EXACT [MONDO:patterns/location]
xref: EFO:1000089 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:312900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43550 {source="EFO:1000089", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1706829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:312900"}
is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C43550"} ! appendiceal neoplasm
is_a: MONDO:0006180 {source="MONDO:Redundant", source="NCIT:C43550"} ! digestive system adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0006089
name: obsolete appendix goblet cell carcinoid
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4635" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018017

[Term]
id: MONDO:0006090
name: appendix hyperplastic polyp
def: "A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia." [NCIT:P378]
synonym: "appendix metaplastic polyp" EXACT [NCIT:C96416]
synonym: "vermiform appendix hyperplastic polyp" EXACT [MONDO:patterns/location]
xref: MEDGEN:474394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96416 {source="MONDO:equivalentTo", source="EFO:1000091"}
xref: UMLS:C3272761 {source="MEDGEN:474394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:1000091", source="MONDO:Redundant", source="NCIT:C96416/inferred"} ! polyp
is_a: MONDO:0006249 {source="MONDO:Redundant", source="NCIT:C96416"} ! hyperplastic polyp
intersection_of: MONDO:0006249 ! hyperplastic polyp
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0006091
name: appendix neuroendocrine tumor G1
def: "A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "appendiceal carcinoid tumor" EXACT [NCIT:C4138]
synonym: "appendiceal carcinoid tumour" EXACT OMO:0003005 []
synonym: "appendix carcinoid endocrine tumor" RELATED [DOID:0050911]
synonym: "appendix carcinoid endocrine tumour" RELATED OMO:0003005 []
synonym: "appendix carcinoid tumor" EXACT [MONDO:0000526]
synonym: "appendix carcinoid tumour" EXACT OMO:0003005 []
synonym: "appendix NET G1" EXACT [NCIT:C4138]
synonym: "appendix NET G1 (carcinoid)" EXACT [NCIT:C4138]
synonym: "appendix neuroendocrine tumor G1 (carcinoid)" EXACT [NCIT:C4138]
synonym: "appendix neuroendocrine tumour G1 (carcinoid)" EXACT OMO:0003005 []
synonym: "carcinoid tumor of appendix" EXACT [NCIT:C4138]
synonym: "carcinoid tumor of the appendix" EXACT [NCIT:C4138]
synonym: "carcinoid tumour of appendix" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the appendix" EXACT OMO:0003005 []
synonym: "grade 1 neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "vermiform appendix carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "vermiform appendix carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "vermiform appendix carcinoid tumour" EXACT OMO:0003005 []
synonym: "vermiform appendix carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "vermiform appendix NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "vermiform appendix neuroendocrine neoplasm G1" EXACT []
synonym: "vermiform appendix neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: DOID:0050911 {source="MONDO:equivalentTo"}
xref: EFO:1000092 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:209.11 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:8240/1 {source="NCIT:C4138"}
xref: MEDGEN:90758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4138 {source="MONDO:equivalentTo", source="EFO:1000092"}
xref: SCTID:253002004 {source="MONDO:equivalentTo"}
xref: UMLS:C0334298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90758"}
is_a: MONDO:0005369 {source="EFO:1000092", source="MONDO:Redundant", source="NCIT:C4138/inferred"} ! carcinoid tumor
is_a: MONDO:0015066 {source="MONDO:Redundant", source="NCIT:C4138"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system
relationship: excluded_subClassOf MONDO:0001235 {source="DOID:0050911", source="https://orcid.org/0000-0001-5208-3432"} ! appendix cancer

[Term]
id: MONDO:0006092
name: appendix villous adenoma
def: "An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia." [NCIT:C5512]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "appendix villous adenoma" EXACT [NCIT:C5512]
synonym: "vermiform appendix villous adenoma" EXACT [MONDO:patterns/location]
synonym: "villous adenoma of appendix" EXACT [NCIT:C5512]
synonym: "villous adenoma of the appendix" EXACT [NCIT:C5512]
xref: EFO:1000093 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5512 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000093"}
xref: UMLS:C1332329 {source="MONDO:equivalentTo", source="MEDGEN:233993", source="MONDO:MEDGEN"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C5512"} ! villous adenoma
is_a: MONDO:0006088 {source="MONDO:Redundant", source="NCIT:C5512"} ! appendix adenoma
intersection_of: MONDO:0000502 ! villous adenoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0006093
name: ascending colon neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6427]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ascending colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427]
synonym: "ascending colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "ascending colon carcinoid tumour" EXACT OMO:0003005 []
synonym: "ascending colon carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "ascending colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427]
synonym: "ascending colon neuroendocrine neoplasm G1" EXACT []
synonym: "ascending colon neuroendocrine tumor G1" EXACT [NCIT:C6427]
synonym: "ascending colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "carcinoid tumor of ascending colon" EXACT [NCIT:C6427]
synonym: "carcinoid tumor of the ascending colon" EXACT [NCIT:C6427]
synonym: "carcinoid tumour of ascending colon" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the ascending colon" EXACT OMO:0003005 []
synonym: "grade 1 neuroendocrine neoplasm of ascending colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: MEDGEN:231386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6427 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000094"}
xref: UMLS:C1332340 {source="MONDO:equivalentTo", source="MEDGEN:231386", source="MONDO:MEDGEN"}
is_a: MONDO:0002882 {source="MONDO:0006093/inferred", source="MONDO:Redundant", source="NCIT:C6427/inferred"} ! colon neuroendocrine neoplasm
is_a: MONDO:0005369 {source="EFO:1000094", source="MONDO:Redundant", source="NCIT:C6427/inferred"} ! carcinoid tumor
is_a: MONDO:0005401 {source="EFO:1000094", source="MONDO:Redundant", source="NCIT:C6427/inferred"} ! colonic neoplasm
is_a: MONDO:0006155 {source="MONDO:Redundant", source="NCIT:C6427"} ! colon neuroendocrine tumor G1
is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C6427/inferred"} ! intestinal neuroendocrine tumor G1
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001156 ! ascending colon
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0006094
name: Askin tumor
def: "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." [NCIT:C7542]
comment: Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Askin tumor" EXACT [NCIT:C7542]
synonym: "Askin's tumor" EXACT [DOID:0050608, NCIT:C7542]
synonym: "Askin's tumour" EXACT OMO:0003005 []
synonym: "peripheral neuroectodermal tumor of thoracopulmonary region" EXACT [NCIT:C7542]
synonym: "peripheral neuroectodermal tumour of thoracopulmonary region" EXACT OMO:0003005 []
synonym: "PNET of thoracopulmonary region" EXACT [NCIT:C7542]
synonym: "small cell tumor of thoracopulmonary region" EXACT [NCIT:C7542]
synonym: "small cell tumour of thoracopulmonary region" EXACT OMO:0003005 []
xref: DOID:0050608 {source="MONDO:equivalentTo"}
xref: EFO:1000095 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9365/3 {source="NCIT:C7542"}
xref: MEDGEN:209112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563168 {source="MONDO:equivalentTo"}
xref: NCIT:C7542 {source="EFO:1000095", source="MONDO:equivalentTo"}
xref: UMLS:C0877849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209112"}
is_a: MONDO:0018271 {source="NCIT:C7542"} ! peripheral primitive neuroectodermal tumor
relationship: disease_has_location UBERON:0002224 ! thoracic cavity

[Term]
id: MONDO:0006095
name: atypical carcinoid tumor
def: "A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." [NCIT:C72074]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical carcinoid tumor" EXACT [NCIT:C72074]
synonym: "malignant carcinoid tumor" EXACT [NCIT:C72074]
synonym: "malignant carcinoid tumour" EXACT OMO:0003005 []
xref: EFO:1000097 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:226834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C72074 {source="EFO:1000097", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:445238008 {source="MONDO:equivalentTo"}
xref: UMLS:C1266032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226834"}
is_a: MONDO:0005369 {source="EFO:1000097", source="NCIT:C72074"} ! carcinoid tumor

[Term]
id: MONDO:0006096
name: atypical endometrial hyperplasia
def: "An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." [NCIT:C4654]
subset: otar {source="MONDO:OTAR"}
synonym: "atypical hyperplasia of endometrium" EXACT [NCIT:C4654]
synonym: "atypical hyperplasia of the endometrium" EXACT [NCIT:C4654]
synonym: "endometrial hyperplasia with atypia" EXACT [NCIT:C4654]
xref: EFO:1000098 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:621.33 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:138105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4654 {source="EFO:1000098", source="MONDO:equivalentObsolete", source="MONDO:exact-label-match"}
xref: SCTID:277158007 {source="MONDO:equivalentTo"}
xref: UMLS:C0349579 {source="MEDGEN:138105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005043 {source="EFO:1000098", source="NCIT:C4654/inferred"} ! hyperplasia
relationship: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0006097
name: atypical lipomatous tumor
def: "An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." [NCIT:C6505]
subset: otar {source="MONDO:OTAR"}
synonym: "ALT" EXACT ABBREVIATION [NCIT:C6505]
synonym: "Atypical lipoma" EXACT [NCIT:C6505]
synonym: "lipoma-like liposarcoma" EXACT [NCIT:C6505]
synonym: "liposarcoma, well differentiated (morphologic abnormality)" EXACT [DOID:5690]
synonym: "superficial well differentiated liposarcoma" EXACT [NCIT:C6505]
synonym: "well differentiated liposarcoma" BROAD [NCIT:C6505]
synonym: "well differentiated liposarcoma of superficial soft tissue" EXACT [NCIT:C6505]
xref: DOID:5690 {source="MONDO:equivalentTo"}
xref: EFO:1000099 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8850/1 {source="NCIT:C6505"}
xref: MEDGEN:266102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4250 {source="MONDO:relatedTo", source="DOID:5690"}
xref: NCIT:C6505 {source="EFO:1000099", source="MONDO:equivalentTo"}
xref: SCTID:28655007 {source="DOID:5690"}
xref: UMLS:C1266129 {source="MONDO:equivalentTo", source="MEDGEN:266102", source="MONDO:MEDGEN"}
is_a: MONDO:0021354 {source="NCIT:C6505/inferred", source="NCIT:C7630"} ! tumor of adipose tissue

[Term]
id: MONDO:0006098
name: atypical lobular breast hyperplasia
def: "Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." [NCIT:C4730]
subset: otar {source="MONDO:OTAR"}
synonym: "ALH" EXACT ABBREVIATION [NCIT:C4730]
synonym: "atypical breast lobular hyperplasia" EXACT [NCIT:C4730]
synonym: "atypical lobular breast hyperplasia" EXACT [NCIT:C4730]
synonym: "atypical lobular hyperplasia" EXACT [NCIT:C4730]
synonym: "atypical lobular hyperplasia of breast" EXACT [NCIT:C4730]
synonym: "atypical lobular hyperplasia of the breast" EXACT [NCIT:C4730]
xref: EFO:1000100 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:610.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:277968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4730 {source="EFO:1000100", source="MONDO:equivalentTo"}
xref: SCTID:450697004 {source="MONDO:equivalentTo"}
xref: UMLS:C1368920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277968"}
is_a: MONDO:0002486 {source="NCIT:C4730"} ! lobular neoplasia
is_a: MONDO:0005043 {source="EFO:1000100", source="NCIT:C4730/inferred"} ! hyperplasia
relationship: disease_has_location UBERON:0018140 ! mammary lobe

[Term]
id: MONDO:0006099
name: obsolete B-cell prolymphocytic leukemia
is_obsolete: true
replaced_by: MONDO:0019461

[Term]
id: MONDO:0006100
name: obsolete Bartholin gland carcinoma
synonym: "obsolete Bartholin gland carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete Bartholin gland carcinoma (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0002829

[Term]
id: MONDO:0006101
name: obsolete Bartholin gland squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0004053

[Term]
id: MONDO:0006102
name: basaloid carcinoma
def: "A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." [NCIT:C4121]
subset: otar {source="MONDO:OTAR"}
synonym: "basaloid carcinoma" EXACT [NCIT:C4121]
xref: EFO:1000105 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8123/3 {source="NCIT:C4121"}
xref: MEDGEN:316439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4121 {source="MONDO:equivalentTo", source="EFO:1000105"}
xref: UMLS:C1704216 {source="MEDGEN:316439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="EFO:1000105", source="NCIT:C4121"} ! carcinoma
relationship: disease_has_location CL:0000066 {source="EFO:0000784"} ! epithelial cell

[Term]
id: MONDO:0006103
name: benign adrenal gland pheochromocytoma
def: "A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." [NCIT:C48305]
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal gland pheochromocytoma, benign" EXACT [MONDO:patterns/benign]
synonym: "benign adrenal gland pheochromocytoma" EXACT [NCIT:C48305]
synonym: "pheochromocytoma, benign" EXACT [NCIT:C48305]
xref: EFO:1000106 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:317403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C48305 {source="MONDO:equivalentTo", source="EFO:1000106", source="MONDO:exact-label-match"}
xref: UMLS:C1706920 {source="MEDGEN:317403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004974 {source="EFO:1000106", source="MONDO:Redundant", source="NCIT:C48305"} ! adrenal gland pheochromocytoma
is_a: MONDO:0021468 {source="MONDO:Redundant", source="NCIT:C48305"} ! benign neoplasm of adrenal medulla
intersection_of: MONDO:0004974 ! adrenal gland pheochromocytoma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0006104
name: benign carotid body paraganglioma
def: "A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." [NCIT:C79950]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign carotid body paraganglioma" EXACT [NCIT:C79950]
synonym: "benign chemodectoma" RELATED [NCIT:C79950]
synonym: "carotid body paraganglioma, benign" EXACT [MONDO:patterns/benign]
synonym: "chemodectoma, benign" RELATED [NCIT:C79950]
xref: EFO:1000108 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:396868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C79950 {source="MONDO:equivalentTo", source="NCIT:C79950", source="EFO:1000108"}
xref: UMLS:C2698359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396868"}
is_a: MONDO:0021053 {source="MONDO:Redundant", source="NCIT:C79950"} ! carotid body paraganglioma
intersection_of: MONDO:0021053 ! carotid body paraganglioma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0006105
name: benign conjunctival neoplasm
def: "Abnormal growth of the cells of the conjunctiva without malignant characteristics." [NCIT:C3622]
subset: otar {source="MONDO:OTAR"}
synonym: "benign conjunctiva neoplasm" EXACT [NCIT:C3622]
synonym: "benign conjunctiva tumor" EXACT [NCIT:C3622]
synonym: "benign conjunctiva tumour" EXACT OMO:0003005 []
synonym: "benign conjunctival neoplasm" EXACT [NCIT:C3622]
synonym: "benign conjunctival tumor" EXACT [NCIT:C3622]
synonym: "benign conjunctival tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of conjunctiva" EXACT [NCIT:C3622]
synonym: "benign neoplasm of the conjunctiva" EXACT [NCIT:C3622]
synonym: "benign tumor of conjunctiva" EXACT [NCIT:C3622]
synonym: "benign tumor of the conjunctiva" EXACT [NCIT:C3622]
synonym: "benign tumour of conjunctiva" EXACT OMO:0003005 []
synonym: "benign tumour of the conjunctiva" EXACT OMO:0003005 []
synonym: "conjunctiva benign neoplasm" EXACT [MONDO:patterns/location]
xref: EFO:1000110 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:56328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3622 {source="EFO:1000110", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92068002 {source="MONDO:equivalentTo"}
xref: UMLS:C0154025 {source="MEDGEN:56328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020204 {source="EFO:1000110", source="MONDO:Redundant", source="NCIT:C3622"} ! conjunctival tumor
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3622"} ! benign neoplasm of eye
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0006106
name: benign smooth muscle neoplasm
def: "A benign mesenchymal neoplasm arising from smooth muscle tissue." [NCIT:C6510]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of smooth muscle" EXACT [NCIT:C6510]
synonym: "benign neoplasm of the smooth muscle" EXACT [NCIT:C6510]
synonym: "benign smooth muscle neoplasm" EXACT [NCIT:C6510]
synonym: "benign smooth muscle tumor" EXACT [NCIT:C6510]
synonym: "benign smooth muscle tumour" EXACT OMO:0003005 []
synonym: "benign tumor of smooth muscle" EXACT [NCIT:C6510]
synonym: "benign tumor of the smooth muscle" EXACT [NCIT:C6510]
synonym: "benign tumour of smooth muscle" EXACT OMO:0003005 []
synonym: "benign tumour of the smooth muscle" EXACT OMO:0003005 []
synonym: "smooth muscle tissue benign neoplasm" EXACT [MONDO:patterns/location]
xref: EFO:1000121 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:231944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6510 {source="EFO:1000121", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231944"}
is_a: MONDO:0003061 {source="MONDO:Redundant", source="NCIT:C6510"} ! benign muscle neoplasm
is_a: MONDO:0006975 {source="EFO:1000121", source="NCIT:C6510"} ! smooth muscle tumor
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001135 ! smooth muscle tissue

[Term]
id: MONDO:0006107
name: benign thyroid gland neoplasm
def: "A benign neoplasm arising from the thyroid gland." [NCIT:C3628]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign neoplasm of the thyroid" EXACT [NCIT:C3628]
synonym: "benign neoplasm of the thyroid gland" EXACT [NCIT:C3628]
synonym: "benign neoplasm of thyroid" EXACT [NCIT:C3628]
synonym: "benign neoplasm of thyroid gland" EXACT [NCIT:C3628]
synonym: "benign neoplasm of thyroid glands" EXACT [NCIT:C3628]
synonym: "benign thyroid gland neoplasm" EXACT [NCIT:C3628]
synonym: "benign thyroid gland tumor" EXACT [NCIT:C3628]
synonym: "benign thyroid gland tumour" EXACT OMO:0003005 []
synonym: "benign thyroid neoplasm" EXACT [NCIT:C3628]
synonym: "benign thyroid neoplasm NOS" RELATED EXCLUDE [NCIT:C3628]
synonym: "benign thyroid tumor" EXACT [NCIT:C3628]
synonym: "benign thyroid tumour" EXACT OMO:0003005 []
synonym: "benign tumor of the thyroid" EXACT [NCIT:C3628]
synonym: "benign tumor of the thyroid gland" EXACT [NCIT:C3628]
synonym: "benign tumor of thyroid" EXACT [NCIT:C3628]
synonym: "benign tumor of thyroid gland" EXACT [NCIT:C3628]
synonym: "benign tumour of the thyroid" EXACT OMO:0003005 []
synonym: "benign tumour of the thyroid gland" EXACT OMO:0003005 []
synonym: "benign tumour of thyroid" EXACT OMO:0003005 []
synonym: "benign tumour of thyroid gland" EXACT OMO:0003005 []
synonym: "thyroid gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "thyroid neoplasm, benign" EXACT [NCIT:C3628]
xref: EFO:1000122 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:226 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3628 {source="EFO:1000122", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:92439006 {source="MONDO:equivalentTo"}
xref: UMLS:C0154038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102306"}
is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm
is_a: MONDO:0003240 {source="MONDO:Redundant", source="NCIT:C3628/inferred"} ! thyroid gland disorder
is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C3628"} ! thyroid tumor
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0006108
name: bile duct adenoma
def: "A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction." [NCIT:C2942]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of bile duct" EXACT [NCIT:C2942]
synonym: "adenoma of the bile duct" EXACT [NCIT:C2942]
synonym: "bile duct adenoma" EXACT [MONDO:patterns/location, NCIT:C2942]
synonym: "bile duct adenoma (morphologic abnormality)" EXACT [DOID:5381]
synonym: "Cholangioadenoma" EXACT [DOID:5381, NCIT:C2942]
synonym: "Cholangioma" EXACT [NCIT:C2942]
synonym: "CHOLANGIOMA, benign" EXACT [NCIT:C2942]
synonym: "Hepatocholangiocellular adenoma" EXACT [NCIT:C2942]
synonym: "Hepatocholangioma" EXACT [NCIT:C2942]
xref: DOID:5381 {source="MONDO:equivalentTo"}
xref: EFO:1000123 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8160/0 {source="NCIT:C2942"}
xref: MEDGEN:918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002759 {source="MONDO:equivalentTo", source="DOID:5381"}
xref: NCIT:C2942 {source="MONDO:equivalentTo", source="EFO:1000123", source="DOID:5381", source="MONDO:exact-label-match"}
xref: SCTID:189591008 {source="DOID:5381"}
xref: SCTID:39471001 {source="DOID:5381"}
xref: SCTID:424091006 {source="MONDO:equivalentTo", source="DOID:5381"}
xref: UMLS:C0008309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:918"}
is_a: MONDO:0002887 {source="DOID:5381", source="MONDO:Redundant", source="NCIT:C2942/inferred"} ! bile duct disorder
is_a: MONDO:0004972 {source="DOID:5381", source="EFO:1000123", source="MESH:D002759", source="MONDO:Redundant", source="NCIT:C2942/inferred"} ! adenoma
is_a: MONDO:0005304 {source="DOID:5381", source="MONDO:Redundant"} ! biliary tract neoplasm
is_a: MONDO:0006180 {source="NCIT:C2942"} ! digestive system adenoma
is_a: MONDO:0021662 {source="MONDO:Redundant", source="NCIT:C2942"} ! bile duct neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0006109
name: malignant biphasic mesothelioma
def: "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." [NCIT:C4282]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "biphasic mesothelioma" EXACT [NCIT:C4282]
synonym: "malignant biphasic mesothelioma" EXACT [MONDO:0003015, NCIT:C4282]
synonym: "malignant biphasic mesothelioma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant mixed mesothelioma" EXACT [NCIT:C4282]
synonym: "mesothelioma, biphasic, malignant" EXACT [DOID:4486]
synonym: "mesothelioma, biphasic, malignant (morphologic abnormality)" EXACT [DOID:4486]
synonym: "mixed mesothelioma" EXACT [DOID:4486, NCIT:C4282]
xref: DOID:4486 {source="MONDO:equivalentTo"}
xref: EFO:1000124 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9053/3 {source="NCIT:C4282"}
xref: MEDGEN:137775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4282 {source="DOID:4486", source="EFO:1000124", source="MONDO:equivalentTo"}
xref: SCTID:30383009 {source="DOID:4486"}
xref: UMLS:C0334515 {source="MEDGEN:137775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005065 {source="EFO:1000124", source="MONDO:Redundant", source="NCIT:C4282/inferred"} ! mesothelioma
is_a: MONDO:0006292 {source="DOID:4486", source="NCIT:C4282/inferred"} ! malignant mesothelioma

[Term]
id: MONDO:0006110
name: obsolete bladder adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0002751

[Term]
id: MONDO:0006111
name: bladder flat intraepithelial lesion
def: "A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." [NCIT:C37266]
subset: otar {source="MONDO:OTAR"}
synonym: "bladder flat intraepithelial lesion" EXACT [NCIT:C37266]
synonym: "flat intraepithelial lesion of the bladder" EXACT [NCIT:C37266]
synonym: "flat intraepithelial lesion of the urinary bladder" EXACT [DOID:5429, NCIT:C37266]
synonym: "urinary bladder flat intraepithelial lesion" EXACT [NCIT:C37266]
xref: DOID:5429 {source="MONDO:equivalentTo"}
xref: EFO:1000126 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:231947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37266 {source="MONDO:equivalentTo", source="DOID:5429", source="EFO:1000126", source="MONDO:exact-label-match"}
xref: UMLS:C1332559 {source="MEDGEN:231947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004987 {source="NCIT:C37266"} ! urinary bladder neoplasm

[Term]
id: MONDO:0006112
name: bladder inflammatory myofibroblastic tumor
def: "A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C6177]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bladder inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6177]
synonym: "bladder inflammatory myofibroblastic tumor" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic bladder tumor" RELATED [ONCOTREE:IMTB]
synonym: "inflammatory myofibroblastic bladder tumour" RELATED OMO:0003005 []
synonym: "inflammatory myofibroblastic neoplasm of bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic neoplasm of the bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic neoplasm of the urinary bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic neoplasm of urinary bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumor of bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumor of the bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumor of the urinary bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumor of urinary bladder" EXACT [NCIT:C6177]
synonym: "inflammatory myofibroblastic tumour of bladder" EXACT OMO:0003005 []
synonym: "inflammatory myofibroblastic tumour of the bladder" EXACT OMO:0003005 []
synonym: "inflammatory myofibroblastic tumour of the urinary bladder" EXACT OMO:0003005 []
synonym: "inflammatory myofibroblastic tumour of urinary bladder" EXACT OMO:0003005 []
synonym: "urinary bladder inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6177]
synonym: "urinary bladder inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location, NCIT:C6177]
synonym: "urinary bladder inflammatory myofibroblastic tumour" EXACT OMO:0003005 []
xref: EFO:1000127 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:237036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6177 {source="MONDO:equivalentTo", source="EFO:1000127", source="MONDO:exact-label-match"}
xref: ONCOTREE:IMTB {source="MONDO:equivalentTo"}
xref: UMLS:C1336891 {source="MEDGEN:237036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004987 {source="MONDO:Redundant", source="NCIT:C6177"} ! urinary bladder neoplasm
is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C6177"} ! inflammatory myofibroblastic tumor
intersection_of: MONDO:0015798 ! inflammatory myofibroblastic tumor
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0006113
name: obsolete bladder small cell neuroendocrine carcinoma
is_obsolete: true
replaced_by: MONDO:0004114

[Term]
id: MONDO:0006114
name: obsolete bladder squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0002760

[Term]
id: MONDO:0006115
name: blast phase chronic myelogenous leukemia, BCR-ABL1 positive
def: "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." [NCIT:C9110]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blast crises" RELATED [MESH:D001752]
synonym: "blast crisis" EXACT [NCIT:C9110]
synonym: "blast phase" RELATED [MESH:D001752]
synonym: "blast phase chronic granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "blast phase chronic granulocytic leukemia" EXACT [NCIT:C9110]
synonym: "blast phase chronic myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "blast phase chronic myelocytic leukemia" EXACT [NCIT:C9110]
synonym: "blast phase chronic myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "blast phase chronic myelogenous leukemia" EXACT [NCIT:C9110]
synonym: "blast phase chronic myeloid leukaemia" EXACT OMO:0003005 []
synonym: "blast phase chronic myeloid leukemia" EXACT [NCIT:C9110]
synonym: "blast phase CML" EXACT [NCIT:C9110]
synonym: "blast phases" RELATED [MESH:D001752]
synonym: "blastic phase chronic granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "blastic phase chronic granulocytic leukemia" EXACT [NCIT:C9110]
synonym: "blastic phase chronic myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "blastic phase chronic myelocytic leukemia" EXACT [NCIT:C9110]
synonym: "blastic phase chronic myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "blastic phase chronic myelogenous leukemia" EXACT [NCIT:C9110]
synonym: "blastic phase chronic myeloid leukaemia" EXACT OMO:0003005 []
synonym: "blastic phase chronic myeloid leukemia" EXACT [NCIT:C9110]
synonym: "blastic phase CML" EXACT [NCIT:C9110]
synonym: "crises, blast" RELATED [MESH:D001752]
synonym: "crisis, blast" RELATED [MESH:D001752]
synonym: "phase, blast" RELATED [MESH:D001752]
synonym: "phases, blast" RELATED [MESH:D001752]
xref: EFO:1000131 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:2281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001752 {source="MONDO:equivalentTo"}
xref: NCIT:C9110 {source="EFO:1000131", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:413656006 {source="MONDO:equivalentTo"}
xref: UMLS:C0005699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2281"}
is_a: MONDO:0005059 {source="EFO:1000131", source="MESH:D001752/inferred", source="NCIT:C9110/inferred"} ! leukemia
is_a: MONDO:0005170 {source="EFO:1000131", source="NCIT:C9110/inferred"} ! myeloid neoplasm
is_a: MONDO:0011996 {source="NCIT:C9110"} ! chronic myelogenous leukemia, BCR-ABL1 positive

[Term]
id: MONDO:0006116
name: breast carcinoma by gene expression profile
def: "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma." [NCIT:C53553]
subset: otar {source="MONDO:OTAR"}
synonym: "breast carcinoma by gene expression profile" EXACT [NCIT:C53553]
xref: EFO:1000143 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:770984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53553 {source="EFO:1000143", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C3642344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:770984"}
is_a: MONDO:0004989 {source="EFO:1000143", source="NCIT:C53553"} ! breast carcinoma

[Term]
id: MONDO:0006117
name: breast diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." [NCIT:C40375]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C40375]
synonym: "breast DLBCL" EXACT [NCIT:C40375]
synonym: "diffuse large B-cell lymphoma of breast" EXACT [MONDO:design_pattern]
xref: EFO:1000144 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:267764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40375 {source="EFO:1000144", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1511306 {source="MEDGEN:267764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003661 {source="MONDO:Redundant", source="NCIT:C40375/inferred"} ! breast lymphoma
is_a: MONDO:0005062 {source="EFO:1000144", source="MONDO:Redundant", source="NCIT:C40375/inferred"} ! lymphoma
is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C40375"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma
intersection_of: disease_has_location UBERON:0000310 ! breast
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage
relationship: disease_has_location UBERON:0001911 ! mammary gland

[Term]
id: MONDO:0006118
name: breast fibrosis
def: "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." [NCIT:C3660]
subset: otar {source="MONDO:OTAR"}
synonym: "breast fibrosclerosis" EXACT [NCIT:C3660]
synonym: "breast fibrosis" EXACT [NCIT:C3660]
synonym: "fibrosclerosis of breast" EXACT [DOID:10353, ICD9CM:610.3, MONDO:0001013, NCIT:C3660]
synonym: "fibrosclerosis of the breast" EXACT [NCIT:C3660]
synonym: "fibrosis of breast" EXACT [NCIT:C3660]
synonym: "fibrosis of the breast" EXACT [DOID:10353, NCIT:C3660]
xref: DOID:10353 {source="MONDO:equivalentTo"}
xref: EFO:1000145 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N60.3 {source="MONDO:equivalentTo", source="DOID:10353"}
xref: ICD9:610.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10353"}
xref: MEDGEN:57627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3660 {source="MONDO:equivalentTo", source="EFO:1000145", source="DOID:10353"}
xref: SCTID:29070004 {source="MONDO:equivalentTo", source="DOID:10353"}
xref: UMLS:C0156318 {source="MEDGEN:57627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003724 {source="DOID:10353", source="NCIT:C3660"} ! non-proliferative fibrocystic change of the breast
is_a: MONDO:0005070 {source="DOID:10353/inferred", source="EFO:1000145", source="EFO:1000145/inferred", source="MONDO:Redundant"} ! neoplasm
relationship: disease_has_location UBERON:0001911 ! mammary gland

[Term]
id: MONDO:0006119
name: breast mucosa-associated lymphoid tissue lymphoma
def: "An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." [NCIT:C35688]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "breast MALT lymphoma" EXACT [NCIT:C35688]
synonym: "breast mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C35688]
xref: MEDGEN:234051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35688 {source="EFO:1000146", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1332633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234051"}
is_a: MONDO:0005062 {source="EFO:1000146", source="MONDO:Redundant", source="NCIT:C35688/inferred"} ! lymphoma
is_a: MONDO:0007650 {source="NCIT:C35688"} ! MALT lymphoma
relationship: disease_has_location UBERON:0001911 ! mammary gland

[Term]
id: MONDO:0006120
name: C-cell hyperplasia
def: "Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." [NCIT:C46100]
subset: otar {source="MONDO:OTAR"}
synonym: "C-cell hyperplasia" EXACT [NCIT:C46100]
xref: EFO:1000147 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:90975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C46100 {source="MONDO:equivalentTo", source="EFO:1000147", source="MONDO:exact-label-match"}
xref: UMLS:C0342190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90975"}
is_a: MONDO:0003240 {source="NCIT:C46100"} ! thyroid gland disorder
is_a: MONDO:0005043 {source="EFO:1000147", source="NCIT:C46100"} ! hyperplasia

[Term]
id: MONDO:0006121
name: calcifying fibrous tumor
def: "A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." [NCIT:C6488]
subset: otar {source="MONDO:OTAR"}
synonym: "calcifying fibrous pseudotumor" EXACT [NCIT:C6488]
synonym: "calcifying fibrous tumor" EXACT [NCIT:C6488]
synonym: "CFT" EXACT ABBREVIATION [NCIT:C6488]
xref: EFO:1000148 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6488 {source="MONDO:equivalentTo", source="EFO:1000148"}
xref: UMLS:C1332833 {source="MEDGEN:232021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000148", source="MONDO:Redundant", source="NCIT:C6488/inferred"} ! neoplasm
is_a: MONDO:0005165 {source="NCIT:C6488"} ! benign neoplasm

[Term]
id: MONDO:0006122
name: calcifying nested epithelial stromal tumor of the liver
def: "A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present." [NCIT:C96830]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000149 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8975/1 {source="NCIT:C96830"}
xref: MEDGEN:758637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96830 {source="MONDO:equivalentTo", source="EFO:1000149", source="MONDO:exact-label-match"}
xref: UMLS:C3472610 {source="MEDGEN:758637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002691 {source="MONDO:Redundant", source="NCIT:C96830/inferred"} ! liver cancer
is_a: MONDO:0004992 {source="MONDO:Redundant", source="NCIT:C96830/inferred"} ! cancer
is_a: MONDO:0005070 {source="EFO:1000149", source="EFO:1000149/inferred", source="MONDO:Redundant", source="NCIT:C96830/inferred"} ! neoplasm
relationship: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0006123
name: cardiac rhabdomyoma
def: "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cardiac rhabdomyoma" EXACT [MONDO:ambiguous]
synonym: "cardiac rhabdomyoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "heart rhabdomyoma" EXACT [MONDO:patterns/location, NCIT:C6739]
synonym: "rhabdomyoma of heart" EXACT [NCIT:C6739]
synonym: "rhabdomyoma of the heart" EXACT [NCIT:C6739]
xref: EFO:1000150 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0009729 {source="MONDO:otherHierarchy"}
xref: MEDGEN:232027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6739 {source="EFO:1000150", source="MONDO:equivalentTo"}
xref: UMLS:C1332852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232027"}
intersection_of: MONDO:0036688 ! rhabdomyoma
intersection_of: disease_has_location UBERON:0000948 ! heart
property_value: IAO:0000589 "cardiac rhabdomyoma (disease)" xsd:string

[Term]
id: MONDO:0006126
name: cecum neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5501]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "caecal carcinoid tumor" EXACT [NCIT:C5501]
synonym: "caecal carcinoid tumour" EXACT OMO:0003005 []
synonym: "caecum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5501]
synonym: "caecum carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "caecum carcinoid tumour" EXACT OMO:0003005 []
synonym: "caecum carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "caecum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "caecum neuroendocrine neoplasm G1" EXACT []
synonym: "caecum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "carcinoid tumor of cecum" EXACT [NCIT:C5501]
synonym: "carcinoid tumor of the cecum" EXACT [NCIT:C5501]
synonym: "carcinoid tumour of cecum" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the cecum" EXACT OMO:0003005 []
synonym: "cecal carcinoid tumor" EXACT [NCIT:C5501]
synonym: "cecal carcinoid tumour" EXACT OMO:0003005 []
synonym: "cecum carcinoid tumor" EXACT [NCIT:C5501]
synonym: "cecum carcinoid tumour" EXACT OMO:0003005 []
synonym: "cecum NET G1" EXACT [NCIT:C5501]
synonym: "cecum neuroendocrine tumor G1" EXACT [NCIT:C5501]
synonym: "grade 1 neuroendocrine neoplasm of caecum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: MEDGEN:167703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5501 {source="EFO:1000154", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0854488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167703"}
is_a: MONDO:0002882 {source="MONDO:Redundant", source="NCIT:C5501/inferred"} ! colon neuroendocrine neoplasm
is_a: MONDO:0005369 {source="EFO:1000154", source="MONDO:Redundant", source="NCIT:C5501/inferred"} ! carcinoid tumor
is_a: MONDO:0005401 {source="EFO:1000154", source="MONDO:Redundant", source="NCIT:C5501/inferred"} ! colonic neoplasm
is_a: MONDO:0005694 {source="MONDO:Redundant", source="NCIT:C5501"} ! cecal neoplasm
is_a: MONDO:0006155 {source="MONDO:Redundant", source="NCIT:C5501"} ! colon neuroendocrine tumor G1
is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C5501/inferred"} ! intestinal neuroendocrine tumor G1
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001153 ! caecum
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0006127
name: obsolete cecum villous adenoma
is_obsolete: true
replaced_by: MONDO:0000525

[Term]
id: MONDO:0006128
name: central nervous system anaplastic large cell lymphoma
def: "An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." [NCIT:C5322]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic central nervous system large cell lymphoma" EXACT [NCIT:C5322]
synonym: "anaplastic CNS large cell lymphoma" EXACT [NCIT:C5322]
synonym: "anaplastic large cell lymphoma of central nervous system" EXACT [NCIT:C5322]
synonym: "anaplastic large cell lymphoma of CNS" EXACT [NCIT:C5322]
synonym: "anaplastic large cell lymphoma of the central nervous system" EXACT [NCIT:C5322]
synonym: "anaplastic large cell lymphoma of the CNS" EXACT [NCIT:C5322]
synonym: "central nervous system anaplastic large cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C5322]
synonym: "primary central nervous system anaplastic large cell lymphoma" EXACT [NCIT:C5322]
synonym: "primary CNS anaplastic large cell lymphoma" EXACT [NCIT:C5322]
xref: EFO:1000156 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5322 {source="MONDO:equivalentTo", source="EFO:1000156", source="MONDO:exact-label-match"}
xref: UMLS:C1335476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235493"}
is_a: MONDO:0002571 {source="MONDO:Entailed", source="NCIT:C5322/inferred"} ! primary central nervous system lymphoma
is_a: MONDO:0020325 {source="EFO:1000156", source="MONDO:Redundant", source="NCIT:C5322"} ! anaplastic large cell lymphoma
intersection_of: MONDO:0020325 ! anaplastic large cell lymphoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0006129
name: obsolete central nervous system lymphoma
is_obsolete: true
replaced_by: MONDO:0002571

[Term]
id: MONDO:0006130
name: central nervous system neoplasm
def: "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." [NCIT:C9293]
subset: otar {source="MONDO:OTAR"}
synonym: "brain/spinal cord tumor" EXACT [NCIT:C9293]
synonym: "brain/spinal cord tumour" EXACT OMO:0003005 []
synonym: "central nervous system neoplasm" EXACT [NCIT:C9293]
synonym: "central nervous system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "central nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C9293]
synonym: "central nervous system tumour" EXACT OMO:0003005 []
synonym: "CNS neoplasm" EXACT [NCIT:C9293]
synonym: "CNS tumor" EXACT [NCIT:C9293]
synonym: "CNS tumour" EXACT OMO:0003005 []
synonym: "neoplasm of central nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C9293]
synonym: "neoplasm of CNS" EXACT [NCIT:C9293]
synonym: "neoplasm of the central nervous system" EXACT [NCIT:C9293]
synonym: "tumor of central nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C9293]
synonym: "tumor of CNS" EXACT [NCIT:C9293]
synonym: "tumor of the central nervous system" EXACT [NCIT:C9293]
synonym: "tumor of the CNS" EXACT [NCIT:C9293]
synonym: "tumour of central nervous system" EXACT OMO:0003005 []
synonym: "tumour of CNS" EXACT OMO:0003005 []
synonym: "tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "tumour of the CNS" EXACT OMO:0003005 []
xref: EFO:1000158 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:88335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9293 {source="MONDO:equivalentTo", source="EFO:1000158"}
xref: UMLS:C0085136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88335"}
is_a: MONDO:0002602 {source="MONDO:Redundant", source="NCIT:C9293"} ! central nervous system disorder
is_a: MONDO:0005070 {source="EFO:1000158", source="MONDO:0006130/inferred", source="MONDO:Redundant", source="NCIT:C9293/inferred"} ! neoplasm
is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C9293"} ! nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0006131
name: cerebellar liponeurocytoma
def: "A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" [NCIT:C6905]
subset: gard_rare {source="GARD:10642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251931"}
subset: orphanet_rare {source="Orphanet:251931"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar liponeurocytoma" EXACT [DOID:6458]
synonym: "cerebellar liponeurocytoma (WHO grade II)" EXACT [NCIT:C6905]
synonym: "CLNC" RELATED ABBREVIATION [ONCOTREE:CLNC]
synonym: "lipomatous medulloblastoma" EXACT [DOID:6458, NCIT:C6905]
synonym: "lipomatous medulloblastoma (formerly)" RELATED DEPRECATED [GARD:0010642]
xref: DOID:6458 {source="MONDO:equivalentTo"}
xref: EFO:1000159 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10642 {source="MONDO:GARD"}
xref: ICDO:0000/0 {source="NCIT:C6905"}
xref: MEDGEN:237160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6905 {source="DOID:6458", source="MONDO:equivalentTo", source="EFO:1000159", source="MONDO:exact-label-match"}
xref: ONCOTREE:CLNC {source="MONDO:equivalentTo"}
xref: Orphanet:251931 {source="MONDO:equivalentTo"}
xref: SCTID:128858006 {source="DOID:6458"}
xref: SCTID:716592003 {source="MONDO:equivalentTo"}
xref: UMLS:C1370507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237160"}
is_a: MONDO:0002913 {source="DOID:6458", source="NCIT:C6905/inferred"} ! cerebellar neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma" xsd:anyURI {source="GARD:0010642"}

[Term]
id: MONDO:0006132
name: cervical adenoid basal carcinoma
def: "A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations." [NCIT:P378]
subset: gard_rare {source="GARD:20499", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:213828"}
subset: orphanet_rare {source="Orphanet:213828"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid basal carcinoma of the cervix uteri" EXACT [MONDO:0016287]
synonym: "cervical adenoid basal cancer" EXACT [NCIT:C40213]
synonym: "cervical adenoid basal carcinoma" EXACT [Orphanet:213828]
synonym: "skin adenoid basal cell carcinoma of uterine cervix" EXACT [MONDO:design_pattern]
synonym: "uterine cervix skin adenoid basal cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:6428 {source="MONDO:equivalentTo"}
xref: EFO:1000160 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20499 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213828/btnt", source="Orphanet:213828"}
xref: ICD10CM:C53.1 {source="Orphanet:213828/btnt", source="Orphanet:213828"}
xref: ICD10CM:C53.8 {source="Orphanet:213828/btnt", source="Orphanet:213828"}
xref: MEDGEN:275704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40213 {source="DOID:6428", source="MONDO:equivalentTo", source="EFO:1000160"}
xref: ONCOTREE:CABC {source="MONDO:equivalentTo"}
xref: Orphanet:213828 {source="MONDO:equivalentTo"}
xref: UMLS:C1516403 {source="MEDGEN:275704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002974 {source="MONDO:Redundant", source="Orphanet:213828"} ! cervical cancer
is_a: MONDO:0005131 {source="DOID:6428", source="EFO:1000160", source="NCIT:C40213"} ! cervical carcinoma
intersection_of: MONDO:0002951 ! skin adenoid basal cell carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6924" xsd:anyURI

[Term]
id: MONDO:0006133
name: cervical adenoid cystic carcinoma
def: "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." [NCIT:C6346]
subset: gard_rare {source="GARD:20498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213823"}
subset: orphanet_rare {source="Orphanet:213823"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of cervix" EXACT [NCIT:C6346]
synonym: "adenoid cystic carcinoma of cervix uteri" EXACT [NCIT:C6346]
synonym: "adenoid cystic carcinoma of the cervix" EXACT [NCIT:C6346]
synonym: "adenoid cystic carcinoma of the cervix uteri" EXACT [DOID:4867, NCIT:C6346]
synonym: "adenoid cystic carcinoma of the uterine cervix" EXACT [NCIT:C6346]
synonym: "adenoid cystic carcinoma of uterine cervix" EXACT [NCIT:C6346]
synonym: "cervical adenoid cystic cancer" EXACT [NCIT:C6346]
synonym: "cervical adenoid cystic carcinoma" EXACT [NCIT:C6346, Orphanet:213823]
synonym: "cervix uteri adenoid cystic carcinoma" EXACT [NCIT:C6346]
synonym: "uterine cervix adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6346]
xref: DOID:4867 {source="MONDO:equivalentTo"}
xref: EFO:1000161 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20498 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213823", source="Orphanet:213823/btnt"}
xref: ICD10CM:C53.1 {source="Orphanet:213823", source="Orphanet:213823/btnt"}
xref: ICD10CM:C53.8 {source="Orphanet:213823", source="Orphanet:213823/btnt"}
xref: MEDGEN:232337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6346 {source="EFO:1000161", source="MONDO:equivalentTo", source="DOID:4867"}
xref: ONCOTREE:CACC {source="MONDO:equivalentTo"}
xref: Orphanet:213823 {source="MONDO:equivalentTo"}
xref: UMLS:C1332911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232337"}
is_a: MONDO:0004971 {source="EFO:1000161", source="MONDO:0006133/inferred", source="MONDO:Redundant", source="NCIT:C6346"} ! adenoid cystic carcinoma
is_a: MONDO:0005131 {source="DOID:4867", source="EFO:1000161", source="MONDO:Redundant", source="NCIT:C6346"} ! cervical carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4898" xsd:anyURI

[Term]
id: MONDO:0006134
name: cervical adenosquamous carcinoma
def: "An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells." [NCIT:C4519]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosquamous carcinoma of cervix" EXACT [DOID:5636]
synonym: "adenosquamous cell carcinoma of cervix" EXACT [NCIT:C4519]
synonym: "adenosquamous cell carcinoma of cervix uteri" EXACT [NCIT:C4519]
synonym: "adenosquamous cell carcinoma of the cervix" EXACT [NCIT:C4519]
synonym: "adenosquamous cell carcinoma of the cervix uteri" EXACT [DOID:5636, NCIT:C4519]
synonym: "adenosquamous cell carcinoma of the uterine cervix" EXACT [NCIT:C4519]
synonym: "adenosquamous cell carcinoma of uterine cervix" EXACT [NCIT:C4519]
synonym: "cervical adenosquamous cancer" EXACT [NCIT:C4519]
synonym: "cervical adenosquamous carcinoma" EXACT [NCIT:C4519]
synonym: "cervical adenosquamous cell carcinoma" EXACT [NCIT:C4519]
synonym: "cervix adenosquamous cell carcinoma" EXACT [NCIT:C4519]
synonym: "cervix uteri adenosquamous cell carcinoma" EXACT [NCIT:C4519]
synonym: "uterine cervix adenosquamous cell carcinoma" EXACT [NCIT:C4519]
xref: DOID:5636 {source="MONDO:equivalentTo"}
xref: EFO:1000162 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4519 {source="EFO:1000162", source="DOID:5636", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:CEAS {source="MONDO:equivalentTo"}
xref: SCTID:254888007 {source="DOID:5636", source="MONDO:equivalentTo"}
xref: UMLS:C0346202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91091"}
is_a: MONDO:0005131 {source="DOID:5636/inferred", source="EFO:1000162", source="MONDO:0006134/inferred", source="MONDO:Redundant", source="NCIT:C4519"} ! cervical carcinoma
is_a: MONDO:0005153 {source="DOID:5636"} ! cervical adenocarcinoma
is_a: MONDO:0006074 {source="NCIT:C4519"} ! adenosquamous carcinoma

[Term]
id: MONDO:0006135
name: cervical clear cell adenocarcinoma
def: "A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." [NCIT:C6344]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervical clear cell adenocarcinoma" EXACT [NCIT:C6344]
synonym: "cervical clear cell carcinoma" EXACT [NCIT:C6344]
synonym: "cervix clear cell adenocarcinoma" EXACT [NCIT:C6344]
synonym: "cervix clear cell carcinoma" EXACT [NCIT:C6344]
synonym: "cervix uteri clear cell adenocarcinoma" EXACT [NCIT:C6344]
synonym: "cervix uteri clear cell carcinoma" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of cervix" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of cervix uteri" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of the cervix" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of the cervix uteri" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of the uterine cervix" EXACT [NCIT:C6344]
synonym: "clear cell adenocarcinoma of uterine cervix" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of cervix" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of cervix uteri" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of the cervix" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of the cervix uteri" EXACT [DOID:5303, NCIT:C6344]
synonym: "clear cell carcinoma of the uterine cervix" EXACT [NCIT:C6344]
synonym: "clear cell carcinoma of uterine cervix" EXACT [NCIT:C6344]
synonym: "uterine cervix clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6344]
synonym: "uterine cervix clear cell carcinoma" EXACT [NCIT:C6344]
xref: DOID:5303 {source="MONDO:equivalentTo"}
xref: EFO:1000163 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6344 {source="EFO:1000163", source="DOID:5303", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:CECC {source="MONDO:equivalentTo"}
xref: UMLS:C1332912 {source="MEDGEN:234113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005004 {source="EFO:1000163", source="MONDO:Redundant", source="NCIT:C6344"} ! clear cell adenocarcinoma
is_a: MONDO:0005153 {source="DOID:5303", source="EFO:1000163", source="NCIT:C6344", source="ONCOTREE:CECC"} ! cervical adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0006136
name: obsolete cervical endometrioid adenocarcinoma
is_obsolete: true

[Term]
id: MONDO:0006137
name: cervical intraepithelial neoplasia grade 2/3
def: "A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CIN 2/3" EXACT [NCIT:C94676]
xref: EFO:1000166 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:458848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C94676 {source="EFO:1000166", source="MONDO:equivalentTo"}
xref: UMLS:C2986622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:458848"}
is_a: MONDO:0022394 {source="NCIT:C94676"} ! cervical intraepithelial neoplasia
relationship: excluded_subClassOf MONDO:0005153 {source="EFO:1000166", source="https://orcid.org/0000-0001-5208-3432"} ! cervical adenocarcinoma

[Term]
id: MONDO:0006138
name: cervical large cell neuroendocrine carcinoma
def: "A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." [NCIT:C40214]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervical large cell neuroendocrine carcinoma" EXACT [MONDO:0003961, NCIT:C40214]
synonym: "cervical neuroendocrine tumor" RELATED [ONCOTREE:CENE]
synonym: "cervical neuroendocrine tumour" RELATED OMO:0003005 []
xref: DOID:6659 {source="MONDO:equivalentTo"}
xref: EFO:1000167 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:275711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40214 {source="DOID:6659", source="MONDO:equivalentTo", source="EFO:1000167"}
xref: ONCOTREE:CENE {source="MONDO:equivalentTo"}
xref: UMLS:C1516417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275711"}
is_a: MONDO:0005057 {source="EFO:1000167", source="NCIT:C40214"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005131 {source="DOID:6659", source="EFO:1000167", source="MONDO:Entailed", source="NCIT:C40214/inferred"} ! cervical carcinoma

[Term]
id: MONDO:0006139
name: cervical metaplasia
def: "Metaplastic changes in the cervical glandular or squamous epithelium." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000168 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:129096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4056 {source="EFO:1000168", source="MONDO:otherHierarchy"}
xref: UMLS:C0281796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:129096"}
is_a: MONDO:0002256 {source="https://orcid.org/0000-0001-5208-3432"} ! cervix disorder
relationship: excluded_subClassOf MONDO:0005153 {source="EFO:1000168", source="https://orcid.org/0000-0001-5208-3432"} ! cervical adenocarcinoma

[Term]
id: MONDO:0006140
name: cervical mucinous adenocarcinoma, minimal deviation variant
def: "A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands." [NCIT:C40206]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervical adenoma malignum" EXACT [MONDO:0003949, NCIT:C40206]
synonym: "cervical mucinous adenocarcinoma, minimal deviation type" EXACT [NCIT:C40206]
synonym: "cervical mucinous adenocarcinoma, minimal deviation variant" EXACT [NCIT:C40206]
xref: DOID:6627 {source="MONDO:equivalentTo"}
xref: EFO:1000169 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:273125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40206 {source="MONDO:equivalentTo", source="DOID:6627", source="EFO:1000169"}
xref: UMLS:C1516423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273125"}
is_a: MONDO:0002742 {source="DOID:6627", source="NCIT:C40206"} ! cervical mucinous adenocarcinoma

[Term]
id: MONDO:0006141
name: cervical villoglandular adenocarcinoma
def: "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern." [NCIT:C40208]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical adenocarcinoma, villoglandular variant" EXACT [NCIT:C40208]
synonym: "cervical villoglandular adenocarcinoma" EXACT [NCIT:C40208]
synonym: "cervical villoglandular carcinoma" EXACT [NCIT:C40208]
synonym: "villoglandular adenocarcinoma of the cervix" RELATED [ONCOTREE:VGCE]
synonym: "villoglandular variant cervical mucinous adenocarcinoma" EXACT [MONDO:0004536]
xref: DOID:8338 {source="MONDO:equivalentTo"}
xref: MEDGEN:927340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40208 {source="DOID:8338", source="MONDO:equivalentTo", source="EFO:1000170"}
xref: ONCOTREE:VGCE {source="MONDO:equivalentTo"}
xref: UMLS:C4289808 {source="MONDO:equivalentTo", source="MEDGEN:927340", source="MONDO:MEDGEN"}
is_a: MONDO:0002742 {source="DOID:8338"} ! cervical mucinous adenocarcinoma
is_a: MONDO:0003204 {source="MONDO:Redundant", source="NCIT:C40208"} ! villous adenocarcinoma
is_a: MONDO:0005153 {source="DOID:8338/inferred", source="EFO:1000170", source="MONDO:Redundant", source="NCIT:C40208"} ! cervical adenocarcinoma
intersection_of: MONDO:0003204 ! villous adenocarcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0006142
name: cervical small cell carcinoma
def: "A small cell carcinoma arising from the cervix." [NCIT:C7982]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cervical small cell cancer" EXACT [NCIT:C7982]
synonym: "cervical small cell carcinoma" EXACT [NCIT:C7982]
synonym: "cervix small cell carcinoma" EXACT [MONDO:0003981, NCIT:C7982]
synonym: "cervix uteri small cell carcinoma" EXACT [NCIT:C7982]
synonym: "SCCE" RELATED ABBREVIATION [ONCOTREE:SCCE]
synonym: "small cell carcinoma of cervix" EXACT [NCIT:C7982]
synonym: "small cell carcinoma of cervix uteri" EXACT [NCIT:C7982]
synonym: "small cell carcinoma of the cervix" EXACT [DOID:6740, NCIT:C7982]
synonym: "small cell carcinoma of the cervix uteri" EXACT [DOID:6740, NCIT:C7982]
synonym: "small cell carcinoma of the uterine cervix" EXACT [NCIT:C7982]
synonym: "small cell carcinoma of uterine cervix" EXACT [NCIT:C7982]
synonym: "uterine cervix small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7982]
xref: DOID:6740 {source="MONDO:equivalentTo"}
xref: EFO:1000171 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7982 {source="DOID:6740", source="MONDO:equivalentTo", source="EFO:1000171"}
xref: ONCOTREE:SCCE {source="MONDO:equivalentTo"}
xref: UMLS:C0279674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79025"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="NCIT:C7982"} ! small cell carcinoma
is_a: MONDO:0005131 {source="DOID:6740", source="EFO:1000171", source="MONDO:Redundant", source="NCIT:C7982/inferred"} ! cervical carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0006143
name: cervical squamous cell carcinoma
def: "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." [NCIT:P378]
subset: gard_rare {source="GARD:20487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213767"}
subset: orphanet_rare {source="Orphanet:213767"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervical squamous cell cancer" EXACT [NCIT:C4028]
synonym: "cervical squamous cell carcinoma" EXACT [NCIT:C4028, Orphanet:213767]
synonym: "cervical squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C4028]
synonym: "cervical squamous cell carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4028]
synonym: "cervix squamous cell carcinoma" EXACT [NCIT:C4028]
synonym: "cervix uteri squamous cell carcinoma" EXACT [NCIT:C4028]
synonym: "CESC" RELATED ABBREVIATION [ONCOTREE:CESC]
synonym: "squamous cell carcinoma of cervix" EXACT [NCIT:C4028]
synonym: "squamous cell carcinoma of cervix uteri" EXACT [NCIT:C4028]
synonym: "squamous cell carcinoma of the cervix" EXACT [NCIT:C4028]
synonym: "squamous cell carcinoma of the cervix uteri" EXACT [DOID:3744, NCIT:C4028]
synonym: "squamous cell carcinoma of the uterine cervix" EXACT [NCIT:C4028]
synonym: "squamous cell carcinoma of uterine cervix" EXACT [NCIT:C4028]
synonym: "squamous cervical cancer" EXACT [NCIT:C4028]
synonym: "uterine cervix squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4028]
xref: DOID:3744 {source="EFO:1000172", source="MONDO:equivalentTo"}
xref: EFO:1000172 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20487 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213767", source="Orphanet:213767/btnt"}
xref: ICD10CM:C53.1 {source="Orphanet:213767", source="Orphanet:213767/btnt"}
xref: ICD10CM:C53.8 {source="Orphanet:213767", source="Orphanet:213767/btnt"}
xref: icd11.foundation:1544785014 {source="MONDO:equivalentTo", source="Orphanet:213767", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:124644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4028 {source="EFO:1000172", source="DOID:3744", source="MONDO:equivalentTo"}
xref: ONCOTREE:CESC {source="MONDO:equivalentTo"}
xref: Orphanet:213767 {source="MONDO:equivalentTo"}
xref: SCTID:254886006 {source="DOID:3744", source="MONDO:equivalentTo"}
xref: UMLS:C0279671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124644"}
is_a: MONDO:0002974 {source="Orphanet:213767"} ! cervical cancer
is_a: MONDO:0005096 {source="EFO:1000172", source="MONDO:Redundant", source="NCIT:C4028"} ! squamous cell carcinoma
is_a: MONDO:0005131 {source="DOID:3744", source="EFO:1000172", source="MONDO:Redundant", source="NCIT:C4028"} ! cervical carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0006144
name: cervical Wilms tumor
def: "An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." [NCIT:C40236]
synonym: "cervical Wilms tumor" EXACT [DOID:5190, NCIT:C40236]
synonym: "cervical Wilms' tumor" EXACT [NCIT:C40236]
synonym: "cervical Wilms' tumour" EXACT OMO:0003005 []
xref: DOID:5190 {source="MONDO:equivalentTo"}
xref: MEDGEN:273129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40236 {source="EFO:1000173", source="MONDO:equivalentTo", source="DOID:5190"}
xref: UMLS:C1516437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273129"}
is_a: MONDO:0002974 {source="DOID:5190/inferred", source="MONDO:Redundant", source="NCIT:C40236"} ! cervical cancer
is_a: MONDO:0006058 {source="EFO:1000173", source="MONDO:Redundant", source="NCIT:C40236"} ! Wilms tumor
intersection_of: MONDO:0006058 ! Wilms tumor
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: excluded_subClassOf MONDO:0002877 {source="DOID:5190", source="https://orcid.org/0000-0001-5208-3432"} ! cervical carcinosarcoma

[Term]
id: MONDO:0006145
name: chondroid chordoma
def: "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." [NCIT:C6902]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondroid chordoma" EXACT [MONDO:0002893]
synonym: "chondroid chordoma (morphologic abnormality)" EXACT [DOID:4152]
xref: DOID:4152 {source="MONDO:equivalentTo"}
xref: EFO:1000174 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9371/3 {source="NCIT:C6902"}
xref: MEDGEN:224768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6902 {source="EFO:1000174", source="MONDO:equivalentTo", source="DOID:4152"}
xref: SCTID:128784007 {source="DOID:4152"}
xref: UMLS:C1266173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224768"}
is_a: MONDO:0005564 {source="EFO:1000174", source="NCIT:C6902/inferred"} ! embryonal neoplasm
is_a: MONDO:0008978 {source="DOID:4152", source="NCIT:C6902"} ! chordoma
relationship: disease_has_feature HP:0010762 ! Chordoma

[Term]
id: MONDO:0006146
name: chondroid hamartoma
def: "A hamartoma that is characterized by the presence of chondroid elements." [NCIT:C42589]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000175 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:313028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42589 {source="EFO:1000175", source="MONDO:equivalentTo"}
xref: UMLS:C1707390 {source="MONDO:equivalentTo", source="MEDGEN:313028", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="NCIT:C42589"} ! hamartoma
relationship: excluded_subClassOf MONDO:0005070 {source="EFO:1000175", source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm

[Term]
id: MONDO:0006147
name: obsolete chronic eosinophilic leukemia, not otherwise specified
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4291" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015687

[Term]
id: MONDO:0006148
name: obsolete chronic neutrophilic leukemia
is_obsolete: true
replaced_by: MONDO:0019451

[Term]
id: MONDO:0006149
name: clear cell papillary cystadenoma
def: "A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." [NCIT:C65203]
subset: otar {source="MONDO:OTAR"}
synonym: "clear cell papillary cystadenoma" EXACT [NCIT:C65203]
xref: EFO:1000181 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8443/0 {source="NCIT:C65203"}
xref: MEDGEN:361270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C65203 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000181"}
xref: UMLS:C1880102 {source="MEDGEN:361270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021091 {source="NCIT:C65203"} ! papillary cystadenoma

[Term]
id: MONDO:0006150
name: colon Burkitt lymphoma
def: "A rare Burkitt lymphoma that arises from the colon." [NCIT:C27465]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Burkitt lymphoma of colon" EXACT []
synonym: "Burkitts lymphoma of colon" EXACT [MONDO:design_pattern]
synonym: "colon Burkitt lymphoma" EXACT [MONDO:patterns/location]
synonym: "colon Burkitt's lymphoma" EXACT [NCIT:C27465]
synonym: "colon Burkitts lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary colon Burkitt's lymphoma" EXACT [NCIT:C27465]
xref: MEDGEN:272491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27465 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000182"}
xref: UMLS:C1333083 {source="MEDGEN:272491", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002035 {source="MONDO:Redundant", source="NCIT:C27465/inferred"} ! colon lymphoma
is_a: MONDO:0007243 {source="EFO:1000182", source="MONDO:Redundant", source="NCIT:C27465/inferred"} ! Burkitt lymphoma
intersection_of: MONDO:0007243 ! Burkitt lymphoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0006151
name: colon dysplasia
def: "A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." [NCIT:P378]
comment: Editor notes: not in NCIT neoplas subset
subset: otar {source="MONDO:OTAR"}
synonym: "colonic dysplasia" EXACT [NCIT:C4847]
synonym: "dysplasia of colon" EXACT [NCIT:C4847]
synonym: "dysplasia of the colon" EXACT [NCIT:C4847]
xref: EFO:1000183 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:224903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4847 {source="EFO:1000183", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:308870004 {source="MONDO:equivalentTo"}
xref: UMLS:C1302363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224903"}
is_a: MONDO:0003409 {source="https://orcid.org/0000-0001-5208-3432"} ! colonic disorder
relationship: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0006152
name: colon inflammatory polyp
def: "A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "colonic inflammatory polyp" EXACT [NCIT:C5517]
synonym: "inflammatory polyp of colon" EXACT [NCIT:C5517]
synonym: "inflammatory polyp of the colon" EXACT [NCIT:C5517]
xref: EFO:1000184 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:78627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5517 {source="EFO:1000184", source="MONDO:equivalentTo"}
xref: UMLS:C0267392 {source="MEDGEN:78627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:1000184", source="MONDO:Redundant", source="NCIT:C5517/inferred"} ! polyp
is_a: MONDO:0005401 {source="EFO:1000184", source="MONDO:Redundant", source="MONDO:indirect"} ! colonic neoplasm
is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C5517"} ! polyp of colon
relationship: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0006153
name: colon juvenile polyp
def: "A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "colon retention polyp" EXACT [NCIT:C5518]
synonym: "colonic juvenile polyp" EXACT [NCIT:C5518]
synonym: "colonic retention polyp" EXACT [NCIT:C5518]
synonym: "juvenile polyp of colon" EXACT [NCIT:C5518]
synonym: "juvenile polyp of the colon" EXACT [NCIT:C5518]
synonym: "retention polyp of colon" EXACT [NCIT:C5518]
synonym: "retention polyp of the colon" EXACT [NCIT:C5518]
xref: EFO:1000185 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5518 {source="EFO:1000185", source="MONDO:equivalentTo"}
xref: UMLS:C1333090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234160"}
is_a: MONDO:0005079 {source="EFO:1000185", source="MONDO:Redundant", source="NCIT:C5518/inferred"} ! polyp
is_a: MONDO:0006161 {source="NCIT:C5518"} ! colorectal juvenile polyp
is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C5518"} ! polyp of colon
relationship: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0006154
name: colon mucosa-associated lymphoid tissue lymphoma
def: "An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." [NCIT:C5498]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colon MALT lymphoma" EXACT [NCIT:C5498]
synonym: "colon MALToma" EXACT [NCIT:C5498]
synonym: "colonic MALT lymphoma" EXACT [NCIT:C5498]
synonym: "colonic MALToma" EXACT [NCIT:C5498]
synonym: "colonic mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5498]
synonym: "MALT lymphoma of colon" EXACT [NCIT:C5498]
synonym: "MALT lymphoma of the colon" EXACT [NCIT:C5498]
synonym: "MALToma of colon" EXACT [NCIT:C5498]
synonym: "MALToma of the colon" EXACT [NCIT:C5498]
xref: EFO:1000186 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5498 {source="EFO:1000186", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333096 {source="MEDGEN:272492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002035 {source="NCIT:C5498/inferred"} ! colon lymphoma
relationship: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0006155
name: colon neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5497]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid tumor of colon" EXACT [NCIT:C5497]
synonym: "carcinoid tumor of the colon" EXACT [NCIT:C5497]
synonym: "carcinoid tumour of colon" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the colon" EXACT OMO:0003005 []
synonym: "colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497]
synonym: "colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "colon carcinoid tumour" EXACT OMO:0003005 []
synonym: "colon carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497]
synonym: "colon neuroendocrine neoplasm G1" EXACT []
synonym: "colon neuroendocrine tumor G1" EXACT [NCIT:C5497]
synonym: "colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "colonic carcinoid tumor" EXACT [NCIT:C5497]
synonym: "colonic carcinoid tumour" EXACT OMO:0003005 []
synonym: "grade 1 neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000188 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5497 {source="EFO:1000188", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333084 {source="MONDO:equivalentTo", source="MEDGEN:234158", source="MONDO:MEDGEN"}
is_a: MONDO:0002882 {source="MONDO:0006155/inferred", source="MONDO:Redundant", source="NCIT:C5497/inferred"} ! colon neuroendocrine neoplasm
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C5497/inferred"} ! colonic neoplasm
is_a: MONDO:0006162 {source="MONDO:Redundant", source="NCIT:C5497"} ! colorectal neuroendocrine tumor G1
is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C5497/inferred"} ! intestinal neuroendocrine tumor G1
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001155 ! colon
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system
relationship: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0006156
name: colon sessile serrated adenoma/polyp
def: "A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." [NCIT:C96464]
subset: otar {source="MONDO:OTAR"}
synonym: "colon sessile serrated adenoma" EXACT [NCIT:C96464]
synonym: "colon sessile serrated adenoma/polyp" EXACT [NCIT:C96464]
synonym: "colon sessile serrated polyp" EXACT [NCIT:C96464]
synonym: "colon SSA" EXACT [NCIT:C96464]
synonym: "colon SSA/P" EXACT [NCIT:C96464]
synonym: "colon SSP" EXACT [NCIT:C96464]
xref: EFO:1000189 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:474424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96464 {source="MONDO:equivalentTo", source="EFO:1000189", source="MONDO:exact-label-match"}
xref: UMLS:C3272791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474424"}
is_a: MONDO:0000527 {source="MONDO:Redundant", source="NCIT:C96464"} ! colon adenoma
is_a: MONDO:0005079 {source="EFO:1000189", source="MONDO:Redundant", source="NCIT:C96464/inferred"} ! polyp
is_a: MONDO:0006164 {source="NCIT:C96464"} ! colorectal sessile serrated adenoma/polyp
is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C96464"} ! polyp of colon
relationship: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0006157
name: colorectal adenosquamous carcinoma
def: "An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:C43589]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal (colon or rectal) adenosquamous cancer" EXACT [NCIT:C43589]
synonym: "colorectal adenosquamous cancer" EXACT [NCIT:C43589]
synonym: "colorectal adenosquamous carcinoma" EXACT [NCIT:C43589]
synonym: "colorectum adenosquamous carcinoma" EXACT [MONDO:patterns/location]
xref: EFO:1000190 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:317524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43589 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000190"}
xref: UMLS:C1707437 {source="MEDGEN:317524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006074 {source="MONDO:Redundant", source="NCIT:C43589"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0006158
name: colorectal diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that arises from the colon or rectum." [NCIT:C96503]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colorectal diffuse large B-cell lymphoma" EXACT [NCIT:C96503]
synonym: "colorectal DLBCL" EXACT [NCIT:C96503]
synonym: "colorectum diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location]
synonym: "diffuse large B-cell lymphoma of colorectum" EXACT [MONDO:design_pattern]
xref: EFO:1000191 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:474460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96503 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000191"}
xref: UMLS:C3272827 {source="MEDGEN:474460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004699 {source="MONDO:Entailed", source="NCIT:C96503/inferred"} ! gastrointestinal lymphoma
is_a: MONDO:0005335 {source="EFO:1000191", source="MONDO:Redundant", source="NCIT:C96503/inferred"} ! colorectal neoplasm
is_a: MONDO:0005575 {source="MONDO:Entailed", source="NCIT:C96503/inferred"} ! colorectal cancer
is_a: MONDO:0018905 {source="EFO:1000191", source="MONDO:Redundant", source="NCIT:C96503"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma
intersection_of: disease_has_location UBERON:0012652 ! colorectum
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0006159
name: colorectal gastrointestinal stromal tumor
def: "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." [NCIT:C27735]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735]
synonym: "colorectal (colon or rectal) gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 []
synonym: "colorectal gastrointestinal stromal tumor" EXACT [NCIT:C27735]
synonym: "colorectal gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735]
synonym: "colorectal gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 []
synonym: "colorectal gist" EXACT [NCIT:C27735]
xref: EFO:1000192 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27735 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000192"}
xref: UMLS:C1333109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272496"}
is_a: MONDO:0005335 {source="EFO:1000192", source="NCIT:C27735"} ! colorectal neoplasm
relationship: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0006160
name: colorectal hamartoma
def: "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." [NCIT:C96474]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal hamartoma" EXACT [NCIT:C96474]
synonym: "colorectum hamartoma (disease)" EXACT [MONDO:patterns/location]
synonym: "large intestinal hamartoma" EXACT [NCIT:C96474]
xref: EFO:1000193 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:474434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96474 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000193"}
xref: UMLS:C3272801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474434"}
is_a: MONDO:0005079 {source="EFO:1000193", source="MONDO:Redundant", source="NCIT:C96474/inferred"} ! polyp
is_a: MONDO:0006231 {source="NCIT:C96474"} ! gastrointestinal hamartoma
is_a: MONDO:0006499 {source="MONDO:Entailed", source="NCIT:C96474/inferred"} ! hamartoma
is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C96474"} ! polyp of large intestine
intersection_of: MONDO:0006499 ! hamartoma
intersection_of: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0006161
name: colorectal juvenile polyp
def: "A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal retention polyp" EXACT [NCIT:C5681]
synonym: "juvenile polyp of large bowel" EXACT [NCIT:C5681]
synonym: "juvenile polyp of the large bowel" EXACT [NCIT:C5681]
synonym: "large bowel juvenile polyp" EXACT [NCIT:C5681]
synonym: "large intestinal juvenile polyp" EXACT [NCIT:C5681]
xref: EFO:1000194 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5681 {source="EFO:1000194", source="MONDO:equivalentTo"}
xref: UMLS:C1377708 {source="MEDGEN:235116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:1000194", source="MONDO:Redundant", source="NCIT:C5681/inferred"} ! polyp
is_a: MONDO:0005335 {source="EFO:1000194", source="MONDO:Redundant", source="MONDO:indirect"} ! colorectal neoplasm
is_a: MONDO:0006160 {source="MONDO:Redundant", source="NCIT:C5681"} ! colorectal hamartoma
is_a: MONDO:0006258 {source="NCIT:C5681"} ! juvenile polyp
is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C5681/inferred"} ! polyp of large intestine
relationship: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0006162
name: colorectal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C96160]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colorectal carcinoid tumor" EXACT [NCIT:C96160]
synonym: "colorectal carcinoid tumour" EXACT OMO:0003005 []
synonym: "colorectal NET G1" EXACT [NCIT:C96160]
synonym: "colorectal neuroendocrine tumor G1" EXACT [NCIT:C96160]
synonym: "colorectum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "colorectum carcinoid tumour" EXACT OMO:0003005 []
synonym: "colorectum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "colorectum neuroendocrine neoplasm G1" EXACT []
synonym: "colorectum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "grade 1 neuroendocrine neoplasm of colorectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "large intestinal neuroendocrine tumor G1" EXACT [NCIT:C96160]
synonym: "large intestinal neuroendocrine tumour G1" EXACT OMO:0003005 []
xref: EFO:1000195 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:474244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96160 {source="EFO:1000195", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C3272611 {source="MONDO:equivalentTo", source="MEDGEN:474244", source="MONDO:MEDGEN"}
is_a: MONDO:0005335 {source="EFO:1000195", source="MONDO:Redundant", source="NCIT:C96160/inferred"} ! colorectal neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0012652 ! colorectum
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system
relationship: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0006163
name: colorectal serrated adenocarcinoma
def: "A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." [NCIT:C96485]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal serrated adenocarcinoma" EXACT [NCIT:C96485]
xref: EFO:1000196 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8213/3 {source="NCIT:C96485"}
xref: MEDGEN:474442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96485 {source="EFO:1000196", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C3272809 {source="MONDO:equivalentTo", source="MEDGEN:474442", source="MONDO:MEDGEN"}
is_a: MONDO:0005008 {source="EFO:1000196", source="NCIT:C96485"} ! colorectal adenocarcinoma
relationship: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0006164
name: colorectal sessile serrated adenoma/polyp
def: "A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." [NCIT:C83176]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal mixed hyperplastic adenomatous polyp" EXACT [NCIT:C83176]
synonym: "colorectal mixed hyperplastic adenomatous polyp/serrated adenoma" EXACT [NCIT:C83176]
synonym: "colorectal sessile serrated adenoma" EXACT [NCIT:C83176]
synonym: "colorectal sessile serrated adenoma/polyp" EXACT [NCIT:C83176]
synonym: "colorectal sessile serrated polyp" EXACT [NCIT:C83176]
synonym: "colorectal SSA" EXACT [NCIT:C83176]
synonym: "colorectal SSA/P" EXACT [NCIT:C83176]
synonym: "colorectal SSP" EXACT [NCIT:C83176]
xref: EFO:1000197 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:415420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C83176 {source="EFO:1000197", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C2826783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:415420"}
is_a: MONDO:0005484 {source="EFO:1000197", source="NCIT:C83176"} ! colorectal adenoma
relationship: disease_has_location UBERON:0012652 {source="NCIT:C83176"} ! colorectum

[Term]
id: MONDO:0006165
name: colorectal squamous cell carcinoma
def: "A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." [NCIT:C43588]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal (colon or rectal) squamous cell cancer" EXACT [NCIT:C43588]
synonym: "colorectal squamous cell cancer" EXACT [NCIT:C43588]
synonym: "colorectal squamous cell carcinoma" EXACT [NCIT:C43588]
synonym: "colorectum squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: EFO:1000198 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:317527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43588 {source="EFO:1000198", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1707442 {source="MONDO:equivalentTo", source="MEDGEN:317527", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="EFO:1000198", source="MONDO:Redundant", source="NCIT:C43588"} ! squamous cell carcinoma
is_a: MONDO:0005575 {source="MONDO:Redundant", source="NCIT:C43588", source="NCIT:C43588/inferred"} ! colorectal cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C43588/inferred"} ! digestive system carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0006166
name: columnar cell hyperplasia of the breast
def: "A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "CCH" EXACT ABBREVIATION [NCIT:C54183]
synonym: "columnar cell hyperplasia of breast" EXACT [NCIT:C54183]
xref: EFO:1000199 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:310623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54183 {source="EFO:1000199", source="MONDO:equivalentTo"}
xref: UMLS:C1707446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:310623"}
is_a: MONDO:0005043 {source="EFO:1000199", source="NCIT:C54183/inferred"} ! hyperplasia

[Term]
id: MONDO:0006167
name: combined lung carcinoma
def: "A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." [NCIT:C7591]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined carcinoma of lung" EXACT [NCIT:C7591]
synonym: "combined carcinoma of the lung" EXACT [NCIT:C7591]
synonym: "combined lung cancer" EXACT [NCIT:C7591]
synonym: "combined lung carcinoma" EXACT [NCIT:C7591]
xref: EFO:1000200 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7591 {source="MONDO:equivalentTo", source="EFO:1000200", source="MONDO:exact-label-match"}
xref: UMLS:C1333123 {source="MEDGEN:234166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002120 {source="MONDO:Redundant", source="NCIT:C7591"} ! neuroendocrine carcinoma
is_a: MONDO:0005138 {source="EFO:1000200", source="MONDO:Redundant", source="NCIT:C7591"} ! lung carcinoma
is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C7591/inferred"} ! lung neuroendocrine neoplasm
is_a: MONDO:0005853 {source="NCIT:C7591"} ! malignant mixed neoplasm

[Term]
id: MONDO:0006168
name: obsolete common hematopoietic neoplasm
comment: Obsoleted in NCIt
xref: NCIT:C7588 {source="EFO:1000201", source="MONDO:otherHierarchy"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2104" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0006169
name: complex endometrial hyperplasia
def: "A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000202 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:621.32 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:83889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35423 {source="MONDO:equivalentTo", source="EFO:1000202"}
xref: SCTID:198322002 {source="MONDO:equivalentTo"}
xref: UMLS:C0349578 {source="MEDGEN:83889", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005043 {source="EFO:1000202", source="NCIT:C35423/inferred"} ! hyperplasia

[Term]
id: MONDO:0006170
name: conjunctival disorder
def: "Any disorder of the conjunctiva." [NCIT:C27605]
subset: otar {source="MONDO:OTAR"}
synonym: "conjunctiva disease" EXACT [MONDO:patterns/location]
synonym: "conjunctiva disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "conjunctival disease" EXACT [NCIT:C27605]
synonym: "conjunctival disorder" EXACT [NCIT:C27605]
synonym: "disease of conjunctiva" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of conjunctiva" EXACT []
synonym: "disorder of conjunctiva" EXACT [MONDO:patterns/location_top]
xref: DOID:4251 {source="MONDO:equivalentTo"}
xref: EFO:1000203 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H10-H11 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:3207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27605 {source="MONDO:equivalentTo", source="EFO:1000203"}
xref: UMLS:C0009759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3207"}
is_a: MONDO:0005328 {source="EFO:1000203", source="NCIT:C27605"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0006171
name: obsolete conjunctival melanoma
is_obsolete: true
replaced_by: MONDO:0002096

[Term]
id: MONDO:0006172
name: conjunctival nevus
def: "A benign melanocytic neoplasm that arises from the conjunctiva." [NCIT:C4551]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "conjunctival nevus" EXACT [NCIT:C4551]
synonym: "Nevus of conjunctiva" EXACT [NCIT:C4551]
synonym: "Nevus of the conjunctiva" EXACT [NCIT:C4551]
xref: DOID:0050906 {source="MONDO:equivalentTo"}
xref: EFO:1000205 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4551 {source="MONDO:equivalentTo", source="EFO:1000205", source="MONDO:exact-label-match"}
xref: SCTID:255006004 {source="MONDO:equivalentTo"}
xref: UMLS:C0346363 {source="MEDGEN:83422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000633 {source="DOID:0050906", source="MONDO:Redundant", source="MONDO:indirect"} ! sensory organ benign neoplasm
is_a: MONDO:0005073 {source="EFO:1000205", source="MONDO:Redundant", source="NCIT:C4551"} ! melanocytic nevus
is_a: MONDO:0020204 {source="MONDO:Redundant", source="NCIT:C4551"} ! conjunctival tumor

[Term]
id: MONDO:0006173
name: conjunctival squamous cell carcinoma
def: "A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." [NCIT:C4549]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "conjunctiva epidermoid carcinoma" EXACT [NCIT:C4549]
synonym: "conjunctiva squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4549]
synonym: "conjunctival epidermoid carcinoma" EXACT [DOID:1748, NCIT:C4549]
synonym: "conjunctival squamous cell cancer" EXACT [NCIT:C4549]
synonym: "conjunctival squamous cell carcinoma" EXACT [NCIT:C4549]
synonym: "epidermoid carcinoma of conjunctiva" EXACT [NCIT:C4549]
synonym: "epidermoid carcinoma of the conjunctiva" EXACT [NCIT:C4549]
synonym: "invasive squamous cell carcinoma of the conjunctiva" EXACT [DOID:1748]
synonym: "ocular surface squamous neoplasia" BROAD [DOID:1748]
synonym: "squamous cell carcinoma of conjunctiva" EXACT [DOID:1748, NCIT:C4549]
synonym: "squamous cell carcinoma of the conjunctiva" EXACT [NCIT:C4549]
xref: DOID:1748 {source="MONDO:equivalentTo"}
xref: EFO:1000206 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:87558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4549 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1748", source="EFO:1000206"}
xref: SCTID:255003007 {source="MONDO:equivalentTo", source="DOID:1748"}
xref: UMLS:C0346359 {source="MEDGEN:87558", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002466 {source="MONDO:Redundant", source="NCIT:C4549"} ! eye carcinoma
is_a: MONDO:0003454 {source="DOID:1748", source="MONDO:Redundant", source="NCIT:C4549"} ! conjunctival cancer
is_a: MONDO:0005096 {source="DOID:1748", source="EFO:1000206", source="MONDO:Redundant", source="NCIT:C4549"} ! squamous cell carcinoma
is_a: MONDO:0010150 {source="MONDO:Redundant"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0006174
name: cortisol-producing adrenal cortex adenoma
def: "An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." [NCIT:C48449]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cortisol producing adrenal cortex adenoma" EXACT [NCIT:C48449]
synonym: "cortisol producing adrenal cortical adenoma" EXACT [NCIT:C48449]
synonym: "cortisol-producing adrenal cortex adenoma" EXACT [NCIT:C48449]
xref: EFO:1000208 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:353568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C48449 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000208"}
xref: UMLS:C1707525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:353568"}
is_a: MONDO:0003924 {source="MONDO:Redundant", source="NCIT:C48449"} ! adrenal cortex adenoma
intersection_of: MONDO:0003924 ! adrenal cortex adenoma
intersection_of: realized_in GO:0043400 ! cortisol secretion
relationship: disease_has_location UBERON:0001235 ! adrenal cortex

[Term]
id: MONDO:0006175
name: obsolete craniopharyngioma
is_obsolete: true
replaced_by: MONDO:0018907

[Term]
id: MONDO:0006176
name: cribriform carcinoma
def: "A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." [NCIT:C3680]
subset: otar {source="MONDO:OTAR"}
synonym: "cribriform carcinoma" EXACT [NCIT:C3680]
xref: EFO:1000210 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8201/3 {source="NCIT:C3680"}
xref: MEDGEN:104694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3680 {source="EFO:1000210", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0205643 {source="MEDGEN:104694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="EFO:1000210", source="MONDO:Redundant", source="NCIT:C3680"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_feature NCIT:C35920 ! Cribriform Pattern

[Term]
id: MONDO:0006177
name: obsolete cutaneous undifferentiated pleomorphic sarcoma
is_obsolete: true
replaced_by: MONDO:0002141

[Term]
id: MONDO:0006178
name: dedifferentiated solitary fibrous tumor
def: "A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." [NCIT:C79948]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:1000214 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:396654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C79948 {source="MONDO:equivalentTo", source="EFO:1000214", source="MONDO:exact-label-match"}
xref: UMLS:C2699572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396654"}
is_a: MONDO:0016238 {source="NCIT:C79948/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! solitary fibrous tumor

[Term]
id: MONDO:0006179
name: desmoplastic ameloblastoma
def: "An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." [NCIT:C39758]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "desmoplastic ameloblastoma" EXACT [NCIT:C39758]
xref: EFO:1000215 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:105345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39758 {source="MONDO:equivalentTo", source="EFO:1000215"}
xref: UMLS:C0457533 {source="MEDGEN:105345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000215", source="MONDO:Redundant", source="NCIT:C39758/inferred"} ! neoplasm
is_a: MONDO:0017795 {source="NCIT:C39758"} ! ameloblastoma

[Term]
id: MONDO:0006180
name: digestive system adenoma
def: "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." [NCIT:C36207]
subset: otar {source="MONDO:OTAR"}
synonym: "digestive system adenoma" EXACT [NCIT:C36207]
synonym: "digestive tract adenoma" EXACT [MONDO:patterns/location]
synonym: "gastrointestinal adenoma" EXACT [MONDO:0002890, NCIT:C36207]
synonym: "GI adenoma" EXACT [DOID:4147, NCIT:C36207]
xref: DOID:4147 {source="MONDO:equivalentTo"}
xref: EFO:1000217 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:184920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36207 {source="DOID:4147", source="MONDO:equivalentTo", source="EFO:1000217"}
xref: UMLS:C0948101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:184920"}
is_a: MONDO:0004972 {source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! adenoma
is_a: MONDO:0021223 {source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! digestive system neoplasm
intersection_of: MONDO:0004972 {source="NCIT:C36207"} ! adenoma
intersection_of: disease_has_location UBERON:0001555 {source="NCIT:C36207"} ! digestive tract
relationship: disease_arises_from_structure UBERON:0006799 {source="NCIT:C36207"} ! glandular epithelium
relationship: excluded_subClassOf MONDO:0002516 {source="DOID:4147", source="https://orcid.org/0000-0001-5208-3432"} ! digestive system cancer

[Term]
id: MONDO:0006181
name: digestive system carcinoma
def: "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." [NCIT:C96963]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of digestive system" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the gastrointestinal system" EXACT [NCIT:C96963]
synonym: "digestive system carcinoma" EXACT [NCIT:C96963]
synonym: "gastrointestinal carcinoma" EXACT [MONDO:ambiguous]
synonym: "gastrointestinal carcinoma (disease)" EXACT [MONDO:0000537]
synonym: "gastrointestinal system carcinoma" EXACT [NCIT:C96963]
xref: DOID:0050922 {source="MONDO:equivalentTo"}
xref: EFO:1000218 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002672 {source="MONDO:otherHierarchy"}
xref: MEDGEN:57467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96963 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000218"}
xref: UMLS:C0151544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57467"}
is_a: MONDO:0002516 {source="DOID:0050922", source="MONDO:Redundant", source="NCIT:C96963"} ! digestive system cancer
is_a: MONDO:0004993 {source="EFO:1000218", source="MONDO:Redundant", source="NCIT:C96963"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001007 ! digestive system

[Term]
id: MONDO:0006182
name: digestive system mixed adenoneuroendocrine carcinoma
def: "A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." [NCIT:C95406]
subset: otar {source="MONDO:OTAR"}
synonym: "digestive system Mixed Adenoneuroendocrine cancer" EXACT [NCIT:C95406]
synonym: "digestive system mixed adenoneuroendocrine carcinoma" EXACT [NCIT:C95406]
synonym: "gastrointestinal MANEC" EXACT [NCIT:C95406]
synonym: "gastrointestinal mixed Adenoneuroendocrine carcinoma" EXACT [NCIT:C95406]
synonym: "MANEC" EXACT ABBREVIATION [NCIT:C95406]
synonym: "mixed Adenoneuroendocrine carcinoma" EXACT [NCIT:C95406]
xref: EFO:1000219 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8244/3 {source="NCIT:C95406"}
xref: MEDGEN:459355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95406 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000219"}
xref: UMLS:C2987129 {source="MEDGEN:459355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="EFO:1000219", source="MONDO:Redundant", source="NCIT:C95406/inferred"} ! carcinoma
is_a: MONDO:0006181 {source="NCIT:C95406"} ! digestive system carcinoma

[Term]
id: MONDO:0006183
name: disseminated peritoneal leiomyomatosis
def: "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." [NCIT:C3958]
subset: gard_rare {source="GARD:12843", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71274"}
subset: orphanet_rare {source="Orphanet:71274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse peritoneal leiomyomatosis" EXACT [MONDO:0003613, NCIT:C3958, Orphanet:71274]
synonym: "disseminated peritoneal leiomyomatosis" EXACT [NCIT:C3958]
synonym: "DPL" EXACT ABBREVIATION [Orphanet:71274]
synonym: "leiomyomatosis peritonealis disseminata" EXACT [NCIT:C3958]
synonym: "leiomyomatosis peritonealis disseminate" EXACT [Orphanet:71274]
synonym: "LPD" EXACT ABBREVIATION [Orphanet:71274]
xref: DOID:5728 {source="MONDO:equivalentTo"}
xref: EFO:1000220 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12843 {source="MONDO:GARD"}
xref: ICD10CM:D20.1 {source="Orphanet:71274", source="Orphanet:71274/ntbt"}
xref: MEDGEN:78634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3958 {source="EFO:1000220", source="MONDO:equivalentTo", source="DOID:5728"}
xref: Orphanet:71274 {source="MONDO:equivalentTo"}
xref: SCTID:62557001 {source="MONDO:equivalentTo", source="DOID:5728"}
xref: SCTID:703634007 {source="DOID:5728"}
xref: UMLS:C0267785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78634"}
is_a: MONDO:0000650 {source="NCIT:C3958"} ! peritoneal benign neoplasm
is_a: MONDO:0003295 {source="DOID:5728", source="NCIT:C3958"} ! leiomyomatosis
relationship: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0006184
name: ductal breast carcinoma in situ and lobular carcinoma in situ
def: "The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." [NCIT:C4195]
subset: otar {source="MONDO:OTAR"}
synonym: "DCIS and LCIS of breast" EXACT [NCIT:C4195]
synonym: "DCIS and LCIS of the breast" EXACT [NCIT:C4195]
synonym: "ductal and lobular breast carcinoma in situ" EXACT [NCIT:C4195]
synonym: "ductal and lobular carcinoma in situ of breast" EXACT [NCIT:C4195]
synonym: "ductal and lobular carcinoma in situ of the breast" EXACT [NCIT:C4195]
synonym: "ductal carcinoma in situ with lobular carcinoma in situ of breast" EXACT [NCIT:C4195]
synonym: "ductal carcinoma in situ with lobular carcinoma in situ of the breast" EXACT [NCIT:C4195]
synonym: "intraductal and lobular breast carcinoma in situ" EXACT [NCIT:C4195]
synonym: "intraductal and lobular carcinoma in situ of breast" EXACT [NCIT:C4195]
synonym: "intraductal and lobular carcinoma in situ of the breast" EXACT [NCIT:C4195]
synonym: "intraductal carcinoma and lobular carcinoma in situ" EXACT [NCIT:C4195]
synonym: "non-infiltrating ductal and non-infiltrating lobular breast carcinoma" EXACT [NCIT:C4195]
synonym: "non-infiltrating ductal with non-infiltrating lobular carcinoma of breast" EXACT [NCIT:C4195]
synonym: "non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast" EXACT [NCIT:C4195]
synonym: "non-invasive ductal and non-invasive lobular breast carcinoma" EXACT [NCIT:C4195]
synonym: "non-invasive ductal and non-invasive lobular carcinoma" EXACT [NCIT:C4195]
synonym: "non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma" EXACT [NCIT:C4195]
synonym: "non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast" EXACT [NCIT:C4195]
synonym: "non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast" EXACT [NCIT:C4195]
synonym: "non-invasive ductal with non-invasive lobular breast carcinoma" EXACT [NCIT:C4195]
xref: EFO:1000221 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8522/2 {source="NCIT:C4195"}
xref: MEDGEN:83137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4195 {source="EFO:1000221", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0334383 {source="MEDGEN:83137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004658 {source="NCIT:C4195"} ! breast carcinoma in situ
relationship: excluded_subClassOf MONDO:0005590 {source="EFO:1000221", source="https://orcid.org/0000-0001-5208-3432"} ! breast ductal adenocarcinoma
relationship: has_characteristic PATO:0002132 ! neoplastic, non-invasive

[Term]
id: MONDO:0006185
name: obsolete ductal or ductular proliferation
def: "OBSOLETE. A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver." [NCIT:P378]
xref: NCIT:C111786 {source="MONDO:otherHierarchy", source="EFO:1000222"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeBiologicalProcess"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: MONDO:0005070

[Term]
id: MONDO:0006186
name: duodenal adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the duodenum." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of duodenum" EXACT [DOID:10816, NCIT:C7889]
synonym: "adenocarcinoma of the duodenum" EXACT [NCIT:C7889]
synonym: "duodenal adenocarcinoma" EXACT [DOID:10816, NCIT:C7889]
synonym: "duodenum adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:10816 {source="MONDO:equivalentTo"}
xref: EFO:1000223 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:82985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7889 {source="EFO:1000223", source="MONDO:equivalentTo", source="DOID:10816", source="MONDO:exact-label-match"}
xref: ONCOTREE:DA {source="MONDO:equivalentTo"}
xref: SCTID:408644002 {source="MONDO:equivalentTo", source="DOID:10816"}
xref: UMLS:C0278804 {source="MEDGEN:82985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000920 {source="DOID:10816", source="MONDO:Redundant", source="NCIT:C7889/inferred"} ! duodenum cancer
is_a: MONDO:0003198 {source="DOID:10816", source="EFO:1000223", source="MONDO:Redundant", source="NCIT:C7889"} ! small intestine adenocarcinoma
is_a: MONDO:0021335 {source="MONDO:Redundant", source="NCIT:C7889"} ! carcinoma of duodenum
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0006187
name: duodenal villous adenoma
def: "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C5338]
subset: otar {source="MONDO:OTAR"}
synonym: "duodenal villous adenoma" EXACT [NCIT:C5338]
synonym: "duodenum adenoma" RELATED [DOID:0050927]
synonym: "duodenum villous adenoma" EXACT [MONDO:patterns/location]
synonym: "villous adenoma of duodenum" EXACT [NCIT:C5338]
synonym: "villous adenoma of the duodenum" EXACT [NCIT:C5338]
synonym: "villous adenoma, duodenum" EXACT [NCIT:C5338]
xref: DOID:0050927 {source="MONDO:equivalentTo"}
xref: EFO:1000225 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5338 {source="MONDO:equivalentTo", source="EFO:1000225", source="MONDO:exact-label-match"}
xref: UMLS:C1333322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232438"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! villous adenoma
is_a: MONDO:0006180 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! digestive system adenoma
is_a: MONDO:0021303 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! adenoma of small intestine
is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C5338/inferred"} ! tumor of duodenum
intersection_of: MONDO:0000502 ! villous adenoma
intersection_of: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0006188
name: EBV-positive T-cell lymphoproliferative disorder of childhood
def: "An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma." [NCIT:C80373]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [NCIT:C80373]
synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [NCIT:C80373]
xref: MEDGEN:397515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80373 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000228"}
xref: UMLS:C2699838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:397515"}
is_a: MONDO:0005169 {source="NCIT:C80373"} ! neoplasm of mature T-cells or NK-cells
relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell
relationship: excluded_subClassOf MONDO:0005062 {source="EFO:1000228", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoma

[Term]
id: MONDO:0006189
name: eccrine porocarcinoma
def: "A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." [NCIT:C5560]
subset: otar {source="MONDO:OTAR"}
synonym: "eccrine porocarcinoma" EXACT [NCIT:C5560]
synonym: "eccrine porocarcinoma of skin" RELATED [GARD:0007431]
synonym: "epidermotropic eccrine carcinoma" EXACT [NCIT:C5560]
synonym: "malignant eccrine poroma" EXACT [DOID:7566, NCIT:C5560]
synonym: "porocarcinoma" EXACT [DOID:7566]
synonym: "porocarcinoma/spiroadenocarcinoma" RELATED [ONCOTREE:POCA]
xref: DOID:7566 {source="MONDO:equivalentTo"}
xref: EFO:1000229 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8409/3 {source="NCIT:C5560"}
xref: MEDGEN:266098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057090 {source="DOID:7566", source="MONDO:equivalentTo"}
xref: NCIT:C5560 {source="DOID:7566", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000229"}
xref: ONCOTREE:POCA {source="MONDO:equivalentTo"}
xref: SCTID:128685001 {source="DOID:7566"}
xref: SCTID:254708001 {source="DOID:7566", source="MONDO:equivalentTo"}
xref: UMLS:C1266065 {source="MEDGEN:266098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005506 {source="DOID:7566", source="MONDO:Redundant", source="NCIT:C5560/inferred"} ! eccrine sweat gland cancer
is_a: MONDO:0005524 {source="EFO:1000229", source="MONDO:Redundant", source="NCIT:C5560/inferred"} ! sweat gland carcinoma
is_a: MONDO:0024240 {source="MONDO:Redundant", source="NCIT:C5560"} ! eccrine carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma" xsd:anyURI {source="GARD:0007431"}

[Term]
id: MONDO:0006190
name: endolymphatic sac tumor
def: "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "aggressive papillary tumor of the temporal bone" EXACT [NCIT:C67560]
synonym: "aggressive papillary tumour of the temporal bone" EXACT OMO:0003005 []
synonym: "ELST" EXACT ABBREVIATION [NCIT:C67560]
synonym: "endolymphatic sac neoplasm" EXACT []
synonym: "endolymphatic sac neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endolymphatic sac tumor" EXACT [MONDO:ambiguous, MONDO:patterns/neoplasm, NCIT:C67560]
synonym: "endolymphatic sac tumor (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "endolymphatic sac tumour (disease)" EXACT OMO:0003005 []
synonym: "neoplasm of endolymphatic sac" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of endolymphatic sac" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of endolymphatic sac" EXACT OMO:0003005 []
xref: EFO:1000230 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0030393 {source="MONDO:otherHierarchy"}
xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8260/1 {source="NCIT:C67560"}
xref: MEDGEN:389657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C67560 {source="EFO:1000230", source="MONDO:equivalentTo"}
xref: SCTID:699817008 {source="MONDO:equivalentTo"}
xref: UMLS:C2348239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:389657"}
is_a: MONDO:0005070 {source="EFO:1000230", source="MONDO:Redundant", source="NCIT:C67560/inferred"} ! neoplasm
is_a: MONDO:0021096 {source="NCIT:C67560"} ! papillary epithelial neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002223 ! endolymphatic sac
property_value: IAO:0000589 "endolymphatic sac tumor (disease)" xsd:string

[Term]
id: MONDO:0006191
name: endometrial clear cell adenocarcinoma
def: "A clear cell adenocarcinoma that involves the endometrium." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "clear cell carcinoma of endometrium" EXACT [DOID:5299, NCIT:C8028]
synonym: "clear cell carcinoma of the endometrium" EXACT [NCIT:C8028]
synonym: "endometrial clear cell adenocarcinoma" EXACT [MONDO:0003380, NCIT:C8028]
synonym: "endometrium clear cell adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5299 {source="MONDO:equivalentTo"}
xref: EFO:1000231 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:124655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8028 {source="DOID:5299", source="EFO:1000231", source="MONDO:equivalentTo"}
xref: UMLS:C0279765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124655"}
is_a: MONDO:0005004 {source="EFO:1000231", source="MONDO:Redundant", source="NCIT:C8028"} ! clear cell adenocarcinoma
is_a: MONDO:0005461 {source="DOID:5299", source="EFO:1000231", source="MONDO:Redundant", source="NCIT:C8028/inferred"} ! endometrium adenocarcinoma
intersection_of: MONDO:0005004 ! clear cell adenocarcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0006192
name: endometrial endometrioid adenocarcinoma
def: "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." [NCIT:C6287]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial endometrioid adenocarcinoma" EXACT [NCIT:C6287]
synonym: "endometrioid adenocarcinoma of endometrium" EXACT [NCIT:C6287]
synonym: "endometrioid adenocarcinoma of the endometrium" EXACT [NCIT:C6287]
synonym: "endometrioid carcinoma of endometrium" EXACT [NCIT:C6287]
synonym: "endometrioid carcinoma of the endometrium" EXACT [NCIT:C6287]
synonym: "endometrioid endomet. adenocar." EXACT [NCIT:C6287]
synonym: "endometrioid endometrial adenocarcinoma" EXACT [NCIT:C6287]
synonym: "uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C6287]
synonym: "uterine corpus endometrioid carcinoma" EXACT [NCIT:C6287]
synonym: "uterine endometrioid carcinoma" RELATED [ONCOTREE:UEC]
xref: EFO:1000233 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6287 {source="MONDO:equivalentTo", source="EFO:1000233"}
xref: ONCOTREE:UEC {source="MONDO:equivalentTo"}
xref: UMLS:C1336905 {source="MEDGEN:234467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="EFO:1000233", source="MONDO:0006192/inferred", source="MONDO:Redundant", source="NCIT:C6287/inferred"} ! adenocarcinoma
is_a: MONDO:0005026 {source="NCIT:C6287"} ! endometrioid adenocarcinoma

[Term]
id: MONDO:0006193
name: endometrial hyperplasia without atypia
def: "Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "typical endometrial hyperplasia" EXACT [NCIT:C40157]
xref: EFO:1000234 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:621.34 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:274011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40157 {source="EFO:1000234", source="MONDO:equivalentTo"}
xref: SCTID:134031000119108 {source="MONDO:equivalentTo"}
xref: UMLS:C1516855 {source="MONDO:equivalentTo", source="MEDGEN:274011", source="MONDO:MEDGEN"}
is_a: MONDO:0005043 {source="EFO:1000234", source="NCIT:C40157/inferred"} ! hyperplasia

[Term]
id: MONDO:0006194
name: obsolete endometrial mucinous adenocarcinoma
def: "OBSOLETE. A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." [NCIT:C40144]
is_obsolete: true
replaced_by: MONDO:0002747

[Term]
id: MONDO:0006195
name: endometrial polyp
def: "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." [NCIT:C6433]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial polyp" EXACT [NCIT:C6433]
synonym: "endometrial stromal polyp" EXACT [NCIT:C6433]
synonym: "endometrium polyp" EXACT [MONDO:patterns/location]
synonym: "polyp of endometrium" EXACT [NCIT:C6433]
synonym: "polyp of the endometrium" EXACT [NCIT:C6433]
synonym: "polyp, endometrial stromal, benign" EXACT [NCIT:C6433]
xref: EFO:1000237 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:312370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6433 {source="MONDO:equivalentTo", source="EFO:1000237"}
xref: UMLS:C1704273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:312370"}
is_a: MONDO:0004701 {source="MONDO:Redundant", source="NCIT:C6433"} ! uterine polyp
is_a: MONDO:0005079 {source="EFO:1000237", source="MONDO:Redundant", source="NCIT:C6433/inferred"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0006196
name: endometrial serous adenocarcinoma
def: "A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." [NCIT:C27838]
subset: otar {source="MONDO:OTAR"}
synonym: "body of uterus serous adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial serous adenocarcinoma" EXACT [NCIT:C27838]
synonym: "serous endometrial adenocarcinoma" EXACT [NCIT:C27838]
synonym: "uterine corpus serous adenocarcinoma" EXACT [NCIT:C27838]
synonym: "uterine papillary serous carcinoma" EXACT [DOID:5750, NCIT:C27838]
synonym: "uterine serous adenocarcinoma" BROAD [DOID:5750, NCIT:C27838]
synonym: "uterine serous carcinoma" BROAD [DOID:5750, NCIT:C27838]
synonym: "uterine serous carcinoma/uterine papillary serous carcinoma" RELATED [ONCOTREE:USC]
synonym: "uterine serous papillary adenocarcinoma" EXACT [NCIT:C27838]
xref: DOID:5750 {source="MONDO:equivalentTo"}
xref: EFO:1000238 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1659908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27838 {source="DOID:5750", source="MONDO:equivalentTo", source="EFO:1000238"}
xref: ONCOTREE:USC {source="MONDO:equivalentTo"}
xref: UMLS:C0854924 {source="MEDGEN:1659908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005278 {source="DOID:5750", source="EFO:1000238", source="MONDO:Redundant", source="NCIT:C27838"} ! serous adenocarcinoma
is_a: MONDO:0006003 {source="DOID:5750", source="MONDO:Entailed", source="MONDO:Redundant"} ! uterine corpus cancer
intersection_of: MONDO:0005278 ! serous adenocarcinoma
intersection_of: disease_arises_from_structure UBERON:0001295 ! endometrium
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7280" xsd:anyURI

[Term]
id: MONDO:0006197
name: endometrial small cell carcinoma
def: "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." [NCIT:C40155]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endometrial small cell carcinoma" EXACT [NCIT:C40155]
synonym: "endometrium small cell carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "small cell carcinoma of endometrium" EXACT [MONDO:design_pattern]
xref: DOID:7139 {source="MONDO:equivalentTo"}
xref: EFO:1000239 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:309057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40155 {source="DOID:7139", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000239"}
xref: UMLS:C1516858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309057"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="NCIT:C40155"} ! small cell carcinoma
is_a: MONDO:0002447 {source="DOID:7139", source="MONDO:Redundant", source="NCIT:C40155"} ! endometrial carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0006198
name: endometrial squamous cell carcinoma
def: "A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." [NCIT:C8719]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial squamous cell carcinoma" EXACT [NCIT:C8719]
synonym: "endometrium squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of endometrium" EXACT [DOID:5533, NCIT:C8719]
synonym: "squamous cell carcinoma of the endometrium" EXACT [NCIT:C8719]
xref: DOID:5533 {source="MONDO:equivalentTo"}
xref: EFO:1000240 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8719 {source="DOID:5533", source="EFO:1000240", source="MONDO:equivalentTo"}
xref: UMLS:C1333396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234217"}
is_a: MONDO:0002447 {source="DOID:5533", source="MONDO:Redundant", source="NCIT:C8719"} ! endometrial carcinoma
is_a: MONDO:0005096 {source="DOID:5533", source="EFO:1000240", source="MONDO:Redundant", source="NCIT:C8719"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0006199
name: endometrial undifferentiated carcinoma
def: "A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." [NCIT:C40156]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial undifferentiated carcinoma" EXACT [NCIT:C40156]
synonym: "undifferentiated endometrial carcinoma" EXACT [NCIT:C40156]
xref: EFO:1000242 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:274013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40156 {source="EFO:1000242", source="MONDO:equivalentTo"}
xref: UMLS:C1516865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274013"}
is_a: MONDO:0002447 {source="MONDO:Redundant", source="NCIT:C40156"} ! endometrial carcinoma
is_a: MONDO:0004993 {source="EFO:1000242", source="EFO:1000242/inferred", source="MONDO:0006199/inferred", source="MONDO:Redundant", source="NCIT:C40156/inferred"} ! carcinoma
is_a: MONDO:0005617 {source="MONDO:Redundant", source="NCIT:C40156"} ! undifferentiated carcinoma
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0006200
name: epithelioid cell uveal melanoma
def: "A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." [NCIT:C35780]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epithelioid cell melanoma of uvea" EXACT [MONDO:design_pattern]
synonym: "epithelioid cell uveal melanoma" EXACT [NCIT:C35780]
synonym: "uvea epithelioid cell melanoma" EXACT [MONDO:patterns/location]
synonym: "uveal epithelioid cell melanoma" EXACT [MONDO:0004084, NCIT:C35780]
xref: DOID:7040 {source="MONDO:equivalentTo"}
xref: EFO:1000244 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35780 {source="MONDO:equivalentTo", source="EFO:1000244", source="DOID:7040"}
xref: UMLS:C1333422 {source="MEDGEN:234223", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002973 {source="MONDO:Redundant", source="NCIT:C35780"} ! epithelioid cell melanoma
is_a: MONDO:0005105 {source="DOID:7040/inferred", source="EFO:1000244", source="MONDO:Redundant", source="NCIT:C35780/inferred"} ! melanoma
is_a: MONDO:0006486 {source="DOID:7040", source="MONDO:Redundant", source="NCIT:C35780"} ! uveal melanoma
intersection_of: MONDO:0002973 ! epithelioid cell melanoma
intersection_of: disease_has_location UBERON:0001768 ! uvea

[Term]
id: MONDO:0006201
name: ethmoid sinus adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that affects the ethmoid sinus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of ethmoid sinus" RELATED [DOID:2764]
synonym: "adenoid cystic carcinoma of the ethmoid sinus" EXACT [DOID:2764, NCIT:C6238]
xref: DOID:2764 {source="MONDO:equivalentTo"}
xref: EFO:1000246 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6238 {source="MONDO:equivalentTo", source="DOID:2764", source="EFO:1000246"}
xref: UMLS:C1333473 {source="MEDGEN:232471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001763 {source="DOID:2764", source="MONDO:Redundant", source="NCIT:C6238"} ! ethmoid sinus cancer
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus

[Term]
id: MONDO:0006202
name: extrahepatic bile duct adenosquamous carcinoma
def: "A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components." [NCIT:C5778]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosquamous bile duct carcinoma" NARROW [NCIT:C5778]
synonym: "adenosquamous carcinoma of bile duct" NARROW [NCIT:C5778]
synonym: "adenosquamous carcinoma of the bile duct" NARROW [NCIT:C5778]
synonym: "bile duct adenosquamous carcinoma" NARROW [NCIT:C5778]
synonym: "extrahepatic bile duct adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C5778]
xref: EFO:1000247 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: NCIT:C5778 {source="MONDO:equivalentTo", source="EFO:1000247"}
is_a: MONDO:0003090 {source="MONDO:Redundant", source="NCIT:C5778"} ! extrahepatic bile duct carcinoma
is_a: MONDO:0006074 {source="MONDO:0006202/inferred", source="MONDO:Redundant", source="NCIT:C5778"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct
relationship: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0006203
name: extrahepatic bile duct squamous cell carcinoma
def: "A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells." [NCIT:C5777]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bile duct squamous cell carcinoma" BROAD [NCIT:C5777]
synonym: "extrahepatic bile duct squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C5777]
synonym: "squamous cell bile duct carcinoma" BROAD [NCIT:C5777]
synonym: "squamous cell carcinoma of bile duct" BROAD [NCIT:C5777]
synonym: "squamous cell carcinoma of the bile duct" BROAD [NCIT:C5777]
xref: EFO:1000248 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: NCIT:C5777 {source="MONDO:equivalentTo", source="EFO:1000248"}
is_a: MONDO:0003090 {source="MONDO:Redundant", source="NCIT:C5777"} ! extrahepatic bile duct carcinoma
is_a: MONDO:0005096 {source="EFO:1000248", source="NCIT:C5777"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0006204
name: obsolete extramammary Paget disease
is_obsolete: true
replaced_by: MONDO:0008177

[Term]
id: MONDO:0006205
name: obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor
is_obsolete: true
replaced_by: MONDO:0021039

[Term]
id: MONDO:0006206
name: fallopian tube carcinoma
def: "A carcinoma that arises from epithelial cells of the fallopian tube." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of fallopian tube" BROAD [NCIT:C3867]
synonym: "cancer of the fallopian tube" BROAD [DOID:1963, NCIT:C3867]
synonym: "carcinoma of fallopian tube" EXACT [MONDO:patterns/carcinoma, NCIT:C3867]
synonym: "carcinoma of the fallopian tube" EXACT [NCIT:C3867]
synonym: "fallopian tube Ca" EXACT [DOID:1963]
synonym: "fallopian tube cancer" BROAD [NCIT:C3867]
synonym: "fallopian tube carcinoma" EXACT [MONDO:patterns/location, NCIT:C3867]
xref: DOID:1963 {source="MONDO:equivalentTo"}
xref: EFO:1000251 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:66762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005185 {source="DOID:1963"}
xref: NCIT:C3867 {source="EFO:1000251", source="MONDO:equivalentTo", source="DOID:1963"}
xref: SCTID:154529008 {source="DOID:1963"}
xref: SCTID:269602009 {source="DOID:1963"}
xref: SCTID:276870001 {source="MONDO:equivalentTo", source="DOID:1963"}
xref: SCTID:93794008 {source="DOID:1963"}
xref: UMLS:C0238122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66762"}
is_a: MONDO:0002158 {source="DOID:1963", source="MONDO:Redundant", source="NCIT:C3867"} ! fallopian tube cancer
is_a: MONDO:0004993 {source="DOID:1963", source="EFO:1000251", source="MONDO:Redundant", source="NCIT:C3867"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0006207
name: fallopian tube carcinosarcoma
def: "A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." [NCIT:C40124]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fallopian tube carcinosarcoma" EXACT [MONDO:patterns/location]
synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:1970]
synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 []
synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40124]
synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 []
synonym: "fallopian tube malignant mixed Mullerian tumor" EXACT [DOID:1970]
synonym: "fallopian tube malignant mixed Mullerian tumour" EXACT OMO:0003005 []
xref: DOID:1970 {source="MONDO:equivalentTo"}
xref: EFO:1000252 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:273294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40124 {source="EFO:1000252", source="DOID:1970", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1517117 {source="MEDGEN:273294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002928 {source="DOID:1970", source="MONDO:Redundant", source="NCIT:C40124/inferred"} ! carcinosarcoma
is_a: MONDO:0006206 {source="EFO:1000252"} ! fallopian tube carcinoma
intersection_of: MONDO:0002928 ! carcinosarcoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0006208
name: fallopian tube serous adenocarcinoma
def: "A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." [NCIT:C40099]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fallopian tube serous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40099]
xref: DOID:5598 {source="MONDO:equivalentTo"}
xref: EFO:1000253 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:274490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40099 {source="DOID:5598", source="EFO:1000253", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1517124 {source="MEDGEN:274490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002746 {source="DOID:5598", source="MONDO:Redundant", source="NCIT:C40099"} ! fallopian tube adenocarcinoma
is_a: MONDO:0005278 {source="DOID:5598", source="EFO:1000253", source="MONDO:Redundant", source="NCIT:C40099"} ! serous adenocarcinoma
intersection_of: MONDO:0005278 ! serous adenocarcinoma
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0006209
name: fibroblastic neoplasm
def: "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." [NCIT:C7075]
subset: otar {source="MONDO:OTAR"}
synonym: "fibroblastic neoplasm" EXACT [NCIT:C7075]
synonym: "fibroblastic tumor" EXACT [NCIT:C7075]
synonym: "fibroblastic tumour" EXACT OMO:0003005 []
synonym: "fibrocytic neoplasm" EXACT [NCIT:C7075]
synonym: "fibrocytic tumor" EXACT [NCIT:C7075]
synonym: "fibrocytic tumour" EXACT OMO:0003005 []
synonym: "fibrogenic neoplasm" EXACT [NCIT:C7075]
synonym: "fibrogenicTumor" EXACT [NCIT:C7075]
synonym: "fibrous neoplasm" EXACT [NCIT:C7075]
synonym: "fibrous tumor" EXACT [NCIT:C7075]
synonym: "fibrous tumour" EXACT OMO:0003005 []
xref: EFO:1000255 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:60198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7075 {source="MONDO:equivalentTo", source="EFO:1000255"}
xref: UMLS:C0206643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60198"}
is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C7075"} ! mesenchymal cell neoplasm
intersection_of: MONDO:0002616 {source="NCIT:C7075"} ! mesenchymal cell neoplasm
intersection_of: disease_arises_from_structure CL:0000057 {source="NCIT:C7075"} ! fibroblast
relationship: disease_has_location CL:0000057 {source="EFO:0000784"} ! fibroblast

[Term]
id: MONDO:0006210
name: fibrolamellar hepatocellular carcinoma
def: "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." [NCIT:C4131]
subset: gard_rare {source="GARD:21704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401920"}
subset: orphanet_rare {source="Orphanet:401920"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eosinophilic glassy cell hepatoma" RELATED [GARD:0009396]
synonym: "eosinophilic hepatocellular carcinoma with lamellar fibrosis" RELATED [GARD:0009396]
synonym: "FHCC" EXACT ABBREVIATION [Orphanet:401920]
synonym: "fibrolamellar cancer" EXACT [NCIT:C4131]
synonym: "fibrolamellar carcinoma" EXACT [MONDO:0018427, NCIT:C4131]
synonym: "fibrolamellar carcinoma of liver cells" EXACT [NCIT:C4131]
synonym: "fibrolamellar carcinoma of the liver cells" EXACT [NCIT:C4131]
synonym: "fibrolamellar hepatocarcinoma" EXACT [Orphanet:401920]
synonym: "fibrolamellar hepatocellular carcinoma" EXACT [DOID:5015, NCIT:C4131]
synonym: "fibrolamellar oncocytic hepatoma" RELATED [GARD:0009396]
synonym: "fibrolamellar variant of hepatocellular carcinoma" RELATED [GARD:0009396]
synonym: "FL-HCC" RELATED [GARD:0009396]
synonym: "FLC" EXACT ABBREVIATION [NCIT:C4131, ONCOTREE:FLC]
synonym: "hepatocellular carcinoma (fibrolamellar variant)" RELATED [GARD:0009396]
synonym: "hepatocellular carcinoma with increased stromal fibrosis" RELATED [GARD:0009396]
synonym: "hepatocellular carcinoma, fibrolamellar" EXACT [DOID:5015]
synonym: "hepatocellular fibrolamellar carcinoma" EXACT [NCIT:C4131]
synonym: "liver cell fibrolamellar carcinoma" EXACT [NCIT:C4131]
synonym: "oncocytic hepatocellular tumor" EXACT [DOID:5015, NCIT:C4131]
synonym: "oncocytic hepatocellular tumour" EXACT OMO:0003005 []
synonym: "polygonal cell hepatocellular carcinoma with fibrous stroma" RELATED [GARD:0009396]
synonym: "polygonal cell type hepatocellular carcinoma with fibrous Stroma" EXACT [NCIT:C4131]
xref: DOID:5015 {source="MONDO:equivalentTo"}
xref: EFO:1000256 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21704 {source="MONDO:GARD"}
xref: ICD10CM:C22.0 {source="Orphanet:401920/ntbt", source="Orphanet:401920"}
xref: ICDO:8171/3 {source="NCIT:C4131"}
xref: MEDGEN:83122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537258 {source="DOID:5015", source="MONDO:equivalentTo"}
xref: NCIT:C4131 {source="DOID:5015", source="EFO:1000256", source="MONDO:equivalentTo"}
xref: ONCOTREE:FLC {source="MONDO:equivalentTo"}
xref: Orphanet:401920 {source="MONDO:equivalentTo"}
xref: SCTID:15619004 {source="DOID:5015"}
xref: SCTID:253018005 {source="DOID:5015", source="MONDO:equivalentTo"}
xref: UMLS:C0334287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83122"}
is_a: MONDO:0007256 {source="DOID:5015", source="DOID:5015/inferred", source="EFO:1000256", source="MESH:C537258", source="NCIT:C4131"} ! hepatocellular carcinoma
is_a: MONDO:0018531 {source="MONDO:Redundant", source="NCIT:C4131/inferred", source="Orphanet:401920"} ! carcinoma of liver and intrahepatic biliary tract

[Term]
id: MONDO:0006211
name: fibrous hamartoma of infancy
def: "A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fibrous hamartoma" EXACT [NCIT:C3942]
synonym: "fibrous hamartoma of infancy" EXACT [NCIT:C3942]
synonym: "infantile fibrous hamartoma" EXACT [NCIT:C3942]
xref: EFO:1000257 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3942 {source="MONDO:equivalentTo", source="EFO:1000257"}
xref: SCTID:56364004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265979 {source="MEDGEN:120562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000257", source="MONDO:Redundant", source="NCIT:C3942/inferred"} ! neoplasm
is_a: MONDO:0024478 {source="NCIT:C3942"} ! mesenchymal hamartoma

[Term]
id: MONDO:0006212
name: flat urothelial hyperplasia
def: "A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" [NCIT:C27878]
subset: otar {source="MONDO:OTAR"}
synonym: "flat urothelial hyperplasia" EXACT [NCIT:C27878]
xref: EFO:1000259 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27878 {source="MONDO:equivalentTo", source="EFO:1000259"}
xref: UMLS:C1333621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272633"}
is_a: MONDO:0005043 {source="EFO:1000259", source="MONDO:Redundant", source="NCIT:C27878/inferred"} ! hyperplasia
is_a: MONDO:0024483 {source="NCIT:C27878"} ! urothelial hyperplasia

[Term]
id: MONDO:0006213
name: floor of mouth mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." [NCIT:C8178]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mouth floor mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "mucoepidermoid carcinoma of floor of mouth" EXACT [NCIT:C8178]
synonym: "mucoepidermoid carcinoma of the floor of mouth" EXACT [NCIT:C8178]
xref: EFO:1000260 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:124718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8178 {source="EFO:1000260", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0280310 {source="MEDGEN:124718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003036 {source="MONDO:Entailed", source="NCIT:C8178/inferred"} ! mucoepidermoid carcinoma
is_a: MONDO:0005515 {source="EFO:1000260", source="NCIT:C8178/inferred"} ! oral cavity cancer
is_a: MONDO:0021343 {source="MONDO:Redundant", source="NCIT:C8178"} ! carcinoma of floor of mouth
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0003679 ! mouth floor

[Term]
id: MONDO:0006214
name: follicular variant thyroid gland papillary carcinoma
def: "A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "FVPTC" EXACT ABBREVIATION [NCIT:C126594]
xref: EFO:1000261 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:811427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126594 {source="MONDO:equivalentTo"}
xref: NCIT:C7381 {source="EFO:1000261"}
xref: UMLS:C3714651 {source="MONDO:equivalentTo", source="MEDGEN:811427", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="EFO:1000261", source="NCIT:C126594/inferred"} ! adenocarcinoma

[Term]
id: MONDO:0006215
name: gallbladder adenocarcinoma
def: "A carcinoma that arises from glandular epithelial cells of the gall bladder." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of gallbladder" EXACT [NCIT:C9166]
synonym: "adenocarcinoma of the gallbladder" EXACT [DOID:3500, NCIT:C9166]
synonym: "gall bladder adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder adenocarcinoma" EXACT [NCIT:C9166]
xref: DOID:3500 {source="MONDO:equivalentTo"}
xref: EFO:1000262 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9166 {source="EFO:1000262", source="DOID:3500", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0279651 {source="MEDGEN:76009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003220 {source="DOID:3500", source="MONDO:Redundant", source="NCIT:C9166"} ! gallbladder carcinoma
is_a: MONDO:0004970 {source="DOID:3500", source="EFO:1000262", source="MONDO:Redundant", source="NCIT:C9166"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0006216
name: gallbladder adenoma
def: "A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." [NCIT:C7720]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of gallbladder" EXACT [NCIT:C7720]
synonym: "adenoma of the gallbladder" EXACT [NCIT:C7720]
synonym: "gall bladder adenoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder adenoma" EXACT [NCIT:C7720]
xref: DOID:0050893 {source="MONDO:equivalentTo"}
xref: EFO:1000263 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:116046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7720 {source="EFO:1000263", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0238137 {source="MEDGEN:116046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="DOID:0050893", source="EFO:1000263", source="MONDO:Redundant", source="NCIT:C7720/inferred"} ! adenoma
is_a: MONDO:0005079 {source="EFO:1000263", source="NCIT:C7720/inferred"} ! polyp
is_a: MONDO:0006180 {source="NCIT:C7720"} ! digestive system adenoma
is_a: MONDO:0021416 {source="MONDO:Redundant", source="NCIT:C7720"} ! polyp of gallbladder
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder
relationship: excluded_subClassOf MONDO:0005304 {source="DOID:0050893", source="https://orcid.org/0000-0001-5208-3432"} ! biliary tract neoplasm

[Term]
id: MONDO:0006217
name: gallbladder adenosquamous carcinoma
def: "A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." [NCIT:C7356]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosquamous carcinoma of gallbladder" EXACT [DOID:5627, NCIT:C7356]
synonym: "adenosquamous carcinoma of the gallbladder" EXACT [DOID:5627, NCIT:C7356]
synonym: "adenosquamous gallbladder carcinoma" EXACT [MONDO:0003552]
synonym: "gall bladder adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder adenosquamous cancer" EXACT [NCIT:C7356]
synonym: "gallbladder adenosquamous carcinoma" EXACT [NCIT:C7356]
synonym: "GBASC" RELATED ABBREVIATION [ONCOTREE:GBASC]
xref: DOID:5627 {source="MONDO:equivalentTo"}
xref: EFO:1000264 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7356 {source="EFO:1000264", source="MONDO:equivalentTo", source="DOID:5627"}
xref: ONCOTREE:GBASC {source="MONDO:equivalentTo"}
xref: UMLS:C1333741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232539"}
is_a: MONDO:0003220 {source="DOID:5627", source="MONDO:Redundant", source="NCIT:C7356"} ! gallbladder carcinoma
is_a: MONDO:0006074 {source="MONDO:Redundant", source="NCIT:C7356"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0006218
name: gallbladder biliary intraepithelial neoplasia
def: "A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." [NCIT:C43606]
subset: otar {source="MONDO:OTAR"}
synonym: "gallbladder biliary intraepithelial neoplasia" EXACT [NCIT:C43606]
synonym: "gallbladder BilIN" EXACT [NCIT:C43606]
synonym: "gallbladder dysplasia" EXACT [NCIT:C43606]
synonym: "gallbladder intraepithelial neoplasia" EXACT [NCIT:C43606]
synonym: "intracystic biliary intraepithelial neoplasia" EXACT [NCIT:C43606]
synonym: "intracystic BilIN" EXACT [NCIT:C43606]
xref: EFO:1000265 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:317714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43606 {source="EFO:1000265", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1708174 {source="MONDO:equivalentTo", source="MEDGEN:317714", source="MONDO:MEDGEN"}
is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C43606/inferred"} ! hepatobiliary neoplasm
is_a: MONDO:0005070 {source="EFO:1000265/inferred", source="MONDO:Redundant", source="NCIT:C43606/inferred"} ! neoplasm
is_a: MONDO:0005281 {source="MONDO:Redundant", source="NCIT:C43606/inferred"} ! gallbladder disorder
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C43606"} ! gallbladder neoplasm
relationship: disease_has_location UBERON:0002110 ! gallbladder
relationship: has_characteristic PATO:0002132 ! neoplastic, non-invasive

[Term]
id: MONDO:0006219
name: gallbladder small cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." [NCIT:C6763]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gall bladder small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder Oat cell carcinoma" EXACT [NCIT:C6763]
synonym: "gallbladder small cell carcinoma" EXACT [MONDO:0004115, NCIT:C6763]
synonym: "gallbladder small cell NEC" EXACT [NCIT:C6763]
synonym: "gallbladder small cell neuroendocrine carcinoma" EXACT [NCIT:C6763]
synonym: "Oat cell carcinoma of gallbladder" EXACT [NCIT:C6763]
synonym: "Oat cell carcinoma of the gallbladder" EXACT [DOID:7133, NCIT:C6763]
synonym: "small cell carcinoma of gall bladder" EXACT [MONDO:design_pattern]
synonym: "small cell carcinoma of gallbladder" EXACT [NCIT:C6763]
synonym: "small cell carcinoma of the gallbladder" EXACT [NCIT:C6763]
xref: DOID:7133 {source="MONDO:equivalentTo"}
xref: EFO:1000266 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6763 {source="MONDO:equivalentTo", source="EFO:1000266", source="DOID:7133"}
xref: UMLS:C1333759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232229"}
is_a: MONDO:0000402 {source="DOID:7133", source="MONDO:Redundant", source="NCIT:C6763"} ! small cell carcinoma
is_a: MONDO:0003220 {source="DOID:7133", source="MONDO:Redundant", source="NCIT:C6763/inferred"} ! gallbladder carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0006220
name: gallbladder squamous cell carcinoma
def: "A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells." [NCIT:C9170]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of gallbladder" EXACT [NCIT:C9170]
synonym: "epidermoid carcinoma of the gallbladder" EXACT [NCIT:C9170]
synonym: "epidermoid gallbladder carcinoma" EXACT [DOID:5535, NCIT:C9170]
synonym: "gall bladder squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder squamous cell cancer" EXACT [NCIT:C9170]
synonym: "gallbladder squamous cell carcinoma" EXACT [NCIT:C9170]
synonym: "squamous cell carcinoma of gallbladder" EXACT [NCIT:C9170]
synonym: "squamous cell carcinoma of the gallbladder" EXACT [DOID:5535, NCIT:C9170]
synonym: "squamous cell gallbladder carcinoma" EXACT [NCIT:C9170]
xref: DOID:5535 {source="MONDO:equivalentTo"}
xref: EFO:1000267 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9170 {source="DOID:5535", source="EFO:1000267", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0279658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83539"}
is_a: MONDO:0003220 {source="DOID:5535", source="MONDO:Redundant", source="NCIT:C9170"} ! gallbladder carcinoma
is_a: MONDO:0005096 {source="DOID:5535", source="EFO:1000267", source="MONDO:Redundant", source="NCIT:C9170"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0006221
name: gastric adenoma
def: "A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." [NCIT:C7699]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of stomach" EXACT [NCIT:C7699]
synonym: "adenoma of the stomach" EXACT [NCIT:C7699]
synonym: "gastric adenoma" EXACT [NCIT:C7699]
synonym: "stomach adenoma" EXACT [MONDO:patterns/location]
xref: EFO:1000268 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:56204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7699 {source="MONDO:equivalentTo", source="EFO:1000268", source="MONDO:exact-label-match"}
xref: UMLS:C0149826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56204"}
is_a: MONDO:0006180 {source="MONDO:Redundant", source="NCIT:C7699"} ! digestive system adenoma
is_a: MONDO:0008277 {source="NCIT:C7699"} ! stomach polyp
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C7699"} ! gastric neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: disease_arises_from_structure UBERON:0001199 {source="NCIT:C7699"} ! mucosa of stomach

[Term]
id: MONDO:0006222
name: gastric choriocarcinoma
def: "A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." [NCIT:C95749]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric choriocarcinoma" EXACT [NCIT:C95749]
xref: EFO:1000269 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:459624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95749 {source="MONDO:equivalentTo", source="EFO:1000269", source="MONDO:exact-label-match"}
xref: UMLS:C2987398 {source="MEDGEN:459624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003112 {source="MONDO:Redundant", source="NCIT:C95749"} ! malignant gastric germ cell tumor
is_a: MONDO:0003578 {source="NCIT:C95749"} ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0005207 {source="EFO:1000269", source="MONDO:Redundant", source="NCIT:C95749"} ! choriocarcinoma
intersection_of: MONDO:0005207 ! choriocarcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0006223
name: gastric diffuse large B-cell lymphoma
def: "An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." [NCIT:C5253]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric diffuse large B-cell lymphoma" EXACT [NCIT:C5253]
synonym: "primary diffuse large B-cell gastric lymphoma" EXACT [NCIT:C5253]
synonym: "primary diffuse large B-cell lymphoma of stomach" EXACT [NCIT:C5253]
synonym: "primary diffuse large B-cell lymphoma of the stomach" EXACT [NCIT:C5253]
synonym: "primary gastric diffuse large B-cell lymphoma" EXACT [NCIT:C5253]
xref: EFO:1000270 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5253 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000270"}
xref: UMLS:C1335483 {source="MEDGEN:277530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018905 {source="EFO:1000270", source="MONDO:Redundant", source="NCIT:C5253"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma
intersection_of: disease_arises_from_structure UBERON:0000945 ! stomach
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0006224
name: gastric hamartomatous polyp
def: "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." [NCIT:C4373]
subset: otar {source="MONDO:OTAR"}
synonym: "gastric hamartomatous polyp" EXACT [NCIT:C4373]
synonym: "hamartoma of stomach" EXACT [NCIT:C4373]
synonym: "hamartoma of the stomach" EXACT [NCIT:C4373]
synonym: "stomach hamartoma (disease)" EXACT [MONDO:patterns/location]
xref: EFO:1000271 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:90961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4373 {source="EFO:1000271", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:235685007 {source="MONDO:equivalentTo"}
xref: UMLS:C0341225 {source="MONDO:equivalentTo", source="MEDGEN:90961", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:1000271", source="MONDO:Redundant", source="NCIT:C4373/inferred"} ! polyp
is_a: MONDO:0006231 {source="NCIT:C4373"} ! gastrointestinal hamartoma
is_a: MONDO:0006499 {source="MONDO:Entailed", source="NCIT:C4373/inferred"} ! hamartoma
intersection_of: MONDO:0006499 ! hamartoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0006225
name: gastric mantle cell lymphoma
def: "A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course." [NCIT:C27440]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric mantle cell lymphoma" EXACT [NCIT:C27440]
synonym: "mantle cell lymphoma of stomach" EXACT [NCIT:C27440]
synonym: "mantle cell lymphoma of the stomach" EXACT [NCIT:C27440]
synonym: "stomach mantle cell lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1000272 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27440 {source="EFO:1000272", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333780 {source="MEDGEN:234300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="EFO:1000272", source="EFO:1000272/inferred", source="MONDO:Redundant", source="NCIT:C27440/inferred"} ! lymphoma
is_a: MONDO:0018876 {source="MONDO:Redundant", source="NCIT:C27440"} ! mantle cell lymphoma
intersection_of: MONDO:0018876 ! mantle cell lymphoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0006226
name: gastric mucosa-associated lymphoid tissue lymphoma
def: "A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." [NCIT:C5266]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric MALT lymphoma" EXACT [NCIT:C5266]
synonym: "gastric MALToma" EXACT [NCIT:C5266]
synonym: "gastric mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5266]
synonym: "MALT lymphoma of stomach" EXACT [NCIT:C5266]
synonym: "MALT lymphoma of the stomach" EXACT [NCIT:C5266]
synonym: "MALToma of stomach" EXACT [NCIT:C5266]
synonym: "MALToma of the stomach" EXACT [NCIT:C5266]
synonym: "primary gastric B-cell MALT lymphoma" EXACT [NCIT:C5266]
synonym: "primary gastric MALT lymphoma" EXACT [NCIT:C5266]
synonym: "primary MALT lymphoma of stomach" EXACT [NCIT:C5266]
synonym: "primary MALT lymphoma of the stomach" EXACT [NCIT:C5266]
synonym: "stomach MALT lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1000274 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5266 {source="EFO:1000274", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1333782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232547"}
is_a: MONDO:0005062 {source="EFO:1000274", source="MONDO:Redundant", source="NCIT:C5266/inferred"} ! lymphoma
is_a: MONDO:0007650 {source="MONDO:Redundant", source="NCIT:C5266"} ! MALT lymphoma
intersection_of: MONDO:0007650 ! MALT lymphoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0006227
name: gastric neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric carcinoid tumor" EXACT [NCIT:C4635]
synonym: "gastric carcinoid tumour" EXACT OMO:0003005 []
synonym: "gastric ECL cell NET" EXACT [NCIT:C4635]
synonym: "gastric ECL cell NET G1" EXACT [NCIT:C4635]
synonym: "gastric ECL cell, histamine-producing NET" EXACT [NCIT:C4635]
synonym: "gastric ECL-cell carcinoid tumor" EXACT [NCIT:C4635]
synonym: "gastric ECL-cell carcinoid tumour" EXACT OMO:0003005 []
synonym: "gastric enterochromaffin-like cell carcinoid tumor" EXACT [NCIT:C4635]
synonym: "gastric enterochromaffin-like cell carcinoid tumour" EXACT OMO:0003005 []
synonym: "gastric enterochromaffin-like cell neuroendocrine tumor" EXACT [NCIT:C4635]
synonym: "gastric enterochromaffin-like cell neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "gastric NET G1" EXACT [NCIT:C4635]
synonym: "grade 1 neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "stomach carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "stomach carcinoid tumour" EXACT OMO:0003005 []
synonym: "stomach NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "stomach neuroendocrine neoplasm G1" EXACT []
synonym: "stomach neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000275 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4635 {source="EFO:1000275", source="MONDO:equivalentTo"}
xref: UMLS:C0349529 {source="MEDGEN:83885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005369 {source="EFO:1000275", source="MONDO:Redundant", source="NCIT:C4635/inferred"} ! carcinoid tumor
is_a: MONDO:0015062 {source="NCIT:C4635"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000945 ! stomach
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0006228
name: gastric papillary adenocarcinoma
def: "A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." [NCIT:C5472]
subset: otar {source="MONDO:OTAR"}
synonym: "gastric papillary adenocarcinoma" EXACT [NCIT:C5472]
synonym: "papillary adenocarcinoma of stomach" EXACT [DOID:5593, NCIT:C5472]
synonym: "papillary adenocarcinoma of the stomach" EXACT [NCIT:C5472]
synonym: "papillary stomach adenocarcinoma" RELATED [ONCOTREE:PSTAD]
synonym: "stomach papillary adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5593 {source="MONDO:equivalentTo"}
xref: EFO:1000276 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5472 {source="EFO:1000276", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5593"}
xref: ONCOTREE:PSTAD {source="MONDO:equivalentTo"}
xref: UMLS:C1333785 {source="MEDGEN:232550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002512 {source="DOID:5593", source="MONDO:Redundant", source="NCIT:C5472"} ! papillary adenocarcinoma
is_a: MONDO:0005036 {source="DOID:5593", source="EFO:1000276", source="MONDO:Redundant", source="NCIT:C5472/inferred", source="ONCOTREE:PSTAD"} ! gastric adenocarcinoma
intersection_of: MONDO:0002512 ! papillary adenocarcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0006229
name: gastric small cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." [NCIT:C6764]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric Oat cell carcinoma" EXACT [NCIT:C6764]
synonym: "gastric small cell carcinoma" EXACT [MONDO:0003920, NCIT:C6764]
synonym: "gastric small cell neuroendocrine carcinoma" EXACT [NCIT:C6764]
synonym: "Oat cell carcinoma of stomach" EXACT [NCIT:C6764]
synonym: "Oat cell carcinoma of the stomach" EXACT [NCIT:C6764]
synonym: "small cell carcinoma of stomach" EXACT [DOID:6552, NCIT:C6764]
synonym: "small cell carcinoma of the stomach" EXACT [NCIT:C6764]
synonym: "stomach small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "STSC" RELATED ABBREVIATION [ONCOTREE:STSC]
xref: DOID:6552 {source="MONDO:equivalentTo"}
xref: EFO:1000277 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6764 {source="MONDO:equivalentTo", source="EFO:1000277", source="DOID:6552"}
xref: ONCOTREE:STSC {source="MONDO:equivalentTo"}
xref: UMLS:C1333788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272664"}
is_a: MONDO:0000402 {source="DOID:6552", source="MONDO:Redundant", source="NCIT:C6764"} ! small cell carcinoma
is_a: MONDO:0004950 {source="DOID:6552", source="EFO:1000277", source="MONDO:Redundant", source="NCIT:C6764/inferred"} ! gastric carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0006230
name: gastric squamous cell carcinoma
def: "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." [NCIT:C5475]
subset: gard_rare {source="GARD:21743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:418959"}
subset: orphanet_rare {source="Orphanet:418959"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric (stomach) squamous cell cancer" EXACT [NCIT:C5475]
synonym: "gastric squamous cell carcinoma" EXACT [NCIT:C5475, Orphanet:418959]
synonym: "squamous cell carcinoma of stomach" EXACT [DOID:5516, MONDO:0018482, NCIT:C5475]
synonym: "squamous cell carcinoma of the stomach" EXACT [NCIT:C5475]
synonym: "stomach squamous cell carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5516 {source="MONDO:equivalentTo"}
xref: EFO:1000278 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21743 {source="MONDO:GARD"}
xref: ICD10CM:C16.0 {source="Orphanet:418959", source="Orphanet:418959/nd"}
xref: ICD10CM:C16.1 {source="Orphanet:418959", source="Orphanet:418959/nd"}
xref: ICD10CM:C16.2 {source="Orphanet:418959", source="Orphanet:418959/nd"}
xref: ICD10CM:C16.3 {source="Orphanet:418959", source="Orphanet:418959/nd"}
xref: ICD10CM:C16.4 {source="Orphanet:418959", source="Orphanet:418959/nd"}
xref: ICD10CM:C16.5 {source="Orphanet:418959", source="Orphanet:418959/nd"}
xref: ICD10CM:C16.8 {source="Orphanet:418959", source="Orphanet:418959/nd"}
xref: MEDGEN:234302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5475 {source="EFO:1000278", source="MONDO:equivalentTo", source="DOID:5516"}
xref: Orphanet:418959 {source="MONDO:equivalentTo"}
xref: SCTID:766980008 {source="MONDO:equivalentTo"}
xref: UMLS:C1333789 {source="MEDGEN:234302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004950 {source="DOID:5516", source="EFO:1000278", source="MONDO:Redundant", source="NCIT:C5475", source="Orphanet:418959"} ! gastric carcinoma
is_a: MONDO:0005096 {source="DOID:5516", source="EFO:1000278", source="MONDO:Redundant", source="NCIT:C5475"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0006231
name: gastrointestinal hamartoma
def: "A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." [NCIT:C96475]
subset: otar {source="MONDO:OTAR"}
synonym: "gastrointestinal hamartoma" EXACT [NCIT:C96475]
xref: EFO:1000280 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:474435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96475 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000280"}
xref: UMLS:C3272802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474435"}
is_a: MONDO:0005079 {source="EFO:1000280", source="NCIT:C8372", source="NCIT:C96475/inferred"} ! polyp
is_a: MONDO:0006499 {source="MONDO:Redundant", source="NCIT:C8372", source="NCIT:C96475/inferred"} ! hamartoma
is_a: MONDO:0024292 {source="NCIT:C96475"} ! gastrointestinal polyp
intersection_of: MONDO:0006499 ! hamartoma
intersection_of: disease_arises_from_structure UBERON:0005409 ! alimentary part of gastrointestinal system

[Term]
id: MONDO:0006232
name: giant cell tumor of soft tissue
def: "A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." [NCIT:C49107]
subset: otar {source="MONDO:OTAR"}
synonym: "GCT-ST" EXACT [NCIT:C49107]
synonym: "giant cell tumor of soft tissue" EXACT [NCIT:C49107]
synonym: "Osteoclastoma of soft tissue" EXACT [NCIT:C49107]
xref: EFO:1000281 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9251/1 {source="NCIT:C49107"}
xref: MEDGEN:87264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C49107 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000281"}
xref: UMLS:C0334553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87264"}
is_a: MONDO:0002171 {source="MONDO:Redundant", source="NCIT:C49107"} ! giant cell tumor
is_a: MONDO:0005089 {source="EFO:1000281"} ! sarcoma

[Term]
id: MONDO:0006233
name: gonadal teratoma
def: "A teratoma that arises from the testis or ovary." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gonadal teratoma" EXACT [NCIT:C98291]
synonym: "teratoma, gonads" EXACT [NCIT:C98291]
xref: EFO:1000282 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:475575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98291 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C3273942 {source="MONDO:equivalentTo", source="MEDGEN:475575", source="MONDO:MEDGEN"}
is_a: MONDO:0002601 {source="MONDO:Redundant", source="NCIT:C98291"} ! teratoma
is_a: MONDO:0005040 {source="EFO:1000282", source="MONDO:Redundant", source="NCIT:C98291/inferred"} ! germ cell tumor
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_arises_from_structure UBERON:0000991 ! gonad

[Term]
id: MONDO:0006234
name: grade III prostatic intraepithelial neoplasia
def: "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." [NCIT:C3642]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma in situ of prostate" EXACT [NCIT:C3642]
synonym: "adenocarcinoma in situ of the prostate" EXACT [NCIT:C3642]
synonym: "carcinoma in situ of prostate" EXACT [DOID:8634]
synonym: "carcinoma in situ of prostate gland" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "grade 3 pin" EXACT [NCIT:C3642]
synonym: "grade 3 prostatic intraepithelial neoplasia" EXACT [NCIT:C3642]
synonym: "grade III pin" EXACT [DOID:8634, NCIT:C3642]
synonym: "pin III" EXACT [DOID:8634]
synonym: "prostate adenocarcinoma in situ" EXACT [NCIT:C3642]
synonym: "prostate carcinoma in situ" EXACT [MONDO:0004623]
synonym: "prostate gland carcinoma in situ" EXACT []
synonym: "prostate gland in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 prostate gland carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: DOID:8634 {source="MONDO:equivalentTo"}
xref: EFO:1000283 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D07.5 {source="DOID:8634", source="MONDO:equivalentTo"}
xref: ICD9:233.4 {source="DOID:8634", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1684800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3642 {source="EFO:1000283", source="DOID:8634", source="MONDO:equivalentTo"}
xref: SCTID:128640002 {source="DOID:8634"}
xref: SCTID:92691004 {source="DOID:8634", source="MONDO:equivalentTo"}
xref: UMLS:C5200982 {source="MEDGEN:1684800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="DOID:8634", source="MONDO:Redundant"} ! in situ carcinoma
is_a: MONDO:0005193 {source="EFO:1000283", source="NCIT:C3642/inferred"} ! prostate intraepithelial neoplasia
is_a: MONDO:0008315 {source="NCIT:C3642"} ! prostate cancer
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0006235
name: granular cell tumor
def: "An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." [NCIT:C3474]
comment: Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement
subset: gard_rare {source="GARD:9618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Abrikosoff's granulous cell tumor" RELATED [GARD:0009618]
synonym: "Abrikosoff's granulous cell tumour" RELATED OMO:0003005 []
synonym: "Abrikosoff's tumor" RELATED [GARD:0009618]
synonym: "Abrikosoff's tumour" RELATED OMO:0003005 []
synonym: "Abrikosov's tumor" RELATED [GARD:0009618]
synonym: "Abrikosov's tumour" RELATED OMO:0003005 []
synonym: "Abrikosov’s tumor" RELATED [GARD:0009618]
synonym: "Abrikosov’s tumour" RELATED OMO:0003005 []
synonym: "Abrikossoff tumor" EXACT [NCIT:C3474]
synonym: "Abrikossoff tumour" EXACT OMO:0003005 []
synonym: "Abrikossoff's tumor" EXACT [NCIT:C3474]
synonym: "Abrikossoff's tumour" EXACT OMO:0003005 []
synonym: "GCT" RELATED ABBREVIATION [ONCOTREE:GCT]
synonym: "giant granulocellular Abrikosov's tumor" RELATED [GARD:0009618]
synonym: "giant granulocellular Abrikosov's tumour" RELATED OMO:0003005 []
synonym: "granular cell myoblastoma" EXACT [NCIT:C3474]
synonym: "granular cell neoplasm" EXACT [NCIT:C3474]
synonym: "granular cell nerve sheath tumor" EXACT [NCIT:C3474]
synonym: "granular cell nerve sheath tumour" EXACT OMO:0003005 []
synonym: "granular cell schwannoma" EXACT [NCIT:C3474]
synonym: "granular cell tumor" EXACT [NCIT:C3474]
synonym: "granular cell tumor (morphologic abnormality)" EXACT [DOID:2411]
synonym: "granular cell tumor NOS (morphologic abnormality)" NARROW [DOID:2411]
synonym: "granular cell tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "granular cell tumour NOS (morphologic abnormality)" NARROW OMO:0003005 []
synonym: "malignant variant of Abrikosov's tumor" RELATED [GARD:0009618]
synonym: "malignant variant of Abrikosov's tumour" RELATED OMO:0003005 []
synonym: "neoplasm of granular cell" NARROW [DOID:2411, NCIT:C3474]
xref: DOID:2411 {source="MONDO:equivalentTo"}
xref: EFO:1000284 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9618 {source="MONDO:GARD"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9580/0 {source="NCIT:C3474"}
xref: MEDGEN:88345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535558 {source="MONDO:equivalentTo"}
xref: MESH:D016586 {source="DOID:2411", source="MONDO:equivalentTo"}
xref: NCIT:C3474 {source="EFO:1000284", source="DOID:2411", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:GCT {source="MONDO:equivalentTo"}
xref: SCTID:12169001 {source="DOID:2411"}
xref: SCTID:189954007 {source="DOID:2411"}
xref: SCTID:404035005 {source="DOID:2411", source="MONDO:equivalentTo"}
xref: UMLS:C0085167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88345"}
is_a: MONDO:0002547 {source="NCIT:C3474"} ! nerve sheath neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor" xsd:anyURI {source="GARD:0009618"}

[Term]
id: MONDO:0006236
name: obsolete granular cell tumor of the neurohypophysis
is_obsolete: true
replaced_by: MONDO:0003256

[Term]
id: MONDO:0006237
name: granulocytic sarcoma
def: "A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "granulocytic sarcoma" EXACT [NCIT:C35815]
synonym: "sarcoma, granulocytic, malignant" EXACT [NCIT:C35815]
xref: EFO:1000286 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:56275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35815 {source="EFO:1000286", source="MONDO:equivalentTo"}
xref: UMLS:C0152276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56275"}
is_a: MONDO:0005089 {source="EFO:1000286", source="MONDO:Redundant", source="MONDO:indirect"} ! sarcoma
is_a: MONDO:0005170 {source="EFO:1000286", source="MONDO:Redundant", source="NCIT:C35815/inferred"} ! myeloid neoplasm
is_a: MONDO:0006861 {source="NCIT:C35815"} ! myeloid sarcoma

[Term]
id: MONDO:0006238
name: growth hormone-producing pituitary gland adenoma
def: "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." [NCIT:C7461]
subset: disease_grouping
subset: gard_rare {source="GARD:16850", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:96256"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GH cell adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone producing adenoma of pituitary" EXACT [NCIT:C7461]
synonym: "growth hormone producing adenoma of pituitary gland" EXACT [NCIT:C7461]
synonym: "growth hormone producing adenoma of the pituitary" EXACT [DOID:6255, NCIT:C7461]
synonym: "growth hormone producing adenoma of the pituitary gland" EXACT [NCIT:C7461]
synonym: "growth hormone producing pituitary adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone producing pituitary gland adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone secreting adenoma of pituitary" EXACT [DOID:6255, NCIT:C7461]
synonym: "growth hormone secreting adenoma of pituitary gland" EXACT [NCIT:C7461]
synonym: "growth hormone secreting adenoma of the pituitary" EXACT [NCIT:C7461]
synonym: "growth hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C7461]
synonym: "growth hormone secreting pituitary adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone secreting pituitary gland adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone-producing adenoma" EXACT [NCIT:C7461]
synonym: "growth hormone-producing pituitary gland adenoma" EXACT [NCIT:C7461]
synonym: "somatotrope adenoma" EXACT [NCIT:C7461]
synonym: "somatotroph adenoma" EXACT [DOID:6255, NCIT:C7461]
synonym: "Somatotrophinoma" EXACT [NCIT:C7461]
synonym: "somatotropic adenoma" RELATED [Orphanet:96256]
xref: DOID:6255 {source="MONDO:equivalentTo"}
xref: EFO:1000287 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16850 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="Orphanet:96256/nd", source="MONDO:relatedTo", source="Orphanet:96256"}
xref: ICD10CM:E22.0 {source="Orphanet:96256/nd", source="Orphanet:96256"}
xref: MEDGEN:82999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049912 {source="EFO:0004125", source="DOID:6255"}
xref: NANDO:1200385 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200386 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7461 {source="EFO:1000287", source="MONDO:equivalentTo"}
xref: Orphanet:96256 {source="MONDO:equivalentTo"}
xref: SCTID:254957009 {source="MONDO:equivalentTo"}
xref: UMLS:C0278864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82999"}
is_a: MONDO:0006373 {source="DOID:6255/inferred", source="MONDO:Redundant", source="NCIT:C7461", source="Orphanet:96256/inferred"} ! pituitary gland adenoma
is_a: MONDO:0019927 {source="MONDO:Redundant", source="NCIT:C7461"} ! growth hormone-producing pituitary gland neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
intersection_of: realized_in GO:0030252 ! growth hormone secretion

[Term]
id: MONDO:0006239
name: head and neck paraganglioma
def: "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." [NCIT:C5327]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniocervical region paraganglioma" EXACT [MONDO:patterns/location]
synonym: "head and neck paraganglioma" EXACT [NCIT:C5327]
synonym: "paraganglioma of craniocervical region" EXACT [MONDO:design_pattern]
synonym: "paraganglioma of head and neck" EXACT [NCIT:C5327]
synonym: "paraganglioma of the head and neck" EXACT [NCIT:C5327]
xref: EFO:1000288 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5327 {source="MONDO:equivalentTo", source="EFO:1000288", source="MONDO:exact-label-match"}
xref: UMLS:C1333944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232588"}
is_a: MONDO:0000448 {source="MONDO:Redundant", source="NCIT:C5327/inferred"} ! paraganglioma
is_a: MONDO:0005586 {source="EFO:1000288", source="MONDO:Redundant", source="NCIT:C5327"} ! head and neck neoplasm
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: disease_has_location UBERON:0007811 ! craniocervical region
relationship: disease_has_location UBERON:0007811 {source="NCIT:C5327"} ! craniocervical region

[Term]
id: MONDO:0006240
name: obsolete hemangiopericytic neoplasm
is_obsolete: true
replaced_by: MONDO:0002789

[Term]
id: MONDO:0006241
name: hepatic granuloma
def: "A granuloma located in the liver." [NCIT:P378]
comment: Editor note: check neoplasm classification
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000291 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:572.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:155428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4936 {source="MONDO:otherHierarchy", source="EFO:1000291"}
xref: SCTID:714253009 {source="MONDO:equivalentTo"}
xref: UMLS:C0745754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155428"}
is_a: MONDO:0005070 {source="EFO:1000291", source="EFO:1000291/inferred"} ! neoplasm
relationship: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0006242
name: obsolete hepatoblastoma
is_obsolete: true
replaced_by: MONDO:0018666

[Term]
id: MONDO:0006243
name: hepatoid adenocarcinoma
def: "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." [NCIT:C66950]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: otar {source="MONDO:OTAR"}
synonym: "hepatoid adenocarcinoma" EXACT [NCIT:C66950]
synonym: "hepatoid carcinoma" EXACT [NCIT:C66950]
xref: DOID:0060534 {source="MONDO:equivalentTo"}
xref: EFO:1000293 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8576/3 {source="NCIT:C66950"}
xref: MEDGEN:220413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C66950 {source="EFO:1000293", source="DOID:0060534", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1266090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220413"}
is_a: MONDO:0004970 {source="DOID:0060534", source="EFO:1000293", source="MONDO:Redundant", source="NCIT:C66950"} ! adenocarcinoma
relationship: excluded_subClassOf MONDO:0005154 {source="PMID:32258082", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0000-0002-5002-8648"} ! liver disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0006244
name: HER2 positive breast carcinoma
def: "A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)." [NCIT:C53556]
subset: otar {source="MONDO:OTAR"}
synonym: "ERBB2 Overexpressing subtype of breast carcinoma" EXACT [NCIT:C53556]
synonym: "HER2 Overexpressing breast carcinoma" EXACT [NCIT:C53556]
synonym: "HER2 Overexpressing subtype of breast carcinoma" EXACT [NCIT:C53556]
synonym: "HER2 Positive breast cancer" EXACT [NCIT:C53556]
synonym: "HER2 positive breast carcinoma" EXACT [NCIT:C53556]
synonym: "Her2-receptor positive breast cancer" EXACT [MONDO:0000617]
xref: DOID:0060079 {source="MONDO:equivalentTo"}
xref: EFO:1000294 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:743175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53556 {source="EFO:1000294", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:427685000 {source="MONDO:equivalentTo"}
xref: UMLS:C1960398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743175"}
is_a: MONDO:0004989 {source="EFO:1000294", source="MONDO:Redundant", source="NCIT:C53556/inferred"} ! breast carcinoma
is_a: MONDO:0006116 {source="NCIT:C53556"} ! breast carcinoma by gene expression profile
is_a: MONDO:0007254 {source="DOID:0060079", source="NCIT:C53556/inferred"} ! breast cancer
intersection_of: MONDO:0007254 ! breast cancer
intersection_of: disease_has_feature NCIT:C68748 ! HER2/Neu Positive

[Term]
id: MONDO:0006245
name: hidradenocarcinoma
def: "A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." [NCIT:C54664]
subset: otar {source="MONDO:OTAR"}
synonym: "clear cell eccrine carcinoma" EXACT [NCIT:C54664]
synonym: "hidradenocarcinoma" EXACT [NCIT:C54664]
xref: EFO:1000295 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8402/3 {source="NCIT:C54664"}
xref: MEDGEN:137746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54664 {source="EFO:1000295", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0334344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137746"}
is_a: MONDO:0005004 {source="EFO:1000295", source="NCIT:C54664"} ! clear cell adenocarcinoma
is_a: MONDO:0005524 {source="EFO:1000295", source="NCIT:C54664"} ! sweat gland carcinoma

[Term]
id: MONDO:0006246
name: high grade surface osteosarcoma
def: "A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." [NCIT:C53958]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "high grade surface osteosarcoma" EXACT [NCIT:C53958]
synonym: "high-grade surface osteosarcoma" RELATED [ONCOTREE:HGSOS]
xref: EFO:1000296 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9194/3 {source="NCIT:C53958"}
xref: MEDGEN:220428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53958 {source="EFO:1000296", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:HGSOS {source="MONDO:equivalentTo"}
xref: UMLS:C1266165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220428"}
is_a: MONDO:0002628 {source="NCIT:C53958"} ! peripheral osteosarcoma
is_a: MONDO:0009807 {source="EFO:1000296", source="MONDO:Redundant", source="NCIT:C53958/inferred", source="ONCOTREE:HGSOS"} ! osteosarcoma

[Term]
id: MONDO:0006247
name: histiocytic and dendritic cell neoplasm
def: "Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" [NCIT:C9294]
subset: disease_grouping
subset: gard_rare {source="GARD:19441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98287"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "histiocytic and dendritic cell" RELATED [DOID:5621]
synonym: "histiocytic and dendritic cell cancer" RELATED [DOID:5621]
synonym: "histiocytic and dendritic cell neoplasm" EXACT [NCIT:C9294]
synonym: "histiocytic and Dendritic cell neoplasms" EXACT [NCIT:C9294]
synonym: "histiocytic and dendritic cell tumor" RELATED [Orphanet:98287]
synonym: "histiocytic and Dendritic cell tumors" EXACT [NCIT:C9294]
synonym: "histiocytic and dendritic cell tumour" RELATED OMO:0003005 []
synonym: "histiocytic and Dendritic cell tumours" EXACT OMO:0003005 []
xref: DOID:5621 {source="MONDO:equivalentTo"}
xref: EFO:1000297 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19441 {source="MONDO:GARD"}
xref: MEDGEN:232291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9294 {source="EFO:1000297", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:98287 {source="MONDO:equivalentTo"}
xref: UMLS:C1334030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232291"}
is_a: MONDO:0005070 {source="DOID:5621/inferred", source="EFO:1000297", source="NCIT:C9294/inferred"} ! neoplasm
is_a: MONDO:0015757 {source="Orphanet:98287"} ! lymphoid hemopathy
is_a: MONDO:0044881 {source="NCIT:C9294"} ! hematopoietic and lymphoid cell neoplasm

[Term]
id: MONDO:0006248
name: hydatidiform mole
def: "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." [NCIT:C3110]
subset: gard_rare {source="GARD:10263", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99927"}
subset: orphanet_rare {source="Orphanet:99927"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydatid mole" EXACT [NCIT:C3110]
synonym: "hydatidiform mole" EXACT [MONDO:0020551, NCIT:C3110]
synonym: "hydatidiform mole, recurrent" RELATED [OMIMPS:231090]
synonym: "HYDM" RELATED ABBREVIATION [GARD:0010263]
synonym: "molar pregnancy" EXACT [NCIT:C3110, Orphanet:99927]
xref: EFO:1000298 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10263 {source="MONDO:GARD"}
xref: ICD10CM:O00-O08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:O01.0 {source="Orphanet:99927/btnt", source="Orphanet:99927"}
xref: ICD10CM:O01.1 {source="Orphanet:99927/btnt", source="Orphanet:99927"}
xref: ICD10CM:O01.9 {source="Orphanet:99927/btnt", source="Orphanet:99927"}
xref: icd11.foundation:946166369 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99927"}
xref: ICD9:631 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9100/0 {source="NCIT:C3110"}
xref: MedDRA:10020481 {source="Orphanet:99927/e", source="Orphanet:99927"}
xref: MEDGEN:9329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006828 {source="Orphanet:99927/e", source="MONDO:equivalentTo", source="Orphanet:99927"}
xref: NCIT:C3110 {source="EFO:1000298", source="MONDO:equivalentTo"}
xref: OMIMPS:231090 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MP {source="MONDO:equivalentTo"}
xref: Orphanet:99927 {source="MONDO:equivalentTo"}
xref: SCTID:44782008 {source="MONDO:equivalentTo"}
xref: UMLS:C0020217 {source="MONDO:equivalentTo", source="MEDGEN:9329", source="MONDO:MEDGEN"}
is_a: MONDO:0002872 {source="PMID:26421650"} ! trophoblastic neoplasm
relationship: disease_has_location UBERON:0001987 ! placenta
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:231090"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1611" xsd:anyURI
property_value: IAO:0000233 "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/78" xsd:anyURI

[Term]
id: MONDO:0006249
name: hyperplastic polyp
def: "A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." [NCIT:C4083]
subset: otar {source="MONDO:OTAR"}
synonym: "HP" EXACT ABBREVIATION [NCIT:C4083]
synonym: "metaplastic polyp" EXACT [NCIT:C4083]
synonym: "MP" EXACT ABBREVIATION [NCIT:C4083]
xref: EFO:1000299 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:87189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4083 {source="MONDO:equivalentTo", source="EFO:1000299"}
xref: UMLS:C0333983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87189"}
is_a: MONDO:0005079 {source="EFO:1000299", source="NCIT:C4083/inferred"} ! polyp
relationship: disease_has_location UBERON:0001007 ! digestive system

[Term]
id: MONDO:0006250
name: ileal neuroendocrine tumor G1
alt_id: MONDO:0021536
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4935]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid tumor of ileum" EXACT [NCIT:C4935]
synonym: "carcinoid tumor of the ileum" EXACT [NCIT:C4935]
synonym: "carcinoid tumour of ileum" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the ileum" EXACT OMO:0003005 []
synonym: "grade 1 neuroendocrine neoplasm of ileum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "ileal carcinoid tumor" EXACT [NCIT:C4935]
synonym: "ileal carcinoid tumour" EXACT OMO:0003005 []
synonym: "ileal NET G1" EXACT [NCIT:C4935]
synonym: "ileal neuroendocrine tumor G1" EXACT [NCIT:C4935]
synonym: "ileum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "ileum carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "ileum carcinoid tumour" EXACT OMO:0003005 []
synonym: "ileum carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "ileum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "ileum neuroendocrine neoplasm G1" EXACT []
synonym: "ileum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000300 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:209.03 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:155426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4935 {source="EFO:1000300", source="MONDO:equivalentTo"}
xref: SCTID:425318003 {source="MONDO:equivalentTo"}
xref: UMLS:C0745216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155426"}
is_a: MONDO:0000540 {source="MONDO:Redundant", source="NCIT:C4935"} ! small intestinal neuroendocrine tumor G1
is_a: MONDO:0005369 {source="EFO:1000300", source="MONDO:Redundant", source="NCIT:C4935/inferred"} ! carcinoid tumor
is_a: MONDO:0005401 {source="EFO:1000300", source="MONDO:Redundant"} ! colonic neoplasm
is_a: MONDO:0006801 {source="MONDO:Redundant", source="NCIT:C4935/inferred"} ! ileal neoplasm
is_a: MONDO:0015065 {source="MONDO:Redundant", source="NCIT:C4935"} ! ileal neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C4935/inferred"} ! intestinal neuroendocrine tumor G1
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002116 ! ileum
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0006251
name: obsolete inclusion body fibromatosis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4093" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016039

[Term]
id: MONDO:0006252
name: obsolete infiltrating bladder lymphoepithelioma-like carcinoma
is_obsolete: true
replaced_by: MONDO:0004299

[Term]
id: MONDO:0006253
name: obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant
is_obsolete: true
replaced_by: MONDO:0004278

[Term]
id: MONDO:0006254
name: intestinal type adenocarcinoma
def: "An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." [NCIT:C4126]
subset: otar {source="MONDO:OTAR"}
synonym: "intestinal type carcinoma" EXACT [NCIT:C4126]
synonym: "intestinal-type adenocarcinoma" EXACT [NCIT:C4126]
xref: EFO:1000304 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8144/3 {source="NCIT:C4126"}
xref: MEDGEN:87206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4126 {source="MONDO:equivalentTo", source="EFO:1000304", source="MONDO:exact-label-match"}
xref: UMLS:C0334279 {source="MEDGEN:87206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="EFO:1000304", source="NCIT:C4126"} ! adenocarcinoma
relationship: disease_arises_from_structure UBERON:0001277 ! intestinal epithelium

[Term]
id: MONDO:0006255
name: intimal sarcoma
def: "A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." [NCIT:C53677]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "INTS" RELATED ABBREVIATION [ONCOTREE:INTS]
xref: EFO:1000305 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:317791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53677 {source="MONDO:equivalentTo", source="EFO:1000305"}
xref: ONCOTREE:INTS {source="MONDO:equivalentTo"}
xref: UMLS:C1708550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:317791"}
is_a: MONDO:0002927 {source="NCIT:C53677"} ! spindle cell sarcoma
is_a: MONDO:0005089 {source="EFO:1000305", source="MONDO:Redundant", source="NCIT:C53677/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C53677"} ! soft tissue sarcoma
relationship: disease_arises_from_structure UBERON:0001981 ! blood vessel

[Term]
id: MONDO:0006256
name: invasive breast carcinoma
def: "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." [NCIT:C9245]
subset: otar {source="MONDO:OTAR"}
synonym: "BRCA" RELATED ABBREVIATION [ONCOTREE:BRCA]
synonym: "infiltrating breast cancer" EXACT [NCIT:C9245]
synonym: "infiltrating breast carcinoma" EXACT [NCIT:C9245]
synonym: "infiltrating carcinoma of breast" EXACT [NCIT:C9245]
synonym: "infiltrating carcinoma of the breast" EXACT [NCIT:C9245]
synonym: "invasive breast cancer" EXACT [NCIT:C9245]
synonym: "invasive breast carcinoma" EXACT [NCIT:C9245]
synonym: "invasive carcinoma of breast" EXACT [NCIT:C9245]
synonym: "invasive carcinoma of the breast" EXACT [NCIT:C9245]
synonym: "invasive mammary carcinoma" EXACT [NCIT:C9245]
xref: EFO:1000307 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:163435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9245 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000307"}
xref: ONCOTREE:BRCA {source="MONDO:equivalentTo"}
xref: SCTID:713609000 {source="MONDO:equivalentTo"}
xref: UMLS:C0853879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163435"}
is_a: MONDO:0004989 {source="EFO:1000307", source="MONDO:Redundant", source="NCIT:C9245"} ! breast carcinoma
intersection_of: MONDO:0004989 ! breast carcinoma
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0006257
name: jejunal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6429]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid tumor of jejunum" EXACT [NCIT:C6429]
synonym: "carcinoid tumor of the jejunum" EXACT [NCIT:C6429]
synonym: "carcinoid tumour of jejunum" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the jejunum" EXACT OMO:0003005 []
synonym: "grade 1 neuroendocrine neoplasm of jejunum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "jejunal carcinoid tumor" EXACT [NCIT:C6429]
synonym: "jejunal carcinoid tumour" EXACT OMO:0003005 []
synonym: "jejunal NET G1" EXACT [NCIT:C6429]
synonym: "jejunum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "jejunum carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "jejunum carcinoid tumour" EXACT OMO:0003005 []
synonym: "jejunum carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "jejunum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "jejunum neuroendocrine neoplasm G1" EXACT []
synonym: "jejunum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: EFO:1000308 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6429 {source="MONDO:equivalentTo", source="EFO:1000308"}
xref: UMLS:C1334296 {source="MEDGEN:235235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000540 {source="MONDO:Redundant", source="NCIT:C6429"} ! small intestinal neuroendocrine tumor G1
is_a: MONDO:0002564 {source="NCIT:C6429/inferred"} ! jejunal neoplasm
is_a: MONDO:0005369 {source="EFO:1000308", source="MONDO:Redundant", source="NCIT:C6429/inferred"} ! carcinoid tumor
is_a: MONDO:0005401 {source="EFO:1000308", source="MONDO:Redundant"} ! colonic neoplasm
is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C6429/inferred"} ! intestinal neuroendocrine tumor G1
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002115 ! jejunum
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0006258
name: juvenile polyp
def: "A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." [NCIT:C3826]
subset: otar {source="MONDO:OTAR"}
synonym: "juvenile polyp" EXACT [NCIT:C3826]
synonym: "retention polyp" EXACT [NCIT:C3826]
xref: EFO:1000310 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:113158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3826 {source="MONDO:equivalentTo", source="EFO:1000310", source="MONDO:exact-label-match"}
xref: UMLS:C0221273 {source="MONDO:equivalentTo", source="MEDGEN:113158", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:1000310", source="MONDO:Redundant", source="NCIT:C3826/inferred"} ! polyp
is_a: MONDO:0006231 {source="NCIT:C3826"} ! gastrointestinal hamartoma

[Term]
id: MONDO:0006259
name: obsolete juvenile xanthogranuloma
is_obsolete: true
replaced_by: MONDO:0015534

[Term]
id: MONDO:0006260
name: kidney medullary carcinoma
alt_id: MONDO:0017888
def: "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." [NCIT:C7572]
subset: gard_rare {source="GARD:13175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1999"}
subset: ordo_disorder {source="Orphanet:319319"}
subset: orphanet_rare {source="Orphanet:319319"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of renal medulla" EXACT [MONDO:patterns/carcinoma]
synonym: "kidney medullary carcinoma" EXACT [NCIT:C7572]
synonym: "renal medulla carcinoma" EXACT []
synonym: "Renal Medullary Carcinoma" EXACT [NORD:1999]
synonym: "renal medullary carcinoma" EXACT [NCIT:C7572]
xref: DOID:0070475 {source="MONDO:equivalentTo"}
xref: EFO:1000314 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13175 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:319319/ntbt", source="Orphanet:319319"}
xref: MedDRA:10064886 {source="Orphanet:319319", source="Orphanet:319319/e"}
xref: MEDGEN:888108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7572 {source="MONDO:equivalentTo", source="EFO:1000314"}
xref: NORD:1999 {source="MONDO:NORD"}
xref: ONCOTREE:MRC {source="MONDO:equivalentTo"}
xref: Orphanet:319319 {source="MONDO:equivalentTo"}
xref: UMLS:C4049328 {source="MONDO:equivalentTo", source="MEDGEN:888108", source="MONDO:MEDGEN"}
is_a: MONDO:0005086 {source="ONCOTREE:MRC/inferred", source="Orphanet:319319"} ! renal cell carcinoma
is_a: MONDO:0005206 {source="EFO:1000314", source="NCIT:C7572"} ! renal carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000362 ! renal medulla

[Term]
id: MONDO:0006262
name: lacrimal gland adenoid cystic carcinoma
def: "A adenoid cystic carcinoma that involves the lacrimal gland." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of lacrimal gland" EXACT [DOID:4870, NCIT:C4540]
synonym: "adenoid cystic carcinoma of the lacrimal gland" EXACT [NCIT:C4540]
synonym: "lacrimal gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C4540]
xref: DOID:4870 {source="MONDO:equivalentTo"}
xref: EFO:1000317 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:87555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4540 {source="DOID:4870", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000317"}
xref: SCTID:254987003 {source="DOID:4870", source="MONDO:equivalentTo"}
xref: UMLS:C0346340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87555"}
is_a: MONDO:0002463 {source="DOID:4870/inferred", source="MONDO:Redundant", source="NCIT:C4540"} ! lacrimal gland carcinoma
is_a: MONDO:0002475 {source="DOID:4870", source="MONDO:Redundant"} ! lacrimal gland adenocarcinoma
is_a: MONDO:0004971 {source="EFO:1000317", source="MONDO:Redundant", source="NCIT:C4540"} ! adenoid cystic carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0006263
name: obsolete Langerhans cell histiocytosis
is_obsolete: true
replaced_by: MONDO:0018310

[Term]
id: MONDO:0006264
name: laryngeal adenoid cystic carcinoma
def: "A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases." [NCIT:C9462]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of larynx" EXACT [DOID:4869, NCIT:C9462]
synonym: "adenoid cystic carcinoma of the larynx" EXACT [NCIT:C9462]
synonym: "laryngeal adenoid cystic carcinoma" EXACT [NCIT:C9462]
synonym: "laryngeal throat adenoid cystic cancer" EXACT [NCIT:C9462]
xref: DOID:4869 {source="MONDO:equivalentTo"}
xref: EFO:1000319 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9462 {source="MONDO:equivalentTo", source="DOID:4869", source="MONDO:exact-label-match", source="EFO:1000319"}
xref: UMLS:C1334368 {source="MEDGEN:232690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002358 {source="DOID:4869", source="MONDO:Redundant", source="NCIT:C9462"} ! laryngeal carcinoma
is_a: MONDO:0004971 {source="EFO:1000319", source="MONDO:Redundant", source="NCIT:C9462"} ! adenoid cystic carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0006265
name: laryngeal small cell carcinoma
def: "A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course." [NCIT:C6025]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "laryngeal small cell carcinoma" EXACT [NCIT:C6025]
synonym: "laryngeal throat small cell cancer" EXACT [NCIT:C6025]
synonym: "larynx small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6025]
synonym: "small cell carcinoma of larynx" EXACT [DOID:7144, NCIT:C6025]
synonym: "small cell carcinoma of the larynx" EXACT [NCIT:C6025]
xref: DOID:7144 {source="MONDO:equivalentTo"}
xref: EFO:1000320 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6025 {source="EFO:1000320", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7144"}
xref: UMLS:C1334378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233611"}
is_a: MONDO:0000402 {source="DOID:7144", source="MONDO:Redundant", source="NCIT:C6025"} ! small cell carcinoma
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C6025/inferred"} ! head and neck carcinoma
is_a: MONDO:0002358 {source="DOID:7144", source="MONDO:Redundant", source="NCIT:C6025"} ! laryngeal carcinoma
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C6025/inferred"} ! head and neck cancer
is_a: MONDO:0015070 {source="MONDO:Redundant", source="NCIT:C6025"} ! laryngeal neuroendocrine neoplasm
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0006266
name: Leydig cell tumor
def: "A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." [NCIT:C3188]
comment: Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor
subset: otar {source="MONDO:OTAR"}
synonym: "interstitial cell neoplasm" EXACT [NCIT:C3188]
synonym: "interstitial cell tumor" EXACT [NCIT:C3188]
synonym: "interstitial cell tumour" EXACT OMO:0003005 []
synonym: "Leydig cell neoplasm" EXACT [DOID:2696, NCIT:C3188]
synonym: "Leydig cell tumor" EXACT [NCIT:C3188]
synonym: "Leydig cell tumor, undetermined" RELATED [NCIT:C3188]
xref: DOID:2696 {source="MONDO:equivalentTo"}
xref: EFO:1000321 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8650/1 {source="NCIT:C3188"}
xref: MEDGEN:9747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007984 {source="DOID:2696", source="MONDO:equivalentTo"}
xref: NCIT:C3188 {source="DOID:2696", source="MONDO:equivalentTo", source="EFO:1000321", source="NCIT:C3188", source="MONDO:exact-label-match"}
xref: SCTID:189739005 {source="DOID:2696"}
xref: SCTID:45002009 {source="DOID:2696"}
xref: UMLS:C0023601 {source="MONDO:equivalentTo", source="MEDGEN:9747", source="MONDO:MEDGEN"}
is_a: MONDO:0006055 {source="DOID:2696/inferred", source="NCIT:C3188"} ! sex cord-stromal tumor

[Term]
id: MONDO:0006267
name: liver cavernous hemangioma
def: "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." [NCIT:C96839]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cavernous hemangioma of liver" EXACT [MONDO:design_pattern]
synonym: "liver cavernous hemangioma" EXACT [MONDO:patterns/location, NCIT:C96839]
xref: MEDGEN:482990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96839 {source="EFO:1000322", source="MONDO:equivalentTo"}
xref: UMLS:C3282904 {source="MEDGEN:482990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002404 {source="MONDO:Redundant", source="NCIT:C96839"} ! liver hemangioma
is_a: MONDO:0003155 {source="MONDO:Redundant", source="NCIT:C96839"} ! cavernous hemangioma
is_a: MONDO:0005070 {source="EFO:1000322", source="EFO:1000322/inferred", source="MONDO:Redundant", source="NCIT:C96839/inferred"} ! neoplasm
intersection_of: MONDO:0003155 ! cavernous hemangioma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0006268
name: liver diffuse large B-cell lymphoma
def: "A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." [NCIT:C96843]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse large B-cell lymphoma of liver" EXACT [MONDO:design_pattern]
synonym: "hepatic diffuse large B-cell lymphoma" EXACT [NCIT:C96843]
synonym: "liver diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C96843]
synonym: "primary hepatic diffuse large B-cell lymphoma" EXACT [NCIT:C96843]
synonym: "primary liver diffuse large B-cell lymphoma" EXACT [NCIT:C96843]
xref: EFO:1000323 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:473542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96843 {source="MONDO:equivalentTo", source="EFO:1000323", source="MONDO:exact-label-match"}
xref: UMLS:C2184126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473542"}
is_a: MONDO:0004695 {source="MONDO:Redundant", source="NCIT:C96843/inferred"} ! liver lymphoma
is_a: MONDO:0007256 {source="EFO:1000323"} ! hepatocellular carcinoma
is_a: MONDO:0018905 {source="EFO:1000323", source="MONDO:Redundant", source="NCIT:C96843"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma
intersection_of: disease_has_location UBERON:0002107 ! liver
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0006269
name: obsolete liver inflammatory myofibroblastic tumor
is_obsolete: true
replaced_by: MONDO:0004726

[Term]
id: MONDO:0006270
name: lobular breast carcinoma in situ
def: "A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." [NCIT:C4018]
subset: otar {source="MONDO:OTAR"}
synonym: "breast lobular carcinoma in situ" RELATED [ONCOTREE:LCIS]
synonym: "LCIS" EXACT ABBREVIATION [NCIT:C4018]
synonym: "lobular breast carcinoma in situ" EXACT [NCIT:C4018]
synonym: "lobular Ca in situ of breast" EXACT [NCIT:C4018]
synonym: "lobular Ca in situ of the breast" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ (LCIS)" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ of breast" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ of the breast" EXACT [NCIT:C4018]
synonym: "lobular carcinoma in situ of the breast (LCIS)" EXACT [NCIT:C4018]
synonym: "non-infiltrating lobular breast carcinoma" EXACT [NCIT:C4018]
synonym: "non-infiltrating lobular carcinoma" EXACT [NCIT:C4018]
synonym: "non-infiltrating lobular carcinoma of breast" EXACT [NCIT:C4018]
synonym: "non-infiltrating lobular carcinoma of the breast" EXACT [NCIT:C4018]
synonym: "non-invasive lobular breast carcinoma" EXACT [NCIT:C4018]
synonym: "non-invasive lobular carcinoma of breast" EXACT [NCIT:C4018]
synonym: "non-invasive lobular carcinoma of the breast" EXACT [NCIT:C4018]
xref: EFO:1000326 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8520/2 {source="NCIT:C4018"}
xref: MEDGEN:79007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4018 {source="MONDO:equivalentTo", source="EFO:1000326"}
xref: ONCOTREE:LCIS {source="MONDO:equivalentTo"}
xref: SCTID:109888004 {source="MONDO:equivalentTo"}
xref: UMLS:C0279563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79007"}
is_a: MONDO:0002486 {source="NCIT:C4018"} ! lobular neoplasia
is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C4018/inferred"} ! adenocarcinoma in situ
is_a: MONDO:0004988 {source="EFO:1000326", source="MONDO:Redundant", source="NCIT:C4018/inferred"} ! breast adenocarcinoma

[Term]
id: MONDO:0006271
name: low grade central osteosarcoma
def: "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." [NCIT:C6474]
synonym: "intraosseous well-differentiated osteogenic sarcoma" EXACT [NCIT:C6474]
synonym: "intraosseous well-differentiated osteosarcoma" EXACT [NCIT:C6474]
synonym: "low grade central osteosarcoma" EXACT [NCIT:C6474]
synonym: "low grade intramedullary osteosarcoma" EXACT [NCIT:C6474]
synonym: "low-grade central osteosarcoma" RELATED [ONCOTREE:LGCOS]
synonym: "low-grade intramedullary osteosarcoma" EXACT [NCIT:C6474]
xref: ICDO:9187/3 {source="NCIT:C6474"}
xref: MEDGEN:818980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6474 {source="MONDO:equivalentTo", source="EFO:1000327"}
xref: ONCOTREE:LGCOS {source="MONDO:equivalentTo"}
xref: UMLS:C3814534 {source="MEDGEN:818980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009807 {source="EFO:1000327", source="MONDO:Redundant", source="NCIT:C6474/inferred", source="ONCOTREE:LGCOS"} ! osteosarcoma
intersection_of: MONDO:0009807 ! osteosarcoma
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0006272
name: low grade fibromyxoid sarcoma
def: "A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." [NCIT:C45202]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "low grade fibromyxoid sarcoma" EXACT [NCIT:C45202]
synonym: "low-grade fibromyxoid sarcoma" RELATED [ONCOTREE:LGFMS]
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45202 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000328"}
xref: ONCOTREE:LGFMS {source="MONDO:equivalentTo"}
xref: SCTID:404088004 {source="MONDO:equivalentTo"}
xref: UMLS:C1275282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224814"}
is_a: MONDO:0005164 {source="EFO:1000328", source="MONDO:Redundant", source="NCIT:C45202/inferred"} ! fibrosarcoma
intersection_of: MONDO:0005164 ! fibrosarcoma
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0006273
name: low grade fibromyxoid sarcoma with giant collagen rosettes
def: "A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyalinizing spindle cell tumor with giant Rosettes" EXACT [NCIT:C45203]
synonym: "hyalinizing spindle cell tumour with giant Rosettes" EXACT OMO:0003005 []
xref: EFO:1000329 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:310942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45203 {source="MONDO:equivalentTo", source="EFO:1000329"}
xref: UMLS:C1708749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:310942"}
is_a: MONDO:0005164 {source="EFO:1000329", source="MONDO:Redundant", source="NCIT:C45203/inferred"} ! fibrosarcoma
is_a: MONDO:0006272 {source="NCIT:C45203"} ! low grade fibromyxoid sarcoma

[Term]
id: MONDO:0006274
name: low grade vulvar intraepithelial neoplasia
def: "An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "grade 1 VIN" EXACT [NCIT:C4760]
synonym: "grade 1 vulvar intraepithelial neoplasia" EXACT [NCIT:C4760]
synonym: "grade I VIN" EXACT [NCIT:C4760]
synonym: "grade I vulvar intraepithelial neoplasia" EXACT [NCIT:C4760]
synonym: "intraepithelial neoplasia of the vulva grade 1" EXACT [NCIT:C4760]
synonym: "intraepithelial neoplasia of vulva grade 1" EXACT [NCIT:C4760]
synonym: "low grade VIN" EXACT [NCIT:C4760]
synonym: "VIN 1" EXACT [NCIT:C4760]
synonym: "VIN 1 of usual type" EXACT [NCIT:C4760]
synonym: "VIN grade 1" EXACT [NCIT:C4760]
synonym: "vulva intraepithelial neoplasia grade 1" EXACT [NCIT:C4760]
synonym: "vulvar flat condyloma" EXACT [NCIT:C4760]
synonym: "vulvar intraepithelial neoplasia 1 of usual type" EXACT [NCIT:C4760]
synonym: "vulvar intraepithelial neoplasia grade 1" EXACT [NCIT:C4760]
synonym: "vulvar Low grade squamous intraepithelial lesion" EXACT [NCIT:C4760]
synonym: "vulvar Low-grade squamous intraepithelial lesion" EXACT [NCIT:C4760]
synonym: "vulvar mild squamous dysplasia" EXACT [NCIT:C4760]
xref: EFO:1000330 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:99217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4760 {source="EFO:1000330", source="MONDO:equivalentTo"}
xref: UMLS:C0495106 {source="MEDGEN:99217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005198 {source="EFO:1000330", source="MONDO:Entailed", source="MONDO:Redundant"} ! vulvar intraepithelial neoplasia
intersection_of: MONDO:0005198 ! vulvar intraepithelial neoplasia
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0006275
name: lung giant cell carcinoma
def: "A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "GCLC" RELATED ABBREVIATION [ONCOTREE:GCLC]
synonym: "giant cell carcinoma" BROAD [DOID:5583, NCIT:C3779]
synonym: "giant cell carcinoma of lung" EXACT [NCIT:C4452]
synonym: "giant cell carcinoma of the lung" EXACT [NCIT:C4452]
synonym: "giant cell lung carcinoma" EXACT [DOID:5583, NCIT:C4452]
synonym: "lung giant cell carcinoma" EXACT [NCIT:C4452]
xref: DOID:5583 {source="MONDO:equivalentTo"}
xref: EFO:1000332 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018286 {source="MONDO:equivalentTo", source="DOID:5583"}
xref: NCIT:C3779 {source="DOID:5583"}
xref: NCIT:C4452 {source="MONDO:equivalentTo", source="EFO:1000332", source="DOID:5583"}
xref: ONCOTREE:GCLC {source="MONDO:equivalentTo"}
xref: SCTID:254631008 {source="MONDO:equivalentTo", source="DOID:5583"}
xref: SCTID:42596004 {source="DOID:5583"}
xref: UMLS:C0345960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83392"}
is_a: MONDO:0003050 {source="DOID:5583", source="MONDO:Redundant", source="ONCOTREE:GCLC"} ! lung large cell carcinoma
is_a: MONDO:0006279 {source="NCIT:C4452"} ! lung sarcomatoid carcinoma

[Term]
id: MONDO:0006276
name: lung inflammatory myofibroblastic tumor
def: "An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C39740]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammatory myofibroblastic lung tumor" RELATED [ONCOTREE:IMTL]
synonym: "inflammatory myofibroblastic lung tumour" RELATED OMO:0003005 []
synonym: "lung inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location, NCIT:C39740]
xref: EFO:1000333 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8827/1 {source="NCIT:C39740"}
xref: MEDGEN:273512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39740 {source="EFO:1000333", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:IMTL {source="MONDO:equivalentTo"}
xref: UMLS:C1518038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273512"}
is_a: MONDO:0005138 {source="EFO:1000333"} ! lung carcinoma
is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C39740"} ! inflammatory myofibroblastic tumor
intersection_of: MONDO:0015798 ! inflammatory myofibroblastic tumor
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0006277
name: lung lymphangioleiomyomatosis
def: "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." [NCIT:C38153]
subset: gard_rare {source="GARD:3319", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:538"}
subset: orphanet_rare {source="Orphanet:538"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung lymphangioleiomyomatosis" EXACT [MONDO:patterns/location, NCIT:C38153]
synonym: "lung lymphangiomyomatosis" EXACT [NCIT:C38153]
synonym: "Lymphangioleiomyomatosis" BROAD [NORD:1381]
synonym: "lymphangioleiomyomatosis" BROAD [DOID:3319]
synonym: "lymphangiomyomatosis" RELATED EXCLUDE [DOID:3319]
synonym: "pulmonary lymphangioleiomyomatosis" EXACT []
synonym: "pulmonary lymphangiomyomatosis" RELATED [ONCOTREE:LAM]
xref: DOID:3319 {source="MONDO:equivalentTo"}
xref: EFO:1000334 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3319 {source="MONDO:GARD"}
xref: ICD10CM:D48.7 {source="Orphanet:538", source="Orphanet:538/attributed", source="Orphanet:538/ntbt"}
xref: icd11.foundation:902628446 {source="MONDO:equivalentTo", source="Orphanet:538", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049459 {source="Orphanet:538", source="Orphanet:538/e"}
xref: MEDGEN:91161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018192 {source="Orphanet:538", source="Orphanet:538/e"}
xref: NCIT:C38153 {source="MONDO:equivalentTo", source="EFO:1000334"}
xref: ONCOTREE:LAM {source="MONDO:equivalentTo"}
xref: Orphanet:538 {source="MONDO:equivalentTo", source="OMIM:606690"}
xref: SCTID:277844007 {source="MONDO:equivalentTo", source="DOID:3319"}
xref: UMLS:C0349649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91161"}
is_a: MONDO:0005087 {source="Orphanet:538"} ! respiratory system disorder
is_a: MONDO:0011705 {source="MONDO:Redundant", source="NCIT:C38153"} ! lymphangioleiomyomatosis
intersection_of: MONDO:0011705 ! lymphangioleiomyomatosis
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: excluded_subClassOf MONDO:0005138 {source="EFO:1000334", source="https://orcid.org/0000-0001-5208-3432"} ! lung carcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4016" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0006278
name: lung papilloma
def: "A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction." [NCIT:C8295]
subset: otar {source="MONDO:OTAR"}
synonym: "lung papilloma" EXACT [MONDO:patterns/location, NCIT:C8295]
synonym: "papilloma of respiratory tract" EXACT [NCIT:C8295]
synonym: "papilloma of the respiratory tract" EXACT [NCIT:C8295]
synonym: "respiratory tract papilloma" EXACT [NCIT:C8295]
xref: EFO:1000335 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1709750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8295 {source="MONDO:equivalentTo", source="EFO:1000335", source="MONDO:exact-label-match"}
xref: UMLS:C5397991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709750"}
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C8295"} ! papilloma
is_a: MONDO:0005070 {source="EFO:1000335", source="MONDO:Redundant", source="NCIT:C8295/inferred"} ! neoplasm
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0006279
name: lung sarcomatoid carcinoma
def: "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." [NCIT:C45540]
subset: otar {source="MONDO:OTAR"}
synonym: "lung sarcomatoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C45540]
synonym: "sarcomatoid carcinoma of the lung" RELATED [ONCOTREE:SARCL]
xref: DOID:0080777 {source="MONDO:equivalentTo"}
xref: EFO:1000336 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:353871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45540 {source="MONDO:equivalentTo", source="EFO:1000336", source="MONDO:exact-label-match"}
xref: ONCOTREE:SARCL {source="MONDO:equivalentTo"}
xref: SCTID:707460002 {source="MONDO:equivalentTo"}
xref: UMLS:C1708781 {source="MONDO:equivalentTo", source="MEDGEN:353871", source="MONDO:MEDGEN"}
is_a: MONDO:0005232 {source="EFO:1000336", source="MONDO:Redundant"} ! large cell carcinoma
is_a: MONDO:0005233 {source="MONDO:Redundant", source="NCIT:C45540"} ! non-small cell lung carcinoma
is_a: MONDO:0006406 {source="MONDO:Redundant", source="NCIT:C45540"} ! sarcomatoid carcinoma
intersection_of: MONDO:0006406 ! sarcomatoid carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0006280
name: lung sclerosing hemangioma
alt_id: MONDO:0006934
def: "A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic." [NCIT:C5656]
comment: Editor note: we believe the two disease ontology (DO) classes are equivalent.
subset: otar {source="MONDO:OTAR"}
synonym: "lung sclerosing angioma" EXACT [NCIT:C5656]
synonym: "lung sclerosing hemangioma" EXACT [NCIT:C5656]
synonym: "Pneumocytoma" EXACT [DOID:5766, NCIT:C5656]
synonym: "pulmonary sclerosing hemangioma" RELATED [DOID:5766]
synonym: "sclerosing angioma of lung" EXACT [NCIT:C5656]
synonym: "sclerosing angioma of the lung" EXACT [NCIT:C5656]
synonym: "sclerosing haemangioma" EXACT [DOID:495]
synonym: "sclerosing hemangioma" EXACT [DOID:495]
synonym: "sclerosing hemangioma of lung" EXACT [NCIT:C5656]
synonym: "sclerosing hemangioma of the lung" EXACT [NCIT:C5656]
synonym: "sclerosing Pneumocytoma" EXACT [NCIT:C5656]
xref: DOID:495 {source="MONDO:equivalentTo"}
xref: DOID:5766 {source="EFO:1001136", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:1000337 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:734262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D047868 {source="DOID:5766", source="EFO:1001136", source="MONDO:equivalentTo"}
xref: NCIT:C5656 {source="DOID:5766", source="MONDO:equivalentTo", source="EFO:1000337"}
xref: SCTID:134302009 {source="DOID:495"}
xref: SCTID:707365008 {source="DOID:5766", source="EFO:1001136", source="MONDO:equivalentTo"}
xref: SCTID:72079004 {source="DOID:495"}
xref: UMLS:C1509148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:734262"}
is_a: MONDO:0003194 {source="DOID:5766", source="MONDO:Redundant"} ! hemangioma of lung
is_a: MONDO:0006500 {source="DOID:495", source="DOID:5766/inferred", source="EFO:1001136", source="MONDO:indirect"} ! hemangioma
is_a: MONDO:0021117 {source="MESH:D047868", source="NCIT:C5656", source="NCIT:C5656/inferred"} ! lung neoplasm
relationship: excluded_subClassOf MONDO:0005138 {source="EFO:1000337", source="https://orcid.org/0000-0001-5208-3432"} ! lung carcinoma
relationship: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0006281
name: lung signet ring cell carcinoma
def: "A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." [NCIT:C45514]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung signet ring cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "signet ring lung adenocarcinoma" RELATED [DOID:0080305]
xref: DOID:0080305 {source="MONDO:equivalentTo"}
xref: EFO:1000338 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:310950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45514 {source="MONDO:equivalentTo", source="EFO:1000338"}
xref: SCTID:707407001 {source="MONDO:equivalentTo"}
xref: UMLS:C1708782 {source="MEDGEN:310950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005061 {source="DOID:0080305", source="EFO:1000338", source="MONDO:Redundant"} ! lung adenocarcinoma
is_a: MONDO:0005092 {source="EFO:1000338", source="MONDO:Redundant"} ! signet ring cell carcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0006282
name: lymphangiosarcoma
def: "A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." [NCIT:C3205]
subset: otar {source="MONDO:OTAR"}
synonym: "lymphangioendothelial sarcoma" EXACT [NCIT:C3205]
synonym: "lymphangiosarcoma" EXACT [NCIT:C3205]
synonym: "lymphangiosarcoma of Stewart and Treves" RELATED [DOID:2689, NCIT:C4490]
synonym: "lymphangiosarcoma, malignant" EXACT [NCIT:C3205]
synonym: "malignant lymphangioendothelioma" EXACT [DOID:2689, NCIT:C3205]
synonym: "skin lymphangiosarcoma" RELATED EXCLUDE [DOID:2689]
synonym: "Stewart-Treves syndrome" EXACT [DOID:2689]
xref: DOID:2689 {source="MONDO:equivalentTo"}
xref: EFO:1000339 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9170/3 {source="NCIT:C3205"}
xref: MEDGEN:6154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537491 {source="DOID:2689"}
xref: MESH:D008204 {source="MONDO:equivalentTo", source="DOID:2689"}
xref: NCIT:C3205 {source="MONDO:equivalentTo", source="DOID:2689", source="EFO:1000339"}
xref: SCTID:403986008 {source="MONDO:equivalentTo", source="DOID:2689"}
xref: SCTID:62497000 {source="DOID:2689"}
xref: SCTID:63373002 {source="DOID:2689"}
xref: UMLS:C0024224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6154"}
is_a: MONDO:0005089 {source="EFO:1000339", source="MESH:D008204", source="MONDO:Redundant"} ! sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_arises_from_structure CL:0002138 ! endothelial cell of lymphatic vessel
relationship: disease_has_basis_in_dysfunction_of CL:0002138 ! endothelial cell of lymphatic vessel
relationship: disease_has_location CL:0000115 {source="EFO:0000784"} ! endothelial cell

[Term]
id: MONDO:0006283
name: lymphoepithelioma-like lung carcinoma
def: "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." [NCIT:C45519]
subset: otar {source="MONDO:OTAR"}
synonym: "lymphoepithelioma-like carcinoma of the lung" RELATED [ONCOTREE:LECLC]
xref: EFO:1000340 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:313374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45519 {source="EFO:1000340", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:LECLC {source="MONDO:equivalentTo"}
xref: UMLS:C1708792 {source="MEDGEN:313374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003050 {source="EFO:1000340", source="NCIT:C45519", source="ONCOTREE:LECLC"} ! lung large cell carcinoma
is_a: MONDO:0005232 {source="EFO:1000340", source="NCIT:C45519/inferred"} ! large cell carcinoma

[Term]
id: MONDO:0006284
name: major salivary gland carcinoma
def: "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." [NCIT:C5907]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of Major salivary gland" EXACT [NCIT:C5907]
synonym: "carcinoma of major salivary gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the major salivary gland" EXACT [NCIT:C5907]
synonym: "major salivary gland cancer" BROAD [NCIT:C5907]
synonym: "major salivary gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C5907]
xref: EFO:1000344 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5907 {source="EFO:1000344", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334549 {source="MEDGEN:235287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5907"} ! salivary gland carcinoma
is_a: MONDO:0004669 {source="MONDO:0006284/inferred", source="MONDO:Redundant", source="NCIT:C5907", source="NCIT:C5907/inferred"} ! salivary gland cancer
is_a: MONDO:0021368 {source="MONDO:0006284/inferred", source="MONDO:Entailed", source="NCIT:C5907/inferred"} ! neoplasm of major salivary gland
intersection_of: MONDO:0004993 {source="NCIT:C5907"} ! carcinoma
intersection_of: disease_has_location UBERON:0001829 {source="NCIT:C5907"} ! major salivary gland

[Term]
id: MONDO:0006285
name: major salivary gland carcinoma ex pleomorphic adenoma
def: "A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C5975]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma ex pleomorphic adenoma of Major salivary gland" EXACT [NCIT:C5975]
synonym: "carcinoma ex pleomorphic adenoma of the Major salivary gland" EXACT [NCIT:C5975]
synonym: "major salivary gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C5975]
synonym: "major salivary gland salivary gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location]
xref: EFO:1000345 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5975 {source="MONDO:equivalentTo", source="EFO:1000345", source="MONDO:exact-label-match"}
xref: UMLS:C1334550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233655"}
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5975"} ! major salivary gland carcinoma
is_a: MONDO:0006403 {source="MONDO:Redundant", source="NCIT:C5975"} ! salivary gland carcinoma ex pleomorphic adenoma
intersection_of: MONDO:0002472 ! carcinoma ex pleomorphic adenoma
intersection_of: disease_has_location UBERON:0001829 ! major salivary gland

[Term]
id: MONDO:0006286
name: major salivary gland mucoepidermoid carcinoma
def: "A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." [NCIT:C5906]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "major salivary gland mucoepidermoid cancer" EXACT [NCIT:C5906]
synonym: "major salivary gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5906]
synonym: "mucoepidermoid carcinoma of Major salivary gland" EXACT [NCIT:C5906]
synonym: "mucoepidermoid carcinoma of the Major salivary gland" EXACT [NCIT:C5906]
xref: EFO:1000346 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5906 {source="MONDO:equivalentTo", source="EFO:1000346", source="MONDO:exact-label-match"}
xref: UMLS:C1334551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233139"}
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5906"} ! major salivary gland carcinoma
is_a: MONDO:0021009 {source="MONDO:Redundant", source="NCIT:C5906"} ! salivary gland mucoepidermoid carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0001829 ! major salivary gland

[Term]
id: MONDO:0006287
name: malignancy in giant cell tumor of bone
def: "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." [NCIT:C4304]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone giant cell sarcoma" EXACT [MONDO:0003114]
synonym: "Dedifferentiated giant cell tumor" EXACT [NCIT:C4304]
synonym: "Dedifferentiated giant cell tumour" EXACT OMO:0003005 []
synonym: "giant cell bone sarcoma" EXACT [NCIT:C4304]
synonym: "giant cell sarcoma of bone" EXACT [NCIT:C4304]
synonym: "giant cell sarcoma of the bone" EXACT [DOID:4719, NCIT:C4304]
synonym: "giant cell tumor of bone, malignant" EXACT [DOID:4719]
synonym: "giant cell tumor of bone, malignant (morphologic abnormality)" EXACT [DOID:4719]
synonym: "giant cell tumour of bone, malignant" EXACT OMO:0003005 []
synonym: "giant cell tumour of bone, malignant (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "malignancy in giant cell tumor of bone" EXACT [NCIT:C4304]
synonym: "malignancy in giant cell tumor of the bone" EXACT [NCIT:C4304]
synonym: "malignancy in giant cell tumour of the bone" EXACT OMO:0003005 []
synonym: "malignant giant cell tumor of bone" EXACT [NCIT:C4304]
synonym: "malignant giant cell tumour of bone" EXACT OMO:0003005 []
synonym: "OSTEOCLASTOMA, malignant" EXACT [NCIT:C4304]
xref: DOID:4719 {source="MONDO:equivalentTo"}
xref: EFO:1000347 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9250/3 {source="NCIT:C4304"}
xref: MEDGEN:87263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200052 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4304 {source="MONDO:equivalentTo", source="EFO:1000347", source="DOID:4719"}
xref: SCTID:10069009 {source="DOID:4719"}
xref: UMLS:C0334552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87263"}
is_a: MONDO:0002402 {source="DOID:4719", source="NCIT:C4304/inferred"} ! malignant giant cell tumor
is_a: MONDO:0021054 {source="NCIT:C4304"} ! bone sarcoma

[Term]
id: MONDO:0006288
name: malignant adrenal gland pheochromocytoma
def: "A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." [NCIT:C4220]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal gland pheochromocytoma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant adrenal gland chromaffin neoplasm" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland chromaffin paraganglioma" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland chromaffin tumor" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland chromaffin tumour" EXACT OMO:0003005 []
synonym: "malignant adrenal gland Chromaffinoma" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland paraganglioma" EXACT [NCIT:C4220]
synonym: "malignant adrenal gland pheochromocytoma" EXACT [NCIT:C4220]
synonym: "malignant adrenal medullary paraganglioma" EXACT [NCIT:C4220]
synonym: "malignant adrenal medullary pheochromocytoma" EXACT [NCIT:C4220]
synonym: "malignant adrenal pheochromocytoma" EXACT [NCIT:C4220]
synonym: "malignant pheochromocytoma" EXACT [NCIT:C4220]
synonym: "pheochromoblastoma" EXACT [NCIT:C4220]
synonym: "pheochromocytoma, malignant" EXACT [NCIT:C4220]
xref: DOID:0080347 {source="MONDO:equivalentTo"}
xref: EFO:1000348 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8700/3 {source="NCIT:C4220"}
xref: MEDGEN:87238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4220 {source="MONDO:equivalentTo", source="EFO:1000348", source="MONDO:exact-label-match"}
xref: SCTID:21851000119103 {source="MONDO:equivalentTo"}
xref: UMLS:C0334419 {source="MEDGEN:87238", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003606 {source="DOID:0080347", source="MONDO:Redundant", source="NCIT:C4220"} ! adrenal medulla cancer
is_a: MONDO:0004974 {source="EFO:1000348", source="MONDO:Redundant", source="NCIT:C4220"} ! adrenal gland pheochromocytoma
intersection_of: MONDO:0004974 ! adrenal gland pheochromocytoma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0006289
name: obsolete malignant epitheloid mesothelioma
is_obsolete: true

[Term]
id: MONDO:0006290
name: malignant germ cell tumor
def: "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." [NCIT:C4925]
subset: gard_rare {source="GARD:3360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of germ cell" EXACT [MONDO:patterns/cancer]
synonym: "germ cell cancer" EXACT [MONDO:patterns/location]
synonym: "germ cell cancer, NOS" RELATED EXCLUDE [NCIT:C4925]
synonym: "germ cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant germ cell neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4925]
synonym: "malignant germ cell tumor" EXACT [NCIT:C4925]
synonym: "malignant neoplasm of germ cell" EXACT [MONDO:patterns/cancer, NCIT:C4925]
synonym: "malignant neoplasm of the germ cell" EXACT [NCIT:C4925]
synonym: "malignant tumor of germ cell" EXACT [NCIT:C4925]
synonym: "malignant tumor of the germ cell" EXACT [NCIT:C4925]
synonym: "malignant tumour of germ cell" EXACT OMO:0003005 []
synonym: "malignant tumour of the germ cell" EXACT OMO:0003005 []
xref: EFO:1000352 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3360 {source="MONDO:GARD"}
xref: MEDGEN:890580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4925 {source="EFO:1000352", source="MONDO:equivalentTo"}
xref: SCTID:145831000119103 {source="MONDO:equivalentTo"}
xref: UMLS:C4048549 {source="MEDGEN:890580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005040 {source="EFO:1000352", source="MONDO:Redundant", source="NCIT:C4925"} ! germ cell tumor
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0006291
name: malignant jugulotympanic paraganglioma
def: "A jugulotympanic paraganglioma that metastasizes to other anatomic sites." [NCIT:C4623]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of jugular body" EXACT [MONDO:patterns/cancer]
synonym: "jugular body cancer" EXACT [MONDO:patterns/location]
synonym: "malignant glomus jugulare neoplasm" EXACT [NCIT:C4623]
synonym: "malignant glomus jugulare tumor" EXACT [NCIT:C4623]
synonym: "malignant glomus jugulare tumour" EXACT OMO:0003005 []
synonym: "malignant jugular body neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant jugulotympanic paraganglioma" EXACT [NCIT:C4623]
synonym: "malignant neoplasm of glomus jugulare" EXACT [NCIT:C4623]
synonym: "malignant neoplasm of jugular body" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the glomus jugulare" EXACT [NCIT:C4623]
synonym: "malignant tumor of glomus jugulare" EXACT [NCIT:C4623]
synonym: "malignant tumor of the glomus jugulare" EXACT [NCIT:C4623]
synonym: "malignant tumour of glomus jugulare" EXACT OMO:0003005 []
synonym: "malignant tumour of the glomus jugulare" EXACT OMO:0003005 []
xref: MEDGEN:87584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4623 {source="EFO:1000353", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0347856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87584"}
is_a: MONDO:0021064 {source="NCIT:C4623"} ! jugulotympanic paraganglioma
is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C4623/inferred"} ! malignant endocrine neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0034972 ! jugular body

[Term]
id: MONDO:0006292
name: malignant mesothelioma
def: "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." [NCIT:C4456]
subset: gard_rare {source="GARD:7026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50251"}
subset: orphanet_rare {source="Orphanet:50251"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "advanced malignant mesothelioma" NARROW [DOID:1790]
synonym: "asbestos-related malignant mesothelioma" NARROW [DOID:1790]
synonym: "diffuse malignant mesothelioma" NARROW [DOID:1790, NCIT:C8420]
synonym: "malignant mesothelial neoplasm" NARROW [NCIT:C4456]
synonym: "malignant mesothelial tumor" EXACT [NCIT:C4456]
synonym: "malignant mesothelial tumour" EXACT OMO:0003005 []
synonym: "malignant mesothelioma" EXACT [MONDO:ambiguous, NCIT:C4456]
synonym: "malignant mesothelioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "malignant neoplasm of mesothelium" EXACT [NCIT:C4456]
synonym: "malignant neoplasm of the mesothelium" EXACT [NCIT:C4456]
synonym: "malignant tumor of mesothelium" EXACT [DOID:1790, NCIT:C4456]
synonym: "malignant tumor of the mesothelium" EXACT [NCIT:C4456]
synonym: "malignant tumour of mesothelium" EXACT OMO:0003005 []
synonym: "malignant tumour of the mesothelium" EXACT OMO:0003005 []
synonym: "MESOM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156240]
synonym: "mesothelioma, malignant" EXACT [MONDO:Lexical, MONDO:patterns/malignant, NCIT:C4456, OMIM:156240]
synonym: "mesothelioma, somatic" EXACT [OMIM:156240, OMIM:genemap2]
xref: DOID:1790 {source="MONDO:equivalentTo"}
xref: EFO:1000355 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7026 {source="MONDO:GARD"}
xref: HP:0100001 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C45.0 {source="Orphanet:50251/e", source="Orphanet:50251"}
xref: icd11.foundation:369414280 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:50251"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9050/3 {source="NCIT:C4456"}
xref: MedDRA:10027406 {source="Orphanet:50251/e", source="Orphanet:50251"}
xref: MEDGEN:91062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562839 {source="DOID:1790", source="MONDO:equivalentTo"}
xref: MESH:D008654 {source="Orphanet:50251/e", source="Orphanet:50251"}
xref: NCIT:C4456 {source="DOID:1790", source="EFO:1000355", source="MONDO:equivalentTo"}
xref: OMIM:156240 {source="DOID:1790", source="Orphanet:50251/e", source="MONDO:equivalentTo", source="Orphanet:50251"}
xref: Orphanet:50251 {source="OMIM:156240", source="MONDO:equivalentTo"}
xref: SCTID:109378008 {source="MONDO:equivalentTo"}
xref: SCTID:62064005 {source="DOID:1790"}
xref: UMLS:C0345967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91062"}
is_a: MONDO:0005065 {source="EFO:1000355", source="MESH:C562839", source="MONDO:Redundant", source="NCIT:C4456"} ! mesothelioma
intersection_of: MONDO:0005065 ! mesothelioma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: disease_has_feature HP:0030828 {source="MONDO:Wikidata"} ! Wheezing
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "malignant mesothelioma (disease)" xsd:string

[Term]
id: MONDO:0006293
name: obsolete malignant mixed neoplasm
is_obsolete: true
replaced_by: MONDO:0005853

[Term]
id: MONDO:0006294
name: pleural cancer
def: "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." [NCIT:C3547]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of pleura" EXACT [MONDO:patterns/cancer, NCIT:C3547]
synonym: "cancer of the pleura" EXACT [NCIT:C3547]
synonym: "malignant neoplasm of pleura" EXACT [MONDO:patterns/cancer, NCIT:C3547]
synonym: "malignant neoplasm of the pleura" EXACT [NCIT:C3547]
synonym: "malignant pleura neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant pleural neoplasm" EXACT [NCIT:C3547]
synonym: "malignant pleural tumor" EXACT [NCIT:C3547]
synonym: "malignant pleural tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of pleura" EXACT [NCIT:C3547]
synonym: "malignant tumor of the pleura" EXACT [NCIT:C3547]
synonym: "malignant tumour of pleura" EXACT OMO:0003005 []
synonym: "malignant tumour of the pleura" EXACT OMO:0003005 []
synonym: "neoplasm of pleura" BROAD [DOID:5158]
synonym: "pleura cancer" EXACT [MONDO:patterns/location]
synonym: "pleural cancer" EXACT [MONDO:0003309, NCIT:C3547]
synonym: "pleural tumor" BROAD [DOID:5158, NCIT:C3332]
synonym: "pleural tumour" BROAD OMO:0003005 []
xref: DOID:5158 {source="MONDO:equivalentTo"}
xref: EFO:1000362 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C38.4 {source="DOID:5158", source="MONDO:equivalentTo"}
xref: ICD9:163 {source="DOID:5158"}
xref: ICD9:163.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:163.9 {source="DOID:5158", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010997 {source="DOID:5158"}
xref: NCIT:C3332 {source="DOID:5158"}
xref: NCIT:C3547 {source="EFO:1000362", source="DOID:5158", source="MONDO:equivalentTo"}
xref: SCTID:126719004 {source="DOID:5158"}
xref: SCTID:187880003 {source="DOID:5158"}
xref: SCTID:363433009 {source="DOID:5158", source="MONDO:equivalentTo"}
xref: SCTID:93966009 {source="DOID:5158"}
xref: UMLS:C0153494 {source="MEDGEN:56307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000376 {source="MONDO:Redundant"} ! respiratory system cancer
is_a: MONDO:0002037 {source="NCIT:C3547/inferred"} ! pleural disorder
is_a: MONDO:0003274 {source="NCIT:C3547"} ! thoracic cancer
is_a: MONDO:0021065 {source="MONDO:Redundant", source="NCIT:C3547"} ! pleural neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000977 ! pleura
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:5158", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete connective tissue cancer

[Term]
id: MONDO:0006295
name: malignant urinary system neoplasm
def: "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." [NCIT:C9297]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of renal system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of renal system" EXACT [MONDO:patterns/cancer]
synonym: "malignant renal system neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant urinary system neoplasm" EXACT [NCIT:C9297]
synonym: "malignant urinary tract neoplasm" EXACT [NCIT:C9297]
synonym: "renal system cancer" EXACT [MONDO:patterns/location]
synonym: "urinary system cancer" EXACT [MONDO:0002827]
synonym: "urothelial tract/bladder cancer, NOS" RELATED EXCLUDE [NCIT:C9297]
synonym: "urothelial/bladder cancer, NOS" RELATED EXCLUDE [NCIT:C9297]
xref: DOID:3996 {source="MONDO:equivalentTo"}
xref: EFO:1000363 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C64-C68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:C68.9 {source="DOID:3996"}
xref: ICD9:189.9 {source="DOID:3996"}
xref: MEDGEN:738719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9297 {source="EFO:1000363", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:190132004 {source="DOID:3996"}
xref: SCTID:448233000 {source="MONDO:equivalentTo", source="DOID:3996"}
xref: UMLS:C1644719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:738719"}
is_a: MONDO:0004992 {source="DOID:3996", source="DOID:3996/inferred", source="MONDO:Redundant"} ! cancer
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C9297"} ! urinary system neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001008 ! renal system

[Term]
id: MONDO:0006296
name: obsolete mast cell sarcoma
is_obsolete: true
replaced_by: MONDO:0019024

[Term]
id: MONDO:0006297
name: maxillary sinus adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." [NCIT:C6239]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of maxillary sinus" RELATED [DOID:7198, NCIT:C6239]
synonym: "adenoid cystic carcinoma of the maxillary sinus" EXACT [DOID:7198, NCIT:C6239]
synonym: "maxillary sinus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6239]
xref: DOID:7198 {source="MONDO:equivalentTo"}
xref: EFO:1000365 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6239 {source="MONDO:equivalentTo", source="EFO:1000365", source="NCIT:C6239", source="DOID:7198"}
xref: UMLS:C1334643 {source="MONDO:equivalentTo", source="MEDGEN:233168", source="MONDO:MEDGEN"}
is_a: MONDO:0001748 {source="DOID:7198", source="MONDO:Redundant", source="NCIT:C6239", source="NCIT:C6239/inferred"} ! maxillary sinus carcinoma
is_a: MONDO:0006352 {source="MONDO:Redundant", source="NCIT:C6239"} ! paranasal sinus adenoid cystic carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0006298
name: mediastinal malignant germ cell tumor
def: "An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." [NCIT:C6446]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant germ cell neoplasm of mediastinum" RELATED [NCIT:C6446]
synonym: "malignant germ cell neoplasm of the mediastinum" RELATED [NCIT:C6446]
synonym: "malignant germ cell tumor of mediastinum" RELATED [NCIT:C6446]
synonym: "malignant germ cell tumor of the mediastinum" RELATED [NCIT:C6446]
synonym: "malignant germ cell tumour of mediastinum" RELATED OMO:0003005 []
synonym: "malignant germ cell tumour of the mediastinum" RELATED OMO:0003005 []
synonym: "malignant mediastinal germ cell neoplasm" RELATED [NCIT:C6446]
synonym: "malignant mediastinal germ cell tumor" EXACT []
synonym: "malignant mediastinal germ cell tumour" EXACT OMO:0003005 []
synonym: "mediastinal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "mediastinal malignant germ cell tumor" EXACT [NCIT:C6446]
synonym: "thymic malignant germ cell tumor" EXACT [NCIT:C6446]
synonym: "thymic malignant germ cell tumour" EXACT OMO:0003005 []
xref: EFO:1000366 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6446 {source="EFO:1000366", source="MONDO:equivalentTo", source="NCIT:C6446"}
xref: SCTID:713293002 {source="MONDO:equivalentTo"}
xref: UMLS:C1334597 {source="MEDGEN:277334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005843 {source="MONDO:Redundant", source="NCIT:C6446"} ! mediastinal cancer
is_a: MONDO:0021067 {source="MONDO:Redundant", source="NCIT:C6446"} ! mediastinal germ cell tumor
intersection_of: MONDO:0021067 ! mediastinal germ cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0006299
name: obsolete mediastinal neuroblastoma
is_obsolete: true
replaced_by: MONDO:0001095

[Term]
id: MONDO:0006300
name: medullomyoblastoma with myogenic differentiation
def: "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." [NCIT:C3706]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "medullomyoblastoma" EXACT [DOID:3861]
synonym: "medullomyoblastoma with myogenic differentiation" EXACT [NCIT:C3706]
synonym: "MMB" RELATED ABBREVIATION [ONCOTREE:MMB]
xref: DOID:3861 {source="MONDO:equivalentTo"}
xref: EFO:1000368 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9472/3 {source="NCIT:C3706"}
xref: MEDGEN:104731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008527 {source="DOID:3861"}
xref: NCIT:C3706 {source="DOID:3861", source="MONDO:equivalentTo", source="EFO:1000368"}
xref: ONCOTREE:MMB {source="MONDO:equivalentTo"}
xref: SCTID:24604009 {source="DOID:3861"}
xref: UMLS:C0205833 {source="MEDGEN:104731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007959 {source="DOID:3861", source="EFO:1000368", source="NCIT:C3706"} ! medulloblastoma

[Term]
id: MONDO:0006301
name: metanephric adenoma
def: "A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." [NCIT:C27253]
subset: otar {source="MONDO:OTAR"}
synonym: "metanephric adenoma" EXACT [NCIT:C27253]
synonym: "metanephric adenoma (morphologic abnormality)" EXACT [DOID:6404]
xref: DOID:6404 {source="MONDO:equivalentTo"}
xref: EFO:1000373 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8191/0 {source="NCIT:C27253"}
xref: ICDO:8325/0 {source="NCIT:C27253"}
xref: MEDGEN:266093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27253 {source="EFO:1000373", source="DOID:6404", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:128670007 {source="DOID:6404"}
xref: UMLS:C1266045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266093"}
is_a: MONDO:0002395 {source="DOID:6404", source="NCIT:C27253"} ! renal adenoma
is_a: MONDO:0002513 {source="MONDO:Redundant", source="NCIT:C27253"} ! kidney benign neoplasm
is_a: MONDO:0004972 {source="EFO:1000373", source="MONDO:Redundant", source="NCIT:C27253/inferred"} ! adenoma

[Term]
id: MONDO:0006302
name: micropapillary serous carcinoma
def: "An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000377 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: NCIT:C6882 {source="EFO:1000377", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="EFO:1000377", source="NCIT:C6882"} ! adenocarcinoma

[Term]
id: MONDO:0006303
name: middle ear squamous cell carcinoma
def: "A rare squamous cell carcinoma that arises from the middle ear." [NCIT:C6086]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of middle Ear" EXACT [NCIT:C6086]
synonym: "epidermoid carcinoma of the middle Ear" EXACT [NCIT:C6086]
synonym: "epidermoid carcinoma of the middle ear" EXACT [DOID:5526, NCIT:C6086]
synonym: "middle Ear epidermoid carcinoma" EXACT [NCIT:C6086]
synonym: "middle ear squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6086]
synonym: "squamous cell carcinoma of middle Ear" EXACT [NCIT:C6086]
synonym: "squamous cell carcinoma of middle ear" RELATED [DOID:5526]
synonym: "squamous cell carcinoma of the middle Ear" EXACT [NCIT:C6086]
xref: DOID:5526 {source="MONDO:equivalentTo"}
xref: EFO:1000378 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6086 {source="DOID:5526", source="MONDO:equivalentTo", source="EFO:1000378", source="MONDO:exact-label-match"}
xref: UMLS:C1334762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233191"}
is_a: MONDO:0003190 {source="DOID:5526", source="MONDO:Redundant", source="NCIT:C6086"} ! middle ear carcinoma
is_a: MONDO:0010150 {source="EFO:1000378", source="MONDO:Redundant", source="NCIT:C6086/inferred"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0006304
name: minor salivary gland adenocarcinoma
def: "An adenocarcinoma that arises from the minor salivary glands." [NCIT:C5948]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of minor salivary gland" EXACT [NCIT:C5948]
synonym: "adenocarcinoma of the minor salivary gland" EXACT [NCIT:C5948]
xref: EFO:1000379 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5948 {source="MONDO:equivalentTo", source="EFO:1000379", source="MONDO:exact-label-match"}
xref: UMLS:C1334768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235328"}
is_a: MONDO:0004970 {source="EFO:1000379", source="MONDO:Redundant", source="NCIT:C5948/inferred"} ! adenocarcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland

[Term]
id: MONDO:0006305
name: obsolete mixed cell uveal melanoma
is_obsolete: true
replaced_by: MONDO:0003910

[Term]
id: MONDO:0006306
name: mixed lobular and ductal breast carcinoma
def: "A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." [NCIT:C5160]
subset: otar {source="MONDO:OTAR"}
synonym: "breast mixed ductal and lobular carcinoma" RELATED [ONCOTREE:MDLC]
synonym: "ductal and lobular carcinoma" EXACT [NCIT:C5160]
synonym: "mixed ductal and lobular breast carcinoma" EXACT [NCIT:C5160]
synonym: "mixed ductal and lobular carcinoma of breast" EXACT [NCIT:C5160]
synonym: "mixed ductal and lobular carcinoma of the breast" EXACT [NCIT:C5160]
synonym: "mixed lobular and ductal breast carcinoma" EXACT [NCIT:C5160]
synonym: "mixed lobular and ductal carcinoma" EXACT [NCIT:C5160]
synonym: "mixed lobular and ductal carcinoma of breast" EXACT [NCIT:C5160]
synonym: "mixed lobular and ductal carcinoma of the breast" EXACT [NCIT:C5160]
xref: EFO:1000382 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:174.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1779609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5160 {source="EFO:1000382", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:MDLC {source="MONDO:equivalentTo"}
xref: SCTID:444604002 {source="MONDO:equivalentTo"}
xref: UMLS:C5441546 {source="MEDGEN:1779609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004988 {source="EFO:1000382", source="NCIT:C5160"} ! breast adenocarcinoma
is_a: MONDO:0005853 {source="NCIT:C5160"} ! malignant mixed neoplasm

[Term]
id: MONDO:0006307
name: mixed somatotroph-lactotroph pituitary gland adenoma
def: "An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." [NCIT:C45927]
subset: otar {source="MONDO:OTAR"}
synonym: "mixed GH-PRL cell adenoma" EXACT [NCIT:C45927]
synonym: "mixed Somatolactotrope adenoma" EXACT [NCIT:C45927]
synonym: "Mixed somatotroph and lactotroph adenoma" EXACT [NCIT:C45927]
synonym: "mixed somatotroph-lactotroph adenoma" EXACT [NCIT:C45927]
synonym: "mixed somatotroph-lactotroph pituitary gland adenoma" EXACT [NCIT:C45927]
xref: EFO:1000383 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:353936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45927 {source="EFO:1000383", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1709052 {source="MEDGEN:353936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="EFO:1000383", source="NCIT:C45927/inferred"} ! adenoma

[Term]
id: MONDO:0006309
name: mucinous gastric adenocarcinoma
def: "A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." [NCIT:C5248]
subset: otar {source="MONDO:OTAR"}
synonym: "MSTAD" RELATED ABBREVIATION [ONCOTREE:MSTAD]
synonym: "mucinous adenocarcinoma of stomach" EXACT [NCIT:C5248]
synonym: "mucinous adenocarcinoma of the stomach" EXACT [DOID:3716, NCIT:C5248]
synonym: "mucinous gastric adenocarcinoma" EXACT [NCIT:C5248]
synonym: "mucinous stomach adenocarcinoma" EXACT [MONDO:0002753, NCIT:C5248]
synonym: "stomach mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3716 {source="MONDO:equivalentTo"}
xref: EFO:1000386 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5248 {source="EFO:1000386", source="MONDO:equivalentTo", source="DOID:3716"}
xref: ONCOTREE:MSTAD {source="MONDO:equivalentTo"}
xref: UMLS:C1334809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235338"}
is_a: MONDO:0004957 {source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248"} ! mucinous adenocarcinoma
is_a: MONDO:0005036 {source="DOID:3716/inferred", source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248/inferred", source="ONCOTREE:MSTAD"} ! gastric adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: excluded_subClassOf MONDO:0005017 {source="DOID:3716", source="https://orcid.org/0000-0001-5208-3432"} ! diffuse gastric adenocarcinoma

[Term]
id: MONDO:0006310
name: obsolete mucinuos carcinoma
is_obsolete: true
replaced_by: MONDO:0004957

[Term]
id: MONDO:0006311
name: myelodysplastic/myeloproliferative neoplasm
def: "A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." [NCIT:C27262]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDS-MPD" BROAD [NCIT:C27262]
synonym: "MDS/MPD" BROAD [NCIT:C27262]
synonym: "MDS/MPN" EXACT [NCIT:C27262, ONCOTREE:MDS%2FMPN]
synonym: "MPD-MDS" EXACT [NCIT:C27262]
synonym: "MPD/MDS" EXACT [NCIT:C27262]
synonym: "myelodysplastic myeloproliferative cancer" EXACT [DOID:4972]
synonym: "myelodysplastic myeloproliferative disease" BROAD [DOID:4972]
synonym: "myelodysplastic/myeloproliferative disease" BROAD [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative diseases" BROAD [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative disorder" BROAD [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative disorders" BROAD [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative neoplasm" EXACT [NCIT:C27262]
synonym: "myelodysplastic/myeloproliferative neoplasms" EXACT [ONCOTREE:MDS%2FMPN]
synonym: "myeloproliferative/myelodysplastic disorders" BROAD [NCIT:C27262]
synonym: "myeloproliferative/myelodysplastic syndromes" BROAD [DOID:4972, NCIT:C27262]
xref: DOID:4972 {source="MONDO:equivalentTo"}
xref: EFO:1000388 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9975/3 {source="NCIT:C27262"}
xref: MEDGEN:226981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054437 {source="DOID:4972", source="MONDO:relatedTo"}
xref: NCIT:C27262 {source="DOID:4972", source="EFO:1000388", source="MONDO:equivalentTo"}
xref: ONCOTREE:MDS%2FMPN {source="MONDO:equivalentTo"}
xref: SCTID:397336008 {source="DOID:4972"}
xref: SCTID:445738007 {source="DOID:4972", source="MONDO:equivalentTo"}
xref: UMLS:C1301355 {source="MEDGEN:226981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005170 {source="DOID:4972", source="EFO:1000388", source="MONDO:Redundant", source="NCIT:C27262", source="ONCOTREE:MDS%2FMPN/inferred"} ! myeloid neoplasm
is_a: MONDO:0021138 {source="MONDO:Redundant", source="NCIT:C27262"} ! bone marrow cancer

[Term]
id: MONDO:0006312
name: myofibroma
def: "A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." [NCIT:C7052]
subset: otar {source="MONDO:OTAR"}
synonym: "infantile hemangiopericytoma" RELATED [NCIT:C7052]
synonym: "lipoleiomyoma" EXACT [DOID:4386]
synonym: "myofibroma" EXACT [DOID:4386, NCIT:C7052]
synonym: "myofibroma (morphologic abnormality)" EXACT [DOID:4386]
xref: DOID:4386 {source="MONDO:equivalentTo"}
xref: EFO:1000389 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8824/0 {source="NCIT:C7052"}
xref: MEDGEN:234574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D047708 {source="DOID:4386", source="MONDO:equivalentTo"}
xref: NCIT:C7052 {source="MONDO:equivalentTo", source="EFO:1000389", source="MONDO:exact-label-match"}
xref: ONCOTREE:MF {source="MONDO:equivalentTo"}
xref: SCTID:128917003 {source="DOID:4386"}
xref: SCTID:44598004 {source="DOID:4386"}
xref: UMLS:C1368237 {source="MEDGEN:234574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001572 {source="DOID:4386", source="MONDO:Entailed"} ! leiomyoma
is_a: MONDO:0003342 {source="NCIT:C7052"} ! benign perivascular tumor
relationship: excluded_subClassOf MONDO:0000385 {source="DOID:4386", source="https://orcid.org/0000-0001-5208-3432"} ! benign digestive system neoplasm
relationship: excluded_subClassOf MONDO:0000654 {source="DOID:4386", source="https://orcid.org/0000-0001-5208-3432"} ! benign connective and soft tissue neoplasm

[Term]
id: MONDO:0006313
name: nabothian cyst
def: "A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium." [NCIT:P378]
comment: Editor note: check this
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000390 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34835 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000390"}
xref: SCTID:24565001 {source="MONDO:equivalentTo"}
xref: UMLS:C0027269 {source="MEDGEN:6510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Nabothian_cyst {source="EFO:1000390"}
is_a: MONDO:0005070 {source="EFO:1000390"} ! neoplasm
relationship: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0006314
name: nasal cavity polyp
def: "A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection." [NCIT:C3256]
subset: otar {source="MONDO:OTAR"}
synonym: "nasal cavity polyp" EXACT [MONDO:patterns/location, NCIT:C3256]
synonym: "nasal polyp" EXACT [NCIT:C3256]
synonym: "polyp of nasal cavity" EXACT [NCIT:C3256]
synonym: "polyp of the nasal cavity" EXACT [NCIT:C3256]
xref: EFO:1000391 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:471.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:471.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009298 {source="MONDO:equivalentTo"}
xref: NCIT:C3256 {source="MONDO:equivalentTo", source="EFO:1000391"}
xref: SCTID:52756005 {source="MONDO:equivalentTo"}
xref: UMLS:C0027430 {source="MONDO:equivalentTo", source="MEDGEN:6524", source="MONDO:MEDGEN"}
is_a: MONDO:0002232 {source="MONDO:Redundant", source="NCIT:C3256"} ! nasal cavity disorder
is_a: MONDO:0005079 {source="EFO:1000391", source="MESH:D009298", source="MONDO:Redundant", source="NCIT:C3256"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0006315
name: obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm
comment: Editor note: this represents a cell type in NCIT
xref: NCIT:C37005 {source="EFO:1000392", source="MONDO:obsoleteEquivalent", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2099" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0006316
name: neuroblastic tumor
def: "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." [NCIT:C6963]
subset: otar {source="MONDO:OTAR"}
synonym: "neuroblastic tumor" EXACT [NCIT:C6963]
xref: EFO:1000393 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6963 {source="EFO:1000393", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233228"}
is_a: MONDO:0005462 {source="EFO:1000393", source="NCIT:C6963"} ! primitive neuroectodermal tumor

[Term]
id: MONDO:0006317
name: neurothekeoma
def: "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." [NCIT:C7018]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nerve sheath Myxoma" EXACT [NCIT:C7018]
synonym: "neurothekeoma" EXACT [NCIT:C7018]
xref: EFO:1000394 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9562/0 {source="NCIT:C7018"}
xref: MEDGEN:64641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018321 {source="MONDO:equivalentTo"}
xref: NCIT:C7018 {source="EFO:1000394", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C0206730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64641"}
is_a: MONDO:0001406 {source="MESH:D018321/inferred", source="MONDO:Redundant", source="NCIT:C7018"} ! peripheral nervous system neoplasm
is_a: MONDO:0002547 {source="MESH:D018321", source="NCIT:C7018"} ! nerve sheath neoplasm
is_a: MONDO:0005070 {source="EFO:1000394", source="MESH:D018321/inferred", source="MONDO:Redundant", source="NCIT:C7018/inferred"} ! neoplasm

[Term]
id: MONDO:0006318
name: obsolete nevus of Ito
is_obsolete: true
replaced_by: MONDO:0016985

[Term]
id: MONDO:0006319
name: obsolete nevus of Ota
is_obsolete: true
replaced_by: MONDO:0016984

[Term]
id: MONDO:0006320
name: non-cutaneous melanoma
def: "Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" [NCIT:C8711]
subset: otar {source="MONDO:OTAR"}
synonym: "extracutaneous melanoma" EXACT [NCIT:C8711]
synonym: "non-cutaneous melanoma" EXACT [NCIT:C8711]
xref: EFO:1000397 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8711 {source="EFO:1000397", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1334974 {source="MEDGEN:233761", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="EFO:1000397", source="NCIT:C8711"} ! melanoma

[Term]
id: MONDO:0006321
name: non-functioning adrenal cortex adenoma
def: "An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." [NCIT:C48458]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal cortex non-functioning endocrine neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "adrenal cortical incidentaloma" EXACT [NCIT:C48458]
synonym: "non-functioning adrenal cortex adenoma" EXACT [NCIT:C48458]
synonym: "non-functioning adrenal cortical adenoma" EXACT [NCIT:C48458]
synonym: "non-functioning endocrine neoplasm of adrenal cortex" EXACT [MONDO:design_pattern]
synonym: "nonfunctional adrenal cortex adenoma" EXACT [NCIT:C48458]
xref: EFO:1000399 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:313501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C48458 {source="EFO:1000399", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1709240 {source="MONDO:equivalentTo", source="MEDGEN:313501", source="MONDO:MEDGEN"}
is_a: MONDO:0003924 {source="MONDO:Redundant", source="NCIT:C48458"} ! adrenal cortex adenoma
is_a: MONDO:0004972 {source="EFO:1000399", source="MONDO:Redundant", source="NCIT:C48458/inferred"} ! adenoma
is_a: MONDO:0021119 {source="MONDO:Redundant", source="NCIT:C48458"} ! non-functioning endocrine neoplasm
intersection_of: MONDO:0021119 ! non-functioning endocrine neoplasm
intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex

[Term]
id: MONDO:0006322
name: non-neoplastic bile duct disorder
def: "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." [NCIT:C35774]
subset: otar {source="MONDO:OTAR"}
synonym: "non-neoplastic bile duct disorder" EXACT [NCIT:C35774]
xref: EFO:1000400 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:476793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35774 {source="MONDO:equivalentTo", source="EFO:1000400", source="MONDO:exact-label-match"}
xref: UMLS:C3275160 {source="MEDGEN:476793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002887 {source="NCIT:C35774"} ! bile duct disorder
is_a: MONDO:0005151 {source="EFO:1000400"} ! endocrine system disorder

[Term]
id: MONDO:0006323
name: non-seminomatous lesion
def: "A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma." [EFO:1000401]
xref: MEDGEN:233785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36127 {source="MONDO:otherHierarchy", source="EFO:1000401"}
xref: UMLS:C1335059 {source="MEDGEN:233785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000401"} ! neoplasm

[Term]
id: MONDO:0006324
name: normal breast-like subtype of breast carcinoma
def: "A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." [NCIT:C53557]
subset: otar {source="MONDO:OTAR"}
synonym: "normal breast-like subtype of breast cancer" EXACT [NCIT:C53557]
synonym: "normal breast-like subtype of breast carcinoma" EXACT [NCIT:C53557]
xref: EFO:1000402 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:771111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53557 {source="MONDO:equivalentTo", source="EFO:1000402", source="MONDO:exact-label-match"}
xref: UMLS:C3642471 {source="MEDGEN:771111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004989 {source="EFO:1000402", source="MONDO:Redundant", source="NCIT:C53557/inferred"} ! breast carcinoma
is_a: MONDO:0006116 {source="NCIT:C53557"} ! breast carcinoma by gene expression profile

[Term]
id: MONDO:0006325
name: ocular melanoma
def: "A melanoma that arises from the structures of the eye or ocular adnexa." [NCIT:C8562]
subset: otar {source="MONDO:OTAR"}
synonym: "eye melanoma" EXACT [DOID:1752, NCIT:C8562]
synonym: "eye melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "eyeball of camera-type eye melanoma" EXACT []
synonym: "eyeball of camera-type eye melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "intraocular melanoma" RELATED EXCLUDE [DOID:1752]
synonym: "melanoma (disease) of eyeball of camera-type eye" EXACT []
synonym: "melanoma of eye" EXACT [DOID:1752, NCIT:C8562]
synonym: "melanoma of the eye" EXACT [NCIT:C8562]
synonym: "ocular melanoma" EXACT [NCIT:C8562]
synonym: "OM" RELATED ABBREVIATION [ONCOTREE:OM]
xref: DOID:1752 {source="MONDO:equivalentTo"}
xref: EFO:1000403 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:107846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8562 {source="MONDO:equivalentTo", source="EFO:1000403", source="MONDO:exact-label-match"}
xref: ONCOTREE:OM {source="MONDO:equivalentTo"}
xref: UMLS:C0558356 {source="MEDGEN:107846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002236 {source="DOID:1752", source="NCIT:C8562"} ! ocular cancer
is_a: MONDO:0005105 {source="DOID:1752", source="EFO:1000403", source="MONDO:Redundant", source="NCIT:C8562", source="NCIT:C8562/inferred"} ! melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye
relationship: excluded_subClassOf MONDO:0006320 {source="NCIT:C8562", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/22", source="https://orcid.org/0000-0001-5208-3432"} ! non-cutaneous melanoma

[Term]
id: MONDO:0006326
name: ocular melanoma with extraocular extension
def: "A melanoma arising from and extending beyond the structures of the eye." [NCIT:C7913]
synonym: "extraocular extension melanoma" EXACT [NCIT:C7913]
synonym: "extraocular extension of melanoma" EXACT [NCIT:C7913]
synonym: "ocular melanoma with extraocular extension" EXACT [NCIT:C7913]
xref: MEDGEN:75884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7913 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000404"}
xref: UMLS:C0278869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75884"}
is_a: MONDO:0005105 {source="EFO:1000404", source="MONDO:Redundant", source="NCIT:C7913/inferred"} ! melanoma
is_a: MONDO:0006325 {source="NCIT:C7913"} ! ocular melanoma

[Term]
id: MONDO:0006327
name: ocular sebaceous carcinoma
def: "Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases." [EFO:1000405]
subset: otar {source="MONDO:OTAR"}
synonym: "eye sebaceous carcinoma" EXACT [NCIT:C43340]
synonym: "ocular sebaceous carcinoma" EXACT [NCIT:C43340]
xref: EFO:1000405 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:317974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43340 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000405"}
xref: UMLS:C1709308 {source="MEDGEN:317974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002466 {source="NCIT:C43340"} ! eye carcinoma
is_a: MONDO:0004970 {source="EFO:1000405", source="MONDO:0006327/inferred", source="MONDO:Redundant", source="NCIT:C43340/inferred"} ! adenocarcinoma
is_a: MONDO:0006962 {source="NCIT:C43340"} ! sebaceous adenocarcinoma

[Term]
id: MONDO:0006328
name: odontogenic cyst
def: "A cyst in the jaw that arises from tissues of tooth development." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000406 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:526.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009807 {source="MONDO:equivalentTo"}
xref: NCIT:C54220 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000406"}
xref: SCTID:235110008 {source="MONDO:equivalentTo"}
xref: UMLS:C0028879 {source="MEDGEN:14461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Odontogenic_cyst {source="EFO:1000406"}
is_a: MONDO:0005070 {source="EFO:1000406", source="MESH:D009807/inferred"} ! neoplasm

[Term]
id: MONDO:0006329
name: olfactory neuroblastoma
def: "An olfactory neuroblastoma arising in the paranasal sinus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Asthesioneuroblastoma" EXACT [DOID:369]
synonym: "Asthesioneuroblastoma (morphologic abnormality)" EXACT [DOID:369]
synonym: "esthesioneuroblastoma" RELATED [NCIT:C3789]
synonym: "esthesioneuroblastoma (morphologic abnormality)" RELATED [DOID:369]
synonym: "Esthesioneuroepithelioma" RELATED [NCIT:C3789]
synonym: "Esthesioneuroepithelioma (morphologic abnormality)" RELATED [DOID:369]
synonym: "Esthesioneuroepithelioma [dup] (morphologic abnormality)" RELATED [DOID:369]
synonym: "olfactory esthesioneuroblastoma" EXACT [DOID:369, NCIT:C3789]
synonym: "olfactory neuroblastoma" EXACT [NCIT:C3789]
synonym: "olfactory neuroepithelioma" EXACT [NCIT:C3789]
synonym: "paranasal sinus olfactory neuroblastoma" EXACT [DOID:369, NCIT:C6016]
xref: DOID:369 {source="MONDO:equivalentTo", source="EFO:1000407"}
xref: EFO:1000407 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9522/3 {source="NCIT:C3789"}
xref: ICDO:9523/3 {source="NCIT:C3789"}
xref: MESH:D018304 {source="DOID:369", source="EFO:1000407"}
xref: NCIT:C3789 {source="DOID:369", source="MONDO:equivalentTo", source="EFO:1000407"}
xref: NCIT:C6016 {source="DOID:369"}
xref: ONCOTREE:ONBL {source="MONDO:equivalentTo"}
xref: SCTID:189937004 {source="DOID:369"}
xref: SCTID:189938009 {source="DOID:369"}
xref: SCTID:422886007 {source="DOID:369", source="MONDO:relatedTo"}
xref: SCTID:68614005 {source="DOID:369"}
xref: SCTID:76060004 {source="DOID:369"}
is_a: MONDO:0002433 {source="DOID:369/inferred", source="MONDO:Redundant", source="NCIT:C3789/inferred"} ! malignant cranial nerve neoplasm
is_a: MONDO:0002722 {source="DOID:369", source="NCIT:C3789/inferred"} ! olfactory nerve neoplasm
is_a: MONDO:0002749 {source="NCIT:C3789"} ! extracranial neuroblastoma
is_a: MONDO:0005072 {source="EFO:1000407", source="MONDO:Redundant", source="NCIT:C3789/inferred"} ! neuroblastoma

[Term]
id: MONDO:0006330
name: ossifying fibromyxoid tumor
def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "OFMT" EXACT ABBREVIATION [NCIT:C6582, ONCOTREE:OFMT]
synonym: "ossifying fibromyxoid neoplasm" EXACT [NCIT:C6582]
synonym: "ossifying fibromyxoid tumor (morphologic abnormality)" EXACT [DOID:2685]
synonym: "ossifying fibromyxoid tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "ossifying fibromyxoma" EXACT [DOID:2685, NCIT:C6582]
xref: DOID:2685 {source="MONDO:equivalentTo"}
xref: EFO:1000408 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8842/0 {source="NCIT:C6582"}
xref: MEDGEN:226846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6582 {source="EFO:1000408", source="DOID:2685", source="MONDO:equivalentTo"}
xref: ONCOTREE:OFMT {source="MONDO:equivalentTo"}
xref: SCTID:128745002 {source="DOID:2685"}
xref: SCTID:404076001 {source="DOID:2685", source="MONDO:equivalentTo"}
xref: UMLS:C1266128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226846"}
is_a: MONDO:0037745 {source="NCIT:C6582"} ! fibromyxoid tumor
relationship: excluded_subClassOf MONDO:0002616 {source="DOID:2685", source="https://orcid.org/0000-0001-5208-3432"} ! mesenchymal cell neoplasm

[Term]
id: MONDO:0006331
name: obsolete ovarian carcinosarcoma
is_obsolete: true
replaced_by: MONDO:0003792

[Term]
id: MONDO:0006332
name: obsolete ovarian choriocarcinoma
is_obsolete: true
replaced_by: MONDO:0003507

[Term]
id: MONDO:0006333
name: obsolete ovarian dysgerminoma
is_obsolete: true
replaced_by: MONDO:0003481

[Term]
id: MONDO:0006334
name: obsolete ovarian embryonal carcinoma
is_obsolete: true
replaced_by: MONDO:0003581

[Term]
id: MONDO:0006335
name: ovarian endometrioid adenocarcinoma
def: "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." [NCIT:C7979]
subset: gard_rare {source="GARD:21893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454723"}
subset: orphanet_rare {source="Orphanet:454723"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endometrioid adenocarcinoma of ovary" EXACT [NCIT:C7979]
synonym: "endometrioid adenocarcinoma of the ovary" EXACT [NCIT:C7979]
synonym: "endometrioid cancer of ovary" EXACT [NCIT:C7979]
synonym: "endometrioid cancer of the ovary" EXACT [NCIT:C7979]
synonym: "endometrioid carcinoma of ovary" EXACT [DOID:5828, NCIT:C7979]
synonym: "endometrioid carcinoma of the ovary" EXACT [NCIT:C7979]
synonym: "endometrioid carcinoma ovary" EXACT [DOID:5828]
synonym: "endometrioid ovarian cancer" RELATED [ONCOTREE:EOV]
synonym: "endometrioid ovary carcinoma" EXACT [MONDO:0003662]
synonym: "endometrium adenocarcinoma of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian endometrioid adenocarcinoma" EXACT [NCIT:C7979]
synonym: "ovarian endometrioid adenocarcinoma NOS" RELATED EXCLUDE [NCIT:C7979]
synonym: "ovarian endometrioid adenocarcinoma not otherwise specified" RELATED EXCLUDE [NCIT:C7979]
synonym: "ovarian endometrioid cancer" EXACT [NCIT:C7979]
synonym: "ovarian endometrioid carcinoma" EXACT [DOID:5828, NCIT:C7979]
synonym: "ovary endometrium adenocarcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5828 {source="MONDO:equivalentTo"}
xref: EFO:1000416 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21893 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:454723", source="Orphanet:454723/ntbt"}
xref: MEDGEN:91087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7979 {source="MONDO:equivalentTo", source="EFO:1000416", source="DOID:5828"}
xref: ONCOTREE:EOV {source="MONDO:equivalentTo"}
xref: Orphanet:454723 {source="MONDO:equivalentTo"}
xref: SCTID:254852002 {source="MONDO:equivalentTo", source="DOID:5828"}
xref: UMLS:C0346163 {source="MEDGEN:91087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002752 {source="DOID:5828", source="EFO:1000416", source="MONDO:Redundant", source="NCIT:C7979"} ! ovarian adenocarcinoma
is_a: MONDO:0003812 {source="NCIT:C7979"} ! ovarian endometrial cancer
is_a: MONDO:0005026 {source="NCIT:C7979"} ! endometrioid adenocarcinoma
is_a: MONDO:0005461 {source="EFO:1000416", source="MONDO:Redundant"} ! endometrium adenocarcinoma
is_a: MONDO:0018364 {source="DOID:5828/inferred", source="MONDO:0006335/inferred", source="MONDO:Redundant", source="NCIT:C7979/inferred", source="Orphanet:454723"} ! malignant epithelial tumor of ovary
intersection_of: MONDO:0005461 ! endometrium adenocarcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006336
name: ovarian endometrioid adenocarcinoma with squamous differentiation
def: "An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." [NCIT:C40061]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovarian adenoacanthoma" EXACT [NCIT:C40061]
synonym: "ovarian adenosquamous carcinoma" EXACT [NCIT:C40061]
synonym: "ovarian endometrioid adenocarcinoma with squamous differentiation" EXACT [NCIT:C40061]
xref: EFO:1000417 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:389178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40061 {source="MONDO:equivalentTo", source="EFO:1000417"}
xref: UMLS:C2212017 {source="MEDGEN:389178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006335 {source="NCIT:C40061"} ! ovarian endometrioid adenocarcinoma

[Term]
id: MONDO:0006337
name: ovarian endometriosis
def: "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." [NCIT:C27628]
subset: otar {source="MONDO:OTAR"}
synonym: "endometriosis (disease) of ovary" EXACT []
synonym: "endometriosis of ovary" EXACT [MONDO:0001289]
synonym: "ovarian endometriosis" EXACT [DOID:11432]
synonym: "ovary endometriosis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:11432 {source="MONDO:equivalentTo"}
xref: EFO:1000418 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N80.1 {source="MONDO:equivalentTo", source="DOID:11432"}
xref: ICD9:617.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11432"}
xref: MEDGEN:102350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27628 {source="MONDO:equivalentTo", source="EFO:1000418", source="DOID:11432"}
xref: SCTID:198250000 {source="DOID:11432"}
xref: SCTID:266589005 {source="MONDO:equivalentTo", source="DOID:11432"}
xref: SCTID:31007005 {source="DOID:11432"}
xref: UMLS:C0156344 {source="MEDGEN:102350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005133 {source="DOID:11432", source="EFO:1000418", source="ICD10CM:N80.1", source="MONDO:Redundant", source="NCIT:C27628"} ! endometriosis
is_a: MONDO:0005558 {source="DOID:11432", source="MONDO:Redundant", source="NCIT:C27628/inferred"} ! ovarian disorder
intersection_of: MONDO:0005133 ! endometriosis
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006338
name: obsolete ovarian germ cell tumor
is_obsolete: true
replaced_by: MONDO:0011366

[Term]
id: MONDO:0006339
name: ovarian microcystic stromal tumor
def: "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." [NCIT:C121953]
subset: gard_rare {source="GARD:22304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:569248"}
subset: orphanet_rare {source="Orphanet:569248"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCST" EXACT ABBREVIATION [Orphanet:569248]
synonym: "microcystic stromal tumor" EXACT [Orphanet:569248]
synonym: "microcystic stromal tumour" EXACT OMO:0003005 []
xref: EFO:1000424 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22304 {source="MONDO:GARD"}
xref: MEDGEN:889995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121953 {source="MONDO:equivalentTo", source="EFO:1000424", source="MONDO:exact-label-match"}
xref: Orphanet:569248 {source="MONDO:equivalentTo"}
xref: UMLS:C4054287 {source="MEDGEN:889995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C121953/inferred"} ! ovarian neoplasm
is_a: MONDO:0024387 {source="NCIT:C121953"} ! benign ovarian sex cord-stromal tumor
relationship: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006340
name: ovarian serous adenofibroma
def: "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." [NCIT:C40031]
subset: otar {source="MONDO:OTAR"}
synonym: "ovarian serous adenofibroma" EXACT [NCIT:C40031]
synonym: "ovary serous adenofibroma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "serous adenofibroma of ovary" EXACT [MONDO:design_pattern]
xref: DOID:5474 {source="MONDO:equivalentTo"}
xref: EFO:1000428 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:309514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40031 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5474", source="EFO:1000428"}
xref: UMLS:C1518729 {source="MEDGEN:309514", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000646 {source="DOID:5474", source="MONDO:Redundant", source="NCIT:C40031/inferred"} ! ovarian benign neoplasm
is_a: MONDO:0005167 {source="EFO:1000428", source="MONDO:indirect"} ! fibroma
intersection_of: MONDO:0024886 ! serous adenofibroma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006341
name: obsolete ovarian small cell carcinoma
is_obsolete: true
replaced_by: MONDO:0003795

[Term]
id: MONDO:0006342
name: obsolete ovarian squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0003494

[Term]
id: MONDO:0006343
name: ovarian transitional cell carcinoma
def: "A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present." [NCIT:C5240]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant ovarian transitional cell neoplasm" EXACT [DOID:4000]
synonym: "ovarian transitional cell cancer" EXACT [DOID:4000, NCIT:C5240]
synonym: "ovarian transitional cell carcinoma" EXACT [NCIT:C5240]
synonym: "ovarian transitional cell neoplasm" RELATED [DOID:4000]
synonym: "ovary transitional cell carcinoma" EXACT [MONDO:0002830, MONDO:patterns/location]
synonym: "transitional cell carcinoma of ovary" EXACT [DOID:4000, NCIT:C5240]
synonym: "transitional cell carcinoma of the ovary" EXACT [NCIT:C5240]
xref: DOID:4000 {source="MONDO:equivalentTo"}
xref: EFO:1000435 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40089 {source="DOID:4000"}
xref: NCIT:C5240 {source="MONDO:equivalentTo", source="EFO:1000435", source="DOID:4000"}
xref: NCIT:C7280 {source="DOID:4000"}
xref: UMLS:C1335184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233811"}
is_a: MONDO:0005140 {source="EFO:1000435", source="MONDO:Redundant", source="NCIT:C5240"} ! ovarian carcinoma
is_a: MONDO:0006474 {source="DOID:4000", source="MONDO:Redundant", source="NCIT:C5240"} ! transitional cell carcinoma
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006344
name: ovarian yolk sac tumor
def: "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." [NCIT:C8107]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107]
synonym: "endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107]
synonym: "endodermal sinus tumor of ovary" EXACT [NCIT:C8107]
synonym: "endodermal sinus tumor of the ovary" EXACT [NCIT:C8107]
synonym: "endodermal sinus tumour of ovary" EXACT OMO:0003005 []
synonym: "endodermal sinus tumour of the ovary" EXACT OMO:0003005 []
synonym: "germ cell endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107]
synonym: "germ cell endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107]
synonym: "germ cell endodermal sinus tumor of ovary" EXACT [NCIT:C8107]
synonym: "germ cell endodermal sinus tumor of the ovary" EXACT [NCIT:C8107]
synonym: "germ cell endodermal sinus tumour of ovary" EXACT OMO:0003005 []
synonym: "germ cell endodermal sinus tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian endodermal sinus neoplasm" EXACT [NCIT:C8107]
synonym: "ovarian endodermal sinus tumor" EXACT [NCIT:C8107]
synonym: "ovarian endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "ovarian germ cell endodermal sinus neoplasm" EXACT [NCIT:C8107]
synonym: "ovarian germ cell endodermal sinus tumor" EXACT [NCIT:C8107]
synonym: "ovarian germ cell endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "ovarian yolk Sac neoplasm" EXACT [NCIT:C8107]
synonym: "ovarian yolk sac tumor" EXACT [DOID:5350, MONDO:0003407, NCIT:C8107]
synonym: "ovary yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "ovary yolk sac tumour" EXACT OMO:0003005 []
synonym: "yolk Sac neoplasm of ovary" EXACT [NCIT:C8107]
synonym: "yolk Sac neoplasm of the ovary" EXACT [NCIT:C8107]
synonym: "yolk sac tumor" RELATED [ONCOTREE:OYST]
synonym: "yolk Sac tumor of ovary" EXACT [NCIT:C8107]
synonym: "yolk Sac tumor of the ovary" EXACT [NCIT:C8107]
synonym: "yolk sac tumour" RELATED OMO:0003005 []
synonym: "yolk Sac tumour of ovary" EXACT OMO:0003005 []
synonym: "yolk Sac tumour of the ovary" EXACT OMO:0003005 []
xref: DOID:5350 {source="MONDO:equivalentTo"}
xref: EFO:1000437 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8107 {source="MONDO:equivalentTo", source="DOID:5350", source="EFO:1000437"}
xref: ONCOTREE:OYST {source="MONDO:equivalentTo"}
xref: SCTID:254876005 {source="MONDO:equivalentTo", source="DOID:5350"}
xref: UMLS:C0346188 {source="MONDO:equivalentTo", source="MEDGEN:83415", source="MONDO:MEDGEN"}
is_a: MONDO:0003408 {source="DOID:5350", source="MONDO:Redundant", source="NCIT:C8107/inferred"} ! ovarian primitive germ cell tumor
is_a: MONDO:0005040 {source="EFO:1000437", source="MONDO:Redundant", source="NCIT:C8107/inferred"} ! germ cell tumor
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C8107"} ! yolk sac tumor
is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C8107"} ! malignant non-dysgerminomatous germ cell tumor of ovary
intersection_of: MONDO:0005744 ! yolk sac tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006345
name: palmar fibromatosis
def: "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." [NCIT:C3469]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dupuytren contracture" EXACT [MONDO:ambiguous, NCIT:C3469]
synonym: "Dupuytren contracture (disease)" EXACT [MONDO:0005360]
synonym: "Dupuytren's contracture" RELATED [NCIT:C3469]
synonym: "palmar fibromatosis" EXACT [NCIT:C3469]
synonym: "palmar part of manus fibromatosis" EXACT [MONDO:patterns/location]
xref: EFO:1000438 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0005679 {source="MONDO:otherHierarchy"}
xref: MEDGEN:903450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004387 {source="MONDO:equivalentTo", source="EFO:0004229"}
xref: NCIT:C3469 {source="MONDO:equivalentTo", source="EFO:1000438", source="NCIT:C3469"}
xref: SCTID:203045001 {source="MONDO:equivalentTo"}
xref: SCTID:274142002 {source="EFO:0004229", source="MONDO:directSiblingOf"}
xref: SCTID:410812005 {source="EFO:0004229"}
xref: UMLS:C4085370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903450"}
is_a: MONDO:0003900 {source="MESH:D004387", source="MONDO:Redundant"} ! connective tissue disorder
is_a: MONDO:0005031 {source="EFO:1000438", source="MONDO:Redundant", source="NCIT:C3469/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! fibromatosis
is_a: MONDO:0016037 {source="NCIT:C3469"} ! superficial Fibromatosis
intersection_of: MONDO:0005031 ! fibromatosis
intersection_of: disease_has_location UBERON:0008878 ! palmar part of manus

[Term]
id: MONDO:0006346
name: pancreatic acinar cell carcinoma
def: "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." [NCIT:C7977]
subset: gard_rare {source="GARD:21777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424046"}
subset: orphanet_rare {source="Orphanet:424046"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acinar cell adenocarcinoma of pancreas" EXACT [NCIT:C7977]
synonym: "acinar cell adenocarcinoma of the pancreas" EXACT [NCIT:C7977]
synonym: "acinar cell carcinoma of pancreas" EXACT [MONDO:0018522, NCIT:C7977]
synonym: "acinar cell carcinoma of the pancreas" EXACT [NCIT:C7977]
synonym: "carcinoma of pancreatic acinar cell" EXACT [MONDO:patterns/carcinoma]
synonym: "PAAC" RELATED ABBREVIATION [ONCOTREE:PAAC]
synonym: "pancreas acinar cell adenocarcinoma" EXACT [NCIT:C7977]
synonym: "pancreatic acinar cell adenocarcinoma" EXACT [MONDO:0003623, NCIT:C7977]
synonym: "Pancreatic acinar cell cancer" EXACT [NCIT:C7977]
synonym: "pancreatic acinar cell carcinoma" EXACT [DOID:5742, MONDO:patterns/location, NCIT:C7977, Orphanet:424046]
xref: DOID:5742 {source="MONDO:equivalentTo"}
xref: EFO:1000439 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21777 {source="MONDO:GARD"}
xref: ICD10CM:C25.0 {source="Orphanet:424046/nd", source="Orphanet:424046"}
xref: ICD10CM:C25.1 {source="Orphanet:424046/nd", source="Orphanet:424046"}
xref: ICD10CM:C25.2 {source="Orphanet:424046/nd", source="Orphanet:424046"}
xref: ICD10CM:C25.7 {source="Orphanet:424046/nd", source="Orphanet:424046"}
xref: ICD10CM:C25.8 {source="Orphanet:424046/nd", source="Orphanet:424046"}
xref: MEDGEN:83540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7977 {source="DOID:5742", source="MONDO:equivalentTo", source="EFO:1000439"}
xref: ONCOTREE:PAAC {source="MONDO:equivalentTo"}
xref: Orphanet:424046 {source="MONDO:equivalentTo"}
xref: UMLS:C0279661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83540"}
is_a: MONDO:0004965 {source="DOID:5742", source="EFO:1000439", source="MONDO:Redundant", source="NCIT:C7977"} ! acinar cell carcinoma
is_a: MONDO:0005192 {source="Orphanet:424046"} ! exocrine pancreatic carcinoma
is_a: MONDO:0006047 {source="DOID:5742", source="MONDO:Redundant", source="NCIT:C7977"} ! pancreatic adenocarcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location CL:0002064 ! pancreatic acinar cell
relationship: disease_has_location CL:0000622 {source="EFO:0000784"} ! acinar cell
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare

[Term]
id: MONDO:0006347
name: pancreatic large cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." [NCIT:C95582]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "large cell neuroendocrine carcinoma of pancreas" EXACT [MONDO:design_pattern]
synonym: "pancreas large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic large cell NEC" EXACT [NCIT:C95582]
synonym: "pancreatic large cell NEC G3" EXACT [NCIT:C95582]
synonym: "pancreatic large cell neuroendocrine carcinoma" EXACT [NCIT:C95582]
xref: EFO:1000442 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:459465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95582 {source="MONDO:equivalentTo", source="EFO:1000442", source="MONDO:exact-label-match"}
xref: UMLS:C2987239 {source="MEDGEN:459465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005057 {source="EFO:1000442", source="MONDO:Redundant", source="NCIT:C95582"} ! large cell neuroendocrine carcinoma
is_a: MONDO:0005192 {source="EFO:1000442", source="MONDO:Redundant", source="MONDO:indirect"} ! exocrine pancreatic carcinoma
is_a: MONDO:0005893 {source="NCIT:C95582"} ! pancreatic endocrine carcinoma
intersection_of: MONDO:0005057 ! large cell neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0006348
name: pancreatic small cell neuroendocrine carcinoma
def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." [NCIT:C95583]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endocrine pancreas small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic small cell NEC" EXACT [NCIT:C95583]
synonym: "pancreatic small cell NEC G3" EXACT [NCIT:C95583]
synonym: "pancreatic small cell neuroendocrine carcinoma" EXACT [NCIT:C95583]
synonym: "small cell carcinoma of endocrine pancreas" EXACT [MONDO:design_pattern]
xref: EFO:1000444 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:459466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95583 {source="MONDO:equivalentTo", source="EFO:1000444"}
xref: UMLS:C2987240 {source="MEDGEN:459466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="NCIT:C95583"} ! small cell carcinoma
is_a: MONDO:0005893 {source="MONDO:Redundant", source="NCIT:C95583"} ! pancreatic endocrine carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0000016 ! endocrine pancreas

[Term]
id: MONDO:0006349
name: papillary cystic neoplasm
def: "A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." [NCIT:C4179]
subset: otar {source="MONDO:OTAR"}
synonym: "papillary cystic neoplasm" EXACT [NCIT:C4179]
synonym: "papillary cystic tumor" EXACT [NCIT:C4179]
synonym: "papillary cystic tumour" EXACT OMO:0003005 []
xref: EFO:1000448 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:137749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4179 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000448"}
xref: UMLS:C0334357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137749"}
is_a: MONDO:0021077 {source="NCIT:C4179"} ! cystic neoplasm
is_a: MONDO:0021096 {source="NCIT:C4179"} ! papillary epithelial neoplasm

[Term]
id: MONDO:0006350
name: papillary transitional cell carcinoma
def: "A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." [NCIT:C4122]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "papillary transitional carcinoma" EXACT [MONDO:0002835, NCIT:C4122]
synonym: "papillary transitional cell carcinoma" EXACT [DOID:4012, NCIT:C4122]
synonym: "papillary transitional cell carcinoma (morphologic abnormality)" EXACT [DOID:4012]
xref: DOID:4012 {source="MONDO:equivalentTo"}
xref: EFO:1000450 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8130/3 {source="NCIT:C4122"}
xref: MEDGEN:137736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4122 {source="DOID:4012", source="EFO:1000450", source="MONDO:equivalentTo"}
xref: SCTID:12400006 {source="DOID:4012"}
xref: UMLS:C0334274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137736"}
is_a: MONDO:0006474 {source="DOID:4012", source="NCIT:C4122"} ! transitional cell carcinoma
is_a: MONDO:0006509 {source="MONDO:Redundant", source="NCIT:C4122"} ! papillary carcinoma
intersection_of: MONDO:0006509 ! papillary carcinoma
intersection_of: disease_arises_from_structure CL:0000731 ! urothelial cell
disjoint_from: MONDO:0016211 ! non-papillary transitional cell carcinoma of the bladder

[Term]
id: MONDO:0006351
name: parachordoma
def: "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." [NCIT:C6581]
subset: otar {source="MONDO:OTAR"}
synonym: "parachordoma" EXACT [NCIT:C6581]
xref: DOID:2647 {source="MONDO:equivalentTo"}
xref: EFO:1000452 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9373/0 {source="NCIT:C6581"}
xref: ICDO:9373/1 {source="NCIT:C6581"}
xref: MEDGEN:266108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6581 {source="EFO:1000452", source="MONDO:equivalentTo", source="DOID:2647", source="MONDO:exact-label-match"}
xref: SCTID:128786009 {source="DOID:2647"}
xref: SCTID:404086000 {source="MONDO:equivalentTo", source="DOID:2647"}
xref: UMLS:C1266175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266108"}
is_a: MONDO:0002380 {source="NCIT:C6581"} ! myoepithelial tumor

[Term]
id: MONDO:0006352
name: paranasal sinus adenoid cystic carcinoma
def: "A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." [NCIT:C6019]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "accessory sinus adenoid cystic carcinoma" EXACT [NCIT:C6019]
synonym: "adenoid cystic carcinoma of accessory sinus" EXACT [NCIT:C6019]
synonym: "adenoid cystic carcinoma of paranasal sinus" EXACT [NCIT:C6019]
synonym: "adenoid cystic carcinoma of the accessory sinus" EXACT [NCIT:C6019]
synonym: "adenoid cystic carcinoma of the paranasal sinus" EXACT [NCIT:C6019]
synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6019]
xref: MEDGEN:233840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6019 {source="EFO:1000454", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335337 {source="MEDGEN:233840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C6019/inferred"} ! head and neck carcinoma
is_a: MONDO:0004971 {source="EFO:1000454", source="MONDO:Redundant", source="NCIT:C6019"} ! adenoid cystic carcinoma
is_a: MONDO:0005289 {source="EFO:1000454", source="MONDO:Redundant", source="NCIT:C6019/inferred"} ! paranasal sinus neoplasm
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus

[Term]
id: MONDO:0006353
name: paranasal sinus Schneiderian papilloma
def: "A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6835]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "accessory sinus Schneiderian papilloma" RELATED [NCIT:C6835]
synonym: "paranasal sinus Schneiderian papilloma" EXACT [NCIT:C6835]
synonym: "Schneiderian papilloma of accessory sinus" RELATED [NCIT:C6835]
synonym: "Schneiderian papilloma of paranasal sinus" RELATED [NCIT:C6835]
synonym: "Schneiderian papilloma of the accessory sinus" RELATED [NCIT:C6835]
synonym: "Schneiderian papilloma of the paranasal sinus" RELATED [NCIT:C6835]
xref: MEDGEN:235462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6835 {source="MONDO:equivalentTo", source="EFO:1000455"}
xref: UMLS:C1335343 {source="MEDGEN:235462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005289 {source="EFO:1000455", source="NCIT:C6835/inferred"} ! paranasal sinus neoplasm
is_a: MONDO:0021078 {source="NCIT:C6835/inferred", source="NCIT:inferred"} ! glandular papilloma

[Term]
id: MONDO:0006354
name: parathyroid hyperplasia
def: "A hyperplasia that involves the parathyroid gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperplasia of parathyroid" EXACT [NCIT:C3989]
synonym: "hyperplasia of the parathyroid" EXACT [NCIT:C3989]
synonym: "parathyroid gland hyperplasia" EXACT [MONDO:patterns/location]
synonym: "parathyroid hyperplasia" EXACT [MONDO:ambiguous, NCIT:C3989]
synonym: "parathyroid hyperplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:1000457 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0008208 {source="MONDO:otherHierarchy"}
xref: MEDGEN:75767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3989 {source="MONDO:equivalentTo", source="EFO:1000457"}
xref: SCTID:9092004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271844 {source="MEDGEN:75767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001223 {source="MONDO:Redundant"} ! parathyroid gland disorder
is_a: MONDO:0005043 {source="EFO:1000457", source="MONDO:Redundant", source="NCIT:C3989"} ! hyperplasia
intersection_of: MONDO:0005043 ! hyperplasia
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland
property_value: IAO:0000589 "parathyroid hyperplasia (disease)" xsd:string

[Term]
id: MONDO:0006355
name: parotid gland acinic cell carcinoma
def: "An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." [NCIT:C5933]
subset: otar {source="MONDO:OTAR"}
synonym: "acinic cell carcinoma of parotid" RELATED [NCIT:C5933]
synonym: "acinic cell carcinoma of parotid gland" RELATED [NCIT:C5933]
synonym: "acinic cell carcinoma of the parotid" RELATED [NCIT:C5933]
synonym: "acinic cell carcinoma of the parotid gland" RELATED [NCIT:C5933]
synonym: "parotid acinic cell carcinoma" RELATED [NCIT:C5933]
synonym: "parotid gland acinar cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "parotid gland acinic cell carcinoma" EXACT [NCIT:C5933]
xref: EFO:1000458 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5933 {source="MONDO:equivalentTo", source="EFO:1000458", source="NCIT:C5933"}
xref: UMLS:C1335353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277501"}
is_a: MONDO:0004700 {source="MONDO:Redundant", source="NCIT:C5933/inferred"} ! parotid gland cancer
is_a: MONDO:0004965 {source="EFO:1000458", source="MONDO:Redundant", source="NCIT:C5933/inferred"} ! acinar cell carcinoma
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5933/inferred"} ! major salivary gland carcinoma
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5933/inferred"} ! carcinoma of parotid gland
intersection_of: MONDO:0004965 ! acinar cell carcinoma
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0006356
name: parotid gland adenoid cystic carcinoma
def: "An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5937]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of parotid" EXACT [NCIT:C5937]
synonym: "adenoid cystic carcinoma of parotid gland" EXACT [NCIT:C5937]
synonym: "adenoid cystic carcinoma of the parotid" EXACT [NCIT:C5937]
synonym: "adenoid cystic carcinoma of the parotid gland" EXACT [NCIT:C5937]
synonym: "parotid adenoid cystic carcinoma" EXACT [NCIT:C5937]
synonym: "parotid gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:0050931 {source="MONDO:equivalentTo"}
xref: EFO:1000459 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5937 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000459"}
xref: SCTID:423615009 {source="MONDO:equivalentTo"}
xref: UMLS:C1335355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277502"}
is_a: MONDO:0003175 {source="MONDO:Entailed", source="NCIT:C5937/inferred"} ! salivary gland adenoid cystic carcinoma
is_a: MONDO:0004700 {source="DOID:0050931", source="MONDO:Redundant", source="NCIT:C5937/inferred"} ! parotid gland cancer
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5937/inferred"} ! major salivary gland carcinoma
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5937"} ! carcinoma of parotid gland
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0006357
name: parotid gland carcinoma ex pleomorphic adenoma
def: "A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C5974]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma ex pleomorphic adenoma of parotid" EXACT [NCIT:C5974]
synonym: "carcinoma ex pleomorphic adenoma of parotid gland" EXACT [NCIT:C5974]
synonym: "carcinoma ex pleomorphic adenoma of the parotid" EXACT [NCIT:C5974]
synonym: "carcinoma ex pleomorphic adenoma of the parotid gland" EXACT [NCIT:C5974]
synonym: "parotid carcinoma ex pleomorphic adenoma" EXACT [NCIT:C5974]
synonym: "parotid gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C5974]
xref: EFO:1000461 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5974 {source="EFO:1000461", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:425127006 {source="MONDO:equivalentTo"}
xref: UMLS:C1335356 {source="MONDO:equivalentTo", source="MEDGEN:233311", source="MONDO:MEDGEN"}
is_a: MONDO:0004700 {source="MONDO:Redundant", source="NCIT:C5974/inferred"} ! parotid gland cancer
is_a: MONDO:0006285 {source="MONDO:Redundant", source="NCIT:C5974"} ! major salivary gland carcinoma ex pleomorphic adenoma
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5974"} ! carcinoma of parotid gland
intersection_of: MONDO:0002472 ! carcinoma ex pleomorphic adenoma
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0006358
name: parotid gland squamous cell carcinoma
def: "An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." [NCIT:C5942]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "parotid gland squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "parotid squamous cell carcinoma" EXACT [NCIT:C5942]
synonym: "squamous cell carcinoma of parotid" EXACT [NCIT:C5942]
synonym: "squamous cell carcinoma of parotid gland" EXACT [NCIT:C5942]
synonym: "squamous cell carcinoma of the parotid" EXACT [NCIT:C5942]
synonym: "squamous cell carcinoma of the parotid gland" EXACT [NCIT:C5942]
xref: EFO:1000463 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5942 {source="EFO:1000463", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233317"}
is_a: MONDO:0004700 {source="MONDO:Redundant", source="NCIT:C5942/inferred"} ! parotid gland cancer
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5942/inferred"} ! major salivary gland carcinoma
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5942"} ! carcinoma of parotid gland
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0006359
name: neoplasm with perivascular epithelioid cell differentiation
def: "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." [NCIT:C38150]
comment: MeSH definition: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). {source="EFO:1000464"}
subset: gard_rare {source="GARD:22383", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:595133"}
subset: orphanet_rare {source="Orphanet:595133"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm with perivascular epithelioid cell differentiation" EXACT [DOID:2643, NCIT:C38150]
synonym: "PEComa" EXACT [DOID:2643, Orphanet:595133]
synonym: "perivascular epithelioid cell neoplasm" EXACT [https://orcid.org/0000-0001-9310-0163]
synonym: "perivascular epithelioid cell tumor" EXACT [DOID:2643, Orphanet:595133]
synonym: "perivascular epithelioid cell tumour" EXACT OMO:0003005 []
synonym: "tumor with perivascular epithelioid cell differentiation" EXACT [NCIT:C38150]
synonym: "tumour with perivascular epithelioid cell differentiation" EXACT OMO:0003005 []
xref: DOID:2643 {source="MONDO:equivalentTo", source="EFO:1000464"}
xref: EFO:1000464 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22383 {source="MONDO:GARD"}
xref: ICD10CM:D21.9 {source="Orphanet:595133/ntbt", source="Orphanet:595133"}
xref: MEDGEN:266246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054973 {source="MONDO:equivalentTo", source="DOID:2643", source="EFO:1000464"}
xref: NCIT:C38150 {source="MONDO:equivalentTo", source="DOID:2643", source="EFO:1000464"}
xref: ONCOTREE:PECOMA {source="MONDO:equivalentTo"}
xref: Orphanet:595133 {source="MONDO:equivalentTo"}
xref: SCTID:388601000 {source="DOID:2643"}
xref: UMLS:C1300127 {source="MEDGEN:266246", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006424 {source="NCIT:C38150/inferred", source="ONCOTREE:PECOMA", source="Orphanet:595133"} ! soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0002604 {source="DOID:2643", source="https://orcid.org/0000-0001-5208-3432"} ! pericytic neoplasm

[Term]
id: MONDO:0006360
name: penile carcinoma
def: "A carcinoma that arises from epithelial cells of the penis" [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of penis" BROAD [NCIT:C9061]
synonym: "cancer of the penis" BROAD [NCIT:C9061]
synonym: "cancer penis" BROAD [GARD:0009366]
synonym: "carcinoma of penis" EXACT [MONDO:patterns/carcinoma, NCIT:C9061]
synonym: "carcinoma of the penis" EXACT [NCIT:C9061]
synonym: "penile cancer" BROAD [NCIT:C9061]
synonym: "penile cancer, adult" NARROW [GARD:0009366]
synonym: "penile cancer, NOS" BROAD EXCLUDE [NCIT:C9061]
synonym: "penile carcinoma" EXACT [DOID:3449, NCIT:C9061]
synonym: "penis carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:3449 {source="EFO:1000465", source="MONDO:equivalentTo"}
xref: EFO:1000465 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:208877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9061 {source="EFO:1000465", source="MONDO:equivalentTo", source="DOID:3449"}
xref: SCTID:372106005 {source="MONDO:equivalentTo", source="DOID:3449"}
xref: UMLS:C0853105 {source="MEDGEN:208877", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001325 {source="DOID:3449", source="MONDO:Redundant", source="NCIT:C9061"} ! penile cancer
is_a: MONDO:0004993 {source="DOID:3449", source="EFO:1000465", source="MONDO:Redundant", source="NCIT:C9061"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0006361
name: obsolete penile fibromatosis
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000466 {source="MONDO:obsoleteEquivalent", source="MONDO:EFO"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7142" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008231

[Term]
id: MONDO:0006362
name: peritoneal mesothelioma
def: "A benign or malignant mesothelial neoplasm that arises from the peritoneum." [NCIT:C7633]
subset: otar {source="MONDO:OTAR"}
synonym: "mesothelioma of peritoneum" EXACT [NCIT:C7633]
synonym: "mesothelioma of the peritoneum" EXACT [NCIT:C7633]
synonym: "peritoneal mesothelioma" EXACT [MONDO:ambiguous, NCIT:C7633]
synonym: "peritoneal mesothelioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "peritoneum mesothelioma" EXACT [MONDO:patterns/location]
xref: EFO:1000467 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100003 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C45.1 {source="DOID:1788"}
xref: MEDGEN:237171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7633 {source="MONDO:equivalentTo", source="EFO:1000467"}
xref: ONCOTREE:PEMESO {source="MONDO:equivalentTo"}
xref: SCTID:109853004 {source="MONDO:equivalentTo", source="DOID:1788"}
xref: SCTID:187806007 {source="DOID:1788"}
xref: UMLS:C1377610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237171"}
is_a: MONDO:0005065 {source="EFO:1000467", source="MONDO:Redundant", source="NCIT:C7633"} ! mesothelioma
is_a: MONDO:0006901 {source="MONDO:Redundant", source="NCIT:C7633"} ! peritoneal neoplasm
intersection_of: MONDO:0005065 ! mesothelioma
intersection_of: disease_has_location UBERON:0002358 ! peritoneum
property_value: IAO:0000589 "peritoneal mesothelioma (disease)" xsd:string

[Term]
id: MONDO:0006363
name: peritoneal multicystic mesothelioma
def: "A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare." [NCIT:C6536]
subset: gard_rare {source="GARD:10777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168816"}
subset: orphanet_rare {source="Orphanet:168816"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign cystic peritoneal mesothelioma" RELATED [GARD:0010777]
synonym: "benign multicystic peritoneal mesothelioma" NARROW [Orphanet:168816]
synonym: "BMPM" RELATED ABBREVIATION [GARD:0010777]
synonym: "multicystic mesothelioma" EXACT [Orphanet:168816]
synonym: "multicystic mesothelioma of peritoneum" EXACT [NCIT:C6536]
synonym: "multicystic mesothelioma of the peritoneum" EXACT [NCIT:C6536]
synonym: "multilocular peritoneal cysts" RELATED [GARD:0010777]
synonym: "multilocular peritoneal inclusion cyst" EXACT [NCIT:C6536, Orphanet:168816]
synonym: "multilocular peritoneal inclusion cysts" RELATED [GARD:0010777]
synonym: "peritoneal cystic mesothelioma" EXACT [MONDO:0015685, Orphanet:168816]
synonym: "peritoneal multicystic mesothelioma" EXACT [NCIT:C6536]
xref: EFO:1000468 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10777 {source="MONDO:GARD"}
xref: ICD10CM:C45.1 {source="Orphanet:168816/ntbt", source="Orphanet:168816"}
xref: MEDGEN:233198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6536 {source="MONDO:equivalentTo", source="EFO:1000468"}
xref: Orphanet:168816 {source="MONDO:equivalentTo"}
xref: SCTID:716650003 {source="MONDO:equivalentTo"}
xref: UMLS:C1334818 {source="MEDGEN:233198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006362 {source="NCIT:C6536"} ! peritoneal mesothelioma

[Term]
id: MONDO:0006364
name: peritoneal well differentiated papillary mesothelioma
def: "A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." [NCIT:C45661]
subset: otar {source="MONDO:OTAR"}
synonym: "peritoneal WDPM" EXACT [NCIT:C45661]
synonym: "peritoneal well differentiated papillary mesothelioma" EXACT [NCIT:C45661]
xref: EFO:1000469 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:318015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45661 {source="MONDO:equivalentTo", source="EFO:1000469", source="MONDO:exact-label-match"}
xref: UMLS:C1709507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318015"}
is_a: MONDO:0003688 {source="NCIT:C45661"} ! well differentiated papillary mesothelioma
is_a: MONDO:0006362 {source="MONDO:Redundant", source="NCIT:C45661"} ! peritoneal mesothelioma

[Term]
id: MONDO:0006365
name: Peutz-Jeghers polyp
def: "A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002" [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Peutz Jeghers polyp" EXACT [NCIT:C4733]
synonym: "Peutz-Jeghers polyp" EXACT [NCIT:C4733]
xref: EFO:1000470 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:141582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4733 {source="EFO:1000470", source="MONDO:equivalentTo"}
xref: UMLS:C0456487 {source="MONDO:equivalentTo", source="MEDGEN:141582", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:1000470", source="MONDO:Redundant", source="NCIT:C4733/inferred"} ! polyp
is_a: MONDO:0006231 {source="NCIT:C4733"} ! gastrointestinal hamartoma

[Term]
id: MONDO:0006366
name: Peutz-Jeghers polyp of the stomach
def: "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." [NCIT:P378]
synonym: "Gastric Peutz-Jeghers polyp" EXACT [NCIT:C36205]
xref: MEDGEN:233323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36205 {source="EFO:1000471", source="MONDO:equivalentTo"}
xref: UMLS:C1335398 {source="MEDGEN:233323", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:1000471", source="MONDO:Redundant", source="NCIT:C36205/inferred"} ! polyp
intersection_of: MONDO:0006365 ! Peutz-Jeghers polyp
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: excluded_subClassOf MONDO:0008280 {source="EFO:1000471", source="https://orcid.org/0000-0001-5208-3432"} ! Peutz-Jeghers syndrome

[Term]
id: MONDO:0006367
name: pharyngeal adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the pharynx." [NCIT:C5818]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenoid cystic carcinoma of pharynx" EXACT [NCIT:C5818]
synonym: "adenoid cystic carcinoma of the pharynx" EXACT [NCIT:C5818]
synonym: "pharyngeal adenoid cystic carcinoma" EXACT [NCIT:C5818]
synonym: "pharyngeal throat adenoid cystic cancer" EXACT [NCIT:C5818]
synonym: "pharynx adenoid cystic carcinoma" EXACT [NCIT:C5818]
xref: MEDGEN:233324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5818 {source="EFO:1000472", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233324"}
is_a: MONDO:0004971 {source="EFO:1000472", source="NCIT:C5818"} ! adenoid cystic carcinoma
is_a: MONDO:0005517 {source="MONDO:Redundant", source="NCIT:C5818/inferred"} ! pharynx cancer
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C5818"} ! carcinoma of pharynx
relationship: disease_has_location UBERON:0001042 ! chordate pharynx

[Term]
id: MONDO:0006368
name: phosphaturic mesenchymal tumor
def: "An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." [NCIT:C67237]
subset: otar {source="MONDO:OTAR"}
synonym: "phosphaturic mesenchymal tumor" EXACT [NCIT:C67237]
synonym: "phosphaturic mesenchymal tumor, mixed connective tissue type" EXACT [NCIT:C67237]
synonym: "phosphaturic mesenchymal tumor, mixed connective tissue variant" RELATED [NCIT:C67237]
xref: EFO:1000473 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:371179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C67237 {source="EFO:1000473", source="MONDO:equivalentTo", source="NCIT:C67237"}
xref: UMLS:C1831619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371179"}
is_a: MONDO:0005070 {source="EFO:1000473", source="NCIT:C67237/inferred"} ! neoplasm

[Term]
id: MONDO:0006369
name: pineal parenchymal tumor of intermediate differentiation
def: "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" [NCIT:C6967]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163).
subset: gard_rare {source="GARD:10644", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:251919"}
subset: orphanet_rare {source="Orphanet:251919"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [DOID:5030, NCIT:C6967]
synonym: "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" EXACT [DOID:5030]
synonym: "pineal parenchymal tumors of intermediate differentiation" RELATED [GARD:0010644]
synonym: "pineal parenchymal tumour of intermediate differentiation (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "pineal parenchymal tumours of intermediate differentiation" RELATED OMO:0003005 []
synonym: "PPTID" RELATED ABBREVIATION [GARD:0010644, ONCOTREE:PPTID]
xref: DOID:5030 {source="MONDO:equivalentTo"}
xref: EFO:1000474 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10644 {source="MONDO:GARD"}
xref: ICD10CM:D44.5 {source="Orphanet:251919/ntbt", source="Orphanet:251919"}
xref: MEDGEN:234566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6967 {source="EFO:1000474", source="MONDO:equivalentTo", source="DOID:5030", source="MONDO:exact-label-match"}
xref: ONCOTREE:PPTID {source="MONDO:equivalentTo"}
xref: Orphanet:251919 {source="MONDO:equivalentTo"}
xref: SCTID:31671006 {source="DOID:5030"}
xref: SCTID:397379005 {source="DOID:5030"}
xref: SCTID:715904005 {source="MONDO:equivalentTo"}
xref: UMLS:C1367859 {source="MEDGEN:234566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021232 {source="https://orcid.org/0000-0002-5002-8648"} ! pineal body neoplasm
is_a: MONDO:0024890 {source="NCIT:C6967", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pineal parenchymal cell neoplasm
relationship: excluded_subClassOf MONDO:0016722 {source="DOID:5030", source="https://orcid.org/0000-0001-5208-3432"} ! pineoblastoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6505" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0006370
name: obsolete pineoblastoma
is_obsolete: true
replaced_by: MONDO:0016722

[Term]
id: MONDO:0006371
name: obsolete pineocytoma
is_obsolete: true
replaced_by: MONDO:0016723

[Term]
id: MONDO:0006372
name: pituicytoma
def: "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." [NCIT:C94524]
subset: gard_rare {source="GARD:20711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251623"}
subset: orphanet_rare {source="Orphanet:251623"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pituicytoma" EXACT [NCIT:C94524]
synonym: "pituicytoma (WHO grade I)" EXACT [NCIT:C94524]
synonym: "posterior pituitary astrocytoma" EXACT [NCIT:C94524]
synonym: "PTCY" RELATED ABBREVIATION [ONCOTREE:PTCY]
xref: DOID:0081280 {source="MONDO:equivalentTo"}
xref: EFO:1000477 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20711 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251623", source="Orphanet:251623/ntbt"}
xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9432/1 {source="NCIT:C94524"}
xref: MEDGEN:458776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C94524 {source="MONDO:equivalentTo", source="EFO:1000477"}
xref: ONCOTREE:PTCY {source="MONDO:equivalentTo"}
xref: Orphanet:251623 {source="MONDO:equivalentTo"}
xref: SCTID:608817003 {source="MONDO:equivalentTo"}
xref: UMLS:C2986550 {source="MEDGEN:458776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003257 {source="NCIT:C94524"} ! posterior pituitary gland neoplasm
is_a: MONDO:0016685 {source="Orphanet:251623"} ! low-grade astrocytoma

[Term]
id: MONDO:0006373
name: pituitary gland adenoma
def: "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." [NCIT:C3329]
subset: disease_grouping
subset: gard_rare {source="GARD:19680", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:99408"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoma of pituitary" EXACT [NCIT:C3329]
synonym: "adenoma of pituitary gland" EXACT [NCIT:C3329]
synonym: "adenoma of the pituitary" EXACT [NCIT:C3329]
synonym: "adenoma of the pituitary gland" EXACT [DOID:3829, NCIT:C3329]
synonym: "adenoma, anterior lobe pituitary gland, benign" EXACT [NCIT:C3329]
synonym: "pituitary adenoma" EXACT [MONDO:0020471, NCIT:C3329]
synonym: "pituitary gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3329]
synonym: "PTAD" RELATED ABBREVIATION [ONCOTREE:PTAD]
xref: DOID:3829 {source="MONDO:equivalentTo", source="EFO:1000478"}
xref: EFO:1000478 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19680 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="Orphanet:99408", source="Orphanet:99408/ntbt", source="MONDO:directSiblingOf"}
xref: ICDO:8272/0 {source="NCIT:C3329"}
xref: MedDRA:10035079 {source="EFO:1000478", source="Orphanet:99408", source="Orphanet:99408/e"}
xref: MEDGEN:45933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010911 {source="DOID:3829"}
xref: NANDO:2200095 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3329 {source="MONDO:equivalentTo", source="EFO:1000478", source="DOID:3829"}
xref: ONCOTREE:PTAD {source="MONDO:equivalentTo"}
xref: Orphanet:99408 {source="MONDO:equivalentTo", source="EFO:1000478"}
xref: SCTID:128664001 {source="DOID:3829"}
xref: SCTID:154621002 {source="DOID:3829"}
xref: SCTID:189178001 {source="DOID:3829"}
xref: SCTID:254956000 {source="MONDO:equivalentTo", source="EFO:1000478", source="DOID:3829"}
xref: SCTID:269643009 {source="DOID:3829"}
xref: SCTID:367095008 {source="DOID:3829"}
xref: UMLS:C0032000 {source="MEDGEN:45933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003381 {source="DOID:3829", source="MONDO:Redundant", source="NCIT:C3329/inferred"} ! pituitary gland disorder
is_a: MONDO:0004972 {source="DOID:3829", source="EFO:1000478", source="MONDO:Redundant", source="NCIT:C3329"} ! adenoma
is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C3329/inferred", source="Orphanet:99408"} ! pituitary tumor
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
relationship: excluded_subClassOf MONDO:0000627 {source="DOID:3829", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! benign endocrine neoplasm

[Term]
id: MONDO:0006374
name: placental choriocarcinoma
def: "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." [NCIT:C8893]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choriocarcinoma of placenta" RELATED [NCIT:C8893]
synonym: "choriocarcinoma of the placenta" EXACT [DOID:2024, NCIT:C8893]
synonym: "placenta choriocarcinoma" RELATED [NCIT:C8893]
synonym: "placenta choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "placental choriocarcinoma" EXACT [NCIT:C8893]
xref: DOID:2024 {source="MONDO:equivalentTo"}
xref: EFO:1000479 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:167782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8893 {source="DOID:2024", source="MONDO:equivalentTo", source="EFO:1000479"}
xref: SCTID:448401007 {source="DOID:2024", source="MONDO:equivalentTo"}
xref: UMLS:C0855173 {source="MEDGEN:167782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002178 {source="DOID:2024/inferred", source="MONDO:Redundant", source="NCIT:C8893"} ! placenta cancer
is_a: MONDO:0020550 {source="DOID:2024", source="NCIT:C8893"} ! gestational choriocarcinoma
intersection_of: MONDO:0005207 ! choriocarcinoma
intersection_of: disease_has_location UBERON:0001987 ! placenta

[Term]
id: MONDO:0006375
name: placental hemangioma
def: "A hemangioma arising from the fetal blood vessels in the placental villi." [NCIT:C4868]
subset: otar {source="MONDO:OTAR"}
synonym: "angioma of placenta" RELATED [NCIT:C4868]
synonym: "angioma of the placenta" RELATED [NCIT:C4868]
synonym: "Chorangioma" EXACT [NCIT:C4868]
synonym: "Chorangioma of the placenta" RELATED [NCIT:C4868]
synonym: "Chorangioma placentae" RELATED [NCIT:C4868]
synonym: "chorioangioma" EXACT [MONDO:0002421]
synonym: "hemangioma of placenta" EXACT [NCIT:C4868]
synonym: "hemangioma of the placenta" RELATED [NCIT:C4868]
synonym: "placenta hemangioma" EXACT [MONDO:patterns/location]
synonym: "placental angioma" RELATED [NCIT:C4868]
synonym: "placental hemangioma" EXACT [DOID:277, NCIT:C4868]
xref: DOID:277 {source="MONDO:equivalentTo"}
xref: EFO:1000480 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:219.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:195606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006391 {source="DOID:277"}
xref: NCIT:C4868 {source="EFO:1000480", source="MONDO:equivalentTo", source="DOID:277", source="NCIT:C4868"}
xref: SCTID:2099007 {source="DOID:277"}
xref: SCTID:237268002 {source="MONDO:equivalentTo", source="DOID:277"}
xref: SCTID:699948001 {source="DOID:277"}
xref: UMLS:C0677608 {source="MEDGEN:195606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005917 {source="MONDO:Redundant", source="NCIT:C4868/inferred"} ! placenta disorder
is_a: MONDO:0021498 {source="MONDO:Redundant", source="NCIT:C4868"} ! benign neoplasm of placenta
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0001987 ! placenta
relationship: excluded_subClassOf MONDO:0002337 {source="DOID:277", source="https://orcid.org/0000-0001-5208-3432"} ! intra-abdominal hemangioma

[Term]
id: MONDO:0006376
name: obsolete plantar fibromatosis
def: "OBSOLETE. A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." [NCIT:C4680]
is_obsolete: true
replaced_by: MONDO:0004684

[Term]
id: MONDO:0006377
name: pleural biphasic mesothelioma
def: "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." [NCIT:C45665]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pleural biphasic mesothelioma" EXACT [NCIT:C45665]
xref: EFO:1000483 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:311130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45665 {source="EFO:1000483", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1709570 {source="MEDGEN:311130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005065 {source="EFO:1000483", source="MONDO:Redundant", source="NCIT:C45665/inferred"} ! mesothelioma
is_a: MONDO:0006109 {source="NCIT:C45665"} ! malignant biphasic mesothelioma

[Term]
id: MONDO:0006378
name: pleural epithelioid mesothelioma
def: "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." [NCIT:C45662]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant epithelioid mesothelioma of pleura" EXACT [MONDO:design_pattern]
synonym: "pleura malignant epithelioid mesothelioma" EXACT [MONDO:patterns/location]
synonym: "pleural epithelioid mesothelioma" EXACT [NCIT:C45662]
xref: EFO:1000484 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:318031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45662 {source="EFO:1000484", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1709574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318031"}
is_a: MONDO:0005112 {source="MONDO:Redundant", source="NCIT:C45662"} ! malignant pleural mesothelioma
is_a: MONDO:0005599 {source="MONDO:Redundant", source="NCIT:C45662"} ! malignant epithelioid mesothelioma
intersection_of: MONDO:0005599 ! malignant epithelioid mesothelioma
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0006379
name: obsolete pleural mesothelioma
synonym: "obsolete pleural mesothelioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete pleural mesothelioma (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0003308

[Term]
id: MONDO:0006380
name: pleural sarcomatoid mesothelioma
def: "Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." [NCIT:C45663]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pleura sarcomatoid mesothelioma" EXACT [MONDO:patterns/location]
synonym: "pleural sarcomatoid mesothelioma" EXACT [NCIT:C45663]
synonym: "sarcomatoid mesothelioma of pleura" EXACT [MONDO:design_pattern]
xref: EFO:1000486 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:354059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45663 {source="MONDO:equivalentTo", source="EFO:1000486", source="MONDO:exact-label-match"}
xref: UMLS:C1709578 {source="MEDGEN:354059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003308 {source="MONDO:Redundant", source="NCIT:C45663/inferred"} ! pleural mesothelioma
is_a: MONDO:0005065 {source="EFO:1000486", source="MONDO:Redundant", source="NCIT:C45663/inferred"} ! mesothelioma
is_a: MONDO:0005112 {source="MONDO:Redundant", source="NCIT:C45663"} ! malignant pleural mesothelioma
is_a: MONDO:0006407 {source="MONDO:Redundant", source="NCIT:C45663"} ! sarcomatoid mesothelioma
intersection_of: MONDO:0006407 ! sarcomatoid mesothelioma
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0006381
name: plexiform ameloblastoma
def: "A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:1000487 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:96838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39753 {source="EFO:1000487", source="MONDO:equivalentTo"}
xref: UMLS:C0457529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96838"}
is_a: MONDO:0005070 {source="EFO:1000487", source="MONDO:Redundant", source="NCIT:C39753/inferred"} ! neoplasm
is_a: MONDO:0017795 {source="NCIT:C39753/inferred"} ! ameloblastoma

[Term]
id: MONDO:0006382
name: poorly differentiated thyroid gland carcinoma
def: "An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)" [NCIT:C6040]
subset: otar {source="MONDO:OTAR"}
synonym: "insular carcinoma" EXACT [NCIT:C6040]
synonym: "poorly differentiated carcinoma of the thyroid gland" EXACT [NCIT:C6040]
synonym: "poorly differentiated carcinoma of thyroid gland" EXACT [NCIT:C6040]
synonym: "poorly differentiated thyroid cancer" RELATED [ONCOTREE:THPD]
synonym: "poorly differentiated thyroid carcinoma" EXACT [NCIT:C6040]
synonym: "poorly differentiated thyroid gland cancer" EXACT [NCIT:C6040]
synonym: "poorly differentiated thyroid gland carcinoma" EXACT [NCIT:C6040]
synonym: "thyroid gland poorly differentiated carcinoma" EXACT [NCIT:C6040]
xref: EFO:1000489 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8337/3 {source="NCIT:C6040"}
xref: MEDGEN:266094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6040 {source="MONDO:equivalentTo", source="EFO:1000489", source="MONDO:exact-label-match"}
xref: ONCOTREE:THPD {source="MONDO:equivalentTo"}
xref: UMLS:C1266050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266094"}
is_a: MONDO:0004970 {source="EFO:1000489", source="NCIT:C6040/inferred"} ! adenocarcinoma

[Term]
id: MONDO:0006383
name: primary cutaneous diffuse large B-cell lymphoma, Leg type
def: "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." [NCIT:C45194]
subset: gard_rare {source="GARD:20160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178544"}
subset: orphanet_rare {source="Orphanet:178544"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCDLBCL,LT" EXACT [Orphanet:178544]
synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [MONDO:0015815]
xref: EFO:1000490 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20160 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:178544/ntbt", source="Orphanet:178544"}
xref: icd11.foundation:1418101362 {source="Orphanet:178544", source="MONDO:equivalentTo"}
xref: ICDO:9680/3 {source="NCIT:C45194"}
xref: MEDGEN:311155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45194 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000490"}
xref: Orphanet:178544 {source="MONDO:equivalentTo"}
xref: UMLS:C1709656 {source="MEDGEN:311155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018905 {source="EFO:1000490", source="NCIT:C45194/inferred"} ! diffuse large B-cell lymphoma
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0006384
name: obsolete primary effusion lymphoma
is_obsolete: true
replaced_by: MONDO:0018842

[Term]
id: MONDO:0006385
name: primary intraosseous squamous cell carcinoma
def: "A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PIOSCC" EXACT ABBREVIATION [NCIT:C54295]
xref: EFO:1000492 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:313618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54295 {source="EFO:1000492", source="MONDO:equivalentTo"}
xref: UMLS:C1709663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313618"}
is_a: MONDO:0010150 {source="EFO:1000492", source="NCIT:C54295/inferred"} ! head and neck squamous cell carcinoma

[Term]
id: MONDO:0006386
name: primary peritoneal serous adenocarcinoma
def: "A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity." [doi:10.4103/2278-0513.157944]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "primary peritoneal serous adenocarcinoma" EXACT [NCIT:C40023]
xref: EFO:1000494 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:269517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40023 {source="EFO:1000494", source="MONDO:equivalentTo"}
xref: UMLS:C1514429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:269517"}
is_a: MONDO:0005278 {source="EFO:1000494", source="NCIT:C40023"} ! serous adenocarcinoma
is_a: MONDO:0015686 {source="NCIT:C40023"} ! primary peritoneal carcinoma

[Term]
id: MONDO:0006387
name: primary pulmonary diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." [NCIT:C45605]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse large B-cell lymphoma of lung" EXACT []
synonym: "high grade MALT lymphoma of the lung" EXACT [NCIT:C45605]
synonym: "lung diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location]
synonym: "primary pulmonary diffuse large B-cell lymphoma" EXACT [NCIT:C45605]
synonym: "pulmonary diffuse large B-cell lymphoma" EXACT [NCIT:C45605]
xref: EFO:1000495 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1789549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45605 {source="EFO:1000495", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C2200138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1789549"}
is_a: MONDO:0005062 {source="EFO:1000495", source="MONDO:Redundant", source="NCIT:C45605/inferred"} ! lymphoma
is_a: MONDO:0018905 {source="NCIT:C45605"} ! diffuse large B-cell lymphoma
is_a: MONDO:0020644 {source="NCIT:C45605"} ! lung non-Hodgkin lymphoma
intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0006388
name: prolactin-producing pituitary gland carcinoma
def: "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." [NCIT:C5962]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant pituitary gland prolactinoma" EXACT [NCIT:C5962]
synonym: "malignant pituitary prolactinoma" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing neoplasm of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing neoplasm of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing neoplasm of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary gland neoplasm" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary gland tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant prolactin producing pituitary neoplasm" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant prolactin producing tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumor of the pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin producing tumour" EXACT OMO:0003005 []
synonym: "malignant prolactin producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant prolactin producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant prolactin producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant prolactin producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant prolactin secreting neoplasm of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary gland tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "malignant prolactin secreting pituitary neoplasm" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary tumor" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "malignant prolactin secreting tumor of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting tumor of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting tumor of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactin secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "malignant prolactin secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "malignant prolactin secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "malignant prolactin secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "malignant prolactinoma" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma of pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma of pituitary gland" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma of the pituitary" EXACT [NCIT:C5962]
synonym: "malignant prolactinoma of the pituitary gland" EXACT [NCIT:C5962]
synonym: "PRL producing pituitary gland carcinoma" EXACT [NCIT:C5962]
synonym: "prolactin producing pituitary gland carcinoma" EXACT [NCIT:C5962]
synonym: "prolactin-producing pituitary gland carcinoma" EXACT [NCIT:C5962]
xref: EFO:1000497 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5962 {source="MONDO:equivalentTo", source="EFO:1000497"}
xref: UMLS:C1334614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277338"}
is_a: MONDO:0003430 {source="NCIT:C5962"} ! prolactin producing pituitary tumor
is_a: MONDO:0004970 {source="EFO:1000497", source="MONDO:0006388/inferred", source="MONDO:Redundant", source="NCIT:C5962/inferred"} ! adenocarcinoma
is_a: MONDO:0017582 {source="MONDO:Redundant", source="NCIT:C5962"} ! pituitary adenocarcinoma

[Term]
id: MONDO:0006389
name: prostate rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." [NCIT:C5522]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "prostate gland rhabdomyosarcoma" EXACT []
synonym: "prostate gland rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "prostate rhabdomyosarcoma" EXACT [NCIT:C5522]
synonym: "rhabdomyosarcoma (disease) of prostate gland" EXACT []
synonym: "rhabdomyosarcoma of prostate" EXACT [NCIT:C5522]
synonym: "rhabdomyosarcoma of the prostate" EXACT [DOID:3252, NCIT:C5522]
xref: DOID:3252 {source="MONDO:equivalentTo"}
xref: EFO:1000498 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5522 {source="EFO:1000498", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3252"}
xref: UMLS:C1335518 {source="MEDGEN:233356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002854 {source="DOID:3252", source="MONDO:Redundant", source="NCIT:C5522"} ! prostate sarcoma
is_a: MONDO:0005212 {source="DOID:3252", source="EFO:1000498", source="MONDO:Redundant", source="NCIT:C5522"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0006390
name: prostate small cell carcinoma
def: "A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." [NCIT:C6766]
comment: Editor note: DO classifies as lung oat cell carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Oat cell carcinoma of prostate" EXACT [NCIT:C6766]
synonym: "Oat cell carcinoma of the prostate" EXACT [NCIT:C6766]
synonym: "prostate gland small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "prostate Oat cell carcinoma" EXACT [NCIT:C6766]
synonym: "prostate oat cell carcinoma" EXACT [DOID:7141, NCIT:C6766]
synonym: "prostate small cell carcinoma" EXACT [NCIT:C6766]
synonym: "prostate small cell NEC" EXACT [NCIT:C6766]
synonym: "prostate small cell neuroendocrine carcinoma" EXACT [NCIT:C6766]
synonym: "PRSCC" RELATED ABBREVIATION [ONCOTREE:PRSCC]
synonym: "small cell carcinoma of prostate" EXACT [NCIT:C6766]
synonym: "small cell carcinoma of prostate gland" EXACT [MONDO:design_pattern]
synonym: "small cell carcinoma of the prostate" EXACT [NCIT:C6766]
xref: DOID:7141 {source="MONDO:equivalentTo"}
xref: EFO:1000499 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:266251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6766 {source="MONDO:equivalentTo", source="EFO:1000499", source="DOID:7141", source="MONDO:exact-label-match"}
xref: ONCOTREE:PRSCC {source="MONDO:equivalentTo"}
xref: SCTID:396198006 {source="MONDO:equivalentTo", source="DOID:7141"}
xref: UMLS:C1300585 {source="MEDGEN:266251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="DOID:7141/inferred", source="MONDO:Redundant", source="NCIT:C6766"} ! small cell carcinoma
is_a: MONDO:0002477 {source="MONDO:Redundant", source="NCIT:C6766"} ! prostate neuroendocrine neoplasm
is_a: MONDO:0005159 {source="DOID:7141", source="EFO:1000499", source="MONDO:Redundant", source="NCIT:C6766/inferred"} ! prostate carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0006391
name: pyloric gland adenoma
def: "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." [NCIT:C43526]
subset: otar {source="MONDO:OTAR"}
synonym: "pyloric gastric gland adenoma" EXACT [MONDO:patterns/location]
synonym: "pyloric gland adenoma" EXACT [NCIT:C43526]
xref: EFO:1000501 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1771507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43526 {source="MONDO:equivalentTo", source="EFO:1000501"}
xref: UMLS:C5421225 {source="MEDGEN:1771507", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006221 {source="MONDO:Redundant", source="NCIT:C43526/inferred"} ! gastric adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0008861 ! pyloric gastric gland

[Term]
id: MONDO:0006392
name: rectal hyperplastic polyp
def: "A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperplastic polyp of rectum" EXACT [NCIT:C5619]
synonym: "hyperplastic polyp of the rectum" EXACT [NCIT:C5619]
synonym: "rectal Hp" EXACT [NCIT:C5619]
synonym: "rectal metaplastic polyp" EXACT [NCIT:C5619]
synonym: "rectal MP" EXACT [NCIT:C5619]
xref: EFO:1000502 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5619 {source="MONDO:equivalentTo", source="EFO:1000502"}
xref: UMLS:C1335679 {source="MEDGEN:277574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="EFO:1000502", source="MONDO:Redundant", source="NCIT:C5619/inferred"} ! polyp
is_a: MONDO:0021398 {source="MONDO:Redundant", source="NCIT:C5619"} ! polyp of rectum
relationship: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0006393
name: rectal traditional serrated adenoma
def: "An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." [NCIT:C96463]
subset: otar {source="MONDO:OTAR"}
synonym: "rectal serrated adenoma" EXACT [NCIT:C96463]
synonym: "rectal serrated adenoma type II" EXACT [NCIT:C96463]
synonym: "rectal traditional serrated adenoma" EXACT [NCIT:C96463]
synonym: "rectal TSA" EXACT [NCIT:C96463]
xref: EFO:1000503 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:474423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96463 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000503"}
xref: UMLS:C3272790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474423"}
is_a: MONDO:0000530 {source="NCIT:C96463"} ! rectum adenoma
relationship: disease_has_location UBERON:0001052 {source="NCIT:C96463"} ! rectum

[Term]
id: MONDO:0006394
name: rectal tubular adenoma
def: "A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C96477]
subset: otar {source="MONDO:OTAR"}
synonym: "rectal tubular adenoma" EXACT [NCIT:C96477]
xref: EFO:1000504 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:474437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96477 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000504"}
xref: UMLS:C3272804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474437"}
is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C96477"} ! rectum adenoma
is_a: MONDO:0005484 {source="EFO:1000504", source="MONDO:Redundant", source="NCIT:C96477/inferred"} ! colorectal adenoma
intersection_of: MONDO:0024660 ! tubular adenoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0006395
name: rectal tubulovillous adenoma
def: "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C5620]
subset: otar {source="MONDO:OTAR"}
synonym: "rectal tubulovillous adenoma" EXACT [NCIT:C5620]
synonym: "rectal Villotubular adenoma" EXACT [NCIT:C5620]
synonym: "tubulovillous adenoma of rectum" EXACT [NCIT:C5620]
synonym: "tubulovillous adenoma of the rectum" EXACT [NCIT:C5620]
synonym: "Villotubular adenoma of rectum" EXACT [NCIT:C5620]
synonym: "Villotubular adenoma of the rectum" EXACT [NCIT:C5620]
xref: EFO:1000505 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5620 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000505"}
xref: SCTID:448428002 {source="MONDO:equivalentTo"}
xref: UMLS:C1335691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277578"}
is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C5620"} ! rectum adenoma
is_a: MONDO:0005484 {source="EFO:1000505", source="MONDO:Redundant", source="NCIT:C5620/inferred"} ! colorectal adenoma
is_a: MONDO:0024661 {source="NCIT:C5620/inferred"} ! tubulovillous adenoma
relationship: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0006396
name: rectal villous adenoma
def: "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C4919]
subset: otar {source="MONDO:OTAR"}
synonym: "rectal villous adenoma" EXACT [NCIT:C4919]
synonym: "rectum villous adenoma" EXACT [MONDO:patterns/location]
synonym: "villous adenoma of rectum" EXACT [NCIT:C4919]
synonym: "villous adenoma of the rectum" EXACT [NCIT:C4919]
xref: EFO:1000506 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:152675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4919 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000506"}
xref: SCTID:312823001 {source="MONDO:equivalentTo"}
xref: UMLS:C0730199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152675"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C4919/inferred"} ! villous adenoma
is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C4919"} ! rectum adenoma
is_a: MONDO:0005484 {source="EFO:1000506", source="MONDO:Redundant", source="NCIT:C4919/inferred"} ! colorectal adenoma
intersection_of: MONDO:0000502 ! villous adenoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0006397
name: renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions
def: "A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns." [NCIT:C27891]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions" EXACT [NCIT:C27891]
synonym: "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" EXACT [NCIT:C27891]
synonym: "TFE3-Rearranged renal cell carcinoma" EXACT [NCIT:C27891]
synonym: "translocation-associated renal cell carcinoma" RELATED [ONCOTREE:TRCC]
synonym: "tRCC" EXACT [NCIT:C27891]
synonym: "Xp11.2 translocation-related renal cell carcinoma" EXACT [NCIT:C27891]
xref: DOID:0081415 {source="MONDO:equivalentTo"}
xref: EFO:1000508 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:0000/0 {source="NCIT:C27891"}
xref: MEDGEN:235005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27891 {source="EFO:1000508", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:TRCC {source="MONDO:equivalentTo"}
xref: UMLS:C1337036 {source="MONDO:equivalentTo", source="MEDGEN:235005", source="MONDO:MEDGEN"}
is_a: MONDO:0005086 {source="EFO:1000508", source="MONDO:0006397/inferred", source="MONDO:Redundant", source="ONCOTREE:TRCC/inferred"} ! renal cell carcinoma
is_a: MONDO:0005549 {source="NCIT:C27891"} ! renal cell adenocarcinoma

[Term]
id: MONDO:0006398
name: retroperitoneal inflammatory myofibroblastic tumor
def: "A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C39741]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "retroperitoneal inflammatory myofibroblastic tumor" EXACT [NCIT:C39741]
synonym: "retroperitoneal space inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location]
synonym: "retroperitoneal space inflammatory myofibroblastic tumour" EXACT OMO:0003005 []
xref: EFO:1000510 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:271681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39741 {source="MONDO:equivalentTo", source="EFO:1000510", source="MONDO:exact-label-match"}
xref: UMLS:C1514921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271681"}
is_a: MONDO:0005070 {source="EFO:1000510", source="MONDO:Redundant", source="NCIT:C39741/inferred"} ! neoplasm
is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C39741"} ! inflammatory myofibroblastic tumor
intersection_of: MONDO:0015798 ! inflammatory myofibroblastic tumor
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space

[Term]
id: MONDO:0006399
name: obsolete rhabdoid tumor of the kidney
is_obsolete: true
replaced_by: MONDO:0002729

[Term]
id: MONDO:0006400
name: salivary gland acinic cell carcinoma
def: "A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acinic cell carcinoma of salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell carcinoma of the salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell neoplasm of salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell neoplasm of the salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell tumor of salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell tumor of the salivary gland" EXACT [NCIT:C8013]
synonym: "acinic cell tumour of salivary gland" EXACT OMO:0003005 []
synonym: "acinic cell tumour of the salivary gland" EXACT OMO:0003005 []
synonym: "salivary gland acinic cell cancer" EXACT [NCIT:C8013]
synonym: "salivary gland acinic cell neoplasm" EXACT [NCIT:C8013]
synonym: "salivary gland acinic cell tumor" EXACT [NCIT:C8013]
synonym: "salivary gland acinic cell tumour" EXACT OMO:0003005 []
xref: EFO:1000513 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8013 {source="MONDO:equivalentTo", source="EFO:1000513"}
xref: UMLS:C0279738 {source="MEDGEN:79030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004965 {source="MONDO:Redundant", source="NCIT:C8013"} ! acinar cell carcinoma
is_a: MONDO:0004970 {source="EFO:1000513", source="MONDO:0006400/inferred", source="MONDO:Redundant", source="NCIT:C8013/inferred"} ! adenocarcinoma
relationship: disease_has_location CL:0000622 {source="EFO:0000784"} ! acinar cell

[Term]
id: MONDO:0006401
name: salivary gland adenosquamous carcinoma
def: "A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." [NCIT:C35737]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "saliva-secreting gland adenosquamous carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland adenosquamous carcinoma" EXACT [NCIT:C35737]
xref: MEDGEN:277627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35737 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000514"}
xref: UMLS:C1335894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277627"}
is_a: MONDO:0000521 {source="MONDO:Entailed", source="NCIT:C35737"} ! salivary gland carcinoma
is_a: MONDO:0004993 {source="EFO:1000514", source="MONDO:0006401/inferred", source="MONDO:Redundant", source="NCIT:C35737/inferred"} ! carcinoma
is_a: MONDO:0006074 {source="MONDO:Redundant", source="NCIT:C35737"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0006402
name: salivary gland basal cell adenocarcinoma
def: "A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." [NCIT:C3678]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basal cell adenocarcinoma" EXACT [NCIT:C3678]
synonym: "basal cell adenocarcinoma of salivary gland" EXACT [NCIT:C3678]
synonym: "basal cell adenocarcinoma of the salivary gland" EXACT [NCIT:C3678]
synonym: "saliva-secreting gland skin basal cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland basal cell adenocarcinoma" EXACT [NCIT:C3678]
synonym: "skin basal cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern]
xref: EFO:1000515 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8147/3 {source="NCIT:C3678"}
xref: MEDGEN:412203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3678 {source="MONDO:equivalentTo", source="EFO:1000515"}
xref: UMLS:C2243086 {source="MEDGEN:412203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C3678/inferred"} ! salivary gland carcinoma
is_a: MONDO:0004970 {source="EFO:1000515", source="NCIT:C3678/inferred"} ! adenocarcinoma
is_a: MONDO:0005341 {source="EFO:1000515", source="MONDO:Redundant"} ! skin basal cell carcinoma
intersection_of: MONDO:0005341 ! skin basal cell carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland
relationship: disease_has_location CL:0000646 {source="EFO:0000784"} ! basal cell

[Term]
id: MONDO:0006403
name: salivary gland carcinoma ex pleomorphic adenoma
def: "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C40410]
comment: Editor note: DO class placed here as it denotes a salivary gland specific form
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma ex pleomorphic adenoma" RELATED EXCLUDE [DOID:297]
synonym: "carcinoma in pleomorphic adenoma" RELATED EXCLUDE [DOID:297]
synonym: "pleomorphic adenoma carcinoma" RELATED [DOID:297]
synonym: "saliva-secreting gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland carcinoma ex pleomorphic adenoma" EXACT [NCIT:C40410]
xref: DOID:297 {source="MONDO:equivalentTo"}
xref: EFO:1000516 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:274190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40410 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000516"}
xref: UMLS:C1519172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274190"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C40410"} ! salivary gland carcinoma
is_a: MONDO:0002472 {source="MONDO:Redundant", source="NCIT:C40410"} ! carcinoma ex pleomorphic adenoma
intersection_of: MONDO:0002472 ! carcinoma ex pleomorphic adenoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0006404
name: salivary gland large cell carcinoma
def: "A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass." [NCIT:C35735]
subset: otar {source="MONDO:OTAR"}
synonym: "large cell salivary gland carcinoma" EXACT [NCIT:C35735]
synonym: "large cell undifferentiated salivary gland carcinoma" EXACT [NCIT:C35735]
synonym: "saliva-secreting gland large cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland large cell carcinoma" EXACT [NCIT:C35735]
xref: EFO:1000517 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:810975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35735 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000517"}
xref: UMLS:C2111671 {source="MEDGEN:810975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C35735/inferred"} ! salivary gland carcinoma
is_a: MONDO:0005232 {source="MONDO:Redundant", source="NCIT:C35735"} ! large cell carcinoma
is_a: MONDO:0005617 {source="EFO:1000517", source="NCIT:C35735/inferred"} ! undifferentiated carcinoma
intersection_of: MONDO:0005232 ! large cell carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0006405
name: salivary gland small cell carcinoma
def: "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." [NCIT:C35703]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic small cell carcinoma of salivary gland" EXACT [NCIT:C35703]
synonym: "anaplastic small cell carcinoma of the salivary gland" EXACT [NCIT:C35703]
synonym: "neuroendocrine carcinoma of salivary gland" EXACT [NCIT:C35703]
synonym: "neuroendocrine carcinoma of the salivary gland" EXACT [NCIT:C35703]
synonym: "saliva-secreting gland small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland anaplastic small cell carcinoma" EXACT [NCIT:C35703]
synonym: "salivary gland neuroendocrine carcinoma" RELATED [NCIT:C35703]
synonym: "salivary gland small cell carcinoma" EXACT [NCIT:C35703]
synonym: "small cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern]
synonym: "small cell salivary gland carcinoma" EXACT [NCIT:C35703]
xref: EFO:1000519 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35703 {source="EFO:1000519", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1335982 {source="MEDGEN:234786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="MONDO:Redundant", source="NCIT:C35703"} ! small cell carcinoma
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C35703"} ! salivary gland carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0006406
name: sarcomatoid carcinoma
def: "A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." [NCIT:C27004]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma, spindle cell, malignant" EXACT [NCIT:C27004]
synonym: "pseudosarcomatous carcinoma" EXACT [NCIT:C27004]
synonym: "sarcomatoid carcinoma" EXACT [DOID:4015, NCIT:C27004]
synonym: "spindle cell carcinoma" EXACT [MONDO:0002838, NCIT:C27004]
synonym: "spindle cell carcinoma (morphologic abnormality)" EXACT [DOID:4015]
xref: DOID:4015 {source="MONDO:equivalentTo"}
xref: EFO:1000520 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8032/3 {source="NCIT:C27004"}
xref: ICDO:8033/3 {source="NCIT:C27004"}
xref: MEDGEN:60009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002277 {source="DOID:4015"}
xref: NCIT:C27004 {source="DOID:4015", source="EFO:1000520", source="MONDO:equivalentTo"}
xref: SCTID:23109009 {source="DOID:4015"}
xref: SCTID:65692009 {source="DOID:4015"}
xref: UMLS:C0205697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60009"}
is_a: MONDO:0004993 {source="DOID:4015/inferred", source="EFO:1000520", source="NCIT:C27004"} ! carcinoma
is_a: MONDO:0020633 {source="NCIT:C27004"} ! anaplastic cancer
intersection_of: MONDO:0004993 {source="NCIT:C27004"} ! carcinoma
intersection_of: MONDO:0020633 {source="NCIT:C27004"} ! anaplastic cancer
intersection_of: disease_has_feature NCIT:C37109 {source="NCIT:C27004"} ! Malignant Epithelial Spindle Cell
relationship: excluded_subClassOf MONDO:0005096 {source="DOID:4015", source="https://orcid.org/0000-0001-5208-3432"} ! squamous cell carcinoma

[Term]
id: MONDO:0006407
name: sarcomatoid mesothelioma
def: "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." [NCIT:C45655]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant fibrous mesothelioma" EXACT [DOID:4488, NCIT:C6747]
synonym: "malignant fibrous mesothelioma (morphologic abnormality)" EXACT [DOID:4488]
synonym: "sarcomatoid mesothelioma" EXACT [NCIT:C45655]
synonym: "sarcomatoid mesothelioma (morphologic abnormality)" EXACT [DOID:4488]
synonym: "spindled mesothelioma" EXACT [DOID:4488]
xref: DOID:4488 {source="MONDO:equivalentTo"}
xref: EFO:1000521 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:137774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45655 {source="DOID:4488", source="MONDO:equivalentTo", source="EFO:1000521", source="MONDO:exact-label-match"}
xref: SCTID:209241006 {source="DOID:4488"}
xref: SCTID:399477001 {source="DOID:4488"}
xref: SCTID:54443001 {source="DOID:4488"}
xref: UMLS:C0334513 {source="MEDGEN:137774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006292 {source="DOID:4488", source="NCIT:C45655/inferred"} ! malignant mesothelioma

[Term]
id: MONDO:0006408
name: sex hormone-producing adrenal cortex adenoma
def: "A rare adenoma of the adrenal cortex that produces androgens or estrogens." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sex hormone producing adrenal cortex adenoma" EXACT [NCIT:C48452]
synonym: "Sex hormone producing adrenal cortical adenoma" EXACT [NCIT:C48452]
xref: EFO:1000523 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:328025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C48452 {source="MONDO:equivalentTo", source="EFO:1000523"}
xref: UMLS:C1710067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328025"}
is_a: MONDO:0003924 {source="NCIT:C48452"} ! adrenal cortex adenoma
is_a: MONDO:0004972 {source="EFO:1000523", source="MONDO:Redundant", source="NCIT:C48452/inferred"} ! adenoma

[Term]
id: MONDO:0006409
name: signet ring cell gastric adenocarcinoma
def: "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." [NCIT:C5250]
subset: otar {source="MONDO:OTAR"}
synonym: "gastric signet Ring cell adenocarcinoma" EXACT [NCIT:C5250]
synonym: "gastric signet ring cell adenocarcinoma" EXACT [MONDO:0004437]
synonym: "signet Ring cell adenocarcinoma of stomach" EXACT [NCIT:C5250]
synonym: "signet Ring cell adenocarcinoma of the stomach" EXACT [DOID:8025, NCIT:C5250]
synonym: "signet ring cell carcinoma of the stomach" RELATED [ONCOTREE:SSRCC]
synonym: "signet ring cell gastric adenocarcinoma" EXACT [NCIT:C5250]
synonym: "signet Ring cell stomach adenocarcinoma" EXACT [NCIT:C5250]
xref: DOID:8025 {source="MONDO:equivalentTo"}
xref: EFO:1000524 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5250 {source="MONDO:equivalentTo", source="EFO:1000524", source="DOID:8025"}
xref: ONCOTREE:SSRCC {source="MONDO:equivalentTo"}
xref: UMLS:C1335965 {source="MEDGEN:234782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005036 {source="DOID:8025/inferred", source="EFO:1000524", source="MONDO:Redundant", source="NCIT:C5250/inferred"} ! gastric adenocarcinoma
is_a: MONDO:0005092 {source="EFO:1000524", source="NCIT:C5250"} ! signet ring cell carcinoma
relationship: excluded_subClassOf MONDO:0005017 {source="DOID:8025", source="https://orcid.org/0000-0001-5208-3432"} ! diffuse gastric adenocarcinoma

[Term]
id: MONDO:0006410
name: simple endometrial hyperplasia
def: "A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000525 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:621.31 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:96819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35463 {source="MONDO:equivalentTo", source="EFO:1000525"}
xref: SCTID:198324001 {source="MONDO:equivalentTo"}
xref: UMLS:C0456483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96819"}
is_a: MONDO:0005043 {source="EFO:1000525", source="NCIT:C35463/inferred"} ! hyperplasia

[Term]
id: MONDO:0006411
name: sinonasal undifferentiated carcinoma
def: "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." [NCIT:C54294]
subset: otar {source="MONDO:OTAR"}
synonym: "highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses" RELATED [GARD:0009249]
synonym: "Sinonasal anaplastic carcinoma" EXACT [NCIT:C54294]
synonym: "sinonasal undifferentiated carcinoma" EXACT [NCIT:C54294]
synonym: "SNUC" RELATED ABBREVIATION [GARD:0009249, ONCOTREE:SNUC]
synonym: "undifferentiated Sinonasal cancer" EXACT [NCIT:C54294]
xref: DOID:0080799 {source="MONDO:equivalentTo"}
xref: EFO:1000527 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:313704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537344 {source="MONDO:equivalentTo"}
xref: NCIT:C54294 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000527"}
xref: ONCOTREE:SNUC {source="MONDO:equivalentTo"}
xref: SCTID:697993003 {source="MONDO:equivalentTo"}
xref: UMLS:C1710096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313704"}
is_a: MONDO:0005617 {source="EFO:1000527", source="NCIT:C54294"} ! undifferentiated carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9249/sinonasal-undifferentiated-carcinoma" xsd:anyURI {source="GARD:0009249"}

[Term]
id: MONDO:0006412
name: sinus histiocytosis with massive lymphadenopathy
def: "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously." [NCIT:P378]
subset: gard_rare {source="GARD:7588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1676"}
subset: ordo_disorder {source="Orphanet:158014"}
subset: orphanet_rare {source="Orphanet:158014"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Destombes-RosaC/-Dorfman disease" EXACT [Orphanet:158014]
synonym: "Destombes-Rosaï-Dorfman disease" EXACT [Orphanet:158014]
synonym: "RDD" EXACT ABBREVIATION [GARD:0007588]
synonym: "RosaC/-Dorfman-Destombes disease" EXACT [Orphanet:158014]
synonym: "Rosai-Dorfman Disease" EXACT [NORD:1676]
synonym: "Rosai-Dorfman disease" EXACT [MONDO:0044354, NCIT:C36075, Orphanet:158014]
synonym: "Rosaï-Dorfman-Destombes disease" EXACT [Orphanet:158014]
synonym: "SHML" EXACT ABBREVIATION [Orphanet:158014]
synonym: "sinus histiocytosis with massive lymphadenopathy" EXACT [Orphanet:158014]
xref: GARD:7588 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158014"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063397 {source="Orphanet:158014"}
xref: MEDGEN:9266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015618 {source="MONDO:equivalentTo"}
xref: NANDO:2200039 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C36075 {source="ONCOTREE:RDD", source="MONDO:equivalentTo", source="EFO:1000528"}
xref: NORD:1676 {source="MONDO:NORD"}
xref: ONCOTREE:RDD {source="MONDO:equivalentTo"}
xref: Orphanet:158014 {source="MONDO:equivalentTo"}
xref: SCTID:34287003 {source="MONDO:equivalentTo"}
xref: UMLS:C0019625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9266"}
is_a: MONDO:0005833 {source="EFO:1000528", source="MESH:D015618/inferred"} ! lymphatic system disorder
is_a: MONDO:0015531 {source="Orphanet:158014"} ! non-Langerhans cell histiocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4236" xsd:anyURI

[Term]
id: MONDO:0006414
name: skin sarcoma
def: "A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." [NCIT:C5585]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous sarcoma" EXACT [DOID:2687, NCIT:C5585]
synonym: "sarcoma of skin" EXACT [NCIT:C5585]
synonym: "sarcoma of the skin" EXACT [NCIT:C5585]
synonym: "sarcoma of zone of skin" EXACT [MONDO:patterns/sarcoma]
synonym: "skin sarcoma" EXACT [NCIT:C5585]
synonym: "zone of skin sarcoma" EXACT [MONDO:patterns/location]
xref: DOID:2687 {source="MONDO:equivalentTo"}
xref: EFO:1000531 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:208989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5585 {source="EFO:1000531", source="MONDO:equivalentTo", source="DOID:2687", source="MONDO:exact-label-match"}
xref: UMLS:C0856900 {source="MEDGEN:208989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002898 {source="DOID:2687", source="MONDO:Redundant", source="NCIT:C5585/inferred"} ! skin cancer
is_a: MONDO:0003363 {source="NCIT:C5585"} ! malignant dermis tumor
is_a: MONDO:0005089 {source="DOID:2687", source="EFO:1000531", source="MONDO:Redundant", source="NCIT:C5585/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C5585"} ! soft tissue sarcoma
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0006415
name: obsolete small intestinal adenocarcinoma
is_obsolete: true
replaced_by: MONDO:0003198

[Term]
id: MONDO:0006416
name: small intestinal Burkitt lymphoma
def: "A Burkitt lymphoma that arises from the small intestine." [NCIT:C27409]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Burkitt lymphoma of small intestine" EXACT []
synonym: "Burkitts lymphoma of small intestine" EXACT [MONDO:design_pattern]
synonym: "primary small intestinal Burkitt's lymphoma" EXACT [NCIT:C27409]
synonym: "small intestinal Burkitt lymphoma" EXACT [NCIT:C27409]
synonym: "small intestinal Burkitt's lymphoma" EXACT [NCIT:C27409]
synonym: "small intestine Burkitt lymphoma" EXACT [MONDO:patterns/location, NCIT:C27409]
synonym: "small intestine Burkitt's lymphoma" EXACT [NCIT:C27409]
synonym: "small intestine Burkitts lymphoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:277650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27409 {source="MONDO:equivalentTo", source="EFO:1000533", source="MONDO:exact-label-match"}
xref: UMLS:C1335991 {source="MEDGEN:277650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001852 {source="MONDO:Redundant", source="NCIT:C27409/inferred"} ! small intestine lymphoma
is_a: MONDO:0007243 {source="EFO:1000533", source="MONDO:Redundant", source="NCIT:C27409"} ! Burkitt lymphoma
intersection_of: MONDO:0007243 ! Burkitt lymphoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0006417
name: small intestinal diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that arises from the small intestine." [NCIT:C96055]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse large B-cell lymphoma of small intestine" EXACT [MONDO:design_pattern]
synonym: "small intestinal diffuse large B-cell lymphoma" EXACT [NCIT:C96055]
synonym: "small intestine diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location]
xref: EFO:1000534 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:474155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96055 {source="MONDO:equivalentTo", source="EFO:1000534", source="MONDO:exact-label-match"}
xref: UMLS:C3272522 {source="MEDGEN:474155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001852 {source="MONDO:Redundant", source="NCIT:C96055/inferred"} ! small intestine lymphoma
is_a: MONDO:0018905 {source="EFO:1000534", source="MONDO:Redundant", source="NCIT:C96055"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0006418
name: small intestinal enteropathy-associated T-cell lymphoma
def: "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "enteropathy-associated T-cell lymphoma of small intestine" EXACT [MONDO:design_pattern]
synonym: "small intestinal EATL" EXACT [NCIT:C39610]
synonym: "small intestinal enteropathy-type T-cell lymphoma" EXACT [NCIT:C39610]
synonym: "small intestine enteropathy-associated T-cell lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1000535 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:275445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39610 {source="MONDO:equivalentTo", source="EFO:1000535"}
xref: UMLS:C1519371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275445"}
is_a: MONDO:0005062 {source="EFO:1000535", source="MONDO:Redundant", source="NCIT:C39610/inferred"} ! lymphoma
is_a: MONDO:0019473 {source="MONDO:Redundant", source="NCIT:C39610"} ! enteropathy-associated T-cell lymphoma
intersection_of: MONDO:0019473 ! enteropathy-associated T-cell lymphoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine
relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell

[Term]
id: MONDO:0006419
name: small intestinal intraepithelial neoplasia
def: "A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." [NCIT:C27462]
synonym: "small intestinal dysplasia" EXACT [NCIT:C27462]
synonym: "small intestinal intraepithelial neoplasia" EXACT [NCIT:C27462]
xref: MEDGEN:236822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27462 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000536"}
xref: UMLS:C1335999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236822"}
is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C27462"} ! small intestine neoplasm
is_a: MONDO:0005335 {source="EFO:1000536"} ! colorectal neoplasm
intersection_of: MONDO:0024474 ! intraepithelial neoplasia
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0006420
name: small intestinal mucosa-associated lymphoid tissue lymphoma
def: "A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." [NCIT:C5635]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MALT lymphoma of small bowel" EXACT [NCIT:C5635]
synonym: "MALT lymphoma of small intestine" EXACT [NCIT:C5635]
synonym: "MALT lymphoma of the small bowel" EXACT [NCIT:C5635]
synonym: "MALT lymphoma of the small intestine" EXACT [NCIT:C5635]
synonym: "MALToma of small bowel" EXACT [NCIT:C5635]
synonym: "MALToma of small intestine" EXACT [NCIT:C5635]
synonym: "MALToma of the small bowel" EXACT [NCIT:C5635]
synonym: "MALToma of the small intestine" EXACT [NCIT:C5635]
synonym: "mucosa-associated lymphoid tissue lymphoma of small bowel" EXACT [NCIT:C5635]
synonym: "mucosa-associated lymphoid tissue lymphoma of small intestine" EXACT [NCIT:C5635]
synonym: "mucosa-associated lymphoid tissue lymphoma of the small bowel" EXACT [NCIT:C5635]
synonym: "mucosa-associated lymphoid tissue lymphoma of the small intestine" EXACT [NCIT:C5635]
synonym: "small bowel MALT lymphoma" EXACT [NCIT:C5635]
synonym: "small bowel MALToma" EXACT [NCIT:C5635]
synonym: "small bowel mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635]
synonym: "small intestinal mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635]
synonym: "small intestine MALT lymphoma" EXACT [MONDO:patterns/location, NCIT:C5635]
synonym: "small intestine MALToma" EXACT [NCIT:C5635]
synonym: "small intestine mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C5635]
xref: MEDGEN:233452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5635 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000537"}
xref: UMLS:C1336004 {source="MEDGEN:233452", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="EFO:1000537", source="MONDO:Redundant", source="NCIT:C5635/inferred"} ! lymphoma
is_a: MONDO:0007650 {source="MONDO:Redundant", source="NCIT:C5635"} ! MALT lymphoma
intersection_of: MONDO:0007650 ! MALT lymphoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0006421
name: small intestinal tubular adenoma
def: "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C43552]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000538 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:328036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43552 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000538"}
xref: UMLS:C1710112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328036"}
is_a: MONDO:0004972 {source="EFO:1000538", source="NCIT:C43552/inferred"} ! adenoma
intersection_of: MONDO:0024660 ! tubular adenoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0006422
name: small intestinal tubulovillous adenoma
def: "A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C43553]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000539 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:354182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43553 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000539"}
xref: UMLS:C1710113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354182"}
is_a: MONDO:0004972 {source="EFO:1000539", source="NCIT:C43553/inferred"} ! adenoma
is_a: MONDO:0024661 {source="MONDO:Redundant", source="NCIT:C43553"} ! tubulovillous adenoma
intersection_of: MONDO:0024661 ! tubulovillous adenoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0006423
name: soft tissue chondroma
def: "A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." [NCIT:C9482]
subset: otar {source="MONDO:OTAR"}
synonym: "chondroma of soft parts" EXACT [NCIT:C9482]
synonym: "extraskeletal chondroma" EXACT [NCIT:C9482]
synonym: "extraskeletal osteochondroma" EXACT [NCIT:C9482]
synonym: "soft tissue chondroma" EXACT [NCIT:C9482]
xref: DOID:3814 {source="MONDO:equivalentTo"}
xref: EFO:1000540 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:266157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9482 {source="EFO:1000540", source="MONDO:equivalentTo"}
xref: SCTID:404078000 {source="MONDO:equivalentTo"}
xref: UMLS:C1275277 {source="MONDO:equivalentTo", source="MEDGEN:266157", source="MONDO:MEDGEN"}
is_a: MONDO:0000654 {source="DOID:3814", source="NCIT:C9482/inferred"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0002360 {source="NCIT:C9482"} ! chondroma
is_a: MONDO:0005070 {source="DOID:3814/inferred", source="EFO:1000540", source="MONDO:Redundant", source="NCIT:C9482/inferred"} ! neoplasm
is_a: MONDO:0044335 {source="NCIT:C9482/inferred"} ! benign soft tissue neoplasm

[Term]
id: MONDO:0006424
name: soft tissue neoplasm
def: "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." [NCIT:C3377]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of soft tissue" EXACT [NCIT:C3377]
synonym: "neoplasm of the soft tissue" EXACT [NCIT:C3377]
synonym: "soft tissue neoplasm" EXACT [NCIT:C3377]
synonym: "soft tissue neoplasm, NOS" RELATED EXCLUDE [NCIT:C3377]
synonym: "soft tissue tumor" EXACT [NCIT:C3377]
synonym: "soft tissue tumors" EXACT [NCIT:C3377]
synonym: "soft tissue tumour" EXACT OMO:0003005 []
synonym: "soft tissue tumours" EXACT OMO:0003005 []
synonym: "SOFTTISSUE" RELATED ABBREVIATION [ONCOTREE:SOFTTISSUE]
synonym: "tumor of soft tissue" EXACT [NCIT:C3377]
synonym: "tumor of the soft tissue" EXACT [NCIT:C3377]
synonym: "tumour of soft tissue" EXACT OMO:0003005 []
synonym: "tumour of the soft tissue" EXACT OMO:0003005 []
xref: EFO:1000541 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:11495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12471 {source="ONCOTREE:SOFTTISSUE"}
xref: NCIT:C3377 {source="MONDO:equivalentTo", source="EFO:1000541"}
xref: ONCOTREE:SOFTTISSUE {source="MONDO:equivalentTo"}
xref: SCTID:387837005 {source="MONDO:equivalentTo"}
xref: UMLS:C0037579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11495"}
is_a: MONDO:0005070 {source="EFO:1000541", source="NCIT:C3377/inferred"} ! neoplasm
is_a: MONDO:0044334 {source="NCIT:C3377"} ! connective and soft tissue neoplasm

[Term]
id: MONDO:0006425
name: obsolete spinal chordoma
is_obsolete: true
replaced_by: MONDO:0002894

[Term]
id: MONDO:0006426
name: spinal cord primitive neuroectodermal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord." [NCIT:C5406]
subset: otar {source="MONDO:OTAR"}
synonym: "primitive neuroectodermal neoplasm of spinal cord" EXACT [NCIT:C5406]
synonym: "primitive neuroectodermal neoplasm of the spinal cord" EXACT [NCIT:C5406]
synonym: "primitive neuroectodermal tumor of spinal cord" EXACT [NCIT:C5406]
synonym: "primitive neuroectodermal tumor of the spinal cord" EXACT [NCIT:C5406]
synonym: "primitive neuroectodermal tumour of spinal cord" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of the spinal cord" EXACT OMO:0003005 []
synonym: "spinal cord embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5406]
synonym: "spinal cord embryonal tumor, not otherwise specified" RELATED EXCLUDE [MONDO:0004025, NCIT:C5406]
synonym: "spinal cord PNET" EXACT [DOID:6872, NCIT:C5406]
synonym: "spinal cord primitive neuroectodermal neoplasm" EXACT [NCIT:C5406]
synonym: "spinal cord primitive neuroectodermal tumor" EXACT [NCIT:C5406]
xref: DOID:6872 {source="MONDO:equivalentTo"}
xref: EFO:1000545 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5406 {source="DOID:6872", source="MONDO:equivalentTo", source="EFO:1000545"}
xref: UMLS:C1336048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234805"}
is_a: MONDO:0000640 {source="DOID:6872", source="MONDO:Redundant", source="NCIT:C5406"} ! central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0003544 {source="DOID:6872", source="MONDO:Redundant", source="NCIT:C5406"} ! spinal cord cancer
is_a: MONDO:0005462 {source="DOID:6872/inferred", source="EFO:1000545", source="MONDO:indirect"} ! primitive neuroectodermal tumor
relationship: disease_has_location UBERON:0002240 {source="NCIT:C5406"} ! spinal cord

[Term]
id: MONDO:0006427
name: spindle cell melanoma
def: "A melanoma characterized by the presence of malignant spindle-shaped melanocytes." [NCIT:C4237]
subset: otar {source="MONDO:OTAR"}
synonym: "desmoplastic melanoma" RELATED [DOID:3162]
synonym: "malignant spindle cell melanoma" EXACT [MONDO:0002530, NCIT:C4237]
synonym: "spindle cell malignant melanoma" EXACT [DOID:3162, NCIT:C4237]
synonym: "spindle cell melanoma" EXACT [DOID:3162, MTH:NOCODE, NCIT:C4237]
synonym: "spindle cell melanoma NOS (morphologic abnormality)" RELATED EXCLUDE [DOID:3162]
synonym: "spitzoid malignant melanoma" EXACT [DOID:3162]
xref: DOID:3162 {source="MONDO:equivalentTo"}
xref: EFO:1000546 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8772/3 {source="NCIT:C4237"}
xref: MEDGEN:83147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4237 {source="MONDO:equivalentTo", source="EFO:1000546", source="DOID:3162"}
xref: SCTID:189756002 {source="DOID:3162"}
xref: SCTID:403923002 {source="MONDO:equivalentTo", source="DOID:3162"}
xref: SCTID:68827007 {source="DOID:3162"}
xref: UMLS:C0334444 {source="MEDGEN:83147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="DOID:3162", source="NCIT:C4237"} ! melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell

[Term]
id: MONDO:0006428
name: splenic diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma occurring in the spleen." [NCIT:C7308]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "primary splenic diffuse large B-cell lymphoma" EXACT [NCIT:C7308]
synonym: "splenic diffuse large B-cell lymphoma" EXACT [NCIT:C7308]
xref: EFO:1000547 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:412154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7308 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000547"}
xref: UMLS:C2018774 {source="MEDGEN:412154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="EFO:1000547", source="MONDO:Redundant", source="NCIT:C7308/inferred"} ! lymphoma
is_a: MONDO:0018905 {source="NCIT:C7308"} ! diffuse large B-cell lymphoma
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0006429
name: splenic hodgkin lymphoma
def: "A rare Hodgkin lymphoma that arises from the spleen." [NCIT:C7295]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Hodgkin's disease of spleen" EXACT [NCIT:C7295]
synonym: "Hodgkin's disease of the spleen" EXACT [NCIT:C7295]
synonym: "Hodgkin's lymphoma of spleen" EXACT [NCIT:C7295]
synonym: "Hodgkin's lymphoma of the spleen" EXACT [NCIT:C7295]
synonym: "primary splenic Hodgkin's lymphoma" EXACT [NCIT:C7295]
synonym: "splenic Hodgkin's disease" EXACT [NCIT:C7295]
synonym: "splenic Hodgkin's lymphoma" EXACT [NCIT:C7295]
synonym: "splenic Hodgkins lymphoma" EXACT [NCIT:C7295]
xref: MEDGEN:56323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7295 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000548"}
xref: SCTID:93527005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56323"}
is_a: MONDO:0004952 {source="EFO:1000548", source="NCIT:C7295"} ! Hodgkins lymphoma

[Term]
id: MONDO:0006430
name: splenic mantle cell lymphoma
def: "A mantle cell lymphoma occurring in the spleen." [NCIT:C7306]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "splenic mantle cell lymphoma" EXACT [NCIT:C7306]
xref: EFO:1000549 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:384473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7306 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000549"}
xref: UMLS:C2018777 {source="MONDO:equivalentTo", source="MEDGEN:384473", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="EFO:1000549", source="EFO:1000549/inferred", source="MONDO:Redundant", source="NCIT:C7306/inferred"} ! lymphoma
is_a: MONDO:0018876 {source="NCIT:C7306"} ! mantle cell lymphoma

[Term]
id: MONDO:0006431
name: obsolete splenic marginal zone lymphoma
is_obsolete: true
replaced_by: MONDO:0019462

[Term]
id: MONDO:0006432
name: stromal predominant kidney Wilms tumor
def: "Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." [NCIT:C9148]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "stromal predominant kidney adenosarcoma" EXACT [NCIT:C9148]
synonym: "stromal predominant kidney Wilms tumor" EXACT [NCIT:C9148]
synonym: "stromal predominant kidney Wilms' tumor" EXACT [MONDO:0003324]
synonym: "stromal predominant kidney Wilms' tumour" EXACT OMO:0003005 []
synonym: "stromal predominant nephroblastoma" EXACT [NCIT:C9148]
synonym: "stromal predominant renal adenosarcoma" EXACT [NCIT:C9148]
synonym: "stromal predominant renal Wilm's tumor" EXACT [NCIT:C9148]
synonym: "stromal predominant renal Wilm's tumour" EXACT OMO:0003005 []
synonym: "stromal predominant renal Wilms tumor" EXACT [DOID:5191, NCIT:C9148]
synonym: "stromal predominant renal Wilms tumour" EXACT OMO:0003005 []
synonym: "stromal predominant renal Wilms' tumor" EXACT [NCIT:C9148]
synonym: "stromal predominant renal Wilms' tumour" EXACT OMO:0003005 []
synonym: "stromal predominant Wilms tumor" EXACT [NCIT:C9148]
synonym: "stromal predominant Wilms tumour" EXACT OMO:0003005 []
xref: DOID:5191 {source="MONDO:equivalentTo"}
xref: MEDGEN:83529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9148 {source="EFO:1000551", source="DOID:5191", source="MONDO:equivalentTo"}
xref: UMLS:C0279610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83529"}
is_a: MONDO:0019004 {source="DOID:5191", source="EFO:1000551", source="NCIT:C9148"} ! kidney Wilms tumor

[Term]
id: MONDO:0006433
name: obsolete subcutaneous panniculitis-like T-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0019475

[Term]
id: MONDO:0006434
name: obsolete Subependymoma
is_obsolete: true
replaced_by: MONDO:0007667

[Term]
id: MONDO:0006435
name: submandibular gland adenocarcinoma
def: "An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." [NCIT:C5940]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of submandibular gland" EXACT [NCIT:C5940]
synonym: "adenocarcinoma of the submandibular gland" EXACT [NCIT:C5940]
synonym: "submandibular gland adenocarcinoma" EXACT [NCIT:C5940]
xref: EFO:1000554 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5940 {source="MONDO:equivalentTo", source="EFO:1000554", source="MONDO:exact-label-match"}
xref: UMLS:C1336521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234370"}
is_a: MONDO:0004724 {source="NCIT:C5940"} ! submandibular gland cancer
is_a: MONDO:0004970 {source="EFO:1000554", source="NCIT:C5940/inferred"} ! adenocarcinoma

[Term]
id: MONDO:0006436
name: submandibular gland adenoid cystic carcinoma
def: "An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5935]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of submandibular gland" EXACT [NCIT:C5935]
synonym: "adenoid cystic carcinoma of the submandibular gland" EXACT [NCIT:C5935]
synonym: "submandibular gland adenoid cystic carcinoma" EXACT [NCIT:C5935]
xref: EFO:1000555 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:277773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5935 {source="MONDO:equivalentTo", source="EFO:1000555", source="MONDO:exact-label-match"}
xref: SCTID:423189008 {source="MONDO:equivalentTo"}
xref: UMLS:C1336522 {source="MONDO:equivalentTo", source="MEDGEN:277773", source="MONDO:MEDGEN"}
is_a: MONDO:0003175 {source="MONDO:Entailed", source="NCIT:C5935/inferred"} ! salivary gland adenoid cystic carcinoma
is_a: MONDO:0004724 {source="NCIT:C5935"} ! submandibular gland cancer
is_a: MONDO:0004971 {source="EFO:1000555", source="MONDO:Redundant", source="NCIT:C5935/inferred"} ! adenoid cystic carcinoma

[Term]
id: MONDO:0006437
name: obsolete superficial fibromatosis
is_obsolete: true
replaced_by: MONDO:0016037

[Term]
id: MONDO:0006438
name: synovial chondromatosis
def: "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common." [GARD:0006054]
subset: otar {source="MONDO:OTAR"}
synonym: "Henderson-Jones syndrome" EXACT [NCIT:C34467]
synonym: "Reichel's syndrome" EXACT [NCIT:C34467]
synonym: "synovial osteochondromatosis" RELATED [GARD:0006054]
xref: EFO:1000557 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:40275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015838 {source="MONDO:equivalentTo"}
xref: NCIT:C34467 {source="MONDO:equivalentTo", source="EFO:1000557"}
xref: UMLS:C0008476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40275"}
is_a: MONDO:0002081 {source="GARD:0006054", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disorder
is_a: MONDO:0044334 {source="NCIT:C3810", source="https://orcid.org/0000-0001-5208-3432"} ! connective and soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0005089 {source="EFO:1000557", source="https://orcid.org/0000-0001-5208-3432"} ! sarcoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis" xsd:anyURI {source="GARD:0006054"}

[Term]
id: MONDO:0006439
name: obsolete syringocystadenoma papilliferum
is_obsolete: true
replaced_by: MONDO:0019392

[Term]
id: MONDO:0006440
name: obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease
comment: This is a place-holder for Orphanet term ORDO_98849 which is not currently part of the rare genetic disorders imported from ORDO2 (as of January 2016). {source="EFO:1000559"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1270" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020332

[Term]
id: MONDO:0006441
name: obsolete T-cell prolymphocytic leukemia
is_obsolete: true
replaced_by: MONDO:0019468

[Term]
id: MONDO:0006442
name: tendon sheath fibroma
def: "A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." [NCIT:C6485]
subset: otar {source="MONDO:OTAR"}
synonym: "fibroma of tendon sheath" EXACT [NCIT:C6485]
synonym: "fibroma of the tendon sheath" EXACT [NCIT:C6485]
synonym: "tendon sheath fibroma" EXACT [MONDO:patterns/location, NCIT:C6485]
xref: EFO:1000561 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6485 {source="EFO:1000561", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:403992002 {source="MONDO:equivalentTo"}
xref: UMLS:C1275236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226901"}
is_a: MONDO:0005167 {source="EFO:1000561", source="MONDO:Redundant", source="NCIT:C6485"} ! fibroma
intersection_of: MONDO:0005167 ! fibroma
intersection_of: disease_has_location UBERON:0000304 ! tendon sheath

[Term]
id: MONDO:0006443
name: obsolete tenosynovial giant cell tumor
is_obsolete: true
replaced_by: MONDO:0002522

[Term]
id: MONDO:0006444
name: teratoma with malignant transformation
def: "A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous." [NCIT:C4289]
subset: gard_rare {source="GARD:10646", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dermoid cyst with malignant transformation" EXACT [NCIT:C4289]
synonym: "teratoma with malignant transformation" EXACT [NCIT:C4289]
synonym: "TMT" RELATED ABBREVIATION [ONCOTREE:TMT]
xref: DOID:0081246 {source="MONDO:equivalentTo"}
xref: EFO:1000563 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10646 {source="MONDO:GARD"}
xref: ICDO:9084/3 {source="NCIT:C4289"}
xref: MEDGEN:87256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200107 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4289 {source="MONDO:equivalentTo", source="EFO:1000563", source="MONDO:exact-label-match"}
xref: ONCOTREE:TMT {source="MONDO:equivalentTo"}
xref: UMLS:C0334523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87256"}
is_a: MONDO:0002601 {source="NCIT:C4289"} ! teratoma
is_a: MONDO:0005040 {source="EFO:1000563", source="MONDO:Redundant", source="NCIT:C4289/inferred"} ! germ cell tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation" xsd:anyURI {source="GARD:0010646"}

[Term]
id: MONDO:0006445
name: obsolete testicular choriocarcinoma
def: "OBSOLETE. A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." [EFO:1000564]
is_obsolete: true
replaced_by: MONDO:0003508

[Term]
id: MONDO:0006446
name: testicular embryonal carcinoma
def: "A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." [NCIT:C6341]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "embryonal carcinoma of testis" EXACT [DOID:5680, NCIT:C6341]
synonym: "embryonal carcinoma of the testis" EXACT [DOID:5680, NCIT:C6341]
synonym: "embryonal testis carcinoma" EXACT [MONDO:0003580]
synonym: "testicular embryonal carcinoma" EXACT [DOID:5680, NCIT:C6341]
synonym: "testis embryonal carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:5680 {source="MONDO:equivalentTo"}
xref: EFO:1000565 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:66771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6341 {source="MONDO:equivalentTo", source="EFO:1000565", source="DOID:5680"}
xref: UMLS:C0238448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66771"}
is_a: MONDO:0002874 {source="NCIT:C6341"} ! testicular pure germ cell tumor
is_a: MONDO:0003403 {source="NCIT:C6341"} ! testicular non-seminomatous germ cell cancer
is_a: MONDO:0003510 {source="MONDO:Redundant", source="NCIT:C6341/inferred"} ! malignant testicular germ cell tumor
is_a: MONDO:0005440 {source="DOID:5680", source="MONDO:Redundant", source="NCIT:C6341"} ! embryonal carcinoma
is_a: MONDO:0005564 {source="DOID:5680/inferred", source="EFO:1000565"} ! embryonal neoplasm
is_a: MONDO:0010108 {source="MONDO:Redundant", source="NCIT:C6341/inferred"} ! testicular germ cell tumor
intersection_of: MONDO:0005440 ! embryonal carcinoma
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0006447
name: testicular non-seminomatous germ cell tumor
def: "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." [NCIT:C9313]
subset: gard_rare {source="GARD:17561", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363494"}
subset: orphanet_rare {source="Orphanet:363494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-dysgerminomatous germ cell tumor of testis" EXACT [Orphanet:363494]
synonym: "non-dysgerminomatous germ cell tumour of testis" EXACT OMO:0003005 []
synonym: "non-seminomatous germ cell tumor of testis" EXACT [MONDO:0018195]
synonym: "non-seminomatous germ cell tumour of testis" EXACT OMO:0003005 []
synonym: "testicular germ cell tumor non-seminomatous" EXACT [MONDO:0002873, NCIT:C9313]
synonym: "testicular germ cell tumour non-seminomatous" EXACT OMO:0003005 []
synonym: "testicular non seminomatous germ cell tumor" EXACT [Orphanet:363494]
synonym: "testicular non seminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "testicular non-dysgerminomatous germ cell tumor" EXACT [Orphanet:363494]
synonym: "testicular non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "testicular non-seminomatous germ cell tumor" EXACT [NCIT:C9313]
xref: DOID:4086 {source="MONDO:equivalentTo"}
xref: EFO:1000570 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17561 {source="MONDO:GARD"}
xref: ICD10CM:C62.1 {source="Orphanet:363494", source="Orphanet:363494/ntbt"}
xref: ICDO:9065/3 {source="NCIT:C9313"}
xref: MEDGEN:890627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9313 {source="EFO:1000570", source="MONDO:equivalentTo"}
xref: Orphanet:363494 {source="MONDO:equivalentTo"}
xref: UMLS:C2057625 {source="MEDGEN:890627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005040 {source="DOID:4086/inferred", source="EFO:1000570", source="MONDO:Redundant", source="NCIT:C9313/inferred"} ! germ cell tumor
is_a: MONDO:0010108 {source="DOID:4086", source="NCIT:C9313", source="Orphanet:363494"} ! testicular germ cell tumor

[Term]
id: MONDO:0006448
name: obsolete testicular teratoma (disease)
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3286" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018193

[Term]
id: MONDO:0006449
name: obsolete testicular yolk sac tumor
is_obsolete: true
replaced_by: MONDO:0003402

[Term]
id: MONDO:0006450
name: therapy-related myeloid neoplasm
def: "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." [NCIT:C27912]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" EXACT [NCIT:C27912]
synonym: "therapy-related acute myeloid leukaemia and myelodysplastic syndrome" EXACT OMO:0003005 []
synonym: "therapy-related acute myeloid leukemia and myelodysplastic syndrome" EXACT [NCIT:C27912]
synonym: "therapy-related AML and MDS" EXACT [NCIT:C27912]
synonym: "therapy-related myeloid neoplasm" EXACT [NCIT:C27912]
synonym: "therapy-related myeloid neoplasms" RELATED [ONCOTREE:TMN]
synonym: "TMN" RELATED ABBREVIATION [ONCOTREE:TMN]
xref: EFO:1000575 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9920/3 {source="NCIT:C27912"}
xref: NCIT:C27912 {source="EFO:1000575", source="MONDO:equivalentTo"}
xref: ONCOTREE:TMN {source="MONDO:equivalentTo"}
is_a: MONDO:0005170 {source="EFO:1000575", source="MONDO:Redundant", source="NCIT:C27912", source="ONCOTREE:TMN/inferred"} ! myeloid neoplasm
is_a: MONDO:0021138 {source="MONDO:Redundant", source="NCIT:C27912"} ! bone marrow cancer
relationship: realized_in_response_to MAXO:0000014 {source="NCIT:C27912"} ! radiation therapy
relationship: realized_in_response_to MAXO:0000647 {source="NCIT:C27912"} ! chemotherapy

[Term]
id: MONDO:0006451
name: thymic carcinoma
def: "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential." [Orphanet:99868]
subset: gard_rare {source="GARD:19695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99868"}
subset: orphanet_rare {source="Orphanet:99868"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of thymus" EXACT [MONDO:patterns/carcinoma]
synonym: "malignant thymoma" EXACT [DOID:3284, NCIT:C7612, Orphanet:99868]
synonym: "THYC" RELATED ABBREVIATION [ONCOTREE:THYC]
synonym: "thymic carcinoma" EXACT [DOID:3284, NCIT:C7569]
synonym: "thymic carcinoma (excluding well differentiated thymic carcinoma)" EXACT [NCIT:C7569]
synonym: "thymic carcinoma excluding well differentiated thymic carcinoma" EXACT [NCIT:C7569]
synonym: "thymoma type C" EXACT DEPRECATED [NCIT:C7569]
synonym: "thymoma, malignant" EXACT [DOID:3284]
synonym: "thymoma, malignant (morphologic abnormality)" EXACT [DOID:3284]
synonym: "thymoma, type C" EXACT [DOID:4554]
synonym: "thymoma, type C (morphologic abnormality)" EXACT [DOID:4554]
synonym: "thymus carcinoma" EXACT [MONDO:patterns/location]
synonym: "type C thymoma" EXACT DEPRECATED [MONDO:0003048, NCIT:C7569]
xref: DOID:3284 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:4554 {source="MONDO:equivalentTo"}
xref: EFO:1000576 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19695 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:99868", source="Orphanet:99868/ntbt"}
xref: icd11.foundation:1351671383 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99868"}
xref: ICDO:8586/3 {source="NCIT:C7569"}
xref: MedDRA:10061031 {source="Orphanet:99868", source="Orphanet:99868/e"}
xref: MEDGEN:60049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013945 {source="DOID:3284"}
xref: NANDO:2200079 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7569 {source="DOID:4554", source="MONDO:equivalentTo", source="EFO:1000576"}
xref: NCIT:C7612 {source="DOID:3284"}
xref: ONCOTREE:THYC {source="MONDO:equivalentTo"}
xref: Orphanet:99868 {source="MONDO:equivalentTo"}
xref: SCTID:128717008 {source="DOID:4554", source="DOID:3284"}
xref: SCTID:15949004 {source="DOID:3284"}
xref: SCTID:444374006 {source="DOID:4554", source="MONDO:equivalentTo"}
xref: SCTID:444596001 {source="DOID:3284"}
xref: UMLS:C0205969 {source="MEDGEN:60049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002586 {source="DOID:3284", source="DOID:4554/inferred", source="MONDO:Redundant", source="NCIT:C7569"} ! thymus cancer
is_a: MONDO:0004993 {source="EFO:1000576", source="MONDO:Redundant"} ! carcinoma
is_a: MONDO:0018079 {source="MONDO:Redundant", source="NCIT:C7569", source="ONCOTREE:THYC", source="Orphanet:99868"} ! thymic epithelial neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus
relationship: disease_arises_from_structure CL:0002293 {source="NCIT:C7569"} ! epithelial cell of thymus
relationship: excluded_subClassOf MONDO:0006456 {source="DOID:4554", source="https://orcid.org/0000-0001-5208-3432"} ! thymoma

[Term]
id: MONDO:0006452
name: thymic sarcomatoid carcinoma
def: "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." [NCIT:C6463]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sarcomatoid carcinoma of the Thymus" EXACT [NCIT:C6463]
synonym: "sarcomatoid carcinoma of Thymus" EXACT [NCIT:C6463]
synonym: "thymic carcinosarcoma" EXACT [DOID:8138, NCIT:C6463]
synonym: "thymic sarcomatoid carcinoma" EXACT [NCIT:C6463]
synonym: "thymic spindle cell carcinoma" EXACT [NCIT:C6463]
synonym: "Thymus sarcomatoid carcinoma" EXACT [NCIT:C6463]
synonym: "thymus sarcomatoid carcinoma" EXACT [MONDO:0004476, MONDO:patterns/location]
xref: DOID:8138 {source="MONDO:equivalentTo"}
xref: EFO:1000577 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6463 {source="DOID:8138", source="MONDO:equivalentTo", source="EFO:1000577"}
xref: UMLS:C1335924 {source="MEDGEN:234772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006406 {source="DOID:8138", source="MONDO:Redundant", source="NCIT:C6463"} ! sarcomatoid carcinoma
is_a: MONDO:0006451 {source="DOID:8138/inferred", source="MONDO:Redundant", source="NCIT:C6463"} ! thymic carcinoma
intersection_of: MONDO:0006406 ! sarcomatoid carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus
relationship: excluded_subClassOf MONDO:0003493 {source="DOID:8138", source="https://orcid.org/0000-0001-5208-3432"} ! thymus squamous cell carcinoma

[Term]
id: MONDO:0006453
name: obsolete thymic small cell carcinoma
def: "OBSOLETE. An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." [NCIT:C6460]
is_obsolete: true
replaced_by: MONDO:0004122

[Term]
id: MONDO:0006454
name: obsolete thymic squamous cell carcinoma
def: "OBSOLETE. A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." [NCIT:C6455]
is_obsolete: true
replaced_by: MONDO:0003493

[Term]
id: MONDO:0006455
name: thymic undifferentiated carcinoma
def: "A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." [NCIT:C35718]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thymic undifferentiated carcinoma" EXACT [NCIT:C35718]
xref: EFO:1000580 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35718 {source="EFO:1000580", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1336865 {source="MEDGEN:234452", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005617 {source="EFO:1000580", source="MONDO:Redundant", source="NCIT:C35718"} ! undifferentiated carcinoma
is_a: MONDO:0006451 {source="MONDO:Redundant", source="NCIT:C35718"} ! thymic carcinoma
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0006456
name: thymoma
def: "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." [NCIT:C3411]
subset: gard_rare {source="GARD:16922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99867"}
subset: orphanet_rare {source="Orphanet:99867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "primary thymic epithelial neoplasm" EXACT [Orphanet:99867]
synonym: "primary thymic epithelial tumor" EXACT [Orphanet:99867]
synonym: "primary thymic epithelial tumour" EXACT OMO:0003005 []
synonym: "THYM" RELATED ABBREVIATION [ONCOTREE:THYM]
synonym: "thymoma" EXACT [MONDO:ambiguous, NCIT:C3411]
synonym: "thymoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:3275 {source="EFO:1000581", source="MONDO:equivalentTo"}
xref: EFO:1000581 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16922 {source="MONDO:GARD"}
xref: HP:0100522 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D15.0 {source="Orphanet:99867/ntbt", source="MONDO:relatedTo", source="Orphanet:99867"}
xref: ICD10CM:D38.4 {source="Orphanet:99867/btnt", source="Orphanet:99867"}
xref: icd11.foundation:33869057 {source="Orphanet:99867", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8580/1 {source="NCIT:C3411"}
xref: MedDRA:10043670 {source="Orphanet:99867", source="Orphanet:99867/e"}
xref: MEDGEN:52743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013945 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:3275", source="Orphanet:99867", source="MONDO:equivalentTo", source="Orphanet:99867/e"}
xref: NCIT:C3411 {source="DOID:3275", source="EFO:1000581", source="MONDO:equivalentTo"}
xref: ONCOTREE:THYM {source="MONDO:equivalentTo"}
xref: Orphanet:99867 {source="MONDO:equivalentTo"}
xref: SCTID:128856005 {source="DOID:3275"}
xref: SCTID:189721001 {source="DOID:3275"}
xref: SCTID:444231005 {source="DOID:3275", source="MONDO:equivalentTo"}
xref: UMLS:C0040100 {source="MEDGEN:52743", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018079 {source="NCIT:C3411", source="ONCOTREE:THYM", source="Orphanet:99867"} ! thymic epithelial neoplasm
property_value: IAO:0000589 "thymoma (disease)" xsd:string

[Term]
id: MONDO:0006457
name: obsolete thymoma type AB
is_obsolete: true
replaced_by: MONDO:0016975

[Term]
id: MONDO:0006458
name: thymoma type B3
def: "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." [NCIT:C7997]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical thymoma" EXACT [NCIT:C7997]
synonym: "epithelial malignant thymoma" EXACT [MONDO:0004399, NCIT:C7997]
synonym: "epithelial thymoma" EXACT [NCIT:C7997]
synonym: "malignant thymoma type B3" EXACT [NCIT:C7997]
synonym: "squamoid thymoma" EXACT [DOID:7926, NCIT:C7997]
synonym: "thymoma type B3" EXACT [NCIT:C7997]
synonym: "thymoma, epithelial" EXACT [DOID:7926]
synonym: "well differentiated thymic carcinoma" EXACT [DOID:7926, NCIT:C7997]
synonym: "well-differentiated thymic carcinoma" EXACT [NCIT:C7997]
xref: DOID:7926 {source="MONDO:equivalentTo"}
xref: EFO:1000583 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8585/1 {source="NCIT:C7997"}
xref: ICDO:8585/3 {source="NCIT:C7997"}
xref: MEDGEN:124648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7997 {source="EFO:1000583", source="MONDO:equivalentTo", source="DOID:7926"}
xref: SCTID:128715000 {source="DOID:7926"}
xref: SCTID:128716004 {source="DOID:7926"}
xref: UMLS:C0279705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124648"}
is_a: MONDO:0006456 {source="DOID:7926/inferred", source="EFO:1000583", source="MONDO:0006458/inferred", source="MONDO:Redundant", source="NCIT:C7997/inferred"} ! thymoma
is_a: MONDO:0016974 {source="DOID:7926", source="NCIT:C7997"} ! thymoma type B

[Term]
id: MONDO:0006459
name: thymoma type B1
def: "A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." [NCIT:C6887]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphocyte-predominant thymoma" EXACT [DOID:6917, NCIT:C6887]
synonym: "lymphocyte-rich thymoma" EXACT [NCIT:C6887]
synonym: "organoid thymoma" EXACT [NCIT:C6887]
synonym: "predominantly cortical thymoma" EXACT [NCIT:C6887]
synonym: "thymoma type B1" EXACT [NCIT:C6887]
synonym: "thymoma, organoid" EXACT [DOID:6917]
xref: DOID:6917 {source="MONDO:equivalentTo"}
xref: EFO:1000584 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8583/1 {source="NCIT:C6887"}
xref: MEDGEN:224761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6887 {source="EFO:1000584", source="MONDO:equivalentTo", source="DOID:6917"}
xref: SCTID:128711009 {source="DOID:6917"}
xref: UMLS:C1266094 {source="MEDGEN:224761", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006456 {source="DOID:6917/inferred", source="EFO:1000584", source="MONDO:0006459/inferred", source="MONDO:Redundant", source="NCIT:C6887/inferred"} ! thymoma
is_a: MONDO:0016974 {source="DOID:6917", source="NCIT:C6887"} ! thymoma type B

[Term]
id: MONDO:0006460
name: thyroglossal duct cyst
def: "A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "thyroglossal tract cyst" EXACT [Orphanet:489]
xref: EFO:1000585 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:759.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013955 {source="MONDO:equivalentTo"}
xref: NCIT:C85189 {source="MONDO:otherHierarchy", source="EFO:1000585"}
xref: Orphanet:489 {source="MONDO:equivalentObsolete"}
xref: SCTID:39462005 {source="MONDO:equivalentTo"}
xref: UMLS:C0040124 {source="MEDGEN:11810", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000585", source="MESH:D013955/inferred"} ! neoplasm

[Term]
id: MONDO:0006461
name: obsolete thyroid gland carcinoma
is_obsolete: true
replaced_by: MONDO:0015075

[Term]
id: MONDO:0006462
name: thyroid gland diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma primarily involving the thyroid gland." [NCIT:C6046]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse large B-cell lymphoma of the thyroid" EXACT [NCIT:C6046]
synonym: "diffuse large B-cell lymphoma of the thyroid gland" EXACT [NCIT:C6046]
synonym: "diffuse large B-cell lymphoma of thyroid" EXACT [NCIT:C6046]
synonym: "diffuse large B-cell lymphoma of thyroid gland" EXACT [NCIT:C6046]
synonym: "primary thyroid gland diffuse large B-cell lymphoma" EXACT [NCIT:C6046]
synonym: "thyroid diffuse large B-cell lymphoma" EXACT [NCIT:C6046]
synonym: "thyroid gland diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C6046]
xref: EFO:1000587 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6046 {source="MONDO:equivalentTo", source="EFO:1000587", source="MONDO:exact-label-match"}
xref: UMLS:C1336749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234429"}
is_a: MONDO:0005062 {source="EFO:1000587", source="MONDO:Redundant", source="NCIT:C6046/inferred"} ! lymphoma
is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C6046"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0006463
name: thyroid gland mucoepidermoid carcinoma
def: "A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." [NCIT:C38762]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mucoepidermoid thyroid carcinoma" EXACT [MONDO:0003094, NCIT:C38762]
synonym: "mucoepidermoid thyroid gland carcinoma" EXACT [NCIT:C38762]
synonym: "thyroid gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C38762]
xref: DOID:4687 {source="MONDO:equivalentTo"}
xref: EFO:1000590 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:270845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38762 {source="EFO:1000590", source="DOID:4687", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1513721 {source="MEDGEN:270845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C38762"} ! mucoepidermoid carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0006464
name: thyroid gland mucosa-associated lymphoid tissue lymphoma
def: "An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thyroid MALT lymphoma" EXACT [NCIT:C7601]
synonym: "thyroid mucosa-associated lymphoid tissue lymphoma" EXACT [NCIT:C7601]
xref: EFO:1000591 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7601 {source="EFO:1000591", source="MONDO:equivalentTo"}
xref: UMLS:C1336754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234948"}
is_a: MONDO:0005062 {source="EFO:1000591", source="MONDO:Redundant", source="NCIT:C7601/inferred"} ! lymphoma
is_a: MONDO:0007650 {source="NCIT:C7601"} ! MALT lymphoma

[Term]
id: MONDO:0006465
name: thyroid gland oncocytic follicular carcinoma
def: "A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." [NCIT:P378]
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0011836 thyroid Hurthle cell carcinoma
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "Hurthle cell carcinoma of the thyroid" EXACT [NCIT:C4946]
synonym: "Hurthle cell carcinoma of the thyroid gland" EXACT [NCIT:C4946]
synonym: "Hurthle cell carcinoma of thyroid" EXACT [NCIT:C4946]
synonym: "Hurthle cell carcinoma of thyroid gland" EXACT [NCIT:C4946]
synonym: "Hurthle cell thyroid gland carcinoma" EXACT [NCIT:C4946]
synonym: "oncocytic carcinoma of the thyroid" EXACT [NCIT:C4946]
synonym: "oncocytic carcinoma of thyroid" EXACT [NCIT:C4946]
synonym: "thyroid gland Hurthle cell carcinoma" RELATED [NCIT:C4946]
synonym: "thyroid Hurthle cell carcinoma" RELATED [NCIT:C4946]
synonym: "thyroid oncocytic carcinoma" EXACT [NCIT:C4946]
xref: EFO:1000592 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: NCIT:C4946 {source="EFO:1000592", source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="EFO:1000592", source="NCIT:C4946/inferred"} ! adenocarcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7613" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0006466
name: thyroid gland spindle cell tumor with thymus-like differentiation
def: "A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." [NCIT:C46105]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "settle" EXACT [NCIT:C46105]
synonym: "settle tumor" EXACT [DOID:0050923]
synonym: "settle tumour" EXACT OMO:0003005 []
synonym: "spindle epithelial tumor with thymus-like differentiation tumor" EXACT [MONDO:0000538]
synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT OMO:0003005 []
xref: DOID:0050923 {source="MONDO:equivalentTo"}
xref: EFO:1000593 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8588/3 {source="NCIT:C46105"}
xref: MEDGEN:220415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C46105 {source="EFO:1000593", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1266099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220415"}
is_a: MONDO:0015075 {source="DOID:0050923", source="NCIT:C46105"} ! thyroid gland carcinoma
relationship: excluded_subClassOf MONDO:0005094 {source="EFO:1000593", source="https://orcid.org/0000-0001-5208-3432"} ! hemangiopericytoma

[Term]
id: MONDO:0006467
name: thyroid gland squamous cell carcinoma
def: "A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." [NCIT:C46008]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "squamous cell thyroid gland carcinoma" EXACT [NCIT:C46008]
synonym: "thyroid gland squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C46008]
xref: EFO:1000594 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:328050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C46008 {source="EFO:1000594", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1710177 {source="MEDGEN:328050", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="EFO:1000594", source="MONDO:Redundant", source="NCIT:C46008"} ! squamous cell carcinoma
is_a: MONDO:0015075 {source="MONDO:Redundant", source="NCIT:C46008"} ! thyroid gland carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0006468
name: thyroid gland undifferentiated (anaplastic) carcinoma
def: "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." [NCIT:C3878]
subset: gard_rare {source="GARD:664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:142"}
subset: orphanet_rare {source="Orphanet:142"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic carcinoma of the thyroid" EXACT [NCIT:C3878]
synonym: "anaplastic carcinoma of the thyroid gland" EXACT [NCIT:C3878]
synonym: "anaplastic carcinoma of thyroid" EXACT [NCIT:C3878]
synonym: "anaplastic carcinoma of thyroid gland" EXACT [NCIT:C3878]
synonym: "anaplastic thyroid cancer" EXACT [NCIT:C3878]
synonym: "anaplastic thyroid carcinoma" EXACT [GARD:0000664, MONDO:ambiguous, NCIT:C3878]
synonym: "anaplastic thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "Dedifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "metaplastic thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "pleomorphic thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "sarcomatoid thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "THAP" RELATED ABBREVIATION [ONCOTREE:THAP]
synonym: "thyroid cancer, anaplastic" RELATED [GARD:0000664]
synonym: "thyroid carcinoma, anaplastic" RELATED [GARD:0000664]
synonym: "thyroid gland carcinosarcoma" EXACT [NCIT:C3878]
synonym: "thyroid gland undifferentiated (anaplastic) carcinoma" EXACT [NCIT:C3878]
synonym: "thyroid gland undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated (anaplastic) thyroid gland cancer" EXACT [NCIT:C3878]
synonym: "undifferentiated (anaplastic) thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "undifferentiated carcinoma of the thyroid" EXACT [NCIT:C3878]
synonym: "undifferentiated carcinoma of the thyroid gland" EXACT [NCIT:C3878]
synonym: "undifferentiated carcinoma of thyroid" EXACT [NCIT:C3878]
synonym: "undifferentiated carcinoma of thyroid gland" EXACT [NCIT:C3878]
synonym: "undifferentiated thyroid carcinoma" EXACT [NCIT:C3878]
synonym: "undifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878]
synonym: "undifferentiated thyroid tumor" EXACT [NCIT:C3878]
synonym: "undifferentiated thyroid tumour" EXACT OMO:0003005 []
xref: DOID:0080522 {source="MONDO:equivalentTo"}
xref: EFO:1000595 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:664 {source="MONDO:GARD"}
xref: HP:0011779 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C73 {source="Orphanet:142", source="Orphanet:142/ntbt"}
xref: icd11.foundation:320540024 {source="MONDO:equivalentTo", source="Orphanet:142", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10002240 {source="Orphanet:142/e", source="Orphanet:142"}
xref: MEDGEN:116064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536910 {source="Orphanet:142/e", source="Orphanet:142"}
xref: MESH:D065646 {source="MONDO:equivalentTo"}
xref: NCIT:C3878 {source="EFO:1000595", source="MONDO:equivalentTo"}
xref: ONCOTREE:THAP {source="MONDO:equivalentTo"}
xref: Orphanet:142 {source="MONDO:equivalentTo"}
xref: SCTID:255031003 {source="MONDO:equivalentTo"}
xref: UMLS:C0238461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116064"}
is_a: MONDO:0005232 {source="NCIT:C3878"} ! large cell carcinoma
is_a: MONDO:0005617 {source="EFO:1000595", source="MONDO:Redundant", source="NCIT:C3878"} ! undifferentiated carcinoma
is_a: MONDO:0015075 {source="MONDO:Redundant", source="NCIT:C3878", source="Orphanet:142"} ! thyroid gland carcinoma
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0006469
name: tibial adamantinoma
def: "An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." [NCIT:C8461]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adamantinoma of tibia" EXACT [MONDO:design_pattern]
synonym: "tibia adamantinoma" EXACT [MONDO:patterns/location]
synonym: "tibia long bone adamantinoma" EXACT [MONDO:patterns/location]
synonym: "tibial adamantinoma" EXACT [DOID:6322, NCIT:C8461]
synonym: "tibial adamantinoma morphology" EXACT [DOID:6322]
xref: DOID:6322 {source="MONDO:equivalentTo"}
xref: MEDGEN:220874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8461 {source="DOID:6322", source="MONDO:equivalentTo", source="EFO:1000596", source="MONDO:exact-label-match"}
xref: SCTID:189895006 {source="DOID:6322"}
xref: SCTID:210233007 {source="DOID:6322"}
xref: SCTID:281702006 {source="DOID:6322", source="MONDO:equivalentTo"}
xref: SCTID:313417009 {source="DOID:6322"}
xref: SCTID:56763007 {source="DOID:6322"}
xref: UMLS:C1273017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220874"}
is_a: MONDO:0002422 {source="DOID:6322", source="DOID:6322/inferred", source="MONDO:Redundant", source="NCIT:C8461"} ! adamantinoma
intersection_of: MONDO:0002422 ! adamantinoma
intersection_of: disease_has_location UBERON:0000979 ! tibia

[Term]
id: MONDO:0006470
name: tonsillar squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "palatine tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "SCC of the tonsil" EXACT [NCIT:C8183]
synonym: "SCC of tonsil" EXACT [NCIT:C8183]
synonym: "squamous cell carcinoma of the tonsil" EXACT [NCIT:C8183]
synonym: "squamous cell carcinoma of tonsil" EXACT [NCIT:C8183]
synonym: "tonsil SCC" EXACT [NCIT:C8183]
synonym: "tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "tonsillar SCC" EXACT [NCIT:C8183]
xref: DOID:0050920 {source="MONDO:equivalentTo"}
xref: EFO:1000597 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:79101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8183 {source="EFO:1000597", source="MONDO:equivalentTo"}
xref: UMLS:C0280317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79101"}
is_a: MONDO:0000536 {source="DOID:0050920", source="MONDO:Entailed"} ! pharyngeal squamous cell carcinoma
is_a: MONDO:0006998 {source="DOID:0050920", source="MONDO:Redundant"} ! tonsil cancer
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002373 ! palatine tonsil
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7134" xsd:anyURI

[Term]
id: MONDO:0006471
name: tracheal adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." [NCIT:C6051]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of the trachea" EXACT [NCIT:C6051]
synonym: "adenoid cystic carcinoma of trachea" EXACT [DOID:4875, NCIT:C6051]
synonym: "trachea adenoid cystic carcinoma" EXACT [MONDO:0003183, MONDO:patterns/location, NCIT:C6051]
synonym: "tracheal adenoid cystic carcinoma" EXACT [DOID:4875, NCIT:C6051]
xref: DOID:4875 {source="MONDO:equivalentTo"}
xref: EFO:1000598 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6051 {source="DOID:4875", source="MONDO:equivalentTo", source="EFO:1000598"}
xref: SCTID:254619006 {source="DOID:4875", source="MONDO:equivalentTo"}
xref: UMLS:C0345945 {source="MEDGEN:91058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003184 {source="DOID:4875", source="MONDO:Redundant", source="NCIT:C6051"} ! trachea carcinoma
is_a: MONDO:0004971 {source="EFO:1000598", source="MONDO:Redundant", source="NCIT:C6051"} ! adenoid cystic carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0006472
name: obsolete tracheal carcinoma
is_obsolete: true
replaced_by: MONDO:0003184

[Term]
id: MONDO:0006473
name: obsolete tracheal squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0001419

[Term]
id: MONDO:0006474
name: transitional cell carcinoma
def: "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." [NCIT:P378]
subset: gard_rare {source="GARD:7794", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of transitional epithelial cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of urothelial cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, urothelial, malignant" EXACT [NCIT:C2930]
synonym: "transitional carcinoma" EXACT [DOID:2671, NCIT:C2930]
synonym: "transitional cell carcinoma" EXACT [NCIT:C2930]
synonym: "transitional cell neoplasm" BROAD [DOID:2671]
synonym: "transitional cell tumor" BROAD [DOID:2671, NCIT:C6783]
synonym: "transitional cell tumour" BROAD OMO:0003005 []
synonym: "transitional epithelial cell carcinoma" EXACT []
synonym: "urothelial cell carcinoma" EXACT [DOID:2671, MONDO:patterns/location]
xref: DOID:2671 {source="MONDO:equivalentTo"}
xref: EFO:1000601 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7794 {source="MONDO:GARD"}
xref: ICDO:8120/3 {source="NCIT:C2930"}
xref: MEDGEN:2875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002295 {source="DOID:2671", source="MONDO:equivalentTo"}
xref: NCIT:C2930 {source="DOID:2671", source="MONDO:equivalentTo", source="EFO:1000601"}
xref: NCIT:C6783 {source="DOID:2671", source="MONDO:relatedTo"}
xref: SCTID:118287003 {source="DOID:2671"}
xref: SCTID:189576006 {source="DOID:2671"}
xref: SCTID:27090000 {source="DOID:2671"}
xref: UMLS:C0007138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2875"}
is_a: MONDO:0004993 {source="DOID:2671", source="EFO:1000601", source="MESH:D002295", source="MONDO:Redundant", source="NCIT:C2930"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location CL:0000244 ! transitional epithelial cell
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma" xsd:anyURI {source="GARD:0007794"}

[Term]
id: MONDO:0006475
name: obsolete unclassified renal cell carcinoma
def: "OBSOLETE. A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." [NCIT:C27892]
synonym: "unclassified renal cell cancer" EXACT [NCIT:C27892]
synonym: "unclassified renal cell carcinoma" EXACT [NCIT:C27892]
synonym: "URCC" RELATED ABBREVIATION [ONCOTREE:URCC]
xref: NCIT:C27892 {source="MONDO:obsoleteEquivalent", source="MONDO:exact-label-match", source="EFO:1000603"}
xref: ONCOTREE:URCC {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0005086

[Term]
id: MONDO:0006476
name: undifferentiated gallbladder carcinoma
def: "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." [NCIT:C9167]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic carcinoma of gallbladder" EXACT [NCIT:C9167]
synonym: "anaplastic carcinoma of the gallbladder" EXACT [NCIT:C9167]
synonym: "anaplastic gallbladder carcinoma" EXACT [NCIT:C9167]
synonym: "gall bladder undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "gallbladder undifferentiated carcinoma" EXACT [NCIT:C9167]
synonym: "undifferentiated carcinoma of gallbladder" EXACT [NCIT:C9167]
synonym: "undifferentiated carcinoma of the gallbladder" EXACT [NCIT:C9167]
synonym: "undifferentiated gallbladder cancer" EXACT [NCIT:C9167]
synonym: "undifferentiated gallbladder carcinoma" EXACT [NCIT:C9167]
xref: EFO:1000604 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:76010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9167 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000604"}
xref: UMLS:C0279653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76010"}
is_a: MONDO:0003220 {source="MONDO:Redundant", source="NCIT:C9167"} ! gallbladder carcinoma
is_a: MONDO:0005617 {source="EFO:1000604", source="MONDO:Redundant", source="NCIT:C9167"} ! undifferentiated carcinoma
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0006477
name: undifferentiated ovarian carcinoma
def: "An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." [NCIT:C4509]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic carcinoma of ovary" EXACT [NCIT:C4509]
synonym: "anaplastic carcinoma of the ovary" EXACT [NCIT:C4509]
synonym: "anaplastic ovarian carcinoma" EXACT [NCIT:C4509]
synonym: "ovarian undifferentiated carcinoma" EXACT [NCIT:C4509]
synonym: "ovary undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated carcinoma of ovary" EXACT [NCIT:C4509]
synonym: "undifferentiated carcinoma of the ovary" EXACT [NCIT:C4509]
synonym: "undifferentiated ovarian cancer" EXACT [NCIT:C4509]
synonym: "undifferentiated ovarian carcinoma" EXACT [NCIT:C4509]
xref: EFO:1000605 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4509 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000605"}
xref: SCTID:254856004 {source="MONDO:equivalentTo"}
xref: UMLS:C0346167 {source="MEDGEN:83410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005140 {source="EFO:1000605", source="MONDO:Entailed", source="NCIT:C4509"} ! ovarian carcinoma
is_a: MONDO:0005617 {source="EFO:1000605", source="MONDO:Redundant", source="NCIT:C4509"} ! undifferentiated carcinoma
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0006478
name: undifferentiated pancreatic carcinoma
def: "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." [NCIT:C5722]
subset: otar {source="MONDO:OTAR"}
synonym: "pancreas undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic carcinosarcoma" EXACT [NCIT:C5722]
synonym: "pleomorphic large cell pancreatic carcinoma" EXACT [NCIT:C5722]
synonym: "sarcomatoid pancreatic carcinoma" EXACT [NCIT:C5722]
synonym: "spindle cell pancreatic carcinoma" EXACT [NCIT:C5722]
synonym: "UCP" RELATED ABBREVIATION [ONCOTREE:UCP]
synonym: "undifferentiated (anaplastic) pancreatic carcinoma" EXACT [NCIT:C5722]
synonym: "undifferentiated carcinoma of pancreas" EXACT [NCIT:C5722]
synonym: "undifferentiated carcinoma of the pancreas" EXACT [NCIT:C5722]
synonym: "undifferentiated pancreatic carcinoma" EXACT [NCIT:C5722]
xref: EFO:1000606 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:237030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5722 {source="EFO:1000606", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:UCP {source="MONDO:equivalentTo"}
xref: UMLS:C1336861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237030"}
is_a: MONDO:0005184 {source="EFO:1000606", source="NCIT:C5722"} ! pancreatic ductal adenocarcinoma
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0006479
name: undifferentiated pancreatic carcinoma with osteoclast-like giant cells
def: "A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells." [NCIT:C5723]
subset: gard_rare {source="GARD:21782", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:424080"}
subset: orphanet_rare {source="Orphanet:424080"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OGCT of pancreas" EXACT [Orphanet:424080]
synonym: "osteoclast-like giant cell neoplasm of pancreas" EXACT [DOID:7718, NCIT:C5723]
synonym: "osteoclast-like giant cell neoplasm of the pancreas" EXACT [MONDO:0004342, NCIT:C5723]
synonym: "osteoclastic giant cell tumor of pancreas" EXACT [MONDO:0018527]
synonym: "osteoclastic giant cell tumour of pancreas" EXACT OMO:0003005 []
synonym: "pancreatic osteoclast-like giant cell carcinoma" EXACT [NCIT:C5723]
synonym: "pancreatic osteoclastic giant cell tumor" EXACT [Orphanet:424080]
synonym: "pancreatic osteoclastic giant cell tumour" EXACT OMO:0003005 []
synonym: "pancreatic undifferentiated carcinoma with osteoclast-like giant cells" EXACT [Orphanet:424080]
synonym: "undifferentiated carcinoma of pancreas with osteoclast-like giant cells" EXACT [Orphanet:424080]
synonym: "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" EXACT [NCIT:C5723]
xref: DOID:7718 {source="MONDO:equivalentTo"}
xref: EFO:1000607 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21782 {source="MONDO:GARD"}
xref: ICD10CM:C25.0 {source="Orphanet:424080", source="Orphanet:424080/nd"}
xref: ICD10CM:C25.1 {source="Orphanet:424080", source="Orphanet:424080/nd"}
xref: ICD10CM:C25.2 {source="Orphanet:424080", source="Orphanet:424080/nd"}
xref: ICD10CM:C25.7 {source="Orphanet:424080", source="Orphanet:424080/nd"}
xref: ICD10CM:C25.8 {source="Orphanet:424080", source="Orphanet:424080/nd"}
xref: MEDGEN:389157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5723 {source="EFO:1000607", source="MONDO:equivalentTo"}
xref: Orphanet:424080 {source="MONDO:equivalentTo"}
xref: UMLS:C2007059 {source="MEDGEN:389157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005184 {source="DOID:7718", source="EFO:1000607", source="MONDO:Redundant", source="NCIT:C5723/inferred"} ! pancreatic ductal adenocarcinoma
is_a: MONDO:0005192 {source="Orphanet:424080"} ! exocrine pancreatic carcinoma
is_a: MONDO:0006478 {source="NCIT:C5723"} ! undifferentiated pancreatic carcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0006480
name: undifferentiated pleomorphic sarcoma, inflammatory variant
def: "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." [NCIT:C6497]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammatory malignant fibrous histiocytoma" EXACT [NCIT:C6497]
synonym: "inflammatory MFH" EXACT [MONDO:0003797, NCIT:C6497]
synonym: "malignant xanthogranuloma" EXACT [NCIT:C6497]
synonym: "undifferentiated pleomorphic sarcoma, inflammatory variant" EXACT [NCIT:C6497]
synonym: "Xanthosarcoma" EXACT [DOID:6192, NCIT:C6497]
xref: DOID:6192 {source="MONDO:equivalentTo"}
xref: EFO:1000608 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6497 {source="EFO:1000608", source="DOID:6192", source="MONDO:equivalentTo"}
xref: UMLS:C1334180 {source="MEDGEN:235211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002142 {source="DOID:6192", source="NCIT:C6497"} ! undifferentiated pleomorphic sarcoma
is_a: MONDO:0005089 {source="EFO:1000608", source="NCIT:C6497/inferred"} ! sarcoma

[Term]
id: MONDO:0006481
name: ureter carcinoma
def: "A carcinoma that arises from epithelial cells of the ureter." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of the ureter" EXACT [NCIT:C8993]
synonym: "carcinoma of ureter" EXACT [MONDO:patterns/carcinoma, NCIT:C8993]
synonym: "ureter cancer" BROAD [NCIT:C8993]
synonym: "ureter carcinoma" EXACT [MONDO:patterns/location, NCIT:C8993]
synonym: "ureteral carcinoma" EXACT [DOID:4939, NCIT:C8993]
xref: DOID:4939 {source="MONDO:equivalentTo"}
xref: EFO:1000609 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:109002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8993 {source="EFO:1000609", source="MONDO:equivalentTo", source="DOID:4939"}
xref: SCTID:448864006 {source="MONDO:equivalentTo"}
xref: UMLS:C0600079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:109002"}
is_a: MONDO:0004993 {source="DOID:4939", source="EFO:1000609", source="MONDO:Redundant", source="NCIT:C8993"} ! carcinoma
is_a: MONDO:0008627 {source="DOID:4939", source="MONDO:Redundant", source="NCIT:C8993"} ! ureter cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0006482
name: ureter small cell carcinoma
def: "A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor." [NCIT:C6176]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "small cell carcinoma of the ureter" EXACT [NCIT:C6176]
synonym: "small cell carcinoma of ureter" EXACT [NCIT:C6176]
synonym: "ureter small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6176]
synonym: "ureteral small cell carcinoma" EXACT [DOID:6886, NCIT:C6176]
xref: DOID:6886 {source="MONDO:equivalentTo"}
xref: MEDGEN:234971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6176 {source="DOID:6886", source="MONDO:equivalentTo", source="EFO:1000610", source="MONDO:exact-label-match"}
xref: UMLS:C1336878 {source="MEDGEN:234971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="DOID:6886", source="MONDO:Redundant", source="NCIT:C6176"} ! small cell carcinoma
is_a: MONDO:0006481 {source="DOID:6886", source="MONDO:Redundant", source="NCIT:C6176"} ! ureter carcinoma
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0006483
name: urothelial dysplasia
def: "A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." [NCIT:C39856]
comment: This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future.
subset: otar {source="MONDO:OTAR"}
synonym: "transitional cell dysplasia of the urinary tract" EXACT [NCIT:C39856]
synonym: "urothelial dysplasia" EXACT [NCIT:C39856]
xref: EFO:1000611 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:266165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39856 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000611", source="MONDO:exact-label-match"}
xref: UMLS:C1275859 {source="MEDGEN:266165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000611"} ! neoplasm
relationship: disease_has_location UBERON:0000365 ! urothelium

[Term]
id: MONDO:0006484
name: usual ductal breast hyperplasia
def: "A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ductal breast hyperplasia of usual type" EXACT [NCIT:C27941]
synonym: "ordinary intraductal breast hyperplasia" EXACT [NCIT:C27941]
synonym: "UDH" EXACT ABBREVIATION [NCIT:C27941]
xref: EFO:1000612 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:611.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:759542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27941 {source="MONDO:equivalentTo", source="EFO:1000612"}
xref: SCTID:472905007 {source="MONDO:equivalentTo"}
xref: UMLS:C3532429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:759542"}
is_a: MONDO:0004007 {source="NCIT:C27941"} ! breast intraductal proliferative lesion
is_a: MONDO:0005043 {source="EFO:1000612", source="NCIT:C27941/inferred"} ! hyperplasia

[Term]
id: MONDO:0006485
name: uterine carcinosarcoma
def: "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma." [NCIT:C42700]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinosarcoma of the uterus" EXACT [NCIT:C42700]
synonym: "malignant mixed mesodermal (Mullerian) tumor of the uterus" EXACT [NCIT:C42700]
synonym: "malignant mixed mesodermal (Mullerian) tumour of the uterus" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal (Müllerian) tumor of the uterus" EXACT [NCIT:C42700]
synonym: "malignant mixed mesodermal (Müllerian) tumour of the uterus" EXACT OMO:0003005 []
synonym: "mixed mullerian sarcoma of uterus" EXACT [DOID:6171, NCIT:C9180]
synonym: "uterine carcinosarcoma" EXACT [NCIT:C42700]
synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumor" RELATED [ONCOTREE:UCS]
synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumour" RELATED OMO:0003005 []
synonym: "uterine malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C42700]
synonym: "uterine malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 []
synonym: "uterine malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C42700]
synonym: "uterine malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 []
synonym: "uterus carcinosarcoma" EXACT [MONDO:patterns/location]
xref: DOID:6171 {source="MONDO:equivalentTo"}
xref: EFO:1000613 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:83678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012192 {source="MONDO:equivalentTo", source="EFO:1000613"}
xref: NCIT:C42700 {source="MONDO:equivalentTo", source="DOID:6171", source="EFO:1000613"}
xref: ONCOTREE:UCS {source="MONDO:equivalentTo"}
xref: SCTID:702369008 {source="MONDO:equivalentTo", source="DOID:6171"}
xref: UMLS:C0280630 {source="MEDGEN:83678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002715 {source="DOID:6171/inferred", source="MONDO:Redundant", source="NCIT:C42700"} ! uterine cancer
is_a: MONDO:0002928 {source="MONDO:Redundant", source="NCIT:C42700/inferred"} ! carcinosarcoma
intersection_of: MONDO:0002928 ! carcinosarcoma
intersection_of: disease_has_location UBERON:0000995 ! uterus

[Term]
id: MONDO:0006486
name: uveal melanoma
def: "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." [NCIT:P378]
subset: gard_rare {source="GARD:8621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:39044"}
subset: orphanet_rare {source="Orphanet:39044"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choroidal melanoma" RELATED [Orphanet:39044]
synonym: "intraocular melanoma" EXACT [NCIT:C7712]
synonym: "iris melanoma" NARROW [Orphanet:39044]
synonym: "melanoma (disease) of uvea" EXACT []
synonym: "melanoma of the uvea" EXACT [NCIT:C7712]
synonym: "melanoma of uvea" EXACT [DOID:6039, NCIT:C7712]
synonym: "melanoma, uveal, malignant" EXACT [NCIT:C7712]
synonym: "uvea melanoma" EXACT []
synonym: "uvea melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "uveal melanoma" EXACT [MONDO:0018313]
xref: DOID:6039 {source="MONDO:equivalentTo"}
xref: EFO:1000616 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8621 {source="MONDO:GARD"}
xref: ICD10CM:C69.3 {source="Orphanet:39044", source="Orphanet:39044/ntbt"}
xref: MedDRA:10061252 {source="Orphanet:39044", source="Orphanet:39044/e"}
xref: MEDGEN:65077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536494 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="Orphanet:39044/e"}
xref: NCIT:C7712 {source="DOID:6039", source="MONDO:equivalentTo", source="EFO:1000616"}
xref: OMIM:155720 {source="DOID:6039", source="MONDO:equivalentTo", source="Orphanet:39044", source="Orphanet:39044/e"}
xref: ONCOTREE:UM {source="MONDO:equivalentTo"}
xref: Orphanet:39044 {source="DOID:6039", source="MONDO:equivalentTo"}
xref: UMLS:C0220633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65077"}
is_a: MONDO:0002659 {source="DOID:6039", source="MONDO:Redundant", source="NCIT:C7712"} ! uveal cancer
is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C7712", source="ONCOTREE:UM"} ! ocular melanoma
is_a: MONDO:0021220 {source="Orphanet:39044"} ! eye neoplasm
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001768 ! uvea
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare

[Term]
id: MONDO:0006487
name: vaginal adenoid cystic carcinoma
def: "An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." [NCIT:C40261]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "vaginal adenoid cystic cancer" EXACT [NCIT:C40261]
synonym: "vaginal adenoid cystic carcinoma" EXACT [NCIT:C40261]
xref: MEDGEN:274376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40261 {source="EFO:1000617", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: UMLS:C1519912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274376"}
is_a: MONDO:0004971 {source="EFO:1000617", source="NCIT:C40261"} ! adenoid cystic carcinoma
is_a: MONDO:0015867 {source="NCIT:C40261"} ! vaginal carcinoma

[Term]
id: MONDO:0006488
name: vaginal carcinosarcoma
def: "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." [NCIT:C40278]
synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136]
synonym: "malignant vaginal mixed epithelial and mesenchymal tumour" RELATED OMO:0003005 []
synonym: "vaginal carcinosarcoma" EXACT [NCIT:C40278]
synonym: "vaginal malignant mixed mesodermal (Mullerian) tumor" RELATED [NCIT:C40278]
synonym: "vaginal malignant mixed mesodermal (Mullerian) tumour" RELATED OMO:0003005 []
synonym: "vaginal malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40278]
synonym: "vaginal malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 []
synonym: "vaginal malignant mixed Mullerian tumor" RELATED [DOID:136]
synonym: "vaginal malignant mixed Mullerian tumour" RELATED OMO:0003005 []
synonym: "vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136]
synonym: "vaginal mixed epithelial and mesenchymal tumour" RELATED OMO:0003005 []
xref: DOID:136 {source="MONDO:equivalentTo"}
xref: MEDGEN:275573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40278 {source="EFO:1000618", source="MONDO:equivalentTo", source="DOID:136"}
xref: UMLS:C1519918 {source="MONDO:equivalentTo", source="MEDGEN:275573", source="MONDO:MEDGEN"}
is_a: MONDO:0037746 {source="NCIT:C40278"} ! malignant vaginal mixed epithelial and mesenchymal neoplasm
relationship: excluded_subClassOf MONDO:0015867 {source="DOID:136", source="https://orcid.org/0000-0001-5208-3432"} ! vaginal carcinoma

[Term]
id: MONDO:0006489
name: vaginal melanoma
def: "A primary malignant neoplasm of the vagina composed of malignant melanocytes." [NCIT:C27394]
subset: otar {source="MONDO:OTAR"}
synonym: "melanoma (disease) of vagina" EXACT []
synonym: "melanoma of the vagina" EXACT [NCIT:C27394]
synonym: "melanoma of vagina" EXACT [NCIT:C27394]
synonym: "mucosal melanoma of the vulva/vagina" BROAD [ONCOTREE:VMM]
synonym: "vagina melanoma" EXACT []
synonym: "vagina melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "vaginal melanoma" EXACT [NCIT:C27394]
xref: EFO:1000619 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:378335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27394 {source="EFO:1000619", source="ONCOTREE:VMM", source="MONDO:equivalentTo"}
xref: ONCOTREE:VMM {source="MONDO:equivalentTo"}
xref: UMLS:C2004576 {source="MONDO:equivalentTo", source="MEDGEN:378335", source="MONDO:MEDGEN"}
is_a: MONDO:0000544 {source="NCIT:C27394"} ! mucosal melanoma
is_a: MONDO:0005105 {source="EFO:1000619", source="MONDO:Redundant", source="NCIT:C27394/inferred"} ! melanoma
is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C27394/inferred"} ! vaginal neoplasm
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0006490
name: vaginal squamous cell carcinoma
def: "A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of vagina squamous cell" EXACT [MONDO:patterns/carcinoma]
synonym: "epidermoid carcinoma of the vagina" EXACT [NCIT:C7736]
synonym: "epidermoid carcinoma of vagina" EXACT [NCIT:C7736]
synonym: "epidermoid cell carcinoma of the vagina" EXACT [NCIT:C7736]
synonym: "epidermoid cell carcinoma of vagina" EXACT [NCIT:C7736]
synonym: "squamous cell carcinoma of the vagina" EXACT [NCIT:C7736]
synonym: "squamous cell carcinoma of the vulva/vagina" RELATED [ONCOTREE:VSC]
synonym: "squamous cell carcinoma of vagina" EXACT [NCIT:C7736]
synonym: "vagina epidermoid carcinoma" EXACT [NCIT:C7736]
synonym: "vagina epidermoid cell carcinoma" EXACT [NCIT:C7736]
synonym: "vagina squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7736]
synonym: "vaginal epidermoid carcinoma" EXACT [NCIT:C7736]
synonym: "vaginal epidermoid cell carcinoma" EXACT [NCIT:C7736]
synonym: "vaginal squamous cell cancer" EXACT [NCIT:C7736]
synonym: "vaginal squamous cell cancer, NOS" EXACT [NCIT:C7736]
synonym: "vaginal squamous cell carcinoma" EXACT [NCIT:C7736]
synonym: "vaginal squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C7736]
synonym: "vaginal squamous cell carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C7736]
xref: EFO:1000620 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:66775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C180915 {source="MONDO:equivalentTo"}
xref: NCIT:C7736 {source="MONDO:equivalentTo", source="EFO:1000620"}
xref: ONCOTREE:VSC {source="MONDO:equivalentTo"}
xref: SCTID:105121000119102 {source="MONDO:equivalentTo"}
xref: UMLS:C0238518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66775"}
is_a: MONDO:0001806 {source="MONDO:Redundant", source="NCIT:C7736"} ! vaginal squamous tumor
is_a: MONDO:0005096 {source="EFO:1000620", source="MONDO:Redundant", source="NCIT:C7736"} ! squamous cell carcinoma
is_a: MONDO:0015867 {source="MONDO:Redundant", source="NCIT:C7736"} ! vaginal carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0006491
name: vulvar lichen sclerosus
def: "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." [NCIT:C27723]
subset: otar {source="MONDO:OTAR"}
synonym: "lichen sclerosus et atrophicus of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva lichen sclerosus et atrophicus" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vulvar lichen sclerosus" EXACT [NCIT:C27723]
xref: EFO:1000623 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:7228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007724 {source="MONDO:equivalentTo"}
xref: NCIT:C27723 {source="MONDO:equivalentTo", source="EFO:1000623"}
xref: UMLS:C0022783 {source="MONDO:equivalentTo", source="MEDGEN:7228", source="MONDO:MEDGEN"}
is_a: MONDO:0001938 {source="NCIT:C27723"} ! vulvar dystrophy
is_a: MONDO:0005039 {source="EFO:1000623", source="MONDO:Redundant", source="NCIT:C27723/inferred"} ! reproductive system disorder
is_a: MONDO:0007899 {source="MONDO:Redundant", source="NCIT:C27723"} ! lichen sclerosus et atrophicus
intersection_of: MONDO:0007899 ! lichen sclerosus et atrophicus
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0006492
name: obsolete vulvar squamous cell carcinoma
is_obsolete: true
replaced_by: MONDO:0002210

[Term]
id: MONDO:0006493
name: Warthin tumor
def: "An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." [NCIT:C2854]
subset: otar {source="MONDO:OTAR"}
synonym: "adenolymphoma" EXACT [NCIT:C2854]
synonym: "papillary cystadenoma lymphomatosum" RELATED [NCIT:C2854]
synonym: "papillary cystadenoma lymphomatosum (formerly)" RELATED DEPRECATED [GARD:0008569]
synonym: "Warthin tumor" EXACT [NCIT:C2854]
synonym: "Warthin's tumor" EXACT [NCIT:C2854]
synonym: "Warthin's tumour" EXACT OMO:0003005 []
xref: EFO:1000625 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8561/0 {source="NCIT:C2854"}
xref: MEDGEN:124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000235 {source="MONDO:equivalentTo"}
xref: NCIT:C2854 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000625"}
xref: SCTID:422470007 {source="MONDO:equivalentTo"}
xref: UMLS:C0001429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124"}
is_a: MONDO:0004972 {source="EFO:1000625", source="MONDO:Redundant", source="NCIT:C2854"} ! adenoma
is_a: MONDO:0021460 {source="NCIT:C2854"} ! benign neoplasm of salivary gland
is_a: MONDO:0036976 {source="MONDO:Redundant", source="NCIT:C2854"} ! benign epithelial neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor" xsd:anyURI {source="GARD:0008569"}

[Term]
id: MONDO:0006494
name: obsolete thyroid disease
is_obsolete: true
replaced_by: MONDO:0003240

[Term]
id: MONDO:0006495
name: obsolete marginal zone B-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0017604

[Term]
id: MONDO:0006496
name: palsy
def: "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" [MESH:D010243]
subset: otar {source="MONDO:OTAR"}
synonym: "Plegia" EXACT [MESH:D010243]
synonym: "Plegias" EXACT [MESH:D010243]
xref: EFO:1000631 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G80-G83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:854494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010243 {source="MONDO:equivalentTo"}
xref: UMLS:C3887651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854494"}
xref: Wikipedia:Palsy {source="EFO:1000631"}
is_a: MONDO:0002602 {source="EFO:1000631", source="https://github.com/monarch-initiative/mondo/issues/622"} ! central nervous system disorder
relationship: excluded_subClassOf MONDO:0005071 {source="EFO:1000631", source="MESH:D010243/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder

[Term]
id: MONDO:0006497
name: cerebral palsy
def: "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "infantile cerebral palsy" EXACT [DOID:1969]
xref: CSP:0723-4729 {source="DOID:1969"}
xref: DOID:1969 {source="MONDO:equivalentTo"}
xref: EFO:1000632 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100021 {source="MONDO:otherHierarchy", source="EFO:1000632"}
xref: ICD10CM:G80 {source="MONDO:equivalentTo", source="DOID:1969"}
xref: ICD10CM:G80.9 {source="DOID:1969"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1969"}
xref: ICD9:343.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002547 {source="MONDO:equivalentTo", source="DOID:1969"}
xref: NCIT:C34460 {source="MONDO:equivalentTo", source="DOID:1969"}
xref: SCTID:1178005 {source="DOID:1969"}
xref: SCTID:128188000 {source="MONDO:equivalentTo", source="DOID:1969"}
xref: SCTID:155024003 {source="DOID:1969"}
xref: SCTID:267696006 {source="DOID:1969"}
xref: SCTID:270488006 {source="DOID:1969"}
xref: UMLS:C0007789 {source="MEDGEN:854", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:1969", source="MESH:D002547/inferred", source="MONDO:Redundant"} ! brain disorder
is_a: MONDO:0006496 {source="EFO:1000632"} ! palsy
relationship: disease_has_location UBERON:0000956 {source="EFO:0000784"} ! cerebral cortex
relationship: excluded_subClassOf MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C34460", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease

[Term]
id: MONDO:0006498
name: adenomatous colon polyp
def: "A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adenomatous polyp of colon" EXACT [NCIT:C96479]
synonym: "adenomatous polyp of the colon" EXACT [NCIT:C96479]
synonym: "colon adenomatous polyp" EXACT [NCIT:C96479]
synonym: "colonic adenomatous polyp" EXACT [NCIT:C96479]
xref: EFO:1000633 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0005227 {source="MONDO:otherHierarchy", source="EFO:1000633"}
xref: MEDGEN:163407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96479 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:428054006 {source="MONDO:equivalentTo"}
xref: UMLS:C0850572 {source="MEDGEN:163407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000527 {source="NCIT:C96479"} ! colon adenoma
is_a: MONDO:0005079 {source="EFO:1000633", source="MONDO:Redundant", source="NCIT:C96479/inferred"} ! polyp
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C96479/inferred"} ! colonic neoplasm
is_a: MONDO:0021400 {source="MONDO:Redundant", source="NCIT:C96479"} ! polyp of colon
relationship: disease_has_location UBERON:0001155 {source="EFO:0000784"} ! colon

[Term]
id: MONDO:0006499
name: hamartoma
def: "A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hamartoma" EXACT [MONDO:ambiguous, NCIT:C3075]
synonym: "hamartoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:1000634 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0010566 {source="MONDO:otherHierarchy", source="EFO:1000634"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006222 {source="MONDO:equivalentTo"}
xref: NCIT:C3075 {source="MONDO:equivalentTo"}
xref: SCTID:400006008 {source="MONDO:equivalentTo"}
xref: UMLS:C0018552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6713"}
is_a: MONDO:0005070 {source="EFO:1000634", source="MESH:D006222"} ! neoplasm
property_value: IAO:0000589 "hamartoma (disease)" xsd:string

[Term]
id: MONDO:0006500
name: hemangioma
def: "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels." [NCIT:C3085]
subset: otar {source="MONDO:OTAR"}
synonym: "angioma" RELATED [NCIT:C3085]
synonym: "benign angioma" RELATED [NCIT:C3085]
synonym: "benign hemangioma" EXACT [NCIT:C3085]
synonym: "hemangioma" EXACT [NCIT:C3085]
synonym: "hemangioma, benign" EXACT [NCIT:C3085]
xref: DOID:255 {source="MONDO:equivalentTo"}
xref: EFO:1000635 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001028 {source="MONDO:otherHierarchy", source="EFO:1000635"}
xref: ICD10CM:D18.0 {source="DOID:255"}
xref: ICD10CM:D18.00 {source="DOID:255"}
xref: ICD9:228.0 {source="DOID:255"}
xref: ICD9:228.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:255"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9120/0 {source="NCIT:C3085"}
xref: MEDGEN:5477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006391 {source="MONDO:equivalentTo", source="DOID:255"}
xref: NCIT:C3085 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:255"}
xref: ONCOTREE:HEMA {source="MONDO:equivalentTo"}
xref: SCTID:154625006 {source="DOID:255"}
xref: SCTID:189192007 {source="DOID:255"}
xref: SCTID:189193002 {source="DOID:255"}
xref: SCTID:189194008 {source="DOID:255"}
xref: SCTID:189199003 {source="DOID:255"}
xref: SCTID:189863005 {source="DOID:255"}
xref: SCTID:2099007 {source="DOID:255"}
xref: SCTID:253053003 {source="DOID:255"}
xref: SCTID:254822005 {source="DOID:255"}
xref: SCTID:269646001 {source="DOID:255"}
xref: SCTID:367337005 {source="DOID:255"}
xref: SCTID:400210000 {source="MONDO:equivalentTo", source="DOID:255"}
xref: SCTID:93474003 {source="DOID:255"}
xref: UMLS:C0018916 {source="MEDGEN:5477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005165 {source="DOID:255", source="DOID:255/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! benign neoplasm
is_a: MONDO:0024286 {source="MONDO:Redundant", source="NCIT:C3085"} ! benign blood vessel neoplasm
relationship: disease_arises_from_structure CL:0000071 ! blood vessel endothelial cell
relationship: disease_has_location UBERON:0001981 ! blood vessel

[Term]
id: MONDO:0006501
name: obsolete inflammatory skin disease
comment: Duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/377" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002406

[Term]
id: MONDO:0006502
name: acute respiratory distress syndrome
def: "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." [NCIT:C3353]
comment: This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586]
subset: otar {source="MONDO:OTAR"}
synonym: "acute lung injury" RELATED [GARD:0005698]
synonym: "acute respiratory distress syndrome" EXACT [GARD:0005698]
synonym: "ALI" RELATED ABBREVIATION [GARD:0005698]
synonym: "ARDS" EXACT ABBREVIATION [DOID:11394]
synonym: "increased-permeability pulmonary edema" RELATED [GARD:0005698]
synonym: "increased-permeability pulmonary oedema" RELATED OMO:0003005 []
synonym: "non-cardiogenic pulmonary edema" RELATED [DOID:11394, GARD:0005698]
synonym: "non-cardiogenic pulmonary oedema" RELATED OMO:0003005 []
synonym: "shock lung" EXACT [DOID:11394, GARD:0005698]
synonym: "Stiff lung" RELATED [GARD:0005698]
xref: EFO:1000637 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J80 {source="MONDO:equivalentTo", source="DOID:11394", source="Orphanet:70578", source="Orphanet:70578/e"}
xref: MedDRA:10001052 {source="EFO:1000637"}
xref: MEDGEN:1812214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3353 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"}
xref: SCTID:155627006 {source="DOID:11394"}
xref: SCTID:196150004 {source="DOID:11394"}
xref: SCTID:196154008 {source="DOID:11394"}
xref: SCTID:206281003 {source="DOID:11394"}
xref: SCTID:266411000 {source="DOID:11394"}
xref: UMLS:C2887484 {source="MONDO:equivalentTo", source="MEDGEN:1812214", source="MONDO:MEDGEN"}
is_a: MONDO:0001208 {source="DOID:11394"} ! acute respiratory failure
is_a: MONDO:0002254 {source="NCIT:C3353"} ! syndromic disease
is_a: MONDO:0005087 {source="DOID:11394/inferred", source="EFO:1000637", source="MESH:D012128/inferred"} ! respiratory system disorder
relationship: disease_has_feature HP:0002093 ! Respiratory insufficiency
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0006503
name: obsolete episodic ataxia
is_obsolete: true
replaced_by: MONDO:0016227

[Term]
id: MONDO:0006504
name: acquired metabolic disease
def: "An instance of metabolic disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: otar {source="MONDO:OTAR"}
synonym: "acquired metabolic disease" EXACT [MONDO:patterns/acquired]
xref: DOID:0060158 {source="EFO:1000639", source="MONDO:equivalentTo"}
xref: EFO:1000639 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005066 {source="DOID:0060158", source="EFO:1000639", source="MONDO:Entailed", source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0006505
name: basal ganglia cerebrovascular disorder
def: "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." [MESH:D020144]
subset: otar {source="MONDO:OTAR"}
synonym: "cerebrovascular disorder of collection of basal ganglia" EXACT [MONDO:design_pattern]
synonym: "collection of basal ganglia cerebrovascular disorder" EXACT [MONDO:patterns/location]
xref: DOID:10991 {source="MONDO:equivalentTo", source="EFO:1000640"}
xref: EFO:1000640 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:148381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020144 {source="MONDO:equivalentTo", source="DOID:10991"}
xref: UMLS:C0751739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148381"}
is_a: MONDO:0003996 {source="DOID:10991", source="MESH:D020144", source="MONDO:Entailed", source="MONDO:Redundant"} ! basal ganglia disorder
is_a: MONDO:0011057 {source="DOID:10991", source="EFO:1000640", source="MESH:D020144", source="MONDO:Entailed", source="MONDO:Redundant"} ! cerebrovascular disorder
intersection_of: MONDO:0011057 ! cerebrovascular disorder
intersection_of: disease_has_location UBERON:0010011 ! collection of basal ganglia

[Term]
id: MONDO:0006506
name: congenital nonspherocytic hemolytic anemia
def: "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." [MESH:D000746]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary nonspherocytic hemolytic anaemia" EXACT OMO:0003005 []
synonym: "hereditary nonspherocytic hemolytic anemia" EXACT [DOID:2861]
synonym: "HNSHA" EXACT ABBREVIATION [DOID:2861]
xref: DOID:2861 {source="EFO:1000641", source="MONDO:equivalentTo"}
xref: EFO:1000641 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000746 {source="DOID:2861", source="MONDO:equivalentTo"}
xref: Orphanet:712 {source="DOID:2861"}
xref: SCTID:300389006 {source="DOID:2861"}
xref: SCTID:301317008 {source="DOID:2861", source="MONDO:equivalentTo"}
xref: SCTID:82775009 {source="DOID:2861"}
xref: UMLS:C0002882 {source="MEDGEN:284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003689 {xref="https://github.com/monarch-initiative/mondo/issues/1503", xref="https://orcid.org/0000-0001-6330-7526"} ! familial hemolytic anemia
is_a: MONDO:0019050 {source="EFO:1000641"} ! inherited hemoglobinopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0006507
name: hereditary hemochromatosis
def: "An inherited metabolic disorder characterized by iron accumulation in the tissues." [NCIT:P378]
comment: Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes bronze" EXACT [DOID:2352]
synonym: "haemochromatosis" BROAD [DOID:2352]
synonym: "hemochromatosis" BROAD [DOID:2352]
synonym: "hemochromatosis, hereditary" EXACT [OMIM:235200]
synonym: "iron storage disorder" EXACT [DOID:2352]
xref: DOID:2352 {source="MONDO:equivalentTo", source="EFO:1000642"}
xref: ICD10CM:E83.11 {source="DOID:2352"}
xref: ICD10CM:E83.110 {source="DOID:2352", source="MONDO:equivalentTo"}
xref: ICD10CM:E83.119 {source="DOID:2352"}
xref: MEDGEN:140272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006432 {source="DOID:2352", source="MONDO:equivalentTo"}
xref: NCIT:C84481 {source="DOID:2352", source="MONDO:equivalentTo"}
xref: OMIMPS:235200 {source="DOID:2352", source="MONDO:equivalentTo"}
xref: Orphanet:139498 {source="DOID:2352"}
xref: SCTID:154751003 {source="DOID:2352"}
xref: SCTID:267504005 {source="DOID:2352"}
xref: SCTID:35400008 {source="MONDO:equivalentTo"}
xref: SCTID:399144008 {source="DOID:2352"}
xref: SCTID:399187006 {source="DOID:2352", source="MONDO:relatedTo"}
xref: SCTID:86781004 {source="DOID:2352"}
xref: UMLS:C0392514 {source="MEDGEN:140272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001436 {source="NCIT:C84481"} ! hemosiderosis
is_a: MONDO:0004689 {source="DOID:2352", source="MESH:D006432"} ! inborn metal metabolism disorder
is_a: MONDO:0017763 {source="Orphanet:220489"} ! disorder of iron metabolism and transport
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:235200"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3557" xsd:anyURI

[Term]
id: MONDO:0006508
name: obsolete infantile epileptic encephalopathy
is_obsolete: true
replaced_by: MONDO:0016021

[Term]
id: MONDO:0006509
name: papillary carcinoma
def: "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma." [NCIT:C2927]
subset: otar {source="MONDO:OTAR"}
synonym: "papillary carcinoma" EXACT [DOID:3113, NCIT:C2927]
synonym: "papillary carcinoma (morphologic abnormality)" EXACT [DOID:3113]
synonym: "papillary carcinoma NOS (morphologic abnormality)" EXACT [DOID:3113]
xref: DOID:3113 {source="MONDO:equivalentTo", source="EFO:1000646"}
xref: EFO:1000646 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8050/3 {source="NCIT:C2927"}
xref: MEDGEN:40105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002291 {source="DOID:3113", source="MONDO:equivalentTo"}
xref: NCIT:C2927 {source="DOID:3113", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000646"}
xref: SCTID:189562005 {source="DOID:3113"}
xref: SCTID:25910003 {source="DOID:3113"}
xref: UMLS:C0007133 {source="MEDGEN:40105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="DOID:3113", source="MESH:D002291", source="NCIT:C2927"} ! carcinoma
is_a: MONDO:0021096 {source="NCIT:C2927"} ! papillary epithelial neoplasm

[Term]
id: MONDO:0006510
name: renal tubular transport disease
def: "Genetic defects in the selective or non-selective transport functions of the kidney tubules." [MESH:D015499]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of renal absorption" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "inborn renal tubular transport disorder" EXACT [DOID:447]
synonym: "kidney tubular transport, inborn error" RELATED [MESH:D015499]
synonym: "kidney tubular transport, inborn errors" RELATED [MESH:D015499]
synonym: "renal absorption disease" EXACT [MONDO:design_pattern]
synonym: "renal tubular transport errors" RELATED [MESH:D015499]
synonym: "renal tubular transport, inborn error" RELATED [MESH:D015499]
xref: DOID:447 {source="MONDO:equivalentTo", source="EFO:1000647"}
xref: EFO:1000647 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:19728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015499 {source="DOID:447", source="MONDO:equivalentTo"}
xref: UMLS:C0035091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19728"}
is_a: MONDO:0005240 {source="DOID:447", source="EFO:1000647", source="MESH:D015499", source="MONDO:Redundant", source="MONDO:indirect"} ! kidney disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0070293 ! renal absorption
relationship: disease_has_basis_in_dysfunction_of UBERON:0009773 ! renal tubule
relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney
relationship: excluded_subClassOf MONDO:0019052 {source="MESH:D015499", source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of metabolism

[Term]
id: MONDO:0006511
name: obsolete developmental dysplasia of the hip
is_obsolete: true
replaced_by: MONDO:0000158

[Term]
id: MONDO:0006512
name: estrogen-receptor positive breast cancer
def: "A subtype of breast cancer that is estrogen-receptor positive" [EFO:1000649]
subset: otar {source="MONDO:OTAR"}
synonym: "ER+ breast cancer" EXACT []
synonym: "estrogen receptor positive breast cancer" EXACT []
synonym: "oestrogen receptor positive breast cancer" EXACT OMO:0003005 []
xref: DOID:0060075 {source="MONDO:equivalentTo"}
xref: EFO:1000649 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1843470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2938924 {source="MEDGEN:1843470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004989 {source="EFO:1000649"} ! breast carcinoma
is_a: MONDO:0006116 {source="https://orcid.org/0000-0002-4142-7153"} ! breast carcinoma by gene expression profile
intersection_of: MONDO:0007254 ! breast cancer
intersection_of: disease_has_feature NCIT:C15492 ! Estrogen Receptor Positive

[Term]
id: MONDO:0006513
name: estrogen-receptor negative breast cancer
def: "A subtype of breast cancer that is estrogen-receptor negative" [EFO:1000650]
subset: otar {source="MONDO:OTAR"}
synonym: "ER- breast cancer" EXACT []
xref: DOID:0060076 {source="MONDO:equivalentTo"}
xref: EFO:1000650 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0004989 {source="EFO:1000650"} ! breast carcinoma
is_a: MONDO:0006116 {source="https://orcid.org/0000-0002-4142-7153"} ! breast carcinoma by gene expression profile
intersection_of: MONDO:0007254 ! breast cancer
intersection_of: disease_has_feature NCIT:C15493 ! Estrogen Receptor Negative

[Term]
id: MONDO:0006514
name: obsolete recalcitrant atopic dermatitis
def: "Moderate to severe atopic dermatitis with allergic sensitisation." [EFO:1000651]
xref: PMID:25935106 {source="EFO:1000651"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeClinicalModifier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5854" xsd:anyURI
is_obsolete: true
consider: MONDO:0004980

[Term]
id: MONDO:0006515
name: acute pancreatitis
def: "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute pancreatitis (disorder) [ambiguous]" EXACT [DOID:2913]
synonym: "acute pancreatitis NOS" RELATED EXCLUDE [DOID:2913]
synonym: "pancreatitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:2913 {source="MONDO:equivalentTo"}
xref: EFO:1000652 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001735 {source="EFO:1000652", source="MONDO:otherHierarchy"}
xref: ICD10CM:K85 {source="DOID:2913"}
xref: ICD10CM:K85.9 {source="DOID:2913"}
xref: ICD9:577.0 {source="DOID:2913"}
xref: MEDGEN:7872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95437 {source="MONDO:equivalentTo", source="DOID:2913"}
xref: SCTID:155834006 {source="DOID:2913"}
xref: SCTID:197456007 {source="DOID:2913"}
xref: SCTID:197457003 {source="DOID:2913"}
xref: SCTID:197461009 {source="DOID:2913"}
xref: SCTID:266476001 {source="DOID:2913"}
xref: SCTID:39726008 {source="DOID:2913"}
xref: SCTID:7881005 {source="MONDO:equivalentTo"}
xref: UMLS:C0001339 {source="MEDGEN:7872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Acute_pancreatitis {source="EFO:1000652"}
is_a: MONDO:0004982 {source="DOID:2913", source="EFO:1000652", source="MESH:D019283", source="MONDO:Redundant", source="NCIT:C95437"} ! pancreatitis
intersection_of: MONDO:0004982 ! pancreatitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0006516
name: obsolete sarcopenia
def: "OBSOLETE. Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." [MESH:D055948]
comment: Reason of obsoletion: out of scope - MONDO:excludeBiologicalProcess. This term represent a natural aging process, and not a disease.
xref: ICD10CM:M62.84 {source="MONDO:obsoleteEquivalent"}
xref: MedDRA:10063024 {source="EFO:1000653"}
xref: MESH:D055948 {source="MONDO:obsoleteEquivalent", source="EFO:1000653"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeBiologicalProcess"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0006517
name: childhood malignant neoplasm
def: "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor)." [NCIT:C4005]
subset: otar {source="MONDO:OTAR"}
synonym: "childhood cancer" EXACT [NCIT:C4005]
synonym: "childhood malignant neoplasm" EXACT [NCIT:C4005]
synonym: "childhood neoplasm, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant childhood neoplasm" EXACT [NCIT:C4005]
synonym: "malignant childhood tumor" EXACT [NCIT:C4005]
synonym: "malignant childhood tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm" NARROW [NCIT:C4005]
synonym: "malignant paediatric neoplasm" EXACT OMO:0003005 []
synonym: "malignant paediatric tumour" EXACT OMO:0003005 []
synonym: "malignant pediatric neoplasm" EXACT [NCIT:C4005]
synonym: "malignant pediatric tumor" EXACT [NCIT:C4005]
synonym: "paediatric cancer" EXACT OMO:0003005 []
synonym: "pediatric cancer" EXACT [NCIT:C4005]
xref: EFO:1000654 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:82962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4005 {source="MONDO:equivalentTo"}
xref: UMLS:C0278704 {source="MEDGEN:82962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="EFO:1000654", source="MONDO:Redundant", source="NCIT:C4005"} ! cancer
is_a: MONDO:0021079 {source="MONDO:Redundant", source="NCIT:C4005"} ! childhood neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0006518
name: sporadic Creutzfeld Jacob disease
def: "Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." [EFO:1000656]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:1000656 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005357 {source="EFO:1000656"} ! Creutzfeldt Jacob disease

[Term]
id: MONDO:0006519
name: rectal cancer
def: "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C7418]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of rectum" EXACT [DOID:1993, MONDO:patterns/cancer]
synonym: "carcinoma of rectum" BROAD [DOID:1993]
synonym: "carcinoma of the rectum" BROAD [DOID:1993, NCIT:C9382]
synonym: "malignant neoplasm of rectum" EXACT [DOID:1993, ICD9CM:154.1, MONDO:patterns/cancer, NCIT:C7418]
synonym: "malignant neoplasm of the rectum" EXACT [NCIT:C7418]
synonym: "malignant rectal neoplasm" EXACT [NCIT:C7418]
synonym: "malignant rectal tumor" EXACT [DOID:1993, NCIT:C7418]
synonym: "malignant rectal tumour" EXACT OMO:0003005 []
synonym: "malignant rectum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant rectum tumor" EXACT [DOID:1993]
synonym: "malignant rectum tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of rectum" EXACT [NCIT:C7418]
synonym: "malignant tumor of the rectum" EXACT [NCIT:C7418]
synonym: "malignant tumour of rectum" EXACT OMO:0003005 []
synonym: "malignant tumour of the rectum" EXACT OMO:0003005 []
synonym: "rectal cancer" EXACT [DOID:1993]
synonym: "rectum cancer" EXACT [MONDO:patterns/location]
xref: DOID:1993 {source="MONDO:equivalentTo", source="EFO:1000657"}
xref: EFO:1000657 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C20 {source="DOID:1993"}
xref: ICD9:154.1 {source="DOID:1993", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:181763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012004 {source="DOID:1993", source="EFO:1000657"}
xref: NCIT:C7418 {source="DOID:1993", source="MONDO:equivalentTo"}
xref: NCIT:C9382 {source="DOID:1993"}
xref: SCTID:154466004 {source="DOID:1993"}
xref: SCTID:187761007 {source="DOID:1993"}
xref: SCTID:254582000 {source="DOID:1993"}
xref: SCTID:269545009 {source="DOID:1993"}
xref: SCTID:363351006 {source="DOID:1993", source="MONDO:equivalentTo"}
xref: SCTID:93984006 {source="DOID:1993"}
xref: UMLS:C0949022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181763"}
is_a: MONDO:0002165 {source="MONDO:Redundant", source="NCIT:C7418"} ! rectal neoplasm
is_a: MONDO:0005575 {source="DOID:1993", source="DOID:1993/inferred", source="EFO:1000657", source="MONDO:Redundant", source="NCIT:C7418"} ! colorectal cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001052 ! rectum
relationship: disease_has_location UBERON:0001052 {source="EFO:0000784"} ! rectum

[Term]
id: MONDO:0006520
name: Achenbach syndrome
def: "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days." [NCIT:C35467]
subset: otar {source="MONDO:OTAR"}
synonym: "Achenbach syndrome" EXACT [NCIT:C35467]
synonym: "paroxysmal hematoma of the finger" EXACT [DOID:6687]
xref: DOID:6687 {source="EFO:1000661", source="MONDO:equivalentTo"}
xref: EFO:1000661 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:99176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35467 {source="DOID:6687", source="MONDO:equivalentTo", source="NCIT:C35467"}
xref: PMID:22915534 {source="EFO:1000661"}
xref: SCTID:238824006 {source="DOID:6687", source="MONDO:equivalentTo"}
xref: UMLS:C0473563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99176"}
is_a: MONDO:0002254 {source="NCIT:C35467"} ! syndromic disease
is_a: MONDO:0005093 {source="DOID:6687", source="EFO:1000661"} ! skin disorder

[Term]
id: MONDO:0006521
name: acneiform dermatitis
def: "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Rash acneiform" EXACT [NCIT:C35277]
xref: DOID:4399 {source="MONDO:equivalentTo", source="EFO:1000662"}
xref: EFO:1000662 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:68607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35277 {source="DOID:4399", source="MONDO:equivalentTo"}
xref: UMLS:C0234894 {source="MEDGEN:68607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="DOID:4399", source="NCIT:C35277"} ! dermatitis

[Term]
id: MONDO:0006522
name: acquired keratosis
def: "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." [NCIT:P378]
synonym: "acquired hyperkeratosis" RELATED [DOID:13072]
synonym: "acquired keratoderma" EXACT [DOID:13072, NCIT:C34746]
synonym: "acquired keratoderma NOS" RELATED EXCLUDE [DOID:13072]
synonym: "acquired keratosis" EXACT [MONDO:patterns/acquired]
synonym: "keratoderma - acquired" EXACT [DOID:13072]
synonym: "keratoderma, acquired" EXACT [DOID:13072, ICD9CM:701.1]
xref: DOID:13072 {source="EFO:1000663", source="MONDO:equivalentTo"}
xref: ICD9:701.1 {source="DOID:13072", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:44016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34746 {source="DOID:13072", source="MONDO:equivalentTo"}
xref: SCTID:201053002 {source="DOID:13072"}
xref: SCTID:201064004 {source="DOID:13072"}
xref: SCTID:20637002 {source="DOID:13072"}
xref: SCTID:267805003 {source="DOID:13072"}
xref: SCTID:400166009 {source="DOID:13072", source="MONDO:equivalentTo"}
xref: UMLS:C0022581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44016"}
is_a: MONDO:0006566 {source="DOID:13072", source="EFO:1000663", source="MONDO:Redundant", source="NCIT:C34746"} ! keratosis
intersection_of: MONDO:0006566 ! keratosis
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0006523
name: acrodermatitis
def: "An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: CSP:4008-0032 {source="DOID:2722"}
xref: DOID:2722 {source="MONDO:equivalentTo", source="EFO:1000664"}
xref: EFO:1000664 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:686.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000169 {source="MONDO:equivalentTo", source="DOID:2722"}
xref: NCIT:C84532 {source="MONDO:equivalentTo", source="DOID:2722"}
xref: SCTID:8197001 {source="MONDO:equivalentTo", source="DOID:2722"}
xref: UMLS:C0001197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1301"}
is_a: MONDO:0002406 {source="DOID:2722", source="MESH:D000169", source="NCIT:C84532"} ! dermatitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5722/acrodermatitis" xsd:anyURI {source="GARD:0005722"}

[Term]
id: MONDO:0006524
name: acrodermatitis chronica atrophicans
def: "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." [DOID:0060344, http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans, http://www.dermis.net/dermisroot/en/35111/diagnose.htm]
subset: otar {source="MONDO:OTAR"}
synonym: "Herxheimer disease" EXACT [DOID:0060344]
synonym: "primary diffuse atrophy" EXACT [DOID:0060344]
xref: DOID:0060344 {source="MONDO:equivalentTo", source="EFO:1000665"}
xref: EFO:1000665 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L90.4 {source="MONDO:equivalentTo"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="DOID:0060344", source="MONDO:i2s"}
xref: MEDGEN:537873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:201079006 {source="DOID:0060344"}
xref: SCTID:201088002 {source="DOID:0060344"}
xref: SCTID:4340003 {source="MONDO:equivalentTo"}
xref: UMLS:C0263421 {source="MEDGEN:537873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006523 {source="DOID:0060344", source="EFO:1000665"} ! acrodermatitis

[Term]
id: MONDO:0006525
name: allergic contact dermatitis
def: "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic contact dermatitis" EXACT [DOID:3042, NCIT:C26998]
synonym: "allergic form of contact dermatitis" EXACT [MONDO:patterns/allergic_form_of_disease]
xref: DOID:3042 {source="MONDO:equivalentTo", source="EFO:1000668"}
xref: EFO:1000668 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L23 {source="MONDO:equivalentTo", source="DOID:3042"}
xref: ICD10CM:L23.9 {source="DOID:3042"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:102474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017449 {source="MONDO:equivalentTo", source="DOID:3042"}
xref: NCIT:C26998 {source="MONDO:equivalentTo", source="DOID:3042"}
xref: SCTID:200841005 {source="DOID:3042"}
xref: SCTID:238575004 {source="MONDO:equivalentTo", source="DOID:3042"}
xref: UMLS:C0162820 {source="MEDGEN:102474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005480 {source="DOID:3042", source="EFO:1000668", source="MESH:D017449", source="MONDO:Redundant", source="NCIT:C26998"} ! contact dermatitis
intersection_of: MONDO:0005480 ! contact dermatitis
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity

[Term]
id: MONDO:0006526
name: allergic urticaria
def: "A urticaria with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic form of urticaria" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic form of urticaria (disease)" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic urticaria (disease)" EXACT []
xref: DOID:10612 {source="MONDO:equivalentTo", source="EFO:1000669"}
xref: EFO:1000669 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L50.0 {source="DOID:10612", source="MONDO:equivalentTo"}
xref: ICD9:708.0 {source="DOID:10612", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156428000 {source="DOID:10612"}
xref: SCTID:201260002 {source="DOID:10612"}
xref: SCTID:40178009 {source="DOID:10612", source="MONDO:equivalentTo"}
xref: UMLS:C0149526 {source="MONDO:equivalentTo", source="MEDGEN:508394", source="MONDO:MEDGEN"}
xref: Wikipedia:Urticaria#Allergic_urticaria {source="EFO:1000669"}
is_a: MONDO:0005492 {source="DOID:10612", source="EFO:1000669", source="ICD10CM:L50.0", source="MONDO:Redundant"} ! urticaria
intersection_of: MONDO:0005492 ! urticaria
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity

[Term]
id: MONDO:0006527
name: anhidrosis
def: "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "absence of sweating" EXACT [DOID:11156]
synonym: "adiaphoresis" EXACT [DOID:11156, NCIT:C34385]
xref: DOID:11156 {source="EFO:1000670", source="MONDO:equivalentTo"}
xref: EFO:1000670 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L74.4 {source="MONDO:equivalentTo", source="DOID:11156"}
xref: ICD9:705.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11156"}
xref: MEDGEN:1550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007007 {source="DOID:11156", source="MONDO:directSiblingOf"}
xref: NCIT:C34385 {source="MONDO:otherHierarchy", source="DOID:11156"}
xref: SCTID:14662005 {source="DOID:11156"}
xref: SCTID:156414006 {source="DOID:11156"}
xref: SCTID:201189007 {source="DOID:11156"}
xref: SCTID:39659002 {source="MONDO:equivalentTo", source="DOID:11156"}
xref: UMLS:C0003028 {source="MEDGEN:1550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006615 {source="DOID:11156", source="EFO:1000670"} ! sweat gland disorder
relationship: disease_has_major_feature HP:0000970 ! Anhidrosis

[Term]
id: MONDO:0006528
name: bacterial exanthem
def: "A bacteria-induced exanthem" [EFO:1000671]
xref: DOID:0050487 {source="EFO:1000671", source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0006547 {source="DOID:0050487", source="EFO:1000671"} ! exanthem

[Term]
id: MONDO:0006529
name: obsolete bullous skin disease
is_obsolete: true
replaced_by: MONDO:0019337

[Term]
id: MONDO:0006530
name: cholesteatoma
def: "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cholesteatoma" EXACT [MONDO:ambiguous]
synonym: "cholesteatoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "congenital cholesteatoma (type)" RELATED [GARD:0010422]
synonym: "primary acquired cholesteatoma (type)" RELATED [GARD:0010422]
synonym: "secondary acquired cholesteatoma (type)" RELATED [GARD:0010422]
xref: DOID:869 {source="MONDO:equivalentTo", source="EFO:1000675"}
xref: EFO:1000675 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0009797 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H71.9 {source="DOID:869"}
xref: ICD10CM:H71.90 {source="DOID:869"}
xref: ICD9:385.30 {source="MONDO:equivalentTo", source="DOID:869", source="MONDO:i2s"}
xref: MEDGEN:3043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002781 {source="MONDO:equivalentTo", source="DOID:869"}
xref: NCIT:C2944 {source="MONDO:equivalentTo", source="DOID:869"}
xref: SCTID:155244001 {source="DOID:869"}
xref: SCTID:194338004 {source="DOID:869"}
xref: SCTID:267766007 {source="DOID:869"}
xref: SCTID:363668000 {source="MONDO:equivalentTo", source="DOID:869"}
xref: SCTID:575006 {source="DOID:869"}
xref: UMLS:C0008373 {source="MEDGEN:3043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006566 {source="DOID:869", source="EFO:1000675", source="MESH:D002781"} ! keratosis
property_value: IAO:0000589 "cholesteatoma (disease)" xsd:string

[Term]
id: MONDO:0006531
name: cholesteatoma of attic
def: "A cholesteatoma in the attic" [EFO:1000676]
subset: otar {source="MONDO:OTAR"}
xref: DOID:10963 {source="MONDO:equivalentTo", source="EFO:1000676"}
xref: EFO:1000676 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H71.0 {source="DOID:10963"}
xref: ICD10CM:H71.00 {source="DOID:10963"}
xref: ICD9:385.31 {source="DOID:10963", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:38708003 {source="DOID:10963", source="MONDO:equivalentTo"}
xref: UMLS:C0155489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509986"}
is_a: MONDO:0006533 {source="DOID:10963", source="EFO:1000676"} ! cholesteatoma of middle ear

[Term]
id: MONDO:0006532
name: cholesteatoma of external ear
def: "A cholesteatoma (disease) that involves the external ear." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cholesteatoma (disease) of external ear" EXACT []
synonym: "external canal cholesteatoma" EXACT [DOID:9462]
synonym: "external ear cholesteatoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:9462 {source="MONDO:equivalentTo", source="EFO:1000677"}
xref: EFO:1000677 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H60.4 {source="MONDO:equivalentTo", source="DOID:9462"}
xref: ICD10CM:H60.40 {source="DOID:9462"}
xref: ICD9:380.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9462"}
xref: MEDGEN:509952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:35247001 {source="MONDO:equivalentTo", source="DOID:9462"}
xref: UMLS:C0155398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509952"}
is_a: MONDO:0002776 {source="DOID:9462", source="ICD10CM:H60.4/inferred", source="MONDO:Redundant"} ! external ear disorder
is_a: MONDO:0006530 {source="DOID:9462", source="EFO:1000677", source="MONDO:Redundant"} ! cholesteatoma
intersection_of: MONDO:0006530 ! cholesteatoma
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0006533
name: cholesteatoma of middle ear
def: "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cholesteatoma" RELATED EXCLUDE [DOID:10964]
synonym: "cholesteatoma (disease) of middle ear" EXACT []
synonym: "cholesteatoma of middle ear" EXACT [DOID:10964, ICD9CM:385.32]
synonym: "cholesteatoma of middle ear and mastoid" EXACT [DOID:10964, ICD9CM:385.33]
synonym: "cholesteatoma of middle ear and/or mastoid" EXACT [DOID:10964]
synonym: "cholesteatoma of the middle ear" EXACT [DOID:10964, NCIT:C3654]
synonym: "Epidermosis of ear" EXACT [DOID:10964]
synonym: "Epidermosis of middle ear" EXACT [DOID:10964]
synonym: "middle ear cholesteatoma" EXACT [DOID:10964]
synonym: "middle ear cholesteatoma (disease)" EXACT [MONDO:patterns/location]
synonym: "unspecified cholesteatoma (morphologic abnormality)" EXACT [DOID:10964]
xref: DOID:10964 {source="MONDO:equivalentTo", source="EFO:1000678"}
xref: EFO:1000678 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H71 {source="DOID:10964", source="MONDO:equivalentTo"}
xref: ICD9:385.3 {source="DOID:10964"}
xref: ICD9:385.32 {source="DOID:10964"}
xref: ICD9:385.33 {source="DOID:10964", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018424 {source="DOID:10964", source="MONDO:equivalentTo"}
xref: NCIT:C3654 {source="DOID:10964", source="MONDO:equivalentTo"}
xref: SCTID:194339007 {source="DOID:10964", source="MONDO:equivalentTo"}
xref: SCTID:194340009 {source="DOID:10964"}
xref: SCTID:360584008 {source="DOID:10964"}
xref: SCTID:39911004 {source="DOID:10964"}
xref: SCTID:87688009 {source="DOID:10964"}
xref: UMLS:C0155490 {source="MEDGEN:57836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003276 {source="DOID:10964", source="MONDO:Redundant", source="NCIT:C3654"} ! middle ear disorder
is_a: MONDO:0006530 {source="DOID:10964", source="EFO:1000678", source="MESH:D018424", source="MONDO:Redundant", source="NCIT:C3654"} ! cholesteatoma
intersection_of: MONDO:0006530 ! cholesteatoma
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0006534
name: cholinergic urticaria
def: "A type of physical urticarias (or hives) that appears when a person is sweating." [EFO:1000679]
subset: otar {source="MONDO:OTAR"}
xref: DOID:14443 {source="MONDO:equivalentTo", source="EFO:1000679"}
xref: EFO:1000679 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L50.5 {source="MONDO:equivalentTo", source="DOID:14443"}
xref: ICD9:708.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14443"}
xref: MEDGEN:508939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:73098005 {source="MONDO:equivalentTo", source="DOID:14443"}
xref: UMLS:C0152230 {source="MEDGEN:508939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Cholinergic_urticaria {source="EFO:1000679"}
is_a: MONDO:0006599 {source="DOID:14443", source="EFO:1000679"} ! physical urticaria

[Term]
id: MONDO:0006535
name: obsolete cicatricial pemphigoid
is_obsolete: true
replaced_by: MONDO:0018746

[Term]
id: MONDO:0006536
name: congenital generalized lipodystrophy
def: "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues." [Wikipedia:Congenital_generalized_lipodystrophy]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="NORD:998", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beradinelli-Seip syndrome" RELATED EXCLUDE [DOID:0050585]
synonym: "congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 []
synonym: "congenital generalized lipodystrophy" EXACT [MONDO:ambiguous]
synonym: "congenital generalized lipodystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "familial generalised lipodystrophy" EXACT OMO:0003005 []
synonym: "familial generalized lipodystrophy" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hereditary generalised lipodystrophy" EXACT OMO:0003005 []
synonym: "hereditary generalized lipodystrophy" EXACT [MONDO:patterns/hereditary]
synonym: "lipodystrophy, congenital generalised" EXACT OMO:0003005 []
synonym: "lipodystrophy, congenital generalized" EXACT [OMIMPS:608594]
xref: DOID:0050585 {source="EFO:1000681", source="MONDO:equivalentTo"}
xref: EFO:1000681 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0009059 {source="MONDO:otherHierarchy"}
xref: MEDGEN:67438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200859 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:998 {source="MONDO:NORD"}
xref: OMIMPS:608594 {source="DOID:0050585", source="MONDO:equivalentTo"}
xref: SCTID:284449005 {source="MONDO:equivalentTo"}
xref: UMLS:C0221032 {source="MEDGEN:67438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006573 {source="DOID:0050585", source="DOID:0050585/inferred", source="EFO:1000681"} ! lipodystrophy
intersection_of: MONDO:0027766 ! generalized lipodystrophy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608594"} ! inherited
property_value: IAO:0000589 "congenital generalized lipodystrophy (disease)" xsd:string

[Term]
id: MONDO:0006537
name: conjunctival pigmentation
def: "Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." [EFO:1000682]
xref: DOID:12304 {source="EFO:1000682", source="MONDO:equivalentTo"}
xref: ICD10CM:H11.13 {source="DOID:12304"}
xref: ICD9:372.55 {source="DOID:12304", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193888007 {source="DOID:12304"}
xref: SCTID:267645009 {source="DOID:12304"}
xref: SCTID:66081003 {source="DOID:12304", source="MONDO:equivalentTo"}
xref: UMLS:C0155163 {source="MEDGEN:509823", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001331 {source="DOID:12304"} ! conjunctival deposit

[Term]
id: MONDO:0006538
name: obsolete dermatitis herpetiformis
is_obsolete: true
replaced_by: MONDO:0015614

[Term]
id: MONDO:0006539
name: diffuse lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy." [NCIT:C6504]
synonym: "diffuse lipomatosis" EXACT [NCIT:C6504]
xref: DOID:3923 {source="MONDO:equivalentTo", source="EFO:1000687"}
xref: MEDGEN:272546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6504 {source="MONDO:equivalentTo", source="DOID:3923", source="MONDO:exact-label-match"}
xref: UMLS:C1333298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272546"}
is_a: MONDO:0006574 {source="DOID:3923", source="EFO:1000687", source="NCIT:C6504"} ! lipomatosis

[Term]
id: MONDO:0006540
name: dyshidrosis
def: "A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)" [MESH:D011146]
subset: otar {source="MONDO:OTAR"}
synonym: "cheiropompholyx" EXACT [DOID:9230]
synonym: "dyshidrosis" EXACT [DOID:9230]
synonym: "DYSHYDROTIC eczema" EXACT [DOID:9230, MTH:261]
synonym: "pompholyx" RELATED [DOID:9230]
synonym: "vesicular eczema of hands and/or feet" EXACT [DOID:9230, MTH:NOCODE]
xref: DOID:9230 {source="MONDO:equivalentTo", source="EFO:1000688"}
xref: EFO:1000688 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:705.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9230"}
xref: MEDGEN:10851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011146 {source="MONDO:equivalentTo", source="DOID:9230"}
xref: SCTID:156416008 {source="DOID:9230"}
xref: SCTID:156417004 {source="DOID:9230"}
xref: SCTID:201198005 {source="DOID:9230"}
xref: SCTID:201199002 {source="DOID:9230"}
xref: SCTID:201200004 {source="DOID:9230"}
xref: SCTID:201202007 {source="DOID:9230"}
xref: SCTID:25560004 {source="DOID:9230"}
xref: SCTID:267865000 {source="DOID:9230"}
xref: SCTID:267866004 {source="DOID:9230"}
xref: SCTID:274946003 {source="DOID:9230"}
xref: SCTID:402567004 {source="MONDO:equivalentTo", source="DOID:9230"}
xref: UMLS:C0032633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10851"}
xref: Wikipedia:Dyshidrosis {source="EFO:1000688"}
is_a: MONDO:0006615 {source="DOID:9230", source="EFO:1000688"} ! sweat gland disorder

[Term]
id: MONDO:0006541
name: epidermolysis bullosa
def: "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." [https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa]
subset: gard_rare {source="GARD:6359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acantholysis bullosa" EXACT [DOID:2730]
synonym: "EB" RELATED ABBREVIATION [GARD:0006359]
synonym: "epidermolysis bullosa" EXACT [DOID:2730]
xref: DOID:2730 {source="EFO:1000690", source="MONDO:equivalentTo"}
xref: EFO:1000690 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6359 {source="MONDO:GARD"}
xref: ICD10CM:Q81 {source="DOID:2730", source="MONDO:equivalentTo"}
xref: ICD10CM:Q81.9 {source="DOID:2730"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:41832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004820 {source="DOID:2730", source="MONDO:equivalentTo"}
xref: NANDO:1200234 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100284 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201000 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C67383 {source="DOID:2730", source="MONDO:equivalentTo"}
xref: SCTID:205580008 {source="DOID:2730"}
xref: SCTID:61003004 {source="DOID:2730", source="MONDO:equivalentTo"}
xref: UMLS:C0014527 {source="MEDGEN:41832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Epidermolysis_bullosa {source="EFO:1000690"}
is_a: MONDO:0006617 {source="DOID:2730", source="EFO:1000690", source="MESH:D004820"} ! vesiculobullous skin disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa" xsd:anyURI {source="GARD:0006359"}

[Term]
id: MONDO:0006542
name: obsolete epidermolysis bullosa acquisita
def: "OBSOLETE. A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes." [NCIT:P378]
is_obsolete: true
replaced_by: MONDO:0018747

[Term]
id: MONDO:0006543
name: epidermolysis bullosa dystrophica
def: "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:2150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:303"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEB" EXACT ABBREVIATION [Orphanet:303]
synonym: "dermolytic epidermolysis bullosa" EXACT [Orphanet:303]
synonym: "dystrophic epidermolysis bullosa" RELATED EXCLUDE [DOID:4959]
synonym: "epidermolysis bullosa dystrophica" EXACT [Orphanet:303]
synonym: "epidermolysis bullosa, dermolytic" RELATED [GARD:0002150]
xref: DOID:4959 {source="EFO:1000692", source="MONDO:equivalentTo"}
xref: EFO:1000692 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2150 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:303", source="Orphanet:303/e", source="Orphanet:303/specific", source="DOID:4959"}
xref: icd11.foundation:1060981106 {source="Orphanet:303", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:37179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016108 {source="MONDO:equivalentTo", source="DOID:4959"}
xref: NCIT:C84691 {source="MONDO:equivalentTo", source="DOID:4959"}
xref: Orphanet:303 {source="MONDO:equivalentTo"}
xref: SCTID:205587006 {source="DOID:4959"}
xref: SCTID:254185007 {source="MONDO:equivalentTo", source="DOID:4959"}
xref: UMLS:C0079294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:37179"}
xref: Wikipedia:Epidermolysis_bullosa_dystrophica {source="EFO:1000692"}
is_a: MONDO:0019276 {source="Orphanet:303"} ! inherited epidermolysis bullosa
relationship: excluded_subClassOf MONDO:0006541 {source="DOID:4959", source="EFO:1000692", source="MESH:D016108", source="NCIT:C84691", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3856" xsd:anyURI

[Term]
id: MONDO:0006544
name: erythema infectiosum
def: "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fifth disease" EXACT [DOID:8743]
xref: DOID:8743 {source="EFO:1000693", source="MONDO:equivalentTo"}
xref: EFO:1000693 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B08.3 {source="DOID:8743"}
xref: ICD9:057.0 {source="DOID:8743", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016731 {source="DOID:8743", source="MONDO:equivalentTo"}
xref: NCIT:C84695 {source="DOID:8743", source="MONDO:equivalentTo"}
xref: SCTID:154344005 {source="DOID:8743"}
xref: SCTID:266193008 {source="DOID:8743"}
xref: SCTID:34730008 {source="DOID:8743", source="MONDO:equivalentTo"}
xref: UMLS:C0085273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43142"}
is_a: MONDO:0005108 {source="MESH:D016731/inferred", source="NCIT:C84695"} ! viral infectious disease
is_a: MONDO:0006619 {source="DOID:8743", source="EFO:1000693"} ! viral exanthem
relationship: disease_has_infectious_agent NCBITaxon:1511900 {source="MONDO:Wikidata"}

[Term]
id: MONDO:0006545
name: erythema multiforme
def: "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN)." [https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme]
subset: otar {source="MONDO:OTAR"}
synonym: "Dermatostomatitis, erythema multiforme type" RELATED [GARD:0006372]
synonym: "EM" RELATED ABBREVIATION [GARD:0006372]
synonym: "erythema multiforme bullosum" RELATED [GARD:0006372]
synonym: "erythema polymorphe, erythema multiforme type" RELATED [GARD:0006372]
synonym: "febrile mucocutaneous syndrome" RELATED [GARD:0006372]
synonym: "Herpes iris, erythema multiforme type" RELATED [GARD:0006372]
xref: DOID:0050185 {source="EFO:1000694", source="MONDO:equivalentTo"}
xref: EFO:1000694 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L49-L54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L51 {source="MONDO:equivalentTo"}
xref: ICD9:695.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:695.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004892 {source="MONDO:equivalentTo"}
xref: NCIT:C3024 {source="MONDO:equivalentTo"}
xref: SCTID:36715001 {source="MONDO:equivalentTo"}
xref: UMLS:C0014742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4527"}
is_a: MONDO:0005093 {source="DOID:0050185", source="EFO:1000694", source="MESH:D004892/inferred", source="NCIT:C3024/inferred"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme" xsd:anyURI {source="GARD:0006372"}

[Term]
id: MONDO:0006546
name: erythematosquamous dermatosis
def: "A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "erythematosquamous dermatosis" EXACT [DOID:9097, NCIT:C34591]
synonym: "Other erythematosquamous dermatosis" EXACT [DOID:9097]
xref: DOID:9097 {source="MONDO:equivalentTo", source="EFO:1000695"}
xref: EFO:1000695 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:690 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9097"}
xref: ICD9:690.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34591 {source="MONDO:equivalentTo", source="DOID:9097"}
xref: SCTID:200762004 {source="DOID:9097"}
xref: SCTID:200768000 {source="DOID:9097"}
xref: SCTID:54792008 {source="MONDO:equivalentTo", source="DOID:9097"}
xref: UMLS:C0014747 {source="MEDGEN:5014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:9097", source="EFO:1000695", source="NCIT:C34591/inferred"} ! skin disorder

[Term]
id: MONDO:0006547
name: exanthem
def: "Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cutaneous eruption" EXACT [NCIT:C39594]
synonym: "exanthem" EXACT [MONDO:ambiguous]
synonym: "exanthem (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "exanthema" EXACT [DOID:0050486]
synonym: "Rash" EXACT [DOID:0050486]
synonym: "skin eruption" EXACT [NCIT:C39594]
synonym: "skin Rash" EXACT [NCIT:C39594]
xref: DOID:0050486 {source="MONDO:equivalentTo", source="EFO:1000697"}
xref: EFO:1000697 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000988 {source="MONDO:otherHierarchy"}
xref: ICD10CM:R21 {source="DOID:0050486"}
xref: ICD9:782.1 {source="DOID:0050486", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005076 {source="DOID:0050486", source="MONDO:equivalentTo"}
xref: NCIT:C111884 {source="DOID:0050486", source="MONDO:otherHierarchy"}
xref: NCIT:C39594 {source="DOID:0050486", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:112625008 {source="DOID:0050486"}
xref: SCTID:139684003 {source="DOID:0050486"}
xref: SCTID:158230006 {source="DOID:0050486"}
xref: SCTID:158231005 {source="DOID:0050486"}
xref: SCTID:158234002 {source="DOID:0050486"}
xref: SCTID:1806006 {source="DOID:0050486"}
xref: SCTID:206860008 {source="DOID:0050486"}
xref: SCTID:206861007 {source="DOID:0050486"}
xref: SCTID:206864004 {source="DOID:0050486"}
xref: SCTID:267183006 {source="DOID:0050486"}
xref: SCTID:271807003 {source="DOID:0050486", source="MONDO:equivalentTo"}
xref: UMLS:C0015230 {source="MEDGEN:8732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Exanthem {source="EFO:1000697"}
is_a: MONDO:0005093 {source="DOID:0050486", source="EFO:1000697", source="MESH:D005076"} ! skin disorder
relationship: disease_has_feature HP:0000988 {source="MONDO:Wikidata"} ! Skin rash
property_value: IAO:0000589 "exanthem (disease)" xsd:string

[Term]
id: MONDO:0006548
name: facial dermatosis
def: "Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." [EFO:1000698]
xref: DOID:3134 {source="MONDO:equivalentTo", source="EFO:1000698"}
xref: MEDGEN:8760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005148 {source="DOID:3134", source="MONDO:equivalentTo"}
xref: UMLS:C0015456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8760"}
is_a: MONDO:0005093 {source="DOID:3134", source="EFO:1000698", source="MESH:D005148"} ! skin disorder

[Term]
id: MONDO:0006549
name: fibroepithelial polyp of the anus
def: "A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium." [NCIT:C4435]
subset: otar {source="MONDO:OTAR"}
synonym: "anal fibroepithelial polyp" EXACT [NCIT:C4435]
synonym: "anal fibrous polyp" EXACT [NCIT:C4435]
synonym: "anal tag" EXACT [NCIT:C4435]
synonym: "anus skin tag" EXACT [MONDO:patterns/location]
synonym: "fibroepithelial polyp of anus" EXACT [DOID:8170, NCIT:C5604]
synonym: "fibrous polyp of anus" EXACT [NCIT:C4435]
synonym: "fibrous polyp of the anus" EXACT [NCIT:C4435]
synonym: "skin tag of anus" RELATED []
xref: DOID:8170 {source="MONDO:equivalentTo", source="EFO:1000699"}
xref: EFO:1000699 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:87519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4435 {source="MONDO:equivalentTo"}
xref: NCIT:C5604 {source="DOID:8170", source="MONDO:otherHierarchy"}
xref: SCTID:195469007 {source="MONDO:equivalentTo"}
xref: UMLS:C0345903 {source="MEDGEN:87519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002519 {source="DOID:8170", source="MONDO:Redundant", source="NCIT:C4435/inferred"} ! anus disorder
is_a: MONDO:0005079 {source="EFO:1000699", source="MONDO:Redundant", source="NCIT:C4435/inferred"} ! polyp
is_a: MONDO:0060765 {source="NCIT:C4435"} ! fibroepithelial polyp
intersection_of: MONDO:0060765 ! fibroepithelial polyp
intersection_of: disease_has_location UBERON:0001245 ! anus
relationship: excluded_subClassOf MONDO:0004026 {source="DOID:8170", source="https://orcid.org/0000-0001-5208-3432"} ! skin tag

[Term]
id: MONDO:0006550
name: fibroepithelial polyp of urethra
def: "A benign polypoid lesion of mesodermal origin that arises from the urethra." [NCIT:P378]
synonym: "fibroepithelial polyp of the urethra" EXACT [NCIT:C6170]
synonym: "fibroepithelial polyp of urethra" EXACT [MONDO:design_pattern]
synonym: "skin tag of urethra" RELATED []
synonym: "urethra fibroepithelial polyp" EXACT [NCIT:C6170]
synonym: "urethra skin tag" EXACT [MONDO:patterns/location]
synonym: "urethral fibroepithelial polyp" EXACT [DOID:8108, NCIT:C6170]
xref: DOID:8108 {source="MONDO:equivalentTo", source="EFO:1000700"}
xref: MEDGEN:234460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6170 {source="DOID:8108", source="MONDO:equivalentTo"}
xref: UMLS:C1336884 {source="MEDGEN:234460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004184 {source="DOID:8108", source="MONDO:Redundant", source="NCIT:C6170/inferred"} ! urethral disorder
is_a: MONDO:0005079 {source="EFO:1000700", source="NCIT:C6170/inferred"} ! polyp
is_a: MONDO:0060765 {source="NCIT:C6170"} ! fibroepithelial polyp
intersection_of: MONDO:0060765 ! fibroepithelial polyp
intersection_of: disease_has_location UBERON:0000057 ! urethra
relationship: excluded_subClassOf MONDO:0004026 {source="DOID:8108", source="https://orcid.org/0000-0001-5208-3432"} ! skin tag

[Term]
id: MONDO:0006551
name: alopecia mucinosa
def: "A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma." [NCIT:C82859]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia Mucinosa" EXACT [NCIT:C82859]
synonym: "alopecia mucinosa" EXACT [DOID:9905]
synonym: "alopecia mucinosis" EXACT [NCIT:C82859]
synonym: "cutaneous focal mucinosis of hair follicle" EXACT [MONDO:design_pattern]
synonym: "follicular mucinosis" EXACT [DOID:9905]
synonym: "hair follicle cutaneous focal mucinosis" EXACT [MONDO:patterns/location]
xref: DOID:9905 {source="MONDO:equivalentTo", source="EFO:1000701"}
xref: EFO:1000701 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L65.2 {source="MONDO:equivalentTo", source="DOID:9905"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000507 {source="MONDO:equivalentTo", source="DOID:9905"}
xref: NCIT:C82859 {source="MONDO:equivalentTo", source="DOID:9905"}
xref: PMID:24350019 {source="EFO:1000701"}
xref: SCTID:201150001 {source="DOID:9905"}
xref: SCTID:27382006 {source="MONDO:equivalentTo", source="DOID:9905"}
xref: UMLS:C0002173 {source="MEDGEN:1419", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="MESH:D000507"} ! alopecia
is_a: MONDO:0006607 {source="DOID:9905", source="EFO:1000701", source="MESH:D000507", source="MONDO:Redundant"} ! sebaceous gland disorder
intersection_of: MONDO:0021653 ! cutaneous focal mucinosis
intersection_of: disease_has_location UBERON:0002073 ! hair follicle

[Term]
id: MONDO:0006552
name: folliculitis
def: "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dermatitis of hair follicle" EXACT [MONDO:design_pattern]
synonym: "hair follicle dermatitis" EXACT [MONDO:patterns/location]
xref: DOID:4409 {source="MONDO:equivalentTo", source="EFO:1000702"}
xref: EFO:1000702 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005499 {source="MONDO:equivalentTo", source="DOID:4409"}
xref: NCIT:C94408 {source="MONDO:equivalentTo", source="DOID:4409"}
xref: SCTID:13600006 {source="MONDO:equivalentTo", source="DOID:4409"}
xref: SCTID:156411003 {source="DOID:4409"}
xref: SCTID:201177005 {source="DOID:4409"}
xref: SCTID:201183008 {source="DOID:4409"}
xref: SCTID:267863007 {source="DOID:4409"}
xref: UMLS:C0016436 {source="MEDGEN:4752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Folliculitis {source="EFO:1000702"}
is_a: MONDO:0002917 {source="DOID:4409", source="MESH:D005499", source="MONDO:Redundant", source="NCIT:C94408/inferred"} ! disorder of pilosebaceous unit
intersection_of: MONDO:0002406 ! dermatitis
intersection_of: disease_has_inflammation_site UBERON:0002073 ! hair follicle

[Term]
id: MONDO:0006553
name: Fox-Fordyce disease
def: "A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants." [https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease]
synonym: "apocrine miliaria" RELATED [GARD:0006462]
synonym: "Fox Fordyce disease" EXACT [DOID:1381]
synonym: "Fox-Fordyce disease" EXACT [DOID:1381]
synonym: "Fox-Fordyce syndrome" RELATED [GARD:0006462]
synonym: "miliaria, apocrine" RELATED [GARD:0006462]
xref: DOID:1381 {source="MONDO:equivalentTo", source="EFO:1000703"}
xref: ICD10CM:L75.2 {source="MONDO:equivalentTo", source="DOID:1381"}
xref: ICD9:705.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1381"}
xref: MEDGEN:42092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005588 {source="MONDO:equivalentTo", source="DOID:1381"}
xref: NCIT:C84716 {source="MONDO:equivalentTo", source="DOID:1381"}
xref: SCTID:254682006 {source="DOID:1381"}
xref: SCTID:65038009 {source="MONDO:equivalentTo", source="DOID:1381"}
xref: UMLS:C0016632 {source="MEDGEN:42092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Fox-Fordyce_disease {source="EFO:1000703"}
is_a: MONDO:0006615 {source="DOID:1381", source="EFO:1000703", source="MESH:D005588/inferred"} ! sweat gland disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease" xsd:anyURI {source="GARD:0006462"}

[Term]
id: MONDO:0006554
name: granuloma annulare
def: "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." [https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare]
subset: otar {source="MONDO:OTAR"}
synonym: "granuloma annulare" EXACT [DOID:3777]
synonym: "Granulome annulare" EXACT [DOID:3777]
xref: DOID:3777 {source="MONDO:equivalentTo", source="EFO:1000704"}
xref: EFO:1000704 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L92.0 {source="DOID:3777", source="MONDO:equivalentTo"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:88319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016460 {source="DOID:3777", source="MONDO:equivalentTo"}
xref: NCIT:C3470 {source="DOID:3777", source="MONDO:equivalentTo"}
xref: SCTID:156368000 {source="DOID:3777"}
xref: SCTID:200953005 {source="DOID:3777"}
xref: SCTID:267850001 {source="DOID:3777"}
xref: SCTID:65508009 {source="DOID:3777", source="MONDO:equivalentTo"}
xref: UMLS:C0085074 {source="MEDGEN:88319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Granuloma_annulare {source="EFO:1000704"}
is_a: MONDO:0002406 {source="DOID:3777"} ! dermatitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare" xsd:anyURI {source="GARD:0006546"}

[Term]
id: MONDO:0006555
name: granulomatous dermatitis
def: "An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4397 {source="EFO:1000705", source="MONDO:equivalentTo"}
xref: EFO:1000705 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:196647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3505 {source="DOID:4397", source="MONDO:equivalentTo"}
xref: UMLS:C0743086 {source="MEDGEN:196647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="DOID:4397", source="NCIT:C3505"} ! dermatitis

[Term]
id: MONDO:0006556
name: hand dermatosis
def: "Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." [EFO:1000706]
comment: Editor note: TODO check definition
subset: otar {source="MONDO:OTAR"}
xref: DOID:3158 {source="EFO:1000706", source="MONDO:equivalentTo"}
xref: EFO:1000706 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006229 {source="DOID:3158", source="MONDO:equivalentTo"}
xref: UMLS:C0018567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6718"}
is_a: MONDO:0005093 {source="DOID:3158", source="EFO:1000706", source="MESH:D006229"} ! skin disorder
relationship: disease_has_location UBERON:0002398 ! manus

[Term]
id: MONDO:0006557
name: hemangioma of subcutaneous tissue
def: "A hemangioma arising from the subcutaneous soft tissues." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angioma of subcutaneous tissue" EXACT [NCIT:C8540]
synonym: "angioma of the subcutaneous tissue" EXACT [DOID:13081, NCIT:C8540]
synonym: "hemangioma of subcutaneous tissue" EXACT [NCIT:C8540]
synonym: "hemangioma of superficial fascia" EXACT [MONDO:design_pattern]
synonym: "hemangioma of the subcutaneous tissue" EXACT [NCIT:C8540]
synonym: "subcutaneous angioma" EXACT [NCIT:C8540]
synonym: "subcutaneous haemangioma" EXACT [DOID:13081]
synonym: "subcutaneous hemangioma" EXACT [NCIT:C8540]
synonym: "subcutaneous tissue angioma" EXACT [NCIT:C8540]
synonym: "subcutaneous tissue hemangioma" EXACT [NCIT:C8540]
synonym: "superficial fascia hemangioma" EXACT [MONDO:patterns/location]
xref: DOID:13081 {source="EFO:1000707", source="MONDO:equivalentTo"}
xref: MEDGEN:146343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8540 {source="DOID:13081", source="MONDO:equivalentTo"}
xref: SCTID:189195009 {source="DOID:13081"}
xref: SCTID:254823000 {source="DOID:13081"}
xref: SCTID:93473009 {source="DOID:13081", source="MONDO:equivalentTo"}
xref: UMLS:C0685200 {source="MEDGEN:146343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000652 {source="DOID:13081", source="MONDO:Redundant", source="MONDO:indirect"} ! integumentary system benign neoplasm
is_a: MONDO:0006500 {source="DOID:13081", source="EFO:1000707", source="MONDO:Redundant", source="NCIT:C8540"} ! hemangioma
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0011818 ! superficial fascia

[Term]
id: MONDO:0006558
name: pemphigoid gestationis
def: "A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever." [https://www.dermnetnz.org/topics/pemphigoid-gestationis/]
subset: gard_rare {source="GARD:6497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63275"}
subset: orphanet_rare {source="Orphanet:63275"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gestational herpes" EXACT DEPRECATED [DOID:14482]
synonym: "gestational pemphigoid" EXACT [Orphanet:63275]
synonym: "Herpes gestationis" EXACT DEPRECATED [DOID:14482]
synonym: "Herpes gestationis (disorder)" EXACT DEPRECATED [DOID:14482]
synonym: "Herpes gestationis NOS (disorder)" EXACT DEPRECATED [DOID:14482]
synonym: "Herpes gestationis unspecified (disorder)" EXACT DEPRECATED [DOID:14482]
synonym: "pemphigoid gestationis" EXACT [MONDO:0018970]
synonym: "pemphigus gestationis" RELATED [DOID:0040098]
xref: DOID:0040098 {source="MONDO:equivalentTo"}
xref: DOID:14482 {source="EFO:1000709", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:1000709 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6497 {source="MONDO:GARD"}
xref: ICD10CM:L12.8 {source="Orphanet:63275/ntbt", source="Orphanet:63275"}
xref: ICD10CM:O26.4 {source="DOID:14482", source="DOID:0040098"}
xref: ICD10CM:O26.40 {source="DOID:14482"}
xref: icd11.foundation:1405755890 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:63275"}
xref: ICD9:646.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10019939 {source="Orphanet:63275/e", source="Orphanet:63275"}
xref: MEDGEN:9233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006559 {source="Orphanet:63275/e", source="MONDO:equivalentTo", source="DOID:14482", source="Orphanet:63275", source="DOID:0040098"}
xref: NCIT:C85003 {source="MONDO:equivalentTo", source="DOID:14482"}
xref: Orphanet:63275 {source="MONDO:equivalentTo"}
xref: SCTID:156129002 {source="DOID:14482"}
xref: SCTID:199126002 {source="DOID:14482"}
xref: SCTID:199131000 {source="DOID:14482"}
xref: SCTID:270959002 {source="DOID:14482"}
xref: SCTID:86081009 {source="MONDO:equivalentTo", source="DOID:14482", source="DOID:0040098"}
xref: UMLS:C0019343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9233"}
xref: Wikipedia:Gestational_pemphigoid {source="EFO:1000709"}
is_a: MONDO:0006594 {source="https://orcid.org/0000-0002-6601-2165"} ! pemphigus
is_a: MONDO:0006617 {source="DOID:14482", source="EFO:1000709", source="MESH:D006559", source="MONDO:indirect"} ! vesiculobullous skin disease
is_a: MONDO:0007179 {source="DOID:0040098", source="Orphanet:63275/inferred"} ! autoimmune disease
is_a: MONDO:0024575 {source="MESH:D006559", source="https://orcid.org/0000-0002-6601-2165"} ! pregnancy disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis" xsd:anyURI {source="GARD:0006497"}

[Term]
id: MONDO:0006559
name: hidradenitis suppurativa
def: "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident." [MESH:D017497]
subset: otar {source="MONDO:OTAR"}
synonym: "acne inversa" EXACT [https://orcid.org/0000-0002-6601-2165, Orphanet:387]
synonym: "acne inversa, familial" NARROW [DOID:2280]
synonym: "ectopic acne" EXACT [Orphanet:387]
synonym: "fox den disease" EXACT [Orphanet:387]
synonym: "hidradenitis suppurativa" EXACT [DOID:2280]
synonym: "pyoderma fistulans significa" EXACT [Orphanet:387]
synonym: "verneuil disease" EXACT [Orphanet:387]
xref: DOID:2280 {source="MONDO:equivalentTo", source="EFO:1000710"}
xref: EFO:1000710 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L73.2 {source="MONDO:equivalentTo", source="DOID:2280"}
xref: MEDGEN:57993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017497 {source="MONDO:equivalentTo", source="DOID:2280"}
xref: Orphanet:387 {source="MONDO:equivalentObsolete"}
xref: SCTID:156417004 {source="DOID:2280"}
xref: SCTID:201204008 {source="DOID:2280"}
xref: SCTID:267866004 {source="DOID:2280"}
xref: SCTID:59393003 {source="MONDO:equivalentTo", source="DOID:2280"}
xref: UMLS:C0162836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57993"}
xref: Wikipedia:Hidradenitis_suppurativa {source="EFO:1000710"}
is_a: MONDO:0002260 {source="DOID:2280", source="MESH:D017497"} ! hidradenitis

[Term]
id: MONDO:0006560
name: obsolete hypohidrosis
def: "OBSOLETE. Reduced sweating. Causes include burns, dehydration, radiation, and leprosy." [NCIT:P378]
synonym: "Oligohidrosis" EXACT [DOID:11155]
xref: DOID:11155 {source="MONDO:obsoleteEquivalent", source="EFO:1000712"}
xref: HP:0000966
xref: ICD10CM:L74.4 {source="DOID:11155", source="MONDO:directSiblingOf"}
xref: MESH:D007007 {source="MONDO:obsoleteEquivalent", source="DOID:11155"}
xref: NCIT:C34718 {source="MONDO:otherHierarchy", source="DOID:11155"}
xref: SCTID:201189007 {source="DOID:11155"}
xref: SCTID:45004005 {source="MONDO:obsoleteEquivalent", source="DOID:11155"}
xref: Wikipedia:Hypodidrosis {source="EFO:1000712"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: HP:0000966

[Term]
id: MONDO:0006561
name: eyelid hypopigmentation
def: "Under-production of pigment in the eyelid." [EFO:1000713]
synonym: "hypopigmentation of eyelid" EXACT []
xref: DOID:11668 {source="MONDO:equivalentTo", source="EFO:1000713"}
xref: ICD10CM:H02.73 {source="DOID:11668"}
xref: ICD9:374.53 {source="DOID:11668", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:193958004 {source="DOID:11668"}
xref: SCTID:68210006 {source="DOID:11668", source="MONDO:equivalentTo"}
xref: UMLS:C0155212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509852"}
is_a: MONDO:0003382 {source="DOID:11668/inferred"} ! eyelid disorder
relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11668", source="https://orcid.org/0000-0001-5208-3432"} ! eyelid degenerative disorder

[Term]
id: MONDO:0006562
name: obsolete incontinentia pigmenti achromians
synonym: "incontinentia pigmenti achromians syndrome" EXACT []
synonym: "incontinentia pigmenti syndrome" RELATED []
xref: MESH:D010859 {source="DOID:3156", source="MONDO:directSiblingOf"}
xref: NCIT:C7582 {source="DOID:3156", source="MONDO:relatedTo"}
xref: SCTID:218358001 {source="DOID:3156", source="MONDO:obsoleteEquivalent"}
xref: SCTID:254202001 {source="DOID:3156"}
xref: SCTID:254816001 {source="DOID:3156"}
xref: SCTID:367520004 {source="DOID:3156"}
xref: SCTID:48543002 {source="DOID:3156"}
xref: SCTID:806001 {source="DOID:3156"}
is_obsolete: true
replaced_by: MONDO:0010302

[Term]
id: MONDO:0006563
name: inverted follicular keratosis
def: "Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inverted folicular keratosis" EXACT [DOID:6945]
synonym: "inverted follicular keratosis" EXACT [DOID:6945, NCIT:C9007]
xref: DOID:6945 {source="EFO:1000717", source="MONDO:equivalentTo"}
xref: EFO:1000717 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:264.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9007 {source="DOID:6945", source="MONDO:equivalentTo"}
xref: SCTID:15112009 {source="DOID:6945"}
xref: SCTID:201096007 {source="DOID:6945"}
xref: SCTID:394728005 {source="DOID:6945", source="MONDO:equivalentTo"}
xref: UMLS:C0334019 {source="MEDGEN:87190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Inverted_follicular_keratosis {source="EFO:1000717"}
is_a: MONDO:0008420 {source="DOID:6945", source="EFO:1000717", source="NCIT:C9007"} ! seborrheic keratosis

[Term]
id: MONDO:0006564
name: irritant dermatitis
def: "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "irritant contact dermatitis" EXACT [DOID:2772, NCIT:C27151]
synonym: "primary irritant dermatitis" EXACT [DOID:2772]
xref: DOID:2772 {source="EFO:1000718", source="MONDO:equivalentTo"}
xref: EFO:1000718 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L24 {source="DOID:2772"}
xref: ICD10CM:L24.9 {source="DOID:2772"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017453 {source="DOID:2772", source="MONDO:equivalentTo"}
xref: NCIT:C27151 {source="DOID:2772", source="MONDO:equivalentTo"}
xref: SCTID:110979008 {source="DOID:2772", source="MONDO:equivalentTo"}
xref: SCTID:200850007 {source="DOID:2772"}
xref: UMLS:C0162823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56513"}
is_a: MONDO:0005480 {source="DOID:2772", source="EFO:1000718", source="MESH:D017453", source="NCIT:C27151"} ! contact dermatitis

[Term]
id: MONDO:0006565
name: juvenile dermatitis herpetiformis
def: "Dermatitis herpetiformis in children" [EFO:1000719]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:8507 {source="EFO:1000719", source="MONDO:equivalentTo"}
xref: ICD10CM:L12.2 {source="DOID:8507"}
xref: ICD9:694.2 {source="DOID:8507", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:200900001 {source="DOID:8507"}
xref: SCTID:267799009 {source="DOID:8507"}
xref: SCTID:5906000 {source="DOID:8507", source="MONDO:equivalentTo"}
xref: UMLS:C0152092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508884"}
is_a: MONDO:0015614 {source="DOID:8507", source="EFO:1000719"} ! dermatitis herpetiformis

[Term]
id: MONDO:0006566
name: keratosis
def: "A skin disorder consisting of hypertrophy of the stratum corneum of the skin." [NCIT:C34745]
subset: otar {source="MONDO:OTAR"}
synonym: "keratoderma" EXACT [NCIT:C34745]
xref: DOID:161 {source="MONDO:equivalentTo", source="EFO:1000720"}
xref: EFO:1000720 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:9625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007642 {source="DOID:161", source="MONDO:equivalentTo"}
xref: NCIT:C34745 {source="MONDO:equivalentTo"}
xref: NCIT:C34747 {source="DOID:161", source="MONDO:otherHierarchy"}
xref: SCTID:254666005 {source="DOID:161", source="MONDO:equivalentTo"}
xref: UMLS:C0022593 {source="MEDGEN:9625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:161", source="EFO:1000720", source="MESH:D007642", source="NCIT:C34745/inferred"} ! skin disorder
relationship: disease_disrupts GO:0031424 ! keratinization
relationship: disease_has_location UBERON:0002027 ! stratum corneum of epidermis

[Term]
id: MONDO:0006567
name: kernicterus due to isoimmunization
def: "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "kernicterus - due to isoimm." EXACT [DOID:12043]
synonym: "kernicterus due to isoimmunization of fetus or newborn" EXACT [DOID:12043, ICD9CM:773.4]
synonym: "kernicterus due to isoimmunization of foetus or newborn" EXACT OMO:0003005 []
synonym: "kernicterus related to isoimmunization" EXACT [NCIT:C101270]
xref: DOID:12043 {source="MONDO:equivalentTo", source="EFO:1000721"}
xref: ICD10CM:P57.0 {source="MONDO:equivalentTo", source="DOID:12043"}
xref: ICD9:773.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12043"}
xref: MEDGEN:542597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C101270 {source="MONDO:equivalentTo", source="DOID:12043"}
xref: SCTID:157135006 {source="DOID:12043"}
xref: SCTID:206433007 {source="DOID:12043"}
xref: SCTID:268880009 {source="DOID:12043"}
xref: SCTID:359007 {source="MONDO:equivalentTo", source="DOID:12043"}
xref: UMLS:C0270204 {source="MEDGEN:542597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001240 {source="DOID:12043"} ! neonatal anemia
is_a: MONDO:0018477 {source="NCIT:C101270"} ! bilirubin encephalopathy

[Term]
id: MONDO:0006568
name: obsolete Kimura disease
is_obsolete: true
replaced_by: MONDO:0018830

[Term]
id: MONDO:0006569
name: leg dermatosis
def: "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" [MESH:D007868]
xref: DOID:3142 {source="MONDO:equivalentTo", source="EFO:1000723"}
xref: MEDGEN:9700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007868 {source="MONDO:equivalentTo", source="DOID:3142"}
xref: UMLS:C0023219 {source="MEDGEN:9700", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:3142", source="EFO:1000723", source="MESH:D007868"} ! skin disorder

[Term]
id: MONDO:0006570
name: lichen disease
def: "A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." [EFO:1000724]
subset: otar {source="MONDO:OTAR"}
synonym: "lichen" EXACT []
synonym: "lichen condition" RELATED []
xref: DOID:8574 {source="MONDO:equivalentTo", source="EFO:1000724"}
xref: EFO:1000724 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L28.0 {source="DOID:8574"}
xref: ICD9:697 {source="DOID:8574"}
xref: ICD9:697.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:697.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8574"}
xref: MEDGEN:507920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156376003 {source="DOID:8574"}
xref: SCTID:156379005 {source="DOID:8574"}
xref: SCTID:200998004 {source="DOID:8574"}
xref: SCTID:201010002 {source="DOID:8574"}
xref: SCTID:88996004 {source="MONDO:equivalentTo", source="DOID:8574"}
xref: UMLS:C0023643 {source="MEDGEN:507920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:8574", source="EFO:1000724"} ! skin disorder

[Term]
id: MONDO:0006571
name: lichen nitidus
def: "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." [MESH:D017513]
synonym: "Pinkus' disease" EXACT [DOID:8573]
xref: DOID:8573 {source="MONDO:equivalentTo", source="EFO:1000725"}
xref: ICD10CM:L44.1 {source="MONDO:equivalentTo", source="DOID:8573"}
xref: ICD9:697.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8573"}
xref: MEDGEN:58196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017513 {source="MONDO:equivalentTo", source="DOID:8573"}
xref: SCTID:25147002 {source="MONDO:relatedTo", source="DOID:8573"}
xref: SCTID:41890004 {source="MONDO:equivalentTo", source="DOID:8573"}
xref: UMLS:C0162849 {source="MEDGEN:58196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Lichen_nitidus {source="EFO:1000725"}
is_a: MONDO:0006570 {source="DOID:8573", source="EFO:1000725"} ! lichen disease

[Term]
id: MONDO:0006572
name: lichen planus
def: "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "lichen ruber planus" EXACT [DOID:9201]
synonym: "lichen, ruber planus" EXACT [DOID:9201]
synonym: "ruber planus" RELATED []
xref: DOID:9201 {source="MONDO:equivalentTo", source="EFO:1000726"}
xref: EFO:1000726 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L43 {source="MONDO:equivalentTo", source="DOID:9201"}
xref: ICD10CM:L43.9 {source="DOID:9201"}
xref: ICD9:697.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9201"}
xref: MEDGEN:9753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008010 {source="MONDO:equivalentTo", source="DOID:9201"}
xref: NCIT:C3189 {source="MONDO:equivalentTo", source="DOID:9201"}
xref: SCTID:156377007 {source="DOID:9201"}
xref: SCTID:201004002 {source="DOID:9201"}
xref: SCTID:4776004 {source="MONDO:equivalentTo", source="DOID:9201"}
xref: UMLS:C0023646 {source="MEDGEN:9753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="NCIT:C3189"} ! dermatitis
is_a: MONDO:0006570 {source="DOID:9201", source="EFO:1000726"} ! lichen disease

[Term]
id: MONDO:0006573
name: lipodystrophy
def: "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "lipodsystrophic syndrome" EXACT [NCIT:C97093]
synonym: "lipodsystrophic syndromes" EXACT [NCIT:C97093]
synonym: "lipodystrophy" EXACT [MONDO:ambiguous]
synonym: "lipodystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:811 {source="EFO:1000727", source="MONDO:equivalentTo"}
xref: EFO:1000727 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0009125 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E88.1 {source="DOID:811"}
xref: ICD9:272.6 {source="DOID:811", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008060 {source="DOID:811", source="MONDO:equivalentTo"}
xref: NANDO:1200858 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100147 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200404 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C97093 {source="DOID:811", source="MONDO:equivalentTo"}
xref: SCTID:190789006 {source="DOID:811"}
xref: SCTID:190790002 {source="DOID:811"}
xref: SCTID:71325002 {source="DOID:811", source="MONDO:equivalentTo"}
xref: UMLS:C0023787 {source="MEDGEN:6111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Lipodystrophy {source="EFO:1000727"}
is_a: MONDO:0005066 {source="MESH:D008060/inferred", source="NCIT:C97093"} ! metabolic disease
is_a: MONDO:0005093 {source="DOID:811", source="EFO:1000727", source="MESH:D008060/inferred"} ! skin disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_major_feature HP:0009125 ! Lipodystrophy
property_value: IAO:0000589 "lipodystrophy (disease)" xsd:string

[Term]
id: MONDO:0006574
name: lipomatosis
def: "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." [NCIT:C3193]
subset: otar {source="MONDO:OTAR"}
synonym: "Launois-Bensaude syndrome" EXACT [NCIT:C3193]
synonym: "lipomatosis" EXACT [NCIT:C3193]
synonym: "Madelung disease" EXACT [NCIT:C3193]
synonym: "Madelung's disease" EXACT [NCIT:C3193]
xref: DOID:3153 {source="EFO:1000728", source="MONDO:equivalentTo"}
xref: EFO:1000728 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E88.2 {source="DOID:3153"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008068 {source="MONDO:equivalentTo", source="DOID:3153"}
xref: NCIT:C3193 {source="MONDO:equivalentTo"}
xref: SCTID:37095002 {source="DOID:3153"}
xref: SCTID:402693001 {source="MONDO:equivalentTo", source="DOID:3153"}
xref: UMLS:C0023801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9781"}
xref: Wikipedia:Lipomatosis {source="EFO:1000728"}
is_a: MONDO:0044983 {source="NCIT:C3193"} ! benign lipomatous neoplasm
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:3153", source="EFO:1000728", source="MESH:D008068", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0006575
name: obsolete loiasis
is_obsolete: true
replaced_by: MONDO:0016566

[Term]
id: MONDO:0006576
name: Ludwig's angina
def: "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" [MESH:D008158]
synonym: "cellulitis (disease) of mouth floor" EXACT []
synonym: "cellulitis of floor of mouth" EXACT [DOID:4558]
synonym: "Ludwig angina" EXACT [DOID:4558]
synonym: "mouth floor cellulitis (disease)" EXACT [MONDO:patterns/location]
xref: DOID:4558 {source="MONDO:equivalentTo", source="EFO:1000730"}
xref: ICD9:528.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:44205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008158 {source="DOID:4558", source="MONDO:equivalentTo"}
xref: SCTID:196542004 {source="DOID:4558", source="MONDO:equivalentTo"}
xref: SCTID:54572003 {source="DOID:4558"}
xref: UMLS:C0024081 {source="MEDGEN:44205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Ludwig's_angina {source="EFO:1000730"}
is_a: MONDO:0005230 {source="DOID:4558", source="EFO:1000730", source="MONDO:Redundant"} ! cellulitis
is_a: MONDO:0006858 {source="MESH:D008158", source="MONDO:Redundant"} ! mouth disorder
intersection_of: MONDO:0005230 ! cellulitis
intersection_of: disease_has_location UBERON:0003679 ! mouth floor

[Term]
id: MONDO:0006577
name: maxillary sinus cholesteatoma
def: "A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment." [NCIT:P378]
synonym: "cholesteatoma (disease) of maxillary sinus" EXACT []
synonym: "maxillary sinus cholesteatoma (disease)" EXACT [MONDO:patterns/location]
xref: DOID:867 {source="MONDO:equivalentTo", source="EFO:1000731"}
xref: MEDGEN:277346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35868 {source="DOID:867", source="MONDO:equivalentTo"}
xref: UMLS:C1334644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277346"}
is_a: MONDO:0001735 {source="DOID:867", source="MONDO:Redundant", source="NCIT:C35868/inferred"} ! paranasal sinus disorder
is_a: MONDO:0006530 {source="DOID:867", source="EFO:1000731", source="MONDO:Redundant", source="NCIT:C35868"} ! cholesteatoma
intersection_of: MONDO:0006530 ! cholesteatoma
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0006578
name: mediastinal lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum." [NCIT:C27488]
subset: otar {source="MONDO:OTAR"}
synonym: "mediastinal lipomatosis" EXACT [NCIT:C27488]
xref: DOID:3926 {source="MONDO:equivalentTo", source="EFO:1000732"}
xref: EFO:1000732 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:233682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27488 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3926"}
xref: UMLS:C1334662 {source="MEDGEN:233682", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006574 {source="DOID:3926", source="EFO:1000732", source="NCIT:C27488"} ! lipomatosis

[Term]
id: MONDO:0006579
name: melanoacanthoma
def: "A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11684 {source="MONDO:equivalentTo", source="EFO:1000733"}
xref: EFO:1000733 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:272110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27548 {source="MONDO:equivalentTo", source="DOID:11684"}
xref: SCTID:201096007 {source="DOID:11684"}
xref: SCTID:394727000 {source="MONDO:equivalentTo", source="DOID:11684"}
xref: UMLS:C1321683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272110"}
xref: Wikipedia:Melanocanthoma {source="EFO:1000733"}
is_a: MONDO:0008420 {source="DOID:11684", source="EFO:1000733", source="NCIT:C27548"} ! seborrheic keratosis

[Term]
id: MONDO:0006580
name: miliaria
def: "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." [NCIT:P378]
synonym: "heat rash" EXACT [NCIT:C34820]
synonym: "prickly heat" EXACT [NCIT:C34820]
xref: DOID:1382 {source="MONDO:equivalentTo", source="EFO:1000734"}
xref: ICD10CM:L74.3 {source="DOID:1382"}
xref: MEDGEN:44443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008883 {source="MONDO:equivalentTo", source="DOID:1382"}
xref: NCIT:C34820 {source="MONDO:equivalentTo", source="DOID:1382"}
xref: SCTID:201196009 {source="DOID:1382"}
xref: SCTID:201411009 {source="DOID:1382"}
xref: SCTID:63951004 {source="MONDO:equivalentTo", source="DOID:1382"}
xref: UMLS:C0026113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44443"}
xref: Wikipedia:Miliaria {source="EFO:1000734"}
is_a: MONDO:0002254 {source="NCIT:C34820"} ! syndromic disease
is_a: MONDO:0006615 {source="DOID:1382", source="EFO:1000734", source="MESH:D008883"} ! sweat gland disorder

[Term]
id: MONDO:0006581
name: miliaria rubra
def: "Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." [EFO:1000735]
subset: otar {source="MONDO:OTAR"}
synonym: "miliaria crystallina" RELATED [DOID:11153]
synonym: "prickly heat - miliaria" EXACT [DOID:11153]
synonym: "sudamina" EXACT [DOID:11153]
xref: DOID:11153 {source="MONDO:equivalentTo", source="EFO:1000735"}
xref: EFO:1000735 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L74.0 {source="DOID:11153"}
xref: ICD10CM:L74.2 {source="DOID:11153"}
xref: ICD9:705.1 {source="DOID:11153"}
xref: MEDGEN:57902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008883 {source="DOID:11153"}
xref: SCTID:156415007 {source="DOID:11153"}
xref: SCTID:201190003 {source="DOID:11153"}
xref: SCTID:201194007 {source="DOID:11153"}
xref: SCTID:201197000 {source="DOID:11153"}
xref: SCTID:267813002 {source="DOID:11153"}
xref: SCTID:44279002 {source="MONDO:equivalentTo", source="DOID:11153"}
xref: SCTID:72658003 {source="DOID:11153"}
xref: UMLS:C0162423 {source="MEDGEN:57902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006580 {source="DOID:11153", source="EFO:1000735"} ! miliaria

[Term]
id: MONDO:0006582
name: mongolian spot
def: "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot." [Wikipedia:Mongolian_spot]
synonym: "blue sacral spot" EXACT [NCIT:C3945]
synonym: "congenital dermal melanocytosis" EXACT [Wikipedia:Mongolian_spot]
synonym: "Mongolian macula" EXACT [DOID:4702, NCIT:C3945]
xref: DOID:4702 {source="MONDO:equivalentTo", source="EFO:1000736"}
xref: MEDGEN:75591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049328 {source="MONDO:equivalentTo", source="DOID:4702"}
xref: NCIT:C3945 {source="MONDO:equivalentTo", source="DOID:4702"}
xref: SCTID:157017000 {source="DOID:4702"}
xref: SCTID:268355000 {source="DOID:4702"}
xref: SCTID:40467008 {source="MONDO:equivalentTo", source="DOID:4702"}
xref: UMLS:C0265985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75591"}
xref: Wikipedia:Mongolian_spot {source="EFO:1000736"}
is_a: MONDO:0005093 {source="DOID:4702", source="EFO:1000736", source="NCIT:C3945/inferred"} ! skin disorder
relationship: disease_causes_dysfunction_of CL:0000148 ! melanocyte

[Term]
id: MONDO:0006583
name: necrobiosis lipoidica
def: "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring." [https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica]
subset: gard_rare {source="GARD:13040", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:542592"}
subset: orphanet_rare {source="Orphanet:542592"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "necrobiosis lipoidica" EXACT [DOID:3486]
synonym: "necrobiosis lipoidica diabeticorum (formerly)" RELATED DEPRECATED [GARD:0013040]
xref: DOID:3486 {source="EFO:1000738", source="MONDO:equivalentTo"}
xref: EFO:1000738 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13040 {source="MONDO:GARD"}
xref: ICD10CM:L92.1 {source="GARD:0013040"}
xref: icd11.foundation:655608138 {source="MONDO:equivalentTo", source="Orphanet:542592"}
xref: MEDGEN:45021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009335 {source="DOID:3486", source="MONDO:equivalentTo"}
xref: NCIT:C34840 {source="DOID:3486", source="MONDO:equivalentTo"}
xref: Orphanet:542592 {source="MONDO:equivalentTo"}
xref: SCTID:156394009 {source="DOID:3486"}
xref: SCTID:201317009 {source="DOID:3486"}
xref: SCTID:201319007 {source="DOID:3486"}
xref: SCTID:9418005 {source="DOID:3486", source="MONDO:equivalentTo"}
xref: UMLS:C0027538 {source="MEDGEN:45021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Necrobiosis_lipoidica {source="EFO:1000738"}
is_a: MONDO:0021154 {source="Orphanet:542592"} ! dermis disorder
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:3486", source="EFO:1000738", source="MESH:D009335/inferred", source="NCIT:C34840/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica" xsd:anyURI {source="GARD:0013040"}

[Term]
id: MONDO:0006584
name: obsolete neonatal jaundice
def: "OBSOLETE. Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." [NCIT:P378]
comment: Reason: is a phenotype and not a disease. Term to consider: neonatal jaundice due to ABO incompatibility
synonym: "neonatal hyperbilirubinemia" EXACT [DOID:2383]
synonym: "neonatal icterus" EXACT [DOID:2383]
xref: DOID:2383 {source="EFO:1000739", source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:P59.9 {source="DOID:2383"}
xref: ICD9:774.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:774.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D007567 {source="MONDO:obsoleteEquivalent", source="DOID:2383"}
xref: NCIT:C99246 {source="MONDO:otherHierarchy", source="DOID:2383"}
xref: SCTID:111470007 {source="DOID:2383"}
xref: SCTID:206474007 {source="DOID:2383"}
xref: SCTID:276549000 {source="DOID:2383"}
xref: SCTID:299968002 {source="DOID:2383"}
xref: SCTID:30235009 {source="DOID:2383"}
xref: SCTID:31482007 {source="DOID:2383"}
xref: SCTID:387712008 {source="MONDO:obsoleteEquivalent", source="DOID:2383"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4480" xsd:anyURI
is_obsolete: true
consider: MONDO:0700040

[Term]
id: MONDO:0006585
name: neurodermatitis
def: "Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "lichen simplex Chronicus" EXACT [NCIT:C111963]
xref: DOID:3309 {source="EFO:1000740", source="MONDO:equivalentTo"}
xref: EFO:1000740 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:45056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009450 {source="MONDO:equivalentTo", source="DOID:3309"}
xref: NCIT:C111963 {source="MONDO:equivalentTo", source="DOID:3309"}
xref: SCTID:156383005 {source="DOID:3309"}
xref: SCTID:267854005 {source="MONDO:equivalentTo", source="DOID:3309"}
xref: UMLS:C0027822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45056"}
is_a: MONDO:0002406 {source="DOID:3309", source="MESH:D009450", source="NCIT:C111963"} ! dermatitis

[Term]
id: MONDO:0006586
name: neurotic excoriation
def: "A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." [EFO:1000741]
synonym: "dermatitis artefacta" EXACT [DOID:9165]
synonym: "dermatitis factitia" EXACT [DOID:9165]
synonym: "dermatitis factitia [artefacta]" EXACT [DOID:9165, ICD9CM:698.4]
synonym: "dermatitis ficta" EXACT [DOID:9165]
synonym: "factitious skin disease" EXACT [DOID:9165]
xref: DOID:9165 {source="MONDO:equivalentTo", source="EFO:1000741"}
xref: ICD10CM:L98.1 {source="DOID:9165"}
xref: ICD9:300.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:698.4 {source="DOID:9165"}
xref: MEDGEN:697535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:156384004 {source="DOID:9165"}
xref: SCTID:27720003 {source="DOID:9165"}
xref: SCTID:402736003 {source="MONDO:equivalentTo", source="DOID:9165"}
xref: UMLS:C1274184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:697535"}
xref: Wikipedia:Neurotic_excoriations {source="EFO:1000741"}
is_a: MONDO:0002406 {source="DOID:9165"} ! dermatitis

[Term]
id: MONDO:0006587
name: obsolete nodular nonsuppurative panniculitis
is_obsolete: true
replaced_by: MONDO:0018063

[Term]
id: MONDO:0006588
name: obsolete nonepidermolytic palmoplantar keratoderma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4095" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010962

[Term]
id: MONDO:0006589
name: occupational dermatitis
def: "Contact dermatitis associated with allergens or irritants found in the workplace." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "occupational allergic contact dermatitis" EXACT [DOID:4404]
synonym: "occupational dermatitis" EXACT [DOID:4404, NCIT:C34859]
synonym: "occupational eczema" EXACT [DOID:4404]
synonym: "occupational eczema (disorder) [ambiguous]" EXACT [DOID:4404]
xref: DOID:4404 {source="MONDO:equivalentTo", source="EFO:1000744"}
xref: EFO:1000744 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009783 {source="DOID:4404", source="MONDO:equivalentTo"}
xref: NCIT:C34859 {source="DOID:4404", source="MONDO:equivalentTo"}
xref: SCTID:156338009 {source="DOID:4404"}
xref: SCTID:200780008 {source="DOID:4404"}
xref: SCTID:225055005 {source="DOID:4404"}
xref: SCTID:238578002 {source="DOID:4404"}
xref: SCTID:267842005 {source="DOID:4404"}
xref: SCTID:402587003 {source="DOID:4404", source="MONDO:equivalentTo"}
xref: SCTID:83252008 {source="DOID:4404"}
xref: UMLS:C0028796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14449"}
is_a: MONDO:0002406 {source="DOID:4404/inferred", source="MESH:D009783/inferred", source="MONDO:Redundant", source="NCIT:C34859"} ! dermatitis
is_a: MONDO:0005480 {source="DOID:4404", source="EFO:1000744", source="MESH:D009783"} ! contact dermatitis
intersection_of: MONDO:0002406 ! dermatitis
intersection_of: realized_in_response_to ECTO:0001591 ! exposure to occupation

[Term]
id: MONDO:0006590
name: palmoplantar keratosis
def: "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis." [NCIT:C34748]
subset: otar {source="MONDO:OTAR"}
synonym: "keratoderma, palmoplantar" RELATED [GARD:0008167]
synonym: "keratosis palmaris et plantaris" EXACT [DOID:3390]
synonym: "palmoplantar keratoderma" EXACT [DOID:3390, NCIT:C34748]
xref: DOID:3390 {source="MONDO:equivalentTo", source="EFO:1000745"}
xref: EFO:1000745 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L85.2 {source="DOID:3390"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:44017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007645 {source="DOID:3390"}
xref: NCIT:C34748 {source="MONDO:equivalentTo", source="DOID:3390"}
xref: SCTID:205584004 {source="DOID:3390"}
xref: SCTID:28596004 {source="DOID:3390"}
xref: SCTID:706885006 {source="MONDO:equivalentTo", source="DOID:3390"}
xref: UMLS:C0022596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44017"}
is_a: MONDO:0006566 {source="DOID:3390", source="EFO:1000745", source="NCIT:C34748"} ! keratosis

[Term]
id: MONDO:0006591
name: panniculitis
def: "Inflammation of the subcutaneous adipose tissue." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of subcutaneous adipose tissue" EXACT []
synonym: "Subcutaneous adipose tissue" EXACT [NCIT:C33645]
synonym: "subcutaneous adipose tissue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "Subcutaneous tissue" EXACT [NCIT:C33645]
synonym: "subcutis" EXACT [NCIT:C33645]
xref: DOID:1526 {source="MONDO:equivalentTo", source="EFO:1000746"}
xref: EFO:1000746 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M79.3 {source="DOID:1526"}
xref: ICD9:729.3 {source="DOID:1526"}
xref: ICD9:729.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1526"}
xref: ICD9:729.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015434 {source="MONDO:equivalentTo", source="DOID:1526"}
xref: NCIT:C112112 {source="MONDO:otherHierarchy", source="DOID:1526"}
xref: NCIT:C33645 {source="MONDO:equivalentTo"}
xref: SCTID:156779007 {source="DOID:1526"}
xref: SCTID:203119008 {source="DOID:1526"}
xref: SCTID:203120002 {source="DOID:1526"}
xref: SCTID:203122005 {source="DOID:1526"}
xref: SCTID:22125009 {source="MONDO:equivalentTo", source="DOID:1526"}
xref: SCTID:268012006 {source="DOID:1526"}
xref: SCTID:268122002 {source="DOID:1526"}
xref: UMLS:C0030326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45301"}
xref: Wikipedia:Panniculitis {source="EFO:1000746"}
is_a: MONDO:0003900 {source="MESH:D015434", source="MONDO:Redundant"} ! connective tissue disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002190 ! subcutaneous adipose tissue
relationship: excluded_subClassOf MONDO:0005546 {source="DOID:1526", source="https://orcid.org/0000-0001-5208-3432"} ! fibromyalgia

[Term]
id: MONDO:0006592
name: parapsoriasis
def: "Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids." [https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis]
subset: otar {source="MONDO:OTAR"}
synonym: "digitate dermatosis" RELATED [GARD:0007328]
synonym: "parapsoriasis en plaque" RELATED [GARD:0007328]
xref: DOID:9088 {source="MONDO:equivalentTo", source="EFO:1000747"}
xref: EFO:1000747 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L41 {source="MONDO:equivalentTo", source="DOID:9088"}
xref: ICD10CM:L41.9 {source="DOID:9088"}
xref: ICD9:696.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9088"}
xref: MEDGEN:10579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010267 {source="MONDO:equivalentTo", source="DOID:9088"}
xref: NCIT:C3312 {source="MONDO:equivalentTo", source="DOID:9088"}
xref: SCTID:156371008 {source="DOID:9088"}
xref: SCTID:200979001 {source="DOID:9088"}
xref: SCTID:200980003 {source="DOID:9088"}
xref: SCTID:200991005 {source="DOID:9088"}
xref: SCTID:238592008 {source="DOID:9088"}
xref: SCTID:267851002 {source="DOID:9088"}
xref: SCTID:88233000 {source="MONDO:equivalentTo", source="DOID:9088"}
xref: UMLS:C0030491 {source="MEDGEN:10579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Parapsoriasis {source="EFO:1000747"}
is_a: MONDO:0005083 {source="DOID:9088", source="EFO:1000747"} ! psoriasis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis" xsd:anyURI {source="GARD:0007328"}

[Term]
id: MONDO:0006593
name: pelvic lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males." [NCIT:C27486]
subset: otar {source="MONDO:OTAR"}
synonym: "Excess of mature unencapsulated fatty tissue in the pelvis" RELATED [GARD:0007350]
synonym: "pelvic lipomatosis" EXACT [NCIT:C27486]
synonym: "pelvic lipomatosis (morphologic abnormality)" EXACT [DOID:3927]
xref: DOID:3927 {source="MONDO:equivalentTo", source="EFO:1000748"}
xref: EFO:1000748 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:96064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535549 {source="MONDO:equivalentTo", source="DOID:3927"}
xref: NCIT:C27486 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3927"}
xref: SCTID:190802005 {source="DOID:3927"}
xref: UMLS:C0406608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96064"}
is_a: MONDO:0006574 {source="DOID:3927", source="EFO:1000748", source="MESH:C535549", source="NCIT:C27486"} ! lipomatosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7350/pelvic-lipomatosis" xsd:anyURI {source="GARD:0007350"}

[Term]
id: MONDO:0006594
name: pemphigus
def: "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" [https://rarediseases.info.nih.gov/diseases/7352/pemphigus]
subset: gard_rare {source="GARD:7352", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:9182 {source="EFO:1000749", source="MONDO:equivalentTo"}
xref: EFO:1000749 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7352 {source="MONDO:GARD"}
xref: ICD10CM:L10 {source="DOID:9182", source="MONDO:equivalentTo"}
xref: ICD10CM:L10.9 {source="DOID:9182"}
xref: ICD9:694.4 {source="DOID:9182", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:45369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010392 {source="DOID:9182", source="MONDO:equivalentTo"}
xref: NANDO:1200228 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34909 {source="DOID:9182", source="MONDO:equivalentTo"}
xref: SCTID:156355008 {source="DOID:9182"}
xref: SCTID:200908008 {source="DOID:9182"}
xref: SCTID:65172003 {source="DOID:9182", source="MONDO:equivalentTo"}
xref: UMLS:C0030807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45369"}
xref: Wikipedia:Pemphigus {source="EFO:1000749"}
is_a: MONDO:0019337 {source="DOID:9182", source="EFO:1000749", source="EFO:1000749/inferred"} ! autoimmune bullous skin disease
relationship: realized_in_response_to_stimulus GO:0030057 ! desmosome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7352/pemphigus" xsd:anyURI {source="GARD:0007352"}

[Term]
id: MONDO:0006595
name: perinatal jaundice due to hepatocellular damage
def: "Jaundice in perinates due to cellular damage of liver." [EFO:1000750]
xref: DOID:11452 {source="MONDO:equivalentTo", source="EFO:1000750"}
xref: ICD9:774.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11452"}
xref: MEDGEN:510683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:10877007 {source="MONDO:equivalentTo", source="DOID:11452"}
xref: SCTID:206463003 {source="DOID:11452"}
xref: SCTID:206467002 {source="DOID:11452"}
xref: UMLS:C0158976 {source="MEDGEN:510683", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005154 {source="https://orcid.org/0000-0002-4142-7153"} ! liver disorder

[Term]
id: MONDO:0006596
name: photoallergic dermatitis
def: "A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin." [MESH:D017454]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "photoallergic contact dermatitis" EXACT [DOID:3818]
synonym: "photoallergic eczema" EXACT [DOID:3818]
xref: DOID:3818 {source="EFO:1000751", source="MONDO:equivalentTo"}
xref: ICD9:692.72 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017454 {source="MONDO:equivalentTo", source="DOID:3818"}
xref: SCTID:111209006 {source="MONDO:equivalentTo", source="DOID:3818"}
xref: SCTID:238523008 {source="DOID:3818"}
xref: SCTID:238524002 {source="DOID:3818"}
xref: SCTID:367334003 {source="DOID:3818"}
xref: UMLS:C0162824 {source="MEDGEN:56514", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Photodermatitis {source="EFO:1000751"}
is_a: MONDO:0006525 {source="DOID:3818", source="EFO:1000751", source="MESH:D017454", source="MONDO:Redundant"} ! allergic contact dermatitis
is_a: MONDO:0006597 {source="DOID:3818", source="MESH:D017454", source="MONDO:Redundant"} ! photosensitivity disease
intersection_of: MONDO:0006525 ! allergic contact dermatitis
intersection_of: MONDO:0006597 ! photosensitivity disease

[Term]
id: MONDO:0006597
name: photosensitivity disease
def: "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." [MESH:D010787]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder, photosensitivity" EXACT [MESH:D010787]
synonym: "disorders, photosensitivity" EXACT [MESH:D010787]
synonym: "photodermatitides" EXACT [MESH:D010787]
synonym: "photodermatitis" EXACT [MESH:D010787]
synonym: "photodermatosis" EXACT []
synonym: "photosensitivity disorder" EXACT [MESH:D010787]
synonym: "photosensitization" EXACT [MESH:D010787]
xref: DOID:3159 {source="MONDO:equivalentTo", source="EFO:1000752"}
xref: EFO:1000752 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:19281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010787 {source="DOID:3159", source="MONDO:equivalentTo"}
xref: SCTID:22649008 {source="DOID:3159", source="MONDO:equivalentTo"}
xref: UMLS:C0031762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19281"}
is_a: MONDO:0002406 {source="DOID:3159"} ! dermatitis
relationship: realized_in_response_to ECTO:0000002 ! exposure to electromagnetic radiation

[Term]
id: MONDO:0006598
name: phototoxic dermatitis
def: "Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight." [NCIT:C4816]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Photodermatitis" EXACT [NCIT:C4816]
synonym: "Photosensitisation reaction" EXACT [DOID:4407]
synonym: "photosensitive dermatitis" EXACT [DOID:4407, NCIT:C4816]
synonym: "photosensitiveness" EXACT [DOID:4407]
synonym: "photosensitivity reaction" EXACT [NCIT:C4816]
xref: DOID:4407 {source="MONDO:equivalentTo", source="EFO:1000753"}
xref: EFO:1000753 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:58188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017484 {source="MONDO:equivalentTo", source="DOID:4407"}
xref: NCIT:C4816 {source="MONDO:equivalentTo", source="DOID:4407"}
xref: SCTID:53597009 {source="MONDO:equivalentTo", source="DOID:4407"}
xref: SCTID:84326006 {source="DOID:4407"}
xref: UMLS:C0162830 {source="MEDGEN:58188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Photodermatitis {source="EFO:1000753"}
is_a: MONDO:0002406 {source="DOID:4407/inferred", source="MESH:D017484/inferred", source="MONDO:Redundant", source="NCIT:C4816"} ! dermatitis
is_a: MONDO:0006564 {source="DOID:4407", source="EFO:1000753", source="MESH:D017484", source="MONDO:Entailed", source="MONDO:Redundant"} ! irritant dermatitis
is_a: MONDO:0006597 {source="DOID:4407", source="EFO:1000753", source="MESH:D017484"} ! photosensitivity disease
intersection_of: MONDO:0006564 ! irritant dermatitis
intersection_of: realized_in_response_to ECTO:0000006 ! exposure to ultraviolet radiation

[Term]
id: MONDO:0006599
name: physical urticaria
def: "A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously." [Wikipedia:Physical_urticaria]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0060220 {source="MONDO:equivalentTo", source="EFO:1000754"}
xref: EFO:1000754 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1639813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:402601007 {source="MONDO:equivalentTo"}
xref: UMLS:C4551831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639813"}
is_a: MONDO:0005492 {source="DOID:0060220", source="EFO:1000754"} ! urticaria

[Term]
id: MONDO:0006600
name: obsolete pigmentation disease
comment: Reason: grouping class. Term to consider: none. This class covers pigmentation disorders of the skin, as well as those affecting the eyes.
synonym: "disorder of pigmentation" EXACT []
xref: SCTID:414032001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginProcess"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4111" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4480" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0006601
name: pityriasis rosea
def: "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Pityriasis circinata" EXACT [DOID:8892]
synonym: "Pityriasis rosea" EXACT [DOID:8892, NCIT:C26855]
xref: DOID:8892 {source="MONDO:equivalentTo", source="EFO:1000756"}
xref: EFO:1000756 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L42 {source="MONDO:equivalentTo", source="DOID:8892"}
xref: ICD9:696.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8892"}
xref: MEDGEN:18492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017515 {source="MONDO:equivalentTo", source="DOID:8892"}
xref: NCIT:C26855 {source="MONDO:equivalentTo", source="DOID:8892"}
xref: SCTID:156373006 {source="DOID:8892"}
xref: SCTID:77252004 {source="MONDO:equivalentTo", source="DOID:8892"}
xref: UMLS:C0032026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18492"}
xref: Wikipedia:Pityriasis_rosea {source="EFO:1000756"}
is_a: MONDO:0002406 {source="NCIT:C26855"} ! dermatitis
is_a: MONDO:0006547 {source="EFO:1000756", source="https://orcid.org/0000-0002-6601-2165"} ! exanthem
relationship: excluded_subClassOf MONDO:0005083 {source="DOID:8892", source="EFO:1000756", source="https://orcid.org/0000-0001-5208-3432"} ! psoriasis

[Term]
id: MONDO:0006602
name: porokeratosis
def: "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:18989", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79358"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disseminated superficial actinic porokeratosis" RELATED EXCLUDE [DOID:3805]
synonym: "porokeratosis" EXACT [MONDO:ambiguous]
synonym: "porokeratosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:3805 {source="MONDO:equivalentTo", source="EFO:1000757"}
xref: EFO:1000757 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18989 {source="MONDO:GARD"}
xref: HP:0200044 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L56.5 {source="DOID:3805"}
xref: ICD10CM:Q82.8 {source="Orphanet:79358", source="Orphanet:79358/ntbt"}
xref: icd11.foundation:29524620 {source="Orphanet:79358", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:692.75 {source="DOID:3805"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10036175 {source="Orphanet:79358", source="Orphanet:79358/e"}
xref: MEDGEN:56518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017499 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:79358", source="MONDO:equivalentTo", source="Orphanet:79358/e", source="DOID:3805"}
xref: NCIT:C85019 {source="MONDO:equivalentTo", source="DOID:3805"}
xref: OMIMPS:175800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:79358 {source="MONDO:equivalentTo"}
xref: SCTID:201086003 {source="DOID:3805"}
xref: SCTID:238630009 {source="DOID:3805"}
xref: SCTID:400080004 {source="MONDO:equivalentTo", source="DOID:3805"}
xref: SCTID:41495000 {source="DOID:3805"}
xref: SCTID:80432009 {source="DOID:3805"}
xref: UMLS:C0162839 {source="MEDGEN:56518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Porokeratosis {source="EFO:1000757"}
is_a: MONDO:0006566 {source="DOID:3805", source="EFO:1000757"} ! keratosis
is_a: MONDO:0019268 {source="Orphanet:79358"} ! epidermal disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:175800"} ! inherited
property_value: IAO:0000589 "porokeratosis (disease)" xsd:string

[Term]
id: MONDO:0006603
name: reactive cutaneous fibrous lesion
def: "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2053 {source="MONDO:equivalentTo", source="EFO:1000759"}
xref: EFO:1000759 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27549 {source="MONDO:equivalentTo", source="DOID:2053"}
xref: UMLS:C1335666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235529"}
is_a: MONDO:0005093 {source="DOID:2053", source="EFO:1000759", source="NCIT:C27549/inferred"} ! skin disorder

[Term]
id: MONDO:0006604
name: rosacea
def: "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acne rosacea" EXACT [NCIT:C97136]
synonym: "acne roscea" EXACT [DOID:8881]
synonym: "acne, erythematosa" EXACT [DOID:8881]
xref: DOID:8881 {source="EFO:1000760", source="MONDO:equivalentTo"}
xref: EFO:1000760 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L71 {source="MONDO:equivalentTo", source="DOID:8881"}
xref: ICD10CM:L71.9 {source="DOID:8881"}
xref: ICD9:695.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8881"}
xref: MEDGEN:11269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012393 {source="MONDO:equivalentTo", source="DOID:8881"}
xref: NCIT:C97136 {source="MONDO:equivalentTo", source="DOID:8881"}
xref: SCTID:156364003 {source="DOID:8881"}
xref: SCTID:1612004 {source="DOID:8881"}
xref: SCTID:200930009 {source="DOID:8881"}
xref: SCTID:200935004 {source="DOID:8881"}
xref: SCTID:267849001 {source="DOID:8881"}
xref: SCTID:398909004 {source="MONDO:equivalentTo", source="DOID:8881"}
xref: UMLS:C0035854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11269"}
xref: Wikipedia:Rosacea {source="EFO:1000760"}
is_a: MONDO:0005093 {source="DOID:8881", source="EFO:1000760", source="MESH:D012393", source="NCIT:C97136/inferred"} ! skin disorder

[Term]
id: MONDO:0006605
name: scalp dermatosis
def: "Dermotosis of scalp" [EFO:1000761]
synonym: "dermatosis of scalp" EXACT [DOID:3136]
xref: DOID:3136 {source="MONDO:equivalentTo", source="EFO:1000761"}
xref: MEDGEN:19882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012536 {source="DOID:3136", source="MONDO:equivalentTo"}
xref: SCTID:402694007 {source="DOID:3136", source="MONDO:equivalentTo"}
xref: UMLS:C0036271 {source="MEDGEN:19882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:3136", source="EFO:1000761", source="MESH:D012536"} ! skin disorder

[Term]
id: MONDO:0006606
name: scleredema adultorum
def: "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis." [NCIT:C85057]
subset: gard_rare {source="GARD:5975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352763"}
subset: orphanet_rare {source="Orphanet:352763"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Buschke scleredema" EXACT [MESH:D012592, Orphanet:352763]
synonym: "Buschke scleredema adultorum" RELATED [MESH:D012592]
synonym: "Buschke scleredema Diabeticorum" RELATED [MESH:D012592]
synonym: "Buschke's scleredema" EXACT [DOID:3140, MESH:D012592]
synonym: "Buschkes scleredema" EXACT [MESH:D012592]
synonym: "Diabeticorum, scleredema" EXACT [MESH:D012592]
synonym: "Diabeticorums, scleredema" EXACT [MESH:D012592]
synonym: "scleredema" EXACT [MESH:D012592]
synonym: "scleredema adultorum" EXACT [NCIT:C85057]
synonym: "scleredema adultorum of Buschke" EXACT [MESH:D012592]
synonym: "scleredema Diabeticorum" EXACT [MESH:D012592]
synonym: "scleredema Diabeticorum of Buschke" EXACT [MESH:D012592]
synonym: "scleredema Diabeticorums" EXACT [MESH:D012592]
synonym: "scleredema, Buschke's" EXACT [MESH:D012592]
synonym: "scleredemas" EXACT [MESH:D012592]
xref: DOID:3140 {source="EFO:1000762", source="MONDO:equivalentTo"}
xref: EFO:1000762 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5975 {source="MONDO:GARD"}
xref: ICD10CM:M34.8 {source="Orphanet:352763", source="Orphanet:352763/ntbt"}
xref: MEDGEN:11346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012592 {source="MONDO:equivalentTo", source="DOID:3140"}
xref: NCIT:C85057 {source="MONDO:equivalentTo", source="DOID:3140"}
xref: Orphanet:352763 {source="MONDO:equivalentTo"}
xref: SCTID:72967001 {source="DOID:3140"}
xref: SCTID:95323007 {source="MONDO:equivalentTo", source="DOID:3140"}
xref: UMLS:C0036413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11346"}
is_a: MONDO:0002523 {source="DOID:3140", source="MESH:D012592"} ! cutaneous mucinosis
is_a: MONDO:0005093 {source="DOID:3140", source="DOID:3140/inferred", source="EFO:1000762", source="MESH:D012592", source="MONDO:indirect"} ! skin disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3847" xsd:anyURI

[Term]
id: MONDO:0006607
name: sebaceous gland disorder
def: "A disease involving the sebaceous gland." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of sebaceous gland" EXACT [MONDO:patterns/location_top]
synonym: "disease of sebaceous glands" RELATED []
synonym: "disease or disorder of sebaceous gland" EXACT []
synonym: "disorder of sebaceous gland" EXACT [MONDO:patterns/location_top]
synonym: "sebaceous gland disease" EXACT [MONDO:patterns/location]
synonym: "sebaceous gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:9098 {source="MONDO:equivalentTo", source="EFO:1000763"}
xref: EFO:1000763 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L70.8 {source="DOID:9098"}
xref: ICD9:706.1 {source="DOID:9098"}
xref: MEDGEN:48599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012625 {source="MONDO:equivalentTo"}
xref: SCTID:201213005 {source="DOID:9098"}
xref: SCTID:201230007 {source="DOID:9098"}
xref: SCTID:201401002 {source="DOID:9098"}
xref: SCTID:3441005 {source="MONDO:equivalentTo"}
xref: UMLS:C0036502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48599"}
is_a: MONDO:0005093 {source="DOID:9098", source="EFO:1000763", source="MESH:D012625"} ! skin disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland

[Term]
id: MONDO:0006608
name: seborrheic dermatitis
def: "A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching." [NCIT:C111888]
subset: otar {source="MONDO:OTAR"}
synonym: "cradle Cap" EXACT [NCIT:C111888]
synonym: "seborrhea" EXACT [DOID:8741, NCIT:C111888]
synonym: "seborrheic dermatitis" EXACT [MONDO:ambiguous, NCIT:C111888]
synonym: "seborrheic dermatitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "seborrheic eczema" EXACT [NCIT:C111888]
synonym: "Seborrhoeic dermatitis" EXACT [DOID:8741]
synonym: "Seborrhoeic eczema" EXACT [DOID:8741]
synonym: "skin seborrheic" EXACT [DOID:8741, MTH:NOCODE]
xref: DOID:8741 {source="MONDO:equivalentTo", source="EFO:1000764"}
xref: EFO:1000764 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001051 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L21 {source="DOID:8741"}
xref: ICD10CM:L21.9 {source="DOID:8741"}
xref: ICD9:690.1 {source="DOID:8741"}
xref: ICD9:690.10 {source="DOID:8741"}
xref: ICD9:706.3 {source="DOID:8741"}
xref: MEDGEN:19912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012628 {source="MONDO:equivalentTo", source="DOID:8741"}
xref: NCIT:C111888 {source="MONDO:equivalentTo", source="DOID:8741"}
xref: SCTID:156328004 {source="DOID:8741"}
xref: SCTID:156421006 {source="DOID:8741"}
xref: SCTID:200764003 {source="DOID:8741"}
xref: SCTID:201241009 {source="DOID:8741"}
xref: SCTID:50563003 {source="DOID:8741"}
xref: SCTID:86708008 {source="DOID:8741"}
xref: UMLS:C0036508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19912"}
is_a: MONDO:0002406 {source="DOID:8741", source="MESH:D012628", source="NCIT:C111888"} ! dermatitis
property_value: IAO:0000589 "seborrheic dermatitis (disease)" xsd:string

[Term]
id: MONDO:0006609
name: seborrheic infantile dermatitis
def: "Excessive shedding of dry scaly material from the scalp in humans." [MESH:D063807]
synonym: "complement 5 dysfunction" EXACT [DOID:8941]
synonym: "cradle cap" EXACT [DOID:8941]
synonym: "generalised seborrheic dermatitis of infants" EXACT OMO:0003005 []
synonym: "generalized seborrheic dermatitis of infants" EXACT [DOID:8941]
synonym: "infantile seborrheic dermatitis" EXACT [DOID:8941]
synonym: "infantile seborrhoeic dermatitis" EXACT [DOID:8941]
synonym: "pityriasis capitis" RELATED [DOID:8941]
synonym: "scalp seborrheic dermatitis (disease)" EXACT [MONDO:patterns/location]
synonym: "seborrhea capitis" EXACT [DOID:8941]
synonym: "seborrhea sicca" EXACT [DOID:8941]
synonym: "seborrheic dermatitis (disease) of scalp" EXACT []
synonym: "Seborrhoea capitis" EXACT [DOID:8941]
synonym: "Seborrhoeic dermatitis of scalp" EXACT [DOID:8941]
synonym: "Seborrhoeic eczema of scalp" EXACT [DOID:8941]
xref: DOID:8941 {source="MONDO:equivalentTo", source="EFO:1000765"}
xref: ICD10CM:L21.0 {source="DOID:8941"}
xref: ICD9:690.11 {source="DOID:8941"}
xref: MESH:D063807 {source="DOID:8941"}
xref: SCTID:156327009 {source="DOID:8941"}
xref: SCTID:156329007 {source="DOID:8941"}
xref: SCTID:200763009 {source="DOID:8941"}
xref: SCTID:200764003 {source="DOID:8941"}
xref: SCTID:201177005 {source="DOID:8941"}
xref: SCTID:28431005 {source="DOID:8941"}
xref: SCTID:400201008 {source="DOID:8941", source="MONDO:relatedTo"}
xref: SCTID:48596006 {source="DOID:8941"}
xref: SCTID:77592001 {source="DOID:8941"}
is_a: MONDO:0006608 {source="DOID:8941", source="EFO:1000765", source="MONDO:Redundant"} ! seborrheic dermatitis
intersection_of: MONDO:0006608 ! seborrheic dermatitis
intersection_of: disease_has_location UBERON:0000403 ! scalp
relationship: disease_has_feature HP:0001051 ! Seborrheic dermatitis

[Term]
id: MONDO:0006610
name: skin atrophy
def: "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "atrophic condition of skin" EXACT [DOID:2733]
synonym: "atrophic skin" EXACT [NCIT:C35163]
synonym: "atrophoderma" EXACT [DOID:2733]
synonym: "atrophy - skin" EXACT [DOID:2733]
synonym: "atrophy of skin" EXACT [NCIT:C35163]
xref: DOID:2733 {source="MONDO:equivalentTo", source="EFO:1000766"}
xref: EFO:1000766 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L90 {source="DOID:2733"}
xref: ICD10CM:L90.9 {source="DOID:2733"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:101793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35163 {source="MONDO:equivalentTo", source="DOID:2733"}
xref: SCTID:156391001 {source="DOID:2733"}
xref: SCTID:16343004 {source="DOID:2733"}
xref: SCTID:201090001 {source="DOID:2733"}
xref: SCTID:267857003 {source="DOID:2733"}
xref: SCTID:399979006 {source="DOID:2733"}
xref: SCTID:400190005 {source="MONDO:equivalentTo", source="DOID:2733"}
xref: UMLS:C0151514 {source="MEDGEN:101793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Steroid_atrophy {source="EFO:1000766"}
is_a: MONDO:0005093 {source="DOID:2733", source="EFO:1000766", source="NCIT:C35163/inferred"} ! skin disorder

[Term]
id: MONDO:0006611
name: skin sarcoidosis
def: "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous sarcoid" EXACT [DOID:13402]
synonym: "cutaneous sarcoidosis" EXACT [DOID:13402, NCIT:C34996]
synonym: "sarcoidosis of zone of skin" EXACT [MONDO:design_pattern]
synonym: "zone of skin sarcoidosis" EXACT [MONDO:patterns/location]
xref: DOID:13402 {source="MONDO:equivalentTo", source="EFO:1000767"}
xref: EFO:1000767 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D86.3 {source="MONDO:equivalentTo", source="DOID:13402"}
xref: MEDGEN:19872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34996 {source="MONDO:equivalentTo", source="DOID:13402"}
xref: SCTID:187234008 {source="DOID:13402"}
xref: SCTID:55941000 {source="MONDO:equivalentTo", source="DOID:13402"}
xref: UMLS:C0036203 {source="MEDGEN:19872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Cutaneous_manifestations_of_sarcoidosis {source="EFO:1000767"}
is_a: MONDO:0019338 {source="DOID:13402", source="MONDO:Redundant", source="NCIT:C34996"} ! sarcoidosis
intersection_of: MONDO:0019338 ! sarcoidosis
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0006612
name: steroid lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone." [NCIT:C27487]
synonym: "steroid lipomatosis" EXACT [NCIT:C27487]
xref: DOID:3925 {source="MONDO:equivalentTo", source="EFO:1000769"}
xref: MEDGEN:234364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27487 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3925"}
xref: UMLS:C1336506 {source="MEDGEN:234364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006574 {source="DOID:3925", source="EFO:1000769", source="NCIT:C27487"} ! lipomatosis

[Term]
id: MONDO:0006613
name: stromal corneal pigmentation
def: "Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." [EFO:1000770]
synonym: "stromal corneal pigmentations" EXACT [DOID:12311, ICD9CM:371.12]
xref: DOID:12311 {source="EFO:1000770", source="MONDO:equivalentTo"}
xref: ICD10CM:H18.06 {source="DOID:12311"}
xref: ICD9:371.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12311"}
xref: MEDGEN:509791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:55031000 {source="MONDO:equivalentTo", source="DOID:12311"}
xref: UMLS:C0155105 {source="MONDO:equivalentTo", source="MEDGEN:509791", source="MONDO:MEDGEN"}
is_a: MONDO:0001308 {source="DOID:12311"} ! corneal deposit

[Term]
id: MONDO:0006614
name: subcorneal pustular dermatosis
def: "A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities." [Orphanet:48377]
subset: gard_rare {source="GARD:13606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:48377"}
subset: orphanet_rare {source="Orphanet:48377"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pustulosis subcornealis" EXACT [Orphanet:48377]
synonym: "Sneddon-Wilkinson disease" EXACT [Orphanet:48377]
synonym: "Sneddon-Wilkinson disease or syndrome" EXACT [DOID:8508]
synonym: "subcorneal pustular dermatitis" EXACT [Orphanet:48377]
synonym: "subcorneal pustular dermatosis" EXACT [DOID:8508, ICD9CM:694.1]
xref: DOID:8508 {source="EFO:1000771", source="MONDO:equivalentTo"}
xref: EFO:1000771 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13606 {source="MONDO:GARD"}
xref: ICD10CM:L13.1 {source="Orphanet:48377/e", source="DOID:8508", source="Orphanet:48377"}
xref: ICD9:694.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8508"}
xref: MedDRA:10042342 {source="Orphanet:48377/e", source="Orphanet:48377"}
xref: MEDGEN:108687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012872 {source="MONDO:relatedTo", source="DOID:8508"}
xref: Orphanet:48377 {source="MONDO:equivalentTo"}
xref: SCTID:25147002 {source="MONDO:equivalentTo", source="DOID:8508"}
xref: UMLS:C0600336 {source="MEDGEN:108687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
is_a: MONDO:0019337 {source="DOID:8508", source="EFO:1000771"} ! autoimmune bullous skin disease

[Term]
id: MONDO:0006615
name: sweat gland disorder
def: "A disease involving the sweat gland." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of sweat gland" EXACT [MONDO:patterns/location_top]
synonym: "disease of sweat glands" RELATED []
synonym: "disease or disorder of sweat gland" EXACT []
synonym: "disorder of sweat gland" EXACT [MONDO:patterns/location_top]
synonym: "disorder of sweat glands" RELATED []
synonym: "sweat gland disease" EXACT [MONDO:patterns/location]
synonym: "sweat gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:1383 {source="MONDO:equivalentTo", source="EFO:1000772"}
xref: ICD10CM:L74 {source="DOID:1383"}
xref: ICD10CM:L74.9 {source="DOID:1383"}
xref: ICD9:705 {source="DOID:1383"}
xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:705.9 {source="DOID:1383", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:892310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013543 {source="DOID:1383", source="MONDO:equivalentTo"}
xref: SCTID:156413000 {source="DOID:1383"}
xref: SCTID:201209003 {source="DOID:1383"}
xref: SCTID:88232005 {source="DOID:1383", source="MONDO:equivalentTo"}
xref: UMLS:C0262643 {source="MONDO:equivalentTo", source="MEDGEN:892310", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:1383", source="EFO:1000772", source="MESH:D013543"} ! skin disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001820 ! sweat gland

[Term]
id: MONDO:0006616
name: toxicodendron dermatitis
def: "An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)" [MESH:D011040]
subset: otar {source="MONDO:OTAR"}
synonym: "contact dermatitis due to genus Toxicodendron" EXACT [DOID:3819]
synonym: "Rhus dermatitis" EXACT [DOID:3819]
xref: DOID:3819 {source="EFO:1000773", source="MONDO:equivalentTo"}
xref: EFO:1000773 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:692.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011040 {source="DOID:3819", source="MONDO:equivalentTo"}
xref: SCTID:410049000 {source="DOID:3819", source="MONDO:equivalentTo"}
xref: UMLS:C0032342 {source="MEDGEN:10820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006525 {source="DOID:3819", source="EFO:1000773", source="MESH:D011040"} ! allergic contact dermatitis

[Term]
id: MONDO:0006617
name: vesiculobullous skin disease
def: "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" [MESH:D012872]
subset: otar {source="MONDO:OTAR"}
synonym: "bullous dermatoses" RELATED [MESH:D012872]
synonym: "bullous skin disease" RELATED [MESH:D012872]
synonym: "bullous skin diseases" RELATED [MESH:D012872]
synonym: "dermatoses, bullous" RELATED [MESH:D012872]
synonym: "dermatoses, subcorneal pustular" RELATED [MESH:D012872]
synonym: "dermatoses, vesiculobullous" RELATED [MESH:D012872]
synonym: "dermatosis, subcorneal pustular" RELATED [MESH:D012872]
synonym: "pustular dermatoses, subcorneal" RELATED [MESH:D012872]
synonym: "pustular dermatosis, subcorneal" RELATED [MESH:D012872]
synonym: "skin disease, bullous" RELATED [MESH:D012872]
synonym: "skin disease, vesicular" RELATED [MESH:D012872]
synonym: "skin disease, vesiculobullous" RELATED [MESH:D012872]
synonym: "skin diseases, bullous" RELATED [MESH:D012872]
synonym: "skin diseases, vesicular" NARROW [MESH:D012872]
synonym: "Sneddon Wilkinson disease" NARROW [MESH:D012872]
synonym: "Sneddon-Wilkinson disease" NARROW [MESH:D012872]
synonym: "subcorneal pustular dermatoses" NARROW [MESH:D012872]
synonym: "subcorneal pustular dermatosis" NARROW [MESH:D012872]
synonym: "vesicular skin disease" RELATED [MESH:D012872]
synonym: "vesicular skin diseases" RELATED [MESH:D012872]
synonym: "vesiculobullous dermatoses" RELATED [MESH:D012872]
synonym: "vesiculobullous skin disease" EXACT [MESH:D012872]
synonym: "vesiculobullous skin diseases" RELATED [MESH:D012872]
xref: DOID:2731 {source="MONDO:equivalentTo", source="EFO:1000774"}
xref: EFO:1000774 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:20778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012872 {source="MONDO:equivalentTo", source="DOID:2731", source="EFO:1000774"}
xref: UMLS:C0037275 {source="MEDGEN:20778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:2731", source="EFO:1000774", source="MESH:D012872", source="MONDO:Redundant"} ! skin disorder
intersection_of: MONDO:0005093 ! skin disorder
intersection_of: disease_has_feature HP:0008066 ! Abnormal blistering of the skin

[Term]
id: MONDO:0006618
name: vibratory urticaria
def: "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful." [EFO:1000775]
comment: Editor note: TODO add ECTO
subset: otar {source="MONDO:OTAR"}
xref: DOID:1554 {source="MONDO:equivalentTo", source="EFO:1000775"}
xref: EFO:1000775 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L50.4 {source="MONDO:equivalentTo", source="DOID:1554"}
xref: ICD9:708.4 {source="MONDO:equivalentTo", source="DOID:1554", source="MONDO:i2s"}
xref: MEDGEN:510413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:51247001 {source="MONDO:equivalentTo", source="DOID:1554"}
xref: UMLS:C0157743 {source="MEDGEN:510413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Urticaria#Vibratory_angioedema {source="EFO:1000775"}
is_a: MONDO:0006599 {source="DOID:1554", source="EFO:1000775"} ! physical urticaria

[Term]
id: MONDO:0006619
name: viral exanthem
def: "A virus-induced exanthem" [EFO:1000776]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8672 {source="MONDO:equivalentTo", source="EFO:1000776"}
xref: EFO:1000776 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:057.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:8672"}
xref: ICD9:057.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186577001 {source="DOID:8672"}
xref: SCTID:186583003 {source="DOID:8672"}
xref: SCTID:186585005 {source="DOID:8672"}
xref: SCTID:49882001 {source="MONDO:equivalentTo"}
xref: UMLS:C0153062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509133"}
is_a: MONDO:0006547 {source="DOID:8672", source="EFO:1000776"} ! exanthem

[Term]
id: MONDO:0006620
name: vulva fibroepithelial polyp
def: "A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia." [NCIT:P378]
synonym: "fibroepithelial polyp of the vulva" EXACT [NCIT:C6857]
synonym: "fibroepithelial polyp of vulva" EXACT [NCIT:C6857]
synonym: "mammalian vulva skin tag" EXACT [MONDO:patterns/location]
synonym: "skin tag of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "vulval fibroepithelial polyp" EXACT [DOID:8255, NCIT:C6857]
synonym: "vulvar fibroepithelial polyp" EXACT [NCIT:C6857]
synonym: "vulvar fibroepithelial stromal polyp" EXACT [NCIT:C6857]
xref: DOID:8255 {source="MONDO:equivalentTo", source="EFO:1000777"}
xref: MEDGEN:237054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6857 {source="MONDO:equivalentTo", source="DOID:8255"}
xref: UMLS:C1336978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237054"}
is_a: MONDO:0005079 {source="EFO:1000777", source="EFO:1000777/inferred", source="MONDO:Redundant", source="NCIT:C6857/inferred"} ! polyp
is_a: MONDO:0021396 {source="MONDO:Redundant", source="NCIT:C6857"} ! polyp of vulva
is_a: MONDO:0060765 {source="NCIT:C6857"} ! fibroepithelial polyp
intersection_of: MONDO:0060765 ! fibroepithelial polyp
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva
relationship: excluded_subClassOf MONDO:0004026 {source="DOID:8255", source="https://orcid.org/0000-0001-5208-3432"} ! skin tag

[Term]
id: MONDO:0006621
name: vulvar inverted follicular keratosis
def: "Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "inverted follicular keratosis of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "mammalian vulva inverted follicular keratosis" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:6943 {source="MONDO:equivalentTo", source="EFO:1000778"}
xref: MEDGEN:274414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40291 {source="DOID:6943", source="MONDO:equivalentTo"}
xref: UMLS:C1520084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274414"}
is_a: MONDO:0006563 {source="DOID:6943", source="EFO:1000778", source="MONDO:Redundant", source="NCIT:C40291"} ! inverted follicular keratosis
is_a: MONDO:0006622 {source="DOID:6943", source="EFO:1000778", source="MONDO:Redundant", source="NCIT:C40291"} ! vulvar seborrheic keratosis
intersection_of: MONDO:0006563 ! inverted follicular keratosis
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0006622
name: vulvar seborrheic keratosis
def: "A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mammalian vulva seborrheic keratosis" EXACT [MONDO:patterns/location]
synonym: "seborrheic keratosis of mammalian vulva" EXACT [MONDO:design_pattern]
synonym: "seborrheic keratosis of the vulva" EXACT [NCIT:C6375]
synonym: "seborrheic keratosis of vulva" EXACT [DOID:6944, NCIT:C6375]
xref: DOID:6944 {source="MONDO:equivalentTo", source="EFO:1000779"}
xref: MEDGEN:237055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6375 {source="MONDO:equivalentTo", source="DOID:6944"}
xref: UMLS:C1336981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237055"}
is_a: MONDO:0000653 {source="DOID:6944", source="MONDO:Redundant"} ! integumentary system cancer
is_a: MONDO:0002195 {source="DOID:6944", source="NCIT:C6375"} ! vulvar squamous neoplasm
is_a: MONDO:0008420 {source="DOID:6944", source="EFO:1000779", source="MONDO:Redundant", source="NCIT:C6375"} ! seborrheic keratosis
intersection_of: MONDO:0008420 ! seborrheic keratosis
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0006623
name: obsolete autoimmune pancreatitis type 1
is_obsolete: true
replaced_by: MONDO:0017227

[Term]
id: MONDO:0006624
name: overactive bladder
def: "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present." [MESH:D053201]
subset: otar {source="MONDO:OTAR"}
synonym: "overactive bladder" EXACT [MONDO:ambiguous]
synonym: "overactive bladder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0070355 {source="MONDO:equivalentTo"}
xref: EFO:1000781 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000012 {source="MONDO:otherHierarchy"}
xref: ICD9:596.51 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10020853 {source="EFO:1000781"}
xref: MEDGEN:168058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053201 {source="EFO:1000781", source="MONDO:equivalentTo"}
xref: SCTID:236633002 {source="MONDO:equivalentTo"}
xref: UMLS:C0878773 {source="MEDGEN:168058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006026 {source="EFO:1000781", source="MESH:D053201"} ! urinary bladder disorder
property_value: IAO:0000589 "overactive bladder (disease)" xsd:string

[Term]
id: MONDO:0006625
name: altitude sickness
def: "Multiple symptoms associated with reduced oxygen at high altitude." [MESH:D000532]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000782 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:T70.2 {source="EFO:1000782"}
xref: MEDGEN:229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000532 {source="EFO:1000782", source="MONDO:equivalentTo"}
xref: UMLS:C0002351 {source="MEDGEN:229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Altitude_sickness {source="EFO:1000782"}
is_a: MONDO:0005087 {source="https://github.com/monarch-initiative/mondo/issues/1013"} ! respiratory system disorder
relationship: disease_has_feature HP:0012418 ! Hypoxemia
relationship: excluded_subClassOf MONDO:0004995 {source="EFO:1000782", source="https://orcid.org/0000-0001-5208-3432"} ! cardiovascular disorder

[Term]
id: MONDO:0006626
name: diabetic neuropathy
def: "A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:9743 {source="MONDO:equivalentTo"}
xref: EFO:1000783 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:250.6 {source="DOID:9743"}
xref: MEDGEN:8353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003929 {source="DOID:9743", source="MONDO:equivalentTo", source="EFO:1000783"}
xref: NCIT:C26748 {source="DOID:9743", source="MONDO:equivalentTo"}
xref: SCTID:154683002 {source="DOID:9743"}
xref: SCTID:190349003 {source="DOID:9743"}
xref: SCTID:190353001 {source="DOID:9743"}
xref: SCTID:193182005 {source="DOID:9743"}
xref: SCTID:230572002 {source="DOID:9743", source="MONDO:equivalentTo"}
xref: SCTID:267472008 {source="DOID:9743"}
xref: SCTID:866003 {source="DOID:9743"}
xref: UMLS:C0011882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8353"}
is_a: MONDO:0005244 {source="DOID:9743", source="EFO:1000783", source="EFO:1000783/inferred", source="MONDO:Redundant", source="NCIT:C26748"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus

[Term]
id: MONDO:0006627
name: obsolete microscopic polyangiitis
is_obsolete: true
replaced_by: MONDO:0019124

[Term]
id: MONDO:0006628
name: obsolete Sezary disease
synonym: "obsolete Sezary's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
is_obsolete: true
replaced_by: MONDO:0017844

[Term]
id: MONDO:0006629
name: osteoarthritis, hip
def: "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion." [MESH:D015207]
subset: otar {source="MONDO:OTAR"}
synonym: "hip osteoarthritis" EXACT [NCIT:C34876]
xref: EFO:1000786 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:14530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015207 {source="MONDO:equivalentTo", source="EFO:1000786"}
xref: NCIT:C34876 {source="MONDO:equivalentTo"}
xref: UMLS:C0029410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14530"}
is_a: MONDO:0005178 {source="EFO:1000786", source="MESH:D015207", source="NCIT:C34876"} ! osteoarthritis

[Term]
id: MONDO:0006630
name: osteoarthritis, spine
def: "A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte)." [MESH:D055013]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000787 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:389941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055013 {source="MONDO:equivalentTo", source="EFO:1000787"}
xref: SCTID:8847002 {source="MONDO:equivalentTo"}
xref: UMLS:C2350242 {source="MEDGEN:389941", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005178 {source="EFO:1000787", source="MESH:D055013"} ! osteoarthritis

[Term]
id: MONDO:0006631
name: osteoarthritis, toe
def: "Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle." [EFO:1000788]
xref: MEDGEN:592722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0409929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:592722"}
is_a: MONDO:0005178 {source="EFO:1000788"} ! osteoarthritis

[Term]
id: MONDO:0006632
name: osteoarthritis, hand
def: "Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children)." [EFO:1000789]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000789 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:472992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0263746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:472992"}
is_a: MONDO:0005178 {source="EFO:1000789"} ! osteoarthritis

[Term]
id: MONDO:0006633
name: acalculous cholecystitis
def: "Inflammation of the gallbladder in the absence of gallstones." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute acalculous cholecystitis" NARROW [DOID:2828]
synonym: "acute cholecystitis without calculus" EXACT [DOID:2828]
synonym: "cholecystitis without calculus" EXACT [DOID:2828]
xref: DOID:2828 {source="EFO:1000790", source="MONDO:equivalentTo"}
xref: EFO:1000790 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10000347 {source="EFO:1000790"}
xref: MEDGEN:82762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D042101 {source="EFO:1000790", source="MONDO:equivalentTo", source="DOID:2828"}
xref: NCIT:C35578 {source="EFO:1000790", source="MONDO:equivalentTo", source="DOID:2828"}
xref: SCTID:19968009 {source="MONDO:equivalentTo", source="DOID:2828"}
xref: UMLS:C0267841 {source="MEDGEN:82762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002155 {source="DOID:2828", source="MESH:D042101", source="NCIT:C35578"} ! cholecystitis
is_a: MONDO:0006032 {source="EFO:1000790"} ! cystitis

[Term]
id: MONDO:0006634
name: pituitary gland acidophil adenoma
def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes." [NCIT:C6780]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acidophil adenoma" EXACT [DOID:5392, NCIT:C6780]
synonym: "eosinophil adenoma" EXACT [DOID:5392, NCIT:C6780]
synonym: "pituitary gland acidophil adenoma" EXACT [NCIT:C6780]
xref: DOID:5392 {source="EFO:1000791", source="MONDO:equivalentTo"}
xref: EFO:1000791 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8280/0 {source="NCIT:C6780"}
xref: MEDGEN:1748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000239 {source="EFO:1000791", source="MONDO:equivalentTo", source="DOID:5392"}
xref: NCIT:C6780 {source="EFO:1000791", source="MONDO:equivalentTo", source="DOID:5392"}
xref: SCTID:21109002 {source="EFO:1000791", source="DOID:5392"}
xref: UMLS:C0001433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1748"}
is_a: MONDO:0006373 {source="DOID:5392", source="EFO:1000791"} ! pituitary gland adenoma
relationship: excluded_subClassOf MONDO:0004805 {source="DOID:5392", source="https://orcid.org/0000-0001-5208-3432"} ! leukocyte disorder

[Term]
id: MONDO:0006635
name: Acinetobacter infectious disease
def: "Infections with bacteria of the genus acinetobacter." [MESH:D000151]
subset: otar {source="MONDO:OTAR"}
synonym: "Acinetobacter caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Acinetobacter disease or disorder" EXACT []
synonym: "Acinetobacter infection" RELATED [MESH:D000151]
synonym: "infection, Acinetobacter" RELATED [MESH:D000151]
synonym: "infection, Mimae" RELATED [MESH:D000151]
synonym: "infections, Acinetobacter" RELATED [MESH:D000151]
synonym: "infections, Mimae" RELATED [MESH:D000151]
synonym: "Mimae infection" RELATED [MESH:D000151]
synonym: "Mimae infections" RELATED [MESH:D000151]
xref: DOID:3091 {source="EFO:1000792", source="MONDO:equivalentTo", source="MONDO:obsolete"}
xref: EFO:1000792 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000151 {source="EFO:1000792", source="MONDO:equivalentTo"}
xref: UMLS:C0001139 {source="MONDO:equivalentTo", source="MEDGEN:1299", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1000792", source="MESH:D000151/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:469 ! Acinetobacter

[Term]
id: MONDO:0006636
name: Actinobacillus infectious disease
def: "Infections with bacteria of the genus actinobacillus." [MESH:D000189]
synonym: "Actinobacillus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Actinobacillus disease or disorder" EXACT []
synonym: "Actinobacillus infection" RELATED [MESH:D000189]
synonym: "infection, Actinobacillus" RELATED [MESH:D000189]
synonym: "infections, Actinobacillus" RELATED [MESH:D000189]
xref: DOID:4975 {source="EFO:1000793", source="MONDO:obsolete"}
xref: MESH:D000189 {source="EFO:1000793", source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1000793", source="MESH:D000189/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:713 ! Actinobacillus

[Term]
id: MONDO:0006637
name: acute kidney tubular necrosis
def: "Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute renal failure with lesion of tubular necrosis" EXACT [DOID:12556, ICD9CM:584.5]
synonym: "acute renal failure with tubular necrosis" EXACT [DOID:12556, NCIT:C34749]
synonym: "acute tubular necrosis" EXACT [DOID:12556]
synonym: "acute tubule necrosis" EXACT [DOID:12556]
synonym: "ATN - acute tubular necrosis" EXACT [DOID:12556]
xref: DOID:12556 {source="MONDO:equivalentTo", source="EFO:1000794"}
xref: EFO:1000794 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0008682 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N17.0 {source="DOID:12556", source="EFO:1000794"}
xref: ICD9:584.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10023441 {source="EFO:1000794"}
xref: MEDGEN:7213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007683 {source="DOID:12556", source="MONDO:equivalentTo", source="EFO:1000794"}
xref: NCIT:C34749 {source="DOID:12556", source="MONDO:equivalentTo", source="EFO:1000794"}
xref: SCTID:197649009 {source="DOID:12556"}
xref: SCTID:23697004 {source="DOID:12556", source="MONDO:relatedTo"}
xref: SCTID:35455006 {source="DOID:12556", source="MONDO:equivalentTo"}
xref: UMLS:C0022672 {source="MEDGEN:7213", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002492 {source="DOID:12556", source="MESH:D007683", source="NCIT:C34749"} ! acute kidney failure
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0006638
name: acute retinal necrosis syndrome
def: "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." [MESH:D015882]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute retinal necrosis" EXACT [DOID:3611]
xref: DOID:3611 {source="EFO:1000795", source="MONDO:equivalentTo"}
xref: EFO:1000795 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:48434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015882 {source="EFO:1000795", source="MONDO:equivalentTo", source="DOID:3611"}
xref: SCTID:231986000 {source="EFO:1000795", source="MONDO:equivalentTo", source="DOID:3611"}
xref: UMLS:C0035319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48434"}
is_a: MONDO:0002708 {source="DOID:3611", source="MESH:D015882"} ! retinitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0006639
name: adrenal cortex carcinoma
def: "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." [NCIT:C9325]
comment: NCIT treats carcinoma and adenocarcinoma as synonyms.
subset: gard_rare {source="GARD:558", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:733"}
subset: ordo_disorder {source="Orphanet:1501"}
subset: orphanet_rare {source="Orphanet:1501"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACC" EXACT ABBREVIATION [ONCOTREE:ACC]
synonym: "adenocarcinoma, adrenocortical, malignant" EXACT [NCIT:C9325]
synonym: "Adenoid Cystic Carcinoma" EXACT [NORD:733]
synonym: "adrenal cortex adenocarcinoma" EXACT [DOID:3959, NCIT:C9325, NCIT:C9326]
synonym: "adrenal cortex cancer" BROAD [NCIT:C9325]
synonym: "adrenal cortex carcinoma" EXACT [MONDO:patterns/location, NCIT:C9325]
synonym: "adrenal cortical adenocarcinoma" EXACT [DOID:3959, MONDO:0002818, NCIT:C9325]
synonym: "adrenal cortical carcinoma" EXACT [NCIT:C9325]
synonym: "adrenal cortical carcinoma (morphologic abnormality)" EXACT [DOID:3948]
synonym: "adrenal cortical tumors" BROAD [DOID:660]
synonym: "adrenal cortical tumours" BROAD OMO:0003005 []
synonym: "adrenocortical cancer" BROAD [NCIT:C9325]
synonym: "adrenocortical carcinoma" EXACT [MONDO:0015460, MONDO:ambiguous, NCIT:C9325]
synonym: "adrenocortical carcinoma (disease)" EXACT [MONDO:0005241]
synonym: "adrenocortical carcinoma, NOS" RELATED EXCLUDE [NCIT:C9325]
synonym: "cancer of the adrenal cortex" BROAD [NCIT:C9325]
synonym: "carcinoma of adrenal cortex" EXACT [MONDO:patterns/carcinoma, NCIT:C9325]
synonym: "carcinoma of the adrenal cortex" EXACT [DOID:3948, NCIT:C9325]
synonym: "carcinoma, adrenocortical, malignant" EXACT [NCIT:C9325]
synonym: "cortical cell carcinoma" EXACT [NCIT:C9325]
synonym: "malignant adrenocortical tumor" BROAD [DOID:660, NCIT:C9327]
synonym: "malignant adrenocortical tumour" BROAD OMO:0003005 []
synonym: "malignant neoplasm of adrenal cortex" BROAD [DOID:660]
synonym: "malignant tumor of adrenal cortex" BROAD [DOID:660]
synonym: "malignant tumour of adrenal cortex" BROAD OMO:0003005 []
synonym: "neoplasm of adrenal cortex" BROAD EXCLUDE [DOID:660]
xref: DOID:3948 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0003093"}
xref: DOID:3959 {source="MONDO:equivalentTo"}
xref: DOID:660 {source="MONDO:equivalentTo", source="EFO:1000796"}
xref: EFO:1000796 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:558 {source="MONDO:GARD"}
xref: HP:0006744 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C74.0 {source="Orphanet:1501", source="DOID:660", source="Orphanet:1501/e"}
xref: ICDO:8370/3 {source="NCIT:C9325"}
xref: MedDRA:10001388 {source="Orphanet:1501", source="Orphanet:1501/e"}
xref: MEDGEN:104917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000306 {source="EFO:1000796", source="DOID:660"}
xref: MESH:D018268 {source="Orphanet:1501", source="EFO:0003093", source="DOID:3948", source="Orphanet:1501/e"}
xref: NANDO:2200073 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2858 {source="MONDO:relatedTo", source="DOID:660"}
xref: NCIT:C9325 {source="MONDO:equivalentTo", source="EFO:1000796", source="EFO:0003093", source="DOID:3948"}
xref: NCIT:C9327 {source="DOID:660"}
xref: NORD:733 {source="MONDO:NORD"}
xref: ONCOTREE:ACC {source="MONDO:equivalentTo"}
xref: Orphanet:1501 {source="MONDO:equivalentTo"}
xref: SCTID:127022002 {source="DOID:660"}
xref: SCTID:18365006 {source="DOID:660"}
xref: SCTID:189645007 {source="DOID:660"}
xref: SCTID:189648009 {source="DOID:660"}
xref: SCTID:2227007 {source="DOID:660", source="DOID:3948"}
xref: SCTID:255035007 {source="MONDO:equivalentTo", source="DOID:3948"}
xref: SCTID:363479004 {source="DOID:660"}
xref: SCTID:371964008 {source="DOID:660"}
xref: SCTID:93664009 {source="DOID:660"}
xref: UMLS:C0206686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104917"}
is_a: MONDO:0004970 {source="DOID:3959", source="MONDO:Redundant", source="NCIT:C9325"} ! adenocarcinoma
is_a: MONDO:0005240 {source="MONDO:0019748-obsoleted"} ! kidney disorder
is_a: MONDO:0005385 {source="MONDO:0019748-obsoleted"} ! vascular disorder
is_a: MONDO:0021069 {source="DOID:3948/inferred", source="DOID:3959/inferred", source="DOID:660/inferred", source="MONDO:Redundant", source="NCIT:C9325"} ! malignant endocrine neoplasm
is_a: MONDO:0021227 {source="Orphanet:1501"} ! adrenal gland neoplasm
is_a: MONDO:0021312 {source="MONDO:Redundant", source="NCIT:C9325"} ! malignant tumor of adrenal cortex
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex
relationship: disease_has_location UBERON:0001235 {source="EFO:0000784"} ! adrenal cortex
relationship: excluded_subClassOf MONDO:0018627 {source="Orphanet:1501", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor

[Term]
id: MONDO:0006640
name: adrenal gland hyperfunction
def: "Excess production of adrenal cortex hormones." [MESH:D000308]
subset: otar {source="MONDO:OTAR"}
synonym: "adrenal gland hyperfunction" EXACT [MESH:D000308]
synonym: "adrenocortical hyperfunction" EXACT [DOID:3947]
synonym: "disorder of corticoadrenal overactivity" RELATED []
synonym: "hyperadrenalism" EXACT [DOID:3947, MESH:D000308]
synonym: "hyperadrenocorticism" RELATED [MESH:D000308]
synonym: "hypercorticism" RELATED [MESH:D000308]
synonym: "hypercortisolemia" EXACT [NCIT:C113208]
synonym: "hypercortisolism" EXACT [DOID:3947]
synonym: "hyperfunction, adrenal gland" RELATED [MESH:D000308]
synonym: "hyperfunction, adrenocortical" RELATED [MESH:D000308]
xref: DOID:3947 {source="MONDO:equivalentTo", source="EFO:1000797"}
xref: EFO:1000797 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0003118 {source="MONDO:otherHierarchy"}
xref: ICD9:255.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000308 {source="MONDO:equivalentTo", source="EFO:1000797", source="DOID:3947"}
xref: NCIT:C113208 {source="MONDO:otherHierarchy", source="DOID:3947"}
xref: SCTID:111561007 {source="DOID:3947"}
xref: SCTID:190520005 {source="DOID:3947"}
xref: SCTID:275437005 {source="MONDO:equivalentTo", source="DOID:3947"}
xref: SCTID:47270006 {source="DOID:3947"}
xref: UMLS:C0001622 {source="MONDO:equivalentTo", source="MEDGEN:7899", source="MONDO:MEDGEN"}
is_a: MONDO:0002816 {source="DOID:3947"} ! adrenal cortex disorder
is_a: MONDO:0005495 {source="DOID:3947/inferred", source="MESH:D000308"} ! adrenal gland disorder
relationship: disease_has_feature HP:0002717 ! Adrenal overactivity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3376" xsd:anyURI

[Term]
id: MONDO:0006641
name: afferent loop syndrome
def: "A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid." [MESH:D000343]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8438 {source="MONDO:equivalentTo", source="EFO:1000799"}
xref: EFO:1000799 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:537.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056245 {source="EFO:1000799"}
xref: MEDGEN:161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000343 {source="DOID:8438", source="MONDO:equivalentTo", source="EFO:1000799"}
xref: SCTID:20813000 {source="DOID:8438", source="MONDO:equivalentTo", source="EFO:1000799"}
xref: UMLS:C0001727 {source="MEDGEN:161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004566 {source="DOID:8438"} ! postgastrectomy syndrome

[Term]
id: MONDO:0006642
name: alcohol withdrawal delirium
def: "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" [MESH:D000430]
subset: otar {source="MONDO:OTAR"}
synonym: "alcohol withdrawal associated autonomic hyperactivity" RELATED [MESH:D000430]
synonym: "alcohol withdrawal hallucinosis" RELATED [MESH:D000430]
synonym: "alcohol withdrawal induced delirium Tremens" RELATED [MESH:D000430]
synonym: "alcohol withdrawal-induced delirium Tremens" RELATED [MESH:D000430]
synonym: "autonomic hyperactivity, alcohol withdrawal associated" RELATED [MESH:D000430]
synonym: "delirium Tremens" RELATED DEPRECATED [MESH:D000430]
synonym: "delirium Tremens, alcohol withdrawal induced" RELATED DEPRECATED [MESH:D000430]
synonym: "delirium, alcohol withdrawal" RELATED DEPRECATED [MESH:D000430]
synonym: "hallucinosis, alcohol withdrawal" RELATED [MESH:D000430]
xref: DOID:8639 {source="MONDO:obsolete", source="EFO:1000800"}
xref: EFO:1000800 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:291.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000800"}
xref: MedDRA:10001610 {source="EFO:1000800"}
xref: MEDGEN:1398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000430 {source="MONDO:equivalentTo", source="EFO:1000800"}
xref: SCTID:8635005 {source="MONDO:equivalentTo", source="EFO:1000800"}
xref: UMLS:C0001957 {source="MONDO:equivalentTo", source="MEDGEN:1398", source="MONDO:MEDGEN"}
is_a: MONDO:0005084 {source="EFO:1000800", source="MONDO:Redundant"} ! mental disorder
is_a: MONDO:0005433 {source="https://orcid.org/0000-0002-6601-2165"} ! alcohol withdrawal
is_a: MONDO:0005567 {source="MESH:D000430", source="MONDO:0006642/inferred", source="MONDO:Redundant"} ! substance withdrawal syndrome
is_a: MONDO:0021698 {source="MESH:D000430", source="MESH:D000430/inferred"} ! alcohol-related disorders
relationship: disease_has_major_feature HP:0031258 ! Delirium

[Term]
id: MONDO:0006643
name: alcoholic cardiomyopathy
def: "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alcohol-induced heart muscle disease" EXACT [DOID:12935]
synonym: "alcoholic cardiomyopathy" EXACT [DOID:12935, ICD9CM:425.5]
synonym: "dilated cardiomyopathy secondary to alcohol" EXACT [DOID:12935]
xref: DOID:12935 {source="MONDO:equivalentTo", source="EFO:1000801"}
xref: EFO:1000801 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I42.6 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"}
xref: ICD9:425.5 {source="DOID:12935", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10001616 {source="EFO:1000801"}
xref: MEDGEN:2879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002310 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"}
xref: NCIT:C53653 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"}
xref: SCTID:155352001 {source="DOID:12935"}
xref: SCTID:83521008 {source="DOID:12935", source="MONDO:equivalentTo", source="EFO:1000801"}
xref: UMLS:C0007192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2879"}
is_a: MONDO:0002824 {source="DOID:12935"} ! extrinsic cardiomyopathy
is_a: MONDO:0004994 {source="DOID:12935/inferred", source="EFO:1000801", source="ICD10CM:I42.6", source="MESH:D002310", source="MONDO:Redundant", source="NCIT:C53653"} ! cardiomyopathy
is_a: MONDO:0021699 {source="MESH:D002310", source="MONDO:Entailed"} ! alcohol-induced disorders
intersection_of: MONDO:0004994 ! cardiomyopathy
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0006644
name: alcoholic liver cirrhosis
def: "A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "alcoholic cirrhosis" EXACT [DOID:14018, NCIT:C34782]
synonym: "alcoholic cirrhosis of liver" EXACT [DOID:14018, ICD9CM:571.2]
synonym: "Laennec's cirrhosis" RELATED [DOID:14018]
synonym: "Laennec's cirrhosis, alcoholic" RELATED [DOID:14018]
synonym: "portal cirrhosis" RELATED [DOID:14018]
xref: CSP:1754-7677 {source="DOID:14018"}
xref: DOID:14018 {source="MONDO:equivalentTo", source="EFO:1000802"}
xref: EFO:1000802 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K70.3 {source="MONDO:equivalentTo", source="DOID:14018", source="EFO:1000802"}
xref: ICD9:571.2 {source="DOID:14018"}
xref: MedDRA:10001618 {source="EFO:1000802"}
xref: MEDGEN:6125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008104 {source="MONDO:equivalentTo", source="DOID:14018", source="EFO:1000802"}
xref: NCIT:C34782 {source="MONDO:equivalentTo", source="DOID:14018", source="EFO:1000802"}
xref: SCTID:155811002 {source="DOID:14018"}
xref: SCTID:197280008 {source="DOID:14018"}
xref: SCTID:235894003 {source="DOID:14018"}
xref: SCTID:266467008 {source="DOID:14018"}
xref: SCTID:419728003 {source="MONDO:equivalentTo"}
xref: SCTID:420054005 {source="DOID:14018", source="EFO:1000802"}
xref: SCTID:75393009 {source="DOID:14018"}
xref: UMLS:C0023891 {source="MEDGEN:6125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005155 {source="DOID:14018", source="EFO:1000802", source="MESH:D008104", source="MONDO:Redundant", source="NCIT:C34782"} ! cirrhosis of liver
intersection_of: MONDO:0005155 ! cirrhosis of liver
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0006645
name: alcoholic polyneuropathy
def: "Any disease affecting more than one nerve." []
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alcohol-related polyneuropathy" EXACT [DOID:14183]
synonym: "alcoholic neuropathy" EXACT [DOID:14183]
xref: DOID:14183 {source="MONDO:equivalentTo", source="EFO:1000803"}
xref: EFO:1000803 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G62.1 {source="DOID:14183", source="MONDO:equivalentTo"}
xref: ICD9:357.5 {source="DOID:14183", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:39087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020269 {source="DOID:14183", source="MONDO:equivalentTo", source="EFO:1000803"}
xref: NCIT:C26926 {source="DOID:14183", source="MONDO:equivalentTo"}
xref: SCTID:123050003 {source="DOID:14183"}
xref: SCTID:155083006 {source="DOID:14183"}
xref: SCTID:7916009 {source="DOID:14183", source="MONDO:equivalentTo"}
xref: UMLS:C0085677 {source="MEDGEN:39087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0001824 ! polyneuropathy
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14183", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inflammatory and toxic neuropathy

[Term]
id: MONDO:0006646
name: angioleiomyoma
def: "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." [NCIT:C3747]
subset: otar {source="MONDO:OTAR"}
synonym: "angioleiomyoma" EXACT [MONDO:0006084, NCIT:C3747]
synonym: "angiomyoma" EXACT [NCIT:C3747]
synonym: "angiomyoma (morphologic abnormality)" EXACT [DOID:4265]
synonym: "vascular leiomyoma" EXACT [DOID:4265, NCIT:C3747]
xref: DOID:4265 {source="EFO:1000806", source="MONDO:equivalentTo"}
xref: EFO:1000084 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8894/0 {source="NCIT:C3747"}
xref: MEDGEN:60202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018229 {source="DOID:4265", source="EFO:1000806", source="MONDO:equivalentTo"}
xref: NCIT:C3747 {source="DOID:4265", source="EFO:1000084", source="EFO:1000806", source="MONDO:equivalentTo"}
xref: SCTID:86959002 {source="DOID:4265", source="EFO:1000806"}
xref: UMLS:C0206653 {source="MEDGEN:60202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003342 {source="NCIT:C3747"} ! benign perivascular tumor
relationship: excluded_subClassOf MONDO:0001572 {source="DOID:4265", source="https://orcid.org/0000-0001-5208-3432"} ! leiomyoma

[Term]
id: MONDO:0006647
name: anterior cerebral artery infarction
def: "Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." [MESH:D020243]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3528 {source="EFO:1000807", source="MONDO:equivalentTo"}
xref: EFO:1000807 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:148402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020243 {source="EFO:1000807", source="MONDO:equivalentTo", source="DOID:3528"}
xref: UMLS:C0751843 {source="MONDO:equivalentTo", source="MEDGEN:148402", source="MONDO:MEDGEN"}
is_a: MONDO:0002679 {source="DOID:3528", source="MESH:D020243"} ! cerebral infarction

[Term]
id: MONDO:0006648
name: anterior compartment of tibia syndrome
def: "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." [MESH:D000868]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anterior compartment syndrome" EXACT [DOID:3933]
xref: DOID:3933 {source="EFO:1000808", source="MONDO:equivalentTo"}
xref: ICD10CM:M76.81 {source="DOID:3933"}
xref: MEDGEN:1569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000868 {source="EFO:1000808", source="MONDO:equivalentTo", source="DOID:3933"}
xref: NCIT:C118422 {source="EFO:1000808"}
xref: SCTID:12694001 {source="EFO:1000808", source="MONDO:equivalentTo", source="DOID:3933"}
xref: SCTID:157669006 {source="DOID:3933"}
xref: SCTID:212379008 {source="DOID:3933"}
xref: SCTID:269407005 {source="DOID:3933"}
xref: UMLS:C0003152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1569"}
is_a: MONDO:0004001 {source="DOID:3933", source="MESH:D000868"} ! compartment syndrome
is_a: MONDO:0020120 {source="EFO:1000808", source="MESH:D000868/inferred"} ! skeletal muscle disorder

[Term]
id: MONDO:0006649
name: anterior ischemic optic neuropathy
def: "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." [https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy]
subset: gard_rare {source="GARD:9790", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aion" RELATED [GARD:0009790]
synonym: "ischaemic optic neuropathy" EXACT OMO:0003005 []
synonym: "ischemic optic neuropathy" EXACT [DOID:12010, ICD9CM:377.41]
synonym: "optic disc infarction leading to vision loss" RELATED OMO:0003005 []
synonym: "optic disk infarction leading to vision loss" RELATED []
xref: DOID:12010 {source="EFO:1000809", source="MONDO:equivalentTo"}
xref: EFO:1000809 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9790 {source="MONDO:GARD"}
xref: ICD10CM:H47.01 {source="DOID:12010"}
xref: ICD9:377.41 {source="DOID:12010"}
xref: MedDRA:10068250 {source="EFO:1000809"}
xref: MEDGEN:199716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018917 {source="EFO:1000809", source="MONDO:equivalentTo", source="DOID:12010"}
xref: SCTID:14357004 {source="DOID:12010"}
xref: SCTID:404659001 {source="EFO:1000809", source="MONDO:equivalentTo"}
xref: UMLS:C0751711 {source="MEDGEN:199716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002135 {source="DOID:12010", source="MESH:D018917"} ! optic nerve disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy" xsd:anyURI {source="GARD:0009790"}

[Term]
id: MONDO:0006650
name: anterior spinal artery syndrome
def: "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" [MESH:D020759]
subset: otar {source="MONDO:OTAR"}
synonym: "anterior spinal artery syndromic disease" EXACT [MONDO:patterns/location]
synonym: "syndromic disease of anterior spinal artery" EXACT []
xref: DOID:6712 {source="MONDO:equivalentTo", source="EFO:1000810"}
xref: EFO:1000810 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:433.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10002703 {source="EFO:1000810"}
xref: MEDGEN:65125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020759 {source="DOID:6712", source="MONDO:equivalentTo", source="EFO:1000810"}
xref: SCTID:14363008 {source="EFO:1000810"}
xref: SCTID:2972007 {source="DOID:6712", source="MONDO:equivalentTo"}
xref: UMLS:C0221069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65125"}
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_location UBERON:0005431 ! anterior spinal artery

[Term]
id: MONDO:0006651
name: anterior uveitis
def: "Inflammation of the iris and anterior chamber of the eye." [NCIT:C35109]
subset: disease_grouping
subset: gard_rare {source="GARD:10941", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:280886"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior uveitis" EXACT [MONDO:0017253, MONDO:ambiguous, NCIT:C35109]
synonym: "anterior uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "iridocyclitis" NARROW [Orphanet:280886]
xref: CSP:1114-9593 {source="DOID:1407"}
xref: DOID:1407 {source="MONDO:equivalentTo", source="EFO:1000811"}
xref: EFO:1000811 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10941 {source="MONDO:GARD"}
xref: HP:0012122 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H20.0 {source="Orphanet:280886/btnt", source="Orphanet:280886"}
xref: ICD10CM:H20.1 {source="Orphanet:280886/btnt", source="Orphanet:280886"}
xref: ICD10CM:H20.2 {source="Orphanet:280886/btnt", source="Orphanet:280886"}
xref: ICD10CM:H20.8 {source="Orphanet:280886/btnt", source="Orphanet:280886"}
xref: ICD10CM:H20.9 {source="Orphanet:280886/btnt", source="Orphanet:280886"}
xref: icd11.foundation:908233081 {source="MONDO:equivalentTo", source="Orphanet:280886"}
xref: MedDRA:10002709 {source="Orphanet:280886/e", source="EFO:1000811", source="Orphanet:280886"}
xref: MEDGEN:22595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014606 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811"}
xref: NCIT:C35109 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811", source="NCIT:C35109"}
xref: Orphanet:280886 {source="MONDO:equivalentTo"}
xref: SCTID:193500005 {source="DOID:1407"}
xref: SCTID:231946008 {source="DOID:1407"}
xref: SCTID:410692006 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811"}
xref: SCTID:77971008 {source="DOID:1407"}
xref: UMLS:C0042165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22595"}
is_a: MONDO:0020283 {source="DOID:1407/inferred", source="NCIT:C35109", source="Orphanet:280886"} ! uveitis
property_value: IAO:0000589 "anterior uveitis (disease)" xsd:string

[Term]
id: MONDO:0006652
name: anterolateral myocardial infarction
def: "Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." [MESH:D056988]
comment: Editor note: todo - create uberon class
subset: otar {source="MONDO:OTAR"}
synonym: "acute anterior wall myocardial infarction" RELATED [MESH:D056988]
synonym: "anterolateral myocardial infarction" EXACT [MESH:D056988]
synonym: "anterolateral myocardial infarctions" RELATED [MESH:D056988]
synonym: "anteroseptal myocardial infarction" RELATED [MESH:D056988]
synonym: "anteroseptal myocardial infarctions" RELATED [MESH:D056988]
synonym: "infarction, anterolateral myocardial" RELATED [MESH:D056988]
synonym: "infarction, anteroseptal myocardial" RELATED [MESH:D056988]
synonym: "infarctions, anterolateral myocardial" RELATED [MESH:D056988]
synonym: "infarctions, anteroseptal myocardial" RELATED [MESH:D056988]
synonym: "myocardial infarction, anterior wall" RELATED [MESH:D056988]
synonym: "myocardial infarction, anterolateral" RELATED [MESH:D056988]
synonym: "myocardial infarction, anteroseptal" RELATED [MESH:D056988]
synonym: "myocardial infarctions, anterolateral" RELATED [MESH:D056988]
synonym: "myocardial infarctions, anteroseptal" RELATED [MESH:D056988]
xref: DOID:5845 {source="MONDO:equivalentTo", source="EFO:1000812"}
xref: EFO:1000812 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10068109 {source="EFO:1000812"}
xref: MEDGEN:78086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056988 {source="DOID:5845", source="MONDO:equivalentTo", source="EFO:1000812"}
xref: UMLS:C0262564 {source="MONDO:equivalentTo", source="MEDGEN:78086", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5845", source="EFO:1000812", source="MESH:D056988"} ! myocardial infarction

[Term]
id: MONDO:0006653
name: anthracosilicosis
def: "Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: CSP:2596-4484 {source="DOID:10324"}
xref: DOID:10324 {source="MONDO:equivalentTo", source="EFO:1000813"}
xref: EFO:1000813 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J60 {source="DOID:10324"}
xref: MedDRA:10050363 {source="EFO:1000813"}
xref: MEDGEN:1958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000874 {source="DOID:10324", source="MONDO:equivalentTo", source="EFO:1000813"}
xref: NCIT:C34389 {source="DOID:10324", source="MONDO:equivalentTo", source="EFO:1000813"}
xref: SCTID:33548005 {source="DOID:10324", source="MONDO:equivalentTo", source="EFO:1000813"}
xref: UMLS:C0003164 {source="MEDGEN:1958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015926 {source="DOID:10324", source="EFO:1000813", source="MESH:D000874/inferred", source="NCIT:C34389"} ! pneumoconiosis

[Term]
id: MONDO:0006654
name: anthracosis
def: "A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "black lung" EXACT [DOID:10327]
synonym: "coal dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "coal miner's pneumoconiosis" EXACT [DOID:10327, NCIT:C34390]
synonym: "coal workers' lung" EXACT [DOID:10327]
synonym: "coal workers' pneumoconiosis" EXACT [DOID:10327, ICD9CM:500]
synonym: "melanoedema" EXACT [DOID:10327]
synonym: "pneumoconiosis from coal dust" EXACT []
xref: DOID:10327 {source="MONDO:equivalentTo", source="EFO:1000814"}
xref: EFO:1000814 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J60 {source="DOID:10327", source="EFO:1000814"}
xref: ICD9:500 {source="DOID:10327", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10073051 {source="EFO:1000814"}
xref: MEDGEN:8107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055008 {source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814"}
xref: NCIT:C34390 {source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814"}
xref: SCTID:155588007 {source="DOID:10327"}
xref: SCTID:29422001 {source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814"}
xref: UMLS:C0003165 {source="MEDGEN:8107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015926 {source="DOID:10327", source="EFO:1000814", source="MESH:D055008", source="MONDO:Redundant", source="NCIT:C34390"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:02000099 ! coal dust

[Term]
id: MONDO:0006655
name: aortic valve prolapse
def: "The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation." [MESH:D001023]
xref: DOID:5232 {source="EFO:1000815", source="MONDO:equivalentTo"}
xref: MedDRA:10057454 {source="EFO:1000815"}
xref: MEDGEN:1619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001023 {source="EFO:1000815", source="MONDO:equivalentTo", source="DOID:5232"}
xref: UMLS:C0003505 {source="MEDGEN:1619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003803 {source="DOID:5232"} ! aortic valve disorder
is_a: MONDO:0005561 {source="EFO:1000815", source="MONDO:Redundant", source="MONDO:indirect"} ! aortic disorder

[Term]
id: MONDO:0006656
name: aortitis
def: "Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aorta inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of aorta" EXACT []
xref: DOID:519 {source="EFO:1000816", source="MONDO:equivalentTo"}
xref: EFO:1000816 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I77.6 {source="DOID:519"}
xref: MedDRA:10002921 {source="EFO:1000816"}
xref: MEDGEN:8154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001025 {source="EFO:1000816", source="MONDO:equivalentTo", source="DOID:519"}
xref: NANDO:1200251 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200423 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C97085 {source="EFO:1000816", source="MONDO:equivalentTo", source="DOID:519"}
xref: SCTID:195368003 {source="DOID:519"}
xref: SCTID:70933002 {source="EFO:1000816", source="MONDO:equivalentTo", source="DOID:519"}
xref: UMLS:C0003509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8154"}
is_a: MONDO:0005561 {source="DOID:519", source="EFO:1000816", source="MESH:D001025", source="MONDO:Redundant"} ! aortic disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000947 ! aorta

[Term]
id: MONDO:0006657
name: obsolete apparent mineralocorticoid excess syndrome
xref: NANDO:2100130 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200362 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4993" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009025

[Term]
id: MONDO:0006658
name: arteriolosclerosis
def: "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "arteriolosclerosis (morphologic abnormality)" EXACT [DOID:5162]
xref: DOID:5162 {source="EFO:1000819", source="MONDO:equivalentTo"}
xref: EFO:1000819 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I70 {source="DOID:5162", source="MONDO:directSiblingOf"}
xref: MEDGEN:209223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050379 {source="EFO:1000819", source="MONDO:equivalentTo", source="DOID:5162"}
xref: NCIT:C35543 {source="EFO:1000819", source="MONDO:equivalentTo", source="DOID:5162"}
xref: SCTID:17941002 {source="EFO:1000819", source="DOID:5162"}
xref: UMLS:C0878486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209223"}
is_a: MONDO:0002277 {source="DOID:5162", source="EFO:1000819", source="MESH:D050379", source="MONDO:Redundant", source="NCIT:C35543"} ! arteriosclerosis disorder
is_a: MONDO:0005010 {source="EFO:1000819", source="EFO:1000819/inferred", source="MONDO:Redundant"} ! coronary artery disorder

[Term]
id: MONDO:0006659
name: arteriosclerosis obliterans
def: "Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension." [MESH:D001162]
subset: otar {source="MONDO:OTAR"}
synonym: "arteriosclerosis obliterans (disorder) [ambiguous]" EXACT [DOID:5160]
xref: DOID:5160 {source="MONDO:equivalentTo", source="EFO:1000820"}
xref: EFO:1000820 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:440.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10065418 {source="EFO:1000820"}
xref: MEDGEN:13915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001162 {source="MONDO:equivalentTo", source="DOID:5160", source="EFO:1000820"}
xref: SCTID:361133006 {source="MONDO:equivalentTo", source="DOID:5160", source="EFO:1000820"}
xref: SCTID:60625000 {source="DOID:5160"}
xref: UMLS:C0003851 {source="MEDGEN:13915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002277 {source="DOID:5160", source="MESH:D001162", source="MONDO:Redundant"} ! arteriosclerosis disorder
is_a: MONDO:0005010 {source="EFO:1000820", source="EFO:1000820/inferred", source="MONDO:Redundant"} ! coronary artery disorder

[Term]
id: MONDO:0006660
name: arthus reaction
def: "A localized vasculitis resulting from deposition of antibody-antigen complexes." [NCIT:C34400]
comment: Editor note: DO classifies as type III, NCIT as type I
subset: otar {source="MONDO:OTAR"}
synonym: "arthus phenomenon" EXACT [DOID:1556, NCIT:C34400]
synonym: "arthus reaction" EXACT [NCIT:C34400]
synonym: "arthus reaction (function)" EXACT [DOID:1556]
synonym: "arthus type urticaria" EXACT [DOID:1556]
xref: DOID:1556 {source="MONDO:equivalentTo", source="EFO:1000821"}
xref: EFO:1000821 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:T78.41 {source="DOID:1556"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:995.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1556"}
xref: MedDRA:10003420 {source="EFO:1000821"}
xref: MEDGEN:2458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001183 {source="MONDO:equivalentTo", source="DOID:1556", source="EFO:1000821"}
xref: NCIT:C34400 {source="MONDO:equivalentTo", source="DOID:1556", source="EFO:1000821"}
xref: SCTID:29548007 {source="DOID:1556", source="EFO:1000821"}
xref: SCTID:402413008 {source="MONDO:equivalentTo", source="DOID:1556"}
xref: UMLS:C0003907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2458"}
is_a: MONDO:0007004 {source="DOID:1556", source="EFO:1000821", source="MESH:D001183"} ! type III hypersensitivity disease

[Term]
id: MONDO:0006661
name: obsolete ascorbic acid deficiency
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4684" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009412

[Term]
id: MONDO:0006662
name: aseptic meningitis
def: "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute aseptic meningitis" EXACT [DOID:12157]
synonym: "aseptic meningitis" EXACT [DOID:12157]
xref: DOID:12157 {source="MONDO:equivalentTo", source="EFO:1000823"}
xref: EFO:1000823 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G03.0 {source="DOID:12157"}
xref: MedDRA:10003458 {source="EFO:1000823"}
xref: MEDGEN:7534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008582 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823"}
xref: NCIT:C118299 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823"}
xref: SCTID:186490006 {source="DOID:12157"}
xref: SCTID:301770000 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823"}
xref: SCTID:58170007 {source="DOID:12157"}
xref: UMLS:C0025290 {source="MEDGEN:7534", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C118299"} ! meningitis
disjoint_from: MONDO:0006670 ! bacterial meningitis
relationship: excluded_subClassOf MONDO:0007015 {source="DOID:12157", source="https://orcid.org/0000-0001-5208-3432"} ! viral meningitis

[Term]
id: MONDO:0006663
name: perinatal asphyxia
def: "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." [https://www.ncbi.nlm.nih.gov/books/NBK430782/]
comment: Pathophysiology: There are three stages to brain injury in hypoxic-ischemic encephalopathy. First, there is an immediate primary neuronal injury that occurs due to interruption of oxygen and glucose to the brain. This decreases ATP and results in failure of the ATP-dependent NaK pump. Sodium enters the cell followed by water, causing cell swelling, widespread depolarization, and cell death. Cell death and lysis cause release of glutamate, an excitatory amino acid, which causes an increase in intracellular calcium and further cell death. Following the immediate injury is a latent period of about six hours, during which reperfusion occurs, and some cells recover. Late secondary neuronal injury occurs over the next 24-48 hours as reperfusion results in blood flow to and from damaged areas, spreading toxic neurotransmitters and widening the area of brain affected.[NBK430782]
subset: gard_rare {source="GARD:19875", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:137577"}
subset: orphanet_rare {source="Orphanet:137577"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asphyxia - birth" EXACT [DOID:11088]
synonym: "asphyxia neonatorum" EXACT [MESH:D001238]
synonym: "asphyxia, in liveborn infant" EXACT [DOID:11088]
synonym: "birth asphyxia" EXACT [DOID:11088]
synonym: "birth depression" EXACT [NCIT:C116313]
synonym: "fetal asphyxia" EXACT [NCIT:C116313]
synonym: "foetal asphyxia" EXACT OMO:0003005 []
synonym: "HIE" EXACT [Orphanet:137577]
synonym: "hypoxia neonatorum" EXACT [GARD:0005857]
synonym: "hypoxic and ischaemic brain injury in the newborn" RELATED OMO:0003005 []
synonym: "hypoxic and ischemic brain injury in the newborn" RELATED [Orphanet:137577]
synonym: "hypoxic-ischemic encephalopathy" EXACT [Orphanet:137577]
synonym: "intrapartum asphyxia" EXACT [NCIT:C116313]
synonym: "neonatal hypoxic and ischaemic brain injury" RELATED OMO:0003005 []
synonym: "neonatal hypoxic and ischemic brain injury" RELATED [Orphanet:137577]
synonym: "perinatal asphyxia" EXACT [NCIT:C116313]
synonym: "perinatal depression" EXACT [NCIT:C116313]
synonym: "perinatal hypoxia" EXACT [Orphanet:137577]
synonym: "postnatal asphyxia" EXACT [DOID:11088]
xref: DOID:11088 {source="MONDO:equivalentTo", source="EFO:1000824"}
xref: EFO:1000824 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19875 {source="MONDO:GARD"}
xref: ICD10CM:P84 {source="DOID:11088"}
xref: icd11.foundation:1281282034 {source="Orphanet:137577", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:768.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11088"}
xref: MEDGEN:2469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001238 {source="MONDO:equivalentTo", source="DOID:11088", source="EFO:1000824"}
xref: NCIT:C116313 {source="MONDO:equivalentTo"}
xref: Orphanet:137577 {source="MONDO:equivalentTo"}
xref: SCTID:157098009 {source="DOID:11088"}
xref: SCTID:206278008 {source="DOID:11088"}
xref: SCTID:268831004 {source="DOID:11088"}
xref: SCTID:268873007 {source="DOID:11088"}
xref: SCTID:28314004 {source="MONDO:equivalentTo", source="DOID:11088", source="EFO:1000824"}
xref: SCTID:413654009 {source="DOID:11088"}
xref: UMLS:C0004045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2469"}
is_a: MONDO:0005087 {source="DOID:11088", source="EFO:1000824"} ! respiratory system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5857/asphyxia-neonatorum" xsd:anyURI {source="GARD:0005857"}

[Term]
id: MONDO:0006664
name: atrial septal defect
def: "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." [Orphanet:1478]
subset: gard_rare {source="GARD:15018", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:820"}
subset: ordo_disorder {source="Orphanet:1478"}
subset: ordo_morphological_anomaly {source="Orphanet:1478"}
subset: orphanet_rare {source="Orphanet:1478"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASD" EXACT ABBREVIATION [Orphanet:1478]
synonym: "atrial septal defect" EXACT [DOID:1882, Orphanet:1478]
synonym: "Atrial Septal Defects" EXACT [NORD:820]
synonym: "atrial septum defect" EXACT [NCIT:C84473]
synonym: "atrioseptal defect" EXACT [DOID:1882]
synonym: "auricular septal defect" EXACT [DOID:1882]
synonym: "congenital atrial septal defect" EXACT [DOID:1882]
synonym: "interatrial communication" RELATED [Orphanet:1478]
synonym: "interatrial septal defect" EXACT [DOID:1882]
synonym: "interauricular communication" EXACT [Orphanet:1478]
synonym: "interauricular septal defect" EXACT [DOID:1882]
xref: DOID:1882 {source="MONDO:equivalentTo", source="EFO:1000825"}
xref: EFO:1000825 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:15018 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="DOID:1882", source="Orphanet:1478", source="Orphanet:1478/specific", source="Orphanet:1478/e"}
xref: MedDRA:10003664 {source="Orphanet:1478", source="Orphanet:1478/e"}
xref: MedDRA:10019308 {source="EFO:1000825"}
xref: MedDRA:10068864 {source="Orphanet:1478", source="Orphanet:1478/e"}
xref: MEDGEN:6753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006344 {source="DOID:1882", source="MONDO:equivalentTo", source="Orphanet:1478", source="Orphanet:1478/e", source="EFO:1000825"}
xref: NANDO:2100085 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84473 {source="DOID:1882", source="MONDO:equivalentTo", source="EFO:1000825"}
xref: NORD:820 {source="MONDO:NORD"}
xref: OMIMPS:108800 {source="DOID:1882", source="MONDO:equivalentTo"}
xref: Orphanet:1478 {source="DOID:1882", source="MONDO:equivalentTo"}
xref: SCTID:156915002 {source="DOID:1882"}
xref: SCTID:204316004 {source="DOID:1882"}
xref: SCTID:253366007 {source="DOID:1882", source="MONDO:equivalentTo"}
xref: SCTID:253368008 {source="DOID:1882"}
xref: SCTID:268178001 {source="DOID:1882"}
xref: SCTID:405752007 {source="DOID:1882", source="EFO:1000825"}
xref: SCTID:69524004 {source="DOID:1882"}
xref: SCTID:70142008 {source="DOID:1882"}
xref: UMLS:C0018817 {source="MEDGEN:6753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002078 {source="DOID:1882", source="MESH:D006344"} ! heart septal defect
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:108800"} ! inherited

[Term]
id: MONDO:0006665
name: chronic atrophic gastritis
def: "Atrophic gastritis that is persistent and long-standing." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "atrophic Gastritides" EXACT [MESH:D005757]
synonym: "atrophic gastritis" EXACT [MESH:D005757]
synonym: "gastric atrophy" EXACT [DOID:8929, NCIT:C7405]
synonym: "Gastritides, atrophic" EXACT [MESH:D005757]
xref: DOID:8929 {source="EFO:1000826", source="MONDO:equivalentTo"}
xref: EFO:1000826 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K29.4 {source="MONDO:equivalentTo", source="DOID:8929"}
xref: ICD9:535.1 {source="EFO:1000826", source="DOID:8929"}
xref: ICD9:535.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:535.11 {source="DOID:8929"}
xref: MedDRA:10003685 {source="EFO:1000826"}
xref: MEDGEN:42157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005757 {source="EFO:1000826", source="MONDO:equivalentTo", source="DOID:8929"}
xref: NCIT:C7405 {source="MONDO:equivalentTo", source="DOID:8929"}
xref: SCTID:155713006 {source="DOID:8929"}
xref: SCTID:196733008 {source="DOID:8929"}
xref: SCTID:270533009 {source="DOID:8929"}
xref: SCTID:84568007 {source="EFO:1000826", source="MONDO:equivalentTo", source="DOID:8929"}
xref: UMLS:C0017154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42157"}
is_a: MONDO:0004966 {source="DOID:8929", source="EFO:1000826", source="MESH:D005757", source="MONDO:Redundant", source="NCIT:C7405/inferred"} ! gastritis
is_a: MONDO:0005001 {source="NCIT:C7405"} ! chronic gastritis

[Term]
id: MONDO:0006666
name: atrophy of thyroid
def: "Tissue degeneration and diminished size of the thyroid gland." [NCIT:C26942]
subset: otar {source="MONDO:OTAR"}
synonym: "thyroid atrophy" EXACT [NCIT:C26942]
synonym: "thyroid gland atrophy" EXACT [NCIT:C26942]
xref: DOID:2853 {source="EFO:1000827", source="MONDO:obsolete"}
xref: EFO:1000827 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E03.4 {source="EFO:1000827"}
xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10043693 {source="EFO:1000827"}
xref: MEDGEN:453383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050033 {source="EFO:1000827"}
xref: NCIT:C26942 {source="MONDO:equivalentTo"}
xref: SCTID:190309006 {source="MONDO:equivalentTo"}
xref: UMLS:C2981141 {source="MEDGEN:453383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="EFO:1000827", source="NCIT:C26942/inferred"} ! thyroid gland disorder

[Term]
id: MONDO:0006667
name: obsolete B- and T-cell mixed leukemia
is_obsolete: true
replaced_by: MONDO:0020322

[Term]
id: MONDO:0006668
name: bacterial conjunctivitis
def: "Inflammation of the conjunctiva caused by a variety of bacterial agents." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Bacteria caused conjunctival disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria conjunctival disease" EXACT []
synonym: "purulent conjunctivitis" EXACT [DOID:9700]
xref: DOID:9700 {source="EFO:1000829", source="MONDO:equivalentTo"}
xref: EFO:1000829 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H10.0 {source="DOID:9700"}
xref: ICD9:372.03 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10061784 {source="EFO:1000829"}
xref: MEDGEN:3209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003234 {source="DOID:9700", source="EFO:1000829", source="MONDO:equivalentTo"}
xref: NCIT:C53656 {source="DOID:9700", source="EFO:1000829", source="MONDO:equivalentTo"}
xref: SCTID:128350005 {source="DOID:9700", source="EFO:1000829"}
xref: SCTID:17482009 {source="DOID:9700"}
xref: SCTID:193877001 {source="DOID:9700"}
xref: SCTID:243321006 {source="DOID:9700", source="MONDO:equivalentTo"}
xref: SCTID:243462001 {source="DOID:9700"}
xref: UMLS:C0009768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3209"}
is_a: MONDO:0003799 {source="DOID:9700", source="MESH:D003234", source="NCIT:C53656/inferred"} ! conjunctivitis
is_a: MONDO:0005113 {source="MESH:D003234/inferred", source="MONDO:Redundant", source="NCIT:C53656"} ! bacterial infectious disease
is_a: MONDO:0006170 {source="EFO:1000829", source="NCIT:C53656/inferred"} ! conjunctival disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria
intersection_of: disease_has_inflammation_site UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0006669
name: bacterial endocarditis
def: "Endocarditis that is caused by an infection with a bacterial agent." [NCIT:C128359]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bacteria caused endocarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria endocarditis (disease)" EXACT []
synonym: "bacterial endocarditis" EXACT [MONDO:ambiguous]
synonym: "bacterial endocarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:762 {source="EFO:1000830", source="MONDO:obsolete"}
xref: EFO:1000830 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0006689 {source="MONDO:otherHierarchy"}
xref: MedDRA:10004019 {source="EFO:1000830"}
xref: MEDGEN:41779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004697 {source="MONDO:equivalentTo", source="EFO:1000830"}
xref: NCIT:C128359 {source="MONDO:equivalentTo"}
xref: SCTID:301183007 {source="MONDO:equivalentTo", source="EFO:1000830"}
xref: UMLS:C0014121 {source="MEDGEN:41779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005025 {source="EFO:1000830", source="MESH:D004697", source="MONDO:Entailed", source="NCIT:C128359"} ! endocarditis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria
intersection_of: disease_has_inflammation_site UBERON:0002165 ! endocardium
property_value: IAO:0000589 "bacterial endocarditis (disease)" xsd:string

[Term]
id: MONDO:0006670
name: bacterial meningitis
def: "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection." [NCIT:P378]
subset: gard_rare {source="GARD:5881", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bacteria caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria infectious meningitis" EXACT []
synonym: "meningitis, bacterial" RELATED [GARD:0005881]
xref: DOID:9470 {source="MONDO:equivalentTo", source="EFO:1000831"}
xref: EFO:1000831 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5881 {source="MONDO:GARD"}
xref: ICD10CM:G00 {source="DOID:9470"}
xref: ICD10CM:G00.9 {source="DOID:9470"}
xref: ICD9:320 {source="DOID:9470", source="EFO:1000831"}
xref: ICD9:320.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:320.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:320.9 {source="DOID:9470", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10004049 {source="EFO:1000831"}
xref: MEDGEN:39048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016920 {source="DOID:9470", source="MONDO:equivalentTo", source="EFO:1000831"}
xref: NCIT:C118297 {source="DOID:9470", source="MONDO:equivalentTo", source="EFO:1000831"}
xref: SCTID:154984006 {source="DOID:9470"}
xref: SCTID:192662001 {source="DOID:9470"}
xref: SCTID:267680008 {source="DOID:9470"}
xref: SCTID:95883001 {source="DOID:9470", source="MONDO:equivalentTo", source="EFO:1000831"}
xref: UMLS:C0085437 {source="MEDGEN:39048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004796 {source="DOID:9470", source="EFO:1000831", source="MESH:D016920", source="MONDO:Redundant", source="NCIT:C118297"} ! infectious meningitis
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis" xsd:anyURI {source="GARD:0005881"}

[Term]
id: MONDO:0006671
name: Bacteroides infectious disease
def: "Infections with bacteria of the genus bacteroides." [MESH:D001442]
subset: otar {source="MONDO:OTAR"}
synonym: "Bacteroides caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteroides disease or disorder" EXACT []
synonym: "Bacteroides infection" RELATED [MESH:D001442]
synonym: "infection caused by Bacteroides" RELATED []
synonym: "infection due to Bacteroides" EXACT []
synonym: "infection, Bacteroides" RELATED [MESH:D001442]
synonym: "infections, Bacteroides" RELATED [MESH:D001442]
xref: DOID:4641 {source="EFO:1000832", source="MONDO:obsolete"}
xref: EFO:1000832 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:2164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001442 {source="MONDO:equivalentTo", source="EFO:1000832"}
xref: SCTID:2918000 {source="MONDO:equivalentTo"}
xref: UMLS:C0004669 {source="MEDGEN:2164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1000832", source="MESH:D001442/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0006705 {source="MESH:D001442", source="MONDO:Entailed", source="MONDO:Redundant"} ! Bacteroidaceae infectious disease
is_a: MONDO:0024389 ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:816 ! Bacteroides

[Term]
id: MONDO:0006672
name: balanitis
def: "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge." [NCIT:C26705]
subset: otar {source="MONDO:OTAR"}
synonym: "balanitis" EXACT [NCIT:C26705]
synonym: "glans penis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of glans penis" EXACT []
xref: DOID:13033 {source="MONDO:equivalentTo", source="EFO:1000833"}
xref: EFO:1000833 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N48.1 {source="MONDO:equivalentTo", source="DOID:13033"}
xref: ICD10WHO:N48.1 {source="MONDO:equivalentTo"}
xref: MedDRA:10004073 {source="EFO:1000833"}
xref: MEDGEN:14020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001446 {source="MONDO:equivalentTo", source="DOID:13033", source="EFO:1000833"}
xref: NCIT:C26705 {source="MONDO:equivalentTo", source="DOID:13033", source="EFO:1000833"}
xref: SCTID:155928003 {source="DOID:13033"}
xref: SCTID:198020004 {source="DOID:13033"}
xref: SCTID:198021000 {source="DOID:13033"}
xref: SCTID:266572002 {source="DOID:13033"}
xref: SCTID:371163003 {source="DOID:13033"}
xref: SCTID:44882003 {source="MONDO:equivalentTo", source="DOID:13033", source="EFO:1000833"}
xref: UMLS:C0004690 {source="MEDGEN:14020", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002036 {source="DOID:13033", source="MESH:D001446", source="MONDO:Redundant", source="NCIT:C26705/inferred"} ! penile disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001299 ! glans penis

[Term]
id: MONDO:0006673
name: pituitary gland basophil adenoma
def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basophil adenoma" RELATED [DOID:4542]
synonym: "basophilic adenoma" EXACT [NCIT:C2856]
synonym: "basophilic pituitary gland adenoma" EXACT [NCIT:C2856]
synonym: "mucoid cell adenoma" EXACT [NCIT:C2856]
synonym: "pituitary basophilic adenoma" EXACT [NCIT:C2856]
synonym: "pituitary gland basophilic adenoma" EXACT [DOID:4542, NCIT:C2856]
xref: DOID:4542 {source="MONDO:equivalentTo", source="EFO:1000834"}
xref: EFO:1000834 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8300/0 {source="NCIT:C2856"}
xref: MEDGEN:1746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000237 {source="DOID:4542", source="MONDO:equivalentTo", source="EFO:1000834"}
xref: NCIT:C2856 {source="DOID:4542", source="MONDO:equivalentTo", source="EFO:1000834"}
xref: SCTID:9436005 {source="DOID:4542", source="EFO:1000834"}
xref: UMLS:C0001431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1746"}
is_a: MONDO:0004805 {source="DOID:4542"} ! leukocyte disorder
is_a: MONDO:0006373 {source="DOID:4542", source="EFO:1000834"} ! pituitary gland adenoma

[Term]
id: MONDO:0006674
name: obsolete benign fibrous mesothelioma
def: "OBSOLETE. A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." [EFO:1000835]
comment: From NCIT: Fibrous mesothelioma (benign) is a terribly antiquated term. Even decades ago when it was reported, it was not described as being associated with neoplastic mesothelial cell proliferation.
synonym: "fibrous mesothelioma, benign" EXACT [DOID:2653]
synonym: "fibrous mesothelioma, benign (morphologic abnormality)" EXACT [DOID:2653, EFO:1000835]
synonym: "localized benign fibrous mesothelioma" EXACT [DOID:2653, EFO:1000835, NCIT:C4281]
synonym: "solitary fibrous tumor, pleural" RELATED [EFO:1000835]
xref: DOID:2653 {source="MONDO:obsoleteEquivalent", source="EFO:1000835"}
xref: MESH:D054363 {source="DOID:2653", source="MONDO:obsoleteEquivalent", source="EFO:1000835"}
xref: NCIT:C4457 {source="MONDO:relatedTo", source="DOID:2653"}
xref: SCTID:15702005 {source="DOID:2653", source="EFO:1000835"}
xref: SCTID:254646001 {source="MONDO:relatedTo", source="DOID:2653"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3701" xsd:anyURI
is_obsolete: true
consider: MONDO:0021041

[Term]
id: MONDO:0006675
name: obsolete benign monoclonal gammopathy
is_obsolete: true
replaced_by: MONDO:0004225

[Term]
id: MONDO:0006676
name: beriberi
def: "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." [https://rarediseases.info.nih.gov/diseases/9948/beriberi]
comment: Editor note: check if beriberi should be made a subclass of TD
subset: otar {source="MONDO:OTAR"}
synonym: "Beri Beri" EXACT [NCIT:C34418]
synonym: "thiamine deficiency" EXACT [GARD:0009948]
synonym: "vitamin B1 deficiency" EXACT [GARD:0009948]
xref: DOID:0070313 {source="MONDO:equivalentTo"}
xref: DOID:13725 {source="EFO:1000837", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: EFO:1000837 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E51.1 {source="EFO:1000837", source="DOID:13725"}
xref: ICD10CM:E51.11 {source="DOID:13725"}
xref: ICD9:265.0 {source="DOID:13725", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10004482 {source="EFO:1000837"}
xref: MEDGEN:543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001602 {source="EFO:1000837", source="DOID:13725", source="MONDO:equivalentTo"}
xref: NCIT:C34418 {source="DOID:13725", source="MONDO:equivalentTo"}
xref: SCTID:154725000 {source="DOID:13725"}
xref: SCTID:190625009 {source="DOID:13725"}
xref: SCTID:267491008 {source="DOID:13725"}
xref: SCTID:35843007 {source="DOID:13725"}
xref: SCTID:36656008 {source="EFO:1000837", source="DOID:13725", source="MONDO:equivalentTo"}
xref: UMLS:C0005122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543"}
is_a: MONDO:0006873 {source="DOID:13725", source="EFO:1000837", source="MESH:D001602/inferred"} ! nutritional deficiency disease
is_a: MONDO:0042976 {source="MESH:D001602/inferred", source="NCIT:C34418"} ! vitamin B deficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9948/beriberi" xsd:anyURI {source="GARD:0009948"}

[Term]
id: MONDO:0006677
name: bile reflux
def: "Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas." [MESH:D001655]
subset: otar {source="MONDO:OTAR"}
xref: DOID:12237 {source="EFO:1000838", source="MONDO:equivalentTo"}
xref: EFO:1000838 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:2243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001655 {source="EFO:1000838", source="DOID:12237", source="MONDO:equivalentTo"}
xref: UMLS:C0005403 {source="MEDGEN:2243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004868 {source="DOID:12237", source="MESH:D001655"} ! biliary tract disorder

[Term]
id: MONDO:0006678
name: bladder calculus
def: "A concretion in the urinary bladder." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11355 {source="EFO:1000839", source="MONDO:equivalentTo"}
xref: EFO:1000839 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N21.0 {source="DOID:11355"}
xref: ICD9:594.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10005001 {source="EFO:1000839"}
xref: MEDGEN:14149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001744 {source="EFO:1000839", source="MONDO:equivalentTo", source="DOID:11355"}
xref: NCIT:C26707 {source="EFO:1000839", source="MONDO:otherHierarchy"}
xref: SCTID:155879005 {source="DOID:11355"}
xref: SCTID:197830007 {source="DOID:11355"}
xref: SCTID:70650003 {source="EFO:1000839", source="MONDO:equivalentTo", source="DOID:11355"}
xref: UMLS:C0005683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14149"}
is_a: MONDO:0004828 {source="DOID:11355"} ! lower urinary tract calculus
is_a: MONDO:0006026 {source="EFO:1000839", source="MESH:D001744"} ! urinary bladder disorder

[Term]
id: MONDO:0006679
name: bladder neck obstruction
def: "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "obstruction of bladder neck or vesicourethral orifice" EXACT [DOID:13948]
xref: DOID:13948 {source="MONDO:equivalentTo", source="EFO:1000840"}
xref: EFO:1000840 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N32.0 {source="MONDO:equivalentTo", source="DOID:13948"}
xref: ICD9:596.0 {source="MONDO:equivalentTo", source="DOID:13948", source="MONDO:i2s"}
xref: MedDRA:10005053 {source="EFO:1000840"}
xref: MEDGEN:14151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001748 {source="MONDO:equivalentTo", source="DOID:13948", source="EFO:1000840"}
xref: NCIT:C79541 {source="MONDO:otherHierarchy", source="DOID:13948"}
xref: SCTID:155887006 {source="DOID:13948"}
xref: SCTID:197859007 {source="DOID:13948"}
xref: SCTID:25220001 {source="DOID:13948"}
xref: SCTID:399072004 {source="MONDO:equivalentTo", source="DOID:13948", source="EFO:1000840"}
xref: SCTID:416991005 {source="DOID:13948"}
xref: UMLS:C0005694 {source="MEDGEN:14151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006026 {source="DOID:13948", source="EFO:1000840", source="MESH:D001748"} ! urinary bladder disorder

[Term]
id: MONDO:0006680
name: blue nevus
def: "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative." [NCIT:C3803]
subset: otar {source="MONDO:OTAR"}
synonym: "benign mesenchymal melanoma" RELATED [GARD:0008452]
synonym: "blue neuronevus" RELATED [GARD:0008452]
synonym: "blue nevus" EXACT [GARD:0008452]
synonym: "blue Nevus of skin" EXACT [NCIT:C3803]
synonym: "blue Nevus of the skin" EXACT [NCIT:C3803]
synonym: "blue skin Nevus" EXACT [NCIT:C3803]
synonym: "Jadassohn-TiC(che nevus" RELATED [GARD:0008452]
synonym: "Jadassohn-TiC(che syndrome" RELATED [GARD:0008452]
synonym: "Jadassohn-Tièche nevus" RELATED [GARD:0008452]
synonym: "Jadassohn-Tièche syndrome" RELATED [GARD:0008452]
synonym: "Tièche-Jadassohn nevus" RELATED [GARD:0008452]
xref: DOID:2086 {source="EFO:1000841", source="MONDO:obsolete"}
xref: EFO:1000841 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8780/0 {source="NCIT:C3803"}
xref: MedDRA:10062788 {source="EFO:1000841"}
xref: MEDGEN:104930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018329 {source="MONDO:equivalentTo", source="EFO:1000841"}
xref: NCIT:C3803 {source="MONDO:equivalentTo", source="EFO:1000841", source="MONDO:exact-label-match"}
xref: SCTID:254806009 {source="MONDO:equivalentTo"}
xref: SCTID:63166000 {source="EFO:1000841"}
xref: UMLS:C0206736 {source="MONDO:equivalentTo", source="MEDGEN:104930", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="EFO:1000841", source="MESH:D018329/inferred", source="NCIT:C3803/inferred"} ! melanocytic nevus

[Term]
id: MONDO:0006681
name: Borrelia infectious disease
def: "Infections with bacteria of the genus borrelia." [MESH:D001899]
subset: otar {source="MONDO:OTAR"}
synonym: "Borrelia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Borrelia disease or disorder" EXACT []
xref: DOID:11730 {source="MONDO:obsolete", source="EFO:1000842"}
xref: EFO:1000842 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10061591 {source="EFO:1000842"}
xref: MEDGEN:2325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001899 {source="MONDO:equivalentTo", source="EFO:1000842"}
xref: UMLS:C0006035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2325"}
is_a: MONDO:0005113 {source="EFO:1000842", source="MESH:D001899/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:138 ! Borrelia

[Term]
id: MONDO:0006682
name: brachial plexus neuritis
def: "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute brachial neuritis" RELATED [GARD:0004228]
synonym: "acute brachial neuritis syndrome" RELATED [GARD:0004228]
synonym: "acute brachial radiculitis syndrome" RELATED [GARD:0004228]
synonym: "acute shoulder neuritis" RELATED [GARD:0004228]
synonym: "brachial nerve plexus neuritis" EXACT [MONDO:patterns/location]
synonym: "brachial neuritis" EXACT [DOID:3689]
synonym: "idiopathic neuralgic amyotrophy" RELATED [GARD:0004228]
synonym: "neuritis of brachial nerve plexus" EXACT [MONDO:design_pattern]
synonym: "parsonage Turner syndrome" RELATED [GARD:0004228]
synonym: "parsonage-Aldren-Turner syndrome" EXACT [DOID:3689]
xref: DOID:3689 {source="MONDO:equivalentTo", source="EFO:1000843"}
xref: EFO:1000843 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G54.5 {source="DOID:3689"}
xref: ICD9:723.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10073002 {source="EFO:1000843"}
xref: MEDGEN:113170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020968 {source="DOID:3689", source="MONDO:equivalentTo", source="EFO:1000843"}
xref: NCIT:C84600 {source="DOID:3689", source="MONDO:equivalentTo", source="EFO:1000843"}
xref: SCTID:156642003 {source="DOID:3689"}
xref: SCTID:26609002 {source="DOID:3689", source="MONDO:directSiblingOf"}
xref: SCTID:268079007 {source="DOID:3689"}
xref: SCTID:3548001 {source="DOID:3689"}
xref: SCTID:72893007 {source="DOID:3689", source="MONDO:equivalentTo"}
xref: UMLS:C0221759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113170"}
is_a: MONDO:0002122 {source="DOID:3689", source="MESH:D020968", source="MONDO:Redundant"} ! neuritis
is_a: MONDO:0006683 {source="DOID:3689", source="EFO:1000843", source="MESH:D020968", source="MONDO:Redundant"} ! brachial plexus neuropathy
intersection_of: MONDO:0002122 ! neuritis
intersection_of: disease_has_location UBERON:0001814 ! brachial nerve plexus

[Term]
id: MONDO:0006683
name: brachial plexus neuropathy
def: "A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachial nerve plexus peripheral neuropathy" EXACT [MONDO:patterns/location]
synonym: "brachial plexopathy" EXACT [DOID:3690, NCIT:C27194]
synonym: "brachial plexus disorder" EXACT [DOID:3690]
synonym: "peripheral neuropathy of brachial nerve plexus" EXACT [MONDO:design_pattern]
xref: DOID:3690 {source="MONDO:equivalentTo", source="EFO:1000844"}
xref: EFO:1000844 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G54.0 {source="DOID:3690"}
xref: ICD9:353.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:148580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020516 {source="MONDO:equivalentTo", source="DOID:3690", source="EFO:1000844"}
xref: NCIT:C27194 {source="MONDO:equivalentTo", source="DOID:3690"}
xref: SCTID:3548001 {source="MONDO:equivalentTo", source="DOID:3690"}
xref: UMLS:C0700251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148580"}
is_a: MONDO:0005244 {source="DOID:3690", source="MONDO:Redundant"} ! peripheral neuropathy
is_a: MONDO:0024432 {source="MONDO:Redundant", source="NCIT:C27194"} ! nerve plexus disorder
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_has_location UBERON:0001814 ! brachial nerve plexus

[Term]
id: MONDO:0006684
name: brain edema
def: "Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)" [MESH:D001929]
subset: otar {source="MONDO:OTAR"}
synonym: "intracranial swelling" EXACT [DOID:4724]
synonym: "wet brain" EXACT [DOID:4724]
xref: DOID:4724 {source="MONDO:equivalentTo", source="EFO:1000845"}
xref: EFO:1000845 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:348.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10006121 {source="EFO:1000845"}
xref: MEDGEN:2337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001929 {source="MONDO:equivalentTo", source="DOID:4724", source="EFO:1000845"}
xref: SCTID:2032001 {source="MONDO:equivalentTo", source="DOID:4724"}
xref: SCTID:85974009 {source="DOID:4724"}
xref: UMLS:C0006114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2337"}
is_a: MONDO:0005560 {source="DOID:4724", source="EFO:1000845", source="MESH:D001929"} ! brain disorder

[Term]
id: MONDO:0006685
name: brain hypoxia - ischemia
def: "A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions." [MESH:D020925]
xref: DOID:4369 {source="MONDO:obsolete", source="EFO:1000846"}
xref: MEDGEN:199862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020925 {source="MONDO:equivalentTo", source="EFO:1000846"}
xref: UMLS:C0752308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199862"}
is_a: MONDO:0005299 {source="EFO:1000846", source="MESH:68020925", source="https://github.com/monarch-initiative/mondo/issues/580"} ! brain ischemia
relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
relationship: excluded_subClassOf MONDO:0005560 {source="EFO:1000846", source="MESH:D020925/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! brain disorder

[Term]
id: MONDO:0006686
name: brain stem infarction
def: "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." [MESH:D020526]
subset: otar {source="MONDO:OTAR"}
synonym: "brain infarction of brainstem" EXACT [MONDO:design_pattern]
synonym: "brainstem brain infarction" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "brainstem infarction" EXACT [DOID:3523]
synonym: "brainstem infarction NOS" RELATED EXCLUDE [DOID:3523]
xref: DOID:3523 {source="MONDO:equivalentTo", source="EFO:1000847"}
xref: EFO:1000847 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:101068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020526 {source="MONDO:equivalentTo", source="DOID:3523", source="EFO:1000847"}
xref: SCTID:195191006 {source="DOID:3523"}
xref: SCTID:195192004 {source="DOID:3523"}
xref: SCTID:230697005 {source="DOID:3523"}
xref: SCTID:95457000 {source="MONDO:equivalentTo", source="DOID:3523"}
xref: UMLS:C0521542 {source="MEDGEN:101068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005394 {source="DOID:3523", source="EFO:1000847", source="MESH:D020526", source="MONDO:Redundant"} ! brain infarction
intersection_of: MONDO:0005394 ! brain infarction
intersection_of: disease_has_location UBERON:0002298 ! brainstem

[Term]
id: MONDO:0006687
name: burning mouth syndrome
def: "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." [NCIT:P378]
subset: gard_rare {source="GARD:5974", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:353253"}
subset: orphanet_rare {source="Orphanet:353253"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BMS" EXACT ABBREVIATION [Orphanet:353253]
synonym: "oral dysesthesia" EXACT [Orphanet:353253]
synonym: "Orodynia" EXACT [DOID:4331, Orphanet:353253]
synonym: "stomatodynia" EXACT [Orphanet:353253]
synonym: "Stomatopyrosis" EXACT [DOID:4331, Orphanet:353253]
xref: DOID:4331 {source="EFO:1000850", source="MONDO:equivalentTo"}
xref: EFO:1000850 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5974 {source="MONDO:GARD"}
xref: ICD10CM:K14.6 {source="Orphanet:353253", source="Orphanet:353253/btnt"}
xref: icd11.foundation:618998878 {source="Orphanet:353253", source="MONDO:equivalentTo"}
xref: MedDRA:10068065 {source="EFO:1000850"}
xref: MEDGEN:14254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002054 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"}
xref: NCIT:C62545 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"}
xref: Orphanet:353253 {source="MONDO:equivalentTo"}
xref: SCTID:111349000 {source="DOID:4331"}
xref: SCTID:399165002 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"}
xref: UMLS:C0006430 {source="MEDGEN:14254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C62545"} ! syndromic disease
is_a: MONDO:0006858 {source="DOID:4331", source="MESH:D002054", source="NCIT:C62545/inferred"} ! mouth disorder
relationship: excluded_subClassOf MONDO:0021146 {source="Orphanet:353253", source="https://orcid.org/0000-0001-5208-3432"} ! headache disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020011"} ! rare

[Term]
id: MONDO:0006688
name: byssinosis
def: "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week." [NCIT:P378]
subset: gard_rare {source="GARD:5976", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cotton dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "cotton mill fever" EXACT [DOID:10323]
synonym: "flax-dressers' disease" EXACT [DOID:10323]
synonym: "Monday morning fever" RELATED [GARD:0005976]
synonym: "pneumoconiosis from cotton dust" EXACT []
synonym: "stripper's asthma" EXACT [DOID:10323]
synonym: "textile worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432]
xref: DOID:10323 {source="MONDO:equivalentTo", source="EFO:1000851"}
xref: EFO:1000851 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5976 {source="MONDO:GARD"}
xref: ICD10CM:J66.0 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"}
xref: ICD9:504 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10006822 {source="EFO:1000851"}
xref: MEDGEN:2769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002095 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"}
xref: NCIT:C84605 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"}
xref: SCTID:13151001 {source="MONDO:equivalentTo"}
xref: SCTID:155589004 {source="DOID:10323"}
xref: SCTID:233689004 {source="DOID:10323"}
xref: SCTID:266400008 {source="DOID:10323"}
xref: SCTID:85761009 {source="DOID:10323", source="EFO:1000851"}
xref: UMLS:C0006542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2769"}
is_a: MONDO:0015926 {source="DOID:10323", source="EFO:1000851", source="MESH:D002095", source="MONDO:Entailed", source="MONDO:Redundant"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:02000108 ! cotton dust
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5976/byssinosis" xsd:anyURI {source="GARD:0005976"}

[Term]
id: MONDO:0006689
name: obsolete carcinoid syndrome
xref: NANDO:2200396 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2827" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100347

[Term]
id: MONDO:0006690
name: carotid artery thrombosis
def: "Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax." [MESH:D002341]
subset: otar {source="MONDO:OTAR"}
synonym: "carotid artery thrombosis" EXACT [DOID:3410]
xref: DOID:3410 {source="MONDO:equivalentTo", source="EFO:1000853"}
xref: EFO:1000853 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:433.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10007688 {source="EFO:1000853"}
xref: MEDGEN:40119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002341 {source="DOID:3410", source="MONDO:equivalentTo", source="EFO:1000853"}
xref: SCTID:195181000 {source="DOID:3410"}
xref: SCTID:86003009 {source="DOID:3410", source="MONDO:equivalentTo", source="EFO:1000853"}
xref: UMLS:C0007274 {source="MONDO:equivalentTo", source="MEDGEN:40119", source="MONDO:MEDGEN"}
is_a: MONDO:0002907 {source="DOID:3410"} ! intracranial thrombosis
is_a: MONDO:0005269 {source="DOID:3410", source="EFO:1000853", source="MESH:D002341"} ! carotid artery disorder

[Term]
id: MONDO:0006691
name: obsolete causalgia
is_obsolete: true
replaced_by: MONDO:0020572

[Term]
id: MONDO:0006692
name: central pontine myelinolysis
def: "A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "osmotic demyelination syndrome" EXACT [DOID:636]
xref: DOID:636 {source="MONDO:equivalentTo", source="EFO:1000857"}
xref: EFO:1000857 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G37.2 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"}
xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10007968 {source="EFO:1000857"}
xref: MEDGEN:64511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017590 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"}
xref: NCIT:C84623 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"}
xref: SCTID:6807001 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"}
xref: UMLS:C0206083 {source="MEDGEN:64511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002562 {source="DOID:636", source="ICD10CM:G37.2/inferred", source="MESH:D017590", source="NCIT:C84623/inferred"} ! demyelinating disease

[Term]
id: MONDO:0006693
name: cerebral arterial disease
def: "Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery." [MESH:D002539]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3527 {source="EFO:1000859", source="MONDO:equivalentTo"}
xref: EFO:1000859 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:2963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002539 {source="EFO:1000859", source="MONDO:equivalentTo", source="DOID:3527"}
xref: UMLS:C0007774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2963"}
is_a: MONDO:0006808 {source="DOID:3527", source="MESH:D002539"} ! intracranial arterial disease

[Term]
id: MONDO:0006694
name: cerebral atherosclerosis
def: "Atherosclerosis of the cerebral vasculature." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cerebral atherosclerosis" EXACT [DOID:12720, ICD9CM:437.0]
xref: DOID:12720 {source="MONDO:equivalentTo", source="EFO:1000860"}
xref: EFO:1000860 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I67.2 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"}
xref: ICD9:437.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12720"}
xref: MedDRA:1008095 {source="EFO:1000860"}
xref: MEDGEN:40189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002537 {source="MONDO:relatedTo", source="EFO:1000860", source="DOID:12720"}
xref: NCIT:C34459 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"}
xref: SCTID:195220007 {source="DOID:12720"}
xref: SCTID:266258005 {source="DOID:12720"}
xref: SCTID:55382008 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"}
xref: UMLS:C0007775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40189"}
is_a: MONDO:0005311 {source="DOID:12720", source="EFO:1000860", source="NCIT:C34459"} ! atherosclerosis

[Term]
id: MONDO:0006695
name: obsolete cervical rib syndrome
is_obsolete: true
replaced_by: MONDO:0007303

[Term]
id: MONDO:0006696
name: cervix erosion
def: "Loss or destruction of the epithelial lining of the uterine cervix." [MESH:D002579]
synonym: "erosion of cervix" EXACT [DOID:3456]
xref: DOID:3456 {source="MONDO:equivalentTo", source="EFO:1000862"}
xref: MedDRA:10015128 {source="EFO:1000862"}
xref: MEDGEN:541802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002579 {source="DOID:3456", source="MONDO:equivalentTo", source="EFO:1000862"}
xref: SCTID:156011009 {source="DOID:3456"}
xref: SCTID:266662008 {source="DOID:3456"}
xref: SCTID:61253004 {source="DOID:3456", source="MONDO:equivalentTo", source="EFO:1000862"}
xref: UMLS:C0269189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541802"}
is_a: MONDO:0002256 {source="DOID:3456", source="MESH:D002579"} ! cervix disorder

[Term]
id: MONDO:0006697
name: obsolete Chlamydophila infectious disease
is_obsolete: true
replaced_by: MONDO:0021697

[Term]
id: MONDO:0006698
name: cholecystolithiasis
def: "Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11151 {source="MONDO:equivalentTo", source="EFO:1000864"}
xref: EFO:1000864 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10049890 {source="EFO:1000864"}
xref: MEDGEN:215268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D041761 {source="MONDO:equivalentTo", source="DOID:11151", source="EFO:1000864"}
xref: NCIT:C34443 {source="MONDO:otherHierarchy", source="DOID:11151"}
xref: SCTID:197376000 {source="DOID:11151"}
xref: SCTID:235919008 {source="DOID:11151", source="MONDO:directSiblingOf"}
xref: SCTID:266541001 {source="DOID:11151"}
xref: SCTID:44900007 {source="DOID:11151"}
xref: UMLS:C0947622 {source="MEDGEN:215268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005281 {source="DOID:11151", source="EFO:1000864", source="MESH:D041761"} ! gallbladder disorder

[Term]
id: MONDO:0006699
name: choledocholithiasis
def: "Presence or formation of gallstones in the common bile duct." [MESH:D042883]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11755 {source="MONDO:equivalentTo", source="EFO:1000865"}
xref: EFO:1000865 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10049891 {source="EFO:1000865"}
xref: MEDGEN:148784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D042883 {source="DOID:11755", source="MONDO:equivalentTo", source="EFO:1000865"}
xref: SCTID:197376000 {source="DOID:11755"}
xref: SCTID:197397004 {source="DOID:11755"}
xref: SCTID:49910001 {source="DOID:11755"}
xref: UMLS:C0701818 {source="MEDGEN:148784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002886 {source="DOID:11755", source="MESH:D042883", source="MONDO:Redundant"} ! common bile duct disorder
intersection_of: MONDO:0005346 ! gallstones
intersection_of: disease_has_location UBERON:0001174 ! common bile duct
relationship: excluded_subClassOf MONDO:0005151 {source="EFO:1000865", source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
relationship: excluded_subClassOf MONDO:0005281 {source="DOID:11755", source="https://orcid.org/0000-0001-5208-3432"} ! gallbladder disorder

[Term]
id: MONDO:0006700
name: choroid cancer
def: "A malignant neoplasm involving the optic choroid." [https://orcid.org/0000-0002-6601-2165]
synonym: "cancer of optic choroid" EXACT [MONDO:patterns/cancer]
synonym: "choroid neoplasm" BROAD [DOID:12759]
synonym: "choroidal tumor" BROAD [DOID:12759, NCIT:C2949]
synonym: "choroidal tumour" BROAD OMO:0003005 []
synonym: "malignant choroid neoplasm" EXACT [NCIT:C3566]
synonym: "malignant choroid tumor" EXACT [NCIT:C3566]
synonym: "malignant choroid tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of choroid" EXACT [NCIT:C3566]
synonym: "malignant neoplasm of optic choroid" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the choroid" EXACT [NCIT:C3566]
synonym: "malignant optic choroid neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of choroid" EXACT [NCIT:C3566]
synonym: "malignant tumor of the choroid" EXACT [DOID:12759, NCIT:C3566]
synonym: "malignant tumour of choroid" EXACT OMO:0003005 []
synonym: "malignant tumour of the choroid" EXACT OMO:0003005 []
synonym: "neoplasm of choroid" RELATED EXCLUDE [DOID:12759]
synonym: "optic choroid cancer" EXACT [MONDO:patterns/location]
xref: DOID:12759 {source="MONDO:equivalentTo", source="EFO:1000866"}
xref: ICD10CM:C69.3 {source="DOID:12759"}
xref: ICD9:190.6 {source="DOID:12759", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10057405 {source="EFO:1000866"}
xref: MEDGEN:57794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002830 {source="DOID:12759", source="MONDO:equivalentTo", source="EFO:1000866"}
xref: NCIT:C2949 {source="DOID:12759"}
xref: NCIT:C3566 {source="DOID:12759", source="MONDO:equivalentTo"}
xref: SCTID:127001008 {source="DOID:12759"}
xref: SCTID:363466008 {source="DOID:12759", source="MONDO:equivalentTo"}
xref: SCTID:93755007 {source="DOID:12759"}
xref: UMLS:C0153630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57794"}
is_a: MONDO:0001898 {source="DOID:12759", source="MESH:D002830", source="MONDO:Redundant", source="NCIT:C3566/inferred"} ! optic choroid disorder
is_a: MONDO:0002659 {source="DOID:12759", source="MONDO:Redundant", source="NCIT:C3566"} ! uveal cancer
is_a: MONDO:0021258 {source="MONDO:Redundant", source="NCIT:C3566"} ! choroid neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0006701
name: chromophobe adenoma
def: "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromophobe adenoma of pituitary gland" EXACT [NCIT:C2857]
synonym: "chromophobe adenoma of the pituitary gland" EXACT [DOID:3828, NCIT:C2857]
synonym: "pituitary chromophobe adenoma" EXACT [NCIT:C2857]
synonym: "pituitary gland chromophobe adenoma" EXACT [NCIT:C2857]
xref: DOID:3828 {source="MONDO:equivalentTo", source="EFO:1000867"}
xref: EFO:1000867 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8270/0 {source="NCIT:C2857"}
xref: MEDGEN:1747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000238 {source="MONDO:equivalentTo", source="EFO:1000867", source="DOID:3828"}
xref: NCIT:C2857 {source="MONDO:equivalentTo", source="EFO:1000867", source="DOID:3828"}
xref: SCTID:37039006 {source="EFO:1000867", source="DOID:3828"}
xref: UMLS:C0001432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1747"}
is_a: MONDO:0006373 {source="DOID:3828"} ! pituitary gland adenoma

[Term]
id: MONDO:0006702
name: chronic inflammatory demyelinating polyradiculoneuropathy
def: "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse." [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/]
subset: gard_rare {source="GARD:6102", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2932"}
subset: orphanet_rare {source="Orphanet:2932"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic inflammatory demyelinating polyneuritis" RELATED [DOID:2536]
synonym: "chronic inflammatory demyelinating polyneuropathy" EXACT [NCIT:C84636]
synonym: "chronic inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:2932]
synonym: "chronic relapsing polyneuropathy" EXACT [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/]
synonym: "CIDP" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/, OMIM:139393, Orphanet:2932]
xref: DOID:2536 {source="MONDO:relatedTo"}
xref: DOID:5213 {source="MONDO:equivalentTo", source="EFO:1000868"}
xref: EFO:1000868 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6102 {source="MONDO:GARD"}
xref: ICD10CM:G61.81 {source="DOID:5213", source="MONDO:equivalentTo", source="DOID:2536"}
xref: icd11.foundation:224318510 {source="MONDO:equivalentTo", source="Orphanet:2932", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:357.81 {source="DOID:5213", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2536"}
xref: ICD9:357.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10057645 {source="EFO:1000868"}
xref: MEDGEN:98292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020277 {source="DOID:5213", source="MONDO:equivalentTo", source="DOID:2536", source="EFO:1000868"}
xref: NANDO:1200030 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100251 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200905 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84636 {source="DOID:5213", source="MONDO:equivalentTo", source="DOID:2536"}
xref: Orphanet:2932 {source="MONDO:equivalentTo"}
xref: SCTID:128209004 {source="DOID:5213", source="MONDO:equivalentTo", source="DOID:2536", source="EFO:1000868"}
xref: UMLS:C0393819 {source="MEDGEN:98292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003334 {source="DOID:5213", source="MONDO:Redundant", source="NCIT:C84636"} ! demyelinating polyneuropathy
is_a: MONDO:0005071 {source="Orphanet:2932"} ! nervous system disorder
is_a: MONDO:0005559 {source="EFO:1000868", source="MONDO:Redundant", source="MONDO:indirect"} ! neurodegenerative disease
is_a: MONDO:0006915 {source="DOID:5213", source="MESH:D020277"} ! polyradiculoneuropathy
intersection_of: MONDO:0003334 ! demyelinating polyneuropathy
intersection_of: MONDO:0021166 ! inflammatory disease
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:2536", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inflammatory and toxic neuropathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3697" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7119" xsd:anyURI

[Term]
id: MONDO:0006703
name: obsolete chronic interstitial cystitis
is_obsolete: true
replaced_by: MONDO:0018301

[Term]
id: MONDO:0006704
name: CNS demyelinating autoimmune disease
def: "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens." [MESH:D020278]
subset: otar {source="MONDO:OTAR"}
xref: DOID:641 {source="EFO:1000870", source="MONDO:obsolete"}
xref: EFO:1000870 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:199756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020278 {source="EFO:1000870", source="MONDO:equivalentTo"}
xref: UMLS:C0751873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199756"}
is_a: MONDO:0007179 {source="EFO:1000870", source="MESH:D020278/inferred"} ! autoimmune disease

[Term]
id: MONDO:0006705
name: Bacteroidaceae infectious disease
def: "Infections with bacteria of the family BACTEROIDACEAE." [MESH:D016866]
synonym: "Bacteroidaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteroidaceae disease or disorder" EXACT []
synonym: "Bacteroidaceae infection" RELATED [MESH:D016866]
synonym: "infection, Bacteroidaceae" RELATED [MESH:D016866]
synonym: "infections, Bacteroidaceae" RELATED [MESH:D016866]
xref: DOID:4106 {source="EFO:1000872", source="MONDO:obsolete"}
xref: MEDGEN:39037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016866 {source="EFO:1000872", source="MONDO:equivalentTo"}
xref: UMLS:C0085392 {source="MEDGEN:39037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1000872", source="MESH:D016866/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D016866"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:815 ! Bacteroidaceae

[Term]
id: MONDO:0006706
name: Bifidobacteriales infectious disease
def: "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." [MESH:D039941]
synonym: "Bifidobacteriales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bifidobacteriales disease or disorder" EXACT []
synonym: "Bifidobacteriales infection" RELATED [MESH:D039941]
synonym: "infection, Bifidobacteriales" RELATED [MESH:D039941]
synonym: "infections, Bifidobacteriales" RELATED [MESH:D039941]
xref: MEDGEN:209748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D039941 {source="MONDO:equivalentTo", source="EFO:1000873"}
xref: UMLS:C1136339 {source="MEDGEN:209748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1000873", source="MESH:D039941/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:85004 ! Bifidobacteriales

[Term]
id: MONDO:0006707
name: obsolete MONDO:0006707
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024388

[Term]
id: MONDO:0006708
name: Desulfovibrionaceae infectious disease
def: "Infections with bacteria of the family Desulfovibrionaceae." [MESH:D045824]
synonym: "Bilophila infection" RELATED [MESH:D045824]
synonym: "Bilophila infections" RELATED [MESH:D045824]
synonym: "commensal Bilophila infection" RELATED []
synonym: "Desulfovibrio infection" RELATED [MESH:D045824]
synonym: "Desulfovibrio infections" RELATED [MESH:D045824]
synonym: "Desulfovibrionaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Desulfovibrionaceae disease or disorder" EXACT []
synonym: "Desulfovibrionaceae infection" RELATED [MESH:D045824]
synonym: "infection, Bilophila" RELATED [MESH:D045824]
synonym: "infection, Desulfovibrio" RELATED [MESH:D045824]
synonym: "infection, Desulfovibrionaceae" RELATED [MESH:D045824]
synonym: "infection, Lawsonia" RELATED [MESH:D045824]
synonym: "infections, Bilophila" RELATED [MESH:D045824]
synonym: "infections, Desulfovibrio" RELATED [MESH:D045824]
synonym: "infections, Desulfovibrionaceae" RELATED [MESH:D045824]
synonym: "infections, Lawsonia" RELATED [MESH:D045824]
synonym: "Lawsonia infection" RELATED [MESH:D045824]
synonym: "Lawsonia infections" RELATED [MESH:D045824]
xref: DOID:3636 {source="MONDO:ExternalObsolete", source="MONDO:obsolete", source="EFO:1000875"}
xref: MESH:D045824 {source="MONDO:equivalentTo", source="EFO:1000875"}
is_a: MONDO:0005113 {source="EFO:1000875", source="MESH:D045824/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D045824"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:194924 ! Desulfovibrionaceae

[Term]
id: MONDO:0006709
name: common bile duct neoplasm
def: "Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi." [MESH:D003138]
synonym: "common bile duct neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "common bile duct tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "common bile duct tumour" EXACT OMO:0003005 []
synonym: "neoplasm of common bile duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of common bile duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of common bile duct" EXACT OMO:0003005 []
xref: DOID:4608 {source="MONDO:equivalentTo", source="EFO:1000876"}
xref: MEDGEN:3178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003138 {source="MONDO:equivalentTo", source="EFO:1000876", source="DOID:4608"}
xref: SCTID:126857009 {source="MONDO:equivalentTo", source="EFO:1000876", source="DOID:4608"}
xref: UMLS:C0009442 {source="MEDGEN:3178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002886 {source="MESH:D003138", source="MONDO:Redundant"} ! common bile duct disorder
is_a: MONDO:0005304 {source="DOID:4608", source="EFO:1000876", source="MONDO:Redundant"} ! biliary tract neoplasm
is_a: MONDO:0021385 {source="MONDO:Redundant"} ! extrahepatic bile duct neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001174 ! common bile duct

[Term]
id: MONDO:0006710
name: complex partial epilepsy
def: "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" [MESH:D017029]
subset: otar {source="MONDO:OTAR"}
synonym: "Complex partial epileptic seizure" EXACT [DOID:12382]
synonym: "epilepsy, psychomotor" EXACT [DOID:12382]
synonym: "psychomotor epilepsy" EXACT [DOID:12382]
xref: DOID:12382 {source="MONDO:equivalentTo", source="EFO:1000877"}
xref: EFO:1000877 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:345.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017029 {source="DOID:12382", source="MONDO:equivalentTo", source="EFO:1000877"}
xref: SCTID:193001003 {source="DOID:12382"}
xref: SCTID:307358009 {source="DOID:12382"}
xref: SCTID:361123003 {source="DOID:12382"}
xref: SCTID:407675009 {source="DOID:12382", source="MONDO:equivalentTo"}
xref: SCTID:84340007 {source="DOID:12382"}
xref: UMLS:C0085417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43169"}
is_a: MONDO:0005384 {source="DOID:12382", source="EFO:1000877", source="MESH:D017029"} ! focal epilepsy

[Term]
id: MONDO:0006711
name: constrictive pericarditis
def: "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "constrictive pericarditis" EXACT [DOID:11481, ICD9CM:423.2, MONDO:ambiguous]
synonym: "constrictive pericarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11481 {source="MONDO:equivalentTo", source="EFO:1000878"}
xref: EFO:1000878 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002563 {source="MONDO:otherHierarchy"}
xref: ICD9:423.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11481", source="EFO:1000878"}
xref: MedDRA:10010783 {source="EFO:1000878"}
xref: MEDGEN:18378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010494 {source="MONDO:equivalentTo", source="DOID:11481", source="EFO:1000878"}
xref: NANDO:2100064 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200239 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C78246 {source="MONDO:equivalentTo", source="DOID:11481", source="EFO:1000878"}
xref: SCTID:155340008 {source="DOID:11481"}
xref: SCTID:194969008 {source="DOID:11481"}
xref: SCTID:85598007 {source="MONDO:equivalentTo", source="DOID:11481", source="EFO:1000878"}
xref: UMLS:C0031048 {source="MONDO:equivalentTo", source="MEDGEN:18378", source="MONDO:MEDGEN"}
is_a: MONDO:0005904 {source="DOID:11481", source="EFO:1000878", source="MESH:D010494", source="NCIT:C78246"} ! pericarditis
property_value: IAO:0000589 "constrictive pericarditis (disease)" xsd:string

[Term]
id: MONDO:0006712
name: corneal edema
def: "Hazy, swollen cornea." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "corneal edema" EXACT [DOID:11030]
xref: DOID:11030 {source="MONDO:equivalentTo", source="EFO:1000879"}
xref: EFO:1000879 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H18.20 {source="DOID:11030"}
xref: ICD9:371.2 {source="DOID:11030", source="EFO:1000879"}
xref: ICD9:371.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11030"}
xref: MedDRA:10011007 {source="EFO:1000879"}
xref: MEDGEN:3242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015715 {source="MONDO:equivalentTo", source="DOID:11030", source="EFO:1000879"}
xref: NCIT:C50508 {source="MONDO:otherHierarchy", source="DOID:11030", source="EFO:1000879"}
xref: SCTID:155158008 {source="DOID:11030"}
xref: SCTID:193811006 {source="DOID:11030"}
xref: SCTID:193812004 {source="DOID:11030"}
xref: SCTID:193817005 {source="DOID:11030"}
xref: SCTID:27194006 {source="MONDO:equivalentTo", source="DOID:11030", source="EFO:1000879"}
xref: UMLS:C0010037 {source="MEDGEN:3242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="DOID:11030", source="MESH:D015715"} ! corneal disorder

[Term]
id: MONDO:0006713
name: corneal neovascularization
def: "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation." [MESH:D016510]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11382 {source="EFO:1000880", source="MONDO:equivalentTo"}
xref: EFO:1000880 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H16.4 {source="DOID:11382"}
xref: ICD10CM:H16.40 {source="DOID:11382"}
xref: ICD9:370.6 {source="EFO:1000880", source="DOID:11382"}
xref: ICD9:370.60 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11382"}
xref: MedDRA:10011031 {source="EFO:1000880"}
xref: MEDGEN:43103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016510 {source="EFO:1000880", source="MONDO:equivalentTo", source="DOID:11382"}
xref: SCTID:19161004 {source="EFO:1000880", source="MONDO:equivalentTo", source="DOID:11382"}
xref: SCTID:193789007 {source="DOID:11382"}
xref: SCTID:193791004 {source="DOID:11382"}
xref: UMLS:C0085109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43103"}
is_a: MONDO:0003085 {source="DOID:11382"} ! keratitis

[Term]
id: MONDO:0006714
name: coronary aneurysm
def: "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease." [MESH:D003323]
subset: otar {source="MONDO:OTAR"}
synonym: "aneurysm of coronary vessels" EXACT [DOID:3362, ICD9CM:414.11]
synonym: "aneurysmal lesion of coronary artery" EXACT [DOID:3362]
synonym: "arteriovenous aneurysm of coronary vessels" EXACT [DOID:3362]
synonym: "coronary artery aneurysm" RELATED [GARD:0006200]
xref: DOID:3362 {source="EFO:1000881", source="MONDO:equivalentTo"}
xref: EFO:1000881 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0030882
xref: ICD10CM:I25.4 {source="EFO:1000881"}
xref: ICD10CM:I25.41 {source="DOID:3362"}
xref: ICD9:414.11 {source="EFO:1000881", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3362"}
xref: MedDRA:10002348 {source="EFO:1000881"}
xref: MEDGEN:3622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003323 {source="EFO:1000881", source="MONDO:equivalentTo", source="DOID:3362"}
xref: SCTID:373139003 {source="DOID:3362"}
xref: SCTID:50570003 {source="EFO:1000881", source="MONDO:equivalentTo", source="DOID:3362"}
xref: UMLS:C0010051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3622"}
is_a: MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
relationship: excluded_subClassOf MONDO:0006779 {source="DOID:3362", source="https://orcid.org/0000-0001-5208-3432"} ! heart aneurysm

[Term]
id: MONDO:0006715
name: coronary stenosis
def: "Narrowing of the coronary artery lumen diameter." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "coronary artery stenosis" EXACT [DOID:4248]
xref: DOID:4248 {source="MONDO:equivalentTo", source="EFO:1000882"}
xref: MedDRA:10011089 {source="EFO:1000882"}
xref: MEDGEN:66859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D023921 {source="DOID:4248", source="MONDO:equivalentTo", source="EFO:1000882"}
xref: NANDO:2200246 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C80427 {source="DOID:4248", source="MONDO:otherHierarchy", source="EFO:1000882"}
xref: SCTID:233970002 {source="DOID:4248", source="MONDO:equivalentTo"}
xref: SCTID:251030009 {source="EFO:1000882"}
xref: UMLS:C0242231 {source="MEDGEN:66859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005010 {source="DOID:4248", source="EFO:1000882", source="EFO:1000882/inferred"} ! coronary artery disorder

[Term]
id: MONDO:0006716
name: coronary thrombosis
def: "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction." [MESH:D003328]
subset: otar {source="MONDO:OTAR"}
synonym: "coronary artery thrombosis" EXACT [DOID:11847]
synonym: "coronary vessel thrombotic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "thrombotic disease of coronary vessel" EXACT [MONDO:design_pattern]
xref: DOID:11847 {source="EFO:1000883", source="MONDO:equivalentTo"}
xref: EFO:1000883 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I21 {source="MONDO:relatedTo", source="DOID:11847"}
xref: ICD10CM:I22 {source="MONDO:relatedTo", source="DOID:11847"}
xref: MedDRA:10011108 {source="EFO:1000883"}
xref: MEDGEN:3625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003328 {source="EFO:1000883", source="MONDO:equivalentTo", source="DOID:11847"}
xref: SCTID:155304006 {source="DOID:11847"}
xref: SCTID:194796000 {source="DOID:11847"}
xref: SCTID:266288001 {source="DOID:11847"}
xref: SCTID:398274000 {source="EFO:1000883", source="MONDO:equivalentTo", source="DOID:11847"}
xref: SCTID:66514008 {source="DOID:11847"}
xref: UMLS:C0010072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3625"}
is_a: MONDO:0000831 {source="DOID:11847", source="MESH:D003328", source="MONDO:Redundant"} ! thrombotic disease
is_a: MONDO:0005010 {source="DOID:11847", source="EFO:1000883", source="EFO:1000883/inferred"} ! coronary artery disorder
intersection_of: MONDO:0000831 ! thrombotic disease
intersection_of: disease_has_location UBERON:0005985 ! coronary vessel

[Term]
id: MONDO:0006717
name: cutaneous fibrous histiocytoma
def: "A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign cutaneous fibrous histiocytoma" EXACT [DOID:4418, NCIT:C6801]
synonym: "benign fibrous cutaneous histiocytoma" EXACT [NCIT:C6801]
synonym: "benign fibrous histiocytoma of skin" EXACT [NCIT:C6801]
synonym: "benign fibrous histiocytoma of the skin" EXACT [NCIT:C6801]
synonym: "benign skin fibrous histiocytoma" EXACT [NCIT:C6801]
synonym: "cutaneous fibrous histiocytoma" EXACT [NCIT:C6801]
synonym: "dermatofibroma" EXACT [DOID:4418, NCIT:C6801]
synonym: "dermatofibroma NOS" RELATED EXCLUDE [DOID:4418]
synonym: "dermatofibroma, no ICD-O subtype" EXACT [DOID:4418]
synonym: "dermatofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:4418]
synonym: "DF" RELATED ABBREVIATION [ONCOTREE:DF]
synonym: "fibrohistiocytic neoplasm" EXACT [DOID:4418, NCIT:C8402]
synonym: "fibrohistiocytic tumor" RELATED [DOID:4418]
synonym: "fibrohistiocytic tumour" RELATED OMO:0003005 []
synonym: "fibrous histiocytoma of skin" EXACT [NCIT:C6801]
synonym: "fibrous histiocytoma of the skin" EXACT [NCIT:C6801]
synonym: "fibrous xanthoma of skin" EXACT [DOID:4418]
synonym: "pleomorphic fibroma" RELATED [DOID:4418]
synonym: "sclerosing angioma" EXACT [DOID:4418]
synonym: "sclerosing angioma (morphologic abnormality)" EXACT [DOID:4418]
synonym: "sclerosing angioma of skin" EXACT [DOID:4418]
xref: DOID:4418 {source="MONDO:equivalentTo", source="EFO:1000885"}
xref: EFO:1000885 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8832/0 {source="NCIT:C6801"}
xref: MEDGEN:1930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018219 {source="EFO:1000885", source="DOID:4418"}
xref: NCIT:C6801 {source="MONDO:equivalentTo", source="EFO:1000885", source="DOID:4418"}
xref: NCIT:C8402 {source="DOID:4418"}
xref: ONCOTREE:DF {source="MONDO:equivalentTo"}
xref: SCTID:134302009 {source="DOID:4418"}
xref: SCTID:189051001 {source="DOID:4418"}
xref: SCTID:254749001 {source="DOID:4418"}
xref: SCTID:254750001 {source="DOID:4418"}
xref: SCTID:254753004 {source="DOID:4418"}
xref: SCTID:302843004 {source="DOID:4418"}
xref: SCTID:403997008 {source="DOID:4418"}
xref: SCTID:403999006 {source="DOID:4418"}
xref: SCTID:427186000 {source="DOID:4418"}
xref: SCTID:448015002 {source="MONDO:equivalentTo", source="DOID:4418"}
xref: SCTID:72079004 {source="DOID:4418"}
xref: UMLS:C0002991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1930"}
is_a: MONDO:0002300 {source="DOID:4418", source="MONDO:Redundant", source="NCIT:C6801/inferred"} ! dermis tumor
is_a: MONDO:0002989 {source="NCIT:C6801"} ! benign fibrous histiocytoma
is_a: MONDO:0005509 {source="EFO:1000885", source="MONDO:Redundant", source="NCIT:C6801/inferred"} ! histiocytoma

[Term]
id: MONDO:0006718
name: cutaneous syphilis
def: "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" [MESH:D013591]
subset: otar {source="MONDO:OTAR"}
synonym: "Treponema pallidum caused skin disease caused by bacterial infection" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema pallidum skin disease caused by bacterial infection" EXACT []
xref: DOID:5000 {source="EFO:1000887", source="MONDO:obsolete"}
xref: EFO:1000887 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A50.06 {source="EFO:1000887"}
xref: MEDGEN:52623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013591 {source="MONDO:equivalentTo", source="EFO:1000887"}
xref: UMLS:C0039132 {source="MEDGEN:52623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005976 {source="EFO:1000887", source="MESH:D013591", source="MONDO:Redundant"} ! syphilis
is_a: MONDO:0024295 {source="MESH:D013591", source="MONDO:Redundant"} ! skin disease caused by bacterial infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:160 ! Treponema pallidum
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0006719
name: obsolete cystic lymphangioma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/395" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009761

[Term]
id: MONDO:0006720
name: cystic, mucinous, and serous neoplasm
def: "Neoplasms containing cyst-like formations or producing mucin or serum." [MESH:D018297]
subset: otar {source="MONDO:OTAR"}
xref: DOID:164 {source="MONDO:obsolete", source="EFO:1000889"}
xref: EFO:1000889 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:61678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018297 {source="MONDO:equivalentTo", source="EFO:1000889"}
xref: SCTID:115217007 {source="EFO:1000889"}
xref: UMLS:C0206767 {source="MEDGEN:61678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1000889", source="MESH:D018297/inferred"} ! neoplasm
is_a: MONDO:0005626 {source="MESH:D018297"} ! epithelial neoplasm
relationship: has_characteristic PATO:0001673 ! cystic

[Term]
id: MONDO:0006721
name: de Quervain disease
def: "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis." [MESH:D053684]
subset: otar {source="MONDO:OTAR"}
synonym: "radial styloid tenosynovitis" EXACT [DOID:14107, ICD9CM:727.04]
synonym: "tenosynovitis, de Quervain's" EXACT [DOID:14107]
xref: DOID:14107 {source="EFO:1000891", source="MONDO:equivalentTo"}
xref: EFO:1000891 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M65.4 {source="DOID:14107"}
xref: ICD9:727.04 {source="DOID:14107", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053684 {source="DOID:14107", source="EFO:1000891", source="MONDO:equivalentTo"}
xref: SCTID:123249005 {source="DOID:14107"}
xref: SCTID:154666006 {source="DOID:14107"}
xref: SCTID:156670001 {source="DOID:14107"}
xref: SCTID:190296009 {source="DOID:14107"}
xref: SCTID:202905002 {source="DOID:14107"}
xref: SCTID:21794005 {source="DOID:14107", source="MONDO:equivalentTo"}
xref: SCTID:268094006 {source="DOID:14107"}
xref: UMLS:C0149870 {source="MEDGEN:101771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:14107"} ! arthropathy

[Term]
id: MONDO:0006722
name: dental fluorosis
def: "A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fluorosis" EXACT [NCIT:C85059]
synonym: "intrinsic enamel discolouration of fluorosis" EXACT [DOID:13711]
synonym: "mottled teeth" EXACT [DOID:13711, ICD9CM:520.3]
synonym: "mottling of enamel" EXACT [DOID:13711]
xref: DOID:13711 {source="EFO:1000892", source="MONDO:equivalentTo"}
xref: EFO:1000892 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K00.3 {source="DOID:13711", source="MONDO:equivalentTo"}
xref: ICD9:520.3 {source="DOID:13711"}
xref: MedDRA:10016819 {source="EFO:1000892"}
xref: MEDGEN:44506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009050 {source="DOID:13711", source="EFO:1000892", source="MONDO:equivalentTo"}
xref: NCIT:C85059 {source="DOID:13711", source="EFO:1000892", source="MONDO:equivalentTo"}
xref: SCTID:120541000119103 {source="DOID:13711"}
xref: SCTID:30265004 {source="DOID:13711", source="EFO:1000892", source="MONDO:equivalentTo"}
xref: UMLS:C0026618 {source="MEDGEN:44506", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006999 {source="DOID:13711", source="EFO:1000892", source="MESH:D009050", source="NCIT:C85059/inferred"} ! tooth disorder

[Term]
id: MONDO:0006723
name: denture stomatitis
def: "Inflammation of the mouth due to denture irritation." [MESH:D013282]
subset: otar {source="MONDO:OTAR"}
synonym: "denture sore mouth" EXACT [DOID:11875]
xref: DOID:11875 {source="MONDO:equivalentTo", source="EFO:1000893"}
xref: EFO:1000893 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K12.1 {source="DOID:11875"}
xref: ICD9:528.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013282 {source="DOID:11875", source="MONDO:equivalentTo", source="EFO:1000893"}
xref: SCTID:196576008 {source="DOID:11875"}
xref: SCTID:69254008 {source="DOID:11875", source="MONDO:equivalentTo", source="EFO:1000893"}
xref: UMLS:C0038364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21333"}
is_a: MONDO:0004842 {source="DOID:11875", source="MESH:D013282"} ! stomatitis

[Term]
id: MONDO:0006724
name: obsolete desmoplastic small round cell tumor
is_obsolete: true
replaced_by: MONDO:0019373

[Term]
id: MONDO:0006725
name: obsolete diabetic angiopathy
is_obsolete: true
replaced_by: MONDO:0000960

[Term]
id: MONDO:0006726
name: diaphragmatic eventration
def: "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diaphragmatic eventration" EXACT [MONDO:ambiguous]
synonym: "diaphragmatic eventration (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10480 {source="MONDO:equivalentTo", source="EFO:1000898"}
xref: EFO:1000898 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0009110 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q79.1 {source="DOID:10480"}
xref: MEDGEN:8359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003965 {source="MONDO:equivalentTo", source="DOID:10480", source="EFO:1000898"}
xref: NCIT:C98912 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:10480", source="EFO:1000898"}
xref: SCTID:157006001 {source="DOID:10480"}
xref: SCTID:268351009 {source="DOID:10480"}
xref: SCTID:34168003 {source="MONDO:equivalentTo", source="DOID:10480", source="EFO:1000898"}
xref: UMLS:C0011981 {source="MEDGEN:8359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005728 {source="DOID:10480"} ! diaphragm disorder
property_value: IAO:0000589 "diaphragmatic eventration (disease)" xsd:string

[Term]
id: MONDO:0006727
name: diastolic heart failure
def: "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling." [MESH:D054144]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9775 {source="MONDO:equivalentTo", source="EFO:1000899"}
xref: EFO:1000899 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I50.3 {source="EFO:1000899"}
xref: ICD10CM:I50.30 {source="DOID:9775"}
xref: ICD9:428.3 {source="EFO:1000899", source="DOID:9775"}
xref: ICD9:428.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9775"}
xref: MedDRA:10069211 {source="EFO:1000899"}
xref: MEDGEN:210051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054144 {source="MONDO:equivalentTo", source="EFO:1000899", source="DOID:9775"}
xref: SCTID:418304008 {source="MONDO:equivalentTo", source="EFO:1000899", source="DOID:9775"}
xref: UMLS:C1135196 {source="MEDGEN:210051", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005009 {source="DOID:9775", source="EFO:1000899"} ! congestive heart failure

[Term]
id: MONDO:0006728
name: obsolete discitis
def: "OBSOLETE. Inflammation of an intervertebral disk or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." [MESH:D015299]
comment: This is a phenotype and not a disease.
synonym: "inflammation of intervertebral disk" EXACT []
synonym: "intervertebral disk inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10986 {source="MONDO:obsoleteEquivalent", source="EFO:1000900"}
xref: ICD10CM:M46.4 {source="DOID:10986"}
xref: ICD9:722.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D015299 {source="DOID:10986", source="MONDO:obsoleteEquivalent", source="EFO:1000900"}
xref: SCTID:2304001 {source="DOID:10986", source="MONDO:obsoleteEquivalent", source="EFO:1000900"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3852" xsd:anyURI
is_obsolete: true
consider: MONDO:800000

[Term]
id: MONDO:0006729
name: discrete subaortic stenosis
def: "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta." [MESH:D021922]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:5804 {source="MONDO:equivalentTo", source="EFO:1000901"}
xref: MEDGEN:3867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D021922 {source="MONDO:equivalentTo", source="DOID:5804", source="EFO:1000901"}
xref: UMLS:C0012628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3867"}
is_a: MONDO:0006987 {source="DOID:5804", source="EFO:1000901", source="MESH:D021922"} ! subvalvular aortic stenosis

[Term]
id: MONDO:0006730
name: drug psychosis
def: "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." [MESH:D011605]
synonym: "drug-induced psychosis" EXACT [DOID:1742]
synonym: "drug-induced psychotic disorder" EXACT [DOID:1742, ICD9CM:292.1]
xref: DOID:1742 {source="MONDO:equivalentTo", source="EFO:1000902"}
xref: ICD9:292.1 {source="DOID:1742"}
xref: MedDRA:10045855 {source="EFO:1000902"}
xref: MEDGEN:46195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011605 {source="DOID:1742", source="MONDO:equivalentTo", source="EFO:1000902"}
xref: SCTID:154855001 {source="DOID:1742"}
xref: SCTID:191483003 {source="DOID:1742", source="MONDO:equivalentTo", source="EFO:1000902"}
xref: SCTID:191498001 {source="DOID:1742"}
xref: UMLS:C0033937 {source="MEDGEN:46195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001423 {source="DOID:1742", source="MONDO:Redundant"} ! drug-induced mental disorder
is_a: MONDO:0004630 {source="https://orcid.org/0000-0001-5208-3432"} ! substance-induced psychosis
intersection_of: MONDO:0005485 ! psychotic disorder
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0006731
name: drug-induced akathisia
def: "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications." [NCIT:P378]
xref: DOID:4263 {source="EFO:1000903", source="MONDO:obsolete"}
xref: ICD10CM:G25.71 {source="MONDO:equivalentTo"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10001540 {source="EFO:1000903"}
xref: MEDGEN:57937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017109 {source="EFO:1000903", source="MONDO:equivalentTo"}
xref: NCIT:C78163 {source="EFO:1000903", source="MONDO:otherHierarchy"}
xref: SCTID:230333002 {source="EFO:1000903", source="MONDO:equivalentTo"}
xref: UMLS:C0162550 {source="MEDGEN:57937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="EFO:1000903", source="ICD10CM:G25.71/inferred", source="MESH:D017109/inferred"} ! nervous system disorder
relationship: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0006732
name: drug-induced dyskinesia
def: "Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)" [MESH:D004409]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4478 {source="EFO:1000904", source="MONDO:obsolete"}
xref: EFO:1000904 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10013916 {source="EFO:1000904"}
xref: MEDGEN:3935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004409 {source="EFO:1000904", source="MONDO:equivalentTo"}
xref: SCTID:102448004 {source="EFO:1000904", source="MONDO:equivalentTo"}
xref: UMLS:C0013386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3935"}
is_a: MONDO:0005071 {source="EFO:1000904", source="MESH:D004409/inferred"} ! nervous system disorder
relationship: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0006733
name: dry eye syndrome
def: "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." [NCIT:C34553]
subset: otar {source="MONDO:OTAR"}
synonym: "dry eye" EXACT [NCIT:C34553]
synonym: "dry eye syndrome" EXACT [NCIT:C34553]
synonym: "dry eye(s)" EXACT [NCIT:C34553]
synonym: "eye(s), dry" EXACT [NCIT:C34553]
synonym: "KCS" EXACT ABBREVIATION [DOID:12895]
synonym: "keratoconjunctivitis sicca" EXACT [DOID:12895, EFO:1001001, MESH:D007638, NCIT:C34553]
synonym: "sicca, keratoconjunctivitis" EXACT [MESH:D007638]
synonym: "tear film insufficiency" EXACT [DOID:10140]
xref: DOID:10140 {source="EFO:1000906", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:12895 {source="EFO:1001001", source="MONDO:equivalentTo"}
xref: EFO:1000906 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H04.12 {source="DOID:10140"}
xref: ICD9:375.15 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10013777 {source="EFO:1000906"}
xref: MedDRA:100233350 {source="EFO:1001001"}
xref: MEDGEN:4411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007638 {source="EFO:1001001", source="MONDO:equivalentTo", source="DOID:12895"}
xref: MESH:D015352 {source="EFO:1000906", source="MONDO:equivalentTo", source="DOID:10140"}
xref: NCIT:C34553 {source="EFO:1000906", source="EFO:1001001", source="MONDO:equivalentTo", source="DOID:10140"}
xref: SCTID:155182003 {source="DOID:10140"}
xref: SCTID:156455009 {source="DOID:12895"}
xref: SCTID:193980001 {source="DOID:10140"}
xref: SCTID:201444003 {source="DOID:12895"}
xref: SCTID:268050000 {source="DOID:12895"}
xref: SCTID:302896008 {source="EFO:1001001", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:12895"}
xref: SCTID:46152009 {source="MONDO:equivalentTo", source="DOID:10140"}
xref: SCTID:78946008 {source="DOID:12895"}
xref: UMLS:C0013238 {source="MEDGEN:4411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001854 {source="DOID:10140"} ! lacrimal apparatus disorder
is_a: MONDO:0002254 {source="NCIT:C34553"} ! syndromic disease
is_a: MONDO:0004768 {source="MESH:D007638"} ! keratoconjunctivitis
relationship: disease_has_basis_in_disruption_of GO:0070075 ! tear secretion

[Term]
id: MONDO:0006734
name: benign duodenal neoplasm
alt_id: MONDO:0021504
def: "A non-metastasizing neoplasm arising from the wall of the duodenum." [NCIT:C4775]
subset: otar {source="MONDO:OTAR"}
synonym: "benign duodenal neoplasm" EXACT [NCIT:C4775]
synonym: "benign duodenal tumor" EXACT [NCIT:C4775]
synonym: "benign duodenal tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of duodenum" EXACT [NCIT:C4775]
synonym: "benign neoplasm of the duodenum" EXACT [NCIT:C4775]
synonym: "benign tumor of duodenum" EXACT [NCIT:C4775]
synonym: "benign tumor of the duodenum" EXACT [NCIT:C4775]
synonym: "benign tumour of duodenum" EXACT OMO:0003005 []
synonym: "benign tumour of the duodenum" EXACT OMO:0003005 []
synonym: "duodenal benign neoplasm" RELATED [DOID:1737]
synonym: "duodenum benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "neoplasm of duodenum" RELATED EXCLUDE [DOID:1737]
synonym: "neoplasm of the duodenum" BROAD [DOID:1737, NCIT:C2995]
xref: DOID:1737 {source="EFO:1000907", source="MONDO:equivalentTo"}
xref: EFO:1000907 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10004251 {source="EFO:1000907"}
xref: MEDGEN:96924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004379 {source="EFO:1000907", source="DOID:1737", source="MONDO:directSiblingOf"}
xref: NCIT:C2995 {source="DOID:1737"}
xref: NCIT:C4775 {source="EFO:1000907", source="MONDO:equivalentTo"}
xref: SCTID:126833009 {source="DOID:1737"}
xref: SCTID:92080005 {source="MONDO:equivalentTo"}
xref: UMLS:C0496869 {source="MEDGEN:96924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C4775"} ! tumor of duodenum
is_a: MONDO:0021501 {source="MONDO:Redundant", source="NCIT:C4775"} ! benign neoplasm of small intestine
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0006735
name: duodenogastric reflux
def: "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach." [MESH:D004383]
subset: otar {source="MONDO:OTAR"}
synonym: "duodenogastric reflux (finding)" EXACT [DOID:4071]
xref: DOID:4071 {source="MONDO:equivalentTo", source="EFO:1000909"}
xref: EFO:1000909 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10060865 {source="EFO:1000909"}
xref: MEDGEN:4420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004383 {source="MONDO:equivalentTo", source="EFO:1000909", source="DOID:4071"}
xref: SCTID:9733003 {source="EFO:1000909", source="DOID:4071"}
xref: UMLS:C0013299 {source="MEDGEN:4420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002866 {source="DOID:4071", source="MESH:D004383"} ! duodenal disorder
is_a: MONDO:0007186 {source="EFO:1000909"} ! gastroesophageal reflux disease

[Term]
id: MONDO:0006736
name: dysplasia of cervix
def: "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane." [MESH:D002578]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8586 {source="MONDO:obsolete", source="EFO:1000910"}
xref: EFO:1000910 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N87 {source="EFO:1000910"}
xref: ICD9:622.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:622.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:622.11 {source="EFO:1000910"}
xref: MedDRA:10013957 {source="EFO:1000910"}
xref: MEDGEN:2971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002578 {source="MONDO:equivalentTo", source="EFO:1000910"}
xref: SCTID:73391008 {source="MONDO:equivalentTo", source="EFO:1000910"}
xref: UMLS:C0007868 {source="MONDO:equivalentTo", source="MEDGEN:2971", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="EFO:1000910"} ! reproductive system disorder

[Term]
id: MONDO:0006737
name: dystocia
def: "Slow or difficult obstetric labor or childbirth." [MESH:D004420]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8494 {source="MONDO:obsolete", source="EFO:1000911"}
xref: EFO:1000911 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:3939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004420 {source="MONDO:equivalentTo", source="EFO:1000911"}
xref: UMLS:C0013418 {source="MEDGEN:3939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024575 {source="https://github.com/monarch-initiative/mondo/issues/990"} ! pregnancy disorder
relationship: excluded_subClassOf MONDO:0005039 {source="EFO:1000911", source="https://orcid.org/0000-0001-5208-3432"} ! reproductive system disorder

[Term]
id: MONDO:0006738
name: eccrine acrospiroma
def: "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." [MESH:D018250]
subset: otar {source="MONDO:OTAR"}
synonym: "acrospiroma, eccrine" RELATED [MESH:D018250]
synonym: "acrospiromas" RELATED [MESH:D018250]
synonym: "acrospiromas, eccrine" RELATED [MESH:D018250]
synonym: "clear cell Hidradrenoma" RELATED [MESH:D018250]
synonym: "clear-cell Hidradrenoma" RELATED [MESH:D018250]
synonym: "clear-cell Hidradrenomas" RELATED [MESH:D018250]
synonym: "eccrine acrospiroma" EXACT [DOID:5442, GARD:0005726, MESH:D018250]
synonym: "eccrine Acrospiromas" RELATED [MESH:D018250]
synonym: "eccrine hidradenoma" EXACT [DOID:5442]
synonym: "eccrine hidradenoma of skin" EXACT [DOID:5442]
synonym: "eccrine poroma" EXACT [NCIT:C27273]
synonym: "hidradenoma" RELATED [GARD:0005726, MESH:D018250]
synonym: "hidradenoma, solid-cystic" RELATED [MESH:D018250]
synonym: "Hidradenomas" RELATED [MESH:D018250]
synonym: "Hidradenomas, solid-cystic" RELATED [MESH:D018250]
synonym: "Hidradrenoma, clear-cell" RELATED [MESH:D018250]
synonym: "Hidradrenoma, nodular" RELATED [MESH:D018250]
synonym: "Hidradrenomas, clear-cell" RELATED [MESH:D018250]
synonym: "Hidradrenomas, nodular" RELATED [MESH:D018250]
synonym: "nodular Hidradrenoma" RELATED [MESH:D018250]
synonym: "nodular Hidradrenomas" RELATED [MESH:D018250]
synonym: "poroma" EXACT [DOID:5442]
synonym: "poroma (acrospiroma)" EXACT [DOID:5442, NCIT:C27273]
synonym: "poroma/acrospiroma" RELATED [ONCOTREE:PORO]
synonym: "solid cystic hidradenoma" RELATED [MESH:D018250]
synonym: "solid-cystic hidradenoma" RELATED [MESH:D018250]
synonym: "solid-cystic Hidradenomas" RELATED [MESH:D018250]
xref: DOID:5442 {source="MONDO:equivalentTo", source="EFO:1000912"}
xref: EFO:1000912 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:104915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018250 {source="DOID:5442", source="MONDO:equivalentTo", source="EFO:1000912"}
xref: NCIT:C27273 {source="MONDO:equivalentTo", source="ONCOTREE:PORO"}
xref: NCIT:C7568 {source="DOID:5442", source="MONDO:relatedTo"}
xref: ONCOTREE:PORO {source="MONDO:equivalentTo"}
xref: SCTID:253020008 {source="DOID:5442", source="MONDO:relatedTo"}
xref: SCTID:254719003 {source="DOID:5442"}
xref: SCTID:400099008 {source="DOID:5442", source="MONDO:equivalentTo"}
xref: SCTID:81143000 {source="DOID:5442"}
xref: SCTID:81393009 {source="DOID:5442"}
xref: UMLS:C0206671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104915"}
is_a: MONDO:0002531 {source="DOID:5442/inferred", source="EFO:1000912/inferred", source="NCIT:C27273/inferred", source="ONCOTREE:PORO"} ! skin neoplasm
is_a: MONDO:0021489 {source="NCIT:C27273"} ! benign neoplasm of sweat gland
relationship: excluded_subClassOf MONDO:0005506 {source="EFO:1000912", source="https://orcid.org/0000-0001-5208-3432"} ! eccrine sweat gland cancer

[Term]
id: MONDO:0006739
name: Ehrlich tumor carcinoma
def: "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." [MESH:D002286]
subset: otar {source="MONDO:OTAR"}
synonym: "Ehrlich's tumor" EXACT [DOID:5050]
synonym: "Ehrlich's tumour" EXACT OMO:0003005 []
xref: DOID:5050 {source="MONDO:equivalentTo", source="EFO:1000913"}
xref: EFO:1000913 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:40103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002286 {source="MONDO:equivalentTo", source="DOID:5050", source="EFO:1000913"}
xref: UMLS:C0007125 {source="MEDGEN:40103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004989 {source="DOID:5050", source="EFO:1000913"} ! breast carcinoma

[Term]
id: MONDO:0006740
name: empty sella syndrome
def: "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome]
subset: otar {source="MONDO:OTAR"}
synonym: "empty sella" EXACT [NCIT:C84686]
synonym: "empty sella syndrome" EXACT [DOID:3642]
synonym: "empty sella turcica" RELATED [GARD:0006331]
xref: DOID:3642 {source="EFO:1000914", source="MONDO:equivalentTo"}
xref: EFO:1000914 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10014567 {source="EFO:1000914"}
xref: MEDGEN:41766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004652 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo"}
xref: NCIT:C84686 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo"}
xref: SCTID:190489005 {source="DOID:3642"}
xref: SCTID:237722004 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo"}
xref: SCTID:393569006 {source="DOID:3642"}
xref: UMLS:C0014008 {source="MEDGEN:41766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84686"} ! syndromic disease
is_a: MONDO:0003381 {source="DOID:3642", source="MESH:D004652"} ! pituitary gland disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome" xsd:anyURI {source="GARD:0006331"}

[Term]
id: MONDO:0006741
name: encephalomalacia
def: "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2034 {source="EFO:1000915", source="MONDO:equivalentTo"}
xref: EFO:1000915 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10051818 {source="EFO:1000915"}
xref: MEDGEN:4936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004678 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo"}
xref: NCIT:C98920 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo"}
xref: SCTID:58762006 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo"}
xref: UMLS:C0014068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4936"}
is_a: MONDO:0005560 {source="DOID:2034", source="EFO:1000915", source="MESH:D004678"} ! brain disorder

[Term]
id: MONDO:0006742
name: endemic goiter
def: "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "iodine-deficiency-related endemic goiter" EXACT [DOID:13198]
synonym: "iodine-deficiency-related endemic goitre" EXACT OMO:0003005 []
synonym: "simple goiter" EXACT [DOID:13198, NCIT:C35023]
synonym: "simple goitre" EXACT OMO:0003005 []
xref: DOID:13198 {source="EFO:1000916", source="MONDO:equivalentTo"}
xref: EFO:1000916 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E01.0 {source="DOID:13198"}
xref: ICD10CM:E01.2 {source="DOID:13198"}
xref: ICD9:240.0 {source="MONDO:relatedTo", source="DOID:13198"}
xref: MedDRA:10068848 {source="EFO:1000916"}
xref: MEDGEN:5357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006043 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198"}
xref: NCIT:C35023 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198"}
xref: SCTID:190234009 {source="DOID:13198"}
xref: SCTID:190316007 {source="DOID:13198"}
xref: SCTID:190319000 {source="DOID:13198"}
xref: SCTID:191043000 {source="DOID:13198"}
xref: SCTID:267369002 {source="MONDO:relatedTo", source="DOID:13198"}
xref: SCTID:271949009 {source="DOID:13198"}
xref: SCTID:56805008 {source="EFO:1000916", source="MONDO:equivalentTo", source="DOID:13198"}
xref: UMLS:C0018022 {source="MEDGEN:5357", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005397 {source="DOID:13198", source="EFO:1000916", source="MESH:D006043", source="MONDO:Redundant", source="NCIT:C35023"} ! goiter
is_a: MONDO:0006873 {source="DOID:13198", source="MONDO:Redundant"} ! nutritional deficiency disease
intersection_of: MONDO:0005397 ! goiter
intersection_of: MONDO:0006873 ! nutritional deficiency disease

[Term]
id: MONDO:0006743
name: endocrine tuberculosis
def: "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." [MESH:D014383]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:14041 {source="EFO:1000917", source="MONDO:obsolete"}
xref: MEDGEN:52884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014383 {source="EFO:1000917", source="MONDO:equivalentTo"}
xref: UMLS:C0041310 {source="MEDGEN:52884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018076 {source="EFO:1000917", source="MESH:D014383", source="MONDO:Redundant"} ! tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0002368 ! endocrine gland

[Term]
id: MONDO:0006744
name: endolymphatic hydrops
def: "An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo." [MESH:D018159]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "labyrinthine hydrops" EXACT [DOID:9848]
xref: DOID:9848 {source="EFO:1000918", source="MONDO:equivalentTo"}
xref: EFO:1000918 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H81.0 {source="DOID:9848"}
xref: ICD9:386.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049934 {source="EFO:1000918"}
xref: MEDGEN:60183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018159 {source="EFO:1000918", source="MONDO:equivalentTo", source="DOID:9848"}
xref: SCTID:194346003 {source="DOID:9848"}
xref: SCTID:27621000119100 {source="MONDO:equivalentTo", source="DOID:9848"}
xref: SCTID:70831000119103 {source="DOID:9848"}
xref: SCTID:9794007 {source="EFO:1000918", source="DOID:9848"}
xref: UMLS:C0206586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60183"}
is_a: MONDO:0004900 {source="DOID:9848"} ! peripheral vertigo

[Term]
id: MONDO:0006745
name: endometrioid stromal sarcoma
def: "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." [NCIT:C8973]
subset: gard_rare {source="GARD:6339", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1086", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213711"}
subset: orphanet_rare {source="Orphanet:213711"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Empty Sella Syndrome" EXACT [NORD:1086]
synonym: "endometrial stromal sarcoma" EXACT [MESH:D018203, NCIT:C8973]
synonym: "endometrial stromal sarcoma, high grade" EXACT [DOID:4226]
synonym: "endometrial stromal sarcomas" EXACT [MESH:D018203]
synonym: "endometrioid stromal sarcoma" EXACT [NCIT:C8973]
synonym: "ess" EXACT [DOID:4226, NCIT:C8973, ONCOTREE:ESS]
synonym: "sarcomas, endometrial stromal" EXACT [MESH:D018203]
synonym: "stromal sarcoma of the corpus uteri" EXACT [Orphanet:213711]
synonym: "stromal sarcoma, endometrial" EXACT [MESH:D018203]
synonym: "stromal sarcoma, endometrial, malignant" EXACT [NCIT:C8973]
synonym: "stromal sarcomas, endometrial" EXACT [MESH:D018203]
synonym: "undifferentiated endometrial sarcoma" EXACT [DOID:4226, NCIT:C8972]
xref: DOID:4226 {source="EFO:1000919", source="MONDO:equivalentTo"}
xref: EFO:1000919 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6339 {source="MONDO:GARD"}
xref: ICD10CM:C54.1 {source="Orphanet:213711/ntbt", source="Orphanet:213711"}
xref: ICDO:8930/3 {source="NCIT:C8973"}
xref: MedDRA:10048397 {source="EFO:1000919"}
xref: MedDRA:10057649 {source="Orphanet:213711", source="Orphanet:213711/e"}
xref: MEDGEN:60196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018203 {source="DOID:4226", source="EFO:1000919", source="Orphanet:213711", source="MONDO:equivalentTo", source="Orphanet:213711/e"}
xref: NCIT:C8973 {source="DOID:4226", source="MONDO:equivalentTo"}
xref: NORD:1086 {source="MONDO:NORD"}
xref: ONCOTREE:ESS {source="MONDO:equivalentTo"}
xref: Orphanet:213711 {source="MONDO:equivalentTo"}
xref: SCTID:699356008 {source="DOID:4226", source="EFO:1000919", source="MONDO:equivalentTo"}
xref: SCTID:70555003 {source="DOID:4226"}
xref: UMLS:C0206630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60196"}
is_a: MONDO:0001416 {source="DOID:4226/inferred", source="MONDO:Redundant", source="NCIT:C8973"} ! female reproductive organ cancer
is_a: MONDO:0003311 {source="DOID:4226", source="MESH:D018203"} ! endometrial stromal tumor
is_a: MONDO:0005089 {source="EFO:1000919", source="MESH:D018203/inferred", source="NCIT:C8973/inferred"} ! sarcoma
relationship: excluded_subClassOf MONDO:0016253 {source="Orphanet:213711", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare cancer of corpus uteri
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma" xsd:anyURI {source="GARD:0006339"}

[Term]
id: MONDO:0006746
name: endomyocardial fibrosis
def: "A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator." [NCIT:C34585]
subset: gard_rare {source="GARD:6340", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1092"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "African endomyocardial fibrosis" EXACT [DOID:12932]
synonym: "endomyocardial sclerosis" EXACT [DOID:12932]
synonym: "obscure African cardiomyopathy" EXACT [DOID:12932]
xref: DOID:12932 {source="MONDO:equivalentTo", source="EFO:1000921"}
xref: EFO:1000921 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6340 {source="MONDO:GARD"}
xref: ICD9:425.0 {source="DOID:12932"}
xref: MedDRA:10014800 {source="EFO:1000921"}
xref: MEDGEN:107513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004719 {source="DOID:12932", source="MONDO:equivalentTo", source="EFO:1000921"}
xref: NCIT:C34585 {source="DOID:12932", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000921"}
xref: NORD:1092 {source="MONDO:NORD"}
xref: SCTID:111507009 {source="DOID:12932"}
xref: SCTID:123264005 {source="DOID:12932"}
xref: SCTID:155351008 {source="DOID:12932"}
xref: SCTID:266301006 {source="DOID:12932"}
xref: SCTID:30293000 {source="DOID:12932"}
xref: SCTID:398716006 {source="DOID:12932", source="EFO:1000921"}
xref: UMLS:C0553980 {source="MEDGEN:107513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005201 {source="DOID:12932", source="EFO:1000921"} ! restrictive cardiomyopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis" xsd:anyURI {source="GARD:0006340"}

[Term]
id: MONDO:0006747
name: enterotoxemia
def: "Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." [MESH:D004767]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3583 {source="MONDO:obsolete", source="EFO:1000922"}
xref: EFO:1000922 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D004767 {source="MONDO:equivalentTo", source="EFO:1000922"}
xref: SCTID:370514003 {source="MONDO:equivalentTo", source="EFO:1000922"}
is_a: MONDO:0005583 {source="EFO:1000922", source="MESH:D004767"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0024950 ! horse disease
is_a: MONDO:0024985 ! sheep disease
is_a: MONDO:0024990 ! swine disease
is_a: MONDO:0025003 ! goat disease
property_value: RO:0002175 NCBITaxon:9796
property_value: RO:0002175 NCBITaxon:9823
property_value: RO:0002175 NCBITaxon:9913
property_value: RO:0002175 NCBITaxon:9925
property_value: RO:0002175 NCBITaxon:9940

[Term]
id: MONDO:0006748
name: epilepsia partialis continua
def: "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" [MESH:D017036]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11349 {source="MONDO:obsolete", source="EFO:1000924"}
xref: EFO:1000924 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:345.7 {source="EFO:1000924"}
xref: ICD9:345.70 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10015034 {source="EFO:1000924"}
xref: MEDGEN:39303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017036 {source="MONDO:equivalentTo", source="EFO:1000924"}
xref: SCTID:241006 {source="MONDO:equivalentTo", source="EFO:1000924"}
xref: UMLS:C0085543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39303"}
is_a: MONDO:0005027 {source="EFO:1000924", source="MESH:D017036/inferred"} ! epilepsy

[Term]
id: MONDO:0006749
name: mixed epithelioid and spindle cell melanoma
def: "A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes." [NCIT:C66756]
synonym: "mixed epithelioid and spindle cell melanoma" EXACT [NCIT:C66756]
xref: DOID:2413 {source="EFO:1000925", source="MONDO:obsolete"}
xref: ICDO:8770/3 {source="NCIT:C66756"}
xref: MEDGEN:90784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018332 {source="EFO:1000925", source="MONDO:equivalentTo"}
xref: NCIT:C66756 {source="EFO:1000925", source="MONDO:equivalentTo"}
xref: SCTID:254811006 {source="EFO:1000925", source="MONDO:equivalentTo"}
xref: UMLS:C0334442 {source="MEDGEN:90784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="NCIT:C66756"} ! melanoma
relationship: excluded_subClassOf MONDO:0005073 {source="EFO:1000925", source="MESH:D018332/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! melanocytic nevus

[Term]
id: MONDO:0006750
name: obsolete Erdheim-Chester disease
is_obsolete: true
replaced_by: MONDO:0018153

[Term]
id: MONDO:0006751
name: Erysipelothrix infectious disease
def: "Infections with bacteria of the genus erysipelothrix." [MESH:D004889]
synonym: "Erysipelothrix caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Erysipelothrix disease or disorder" EXACT []
synonym: "Erysipelothrix infection" RELATED [MESH:D004889]
synonym: "infection, Erysipelothrix" RELATED [MESH:D004889]
synonym: "infections, Erysipelothrix" RELATED [MESH:D004889]
xref: DOID:2470 {source="EFO:1000927", source="MONDO:obsolete"}
xref: MEDGEN:41856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004889 {source="EFO:1000927", source="MONDO:equivalentTo"}
xref: SCTID:367434002 {source="MONDO:equivalentTo"}
xref: UMLS:C0014736 {source="MEDGEN:41856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1000927", source="MESH:D004889/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0021679 {source="MESH:D004889"} ! gram-positive bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1647 ! Erysipelothrix

[Term]
id: MONDO:0006752
name: Erysipelothrix rhusiopathiae infectious disease
def: "A disease caused by infection with Erysipelothrix rhusiopathiae." [MONDO:patterns/infectious_disease_by_agent]
subset: otar {source="MONDO:OTAR"}
synonym: "erysipeloid" EXACT [MONDO:0000237]
synonym: "Erysipelothrix rhusiopathiae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Erysipelothrix rhusiopathiae disease or disorder" EXACT []
xref: DOID:0050061 {source="MONDO:equivalentTo"}
xref: DOID:2471 {source="EFO:1000928", source="MONDO:obsolete"}
xref: EFO:1000928 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A26 {source="MONDO:equivalentTo"}
xref: MEDGEN:266170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004887 {source="EFO:1000928", source="MONDO:equivalentTo", source="DOID:0050061"}
xref: SCTID:400105005 {source="MONDO:equivalentTo"}
xref: UMLS:C1276801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266170"}
is_a: MONDO:0006751 {source="MESH:D004887"} ! Erysipelothrix infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1648 ! Erysipelothrix rhusiopathiae
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000314 {source="DOID:0050061", source="https://orcid.org/0000-0001-5208-3432"} ! primary bacterial infectious disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0006753
name: Escherichia coli meningitis
def: "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" [MESH:D020814]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:11578 {source="EFO:1000929", source="MONDO:obsolete"}
xref: EFO:1000929 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:320.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:320.82 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020814 {source="EFO:1000929", source="MONDO:equivalentTo"}
xref: SCTID:192655005 {source="EFO:1000929", source="MONDO:equivalentTo"}
xref: UMLS:C0338395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90920"}
is_a: MONDO:0006670 {source="EFO:1000929", source="MESH:D020814"} ! bacterial meningitis

[Term]
id: MONDO:0006754
name: esophageal diverticulosis
def: "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus." [MESH:D045723]
xref: DOID:13185 {source="MONDO:equivalentTo", source="EFO:1000930"}
xref: MEDGEN:214609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045723 {source="DOID:13185", source="MONDO:equivalentTo", source="EFO:1000930"}
xref: UMLS:C0917875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:214609"}
is_a: MONDO:0003749 {source="DOID:13185", source="MESH:D045723"} ! esophageal disorder

[Term]
id: MONDO:0006755
name: euthyroid sick syndrome
def: "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "euthyroid sick syndrome" EXACT [DOID:2856, ICD9CM:790.94]
synonym: "sick euthyroid syndrome" EXACT [NCIT:C113170]
synonym: "sick-euthyroid syndrome" EXACT [DOID:2856]
xref: DOID:2856 {source="MONDO:equivalentTo", source="EFO:1000931"}
xref: EFO:1000931 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E07.81 {source="MONDO:equivalentTo", source="DOID:2856"}
xref: ICD9:790.94 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000931", source="DOID:2856"}
xref: MedDRA:10015549 {source="EFO:1000931"}
xref: MEDGEN:41908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005067 {source="MONDO:equivalentTo", source="EFO:1000931", source="DOID:2856"}
xref: NCIT:C113170 {source="MONDO:equivalentTo", source="EFO:1000931", source="DOID:2856"}
xref: SCTID:237542005 {source="MONDO:equivalentTo", source="DOID:2856"}
xref: UMLS:C0015190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41908"}
is_a: MONDO:0002254 {source="NCIT:C113170"} ! syndromic disease
is_a: MONDO:0003240 {source="DOID:2856", source="EFO:1000931", source="ICD10CM:E07.81/inferred", source="MESH:D005067"} ! thyroid gland disorder

[Term]
id: MONDO:0006756
name: obsolete extracutaneous mastocytoma
is_obsolete: true
replaced_by: MONDO:0019025

[Term]
id: MONDO:0006757
name: extrahepatic cholestasis
def: "Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cholestasis of extrahepatic bile duct" EXACT [MONDO:design_pattern]
synonym: "extrahepatic bile duct cholestasis" EXACT [MONDO:patterns/location]
synonym: "extrahepatic biliary stasis" EXACT [DOID:13619, NCIT:C34420]
synonym: "extrahepatic cholestasis (finding)" EXACT [DOID:13619]
synonym: "extrahepatic obstructive biliary disease" EXACT [DOID:13619]
xref: DOID:13619 {source="MONDO:equivalentTo", source="EFO:1000933"}
xref: EFO:1000933 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10008637 {source="EFO:1000933"}
xref: MEDGEN:2241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001651 {source="DOID:13619", source="MONDO:equivalentTo", source="EFO:1000933"}
xref: NCIT:C34420 {source="DOID:13619", source="MONDO:otherHierarchy", source="EFO:1000933"}
xref: SCTID:20719006 {source="DOID:13619", source="EFO:1000933"}
xref: SCTID:8262006 {source="DOID:13619", source="MONDO:equivalentTo"}
xref: UMLS:C0005398 {source="MEDGEN:2241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001751 {source="DOID:13619", source="MESH:D001651", source="MONDO:Redundant"} ! cholestasis
is_a: MONDO:0006322 {source="EFO:1000933"} ! non-neoplastic bile duct disorder
intersection_of: MONDO:0001751 ! cholestasis
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0006758
name: female genital tuberculosis
def: "Mycobacterium infections of the female reproductive tract (genitalia, female)." [MESH:D014384]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13175 {source="MONDO:obsolete", source="EFO:1000935"}
xref: EFO:1000935 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10061150 {source="EFO:1000935"}
xref: MEDGEN:546958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014384 {source="MONDO:equivalentTo", source="EFO:1000935"}
xref: SCTID:74181004 {source="MONDO:equivalentTo", source="EFO:1000935"}
xref: UMLS:C0275931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:546958"}
is_a: MONDO:0005039 {source="EFO:1000935"} ! reproductive system disorder

[Term]
id: MONDO:0006759
name: femoral neuropathy
def: "Neuropathy of the femoral nerve." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "femoral nerve dysfunction" EXACT [DOID:4196]
synonym: "femoral nerve lesions" EXACT [DOID:4196]
synonym: "femoral nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "peripheral nerve lesion of femoral nerve" EXACT [MONDO:design_pattern]
xref: DOID:4196 {source="EFO:1000936", source="MONDO:equivalentTo"}
xref: ICD10CM:G57.2 {source="DOID:4196"}
xref: ICD10CM:G57.20 {source="DOID:4196"}
xref: ICD9:355.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:148421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020428 {source="EFO:1000936", source="MONDO:equivalentTo", source="DOID:4196"}
xref: NCIT:C27595 {source="EFO:1000936", source="MONDO:equivalentTo", source="DOID:4196"}
xref: SCTID:193146000 {source="DOID:4196"}
xref: SCTID:25690000 {source="EFO:1000936", source="MONDO:equivalentTo", source="DOID:4196"}
xref: UMLS:C0751931 {source="MEDGEN:148421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001397 {source="DOID:4196", source="MESH:D020428"} ! mononeuropathy
is_a: MONDO:0005244 {source="DOID:4196/inferred", source="EFO:1000936", source="MONDO:Redundant", source="NCIT:C27595"} ! peripheral neuropathy
intersection_of: MONDO:0024334 ! peripheral nerve lesion
intersection_of: disease_has_location UBERON:0001267 ! femoral nerve

[Term]
id: MONDO:0006760
name: fetal erythroblastosis
def: "A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EF - erythroblastosis foetalis" EXACT [DOID:1098]
synonym: "erythroblastosis fetalis" EXACT [DOID:1098]
synonym: "haemolytic disease due to rhesus isoimmunisation" EXACT [DOID:1098]
synonym: "HDFN" EXACT ABBREVIATION [NCIT:C101304]
synonym: "hemolytic disease of the fetus or newborn" EXACT [NCIT:C101304]
synonym: "hemolytic disease of the foetus or newborn" EXACT OMO:0003005 []
synonym: "hemolytic disease of the newborn" EXACT [NCIT:C101304]
synonym: "isoimmune hemolytic disease of the newborn" EXACT [NCIT:C101304]
synonym: "rhesus isoimmunisation of the newborn" EXACT [DOID:1098]
xref: DOID:1098 {source="EFO:1000937", source="MONDO:equivalentTo"}
xref: EFO:1000937 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:P55 {source="DOID:1098"}
xref: ICD10CM:P55.9 {source="DOID:1098"}
xref: ICD9:773 {source="DOID:1098"}
xref: ICD9:773.2 {source="DOID:1098", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004899 {source="DOID:1098", source="EFO:1000937", source="MONDO:equivalentTo"}
xref: NCIT:C101304 {source="DOID:1098", source="MONDO:equivalentTo"}
xref: SCTID:111468003 {source="DOID:1098"}
xref: SCTID:123307003 {source="DOID:1098"}
xref: SCTID:157130001 {source="DOID:1098"}
xref: SCTID:206429000 {source="DOID:1098"}
xref: SCTID:206430005 {source="DOID:1098"}
xref: SCTID:206431009 {source="DOID:1098"}
xref: SCTID:206436004 {source="DOID:1098"}
xref: SCTID:25121006 {source="DOID:1098"}
xref: SCTID:268878003 {source="DOID:1098"}
xref: SCTID:276577009 {source="DOID:1098"}
xref: SCTID:33130007 {source="DOID:1098"}
xref: SCTID:387705004 {source="DOID:1098", source="MONDO:equivalentTo"}
xref: UMLS:C0014761 {source="MEDGEN:4530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001245 {source="DOID:1098"} ! microcytic anemia
relationship: disease_has_location CL:0000765 {source="EFO:0000784"} ! erythroblast

[Term]
id: MONDO:0006761
name: fibromuscular dysplasia
def: "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "fibromuscular dysplasia" EXACT [OMIM:135580]
synonym: "fibromuscular dysplasia of arteries" EXACT [OMIM:135580]
synonym: "FMDA" EXACT ABBREVIATION [OMIM:135580]
xref: DOID:2389 {source="EFO:1000938", source="MONDO:obsolete"}
xref: EFO:1000938 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10054794 {source="EFO:1000938"}
xref: MEDGEN:4700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537929 {source="MONDO:equivalentTo"}
xref: MESH:D005352 {source="EFO:1000938", source="MONDO:equivalentTo"}
xref: NCIT:C84714 {source="EFO:1000938", source="MONDO:equivalentTo"}
xref: OMIM:135580 {source="MONDO:equivalentTo"}
xref: Orphanet:336 {source="OMIM:135580", source="MONDO:equivalentObsolete"}
xref: SCTID:31653004 {source="EFO:1000938"}
xref: UMLS:C0016052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4700"}
is_a: MONDO:0000473 {source="https://github.com/monarch-initiative/mondo/issues/1029"} ! arterial disorder
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/1029"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004995 {source="EFO:1000938", source="MESH:D005352/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! cardiovascular disorder

[Term]
id: MONDO:0006762
name: freemartinism
def: "A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism)." [MESH:D005611]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4671 {source="EFO:1000939", source="MONDO:equivalentTo"}
xref: EFO:1000939 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D005611 {source="EFO:1000939", source="MONDO:equivalentTo", source="DOID:4671"}
is_a: MONDO:0024913 {source="MESH:D005611"} ! cattle disease
is_a: MONDO:0700105 ! difference of sexual differentiation, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0006763
name: frozen shoulder
def: "A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus." [https://orcid.org/0000-0002-0736-9199, PMID:34772852]
subset: otar {source="MONDO:OTAR"}
synonym: "adhesions-capsulitis,shoulder" EXACT [DOID:14188]
synonym: "adhesive capsulitis" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "adhesive capsulitis of shoulder" EXACT [DOID:14188, ICD9CM:726.0]
xref: DOID:14188 {source="MONDO:equivalentTo", source="EFO:1000941"}
xref: EFO:1000941 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M75.0 {source="MONDO:equivalentTo", source="DOID:14188"}
xref: ICD9:726.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14188"}
xref: MedDRA:10017391 {source="EFO:1000941"}
xref: MEDGEN:90227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002062 {source="MONDO:relatedTo", source="DOID:14188", source="EFO:1000941"}
xref: SCTID:156658000 {source="DOID:14188"}
xref: SCTID:156664007 {source="DOID:14188"}
xref: SCTID:202837002 {source="DOID:14188"}
xref: SCTID:202847004 {source="DOID:14188"}
xref: SCTID:268087008 {source="DOID:14188"}
xref: SCTID:399114005 {source="MONDO:equivalentTo", source="DOID:14188", source="EFO:1000941"}
xref: SCTID:8753005 {source="DOID:14188"}
xref: UMLS:C0311223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90227"}
is_a: MONDO:0006816 ! arthropathy
relationship: excluded_subClassOf MONDO:0003939 {source="DOID:14188", source="EFO:1000941", source="https://orcid.org/0000-0001-5208-3432"} ! muscle tissue disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5366" xsd:anyURI

[Term]
id: MONDO:0006764
name: fungal meningitis
def: "Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts." [MESH:D016921]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fungi caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi infectious meningitis" EXACT []
xref: DOID:11608 {source="MONDO:equivalentTo", source="EFO:1000942"}
xref: EFO:1000942 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:321.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10017538 {source="EFO:1000942"}
xref: MEDGEN:39285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016921 {source="MONDO:equivalentTo", source="DOID:11608", source="EFO:1000942"}
xref: SCTID:24321005 {source="MONDO:equivalentTo", source="DOID:11608", source="EFO:1000942"}
xref: UMLS:C0085438 {source="MEDGEN:39285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004796 {source="DOID:11608", source="EFO:1000942", source="MESH:D016921", source="MONDO:Redundant"} ! infectious meningitis
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0006765
name: Fusobacterium infectious disease
def: "Infections with bacteria of the genus fusobacterium." [MESH:D005674]
subset: otar {source="MONDO:OTAR"}
synonym: "Fusobacterium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fusobacterium disease or disorder" EXACT []
synonym: "infection caused by Fusobacterium" RELATED []
synonym: "infection due to Fusobacterium" EXACT []
xref: DOID:3758 {source="MONDO:obsolete", source="EFO:1000943"}
xref: EFO:1000943 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:872278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005674 {source="EFO:1000943"}
xref: SCTID:712657002 {source="MONDO:equivalentTo"}
xref: UMLS:C4039413 {source="MEDGEN:872278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1000943", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0024389 ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:848 ! Fusobacterium

[Term]
id: MONDO:0006766
name: gait apraxia
def: "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." [MESH:D020235]
synonym: "Gait apraxia (finding)" EXACT [DOID:4260]
xref: DOID:4260 {source="MONDO:equivalentTo", source="EFO:1000944"}
xref: MedDRA:10070635 {source="EFO:1000944"}
xref: MEDGEN:266930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020235 {source="MONDO:equivalentTo", source="DOID:4260", source="EFO:1000944"}
xref: SCTID:30767006 {source="DOID:4260", source="EFO:1000944"}
xref: UMLS:C1510417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266930"}
is_a: MONDO:0000665 {source="DOID:4260", source="MESH:D020235"} ! apraxia

[Term]
id: MONDO:0006767
name: gastric antral vascular ectasia
def: "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." [NCIT:C84724]
subset: otar {source="MONDO:OTAR"}
synonym: "GAVE" EXACT ABBREVIATION [Wikipedia:Gastric_antral_vascular_ectasia]
synonym: "watermelon stomach" EXACT []
xref: DOID:2493 {source="MONDO:equivalentTo", source="EFO:1000945"}
xref: EFO:1000945 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10051585 {source="EFO:1000945"}
xref: MEDGEN:82753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020252 {source="MONDO:equivalentTo", source="DOID:2493", source="EFO:1000945"}
xref: NCIT:C84724 {source="MONDO:equivalentTo", source="DOID:2493", source="EFO:1000945"}
xref: SCTID:412795008 {source="DOID:2493"}
xref: SCTID:43935004 {source="MONDO:equivalentTo", source="DOID:2493"}
xref: UMLS:C0267211 {source="MEDGEN:82753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001574 {source="DOID:2493"} ! capillary disorder
is_a: MONDO:0021658 {source="https://orcid.org/0000-0002-6601-2165"} ! vascular ectasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7345" xsd:anyURI

[Term]
id: MONDO:0006768
name: obsolete gastric outlet obstruction
def: "OBSOLETE. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." [NCIT:C34966]
is_obsolete: true
replaced_by: MONDO:0001561

[Term]
id: MONDO:0006769
name: gastroparesis
def: "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "gastric atonia" EXACT [DOID:11914]
synonym: "gastroparalysis" EXACT [DOID:11914]
synonym: "gastroparesis" EXACT [MONDO:ambiguous]
synonym: "gastroparesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "gastroparesis syndrome" EXACT [DOID:11914]
xref: DOID:11914 {source="EFO:1000948", source="MONDO:equivalentTo"}
xref: EFO:1000948 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002578 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K31.84 {source="DOID:11914", source="MONDO:equivalentTo"}
xref: ICD9:536.3 {source="DOID:11914"}
xref: MedDRA:10018043 {source="EFO:1000948"}
xref: MEDGEN:101809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018589 {source="EFO:1000948", source="DOID:11914", source="MONDO:equivalentTo"}
xref: NCIT:C80512 {source="EFO:1000948", source="DOID:11914", source="MONDO:otherHierarchy"}
xref: SCTID:196753007 {source="DOID:11914", source="MONDO:equivalentTo"}
xref: SCTID:235675006 {source="EFO:1000948", source="DOID:11914"}
xref: SCTID:77164002 {source="DOID:11914"}
xref: UMLS:C0152020 {source="MEDGEN:101809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001318 {source="DOID:11914"} ! functional gastric disease
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
property_value: IAO:0000589 "gastroparesis (disease)" xsd:string

[Term]
id: MONDO:0006770
name: giant cell reparative granuloma
def: "A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure." [NCIT:C121893]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central giant cell (reparative) granuloma" EXACT [DOID:1866, ICD9CM:526.3]
synonym: "central giant cell granuloma" EXACT [DOID:1866]
synonym: "central giant cell reparative granuloma of jaw" EXACT [DOID:1866]
synonym: "GCLSB" EXACT ABBREVIATION [NCIT:C121893]
synonym: "giant cell lesion of small bones" EXACT [NCIT:C121893]
xref: DOID:1866 {source="MONDO:equivalentTo", source="EFO:1000950"}
xref: EFO:1000950 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M27.1 {source="DOID:1866"}
xref: ICD9:526.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1866"}
xref: MEDGEN:102385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006101 {source="MONDO:equivalentTo", source="EFO:1000950", source="DOID:1866"}
xref: NCIT:C121893 {source="MONDO:equivalentTo"}
xref: SCTID:15350006 {source="MONDO:equivalentTo", source="DOID:1866"}
xref: UMLS:C0162375 {source="MEDGEN:102385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005674 {source="DOID:1866", source="EFO:1000950"} ! bone giant cell tumor

[Term]
id: MONDO:0006771
name: glossitis
def: "Inflammation of the tongue." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of tongue" EXACT []
synonym: "tongue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:1456 {source="MONDO:equivalentTo", source="EFO:1000951"}
xref: EFO:1000951 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K14.0 {source="DOID:1456", source="MONDO:equivalentTo"}
xref: ICD9:529.0 {source="DOID:1456", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000951"}
xref: MedDRA:10018386 {source="EFO:1000951"}
xref: MEDGEN:6618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005928 {source="DOID:1456", source="MONDO:equivalentTo", source="EFO:1000951"}
xref: NCIT:C112199 {source="DOID:1456", source="MONDO:otherHierarchy", source="EFO:1000951"}
xref: SCTID:155666003 {source="DOID:1456"}
xref: SCTID:196583001 {source="DOID:1456"}
xref: SCTID:45534005 {source="DOID:1456", source="MONDO:equivalentTo", source="EFO:1000951"}
xref: UMLS:C0017675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6618"}
is_a: MONDO:0001165 {source="DOID:1456", source="MESH:D005928", source="MONDO:Redundant"} ! tongue disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001723 ! tongue

[Term]
id: MONDO:0006772
name: obsolete glycogen storage disease VIII
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2648" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010598

[Term]
id: MONDO:0006773
name: gonadal tissue neoplasm
def: "Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells." [MESH:D018309]
xref: DOID:194 {source="EFO:1000953", source="MONDO:obsolete"}
xref: MEDGEN:104925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018309 {source="MONDO:equivalentTo", source="EFO:1000953"}
xref: SCTID:115221000 {source="EFO:1000953"}
xref: UMLS:C0206722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104925"}
is_a: MONDO:0006054 {source="EFO:1000953"} ! reproductive system neoplasm

[Term]
id: MONDO:0006774
name: habitual spontaneous abortion
def: "Three or more consecutive spontaneous abortions." [MESH:D000026]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000954 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N96 {source="EFO:1000954"}
xref: MedDRA:10062935 {source="EFO:1000954"}
xref: MEDGEN:1259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000026 {source="MONDO:equivalentTo", source="EFO:1000954"}
xref: SCTID:102878001 {source="MONDO:equivalentTo", source="EFO:1000954"}
xref: UMLS:C0000809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1259"}
is_a: MONDO:0005039 {source="EFO:1000954", source="EFO:1000954/inferred"} ! reproductive system disorder

[Term]
id: MONDO:0006775
name: obsolete haemophilus influenzae meningitis
is_obsolete: true
replaced_by: MONDO:0000889

[Term]
id: MONDO:0006776
name: obsolete hairy cell leukemia
is_obsolete: true
replaced_by: MONDO:0018935

[Term]
id: MONDO:0006777
name: hairy tongue
def: "A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black." [NCIT:P378]
synonym: "hairy tongue" EXACT [DOID:13500, MESH:D014064, NCIT:C35075]
synonym: "hairy Tongues" RELATED [MESH:D014064]
synonym: "overgrowth of filiform papillae" EXACT [DOID:13500]
synonym: "Tongues, hairy" RELATED [MESH:D014064]
xref: DOID:13500 {source="MONDO:equivalentTo", source="EFO:1000957"}
xref: ICD9:529.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10043960 {source="EFO:1000957"}
xref: MEDGEN:21199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014064 {source="MONDO:equivalentTo", source="EFO:1000957", source="DOID:13500"}
xref: NCIT:C35075 {source="MONDO:equivalentTo", source="EFO:1000957", source="DOID:13500"}
xref: SCTID:255225007 {source="MONDO:equivalentTo", source="DOID:13500"}
xref: SCTID:81934005 {source="EFO:1000957", source="DOID:13500"}
xref: UMLS:C0040414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21199"}
is_a: MONDO:0001165 {source="DOID:13500", source="MESH:D014064"} ! tongue disorder

[Term]
id: MONDO:0006778
name: halo nevus
def: "A benign melanocytic nevus with a halo appearance." [NCIT:C7602]
subset: otar {source="MONDO:OTAR"}
synonym: "halo nevi" EXACT [MONDO:0009322, OMIM:234300]
synonym: "leukoderma acquisitum Centrifugum of Sutton" RELATED [OMIM:234300]
xref: DOID:2423 {source="EFO:1000958", source="MONDO:obsolete"}
xref: EFO:1000958 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8723/0 {source="NCIT:C7602"}
xref: MedDRA:10062794 {source="EFO:1000958"}
xref: MEDGEN:141636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055882 {source="EFO:1000958", source="MONDO:equivalentTo"}
xref: NCIT:C7602 {source="EFO:1000958", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:398028009 {source="MONDO:equivalentTo"}
xref: SCTID:78325005 {source="EFO:1000958"}
xref: UMLS:C0474824 {source="MEDGEN:141636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="EFO:1000958", source="MESH:D055882", source="NCIT:C7602/inferred"} ! melanocytic nevus
relationship: excluded_subClassOf MONDO:0003847 {source="MONDO:0009322", source="OMIM:234300", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9421/halo-nevi" xsd:anyURI {source="GARD:0009421"}

[Term]
id: MONDO:0006779
name: heart aneurysm
def: "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture." [MESH:D006322]
subset: otar {source="MONDO:OTAR"}
synonym: "cardiac aneurysm" EXACT [DOID:9768]
xref: DOID:9768 {source="EFO:1000959", source="MONDO:equivalentTo"}
xref: EFO:1000959 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I25.3 {source="EFO:1000959", source="DOID:9768", source="MONDO:equivalentTo"}
xref: ICD9:414.10 {source="EFO:1000959", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:414.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10002350 {source="EFO:1000959"}
xref: MEDGEN:42360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006322 {source="EFO:1000959", source="DOID:9768", source="MONDO:equivalentTo"}
xref: NANDO:2200234 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:155317009 {source="DOID:9768"}
xref: SCTID:194847002 {source="DOID:9768"}
xref: SCTID:65340007 {source="DOID:9768", source="MONDO:equivalentTo"}
xref: UMLS:C0018789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42360"}
is_a: MONDO:0005267 {source="DOID:9768", source="EFO:1000959", source="MESH:D006322"} ! heart disorder

[Term]
id: MONDO:0006780
name: heartwater disease
def: "A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium." [MESH:D006357]
synonym: "disease, heartwater" RELATED [MESH:D006357]
xref: DOID:14090 {source="EFO:1000960", source="MONDO:obsolete"}
xref: MESH:D006357 {source="EFO:1000960", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D006357"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0700050 {source="EFO:1000960", source="MESH:D006357/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease, non-human animal
is_a: MONDO:0700205 {source="MESH:D006357"} ! ehrlichiosis, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: disease_has_infectious_agent NCBITaxon:779 ! Ehrlichia ruminantium
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9845 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Ruminantia
relationship: transmitted_by NCBITaxon:6944 ! Ixodes

[Term]
id: MONDO:0006781
name: Helicobacter pylori infectious disease
def: "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." [MESH:D016481]
subset: otar {source="MONDO:OTAR"}
synonym: "Helicobacter infection" RELATED [MESH:D016481]
synonym: "Helicobacter pylori caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Helicobacter pylori disease or disorder" EXACT []
synonym: "Helicobacter pylori infection, susceptibility to" RELATED [MESH:D016481]
synonym: "infection, Helicobacter" RELATED [MESH:D016481]
synonym: "infections, Helicobacter" RELATED [MESH:D016481]
xref: DOID:3686 {source="EFO:1000961", source="MONDO:obsolete"}
xref: EFO:1000961 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D016481 {source="MONDO:equivalentTo", source="EFO:1000961"}
is_a: MONDO:0005113 {source="EFO:1000961", source="MESH:D016481/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D016481"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:210 ! Helicobacter pylori

[Term]
id: MONDO:0006782
name: hemometra
def: "Blood-filled uterus." [MESH:D006409]
synonym: "hematometra" EXACT [DOID:9958, ICD9CM:621.4]
xref: DOID:9958 {source="MONDO:equivalentTo", source="EFO:1000962"}
xref: ICD10CM:N85.7 {source="MONDO:equivalentTo", source="DOID:9958"}
xref: ICD9:621.4 {source="MONDO:equivalentTo", source="DOID:9958", source="MONDO:i2s"}
xref: MEDGEN:6776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006409 {source="MONDO:equivalentTo", source="DOID:9958", source="EFO:1000962"}
xref: SCTID:38280009 {source="MONDO:equivalentTo", source="DOID:9958", source="EFO:1000962"}
xref: UMLS:C0018948 {source="MEDGEN:6776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="DOID:9958", source="MESH:D006409"} ! uterine disorder

[Term]
id: MONDO:0006783
name: hemopneumothorax
def: "Collection of air and blood in the pleural cavity." [MESH:D006468]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2718 {source="MONDO:equivalentTo", source="EFO:1000963"}
xref: EFO:1000963 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J94.2 {source="DOID:2718"}
xref: ICD9:511.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10060632 {source="EFO:1000963"}
xref: MEDGEN:9208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006468 {source="MONDO:equivalentTo", source="EFO:1000963", source="DOID:2718"}
xref: SCTID:16632002 {source="MONDO:equivalentTo", source="EFO:1000963", source="DOID:2718"}
xref: UMLS:C0019077 {source="MONDO:equivalentTo", source="MEDGEN:9208", source="MONDO:MEDGEN"}
is_a: MONDO:0002076 {source="DOID:2718"} ! pneumothorax

[Term]
id: MONDO:0006784
name: hemorrhagic disease of newborn
def: "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver." [NCIT:C111857]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemorrhagic disease of newborn" EXACT [NCIT:C111857]
synonym: "vitamin K deficiency bleeding in newborn" EXACT [NCIT:C111857]
xref: DOID:11248 {source="EFO:1000964", source="MONDO:obsolete"}
xref: EFO:1000964 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:P53 {source="MONDO:equivalentTo", source="EFO:1000964"}
xref: ICD9:776.0 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:1000964"}
xref: MedDRA:10019601 {source="EFO:1000964"}
xref: MEDGEN:42406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006475 {source="MONDO:equivalentTo", source="EFO:1000964"}
xref: NCIT:C111857 {source="MONDO:equivalentTo", source="EFO:1000964"}
xref: SCTID:12546009 {source="MONDO:equivalentTo"}
xref: UMLS:C0019088 {source="MEDGEN:42406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005137 {source="EFO:1000964", source="MESH:D006475/inferred"} ! nutritional disorder
relationship: disease_disrupts GO:0007596 {source="https://orcid.org/0000-0002-6601-2165"} ! blood coagulation

[Term]
id: MONDO:0006785
name: obsolete Henoch-Schoenlein purpura
xref: NANDO:1200741 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4092" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019167

[Term]
id: MONDO:0006786
name: hepatic vein thrombosis
def: "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." [MESH:D006502]
subset: otar {source="MONDO:OTAR"}
synonym: "Budd-Chiari syndrome" RELATED [DOID:11512]
synonym: "hepatic vein thrombosis" EXACT [DOID:11512]
xref: DOID:11512 {source="MONDO:equivalentTo", source="EFO:1000966"}
xref: EFO:1000966 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I82.0 {source="DOID:11512", source="MONDO:relatedTo"}
xref: ICD9:453.0 {source="MONDO:relatedTo", source="EFO:1000966"}
xref: MedDRA:10006537 {source="EFO:1000966"}
xref: MedDRA:10019713 {source="EFO:1000966"}
xref: MEDGEN:9217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006502 {source="DOID:11512", source="MONDO:relatedTo", source="EFO:1000966"}
xref: SCTID:195436007 {source="DOID:11512"}
xref: SCTID:38739001 {source="DOID:11512", source="MONDO:equivalentTo", source="EFO:1000966"}
xref: SCTID:82385007 {source="MONDO:relatedTo", source="EFO:1000966"}
xref: UMLS:C0019154 {source="MEDGEN:9217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002405 {source="DOID:11512"} ! hepatic vascular disorder

[Term]
id: MONDO:0006787
name: hidrocystoma
def: "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." [NCIT:C3760]
subset: otar {source="MONDO:OTAR"}
synonym: "apocrine cystadenoma" NARROW [DOID:3893]
synonym: "apocrine/eccrine hidrocystoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "cystadenoma" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "eccrine cystadenoma" NARROW [DOID:3893]
synonym: "eccrine hidrocystoma of skin" EXACT [DOID:3893]
synonym: "hidrocystoma" EXACT [NCIT:C3760]
synonym: "hidrocystoma (morphologic abnormality)" EXACT [DOID:3893]
synonym: "Hydrocystoma" EXACT [NCIT:C3760]
xref: DOID:3893 {source="MONDO:equivalentTo", source="EFO:1000967"}
xref: EFO:1000967 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8404/0 {source="NCIT:C3760"}
xref: MedDRA:10059019 {source="EFO:1000967"}
xref: MEDGEN:61656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018251 {source="DOID:3893", source="MONDO:equivalentTo", source="EFO:1000967"}
xref: NCIT:C3760 {source="DOID:3893", source="MONDO:equivalentTo", source="EFO:1000967"}
xref: SCTID:254725004 {source="MONDO:equivalentTo"}
xref: SCTID:80549000 {source="DOID:3893", source="EFO:1000967"}
xref: UMLS:C0206672 {source="MEDGEN:61656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021489 {source="NCIT:C3760", source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl1/"} ! benign neoplasm of sweat gland
relationship: excluded_subClassOf MONDO:0003686 {source="DOID:3893", source="https://orcid.org/0000-0001-5208-3432"} ! apocrine sweat gland neoplasm

[Term]
id: MONDO:0006788
name: obsolete hydrophthalmos
subset: gard_rare {source="MONDO:GARD"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7282" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020366

[Term]
id: MONDO:0006789
name: hyperamylasemia
def: "Abnormally high level of amylase in the blood." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:14215 {source="EFO:1000969", source="MONDO:obsolete"}
xref: EFO:1000969 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10062777 {source="EFO:1000969"}
xref: MEDGEN:105401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034321 {source="EFO:1000969", source="MONDO:equivalentTo"}
xref: NCIT:C113755 {source="EFO:1000969", source="MONDO:otherHierarchy"}
xref: UMLS:C0476327 {source="MEDGEN:105401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="EFO:1000969"} ! hematologic disorder

[Term]
id: MONDO:0006790
name: hypercementosis
def: "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" [MESH:D006936]
subset: otar {source="MONDO:OTAR"}
synonym: "cementation hyperplasia" EXACT [DOID:12733]
xref: DOID:12733 {source="MONDO:equivalentTo", source="EFO:1000970"}
xref: EFO:1000970 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K03.4 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970"}
xref: ICD9:521.5 {source="DOID:12733", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10020596 {source="EFO:1000970"}
xref: MEDGEN:9360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006936 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970"}
xref: SCTID:78537008 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970"}
xref: UMLS:C0020441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9360"}
is_a: MONDO:0002220 {source="DOID:12733", source="ICD10CM:K03.4"} ! tooth hard tissue disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6692/hypercementosis" xsd:anyURI {source="GARD:0006692"}

[Term]
id: MONDO:0006791
name: hyperemesis gravidarum
def: "Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperemesis gravidarum" EXACT [MONDO:ambiguous]
synonym: "hyperemesis gravidarum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pernicious vomiting of pregnancy" RELATED [MESH:D006939]
synonym: "pregnancy pernicious vomiting" RELATED [MESH:D006939]
xref: DOID:9357 {source="EFO:1000971", source="MONDO:obsolete"}
xref: EFO:1000971 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0012188 {source="MONDO:otherHierarchy"}
xref: MedDRA:10020614 {source="EFO:1000971"}
xref: MEDGEN:43776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006939 {source="EFO:1000971", source="MONDO:equivalentTo"}
xref: NCIT:C87084 {source="EFO:1000971", source="MONDO:otherHierarchy"}
xref: SCTID:14094001 {source="EFO:1000971", source="MONDO:equivalentTo"}
xref: UMLS:C0020450 {source="MEDGEN:43776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024575 {source="https://github.com/monarch-initiative/mondo/issues/990"} ! pregnancy disorder
relationship: excluded_subClassOf MONDO:0005039 {source="EFO:1000971", source="https://orcid.org/0000-0001-5208-3432"} ! reproductive system disorder
property_value: IAO:0000589 "hyperemesis gravidarum (disease)" xsd:string

[Term]
id: MONDO:0006792
name: hyperglobulinemic purpura
def: "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years." [MESH:D011694]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:3325 {source="MONDO:equivalentTo", source="EFO:1000972"}
xref: MEDGEN:19585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011694 {source="MONDO:equivalentTo", source="DOID:3325", source="EFO:1000972"}
xref: SCTID:402852007 {source="MONDO:equivalentTo", source="DOID:3325", source="EFO:1000972"}
xref: UMLS:C0034151 {source="MEDGEN:19585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002610 {source="DOID:3325", source="MESH:D011694"} ! purpura
is_a: MONDO:0005093 {source="EFO:1000972"} ! skin disorder

[Term]
id: MONDO:0006793
name: hyperpituitarism
def: "Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma." [MESH:D006964]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2444 {source="MONDO:equivalentTo", source="EFO:1000973"}
xref: EFO:1000973 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:253.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10020716 {source="EFO:1000973"}
xref: MEDGEN:43783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006964 {source="DOID:2444", source="MONDO:equivalentTo", source="EFO:1000973"}
xref: SCTID:10649000 {source="DOID:2444", source="MONDO:equivalentTo", source="EFO:1000973"}
xref: SCTID:154698000 {source="DOID:2444"}
xref: SCTID:267480001 {source="DOID:2444"}
xref: UMLS:C0020506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43783"}
is_a: MONDO:0003381 {source="DOID:2444", source="MESH:D006964"} ! pituitary gland disorder
relationship: disease_has_feature HP:0010514 ! Hyperpituitarism
relationship: disease_has_location UBERON:0002196 ! adenohypophysis

[Term]
id: MONDO:0006794
name: hypersensitivity vasculitis
def: "A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer." [NCIT:C82863]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukocytoclastic vasculitis" EXACT [NCIT:C82863]
xref: DOID:9809 {source="MONDO:equivalentTo", source="EFO:1000974"}
xref: EFO:1000974 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D69.0 {source="DOID:9809"}
xref: ICD10CM:M31.0 {source="DOID:9809"}
xref: ICD9:446.2 {source="DOID:9809"}
xref: ICD9:446.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9809"}
xref: ICD9:446.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10020764 {source="EFO:1000974"}
xref: MESH:D018366 {source="DOID:9809", source="EFO:1000974"}
xref: NCIT:C35119 {source="DOID:9809"}
xref: NCIT:C82863 {source="MONDO:equivalentTo"}
xref: SCTID:195350001 {source="DOID:9809"}
xref: SCTID:195352009 {source="DOID:9809"}
xref: SCTID:60555002 {source="MONDO:equivalentTo", source="DOID:9809"}
is_a: MONDO:0000605 {source="DOID:9809/inferred", source="EFO:1000974"} ! hypersensitivity reaction disease
is_a: MONDO:0018882 {source="MONDO:Redundant", source="NCIT:C82863"} ! vasculitis
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_has_basis_in_disruption_of GO:0002524 ! hypersensitivity
relationship: excluded_subClassOf MONDO:0007004 {source="DOID:9809", source="https://orcid.org/0000-0001-5208-3432"} ! type III hypersensitivity disease

[Term]
id: MONDO:0006795
name: hypersplenism
def: "Overactive functioning of the spleen, resulting in excessive destruction of blood cells." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypersplenia" EXACT [DOID:6376]
synonym: "hypersplenism" EXACT [MONDO:ambiguous]
synonym: "hypersplenism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:6376 {source="MONDO:equivalentTo", source="EFO:1000975"}
xref: EFO:1000975 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001971 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D73.1 {source="MONDO:equivalentTo", source="DOID:6376"}
xref: ICD9:289.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000975", source="DOID:6376"}
xref: MedDRA:10020769 {source="EFO:1000975"}
xref: MEDGEN:9372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006971 {source="MONDO:equivalentTo", source="EFO:1000975", source="DOID:6376"}
xref: NANDO:2200637 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34714 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000975", source="DOID:6376"}
xref: SCTID:154839008 {source="DOID:6376"}
xref: SCTID:267570002 {source="DOID:6376"}
xref: SCTID:58381000 {source="MONDO:equivalentTo", source="EFO:1000975", source="DOID:6376"}
xref: UMLS:C0020532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9372"}
is_a: MONDO:0002332 {source="DOID:6376", source="ICD10CM:D73.1", source="MESH:D006971"} ! splenic disorder
property_value: IAO:0000589 "hypersplenism (disease)" xsd:string

[Term]
id: MONDO:0006796
name: hypertensive encephalopathy
def: "Encephalopathy resulting from hypertension." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9427 {source="MONDO:equivalentTo", source="EFO:1000976"}
xref: EFO:1000976 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I67.4 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"}
xref: ICD9:437.2 {source="DOID:9427", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000976"}
xref: MedDRA:10020803 {source="EFO:1000976"}
xref: MEDGEN:57726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020343 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"}
xref: NCIT:C3503 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"}
xref: SCTID:155408008 {source="DOID:9427"}
xref: SCTID:195225002 {source="DOID:9427"}
xref: SCTID:50490005 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"}
xref: UMLS:C0151620 {source="MEDGEN:57726", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:9427/inferred", source="MESH:D020343/inferred", source="NCIT:C3503"} ! brain disorder
is_a: MONDO:0006810 {source="DOID:9427", source="MESH:D020343"} ! intracranial hypertension
intersection_of: MONDO:0005560 ! brain disorder
intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder
relationship: excluded_subClassOf MONDO:0005156 {source="EFO:1000976", source="https://orcid.org/0000-0001-5208-3432"} ! encephalomyelitis

[Term]
id: MONDO:0006797
name: hypertensive retinopathy
def: "Retinopathy due to hypertension." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11561 {source="MONDO:equivalentTo", source="EFO:1000977"}
xref: EFO:1000977 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H35.03 {source="DOID:11561"}
xref: ICD9:362.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11561", source="EFO:1000977"}
xref: MedDRA:10020839 {source="EFO:1000977"}
xref: MEDGEN:101819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058437 {source="MONDO:equivalentTo", source="DOID:11561", source="EFO:1000977"}
xref: NCIT:C3514 {source="MONDO:equivalentTo", source="DOID:11561", source="EFO:1000977"}
xref: SCTID:155108001 {source="DOID:11561"}
xref: SCTID:193356005 {source="DOID:11561"}
xref: SCTID:193358006 {source="DOID:11561"}
xref: SCTID:421731000 {source="DOID:11561"}
xref: SCTID:422001004 {source="DOID:11561"}
xref: SCTID:6962006 {source="MONDO:equivalentTo", source="DOID:11561", source="EFO:1000977"}
xref: UMLS:C0152132 {source="MEDGEN:101819", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005283 {source="DOID:11561", source="EFO:1000977", source="MESH:D058437", source="MONDO:Redundant", source="NCIT:C3514"} ! retinal disorder
intersection_of: MONDO:0005283 ! retinal disorder
intersection_of: disease_arises_from_feature HP:0000822 ! Hypertension

[Term]
id: MONDO:0006798
name: hypervitaminosis A
def: "A symptom complex resulting from ingesting excessive amounts of vitamin A." [MESH:D006986]
subset: otar {source="MONDO:OTAR"}
synonym: "hypervitaminosis type A" EXACT [DOID:9972, EFO:1000978, MONDORULE:1]
xref: DOID:9972 {source="MONDO:equivalentTo", source="EFO:1000978"}
xref: EFO:1000978 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E67.0 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"}
xref: ICD9:278.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9972", source="EFO:1000978"}
xref: MedDRA:10020916 {source="EFO:1000978"}
xref: MEDGEN:9378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006986 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"}
xref: SCTID:64559002 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"}
xref: UMLS:C0020579 {source="MEDGEN:9378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003916 {source="DOID:9972"} ! overnutrition
relationship: disease_disrupts GO:0006776 ! vitamin A metabolic process

[Term]
id: MONDO:0006799
name: hypothalamic neoplasm
def: "A primary or metastatic neoplasm that affects the hypothalamus." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hypothalamic neoplasms" EXACT [NCIT:C3129]
synonym: "hypothalamic tumor" EXACT [NCIT:C3129]
synonym: "hypothalamic tumour" EXACT OMO:0003005 []
synonym: "hypothalamus neoplasm" EXACT []
synonym: "hypothalamus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "hypothalamus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129]
synonym: "neoplasm of the hypothalamus" EXACT [DOID:3644, NCIT:C3129]
synonym: "tumor of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129]
synonym: "tumor of the hypothalamus" EXACT [NCIT:C3129]
synonym: "tumour of hypothalamus" EXACT OMO:0003005 []
synonym: "tumour of the hypothalamus" EXACT OMO:0003005 []
xref: DOID:3644 {source="MONDO:equivalentTo", source="EFO:1000979"}
xref: EFO:1000979 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:5717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007029 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979"}
xref: NCIT:C3129 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979"}
xref: SCTID:254968009 {source="MONDO:equivalentTo", source="DOID:3644"}
xref: UMLS:C0020659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5717"}
is_a: MONDO:0002150 {source="MESH:D007029", source="MONDO:Redundant"} ! hypothalamic disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001898 ! hypothalamus
relationship: excluded_subClassOf MONDO:0003766 {source="DOID:3644", source="https://orcid.org/0000-0001-5208-3432"} ! thalamic cancer

[Term]
id: MONDO:0006800
name: ideomotor apraxia
def: "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" [MESH:D020240]
subset: otar {source="MONDO:OTAR"}
synonym: "classic apraxia" EXACT [DOID:4627]
synonym: "classic apraxia (finding) [ambiguous]" EXACT [DOID:4627]
synonym: "ideomotor dyspraxia" EXACT [DOID:4627]
synonym: "limb-kinetic apraxia" EXACT [DOID:4627]
synonym: "limb-kinetic apraxia (finding)" EXACT [DOID:4627]
synonym: "transcortical apraxia" EXACT [DOID:4627]
synonym: "transcortical apraxia (finding)" EXACT [DOID:4627]
xref: DOID:4627 {source="EFO:1000980", source="MONDO:equivalentTo"}
xref: EFO:1000980 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:315.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10021216 {source="EFO:1000980"}
xref: MEDGEN:115961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020240 {source="EFO:1000980", source="MONDO:equivalentTo", source="DOID:4627"}
xref: SCTID:229706001 {source="MONDO:equivalentTo", source="DOID:4627"}
xref: SCTID:333633007 {source="DOID:4627"}
xref: SCTID:334621009 {source="DOID:4627"}
xref: SCTID:39746003 {source="DOID:4627"}
xref: UMLS:C0234523 {source="MEDGEN:115961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000665 {source="DOID:4627", source="MESH:D020240"} ! apraxia

[Term]
id: MONDO:0006801
name: ileal neoplasm
alt_id: MONDO:0021376
def: "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ileal tumor" EXACT [DOID:10156, NCIT:C3130]
synonym: "ileal tumour" EXACT OMO:0003005 []
synonym: "ileum neoplasm" EXACT []
synonym: "ileum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ileum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "ileum tumour" EXACT OMO:0003005 []
synonym: "neoplasm of ileum" EXACT [MONDO:patterns/neoplasm, NCIT:C3130]
synonym: "neoplasm of the ileum" EXACT [NCIT:C3130]
synonym: "tumor of ileum" EXACT [MONDO:patterns/neoplasm, NCIT:C3130]
synonym: "tumor of the ileum" EXACT [NCIT:C3130]
synonym: "tumour of ileum" EXACT OMO:0003005 []
synonym: "tumour of the ileum" EXACT OMO:0003005 []
xref: DOID:10156 {source="MONDO:equivalentTo", source="EFO:1000981"}
xref: EFO:1000981 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:43825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007078 {source="MONDO:equivalentTo", source="EFO:1000981", source="DOID:10156"}
xref: NCIT:C3130 {source="MONDO:equivalentTo", source="EFO:1000981", source="DOID:10156"}
xref: SCTID:126835002 {source="MONDO:equivalentTo", source="DOID:10156"}
xref: SCTID:254576003 {source="DOID:10156"}
xref: UMLS:C0020876 {source="MEDGEN:43825", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004251 {source="DOID:10156", source="MONDO:Redundant", source="NCIT:C3130"} ! small intestine neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002116 ! ileum

[Term]
id: MONDO:0006802
name: inappropriate ADH syndrome
def: "A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ectopic ADH secretion" EXACT [NCIT:C3988]
synonym: "ectopic antidiuretic hormone secretion" EXACT [NCIT:C3988]
synonym: "inappropriate ADH secretion" EXACT [NCIT:C3988]
synonym: "inappropriate antidiuretic hormone secretion syndrome" EXACT [NCIT:C3988]
synonym: "inappropriate Arginine vasopressin secretion" EXACT [NCIT:C3988]
synonym: "SIADH" EXACT ABBREVIATION [NCIT:C3988, Orphanet:83449]
synonym: "syndrome of inappropriate antidiuretic hormone" EXACT [NCIT:C3988]
synonym: "syndrome of inappropriate antidiuretic hormone secretion" EXACT [DOID:3401, NCIT:C3988]
synonym: "syndrome of inappropriate secretion of ADH" EXACT [DOID:3401]
synonym: "syndrome of inappropriate secretion of antidiuretic hormone" EXACT [DOID:3401]
synonym: "syndrome of inappropriate vasopressin secretion" EXACT [NCIT:C3988]
xref: DOID:3401 {source="EFO:1000982", source="MONDO:equivalentTo"}
xref: EFO:1000982 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E22.2 {source="DOID:3401"}
xref: ICD9:253.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10042818 {source="EFO:1000982"}
xref: MEDGEN:5772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007177 {source="DOID:3401", source="EFO:1000982", source="MONDO:equivalentTo"}
xref: NANDO:1200376 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100116 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200323 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3988 {source="DOID:3401", source="MONDO:equivalentTo"}
xref: Orphanet:83449 {source="MONDO:equivalentObsolete"}
xref: SCTID:389983008 {source="DOID:3401"}
xref: SCTID:55004003 {source="DOID:3401", source="MONDO:equivalentTo"}
xref: UMLS:C0021141 {source="MEDGEN:5772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003381 {source="DOID:3401", source="MESH:D007177"} ! pituitary gland disorder
is_a: MONDO:0045072 {source="NCIT:C3988"} ! ectopic hormone secretion syndrome associated with neoplasia
relationship: disease_disrupts GO:0030103 ! vasopressin secretion

[Term]
id: MONDO:0006803
name: inferior myocardial infarction
def: "Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." [MESH:D056989]
subset: otar {source="MONDO:OTAR"}
xref: DOID:5850 {source="MONDO:equivalentTo", source="EFO:1000983"}
xref: EFO:1000983 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10057546 {source="EFO:1000983"}
xref: MEDGEN:83305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056989 {source="DOID:5850", source="MONDO:equivalentTo", source="EFO:1000983"}
xref: SCTID:194804002 {source="DOID:5850"}
xref: UMLS:C0340305 {source="MONDO:equivalentTo", source="MEDGEN:83305", source="MONDO:MEDGEN"}
is_a: MONDO:0005068 {source="DOID:5850", source="EFO:1000983", source="MESH:D056989"} ! myocardial infarction

[Term]
id: MONDO:0006804
name: inflammatory breast carcinoma
def: "An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma." [NCIT:C4001]
subset: otar {source="MONDO:OTAR"}
synonym: "breast cancer, inflammatory" RELATED [GARD:0006784]
synonym: "IBC" RELATED ABBREVIATION [ONCOTREE:IBC]
synonym: "inflammatory breast cancer" EXACT [NCIT:C4001]
synonym: "inflammatory breast carcinoma" EXACT [NCIT:C4001]
synonym: "inflammatory carcinoma of breast" EXACT [NCIT:C4001]
synonym: "inflammatory carcinoma of the breast" EXACT [NCIT:C4001]
synonym: "mastitis Carcinomatosa" EXACT [NCIT:C4001]
synonym: "mastitis carcinomatosa" EXACT [DOID:6263, NCIT:C4001]
xref: DOID:6263 {source="MONDO:equivalentTo", source="EFO:1000984"}
xref: EFO:1000984 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8530/3 {source="NCIT:C4001"}
xref: MedDRA:10006205 {source="EFO:1000984"}
xref: MEDGEN:75841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058922 {source="MONDO:equivalentTo", source="EFO:1000984", source="DOID:6263"}
xref: NCIT:C4001 {source="MONDO:equivalentTo", source="EFO:1000984", source="MONDO:exact-label-match", source="DOID:6263"}
xref: ONCOTREE:IBC {source="MONDO:equivalentTo"}
xref: SCTID:254840009 {source="MONDO:equivalentTo", source="EFO:1000984", source="DOID:6263"}
xref: UMLS:C0278601 {source="MEDGEN:75841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004988 {source="DOID:6263", source="EFO:1000984", source="NCIT:C4001"} ! breast adenocarcinoma
is_a: MONDO:0006256 {source="NCIT:C4001"} ! invasive breast carcinoma

[Term]
id: MONDO:0006805
name: intermediate coronary syndrome
def: "Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "angina at rest" EXACT [DOID:8805]
synonym: "anginal chest pain at rest" EXACT [DOID:8805]
synonym: "impending infarction" EXACT [DOID:8805]
synonym: "Preinfarction angina" EXACT [DOID:8805]
synonym: "unstable angina" EXACT [DOID:8805, MTH:NOCODE]
synonym: "worsening angina" EXACT [DOID:8805]
xref: DOID:8805 {source="MONDO:equivalentTo", source="EFO:1000985"}
xref: EFO:1000985 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I20.0 {source="MONDO:equivalentTo", source="DOID:8805"}
xref: ICD9:411.1 {source="DOID:8805", source="EFO:1000985"}
xref: MedDRA:10022554 {source="EFO:1000985"}
xref: MEDGEN:296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000789 {source="MONDO:equivalentTo", source="DOID:8805", source="EFO:1000985"}
xref: NCIT:C66911 {source="MONDO:otherHierarchy", source="DOID:8805"}
xref: SCTID:155308009 {source="DOID:8805"}
xref: SCTID:155313008 {source="DOID:8805"}
xref: SCTID:155314002 {source="DOID:8805"}
xref: SCTID:194814006 {source="DOID:8805"}
xref: SCTID:194816008 {source="DOID:8805"}
xref: SCTID:194817004 {source="DOID:8805"}
xref: SCTID:194819001 {source="DOID:8805"}
xref: SCTID:233818002 {source="DOID:8805"}
xref: SCTID:233820004 {source="DOID:8805"}
xref: SCTID:25106000 {source="DOID:8805"}
xref: SCTID:4557003 {source="DOID:8805"}
xref: SCTID:59021001 {source="DOID:8805"}
xref: SCTID:64333001 {source="DOID:8805"}
xref: UMLS:C0002965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:296"}
is_a: MONDO:0005010 {source="DOID:8805", source="EFO:1000985", source="EFO:1000985/inferred"} ! coronary artery disorder

[Term]
id: MONDO:0006806
name: intermediate uveitis
def: "Inflammation of the pars plana." [NCIT:C35110]
subset: gard_rare {source="GARD:21065", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279914"}
subset: orphanet_rare {source="Orphanet:279914"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic cyclitis" EXACT [DOID:12732]
synonym: "intermediate uveitis" EXACT [MONDO:ambiguous]
synonym: "intermediate uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "IU" EXACT ABBREVIATION [Orphanet:279914]
synonym: "pars planitis" NARROW [NCIT:C35110]
synonym: "peripheral uveoretinitis" EXACT [DOID:12732]
xref: DOID:12732 {source="MONDO:equivalentTo", source="EFO:1000986"}
xref: EFO:1000986 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21065 {source="MONDO:GARD"}
xref: HP:0012124 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H30.2 {source="Orphanet:279914/ntbt", source="Orphanet:279914"}
xref: MedDRA:10022557 {source="Orphanet:279914/e", source="EFO:1000986", source="Orphanet:279914"}
xref: MEDGEN:22596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015867 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"}
xref: NCIT:C35110 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"}
xref: Orphanet:279914 {source="MONDO:equivalentTo"}
xref: SCTID:155118006 {source="DOID:12732"}
xref: SCTID:193491003 {source="DOID:12732"}
xref: SCTID:308126005 {source="DOID:12732"}
xref: SCTID:314429009 {source="DOID:12732", source="MONDO:equivalentTo", source="EFO:1000986"}
xref: SCTID:398322000 {source="DOID:12732"}
xref: UMLS:C0042166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22596"}
is_a: MONDO:0020283 {source="DOID:12732", source="EFO:1000986", source="MESH:D015867", source="NCIT:C35110", source="Orphanet:279914"} ! uveitis
property_value: IAO:0000589 "intermediate uveitis (disease)" xsd:string

[Term]
id: MONDO:0006807
name: intestinal perforation
def: "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "bowel perforation" EXACT [NCIT:C39611]
synonym: "perforation of intestine" EXACT [DOID:2074, ICD9CM:569.83]
xref: DOID:2074 {source="MONDO:equivalentTo", source="EFO:1000987"}
xref: EFO:1000987 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:P78.0 {source="EFO:1000987"}
xref: ICD9:569.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2074"}
xref: ICD9:777.6 {source="EFO:1000987"}
xref: MedDRA:10022694 {source="EFO:1000987"}
xref: MEDGEN:9525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007416 {source="MONDO:equivalentTo", source="EFO:1000987", source="DOID:2074"}
xref: NCIT:C39611 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000987", source="DOID:2074"}
xref: SCTID:56905009 {source="MONDO:equivalentTo", source="EFO:1000987", source="DOID:2074"}
xref: UMLS:C0021845 {source="MEDGEN:9525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:2074", source="EFO:1000987", source="MESH:D007416"} ! intestinal disorder

[Term]
id: MONDO:0006808
name: intracranial arterial disease
def: "Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." [MESH:D020765]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13089 {source="EFO:1000990", source="MONDO:equivalentTo"}
xref: EFO:1000990 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:199819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020765 {source="EFO:1000990", source="MONDO:equivalentTo", source="DOID:13089"}
xref: UMLS:C0752138 {source="MEDGEN:199819", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011057 {source="DOID:13089", source="EFO:1000990", source="MESH:D020765"} ! cerebrovascular disorder

[Term]
id: MONDO:0006809
name: intracranial embolism
def: "Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases." [MESH:D020766]
subset: otar {source="MONDO:OTAR"}
synonym: "cerebral embolism" EXACT [DOID:4372]
synonym: "cerebral embolism with cerebral infarction" EXACT [DOID:4372]
xref: DOID:4372 {source="EFO:1000991", source="MONDO:equivalentTo"}
xref: EFO:1000991 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I66 {source="DOID:4372"}
xref: ICD9:434.1 {source="DOID:4372"}
xref: ICD9:434.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:155710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020766 {source="EFO:1000991", source="MONDO:equivalentTo", source="DOID:4372"}
xref: SCTID:155402009 {source="DOID:4372"}
xref: SCTID:75543006 {source="MONDO:equivalentTo", source="DOID:4372"}
xref: UMLS:C0752140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155710"}
is_a: MONDO:0011057 {source="DOID:4372", source="EFO:1000991", source="MESH:D020766/inferred"} ! cerebrovascular disorder

[Term]
id: MONDO:0006810
name: intracranial hypertension
def: "A finding characterized by increased cerebrospinal fluid pressure within the skull." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "raised intracranial pressure" EXACT [DOID:9428]
xref: DOID:9428 {source="MONDO:equivalentTo", source="EFO:1000992"}
xref: EFO:1000992 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10022764 {source="EFO:1000992"}
xref: MEDGEN:56241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019586 {source="DOID:9428", source="MONDO:equivalentTo", source="EFO:1000992"}
xref: NCIT:C84791 {source="DOID:9428", source="MONDO:otherHierarchy", source="EFO:1000992"}
xref: SCTID:155052007 {source="DOID:9428"}
xref: SCTID:267701004 {source="DOID:9428"}
xref: SCTID:271719001 {source="DOID:9428"}
xref: SCTID:28073009 {source="DOID:9428"}
xref: UMLS:C0151740 {source="MEDGEN:56241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005044 {source="EFO:1000992"} ! hypertensive disorder
is_a: MONDO:0005560 {source="DOID:9428", source="MESH:D019586"} ! brain disorder

[Term]
id: MONDO:0006811
name: intracranial hypotension
def: "Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" [MESH:D019585]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4723 {source="EFO:1000993", source="MONDO:equivalentTo"}
xref: EFO:1000993 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049977 {source="EFO:1000993"}
xref: MEDGEN:141851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019585 {source="DOID:4723", source="EFO:1000993", source="MONDO:equivalentTo"}
xref: SCTID:433691000124104 {source="DOID:4723", source="EFO:1000993", source="MONDO:equivalentTo"}
xref: UMLS:C0524812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141851"}
is_a: MONDO:0005560 {source="DOID:4723", source="EFO:1000993", source="MESH:D019585"} ! brain disorder

[Term]
id: MONDO:0006812
name: intracranial vasospasm
def: "Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain)." [MESH:D020301]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13100 {source="MONDO:equivalentTo", source="EFO:1000994"}
xref: EFO:1000994 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:199760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020301 {source="MONDO:equivalentTo", source="EFO:1000994", source="DOID:13100"}
xref: UMLS:C0751895 {source="MEDGEN:199760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011057 {source="DOID:13100", source="EFO:1000994", source="MESH:D020301"} ! cerebrovascular disorder

[Term]
id: MONDO:0006813
name: intradermal nevus
def: "A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction." [NCIT:C3804]
subset: otar {source="MONDO:OTAR"}
synonym: "dermal Nevus" EXACT [NCIT:C3804]
xref: DOID:2424 {source="EFO:1000995", source="MONDO:obsolete"}
xref: EFO:1000995 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8750/0 {source="NCIT:C3804"}
xref: MedDRA:10058537 {source="EFO:1000995"}
xref: MEDGEN:61670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018330 {source="MONDO:equivalentTo", source="EFO:1000995"}
xref: NCIT:C3804 {source="MONDO:equivalentTo", source="EFO:1000995", source="MONDO:exact-label-match"}
xref: SCTID:112681002 {source="EFO:1000995"}
xref: SCTID:302838006 {source="MONDO:equivalentTo"}
xref: UMLS:C0206737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61670"}
is_a: MONDO:0005073 {source="EFO:1000995", source="MESH:D018330", source="NCIT:C3804/inferred"} ! melanocytic nevus

[Term]
id: MONDO:0006814
name: iritis
def: "Inflammation of the iris." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammation of iris" EXACT []
synonym: "iris inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "iritis" EXACT [MONDO:ambiguous]
synonym: "iritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1406 {source="MONDO:equivalentTo", source="EFO:1000997"}
xref: EFO:1000997 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001101 {source="MONDO:otherHierarchy"}
xref: MedDRA:10022955 {source="EFO:1000997"}
xref: MEDGEN:7160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007500 {source="MONDO:equivalentTo", source="EFO:1000997", source="DOID:1406"}
xref: NCIT:C50621 {source="MONDO:equivalentTo", source="EFO:1000997", source="DOID:1406"}
xref: SCTID:65074000 {source="MONDO:equivalentTo", source="EFO:1000997", source="DOID:1406"}
xref: UMLS:C0022081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7160"}
is_a: MONDO:0002289 {source="DOID:1406", source="MESH:D007500", source="MONDO:Redundant"} ! iris disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001769 ! iris
property_value: IAO:0000589 "iritis (disease)" xsd:string

[Term]
id: MONDO:0006815
name: jejunal cancer
def: "A malignant neoplasm involving the jejunum." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of jejunum" EXACT [MONDO:patterns/cancer]
synonym: "jejunum cancer" EXACT [MONDO:patterns/location]
synonym: "malignant jejunum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of jejunum" EXACT [DOID:13499, ICD9CM:152.1, MONDO:patterns/cancer, MTH:U001249]
synonym: "malignant tumor of jejunum" EXACT [DOID:13499]
synonym: "malignant tumour of jejunum" EXACT OMO:0003005 []
xref: DOID:13499 {source="MONDO:equivalentTo", source="EFO:1000998"}
xref: EFO:1000998 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C17.1 {source="DOID:13499"}
xref: ICD9:152.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13499"}
xref: MedDRA:10023166 {source="EFO:1000998"}
xref: MEDGEN:56302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007580 {source="DOID:13499", source="EFO:1000998"}
xref: SCTID:363404008 {source="MONDO:equivalentTo", source="DOID:13499"}
xref: SCTID:93846004 {source="DOID:13499"}
xref: UMLS:C0153427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56302"}
is_a: MONDO:0000956 {source="DOID:13499", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! small intestine cancer
is_a: MONDO:0002564 {source="MONDO:Redundant"} ! jejunal neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002115 ! jejunum

[Term]
id: MONDO:0006816
name: arthropathy
def: "Any disorder of the joints." [NCIT:C35760]
subset: otar {source="MONDO:OTAR"}
synonym: "ankylosis of ankle and foot joint" NARROW [DOID:381]
synonym: "ankylosis of forearm joint" NARROW [DOID:381]
synonym: "ankylosis of hand joint" NARROW [DOID:381]
synonym: "ankylosis of joint of ankle and/or foot" EXACT [DOID:381]
synonym: "ankylosis of joint of forearm" EXACT [DOID:381]
synonym: "ankylosis of joint of hand" EXACT [DOID:381]
synonym: "ankylosis of joint of lower leg" EXACT [DOID:381]
synonym: "ankylosis of joint of multiple sites" NARROW [DOID:381]
synonym: "ankylosis of joint of pelvic region and thigh" NARROW [DOID:381]
synonym: "ankylosis of joint of shoulder region" NARROW [DOID:381]
synonym: "ankylosis of joint of upper arm" EXACT [DOID:381]
synonym: "ankylosis of lower leg joint" NARROW [DOID:381]
synonym: "ankylosis of multiple joints" NARROW [DOID:381]
synonym: "ankylosis of upper arm joint" NARROW [DOID:381]
synonym: "arthropathy" EXACT [NCIT:C35760]
synonym: "arthrosis" RELATED []
synonym: "disease of skeletal joint" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of skeletal joint" EXACT []
synonym: "disorder of joint" RELATED []
synonym: "disorder of skeletal joint" EXACT [MONDO:patterns/location_top]
synonym: "disorder, Joint" EXACT [NCIT:C35760]
synonym: "infectious arthropathy" NARROW [DOID:381]
synonym: "Joint ankylosis of the ankle and foot" NARROW [DOID:381]
synonym: "Joint ankylosis of the ankle and/or foot" EXACT [DOID:381]
synonym: "Joint ankylosis of the forearm" NARROW [DOID:381]
synonym: "Joint ankylosis of the hand" NARROW [DOID:381]
synonym: "Joint ankylosis of the lower leg" NARROW [DOID:381]
synonym: "Joint ankylosis of the pelvic region and thigh" NARROW [DOID:381]
synonym: "Joint ankylosis of the shoulder region" NARROW [DOID:381]
synonym: "Joint ankylosis of the upper arm" NARROW [DOID:381]
synonym: "joint disease" RELATED []
synonym: "Joint disorder" EXACT [NCIT:C35760]
synonym: "joint disorder" RELATED []
synonym: "skeletal joint disease" EXACT [MONDO:patterns/location]
synonym: "skeletal joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:381 {source="MONDO:equivalentTo", source="EFO:1000999"}
xref: EFO:1000999 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M00-M02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:381", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M05-M14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M12.9 {source="DOID:381"}
xref: ICD10CM:M15-M19
xref: ICD10CM:M19.90 {source="DOID:381"}
xref: ICD10CM:M20-M25 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:M25.9 {source="DOID:381"}
xref: ICD10CM:M26-M27 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:711 {source="DOID:381"}
xref: ICD9:716.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:716.88 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:716.9 {source="DOID:381"}
xref: ICD9:716.90 {source="DOID:381", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:716.98 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:719.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:719.88 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:719.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:719.9 {source="DOID:381"}
xref: ICD9:719.90 {source="DOID:381", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:719.98 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10003285 {source="EFO:1000999"}
xref: MEDGEN:7190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007592 {source="DOID:381", source="MONDO:equivalentTo"}
xref: NCIT:C35760 {source="DOID:381", source="MONDO:equivalentTo", source="EFO:1000999"}
xref: NCIT:C78402 {source="DOID:381"}
xref: SCTID:156508002 {source="DOID:381"}
xref: SCTID:156514009 {source="DOID:381"}
xref: SCTID:156616003 {source="DOID:381"}
xref: SCTID:196415003 {source="DOID:381"}
xref: SCTID:201455003 {source="DOID:381"}
xref: SCTID:202059001 {source="DOID:381"}
xref: SCTID:202061005 {source="DOID:381"}
xref: SCTID:202073005 {source="DOID:381"}
xref: SCTID:202634006 {source="DOID:381"}
xref: SCTID:202635007 {source="DOID:381"}
xref: SCTID:202645009 {source="DOID:381"}
xref: SCTID:202647001 {source="DOID:381"}
xref: SCTID:203721006 {source="DOID:381"}
xref: SCTID:203747002 {source="DOID:381"}
xref: SCTID:227588009 {source="DOID:381"}
xref: SCTID:267888004 {source="DOID:381"}
xref: SCTID:267904003 {source="DOID:381"}
xref: SCTID:268051001 {source="DOID:381"}
xref: SCTID:268056006 {source="DOID:381"}
xref: SCTID:268070006 {source="DOID:381"}
xref: SCTID:363162000 {source="DOID:381"}
xref: SCTID:371412008 {source="DOID:381"}
xref: SCTID:396233005 {source="DOID:381"}
xref: SCTID:396275006 {source="DOID:381"}
xref: SCTID:399269003 {source="DOID:381", source="MONDO:equivalentTo", source="EFO:1000999"}
xref: SCTID:48548006 {source="DOID:381"}
xref: SCTID:80843008 {source="DOID:381"}
xref: SCTID:8316001 {source="DOID:381"}
xref: SCTID:83486002 {source="DOID:381"}
xref: SCTID:90242006
xref: UMLS:C0022408 {source="MONDO:equivalentTo", source="MEDGEN:7190", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="DOID:381/inferred", source="MESH:D007592", source="MONDO:Redundant"} ! musculoskeletal system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000982 ! skeletal joint
relationship: excluded_subClassOf MONDO:0002614 {source="DOID:381", source="https://orcid.org/0000-0001-5208-3432"} ! bone inflammation disease

[Term]
id: MONDO:0006817
name: juxtacortical osteosarcoma
def: "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juxtacortical osteogenic sarcoma" EXACT [NCIT:C8969]
synonym: "juxtacortical osteosarcoma" EXACT [NCIT:C8969]
synonym: "PAOS" RELATED ABBREVIATION [ONCOTREE:PAOS]
synonym: "parosteal osteogenic sarcoma" EXACT [DOID:3373, NCIT:C8969]
synonym: "parosteal osteosarcoma" EXACT [DOID:3373, MTH:NOCODE, NCIT:C8969]
xref: DOID:3373 {source="EFO:1001000", source="MONDO:equivalentTo"}
xref: EFO:1001000 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9192/3 {source="NCIT:C8969"}
xref: MEDGEN:60197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018217 {source="EFO:1001000", source="MONDO:equivalentTo", source="DOID:3373"}
xref: NCIT:C8969 {source="MONDO:equivalentTo", source="DOID:3373"}
xref: ONCOTREE:PAOS {source="MONDO:equivalentTo"}
xref: SCTID:128918008 {source="DOID:3373"}
xref: SCTID:189879006 {source="DOID:3373"}
xref: SCTID:91242000 {source="DOID:3373"}
xref: UMLS:C0206642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60197"}
is_a: MONDO:0002628 {source="DOID:3373", source="NCIT:C8969"} ! peripheral osteosarcoma

[Term]
id: MONDO:0006818
name: obsolete keratoconjunctivitis sicca
is_obsolete: true
replaced_by: MONDO:0006733

[Term]
id: MONDO:0006819
name: obsolete kernicterus
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3604" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018477

[Term]
id: MONDO:0006820
name: kidney cortex necrosis
def: "Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity." [MESH:D007673]
synonym: "renal cortical necrosis" EXACT [DOID:2973]
xref: DOID:2973 {source="MONDO:equivalentTo", source="EFO:1001003"}
xref: ICD10CM:N17.1 {source="DOID:2973"}
xref: ICD9:583.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10023414 {source="EFO:1001003"}
xref: MEDGEN:9634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007673 {source="MONDO:equivalentTo", source="DOID:2973", source="EFO:1001003"}
xref: SCTID:444691002 {source="MONDO:equivalentTo", source="DOID:2973"}
xref: SCTID:45456005 {source="DOID:2973"}
xref: UMLS:C0022656 {source="MEDGEN:9634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:2973", source="EFO:1001003", source="MESH:D007673"} ! kidney disorder

[Term]
id: MONDO:0006821
name: kidney papillary necrosis
def: "A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure." [MESH:D007681]
synonym: "necrotizing renal papillitis" EXACT [DOID:2981]
synonym: "papillary necrosis" EXACT [DOID:2981]
synonym: "renal papillitis necrotizing" EXACT [DOID:2981, MTH:NOCODE]
xref: DOID:2981 {source="EFO:1001004", source="MONDO:equivalentTo"}
xref: ICD9:583.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10028865 {source="EFO:1001004"}
xref: MEDGEN:7212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007681 {source="DOID:2981", source="EFO:1001004", source="MONDO:equivalentTo"}
xref: SCTID:197651008 {source="DOID:2981"}
xref: SCTID:90241004 {source="DOID:2981", source="MONDO:equivalentTo"}
xref: UMLS:C0022667 {source="MEDGEN:7212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:2981", source="EFO:1001004", source="MESH:D007681", source="MONDO:Entailed"} ! kidney disorder
relationship: disease_has_location UBERON:0001228 ! renal papilla

[Term]
id: MONDO:0006822
name: obsolete Klatskin's tumor
is_obsolete: true
replaced_by: MONDO:0003345

[Term]
id: MONDO:0006823
name: Klinefelter syndrome
def: "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." [NCIT:P378]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "47,XXY syndrome" EXACT [NCIT:C34752, Orphanet:484]
synonym: "hypogonadotropic hypogonadism" RELATED [NCIT:C34752]
synonym: "Klinefelter syndrome" EXACT [DOID:1921, NCIT:C34752]
synonym: "Klinefelter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C34752]
synonym: "Klinefelter's syndrome, XXY" EXACT [NCIT:C34752]
synonym: "XXY syndrome" EXACT [DOID:1921, NCIT:C34752]
synonym: "XXY syndrome (Klinefelter syndrome)" EXACT [NCIT:C34752]
synonym: "XXY trisomy" EXACT [DOID:1921]
xref: DOID:1921 {source="MONDO:equivalentTo", source="EFO:1001006"}
xref: EFO:1001006 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q98.0 {source="DOID:1921"}
xref: ICD10CM:Q98.4 {source="DOID:1921"}
xref: ICD9:758.7 {source="EFO:1001006", source="DOID:1921", source="MONDO:directSiblingOf"}
xref: MedDRA:10023463 {source="EFO:1001006"}
xref: MEDGEN:44033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007713 {source="MONDO:equivalentTo", source="EFO:1001006", source="DOID:1921"}
xref: NANDO:2200386 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34752 {source="MONDO:equivalentTo", source="EFO:1001006", source="DOID:1921"}
xref: SCTID:157021007 {source="DOID:1921"}
xref: SCTID:205696000 {source="DOID:1921"}
xref: SCTID:205701007 {source="DOID:1921"}
xref: SCTID:205712007 {source="DOID:1921"}
xref: SCTID:22053006 {source="DOID:1921"}
xref: SCTID:268300003 {source="EFO:1001006"}
xref: SCTID:268357008 {source="DOID:1921"}
xref: SCTID:405769009 {source="MONDO:equivalentTo", source="DOID:1921"}
xref: SCTID:405770005 {source="DOID:1921"}
xref: UMLS:C0022735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44033"}
is_a: MONDO:0017975 {source="https://orcid.org/0000-0002-6601-2165"} ! sex chromosome disorder of sex development
is_a: MONDO:0019040 {source="DOID:1921"} ! chromosomal disorder
is_a: MONDO:0700065 {source="https://orcid.org/0000-0002-4142-7153"} ! trisomy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)
relationship: disease_has_feature HP:0000027 {source="MONDO:Wikidata"} ! Azoospermia
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0006824
name: Krebs 2 carcinoma
def: "Carcinoma having known association to krebs2 gene mutation" [EFO:1001007]
subset: otar {source="MONDO:OTAR"}
xref: DOID:4711 {source="MONDO:obsolete", source="EFO:1001007"}
xref: EFO:1001007 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:2842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002287 {source="MONDO:equivalentTo", source="EFO:1001007"}
xref: UMLS:C0007128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2842"}
is_a: MONDO:0004993 {source="EFO:1001007", source="MESH:D002287"} ! carcinoma

[Term]
id: MONDO:0006825
name: kuru
def: "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" [MESH:D007729]
subset: gard_rare {source="GARD:7617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454745"}
subset: orphanet_rare {source="Orphanet:454745"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "kuru encephalopathy" EXACT [DOID:648]
xref: DOID:648 {source="MONDO:equivalentTo", source="EFO:1001008"}
xref: EFO:1001008 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7617 {source="MONDO:GARD"}
xref: ICD10CM:A81.8 {source="Orphanet:454745", source="Orphanet:454745/ntbt"}
xref: ICD10CM:A81.81 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"}
xref: icd11.foundation:553889510 {source="MONDO:equivalentTo", source="Orphanet:454745"}
xref: ICD9:046.0 {source="DOID:648", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001008"}
xref: MedDRA:10023497 {source="EFO:1001008"}
xref: MEDGEN:9653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007729 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"}
xref: Orphanet:454745 {source="MONDO:equivalentTo"}
xref: SCTID:192684001 {source="DOID:648"}
xref: SCTID:86188000 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"}
xref: UMLS:C0022802 {source="MEDGEN:9653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0005429 {source="DOID:648", source="EFO:1001008", source="MESH:D007729"} ! prion disease
is_a: MONDO:0018926 {source="Orphanet:454745"} ! human prion disease
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7617/kuru" xsd:anyURI {source="GARD:0007617"}

[Term]
id: MONDO:0006826
name: kwashiorkor
def: "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" [MESH:D007732]
subset: otar {source="MONDO:OTAR"}
synonym: "Kwashiokor" EXACT [DOID:13579]
synonym: "nutritional edema with dyspigmentation of skin and hair" EXACT [DOID:13579]
synonym: "nutritional edema with dyspigmentation of skin and/or hair" EXACT [DOID:13579]
synonym: "nutritional oedema with dyspigmentation of skin and hair" EXACT OMO:0003005 []
synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT OMO:0003005 []
xref: DOID:13579 {source="MONDO:equivalentTo", source="EFO:1001009"}
xref: EFO:1001009 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E40 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"}
xref: ICD9:260 {source="DOID:13579", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10023504 {source="EFO:1001009"}
xref: MEDGEN:7233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007732 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"}
xref: SCTID:154730001 {source="DOID:13579"}
xref: SCTID:267495004 {source="DOID:13579"}
xref: SCTID:58262005 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"}
xref: UMLS:C0022806 {source="MEDGEN:7233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001371 {source="DOID:13579"} ! protein-energy malnutrition

[Term]
id: MONDO:0006827
name: lateral medullary syndrome
def: "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Lateral medullary syndrome" RELATED [GARD:0009263]
synonym: "PICA syndrome" RELATED [GARD:0009263]
synonym: "Posterior inferior cerebellar artery syndrome" EXACT [DOID:3522, GARD:0009263]
synonym: "Vertebral artery syndrome" RELATED [GARD:0009263]
synonym: "Wallenberg syndrome" EXACT [DOID:3522]
synonym: "Wallenberg's syndrome" EXACT [GARD:0009263, NCIT:C84807]
xref: DOID:3522 {source="EFO:1001011", source="MONDO:equivalentTo"}
xref: EFO:1001011 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G46.3 {source="DOID:3522"}
xref: ICD9:437.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10024033 {source="EFO:1001011"}
xref: MEDGEN:53057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014854 {source="EFO:1001011", source="DOID:3522", source="MONDO:equivalentTo"}
xref: NCIT:C84807 {source="EFO:1001011", source="DOID:3522", source="MONDO:equivalentTo"}
xref: SCTID:195193009 {source="DOID:3522"}
xref: SCTID:78569004 {source="DOID:3522", source="MONDO:equivalentTo"}
xref: UMLS:C0043019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:53057"}
is_a: MONDO:0002254 {source="NCIT:C84807"} ! syndromic disease
is_a: MONDO:0006686 {source="DOID:3522", source="EFO:1001011", source="MESH:D014854"} ! brain stem infarction

[Term]
id: MONDO:0006828
name: nasal cavity and paranasal sinus lethal midline granuloma
def: "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." [NCIT:C8196]
comment: Editor note: TODO granuloma DP
subset: otar {source="MONDO:OTAR"}
synonym: "lethal midline granuloma" RELATED [DOID:9072]
synonym: "malignant granuloma of face" EXACT [DOID:9072]
synonym: "midfacial Necrotising lesion" EXACT [DOID:9072, NCIT:C8196]
synonym: "Midline lethal granuloma of nasal cavity and paranasal sinus" EXACT [NCIT:C8196]
synonym: "Midline lethal granuloma of the nasal cavity and paranasal sinus" EXACT [NCIT:C8196]
synonym: "nasal cavity and paranasal sinus lethal Midline granuloma" EXACT [NCIT:C8196]
xref: DOID:9072 {source="EFO:1001013", source="MONDO:equivalentTo"}
xref: EFO:1001013 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M31.2 {source="DOID:9072", source="EFO:1001013"}
xref: ICD9:446.3 {source="DOID:9072", source="EFO:1001013"}
xref: MedDRA:10024255 {source="EFO:1001013"}
xref: MEDGEN:42292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006103 {source="DOID:9072", source="EFO:1001013", source="MONDO:equivalentTo"}
xref: NCIT:C8196 {source="DOID:9072", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: SCTID:58961005 {source="DOID:9072", source="EFO:1001013"}
xref: UMLS:C0018197 {source="MONDO:equivalentTo", source="MEDGEN:42292", source="MONDO:MEDGEN"}
is_a: MONDO:0002436 {source="DOID:9072", source="MESH:D006103"} ! nasal disorder
is_a: MONDO:0005586 {source="EFO:1001013", source="MONDO:Entailed"} ! head and neck neoplasm

[Term]
id: MONDO:0006829
name: leukemoid reaction
def: "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear." [NCIT:P378]
comment: Represents a finding, may be obsoleted.
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:1001014 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D72.823 {source="MONDO:equivalentTo"}
xref: ICD9:288.62 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10024373 {source="EFO:1001014"}
xref: MEDGEN:44129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007955 {source="MONDO:equivalentTo", source="EFO:1001014"}
xref: NCIT:C3185 {source="MONDO:otherHierarchy", source="EFO:1001014"}
xref: SCTID:56478004 {source="MONDO:equivalentTo", source="EFO:1001014"}
xref: UMLS:C0023501 {source="MEDGEN:44129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004959 {source="EFO:1001014"} ! plasma cell neoplasm

[Term]
id: MONDO:0006830
name: leukoplakia of penis
def: "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." [NCIT:P378]
synonym: "kraurosis of penis" EXACT [DOID:8738]
synonym: "kraurosis penis" EXACT [NCIT:C3151]
synonym: "leukoplakia of the penis" EXACT [NCIT:C3151]
synonym: "penile leukoplakia" EXACT [DOID:8738, NCIT:C3151]
xref: DOID:8738 {source="EFO:1001015", source="MONDO:equivalentTo"}
xref: ICD10CM:N48.0 {source="DOID:8738", source="EFO:1001015"}
xref: ICD9:607.0 {source="DOID:8738", source="EFO:1001015", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10024394 {source="EFO:1001015"}
xref: MEDGEN:44036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052798 {source="DOID:8738", source="EFO:1001015"}
xref: NCIT:C3151 {source="DOID:8738", source="MONDO:equivalentTo"}
xref: SCTID:155932009 {source="DOID:8738"}
xref: SCTID:198019005 {source="DOID:8738"}
xref: SCTID:266639006 {source="DOID:8738"}
xref: SCTID:3323003 {source="DOID:8738", source="EFO:1001015", source="MONDO:equivalentTo"}
xref: UMLS:C0022782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44036"}
is_a: MONDO:0002036 {source="DOID:8738", source="MONDO:Redundant"} ! penile disorder
intersection_of: MONDO:0043243 ! leukoplakia
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0006831
name: leukostasis
def: "A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukostasis (morphologic abnormality)" EXACT [DOID:12986]
xref: DOID:12986 {source="MONDO:equivalentTo", source="EFO:1001016"}
xref: EFO:1001016 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10024404 {source="EFO:1001016"}
xref: MEDGEN:84394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018921 {source="DOID:12986", source="MONDO:equivalentTo", source="EFO:1001016"}
xref: NCIT:C4062 {source="DOID:12986", source="MONDO:otherHierarchy", source="EFO:1001016"}
xref: SCTID:30419000 {source="DOID:12986", source="EFO:1001016"}
xref: UMLS:C0282548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:84394"}
is_a: MONDO:0004805 {source="DOID:12986", source="MESH:D018921"} ! leukocyte disorder

[Term]
id: MONDO:0006832
name: obsolete limited scleroderma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4633" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016358

[Term]
id: MONDO:0006833
name: lingual goiter
def: "Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms." [MESH:D047268]
xref: DOID:13196 {source="MONDO:equivalentTo", source="EFO:1001018"}
xref: ICD9:759.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D047268 {source="DOID:13196", source="MONDO:equivalentTo", source="EFO:1001018"}
xref: SCTID:75667007 {source="DOID:13196", source="MONDO:equivalentTo", source="EFO:1001018"}
xref: UMLS:C0271760 {source="MEDGEN:75766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005397 {source="DOID:13196", source="EFO:1001018", source="MESH:D047268"} ! goiter

[Term]
id: MONDO:0006834
name: lip cancer
def: "A primary or metastatic malignant neoplasm involving the lip." [NCIT:C7485]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of lip" EXACT [MONDO:patterns/cancer]
synonym: "lip cancer" EXACT [MONDO:patterns/location]
synonym: "malignant Lip neoplasm" EXACT [NCIT:C7485]
synonym: "malignant lip neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant Lip tumor" EXACT [NCIT:C7485]
synonym: "malignant Lip tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of commissure of lip" EXACT [DOID:8564]
synonym: "malignant neoplasm of external Lip, not specified as upper or lower" EXACT [DOID:8564]
synonym: "malignant neoplasm of labial commissure of lip" EXACT [DOID:8564]
synonym: "malignant neoplasm of Lip" EXACT [NCIT:C7485]
synonym: "malignant neoplasm of lip" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of lip, external" EXACT [DOID:8564]
synonym: "malignant neoplasm of lip, inner aspect" EXACT [DOID:8564, MTH:NOCODE]
synonym: "malignant neoplasm of lip, unspecified" EXACT [DOID:8564]
synonym: "malignant neoplasm of lip, unspecified, inner aspect" EXACT [DOID:8564]
synonym: "malignant neoplasm of lip, unspecified, vermilion border" EXACT [DOID:8564]
synonym: "malignant neoplasm of lip, vermilion border" EXACT [DOID:8564]
synonym: "malignant neoplasm of lower lip, buccal aspect" EXACT [DOID:8564]
synonym: "malignant neoplasm of lower lip, inner aspect" EXACT [DOID:8564]
synonym: "malignant neoplasm of lower lip, mucosa" EXACT [DOID:8564]
synonym: "malignant neoplasm of lower lip, oral aspect" EXACT [DOID:8564]
synonym: "malignant neoplasm of oral aspect of lip, not specified whether upper or lower" EXACT [DOID:8564]
synonym: "malignant neoplasm of other sites of lip" EXACT [DOID:8564]
synonym: "malignant neoplasm of the Lip" EXACT [NCIT:C7485]
synonym: "malignant neoplasm of vermilion border of lip" EXACT [DOID:8564]
synonym: "malignant tumor of commissure of lip" EXACT [DOID:8564, MTH:NOCODE]
synonym: "malignant tumor of labial commissure" EXACT [DOID:8564]
synonym: "malignant tumor of labial mucosa" EXACT [DOID:8564]
synonym: "malignant tumor of Lip" EXACT [NCIT:C7485]
synonym: "malignant tumor of lip" EXACT [DOID:8564]
synonym: "malignant tumor of lower labial mucosa" EXACT [DOID:8564]
synonym: "malignant tumor of the Lip" EXACT [DOID:8564, NCIT:C7485]
synonym: "malignant tumour of commissure of lip" EXACT OMO:0003005 []
synonym: "malignant tumour of labial commissure" EXACT OMO:0003005 []
synonym: "malignant tumour of labial mucosa" EXACT OMO:0003005 []
synonym: "malignant tumour of Lip" EXACT OMO:0003005 []
synonym: "malignant tumour of lip" EXACT OMO:0003005 []
synonym: "malignant tumour of lower labial mucosa" EXACT OMO:0003005 []
synonym: "malignant tumour of the Lip" EXACT OMO:0003005 []
xref: DOID:8564 {source="MONDO:equivalentTo", source="EFO:1001019"}
xref: EFO:1001019 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C00 {source="MONDO:equivalentTo", source="DOID:8564"}
xref: ICD10CM:C00.9 {source="DOID:8564"}
xref: ICD9:140 {source="DOID:8564"}
xref: ICD9:140.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:140.6 {source="DOID:8564"}
xref: ICD9:140.8 {source="DOID:8564"}
xref: MedDRA:10007089 {source="EFO:1001019"}
xref: MEDGEN:57548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008048 {source="MONDO:equivalentTo", source="EFO:1001019", source="DOID:8564"}
xref: NCIT:C7485 {source="MONDO:equivalentTo", source="DOID:8564"}
xref: SCTID:187599002 {source="DOID:8564"}
xref: SCTID:187622006 {source="MONDO:equivalentTo"}
xref: SCTID:187625008 {source="DOID:8564"}
xref: SCTID:187626009 {source="DOID:8564"}
xref: SCTID:309808004 {source="DOID:8564"}
xref: SCTID:363348004 {source="DOID:8564"}
xref: SCTID:363374005 {source="DOID:8564"}
xref: SCTID:93762003 {source="DOID:8564"}
xref: SCTID:93869001 {source="DOID:8564"}
xref: UMLS:C0153340 {source="MEDGEN:57548", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004748 {source="DOID:8564", source="MESH:D008048", source="MONDO:Redundant", source="NCIT:C7485/inferred"} ! lip disorder
is_a: MONDO:0005515 {source="DOID:8564", source="EFO:1001019"} ! oral cavity cancer
is_a: MONDO:0021249 {source="MONDO:Redundant", source="NCIT:C7485"} ! lip neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001833 ! lip

[Term]
id: MONDO:0006835
name: lipoid nephrosis
def: "A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome." [NCIT:C34844]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic minimal change nephrotic syndrome" RELATED [GARD:0009147]
synonym: "lipoid nephrosis" EXACT [NCIT:C34844]
synonym: "MCNS" RELATED ABBREVIATION [GARD:0009147]
synonym: "minimal change disease" EXACT [DOID:10966, NCIT:C34844]
synonym: "minimal change glomerulonephritis" EXACT [DOID:10966, NCIT:C34844]
synonym: "minimal change glomerulopathy" RELATED [GARD:0009147]
synonym: "minimal change nephropathy" EXACT [NCIT:C34844]
synonym: "minimal change nephrotic syndrome" RELATED [GARD:0009147]
synonym: "nephrotic syndrome with lesion of minimal change glomerulonephritis" RELATED [DOID:10966, ICD9CM:581.3]
synonym: "nephrotic syndrome with lesion of minimal change nephrotic syndrome" RELATED [DOID:10966]
synonym: "nil disease" EXACT [NCIT:C34844]
xref: DOID:10966 {source="EFO:1001020", source="MONDO:equivalentTo"}
xref: EFO:1001020 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N04 {source="DOID:10966"}
xref: MedDRA:10058325 {source="EFO:1001020"}
xref: MEDGEN:10307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009402 {source="EFO:1001020", source="DOID:10966", source="MONDO:equivalentTo"}
xref: NANDO:1200720 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200112 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34844 {source="EFO:1001020", source="DOID:10966", source="MONDO:equivalentTo"}
xref: SCTID:197592009 {source="DOID:10966"}
xref: SCTID:44785005 {source="EFO:1001020", source="DOID:10966", source="MONDO:equivalentTo"}
xref: UMLS:C0027721 {source="MEDGEN:10307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="DOID:10966", source="NCIT:C34844"} ! glomerulonephritis
relationship: excluded_subClassOf MONDO:0005377 {source="DOID:10966", source="https://orcid.org/0000-0001-5208-3432"} ! nephrotic syndrome

[Term]
id: MONDO:0006836
name: Listeria meningitis
def: "Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)" [MESH:D008584]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cerebritides, Listeria" RELATED [MESH:D008584]
synonym: "cerebritis, Listeria" RELATED [MESH:D008584]
synonym: "Listeria Cerebritides" RELATED [MESH:D008584]
synonym: "Listeria cerebritis" RELATED [MESH:D008584]
synonym: "Listeria Meningitides" RELATED [MESH:D008584]
synonym: "Listeria meningitis" EXACT [MESH:D008584]
synonym: "Listeria Meningoencephalitides" RELATED [MESH:D008584]
synonym: "Listeria meningoencephalitis" RELATED [MESH:D008584]
synonym: "Listeria monocytogenes caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Listeria monocytogenes infectious meningitis" EXACT []
synonym: "Listeria monocytogenes Meningitides" RELATED [MESH:D008584]
synonym: "Listeria monocytogenes meningitis" RELATED [MESH:D008584]
synonym: "Meningitides, Listeria" RELATED [MESH:D008584]
synonym: "Meningitides, Listeria monocytogenes" RELATED [MESH:D008584]
synonym: "meningitis, Listeria monocytogenes" RELATED [MESH:D008584]
synonym: "Meningoencephalitides, Listeria" RELATED [MESH:D008584]
synonym: "meningoencephalitis, Listeria" RELATED [MESH:D008584]
xref: DOID:11572 {source="EFO:1001021", source="MONDO:equivalentTo"}
xref: EFO:1001021 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:320.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008584 {source="EFO:1001021", source="MONDO:equivalentTo", source="DOID:11572"}
xref: SCTID:230151007 {source="DOID:11572"}
xref: SCTID:31568009 {source="EFO:1001021", source="MONDO:equivalentTo", source="DOID:11572"}
xref: UMLS:C0025293 {source="MONDO:equivalentTo", source="MEDGEN:7536", source="MONDO:MEDGEN"}
is_a: MONDO:0005828 {source="MESH:D008584", source="MONDO:Redundant"} ! listeriosis
is_a: MONDO:0006670 {source="DOID:11572", source="EFO:1001021", source="MESH:D008584", source="MONDO:Redundant"} ! bacterial meningitis
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:1639 ! Listeria monocytogenes

[Term]
id: MONDO:0006837
name: low tension glaucoma
def: "A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure." [MESH:D057066]
subset: otar {source="MONDO:OTAR"}
synonym: "glaucoma, Low tension" RELATED [MESH:D057066]
synonym: "glaucoma, normal tension" RELATED [MESH:D057066]
synonym: "Glaucomas, Low tension" RELATED [MESH:D057066]
synonym: "Glaucomas, normal tension" RELATED [MESH:D057066]
synonym: "low tension Glaucomas" RELATED [MESH:D057066]
synonym: "normal tension glaucoma" EXACT [DOID:13544, MESH:D057066]
synonym: "normal tension Glaucomas" RELATED [MESH:D057066]
synonym: "tension glaucoma, Low" RELATED [MESH:D057066]
synonym: "tension glaucoma, normal" RELATED [MESH:D057066]
synonym: "tension Glaucomas, Low" RELATED [MESH:D057066]
synonym: "tension Glaucomas, normal" RELATED [MESH:D057066]
xref: DOID:13544 {source="EFO:1001022", source="MONDO:equivalentTo"}
xref: EFO:1001022 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H40.12 {source="DOID:13544"}
xref: ICD9:365.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13544"}
xref: MedDRA:10024931 {source="EFO:1001022"}
xref: MEDGEN:56263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057066 {source="EFO:1001022", source="MONDO:equivalentTo", source="DOID:13544"}
xref: SCTID:155124000 {source="DOID:13544"}
xref: SCTID:193567005 {source="DOID:13544"}
xref: SCTID:50485007 {source="EFO:1001022", source="MONDO:equivalentTo", source="DOID:13544"}
xref: UMLS:C0152136 {source="MEDGEN:56263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002135 {source="MESH:D057066"} ! optic nerve disorder
is_a: MONDO:0005338 {source="DOID:13544", source="EFO:1001022"} ! open-angle glaucoma

[Term]
id: MONDO:0006838
name: lupus vulgaris
def: "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa." [MESH:D008177]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:5380 {source="EFO:1001023", source="MONDO:obsolete"}
xref: EFO:1001023 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10025143 {source="EFO:1001023"}
xref: MEDGEN:9821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008177 {source="EFO:1001023", source="MONDO:equivalentTo"}
xref: SCTID:10528009 {source="EFO:1001023", source="MONDO:equivalentTo"}
xref: UMLS:C0024131 {source="MEDGEN:9821", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis
relationship: excluded_subClassOf MONDO:0018076 {source="EFO:1001023", source="MESH:D008177/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4143" xsd:anyURI

[Term]
id: MONDO:0006839
name: Lutembacher syndrome
def: "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis." [MESH:D008185]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Lutembacher syndrome" EXACT [DOID:1998]
synonym: "Lutembacher's anomaly" EXACT [DOID:1998]
synonym: "Lutembacher's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MESH:D008185, MONDO:LexicalVariant]
synonym: "Lutembachers syndrome" RELATED [MESH:D008185]
synonym: "syndrome, Lutembacher" RELATED [MESH:D008185]
synonym: "syndrome, Lutembacher's" RELATED [MESH:D008185]
xref: DOID:1998 {source="EFO:1001024", source="MONDO:equivalentTo"}
xref: MEDGEN:9825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008185 {source="EFO:1001024", source="MONDO:equivalentTo", source="DOID:1998"}
xref: SCTID:204319006 {source="EFO:1001024", source="MONDO:equivalentTo", source="DOID:1998"}
xref: SCTID:38842003 {source="DOID:1998"}
xref: UMLS:C0024164 {source="MEDGEN:9825", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006664 {source="DOID:1998", source="EFO:1001024", source="MESH:D008185"} ! atrial septal defect

[Term]
id: MONDO:0006840
name: lymphangiectasis
def: "Dilatation of the lymphatic vessels." [NCIT:C97087]
subset: otar {source="MONDO:OTAR"}
synonym: "lymphangiectasia" RELATED [GARD:0006933]
xref: DOID:2402 {source="EFO:1001025", source="MONDO:obsolete"}
xref: EFO:1001025 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:9827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008200 {source="MONDO:equivalentTo", source="EFO:1001025"}
xref: NCIT:C97087 {source="MONDO:equivalentTo"}
xref: UMLS:C0024214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9827"}
is_a: MONDO:0005833 {source="EFO:1001025", source="MESH:D008200"} ! lymphatic system disorder
is_a: MONDO:0021658 {source="NCIT:C97087"} ! vascular ectasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis" xsd:anyURI {source="GARD:0006933"}

[Term]
id: MONDO:0006841
name: lymphangioendothelioma
def: "A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques." [NCIT:C3203]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired progressive lymphangioma" EXACT [NCIT:C3203]
xref: DOID:3340 {source="EFO:1001026", source="MONDO:obsolete"}
xref: EFO:1001026 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:7411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008202 {source="EFO:1001026"}
xref: NCIT:C3203 {source="MONDO:equivalentTo"}
xref: SCTID:403975006 {source="MONDO:equivalentTo"}
xref: UMLS:C0024217 {source="MEDGEN:7411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002013 {source="NCIT:C3203"} ! lymphangioma
is_a: MONDO:0005070 {source="EFO:1001026", source="MONDO:Redundant", source="NCIT:C3203/inferred"} ! neoplasm

[Term]
id: MONDO:0006842
name: lymphangiomyoma
def: "A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum." [NCIT:C3204]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphangioleiomyoma" EXACT [NCIT:C3204]
synonym: "lymphangiomyoma" EXACT [NCIT:C3204]
xref: DOID:2642 {source="EFO:1001027", source="MONDO:obsolete"}
xref: EFO:1001027 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9174/0 {source="NCIT:C3204"}
xref: MEDGEN:44216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008203 {source="MONDO:equivalentTo", source="EFO:1001027"}
xref: NCIT:C3204 {source="MONDO:equivalentTo", source="EFO:1001027"}
xref: SCTID:25239006 {source="EFO:1001027"}
xref: UMLS:C0024223 {source="MEDGEN:44216", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006359 {source="EFO:1001027", source="NCIT:C3204"} ! neoplasm with perivascular epithelioid cell differentiation

[Term]
id: MONDO:0006843
name: macular holes
def: "A hole in the macula of the retina." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "macular hole" EXACT [DOID:7633]
xref: DOID:7633 {source="MONDO:equivalentTo", source="EFO:1001028"}
xref: EFO:1001028 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:6176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012167 {source="DOID:7633", source="MONDO:relatedTo", source="EFO:1001028"}
xref: NCIT:C34795 {source="DOID:7633", source="MONDO:equivalentTo"}
xref: SCTID:193388002 {source="DOID:7633"}
xref: SCTID:232006002 {source="DOID:7633", source="MONDO:equivalentTo"}
xref: UMLS:C0024441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6176"}
is_a: MONDO:0005283 {source="DOID:7633"} ! retinal disorder

[Term]
id: MONDO:0006844
name: magnesium deficiency
def: "A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" [MESH:D008275]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13581 {source="MONDO:obsolete", source="EFO:1001029"}
xref: EFO:1001029 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E61.2 {source="MONDO:equivalentTo", source="EFO:1001029"}
xref: MedDRA:10025433 {source="EFO:1001029"}
xref: MEDGEN:44244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008275 {source="MONDO:equivalentTo", source="EFO:1001029"}
xref: SCTID:238118002 {source="MONDO:equivalentTo", source="EFO:1001029"}
xref: UMLS:C0024473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44244"}
is_a: MONDO:0006873 {source="EFO:1001029", source="MESH:D008275"} ! nutritional deficiency disease

[Term]
id: MONDO:0006845
name: male genital tuberculosis
def: "Mycobacterium infections of the male reproductive tract (genitalia, male)." [MESH:D014389]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "genital Tuberculoses, Male" RELATED [MESH:D014389]
synonym: "genital tuberculosis, Male" RELATED [MESH:D014389]
synonym: "Male genital Tuberculoses" RELATED [MESH:D014389]
synonym: "male genital tuberculosis" EXACT [MESH:D014389]
synonym: "male reproductive system tuberculosis" EXACT [MONDO:patterns/location]
synonym: "Tuberculoses, Male genital" RELATED [MESH:D014389]
xref: DOID:8024 {source="EFO:1001030", source="MONDO:obsolete"}
xref: MedDRA:10061234 {source="EFO:1001030"}
xref: MEDGEN:52886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014389 {source="EFO:1001030", source="MONDO:equivalentTo"}
xref: SCTID:240379005 {source="EFO:1001030", source="MONDO:equivalentTo"}
xref: UMLS:C0041317 {source="MEDGEN:52886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="MESH:D014389", source="MONDO:Redundant"} ! male reproductive system disorder
is_a: MONDO:0006002 {source="MESH:D014389", source="MONDO:Redundant"} ! urogenital tuberculosis
is_a: MONDO:0018076 {source="EFO:1001030", source="MESH:D014389/inferred", source="MONDO:Redundant"} ! tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0000079 ! male reproductive system
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0006846
name: malignant hypertension
def: "Severe hypertension that is characterized by rapid onset of extremely high blood pressure." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "accelerated-malignant hypertension" EXACT [PMID:26658350]
synonym: "hypertensive emergency" EXACT [Wikipedia:Hypertensive_emergency]
synonym: "malignant phase hypertension" EXACT [PMID:26658350]
synonym: "MHT" BROAD ABBREVIATION [PMID:26658350]
xref: DOID:10824 {source="EFO:1001031", source="MONDO:equivalentTo"}
xref: EFO:1001031 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10025600 {source="EFO:1001031"}
xref: MEDGEN:9374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006974 {source="EFO:1001031", source="MONDO:equivalentTo", source="DOID:10824"}
xref: NCIT:C3118 {source="EFO:1001031", source="MONDO:otherHierarchy", source="DOID:10824"}
xref: SCTID:155301003 {source="DOID:10824"}
xref: SCTID:286951002 {source="DOID:10824"}
xref: SCTID:70272006 {source="EFO:1001031", source="MONDO:equivalentTo", source="DOID:10824"}
xref: UMLS:C0020540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9374"}
is_a: MONDO:0005044 {source="DOID:10824", source="EFO:1001031", source="MESH:D006974"} ! hypertensive disorder

[Term]
id: MONDO:0006847
name: malignant lymphatic vessel tumor
def: "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." [MESH:D018190]
comment: Editor note: do not axiomatize as cancer of lymphatic vessel
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:1744 {source="EFO:1001032", source="MONDO:obsolete"}
xref: MESH:D018190 {source="EFO:1001032"}
xref: SCTID:115236002 {source="EFO:1001032"}
is_a: MONDO:0005157 {source="EFO:1001032"} ! lymphoid neoplasm

[Term]
id: MONDO:0006848
name: marasmus
def: "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." [EFO:1001033]
subset: otar {source="MONDO:OTAR"}
synonym: "nutritional atrophy" EXACT [DOID:12328]
synonym: "nutritional marasmus" EXACT [DOID:12328, ICD9CM:261]
xref: DOID:12328 {source="EFO:1001033", source="MONDO:equivalentTo"}
xref: EFO:1001033 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E41 {source="DOID:12328", source="EFO:1001033", source="MONDO:equivalentTo"}
xref: ICD9:261 {source="DOID:12328", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10026820 {source="EFO:1001033"}
xref: MEDGEN:39251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011502 {source="DOID:12328", source="EFO:1001033"}
xref: SCTID:154730001 {source="DOID:12328"}
xref: SCTID:190599003 {source="DOID:12328"}
xref: SCTID:267495004 {source="DOID:12328"}
xref: SCTID:29740003 {source="DOID:12328", source="EFO:1001033", source="MONDO:equivalentTo"}
xref: UMLS:C0086588 {source="MEDGEN:39251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001371 {source="DOID:12328"} ! protein-energy malnutrition

[Term]
id: MONDO:0006849
name: mastitis
def: "Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men." [https://www.nhs.uk/conditions/mastitis/, NCIT:P378, Wikipedia:Mastitis#Types]
subset: otar {source="MONDO:OTAR"}
synonym: "breast infection" EXACT [NCIT:C53662]
synonym: "breast inflammation" EXACT [DOID:10690, MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of breast" EXACT []
synonym: "inflammatory breast disease" EXACT [DOID:10690]
synonym: "inflammatory disease of breast" EXACT [DOID:10690, ICD9CM:611.0]
xref: DOID:10690 {source="EFO:1001034", source="MONDO:equivalentTo"}
xref: EFO:1001034 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10026883 {source="EFO:1001034"}
xref: MEDGEN:9901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008413 {source="EFO:1001034", source="MONDO:equivalentTo", source="DOID:10690"}
xref: NCIT:C53662 {source="EFO:1001034", source="MONDO:equivalentTo", source="DOID:10690"}
xref: SCTID:155952005 {source="DOID:10690"}
xref: SCTID:155955007 {source="DOID:10690"}
xref: SCTID:198099006 {source="DOID:10690"}
xref: SCTID:266641007 {source="DOID:10690"}
xref: SCTID:266644004 {source="DOID:10690"}
xref: SCTID:45198002 {source="EFO:1001034", source="MONDO:equivalentTo", source="DOID:10690"}
xref: UMLS:C0024894 {source="MONDO:equivalentTo", source="MEDGEN:9901", source="MONDO:MEDGEN"}
is_a: MONDO:0002657 {source="DOID:10690", source="MESH:D008413", source="MONDO:Redundant", source="NCIT:C53662/inferred"} ! breast disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000310 ! breast
relationship: excluded_subClassOf MONDO:0005039 {source="EFO:1001034", source="https://orcid.org/0000-0001-5208-3432"} ! reproductive system disorder

[Term]
id: MONDO:0006850
name: maxillary sinus neoplasm
alt_id: MONDO:0021213
def: "A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C3219]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maxillary antrum neoplasm" EXACT [NCIT:C3219]
synonym: "maxillary antrum tumor" EXACT [NCIT:C3219]
synonym: "maxillary antrum tumour" EXACT OMO:0003005 []
synonym: "maxillary sinus neoplasm" EXACT [NCIT:C3219]
synonym: "maxillary sinus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "maxillary sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3219]
synonym: "maxillary sinus tumour" EXACT OMO:0003005 []
synonym: "maxillofacial sinus neoplasm" EXACT [NCIT:C3219]
synonym: "maxillofacial sinus tumor" EXACT [NCIT:C3219]
synonym: "maxillofacial sinus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of maxillary antrum" EXACT [NCIT:C3219]
synonym: "neoplasm of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219]
synonym: "neoplasm of maxillofacial sinus" EXACT [NCIT:C3219]
synonym: "neoplasm of the maxillary antrum" EXACT [NCIT:C3219]
synonym: "neoplasm of the maxillary sinus" EXACT [NCIT:C3219]
synonym: "neoplasm of the maxillofacial sinus" EXACT [NCIT:C3219]
synonym: "tumor of maxillary antrum" EXACT [NCIT:C3219]
synonym: "tumor of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219]
synonym: "tumor of maxillofacial sinus" EXACT [DOID:1358, NCIT:C3219]
synonym: "tumor of the maxillary antrum" EXACT [NCIT:C3219]
synonym: "tumor of the maxillary sinus" EXACT [NCIT:C3219]
synonym: "tumor of the maxillofacial sinus" EXACT [NCIT:C3219]
synonym: "tumour of maxillary antrum" EXACT OMO:0003005 []
synonym: "tumour of maxillary sinus" EXACT OMO:0003005 []
synonym: "tumour of maxillofacial sinus" EXACT OMO:0003005 []
synonym: "tumour of the maxillary antrum" EXACT OMO:0003005 []
synonym: "tumour of the maxillary sinus" EXACT OMO:0003005 []
synonym: "tumour of the maxillofacial sinus" EXACT OMO:0003005 []
xref: DOID:1358 {source="EFO:1001035", source="MONDO:equivalentTo"}
xref: EFO:1001035 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10026130 {source="EFO:1001035"}
xref: MEDGEN:6247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008444 {source="EFO:1001035", source="MONDO:equivalentTo", source="DOID:1358"}
xref: NCIT:C3219 {source="EFO:1001035", source="MONDO:equivalentTo", source="DOID:1358"}
xref: SCTID:126676009 {source="MONDO:equivalentTo", source="DOID:1358"}
xref: UMLS:C0024958 {source="MEDGEN:6247", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005289 {source="DOID:1358", source="EFO:1001035", source="MONDO:Redundant", source="NCIT:C3219"} ! paranasal sinus neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0006851
name: meconium aspiration syndrome
def: "A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date." [NCIT:C87093]
comment: Editor note: ORDO says this is rare, yet NCIT says 5-10% of births
subset: gard_rare {source="GARD:10494", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:70588"}
subset: orphanet_rare {source="Orphanet:70588"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aspiration syndrome, meconium" RELATED [MESH:D008471]
synonym: "aspiration, meconium" RELATED [MESH:D008471]
synonym: "MAS" EXACT ABBREVIATION [NCIT:C87093]
synonym: "meconium aspiration" EXACT [DOID:11049, MESH:D008471]
synonym: "meconium aspiration syndrome" EXACT [NCIT:C87093]
synonym: "meconium inhalation" RELATED [MESH:D008471]
synonym: "neonatal aspiration of meconium" EXACT [DOID:11049, NCIT:C87093]
synonym: "syndrome, meconium aspiration" RELATED [MESH:D008471]
xref: DOID:11049 {source="EFO:1001037", source="MONDO:equivalentTo"}
xref: EFO:1001037 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10494 {source="MONDO:GARD"}
xref: ICD10CM:P24.0 {source="DOID:11049", source="EFO:1001037", source="Orphanet:70588", source="Orphanet:70588/e"}
xref: ICD10CM:P24.00 {source="DOID:11049"}
xref: ICD10CM:P24.01 {source="DOID:11049"}
xref: icd11.foundation:872221482 {source="MONDO:equivalentTo", source="Orphanet:70588", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:770.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10027057 {source="EFO:1001037"}
xref: MEDGEN:6258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008471 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo", source="Orphanet:70588", source="Orphanet:70588/e"}
xref: NCIT:C87093 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo"}
xref: Orphanet:70588 {source="MONDO:equivalentTo"}
xref: SCTID:14608006 {source="DOID:11049"}
xref: SCTID:157110000 {source="DOID:11049"}
xref: SCTID:206292002 {source="DOID:11049", source="EFO:1001037", source="MONDO:equivalentTo"}
xref: SCTID:278927005 {source="DOID:11049"}
xref: SCTID:85779008 {source="DOID:11049"}
xref: UMLS:C0025048 {source="MEDGEN:6258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C87093"} ! syndromic disease
is_a: MONDO:0005087 {source="Orphanet:70588"} ! respiratory system disorder
is_a: MONDO:0005275 {source="DOID:11049", source="EFO:1001037", source="MESH:D008471/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! lung disorder
is_a: MONDO:0024263 ! neonatal aspiration syndrome

[Term]
id: MONDO:0006852
name: obsolete meningococcal meningitis
is_obsolete: true
replaced_by: MONDO:0018059

[Term]
id: MONDO:0006853
name: mesenchymal chondrosarcoma
def: "A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases." [NCIT:C3737]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mesenchymal chondrosarcoma" EXACT [NCIT:C3737]
xref: DOID:4545 {source="EFO:1001041", source="MONDO:equivalentTo"}
xref: EFO:1001041 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9240/3 {source="NCIT:C3737"}
xref: MedDRA:10027389 {source="EFO:1001041"}
xref: MEDGEN:104904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018211 {source="EFO:1001041", source="DOID:4545", source="MONDO:equivalentTo"}
xref: NCIT:C3737 {source="EFO:1001041", source="DOID:4545", source="MONDO:equivalentTo"}
xref: NCIT:C53493 {source="ONCOTREE:MCHS"}
xref: ONCOTREE:MCHS {source="MONDO:equivalentTo"}
xref: SCTID:56565002 {source="EFO:1001041", source="DOID:4545"}
xref: UMLS:C0206637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104904"}
is_a: MONDO:0006974 {source="NCIT:C3737"} ! small cell sarcoma
is_a: MONDO:0008977 {source="DOID:4545", source="EFO:1001041", source="MESH:D018211", source="NCIT:C3737", source="ONCOTREE:MCHS"} ! chondrosarcoma

[Term]
id: MONDO:0006854
name: mesenchymoma
def: "A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:C3233]
subset: otar {source="MONDO:OTAR"}
synonym: "mesenchymoma" EXACT [NCIT:C3233]
xref: DOID:2668 {source="EFO:1001042", source="MONDO:equivalentTo"}
xref: EFO:1001042 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8990/1 {source="NCIT:C3233"}
xref: MEDGEN:7553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008637 {source="EFO:1001042", source="MONDO:equivalentTo", source="DOID:2668"}
xref: NCIT:C3233 {source="EFO:1001042", source="MONDO:equivalentTo", source="DOID:2668"}
xref: SCTID:189809007 {source="DOID:2668"}
xref: SCTID:44524009 {source="EFO:1001042", source="DOID:2668"}
xref: UMLS:C0025464 {source="MEDGEN:7553", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="DOID:2668/inferred", source="EFO:1001042/inferred", source="MESH:D008637/inferred", source="NCIT:C3233/inferred"} ! neoplasm

[Term]
id: MONDO:0006855
name: mesenteric vascular occlusion
def: "Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" [MESH:D008641]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13252 {source="EFO:1001043", source="MONDO:equivalentTo"}
xref: EFO:1001043 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10074583 {source="EFO:1001043"}
xref: MEDGEN:9972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008641 {source="EFO:1001043", source="MONDO:equivalentTo", source="DOID:13252"}
xref: UMLS:C0025472 {source="MEDGEN:9972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005294 {source="DOID:13252", source="EFO:1001043"} ! peripheral vascular disease

[Term]
id: MONDO:0006856
name: mesothelial neoplasm
def: "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003" [NCIT:C3786]
subset: otar {source="MONDO:OTAR"}
synonym: "mesothelial neoplasm" EXACT [NCIT:C3786]
synonym: "mesothelial tumor" EXACT [NCIT:C3786]
synonym: "mesothelial tumour" EXACT OMO:0003005 []
xref: DOID:159 {source="EFO:1001044", source="MONDO:obsolete"}
xref: EFO:1001044 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C45-C49 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:811450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018301 {source="EFO:1001044", source="MONDO:equivalentTo"}
xref: NCIT:C3786 {source="EFO:1001044", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:115232000 {source="EFO:1001044"}
xref: UMLS:C3714739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811450"}
is_a: MONDO:0005070 {source="EFO:1001044", source="MESH:D018301/inferred", source="NCIT:C3786/inferred"} ! neoplasm
relationship: disease_has_location CL:0000222 {source="EFO:0000784"} ! mesodermal cell

[Term]
id: MONDO:0006857
name: middle cerebral artery infarction
def: "Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." [MESH:D020244]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3525 {source="EFO:1001045", source="MONDO:equivalentTo"}
xref: EFO:1001045 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:152845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020244 {source="EFO:1001045", source="MONDO:equivalentTo", source="DOID:3525"}
xref: UMLS:C0740392 {source="MEDGEN:152845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002679 {source="DOID:3525", source="MESH:D020244"} ! cerebral infarction
is_a: MONDO:0006693 {source="DOID:3525", source="EFO:1001045", source="MESH:D020244"} ! cerebral arterial disease

[Term]
id: MONDO:0006858
name: mouth disorder
def: "A disease involving the mouth." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of mouth" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of mouth" EXACT []
synonym: "disorder of mouth" EXACT [MONDO:patterns/location_top]
synonym: "mouth disease" EXACT [MONDO:patterns/location]
synonym: "mouth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "oral disease" EXACT [NCIT:C3240]
synonym: "oral disorder" EXACT [NCIT:C3240]
xref: DOID:403 {source="MONDO:equivalentTo", source="EFO:1001047"}
xref: EFO:1001047 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K00-K14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:528.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009059 {source="DOID:403", source="MONDO:equivalentTo", source="EFO:1001047"}
xref: NCIT:C27641 {source="DOID:403"}
xref: NCIT:C3240 {source="DOID:403", source="MONDO:equivalentTo"}
xref: SCTID:118938008 {source="DOID:403", source="MONDO:equivalentTo", source="EFO:1001047"}
xref: SCTID:155630004 {source="DOID:403"}
xref: SCTID:266484002 {source="DOID:403"}
xref: UMLS:C0026636 {source="MEDGEN:6448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0000165 ! mouth
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4968" xsd:anyURI

[Term]
id: MONDO:0006859
name: mucinous cystadenoma
def: "A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." [NCIT:C2973]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma, mucinous, benign" EXACT [NCIT:C2973]
synonym: "mucinous adenoma" EXACT [NCIT:C2973]
synonym: "mucinous cystadenoma" EXACT [NCIT:C2973]
synonym: "mucinous cystoma" EXACT [NCIT:C2973]
synonym: "pseudomucinous cystadenoma" EXACT [NCIT:C2973]
xref: DOID:2633 {source="EFO:1001048", source="MONDO:obsolete"}
xref: EFO:1001048 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8470/0 {source="NCIT:C2973"}
xref: ICDO:8480/0 {source="NCIT:C2973"}
xref: MEDGEN:8222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018291 {source="EFO:1001048", source="MONDO:equivalentTo"}
xref: NCIT:C2973 {source="EFO:1001048", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:67182003 {source="EFO:1001048"}
xref: UMLS:C0010635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8222"}
is_a: MONDO:0002369 {source="MESH:D018291", source="MONDO:Redundant", source="NCIT:C2973"} ! cystadenoma
is_a: MONDO:0004972 {source="EFO:1001048", source="MESH:D018291/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! adenoma
is_a: MONDO:0024338 {source="MONDO:Redundant", source="NCIT:C2973"} ! mucinous neoplasm
intersection_of: MONDO:0002369 {source="NCIT:C2973"} ! cystadenoma
intersection_of: MONDO:0024338 {source="NCIT:C2973"} ! mucinous neoplasm

[Term]
id: MONDO:0006860
name: obsolete mucoepidermoid tumor
is_obsolete: true
replaced_by: MONDO:0003036

[Term]
id: MONDO:0006861
name: myeloid sarcoma
def: "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="GARD:12763", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86850"}
subset: orphanet_rare {source="Orphanet:86850"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chloroma" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850]
synonym: "extramedullary myeloid tumor" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850]
synonym: "extramedullary myeloid tumour" EXACT OMO:0003005 []
synonym: "granulocytic sarcoma" RELATED [DOID:8683, NCIT:C35815, Orphanet:86850]
synonym: "MS" RELATED ABBREVIATION [ONCOTREE:MS]
synonym: "myeloid sarcoma" EXACT [MONDO:0019459, NCIT:C3520]
synonym: "sarcoma, myeloid, malignant" EXACT [NCIT:C3520]
xref: DOID:8683 {source="EFO:1001052", source="MONDO:equivalentTo"}
xref: EFO:1001052 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12763 {source="MONDO:GARD"}
xref: ICD10CM:C92.3 {source="Orphanet:86850", source="EFO:1001052", source="Orphanet:86850/ntbt", source="MONDO:equivalentTo", source="DOID:8683"}
xref: ICD10CM:C92.30 {source="DOID:8683"}
xref: icd11.foundation:1988933820 {source="Orphanet:86850", source="MONDO:equivalentTo"}
xref: ICD9:205.3 {source="EFO:1001052", source="DOID:8683"}
xref: ICDO:9930/3 {source="NCIT:C3520"}
xref: MedDRA:10028562 {source="EFO:1001052"}
xref: MEDGEN:1656669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D023981 {source="Orphanet:86850", source="EFO:1001052", source="MONDO:equivalentTo", source="Orphanet:86850/e", source="DOID:8683"}
xref: NCIT:C3520 {source="EFO:1001052", source="MONDO:equivalentTo", source="DOID:8683"}
xref: NCIT:C35815 {source="DOID:8683"}
xref: ONCOTREE:MS {source="MONDO:equivalentTo"}
xref: Orphanet:86850 {source="MONDO:equivalentTo"}
xref: SCTID:188737002 {source="DOID:8683"}
xref: SCTID:188738007 {source="DOID:8683"}
xref: SCTID:188739004 {source="DOID:8683"}
xref: SCTID:35287006 {source="DOID:8683"}
xref: SCTID:94719007 {source="EFO:1001052", source="DOID:8683"}
xref: UMLS:C4721505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1656669"}
is_a: MONDO:0005089 {source="EFO:1001052", source="MESH:D023981"} ! sarcoma
is_a: MONDO:0005170 {source="MONDO:Redundant", source="NCIT:C3520", source="ONCOTREE:MS/inferred"} ! myeloid neoplasm
is_a: MONDO:0015667 {source="Orphanet:86850"} ! acute myeloid leukemia by FAB classification
relationship: disease_has_location CL:0000763 {source="EFO:0000784"} ! myeloid cell

[Term]
id: MONDO:0006862
name: myofascial pain syndrome
def: "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome." [MESH:D009209]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:431 {source="EFO:1001054", source="MONDO:equivalentTo"}
xref: EFO:1001054 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048780 {source="EFO:1001054"}
xref: MEDGEN:6496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009209 {source="EFO:1001054", source="MONDO:equivalentTo", source="DOID:431"}
xref: SCTID:24693007 {source="EFO:1001054", source="MONDO:equivalentTo"}
xref: UMLS:C0027073 {source="MEDGEN:6496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:431", source="EFO:1001054"} ! myopathy

[Term]
id: MONDO:0006863
name: myxosarcoma
def: "An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation." [NCIT:C3255]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myxosarcoma" EXACT [NCIT:C3255]
synonym: "myxosarcoma (morphologic abnormality)" EXACT [DOID:4136]
synonym: "myxosarcoma, malignant" EXACT [NCIT:C3255]
xref: DOID:4136 {source="EFO:1001056", source="MONDO:equivalentTo"}
xref: EFO:1001056 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8840/3 {source="NCIT:C3255"}
xref: MEDGEN:6508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009236 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo"}
xref: NCIT:C3255 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:28351005 {source="DOID:4136", source="EFO:1001056"}
xref: UMLS:C0027155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6508"}
is_a: MONDO:0005089 {source="EFO:1001056", source="MESH:D009236", source="MONDO:Redundant", source="NCIT:C3255/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C3255"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:4136", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete connective tissue cancer

[Term]
id: MONDO:0006864
name: necrotizing sialometaplasia
def: "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." [MESH:D012797]
xref: DOID:12901 {source="EFO:1001057", source="MONDO:equivalentTo"}
xref: ICD10CM:K11.8 {source="DOID:12901"}
xref: ICD9:527.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10072176 {source="EFO:1001057"}
xref: MEDGEN:48659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012797 {source="EFO:1001057", source="DOID:12901", source="MONDO:equivalentTo"}
xref: SCTID:109769000 {source="EFO:1001057", source="DOID:12901", source="MONDO:equivalentTo"}
xref: UMLS:C0037033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48659"}
is_a: MONDO:0001142 {source="DOID:12901", source="MESH:D012797"} ! salivary gland disorder

[Term]
id: MONDO:0006865
name: necrotizing ulcerative gingivitis
def: "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acute membranous gingivitis" RELATED [GARD:0005736]
synonym: "acute necrotising ulcerative gingivitis" EXACT [DOID:13924]
synonym: "acute necrotising ulcerative gingivitis [ambiguous]" EXACT [DOID:13924]
synonym: "acute necrotising ulcerative gingivostomatitis" EXACT [DOID:13924]
synonym: "acute necrotising ulcerative gingivostomatitis [ambiguous]" EXACT [DOID:13924]
synonym: "acute necrotizing ulcerative gingivitis" EXACT [DOID:13924]
synonym: "acute necrotizing ulcerative gingivostomatitis" EXACT [DOID:13924]
synonym: "acute ulceromembranous gingivitis" EXACT [DOID:13924]
synonym: "angina - Vincents" EXACT [DOID:13924]
synonym: "ANUG" EXACT ABBREVIATION [DOID:13924, GARD:0005736]
synonym: "early acute necrotising gingivitis" EXACT [DOID:13924]
synonym: "Fusospirillary gingivitis" RELATED [GARD:0005736]
synonym: "Fusospirillosis" RELATED [GARD:0005736]
synonym: "phagedenic gingivitis" RELATED [GARD:0005736]
synonym: "trench mouth" EXACT [DOID:13924]
synonym: "Vincent angina" EXACT [DOID:13924]
synonym: "Vincent's angina" EXACT [DOID:13924, ICD9CM:101, NCIT:C34637, SCTID:399050001]
synonym: "Vincent's angina - pharyngitis" EXACT [DOID:13924]
synonym: "Vincent's angina NOS" RELATED EXCLUDE [DOID:13924]
synonym: "Vincent's disease" EXACT [DOID:13924]
synonym: "Vincent's gingivitis" RELATED [GARD:0005736]
synonym: "Vincent's infection" RELATED [GARD:0005736]
synonym: "Vincent's infection, any site" EXACT [DOID:13924]
synonym: "Vincent's stomatitis" RELATED [GARD:0005736]
xref: DOID:13924 {source="MONDO:equivalentTo", source="EFO:1001058"}
xref: EFO:1001058 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A69.1 {source="DOID:13924"}
xref: ICD9:101 {source="DOID:13924", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:42219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005892 {source="DOID:13924", source="MONDO:equivalentTo", source="EFO:1001058"}
xref: NCIT:C34637 {source="DOID:13924", source="MONDO:equivalentTo", source="EFO:1001058"}
xref: SCTID:154391003 {source="DOID:13924"}
xref: SCTID:171847006 {source="DOID:13924"}
xref: SCTID:172697005 {source="DOID:13924"}
xref: SCTID:173599005 {source="DOID:13924"}
xref: SCTID:186960006 {source="DOID:13924"}
xref: SCTID:186961005 {source="DOID:13924"}
xref: SCTID:186962003 {source="DOID:13924"}
xref: SCTID:186963008 {source="DOID:13924", source="MONDO:equivalentTo"}
xref: SCTID:186964002 {source="DOID:13924"}
xref: SCTID:240675006 {source="DOID:13924"}
xref: SCTID:266145002 {source="DOID:13924"}
xref: SCTID:266146001 {source="DOID:13924"}
xref: SCTID:266213004 {source="DOID:13924"}
xref: SCTID:278519005 {source="DOID:13924"}
xref: SCTID:30896000 {source="DOID:13924"}
xref: SCTID:399050001 {source="DOID:13924"}
xref: SCTID:707792000 {source="DOID:13924", source="EFO:1001058"}
xref: UMLS:C0017575 {source="MEDGEN:42219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002508 {source="DOID:13924", source="MESH:D005892", source="NCIT:C34637"} ! gingivitis

[Term]
id: MONDO:0006866
name: neonatal myasthenia gravis
def: "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" [MESH:D020941]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neonatal myasthenia gravis" EXACT [DOID:14043, ICD9CM:775.2, MTH:NOCODE]
xref: DOID:14043 {source="EFO:1001059", source="MONDO:equivalentTo"}
xref: ICD9:775.2 {source="DOID:14043", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10028963 {source="EFO:1001059"}
xref: MEDGEN:102360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020941 {source="DOID:14043", source="EFO:1001059", source="MONDO:equivalentTo"}
xref: SCTID:82178003 {source="DOID:14043", source="EFO:1001059", source="MONDO:equivalentTo"}
xref: UMLS:C0158982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102360"}
is_a: MONDO:0009688 {source="DOID:14043", source="EFO:1001059", source="MESH:D020941"} ! myasthenia gravis

[Term]
id: MONDO:0006867
name: obsolete neovascular glaucoma
is_obsolete: true
replaced_by: MONDO:0019783

[Term]
id: MONDO:0006868
name: neurogenic bowel
def: "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." [MESH:D055496]
xref: DOID:13419 {source="MONDO:equivalentTo", source="EFO:1001061"}
xref: ICD10CM:K59.2 {source="EFO:1001061"}
xref: ICD9:564.81 {source="DOID:13419", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10048657 {source="EFO:1001061"}
xref: MEDGEN:151969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055496 {source="DOID:13419", source="MONDO:equivalentTo", source="EFO:1001061"}
xref: SCTID:425671009 {source="DOID:13419", source="MONDO:equivalentTo", source="EFO:1001061"}
xref: UMLS:C0695242 {source="MEDGEN:151969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:13419", source="EFO:1001061", source="MESH:D055496/inferred"} ! intestinal disorder

[Term]
id: MONDO:0006869
name: nodular goiter
def: "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones." [NCIT:C131437]
subset: otar {source="MONDO:OTAR"}
synonym: "goiter, nodular" EXACT [DOID:13197, MTH:494, MTH:733]
synonym: "nodular goiter" EXACT [DOID:13197, MONDO:ambiguous]
synonym: "nodular goiter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nodular goiter NOS" RELATED EXCLUDE [DOID:13197]
synonym: "nodular goitre (disease)" EXACT OMO:0003005 []
synonym: "nodular goitre NOS" RELATED OMO:0003005 []
xref: DOID:13197 {source="MONDO:equivalentTo", source="EFO:1001062"}
xref: EFO:1001062 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0005994 {source="MONDO:otherHierarchy"}
xref: MedDRA:10018495 {source="EFO:1001062"}
xref: MEDGEN:42271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006044 {source="MONDO:equivalentTo", source="DOID:13197", source="EFO:1001062"}
xref: NCIT:C131437 {source="MONDO:equivalentTo"}
xref: SCTID:190236006 {source="DOID:13197"}
xref: SCTID:237570007 {source="DOID:13197"}
xref: SCTID:419153005 {source="MONDO:equivalentTo", source="DOID:13197", source="EFO:1001062"}
xref: UMLS:C0018023 {source="MEDGEN:42271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005397 {source="DOID:13197", source="EFO:1001062", source="MESH:D006044", source="NCIT:C131437"} ! goiter
property_value: IAO:0000589 "nodular goiter (disease)" xsd:string

[Term]
id: MONDO:0006870
name: obsolete noma
is_obsolete: true
replaced_by: MONDO:0017124

[Term]
id: MONDO:0006871
name: non-gestational choriocarcinoma
def: "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." [MESH:D031954]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:4320 {source="EFO:1001064", source="MONDO:equivalentTo"}
xref: EFO:1001064 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:211656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D031954 {source="EFO:1001064", source="DOID:4320", source="MONDO:equivalentTo"}
xref: UMLS:C1135873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:211656"}
is_a: MONDO:0005207 {source="DOID:4320", source="EFO:1001064", source="MESH:D031954"} ! choriocarcinoma

[Term]
id: MONDO:0006872
name: obsolete nut allergic reaction
def: "OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system." [MESH:D021184]
synonym: "022 tree nuts (tn) (ccpr) allergic disease" EXACT []
synonym: "allergy of 022 tree nuts (tn) (ccpr)" EXACT [MONDO:patterns/allergy]
synonym: "allergy to nuts" EXACT [DOID:4379]
synonym: "nut allergic reaction" EXACT [DOID:4379]
synonym: "nut allergy" RELATED [DOID:4379]
xref: DOID:4379 {source="EFO:1001066", source="MONDO:obsoleteEquivalent"}
xref: MESH:D021184 {source="EFO:1001066", source="MONDO:obsoleteEquivalent", source="DOID:4379"}
xref: SCTID:395654004 {source="DOID:4379"}
xref: SCTID:91934008 {source="MONDO:obsoleteEquivalent", source="DOID:4379"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0006873
name: nutritional deficiency disease
def: "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)" [MESH:D003677]
subset: otar {source="MONDO:OTAR"}
synonym: "malnourished" EXACT [NCIT:C3669]
synonym: "malnutrition" EXACT []
xref: DOID:5113 {source="EFO:1001067", source="MONDO:equivalentTo"}
xref: EFO:1001067 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E40-E46 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:E50-E64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:269.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:269.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10046058 {source="EFO:1001067"}
xref: MEDGEN:1677627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003677 {source="DOID:5113", source="EFO:1001067", source="MONDO:equivalentTo"}
xref: NCIT:C3669 {source="MONDO:equivalentTo"}
xref: SCTID:363246002 {source="MONDO:equivalentTo"}
xref: SCTID:70241007 {source="EFO:1001067", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C4761312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677627"}
is_a: MONDO:0005137 {source="DOID:5113", source="EFO:1001067", source="MESH:D003677/inferred", source="NCIT:C3669"} ! nutritional disorder

[Term]
id: MONDO:0006874
name: obstructive jaundice
def: "A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cholestatic jaundice" EXACT [DOID:13603, NCIT:C34742]
synonym: "cholestatic jaundice syndrome" EXACT [DOID:13603]
synonym: "obstructive hyperbilirubinemia" EXACT [DOID:13603, MTH:U000257]
synonym: "obstructive jaundice NOS" RELATED EXCLUDE [DOID:13603]
xref: DOID:13603 {source="EFO:1001068", source="MONDO:equivalentTo"}
xref: EFO:1001068 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10029982 {source="EFO:1001068"}
xref: MEDGEN:43988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D041781 {source="DOID:13603", source="EFO:1001068", source="MONDO:equivalentTo"}
xref: NCIT:C34742 {source="DOID:13603", source="EFO:1001068", source="MONDO:otherHierarchy"}
xref: SCTID:155832005 {source="DOID:13603"}
xref: SCTID:197452009 {source="DOID:13603"}
xref: SCTID:266545005 {source="DOID:13603"}
xref: SCTID:44018007 {source="DOID:13603", source="MONDO:equivalentTo"}
xref: SCTID:59848001 {source="DOID:13603"}
xref: UMLS:C0022354 {source="MEDGEN:43988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001751 {source="DOID:13603"} ! cholestasis
is_a: MONDO:0006322 {source="EFO:1001068"} ! non-neoplastic bile duct disorder

[Term]
id: MONDO:0006875
name: ocular hypertension
def: "Abnormally high intraocular pressure." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9282 {source="MONDO:equivalentTo", source="EFO:1001069"}
xref: EFO:1001069 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H40.05 {source="DOID:9282"}
xref: ICD9:365.04 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069", source="MONDO:i2s"}
xref: MedDRA:10030043 {source="EFO:1001069"}
xref: MEDGEN:10423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009798 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069"}
xref: NCIT:C3285 {source="MONDO:otherHierarchy", source="DOID:9282", source="EFO:1001069"}
xref: SCTID:155121008 {source="DOID:9282"}
xref: SCTID:193536008 {source="DOID:9282"}
xref: SCTID:267721003 {source="DOID:9282"}
xref: SCTID:4210003 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069"}
xref: UMLS:C0028840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10423"}
is_a: MONDO:0005044 {source="EFO:1001069"} ! hypertensive disorder
is_a: MONDO:0005328 {source="DOID:9282", source="MESH:D009798"} ! eye disorder

[Term]
id: MONDO:0006876
name: ocular tuberculosis
def: "Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." [MESH:D014392]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0070344 {source="MONDO:equivalentTo"}
xref: DOID:233 {source="MONDO:obsolete", source="EFO:1001070"}
xref: EFO:1001070 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:017.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:017.32 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:52887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014392 {source="MONDO:equivalentTo", source="EFO:1001070"}
xref: SCTID:49107007 {source="MONDO:equivalentTo", source="EFO:1001070"}
xref: UMLS:C0041322 {source="MEDGEN:52887", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0000970 ! eye
relationship: excluded_subClassOf MONDO:0018076 {source="EFO:1001070", source="MESH:D014392", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4143" xsd:anyURI

[Term]
id: MONDO:0006877
name: oophoritis
def: "Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix." [MESH:D009869]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of ovary" EXACT []
synonym: "ovary inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:10974 {source="MONDO:equivalentTo", source="EFO:1001071"}
xref: EFO:1001071 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N70.92 {source="DOID:10974"}
xref: MedDRA:10030345 {source="EFO:1001071"}
xref: MEDGEN:14486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009869 {source="DOID:10974", source="MONDO:equivalentTo", source="EFO:1001071"}
xref: SCTID:155968004 {source="DOID:10974"}
xref: SCTID:198148002 {source="DOID:10974"}
xref: SCTID:266648001 {source="DOID:10974"}
xref: SCTID:76047005 {source="DOID:10974", source="MONDO:equivalentTo", source="EFO:1001071"}
xref: UMLS:C0029051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14486"}
is_a: MONDO:0005558 {source="DOID:10974", source="EFO:1001071", source="MESH:D009869", source="MONDO:Redundant"} ! ovarian disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000992 ! ovary

[Term]
id: MONDO:0006878
name: Moraxellaceae infectious disease
def: "Infections with bacteria of the family moraxellaceae." [MESH:D045828]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, Moraxella" RELATED [MESH:D045828]
synonym: "infection, Moraxellaceae" RELATED [MESH:D045828]
synonym: "infection, Psychobacter" RELATED [MESH:D045828]
synonym: "infections, Moraxella" RELATED [MESH:D045828]
synonym: "infections, Moraxellaceae" RELATED [MESH:D045828]
synonym: "infections, Psychobacter" RELATED [MESH:D045828]
synonym: "Moraxella infection" RELATED [MESH:D045828]
synonym: "Moraxella infections" RELATED [MESH:D045828]
synonym: "Moraxellaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Moraxellaceae disease or disorder" EXACT []
synonym: "Moraxellaceae infection" RELATED [MESH:D045828]
synonym: "Psychobacter infection" RELATED [MESH:D045828]
synonym: "Psychobacter infections" RELATED [MESH:D045828]
xref: DOID:3092 {source="MONDO:obsolete", source="EFO:1001072"}
xref: EFO:1001072 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D045828 {source="MONDO:equivalentTo", source="EFO:1001072"}
is_a: MONDO:0005113 {source="EFO:1001072", source="MESH:D045828/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D045828"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:468 ! Moraxellaceae

[Term]
id: MONDO:0006879
name: optic papillitis
def: "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" [MESH:D010211]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Choked disc" EXACT OMO:0003005 []
synonym: "Choked discs" EXACT OMO:0003005 []
synonym: "Choked disk" EXACT [GARD:0007318, MESH:D010211]
synonym: "Choked disks" EXACT [MESH:D010211]
synonym: "decreased intraocular pressure associated papilledema" EXACT [MESH:D010211]
synonym: "decreased intraocular pressure-associated papilledema" EXACT [MESH:D010211]
synonym: "disk, Choked" EXACT [MESH:D010211]
synonym: "disks, Choked" EXACT [MESH:D010211]
synonym: "edema of the optic disk" EXACT [GARD:0007318, MESH:D010211]
synonym: "edema, optic disc" EXACT OMO:0003005 []
synonym: "edema, optic disk" EXACT [MESH:D010211]
synonym: "edema, optic papilla" EXACT [MESH:D010211]
synonym: "edema, retinal" RELATED [MESH:D010211]
synonym: "Edemas, optic disc" EXACT OMO:0003005 []
synonym: "Edemas, optic disk" EXACT [MESH:D010211]
synonym: "Edemas, retinal" RELATED [MESH:D010211]
synonym: "increased intracranial pressure associated papilledema" EXACT [MESH:D010211]
synonym: "increased intracranial pressure-associated papilledema" EXACT [MESH:D010211]
synonym: "inflammation of optic disc" EXACT OMO:0003005 []
synonym: "inflammation of optic disk" EXACT []
synonym: "oedema of the optic disc" EXACT OMO:0003005 []
synonym: "optic disc inflammation" EXACT OMO:0003005 []
synonym: "optic disc oedema" EXACT OMO:0003005 []
synonym: "optic discitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "optic disk edema" EXACT [MESH:D010211]
synonym: "optic disk inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "optic nerve papillitis" EXACT [MESH:D010211]
synonym: "optic papilla edema" EXACT [MESH:D010211]
synonym: "optic papilla oedema" EXACT OMO:0003005 []
synonym: "optic papillitis" EXACT [MESH:D010211]
synonym: "papilledema" EXACT [MONDO:0002003]
synonym: "papilledema associated with decreased intraocular pressure" EXACT [MESH:D010211]
synonym: "papilledema associated with increased intracranial pressure" EXACT [MESH:D010211]
synonym: "papillitis" EXACT [DOID:10175, MESH:D010211]
synonym: "papillitis, optic" EXACT [MESH:D010211]
synonym: "papillitis, optic nerve" EXACT [MESH:D010211]
synonym: "papilloedema" EXACT [NCIT:C3307]
synonym: "retinal edema" RELATED [MESH:D010211]
synonym: "retinal Edemas" RELATED [MESH:D010211]
synonym: "retinal oedema" RELATED OMO:0003005 []
xref: DOID:10175 {source="EFO:1001074", source="MONDO:equivalentTo"}
xref: DOID:146 {source="MONDO:relatedTo"}
xref: EFO:1001074 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H35.81 {source="DOID:10175"}
xref: ICD10CM:H46.0 {source="EFO:1001074", source="DOID:10175", source="DOID:146"}
xref: ICD10CM:H47.1 {source="DOID:10175", source="DOID:146"}
xref: ICD10CM:H47.10 {source="DOID:10175", source="DOID:146"}
xref: ICD10CM:H47.11 {source="DOID:10175"}
xref: ICD9:362.83 {source="DOID:10175", source="MONDO:directSiblingOf"}
xref: ICD9:377.0 {source="DOID:10175", source="DOID:146"}
xref: ICD9:377.00 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:146"}
xref: ICD9:377.01 {source="DOID:10175"}
xref: ICD9:377.31 {source="EFO:1001074", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10175"}
xref: MedDRA:10030948 {source="EFO:1001074"}
xref: MESH:D010211 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:1001074", source="MONDO:equivalentTo", source="DOID:10175", source="DOID:146"}
xref: NCIT:C3307 {source="MONDO:otherHierarchy", source="DOID:10175", source="MONDO:exact-label-match", source="DOID:146"}
xref: SCTID:111526001 {source="DOID:10175", source="DOID:146"}
xref: SCTID:155187009 {source="DOID:10175", source="DOID:146"}
xref: SCTID:193426002 {source="DOID:10175"}
xref: SCTID:194038006 {source="DOID:10175", source="DOID:146"}
xref: SCTID:194041002 {source="DOID:10175", source="DOID:146"}
xref: SCTID:248487006 {source="DOID:10175", source="DOID:146"}
xref: SCTID:3170006 {source="DOID:10175"}
xref: SCTID:423341008 {source="MONDO:relatedTo", source="DOID:146"}
xref: SCTID:423488006 {source="DOID:10175", source="DOID:146"}
xref: SCTID:6141006 {source="DOID:10175", source="MONDO:directSiblingOf"}
xref: SCTID:73221001 {source="EFO:1001074", source="MONDO:equivalentTo", source="DOID:10175"}
is_a: MONDO:0002135 {source="DOID:146", source="MESH:D010211"} ! optic nerve disorder
is_a: MONDO:0005283 {source="MONDO:Redundant"} ! retinal disorder
is_a: MONDO:0005885 {source="DOID:10175"} ! optic neuritis
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001783 ! optic disc
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7279" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7318/papilledema" xsd:anyURI {source="GARD:0007318"}

[Term]
id: MONDO:0006880
name: oral leukoedema
def: "A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)" [MESH:D007967]
synonym: "leukedema of mouth" EXACT [DOID:4557]
xref: DOID:4557 {source="EFO:1001075", source="MONDO:equivalentTo"}
xref: ICD9:528.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10057365 {source="EFO:1001075"}
xref: MEDGEN:44132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007967 {source="EFO:1001075", source="MONDO:equivalentTo", source="DOID:4557"}
xref: SCTID:67795000 {source="EFO:1001075", source="MONDO:equivalentTo", source="DOID:4557"}
xref: UMLS:C0023523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44132"}
is_a: MONDO:0006858 {source="DOID:4557", source="EFO:1001075", source="MESH:D007967"} ! mouth disorder

[Term]
id: MONDO:0006881
name: orbital cellulitis
def: "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "orbital cellulitis" EXACT [DOID:11234]
xref: DOID:11234 {source="EFO:1001076", source="MONDO:equivalentTo"}
xref: EFO:1001076 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H05.01 {source="DOID:11234"}
xref: ICD9:376.01 {source="EFO:1001076", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11234"}
xref: MedDRA:10031036 {source="EFO:1001076"}
xref: MEDGEN:57681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054517 {source="EFO:1001076", source="MONDO:equivalentTo", source="DOID:11234"}
xref: NCIT:C99000 {source="EFO:1001076", source="MONDO:equivalentTo", source="DOID:11234"}
xref: SCTID:194005002 {source="EFO:1001076", source="MONDO:equivalentTo", source="DOID:11234"}
xref: UMLS:C0149507 {source="MONDO:equivalentTo", source="MEDGEN:57681", source="MONDO:MEDGEN"}
is_a: MONDO:0001230 {source="DOID:11234"} ! acute orbital inflammation
is_a: MONDO:0005230 {source="EFO:1001076", source="MESH:D054517", source="NCIT:C99000"} ! cellulitis

[Term]
id: MONDO:0006882
name: orchitis
def: "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Inflammation of testis" EXACT [DOID:2518]
synonym: "inflammation of testis" EXACT []
synonym: "orchitis" EXACT [MONDO:ambiguous]
synonym: "orchitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Orchititis" EXACT [DOID:2518]
synonym: "testis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "testisitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2518 {source="EFO:1001078", source="MONDO:equivalentTo"}
xref: EFO:1001078 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100796 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N45.2 {source="MONDO:equivalentTo", source="DOID:2518"}
xref: MedDRA:10031064 {source="EFO:1001078"}
xref: MEDGEN:18191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009920 {source="EFO:1001078", source="MONDO:equivalentTo", source="DOID:2518"}
xref: NCIT:C97145 {source="EFO:1001078", source="MONDO:equivalentTo", source="DOID:2518"}
xref: SCTID:197984006 {source="DOID:2518"}
xref: SCTID:197987004 {source="DOID:2518"}
xref: SCTID:197990005 {source="DOID:2518"}
xref: SCTID:274718005 {source="EFO:1001078", source="MONDO:equivalentTo", source="DOID:2518"}
xref: SCTID:29077001 {source="DOID:2518"}
xref: SCTID:297229006 {source="DOID:2518"}
xref: SCTID:367112009 {source="DOID:2518"}
xref: UMLS:C0029191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18191"}
is_a: MONDO:0002329 {source="DOID:2518", source="MESH:D009920", source="MONDO:Redundant", source="NCIT:C97145/inferred"} ! testicular disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000473 ! testis
property_value: IAO:0000589 "orchitis (disease)" xsd:string

[Term]
id: MONDO:0006883
name: malignant superior sulcus neoplasm
def: "A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." [NCIT:C7527]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant pulmonary sulcus neoplasm" EXACT []
synonym: "malignant Superior sulcus lung neoplasm" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus lung tumor" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus lung tumour" EXACT OMO:0003005 []
synonym: "malignant Superior sulcus neoplasm" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus neoplasm of lung" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus neoplasm of the lung" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus tumor" EXACT [DOID:8007, NCIT:C7527]
synonym: "malignant Superior sulcus tumor of lung" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus tumor of the lung" EXACT [NCIT:C7527]
synonym: "malignant Superior sulcus tumour" EXACT OMO:0003005 []
synonym: "malignant Superior sulcus tumour of lung" EXACT OMO:0003005 []
synonym: "malignant Superior sulcus tumour of the lung" EXACT OMO:0003005 []
synonym: "Pancoast tumor" EXACT [NCIT:C7527]
synonym: "Pancoast tumour" EXACT OMO:0003005 []
synonym: "Pancoast's syndrome" RELATED [DOID:8007]
synonym: "Pancoast's tumor" EXACT [DOID:8007, NCIT:C7527]
synonym: "Pancoast's tumour" EXACT OMO:0003005 []
synonym: "pulmonary sulcus neoplasm, malignant" EXACT [MONDO:patterns/malignant]
synonym: "pulmonary sulcus tumor" RELATED EXCLUDE [DOID:8007]
synonym: "pulmonary sulcus tumour" RELATED OMO:0003005 []
synonym: "superior pulmonary sulcus syndrome" EXACT [DOID:8007]
synonym: "superior pulmonary sulcus syndrome (disorder) [ambiguous]" RELATED [DOID:8007]
synonym: "superior sulcus tumor" RELATED []
synonym: "superior sulcus tumour" RELATED OMO:0003005 []
xref: DOID:8007 {source="MONDO:equivalentTo", source="EFO:1001080"}
xref: EFO:1001080 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:107810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010178 {source="DOID:8007", source="MONDO:relatedTo", source="EFO:1001080"}
xref: NCIT:C27710 {source="DOID:8007"}
xref: NCIT:C55815 {source="DOID:8007", source="MONDO:relatedTo"}
xref: NCIT:C7527 {source="DOID:8007", source="MONDO:equivalentTo"}
xref: SCTID:154486000 {source="DOID:8007"}
xref: SCTID:187860004 {source="DOID:8007"}
xref: SCTID:254638002 {source="DOID:8007", source="MONDO:equivalentTo", source="EFO:1001080"}
xref: SCTID:269562004 {source="DOID:8007"}
xref: SCTID:278065000 {source="DOID:8007", source="MONDO:relatedTo"}
xref: SCTID:80367008 {source="DOID:8007"}
xref: UMLS:C0549471 {source="MEDGEN:107810", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008903 {source="DOID:8007", source="MONDO:Redundant", source="NCIT:C7527"} ! lung cancer
is_a: MONDO:0024813 {source="MONDO:Redundant", source="NCIT:C7527"} ! pulmonary sulcus neoplasm
intersection_of: MONDO:0024813 ! pulmonary sulcus neoplasm
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: excluded_subClassOf MONDO:0005138 {source="EFO:1001080", source="https://orcid.org/0000-0001-5208-3432"} ! lung carcinoma

[Term]
id: MONDO:0006884
name: panophthalmitis
def: "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." [MESH:D010202]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:13732 {source="MONDO:equivalentTo", source="EFO:1001081"}
xref: ICD9:360.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13732"}
xref: MedDRA:10033683 {source="EFO:1001081"}
xref: MEDGEN:10561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010202 {source="MONDO:equivalentTo", source="EFO:1001081", source="DOID:13732"}
xref: SCTID:33382000 {source="MONDO:equivalentTo", source="EFO:1001081", source="DOID:13732"}
xref: UMLS:C0030332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10561"}
is_a: MONDO:0001718 {source="DOID:13732"} ! scleritis
is_a: MONDO:0004863 {source="DOID:13732"} ! purulent endophthalmitis

[Term]
id: MONDO:0006885
name: obsolete MONDO:0006885
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017255

[Term]
id: MONDO:0006886
name: thyroid gland papillary and follicular carcinoma
def: "A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" [MESH:D018265]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "papillary and follicular adenocarcinoma" EXACT [NCIT:C7380]
synonym: "papillary and follicular carcinoma" EXACT [NCIT:C7380]
synonym: "papillary follicular thyroid adenocarcinoma" RELATED [DOID:3968]
synonym: "thyroid gland papillary and follicular carcinoma" EXACT [NCIT:C7380]
xref: DOID:3968 {source="MONDO:equivalentTo", source="EFO:1001083"}
xref: EFO:1001083 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:64631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018265 {source="MONDO:equivalentTo", source="DOID:3968", source="EFO:1001083"}
xref: NCIT:C7380 {source="MONDO:equivalentTo", source="DOID:3968"}
xref: SCTID:189643000 {source="DOID:3968", source="EFO:1001083"}
xref: SCTID:21968007 {source="DOID:3968"}
xref: UMLS:C0206683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64631"}
is_a: MONDO:0002512 {source="MESH:D018265", source="MONDO:indirect"} ! papillary adenocarcinoma
is_a: MONDO:0005034 {source="MESH:D018265"} ! thyroid gland follicular carcinoma
is_a: MONDO:0005075 {source="DOID:3968", source="EFO:1001083", source="MONDO:Redundant"} ! thyroid gland papillary carcinoma

[Term]
id: MONDO:0006887
name: parametritis
def: "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament." [MESH:D010249]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of parametrium" EXACT []
synonym: "parametrium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pelvic cellulitis" EXACT [DOID:1260]
xref: DOID:1260 {source="MONDO:equivalentTo", source="EFO:1001084"}
xref: EFO:1001084 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:18295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010249 {source="MONDO:equivalentTo", source="EFO:1001084", source="DOID:1260"}
xref: SCTID:198164005 {source="DOID:1260"}
xref: SCTID:198165006 {source="DOID:1260"}
xref: SCTID:280483007 {source="MONDO:equivalentTo", source="DOID:1260"}
xref: SCTID:37518008 {source="DOID:1260"}
xref: UMLS:C0030455 {source="MEDGEN:18295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000922 {source="DOID:1260", source="MESH:D010249"} ! pelvic inflammatory disease
is_a: MONDO:0021166 {source="MONDO:Entailed"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0010391 ! parametrium

[Term]
id: MONDO:0006888
name: paraneoplastic polyneuropathy
def: "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." [NCIT:C3981]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "paraneoplastic polyneuropathy" EXACT [NCIT:C3981]
xref: DOID:8681 {source="EFO:1001085", source="MONDO:equivalentTo"}
xref: ICD9:357.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8681"}
xref: MedDRA:10062289 {source="EFO:1001085"}
xref: MEDGEN:124380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020364 {source="EFO:1001085", source="MONDO:equivalentTo", source="DOID:8681"}
xref: NCIT:C3981 {source="EFO:1001085", source="MONDO:equivalentTo", source="NCIT:C3981", source="DOID:8681"}
xref: SCTID:21361000119109 {source="DOID:8681"}
xref: SCTID:77659000 {source="MONDO:equivalentTo", source="DOID:8681"}
xref: UMLS:C0270932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124380"}
is_a: MONDO:0001824 {source="MESH:D020364", source="MONDO:Redundant", source="NCIT:C3981"} ! polyneuropathy
intersection_of: MONDO:0001824 ! polyneuropathy
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
relationship: excluded_subClassOf MONDO:0002336 {source="DOID:8681", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inflammatory and toxic neuropathy

[Term]
id: MONDO:0006889
name: paraphimosis
def: "A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:5334 {source="EFO:1001086", source="MONDO:equivalentTo"}
xref: EFO:1001086 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N47.2 {source="DOID:5334", source="MONDO:equivalentTo"}
xref: MedDRA:10033890 {source="EFO:1001086"}
xref: MEDGEN:14611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010263 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo"}
xref: NCIT:C34893 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo"}
xref: SCTID:13758004 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo"}
xref: SCTID:155922002 {source="DOID:5334"}
xref: UMLS:C0030483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14611"}
is_a: MONDO:0006904 {source="DOID:5334", source="MESH:D010263"} ! phimosis

[Term]
id: MONDO:0006890
name: parathyroid gland adenoma
def: "A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent." [NCIT:C3916]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of parathyroid" EXACT [DOID:7608, NCIT:C3916]
synonym: "adenoma of parathyroid gland" EXACT [NCIT:C3916]
synonym: "adenoma of the parathyroid" EXACT [NCIT:C3916]
synonym: "adenoma of the parathyroid gland" EXACT [DOID:7608, NCIT:C3916]
synonym: "parathyroid adenoma" EXACT [MONDO:ambiguous, NCIT:C3916]
synonym: "parathyroid gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3916]
xref: DOID:7608 {source="EFO:1001087", source="MONDO:equivalentTo"}
xref: EFO:1001087 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002897 {source="MONDO:otherHierarchy"}
xref: MedDRA:10033940 {source="EFO:1001087"}
xref: MEDGEN:75502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010282 {source="EFO:1001087", source="DOID:7608"}
xref: NCIT:C156757 {source="MONDO:equivalentTo"}
xref: NCIT:C3916 {source="MONDO:equivalentObsolete", source="DOID:7608"}
xref: SCTID:128474007 {source="EFO:1001087", source="MONDO:equivalentTo", source="DOID:7608"}
xref: UMLS:C0262587 {source="MEDGEN:75502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000627 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916"} ! benign endocrine neoplasm
is_a: MONDO:0001223 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916/inferred"} ! parathyroid gland disorder
is_a: MONDO:0004972 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916"} ! adenoma
is_a: MONDO:0021463 {source="MONDO:Redundant", source="NCIT:C3916"} ! benign neoplasm of parathyroid gland
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland

[Term]
id: MONDO:0006891
name: partial motor epilepsy
def: "A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "epilepsy, focal motor" EXACT [DOID:3327]
synonym: "epilepsy, focal motor NOS" RELATED EXCLUDE [DOID:3327]
synonym: "focal motor seizure" EXACT [DOID:3327]
synonym: "focal motor seizure, NOS" RELATED EXCLUDE [DOID:3327]
xref: DOID:3327 {source="EFO:1001089", source="MONDO:equivalentTo"}
xref: EFO:1001089 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:780.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020938 {source="EFO:1001089", source="MONDO:equivalentTo", source="DOID:3327"}
xref: NCIT:C50847 {source="MONDO:otherHierarchy", source="DOID:3327"}
xref: SCTID:128612007 {source="MONDO:equivalentTo", source="DOID:3327"}
xref: SCTID:67139004 {source="DOID:3327"}
xref: SCTID:82401000 {source="DOID:3327"}
xref: UMLS:C0016399 {source="MONDO:equivalentTo", source="MEDGEN:5237", source="MONDO:MEDGEN"}
is_a: MONDO:0005384 {source="DOID:3327", source="EFO:1001089", source="MESH:D020938"} ! focal epilepsy

[Term]
id: MONDO:0006892
name: partial sensory epilepsy
def: "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial)." [MESH:D020937]
xref: DOID:3330 {source="MONDO:equivalentTo", source="EFO:1001090"}
xref: MEDGEN:107460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020937 {source="DOID:3330", source="MONDO:equivalentTo", source="EFO:1001090"}
xref: UMLS:C0544645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107460"}
is_a: MONDO:0005384 {source="DOID:3330", source="EFO:1001090", source="MESH:D020937"} ! focal epilepsy

[Term]
id: MONDO:0006893
name: Pasteurella hemorrhagic septicemia
def: "Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." [MESH:D006483]
subset: otar {source="MONDO:OTAR"}
synonym: "bacteremia, haemorrhagic" RELATED [MESH:D006483]
synonym: "bacteremia, hemorrhagic" RELATED [MESH:D006483]
synonym: "haemorrhagic bacteremia" RELATED [MESH:D006483]
synonym: "haemorrhagic Septicaemia" RELATED [MESH:D006483]
synonym: "haemorrhagic septicemia" RELATED [MESH:D006483]
synonym: "hemorrhagic bacteremia" RELATED [MESH:D006483]
synonym: "hemorrhagic Septicaemia" RELATED [MESH:D006483]
synonym: "Septicaemia, haemorrhagic" RELATED [MESH:D006483]
synonym: "Septicaemia, hemorrhagic" RELATED [MESH:D006483]
synonym: "septicemia, haemorrhagic" RELATED [MESH:D006483]
synonym: "septicemia, hemorrhagic" RELATED [MESH:D006483]
xref: DOID:11056 {source="EFO:1001091", source="MONDO:obsolete"}
xref: EFO:1001091 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D006483 {source="MONDO:equivalentTo", source="EFO:1001091"}
xref: SCTID:198462004 {source="MONDO:equivalentTo", source="EFO:1001091"}
is_a: MONDO:0005113 {source="EFO:1001091", source="MESH:D006483/inferred", source="MONDO:0006893/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0005901 {source="MESH:D006483", source="MONDO:Entailed"} ! pasteurellosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_feature HP:0100806 ! Sepsis
intersection_of: disease_has_infectious_agent NCBITaxon:747 ! Pasteurella multocida

[Term]
id: MONDO:0006894
name: patellofemoral pain syndrome
def: "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." [MESH:D046788]
subset: otar {source="MONDO:OTAR"}
xref: DOID:14284 {source="MONDO:equivalentTo", source="EFO:1001092"}
xref: EFO:1001092 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10049143 {source="EFO:1001092"}
xref: MEDGEN:164080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046788 {source="MONDO:equivalentTo", source="DOID:14284", source="EFO:1001092"}
xref: SCTID:430725003 {source="MONDO:equivalentTo", source="EFO:1001092"}
xref: UMLS:C0877149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164080"}
is_a: MONDO:0006816 {source="DOID:14284", source="EFO:1001092", source="MESH:D046788"} ! arthropathy
relationship: disease_has_location UBERON:0011166 ! patellofemoral joint

[Term]
id: MONDO:0006895
name: penile neoplasm
def: "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma." [NCIT:C3317]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of penis" EXACT [MONDO:patterns/neoplasm, NCIT:C3317]
synonym: "neoplasm of the penis" EXACT [NCIT:C3317]
synonym: "penile neoplasm" EXACT [NCIT:C3317]
synonym: "penile neoplasms" EXACT [NCIT:C3317]
synonym: "penile tumor" EXACT [DOID:11624, NCIT:C3317]
synonym: "penile tumour" EXACT OMO:0003005 []
synonym: "penis neoplasm" EXACT []
synonym: "penis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "penis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "penis tumour" EXACT OMO:0003005 []
synonym: "tumor of penis" EXACT [MONDO:patterns/neoplasm, NCIT:C3317]
synonym: "tumor of the penis" EXACT [NCIT:C3317]
synonym: "tumour of penis" EXACT OMO:0003005 []
synonym: "tumour of the penis" EXACT OMO:0003005 []
xref: DOID:11624 {source="MONDO:equivalentTo", source="EFO:1001094"}
xref: EFO:1001094 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10061913 {source="EFO:1001094"}
xref: MEDGEN:14656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010412 {source="DOID:11624", source="MONDO:equivalentTo", source="EFO:1001094"}
xref: NCIT:C12409 {source="ONCOTREE:PENIS"}
xref: NCIT:C3317 {source="DOID:11624", source="MONDO:equivalentTo", source="EFO:1001094"}
xref: ONCOTREE:PENIS {source="MONDO:equivalentTo"}
xref: SCTID:126896003 {source="DOID:11624", source="MONDO:equivalentTo"}
xref: UMLS:C0030849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14656"}
is_a: MONDO:0002036 {source="DOID:11624", source="MESH:D010412", source="MONDO:Redundant", source="NCIT:C3317"} ! penile disorder
is_a: MONDO:0006054 {source="EFO:1001094", source="MONDO:Entailed", source="NCIT:C3317/inferred"} ! reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0006896
name: peptic esophagitis
def: "Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum." [MESH:D004942]
subset: otar {source="MONDO:OTAR"}
synonym: "peptic esophagitis" EXACT [DOID:13976]
synonym: "peptic reflux disease" EXACT [DOID:13976]
synonym: "reflux esophagitis" EXACT [DOID:13976]
synonym: "reflux oesophagitis" EXACT [DOID:13976]
xref: DOID:13976 {source="MONDO:equivalentTo", source="EFO:1001095"}
xref: EFO:1001095 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:530.11 {source="DOID:13976"}
xref: MEDGEN:5028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004942 {source="DOID:13976", source="MONDO:equivalentTo", source="EFO:1001095"}
xref: SCTID:155673008 {source="DOID:13976"}
xref: SCTID:196600005 {source="DOID:13976"}
xref: SCTID:266498005 {source="DOID:13976"}
xref: SCTID:54856001 {source="DOID:13976"}
xref: SCTID:57643001 {source="DOID:13976", source="MONDO:equivalentTo", source="EFO:1001095"}
xref: UMLS:C0014869 {source="MONDO:equivalentTo", source="MEDGEN:5028", source="MONDO:MEDGEN"}
is_a: MONDO:0001409 {source="DOID:13976", source="MESH:D004942"} ! esophagitis
is_a: MONDO:0004247 {source="DOID:13976", source="MESH:D004942"} ! peptic ulcer disease

[Term]
id: MONDO:0006897
name: periapical granuloma
def: "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." [MESH:D010484]
subset: otar {source="MONDO:OTAR"}
synonym: "apical granuloma" EXACT [DOID:4617]
synonym: "periapical granuloma" EXACT [DOID:4617]
xref: DOID:4617 {source="EFO:1001096", source="MONDO:equivalentTo"}
xref: EFO:1001096 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10060985 {source="EFO:1001096"}
xref: MEDGEN:45395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010484 {source="EFO:1001096", source="MONDO:equivalentTo", source="DOID:4617"}
xref: SCTID:196344002 {source="DOID:4617"}
xref: SCTID:81407003 {source="MONDO:equivalentTo", source="DOID:4617"}
xref: UMLS:C0031029 {source="MEDGEN:45395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004508 {source="DOID:4617", source="MESH:D010484"} ! periapical periodontitis

[Term]
id: MONDO:0006898
name: periarthritis
def: "Inflammation of the tissues around a joint. (Dorland, 27th ed)" [MESH:D010489]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2964 {source="EFO:1001097", source="MONDO:equivalentTo"}
xref: EFO:1001097 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M77.9 {source="DOID:2964"}
xref: MedDRA:10034464 {source="EFO:1001097"}
xref: MEDGEN:45397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010489 {source="EFO:1001097", source="MONDO:equivalentTo", source="DOID:2964"}
xref: SCTID:156665008 {source="DOID:2964"}
xref: SCTID:202892006 {source="DOID:2964"}
xref: SCTID:268091003 {source="DOID:2964"}
xref: SCTID:50921008 {source="EFO:1001097", source="MONDO:equivalentTo", source="DOID:2964"}
xref: UMLS:C0031037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45397"}
is_a: MONDO:0002471 {source="DOID:2964", source="MESH:D010489"} ! bursitis
is_a: MONDO:0005578 {source="EFO:1001097", source="MESH:D010489"} ! arthritic joint disease

[Term]
id: MONDO:0006899
name: pericoronitis
def: "Inflammation of the gingiva surrounding the crown of a tooth." [MESH:D010497]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3671 {source="EFO:1001098", source="MONDO:equivalentTo"}
xref: EFO:1001098 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10034504 {source="EFO:1001098"}
xref: MEDGEN:45399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010497 {source="DOID:3671", source="EFO:1001098", source="MONDO:equivalentTo"}
xref: SCTID:22240003 {source="DOID:3671", source="EFO:1001098", source="MONDO:equivalentTo"}
xref: UMLS:C0031055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45399"}
is_a: MONDO:0002021 {source="DOID:3671", source="MESH:D010497"} ! gingival disorder
is_a: MONDO:0005076 {source="EFO:1001098"} ! periodontitis

[Term]
id: MONDO:0006900
name: perinephritis
def: "Inflammation of the connective and adipose tissues surrounding the kidney." [MESH:D010501]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of perirenal fat" EXACT []
synonym: "perirenal fat inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2982 {source="EFO:1001099", source="MONDO:equivalentTo"}
xref: EFO:1001099 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10072058 {source="EFO:1001099"}
xref: MEDGEN:10656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010501 {source="EFO:1001099", source="DOID:2982", source="MONDO:equivalentTo"}
xref: SCTID:111404004 {source="EFO:1001099", source="DOID:2982", source="MONDO:equivalentTo"}
xref: UMLS:C0031065 {source="MEDGEN:10656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:2982", source="EFO:1001099", source="MESH:D010501"} ! kidney disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0005406 ! perirenal fat

[Term]
id: MONDO:0006901
name: peritoneal neoplasm
def: "A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." [NCIT:C3322]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of peritoneum" EXACT [MONDO:patterns/neoplasm]
synonym: "peritoneal neoplasm" EXACT [NCIT:C3322]
synonym: "peritoneum neoplasm" EXACT []
synonym: "peritoneum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "peritoneum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "peritoneum tumour" EXACT OMO:0003005 []
synonym: "tumor of peritoneum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of peritoneum" EXACT OMO:0003005 []
xref: DOID:4884 {source="EFO:1001100", source="MONDO:obsolete"}
xref: EFO:1001100 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10061344 {source="EFO:1001100"}
xref: MEDGEN:18392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010534 {source="EFO:1001100", source="MONDO:equivalentTo"}
xref: NCIT:C3322 {source="EFO:1001100", source="MONDO:equivalentTo"}
xref: SCTID:126865007 {source="MONDO:equivalentTo"}
xref: UMLS:C0031149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18392"}
is_a: MONDO:0005070 {source="EFO:1001100", source="MESH:D010534/inferred", source="MONDO:Redundant", source="NCIT:C3322/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0006902
name: obsolete periventricular leukomalacia
is_obsolete: true
replaced_by: MONDO:0015742

[Term]
id: MONDO:0006903
name: peroneal nerve paralysis
def: "Paralysis of the nerves located in the legs." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "nerve palsy, peroneal" EXACT [NCIT:C27061]
synonym: "palsy, peroneal nerve" EXACT [NCIT:C27061]
synonym: "peroneal nerve palsy" EXACT [DOID:6925]
xref: DOID:6925 {source="MONDO:equivalentTo", source="EFO:1001102"}
xref: EFO:1001102 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G57.3 {source="DOID:6925"}
xref: MedDRA:10033828 {source="EFO:1001102"}
xref: MEDGEN:78733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020427 {source="MONDO:relatedTo", source="EFO:1001102", source="DOID:6925"}
xref: NCIT:C27061 {source="MONDO:equivalentTo", source="EFO:1001102", source="DOID:6925"}
xref: SCTID:34553007 {source="DOID:6925"}
xref: SCTID:399088004 {source="MONDO:equivalentTo", source="EFO:1001102"}
xref: UMLS:C0270810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78733"}
is_a: MONDO:0003620 {source="DOID:6925", source="NCIT:C27061/inferred"} ! peripheral nervous system disorder

[Term]
id: MONDO:0006904
name: phimosis
def: "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "tight foreskin" EXACT [DOID:2712]
synonym: "tight frenulum" EXACT [DOID:2712]
xref: DOID:2712 {source="MONDO:equivalentTo", source="EFO:1001104"}
xref: EFO:1001104 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N47.1 {source="MONDO:equivalentTo", source="DOID:2712"}
xref: MedDRA:10034878 {source="EFO:1001104"}
xref: MEDGEN:87496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010688 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104"}
xref: NCIT:C26852 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104"}
xref: SCTID:155921009 {source="DOID:2712"}
xref: SCTID:198005005 {source="DOID:2712"}
xref: SCTID:198006006 {source="DOID:2712"}
xref: SCTID:198007002 {source="DOID:2712"}
xref: SCTID:266571009 {source="DOID:2712"}
xref: SCTID:449826002 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104"}
xref: SCTID:52743003 {source="DOID:2712"}
xref: UMLS:C0345326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87496"}
is_a: MONDO:0002036 {source="DOID:2712", source="MESH:D010688", source="NCIT:C26852/inferred"} ! penile disorder

[Term]
id: MONDO:0006905
name: pigmented spindle cell nevus
def: "A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma." [NCIT:C4751]
synonym: "spindle cell Nevus of Reed" EXACT [NCIT:C4751]
xref: DOID:3239 {source="EFO:1001105", source="MONDO:obsolete"}
xref: MEDGEN:105378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018331 {source="MONDO:equivalentTo", source="EFO:1001105"}
xref: NCIT:C4751 {source="MONDO:equivalentTo", source="EFO:1001105", source="MONDO:exact-label-match"}
xref: SCTID:254812004 {source="MONDO:equivalentTo"}
xref: UMLS:C0474967 {source="MEDGEN:105378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="EFO:1001105", source="MESH:D018331/inferred", source="NCIT:C4751/inferred"} ! melanocytic nevus

[Term]
id: MONDO:0006906
name: obsolete pigmented villonodular synovitis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4610" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024686

[Term]
id: MONDO:0006907
name: pilar sheath acanthoma
def: "A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes." [NCIT:C4468]
synonym: "acanthoma of Pilar sheath" EXACT [NCIT:C4468]
synonym: "acanthoma of the Pilar sheath" EXACT [NCIT:C4468]
synonym: "Infundibuloisthmicoma" EXACT [NCIT:C4468]
synonym: "Pilar sheath acanthoma" EXACT [DOID:4322, NCIT:C4468]
xref: DOID:4322 {source="MONDO:equivalentTo", source="EFO:1001107"}
xref: MEDGEN:83398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049309 {source="DOID:4322", source="EFO:1001107"}
xref: NCIT:C4468 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107", source="MONDO:exact-label-match"}
xref: SCTID:254693008 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107"}
xref: UMLS:C0346005 {source="MEDGEN:83398", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002093 {source="DOID:4322", source="NCIT:C4468"} ! acanthoma
relationship: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0006908
name: pituitary apoplexy
def: "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction." [NCIT:P378]
subset: gard_rare {source="GARD:19287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95613"}
subset: orphanet_rare {source="Orphanet:95613"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pituitary gland apoplexy" EXACT [NCIT:C26853]
xref: DOID:1129 {source="MONDO:equivalentTo", source="EFO:1001108"}
xref: EFO:1001108 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19287 {source="MONDO:GARD"}
xref: ICD10CM:E23.6 {source="Orphanet:95613", source="Orphanet:95613/ntbt"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056447 {source="Orphanet:95613", source="EFO:1001108", source="Orphanet:95613/e"}
xref: MEDGEN:18489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010899 {source="MONDO:equivalentTo", source="Orphanet:95613", source="DOID:1129", source="EFO:1001108", source="Orphanet:95613/e"}
xref: NCIT:C26853 {source="MONDO:equivalentTo", source="DOID:1129", source="EFO:1001108"}
xref: Orphanet:95613 {source="MONDO:equivalentTo"}
xref: SCTID:237701005 {source="MONDO:equivalentTo", source="DOID:1129", source="EFO:1001108"}
xref: UMLS:C0032001 {source="MEDGEN:18489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001259 {source="DOID:1129"} ! pituitary gland infarction
is_a: MONDO:0019832 {source="Orphanet:95613"} ! acquired pituitary hormone deficiency

[Term]
id: MONDO:0006909
name: pituitary dwarfism
def: "Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9405 {source="MONDO:obsolete", source="EFO:1001109"}
xref: EFO:1001109 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:253.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001109"}
xref: MedDRA:10035083 {source="EFO:1001109"}
xref: MEDGEN:8506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004393 {source="MONDO:equivalentTo", source="EFO:1001109"}
xref: NCIT:C34555 {source="MONDO:otherHierarchy", source="EFO:1001109"}
xref: SCTID:367460001 {source="MONDO:equivalentTo", source="EFO:1001109"}
xref: UMLS:C0013338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8506"}
is_a: MONDO:0005495 {source="EFO:1001109"} ! adrenal gland disorder

[Term]
id: MONDO:0006910
name: obsolete pituitary-dependent Cushing disease
comment: Obsoleted as only pituitaries secrete ACTH hence this must be equivalent to ACTH-dependent CS
is_obsolete: true
replaced_by: MONDO:0020528

[Term]
id: MONDO:0006911
name: obsolete placental site trophoblastic tumor
is_obsolete: true
replaced_by: MONDO:0020552

[Term]
id: MONDO:0006912
name: pneumatosis cystoides intestinalis
def: "The presence of gas within the wall of the large or small intestine." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13249 {source="MONDO:equivalentTo", source="EFO:1001113"}
xref: EFO:1001113 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:569.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049732 {source="EFO:1001113"}
xref: MEDGEN:18527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011006 {source="DOID:13249", source="MONDO:equivalentTo", source="EFO:1001113"}
xref: NCIT:C122580 {source="MONDO:otherHierarchy", source="EFO:1001113"}
xref: SCTID:117631000119103 {source="DOID:13249"}
xref: SCTID:17465007 {source="DOID:13249", source="MONDO:equivalentTo", source="EFO:1001113"}
xref: UMLS:C0032266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18527"}
is_a: MONDO:0005020 {source="DOID:13249", source="EFO:1001113", source="MESH:D011006"} ! intestinal disorder

[Term]
id: MONDO:0006913
name: pneumococcal meningitis
def: "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" [MESH:D008586]
subset: gard_rare {source="GARD:18849", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:55655"}
subset: orphanet_rare {source="Orphanet:55655"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Streptococcus pneumoniae caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus pneumoniae infectious meningitis" EXACT []
xref: DOID:11575 {source="EFO:1001114", source="MONDO:obsolete"}
xref: EFO:1001114 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18849 {source="MONDO:GARD"}
xref: ICD10CM:G00.1 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="Orphanet:55655/e"}
xref: ICD9:320.1 {source="EFO:1001114", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10027253 {source="Orphanet:55655", source="Orphanet:55655/e"}
xref: MedDRA:10035645 {source="EFO:1001114"}
xref: MEDGEN:44354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008586 {source="Orphanet:55655", source="EFO:1001114", source="MONDO:equivalentTo", source="Orphanet:55655/e"}
xref: NCIT:C157958 {source="MONDO:equivalentTo"}
xref: Orphanet:55655 {source="MONDO:equivalentTo"}
xref: SCTID:51169003 {source="EFO:1001114", source="MONDO:equivalentTo"}
xref: UMLS:C0025295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44354"}
is_a: MONDO:0005113 {source="MONDO:Redundant", source="Orphanet:55655"} ! bacterial infectious disease
is_a: MONDO:0006670 {source="EFO:1001114", source="MESH:D008586", source="MONDO:Redundant"} ! bacterial meningitis
is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:55655"} ! infectious disorder of the nervous system
intersection_of: MONDO:0004796 ! infectious meningitis
intersection_of: disease_has_infectious_agent NCBITaxon:1313 ! Streptococcus pneumoniae
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0006914
name: obsolete POEMS syndrome
is_obsolete: true
replaced_by: MONDO:0017364

[Term]
id: MONDO:0006915
name: polyradiculoneuropathy
def: "Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." [MESH:D011129]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:4308 {source="MONDO:equivalentTo", source="EFO:1001116"}
xref: EFO:1001116 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:46012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011129 {source="MONDO:equivalentTo", source="EFO:1001116", source="DOID:4308"}
xref: SCTID:128078004 {source="MONDO:equivalentTo", source="EFO:1001116", source="DOID:4308"}
xref: UMLS:C0032587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:46012"}
is_a: MONDO:0001824 {source="DOID:4308", source="MESH:D011129", source="Wikipedia:Polyradiculoneuropathy"} ! polyneuropathy
is_a: MONDO:0002562 {source="MESH:D011129"} ! demyelinating disease
is_a: MONDO:0005244 {source="EFO:1001116", source="MONDO:Redundant"} ! peripheral neuropathy

[Term]
id: MONDO:0006916
name: postcholecystectomy syndrome
def: "Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal." [MESH:D017562]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9740 {source="MONDO:equivalentTo", source="EFO:1001117"}
xref: EFO:1001117 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K91.5 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"}
xref: ICD9:576.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001117", source="DOID:9740"}
xref: MEDGEN:101815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017562 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"}
xref: SCTID:90782003 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"}
xref: UMLS:C0152099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101815"}
is_a: MONDO:0004868 {source="DOID:9740", source="MESH:D017562"} ! biliary tract disorder
is_a: MONDO:0006026 {source="EFO:1001117"} ! urinary bladder disorder

[Term]
id: MONDO:0006917
name: posterior cerebral artery infarction
def: "Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia)." [MESH:D020762]
subset: otar {source="MONDO:OTAR"}
xref: DOID:3821 {source="MONDO:equivalentTo", source="EFO:1001118"}
xref: EFO:1001118 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:199818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020762 {source="DOID:3821", source="MONDO:equivalentTo", source="EFO:1001118"}
xref: UMLS:C0752132 {source="MEDGEN:199818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002679 {source="DOID:3821", source="MESH:D020762"} ! cerebral infarction
is_a: MONDO:0006693 {source="DOID:3821", source="MESH:D020762"} ! cerebral arterial disease

[Term]
id: MONDO:0006918
name: posterior uveitis
def: "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." [MESH:D015866]
comment: Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chorioretinal region inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of chorioretinal region" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "uveitis, posterior" EXACT [DOID:12574]
xref: DOID:12574 {source="MONDO:equivalentTo", source="EFO:1001119"}
xref: EFO:1001119 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10036370 {source="EFO:1001119"}
xref: MEDGEN:22597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015866 {source="MONDO:equivalentTo", source="DOID:12574", source="EFO:1001119"}
xref: NCIT:C35111 {source="MONDO:relatedTo", source="DOID:12574", source="EFO:1001119", source="MONDO:directSiblingOf"}
xref: Orphanet:280892 {source="GARD:0004457", source="MONDO:directSiblingOf"}
xref: SCTID:193451001 {source="DOID:12574"}
xref: SCTID:43363007 {source="MONDO:equivalentTo", source="DOID:12574", source="EFO:1001119"}
xref: SCTID:46627006 {source="DOID:12574", source="MONDO:directSiblingOf"}
xref: UMLS:C0042167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22597"}
is_a: MONDO:0020283 {source="DOID:12574/inferred", source="EFO:1001119/inferred", source="MESH:D015866/inferred", source="NCIT:C35111"} ! uveitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0019207 ! chorioretinal region

[Term]
id: MONDO:0006919
name: potassium deficiency
def: "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)" [MESH:D011191]
subset: otar {source="MONDO:OTAR"}
xref: DOID:13582 {source="EFO:1001120", source="MONDO:obsolete"}
xref: EFO:1001120 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10036445 {source="EFO:1001120"}
xref: MEDGEN:10874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011191 {source="EFO:1001120", source="MONDO:equivalentTo"}
xref: UMLS:C0032827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10874"}
is_a: MONDO:0006873 {source="EFO:1001120", source="MESH:D011191"} ! nutritional deficiency disease

[Term]
id: MONDO:0006920
name: prediabetes syndrome
def: "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "borderline diabetes" EXACT [NCIT:C122685]
synonym: "prediabetes" EXACT [DOID:11716]
synonym: "prediabetic state" EXACT [DOID:11716]
xref: DOID:11716 {source="EFO:1001121", source="MONDO:equivalentTo"}
xref: EFO:1001121 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:R73.09 {source="DOID:11716"}
xref: MedDRA:10065542 {source="EFO:1001121"}
xref: MEDGEN:83928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011236 {source="EFO:1001121", source="DOID:11716", source="MONDO:equivalentTo"}
xref: NCIT:C122685 {source="EFO:1001121", source="DOID:11716", source="MONDO:equivalentTo"}
xref: SCTID:15777000 {source="DOID:11716"}
xref: SCTID:714628002 {source="DOID:11716"}
xref: SCTID:9414007 {source="DOID:11716"}
xref: UMLS:C0362046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83928"}
is_a: MONDO:0002908 {source="DOID:11716/inferred", source="MESH:D011236/inferred", source="MONDO:Redundant", source="NCIT:C122685"} ! glucose metabolism disease
relationship: excluded_subClassOf MONDO:0005015 {source="DOID:11716", source="EFO:1001121", source="MESH:D011236", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0006921
name: Actinomycetales infectious disease
def: "Infections with bacteria of the order actinomycetales." [MESH:D000193]
subset: otar {source="MONDO:OTAR"}
synonym: "actinomycetales caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "actinomycetales disease or disorder" EXACT []
synonym: "actinomycetales infection" EXACT [MESH:D000193, NCIT:C84534, UMLS:C0001255]
synonym: "actinomycetales infections" EXACT [MESH:D000193]
synonym: "actinomycete infection" EXACT [MESH:D000193]
synonym: "actinomycete infections" EXACT [MESH:D000193]
synonym: "actinomycosis" RELATED []
synonym: "actinomycotic infection" EXACT []
synonym: "actinomycotic infectious disease" EXACT [MONDO:0024390]
synonym: "infection caused by actinomycetales" RELATED [UMLS:C0001255]
synonym: "infection, actinomycetales" EXACT [MESH:D000193]
synonym: "infection, actinomycete" EXACT [MESH:D000193]
synonym: "infections, actinomycetales" EXACT [MESH:D000193]
synonym: "infections, actinomycete" EXACT [MESH:D000193]
xref: DOID:2313 {source="EFO:1001122", source="MONDO:obsolete"}
xref: EFO:1001122 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:039.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:039.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000193 {source="EFO:1001122", source="MONDO:equivalentTo", source="UMLS:C0001255"}
xref: NCIT:C84534 {source="MONDO:equivalentTo", source="UMLS:C0001255"}
xref: SCTID:11817007 {source="MONDO:equivalentTo"}
xref: SCTID:721751007 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="UMLS:C0001255"}
xref: UMLS:C0001255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1732"}
is_a: MONDO:0005113 {source="EFO:1001122", source="MESH:D000193/inferred", source="MONDO:Redundant", source="NCIT:C84534", source="UMLS:C0001255"} ! bacterial infectious disease
is_a: MONDO:0021679 {source="MESH:D000193"} ! gram-positive bacterial infections
is_a: MONDO:0024389 ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2037 ! Actinomycetales

[Term]
id: MONDO:0006922
name: Anaplasmataceae infectious disease
def: "Infections with bacteria of the family anaplasmataceae." [MESH:D000711]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Anaplasmataceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Anaplasmataceae disease or disorder" EXACT []
synonym: "Anaplasmataceae infection" RELATED [MESH:D000711]
synonym: "Haemobartonelloses" RELATED [MESH:D000711]
synonym: "Haemobartonellosis" RELATED [MESH:D000711]
synonym: "infection, Anaplasmataceae" RELATED [MESH:D000711]
synonym: "infections, Anaplasmataceae" RELATED [MESH:D000711]
xref: DOID:4351 {source="EFO:1001123", source="MONDO:obsolete"}
xref: MESH:D000711 {source="EFO:1001123", source="MONDO:equivalentTo"}
xref: SCTID:422167001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1001123", source="MESH:D000711/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D000711"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:942 ! Anaplasmataceae

[Term]
id: MONDO:0006923
name: Bacillaceae infectious disease
def: "Infections with bacteria of the family bacillaceae." [MESH:D016863]
synonym: "Bacillaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacillaceae disease or disorder" EXACT []
synonym: "Bacillaceae infection" RELATED [MESH:D016863]
synonym: "infection, Bacillaceae" RELATED [MESH:D016863]
synonym: "infections, Bacillaceae" RELATED [MESH:D016863]
xref: DOID:1938 {source="EFO:1001124", source="MONDO:obsolete"}
xref: MEDGEN:39271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016863 {source="MONDO:equivalentTo", source="EFO:1001124"}
xref: UMLS:C0085389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39271"}
is_a: MONDO:0005113 {source="EFO:1001124", source="MESH:D016863/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021679 {source="MESH:D016863"} ! gram-positive bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:186817 ! Bacillaceae

[Term]
id: MONDO:0006924
name: Bartonellaceae infectious disease
def: "Infections with bacteria of the family bartonellaceae." [MESH:D001476]
synonym: "Bartonellaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bartonellaceae disease or disorder" EXACT []
synonym: "Bartonellaceae infection" RELATED [MESH:D001476]
synonym: "infection, Bartonellaceae" RELATED [MESH:D001476]
synonym: "infections, Bartonellaceae" RELATED [MESH:D001476]
xref: DOID:2809 {source="EFO:1001125", source="MONDO:obsolete"}
xref: MEDGEN:2171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001476 {source="EFO:1001125", source="MONDO:equivalentTo"}
xref: UMLS:C0004773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2171"}
is_a: MONDO:0005113 {source="EFO:1001125", source="MESH:D001476/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D001476"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:772 ! Bartonellaceae

[Term]
id: MONDO:0006925
name: Fusobacteriaceae infectious disease
def: "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." [MESH:D045825]
synonym: "Fusobacteriaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fusobacteriaceae disease or disorder" EXACT []
synonym: "Fusobacteriaceae infection" RELATED [MESH:D045825]
synonym: "infection, Fusobacteriaceae" RELATED [MESH:D045825]
synonym: "infections, Fusobacteriaceae" RELATED [MESH:D045825]
xref: DOID:563 {source="EFO:1001126", source="MONDO:obsolete"}
xref: MEDGEN:263530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045825 {source="MONDO:equivalentTo", source="EFO:1001126"}
xref: UMLS:C1258222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:263530"}
is_a: MONDO:0005113 {source="EFO:1001126", source="MESH:D045825/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D045825"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:203492 ! Fusobacteriaceae

[Term]
id: MONDO:0006926
name: haemophilus infectious disease
def: "Infections with bacteria of the genus haemophilus." [MESH:D006192]
subset: otar {source="MONDO:OTAR"}
synonym: "Haemophilus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Haemophilus disease or disorder" EXACT []
synonym: "Haemophilus infection" RELATED [MESH:D006192]
synonym: "Haemophilus infectious disease" EXACT []
synonym: "haemophilus infectious disease" EXACT []
synonym: "Hemophilus infection" RELATED [MESH:D006192]
synonym: "Hemophilus infections" RELATED [MESH:D006192]
synonym: "infection, Haemophilus" RELATED [MESH:D006192]
synonym: "infection, Hemophilus" RELATED [MESH:D006192]
synonym: "infections, Haemophilus" RELATED [MESH:D006192]
synonym: "infections, Hemophilus" RELATED [MESH:D006192]
xref: DOID:10529 {source="EFO:1001127", source="MONDO:obsolete"}
xref: EFO:1001127 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D006192 {source="MONDO:equivalentTo", source="EFO:1001127"}
xref: NCIT:C34654 {source="MONDO:equivalentTo"}
xref: SCTID:41659003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1001127", source="MESH:D006192/inferred", source="MONDO:Redundant", source="NCIT:C34654"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:724 ! Haemophilus

[Term]
id: MONDO:0006927
name: Rickettsiaceae infectious disease
def: "Infections with bacteria of the family rickettsiaceae." [MESH:D012288]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection, Rickettsiaceae" RELATED [MESH:D012288]
synonym: "infections, Rickettsiaceae" RELATED [MESH:D012288]
synonym: "Rickettsiaceae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rickettsiaceae disease or disorder" EXACT []
synonym: "Rickettsiaceae infection" RELATED [MESH:D012288]
synonym: "rickettsialpox" RELATED [MESH:D012288]
xref: DOID:11099 {source="MONDO:obsolete", source="EFO:1001128"}
xref: EFO:1001128 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D012288 {source="MONDO:equivalentTo", source="EFO:1001128"}
is_a: MONDO:0005113 {source="EFO:1001128", source="MESH:D012288/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D012288"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:775 ! Rickettsiaceae

[Term]
id: MONDO:0006928
name: obsolete proliferative vitreoretinopathy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4259" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100450

[Term]
id: MONDO:0006929
name: Proteus infectious disease
def: "Infections with bacteria of the genus proteus." [MESH:D011512]
synonym: "infection, Proteus" RELATED [MESH:D011512]
synonym: "infections, Proteus" RELATED [MESH:D011512]
synonym: "Proteus <enterobacteria> caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Proteus <enterobacteria> disease or disorder" EXACT []
synonym: "Proteus <enterobacteria> infectious disease" EXACT []
synonym: "Proteus infection" RELATED [MESH:D011512]
xref: DOID:3881 {source="EFO:1001130", source="MONDO:obsolete"}
xref: MEDGEN:46164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011512 {source="EFO:1001130", source="MONDO:equivalentTo"}
xref: SCTID:186437007 {source="MONDO:equivalentTo"}
xref: UMLS:C0033700 {source="MONDO:equivalentTo", source="MEDGEN:46164", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1001130", source="MESH:D011512/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:583 ! Proteus <enterobacteria>

[Term]
id: MONDO:0006930
name: pseudobulbar palsy
def: "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes." [NCIT:C129934]
subset: otar {source="MONDO:OTAR"}
synonym: "pseudobulbar palsy" EXACT [DOID:12680, ICD9CM:335.23]
synonym: "pseudobulbar paralysis" EXACT [DOID:12680]
xref: DOID:12680 {source="EFO:1001131", source="MONDO:equivalentTo"}
xref: EFO:1001131 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:335.23 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12680"}
xref: MedDRA:10037114 {source="EFO:1001131"}
xref: MEDGEN:10989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020828 {source="EFO:1001131", source="MONDO:equivalentTo", source="DOID:12680"}
xref: NCIT:C129934 {source="MONDO:equivalentTo"}
xref: SCTID:7379000 {source="EFO:1001131", source="MONDO:equivalentTo", source="DOID:12680"}
xref: UMLS:C0033790 {source="MEDGEN:10989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003569 {source="NCIT:C129934"} ! cranial nerve neuropathy
relationship: excluded_subClassOf MONDO:0020128 {source="DOID:12680", source="https://orcid.org/0000-0001-5208-3432"} ! motor neuron disorder

[Term]
id: MONDO:0006931
name: pulmonary coin lesion
def: "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura." [MESH:D003074]
synonym: "coin lesion lung" EXACT [DOID:5364]
synonym: "coin lesion of lung" EXACT [DOID:5364]
synonym: "coin lesion of lung (context-dependent category)" EXACT [DOID:5364]
synonym: "coin lesion of lung (finding)" EXACT [DOID:5364]
xref: DOID:5364 {source="EFO:1001133", source="MONDO:equivalentTo"}
xref: ICD10CM:R91.1 {source="DOID:5364"}
xref: MEDGEN:3522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003074 {source="EFO:1001133", source="MONDO:equivalentTo", source="DOID:5364"}
xref: SCTID:158600006 {source="DOID:5364"}
xref: SCTID:207405001 {source="DOID:5364"}
xref: SCTID:308689002 {source="DOID:5364"}
xref: SCTID:39347009 {source="EFO:1001133"}
xref: UMLS:C0009250 {source="MEDGEN:3522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 {source="DOID:5364/inferred", source="MESH:D003074"} ! lung disorder
relationship: excluded_subClassOf MONDO:0002732 {source="DOID:5364", source="https://orcid.org/0000-0001-5208-3432"} ! lung benign neoplasm

[Term]
id: MONDO:0006932
name: pulmonary edema
def: "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure)." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "edema, pulmonary" EXACT [NCIT:C26868]
xref: DOID:11396 {source="EFO:1001134", source="MONDO:equivalentTo"}
xref: EFO:1001134 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J81 {source="MONDO:equivalentTo", source="DOID:11396"}
xref: ICD10CM:J81.1 {source="DOID:11396"}
xref: MedDRA:10037375 {source="EFO:1001134"}
xref: MEDGEN:11026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011654 {source="EFO:1001134", source="MONDO:equivalentTo", source="DOID:11396"}
xref: NCIT:C26868 {source="EFO:1001134", source="MONDO:equivalentTo", source="DOID:11396"}
xref: SCTID:19242006 {source="EFO:1001134", source="MONDO:equivalentTo", source="DOID:11396"}
xref: SCTID:196119001 {source="DOID:11396"}
xref: SCTID:266408001 {source="DOID:11396"}
xref: UMLS:C0034063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11026"}
is_a: MONDO:0001208 {source="DOID:11396", source="NCIT:C26868"} ! acute respiratory failure

[Term]
id: MONDO:0006933
name: pulmonary plasma cell granuloma
def: "A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." [MESH:D016726]
synonym: "granuloma, plasma cell, pulmonary" EXACT [DOID:3677]
synonym: "lymphocytic pseudotumor of lung" EXACT [DOID:3677]
synonym: "sclerosing hemangiocytoma of lung" EXACT [DOID:3677]
xref: DOID:3677 {source="MONDO:equivalentTo", source="EFO:1001135"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:38832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016726 {source="MONDO:equivalentTo", source="DOID:3677", source="EFO:1001135"}
xref: SCTID:1648002 {source="MONDO:equivalentTo", source="DOID:3677"}
xref: SCTID:254641006 {source="DOID:3677"}
xref: SCTID:707373004 {source="DOID:3677", source="EFO:1001135"}
xref: UMLS:C0085269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38832"}
is_a: MONDO:0005275 {source="DOID:3677", source="EFO:1001135", source="MESH:D016726"} ! lung disorder

[Term]
id: MONDO:0006935
name: pulmonary subvalvular stenosis
def: "The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital infundibular stenosis" EXACT [DOID:8861, NCIT:C34961]
synonym: "infundibular pulmonic stenosis" EXACT [DOID:8861]
synonym: "infundibular pulmonic stenosis, congenital" EXACT [DOID:8861, ICD9CM:746.83]
synonym: "pulmonary infundibular stenosis" EXACT [DOID:8861]
synonym: "subvalvular pulmonic stenosis" EXACT [DOID:8861]
xref: DOID:8861 {source="MONDO:equivalentTo", source="EFO:1001137"}
xref: EFO:1001137 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q24.3 {source="DOID:8861"}
xref: ICD9:746.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8861"}
xref: MEDGEN:11030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011662 {source="MONDO:equivalentTo", source="EFO:1001137", source="DOID:8861"}
xref: NANDO:2100092 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200276 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34961 {source="MONDO:equivalentTo", source="DOID:8861"}
xref: SCTID:204370002 {source="MONDO:equivalentTo", source="DOID:8861"}
xref: SCTID:3192005 {source="DOID:8861"}
xref: UMLS:C0034084 {source="MONDO:equivalentTo", source="MEDGEN:11030", source="MONDO:MEDGEN"}
is_a: MONDO:0006936 {source="DOID:8861", source="MESH:D011662"} ! pulmonary valve stenosis

[Term]
id: MONDO:0006936
name: pulmonary valve stenosis
def: "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." [MESH:D011666]
subset: otar {source="MONDO:OTAR"}
xref: DOID:6420 {source="MONDO:equivalentTo", source="EFO:1001138"}
xref: EFO:1001138 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10037450 {source="EFO:1001138"}
xref: MEDGEN:18768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011666 {source="MONDO:equivalentTo", source="EFO:1001138", source="DOID:6420"}
xref: NANDO:2200304 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:56786000 {source="DOID:6420"}
xref: UMLS:C0034089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18768"}
is_a: MONDO:0003628 {source="DOID:6420"} ! pulmonary valve disorder

[Term]
id: MONDO:0006937
name: pulpitis
def: "Inflammation of the dental pulp." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dental pulp inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of dental pulp" EXACT []
xref: DOID:11121 {source="MONDO:equivalentTo", source="EFO:1001139"}
xref: EFO:1001139 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K04.0 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"}
xref: ICD9:522.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11121", source="EFO:1001139"}
xref: MedDRA:10037463 {source="EFO:1001139"}
xref: MEDGEN:19580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011671 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"}
xref: NCIT:C52595 {source="MONDO:otherHierarchy", source="DOID:11121", source="EFO:1001139"}
xref: SCTID:155638006 {source="DOID:11121"}
xref: SCTID:196331007 {source="DOID:11121"}
xref: SCTID:32620007 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"}
xref: UMLS:C0034103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19580"}
is_a: MONDO:0003394 {source="DOID:11121", source="MESH:D011671", source="MONDO:Redundant"} ! dental pulp disorder
is_a: MONDO:0005113 {source="EFO:1001139"} ! bacterial infectious disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001754 ! dental pulp

[Term]
id: MONDO:0006938
name: pyelitis
def: "Inflammation of the renal pelvis." [NCIT:P378]
synonym: "inflammation of renal pelvis" EXACT []
synonym: "renal pelvis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:2744 {source="EFO:1001140", source="MONDO:equivalentTo"}
xref: ICD10CM:N12 {source="DOID:2744"}
xref: MedDRA:10037584 {source="EFO:1001140"}
xref: MEDGEN:48268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011702 {source="EFO:1001140", source="MONDO:equivalentTo", source="DOID:2744"}
xref: NCIT:C34964 {source="EFO:1001140", source="MONDO:equivalentTo", source="DOID:2744"}
xref: SCTID:197780007 {source="DOID:2744"}
xref: SCTID:27174002 {source="EFO:1001140", source="MONDO:equivalentTo", source="DOID:2744"}
xref: UMLS:C0034183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48268"}
is_a: MONDO:0005240 {source="DOID:2744", source="EFO:1001140", source="MESH:D011702/inferred", source="MONDO:Redundant", source="NCIT:C34964/inferred"} ! kidney disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0006939
name: pyelonephritis
def: "An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion." [NCIT:C34965]
subset: otar {source="MONDO:OTAR"}
synonym: "kidney infection" EXACT [NCIT:C34965]
synonym: "pyometrium" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11400 {source="EFO:1001141", source="MONDO:equivalentTo"}
xref: EFO:1001141 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N10-N16 {source="DOID:11400"}
xref: ICD10CM:N12 {source="DOID:11400"}
xref: ICD10CM:N16 {source="DOID:11400"}
xref: ICD9:590.80 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11400"}
xref: MedDRA:10037596 {source="EFO:1001141"}
xref: MEDGEN:19590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011704 {source="EFO:1001141", source="MONDO:equivalentTo", source="DOID:11400"}
xref: NCIT:C34965 {source="EFO:1001141", source="MONDO:equivalentTo", source="DOID:11400"}
xref: SCTID:197779009 {source="DOID:11400"}
xref: SCTID:197784003 {source="DOID:11400"}
xref: SCTID:45816000 {source="EFO:1001141", source="MONDO:equivalentTo", source="DOID:11400"}
xref: UMLS:C0034186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19590"}
is_a: MONDO:0001786 {source="https://orcid.org/0000-0002-6601-2165"} ! uterine inflammatory disease
is_a: MONDO:0005247 {source="NCIT:C34965"} ! bacterial urinary tract infection
is_a: MONDO:0006938 {source="DOID:11400", source="MESH:D011704"} ! pyelitis

[Term]
id: MONDO:0006940
name: radial nerve lesion
def: "A peripheral nerve lesion that involves the radial nerve." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lesion of radial nerve" EXACT [DOID:12170, ICD9CM:354.3]
synonym: "lesion of radial nerve, NOS" RELATED EXCLUDE [DOID:12170]
synonym: "peripheral nerve lesion of radial nerve" EXACT [MONDO:design_pattern]
synonym: "radial nerve lesions" EXACT [DOID:12170]
synonym: "radial nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:12170 {source="EFO:1001143", source="MONDO:equivalentTo"}
xref: EFO:1001143 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G56.3 {source="EFO:1001143", source="DOID:12170"}
xref: ICD10CM:G56.30 {source="DOID:12170"}
xref: ICD9:354.3 {source="DOID:12170", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10061477 {source="EFO:1001143"}
xref: MEDGEN:102317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020425 {source="EFO:1001143", source="DOID:12170"}
xref: SCTID:16644004 {source="DOID:12170"}
xref: SCTID:193137006 {source="EFO:1001143", source="DOID:12170", source="MONDO:equivalentTo"}
xref: SCTID:193140006 {source="DOID:12170"}
xref: UMLS:C0154744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102317"}
is_a: MONDO:0001459 {source="DOID:12170", source="MONDO:Redundant"} ! radial neuropathy
is_a: MONDO:0003607 {source="DOID:12170"} ! neuritis of upper limb
intersection_of: MONDO:0024334 ! peripheral nerve lesion
intersection_of: disease_has_location UBERON:0001492 ! radial nerve

[Term]
id: MONDO:0006941
name: rat-bite fever
def: "An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus." [NCIT:C34971]
subset: gard_rare {source="GARD:9557", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31205"}
subset: orphanet_rare {source="Orphanet:31205"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "rat bite fever" RELATED [GARD:0009557]
synonym: "spirillosis" EXACT [NCIT:C34971]
synonym: "Streptobacillosis" EXACT [NCIT:C34971]
xref: DOID:12097 {source="EFO:1001144", source="MONDO:obsolete"}
xref: EFO:1001144 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9557 {source="MONDO:GARD"}
xref: ICD10CM:A25.0 {source="Orphanet:31205/btnt", source="Orphanet:31205"}
xref: ICD10CM:A25.1 {source="Orphanet:31205/btnt", source="Orphanet:31205"}
xref: ICD10CM:A25.9 {source="Orphanet:31205/btnt", source="Orphanet:31205"}
xref: icd11.foundation:1026551291 {source="Orphanet:31205", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:026.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10037904 {source="Orphanet:31205", source="Orphanet:31205/e"}
xref: MEDGEN:11123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011906 {source="Orphanet:31205", source="EFO:1001144", source="MONDO:equivalentTo", source="Orphanet:31205/e"}
xref: NCIT:C34971 {source="MONDO:equivalentTo"}
xref: Orphanet:31205 {source="MONDO:equivalentTo"}
xref: SCTID:1685005 {source="EFO:1001144", source="MONDO:equivalentTo"}
xref: UMLS:C0034686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11123"}
is_a: MONDO:0005113 {source="EFO:1001144", source="MESH:D011906/inferred", source="MONDO:Redundant", source="NCIT:C34971/inferred", source="Orphanet:31205"} ! bacterial infectious disease
intersection_of: MONDO:0005113 ! bacterial infectious disease
intersection_of: transmitted_by NCBITaxon:10114 ! Rattus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever" xsd:anyURI {source="GARD:0009557"}

[Term]
id: MONDO:0006942
name: obsolete reflex epilepsy
is_obsolete: true
replaced_by: MONDO:0017768

[Term]
id: MONDO:0006943
name: obsolete relapsing polychondritis
is_obsolete: true
replaced_by: MONDO:0019125

[Term]
id: MONDO:0006944
name: renal aminoaciduria
def: "A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved." [MESH:D000608]
xref: DOID:1061 {source="EFO:1001149", source="MONDO:obsolete"}
xref: MedDRA:10001939 {source="EFO:1001149"}
xref: MEDGEN:254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000608 {source="MONDO:equivalentTo", source="EFO:1001149"}
xref: SCTID:35912001 {source="MONDO:equivalentTo", source="EFO:1001149"}
xref: UMLS:C0002534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:254"}
is_a: MONDO:0005240 {source="EFO:1001149", source="MESH:D000608/inferred"} ! kidney disorder

[Term]
id: MONDO:0006945
name: renal artery obstruction
def: "Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular)." [MESH:D012078]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2972 {source="MONDO:equivalentTo", source="EFO:1001150"}
xref: EFO:1001150 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N28.0 {source="DOID:2972"}
xref: MEDGEN:48406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012078 {source="DOID:2972", source="MONDO:equivalentTo", source="EFO:1001150"}
xref: UMLS:C0035066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48406"}
is_a: MONDO:0002286 {source="DOID:2972"} ! renal artery disease

[Term]
id: MONDO:0006946
name: renal osteodystrophy
def: "Abnormalities of bone mineral metabolism associated with chronic kidney disease." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Osteodystrophies, renal" RELATED [MESH:D012080]
synonym: "osteodystrophy, renal" RELATED [MESH:D012080]
synonym: "renal Osteodystrophies" RELATED [MESH:D012080]
synonym: "renal rickets" EXACT [DOID:13068, MESH:D012080]
synonym: "rickets, renal" RELATED [MESH:D012080]
xref: DOID:13068 {source="EFO:1001152", source="MONDO:equivalentTo"}
xref: EFO:1001152 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N25.0 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068"}
xref: ICD9:588.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13068"}
xref: MedDRA:10038489 {source="EFO:1001152"}
xref: MEDGEN:20524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012080 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068"}
xref: NCIT:C114827 {source="EFO:1001152", source="MONDO:otherHierarchy", source="DOID:13068"}
xref: SCTID:155858005 {source="DOID:13068"}
xref: SCTID:16726004 {source="EFO:1001152", source="MONDO:equivalentTo", source="DOID:13068"}
xref: SCTID:197668007 {source="DOID:13068"}
xref: SCTID:266617009 {source="DOID:13068"}
xref: UMLS:C0035086 {source="MEDGEN:20524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001343 {source="DOID:13068", source="ICD10CM:N25.0", source="MONDO:Redundant"} ! impaired renal function disease
is_a: MONDO:0005240 {source="DOID:13068/inferred", source="EFO:1001152", source="MESH:D012080", source="MONDO:Redundant", source="MONDO:indirect"} ! kidney disorder
is_a: MONDO:0005520 {source="MESH:D012080"} ! rickets
is_a: MONDO:0006964 {source="MESH:D012080", source="MONDO:Redundant"} ! secondary hyperparathyroidism

[Term]
id: MONDO:0006947
name: renovascular hypertension
def: "High blood pressure secondary to renal artery stenosis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "renovascular hypertension" EXACT [MONDO:ambiguous]
synonym: "renovascular hypertension (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:1591 {source="EFO:1001153", source="MONDO:equivalentTo"}
xref: EFO:1001153 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100817 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I15.0 {source="MONDO:equivalentTo", source="DOID:1591"}
xref: ICD9:405.91 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006978 {source="EFO:1001153", source="DOID:1591"}
xref: NANDO:2100016 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200141 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85044 {source="EFO:1001153", source="MONDO:otherHierarchy", source="DOID:1591"}
xref: SCTID:123799005 {source="EFO:1001153", source="MONDO:equivalentTo", source="DOID:1591"}
xref: SCTID:194790006 {source="DOID:1591"}
xref: UMLS:C0020545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43786"}
is_a: MONDO:0001105 {source="DOID:1591", source="EFO:1001153"} ! renal hypertension
property_value: IAO:0000589 "renovascular hypertension (disease)" xsd:string

[Term]
id: MONDO:0006948
name: retinal artery occlusion
def: "An occlusion of the retinal artery." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8483 {source="EFO:1001154", source="MONDO:equivalentTo"}
xref: EFO:1001154 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10038827 {source="EFO:1001154"}
xref: MEDGEN:11208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015356 {source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483"}
xref: NCIT:C34978 {source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483"}
xref: SCTID:232035005 {source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483"}
xref: UMLS:C0035302 {source="MEDGEN:11208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002089 {source="DOID:8483", source="NCIT:C34978"} ! retinal vascular occlusion
is_a: MONDO:0005328 {source="EFO:1001154", source="MESH:D015356/inferred", source="MONDO:Redundant", source="NCIT:C34978/inferred"} ! eye disorder

[Term]
id: MONDO:0006949
name: retinal drusen
def: "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." [MESH:D015593]
subset: otar {source="MONDO:OTAR"}
xref: DOID:2569 {source="EFO:1001155", source="MONDO:equivalentTo"}
xref: EFO:1001155 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:362.57 {source="DOID:2569"}
xref: MedDRA:10062776 {source="EFO:1001155"}
xref: MEDGEN:20549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015593 {source="EFO:1001155", source="MONDO:equivalentTo", source="DOID:2569"}
xref: SCTID:141199000 {source="DOID:2569"}
xref: SCTID:163999003 {source="DOID:2569"}
xref: SCTID:247153005 {source="EFO:1001155", source="MONDO:equivalentTo", source="DOID:2569"}
xref: UMLS:C0035312 {source="MEDGEN:20549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002175 {source="DOID:2569"} ! degeneration of macula and posterior pole

[Term]
id: MONDO:0006950
name: retinal vasculitis
def: "Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis." [MESH:D031300]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "retinal vasculitis" EXACT [DOID:11563, ICD9CM:362.18]
xref: DOID:11563 {source="EFO:1001156", source="MONDO:equivalentTo"}
xref: EFO:1001156 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H35.06 {source="DOID:11563"}
xref: ICD9:362.18 {source="EFO:1001156", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11563"}
xref: MedDRA:10038905 {source="EFO:1001156"}
xref: MEDGEN:57503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D031300 {source="EFO:1001156", source="MONDO:equivalentTo", source="DOID:11563"}
xref: SCTID:193367006 {source="DOID:11563"}
xref: SCTID:77628002 {source="EFO:1001156", source="MONDO:equivalentTo", source="DOID:11563"}
xref: UMLS:C0152026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57503"}
is_a: MONDO:0002311 {source="DOID:11563"} ! retinal vascular disorder
is_a: MONDO:0018882 {source="DOID:11563", source="EFO:1001156", source="MESH:D031300", source="MONDO:Redundant"} ! vasculitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0004864 ! vasculature of retina

[Term]
id: MONDO:0006951
name: retinal vein occlusion
def: "An occlusion of the retinal vein." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "occlusion, of retinal vein" EXACT [DOID:1727]
synonym: "retinal vein occlusion" EXACT [DOID:1727]
xref: DOID:1727 {source="MONDO:equivalentTo", source="EFO:1001157"}
xref: EFO:1001157 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10038907 {source="EFO:1001157"}
xref: MEDGEN:19763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012170 {source="MONDO:equivalentTo", source="EFO:1001157", source="DOID:1727"}
xref: NCIT:C34981 {source="MONDO:equivalentTo", source="EFO:1001157", source="DOID:1727"}
xref: SCTID:46085004 {source="MONDO:equivalentTo", source="DOID:1727"}
xref: UMLS:C0035328 {source="MEDGEN:19763", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002089 {source="DOID:1727", source="NCIT:C34981"} ! retinal vascular occlusion
is_a: MONDO:0005328 {source="EFO:1001157", source="MESH:D012170/inferred", source="MONDO:Redundant", source="NCIT:C34981/inferred"} ! eye disorder

[Term]
id: MONDO:0006952
name: retinopathy of prematurity
def: "A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia." [NCIT:P378]
subset: gard_rare {source="GARD:5695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1663"}
subset: ordo_disorder {source="Orphanet:90050"}
subset: orphanet_rare {source="Orphanet:90050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "premature retinopathy" EXACT [DOID:13025]
synonym: "retrolental fibroplasia" EXACT [DOID:13025, ICD9CM:362.21, Orphanet:90050]
synonym: "ROP" EXACT ABBREVIATION [OMIM:133780, Orphanet:90050]
synonym: "Terry syndrome" EXACT [NCIT:C34982]
xref: DOID:13025 {source="EFO:1001158", source="MONDO:equivalentTo"}
xref: EFO:1001158 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5695 {source="MONDO:GARD"}
xref: ICD10CM:H35.1 {source="Orphanet:90050", source="EFO:1001158", source="Orphanet:90050/e", source="DOID:13025"}
xref: ICD10CM:H35.10 {source="DOID:13025"}
xref: ICD10CM:H35.17 {source="DOID:13025"}
xref: icd11.foundation:947283385 {source="Orphanet:90050", source="MONDO:equivalentTo"}
xref: ICD9:362.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13025"}
xref: ICD9:362.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13025"}
xref: MedDRA:10038933 {source="Orphanet:90050", source="EFO:1001158", source="Orphanet:90050/e"}
xref: MEDGEN:48438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012178 {source="Orphanet:90050", source="EFO:1001158", source="MONDO:equivalentTo", source="Orphanet:90050/e", source="DOID:13025"}
xref: NCIT:C34982 {source="EFO:1001158", source="MONDO:equivalentTo", source="DOID:13025"}
xref: NORD:1663 {source="MONDO:NORD"}
xref: OMIM:133780 {source="Orphanet:90050", source="Orphanet:90050/ntbt", source="MONDO:includedEntryInOMIM"}
xref: Orphanet:90050 {source="MONDO:equivalentTo"}
xref: SCTID:155110004 {source="DOID:13025"}
xref: SCTID:415297005 {source="EFO:1001158", source="MONDO:equivalentTo", source="DOID:13025"}
xref: SCTID:74277007 {source="DOID:13025"}
xref: UMLS:C0035344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48438"}
is_a: MONDO:0005283 {source="DOID:13025", source="EFO:1001158", source="MESH:D012178", source="NCIT:C34982"} ! retinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0006953
name: Rh isoimmunization
def: "The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Rh incompatibility affecting management of mother" EXACT [DOID:4175]
xref: DOID:4175 {source="MONDO:equivalentTo", source="EFO:1001159"}
xref: EFO:1001159 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10039016 {source="EFO:1001159"}
xref: MEDGEN:11224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012203 {source="EFO:1001159", source="DOID:4175"}
xref: NCIT:C113150 {source="MONDO:otherHierarchy", source="DOID:4175"}
xref: SCTID:156182009 {source="DOID:4175"}
xref: SCTID:199580004 {source="DOID:4175"}
xref: SCTID:199581000 {source="DOID:4175"}
xref: SCTID:199584008 {source="DOID:4175"}
xref: SCTID:44795003 {source="MONDO:equivalentTo", source="DOID:4175"}
xref: UMLS:C0035404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11224"}
is_a: MONDO:0002901 {source="DOID:4175"} ! blood group incompatibility

[Term]
id: MONDO:0006954
name: obsolete rheumatic fever
is_obsolete: true
replaced_by: MONDO:0017767

[Term]
id: MONDO:0006955
name: rheumatic heart disease
def: "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction." [NCIT:C34882]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, rheumatic heart" EXACT [NCIT:C34882]
synonym: "heart disease, rheumatic" EXACT [NCIT:C34882]
synonym: "RHD" EXACT ABBREVIATION [NCIT:C34882]
synonym: "rheumatic carditis" EXACT [DOID:0050827]
xref: DOID:0050827 {source="MONDO:equivalentTo"}
xref: EFO:1001161 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I05-I09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:398.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:398.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062110 {source="EFO:1001161"}
xref: MEDGEN:20565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012214 {source="MONDO:equivalentTo", source="EFO:1001161"}
xref: NCIT:C34882 {source="MONDO:equivalentTo", source="EFO:1001161"}
xref: SCTID:23685000 {source="MONDO:equivalentTo", source="EFO:1001161"}
xref: UMLS:C0035439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20565"}
is_a: MONDO:0004995 {source="DOID:0050827/inferred", source="EFO:1001161/inferred", source="ICD10CM:I05-I09", source="MESH:D012214/inferred", source="NCIT:C34882/inferred"} ! cardiovascular disorder
relationship: disease_has_inflammation_site UBERON:0000948 ! heart
relationship: excluded_subClassOf MONDO:0002869 {source="DOID:0050827", source="https://orcid.org/0000-0001-5208-3432"} ! heart valve disorder

[Term]
id: MONDO:0006956
name: Rickettsiosis
def: "A group of infectious diseases that is caused by Rickettsia." [NCIT:C34991]
comment: We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus
subset: disease_grouping
subset: gard_rare {source="GARD:19827", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:102021"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection, Rickettsia" EXACT [MESH:D012282]
synonym: "infections, Rickettsia" EXACT [MESH:D012282]
synonym: "Rickettsia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Rickettsia disease or disorder" EXACT []
synonym: "Rickettsia infection" EXACT [MESH:D012282]
synonym: "Rickettsia infectious disease" EXACT []
synonym: "Rickettsiae disease" EXACT [Orphanet:102021]
synonym: "Rickettsial disease" EXACT [MONDO:0015154]
synonym: "Rickettsial infectious disease" EXACT [NCIT:C34991]
synonym: "Rickettsial infectious disorder" EXACT [NCIT:C34991]
synonym: "Rickettsiosis" EXACT [NCIT:C34991]
xref: DOID:1709 {source="EFO:1001162", source="MONDO:obsolete"}
xref: EFO:1001162 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19827 {source="MONDO:GARD"}
xref: ICD10CM:A75-A79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:083.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10061495 {source="EFO:1001162"}
xref: MEDGEN:20584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012282 {source="EFO:1001162", source="MONDO:equivalentTo"}
xref: NCIT:C34991 {source="EFO:1001162", source="MONDO:equivalentTo"}
xref: Orphanet:102021 {source="MONDO:equivalentTo"}
xref: SCTID:37246009 {source="MONDO:equivalentTo"}
xref: SCTID:416829003 {source="EFO:1001162"}
xref: UMLS:C0035585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20584"}
is_a: MONDO:0005113 {source="EFO:1001162", source="MESH:D012282/inferred", source="MONDO:Redundant", source="NCIT:C34991", source="Orphanet:102021"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:766 ! Rickettsiales
relationship: disease_has_infectious_agent NCBITaxon:766 ! Rickettsiales
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0006957
name: root caries
def: "Dental caries involving the tooth root, cementum, or cervical area of the tooth." [MESH:D017213]
subset: otar {source="MONDO:OTAR"}
synonym: "cementum caries" EXACT [DOID:14089]
synonym: "cementum dental caries" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "dental caries of cementum" EXACT [MONDO:design_pattern]
synonym: "dental caries of root surface" EXACT [DOID:14089, ICD9CM:521.08]
synonym: "root caries" EXACT [DOID:14089]
xref: DOID:14089 {source="EFO:1001163", source="MONDO:equivalentTo"}
xref: EFO:1001163 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:521.08 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14089"}
xref: MEDGEN:57954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017213 {source="EFO:1001163", source="MONDO:equivalentTo", source="DOID:14089"}
xref: SCTID:234975001 {source="DOID:14089"}
xref: SCTID:30512007 {source="MONDO:equivalentTo", source="DOID:14089"}
xref: UMLS:C0162644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57954"}
is_a: MONDO:0002233 ! enamel caries
is_a: MONDO:0005276 {source="DOID:14089", source="EFO:1001163", source="MESH:D017213", source="MONDO:Redundant"} ! dental caries
intersection_of: MONDO:0005276 ! dental caries
intersection_of: disease_has_location UBERON:0001753 ! cementum

[Term]
id: MONDO:0006958
name: obsolete SAPHO syndrome
is_obsolete: true
replaced_by: MONDO:0019266

[Term]
id: MONDO:0006959
name: obsolete Schnitzler syndrome
is_obsolete: true
replaced_by: MONDO:0018304

[Term]
id: MONDO:0006960
name: sciatic neuropathy
def: "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" [MESH:D020426]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:11446 {source="EFO:1001166", source="MONDO:equivalentTo"}
xref: EFO:1001166 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10048950 {source="EFO:1001166"}
xref: MEDGEN:57705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020426 {source="DOID:11446", source="EFO:1001166", source="MONDO:equivalentTo"}
xref: SCTID:52585001 {source="DOID:11446", source="EFO:1001166", source="MONDO:equivalentTo"}
xref: UMLS:C0149940 {source="MEDGEN:57705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001397 {source="DOID:11446/inferred", source="MESH:D020426"} ! mononeuropathy
relationship: excluded_subClassOf MONDO:0001543 {source="DOID:11446", source="https://orcid.org/0000-0001-5208-3432"} ! lesion of sciatic nerve

[Term]
id: MONDO:0006961
name: scrapie
def: "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions." [MESH:D012608]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:5434 {source="MONDO:equivalentTo", source="EFO:1001168"}
xref: EFO:1001168 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:19903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012608 {source="DOID:5434", source="MONDO:equivalentTo", source="EFO:1001168"}
xref: SCTID:35103004 {source="DOID:5434"}
xref: UMLS:C0036457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19903"}
is_a: MONDO:0005429 {source="DOID:5434", source="EFO:1001168", source="MESH:D012608"} ! prion disease

[Term]
id: MONDO:0006962
name: sebaceous adenocarcinoma
def: "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." [NCIT:C40310]
comment: We follow NCIT and treat sebaceous carcinoma and sebaceous adenocarcinoma as equivalent.
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of the sebaceous gland" EXACT [DOID:4839, NCIT:C3767]
synonym: "adenocarcinoma, sebaceous, malignant" EXACT [NCIT:C40310]
synonym: "carcinoma of sebaceous gland" EXACT [NCIT:C40310]
synonym: "carcinoma of the sebaceous gland" EXACT [NCIT:C40310]
synonym: "malignant neoplasm of sebaceous gland" RELATED EXCLUDE [DOID:4840]
synonym: "malignant sebaceous tumor" NARROW [DOID:4840, NCIT:C8409]
synonym: "malignant sebaceous tumour" NARROW OMO:0003005 []
synonym: "Seba" RELATED [ONCOTREE:SEBA]
synonym: "sebaceous cancer" EXACT [NCIT:C40310]
synonym: "sebaceous carcinoma" EXACT [DOID:4839, MONDO:0003160, NCIT:C40310]
synonym: "sebaceous gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "sebaceous gland carcinoma" EXACT [NCIT:C40310]
xref: DOID:4839 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:1001171"}
xref: DOID:4840 {source="MONDO:equivalentTo"}
xref: EFO:1001171 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C44 {source="DOID:4840"}
xref: ICDO:8410/3 {source="NCIT:C40310"}
xref: MEDGEN:64632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018266 {source="MONDO:equivalentTo", source="DOID:4839", source="EFO:1001171"}
xref: NCIT:C40310 {source="MONDO:equivalentTo", source="DOID:4839"}
xref: NCIT:C8409 {source="DOID:4840", source="MONDO:directSiblingOf"}
xref: ONCOTREE:SEBA {source="MONDO:equivalentTo"}
xref: SCTID:188083002 {source="DOID:4840"}
xref: SCTID:255094009 {source="DOID:4840"}
xref: SCTID:307599002 {source="MONDO:equivalentTo", source="DOID:4839"}
xref: SCTID:54734006 {source="DOID:4839", source="EFO:1001171"}
xref: UMLS:C0206684 {source="MEDGEN:64632", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="EFO:1001171", source="MESH:D018266", source="MONDO:Redundant", source="NCIT:C40310"} ! adenocarcinoma
is_a: MONDO:0006963 {source="MONDO:Entailed", source="NCIT:C40310/inferred"} ! sebaceous gland neoplasm
is_a: MONDO:0006973 {source="MONDO:Redundant", source="NCIT:C40310"} ! skin appendage carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland

[Term]
id: MONDO:0006963
name: sebaceous gland neoplasm
def: "A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma." [NCIT:C3363]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of sebaceous gland" EXACT [MONDO:patterns/neoplasm]
synonym: "sebaceous gland neoplasm" EXACT [NCIT:C3363]
synonym: "sebaceous gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sebaceous gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3363]
synonym: "sebaceous gland tumour" EXACT OMO:0003005 []
synonym: "sebaceous neoplasm" EXACT [DOID:5759, NCIT:C3363]
synonym: "sebaceous tumor" EXACT [NCIT:C3363]
synonym: "sebaceous tumour" EXACT OMO:0003005 []
synonym: "tumor of sebaceous gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of sebaceous gland" EXACT OMO:0003005 []
xref: DOID:5759 {source="MONDO:equivalentTo", source="EFO:1001172"}
xref: EFO:1001172 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012626 {source="MONDO:equivalentTo", source="DOID:5759", source="EFO:1001172"}
xref: NCIT:C3363 {source="MONDO:equivalentTo", source="DOID:5759", source="MONDO:exact-label-match", source="EFO:1001172"}
xref: SCTID:126491004 {source="MONDO:equivalentTo", source="DOID:5759"}
xref: SCTID:92337009 {source="EFO:1001172"}
xref: UMLS:C0036503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19911"}
is_a: MONDO:0002297 {source="MONDO:Redundant", source="NCIT:C3363"} ! epidermal appendage tumor
is_a: MONDO:0002531 {source="DOID:5759", source="EFO:1001172", source="MESH:D012626", source="MONDO:Redundant", source="NCIT:C3363/inferred"} ! skin neoplasm
is_a: MONDO:0006607 {source="MESH:D012626", source="MONDO:Redundant"} ! sebaceous gland disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland

[Term]
id: MONDO:0006964
name: secondary hyperparathyroidism
def: "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "secondary hyperparathyroidism" EXACT [MONDO:ambiguous]
synonym: "secondary hyperparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "secondary hyperparathyroidism NOS" NARROW [DOID:12466]
xref: DOID:12466 {source="EFO:1001173", source="MONDO:equivalentTo"}
xref: EFO:1001173 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000867 {source="MONDO:otherHierarchy"}
xref: MedDRA:10020708 {source="EFO:1001173"}
xref: MEDGEN:9368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006962 {source="EFO:1001173", source="MONDO:equivalentTo", source="DOID:12466"}
xref: NCIT:C113335 {source="EFO:1001173", source="MONDO:equivalentTo", source="DOID:12466"}
xref: SCTID:91478007 {source="EFO:1001173", source="MONDO:equivalentTo", source="DOID:12466"}
xref: UMLS:C0020503 {source="MEDGEN:9368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001741 {source="DOID:12466", source="MESH:D006962", source="NCIT:C113335"} ! hyperparathyroidism
union_of: MONDO:0001530 ! secondary hyperparathyroidism of renal origin
union_of: MONDO:0001750 ! non-renal secondary hyperparathyroidism
property_value: IAO:0000589 "secondary hyperparathyroidism (disease)" xsd:string

[Term]
id: MONDO:0006965
name: secondary hypertrophic osteoarthropathy
def: "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" [MESH:D010005]
subset: otar {source="MONDO:OTAR"}
synonym: "Bamberger-Marie disease" EXACT [DOID:10393]
synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [DOID:10393]
synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [DOID:10393, ICD9CM:731.2]
synonym: "hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]" EXACT [DOID:10393]
synonym: "Marie Bamberger disease" EXACT [DOID:10393]
xref: DOID:10393 {source="EFO:1001174", source="MONDO:equivalentTo"}
xref: EFO:1001174 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M89.4 {source="DOID:10393"}
xref: ICD9:731.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10393"}
xref: MEDGEN:18211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010005 {source="EFO:1001174", source="MONDO:equivalentTo", source="DOID:10393"}
xref: SCTID:203357004 {source="MONDO:equivalentTo", source="DOID:10393"}
xref: SCTID:222712005 {source="DOID:10393"}
xref: SCTID:46922002 {source="DOID:10393"}
xref: UMLS:C0029412 {source="MEDGEN:18211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:10393", source="MESH:D010005"} ! arthropathy

[Term]
id: MONDO:0006966
name: secondary Parkinson disease
def: "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder presenting primarily with parkinsonism" EXACT [DOID:13548]
synonym: "secondary Parkinsonism" EXACT [DOID:13548, ICD9CM:332.1, NCIT:C34899]
synonym: "secondary parkinsonism (disorder) [ambiguous]" EXACT [DOID:13548]
synonym: "secondary parkinsonism, unspecified" EXACT [DOID:13548]
synonym: "symptomatic parkinsonism" EXACT [DOID:13548]
xref: DOID:13548 {source="EFO:1001175", source="MONDO:equivalentTo"}
xref: EFO:1001175 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G21 {source="DOID:13548"}
xref: ICD10CM:G21.9 {source="DOID:13548"}
xref: ICD9:332.1 {source="DOID:13548"}
xref: MEDGEN:10592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010302 {source="DOID:13548", source="EFO:1001175", source="MONDO:equivalentTo"}
xref: NCIT:C34899 {source="DOID:13548", source="MONDO:equivalentTo"}
xref: SCTID:192830002 {source="DOID:13548"}
xref: SCTID:194477000 {source="DOID:13548"}
xref: SCTID:230292008 {source="DOID:13548"}
xref: SCTID:265377002 {source="DOID:13548", source="MONDO:equivalentTo"}
xref: SCTID:32798002 {source="DOID:13548"}
xref: SCTID:50364008 {source="DOID:13548"}
xref: UMLS:C0030569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10592"}
is_a: MONDO:0005559 {source="DOID:13548", source="EFO:1001175", source="EFO:1001175/inferred"} ! neurodegenerative disease
relationship: disease_has_feature HP:0001300 ! Parkinsonism
relationship: disease_shares_features_of MONDO:0005180 ! Parkinson disease

[Term]
id: MONDO:0006967
name: obsolete septic abortion
xref: DOID:2910 {source="EFO:1001177", source="MONDO:obsolete"}
xref: MedDRA:10040056 {source="EFO:1001177"}
xref: MESH:D000031 {source="MONDO:obsoleteEquivalent", source="EFO:1001177"}
is_obsolete: true

[Term]
id: MONDO:0006968
name: shoulder impingement syndrome
def: "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" [MESH:D019534]
subset: otar {source="MONDO:OTAR"}
synonym: "Impingement syndrome of shoulder region" EXACT [DOID:14276]
synonym: "shoulder impingement syndrome (disorder) [ambiguous]" EXACT [DOID:14276]
synonym: "subacromial impingement" EXACT [DOID:14276]
xref: DOID:14276 {source="EFO:1001178", source="MONDO:equivalentTo"}
xref: EFO:1001178 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M75.4 {source="EFO:1001178", source="MONDO:equivalentTo", source="DOID:14276"}
xref: ICD9:726.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049039 {source="EFO:1001178"}
xref: MEDGEN:138249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019534 {source="EFO:1001178", source="MONDO:equivalentTo", source="DOID:14276"}
xref: SCTID:128498000 {source="DOID:14276"}
xref: SCTID:202849001 {source="MONDO:equivalentTo", source="DOID:14276"}
xref: SCTID:202851002 {source="DOID:14276"}
xref: SCTID:239960007 {source="EFO:1001178", source="DOID:14276"}
xref: SCTID:366831005 {source="DOID:14276"}
xref: UMLS:C0376685 {source="MONDO:equivalentTo", source="MEDGEN:138249", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="DOID:14276", source="EFO:1001178", source="MESH:D019534"} ! arthropathy

[Term]
id: MONDO:0006969
name: sialadenitis
def: "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common." [https://rarediseases.info.nih.gov/diseases/7638/sialadenitis]
comment: Editor note: TODO check NCIT mapping
subset: otar {source="MONDO:OTAR"}
synonym: "adenitis, salivary gland" RELATED [GARD:0007638]
synonym: "lymphadenitis (disease) of saliva-secreting gland" EXACT []
synonym: "saliva-secreting gland lymphadenitis (disease)" EXACT [MONDO:patterns/location]
synonym: "salivary gland inflammation" RELATED [GARD:0007638]
synonym: "sialitis" EXACT [NCIT:C115165]
synonym: "sialoadenitis" EXACT [DOID:10303]
xref: DOID:10303 {source="MONDO:equivalentTo", source="EFO:1001179"}
xref: EFO:1001179 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K11.2 {source="DOID:10303"}
xref: ICD10CM:K11.20 {source="DOID:10303"}
xref: ICD9:527.2 {source="DOID:10303", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10040627 {source="EFO:1001179"}
xref: MEDGEN:48657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012793 {source="DOID:10303", source="MONDO:equivalentTo", source="EFO:1001179"}
xref: NCIT:C115165 {source="DOID:10303", source="MONDO:equivalentTo"}
xref: NCIT:C26882 {source="DOID:10303", source="MONDO:equivalentTo", source="EFO:1001179", source="MONDO:altHierarchy"}
xref: SCTID:155655005 {source="DOID:10303"}
xref: SCTID:196481002 {source="DOID:10303"}
xref: SCTID:196490009 {source="DOID:10303"}
xref: SCTID:266494007 {source="DOID:10303"}
xref: SCTID:42982001 {source="DOID:10303", source="MONDO:equivalentTo", source="EFO:1001179"}
xref: UMLS:C0037023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48657"}
is_a: MONDO:0001142 {source="DOID:10303", source="EFO:1001179", source="MESH:D012793", source="MONDO:Redundant", source="NCIT:C115165/inferred"} ! salivary gland disorder
is_a: MONDO:0002052 {source="DOID:10303", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphadenitis
intersection_of: MONDO:0002052 ! lymphadenitis
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7638/sialadenitis" xsd:anyURI {source="GARD:0007638"}

[Term]
id: MONDO:0006970
name: sialolithiasis
def: "A concretion in the salivary gland." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "salivary gland Stone" EXACT [DOID:12905, NCIT:C34994]
synonym: "sialolith" EXACT [DOID:12905]
synonym: "Stone of salivary gland or duct" EXACT [DOID:12905]
xref: DOID:12905 {source="MONDO:equivalentTo", source="EFO:1001180"}
xref: EFO:1001180 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K11.5 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"}
xref: ICD9:527.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12905"}
xref: MedDRA:10040631 {source="EFO:1001180"}
xref: MEDGEN:48536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015494 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"}
xref: NCIT:C34994 {source="MONDO:otherHierarchy", source="DOID:12905", source="EFO:1001180", source="MONDO:altHierarchy"}
xref: SCTID:109767003 {source="DOID:12905"}
xref: SCTID:155656006 {source="DOID:12905"}
xref: SCTID:196507003 {source="DOID:12905"}
xref: SCTID:28826002 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"}
xref: UMLS:C0036091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48536"}
is_a: MONDO:0001142 {source="DOID:12905", source="EFO:1001180", source="MESH:D015494/inferred"} ! salivary gland disorder

[Term]
id: MONDO:0006971
name: sigmoid neoplasm
def: "Tumors or cancer of the sigmoid colon." [MESH:D012811]
comment: Editor note: NCIT uses rectosigmoid as a region
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of sigmoid colon" EXACT [MONDO:patterns/neoplasm]
synonym: "sigmoid colon neoplasm" EXACT []
synonym: "sigmoid colon neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sigmoid colon tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "sigmoid colon tumour" EXACT OMO:0003005 []
synonym: "tumor of sigmoid colon" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of sigmoid colon" EXACT OMO:0003005 []
xref: DOID:1896 {source="MONDO:equivalentTo", source="EFO:1001181"}
xref: EFO:1001181 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:153.3 {source="EFO:1001181"}
xref: MedDRA:10026456 {source="EFO:1001181"}
xref: MEDGEN:20753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012811 {source="DOID:1896", source="MONDO:equivalentTo", source="EFO:1001181"}
xref: SCTID:126845000 {source="DOID:1896", source="MONDO:equivalentTo", source="EFO:1001181"}
xref: SCTID:254581007 {source="DOID:1896"}
xref: UMLS:C0037073 {source="MEDGEN:20753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005401 {source="EFO:1001181", source="MESH:D012811", source="MONDO:Entailed", source="MONDO:Redundant"} ! colonic neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001159 ! sigmoid colon

[Term]
id: MONDO:0006972
name: silo filler disease
def: "A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." [MESH:D012832]
synonym: "silo filler disease" EXACT [DOID:4374]
synonym: "silo filler's disease" RELATED [DOID:4374]
synonym: "silo-fillers' disease" EXACT [DOID:4374]
xref: DOID:4374 {source="MONDO:equivalentTo", source="EFO:1001182"}
xref: MEDGEN:11428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012832 {source="MONDO:equivalentTo", source="DOID:4374", source="EFO:1001182"}
xref: SCTID:61233003 {source="MONDO:equivalentTo", source="DOID:4374"}
xref: UMLS:C0037120 {source="MEDGEN:11428", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 {source="DOID:4374", source="EFO:1001182", source="MESH:D012832/inferred"} ! lung disorder
relationship: realized_in_response_to_stimulus ENVO:00003030 ! silage

[Term]
id: MONDO:0006973
name: skin appendage carcinoma
def: "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "adnexal carcinoma" EXACT [NCIT:C3775]
synonym: "carcinoma of adnexa" EXACT [NCIT:C3775]
synonym: "carcinoma of cutaneous appendage" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of skin appendage" EXACT [NCIT:C3775]
synonym: "carcinoma, adnexal, malignant" EXACT [NCIT:C3775]
synonym: "cutaneous appendage carcinoma" EXACT [MONDO:patterns/location]
synonym: "skin adnexal carcinoma" RELATED [ONCOTREE:SKAC]
synonym: "skin appendage carcinoma" EXACT [NCIT:C3775]
xref: DOID:4684 {source="MONDO:obsolete", source="EFO:1001183"}
xref: EFO:1001183 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8390/3 {source="NCIT:C3775"}
xref: MedDRA:10040798 {source="EFO:1001183"}
xref: MEDGEN:60209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018280 {source="MONDO:equivalentTo", source="EFO:1001183"}
xref: NCIT:C3775 {source="MONDO:equivalentTo", source="EFO:1001183"}
xref: ONCOTREE:SKAC {source="MONDO:equivalentTo"}
xref: SCTID:64000002 {source="EFO:1001183"}
xref: UMLS:C0206697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60209"}
is_a: MONDO:0002297 {source="MONDO:Redundant", source="NCIT:C3775/inferred"} ! epidermal appendage tumor
is_a: MONDO:0002656 {source="MONDO:Redundant", source="NCIT:C3775"} ! skin carcinoma
is_a: MONDO:0004993 {source="EFO:1001183", source="EFO:1001183/inferred", source="MESH:D018280/inferred", source="MONDO:0006973/inferred", source="MONDO:Redundant", source="NCIT:C3775/inferred"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000021 ! cutaneous appendage

[Term]
id: MONDO:0006974
name: small cell sarcoma
def: "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm." [NCIT:C3746]
subset: otar {source="MONDO:OTAR"}
synonym: "small cell sarcoma" EXACT [NCIT:C3746]
synonym: "small cell sarcomas" EXACT [NCIT:C3746]
xref: DOID:3098 {source="EFO:1001184", source="MONDO:equivalentTo"}
xref: EFO:1001184 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8803/3 {source="NCIT:C3746"}
xref: MEDGEN:60201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018228 {source="EFO:1001184", source="MONDO:equivalentTo", source="DOID:3098"}
xref: NCIT:C3746 {source="EFO:1001184", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3098"}
xref: SCTID:73506006 {source="EFO:1001184", source="DOID:3098"}
xref: UMLS:C0206652 {source="MEDGEN:60201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="EFO:1001184", source="MESH:D018228", source="NCIT:C3746"} ! sarcoma
relationship: excluded_subClassOf MONDO:0002176 {source="DOID:3098", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete connective tissue cancer

[Term]
id: MONDO:0006975
name: smooth muscle tumor
def: "A benign or malignant myomatous neoplasm arising from smooth muscle." [NCIT:C3751]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of smooth muscle" EXACT [NCIT:C3751]
synonym: "neoplasm of the smooth muscle" EXACT [NCIT:C3751]
synonym: "smooth muscle neoplasm" EXACT [NCIT:C3751]
synonym: "smooth muscle tumor" EXACT [NCIT:C3751]
synonym: "tumor of smooth muscle" EXACT [NCIT:C3751]
synonym: "tumor of the smooth muscle" EXACT [NCIT:C3751]
synonym: "tumour of smooth muscle" EXACT OMO:0003005 []
synonym: "tumour of the smooth muscle" EXACT OMO:0003005 []
xref: DOID:4310 {source="EFO:1001185", source="MONDO:equivalentTo"}
xref: EFO:1001185 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:104911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018235 {source="DOID:4310", source="EFO:1001185", source="MONDO:equivalentTo"}
xref: NCIT:C3751 {source="DOID:4310", source="EFO:1001185", source="MONDO:equivalentTo"}
xref: SCTID:189799007 {source="DOID:4310"}
xref: SCTID:75109009 {source="DOID:4310", source="EFO:1001185"}
xref: UMLS:C0206658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104911"}
is_a: MONDO:0005070 {source="DOID:4310/inferred", source="EFO:1001185", source="EFO:1001185/inferred", source="MESH:D018235/inferred", source="MONDO:Redundant", source="NCIT:C3751/inferred"} ! neoplasm
is_a: MONDO:0021545 {source="MESH:D018235", source="MONDO:Redundant", source="NCIT:C3751"} ! myomatous neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000192 ! smooth muscle cell
relationship: disease_arises_from_structure CL:0000192 {source="NCIT:C3751"} ! smooth muscle cell

[Term]
id: MONDO:0006976
name: somatostatinoma
def: "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1." [NCIT:P378]
subset: gard_rare {source="GARD:4900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97283"}
subset: orphanet_rare {source="Orphanet:97283"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ampullary somatostatinoma" RELATED [GARD:0004900]
synonym: "carcinoid somatostatinoma" RELATED [GARD:0004900]
synonym: "Delta cell tumor" EXACT [NCIT:C3379]
synonym: "Delta cell tumour" EXACT OMO:0003005 []
synonym: "malignant islet cell tumor" RELATED [GARD:0004900]
synonym: "malignant islet cell tumour" RELATED OMO:0003005 []
synonym: "Somatomedin-secreting carcinoid" RELATED [GARD:0004900]
synonym: "somatostatin cell neoplasm" EXACT [DOID:4430, NCIT:C3379]
synonym: "somatostatin cell tumor" EXACT [DOID:4430, NCIT:C3379]
synonym: "somatostatin cell tumour" EXACT OMO:0003005 []
synonym: "somatostatin producing tumor" EXACT [NCIT:C3379]
synonym: "somatostatin producing tumour" EXACT OMO:0003005 []
synonym: "somatostatin-producing NET" EXACT [NCIT:C3379]
synonym: "somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C3379]
synonym: "somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "somatostatin-producing tumor" EXACT [NCIT:C3379]
synonym: "somatostatin-producing tumour" EXACT OMO:0003005 []
synonym: "somatostatin-secreting pancreatic neoplasm" RELATED [GARD:0004900]
synonym: "somatostatinoma" EXACT [NCIT:C3379]
synonym: "tumor of Delta cells" EXACT [NCIT:C3379]
synonym: "tumor of the Delta cells" EXACT [NCIT:C3379]
synonym: "tumour of Delta cells" EXACT OMO:0003005 []
synonym: "tumour of the Delta cells" EXACT OMO:0003005 []
xref: DOID:4430 {source="EFO:1001187", source="MONDO:equivalentTo"}
xref: EFO:1001187 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4900 {source="MONDO:GARD"}
xref: ICD10CM:E16.8 {source="Orphanet:97283", source="Orphanet:97283/ntbt"}
xref: ICD9:235.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8156/1 {source="NCIT:C3379"}
xref: MedDRA:10041329 {source="Orphanet:97283/e", source="EFO:1001187", source="Orphanet:97283"}
xref: MEDGEN:52416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013005 {source="Orphanet:97283/e", source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo", source="Orphanet:97283"}
xref: NCIT:C3379 {source="DOID:4430", source="MONDO:equivalentTo"}
xref: Orphanet:97283 {source="MONDO:equivalentTo"}
xref: SCTID:128642005 {source="DOID:4430"}
xref: SCTID:253006001 {source="DOID:4430", source="EFO:1001187", source="MONDO:equivalentTo"}
xref: UMLS:C0037661 {source="MEDGEN:52416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000386 {source="MONDO:Redundant", source="NCIT:C3379"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0005369 {source="EFO:1001187", source="MONDO:Redundant", source="MONDO:indirect"} ! carcinoid tumor
is_a: MONDO:0019954 {source="MONDO:Redundant", source="Orphanet:97283", source="Orphanet:97283/inferred"} ! pancreatic neuroendocrine tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma" xsd:anyURI {source="GARD:0004900"}

[Term]
id: MONDO:0006977
name: spermatocele
def: "A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11997 {source="EFO:1001189", source="MONDO:equivalentTo"}
xref: EFO:1001189 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N43.4 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"}
xref: ICD10CM:N43.40 {source="DOID:11997"}
xref: ICD10CM:N50.3 {source="DOID:11997"}
xref: ICD9:608.1 {source="DOID:11997", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10041490 {source="EFO:1001189"}
xref: MEDGEN:20857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013088 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"}
xref: NCIT:C120909 {source="DOID:11997", source="EFO:1001189", source="MONDO:otherHierarchy"}
xref: NCIT:C3865 {source="DOID:11997", source="MONDO:otherHierarchy"}
xref: SCTID:155936007 {source="DOID:11997"}
xref: SCTID:155941004 {source="DOID:11997"}
xref: SCTID:43077002 {source="DOID:11997"}
xref: SCTID:49263001 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"}
xref: UMLS:C0037859 {source="MEDGEN:20857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="DOID:11997", source="ICD10CM:N43.4/inferred", source="MESH:D013088"} ! male reproductive system disorder

[Term]
id: MONDO:0006978
name: splenic infarction
def: "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" [MESH:D013159]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infarct of the spleen" RELATED [GARD:0009973]
synonym: "splenic infarct" EXACT [DOID:2533]
synonym: "splenic infarction" EXACT [DOID:2533]
synonym: "splenic infarcts" RELATED [GARD:0009973]
xref: DOID:2533 {source="MONDO:equivalentTo", source="EFO:1001190"}
xref: EFO:1001190 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D73.5 {source="MONDO:equivalentTo", source="DOID:2533"}
xref: ICD9:289.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10041648 {source="EFO:1001190"}
xref: MEDGEN:52468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013159 {source="MONDO:equivalentTo", source="DOID:2533", source="EFO:1001190"}
xref: SCTID:154839008 {source="DOID:2533"}
xref: SCTID:22996003 {source="MONDO:equivalentTo", source="DOID:2533", source="EFO:1001190"}
xref: SCTID:267570002 {source="DOID:2533"}
xref: UMLS:C0037998 {source="MEDGEN:52468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002332 {source="DOID:2533", source="ICD10CM:D73.5", source="MESH:D013159"} ! splenic disorder
intersection_of: MONDO:0020674 ! vascular insufficiency disorder
intersection_of: disease_has_location UBERON:0036301 ! vasculature of spleen

[Term]
id: MONDO:0006979
name: steatitis
def: "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" [MESH:D013231]
synonym: "Nutritional Panniculitis" EXACT [https://www.merckvetmanual.com/]
synonym: "Nutritional Steatitis" EXACT [https://www.merckvetmanual.com/]
synonym: "Yellow fat disease" EXACT [https://www.merckvetmanual.com/]
xref: DOID:4025 {source="MONDO:equivalentObsolete", source="EFO:1001191"}
xref: MESH:D013231 {source="DOID:4025", source="MONDO:equivalentTo", source="EFO:1001191"}
xref: SCTID:33882007 {source="MONDO:equivalentTo", source="EFO:1001191"}
is_a: MONDO:0005583 {source="EFO:1001191", source="MESH:D013231"} ! non-human animal disease
is_a: MONDO:0700103 ! nutritional deficiency disease, non-human animal
property_value: RO:0002175 NCBITaxon:169418 {source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9685 {source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0006980
name: struma ovarii
def: "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion)." [NCIT:C7468]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "struma ovarii" EXACT [NCIT:C7468]
synonym: "struma ovarii (morphologic abnormality)" EXACT [DOID:2640]
synonym: "struma ovarii NOS (morphologic abnormality)" EXACT [DOID:2640]
xref: DOID:2640 {source="MONDO:equivalentTo", source="EFO:1001192"}
xref: EFO:1001192 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9090/0 {source="NCIT:C7468"}
xref: MEDGEN:20977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013330 {source="DOID:2640", source="MONDO:equivalentTo", source="EFO:1001192"}
xref: NCIT:C7468 {source="DOID:2640", source="MONDO:equivalentTo"}
xref: SCTID:189851000 {source="DOID:2640"}
xref: SCTID:24327009 {source="DOID:2640"}
xref: UMLS:C0038478 {source="MEDGEN:20977", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002372 {source="DOID:2640", source="NCIT:C7468"} ! ovarian monodermal and highly specialized teratoma

[Term]
id: MONDO:0006981
name: subacute bacterial endocarditis
def: "Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between \"acute\" and \"subacute\" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endocarditis lenta" EXACT [DOID:4562]
synonym: "SBE" EXACT ABBREVIATION [NCIT:C34583]
synonym: "SBE - Subacute bacterial endocarditis" EXACT [DOID:4562]
synonym: "Subacute bacterial endocarditis" EXACT [DOID:4562]
synonym: "Subacute endocarditis, lenta" EXACT [DOID:4562]
xref: DOID:4562 {source="MONDO:equivalentTo", source="EFO:1001193"}
xref: EFO:1001193 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10042271 {source="EFO:1001193"}
xref: MEDGEN:41780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004698 {source="DOID:4562", source="MONDO:equivalentTo", source="EFO:1001193"}
xref: NCIT:C34583 {source="DOID:4562", source="MONDO:equivalentTo", source="EFO:1001193"}
xref: SCTID:155334001 {source="DOID:4562"}
xref: SCTID:194923008 {source="DOID:4562"}
xref: SCTID:50194006 {source="DOID:4562"}
xref: SCTID:73774007 {source="DOID:4562", source="MONDO:equivalentTo", source="EFO:1001193"}
xref: UMLS:C0014122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41780"}
is_a: MONDO:0000565 {source="DOID:4562"} ! infective endocarditis
is_a: MONDO:0005025 {source="DOID:4562/inferred", source="EFO:1001193", source="MESH:D004698/inferred", source="MONDO:Redundant", source="NCIT:C34583"} ! endocarditis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0006982
name: subacute thyroiditis
def: "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "De Quervain thyroiditis" EXACT [NCIT:C35828]
synonym: "De Quervain's thyroiditis" EXACT [DOID:7165]
synonym: "de Quervain's thyroiditis" EXACT [DOID:7165]
synonym: "DeQuervain thyroiditis" EXACT [NCIT:C35828]
synonym: "giant-cell thyroiditis" EXACT [DOID:7165]
synonym: "granulomatous thyroiditis" EXACT [DOID:7165]
synonym: "Subacute granulomatous thyroiditis" EXACT [DOID:7165, NCIT:C35828]
synonym: "Subacute thyroiditis" EXACT [DOID:7165, NCIT:C35071]
xref: DOID:7165 {source="MONDO:equivalentTo", source="EFO:1001194"}
xref: EFO:1001194 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E06.1 {source="MONDO:equivalentTo", source="DOID:7165"}
xref: ICD9:245.1 {source="DOID:7165"}
xref: MedDRA:10042298 {source="EFO:1001194"}
xref: MEDGEN:21549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013968 {source="MONDO:equivalentTo", source="DOID:7165", source="EFO:1001194"}
xref: NCIT:C35071 {source="MONDO:equivalentTo", source="DOID:7165", source="EFO:1001194"}
xref: NCIT:C35828 {source="MONDO:equivalentTo", source="DOID:7165"}
xref: SCTID:154666006 {source="DOID:7165"}
xref: SCTID:190296009 {source="DOID:7165"}
xref: SCTID:237530000 {source="DOID:7165"}
xref: SCTID:237531001 {source="DOID:7165"}
xref: SCTID:237532008 {source="DOID:7165"}
xref: SCTID:237533003 {source="DOID:7165"}
xref: SCTID:38727009 {source="DOID:7165", source="EFO:1001194"}
xref: SCTID:428041004 {source="MONDO:equivalentTo", source="DOID:7165"}
xref: UMLS:C0040149 {source="MEDGEN:21549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004126 {source="DOID:7165", source="MESH:D013968", source="NCIT:C35828/inferred"} ! thyroiditis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0006983
name: subclavian steal syndrome
def: "An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention." [NCIT:P378]
synonym: "subclavian artery stenosis" EXACT [DOID:13002]
synonym: "subclavian steal phenomenon" EXACT [DOID:13002]
synonym: "subclavian steal steno-occlusive disease" EXACT [DOID:13002]
xref: DOID:13002 {source="EFO:1001195", source="MONDO:equivalentTo"}
xref: ICD9:435.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13002"}
xref: MedDRA:10042335 {source="EFO:1001195"}
xref: MEDGEN:20983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013349 {source="EFO:1001195", source="MONDO:equivalentTo", source="DOID:13002"}
xref: NCIT:C35044 {source="EFO:1001195", source="MONDO:equivalentTo", source="DOID:13002"}
xref: SCTID:15258001 {source="EFO:1001195", source="MONDO:equivalentTo", source="DOID:13002"}
xref: SCTID:300921000 {source="DOID:13002"}
xref: UMLS:C0038531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20983"}
is_a: MONDO:0002254 {source="DOID:13002", source="NCIT:C35044"} ! syndromic disease
is_a: MONDO:0011057 {source="EFO:1001195", source="MESH:D013349/inferred"} ! cerebrovascular disorder

[Term]
id: MONDO:0006984
name: subdural empyema
def: "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid." [MESH:D013354]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "subdural abscess" EXACT [DOID:11389]
xref: DOID:11389 {source="EFO:1001196", source="MONDO:equivalentTo"}
xref: EFO:1001196 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10042360 {source="EFO:1001196"}
xref: MEDGEN:52531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013354 {source="EFO:1001196", source="MONDO:equivalentTo", source="DOID:11389"}
xref: SCTID:37660004 {source="EFO:1001196", source="MONDO:equivalentTo", source="DOID:11389"}
xref: UMLS:C0038539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52531"}
is_a: MONDO:0002602 {source="DOID:11389", source="MESH:D013354/inferred"} ! central nervous system disorder
is_a: MONDO:0005242 {source="MESH:D013354"} ! empyema

[Term]
id: MONDO:0006985
name: obsolete subependymoma
is_obsolete: true
replaced_by: MONDO:0007667

[Term]
id: MONDO:0006986
name: substernal goiter
def: "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms." [MESH:D006045]
synonym: "retrosternal thyroid goiter" EXACT [DOID:13200]
synonym: "retrosternal thyroid goitre" EXACT OMO:0003005 []
xref: DOID:13200 {source="EFO:1001198", source="MONDO:equivalentTo"}
xref: MEDGEN:9066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006045 {source="EFO:1001198", source="MONDO:equivalentTo", source="DOID:13200"}
xref: SCTID:190234009 {source="DOID:13200"}
xref: SCTID:66392007 {source="EFO:1001198", source="MONDO:equivalentTo", source="DOID:13200"}
xref: UMLS:C0018024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9066"}
is_a: MONDO:0005397 {source="DOID:13200", source="EFO:1001198", source="MESH:D006045"} ! goiter

[Term]
id: MONDO:0006987
name: subvalvular aortic stenosis
def: "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects." [NCIT:P378]
subset: gard_rare {source="GARD:5052", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:5805 {source="EFO:1001199", source="MONDO:equivalentTo"}
xref: EFO:1001199 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5052 {source="MONDO:GARD"}
xref: MedDRA:10042431 {source="EFO:1001199"}
xref: MEDGEN:90950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001020 {source="EFO:1001199", source="MONDO:equivalentTo", source="DOID:5805"}
xref: NANDO:2100093 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200277 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85172 {source="EFO:1001199", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:5805"}
xref: SCTID:204368006 {source="MONDO:equivalentTo", source="DOID:5805"}
xref: SCTID:250915007 {source="DOID:5805"}
xref: UMLS:C0340375 {source="MONDO:equivalentTo", source="MEDGEN:90950", source="MONDO:MEDGEN"}
is_a: MONDO:0042981 {source="DOID:5805", source="EFO:1001199"} ! aortic valve stenosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis" xsd:anyURI {source="GARD:0005052"}

[Term]
id: MONDO:0006988
name: sulfhemoglobinemia
def: "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" [MESH:D013436]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sulfemoglobinemia" EXACT [DOID:12451]
xref: DOID:12451 {source="EFO:1001200", source="MONDO:equivalentTo"}
xref: EFO:1001200 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10042481 {source="EFO:1001200"}
xref: MEDGEN:52562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013436 {source="EFO:1001200", source="MONDO:equivalentTo", source="DOID:12451"}
xref: SCTID:191386007 {source="DOID:12451"}
xref: SCTID:191391008 {source="DOID:12451"}
xref: SCTID:32117000 {source="EFO:1001200", source="MONDO:equivalentTo", source="DOID:12451"}
xref: UMLS:C0038732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52562"}
is_a: MONDO:0044348 {source="SCTID:32117000"} ! hemoglobinopathy

[Term]
id: MONDO:0006989
name: suppurative periapical periodontitis
def: "Localized collection of pus in the tissues that enclose the root of a tooth." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "apical abscess" EXACT [DOID:2562]
synonym: "dentoalveolar abscess" EXACT [DOID:2562, NCIT:C34913]
synonym: "periapical abscess" EXACT [DOID:2562]
synonym: "periapical dental abscess" EXACT [NCIT:C34913]
synonym: "suppurative apical periodontitis" EXACT [DOID:2562]
xref: DOID:2562 {source="EFO:1001202", source="MONDO:equivalentTo"}
xref: EFO:1001202 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:10652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010482 {source="DOID:2562", source="EFO:1001202", source="MONDO:equivalentTo"}
xref: NCIT:C34913 {source="DOID:2562", source="MONDO:equivalentTo"}
xref: SCTID:109603007 {source="DOID:2562"}
xref: SCTID:196341005 {source="DOID:2562"}
xref: SCTID:34597006 {source="DOID:2562"}
xref: UMLS:C0031024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10652"}
is_a: MONDO:0004508 {source="DOID:2562", source="MESH:D010482"} ! periapical periodontitis

[Term]
id: MONDO:0006990
name: suppurative uveitis
def: "Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." [MESH:D015829]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:13140 {source="MONDO:equivalentTo", source="EFO:1001203"}
xref: MEDGEN:22598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015829 {source="MONDO:equivalentTo", source="DOID:13140", source="EFO:1001203"}
xref: UMLS:C0042168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22598"}
is_a: MONDO:0020283 {source="DOID:13140", source="EFO:1001203", source="MESH:D015829"} ! uveitis

[Term]
id: MONDO:0006991
name: obsolete sympathetic ophthalmia
is_obsolete: true
replaced_by: MONDO:0019198

[Term]
id: MONDO:0006992
name: syphilitic aortitis
def: "Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm." [MESH:D013589]
subset: otar {source="MONDO:OTAR"}
xref: DOID:11582 {source="EFO:1001206", source="MONDO:obsolete"}
xref: EFO:1001206 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A52.02 {source="MONDO:equivalentTo", source="EFO:1001206"}
xref: ICD9:093.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001206"}
xref: MedDRA:10042900 {source="EFO:1001206"}
xref: MEDGEN:364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013589 {source="EFO:1001206"}
xref: SCTID:20735004 {source="MONDO:equivalentTo", source="EFO:1001206"}
xref: UMLS:C0003511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:364"}
is_a: MONDO:0005976 {source="EFO:1001206"} ! syphilis

[Term]
id: MONDO:0006993
name: systolic heart failure
def: "Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying." [MESH:D054143]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9651 {source="MONDO:equivalentTo", source="EFO:1001207"}
xref: EFO:1001207 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I50.2 {source="EFO:1001207"}
xref: ICD10CM:I50.20 {source="DOID:9651"}
xref: ICD9:428.2 {source="DOID:9651", source="EFO:1001207"}
xref: ICD9:428.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9651"}
xref: MedDRA:10074631 {source="EFO:1001207"}
xref: MEDGEN:210050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054143 {source="MONDO:equivalentTo", source="DOID:9651", source="EFO:1001207"}
xref: SCTID:417996009 {source="MONDO:equivalentTo", source="DOID:9651", source="EFO:1001207"}
xref: UMLS:C1135191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:210050"}
is_a: MONDO:0005009 {source="DOID:9651", source="EFO:1001207"} ! congestive heart failure

[Term]
id: MONDO:0006994
name: tarsal tunnel syndrome
def: "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." [https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome]
subset: gard_rare {source="GARD:7733", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuropathy of the posterior tibial nerve and its branches" RELATED [GARD:0007733]
synonym: "posterior tibial nerve neuralgia" RELATED [GARD:0007733]
xref: DOID:12526 {source="MONDO:equivalentTo", source="EFO:1001208"}
xref: EFO:1001208 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7733 {source="MONDO:GARD"}
xref: ICD10CM:G57.5 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"}
xref: ICD10CM:G57.50 {source="DOID:12526"}
xref: ICD9:355.5 {source="DOID:12526", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10043121 {source="EFO:1001208"}
xref: MEDGEN:52646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013641 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"}
xref: NCIT:C85183 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"}
xref: SCTID:155077008 {source="DOID:12526"}
xref: SCTID:47374004 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"}
xref: UMLS:C0039319 {source="MEDGEN:52646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C85183"} ! syndromic disease
is_a: MONDO:0006997 {source="DOID:12526", source="EFO:1001208", source="MESH:D013641"} ! tibial neuropathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome" xsd:anyURI {source="GARD:0007733"}

[Term]
id: MONDO:0006995
name: tethered spinal cord syndrome
def: "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "spinal cord syndrome" EXACT [NCIT:C99080]
synonym: "spinal dysraphism" RELATED EXCLUDE [DOID:1089]
synonym: "tethered cord" EXACT [NCIT:C99080]
xref: DOID:1089 {source="EFO:1001210", source="MONDO:equivalentTo"}
xref: EFO:1001210 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q05 {source="DOID:1089"}
xref: ICD10CM:Q05.9 {source="DOID:1089"}
xref: ICD9:741 {source="DOID:1089"}
xref: ICD9:756.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:36387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016135 {source="DOID:1089", source="MONDO:relatedTo", source="EFO:1001210"}
xref: NCIT:C101214 {source="DOID:1089", source="MONDO:relatedTo"}
xref: NCIT:C99080 {source="EFO:1001210", source="MONDO:equivalentTo"}
xref: SCTID:156888006 {source="DOID:1089"}
xref: SCTID:204017003 {source="DOID:1089"}
xref: SCTID:249491000119100 {source="MONDO:equivalentTo"}
xref: SCTID:67531005 {source="DOID:1089", source="MONDO:relatedTo"}
xref: UMLS:C0080218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:36387"}
is_a: MONDO:0002254 {source="NCIT:C99080"} ! syndromic disease
is_a: MONDO:0002545 {source="DOID:1089"} ! spinal cord disorder

[Term]
id: MONDO:0006996
name: thyroid crisis
def: "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "thyroid crisis" EXACT [DOID:12837, MONDO:ambiguous]
synonym: "thyroid crisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "thyroid storm" EXACT [NCIT:C112836]
synonym: "thyrotoxic crisis" EXACT [DOID:12837]
xref: DOID:12837 {source="MONDO:equivalentTo", source="EFO:1001212"}
xref: EFO:1001212 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0011782 {source="MONDO:otherHierarchy"}
xref: ICD9:242.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:242.91 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10043705 {source="EFO:1001212"}
xref: MEDGEN:11813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013958 {source="MONDO:equivalentTo", source="DOID:12837", source="EFO:1001212"}
xref: NCIT:C112836 {source="MONDO:equivalentTo", source="DOID:12837"}
xref: SCTID:190262002 {source="DOID:12837"}
xref: SCTID:29028009 {source="MONDO:equivalentTo", source="DOID:12837", source="EFO:1001212"}
xref: UMLS:C0040127 {source="MEDGEN:11813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="DOID:12837", source="EFO:1001212", source="MESH:D013958/inferred", source="NCIT:C112836/inferred"} ! thyroid gland disorder
is_a: MONDO:0004425 {source="MESH:D013958/inferred", source="NCIT:C112836"} ! hyperthyroidism
property_value: IAO:0000589 "thyroid crisis (disease)" xsd:string

[Term]
id: MONDO:0006997
name: tibial neuropathy
def: "Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" [MESH:D020429]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Posterior tibial neuropathy" EXACT [DOID:1187]
synonym: "tibial neuropathy (disorder) [ambiguous]" EXACT [DOID:1187]
xref: DOID:1187 {source="EFO:1001213", source="MONDO:equivalentTo"}
xref: MEDGEN:148422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020429 {source="DOID:1187", source="EFO:1001213", source="MONDO:equivalentTo"}
xref: SCTID:35062009 {source="DOID:1187"}
xref: SCTID:359842002 {source="DOID:1187"}
xref: SCTID:399076001 {source="DOID:1187", source="EFO:1001213", source="MONDO:equivalentTo"}
xref: SCTID:399364006 {source="DOID:1187"}
xref: UMLS:C0751932 {source="MEDGEN:148422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001397 {source="DOID:1187", source="MESH:D020429"} ! mononeuropathy

[Term]
id: MONDO:0006998
name: tonsil cancer
def: "A primary or metastatic malignant neoplasm that affects the tonsil." [NCIT:C7404]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of tonsil" BROAD [MONDO:patterns/cancer]
synonym: "malignant neoplasm of faucial tonsil" EXACT [DOID:8858]
synonym: "malignant neoplasm of palatine tonsil" EXACT [DOID:8858]
synonym: "malignant neoplasm of the tonsil" EXACT [NCIT:C7404]
synonym: "malignant neoplasm of tonsil" EXACT [MONDO:patterns/cancer, NCIT:C7404]
synonym: "malignant neoplasm of tonsil, faucial" EXACT [DOID:8858]
synonym: "malignant tonsil neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7404]
synonym: "malignant tonsil tumor" EXACT [NCIT:C7404]
synonym: "malignant tonsil tumour" EXACT OMO:0003005 []
synonym: "malignant tonsillar neoplasm" EXACT [NCIT:C7404]
synonym: "malignant tonsillar tumor" EXACT [DOID:8858, NCIT:C7404]
synonym: "malignant tonsillar tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of the tonsil" EXACT [NCIT:C7404]
synonym: "malignant tumor of tonsil" EXACT [NCIT:C7404]
synonym: "malignant tumour of the tonsil" EXACT OMO:0003005 []
synonym: "malignant tumour of tonsil" EXACT OMO:0003005 []
synonym: "tonsil cancer" EXACT [MONDO:patterns/location]
xref: DOID:8858 {source="MONDO:equivalentTo", source="EFO:1001214"}
xref: EFO:1001214 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C09 {source="MONDO:equivalentTo", source="DOID:8858"}
xref: ICD10CM:C09.9 {source="DOID:8858"}
xref: ICD9:146.0 {source="MONDO:equivalentTo", source="DOID:8858", source="MONDO:i2s"}
xref: MedDRA:10044002 {source="EFO:1001214"}
xref: MEDGEN:148341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014067 {source="MONDO:equivalentTo", source="DOID:8858", source="EFO:1001214"}
xref: NCIT:C4825 {source="EFO:1001214"}
xref: NCIT:C7404 {source="MONDO:equivalentTo", source="DOID:8858"}
xref: SCTID:187671001 {source="DOID:8858"}
xref: SCTID:187672008 {source="DOID:8858"}
xref: SCTID:187674009 {source="DOID:8858"}
xref: SCTID:363393007 {source="MONDO:equivalentTo", source="DOID:8858"}
xref: SCTID:93937006 {source="DOID:8858"}
xref: UMLS:C0751560 {source="MEDGEN:148341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004685 {source="MONDO:Redundant"} ! Waldeyer's ring cancer
is_a: MONDO:0021250 {source="MONDO:Redundant", source="NCIT:C7404"} ! tonsil neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002372 ! tonsil

[Term]
id: MONDO:0006999
name: tooth disorder
def: "A disease involving the calcareous tooth." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "calcareous tooth disease" EXACT [MONDO:patterns/location]
synonym: "calcareous tooth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "dental disorder" EXACT [DOID:1091]
synonym: "disease of calcareous tooth" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of calcareous tooth" EXACT []
synonym: "disorder of calcareous tooth" EXACT [MONDO:patterns/location_top]
synonym: "tooth disorder" EXACT [NCIT:C35077]
xref: DOID:1091 {source="MONDO:equivalentTo", source="EFO:1001216"}
xref: EFO:1001216 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:11852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014076 {source="MONDO:equivalentTo", source="DOID:1091"}
xref: MESH:DO14076 {source="EFO:1001216"}
xref: NCIT:C35077 {source="MONDO:equivalentTo"}
xref: SCTID:155631000 {source="DOID:1091"}
xref: SCTID:234947003 {source="MONDO:equivalentTo", source="DOID:1091", source="EFO:1001216"}
xref: SCTID:266485001 {source="DOID:1091"}
xref: SCTID:367503003 {source="DOID:1091"}
xref: SCTID:72722003 {source="DOID:1091"}
xref: UMLS:C0040435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11852"}
is_a: MONDO:0006858 {source="DOID:1091", source="EFO:1001216", source="NCIT:C35077/inferred"} ! mouth disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001091 ! calcareous tooth

[Term]
id: MONDO:0007000
name: Treponema infectious disease
def: "An disease caused by infection with Treponema." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: otar {source="MONDO:OTAR"}
synonym: "bejel" NARROW [MESH:D014211]
synonym: "Bejels" NARROW [MESH:D014211]
synonym: "infection, Treponemal" RELATED [MESH:D014211]
synonym: "infections, Treponemal" RELATED [MESH:D014211]
synonym: "Treponema caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Treponema disease or disorder" EXACT []
synonym: "Treponemal infection" RELATED [MESH:D014211]
xref: DOID:2265 {source="EFO:1001217", source="MONDO:obsolete"}
xref: EFO:1001217 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D014211 {source="MONDO:equivalentTo", source="EFO:1001217"}
xref: NCIT:C85197 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1001217", source="MESH:D014211/inferred", source="MONDO:Redundant", source="NCIT:C85197"} ! bacterial infectious disease
is_a: MONDO:0021678 {source="MESH:D014211"} ! gram-negative bacterial infections
is_a: MONDO:0021681 {source="NCIT:C85197"} ! sexually transmitted disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:157 ! Treponema

[Term]
id: MONDO:0007001
name: tricuspid valve prolapse
def: "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus." [MESH:D014263]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:95458"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tricuspid valve prolapse" EXACT [MONDO:ambiguous]
synonym: "tricuspid valve prolapse (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:5644 {source="MONDO:equivalentTo", source="EFO:1001218"}
xref: EFO:1001218 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001704 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q22.8 {source="Orphanet:95458", source="Orphanet:95458/ntbt"}
xref: MedDRA:10066862 {source="Orphanet:95458", source="Orphanet:95458/e"}
xref: MEDGEN:11912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014263 {source="DOID:5644", source="MONDO:equivalentTo", source="Orphanet:95458", source="Orphanet:95458/e", source="EFO:1001218"}
xref: Orphanet:95458 {source="MONDO:equivalentObsolete"}
xref: SCTID:253383003 {source="DOID:5644", source="MONDO:equivalentTo"}
xref: UMLS:C0040962 {source="MEDGEN:11912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000471 {source="DOID:5644"} ! tricuspid valve disorder
is_a: MONDO:0005561 {source="EFO:1001218"} ! aortic disorder
is_a: MONDO:0020289 {source="Orphanet:95458"} ! congenital tricuspid malformation
property_value: IAO:0000589 "tricuspid valve prolapse (disease)" xsd:string

[Term]
id: MONDO:0007002
name: trochlear nerve disorder
def: "A disease involving the trochlear nerve." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease of trochlear nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of trochlear nerve" EXACT []
synonym: "disorder of trochlear nerve" EXACT [DOID:13864, MONDO:patterns/location_top]
synonym: "IVth cranial nerve disorder" EXACT [NCIT:C78395]
synonym: "IVth nerve disorder" EXACT [NCIT:C78395]
synonym: "superior oblique muscle innervation disorder" EXACT [DOID:13864]
synonym: "trochlear nerve disease" EXACT [MONDO:patterns/location]
synonym: "trochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "trochlear nerve disorder" EXACT [NCIT:C78395]
synonym: "trochlear nerve disorder, NOS" RELATED EXCLUDE [DOID:13864]
xref: DOID:13864 {source="EFO:1001220", source="MONDO:equivalentTo"}
xref: ICD10CM:H49.1 {source="DOID:13864"}
xref: ICD9:378.53 {source="MONDO:relatedTo", source="DOID:13864"}
xref: MedDRA:10074765 {source="EFO:1001220"}
xref: MEDGEN:888203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020432 {source="EFO:1001220", source="MONDO:equivalentTo", source="DOID:13864"}
xref: NCIT:C78395 {source="MONDO:equivalentTo", source="DOID:13864"}
xref: SCTID:14904006 {source="DOID:13864"}
xref: SCTID:20610004 {source="MONDO:relatedTo", source="DOID:13864"}
xref: SCTID:230532006 {source="DOID:13864"}
xref: SCTID:246781001 {source="DOID:13864"}
xref: SCTID:67883005 {source="DOID:13864"}
xref: SCTID:6845000 {source="DOID:13864"}
xref: UMLS:C4048184 {source="MEDGEN:888203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003569 {source="DOID:13864", source="MESH:D020432", source="MONDO:Redundant", source="NCIT:C78395"} ! cranial nerve neuropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001644 ! trochlear nerve

[Term]
id: MONDO:0007003
name: obsolete twin-to-twin transfusion syndrome
is_obsolete: true
replaced_by: MONDO:0019805

[Term]
id: MONDO:0007004
name: type III hypersensitivity disease
def: "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." [MESH:D007105]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of type III hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "hypersensitivity reaction type III disease" RELATED [DOID:1557]
synonym: "immune complex disease" EXACT [DOID:1557]
synonym: "type 3 hypersensitivity reaction" EXACT [NCIT:C114346]
synonym: "type III hypersensitivity" EXACT [NCIT:C114346]
synonym: "type III hypersensitivity reaction" EXACT [NCIT:C114346]
xref: DOID:1557 {source="EFO:1001222", source="MONDO:equivalentTo"}
xref: EFO:1001222 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10045265 {source="EFO:1001222"}
xref: MEDGEN:7021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007105 {source="EFO:1001222", source="MONDO:equivalentTo", source="DOID:1557"}
xref: NCIT:C114346 {source="MONDO:equivalentTo"}
xref: UMLS:C0020951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7021"}
is_a: MONDO:0000605 {source="DOID:1557", source="EFO:1001222", source="MONDO:Entailed", source="NCIT:C114346"} ! hypersensitivity reaction disease
is_a: MONDO:0007179 ! autoimmune disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0001802 ! type III hypersensitivity

[Term]
id: MONDO:0007005
name: ulcerative proctosigmoiditis
def: "Inflammation of the rectum and the distal portion of the colon." [MESH:D011350]
subset: otar {source="MONDO:OTAR"}
xref: DOID:8775 {source="EFO:1001223", source="MONDO:obsolete"}
xref: EFO:1001223 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:556.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:540639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011350 {source="EFO:1001223"}
xref: SCTID:52506002 {source="MONDO:equivalentTo"}
xref: UMLS:C0267390 {source="MEDGEN:540639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="EFO:1001223"} ! inflammatory bowel disease

[Term]
id: MONDO:0007006
name: ulnar neuropathy
def: "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" [MESH:D020424]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mononeuropathy of ulnar nerve" EXACT [MONDO:design_pattern]
synonym: "ulnar nerve mononeuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "ulnar neuropathy" EXACT [DOID:4613]
synonym: "ulnar neuropathy (disorder) [ambiguous]" EXACT [DOID:4613]
xref: DOID:4613 {source="EFO:1001224", source="MONDO:equivalentTo"}
xref: EFO:1001224 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:57596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020424 {source="DOID:4613", source="EFO:1001224", source="MONDO:equivalentTo"}
xref: SCTID:359837005 {source="DOID:4613", source="EFO:1001224", source="MONDO:equivalentTo"}
xref: SCTID:367399005 {source="DOID:4613"}
xref: SCTID:394515001 {source="DOID:4613"}
xref: SCTID:395205004 {source="DOID:4613"}
xref: SCTID:55802003 {source="DOID:4613"}
xref: UMLS:C0154743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57596"}
is_a: MONDO:0001397 {source="DOID:4613", source="MESH:D020424", source="MONDO:Redundant"} ! mononeuropathy
intersection_of: MONDO:0001397 ! mononeuropathy
intersection_of: disease_has_location UBERON:0001494 ! ulnar nerve

[Term]
id: MONDO:0007007
name: Ureaplasma urethritis
def: "Infections with bacteria of the genus ureaplasma." [MESH:D016869]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, Ureaplasma" RELATED [MESH:D016869]
synonym: "infections, Ureaplasma" RELATED [MESH:D016869]
synonym: "Ureaplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Ureaplasma disease or disorder" EXACT []
synonym: "Ureaplasma infection" RELATED [MESH:D016869]
synonym: "Ureaplasma infectious disease" EXACT []
xref: DOID:3100 {source="EFO:1001225", source="MONDO:obsolete"}
xref: EFO:1001225 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1843394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016869 {source="MONDO:equivalentTo", source="EFO:1001225"}
xref: SCTID:51105006 {source="MONDO:equivalentTo", source="EFO:1001225"}
xref: UMLS:C0854510 {source="MEDGEN:1843394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1001225", source="MESH:D016869/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0005297 {source="https://orcid.org/0000-0002-6601-2165"} ! urethritis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2129 ! Ureaplasma

[Term]
id: MONDO:0007008
name: uremia
def: "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." [MESH:D014511]
subset: otar {source="MONDO:OTAR"}
synonym: "uremia of renal origin" EXACT [DOID:4676, MTH:NOCODE]
xref: DOID:4676 {source="MONDO:equivalentTo", source="EFO:1001226"}
xref: EFO:1001226 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N19 {source="DOID:4676"}
xref: MedDRA:10046369 {source="EFO:1001226"}
xref: MEDGEN:12008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014511 {source="DOID:4676", source="MONDO:equivalentTo", source="EFO:1001226"}
xref: SCTID:197656003 {source="DOID:4676"}
xref: SCTID:266616000 {source="DOID:4676"}
xref: SCTID:44730006 {source="DOID:4676", source="MONDO:equivalentTo", source="EFO:1001226"}
xref: UMLS:C0041948 {source="MEDGEN:12008", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001106 {source="DOID:4676"} ! kidney failure

[Term]
id: MONDO:0007009
name: ureterolithiasis
def: "The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "calculus of ureter" EXACT [DOID:14146, ICD9CM:592.1]
synonym: "ureteric calculus" EXACT [DOID:14146]
synonym: "ureteric stone" EXACT [DOID:14146]
xref: DOID:14146 {source="MONDO:equivalentTo", source="EFO:1001228"}
xref: EFO:1001228 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:592.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14146"}
xref: MEDGEN:21775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053039 {source="MONDO:equivalentTo", source="DOID:14146", source="EFO:1001228"}
xref: NCIT:C114696 {source="MONDO:equivalentTo", source="DOID:14146", source="EFO:1001228"}
xref: SCTID:31054009 {source="MONDO:equivalentTo", source="DOID:14146", source="EFO:1001228"}
xref: SCTID:95573009 {source="DOID:14146"}
xref: UMLS:C0041952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21775"}
is_a: MONDO:0001926 {source="DOID:14146", source="MESH:D053039", source="NCIT:C114696/inferred"} ! ureteral disorder
is_a: MONDO:0006026 {source="EFO:1001228"} ! urinary bladder disorder

[Term]
id: MONDO:0007010
name: obsolete uveitis
is_obsolete: true
replaced_by: MONDO:0020283

[Term]
id: MONDO:0007011
name: uveoparotid fever
def: "A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." [MESH:D014608]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Heerfordt's syndrome" EXACT [DOID:13404]
synonym: "uveoparotid fever" EXACT [DOID:13404]
xref: DOID:13404 {source="EFO:1001232", source="MONDO:equivalentTo"}
xref: EFO:1001232 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:D86.89 {source="DOID:13404"}
xref: MEDGEN:22600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014608 {source="DOID:13404", source="EFO:1001232", source="MONDO:equivalentTo"}
xref: SCTID:31541009 {source="DOID:13404", source="MONDO:directSiblingOf"}
xref: SCTID:4416007 {source="DOID:13404", source="EFO:1001232", source="MONDO:equivalentTo"}
xref: UMLS:C0042171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22600"}
is_a: MONDO:0019338 {source="DOID:13404", source="EFO:1001232", source="MESH:D014608"} ! sarcoidosis

[Term]
id: MONDO:0007012
name: variant Creutzfeldt-Jakob disease
def: "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy." [NCIT:C128438]
subset: gard_rare {source="GARD:9550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:576370"}
subset: orphanet_rare {source="Orphanet:576370"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "vCJD" EXACT [NCIT:C128438]
xref: DOID:5435 {source="EFO:1001233", source="MONDO:equivalentTo"}
xref: EFO:1001233 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9550 {source="MONDO:GARD"}
xref: ICD10CM:A81.01 {source="EFO:1001233", source="MONDO:equivalentTo"}
xref: icd11.foundation:378572696 {source="MONDO:equivalentTo", source="Orphanet:576370"}
xref: ICD9:046.11 {source="EFO:1001233", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10064199 {source="EFO:1001233"}
xref: MEDGEN:138163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016643 {source="EFO:1001233", source="DOID:5435", source="MONDO:directSiblingOf"}
xref: NANDO:1200194 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C128438 {source="MONDO:equivalentTo"}
xref: NCIT:C26802 {source="EFO:1001233", source="MONDO:directSiblingOf"}
xref: Orphanet:576370 {source="MONDO:equivalentTo"}
xref: SCTID:304603007 {source="EFO:1001233", source="MONDO:equivalentTo"}
xref: SCTID:52869003 {source="DOID:5435"}
xref: UMLS:C0376329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138163"}
is_a: MONDO:0018686 {source="Orphanet:576370"} ! acquired Creutzfeldt-Jakob disease
relationship: disease_has_location UBERON:0001016 {source="EFO:0000784"} ! nervous system
relationship: excluded_subClassOf MONDO:0005429 {source="DOID:5435", source="EFO:1001233", source="https://orcid.org/0000-0001-5208-3432"} ! prion disease

[Term]
id: MONDO:0007013
name: vasculogenic impotence
def: "Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." [MESH:D018783]
xref: DOID:4762 {source="MONDO:equivalentTo", source="EFO:1001234"}
xref: MEDGEN:69309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018783 {source="DOID:4762", source="MONDO:equivalentTo", source="EFO:1001234"}
xref: UMLS:C0243000 {source="MEDGEN:69309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005362 {source="DOID:4762", source="EFO:1001234", source="MESH:D018783"} ! erectile dysfunction

[Term]
id: MONDO:0007014
name: vibrio infectious disease
def: "Infections with bacteria of the genus vibrio." [MESH:D014735]
subset: otar {source="MONDO:OTAR"}
synonym: "Vibrio caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Vibrio disease or disorder" EXACT []
synonym: "Vibrio infectious disease" EXACT []
synonym: "vibrio infectious disease" EXACT []
xref: DOID:1499 {source="EFO:1001235", source="MONDO:obsolete"}
xref: EFO:1001235 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:53010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014735 {source="EFO:1001235", source="MONDO:equivalentTo"}
xref: UMLS:C0042636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:53010"}
is_a: MONDO:0005113 {source="EFO:1001235", source="MESH:D014735/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:662 ! Vibrio

[Term]
id: MONDO:0007015
name: viral meningitis
def: "Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:10310 {source="MONDO:equivalentTo", source="EFO:1001236"}
xref: EFO:1001236 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A87 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"}
xref: ICD10CM:A87.9 {source="DOID:10310"}
xref: ICD9:047.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:047.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10310"}
xref: ICD9:321.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10047469 {source="EFO:1001236"}
xref: MEDGEN:44355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008587 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"}
xref: NCIT:C118298 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"}
xref: SCTID:154321007 {source="DOID:10310"}
xref: SCTID:154984006 {source="DOID:10310"}
xref: SCTID:154985007 {source="DOID:10310"}
xref: SCTID:186490006 {source="DOID:10310"}
xref: SCTID:187403007 {source="DOID:10310"}
xref: SCTID:192672003 {source="DOID:10310"}
xref: SCTID:266097006 {source="DOID:10310"}
xref: SCTID:266190006 {source="DOID:10310"}
xref: SCTID:267575007 {source="DOID:10310"}
xref: SCTID:267680008 {source="DOID:10310"}
xref: SCTID:58170007 {source="MONDO:equivalentTo", source="EFO:1001236", source="DOID:10310"}
xref: UMLS:C0025297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44355"}
is_a: MONDO:0004796 {source="DOID:10310", source="EFO:1001236", source="MESH:D008587", source="NCIT:C118298"} ! infectious meningitis
is_a: MONDO:0006662 ! aseptic meningitis

[Term]
id: MONDO:0007016
name: vitamin A deficiency
def: "Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia." [NCIT:C85220]
subset: otar {source="MONDO:OTAR"}
synonym: "deficiencies, vitamin A" RELATED [MESH:D014802]
synonym: "deficiency, vitamin A" RELATED [MESH:D014802]
synonym: "vitamin A deficiencies" RELATED [MESH:D014802]
synonym: "vitamin A deficiency" EXACT [MONDO:ambiguous, NCIT:C85220]
synonym: "vitamin A deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10257 {source="EFO:1001237", source="MONDO:obsolete"}
xref: EFO:1001237 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0004905 {source="MONDO:otherHierarchy"}
xref: ICD9:264 {source="EFO:1001237"}
xref: ICD9:264.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:264.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10047586 {source="EFO:1001237"}
xref: MEDGEN:22668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014802 {source="MONDO:equivalentTo", source="EFO:1001237"}
xref: NCIT:C85220 {source="MONDO:equivalentTo", source="EFO:1001237"}
xref: SCTID:72000004 {source="MONDO:equivalentTo", source="EFO:1001237"}
xref: UMLS:C0042842 {source="MEDGEN:22668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005137 {source="EFO:1001237", source="MESH:D014802/inferred", source="MONDO:Redundant", source="NCIT:C85220/inferred"} ! nutritional disorder
is_a: MONDO:0024298 {source="MESH:D014802", source="NCIT:C85220"} ! vitamin deficiency disorder
property_value: IAO:0000589 "vitamin A deficiency (disease)" xsd:string

[Term]
id: MONDO:0007017
name: vitreous detachment
def: "Detachment of the vitreous humor from the retina." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "detachment Of vitreous" EXACT [NCIT:C50807]
synonym: "vitreous, detachment Of" EXACT [NCIT:C50807]
xref: DOID:9726 {source="MONDO:equivalentTo", source="EFO:1001238"}
xref: EFO:1001238 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H43.81 {source="DOID:9726"}
xref: MedDRA:10047650 {source="EFO:1001238"}
xref: MEDGEN:140839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020255 {source="DOID:9726", source="MONDO:equivalentTo", source="EFO:1001238"}
xref: NCIT:C50807 {source="DOID:9726", source="MONDO:equivalentTo", source="EFO:1001238"}
xref: SCTID:155202007 {source="DOID:9726"}
xref: SCTID:267747007 {source="DOID:9726"}
xref: SCTID:393583008 {source="DOID:9726"}
xref: SCTID:53772007 {source="DOID:9726", source="MONDO:equivalentTo", source="EFO:1001238"}
xref: UMLS:C0423361 {source="MONDO:equivalentTo", source="MEDGEN:140839", source="MONDO:MEDGEN"}
is_a: MONDO:0004860 {source="DOID:9726"} ! vitreous disorder
is_a: MONDO:0020246 {source="EFO:1001238"} ! inherited vitreoretinopathy

[Term]
id: MONDO:0007018
name: vulvitis
def: "Inflammation of the vulva. It is characterized by pruritus and painful urination." [MESH:D014847]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of mammalian vulva" EXACT []
synonym: "mammalian vulva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:3901 {source="MONDO:equivalentTo", source="EFO:1001239"}
xref: EFO:1001239 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N76.2 {source="DOID:3901"}
xref: MedDRA:10047780 {source="EFO:1001239"}
xref: MEDGEN:22690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014847 {source="MONDO:equivalentTo", source="EFO:1001239", source="DOID:3901"}
xref: SCTID:155981006 {source="DOID:3901"}
xref: SCTID:198214007 {source="DOID:3901"}
xref: SCTID:266586003 {source="DOID:3901"}
xref: SCTID:266655004 {source="DOID:3901"}
xref: SCTID:63144007 {source="MONDO:equivalentTo", source="EFO:1001239", source="DOID:3901"}
xref: UMLS:C0042996 {source="MONDO:equivalentTo", source="MEDGEN:22690", source="MONDO:MEDGEN"}
is_a: MONDO:0002187 {source="DOID:3901", source="MESH:D014847"} ! vulvar disease
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0007019
name: vulvovaginitis
def: "An inflammatory pathologic process that affects the vulva and the vagina." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Vulvo-vaginitis" EXACT [DOID:2273]
xref: DOID:2273 {source="EFO:1001240", source="MONDO:equivalentTo"}
xref: EFO:1001240 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N76.0 {source="DOID:2273"}
xref: MedDRA:10047794 {source="EFO:1001240"}
xref: MEDGEN:12129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014848 {source="EFO:1001240", source="MONDO:equivalentTo", source="DOID:2273"}
xref: NCIT:C35131 {source="EFO:1001240", source="MONDO:equivalentTo", source="DOID:2273"}
xref: SCTID:155981006 {source="DOID:2273"}
xref: SCTID:198215008 {source="DOID:2273"}
xref: SCTID:266655004 {source="DOID:2273"}
xref: SCTID:53277000 {source="EFO:1001240", source="MONDO:equivalentTo", source="DOID:2273"}
xref: UMLS:C0042998 {source="MEDGEN:12129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001433 {source="MESH:D014848/inferred", source="MONDO:Redundant"} ! vaginal disorder
is_a: MONDO:0007018 {source="MESH:D014848", source="MONDO:Redundant"} ! vulvitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina
intersection_of: disease_has_inflammation_site UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0007020
name: Wernicke encephalopathy
def: "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" [MESH:D014899]
synonym: "dementia due to thiamine deficiency" EXACT [Orphanet:97354]
synonym: "Wernicke's disease" EXACT [DOID:2384]
synonym: "Wernicke's encephalopathy" EXACT [DOID:2384]
xref: DOID:2384 {source="EFO:1001241", source="MONDO:equivalentTo"}
xref: ICD10CM:E51.2 {source="DOID:2384", source="MONDO:equivalentTo"}
xref: ICD9:265.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:53073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014899 {source="DOID:2384", source="EFO:1001241", source="MONDO:equivalentTo"}
xref: Orphanet:97354 {source="MONDO:equivalentObsolete"}
xref: SCTID:190626005 {source="DOID:2384"}
xref: SCTID:190627001 {source="DOID:2384"}
xref: SCTID:21007002 {source="DOID:2384", source="MONDO:equivalentTo"}
xref: UMLS:C0043121 {source="MEDGEN:53073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:2384", source="EFO:1001241", source="MESH:D014899/inferred"} ! brain disorder
is_a: MONDO:0021698 {source="MESH:D014899"} ! alcohol-related disorders

[Term]
id: MONDO:0007021
name: obsolete wheat allergic disease
def: "OBSOLETE. Allergic reaction to wheat that is triggered by the immune system." [EFO:1001243]
synonym: "allergic disease from wheat based food product" EXACT []
synonym: "allergy of wheat based food product" EXACT [MONDO:patterns/allergy]
synonym: "allergy to wheat" EXACT [DOID:3660]
synonym: "wheat allergic reaction" RELATED [DOID:3660]
synonym: "wheat allergy" RELATED [DOID:3660]
synonym: "wheat based food product allergic disease" EXACT [MONDO:patterns/environmental_stimulus]
xref: DOID:3660 {source="MONDO:obsoleteEquivalent", source="EFO:1001243"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D021182 {source="DOID:3660", source="MONDO:obsoleteEquivalent", source="EFO:1001243"}
xref: SCTID:420174000 {source="DOID:3660", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007022
name: xanthogranulomatous pyelonephritis
def: "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "xanthogranulomatous pyelonephritis" EXACT [DOID:11401]
xref: DOID:11401 {source="EFO:1001244", source="MONDO:equivalentTo"}
xref: EFO:1001244 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:582.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10074389 {source="EFO:1001244"}
xref: MEDGEN:19591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011705 {source="DOID:11401", source="EFO:1001244", source="MONDO:equivalentTo"}
xref: NCIT:C123038 {source="DOID:11401", source="MONDO:equivalentTo"}
xref: SCTID:197777006 {source="DOID:11401"}
xref: SCTID:38898003 {source="DOID:11401", source="EFO:1001244", source="MONDO:equivalentTo"}
xref: UMLS:C0034188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19591"}
is_a: MONDO:0001110 {source="DOID:11401"} ! chronic pyelonephritis
is_a: MONDO:0006939 {source="DOID:11401/inferred", source="EFO:1001244", source="MESH:D011705", source="MONDO:Redundant", source="NCIT:C123038"} ! pyelonephritis

[Term]
id: MONDO:0007023
name: Yersinia infectious disease
def: "Infections with bacteria of the genus yersinia." [MESH:D015009, Wikipedia:Yersiniosis]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, Yersinia" RELATED [MESH:D015009]
synonym: "infections, Yersinia" RELATED [MESH:D015009]
synonym: "infections, Yersinia <bacteria>" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Yersinia <bacteria> infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Yersinia infection" RELATED [MESH:D015009]
synonym: "yersiniosis" EXACT []
xref: DOID:3300 {source="EFO:1001245", source="MONDO:obsolete"}
xref: EFO:1001245 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D015009 {source="MONDO:equivalentTo", source="EFO:1001245"}
xref: NCIT:C128337 {source="MONDO:equivalentTo"}
xref: SCTID:83436008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1001245", source="MESH:D015009/inferred", source="MONDO:Redundant", source="NCIT:C128337"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:629 ! Yersinia <enterobacteria>

[Term]
id: MONDO:0007024
name: Yersinia pseudotuberculosis infectious disease
def: "Infections with bacteria of the species yersinia pseudotuberculosis." [MESH:D015012]
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Pasteurella pseudotuberculosis" RELATED []
synonym: "infection by Yersinia pseudotuberculosis" RELATED []
synonym: "infections, Yersinia pseudotuberculosis" EXACT [MESH:D015012]
synonym: "Pasteurella Pseudotuberculoses" RELATED [MESH:D015012]
synonym: "Pasteurella pseudotuberculosis" RELATED [MESH:D015012]
synonym: "Pseudotuberculoses, Pasteurella" RELATED [MESH:D015012]
synonym: "pseudotuberculosis" EXACT []
synonym: "pseudotuberculosis, Pasteurella" RELATED [MESH:D015012]
xref: DOID:3299 {source="EFO:1001246", source="MONDO:obsolete"}
xref: EFO:1001246 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:12190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015012 {source="EFO:1001246", source="MONDO:equivalentTo"}
xref: SCTID:36753006 {source="MONDO:equivalentTo"}
xref: UMLS:C0043410 {source="MEDGEN:12190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1001246", source="MESH:D015012/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0007023 {source="MESH:D015012", source="MONDO:Redundant"} ! Yersinia infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:633 ! Yersinia pseudotuberculosis

[Term]
id: MONDO:0007025
name: chancre
def: "The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection." [EFO:1001247]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1001247 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:671172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002601 {source="MONDO:equivalentTo", source="EFO:1001247"}
xref: UMLS:C0600049 {source="MEDGEN:671172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005976 {source="EFO:1001247", source="MESH:D002601"} ! syphilis

[Term]
id: MONDO:0007026
name: obsolete non-alcoholic fatty liver
is_obsolete: true
replaced_by: MONDO:0013209

[Term]
id: MONDO:0007027
name: metabolic dysfunction-associated steatohepatitis
def: "Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD)." [https://www.verywellhealth.com/non-alcoholic-steatohepatitis-nash-5196357#toc-symptoms]
subset: otar {source="MONDO:OTAR"}
synonym: "MASH" EXACT [https://www.verywellhealth.com/non-alcoholic-steatohepatitis-nash-5196357#toc-symptoms]
synonym: "NASH - nonalcoholic steatohepatitis" EXACT [NCIT:C84445]
synonym: "non-alcoholic steatohepatitis" EXACT [DOID:0080547]
synonym: "nonalcoholic steatohepatitis" EXACT [NCIT:C84445]
xref: DOID:0080547 {source="MONDO:equivalentTo"}
xref: EFO:1001249 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K75.81 {source="EFO:1001249"}
xref: MedDRA:10053219 {source="EFO:1001249"}
xref: MEDGEN:469032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84445 {source="MONDO:equivalentTo", source="EFO:1001249"}
xref: SCTID:442191002 {source="EFO:1001249"}
xref: UMLS:C3241937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:469032"}
is_a: MONDO:0002251 {source="NCIT:C84445"} ! hepatitis
is_a: MONDO:0004790 {source="EFO:1001249", source="MONDO:indirect"} ! fatty liver disease
is_a: MONDO:0013209 {source="EFO:1001249", source="NCIT:C84445"} ! metabolic dysfunction-associated steatotic liver disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6716" xsd:anyURI

[Term]
id: MONDO:0007028
name: rotator cuff syndrome
def: "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." [EFO:1001250]
subset: otar {source="MONDO:OTAR"}
synonym: "rotator cuff tear" RELATED []
xref: EFO:1001250 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M75.1 {source="MONDO:equivalentTo"}
xref: ICD10WHO:M75.1 {source="MONDO:equivalentTo"}
xref: ICD9:726.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:538186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:4106009 {source="MONDO:equivalentTo"}
xref: UMLS:C0263912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538186"}
xref: Wikipedia:Rotator_cuff_tear {source="EFO:1001250"}
is_a: MONDO:0020120 {source="EFO:1001250"} ! skeletal muscle disorder

[Term]
id: MONDO:0007029
name: branchio-oto-renal syndrome
def: "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." [Orphanet:107]
comment: (From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. {source="EFO:1001251"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10147", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:107"}
subset: ordo_malformation_syndrome {source="Orphanet:107"}
subset: orphanet_rare {source="Orphanet:107"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bor syndrome" RELATED [Orphanet:107]
synonym: "Branchio oto renal syndrome" RELATED [GARD:0010147]
synonym: "Branchio-Oto-renal syndrome" EXACT [DOID:14702, MTH:NOCODE]
synonym: "branchio-oto-renal syndrome" EXACT CLINGEN_LABEL []
synonym: "Branchio-otorenal dysplasia" EXACT [DOID:14702]
synonym: "branchiootorenal dysplasia" EXACT [DOID:14702]
synonym: "branchiootorenal syndrome" EXACT [Orphanet:107]
synonym: "Melnick-Fraser syndrome" EXACT [DOID:14702]
xref: DOID:14702 {source="EFO:1001251", source="MONDO:equivalentTo"}
xref: GARD:10147 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:107/attributed", source="Orphanet:107/ntbt", source="Orphanet:107"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071135 {source="Orphanet:107", source="Orphanet:107/e"}
xref: MEDGEN:82693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019280 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107", source="MONDO:equivalentTo", source="Orphanet:107/e"}
xref: NANDO:1200675 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98983 {source="DOID:14702", source="EFO:1001251", source="MONDO:equivalentTo"}
xref: OMIMPS:113650 {source="MONDO:equivalentTo"}
xref: Orphanet:107 {source="EFO:1001251", source="MONDO:equivalentTo"}
xref: SCTID:205806009 {source="DOID:14702", source="EFO:1001251"}
xref: SCTID:290006 {source="DOID:14702", source="EFO:1001251", source="MONDO:equivalentTo"}
xref: UMLS:C0265234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82693"}
xref: Wikipedia:Branchio-oto-renal_syndrome {source="EFO:1001251"}
is_a: MONDO:0000426 {source="DOID:14702", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98983"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:107"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:107", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_characteristic HP:0000006 {source="Orphanet:107"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:113650"} ! inherited

[Term]
id: MONDO:0007030
name: autosomal dominant Aarskog syndrome
comment: We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case)
subset: gard_rare {source="GARD:15029", source="MONDO:GARD"}
subset: nord_rare {source="NORD:702", source="MONDO:NORD"}
subset: rare
synonym: "Aarskog Syndrome" RELATED [NORD:702]
synonym: "Aarskog syndrome" RELATED [DOID:6683]
synonym: "Aarskog syndrome, autosomal dominant" RELATED [OMIM:100050]
synonym: "Aarskog-Scott syndrome" RELATED [DOID:6683]
synonym: "faciogenital dysplasia" RELATED [DOID:6683]
synonym: "Greig's syndrome" RELATED EXCLUDE [DOID:6683]
xref: DOID:0111825 {source="MONDO:equivalentTo"}
xref: GARD:15029 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="DOID:6683"}
xref: MEDGEN:460570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535331 {source="MONDO:directSiblingOf", source="DOID:6683"}
xref: NORD:702 {source="MONDO:NORD"}
xref: OMIM:100050 {source="MONDO:equivalentTo", source="DOID:6683"}
xref: Orphanet:915 {source="OMIM:100050", source="MONDO:directSiblingOf"}
xref: SCTID:14921002 {source="MONDO:directSiblingOf", source="DOID:6683"}
xref: SCTID:205809002 {source="DOID:6683"}
xref: UMLS:C3149220 {source="MEDGEN:460570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:6683"} ! autosomal dominant disease
is_a: MONDO:0021005 {source="https://orcid.org/0000-0002-6601-2165"} ! faciodigitogenital syndrome

[Term]
id: MONDO:0007031
name: familial abdominal aortic aneurysm
def: "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:9181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86"}
subset: orphanet_rare {source="Orphanet:86"}
subset: prototype_pattern
subset: rare
synonym: "aortic aneurysm, familial abdominal" EXACT [OMIMPS:100070]
synonym: "hereditary abdominal aortic aneurysm" EXACT [MONDO:patterns/hereditary]
xref: GARD:9181 {source="MONDO:GARD"}
xref: ICD10CM:I71.4 {source="Orphanet:86", source="Orphanet:86/attributed", source="Orphanet:86/ntbt"}
xref: MEDGEN:896628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:100070 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:86 {source="MONDO:equivalentTo", source="OMIM:100070"}
xref: SCTID:715364001 {source="MONDO:equivalentTo"}
xref: UMLS:C4275172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896628"}
is_a: MONDO:0005350 {source="DC-OMIM:100070", source="MONDO:Redundant"} ! abdominal aortic aneurysm
is_a: MONDO:0005385 {source="Orphanet:86"} ! vascular disorder
intersection_of: MONDO:0005350 ! abdominal aortic aneurysm
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:100070"} ! inherited

[Term]
id: MONDO:0007032
name: prune belly syndrome
def: "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." [Orphanet:2970]
subset: gard_rare {source="GARD:7479", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1623"}
subset: ordo_disorder {source="Orphanet:2970"}
subset: ordo_malformation_syndrome {source="Orphanet:2970"}
subset: orphanet_rare {source="Orphanet:2970"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abdominal muscle deficiency syndrome" EXACT [DOID:0060889, Orphanet:2970]
synonym: "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism" RELATED [OMIM:100100]
synonym: "eagle-Barret syndrome" EXACT [DOID:0060889, Orphanet:2970]
synonym: "eagle-Barrett syndrome" RELATED [OMIM:100100]
synonym: "Obrinsky syndrome" EXACT [Orphanet:2970]
synonym: "Obrisnksy syndrome" EXACT [DOID:0060889]
synonym: "PBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:100100]
synonym: "prune belly syndrome" EXACT [MONDO:Lexical, OMIM:100100]
synonym: "syndrome of agenesis of abdominal muscles" EXACT [NCIT:C85033]
synonym: "triad syndrome" EXACT [Orphanet:2970]
xref: DOID:0060889 {source="MONDO:equivalentTo"}
xref: GARD:7479 {source="MONDO:GARD"}
xref: ICD10CM:Q79.4 {source="Orphanet:2970/attributed", source="Orphanet:2970/ntbt", source="Orphanet:2970", source="DOID:0060889"}
xref: icd11.foundation:1393408621 {source="Orphanet:2970", source="MONDO:equivalentTo"}
xref: ICD9:756.71 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10051025 {source="Orphanet:2970", source="Orphanet:2970/e"}
xref: MEDGEN:18718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536477 {source="Orphanet:2970", source="Orphanet:2970/e", source="MONDO:directSiblingOf"}
xref: MESH:D011535 {source="Orphanet:2970", source="MONDO:equivalentTo", source="Orphanet:2970/e", source="DOID:0060889"}
xref: NANDO:2200185 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85033 {source="MONDO:equivalentTo"}
xref: NORD:1623 {source="MONDO:NORD"}
xref: OMIM:100100 {source="Orphanet:2970", source="MONDO:equivalentTo", source="Orphanet:2970/e", source="DOID:0060889"}
xref: Orphanet:2970 {source="MONDO:equivalentTo", source="OMIM:100100", source="DOID:0060889"}
xref: SCTID:5187006 {source="MONDO:equivalentTo"}
xref: UMLS:C0033770 {source="MEDGEN:18718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060889", source="MONDO:Redundant", source="NCIT:C85033"} ! syndromic disease
is_a: MONDO:0018559 {source="Orphanet:2970"} ! fetal lower urinary tract obstruction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1952 {source="MONDO:mim2gene_medgen"} ! CHRM3

[Term]
id: MONDO:0007033
name: abducens nerve palsy
def: "Paralysis of the abducens nerve." [NCIT:C27592]
synonym: "6th nerve palsy" RELATED [GARD:0009482]
synonym: "abducens nerve cranial nerve palsy" EXACT [MONDO:patterns/location]
synonym: "abducens nerve disease" RELATED [DOID:10865]
synonym: "abducens nerve disorder" RELATED EXCLUDE [DOID:10865]
synonym: "abducens nerve weakness" EXACT [DOID:10865]
synonym: "abducens palsy" RELATED [OMIM:100200]
synonym: "abducent nerve paralysis" EXACT [NCIT:C27592]
synonym: "cranial mononeuropathy VI" RELATED [GARD:0009482]
synonym: "cranial nerve palsy of abducens nerve" EXACT [MONDO:design_pattern]
synonym: "cranial nerve VI palsy" RELATED [GARD:0009482]
synonym: "disorder of abducent nerve" EXACT [DOID:10865]
synonym: "lateral rectus muscle denervation paresis" EXACT [DOID:10865]
synonym: "lateral rectus muscle innervation disorder" EXACT [DOID:10865]
synonym: "sixth cranial nerve disorder" EXACT [DOID:10865]
synonym: "sixth cranial nerve disorder, NOS" RELATED EXCLUDE [DOID:10865]
synonym: "sixth cranial nerve palsy" RELATED [GARD:0009482]
synonym: "sixth nerve palsy" EXACT [DOID:10865, GARD:0009482]
synonym: "sixth nerve paralysis" EXACT [NCIT:C27592]
synonym: "sixth or abducens nerve palsy" EXACT [DOID:10865, ICD9CM:378.54]
synonym: "VI nerve palsy" RELATED [GARD:0009482]
synonym: "VIth nerve disorder" BROAD [DOID:10865, NCIT:C27593]
synonym: "VIth nerve paralysis" EXACT [DOID:10865, NCIT:C27592]
xref: DOID:10865 {source="MONDO:equivalentTo"}
xref: ICD10CM:H49.2 {source="DOID:10865"}
xref: ICD9:378.54 {source="DOID:10865"}
xref: MEDGEN:1645218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020434 {source="DOID:10865"}
xref: NCIT:C27592 {source="DOID:10865", source="MONDO:equivalentTo"}
xref: NCIT:C27593 {source="DOID:10865"}
xref: OMIM:100200 {source="DOID:10865", source="MONDO:equivalentTo"}
xref: SCTID:14720007 {source="DOID:10865"}
xref: SCTID:230533001 {source="DOID:10865"}
xref: SCTID:398760006 {source="DOID:10865"}
xref: SCTID:398925009 {source="DOID:10865"}
xref: SCTID:398963001 {source="DOID:10865", source="MONDO:equivalentTo"}
xref: SCTID:46587002 {source="DOID:10865"}
xref: SCTID:4892003 {source="DOID:10865"}
xref: SCTID:82373004 {source="DOID:10865"}
xref: UMLS:C4551519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645218"}
is_a: MONDO:0002782 {source="DOID:10865", source="MONDO:Redundant", source="NCIT:C27592"} ! cranial nerve palsy
is_a: MONDO:0003620 {source="DOID:10865/inferred", source="MONDO:Redundant"} ! peripheral nervous system disorder
intersection_of: MONDO:0002782 ! cranial nerve palsy
intersection_of: disease_has_location UBERON:0001646 ! abducens nerve

[Term]
id: MONDO:0007034
name: Adams-Oliver syndrome
def: "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." [Orphanet:974]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5739", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:731"}
subset: ordo_disorder {source="Orphanet:974"}
subset: ordo_malformation_syndrome {source="Orphanet:974"}
subset: orphanet_rare {source="Orphanet:974"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adams Oliver syndrome" EXACT [DOID:0060227]
synonym: "AOS" EXACT ABBREVIATION [Orphanet:974]
synonym: "congenital scalp defects with distal limb anomalies" EXACT [Orphanet:974]
synonym: "congenital scalp defects with distal limb reduction anomalies" EXACT [Orphanet:974]
synonym: "limb scalp and skull defects" RELATED [GARD:0005739]
synonym: "limb, scalp and skull defects" EXACT [Orphanet:974]
xref: DOID:0060227 {source="MONDO:equivalentTo"}
xref: GARD:5739 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:974/attributed", source="Orphanet:974/ntbt", source="Orphanet:974"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538225 {source="Orphanet:974", source="MONDO:equivalentTo", source="DOID:0060227", source="Orphanet:974/e"}
xref: NORD:731 {source="MONDO:NORD"}
xref: OMIMPS:100300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:974 {source="MONDO:equivalentTo", source="OMIM:100300"}
xref: SCTID:34748004 {source="MONDO:equivalentTo", source="DOID:0060227"}
xref: UMLS:C0265268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78544"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0019294 {source="Orphanet:974", source="https://orcid.org/0000-0001-5208-3432"} ! mixed dermis disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:100300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome" xsd:anyURI {source="GARD:0005739"}

[Term]
id: MONDO:0007035
name: acanthosis nigricans
def: "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acanthosis nigricans" EXACT [MONDO:ambiguous, OMIM:100600]
synonym: "acanthosis nigricans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "an - acanthosis nigricans" EXACT [DOID:3138]
synonym: "keratosis nigricans" EXACT [DOID:3138]
xref: DOID:3138 {source="EFO:1000660", source="MONDO:equivalentTo"}
xref: EFO:1000660 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000956 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L83 {source="MONDO:equivalentTo", source="DOID:3138"}
xref: MEDGEN:54 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000052 {source="MONDO:equivalentTo", source="DOID:3138"}
xref: NCIT:C26687 {source="MONDO:equivalentTo", source="DOID:3138"}
xref: Orphanet:924 {source="MONDO:equivalentObsolete", source="OMIM:100600"}
xref: SCTID:402599005 {source="MONDO:equivalentTo", source="DOID:3138"}
xref: SCTID:72129000 {source="DOID:3138"}
xref: UMLS:C0000889 {source="MEDGEN:54", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Acanthosis_nigricans {source="EFO:1000660"}
is_a: MONDO:0002406 {source="NCIT:C26687"} ! dermatitis
property_value: IAO:0000589 "acanthosis nigricans (disease)" xsd:string

[Term]
id: MONDO:0007036
name: Achard syndrome
def: "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." [NCIT:P378]
synonym: "Achard syndrome" EXACT [OMIM:100700]
synonym: "arachnodactyly, receding lower jaw and joint laxity of hands/feet" RELATED [GARD:0008176]
xref: DOID:6686 {source="MONDO:equivalentTo"}
xref: MEDGEN:272277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536012 {source="DOID:6686", source="MONDO:equivalentTo"}
xref: NCIT:C35809 {source="DOID:6686", source="MONDO:equivalentTo"}
xref: OMIM:100700 {source="DOID:6686", source="MONDO:equivalentTo"}
xref: UMLS:C1332135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272277"}
is_a: MONDO:0002254 {source="DOID:6686", source="NCIT:C35809"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8176/achard-syndrome" xsd:anyURI {source="GARD:0008176"}

[Term]
id: MONDO:0007037
name: Achondroplasia
def: "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." [Orphanet:15]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8173", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:711"}
subset: ordo_disorder {source="Orphanet:15"}
subset: orphanet_rare {source="Orphanet:15"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:100800]
synonym: "Achondroplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:100800]
synonym: "Achondroplastic dwarfism" RELATED [GARD:0008173]
synonym: "Achondroplastic physique" EXACT [DOID:4480]
synonym: "chondrodystrophia" EXACT [DOID:4480]
synonym: "osteosclerosis congenita" EXACT EXCLUDE [DOID:4480]
xref: DOID:4480 {source="MONDO:equivalentTo"}
xref: GARD:8173 {source="MONDO:GARD"}
xref: ICD10CM:Q77.4 {source="MONDO:equivalentTo", source="Orphanet:15", source="Orphanet:15/specific", source="DOID:4480", source="Orphanet:15/e"}
xref: icd11.foundation:24224082 {source="MONDO:equivalentTo", source="Orphanet:15"}
xref: MedDRA:10000452 {source="Orphanet:15", source="Orphanet:15/e"}
xref: MEDGEN:1289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000130 {source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480", source="Orphanet:15/e"}
xref: NANDO:1200877 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201009 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34345 {source="MONDO:equivalentTo", source="DOID:4480"}
xref: NORD:711 {source="MONDO:NORD"}
xref: OMIM:100800 {source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480", source="Orphanet:15/e"}
xref: Orphanet:15 {source="MONDO:equivalentTo", source="OMIM:100800"}
xref: SCTID:190584003 {source="DOID:4480"}
xref: SCTID:205467007 {source="DOID:4480"}
xref: SCTID:248299001 {source="DOID:4480"}
xref: SCTID:268273004 {source="DOID:4480"}
xref: SCTID:268350005 {source="DOID:4480"}
xref: SCTID:86268005 {source="MONDO:equivalentTo", source="DOID:4480"}
xref: UMLS:C0001080 {source="MEDGEN:1289", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="DOID:4480", source="MESH:D000130"} ! osteochondrodysplasia
is_a: MONDO:0019685 {source="Orphanet:15", source="PMID:31633310"} ! FGFR3-related chondrodysplasia
relationship: disease_has_feature HP:0003510 ! Severe short stature
relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:15", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8173/achondroplasia" xsd:anyURI {source="GARD:0008173"}

[Term]
id: MONDO:0007038
name: Achoo syndrome
synonym: "Achoo syndrome" EXACT [GARD:0010036, OMIM:100820]
synonym: "autosomal dominant compelling helio ophthalmic outburst syndrome" RELATED [GARD:0010036]
synonym: "autosomal dominant compelling Helioophthalmic outburst syndrome" RELATED [OMIM:100820]
synonym: "Peroutka sneeze" RELATED [OMIM:100820]
synonym: "photic sneeze reflex" RELATED [OMIM:100820]
synonym: "sneezing from Light exposure" RELATED [OMIM:100820]
xref: MEDGEN:400287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535300 {source="MONDO:equivalentTo"}
xref: OMIM:100820 {source="MONDO:equivalentTo"}
xref: UMLS:C1863416 {source="MEDGEN:400287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007039
name: neurofibromatosis type 2
def: "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." [Orphanet:637]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7193", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:637"}
subset: orphanet_rare {source="Orphanet:637"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acoustic neurinoma bilateral" RELATED [GARD:0007193]
synonym: "acoustic neurinoma, bilateral" RELATED [OMIM:101000]
synonym: "acoustic neurofibromatosis" BROAD [NCIT:C3274]
synonym: "acoustic schwannomas bilateral" RELATED [GARD:0007193]
synonym: "acoustic Schwannomas, bilateral" RELATED [OMIM:101000]
synonym: "bilateral acoustic neurofibromatosis" EXACT [NCIT:C3274, OMIM:101000, Orphanet:637]
synonym: "central neurofibromatosis" EXACT [NCIT:C3274, Orphanet:637]
synonym: "full neurofibromatosis type 2" EXACT [Orphanet:637, PMID:20301380]
synonym: "full NF2" EXACT [Orphanet:637, PMID:20301380]
synonym: "neurofibromatosis 2" EXACT [NCIT:C3274]
synonym: "neurofibromatosis central type" RELATED [GARD:0007193]
synonym: "neurofibromatosis type 2" EXACT CLINGEN_LABEL [NCIT:C3274]
synonym: "neurofibromatosis type II" RELATED [GARD:0007193]
synonym: "neurofibromatosis, central type" RELATED [OMIM:101000]
synonym: "neurofibromatosis, type 2" RELATED [OMIM:101000]
synonym: "neurofibromatosis, type II" RELATED [MONDO:Lexical, OMIM:101000]
synonym: "NF2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3274, OMIM:101000, Orphanet:637]
synonym: "NF2-related schwannomatosis" EXACT [Orphanet:637, PMID:20301380]
synonym: "nonmosaic neurofibromatosis type 2" EXACT [Orphanet:637, PMID:20301380]
synonym: "nonmosaic NF2-related schwannomatosis" EXACT [Orphanet:637, PMID:20301380]
xref: DOID:0111252 {source="MONDO:equivalentTo"}
xref: GARD:7193 {source="MONDO:GARD"}
xref: ICD10CM:Q85.0 {source="Orphanet:637", source="Orphanet:637/attributed", source="Orphanet:637/ntbt"}
xref: ICD10CM:Q85.02 {source="MONDO:equivalentTo"}
xref: icd11.foundation:14808714 {source="MONDO:equivalentTo", source="Orphanet:637"}
xref: ICD9:237.72 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10000523 {source="Orphanet:637", source="Orphanet:637/e"}
xref: MedDRA:10029271 {source="Orphanet:637", source="Orphanet:637/e"}
xref: MEDGEN:18014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009464 {source="MONDO:relatedTo", source="Orphanet:637", source="Orphanet:637/e"}
xref: MESH:D016518 {source="Orphanet:637", source="Orphanet:637/e"}
xref: NANDO:1200227 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3274 {source="MONDO:equivalentTo"}
xref: OMIM:101000 {source="MONDO:equivalentTo", source="Orphanet:637", source="Orphanet:637/e"}
xref: Orphanet:637 {source="OMIM:101000", source="MONDO:equivalentTo"}
xref: SCTID:92503002 {source="MONDO:equivalentTo"}
xref: UMLS:C0027832 {source="MEDGEN:18014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021061 {source="NCIT:C3274"} ! neurofibromatosis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:101000", source="Orphanet:637"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7773 {source="MONDO:mim2gene_medgen"} ! NF2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7834" xsd:anyURI

[Term]
id: MONDO:0007040
name: Sakati-Nyhan syndrome
def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." [DOID:0060359, Wikipedia:Sakati–Nyhan–Tisdale_syndrome]
subset: gard_rare {source="GARD:115", source="MONDO:GARD"}
subset: rare
synonym: "ACPS 3" RELATED [GARD:0000115, OMIM:101120]
synonym: "ACPS with leg hypoplasia" EXACT [DOID:0060359]
synonym: "ACPS3" RELATED ABBREVIATION [GARD:0000115]
synonym: "acrocephalopolysyndactyly type 3" EXACT [DOID:0060359, GARD:0000115]
synonym: "acrocephalopolysyndactyly type III" EXACT [DOID:0060359, OMIM:101120]
synonym: "Sakati syndrome" RELATED [GARD:0000115]
synonym: "Sakati-Nyhan syndrome" EXACT [GARD:0000115, OMIM:101120]
synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT [DOID:0060359]
xref: DOID:0060359 {source="MONDO:equivalentTo"}
xref: GARD:115 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="DOID:0060359"}
xref: MEDGEN:220889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537227 {source="MONDO:equivalentTo", source="DOID:0060359"}
xref: OMIM:101120 {source="MONDO:equivalentTo", source="GARD:0000115", source="DOID:0060359"}
xref: Orphanet:3128 {source="MONDO:equivalentObsolete", source="OMIM:101120", source="GARD:0000115", source="DOID:0060359"}
xref: SCTID:403768004 {source="MONDO:equivalentTo"}
xref: UMLS:C1275079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220889"}
is_a: MONDO:0000078 {source="DC-OMIM:101120", source="Wikipedia:Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome"} ! acrocephalopolysyndactyly
is_a: MONDO:0019796 {source="DOID:0060359"} ! acrocephalosyndactyly

[Term]
id: MONDO:0007041
name: Apert syndrome
def: "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." [Orphanet:87]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5833", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:793"}
subset: ordo_disorder {source="Orphanet:87"}
subset: ordo_malformation_syndrome {source="Orphanet:87"}
subset: orphanet_rare {source="Orphanet:87"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrocephalo-syndactyly type 1" RELATED [GARD:0005833]
synonym: "acrocephalosyndactyly type 1" EXACT [Orphanet:87]
synonym: "acrocephalosyndactyly type I" EXACT [NCIT:C99099]
synonym: "acrocephalosyndactyly, type 1" RELATED [OMIM:101200]
synonym: "acrocephalosyndactyly, type 2" RELATED [OMIM:101200]
synonym: "ACS 1" RELATED [OMIM:101200]
synonym: "ACS 2" RELATED [OMIM:101200]
synonym: "ACS1" EXACT ABBREVIATION [Orphanet:87]
synonym: "Apert syndrome" EXACT [OMIM:101200]
synonym: "Apert-Crouzon disease" RELATED [OMIM:101200]
synonym: "syndactylic oxycephaly" RELATED [GARD:0005833]
synonym: "type I Acrocephalosyndactyly" EXACT [NCIT:C99099]
synonym: "Vogt Cephalodactyly" RELATED [OMIM:101200]
xref: GARD:5833 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:87", source="Orphanet:87/ntbt", source="Orphanet:87/inclusion"}
xref: icd11.foundation:1962779847 {source="Orphanet:87", source="MONDO:equivalentTo"}
xref: MedDRA:10002943 {source="Orphanet:87", source="Orphanet:87/e"}
xref: MEDGEN:7858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000168 {source="Orphanet:87", source="MONDO:equivalentTo", source="Orphanet:87/e"}
xref: NANDO:1200667 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200844 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99099 {source="MONDO:equivalentTo"}
xref: NORD:793 {source="MONDO:NORD"}
xref: OMIM:101200 {source="Orphanet:87", source="MONDO:equivalentTo", source="Orphanet:87/e"}
xref: Orphanet:87 {source="MONDO:equivalentTo", source="OMIM:101200"}
xref: SCTID:205258009 {source="MONDO:equivalentTo"}
xref: UMLS:C0001193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7858"}
is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0019796 {source="NCIT:C99099", source="Orphanet:87"} ! acrocephalosyndactyly
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI

[Term]
id: MONDO:0007042
name: Saethre-Chotzen syndrome
def: "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." [Orphanet:794]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1686"}
subset: ordo_disorder {source="Orphanet:794"}
subset: ordo_malformation_syndrome {source="Orphanet:794"}
subset: orphanet_rare {source="Orphanet:794"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrocephalo-syndactyly, type 3" RELATED [GARD:0007598]
synonym: "acrocephalosyndactyly type 3" EXACT [Orphanet:794]
synonym: "acrocephalosyndactyly type III" RELATED [DOID:14768]
synonym: "acrocephalosyndactyly, type 3" RELATED [OMIM:101400]
synonym: "acrocephaly, skull asymmetry, and mild syndactyly" RELATED [OMIM:101400]
synonym: "ACS 3" RELATED [OMIM:101400]
synonym: "ACS3" EXACT ABBREVIATION [Orphanet:794]
synonym: "blepharophimosis, epicanthus inversus, and ptosis 3" RELATED DEPRECATED [OMIM:101400]
synonym: "blepharophimosis, epicanthus inversus, and ptosis 3, formerly" RELATED DEPRECATED [OMIM:101400]
synonym: "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)" RELATED DEPRECATED [GARD:0007598]
synonym: "Chotzen syndrome" RELATED [OMIM:101400]
synonym: "Saethre Chotzen Syndrome" EXACT [NORD:1686]
synonym: "Saethre-Chotzen syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:101400]
synonym: "Saethre-Chotzen syndrome with eyelid anomalies" RELATED [OMIM:101400]
synonym: "Saethre-Chotzen syndrome with or without eyelid anomalies" EXACT [OMIM:101400, OMIM:genemap2]
synonym: "SCS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:101400, Orphanet:794]
synonym: "type III Acrocephalosyndactyly" EXACT [NCIT:C75034]
xref: DOID:14768 {source="MONDO:equivalentTo"}
xref: GARD:7598 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:794/attributed", source="Orphanet:794/ntbt", source="Orphanet:794"}
xref: MEDGEN:64221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000168 {source="DOID:14768", source="MONDO:directSiblingOf"}
xref: NANDO:2200848 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75034 {source="DOID:14768", source="MONDO:equivalentTo"}
xref: NORD:1686 {source="MONDO:NORD"}
xref: OMIM:101400 {source="DOID:14768", source="Orphanet:794/e", source="MONDO:equivalentTo", source="Orphanet:794"}
xref: Orphanet:794 {source="MONDO:equivalentTo", source="OMIM:101400"}
xref: SCTID:390726000 {source="DOID:14768"}
xref: SCTID:390746005 {source="DOID:14768"}
xref: SCTID:83015004 {source="DOID:14768", source="MONDO:equivalentTo"}
xref: UMLS:C0175699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64221"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0019796 {source="DOID:14768", source="NCIT:C75034", source="Orphanet:794"} ! acrocephalosyndactyly
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome" xsd:anyURI {source="GARD:0007598"}

[Term]
id: MONDO:0007043
name: Pfeiffer syndrome
def: "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." [Orphanet:710]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1572"}
subset: ordo_disorder {source="Orphanet:710"}
subset: ordo_malformation_syndrome {source="Orphanet:710"}
subset: orphanet_rare {source="Orphanet:710"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrocephalosyndactylia type V" EXACT [DOID:14705]
synonym: "acrocephalosyndactyly type 5" EXACT [Orphanet:710]
synonym: "acrocephalosyndactyly type V" EXACT [NCIT:C99100]
synonym: "acrocephalosyndactyly, type 5" RELATED [OMIM:101600]
synonym: "ACS 5" RELATED [OMIM:101600]
synonym: "ACS5" EXACT ABBREVIATION [Orphanet:710]
synonym: "craniofacial-skeletal-Dermatologic dysplasia" RELATED [OMIM:101600]
synonym: "Noack syndrome" RELATED [OMIM:101600, Wikipedia:Acrocephalosyndactylia]
synonym: "Pfeiffer syndrome" EXACT [OMIM:101600]
synonym: "Pfeiffer type acrocephalosyndactyly" RELATED [GARD:0007380]
synonym: "type V Acrocephalosyndactyly" EXACT [NCIT:C99100]
xref: DOID:14705 {source="MONDO:equivalentTo"}
xref: GARD:7380 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:710/attributed", source="Orphanet:710/ntbt", source="Orphanet:710"}
xref: icd11.foundation:1075159878 {source="Orphanet:710", source="MONDO:equivalentTo"}
xref: MEDGEN:67390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538582 {source="Orphanet:710", source="Orphanet:710/e"}
xref: MESH:D000168 {source="DOID:14705", source="MONDO:directSiblingOf"}
xref: NANDO:1200668 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200976 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99100 {source="DOID:14705", source="MONDO:equivalentTo"}
xref: NORD:1572 {source="MONDO:NORD"}
xref: OMIM:101600 {source="Orphanet:710", source="DOID:14705", source="MONDO:equivalentTo", source="Orphanet:710/e"}
xref: Orphanet:710 {source="MONDO:equivalentTo", source="OMIM:101600"}
xref: SCTID:70410008 {source="DOID:14705", source="MONDO:equivalentTo"}
xref: UMLS:C0220658 {source="MEDGEN:67390", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000078 {source="Wikipedia:Acrocephalosyndactylia"} ! acrocephalopolysyndactyly
is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0019796 {source="DOID:14705", source="NCIT:C99100", source="Orphanet:710"} ! acrocephalosyndactyly
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome" xsd:anyURI {source="GARD:0007380"}

[Term]
id: MONDO:0007044
name: Acrodysostosis 1 with or without hormone resistance
def: "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding." [NCIT:C136464]
subset: gard_rare {source="GARD:15030", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACRDYS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:101800]
synonym: "Acrodysostosis 1" EXACT [NCIT:C136464]
synonym: "Acrodysostosis 1 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:101800]
synonym: "Acrodysostosis 1, with or without hormone resistance" EXACT [OMIM:101800, OMIM:genemap2]
synonym: "ADOHR" EXACT ABBREVIATION [OMIM:101800]
xref: GARD:15030 {source="MONDO:GARD"}
xref: MEDGEN:477858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C136464 {source="MONDO:equivalentTo"}
xref: OMIM:101800 {source="MONDO:equivalentTo"}
xref: Orphanet:280651 {source="OMIM:101800"}
xref: Orphanet:950 {source="OMIM:101800"}
xref: UMLS:C3276228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477858"}
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
is_a: MONDO:0019797 {source="DC-OMIM:101800", source="OMIM:101800"} ! acrodysostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 {source="MONDO:mim2gene_medgen"} ! PRKAR1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI

[Term]
id: MONDO:0007045
name: acrofacial dysostosis, Catania type
def: "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." [Orphanet:1786]
subset: gard_rare {source="GARD:494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1786"}
subset: ordo_malformation_syndrome {source="Orphanet:1786"}
subset: orphanet_rare {source="Orphanet:1786"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrofacial dysostosis Catania type" RELATED [GARD:0000494]
synonym: "acrofacial dysostosis, Catania type" EXACT [OMIM:101805]
synonym: "AFD Catania type" RELATED [GARD:0000494]
synonym: "Afd, Catania type" RELATED [OMIM:101805]
synonym: "Opitz Mollica Sorge syndrome" EXACT [DOID:0060384]
synonym: "Opitz-Caltabiano syndrome" EXACT [DOID:0060384, Orphanet:1786]
xref: DOID:0060384 {source="MONDO:equivalentTo"}
xref: GARD:494 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:1786", source="Orphanet:1786/attributed", source="Orphanet:1786/ntbt"}
xref: MEDGEN:419487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538182 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"}
xref: OMIM:101805 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"}
xref: Orphanet:1786 {source="DOID:0060384", source="OMIM:101805", source="MONDO:equivalentTo"}
xref: SCTID:720419000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419487"}
is_a: MONDO:0015159 {source="Orphanet:1786"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018237 {source="DC-OMIM:101805", source="DOID:0060384", source="Orphanet:1786"} ! acrofacial dysostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1786", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0007046
name: hereditary papulotranslucent acrokeratoderma
def: "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." [EFO:1000708]
subset: otar {source="MONDO:OTAR"}
synonym: "acrokeratoderma, hereditary papulotranslucent" RELATED [OMIM:101840]
xref: DOID:0060360 {source="EFO:1000708", source="MONDO:equivalentTo"}
xref: EFO:1000708 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:350144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566323 {source="MONDO:equivalentTo", source="DOID:0060360"}
xref: OMIM:101840 {source="MONDO:equivalentTo", source="DOID:0060360"}
xref: UMLS:C1863343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350144"}
is_a: MONDO:0003847 {source="OMIM:101840"} ! hereditary disease
is_a: MONDO:0006566 {source="DOID:0060360/inferred", source="MESH:C566323"} ! keratosis
relationship: excluded_subClassOf MONDO:0006530 {source="DOID:0060360", source="https://orcid.org/0000-0001-5208-3432"} ! cholesteatoma

[Term]
id: MONDO:0007047
name: punctate palmoplantar keratoderma type III
def: "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later" [Orphanet:38]
comment: Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3
subset: gard_rare {source="GARD:125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:38"}
subset: orphanet_rare {source="Orphanet:38"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrokeratoelastoidosis" RELATED [OMIM:101850]
synonym: "acrokeratoelastoidosis of Costa" EXACT [DOID:0060362]
synonym: "aganglionosis, total colonic" RELATED [GARD:0000133]
synonym: "ake" EXACT [Orphanet:38]
synonym: "collagenous plaques of hand and feet" RELATED [GARD:0000125]
synonym: "collagenous plaques of hands and feet" RELATED [OMIM:101850]
synonym: "keratoderma, palmoplantar, punctate type 3" EXACT [OMIM:101850, OMIM:genemap2]
synonym: "near-total intestinal aganglionosis" RELATED [GARD:0000133]
synonym: "NTIA" RELATED ABBREVIATION [GARD:0000133]
synonym: "palmoplantar keratoderma, punctate type 3" RELATED [GARD:0000125]
synonym: "palmoplantar keratoderma, punctate type III" RELATED [MONDO:Lexical, OMIM:101850]
synonym: "PPKP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:101850, Orphanet:38]
synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT [DOID:0060362, Orphanet:38]
synonym: "punctate palmoplantar keratoderma type 3" EXACT [DOID:0060362, Orphanet:38]
synonym: "rare form of Hirschsprung's disease" RELATED [GARD:0000133]
synonym: "TIA" RELATED ABBREVIATION [GARD:0000133]
xref: DOID:0060362 {source="MONDO:equivalentTo", source="EFO:1000758"}
xref: EFO:1000758 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:125 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:38", source="Orphanet:38/attributed", source="Orphanet:38/ntbt"}
xref: MEDGEN:107467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535653 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="Orphanet:38/e"}
xref: OMIM:101850 {source="DOID:0060362", source="MONDO:equivalentTo", source="Orphanet:38", source="Orphanet:38/e"}
xref: Orphanet:38 {source="DOID:0060362", source="MONDO:equivalentTo", source="OMIM:101850"}
xref: Orphanet:99740 {source="GARD:0000133"}
xref: SCTID:111029001 {source="DOID:0060362"}
xref: UMLS:C0545044 {source="MEDGEN:107467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017675 {source="DOID:0060362", source="https://orcid.org/0000-0001-5208-3432"} ! punctate palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0016436 {source="Orphanet:38", source="https://github.com/Orphanet/ORDO/issues/3", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acquired dermis elastic tissue disorder with increased elastic tissue
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007048
name: acrokeratosis verruciformis
def: "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." [NCIT:C27519]
subset: gard_rare {source="GARD:16707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79151"}
subset: orphanet_rare {source="Orphanet:79151"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrokeratosis verruciformis" EXACT [MONDO:Lexical, OMIM:101900]
synonym: "acrokeratosis verruciformis of Hopf" EXACT [DOID:0050606]
synonym: "AKV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:101900]
synonym: "AKV of Hopf" EXACT [Orphanet:79151]
synonym: "Hopf disease" EXACT [DOID:0050606, OMIM:101900]
xref: DOID:0050606 {source="MONDO:equivalentTo", source="EFO:1000666"}
xref: EFO:1000666 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16707 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:79151", source="Orphanet:79151/attributed", source="Orphanet:79151/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069445 {source="Orphanet:79151", source="Orphanet:79151/e"}
xref: MEDGEN:75589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27519 {source="MONDO:equivalentTo"}
xref: OMIM:101900 {source="MONDO:equivalentTo", source="Orphanet:79151", source="Orphanet:79151/e", source="DOID:0050606"}
xref: Orphanet:79151 {source="MONDO:equivalentTo", source="OMIM:101900"}
xref: SCTID:400085009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265971 {source="MEDGEN:75589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:79151", source="Orphanet:79151/inferred"} ! disease
is_a: MONDO:0006566 {source="DOID:0050606", source="EFO:1000666"} ! keratosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/812 {source="MONDO:mim2gene_medgen"} ! ATP2A2

[Term]
id: MONDO:0007049
name: acroleukopathy, symmetric
synonym: "acroleukopathy, symmetric" EXACT [OMIM:102000]
xref: MEDGEN:350143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566322 {source="MONDO:equivalentTo"}
xref: OMIM:102000 {source="MONDO:equivalentTo"}
xref: UMLS:C1863342 {source="MEDGEN:350143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/358 {source="MONDO:mim2gene_medgen"} ! AIP

[Term]
id: MONDO:0007050
name: acromegaloid changes, cutis verticis gyrata, and corneal leukoma
synonym: "acromegaloid changes, cutis verticis gyrata and corneal leukoma" RELATED [GARD:0000500]
synonym: "acromegaloid changes, cutis verticis gyrata, and corneal leukoma" EXACT [OMIM:102100]
synonym: "acromegaly-cutis verticis gyrata-corneal leukoma syndrome" EXACT [Orphanet:964]
synonym: "Rosenthal-Kloepfer syndrome" RELATED [OMIM:102100]
xref: MEDGEN:231158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535654 {source="MONDO:equivalentTo"}
xref: OMIM:102100 {source="MONDO:equivalentTo"}
xref: Orphanet:964 {source="MONDO:equivalentObsolete", source="OMIM:102100"}
xref: UMLS:C1321495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231158"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/500/acromegaloid-changes-cutis-verticis-gyrata-and-corneal-leukoma" xsd:anyURI {source="GARD:0000500"}

[Term]
id: MONDO:0007051
name: acromegaloid facial appearance syndrome
def: "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome." [Orphanet:965]
subset: gard_rare {source="GARD:501", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:965"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acromegaloid facial appearance syndrome" EXACT [OMIM:102150]
synonym: "AFA syndrome" RELATED [OMIM:102150]
synonym: "thick lips and oral mucosa" RELATED [OMIM:102150]
xref: GARD:501 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:965", source="Orphanet:965/specific", source="Orphanet:965/e"}
xref: MEDGEN:167116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535655 {source="Orphanet:965", source="MONDO:equivalentTo", source="Orphanet:965/e"}
xref: OMIM:102150 {source="Orphanet:965", source="MONDO:equivalentTo", source="Orphanet:965/e"}
xref: Orphanet:965 {source="OMIM:102150", source="MONDO:equivalentObsolete"}
xref: SCTID:720456009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167116"}
is_a: MONDO:0015160 {source="Orphanet:965"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:965", source="Orphanet:965/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome" xsd:anyURI {source="GARD:0000501"}

[Term]
id: MONDO:0007052
name: growth hormone secreting pituitary adenoma 1
comment: Editor note: consider splitting OMIM
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acromegaly due to pituitary adenoma 1" RELATED [OMIM:102200]
synonym: "familial isolated pituitary adenoma syndrome" RELATED [GARD:0010959]
synonym: "isolated familial somatotropinoma" RELATED [OMIM:102200]
synonym: "PAGH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102200]
synonym: "PITA1" RELATED ABBREVIATION [OMIM:102200]
synonym: "pituitary adenoma 1, multiple types" RELATED [OMIM:102200]
synonym: "pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation" EXACT [OMIM:102200, OMIM:genemap2]
synonym: "pituitary adenoma predisposition" RELATED [OMIM:102200]
synonym: "pituitary adenoma predisposition, autosomal dominant, somatic mutation" EXACT [OMIM:102200, OMIM:genemap2]
synonym: "pituitary adenoma, familial isolated" RELATED [OMIM:102200]
synonym: "pituitary adenoma, growth hormone-secreting, 1" RELATED [MONDO:Lexical, OMIM:102200]
synonym: "pituitary adenoma, growth hormone-secreting, type 1" EXACT [MONDORULE:1, OMIM:102200]
synonym: "Somatotrophinoma, familial" RELATED [OMIM:102200]
synonym: "somatotropinoma, familial isolated" RELATED [OMIM:102200]
xref: DOID:0112009 {source="MONDO:equivalentTo"}
xref: MEDGEN:1618709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:102200 {source="MONDO:equivalentTo", source="DOID:6255"}
xref: Orphanet:314777 {source="OMIM:102200"}
xref: Orphanet:96256 {source="OMIM:102200"}
xref: Orphanet:963 {source="OMIM:102200"}
xref: Orphanet:99725 {source="OMIM:102200", source="MONDO:directSiblingOf"}
xref: UMLS:C4538355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618709"}
is_a: MONDO:0006238 ! growth hormone-producing pituitary gland adenoma
is_a: MONDO:0017824 {source="OMIM:102200"} ! familial isolated pituitary adenoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007053
name: restless legs syndrome, susceptibility to, 1
subset: predisposition
synonym: "acromelalgia, hereditary" RELATED [OMIM:102300]
synonym: "Ekbom syndrome" RELATED [OMIM:102300]
synonym: "restless legs syndrome, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:102300]
synonym: "RLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102300]
xref: MEDGEN:360293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538443 {source="MONDO:equivalentTo"}
xref: OMIM:102300 {source="MONDO:equivalentTo"}
xref: UMLS:C1876177 {source="MEDGEN:360293", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100170 {source="OMIM:102300"} ! restless legs syndrome, susceptibility to
relationship: predisposes_towards MONDO:0005391 {source="DC-OMIM:102300", source="MESH:C538443", source="OMIM:102300"} ! restless legs syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0007054
name: acromial dimples
synonym: "acromial dimples" EXACT [OMIM:102350]
synonym: "supraspinous fossae, congenital" RELATED [OMIM:102350]
xref: MEDGEN:869278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:102350 {source="MONDO:equivalentTo"}
xref: UMLS:C4023704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:869278"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007055
name: Acromicric dysplasia
def: "A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." [https://orcid.org/0000-0001-5208-3432, Orphanet:969]
subset: gard_rare {source="GARD:7", source="MONDO:GARD"}
subset: nord_rare {source="NORD:725", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:969"}
subset: ordo_malformation_syndrome {source="Orphanet:969"}
subset: orphanet_rare {source="Orphanet:969"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACMICD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102370]
synonym: "Acromicric dysplasia" EXACT [MONDO:Lexical, OMIM:102370]
synonym: "Acromicric skeletal dysplasia" RELATED [GARD:0000007]
xref: DOID:0111243 {source="MONDO:equivalentTo"}
xref: GARD:7 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:969", source="Orphanet:969/attributed", source="Orphanet:969/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535662 {source="MONDO:equivalentTo", source="Orphanet:969", source="Orphanet:969/e"}
xref: NORD:725 {source="MONDO:NORD"}
xref: OMIM:102370 {source="MONDO:equivalentTo", source="Orphanet:969", source="Orphanet:969/e"}
xref: Orphanet:969 {source="OMIM:102370", source="MONDO:equivalentTo"}
xref: SCTID:254090007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265287 {source="MEDGEN:78549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019695 {source="Orphanet:969", source="PMID:31633310"} ! acromelic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia" xsd:anyURI {source="GARD:0000007"}

[Term]
id: MONDO:0007056
name: acroosteolysis
def: "A condition that is characterized by degeneration of the distal phalanges." [NCIT:C35545]
subset: gard_rare {source="GARD:15031", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acroosteolysis" EXACT [OMIM:102400]
xref: GARD:15031 {source="MONDO:GARD"}
xref: MEDGEN:183017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D030981 {source="MONDO:equivalentTo"}
xref: NCIT:C35545 {source="MONDO:equivalentTo"}
xref: OMIM:102400 {source="MONDO:equivalentTo"}
xref: Orphanet:955 {source="OMIM:102400"}
xref: SCTID:27201004 {source="MONDO:equivalentTo"}
xref: UMLS:C0917990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:183017"}
is_a: MONDO:0019707 {source="Orphanet:955"} ! primary osteolysis

[Term]
id: MONDO:0007057
name: Acroosteolysis dominant type
def: "A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." [https://orcid.org/0000-0001-5208-3432, Orphanet:955]
subset: gard_rare {source="GARD:508", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1214"}
subset: ordo_disorder {source="Orphanet:955"}
subset: ordo_malformation_syndrome {source="Orphanet:955"}
subset: orphanet_rare {source="Orphanet:955"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrodentoosteodysplasia" EXACT [Orphanet:955]
synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT [OMIM:102500, Orphanet:955]
synonym: "Arthrodentoosteodysplasia" EXACT [Orphanet:955]
synonym: "Cheney syndrome" EXACT [OMIM:102500, Orphanet:955]
synonym: "Hajdu Cheney Syndrome" EXACT [NORD:1214]
synonym: "Hajdu-Cheney syndrome" EXACT [MONDO:Lexical, OMIM:102500, Orphanet:955]
synonym: "HJCYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102500]
synonym: "serpentine fibula polycystic kidney syndrome" EXACT [MESH:C537586]
synonym: "serpentine fibula-polycystic kidney syndrome" EXACT [OMIM:102500]
synonym: "serpentine fibula-polycystic kidneys syndrome" EXACT [GARD:0000508]
xref: DOID:2736 {source="MONDO:equivalentTo"}
xref: GARD:508 {source="MONDO:GARD"}
xref: ICD10CM:M89.5 {source="Orphanet:955/attributed", source="Orphanet:955/ntbt", source="Orphanet:955"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:182961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531695 {source="MONDO:equivalentObsolete", source="Orphanet:955", source="Orphanet:955/e"}
xref: MESH:C535663 {source="Orphanet:955", source="MONDO:equivalentTo", source="Orphanet:955/e"}
xref: MESH:C537586 {source="MONDO:equivalentTo"}
xref: MESH:D030981 {source="DOID:2736"}
xref: MESH:D031845 {source="Orphanet:955", source="DOID:2736", source="Orphanet:955/e"}
xref: NCIT:C35545 {source="DOID:2736"}
xref: NCIT:C84745 {source="MONDO:equivalentTo", source="DOID:2736"}
xref: NORD:1214 {source="MONDO:NORD"}
xref: OMIM:102500 {source="Orphanet:955", source="MONDO:equivalentTo", source="DOID:2736", source="Orphanet:955/e"}
xref: Orphanet:955 {source="MONDO:equivalentTo", source="OMIM:102500"}
xref: SCTID:27201004 {source="DOID:2736"}
xref: SCTID:63122002 {source="MONDO:equivalentTo", source="DOID:2736"}
xref: UMLS:C0917715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:182961"}
is_a: MONDO:0000426 {source="DOID:2736", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84745"} ! syndromic disease
is_a: MONDO:0003157 {source="MESH:D010015"} ! disappearing bone disease
is_a: MONDO:0005554 {source="Orphanet:955"} ! rheumatic disorder
is_a: MONDO:0007056 {source="MESH:C535663"} ! acroosteolysis
is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:102500", source="Orphanet:955"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7882 {source="MONDO:mim2gene_medgen"} ! NOTCH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type" xsd:anyURI {source="GARD:0000508"}

[Term]
id: MONDO:0007058
name: Acropectorovertebral dysplasia
def: "A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." [https://orcid.org/0000-0001-5208-3432, Orphanet:957]
subset: gard_rare {source="GARD:512", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:957"}
subset: ordo_malformation_syndrome {source="Orphanet:957"}
subset: orphanet_rare {source="Orphanet:957"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acropectorovertebral dysplasia" EXACT [GARD:0000512, MONDO:Lexical, OMIM:102510]
synonym: "Acropectorovertebral dysplasia F form" RELATED [GARD:0000512]
synonym: "ACRPV" RELATED ABBREVIATION [GARD:0000512, MONDO:Lexical, OMIM:102510]
synonym: "F syndrome" EXACT [GARD:0000512, OMIM:102510, Orphanet:957]
xref: GARD:512 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:957", source="Orphanet:957/attributed", source="Orphanet:957/ntbt"}
xref: MEDGEN:400262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566319 {source="MONDO:equivalentTo"}
xref: OMIM:102510 {source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957", source="Orphanet:957/e"}
xref: Orphanet:957 {source="GARD:0000512", source="MONDO:equivalentTo", source="OMIM:102510"}
xref: SCTID:720457000 {source="MONDO:equivalentTo"}
xref: UMLS:C1863307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400262"}
is_a: MONDO:0015929 {source="Orphanet:957"} ! thoracic malformation
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia-f-form" xsd:anyURI {source="GARD:0000512"}

[Term]
id: MONDO:0007059
name: acrorenal syndrome
def: "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." [Orphanet:971]
subset: gard_rare {source="GARD:514", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:971"}
subset: ordo_malformation_syndrome {source="Orphanet:971"}
subset: orphanet_rare {source="Orphanet:971"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrorenal syndrome" EXACT [OMIM:102520]
xref: DOID:0060347 {source="MONDO:equivalentTo"}
xref: GARD:514 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:971/attributed", source="Orphanet:971/ntbt", source="Orphanet:971"}
xref: MEDGEN:501193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563159 {source="DOID:0060347", source="MONDO:equivalentTo"}
xref: OMIM:102520 {source="Orphanet:971/e", source="DOID:0060347", source="MONDO:equivalentTo", source="Orphanet:971"}
xref: Orphanet:971 {source="MONDO:equivalentTo", source="OMIM:102520"}
xref: SCTID:720458005 {source="MONDO:equivalentTo"}
xref: UMLS:C3495490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501193"}
is_a: MONDO:0015161 {source="Orphanet:971"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0007060
name: spermatogenic failure 6
def: "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15032", source="MONDO:GARD"}
subset: rare
synonym: "acrosome malformation of spermatozoa" RELATED [OMIM:102530]
synonym: "azoospermia caused by mutation in SPATA16" EXACT [MONDO:design_pattern]
synonym: "globozoospermia" RELATED [OMIM:102530]
synonym: "round-headed spermatozoa" RELATED [OMIM:102530]
synonym: "SPATA16 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 6" EXACT [MONDO:Lexical, OMIM:102530]
synonym: "spermatogenic failure type 6" EXACT [MONDORULE:1, OMIM:102530]
synonym: "spermatozoa, round-headed" RELATED [OMIM:102530]
synonym: "SPGF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102530]
xref: DOID:0070167 {source="MONDO:equivalentTo"}
xref: GARD:15032 {source="MONDO:GARD"}
xref: MEDGEN:96048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:102530 {source="MONDO:equivalentTo"}
xref: Orphanet:171709 {source="OMIM:102530"}
xref: Orphanet:399808 {source="OMIM:102530"}
xref: SCTID:236818008 {source="MONDO:equivalentTo"}
xref: UMLS:C0403825 {source="MEDGEN:96048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:102530", source="MONDO:Redundant", source="OMIM:102530"} ! spermatogenic failure
is_a: MONDO:0015746 {source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29935 ! SPATA16
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29935 ! SPATA16
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29935 {source="MONDO:mim2gene_medgen"} ! SPATA16
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29935 {source="MONDO:mim2gene_medgen"} ! SPATA16

[Term]
id: MONDO:0007061
name: obsolete acylase, cobalt-activated
comment: Reason: out of scope. Term to consider: none
synonym: "acylase, cobalt-activated" EXACT [OMIM:102590]
xref: OMIM:102590 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4422" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007062
name: adactylia, unilateral
def: "A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced." [Orphanet:973]
subset: gard_rare {source="GARD:377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:973"}
subset: orphanet_rare {source="Orphanet:973"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adactylia unilateral" EXACT [GARD:0000377]
synonym: "adactylia, unilateral" EXACT [OMIM:102650]
synonym: "Adactyly of hand, unilateral" EXACT [Orphanet:973]
synonym: "congenital absence/hypoplasia of fingers excluding thumb, unilateral" EXACT [Orphanet:973]
synonym: "digits 2-5 hypodactyly, unilateral" EXACT [Orphanet:973]
synonym: "digits 2-5 oligodactyly, unilateral" EXACT [Orphanet:973]
synonym: "terminal transverse defects of hand, unilateral" RELATED [GARD:0000377, OMIM:102650]
xref: GARD:377 {source="MONDO:GARD"}
xref: ICD10CM:Q71.3 {source="Orphanet:973", source="Orphanet:973/attributed", source="Orphanet:973/ntbt"}
xref: MEDGEN:113098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562417 {source="MONDO:equivalentTo"}
xref: OMIM:102650 {source="Orphanet:973", source="GARD:0000377", source="MONDO:equivalentTo", source="Orphanet:973/e"}
xref: Orphanet:294990 {source="OMIM:102650"}
xref: Orphanet:973 {source="OMIM:102650", source="GARD:0000377", source="MONDO:equivalentTo"}
xref: UMLS:C0220660 {source="MEDGEN:113098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:7938300", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral" xsd:anyURI {source="GARD:0000377"}

[Term]
id: MONDO:0007063
name: obsolete long bone adamantinoma
def: "OBSOLETE. A adamantinoma that involves the long bone." [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0002422

[Term]
id: MONDO:0007064
name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
def: "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." [Orphanet:277]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5748", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:277"}
subset: orphanet_rare {source="Orphanet:277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADA" EXACT ABBREVIATION [DOID:5810]
synonym: "ADA deficiency" EXACT [Orphanet:277]
synonym: "ADA-SCID" EXACT [OMIM:102700]
synonym: "adenosine deaminase deficiency" EXACT CLINGEN_LABEL [DOID:5810, NCIT:C3962]
synonym: "adenosine deaminase deficiency, partial" RELATED [OMIM:102700]
synonym: "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" EXACT [OMIM:102700, OMIM:genemap2]
synonym: "adenosine deaminase deficient severe combined immunodeficiency" EXACT [GARD:0005748]
synonym: "partial ADA deficiency" RELATED [OMIM:102700]
synonym: "SCID due to ADA deficiency" EXACT [OMIM:102700]
synonym: "SCID due to ADA deficiency, delayed onset" RELATED [OMIM:102700]
synonym: "SCID due to ADA deficiency, early-onset" EXACT [OMIM:102700]
synonym: "SCID due to ADA deficiency, late-onset" RELATED [OMIM:102700]
synonym: "SCID due to adenosine deaminase deficiency" EXACT [Orphanet:277]
synonym: "severe combined immunodeficiency due to ADA deficiency" RELATED [GARD:0005748]
synonym: "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" EXACT [OMIM:102700, OMIM:genemap2]
synonym: "severe combined immunodeficiency due to adenosine deaminase deficiency" RELATED [GARD:0005748]
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" EXACT [OMIM:102700]
xref: CSP:1560-6660 {source="DOID:5810"}
xref: DOID:5810 {source="MONDO:equivalentTo"}
xref: GARD:5748 {source="MONDO:GARD"}
xref: ICD10CM:D81.3 {source="Orphanet:277/specific", source="DOID:5810", source="Orphanet:277/e", source="Orphanet:277"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10066367 {source="Orphanet:277/e", source="Orphanet:277"}
xref: MEDGEN:354935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531816 {source="Orphanet:277/e", source="MONDO:equivalentTo", source="Orphanet:277"}
xref: NANDO:1200323 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200696 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3962 {source="DOID:5810", source="MONDO:equivalentTo"}
xref: OMIM:102700 {source="DOID:5810", source="Orphanet:277/e", source="MONDO:equivalentTo", source="Orphanet:277"}
xref: Orphanet:277 {source="MONDO:equivalentTo", source="OMIM:102700"}
xref: SCTID:124523006 {source="DOID:5810"}
xref: SCTID:190738006 {source="DOID:5810"}
xref: SCTID:190999009 {source="DOID:5810"}
xref: SCTID:44940001 {source="DOID:5810", source="MONDO:equivalentTo"}
xref: UMLS:C1863236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354935"}
is_a: MONDO:0017855 {source="Orphanet:277", source="PMID:31953710"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0019236 {source="Orphanet:277"} ! inborn disorder of purine metabolism
is_a: MONDO:0031520 {source="DC-OMIM:102700", source="DOID:5810", source="MESH:C531816", source="MONDO:Redundant", source="NCIT:C3962", source="Orphanet:277/inferred"} ! familial severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/186 {source="MONDO:mim2gene_medgen"} ! ADA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4200" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency" xsd:anyURI {source="GARD:0005748"}

[Term]
id: MONDO:0007065
name: obsolete adenosine deaminase, elevated, hemolytic anemia due to
is_obsolete: true
replaced_by: MONDO:0020458

[Term]
id: MONDO:0007066
name: adenosine triphosphatase deficiency, anemia due to
subset: gard_rare {source="GARD:548", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosine triphosphatase deficiency anaemia" RELATED OMO:0003005 []
synonym: "adenosine triphosphatase deficiency anemia" RELATED [GARD:0000548]
synonym: "adenosine triphosphatase deficiency, anemia due to" EXACT [OMIM:102800]
synonym: "anaemia due to adenosine triphosphatase deficiency" RELATED OMO:0003005 []
synonym: "anemia due to adenosine triphosphatase deficiency" RELATED [GARD:0000548]
xref: GARD:548 {source="MONDO:GARD"}
xref: MEDGEN:350115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566311 {source="MONDO:equivalentTo"}
xref: OMIM:102800 {source="MONDO:equivalentTo"}
xref: Orphanet:1044 {source="MONDO:equivalentObsolete", source="OMIM:102800"}
xref: SCTID:725057008 {source="MONDO:equivalentTo"}
xref: UMLS:C1863225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350115"}
is_a: MONDO:0003847 {source="MESH:C566311/inferred", source="Orphanet:1044/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency" xsd:anyURI {source="GARD:0000548"}

[Term]
id: MONDO:0007067
name: pyruvate kinase hyperactivity
def: "Autosomal dominant phenotype characterized by increase of red blood cell ATP." [EFO:0005840]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosine triphosphate, elevated, of erythrocytes" RELATED [OMIM:102900]
synonym: "pyruvate kinase hyperactivity" EXACT [OMIM:102900]
xref: EFO:0005840 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:350114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566310 {source="EFO:0005840", source="MONDO:equivalentTo"}
xref: OMIM:102900 {source="EFO:0005840", source="MONDO:equivalentTo"}
xref: UMLS:C1863224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350114"}
is_a: MONDO:0016789 {source="EFO:0005840"} ! pyruvate metabolism disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9020 {source="MONDO:mim2gene_medgen"} ! PKLR

[Term]
id: MONDO:0007068
name: adenylosuccinate lyase deficiency
def: "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features." [Orphanet:46]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:46"}
subset: orphanet_rare {source="Orphanet:46"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenylosuccinase deficiency" EXACT [OMIM:103050, Orphanet:46]
synonym: "adenylosuccinase lyase deficiency" RELATED [DOID:0050762]
synonym: "adenylosuccinate lyase deficiency" EXACT CLINGEN_LABEL [OMIM:103050]
synonym: "ADSL deficiency" EXACT [Orphanet:46]
synonym: "Adsl deficiency" RELATED [OMIM:103050]
synonym: "ADSLD" RELATED ABBREVIATION [OMIM:103050]
synonym: "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder" EXACT []
synonym: "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0050762 {source="MONDO:equivalentTo"}
xref: GARD:550 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:46/attributed", source="Orphanet:46/ntbt", source="Orphanet:46"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538235 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"}
xref: OMIM:103050 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"}
xref: Orphanet:46 {source="MONDO:equivalentTo", source="OMIM:103050"}
xref: SCTID:15285008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78641"}
is_a: MONDO:0004736 {source="DOID:0050762"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019236 {source="Orphanet:46"} ! inborn disorder of purine metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0070626 ! (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/291 {source="MONDO:mim2gene_medgen"} ! ADSL

[Term]
id: MONDO:0007069
name: obsolete Adie syndrome
is_obsolete: true
replaced_by: MONDO:0018690

[Term]
id: MONDO:0007070
name: adiposis dolorosa
def: "Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." [Orphanet:36397]
subset: gard_rare {source="GARD:5750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1046"}
subset: ordo_disorder {source="Orphanet:36397"}
subset: orphanet_rare {source="Orphanet:36397"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adiposalgia" EXACT [Orphanet:36397]
synonym: "adipose tissue rheumatism" EXACT [Orphanet:36397]
synonym: "adiposis dolorosa" EXACT [OMIM:103200]
synonym: "Dercum disease" EXACT [DOID:3928, OMIM:103200, Orphanet:36397]
synonym: "Dercum's Disease" EXACT [NORD:1046]
synonym: "Dercum's disease" EXACT [GARD:0005750]
synonym: "lipomatosis dolorosa" EXACT [Orphanet:36397]
synonym: "Neurolipomatosis" EXACT [Orphanet:36397]
xref: DOID:3928 {source="MONDO:equivalentTo", source="EFO:1000667"}
xref: EFO:1000667 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5750 {source="MONDO:GARD"}
xref: ICD10CM:E88.2 {source="Orphanet:36397/ntbt", source="Orphanet:36397", source="DOID:3928"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10001294 {source="Orphanet:36397/e", source="Orphanet:36397"}
xref: MEDGEN:1757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000274 {source="Orphanet:36397/e", source="MONDO:equivalentTo", source="Orphanet:36397", source="DOID:3928"}
xref: NCIT:C84540 {source="MONDO:equivalentTo", source="DOID:3928"}
xref: NORD:1046 {source="MONDO:NORD"}
xref: OMIM:103200 {source="Orphanet:36397/e", source="MONDO:equivalentTo", source="Orphanet:36397", source="DOID:3928"}
xref: Orphanet:36397 {source="OMIM:103200", source="MONDO:equivalentTo"}
xref: SCTID:71404003 {source="MONDO:equivalentTo", source="DOID:3928"}
xref: UMLS:C0001529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1757"}
xref: Wikipedia:Adiposis_dolorosa {source="EFO:1000667"}
is_a: MONDO:0006574 {source="DOID:3928", source="EFO:1000667", source="MESH:D000274"} ! lipomatosis
is_a: MONDO:0019296 {source="Orphanet:36397"} ! subcutaneous tissue disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa" xsd:anyURI {source="GARD:0005750"}

[Term]
id: MONDO:0007071
name: adrenocortical hypofunction, chronic primary congenital
subset: gard_rare {source="GARD:15033", source="MONDO:GARD"}
subset: rare
synonym: "Addison disease, congenital" RELATED [OMIM:103230]
synonym: "adrenocortical hypofunction, chronic primary congenital" EXACT [OMIM:103230]
xref: GARD:15033 {source="MONDO:GARD"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562711 {source="MONDO:equivalentTo"}
xref: OMIM:103230 {source="MONDO:equivalentTo"}
xref: Orphanet:85138 {source="OMIM:103230", source="MONDO:directSiblingOf"}
xref: SCTID:12427005 {source="MONDO:equivalentTo"}
xref: UMLS:C0271740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78784"}
is_a: MONDO:0015129 {source="Orphanet:85138/btnt"} ! chronic primary adrenal insufficiency
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007072
name: ADULT syndrome
def: "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia." [Orphanet:978]
subset: gard_rare {source="GARD:384", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:978"}
subset: ordo_malformation_syndrome {source="Orphanet:978"}
subset: orphanet_rare {source="Orphanet:978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acro dermato ungual lacrimal tooth syndrome" RELATED [GARD:0000384]
synonym: "acro-dermato-ungual-lacrimal-Tooth syndrome" RELATED [OMIM:103285]
synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [DOID:0050601, Orphanet:978]
synonym: "acrodermatounguallacrimaltooth syndrome" EXACT [Orphanet:978]
synonym: "ADULT syndrome" EXACT [OMIM:103285]
synonym: "pigment anomaly-ectrodactyly-hypodontia syndrome" EXACT [Orphanet:978]
xref: DOID:0050601 {source="MONDO:equivalentTo"}
xref: GARD:384 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:978", source="Orphanet:978/attributed", source="Orphanet:978/ntbt"}
xref: MEDGEN:400232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538052 {source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"}
xref: OMIM:103285 {source="DOID:0050601", source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"}
xref: Orphanet:978 {source="OMIM:103285", source="MONDO:equivalentTo"}
xref: SCTID:720464003 {source="MONDO:equivalentTo"}
xref: UMLS:C1863204 {source="MEDGEN:400232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0050601", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019287 {source="https://orcid.org/0000-0002-5002-8648"} ! ectodermal dysplasia syndrome
relationship: disease_has_feature HP:0000668 ! Hypodontia
relationship: disease_has_feature HP:0001000 ! Abnormality of skin pigmentation
relationship: disease_has_feature HP:0001480 ! Freckling
relationship: disease_has_feature HP:0002164 ! Nail dysplasia
relationship: disease_has_feature HP:0003187 ! Breast hypoplasia
relationship: disease_has_feature HP:0008070 ! Sparse hair
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:103285", source="Orphanet:978"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0007073
name: Hypoglossia-hypodactyly syndrome
def: "A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." [GARD:0000068, https://orcid.org/0000-0001-5208-3432]
subset: gard_rare {source="GARD:68", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1215"}
subset: ordo_disorder {source="Orphanet:989"}
subset: ordo_malformation_syndrome {source="Orphanet:989"}
subset: orphanet_rare {source="Orphanet:989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aglossia adactylia" RELATED [GARD:0000068]
synonym: "aglossia-adactylia" RELATED [OMIM:103300]
synonym: "aglossia-adactylia syndrome" EXACT [Orphanet:989]
synonym: "Hanhart Syndrome" EXACT [NORD:1215]
synonym: "Hanhart syndrome" EXACT [OMIM:103300, Orphanet:989]
synonym: "Hypoglossia-hypodactylia" RELATED [OMIM:103300]
synonym: "Hypoglossia-hypodactylia syndrome" RELATED [GARD:0000068]
synonym: "Jussieu syndrome" EXACT [Orphanet:989]
synonym: "oromandibular limb hypoplasia" RELATED [OMIM:103300]
synonym: "peromelia with micrognathia" RELATED [GARD:0000068]
synonym: "peromelia with micrognathism" RELATED [OMIM:103300]
xref: GARD:68 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:989", source="Orphanet:989/attributed", source="Orphanet:989/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:354928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1215 {source="MONDO:NORD"}
xref: OMIM:103300 {source="GARD:0000068", source="MONDO:equivalentTo", source="Orphanet:989", source="Orphanet:989/e"}
xref: Orphanet:989 {source="GARD:0000068", source="MONDO:equivalentTo", source="OMIM:103300"}
xref: SCTID:35031005 {source="MONDO:equivalentTo"}
xref: UMLS:C1863203 {source="MEDGEN:354928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:989"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0017139 {source="Orphanet:989"} ! oromandibular-limb hypogenesis syndrome
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI

[Term]
id: MONDO:0007074
name: ainhum
def: "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." [NCIT:P378]
synonym: "ainhum" EXACT [DOID:11329, MONDO:ambiguous, OMIM:103400]
synonym: "ainhum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Dactylolysis" EXACT [NCIT:C84544]
synonym: "Dactylolysis spontanea" EXACT [DOID:11329]
synonym: "spontaneous dactylolysis" RELATED [GARD:0009512]
xref: DOID:11329 {source="MONDO:equivalentTo"}
xref: HP:0031009 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L94.6 {source="DOID:11329", source="MONDO:equivalentTo"}
xref: ICD9:136.0 {source="DOID:11329", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000387 {source="DOID:11329", source="MONDO:equivalentTo"}
xref: NCIT:C84544 {source="DOID:11329", source="MONDO:equivalentTo"}
xref: OMIM:103400 {source="DOID:11329", source="MONDO:equivalentTo"}
xref: SCTID:38528001 {source="DOID:11329", source="MONDO:equivalentTo"}
xref: SCTID:51404004 {source="DOID:11329"}
xref: UMLS:C0001860 {source="MEDGEN:1381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="DOID:11329"} ! connective tissue disorder
is_a: MONDO:0005093 {source="GARD:0009512"} ! skin disorder
is_a: MONDO:0005381 {source="MESH:D000387"} ! bone disorder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3605" xsd:anyURI
property_value: IAO:0000589 "ainhum (disease)" xsd:string

[Term]
id: MONDO:0007075
name: alacrima, congenital, autosomal dominant
subset: gard_rare {source="GARD:18165", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alacrima, congenital" RELATED [OMIM:103420]
synonym: "alacrimia congenita" RELATED [OMIM:103420]
synonym: "alacrimia congenita, autosomal dominant" RELATED [OMIM:103420]
xref: GARD:18165 {source="MONDO:GARD"}
xref: MEDGEN:934803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566307 {source="MONDO:equivalentTo"}
xref: OMIM:103420 {source="MONDO:equivalentTo"}
xref: Orphanet:91416 {source="OMIM:103420"}
xref: UMLS:C4310836 {source="MONDO:equivalentTo", source="MEDGEN:934803", source="MONDO:MEDGEN"}
is_a: MONDO:0019627 {source="Orphanet:91416/btnt"} ! isolated congenital alacrima
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007076
name: obsolete ocular albinism with sensorineural deafness
is_obsolete: true
replaced_by: MONDO:0018138

[Term]
id: MONDO:0007077
name: Tietz syndrome
def: "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." [Orphanet:42665]
comment: Editor note: consider classification under albinism
subset: gard_rare {source="GARD:7772", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:42665"}
subset: ordo_malformation_syndrome {source="Orphanet:42665"}
subset: orphanet_rare {source="Orphanet:42665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism-deafness of Tietz" EXACT [DOID:0090002]
synonym: "hypopigmentation-deafness syndrome" EXACT [Orphanet:42665]
synonym: "hypopigmentation/deafness of Tietz" EXACT [DOID:0090002, OMIM:103500]
synonym: "TADS" RELATED ABBREVIATION [OMIM:103500]
synonym: "Tietz albinism-deafness syndrome" EXACT [DOID:0090002, OMIM:103500]
synonym: "Tietz syndrome" EXACT [OMIM:103500]
xref: DOID:0090002 {source="MONDO:equivalentTo"}
xref: GARD:7772 {source="MONDO:GARD"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536919 {source="Orphanet:42665", source="MONDO:equivalentTo", source="Orphanet:42665/e"}
xref: OMIM:103500 {source="Orphanet:42665", source="MONDO:equivalentTo", source="DOID:0090002", source="Orphanet:42665/e"}
xref: Orphanet:42665 {source="MONDO:equivalentTo", source="DOID:0090002", source="OMIM:103500"}
xref: SCTID:403805009 {source="MONDO:equivalentTo"}
xref: UMLS:C0391816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98213"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019290 {source="MESH:C536919/inferred", source="Orphanet:42665"} ! hypopigmentation of the skin
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome" xsd:anyURI {source="GARD:0007772"}

[Term]
id: MONDO:0007078
name: pseudohypoparathyroidism type 1A
def: "A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)." [Orphanet:79443]
subset: gard_rare {source="GARD:7486", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79443"}
subset: orphanet_rare {source="Orphanet:79443"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AHO" RELATED ABBREVIATION [GARD:0005770]
synonym: "AHO-PHP syndrome Ia" EXACT [Orphanet:79443]
synonym: "Albright hereditary osteodystrophy" EXACT [GARD:0005770]
synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129721]
synonym: "Albright hereditary osteodystrophy-PHP syndrome Ia" EXACT [Orphanet:79443]
synonym: "Albright's hereditary osteodystrophy" EXACT [DOID:0080053]
synonym: "PHP 1A" RELATED [OMIM:103580]
synonym: "PHP1A" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C129721, OMIM:103580]
synonym: "Pseudohypoparathyroidism Ia" EXACT [OMIM:103580, OMIM:genemap2]
synonym: "Pseudohypoparathyroidism type 1A" EXACT [DOID:0080053, NCIT:C129721]
synonym: "Pseudohypoparathyroidism, type 1A" RELATED [OMIM:103580]
synonym: "Pseudohypoparathyroidism, type IA" RELATED [MONDO:Lexical, OMIM:103580]
xref: DOID:0080053 {source="MONDO:equivalentTo"}
xref: GARD:7486 {source="MONDO:GARD"}
xref: ICD10CM:E20.1 {source="Orphanet:79443/attributed", source="Orphanet:79443/ntbt", source="Orphanet:79443"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:488447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537045 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:1201075 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129721 {source="MONDO:equivalentTo"}
xref: OMIM:103580 {source="DOID:0080053", source="Orphanet:79443/e", source="MONDO:equivalentTo", source="Orphanet:79443", source="GARD:0005770"}
xref: Orphanet:665 {source="OMIM:103580", source="GARD:0005770"}
xref: Orphanet:79443 {source="OMIM:103580", source="MONDO:equivalentTo"}
xref: SCTID:58833000 {source="MONDO:equivalentTo"}
xref: UMLS:C3494506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488447"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia
is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism
is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0007079
name: alcohol dependence
def: "Physical and psychological dependence on alcohol." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "aerodigestive tract cancer, squamous cell, alcohol-related, protection against" RELATED [OMIM:103780]
synonym: "alcohol dependence" EXACT [OMIM:103780]
synonym: "alcohol dependence, protection against" RELATED [OMIM:103780]
synonym: "alcohol dependence, susceptibility to" RELATED [OMIM:103780, OMIM:genemap2]
synonym: "alcoholism" EXACT [DOID:0050741]
xref: DOID:0050741 {source="MONDO:equivalentTo", source="EFO:0003829"}
xref: ICD9:303.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:305.0 {source="EFO:0003829"}
xref: MEDGEN:1801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000437 {source="MONDO:relatedTo", source="EFO:0003829"}
xref: MESH:D010610 {source="MONDO:relatedTo", source="DOID:0050741"}
xref: MESH:D019973 {source="MONDO:relatedTo", source="EFO:0003829"}
xref: NCIT:C3325 {source="MONDO:relatedTo", source="DOID:0050741"}
xref: NCIT:C93040 {source="MONDO:equivalentTo", source="EFO:0003829"}
xref: OMIM:103780 {source="DOID:0050741", source="MONDO:equivalentTo", source="EFO:0003829"}
xref: SCTID:126685009 {source="DOID:0050741"}
xref: SCTID:66590003 {source="MONDO:equivalentTo", source="EFO:0003829"}
xref: SCTID:95001001 {source="DOID:0050741"}
xref: UMLS:C0001973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801"}
is_a: MONDO:0004938 {source="DOID:0050741", source="NCIT:C93040"} ! substance dependence
is_a: MONDO:0005303 {source="EFO:0003829"} ! drug dependence
intersection_of: MONDO:0004938 ! substance dependence
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007080
name: glucocorticoid-remediable aldosteronism
def: "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." [Orphanet:403]
subset: gard_rare {source="GARD:2790", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:403"}
subset: orphanet_rare {source="Orphanet:403"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTH-dependent hyperaldosteronism syndrome" RELATED [OMIM:103900]
synonym: "aldosteronism, glucocorticoid-remediable" EXACT [OMIM:103900, OMIM:genemap2]
synonym: "aldosteronism, sensitive to dexamethasone" RELATED [OMIM:103900]
synonym: "dexamethasone sensitive hypertension" RELATED [GARD:0002790]
synonym: "dexamethasone-sensitive hypertension" EXACT [Orphanet:403]
synonym: "familial hyperaldosteronism type 1" EXACT [Orphanet:403]
synonym: "familial hyperaldosteronism type I" RELATED [Orphanet:403]
synonym: "FH 1" RELATED [OMIM:103900]
synonym: "FH-I" EXACT [Orphanet:403]
synonym: "FH1" EXACT ABBREVIATION [Orphanet:403]
synonym: "glucocorticoid sensitive hypertension" RELATED [GARD:0002790]
synonym: "glucocorticoid-remediable aldosteronism" EXACT [MONDO:Lexical, OMIM:103900, Orphanet:403]
synonym: "glucocorticoid-sensitive hypertension" EXACT [Orphanet:403]
synonym: "glucocorticoid-suppressible hyperaldosteronism" RELATED [OMIM:103900]
synonym: "GRA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:103900, Orphanet:403]
synonym: "HALD1" RELATED ABBREVIATION [OMIM:103900]
synonym: "hyperaldosteronism, familial type 1" RELATED [GARD:0002790]
synonym: "hyperaldosteronism, familial, type 1" RELATED [OMIM:103900]
synonym: "hyperaldosteronism, familial, type I" RELATED [OMIM:103900]
xref: DOID:14080 {source="MONDO:equivalentTo"}
xref: GARD:2790 {source="MONDO:GARD"}
xref: ICD10CM:E26.0 {source="Orphanet:403", source="Orphanet:403/attributed", source="Orphanet:403/ntbt"}
xref: ICD10CM:E26.02 {source="DOID:14080", source="MONDO:equivalentTo"}
xref: ICD9:255.11 {source="DOID:14080"}
xref: MEDGEN:824577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563177 {source="DOID:14080", source="MONDO:equivalentTo"}
xref: NCIT:C123248 {source="DOID:14080", source="MONDO:otherHierarchy"}
xref: OMIM:103900 {source="DOID:14080", source="Orphanet:403", source="MONDO:equivalentTo", source="Orphanet:403/e"}
xref: Orphanet:403 {source="MONDO:equivalentTo", source="OMIM:103900"}
xref: SCTID:237743003 {source="DOID:14080"}
xref: UMLS:C3838731 {source="MEDGEN:824577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016525 {source="Orphanet:403"} ! familial hyperaldosteronism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2591 {source="MONDO:mim2gene_medgen"} ! CYP11B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism" xsd:anyURI {source="GARD:0002790"}

[Term]
id: MONDO:0007081
name: obsolete allergic bronchopulmonary aspergillosis
is_obsolete: true
replaced_by: MONDO:0015243

[Term]
id: MONDO:0007082
name: alopecia areata 1
subset: gard_rare {source="GARD:15035", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104000]
synonym: "alopecia areata 1" EXACT [MONDO:Lexical, OMIM:104000]
synonym: "alopecia universalis" RELATED [OMIM:104000]
xref: GARD:15035 {source="MONDO:GARD"}
xref: MEDGEN:400208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566303 {source="MONDO:equivalentTo"}
xref: OMIM:104000 {source="MONDO:equivalentTo"}
xref: Orphanet:700 {source="MONDO:relatedTo", source="OMIM:104000"}
xref: Orphanet:701 {source="OMIM:104000", source="MONDO:directSiblingOf"}
xref: UMLS:C1863094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400208"}
is_a: MONDO:0000005 {source="DC-OMIM:104000", source="OMIM:104000"} ! alopecia, isolated
is_a: MONDO:0005340 {source="https://orcid.org/0000-0001-5208-3432"} ! alopecia areata

[Term]
id: MONDO:0007083
name: autosomal dominant palmoplantar keratoderma and congenital alopecia
def: "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." [Orphanet:1010]
subset: gard_rare {source="GARD:604", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1010"}
subset: orphanet_rare {source="Orphanet:1010"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia congenita with hyperkeratosis of the palms and soles" RELATED [GARD:0000604]
synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1010]
synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" RELATED [OMIM:104100]
synonym: "palmoplantar keratoderma and congenital alopecia 1" RELATED [MONDO:Lexical, OMIM:104100]
synonym: "palmoplantar keratoderma and congenital alopecia type 1" EXACT [MONDORULE:1, OMIM:104100]
synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT [Orphanet:1010]
synonym: "palmoplantar keratoderma with congenital alopecia" EXACT [OMIM:104100, OMIM:genemap2]
synonym: "PPK-CA, Stevanovic type" EXACT [Orphanet:1010]
synonym: "Ppkca, Stevanovic type" RELATED [OMIM:104100]
synonym: "PPKCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104100]
xref: DOID:0111244 {source="MONDO:equivalentTo"}
xref: GARD:604 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1010", source="Orphanet:1010/attributed", source="Orphanet:1010/ntbt"}
xref: MEDGEN:930338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:104100 {source="Orphanet:1010", source="MONDO:equivalentTo", source="Orphanet:1010/e"}
xref: Orphanet:1010 {source="OMIM:104100", source="MONDO:equivalentTo"}
xref: SCTID:719518004 {source="MONDO:equivalentTo"}
xref: UMLS:C4304669 {source="MEDGEN:930338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="Orphanet:1010"} ! ectodermal dysplasia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia" xsd:anyURI {source="GARD:0000604"}

[Term]
id: MONDO:0007084
name: familial focal alopecia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alopecia, familial focal" EXACT [MONDO:Lexical, OMIM:104110]
synonym: "ALPF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104110]
xref: MEDGEN:350835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566301 {source="MONDO:equivalentTo"}
xref: OMIM:104110 {source="MONDO:equivalentTo"}
xref: UMLS:C1863092 {source="MEDGEN:350835", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000005 {source="OMIM:104110"} ! alopecia, isolated
is_a: MONDO:0004907 {source="MESH:C566301", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! alopecia

[Term]
id: MONDO:0007085
name: alopecia-epilepsy-pyorrhea-intellectual disability syndrome
def: "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." [Orphanet:1008]
subset: gard_rare {source="GARD:607", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1008"}
subset: orphanet_rare {source="Orphanet:1008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia, epilepsy, pyorrhea, mental subnormality" RELATED [GARD:0000607]
synonym: "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" RELATED [OMIM:104130]
synonym: "congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" RELATED [GARD:0000607]
synonym: "Shokeir syndrome" EXACT [OMIM:104130, Orphanet:1008]
xref: GARD:607 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1008", source="Orphanet:1008/attributed", source="Orphanet:1008/ntbt"}
xref: MEDGEN:350833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537057 {source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"}
xref: OMIM:104130 {source="MONDO:equivalentTo", source="Orphanet:1008", source="Orphanet:1008/e"}
xref: Orphanet:1008 {source="OMIM:104130", source="MONDO:equivalentTo"}
xref: SCTID:720980004 {source="MONDO:equivalentTo"}
xref: UMLS:C1863090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350833"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1008", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007086
name: autosomal dominant Alport syndrome
def: "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell." [https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome]
subset: gard_rare {source="GARD:624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:88918"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88918"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alport syndrome 3, autosomal dominant" EXACT [OMIM:104200, OMIM:genemap2]
synonym: "Alport syndrome dominant type" RELATED [GARD:0000624]
synonym: "Alport syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:104200]
synonym: "renal failure and sensorineural hearing loss" RELATED [GARD:0000624]
xref: DOID:0110032 {source="MONDO:equivalentTo"}
xref: GARD:624 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:88918/attributed", source="Orphanet:88918/ntbt", source="Orphanet:88918"}
xref: MEDGEN:1648326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536586 {source="Orphanet:88918/e", source="Orphanet:88918"}
xref: OMIM:104200 {source="Orphanet:88918/e", source="MONDO:equivalentTo", source="DOID:0110032", source="Orphanet:88918"}
xref: Orphanet:63 {source="OMIM:104200"}
xref: Orphanet:88918 {source="OMIM:104200", source="MONDO:equivalentTo", source="DOID:0110032"}
xref: SCTID:717766000 {source="MONDO:equivalentTo"}
xref: UMLS:C4746547 {source="MEDGEN:1648326", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0018965 {source="DC-OMIM:104200", source="DOID:0110032", source="MONDO:Redundant", source="Orphanet:88918"} ! Alport syndrome
intersection_of: MONDO:0018965 ! Alport syndrome
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:104200", source="Orphanet:88918"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2204 {source="MONDO:mim2gene_medgen"} ! COL4A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome" xsd:anyURI {source="GARD:0000624"}

[Term]
id: MONDO:0007087
name: alternating hemiplegia of childhood 1
def: "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15036", source="MONDO:GARD"}
subset: rare
synonym: "AHC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104290]
synonym: "alternating hemiplegia of childhood 1" EXACT [MONDO:Lexical, OMIM:104290]
synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A2" EXACT [MONDO:design_pattern]
synonym: "alternating hemiplegia of childhood type 1" EXACT [MONDORULE:1, OMIM:104290]
synonym: "ATP1A2 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15036 {source="MONDO:GARD"}
xref: MEDGEN:762361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:104290 {source="MONDO:equivalentTo"}
xref: Orphanet:2131 {source="OMIM:104290"}
xref: UMLS:C3549447 {source="MEDGEN:762361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016241 {source="DC-OMIM:104290", source="MONDO:Redundant", source="OMIM:104290"} ! alternating hemiplegia of childhood
intersection_of: MONDO:0016241 ! alternating hemiplegia of childhood
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 ! ATP1A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 {source="MONDO:mim2gene_medgen"} ! ATP1A2

[Term]
id: MONDO:0007088
name: Alzheimer disease type 1
subset: gard_rare {source="GARD:9465", source="MONDO:GARD"}
subset: rare
synonym: "AD" RELATED ABBREVIATION [OMIM:104300]
synonym: "AD1" RELATED ABBREVIATION [GARD:0009465]
synonym: "Alzheimer disease" RELATED [OMIM:104300]
synonym: "Alzheimer disease 1" RELATED [GARD:0009465]
synonym: "Alzheimer disease 1, familial" EXACT [OMIM:104300, OMIM:genemap2]
synonym: "Alzheimer disease, early-onset, with cerebral amyloid angiopathy" RELATED [OMIM:104300]
synonym: "Alzheimer disease, familial, 1" RELATED [OMIM:104300]
synonym: "Alzheimer disease, late-onset, susceptibility to" RELATED [OMIM:104300, OMIM:genemap2]
synonym: "Alzheimer disease, protection against" RELATED [OMIM:104300]
synonym: "Alzheimer disease, susceptibility to" RELATED [OMIM:104300, OMIM:genemap2]
synonym: "early-onset familial form of Alzheimer disease" BROAD [GARD:0009465]
synonym: "presenile and senile dementia" RELATED [OMIM:104300]
xref: DECIPHER:48 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:relatedTo"}
xref: DOID:0080348 {source="MONDO:equivalentTo"}
xref: GARD:9465 {source="MONDO:GARD"}
xref: MEDGEN:354892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536594 {source="MONDO:equivalentTo"}
xref: OMIM:104300 {source="MONDO:equivalentTo", source="DOID:0080348"}
xref: Orphanet:1020 {source="OMIM:104300"}
xref: Orphanet:98926 {source="GARD:0009465"}
xref: UMLS:C1863052 {source="MEDGEN:354892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0080348"} ! autosomal dominant disease
is_a: MONDO:0004975 {source="DC-OMIM:104300", source="DOID:0080348", source="MONDO:indirect"} ! Alzheimer disease
is_a: MONDO:0015140 {source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6311" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9465/alzheimer-disease-type-1" xsd:anyURI {source="GARD:0009465"}

[Term]
id: MONDO:0007089
name: Alzheimer disease 2
def: "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." [DOID:0110035, PMID:8346443]
subset: gard_rare {source="GARD:12799", source="MONDO:GARD"}
subset: rare
synonym: "AD2" EXACT ABBREVIATION [DOID:0110035, OMIM:104310]
synonym: "Alzheimer disease 2" EXACT [OMIM:104310]
synonym: "Alzheimer disease 2, late onset" EXACT [DOID:0110035]
synonym: "Alzheimer disease 2, late-onset" RELATED [OMIM:104310]
synonym: "Alzheimer disease associated with APOE E4" EXACT [GARD:0009467]
synonym: "Alzheimer disease associated with APOE4" EXACT [DOID:0110035, OMIM:104310]
synonym: "Alzheimer disease type 2" EXACT [GARD:0012799, MONDORULE:1, OMIM:104310]
synonym: "Alzheimer disease-2" EXACT [DOID:0110035]
synonym: "Alzheimer's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 2" EXACT [DOID:0110035, MONDORULE:1]
synonym: "late onset Alzheimer disease" EXACT [GARD:0009467]
synonym: "late onset familial Alzheimer disease" EXACT [GARD:0009467]
synonym: "late-onset familial alzheimer disease" EXACT [MONDO:0100088]
synonym: "LOFAD" RELATED ABBREVIATION [GARD:0009467]
xref: DOID:0110035 {source="MONDO:equivalentTo"}
xref: GARD:12799 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110035"}
xref: MEDGEN:400197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536595 {source="MONDO:equivalentTo"}
xref: OMIM:104310 {source="MONDO:equivalentTo", source="DOID:0110035"}
xref: Orphanet:1020 {source="OMIM:104310"}
xref: UMLS:C1863051 {source="MEDGEN:400197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004975 {source="https://github.com/monarch-initiative/mondo/issues/1304"} ! Alzheimer disease
is_a: MONDO:0100087 ! familial Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0015140 {source="Orphanet:1020/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset autosomal dominant Alzheimer disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/613 {source="MONDO:mim2gene_medgen"} ! APOE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3947" xsd:anyURI

[Term]
id: MONDO:0007090
name: amastia, bilateral, with ureteral triplication and dysmorphism
synonym: "amastia, bilateral, with ureteral triplication and dysmorphism" EXACT [OMIM:104350]
xref: MEDGEN:354882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566295 {source="MONDO:equivalentTo"}
xref: OMIM:104350 {source="MONDO:equivalentTo"}
xref: UMLS:C1863015 {source="MEDGEN:354882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007091
name: amelia and terminal transverse hemimelia
synonym: "amelia and terminal transverse hemimelia" EXACT [OMIM:104400]
xref: MEDGEN:400186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566294 {source="MONDO:equivalentTo"}
xref: OMIM:104400 {source="MONDO:equivalentTo"}
xref: UMLS:C1863014 {source="MEDGEN:400186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature HP:0009827 ! Amelia

[Term]
id: MONDO:0007092
name: amelogenesis imperfecta type 1B
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15037", source="MONDO:GARD"}
subset: rare
synonym: "AI1B" EXACT ABBREVIATION [DOID:0110052, MONDO:Lexical, OMIM:104500]
synonym: "AIH2" RELATED ABBREVIATION [DOID:0110052, OMIM:104500]
synonym: "amelogenesis imperfecta caused by mutation in ENAM" EXACT []
synonym: "amelogenesis imperfecta caused by mutation in enam" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta type IB" EXACT [DOID:0110052]
synonym: "amelogenesis imperfecta, hypoplastic local, autosomal dominant" RELATED [OMIM:104500]
synonym: "amelogenesis imperfecta, type 1B" RELATED [OMIM:104500]
synonym: "amelogenesis imperfecta, type IB" RELATED [MONDO:Lexical, OMIM:104500]
synonym: "autosomal dominant hypoplastic local amelogenesis imperfecta" EXACT [DOID:0110052]
synonym: "ENAM amelogenesis imperfecta" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "enam amelogenesis imperfecta" EXACT [MONDO:design_pattern]
synonym: "enamel hypoplasia, hereditary localised" RELATED OMO:0003005 []
synonym: "enamel hypoplasia, hereditary localized" RELATED [OMIM:104500]
synonym: "hereditary localised enamel hypoplasia" EXACT OMO:0003005 []
synonym: "hereditary localized enamel hypoplasia" EXACT [DOID:0110052]
xref: DOID:0110052 {source="MONDO:equivalentTo"}
xref: GARD:15037 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110052"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562879 {source="MONDO:equivalentTo"}
xref: OMIM:104500 {source="MONDO:equivalentTo", source="DOID:0110052"}
xref: Orphanet:100031 {source="OMIM:104500"}
xref: SCTID:234961008 {source="MONDO:equivalentTo"}
xref: UMLS:C0399368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:97993"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1
is_a: MONDO:0019507 {source="DOID:0110052", source="MESH:C562879", source="MONDO:Redundant", source="OMIM:104500"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3344 ! ENAM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3344 {source="MONDO:mim2gene_medgen"} ! ENAM

[Term]
id: MONDO:0007093
name: hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16932", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100034"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AI4" EXACT ABBREVIATION [DOID:0110053, MONDO:Lexical, OMIM:104510]
synonym: "AIHHT" EXACT ABBREVIATION [DOID:0110053]
synonym: "amelogenesis imperfecta caused by mutation in DLX3" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism" EXACT [DOID:0110053]
synonym: "amelogenesis imperfecta type 4" EXACT [Orphanet:100034]
synonym: "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" RELATED [OMIM:104510]
synonym: "amelogenesis imperfecta, type 4" RELATED [OMIM:104510]
synonym: "amelogenesis imperfecta, type IV" RELATED [MONDO:Lexical, OMIM:104510]
synonym: "DLX3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110053 {source="MONDO:equivalentTo"}
xref: GARD:16932 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:100034/attributed", source="Orphanet:100034/ntbt", source="Orphanet:100034", source="DOID:0110053"}
xref: MEDGEN:350816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566293 {source="MONDO:equivalentTo"}
xref: OMIM:104510 {source="Orphanet:100034", source="MONDO:equivalentTo", source="DOID:0110053", source="Orphanet:100034/e"}
xref: Orphanet:100034 {source="MONDO:equivalentTo", source="OMIM:104510"}
xref: UMLS:C1863012 {source="MEDGEN:350816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:100034/inferred"} ! hereditary disease
is_a: MONDO:0019507 {source="DC-OMIM:104510", source="DOID:0110053", source="MESH:C566293", source="MONDO:Redundant", source="OMIM:104510", source="Orphanet:100034"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2916 ! DLX3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2916 {source="MONDO:mim2gene_medgen"} ! DLX3

[Term]
id: MONDO:0007094
name: amelogenesis imperfecta type 1A
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series. {source="OMIM:104530"}
subset: gard_rare {source="GARD:15038", source="MONDO:GARD"}
subset: rare
synonym: "AI1A" EXACT ABBREVIATION [DOID:0110054, MONDO:Lexical, OMIM:104530]
synonym: "amelogenesis imperfecta caused by mutation in LAMB3" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypoplastic type IA" EXACT [DOID:0110054]
synonym: "amelogenesis imperfecta local hypoplastic" RELATED [GARD:0000645]
synonym: "amelogenesis imperfecta type IA" EXACT [DOID:0110054]
synonym: "amelogenesis imperfecta, hypoplastic type 1A" RELATED [OMIM:104530]
synonym: "amelogenesis imperfecta, type 1A" RELATED [OMIM:104530]
synonym: "amelogenesis imperfecta, type IA" RELATED [MONDO:Lexical, OMIM:104530]
synonym: "LAMB3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "local hypoplastic amelogenesis imperfecta" RELATED [GARD:0000645]
xref: DOID:0110054 {source="MONDO:equivalentTo"}
xref: GARD:15038 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110054"}
xref: MEDGEN:859840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538240 {source="MONDO:equivalentTo"}
xref: OMIM:104530 {source="MONDO:equivalentTo", source="GARD:0000645", source="DOID:0110054"}
xref: Orphanet:100031 {source="OMIM:104530"}
xref: Orphanet:88661 {source="OMIM:104530"}
xref: UMLS:C4011403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:859840"}
is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1
is_a: MONDO:0019507 {source="DOID:0110054", source="MESH:C538240", source="MONDO:Redundant", source="OMIM:104530"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6490 ! LAMB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6490 {source="MONDO:mim2gene_medgen"} ! LAMB3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic" xsd:anyURI {source="GARD:0000645"}

[Term]
id: MONDO:0007095
name: ameloonychohypohidrotic syndrome
subset: gard_rare {source="GARD:647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1028"}
subset: ordo_malformation_syndrome {source="Orphanet:1028"}
subset: orphanet_rare {source="Orphanet:1028"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amelo-onycho-hypohidrotic syndrome" RELATED [ISBN-13:978-88-470-0687-4]
synonym: "ameloonychohypohidrotic syndrome" EXACT [OMIM:104570]
synonym: "hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" RELATED [GARD:0000647]
xref: GARD:647 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1028", source="Orphanet:1028/attributed", source="Orphanet:1028/ntbt"}
xref: MEDGEN:400184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538245 {source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"}
xref: OMIM:104570 {source="MONDO:equivalentTo", source="Orphanet:1028", source="Orphanet:1028/e"}
xref: Orphanet:1028 {source="OMIM:104570", source="MONDO:equivalentTo"}
xref: SCTID:715404000 {source="MONDO:equivalentTo"}
xref: UMLS:C1863006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400184"}
is_a: MONDO:0019287 {source="Orphanet:1028"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome" xsd:anyURI {source="GARD:0000647"}

[Term]
id: MONDO:0007096
name: amenorrhea-galactorrhea syndrome
synonym: "amenorrhea-galactorrhea syndrome" EXACT [OMIM:104600]
xref: ICD9:253.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537072 {source="MONDO:equivalentTo"}
xref: OMIM:104600 {source="MONDO:equivalentTo"}
xref: SCTID:64678009 {source="MONDO:equivalentTo"}
xref: UMLS:C0271556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78775"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007097
name: Finnish type amyloidosis
subset: gard_rare {source="GARD:2339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85448"}
subset: orphanet_rare {source="Orphanet:85448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGel amyloidosis" RELATED [Orphanet:85448]
synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" RELATED [OMIM:105120]
synonym: "amyloidosis 5" RELATED [OMIM:105120]
synonym: "amyloidosis due to mutant gelsolin" RELATED [OMIM:105120]
synonym: "amyloidosis V" RELATED [GARD:0002339]
synonym: "amyloidosis, Finnish type" RELATED [OMIM:105120]
synonym: "amyloidosis, MERETOJA type" EXACT [DOID:0050637]
synonym: "amyloidosis, Meretoja type" RELATED [OMIM:105120]
synonym: "cerebral amyloid angiopathy, Gsn-related" RELATED [OMIM:105120]
synonym: "corneal dystrophy, lattice type 2" RELATED [OMIM:105120]
synonym: "familial amyloid polyneuropathy type IV" EXACT [Orphanet:85448]
synonym: "familial amyloidosis, Finnish type" EXACT [Orphanet:85448]
synonym: "gelsolin amyloidosis" EXACT [Orphanet:85448]
synonym: "hereditary amyloidosis, Finnish type" EXACT [Orphanet:85448]
synonym: "hereditary gelsolin amyloidosis" RELATED [GARD:0002339]
synonym: "lattice corneal dystrophy type II Finnish" RELATED [GARD:0002339]
synonym: "lattice corneal dystrophy, type 2" RELATED [OMIM:105120]
synonym: "meretoja syndrome" EXACT []
synonym: "meretoja type amyloidosis" RELATED []
xref: DOID:0050637 {source="MONDO:equivalentTo"}
xref: GARD:2339 {source="MONDO:GARD"}
xref: ICD10CM:E85.1 {source="Orphanet:85448", source="Orphanet:85448/attributed", source="Orphanet:85448/ntbt"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:301243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537459 {source="MONDO:equivalentTo"}
xref: NANDO:1201063 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:105120 {source="MONDO:equivalentTo", source="Orphanet:85448", source="DOID:0050637", source="Orphanet:85448/e"}
xref: Orphanet:85448 {source="OMIM:105120", source="MONDO:equivalentTo"}
xref: SCTID:419398009 {source="MONDO:equivalentTo"}
xref: UMLS:C1622345 {source="MEDGEN:301243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0018102 {source="MESH:C537459", source="MONDO:Redundant", source="Orphanet:85448/inferred"} ! corneal dystrophy
is_a: MONDO:0018634 {source="Orphanet:85448"} ! hereditary amyloidosis
is_a: MONDO:0019065 {source="DOID:0050637", source="MESH:C537459", source="MONDO:Redundant", source="Orphanet:85448"} ! amyloidosis
is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4620 {source="MONDO:mim2gene_medgen"} ! GSN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0007098
name: ACys amyloidosis
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." [Orphanet:100008]
subset: gard_rare {source="GARD:16930", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis 6" RELATED [OMIM:105150]
synonym: "amyloidosis VI" EXACT [DOID:0070027]
synonym: "amyloidosis, Cerebroarterial, Icelandic type" EXACT [DOID:0070027]
synonym: "cerebral amyloid angiopathy" BROAD [OMIM:105150, OMIM:genemap2]
synonym: "cerebral amyloid angiopathy, CST3-related" RELATED [OMIM:105150]
synonym: "cerebral hemorrhage, hereditary, with amyloidosis" EXACT [DOID:0070027, OMIM:105150]
synonym: "CST3-related amyloidosis" EXACT [Orphanet:100008]
synonym: "CST3-related cerebral amyloid angiopathy" RELATED [DOID:0070027]
synonym: "cystatin amyloidosis" EXACT [Orphanet:100008]
synonym: "HCHWA" RELATED EXCLUDE [DOID:0070027]
synonym: "HCHWA, Icelandic type" EXACT [Orphanet:100008]
synonym: "hereditary cerebral haemorrhage with amyloidosis" EXACT OMO:0003005 []
synonym: "hereditary cerebral haemorrhage with amyloidosis, Icelandic type" EXACT OMO:0003005 []
synonym: "hereditary cerebral hemorrhage with amyloidosis" EXACT [DOID:0070027, OMIM:105150]
synonym: "hereditary cerebral hemorrhage with amyloidosis, Icelandic type" EXACT [Orphanet:100008]
synonym: "hereditary cystatin C amyloid angiopathy" EXACT [Orphanet:100008]
xref: DOID:0070027 {source="MONDO:equivalentTo"}
xref: GARD:16930 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:100008", source="Orphanet:100008/attributed", source="Orphanet:100008/ntbt"}
xref: ICD10EXP:I68.0* {source="Orphanet:100008", source="Orphanet:100008/attributed", source="Orphanet:100008/ntbt"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:437.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:279656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:105150 {source="DOID:0070027", source="MONDO:equivalentTo", source="Orphanet:100008", source="Orphanet:100008/e"}
xref: Orphanet:100008 {source="MONDO:equivalentTo", source="OMIM:105150"}
xref: Orphanet:85458 {source="OMIM:105150"}
xref: SCTID:703220002 {source="MONDO:equivalentTo"}
xref: UMLS:C1527338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:279656"}
is_a: MONDO:0005620 {source="DC-OMIM:105150", source="DOID:0070027", source="Orphanet:100008"} ! cerebral amyloid angiopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2475 {source="MONDO:mim2gene_medgen"} ! CST3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007099
name: familial visceral amyloidosis
subset: gard_rare {source="GARD:8282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85450"}
subset: orphanet_rare {source="Orphanet:85450"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis 8" RELATED [OMIM:105200]
synonym: "amyloidosis familial renal" RELATED [GARD:0008282]
synonym: "amyloidosis familial visceral" RELATED [GARD:0008282]
synonym: "amyloidosis systemic nonneuropathic" RELATED [GARD:0008282]
synonym: "amyloidosis VIII" RELATED [GARD:0008282]
synonym: "amyloidosis, 3 or more types" EXACT [OMIM:105200, OMIM:genemap2]
synonym: "amyloidosis, familial renal" EXACT [DOID:0050636]
synonym: "amyloidosis, familial visceral" RELATED [OMIM:105200]
synonym: "amyloidosis, Ostertag type" EXACT [Orphanet:85450]
synonym: "amyloidosis, renal" EXACT [OMIM:105200, OMIM:genemap2]
synonym: "amyloidosis, systemic Nonneuropathic" RELATED [OMIM:105200]
synonym: "familial amyloid nephropathy" EXACT [Orphanet:85450]
synonym: "familial renal amyloidosis" EXACT [Orphanet:85450]
synonym: "German type amyloidosis" EXACT [DOID:0050636, OMIM:105200]
synonym: "hereditary amyloid nephropathy" EXACT [Orphanet:85450]
synonym: "hereditary amyloidosis with primary renal involement" RELATED [GARD:0008282]
synonym: "hereditary renal amyloidosis" EXACT [Orphanet:85450]
synonym: "Ostertag type amyloidosis" EXACT [DOID:0050636, OMIM:105200]
synonym: "systemic nonneuropathic amyloidosis" EXACT [DOID:0050636]
xref: DOID:0050636 {source="MONDO:equivalentTo"}
xref: GARD:8282 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:85450/ntbt", source="Orphanet:85450/inclusion", source="Orphanet:85450"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538249 {source="MONDO:equivalentTo"}
xref: NANDO:2200138 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:105200 {source="Orphanet:85450/e", source="MONDO:equivalentTo", source="DOID:0050636", source="Orphanet:85450"}
xref: Orphanet:85450 {source="OMIM:105200", source="MONDO:equivalentTo"}
xref: SCTID:66451004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268389 {source="MONDO:equivalentTo", source="MEDGEN:82799", source="MONDO:MEDGEN"}
is_a: MONDO:0018634 {source="MESH:C538249", source="MONDO:Redundant", source="Orphanet:85450"} ! hereditary amyloidosis
is_a: MONDO:0019052 {source="MESH:C538249/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! inborn errors of metabolism
is_a: MONDO:0019065 {source="DOID:0050636", source="MESH:C538249/inferred", source="MONDO:Redundant", source="Orphanet:85450"} ! amyloidosis
relationship: excluded_subClassOf MONDO:0005240 {source="Orphanet:85450/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85450", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral" xsd:anyURI {source="GARD:0008282"}

[Term]
id: MONDO:0007100
name: familial amyloid neuropathy
def: "A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement." [Orphanet:271861]
subset: gard_rare {source="GARD:21017", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:271861"}
subset: orphanet_rare {source="Orphanet:271861"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloid neuropathies, familial" EXACT [NCIT:C84554]
synonym: "amyloidosis, hereditary, transthyretin-related" EXACT [DOID:0050638]
synonym: "ATTRv amyloidosis" EXACT [Orphanet:271861]
synonym: "Corino de Andrade's disease" EXACT [DOID:0050638]
synonym: "familial amyloid neuropathy" EXACT CLINGEN_LABEL []
synonym: "familial amyloid polyneuropathy" EXACT [DOID:0050638]
synonym: "familial transthyretin amyloidosis" EXACT [DOID:0050638]
synonym: "familial transthyretin-related amyloidosis" EXACT [Orphanet:271861]
synonym: "familial TTR-related amyloidosis" EXACT [Orphanet:271861]
synonym: "hATTR" EXACT ABBREVIATION [Orphanet:271861]
synonym: "hereditary amyloidosis, transthyretin-related" RELATED [OMIM:105210]
synonym: "hereditary transthyretin amyloid polyneuropathy" EXACT [Orphanet:271861]
synonym: "hereditary TTR amyloid polyneuropathy" EXACT [Orphanet:271861]
synonym: "hereditary TTR amyloidosis" EXACT [Orphanet:271861]
synonym: "paramyloidosis" EXACT [https://globalgenes.org/raredaily/today-is-paramyloidosis-observanc-day/]
synonym: "transthyretin-related hereditary amyloidosis" EXACT [DOID:0050638]
synonym: "TTR amyloidosis" EXACT [DOID:0050638]
xref: DOID:0050638 {source="MONDO:equivalentTo"}
xref: DOID:0050761 {source="MONDO:equivalentObsolete"}
xref: EFO:0004129 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21017 {source="MONDO:GARD"}
xref: ICD10EXP:E85.1+ {source="Orphanet:85447/inclusion", source="Orphanet:85447", source="Orphanet:85447/ntbt"}
xref: ICD10EXP:G63.3* {source="Orphanet:85447/inclusion", source="Orphanet:85447", source="Orphanet:85447/e"}
xref: icd11.foundation:807065795 {source="MONDO:equivalentTo", source="Orphanet:271861", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:414031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567782 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:1200214 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1201060 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84554 {source="EFO:0004129", source="MONDO:equivalentTo"}
xref: OMIM:105210 {source="EFO:0004129", source="DOID:0050638", source="MONDO:mondoIsBroaderThanSource"}
xref: OMIMPS:105210 {source="MONDO:equivalentTo"}
xref: Orphanet:271861 {source="OMIM:105210", source="MONDO:equivalentTo"}
xref: Orphanet:85451 {source="OMIM:105210"}
xref: SCTID:42295001 {source="MONDO:equivalentTo"}
xref: UMLS:C2751492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414031"}
is_a: MONDO:0019065 {source="DOID:0050638", source="DOID:0050761"} ! amyloidosis
is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105210"} ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="MONDO:mim2gene_medgen"} ! TTR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7330" xsd:anyURI

[Term]
id: MONDO:0007101
name: familial primary localized cutaneous amyloidosis
subset: gard_rare {source="GARD:17533", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:353220"}
subset: orphanet_rare {source="Orphanet:353220"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FPLCA" EXACT ABBREVIATION [Orphanet:353220]
synonym: "hereditary primary cutaneous amyloidosis" EXACT [MONDO:patterns/hereditary]
synonym: "primary localised cutaneous amyloidosis" RELATED OMO:0003005 []
synonym: "primary localized cutaneous amyloidosis" RELATED [GARD:0000132]
xref: GARD:17533 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"}
xref: ICD10EXP:L99.0* {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"}
xref: MEDGEN:725603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562643 {source="MONDO:equivalentTo"}
xref: OMIMPS:105250 {source="MONDO:equivalentTo"}
xref: Orphanet:137807 {source="GARD:0000132"}
xref: Orphanet:353220 {source="MONDO:equivalentTo", source="OMIM:105250"}
xref: UMLS:C1304242 {source="MEDGEN:725603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0015301 {source="DC-OMIM:105250", source="MONDO:Redundant", source="OMIM:105250", source="Orphanet:353220"} ! primary cutaneous amyloidosis
is_a: MONDO:0018634 {source="MESH:C562643", source="MONDO:Redundant"} ! hereditary amyloidosis
intersection_of: MONDO:0015301 ! primary cutaneous amyloidosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105250"} ! inherited

[Term]
id: MONDO:0007102
name: amyotrophic dystonic paraplegia
synonym: "amyotrophic dystonic paraplegia" EXACT [OMIM:105300]
xref: MEDGEN:354871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566292 {source="MONDO:equivalentTo"}
xref: OMIM:105300 {source="MONDO:equivalentTo"}
xref: UMLS:C1862956 {source="MEDGEN:354871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566292/inferred"} ! hereditary disease

[Term]
id: MONDO:0007103
name: amyotrophic lateral sclerosis type 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS1" EXACT ABBREVIATION [DOID:0060193, MESH:C531617, MONDO:Lexical, OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1" EXACT [DOID:0060193, MONDO:Lexical, OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1, autosomal dominant" RELATED [OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included" RELATED [MESH:C531617]
synonym: "amyotrophic lateral sclerosis 1, autosomal recessive" RELATED [OMIM:105400]
synonym: "amyotrophic lateral sclerosis 1, familial" RELATED [MESH:C531617, OMIM:105400]
synonym: "amyotrophic lateral sclerosis type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:105400]
synonym: "amyotrophic lateral sclerosis, autosomal dominant" RELATED [MESH:C531617]
synonym: "amyotrophic lateral sclerosis, familial" RELATED [MESH:C531617]
synonym: "amyotrophic lateral sclerosis, sporadic" RELATED [MESH:C531617, OMIM:105400]
synonym: "amyotrophic lateral sclerosis, sporadic, included" RELATED [MESH:C531617]
synonym: "amyotrophic lateral sclerosis, susceptibility to" RELATED [OMIM:105400, OMIM:genemap2]
synonym: "FALS" RELATED ABBREVIATION [MESH:C531617]
xref: DOID:0060193 {source="MONDO:equivalentTo"}
xref: ICD10CM:G12.2 {source="DOID:0060193"}
xref: MEDGEN:400169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531617 {source="MONDO:equivalentTo"}
xref: OMIM:105400 {source="MEDIC:C531617", source="MONDO:equivalentTo", source="DOID:0060193"}
xref: Orphanet:803 {source="OMIM:105400"}
xref: UMLS:C1862939 {source="MEDGEN:400169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DOID:0060193", source="MESH:C531617", source="MONDO:Redundant", source="OMIM:105400"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11179 ! SOD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11179 {source="MONDO:mim2gene_medgen"} ! SOD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007104
name: amyotrophic lateral sclerosis-parkinsonism-dementia complex
subset: gard_rare {source="GARD:9239", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90020"}
subset: orphanet_rare {source="Orphanet:90020"}
subset: rare
synonym: "ALS-pDC" RELATED [OMIM:105500]
synonym: "amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam" RELATED [GARD:0009239]
synonym: "amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome" EXACT [Orphanet:90020]
synonym: "amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1" RELATED [OMIM:105500]
synonym: "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam" RELATED [OMIM:105500]
synonym: "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1" EXACT [MONDORULE:1, OMIM:105500]
synonym: "amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to" RELATED [OMIM:105500, OMIM:genemap2]
synonym: "Guam disease" EXACT [OMIM:105500, Orphanet:90020]
synonym: "Lytico-Bodig disease" EXACT [Orphanet:90020]
synonym: "Lytigo-Bodig disease" EXACT [https://doi.org/10.1016/S0140-6736(00)02672-6]
synonym: "Parkinsonism-dementia-ALS complex" EXACT [Orphanet:90020]
synonym: "PDALS" EXACT ABBREVIATION [Orphanet:90020]
xref: DOID:0111246 {source="MONDO:equivalentTo"}
xref: GARD:9239 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:90020", source="MONDO:relatedTo", source="Orphanet:90020/ntbt"}
xref: MEDGEN:107775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:105500 {source="Orphanet:90020", source="MONDO:equivalentTo", source="Orphanet:90020/e"}
xref: Orphanet:90020 {source="MONDO:equivalentTo", source="OMIM:105500"}
xref: UMLS:C0543859 {source="MEDGEN:107775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
relationship: disease_has_feature HP:0000726 ! Dementia
relationship: disease_has_feature HP:0001300 ! Parkinsonism
relationship: disease_has_feature MONDO:0004976 ! amyotrophic lateral sclerosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17994 {source="MONDO:mim2gene_medgen"} ! TRPM7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007105
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1
def: "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18396", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALSFTD" EXACT ABBREVIATION [DOID:0060213, OMIM:105550]
synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [DOID:0060213, OMIM:105550]
synonym: "C9ORF72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:design_pattern]
synonym: "C9orf72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis" RELATED [OMIM:105550]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT CLINGEN_LABEL [DOID:0060213, MONDO:Lexical, OMIM:105550]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1" EXACT [MONDORULE:1, OMIM:105550]
synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [DOID:0060213, OMIM:105550]
synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72" EXACT [MONDO:design_pattern]
synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9orf72" EXACT []
synonym: "FTDALS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105550]
synonym: "FTDMND" EXACT ABBREVIATION [DOID:0060213, OMIM:105550]
xref: DOID:0060213 {source="MONDO:equivalentTo"}
xref: GARD:18396 {source="MONDO:GARD"}
xref: MEDGEN:854771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168756 {source="MONDO:equivalentTo"}
xref: OMIM:105550 {source="MONDO:equivalentTo"}
xref: Orphanet:275872 {source="OMIM:105550"}
xref: UMLS:C3888102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854771"}
is_a: MONDO:0005144 {source="OMIM:105550"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017161 {source="OMIM:105550", source="Orphanet:275872/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! frontotemporal dementia with motor neuron disease
is_a: MONDO:0030923 {source="OMIM:105550"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis
intersection_of: MONDO:0017161 ! frontotemporal dementia with motor neuron disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28337 ! C9orf72
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28337 {source="MONDO:mim2gene_medgen"} ! C9orf72

[Term]
id: MONDO:0007106
name: anal sphincter dysplasia
synonym: "anal sphincter dysplasia" EXACT [MONDO:Lexical, OMIM:105563]
synonym: "ASDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105563]
xref: MEDGEN:350794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538254 {source="MONDO:equivalentTo"}
xref: OMIM:105563 {source="MONDO:equivalentTo"}
xref: UMLS:C1862936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350794"}
is_a: MONDO:0003847 {source="MESH:C538254/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9822/anal-sphincter-dysplasia" xsd:anyURI {source="GARD:0009822"}

[Term]
id: MONDO:0007107
name: anal sphincter myopathy, internal
synonym: "anal sphincter myopathy, internal" EXACT [OMIM:105565]
synonym: "proctalgia fugax due to anal sphincter myopathy" RELATED [OMIM:105565]
xref: MEDGEN:349633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566287 {source="MONDO:equivalentTo"}
xref: OMIM:105565 {source="MONDO:equivalentTo"}
xref: UMLS:C1862935 {source="MEDGEN:349633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007108
name: anal canal carcinoma
def: "A carcinoma that arises from epithelial cells of the anal canal" [https://orcid.org/0000-0002-6601-2165]
subset: disease_grouping
subset: gard_rare {source="GARD:21772", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:424013"}
subset: rare
synonym: "anal canal and perianal gland cancer" EXACT [NCIT:C7489]
synonym: "anal canal and perianal gland carcinoma" EXACT [DOID:6126, NCIT:C7489]
synonym: "anal canal cancer" BROAD [NCIT:C7489]
synonym: "anal canal carcinoma" EXACT [MONDO:patterns/location, NCIT:C7489, OMIM:105580]
synonym: "carcinoma of anal canal" EXACT [DOID:6126, MONDO:patterns/carcinoma]
synonym: "carcinoma of the anal canal" EXACT [MONDO:0018517]
synonym: "cloacogenic carcinoma" RELATED [OMIM:105580]
xref: DOID:6126 {source="MONDO:equivalentTo"}
xref: GARD:21772 {source="MONDO:GARD"}
xref: MEDGEN:107559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563020 {source="DOID:6126", source="MONDO:relatedTo"}
xref: NCIT:C7489 {source="DOID:6126", source="MONDO:equivalentTo"}
xref: OMIM:105580 {source="DOID:6126", source="MONDO:equivalentTo"}
xref: Orphanet:424013 {source="MONDO:equivalentTo"}
xref: SCTID:285310000 {source="DOID:6126", source="MONDO:equivalentTo"}
xref: UMLS:C0563211 {source="MONDO:equivalentTo", source="MEDGEN:107559", source="MONDO:MEDGEN"}
is_a: MONDO:0000405 {source="DOID:6126", source="MONDO:Entailed", source="MONDO:Redundant"} ! anal canal cancer
is_a: MONDO:0003199 {source="NCIT:C7489"} ! anal carcinoma
is_a: MONDO:0018516 {source="MONDO:Redundant", source="Orphanet:424013"} ! epithelial tumor of anal canal
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000159 ! anal canal

[Term]
id: MONDO:0007109
name: congenital dyserythropoietic anemia type 3
def: "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." [Orphanet:98870]
subset: gard_rare {source="GARD:2002", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98870"}
subset: orphanet_rare {source="Orphanet:98870"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaemia with multinucleated erythroblasts" RELATED OMO:0003005 []
synonym: "anemia with multinucleated erythroblasts" RELATED [OMIM:105600]
synonym: "anemia, congenital dyserythropoietic, type III" RELATED [MONDO:Lexical, OMIM:105600]
synonym: "CDA 3" RELATED [OMIM:105600]
synonym: "CDA III" EXACT [Orphanet:98870]
synonym: "CDA type 3" EXACT [Orphanet:98870]
synonym: "CDA type III" EXACT [Orphanet:98870]
synonym: "CDAN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105600]
synonym: "congenital dyserythropoietic anemia type 3" EXACT [Orphanet:98870]
synonym: "dyserythropoietic anemia, congenital type 3" RELATED [GARD:0002002]
synonym: "dyserythropoietic Anemia, congenital, type 3" RELATED [OMIM:105600]
synonym: "dyserythropoietic anemia, congenital, type III" EXACT [OMIM:105600, OMIM:genemap2]
synonym: "Erythroreticulosis, hereditary benign" RELATED [OMIM:105600]
xref: DOID:0111399 {source="MONDO:equivalentTo"}
xref: GARD:2002 {source="MONDO:GARD"}
xref: ICD10CM:D64.4 {source="Orphanet:98870/attributed", source="Orphanet:98870/ntbt", source="Orphanet:98870"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1801596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200888 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:105600 {source="Orphanet:98870/e", source="MONDO:equivalentTo", source="Orphanet:98870"}
xref: Orphanet:98870 {source="MONDO:equivalentTo", source="OMIM:105600"}
xref: SCTID:26409005 {source="MONDO:equivalentTo"}
xref: UMLS:C5676874 {source="MEDGEN:1801596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019403 {source="DC-OMIM:105600", source="OMIM:105600", source="Orphanet:98870"} ! congenital dyserythropoietic anemia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007110
name: Diamond-Blackfan anemia 1
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Aase syndrome" RELATED [OMIM:105650]
synonym: "Aase-Smith syndrome 2" RELATED [OMIM:105650]
synonym: "anemia, congenital erythroid hypoplastic" RELATED [OMIM:105650]
synonym: "anemia, congenital hypoplastic, of Blackfan and Diamond" RELATED [OMIM:105650]
synonym: "aregenerative Anemia, chronic congenital" RELATED [OMIM:105650]
synonym: "Blackfan-Diamond syndrome" RELATED [OMIM:105650]
synonym: "DBA" BROAD ABBREVIATION [OMIM:105650]
synonym: "DBA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105650]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPS19" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 1" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:105650]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS19" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 1" EXACT [MONDORULE:1, OMIM:105650]
synonym: "erythrogenesis imperfecta" RELATED [OMIM:105650]
synonym: "Red cell aplasia, Pure, hereditary" RELATED [OMIM:105650]
synonym: "RPS19 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPS19 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111895 {source="MONDO:equivalentTo"}
xref: GARD:15039 {source="MONDO:GARD"}
xref: MEDGEN:390966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567302 {source="MONDO:equivalentTo"}
xref: NCIT:C176911 {source="MONDO:equivalentTo"}
xref: OMIM:105650 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:105650"}
xref: UMLS:C2676137 {source="MEDGEN:390966", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="DC-OMIM:105650", source="MONDO:Redundant", source="OMIM:105650"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10402 ! RPS19
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10402 {source="MONDO:mim2gene_medgen"} ! RPS19

[Term]
id: MONDO:0007111
name: aneurysm, intracranial berry type 1
subset: gard_rare {source="GARD:18320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial berry, 1" RELATED [MONDO:Lexical, OMIM:105800]
synonym: "aneurysmal subarachnoid hemorrhage, familial" RELATED [OMIM:105800]
synonym: "ANIB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105800]
xref: DOID:0080964 {source="MONDO:equivalentTo"}
xref: GARD:18320 {source="MONDO:GARD"}
xref: MEDGEN:354864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566284 {source="MONDO:equivalentTo"}
xref: OMIM:105800 {source="MONDO:equivalentTo"}
xref: UMLS:C1862932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354864"}
is_a: MONDO:0016483 {source="DC-OMIM:105800", source="OMIM:105800"} ! intracranial berry aneurysm

[Term]
id: MONDO:0007112
name: interventricular septum aneurysm
def: "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." [Orphanet:99092]
subset: gard_rare {source="GARD:16895", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99092"}
subset: ordo_morphological_anomaly {source="Orphanet:99092"}
subset: orphanet_rare {source="Orphanet:99092"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aneurysm of interventricular septum" RELATED [OMIM:105805]
xref: GARD:16895 {source="MONDO:GARD"}
xref: ICD10CM:Q21.0 {source="Orphanet:99092/attributed", source="Orphanet:99092/ntbt", source="Orphanet:99092"}
xref: MEDGEN:234648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563239 {source="MONDO:equivalentTo"}
xref: OMIM:105805 {source="Orphanet:99092", source="MONDO:equivalentTo", source="Orphanet:99092/e"}
xref: Orphanet:99092 {source="MONDO:equivalentTo", source="OMIM:105805"}
xref: UMLS:C1387721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234648"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0007113
name: Angelman syndrome
def: "A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." [https://orcid.org/0000-0001-5208-3432, Orphanet:72]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:782"}
subset: ordo_disorder {source="Orphanet:72"}
subset: ordo_malformation_syndrome {source="Orphanet:72"}
subset: orphanet_rare {source="Orphanet:72"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Angelman syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:105830]
synonym: "Angelman syndrome (Type 1)" NARROW [DECIPHER:4]
synonym: "Angelman syndrome (Type 2)" NARROW [DECIPHER:54]
synonym: "Angelman syndrome chromosome region" RELATED [OMIM:105830]
synonym: "AS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105830]
synonym: "happy puppet syndrome" EXACT DEPRECATED [DOID:1932, OMIM:105830]
synonym: "happy puppet syndrome (formerly)" RELATED DEPRECATED [GARD:0005810]
synonym: "happy puppet syndrome, formerly" RELATED DEPRECATED [OMIM:105830]
synonym: "puppetlike syndrome" EXACT DEPRECATED [DOID:1932]
xref: DECIPHER:4 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DECIPHER:54 {source="MONDO:equivalentTo"}
xref: DOID:1932 {source="MONDO:equivalentTo"}
xref: GARD:5810 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:72/ntbt", source="DOID:1932", source="Orphanet:72/inclusion", source="Orphanet:72"}
xref: ICD10CM:Q93.51 {source="MONDO:equivalentTo", source="https://www.angelmanbiomarkers.org/special-announcement-angelman-specific-icd-10-code-q93-51-is-finally-here/"}
xref: icd11.foundation:1106558408 {source="MONDO:equivalentTo", source="Orphanet:72"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049004 {source="Orphanet:72/e", source="Orphanet:72"}
xref: MEDGEN:58144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531619 {source="MONDO:equivalentTo"}
xref: MESH:D017204 {source="Orphanet:72/e", source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72"}
xref: NANDO:1200686 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200960 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75462 {source="MONDO:equivalentTo", source="DOID:1932"}
xref: NORD:782 {source="MONDO:NORD"}
xref: OMIM:105830 {source="Orphanet:72/e", source="MONDO:equivalentTo", source="DOID:1932", source="Orphanet:72"}
xref: Orphanet:72 {source="MONDO:equivalentTo", source="OMIM:105830"}
xref: SCTID:76880004 {source="MONDO:equivalentTo", source="DOID:1932"}
xref: UMLS:C0162635 {source="MEDGEN:58144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75462"} ! syndromic disease
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:72", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0019040 {source="DOID:1932", source="MESH:C531619/inferred", source="MESH:D017204", source="https://orcid.org/0000-0001-5208-3432"} ! chromosomal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015955", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12496 {source="MONDO:mim2gene_medgen"} ! UBE3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3941" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0007114
name: Angel-shaped phalango-epiphyseal dysplasia
def: "A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." [https://orcid.org/0000-0001-5208-3432, Orphanet:63442]
subset: gard_rare {source="GARD:671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63442"}
subset: ordo_malformation_syndrome {source="Orphanet:63442"}
subset: orphanet_rare {source="Orphanet:63442"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Angel shaped phalangoepiphyseal dysplasia" RELATED [GARD:0000671]
synonym: "Angel-shaped phalangoepiphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:105835]
synonym: "ASPED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105835, Orphanet:63442]
xref: GARD:671 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:63442", source="Orphanet:63442/attributed", source="Orphanet:63442/ntbt"}
xref: MedDRA:10066017 {source="Orphanet:63442", source="Orphanet:63442/e"}
xref: MEDGEN:366028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536361 {source="MONDO:equivalentTo"}
xref: OMIM:105835 {source="Orphanet:63442", source="MONDO:equivalentTo", source="Orphanet:63442/e"}
xref: Orphanet:63442 {source="MONDO:equivalentTo", source="OMIM:105835"}
xref: SCTID:720984008 {source="MONDO:equivalentTo"}
xref: UMLS:C1739384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:366028"}
is_a: MONDO:0019695 {source="Orphanet:63442", source="PMID:31633310"} ! acromelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI

[Term]
id: MONDO:0007115
name: angioma serpiginosum, autosomal dominant
subset: gard_rare {source="GARD:10189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "angioma serpiginosum, autosomal dominant" EXACT [OMIM:106050]
synonym: "autosomal dominant angioma serpiginosum" RELATED [GARD:0010189]
xref: GARD:10189 {source="MONDO:GARD"}
xref: MEDGEN:370186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536365 {source="MONDO:equivalentTo"}
xref: OMIM:106050 {source="MONDO:equivalentTo"}
xref: Orphanet:95429 {source="OMIM:106050"}
xref: UMLS:C1970130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370186"}
is_a: MONDO:0019803 {source="DC-OMIM:106050"} ! angioma serpiginosum
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10189/angioma-serpiginosum-autosomal-dominant" xsd:anyURI {source="GARD:0010189"}

[Term]
id: MONDO:0007116
name: hereditary neurocutaneous angioma
def: "Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant." [Orphanet:1062]
subset: gard_rare {source="GARD:676", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1062"}
subset: orphanet_rare {source="Orphanet:1062"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioma hereditary neurocutaneous" RELATED [GARD:0000676]
synonym: "angioma, hereditary neurocutaneous" RELATED [OMIM:106070]
synonym: "hemangiomatosis, disseminated" RELATED [OMIM:106070]
synonym: "hereditary neurocutaneous angioma" EXACT [GARD:0000676]
synonym: "hereditary neurocutaneous malformation" RELATED [Orphanet:1062]
synonym: "spinal arterial Venous malformations with cutaneous hemangiomas" RELATED [OMIM:106070]
xref: GARD:676 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:1062/attributed", source="Orphanet:1062/ntbt", source="Orphanet:1062"}
xref: MEDGEN:226898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536364 {source="Orphanet:1062/e", source="Orphanet:1062"}
xref: OMIM:106070 {source="Orphanet:1062/e", source="MONDO:equivalentTo", source="Orphanet:1062"}
xref: Orphanet:1062 {source="MONDO:equivalentTo", source="OMIM:106070"}
xref: UMLS:C1275084 {source="MONDO:equivalentTo", source="MEDGEN:226898", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021147 ! disorder of development or morphogenesis
is_a: MONDO:0024296 {source="Orphanet:1062"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0007117
name: obsolete angioedema, hereditary, type 1/2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1628" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0033946

[Term]
id: MONDO:0007118
name: isolated anhidrosis with normal sweat glands
def: "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17843", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468666"}
subset: orphanet_rare {source="Orphanet:468666"}
subset: rare
synonym: "ANHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106190]
synonym: "anhidrosis caused by mutation in ITPR2" EXACT [MONDO:design_pattern]
synonym: "anhidrosis, isolated, with normal sweat glands" RELATED [MONDO:Lexical, OMIM:106190]
synonym: "Dann-Epstein-Sohar syndrome" EXACT [DOID:0060603, OMIM:106190]
synonym: "isolated generalised anhidrosis with normal sweat glands" RELATED OMO:0003005 []
synonym: "isolated generalized anhidrosis with normal sweat glands" RELATED [Orphanet:468666]
synonym: "ITPR2 anhidrosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060603 {source="MONDO:equivalentTo"}
xref: GARD:17843 {source="MONDO:GARD"}
xref: MEDGEN:1800259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:106190 {source="Orphanet:468666", source="MONDO:equivalentTo", source="DOID:0060603"}
xref: Orphanet:468666 {source="MONDO:equivalentTo"}
xref: UMLS:C5568836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800259"}
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0006527 {source="DOID:0060603", source="MONDO:Entailed", source="MONDO:Redundant"} ! anhidrosis
is_a: MONDO:0019296 {source="Orphanet:468666"} ! subcutaneous tissue disorder
is_a: MONDO:0021154 {source="Orphanet:468666"} ! dermis disorder
intersection_of: MONDO:0006527 ! anhidrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6181 ! ITPR2
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6181 {source="MONDO:mim2gene_medgen"} ! ITPR2

[Term]
id: MONDO:0007119
name: isolated aniridia
def: "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." [Orphanet:250923]
subset: gard_rare {source="GARD:5816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:250923"}
subset: ordo_morphological_anomaly {source="Orphanet:250923"}
subset: orphanet_rare {source="Orphanet:250923"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "aniridia without systemic involvement" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK1360/]
synonym: "nonsyndromic aniridia" EXACT [MONDO:patterns/isolated]
xref: GARD:5816 {source="MONDO:GARD"}
xref: ICD10CM:Q13.1 {source="Orphanet:250923/attributed", source="Orphanet:250923/ntbt", source="Orphanet:250923"}
xref: icd11.foundation:970699895 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:250923"}
xref: OMIMPS:106210 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:250923 {source="OMIM:106210", source="MONDO:equivalentTo"}
is_a: MONDO:0019172 {source="DC-OMIM:106210", source="MONDO:Redundant", source="Orphanet:250923"} ! aniridia
intersection_of: MONDO:0019172 ! aniridia
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:106210"} ! inherited

[Term]
id: MONDO:0007120
name: aniridia-absent patella syndrome
def: "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." [Orphanet:1069]
subset: gard_rare {source="GARD:685", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1069"}
subset: ordo_malformation_syndrome {source="Orphanet:1069"}
subset: orphanet_rare {source="Orphanet:1069"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aniridia absent patella" RELATED [GARD:0000685]
synonym: "aniridia and absent patella" RELATED [OMIM:106220]
synonym: "familial syndrome of aniridia and absence of the patella" RELATED [GARD:0000685]
xref: GARD:685 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1069/attributed", source="Orphanet:1069/ntbt", source="Orphanet:1069"}
xref: MEDGEN:400149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566281 {source="MONDO:equivalentTo"}
xref: OMIM:106220 {source="GARD:0000685", source="Orphanet:1069", source="MONDO:equivalentTo", source="Orphanet:1069/e"}
xref: Orphanet:1069 {source="OMIM:106220", source="GARD:0000685", source="MONDO:equivalentTo"}
xref: UMLS:C1862868 {source="MEDGEN:400149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella" xsd:anyURI {source="GARD:0000685"}

[Term]
id: MONDO:0007121
name: aniridia, microcornea, and spontaneously Reabsorbed cataract
synonym: "aniridia, microcornea, and spontaneously Reabsorbed cataract" EXACT [OMIM:106230]
xref: MEDGEN:350777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566280 {source="MONDO:equivalentTo"}
xref: OMIM:106230 {source="MONDO:equivalentTo"}
xref: UMLS:C1862867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350777"}
is_a: MONDO:0003847 {source="MESH:C566280/inferred"} ! hereditary disease

[Term]
id: MONDO:0007122
name: anisocoria
def: "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease." [MESH:D015875]
synonym: "anisocoria" EXACT [MONDO:ambiguous, OMIM:106240]
synonym: "anisocoria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0009916 {source="MONDO:otherHierarchy"}
xref: ICD9:379.41 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015875 {source="MONDO:equivalentTo"}
xref: OMIM:106240 {source="MONDO:equivalentTo"}
xref: SCTID:13045009 {source="MONDO:equivalentTo"}
xref: UMLS:C0003079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1944"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "anisocoria (disease)" xsd:string

[Term]
id: MONDO:0007123
name: ankyloblepharon filiforme adnatum-cleft palate syndrome
subset: gard_rare {source="GARD:696", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1072"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1072"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AFA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106250]
synonym: "ankyloblepharon filiforme adnatum" EXACT [Orphanet:1072]
synonym: "ankyloblepharon filiforme adnatum and cleft palate" RELATED [MONDO:Lexical, OMIM:106250]
synonym: "ankyloblepharon filiforme adnatum cleft palate" RELATED [GARD:0000696]
synonym: "ankyloblepharon filiforme congenitum" RELATED [GARD:0000696]
synonym: "congenital filiform fusion of the eyelids with cleft palate and/or cleft lip" RELATED [GARD:0000696]
xref: GARD:696 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1072/attributed", source="Orphanet:1072/ntbt", source="Orphanet:1072"}
xref: MEDGEN:400148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536373 {source="Orphanet:1072/e", source="MONDO:equivalentTo", source="Orphanet:1072"}
xref: OMIM:106250 {source="Orphanet:1072/e", source="MONDO:equivalentTo", source="Orphanet:1072"}
xref: Orphanet:1072 {source="MONDO:equivalentTo", source="OMIM:106250"}
xref: SCTID:400952003 {source="MONDO:equivalentTo"}
xref: UMLS:C1862866 {source="MONDO:equivalentTo", source="MEDGEN:400148", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0007124
name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
def: "An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." [https://orcid.org/0000-0001-5208-3432, Orphanet:1071]
subset: gard_rare {source="GARD:6571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:738"}
subset: ordo_disorder {source="Orphanet:1071"}
subset: ordo_malformation_syndrome {source="Orphanet:1071"}
subset: orphanet_rare {source="Orphanet:1071"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AEC Syndrome" EXACT [NORD:738]
synonym: "AEC syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071]
synonym: "Ankyloblepharon ectodermal defects cleft lip/palate" RELATED [GARD:0006571]
synonym: "Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome" EXACT [DOID:0090119]
synonym: "ankyloblepharon-ectodermal defects-cleft LIP/palate" RELATED [OMIM:106260]
synonym: "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" RELATED [GARD:0004805]
synonym: "Hay-Wells syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071]
synonym: "Rapp-Hodgkins syndrome" RELATED [https://orcid.org/0000-0002-6601-2165, https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome]
synonym: "Seres-Santamaria Arimany Muniz syndrome" RELATED [GARD:0004805]
xref: DOID:0090119 {source="MONDO:equivalentTo"}
xref: GARD:6571 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1071", source="Orphanet:1071/attributed", source="Orphanet:1071/ntbt", source="DOID:0090119"}
xref: MEDGEN:98032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535289 {source="Orphanet:1071/e", source="Orphanet:1071", source="DOID:0090119"}
xref: MESH:C535847 {source="MONDO:equivalentTo"}
xref: NORD:738 {source="MONDO:NORD"}
xref: OMIM:106260 {source="Orphanet:1071/e", source="MONDO:equivalentTo", source="Orphanet:1071", source="GARD:0004805", source="DOID:0090119"}
xref: Orphanet:1071 {source="MONDO:equivalentTo", source="DOID:0090119", source="OMIM:106260"}
xref: SCTID:55821006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98032"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019287 {source="MESH:C535847", source="Orphanet:1071"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1071", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6332" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0007125
name: ankyloglossia
def: "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth." [NCIT:C124538]
synonym: "'tongue-Tie'" RELATED [OMIM:106280]
synonym: "ankyloglossia" EXACT [OMIM:106280]
synonym: "FUSED to floor of mouth" EXACT [NCIT:C124538]
synonym: "tongue-tie" EXACT [DOID:0060604]
xref: DOID:0060604 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q38.1 {source="MONDO:equivalentTo", source="DOID:0060604"}
xref: ICD9:750.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562396 {source="MONDO:equivalentTo", source="DOID:0060604"}
xref: MESH:D000072676 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C124538 {source="MONDO:equivalentTo"}
xref: OMIM:106280 {source="MONDO:equivalentTo", source="DOID:0060604"}
xref: SCTID:67787004 {source="MONDO:equivalentTo"}
xref: UMLS:C0152415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56288"}
is_a: MONDO:0001165 {source="DOID:0060604"} ! tongue disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007126
name: spondyloarthropathy, susceptibility to, 1
def: "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ankylosing spondylitis, susceptibility to" RELATED [OMIM:106300]
synonym: "Bechterew syndrome" RELATED [OMIM:106300]
synonym: "HLA-B spondyloarthropathy, susceptibility to" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Marie-Strumpell spondylitis" RELATED [OMIM:106300]
synonym: "SPDA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106300]
synonym: "spondyloarthropathy, susceptibility to caused by mutation in HLA-B" EXACT [MONDO:design_pattern]
synonym: "spondyloarthropathy, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:106300]
synonym: "spondyloarthropathy, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:106300]
synonym: "susceptibility to spondyloarthropathy 1" RELATED [OMIM:106300]
xref: DOID:0080603 {source="MONDO:equivalentTo"}
xref: MEDGEN:400145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:106300 {source="MONDO:equivalentTo"}
xref: Orphanet:825 {source="OMIM:106300"}
xref: UMLS:C1862852 {source="MEDGEN:400145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:106300"} ! inherited disease susceptibility
is_a: MONDO:0024512 {source="MONDO:Redundant", source="OMIM:106300"} ! spondyloarthropathy, susceptibility to
intersection_of: MONDO:0024512 ! spondyloarthropathy, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4932 ! HLA-B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4932 {source="MONDO:mim2gene_medgen"} ! HLA-B
relationship: predisposes_towards MONDO:0005095 ! spondyloarthropathy

[Term]
id: MONDO:0007127
name: diffuse idiopathic skeletal hyperostosis
def: "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms." [Orphanet:2206]
subset: gard_rare {source="GARD:842", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1053", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2206"}
subset: ordo_malformation_syndrome {source="Orphanet:2206"}
subset: orphanet_rare {source="Orphanet:2206"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ankylosing vertebral hyperostosis" EXACT [DOID:6652, ICD9CM:721.6]
synonym: "ankylosing vertebral hyperostosis with tylosis" RELATED [OMIM:106400]
synonym: "diffuse idiopathic skeletal hyperostosis" EXACT [OMIM:106400]
synonym: "dish" EXACT [DOID:6652]
synonym: "disseminated idiopathic skeletal hyperostosis" EXACT [DOID:6652]
synonym: "Forestier disease" RELATED [DOID:6652]
synonym: "Forestier's disease" EXACT [NCIT:C84671]
xref: DOID:6652 {source="EFO:0007236", source="MONDO:equivalentTo"}
xref: EFO:0007236 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:842 {source="MONDO:GARD"}
xref: ICD10CM:M48.1 {source="DOID:6652", source="Orphanet:2206", source="Orphanet:2206/attributed", source="Orphanet:2206/ntbt"}
xref: ICD9:721.6 {source="DOID:6652", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004057 {source="EFO:0007236", source="DOID:6652", source="MONDO:equivalentTo"}
xref: NCIT:C84671 {source="DOID:6652", source="MONDO:equivalentTo"}
xref: NORD:1053 {source="MONDO:NORD"}
xref: OMIM:106400 {source="DOID:6652", source="MONDO:includedEntryInOMIM", source="Orphanet:2206", source="Orphanet:2206/e"}
xref: Orphanet:2206 {source="OMIM:106400", source="MONDO:equivalentTo"}
xref: SCTID:31487001 {source="DOID:6652", source="MONDO:equivalentTo"}
xref: SCTID:55815007 {source="DOID:6652"}
xref: UMLS:C0020498 {source="MEDGEN:5695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002185 {source="MESH:D004057", source="NCIT:C84671"} ! hyperostosis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0002123 {source="DOID:6652", source="https://orcid.org/0000-0001-5208-3432"} ! calcinosis
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007128
name: annular erythema
synonym: "annular erythema" EXACT [OMIM:106500]
xref: MEDGEN:68608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562461 {source="MONDO:equivalentTo"}
xref: OMIM:106500 {source="MONDO:equivalentTo"}
xref: SCTID:200920000 {source="MONDO:equivalentTo"}
xref: UMLS:C0234906 {source="MEDGEN:68608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562461/inferred"} ! hereditary disease

[Term]
id: MONDO:0007129
name: tooth agenesis, selective, 1
def: "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals." [https://clinicalgenome.org/affiliation/40059/, MONDO:patterns/disease_series_by_gene, PMID:27699475, PMID:35877402]
subset: gard_rare {source="GARD:18244", source="MONDO:GARD"}
subset: rare
synonym: "hypodontia/oligodontia 1" RELATED [OMIM:106600]
synonym: "MSX1 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MSX1-related tooth agenesis with or without orofacial cleft" EXACT [https://clinicalgenome.org/affiliation/40059/]
synonym: "second premolars and third molars, absence of" RELATED [OMIM:106600]
synonym: "STHAG1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106600]
synonym: "tooth agenesis caused by mutation in MSX1" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, familial" RELATED [OMIM:106600]
synonym: "tooth agenesis, selective, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:106600]
synonym: "tooth agenesis, selective, 1, with or without orofacial cleft" EXACT [OMIM:106600, OMIM:genemap2]
synonym: "tooth agenesis, selective, type 1" EXACT [MONDORULE:1, OMIM:106600]
xref: GARD:18244 {source="MONDO:GARD"}
xref: MEDGEN:483482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:106600 {source="MONDO:equivalentTo"}
xref: Orphanet:2227 {source="OMIM:106600"}
xref: Orphanet:99798 {source="OMIM:106600"}
xref: UMLS:C3489529 {source="MEDGEN:483482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:106600", source="MONDO:Redundant", source="OMIM:106600"} ! tooth agenesis
intersection_of: MONDO:0005486 ! tooth agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 ! MSX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 {source="MONDO:mim2gene_medgen"} ! MSX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7034" xsd:anyURI

[Term]
id: MONDO:0007130
name: congenital total pulmonary venous return anomaly
def: "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure." [Orphanet:99125]
subset: gard_rare {source="GARD:16896", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99125"}
subset: ordo_morphological_anomaly {source="Orphanet:99125"}
subset: orphanet_rare {source="Orphanet:99125"}
subset: rare
synonym: "anomalous pulmonary Venous return" RELATED [OMIM:106700]
synonym: "pulmonary venolobar syndrome" EXACT [DOID:4297]
synonym: "scimitar anomaly" RELATED [OMIM:106700]
synonym: "scimitar syndrome" RELATED [DOID:4297]
synonym: "TAPVR" EXACT ABBREVIATION [NCIT:C98585]
synonym: "TAPVR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106700]
synonym: "total anomalous pulmonary venous return" EXACT [DOID:4297]
synonym: "total anomalous pulmonary VENOUS return 1" RELATED [MONDO:Lexical, OMIM:106700]
xref: DOID:4297 {source="EFO:1001167", source="MONDO:equivalentTo"}
xref: GARD:16896 {source="MONDO:GARD"}
xref: ICD10CM:Q26.2 {source="Orphanet:99125", source="Orphanet:99125/e", source="DOID:4297"}
xref: ICD10CM:Q26.8 {source="DOID:4297"}
xref: icd11.foundation:1532925990 {source="Orphanet:99125", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:747.41 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:4297"}
xref: MEDGEN:1648157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012587 {source="EFO:1001167", source="MONDO:directSiblingOf", source="DOID:4297"}
xref: NANDO:2200271 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85056 {source="EFO:1001167", source="MONDO:directSiblingOf", source="DOID:4297"}
xref: NCIT:C98585 {source="MONDO:equivalentTo", source="DOID:4297"}
xref: OMIM:106700 {source="Orphanet:99125", source="MONDO:equivalentTo", source="Orphanet:99125/e", source="DOID:4297"}
xref: Orphanet:99125 {source="MONDO:equivalentTo", source="OMIM:106700"}
xref: SCTID:111323005 {source="MONDO:equivalentTo", source="DOID:4297"}
xref: SCTID:204458000 {source="DOID:4297"}
xref: SCTID:39905002 {source="EFO:1001167", source="MONDO:directSiblingOf", source="DOID:4297"}
xref: UMLS:C4551903 {source="MEDGEN:1648157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005453 {source="DOID:4297", source="MONDO:Redundant", source="NCIT:C98585/inferred"} ! congenital heart disease
is_a: MONDO:0017705 {source="Orphanet:99125"} ! congenital pulmonary venous return anomaly
is_a: MONDO:0020295 {source="MONDO:Redundant", source="NCIT:C98585", source="Orphanet:99125/inferred"} ! congenital pulmonary veins anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007131
name: anonychia with flexural pigmentation
def: "Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant." [Orphanet:69125]
subset: gard_rare {source="GARD:16682", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:69125"}
subset: ordo_malformation_syndrome {source="Orphanet:69125"}
subset: orphanet_rare {source="Orphanet:69125"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anonychia with flexural pigmentation" EXACT [OMIM:106750]
xref: GARD:16682 {source="MONDO:GARD"}
xref: MEDGEN:400144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566278 {source="MONDO:equivalentTo"}
xref: OMIM:106750 {source="Orphanet:69125/e", source="MONDO:equivalentTo", source="Orphanet:69125"}
xref: Orphanet:69125 {source="OMIM:106750", source="MONDO:equivalentTo"}
xref: UMLS:C1862844 {source="MEDGEN:400144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:69125"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0007132
name: anonychia-ectrodactyly
synonym: "anonychia ectrodactyly" RELATED [GARD:0000708]
synonym: "anonychia-ectrodactyly" EXACT [OMIM:106900]
xref: MEDGEN:354849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566277 {source="MONDO:equivalentTo"}
xref: OMIM:106900 {source="MONDO:equivalentTo"}
xref: UMLS:C1862843 {source="MEDGEN:354849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/708/anonychia-ectrodactyly" xsd:anyURI {source="GARD:0000708"}

[Term]
id: MONDO:0007133
name: anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
subset: gard_rare {source="GARD:711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly" EXACT [OMIM:106990]
synonym: "autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly" RELATED [GARD:0000711]
synonym: "Kumar-Levick syndrome" EXACT [Orphanet:2355]
xref: GARD:711 {source="MONDO:GARD"}
xref: MEDGEN:400143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536379 {source="MONDO:equivalentTo"}
xref: OMIM:106990 {source="MONDO:equivalentTo"}
xref: Orphanet:2355 {source="OMIM:106990", source="MONDO:equivalentObsolete"}
xref: UMLS:C1862842 {source="MEDGEN:400143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly" xsd:anyURI {source="GARD:0000711"}

[Term]
id: MONDO:0007134
name: Cooks syndrome
def: "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." [Orphanet:1487]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4083", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1487"}
subset: ordo_malformation_syndrome {source="Orphanet:1487"}
subset: orphanet_rare {source="Orphanet:1487"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anonychia and absence/hypoplasia of distal phalanges" RELATED [GARD:0004083]
synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges" RELATED [OMIM:106995]
synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome" EXACT [Orphanet:1487]
synonym: "Cooks syndrome" EXACT CLINGEN_LABEL [OMIM:106995]
synonym: "ODP" EXACT ABBREVIATION [Orphanet:1487]
xref: GARD:4083 {source="MONDO:GARD"}
xref: ICD10CM:Q84.6 {source="Orphanet:1487/attributed", source="Orphanet:1487/ntbt", source="Orphanet:1487"}
xref: MEDGEN:354848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537766 {source="MONDO:equivalentTo"}
xref: OMIM:106995 {source="Orphanet:1487", source="MONDO:equivalentTo", source="Orphanet:1487/e"}
xref: Orphanet:1487 {source="OMIM:106995", source="MONDO:equivalentTo"}
xref: SCTID:720747002 {source="MONDO:equivalentTo"}
xref: UMLS:C1862841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354848"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:22329539", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019054 {source="Orphanet:1487", source="https://orcid.org/0000-0001-5208-3432"} ! congenital limb malformation
is_a: MONDO:0021004 {source="PMID:22329539", source="https://orcid.org/0009-0001-6494-4831"} ! brachydactyly
relationship: excluded_subClassOf MONDO:0019285 {source="Orphanet:1487", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic nail anomaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007135
name: nonsyndromic congenital nail disorder 6
subset: gard_rare {source="GARD:15040", source="MONDO:GARD"}
subset: rare
synonym: "absent nails and dystrophic nails" RELATED [GARD:0000710]
synonym: "anonychia, partial" RELATED [OMIM:107000]
synonym: "anonychia/hyponychia and onychodystrophy" RELATED [OMIM:107000]
synonym: "nail disorder, nonsyndromic congenital, 6" RELATED [MONDO:Lexical, OMIM:107000]
synonym: "NDNC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107000]
synonym: "nonsyndromic congenital nail disorder type 6" EXACT [DOID:0080084, MONDORULE:1]
synonym: "onychodystrophy-anonychia" RELATED [GARD:0000710]
xref: DOID:0080084 {source="MONDO:equivalentTo"}
xref: GARD:15040 {source="MONDO:GARD"}
xref: MEDGEN:477175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:107000 {source="MONDO:equivalentTo", source="DOID:0080084"}
xref: Orphanet:79143 {source="OMIM:107000"}
xref: Orphanet:90390 {source="MONDO:directSiblingOf", source="OMIM:107000"}
xref: UMLS:C3275544 {source="MEDGEN:477175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019211 {source="Orphanet:79143/btnt"} ! isolated congenital anonychia
is_a: MONDO:0019284 {source="DC-OMIM:107000", source="OMIM:107000"} ! inherited isolated nail anomaly
relationship: excluded_subClassOf MONDO:0019577 {source="Orphanet:90390/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! anonychia-onychodystrophy syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007136
name: hereditary anorectal anomalies
subset: gard_rare {source="MONDO:GARD"}
subset: prototype_pattern
subset: rare
synonym: "anorectal anomalies" RELATED [OMIM:107100]
synonym: "genetic anorectal anomalies" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: MEDGEN:501217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567938 {source="MONDO:equivalentObsolete"}
xref: OMIM:107100 {source="MONDO:equivalentTo"}
xref: Orphanet:557 {source="OMIM:107100"}
xref: UMLS:C3495676 {source="MEDGEN:501217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019938 {source="MONDO:Redundant", source="Orphanet:557"} ! anorectal malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5952" xsd:anyURI

[Term]
id: MONDO:0007137
name: isolated congenital anosmia
def: "This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome." [Orphanet:88620]
subset: gard_rare {source="GARD:9486", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88620"}
subset: orphanet_rare {source="Orphanet:88620"}
subset: rare
synonym: "ANIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107200]
synonym: "anosmia, congenital" RELATED [OMIM:107200]
synonym: "anosmia, isolated congenital" RELATED [MONDO:Lexical, OMIM:107200]
synonym: "congenital anosmia" RELATED [GARD:0009486]
xref: GARD:9486 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:88620", source="Orphanet:88620/attributed", source="Orphanet:88620/ntbt"}
xref: MEDGEN:95992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535983 {source="MONDO:equivalentTo"}
xref: OMIM:107200 {source="Orphanet:88620", source="MONDO:equivalentTo", source="Orphanet:88620/e"}
xref: Orphanet:88620 {source="OMIM:107200", source="MONDO:equivalentTo"}
xref: SCTID:230502003 {source="MONDO:equivalentTo"}
xref: UMLS:C0393778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:95992"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0010528 {source="https://orcid.org/0000-0001-5493-2602"} ! anosmia
is_a: MONDO:0018751 {source="MONDO:Redundant", source="Orphanet:88620"} ! hereditary otorhinolaryngologic disease
is_a: MONDO:0024623 {source="Orphanet:88620"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3834" xsd:anyURI

[Term]
id: MONDO:0007138
name: anterior segment dysgenesis 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anterior segment dysgenesis 1" EXACT [OMIM:107250]
synonym: "anterior segment dysgenesis 1, multiple subtypes" EXACT [OMIM:107250, OMIM:genemap2]
synonym: "anterior segment mesenchymal dysgenesis" RELATED [MONDO:Lexical, OMIM:107250]
synonym: "anterior segment ocular dysgenesis" RELATED [OMIM:107250]
synonym: "ASGD1" RELATED ABBREVIATION [OMIM:107250]
synonym: "ASMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107250]
xref: DOID:0060605 {source="MONDO:equivalentObsolete"}
xref: DOID:0080606 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q13.8 {source="DOID:0060605"}
xref: MEDGEN:1631197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:107250 {source="MONDO:equivalentTo", source="DOID:0060605"}
xref: Orphanet:88632 {source="DOID:0060605", source="OMIM:107250"}
xref: UMLS:C4551992 {source="MEDGEN:1631197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019503 {source="DC-OMIM:107250", source="OMIM:107250"} ! anterior segment dysgenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007139
name: obsolete Antipyrine metabolism
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "antipyrine metabolism" EXACT [OMIM:107290]
xref: OMIM:107290 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007140
name: obsolete antiphospholipid syndrome
xref: NANDO:1200271 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200421 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3634" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:8000010

[Term]
id: MONDO:0007141
name: obsolete antiviral state repressor, regulator of
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "antiviral STATE repressor, regulator OF" RELATED [OMIM:107440]
synonym: "antiviral state repressor, regulator of" EXACT [MONDO:Lexical, OMIM:107440]
synonym: "AVRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107440]
xref: OMIM:107440 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007142
name: Townes-Brocks syndrome
def: "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." [Orphanet:857]
subset: gard_rare {source="GARD:7784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1780"}
subset: ordo_disorder {source="Orphanet:857"}
subset: ordo_malformation_syndrome {source="Orphanet:857"}
subset: orphanet_rare {source="Orphanet:857"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "anus, imperforate, with hand, foot and ear anomalies" RELATED [GARD:0007784]
synonym: "anus, imperforate, with hand, foot, and Ear anomalies" RELATED [OMIM:107480]
synonym: "deafness, sensorineural, with imperforate anus and hypoplastic thumbs" RELATED [GARD:0007784]
synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [OMIM:107480]
synonym: "imperforate anus with hand, foot and ear anomalies" EXACT [Orphanet:857]
synonym: "rear syndrome" EXACT [Orphanet:857]
synonym: "renal-Ear-anal-radial syndrome" RELATED [OMIM:107480]
synonym: "renal-ear-anal-radial syndrome" EXACT [Orphanet:857]
synonym: "sensorineural deafness with imperforate anus and hypoplastic thumbs" EXACT [Orphanet:857]
synonym: "TBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:107480, Orphanet:857]
synonym: "TBS1" RELATED ABBREVIATION [OMIM:107480]
synonym: "Townes syndrome" EXACT [Orphanet:857]
synonym: "Townes-Brocks syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:107480]
synonym: "Townes-Brocks syndrome 1" RELATED [OMIM:107480]
synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480]
xref: DOID:0050887 {source="MONDO:equivalentTo"}
xref: GARD:7784 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:857", source="Orphanet:857/attributed", source="Orphanet:857/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536974 {source="MONDO:equivalentTo", source="Orphanet:857", source="Orphanet:857/e"}
xref: NCIT:C99085 {source="MONDO:equivalentTo"}
xref: NORD:1780 {source="MONDO:NORD"}
xref: OMIMPS:107480 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:857 {source="MONDO:equivalentTo", source="OMIM:107480"}
xref: SCTID:24750000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265246 {source="MEDGEN:75555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0050887", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99085", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:857"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:107480", source="Orphanet:857"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:107480"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome" xsd:anyURI {source="GARD:0007784"}

[Term]
id: MONDO:0007143
name: aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
def: "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." [Orphanet:1110]
subset: gard_rare {source="GARD:739", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1110"}
subset: ordo_malformation_syndrome {source="Orphanet:1110"}
subset: orphanet_rare {source="Orphanet:1110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aortic arch anomaly - peculiar facies - intellectual disability" RELATED [GARD:0000739]
synonym: "aortic arch anomaly with peculiar facies and intellectual disability" RELATED [OMIM:107500]
synonym: "aortic arch anomaly with peculiar facies and mental retardation" RELATED DEPRECATED [OMIM:107500]
synonym: "aortic arch anomaly-peculiar facies-intellectual disability syndrome" RELATED [GARD:0000739]
synonym: "familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism" RELATED [GARD:0000739]
xref: GARD:739 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1110", source="Orphanet:1110/attributed", source="Orphanet:1110/ntbt"}
xref: MEDGEN:350734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537785 {source="Orphanet:1110", source="MONDO:equivalentTo", source="Orphanet:1110/e"}
xref: OMIM:107500 {source="Orphanet:1110", source="MONDO:equivalentTo", source="Orphanet:1110/e"}
xref: Orphanet:1110 {source="OMIM:107500", source="MONDO:equivalentTo"}
xref: UMLS:C1862682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350734"}
is_a: MONDO:0015159 {source="Orphanet:1110"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1110", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0007144
name: aortic arch interruption, facial palsy, and retinal coloboma
synonym: "aortic arch interruption, facial palsy, and retinal coloboma" EXACT [OMIM:107550]
xref: MEDGEN:350733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566271 {source="MONDO:equivalentTo"}
xref: OMIM:107550 {source="MONDO:equivalentTo"}
xref: UMLS:C1862681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350733"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007145
name: aplasia cutis congenita
def: "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." [Orphanet:1114]
subset: gard_rare {source="GARD:5835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:794"}
subset: ordo_disorder {source="Orphanet:1114"}
subset: ordo_malformation_syndrome {source="Orphanet:1114"}
subset: orphanet_rare {source="Orphanet:1114"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107600]
synonym: "aplasia cutis congenita" EXACT [MONDO:ambiguous]
synonym: "aplasia cutis congenita (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "aplasia cutis congenita nonsyndromic" RELATED [GARD:0005835]
synonym: "aplasia cutis congenita recessive" EXACT [GARD:0000755]
synonym: "aplasia cutis congenita, nonsyndromic" RELATED [MONDO:Lexical, OMIM:107600]
synonym: "congenital defect of skull and scalp" RELATED [OMIM:107600]
synonym: "scalp defect congenital" RELATED [GARD:0005835]
synonym: "scalp defect, congenital" RELATED [OMIM:107600]
xref: DOID:0080661 {source="MONDO:equivalentTo"}
xref: GARD:5835 {source="MONDO:GARD"}
xref: HP:0001057 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q84.8 {source="Orphanet:1114/attributed", source="Orphanet:1114/ntbt", source="Orphanet:1114"}
xref: icd11.foundation:350175828 {source="Orphanet:1114", source="MONDO:equivalentTo"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:79390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98822 {source="MONDO:equivalentTo"}
xref: NORD:794 {source="MONDO:NORD"}
xref: OMIM:107600 {source="Orphanet:1114", source="MONDO:equivalentTo", source="Orphanet:1114/e"}
xref: Orphanet:1114 {source="OMIM:107600", source="MONDO:equivalentTo"}
xref: SCTID:35484002 {source="MONDO:equivalentTo"}
xref: UMLS:C0282160 {source="MEDGEN:79390", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019294 {source="Orphanet:1114"} ! mixed dermis disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23505 {source="MONDO:mim2gene_medgen"} ! BMS1
property_value: IAO:0000589 "aplasia cutis congenita (disease)" xsd:string

[Term]
id: MONDO:0007146
name: obsolete apnea, central sleep
is_obsolete: true
replaced_by: MONDO:0008807

[Term]
id: MONDO:0007147
name: obstructive sleep apnea syndrome
def: "Cessation of air flow during sleep due to upper airway obstruction." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "apnea, obstructive sleep" RELATED [MESH:D020181, OMIM:107650]
synonym: "Apneas, obstructive sleep" RELATED [MESH:D020181]
synonym: "obstructive sleep apnea" EXACT [MESH:D020181, MONDO:ambiguous]
synonym: "obstructive sleep apnea syndrome" EXACT [DOID:0050848, MESH:D020181, OMIM:107650]
synonym: "obstructive sleep Apneas" RELATED [MESH:D020181]
synonym: "Osa" RELATED [OMIM:107650]
synonym: "OSAHS" RELATED ABBREVIATION [MESH:D020181]
synonym: "sleep apnea hypopnea syndrome" RELATED [MESH:D020181]
synonym: "sleep apnea syndrome, obstructive" RELATED [MESH:D020181]
synonym: "sleep apnea/hypopnea syndrome" RELATED [OMIM:107650]
synonym: "sleep Apneas, obstructive" RELATED [MESH:D020181]
synonym: "syndrome, obstructive sleep apnea" RELATED [MESH:D020181]
synonym: "syndrome, sleep apnea, obstructive" RELATED [MESH:D020181]
synonym: "syndrome, upper airway resistance, sleep apnea" RELATED [MESH:D020181]
synonym: "upper airway resistance sleep apnea syndrome" RELATED [MESH:D020181]
xref: DOID:0050848 {source="EFO:0003918", source="MONDO:equivalentTo"}
xref: EFO:0003918 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002870 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G47.3 {source="DOID:0050848"}
xref: ICD10CM:G47.30 {source="DOID:0050848"}
xref: ICD10CM:G47.33 {source="MONDO:equivalentTo"}
xref: ICD9:327.23 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:780.57 {source="DOID:0050848"}
xref: MEDGEN:101045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012891 {source="DOID:0050848"}
xref: MESH:D020181 {source="EFO:0003918", source="MONDO:equivalentTo"}
xref: NCIT:C116337 {source="EFO:0003918", source="MONDO:otherHierarchy"}
xref: NCIT:C26884 {source="MONDO:otherHierarchy", source="DOID:0050848"}
xref: NCIT:C27168 {source="MONDO:equivalentTo"}
xref: OMIM:107650 {source="EFO:0003918", source="MONDO:equivalentTo", source="DOID:0050848"}
xref: SCTID:155614007 {source="DOID:0050848"}
xref: SCTID:194441007 {source="DOID:0050848"}
xref: SCTID:196166002 {source="DOID:0050848"}
xref: SCTID:206750008 {source="DOID:0050848"}
xref: SCTID:230493001 {source="DOID:0050848"}
xref: SCTID:313246000 {source="DOID:0050848"}
xref: SCTID:73430006 {source="DOID:0050848"}
xref: SCTID:78275009 {source="EFO:0003918", source="MONDO:equivalentTo"}
xref: UMLS:C0520679 {source="MEDGEN:101045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C27168"} ! syndromic disease
is_a: MONDO:0003406 {source="DOID:0050848/inferred", source="EFO:0003918/inferred", source="ICD10CM:G47.33", source="ICD10CM:G47.33/inferred", source="MESH:D020181/inferred", source="MONDO:Redundant"} ! sleep-wake disorder
is_a: MONDO:0005296 {source="DOID:0050848", source="EFO:0003918", source="ICD10CM:G47.33", source="MESH:D020181"} ! sleep apnea syndrome

[Term]
id: MONDO:0007148
name: appendicitis, proneness to
synonym: "appendicitis, proneness to" EXACT [OMIM:107700]
synonym: "appendicitis, susceptibility" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: MEDGEN:400099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:107700 {source="MONDO:equivalentTo"}
xref: UMLS:C1862632 {source="MEDGEN:400099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited disease susceptibility

[Term]
id: MONDO:0007149
name: obsolete arbitrary restriction polymorphism 1
comment: This is a gene/protein record, not a disease.
synonym: "anonymous restriction polymorphism 1" RELATED [OMIM:107750]
synonym: "arbitrary restriction polymorphism 1" EXACT [OMIM:107750]
synonym: "arbitrary restriction polymorphism type 1" EXACT [MONDORULE:1, OMIM:107750]
synonym: "Arp-14A" RELATED [OMIM:107750]
synonym: "restriction fragment length polymorphism 14A" RELATED [OMIM:107750]
synonym: "Rflp-14A" RELATED [OMIM:107750]
xref: OMIM:107750 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007150
name: arcus senilis
def: "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." [MESH:D001112]
subset: otar {source="MONDO:OTAR"}
synonym: "arcus corneae" RELATED [OMIM:107800]
synonym: "arcus of cornea" EXACT [DOID:11342]
synonym: "arcus senilis" EXACT [OMIM:107800]
synonym: "corneal arcus" EXACT [DOID:11342, OMIM:107800]
xref: DOID:11342 {source="EFO:1000818", source="MONDO:equivalentTo"}
xref: EFO:1000818 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H18.41 {source="DOID:11342"}
xref: MedDRA:10003082 {source="EFO:1000818"}
xref: MEDGEN:8179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001112 {source="EFO:1000818", source="MONDO:equivalentTo", source="DOID:11342"}
xref: OMIM:107800 {source="MONDO:equivalentTo", source="DOID:11342"}
xref: SCTID:111522004 {source="EFO:1000818", source="DOID:11342"}
xref: SCTID:155159000 {source="DOID:11342"}
xref: SCTID:231924000 {source="MONDO:equivalentTo", source="DOID:11342"}
xref: UMLS:C0003742 {source="MEDGEN:8179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001515 {source="DOID:11342"} ! corneal degeneration
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007151
name: arms, malformation of
synonym: "arms, malformation of" EXACT [OMIM:107900]
xref: MEDGEN:350694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566258 {source="MONDO:equivalentTo"}
xref: OMIM:107900 {source="MONDO:equivalentTo"}
xref: UMLS:C1862534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350694"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007152
name: arrhythmogenic right ventricular dysplasia 1
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 1" EXACT [DOID:0110070, OMIM:107970]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia type 1" EXACT [DOID:0110070, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 1" RELATED [MONDO:Lexical, OMIM:107970]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 1" EXACT [MONDORULE:1, OMIM:107970]
synonym: "ARVC1" EXACT ABBREVIATION [DOID:0110070]
synonym: "ARVD1" EXACT ABBREVIATION [DOID:0110070, MONDO:Lexical, OMIM:107970]
synonym: "cardiomyopathy, right ventricular dilated" RELATED [OMIM:107970]
synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT [DOID:0110070]
synonym: "TGFB3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Uhl anomaly" RELATED [OMIM:107970]
xref: DOID:0110070 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110070"}
xref: ICD10CM:Q24.8 {source="DOID:0110070"}
xref: MEDGEN:349530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:107970 {source="DOID:0110070", source="MONDO:equivalentTo"}
xref: Orphanet:217656 {source="OMIM:107970"}
xref: Orphanet:3403 {source="OMIM:107970", source="MONDO:relatedTo"}
xref: UMLS:C1862511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349530"}
is_a: MONDO:0016342 {source="DOID:0110070", source="MONDO:Redundant", source="OMIM:107970"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11769 ! TGFB3
relationship: excluded_subClassOf MONDO:0017401 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, left dominant form
relationship: excluded_subClassOf MONDO:0017402 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, biventricular form
relationship: excluded_subClassOf MONDO:0017403 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, right dominant form
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11769 {source="MONDO:mim2gene_medgen"} ! TGFB3

[Term]
id: MONDO:0007153
name: arteries, anomalies of
synonym: "arteries, anomalies of" EXACT [OMIM:108000]
xref: MEDGEN:360295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108000 {source="MONDO:equivalentTo"}
xref: UMLS:C1876179 {source="MONDO:equivalentTo", source="MEDGEN:360295", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007154
name: arteriovenous malformations of the brain
def: "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." [Orphanet:46724]
subset: gard_rare {source="GARD:3020", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:46724"}
subset: ordo_morphological_anomaly {source="Orphanet:46724"}
subset: orphanet_rare {source="Orphanet:46724"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arteriovenous malformation of the brain, somatic" EXACT [OMIM:108010, OMIM:genemap2]
synonym: "arteriovenous malformations of the brain" EXACT [OMIM:108010]
synonym: "Bavm" RELATED [OMIM:108010]
synonym: "cerebral arteriovenous malformation" EXACT [DOID:0060688]
synonym: "cerebral arteriovenous malformations" RELATED [OMIM:108010]
synonym: "intracranial arteriovenous malformation" EXACT [DOID:0060688, Orphanet:46724]
synonym: "intracranial AVM" RELATED [GARD:0003020]
synonym: "intracranial haemorrhage in brain arteriovenous malformations, susceptibility to" RELATED OMO:0003005 []
synonym: "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT OMO:0003005 []
synonym: "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to" RELATED [OMIM:108010]
synonym: "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT [OMIM:108010, OMIM:genemap2]
xref: DOID:0060688 {source="MONDO:equivalentTo"}
xref: GARD:3020 {source="MONDO:GARD"}
xref: ICD10CM:Q28.2 {source="Orphanet:46724", source="Orphanet:46724/attributed", source="Orphanet:46724/ntbt", source="DOID:0060688"}
xref: icd11.foundation:153256729 {source="Orphanet:46724", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:214590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002538 {source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"}
xref: NANDO:2100229 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200851 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2936 {source="MONDO:equivalentTo"}
xref: OMIM:108010 {source="Orphanet:46724", source="DOID:0060688", source="MONDO:equivalentTo", source="Orphanet:46724/e"}
xref: Orphanet:46724 {source="DOID:0060688", source="MONDO:equivalentTo", source="OMIM:108010"}
xref: SCTID:234142008 {source="MONDO:equivalentTo"}
xref: UMLS:C0917804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:214590"}
is_a: MONDO:0001256 {source="DOID:0060688", source="MESH:D002538", source="MONDO:Redundant", source="NCIT:C2936", source="Orphanet:46724"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6018 {source="MONDO:mim2gene_medgen"} ! IL6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007155
name: arteritis, familial granulomatous, with juvenile polyarthritis
synonym: "arteritis, familial granulomatous, with juvenile polyarthritis" EXACT [OMIM:108050]
xref: MEDGEN:349529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566253 {source="MONDO:equivalentTo"}
xref: OMIM:108050 {source="MONDO:equivalentTo"}
xref: UMLS:C1862510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349529"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007156
name: arthritis, sacroiliac
synonym: "arthritis, sacroiliac" EXACT [OMIM:108100]
xref: MEDGEN:148186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563037 {source="MONDO:equivalentTo"}
xref: OMIM:108100 {source="MONDO:equivalentTo"}
xref: UMLS:C0748473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148186"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007157
name: arthrogryposis, distal, type 1A
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AMC" EXACT ABBREVIATION [OMIM:108120]
synonym: "arthrogryposis multiplex congenita" BROAD [OMIM:108120]
synonym: "arthrogryposis multiplex congenita, distal, type 1" RELATED [OMIM:108120]
synonym: "arthrogryposis, distal, type 1" RELATED [OMIM:108120]
synonym: "arthrogryposis, distal, type 1A" EXACT [MONDO:Lexical, OMIM:108120]
synonym: "arthrogryposis, distal, type 2B4" RELATED [OMIM:108120, OMIM:genemap2]
synonym: "DA1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108120, Orphanet:1146]
xref: DOID:0111597 {source="MONDO:equivalentTo"}
xref: MEDGEN:113099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108120 {source="MONDO:equivalentTo"}
xref: Orphanet:1146 {source="OMIM:108120"}
xref: SCTID:715314008 {source="MONDO:equivalentTo"}
xref: UMLS:C0220662 {source="MEDGEN:113099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015240 ! digitotalar dysmorphism
is_a: MONDO:0019942 ! distal arthrogryposis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12011 {source="MONDO:mim2gene_medgen"} ! TPM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007158
name: arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
def: "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." [Orphanet:1154]
subset: gard_rare {source="GARD:4047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1154"}
subset: ordo_malformation_syndrome {source="Orphanet:1154"}
subset: orphanet_rare {source="Orphanet:1154"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arthogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047]
synonym: "arthrogryposis ophthalmoplegia retinopathy" RELATED [GARD:0004047]
synonym: "arthrogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047, OMIM:108145]
synonym: "arthrogryposis, distal, type 2B" RELATED [OMIM:108145]
synonym: "arthrogryposis, distal, type 5" RELATED [MONDO:Lexical, OMIM:108145]
synonym: "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" EXACT [GARD:0004047]
synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" RELATED [Orphanet:1154]
synonym: "DA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108145]
synonym: "distal arthrogryposis type 5" EXACT [Orphanet:1154]
synonym: "distal arthrogryposis type IIB" EXACT [Orphanet:1154]
synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [GARD:0004047, Orphanet:1154]
synonym: "oculomelic amyoplasia" EXACT [GARD:0004047, OMIM:108145, Orphanet:1154]
xref: DOID:0111608 {source="MONDO:equivalentTo"}
xref: GARD:4047 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:1154", source="Orphanet:1154/attributed", source="Orphanet:1154/ntbt"}
xref: MEDGEN:350678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108145 {source="Orphanet:1154", source="GARD:0004047", source="MONDO:equivalentTo", source="Orphanet:1154/e"}
xref: Orphanet:1154 {source="GARD:0004047", source="OMIM:108145", source="MONDO:equivalentTo"}
xref: SCTID:715217004 {source="MONDO:equivalentTo"}
xref: UMLS:C1862472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350678"}
is_a: MONDO:0019942 {source="DC-OMIM:108145", source="Orphanet:1154"} ! distal arthrogryposis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5" xsd:anyURI {source="GARD:0004047"}

[Term]
id: MONDO:0007159
name: arthrogryposis-like hand anomaly-sensorineural deafness syndrome
def: "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." [Orphanet:1144]
subset: gard_rare {source="GARD:784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1144"}
subset: ordo_malformation_syndrome {source="Orphanet:1144"}
subset: orphanet_rare {source="Orphanet:1144"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis and sensorineural deafness" RELATED [OMIM:108200]
synonym: "arthrogryposis, distal, type 6" RELATED [MONDO:Lexical, OMIM:108200]
synonym: "arthrogryposis-like hand anomaly and sensorineural deafness" RELATED [GARD:0000784]
synonym: "DA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108200]
synonym: "distal arthrogryposis type 6" EXACT [Orphanet:1144]
synonym: "familial hand abnormality and sensori-neural deafness" RELATED [GARD:0000784]
xref: DOID:0111609 {source="MONDO:equivalentTo"}
xref: GARD:784 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:1144/attributed", source="Orphanet:1144/ntbt", source="Orphanet:1144"}
xref: MEDGEN:350677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535386 {source="Orphanet:1144", source="MONDO:equivalentTo", source="Orphanet:1144/e"}
xref: OMIM:108200 {source="Orphanet:1144", source="MONDO:equivalentTo", source="Orphanet:1144/e"}
xref: Orphanet:1144 {source="OMIM:108200", source="MONDO:equivalentTo"}
xref: SCTID:720515009 {source="MONDO:equivalentTo"}
xref: UMLS:C1862471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350677"}
is_a: MONDO:0019942 {source="DC-OMIM:108200", source="Orphanet:1144"} ! distal arthrogryposis

[Term]
id: MONDO:0007160
name: Stickler syndrome type 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5018", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90653"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthroophthalmopathy, hereditary progressive" RELATED [OMIM:108300]
synonym: "Stickler syndrome type 1" EXACT CLINGEN_LABEL []
synonym: "Stickler syndrome, membranous vitreous type" RELATED [OMIM:108300]
synonym: "Stickler syndrome, type 1" RELATED [OMIM:108300]
synonym: "Stickler syndrome, type I" RELATED [MONDO:Lexical, OMIM:108300]
synonym: "Stickler syndrome, vitreous type 1" RELATED [OMIM:108300]
synonym: "STL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108300]
xref: DOID:0080676 {source="MONDO:equivalentTo"}
xref: GARD:5018 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:90653", source="Orphanet:90653/attributed", source="Orphanet:90653/ntbt"}
xref: MEDGEN:810955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537492 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"}
xref: NANDO:2201354 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C168733 {source="MONDO:equivalentTo"}
xref: OMIM:108300 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"}
xref: Orphanet:828 {source="OMIM:108300"}
xref: Orphanet:90653 {source="OMIM:108300", source="MONDO:equivalentTo"}
xref: UMLS:C2020284 {source="MEDGEN:810955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019354 {source="DC-OMIM:108300", source="OMIM:108300", source="Orphanet:90653"} ! Stickler syndrome
is_a: MONDO:0022800 {source="Orphanet:90653", source="PMID:31633310"} ! type 2 collagenopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007161
name: spermatogenic failure 2
subset: gard_rare {source="GARD:15041", source="MONDO:GARD"}
subset: rare
synonym: "Aspermiogenesis Factor" RELATED [OMIM:108420]
synonym: "spermatogenic failure 2" EXACT [MONDO:Lexical, OMIM:108420]
synonym: "SPGF2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108420]
xref: DOID:0070164 {source="MONDO:equivalentTo"}
xref: GARD:15041 {source="MONDO:GARD"}
xref: MEDGEN:400056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108420 {source="MONDO:equivalentTo"}
xref: Orphanet:217034 {source="OMIM:108420"}
xref: UMLS:C1862459 {source="MEDGEN:400056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:108420", source="OMIM:108420"} ! spermatogenic failure

[Term]
id: MONDO:0007162
name: asymmetric short stature syndrome
synonym: "asymmetric short stature syndrome" EXACT [OMIM:108450]
xref: MEDGEN:354753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566248 {source="MONDO:equivalentTo"}
xref: OMIM:108450 {source="MONDO:equivalentTo"}
xref: UMLS:C1862458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354753"}
is_a: MONDO:0003847 {source="MESH:C566248/inferred"} ! hereditary disease

[Term]
id: MONDO:0007163
name: episodic ataxia type 2
def: "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." [Orphanet:97]
subset: gard_rare {source="GARD:9602", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97"}
subset: orphanet_rare {source="Orphanet:97"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acetazolamide-responsive episodic ataxia syndrome" RELATED [GARD:0009602]
synonym: "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia" RELATED [OMIM:108500]
synonym: "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia" RELATED [GARD:0009602]
synonym: "APCA" RELATED ABBREVIATION [GARD:0009602]
synonym: "ataxia, episodic, with Nystagmus" RELATED [OMIM:108500]
synonym: "ataxia, familial paroxysmal" RELATED [OMIM:108500]
synonym: "ataxia, familial, paroxysmal" RELATED [GARD:0009602]
synonym: "CACNA1A hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CAPA" RELATED ABBREVIATION [GARD:0009602]
synonym: "cerebellar ataxia, paroxysmal, Acetazolamide-responsive" RELATED [OMIM:108500]
synonym: "Cerebellopathy, hereditary paroxysmal" RELATED [OMIM:108500]
synonym: "EA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108500]
synonym: "episodic ataxia type 2" EXACT CLINGEN_LABEL [Orphanet:97]
synonym: "episodic ataxia with nystagmus" RELATED [GARD:0009602]
synonym: "episodic ataxia, Nystagmus-associated" RELATED [OMIM:108500]
synonym: "episodic ataxia, type 2" RELATED [MONDO:Lexical, OMIM:108500]
synonym: "familial paroxysmal ataxia" RELATED [Orphanet:97]
synonym: "hereditary episodic ataxia caused by mutation in CACNA1A" EXACT [MONDO:design_pattern]
synonym: "Nystagmus-associated episodic ataxia" RELATED [GARD:0009602]
xref: DOID:0050990 {source="MONDO:equivalentTo"}
xref: GARD:9602 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:97", source="Orphanet:97/attributed", source="Orphanet:97/ntbt"}
xref: MEDGEN:314039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535506 {source="MONDO:equivalentTo"}
xref: OMIM:108500 {source="DOID:0050990", source="Orphanet:97", source="MONDO:equivalentTo", source="Orphanet:97/e"}
xref: Orphanet:97 {source="OMIM:108500", source="MONDO:equivalentTo"}
xref: SCTID:420932006 {source="MONDO:equivalentTo"}
xref: UMLS:C1720416 {source="MEDGEN:314039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016227 {source="DOID:0050990", source="MONDO:Redundant", source="OMIM:108500", source="Orphanet:97"} ! hereditary episodic ataxia
is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder
intersection_of: MONDO:0016227 ! hereditary episodic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 {source="MONDO:mim2gene_medgen"} ! CACNA1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI

[Term]
id: MONDO:0007164
name: spastic ataxia 1
def: "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251282"}
subset: orphanet_rare {source="Orphanet:251282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic ataxia caused by mutation in VAMP1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant spastic ataxia type 1" RELATED [Orphanet:251282]
synonym: "spastic ataxia 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108600]
synonym: "spastic ataxia type 1" EXACT [DOID:0050772, MONDORULE:1]
synonym: "SPAX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108600, Orphanet:251282]
synonym: "VAMP1 autosomal dominant spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0050772 {source="MONDO:equivalentTo"}
xref: GARD:17206 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:251282", source="MONDO:relatedTo", source="Orphanet:251282/attributed", source="Orphanet:251282/ntbt"}
xref: MEDGEN:409988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566993 {source="MONDO:equivalentTo"}
xref: OMIM:108600 {source="Orphanet:251282", source="DOID:0050772", source="MONDO:equivalentTo", source="Orphanet:251282/e"}
xref: Orphanet:251282 {source="OMIM:108600", source="MONDO:equivalentTo"}
xref: UMLS:C1970107 {source="MEDGEN:409988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017845 {source="DOID:0050772", source="MONDO:Redundant", source="OMIM:108600", source="Orphanet:251282/inferred"} ! spastic ataxia
is_a: MONDO:0017846 {source="MONDO:Redundant", source="Orphanet:251282"} ! autosomal dominant spastic ataxia
intersection_of: MONDO:0017846 ! autosomal dominant spastic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12642 ! VAMP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12642 {source="MONDO:mim2gene_medgen"} ! VAMP1

[Term]
id: MONDO:0007165
name: spastic ataxia 7
def: "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present." [Orphanet:1182]
subset: gard_rare {source="GARD:16560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1182"}
subset: orphanet_rare {source="Orphanet:1182"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic ataxia type 7" EXACT [Orphanet:1182]
synonym: "miosis, congenital, with spastic ataxia" RELATED [OMIM:108650]
synonym: "spastic ataxia 7, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108650]
synonym: "spastic ataxia type 7" EXACT [DOID:0050945, MONDORULE:1]
synonym: "spastic ataxia with congenital miosis" RELATED [OMIM:108650]
synonym: "SPAX7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108650, Orphanet:1182]
xref: DOID:0050945 {source="MONDO:equivalentTo"}
xref: GARD:16560 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:1182/attributed", source="Orphanet:1182/ntbt", source="Orphanet:1182"}
xref: MEDGEN:354750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566247 {source="MONDO:equivalentTo"}
xref: OMIM:108650 {source="Orphanet:1182/e", source="MONDO:equivalentTo", source="DOID:0050945", source="Orphanet:1182"}
xref: Orphanet:1182 {source="MONDO:equivalentTo", source="OMIM:108650"}
xref: SCTID:763669001 {source="MONDO:equivalentTo"}
xref: UMLS:C1862441 {source="MEDGEN:354750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017845 {source="DOID:0050945", source="MONDO:Redundant", source="OMIM:108650", source="Orphanet:1182/inferred"} ! spastic ataxia
is_a: MONDO:0017846 {source="Orphanet:1182"} ! autosomal dominant spastic ataxia

[Term]
id: MONDO:0007166
name: ataxia with fasciculations
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ataxia with fasciculations" EXACT [OMIM:108700]
xref: MEDGEN:400052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566246 {source="MONDO:equivalentTo"}
xref: OMIM:108700 {source="MONDO:equivalentTo"}
xref: UMLS:C1862440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400052"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100309 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary ataxia

[Term]
id: MONDO:0007167
name: atelosteogenesis type I
def: "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." [Orphanet:1190]
subset: gard_rare {source="GARD:9287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1190"}
subset: ordo_malformation_syndrome {source="Orphanet:1190"}
subset: orphanet_rare {source="Orphanet:1190"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108720, Orphanet:1190]
synonym: "AOI" EXACT ABBREVIATION [OMIM:108720, Orphanet:1190]
synonym: "atelosteogenesis type 1" EXACT [Orphanet:1190]
synonym: "atelosteogenesis, type 1" RELATED [OMIM:108720]
synonym: "atelosteogenesis, type I" RELATED [MONDO:Lexical, OMIM:108720]
synonym: "giant cell chondrodysplasia" EXACT [OMIM:108720, Orphanet:1190]
synonym: "spondylo-humero-femoral dysplasia" EXACT [Orphanet:1190]
synonym: "spondylohumerofemoral hypoplasia" RELATED [OMIM:108720]
xref: GARD:9287 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:1190", source="Orphanet:1190/attributed", source="Orphanet:1190/ntbt"}
xref: MEDGEN:82701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535396 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"}
xref: OMIM:108720 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"}
xref: Orphanet:1190 {source="OMIM:108720", source="MONDO:equivalentTo"}
xref: SCTID:725141006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265283 {source="MEDGEN:82701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000389 {source="DC-OMIM:108720", source="OMIM:108720"} ! atelosteogenesis
is_a: MONDO:0019690 {source="Orphanet:1190", source="PMID:31633310"} ! filamin-related bone disorder
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:1190", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007168
name: atelosteogenesis type III
def: "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:56305]
subset: gard_rare {source="GARD:10608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:56305"}
subset: ordo_malformation_syndrome {source="Orphanet:56305"}
subset: orphanet_rare {source="Orphanet:56305"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AO3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108721, Orphanet:56305]
synonym: "AOIII" EXACT ABBREVIATION [Orphanet:56305]
synonym: "Aoiii" RELATED [OMIM:108721]
synonym: "atelosteogenesis type 3" EXACT [Orphanet:56305]
synonym: "atelosteogenesis, type 3" RELATED [OMIM:108721]
synonym: "atelosteogenesis, type III" RELATED [MONDO:Lexical, OMIM:108721]
xref: GARD:10608 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:56305", source="Orphanet:56305/attributed", source="Orphanet:56305/ntbt"}
xref: MEDGEN:777149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579928 {source="MONDO:equivalentTo"}
xref: OMIM:108721 {source="Orphanet:56305", source="MONDO:equivalentTo", source="Orphanet:56305/e"}
xref: Orphanet:56305 {source="OMIM:108721", source="MONDO:equivalentTo"}
xref: SCTID:725142004 {source="MONDO:equivalentTo"}
xref: UMLS:C3668942 {source="MEDGEN:777149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000389 {source="DC-OMIM:108721", source="OMIM:108721"} ! atelosteogenesis
is_a: MONDO:0019690 {source="Orphanet:56305", source="PMID:31633310"} ! filamin-related bone disorder
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:56305", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:56305", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:56305", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007169
name: atherosclerosis susceptibility
synonym: "Atherogenic lipoprotein phenotype" RELATED [OMIM:108725]
synonym: "atherosclerosis susceptibility" EXACT [MONDO:Lexical, OMIM:108725]
synonym: "atherosclerosis, susceptibility to" EXACT [OMIM:108725, OMIM:genemap2]
synonym: "ATHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108725]
xref: MEDGEN:283903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108725 {source="MONDO:equivalentTo"}
xref: UMLS:C1531719 {source="MEDGEN:283903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007170
name: atresia of external auditory canal and conductive deafness
subset: gard_rare {source="GARD:18274", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "atresia of external auditory canal and conductive deafness" EXACT [OMIM:108760]
xref: GARD:18274 {source="MONDO:GARD"}
xref: MEDGEN:502760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108760 {source="MONDO:equivalentTo"}
xref: Orphanet:141074 {source="OMIM:108760"}
xref: UMLS:C3502361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:502760"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0007171
name: atrial standstill 1
def: "Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "atrial cardiomyopathy with heart block" RELATED [OMIM:108770]
synonym: "atrial standstill 1" EXACT [MONDO:Lexical, OMIM:108770]
synonym: "atrial standstill caused by mutation in GJA5" EXACT [MONDO:design_pattern]
synonym: "atrial standstill type 1" EXACT [MONDORULE:1, OMIM:108770]
synonym: "atrial standstill, digenic (GJA5/SCN5A)" EXACT [OMIM:108770, OMIM:genemap2]
synonym: "ATRST1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108770]
synonym: "cardiomyopathy, familial, with conduction disturbance" RELATED [OMIM:108770]
synonym: "GJA5 atrial standstill" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080662 {source="MONDO:equivalentTo"}
xref: GARD:18611 {source="MONDO:GARD"}
xref: MEDGEN:1646392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108770 {source="MONDO:equivalentTo"}
xref: Orphanet:1344 {source="OMIM:108770"}
xref: UMLS:C4551959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646392"}
is_a: MONDO:0015281 {source="DC-OMIM:108770", source="MONDO:Redundant"} ! atrial standstill
intersection_of: MONDO:0015281 ! atrial standstill
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4279 ! GJA5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4279 {source="MONDO:mim2gene_medgen"} ! GJA5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007172
name: atrial septal defect 1
def: "An atrial heart septal defect type 1 associated with variation in the region 5p." [DOID:0110106, PMID:9610535]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASD 1" RELATED [OMIM:108800]
synonym: "ASD 2" RELATED [OMIM:108800]
synonym: "ASD1" EXACT ABBREVIATION [DOID:0110106, MONDO:Lexical, OMIM:108800]
synonym: "atrial heart septal defect type 1" EXACT [DOID:0110106, MONDORULE:1]
synonym: "atrial septal defect 1" EXACT [DOID:0110106, MONDO:Lexical, OMIM:108800]
synonym: "atrial septal defect, primum type" RELATED [OMIM:108800]
synonym: "atrial septal defect, secundum type" RELATED [OMIM:108800]
xref: DOID:0110106 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q21.1 {source="DOID:0110106"}
xref: MEDGEN:349495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108800 {source="DOID:0110106", source="MONDO:equivalentTo"}
xref: Orphanet:1478 {source="OMIM:108800"}
xref: UMLS:C1862389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349495"}
is_a: MONDO:0006664 {source="DC-OMIM:108800", source="DOID:0110106", source="OMIM:108800"} ! atrial septal defect

[Term]
id: MONDO:0007173
name: atrial septal defect 7
def: "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." [Orphanet:1479]
subset: gard_rare {source="GARD:16566", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1479"}
subset: ordo_malformation_syndrome {source="Orphanet:1479"}
subset: orphanet_rare {source="Orphanet:1479"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASD with or without atrioventricular conduction defects" EXACT [DOID:0110112, OMIM:108900]
synonym: "ASD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108900]
synonym: "atrial heart septal defect caused by mutation in NKX2-5" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 7" EXACT [DOID:0110112, MONDORULE:1]
synonym: "atrial septal defect 7 with or without atrioventricular conduction defects" RELATED [MONDO:Lexical, OMIM:108900]
synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [DOID:0110112]
synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [DOID:0110112]
synonym: "NKX2-5 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110112 {source="MONDO:equivalentTo"}
xref: GARD:16566 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="Orphanet:1479", source="DOID:0110112", source="Orphanet:1479/attributed", source="Orphanet:1479/ntbt"}
xref: MEDGEN:477726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108900 {source="MONDO:equivalentTo", source="Orphanet:1479", source="DOID:0110112", source="Orphanet:1479/e"}
xref: Orphanet:1479 {source="MONDO:equivalentTo", source="OMIM:108900", source="DOID:0110112"}
xref: UMLS:C3276096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477726"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0006664 {source="DC-OMIM:108900", source="DOID:0110112", source="MONDO:Redundant", source="OMIM:108900", source="OMIM:108900/inferred"} ! atrial septal defect
intersection_of: MONDO:0006664 ! atrial septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5

[Term]
id: MONDO:0007174
name: Lown-Ganong-Levine syndrome
def: "Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)." [Orphanet:844]
subset: gard_rare {source="GARD:16550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:844"}
subset: orphanet_rare {source="Orphanet:844"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrial tachyarrhythmia with short PR interval" EXACT [DOID:13087, OMIM:108950, Orphanet:844]
synonym: "LGL syndrome" EXACT [Orphanet:844]
synonym: "Lown-Ganong-Levine syndrome" EXACT [Orphanet:844]
synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [DOID:13087]
xref: DOID:13087 {source="MONDO:equivalentTo"}
xref: GARD:16550 {source="MONDO:GARD"}
xref: ICD10CM:I45.6 {source="Orphanet:844/inclusion", source="Orphanet:844/ntbt", source="Orphanet:844", source="DOID:13087"}
xref: ICD9:426.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13087"}
xref: MedDRA:10024984 {source="Orphanet:844", source="Orphanet:844/e"}
xref: MEDGEN:354734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008151 {source="MONDO:equivalentTo", source="DOID:13087"}
xref: OMIM:108950 {source="Orphanet:844", source="MONDO:equivalentTo", source="Orphanet:844/e"}
xref: Orphanet:844 {source="OMIM:108950", source="MONDO:equivalentTo", source="DOID:13087"}
xref: SCTID:55475008 {source="MONDO:equivalentTo", source="DOID:13087"}
xref: UMLS:C1862387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354734"}
is_a: MONDO:0002254 {source="DOID:13087"} ! syndromic disease

[Term]
id: MONDO:0007175
name: PR interval, variation in
synonym: "Atrioventricular conduction time, variation in" RELATED [OMIM:108980]
synonym: "PR interval, variation in" EXACT [OMIM:108980]
synonym: "PR interval, variation type in" EXACT [MONDORULE:4, OMIM:108980]
xref: MEDGEN:463601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108980 {source="MONDO:equivalentTo"}
xref: UMLS:C3152251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463601"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007176
name: helicoid peripapillary chorioretinal degeneration
def: "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." [Orphanet:86813]
subset: gard_rare {source="GARD:16757", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86813"}
subset: orphanet_rare {source="Orphanet:86813"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrophia areata" EXACT [OMIM:108985, Orphanet:86813]
synonym: "helicoidal peripapillary chorioretinal Degeneration" RELATED [OMIM:108985]
synonym: "peripapillary chorioretinal Degeneration, Icelandic type" RELATED [OMIM:108985]
synonym: "SCRA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108985, Orphanet:86813]
synonym: "SVEINSSON chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:108985]
synonym: "Sveinsson chorioretinal atrophy" EXACT [Orphanet:86813]
xref: DOID:0111228 {source="MONDO:equivalentTo"}
xref: GARD:16757 {source="MONDO:GARD"}
xref: ICD10CM:H31.2 {source="Orphanet:86813", source="Orphanet:86813/attributed", source="Orphanet:86813/ntbt"}
xref: MEDGEN:354733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566236 {source="MONDO:equivalentTo"}
xref: OMIM:108985 {source="MONDO:equivalentTo", source="Orphanet:86813", source="Orphanet:86813/e"}
xref: Orphanet:86813 {source="OMIM:108985", source="MONDO:equivalentTo"}
xref: SCTID:724384008 {source="MONDO:equivalentTo"}
xref: UMLS:C1862382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354733"}
is_a: MONDO:0019118 {source="Orphanet:86813"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11714 {source="MONDO:mim2gene_medgen"} ! TEAD1

[Term]
id: MONDO:0007177
name: auriculoosteodysplasia
def: "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature." [Orphanet:114]
subset: gard_rare {source="GARD:8663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:114"}
subset: ordo_malformation_syndrome {source="Orphanet:114"}
subset: orphanet_rare {source="Orphanet:114"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "auriculo-osteodysplasia" RELATED [GARD:0008663]
synonym: "auriculoosteodysplasia" EXACT [OMIM:109000]
synonym: "multiple osseous dysplasia, characteristic ear shape, and short stature" RELATED [GARD:0008663]
xref: GARD:8663 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:114", source="Orphanet:114/attributed", source="Orphanet:114/ntbt"}
xref: MEDGEN:400038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538271 {source="Orphanet:114", source="MONDO:equivalentTo", source="Orphanet:114/e"}
xref: OMIM:109000 {source="Orphanet:114", source="MONDO:equivalentTo", source="Orphanet:114/e"}
xref: Orphanet:114 {source="MONDO:equivalentTo", source="OMIM:109000"}
xref: UMLS:C1862381 {source="MONDO:equivalentTo", source="MEDGEN:400038", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="GARD:0008663"} ! musculoskeletal system disorder
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:114", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia" xsd:anyURI {source="GARD:0008663"}

[Term]
id: MONDO:0007178
name: aurocephalosyndactyly
synonym: "aural cephalosyndactyly" RELATED [GARD:0009218]
synonym: "Auralcephalosyndactyly" RELATED [OMIM:109050]
synonym: "aurocephalosyndactyly" EXACT [OMIM:109050]
synonym: "Kurczynski-Casperson syndrome" RELATED [GARD:0009218]
xref: MEDGEN:354732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566235 {source="MONDO:equivalentTo"}
xref: OMIM:109050 {source="MONDO:equivalentTo"}
xref: Orphanet:1219 {source="MONDO:equivalentObsolete", source="OMIM:109050"}
xref: UMLS:C1862380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354732"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007179
name: autoimmune disease
def: "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." [NCIT:C2889]
comment: Editor note: check OMIM
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "autoimmune disease" EXACT [EFO:0005140, NCIT:C2889, OMIM:109100]
synonym: "autoimmune disease or disorder" EXACT []
synonym: "autoimmune disorder" EXACT [NCIT:C2889]
synonym: "autoimmune hypersensitivity disease" RELATED [DOID:417]
synonym: "disease, autoimmune" EXACT [NCIT:C2889]
synonym: "hypersensitivity reaction type II disease" RELATED [DOID:417]
xref: DOID:417 {source="MONDO:equivalentTo"}
xref: EFO:0005809 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:279.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:720 {source="DOID:417"}
xref: MEDGEN:2135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001327 {source="MONDO:equivalentTo"}
xref: NCIT:C2889 {source="MONDO:equivalentTo", source="EFO:0005140"}
xref: OBI:1110054 {source="MONDO:equivalentTo", source="EFO:0005140"}
xref: OMIM:109100 {source="DOID:417", source="MONDO:equivalentTo"}
xref: SCTID:85828009 {source="MONDO:equivalentTo", source="EFO:0005140"}
xref: UMLS:C0004364 {source="MONDO:equivalentTo", source="MEDGEN:2135", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="DOID:417/inferred", source="EFO:0005140", source="MESH:D001327", source="MONDO:Redundant", source="NCIT:C2889"} ! immune system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: excluded_subClassOf MONDO:0000605 {source="DOID:417", source="MONDO:Entailed", source="https://orcid.org/0000-0001-5208-3432"} ! hypersensitivity reaction disease

[Term]
id: MONDO:0007180
name: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
synonym: "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" EXACT [OMIM:109120]
synonym: "De Hauwere syndrome" RELATED [OMIM:109120]
synonym: "iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness" RELATED [OMIM:109120]
xref: MEDGEN:349489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566234 {source="MONDO:equivalentTo"}
xref: OMIM:109120 {source="MONDO:equivalentTo"}
xref: Orphanet:1831 {source="MONDO:equivalentObsolete", source="OMIM:109120"}
xref: UMLS:C1862373 {source="MEDGEN:349489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007181
name: axial osteomalacia
synonym: "atypical osteomalacia involving the axial skeleton" RELATED [GARD:0008431]
synonym: "axial osteomalacia" EXACT [OMIM:109130]
xref: DOID:0080039 {source="MONDO:equivalentTo"}
xref: MEDGEN:354730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537791 {source="MONDO:equivalentTo"}
xref: OMIM:109130 {source="MONDO:equivalentTo"}
xref: UMLS:C1862372 {source="MEDGEN:354730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002933 {source="DOID:0080039"} ! osteosclerosis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature HP:0011001 ! Increased bone mineral density
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia" xsd:anyURI {source="GARD:0008431"}

[Term]
id: MONDO:0007182
name: Machado-Joseph disease
def: "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." [Orphanet:98757]
subset: gard_rare {source="GARD:6801", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1389"}
subset: ordo_disorder {source="Orphanet:98757"}
subset: orphanet_rare {source="Orphanet:98757"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant striatonigral degeneration" EXACT [Orphanet:98757]
synonym: "Azorean disease" EXACT [DOID:1440]
synonym: "Azorean disease of the nervous system" EXACT [Orphanet:98757]
synonym: "Azorean neurologic disease" RELATED [OMIM:109150]
synonym: "Machado disease" EXACT [Orphanet:98757]
synonym: "Machado-Joseph disease" EXACT [MONDO:Lexical, OMIM:109150, Orphanet:98757]
synonym: "MJD" EXACT ABBREVIATION [DOID:1440, MONDO:Lexical, OMIM:109150, Orphanet:98757]
synonym: "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia" EXACT [Orphanet:98757]
synonym: "Nigrospinodentatal Degeneration" RELATED [OMIM:109150]
synonym: "SCA3" EXACT ABBREVIATION [Orphanet:98757]
synonym: "spinocerebellar ataxia 3" EXACT [DOID:1440, OMIM:109150]
synonym: "spinocerebellar ataxia type 3" EXACT [DOID:1440]
synonym: "spinocerebellar atrophy 3" RELATED [OMIM:109150]
synonym: "spinocerebellar atrophy type 3" RELATED [GARD:0006801]
synonym: "Spinopontine atrophy" RELATED [OMIM:109150]
xref: DOID:1440 {source="MONDO:equivalentTo"}
xref: GARD:6801 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:98757", source="Orphanet:98757/attributed", source="Orphanet:98757/ntbt"}
xref: ICD9:336.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:9841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017827 {source="DOID:1440", source="MONDO:equivalentTo"}
xref: NANDO:1200041 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84830 {source="DOID:1440", source="MONDO:equivalentTo"}
xref: NORD:1389 {source="MONDO:NORD"}
xref: OMIM:109150 {source="DOID:1440", source="MONDO:equivalentTo", source="Orphanet:98757", source="Orphanet:98757/e"}
xref: Orphanet:98757 {source="MONDO:equivalentTo", source="OMIM:109150"}
xref: SCTID:91952008 {source="DOID:1440", source="MONDO:equivalentTo"}
xref: UMLS:C0024408 {source="MEDGEN:9841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015548 {source="Orphanet:98757"} ! Huntington disease-like syndrome
is_a: MONDO:0019792 {source="Orphanet:98757"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7106 {source="MONDO:mim2gene_medgen"} ! ATXN3

[Term]
id: MONDO:0007183
name: azotemia, familial
synonym: "azotemia, familial" EXACT [OMIM:109160]
xref: MEDGEN:400033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566233 {source="MONDO:equivalentTo"}
xref: OMIM:109160 {source="MONDO:equivalentTo"}
xref: UMLS:C1862358 {source="MEDGEN:400033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566233/inferred"} ! hereditary disease

[Term]
id: MONDO:0007184
name: alopecia, androgenetic, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:109200]
synonym: "alopecia, androgenetic, 1" EXACT [MONDO:Lexical, OMIM:109200]
synonym: "baldness, Male pattern" RELATED [OMIM:109200]
xref: MEDGEN:886756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:109200 {source="MONDO:equivalentTo"}
xref: UMLS:C4049090 {source="MEDGEN:886756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000005 {source="DC-OMIM:109200", source="OMIM:109200"} ! alopecia, isolated
is_a: MONDO:0005339 ! androgenetic alopecia

[Term]
id: MONDO:0007185
name: Banki syndrome
def: "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965." [Orphanet:1228]
subset: gard_rare {source="GARD:813", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1228"}
subset: ordo_malformation_syndrome {source="Orphanet:1228"}
subset: orphanet_rare {source="Orphanet:1228"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Banki syndrome" EXACT [OMIM:109300]
synonym: "fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)" RELATED [GARD:0000813]
xref: GARD:813 {source="MONDO:GARD"}
xref: ICD10CM:Q68.1 {source="Orphanet:1228", source="Orphanet:1228/attributed", source="Orphanet:1228/ntbt"}
xref: MEDGEN:350648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566228 {source="MONDO:equivalentTo"}
xref: OMIM:109300 {source="MONDO:equivalentTo", source="Orphanet:1228", source="Orphanet:1228/e"}
xref: Orphanet:1228 {source="OMIM:109300", source="MONDO:equivalentTo"}
xref: SCTID:733093004 {source="MONDO:equivalentTo"}
xref: UMLS:C1862319 {source="MEDGEN:350648", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001411 {source="Orphanet:1228"} ! synostosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/813/banki-syndrome" xsd:anyURI {source="GARD:0000813"}

[Term]
id: MONDO:0007186
name: gastroesophageal reflux disease
def: "A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa." [NCIT:C26781]
subset: otar {source="MONDO:OTAR"}
synonym: "acid reflux" EXACT [DOID:8534]
synonym: "Gastresophageal reflux" EXACT [DOID:8534]
synonym: "gastro-esophageal reflux" EXACT [DOID:8534]
synonym: "gastroesophageal reflux" EXACT [DOID:8534, MONDO:Lexical, OMIM:109350]
synonym: "gastroesophageal reflux disease" EXACT [DOID:8534, MTH:NOCODE, OMIM:109350]
synonym: "gastroesophageal reflux, paediatric" RELATED OMO:0003005 []
synonym: "gastroesophageal reflux, pediatric" RELATED [OMIM:109350]
synonym: "ger" RELATED [MONDO:Lexical, OMIM:109350]
synonym: "GERD" EXACT ABBREVIATION [DOID:8534, NCIT:C26781]
synonym: "GERD - gastro-esophageal reflux disease" EXACT [DOID:8534]
xref: DOID:8534 {source="MONDO:equivalentTo", source="EFO:0003948"}
xref: EFO:0003948 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K21 {source="DOID:8534"}
xref: ICD10CM:K21.9 {source="DOID:8534"}
xref: ICD9:530.81 {source="DOID:8534", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003948"}
xref: MEDGEN:6553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005764 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948"}
xref: NCIT:C26781 {source="DOID:8534", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0003948"}
xref: NCIT:C92560 {source="DOID:8534", source="MONDO:otherHierarchy"}
xref: OMIM:109350 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948"}
xref: SCTID:102620007 {source="DOID:8534"}
xref: SCTID:155673008 {source="DOID:8534"}
xref: SCTID:196600005 {source="DOID:8534"}
xref: SCTID:196624002 {source="DOID:8534"}
xref: SCTID:235595009 {source="DOID:8534", source="MONDO:equivalentTo", source="EFO:0003948"}
xref: SCTID:266498005 {source="DOID:8534"}
xref: SCTID:54856001 {source="DOID:8534"}
xref: SCTID:698065002 {source="DOID:8534"}
xref: UMLS:C0017168 {source="MEDGEN:6553", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="MESH:D005764/inferred", source="MONDO:Redundant", source="NCIT:C26781/inferred"} ! esophageal disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: disease_has_location UBERON:0000945 {source="EFO:0000784"} ! stomach
relationship: disease_has_location UBERON:0001043 {source="EFO:0000784"} ! esophagus

[Term]
id: MONDO:0007187
name: nevoid basal cell carcinoma syndrome
def: "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." [Orphanet:377]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7166", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1507", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:377"}
subset: ordo_malformation_syndrome {source="Orphanet:377"}
subset: orphanet_rare {source="Orphanet:377"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basal cell nevus syndrome" EXACT [DOID:2512, MONDO:Lexical, OMIM:109400, Orphanet:377]
synonym: "BCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109400]
synonym: "Gorlin syndrome" EXACT [DOID:2512, OMIM:109400]
synonym: "Gorlin-Goltz syndrome" EXACT [OMIM:109400, Orphanet:377]
synonym: "multiple basal cell carcinomas" EXACT [NCIT:C2892]
synonym: "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" RELATED [OMIM:109400]
synonym: "NBCCS" EXACT ABBREVIATION [Orphanet:377]
synonym: "nevoid basal cell cancer syndrome" EXACT [NCIT:C2892]
synonym: "nevoid basal cell carcinoma syndrome" EXACT CLINGEN_LABEL [OMIM:109400, Orphanet:377]
xref: DOID:0070365 {source="MONDO:equivalentTo"}
xref: DOID:2512 {source="MONDO:equivalentTo"}
xref: GARD:7166 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:377/attributed", source="Orphanet:377/ntbt", source="Orphanet:377"}
xref: icd11.foundation:1012745138 {source="MONDO:equivalentTo", source="Orphanet:377", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10062804 {source="Orphanet:377/e", source="Orphanet:377"}
xref: MEDGEN:2554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001478 {source="DOID:2512", source="MONDO:equivalentTo"}
xref: NANDO:2200828 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2892 {source="DOID:2512", source="MONDO:equivalentTo"}
xref: NORD:1507 {source="MONDO:NORD"}
xref: OMIMPS:109400 {source="MONDO:equivalentTo"}
xref: Orphanet:377 {source="OMIM:109400", source="MONDO:equivalentTo"}
xref: SCTID:188145001 {source="DOID:2512"}
xref: SCTID:254704004 {source="DOID:2512"}
xref: SCTID:69408002 {source="DOID:2512", source="MONDO:equivalentTo"}
xref: UMLS:C0004779 {source="MEDGEN:2554", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:2512", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="NCIT:C2892/inferred", source="Orphanet:377"} ! hereditary neoplastic syndrome
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021147 ! disorder of development or morphogenesis
is_a: MONDO:0042983 {source="NCIT:C2892", source="Wikipedia:Phakomatosis"} ! neurocutaneous syndrome
relationship: disease_has_feature MONDO:0020175 {source="Orphanet:377"} ! malignant tumor of palpebral epidermis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:109400", source="Orphanet:377"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:109400"} ! inherited

[Term]
id: MONDO:0007188
name: primary basilar invagination
def: "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." [Orphanet:2285]
subset: gard_rare {source="GARD:1037", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2285"}
subset: ordo_morphological_anomaly {source="Orphanet:2285"}
subset: orphanet_rare {source="Orphanet:2285"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basilar impression, primary" RELATED [OMIM:109500]
synonym: "Bull-Nixon syndrome" EXACT [Orphanet:2285]
synonym: "primary basilar impression" RELATED [GARD:0001037]
xref: GARD:1037 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:2285/attributed", source="Orphanet:2285/ntbt", source="Orphanet:2285"}
xref: MEDGEN:400018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566226 {source="MONDO:equivalentTo"}
xref: OMIM:109500 {source="Orphanet:2285/e", source="MONDO:equivalentTo", source="Orphanet:2285"}
xref: Orphanet:2285 {source="OMIM:109500", source="MONDO:equivalentTo"}
xref: UMLS:C1862299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400018"}
is_a: MONDO:0005172 {source="PMID:28846299", source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0007189
name: obsolete B-cell growth factor
synonym: "B-cell growth factor" EXACT [MONDO:Lexical, OMIM:109540]
synonym: "B-cell growth Factor 1" RELATED [OMIM:109540]
synonym: "BCGF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109540]
xref: OMIM:109540 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2943" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007190
name: leukemia, chronic lymphocytic, susceptibility to, 2
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "B-cell malignancy, low-grade" RELATED [OMIM:109543]
synonym: "Clls2" RELATED [OMIM:109543]
synonym: "disrupted in B-cell malignancy" RELATED [OMIM:109543]
synonym: "leukemia, chronic lymphocytic, B-cell" RELATED [OMIM:109543]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 2" EXACT [OMIM:109543]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:109543]
xref: MEDGEN:358385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:109543 {source="MONDO:equivalentTo"}
xref: Orphanet:67038 {source="OMIM:109543"}
xref: UMLS:C1868683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358385"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="https://orcid.org/0000-0002-6601-2165"} ! B-cell chronic lymphocytic leukemia

[Term]
id: MONDO:0007191
name: Behcet disease
def: "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." [Orphanet:117]
subset: gard_rare {source="GARD:848", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:117"}
subset: orphanet_rare {source="Orphanet:117"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adamantiades-Behcet disease" EXACT [DOID:13241]
synonym: "BD" RELATED ABBREVIATION [GARD:0000848]
synonym: "Bechet syndrome" EXACT []
synonym: "Behcet disease" EXACT [OMIM:109650]
synonym: "Behcet syndrome" EXACT [DOID:13241, OMIM:109650]
synonym: "Behcet's disease" RELATED [DOID:13241]
synonym: "Behcet's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13241, ICD9CM:136.1, MONDO:LexicalVariant]
synonym: "Behet's syndrome" EXACT [DOID:13241]
synonym: "Behçet disease" EXACT [NCIT:C34416]
synonym: "Behçet syndrome" EXACT [NCIT:C34416]
synonym: "Behçet's disease" RELATED [GARD:0000848]
synonym: "Behçet's syndrome" EXACT [NCIT:C34416]
synonym: "Behçet-Adamantiades syndrome" EXACT [NCIT:C34416]
synonym: "Behçet’s disease" RELATED [GARD:0000848]
synonym: "Morbus Behçet's syndrome" EXACT [NCIT:C34416]
synonym: "silk road disease" EXACT [NCIT:C34416]
synonym: "triple symptom complex" EXACT [DOID:13241]
xref: DOID:13241 {source="MONDO:equivalentTo", source="EFO:0003780"}
xref: EFO:0003780 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:848 {source="MONDO:GARD"}
xref: ICD10CM:M35.2 {source="Orphanet:117", source="Orphanet:117/e", source="DOID:13241"}
xref: icd11.foundation:1668927157 {source="Orphanet:117", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:136.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13241", source="EFO:0003780"}
xref: MedDRA:10004213 {source="Orphanet:117", source="Orphanet:117/e"}
xref: MEDGEN:2568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001528 {source="Orphanet:117", source="MONDO:equivalentTo", source="Orphanet:117/e", source="DOID:13241", source="EFO:0003780"}
xref: NANDO:1200284 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200422 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34416 {source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"}
xref: OMIM:109650 {source="Orphanet:117", source="MONDO:equivalentTo", source="Orphanet:117/e", source="DOID:13241", source="EFO:0003780"}
xref: Orphanet:117 {source="MONDO:equivalentTo", source="OMIM:109650"}
xref: SCTID:154424000 {source="DOID:13241"}
xref: SCTID:310701003 {source="MONDO:equivalentTo", source="DOID:13241", source="EFO:0003780"}
xref: SCTID:41225007 {source="DOID:13241"}
xref: UMLS:C0004943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2568"}
is_a: MONDO:0002254 {source="NCIT:C34416"} ! syndromic disease
is_a: MONDO:0019293 {source="MESH:D001528"} ! skin vascular disease
relationship: disease_has_feature HP:0000554 ! Uveitis
relationship: disease_has_location UBERON:0001981 {source="EFO:0000784"} ! blood vessel
relationship: excluded_subClassOf MONDO:0015488 {source="Orphanet:117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete predominantly large-vessel vasculitis
relationship: excluded_subClassOf MONDO:0015657 {source="Orphanet:117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inflammatory and autoimmune disease with epilepsy
relationship: excluded_subClassOf MONDO:0017259 {source="Orphanet:117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic diseases with anterior uveitis
relationship: excluded_subClassOf MONDO:0017260 {source="Orphanet:117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic diseases with posterior uveitis
relationship: excluded_subClassOf MONDO:0017261 {source="Orphanet:117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic diseases with panuveitis
relationship: excluded_subClassOf MONDO:0017370 {source="Orphanet:117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autoinflammatory syndrome with skin involvement
relationship: excluded_subClassOf MONDO:0017957 {source="Orphanet:117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0007192
name: beta-amino acids, renal transport of
synonym: "AABT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:109660]
synonym: "BETA-amino acids, renal TRANSPORT OF" RELATED [MONDO:Lexical, OMIM:109660]
synonym: "taurine renal reabsorption" RELATED [OMIM:109660]
xref: MEDGEN:349470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:109660 {source="MONDO:equivalentTo"}
xref: UMLS:C1862289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349470"}
is_a: MONDO:0003847 {source="OMIM:109660/inferred"} ! hereditary disease

[Term]
id: MONDO:0007193
name: primary biliary cholangitis 1
subset: gard_rare {source="GARD:15043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "biliary cirrhosis, primary, 1" RELATED [MONDO:Lexical, OMIM:109720]
synonym: "Pbc" RELATED [OMIM:109720]
synonym: "PBC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109720]
xref: DOID:0070358 {source="MONDO:equivalentTo"}
xref: GARD:15043 {source="MONDO:GARD"}
xref: MEDGEN:1642459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:109720 {source="MONDO:equivalentTo"}
xref: Orphanet:186 {source="OMIM:109720"}
xref: UMLS:C4551595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642459"}
is_a: MONDO:0005388 {source="DC-OMIM:109720", source="OMIM:109720"} ! primary biliary cholangitis

[Term]
id: MONDO:0007194
name: familial bicuspid aortic valve
def: "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." [https://orcid.org/0000-0001-5208-3432, Orphanet:402075]
subset: gard_rare {source="GARD:17670", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402075"}
subset: ordo_morphological_anomaly {source="Orphanet:402075"}
subset: orphanet_rare {source="Orphanet:402075"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aortic valve disease 1" NARROW [MONDO:Lexical, OMIM:109730]
synonym: "aortic valve disease type 1" NARROW [MONDORULE:1, OMIM:109730]
synonym: "AOVD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:109730]
synonym: "familial BAV" EXACT [Orphanet:402075]
xref: DOID:0080332 {source="MONDO:equivalentTo"}
xref: GARD:17670 {source="MONDO:GARD"}
xref: ICD10CM:Q23.1 {source="Orphanet:402075/attributed", source="Orphanet:402075/ntbt", source="Orphanet:402075"}
xref: MEDGEN:1670287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:109730 {source="DOID:0080332", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1244
xref: Orphanet:402075 {source="OMIM:109730", source="DOID:0080332", source="MONDO:equivalentTo"}
xref: UMLS:C4749284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670287"}
is_a: MONDO:0003803 {source="DOID:0080332", source="MONDO:Redundant", source="OMIM:109730"} ! aortic valve disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005385 ! vascular disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:109730"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007195
name: bifid nose, autosomal dominant
subset: gard_rare {source="GARD:15044", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bifid nose, autosomal dominant" EXACT [OMIM:109740]
xref: GARD:15044 {source="MONDO:GARD"}
xref: MEDGEN:414016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:109740 {source="MONDO:equivalentTo"}
xref: Orphanet:2695 {source="OMIM:109740"}
xref: UMLS:C2751431 {source="MEDGEN:414016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000110 {source="DC-OMIM:109740"} ! bifid nose

[Term]
id: MONDO:0007196
name: obsolete bladder cancer
comment: OMIM references Orphanet:157980 but this does not exist
is_obsolete: true
replaced_by: MONDO:0001187

[Term]
id: MONDO:0007197
name: bladder diverticulum
subset: otar {source="MONDO:OTAR"}
synonym: "bladder diverticulum" EXACT [MONDO:ambiguous, OMIM:109820]
synonym: "bladder diverticulum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "diverticulum - bladder" EXACT [DOID:11353]
synonym: "diverticulum of bladder" EXACT [DOID:11353]
xref: DOID:11353 {source="MONDO:equivalentTo"}
xref: HP:0000015 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N32.3 {source="MONDO:equivalentTo", source="DOID:11353"}
xref: ICD9:596.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11353"}
xref: MEDGEN:57625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562406 {source="MONDO:equivalentTo", source="DOID:11353"}
xref: NCIT:C160155 {source="MONDO:equivalentTo"}
xref: OMIM:109820 {source="MONDO:equivalentTo", source="DOID:11353"}
xref: SCTID:155888001 {source="DOID:11353"}
xref: SCTID:156977001 {source="DOID:11353"}
xref: SCTID:197866008 {source="MONDO:equivalentTo", source="DOID:11353"}
xref: SCTID:197869001 {source="DOID:11353"}
xref: SCTID:21853005 {source="DOID:11353"}
xref: SCTID:252004007 {source="DOID:11353"}
xref: SCTID:268335001 {source="DOID:11353"}
xref: UMLS:C0156273 {source="MEDGEN:57625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0006026 {source="DOID:11353"} ! urinary bladder disorder
property_value: IAO:0000589 "bladder diverticulum (disease)" xsd:string

[Term]
id: MONDO:0007198
name: Ascher syndrome
def: "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported." [Orphanet:1253]
subset: gard_rare {source="GARD:201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1253"}
subset: ordo_malformation_syndrome {source="Orphanet:1253"}
subset: orphanet_rare {source="Orphanet:1253"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ascher syndrome" EXACT [OMIM:109900]
synonym: "Ascher's syndrome" RELATED [GARD:0000201]
synonym: "blepharochalasis - double lip" RELATED [GARD:0000201]
synonym: "blepharochalasis and DOUBLE LIP" RELATED [OMIM:109900]
synonym: "blepharochalasis and Double lip" RELATED [OMIM:109900]
synonym: "blepharochalasis and double lip" RELATED [GARD:0000201]
synonym: "blepharochalasis and Double type lip" EXACT [MONDORULE:4, OMIM:109900]
synonym: "blepharochalasis-double lip syndrome" EXACT [Orphanet:1253]
synonym: "Double upper lip, blepharochalasis and enlargement of the thyroid" RELATED [GARD:0000201]
xref: GARD:201 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1253", source="Orphanet:1253/attributed", source="Orphanet:1253/ntbt"}
xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562742 {source="MONDO:equivalentTo"}
xref: OMIM:109900 {source="Orphanet:1253", source="MONDO:equivalentTo", source="Orphanet:1253/e"}
xref: Orphanet:1253 {source="MONDO:equivalentTo", source="OMIM:109900"}
xref: SCTID:28599006 {source="MONDO:equivalentTo"}
xref: UMLS:C0339085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137910"}
is_a: MONDO:0015161 {source="Orphanet:1253"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome" xsd:anyURI {source="GARD:0000201"}

[Term]
id: MONDO:0007199
name: blepharochalasis, superior
synonym: "blepharochalasis, superior" EXACT [OMIM:110000]
xref: MEDGEN:349465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566223 {source="MONDO:equivalentTo"}
xref: OMIM:110000 {source="MONDO:equivalentTo"}
xref: UMLS:C1862275 {source="MEDGEN:349465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007200
name: blepharonasofacial malformation syndrome
def: "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." [Orphanet:1252]
subset: gard_rare {source="GARD:4238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1252"}
subset: ordo_malformation_syndrome {source="Orphanet:1252"}
subset: orphanet_rare {source="Orphanet:1252"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharonasofacial malformation syndrome" EXACT [OMIM:110050]
synonym: "Pashayan syndrome" EXACT [OMIM:110050, Orphanet:1252]
synonym: "Pashayan-Prozansky syndrome" EXACT [Orphanet:1252]
xref: GARD:4238 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1252", source="Orphanet:1252/attributed", source="Orphanet:1252/ntbt"}
xref: MEDGEN:163226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536303 {source="MONDO:equivalentTo"}
xref: OMIM:110050 {source="Orphanet:1252", source="MONDO:equivalentTo", source="Orphanet:1252/e"}
xref: Orphanet:1252 {source="OMIM:110050", source="MONDO:equivalentTo"}
xref: SCTID:717913006 {source="MONDO:equivalentTo"}
xref: UMLS:C0796197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163226"}
is_a: MONDO:0015159 {source="Orphanet:1252"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1252", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome" xsd:anyURI {source="GARD:0004238"}

[Term]
id: MONDO:0007201
name: blepharophimosis, ptosis, and epicanthus inversus syndrome
def: "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)." [Orphanet:126]
subset: gard_rare {source="GARD:23", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:862"}
subset: ordo_disorder {source="Orphanet:126"}
subset: ordo_malformation_syndrome {source="Orphanet:126"}
subset: orphanet_rare {source="Orphanet:126"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis syndrome type 1" RELATED [GARD:0000023]
synonym: "blepharophimosis types 1 and 2" EXACT [Orphanet:126]
synonym: "blepharophimosis, epicanthus inversus, and ptosis, type 1" EXACT [OMIM:110100, OMIM:genemap2]
synonym: "blepharophimosis, epicanthus inversus, and ptosis, type 2" EXACT [OMIM:110100, OMIM:genemap2]
synonym: "blepharophimosis, ptosis, and epicanthus inversus" EXACT [MONDO:Lexical, OMIM:110100]
synonym: "blepharophimosis, ptosis, and epicanthus inversus syndrome" EXACT CLINGEN_LABEL []
synonym: "blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" RELATED [GARD:0000023]
synonym: "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome" EXACT [NORD:862]
synonym: "blepharophimosis, ptosis, epicanthus inversus syndrome" EXACT [DOID:14778]
synonym: "blepharophimosis, ptosis, epicanthus inversus with ovarian failure" RELATED [GARD:0000023]
synonym: "blepharophimosis-epicanthus inversus-ptosis syndrome" EXACT [Orphanet:126]
synonym: "BPES" EXACT ABBREVIATION [MONDO:Lexical, OMIM:110100]
synonym: "BPES type 1" RELATED [GARD:0000023]
synonym: "BPES with Duane retraction syndrome" RELATED [OMIM:110100]
synonym: "BPES with ovarian failure" RELATED [OMIM:110100]
synonym: "BPES with premature ovarian failure" RELATED [GARD:0000023]
synonym: "BPES without ovarian failure" RELATED [OMIM:110100]
synonym: "BPES, type 1" RELATED [OMIM:110100]
synonym: "BPES, type 2" RELATED [OMIM:110100]
synonym: "BPES, type I, autosomal recessive" RELATED [OMIM:110100]
xref: DOID:14778 {source="MONDO:equivalentTo"}
xref: GARD:23 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:126", source="Orphanet:126/attributed", source="Orphanet:126/ntbt"}
xref: MEDGEN:66312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562419 {source="DOID:14778", source="MONDO:equivalentTo"}
xref: NORD:862 {source="MONDO:NORD"}
xref: OMIM:110100 {source="Orphanet:126", source="DOID:14778", source="GARD:0000023", source="MONDO:equivalentTo", source="Orphanet:126/e"}
xref: Orphanet:126 {source="GARD:0000023", source="MONDO:equivalentTo", source="OMIM:110100"}
xref: SCTID:715391004 {source="MONDO:equivalentTo"}
xref: SCTID:79833006 {source="DOID:14778"}
xref: UMLS:C0220663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66312"}
is_a: MONDO:0000426 {source="DOID:14778", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0008537 {source="Orphanet:126"} ! telecanthus
is_a: MONDO:0019852 {source="Orphanet:126"} ! inherited primary ovarian failure
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:126", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:110100", source="Orphanet:126"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="MONDO:mim2gene_medgen"} ! FOXL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007202
name: blepharoptosis-myopia-ectopia lentis syndrome
def: "This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia." [Orphanet:1259]
subset: gard_rare {source="GARD:912", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1259"}
subset: orphanet_rare {source="Orphanet:1259"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharoptosis myopia ectopia lentis" RELATED [GARD:0000912]
synonym: "blepharoptosis, myopia, and ectopia lentis" RELATED [OMIM:110150]
synonym: "dominantly inherited blepharoptosis, high myopia, and ectopia lentis" RELATED [GARD:0000912]
xref: GARD:912 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:1259", source="Orphanet:1259/attributed", source="Orphanet:1259/ntbt"}
xref: MEDGEN:400006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536236 {source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"}
xref: OMIM:110150 {source="MONDO:equivalentTo", source="Orphanet:1259", source="Orphanet:1259/e"}
xref: Orphanet:1259 {source="OMIM:110150", source="MONDO:equivalentTo"}
xref: SCTID:717915004 {source="MONDO:equivalentTo"}
xref: UMLS:C1862259 {source="MEDGEN:400006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001176 ! lens disorder
is_a: MONDO:0005328 ! eye disorder
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1259", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye

[Term]
id: MONDO:0007203
name: blue rubber bleb nevus
def: "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." [Orphanet:1059]
subset: gard_rare {source="GARD:5940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:865"}
subset: ordo_disorder {source="Orphanet:1059"}
subset: ordo_malformation_syndrome {source="Orphanet:1059"}
subset: orphanet_rare {source="Orphanet:1059"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bean syndrome" EXACT [OMIM:112200, Orphanet:1059]
synonym: "blue rubber bleb nevus" EXACT [OMIM:112200]
synonym: "Blue Rubber Bleb Nevus syndrome" EXACT [NORD:865]
synonym: "blue rubber bleb nevus syndrome" EXACT [GARD:0005940]
synonym: "BRBN" EXACT ABBREVIATION [Orphanet:1059]
synonym: "BRBNS" EXACT ABBREVIATION [GARD:0005940]
xref: GARD:5940 {source="MONDO:GARD"}
xref: ICD10CM:Q27.8 {source="Orphanet:1059/attributed", source="Orphanet:1059/ntbt", source="Orphanet:1059"}
xref: MEDGEN:83401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536240 {source="Orphanet:1059", source="MONDO:equivalentTo", source="Orphanet:1059/e"}
xref: NANDO:2201027 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4486 {source="MONDO:equivalentTo"}
xref: NORD:865 {source="MONDO:NORD"}
xref: OMIM:112200 {source="Orphanet:1059", source="MONDO:equivalentTo", source="Orphanet:1059/e"}
xref: Orphanet:1059 {source="MONDO:equivalentTo", source="OMIM:112200"}
xref: SCTID:254784002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346072 {source="MEDGEN:83401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:1059"} ! disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015356 {source="Orphanet:1059"} ! hereditary neoplastic syndrome
is_a: MONDO:0019293 {source="Orphanet:1059"} ! skin vascular disease
relationship: excluded_subClassOf MONDO:0018715 {source="NCIT:C4486", source="https://orcid.org/0000-0001-5208-3432"} ! congenital hemangioma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare

[Term]
id: MONDO:0007204
name: Cole-Carpenter syndrome 1
def: "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features" RELATED [OMIM:112240]
synonym: "CLCRP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112240]
synonym: "COLE-CARPENTER syndrome 1" RELATED [OMIM:112240]
synonym: "Cole-Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:112240]
synonym: "Cole-Carpenter syndrome caused by mutation in P4HB" EXACT [MONDO:design_pattern]
synonym: "Cole-Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:112240]
synonym: "P4HB Cole-Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:1374755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:112240 {source="MONDO:equivalentTo"}
xref: Orphanet:2050 {source="OMIM:112240"}
xref: UMLS:C4317154 {source="MEDGEN:1374755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016085 {source="DC-OMIM:112240", source="MONDO:Redundant", source="OMIM:112240"} ! Cole-Carpenter syndrome
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0016085 ! Cole-Carpenter syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8548 ! P4HB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8548 {source="MONDO:mim2gene_medgen"} ! P4HB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007205
name: diaphyseal medullary stenosis-bone malignancy syndrome
def: "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." [Orphanet:85182]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85182"}
subset: orphanet_rare {source="Orphanet:85182"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDMF" RELATED ABBREVIATION [GARD:0010072]
synonym: "bone dysplasia with malignant fibrous histiocytoma" RELATED [OMIM:112250]
synonym: "bone dysplasia with medullary fibrosarcoma" RELATED [OMIM:112250]
synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT [Orphanet:85182]
synonym: "diaphyseal medullary stenosis with malignant fibrous histiocytoma" RELATED [MONDO:Lexical, OMIM:112250]
synonym: "diaphyseal medullary stenosis-bone malignancy syndrome" EXACT CLINGEN_LABEL []
synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT [Orphanet:85182]
synonym: "DMS-MFH" EXACT [NCIT:C122660]
synonym: "DMSMFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112250]
synonym: "Hardcastle syndrome" EXACT [Orphanet:85182]
synonym: "Hardcastle's syndrome" EXACT [NCIT:C122660]
synonym: "myopathy, limb-girdle, with bone fragility" RELATED [OMIM:112250]
xref: DOID:0080664 {source="MONDO:equivalentTo"}
xref: GARD:10072 {source="MONDO:GARD"}
xref: ICD10CM:M89.8 {source="Orphanet:85182/attributed", source="Orphanet:85182/ntbt", source="Orphanet:85182"}
xref: MEDGEN:350613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536169 {source="Orphanet:85182/e", source="Orphanet:85182"}
xref: NCIT:C122660 {source="MONDO:equivalentTo"}
xref: OMIM:112250 {source="Orphanet:85182/e", source="MONDO:equivalentTo", source="Orphanet:85182"}
xref: Orphanet:85182 {source="OMIM:112250", source="MONDO:equivalentTo"}
xref: UMLS:C1862177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350613"}
is_a: MONDO:0005070 {source="Orphanet:85182"} ! neoplasm
is_a: MONDO:0018230 {source="Orphanet:85182"} ! skeletal dysplasia
is_a: MONDO:0019060 {source="Orphanet:85182"} ! bone neoplasm
is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:85182", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015959"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0007206
name: bone pain, periodic
synonym: "bone pain, periodic" EXACT [OMIM:112270]
xref: MEDGEN:350612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:112270 {source="MONDO:equivalentTo"}
xref: UMLS:C1862176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350612"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007207
name: Böök syndrome
def: "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." [Orphanet:1262]
subset: gard_rare {source="GARD:932", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1262"}
subset: ordo_malformation_syndrome {source="Orphanet:1262"}
subset: orphanet_rare {source="Orphanet:1262"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "book syndrome" EXACT [OMIM:112300]
synonym: "Böök syndrome" EXACT [Orphanet:1262]
synonym: "PHC syndrome" RELATED [OMIM:112300]
synonym: "premolar aplasia, hyperhidrosis, and canities prematura" RELATED [GARD:0000932]
xref: GARD:932 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1262/attributed", source="Orphanet:1262/ntbt", source="Orphanet:1262"}
xref: MEDGEN:99140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562993 {source="MONDO:equivalentTo"}
xref: OMIM:112300 {source="Orphanet:1262/e", source="MONDO:equivalentTo", source="Orphanet:1262"}
xref: Orphanet:1262 {source="MONDO:equivalentTo", source="OMIM:112300"}
xref: SCTID:722296002 {source="MONDO:equivalentTo"}
xref: UMLS:C0457014 {source="MONDO:equivalentTo", source="MEDGEN:99140", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:1262"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0007208
name: Boomerang dysplasia
def: "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." [Orphanet:1263]
subset: gard_rare {source="GARD:933", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1263"}
subset: orphanet_rare {source="Orphanet:1263"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Boomerang dysplasia" EXACT [OMIM:112310]
synonym: "Boomerang-like skeletal dysplasia" RELATED [GARD:0000933]
synonym: "dwarfism with short, bowed, rigid limbs and characteristic facies" RELATED [GARD:0000933]
xref: DOID:0050680 {source="MONDO:equivalentTo"}
xref: GARD:933 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1263", source="Orphanet:1263/attributed", source="Orphanet:1263/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536573 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e"}
xref: OMIM:112310 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e", source="DOID:0050680"}
xref: Orphanet:1263 {source="MONDO:equivalentTo", source="OMIM:112310"}
xref: SCTID:254054000 {source="MONDO:equivalentTo"}
xref: UMLS:C0432201 {source="MEDGEN:96579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="DOID:0050680", source="MESH:C536573"} ! osteochondrodysplasia
is_a: MONDO:0019690 {source="Orphanet:1263", source="PMID:31633310"} ! filamin-related bone disorder
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:1263", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia" xsd:anyURI {source="GARD:0000933"}

[Term]
id: MONDO:0007209
name: Weismann-Netter syndrome
def: "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated." [Orphanet:3344]
subset: gard_rare {source="GARD:5232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1843"}
subset: ordo_disorder {source="Orphanet:3344"}
subset: ordo_malformation_syndrome {source="Orphanet:3344"}
subset: orphanet_rare {source="Orphanet:3344"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior bowing of legs with dwarfism" EXACT [Orphanet:3344]
synonym: "bowing of legs, anterior with dwarfism" RELATED [GARD:0005232]
synonym: "bowing of legs, anterior, with dwarfism" RELATED [OMIM:112350]
synonym: "Toxopachyosteose Diaphysaire Tibio-Peroniere" RELATED [OMIM:112350]
synonym: "Weismann Netter Stuhl Syndrome" EXACT [NORD:1843]
synonym: "Weismann Netter syndrome" EXACT [GARD:0005232]
synonym: "WEISMANN-NETTER syndrome" EXACT [OMIM:112350]
synonym: "Weismann-Netter syndrome" EXACT [MONDO:Lexical, OMIM:112350]
synonym: "Weismann-Netter-Stuhl syndrome" EXACT [Orphanet:3344]
synonym: "WNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:112350]
xref: GARD:5232 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:3344/attributed", source="Orphanet:3344/ntbt", source="Orphanet:3344"}
xref: MEDGEN:350610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537082 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"}
xref: NORD:1843 {source="MONDO:NORD"}
xref: OMIM:112350 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"}
xref: Orphanet:3344 {source="OMIM:112350", source="MONDO:equivalentTo"}
xref: SCTID:715532007 {source="MONDO:equivalentTo"}
xref: UMLS:C1862172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350610"}
is_a: MONDO:0019698 {source="Orphanet:3344"} ! bent bone dysplasia

[Term]
id: MONDO:0007210
name: Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay
synonym: "Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" EXACT [OMIM:112370]
xref: MEDGEN:396307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566206 {source="MONDO:equivalentTo"}
xref: OMIM:112370 {source="MONDO:equivalentTo"}
xref: UMLS:C1862171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396307"}
is_a: MONDO:0003847 {source="MESH:C566206/inferred"} ! hereditary disease

[Term]
id: MONDO:0007211
name: brachydactyly-arterial hypertension syndrome
def: "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." [Orphanet:1276]
subset: gard_rare {source="GARD:967", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1276"}
subset: ordo_malformation_syndrome {source="Orphanet:1276"}
subset: orphanet_rare {source="Orphanet:1276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bilginturan brachydactyly" EXACT [Orphanet:1276]
synonym: "Bilginturan syndrome" EXACT [OMIM:112410, Orphanet:1276]
synonym: "brachydactyly type E with short stature and hypertension" RELATED [GARD:0000967]
synonym: "brachydactyly type E, with short stature and hypertension" EXACT [Orphanet:1276]
synonym: "brachydactyly with hypertension" RELATED [OMIM:112410]
synonym: "brachydactyly, type E, with short stature and hypertension" RELATED [OMIM:112410]
synonym: "HTNB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112410]
synonym: "hypertension and brachydactyly syndrome" RELATED [MONDO:Lexical, OMIM:112410]
xref: DOID:0111247 {source="MONDO:equivalentTo"}
xref: GARD:967 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:1276/attributed", source="Orphanet:1276/ntbt", source="Orphanet:1276"}
xref: MEDGEN:349445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537095 {source="MONDO:equivalentTo"}
xref: OMIM:112410 {source="Orphanet:1276", source="MONDO:equivalentTo", source="Orphanet:1276/e"}
xref: Orphanet:1276 {source="MONDO:equivalentTo", source="OMIM:112410"}
xref: SCTID:720568003 {source="MONDO:equivalentTo"}
xref: UMLS:C1862170 {source="MEDGEN:349445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:31549136", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0021004 {source="PMID:31549136", source="https://orcid.org/0009-0001-6494-4831"} ! brachydactyly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8778 {source="MONDO:mim2gene_medgen"} ! PDE3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007212
name: brachydactyly-long thumb syndrome
def: "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." [Orphanet:2946]
subset: gard_rare {source="GARD:968", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2946"}
subset: ordo_malformation_syndrome {source="Orphanet:2946"}
subset: orphanet_rare {source="Orphanet:2946"}
subset: rare
synonym: "brachydactyly long thumb type" RELATED [GARD:0000968]
synonym: "brachydactyly, long thumb type" EXACT [Orphanet:2946]
synonym: "brachydactyly, long-thumb type" RELATED [OMIM:112430]
synonym: "long-thumb brachydactyly syndrome" RELATED [GARD:0000968, OMIM:112430]
xref: GARD:968 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2946", source="Orphanet:2946/attributed", source="Orphanet:2946/ntbt"}
xref: MEDGEN:350609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566204 {source="MONDO:equivalentTo"}
xref: OMIM:112430 {source="Orphanet:2946/e", source="MONDO:equivalentTo", source="Orphanet:2946", source="GARD:0000968"}
xref: Orphanet:2946 {source="MONDO:equivalentTo", source="OMIM:112430", source="GARD:0000968"}
xref: SCTID:733454004 {source="MONDO:equivalentTo"}
xref: UMLS:C1862169 {source="MONDO:equivalentTo", source="MEDGEN:350609", source="MONDO:MEDGEN"}
is_a: MONDO:0016432 {source="Orphanet:2946"} ! heart-hand syndrome
is_a: MONDO:0019054 ! congenital limb malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type" xsd:anyURI {source="GARD:0000968"}

[Term]
id: MONDO:0007213
name: Ballard syndrome
def: "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature." [Orphanet:93395]
subset: ordo_malformation_syndrome {source="Orphanet:93395"}
synonym: "Ballard type brachydactyly" EXACT [DOID:0110963]
synonym: "brachydactyly Ballard type" RELATED [GARD:0000959]
synonym: "brachydactyly combined B and E types" RELATED [GARD:0000959]
synonym: "brachydactyly types B and E combined" EXACT [DOID:0110963, Orphanet:93395]
synonym: "brachydactyly, Ballard type" RELATED [OMIM:112440]
synonym: "brachydactyly, combined B and E types" RELATED [OMIM:112440]
synonym: "Pitt Williams brachydactyly" RELATED [GARD:0000959]
synonym: "Pitt-Williams brachydactyly" EXACT [DOID:0110963, OMIM:112440, Orphanet:93395]
xref: DOID:0110963 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q73.8 {source="DOID:0110963", source="Orphanet:93395", source="Orphanet:93395/attributed", source="Orphanet:93395/ntbt"}
xref: MEDGEN:349443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537094 {source="MONDO:equivalentTo"}
xref: OMIM:112440 {source="DOID:0110963", source="Orphanet:93395", source="MONDO:equivalentTo", source="Orphanet:93395/e"}
xref: Orphanet:93395 {source="DOID:0110963", source="MONDO:equivalentObsolete", source="OMIM:112440"}
xref: SCTID:722298001 {source="MONDO:equivalentTo"}
xref: UMLS:C1862163 {source="MEDGEN:349443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="DOID:0110963"} ! brachydactyly

[Term]
id: MONDO:0007214
name: brachydactyly-preaxial hallux varus syndrome
def: "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits." [Orphanet:1278]
subset: gard_rare {source="GARD:972", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1278"}
subset: ordo_malformation_syndrome {source="Orphanet:1278"}
subset: orphanet_rare {source="Orphanet:1278"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly preaxial with hallux varus and thumb abduction" RELATED [GARD:0000972]
synonym: "brachydactyly, preaxial, with hallux varus and thumb abduction" RELATED [OMIM:112450]
synonym: "Christian brachydactyly" EXACT [DOID:0110962, OMIM:112450]
synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" RELATED [GARD:0000972]
synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [DOID:0110962]
xref: DOID:0110962 {source="MONDO:equivalentTo"}
xref: GARD:972 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:1278/attributed", source="Orphanet:1278/ntbt", source="DOID:0110962", source="Orphanet:1278"}
xref: MEDGEN:349442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537087 {source="MONDO:equivalentTo"}
xref: OMIM:112450 {source="DOID:0110962", source="Orphanet:1278", source="MONDO:equivalentTo", source="Orphanet:1278/e"}
xref: Orphanet:1278 {source="DOID:0110962", source="OMIM:112450", source="MONDO:equivalentTo"}
xref: UMLS:C1862162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349442"}
is_a: MONDO:0019054 {source="Orphanet:1278", source="Orphanet:1278/inferred"} ! congenital limb malformation

[Term]
id: MONDO:0007215
name: brachydactyly type A1
def: "Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges." [Orphanet:93388]
subset: gard_rare {source="GARD:978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93388"}
subset: ordo_malformation_syndrome {source="Orphanet:93388"}
subset: orphanet_rare {source="Orphanet:93388"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDA1" EXACT ABBREVIATION [DOID:0110964, MONDO:Lexical, OMIM:112500]
synonym: "brachydactyly Farabee type" RELATED [GARD:0000978]
synonym: "brachydactyly, Farabee type" EXACT [Orphanet:93388]
synonym: "brachydactyly, type A1" RELATED [MONDO:Lexical, OMIM:112500]
synonym: "Farabee type brachydactyly" EXACT [DOID:0110964]
synonym: "Farabee-type brachydactyly" RELATED [OMIM:112500]
xref: DOID:0110964 {source="MONDO:equivalentTo"}
xref: GARD:978 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:93388/attributed", source="Orphanet:93388/ntbt", source="Orphanet:93388"}
xref: MEDGEN:354673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537088 {source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"}
xref: OMIM:112500 {source="DOID:0110964", source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"}
xref: Orphanet:93388 {source="DOID:0110964", source="MONDO:equivalentTo", source="OMIM:112500"}
xref: SCTID:715720006 {source="MONDO:equivalentTo"}
xref: UMLS:C1862151 {source="MEDGEN:354673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1" xsd:anyURI {source="GARD:0000978"}

[Term]
id: MONDO:0007216
name: brachydactyly type A2
def: "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." [Orphanet:93396]
subset: gard_rare {source="GARD:979", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93396"}
subset: ordo_malformation_syndrome {source="Orphanet:93396"}
subset: orphanet_rare {source="Orphanet:93396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDA2" EXACT ABBREVIATION [DOID:0110965, MONDO:Lexical, OMIM:112600]
synonym: "brachydactyly, Mohr-Wriedt type" EXACT [Orphanet:93396]
synonym: "brachydactyly, type A2" RELATED [MONDO:Lexical, OMIM:112600]
synonym: "Brachymesophalangy 2" RELATED [OMIM:112600]
synonym: "brachymesophalangy II" EXACT [DOID:0110965]
synonym: "Brachymesophalangy type 2" RELATED [GARD:0000989]
synonym: "Mohr-Wriedt type brachydactyly" EXACT [DOID:0110965, OMIM:112600]
xref: DOID:0110965 {source="MONDO:equivalentTo"}
xref: GARD:979 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="DOID:0110965", source="Orphanet:93396/attributed", source="Orphanet:93396/ntbt", source="Orphanet:93396"}
xref: MEDGEN:318690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537089 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"}
xref: OMIM:112600 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"}
xref: Orphanet:93396 {source="DOID:0110965", source="MONDO:equivalentTo", source="OMIM:112600"}
xref: SCTID:720569006 {source="MONDO:equivalentTo"}
xref: UMLS:C1832702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318690"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2" xsd:anyURI {source="GARD:0000979"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2" xsd:anyURI {source="GARD:0000989"}

[Term]
id: MONDO:0007217
name: brachydactyly type A3
subset: gard_rare {source="GARD:963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDA3" EXACT ABBREVIATION [DOID:0110966, MONDO:Lexical, OMIM:112700]
synonym: "brachydactyly, type A3" RELATED [MONDO:Lexical, OMIM:112700]
synonym: "brachydactyly-clinodactyly" EXACT [DOID:0110966, OMIM:112700, Orphanet:93393]
synonym: "Brachymesophalangy 5" RELATED [OMIM:112700]
synonym: "brachymesophalangy V" EXACT [DOID:0110966, Orphanet:93393]
xref: DOID:0110966 {source="MONDO:equivalentTo"}
xref: GARD:963 {source="MONDO:GARD"}
xref: MEDGEN:354670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537090 {source="MONDO:equivalentTo"}
xref: OMIM:112700 {source="DOID:0110966", source="MONDO:equivalentTo"}
xref: Orphanet:93393 {source="MONDO:equivalentObsolete", source="OMIM:112700"}
xref: UMLS:C1862140 {source="MEDGEN:354670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3" xsd:anyURI {source="GARD:0000963"}

[Term]
id: MONDO:0007218
name: brachydactyly type A4
def: "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit." [Orphanet:93394]
subset: gard_rare {source="GARD:990", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93394"}
subset: ordo_malformation_syndrome {source="Orphanet:93394"}
subset: orphanet_rare {source="Orphanet:93394"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDA4" EXACT ABBREVIATION [DOID:0110967, MONDO:Lexical, OMIM:112800]
synonym: "brachydactyly Temtamy type" RELATED [GARD:0000990]
synonym: "brachydactyly, Temtamy type" EXACT [Orphanet:93394]
synonym: "brachydactyly, type A4" RELATED [MONDO:Lexical, OMIM:112800]
synonym: "Brachymesophalangy 2 and 5" RELATED [OMIM:112800]
synonym: "Brachymesophalangy II and V" EXACT [Orphanet:93394]
synonym: "brachymesophalangy II and V" EXACT [DOID:0110967]
synonym: "Temtamy type brachydactyly" EXACT [DOID:0110967, OMIM:112800]
xref: DOID:0110967 {source="MONDO:equivalentTo"}
xref: GARD:990 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:93394", source="DOID:0110967", source="Orphanet:93394/attributed", source="Orphanet:93394/ntbt"}
xref: MEDGEN:354669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537097 {source="MONDO:equivalentTo"}
xref: OMIM:112800 {source="Orphanet:93394", source="DOID:0110967", source="MONDO:equivalentTo", source="Orphanet:93394/e"}
xref: Orphanet:93394 {source="DOID:0110967", source="MONDO:equivalentTo", source="OMIM:112800"}
xref: SCTID:715721005 {source="MONDO:equivalentTo"}
xref: UMLS:C1862139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354669"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4" xsd:anyURI {source="GARD:0000990"}

[Term]
id: MONDO:0007219
name: Osebold-Remondini syndrome
def: "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." [https://orcid.org/0000-0001-5208-3432, Orphanet:93382]
subset: gard_rare {source="GARD:983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93382"}
subset: ordo_malformation_syndrome {source="Orphanet:93382"}
subset: orphanet_rare {source="Orphanet:93382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDA6" EXACT ABBREVIATION [DOID:0110968]
synonym: "brachydactyly type A6" EXACT [OMIM:112910]
synonym: "brachydactyly, type A6" EXACT [OMIM:112910]
synonym: "Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" RELATED [OMIM:112910]
synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT [DOID:0110968]
synonym: "OSEBOLD-Remondini syndrome" RELATED [OMIM:112910]
synonym: "Osebold-Remondini syndrome" EXACT [DOID:0110968, Orphanet:93382]
xref: DOID:0110968 {source="MONDO:equivalentTo"}
xref: GARD:983 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="DOID:0110968", source="Orphanet:93382/attributed", source="Orphanet:93382/ntbt", source="Orphanet:93382"}
xref: MEDGEN:350598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537092 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="Orphanet:93382"}
xref: OMIM:112910 {source="Orphanet:93382/e", source="MONDO:equivalentTo", source="DOID:0110968", source="Orphanet:93382"}
xref: Orphanet:93382 {source="MONDO:equivalentTo", source="DOID:0110968", source="OMIM:112910"}
xref: SCTID:715722003 {source="MONDO:equivalentTo"}
xref: UMLS:C1862130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350598"}
is_a: MONDO:0019696 {source="Orphanet:93382", source="PMID:31633310"} ! acromesomelic dysplasia
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6" xsd:anyURI {source="GARD:0000983"}

[Term]
id: MONDO:0007220
name: brachydactyly type B1
def: "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18009", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:572385"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDB1" EXACT ABBREVIATION [DOID:0110969, MONDO:Lexical, OMIM:113000]
synonym: "brachydactyly type B caused by mutation in ROR2" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type B" RELATED [OMIM:113000]
synonym: "brachydactyly, type B1" RELATED [MONDO:Lexical, OMIM:113000]
synonym: "ROR2 brachydactyly type B" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110969 {source="MONDO:equivalentTo"}
xref: GARD:18009 {source="MONDO:GARD"}
xref: MEDGEN:349432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566196 {source="MONDO:equivalentTo"}
xref: OMIM:113000 {source="DOID:0110969", source="MONDO:equivalentTo"}
xref: Orphanet:572385 {source="MONDO:equivalentTo"}
xref: Orphanet:93383 {source="OMIM:113000"}
xref: UMLS:C1862112 {source="MEDGEN:349432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019676 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! brachydactyly type B
intersection_of: MONDO:0019676 ! brachydactyly type B
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10257 ! ROR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10257 {source="MONDO:mim2gene_medgen"} ! ROR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007221
name: brachydactyly type C
subset: gard_rare {source="GARD:986", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93384"}
subset: ordo_malformation_syndrome {source="Orphanet:93384"}
subset: orphanet_rare {source="Orphanet:93384"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDC" RELATED EXCLUDE [DOID:0110970, MONDO:Lexical, OMIM:113100]
synonym: "brachydactyly Haws type" RELATED [GARD:0000986]
synonym: "brachydactyly type C" EXACT CLINGEN_LABEL []
synonym: "brachydactyly, Haws type" RELATED [OMIM:113100]
synonym: "brachydactyly, type C" RELATED [MONDO:Lexical, OMIM:113100]
xref: DOID:0110970 {source="MONDO:equivalentTo"}
xref: GARD:986 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:93384", source="Orphanet:93384/attributed", source="Orphanet:93384/ntbt", source="DOID:0110970"}
xref: MEDGEN:350590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537093 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"}
xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"}
xref: Orphanet:93384 {source="OMIM:113100", source="MONDO:equivalentTo", source="DOID:0110970"}
xref: UMLS:C1862103 {source="MEDGEN:350590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007222
name: brachydactyly type D
def: "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1." [DOID:0110971, PMID:12649808]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDD" EXACT ABBREVIATION [DOID:0110971, MONDO:Lexical, OMIM:113200]
synonym: "brachydactyly, type D" RELATED [MONDO:Lexical, OMIM:113200]
synonym: "stub thumb" RELATED [OMIM:113200]
xref: DOID:0110971 {source="MONDO:equivalentTo"}
xref: MEDGEN:66313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562420 {source="MONDO:equivalentTo"}
xref: OMIM:113200 {source="MONDO:equivalentTo", source="DOID:0110971"}
xref: Orphanet:93385 {source="MONDO:equivalentObsolete", source="OMIM:113200"}
xref: UMLS:C0220664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66313"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007223
name: brachydactyly type E1
def: "Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDE1" EXACT ABBREVIATION [DOID:0110972, MONDO:Lexical, OMIM:113300]
synonym: "brachydactyly type E caused by mutation in HOXD13" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type E" RELATED [OMIM:113300]
synonym: "brachydactyly, type E1" RELATED [MONDO:Lexical, OMIM:113300]
synonym: "HOXD13 brachydactyly type E" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110972 {source="MONDO:equivalentTo"}
xref: MEDGEN:396291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566194 {source="MONDO:equivalentTo"}
xref: OMIM:113300 {source="MONDO:equivalentTo", source="DOID:0110972"}
xref: Orphanet:93387 {source="OMIM:113300"}
xref: UMLS:C1862102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396291"}
intersection_of: MONDO:0019677 ! brachydactyly type E
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 ! HOXD13
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007224
name: brachydactyly, type E, with atrial septal defect, type 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brachydactyly, type E, with atrial septal defect, type II" RELATED [OMIM:113301]
xref: MEDGEN:354662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566193 {source="MONDO:equivalentTo"}
xref: OMIM:113301 {source="MONDO:equivalentTo"}
xref: UMLS:C1862101 {source="MEDGEN:354662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019677 ! brachydactyly type E

[Term]
id: MONDO:0007225
name: fibular aplasia-ectrodactyly syndrome
def: "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." [Orphanet:1118]
subset: gard_rare {source="GARD:2331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1118"}
subset: ordo_malformation_syndrome {source="Orphanet:1118"}
subset: orphanet_rare {source="Orphanet:1118"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" RELATED [OMIM:113310]
synonym: "fibular aplasia ectrodactyly" RELATED [GARD:0002331]
xref: GARD:2331 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:1118", source="Orphanet:1118/attributed", source="Orphanet:1118/ntbt"}
xref: MEDGEN:396290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537930 {source="MONDO:equivalentTo", source="Orphanet:1118", source="Orphanet:1118/e"}
xref: OMIM:113310 {source="MONDO:equivalentTo", source="Orphanet:1118", source="Orphanet:1118/e"}
xref: Orphanet:1118 {source="MONDO:equivalentTo", source="OMIM:113310"}
xref: UMLS:C1862100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396290"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:16473314", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:16473314", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007226
name: brachydactyly-nystagmus-cerebellar ataxia syndrome
def: "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." [Orphanet:1246]
comment: Editor note: check GARD
subset: gard_rare {source="GARD:971", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1246"}
subset: ordo_malformation_syndrome {source="Orphanet:1246"}
subset: orphanet_rare {source="Orphanet:1246"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Biemond syndrome" EXACT [Orphanet:1246]
synonym: "Biemond syndrome type 1" RELATED [GARD:0000881]
synonym: "brachydactyly - nystagmus - cerebellar ataxia" RELATED [GARD:0000971]
synonym: "brachydactyly, nystagmus and cerebellar ataxia" RELATED [GARD:0000971]
synonym: "brachydactyly-NYSTAGMUS-cerebellar ataxia" RELATED [OMIM:113400]
xref: GARD:971 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1246/attributed", source="Orphanet:1246/ntbt", source="Orphanet:1246"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:350589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566192 {source="MONDO:equivalentTo"}
xref: OMIM:113400 {source="Orphanet:1246", source="MONDO:equivalentTo", source="Orphanet:1246/e"}
xref: Orphanet:1246 {source="MONDO:equivalentTo", source="OMIM:113400"}
xref: SCTID:205828009 {source="MONDO:equivalentTo"}
xref: UMLS:C1862099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350589"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1246"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/881/biemond-syndrome-type-1" xsd:anyURI {source="GARD:0000881"}

[Term]
id: MONDO:0007227
name: Sillence syndrome
def: "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." [Orphanet:3168]
subset: gard_rare {source="GARD:4869", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3168"}
subset: ordo_malformation_syndrome {source="Orphanet:3168"}
subset: orphanet_rare {source="Orphanet:3168"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly-distal symphalangism syndrome" RELATED [GARD:0004869, OMIM:113450]
synonym: "brachydactyly-symphalangism syndrome" EXACT [Orphanet:3168]
xref: GARD:4869 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:3168/attributed", source="Orphanet:3168/ntbt", source="Orphanet:3168"}
xref: MEDGEN:354659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537338 {source="Orphanet:3168", source="MONDO:equivalentTo", source="Orphanet:3168/e"}
xref: OMIM:113450 {source="Orphanet:3168", source="MONDO:equivalentTo", source="Orphanet:3168/e"}
xref: Orphanet:3168 {source="OMIM:113450", source="MONDO:equivalentTo"}
xref: SCTID:732956000 {source="MONDO:equivalentTo"}
xref: UMLS:C1862092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354659"}
is_a: MONDO:0002254 {source="Orphanet:3168"} ! syndromic disease

[Term]
id: MONDO:0007228
name: brachymesomelia-renal syndrome
synonym: "brachymesomelia renal syndrome" RELATED [GARD:0000988]
synonym: "brachymesomelia-renal syndrome" EXACT [OMIM:113470]
synonym: "severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities" RELATED [GARD:0000988]
xref: MEDGEN:350586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537096 {source="MONDO:equivalentTo"}
xref: OMIM:113470 {source="MONDO:equivalentTo", source="GARD:0000988"}
xref: UMLS:C1862084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350586"}
is_a: MONDO:0003847 {source="MESH:C537096/inferred"} ! hereditary disease

[Term]
id: MONDO:0007229
name: Brachymetatarsus 4
synonym: "BRACHYMETATARSUS IV" RELATED [OMIM:113475]
synonym: "Brachymetatarsus type 4" EXACT [MONDORULE:1, OMIM:113475]
synonym: "metatarsus IV, short" RELATED [OMIM:113475]
synonym: "toe, fourth, short" RELATED [OMIM:113475]
xref: MEDGEN:396286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:113475 {source="MONDO:equivalentTo"}
xref: UMLS:C1862083 {source="MEDGEN:396286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007230
name: Brachymorphism-onychodysplasia-dysphalangism syndrome
def: "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." [Orphanet:1292]
subset: gard_rare {source="GARD:918", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1292"}
subset: ordo_malformation_syndrome {source="Orphanet:1292"}
subset: orphanet_rare {source="Orphanet:1292"}
subset: rare
synonym: "bod syndrome" EXACT [OMIM:113477, Orphanet:1292]
synonym: "Brachymorphism onychodysplasia dysphalangism syndrome" RELATED [GARD:0000918]
synonym: "Brachymorphism-onychodysplasia-dysphalangism syndrome" EXACT [OMIM:113477]
synonym: "Senior syndrome" EXACT [Orphanet:1292]
xref: GARD:918 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1292/attributed", source="Orphanet:1292/ntbt", source="Orphanet:1292"}
xref: MEDGEN:350585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536242 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="Orphanet:1292"}
xref: OMIM:113477 {source="Orphanet:1292/e", source="MONDO:equivalentTo", source="Orphanet:1292"}
xref: Orphanet:1292 {source="MONDO:equivalentTo", source="OMIM:113477"}
xref: SCTID:720573009 {source="MONDO:equivalentTo"}
xref: UMLS:C1862082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350585"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015160 {source="Orphanet:1292"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007231
name: brachytelephalangy-dysmorphism-Kallmann syndrome
def: "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." [Orphanet:1295]
subset: gard_rare {source="GARD:16562", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1295"}
subset: ordo_malformation_syndrome {source="Orphanet:1295"}
subset: orphanet_rare {source="Orphanet:1295"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" RELATED [OMIM:113480]
xref: GARD:16562 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1295/attributed", source="Orphanet:1295/ntbt", source="Orphanet:1295"}
xref: MEDGEN:444052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537101 {source="MONDO:equivalentTo"}
xref: OMIM:113480 {source="Orphanet:1295/e", source="MONDO:equivalentTo", source="Orphanet:1295"}
xref: Orphanet:1295 {source="OMIM:113480", source="MONDO:equivalentTo"}
xref: UMLS:C2931421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444052"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1295"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-5002-8648"} ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0007232
name: autosomal dominant brachyolmia
def: "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." [Orphanet:93304]
subset: gard_rare {source="GARD:10429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93304"}
subset: ordo_malformation_syndrome {source="Orphanet:93304"}
subset: orphanet_rare {source="Orphanet:93304"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCYM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113500]
synonym: "brachyolmia autosomal dominant" RELATED [GARD:0010429]
synonym: "brachyolmia type 3" EXACT [MONDO:Lexical, OMIM:113500, Orphanet:93304]
synonym: "brachyolmia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:113500]
synonym: "brachyrachia" RELATED [OMIM:113500]
xref: GARD:10429 {source="MONDO:GARD"}
xref: ICD10CM:Q76.3 {source="Orphanet:93304", source="Orphanet:93304/attributed", source="Orphanet:93304/ntbt"}
xref: MEDGEN:96583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:113500 {source="MONDO:equivalentTo", source="Orphanet:93304", source="Orphanet:93304/e"}
xref: Orphanet:93304 {source="MONDO:equivalentTo", source="OMIM:113500"}
xref: SCTID:717264003 {source="MONDO:equivalentTo"}
xref: UMLS:C0432227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96583"}
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015262 {source="DC-OMIM:113500", source="MONDO:Redundant", source="Orphanet:93304"} ! brachyolmia
is_a: MONDO:0018240 {source="Orphanet:93304", source="PMID:31633310"} ! TRPV4-related bone disorder
intersection_of: MONDO:0015262 ! brachyolmia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:113500", source="Orphanet:93304"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007233
name: second branchial cleft anomaly
def: "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck." [NCIT:C104813]
subset: gard_rare {source="GARD:16968", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141022"}
subset: ordo_morphological_anomaly {source="Orphanet:141022"}
subset: orphanet_rare {source="Orphanet:141022"}
subset: rare
synonym: "branchial cleft" EXACT [NCIT:C104813]
synonym: "branchial cleft anomalies" RELATED [OMIM:113600]
synonym: "branchial cleft remnant" EXACT [NCIT:C104813]
synonym: "branchial cysts" RELATED [OMIM:113600]
synonym: "second branchial cleft cyst" EXACT [Orphanet:141022]
synonym: "second branchial cleft fistula" EXACT [Orphanet:141022]
xref: GARD:16968 {source="MONDO:GARD"}
xref: ICD10CM:Q18.0 {source="Orphanet:141022/ntbt", source="Orphanet:141022"}
xref: MEDGEN:840602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C104813 {source="MONDO:equivalentTo"}
xref: OMIM:113600 {source="Orphanet:141022", source="MONDO:equivalentTo", source="Orphanet:141022/e"}
xref: Orphanet:141022 {source="MONDO:equivalentTo", source="OMIM:113600"}
xref: SCTID:73381000119100 {source="MONDO:equivalentTo"}
xref: UMLS:C3874315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:840602"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015476 {source="Orphanet:141022"} ! cysts and fistulae of the face and oral cavity

[Term]
id: MONDO:0007234
name: branchial myoclonus with spastic paraparesis and cerebellar ataxia
synonym: "branchial myoclonus with spastic paraparesis and cerebellar ataxia" EXACT [OMIM:113610]
xref: MEDGEN:349424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566188 {source="MONDO:equivalentTo"}
xref: OMIM:113610 {source="MONDO:equivalentTo"}
xref: UMLS:C1862071 {source="MEDGEN:349424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007235
name: branchiooculofacial syndrome
def: "Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." [Orphanet:1297]
subset: gard_rare {source="GARD:3212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:871"}
subset: ordo_disorder {source="Orphanet:1297"}
subset: ordo_malformation_syndrome {source="Orphanet:1297"}
subset: orphanet_rare {source="Orphanet:1297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bof syndrome" EXACT [OMIM:113620]
synonym: "BOFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113620, Orphanet:1297]
synonym: "BOFS syndrome" EXACT [GARD:0003212]
synonym: "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing" EXACT OMO:0003005 []
synonym: "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging" EXACT [GARD:0003212]
synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing" EXACT OMO:0003005 []
synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging" EXACT [OMIM:113620]
synonym: "Branchio Oculo Facial Syndrome" EXACT [NORD:871]
synonym: "branchio-oculo-facial syndrome" EXACT [Orphanet:1297]
synonym: "branchiooculofacial syndrome" EXACT [MONDO:Lexical, OMIM:113620]
synonym: "hemangiomatous branchial clefts-Lip Pseudocleft syndrome" EXACT [OMIM:113620]
synonym: "lip Pseudocleft-Hemangiomatous branchial cyst syndrome" EXACT [OMIM:113620]
xref: DOID:0050691 {source="MONDO:equivalentTo"}
xref: GARD:3212 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:1297", source="Orphanet:1297/attributed", source="Orphanet:1297/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:871 {source="MONDO:NORD"}
xref: OMIM:113620 {source="Orphanet:1297", source="MONDO:equivalentTo", source="Orphanet:1297/e", source="DOID:0050691"}
xref: Orphanet:1297 {source="MONDO:equivalentTo", source="OMIM:113620"}
xref: SCTID:449821007 {source="MONDO:equivalentTo"}
xref: UMLS:C0376524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91261"}
is_a: MONDO:0000426 {source="DOID:0050691", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015161 {source="Orphanet:1297"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:113620", source="Orphanet:1297"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11742 {source="MONDO:mim2gene_medgen"} ! TFAP2A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome" xsd:anyURI {source="GARD:0003212"}

[Term]
id: MONDO:0007236
name: branchiootorenal syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BOR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113650]
synonym: "branchiootorenal dysplasia" RELATED [OMIM:113650]
synonym: "branchiootorenal syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:113650]
synonym: "branchiootorenal syndrome 1, with or without cataracts" EXACT [OMIM:113650, OMIM:genemap2]
synonym: "branchiootorenal syndrome type 1" EXACT [MONDORULE:1, OMIM:113650]
synonym: "Melnick-Fraser syndrome" RELATED [OMIM:113650]
xref: DOID:0111423 {source="MONDO:equivalentTo"}
xref: MEDGEN:1632634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:113650 {source="MONDO:equivalentTo"}
xref: Orphanet:107 {source="OMIM:113650"}
xref: UMLS:C4551702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632634"}
is_a: MONDO:0007029 {source="DC-OMIM:113650"} ! branchio-oto-renal syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:113650"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007237
name: familial juvenile hypertrophy of the breast
def: "Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal." [Orphanet:180176]
subset: gard_rare {source="GARD:9450", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180176"}
subset: ordo_morphological_anomaly {source="Orphanet:180176"}
subset: orphanet_rare {source="Orphanet:180176"}
subset: rare
synonym: "familial juvenile gigantomastia" EXACT [Orphanet:180176]
synonym: "gigantomastia, juvenile" RELATED [OMIM:113670]
synonym: "hypertrophy of the breast, juvenile" RELATED [MONDO:Lexical, OMIM:113670]
synonym: "JHB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113670]
synonym: "juvenile gigantomastia" EXACT [Wikipedia:Breast_hypertrophy]
synonym: "juvenile macromastia" EXACT [Wikipedia:Breast_hypertrophy]
synonym: "virginal breast hypertrophy" EXACT [Orphanet:180176, Wikipedia:Breast_hypertrophy]
synonym: "virginal mammary hypertrophy" EXACT [Wikipedia:Breast_hypertrophy]
xref: GARD:9450 {source="MONDO:GARD"}
xref: ICD10CM:N62 {source="MONDO:relatedTo", source="Orphanet:180176", source="Orphanet:180176/ntbt"}
xref: MEDGEN:140798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536821 {source="MONDO:equivalentTo"}
xref: OMIM:113670 {source="MONDO:equivalentTo", source="Orphanet:180176", source="Orphanet:180176/e"}
xref: Orphanet:180176 {source="OMIM:113670", source="MONDO:equivalentTo"}
xref: UMLS:C0405471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140798"}
is_a: MONDO:0002657 {source="https://orcid.org/0000-0001-5208-3432"} ! breast disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007238
name: amastia
def: "Absence of one or both mammary glands." [NCIT:C118459]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "absent breasts and nipples" RELATED [GARD:0009489]
synonym: "amastia" EXACT [GARD:0009489]
synonym: "amazia" RELATED [OMIM:113700]
synonym: "athelia" RELATED [MESH:C535565, OMIM:113700]
synonym: "BNAH1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:113700]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, 1" RELATED [MONDO:Lexical, OMIM:113700]
synonym: "complete absence of breasts" RELATED [GARD:0009489, MESH:C535565]
xref: MESH:C535565 {source="MONDO:equivalentTo"}
xref: NCIT:C118459 {source="MONDO:equivalentTo"}
xref: Orphanet:180188 {source="OMIM:113700"}
xref: SCTID:75474006 {source="MONDO:equivalentTo"}
is_a: MONDO:0015855 {source="OMIM:113700", source="Orphanet:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4449" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9489/absent-breasts-and-nipples" xsd:anyURI {source="GARD:0009489"}

[Term]
id: MONDO:0007239
name: epidermolytic ichthyosis
def: "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." [Orphanet:312]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1100"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant epidermolytic ichthyosis" NARROW [Orphanet:312]
synonym: "BCIE" EXACT ABBREVIATION [Orphanet:312]
synonym: "bullous congenital ichthyosiform erythroderma" EXACT [DOID:4603, OMIM:113800, Orphanet:312]
synonym: "bullous congenital ichthyosiform erythroderma of Brock" EXACT [Orphanet:312]
synonym: "bullous erythroderma Ichthyosiformis congenita of Brocq" RELATED [OMIM:113800]
synonym: "bullous ichthyosiform erythroderma" RELATED [OMIM:113800]
synonym: "bullous ichthyosiform erythroderma congenita" RELATED [GARD:0001039]
synonym: "bullous ichthyosis" EXACT [Orphanet:312]
synonym: "congenital bullous ichthyosiform erythroderma" RELATED [GARD:0001039]
synonym: "EHK" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113800, Orphanet:312]
synonym: "EI" EXACT ABBREVIATION [Orphanet:312]
synonym: "epidermolytic hyperkeratosis" EXACT [MONDO:0957316]
synonym: "epidermolytic ichthyosis" EXACT [OMIM:113800, PMID:20643494]
synonym: "epidermolytic palmoplantar hyperkeratosis" EXACT [DOID:4603]
synonym: "ichthyosis hystrix Brocq type" EXACT [Orphanet:312]
xref: DOID:4603 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q80.3 {source="Orphanet:312", source="Orphanet:312/e", source="DOID:4603", source="Orphanet:312/specific"}
xref: MEDGEN:38179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017488 {source="MONDO:equivalentTo", source="DOID:4603"}
xref: NORD:1100 {source="MONDO:NORD"}
xref: OMIMPS:113800 {source="MONDO:equivalentTo"}
xref: SCTID:20512000 {source="DOID:4603"}
xref: SCTID:239071005 {source="DOID:4603"}
xref: SCTID:254167000 {source="MONDO:equivalentTo", source="DOID:4603"}
xref: UMLS:C0079153 {source="MEDGEN:38179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:113800"} ! hereditary disease
is_a: MONDO:0017266 {source="Orphanet:281103", source="Orphanet:312", source="https://orcid.org/0000-0002-4142-7153"} ! keratinopathic ichthyosis
is_a: MONDO:0045011 {source="OMIMPS:113800"} ! keratinization disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:113800"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI

[Term]
id: MONDO:0007240
name: progressive familial heart block, type 1A
def: "An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block." [NCIT:C126651]
comment: Editor note: consider separating acquired and inherited
subset: gard_rare {source="GARD:1093", source="MONDO:GARD"}
subset: rare
synonym: "bundle branch block" RELATED EXCLUDE [OMIM:113900]
synonym: "Cardiac conduction defect, nonprogressive" RELATED [OMIM:113900]
synonym: "Cardiac conduction defect, progressive" RELATED [OMIM:113900]
synonym: "heart block progressive familial type 1" RELATED [GARD:0001093]
synonym: "heart block, nonprogressive" RELATED [OMIM:113900]
synonym: "heart block, progressive familial, type 1" RELATED [OMIM:113900]
synonym: "heart block, progressive, type IA" EXACT [OMIM:113900, OMIM:genemap2]
synonym: "hereditary bundle branch system defect" RELATED [OMIM:113900]
synonym: "Lenegre disease" RELATED [Wikipedia:Lev%27s_disease]
synonym: "Lenegre's disease" EXACT [Wikipedia:Lev%27s_disease]
synonym: "Lenegre's syndrome" RELATED [Wikipedia:Lev%27s_disease]
synonym: "Lenegre-Lev disease" RELATED [OMIM:113900]
synonym: "Lev disease" RELATED [Wikipedia:Lev%27s_disease]
synonym: "PFHB1A" EXACT ABBREVIATION [DOID:0111074, GARD:0001093, MONDO:Lexical, OMIM:113900]
synonym: "progressive familial heart block caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "progressive familial heart block type 1A" RELATED [GARD:0001093]
synonym: "progressive familial heart block type IA" RELATED [DOID:0111074]
synonym: "progressive familial heart block, type IA" EXACT [MONDO:Lexical, OMIM:113900]
synonym: "SCN5A progressive familial heart block" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111074 {source="MONDO:equivalentTo"}
xref: GARD:1093 {source="MONDO:GARD"}
xref: MEDGEN:406301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002037 {source="EFO:0004138", source="MONDO:equivalentTo"}
xref: NCIT:C126651 {source="MONDO:equivalentTo"}
xref: OMIM:113900 {source="EFO:0004138", source="DOID:0111074", source="MONDO:equivalentTo", source="GARD:0001093"}
xref: Orphanet:871 {source="GARD:0001093", source="OMIM:113900"}
xref: SCTID:6374002 {source="EFO:0004138"}
xref: UMLS:C1879286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:406301"}
is_a: MONDO:0005449 {source="EFO:0004138"} ! conduction system disorder
is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C126651"} ! cardiac rhythm disease
is_a: MONDO:0019490 {source="DC-OMIM:113900", source="DOID:0111074", source="MONDO:Redundant", source="OMIM:113900"} ! progressive familial heart block
intersection_of: MONDO:0019490 ! progressive familial heart block
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007241
name: bundle branch block, familial isolated complete right
synonym: "bundle branch block, familial isolated complete right" EXACT [OMIM:113950]
xref: MEDGEN:83311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562759 {source="MONDO:equivalentTo"}
xref: OMIM:113950 {source="MONDO:equivalentTo"}
xref: SCTID:233919006 {source="MONDO:equivalentTo"}
xref: UMLS:C0340504 {source="MEDGEN:83311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007242
name: butyrylesterase 1
synonym: "butyrylesterase 1" EXACT [OMIM:113960]
synonym: "Butyrylesterase type 1" EXACT [MONDORULE:1, OMIM:113960]
xref: MEDGEN:396267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:113960 {source="MONDO:equivalentTo"}
xref: UMLS:C1861981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396267"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007243
name: Burkitt lymphoma
def: "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." [Orphanet:543]
subset: gard_rare {source="GARD:5973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:543"}
subset: orphanet_rare {source="Orphanet:543"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113970]
synonym: "Burkitt lymphoma" EXACT [MONDO:Lexical, NCIT:C2912, OMIM:113970]
synonym: "burkitt lymphoma, somatic" EXACT [OMIM:113970, OMIM:genemap2]
synonym: "Burkitt lymphoma/leukemia" EXACT [DOID:8584]
synonym: "Burkitt's lymphoma" EXACT [DOID:8584, MTH:NOCODE, NCIT:C2912]
synonym: "Burkitt's tumor" EXACT [DOID:8584]
synonym: "Burkitt's tumor or lymphoma" EXACT [DOID:8584]
synonym: "Burkitt's tumour" EXACT OMO:0003005 []
synonym: "Burkitt's tumour or lymphoma" EXACT OMO:0003005 []
synonym: "malignant lymphoma, Burkitt's type" EXACT [DOID:8584]
synonym: "small non-cleaved cell lymphoma" EXACT [Orphanet:543]
synonym: "small non-cleaved cell lymphoma, Burkitt's type" EXACT [DOID:8584, NCIT:C2912]
xref: DOID:8584 {source="MONDO:equivalentTo", source="EFO:0000309"}
xref: EFO:0000309 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5973 {source="MONDO:GARD"}
xref: ICD10CM:C83.7 {source="Orphanet:543", source="Orphanet:543/e", source="DOID:8584"}
xref: ICD10CM:C83.70 {source="DOID:8584"}
xref: icd11.foundation:2100138081 {source="Orphanet:543", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:200.2 {source="DOID:8584", source="EFO:0000309"}
xref: ICDO:9687/3 {source="NCIT:C2912"}
xref: MedDRA:10006595 {source="Orphanet:543", source="Orphanet:543/e"}
xref: MedDRA:10053518 {source="Orphanet:543", source="Orphanet:543/e"}
xref: MedDRA:10067184 {source="Orphanet:543", source="Orphanet:543/e"}
xref: MEDGEN:2377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002051 {source="Orphanet:543", source="MONDO:equivalentTo", source="Orphanet:543/e", source="DOID:8584", source="EFO:0000309"}
xref: MESH:D008228 {source="Orphanet:543", source="Orphanet:543/e"}
xref: NCIT:C2912 {source="MONDO:equivalentTo", source="DOID:8584", source="EFO:0000309"}
xref: NCIT:C7400 {source="DOID:8584", source="EFO:0000309"}
xref: OMIM:113970 {source="Orphanet:543", source="MONDO:equivalentTo", source="Orphanet:543/e", source="DOID:8584", source="EFO:0000309"}
xref: ONCOTREE:BL {source="MONDO:equivalentTo"}
xref: Orphanet:543 {source="MONDO:equivalentTo", source="OMIM:113970"}
xref: SCTID:118617000 {source="MONDO:equivalentTo", source="DOID:8584"}
xref: SCTID:154581008 {source="DOID:8584"}
xref: SCTID:188509006 {source="DOID:8584"}
xref: SCTID:188518008 {source="DOID:8584"}
xref: SCTID:190022008 {source="DOID:8584"}
xref: SCTID:190023003 {source="DOID:8584"}
xref: SCTID:22197008 {source="DOID:8584", source="EFO:0000309"}
xref: SCTID:277571004 {source="MONDO:relatedTo", source="DOID:8584"}
xref: SCTID:397400006 {source="DOID:8584"}
xref: SCTID:77381001 {source="DOID:8584", source="EFO:0000309"}
xref: UMLS:C0006413 {source="MONDO:equivalentTo", source="MEDGEN:2377", source="MONDO:MEDGEN"}
is_a: MONDO:0004949 {source="DOID:8584", source="EFO:0000309", source="NCIT:C2912/inferred", source="ONCOTREE:BL"} ! neoplasm of mature B-cells
is_a: MONDO:0017343 {source="Orphanet:543"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0017595 {source="Orphanet:543"} ! aggressive B-cell non-Hodgkin lymphoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7553 {source="MONDO:mim2gene_medgen"} ! MYC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007244
name: Caffey disease
def: "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." [Orphanet:1310]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1310"}
subset: ordo_malformation_syndrome {source="Orphanet:1310"}
subset: orphanet_rare {source="Orphanet:1310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Caffey disease" EXACT [NCIT:C118423, OMIM:114000]
synonym: "cortical congenital hyperostosis" EXACT [DOID:4257]
synonym: "infantile cortical hyperostosis" EXACT [DOID:4257, NCIT:C118423, OMIM:114000, Orphanet:1310]
xref: DOID:4257 {source="MONDO:equivalentTo"}
xref: GARD:1051 {source="MONDO:GARD"}
xref: ICD10CM:M89.8 {source="DOID:4257", source="Orphanet:1310", source="Orphanet:1310/attributed", source="Orphanet:1310/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:43781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006958 {source="DOID:4257", source="MONDO:equivalentTo"}
xref: NCIT:C118423 {source="DOID:4257", source="MONDO:equivalentTo"}
xref: NCIT:C84645 {source="DOID:4257"}
xref: OMIM:114000 {source="DOID:4257", source="Orphanet:1310", source="MONDO:equivalentTo", source="Orphanet:1310/e"}
xref: Orphanet:1310 {source="OMIM:114000", source="MONDO:equivalentTo"}
xref: SCTID:123258003 {source="DOID:4257"}
xref: SCTID:24752008 {source="DOID:4257", source="MONDO:equivalentTo"}
xref: UMLS:C0020497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43781"}
is_a: MONDO:0002185 {source="MESH:D006958", source="NCIT:C118423"} ! hyperostosis
is_a: MONDO:0002614 {source="DOID:4257"} ! bone inflammation disease
is_a: MONDO:0019702 {source="Orphanet:1310", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia
relationship: disease_has_feature HP:0000737 ! Irritability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2197 {source="MONDO:mim2gene_medgen"} ! COL1A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007245
name: cafe au lait spots, multiple
def: "A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." [https://orcid.org/0000-0001-5208-3432, Orphanet:2678]
subset: gard_rare {source="GARD:3967", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2678"}
subset: ordo_malformation_syndrome {source="Orphanet:2678"}
subset: orphanet_rare {source="Orphanet:2678"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant café au lait spots" EXACT [GARD:0003967]
synonym: "cafe-au-lait spots, multiple" EXACT [GARD:0001050, OMIM:114030]
synonym: "familial cafe-au-lait spots" EXACT [GARD:0003967, Orphanet:267]
synonym: "familial café-au-lait spots" EXACT [GARD:0003967, Orphanet:2678]
synonym: "multiple cafe-au-lait spots" EXACT [GARD:0003967, Orphanet:2678]
synonym: "multiple cafe-au-lait syndrome" EXACT [GARD:0003967, Orphanet:2678]
synonym: "multiple café-au-lait spots" EXACT [GARD:0003967, Orphanet:2678]
synonym: "multiple café-au-lait syndrome" EXACT [GARD:0003967, Orphanet:2678]
synonym: "neurofibromatosis type 6" EXACT [GARD:0003967, Orphanet:2678]
synonym: "NF6" EXACT ABBREVIATION [GARD:0003967, Orphanet:2678]
xref: GARD:3967 {source="MONDO:GARD"}
xref: ICD10CM:L81.3 {source="Orphanet:2678", source="Orphanet:2678/specific", source="Orphanet:2678/e"}
xref: MEDGEN:396266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537421 {source="MONDO:equivalentTo"}
xref: OMIM:114030 {source="MONDO:equivalentTo", source="Orphanet:2678", source="GARD:0003967", source="GARD:0001050", source="Orphanet:2678/e"}
xref: Orphanet:2678 {source="OMIM:114030", source="MONDO:equivalentTo", source="GARD:0003967"}
xref: UMLS:C1861975 {source="MEDGEN:396266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019289 {source="Orphanet:2678"} ! hyperpigmentation of the skin
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots" xsd:anyURI {source="GARD:0003967"}

[Term]
id: MONDO:0007246
name: calcific aortic disease with immunologic abnormalities, familial
synonym: "calcific aortic disease with immunologic abnormalities, familial" EXACT [OMIM:114065]
xref: MEDGEN:354631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566182 {source="MONDO:equivalentTo"}
xref: OMIM:114065 {source="MONDO:equivalentTo"}
xref: UMLS:C1861974 {source="MEDGEN:354631", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007247
name: basal ganglia calcification, idiopathic, childhood-onset
comment: Not in the OMIM series. {source="OMIM:114100"}
subset: gard_rare {source="GARD:9598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "basal ganglia calcification, idiopathic, childhood-onset" EXACT [OMIM:114100]
synonym: "bilateral striopallidodentate calcinosis childhood-onset" RELATED [GARD:0009598]
synonym: "cerebral calcification nonarteriosclerotic idiopathic childhood-onset" RELATED [GARD:0009598]
synonym: "cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset" RELATED [OMIM:114100]
synonym: "IBGC childhood onset" RELATED [GARD:0009598]
synonym: "IBGC, childhood-onset" RELATED [OMIM:114100]
synonym: "idiopathic basal ganglia calcification childhood-onset" RELATED [GARD:0009598]
synonym: "striopallidodentate calcinosis, bilateral, childhood-onset" RELATED [OMIM:114100]
xref: GARD:9598 {source="MONDO:GARD"}
xref: MEDGEN:396262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536276 {source="MONDO:equivalentTo"}
xref: OMIM:114100 {source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="OMIM:114100"}
xref: UMLS:C1861967 {source="MEDGEN:396262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008947 ! bilateral striopallidodentate calcinosis
is_a: MONDO:0018866 {source="Orphanet:51/btnt"} ! Aicardi-Goutieres syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:114100"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9598/idiopathic-basal-ganglia-calcification-childhood-onset" xsd:anyURI {source="GARD:0009598"}

[Term]
id: MONDO:0007248
name: hereditary painful callosities
def: "Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin." [Orphanet:79141]
subset: gard_rare {source="GARD:16705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79141"}
subset: orphanet_rare {source="Orphanet:79141"}
subset: rare
synonym: "callosities, hereditary painful" RELATED [OMIM:114140]
synonym: "callosities, painful plantar" RELATED [OMIM:114140]
synonym: "keratosis palmoplantaris nummularis" EXACT [Orphanet:79141]
synonym: "Plamoplantar hyperkeratosis nummularis" EXACT [Orphanet:79141]
synonym: "Plamoplantar keratoderma nummularis" EXACT [Orphanet:79141]
synonym: "PPK nummularis" EXACT [Orphanet:79141]
xref: GARD:16705 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:79141", source="Orphanet:79141/attributed", source="Orphanet:79141/ntbt"}
xref: MEDGEN:349400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566180 {source="MONDO:equivalentTo"}
xref: OMIM:114140 {source="MONDO:equivalentTo", source="Orphanet:79141", source="Orphanet:79141/e"}
xref: Orphanet:79141 {source="OMIM:114140", source="MONDO:equivalentTo"}
xref: UMLS:C1861964 {source="MEDGEN:349400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017672 {source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007249
name: camptobrachydactyly
def: "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." [Orphanet:1319]
subset: gard_rare {source="GARD:1062", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1319"}
subset: ordo_malformation_syndrome {source="Orphanet:1319"}
subset: orphanet_rare {source="Orphanet:1319"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptobrachydactyly" EXACT [OMIM:114150]
synonym: "short foot/brachydactyly of toes, camptodactyly, brachydactyly" RELATED [GARD:0001062]
xref: GARD:1062 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:1319/attributed", source="Orphanet:1319/ntbt", source="Orphanet:1319"}
xref: MEDGEN:349399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537967 {source="Orphanet:1319/e", source="MONDO:equivalentTo", source="Orphanet:1319"}
xref: OMIM:114150 {source="Orphanet:1319/e", source="MONDO:equivalentTo", source="Orphanet:1319"}
xref: Orphanet:1319 {source="MONDO:equivalentTo", source="OMIM:114150"}
xref: SCTID:733045005 {source="MONDO:equivalentTo"}
xref: UMLS:C1861963 {source="MEDGEN:349399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="Orphanet:1319"} ! brachydactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly" xsd:anyURI {source="GARD:0001062"}

[Term]
id: MONDO:0007250
name: camptodactyly of fingers
def: "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." [Orphanet:295016]
subset: gard_rare {source="GARD:9448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295016"}
subset: ordo_morphological_anomaly {source="Orphanet:295016"}
subset: orphanet_rare {source="Orphanet:295016"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAMPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114200]
synonym: "camptodactyly 1" RELATED [MONDO:Lexical, OMIM:114200]
synonym: "camptodactyly and knuckle pads" RELATED [OMIM:114200]
synonym: "crooked little finger, familial" RELATED [GARD:0009448, MESH:C536852]
synonym: "familial streblodactyly" RELATED [GARD:0009448]
synonym: "minor streblomicrodactyly, familial" RELATED [GARD:0009448, MESH:C536852]
synonym: "streblodactyly" RELATED [OMIM:114200]
xref: GARD:9448 {source="MONDO:GARD"}
xref: ICD10CM:Q68.1 {source="Orphanet:295016", source="Orphanet:295016/attributed", source="Orphanet:295016/ntbt"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:416550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536852 {source="MONDO:equivalentTo"}
xref: MESH:C567780 {source="MONDO:equivalentTo"}
xref: OMIM:114200 {source="GARD:0009448", source="MONDO:equivalentTo", source="Orphanet:295016", source="Orphanet:295016/e"}
xref: Orphanet:295016 {source="OMIM:114200", source="MONDO:equivalentTo"}
xref: SCTID:29271008 {source="MONDO:equivalentTo"}
xref: UMLS:C2751430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416550"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly" xsd:anyURI {source="GARD:0009448"}

[Term]
id: MONDO:0007251
name: campomelic dysplasia
def: "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." [Orphanet:140]
comment: Editor note: consider adding grouping class for related disorders
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10027", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:884"}
subset: ordo_disorder {source="Orphanet:140"}
subset: ordo_malformation_syndrome {source="Orphanet:140"}
subset: orphanet_rare {source="Orphanet:140"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acampomelic campomelic dysplasia" NARROW [DOID:0050463, OMIM:114290]
synonym: "acampomelic campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290]
synonym: "campomelic dwarfism" EXACT [Orphanet:140]
synonym: "campomelic dysplasia" EXACT CLINGEN_LABEL [OMIM:114290]
synonym: "campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290]
synonym: "Campomelic Syndrome" EXACT [NORD:884]
synonym: "camptomelic dysplasia" RELATED [OMIM:114290]
synonym: "CMD" EXACT ABBREVIATION [NCIT:C84609]
synonym: "Cmd1" RELATED [OMIM:114290]
synonym: "Cmpd" RELATED [OMIM:114290]
synonym: "CMPD1" RELATED ABBREVIATION [GARD:0010027]
synonym: "Cmpd1/Sra1" RELATED [OMIM:114290]
xref: DOID:0050463 {source="MONDO:equivalentTo"}
xref: GARD:10027 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:140", source="Orphanet:140/attributed", source="Orphanet:140/ntbt"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:354620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055036 {source="DOID:0050463", source="MONDO:equivalentTo", source="Orphanet:140", source="Orphanet:140/e"}
xref: NCIT:C120205 {source="DOID:0050463"}
xref: NCIT:C84609 {source="DOID:0050463", source="MONDO:equivalentTo"}
xref: NORD:884 {source="MONDO:NORD"}
xref: OMIM:114290 {source="DOID:0050463", source="MONDO:equivalentTo", source="Orphanet:140", source="Orphanet:140/e"}
xref: Orphanet:140 {source="MONDO:equivalentTo", source="OMIM:114290"}
xref: SCTID:74928006 {source="DOID:0050463", source="MONDO:equivalentTo"}
xref: UMLS:C1861922 {source="MEDGEN:354620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0005516 {source="DOID:0050463"} ! osteochondrodysplasia
is_a: MONDO:0015160 {source="Orphanet:140"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019698 {source="Orphanet:140", source="PMID:31633310"} ! bent bone dysplasia
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0020040 {source="https://orcid.org/0000-0001-5208-3432"} ! 46,XY disorder of sex development
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11204 {source="MONDO:mim2gene_medgen"} ! SOX9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007252
name: Gordon syndrome
def: "An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." [https://orcid.org/0000-0001-5208-3432, Orphanet:376]
subset: gard_rare {source="GARD:2553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1199"}
subset: ordo_disorder {source="Orphanet:376"}
subset: ordo_malformation_syndrome {source="Orphanet:376"}
subset: orphanet_rare {source="Orphanet:376"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis distal type 3" RELATED [GARD:0002553]
synonym: "arthrogryposis multiplex congenita, distal, type 2A" RELATED [OMIM:114300]
synonym: "arthrogryposis, distal, type 3" RELATED [MONDO:Lexical, OMIM:114300]
synonym: "camptodactyly, cleft palate, and clubfoot" RELATED [OMIM:114300]
synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT [Orphanet:376]
synonym: "DA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114300]
synonym: "distal arthrogryposis type 3" EXACT [Orphanet:376]
synonym: "distal arthrogryposis type IIA" EXACT [Orphanet:376]
synonym: "Gordon syndrome" EXACT [OMIM:114300]
xref: DOID:0111607 {source="MONDO:equivalentTo"}
xref: GARD:2553 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:376/attributed", source="Orphanet:376/ntbt", source="Orphanet:376"}
xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537288 {source="Orphanet:376/e", source="MONDO:equivalentTo", source="Orphanet:376"}
xref: NORD:1199 {source="MONDO:NORD"}
xref: OMIM:114300 {source="Orphanet:376/e", source="MONDO:equivalentTo", source="Orphanet:376"}
xref: Orphanet:376 {source="MONDO:equivalentTo", source="OMIM:114300"}
xref: SCTID:237850008 {source="MONDO:equivalentTo"}
xref: UMLS:C0220666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66314"}
is_a: MONDO:0015161 {source="Orphanet:376"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019942 {source="DC-OMIM:114300", source="Orphanet:376"} ! distal arthrogryposis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome" xsd:anyURI {source="GARD:0002553"}

[Term]
id: MONDO:0007253
name: cancer, familial, with in vitro Radioresistance
synonym: "cancer, familial, with in vitro RADIORESISTANCE" RELATED [OMIM:114450]
xref: MEDGEN:396248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566179 {source="MONDO:equivalentTo"}
xref: OMIM:114450 {source="MONDO:equivalentTo"}
xref: UMLS:C1861915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396248"}
is_a: MONDO:0003847 {source="MESH:C566179/inferred"} ! hereditary disease

[Term]
id: MONDO:0007254
name: breast cancer
def: "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." [NCIT:C9335]
subset: otar {source="MONDO:OTAR"}
synonym: "breast cancer" EXACT [MONDO:patterns/location]
synonym: "breast tumor" BROAD [DOID:1612, NCIT:C2910]
synonym: "breast tumour" BROAD OMO:0003005 []
synonym: "cancer of breast" EXACT [MONDO:patterns/cancer]
synonym: "malignant breast neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9335]
synonym: "malignant breast tumor" EXACT [NCIT:C9335]
synonym: "malignant breast tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of breast" EXACT [DOID:1612, MONDO:patterns/cancer, NCIT:C9335]
synonym: "malignant neoplasm of the breast" EXACT [NCIT:C9335]
synonym: "malignant tumor of breast" EXACT [NCIT:C9335]
synonym: "malignant tumor of the breast" EXACT [DOID:1612, NCIT:C9335]
synonym: "malignant tumour of breast" EXACT OMO:0003005 []
synonym: "malignant tumour of the breast" EXACT OMO:0003005 []
synonym: "mammary cancer" EXACT [DOID:1612]
synonym: "mammary neoplasm" RELATED [DOID:1612]
synonym: "mammary tumor" BROAD [DOID:1612]
synonym: "mammary tumour" BROAD OMO:0003005 []
synonym: "primary breast cancer" NARROW [DOID:1612]
xref: DOID:1612 {source="MONDO:equivalentTo"}
xref: ICD10CM:C50 {source="MONDO:equivalentTo", source="DOID:1612"}
xref: ICD10CM:C50-C50 {source="DOID:1612"}
xref: ICD9:174.8 {source="DOID:1612"}
xref: MEDGEN:651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001943 {source="DOID:1612"}
xref: NCIT:C9335 {source="MONDO:equivalentTo", source="DOID:1612"}
xref: SCTID:126926005 {source="DOID:1612"}
xref: SCTID:154521006 {source="DOID:1612"}
xref: SCTID:190121004 {source="DOID:1612"}
xref: SCTID:254837009 {source="MONDO:equivalentTo", source="DOID:1612"}
xref: SCTID:269595005 {source="DOID:1612"}
xref: UMLS:C0006142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:651"}
is_a: MONDO:0003274 {source="DOID:1612", source="MONDO:Redundant"} ! thoracic cancer
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C9335"} ! breast neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0007255
name: obsolete colorectal cancer
is_obsolete: true
replaced_by: MONDO:0005575

[Term]
id: MONDO:0007256
name: hepatocellular carcinoma
def: "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." [NCIT:C3099]
subset: gard_rare {source="GARD:16773", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1907"}
subset: ordo_group_of_disorders {source="Orphanet:88673"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult hepatoma" NARROW [DOID:684, NCIT:C7956]
synonym: "adult primary hepatocellular carcinoma" NARROW [DOID:684]
synonym: "cancer, hepatocellular" EXACT [OMIM:114550]
synonym: "carcinoma of liver" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of liver cells" EXACT [NCIT:C3099]
synonym: "carcinoma of the liver cells" EXACT [NCIT:C3099]
synonym: "carcinoma, hepatocellular, malignant" EXACT [NCIT:C3099]
synonym: "HCC" EXACT ABBREVIATION [DOID:684, NCIT:C3099, OMIM:114550, Orphanet:88673]
synonym: "hepatoblastoma" RELATED [OMIM:114550]
synonym: "hepatoblastoma caused by somatic mutation" RELATED [OMIM:114550]
synonym: "hepatoblastoma, somatic" EXACT [OMIM:114550, OMIM:genemap2]
synonym: "hepatocellular adenocarcinoma" EXACT [MONDO:design_patterns]
synonym: "hepatocellular cancer" EXACT [NCIT:C3099]
synonym: "hepatocellular cancer, somatic" EXACT [OMIM:114550, OMIM:genemap2]
synonym: "hepatocellular carcinoma" EXACT [NCIT:C3099, OMIM:114550]
synonym: "hepatocellular carcinoma, childhood type, somatic" EXACT [OMIM:114550, OMIM:genemap2]
synonym: "hepatocellular carcinoma, somatic" EXACT [OMIM:114550, OMIM:genemap2]
synonym: "hepatoma" EXACT [DOID:684, https://orcid.org/0000-0002-6601-2165, NCIT:C3099, OMIM:114550]
synonym: "liver and intrahepatic bile duct carcinoma" RELATED [DOID:686, NCIT:C7927]
synonym: "liver cancer" RELATED [OMIM:114550]
synonym: "liver carcinoma" EXACT [MONDO:0004018, MONDO:patterns/location]
synonym: "liver cell cancer (hepatocellular carcinoma)" EXACT [NCIT:C3099]
synonym: "liver cell carcinoma" EXACT [NCIT:C3099, OMIM:114550]
synonym: "primary carcinoma of liver cells" EXACT [NCIT:C3099]
synonym: "primary carcinoma of the liver cells" EXACT [NCIT:C3099]
xref: DOID:684 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000182"}
xref: DOID:686 {source="MONDO:equivalentTo"}
xref: EFO:0000182 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16773 {source="MONDO:GARD"}
xref: ICD10CM:C22.0 {source="Orphanet:88673/e", source="Orphanet:88673"}
xref: icd11.foundation:1294035808 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:88673"}
xref: ICDO:8170/3 {source="NCIT:C3099"}
xref: MedDRA:10049010 {source="Orphanet:88673/e", source="Orphanet:88673"}
xref: MEDGEN:389187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006528 {source="Orphanet:88673/e", source="MONDO:equivalentTo", source="EFO:0000182", source="Orphanet:88673"}
xref: MESH:D008113 {source="EFO:0000182"}
xref: NANDO:2200047 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3099 {source="MONDO:equivalentTo", source="EFO:0000182"}
xref: NCIT:C7711 {source="DOID:684"}
xref: NCIT:C7927 {source="DOID:686"}
xref: NCIT:C7956 {source="DOID:684"}
xref: NORD:1907 {source="MONDO:NORD"}
xref: OMIM:114550 {source="Orphanet:88673/e", source="MONDO:equivalentTo", source="DOID:684", source="EFO:0000182", source="Orphanet:88673"}
xref: ONCOTREE:HCC {source="MONDO:equivalentTo"}
xref: Orphanet:449 {source="OMIM:114550"}
xref: Orphanet:88673 {source="OMIM:114550", source="MONDO:equivalentTo"}
xref: SCTID:25370001 {source="EFO:0000182"}
xref: UMLS:C2239176 {source="MEDGEN:389187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002691 {source="DOID:684/inferred", source="DOID:686", source="MONDO:Redundant", source="NCIT:C3099/inferred"} ! liver cancer
is_a: MONDO:0004970 {source="MESH:D006528", source="NCIT:C3099"} ! adenocarcinoma
is_a: MONDO:0018531 {source="NCIT:C3099", source="Orphanet:88673"} ! carcinoma of liver and intrahepatic biliary tract
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_arises_from_structure CL:0000182 ! hepatocyte
relationship: disease_arises_from_structure CL:0000182 {source="NCIT:C3099"} ! hepatocyte
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007257
name: candidiasis, familial, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CANDF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:114580]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease" RELATED [OMIM:114580]
synonym: "candidiasis, familial, 1" EXACT [MONDO:Lexical, OMIM:114580]
synonym: "candidiasis, familial, 1, autosomal dominant" EXACT [OMIM:114580, OMIM:genemap2]
synonym: "Cmct" RELATED [OMIM:114580]
xref: MEDGEN:414015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567779 {source="MONDO:equivalentTo"}
xref: OMIM:114580 {source="MONDO:equivalentTo"}
xref: UMLS:C2751429 {source="MEDGEN:414015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015279 {source="OMIM:114580"} ! chronic mucocutaneous candidiasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007258
name: canine teeth, absence of upper permanent
synonym: "canine teeth, absence of upper permanent" EXACT [OMIM:114600]
xref: MEDGEN:396244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:114600 {source="MONDO:equivalentTo"}
xref: Orphanet:2227 {source="OMIM:114600"}
xref: UMLS:C1861899 {source="MEDGEN:396244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007259
name: craniofaciofrontodigital syndrome
def: "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." [Orphanet:363705]
subset: gard_rare {source="GARD:17571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363705"}
subset: orphanet_rare {source="Orphanet:363705"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cantu craniofaciofrontodigital syndrome" EXACT [OMIM:114620, Orphanet:363705]
synonym: "craniofaciofrontodigital syndrome" EXACT [OMIM:114620]
xref: GARD:17571 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:363705/attributed", source="Orphanet:363705/ntbt", source="Orphanet:363705"}
xref: MEDGEN:393947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567298 {source="MONDO:equivalentTo"}
xref: OMIM:114620 {source="Orphanet:363705/e", source="MONDO:equivalentTo", source="Orphanet:363705"}
xref: Orphanet:363705 {source="MONDO:equivalentTo", source="OMIM:114620"}
xref: SCTID:763320005 {source="MONDO:equivalentTo"}
xref: UMLS:C2676032 {source="MEDGEN:393947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:363705"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100237 {source="Orphanet:363705"} ! inherited cutis laxa

[Term]
id: MONDO:0007260
name: Car factor deficiency
subset: n_of_one
synonym: "Car factor deficiency" EXACT [OMIM:114650]
xref: MEDGEN:354615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566176 {source="MONDO:equivalentTo"}
xref: OMIM:114650 {source="MONDO:equivalentTo"}
xref: UMLS:C1861898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354615"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007261
name: Carabelli anomaly of maxillary molar teeth
synonym: "Carabelli anomaly of maxillary molar teeth" EXACT [OMIM:114700]
xref: MEDGEN:396243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566175 {source="MONDO:equivalentTo"}
xref: OMIM:114700 {source="MONDO:equivalentTo"}
xref: UMLS:C1861897 {source="MONDO:equivalentTo", source="MEDGEN:396243", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007262
name: obsolete carcinoid syndrome
is_obsolete: true
replaced_by: MONDO:0006689

[Term]
id: MONDO:0007263
name: cardiac rhythm disease
def: "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "arrhythmia" EXACT [NCIT:C2881]
xref: ICD9:427.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001145 {source="EFO:0004269"}
xref: NCIT:C2881 {source="EFO:0004269", source="MONDO:equivalentTo"}
xref: SCTID:698247007 {source="EFO:0004269", source="MONDO:equivalentTo"}
xref: UMLS:C0003811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2039"}
is_a: MONDO:0005267 ! heart disorder
relationship: disease_disrupts GO:0003015 ! heart process

[Term]
id: MONDO:0007264
name: obsolete sudden cardiac death
def: "OBSOLETE. An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms." [NCIT:C50911]
synonym: "sudden cardiac death" EXACT [OMIM:115080]
xref: MESH:D016757 {source="EFO:0004278"}
xref: NCIT:C50911 {source="EFO:0004278", source="MONDO:otherHierarchy"}
xref: OMIM:115080 {source="EFO:0004278", source="MONDO:includedEntryInOMIM"}
xref: SCTID:95281009 {source="EFO:0004278", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenoype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2419" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true
consider: HP:0001645

[Term]
id: MONDO:0007265
name: cardiofaciocutaneous syndrome 1
def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BRAF cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiofaciocutaneous syndrome" BROAD [OMIM:115150, OMIM:genemap2]
synonym: "cardiofaciocutaneous syndrome 1" EXACT [MONDO:Lexical, OMIM:115150]
synonym: "cardiofaciocutaneous syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern]
synonym: "cardiofaciocutaneous syndrome type 1" EXACT [MONDORULE:1, OMIM:115150]
synonym: "CFC syndrome" RELATED [OMIM:115150]
synonym: "CFC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115150]
synonym: "Cfcs" RELATED [OMIM:115150]
xref: DOID:0111460 {source="MONDO:equivalentTo"}
xref: OMIM:115150 {source="MONDO:equivalentTo"}
xref: Orphanet:1340 {source="OMIM:115150"}
is_a: MONDO:0015280 {source="DC-OMIM:115150", source="MONDO:Redundant", source="OMIM:115150"} ! cardiofaciocutaneous syndrome
intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 ! BRAF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 {source="MONDO:mim2gene_medgen"} ! BRAF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007266
name: hypertrophic cardiomyopathy 2
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 2" EXACT [DOID:0110308]
synonym: "cardiomyopathy, familial hypertrophic, 2" RELATED [MONDO:Lexical, OMIM:115195]
synonym: "cardiomyopathy, familial hypertrophic, type 2" EXACT [MONDORULE:1, OMIM:115195]
synonym: "cardiomyopathy, hypertrophic, 2" EXACT [OMIM:115195, OMIM:genemap2]
synonym: "CMH2" EXACT ABBREVIATION [DOID:0110308, MONDO:Lexical, OMIM:115195]
synonym: "familial hypertrophic cardiomyopathy type 2" EXACT [NCIT:C142892]
synonym: "hypertrophic cardiomyopathy 2" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 2" EXACT [DOID:0110308, MONDORULE:1]
synonym: "TNNT2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110308 {source="MONDO:equivalentTo"}
xref: MEDGEN:349383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566171 {source="MONDO:equivalentTo"}
xref: NCIT:C142892 {source="MONDO:equivalentTo"}
xref: OMIM:115195 {source="MONDO:equivalentTo", source="DOID:0110308"}
xref: Orphanet:155 {source="OMIM:115195"}
xref: UMLS:C1861864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349383"}
is_a: MONDO:0005045 {source="DC-OMIM:115195", source="DOID:0110308", source="MESH:C566171/inferred", source="MONDO:Redundant", source="NCIT:C142892/inferred", source="OMIM:115195"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C566171", source="MONDO:OMIM", source="NCIT:C142892", source="OMIM:115195"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 ! TNNT2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 {source="MONDO:mim2gene_medgen"} ! TNNT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007267
name: hypertrophic cardiomyopathy 3
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 3" EXACT [DOID:0110309]
synonym: "cardiomyopathy, familial hypertrophic, 3" RELATED [MONDO:Lexical, OMIM:115196]
synonym: "cardiomyopathy, familial hypertrophic, type 3" EXACT [MONDORULE:1, OMIM:115196]
synonym: "cardiomyopathy, hypertrophic, 3" EXACT [OMIM:115196, OMIM:genemap2]
synonym: "CMH3" EXACT ABBREVIATION [DOID:0110309, MONDO:Lexical, OMIM:115196]
synonym: "hypertrophic cardiomyopathy 3" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in TPM1" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 3" EXACT [DOID:0110309, MONDORULE:1]
synonym: "TPM1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110309 {source="MONDO:equivalentTo"}
xref: MEDGEN:349382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566170 {source="MONDO:equivalentTo"}
xref: OMIM:115196 {source="DOID:0110309", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:115196"}
xref: UMLS:C1861863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349382"}
is_a: MONDO:0005045 {source="DC-OMIM:115196", source="DOID:0110309", source="MESH:C566170/inferred", source="MONDO:Redundant", source="OMIM:115196"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C566170", source="MONDO:OMIM", source="OMIM:115196"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12010 ! TPM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12010 {source="MONDO:mim2gene_medgen"} ! TPM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007268
name: hypertrophic cardiomyopathy 4
def: "An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy." [NCIT:C133725]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy, familial hypertrophic, 4" EXACT [DOID:0110310, MONDO:Lexical, OMIM:115197]
synonym: "cardiomyopathy, familial hypertrophic, 4, susceptibility to" RELATED [OMIM:115197]
synonym: "cardiomyopathy, familial hypertrophic, type 4" EXACT [MONDORULE:1, OMIM:115197]
synonym: "cardiomyopathy, hypertrophic, 4" EXACT [OMIM:115197, OMIM:genemap2]
synonym: "CMH4" EXACT ABBREVIATION [DOID:0110310, MONDO:Lexical, OMIM:115197]
synonym: "familial hypertrophic cardiomyopathy type 4" EXACT [NCIT:C133725]
synonym: "hypertrophic cardiomyopathy 4" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in MYBPC3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 4" EXACT [DOID:0110310, MONDORULE:1]
synonym: "MYBPC3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110310 {source="MONDO:equivalentTo"}
xref: MEDGEN:350526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566169 {source="MONDO:equivalentTo"}
xref: NCIT:C133725 {source="MONDO:equivalentTo"}
xref: OMIM:115197 {source="MONDO:equivalentTo", source="DOID:0110310"}
xref: Orphanet:155 {source="OMIM:115197"}
xref: UMLS:C1861862 {source="MEDGEN:350526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:115197", source="DOID:0110310", source="MESH:C566169/inferred", source="MONDO:Redundant", source="NCIT:C133725", source="NCIT:C133725/inferred", source="OMIM:115197"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C566169", source="MONDO:OMIM", source="NCIT:C133725", source="OMIM:115197"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 ! MYBPC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 {source="MONDO:mim2gene_medgen"} ! MYBPC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007269
name: dilated cardiomyopathy 1A
def: "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." [Orphanet:300751]
subset: gard_rare {source="GARD:18615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300751"}
subset: orphanet_rare {source="Orphanet:300751"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy dilated with conduction defect type 1" EXACT [MONDO:0022651]
synonym: "cardiomyopathy, congestive" RELATED [OMIM:115200]
synonym: "cardiomyopathy, dilated, 1A" RELATED [MONDO:Lexical, OMIM:115200]
synonym: "cardiomyopathy, dilated, type 1A" EXACT [MONDORULE:4, OMIM:115200]
synonym: "cardiomyopathy, dilated, with conduction defect 1" RELATED [OMIM:115200]
synonym: "cardiomyopathy, familial idiopathic" RELATED [OMIM:115200]
synonym: "cardiomyopathy, idiopathic dilated" RELATED [OMIM:115200]
synonym: "CDCD1" EXACT ABBREVIATION [DOID:0110425]
synonym: "CMD1A" RELATED EXCLUDE [DOID:0110425, MONDO:Lexical, OMIM:115200]
synonym: "dilated cardiomyopathy 1A" EXACT CLINGEN_LABEL []
synonym: "dilated cardiomyopathy type 1A" EXACT [DOID:0110425, MONDORULE:4]
synonym: "dilated cardiomyopathy with conduction defect 1" EXACT [DOID:0110425]
synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [DOID:0110425]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "LMNA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110425 {source="MONDO:equivalentTo"}
xref: GARD:18615 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="Orphanet:300751/attributed", source="Orphanet:300751/ntbt", source="Orphanet:300751"}
xref: MEDGEN:258500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115200 {source="DOID:0110425", source="Orphanet:300751", source="MONDO:equivalentTo", source="Orphanet:300751/e"}
xref: Orphanet:300751 {source="DOID:0110425", source="OMIM:115200", source="MONDO:equivalentTo"}
xref: SCTID:766883006 {source="MONDO:equivalentTo"}
xref: UMLS:C1449563 {source="MEDGEN:258500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:115200", source="Orphanet:300751"} ! familial dilated cardiomyopathy
relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1" xsd:anyURI {source="GARD:0001104"}

[Term]
id: MONDO:0007270
name: cardiomyopathy, familial restrictive, 1
def: "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, familial restrictive, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:115210]
synonym: "cardiomyopathy, familial restrictive, type 1" EXACT [MONDORULE:1, OMIM:115210]
synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern]
synonym: "Rcm" RELATED [OMIM:115210]
synonym: "RCM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115210]
synonym: "TNNI3 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111425 {source="MONDO:equivalentTo"}
xref: GARD:18070 {source="MONDO:GARD"}
xref: MEDGEN:396236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566168 {source="MONDO:equivalentTo"}
xref: OMIM:115210 {source="MONDO:equivalentTo"}
xref: Orphanet:75249 {source="OMIM:115210"}
xref: UMLS:C1861861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396236"}
is_a: MONDO:0016340 {source="MONDO:Redundant", source="OMIM:115210"} ! familial restrictive cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3

[Term]
id: MONDO:0007271
name: familial cutaneous collagenoma
def: "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission." [Orphanet:53296]
subset: gard_rare {source="GARD:9799", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53296"}
subset: orphanet_rare {source="Orphanet:53296"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "collagenoma, familial cutaneous" RELATED [OMIM:115250]
xref: GARD:9799 {source="MONDO:GARD"}
xref: ICD10CM:L94.8 {source="Orphanet:53296/attributed", source="Orphanet:53296/ntbt", source="Orphanet:53296"}
xref: MEDGEN:96073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562925 {source="MONDO:equivalentTo"}
xref: OMIM:115250 {source="Orphanet:53296/e", source="MONDO:equivalentTo", source="Orphanet:53296"}
xref: Orphanet:53296 {source="MONDO:equivalentTo", source="OMIM:115250"}
xref: SCTID:239139000 {source="MONDO:equivalentTo"}
xref: UMLS:C0406817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96073"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma" xsd:anyURI {source="GARD:0009799"}

[Term]
id: MONDO:0007272
name: hereditary hypercarotenemia and vitamin A deficiency
def: "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." [Orphanet:199285]
subset: gard_rare {source="GARD:17090", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199285"}
subset: orphanet_rare {source="Orphanet:199285"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carotenoids, plasma level of, quantitative trait locus 1" RELATED [OMIM:115300]
synonym: "HCVAD" RELATED ABBREVIATION [OMIM:115300]
synonym: "hypercarotenemia and vitamin A deficiency, autosomal dominant" RELATED [OMIM:115300]
xref: GARD:17090 {source="MONDO:GARD"}
xref: ICD10CM:E50.8 {source="Orphanet:199285", source="Orphanet:199285/attributed", source="Orphanet:199285/ntbt"}
xref: MEDGEN:393944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567296 {source="MONDO:equivalentTo"}
xref: OMIM:115300 {source="Orphanet:199285", source="MONDO:equivalentTo", source="Orphanet:199285/e"}
xref: Orphanet:199285 {source="OMIM:115300", source="MONDO:equivalentTo"}
xref: SCTID:726079008 {source="MONDO:equivalentTo"}
xref: UMLS:C2676023 {source="MEDGEN:393944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease
is_a: MONDO:0017758 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of vitamin and non-protein cofactor absorption and transport
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13815 {source="MONDO:mim2gene_medgen"} ! BCO1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007273
name: paragangliomas 4
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10546", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "carotid body tumors and multiple extraadrenal Pheochromocytomas" RELATED [OMIM:115310]
synonym: "carotid body tumours and multiple extraadrenal Pheochromocytomas" RELATED OMO:0003005 []
synonym: "paraganglioma caused by mutation in SDHB" EXACT [MONDO:design_pattern]
synonym: "paraganglioma, familial malignant" RELATED [OMIM:115310]
synonym: "paragangliomas 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:115310]
synonym: "paragangliomas type 4" EXACT [MONDORULE:1, OMIM:115310]
synonym: "paragangliomas, hereditary extraadrenal" RELATED [OMIM:115310]
synonym: "PGL4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115310]
synonym: "pheochromocytoma, extraadrenal and cervical paraganglioma" RELATED [GARD:0010546]
synonym: "pheochromocytoma, extraadrenal, and cervical paraganglioma" RELATED [OMIM:115310]
synonym: "pheochromocytoma, familial extraadrenal" RELATED [OMIM:115310]
synonym: "SDHB paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SDHB-related hereditary paraganglioma-pheochromocytoma syndrome" RELATED [GARD:0010546]
xref: GARD:10546 {source="MONDO:GARD"}
xref: MEDGEN:349380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115310 {source="MONDO:equivalentTo"}
xref: Orphanet:29072 {source="OMIM:115310"}
xref: UMLS:C1861848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349380"}
is_a: MONDO:0000448 {source="DC-OMIM:115310", source="MONDO:Redundant", source="OMIM:115310"} ! paraganglioma
is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neoplasm
is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10681 ! SDHB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10681 {source="MONDO:mim2gene_medgen"} ! SDHB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4" xsd:anyURI {source="GARD:0010546"}

[Term]
id: MONDO:0007274
name: carpal displacement
synonym: "carpal bossing" RELATED [OMIM:115400]
synonym: "carpal displacement" EXACT [OMIM:115400]
xref: MEDGEN:348468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115400 {source="MONDO:equivalentTo"}
xref: UMLS:C1861847 {source="MEDGEN:348468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007275
name: carpal tunnel syndrome
def: "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement." [NCIT:P378]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyotrophy, thenar, of carpal origin" RELATED [OMIM:115430]
synonym: "carpal tunnel median neuropathy" EXACT [DOID:12169]
synonym: "carpal tunnel syndrome" EXACT [DOID:12169, ICD9CM:354.0, MONDO:Lexical, OMIM:115430]
synonym: "CTS" RELATED ABBREVIATION [OMIM:115430]
synonym: "CTS - carpal tunnel syndrome" EXACT [DOID:12169]
synonym: "median nerve entrapment" EXACT [DOID:12169]
xref: DOID:12169 {source="MONDO:equivalentTo", source="EFO:0004143"}
xref: EFO:0004143 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G56.0 {source="MONDO:equivalentTo", source="DOID:12169"}
xref: ICD10CM:G56.00 {source="DOID:12169"}
xref: ICD9:354.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0004143", source="DOID:12169"}
xref: MEDGEN:2856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002349 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"}
xref: NCIT:C34450 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"}
xref: OMIMPS:115430 {source="MONDO:equivalentTo"}
xref: Orphanet:50838 {source="MONDO:equivalentObsolete"}
xref: SCTID:155073007 {source="DOID:12169"}
xref: SCTID:193126005 {source="DOID:12169"}
xref: SCTID:246611002 {source="DOID:12169"}
xref: SCTID:57406009 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"}
xref: UMLS:C0007286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2856"}
is_a: MONDO:0003615 {source="DOID:12169", source="MESH:D002349"} ! nerve compression syndrome
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C34450", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:115430"} ! inherited

[Term]
id: MONDO:0007276
name: cat-eye syndrome
def: "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." [Orphanet:195]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:26", source="MONDO:GARD"}
subset: nord_rare {source="NORD:899", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:195"}
subset: ordo_malformation_syndrome {source="Orphanet:195"}
subset: orphanet_rare {source="Orphanet:195"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAT eye syndrome" EXACT [MONDO:Lexical, OMIM:115470]
synonym: "Cat Eye Syndrome" EXACT [NORD:899]
synonym: "cat-eye syndrome (Type I)" EXACT [DECIPHER:42]
synonym: "CES" EXACT ABBREVIATION [MONDO:Lexical, OMIM:115470, Orphanet:195]
synonym: "chromosome 22 partial tetrasomy" RELATED [OMIM:115470]
synonym: "Inv dup(22)(q11)" RELATED [OMIM:115470]
synonym: "Schmid-Fraccaro syndrome" RELATED [OMIM:115470]
xref: DECIPHER:42 {source="MONDO:equivalentTo"}
xref: GARD:26 {source="MONDO:GARD"}
xref: ICD10CM:Q92.8 {source="Orphanet:195", source="Orphanet:195/attributed", source="Orphanet:195/ntbt"}
xref: MEDGEN:120543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535918 {source="MONDO:equivalentTo", source="Orphanet:195", source="Orphanet:195/e"}
xref: NCIT:C75477 {source="MONDO:equivalentTo"}
xref: NORD:899 {source="MONDO:NORD"}
xref: OMIM:115470 {source="MONDO:equivalentTo", source="Orphanet:195", source="Orphanet:195/e"}
xref: Orphanet:195 {source="MONDO:equivalentTo", source="OMIM:115470"}
xref: SCTID:26445008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120543"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75477", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1838 {source="MONDO:mim2gene_medgen"} ! CECR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome" xsd:anyURI {source="GARD:0000026"}

[Term]
id: MONDO:0007277
name: cataract-aberrant oral frenula-growth delay syndrome
def: "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." [Orphanet:1373]
subset: gard_rare {source="GARD:5554", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1373"}
subset: ordo_malformation_syndrome {source="Orphanet:1373"}
subset: orphanet_rare {source="Orphanet:1373"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract, aberrant oral frenula, and growth retardation" RELATED [OMIM:115645]
synonym: "cataracts, aberrant oral frenula, and growth retardation" RELATED [GARD:0005554]
synonym: "Wellesley Carmen French syndrome" RELATED [GARD:0005554]
synonym: "Wellesley-Carman-French syndrome" EXACT [Orphanet:1373]
xref: GARD:5554 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1373", source="Orphanet:1373/attributed", source="Orphanet:1373/ntbt"}
xref: MEDGEN:350520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536691 {source="MONDO:equivalentTo"}
xref: OMIM:115645 {source="Orphanet:1373", source="MONDO:equivalentTo", source="Orphanet:1373/e"}
xref: Orphanet:1373 {source="MONDO:equivalentTo", source="OMIM:115645"}
xref: SCTID:715988005 {source="MONDO:equivalentTo"}
xref: UMLS:C1861835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350520"}
is_a: MONDO:0015161 {source="Orphanet:1373"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_characteristic HP:0000006 {source="https://orcid.org/0000-0002-4142-7153"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0007278
name: cataract 32 multiple types
def: "A cataract that has material basis in mutation in the region 14q22-q23." [DOID:0110227, PMID:6694185]
comment: Links to OMIM series but not listed. {source="OMIM:115650"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anterior polar cataract 1" NARROW [DOID:0110227]
synonym: "cataract 32, multiple types" RELATED [MONDO:Lexical, OMIM:115650]
synonym: "cataract, anterior polar" RELATED [OMIM:115650]
synonym: "cataract, anterior polar, 1" RELATED [OMIM:115650]
synonym: "cataract, posterior polar, 5" RELATED [OMIM:115650]
synonym: "CTAA1" NARROW ABBREVIATION [DOID:0110227]
synonym: "CTPP5" NARROW ABBREVIATION [DOID:0110227]
synonym: "CTRCT32" EXACT ABBREVIATION [DOID:0110227, MONDO:Lexical, OMIM:115650]
synonym: "posterior polar cataract 5" NARROW [DOID:0110227]
xref: DOID:0110227 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110227"}
xref: MEDGEN:854634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115650 {source="DOID:0110227", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:115650"}
xref: Orphanet:98988 {source="OMIM:115650", source="MONDO:relatedTo"}
xref: Orphanet:98993 {source="OMIM:115650", source="MONDO:relatedTo"}
xref: UMLS:C3887926 {source="MEDGEN:854634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110227", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:115650"} ! cataract
is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract

[Term]
id: MONDO:0007279
name: cataract 7
def: "A cataract that has material basis in variation in the region 17q24." [DOID:0110260, PMID:7704021]
subset: gard_rare {source="GARD:15046", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 7" EXACT [MONDO:Lexical, OMIM:115660]
synonym: "cataract 7, cerulean type" RELATED [OMIM:115660]
synonym: "cataract type 7" EXACT [DOID:0110260, MONDORULE:1]
synonym: "cataract, congenital, cerulean type, 1" RELATED [OMIM:115660]
synonym: "CCA1" NARROW ABBREVIATION [DOID:0110260]
synonym: "cerulean type cataract 7" NARROW [DOID:0110260]
synonym: "congenital cerulean type cataract 1" NARROW [DOID:0110260]
synonym: "CTRCT7" EXACT ABBREVIATION [DOID:0110260, MONDO:Lexical, OMIM:115660]
xref: DOID:0110260 {source="MONDO:equivalentTo"}
xref: GARD:15046 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110260"}
xref: OMIM:115660 {source="DOID:0110260", source="MONDO:equivalentTo"}
xref: Orphanet:217052 {source="OMIM:115660"}
xref: Orphanet:98989 {source="OMIM:115660"}
is_a: MONDO:0005129 {source="DOID:0110260", source="MONDO:Redundant", source="OMIM:115660"} ! cataract
is_a: MONDO:0020374 {source="Orphanet:98989/btnt"} ! cerulean cataract

[Term]
id: MONDO:0007280
name: cataract 8 multiple types
def: "A cataract that has material basis in variation in the region 1pter-p36.13." [DOID:0110228, PMID:7607651]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract 8, multiple types" RELATED [MONDO:Lexical, OMIM:115665]
synonym: "cataract congenital Volkmann type" RELATED [GARD:0001146]
synonym: "cataract, congenital, Volkmann type" EXACT [DOID:0110228, OMIM:115665]
synonym: "CCV" RELATED EXCLUDE [DOID:0110228]
synonym: "CTRCT8" EXACT ABBREVIATION [DOID:0110228, MONDO:Lexical, OMIM:115665]
xref: DOID:0110228 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110228"}
xref: MEDGEN:396230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538285 {source="MONDO:equivalentTo"}
xref: OMIM:115665 {source="DOID:0110228", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:115665"}
xref: Orphanet:98983 {source="MONDO:equivalentObsolete", source="OMIM:115665"}
xref: UMLS:C1861833 {source="MEDGEN:396230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110228", source="MESH:C538285", source="MONDO:Redundant", source="OMIM:115665"} ! cataract
is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract

[Term]
id: MONDO:0007281
name: cataract 4 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:1144", source="MONDO:GARD"}
subset: rare
synonym: "cataract (disease) caused by mutation in CRYGD" EXACT []
synonym: "cataract 4 multiple types with or without microcornea" EXACT [DOID:0110234]
synonym: "cataract 4, multiple types" RELATED [MONDO:Lexical, OMIM:115700]
synonym: "cataract 4, multiple types, with or without microcornea" RELATED [OMIM:115700]
synonym: "cataract, congenital, cerulean type, 3" RELATED [OMIM:115700]
synonym: "cataract, crystalline aculeiform" RELATED [OMIM:115700]
synonym: "cataract, Nonnuclear polymorphic congenital" RELATED [OMIM:115700]
synonym: "cataract, punctate, progressive juvenile-onset" RELATED [OMIM:115700]
synonym: "CCA3" NARROW ABBREVIATION [DOID:0110234]
synonym: "congenital cataract cerulean type 3" NARROW [DOID:0110234]
synonym: "CRYGD cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT4" EXACT ABBREVIATION [DOID:0110234, MONDO:Lexical, OMIM:115700]
xref: DOID:0110234 {source="MONDO:equivalentTo"}
xref: GARD:1144 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110234"}
xref: MEDGEN:761925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115700 {source="MONDO:equivalentTo", source="DOID:0110234"}
xref: Orphanet:217052 {source="OMIM:115700"}
xref: Orphanet:91492 {source="MONDO:relatedTo", source="OMIM:115700"}
xref: Orphanet:98986 {source="OMIM:115700"}
xref: Orphanet:98989 {source="MONDO:relatedTo", source="OMIM:115700"}
xref: Orphanet:98990 {source="MONDO:relatedTo", source="OMIM:115700"}
xref: Orphanet:98991 {source="MONDO:relatedTo", source="OMIM:115700"}
xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:115700"}
xref: UMLS:C3540850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761925"}
is_a: MONDO:0005129 {source="DOID:0110234", source="MONDO:Redundant", source="OMIM:115700"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2411 ! CRYGD
relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cataract - microcornea syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2411 {source="MONDO:mim2gene_medgen"} ! CRYGD

[Term]
id: MONDO:0007282
name: cataract 29
def: "A cataract that has material basis in variation in the region 2pter-p24." [DOID:0110232, PMID:15933805]
subset: gard_rare {source="GARD:18233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 29" EXACT [MONDO:Lexical, OMIM:115800]
synonym: "cataract 29 coralliform" EXACT [DOID:0110232]
synonym: "cataract 29, coralliform" RELATED [OMIM:115800]
synonym: "cataract type 29" EXACT [DOID:0110232, MONDORULE:2]
synonym: "CTRCT29" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115800]
xref: DOID:0110232 {source="MONDO:equivalentTo"}
xref: GARD:18233 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110232"}
xref: MEDGEN:811739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115800 {source="MONDO:equivalentTo", source="DOID:0110232"}
xref: Orphanet:91492 {source="OMIM:115800"}
xref: Orphanet:98990 {source="OMIM:115800", source="DOID:0110232"}
xref: UMLS:C3805409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811739"}
is_a: MONDO:0005129 {source="DOID:0110232", source="MONDO:Redundant", source="OMIM:115800"} ! cataract

[Term]
id: MONDO:0007283
name: cataract 42
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series. {source="OMIM:115900"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35." EXACT [DOID:0110237, PMID:23508780]
synonym: "cataract 42" EXACT [MONDO:Lexical, OMIM:115900]
synonym: "cataract type 42" EXACT [DOID:0110237, MONDORULE:2, OMIM:115900]
synonym: "CRYBA2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT42" EXACT ABBREVIATION [DOID:0110237, MONDO:Lexical, OMIM:115900]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA2" EXACT [MONDO:design_pattern]
xref: DOID:0110237 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110237"}
xref: MEDGEN:859891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115900 {source="DOID:0110237", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:115900"}
xref: UMLS:C4011454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:859891"}
is_a: MONDO:0005129 {source="DOID:0110237", source="MONDO:Redundant", source="OMIM:115900"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2395 ! CRYBA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2395 {source="MONDO:mim2gene_medgen"} ! CRYBA2

[Term]
id: MONDO:0007284
name: cataract 20 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract (disease) caused by mutation in CRYGS" EXACT []
synonym: "cataract 20, multiple types" RELATED [MONDO:Lexical, OMIM:116100]
synonym: "CRYGS cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT20" EXACT ABBREVIATION [DOID:0110240, MONDO:Lexical, OMIM:116100]
xref: DOID:0110240 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110240"}
xref: MEDGEN:101117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:116100 {source="MONDO:equivalentTo", source="DOID:0110240"}
xref: Orphanet:91492 {source="OMIM:116100"}
xref: Orphanet:98994 {source="OMIM:116100", source="MONDO:directSiblingOf"}
xref: UMLS:C0524524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101117"}
is_a: MONDO:0005129 {source="DOID:0110240", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116100"} ! cataract
is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2417 ! CRYGS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2417 {source="MONDO:mim2gene_medgen"} ! CRYGS

[Term]
id: MONDO:0007285
name: cataract 1 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15047", source="MONDO:GARD"}
subset: rare
synonym: "CAE1" NARROW ABBREVIATION [DOID:0110231]
synonym: "cataract (disease) caused by mutation in GJA8" EXACT []
synonym: "cataract 1, multiple types" RELATED [MONDO:Lexical, OMIM:116200]
synonym: "cataract 1, multiple types, with or without microcornea" EXACT [DOID:0110231, OMIM:116200]
synonym: "cataract, Duffy-linked" RELATED [OMIM:116200]
synonym: "cataract, zonular pulverulent, 1" RELATED [OMIM:116200]
synonym: "CTRCT1" EXACT ABBREVIATION [DOID:0110231, MONDO:Lexical, OMIM:116200]
synonym: "CZP1" NARROW ABBREVIATION [DOID:0110231]
synonym: "Duffy linked cataract" EXACT [DOID:0110231]
synonym: "GJA8 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "zonular pulverulent cataract 1" NARROW [DOID:0110231]
xref: DOID:0110231 {source="MONDO:equivalentTo"}
xref: GARD:15047 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110231"}
xref: MEDGEN:349374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566158 {source="MONDO:equivalentTo"}
xref: OMIM:116200 {source="MONDO:equivalentTo", source="DOID:0110231"}
xref: Orphanet:1377 {source="OMIM:116200", source="MONDO:relatedTo"}
xref: Orphanet:91492 {source="OMIM:116200", source="MONDO:relatedTo"}
xref: Orphanet:98984 {source="OMIM:116200", source="MONDO:directSiblingOf"}
xref: UMLS:C1861828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349374"}
is_a: MONDO:0005129 {source="DOID:0110231", source="MESH:C566158", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116200"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4281 ! GJA8
relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cataract - microcornea syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4281 {source="MONDO:mim2gene_medgen"} ! GJA8

[Term]
id: MONDO:0007286
name: cataract 30
def: "A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13." [DOID:0110248, PMID:19126778]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 30" EXACT [MONDO:Lexical, OMIM:116300]
synonym: "cataract 30 pulverulent" EXACT [DOID:0110248]
synonym: "cataract 30, multiple types" RELATED [OMIM:116300]
synonym: "cataract 30, pulverulent" RELATED [OMIM:116300]
synonym: "cataract Coppock-like" EXACT [DOID:0110248]
synonym: "cataract type 30" EXACT [DOID:0110248, MONDORULE:2, OMIM:116300]
synonym: "CTRCT30" EXACT ABBREVIATION [DOID:0110248, MONDO:Lexical, OMIM:116300]
synonym: "dusty cataract" RELATED EXCLUDE [DOID:0110248]
xref: DOID:0110248 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110248"}
xref: MEDGEN:811741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566157 {source="MONDO:equivalentTo"}
xref: OMIM:116300 {source="DOID:0110248", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:116300"}
xref: Orphanet:98984 {source="DOID:0110248", source="OMIM:116300"}
xref: UMLS:C3805411 {source="MEDGEN:811741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110248", source="MESH:C566157", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116300"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: MONDO:0020377 ! early-onset partial cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12692 ! VIM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12692 {source="MONDO:mim2gene_medgen"} ! VIM

[Term]
id: MONDO:0007287
name: cataract 41
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 41" EXACT [MONDO:Lexical, OMIM:116400]
synonym: "cataract 41, congenital nuclear type" RELATED [OMIM:116400]
synonym: "cataract type 41" EXACT [DOID:0110241, MONDORULE:2, OMIM:116400]
synonym: "congenital nuclear type cataract 41" EXACT [DOID:0110241]
synonym: "CTRCT41" EXACT ABBREVIATION [DOID:0110241, MONDO:Lexical, OMIM:116400]
synonym: "early-onset non-syndromic cataract caused by mutation in WFS1" EXACT [MONDO:design_pattern]
synonym: "WFS1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110241 {source="MONDO:equivalentTo"}
xref: GARD:18234 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110241"}
xref: MEDGEN:811742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:116400 {source="MONDO:equivalentTo", source="DOID:0110241"}
xref: Orphanet:91492 {source="OMIM:116400"}
xref: Orphanet:98991 {source="OMIM:116400"}
xref: UMLS:C3805412 {source="MEDGEN:811742", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110241", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116400"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
is_a: MONDO:0020376 {source="Orphanet:98991/btnt"} ! early-onset nuclear cataract
is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract
is_a: MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt"} ! early-onset zonular cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 ! WFS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 {source="MONDO:mim2gene_medgen"} ! WFS1

[Term]
id: MONDO:0007288
name: cataract 6 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related cortical cataract 2" NARROW [DOID:0110229]
synonym: "ARCC2" NARROW ABBREVIATION [DOID:0110229]
synonym: "cataract (disease) caused by mutation in EPHA2" EXACT []
synonym: "cataract 6, multiple types" RELATED [MONDO:Lexical, OMIM:116600]
synonym: "cataract, age-related cortical, 2" RELATED [OMIM:116600]
synonym: "cataract, posterior polar, 1" RELATED [OMIM:116600]
synonym: "CTPA" RELATED ABBREVIATION [GARD:0010234]
synonym: "CTPP" RELATED ABBREVIATION [GARD:0010234]
synonym: "CTPP1" NARROW ABBREVIATION [DOID:0110229]
synonym: "CTRCT6" EXACT ABBREVIATION [DOID:0110229, MONDO:Lexical, OMIM:116600]
synonym: "EPHA2 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "posterior polar cataract 1" NARROW [DOID:0110229]
synonym: "Posterior polar cataract, 1" RELATED [GARD:0010234]
xref: DOID:0110229 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110229"}
xref: MEDGEN:396229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:116600 {source="DOID:0110229", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:116600"}
xref: Orphanet:98993 {source="MONDO:relatedTo", source="OMIM:116600"}
xref: Orphanet:98994 {source="OMIM:116600", source="MONDO:directSiblingOf"}
xref: UMLS:C1861825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396229"}
is_a: MONDO:0005129 {source="DOID:0110229", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116600"} ! cataract
is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3386 ! EPHA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3386 {source="MONDO:mim2gene_medgen"} ! EPHA2

[Term]
id: MONDO:0007289
name: cataract 13 with adult I phenotype
def: "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." [DOID:0110242, PMID:11739194]
comment: Not in the OMIM series. {source="OMIM:116700"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract 13 with ADULT I phenotype" RELATED [OMIM:116700]
synonym: "cataract 13 with adult I phenotype" EXACT [MONDO:Lexical, OMIM:116700]
synonym: "CTRCT13" EXACT ABBREVIATION [DOID:0110242, MONDO:Lexical, OMIM:116700]
xref: DOID:0110242 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110242"}
xref: MEDGEN:811703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:116700 {source="MONDO:equivalentTo", source="DOID:0110242"}
xref: Orphanet:91492 {source="OMIM:116700"}
xref: UMLS:C3805373 {source="MEDGEN:811703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110242", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116700"} ! cataract
is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4204 {source="MONDO:mim2gene_medgen"} ! GCNT2

[Term]
id: MONDO:0007290
name: cataract 5 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract (disease) caused by mutation in HSF4" EXACT []
synonym: "cataract 5, multiple types" RELATED [MONDO:Lexical, OMIM:116800]
synonym: "cataract, lamellar" RELATED [OMIM:116800]
synonym: "cataract, Marner type" RELATED [OMIM:116800]
synonym: "CTRCT5" EXACT ABBREVIATION [DOID:0110255, MONDO:Lexical, OMIM:116800]
synonym: "HSF4 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110255 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110255"}
xref: MEDGEN:78608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535342 {source="MONDO:equivalentTo"}
xref: OMIM:116800 {source="MONDO:equivalentTo", source="DOID:0110255"}
xref: Orphanet:91492 {source="OMIM:116800"}
xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:116800"}
xref: UMLS:C0266537 {source="MONDO:equivalentTo", source="MEDGEN:78608", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110255", source="MESH:C535342", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:116800"} ! cataract
is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5227 ! HSF4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5227 {source="MONDO:mim2gene_medgen"} ! HSF4

[Term]
id: MONDO:0007291
name: obsolete familial cerebral cavernous malformation
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2940" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0031037

[Term]
id: MONDO:0007292
name: obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3691" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004914

[Term]
id: MONDO:0007293
name: leukocyte adhesion deficiency 1
def: "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." [Orphanet:99842]
subset: gard_rare {source="GARD:6893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99842"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ITGB2 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "lad" RELATED [MONDO:Lexical, OMIM:116920]
synonym: "lad 1" RELATED [GARD:0006893]
synonym: "lad-I" EXACT [Orphanet:99842]
synonym: "lad-type I" EXACT [NCIT:C4689]
synonym: "LAD1" EXACT ABBREVIATION [DOID:0110910]
synonym: "Lad1" RELATED [OMIM:116920]
synonym: "leukocyte adhesion deficiency" BROAD [OMIM:116920, OMIM:genemap2]
synonym: "leukocyte adhesion deficiency 1" EXACT CLINGEN_LABEL []
synonym: "leukocyte adhesion deficiency caused by mutation in ITGB2" EXACT [MONDO:design_pattern]
synonym: "leukocyte adhesion deficiency type 1" EXACT [DOID:0110910, MONDORULE:1]
synonym: "leukocyte adhesion deficiency type I" EXACT [DOID:0110910]
synonym: "leukocyte adhesion deficiency, type 1" RELATED [OMIM:116920]
synonym: "leukocyte adhesion deficiency, type I" RELATED [MONDO:Lexical, OMIM:116920]
synonym: "LFA 1 immunodeficiency" RELATED [GARD:0006893]
synonym: "LFA-I deficiency" EXACT [NCIT:C4689]
synonym: "LFA1 immunodeficiency" EXACT [DOID:0110910]
synonym: "Lfa1 immunodeficiency" RELATED [OMIM:116920]
synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [DOID:0110910, OMIM:116920]
xref: DOID:0110910 {source="MONDO:equivalentTo"}
xref: GARD:6893 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:99842/attributed", source="Orphanet:99842/ntbt", source="Orphanet:99842"}
xref: MEDGEN:98310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535887 {source="Orphanet:99842", source="MONDO:equivalentTo", source="Orphanet:99842/e"}
xref: NCIT:C4689 {source="MONDO:equivalentTo"}
xref: OMIM:116920 {source="DOID:0110910", source="Orphanet:99842", source="MONDO:equivalentTo", source="Orphanet:99842/e"}
xref: Orphanet:2968 {source="OMIM:116920"}
xref: Orphanet:99842 {source="DOID:0110910", source="MONDO:equivalentTo", source="OMIM:116920"}
xref: SCTID:234582006 {source="MONDO:equivalentTo"}
xref: UMLS:C0398738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98310"}
is_a: MONDO:0017570 {source="DOID:0110910", source="MONDO:Redundant", source="NCIT:C4689", source="Orphanet:99842"} ! leukocyte adhesion deficiency
intersection_of: MONDO:0017570 ! leukocyte adhesion deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6155 ! ITGB2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:116920", source="Orphanet:99842"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6155 {source="MONDO:mim2gene_medgen"} ! ITGB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007294
name: central core myopathy
def: "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." [NCIT:P378]
subset: gard_rare {source="GARD:6014", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597"}
subset: orphanet_rare {source="Orphanet:597"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:117000]
synonym: "Cco" RELATED [OMIM:117000]
synonym: "central core disease" EXACT [DOID:3529]
synonym: "central CORE disease of muscle" RELATED [MONDO:Lexical, OMIM:117000]
synonym: "minicore myopathy, moderate, with hand involvement" RELATED [OMIM:117000]
synonym: "multicore myopathy, moderate, with hand involvement" RELATED [OMIM:117000]
synonym: "multiminicore disease, moderate, with hand involvement" RELATED [OMIM:117000]
synonym: "muscle core disease" RELATED [GARD:0006014]
synonym: "muscular central core disease" RELATED [GARD:0006014]
synonym: "myopathy, central core" RELATED [GARD:0006014]
synonym: "myopathy, central fibrillar" RELATED [GARD:0006014]
synonym: "neuromuscular disease, congenital, with uniform type 1 Fiber" RELATED [OMIM:117000]
synonym: "neuromuscular disease, congenital, with uniform type 1 Fibre" RELATED OMO:0003005 []
synonym: "Shy-Magee syndrome" RELATED [GARD:0006014]
xref: DOID:3529 {source="MONDO:equivalentTo", source="EFO:1000855"}
xref: EFO:1000855 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6014 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:597/ntbt", source="DOID:3529", source="Orphanet:597/inclusion", source="Orphanet:597"}
xref: icd11.foundation:2065822840 {source="MONDO:equivalentTo", source="Orphanet:597", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:199773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020512 {source="MONDO:equivalentTo", source="DOID:3529", source="EFO:1000855"}
xref: NANDO:1200479 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200870 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C83010 {source="MONDO:equivalentTo", source="DOID:3529"}
xref: OMIM:117000 {source="Orphanet:597/e", source="MONDO:equivalentTo", source="DOID:3529", source="Orphanet:597"}
xref: Orphanet:178145 {source="OMIM:117000", source="MONDO:relatedTo"}
xref: Orphanet:597 {source="OMIM:117000", source="MONDO:equivalentTo"}
xref: Orphanet:598 {source="OMIM:117000", source="MONDO:directSiblingOf"}
xref: SCTID:43152001 {source="MONDO:equivalentTo", source="DOID:3529"}
xref: UMLS:C0751951 {source="MEDGEN:199773", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002921 {source="DOID:3529", source="MESH:D020512", source="MONDO:Redundant", source="MONDO:indirect"} ! congenital structural myopathy
is_a: MONDO:0018943 {source="NCIT:C83010"} ! myofibrillar myopathy
is_a: MONDO:0019952 {source="OMIM:117000"} ! congenital myopathy
is_a: MONDO:0100196 {source="PMID:23413262", source="https://clinicalgenome.org/affiliation/40031/", source="https://github.com/monarch-initiative/mondo/issues/1922"} ! TPM2-related myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="MONDO:mim2gene_medgen"} ! RYR1

[Term]
id: MONDO:0007295
name: childhood epilepsy with centrotemporal spikes
def: "A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit." [https://epilepsydiagnosis.org/syndrome/ects-overview.html]
comment: Childhood epilepsy with centrotemporal spikes, atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-and-wave during sleep and Landau Kleffner syndrome are syndromes that have in common certain EEG features, with variable severity of focal seizures and neurocognitive impairment. They may be considered as a spectrum, an individual child may transition from one of these syndromes to another over time.
subset: gard_rare {source="GARD:10287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1945"}
subset: orphanet_rare {source="Orphanet:1945"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCECTS" EXACT DEPRECATED [DOID:3329, Wikipedia:Rolandic_epilepsy]
synonym: "BECRS" EXACT ABBREVIATION [Orphanet:1945]
synonym: "BECTS" EXACT DEPRECATED [Orphanet:1945]
synonym: "benign childhood epilepsy with centrotemporal spike" EXACT DEPRECATED [DOID:3329]
synonym: "benign childhood epilepsy with centrotemporal spikes" EXACT DEPRECATED [NCIT:C116538]
synonym: "benign epilepsy of childhood with centrotemporal spikes" EXACT DEPRECATED [Orphanet:1945]
synonym: "benign epilepsy of childhood with centrotemporal spikes (BECCT)" RELATED DEPRECATED [GARD:0010287]
synonym: "benign epilepsy with centro-temporal spikes (BECTS)" RELATED DEPRECATED [GARD:0010287]
synonym: "benign epilepsy with centrotemporal spikes" EXACT DEPRECATED [MONDO:0002611]
synonym: "benign familial epilepsy of childhood with rolandic spikes" EXACT DEPRECATED [Orphanet:1945]
synonym: "benign Rolandic epilepsy" EXACT DEPRECATED [DOID:3329, OMIM:117100, Orphanet:1945]
synonym: "benign Rolandic epilepsy (BRE)" EXACT DEPRECATED [GARD:0010287]
synonym: "benign Rolandic epilepsy of childhood (BREC)" EXACT DEPRECATED [GARD:0010287]
synonym: "BRE" EXACT DEPRECATED [Orphanet:1945]
synonym: "centralopathic epilepsy" EXACT [OMIM:117100]
synonym: "centrotemporal epilepsy" EXACT [OMIM:117100, Orphanet:1945]
synonym: "centrotemporal epilepsy, isolated cases" EXACT [OMIM:117100, OMIM:genemap2]
synonym: "Rolandic epilepsy" EXACT DEPRECATED [DOID:3329]
synonym: "sylvan seizures" EXACT [DOID:3329]
synonym: "temporal-central focal epilepsy" EXACT [OMIM:117100]
xref: DOID:3329 {source="MONDO:equivalentTo"}
xref: GARD:10287 {source="MONDO:GARD"}
xref: ICD10CM:G40.0 {source="Orphanet:1945", source="Orphanet:1945/attributed", source="Orphanet:1945/ntbt"}
xref: icd11.foundation:1046279423 {source="MONDO:equivalentTo", source="Orphanet:1945", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019305 {source="DOID:3329"}
xref: NCIT:C116538 {source="MONDO:equivalentTo"}
xref: OMIM:117100 {source="Orphanet:1945/e", source="GARD:0010287", source="MONDO:equivalentTo", source="Orphanet:1945"}
xref: Orphanet:1945 {source="OMIM:117100", source="MONDO:equivalentTo"}
xref: SCTID:44145005 {source="MONDO:equivalentTo"}
xref: UMLS:C0376532 {source="MEDGEN:138210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000414 {source="DOID:3329", source="MONDO:Redundant", source="MONDO:indirect"} ! childhood electroclinical syndrome
is_a: MONDO:0017704 {source="Orphanet:1945"} ! familial partial epilepsy
is_a: MONDO:0020072 {source="Orphanet:1945/inferred", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
relationship: excluded_subClassOf MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005027 {source="DOID:3329/inferred", source="NCIT:C116538", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0009509 {source="https://orcid.org/0000-0001-5208-3432"} ! Landau-Kleffner syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2545" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://epilepsydiagnosis.org/syndrome/ects-overview.html" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre" xsd:anyURI {source="GARD:0010287"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/ects-overview.html" xsd:anyURI

[Term]
id: MONDO:0007296
name: spinocerebellar ataxia type 31
def: "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." [Orphanet:217012]
subset: gard_rare {source="GARD:9975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217012"}
subset: orphanet_rare {source="Orphanet:217012"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:117210, Orphanet:217012]
synonym: "spinocerebellar ataxia 16q22-linked" RELATED [GARD:0009975]
synonym: "spinocerebellar ataxia 31" RELATED [MONDO:Lexical, OMIM:117210]
synonym: "spinocerebellar ataxia type 31" EXACT [MONDORULE:2, OMIM:117210]
synonym: "spinocerebellar ataxia, 16Q22-linked" RELATED [OMIM:117210]
xref: DOID:0050980 {source="MONDO:equivalentTo"}
xref: GARD:9975 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:217012", source="Orphanet:217012/attributed", source="Orphanet:217012/ntbt"}
xref: MEDGEN:348439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566146 {source="MONDO:equivalentTo"}
xref: NANDO:1200044 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C176901 {source="MONDO:equivalentTo"}
xref: OMIM:117210 {source="DOID:0050980", source="Orphanet:217012/e", source="MONDO:equivalentTo", source="Orphanet:217012"}
xref: Orphanet:217012 {source="OMIM:117210", source="MONDO:equivalentTo"}
xref: SCTID:715826005 {source="MONDO:equivalentTo"}
xref: UMLS:C1861736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348439"}
is_a: MONDO:0019793 {source="Orphanet:217012"} ! autosomal dominant cerebellar ataxia type III
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24160 {source="MONDO:mim2gene_medgen"} ! BEAN1

[Term]
id: MONDO:0007297
name: ADan amyloidosis
def: "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." [DOID:0070030]
subset: gard_rare {source="GARD:9169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97346"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" EXACT [DOID:0070030]
synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" RELATED [OMIM:117300]
synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 2" RELATED [OMIM:117300]
synonym: "cerebral amyloid angiopathy, ITM2B-related, type 2" EXACT [MONDORULE:1, OMIM:117300]
synonym: "dementia, familial Danish" RELATED [OMIM:117300]
synonym: "familial Danish dementia" EXACT [DOID:0070030, OMIM:117300]
synonym: "familial dementia, Danish type" EXACT [Orphanet:97346]
synonym: "FDD" EXACT ABBREVIATION [DOID:0070030]
synonym: "Heredopathia Ophthalmootoencephalica" EXACT [DOID:0070030, OMIM:117300]
synonym: "HOOE" EXACT ABBREVIATION [DOID:0070030]
synonym: "ITM2B-related cerebral amyloid angiopathy 2" RELATED [DOID:0070030]
xref: DOID:0070030 {source="MONDO:equivalentTo"}
xref: GARD:9169 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"}
xref: ICD10EXP:I68.0* {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"}
xref: MEDGEN:396208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538209 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e"}
xref: OMIM:117300 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e", source="DOID:0070030"}
xref: Orphanet:97346 {source="OMIM:117300", source="MONDO:equivalentTo"}
xref: UMLS:C1861735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396208"}
is_a: MONDO:0005620 {source="DC-OMIM:117300", source="DOID:0070030"} ! cerebral amyloid angiopathy
is_a: MONDO:0018591 {source="Orphanet:97346"} ! ITM2B amyloidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6174 {source="MONDO:mim2gene_medgen"} ! ITM2B

[Term]
id: MONDO:0007298
name: spinocerebellar ataxia type 29
def: "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." [Orphanet:208513]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:208513"}
subset: orphanet_rare {source="Orphanet:208513"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACV" RELATED ABBREVIATION [GARD:0010480]
synonym: "aplasia of cerebellar vermis" RELATED [OMIM:117360]
synonym: "cerebellar ataxia early-onset nonprogressive" RELATED [GARD:0010480]
synonym: "cerebellar ataxia, congenital nonprogressive, autosomal dominant" RELATED [OMIM:117360]
synonym: "cerebellar vermis aplasia" RELATED [OMIM:117360]
synonym: "congenital nonprogressive spinocerebellar ataxia" EXACT [Orphanet:208513]
synonym: "SCA29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:117360, Orphanet:208513]
synonym: "spinocerebellar ataxia 29" RELATED [MONDO:Lexical, OMIM:117360]
synonym: "spinocerebellar ataxia 29, congenital nonprogressive" EXACT [OMIM:117360, OMIM:genemap2]
synonym: "spinocerebellar ataxia type 29" EXACT [MONDORULE:2, OMIM:117360]
xref: DOID:0050978 {source="MONDO:equivalentTo"}
xref: GARD:10480 {source="MONDO:GARD"}
xref: ICD10CM:G11.0 {source="Orphanet:208513/attributed", source="Orphanet:208513/ntbt", source="Orphanet:208513"}
xref: MEDGEN:350085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537206 {source="MONDO:equivalentTo"}
xref: OMIM:117360 {source="Orphanet:208513/e", source="MONDO:equivalentTo", source="DOID:0050978", source="Orphanet:208513"}
xref: Orphanet:208513 {source="MONDO:equivalentTo", source="OMIM:117360"}
xref: SCTID:715825009 {source="MONDO:equivalentTo"}
xref: UMLS:C1861732 {source="MEDGEN:350085", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:208513"} ! autosomal dominant cerebellar ataxia type I
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007299
name: obsolete Sotos syndrome 1
xref: GARD:15048 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6321" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019349

[Term]
id: MONDO:0007300
name: cerebral sarcoma
def: "A sarcoma involving a telencephalon." [MONDO:patterns/sarcoma]
subset: gard_rare {source="GARD:10073", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebral sarcoma" EXACT [OMIM:117600]
synonym: "sarcoma of telencephalon" EXACT [MONDO:patterns/sarcoma]
synonym: "telencephalon sarcoma" EXACT [MONDO:patterns/location]
xref: GARD:10073 {source="MONDO:GARD"}
xref: MEDGEN:350081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537946 {source="MONDO:equivalentTo"}
xref: OMIM:117600 {source="MONDO:equivalentTo"}
xref: Orphanet:2030 {source="OMIM:117600"}
xref: UMLS:C1861714 {source="MEDGEN:350081", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001893 ! telencephalon
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10073/cerebral-sarcoma" xsd:anyURI {source="GARD:0010073"}

[Term]
id: MONDO:0007301
name: cerebrocostomandibular syndrome
def: "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." [Orphanet:1393]
subset: gard_rare {source="GARD:6026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:914"}
subset: ordo_disorder {source="Orphanet:1393"}
subset: ordo_malformation_syndrome {source="Orphanet:1393"}
subset: orphanet_rare {source="Orphanet:1393"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCM syndrome" RELATED [GARD:0006026]
synonym: "CCMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:117650]
synonym: "cerebro-costo-mandibular syndrome" RELATED [GARD:0006026]
synonym: "CEREBROCOSTOMANDIBULAR syndrome" RELATED [OMIM:117650]
synonym: "cerebrocostomandibular syndrome" EXACT [MONDO:Lexical, OMIM:117650]
synonym: "rib Gap defects with micrognathia" RELATED [OMIM:117650]
xref: DOID:0111248 {source="MONDO:equivalentTo"}
xref: GARD:6026 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1393/attributed", source="Orphanet:1393/ntbt", source="Orphanet:1393"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562538 {source="MONDO:equivalentTo"}
xref: NORD:914 {source="MONDO:NORD"}
xref: OMIM:117650 {source="Orphanet:1393/e", source="MONDO:equivalentTo", source="Orphanet:1393"}
xref: Orphanet:1393 {source="OMIM:117650", source="MONDO:equivalentTo"}
xref: SCTID:51780007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120537"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015160 {source="Orphanet:1393"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11153 {source="MONDO:mim2gene_medgen"} ! SNRPB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007302
name: cervical hypertrichosis with underlying kyphoscoliosis
synonym: "cervical hypertrichosis with underlying kyphoscoliosis" EXACT [OMIM:117850]
synonym: "hypertrichosis, posterior cervical, with underlying kyphoscoliosis" RELATED [OMIM:117850]
xref: MEDGEN:349343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566142 {source="MONDO:equivalentTo"}
xref: OMIM:117850 {source="MONDO:equivalentTo"}
xref: UMLS:C1861695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349343"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007303
name: cervical rib disease
def: "A rib that is attached to a cervical vertebra or enlarged transverse processes." [https://orcid.org/0000-0002-6601-2165, OMIM:117900]
comment: About 1 in 200 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. {source="https://patient.info/bones-joints-muscles/cervical-rib-thoracic-outlet-syndrome"}
synonym: "cervical rib" EXACT [OMIM:117900]
synonym: "cervical rib syndrome" EXACT [MONDO:0006695]
xref: HP:0000891 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0002-6601-2165"}
xref: ICD9:756.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10008301 {source="EFO:1000861"}
xref: MEDGEN:102359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002573 {source="EFO:1000861", source="MONDO:equivalentTo"}
xref: NCIT:C158329 {source="MONDO:equivalentTo"}
xref: OMIM:117900 {source="MONDO:equivalentTo"}
xref: SCTID:72535009 {source="MONDO:equivalentTo"}
xref: UMLS:C0158779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102359"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005381 {source="MONDO:Redundant"} ! bone disorder
disjoint_from: UBERON:0018144 {source="https://orcid.org/0000-0002-6601-2165"} ! cervical rib
relationship: disease_has_location UBERON:0002228 ! rib
property_value: IAO:0000233 "https://github.com/monarch-initiative/monarch-disease-ontology/issues/405" xsd:anyURI

[Term]
id: MONDO:0007304
name: cervical vertebral Bridge
synonym: "cervical vertebral Bridge" EXACT [OMIM:118000]
xref: MEDGEN:348426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:118000 {source="MONDO:equivalentTo"}
xref: UMLS:C1861694 {source="MONDO:equivalentTo", source="MEDGEN:348426", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007305
name: cervical vertebral dysplasia
synonym: "cervical vertebral dysplasia" EXACT [MONDO:ambiguous, OMIM:118005]
synonym: "cervical vertebral dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0008469 {source="MONDO:otherHierarchy"}
xref: MEDGEN:396199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566140 {source="MONDO:equivalentTo"}
xref: OMIM:118005 {source="MONDO:equivalentTo"}
xref: UMLS:C1861693 {source="MONDO:equivalentTo", source="MEDGEN:396199", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "cervical vertebral dysplasia (disease)" xsd:string

[Term]
id: MONDO:0007306
name: Klippel-Feil syndrome 1, autosomal dominant
def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1336"}
subset: rare
synonym: "cervical vertebral fusion, autosomal dominant" RELATED [OMIM:118100]
synonym: "GDF6 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF6" EXACT [MONDO:design_pattern]
synonym: "Kfs" RELATED [OMIM:118100]
synonym: "KFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118100]
synonym: "Klippel-Feil Syndrome" BROAD [NORD:1336]
synonym: "Klippel-FEIL syndrome 1, autosomal dominant" RELATED [OMIM:118100]
synonym: "Klippel-Feil syndrome 1, autosomal dominant" EXACT [MONDO:Lexical, OMIM:118100]
xref: DOID:0080589 {source="MONDO:equivalentTo"}
xref: GARD:15049 {source="MONDO:GARD"}
xref: MEDGEN:396196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536887 {source="MONDO:equivalentTo"}
xref: NORD:1336 {source="MONDO:NORD"}
xref: OMIM:118100 {source="MONDO:equivalentTo"}
xref: Orphanet:2345 {source="OMIM:118100"}
xref: UMLS:C1861689 {source="MEDGEN:396196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001029 {source="MESH:C536887", source="MONDO:Redundant", source="OMIM:118100"} ! Klippel-Feil syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 {source="MONDO:mim2gene_medgen"} ! GDF6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007307
name: Charcot-Marie-Tooth disease type 1B
def: "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." [OMIM:118200]
subset: gard_rare {source="GARD:1246", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101082"}
subset: orphanet_rare {source="Orphanet:101082"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" EXACT [DOID:0110152]
synonym: "Charcot Marie Tooth disease type 1B" RELATED [GARD:0001246]
synonym: "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" EXACT [DOID:0110152]
synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" RELATED [OMIM:118200]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" RELATED [MONDO:Lexical, OMIM:118200]
synonym: "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy" RELATED [OMIM:118200]
synonym: "Charcot-Marie-Tooth disease, type 1B" EXACT [OMIM:118200, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 1B" EXACT [DOID:0110152]
synonym: "Charcot-Marie-Tooth neuropathy, type 1B" RELATED [OMIM:118200]
synonym: "CMT 1B" RELATED [GARD:0001246]
synonym: "CMT1B" EXACT ABBREVIATION [DOID:0110152, MONDO:Lexical, OMIM:118200, Orphanet:101082]
synonym: "hereditary motor and sensory neuropathy 1" RELATED [OMIM:118200]
synonym: "hereditary motor and sensory neuropathy 1B" RELATED [OMIM:118200]
synonym: "hereditary motor and sensory neuropathy IB" EXACT [DOID:0110152]
synonym: "HMSN 1B" RELATED [GARD:0001246]
synonym: "HMSN IB" EXACT ABBREVIATION [DOID:0110152]
synonym: "HMSN1" RELATED ABBREVIATION [OMIM:118200]
synonym: "HMSN1B" EXACT ABBREVIATION [DOID:0110152, OMIM:118200]
synonym: "MPZ Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "peroneal muscular atrophy" RELATED EXCLUDE [DOID:0110152]
xref: DOID:0110152 {source="MONDO:equivalentTo"}
xref: GARD:1246 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110152", source="Orphanet:101082/attributed", source="Orphanet:101082/ntbt", source="Orphanet:101082"}
xref: MEDGEN:124377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118782 {source="MONDO:equivalentTo"}
xref: OMIM:118200 {source="Orphanet:101082/e", source="MONDO:equivalentTo", source="DOID:0110152", source="Orphanet:101082"}
xref: Orphanet:101082 {source="OMIM:118200", source="MONDO:equivalentTo", source="DOID:0110152"}
xref: UMLS:C0270912 {source="MEDGEN:124377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110152/inferred", source="MONDO:Redundant", source="NCIT:C118782", source="OMIM:118200", source="Orphanet:101082/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019011 {source="DOID:0110152", source="MONDO:Redundant", source="Orphanet:101082"} ! Charcot-Marie-Tooth disease type 1
intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 ! MPZ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 {source="MONDO:mim2gene_medgen"} ! MPZ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007308
name: Charcot-Marie-Tooth disease type 2A1
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." [Orphanet:99946]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1248", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99946"}
subset: orphanet_rare {source="Orphanet:99946"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1" EXACT [DOID:0110154]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A1" RELATED [Orphanet:99946]
synonym: "Charcot Marie Tooth disease type 2A" RELATED [GARD:0001248]
synonym: "Charcot-Marie-Tooth disease neuronal type 2A1" EXACT [DOID:0110154]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2A" EXACT [NCIT:C134952]
synonym: "Charcot-Marie-Tooth disease type 2A1" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" RELATED [OMIM:118210]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A" RELATED [GARD:0001248]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1" RELATED [MONDO:Lexical, OMIM:118210]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A" RELATED [GARD:0001248]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A1" RELATED [OMIM:118210]
synonym: "Charcot-Marie-Tooth disease, type 2A1" EXACT [OMIM:118210, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2A1" EXACT [DOID:0110154]
synonym: "Charcot-Marie-Tooth neuropathy, type 2A1" RELATED [OMIM:118210]
synonym: "CMT 2A" RELATED [GARD:0001248]
synonym: "CMT2A" EXACT ABBREVIATION [NCIT:C134952]
synonym: "CMT2A1" EXACT ABBREVIATION [DOID:0110154, MONDO:Lexical, OMIM:118210, Orphanet:99946]
synonym: "hereditary motor and sensory neuropathy 2 A" RELATED [GARD:0001248]
synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [DOID:0110154]
synonym: "hereditary motor and sensory neuropathy IIa1" RELATED [OMIM:118210]
synonym: "HMSN IIA" RELATED [GARD:0001248]
synonym: "HMSN IIA1" EXACT [DOID:0110154]
synonym: "HMSN IIa1" RELATED [OMIM:118210]
synonym: "HMSN2A1" EXACT ABBREVIATION [DOID:0110154, OMIM:118210]
synonym: "KIF1B Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110154 {source="MONDO:equivalentTo"}
xref: GARD:1248 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99946", source="DOID:0110154", source="Orphanet:99946/attributed", source="Orphanet:99946/ntbt"}
xref: MEDGEN:350076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566138 {source="MONDO:equivalentTo"}
xref: NCIT:C134952 {source="MONDO:equivalentTo"}
xref: NCIT:C150609 {source="MONDO:equivalentTo"}
xref: OMIM:118210 {source="MONDO:equivalentTo", source="Orphanet:99946", source="GARD:0001248", source="DOID:0110154", source="Orphanet:99946/e"}
xref: Orphanet:99946 {source="OMIM:118210", source="MONDO:equivalentTo", source="DOID:0110154"}
xref: SCTID:717016001 {source="MONDO:equivalentTo"}
xref: UMLS:C1861678 {source="MONDO:equivalentTo", source="MEDGEN:350076", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110154/inferred", source="MESH:C566138", source="MONDO:Redundant", source="NCIT:C134952", source="OMIM:118210", source="Orphanet:99946/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110154", source="MONDO:Redundant", source="Orphanet:99946"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16636 ! KIF1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16636 {source="MONDO:mim2gene_medgen"} ! KIF1B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a" xsd:anyURI {source="GARD:0001248"}

[Term]
id: MONDO:0007309
name: Charcot-Marie-Tooth disease type 1A
def: "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." [https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1245", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101081"}
subset: orphanet_rare {source="Orphanet:101081"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A" EXACT [DOID:0110148]
synonym: "Charcot Marie Tooth disease type 1A" RELATED [GARD:0001245]
synonym: "Charcot-Marie-Tooth disease type 1A" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" RELATED [OMIM:118220]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A" RELATED [GARD:0001245, MONDO:Lexical, OMIM:118220]
synonym: "Charcot-Marie-Tooth disease, type 1A" EXACT [OMIM:118220, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 1A" EXACT [DOID:0110148]
synonym: "Charcot-Marie-Tooth neuropathy, type 1A" RELATED [OMIM:118220]
synonym: "Charcot-Marie-Tooth syndrome type 1A" EXACT [DECIPHER:29]
synonym: "CMT 1A" RELATED [GARD:0001245]
synonym: "CMT1A" EXACT ABBREVIATION [DECIPHER:29, DOID:0110148, MONDO:Lexical, OMIM:118220, Orphanet:101081]
synonym: "hereditary motor and sensory neuropathy 1A" EXACT [DOID:0110148, OMIM:118220]
synonym: "HMSN 1A" RELATED [GARD:0001245]
synonym: "HMSN1A" EXACT ABBREVIATION [DOID:0110148, OMIM:118220]
synonym: "microduplication 17p12" EXACT [DOID:0110148, Orphanet:101081]
xref: DECIPHER:29 {source="MONDO:equivalentTo"}
xref: DOID:0110148 {source="MONDO:equivalentTo"}
xref: GARD:1245 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110148", source="Orphanet:101081", source="Orphanet:101081/attributed", source="Orphanet:101081/ntbt"}
xref: MEDGEN:75727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75468 {source="MONDO:equivalentTo"}
xref: OMIM:118220 {source="DOID:0110148", source="MONDO:equivalentTo", source="Orphanet:101081", source="Orphanet:101081/e"}
xref: Orphanet:101081 {source="DOID:0110148", source="MONDO:equivalentTo", source="OMIM:118220"}
xref: UMLS:C0270911 {source="MEDGEN:75727", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110148/inferred", source="MONDO:Redundant", source="NCIT:C75468", source="OMIM:118220", source="Orphanet:101081/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0016950 {source="Orphanet:101081", source="https://orcid.org/0000-0001-5208-3432"} ! partial duplication of the short arm of chromosome 17
is_a: MONDO:0019011 {source="DOID:0110148", source="Orphanet:101081"} ! Charcot-Marie-Tooth disease type 1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9118 {source="MONDO:mim2gene_medgen"} ! PMP22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a" xsd:anyURI {source="GARD:0001245"}

[Term]
id: MONDO:0007310
name: Charcot-Marie-Tooth disease, Guadalajara neuronal type
comment: Editor note: consider relationship to type 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Charcot-Marie-Tooth disease, Guadalajara neuronal type" EXACT [OMIM:118230]
xref: MEDGEN:350075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566137 {source="MONDO:equivalentTo"}
xref: OMIM:118230 {source="MONDO:equivalentTo"}
xref: UMLS:C1861673 {source="MEDGEN:350075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="MESH:C566137"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0007311
name: Charcot-Marie-Tooth disease type 1E
def: "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." [Orphanet:90658]
subset: gard_rare {source="GARD:9190", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90658"}
subset: orphanet_rare {source="Orphanet:90658"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness" EXACT [DOID:0110153]
synonym: "Charcot Marie Tooth disease type 1E" RELATED [GARD:0009190]
synonym: "Charcot-Marie-Tooth disease and deafness" EXACT [DOID:0110153]
synonym: "Charcot-Marie-Tooth disease demyelinating type 1E" EXACT [DOID:0110153]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1E" RELATED [OMIM:118300]
synonym: "Charcot-Marie-Tooth disease, type 1E" EXACT [OMIM:118300, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth disease-deafness" EXACT [DOID:0110153]
synonym: "Charcot-Marie-Tooth disease-deafness syndrome" EXACT [Orphanet:90658]
synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" RELATED [OMIM:118300]
synonym: "CMT 1E" RELATED [GARD:0009190]
synonym: "CMT1E" EXACT ABBREVIATION [DOID:0110153, Orphanet:90658]
xref: DOID:0110153 {source="MONDO:equivalentTo"}
xref: GARD:9190 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:90658/attributed", source="Orphanet:90658/ntbt", source="DOID:0110153", source="Orphanet:90658"}
xref: MEDGEN:501212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537986 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="Orphanet:90658"}
xref: MESH:C538078 {source="Orphanet:90658/e", source="Orphanet:90658"}
xref: OMIM:118300 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="DOID:0110153", source="Orphanet:90658"}
xref: Orphanet:90658 {source="OMIM:118300", source="MONDO:equivalentTo", source="DOID:0110153"}
xref: UMLS:C3495591 {source="MEDGEN:501212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110153/inferred", source="MESH:C537986", source="MONDO:Redundant", source="OMIM:118300", source="Orphanet:90658/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019011 {source="DOID:0110153", source="Orphanet:90658"} ! Charcot-Marie-Tooth disease type 1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9118 {source="MONDO:mim2gene_medgen"} ! PMP22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007312
name: Charcot-Marie-Tooth disease with ptosis and parkinsonism
subset: gard_rare {source="GARD:251", source="MONDO:GARD"}
subset: rare
synonym: "Charcot-Marie-Tooth disease with ptosis and parkinsonism" EXACT [OMIM:118301]
xref: GARD:251 {source="MONDO:GARD"}
xref: MEDGEN:396191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538079 {source="MONDO:equivalentTo"}
xref: OMIM:118301 {source="MONDO:equivalentTo"}
xref: UMLS:C1861668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396191"}
is_a: MONDO:0015626 {source="MESH:C538079/inferred"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0007313
name: cheilitis glandularis
def: "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." [Orphanet:1221]
subset: gard_rare {source="GARD:412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1221"}
subset: orphanet_rare {source="Orphanet:1221"}
subset: rare
synonym: "cheilitis glandularis" EXACT [OMIM:118330]
xref: GARD:412 {source="MONDO:GARD"}
xref: ICD10CM:K13.0 {source="Orphanet:1221/ntbt", source="Orphanet:1221"}
xref: MEDGEN:75626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535921 {source="Orphanet:1221", source="MONDO:equivalentTo", source="Orphanet:1221/e"}
xref: OMIM:118330 {source="Orphanet:1221", source="MONDO:equivalentTo", source="Orphanet:1221/e"}
xref: Orphanet:1221 {source="MONDO:equivalentTo", source="OMIM:118330"}
xref: SCTID:26374003 {source="MONDO:equivalentTo"}
xref: UMLS:C0267034 {source="MEDGEN:75626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis" xsd:anyURI {source="GARD:0000412"}

[Term]
id: MONDO:0007314
name: chemodectoma, intraabdominal, with cutaneous angiolipomas
synonym: "abdominal chemodectomas with cutaneous angiolipomas" RELATED [GARD:0001265]
synonym: "chemodectoma, intraabdominal, with cutaneous angiolipomas" EXACT [OMIM:118350]
xref: MEDGEN:443934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535552 {source="MONDO:equivalentTo"}
xref: OMIM:118350 {source="MONDO:equivalentTo"}
xref: UMLS:C2930928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443934"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007315
name: cherubism
def: "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." [Orphanet:184]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
subset: gard_rare {source="GARD:6036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:184"}
subset: ordo_malformation_syndrome {source="Orphanet:184"}
subset: orphanet_rare {source="Orphanet:184"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cherubism" EXACT [OMIM:118400]
synonym: "CRBM" EXACT ABBREVIATION [Orphanet:184]
synonym: "Crbm" RELATED [OMIM:118400]
synonym: "familial fibrous dysplasia of the jaws" EXACT [NCIT:C84630]
synonym: "familial multilocular cystic disease of the jaws" EXACT [NCIT:C84630]
xref: DOID:1856 {source="MONDO:equivalentTo"}
xref: GARD:6036 {source="MONDO:GARD"}
xref: ICD10CM:M27.8 {source="DOID:1856"}
xref: icd11.foundation:1729261719 {source="MONDO:equivalentTo", source="Orphanet:184"}
xref: ICD9:526.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10070535 {source="Orphanet:184", source="Orphanet:184/e"}
xref: MEDGEN:40219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002636 {source="MONDO:equivalentTo", source="Orphanet:184", source="DOID:1856", source="Orphanet:184/e"}
xref: NANDO:2200444 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84630 {source="MONDO:equivalentTo", source="DOID:1856"}
xref: OMIM:118400 {source="MONDO:equivalentTo", source="Orphanet:184", source="DOID:1856", source="Orphanet:184/e"}
xref: Orphanet:184 {source="OMIM:118400", source="MONDO:equivalentTo"}
xref: SCTID:53432004 {source="DOID:1856"}
xref: SCTID:76098004 {source="MONDO:equivalentTo", source="DOID:1856"}
xref: UMLS:C0008029 {source="MEDGEN:40219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:1856", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015161 {source="Orphanet:184"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015356 {source="NCIT:C84630"} ! hereditary neoplastic syndrome
is_a: MONDO:0019751 ! autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:184", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:118400", source="Orphanet:184"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10825 {source="MONDO:mim2gene_medgen"} ! SH3BP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6036/cherubism" xsd:anyURI {source="GARD:0006036"}

[Term]
id: MONDO:0007316
name: Chiari malformation type I
def: "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." [Orphanet:268882]
subset: gard_rare {source="GARD:9233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268882"}
subset: ordo_morphological_anomaly {source="Orphanet:268882"}
subset: orphanet_rare {source="Orphanet:268882"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arnold-Chiari malformation type 1" EXACT [Orphanet:268882]
synonym: "Arnold-Chiari malformation type I" EXACT [Orphanet:268882]
synonym: "Chiari malformation type 1" EXACT [Orphanet:268882]
synonym: "Chiari malformation type 1 with syringomyelia" RELATED [OMIM:118420]
synonym: "Chiari malformation type I" EXACT [OMIM:118420, Orphanet:268882]
synonym: "Cm1" RELATED [OMIM:118420]
synonym: "Cm1 with syringomyelia" RELATED [OMIM:118420]
xref: GARD:9233 {source="MONDO:GARD"}
xref: ICD10CM:G95.0 {source="Orphanet:268882", source="Orphanet:268882/attributed", source="Orphanet:268882/ntbt"}
xref: icd11.foundation:1383121646 {source="Orphanet:268882", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10056944 {source="Orphanet:268882", source="Orphanet:268882/e"}
xref: MEDGEN:196689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:118420 {source="Orphanet:268882", source="MONDO:equivalentTo", source="Orphanet:268882/e"}
xref: Orphanet:268882 {source="OMIM:118420", source="MONDO:equivalentTo"}
xref: SCTID:253185002 {source="MONDO:equivalentTo"}
xref: UMLS:C0750929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196689"}
is_a: MONDO:0000115 {source="DC-OMIM:118420"} ! Chiari malformation
is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect

[Term]
id: MONDO:0007317
name: obsolete chlorpropamide-alcohol flushing
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "CHLORPROPAMIDE-alcohol flushing" RELATED [OMIM:118430]
synonym: "chlorpropamide-alcohol flushing" EXACT [MONDO:Lexical, OMIM:118430]
synonym: "CPAF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118430]
xref: OMIM:118430 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007318
name: Alagille syndrome
def: "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." [Orphanet:52]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:804", source="MONDO:GARD"}
subset: nord_rare {source="NORD:748", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52"}
subset: ordo_malformation_syndrome {source="Orphanet:52"}
subset: orphanet_rare {source="Orphanet:52"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alagille syndrome" EXACT [OMIM:118450]
synonym: "Alagille-Watson syndrome" EXACT [DOID:9245, Orphanet:52]
synonym: "Arteriohepatic dysplasia" EXACT [Orphanet:52]
synonym: "Cardiovertebral syndrome" RELATED [GARD:0000804]
synonym: "hepatic ductular hypoplasia" RELATED [GARD:0000804]
synonym: "Hepatofacioneurocardiovertebral syndrome" RELATED [GARD:0000804]
synonym: "paucity of interlobular bile ducts" RELATED [GARD:0000804]
synonym: "syndromic bile duct paucity" EXACT [Orphanet:52]
synonym: "Watson Alagille syndrome" RELATED [GARD:0000804]
synonym: "Watson-Miller syndrome" RELATED [GARD:0000804]
xref: DOID:9245 {source="MONDO:equivalentTo"}
xref: GARD:804 {source="MONDO:GARD"}
xref: ICD10CM:Q44.7 {source="Orphanet:52/ntbt", source="DOID:9245", source="Orphanet:52/inclusion", source="Orphanet:52"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10053870 {source="Orphanet:52/e", source="Orphanet:52"}
xref: MEDGEN:39014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016738 {source="Orphanet:52/e", source="MONDO:equivalentTo", source="DOID:9245", source="Orphanet:52"}
xref: NANDO:1200918 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200919 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200931 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35139 {source="MONDO:equivalentTo", source="DOID:9245"}
xref: NORD:748 {source="MONDO:NORD"}
xref: OMIMPS:118450 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:52 {source="MONDO:equivalentTo", source="OMIM:118450"}
xref: SCTID:31742004 {source="MONDO:equivalentTo", source="DOID:9245"}
xref: UMLS:C0085280 {source="MONDO:equivalentTo", source="MEDGEN:39014", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35139", source="PMID:21934706", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0004868 {source="Orphanet:52"} ! biliary tract disorder
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0015161 {source="Orphanet:52"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:118450"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007319
name: chondrocalcinosis 2
def: "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." [Orphanet:1416]
subset: gard_rare {source="GARD:1292", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:930"}
subset: ordo_disorder {source="Orphanet:1416"}
subset: orphanet_rare {source="Orphanet:1416"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "calcium gout" RELATED [OMIM:118600]
synonym: "calcium gout, familial" RELATED [GARD:0001292]
synonym: "calcium pyrophosphate arthropathy" RELATED [OMIM:118600]
synonym: "calcium pyrophosphate arthropathy, familial" RELATED [GARD:0001292]
synonym: "calcium pyrophosphate dihydrate crystal deposition disease" EXACT [Orphanet:1416]
synonym: "calcium pyrophosphate dihydrate deposition disease" RELATED [OMIM:118600]
synonym: "CCAL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118600]
synonym: "chondrocalcinosis 2" EXACT [MONDO:Lexical, OMIM:118600]
synonym: "chondrocalcinosis familial articular" RELATED [GARD:0001292]
synonym: "chondrocalcinosis type 2" EXACT [MONDORULE:1, OMIM:118600]
synonym: "chondrocalcinosis, familial articular" RELATED [OMIM:118600]
synonym: "CPPDD" RELATED ABBREVIATION [GARD:0001292]
synonym: "familial articular chondrocalcinosis" EXACT [Orphanet:1416]
synonym: "familial calcium pyrophosphate deposition" EXACT [Orphanet:1416]
synonym: "Familial Calcium Pyrophosphate Deposition Disease" EXACT [NORD:930]
synonym: "familial calcium pyrophosphate dihydrate deposition disease" EXACT [GARD:0001292]
synonym: "familial CC" EXACT [Orphanet:1416]
synonym: "familial CPPD" EXACT [Orphanet:1416]
synonym: "hereditary articular chondrocalcinosis" EXACT [Orphanet:1416]
synonym: "hereditary calcium pyrophosphate deposition" EXACT [Orphanet:1416]
synonym: "hereditary CC" EXACT [Orphanet:1416]
synonym: "Pseudogout, familial" RELATED [GARD:0001292]
xref: GARD:1292 {source="MONDO:GARD"}
xref: ICD10CM:M11.1 {source="Orphanet:1416/e", source="Orphanet:1416/specific", source="Orphanet:1416"}
xref: MEDGEN:163633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563162 {source="MONDO:equivalentTo"}
xref: NORD:930 {source="MONDO:NORD"}
xref: OMIM:118600 {source="Orphanet:1416/e", source="MONDO:equivalentTo", source="Orphanet:1416"}
xref: Orphanet:1416 {source="OMIM:118600", source="MONDO:equivalentTo"}
xref: UMLS:C0856830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163633"}
is_a: MONDO:0001314 {source="DC-OMIM:118600", source="MESH:C563162"} ! chondrocalcinosis
is_a: MONDO:0005554 {source="Orphanet:1416"} ! rheumatic disorder
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15492 {source="MONDO:mim2gene_medgen"} ! ANKH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007320
name: chondrocalcinosis due to apatite crystal deposition
synonym: "chondrocalcinosis due to apatite crystal deposition" EXACT [OMIM:118610]
synonym: "familial apatite disease" RELATED [OMIM:118610]
xref: MEDGEN:349317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535939 {source="MONDO:equivalentTo"}
xref: OMIM:118610 {source="MONDO:equivalentTo"}
xref: UMLS:C1861580 {source="MONDO:equivalentTo", source="MEDGEN:349317", source="MONDO:MEDGEN"}
is_a: MONDO:0001314 {source="DC-OMIM:118610", source="MESH:C535939"} ! chondrocalcinosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10139/chondrocalcinosis-due-to-apatite-crystal-deposition" xsd:anyURI {source="GARD:0010139"}

[Term]
id: MONDO:0007321
name: autosomal dominant chondrodysplasia punctata
alt_id: MONDO:0022728
def: "Autosomal dominant form of chondrodysplasia punctata." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:1298", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:79344"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia punctata due to vitamin K deficiency" RELATED [OMIM:118650]
synonym: "chondrodysplasia punctata due to warfarin teratogenicity" RELATED [OMIM:118650]
synonym: "chondrodysplasia punctata Sheffield type" EXACT []
synonym: "chondrodysplasia punctata, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:118650]
synonym: "chondrodysplasia punctata, Sheffield type" EXACT [Orphanet:79344]
xref: DOID:0060293 {source="MONDO:equivalentTo"}
xref: GARD:1298 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:79344/attributed", source="Orphanet:79344/ntbt", source="DOID:0060293", source="Orphanet:79344"}
xref: MEDGEN:303176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563248 {source="MONDO:equivalentTo"}
xref: OMIM:118650 {source="Orphanet:79344/e", source="MONDO:equivalentTo", source="DOID:0060293", source="Orphanet:79344"}
xref: Orphanet:79344 {source="GARD:0001298", source="OMIM:118650", source="MONDO:equivalentObsolete", source="DOID:0060293"}
xref: UMLS:C1442935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:303176"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015775 {source="Orphanet:79344"} ! non-rhizomelic chondrodysplasia punctata
intersection_of: MONDO:0019701 ! chondrodysplasia punctata
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type" xsd:anyURI {source="GARD:0001298"}

[Term]
id: MONDO:0007322
name: chondrodysplasia punctata, tibial-metacarpal type
subset: gard_rare {source="GARD:16715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79346"}
subset: ordo_malformation_syndrome {source="Orphanet:79346"}
subset: orphanet_rare {source="Orphanet:79346"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia punctata, Mt type" RELATED [OMIM:118651]
synonym: "chondrodysplasia punctata, tibia-metacarpal type" RELATED [OMIM:118651]
xref: GARD:16715 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:79346/attributed", source="Orphanet:79346/ntbt", source="Orphanet:79346"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562961 {source="MONDO:equivalentTo"}
xref: NANDO:2201359 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:118651 {source="Orphanet:79346/e", source="MONDO:equivalentTo", source="Orphanet:79346"}
xref: Orphanet:79346 {source="OMIM:118651", source="MONDO:equivalentTo"}
xref: SCTID:254083002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98147"}
is_a: MONDO:0007321 ! autosomal dominant chondrodysplasia punctata
is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007323
name: Chondronectin
synonym: "Chondronectin" EXACT [OMIM:118670]
xref: MEDGEN:854532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:118670 {source="MONDO:equivalentTo"}
xref: UMLS:C3887693 {source="MEDGEN:854532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007324
name: obsolete chorea
is_obsolete: true
replaced_by: MONDO:0001595

[Term]
id: MONDO:0007325
name: choreoathetosis, familial inverted
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "choreoathetosis, familial inverted" EXACT [OMIM:118750]
synonym: "infantile choreoathetosis of Fisher" RELATED [OMIM:118750]
xref: MEDGEN:348393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566127 {source="MONDO:equivalentTo"}
xref: OMIM:118750 {source="MONDO:equivalentTo"}
xref: UMLS:C1861569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348393"}
is_a: MONDO:0001595 ! choreatic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007326
name: obsolete paroxysmal nonkinesigenic dyskinesia 1
xref: NANDO:1200519 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3265" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0700089

[Term]
id: MONDO:0007327
name: chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase" EXACT [OMIM:118830]
synonym: "hyperlipoproteinemia, type 1C" RELATED [OMIM:118830]
xref: DOID:0111419 {source="MONDO:equivalentTo"}
xref: MEDGEN:348391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566126 {source="MONDO:equivalentTo"}
xref: OMIM:118830 {source="MONDO:equivalentTo"}
xref: Orphanet:411 {source="MONDO:relatedTo", source="OMIM:118830"}
xref: UMLS:C1861560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348391"}
is_a: MONDO:0018637 {source="Orphanet:444490/btnt"} ! familial chylomicronemia syndrome

[Term]
id: MONDO:0007328
name: choroidal osteoma, bilateral
synonym: "choroidal osteoma, bilateral" EXACT [OMIM:118865]
xref: MEDGEN:396164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566124 {source="MONDO:equivalentTo"}
xref: OMIM:118865 {source="MONDO:equivalentTo"}
xref: UMLS:C1861558 {source="MEDGEN:396164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007329
name: cirrhosis, familial
def: "Cirrhosis in which no causative agent can be identified." [NCIT:C84411]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cirrhosis, cryptogenic" RELATED [OMIM:215600]
synonym: "cirrhosis, familial" EXACT [OMIM:118900, OMIM:215600]
synonym: "cirrhosis, familial, with pulmonary hypertension" RELATED [OMIM:215600]
synonym: "cirrhosis, Noncryptogenic, susceptibility to" RELATED [OMIM:215600]
synonym: "copper toxicosis, idiopathic" RELATED [OMIM:215600]
synonym: "copper-overload cirrhosis" RELATED [OMIM:215600]
synonym: "cryptogenic cirrhosis" EXACT [NCIT:C84411]
synonym: "endemic Tyrolean infantile cirrhosis" RELATED [OMIM:215600]
synonym: "hereditary cirrhosis of liver" EXACT [MONDO:patterns/hereditary]
synonym: "Indian childhood cirrhosis" RELATED [OMIM:215600]
synonym: "Sen syndrome" RELATED [OMIM:215600]
xref: MEDGEN:350049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566123 {source="MONDO:equivalentTo"}
xref: NCIT:C84411 {source="MONDO:equivalentTo"}
xref: OMIM:215600 {source="MONDO:equivalentTo"}
xref: Orphanet:209919 {source="MONDO:relatedTo", source="OMIM:215600"}
xref: SCTID:6183001 {source="MONDO:equivalentTo"}
xref: UMLS:C1861556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350049"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005155 {source="MONDO:Redundant", source="NCIT:C84411"} ! cirrhosis of liver
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
intersection_of: MONDO:0005155 ! cirrhosis of liver
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0007330
name: congenital pseudoarthrosis of clavicle
def: "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." [Orphanet:66630]
subset: gard_rare {source="GARD:16673", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66630"}
subset: orphanet_rare {source="Orphanet:66630"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "clavicle, pseudarthrosis of, congenital" RELATED [OMIM:118980]
synonym: "congenital pseudarthrosis of the clavicle" EXACT [Orphanet:66630]
synonym: "congenital pseudoarthrosis of the clavicle" RELATED [Orphanet:66630]
xref: GARD:16673 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:66630/ntbt", source="Orphanet:66630/inclusion", source="Orphanet:66630"}
xref: MEDGEN:75577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562548 {source="MONDO:equivalentTo"}
xref: OMIM:118980 {source="Orphanet:66630/e", source="MONDO:equivalentTo", source="Orphanet:66630"}
xref: Orphanet:66630 {source="OMIM:118980", source="MONDO:equivalentTo"}
xref: SCTID:70794004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265565 {source="MEDGEN:75577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:35204869", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007331
name: obsolete cleft chin
comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0400001
synonym: "Chin dimple" RELATED [OMIM:119000]
synonym: "cleft chin" EXACT [OMIM:119000]
xref: OMIM:119000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/hpo-annotation-data/pull/234" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true
consider: HP:0400001

[Term]
id: MONDO:0007332
name: split-hand/foot malformation with long bone deficiency 1
subset: gard_rare {source="GARD:15050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aplasia of tibia with ectrodactyly" RELATED [MESH:C536425, OMIM:119100]
synonym: "cleft hand absent tibia" RELATED [MESH:C536425]
synonym: "cleft hand and absent tibia" RELATED [MESH:C536425, OMIM:119100]
synonym: "ectrodactyly with aplasia of long bones" RELATED [MESH:C536425, OMIM:119100]
synonym: "SHFLD" RELATED ABBREVIATION [MESH:C536425]
synonym: "SHFLD1" EXACT ABBREVIATION [MESH:C536425, MONDO:Lexical, OMIM:119100]
synonym: "split-hand-foot malformation with long bone deficiency" RELATED [MESH:C536425]
synonym: "split-hand/foot malformation with long bone deficiency" RELATED [MESH:C536425, OMIM:119100]
synonym: "split-hand/foot malformation with long bone deficiency 1" EXACT [MESH:C536425, MONDO:Lexical, OMIM:119100]
synonym: "tibial aplasia with split-hand-split-foot deformity" RELATED [MESH:C536425]
synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [MESH:C536425, OMIM:119100]
xref: GARD:15050 {source="MONDO:GARD"}
xref: MEDGEN:349310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536425 {source="MONDO:equivalentTo"}
xref: OMIM:119100 {source="MONDO:equivalentTo"}
xref: Orphanet:3329 {source="OMIM:119100"}
xref: UMLS:C1861553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349310"}
is_a: MONDO:0018050 {source="Orphanet:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome

[Term]
id: MONDO:0007333
name: van der Woude syndrome 1
def: "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cleft lip and/or palate with mucous cysts of Lower lip" RELATED [OMIM:119300]
synonym: "IRF6 van der Woude syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "lip-pit syndrome" RELATED [OMIM:119300]
synonym: "VAN DER Woude syndrome 1" RELATED [OMIM:119300]
synonym: "van der Woude syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:119300]
synonym: "van der Woude syndrome caused by mutation in IRF6" EXACT [MONDO:design_pattern]
synonym: "Van Der Woude syndrome type 1" EXACT [MONDORULE:1, OMIM:119300]
synonym: "Vdws" RELATED [OMIM:119300]
synonym: "VWS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119300]
xref: MEDGEN:1640616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:119300 {source="MONDO:equivalentTo"}
xref: Orphanet:888 {source="OMIM:119300"}
xref: UMLS:C4551864 {source="MEDGEN:1640616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019508 {source="DC-OMIM:119300", source="MONDO:Redundant"} ! van der Woude syndrome
intersection_of: MONDO:0019508 ! van der Woude syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 ! IRF6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 {source="MONDO:mim2gene_medgen"} ! IRF6

[Term]
id: MONDO:0007334
name: autosomal dominant popliteal pterygium syndrome
def: "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." [Orphanet:1300]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163).
subset: gard_rare {source="GARD:3242", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1300"}
subset: ordo_malformation_syndrome {source="Orphanet:1300"}
subset: orphanet_rare {source="Orphanet:1300"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies" RELATED [GARD:0003242]
synonym: "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies" RELATED [OMIM:119500]
synonym: "facio-genito-popliteal syndrome" BROAD [Orphanet:1300]
synonym: "faciogenitopopliteal syndrome" RELATED [OMIM:119500]
synonym: "popliteal pterygium syndrome" RELATED [MONDO:Lexical, OMIM:119500]
synonym: "popliteal pterygium syndrome 1" EXACT [OMIM:119500, OMIM:genemap2]
synonym: "popliteal pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "popliteal web syndrome" EXACT [Orphanet:1300]
synonym: "PPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119500]
xref: GARD:3242 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1300/attributed", source="Orphanet:1300/ntbt", source="Orphanet:1300"}
xref: OMIM:119500 {source="Orphanet:1300", source="MONDO:equivalentTo", source="Orphanet:1300/e"}
xref: Orphanet:1300 {source="OMIM:119500", source="MONDO:equivalentTo"}
xref: SCTID:718222000 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:1300"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0017435 {source="DC-OMIM:119500", source="MONDO:Redundant", source="Orphanet:1300"} ! popliteal pterygium syndrome
intersection_of: MONDO:0017435 ! popliteal pterygium syndrome
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1300", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 {source="MONDO:mim2gene_medgen"} ! IRF6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0007335
name: orofacial cleft 1
def: "Cleft lip with or without cleft palate mapped to chromosome 6p24." [NCIT:C124838]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 1" RELATED [OMIM:119530]
synonym: "cleft Lip/palate, nonsyndromic" RELATED [OMIM:119530]
synonym: "OFC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:119530]
synonym: "orofacial cleft 1" EXACT [MONDO:Lexical, OMIM:119530]
synonym: "orofacial cleft, nonsyndromic" RELATED [OMIM:119530]
synonym: "orofacial cleft-1" EXACT [OMIM:119530, OMIM:genemap2]
xref: DOID:0080395 {source="MONDO:equivalentTo"}
xref: MEDGEN:349303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566121 {source="MONDO:equivalentTo"}
xref: NCIT:C124838 {source="MONDO:equivalentTo"}
xref: OMIM:119530 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:119530"}
xref: UMLS:C1861537 {source="MEDGEN:349303", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:119530"} ! orofacial cleft
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007336
name: isolated cleft palate
def: "A cleft palate that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: gard_rare {source="GARD:1896", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate" RELATED [OMIM:119540]
synonym: "cleft palate, isolated" RELATED [MONDO:Lexical, OMIM:119540]
synonym: "CPI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119540]
synonym: "dominant cleft palate" RELATED [GARD:0001896]
synonym: "isolated cleft palate" EXACT CLINGEN_LABEL []
synonym: "nonsyndromic cleft palate" EXACT [MONDO:patterns/isolated]
xref: DOID:0110213 {source="MONDO:equivalentTo"}
xref: GARD:1896 {source="MONDO:GARD"}
xref: ICD10CM:Q35.1 {source="MONDO:directSiblingOf", source="DOID:0110213"}
xref: ICD10CM:Q35.3 {source="MONDO:directSiblingOf", source="DOID:0110213"}
xref: ICD10CM:Q35.5 {source="DOID:0110213"}
xref: ICD10CM:Q35.7 {source="DOID:0110213"}
xref: ICD10CM:Q35.9 {source="DOID:0110213"}
xref: MEDGEN:332392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:119540 {source="GARD:0001896", source="MONDO:equivalentTo", source="DOID:0110213"}
xref: Orphanet:2014 {source="DOID:0110213", source="OMIM:119540"}
xref: UMLS:C1837218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332392"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016064 {source="DOID:0110213", source="MONDO:Entailed", source="MONDO:Redundant"} ! cleft palate
intersection_of: MONDO:0016064 ! cleft palate
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12463 {source="MONDO:mim2gene_medgen"} ! UBB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate" xsd:anyURI {source="GARD:0001896"}

[Term]
id: MONDO:0007337
name: cleft palate-lateral synechia syndrome
def: "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." [Orphanet:2016]
subset: gard_rare {source="GARD:1391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2016"}
subset: ordo_malformation_syndrome {source="Orphanet:2016"}
subset: orphanet_rare {source="Orphanet:2016"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate lateral synechia syndrome" RELATED [GARD:0001391]
synonym: "cleft palate-lateral synechia syndrome" EXACT [OMIM:119550]
synonym: "CPLS syndrome" EXACT [Orphanet:2016]
synonym: "Cpls syndrome" RELATED [OMIM:119550]
synonym: "syngnathia" RELATED [OMIM:119550]
xref: DOID:0080313 {source="MONDO:equivalentTo"}
xref: GARD:1391 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2016/attributed", source="Orphanet:2016/ntbt", source="Orphanet:2016"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:162888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563047 {source="MONDO:equivalentTo"}
xref: OMIM:119550 {source="Orphanet:2016", source="MONDO:equivalentTo", source="Orphanet:2016/e"}
xref: Orphanet:2016 {source="MONDO:equivalentTo", source="OMIM:119550"}
xref: SCTID:403772000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795898 {source="MEDGEN:162888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2016"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome" xsd:anyURI {source="GARD:0001391"}

[Term]
id: MONDO:0007338
name: cleft soft palate
def: "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate." [Orphanet:99772]
subset: gard_rare {source="GARD:16907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99772"}
subset: ordo_morphological_anomaly {source="Orphanet:99772"}
subset: orphanet_rare {source="Orphanet:99772"}
subset: rare
synonym: "cleft soft palate" EXACT [OMIM:119570, Orphanet:99772]
synonym: "cleft velum" EXACT [DOID:0110214]
synonym: "cleft velum palatinum" EXACT [DOID:0110214, Orphanet:99772]
synonym: "soft cleft palate" EXACT [DOID:0110214]
xref: DOID:0110214 {source="MONDO:equivalentTo"}
xref: GARD:16907 {source="MONDO:GARD"}
xref: ICD10CM:Q35.3 {source="DOID:0110214", source="Orphanet:99772/e", source="MONDO:equivalentTo", source="Orphanet:99772"}
xref: icd11.foundation:797497023 {source="MONDO:equivalentTo", source="Orphanet:99772"}
xref: MEDGEN:98471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562950 {source="MONDO:equivalentTo"}
xref: OMIM:119570 {source="DOID:0110214", source="MONDO:equivalentTo", source="Orphanet:99772/btnt", source="Orphanet:99772"}
xref: Orphanet:99772 {source="DOID:0110214", source="MONDO:equivalentTo", source="OMIM:119570"}
xref: SCTID:253997002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98471"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016064 {source="DC-OMIM:119570", source="DOID:0110214", source="MESH:C562950", source="Orphanet:99772"} ! cleft palate

[Term]
id: MONDO:0007339
name: blepharocheilodontic syndrome
def: "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." [Orphanet:1997]
subset: gard_rare {source="GARD:2071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1997"}
subset: ordo_malformation_syndrome {source="Orphanet:1997"}
subset: orphanet_rare {source="Orphanet:1997"}
subset: prototype_pattern
subset: rare
synonym: "BCD syndrome" EXACT [Orphanet:1997]
synonym: "BCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119580]
synonym: "BCDS1" RELATED ABBREVIATION [OMIM:119580]
synonym: "blepharo-cheilo-dontic syndrome" RELATED [GARD:0002071]
synonym: "blepharo-cheilo-odontic syndrome" EXACT [DOID:0080344]
synonym: "blepharocheilodontic syndrome" EXACT [GARD:0002071, MONDO:Lexical, OMIM:119580, Orphanet:1997]
synonym: "blepharocheilodontic syndrome 1" RELATED [OMIM:119580]
synonym: "clefting, ectropion, and conical teeth" RELATED [GARD:0002071, OMIM:119580]
synonym: "clefting-ectropion-conical teeth syndrome" EXACT [Orphanet:1997]
synonym: "ectropion inferior cleft lip and or palate" RELATED [GARD:0002071]
synonym: "ectropion inferior-cleft lip and or palate syndrome" EXACT [Orphanet:1997]
synonym: "ectropion inferior-cleft lip and/or palate syndrome" EXACT [Orphanet:1997]
synonym: "ectropion, inferior, with cleft lip and/or palate" RELATED [OMIM:119580]
synonym: "Elsching syndrome" EXACT [Orphanet:1997]
synonym: "Elschnig syndrome" RELATED [GARD:0002071, OMIM:119580]
synonym: "lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:0002071, OMIM:119580]
synonym: "lagophthalmia-cleft lip and palate syndrome" EXACT [Orphanet:1997]
xref: DOID:0080344 {source="MONDO:equivalentTo"}
xref: GARD:2071 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1997", source="Orphanet:1997/attributed", source="Orphanet:1997/ntbt"}
xref: MEDGEN:349302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536188 {source="MONDO:equivalentTo"}
xref: OMIMPS:119580 {source="MONDO:equivalentTo", source="DOID:0080344", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1997 {source="MONDO:equivalentTo", source="GARD:0002071", source="OMIM:119580"}
xref: SCTID:717911008 {source="MONDO:equivalentTo"}
xref: UMLS:C1861536 {source="MEDGEN:349302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0080344"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="DOID:0080344", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1997"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019287 {source="Orphanet:1997"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020161 {source="Orphanet:1997"} ! congenital ectropion
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:119580"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate" xsd:anyURI {source="GARD:0002071"}

[Term]
id: MONDO:0007340
name: cleidocranial dysplasia 1
def: "A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." [https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia]
subset: gard_rare {source="GARD:6118", source="MONDO:GARD"}
subset: nord_rare {source="NORD:978", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1452"}
subset: ordo_malformation_syndrome {source="Orphanet:1452"}
subset: orphanet_rare {source="Orphanet:1452"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119600]
synonym: "CLCD" RELATED ABBREVIATION [GARD:0006118]
synonym: "cleidocranial dysostosis" EXACT [DOID:13994, OMIM:119600, Orphanet:1452]
synonym: "Cleidocranial Dysplasia" EXACT [NORD:978]
synonym: "cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:119600]
synonym: "cleidocranial dysplasia, forme fruste, dental anomalies only" RELATED [OMIM:119600]
synonym: "cleidocranial dysplasia, forme fruste, with brachydactyly" RELATED [OMIM:119600]
synonym: "dysplasia cleidocranial" RELATED [GARD:0006118]
synonym: "Marie-Sainton disease" EXACT [DOID:13994]
xref: DOID:13994 {source="MONDO:equivalentTo"}
xref: GARD:6118 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:1452/ntbt", source="Orphanet:1452", source="DOID:13994", source="Orphanet:1452/inclusion"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002973 {source="Orphanet:1452", source="MONDO:equivalentTo", source="Orphanet:1452/e", source="DOID:13994"}
xref: NCIT:C75020 {source="MONDO:equivalentTo", source="DOID:13994"}
xref: NORD:978 {source="MONDO:NORD"}
xref: OMIM:119600 {source="Orphanet:1452", source="MONDO:equivalentTo", source="Orphanet:1452/e", source="DOID:13994"}
xref: Orphanet:1452 {source="OMIM:119600", source="MONDO:equivalentTo", source="DOID:13994"}
xref: SCTID:240193006 {source="DOID:13994"}
xref: SCTID:65976001 {source="MONDO:equivalentTo", source="DOID:13994"}
xref: UMLS:C0008928 {source="MEDGEN:3486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C75020"} ! syndromic disease
is_a: MONDO:0005516 {source="DOID:13994", source="MESH:D002973"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10472 {source="MONDO:mim2gene_medgen"} ! RUNX2

[Term]
id: MONDO:0007341
name: cleidorhizomelic syndrome
def: "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." [Orphanet:1453]
subset: gard_rare {source="GARD:5532", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1453"}
subset: ordo_malformation_syndrome {source="Orphanet:1453"}
subset: orphanet_rare {source="Orphanet:1453"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle" RELATED [GARD:0005532]
synonym: "cleido rhizomelic syndrome" RELATED [GARD:0005532]
synonym: "cleidorhizomelic syndrome" EXACT [OMIM:119650]
synonym: "rhizomelic shortness with clavicular defect" EXACT [Orphanet:1453]
synonym: "Wallis Zieff Goldblatt syndrome" RELATED [GARD:0005532]
synonym: "Wallis-Zieff-Goldblatt syndrome" EXACT [Orphanet:1453]
xref: GARD:5532 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:1453", source="Orphanet:1453/attributed", source="Orphanet:1453/ntbt"}
xref: MEDGEN:350042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536428 {source="MONDO:equivalentTo"}
xref: OMIM:119650 {source="Orphanet:1453", source="MONDO:equivalentTo", source="Orphanet:1453/e"}
xref: Orphanet:1453 {source="MONDO:equivalentTo", source="OMIM:119650"}
xref: SCTID:719471002 {source="MONDO:equivalentTo"}
xref: UMLS:C1861515 {source="MEDGEN:350042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:3239579", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome" xsd:anyURI {source="GARD:0005532"}

[Term]
id: MONDO:0007342
name: clubfoot
def: "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119800]
synonym: "club foot" EXACT [NCIT:C84641]
synonym: "clubbed foot" EXACT [NCIT:C84641]
synonym: "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly" RELATED [MONDO:Lexical, OMIM:119800]
synonym: "congenital clubfoot" EXACT [DOID:11836]
synonym: "congenital equinovarus" EXACT [DOID:11836]
synonym: "congenital talipes equinovarus" EXACT [DOID:11836]
synonym: "equinovarus deformity of foot" EXACT [DOID:11836]
synonym: "equinovarus deformity of foot (finding)" EXACT [DOID:11836]
synonym: "talipes" EXACT [NCIT:C84641]
synonym: "talipes equinovarus" EXACT [NCIT:C84641]
xref: DOID:11836 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q66.0 {source="DOID:11836"}
xref: ICD10CM:Q66.89 {source="DOID:11836"}
xref: ICD9:754.51 {source="MONDO:equivalentTo", source="DOID:11836", source="MONDO:i2s"}
xref: MEDGEN:3130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003025 {source="MONDO:equivalentTo", source="DOID:11836"}
xref: NCIT:C84641 {source="MONDO:equivalentTo", source="DOID:11836"}
xref: OMIM:119800 {source="MONDO:equivalentTo", source="DOID:11836"}
xref: Orphanet:199315 {source="OMIM:119800"}
xref: Orphanet:293144 {source="OMIM:119800"}
xref: Orphanet:293150 {source="OMIM:119800"}
xref: SCTID:15169008 {source="DOID:11836"}
xref: SCTID:156985005 {source="DOID:11836"}
xref: SCTID:156987002 {source="DOID:11836"}
xref: SCTID:205089003 {source="DOID:11836"}
xref: SCTID:249808002 {source="DOID:11836"}
xref: SCTID:253957000 {source="DOID:11836"}
xref: SCTID:268340009 {source="DOID:11836"}
xref: SCTID:268341008 {source="DOID:11836"}
xref: SCTID:33163000 {source="DOID:11836"}
xref: SCTID:397932003 {source="MONDO:equivalentTo", source="DOID:11836"}
xref: UMLS:C0009081 {source="MEDGEN:3130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016046 {source="Orphanet:199315/btnt"} ! familial clubfoot with or without associated lower limb anomalies
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9004 {source="MONDO:mim2gene_medgen"} ! PITX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007343
name: isolated congenital digital clubbing
def: "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." [Orphanet:217059]
subset: gard_rare {source="GARD:17117", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217059"}
subset: ordo_morphological_anomaly {source="Orphanet:217059"}
subset: orphanet_rare {source="Orphanet:217059"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acropachy, hereditary" RELATED [OMIM:119900]
synonym: "clubbing of digits" RELATED [OMIM:119900]
synonym: "digital clubbing, isolated congenital" RELATED [OMIM:119900]
synonym: "isolated congenital acropachy" EXACT [Orphanet:217059]
synonym: "isolated congenital nail clubbing" EXACT [Orphanet:217059]
xref: GARD:17117 {source="MONDO:GARD"}
xref: ICD10CM:Q68.1 {source="Orphanet:217059/ntbt", source="Orphanet:217059/inclusion", source="Orphanet:217059"}
xref: icd11.foundation:130631845 {source="MONDO:equivalentTo", source="Orphanet:217059", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:576901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:119900 {source="Orphanet:217059/e", source="MONDO:equivalentTo", source="Orphanet:217059"}
xref: Orphanet:217059 {source="MONDO:equivalentTo", source="OMIM:119900"}
xref: UMLS:C0345408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576901"}
is_a: MONDO:0019284 {source="Orphanet:217059"} ! inherited isolated nail anomaly
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5154 {source="MONDO:mim2gene_medgen"} ! HPGD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0007344
name: cluster headache, familial
def: "An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cluster headache, familial" EXACT [OMIM:119915]
synonym: "hereditary cluster headache syndrome" EXACT [MONDO:patterns/hereditary]
xref: MEDGEN:350040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566117 {source="MONDO:equivalentTo"}
xref: OMIM:119915 {source="MONDO:equivalentTo"}
xref: Orphanet:1002 {source="OMIM:119915"}
xref: UMLS:C1861513 {source="MEDGEN:350040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
intersection_of: MONDO:0043537 ! cluster headache syndrome
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0007345
name: aorta coarctation
def: "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps." [NCIT:C84567]
subset: gard_rare {source="GARD:5828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1457"}
subset: ordo_morphological_anomaly {source="Orphanet:1457"}
subset: orphanet_rare {source="Orphanet:1457"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aortic coarctation" EXACT [NCIT:C84567]
synonym: "coarctation of aorta" RELATED [OMIM:120000]
synonym: "coarctation of the aorta" RELATED [GARD:0005828]
xref: EFO:1001267 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5828 {source="MONDO:GARD"}
xref: ICD10CM:Q25.1 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"}
xref: icd11.foundation:1524185114 {source="MONDO:equivalentTo", source="Orphanet:1457", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:747.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10009807 {source="Orphanet:1457", source="Orphanet:1457/e"}
xref: MEDGEN:1617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531623 {source="Orphanet:1457", source="Orphanet:1457/e"}
xref: MESH:D001017 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"}
xref: NANDO:2200283 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200284 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84567 {source="MONDO:equivalentTo"}
xref: OMIM:120000 {source="MONDO:equivalentTo", source="Orphanet:1457", source="Orphanet:1457/e"}
xref: Orphanet:1457 {source="MONDO:equivalentTo", source="OMIM:120000"}
xref: SCTID:7305005 {source="MONDO:equivalentTo"}
xref: UMLS:C0003492 {source="MEDGEN:1617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
is_a: MONDO:0005561 {source="https://orcid.org/0000-0002-3458-4839"} ! aortic disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0007346
name: cochleosaccular degeneration-cataract syndrome
def: "Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant." [Orphanet:3233]
subset: gard_rare {source="GARD:9418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3233"}
subset: ordo_malformation_syndrome {source="Orphanet:3233"}
subset: orphanet_rare {source="Orphanet:3233"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cochleosaccular Degeneration" RELATED [MESH:C536432]
synonym: "Cochleosaccular degeneration of the inner ear and progressive cataracts" RELATED [GARD:0009418]
synonym: "Cochleosaccular Degeneration of the inner Ear with progressive cataracts" RELATED [MESH:C536432]
synonym: "COCHLEOSACCULAR degeneration with progressive cataracts" RELATED [OMIM:120040]
xref: GARD:9418 {source="MONDO:GARD"}
xref: MEDGEN:348378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536432 {source="MONDO:equivalentTo"}
xref: OMIM:120040 {source="Orphanet:3233", source="GARD:0009418", source="MONDO:equivalentTo", source="Orphanet:3233/e"}
xref: Orphanet:3233 {source="OMIM:120040", source="MONDO:equivalentTo"}
xref: SCTID:715528001 {source="MONDO:equivalentTo"}
xref: UMLS:C1861512 {source="MEDGEN:348378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic HP:0000006 {source="https://orcid.org/0000-0002-4142-7153"} ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-of-the-inner-ear-and-progressive-cataracts" xsd:anyURI {source="GARD:0009418"}

[Term]
id: MONDO:0007347
name: obsolete Coxsackievirus B3 susceptibility
comment: obsoleted as it represents a susceptibility not a disease
synonym: "Cb3S" RELATED [OMIM:120050]
synonym: "Coxsackievirus B3 susceptibility" RELATED [MONDO:Lexical, OMIM:120050]
synonym: "CXB3S" EXACT ABBREVIATION [MONDO:Lexical, OMIM:120050]
xref: OMIM:120050 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0007348
name: obsolete colchicine resistance
synonym: "colchicine resistance" EXACT [OMIM:120080]
synonym: "colchicine sensitivity" RELATED [OMIM:120080]
xref: OMIM:120080 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0007349
name: familial cold autoinflammatory syndrome 1
def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cold hypersensitivity" RELATED [OMIM:120100]
synonym: "cold urticaria, familial" RELATED [OMIM:120100]
synonym: "cold-induced autoinflammatory syndrome, familial" RELATED [OMIM:120100]
synonym: "Cryopyrin-associated periodic syndrome 1" RELATED [OMIM:120100]
synonym: "familial cold autoinflammatory syndrome 1" EXACT [MONDO:Lexical, OMIM:120100]
synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP3" EXACT [MONDO:design_pattern]
synonym: "familial cold autoinflammatory syndrome type 1" EXACT [DOID:0090062, MONDORULE:1, OMIM:120100]
synonym: "familial cold inflammatory syndrome 1" EXACT [OMIM:120100, OMIM:genemap2]
synonym: "Fcas" RELATED [OMIM:120100]
synonym: "FCAS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:120100]
synonym: "NLRP3 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090062 {source="MONDO:equivalentTo"}
xref: GARD:15051 {source="MONDO:GARD"}
xref: ICD10CM:L50.2 {source="DOID:0090062"}
xref: MEDGEN:1647324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:120100 {source="DOID:0090062", source="MONDO:equivalentTo"}
xref: Orphanet:47045 {source="DOID:0090062", source="OMIM:120100"}
xref: SCTID:238687000 {source="MONDO:equivalentTo"}
xref: UMLS:C4551895 {source="MONDO:equivalentTo", source="MEDGEN:1647324", source="MONDO:MEDGEN"}
is_a: MONDO:0018768 {source="DC-OMIM:120100", source="DOID:0090062", source="MONDO:Redundant", source="OMIM:120100"} ! familial cold autoinflammatory syndrome
intersection_of: MONDO:0018768 ! familial cold autoinflammatory syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 ! NLRP3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 {source="MONDO:mim2gene_medgen"} ! NLRP3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007350
name: coloboma, ocular, autosomal dominant
subset: otar {source="MONDO:OTAR"}
synonym: "coloboma of iris, choroid, and retina" RELATED [OMIM:120200]
synonym: "coloboma, ocular" EXACT [OMIM:120200, OMIM:genemap2]
synonym: "coloboma, ocular, autosomal dominant" EXACT [OMIM:120200]
synonym: "coloboma, Uveoretinal" RELATED [OMIM:120200]
xref: OMIM:120200 {source="MONDO:equivalentTo"}
xref: Orphanet:194 {source="OMIM:120200"}
xref: Orphanet:98942 {source="OMIM:120200"}
xref: Orphanet:98944 {source="OMIM:120200"}
is_a: MONDO:0001476 {source="Orphanet:194/btnt"} ! coloboma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007351
name: coloboma of macula
def: "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." [Orphanet:98945]
subset: gard_rare {source="GARD:1436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98945"}
subset: ordo_morphological_anomaly {source="Orphanet:98945"}
subset: orphanet_rare {source="Orphanet:98945"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agenesis of macula" RELATED [OMIM:120300]
synonym: "coloboma of macula" EXACT [OMIM:120300]
synonym: "hereditary macular coloboma (subtype)" RELATED [GARD:0001436]
synonym: "macular coloboma" RELATED [GARD:0001436]
xref: GARD:1436 {source="MONDO:GARD"}
xref: ICD10CM:Q14.8 {source="Orphanet:98945", source="Orphanet:98945/attributed", source="Orphanet:98945/ntbt"}
xref: icd11.foundation:366058642 {source="MONDO:equivalentTo", source="Orphanet:98945"}
xref: MEDGEN:342305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:120300 {source="MONDO:equivalentTo", source="Orphanet:98945", source="Orphanet:98945/w"}
xref: Orphanet:98945 {source="MONDO:equivalentTo", source="OMIM:120300"}
xref: UMLS:C1852767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342305"}
is_a: MONDO:0001476 {source="Orphanet:98945"} ! coloboma
is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy

[Term]
id: MONDO:0007352
name: renal coloboma syndrome
def: "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." [Orphanet:1475]
subset: gard_rare {source="GARD:4106", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1475"}
subset: ordo_malformation_syndrome {source="Orphanet:1475"}
subset: orphanet_rare {source="Orphanet:1475"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAKUT with or without ocular abnormalities" EXACT [DOID:0090006]
synonym: "coloboma of optic nerve with renal disease" EXACT [DOID:0090006, Orphanet:1475]
synonym: "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" EXACT [DOID:0090006, OMIM:120330]
synonym: "optic coloboma, vesicoureteral reflux and renal anomalies" EXACT [DOID:0090006]
synonym: "optic coloboma, vesicoureteral reflux, and renal anomalies" RELATED [OMIM:120330]
synonym: "optic nerve coloboma with renal disease" RELATED [OMIM:120330]
synonym: "Papillo-renal syndrome" EXACT [Orphanet:1475]
synonym: "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT [DOID:0090006]
synonym: "PAPILLORENAL syndrome" RELATED [MONDO:Lexical, OMIM:120330]
synonym: "papillorenal syndrome" EXACT [DOID:0090006]
synonym: "PAPRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:120330]
synonym: "renal-coloboma syndrome" RELATED [OMIM:120330]
synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [DOID:0090006, OMIM:120330]
xref: DOID:0090006 {source="MONDO:equivalentTo"}
xref: GARD:4106 {source="MONDO:GARD"}
xref: ICD10CM:Q60.4 {source="Orphanet:1475", source="MONDO:relatedTo", source="Orphanet:1475/attributed", source="Orphanet:1475/ntbt", source="DOID:0090006"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:339002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537168 {source="MONDO:equivalentTo"}
xref: NCIT:C123230 {source="MONDO:equivalentTo"}
xref: OMIM:120330 {source="Orphanet:1475", source="MONDO:equivalentTo", source="Orphanet:1475/e", source="DOID:0090006"}
xref: Orphanet:1475 {source="MONDO:equivalentTo", source="OMIM:120330", source="DOID:0090006"}
xref: SCTID:446449009 {source="MONDO:equivalentTo"}
xref: UMLS:C1852759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339002"}
is_a: MONDO:0000426 {source="DOID:0090006", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123230", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:120330", source="Orphanet:1475"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8616 {source="MONDO:mim2gene_medgen"} ! PAX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome" xsd:anyURI {source="GARD:0004106"}

[Term]
id: MONDO:0007353
name: coloboma of macula-brachydactyly type B syndrome
def: "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." [Orphanet:1471]
subset: gard_rare {source="GARD:1437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1471"}
subset: ordo_malformation_syndrome {source="Orphanet:1471"}
subset: orphanet_rare {source="Orphanet:1471"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "apical dystrophy" RELATED [OMIM:120400]
synonym: "coloboma of macula with type B brachydactyly" RELATED [OMIM:120400]
synonym: "Sorsby syndrome" EXACT [OMIM:120400, Orphanet:1471]
xref: GARD:1437 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1471/attributed", source="Orphanet:1471/ntbt", source="Orphanet:1471"}
xref: MEDGEN:343882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535969 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="Orphanet:1471"}
xref: OMIM:120400 {source="Orphanet:1471/e", source="MONDO:equivalentTo", source="Orphanet:1471"}
xref: Orphanet:1471 {source="MONDO:equivalentTo", source="OMIM:120400"}
xref: SCTID:717785002 {source="MONDO:equivalentTo"}
xref: UMLS:C1852752 {source="MEDGEN:343882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy

[Term]
id: MONDO:0007354
name: coloboma of optic nerve
subset: gard_rare {source="GARD:1438", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98947"}
subset: ordo_morphological_anomaly {source="Orphanet:98947"}
subset: orphanet_rare {source="Orphanet:98947"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coloboma of optic disc" RELATED OMO:0003005 []
synonym: "coloboma of optic disk" RELATED EXCLUDE [DOID:11975]
synonym: "coloboma of optic nerve (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "coloboma of optic papilla" EXACT [Orphanet:98947]
synonym: "congenital coloboma of the optic nerve" NARROW [GARD:0008502]
synonym: "morning glory Disc anomaly" RELATED [OMIM:120430]
synonym: "optic nerve coloboma" EXACT [GARD:0008502]
synonym: "optic nerve head pits, bilateral congenital" RELATED [OMIM:120430]
xref: DOID:11975 {source="MONDO:equivalentTo"}
xref: GARD:1438 {source="MONDO:GARD"}
xref: HP:0000588 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H47.31 {source="DOID:11975"}
xref: ICD10CM:H47.319 {source="DOID:11975"}
xref: ICD10CM:Q14.2 {source="DOID:11975", source="Orphanet:98947/inclusion", source="Orphanet:98947", source="Orphanet:98947/ntbt"}
xref: icd11.foundation:592278969 {source="MONDO:equivalentTo", source="Orphanet:98947", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:377.23 {source="DOID:11975", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535970 {source="DOID:11975", source="MONDO:equivalentTo"}
xref: OMIM:120430 {source="DOID:11975", source="MONDO:equivalentTo"}
xref: Orphanet:35737 {source="OMIM:120430"}
xref: Orphanet:98947 {source="MONDO:equivalentTo"}
xref: SCTID:155191004 {source="DOID:11975"}
xref: SCTID:17541006 {source="DOID:11975", source="MONDO:equivalentTo"}
xref: SCTID:194049000 {source="DOID:11975"}
xref: SCTID:204184001 {source="DOID:11975"}
xref: SCTID:267744000 {source="DOID:11975"}
xref: SCTID:44295002 {source="DOID:11975"}
xref: UMLS:C0155299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57832"}
is_a: MONDO:0001476 {source="DC-OMIM:120430", source="MESH:C535970", source="Orphanet:98947"} ! coloboma
is_a: MONDO:0001834 {source="DOID:11975"} ! visual pathway disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4364" xsd:anyURI
property_value: IAO:0000589 "coloboma of optic nerve (disease)" xsd:string

[Term]
id: MONDO:0007355
name: uveal coloboma-cleft lip and palate-intellectual disability
def: "Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." [Orphanet:1473]
subset: gard_rare {source="GARD:1440", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1473"}
subset: ordo_malformation_syndrome {source="Orphanet:1473"}
subset: orphanet_rare {source="Orphanet:1473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COB1" RELATED DEPRECATED [MONDO:Lexical, OMIM:120433]
synonym: "coloboma, cleft lip/palate and intellectual disability syndrome" RELATED [GARD:0001440]
synonym: "coloboma, cleft lip/palate and mental retardation syndrome" RELATED DEPRECATED [GARD:0001440]
synonym: "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability" RELATED [MONDO:Lexical, OMIM:120433]
synonym: "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:120433]
synonym: "coloboma-microphthalmos syndrome" RELATED [GARD:0001440]
synonym: "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" RELATED [GARD:0001440]
synonym: "uveal coloboma-cleft lip and palate-intellectual disability" EXACT CLINGEN_LABEL []
synonym: "uveal coloboma-cleft lip/palate-intellectual disability syndrome" RELATED [GARD:0001440]
synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" RELATED DEPRECATED [GARD:0001440]
xref: DOID:0111249 {source="MONDO:equivalentTo"}
xref: GARD:1440 {source="MONDO:GARD"}
xref: ICD10CM:Q12.2 {source="Orphanet:1473", source="Orphanet:1473/attributed", source="Orphanet:1473/ntbt"}
xref: MEDGEN:811762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535971 {source="MONDO:equivalentTo"}
xref: OMIM:120433 {source="Orphanet:1473", source="MONDO:equivalentTo", source="Orphanet:1473/e"}
xref: Orphanet:1473 {source="MONDO:equivalentTo", source="OMIM:120433"}
xref: UMLS:C3805432 {source="MEDGEN:811762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1473"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1473", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16262 {source="MONDO:mim2gene_medgen"} ! YAP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0007356
name: Lynch syndrome 1
def: "Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15052", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COCA1" RELATED ABBREVIATION [OMIM:120435]
synonym: "colon cancer, familial nonpolyposis, type 1" RELATED [OMIM:120435]
synonym: "colorectal cancer, hereditary nonpolyposis, type 1" RELATED [OMIM:120435]
synonym: "familial non-polyposis colon cancer type 1" EXACT [NCIT:C6725]
synonym: "Hereditary non-polyposis colon cancer type 1" EXACT [NCIT:C6725]
synonym: "hereditary nonpolyposis colorectal cancer type 1" EXACT [NCIT:C6725]
synonym: "HNPCC1" EXACT ABBREVIATION [NCIT:C6725]
synonym: "Lynch 1 syndrome" EXACT [NCIT:C6725]
synonym: "Lynch syndrome 1" EXACT CLINGEN_LABEL []
synonym: "Lynch syndrome 2" RELATED [OMIM:120435]
synonym: "LYNCH syndrome I" RELATED [OMIM:120435]
synonym: "Lynch syndrome type 1" EXACT [MONDORULE:1, OMIM:120435]
xref: DOID:0070271 {source="MONDO:equivalentTo"}
xref: GARD:15052 {source="MONDO:GARD"}
xref: MEDGEN:423615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537261 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NCIT:C6725 {source="MONDO:equivalentTo"}
xref: OMIM:120435 {source="MONDO:equivalentTo"}
xref: Orphanet:144 {source="OMIM:120435"}
xref: UMLS:C2936783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423615"}
is_a: MONDO:0018630 {source="MONDO:Redundant", source="NCIT:C6725/inferred", source="OMIM:120435"} ! hereditary nonpolyposis colon cancer
relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:120435", source="NCIT:C6725", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:120435"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7325 {source="OMIM:120435"} ! MSH2

[Term]
id: MONDO:0007357
name: colonic varices without portal hypertension
synonym: "colonic varices without portal hypertension" EXACT [OMIM:120440]
xref: MEDGEN:343875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565172 {source="MONDO:equivalentTo"}
xref: OMIM:120440 {source="MONDO:equivalentTo"}
xref: UMLS:C1852721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343875"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007358
name: comedones, familial Dyskeratotic
synonym: "comedones, familial Dyskeratotic" EXACT [OMIM:120450]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562838 {source="MONDO:equivalentTo"}
xref: OMIM:120450 {source="MONDO:equivalentTo"}
xref: SCTID:254219004 {source="MONDO:equivalentTo"}
xref: UMLS:C0345424 {source="MONDO:equivalentTo", source="MEDGEN:138018", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007359
name: commissural lip pits
synonym: "commissural lip pits" EXACT [OMIM:120500]
xref: MEDGEN:98001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:120500 {source="MONDO:equivalentTo"}
xref: SCTID:109550008 {source="MONDO:equivalentTo"}
xref: UMLS:C0399605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98001"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007360
name: branchiootic syndrome 2
subset: gard_rare {source="GARD:15053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bo syndrome 2" RELATED [OMIM:120502]
synonym: "branchiootic syndrome 2" EXACT [OMIM:120502]
synonym: "branchiootic syndrome type 2" EXACT [MONDORULE:1, OMIM:120502]
xref: GARD:15053 {source="MONDO:GARD"}
xref: MEDGEN:377737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565171 {source="MONDO:equivalentTo"}
xref: OMIM:120502 {source="MONDO:equivalentTo"}
xref: Orphanet:52429 {source="OMIM:120502"}
xref: UMLS:C1852718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377737"}
is_a: MONDO:0018878 {source="DC-OMIM:120502"} ! branchiootic syndrome

[Term]
id: MONDO:0007361
name: C1 inhibitor deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "complement component 4, partial deficiency OF" RELATED [OMIM:120790]
synonym: "Quincke edema" RELATED EXCLUDE [DOID:0060002]
synonym: "Quincke oedema" RELATED OMO:0003005 []
xref: DOID:0060002 {source="MONDO:equivalentTo"}
xref: ICD10CM:D84.1 {source="Orphanet:459353/inclusion", source="Orphanet:459353", source="Orphanet:459353/ntbt"}
xref: MEDGEN:343867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200365 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200795 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:120790 {source="Orphanet:459353/e", source="MONDO:equivalentTo", source="Orphanet:459353"}
xref: Orphanet:169147 {source="OMIM:120790", source="MONDO:directSiblingOf"}
xref: Orphanet:459353 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1852700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343867"}
is_a: MONDO:0000015 {source="DC-OMIM:120790"} ! classic complement early component deficiency
is_a: MONDO:0003832 {source="DOID:0060002", source="MONDO:indirect"} ! complement deficiency
relationship: disease_has_feature HP:0004431 ! Reduced circulating complement concentration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1228 {source="MONDO:mim2gene_medgen"} ! SERPING1

[Term]
id: MONDO:0007362
name: cone-rod dystrophy 2
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:6145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy" RELATED [OMIM:120970]
synonym: "cone-rod dystrophy 2" EXACT [MONDO:Lexical, OMIM:120970]
synonym: "cone-rod dystrophy caused by mutation in CRX" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 2" EXACT [DOID:0111005, MONDORULE:1, OMIM:120970]
synonym: "cone-rod retinal dystrophy" RELATED [OMIM:120970]
synonym: "cone-rod retinal dystrophy 2" EXACT [DOID:0111005]
synonym: "cone-rod retinal dystrophy-2" EXACT [OMIM:120970, OMIM:genemap2]
synonym: "CORD2" EXACT ABBREVIATION [DOID:0111005, MONDO:Lexical, OMIM:120970]
synonym: "CRD2" EXACT ABBREVIATION [DOID:0111005]
synonym: "CRX cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCRD2" EXACT ABBREVIATION [DOID:0111005]
synonym: "retinal cone-rod dystrophy" RELATED [OMIM:120970]
synonym: "retinal cone-rod dystrophy 2" EXACT [DOID:0111005]
xref: DOID:0111005 {source="MONDO:equivalentTo"}
xref: GARD:6145 {source="MONDO:GARD"}
xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:483485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C162399 {source="MONDO:equivalentTo"}
xref: OMIM:120970 {source="MONDO:equivalentTo", source="DOID:0111005"}
xref: Orphanet:1872 {source="OMIM:120970"}
xref: SCTID:80328002 {source="MONDO:equivalentTo"}
xref: UMLS:C3489532 {source="MEDGEN:483485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:120970", source="DOID:0111005", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0019200 {source="OMIM:120970"} ! retinitis pigmentosa
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 ! CRX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 {source="MONDO:mim2gene_medgen"} ! CRX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007363
name: congenital contractural arachnodactyly
def: "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." [Orphanet:115]
subset: gard_rare {source="GARD:5899", source="MONDO:GARD"}
subset: nord_rare {source="NORD:844", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:115"}
subset: ordo_malformation_syndrome {source="Orphanet:115"}
subset: orphanet_rare {source="Orphanet:115"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arachnodactyly, contractural Beals type" RELATED [GARD:0005899]
synonym: "arthrogryposis, distal, type 9" RELATED [MONDO:Lexical, OMIM:121050]
synonym: "Beals syndrome" EXACT [OMIM:121050, Orphanet:115]
synonym: "Beals-Hecht syndrome" EXACT [Orphanet:115]
synonym: "CCA" EXACT ABBREVIATION [NCIT:C129865]
synonym: "CCA syndrome" EXACT [Orphanet:115]
synonym: "contractural arachnodactyly, congenital" RELATED [OMIM:121050]
synonym: "contractures, multiple with arachnodactyly" RELATED [GARD:0005899]
synonym: "DA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121050]
synonym: "distal arthrogryposis type 9" EXACT [Orphanet:115]
synonym: "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" RELATED [GARD:0005899]
xref: DOID:0111595 {source="MONDO:equivalentTo"}
xref: GARD:5899 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:115", source="Orphanet:115/attributed", source="Orphanet:115/ntbt"}
xref: icd11.foundation:1376425921 {source="Orphanet:115", source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:67391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536211 {source="Orphanet:115", source="MONDO:equivalentTo", source="Orphanet:115/e"}
xref: NANDO:2201026 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129865 {source="MONDO:equivalentTo"}
xref: NORD:844 {source="MONDO:NORD"}
xref: OMIM:121050 {source="Orphanet:115", source="MONDO:equivalentTo", source="Orphanet:115/e"}
xref: Orphanet:115 {source="OMIM:121050", source="MONDO:equivalentTo"}
xref: SCTID:205821003 {source="MONDO:equivalentTo"}
xref: UMLS:C0220668 {source="MEDGEN:67391", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008779 {source="NCIT:C129865"} ! arthrogryposis
is_a: MONDO:0017310 {source="Orphanet:115"} ! Marfan and Marfan-related disorder
is_a: MONDO:0019942 {source="DC-OMIM:121050", source="Orphanet:115"} ! distal arthrogryposis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3604 {source="MONDO:mim2gene_medgen"} ! FBN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007364
name: arthrogryposis, distal, type 2E
subset: gard_rare {source="GARD:10135", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arthrogryposis, distal, type 2E" EXACT [OMIM:121070]
synonym: "contractures of fingers and jaw" RELATED [OMIM:121070]
xref: GARD:10135 {source="MONDO:GARD"}
xref: MEDGEN:343844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535384 {source="MONDO:equivalentTo"}
xref: OMIM:121070 {source="MONDO:equivalentTo"}
xref: UMLS:C1852597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343844"}
is_a: MONDO:0019942 {source="DC-OMIM:121070"} ! distal arthrogryposis

[Term]
id: MONDO:0007365
name: seizures, benign familial neonatal, 1
def: "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "benign neonatal seizures caused by mutation in KCNQ2" EXACT [MONDO:design_pattern]
synonym: "BFNS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121200]
synonym: "epilepsy, benign neonatal, 1, and/or myokymia" RELATED [OMIM:121200]
synonym: "KCNQ2 benign neonatal seizures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myokymia" BROAD [OMIM:121200, OMIM:genemap2]
synonym: "seizures, benign familial neonatal, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:121200]
synonym: "seizures, benign familial neonatal, 1, and/or myokymia" RELATED [OMIM:121200]
synonym: "seizures, benign familial neonatal, type 1" EXACT [MONDORULE:1, OMIM:121200]
synonym: "seizures, benign neonatal, 1" EXACT [OMIM:121200, OMIM:genemap2]
xref: MEDGEN:460425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567743 {source="MONDO:equivalentTo"}
xref: OMIM:121200 {source="MONDO:equivalentTo"}
xref: Orphanet:1949 {source="OMIM:121200"}
xref: UMLS:C3149074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:460425"}
is_a: MONDO:0016027 {source="DC-OMIM:121200", source="MONDO:Redundant", source="OMIM:121200"} ! benign neonatal seizures
intersection_of: MONDO:0016027 ! benign neonatal seizures
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6296 ! KCNQ2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6296 {source="MONDO:mim2gene_medgen"} ! KCNQ2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007366
name: seizures, benign familial neonatal, 2
def: "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "benign neonatal seizures caused by mutation in KCNQ3" EXACT [MONDO:design_pattern]
synonym: "BFNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121201]
synonym: "convulsions, benign familial neonatal, 2" RELATED [OMIM:121201]
synonym: "KCNQ3 benign neonatal seizures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "seizures, benign familial neonatal, 2" EXACT [MONDO:Lexical, OMIM:121201]
synonym: "seizures, benign familial neonatal, type 2" EXACT [MONDORULE:1, OMIM:121201]
synonym: "seizures, benign neonatal, 2" EXACT [OMIM:121201, OMIM:genemap2]
xref: GARD:15054 {source="MONDO:GARD"}
xref: MEDGEN:377707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:121201 {source="MONDO:equivalentTo"}
xref: Orphanet:1949 {source="OMIM:121201"}
xref: UMLS:C1852581 {source="MEDGEN:377707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016027 {source="DC-OMIM:121201", source="MONDO:Redundant", source="OMIM:121201"} ! benign neonatal seizures
intersection_of: MONDO:0016027 ! benign neonatal seizures
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6297 ! KCNQ3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6297 {source="MONDO:mim2gene_medgen"} ! KCNQ3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007367
name: febrile seizures, familial, 1
synonym: "convulsions, familial febrile" RELATED [OMIM:121210]
synonym: "convulsions, familial febrile, 1" RELATED [OMIM:121210]
synonym: "FEB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:121210]
synonym: "febrile seizures, familial, 1" EXACT [MONDO:Lexical, OMIM:121210]
xref: DOID:0111307 {source="MONDO:equivalentTo"}
xref: ICD9:780.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:338959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565162 {source="MONDO:equivalentTo"}
xref: OMIM:121210 {source="MONDO:equivalentTo"}
xref: SCTID:230432008 {source="MONDO:equivalentTo"}
xref: UMLS:C1852577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338959"}
is_a: MONDO:0000032 {source="DC-OMIM:121210", source="OMIM:121210"} ! febrile seizures, familial
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease

[Term]
id: MONDO:0007368
name: familial benign copper deficiency
def: "Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982." [Orphanet:1551]
subset: gard_rare {source="GARD:1522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1551"}
subset: orphanet_rare {source="Orphanet:1551"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "copper deficiency, familial benign" RELATED [OMIM:121270]
synonym: "familial benign hypocupremia" RELATED [GARD:0001522]
xref: GARD:1522 {source="MONDO:GARD"}
xref: ICD10CM:E83.0 {source="Orphanet:1551/attributed", source="Orphanet:1551/ntbt", source="Orphanet:1551"}
xref: MEDGEN:338958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535468 {source="Orphanet:1551", source="MONDO:equivalentTo", source="Orphanet:1551/e"}
xref: OMIM:121270 {source="Orphanet:1551", source="MONDO:equivalentTo", source="Orphanet:1551/e"}
xref: Orphanet:1551 {source="OMIM:121270", source="MONDO:equivalentTo"}
xref: SCTID:763531001 {source="MONDO:equivalentTo"}
xref: UMLS:C1852576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338958"}
is_a: MONDO:0017762 {source="Orphanet:1551"} ! disorder of copper metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign" xsd:anyURI {source="GARD:0001522"}

[Term]
id: MONDO:0007369
name: hereditary coproporphyria
def: "A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions." [Orphanet:79273]
subset: gard_rare {source="GARD:6619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1228"}
subset: ordo_disorder {source="Orphanet:79273"}
subset: orphanet_rare {source="Orphanet:79273"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coproporphyria" RELATED [GARD:0006619]
synonym: "coproporphyria hereditary" RELATED [GARD:0006619]
synonym: "coproporphyria, hereditary" RELATED [MONDO:Lexical, OMIM:121300]
synonym: "coproporphyrinogen oxidase deficiency" EXACT [DOID:13269, OMIM:121300]
synonym: "Cpo deficiency" RELATED [OMIM:121300]
synonym: "Cpox deficiency" RELATED [OMIM:121300]
synonym: "CPRO deficiency" RELATED [GARD:0006619]
synonym: "Cpx deficiency" RELATED [OMIM:121300]
synonym: "Harderoporphyria" RELATED [OMIM:121300]
synonym: "HCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121300]
synonym: "hereditary coproporphyria" EXACT [DOID:13269]
synonym: "hereditary coproporphyria porphyria" EXACT [DOID:13269]
synonym: "porphyria hepatica coproporphyria" RELATED [GARD:0006619]
synonym: "porphyria hepatica II" RELATED [GARD:0006619]
xref: DOID:13269 {source="MONDO:equivalentTo"}
xref: GARD:6619 {source="MONDO:GARD"}
xref: ICD10CM:E80.2 {source="Orphanet:79273", source="Orphanet:79273/attributed", source="Orphanet:79273/ntbt"}
xref: ICD10CM:E80.29 {source="DOID:13269"}
xref: MedDRA:10019866 {source="Orphanet:79273", source="Orphanet:79273/e"}
xref: MEDGEN:57931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046349 {source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269", source="Orphanet:79273/e"}
xref: NANDO:1200813 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201264 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84759 {source="MONDO:equivalentTo", source="DOID:13269"}
xref: NORD:1228 {source="MONDO:NORD"}
xref: OMIM:121300 {source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269", source="Orphanet:79273/e"}
xref: Orphanet:79273 {source="MONDO:equivalentTo", source="OMIM:121300"}
xref: SCTID:238055004 {source="DOID:13269"}
xref: SCTID:7425008 {source="MONDO:equivalentTo", source="DOID:13269"}
xref: UMLS:C0162531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57931"}
is_a: MONDO:0002520 {source="DOID:13269", source="MESH:D046349", source="Orphanet:79273"} ! hepatic porphyria
is_a: MONDO:0019142 {source="DOID:13269/inferred", source="MESH:D046349/inferred", source="MONDO:Redundant", source="NCIT:C84759", source="Orphanet:79273/inferred"} ! inherited porphyria
is_a: MONDO:0800180 {source="https://clinicalgenome.org/affiliation/40097/", source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"} ! CPOX-related hereditary coproporphyria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2321 {source="MONDO:mim2gene_medgen"} ! CPOX
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria" xsd:anyURI {source="GARD:0006619"}

[Term]
id: MONDO:0007370
name: coracoclavicular joint, anomalous
synonym: "coracoclavicular joint, anomalous" EXACT [OMIM:121350]
xref: MEDGEN:377706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565161 {source="MONDO:equivalentTo"}
xref: OMIM:121350 {source="MONDO:equivalentTo"}
xref: UMLS:C1852561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377706"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007371
name: cornea guttata with anterior polar cataracts
synonym: "cornea guttata with anterior polar cataract" RELATED [GARD:0009507]
synonym: "cornea guttata with anterior polar cataracts" EXACT [OMIM:121390]
synonym: "familial congenital cornea guttata with anterior polar cataracts (type)" RELATED [GARD:0009507]
xref: MEDGEN:338956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535471 {source="MONDO:equivalentTo"}
xref: OMIM:121390 {source="MONDO:equivalentTo"}
xref: UMLS:C1852558 {source="MEDGEN:338956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C535471/inferred"} ! hereditary disease

[Term]
id: MONDO:0007372
name: cornea plana 1, autosomal dominant
subset: gard_rare {source="GARD:18049", source="MONDO:GARD"}
subset: rare
synonym: "CNA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121400]
synonym: "cornea plana 1" RELATED [MONDO:Lexical, OMIM:121400]
synonym: "cornea plana 1, autosomal dominant" EXACT [OMIM:121400]
xref: GARD:18049 {source="MONDO:GARD"}
xref: MEDGEN:343837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565158 {source="MONDO:equivalentTo"}
xref: OMIM:121400 {source="MONDO:equivalentTo"}
xref: Orphanet:53691 {source="OMIM:121400"}
xref: UMLS:C1852557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343837"}
is_a: MONDO:0000733 {source="MONDO:Redundant", source="OMIM:121400"} ! cornea plana

[Term]
id: MONDO:0007373
name: corneal degeneration, ribbonlike, with deafness
synonym: "band keratopathy with deafness" RELATED [OMIM:121450]
synonym: "corneal degeneration, ribbonlike, with deafness" EXACT [OMIM:121450]
xref: MEDGEN:377705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565157 {source="MONDO:equivalentTo"}
xref: OMIM:121450 {source="MONDO:equivalentTo"}
xref: UMLS:C1852556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377705"}
is_a: MONDO:0003847 {source="MESH:C565157/inferred"} ! hereditary disease

[Term]
id: MONDO:0007374
name: Schnyder corneal dystrophy
def: "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." [Orphanet:98967]
subset: gard_rare {source="GARD:9277", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98967"}
subset: orphanet_rare {source="Orphanet:98967"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy crystalline of Schnyder" EXACT [DOID:0060456]
synonym: "corneal dystrophy, crystalline, of Schnyder" RELATED [OMIM:121800]
synonym: "corneal dystrophy, Schnyder" RELATED [OMIM:121800]
synonym: "corneal dystrophy, Schnyder type" EXACT [OMIM:121800, OMIM:genemap2]
synonym: "crystalline stromal dystrophy" EXACT [DOID:0060456, Orphanet:98967]
synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT [DOID:0060456, Orphanet:98967]
synonym: "SCCD" EXACT ABBREVIATION [DOID:0060456, MONDO:Lexical, OMIM:121800, Orphanet:98967]
synonym: "SCD" EXACT ABBREVIATION [Orphanet:98967]
synonym: "Schnyder corneal dystrophy" EXACT [MONDO:Lexical, OMIM:121800]
synonym: "Schnyder crystalline corneal dystrophy" EXACT [DOID:0060456, OMIM:121800, Orphanet:98967]
synonym: "Schnyder crystalline dystrophy sine crystals" EXACT [Orphanet:98967]
xref: DOID:0060456 {source="MONDO:equivalentTo"}
xref: GARD:9277 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98967", source="Orphanet:98967/attributed", source="Orphanet:98967/ntbt"}
xref: MEDGEN:124391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535475 {source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="Orphanet:98967/e"}
xref: OMIM:121800 {source="MONDO:equivalentTo", source="Orphanet:98967", source="DOID:0060456", source="Orphanet:98967/e"}
xref: Orphanet:98967 {source="MONDO:equivalentTo", source="DOID:0060456", source="OMIM:121800"}
xref: SCTID:39662004 {source="DOID:0060456"}
xref: SCTID:419395007 {source="MONDO:equivalentTo", source="DOID:0060456"}
xref: SCTID:420212002 {source="DOID:0060456"}
xref: UMLS:C0271287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124391"}
is_a: MONDO:0020213 {source="DOID:0060456", source="Orphanet:98967"} ! stromal corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30791 {source="MONDO:mim2gene_medgen"} ! UBIAD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007375
name: epithelial basement membrane dystrophy
subset: gard_rare {source="GARD:9732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98956"}
subset: orphanet_rare {source="Orphanet:98956"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior basement membrane dystrophy" EXACT [Orphanet:98956]
synonym: "Cogan corneal dystrophy" EXACT [DOID:0060447, OMIM:121820]
synonym: "Cogan microcystic epithelial dystrophy" EXACT [Orphanet:98956]
synonym: "corneal dystrophy, anterior basement Membrane" RELATED [OMIM:121820]
synonym: "corneal dystrophy, epithelial basement MEMBRANE" RELATED [MONDO:Lexical, OMIM:121820]
synonym: "corneal dystrophy, Map-Dot-Fingerprint type" RELATED [OMIM:121820]
synonym: "corneal dystrophy, microcystic" RELATED [OMIM:121820]
synonym: "EBMD" EXACT ABBREVIATION [DOID:0060447, MONDO:Lexical, OMIM:121820]
synonym: "epithelial basement membrane corneal dystrophy" RELATED [GARD:0009732]
synonym: "Map-dot-fingerprint dystrophy" EXACT [Orphanet:98956]
synonym: "Map-dot-fingerprint dystrophy of cornea" RELATED [GARD:0009732]
synonym: "microcystic corneal dystrophy" EXACT [DOID:0060447]
synonym: "microcystic dystrophy of the cornea" RELATED [GARD:0009732]
xref: DOID:0060447 {source="MONDO:equivalentTo"}
xref: GARD:9732 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98956", source="DOID:0060447", source="Orphanet:98956/attributed", source="Orphanet:98956/ntbt"}
xref: MEDGEN:99275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535477 {source="MONDO:equivalentTo", source="DOID:0060447"}
xref: OMIM:121820 {source="MONDO:equivalentTo", source="Orphanet:98956", source="DOID:0060447", source="Orphanet:98956/e"}
xref: Orphanet:98956 {source="MONDO:equivalentTo", source="DOID:0060447", source="OMIM:121820"}
xref: SCTID:373426005 {source="MONDO:equivalentTo"}
xref: UMLS:C0521723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99275"}
is_a: MONDO:0000763 {source="DOID:0060447"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0020212 {source="Orphanet:98956"} ! superficial corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI

[Term]
id: MONDO:0007376
name: fleck corneal dystrophy
def: "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." [Orphanet:98970]
subset: gard_rare {source="GARD:16879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98970"}
subset: orphanet_rare {source="Orphanet:98970"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cfd" RELATED [OMIM:121850]
synonym: "corneal dystrophy, FLECK" RELATED [OMIM:121850]
synonym: "corneal dystrophy, Francois-Neetens speckled or flecked" RELATED [OMIM:121850]
synonym: "corneal fleck dystrophy" EXACT [OMIM:121850, OMIM:genemap2]
synonym: "FCD" EXACT ABBREVIATION [DOID:0060448, Orphanet:98970]
synonym: "fleck corneal dystrophy" EXACT [OMIM:121850]
synonym: "FranC'ois-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970]
synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [DOID:0060448]
synonym: "François-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970]
xref: DOID:0060448 {source="MONDO:equivalentTo"}
xref: GARD:16879 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98970/attributed", source="Orphanet:98970/ntbt", source="Orphanet:98970"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:287065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563256 {source="MONDO:equivalentTo", source="DOID:0060448"}
xref: OMIM:121850 {source="Orphanet:98970/e", source="MONDO:equivalentTo", source="DOID:0060448", source="Orphanet:98970"}
xref: Orphanet:98970 {source="MONDO:equivalentTo", source="DOID:0060448", source="OMIM:121850"}
xref: SCTID:417183007 {source="MONDO:equivalentTo", source="DOID:0060448"}
xref: UMLS:C1562113 {source="MEDGEN:287065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020213 {source="DOID:0060448", source="Orphanet:98970"} ! stromal corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23785 {source="MONDO:mim2gene_medgen"} ! PIKFYVE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007377
name: granular corneal dystrophy type I
def: "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." [Orphanet:98962]
subset: gard_rare {source="GARD:9677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98962"}
subset: orphanet_rare {source="Orphanet:98962"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDGG1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121900]
synonym: "classic GCD" EXACT [Orphanet:98962]
synonym: "classic granular corneal dystrophy" EXACT [Orphanet:98962]
synonym: "corneal dystrophy granular type" RELATED [GARD:0009677]
synonym: "corneal dystrophy Groenouw type I" EXACT [Orphanet:98962]
synonym: "corneal dystrophy punctate or nodular" RELATED [GARD:0009677]
synonym: "corneal dystrophy, Groenouw type 1" RELATED [OMIM:121900]
synonym: "corneal dystrophy, Groenouw type I" RELATED [MONDO:Lexical, OMIM:121900]
synonym: "corneal dystrophy, punctate or nodular" RELATED [OMIM:121900]
synonym: "GCD1" EXACT ABBREVIATION [Orphanet:98962]
synonym: "GCDI" EXACT ABBREVIATION [Orphanet:98962]
synonym: "granular corneal dystrophy type 1" EXACT [Orphanet:98962]
synonym: "granular corneal dystrophy, type 1" RELATED [OMIM:121900]
synonym: "Groenouw type I corneal dystrophy" RELATED [GARD:0009677]
xref: DOID:0080530 {source="MONDO:equivalentTo"}
xref: GARD:9677 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98962/attributed", source="Orphanet:98962/ntbt", source="Orphanet:98962"}
xref: MEDGEN:351521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537304 {source="MONDO:equivalentTo"}
xref: OMIM:121900 {source="Orphanet:98962", source="MONDO:equivalentTo", source="Orphanet:98962/e"}
xref: Orphanet:98962 {source="OMIM:121900", source="MONDO:equivalentTo"}
xref: SCTID:419039007 {source="MONDO:equivalentTo"}
xref: UMLS:C1641846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351521"}
is_a: MONDO:0020213 {source="Orphanet:98962"} ! stromal corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI

[Term]
id: MONDO:0007378
name: posterior polymorphous corneal dystrophy 1
def: "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23." [DOID:0110855, PMID:26749309]
subset: gard_rare {source="GARD:18212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Ched1" EXACT [DOID:0110855]
synonym: "corneal dystrophy, hereditary polymorphous posterior" RELATED [OMIM:122000]
synonym: "corneal dystrophy, POSTERIOR polymorphous, 1" RELATED [MONDO:Lexical, OMIM:122000]
synonym: "corneal dystrophy, posterior polymorphous, type 1" EXACT [MONDORULE:1, OMIM:122000]
synonym: "corneal endothelial dystrophy 1, autosomal dominant" EXACT [DOID:0110855, OMIM:122000]
synonym: "corneal endothelial dystrophy 1, autosomal dominant, formerly" RELATED [OMIM:122000]
synonym: "Maumenee corneal dystrophy" EXACT [DOID:0110855, https://orcid.org/0000-0002-0736-9199]
synonym: "posterior polymorphous corneal dystrophy" RELATED [OMIM:122000]
synonym: "posterior polymorphous corneal dystrophy type 1" EXACT [DOID:0110855, MONDORULE:1]
synonym: "PPCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122000]
synonym: "Ppcd1" EXACT [DOID:0110855]
xref: DOID:0110855 {source="MONDO:equivalentTo"}
xref: GARD:18212 {source="MONDO:GARD"}
xref: ICD10CM:H18.50 {source="DOID:0110855"}
xref: ICD9:371.58 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:343836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:122000 {source="DOID:0110855", source="MONDO:equivalentTo"}
xref: Orphanet:98973 {source="OMIM:122000"}
xref: SCTID:29504002 {source="MONDO:equivalentTo"}
xref: UMLS:C1852555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343836"}
is_a: MONDO:0020364 {source="DC-OMIM:122000", source="DOID:0110855", source="MONDO:Redundant", source="OMIM:122000"} ! posterior polymorphous corneal dystrophy
intersection_of: MONDO:0020364 ! posterior polymorphous corneal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15804 ! OVOL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1368" xsd:anyURI

[Term]
id: MONDO:0007379
name: Meesmann corneal dystrophy
def: "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." [Orphanet:98954]
subset: gard_rare {source="GARD:9688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98954"}
subset: orphanet_rare {source="Orphanet:98954"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy, juvenile epithelial of Meesmann" RELATED [GARD:0009688]
synonym: "corneal dystrophy, juvenile epithelial, of Meesmann" RELATED [OMIM:122100]
synonym: "corneal dystrophy, Meesmann" RELATED [MONDO:Lexical, OMIM:122100]
synonym: "corneal dystrophy, Meesmann epithelial" RELATED [OMIM:122100]
synonym: "juvenile epithelial of Meesmann corneal dystrophy" EXACT [NCIT:C84795]
synonym: "juvenile hereditary epithelial dystrophy" EXACT [DOID:0060451]
synonym: "juvenile hereditary epithelial dystrophy of Meesmann" EXACT [Orphanet:98954]
synonym: "MECD" EXACT ABBREVIATION [DOID:0060451, MONDO:Lexical, OMIM:122100, Orphanet:98954]
synonym: "Meesman dystrophy" RELATED [GARD:0009688]
synonym: "Meesmann corneal dystrophy" EXACT [OMIM:122100]
synonym: "Meesmann corneal epithelial dystrophy" RELATED [GARD:0009688]
synonym: "stocker-Holt dystrophy" EXACT [DOID:0060451]
xref: DOID:0060451 {source="MONDO:equivalentTo"}
xref: GARD:9688 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98954/attributed", source="Orphanet:98954/ntbt", source="Orphanet:98954"}
xref: ICD10CM:H18.52 {source="DOID:0060451"}
xref: ICD9:371.51 {source="DOID:0060451"}
xref: MEDGEN:83283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053559 {source="DOID:0060451", source="Orphanet:98954", source="MONDO:equivalentTo", source="Orphanet:98954/e"}
xref: NCIT:C84795 {source="DOID:0060451", source="MONDO:equivalentTo"}
xref: OMIMPS:122100 {source="MONDO:equivalentTo"}
xref: Orphanet:98954 {source="DOID:0060451", source="MONDO:equivalentTo", source="OMIM:122100"}
xref: SCTID:1674008 {source="DOID:0060451", source="MONDO:equivalentTo"}
xref: SCTID:193833008 {source="DOID:0060451"}
xref: UMLS:C0339277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83283"}
is_a: MONDO:0000763 {source="DOID:0060451"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0020212 {source="Orphanet:98954"} ! superficial corneal dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:122100"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy" xsd:anyURI {source="GARD:0009688"}

[Term]
id: MONDO:0007380
name: lattice corneal dystrophy type I
def: "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." [Orphanet:98964]
subset: gard_rare {source="GARD:9678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98964"}
subset: orphanet_rare {source="Orphanet:98964"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Biber-Haab-Dimmer dystrophy" EXACT [Orphanet:98964]
synonym: "CDL1" RELATED ABBREVIATION [OMIM:122200]
synonym: "classic lattice corneal dystrophy" EXACT [Orphanet:98964]
synonym: "corneal dystrophy, lattice type 1" RELATED [GARD:0009678, OMIM:122200]
synonym: "corneal dystrophy, lattice type I" RELATED [MONDO:Lexical, OMIM:122200]
synonym: "lattice corneal dystrophy type 1" EXACT [Orphanet:98964]
synonym: "lattice corneal dystrophy, type 1" RELATED [OMIM:122200]
synonym: "LCD" RELATED ABBREVIATION [OMIM:122200]
synonym: "Lcd1" EXACT [MONDO:Lexical, OMIM:122200, Orphanet:98964]
synonym: "LCDI" EXACT ABBREVIATION [Orphanet:98964]
xref: GARD:9678 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98964/attributed", source="Orphanet:98964/ntbt", source="Orphanet:98964"}
xref: MEDGEN:305533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537881 {source="Orphanet:98964", source="MONDO:equivalentTo", source="Orphanet:98964/e"}
xref: OMIM:122200 {source="Orphanet:98964", source="MONDO:equivalentTo", source="Orphanet:98964/e"}
xref: Orphanet:98964 {source="MONDO:equivalentTo", source="OMIM:122200"}
xref: SCTID:419197009 {source="MONDO:equivalentTo"}
xref: UMLS:C1690006 {source="MEDGEN:305533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004686 {source="https://orcid.org/0000-0001-5208-3432"} ! lattice corneal dystrophy
is_a: MONDO:0020213 {source="Orphanet:98964"} ! stromal corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI

[Term]
id: MONDO:0007381
name: epithelial recurrent erosion dystrophy
def: "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." [Orphanet:293381]
subset: gard_rare {source="GARD:17338", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293381"}
subset: orphanet_rare {source="Orphanet:293381"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal erosions, recurring hereditary" RELATED [OMIM:122400]
synonym: "dystrophia Helsinglandica" EXACT [Orphanet:293381]
synonym: "dystrophia Smolandiensis" EXACT [Orphanet:293381]
synonym: "epithelial recurrent erosion dystrophy" EXACT [MONDO:Lexical, OMIM:122400]
synonym: "ERED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122400, Orphanet:293381]
synonym: "recurrent hereditary corneal erosions" EXACT [Orphanet:293381]
xref: DOID:0070337 {source="MONDO:equivalentTo"}
xref: GARD:17338 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:293381/attributed", source="Orphanet:293381/ntbt", source="Orphanet:293381"}
xref: MEDGEN:342263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565155 {source="MONDO:equivalentTo"}
xref: OMIM:122400 {source="Orphanet:293381", source="MONDO:equivalentTo", source="Orphanet:293381/e"}
xref: Orphanet:293381 {source="MONDO:equivalentTo", source="OMIM:122400"}
xref: SCTID:715908008 {source="MONDO:equivalentTo"}
xref: UMLS:C1852551 {source="MEDGEN:342263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020212 {source="Orphanet:293381"} ! superficial corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2194 {source="MONDO:mim2gene_medgen"} ! COL17A1

[Term]
id: MONDO:0007382
name: Ramos-Arroyo syndrome
def: "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." [Orphanet:1051]
subset: gard_rare {source="GARD:4636", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1051"}
subset: ordo_malformation_syndrome {source="Orphanet:1051"}
subset: orphanet_rare {source="Orphanet:1051"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED OMO:0003005 []
synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED OMO:0003005 []
synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED [GARD:0004636]
synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [GARD:0004636]
synonym: "corneal anesthesia-deafness-intellectual disability syndrome" EXACT [Orphanet:1051]
synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED [OMIM:122430]
synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [OMIM:122430]
synonym: "Ramos Arroyo Clark syndrome" RELATED [GARD:0004636]
synonym: "Ramos-Arroyo syndrome" EXACT [OMIM:122430]
xref: GARD:4636 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1051/attributed", source="Orphanet:1051/ntbt", source="Orphanet:1051"}
xref: MEDGEN:418932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535286 {source="MONDO:equivalentTo"}
xref: OMIM:122430 {source="Orphanet:1051/e", source="MONDO:equivalentTo", source="Orphanet:1051"}
xref: Orphanet:1051 {source="MONDO:equivalentTo", source="OMIM:122430"}
xref: UMLS:C2930866 {source="MEDGEN:418932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1051", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0007383
name: Stern-Lubinsky-Durrie syndrome
def: "Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." [Orphanet:3194]
subset: gard_rare {source="GARD:1531", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3194"}
subset: ordo_malformation_syndrome {source="Orphanet:3194"}
subset: orphanet_rare {source="Orphanet:3194"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cdo syndrome" RELATED [OMIM:122440]
synonym: "corneal dystrophy epithelial and short stature" RELATED [GARD:0001531]
synonym: "corneal dystrophy, epithelial, with skin and skeletal changes" RELATED [OMIM:122440]
synonym: "corneo-dermato-osseous syndrome" EXACT [Orphanet:3194]
synonym: "CORNEODERMATOOSSEOUS syndrome" RELATED [OMIM:122440]
synonym: "Stern Lubinsky Durrie syndrome" RELATED [GARD:0001531]
xref: GARD:1531 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:3194", source="Orphanet:3194/attributed", source="Orphanet:3194/ntbt"}
xref: MEDGEN:342260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536444 {source="Orphanet:3194/e", source="Orphanet:3194"}
xref: MESH:C537488 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"}
xref: OMIM:122440 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"}
xref: Orphanet:3194 {source="MONDO:equivalentTo", source="OMIM:122440"}
xref: SCTID:723584003 {source="MONDO:equivalentTo"}
xref: UMLS:C1852542 {source="MEDGEN:342260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0019287 {source="Orphanet:3194"} ! ectodermal dysplasia syndrome
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0007384
name: congenital trigeminal anesthesia
def: "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." [Orphanet:231013]
subset: gard_rare {source="GARD:10034", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231013"}
subset: orphanet_rare {source="Orphanet:231013"}
subset: rare
synonym: "corneal hypesthesia, familial" RELATED [OMIM:122450]
synonym: "familial trigeminal anaesthesia" RELATED OMO:0003005 []
synonym: "familial trigeminal anesthesia" RELATED [GARD:0010034]
synonym: "trigeminal anesthesia, familial" RELATED [OMIM:122450]
xref: GARD:10034 {source="MONDO:GARD"}
xref: ICD10CM:G50.8 {source="Orphanet:231013/attributed", source="Orphanet:231013/ntbt", source="Orphanet:231013"}
xref: MEDGEN:342259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536440 {source="MONDO:equivalentTo"}
xref: OMIM:122450 {source="Orphanet:231013", source="MONDO:equivalentTo", source="Orphanet:231013/e"}
xref: Orphanet:231013 {source="OMIM:122450", source="MONDO:equivalentTo"}
xref: SCTID:763218005 {source="MONDO:equivalentTo"}
xref: UMLS:C1852541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342259"}
is_a: MONDO:0020127 {source="Orphanet:231013"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007385
name: idiopathic spontaneous coronary artery dissection
subset: gard_rare {source="GARD:10822", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:458718"}
subset: orphanet_rare {source="Orphanet:458718"}
subset: rare
synonym: "coronary artery dissection, spontaneous" RELATED [OMIM:122455]
synonym: "idiopathic SCAD" EXACT [Orphanet:458718]
xref: GARD:10822 {source="MONDO:GARD"}
xref: ICD10CM:I25.4 {source="Orphanet:458718", source="Orphanet:458718/ntbt"}
xref: MEDGEN:377701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565153 {source="MONDO:equivalentTo"}
xref: OMIM:122455 {source="MONDO:equivalentTo", source="Orphanet:458718", source="Orphanet:458718/e"}
xref: Orphanet:458718 {source="MONDO:equivalentTo"}
xref: UMLS:C1852540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377701"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0007386
name: obsolete human coronavirus sensitivity
synonym: "Coronavirus 229E susceptibility" RELATED [OMIM:122460]
synonym: "HCVS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122460]
synonym: "human coronavirus sensitivity" RELATED [MONDO:Lexical, OMIM:122460]
xref: OMIM:122460 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0007387
name: Cornelia de Lange syndrome 1
def: "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Brachmann-De Lange syndrome" RELATED [OMIM:122470]
synonym: "Cdl" RELATED [OMIM:122470]
synonym: "CDLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122470]
synonym: "Cornelia DE Lange syndrome 1" RELATED [OMIM:122470]
synonym: "Cornelia de Lange syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:122470]
synonym: "Cornelia de Lange syndrome caused by mutation in NIPBL" EXACT [MONDO:design_pattern]
synonym: "Cornelia De Lange syndrome type 1" EXACT [MONDORULE:1, OMIM:122470]
synonym: "De Lange syndrome" RELATED [OMIM:122470]
synonym: "NIPBL Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "typus Degenerativus Amstelodamensis" RELATED [OMIM:122470]
xref: DOID:0080505 {source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1645760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:122470 {source="MONDO:equivalentTo"}
xref: Orphanet:199 {source="OMIM:122470"}
xref: SCTID:40354009 {source="MONDO:equivalentTo"}
xref: UMLS:C4551851 {source="MEDGEN:1645760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016033 {source="DC-OMIM:122470", source="MONDO:Redundant", source="OMIM:122470"} ! Cornelia de Lange syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28862 ! NIPBL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28862 {source="MONDO:mim2gene_medgen"} ! NIPBL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007388
name: congenitally short costocoracoid ligament
def: "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour." [Orphanet:2391]
subset: gard_rare {source="GARD:1551", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2391"}
subset: ordo_malformation_syndrome {source="Orphanet:2391"}
subset: orphanet_rare {source="Orphanet:2391"}
subset: rare
synonym: "congenital shortness of the costocoracoid ligament" RELATED [GARD:0001551]
synonym: "costocoracoid ligament congenitally short" RELATED [GARD:0001551]
synonym: "costocoracoid ligament, congenitally short" RELATED [OMIM:122580]
synonym: "fixation of the scapula to the first rib by a congenitally short costocoracoid ligament" RELATED [GARD:0001551]
xref: GARD:1551 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:2391", source="Orphanet:2391/ntbt"}
xref: MEDGEN:342257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536448 {source="Orphanet:2391/e", source="MONDO:equivalentTo", source="Orphanet:2391"}
xref: OMIM:122580 {source="Orphanet:2391/e", source="MONDO:equivalentTo", source="Orphanet:2391"}
xref: Orphanet:2391 {source="OMIM:122580", source="MONDO:equivalentTo"}
xref: SCTID:725101002 {source="MONDO:equivalentTo"}
xref: UMLS:C1852523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342257"}
is_a: MONDO:0015929 {source="Orphanet:2391"} ! thoracic malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1551/costocoracoid-ligament-congenitally-short" xsd:anyURI {source="GARD:0001551"}

[Term]
id: MONDO:0007389
name: spondylocostal dysostosis 5
def: "Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene." [MONDO:patterns/disease_series_by_gene]
comment: May be AD or AR
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="NORD:1915", source="MONDO:NORD"}
subset: rare
synonym: "costovertebral segmentation anomalies" EXACT [OMIM:122600]
synonym: "polydysspondyly" RELATED [OMIM:122600]
synonym: "SCDO5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122600]
synonym: "scoliosis, congenital, with or without rib anomalies" EXACT [OMIM:122600]
synonym: "spondylocostal dysostosis 5" EXACT [MONDO:Lexical, OMIM:122600]
synonym: "spondylocostal dysostosis caused by mutation in TBX6" EXACT [MONDO:design_pattern]
synonym: "spondylocostal dysostosis type 5" EXACT [MONDORULE:1, OMIM:122600]
synonym: "spondylocostal dysplasia" RELATED [OMIM:122600]
synonym: "spondylothoracic dysostosis" EXACT DEPRECATED [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/, OMIM:122600]
synonym: "Spondylothoracic Dysplasia" RELATED [NORD:1915]
synonym: "TBX6 spondylocostal dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112363 {source="MONDO:equivalentTo"}
xref: MEDGEN:901825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1915 {source="MONDO:NORD"}
xref: OMIM:122600 {source="MONDO:equivalentTo"}
xref: Orphanet:1797 {source="MONDO:relatedTo", source="OMIM:122600"}
xref: UMLS:C4083048 {source="MONDO:equivalentTo", source="MEDGEN:901825", source="MONDO:MEDGEN"}
is_a: MONDO:0000359 {source="DC-OMIM:122600", source="MONDO:Redundant", source="OMIM:122600"} ! spondylocostal dysostosis
intersection_of: MONDO:0000359 ! spondylocostal dysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11605 ! TBX6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11605 {source="MONDO:mim2gene_medgen"} ! TBX6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007390
name: coumarin resistance
synonym: "coumarin resistance" EXACT [OMIM:122700]
synonym: "coumarin sensitivity" RELATED [OMIM:122700]
synonym: "coumarin, poor metabolism of" RELATED [OMIM:122700]
synonym: "warfarin resistance" RELATED [OMIM:122700]
synonym: "warfarin sensitivity" RELATED [OMIM:122700]
xref: DOID:0080665 {source="MONDO:equivalentTo"}
xref: MEDGEN:148193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563039 {source="MONDO:equivalentTo"}
xref: OMIM:122700 {source="MONDO:equivalentTo"}
xref: SCTID:726543008 {source="MONDO:equivalentTo"}
xref: UMLS:C0750384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148193"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007391
name: coxa vara
def: "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." [MESH:D060905]
subset: otar {source="MONDO:OTAR"}
synonym: "coxa vara" EXACT [MONDO:ambiguous, OMIM:122750]
synonym: "coxa vara (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "coxa vara, congenital" RELATED [GARD:0008750]
xref: EFO:1001298 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002812 {source="MONDO:otherHierarchy"}
xref: MEDGEN:1790477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060905 {source="MONDO:equivalentTo"}
xref: OMIM:122750 {source="MONDO:equivalentTo"}
xref: UMLS:C5551440 {source="MEDGEN:1790477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "coxa vara (disease)" xsd:string

[Term]
id: MONDO:0007392
name: coxoauricular syndrome
def: "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." [Orphanet:1508]
subset: gard_rare {source="GARD:1558", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1508"}
subset: ordo_malformation_syndrome {source="Orphanet:1508"}
subset: orphanet_rare {source="Orphanet:1508"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coxoauricular syndrome" EXACT [OMIM:122780]
xref: GARD:1558 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1508/attributed", source="Orphanet:1508/ntbt", source="Orphanet:1508"}
xref: MEDGEN:343827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565148 {source="MONDO:equivalentTo"}
xref: OMIM:122780 {source="Orphanet:1508/e", source="MONDO:equivalentTo", source="Orphanet:1508"}
xref: Orphanet:1508 {source="OMIM:122780", source="MONDO:equivalentTo"}
xref: SCTID:732248005 {source="MONDO:equivalentTo"}
xref: UMLS:C1852513 {source="MEDGEN:343827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 {source="Orphanet:1508"} ! bone disorder
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:1508", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome" xsd:anyURI {source="GARD:0001558"}

[Term]
id: MONDO:0007393
name: cranioacrofacial syndrome
synonym: "Cranioacrofacial syndrome" EXACT [OMIM:122850]
xref: MEDGEN:338947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565147 {source="MONDO:equivalentTo"}
xref: OMIM:122850 {source="MONDO:equivalentTo"}
xref: Orphanet:1339 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1852512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338947"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007394
name: obsolete craniodiaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0009031

[Term]
id: MONDO:0007395
name: craniofacial-deafness-hand syndrome
def: "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features." [Orphanet:1529]
subset: gard_rare {source="GARD:1571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1529"}
subset: ordo_malformation_syndrome {source="Orphanet:1529"}
subset: orphanet_rare {source="Orphanet:1529"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122880, Orphanet:1529]
synonym: "craniofacial deafness hand syndrome" RELATED [GARD:0001571]
synonym: "craniofacial-deafness-hand syndrome" EXACT [MONDO:Lexical, OMIM:122880]
synonym: "features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss" RELATED [GARD:0001571]
synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [Orphanet:1529]
xref: DOID:0111336 {source="MONDO:equivalentTo"}
xref: GARD:1571 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1529/attributed", source="Orphanet:1529/ntbt", source="Orphanet:1529"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:377694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536453 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"}
xref: OMIM:122880 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"}
xref: Orphanet:1529 {source="MONDO:equivalentTo", source="OMIM:122880"}
xref: SCTID:702362004 {source="MONDO:equivalentTo"}
xref: UMLS:C1852510 {source="MEDGEN:377694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:1529"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1529", source="Orphanet:1529/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8617 {source="MONDO:mim2gene_medgen"} ! PAX3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome" xsd:anyURI {source="GARD:0001571"}

[Term]
id: MONDO:0007396
name: dysostosis, Stanescu type
def: "Stanescu type dysostosis is a rare form of osteosclerosis." [Orphanet:1798]
subset: gard_rare {source="GARD:2016", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1798"}
subset: ordo_malformation_syndrome {source="Orphanet:1798"}
subset: orphanet_rare {source="Orphanet:1798"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant osteosclerosis, Stanescu type" EXACT [Orphanet:1798]
synonym: "craniofacial dysostosis with diaphyseal hyperplasia" RELATED [OMIM:122900]
synonym: "craniofacial dysostosis-diaphyseal hyperplasia syndrome" EXACT [Orphanet:1798]
synonym: "dysostosis Stanescu type" RELATED [GARD:0002016]
synonym: "osteosclerosis, Stanescu type" RELATED [OMIM:122900]
synonym: "Stanescu osteosclerosis" EXACT [Orphanet:1798]
xref: GARD:2016 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:1798", source="Orphanet:1798/attributed", source="Orphanet:1798/ntbt"}
xref: MEDGEN:140931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562974 {source="MONDO:equivalentTo"}
xref: OMIM:122900 {source="MONDO:equivalentTo", source="Orphanet:1798", source="Orphanet:1798/e"}
xref: Orphanet:1798 {source="MONDO:equivalentTo", source="OMIM:122900"}
xref: SCTID:254124008 {source="MONDO:equivalentTo"}
xref: UMLS:C0432263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140931"}
is_a: MONDO:0002933 {source="Orphanet:1798"} ! osteosclerosis
relationship: disease_has_feature HP:0011001 {source="Orphanet:1798"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:1798", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density

[Term]
id: MONDO:0007397
name: craniometaphyseal dysplasia, autosomal dominant
subset: gard_rare {source="GARD:1581", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMD" RELATED ABBREVIATION [OMIM:123000]
synonym: "CMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123000]
synonym: "CMDJ" RELATED ABBREVIATION [GARD:0001581]
synonym: "craniometaphyseal dysplasia Jackson type" RELATED [GARD:0001581]
synonym: "craniometaphyseal dysplasia, autosomal dominant" EXACT [MONDO:Lexical, OMIM:123000]
synonym: "craniometaphyseal dysplasia, Jackson type" RELATED [OMIM:123000]
xref: DOID:0080801 {source="MONDO:equivalentTo"}
xref: GARD:1581 {source="MONDO:GARD"}
xref: MEDGEN:338945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565145 {source="MONDO:equivalentTo"}
xref: OMIM:123000 {source="MONDO:equivalentTo"}
xref: Orphanet:1522 {source="OMIM:123000"}
xref: UMLS:C1852502 {source="MEDGEN:338945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015465 {source="DC-OMIM:123000"} ! craniometaphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15492 {source="MONDO:mim2gene_medgen"} ! ANKH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007398
name: craniorhiny
subset: gard_rare {source="GARD:16984", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:157832"}
subset: ordo_malformation_syndrome {source="Orphanet:157832"}
subset: orphanet_rare {source="Orphanet:157832"}
subset: rare
synonym: "craniorhiny" EXACT [OMIM:123050]
xref: GARD:16984 {source="MONDO:GARD"}
xref: ICD10CM:Q30.8 {source="Orphanet:157832", source="Orphanet:157832/ntbt"}
xref: MEDGEN:338944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565144 {source="MONDO:equivalentTo"}
xref: OMIM:123050 {source="MONDO:equivalentTo", source="Orphanet:157832", source="Orphanet:157832/e"}
xref: Orphanet:157832 {source="OMIM:123050", source="MONDO:equivalentTo"}
xref: UMLS:C1852501 {source="MONDO:equivalentTo", source="MEDGEN:338944", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007399
name: TWIST1-related craniosynostosis
def: "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." [https://clinicalgenome.org/affiliation/40059/, MONDO:patterns/disease_series_by_gene, PMID:17343269]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18045", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1606", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniostenosis" RELATED [OMIM:123100]
synonym: "craniosynostosis 1" EXACT [MONDO:Lexical, OMIM:123100]
synonym: "craniosynostosis type 1" EXACT [MONDORULE:1, OMIM:123100]
synonym: "CRS" RELATED ABBREVIATION [OMIM:123100]
synonym: "CRS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123100]
synonym: "Primary Craniosynostosis" EXACT [NORD:1606]
synonym: "TWIST1-related craniosynostosis" EXACT CLINGEN_LABEL []
xref: GARD:18045 {source="MONDO:GARD"}
xref: MEDGEN:1646646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1606 {source="MONDO:NORD"}
xref: OMIM:123100 {source="MONDO:equivalentTo"}
xref: Orphanet:35093 {source="OMIM:123100"}
xref: Orphanet:35099 {source="OMIM:123100"}
xref: Orphanet:63440 {source="OMIM:123100"}
xref: SCTID:57219006 {source="MONDO:equivalentTo"}
xref: UMLS:C4551902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646646"}
is_a: MONDO:0015469 {source="MONDO:Redundant", source="OMIM:123100", source="https://orcid.org/0000-0002-6601-2165"} ! craniosynostosis
is_a: MONDO:0018971 {source="Orphanet:63440/btnt"} ! isolated oxycephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12428 {source="MONDO:mim2gene_medgen"} ! TWIST1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2659" xsd:anyURI

[Term]
id: MONDO:0007400
name: Jackson-Weiss syndrome
def: "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." [Orphanet:1540]
subset: gard_rare {source="GARD:6796", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1306"}
subset: ordo_disorder {source="Orphanet:1540"}
subset: ordo_malformation_syndrome {source="Orphanet:1540"}
subset: orphanet_rare {source="Orphanet:1540"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" RELATED [OMIM:123150]
synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [Orphanet:1540]
synonym: "Jackson-Weiss syndrome" EXACT [MONDO:Lexical, OMIM:123150]
synonym: "JWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:123150, Orphanet:1540]
xref: DOID:0111337 {source="MONDO:equivalentTo"}
xref: GARD:6796 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1540/attributed", source="Orphanet:1540/ntbt", source="Orphanet:1540"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:208653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537559 {source="Orphanet:1540", source="MONDO:equivalentTo", source="Orphanet:1540/e"}
xref: NCIT:C123814 {source="MONDO:equivalentTo"}
xref: NORD:1306 {source="MONDO:NORD"}
xref: OMIM:123150 {source="Orphanet:1540", source="MONDO:equivalentTo", source="Orphanet:1540/e"}
xref: Orphanet:1540 {source="OMIM:123150", source="MONDO:equivalentTo"}
xref: SCTID:709105005 {source="MONDO:equivalentTo"}
xref: UMLS:C0795998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208653"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123814"} ! syndromic disease
is_a: MONDO:0019796 {source="Orphanet:1540"} ! acrocephalosyndactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome" xsd:anyURI {source="GARD:0006796"}

[Term]
id: MONDO:0007401
name: craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
def: "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." [Orphanet:1538]
subset: gard_rare {source="GARD:998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1538"}
subset: ordo_malformation_syndrome {source="Orphanet:1538"}
subset: orphanet_rare {source="Orphanet:1538"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Braddock Jones Superneau syndrome" RELATED [GARD:0000998]
synonym: "Braddock-Jones-Superneau syndrome" EXACT [GARD:0001592, Orphanet:1538]
synonym: "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" EXACT [GARD:0001592]
synonym: "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus" RELATED [GARD:0001592]
synonym: "HDCPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123155]
synonym: "hydrocephalus, autosomal dominant" RELATED [MONDO:Lexical, OMIM:123155]
synonym: "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus" RELATED [GARD:0001592]
xref: GARD:998 {source="MONDO:GARD"}
xref: ICD10CM:Q03.1 {source="Orphanet:1538", source="Orphanet:1538/attributed", source="Orphanet:1538/ntbt"}
xref: ICD10CM:Q75.0 {source="Orphanet:1538", source="Orphanet:1538/attributed", source="Orphanet:1538/ntbt"}
xref: MEDGEN:325006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563973 {source="MONDO:equivalentTo"}
xref: OMIM:123155 {source="Orphanet:1538/e", source="MONDO:equivalentTo", source="Orphanet:1538", source="GARD:0001592"}
xref: Orphanet:1538 {source="MONDO:equivalentTo", source="OMIM:123155", source="GARD:0001592"}
xref: SCTID:720813007 {source="MONDO:equivalentTo"}
xref: UMLS:C1838347 {source="MEDGEN:325006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001150 {source="DC-OMIM:123155", source="MESH:C563973"} ! hydrocephalus
is_a: MONDO:0015704 {source="Orphanet:1538"} ! familial scaphocephaly syndrome
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus" xsd:anyURI {source="GARD:0001592"}

[Term]
id: MONDO:0007402
name: creatine phosphokinase, elevated serum
synonym: "CPK, elevated serum" RELATED [OMIM:123320]
synonym: "creatine phosphokinase, elevated serum" EXACT [OMIM:123320]
synonym: "hyperCKemia, idiopathic" RELATED [OMIM:123320]
xref: MEDGEN:69128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:123320 {source="MONDO:equivalentTo"}
xref: UMLS:C0241005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:69128"}
is_a: MONDO:0003847 {source="OMIM:123320/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="MONDO:mim2gene_medgen"} ! CAV3

[Term]
id: MONDO:0007403
name: inherited Creutzfeldt-Jakob disease
def: "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." [Orphanet:282166]
subset: gard_rare {source="GARD:17307", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:282166"}
subset: orphanet_rare {source="Orphanet:282166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CJD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123400]
synonym: "Creutzfeldt-Jakob disease" RELATED [MONDO:Lexical, OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, familial" RELATED [OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, Heidenhain variant" RELATED [OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, sporadic" RELATED [OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, variant" RELATED [OMIM:123400]
synonym: "Creutzfeldt-Jakob disease, variant, resistance to" EXACT [OMIM:123400, OMIM:genemap2]
synonym: "hereditary Creutzfeldt Jacob disease" EXACT [MONDO:patterns/hereditary]
synonym: "inherited CJD" EXACT [Orphanet:282166]
xref: GARD:17307 {source="MONDO:GARD"}
xref: ICD10CM:A81.0 {source="Orphanet:282166", source="Orphanet:282166/attributed", source="Orphanet:282166/ntbt"}
xref: icd11.foundation:607607042 {source="MONDO:equivalentTo", source="Orphanet:282166", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:155837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200189 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:123400 {source="MONDO:equivalentTo", source="Orphanet:282166", source="Orphanet:282166/e"}
xref: Orphanet:204 {source="OMIM:123400"}
xref: Orphanet:282166 {source="MONDO:equivalentTo", source="OMIM:123400"}
xref: SCTID:715807002 {source="MONDO:equivalentTo"}
xref: UMLS:C0751254 {source="MEDGEN:155837", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005357 {source="MONDO:Redundant"} ! Creutzfeldt Jacob disease
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0005429 {source="https://orcid.org/0000-0002-4142-7153"} ! prion disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0005357 ! Creutzfeldt Jacob disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007404
name: Cri-du-chat syndrome
def: "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." [Orphanet:281]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:6213", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1015"}
subset: ordo_disorder {source="Orphanet:281"}
subset: ordo_malformation_syndrome {source="Orphanet:281"}
subset: orphanet_rare {source="Orphanet:281"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5p deletion syndrome" EXACT [DOID:12580, NCIT:C34518]
synonym: "5p minus syndrome" RELATED [GARD:0006213]
synonym: "5p partial monosomy syndrome" EXACT [NCIT:C34518]
synonym: "5p- syndrome" RELATED [GARD:0006213]
synonym: "Cat Cry syndrome" RELATED [OMIM:123450]
synonym: "Cat-Cry syndrome" EXACT [NCIT:C34518]
synonym: "chromosome 5 short arm deletion syndrome" EXACT [DOID:12580]
synonym: "chromosome 5P deletion syndrome" RELATED [OMIM:123450]
synonym: "chromosome 5p deletion syndrome" EXACT [DOID:12580]
synonym: "chromosome 5p- syndrome" RELATED [GARD:0006213]
synonym: "Cri du Chat Syndrome" EXACT [NORD:1015]
synonym: "Cri du chat syndrome" EXACT [Orphanet:281]
synonym: "Cri-du-chat syndrome" EXACT [DOID:12580, ICD9CM:758.31, OMIM:123450]
synonym: "deletion 5p" EXACT [Orphanet:281]
synonym: "monosomy 5p" RELATED [Orphanet:281]
synonym: "monosomy type 5p" EXACT [MONDORULE:4, Orphanet:281]
xref: DECIPHER:2 {source="MONDO:equivalentTo"}
xref: DOID:12580 {source="MONDO:equivalentTo"}
xref: GARD:6213 {source="MONDO:GARD"}
xref: ICD10CM:Q93.4 {source="Orphanet:281/inclusion", source="DOID:12580", source="Orphanet:281", source="Orphanet:281/ntbt"}
xref: ICD9:758.31 {source="DOID:12580", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10011385 {source="Orphanet:281", source="Orphanet:281/e"}
xref: MEDGEN:41345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538482 {source="Orphanet:281", source="Orphanet:281/e"}
xref: MESH:D003410 {source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="Orphanet:281/e"}
xref: NANDO:1200684 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200961 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34518 {source="DOID:12580", source="MONDO:equivalentTo"}
xref: NORD:1015 {source="MONDO:NORD"}
xref: OMIM:123450 {source="DOID:12580", source="MONDO:equivalentTo", source="Orphanet:281", source="Orphanet:281/e"}
xref: Orphanet:281 {source="OMIM:123450", source="MONDO:equivalentTo"}
xref: SCTID:70173007 {source="DOID:12580", source="MONDO:equivalentTo"}
xref: UMLS:C0010314 {source="MEDGEN:41345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DOID:12580"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34518", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0016887 {source="Orphanet:281"} ! partial deletion of the short arm of chromosome 5
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:281", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0007405
name: Crouzon syndrome
def: "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." [Orphanet:207]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1018"}
subset: ordo_disorder {source="Orphanet:207"}
subset: ordo_malformation_syndrome {source="Orphanet:207"}
subset: orphanet_rare {source="Orphanet:207"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cfd1" RELATED [GARD:0006206]
synonym: "craniofacial dysostosis" EXACT [DOID:2339]
synonym: "craniofacial dysostosis type 1" RELATED [GARD:0006206]
synonym: "craniofacial dysostosis, type 1" RELATED [OMIM:123500]
synonym: "Crouzon craniofacial dysostosis" EXACT [OMIM:123500, Orphanet:207]
synonym: "Crouzon disease" RELATED [GARD:0006206]
synonym: "Crouzon syndrome" EXACT [OMIM:123500]
synonym: "Crouzon's disease" RELATED [DOID:2339]
xref: DOID:2339 {source="MONDO:equivalentTo"}
xref: GARD:6206 {source="MONDO:GARD"}
xref: ICD10CM:Q75.1 {source="Orphanet:207/ntbt", source="Orphanet:207/inclusion", source="Orphanet:207", source="DOID:2339"}
xref: icd11.foundation:1535725821 {source="Orphanet:207", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003394 {source="MONDO:equivalentTo", source="DOID:2339"}
xref: NANDO:1200666 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200845 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84653 {source="MONDO:equivalentTo", source="DOID:2339"}
xref: NORD:1018 {source="MONDO:NORD"}
xref: OMIM:123500 {source="Orphanet:207", source="MONDO:equivalentTo", source="Orphanet:207/e", source="DOID:2339"}
xref: Orphanet:207 {source="MONDO:equivalentTo", source="OMIM:123500"}
xref: SCTID:28861008 {source="MONDO:equivalentTo", source="DOID:2339"}
xref: UMLS:C0010273 {source="MEDGEN:1162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:207", source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0018234 {source="DOID:2339/inferred", source="MESH:D003394", source="MONDO:Redundant", source="NCIT:C84653", source="Orphanet:207/inferred"} ! dysostosis
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome" xsd:anyURI {source="GARD:0006206"}

[Term]
id: MONDO:0007406
name: cryofibrinogenemia, familial primary
synonym: "cryofibrinogenemia, familial primary" EXACT [OMIM:123540]
xref: MEDGEN:377679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565142 {source="MONDO:equivalentTo"}
xref: OMIM:123540 {source="MONDO:equivalentTo"}
xref: UMLS:C1852457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377679"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0022904 {source="https://orcid.org/0000-0001-5208-3432"} ! cryofibrinogenemia

[Term]
id: MONDO:0007407
name: Cryoglobulinemic vasculitis
def: "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia." [Orphanet:91138]
subset: gard_rare {source="GARD:6386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1452"}
subset: ordo_disorder {source="Orphanet:91138"}
subset: orphanet_rare {source="Orphanet:91138"}
subset: rare
synonym: "cryoglobulinemia, familial mixed" RELATED [OMIM:123550]
synonym: "essential cryoglobulinemia" EXACT [Orphanet:91138]
synonym: "essential mixed cryoglobulinemia" EXACT [Orphanet:91138]
synonym: "familial mixed cryoglobulinemia" RELATED [GARD:0006386]
synonym: "MC" EXACT ABBREVIATION [Orphanet:91138]
synonym: "Meltzer syndrome" RELATED [OMIM:123550]
synonym: "Mixed Cryoglobulinemia" EXACT [NORD:1452]
synonym: "mixed cryoglobulinemia" EXACT [Orphanet:91138]
synonym: "primary cryoglobulinemia" EXACT [Orphanet:91138]
xref: GARD:6386 {source="MONDO:GARD"}
xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:91138/ntbt", source="Orphanet:91138"}
xref: icd11.foundation:55133785 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:91138"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10027756 {source="Orphanet:91138/e", source="Orphanet:91138"}
xref: MEDGEN:343814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565141 {source="MONDO:equivalentTo"}
xref: NORD:1452 {source="MONDO:NORD"}
xref: OMIM:123550 {source="Orphanet:91138/e", source="MONDO:equivalentTo", source="Orphanet:91138"}
xref: Orphanet:91138 {source="OMIM:123550", source="MONDO:equivalentTo"}
xref: SCTID:190815001 {source="MONDO:equivalentTo"}
xref: UMLS:C1852456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343814"}
is_a: MONDO:0015491 {source="Orphanet:91138"} ! immune complex mediated vasculitis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:91138", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0007408
name: cryptotia, familial
synonym: "cryptotia, familial" EXACT [OMIM:123557]
xref: MEDGEN:342243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565140 {source="MONDO:equivalentTo"}
xref: OMIM:123557 {source="MONDO:equivalentTo"}
xref: UMLS:C1852455 {source="MEDGEN:342243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007409
name: cryptomicrotia-brachydactyly-excess fingertip arch syndrome
def: "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." [Orphanet:1547]
subset: gard_rare {source="GARD:8174", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1547"}
subset: ordo_malformation_syndrome {source="Orphanet:1547"}
subset: orphanet_rare {source="Orphanet:1547"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch" RELATED [GARD:0008174]
synonym: "Cryptomicrotia brachydactyly syndrome" RELATED [GARD:0008174]
synonym: "Cryptomicrotia brachydactyly syndrome excess fingertip arch" RELATED [GARD:0008174]
synonym: "CRYPTOMICROTIA-brachydactyly syndrome" RELATED [OMIM:123560]
synonym: "Cryptomicrotia-brachydactyly syndrome" EXACT [Orphanet:1547]
synonym: "Tonoki Ohura Niikawa syndrome" RELATED [GARD:0008174]
synonym: "Tonoki-Ohura-Niikawa syndrome" EXACT [Orphanet:1547]
xref: GARD:8174 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1547", source="Orphanet:1547/attributed", source="Orphanet:1547/ntbt"}
xref: MEDGEN:377678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536219 {source="MONDO:equivalentTo"}
xref: OMIM:123560 {source="MONDO:equivalentTo", source="Orphanet:1547", source="Orphanet:1547/e"}
xref: Orphanet:1547 {source="OMIM:123560", source="MONDO:equivalentTo"}
xref: SCTID:725096002 {source="MONDO:equivalentTo"}
xref: UMLS:C1852454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377678"}
is_a: MONDO:0015161 {source="Orphanet:1547"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1547", source="Orphanet:1547/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0007410
name: isolated cryptophthalmia
def: "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." [Orphanet:91396]
subset: gard_rare {source="GARD:16797", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91396"}
subset: ordo_morphological_anomaly {source="Orphanet:91396"}
subset: orphanet_rare {source="Orphanet:91396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ankyloblepharon, simple" RELATED [OMIM:123570]
synonym: "cryptophthalmos with microphthalmia and Peters anomaly" RELATED [OMIM:123570]
synonym: "cryptophthalmos, unilateral or bilateral, isolated" RELATED [OMIM:123570]
synonym: "nonsyndromic cryptophthalmia" EXACT [MONDO:patterns/isolated]
xref: DOID:0111717 {source="MONDO:equivalentTo"}
xref: GARD:16797 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:91396/inclusion", source="Orphanet:91396/ntbt", source="Orphanet:91396"}
xref: MEDGEN:342242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565138 {source="MONDO:equivalentTo"}
xref: OMIM:123570 {source="Orphanet:91396", source="MONDO:equivalentTo", source="Orphanet:91396/e"}
xref: Orphanet:91396 {source="OMIM:123570", source="MONDO:equivalentTo"}
xref: SCTID:718691008 {source="MONDO:equivalentTo"}
xref: UMLS:C1852453 {source="MEDGEN:342242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020153 {source="MONDO:Redundant", source="Orphanet:91396"} ! cryptophthalmia
intersection_of: MONDO:0020153 ! cryptophthalmia
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0007411
name: cutis laxa, autosomal dominant 1
def: "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADCL1" EXACT ABBREVIATION [DOID:0070130, MONDO:Lexical, OMIM:123700]
synonym: "autosomal dominant cutis laxa 1" RELATED [DOID:0070130]
synonym: "autosomal dominant cutis laxa caused by mutation in ELN" EXACT [MONDO:design_pattern]
synonym: "cutis laxa, autosomal dominant" BROAD [OMIM:123700, OMIM:genemap2]
synonym: "cutis laxa, autosomal dominant 1" EXACT [MONDO:Lexical, OMIM:123700]
synonym: "cutis laxa, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:123700]
synonym: "ELN autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070130 {source="MONDO:equivalentTo"}
xref: GARD:15055 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070130"}
xref: MEDGEN:478169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:123700 {source="DOID:0070130", source="MONDO:equivalentTo"}
xref: Orphanet:90348 {source="OMIM:123700"}
xref: UMLS:C3276539 {source="MEDGEN:478169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019571 {source="DOID:0070130", source="MONDO:Redundant", source="Orphanet:90348/btnt"} ! autosomal dominant cutis laxa
is_a: MONDO:0100237 {source="DOID:0070130/inferred", source="MONDO:Redundant", source="OMIM:123700"} ! inherited cutis laxa
intersection_of: MONDO:0019571 ! autosomal dominant cutis laxa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3327 ! ELN
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:123700"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3327 {source="MONDO:mim2gene_medgen"} ! ELN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007412
name: Beare-Stevenson cutis gyrata syndrome
def: "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." [Orphanet:1555]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:332", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1555"}
subset: ordo_malformation_syndrome {source="Orphanet:1555"}
subset: orphanet_rare {source="Orphanet:1555"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beare Stevenson syndrome" RELATED [GARD:0000332]
synonym: "Beare-Stevenson cutis gyrata syndrome" EXACT [MONDO:Lexical, OMIM:123790, Orphanet:1555]
synonym: "Beare-Stevenson syndrome" RELATED [OMIM:123790]
synonym: "BSTVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123790]
synonym: "cutis gyrata - acanthosis nigricans - craniosynostosis" RELATED [GARD:0000332]
synonym: "cutis gyrata syndrome of Beare and Stevenson" RELATED [OMIM:123790]
synonym: "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" RELATED [GARD:0000332]
xref: DOID:0050660 {source="MONDO:equivalentTo"}
xref: GARD:332 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1555", source="Orphanet:1555/attributed", source="Orphanet:1555/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:377668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565129 {source="MONDO:equivalentTo"}
xref: NCIT:C123813 {source="MONDO:equivalentTo"}
xref: OMIM:123790 {source="DOID:0050660", source="MONDO:equivalentTo", source="Orphanet:1555", source="Orphanet:1555/e"}
xref: Orphanet:1555 {source="OMIM:123790", source="MONDO:equivalentTo"}
xref: SCTID:703528008 {source="MONDO:equivalentTo"}
xref: UMLS:C1852406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377668"}
is_a: MONDO:0000426 {source="DOID:0050660", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123813"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1555"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015338 {source="Orphanet:1555", source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0021154 {source="Orphanet:1555", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:123790", source="Orphanet:1555"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome" xsd:anyURI {source="GARD:0000332"}

[Term]
id: MONDO:0007413
name: Cyprus facial-neuromusculoskeletal syndrome
def: "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." [Orphanet:2674]
subset: gard_rare {source="GARD:9487", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2674"}
subset: ordo_malformation_syndrome {source="Orphanet:2674"}
subset: orphanet_rare {source="Orphanet:2674"}
subset: rare
synonym: "CYPRUS facial neuromusculoskeletal syndrome" RELATED [OMIM:123853]
synonym: "unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects" RELATED [GARD:0009487]
xref: GARD:9487 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2674", source="Orphanet:2674/attributed", source="Orphanet:2674/ntbt"}
xref: MEDGEN:343800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536229 {source="Orphanet:2674", source="MONDO:equivalentTo", source="Orphanet:2674/e"}
xref: OMIM:123853 {source="Orphanet:2674", source="MONDO:equivalentTo", source="Orphanet:2674/e"}
xref: Orphanet:2674 {source="MONDO:equivalentTo", source="OMIM:123853"}
xref: SCTID:732261005 {source="MONDO:equivalentTo"}
xref: UMLS:C1852396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343800"}
is_a: MONDO:0015161 {source="Orphanet:2674"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0020120 {source="Orphanet:2674", source="Orphanet:2674/inferred"} ! skeletal muscle disorder
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2674", source="Orphanet:2674/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome" xsd:anyURI {source="GARD:0009487"}

[Term]
id: MONDO:0007414
name: Gorham-Stout disease
def: "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." [Orphanet:73]
subset: gard_rare {source="GARD:6542", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1200"}
subset: ordo_disorder {source="Orphanet:73"}
subset: ordo_malformation_syndrome {source="Orphanet:73"}
subset: orphanet_rare {source="Orphanet:73"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cystic angiomatosis of bone diffuse" RELATED [GARD:0006542]
synonym: "cystic angiomatosis of bone, diffuse" RELATED [OMIM:123880]
synonym: "Gorham disease" EXACT [Orphanet:73]
synonym: "Gorham syndrome" EXACT [Orphanet:73]
synonym: "Gorham-Stout disease" EXACT [OMIM:123880]
synonym: "idiopathic massive osteolysis" EXACT [Orphanet:73]
synonym: "osteolysis massive" RELATED [GARD:0006542]
synonym: "osteolysis, massive" RELATED [OMIM:123880]
synonym: "progressive massive osteolysis" EXACT [Orphanet:73]
synonym: "vanishing bone disease" EXACT [Orphanet:73]
xref: GARD:6542 {source="MONDO:GARD"}
xref: ICD10CM:M89.5 {source="Orphanet:73/attributed", source="Orphanet:73/ntbt", source="Orphanet:73"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071283 {source="Orphanet:73/e", source="Orphanet:73"}
xref: MEDGEN:45248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200878 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200880 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1200 {source="MONDO:NORD"}
xref: OMIM:123880 {source="Orphanet:73/e", source="MONDO:equivalentTo", source="Orphanet:73"}
xref: Orphanet:73 {source="OMIM:123880", source="MONDO:equivalentTo"}
xref: SCTID:1515008 {source="MONDO:equivalentTo"}
xref: UMLS:C0029438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45248"}
is_a: MONDO:0002013 {source="Orphanet:73"} ! lymphangioma
is_a: MONDO:0003157 {source="MESH:D010015"} ! disappearing bone disease
is_a: MONDO:0005554 {source="Orphanet:73"} ! rheumatic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007415
name: mitochondrial complex III deficiency nuclear type 1
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCS1L mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Complex 3 mitochondrial respiratory chain deficiency" RELATED [GARD:0008295]
synonym: "MC3DN1" RELATED ABBREVIATION [MESH:C565128, MONDO:Lexical, OMIM:124000]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 1" RELATED [OMIM:124000]
synonym: "mitochondrial complex III deficiency" RELATED [GARD:0008295]
synonym: "mitochondrial complex III deficiency caused by mutation in BCS1L" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 1" RELATED [MESH:C565128, MONDO:Lexical, OMIM:124000]
xref: DOID:0080111 {source="MONDO:equivalentTo"}
xref: GARD:15056 {source="MONDO:GARD"}
xref: MEDGEN:762097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565128 {source="MONDO:equivalentTo"}
xref: OMIM:124000 {source="DOID:0080111", source="GARD:0008295", source="MONDO:equivalentTo"}
xref: Orphanet:1460 {source="OMIM:124000", source="GARD:0008295"}
xref: Orphanet:254902 {source="OMIM:124000"}
xref: UMLS:C3541471 {source="MEDGEN:762097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 {source="DC-OMIM:124000", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0004069 {source="DOID:0080111/inferred", source="MESH:C565128", source="MONDO:Redundant", source="MONDO:indirect"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0015448 {source="DOID:0080111", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 ! BCS1L
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 {source="MONDO:mim2gene_medgen"} ! BCS1L
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency" xsd:anyURI {source="GARD:0008295"}

[Term]
id: MONDO:0007416
name: Balkan nephropathy
def: "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "AAN" RELATED ABBREVIATION [GARD:0008576]
synonym: "aristolochic acid nephropathy" EXACT [NCIT:C123025]
synonym: "Balkan endemic nephropathy" EXACT [DOID:3052, OMIM:124100]
synonym: "BEN" RELATED ABBREVIATION [GARD:0008576]
synonym: "Chinese herb endemic nephropathy" EXACT [NCIT:C123025]
synonym: "Danubian endemic familial nephropathy" EXACT [DOID:3052, OMIM:124100]
synonym: "DEFN" RELATED ABBREVIATION [DOID:3052, OMIM:124100]
synonym: "endemic nephropathy" EXACT [NCIT:C123025]
synonym: "nephropathia epidemica" RELATED [OMIM:124100]
xref: DOID:3052 {source="MONDO:equivalentTo", source="EFO:0007164"}
xref: EFO:0007164 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N15.0 {source="MONDO:equivalentTo", source="DOID:3052"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001449 {source="MONDO:equivalentTo", source="EFO:0007164", source="DOID:3052"}
xref: NCIT:C123025 {source="MONDO:equivalentTo"}
xref: NCIT:C84584 {source="MONDO:otherHierarchy", source="DOID:3052"}
xref: OMIM:124100 {source="MONDO:equivalentTo", source="DOID:3052"}
xref: SCTID:197748005 {source="DOID:3052"}
xref: SCTID:26121002 {source="MONDO:equivalentTo", source="DOID:3052"}
xref: UMLS:C0004698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:495"}
is_a: MONDO:0001085 {source="DOID:3052", source="MESH:D001449"} ! interstitial nephritis
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease

[Term]
id: MONDO:0007417
name: Darier disease
def: "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies." [Orphanet:218]
subset: gard_rare {source="GARD:6243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1329"}
subset: ordo_disorder {source="Orphanet:218"}
subset: orphanet_rare {source="Orphanet:218"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:124200]
synonym: "dar" RELATED [OMIM:124200]
synonym: "Darier disease" EXACT [OMIM:124200]
synonym: "Darier disease, acral hemorrhagic type" RELATED [OMIM:124200]
synonym: "Darier disease, segmental" RELATED [OMIM:124200]
synonym: "Darier White disease" RELATED [GARD:0006243]
synonym: "Darier's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:2734, MONDO:LexicalVariant, SCTID:268355000]
synonym: "Darier-White disease" EXACT [DOID:2734, MONDO:Lexical, OMIM:124200, Orphanet:218]
synonym: "Keratosis Follicularis" EXACT [NORD:1329]
synonym: "keratosis follicularis" EXACT [OMIM:124200, Orphanet:218]
xref: DOID:2734 {source="MONDO:equivalentTo"}
xref: GARD:6243 {source="MONDO:GARD"}
xref: ICD10CM:E50.8 {source="DOID:2734"}
xref: ICD10CM:Q82.8 {source="Orphanet:218/ntbt", source="Orphanet:218/inclusion", source="Orphanet:218"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10023369 {source="Orphanet:218", source="Orphanet:218/e"}
xref: MEDGEN:5956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007644 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:218", source="MONDO:equivalentTo", source="DOID:2734", source="Orphanet:218/e"}
xref: NCIT:C84665 {source="MONDO:equivalentTo", source="DOID:2734"}
xref: NORD:1329 {source="MONDO:NORD"}
xref: OMIM:124200 {source="Orphanet:218", source="MONDO:equivalentTo", source="DOID:2734", source="Orphanet:218/e"}
xref: Orphanet:218 {source="MONDO:equivalentTo", source="OMIM:124200"}
xref: SCTID:157017000 {source="DOID:2734"}
xref: SCTID:205582000 {source="DOID:2734"}
xref: SCTID:240633005 {source="DOID:2734"}
xref: SCTID:268355000 {source="DOID:2734"}
xref: SCTID:48611009 {source="MONDO:equivalentTo", source="DOID:2734"}
xref: UMLS:C0022595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5956"}
xref: Wikipedia:Darier%27s_disease
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/812 {source="MONDO:mim2gene_medgen"} ! ATP2A2

[Term]
id: MONDO:0007418
name: Darwinian tubercle of pinna
comment: Editor notes: OMIM treats this as two diseases
subset: merged_class
synonym: "Darwinian Notch" RELATED [OMIM:124300]
synonym: "Darwinian point of Pinna" RELATED [OMIM:124300]
synonym: "Darwinian tubercle of pinna" EXACT [OMIM:124300, OMIM:124400]
xref: MEDGEN:343772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:124300 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:124400 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1852294 {source="MEDGEN:343772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007419
name: obsolete Darwinian tubercle of pinna
is_obsolete: true
replaced_by: MONDO:0007418

[Term]
id: MONDO:0007420
name: autosomal dominant deafness - onychodystrophy syndrome
def: "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." [Orphanet:79499]
subset: gard_rare {source="GARD:4732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79499"}
subset: ordo_malformation_syndrome {source="Orphanet:79499"}
subset: orphanet_rare {source="Orphanet:79499"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant deafness-onychodystrophy syndrome" EXACT []
synonym: "DDOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:124480]
synonym: "DDOD syndrome" EXACT [Orphanet:79499]
synonym: "Ddod syndrome" RELATED [OMIM:124480]
synonym: "deafness and onychodystrophy, dominant form" RELATED [GARD:0004732]
synonym: "deafness, congenital, and onychodystrophy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:124480]
synonym: "deafness, congenital, with onychodystrophy, autosomal dominant" RELATED [OMIM:124480]
synonym: "deafness-onychodystrophy syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "familial ectodermal dysplasia with sensori-neural deafness and other anomalies" RELATED [GARD:0004732]
synonym: "Robinson Miller Bensimon syndrome" RELATED [GARD:0004732]
synonym: "Robinson-Miller-Bensimon syndrome" RELATED [GARD:0004732]
xref: DOID:0080720 {source="MONDO:equivalentTo"}
xref: GARD:4732 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:79499/attributed", source="Orphanet:79499/ntbt", source="Orphanet:79499"}
xref: MEDGEN:382676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:124480 {source="Orphanet:79499/e", source="MONDO:equivalentTo", source="Orphanet:79499"}
xref: Orphanet:3231 {source="OMIM:124480"}
xref: Orphanet:79499 {source="OMIM:124480", source="MONDO:equivalentTo"}
xref: UMLS:C2675730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382676"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/854 {source="MONDO:mim2gene_medgen"} ! ATP6V1B2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome" xsd:anyURI {source="GARD:0004732"}

[Term]
id: MONDO:0007421
name: deafness-ear malformation-facial palsy syndrome
def: "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant." [Orphanet:3232]
subset: gard_rare {source="GARD:1684", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3232"}
subset: ordo_malformation_syndrome {source="Orphanet:3232"}
subset: orphanet_rare {source="Orphanet:3232"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, conductive stapedial, with EAR malformation and facial palsy" RELATED [OMIM:124490]
synonym: "Sellars-Beighton syndrome" EXACT [Orphanet:3232]
xref: GARD:1684 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3232", source="Orphanet:3232/attributed", source="Orphanet:3232/ntbt"}
xref: MEDGEN:338900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565123 {source="MONDO:equivalentTo"}
xref: OMIM:124490 {source="Orphanet:3232", source="MONDO:equivalentTo", source="Orphanet:3232/e"}
xref: Orphanet:3232 {source="MONDO:equivalentTo", source="OMIM:124490"}
xref: SCTID:716243005 {source="MONDO:equivalentTo"}
xref: UMLS:C1852292 {source="MONDO:equivalentTo", source="MEDGEN:338900", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:3232/inferred"} ! hereditary disease

[Term]
id: MONDO:0007422
name: keratoderma hereditarium mutilans
subset: gard_rare {source="GARD:3092", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494"}
subset: orphanet_rare {source="Orphanet:494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes" RELATED [OMIM:124500]
synonym: "keratoderma hereditarium mutilans" EXACT [OMIM:124500]
synonym: "KHM" RELATED ABBREVIATION [GARD:0003092]
synonym: "mutilating keratoderma" RELATED [OMIM:124500]
synonym: "mutilating keratoderma of Vohwinkel" EXACT [Orphanet:494]
synonym: "mutilating keratoderma plus deafness" EXACT [Orphanet:494]
synonym: "PPK mutilans and deafness" EXACT [Orphanet:494]
synonym: "Vohwinkel syndrome" EXACT [OMIM:124500, Orphanet:494]
synonym: "VOWNKL" RELATED ABBREVIATION [OMIM:124500]
xref: DOID:0111339 {source="MONDO:equivalentTo"}
xref: GARD:3092 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:494", source="Orphanet:494/attributed", source="Orphanet:494/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536457 {source="MONDO:equivalentTo"}
xref: OMIM:124500 {source="Orphanet:494/e", source="MONDO:equivalentTo", source="Orphanet:494"}
xref: Orphanet:494 {source="MONDO:equivalentTo", source="OMIM:124500"}
xref: SCTID:24559001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78579"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007423
name: deafness, mid-tone neural
synonym: "deafness, mid-tone neural" EXACT [OMIM:124700]
xref: MEDGEN:338897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565122 {source="MONDO:equivalentTo"}
xref: OMIM:124700 {source="MONDO:equivalentTo"}
xref: UMLS:C1852283 {source="MEDGEN:338897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007424
name: autosomal dominant nonsyndromic hearing loss 1
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant deafness 1" NARROW [DOID:0110541]
synonym: "autosomal dominant nonsyndromic deafness 1" NARROW [OMIM:124900]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 1" NARROW [DOID:0110541, MONDORULE:1]
synonym: "deafness, autosomal dominant 1" NARROW [MONDO:Lexical, OMIM:124900]
synonym: "deafness, autosomal dominant 1, with or without thrombocytopenia" NARROW [OMIM:124900, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 1" NARROW [MONDORULE:1, OMIM:124900]
synonym: "deafness, progressive Low tone" NARROW [OMIM:124900]
synonym: "DFNA1" NARROW ABBREVIATION [DOID:0110541, MONDO:Lexical, OMIM:124900]
synonym: "DIAPH1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary Low frequency hearing loss" RELATED [OMIM:124900]
synonym: "hereditary low frequency hearing loss 1" EXACT [DOID:0110541]
synonym: "Konigsmark syndrome" EXACT [DOID:0110541, OMIM:124900]
synonym: "LFHL1" EXACT ABBREVIATION [DOID:0110541]
xref: DOID:0110541 {source="MONDO:equivalentTo"}
xref: ICD10CM:H90.3 {source="DOID:0110541"}
xref: MEDGEN:343767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565121 {source="MONDO:equivalentTo"}
xref: OMIM:124900 {source="MONDO:equivalentTo", source="DOID:0110541"}
xref: UMLS:C1852282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343767"}
is_a: MONDO:0019587 {source="DC-OMIM:124900", source="DOID:0110541", source="MONDO:Redundant", source="OMIM:124900"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2876 ! DIAPH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2876 {source="MONDO:mim2gene_medgen"} ! DIAPH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0007425
name: deafness, sensorineural, with peripheral neuropathy and arterial disease
synonym: "deafness, sensorineural, with peripheral neuropathy and arterial disease" EXACT [OMIM:124950]
xref: MEDGEN:343766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565120 {source="MONDO:equivalentTo"}
xref: OMIM:124950 {source="MONDO:equivalentTo"}
xref: UMLS:C1852280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343766"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007426
name: deafness, unilateral
synonym: "deafness, unilateral" EXACT [OMIM:125000]
xref: MEDGEN:435850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567079 {source="MONDO:equivalentTo"}
xref: OMIM:125000 {source="MONDO:equivalentTo"}
xref: UMLS:C2607947 {source="MEDGEN:435850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007427
name: deafness with anhidrotic ectodermal dysplasia
synonym: "deafness with anhidrotic ectodermal dysplasia" EXACT [OMIM:125050]
xref: MEDGEN:342202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565119 {source="MONDO:equivalentTo"}
xref: OMIM:125050 {source="MONDO:equivalentTo"}
xref: UMLS:C1852279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342202"}
is_a: MONDO:0003847 {source="MESH:C565119/inferred"} ! hereditary disease

[Term]
id: MONDO:0007428
name: deafness-craniofacial syndrome
def: "Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." [Orphanet:3241]
subset: gard_rare {source="GARD:1686", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3241"}
subset: ordo_malformation_syndrome {source="Orphanet:3241"}
subset: orphanet_rare {source="Orphanet:3241"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness craniofacial syndrome" RELATED [GARD:0001686]
synonym: "deafness-craniofacial syndrome" EXACT [OMIM:125230]
xref: GARD:1686 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3241/attributed", source="Orphanet:3241/ntbt", source="Orphanet:3241"}
xref: MEDGEN:342201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565118 {source="MONDO:equivalentTo"}
xref: OMIM:125230 {source="Orphanet:3241/e", source="MONDO:equivalentTo", source="Orphanet:3241"}
xref: Orphanet:3241 {source="OMIM:125230", source="MONDO:equivalentTo"}
xref: SCTID:716245003 {source="MONDO:equivalentTo"}
xref: UMLS:C1852278 {source="MEDGEN:342201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3241"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3241", source="Orphanet:3241/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome" xsd:anyURI {source="GARD:0001686"}

[Term]
id: MONDO:0007429
name: optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
subset: gard_rare {source="GARD:15057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dominant optic atrophy plus syndrome" RELATED [OMIM:125250]
synonym: "optic atrophy 1 and deafness" RELATED [GARD:0009897]
synonym: "optic atrophy plus syndrome" EXACT [OMIM:125250, OMIM:genemap2]
synonym: "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT [OMIM:125250]
xref: GARD:15057 {source="MONDO:GARD"}
xref: MEDGEN:478179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:125250 {source="MONDO:equivalentTo"}
xref: Orphanet:1215 {source="OMIM:125250"}
xref: Orphanet:3212 {source="OMIM:125250", source="MONDO:relatedTo"}
xref: UMLS:C3276549 {source="MEDGEN:478179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014720 {source="Orphanet:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:125250"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007430
name: dens evaginatus
synonym: "dens evaginatus" EXACT [OMIM:125280]
xref: MEDGEN:78585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:125280 {source="MONDO:equivalentTo"}
xref: SCTID:63691004 {source="MONDO:equivalentTo"}
xref: UMLS:C0266034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78585"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007431
name: dens in dente and palatal invaginations
synonym: "dens in dente and palatal INVAGINATIONS" RELATED [OMIM:125300]
xref: MEDGEN:377628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538211 {source="MONDO:equivalentTo"}
xref: OMIM:125300 {source="MONDO:equivalentTo"}
xref: UMLS:C1852250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377628"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007432
name: cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "CADASIL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125310]
synonym: "Casil" RELATED [OMIM:125310]
synonym: "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy" EXACT [OMIMPS:125310]
synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT CLINGEN_LABEL []
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:125310]
synonym: "dementia, hereditary multi-infarct type" RELATED [OMIM:125310]
xref: DOID:13945 {source="MONDO:equivalentTo"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:199687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200545 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:125310 {source="MONDO:equivalentTo"}
xref: Orphanet:136 {source="DOID:13945", source="OMIM:125310"}
xref: UMLS:C0751587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199687"}
is_a: MONDO:0002254 {source="NCIT:C84606"} ! syndromic disease
is_a: MONDO:0005385 {source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0015547 {source="Orphanet:136", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary dementia
relationship: excluded_subClassOf MONDO:0019046 {source="DOID:13945", source="https://orcid.org/0000-0001-5208-3432"} ! leukodystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:125310"} ! inherited

[Term]
id: MONDO:0007433
name: dementia/parkinsonism with non-Alzheimer amyloid plaques
synonym: "dementia/parkinsonism with non-Alzheimer amyloid plaques" EXACT [OMIM:125320]
xref: MEDGEN:338883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565115 {source="MONDO:equivalentTo"}
xref: OMIM:125320 {source="MONDO:equivalentTo"}
xref: UMLS:C1852223 {source="MEDGEN:338883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007434
name: primary failure of tooth eruption
subset: gard_rare {source="GARD:17692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412206"}
subset: orphanet_rare {source="Orphanet:412206"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dental noneruption" RELATED [OMIM:125350]
synonym: "failure of tooth eruption, primary" RELATED [MONDO:Lexical, OMIM:125350]
synonym: "PFE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125350, Orphanet:412206]
synonym: "posterior Openbite malocclusion, familial" RELATED [OMIM:125350]
synonym: "primary failure of eruption, nonsyndromic" RELATED [OMIM:125350]
synonym: "primary retention of teeth" EXACT [OMIM:125350, Orphanet:412206]
synonym: "unerupted second primary molar" RELATED [OMIM:125350]
xref: DOID:0111341 {source="MONDO:equivalentTo"}
xref: GARD:17692 {source="MONDO:GARD"}
xref: ICD10CM:K00.8 {source="Orphanet:412206/attributed", source="Orphanet:412206/ntbt", source="Orphanet:412206"}
xref: MEDGEN:338882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565114 {source="MONDO:equivalentTo"}
xref: OMIM:125350 {source="Orphanet:412206", source="MONDO:equivalentTo", source="Orphanet:412206/e"}
xref: Orphanet:412206 {source="OMIM:125350", source="MONDO:equivalentTo"}
xref: UMLS:C1852222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338882"}
is_a: MONDO:0003847 {source="Orphanet:412206/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9608 {source="MONDO:mim2gene_medgen"} ! PTH1R

[Term]
id: MONDO:0007435
name: dentatorubral-pallidoluysian atrophy
def: "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." [Orphanet:101]
subset: gard_rare {source="GARD:5643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101"}
subset: orphanet_rare {source="Orphanet:101"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia, chorea, seizures, and dementia" RELATED [OMIM:125370]
synonym: "dentatorubral pallidoluysian atrophy" RELATED [Orphanet:101]
synonym: "dentatorubral-pallidoluysian atrophy" EXACT [MONDO:Lexical, OMIM:125370]
synonym: "Dentatorubropallidoluysian atrophy" EXACT [Orphanet:101]
synonym: "DRPLA" EXACT ABBREVIATION [DOID:0060162, MONDO:Lexical, OMIM:125370, Orphanet:101]
synonym: "haw River syndrome" EXACT [DOID:0060162, OMIM:125370]
synonym: "myoclonic epilepsy with choreoathetosis" RELATED [OMIM:125370]
synonym: "Naito Oyanagi disease" RELATED [GARD:0005643]
synonym: "Naito-Oyanagi disease" EXACT [DOID:0060162, OMIM:125370, Orphanet:101]
synonym: "NOD" RELATED ABBREVIATION [GARD:0005643]
xref: DOID:0060162 {source="MONDO:equivalentTo"}
xref: GARD:5643 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:101/attributed", source="Orphanet:101/ntbt", source="Orphanet:101"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:155630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020191 {source="MONDO:relatedTo", source="DOID:0060162"}
xref: NANDO:1200043 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122653 {source="MONDO:equivalentTo", source="DOID:0060162"}
xref: NCIT:C7636 {source="MONDO:relatedTo", source="DOID:0060162"}
xref: OMIM:125370 {source="Orphanet:101/e", source="MONDO:equivalentTo", source="DOID:0060162", source="Orphanet:101"}
xref: Orphanet:101 {source="MONDO:equivalentTo", source="OMIM:125370"}
xref: SCTID:192844008 {source="DOID:0060162"}
xref: SCTID:267581004 {source="MONDO:relatedTo", source="DOID:0060162"}
xref: SCTID:68116008 {source="MONDO:equivalentTo", source="DOID:0060162"}
xref: SCTID:702422004 {source="DOID:0060162"}
xref: SCTID:89480000 {source="DOID:0060162"}
xref: UMLS:C0751781 {source="MEDGEN:155630", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="DOID:0060162/inferred", source="MONDO:Redundant", source="NCIT:C122653", source="Orphanet:101/inferred"} ! neurodegenerative disease
is_a: MONDO:0015548 {source="Orphanet:101"} ! Huntington disease-like syndrome
is_a: MONDO:0019794 {source="Orphanet:101"} ! autosomal dominant cerebellar ataxia type IV
relationship: disease_has_feature HP:0002503 ! Spinocerebellar tract degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3033 {source="MONDO:mim2gene_medgen"} ! ATN1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy" xsd:anyURI {source="GARD:0005643"}

[Term]
id: MONDO:0007436
name: dentin dysplasia type I
def: "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth." [Orphanet:99789]
subset: gard_rare {source="GARD:1807", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1041", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99789"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DD-I" EXACT [Orphanet:99789]
synonym: "dentin dysplasia type I" EXACT CLINGEN_LABEL []
synonym: "dentin dysplasia, Shields type 1" RELATED [OMIM:125400]
synonym: "dentin dysplasia, type 1" RELATED [GARD:0001807]
synonym: "dentin dysplasia, type I" RELATED [MONDO:Lexical, OMIM:125400]
synonym: "dentin dysplasia, type I, with extreme microdontia and misshapen teeth" RELATED [OMIM:125400]
synonym: "dentin dysplasia, type i, with microdontia and misshapen teeth" EXACT [OMIM:125400, OMIM:genemap2]
synonym: "DTDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125400, Orphanet:99789]
synonym: "radicular dentin dysplasia" EXACT [OMIM:125400, Orphanet:99789]
synonym: "rootless teeth" RELATED [OMIM:125400]
xref: GARD:1807 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:99789/attributed", source="Orphanet:99789/ntbt", source="Orphanet:99789"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531665 {source="MONDO:equivalentTo"}
xref: MESH:C538215 {source="Orphanet:99789", source="MONDO:equivalentTo", source="Orphanet:99789/e"}
xref: NORD:1041 {source="MONDO:NORD"}
xref: OMIM:125400 {source="MONDO:equivalentTo"}
xref: Orphanet:314721 {source="OMIM:125400"}
xref: Orphanet:99789 {source="MONDO:equivalentTo", source="OMIM:125400"}
xref: SCTID:109493006 {source="MONDO:equivalentTo"}
xref: UMLS:C0399379 {source="MEDGEN:97996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:99789/inferred"} ! hereditary disease
is_a: MONDO:0015613 {source="DC-OMIM:125400", source="MESH:C538215", source="Orphanet:99789"} ! dentin dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20323 {source="MONDO:mim2gene_medgen"} ! SMOC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-1" xsd:anyURI {source="GARD:0001807"}

[Term]
id: MONDO:0007437
name: dentin dysplasia type II
def: "Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition." [Orphanet:99791]
subset: gard_rare {source="GARD:1806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99791"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anomalous dysplasia of dentin" RELATED [OMIM:125420]
synonym: "coronal dentin dysplasia" RELATED [OMIM:125420]
synonym: "DD-II" EXACT [Orphanet:99791]
synonym: "dentin dyspalsia, Shields type 2" RELATED [GARD:0001806]
synonym: "dentin dysplasia, coronal" RELATED [GARD:0001806]
synonym: "dentin dysplasia, Shields type 2" RELATED [OMIM:125420]
synonym: "dentin dysplasia, type 2" RELATED [OMIM:125420]
synonym: "dentin dysplasia, type II" RELATED [OMIM:125420]
synonym: "DTDP2" EXACT ABBREVIATION [Orphanet:99791]
synonym: "Dtdp2" RELATED [OMIM:125420]
synonym: "pulp stones" RELATED [OMIM:125420]
synonym: "pulpal dysplasia" RELATED [OMIM:125420]
xref: GARD:1806 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:99791", source="Orphanet:99791/attributed", source="Orphanet:99791/ntbt"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:315928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:125420 {source="MONDO:equivalentTo"}
xref: Orphanet:99791 {source="OMIM:125420", source="MONDO:equivalentTo"}
xref: SCTID:109494000 {source="MONDO:equivalentTo"}
xref: UMLS:C1527284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:315928"}
is_a: MONDO:0003847 {source="Orphanet:99791/inferred"} ! hereditary disease
is_a: MONDO:0015613 {source="DC-OMIM:125420", source="OMIM:125420", source="Orphanet:99791"} ! dentin dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3054 {source="MONDO:mim2gene_medgen"} ! DSPP

[Term]
id: MONDO:0007438
name: dentin dysplasia-sclerotic bones syndrome
def: "A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977." [https://orcid.org/0000-0001-5208-3432, Orphanet:99792]
subset: gard_rare {source="GARD:1808", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99792"}
subset: orphanet_rare {source="Orphanet:99792"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dentin dysplasia sclerotic bones" RELATED [GARD:0001808]
synonym: "dentin dysplasia with sclerotic bones" RELATED [OMIM:125440]
synonym: "sclerotic bones with dentin dysplasia" RELATED [GARD:0001808]
xref: GARD:1808 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:99792/attributed", source="Orphanet:99792/ntbt", source="Orphanet:99792"}
xref: MEDGEN:377618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538213 {source="Orphanet:99792/e", source="MONDO:equivalentTo", source="Orphanet:99792"}
xref: OMIM:125440 {source="Orphanet:99792/e", source="MONDO:equivalentTo", source="Orphanet:99792"}
xref: Orphanet:99792 {source="OMIM:125440", source="MONDO:equivalentTo"}
xref: UMLS:C1852201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377618"}
is_a: MONDO:0003847 {source="Orphanet:99792/inferred"} ! hereditary disease

[Term]
id: MONDO:0007439
name: deoxyribose-5-phosphate aldolase deficiency
synonym: "deoxyribose-5-phosphate aldolase deficiency" EXACT [OMIM:125460]
xref: MEDGEN:377617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565112 {source="MONDO:equivalentTo"}
xref: OMIM:125460 {source="MONDO:equivalentTo"}
xref: UMLS:C1852200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377617"}
is_a: MONDO:0003847 {source="MESH:C565112/inferred"} ! hereditary disease

[Term]
id: MONDO:0007440
name: major affective disorder 1
synonym: "bipolar affective disorder" RELATED [OMIM:125480]
synonym: "MAFD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125480]
synonym: "MAJOR affective disorder 1" RELATED [OMIM:125480]
synonym: "major affective disorder 1" EXACT [OMIM:125480]
synonym: "manic-depressive psychosis" RELATED [OMIM:125480]
synonym: "manic-depressive psychosis, autosomal" RELATED [OMIM:125480]
xref: DOID:0080220 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:377615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565111 {source="MONDO:equivalentTo"}
xref: OMIM:125480 {source="DOID:0080220", source="MONDO:equivalentTo"}
xref: UMLS:C1852197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377615"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:125480", source="DOID:0080220/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder
relationship: excluded_subClassOf MONDO:0001866 {source="DOID:0080220", source="https://orcid.org/0000-0001-5208-3432"} ! bipolar I disorder

[Term]
id: MONDO:0007441
name: dentinogenesis imperfecta type 2
def: "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth." [Orphanet:166260]
subset: gard_rare {source="GARD:12796", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166260"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Capdepont teeth" EXACT [OMIM:125490, Orphanet:166260]
synonym: "dentinogenesis imperfecta 1" RELATED [MONDO:Lexical, OMIM:125490]
synonym: "dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:125490]
synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" RELATED [OMIM:125490]
synonym: "dentinogenesis imperfecta, Shields type 2" EXACT [OMIM:125490, Orphanet:166260]
synonym: "dentinogenesis imperfecta, Shields type II" EXACT [OMIM:125490, OMIM:genemap2]
synonym: "DGI-2" EXACT [Orphanet:166260]
synonym: "DGI-II" RELATED [OMIM:125490]
synonym: "DGI1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125490]
synonym: "DI-2" EXACT [Orphanet:166260]
synonym: "opalescent dentin" RELATED [OMIM:125490]
synonym: "opalescent teeth without osteogenesis imperfecta" RELATED [OMIM:125490]
xref: GARD:12796 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:166260/attributed", source="Orphanet:166260/ntbt", source="Orphanet:166260"}
xref: MEDGEN:424922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:125490 {source="Orphanet:166260/e", source="MONDO:equivalentTo", source="Orphanet:166260"}
xref: Orphanet:166260 {source="MONDO:equivalentTo", source="OMIM:125490"}
xref: UMLS:C2973527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424922"}
is_a: MONDO:0003847 {source="Orphanet:166260/inferred"} ! hereditary disease
is_a: MONDO:0018849 {source="DC-OMIM:125490", source="Orphanet:166260"} ! dentinogenesis imperfecta
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3054 {source="MONDO:mim2gene_medgen"} ! DSPP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007442
name: dentinogenesis imperfecta type 3
def: "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." [Orphanet:166265]
subset: gard_rare {source="GARD:10144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1043"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166265"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brandywine type dentinogenesis imperfecta" EXACT [OMIM:125500]
synonym: "dentinogenesis imperfecta Shields type 3" EXACT [GARD:0010144]
synonym: "Dentinogenesis Imperfecta Type III" EXACT [NORD:1043]
synonym: "dentinogenesis imperfecta type III" EXACT [GARD:0010144]
synonym: "dentinogenesis imperfecta, Shields type 3" EXACT [Orphanet:166265]
synonym: "dentinogenesis imperfecta, Shields type III" EXACT [OMIM:125500]
synonym: "DGI-III" EXACT [OMIM:125500]
xref: GARD:10144 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:166265/attributed", source="Orphanet:166265/ntbt", source="Orphanet:166265"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538216 {source="MONDO:equivalentTo"}
xref: NORD:1043 {source="MONDO:NORD"}
xref: OMIM:125500 {source="Orphanet:166265", source="MONDO:equivalentTo", source="Orphanet:166265/e"}
xref: Orphanet:166265 {source="MONDO:equivalentTo", source="OMIM:125500"}
xref: SCTID:234970006 {source="MONDO:equivalentTo"}
xref: UMLS:C0399378 {source="MEDGEN:97995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:166265/inferred"} ! hereditary disease
is_a: MONDO:0018849 {source="DC-OMIM:125500", source="MESH:C538216", source="Orphanet:166265"} ! dentinogenesis imperfecta
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3054 {source="MONDO:mim2gene_medgen"} ! DSPP
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3" xsd:anyURI {source="GARD:0010144"}

[Term]
id: MONDO:0007443
name: congenital unilateral hypoplasia of depressor anguli oris
def: "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." [Orphanet:1166]
comment: Editor note: TODO check relationship to 22q11.2 deletion syndrome
subset: gard_rare {source="GARD:16557", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1166"}
subset: ordo_morphological_anomaly {source="Orphanet:1166"}
subset: orphanet_rare {source="Orphanet:1166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asymmetric crying facies" RELATED [OMIM:125520]
synonym: "Cayler cardiofacial syndrome" RELATED [OMIM:125520]
synonym: "depressor anguli oris muscle, hypoplasia of" RELATED [OMIM:125520]
synonym: "facial paresis, partial, unilateral" RELATED [OMIM:125520]
synonym: "isolated asymmetric crying facies" EXACT [Orphanet:1166]
xref: GARD:16557 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1166/attributed", source="Orphanet:1166/ntbt", source="Orphanet:1166"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535349 {source="Orphanet:1166", source="Orphanet:1166/e"}
xref: OMIM:125520 {source="Orphanet:1166", source="MONDO:equivalentTo", source="Orphanet:1166/e"}
xref: Orphanet:1166 {source="MONDO:equivalentTo", source="OMIM:125520"}
xref: SCTID:51409009 {source="MONDO:equivalentTo"}
xref: UMLS:C0431406 {source="MEDGEN:140911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018923 ! 22q11.2 deletion syndrome
is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007444
name: dermal Ridges, patternless
synonym: "dermal Ridges, patternless" EXACT [OMIM:125540]
xref: MEDGEN:343736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565109 {source="MONDO:equivalentTo"}
xref: OMIM:125540 {source="MONDO:equivalentTo"}
xref: UMLS:C1852160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343736"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007445
name: dermatopathia pigmentosa reticularis
subset: gard_rare {source="GARD:8550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86920"}
subset: orphanet_rare {source="Orphanet:86920"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dermatopathia pigmentosa reticularis" EXACT [MONDO:Lexical, OMIM:125595]
synonym: "DPR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125595]
xref: DOID:0111342 {source="MONDO:equivalentTo"}
xref: GARD:8550 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:86920/attributed", source="Orphanet:86920/ntbt", source="Orphanet:86920"}
xref: MEDGEN:98037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535374 {source="Orphanet:86920", source="MONDO:equivalentTo", source="Orphanet:86920/e"}
xref: OMIM:125595 {source="Orphanet:86920", source="MONDO:equivalentTo", source="Orphanet:86920/e"}
xref: Orphanet:86920 {source="OMIM:125595", source="MONDO:equivalentTo"}
xref: SCTID:239088003 {source="MONDO:equivalentTo"}
xref: UMLS:C0406778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98037"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="Orphanet:86920"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019289 {source="Orphanet:86920"} ! hyperpigmentation of the skin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6416 {source="MONDO:mim2gene_medgen"} ! KRT14
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis" xsd:anyURI {source="GARD:0008550"}

[Term]
id: MONDO:0007446
name: dermatosis papulosa nigra
def: "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "dermatosis papulosa nigra" EXACT [DOID:4400, OMIM:125600]
synonym: "dermatosis papulosa nigra (morphologic abnormality)" EXACT [DOID:4400]
xref: DOID:4400 {source="MONDO:equivalentTo", source="EFO:1000686"}
xref: EFO:1000686 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L82 {source="DOID:4400", source="MONDO:directSiblingOf"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562379 {source="DOID:4400", source="MONDO:equivalentTo"}
xref: NCIT:C2984 {source="DOID:4400", source="MONDO:equivalentTo"}
xref: OMIM:125600 {source="DOID:4400", source="MONDO:equivalentTo"}
xref: SCTID:103672009 {source="DOID:4400"}
xref: SCTID:254669003 {source="DOID:4400", source="MONDO:equivalentTo"}
xref: SCTID:25499005 {source="DOID:4400"}
xref: UMLS:C0011645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4238"}
xref: Wikipedia:Dermatosis_papulosa_nigra {source="EFO:1000686"}
is_a: MONDO:0002406 {source="DOID:4400", source="NCIT:C2984"} ! dermatitis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007447
name: autosomal dominant vibratory urticaria
def: "An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." [PMID:26841242]
subset: gard_rare {source="GARD:9806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:493342"}
subset: orphanet_rare {source="Orphanet:493342"}
subset: rare
synonym: "angioedema, vibratory" BROAD [OMIM:193050]
synonym: "DDU" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125630]
synonym: "dermodistortive urticaria" EXACT [MONDO:Lexical, OMIM:125630]
synonym: "VBU" EXACT ABBREVIATION [OMIM:125630]
synonym: "vibratory angioedema" BROAD [MONDO:0008657, MONDO:0024254, OMIM:193050]
synonym: "vibratory urticaria, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
xref: GARD:9806 {source="MONDO:GARD"}
xref: ICD9:995.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C536347 {source="MONDO:equivalentTo"}
xref: OMIM:125630 {source="Orphanet:493342", source="MONDO:equivalentTo", source="Orphanet:493348"}
xref: OMIM:193050 {source="MONDO:equivalentObsolete"}
xref: Orphanet:493342 {source="MONDO:equivalentTo"}
xref: Orphanet:493348 {source="MONDO:relatedTo"}
xref: SCTID:238694002 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0005492 {source="Orphanet:493342", source="Orphanet:493348"} ! urticaria
is_a: MONDO:0006618 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! vibratory urticaria
intersection_of: MONDO:0006618 ! vibratory urticaria
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019298"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3337 {source="MONDO:mim2gene_medgen"} ! ADGRE2

[Term]
id: MONDO:0007448
name: familial dermatographia
def: "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may involve use of antihistamines if symptoms do not go away on their own." [GARD:0009480]
subset: otar {source="MONDO:OTAR"}
synonym: "DDU" RELATED ABBREVIATION [MESH:C536612]
synonym: "dermatographia" RELATED [GARD:0009480]
synonym: "dermatographic urticaria" EXACT [DOID:743, ICD9CM:708.3]
synonym: "Dermatographism, familial" RELATED [MESH:C536612, OMIM:125635]
synonym: "dermo-distortive urticaria" RELATED [GARD:0009480, MESH:C536612]
synonym: "Dermodistortive urticaria" RELATED [MESH:C536612]
synonym: "dermographism" EXACT [DOID:743, GARD:0009480]
synonym: "dermographism, familial" RELATED [MESH:C536612, OMIM:125635]
synonym: "familial dermatographism" RELATED [GARD:0009480, MESH:C536612]
synonym: "familial dermographism" RELATED [GARD:0009480]
synonym: "VBU" RELATED ABBREVIATION [MESH:C536612]
synonym: "vibratory angioedema" RELATED [MESH:C536612]
synonym: "vibratory urticaria" RELATED [MESH:C536612]
xref: DOID:743 {source="EFO:1000685", source="MONDO:equivalentTo"}
xref: EFO:1000685 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L50.3 {source="DOID:743", source="MONDO:equivalentTo"}
xref: ICD9:708.3 {source="DOID:743", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:342170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536612 {source="MONDO:equivalentTo"}
xref: NCIT:C111885 {source="DOID:743", source="MONDO:otherHierarchy"}
xref: OMIM:125635 {source="DOID:743", source="GARD:0009480", source="MONDO:equivalentTo"}
xref: SCTID:123093003 {source="DOID:743"}
xref: SCTID:156430003 {source="DOID:743"}
xref: SCTID:201263000 {source="DOID:743"}
xref: SCTID:201265007 {source="DOID:743"}
xref: SCTID:238685008 {source="DOID:743"}
xref: SCTID:247473009 {source="DOID:743"}
xref: SCTID:270885004 {source="DOID:743"}
xref: SCTID:402410006 {source="DOID:743"}
xref: SCTID:402601007 {source="DOID:743"}
xref: SCTID:7632005 {source="DOID:743", source="MONDO:equivalentTo"}
xref: UMLS:C1852145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342170"}
is_a: MONDO:0005492 {source="DOID:743/inferred", source="EFO:1000685/inferred", source="ICD10CM:L50.3", source="MESH:C536612", source="MONDO:Redundant"} ! urticaria
is_a: MONDO:0006599 {source="DOID:743", source="EFO:1000685"} ! physical urticaria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism" xsd:anyURI {source="GARD:0009480"}

[Term]
id: MONDO:0007449
name: dermo-odonto dysplasia
def: "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." [Orphanet:1660]
subset: gard_rare {source="GARD:1816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1660"}
subset: ordo_malformation_syndrome {source="Orphanet:1660"}
subset: orphanet_rare {source="Orphanet:1660"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dermo odontodysplasia" RELATED []
synonym: "dermo-odonto dysplasia" EXACT []
synonym: "dermo-odonto-dysplasia" RELATED [GARD:0001816]
synonym: "dermoodonto dysplasia" RELATED []
synonym: "DERMOODONTODYSPLASIA" RELATED ABBREVIATION [OMIM:125640]
synonym: "ectodermal dysplasia, hair-nail-Tooth type" RELATED [OMIM:125640]
xref: GARD:1816 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1660", source="Orphanet:1660/attributed", source="Orphanet:1660/ntbt"}
xref: MEDGEN:377602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565103 {source="MONDO:equivalentTo"}
xref: OMIM:125640 {source="Orphanet:1660", source="MONDO:equivalentTo", source="Orphanet:1660/e"}
xref: Orphanet:1660 {source="OMIM:125640", source="MONDO:equivalentTo"}
xref: SCTID:721091003 {source="MONDO:equivalentTo"}
xref: UMLS:C1852144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377602"}
is_a: MONDO:0019287 {source="Orphanet:1660"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0007450
name: neurohypophyseal diabetes insipidus
def: "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." [Orphanet:30925]
subset: gard_rare {source="GARD:16629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:30925"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADH deficiency" EXACT [NCIT:C84933]
synonym: "antidiuretic hormone deficiency" EXACT [NCIT:C84933]
synonym: "Arginine vasopressin deficiency" EXACT [NCIT:C84933]
synonym: "AVP deficiency" EXACT [NCIT:C84933]
synonym: "central diabetes insipidus" RELATED EXCLUDE [DOID:12388]
synonym: "diabetes insipidus of pituitary gland" EXACT [MONDO:design_pattern]
synonym: "diabetes insipidus, cranial type" RELATED [OMIM:125700]
synonym: "diabetes insipidus, neurohypophyseal" RELATED [OMIM:125700]
synonym: "diabetes insipidus, primary central" RELATED [OMIM:125700]
synonym: "hereditary CDI" EXACT [Orphanet:30925]
synonym: "hereditary central diabetes insipidus" RELATED [Orphanet:30925]
synonym: "hereditary neurogenic diabetes insipidus" EXACT [Orphanet:30925]
synonym: "neurogenic diabetes insipidus" RELATED [NCIT:C84933]
synonym: "pituitary diabetes insipidus" EXACT [DOID:12388]
synonym: "pituitary gland diabetes insipidus" EXACT [MONDO:patterns/location]
synonym: "vasopressin defective diabetes insipidus" EXACT [DOID:12388]
synonym: "vasopressin deficiency" EXACT [DOID:12388]
xref: DOID:12388 {source="MONDO:equivalentTo"}
xref: GARD:16629 {source="MONDO:GARD"}
xref: ICD10CM:E23.2 {source="Orphanet:30925/e", source="Orphanet:30925/specific", source="Orphanet:30925"}
xref: MEDGEN:574999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020790 {source="DOID:12388"}
xref: NANDO:2201050 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84933 {source="MONDO:equivalentTo", source="DOID:12388"}
xref: OMIM:125700 {source="Orphanet:30925/e", source="MONDO:equivalentTo", source="Orphanet:30925", source="DOID:12388"}
xref: Orphanet:178029 {source="OMIM:125700"}
xref: Orphanet:30925 {source="MONDO:equivalentTo", source="OMIM:125700"}
xref: SCTID:154699008 {source="DOID:12388"}
xref: SCTID:15771004 {source="DOID:12388"}
xref: SCTID:190484000 {source="DOID:12388"}
xref: SCTID:267393007 {source="DOID:12388"}
xref: SCTID:45369008 {source="MONDO:equivalentTo", source="DOID:12388"}
xref: SCTID:64410003 {source="DOID:12388"}
xref: UMLS:C0342394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574999"}
is_a: MONDO:0003381 {source="DOID:12388", source="MONDO:Redundant"} ! pituitary gland disorder
is_a: MONDO:0004782 {source="DC-OMIM:125700", source="DOID:12388", source="MONDO:Redundant", source="NCIT:C84933"} ! diabetes insipidus
is_a: MONDO:0015790 {source="Orphanet:30925"} ! central diabetes insipidus
intersection_of: MONDO:0004782 ! diabetes insipidus
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
relationship: has_characteristic HP:0000006 {source="OMIM:125700"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/894 {source="MONDO:mim2gene_medgen"} ! AVP

[Term]
id: MONDO:0007451
name: diabetes insipidus, nephrogenic, autosomal
subset: gard_rare {source="GARD:15058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes insipidus, nephrogenic, 2" EXACT [OMIM:125800, OMIM:genemap2]
synonym: "diabetes insipidus, nephrogenic, autosomal" EXACT [OMIM:125800]
synonym: "diabetes insipidus, nephrogenic, type 2" RELATED [OMIM:125800]
xref: DOID:0081061 {source="MONDO:equivalentTo"}
xref: GARD:15058 {source="MONDO:GARD"}
xref: MEDGEN:289643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:125800 {source="MONDO:equivalentTo"}
xref: Orphanet:223 {source="OMIM:125800"}
xref: UMLS:C1563706 {source="MEDGEN:289643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004782 {source="DC-OMIM:125800", source="MONDO:Redundant", source="MONDO:indirect"} ! diabetes insipidus
is_a: MONDO:0016383 {source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/634 {source="MONDO:mim2gene_medgen"} ! AQP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007452
name: maturity-onset diabetes of the young type 1
def: "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha." [NCIT:C129744]
subset: gard_rare {source="GARD:3418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diabetes mellitus MODY type 1" RELATED [GARD:0003418]
synonym: "diabetes mellitus type 2" EXACT [DOID:0111099]
synonym: "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes" EXACT [NCIT:C129744]
synonym: "HNF4A-associated monogenic diabetes" EXACT [NCIT:C129744]
synonym: "maturity onset diabetes of the Young, type 1" EXACT [NCIT:C129744]
synonym: "maturity-onset diabetes of the young, type 1" RELATED [GARD:0003418, MONDO:Lexical, OMIM:125850]
synonym: "mild juvenile diabetes mellitus" EXACT [DOID:0111099, OMIM:125850]
synonym: "MODY HNF4A related" RELATED [GARD:0003418]
synonym: "MODY type 1" EXACT [DOID:0111099]
synonym: "MODY, type 1" RELATED [OMIM:125850]
synonym: "MODY, type I" EXACT [OMIM:125850, OMIM:genemap2]
synonym: "MODY1" EXACT ABBREVIATION [DOID:0111099, MONDO:Lexical, OMIM:125850]
synonym: "type 1 maturity-onset diabetes of the young" RELATED [GARD:0003418]
xref: DOID:0111099 {source="MONDO:equivalentTo"}
xref: GARD:3418 {source="MONDO:GARD"}
xref: MEDGEN:377589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565101 {source="MONDO:equivalentTo"}
xref: NANDO:2200461 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201069 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129744 {source="MONDO:equivalentTo"}
xref: OMIM:125850 {source="MONDO:equivalentTo", source="DOID:0111099"}
xref: Orphanet:552 {source="OMIM:125850"}
xref: SCTID:609562003 {source="MONDO:equivalentTo"}
xref: UMLS:C1852093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377589"}
is_a: MONDO:0018911 {source="DC-OMIM:125850", source="DOID:0111099"} ! maturity-onset diabetes of the young
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5024 {source="MONDO:mim2gene_medgen"} ! HNF4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1" xsd:anyURI {source="GARD:0003418"}

[Term]
id: MONDO:0007453
name: maturity-onset diabetes of the young type 2
def: "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." [NCIT:C129741]
subset: gard_rare {source="GARD:10657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diabetes mellitus MODY type 2" RELATED [GARD:0010657]
synonym: "GCK maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "GCK-associated diabetes mellitus" EXACT [NCIT:C129741]
synonym: "glucokinase-associated diabetes mellitus" EXACT [NCIT:C129741]
synonym: "maturity onset diabetes of the Young, type 2" EXACT [NCIT:C129741]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in GCK" EXACT []
synonym: "maturity-onset diabetes of the young, type 2" RELATED [GARD:0010657, MONDO:Lexical, OMIM:125851]
synonym: "MODY 2 monogenic diabetes type 2" EXACT [NCIT:C129741]
synonym: "MODY glucokinase-related" EXACT [DOID:0111100]
synonym: "MODY type 2" EXACT [DOID:0111100]
synonym: "MODY, glucokinase-related" RELATED [OMIM:125851]
synonym: "MODY, type 2" RELATED [OMIM:125851]
synonym: "MODY, type II" EXACT [OMIM:125851, OMIM:genemap2]
synonym: "MODY2" EXACT ABBREVIATION [DOID:0111100, MONDO:Lexical, OMIM:125851]
synonym: "type 2 maturity-onset diabetes of the young" RELATED [GARD:0010657]
xref: DOID:0111100 {source="MONDO:equivalentTo"}
xref: GARD:10657 {source="MONDO:GARD"}
xref: MEDGEN:87434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201070 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129741 {source="MONDO:equivalentTo"}
xref: OMIM:125851 {source="MONDO:equivalentTo", source="DOID:0111100"}
xref: Orphanet:552 {source="OMIM:125851"}
xref: SCTID:237604008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87434"}
is_a: MONDO:0018911 {source="DC-OMIM:125851", source="DOID:0111100", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4195 ! GCK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4195 {source="MONDO:mim2gene_medgen"} ! GCK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2" xsd:anyURI {source="GARD:0010657"}

[Term]
id: MONDO:0007454
name: type 1 diabetes mellitus 2
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "diabetes mellitus, insulin-dependent, 2" RELATED [OMIM:125852]
synonym: "diabetes mellitus, insulin-dependent, type 2" EXACT [MONDORULE:1, OMIM:125852]
synonym: "IDDM2" EXACT ABBREVIATION [DOID:0110741]
synonym: "INS type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "insulin-dependent diabetes mellitus 2" EXACT [DOID:0110741, OMIM:125852]
synonym: "type 1 diabetes mellitus caused by mutation in INS" EXACT [MONDO:design_pattern]
xref: DOID:0110741 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110741"}
xref: MEDGEN:377588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565100 {source="MONDO:equivalentTo"}
xref: OMIM:125852 {source="MONDO:equivalentTo", source="DOID:0110741"}
xref: UMLS:C1852092 {source="MEDGEN:377588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:125852"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 {source="OMIM:125852"} ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 {source="OMIM:125852"} ! INS
intersection_of: predisposes_towards MONDO:0005147 {source="OMIM:125852"} ! type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:125852", source="DOID:0110741", source="MESH:C565100", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 {source="MONDO:mim2gene_medgen"} ! INS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0007455
name: obsolete diabetes mellitus, noninsulin-dependent
comment: Duplicate terms.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2377" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005148

[Term]
id: MONDO:0007456
name: diarrhea, glucose-stimulated secretory, with common variable immunodeficiency
synonym: "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency" EXACT [OMIM:125890]
xref: MEDGEN:377585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565099 {source="MONDO:equivalentTo"}
xref: OMIM:125890 {source="MONDO:equivalentTo"}
xref: UMLS:C1852087 {source="MEDGEN:377585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565099/inferred"} ! hereditary disease

[Term]
id: MONDO:0007457
name: diastema, dental medial
synonym: "diastema, dental medial" EXACT [OMIM:125900]
xref: MEDGEN:342157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565098 {source="MONDO:equivalentTo"}
xref: OMIM:125900 {source="MONDO:equivalentTo"}
xref: UMLS:C1852086 {source="MEDGEN:342157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007458
name: digitotalar dysmorphism; ulnar drift, hereditary
subset: gard_rare {source="GARD:15059", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "digitotalar dysmorphism" RELATED [OMIM:126050]
synonym: "ulnar drift, hereditary" RELATED [OMIM:126050]
xref: GARD:15059 {source="MONDO:GARD"}
xref: MEDGEN:342156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:126050 {source="MONDO:equivalentTo"}
xref: SCTID:715314008 {source="MONDO:directSiblingOf"}
xref: UMLS:C1852085 {source="MONDO:equivalentTo", source="MEDGEN:342156", source="MONDO:MEDGEN"}
is_a: MONDO:0015240 {source="Orphanet:1146/btnt"} ! digitotalar dysmorphism

[Term]
id: MONDO:0007459
name: dilution, pigmentary
synonym: "albinism, partial" RELATED [OMIM:126070]
synonym: "Albinoidism, oculocutaneous, autosomal dominant" RELATED [OMIM:126070]
synonym: "dilution, pigmentary" EXACT [OMIM:126070]
synonym: "hypomelanotic disorder" RELATED [GARD:0006731]
synonym: "hypopigmentation" RELATED [OMIM:126070]
xref: MEDGEN:406294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566872 {source="MONDO:equivalentTo"}
xref: OMIM:126070 {source="MONDO:equivalentTo"}
xref: SCTID:23006000 {source="MONDO:equivalentTo"}
xref: UMLS:C1876214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:406294"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007460
name: discrimination, Two-point, reduction 1N
synonym: "discrimination, TWO-point, reduction IN" RELATED [OMIM:126180]
synonym: "discrimination, Two-point, reduction type 1N" EXACT [MONDORULE:4, OMIM:126180]
synonym: "sensory discrimination" RELATED [OMIM:126180]
xref: MEDGEN:343713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:126180 {source="MONDO:equivalentTo"}
xref: UMLS:C1852074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343713"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007461
name: short stature-valvular heart disease-characteristic facies syndrome
def: "Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." [Orphanet:2868]
subset: gard_rare {source="GARD:16612", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2868"}
subset: ordo_malformation_syndrome {source="Orphanet:2868"}
subset: orphanet_rare {source="Orphanet:2868"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disproportionate short stature with ptosis and valvular heart lesions" RELATED [OMIM:126190]
xref: GARD:16612 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2868/attributed", source="Orphanet:2868/ntbt", source="Orphanet:2868"}
xref: MEDGEN:338866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565094 {source="MONDO:equivalentTo"}
xref: OMIM:126190 {source="Orphanet:2868/e", source="MONDO:equivalentTo", source="Orphanet:2868"}
xref: Orphanet:2868 {source="MONDO:equivalentTo", source="OMIM:126190"}
xref: UMLS:C1852073 {source="MEDGEN:338866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2868"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2868", source="Orphanet:2868/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0007462
name: multiple sclerosis, susceptibility to
subset: predisposition
subset: prototype_pattern
synonym: "disseminated sclerosis" RELATED [OMIM:126200]
synonym: "MS" RELATED ABBREVIATION [OMIM:126200]
xref: MEDGEN:358269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:126200 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:802 {source="OMIM:126200"}
xref: UMLS:C1868685 {source="MEDGEN:358269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005301 ! multiple sclerosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:126200"} ! inherited

[Term]
id: MONDO:0007463
name: distal osteosclerosis
synonym: "distal osteosclerosis" EXACT [OMIM:126250]
synonym: "osteosclerosis, distal" RELATED [OMIM:126250]
xref: MEDGEN:338863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565093 {source="MONDO:equivalentTo"}
xref: OMIM:126250 {source="MONDO:equivalentTo"}
xref: UMLS:C1852063 {source="MEDGEN:338863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565093/inferred"} ! hereditary disease

[Term]
id: MONDO:0007464
name: obsolete isolated distichiasis
def: "OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." [Orphanet:99177]
subset: ordo_disorder {source="Orphanet:99177"}
subset: ordo_morphological_anomaly {source="Orphanet:99177"}
synonym: "distichiasis" RELATED [OMIM:126300]
synonym: "eyelashes, two rows of" RELATED [OMIM:126300]
xref: GARD:16899 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q10.3 {source="Orphanet:99177/attributed", source="Orphanet:99177/ntbt", source="Orphanet:99177"}
xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: OMIM:126300 {source="Orphanet:99177/e", source="MONDO:obsoleteEquivalent", source="Orphanet:99177"}
xref: Orphanet:99177 {source="MONDO:obsoleteEquivalent", source="OMIM:126300"}
xref: SCTID:95339000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
is_obsolete: true
consider: HP:0009743

[Term]
id: MONDO:0007465
name: distichiasis with congenital anomalies of the heart and peripheral vasculature
synonym: "distichiasis with congenital anomalies of the heart and peripheral vasculature" EXACT [OMIM:126320]
synonym: "distichiasis-congenital heart defects-peripheral vascular anomalies syndrome" EXACT [Orphanet:1683]
xref: MEDGEN:338862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565092 {source="MONDO:equivalentTo"}
xref: OMIM:126320 {source="MONDO:equivalentTo"}
xref: Orphanet:1683 {source="OMIM:126320", source="MONDO:equivalentObsolete"}
xref: UMLS:C1852062 {source="MEDGEN:338862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007466
name: DNA, satellite, 3
comment: Editor note: TODO check; Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "D1Z1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:126370]
synonym: "DNA, satellite, III" RELATED [MONDO:Lexical, OMIM:126370]
synonym: "DNA, satellite, type 3" EXACT [MONDORULE:1, OMIM:126370]
synonym: "HS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:126370]
xref: OMIM:126370 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0007467
name: DNA, low-repetitive sequences of
comment: Editor note: TODO check
synonym: "DNA, low-repetitive sequences of" EXACT [OMIM:126390]
synonym: "repetitive sequence DNA" RELATED [OMIM:126390]
xref: MEDGEN:342148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:126390 {source="MONDO:equivalentTo"}
xref: UMLS:C1852041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342148"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007468
name: obsolete DNA, satellite, alpha type
comment: Not a disorder
synonym: "DNA, satellite, alpha type" EXACT [OMIM:126410]
xref: OMIM:126410 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2287" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007469
name: double nail for fifth toe
synonym: "double nail for fifth toe" EXACT [OMIM:126500]
synonym: "Double nails on the fifth toe" RELATED [GARD:0009672]
synonym: "fifth toe, double nails" RELATED [GARD:0009672]
xref: MEDGEN:343705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565090 {source="MONDO:equivalentTo"}
xref: OMIM:126500 {source="MONDO:equivalentTo", source="GARD:0009672"}
xref: UMLS:C1852023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343705"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_location UBERON:0003635 ! pedal digit 5
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9672/double-nails-on-the-fifth-toe" xsd:anyURI {source="GARD:0009672"}

[Term]
id: MONDO:0007470
name: calvarial doughnut lesions-bone fragility syndrome
def: "This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." [Orphanet:85192]
subset: gard_rare {source="GARD:16739", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85192"}
subset: ordo_malformation_syndrome {source="Orphanet:85192"}
subset: orphanet_rare {source="Orphanet:85192"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" EXACT [OMIM:126550, OMIM:genemap2]
synonym: "doughnut lesions of skull, familial" RELATED [OMIM:126550]
synonym: "familial doughnut lesions of skull" EXACT [Orphanet:85192]
xref: DOID:0080721 {source="MONDO:equivalentTo"}
xref: GARD:16739 {source="MONDO:GARD"}
xref: ICD10CM:M85.8 {source="Orphanet:85192", source="Orphanet:85192/attributed", source="Orphanet:85192/ntbt"}
xref: MEDGEN:377572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565089 {source="MONDO:equivalentTo"}
xref: OMIM:126550 {source="MONDO:equivalentTo", source="Orphanet:85192", source="Orphanet:85192/e"}
xref: Orphanet:85192 {source="OMIM:126550", source="MONDO:equivalentTo"}
xref: SCTID:720598005 {source="MONDO:equivalentTo"}
xref: UMLS:C1852022 {source="MEDGEN:377572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="Orphanet:85192"} ! skeletal dysplasia
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: disease_has_feature HP:0004349 {source="Orphanet:85192"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:85192", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007471
name: Doyne honeycomb retinal dystrophy
def: "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." [https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1912", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75376"}
subset: orphanet_rare {source="Orphanet:75376"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DHD" RELATED ABBREVIATION [GARD:0001912]
synonym: "DHRD" EXACT ABBREVIATION [DOID:0060745, MONDO:Lexical, OMIM:126600, Orphanet:75376]
synonym: "dominant drusen" EXACT [Orphanet:75376]
synonym: "dominant radial drusen" EXACT [Orphanet:75376]
synonym: "Doyne honeycomb degeneration of retina" EXACT [DOID:0060745, OMIM:126600]
synonym: "Doyne honeycomb retinal dystrophy" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:126600, Orphanet:75376]
synonym: "drusen, radial, autosomal dominant" RELATED [OMIM:126600]
synonym: "familial drusen" RELATED [Orphanet:75376]
synonym: "Malattia leventinese" EXACT [OMIM:126600, Orphanet:75376]
xref: DOID:0060745 {source="MONDO:equivalentTo"}
xref: GARD:1912 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:75376", source="MONDO:relatedTo", source="Orphanet:75376/attributed", source="Orphanet:75376/ntbt", source="DOID:0060745"}
xref: MEDGEN:321900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:126600 {source="Orphanet:75376", source="MONDO:equivalentTo", source="Orphanet:75376/e", source="DOID:0060745"}
xref: Orphanet:75376 {source="MONDO:equivalentTo", source="DOID:0060745", source="OMIM:126600"}
xref: SCTID:193411004 {source="MONDO:equivalentTo"}
xref: UMLS:C1832174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321900"}
is_a: MONDO:0006949 {source="DOID:0060745"} ! retinal drusen
is_a: MONDO:0016420 {source="Orphanet:75376"} ! familial flecked retinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3218 {source="MONDO:mim2gene_medgen"} ! EFEMP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy" xsd:anyURI {source="GARD:0001912"}

[Term]
id: MONDO:0007472
name: basal laminar drusen
def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." [DOID:0060746, PMID:18252232, PMID:5448127]
subset: gard_rare {source="GARD:15060", source="MONDO:GARD"}
subset: rare
synonym: "basal laminar drusen" EXACT [OMIM:126700]
synonym: "cuticular drusen" EXACT [DOID:0060746]
synonym: "drusen of Bruch membrane" EXACT [DOID:0060746, OMIM:126700]
synonym: "drusen, cuticular" RELATED [OMIM:126700]
synonym: "drusen, early adult-onset, grouped" RELATED [OMIM:126700]
synonym: "early adult-onset grouped drusen" EXACT [DOID:0060746]
xref: DOID:0060746 {source="MONDO:equivalentTo"}
xref: GARD:15060 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0060746"}
xref: MEDGEN:152676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563034 {source="MONDO:equivalentTo"}
xref: OMIM:126700 {source="MONDO:equivalentTo", source="DOID:0060746"}
xref: Orphanet:75376 {source="OMIM:126700", source="DOID:0060746"}
xref: UMLS:C0730295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152676"}
is_a: MONDO:0006949 {source="PMID:18252232", source="https://orcid.org/0000-0002-6601-2165"} ! retinal drusen
intersection_of: MONDO:0006949 ! retinal drusen
intersection_of: disease_has_location UBERON:0003957 ! Bruch's membrane
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 ! CFH
relationship: disease_has_location UBERON:0003957 ! Bruch's membrane
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 {source="MONDO:mim2gene_medgen"} ! CFH

[Term]
id: MONDO:0007473
name: Duane retraction syndrome
def: "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." [Orphanet:233]
subset: gard_rare {source="GARD:6288", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1062", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:233"}
subset: ordo_malformation_syndrome {source="Orphanet:233"}
subset: orphanet_rare {source="Orphanet:233"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "DRS" EXACT ABBREVIATION [Orphanet:233]
synonym: "Duane anomaly" RELATED [GARD:0006288, OMIM:126800]
synonym: "Duane retraction syndrome" EXACT [GARD:0006288]
synonym: "Duane syndrome" EXACT [NORD:1062, Orphanet:233]
synonym: "Duane's syndrome" EXACT [DOID:12557, ICD9CM:378.71]
synonym: "DURS" EXACT ABBREVIATION [Orphanet:233]
synonym: "retraction syndrome" RELATED [OMIM:126800]
synonym: "Stilling-Turk-Duane syndrome" EXACT [DOID:12557, GARD:0006288, Orphanet:233]
xref: DOID:12557 {source="MONDO:equivalentTo"}
xref: GARD:6288 {source="MONDO:GARD"}
xref: ICD10CM:H50.8 {source="Orphanet:233/ntbt", source="Orphanet:233/inclusion", source="Orphanet:233"}
xref: ICD10CM:H50.81 {source="DOID:12557"}
xref: ICD9:378.71 {source="DOID:12557", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10013799 {source="Orphanet:233/e", source="Orphanet:233"}
xref: MEDGEN:4413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004370 {source="DOID:12557", source="Orphanet:233/e", source="MONDO:equivalentTo", source="Orphanet:233"}
xref: NCIT:C84678 {source="DOID:12557", source="MONDO:equivalentTo"}
xref: NORD:1062 {source="MONDO:NORD"}
xref: OMIMPS:126800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:233 {source="MONDO:equivalentTo", source="GARD:0006288"}
xref: SCTID:60318001 {source="DOID:12557", source="MONDO:equivalentTo"}
xref: UMLS:C0013261 {source="MEDGEN:4413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84678", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015083 {source="Orphanet:233"} ! nuclear oculomotor paralysis
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0003432 {source="DOID:12557", source="https://orcid.org/0000-0001-5208-3432"} ! strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:126800"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome" xsd:anyURI {source="GARD:0006288"}

[Term]
id: MONDO:0007474
name: duodenal ulcer due to antral G-cell hyperfunction
synonym: "duodenal ulcer due to antral G-cell hyperfunction" EXACT [OMIM:126840]
synonym: "hypergastrinemic, hyperpepsinogenemic duodenal ulcer" RELATED [GARD:0009743]
xref: MEDGEN:338843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535721 {source="MONDO:equivalentTo"}
xref: OMIM:126840 {source="MONDO:equivalentTo"}
xref: UMLS:C1852009 {source="MEDGEN:338843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9743/duodenal-ulcer-due-to-antral-g-cell-hyperfunction" xsd:anyURI {source="GARD:0009743"}

[Term]
id: MONDO:0007475
name: duodenal ulcer, hyperpepsinogenemic 1
synonym: "duodenal ulcer, hyperpepsinogenemic I" RELATED [OMIM:126850]
synonym: "duodenal Ulcer, hyperpepsinogenemic type 1" EXACT [MONDORULE:1, OMIM:126850]
xref: MEDGEN:343701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565086 {source="MONDO:equivalentTo"}
xref: OMIM:126850 {source="MONDO:equivalentTo"}
xref: UMLS:C1852008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343701"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007476
name: familial Dupuytren contracture
def: "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." [Orphanet:79142]
synonym: "Dupuytren contracture" RELATED [OMIM:126900]
synonym: "Dupuytren contracture 1" RELATED [OMIM:126900]
synonym: "plantar fibromas" RELATED [OMIM:126900]
synonym: "plantar fibromatosis, familial" RELATED [OMIM:126900]
xref: ICD10CM:M72.0 {source="Orphanet:79142", source="Orphanet:79142/attributed", source="Orphanet:79142/ntbt"}
xref: MEDGEN:41672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:126900 {source="MONDO:equivalentTo", source="Orphanet:79142", source="Orphanet:79142/e"}
xref: Orphanet:79142 {source="MONDO:equivalentObsolete", source="OMIM:126900"}
xref: SCTID:274142002 {source="MONDO:equivalentTo"}
xref: UMLS:C0013312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41672"}
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0016037 {source="Orphanet:79142"} ! superficial Fibromatosis

[Term]
id: MONDO:0007477
name: 3-M syndrome
def: "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." [Orphanet:2616]
subset: gard_rare {source="GARD:5667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1767"}
subset: ordo_disorder {source="Orphanet:2616"}
subset: ordo_malformation_syndrome {source="Orphanet:2616"}
subset: orphanet_rare {source="Orphanet:2616"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "3-M syndrome" EXACT [MESH:C535314, Orphanet:2616]
synonym: "3-MSBN" RELATED [GARD:0005667]
synonym: "3M syndrome" RELATED [MESH:C535314]
synonym: "3M1" NARROW ABBREVIATION [MESH:C535314]
synonym: "Dolichospondylic dysplasia" EXACT [Orphanet:2616]
synonym: "dolichospondylic dysplasia" EXACT [DOID:0060241]
synonym: "dwarfism with tall vertebrae" RELATED [OMIM:126950]
synonym: "gloomy face syndrome" EXACT [DOID:0060241, Orphanet:2616]
synonym: "gloomy face syndrome Yakut short stature syndrome, included" RELATED [MESH:C535314]
synonym: "Le Merrer syndrome" EXACT [DOID:0060241, Orphanet:2616]
synonym: "Miller-McKusick-Malvaux syndrome" EXACT [DOID:0060241]
synonym: "Three M Syndrome" EXACT [NORD:1767]
synonym: "three M syndrome" EXACT [DOID:0060241, MESH:C535314]
synonym: "three M syndrome 1" NARROW [MESH:C535314]
synonym: "three-M slender-boned nanism" RELATED [MESH:C535314]
synonym: "Yakut short stature syndrome" EXACT [DOID:0060241, Orphanet:2616]
xref: DOID:0060241 {source="MONDO:equivalentTo"}
xref: GARD:5667 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2616", source="Orphanet:2616/attributed", source="Orphanet:2616/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:336440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535314 {source="DOID:0060241", source="MONDO:equivalentTo"}
xref: MESH:C535725 {source="DOID:0060241"}
xref: NORD:1767 {source="MONDO:NORD"}
xref: OMIMPS:273750 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2616 {source="DOID:0060241", source="MONDO:equivalentTo"}
xref: Orphanet:2661 {source="OMIM:126950"}
xref: SCTID:702342007 {source="DOID:0060241", source="MONDO:equivalentTo"}
xref: UMLS:C1848862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336440"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0060241", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015161 {source="Orphanet:2616"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_characteristic HP:0000007 {source="Orphanet:2616"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:273750"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0007478
name: autosomal dominant Kenny-Caffey syndrome
def: "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones." [NCIT:C130993]
subset: gard_rare {source="GARD:83", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93325"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93325"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" RELATED [GARD:0000083]
synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" RELATED [OMIM:127000]
synonym: "KCS2" RELATED ABBREVIATION [GARD:0000083, MONDO:Lexical, OMIM:127000]
synonym: "Kenny syndrome" BROAD [OMIM:127000]
synonym: "Kenny-Caffey syndrome type 2" EXACT [NCIT:C130993]
synonym: "Kenny-Caffey syndrome, autosomal dominant" EXACT [GARD:0000083, MONDO:patterns/autosomal_dominant]
synonym: "Kenny-Caffey syndrome, type 2" RELATED [MONDO:Lexical, OMIM:127000]
xref: DOID:0080723 {source="MONDO:equivalentTo"}
xref: GARD:83 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:93325", source="Orphanet:93325/attributed", source="Orphanet:93325/ntbt"}
xref: MEDGEN:1373312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C130993 {source="MONDO:equivalentTo"}
xref: OMIM:127000 {source="MONDO:equivalentTo", source="Orphanet:93325", source="GARD:0000083", source="Orphanet:93325/e"}
xref: Orphanet:2333 {source="OMIM:127000"}
xref: Orphanet:93325 {source="OMIM:127000", source="MONDO:equivalentTo", source="GARD:0000083"}
xref: UMLS:C4316787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373312"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130993"} ! syndromic disease
is_a: MONDO:0016516 {source="DC-OMIM:127000", source="MONDO:Redundant", source="OMIM:127000", source="Orphanet:93325"} ! Kenny-Caffey syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0016516 ! Kenny-Caffey syndrome
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24725 {source="MONDO:mim2gene_medgen"} ! FAM111A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2" xsd:anyURI {source="GARD:0000083"}

[Term]
id: MONDO:0007479
name: dwarfism, Levi type
synonym: "dwarfism Levi type" RELATED [GARD:0006294]
synonym: "dwarfism Levi's type" RELATED [GARD:0006294]
synonym: "dwarfism, Levi type" EXACT [OMIM:127100]
synonym: "snub-nosed type of dwarfism" RELATED [OMIM:127100]
xref: MEDGEN:338837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565081 {source="MONDO:equivalentTo"}
xref: OMIM:127100 {source="MONDO:equivalentTo"}
xref: UMLS:C1851994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338837"}
is_a: MONDO:0003847 {source="MESH:C565081/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6294/dwarfism-levi-type" xsd:anyURI {source="GARD:0006294"}

[Term]
id: MONDO:0007480
name: dwarfism with stiff joints and ocular abnormalities
synonym: "dwarfism with stiff joints and ocular abnormalities" EXACT [OMIM:127200]
synonym: "Moore-Federman syndrome" RELATED [OMIM:127200]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535724 {source="MONDO:equivalentTo"}
xref: OMIM:127200 {source="MONDO:equivalentTo"}
xref: Orphanet:2569 {source="OMIM:127200", source="MONDO:equivalentObsolete"}
xref: SCTID:72913007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82709"}
is_a: MONDO:0003847 {source="MESH:C535724/inferred"} ! hereditary disease

[Term]
id: MONDO:0007481
name: Leri-Weill dyschondrosteosis
def: "Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity." [Orphanet:240]
subset: gard_rare {source="GARD:3224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1070"}
subset: ordo_disorder {source="Orphanet:240"}
subset: ordo_malformation_syndrome {source="Orphanet:240"}
subset: orphanet_rare {source="Orphanet:240"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DCo" RELATED [GARD:0003224]
synonym: "dyschondrosteosis" RELATED [GARD:0003224, OMIM:127300]
synonym: "Leri Weill dyschondrosteosis" EXACT [GARD:0003224]
synonym: "Leri-Weill dyschondrosteosis" EXACT CLINGEN_LABEL [GARD:0003224, MONDO:Lexical, OMIM:127300]
synonym: "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant" EXACT [OMIM:127300, OMIM:genemap2]
synonym: "Leri-Weill dyschondrostosis" EXACT [DECIPHER:58]
synonym: "Leri-Weill syndrome" EXACT [NCIT:C126560, Orphanet:240]
synonym: "LWD" EXACT ABBREVIATION [DECIPHER:58, GARD:0003224, MONDO:Lexical, OMIM:127300]
synonym: "Léri-Weill dyschondrosteosis" EXACT [GARD:0003224]
synonym: "Léri-Weill syndrome" EXACT [Orphanet:240]
synonym: "Madelung deformity" RELATED [OMIM:127300]
xref: DECIPHER:58 {source="MONDO:equivalentTo"}
xref: DOID:0060847 {source="MONDO:equivalentTo"}
xref: GARD:3224 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:240/attributed", source="Orphanet:240/ntbt", source="Orphanet:240", source="DOID:0060847"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537119 {source="Orphanet:240/e", source="Orphanet:240", source="DOID:0060847"}
xref: NCIT:C126560 {source="MONDO:equivalentTo"}
xref: NORD:1070 {source="MONDO:NORD"}
xref: OMIM:127300 {source="Orphanet:240/e", source="GARD:0003224", source="MONDO:equivalentTo", source="Orphanet:240", source="DOID:0060847"}
xref: Orphanet:240 {source="GARD:0003224", source="OMIM:127300", source="MONDO:equivalentTo", source="DOID:0060847"}
xref: Orphanet:35688 {source="OMIM:127300"}
xref: SCTID:17818006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75562"}
is_a: MONDO:0005516 {source="DOID:0060847"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis" xsd:anyURI {source="GARD:0003224"}

[Term]
id: MONDO:0007482
name: dyschondrosteosis-nephritis syndrome
def: "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." [Orphanet:1765]
subset: gard_rare {source="GARD:1994", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1765"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dyschondrosteosis and nephritis" RELATED [OMIM:127350]
synonym: "dyschondrosteosis nephritis" RELATED [GARD:0001994]
synonym: "mesomelic shortening and hereditary nephritis" RELATED [GARD:0001994]
xref: GARD:1994 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1765", source="Orphanet:1765/attributed", source="Orphanet:1765/ntbt"}
xref: MEDGEN:342135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565080 {source="MONDO:equivalentTo"}
xref: OMIM:127350 {source="GARD:0001994", source="MONDO:equivalentTo", source="Orphanet:1765", source="Orphanet:1765/e"}
xref: Orphanet:1765 {source="GARD:0001994", source="MONDO:equivalentTo", source="OMIM:127350"}
xref: UMLS:C1851986 {source="MEDGEN:342135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis" xsd:anyURI {source="GARD:0001994"}

[Term]
id: MONDO:0007483
name: dyschromatosis symmetrica hereditaria
def: "Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." [Orphanet:41]
subset: gard_rare {source="GARD:334", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:41"}
subset: orphanet_rare {source="Orphanet:41"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acropigmentation of Dohi" EXACT [Orphanet:41]
synonym: "DSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:127400]
synonym: "DSH1" EXACT ABBREVIATION [NCIT:C118435]
synonym: "dyschromatosis symmetrica hereditaria" EXACT [MONDO:Lexical, OMIM:127400]
synonym: "dyschromatosis symmetrica hereditaria 1" RELATED [OMIM:127400]
synonym: "familial reticulate acropigmentation of Dohi" RELATED [GARD:0000334]
synonym: "RAD" EXACT ABBREVIATION [NCIT:C118435]
synonym: "reticulate acropigmentation of Dohi" EXACT [DOID:0060257, OMIM:127400]
synonym: "symmetric dyschromatosis of the extremities" RELATED [OMIM:127400]
xref: DOID:0060257 {source="MONDO:equivalentTo"}
xref: GARD:334 {source="MONDO:GARD"}
xref: ICD10CM:L81.8 {source="Orphanet:41/attributed", source="Orphanet:41/ntbt", source="Orphanet:41"}
xref: MEDGEN:96071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535729 {source="DOID:0060257", source="Orphanet:41/e", source="MONDO:equivalentTo", source="Orphanet:41"}
xref: NCIT:C118435 {source="DOID:0060257", source="MONDO:equivalentTo"}
xref: OMIM:127400 {source="DOID:0060257", source="Orphanet:41/e", source="MONDO:equivalentTo", source="Orphanet:41"}
xref: Orphanet:41 {source="DOID:0060257", source="OMIM:127400", source="MONDO:equivalentTo"}
xref: SCTID:239085000 {source="DOID:0060257", source="MONDO:equivalentTo"}
xref: UMLS:C0406775 {source="MONDO:equivalentTo", source="MEDGEN:96071", source="MONDO:MEDGEN"}
is_a: MONDO:0000118 {source="DC-OMIM:127400", source="OMIM:127400"} ! reticulate pigment disorder
is_a: MONDO:0019289 {source="Orphanet:41"} ! hyperpigmentation of the skin
is_a: MONDO:0700261 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! ADAR-related type 1 interferonopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/225 {source="MONDO:mim2gene_medgen"} ! ADAR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0007484
name: obsolete dyschromatosis universalis
is_obsolete: true
replaced_by: MONDO:0000736

[Term]
id: MONDO:0007485
name: dyskeratosis congenita, autosomal dominant 1
def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2." [DOID:0070014]
subset: gard_rare {source="GARD:6299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: prototype_pattern
subset: rare
synonym: "autosomal dominant dyskeratosis congenita" RELATED [GARD:0006299]
synonym: "autosomal dominant dyskeratosis congenita 1" RELATED [DOID:0070014]
synonym: "DKCA" RELATED ABBREVIATION [GARD:0006299]
synonym: "DKCA1" EXACT ABBREVIATION [DOID:0070014, MONDO:Lexical, OMIM:127550]
synonym: "dyskeratosis congenita autosomal dominant" RELATED [GARD:0006299]
synonym: "dyskeratosis congenita Scoggins type" RELATED [GARD:0006299]
synonym: "dyskeratosis congenita, autosomal dominant 1" EXACT [MONDO:Lexical, OMIM:127550]
synonym: "dyskeratosis congenita, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:127550]
synonym: "dyskeratosis congenita, Scoggins type" EXACT [DOID:0070014, OMIM:127550]
xref: DOID:0070014 {source="MONDO:equivalentTo"}
xref: GARD:6299 {source="MONDO:GARD"}
xref: MEDGEN:1645250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565079 {source="MONDO:equivalentTo"}
xref: NCIT:C176921 {source="MONDO:equivalentTo"}
xref: OMIM:127550 {source="DOID:0070014", source="MONDO:equivalentTo", source="GARD:0006299"}
xref: Orphanet:1775 {source="OMIM:127550", source="GARD:0006299"}
xref: SCTID:707273001 {source="MONDO:equivalentTo"}
xref: UMLS:C4551974 {source="MEDGEN:1645250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015780 {source="DC-OMIM:127550", source="DOID:0070014", source="MESH:C565079", source="OMIM:127550"} ! dyskeratosis congenita
is_a: MONDO:0100137 {source="https://github.com/monarch-initiative/mondo/issues/1631"} ! telomere syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant" xsd:anyURI {source="GARD:0006299"}

[Term]
id: MONDO:0007486
name: hereditary benign intraepithelial dyskeratosis
def: "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." [NCIT:C3940]
subset: gard_rare {source="GARD:17524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352657"}
subset: orphanet_rare {source="Orphanet:352657"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dkbi" RELATED [OMIM:127600]
synonym: "dyskeratosis, hereditary benign intraepithelial" RELATED [MONDO:Lexical, OMIM:127600]
synonym: "HBID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127600, Orphanet:352657]
synonym: "hereditary benign corneal intraepithelial dyskeratosis" EXACT [Orphanet:352657]
synonym: "Witkop-Von Sallmann disease" EXACT [NCIT:C3940]
xref: GARD:17524 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:352657/attributed", source="Orphanet:352657/ntbt", source="Orphanet:352657"}
xref: MEDGEN:75588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562551 {source="MONDO:equivalentTo"}
xref: NCIT:C3940 {source="MONDO:equivalentTo"}
xref: OMIM:127600 {source="Orphanet:352657/e", source="MONDO:equivalentTo", source="Orphanet:352657"}
xref: Orphanet:352657 {source="MONDO:equivalentTo", source="OMIM:127600"}
xref: SCTID:400014002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265966 {source="MEDGEN:75588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C3940"} ! syndromic disease
is_a: MONDO:0020212 {source="Orphanet:352657"} ! superficial corneal dystrophy

[Term]
id: MONDO:0007487
name: dyslexia, susceptibility to, 1
subset: predisposition
synonym: "dyslexia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:127700]
synonym: "dyslexia, susceptibility to, 4" RELATED [OMIM:127700]
synonym: "dyslexia, susceptibility to, 7" RELATED [OMIM:127700]
synonym: "dyslexia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:127700]
synonym: "DYX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:127700]
synonym: "reading disability, specific, 1" RELATED [OMIM:127700]
synonym: "susceptibility to dyslexia 1" RELATED [OMIM:127700]
synonym: "Word-blindness, congenital" RELATED [OMIM:127700]
xref: MEDGEN:338828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:127700 {source="MONDO:equivalentTo"}
xref: UMLS:C1851967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338828"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21493 ! DNAAF4
intersection_of: predisposes_towards MONDO:0005489 ! dyslexia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21493 {source="MONDO:mim2gene_medgen"} ! DNAAF4

[Term]
id: MONDO:0007488
name: Lewy body dementia
def: "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." [NCIT:P378]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cortical Lewy body disease" EXACT [Orphanet:1648]
synonym: "dementia with Lewy bodies" EXACT [DOID:12217, ICD9CM:331.82, ISBN-13:978-1-259-64403-0]
synonym: "dementia, Lewy body" RELATED [MONDO:Lexical, OMIM:127750]
synonym: "diffuse Lewy body disease" RELATED [OMIM:127750, Orphanet:1648]
synonym: "diffuse Lewy body disease with gaze palsy" RELATED [OMIM:127750]
synonym: "DLB" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127750, Orphanet:1648]
synonym: "Lewy body dementia" EXACT [OMIM:127750, Orphanet:1648]
synonym: "lewy body dementia, susceptibility to" EXACT [OMIM:127750, OMIM:genemap2]
synonym: "Lewy body disease" EXACT [DOID:12217]
synonym: "Lewy body variant of Alzheimer disease" RELATED [OMIM:127750]
synonym: "Senile dementia of the Lewy body type" EXACT [DOID:12217]
xref: DOID:12217 {source="MONDO:equivalentTo"}
xref: EFO:0006792 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G31.83 {source="DOID:12217", source="MONDO:equivalentTo"}
xref: ICD9:331.82 {source="DOID:12217"}
xref: MEDGEN:199874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020961 {source="DOID:12217"}
xref: NCIT:C84826 {source="DOID:12217", source="MONDO:equivalentTo"}
xref: OMIM:127750 {source="DOID:12217", source="MONDO:equivalentTo"}
xref: Orphanet:1648 {source="OMIM:127750", source="MONDO:equivalentObsolete"}
xref: SCTID:192808003 {source="DOID:12217"}
xref: SCTID:230275004 {source="DOID:12217"}
xref: SCTID:230276003 {source="DOID:12217"}
xref: SCTID:230277007 {source="DOID:12217"}
xref: SCTID:312991009 {source="DOID:12217", source="MONDO:equivalentTo"}
xref: SCTID:80098002 {source="DOID:12217"}
xref: UMLS:C0752347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199874"}
is_a: MONDO:0000510 {source="DOID:12217"} ! synucleinopathy
is_a: MONDO:0001627 {source="DOID:12217", source="MONDO:Redundant", source="NCIT:C84826"} ! dementia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007489
name: dysplasia epiphysealis hemimelica
def: "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known." [https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica]
subset: gard_rare {source="GARD:2019", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1072", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1822"}
subset: ordo_malformation_syndrome {source="Orphanet:1822"}
subset: orphanet_rare {source="Orphanet:1822"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysplasia epiphysealis hemimelica" EXACT [OMIM:127800]
synonym: "Trevor disease" EXACT [OMIM:127800, Orphanet:1822]
xref: GARD:2019 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:1822", source="Orphanet:1822/attributed", source="Orphanet:1822/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537997 {source="MONDO:equivalentTo", source="Orphanet:1822", source="Orphanet:1822/e"}
xref: NORD:1072 {source="MONDO:NORD"}
xref: OMIM:127800 {source="MONDO:equivalentTo", source="Orphanet:1822", source="Orphanet:1822/e"}
xref: Orphanet:1822 {source="MONDO:equivalentTo", source="OMIM:127800"}
xref: SCTID:205480005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96591"}
is_a: MONDO:0018230 {source="Orphanet:1822"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:1822", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica" xsd:anyURI {source="GARD:0002019"}

[Term]
id: MONDO:0007490
name: carpotarsal osteochondromatosis
def: "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." [Orphanet:2767]
subset: gard_rare {source="GARD:1128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2767"}
subset: ordo_malformation_syndrome {source="Orphanet:2767"}
subset: orphanet_rare {source="Orphanet:2767"}
subset: rare
synonym: "dominant carpotarsal osteochondromatosis" RELATED [GARD:0001128]
synonym: "dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas" RELATED [OMIM:127820]
synonym: "Maroteaux Le Merrer Bensahel syndrome" RELATED [GARD:0001128]
synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT [Orphanet:2767]
synonym: "osteochondromatosis, dominant carpotarsal" RELATED [OMIM:127820]
xref: GARD:1128 {source="MONDO:GARD"}
xref: ICD10CM:D16.9 {source="Orphanet:2767", source="Orphanet:2767/attributed", source="Orphanet:2767/ntbt"}
xref: MEDGEN:377557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565076 {source="MONDO:equivalentTo"}
xref: OMIM:127820 {source="MONDO:equivalentTo", source="Orphanet:2767", source="Orphanet:2767/e"}
xref: Orphanet:2767 {source="MONDO:equivalentTo", source="OMIM:127820"}
xref: SCTID:389272007 {source="MONDO:equivalentTo"}
xref: UMLS:C1851956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377557"}
is_a: MONDO:0018230 {source="Orphanet:2767"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2767", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis" xsd:anyURI {source="GARD:0001128"}

[Term]
id: MONDO:0007491
name: dystelephalangy
synonym: "congenital bilateral metadiaphyseal acrodysplasia of the little finger" RELATED [GARD:0010059]
synonym: "dystelephalangy" EXACT [OMIM:128000]
synonym: "Kirner deformity" RELATED [OMIM:128000]
xref: MEDGEN:343690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538000 {source="MONDO:equivalentTo"}
xref: OMIM:128000 {source="MONDO:equivalentTo"}
xref: UMLS:C1851955 {source="MEDGEN:343690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy" xsd:anyURI {source="GARD:0010059"}

[Term]
id: MONDO:0007492
name: early-onset generalized limb-onset dystonia
alt_id: MONDO:0023033
def: "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body." [Orphanet:256]
subset: gard_rare {source="GARD:2027", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:256"}
subset: orphanet_rare {source="Orphanet:256"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 1" RELATED [GARD:0002027]
synonym: "dystonia 1, torsion, Autosomal dominant" RELATED [MESH:C538005]
synonym: "dystonia 1, torsion, autosomal dominant" RELATED [GARD:0002027, MONDO:Lexical, OMIM:128100]
synonym: "dystonia musculorum deformans" EXACT [DOID:0060730, Orphanet:256]
synonym: "dystonia musculorum deformans 1" RELATED [GARD:0002027, MESH:C538005, OMIM:128100]
synonym: "dystonia-1, torsion" EXACT [OMIM:128100, OMIM:genemap2]
synonym: "DYT-TOR1A" EXACT [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT-TOR1A dystonia" RELATED [GARD:0002027]
synonym: "DYT1" EXACT ABBREVIATION [Orphanet:256]
synonym: "Dyt1" RELATED [MESH:C538005]
synonym: "early onset primary dystonia" EXACT [NCIT:C116718]
synonym: "early onset torsion dystonia" EXACT [GARD:0002027, MESH:C538005, NCIT:C116718]
synonym: "early-onset generalised torsion dystonia" EXACT OMO:0003005 []
synonym: "early-onset generalized limb-onset dystonia" EXACT [Orphanet:256]
synonym: "early-onset generalized torsion dystonia" EXACT [MESH:C538005, Orphanet:256]
synonym: "Early-onset Primary dystonia" RELATED [MESH:C538005]
synonym: "early-onset primary dystonia" EXACT [Orphanet:256]
synonym: "Early-onset torsion dystonia" RELATED [MESH:C538005]
synonym: "early-onset torsion dystonia" EXACT [OMIM:128100, Orphanet:256]
synonym: "EOTD" EXACT ABBREVIATION [GARD:0002027, MESH:C538005, Orphanet:256]
synonym: "idiopathic dystonia" EXACT [Orphanet:256]
synonym: "idiopathic dystonia DYT1" RELATED [GARD:0002027]
synonym: "idiopathic torsion dystonia" RELATED [Orphanet:256]
synonym: "Oppenheim dystonia" EXACT [MESH:C538005, Orphanet:256]
synonym: "Oppenheim's dystonia" EXACT [GARD:0002027, MESH:C538005, NCIT:C116718]
synonym: "Primary torsion dystonia" RELATED [MESH:C538005]
synonym: "torsion dystonia 1" RELATED [DOID:0060730]
synonym: "torsion dystonia 1, autosomal dominant" RELATED [MESH:C538005]
synonym: "torsion dystonia type 1" EXACT [DOID:0060730, MONDORULE:1]
xref: DOID:0060730 {source="MONDO:equivalentTo"}
xref: GARD:2027 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:256/specific", source="DOID:0060730", source="Orphanet:256/e", source="Orphanet:256"}
xref: MEDGEN:338823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538005 {source="MONDO:equivalentTo"}
xref: NANDO:1200512 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100240 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200884 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116718 {source="MONDO:equivalentTo"}
xref: OMIM:128100 {source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo", source="Orphanet:256/btnt", source="MEDIC:C538005", source="Orphanet:256"}
xref: Orphanet:256 {source="OMIM:128100", source="DOID:0060730", source="GARD:0002027", source="MONDO:equivalentTo"}
xref: UMLS:C1851945 {source="MONDO:equivalentTo", source="MEDGEN:338823", source="MONDO:MEDGEN"}
is_a: MONDO:0000476 {source="DOID:0060730", source="MESH:C538005", source="MONDO:indirect"} ! generalized dystonia
is_a: MONDO:0044807 {source="DOID:0060730/inferred", source="MESH:C538005/inferred", source="MONDO:Redundant", source="NCIT:C116718", source="OMIM:128100"} ! inherited dystonia
is_a: MONDO:0100016 {source="MONDO:nv"} ! early-onset generalized dystonia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3098 {source="MONDO:mim2gene_medgen"} ! TOR1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia" xsd:anyURI {source="GARD:0002027"}

[Term]
id: MONDO:0007493
name: torsion dystonia 4
def: "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." [Orphanet:98805]
subset: gard_rare {source="GARD:10138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98805"}
subset: orphanet_rare {source="Orphanet:98805"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant torsion dystonia-4" RELATED [GARD:0010138]
synonym: "dystonia 4, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:128101]
synonym: "dystonia musculorum deformans 4" RELATED [OMIM:128101]
synonym: "DYT4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:128101, Orphanet:98805]
synonym: "hereditary whispering dysphonia" EXACT [Orphanet:98805]
synonym: "primary dystonia, DYT4 type" RELATED [Orphanet:98805]
synonym: "torsion dystonia type 4" EXACT [DOID:0090041, MONDORULE:1]
synonym: "whispering dysphonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "whispering dysphonia, hereditary" RELATED [OMIM:128101]
xref: DOID:0090041 {source="MONDO:equivalentTo"}
xref: GARD:10138 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="DOID:0090041", source="Orphanet:98805/attributed", source="Orphanet:98805/ntbt", source="Orphanet:98805"}
xref: MEDGEN:342124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200515 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:128101 {source="DOID:0090041", source="Orphanet:98805/e", source="MONDO:equivalentTo", source="Orphanet:98805"}
xref: Orphanet:98805 {source="DOID:0090041", source="OMIM:128101", source="MONDO:equivalentTo"}
xref: SCTID:719276005 {source="MONDO:equivalentTo"}
xref: UMLS:C1851943 {source="MEDGEN:342124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015990 {source="Orphanet:98805"} ! focal, segmental or multifocal dystonia
is_a: MONDO:0044807 {source="DOID:0090041", source="MONDO:Redundant", source="OMIM:128101"} ! inherited dystonia

[Term]
id: MONDO:0007494
name: obsolete episodic kinesigenic dyskinesia 1
xref: NANDO:1200521 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2936" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100352

[Term]
id: MONDO:0007495
name: dystonia 5
def: "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." [Orphanet:98808]
subset: gard_rare {source="GARD:9817", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1702"}
subset: ordo_disorder {source="Orphanet:98808"}
subset: orphanet_rare {source="Orphanet:98808"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant dopa-responsive dystonia" RELATED [Orphanet:98808]
synonym: "autosomal dominant Segawa syndrome" EXACT [Orphanet:98808]
synonym: "Dopa-responsive dystonia, autosomal dominant" RELATED [OMIM:128230]
synonym: "Dopa-responsive dystonia; Segawa syndrome AD" RELATED [GARD:0012144]
synonym: "DRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:128230]
synonym: "dystonia 5" EXACT CLINGEN_LABEL [OMIM:128230]
synonym: "dystonia type 5" EXACT [DOID:0090043, MONDORULE:1]
synonym: "dystonia, DOPA-responsive" RELATED [MONDO:Lexical, OMIM:128230]
synonym: "dystonia, Dopa-responsive, autosomal dominant" RELATED [OMIM:128230]
synonym: "dystonia, DOPA-responsive, with or without hyperphenylalaninemia" EXACT [OMIM:128230, OMIM:genemap2]
synonym: "dystonia, progressive, with diurnal variation" RELATED [OMIM:128230]
synonym: "dystonia-Parkinsonism with diurnal fluctuation" RELATED [OMIM:128230]
synonym: "DYT-GCH1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT5a" EXACT [Orphanet:98808]
synonym: "GTP cyclohydrolase 1-deficient dopa-responsive dystonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "GTPCH1-deficient dopa-responsive dystonia" EXACT [Orphanet:98808]
synonym: "GTPCH1-deficient DRD" EXACT [Orphanet:98808]
synonym: "hereditary progressive dystonia with marked diurnal fluctuation" EXACT [Orphanet:98808]
synonym: "HPD with marked diurnal fluctuation" EXACT [Orphanet:98808]
synonym: "Segawa Syndrome" EXACT [NORD:1702]
synonym: "Segawa syndrome, autosomal dominant" RELATED [OMIM:128230]
xref: DOID:0060963 {source="MONDO:equivalentTo"}
xref: DOID:0090043 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:9817 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="DOID:0090043", source="Orphanet:98808/attributed", source="Orphanet:98808/ntbt", source="Orphanet:98808"}
xref: MEDGEN:342121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200516 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1702 {source="MONDO:NORD"}
xref: OMIM:128230 {source="DOID:0090043", source="Orphanet:98808/e", source="MONDO:equivalentTo", source="Orphanet:98808"}
xref: Orphanet:98808 {source="DOID:0090043", source="MONDO:equivalentTo", source="OMIM:128230"}
xref: SCTID:715768000 {source="MONDO:equivalentTo"}
xref: UMLS:C1851920 {source="MEDGEN:342121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016812 {source="Orphanet:98808"} ! dopa-responsive dystonia
is_a: MONDO:0044807 {source="DOID:0090043", source="MONDO:Redundant", source="OMIM:128230"} ! inherited dystonia
is_a: MONDO:0100184 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GTP cyclohydrolase I deficiency
relationship: disease_responds_to CHEBI:15765 ! L-dopa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4193 {source="MONDO:mim2gene_medgen"} ! GCH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007496
name: dystonia 12
def: "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." [Orphanet:71517]
subset: gard_rare {source="GARD:9628", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71517"}
subset: orphanet_rare {source="Orphanet:71517"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATP1A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dystonia 12" EXACT [MONDO:Lexical, OMIM:128235, Orphanet:71517]
synonym: "dystonia type 12" EXACT [DOID:0090056, MONDORULE:2, OMIM:128235]
synonym: "dystonia-12" EXACT [OMIM:128235, OMIM:genemap2]
synonym: "dystonia-Parkinsonism, rapid-onset" RELATED [OMIM:128235]
synonym: "dystonic disorder caused by mutation in ATP1A3" EXACT [MONDO:design_pattern]
synonym: "DYT-ATP1A3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:128235, Orphanet:71517]
synonym: "rapid-onset dystonia-parkinsonism" RELATED [Orphanet:71517]
synonym: "RDP" RELATED ABBREVIATION [GARD:0009628]
xref: DOID:0090056 {source="MONDO:equivalentTo"}
xref: GARD:9628 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="DOID:0090056", source="Orphanet:71517/attributed", source="Orphanet:71517/ntbt", source="Orphanet:71517"}
xref: MEDGEN:358384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538001 {source="MONDO:equivalentTo"}
xref: NANDO:1200523 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200524 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C157577 {source="MONDO:equivalentTo"}
xref: OMIM:128235 {source="Orphanet:71517/e", source="DOID:0090056", source="MONDO:equivalentTo", source="Orphanet:71517"}
xref: Orphanet:71517 {source="DOID:0090056", source="OMIM:128235", source="MONDO:equivalentTo"}
xref: SCTID:702323008 {source="MONDO:equivalentTo"}
xref: UMLS:C1868681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358384"}
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia
is_a: MONDO:0021095 {source="Orphanet:71517"} ! parkinsonian disorder
is_a: MONDO:0044807 {source="DOID:0090056", source="MESH:C538001", source="MONDO:Redundant", source="OMIM:128235"} ! inherited dystonia
intersection_of: MONDO:0044807 ! inherited dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 ! ATP1A3
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017660"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 {source="MONDO:mim2gene_medgen"} ! ATP1A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0007497
name: ear antitragus, tag at base of
synonym: "ear antitragus, tag at base of" EXACT [OMIM:128290]
xref: MEDGEN:343680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:128290 {source="MONDO:equivalentTo"}
xref: UMLS:C1851905 {source="MEDGEN:343680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007498
name: ear exostoses
synonym: "ear exostoses" EXACT [OMIM:128300]
synonym: "exostoses of external auditory canal" RELATED [OMIM:128300]
xref: MEDGEN:56363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:128300 {source="MONDO:equivalentTo"}
xref: UMLS:C0155411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56363"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007499
name: ear folding
synonym: "ear folding" EXACT [OMIM:128500]
xref: MEDGEN:377546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:128500 {source="MONDO:equivalentTo"}
xref: UMLS:C1851901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377546"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007500
name: ear malformation
subset: otar {source="MONDO:OTAR"}
synonym: "cup Ear" RELATED [OMIM:128600]
synonym: "ear malformation" EXACT [OMIM:128600]
xref: ICD10CM:Q10-Q18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:744.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:744.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:75618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:128600 {source="MONDO:equivalentTo"}
xref: SCTID:275259005 {source="MONDO:equivalentTo"}
xref: UMLS:C0266589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75618"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007501
name: preauricular fistulae, congenital
synonym: "Ear pits" RELATED [OMIM:128700]
synonym: "Pafc" RELATED [OMIM:128700]
synonym: "preauricular fistulae, congenital" EXACT [OMIM:128700]
xref: MEDGEN:154283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563015 {source="MONDO:equivalentTo"}
xref: OMIM:128700 {source="MONDO:equivalentTo"}
xref: UMLS:C0546969 {source="MEDGEN:154283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007502
name: ear pits, posterior helical
synonym: "ear pits, posterior helical" EXACT [OMIM:128710]
synonym: "earlobe Indentations, posterior" RELATED [OMIM:128710]
synonym: "posterior helical Ear pits" RELATED [OMIM:128710]
xref: MEDGEN:342119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:128710 {source="MONDO:equivalentTo"}
xref: UMLS:C1851900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342119"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007503
name: ear without helix
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ear without helix" EXACT [OMIM:128800]
xref: MEDGEN:343678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:128800 {source="MONDO:equivalentTo"}
xref: Orphanet:83463 {source="OMIM:128800"}
xref: UMLS:C1851899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343678"}
is_a: MONDO:0010920 {source="Orphanet:83463/btnt"} ! microtia

[Term]
id: MONDO:0007504
name: thickened earlobes-conductive deafness syndrome
def: "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant." [Orphanet:2405]
subset: gard_rare {source="GARD:2195", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2405"}
subset: ordo_malformation_syndrome {source="Orphanet:2405"}
subset: orphanet_rare {source="Orphanet:2405"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "earlobes, thickened, with conductive deafness from incudostapedial abnormalities" RELATED [OMIM:128980]
synonym: "Escher Hirt syndrome" RELATED [GARD:0002195]
synonym: "Escher-Hirt syndrome" EXACT [Orphanet:2405]
xref: GARD:2195 {source="MONDO:GARD"}
xref: ICD10CM:H90.0 {source="Orphanet:2405", source="Orphanet:2405/attributed", source="Orphanet:2405/ntbt"}
xref: MEDGEN:343676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:128980 {source="MONDO:equivalentTo", source="Orphanet:2405", source="Orphanet:2405/e"}
xref: Orphanet:2405 {source="OMIM:128980", source="MONDO:equivalentTo"}
xref: SCTID:722476007 {source="MONDO:equivalentTo"}
xref: UMLS:C1851896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343676"}
is_a: MONDO:0003847 {source="Orphanet:2405/inferred"} ! hereditary disease

[Term]
id: MONDO:0007505
name: earring holes, natural
synonym: "earlobe sinuses" RELATED [OMIM:129000]
synonym: "earring holes, natural" EXACT [OMIM:129000]
xref: MEDGEN:338809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:129000 {source="MONDO:equivalentTo"}
xref: UMLS:C1851895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338809"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007506
name: obsoleted echo virus 11 sensitivity
synonym: "E11S" RELATED ABBREVIATION [MESH:C565071, MONDO:Lexical, OMIM:129150]
synonym: "echo virus 11 sensitivity" EXACT [MONDO:Lexical, OMIM:129150]
xref: MESH:C565071 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:129150 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0005740

[Term]
id: MONDO:0007507
name: absence of fingerprints-congenital milia syndrome
def: "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait." [Orphanet:1658]
subset: gard_rare {source="GARD:2336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1658"}
subset: orphanet_rare {source="Orphanet:1658"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absence of dermatoglyphics congenital milia" RELATED [GARD:0002336]
synonym: "absence of dermatoglyphics-congenital milia syndrome" EXACT [Orphanet:1658]
synonym: "absence of fingerprints congenital milia" RELATED [GARD:0002336]
synonym: "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities" RELATED [GARD:0002336, OMIM:129200]
synonym: "Baird syndrome" EXACT [GARD:0002336, Orphanet:1658]
synonym: "Basan syndrome" RELATED [GARD:0002336, OMIM:129200]
synonym: "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease" RELATED [OMIM:129200]
xref: DOID:0080725 {source="MONDO:equivalentTo"}
xref: GARD:2336 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1658/attributed", source="Orphanet:1658/ntbt", source="Orphanet:1658"}
xref: MEDGEN:140808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537659 {source="MONDO:equivalentTo"}
xref: OMIM:129200 {source="Orphanet:1658/e", source="MONDO:equivalentTo", source="Orphanet:1658"}
xref: Orphanet:1235 {source="OMIM:129200"}
xref: Orphanet:1658 {source="OMIM:129200", source="GARD:0002336", source="MONDO:equivalentTo"}
xref: SCTID:239011004 {source="MONDO:equivalentTo"}
xref: UMLS:C0406707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140808"}
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18398 {source="MONDO:mim2gene_medgen"} ! SMARCAD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia" xsd:anyURI {source="GARD:0002336"}

[Term]
id: MONDO:0007508
name: Rapp-Hodgkin syndrome
def: "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate." [https://orcid.org/0000-0002-6601-2165, https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome]
comment: Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum {source="GARD:0005690"}
subset: gard_rare {source="GARD:5690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
subset: speculative
synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [DOID:0060330]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 8" RELATED [OMIM:129400]
synonym: "ectodermal dysplasia, anhidrotic, with cleft lip-palate" RELATED [MESH:C535289]
synonym: "ectodermal dysplasia, anhidrotic, with cleft Lip/palate" RELATED [OMIM:129400]
synonym: "OFC8, included" RELATED [MESH:C535289]
synonym: "orofacial cleft 8" RELATED [OMIM:129400]
synonym: "Rapp-Hodgkin ectodermal dysplasia syndrome" RELATED [GARD:0005690]
synonym: "Rapp-Hodgkin syndrome" EXACT [MONDO:Lexical, OMIM:129400]
synonym: "RHS" RELATED ABBREVIATION [MESH:C535289, MONDO:Lexical, OMIM:129400]
xref: DOID:0060330 {source="MONDO:equivalentTo"}
xref: GARD:5690 {source="MONDO:GARD"}
xref: MEDGEN:315656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535289 {source="MONDO:equivalentTo"}
xref: OMIM:129400 {source="DOID:0060330", source="MONDO:equivalentTo", source="MEDIC:C535289"}
xref: Orphanet:1991 {source="OMIM:129400", source="MONDO:relatedTo"}
xref: Orphanet:3022 {source="DOID:0060330", source="OMIM:129400", source="MONDO:equivalentObsolete"}
xref: SCTID:7731005 {source="MONDO:equivalentTo"}
xref: UMLS:C1785148 {source="MEDGEN:315656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="DC-OMIM:129400", source="OMIM:129400"} ! orofacial cleft
is_a: MONDO:0000426 {source="DOID:0060330", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0004747 {source="MESH:C535289"} ! cleft lip
is_a: MONDO:0016064 {source="MESH:C535289"} ! cleft palate
is_a: MONDO:0019287 {source="MESH:C535289"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:129400"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome" xsd:anyURI {source="GARD:0005690"}

[Term]
id: MONDO:0007509
name: ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
subset: gard_rare {source="GARD:18591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ECTD10A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:129490]
synonym: "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129490]
synonym: "ectodermal dysplasia hypohidrotic autosomal dominant" RELATED [GARD:0002048]
synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:129490]
synonym: "hypohidrotic ectodermal dysplasia autosomal dominant" RELATED [GARD:0002048]
xref: DOID:0111663 {source="MONDO:equivalentTo"}
xref: GARD:18591 {source="MONDO:GARD"}
xref: MEDGEN:854747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:129490 {source="MONDO:equivalentTo"}
xref: Orphanet:1810 {source="OMIM:129490"}
xref: Orphanet:238468 {source="OMIM:129490"}
xref: UMLS:C3888065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854747"}
is_a: MONDO:0015884 {source="Orphanet:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia
is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:129490"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0007510
name: Clouston syndrome
def: "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." [Orphanet:189]
subset: clingen {source="MONDO:CLINGEN"}
subset: do_inheritance_inconsistent
subset: gard_rare {source="GARD:2056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:189"}
subset: orphanet_rare {source="Orphanet:189"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia, dysplastic nails, palmar and plantar hyperkeratosis" RELATED [GARD:0004253]
synonym: "autosomal dominant hidrotic ectodermal dysplasia" RELATED [GARD:0002056]
synonym: "Clouston hidrotic ectodermal dysplasia" RELATED [OMIM:129500]
synonym: "Clouston syndrome" EXACT CLINGEN_LABEL [OMIM:129500, Orphanet:189]
synonym: "Clouston's hidrotic ectodermal dysplasia" EXACT [DOID:14693]
synonym: "Clouston's syndrome" EXACT [DOID:14693]
synonym: "ectodermal dysplasia 2, Clouston type" RELATED [OMIM:129500]
synonym: "ectodermal dysplasia, hidrotic" RELATED [GARD:0002056]
synonym: "ectodermal dysplasia, hidrotic, 2" RELATED [OMIM:129500]
synonym: "ectodermal dysplasia, hidrotic, 2, formerly" RELATED [OMIM:129500]
synonym: "ectodermal dysplasia, hidrotic, autosomal dominant" RELATED [OMIM:129500]
synonym: "ED2" RELATED ABBREVIATION [GARD:0002056]
synonym: "hidrotic ectodermal dysplasia" EXACT [DOID:14693, Orphanet:189]
synonym: "hidrotic ectodermal dysplasia syndrome" EXACT [DOID:14693]
synonym: "hidrotic ectodermal dysplasia, autosomal dominant" RELATED [GARD:0002056]
synonym: "palmoplantar hyperkeratosis and alopecia" RELATED [GARD:0004253]
synonym: "Patel Bixler syndrome" RELATED [GARD:0004253]
xref: DOID:14693 {source="MONDO:equivalentTo"}
xref: GARD:2056 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:189/attributed", source="Orphanet:189/ntbt", source="Orphanet:189"}
xref: MEDGEN:56416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004476 {source="DOID:14693"}
xref: OMIM:129500 {source="Orphanet:189/e", source="MONDO:equivalentTo", source="DOID:14693", source="GARD:0004253", source="Orphanet:189"}
xref: Orphanet:189 {source="OMIM:129500", source="MONDO:equivalentTo"}
xref: SCTID:54209007 {source="MONDO:equivalentTo", source="DOID:14693"}
xref: UMLS:C0162361 {source="MEDGEN:56416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="OMIM:129500", source="Orphanet:189"} ! ectodermal dysplasia syndrome
relationship: disease_has_basis_in_disruption_of GO:0005243 {source="https://ghr.nlm.nih.gov/condition/clouston-syndrome#genes"} ! gap junction channel activity
relationship: disease_has_feature HP:0007447 ! Diffuse palmoplantar hyperkeratosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 {source="MONDO:mim2gene_medgen"} ! GJB6

[Term]
id: MONDO:0007511
name: ectodermal dysplasia, trichoodontoonychial type
def: "Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996." [Orphanet:1818]
subset: gard_rare {source="GARD:2055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1818"}
subset: ordo_malformation_syndrome {source="Orphanet:1818"}
subset: orphanet_rare {source="Orphanet:1818"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia trichoodontoonychial type" RELATED [GARD:0002055]
synonym: "ectodermal dysplasia, trichoodontoonychial type" EXACT [OMIM:129510]
xref: GARD:2055 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1818", source="Orphanet:1818/attributed", source="Orphanet:1818/ntbt"}
xref: MEDGEN:338798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565068 {source="MONDO:equivalentTo"}
xref: OMIM:129510 {source="Orphanet:1818", source="MONDO:equivalentTo", source="Orphanet:1818/e"}
xref: Orphanet:1818 {source="OMIM:129510", source="MONDO:equivalentTo"}
xref: SCTID:734018003 {source="MONDO:equivalentTo"}
xref: UMLS:C1851858 {source="MEDGEN:338798", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C565068", source="Orphanet:1818"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type" xsd:anyURI {source="GARD:0002055"}

[Term]
id: MONDO:0007512
name: ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
synonym: "ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet" EXACT [OMIM:129540]
xref: MEDGEN:342107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565067 {source="MONDO:equivalentTo"}
xref: OMIM:129540 {source="MONDO:equivalentTo"}
xref: UMLS:C1851851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342107"}
is_a: MONDO:0003847 {source="MESH:C565067/inferred"} ! hereditary disease

[Term]
id: MONDO:0007513
name: ectodermal dysplasia with adrenal cyst
synonym: "ectodermal dysplasia with adrenal cyst" EXACT [OMIM:129550]
synonym: "Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome" EXACT [Orphanet:3391]
xref: MEDGEN:342106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538015 {source="MONDO:equivalentTo"}
xref: OMIM:129550 {source="MONDO:equivalentTo"}
xref: Orphanet:3391 {source="MONDO:equivalentObsolete", source="OMIM:129550"}
xref: UMLS:C1851850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342106"}
is_a: MONDO:0003847 {source="MESH:C538015/inferred"} ! hereditary disease

[Term]
id: MONDO:0007514
name: ectopia lentis 1, isolated, autosomal dominant
def: "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15062", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant isolated ectopia lentis 1" RELATED [DOID:0111150]
synonym: "ECTOL1" EXACT ABBREVIATION [DOID:0111150, MONDO:Lexical, OMIM:129600]
synonym: "ectopia lentis 1, isolated, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129600]
synonym: "ectopia lentis, familial" EXACT [OMIM:129600, OMIM:genemap2]
synonym: "FBN1 isolated ectopia lentis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated ectopia lentis caused by mutation in FBN1" EXACT [MONDO:design_pattern]
xref: DOID:0111150 {source="MONDO:equivalentTo"}
xref: GARD:15062 {source="MONDO:GARD"}
xref: MEDGEN:762106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:129600 {source="MONDO:equivalentTo", source="DOID:0111150"}
xref: Orphanet:1885 {source="OMIM:129600"}
xref: UMLS:C3541518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762106"}
is_a: MONDO:0015998 {source="DC-OMIM:129600", source="DOID:0111150", source="MONDO:Redundant", source="OMIM:129600"} ! isolated ectopia lentis
intersection_of: MONDO:0015998 ! isolated ectopia lentis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 ! FBN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007515
name: ectopia pupillae
synonym: "congenital eye malformation in which the pupils are displaced from their normal central position" RELATED [GARD:0008490]
synonym: "ectopia pupillae" EXACT [MONDO:ambiguous, OMIM:129750]
synonym: "ectopia pupillae (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "familial ectopic pupil" RELATED [GARD:0008490]
xref: HP:0009918 {source="MONDO:otherHierarchy"}
xref: MEDGEN:224790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536185 {source="MONDO:equivalentTo"}
xref: OMIM:129750 {source="MONDO:equivalentTo"}
xref: SCTID:193523008 {source="MONDO:equivalentTo"}
xref: UMLS:C1271219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224790"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "ectopia pupillae (disease)" xsd:string

[Term]
id: MONDO:0007516
name: ectrodactyly and ectodermal dysplasia without cleft lip/palate
synonym: "ectrodactyly and ectodermal dysplasia without cleft lip/palate" EXACT [OMIM:129810]
synonym: "ectrodactyly-ectodermal dysplasia without clefting syndrome" EXACT [Orphanet:1888]
synonym: "EEC syndrome without cleft Lip/palate" RELATED [OMIM:129810]
xref: MEDGEN:377536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565065 {source="MONDO:equivalentTo"}
xref: OMIM:129810 {source="MONDO:equivalentTo"}
xref: Orphanet:1888 {source="MONDO:equivalentObsolete", source="OMIM:129810"}
xref: UMLS:C1851849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377536"}
is_a: MONDO:0003847 {source="MESH:C565065/inferred"} ! hereditary disease

[Term]
id: MONDO:0007517
name: ectrodactyly-cleft palate syndrome
synonym: "Ecp syndrome" RELATED [OMIM:129830]
synonym: "ectrodactyly-cleft palate syndrome" EXACT [OMIM:129830]
xref: MEDGEN:342105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565064 {source="MONDO:equivalentTo"}
xref: OMIM:129830 {source="MONDO:equivalentTo"}
xref: Orphanet:1889 {source="MONDO:equivalentObsolete", source="OMIM:129830"}
xref: UMLS:C1851848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342105"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007518
name: edema, familial idiopathic, prepubertal
synonym: "edema, familial idiopathic, prepubertal" EXACT [OMIM:129840]
xref: MEDGEN:377535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565063 {source="MONDO:equivalentTo"}
xref: OMIM:129840 {source="MONDO:equivalentTo"}
xref: UMLS:C1851847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377535"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0007519
name: Edinburgh malformation syndrome
def: "Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991." [Orphanet:1895]
subset: gard_rare {source="GARD:2074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1895"}
subset: ordo_malformation_syndrome {source="Orphanet:1895"}
subset: orphanet_rare {source="Orphanet:1895"}
subset: rare
synonym: "Edinburgh malformation syndrome" EXACT [OMIM:129850]
synonym: "typus Edinburgensis" EXACT [Orphanet:1895]
xref: GARD:2074 {source="MONDO:GARD"}
xref: ICD10CM:Q95.2 {source="Orphanet:1895/attributed", source="Orphanet:1895/ntbt", source="Orphanet:1895"}
xref: MEDGEN:167084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563051 {source="MONDO:equivalentTo"}
xref: OMIM:129850 {source="Orphanet:1895", source="MONDO:equivalentTo", source="Orphanet:1895/e"}
xref: Orphanet:1895 {source="OMIM:129850", source="MONDO:equivalentTo"}
xref: UMLS:C0795933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167084"}
is_a: MONDO:0021147 {source="Orphanet:1895", source="Orphanet:1895/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0043009 {source="Orphanet:1895"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome" xsd:anyURI {source="GARD:0002074"}

[Term]
id: MONDO:0007520
name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
def: "An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3." [DOID:0060784, PMID:1424230, PMID:5454938]
subset: gard_rare {source="GARD:15063", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1" EXACT [DOID:0060784, MONDORULE:1]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1" RELATED [MONDO:Lexical, OMIM:129900]
synonym: "EEC" RELATED ABBREVIATION [OMIM:129900]
synonym: "EEC syndrome 1" EXACT [DOID:0060784, OMIM:129900]
synonym: "EEC syndrome-1" EXACT [OMIM:129900, OMIM:genemap2]
synonym: "EEC1" EXACT ABBREVIATION [DOID:0060784, MONDO:Lexical, OMIM:129900]
xref: DOID:0060784 {source="MONDO:equivalentTo"}
xref: GARD:15063 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="DOID:0060784"}
xref: MEDGEN:343663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565062 {source="MONDO:equivalentTo"}
xref: OMIM:129900 {source="DOID:0060784", source="MONDO:equivalentTo"}
xref: Orphanet:1896 {source="DOID:0060784", source="OMIM:129900"}
xref: UMLS:C1851841 {source="MONDO:equivalentTo", source="MEDGEN:343663", source="MONDO:MEDGEN"}
is_a: MONDO:0010004 {source="DC-OMIM:129900", source="DOID:0060784"} ! EEC syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:129900"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007521
name: obsolete egasyn
comment: This is a gene, not a disease.
synonym: "egasyn" EXACT [OMIM:129905]
synonym: "esterase 22" RELATED [OMIM:129905]
xref: OMIM:129905 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007522
name: Ehlers-Danlos syndrome, classic type
def: "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." [Orphanet:287]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2088", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:287"}
subset: orphanet_rare {source="Orphanet:287"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic Ehlers-Danlos syndrome" RELATED [GARD:0002088]
synonym: "classical Ehlers-Danlos syndrome" RELATED [GARD:0002088]
synonym: "EDS I" RELATED DEPRECATED [OMIM:130000]
synonym: "EDS I, formerly" RELATED [OMIM:130000]
synonym: "EDS II" RELATED DEPRECATED [OMIM:130000]
synonym: "EDS II, formerly" RELATED [OMIM:130000]
synonym: "EDS, classic type" EXACT [Orphanet:287]
synonym: "Ehlers Danlos syndrome, mild classic type" RELATED [OMIM:130000]
synonym: "Ehlers Danlos syndrome, mild classic type, formerly" RELATED [OMIM:130000]
synonym: "Ehlers Danlos syndrome, mitis type" RELATED [OMIM:130000]
synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome classic type" EXACT []
synonym: "Ehlers-Danlos syndrome classical type" RELATED []
synonym: "Ehlers-Danlos syndrome type 1 (formerly)" RELATED DEPRECATED [GARD:0002088]
synonym: "Ehlers-Danlos syndrome type 2" RELATED DEPRECATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome type 2 (formerly)" RELATED DEPRECATED [GARD:0002088]
synonym: "Ehlers-Danlos syndrome, classic type" EXACT CLINGEN_LABEL [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, gravis type" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, gravis type, formerly" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, severe classic type" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, severe classic type, formerly" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type I" RELATED DEPRECATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type I, formerly" RELATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type II" RELATED DEPRECATED [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type II, formerly" RELATED [OMIM:130000]
xref: GARD:2088 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:287/attributed", source="Orphanet:287/ntbt", source="Orphanet:287"}
xref: MEDGEN:909864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200646 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201256 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:287 {source="MONDO:equivalentTo", source="OMIM:130000"}
xref: Orphanet:90309 {source="OMIM:130000"}
xref: SCTID:715318006 {source="MONDO:equivalentTo"}
xref: UMLS:C4225429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909864"}
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:0007522/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0020066 {source="DC-OMIM:130000", source="OMIM:130000", source="Orphanet:287"} ! Ehlers-Danlos syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:130000", source="Orphanet:287"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0007523
name: Ehlers-Danlos syndrome, hypermobility type
def: "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." [Orphanet:285]
subset: gard_rare {source="GARD:2081", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:285"}
subset: orphanet_rare {source="Orphanet:285"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign hypermobility syndrome" RELATED [OMIM:130020]
synonym: "benign joint hypermobility syndrome" EXACT [Orphanet:285]
synonym: "BJHS" EXACT ABBREVIATION [Orphanet:285]
synonym: "EDS 3" RELATED [OMIM:130020]
synonym: "EDS III" EXACT [Orphanet:285]
synonym: "EDS3 (formerly)" RELATED DEPRECATED [GARD:0002081]
synonym: "EDSHMB" EXACT ABBREVIATION [OMIM:130020]
synonym: "Ehlers-Danlos syndrome type 3" EXACT [Orphanet:285]
synonym: "Ehlers-Danlos syndrome type 3 (formerly)" EXACT [GARD:0002081]
synonym: "Ehlers-Danlos syndrome, hypermobile type" EXACT [Orphanet:285]
synonym: "Ehlers-Danlos syndrome, hypermobility type" EXACT [OMIM:130020]
synonym: "Ehlers-Danlos syndrome, type 3" EXACT [OMIM:130020]
synonym: "Ehlers-Danlos syndrome, type III" EXACT [NCIT:C125698]
synonym: "hEDS" RELATED [GARD:0002081]
synonym: "HT-EDS" EXACT [Orphanet:285]
synonym: "hypermobile EDS" RELATED [GARD:0002081]
synonym: "hypermobile Ehlers-Danlos syndrome" RELATED [GARD:0002081]
xref: DOID:14757 {source="MONDO:equivalentTo"}
xref: GARD:2081 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:285", source="Orphanet:285/attributed", source="Orphanet:285/ntbt"}
xref: MEDGEN:75670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536196 {source="DOID:14757", source="MONDO:equivalentTo"}
xref: NANDO:1200647 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201257 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125698 {source="MONDO:equivalentTo"}
xref: OMIM:130020 {source="DOID:14757", source="Orphanet:285/e", source="MONDO:equivalentTo", source="Orphanet:285"}
xref: Orphanet:285 {source="MONDO:equivalentTo", source="OMIM:130020"}
xref: SCTID:30652003 {source="DOID:14757", source="MONDO:equivalentTo"}
xref: UMLS:C0268337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75670"}
is_a: MONDO:0020066 {source="DC-OMIM:130020", source="DOID:14757", source="MESH:C536196", source="NCIT:C125698", source="OMIM:130020", source="Orphanet:285"} ! Ehlers-Danlos syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2201 {source="MONDO:mim2gene_medgen"} ! COL3A1

[Term]
id: MONDO:0007524
name: autosomal dominant Ehlers-Danlos syndrome, vascular type
def: "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." [https://www.ncbi.nlm.nih.gov/books/NBK1494/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069/​, MONDO:pr]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant Ehlers-Danlos syndrome, vascular type" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant type IV Ehlers-Danlos syndrome" RELATED [DOID:14756]
synonym: "EDS 4" BROAD [OMIM:130050]
synonym: "EDSVASC" RELATED ABBREVIATION [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, arterial type" RELATED [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, Ecchymotic type" RELATED [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, sack-Barabas type" RELATED [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, type IV, autosomal dominant" EXACT [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, vascular type" BROAD [OMIM:130050]
synonym: "Ehlers-Danlos syndrome, vascular type, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:14756 {source="MONDO:equivalentTo"}
xref: MEDGEN:541286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:130050 {source="DOID:14756", source="MONDO:equivalentTo"}
xref: Orphanet:286 {source="OMIM:130050"}
xref: UMLS:C0268339 {source="MEDGEN:541286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017314 {source="MONDO:Redundant", source="MONDO:pr", source="Orphanet:286"} ! Ehlers-Danlos syndrome, vascular type
intersection_of: MONDO:0017314 ! Ehlers-Danlos syndrome, vascular type
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2201 {source="MONDO:mim2gene_medgen"} ! COL3A1

[Term]
id: MONDO:0007525
name: Ehlers-Danlos syndrome, arthrochalasia type
def: "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." [GARD:0002084]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2084", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1899"}
subset: orphanet_rare {source="Orphanet:1899"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AEDS" RELATED ABBREVIATION [GARD:0002084]
synonym: "arthrochalasia EDS" RELATED [GARD:0002084]
synonym: "arthrochalasia Ehlers-Danlos syndrome" RELATED [GARD:0002084]
synonym: "arthrochalasis multiplex congenita" RELATED [GARD:0002084, MESH:C562625, OMIM:130060]
synonym: "EDS 7A" NARROW [OMIM:130060]
synonym: "EDS 7B" NARROW [OMIM:130060]
synonym: "EDS VII" EXACT [Orphanet:1899]
synonym: "EDS VII, mutant procollagen type" RELATED [OMIM:130060]
synonym: "EDS7A (formerly)" RELATED DEPRECATED [GARD:0002084]
synonym: "EDSARTH1" RELATED ABBREVIATION [OMIM:130060]
synonym: "Ehlers-Danlos syndrome type 7" EXACT [Orphanet:1899]
synonym: "Ehlers-Danlos syndrome type 7A (formerly)" RELATED DEPRECATED [GARD:0002084]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type" EXACT [GARD:0002084, MESH:C562625, OMIM:130060, Orphanet:1899]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 1" RELATED [OMIM:130060]
synonym: "Ehlers-Danlos syndrome, type VII" EXACT [NCIT:C125701]
synonym: "Ehlers-Danlos syndrome, type VII, autosomal dominant" RELATED [OMIM:130060]
synonym: "Ehlers-Danlos syndrome, type VIIA, autosomal dominant" RELATED [OMIM:130060]
xref: DOID:0080727 {source="MONDO:equivalentTo"}
xref: GARD:2084 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:1899", source="Orphanet:1899/attributed", source="Orphanet:1899/ntbt"}
xref: MEDGEN:1645042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562625 {source="MONDO:equivalentTo"}
xref: NANDO:1200650 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201260 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125701 {source="MONDO:equivalentTo"}
xref: OMIM:130060 {source="MONDO:equivalentTo", source="Orphanet:1899", source="GARD:0002084", source="Orphanet:1899/e"}
xref: Orphanet:1899 {source="OMIM:130060", source="MONDO:equivalentTo", source="GARD:0002084"}
xref: Orphanet:99875 {source="OMIM:130060"}
xref: Orphanet:99876 {source="OMIM:130060"}
xref: SCTID:4170004 {source="MONDO:equivalentTo"}
xref: UMLS:C4551623 {source="MEDGEN:1645042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020066 {source="DC-OMIM:130060", source="MESH:C562625", source="NCIT:C125701", source="OMIM:130060", source="Orphanet:1899"} ! Ehlers-Danlos syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome" xsd:anyURI {source="GARD:0002084"}

[Term]
id: MONDO:0007526
name: Ehlers-Danlos syndrome, spondylodysplastic type
def: "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." [Orphanet:75496]
subset: gard_rare {source="GARD:9991", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:75496"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B4GALT7-CDG" EXACT [Orphanet:75496]
synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [DOID:0050802, Orphanet:75496]
synonym: "defective biosynthesis of proteodermatan sulphate" EXACT OMO:0003005 []
synonym: "dermatan sulfate proteoglycan" NARROW [OMIM:130070]
synonym: "dermatan sulphate proteoglycan" NARROW OMO:0003005 []
synonym: "EDS, progeroid type" EXACT [Orphanet:75496]
synonym: "EDSSPD1" NARROW ABBREVIATION [OMIM:130070]
synonym: "Ehlers-Danlos syndrome progeroid type" EXACT [Orphanet:75496]
synonym: "Ehlers-Danlos syndrome with short stature and limb anomalies" NARROW [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, progeroid type" RELATED [Orphanet:75496]
synonym: "Ehlers-Danlos syndrome, progeroid type (former)" RELATED [GARD:0009991]
synonym: "Ehlers-Danlos syndrome, progeroid type, 2" NARROW EXCLUDE [DOID:0050802]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1" NARROW [OMIM:130070]
synonym: "galactosyltransferase 1 deficiency" NARROW [OMIM:130070]
synonym: "galactosyltransferase I deficiency" EXACT [Orphanet:75496]
synonym: "PDS" EXACT ABBREVIATION [Orphanet:75496]
synonym: "Pds, defective biosynthesis of" NARROW [OMIM:130070]
synonym: "proteodermatan sulfate, defective biosynthesis of" NARROW [OMIM:130070]
synonym: "spondylodysplastic Ehlers-Danlos syndrome" RELATED [GARD:0009991]
synonym: "XGPT deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496]
synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496]
xref: DOID:0050802 {source="MONDO:equivalentTo"}
xref: GARD:9991 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:75496/attributed", source="Orphanet:75496/ntbt", source="Orphanet:75496"}
xref: MESH:C536201 {source="Orphanet:75496/e", source="MONDO:equivalentTo", source="DOID:0050802", source="Orphanet:75496"}
xref: Orphanet:75496 {source="OMIM:130070", source="MONDO:equivalentTo", source="DOID:0050802"}
xref: SCTID:720861000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0020066 {source="DC-OMIM:130070", source="DOID:0050802", source="MESH:C536201", source="OMIM:130070", source="Orphanet:75496"} ! Ehlers-Danlos syndrome
relationship: disease_has_feature HP:0004349 {source="Orphanet:75496"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:75496", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0007527
name: Ehlers-Danlos syndrome, periodontitis type
def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." [Orphanet:75392]
subset: gard_rare {source="GARD:12474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75392"}
subset: orphanet_rare {source="Orphanet:75392"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS 8" RELATED [OMIM:130080]
synonym: "EDS VIII" EXACT [Orphanet:75392]
synonym: "EDS VIII (formerly)" RELATED [GARD:0012474]
synonym: "EDS8" RELATED ABBREVIATION [OMIM:130080]
synonym: "EDS8 (formerly)" RELATED [GARD:0012474]
synonym: "Ehlers-Danlos syndrome type 8" EXACT [Orphanet:75392]
synonym: "Ehlers-Danlos syndrome type 8 (formerly)" RELATED [GARD:0012474]
synonym: "Ehlers-Danlos syndrome, periodontitis type" EXACT [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, type 8" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, type VIII" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, type VIII (formerly)" RELATED [GARD:0012474]
synonym: "pEDS" RELATED [GARD:0012474]
synonym: "periodontal EDS" RELATED [GARD:0012474]
synonym: "periodontal Ehlers-Danlos syndrome" RELATED [GARD:0012474]
xref: GARD:12474 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:75392/attributed", source="Orphanet:75392/ntbt", source="Orphanet:75392"}
xref: MEDGEN:82791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562626 {source="MONDO:equivalentTo"}
xref: Orphanet:75392 {source="OMIM:130080", source="MONDO:equivalentTo"}
xref: SCTID:50869007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82791"}
is_a: MONDO:0020066 {source="DC-OMIM:130080", source="MESH:C562626", source="OMIM:130080", source="Orphanet:75392"} ! Ehlers-Danlos syndrome

[Term]
id: MONDO:0007528
name: Ehlers-Danlos syndrome, autosomal dominant, type unspecified
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EDS, unspecified type" RELATED [OMIM:130090]
synonym: "Ehlers-Danlos syndrome, autosomal dominant, type unspecified" EXACT [OMIM:130090]
synonym: "Ehlers-Danlos syndrome, Friedman-Harrod type" RELATED [OMIM:130090]
xref: MEDGEN:65083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562424 {source="MONDO:equivalentTo"}
xref: OMIM:130090 {source="MONDO:equivalentTo"}
xref: UMLS:C0220679 {source="MEDGEN:65083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020066 {source="MESH:C562424"} ! Ehlers-Danlos syndrome

[Term]
id: MONDO:0007529
name: elastosis perforans serpiginosa
comment: Editor note: currently treat this as genetic, see https://github.com/Orphanet/ORDO/issues/3. Consider adding AD
subset: gard_rare {source="GARD:10103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79148"}
subset: orphanet_rare {source="Orphanet:79148"}
subset: rare
synonym: "elastoma Intrapapillare perforans verruciformis" RELATED [OMIM:130100]
synonym: "elastosis perforans serpiginosa" EXACT [MONDO:Lexical, OMIM:130100]
synonym: "eps" RELATED [MONDO:Lexical, OMIM:130100]
synonym: "Miescher elastoma" RELATED [OMIM:130100]
xref: GARD:10103 {source="MONDO:GARD"}
xref: ICD10CM:L87.2 {source="MONDO:equivalentTo", source="Orphanet:79148/ntbt", source="Orphanet:79148"}
xref: MedDRA:10014338 {source="Orphanet:79148/e", source="Orphanet:79148"}
xref: MEDGEN:65137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536202 {source="Orphanet:79148/e", source="MONDO:equivalentTo", source="Orphanet:79148"}
xref: OMIM:130100 {source="Orphanet:79148/e", source="MONDO:equivalentTo", source="Orphanet:79148"}
xref: Orphanet:79148 {source="MONDO:equivalentTo", source="OMIM:130100"}
xref: SCTID:49428008 {source="MONDO:equivalentTo"}
xref: UMLS:C0221271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65137"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
relationship: excluded_subClassOf MONDO:0016436 {source="Orphanet:79148", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acquired dermis elastic tissue disorder with increased elastic tissue
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa" xsd:anyURI {source="GARD:0010103"}

[Term]
id: MONDO:0007530
name: electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
synonym: "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" EXACT [OMIM:130200]
xref: MEDGEN:377516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:130200 {source="MONDO:equivalentTo"}
xref: UMLS:C1851757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377516"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007531
name: electroencephalographic peculiarity: fronto-precentral beta wave groups
synonym: "electroencephalographic peculiarity: fronto-precentral beta wave groups" EXACT [OMIM:130300]
xref: MEDGEN:343646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:130300 {source="MONDO:equivalentTo"}
xref: UMLS:C1851756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343646"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007532
name: obsolete Electroencephalographic peculiarity: occipital slow beta waves
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "Electroencephalographic peculiarity: occipital slow beta waves" EXACT [OMIM:130400]
xref: OMIM:130400 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007533
name: elliptocytosis 2
def: "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130600]
synonym: "elliptocytosis 2" EXACT [MONDO:Lexical, OMIM:130600]
synonym: "elliptocytosis type 2" EXACT [MONDORULE:1, OMIM:130600]
synonym: "elliptocytosis, Rhesus-unlinked type" RELATED [OMIM:130600]
synonym: "elliptocytosis-2" EXACT [OMIM:130600, OMIM:genemap2]
synonym: "hereditary elliptocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern]
synonym: "SPTA1 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15064 {source="MONDO:GARD"}
xref: MEDGEN:343643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565058 {source="MONDO:equivalentTo"}
xref: OMIM:130600 {source="MONDO:equivalentTo"}
xref: Orphanet:288 {source="OMIM:130600"}
xref: UMLS:C1851741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343643"}
is_a: MONDO:0017319 {source="DC-OMIM:130600", source="MESH:C565058", source="MONDO:Redundant"} ! hereditary elliptocytosis
intersection_of: MONDO:0017319 ! hereditary elliptocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 ! SPTA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 {source="MONDO:mim2gene_medgen"} ! SPTA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007534
name: Beckwith-Wiedemann syndrome
def: "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." [Orphanet:116]
subset: gard_rare {source="GARD:3343", source="MONDO:GARD"}
subset: nord_rare {source="NORD:845", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:116"}
subset: ordo_malformation_syndrome {source="Orphanet:116"}
subset: orphanet_rare {source="Orphanet:116"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beckwith-Wiedemann syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C34415, OMIM:130650]
synonym: "Beckwith-Wiedemann syndrome chromosome region" RELATED [OMIM:130650]
synonym: "BWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:130650, Orphanet:116]
synonym: "EMG syndrome" RELATED [OMIM:130650]
synonym: "exomphalos macroglossia gigantism syndrome" RELATED [GARD:0003343]
synonym: "exomphalos-macroglossia-gigantism syndrome" EXACT [OMIM:130650, Orphanet:116]
synonym: "Wiedemann-Beckwith syndrome" EXACT [OMIM:130650, Orphanet:116]
synonym: "Wiedemann-Beckwith syndrome (WBS)" RELATED [GARD:0003343]
xref: DOID:5572 {source="MONDO:equivalentTo"}
xref: GARD:3343 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:116/ntbt", source="Orphanet:116", source="Orphanet:116/inclusion", source="DOID:5572"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10050344 {source="Orphanet:116", source="Orphanet:116/e"}
xref: MEDGEN:2562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001506 {source="Orphanet:116", source="MONDO:equivalentTo", source="Orphanet:116/e", source="DOID:5572"}
xref: NANDO:2200959 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34415 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5572"}
xref: NORD:845 {source="MONDO:NORD"}
xref: OMIM:130650 {source="Orphanet:116", source="MONDO:equivalentTo", source="Orphanet:116/e", source="DOID:5572"}
xref: Orphanet:116 {source="MONDO:equivalentTo", source="OMIM:130650", source="DOID:5572"}
xref: SCTID:81780002 {source="MONDO:equivalentTo", source="DOID:5572"}
xref: UMLS:C0004903 {source="MEDGEN:2562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C34415", source="Orphanet:116/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0019716 {source="Orphanet:116"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0015496 {source="Orphanet:116", source="https://orcid.org/0000-0001-5208-3432"} ! macroglossia
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:116", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: excluded_subClassOf MONDO:0019721 {source="Orphanet:116", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic renal or urinary tract malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome" xsd:anyURI {source="GARD:0003343"}

[Term]
id: MONDO:0007535
name: emphysema, hereditary pulmonary
synonym: "emphysema, hereditary pulmonary" EXACT [OMIM:130700]
xref: MEDGEN:338765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565057 {source="MONDO:equivalentTo"}
xref: OMIM:130700 {source="MONDO:equivalentTo"}
xref: UMLS:C1851718 {source="MEDGEN:338765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004849 {source="MESH:C565057"} ! pulmonary emphysema

[Term]
id: MONDO:0007536
name: congenital lobar emphysema
def: "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." [Orphanet:1928]
subset: gard_rare {source="GARD:2104", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1085", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1928"}
subset: ordo_morphological_anomaly {source="Orphanet:1928"}
subset: orphanet_rare {source="Orphanet:1928"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:130710]
synonym: "congenital lobar hyperinflation" EXACT [Orphanet:1928]
synonym: "Emphysema, Congenital Lobar" EXACT [NORD:1085]
synonym: "emphysema, congenital lobar" EXACT [MONDO:Lexical, OMIM:130710]
synonym: "infantile lobar hyperinflation" EXACT [Orphanet:1928]
xref: GARD:2104 {source="MONDO:GARD"}
xref: ICD10CM:Q33.8 {source="Orphanet:1928", source="Orphanet:1928/attributed", source="Orphanet:1928/ntbt"}
xref: icd11.foundation:685349915 {source="Orphanet:1928", source="MONDO:equivalentTo"}
xref: MedDRA:10010456 {source="Orphanet:1928", source="Orphanet:1928/e"}
xref: MEDGEN:120557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535735 {source="Orphanet:1928", source="MONDO:equivalentTo", source="Orphanet:1928/e"}
xref: NCIT:C98895 {source="MONDO:equivalentTo"}
xref: NORD:1085 {source="MONDO:NORD"}
xref: OMIM:130710 {source="Orphanet:1928", source="MONDO:equivalentTo", source="Orphanet:1928/e"}
xref: Orphanet:1928 {source="MONDO:equivalentTo", source="OMIM:130710"}
xref: SCTID:66987001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120557"}
is_a: MONDO:0004849 {source="DC-OMIM:130710", source="MESH:C535735", source="MONDO:Redundant", source="NCIT:C98895"} ! pulmonary emphysema
is_a: MONDO:0005087 {source="Orphanet:1928", source="Orphanet:1928/inferred"} ! respiratory system disorder
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1928", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare

[Term]
id: MONDO:0007537
name: lateral meningocele syndrome
subset: gard_rare {source="GARD:9873", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2789"}
subset: ordo_malformation_syndrome {source="Orphanet:2789"}
subset: orphanet_rare {source="Orphanet:2789"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lateral meningocele syndrome" EXACT [MONDO:Lexical, OMIM:130720]
synonym: "Lehman syndrome" EXACT [OMIM:130720, Orphanet:2789]
synonym: "LMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130720]
synonym: "Lms" RELATED [OMIM:130720]
xref: DOID:0111343 {source="MONDO:equivalentTo"}
xref: GARD:9873 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2789", source="Orphanet:2789/attributed", source="Orphanet:2789/ntbt"}
xref: MEDGEN:342070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537878 {source="MONDO:equivalentTo"}
xref: OMIM:130720 {source="MONDO:equivalentTo", source="Orphanet:2789", source="Orphanet:2789/e"}
xref: Orphanet:2789 {source="MONDO:equivalentTo", source="OMIM:130720"}
xref: UMLS:C1851710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342070"}
is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 {source="MONDO:mim2gene_medgen"} ! NOTCH3

[Term]
id: MONDO:0007538
name: amelogenesis imperfecta, type 3A
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADHCAI" EXACT ABBREVIATION [DOID:0110055]
synonym: "AI3" EXACT ABBREVIATION [DOID:0110055, MONDO:Lexical, OMIM:130900]
synonym: "AI3A" RELATED ABBREVIATION [OMIM:130900]
synonym: "amelogenesis imperfecta caused by mutation in FAM83H" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomineralization type" BROAD [DOID:0110055]
synonym: "amelogenesis imperfecta type 3" BROAD [Orphanet:100032]
synonym: "amelogenesis imperfecta type 3A" RELATED [DOID:0110055]
synonym: "amelogenesis imperfecta type III" BROAD [DOID:0110055]
synonym: "amelogenesis imperfecta, hypocalcification type, autosomal dominant" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta, hypomineralization type" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta, type 3" RELATED [OMIM:130900]
synonym: "amelogenesis imperfecta, type 3A" EXACT [OMIM:130900]
synonym: "amelogenesis imperfecta, type III" RELATED [MONDO:Lexical, OMIM:130900]
synonym: "amelogenesis imperfecta, type IIIA" RELATED [OMIM:130900]
synonym: "autosomal dominant amelogenesis imperfecta hypocalcification type" EXACT [DOID:0110055]
synonym: "FAM83H amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110055 {source="MONDO:equivalentTo"}
xref: ICD10CM:K00.5 {source="Orphanet:100032", source="Orphanet:100032/attributed", source="Orphanet:100032/ntbt", source="DOID:0110055"}
xref: MESH:C562880 {source="MONDO:equivalentTo"}
xref: OMIM:130900 {source="Orphanet:100032", source="MONDO:equivalentTo", source="Orphanet:100032/e", source="DOID:0110055"}
xref: Orphanet:100032 {source="MONDO:mondoIsNarrowerThanSource", source="OMIM:130900"}
xref: SCTID:109471001 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="Orphanet:100032/inferred"} ! hereditary disease
is_a: MONDO:0019507 {source="DC-OMIM:130900", source="DOID:0110055", source="MESH:C562880", source="MONDO:Redundant", source="OMIM:130900", source="Orphanet:100032"} ! amelogenesis imperfecta
is_a: MONDO:0968955 {source="https://orcid.org/0000-0001-5493-2602"} ! hypocalcified amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24797 ! FAM83H
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24797 {source="MONDO:mim2gene_medgen"} ! FAM83H

[Term]
id: MONDO:0007539
name: encephalopathy, recurrent, of childhood
subset: gard_rare {source="GARD:3949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2672"}
subset: orphanet_rare {source="Orphanet:2672"}
subset: rare
synonym: "encephalopathy recurrent of childhood" EXACT [MONDO:0023065]
synonym: "encephalopathy, recurrent, of childhood" EXACT [OMIM:130950]
synonym: "Neuhauser Eichner Opitz syndrome" RELATED [GARD:0003949]
xref: GARD:3949 {source="MONDO:GARD"}
xref: MEDGEN:342069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536407 {source="MONDO:equivalentTo"}
xref: OMIM:130950 {source="MONDO:equivalentTo"}
xref: Orphanet:2672 {source="MONDO:equivalentTo", source="OMIM:130950"}
xref: UMLS:C1851708 {source="MEDGEN:342069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005560 {source="DC-OMIM:130950", source="MESH:C536407/inferred"} ! brain disorder
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood" xsd:anyURI {source="GARD:0002117"}

[Term]
id: MONDO:0007540
name: multiple endocrine neoplasia type 1
def: "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." [Orphanet:652]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1466"}
subset: ordo_disorder {source="Orphanet:652"}
subset: orphanet_rare {source="Orphanet:652"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endocrine adenomatosis multiple" RELATED [GARD:0003829]
synonym: "endocrine adenomatosis, multiple" RELATED [OMIM:131100]
synonym: "MEA 1" RELATED [OMIM:131100]
synonym: "MEA type 1" EXACT [NCIT:C3225]
synonym: "MEA type I" EXACT [NCIT:C3225]
synonym: "men 1" EXACT [NCIT:C3225]
synonym: "men type 1" EXACT [NCIT:C3225]
synonym: "men type I" EXACT [DOID:10017, NCIT:C3225]
synonym: "MEN1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:131100, Orphanet:652]
synonym: "MEN1 multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MEN1 somatic mutations" RELATED [OMIM:131100]
synonym: "MEN1 syndrome" EXACT [NCIT:C3225]
synonym: "multiple endocrine adenomatosis" BROAD [NCIT:C3225]
synonym: "multiple endocrine adenomatosis type 1" EXACT [NCIT:C3225]
synonym: "multiple endocrine adenomatosis type I" EXACT [NCIT:C3225]
synonym: "multiple endocrine adenomatosis, type I" EXACT [NCIT:C3225]
synonym: "multiple endocrine neoplasia 1" EXACT [OMIM:131100, OMIM:genemap2]
synonym: "multiple endocrine neoplasia caused by mutation in MEN1" EXACT [MONDO:design_pattern]
synonym: "multiple endocrine neoplasia type 1" EXACT CLINGEN_LABEL [DOID:10017, NCIT:C3225]
synonym: "multiple endocrine neoplasia type 1 syndrome" EXACT [NCIT:C3225]
synonym: "multiple endocrine neoplasia type I" EXACT [NCIT:C3225]
synonym: "multiple endocrine neoplasia, type 1" RELATED [OMIM:131100]
synonym: "multiple endocrine neoplasia, type I" EXACT [MONDO:Lexical, NCIT:C3225, OMIM:131100]
synonym: "Wermer syndrome" EXACT [DOID:10017, NCIT:C3225, OMIM:131100, Orphanet:652]
synonym: "Wermer's syndrome" EXACT [DOID:10017, NCIT:C3225]
xref: DOID:10017 {source="MONDO:equivalentTo"}
xref: GARD:3829 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="Orphanet:652/attributed", source="Orphanet:652/ntbt", source="Orphanet:652"}
xref: ICD10CM:E31.21 {source="DOID:10017"}
xref: ICD9:237.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:258.01 {source="DOID:10017", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10028190 {source="Orphanet:652/e", source="Orphanet:652"}
xref: MEDGEN:9957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018761 {source="DOID:10017", source="Orphanet:652/e", source="MONDO:equivalentTo", source="Orphanet:652"}
xref: NANDO:2200405 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3225 {source="DOID:10017", source="MONDO:equivalentTo"}
xref: NORD:1466 {source="MONDO:NORD"}
xref: OMIM:131100 {source="DOID:10017", source="Orphanet:652/e", source="MONDO:equivalentTo", source="Orphanet:652"}
xref: Orphanet:652 {source="DOID:10017", source="MONDO:equivalentTo", source="OMIM:131100"}
xref: SCTID:190566000 {source="DOID:10017"}
xref: SCTID:30664006 {source="DOID:10017", source="MONDO:equivalentTo"}
xref: UMLS:C0025267 {source="MEDGEN:9957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:10017", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0016365 {source="Orphanet:652"} ! familial primary hyperparathyroidism
is_a: MONDO:0017169 {source="DC-OMIM:131100", source="MONDO:Redundant", source="NCIT:C3225", source="OMIM:131100", source="Orphanet:652"} ! multiple endocrine neoplasia
is_a: MONDO:0021227 {source="Orphanet:652"} ! adrenal gland neoplasm
intersection_of: MONDO:0017169 ! multiple endocrine neoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7010 ! MEN1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:131100", source="Orphanet:652"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7010 {source="MONDO:mim2gene_medgen"} ! MEN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1" xsd:anyURI {source="GARD:0003829"}

[Term]
id: MONDO:0007541
name: endometriosis, susceptibility to, 1
subset: predisposition
synonym: "ENDO1" RELATED ABBREVIATION [OMIM:131200]
synonym: "endometriosis, susceptibility to, 1" EXACT [OMIM:131200]
synonym: "endometriosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:131200]
xref: MEDGEN:338749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:131200 {source="MONDO:equivalentTo"}
xref: UMLS:C1851649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338749"}
is_a: MONDO:0020573 {source="OMIM:131200"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005133 ! endometriosis

[Term]
id: MONDO:0007542
name: Camurati-Engelmann disease
def: "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." [https://github.com/monarch-initiative/monarch-disease-ontology/issues/399, Orphanet:1328]
subset: gard_rare {source="GARD:1072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:885"}
subset: ordo_disorder {source="Orphanet:1328"}
subset: ordo_malformation_syndrome {source="Orphanet:1328"}
subset: orphanet_rare {source="Orphanet:1328"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131300]
synonym: "Camurati-Engelmann disease" EXACT [MONDO:Lexical, OMIM:131300]
synonym: "Camurati-Engelmann syndrome" EXACT [NCIT:C84610]
synonym: "Camurati-Englemann disease" EXACT [NCIT:C84610]
synonym: "CED" RELATED ABBREVIATION [OMIM:131300]
synonym: "diaphyseal dysplasia" EXACT [DOID:4997]
synonym: "diaphyseal dysplasia 1, progressive" RELATED [OMIM:131300]
synonym: "DPD1" RELATED ABBREVIATION [GARD:0001072]
synonym: "Engelman's disease" EXACT [DOID:4997]
synonym: "Engelmann disease" RELATED [OMIM:131300]
synonym: "progressive diaphyseal dysplasia" EXACT [DOID:4997, OMIM:131300, Orphanet:1328]
xref: DOID:4997 {source="MONDO:equivalentTo"}
xref: GARD:1072 {source="MONDO:GARD"}
xref: ICD10CM:Q78.3 {source="Orphanet:1328/e", source="Orphanet:1328/specific", source="DOID:4997", source="Orphanet:1328"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003966 {source="Orphanet:1328/e", source="DOID:4997", source="Orphanet:1328"}
xref: NANDO:2200970 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84610 {source="MONDO:equivalentTo", source="DOID:4997"}
xref: NORD:885 {source="MONDO:NORD"}
xref: OMIM:131300 {source="Orphanet:1328/e", source="MONDO:equivalentTo", source="DOID:4997", source="Orphanet:1328"}
xref: Orphanet:1328 {source="MONDO:equivalentTo", source="OMIM:131300"}
xref: SCTID:205505000 {source="DOID:4997"}
xref: SCTID:240174009 {source="DOID:4997"}
xref: SCTID:318761000119105 {source="MONDO:equivalentTo", source="DOID:4997"}
xref: SCTID:34643004 {source="DOID:4997"}
xref: UMLS:C0011989 {source="MEDGEN:4268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84610"} ! syndromic disease
is_a: MONDO:0018230 {source="Orphanet:1328"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:1328"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0002933 {source="DOID:4997", source="https://orcid.org/0000-0001-5208-3432"} ! osteosclerosis
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:1328", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11766 {source="MONDO:mim2gene_medgen"} ! TGFB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007543
name: obsolete enolase, sperm specific
synonym: "ENO4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131375]
synonym: "enolase, sperm specific" EXACT [MONDO:Lexical, OMIM:131375]
xref: OMIM:131375 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6337" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007544
name: eosinophilia, familial
def: "Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors." [https://orcid.org/0000-0001-5208-3432, PMID:14176021]
synonym: "Eos" RELATED [OMIM:131400]
synonym: "eosinophilia, familial" EXACT [OMIM:131400]
synonym: "familial eosinophilia" RELATED [GARD:0010521]
xref: MEDGEN:78796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562722 {source="MONDO:equivalentTo"}
xref: OMIM:131400 {source="MONDO:equivalentTo"}
xref: SCTID:79336007 {source="MONDO:equivalentTo"}
xref: UMLS:C0272192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78796"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10521/familial-eosinophilia" xsd:anyURI {source="GARD:0010521"}

[Term]
id: MONDO:0007545
name: Eosinophilopenia
synonym: "eosinophil aplasia" RELATED [OMIM:131430]
synonym: "Eosinophilopenia" EXACT [OMIM:131430]
xref: MEDGEN:343610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:131430 {source="MONDO:equivalentTo"}
xref: UMLS:C1851586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343610"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007546
name: myeloproliferative disorder, chronic, with eosinophilia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "eosinophils, malignant proliferation of" RELATED [OMIM:131440]
synonym: "MPE" RELATED ABBREVIATION [OMIM:131440]
synonym: "myeloproliferative disorder with eosinophilia" EXACT [OMIM:131440, OMIM:genemap2]
synonym: "myeloproliferative disorder, chronic, with eosinophilia" EXACT [OMIM:131440]
xref: DOID:0111344 {source="MONDO:equivalentTo"}
xref: MEDGEN:377060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565054 {source="MONDO:equivalentTo"}
xref: OMIM:131440 {source="MONDO:equivalentTo"}
xref: Orphanet:86830 {source="OMIM:131440"}
xref: UMLS:C1851585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377060"}
is_a: MONDO:0019452 {source="Orphanet:86830/btnt"} ! myeloproliferative neoplasm, unclassifiable
is_a: MONDO:0020076 {source="MONDO:Redundant", source="MONDO:indirect"} ! myeloproliferative neoplasm
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007547
name: epidermoid cysts
def: "The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule." [NCIT:C3134]
synonym: "Epidermal cyst" EXACT [NCIT:C3134]
synonym: "epidermal inclusion cyst" EXACT [NCIT:C3134]
synonym: "epidermoid cyst" EXACT [NCIT:C3134]
synonym: "epidermoid cysts" EXACT [OMIM:131600]
synonym: "epithelial cyst" EXACT [NCIT:C3134]
synonym: "Follicular infundibular cyst" EXACT [NCIT:C3134]
synonym: "horn cyst" EXACT [NCIT:C3134]
synonym: "inclusion cyst" EXACT [NCIT:C3134]
synonym: "infundibular cyst" EXACT [NCIT:C3134]
synonym: "keratin cyst" EXACT [NCIT:C3134]
synonym: "keratinizing cyst" EXACT [NCIT:C3134]
synonym: "keratinous cyst" EXACT [NCIT:C3134]
synonym: "squamous cyst" EXACT [NCIT:C3134]
xref: MEDGEN:41829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004814 {source="MONDO:equivalentTo"}
xref: NCIT:C3134 {source="MONDO:equivalentTo"}
xref: OMIM:131600 {source="MONDO:equivalentTo"}
xref: SCTID:419893006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41829"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007548
name: transient bullous dermolysis of the newborn
def: "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." [Orphanet:79411]
subset: gard_rare {source="GARD:10010", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79411"}
subset: orphanet_rare {source="Orphanet:79411"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEB, bullous dermolysis of the newborn" EXACT [Orphanet:79411]
synonym: "DEB-BDN" EXACT [Orphanet:79411]
synonym: "dystrophic epidermolysis bullosa, neonatal" RELATED [OMIM:131705]
synonym: "epidermolysis bullosa dystrophica, dominant neonatal form" RELATED [GARD:0010010]
synonym: "epidermolysis bullosa dystrophica, neonatal form" RELATED [OMIM:131705]
synonym: "MONDON" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131705]
synonym: "TBDN" RELATED ABBREVIATION [GARD:0010010, OMIM:131705]
synonym: "transient bullous dermolysis of the newborn" EXACT [MONDO:Lexical, OMIM:131705]
synonym: "transient bullous of the newborn" EXACT [OMIM:131705, OMIM:genemap2]
xref: DOID:0111345 {source="MONDO:equivalentTo"}
xref: GARD:10010 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:79411/attributed", source="Orphanet:79411/ntbt", source="Orphanet:79411"}
xref: MEDGEN:343607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536979 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"}
xref: OMIM:131705 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"}
xref: Orphanet:79411 {source="OMIM:131705", source="MONDO:equivalentTo"}
xref: UMLS:C1851573 {source="MEDGEN:343607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006543 {source="Orphanet:79411"} ! epidermolysis bullosa dystrophica
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn" xsd:anyURI {source="GARD:0010010"}

[Term]
id: MONDO:0007549
name: generalized dominant dystrophic epidermolysis bullosa
def: "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." [Orphanet:231568]
subset: gard_rare {source="GARD:2139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231568"}
subset: orphanet_rare {source="Orphanet:231568"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Albopapuloid dominant dystrophic epidermolysis bullosa" RELATED [OMIM:131750]
synonym: "autosomal dominant dystrophic epidermolysis bullosa" RELATED [DOID:0080224]
synonym: "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568]
synonym: "DDEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131750]
synonym: "DDEB, generalised" EXACT OMO:0003005 []
synonym: "DDEB, generalized" EXACT [Orphanet:231568]
synonym: "DDEB, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568]
synonym: "DDEB-gen" EXACT [Orphanet:231568]
synonym: "dominant dystrophic epidermolysis bullosa" RELATED [GARD:0002139]
synonym: "dominant dystrophic epidermolysis bullosa, generalised" RELATED OMO:0003005 []
synonym: "dominant dystrophic epidermolysis bullosa, generalized" RELATED [GARD:0002139]
synonym: "dystrophic epidermolysis bullosa, autosomal dominant" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica with subcorneal cleavage" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, AD" EXACT [OMIM:131750, OMIM:genemap2]
synonym: "epidermolysis bullosa dystrophica, autosomal dominant" RELATED [MONDO:Lexical, OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)" RELATED [GARD:0002139]
synonym: "epidermolysis bullosa dystrophica, Pasini type" RELATED [OMIM:131750]
synonym: "epidermolysis bullosa dystrophica, Pasini type (formerly)" RELATED [GARD:0002139]
xref: DOID:0080224 {source="MONDO:equivalentTo"}
xref: GARD:2139 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:231568", source="Orphanet:231568/attributed", source="Orphanet:231568/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:131750 {source="DOID:0080224", source="MONDO:equivalentTo", source="Orphanet:231568", source="Orphanet:231568/e"}
xref: Orphanet:231568 {source="MONDO:equivalentTo", source="OMIM:131750"}
xref: SCTID:75875004 {source="MONDO:equivalentTo"}
xref: UMLS:C0432322 {source="MEDGEN:140935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006543 {source="DC-OMIM:131750", source="DOID:0080224", source="Orphanet:231568"} ! epidermolysis bullosa dystrophica
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007550
name: epidermolysis bullosa simplex 1A, generalized severe
def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." [https://orcid.org/0000-0001-5208-3432, Orphanet:79396]
subset: gard_rare {source="GARD:2141", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79396"}
subset: orphanet_rare {source="Orphanet:79396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dowling-Meara type epidermolysis bullosa simplex" RELATED [GARD:0002141]
synonym: "EBS, generalised severe" EXACT OMO:0003005 []
synonym: "EBS, generalized severe" EXACT [Orphanet:79396]
synonym: "EBS-DM" RELATED [GARD:0002141]
synonym: "EBS-gen sev" EXACT [DOID:0060735]
synonym: "EBSDM" EXACT ABBREVIATION [DOID:0060735, MONDO:Lexical, OMIM:131760]
synonym: "epidermolysis bullosa herpetiformis Dowling-Meara type" EXACT [DOID:0060735]
synonym: "epidermolysis bullosa herpetiformis, Dowling-Meara type" RELATED [OMIM:131760]
synonym: "epidermolysis bullosa simplex 1A, generalized severe" EXACT [OMIM:131760, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex Dowling-Meara type" EXACT [OMIM:131760]
synonym: "epidermolysis bullosa simplex, Dowling-Meara type" RELATED [MONDO:Lexical, OMIM:131760]
synonym: "epidermolysis bullosa simplex, generalised severe" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa simplex, generalized severe" RELATED [OMIM:131760]
synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [DOID:0060735, Orphanet:79396]
synonym: "generalised severe epidermolysis bullosa simplex" EXACT OMO:0003005 []
synonym: "generalized severe epidermolysis bullosa simplex" EXACT [DOID:0060735]
xref: DOID:0060735 {source="MONDO:equivalentTo"}
xref: GARD:2141 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:79396/attributed", source="Orphanet:79396/ntbt", source="DOID:0060735", source="Orphanet:79396"}
xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:38194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:131760 {source="Orphanet:79396/e", source="MONDO:equivalentTo", source="DOID:0060735", source="Orphanet:79396"}
xref: Orphanet:79396 {source="MONDO:equivalentTo", source="OMIM:131760", source="DOID:0060735"}
xref: SCTID:254179000 {source="MONDO:equivalentTo"}
xref: UMLS:C0079295 {source="MEDGEN:38194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type" xsd:anyURI {source="GARD:0002141"}

[Term]
id: MONDO:0007551
name: epidermolysis bullosa simplex 1C, localized
def: "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." [https://orcid.org/0000-0001-5208-3432, Orphanet:79400]
subset: gard_rare {source="GARD:2146", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79400"}
subset: orphanet_rare {source="Orphanet:79400"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS, acral form" RELATED [OMIM:131800]
synonym: "EBS-loc" EXACT [Orphanet:79400]
synonym: "epidermolysis bullosa of hands and feet" RELATED [OMIM:131800]
synonym: "epidermolysis bullosa simplex 1C, localized" EXACT [OMIM:131800, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex of palms and soles" EXACT [Orphanet:79400]
synonym: "epidermolysis bullosa simplex, localised" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa simplex, localized" RELATED [OMIM:131800]
synonym: "epidermolysis bullosa simplex, Weber-Cockayne type" EXACT [OMIM:131800, Orphanet:79400]
synonym: "localised epidermolysis bullosa simplex" EXACT OMO:0003005 []
synonym: "localized epidermolysis bullosa simplex" EXACT [Orphanet:79400]
synonym: "Weber-Cockayne syndrome" RELATED [GARD:0002146]
synonym: "Weber-Cockayne type epidermolysis bullosa simplex" RELATED [GARD:0002146]
xref: DOID:0080510 {source="MONDO:equivalentTo"}
xref: GARD:2146 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:79400/attributed", source="Orphanet:79400/ntbt", source="Orphanet:79400"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:131800 {source="Orphanet:79400/e", source="MONDO:equivalentTo", source="Orphanet:79400"}
xref: Orphanet:79400 {source="OMIM:131800", source="MONDO:equivalentTo"}
xref: SCTID:294705005 {source="MONDO:equivalentTo"}
xref: UMLS:C0080333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87016"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized" xsd:anyURI {source="GARD:0002146"}

[Term]
id: MONDO:0007552
name: pretibial dystrophic epidermolysis bullosa
def: "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." [Orphanet:79410]
subset: gard_rare {source="GARD:2155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79410"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Deb, pretibial" RELATED [OMIM:131850]
synonym: "DEB-Pt" EXACT [Orphanet:79410]
synonym: "dystrophic epidermolysis bullosa, pretibial" RELATED [OMIM:131850]
synonym: "epidermolysis bullosa dystrophica, pretibial" RELATED [OMIM:131850]
synonym: "epidermolysis bullosa, pretibial" RELATED [OMIM:131850]
synonym: "pretibial DEB" EXACT [Orphanet:79410]
synonym: "pretibial epidermolysis bullosa" RELATED [GARD:0002155]
xref: DOID:0080988 {source="MONDO:equivalentTo"}
xref: GARD:2155 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:79410/attributed", source="Orphanet:79410/ntbt", source="Orphanet:79410"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535494 {source="MONDO:equivalentTo"}
xref: OMIM:131850 {source="Orphanet:79410/e", source="MONDO:equivalentTo", source="Orphanet:79410"}
xref: Orphanet:79410 {source="MONDO:equivalentTo", source="OMIM:131850"}
xref: SCTID:67653003 {source="MONDO:equivalentTo"}
xref: UMLS:C0432321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98154"}
is_a: MONDO:0006543 {source="DC-OMIM:131850", source="MESH:C535494", source="Orphanet:79410"} ! epidermolysis bullosa dystrophica
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1

[Term]
id: MONDO:0007553
name: epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase
synonym: "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" EXACT [OMIM:131880]
xref: MEDGEN:342036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565049 {source="MONDO:equivalentTo"}
xref: OMIM:131880 {source="MONDO:equivalentTo"}
xref: UMLS:C1851570 {source="MEDGEN:342036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565049/inferred"} ! hereditary disease

[Term]
id: MONDO:0007554
name: epidermolysis bullosa simplex 1B, generalized intermediate
def: "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." [Orphanet:79399]
subset: gard_rare {source="GARD:2147", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79399"}
subset: orphanet_rare {source="Orphanet:79399"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS, generalised" RELATED OMO:0003005 []
synonym: "EBS, generalised intermediate" EXACT OMO:0003005 []
synonym: "EBS, generalized" RELATED [OMIM:131900]
synonym: "EBS, generalized intermediate" EXACT [Orphanet:79399]
synonym: "EBS-K" RELATED [GARD:0002147]
synonym: "epidermolysis bullosa simplex 1B, generalized intermediate" EXACT [OMIM:131900, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex, generalised" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa simplex, generalised intermediate" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa simplex, generalised non-Dowling-Meara" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa simplex, generalized" RELATED [OMIM:131900]
synonym: "epidermolysis bullosa simplex, generalized intermediate" RELATED [Orphanet:79399]
synonym: "epidermolysis bullosa simplex, generalized non-Dowling-Meara" RELATED [GARD:0002147]
synonym: "epidermolysis bullosa simplex, Kobner type" EXACT [Orphanet:79399]
synonym: "epidermolysis bullosa simplex, Koebner type" EXACT [OMIM:131900, Orphanet:79399]
synonym: "epidermolysis bullosa simplex, Köbner type" EXACT [Orphanet:79399]
synonym: "generalised EBS" RELATED OMO:0003005 []
synonym: "generalised EBS, non-Dowling-Meara type" EXACT OMO:0003005 []
synonym: "generalised epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT OMO:0003005 []
synonym: "generalized EBS" RELATED [GARD:0002147]
synonym: "generalized EBS, non-Dowling-Meara type" EXACT [Orphanet:79399]
synonym: "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT [Orphanet:79399]
xref: DOID:0080511 {source="MONDO:equivalentTo"}
xref: GARD:2147 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:79399/attributed", source="Orphanet:79399/ntbt", source="Orphanet:79399"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1794134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535961 {source="Orphanet:79399/e", source="Orphanet:79399"}
xref: OMIM:131900 {source="Orphanet:79399/e", source="MONDO:equivalentTo", source="Orphanet:79399"}
xref: Orphanet:79399 {source="OMIM:131900", source="MONDO:equivalentTo"}
xref: SCTID:90496008 {source="MONDO:equivalentTo"}
xref: UMLS:C5561924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794134"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007555
name: pidermolysis bullosa simplex 5A, Ogna type
def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." [https://orcid.org/0000-0001-5208-3432, Orphanet:79401]
subset: gard_rare {source="GARD:2148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79401"}
subset: orphanet_rare {source="Orphanet:79401"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS-O" EXACT [DOID:0060736, Orphanet:79401]
synonym: "EBS-Og" EXACT [DOID:0060736]
synonym: "EBSOG" EXACT ABBREVIATION [DOID:0060736, MONDO:Lexical, OMIM:131950]
synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT [OMIM:131950, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex, Ogna type" EXACT [MONDO:Lexical, OMIM:131950]
xref: DOID:0060736 {source="MONDO:equivalentTo"}
xref: GARD:2148 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:79401/attributed", source="Orphanet:79401/ntbt", source="DOID:0060736", source="Orphanet:79401"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535962 {source="Orphanet:79401/e", source="MONDO:equivalentTo", source="Orphanet:79401"}
xref: OMIM:131950 {source="Orphanet:79401/e", source="MONDO:equivalentTo", source="DOID:0060736", source="Orphanet:79401"}
xref: Orphanet:79401 {source="MONDO:equivalentTo", source="DOID:0060736", source="OMIM:131950"}
xref: SCTID:398071000 {source="MONDO:equivalentTo"}
xref: UMLS:C0432317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98488"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type" xsd:anyURI {source="GARD:0002148"}

[Term]
id: MONDO:0007556
name: epidermolysis bullosa simplex 2F, with mottled pigmentation
def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation." [https://orcid.org/0000-0001-5208-3432, Orphanet:79397]
subset: gard_rare {source="GARD:9737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79397"}
subset: orphanet_rare {source="Orphanet:79397"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS with mottled pigmentation" RELATED [GARD:0009737]
synonym: "EBS-MP" EXACT [Orphanet:79397]
synonym: "EBSMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131960]
synonym: "epidermolysis bullosa simplex 2F, with mottled pigmentation" EXACT [OMIM:131960, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex with mottled pigmentation" EXACT [MONDO:Lexical, OMIM:131960]
synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" RELATED [OMIM:131960]
synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" RELATED [GARD:0009737]
xref: DOID:0111346 {source="MONDO:equivalentTo"}
xref: GARD:9737 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:79397", source="Orphanet:79397/attributed", source="Orphanet:79397/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535959 {source="Orphanet:79397/e", source="MONDO:equivalentTo", source="Orphanet:79397"}
xref: OMIM:131960 {source="Orphanet:79397/e", source="MONDO:equivalentTo", source="Orphanet:79397"}
xref: Orphanet:79397 {source="MONDO:equivalentTo", source="OMIM:131960"}
xref: SCTID:254180002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432316 {source="MEDGEN:140934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 {source="MONDO:mim2gene_medgen"} ! KRT5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation" xsd:anyURI {source="GARD:0009737"}

[Term]
id: MONDO:0007557
name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails
synonym: "EBD, Bart type" EXACT [OMIM:132000, OMIM:genemap2]
synonym: "epidermolysis bullosa dystrophica, Bart type" RELATED [OMIM:132000]
synonym: "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" EXACT [OMIM:132000]
xref: DOID:0111347 {source="MONDO:equivalentTo"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562638 {source="MONDO:equivalentTo"}
xref: OMIM:132000 {source="MONDO:equivalentTo"}
xref: SCTID:2689001 {source="MONDO:equivalentTo"}
xref: UMLS:C0268371 {source="MEDGEN:82797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562638/inferred"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007558
name: benign occipital epilepsy
def: "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." [Orphanet:25968]
subset: gard_rare {source="GARD:2170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:25968"}
subset: orphanet_rare {source="Orphanet:25968"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BOE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132090]
synonym: "epilepsy, benign occipital" RELATED [MONDO:Lexical, OMIM:132090]
xref: GARD:2170 {source="MONDO:GARD"}
xref: ICD10CM:G40.0 {source="Orphanet:25968/attributed", source="Orphanet:25968/ntbt", source="Orphanet:25968"}
xref: MEDGEN:377052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:132090 {source="Orphanet:25968", source="MONDO:equivalentTo", source="Orphanet:25968/e"}
xref: Orphanet:25968 {source="MONDO:equivalentTo", source="OMIM:132090"}
xref: UMLS:C1851549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377052"}
is_a: MONDO:0015650 {source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome
relationship: excluded_subClassOf MONDO:0020072 {source="Orphanet:25968", source="https://orcid.org/0000-0001-5208-3432"} ! childhood-onset epilepsy syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital" xsd:anyURI {source="GARD:0002170"}

[Term]
id: MONDO:0007559
name: photoparoxysmal response 1
subset: gard_rare {source="GARD:15065", source="MONDO:GARD"}
subset: rare
synonym: "epilepsy, photogenic" RELATED [OMIM:132100]
synonym: "Photoconvulsive reaction" RELATED [OMIM:132100]
synonym: "photoparoxysmal response 1" EXACT [MONDO:Lexical, OMIM:132100]
synonym: "photosensitivity" RELATED [OMIM:132100]
synonym: "Ppr" RELATED [OMIM:132100]
synonym: "PPR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:132100]
xref: GARD:15065 {source="MONDO:GARD"}
xref: MEDGEN:358382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:132100 {source="MONDO:equivalentTo"}
xref: Orphanet:166409 {source="OMIM:132100"}
xref: UMLS:C1868677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358382"}
is_a: MONDO:0015643 {source="DC-OMIM:132100", source="OMIM:132100"} ! photosensitive epilepsy

[Term]
id: MONDO:0007560
name: reading seizures
subset: gard_rare {source="GARD:17029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166433"}
subset: orphanet_rare {source="Orphanet:166433"}
subset: rare
synonym: "epilepsy, reading" RELATED [OMIM:132300]
xref: GARD:17029 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166433/ntbt", source="Orphanet:166433"}
xref: MEDGEN:75817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:132300 {source="Orphanet:166433", source="MONDO:equivalentTo", source="Orphanet:166433/e"}
xref: Orphanet:166433 {source="MONDO:equivalentTo", source="OMIM:132300"}
xref: UMLS:C0278193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75817"}
is_a: MONDO:0017768 {source="Orphanet:166433"} ! reflex epilepsy

[Term]
id: MONDO:0007561
name: multiple epiphyseal dysplasia type 1
def: "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission." [Orphanet:93308]
subset: gard_rare {source="GARD:2180", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93308"}
subset: orphanet_rare {source="Orphanet:93308"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMP multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EDM1" EXACT ABBREVIATION [GARD:0002180, MONDO:Lexical, OMIM:132400, Orphanet:93308]
synonym: "epiphyseal dysplasia multiple 1" RELATED [GARD:0002180]
synonym: "epiphyseal dysplasia, Fairbank type" RELATED [OMIM:132400]
synonym: "epiphyseal dysplasia, multiple, 1" RELATED [MONDO:Lexical, OMIM:132400]
synonym: "epiphyseal dysplasia, multiple, type 1" EXACT [MONDORULE:1, OMIM:132400]
synonym: "epiphyseal dysplasia, ribbing type" RELATED [OMIM:132400]
synonym: "MED1" EXACT ABBREVIATION [Orphanet:93308]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COMP" EXACT []
synonym: "multiple epiphyseal dysplasia 1" RELATED [GARD:0002180]
synonym: "multiple epiphyseal dysplasia COMP-related" RELATED [GARD:0002180]
synonym: "multiple epiphyseal dysplasia, Comp-related" RELATED [OMIM:132400]
synonym: "Polyepiphyseal dysplasia type 1" EXACT [Orphanet:93308]
xref: DOID:0070303 {source="MONDO:equivalentTo"}
xref: GARD:2180 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93308/attributed", source="Orphanet:93308/ntbt", source="Orphanet:93308"}
xref: MEDGEN:325376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535501 {source="Orphanet:93308/e", source="Orphanet:93308"}
xref: OMIM:132400 {source="Orphanet:93308/e", source="MONDO:equivalentTo", source="GARD:0002180", source="Orphanet:93308"}
xref: Orphanet:93308 {source="MONDO:equivalentTo", source="OMIM:132400"}
xref: SCTID:715673002 {source="MONDO:equivalentTo"}
xref: UMLS:C1838280 {source="MEDGEN:325376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016648 {source="DC-OMIM:132400", source="MONDO:Redundant", source="OMIM:132400", source="Orphanet:93308"} ! multiple epiphyseal dysplasia
intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 ! COMP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 {source="MONDO:mim2gene_medgen"} ! COMP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1" xsd:anyURI {source="GARD:0002180"}

[Term]
id: MONDO:0007562
name: multiple epiphyseal dysplasia, Beighton type
def: "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." [Orphanet:166011]
subset: gard_rare {source="GARD:17012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDMMD" RELATED ABBREVIATION [MESH:C565046, MONDO:Lexical, OMIM:132450]
synonym: "epiphyseal dysplasia, multiple, with myopia and conductive deafness" RELATED [MONDO:Lexical, OMIM:132450]
synonym: "epiphyseal dysplasia, multiple, with myopia and deafness" EXACT [OMIM:132450, OMIM:genemap2]
synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [Orphanet:166011]
xref: DOID:0111348 {source="MONDO:equivalentTo"}
xref: GARD:17012 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:166011", source="MONDO:relatedTo", source="Orphanet:166011/attributed", source="Orphanet:166011/ntbt"}
xref: MEDGEN:377049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565046 {source="MONDO:equivalentTo"}
xref: OMIM:132450 {source="Orphanet:166011", source="MONDO:equivalentTo", source="Orphanet:166011/e", source="MEDIC:C565046"}
xref: Orphanet:166011 {source="MONDO:equivalentTo", source="OMIM:132450"}
xref: SCTID:719689005 {source="MONDO:equivalentTo"}
xref: UMLS:C1851536 {source="MEDGEN:377049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016648 {source="Orphanet:166011"} ! multiple epiphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:166011"} ! type 2 collagenopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007563
name: obsolete epistaxis, hereditary
is_obsolete: true

[Term]
id: MONDO:0007564
name: pilomatrixoma
def: "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." [Orphanet:91414]
subset: gard_rare {source="GARD:9452", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91414"}
subset: ordo_malformation_syndrome {source="Orphanet:91414"}
subset: orphanet_rare {source="Orphanet:91414"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign hair follicle neoplasm" NARROW [NCIT:C7368]
synonym: "benign pilomatricoma" NARROW [DOID:5374]
synonym: "benign pilomatrixoma" NARROW [NCIT:C7368]
synonym: "calcifying epithelioma of Malherbe" RELATED [GARD:0009452]
synonym: "calcifying Epitherlioma of Malherbe" EXACT [NCIT:C7368]
synonym: "epithelioma calcificans of Malherbe" EXACT [OMIM:132600, Orphanet:91414]
synonym: "pilomatricoma" EXACT [DOID:5374, NCIT:C7368, OMIM:132600, Orphanet:91414]
synonym: "pilomatricoma, somatic" EXACT [OMIM:132600, OMIM:genemap2]
synonym: "pilomatrixoma" EXACT [OMIM:132600]
synonym: "pilomatrixoma, benign" EXACT [NCIT:C7368]
synonym: "PTR" RELATED ABBREVIATION [GARD:0009452]
xref: DOID:5374 {source="MONDO:equivalentTo"}
xref: EFO:0009082 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9452 {source="MONDO:GARD"}
xref: ICD10CM:C44.3 {source="Orphanet:91414", source="Orphanet:91414/btnt"}
xref: ICD10CM:C44.6 {source="Orphanet:91414", source="Orphanet:91414/btnt"}
xref: ICDO:8110/0 {source="NCIT:C7368"}
xref: MedDRA:10035040 {source="Orphanet:91414/e", source="Orphanet:91414"}
xref: MEDGEN:61666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018296 {source="Orphanet:91414/e", source="MONDO:equivalentTo", source="Orphanet:91414", source="DOID:5374"}
xref: NCIT:C7368 {source="MONDO:equivalentTo", source="DOID:5374"}
xref: OMIM:132600 {source="Orphanet:91414/e", source="MONDO:equivalentTo", source="Orphanet:91414", source="DOID:5374"}
xref: Orphanet:91414 {source="MONDO:equivalentTo", source="OMIM:132600"}
xref: SCTID:274901004 {source="MONDO:equivalentTo", source="DOID:5374"}
xref: SCTID:44155009 {source="DOID:5374"}
xref: UMLS:C0206711 {source="MEDGEN:61666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003413 {source="DOID:5374", source="NCIT:C7368/inferred"} ! hair follicle neoplasm
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:91414", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma" xsd:anyURI {source="GARD:0009452"}

[Term]
id: MONDO:0007565
name: familial cylindromatosis
subset: gard_rare {source="GARD:9707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:211"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "'turban tumor' syndrome" RELATED [OMIM:132700]
synonym: "Ancell-Spiegler Cylindromas" RELATED [OMIM:132700]
synonym: "Ancell-Spiegler syndrome" EXACT [NCIT:C43352]
synonym: "CYLD" RELATED ABBREVIATION [GARD:0009707]
synonym: "Cylindromas, dermal eccrine" RELATED [OMIM:132700]
synonym: "cylindromatosis, familial" RELATED [OMIM:132700]
synonym: "turban tumor" EXACT [NCIT:C43352]
synonym: "turban tumor syndrome" EXACT [Orphanet:211]
synonym: "turban tumors" RELATED [GARD:0009707]
synonym: "turban tumour" EXACT OMO:0003005 []
synonym: "turban tumour syndrome" EXACT OMO:0003005 []
synonym: "turban tumours" RELATED OMO:0003005 []
xref: GARD:9707 {source="MONDO:GARD"}
xref: MEDGEN:343593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536611 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"}
xref: NCIT:C43352 {source="MONDO:equivalentTo"}
xref: OMIM:132700 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"}
xref: Orphanet:211 {source="MONDO:equivalentTo", source="OMIM:132700"}
xref: Orphanet:79493 {source="OMIM:132700"}
xref: UMLS:C1851526 {source="MEDGEN:343593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011512 {source="Orphanet:211"} ! Brooke-Spiegler syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:132700", source="Orphanet:211"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2584 {source="MONDO:mim2gene_medgen"} ! CYLD

[Term]
id: MONDO:0007566
name: multiple self-healing squamous epithelioma
def: "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." [Orphanet:65748]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3090", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65748"}
subset: orphanet_rare {source="Orphanet:65748"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ESS1" RELATED ABBREVIATION [OMIM:132800]
synonym: "ESS1 (formerly)" RELATED [GARD:0003090]
synonym: "ESS1, formerly" RELATED [OMIM:132800]
synonym: "familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type" EXACT [Orphanet:65748]
synonym: "Ferguson-Smith disease" EXACT [https://orcid.org/0000-0002-6601-2165, Orphanet:65748]
synonym: "Ferguson-Smith syndrome" EXACT []
synonym: "Ferguson-Smith tumor" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C4461]
synonym: "Ferguson-Smith tumour" EXACT OMO:0003005 []
synonym: "Ferguson-Smith type epithelioma" RELATED [OMIM:132800]
synonym: "Ferguson-Smith-type epithelioma" RELATED [OMIM:132800]
synonym: "MSSE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:132800, Orphanet:65748]
synonym: "multiple keratoacanthoma, Ferguson-Smith type" EXACT [Orphanet:65748]
synonym: "multiple self healing epithelioma of Ferguson-Smith" EXACT [NCIT:C4461]
synonym: "multiple self healing squamous epithelioma" RELATED [GARD:0003090]
synonym: "multiple self-healing epithelioma of Ferguson-Smith" EXACT [DOID:5585]
synonym: "multiple self-healing squamous epithelioma" EXACT CLINGEN_LABEL []
synonym: "multiple self-healing squamous epithelioma, susceptibility to" RELATED [MONDO:Lexical, OMIM:132800]
synonym: "self-healing squamous epithelioma type 1" EXACT [Orphanet:65748]
xref: DOID:5585 {source="MONDO:equivalentTo"}
xref: GARD:3090 {source="MONDO:GARD"}
xref: ICD10CM:C44.3 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"}
xref: ICD10CM:C44.6 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"}
xref: ICD10CM:C44.7 {source="Orphanet:65748/specific", source="Orphanet:65748", source="Orphanet:65748/btnt"}
xref: MEDGEN:154270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536150 {source="MONDO:equivalentTo"}
xref: NCIT:C4461 {source="DOID:5585", source="MONDO:equivalentTo"}
xref: OMIM:132800 {source="MONDO:equivalentTo", source="Orphanet:65748", source="Orphanet:65748/e"}
xref: Orphanet:65748 {source="MONDO:equivalentTo", source="OMIM:132800"}
xref: SCTID:254659009 {source="DOID:5585", source="MONDO:equivalentTo"}
xref: UMLS:C0546476 {source="MEDGEN:154270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015356 {source="NCIT:C4461"} ! hereditary neoplastic syndrome
relationship: disease_has_feature MONDO:0002527 {source="NCIT:C4461"} ! keratoacanthoma
relationship: disease_has_feature MONDO:0020173 {source="Orphanet:65748"} ! benign tumor of palpebral epidermis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11772 {source="MONDO:NCIT", source="MONDO:mim2gene_medgen"} ! TGFBR1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma" xsd:anyURI {source="GARD:0003090"}

[Term]
id: MONDO:0007567
name: obsolete Epstein-Barr virus insertion site 1
comment: Not a disease but a genomic locus.
synonym: "EBVS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132850]
synonym: "Epstein-Barr VIRUS insertion site 1" RELATED [OMIM:132850]
synonym: "Epstein-Barr virus insertion site 1" EXACT [MONDO:Lexical, OMIM:132850]
synonym: "Epstein-Barr Virus insertion site type 1" EXACT [MONDORULE:1, OMIM:132850]
synonym: "Epstein-Barr Virus integration site" RELATED [OMIM:132850]
xref: OMIM:132850 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1633" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007568
name: aortic aneurysm, familial thoracic 4
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9876", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132900]
synonym: "aortic aneurysm, familial thoracic 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:132900]
synonym: "aortic aneurysm, familial thoracic type 4" EXACT [MONDORULE:1, OMIM:132900]
synonym: "aortic aneurysm/aortic dissection and patent ductus arteriosus" RELATED [OMIM:132900]
synonym: "FAA4" RELATED ABBREVIATION [OMIM:132900]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11" EXACT [MONDO:design_pattern]
synonym: "MYH11 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:9876 {source="MONDO:GARD"}
xref: MEDGEN:338704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537784 {source="MONDO:equivalentTo"}
xref: OMIM:132900 {source="MONDO:equivalentTo"}
xref: Orphanet:91387 {source="OMIM:132900"}
xref: UMLS:C1851504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338704"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:132900", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7569 ! MYH11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7569 {source="MONDO:mim2gene_medgen"} ! MYH11
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4" xsd:anyURI {source="GARD:0009876"}

[Term]
id: MONDO:0007569
name: erythema nodosum, familial
synonym: "erythema nodosum, familial" EXACT [OMIM:132990]
synonym: "familial erythema nodosum" RELATED [GARD:0009259]
xref: ICD10CM:L49-L54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:377045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535510 {source="MONDO:equivalentTo"}
xref: OMIM:132990 {source="MONDO:equivalentTo"}
xref: UMLS:C1851503 {source="MEDGEN:377045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9259/familial-erythema-nodosum" xsd:anyURI {source="GARD:0009259"}

[Term]
id: MONDO:0007570
name: erythema palmare hereditarium
def: "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." [Orphanet:231031]
subset: gard_rare {source="GARD:17157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231031"}
subset: orphanet_rare {source="Orphanet:231031"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythema palmare hereditarium" EXACT [OMIM:133000]
synonym: "lane disease" EXACT [Orphanet:231031]
synonym: "Red palms disease" EXACT [Orphanet:231031]
xref: GARD:17157 {source="MONDO:GARD"}
xref: ICD10CM:L59.8 {source="Orphanet:231031", source="Orphanet:231031/attributed", source="Orphanet:231031/ntbt"}
xref: MEDGEN:343587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565041 {source="MONDO:equivalentTo"}
xref: OMIM:133000 {source="Orphanet:231031", source="MONDO:equivalentTo", source="Orphanet:231031/e"}
xref: Orphanet:231031 {source="MONDO:equivalentTo", source="OMIM:133000"}
xref: SCTID:763767006 {source="MONDO:equivalentTo"}
xref: UMLS:C1851502 {source="MEDGEN:343587", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="Orphanet:231031", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0007571
name: primary erythermalgia
def: "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder." [Orphanet:90026]
comment: Editor note: consider link to MONDO:0016028
subset: gard_rare {source="GARD:6377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90026"}
subset: orphanet_rare {source="Orphanet:90026"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythermalgia, primary" RELATED [OMIM:133020]
synonym: "erythromelalgia, familial" RELATED [OMIM:133020]
synonym: "erythromelalgia, primary" RELATED [OMIM:133020]
synonym: "Mitchell disease (formerly)" RELATED DEPRECATED [GARD:0006377]
synonym: "neuropathy, small fiber" RELATED [OMIM:133020]
synonym: "neuropathy, small fibre" RELATED OMO:0003005 []
synonym: "PERYTHM" EXACT ABBREVIATION [NCIT:C125383]
synonym: "primary erythromelalgia" EXACT [NCIT:C125383]
synonym: "small fiber neuropathy" RELATED [OMIM:133020, OMIM:genemap2]
synonym: "small fibre neuropathy" RELATED OMO:0003005 []
xref: GARD:6377 {source="MONDO:GARD"}
xref: ICD10CM:I73.8 {source="Orphanet:90026", source="Orphanet:90026/index", source="Orphanet:90026/ntbt"}
xref: MEDGEN:8688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125383 {source="MONDO:equivalentTo"}
xref: OMIM:133020 {source="MONDO:equivalentTo", source="Orphanet:90026", source="Orphanet:90026/e"}
xref: Orphanet:306577 {source="OMIM:133020"}
xref: Orphanet:90026 {source="OMIM:133020", source="MONDO:equivalentTo"}
xref: SCTID:709489006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014805 {source="MEDGEN:8688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016028 {source="NCIT:C125383"} ! erythromelalgia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007572
name: primary familial polycythemia due to EPO receptor mutation
def: "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." [Orphanet:90042]
comment: Editor note: check relation to familial polycythemia
subset: gard_rare {source="GARD:9843", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90042"}
subset: orphanet_rare {source="Orphanet:90042"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant benign erythrocytosis" RELATED [DOID:0060652]
synonym: "congenital erythrocytosis due to erythropoietin receptor mutation" EXACT [Orphanet:90042]
synonym: "congenital polycythemia due to erythropoietin receptor mutation" EXACT [Orphanet:90042]
synonym: "ECYT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133100]
synonym: "EPOR familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "erythrocytosis autosomal dominant benign" RELATED [GARD:0009843]
synonym: "erythrocytosis, autosomal dominant benign" RELATED [OMIM:133100]
synonym: "erythrocytosis, familial, 1" EXACT [GARD:0009843, MONDO:Lexical, OMIM:133100, OMIM:genemap2]
synonym: "erythrocytosis, familial, type 1" EXACT [MONDORULE:1, OMIM:133100]
synonym: "erythrocytosis, somatic" EXACT [OMIM:133100, OMIM:genemap2]
synonym: "familial erythrocytosis" EXACT [Orphanet:90042]
synonym: "familial erythrocytosis 1" EXACT [DOID:0060652]
synonym: "familial erythrocytosis type 1" EXACT [DOID:0060652, MONDORULE:1]
synonym: "familial erythrocytosis, 1" EXACT [GARD:0009843]
synonym: "familial polycythemia caused by mutation in EPOR" EXACT [MONDO:design_pattern]
synonym: "PFCP" EXACT ABBREVIATION [Orphanet:90042]
synonym: "polycythemia, primary familial and congenital" RELATED [OMIM:133100]
synonym: "primary congenital erythrocytosis" EXACT [Orphanet:90042]
synonym: "primary familial and congenital polycythemia" EXACT [DOID:0060652, Orphanet:90042]
synonym: "primary familial polycythemia" RELATED [Orphanet:90042]
xref: DOID:0060652 {source="MONDO:equivalentTo"}
xref: GARD:9843 {source="MONDO:GARD"}
xref: ICD10CM:D75.0 {source="Orphanet:90042", source="Orphanet:90042/attributed", source="Orphanet:90042/ntbt", source="DOID:0060652"}
xref: icd11.foundation:962836252 {source="Orphanet:90042", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:289.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1641215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:133100 {source="Orphanet:90042", source="DOID:0060652", source="MONDO:equivalentTo", source="Orphanet:90042/e"}
xref: Orphanet:90042 {source="DOID:0060652", source="MONDO:equivalentTo", source="OMIM:133100"}
xref: SCTID:17342003 {source="MONDO:equivalentTo"}
xref: UMLS:C4551637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641215"}
is_a: MONDO:0001115 {source="DC-OMIM:133100", source="DOID:0060652", source="MONDO:Redundant", source="OMIM:133100"} ! familial polycythemia
is_a: MONDO:0005570 {source="MONDO:Entailed", source="Orphanet:90042", source="Orphanet:90042/inferred"} ! hematologic disorder
intersection_of: MONDO:0001115 ! familial polycythemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3416 ! EPOR
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015549"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3416 {source="MONDO:mim2gene_medgen"} ! EPOR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1" xsd:anyURI {source="GARD:0009843"}

[Term]
id: MONDO:0007573
name: erythroleukemia, familial, susceptibility to
def: "An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
subset: inferred_rare
subset: rare
synonym: "acute erythroleukemia, familial" RELATED []
synonym: "Di Guglielmo disease, familial" RELATED [OMIM:133180]
synonym: "ERYTHROLEUKEMIA, familial" RELATED [OMIM:133180]
synonym: "erythroleukemia, familial, susceptibility to" EXACT [OMIM:133180, OMIM:genemap2]
synonym: "hereditary acute erythroid leukaemia" EXACT OMO:0003005 []
synonym: "hereditary acute erythroid leukemia" EXACT [MONDO:patterns/hereditary]
synonym: "leukemia, acute myelogenous, M6" RELATED [OMIM:133180]
xref: ICD9:207.0 {source="EFO:0000218"}
xref: MEDGEN:1790819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535673 {source="EFO:0000218"}
xref: MESH:C565039 {source="MONDO:equivalentTo"}
xref: NCIT:C8923 {source="EFO:0000218"}
xref: OMIM:133180 {source="MONDO:equivalentTo", source="EFO:0000218"}
xref: Orphanet:318 {source="OMIM:133180"}
xref: UMLS:C5552985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790819"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3431 ! ERBB3
intersection_of: predisposes_towards MONDO:0017858 ! acute erythroid leukemia
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0000218", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: predisposes_towards MONDO:0017858 {source="MONDO:Redundant", source="Orphanet:318/btnt"} ! acute erythroid leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0007574
name: spinocerebellar ataxia type 34
def: "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." [Orphanet:1955]
subset: gard_rare {source="GARD:59", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1105"}
subset: ordo_disorder {source="Orphanet:1955"}
subset: orphanet_rare {source="Orphanet:1955"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythrokeratodermia - ataxia" RELATED [GARD:0000059]
synonym: "Erythrokeratodermia with Ataxia" EXACT [NORD:1105]
synonym: "erythrokeratodermia with ataxia" EXACT [GARD:0000059, OMIM:133190, Orphanet:1955]
synonym: "Giroux Barbeau syndrome" RELATED [GARD:0000059]
synonym: "SCA34" EXACT ABBREVIATION [GARD:0000059, MONDO:Lexical, OMIM:133190, Orphanet:1955]
synonym: "spinocerebellar ataxia 34" RELATED [MONDO:Lexical, OMIM:133190]
synonym: "spinocerebellar ataxia and erythrokeratodermia" EXACT [Orphanet:1955]
synonym: "spinocerebellar ataxia type 34" EXACT [MONDORULE:2, OMIM:133190]
xref: DOID:0050981 {source="MONDO:equivalentTo"}
xref: GARD:59 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:1955/attributed", source="Orphanet:1955/ntbt", source="Orphanet:1955"}
xref: MEDGEN:338703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535514 {source="Orphanet:1955/e", source="Orphanet:1955"}
xref: MESH:C535738 {source="Orphanet:1955/e", source="MONDO:equivalentTo", source="Orphanet:1955"}
xref: NORD:1105 {source="MONDO:NORD"}
xref: OMIM:133190 {source="Orphanet:1955/e", source="DOID:0050981", source="GARD:0000059", source="MONDO:equivalentTo", source="Orphanet:1955"}
xref: Orphanet:1955 {source="GARD:0000059", source="MONDO:equivalentTo", source="OMIM:133190"}
xref: SCTID:719255000 {source="MONDO:equivalentTo"}
xref: UMLS:C1851481 {source="MEDGEN:338703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:1955", source="Orphanet:1955/inferred"} ! disease
is_a: MONDO:0019270 {source="Orphanet:1955"} ! erythrokeratoderma
is_a: MONDO:0019792 {source="Orphanet:1955"} ! autosomal dominant cerebellar ataxia type I
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare

[Term]
id: MONDO:0007575
name: obsolete erythrokeratodermia variabilis
is_obsolete: true
replaced_by: MONDO:0017851

[Term]
id: MONDO:0007576
name: esophageal cancer
def: "A primary or metastatic malignant neoplasm involving the esophagus." [NCIT:C7478]
subset: otar {source="MONDO:OTAR"}
synonym: "Aerodigestive tract cancer, susceptibility to" RELATED [OMIM:133239]
synonym: "Ca lower third esophagus" NARROW [DOID:5041]
synonym: "Ca lower third oesophagus" NARROW OMO:0003005 []
synonym: "Ca middle third esophagus" NARROW [DOID:5041]
synonym: "Ca middle third oesophagus" NARROW OMO:0003005 []
synonym: "cancer of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "cancer of oesophagus" EXACT OMO:0003005 []
synonym: "Escc, susceptibility to" RELATED [OMIM:133239]
synonym: "esophageal cancer" EXACT [OMIM:133239]
synonym: "esophageal cancer, somatic" EXACT [OMIM:133239, OMIM:genemap2]
synonym: "esophageal carcinoma, somatic" EXACT [OMIM:133239, OMIM:genemap2]
synonym: "esophageal squamous cell carcinoma, somatic" EXACT [OMIM:133239, OMIM:genemap2]
synonym: "esophageal squamous cell carcinoma, susceptibility to" RELATED [OMIM:133239]
synonym: "esophagus cancer" EXACT [DOID:5041, MONDO:patterns/location]
synonym: "gastric cardia adenocarcinoma, susceptibility to" RELATED [OMIM:133239]
synonym: "malignant esophageal neoplasm" EXACT [NCIT:C7478]
synonym: "malignant esophageal tumor" EXACT [NCIT:C7478]
synonym: "malignant esophageal tumour" EXACT OMO:0003005 []
synonym: "malignant esophagus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant esophagus tumor" EXACT [NCIT:C7478]
synonym: "malignant neoplasm of distal third of esophagus" NARROW [DOID:5041]
synonym: "malignant neoplasm of distal third of oesophagus" NARROW OMO:0003005 []
synonym: "malignant neoplasm of esophagus" EXACT [MONDO:patterns/cancer, NCIT:C7478]
synonym: "malignant neoplasm of lower third of esophagus" NARROW [DOID:5041]
synonym: "malignant neoplasm of lower third of oesophagus" NARROW OMO:0003005 []
synonym: "malignant neoplasm of middle third of esophagus" NARROW [DOID:5041]
synonym: "malignant neoplasm of middle third of oesophagus" NARROW OMO:0003005 []
synonym: "malignant neoplasm of oesophagus" EXACT OMO:0003005 []
synonym: "malignant neoplasm of proximal third of esophagus" NARROW [DOID:5041]
synonym: "malignant neoplasm of proximal third of oesophagus" NARROW OMO:0003005 []
synonym: "malignant neoplasm of the esophagus" EXACT [NCIT:C7478]
synonym: "malignant neoplasm of the oesophagus" EXACT OMO:0003005 []
synonym: "malignant neoplasm of upper third esophagus" NARROW [DOID:5041]
synonym: "malignant neoplasm of upper third oesophagus" NARROW OMO:0003005 []
synonym: "malignant oesophagus neoplasm" EXACT OMO:0003005 []
synonym: "malignant oesophagus tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of abdominal esophagus" NARROW [DOID:5041, NCIT:C4764]
synonym: "malignant tumor of distal third of esophagus" NARROW [DOID:5041, NCIT:C3535]
synonym: "malignant tumor of esophagus" EXACT [NCIT:C7478]
synonym: "malignant tumor of proximal third of esophagus" NARROW [DOID:5041, NCIT:C3533]
synonym: "malignant tumor of the esophagus" EXACT [NCIT:C7478]
synonym: "malignant tumor of the middle third of the esophagus" NARROW [DOID:5041, NCIT:C3534]
synonym: "malignant tumour of abdominal oesophagus" NARROW OMO:0003005 []
synonym: "malignant tumour of distal third of oesophagus" NARROW OMO:0003005 []
synonym: "malignant tumour of oesophagus" EXACT OMO:0003005 []
synonym: "malignant tumour of proximal third of oesophagus" NARROW OMO:0003005 []
synonym: "malignant tumour of the middle third of the oesophagus" NARROW OMO:0003005 []
synonym: "malignant tumour of the oesophagus" EXACT OMO:0003005 []
synonym: "oesophagus cancer" EXACT OMO:0003005 []
xref: DOID:5041 {source="MONDO:equivalentTo"}
xref: ICD10CM:C15.3 {source="DOID:5041"}
xref: ICD10CM:C15.4 {source="DOID:5041"}
xref: ICD10CM:C15.5 {source="DOID:5041"}
xref: ICD9:150.2 {source="MONDO:relatedTo", source="DOID:5041"}
xref: ICD9:150.3 {source="DOID:5041"}
xref: ICD9:150.4 {source="DOID:5041"}
xref: ICD9:150.5 {source="DOID:5041"}
xref: ICD9:150.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:5041"}
xref: ICD9:150.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:107792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004938 {source="DOID:5041"}
xref: NCIT:C3028 {source="DOID:5041"}
xref: NCIT:C3533 {source="DOID:5041"}
xref: NCIT:C3534 {source="DOID:5041"}
xref: NCIT:C3535 {source="DOID:5041"}
xref: NCIT:C4764 {source="MONDO:relatedTo", source="DOID:5041"}
xref: NCIT:C7478 {source="MONDO:equivalentTo"}
xref: OMIM:133239 {source="MONDO:equivalentTo", source="DOID:5041"}
xref: Orphanet:70482 {source="OMIM:133239"}
xref: Orphanet:99977 {source="OMIM:133239"}
xref: SCTID:126817006 {source="DOID:5041"}
xref: SCTID:154443000 {source="DOID:5041"}
xref: SCTID:154444006 {source="DOID:5041"}
xref: SCTID:187724003 {source="MONDO:relatedTo", source="DOID:5041"}
xref: SCTID:187725002 {source="DOID:5041"}
xref: SCTID:187726001 {source="DOID:5041"}
xref: SCTID:187727005 {source="DOID:5041"}
xref: SCTID:187729008 {source="DOID:5041"}
xref: SCTID:269523008 {source="DOID:5041"}
xref: SCTID:269524002 {source="DOID:5041"}
xref: SCTID:363402007 {source="MONDO:equivalentTo"}
xref: SCTID:93656003 {source="DOID:5041"}
xref: SCTID:93877002 {source="DOID:5041"}
xref: SCTID:93895004 {source="DOID:5041"}
xref: SCTID:94119000 {source="DOID:5041"}
xref: UMLS:C0546837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107792"}
is_a: MONDO:0002516 {source="DOID:5041", source="MONDO:Redundant", source="NCIT:C7478"} ! digestive system cancer
is_a: MONDO:0003749 {source="DOID:5041", source="MONDO:Redundant", source="NCIT:C7478/inferred"} ! esophageal disorder
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C7478"} ! neoplasm of esophagus
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001043 ! esophagus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007577
name: esophageal ring, lower
synonym: "esophageal ring, lower" EXACT [OMIM:133240]
xref: ICD9:750.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562765 {source="MONDO:equivalentTo"}
xref: OMIM:133240 {source="MONDO:equivalentTo"}
xref: SCTID:235623002 {source="MONDO:equivalentTo"}
xref: UMLS:C0341137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83320"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007578
name: obsolete esterase B
synonym: "ESB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133260]
synonym: "esterase B" EXACT [MONDO:Lexical, OMIM:133260]
synonym: "esterase type B" EXACT [MONDORULE:1, OMIM:133260]
xref: MESH:C049262 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:133260 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007579
name: obsolete esterase C
synonym: "ESC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133270]
synonym: "esterase C" EXACT [MONDO:Lexical, OMIM:133270]
synonym: "esterase type C" EXACT [MONDORULE:1, OMIM:133270]
xref: OMIM:133270 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007580
name: obsolete esterase ES-2, regulator for
comment: Reason: out of scope specific to autosomal disorder. Term to consider: none
synonym: "esterase ES-2, regulator for" EXACT [OMIM:133300]
xref: OMIM:133300 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007581
name: exchondrosis of pinna, posterior
synonym: "Ear bump" RELATED [OMIM:133500]
synonym: "exchondrosis of pinna, posterior" EXACT [OMIM:133500]
xref: MEDGEN:377032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565036 {source="MONDO:equivalentTo"}
xref: OMIM:133500 {source="MONDO:equivalentTo"}
xref: UMLS:C1851463 {source="MEDGEN:377032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007582
name: obsolete Cockayne syndrome B
is_obsolete: true
replaced_by: MONDO:0019570

[Term]
id: MONDO:0007583
name: obsolete exostoses of heel
synonym: "exostoses of heel" EXACT [OMIM:133600]
xref: MESH:C563167 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:133600 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: HP:0100777

[Term]
id: MONDO:0007584
name: exostoses-anetodermia-brachydactyly type E syndrome
def: "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985." [Orphanet:1962]
subset: gard_rare {source="GARD:2202", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1962"}
subset: ordo_malformation_syndrome {source="Orphanet:1962"}
subset: orphanet_rare {source="Orphanet:1962"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "exostoses with anetodermia and brachydactyly, type E" RELATED [OMIM:133690]
xref: GARD:2202 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:1962", source="Orphanet:1962/attributed", source="Orphanet:1962/ntbt"}
xref: MEDGEN:338695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565034 {source="MONDO:equivalentTo"}
xref: OMIM:133690 {source="MONDO:equivalentTo", source="Orphanet:1962", source="Orphanet:1962/e"}
xref: Orphanet:1962 {source="OMIM:133690", source="MONDO:equivalentTo"}
xref: UMLS:C1851428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338695"}
is_a: MONDO:0003847 {source="OMIM:133690"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:1962", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components

[Term]
id: MONDO:0007585
name: exostoses, multiple, type 1
def: "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diaphyseal Aclasis" RELATED [OMIM:133700]
synonym: "exostoses, multiple caused by mutation in EXT1" EXACT [MONDO:design_pattern]
synonym: "exostoses, multiple, type 1" EXACT CLINGEN_LABEL []
synonym: "exostoses, multiple, type I" RELATED [OMIM:133700]
synonym: "EXT" RELATED ABBREVIATION [OMIM:133700]
synonym: "EXT1 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple cartilaginous exostoses" RELATED [OMIM:133700]
synonym: "multiple osteochondromas" RELATED [OMIM:133700]
synonym: "osteochondromatosis" RELATED [OMIM:133700]
xref: GARD:2204 {source="MONDO:GARD"}
xref: OMIM:133700 {source="MONDO:equivalentTo"}
xref: Orphanet:321 {source="OMIM:133700"}
is_a: MONDO:0005508 {source="DC-OMIM:133700", source="MONDO:Redundant", source="OMIM:133700"} ! hereditary multiple osteochondromas
intersection_of: MONDO:0005508 ! hereditary multiple osteochondromas
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3512 ! EXT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3512 {source="MONDO:mim2gene_medgen"} ! EXT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1" xsd:anyURI {source="GARD:0002204"}

[Term]
id: MONDO:0007586
name: exostoses, multiple, type 2
def: "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." [NCIT:C18252]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2205", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "exostoses (Multiple) 2 Gene" EXACT [NCIT:C18252]
synonym: "exostoses, multiple caused by mutation in EXT2" EXACT [MONDO:design_pattern]
synonym: "exostoses, multiple, type 2" EXACT CLINGEN_LABEL []
synonym: "exostoses, multiple, type II" RELATED [OMIM:133701]
synonym: "Ext2" RELATED [OMIM:133701]
synonym: "EXT2 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EXT2 Gene" EXACT [NCIT:C18252]
xref: GARD:2205 {source="MONDO:GARD"}
xref: MEDGEN:377018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C18252 {source="MONDO:equivalentTo"}
xref: OMIM:133701 {source="MONDO:equivalentTo"}
xref: Orphanet:321 {source="OMIM:133701"}
xref: UMLS:C1851413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377018"}
is_a: MONDO:0005508 {source="DC-OMIM:133701", source="MONDO:Redundant"} ! hereditary multiple osteochondromas
intersection_of: MONDO:0005508 ! hereditary multiple osteochondromas
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3513 ! EXT2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3513 {source="MONDO:mim2gene_medgen"} ! EXT2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2" xsd:anyURI {source="GARD:0002205"}

[Term]
id: MONDO:0007587
name: external auditory canal atresia-vertical talus-hypertelorism syndrome
subset: gard_rare {source="GARD:4638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3023"}
subset: ordo_malformation_syndrome {source="Orphanet:3023"}
subset: orphanet_rare {source="Orphanet:3023"}
subset: rare
synonym: "external auditory canal, bilateral atresia of, with congenital vertical talus" RELATED [OMIM:133705]
synonym: "inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" RELATED [GARD:0004638]
synonym: "Rasmussen Johnsen Thomsen syndrome" RELATED [GARD:0004638]
synonym: "Rasmussen syndrome" RELATED [OMIM:133705]
synonym: "Rasmussen-Johnsen-Thomsen syndrome" EXACT [Orphanet:3023]
xref: GARD:4638 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3023", source="Orphanet:3023/attributed", source="Orphanet:3023/ntbt"}
xref: MEDGEN:361813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535290 {source="Orphanet:3023", source="Orphanet:3023/e"}
xref: OMIM:133705 {source="Orphanet:3023", source="MONDO:equivalentTo", source="Orphanet:3023/e"}
xref: Orphanet:3023 {source="OMIM:133705", source="MONDO:equivalentTo"}
xref: UMLS:C1876181 {source="MEDGEN:361813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3023"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis
is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0007588
name: extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
def: "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975." [Orphanet:1964]
subset: gard_rare {source="GARD:2213", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1964"}
subset: ordo_malformation_syndrome {source="Orphanet:1964"}
subset: orphanet_rare {source="Orphanet:1964"}
subset: rare
synonym: "Char-Douglas-Dungan syndrome" EXACT [Orphanet:1964]
synonym: "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" RELATED [OMIM:133750]
xref: GARD:2213 {source="MONDO:GARD"}
xref: MEDGEN:343564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565032 {source="MONDO:equivalentTo"}
xref: OMIM:133750 {source="MONDO:equivalentTo", source="Orphanet:1964", source="Orphanet:1964/e"}
xref: Orphanet:1964 {source="MONDO:equivalentTo", source="OMIM:133750"}
xref: UMLS:C1851412 {source="MONDO:equivalentTo", source="MEDGEN:343564", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1964"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019289 {source="Orphanet:1964"} ! hyperpigmentation of the skin

[Term]
id: MONDO:0007589
name: exudative vitreoretinopathy 1
subset: gard_rare {source="GARD:15068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Criswick-Schepens syndrome" RELATED [OMIM:133780]
synonym: "EVR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133780]
synonym: "exudative vitreoretinopathy 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:133780]
synonym: "exudative vitreoretinopathy type 1" EXACT [MONDORULE:1, OMIM:133780]
synonym: "exudative vitreoretinopathy, familial, autosomal dominant" RELATED [OMIM:133780]
synonym: "FEVR, autosomal dominant" RELATED [OMIM:133780]
synonym: "retinopathy of prematurity" RELATED [OMIM:133780]
xref: DOID:0111412 {source="MONDO:equivalentTo"}
xref: GARD:15068 {source="MONDO:GARD"}
xref: MEDGEN:343561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536382 {source="MONDO:equivalentTo"}
xref: NCIT:C175048 {source="MONDO:equivalentTo"}
xref: OMIM:133780 {source="MONDO:equivalentTo"}
xref: Orphanet:891 {source="OMIM:133780"}
xref: Orphanet:90050 {source="MONDO:relatedTo", source="OMIM:133780"}
xref: UMLS:C1851402 {source="MEDGEN:343561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019516 {source="DC-OMIM:133780", source="OMIM:133780"} ! exudative vitreoretinopathy

[Term]
id: MONDO:0007590
name: hemifacial hypertrophy
def: "Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties." [Orphanet:141145]
subset: gard_rare {source="GARD:16971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141145"}
subset: ordo_malformation_syndrome {source="Orphanet:141145"}
subset: orphanet_rare {source="Orphanet:141145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial asymmetry" RELATED [OMIM:133900]
synonym: "facial hemihypertrophy" RELATED [OMIM:133900]
synonym: "hemifacial hyperplasia" RELATED [OMIM:133900]
synonym: "hemifacial hypertrophy" EXACT [OMIM:133900]
xref: GARD:16971 {source="MONDO:GARD"}
xref: ICD10CM:Q67.4 {source="Orphanet:141145/inclusion", source="Orphanet:141145", source="Orphanet:141145/ntbt"}
xref: MEDGEN:452987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:133900 {source="MONDO:equivalentTo", source="Orphanet:141145", source="Orphanet:141145/e"}
xref: Orphanet:141145 {source="MONDO:equivalentTo", source="OMIM:133900"}
xref: UMLS:C1399354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452987"}
is_a: MONDO:0019716 {source="Orphanet:141145"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0015496 {source="Orphanet:141145", source="https://orcid.org/0000-0001-5208-3432"} ! macroglossia

[Term]
id: MONDO:0007591
name: obsolete facial hypertrichosis
comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0002219
synonym: "facial hypertrichosis" EXACT [MONDO:ambiguous]
synonym: "facial hypertrichosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0002219 {source="MONDO:otherHierarchy"}
xref: MESH:C565029 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:134000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000589 "facial hypertrichosis (disease)" xsd:string
is_obsolete: true
consider: HP:0002219

[Term]
id: MONDO:0007592
name: familial recurrent peripheral facial palsy
subset: gard_rare {source="GARD:16609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2809"}
subset: orphanet_rare {source="Orphanet:2809"}
subset: rare
synonym: "facial palsy, familial recurrent peripheral" RELATED [OMIM:134200]
synonym: "familial recurrent Bell palsy" EXACT [Orphanet:2809]
xref: GARD:16609 {source="MONDO:GARD"}
xref: ICD10CM:G51.0 {source="Orphanet:2809", source="MONDO:relatedTo", source="Orphanet:2809/attributed", source="Orphanet:2809/ntbt"}
xref: MEDGEN:342742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565028 {source="MONDO:equivalentTo"}
xref: OMIM:134200 {source="Orphanet:2809", source="MONDO:equivalentTo", source="Orphanet:2809/e"}
xref: Orphanet:2809 {source="MONDO:equivalentTo", source="OMIM:134200"}
xref: UMLS:C1851399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342742"}
is_a: MONDO:0020127 {source="Orphanet:2809"} ! hereditary peripheral neuropathy

[Term]
id: MONDO:0007593
name: facial spasm
synonym: "facial spasm" EXACT [OMIM:134300]
xref: MEDGEN:124458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:134300 {source="MONDO:equivalentTo"}
xref: UMLS:C0278151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124458"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007594
name: factor 5 excess with spontaneous thrombosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "factor V excess with spontaneous thrombosis" RELATED [OMIM:134400]
synonym: "Proaccelerin Excess" EXACT [MESH:C565026, OMIM:134400]
synonym: "thrombophilia with elevated Factor 5" RELATED [OMIM:134400]
xref: MEDGEN:341996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565026 {source="MONDO:equivalentTo"}
xref: OMIM:134400 {source="MONDO:equivalentTo"}
xref: UMLS:C1851378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341996"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0100240 {source="MESH:C565026"} ! inherited thrombophilia
relationship: disease_arises_from_feature HP:0011996 ! Elevated coagulation factor V activity

[Term]
id: MONDO:0007595
name: factor VII and Factor VIII, combined deficiency of
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "factor 7 and Factor VIII, combined deficiency of" RELATED [OMIM:134430]
synonym: "factor VII and Factor VIII, combined deficiency of" EXACT [OMIM:134430]
synonym: "familial multiple coagulation Factor deficiency 4" RELATED [OMIM:134430]
synonym: "multiple coagulation Factor deficiency 4" RELATED [OMIM:134430]
xref: MEDGEN:341995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565025 {source="MONDO:equivalentTo"}
xref: OMIM:134430 {source="MONDO:equivalentTo"}
xref: UMLS:C1851377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341995"}
is_a: MONDO:0021181 {source="MESH:C565025"} ! inherited blood coagulation disorder
relationship: disease_arises_from_feature HP:0003125 ! Reduced factor VIII activity
relationship: disease_arises_from_feature HP:0004841 ! Reduced factor XII activity

[Term]
id: MONDO:0007596
name: obsolete factor VIII deficiency
is_obsolete: true
replaced_by: MONDO:0010602

[Term]
id: MONDO:0007597
name: factor VIII and Factor IX, combined deficiency of
synonym: "F8F9D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:134510]
synonym: "factor 8 and Factor IX, combined deficiency of" RELATED [OMIM:134510]
synonym: "factor VIII and Factor IX, combined deficiency of" EXACT [MONDO:Lexical, OMIM:134510]
synonym: "factor VIII and factor IX, combined deficiency OF" RELATED [OMIM:134510]
synonym: "familial multiple coagulation Factor deficiency 2" RELATED [OMIM:134510]
xref: MEDGEN:341994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565024 {source="MONDO:equivalentTo"}
xref: OMIM:134510 {source="MONDO:equivalentTo"}
xref: UMLS:C1851376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341994"}
is_a: MONDO:0003847 {source="MESH:C565024/inferred"} ! hereditary disease
relationship: disease_arises_from_feature HP:0003125 ! Reduced factor VIII activity
relationship: disease_arises_from_feature HP:0011858 ! Reduced factor IX activity

[Term]
id: MONDO:0007598
name: factors VIII, IX and XI, combined deficiency of
synonym: "factors VIII, 9 and Xi, combined deficiency of" RELATED [OMIM:134520]
synonym: "factors VIII, IX and XI, combined deficiency of" EXACT [OMIM:134520]
synonym: "familial multiple coagulation Factor deficiency 5" RELATED [OMIM:134520]
synonym: "multiple coagulation Factor deficiency 5" RELATED [OMIM:134520]
xref: MEDGEN:341993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565023 {source="MONDO:equivalentTo"}
xref: OMIM:134520 {source="MONDO:equivalentTo"}
xref: UMLS:C1851375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341993"}
is_a: MONDO:0003847 {source="MESH:C565023/inferred"} ! hereditary disease
relationship: disease_arises_from_feature HP:0001929 ! Reduced factor XI activity
relationship: disease_arises_from_feature HP:0003125 ! Reduced factor VIII activity
relationship: disease_arises_from_feature HP:0011858 ! Reduced factor IX activity

[Term]
id: MONDO:0007599
name: factor 9 and Factor XI, combined deficiency of
synonym: "factor IX and factor XI, combined deficiency OF" RELATED [OMIM:134540]
synonym: "familial multiple coagulation Factor deficiency 6" RELATED [OMIM:134540]
synonym: "multiple coagulation Factor deficiency 6" RELATED [OMIM:134540]
xref: MEDGEN:377012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565022 {source="MONDO:equivalentTo"}
xref: OMIM:134540 {source="MONDO:equivalentTo"}
xref: UMLS:C1851374 {source="MEDGEN:377012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565022/inferred"} ! hereditary disease
relationship: disease_arises_from_feature HP:0001929 ! Reduced factor XI activity
relationship: disease_arises_from_feature HP:0011858 ! Reduced factor IX activity

[Term]
id: MONDO:0007600
name: primary Fanconi syndrome
def: "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones." [https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome]
subset: gard_rare {source="GARD:9118", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3337"}
subset: orphanet_rare {source="Orphanet:3337"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fanconi renotubular syndrome 1" NARROW [MONDO:Lexical, OMIM:134600]
synonym: "FRTS1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:134600]
synonym: "primary Fanconi renotubular syndrome" NARROW [Orphanet:3337]
xref: GARD:9118 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:3337/inclusion", source="Orphanet:3337", source="Orphanet:3337/ntbt"}
xref: MEDGEN:341765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123229 {source="MONDO:equivalentTo"}
xref: Orphanet:3337 {source="MONDO:equivalentTo", source="OMIM:134600"}
xref: UMLS:C1857395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341765"}
is_a: MONDO:0002254 {source="MONDO:0007600/inferred", source="NCIT:C123229"} ! syndromic disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:3337"} ! inherited renal tubular disease
is_a: MONDO:0100238 {source="DC-OMIM:134600", source="OMIM:134600"} ! inherited Fanconi renotubular syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3113" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome" xsd:anyURI {source="GARD:0009118"}

[Term]
id: MONDO:0007601
name: familial Mediterranean fever, autosomal dominant
subset: gard_rare {source="GARD:15069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial Mediterranean fever, AD" EXACT [OMIM:134610, OMIM:genemap2]
synonym: "familial Mediterranean fever, autosomal dominant" EXACT CLINGEN_LABEL [OMIM:134610]
synonym: "Fmf, autosomal dominant" RELATED [OMIM:134610]
xref: GARD:15069 {source="MONDO:GARD"}
xref: MEDGEN:341987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565021 {source="MONDO:equivalentTo"}
xref: OMIM:134610 {source="MONDO:equivalentTo"}
xref: Orphanet:342 {source="OMIM:134610"}
xref: UMLS:C1851347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341987"}
is_a: MONDO:0018088 {source="DC-OMIM:134610", source="MESH:C565021"} ! familial Mediterranean fever
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6998 {source="MONDO:mim2gene_medgen"} ! MEFV
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007602
name: obsolete favism, susceptibility to
subset: predisposition
synonym: "favism, susceptibility to" EXACT [OMIM:134700]
synonym: "moved to {300908}" RELATED [OMIM:134700]
xref: OMIM:134700 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:362 {source="OMIM:134700"}
is_obsolete: true
consider: MONDO:0010480

[Term]
id: MONDO:0007603
name: Felty syndrome
def: "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." [Orphanet:47612]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'hematologic disorder' (MONDO:0005570) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:8234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1135"}
subset: ordo_disorder {source="Orphanet:47612"}
subset: orphanet_rare {source="Orphanet:47612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial Felty's syndrome" RELATED [GARD:0008234]
synonym: "Felty syndrome" EXACT [DOID:11042, OMIM:134750]
synonym: "Felty's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [DOID:11042]
synonym: "rheumatoid arthritis, splenomegaly and neutropenia" RELATED [GARD:0008234]
synonym: "splenomegaly-neutropenia-rheumatoid arthritis syndrome" EXACT [Orphanet:47612]
xref: DOID:11042 {source="EFO:0007269", source="MONDO:equivalentTo"}
xref: EFO:0007269 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8234 {source="MONDO:GARD"}
xref: ICD10CM:M05.0 {source="Orphanet:47612", source="Orphanet:47612/ntbt", source="DOID:11042"}
xref: ICD10CM:M05.00 {source="DOID:11042"}
xref: ICD9:714.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11042"}
xref: MedDRA:10016386 {source="Orphanet:47612", source="Orphanet:47612/e"}
xref: MEDGEN:4674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005258 {source="EFO:0007269", source="Orphanet:47612", source="MONDO:equivalentTo", source="Orphanet:47612/e", source="DOID:11042"}
xref: NCIT:C84712 {source="MONDO:equivalentTo", source="DOID:11042"}
xref: NORD:1135 {source="MONDO:NORD"}
xref: OMIM:134750 {source="Orphanet:47612", source="MONDO:equivalentTo", source="Orphanet:47612/e", source="DOID:11042"}
xref: Orphanet:47612 {source="MONDO:equivalentTo", source="OMIM:134750"}
xref: SCTID:156482001 {source="DOID:11042"}
xref: SCTID:57160007 {source="MONDO:equivalentTo", source="DOID:11042"}
xref: UMLS:C0015773 {source="MEDGEN:4674", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:11042", source="NCIT:C84712", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005554 {source="MONDO:Redundant", source="Orphanet:47612"} ! rheumatic disorder
is_a: MONDO:0008383 {source="EFO:0007269", source="MESH:D005258"} ! rheumatoid arthritis
relationship: disease_has_feature HP:0001882 {source="MONDO:Wikidata"} ! Leukopenia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8234/feltys-syndrome" xsd:anyURI {source="GARD:0008234"}

[Term]
id: MONDO:0007604
name: femoral-facial syndrome
def: "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." [Orphanet:1988]
subset: gard_rare {source="GARD:61", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1136"}
subset: ordo_disorder {source="Orphanet:1988"}
subset: ordo_malformation_syndrome {source="Orphanet:1988"}
subset: orphanet_rare {source="Orphanet:1988"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "femoral dysgenesis, bilateral" RELATED [GARD:0000061]
synonym: "Femoral Facial Syndrome" EXACT [NORD:1136]
synonym: "femoral facial syndrome" EXACT [GARD:0000061]
synonym: "femoral hypoplasia unusual facies syndrome" RELATED [GARD:0000061]
synonym: "femoral hypoplasia-unusual facies syndrome" EXACT [OMIM:134780, Orphanet:1988]
synonym: "femoral-facial syndrome" EXACT [MONDO:Lexical, OMIM:134780]
synonym: "FFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:134780, Orphanet:1988]
synonym: "FHUFS" EXACT ABBREVIATION [Orphanet:1988]
xref: GARD:61 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1988/attributed", source="Orphanet:1988/ntbt", source="Orphanet:1988"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537916 {source="Orphanet:1988/e", source="MONDO:equivalentTo", source="Orphanet:1988"}
xref: NORD:1136 {source="MONDO:NORD"}
xref: OMIM:134780 {source="Orphanet:1988/e", source="MONDO:equivalentTo", source="Orphanet:1988"}
xref: Orphanet:1988 {source="OMIM:134780", source="MONDO:equivalentTo"}
xref: SCTID:13280000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120523"}
is_a: MONDO:0015161 {source="Orphanet:1988"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome" xsd:anyURI {source="GARD:0000061"}

[Term]
id: MONDO:0007605
name: fibrinolytic defect
synonym: "fibrinolytic defect" EXACT [OMIM:134900]
xref: MEDGEN:338221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565017 {source="MONDO:equivalentTo"}
xref: OMIM:134900 {source="MONDO:equivalentTo"}
xref: UMLS:C1851184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338221"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007606
name: fibrodysplasia ossificans progressiva
def: "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." [Orphanet:337]
subset: gard_rare {source="GARD:6445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1143"}
subset: ordo_disorder {source="Orphanet:337"}
subset: orphanet_rare {source="Orphanet:337"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibrodysplasia ossificans progressiva" EXACT [MONDO:Lexical, OMIM:135100]
synonym: "fop" EXACT [MONDO:Lexical, OMIM:135100, Orphanet:337]
synonym: "myositis ossificans progressiva" RELATED [DOID:13374, Orphanet:337]
synonym: "progressive myositis ossificans" EXACT [DOID:13374, ICD9CM:728.11]
synonym: "progressive ossifying myositis" EXACT [DOID:13374]
synonym: "Stone Man syndrome" EXACT [DOID:13374]
synonym: "Stone man syndrome" EXACT [Orphanet:337]
xref: DOID:13374 {source="MONDO:equivalentTo"}
xref: GARD:6445 {source="MONDO:GARD"}
xref: ICD10CM:M61.1 {source="Orphanet:337", source="DOID:13374", source="Orphanet:337/e", source="Orphanet:337/specific"}
xref: ICD10CM:M61.10 {source="DOID:13374"}
xref: icd11.foundation:2102976705 {source="Orphanet:337", source="MONDO:equivalentTo"}
xref: ICD9:728.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13374"}
xref: MedDRA:10068715 {source="Orphanet:337", source="Orphanet:337/e"}
xref: MEDGEN:4698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009221 {source="Orphanet:337", source="MONDO:relatedTo", source="DOID:13374", source="Orphanet:337/e"}
xref: NANDO:1200871 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201020 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3040 {source="MONDO:equivalentTo", source="DOID:13374"}
xref: NORD:1143 {source="MONDO:NORD"}
xref: OMIM:135100 {source="Orphanet:337", source="MONDO:equivalentTo", source="DOID:13374", source="Orphanet:337/e"}
xref: Orphanet:337 {source="OMIM:135100", source="MONDO:equivalentTo"}
xref: SCTID:205527009 {source="DOID:13374"}
xref: SCTID:240121004 {source="DOID:13374"}
xref: SCTID:82725007 {source="MONDO:equivalentTo", source="DOID:13374"}
xref: UMLS:C0016037 {source="MONDO:equivalentTo", source="MEDGEN:4698", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="NCIT:C3040", source="Orphanet:337/inferred"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0019296 {source="Orphanet:337"} ! subcutaneous tissue disorder
relationship: excluded_subClassOf MONDO:0018231 {source="Orphanet:337", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/171 {source="MONDO:mim2gene_medgen"} ! ACVR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0007607
name: obsolete Birt-Hogg-Dube syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "Birt-Hogg-Dubé Syndrome" EXACT [NORD:858]
xref: GARD:2322 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6518" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true
consider: MONDO:0800444
consider: MONDO:0800445

[Term]
id: MONDO:0007608
name: desmoid tumor
def: "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." [Orphanet:873]
subset: gard_rare {source="GARD:1820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1049"}
subset: ordo_disorder {source="Orphanet:873"}
subset: orphanet_rare {source="Orphanet:873"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aggressive fibromatosis" EXACT [NCIT:C9182, Orphanet:873]
synonym: "deep fibromatosis" EXACT [NCIT:C9182]
synonym: "deep fibromatosis/desmoid tumor" EXACT [NCIT:C9182]
synonym: "deep fibromatosis/desmoid tumour" EXACT OMO:0003005 []
synonym: "desmoid disease, hereditary" RELATED [OMIM:135290]
synonym: "desmoid disorder, hereditary" RELATED [GARD:0001820]
synonym: "desmoid fibromatosis" EXACT [NCIT:C9182]
synonym: "desmoid tumor" EXACT [NCIT:C9182]
synonym: "desmoid type fibromatosis" EXACT [Orphanet:873]
synonym: "desmoid-type fibromatosis" EXACT [NCIT:C9182]
synonym: "desmoid/aggressive fibromatosis" RELATED [ONCOTREE:DES]
synonym: "familial infiltrative fibromatosis" RELATED [GARD:0001820]
synonym: "fibromatosis, familial infiltrative" RELATED [OMIM:135290]
synonym: "FIF" RELATED ABBREVIATION [GARD:0001820]
xref: DOID:0080366 {source="MONDO:equivalentTo"}
xref: EFO:0009907 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:1820 {source="MONDO:GARD"}
xref: ICD10CM:D48.1 {source="Orphanet:873", source="Orphanet:873/ntbt"}
xref: ICDO:8821/1 {source="NCIT:C9182"}
xref: MEDGEN:38187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9182 {source="MONDO:equivalentTo"}
xref: NORD:1049 {source="MONDO:NORD"}
xref: OMIM:135290 {source="Orphanet:873/btnt", source="MONDO:equivalentTo"}
xref: ONCOTREE:DES {source="MONDO:equivalentTo"}
xref: Orphanet:873 {source="MONDO:equivalentTo"}
xref: UMLS:C0079218 {source="MEDGEN:38187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005031 {source="MONDO:Redundant", source="NCIT:C9182"} ! fibromatosis
is_a: MONDO:0006424 {source="Orphanet:873"} ! soft tissue neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 {source="MONDO:mim2gene_medgen"} ! APC

[Term]
id: MONDO:0007609
name: fibromatosis, gingival, 1
def: "Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:6509", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibromatosis gingival, hereditary, 1" RELATED [GARD:0006509]
synonym: "fibromatosis, gingival, 1" EXACT [MONDO:Lexical, OMIM:135300]
synonym: "fibromatosis, gingival, hereditary" RELATED [OMIM:135300]
synonym: "fibromatosis, gingival, type 1" EXACT [MONDORULE:1, OMIM:135300]
synonym: "GGF1" RELATED ABBREVIATION [OMIM:135300]
synonym: "GINGF" RELATED ABBREVIATION [OMIM:135300]
synonym: "GINGF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135300]
synonym: "gingival fibromatosis caused by mutation in SOS1" EXACT [MONDO:design_pattern]
synonym: "gingival fibromatosis, 1" RELATED [GARD:0006509]
synonym: "hereditary gingival fibromatosis caused by mutation in SOS1" EXACT []
synonym: "hereditary gingival fibromatosis, 1" RELATED [GARD:0006509]
synonym: "HGF1" RELATED ABBREVIATION [GARD:0006509]
synonym: "SOS1 gingival fibromatosis" EXACT [MONDO:design_pattern]
synonym: "SOS1 hereditary gingival fibromatosis" EXACT [MONDO:patterns/disease_series_by_gene]
xref: GARD:6509 {source="MONDO:GARD"}
xref: MEDGEN:1647111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:135300 {source="MONDO:equivalentTo"}
xref: Orphanet:2024 {source="OMIM:135300"}
xref: UMLS:C4551558 {source="MEDGEN:1647111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016070 {source="DC-OMIM:135300", source="MONDO:Redundant", source="OMIM:135300"} ! hereditary gingival fibromatosis
intersection_of: MONDO:0016070 ! hereditary gingival fibromatosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11187 ! SOS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11187 {source="MONDO:mim2gene_medgen"} ! SOS1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6509/gingival-fibromatosis-1" xsd:anyURI {source="GARD:0006509"}

[Term]
id: MONDO:0007610
name: gingival fibromatosis-hypertrichosis syndrome
def: "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." [Orphanet:2026]
subset: gard_rare {source="GARD:2324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2026"}
subset: ordo_malformation_syndrome {source="Orphanet:2026"}
subset: orphanet_rare {source="Orphanet:2026"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CGHT" EXACT ABBREVIATION [Orphanet:2026]
synonym: "chromosome 17Q24.2-q24.3 deletion syndrome" RELATED [OMIM:135400]
synonym: "chromosome 17Q24.2-q24.3 Duplication syndrome" RELATED [OMIM:135400]
synonym: "congenital generalised hypertrichosis terminalis" EXACT OMO:0003005 []
synonym: "congenital generalized hypertrichosis terminalis" EXACT [Orphanet:2026]
synonym: "extreme hirsutism with gingival fibromatosis" RELATED [GARD:0002324]
synonym: "fibromatosis, gingival, with hypertrichosis" RELATED [OMIM:135400]
synonym: "gingival fibromatosis with hypertrichosis" RELATED [GARD:0002324]
synonym: "hereditary gingival fibromatosis with hypertrichosis" RELATED [GARD:0002324]
synonym: "hirsutism-congenital gingival hyperplasia syndrome" EXACT [Orphanet:2026]
synonym: "HTC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135400]
synonym: "hypertrichosis terminalis, generalized, with gingival hyperplasia" RELATED [GARD:0002324]
synonym: "hypertrichosis terminalis, generalized, with or without gingival hyperplasia" RELATED [OMIM:135400]
synonym: "hypertrichosis with or without gingival hyperplasia" EXACT [Orphanet:2026]
synonym: "hypertrichosis, congenital generalized, with gingival hyperplasia" EXACT [OMIM:135400, OMIM:genemap2]
synonym: "hypertrichosis, congenital generalized, with or without gingival hyperplasia" RELATED [MONDO:Lexical, OMIM:135400]
synonym: "microdeletion 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400]
synonym: "microduplication 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400]
xref: GARD:2324 {source="MONDO:GARD"}
xref: ICD10CM:L68.8 {source="Orphanet:2026/attributed", source="Orphanet:2026/ntbt", source="Orphanet:2026"}
xref: MEDGEN:342675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565016 {source="MONDO:equivalentTo"}
xref: OMIM:135400 {source="GARD:0002324", source="Orphanet:2026", source="MONDO:equivalentTo", source="Orphanet:2026/e"}
xref: Orphanet:2026 {source="GARD:0002324", source="MONDO:equivalentTo", source="OMIM:135400"}
xref: SCTID:716008002 {source="MONDO:equivalentTo"}
xref: UMLS:C1851120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342675"}
is_a: MONDO:0019280 {source="DC-OMIM:135400", source="MESH:C565016", source="Orphanet:2026"} ! hypertrichosis
is_a: MONDO:0019287 {source="Orphanet:2026"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis" xsd:anyURI {source="GARD:0002324"}

[Term]
id: MONDO:0007611
name: obsolete Zimmermann-Laband syndrome
is_obsolete: true
replaced_by: MONDO:0000200

[Term]
id: MONDO:0007612
name: gingival fibromatosis-progressive deafness syndrome
def: "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait." [Orphanet:2027]
subset: gard_rare {source="GARD:3056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2027"}
subset: ordo_malformation_syndrome {source="Orphanet:2027"}
subset: orphanet_rare {source="Orphanet:2027"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial gingival fibromatosis associated with progressive deafness" RELATED [GARD:0003056]
synonym: "fibromatosis, gingival, with progressive deafness" RELATED [OMIM:135550]
synonym: "GFD" RELATED ABBREVIATION [GARD:0003056]
synonym: "gingival fibromatosis with progressive deafness" RELATED [GARD:0003056]
synonym: "gingival fibromatosis with sensorineural hearing loss" RELATED [OMIM:135550]
synonym: "Jones syndrome" EXACT [OMIM:135550, Orphanet:2027]
xref: GARD:3056 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="Orphanet:2027/attributed", source="Orphanet:2027/ntbt", source="Orphanet:2027"}
xref: MEDGEN:341928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535886 {source="MONDO:equivalentTo"}
xref: OMIM:135550 {source="Orphanet:2027", source="MONDO:equivalentTo", source="Orphanet:2027/e"}
xref: Orphanet:2027 {source="OMIM:135550", source="MONDO:equivalentTo"}
xref: SCTID:722449007 {source="MONDO:equivalentTo"}
xref: UMLS:C1851112 {source="MEDGEN:341928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2027", source="Orphanet:2027/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0007613
name: obsolete fibromuscular dysplasia of arteries
is_obsolete: true
replaced_by: MONDO:0006761

[Term]
id: MONDO:0007614
name: congenital fibrosis of extraocular muscles
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:997"}
subset: ordo_disorder {source="Orphanet:45358"}
subset: orphanet_rare {source="Orphanet:45358"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700]
synonym: "CFEOM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135700]
synonym: "Congenital Fibrosis of the Extraocular Muscles" EXACT [NORD:997]
synonym: "congenital fibrosis of the extraocular muscles" EXACT [MONDO:0000869]
synonym: "FEOM" EXACT ABBREVIATION [Orphanet:45358]
synonym: "Feom1 locus" RELATED [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital" EXACT [OMIMPS:135700]
synonym: "fibrosis of extraocular muscles, congenital, 1" RELATED [MONDO:Lexical, OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, type 1" EXACT [MONDORULE:1, OMIM:135700]
synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700]
synonym: "Tukel syndrome" NARROW [DOID:0080143]
xref: DOID:0080143 {source="MONDO:equivalentTo"}
xref: GARD:12590 {source="MONDO:GARD"}
xref: ICD10CM:H49.8 {source="Orphanet:45358", source="Orphanet:45358/attributed", source="Orphanet:45358/ntbt"}
xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:724506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:997 {source="MONDO:NORD"}
xref: OMIMPS:135700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:45358 {source="MONDO:equivalentTo", source="OMIM:135700"}
xref: SCTID:400946004 {source="MONDO:equivalentTo"}
xref: UMLS:C1302995 {source="MEDGEN:724506", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001584 {source="DOID:0080143"} ! ocular motility disease
is_a: MONDO:0016106 {source="Orphanet:45358"} ! progressive muscular dystrophy
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: disease_has_location UBERON:0001601 ! extra-ocular muscle
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:135700"} ! inherited

[Term]
id: MONDO:0007615
name: laurin-Sandrow syndrome
def: "Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." [Orphanet:2378]
subset: gard_rare {source="GARD:155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2378"}
subset: ordo_malformation_syndrome {source="Orphanet:2378"}
subset: orphanet_rare {source="Orphanet:2378"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibula and ulna, Duplication of, with absence of tibia and radius" RELATED [OMIM:135750]
synonym: "fibula ulna duplication tibia radius absence" RELATED [GARD:0000155]
synonym: "laurin Sandrow syndrome" RELATED [GARD:0000155]
synonym: "laurin-Sandrow syndrome" EXACT [MONDO:Lexical, OMIM:135750]
synonym: "laurin-Sandrow syndrome, segmental" RELATED [OMIM:135750]
synonym: "LSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135750]
synonym: "mirror hands and feet with nasal defects" RELATED [OMIM:135750]
synonym: "mirror hands and feets-nasal defects syndrome" EXACT [Orphanet:2378]
synonym: "mirror-Image polydactyly" RELATED [OMIM:135750]
synonym: "Sandrow syndrome" EXACT [OMIM:135750, Orphanet:2378]
synonym: "tetramelic mirror-Image polydactyly" RELATED [OMIM:135750]
xref: DOID:0111350 {source="MONDO:equivalentTo"}
xref: GARD:155 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2378/attributed", source="Orphanet:2378/ntbt", source="Orphanet:2378"}
xref: MEDGEN:340697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535689 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"}
xref: OMIM:135750 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"}
xref: Orphanet:2378 {source="MONDO:equivalentTo", source="OMIM:135750"}
xref: SCTID:715440003 {source="MONDO:equivalentTo"}
xref: UMLS:C1851100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340697"}
is_a: MONDO:0019054 {source="Orphanet:2378"} ! congenital limb malformation
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome" xsd:anyURI {source="GARD:0000155"}

[Term]
id: MONDO:0007616
name: fibula, recurrent dislocation of head of
synonym: "fibula, recurrent dislocation of head of" EXACT [OMIM:135800]
xref: MEDGEN:338206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565011 {source="MONDO:equivalentTo"}
xref: OMIM:135800 {source="MONDO:equivalentTo"}
xref: UMLS:C1851099 {source="MEDGEN:338206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007617
name: Coffin-Siris syndrome 1
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene." [MONDO:patterns/OMIM_disease_series_by_gene]
subset: gard_rare {source="GARD:15072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARID1B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
synonym: "autosomal dominant mental retardation 12" EXACT DEPRECATED [DOID:0070042]
synonym: "COFFIN-SIRIS syndrome" RELATED [MONDO:Lexical, OMIM:135900]
synonym: "COFFIN-SIRIS syndrome 1" EXACT [OMIM:135900]
synonym: "Coffin-Siris syndrome 1" EXACT CLINGEN_LABEL []
synonym: "CSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135900]
synonym: "CSS1" EXACT ABBREVIATION [DOID:0070042, OMIM:135900]
synonym: "fifth digit syndrome" BROAD [DOID:0070042, OMIM:135900]
synonym: "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features" EXACT [OMIM:609943]
synonym: "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" EXACT DEPRECATED [OMIM:609943]
synonym: "intellectual disability, autosomal dominant 12" EXACT [MONDO:0013804]
synonym: "mental retardation, autosomal dominant 12" RELATED DEPRECATED [MONDO:Lexical, OMIM:614562]
synonym: "mental retardation, autosomal dominant type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:614562]
synonym: "MRD12" EXACT ABBREVIATION [DOID:0070042, MONDO:Lexical, OMIM:614562]
xref: DOID:0070042 {source="MONDO:equivalentTo"}
xref: GARD:15072 {source="MONDO:GARD"}
xref: MEDGEN:482831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538391 {source="MONDO:equivalentTo"}
xref: OMIM:135900 {source="DOID:0070042", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:609943 {source="MONDO:equivalentObsolete"}
xref: OMIM:614562 {source="MONDO:equivalentObsolete"}
xref: Orphanet:1465 {source="OMIM:614562"}
xref: UMLS:C3281201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482831"}
is_a: MONDO:0015452 {source="DC-OMIM:135900", source="OMIM:135900", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070042", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18040 {source="MONDO:mim2gene_medgen"} ! ARID1B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features" xsd:anyURI {source="GARD:0009945"}

[Term]
id: MONDO:0007618
name: Eng-Strom syndrome
def: "Eng-Strom syndrome is characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant." [Orphanet:1937]
subset: gard_rare {source="GARD:2123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1937"}
subset: ordo_malformation_syndrome {source="Orphanet:1937"}
subset: orphanet_rare {source="Orphanet:1937"}
subset: rare
synonym: "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" RELATED [OMIM:135950]
synonym: "short stature-locking fingers syndrome" EXACT [Orphanet:1937]
xref: GARD:2123 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1937/attributed", source="Orphanet:1937/ntbt", source="Orphanet:1937"}
xref: MEDGEN:338204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:135950 {source="Orphanet:1937/e", source="MONDO:equivalentTo", source="Orphanet:1937"}
xref: Orphanet:1937 {source="MONDO:equivalentTo", source="OMIM:135950"}
xref: UMLS:C1851081 {source="MEDGEN:338204", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:1937", source="Orphanet:1937/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0007619
name: isolated congenital adermatoglyphia
def: "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." [Orphanet:289465]
subset: gard_rare {source="GARD:12550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289465"}
subset: orphanet_rare {source="Orphanet:289465"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absence of fingerprints" BROAD [DOID:0111357, GARD:0012550]
synonym: "ADERM" EXACT ABBREVIATION [DOID:0111357, MONDO:Lexical, OMIM:136000]
synonym: "adermatoglyphia" BROAD [DOID:0111357, MONDO:Lexical, OMIM:136000, OMIM:genemap2]
synonym: "ADG" BROAD ABBREVIATION [DOID:0111357, GARD:0012550]
synonym: "congenital absence of fingerprints" EXACT [DOID:0111357, Orphanet:289465]
synonym: "fingerprints, absence of" BROAD [OMIM:136000]
synonym: "immigration delay disease" EXACT [DOID:0111357, Orphanet:289465]
synonym: "isolated congenital adermatoglyphia" EXACT [DOID:0111357]
xref: DOID:0111357 {source="MONDO:equivalentTo"}
xref: GARD:12550 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:289465/attributed", source="Orphanet:289465/ntbt", source="Orphanet:289465"}
xref: MEDGEN:338875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565010 {source="MONDO:equivalentTo"}
xref: OMIM:136000 {source="Orphanet:289465", source="MONDO:equivalentTo", source="Orphanet:289465/e", source="DOID:0111357"}
xref: Orphanet:289465 {source="OMIM:136000", source="MONDO:equivalentTo", source="DOID:0111357"}
xref: SCTID:763748007 {source="MONDO:equivalentTo"}
xref: UMLS:C1852150 {source="MEDGEN:338875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0111357"} ! autosomal dominant disease
is_a: MONDO:0005093 {source="DOID:0111357"} ! skin disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18398 {source="MONDO:mim2gene_medgen"} ! SMARCAD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007620
name: fish eye disease
def: "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." [Orphanet:79292]
subset: gard_rare {source="GARD:6450", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79292"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-LCAT deficiency" RELATED [OMIM:136120]
synonym: "alpha-lecithin cholesterol acyltransferase deficiency" RELATED [GARD:0006450]
synonym: "alpha-lecithin:cholesterol acyltransferase deficiency" RELATED [OMIM:136120]
synonym: "dyslipoproteinemic corneal dystrophy" RELATED [OMIM:136120]
synonym: "fed" EXACT [MONDO:Lexical, OMIM:136120, Orphanet:79292]
synonym: "fish eye disease" EXACT [MONDO:Lexical, OMIM:136120]
synonym: "fish-eye disease" RELATED [OMIM:136120]
synonym: "LCATA deficiency" RELATED [OMIM:136120]
synonym: "partial LCAT deficiency" EXACT [Orphanet:79292]
xref: GARD:6450 {source="MONDO:GARD"}
xref: ICD10CM:E78.6 {source="Orphanet:79292/attributed", source="Orphanet:79292/ntbt", source="Orphanet:79292"}
xref: MEDGEN:83354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538467 {source="Orphanet:79292", source="Orphanet:79292/e"}
xref: OMIM:136120 {source="Orphanet:79292", source="MONDO:equivalentTo", source="Orphanet:79292/e"}
xref: Orphanet:650 {source="OMIM:136120"}
xref: Orphanet:79292 {source="OMIM:136120", source="MONDO:equivalentTo"}
xref: SCTID:238092004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342895 {source="MEDGEN:83354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018999 {source="Orphanet:79292", source="https://orcid.org/0000-0001-5208-3432"} ! LCAT deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6522 {source="MONDO:mim2gene_medgen"} ! LCAT
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease" xsd:anyURI {source="GARD:0006450"}

[Term]
id: MONDO:0007621
name: Floating-Harbor syndrome
def: "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." [Orphanet:2044]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6455", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1151", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2044"}
subset: ordo_malformation_syndrome {source="Orphanet:2044"}
subset: orphanet_rare {source="Orphanet:2044"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FHS" RELATED ABBREVIATION [GARD:0006455]
synonym: "FLHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136140]
synonym: "Floating Harbor Syndrome" EXACT [NORD:1151]
synonym: "floating-HARBOR syndrome" EXACT [OMIM:136140]
synonym: "floating-Harbor syndrome" EXACT [MONDO:Lexical, OMIM:136140]
synonym: "Pelletier-Leisti syndrome" RELATED [GARD:0006455]
synonym: "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes" RELATED [GARD:0006455]
xref: DOID:0111358 {source="MONDO:equivalentTo"}
xref: GARD:6455 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2044", source="Orphanet:2044/attributed", source="Orphanet:2044/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:152667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537062 {source="Orphanet:2044", source="MONDO:equivalentTo", source="Orphanet:2044/e"}
xref: NCIT:C175241 {source="MONDO:equivalentTo"}
xref: NORD:1151 {source="MONDO:NORD"}
xref: OMIM:136140 {source="Orphanet:2044", source="MONDO:equivalentTo", source="Orphanet:2044/e"}
xref: Orphanet:2044 {source="OMIM:136140", source="MONDO:equivalentTo"}
xref: SCTID:312214005 {source="MONDO:equivalentTo"}
xref: UMLS:C0729582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152667"}
is_a: MONDO:0015159 {source="Orphanet:2044"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2044", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16974 {source="MONDO:mim2gene_medgen"} ! SRCAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome" xsd:anyURI {source="GARD:0006455"}

[Term]
id: MONDO:0007622
name: obsolete flood factor deficiency
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "flood factor deficiency" EXACT [OMIM:136150]
xref: MESH:C565009 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:136150 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007623
name: flushing of ears and somnolence
synonym: "flushing of ears and somnolence" EXACT [OMIM:136200]
xref: MEDGEN:340685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:136200 {source="MONDO:equivalentTo"}
xref: UMLS:C1851055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340685"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007624
name: Flynn-Aird syndrome
def: "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." [https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome]
subset: gard_rare {source="GARD:2347", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2047"}
subset: orphanet_rare {source="Orphanet:2047"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental" RELATED [GARD:0002347]
synonym: "Flynn Aird syndrome" RELATED [GARD:0002347]
synonym: "Flynn-Aird syndrome" EXACT [OMIM:136300]
xref: GARD:2347 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2047", source="Orphanet:2047/attributed", source="Orphanet:2047/ntbt"}
xref: MEDGEN:91009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537066 {source="Orphanet:2047", source="MONDO:equivalentTo", source="Orphanet:2047/e"}
xref: OMIM:136300 {source="Orphanet:2047", source="MONDO:equivalentTo", source="Orphanet:2047/e"}
xref: Orphanet:2047 {source="MONDO:equivalentTo", source="OMIM:136300"}
xref: SCTID:239056006 {source="MONDO:equivalentTo"}
xref: UMLS:C0343108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91009"}
is_a: MONDO:0000426 {source="https://orcid.org/0000-0002-2825-0621"} ! autosomal dominant disease
is_a: MONDO:0019303 {source="Orphanet:2047"} ! premature aging syndrome
relationship: excluded_subClassOf MONDO:0019117 {source="Orphanet:2047", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic nervous system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome" xsd:anyURI {source="GARD:0002347"}

[Term]
id: MONDO:0007625
name: focal epithelial hyperplasia of the oral mucosa
synonym: "focal epithelial hyperplasia of the oral mucosa" EXACT [OMIM:136400]
xref: MEDGEN:340674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565008 {source="MONDO:equivalentTo"}
xref: OMIM:136400 {source="MONDO:equivalentTo"}
xref: UMLS:C1851009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340674"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007626
name: familial congenital palsy of trochlear nerve
def: "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:10355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91498"}
subset: orphanet_rare {source="Orphanet:91498"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fourth cranial nerve palsy, familial congenital" RELATED [OMIM:136480]
synonym: "hereditary fourth cranial nerve palsy" EXACT [MONDO:patterns/hereditary]
synonym: "strabismus from Superior oblique palsy" RELATED [OMIM:136480]
synonym: "superior oblique oculomotor palsy, familial congenital" RELATED [OMIM:136480]
synonym: "trochlear nerve palsy, familial congenital" RELATED [OMIM:136480]
xref: GARD:10355 {source="MONDO:GARD"}
xref: ICD10CM:H49.1 {source="Orphanet:91498", source="Orphanet:91498/attributed", source="Orphanet:91498/ntbt"}
xref: MEDGEN:338185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565007 {source="MONDO:equivalentTo"}
xref: OMIM:136480 {source="MONDO:equivalentTo", source="Orphanet:91498", source="Orphanet:91498/e"}
xref: Orphanet:91498 {source="MONDO:equivalentTo", source="OMIM:136480"}
xref: UMLS:C1850996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338185"}
is_a: MONDO:0015083 {source="Orphanet:91498", source="Orphanet:91498/inferred"} ! nuclear oculomotor paralysis
intersection_of: MONDO:0001146 ! fourth cranial nerve palsy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve" xsd:anyURI {source="GARD:0010355"}

[Term]
id: MONDO:0007627
name: focal facial dermal dysplasia type I
def: "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." [Orphanet:79133]
subset: gard_rare {source="GARD:16524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79133"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bitemporal aplasia cutis congenita" EXACT [Orphanet:79133]
synonym: "Brauer syndrome" EXACT [Orphanet:79133]
synonym: "FFDD type I" EXACT [Orphanet:79133]
synonym: "FFDD, type 1" RELATED [GARD:0008416]
synonym: "FFDD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:136500, Orphanet:79133]
synonym: "focal facial dermal dysplasia 1, Brauer type" EXACT [MONDO:Lexical, OMIM:136500, Orphanet:79133]
synonym: "focal facial dermal dysplasia type 1" EXACT [Orphanet:79133]
synonym: "hereditary symmetrical aplastic nevi of temples" RELATED [OMIM:136500]
xref: GARD:16524 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:79133", source="Orphanet:79133/attributed", source="Orphanet:79133/ntbt"}
xref: MEDGEN:1718224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536385 {source="Orphanet:79133/e", source="Orphanet:79133"}
xref: MESH:C537068 {source="Orphanet:79133/e", source="Orphanet:79133"}
xref: OMIM:136500 {source="Orphanet:79133/e", source="MONDO:equivalentTo", source="Orphanet:79133"}
xref: Orphanet:398166 {source="OMIM:136500"}
xref: Orphanet:79133 {source="MONDO:equivalentTo", source="OMIM:136500"}
xref: UMLS:C5235196 {source="MEDGEN:1718224", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018363 {source="OMIM:136500", source="Orphanet:398166/btnt", source="Orphanet:79133"} ! focal facial dermal dysplasia

[Term]
id: MONDO:0007628
name: foveal hypoplasia 1
def: "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "foveal hypoplasia 1" EXACT [MONDO:Lexical, OMIM:136520]
synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" RELATED [OMIM:136520]
synonym: "foveal hypoplasia caused by mutation in PAX6" EXACT [MONDO:design_pattern]
synonym: "foveal hypoplasia type 1" EXACT [MONDORULE:1, OMIM:136520]
synonym: "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" RELATED [GARD:0000406]
synonym: "foveal hypoplasia, presenile cataract" RELATED [GARD:0000406]
synonym: "FVH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136520]
synonym: "O Donnell Pappas syndrome" RELATED [GARD:0000406]
synonym: "PAX6 foveal hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070530 {source="MONDO:equivalentTo"}
xref: MEDGEN:811934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:136520 {source="MONDO:equivalentTo"}
xref: Orphanet:2253 {source="MONDO:relatedTo", source="OMIM:136520"}
xref: UMLS:C3805604 {source="MEDGEN:811934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0044203 {source="MONDO:Redundant", source="OMIM:136520"} ! foveal hypoplasia
is_a: MONDO:0800183 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PAX6-related ocular dysgenesis
intersection_of: MONDO:0044203 ! foveal hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 ! PAX6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6

[Term]
id: MONDO:0007629
name: fragile site 10Q23
synonym: "fragile site 10Q23" EXACT [OMIM:136540]
synonym: "fragile site type 10Q23" EXACT [MONDORULE:7, OMIM:136540]
xref: MEDGEN:338183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:136540 {source="MONDO:equivalentTo"}
xref: UMLS:C1850987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338183"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007630
name: North Carolina macular dystrophy
def: "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." [Orphanet:75327]
comment: OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC.
subset: gard_rare {source="GARD:9179", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75327"}
subset: orphanet_rare {source="Orphanet:75327"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAPE dystrophy" EXACT [Orphanet:75327]
synonym: "caped" EXACT [Orphanet:75327]
synonym: "central areolar pigment epithelial dystrophy" EXACT [OMIM:136550, Orphanet:75327]
synonym: "central retinal pigment epithelial dystrophy" EXACT [Orphanet:75327]
synonym: "foveal dystrophy progressive" RELATED [GARD:0009179]
synonym: "foveal dystrophy, progressive" RELATED [OMIM:136550]
synonym: "foveal dystrophy, progressive, formerly" RELATED [OMIM:136550]
synonym: "macular dystrophy 1, North Carolina type" EXACT [OMIM:136550, OMIM:genemap2]
synonym: "macular dystrophy retinal 1 North Carolina type" RELATED [GARD:0009179]
synonym: "macular dystrophy, retinal, 1, NORTH Carolina type" RELATED [MONDO:Lexical, OMIM:136550]
synonym: "MCDR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:136550, Orphanet:75327]
synonym: "NCMD" EXACT ABBREVIATION [Orphanet:75327]
synonym: "North Carolina macular dystrophy" EXACT [OMIM:136550]
synonym: "North Carolina macular dystrophy, retinal 1" EXACT [Orphanet:75327]
synonym: "progressive foveal dystrophy" EXACT [Orphanet:75327]
synonym: "retinal pigment epithelial dystrophy central" RELATED [GARD:0009179]
synonym: "retinal pigment epithelial dystrophy, central" RELATED [OMIM:136550]
xref: DOID:0070439 {source="MONDO:equivalentTo"}
xref: GARD:9179 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75327", source="Orphanet:75327/attributed", source="Orphanet:75327/ntbt"}
xref: MEDGEN:147590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537835 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"}
xref: OMIM:136550 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"}
xref: Orphanet:75327 {source="OMIM:136550", source="MONDO:equivalentTo"}
xref: SCTID:312925009 {source="MONDO:equivalentTo"}
xref: UMLS:C0730294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:147590"}
is_a: MONDO:0031166 {source="MONDO:0020243-obsoleted", source="OMIM:136550", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! macular dystrophy, retinal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy" xsd:anyURI {source="GARD:0009179"}

[Term]
id: MONDO:0007631
name: chromosome 16p12.1 deletion syndrome, 520kb
def: "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects." [NCIT:C129875]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 16p12.1 deletion syndrome" EXACT [NCIT:C129875]
synonym: "chromosome 16p12.1 deletion syndrome, 520-KB" RELATED [OMIM:136570]
synonym: "chromosome 16p12.1 deletion syndrome, type 520kb" EXACT [DOID:0060399, MONDORULE:9]
synonym: "fragile site 16P12" RELATED [OMIM:136570]
synonym: "fragile site, Distamycin a type, Rare, fra(16)(p12.1)" RELATED [OMIM:136570]
synonym: "Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)" EXACT [DECIPHER:92]
xref: DECIPHER:92 {source="MONDO:equivalentTo"}
xref: DOID:0060399 {source="MONDO:equivalentTo"}
xref: MEDGEN:460626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565001 {source="MONDO:equivalentTo"}
xref: NCIT:C129875 {source="MONDO:equivalentTo"}
xref: OMIM:136570 {source="DOID:0060399", source="MONDO:equivalentTo"}
xref: UMLS:C3149276 {source="MEDGEN:460626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:136570", source="DOID:0060399"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="NCIT:C129875"} ! syndromic disease
is_a: MONDO:0016894 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 16
relationship: disease_arises_from_structure CHR:9606-chr16p12.1 {source="https://orcid.org/0000-0002-4142-7153"} ! 16p12.1 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3861 {source="MONDO:mim2gene_medgen"} ! FRA16E
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0007632
name: obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)
comment: This is not a disease.
synonym: "FRA16B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136580]
synonym: "fragile site 16Q22" RELATED [OMIM:136580]
synonym: "fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1)" RELATED [OMIM:136580]
synonym: "fragile site, Distamycin a type, rare, fra(16)(q22.1)" EXACT [MONDO:Lexical, OMIM:136580]
xref: OMIM:136580 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002399

[Term]
id: MONDO:0007633
name: Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness
synonym: "Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness" EXACT [OMIM:136600]
xref: MEDGEN:376920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564999 {source="MONDO:equivalentTo"}
xref: OMIM:136600 {source="MONDO:equivalentTo"}
xref: UMLS:C1850982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376920"}
is_a: MONDO:0003847 {source="MESH:C564999/inferred"} ! hereditary disease

[Term]
id: MONDO:0007634
name: intellectual disability, FRA12A type
subset: otar {source="MONDO:OTAR"}
synonym: "intellectual disability, FRA12A type" EXACT [OMIM:136630]
synonym: "mental retardation, FRA12A type" RELATED DEPRECATED [OMIM:136630]
xref: MEDGEN:369613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566980 {source="MONDO:equivalentTo"}
xref: OMIM:136630 {source="MONDO:equivalentTo"}
xref: UMLS:C1969893 {source="MEDGEN:369613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566980/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29284 {source="MONDO:mim2gene_medgen"} ! DIP2B

[Term]
id: MONDO:0007635
name: Frasier syndrome
def: "Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." [Orphanet:347]
subset: gard_rare {source="GARD:2375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:347"}
subset: orphanet_rare {source="Orphanet:347"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Frasier syndrome" EXACT [OMIM:136680]
synonym: "Frasier syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:136680, OMIM:genemap2]
xref: DOID:0050438 {source="MONDO:equivalentTo"}
xref: GARD:2375 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="Orphanet:347/attributed", source="Orphanet:347/ntbt", source="Orphanet:347"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:215533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052159 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"}
xref: NCIT:C122805 {source="MONDO:equivalentTo", source="DOID:0050438"}
xref: OMIM:136680 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"}
xref: Orphanet:347 {source="OMIM:136680", source="MONDO:equivalentTo"}
xref: SCTID:445431000 {source="MONDO:equivalentTo", source="DOID:0050438"}
xref: UMLS:C0950122 {source="MEDGEN:215533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0050438", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C122805", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0020040 ! 46,XY disorder of sex development
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:136680", source="Orphanet:347"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome" xsd:anyURI {source="GARD:0002375"}

[Term]
id: MONDO:0007636
name: frontorhiny
def: "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." [Orphanet:391474]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391474"}
subset: ordo_malformation_syndrome {source="Orphanet:391474"}
subset: orphanet_rare {source="Orphanet:391474"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALX3-related frontonasal dysplasia" EXACT [Orphanet:391474]
synonym: "FND1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136760]
synonym: "frontonasal dysplasia" RELATED [OMIM:136760]
synonym: "frontonasal dysplasia 1" RELATED [MONDO:Lexical, OMIM:136760]
synonym: "frontonasal dysplasia type 1" EXACT [MONDORULE:1, OMIM:136760]
synonym: "frontonasal malformation" RELATED [OMIM:136760]
synonym: "frontorhiny" EXACT [OMIM:136760]
synonym: "isolated median cleft face syndrome" EXACT [Orphanet:391474]
synonym: "isolated median cleft syndrome" RELATED [GARD:0012642]
synonym: "median Facial cleft syndrome" RELATED [OMIM:136760]
xref: DOID:0081045 {source="MONDO:equivalentTo"}
xref: GARD:12642 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:391474", source="Orphanet:391474/attributed", source="Orphanet:391474/ntbt"}
xref: MEDGEN:1803615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129028 {source="MONDO:equivalentTo"}
xref: OMIM:136760 {source="MONDO:equivalentTo", source="Orphanet:391474", source="Orphanet:391474/e"}
xref: Orphanet:391474 {source="OMIM:136760", source="MONDO:equivalentTo"}
xref: UMLS:C5574965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803615"}
is_a: MONDO:0016643 {source="DC-OMIM:136760", source="OMIM:136760", source="Orphanet:391474"} ! frontonasal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/449 {source="MONDO:mim2gene_medgen"} ! ALX3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007637
name: corneal dystrophy, Fuchs endothelial, 1
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COL8A2 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, Fuchs endothelial, 1" EXACT [MONDO:Lexical, OMIM:136800]
synonym: "corneal dystrophy, Fuchs endothelial, early-onset" RELATED [OMIM:136800]
synonym: "corneal dystrophy, Fuchs endothelial, type 1" EXACT [MONDORULE:1, OMIM:136800]
synonym: "FECD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136800]
synonym: "Fuchs' endothelial dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern]
xref: GARD:18216 {source="MONDO:GARD"}
xref: MEDGEN:338172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535478 {source="MONDO:equivalentTo"}
xref: OMIM:136800 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="OMIM:136800"}
xref: UMLS:C1850959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338172"}
is_a: MONDO:0005321 {source="DC-OMIM:136800", source="MESH:C535478", source="MONDO:Redundant", source="OMIM:136800"} ! Fuchs' endothelial dystrophy
intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2216 ! COL8A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2216 {source="MONDO:mim2gene_medgen"} ! COL8A2

[Term]
id: MONDO:0007638
name: fucosidase regulator
synonym: "Alpha-L-fucosidase regulator" RELATED [OMIM:136830]
synonym: "fucosidase regulator" EXACT [OMIM:136830]
xref: MEDGEN:342631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:136830 {source="MONDO:equivalentTo"}
xref: UMLS:C1850954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342631"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007639
name: fundus albipunctatus
def: "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." [Orphanet:227796]
subset: gard_rare {source="GARD:13809", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:227796"}
subset: orphanet_rare {source="Orphanet:227796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fundus albipunctatus" EXACT [OMIM:136880]
synonym: "pigmentary retinal dystrophy" EXACT [DOID:11105, ICD9CM:362.74]
synonym: "retinitis punctata albescens" BROAD [DOID:11105, OMIM:136880]
xref: DOID:11105 {source="MONDO:equivalentTo"}
xref: GARD:13809 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:227796/attributed", source="Orphanet:227796/ntbt", source="Orphanet:227796"}
xref: ICD10CM:H35.52 {source="DOID:11105"}
xref: ICD9:362.74 {source="DOID:11105", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:362.76 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:86317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562733 {source="DOID:11105", source="MONDO:equivalentTo"}
xref: OMIM:136880 {source="DOID:11105", source="Orphanet:227796/e", source="MONDO:equivalentTo", source="Orphanet:227796"}
xref: Orphanet:227796 {source="OMIM:136880", source="MONDO:equivalentTo"}
xref: Orphanet:52427 {source="OMIM:136880"}
xref: SCTID:68222009 {source="DOID:11105", source="MONDO:equivalentTo"}
xref: UMLS:C0311338 {source="MEDGEN:86317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016420 {source="Orphanet:227796"} ! familial flecked retinopathy
is_a: MONDO:0100443 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH5-related retinopathy
is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy

[Term]
id: MONDO:0007640
name: Sorsby fundus dystrophy
def: "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." [Orphanet:59181]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:59181"}
subset: orphanet_rare {source="Orphanet:59181"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fundus dystrophy, pseudoinflammatory, of Sorsby" RELATED [OMIM:136900]
synonym: "hemorrhagic macular dystrophy" EXACT [DOID:0090114]
synonym: "macular dystrophy, hemorrhagic" RELATED [OMIM:136900]
synonym: "pseudoinflammatory fundus dystrophy of Sorsby" EXACT [DOID:0090114]
synonym: "SFD" EXACT ABBREVIATION [DOID:0090114, MONDO:Lexical, OMIM:136900]
synonym: "Sorsby fundus dystrophy" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:136900]
synonym: "Sorsby pseudoinflammatory fundus dystrophy" RELATED [Orphanet:59181]
synonym: "Sorsby's fundus dystrophy" EXACT [DOID:0090114]
synonym: "Sorsby's pseudoinflammatory macular dystrophy" RELATED [GARD:0010511]
xref: DOID:0090114 {source="MONDO:equivalentTo"}
xref: GARD:16480 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:59181/attributed", source="Orphanet:59181/ntbt", source="Orphanet:59181"}
xref: MEDGEN:338164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564992 {source="MONDO:equivalentTo"}
xref: OMIM:136900 {source="Orphanet:59181", source="MONDO:equivalentTo", source="DOID:0090114", source="Orphanet:59181/e"}
xref: Orphanet:59181 {source="MONDO:equivalentTo", source="OMIM:136900"}
xref: SCTID:193410003 {source="MONDO:equivalentTo"}
xref: UMLS:C1850938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338164"}
is_a: MONDO:0019118 {source="DOID:0090114"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11822 {source="MONDO:mim2gene_medgen"} ! TIMP3

[Term]
id: MONDO:0007641
name: obsolete Futcher line
comment: This should not be classified as a disease. The OMIM refs are from 1938, 1940, and 1975, nothing more recent. The language in the entry is dated.
synonym: "Futcher line" EXACT [OMIM:137000]
synonym: "pigmentary demarcation lines" EXACT []
synonym: "Voigt lines" EXACT []
xref: OMIM:137000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2148" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007642
name: isolated agenesis of gallbladder
subset: gard_rare {source="GARD:21844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440987"}
subset: ordo_morphological_anomaly {source="Orphanet:440987"}
subset: orphanet_rare {source="Orphanet:440987"}
subset: rare
synonym: "gallbladder, agenesis OF" RELATED [OMIM:137040]
xref: GARD:21844 {source="MONDO:GARD"}
xref: ICD10CM:Q44.0 {source="Orphanet:440987/ntbt", source="Orphanet:440987"}
xref: MEDGEN:82736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562564 {source="MONDO:equivalentTo"}
xref: OMIM:137040 {source="MONDO:equivalentTo"}
xref: Orphanet:440987 {source="MONDO:equivalentTo"}
xref: UMLS:C0266251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82736"}
is_a: MONDO:0004868 {source="Orphanet:440987"} ! biliary tract disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare

[Term]
id: MONDO:0007643
name: gamma-A-globulin, defect in assembly of
synonym: "gamma-A-globulin, defect in ASSEMBLY OF" RELATED [OMIM:137050]
synonym: "IgA, defect in Assembly of" RELATED [OMIM:137050]
synonym: "Immunoglobulin A, defect in Assembly of" RELATED [OMIM:137050]
xref: MEDGEN:342627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564991 {source="MONDO:equivalentTo"}
xref: OMIM:137050 {source="MONDO:equivalentTo"}
xref: UMLS:C1850934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342627"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007644
name: IgAD1
def: "Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders." [NCIT:C123434]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "gamma-A-globulin, selective deficiency of" RELATED [OMIM:137100]
synonym: "IgA, selective deficiency of" RELATED [OMIM:137100]
synonym: "IgAD1" EXACT [MONDO:Lexical, OMIM:137100]
synonym: "IMMUNOGLOBULIN A deficiency 1" RELATED [MONDO:Lexical, OMIM:137100]
synonym: "immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases" EXACT [OMIM:137100, OMIM:genemap2]
synonym: "Immunoglobulin A, selective deficiency of" RELATED [OMIM:137100]
xref: MEDGEN:419725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536290 {source="MONDO:equivalentTo"}
xref: NCIT:C123434 {source="MONDO:equivalentTo"}
xref: OMIM:137100 {source="MONDO:equivalentTo"}
xref: Orphanet:69127 {source="OMIM:137100"}
xref: UMLS:C2931161 {source="MEDGEN:419725", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001341 {source="DC-OMIM:137100", source="MESH:C536290"} ! selective IgA deficiency disease
is_a: MONDO:0003739 {source="NCIT:C123434"} ! selective immunoglobulin deficiency disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007645
name: obsolete gastric sneezing
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "gastric sneezing" EXACT [OMIM:137130]
synonym: "stomach sneeze reflex" RELATED [OMIM:137130]
xref: MESH:C564990 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:137130 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007646
name: Gamstorp-Wohlfart syndrome
def: "A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." [https://orcid.org/0000-0001-5208-3432, Orphanet:324442]
subset: gard_rare {source="GARD:12353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324442"}
subset: orphanet_rare {source="Orphanet:324442"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARAN-NM" EXACT [Orphanet:324442]
synonym: "ARCMT2-NM" EXACT [Orphanet:324442]
synonym: "autosomal recessive axonal neuropathy with neuromyotonia" RELATED [Orphanet:324442]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia" EXACT [Orphanet:324442]
synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT [DOID:0050526]
synonym: "Gamstorp-Wohlfart syndrome" EXACT [OMIM:137200]
synonym: "myokymia, myotonia and muscle wasting" EXACT [DOID:0050526]
synonym: "myokymia, myotonia, and muscle wasting" RELATED [OMIM:137200]
synonym: "neuromyotonia and axonal neuropathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:137200]
synonym: "NMAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137200]
xref: DOID:0050526 {source="MONDO:equivalentTo"}
xref: GARD:12353 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:324442/attributed", source="Orphanet:324442/ntbt", source="Orphanet:324442"}
xref: MEDGEN:1814513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:137200 {source="Orphanet:324442/e", source="MONDO:equivalentTo", source="DOID:0050526", source="Orphanet:324442"}
xref: Orphanet:324442 {source="OMIM:137200", source="MONDO:equivalentTo"}
xref: SCTID:711406009 {source="MONDO:equivalentTo"}
xref: UMLS:C5700127 {source="MONDO:equivalentTo", source="MEDGEN:1814513", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0050526"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4912 {source="MONDO:mim2gene_medgen"} ! HINT1

[Term]
id: MONDO:0007647
name: gastric volvulus, intrathoracic
synonym: "gastric volvulus, intrathoracic" EXACT [OMIM:137210]
xref: MEDGEN:338155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564989 {source="MONDO:equivalentTo"}
xref: OMIM:137210 {source="MONDO:equivalentTo"}
xref: UMLS:C1850902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338155"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007648
name: hereditary diffuse gastric adenocarcinoma
def: "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations." [NCIT:C43295]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:26106"}
subset: orphanet_rare {source="Orphanet:26106"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse gastric cancer" RELATED [GARD:0010334]
synonym: "familial diffuse cancer of stomach" EXACT [Orphanet:26106]
synonym: "familial diffuse gastric cancer" EXACT [Orphanet:26106]
synonym: "FDGC" EXACT ABBREVIATION [Orphanet:26106]
synonym: "HDGC" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:26106]
synonym: "hereditary diffuse cancer of stomach" EXACT [Orphanet:26106]
synonym: "hereditary diffuse gastric adenocarcinoma" EXACT CLINGEN_LABEL [MONDO:patterns/hereditary, NCIT:C43295, Orphanet:26106]
synonym: "hereditary diffuse gastric cancer" EXACT [NCIT:C43295]
synonym: "signet cell adenocarcinoma" RELATED [GARD:0010334]
synonym: "signet ring cell gastric carcinoma" RELATED [GARD:0010334]
synonym: "signet ring gastric carcinoma" RELATED [GARD:0010334]
xref: DOID:0080764 {source="MONDO:equivalentTo"}
xref: GARD:10900 {source="MONDO:GARD"}
xref: ICD10CM:C16.9 {source="Orphanet:26106/nd", source="Orphanet:26106/attributed", source="Orphanet:26106"}
xref: MEDGEN:310839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43295 {source="MONDO:equivalentTo"}
xref: Orphanet:26106 {source="MONDO:equivalentTo", source="OMIM:137215"}
xref: SCTID:716859000 {source="MONDO:equivalentTo"}
xref: UMLS:C1708349 {source="MEDGEN:310839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001056 {source="DOID:0080763"} ! gastric cancer
is_a: MONDO:0005017 {source="MONDO:Redundant", source="NCIT:C43295"} ! diffuse gastric adenocarcinoma
is_a: MONDO:0018502 {source="MONDO:Redundant", source="Orphanet:26106"} ! hereditary gastric cancer
intersection_of: MONDO:0005017 ! diffuse gastric adenocarcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5720" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10334/diffuse-gastric-cancer" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer" xsd:anyURI {source="GARD:0010900"}

[Term]
id: MONDO:0007649
name: obsolete gastric juice peptides
synonym: "gastric juice peptides" EXACT [OMIM:137220]
xref: OMIM:137220 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5850" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007650
name: MALT lymphoma
def: "An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)" [NCIT:C3898]
subset: gard_rare {source="GARD:6485", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52417"}
subset: orphanet_rare {source="Orphanet:52417"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Extranodal marginal zone B-cell lymphoma" EXACT [Orphanet:52417]
synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898]
synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)" EXACT [NCIT:C3898]
synonym: "Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898]
synonym: "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)" RELATED [ONCOTREE:EMALT]
synonym: "familial primary gastric lymphoma" RELATED [GARD:0006485]
synonym: "gastric lymphoma, primary" RELATED [OMIM:137245]
synonym: "Immunocytoma" EXACT [NCIT:C3898]
synonym: "lymphoma of mucosa-associated lymphoid tissue" EXACT [MONDO:design_pattern]
synonym: "lymphoma, MALT, somatic" EXACT [OMIM:137245, OMIM:genemap2]
synonym: "lymphoma, mucosa-associated lymphoid type" RELATED [OMIM:137245]
synonym: "MALT lymphoma" EXACT [NCIT:C3898, OMIM:137245]
synonym: "MALT-lymphoma" EXACT [NCIT:C3898]
synonym: "MALToma" EXACT [NCIT:C3898, Orphanet:52417]
synonym: "mucosa-associated lymphatic tissue lymphoma" EXACT [Orphanet:52417]
synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT [DOID:0050909, MONDO:patterns/location, NCIT:C3898, Orphanet:52417]
xref: DOID:0050909 {source="MONDO:equivalentTo", source="EFO:0000191"}
xref: EFO:0000191 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6485 {source="MONDO:GARD"}
xref: ICD10CM:C88.4 {source="Orphanet:52417", source="Orphanet:52417/e"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9699/3 {source="NCIT:C3898"}
xref: MedDRA:10060707 {source="Orphanet:52417", source="Orphanet:52417/e"}
xref: MEDGEN:66942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3898 {source="MONDO:equivalentTo", source="EFO:0000191"}
xref: OMIM:137245 {source="MONDO:equivalentTo", source="Orphanet:52417", source="Orphanet:52417/e"}
xref: ONCOTREE:EMALT {source="MONDO:equivalentTo"}
xref: Orphanet:52417 {source="MONDO:equivalentTo"}
xref: SCTID:277622004 {source="MONDO:equivalentTo"}
xref: UMLS:C0242647 {source="MEDGEN:66942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:MALT_lymphoma {source="EFO:0000191"}
is_a: MONDO:0004949 {source="EFO:0000191", source="NCIT:C3898/inferred", source="ONCOTREE:EMALT/inferred"} ! neoplasm of mature B-cells
is_a: MONDO:0017604 {source="NCIT:C3898", source="ONCOTREE:EMALT", source="Orphanet:52417"} ! marginal zone lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001961 ! mucosa-associated lymphoid tissue
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 {source="MONDO:mim2gene_medgen"} ! BCL10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007651
name: gastrocutaneous syndrome
subset: gard_rare {source="GARD:2438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2069"}
subset: orphanet_rare {source="Orphanet:2069"}
subset: rare
synonym: "gastrocutaneous syndrome" EXACT [OMIM:137270]
synonym: "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" RELATED [OMIM:137270]
xref: GARD:2438 {source="MONDO:GARD"}
xref: MEDGEN:338154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535651 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"}
xref: OMIM:137270 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"}
xref: Orphanet:2069 {source="MONDO:equivalentTo", source="OMIM:137270"}
xref: UMLS:C1850899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338154"}
is_a: MONDO:0019289 {source="Orphanet:2069"} ! hyperpigmentation of the skin
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome" xsd:anyURI {source="GARD:0002438"}

[Term]
id: MONDO:0007652
name: gastric mucosal hypertrophy
def: "A rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss." [https://orcid.org/0000-0001-5208-3432, Orphanet:2494]
subset: gard_rare {source="GARD:2436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1432"}
subset: ordo_disorder {source="Orphanet:2494"}
subset: orphanet_rare {source="Orphanet:2494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial giant hypertrophic gastritis" EXACT [DOID:8757]
synonym: "gastritis, familial giant hypertrophic" RELATED [OMIM:137280]
synonym: "gastroenteropathy, protein losing" RELATED [GARD:0002436]
synonym: "giant hypertrophic gastritis" EXACT [Orphanet:2494]
synonym: "giant hypertrophic gastropathy" RELATED [GARD:0002436]
synonym: "giant hypertrophy of the gastric mucosa" RELATED [GARD:0002436]
synonym: "giant rugal hypertrophy of stomach" EXACT [DOID:8757]
synonym: "hypertrophic gastritis" EXACT [DOID:8757]
synonym: "hypertrophic gastropathy" EXACT [DOID:8757, GARD:0002436]
synonym: "hypoproteinemic hypertrophic gastropathy" EXACT [Orphanet:2494]
synonym: "MENETRIER disease" EXACT [DOID:8757]
synonym: "Menetrier Disease" EXACT [NORD:1432]
synonym: "Menetrier disease" EXACT [OMIM:137280]
synonym: "Menetrier's disease" EXACT [NCIT:C67277]
synonym: "Ménétrier disease" EXACT [NCIT:C67277]
xref: DOID:8757 {source="MONDO:equivalentTo", source="EFO:1000946"}
xref: EFO:1000946 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2436 {source="MONDO:GARD"}
xref: ICD10CM:K29.6 {source="DOID:8757", source="Orphanet:2494/ntbt", source="Orphanet:2494"}
xref: icd11.foundation:1343994188 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:2494"}
xref: ICD9:535.2 {source="DOID:8757", source="EFO:1000946"}
xref: ICD9:535.20 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:535.21 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10017807 {source="Orphanet:2494/e", source="EFO:1000946", source="Orphanet:2494"}
xref: MedDRA:10017868 {source="Orphanet:2494/e", source="Orphanet:2494"}
xref: MEDGEN:4844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005758 {source="DOID:8757", source="MONDO:equivalentTo", source="EFO:1000946"}
xref: NCIT:C67277 {source="DOID:8757", source="MONDO:equivalentTo"}
xref: NORD:1432 {source="MONDO:NORD"}
xref: OMIM:137280 {source="Orphanet:2494/e", source="DOID:8757", source="MONDO:equivalentTo", source="Orphanet:2494"}
xref: Orphanet:2494 {source="MONDO:equivalentTo", source="OMIM:137280"}
xref: SCTID:235665008 {source="DOID:8757"}
xref: SCTID:413219009 {source="DOID:8757"}
xref: SCTID:60002000 {source="DOID:8757", source="MONDO:equivalentTo", source="EFO:1000946"}
xref: UMLS:C0017155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4844"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004966 {source="DOID:8757", source="EFO:1000946", source="MESH:D005758", source="NCIT:C67277"} ! gastritis

[Term]
id: MONDO:0007653
name: genochondromatosis
subset: gard_rare {source="GARD:10621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "genochondromatosis" EXACT [OMIM:137360]
xref: GARD:10621 {source="MONDO:GARD"}
xref: MEDGEN:224887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563215 {source="MONDO:equivalentTo"}
xref: OMIM:137360 {source="MONDO:equivalentTo"}
xref: Orphanet:85197 {source="OMIM:137360"}
xref: Orphanet:93398 {source="OMIM:137360"}
xref: SCTID:389264005 {source="MONDO:equivalentTo"}
xref: UMLS:C1300229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224887"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="MESH:C563215/inferred"} ! hereditary disease
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis" xsd:anyURI {source="GARD:0010621"}

[Term]
id: MONDO:0007654
name: genu valgum, st. Helena familial
synonym: "genu valgum, hereditary pubertal" RELATED [OMIM:137370]
synonym: "genu valgum, st Helena familial" RELATED [GARD:0008429]
synonym: "genu valgum, st. Helena familial" EXACT [OMIM:137370]
synonym: "hereditary pubertal genu valgum" RELATED [GARD:0008429]
synonym: "severe 'knock-knees' and variable lesser malalignment at the elbows and wrists" RELATED [GARD:0008429]
synonym: "St. Helena familial genu valgum" RELATED [GARD:0008429]
xref: MEDGEN:333980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537685 {source="MONDO:equivalentTo"}
xref: OMIM:137370 {source="MONDO:equivalentTo"}
xref: UMLS:C1842052 {source="MEDGEN:333980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8429/genu-valgum-st-helena-familial" xsd:anyURI {source="GARD:0008429"}

[Term]
id: MONDO:0007655
name: fissured tongue
synonym: "congenital fissure of tongue" NARROW [DOID:11514]
synonym: "congenital plicated tongue" NARROW [DOID:11514]
synonym: "ectopic geographic tongue" RELATED [GARD:0006493]
synonym: "erythema migrans" RELATED [GARD:0006493]
synonym: "fissure of tongue" EXACT [DOID:11514]
synonym: "fissure of tongue, congenital" NARROW [DOID:11514, ICD9CM:750.13]
synonym: "Furrowed tongue" EXACT [DOID:11514]
synonym: "geographic and fissured tongue" RELATED [OMIM:137400]
synonym: "geographic tongue and fissured tongue" EXACT [DOID:11514]
synonym: "glossitis, benign migratory" RELATED [OMIM:137400]
synonym: "lingua plicata" EXACT [DOID:11514, OMIM:137400]
synonym: "plicated tongue" EXACT [DOID:11514, ICD9CM:529.5]
synonym: "scrotal tongue" EXACT [DOID:11514, OMIM:137400]
synonym: "tongue, fissured" EXACT [DOID:11514]
xref: DOID:11514 {source="MONDO:equivalentTo"}
xref: ICD10CM:K14.5 {source="DOID:11514", source="MONDO:equivalentTo"}
xref: ICD9:529.5 {source="DOID:11514", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:750.13 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1624209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014063 {source="DOID:11514", source="MONDO:equivalentTo"}
xref: OMIM:137400 {source="DOID:11514", source="MONDO:equivalentTo"}
xref: SCTID:204627005 {source="DOID:11514"}
xref: SCTID:52368004 {source="DOID:11514", source="MONDO:equivalentTo"}
xref: UMLS:C4540616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1624209"}
is_a: MONDO:0001165 {source="DOID:11514", source="MESH:D014063"} ! tongue disorder

[Term]
id: MONDO:0007656
name: Gerstmann-Straussler-Scheinker syndrome
def: "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." [NCIT:P378]
comment: Editor note: MESH considers as two diseases
subset: gard_rare {source="GARD:7690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:356"}
subset: orphanet_rare {source="Orphanet:356"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis cerebral with spongiform encephalopathy" RELATED [GARD:0007690]
synonym: "amyloidosis, cerebral, with spongiform encephalopathy" RELATED [OMIM:137440]
synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" RELATED [OMIM:137440]
synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system" RELATED [GARD:0007690]
synonym: "cerebral amyloid angiopathy, Prnp-related" RELATED [OMIM:137440]
synonym: "encephalopathy subacute spongiform Gerstmann-Straussler type" RELATED [GARD:0007690]
synonym: "encephalopathy, Subacute spongiform, Gerstmann-Straussler type" RELATED [OMIM:137440]
synonym: "Gerstmann Straussler Scheinker syndrome" RELATED [GARD:0007690]
synonym: "Gerstmann-Straussler disease" RELATED [MONDO:Lexical, OMIM:137440]
synonym: "Gerstmann-Straussler-Scheinker disease" EXACT [DOID:4249, OMIM:137440]
synonym: "GSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137440]
synonym: "prion dementia" EXACT [DOID:4249, OMIM:137440]
synonym: "subacute spongiform encephalopathy, Gerstmann-Straussler type" EXACT [Orphanet:356]
xref: DOID:4249 {source="MONDO:equivalentTo"}
xref: GARD:7690 {source="MONDO:GARD"}
xref: ICD10CM:A81.8 {source="Orphanet:356", source="Orphanet:356/attributed", source="Orphanet:356/ntbt"}
xref: ICD10CM:A81.82 {source="MONDO:equivalentTo", source="DOID:4249"}
xref: icd11.foundation:406818835 {source="Orphanet:356", source="MONDO:equivalentTo"}
xref: ICD9:046.71 {source="DOID:4249"}
xref: MedDRA:10072075 {source="Orphanet:356", source="Orphanet:356/e"}
xref: MEDGEN:4886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535800 {source="MONDO:equivalentTo"}
xref: MESH:D016098 {source="Orphanet:356", source="DOID:4249", source="Orphanet:356/e"}
xref: NANDO:1200190 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84727 {source="MONDO:equivalentTo", source="DOID:4249"}
xref: OMIM:137440 {source="Orphanet:356", source="MONDO:equivalentTo", source="DOID:4249", source="Orphanet:356/e"}
xref: Orphanet:356 {source="OMIM:137440", source="MONDO:equivalentTo"}
xref: SCTID:67155006 {source="MONDO:equivalentTo", source="DOID:4249"}
xref: UMLS:C0017495 {source="MEDGEN:4886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005429 {source="DOID:4249", source="MESH:C535800", source="MESH:D016098", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-4142-7153"} ! prion disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007657
name: giant neutrophil leukocytes
synonym: "giant neutrophil leukocytes" EXACT [OMIM:137500]
xref: MEDGEN:330754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:137500 {source="MONDO:equivalentTo"}
xref: UMLS:C1842039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330754"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007658
name: obsolete spitz nevus
def: "OBSOLETE. A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." [Orphanet:626]
comment: Obsoleted as was conflated with congenital melanocytic nevus
is_obsolete: true
replaced_by: MONDO:0044793

[Term]
id: MONDO:0007659
name: obsolete giant platelet syndrome with thrombocytopenia
xref: MESH:C564237 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:137560 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0007954

[Term]
id: MONDO:0007660
name: familial ossifying fibroma
def: "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:17713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435329"}
subset: orphanet_rare {source="Orphanet:435329"}
subset: rare
synonym: "cemental dysplasia, periapical" RELATED [OMIM:137575]
synonym: "Cementomas, familial multiple" RELATED [OMIM:137575]
synonym: "GIGANTIFORM cementoma, familial" RELATED [OMIM:137575]
synonym: "hereditary ossifying fibroma (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "intracortical fibrous dysplasia" RELATED [GARD:0010887]
synonym: "Jaffe-Campanacci syndrome" RELATED [GARD:0010887]
synonym: "multiple ossifying fibroma" EXACT [Orphanet:435329]
xref: GARD:17713 {source="MONDO:GARD"}
xref: ICD10CM:D16.4 {source="Orphanet:435329", source="Orphanet:435329/attributed", source="Orphanet:435329/ntbt"}
xref: MEDGEN:501159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563017 {source="MONDO:equivalentTo"}
xref: OMIM:137575 {source="MONDO:equivalentTo", source="Orphanet:435329", source="Orphanet:435329/e"}
xref: Orphanet:435329 {source="MONDO:equivalentTo"}
xref: UMLS:C3495361 {source="MEDGEN:501159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:435329"} ! neoplasm
is_a: MONDO:0019060 {source="Orphanet:435329"} ! bone neoplasm
intersection_of: MONDO:0002119 ! ossifying fibroma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015959"} ! rare

[Term]
id: MONDO:0007661
name: Tourette syndrome
def: "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic motor tics" RELATED [OMIM:137580]
synonym: "Gilles De 50A Tourette syndrome" RELATED [OMIM:137580]
synonym: "Gilles de la Tourette syndrome" RELATED [MONDO:Lexical, OMIM:137580, Orphanet:856]
synonym: "GTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137580, Orphanet:856]
synonym: "Guinon's disease" EXACT [DOID:11119]
synonym: "motor-verbal tic disorder" EXACT [DOID:11119]
synonym: "psychogenic tics" EXACT [DOID:11119]
synonym: "Tourette disease" EXACT [Orphanet:856]
synonym: "Tourette disorder" RELATED [OMIM:137580]
synonym: "Tourette syndrome" EXACT [DOID:11119, OMIM:137580]
synonym: "Tourette's syndrome" EXACT [NCIT:C35078]
xref: DOID:11119 {source="MONDO:equivalentTo"}
xref: EFO:0004895 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F95.2 {source="DOID:11119"}
xref: ICD9:307.23 {source="DOID:11119"}
xref: MEDGEN:21219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005879 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"}
xref: NCIT:C35078 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"}
xref: OMIM:137580 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"}
xref: Orphanet:856 {source="MONDO:equivalentObsolete", source="OMIM:137580"}
xref: SCTID:154936002 {source="DOID:11119"}
xref: SCTID:192624004 {source="DOID:11119"}
xref: SCTID:268778009 {source="DOID:11119"}
xref: SCTID:39098006 {source="DOID:11119"}
xref: SCTID:5158005 {source="DOID:11119", source="MONDO:equivalentTo"}
xref: UMLS:C0040517 {source="MEDGEN:21219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C35078"} ! syndromic disease
is_a: MONDO:0002420 {source="DOID:11119", source="MESH:D005879"} ! tic disorder
is_a: MONDO:0003847 {source="MESH:D005879/inferred"} ! hereditary disease
is_a: MONDO:0005395 {source="MESH:D005879/inferred", source="NCIT:C35078"} ! movement disorder
relationship: disease_has_feature HP:0100034 ! Motor tics
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007662
name: anterior segment dysgenesis 4
def: "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:3026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anterior segment dysgenesis 4" EXACT [OMIM:137600]
synonym: "ASGD4" RELATED ABBREVIATION [OMIM:137600]
synonym: "IRID2" EXACT ABBREVIATION [GARD:0003026, MONDO:Lexical, OMIM:137600]
synonym: "iridogoniodysgenesis caused by mutation in PITX2" EXACT [MONDO:design_pattern]
synonym: "iridogoniodysgenesis syndrome" BROAD [OMIM:137600]
synonym: "iridogoniodysgenesis type 2" RELATED [GARD:0003026]
synonym: "iridogoniodysgenesis, type 2" EXACT [MONDO:Lexical, OMIM:137600]
synonym: "iris hypoplasia with early-onset glaucoma, autosomal dominant" RELATED [OMIM:137600]
synonym: "PITX2 iridogoniodysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080609 {source="MONDO:equivalentTo"}
xref: GARD:3026 {source="MONDO:GARD"}
xref: MEDGEN:330750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:137600 {source="MONDO:equivalentTo"}
xref: Orphanet:91483 {source="OMIM:137600"}
xref: UMLS:C1842031 {source="MEDGEN:330750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019503 {source="MONDO:Redundant", source="OMIM:137600"} ! anterior segment dysgenesis
is_a: MONDO:0019628 {source="Orphanet:91483/btnt"} ! Rieger anomaly
intersection_of: MONDO:0011119 ! iridogoniodysgenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 ! PITX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 {source="MONDO:mim2gene_medgen"} ! PITX2

[Term]
id: MONDO:0007663
name: glaucoma with elevated episcleral venous pressure
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glaucoma with elevated episcleral venous pressure" EXACT [OMIM:137700]
xref: MEDGEN:333975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564235 {source="MONDO:equivalentTo"}
xref: OMIM:137700 {source="MONDO:equivalentTo"}
xref: UMLS:C1842030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333975"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005041 {source="DC-OMIM:137700", source="MESH:C564235/inferred", source="MONDO:Redundant"} ! glaucoma

[Term]
id: MONDO:0007664
name: glaucoma 1, open angle, A
def: "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9485", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glaucoma 1, open angle, 50" RELATED [OMIM:137750]
synonym: "glaucoma 1, open angle, A" EXACT [MONDO:Lexical, OMIM:137750]
synonym: "glaucoma 1, open angle, type A" EXACT [MONDORULE:1, OMIM:137750]
synonym: "glaucoma 1A, primary open angle" EXACT [OMIM:137750, OMIM:genemap2]
synonym: "glaucoma hereditary, juvenile" RELATED [GARD:0009485]
synonym: "glaucoma, primary open angle, juvenile-onset, 1" RELATED [OMIM:137750]
synonym: "GLC1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137750]
synonym: "JOAG1" BROAD ABBREVIATION [GARD:0009485]
synonym: "JOAG1A" EXACT ABBREVIATION []
synonym: "juvenile glaucoma caused by mutation in MYOC" EXACT [MONDO:design_pattern]
synonym: "juvenile open angle glaucoma caused by mutation in MYOC" EXACT []
synonym: "MYOC juvenile glaucoma" EXACT [MONDO:design_pattern]
synonym: "MYOC juvenile open angle glaucoma" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "primary open angle glaucoma juvenile onset 1" RELATED [GARD:0009485]
xref: GARD:9485 {source="MONDO:GARD"}
xref: MEDGEN:333974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564234 {source="MONDO:equivalentTo"}
xref: OMIM:137750 {source="MONDO:equivalentTo"}
xref: Orphanet:98977 {source="OMIM:137750"}
xref: UMLS:C1842028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333974"}
is_a: MONDO:0020367 {source="MONDO:Redundant", source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma
intersection_of: MONDO:0020367 ! juvenile open angle glaucoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7610 ! MYOC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7610 {source="MONDO:mim2gene_medgen"} ! MYOC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007665
name: obsolete glaucoma 1, open angle, E
def: "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." [NCIT:C35394]
synonym: "chronic simple glaucoma" EXACT [DOID:1070]
xref: DOID:1070 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H40.1
xref: ICD10CM:H40.11 {source="DOID:1070"}
xref: ICD9:365.11 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1070"}
xref: MESH:C562750 {source="MONDO:obsoleteEquivalent", source="DOID:1070"}
xref: NCIT:C35394 {source="MONDO:obsoleteEquivalent", source="DOID:1070"}
xref: SCTID:155122001 {source="DOID:1070"}
xref: SCTID:77075001 {source="MONDO:obsoleteEquivalent", source="DOID:1070"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100553

[Term]
id: MONDO:0007666
name: glaucoma-sleep apnea syndrome
def: "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." [Orphanet:2085]
subset: gard_rare {source="GARD:2483", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2085"}
subset: orphanet_rare {source="Orphanet:2085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glaucoma and sleep apnea" RELATED [OMIM:137763]
synonym: "glaucoma sleep apnea" RELATED [GARD:0002483]
xref: GARD:2483 {source="MONDO:GARD"}
xref: MEDGEN:330749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564232 {source="MONDO:equivalentTo"}
xref: OMIM:137763 {source="Orphanet:2085/e", source="MONDO:equivalentTo", source="Orphanet:2085", source="GARD:0002483"}
xref: Orphanet:2085 {source="MONDO:equivalentTo", source="OMIM:137763", source="GARD:0002483"}
xref: UMLS:C1842025 {source="MEDGEN:330749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea" xsd:anyURI {source="GARD:0002483"}

[Term]
id: MONDO:0007667
name: subependymoma
def: "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." [Orphanet:251639]
subset: gard_rare {source="GARD:10070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251639"}
subset: ordo_histopathological_subtype {source="Orphanet:251639"}
subset: orphanet_rare {source="Orphanet:251639"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "mixed subependymoma-ependymoma" EXACT [DOID:4843]
synonym: "subependymal astrocytoma" EXACT [DOID:4843, NCIT:C3795, NCIT:C6989]
synonym: "subependymal astrocytoma (formerly)" RELATED [GARD:0010070]
synonym: "subependymal astrocytoma NOS" RELATED EXCLUDE [DOID:4843]
synonym: "subependymal glioma" EXACT [NCIT:C3795]
synonym: "subependymoma" EXACT [MONDO:0006985, NCIT:C3795]
synonym: "SUBEPENDYMOMA, benign" EXACT [NCIT:C3795]
synonym: "WHO grade I ependymal neoplasm" EXACT [NCIT:C3795]
synonym: "WHO grade I ependymal tumor" EXACT [DOID:4843, NCIT:C3795]
synonym: "WHO grade I ependymal tumour" EXACT OMO:0003005 []
xref: DOID:4843 {source="EFO:1001197", source="MONDO:equivalentTo"}
xref: EFO:1000553 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10070 {source="MONDO:GARD"}
xref: ICD10CM:D43.2 {source="Orphanet:251639", source="Orphanet:251639/ntbt"}
xref: ICDO:9383/1 {source="NCIT:C3795"}
xref: MEDGEN:64637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018315 {source="EFO:1001197", source="MONDO:equivalentTo", source="DOID:4843"}
xref: NCIT:C3795 {source="EFO:1000553", source="MONDO:equivalentTo", source="DOID:4843"}
xref: ONCOTREE:SUBE {source="MONDO:equivalentTo"}
xref: Orphanet:251639 {source="MONDO:equivalentTo"}
xref: SCTID:189910001 {source="DOID:4843"}
xref: SCTID:4553004 {source="EFO:1001197", source="DOID:4843"}
xref: UMLS:C0206725 {source="MEDGEN:64637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3795", source="ONCOTREE:SUBE", source="Orphanet:251639/inferred"} ! ependymal tumor
is_a: MONDO:0016697 {source="Orphanet:251639"} ! low grade ependymoma

[Term]
id: MONDO:0007668
name: globulin anomaly involving beta (2A)-globulin
synonym: "globulin anomaly involving beta (2A)-globulin" EXACT [OMIM:137900]
xref: MEDGEN:330741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564229 {source="MONDO:equivalentTo"}
xref: OMIM:137900 {source="MONDO:equivalentTo"}
xref: UMLS:C1842009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330741"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007669
name: renal cysts and diabetes syndrome
def: "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome." [Orphanet:93111]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93111"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT [DOID:0111101]
synonym: "atypical FJHN" EXACT [DOID:0111101]
synonym: "CAKUT with diabetes" EXACT [DOID:0111101]
synonym: "congenital anomalies of the kidney and urinary tract with diabetes" EXACT [DOID:0111101, OMIM:137920]
synonym: "familial hypoplastic glomerulocystic kidney" EXACT [DOID:0111101]
synonym: "FJHN atypical" RELATED [GARD:0010221]
synonym: "FJHN, atypical" RELATED [OMIM:137920]
synonym: "glomerulocystic kidney disease, hypoplastic type" RELATED [OMIM:137920]
synonym: "glomerulocystic kidney, familial hypoplastic" RELATED [OMIM:137920]
synonym: "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes" EXACT [NCIT:C123018]
synonym: "HNF1B-MODY" EXACT [Orphanet:93111]
synonym: "HNF1B-related renal cysts and diabetes syndrome" EXACT [Orphanet:93111]
synonym: "hyperuricemic nephropathy, familial juvenile, atypical" RELATED [OMIM:137920]
synonym: "hypoplastic type glomerulocystic kidney disease" EXACT [DOID:0111101]
synonym: "maturity onset diabetes of the Young, type 5" EXACT [NCIT:C123018]
synonym: "maturity-onset diabetes of the young type 5" RELATED [DOID:0111101]
synonym: "maturity-onset diabetes of the Young, type 5" RELATED [OMIM:137920]
synonym: "MODY type 5" RELATED [GARD:0010221]
synonym: "MODY5" EXACT ABBREVIATION [DOID:0111101, Orphanet:93111]
synonym: "RCAD" EXACT ABBREVIATION [DOID:0111101, MONDO:Lexical, OMIM:137920]
synonym: "RCAD syndrome" EXACT [Orphanet:93111]
synonym: "renal cysts and diabetes syndrome" EXACT CLINGEN_LABEL [DOID:0111101, MONDO:Lexical, OMIM:137920]
synonym: "renal cysts-maturity-onset diabetes of the young syndrome" EXACT [Orphanet:93111]
synonym: "renal dysfunction-early-onset diabetes syndrome" EXACT [Orphanet:93111]
xref: DECIPHER:47 {source="MONDO:equivalentTo"}
xref: DOID:0111101 {source="MONDO:equivalentTo"}
xref: GARD:10221 {source="MONDO:GARD"}
xref: ICD10CM:E11.2 {source="Orphanet:93111", source="Orphanet:93111/attributed", source="Orphanet:93111/ntbt"}
xref: MEDGEN:96569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535520 {source="Orphanet:93111", source="MONDO:equivalentTo", source="Orphanet:93111/e"}
xref: NANDO:2201073 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123018 {source="MONDO:equivalentTo"}
xref: OMIM:137920 {source="Orphanet:93111", source="MONDO:equivalentTo", source="Orphanet:93111/e", source="DOID:0111101"}
xref: Orphanet:93111 {source="MONDO:equivalentTo", source="OMIM:137920"}
xref: SCTID:446641003 {source="MONDO:equivalentTo"}
xref: UMLS:C0431693 {source="MEDGEN:96569", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123018"} ! syndromic disease
is_a: MONDO:0018911 {source="DOID:0111101"} ! maturity-onset diabetes of the young
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11630 {source="MONDO:mim2gene_medgen"} ! HNF1B
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5" xsd:anyURI {source="GARD:0010221"}

[Term]
id: MONDO:0007670
name: hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
def: "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." []
subset: gard_rare {source="GARD:12827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69735"}
subset: orphanet_rare {source="Orphanet:69735"}
subset: rare
synonym: "hypotrichosis lymphedema telangiectasia syndrome" RELATED [GARD:0012827]
xref: GARD:12827 {source="MONDO:GARD"}
xref: Orphanet:2087 {source="OMIM:137940"}
xref: Orphanet:69735 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0007671
name: fibronectin glomerulopathy
def: "A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:84090]
comment: Editor note: consider splitting out type 1, and also separate class for giant subtype
subset: gard_rare {source="GARD:15019", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84090"}
subset: orphanet_rare {source="Orphanet:84090"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "fibronectin glomerulopathy" EXACT [MESH:C536826]
synonym: "GFND" EXACT ABBREVIATION [Orphanet:84090]
synonym: "GFND1" RELATED ABBREVIATION [GARD:0009268, MESH:C536826, MONDO:Lexical, OMIM:137950]
synonym: "GFND2" RELATED ABBREVIATION [MESH:C536826]
synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [MESH:C536826]
synonym: "glomerulopathy with fibronectin deposits" EXACT [Orphanet:84090]
synonym: "glomerulopathy with fibronectin deposits 1" RELATED [MESH:C536826, MONDO:Lexical, OMIM:137950]
synonym: "glomerulopathy with fibronectin deposits 2" RELATED [MESH:C536826]
synonym: "glomerulopathy with giant fibrillar deposits" RELATED [GARD:0009268, MESH:C536826]
synonym: "lobular glomerulopathy, familial" RELATED [MESH:C536826]
xref: GARD:15019 {source="MONDO:GARD"}
xref: ICD10CM:N07.6 {source="Orphanet:84090", source="Orphanet:84090/attributed", source="Orphanet:84090/ntbt"}
xref: icd11.foundation:1877494378 {source="MONDO:equivalentTo", source="Orphanet:84090"}
xref: MEDGEN:854773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536826 {source="MONDO:equivalentTo"}
xref: MESH:C562900 {source="MONDO:equivalentTo"}
xref: NANDO:2200133 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:137950 {source="MONDO:equivalentTo"}
xref: Orphanet:84090 {source="MONDO:equivalentTo", source="OMIM:137950", source="GARD:0009268"}
xref: SCTID:236535001 {source="MONDO:equivalentTo"}
xref: UMLS:C3888104 {source="MEDGEN:854773", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:137950"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1" xsd:anyURI {source="GARD:0009268"}

[Term]
id: MONDO:0007672
name: glomuvenous malformation
def: "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." [Orphanet:83454]
subset: gard_rare {source="GARD:16728", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83454"}
subset: ordo_malformation_syndrome {source="Orphanet:83454"}
subset: orphanet_rare {source="Orphanet:83454"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial glomangioma" EXACT [MONDO:0004424, NCIT:C5350]
synonym: "glomangiomas, multiple" RELATED [OMIM:138000]
synonym: "glomangiomatosis" RELATED [Orphanet:83454]
synonym: "glomus tumors, multiple" RELATED [OMIM:138000]
synonym: "glomuvenous malformation" EXACT CLINGEN_LABEL []
synonym: "GLOMUVENOUS malformations" RELATED [MONDO:Lexical, OMIM:138000]
synonym: "GVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:138000]
synonym: "hereditary glomangioma" EXACT [MONDO:patterns/hereditary, NCIT:C5350]
synonym: "hereditary multiple glomangiomas" EXACT [Orphanet:83454]
synonym: "multiple glomus tumors" EXACT [Orphanet:83454]
synonym: "multiple glomus tumours" EXACT OMO:0003005 []
synonym: "Venous malformations with glomus cells" EXACT [OMIM:138000, Orphanet:83454]
synonym: "VMGLOM" EXACT ABBREVIATION [Orphanet:83454]
xref: DOID:7996 {source="MONDO:equivalentTo"}
xref: GARD:16728 {source="MONDO:GARD"}
xref: ICD10CM:Q27.8 {source="Orphanet:83454/attributed", source="Orphanet:83454/ntbt", source="Orphanet:83454"}
xref: MedDRA:10018381 {source="Orphanet:83454", source="Orphanet:83454/e"}
xref: MEDGEN:374834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536827 {source="Orphanet:83454", source="MONDO:equivalentTo", source="Orphanet:83454/e"}
xref: NCIT:C5350 {source="DOID:7996", source="MONDO:equivalentTo"}
xref: OMIM:138000 {source="Orphanet:83454", source="MONDO:equivalentTo", source="Orphanet:83454/e"}
xref: Orphanet:83454 {source="OMIM:138000", source="MONDO:equivalentTo"}
xref: SCTID:715644000 {source="MONDO:equivalentTo"}
xref: UMLS:C1841984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374834"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0024291 {source="Orphanet:83454", source="https://orcid.org/0000-0002-4142-7153"} ! vascular malformation
relationship: excluded_subClassOf MONDO:0002299 {source="DOID:7996", source="MONDO:Redundant", source="NCIT:C5350", source="PMID:15689436", source="https://orcid.org/0000-0001-5208-3432"} ! glomangioma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14373 {source="MONDO:mim2gene_medgen"} ! GLMN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007673
name: Glucoglycinuria
synonym: "Glucoglycinuria" EXACT [OMIM:138070]
xref: MEDGEN:78686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562670 {source="MONDO:equivalentTo"}
xref: OMIM:138070 {source="MONDO:equivalentTo"}
xref: UMLS:C0268536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78686"}
is_a: MONDO:0003847 {source="MESH:C562670/inferred"} ! hereditary disease

[Term]
id: MONDO:0007674
name: glucose-6-phosphate dehydrogenase-like
synonym: "G6PDL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:138110]
synonym: "glucose-6-phosphate dehydrogenase-like" EXACT [MONDO:Lexical, OMIM:138110]
xref: MEDGEN:236373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:138110 {source="MONDO:equivalentTo"}
xref: UMLS:C1414893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236373"}
is_a: MONDO:0003847 {source="OMIM:138110/inferred"} ! hereditary disease

[Term]
id: MONDO:0007675
name: glutamic acid decarboxylase, brain, membrane form
synonym: "glutamic acid decarboxylase, brain, membrane form" EXACT [OMIM:138277]
xref: MEDGEN:333943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:138277 {source="MONDO:equivalentTo"}
xref: UMLS:C1841911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333943"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007676
name: glutathione transferase activity toward trans-stilbene oxide
synonym: "glutathione transferase activity toward trans-stilbene oxide" EXACT [OMIM:138340]
synonym: "trans-stilbene oxide glutathione transferase activity" RELATED [OMIM:138340]
xref: MEDGEN:330718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:138340 {source="MONDO:equivalentTo"}
xref: UMLS:C1841901 {source="MEDGEN:330718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007677
name: hyperglycinuria
synonym: "glycinuria with or without oxalate nephrolithiasis" RELATED [OMIM:138500]
synonym: "glycinuria with or without oxalate urolithiasis" RELATED [OMIM:138500]
synonym: "hyperglycinuria" EXACT [MONDO:ambiguous, OMIM:138500]
synonym: "hyperglycinuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Iminoglycinuria type 2" RELATED [OMIM:138500]
xref: HP:0003108 {source="MONDO:otherHierarchy"}
xref: MEDGEN:107456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563009 {source="MONDO:equivalentTo"}
xref: OMIM:138500 {source="MONDO:equivalentTo"}
xref: UMLS:C0543541 {source="MEDGEN:107456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="https://github.com/monarch-initiative/mondo/issues/1510", source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder
is_a: MONDO:0003847 {source="MESH:C563009/inferred", source="OMIM:138500/inferred"} ! hereditary disease
property_value: IAO:0000589 "hyperglycinuria (disease)" xsd:string

[Term]
id: MONDO:0007678
name: obsolete glycoprotein, renal
comment: This is an electrophetic finding and not a disease.
synonym: "glycoprotein, renal" EXACT [OMIM:138710]
xref: OMIM:138710 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2245" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007679
name: GMS syndrome
def: "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992." [Orphanet:2090]
subset: gard_rare {source="GARD:2523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2090"}
subset: ordo_malformation_syndrome {source="Orphanet:2090"}
subset: orphanet_rare {source="Orphanet:2090"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GMS syndrome" EXACT [OMIM:138770]
synonym: "Goniodysgenesis--intellectual disability--short stature syndrome" RELATED [OMIM:138770]
synonym: "Goniodysgenesis--mental retardation--short stature syndrome" RELATED DEPRECATED [OMIM:138770]
synonym: "Goniodysgenesis-intellectual disability-short stature syndrome" EXACT [Orphanet:2090]
xref: GARD:2523 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2090", source="Orphanet:2090/attributed", source="Orphanet:2090/ntbt"}
xref: MEDGEN:374804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564214 {source="MONDO:equivalentTo"}
xref: OMIM:138770 {source="MONDO:equivalentTo", source="Orphanet:2090", source="Orphanet:2090/e"}
xref: Orphanet:2090 {source="OMIM:138770", source="MONDO:equivalentTo"}
xref: SCTID:716024001 {source="MONDO:equivalentTo"}
xref: UMLS:C1841854 {source="MEDGEN:374804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2090", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020218 {source="Orphanet:2090", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete goniodysgenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome" xsd:anyURI {source="GARD:0002523"}

[Term]
id: MONDO:0007680
name: multinodular goiter-cystic kidney-polydactyly syndrome
def: "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." [Orphanet:2091]
subset: gard_rare {source="GARD:1671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2091"}
subset: ordo_malformation_syndrome {source="Orphanet:2091"}
subset: orphanet_rare {source="Orphanet:2091"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Daneman Davy Mancer syndrome" RELATED [GARD:0001671]
synonym: "Daneman-Davy-Mancer syndrome" EXACT [Orphanet:2091]
synonym: "goiter, multinodular, cystic renal disease, and digital anomalies" RELATED [OMIM:138790]
synonym: "MNG/CRD/Da" RELATED [OMIM:138790]
synonym: "multinodular goiter - cystic kidney - polydactyly" RELATED [GARD:0001671]
synonym: "multinodular goiter, cystic renal disease, and digital anomalies" RELATED [GARD:0001671]
synonym: "multinodular goiter/cystic renal disease/digital anomalies" RELATED [OMIM:138790]
synonym: "multinodular goitre - cystic kidney - polydactyly" RELATED OMO:0003005 []
synonym: "thyroid-renal-digital anomalies" EXACT [Orphanet:2091]
xref: GARD:1671 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2091", source="Orphanet:2091/attributed", source="Orphanet:2091/ntbt"}
xref: MEDGEN:333929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535986 {source="MONDO:equivalentTo"}
xref: OMIM:138790 {source="MONDO:equivalentTo", source="Orphanet:2091", source="Orphanet:2091/e"}
xref: Orphanet:2091 {source="MONDO:equivalentTo", source="OMIM:138790"}
xref: SCTID:723409007 {source="MONDO:equivalentTo"}
xref: UMLS:C1841853 {source="MEDGEN:333929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2091"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2091", source="Orphanet:2091/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0007681
name: goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
def: "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17278", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276399"}
subset: orphanet_rare {source="Orphanet:276399"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "euthyroid goiter" BROAD [OMIM:138800]
synonym: "euthyroid goitre" BROAD OMO:0003005 []
synonym: "familial MNG" EXACT [Orphanet:276399]
synonym: "FMNG" EXACT ABBREVIATION [Orphanet:276399]
synonym: "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:138800]
synonym: "goiter, nontoxic, with Intrathyroidal calcification" EXACT [OMIM:138800]
synonym: "MNG1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:138800]
synonym: "multinodular goiter, adolescent" EXACT [OMIM:138800]
synonym: "simple goiter" BROAD [OMIM:138800]
synonym: "simple goitre" BROAD OMO:0003005 []
xref: GARD:17278 {source="MONDO:GARD"}
xref: ICD10CM:E04.2 {source="Orphanet:276399/attributed", source="Orphanet:276399/ntbt", source="Orphanet:276399"}
xref: ICD9:240.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:86230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562732 {source="MONDO:equivalentTo"}
xref: OMIM:138800 {source="Orphanet:276399", source="MONDO:equivalentTo", source="Orphanet:276399/e"}
xref: Orphanet:276399 {source="MONDO:equivalentTo", source="OMIM:138800"}
xref: SCTID:267369002 {source="MONDO:equivalentTo"}
xref: UMLS:C0302859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:86230"}
is_a: MONDO:0000334 {source="DC-OMIM:138800", source="MONDO:Redundant", source="OMIM:138800"} ! multinodular goiter
is_a: MONDO:0003240 {source="MONDO:Redundant", source="Orphanet:276399"} ! thyroid gland disorder
is_a: MONDO:0015356 {source="Orphanet:276399"} ! hereditary neoplastic syndrome
is_a: MONDO:0100216 {source="https://clinicalgenome.org/affiliation/40023/"} ! DICER1-related tumor predisposition
intersection_of: MONDO:0000334 ! multinodular goiter
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 ! DICER1
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015969"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 {source="MONDO:mim2gene_medgen"} ! DICER1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7051" xsd:anyURI

[Term]
id: MONDO:0007682
name: granddad syndrome
synonym: "granddad syndrome" EXACT [OMIM:138920]
synonym: "Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance" RELATED [OMIM:138920]
xref: MEDGEN:330701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564211 {source="MONDO:equivalentTo"}
xref: OMIM:138920 {source="MONDO:equivalentTo"}
xref: UMLS:C1841836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330701"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007683
name: Grant syndrome
def: "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986." [Orphanet:2097]
subset: gard_rare {source="GARD:2559", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2097"}
subset: ordo_malformation_syndrome {source="Orphanet:2097"}
subset: orphanet_rare {source="Orphanet:2097"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Grant syndrome" EXACT [OMIM:138930]
synonym: "persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia" RELATED [GARD:0002559]
xref: GARD:2559 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2097/attributed", source="Orphanet:2097/ntbt", source="Orphanet:2097"}
xref: MEDGEN:333925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537293 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"}
xref: OMIM:138930 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"}
xref: Orphanet:2097 {source="MONDO:equivalentTo", source="OMIM:138930"}
xref: SCTID:723827003 {source="MONDO:equivalentTo"}
xref: UMLS:C1841835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333925"}
is_a: MONDO:0003847 {source="OMIM:138930"} ! hereditary disease
relationship: disease_has_feature HP:0004349 {source="Orphanet:2097"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2097", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome" xsd:anyURI {source="GARD:0002559"}

[Term]
id: MONDO:0007684
name: obsolete granulomatous disease, chronic, autosomal dominant type
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3797" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010600

[Term]
id: MONDO:0007685
name: granulosis rubra nasi
synonym: "granulosis rubra nasi" EXACT [OMIM:139000]
xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562483 {source="MONDO:equivalentTo"}
xref: OMIM:139000 {source="MONDO:equivalentTo"}
xref: SCTID:22818000 {source="MONDO:equivalentTo"}
xref: UMLS:C0263471 {source="MEDGEN:78096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007686
name: gray platelet syndrome
def: "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." [Orphanet:721]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:721"}
subset: orphanet_rare {source="Orphanet:721"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha storage pool deficiency" EXACT [Orphanet:721]
synonym: "BDPLT4" EXACT ABBREVIATION [DOID:0111044]
synonym: "bleeding disorder, Platelet-type, 4" RELATED [OMIM:139090]
synonym: "GPS" EXACT ABBREVIATION [DOID:0111044, MONDO:Lexical, OMIM:139090, Orphanet:721]
synonym: "gray platelet syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C84741, OMIM:139090]
synonym: "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins" RELATED [GARD:0002562]
synonym: "platelet alpha-granule deficiency" EXACT [DOID:0111044, Orphanet:721]
synonym: "platelet-type bleeding disorder 4" EXACT [DOID:0111044]
xref: DOID:0111044 {source="MONDO:equivalentTo"}
xref: GARD:2562 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:721/ntbt", source="Orphanet:721", source="DOID:0111044", source="Orphanet:721/inclusion"}
xref: MEDGEN:82900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055652 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"}
xref: NCIT:C84741 {source="MONDO:equivalentTo"}
xref: OMIM:139090 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"}
xref: Orphanet:721 {source="MONDO:equivalentTo", source="OMIM:139090"}
xref: SCTID:51720005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82900"}
is_a: MONDO:0000009 {source="DC-OMIM:139090", source="MONDO:Redundant", source="OMIM:139090"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0002254 {source="NCIT:C84741"} ! syndromic disease
is_a: MONDO:0020117 {source="Orphanet:721"} ! alpha granule disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31928 {source="MONDO:mim2gene_medgen"} ! NBEAL2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome" xsd:anyURI {source="GARD:0002562"}

[Term]
id: MONDO:0007687
name: graying of hair, precocious
synonym: "graying of hair, precocious" EXACT [OMIM:139100]
synonym: "White hair, premature" RELATED [OMIM:139100]
xref: MEDGEN:374795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564209 {source="MONDO:equivalentTo"}
xref: OMIM:139100 {source="MONDO:equivalentTo"}
xref: UMLS:C1841809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374795"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007688
name: Myhre syndrome
def: "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." [Orphanet:2588]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2572", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1481", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2588"}
subset: ordo_malformation_syndrome {source="Orphanet:2588"}
subset: orphanet_rare {source="Orphanet:2588"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial dysmorphism - intellectual deficit - short stature - hearing loss" RELATED [GARD:0002572]
synonym: "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome" EXACT [Orphanet:2588]
synonym: "Growth mental deficiency syndrome of Myhre" RELATED [GARD:0002572]
synonym: "Growth-mental deficiency syndrome of Myhre" RELATED [OMIM:139210]
synonym: "LAPS syndrome" RELATED [GARD:0002572]
synonym: "laryngotracheal stenosis, arthropathy, prognathism, and short stature" RELATED [OMIM:139210]
synonym: "MYHRE syndrome" RELATED [OMIM:139210]
synonym: "Myhre syndrome" EXACT [MONDO:Lexical, OMIM:139210]
synonym: "MYHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:139210]
xref: GARD:2572 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2588/attributed", source="Orphanet:2588/ntbt", source="Orphanet:2588"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:167103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537620 {source="MONDO:equivalentTo"}
xref: NCIT:C123815 {source="MONDO:equivalentTo"}
xref: NORD:1481 {source="MONDO:NORD"}
xref: OMIM:139210 {source="Orphanet:2588", source="MONDO:equivalentTo", source="Orphanet:2588/e"}
xref: Orphanet:2588 {source="OMIM:139210", source="MONDO:equivalentTo"}
xref: SCTID:699316006 {source="MONDO:equivalentTo"}
xref: UMLS:C0796081 {source="MEDGEN:167103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2588", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123815"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2588"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019695 {source="Orphanet:2588", source="PMID:31633310"} ! acromelic dysplasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6770 {source="MONDO:mim2gene_medgen", source="https://clinicalgenome.org/affiliation/40006"} ! SMAD4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome" xsd:anyURI {source="GARD:0002572"}

[Term]
id: MONDO:0007689
name: guanylate kinase 3
synonym: "guanylate KINASE 3" RELATED [OMIM:139290]
synonym: "guanylate kinase 3" EXACT [MONDO:Lexical, OMIM:139290]
synonym: "guanylate kinase type 3" EXACT [MONDORULE:1, OMIM:139290]
synonym: "GUK3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:139290]
xref: MEDGEN:331129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:139290 {source="MONDO:equivalentTo"}
xref: UMLS:C1841763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331129"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007690
name: aromatase excess syndrome
def: "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." [Orphanet:178345]
subset: gard_rare {source="GARD:12494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178345"}
subset: orphanet_rare {source="Orphanet:178345"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AEXS" EXACT ABBREVIATION [DOID:0090122, MONDO:Lexical, OMIM:139300, Orphanet:178345]
synonym: "aromatase activity, increased" RELATED [OMIM:139300]
synonym: "aromatase excess syndrome" EXACT [MESH:C000591739, MONDO:Lexical, OMIM:139300]
synonym: "familial hyperestrogenism" EXACT [DOID:0090122, Orphanet:178345]
synonym: "gynecomastia, familial, due to increased aromatase activity" EXACT [MESH:C000591739]
synonym: "gynecomastia, hereditary" EXACT [MESH:C000591739]
synonym: "hereditary prepubertal gynecomastia" EXACT [DOID:0090122, Orphanet:178345]
synonym: "increased aromatase activity" EXACT [DOID:0090122]
xref: DOID:0090122 {source="MONDO:equivalentTo"}
xref: GARD:12494 {source="MONDO:GARD"}
xref: ICD10CM:E30.1 {source="Orphanet:178345/attributed", source="Orphanet:178345/ntbt", source="DOID:0090122", source="Orphanet:178345"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:409989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000591739 {source="MONDO:equivalentTo"}
xref: OMIM:139300 {source="DOID:0090122", source="Orphanet:178345", source="MONDO:equivalentTo", source="Orphanet:178345/e"}
xref: Orphanet:178345 {source="OMIM:139300", source="DOID:0090122", source="MONDO:equivalentTo"}
xref: SCTID:709075008 {source="MONDO:equivalentTo"}
xref: UMLS:C1970109 {source="MEDGEN:409989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="MESH:C000591739"} ! inborn errors of metabolism
relationship: disease_has_basis_in_disruption_of GO:0070330 ! aromatase activity
relationship: disease_has_feature MONDO:0015791 {source="Orphanet:178345"} ! peripheral precocious puberty
relationship: disease_has_location UBERON:0000990 ! reproductive system
relationship: excluded_subClassOf MONDO:0016072 {source="Orphanet:178345", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete anomaly of puberty or/and menstrual cycle of genetic origin
relationship: excluded_subClassOf MONDO:0018561 {source="Orphanet:178345", source="https://github.com/Orphanet/ORDO/issues/19", source="https://orcid.org/0000-0001-5208-3432"} ! precocious puberty in female
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2594 {source="MONDO:mim2gene_medgen"} ! CYP19A1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome" xsd:anyURI {source="GARD:0012494"}

[Term]
id: MONDO:0007691
name: Guillain-Barre syndrome, familial
def: "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy." [https://orcid.org/0000-0002-0736-9199]
subset: gard_rare {source="GARD:18211", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIDP" EXACT ABBREVIATION [OMIM:139393]
synonym: "GBS" RELATED ABBREVIATION [OMIM:139393]
synonym: "Guillain-Barre syndrome, familial" EXACT [OMIM:139393]
synonym: "neuropathy, inflammatory demyelinating" EXACT [OMIM:139393, OMIM:genemap2]
synonym: "polyneuropathy, inflammatory demyelinating, acute" EXACT [OMIM:139393]
xref: EFO:0009538 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18211 {source="MONDO:GARD"}
xref: ICD10CM:G61.8 {source="Orphanet:2932", source="Orphanet:2932/ntbt"}
xref: MedDRA:10057645 {source="Orphanet:2932", source="Orphanet:2932/e"}
xref: MEDGEN:901636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200030 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100251 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200905 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:139393 {source="DOID:12842", source="MONDO:equivalentTo"}
xref: Orphanet:2932 {source="MONDO:relatedTo"}
xref: Orphanet:98916 {source="OMIM:139393"}
xref: SCTID:155082001 {source="DOID:12842"}
xref: SCTID:267707000 {source="DOID:12842"}
xref: SCTID:40956001 {source="DOID:12842", source="MONDO:relatedTo"}
xref: SCTID:716723000 {source="MONDO:equivalentTo"}
xref: UMLS:C4083008 {source="MEDGEN:901636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0016218 {source="OMIM:139393", source="https://orcid.org/0000-0001-5208-3432"} ! Guillain-Barre syndrome
relationship: excluded_subClassOf MONDO:0016170 {source="Orphanet:2932", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chronic polyradiculoneuropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9118 {source="MONDO:mim2gene_medgen"} ! PMP22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3467" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007692
name: obsolete hairy ears
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "hairy ears" EXACT [OMIM:139500]
synonym: "hypertrichosis pinnae auris" RELATED [OMIM:139500]
xref: MESH:C562484 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:139500 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:89000008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007693
name: hypertrichosis cubiti-short stature syndrome
def: "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." [Orphanet:2220]
subset: gard_rare {source="GARD:143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2220"}
subset: ordo_malformation_syndrome {source="Orphanet:2220"}
subset: orphanet_rare {source="Orphanet:2220"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hairy elbows" EXACT [OMIM:139600, Orphanet:2220]
synonym: "hairy elbows syndrome" EXACT [Orphanet:2220]
synonym: "hypertrichosis cubiti" RELATED [GARD:0000143, OMIM:139600]
synonym: "MacDermot-Patton-Williams syndrome" EXACT [Orphanet:2220]
xref: GARD:143 {source="MONDO:GARD"}
xref: ICD10CM:Q84.2 {source="Orphanet:2220", source="Orphanet:2220/attributed", source="Orphanet:2220/ntbt"}
xref: MedDRA:10068636 {source="Orphanet:2220", source="Orphanet:2220/e"}
xref: MEDGEN:870835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535618 {source="MONDO:equivalentTo"}
xref: OMIM:139600 {source="GARD:0000143", source="Orphanet:2220", source="MONDO:equivalentTo", source="Orphanet:2220/e"}
xref: Orphanet:2220 {source="GARD:0000143", source="MONDO:equivalentTo", source="OMIM:139600"}
xref: UMLS:C4025295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:870835"}
is_a: MONDO:0019280 {source="MESH:C535618", source="Orphanet:2220"} ! hypertrichosis
is_a: MONDO:0019287 {source="Orphanet:2220"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0007694
name: hairy nose tip
synonym: "hairy nose tip" EXACT [OMIM:139630]
synonym: "HNT" RELATED ABBREVIATION [GARD:0008465]
xref: MEDGEN:333893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535619 {source="MONDO:equivalentTo"}
xref: OMIM:139630 {source="MONDO:equivalentTo"}
xref: UMLS:C1841695 {source="MEDGEN:333893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8465/hairy-nose-tip" xsd:anyURI {source="GARD:0008465"}

[Term]
id: MONDO:0007695
name: hairy palms and soles
synonym: "circumscribed hairy Dysembryoplasia of palms" RELATED [OMIM:139650]
synonym: "hairy cutaneous malformations of palms and soles" RELATED [GARD:0008461]
synonym: "hairy palms and soles" EXACT [OMIM:139650]
synonym: "thickened hair-bearing skin on the palms of both hands" RELATED [GARD:0008461]
xref: MEDGEN:330667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535620 {source="MONDO:equivalentTo"}
xref: OMIM:139650 {source="MONDO:equivalentTo"}
xref: UMLS:C1841694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330667"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8461/hairy-palms-and-soles" xsd:anyURI {source="GARD:0008461"}

[Term]
id: MONDO:0007696
name: Emery-Nelson syndrome
subset: gard_rare {source="GARD:2593", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1927"}
subset: ordo_malformation_syndrome {source="Orphanet:1927"}
subset: orphanet_rare {source="Orphanet:1927"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial syndrome of short stature, deformities of the hands and feet, and unusual facies" RELATED [GARD:0002593]
synonym: "hand and foot deformity - flat facies" RELATED [GARD:0002593]
synonym: "hand and foot deformity with flat facies" RELATED [OMIM:139750]
synonym: "hand and foot deformity-flat facies syndrome" EXACT [Orphanet:1927]
xref: GARD:2593 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1927/attributed", source="Orphanet:1927/ntbt", source="Orphanet:1927"}
xref: MEDGEN:333892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535626 {source="MONDO:equivalentTo"}
xref: OMIM:139750 {source="Orphanet:1927/e", source="MONDO:equivalentTo", source="Orphanet:1927"}
xref: Orphanet:1927 {source="OMIM:139750", source="MONDO:equivalentTo"}
xref: UMLS:C1841693 {source="MEDGEN:333892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0021147 {source="Orphanet:1927", source="Orphanet:1927/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0007697
name: hand clasping pattern
synonym: "hand clasping pattern" EXACT [OMIM:139800]
xref: MEDGEN:330666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:139800 {source="MONDO:equivalentTo"}
xref: UMLS:C1841692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330666"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007698
name: hand-foot-genital syndrome
def: "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." [Orphanet:2438]
subset: gard_rare {source="GARD:2594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2438"}
subset: ordo_malformation_syndrome {source="Orphanet:2438"}
subset: orphanet_rare {source="Orphanet:2438"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hand foot genital syndrome" RELATED [GARD:0002594]
synonym: "hand foot uterus syndrome" RELATED [GARD:0002594]
synonym: "hand-foot-genital syndrome" EXACT [MONDO:Lexical, OMIM:140000]
synonym: "hand-foot-uterus syndrome" EXACT [DOID:0060739, OMIM:140000, Orphanet:2438]
synonym: "HFG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:140000]
synonym: "HFG syndrome" RELATED [GARD:0002594]
synonym: "HFGS" EXACT ABBREVIATION [DOID:0060739, Orphanet:2438]
synonym: "HFU syndrome" RELATED [GARD:0002594]
xref: DOID:0060739 {source="MONDO:equivalentTo"}
xref: GARD:2594 {source="MONDO:GARD"}
xref: ICD10CM:Q51.2 {source="Orphanet:2438", source="Orphanet:2438/attributed", source="Orphanet:2438/ntbt", source="DOID:0060739"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10072361 {source="Orphanet:2438", source="Orphanet:2438/e"}
xref: MEDGEN:331103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535627 {source="MONDO:equivalentTo"}
xref: OMIM:140000 {source="MONDO:equivalentTo", source="Orphanet:2438", source="Orphanet:2438/e", source="DOID:0060739"}
xref: Orphanet:2438 {source="MONDO:equivalentTo", source="OMIM:140000", source="DOID:0060739"}
xref: SCTID:702425002 {source="MONDO:equivalentTo"}
xref: UMLS:C1841679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331103"}
is_a: MONDO:0000426 {source="DOID:0060739", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0015161 {source="Orphanet:2438"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:140000", source="Orphanet:2438"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5102 {source="MONDO:mim2gene_medgen"} ! HOXA13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0007699
name: Hashimoto thyroiditis
def: "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." [NCIT:C27191]
subset: otar {source="MONDO:OTAR"}
synonym: "autoimmune thyroiditis" RELATED [DOID:7188]
synonym: "chronic lymphocytic thyroiditides" RELATED [MESH:D050031]
synonym: "chronic lymphocytic thyroiditis" EXACT [DOID:7188]
synonym: "disease, Hashimoto" RELATED [MESH:D050031]
synonym: "disease, Hashimoto's" RELATED [MESH:D050031]
synonym: "Hashimoto disease" EXACT [NCIT:C27191]
synonym: "Hashimoto hypothyroidism" EXACT [Orphanet:855]
synonym: "Hashimoto struma" RELATED [MESH:D050031, OMIM:140300]
synonym: "Hashimoto syndrome" RELATED [MESH:D050031]
synonym: "Hashimoto thyroiditides" RELATED [MESH:D050031]
synonym: "Hashimoto thyroiditis" EXACT [DOID:7188, MESH:D050031, OMIM:140300]
synonym: "Hashimoto's disease" EXACT [DOID:7188, MESH:D050031]
synonym: "Hashimoto's struma" RELATED [MESH:D050031]
synonym: "Hashimoto's syndrome" EXACT [DOID:7188, MESH:D050031]
synonym: "Hashimoto's syndromes" RELATED [MESH:D050031]
synonym: "Hashimoto's thyroiditis" EXACT [DOID:7188, MONDO:0005268]
synonym: "Hashimotos disease" RELATED [MESH:D050031]
synonym: "Hashimotos syndrome" RELATED [MESH:D050031]
synonym: "HT" RELATED ABBREVIATION [MESH:D050031]
synonym: "Ht" RELATED [OMIM:140300]
synonym: "hypothyroidism, autoimmune" RELATED [OMIM:140300]
synonym: "hypothyroidism, autoimmune thyroid autoantibodies, included" RELATED [MESH:D050031]
synonym: "lymphocytic thyroiditides, chronic" RELATED [MESH:D050031]
synonym: "lymphocytic thyroiditis" BROAD [DOID:7188, NCIT:C38766]
synonym: "lymphocytic thyroiditis, chronic" RELATED [MESH:D050031]
synonym: "syndrome, Hashimoto's" RELATED [MESH:D050031]
synonym: "syndromes, Hashimoto's" RELATED [MESH:D050031]
synonym: "thyroid autoantibodies" RELATED [OMIM:140300]
synonym: "thyroiditides, chronic lymphocytic" RELATED [MESH:D050031]
synonym: "thyroiditides, Hashimoto" RELATED [MESH:D050031]
synonym: "thyroiditis, chronic lymphocytic" RELATED [MESH:D050031]
synonym: "thyroiditis, Hashimoto" RELATED [MESH:D050031]
xref: DOID:7188 {source="MONDO:equivalentTo", source="EFO:0003779"}
xref: EFO:0003779 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E06.3 {source="MONDO:equivalentTo", source="DOID:7188"}
xref: ICD9:245.2 {source="EFO:0003779"}
xref: MEDGEN:151769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013967 {source="DOID:7188"}
xref: MESH:D050031 {source="MONDO:equivalentTo", source="EFO:0003779"}
xref: NANDO:2200335 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27191 {source="MONDO:equivalentTo", source="EFO:0003779"}
xref: NCIT:C38766 {source="EFO:0003779", source="DOID:7188"}
xref: OMIM:140300 {source="MONDO:equivalentTo", source="EFO:0003779"}
xref: Orphanet:855 {source="MONDO:equivalentObsolete", source="OMIM:140300"}
xref: SCTID:190297000 {source="DOID:7188"}
xref: SCTID:21983002 {source="EFO:0003779", source="DOID:7188"}
xref: SCTID:66944004 {source="DOID:7188"}
xref: UMLS:C0677607 {source="MEDGEN:151769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Hashimoto's_thyroiditis {source="EFO:0003779"}
is_a: MONDO:0005623 {source="EFO:0003779", source="MESH:D050031"} ! autoimmune thyroid disease
is_a: MONDO:0007179 {source="DOID:7188/inferred", source="EFO:0003779/inferred", source="MESH:D050031/inferred", source="MONDO:Redundant", source="NCIT:C27191"} ! autoimmune disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 {source="MONDO:mim2gene_medgen"} ! CTLA4

[Term]
id: MONDO:0007700
name: hawkinsinuria
def: "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine." [Orphanet:2118]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2118"}
subset: orphanet_rare {source="Orphanet:2118"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [Orphanet:2118]
synonym: "4-HPPD deficiency" EXACT [Orphanet:2118]
synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [Orphanet:2118]
synonym: "hawkinsinuria" EXACT CLINGEN_LABEL [OMIM:140350]
xref: DOID:0111362 {source="MONDO:equivalentTo"}
xref: GARD:5668 {source="MONDO:GARD"}
xref: ICD10CM:E70.2 {source="Orphanet:2118", source="Orphanet:2118/attributed", source="Orphanet:2118/ntbt"}
xref: MEDGEN:419319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535845 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"}
xref: OMIM:140350 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"}
xref: Orphanet:2118 {source="MONDO:equivalentTo", source="OMIM:140350"}
xref: SCTID:414380008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931042 {source="MEDGEN:419319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017307 {source="Orphanet:2118", source="PMID:33340416"} ! disorder of tyrosine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5147 {source="MONDO:mim2gene_medgen"} ! HPD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria" xsd:anyURI {source="GARD:0005668"}

[Term]
id: MONDO:0007701
name: progressive familial heart block type II
subset: gard_rare {source="GARD:4879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "heart block progressive familial type 2" RELATED [GARD:0004879]
synonym: "PFHB2" EXACT ABBREVIATION [DOID:0111075, MONDO:Lexical, OMIM:140400]
synonym: "PFHBII" RELATED ABBREVIATION [OMIM:140400]
synonym: "progressive familial heart block type 2" RELATED [GARD:0004879]
synonym: "progressive familial heart block, type II" RELATED [MONDO:Lexical, OMIM:140400]
xref: DOID:0111075 {source="MONDO:equivalentTo"}
xref: GARD:4879 {source="MONDO:GARD"}
xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:333884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564202 {source="MONDO:equivalentTo"}
xref: OMIM:140400 {source="MONDO:equivalentTo", source="DOID:0111075"}
xref: Orphanet:871 {source="OMIM:140400"}
xref: SCTID:698251009 {source="MONDO:equivalentTo"}
xref: UMLS:C1841658 {source="MONDO:equivalentTo", source="MEDGEN:333884", source="MONDO:MEDGEN"}
is_a: MONDO:0019490 {source="DC-OMIM:140400", source="DOID:0111075", source="OMIM:140400"} ! progressive familial heart block
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-2" xsd:anyURI {source="GARD:0004879"}

[Term]
id: MONDO:0007702
name: heart-hand syndrome type 3
def: "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." [Orphanet:1342]
subset: gard_rare {source="GARD:2614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1342"}
subset: ordo_malformation_syndrome {source="Orphanet:1342"}
subset: orphanet_rare {source="Orphanet:1342"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atriodigital dysplasia type 3" EXACT [Orphanet:1342]
synonym: "brachydactyly and intraventricular conduction defect" RELATED [GARD:0002614]
synonym: "Cardiomelic syndrome type 3" EXACT [Orphanet:1342]
synonym: "heart-hand syndrome, Spanish type" EXACT [OMIM:140450, Orphanet:1342]
synonym: "heart-limb syndrome type 3" EXACT [Orphanet:1342]
synonym: "upper limb malformations and congenital cardiac anomalies" RELATED [GARD:0002614]
xref: GARD:2614 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1342/attributed", source="Orphanet:1342/ntbt", source="Orphanet:1342"}
xref: MEDGEN:333883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535853 {source="MONDO:equivalentTo"}
xref: OMIM:140450 {source="Orphanet:1342", source="MONDO:equivalentTo", source="Orphanet:1342/e"}
xref: Orphanet:1342 {source="MONDO:equivalentTo", source="OMIM:140450"}
xref: SCTID:721013001 {source="MONDO:equivalentTo"}
xref: UMLS:C1841657 {source="MEDGEN:333883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007732 {source="DC-OMIM:140450"} ! Holt-Oram syndrome
is_a: MONDO:0015161 {source="Orphanet:1342"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016432 {source="Orphanet:1342"} ! heart-hand syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:140450"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0007703
name: obsolete heart, malformation of
is_obsolete: true
replaced_by: MONDO:0009327

[Term]
id: MONDO:0007704
name: osteoarthritis susceptibility 2
subset: predisposition
synonym: "Dipoa" RELATED [OMIM:140600]
synonym: "hand osteoarthritis" RELATED [OMIM:140600]
synonym: "Heberden nodes" RELATED [OMIM:140600]
synonym: "MATN3 osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OADIP" RELATED ABBREVIATION [OMIM:140600]
synonym: "OS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:140600]
synonym: "osteoarthritis caused by mutation in MATN3" EXACT [MONDO:design_pattern]
synonym: "osteoarthritis of distal interphalangeal joints" RELATED [OMIM:140600]
synonym: "osteoarthritis susceptibility 2" EXACT [MONDO:Lexical, OMIM:140600]
synonym: "osteoarthritis susceptibility type 2" EXACT [MONDORULE:1, OMIM:140600]
xref: MEDGEN:854385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:140600 {source="MONDO:equivalentTo"}
xref: UMLS:C3887526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854385"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 ! MATN3
intersection_of: predisposes_towards MONDO:0005178 ! osteoarthritis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 {source="MONDO:mim2gene_medgen"} ! MATN3

[Term]
id: MONDO:0007705
name: Heinz body anemia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Heinz body anemias" RELATED [OMIM:140700]
synonym: "Heinz body anemias, alpha-" EXACT [OMIM:140700, OMIM:genemap2]
xref: DOID:0111363 {source="MONDO:equivalentTo"}
xref: HP:0005511 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D58.2 {source="Orphanet:178330", source="Orphanet:178330/attributed", source="Orphanet:178330/ntbt"}
xref: MedDRA:10002058 {source="Orphanet:178330", source="Orphanet:178330/e"}
xref: MEDGEN:148583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563030 {source="MONDO:equivalentTo"}
xref: OMIM:140700 {source="Orphanet:178330", source="MONDO:equivalentTo", source="Orphanet:178330/e"}
xref: Orphanet:178330 {source="OMIM:140700", source="MONDO:equivalentObsolete"}
xref: UMLS:C0700299 {source="MEDGEN:148583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="Orphanet:178330"} ! hemolytic anemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015910"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007706
name: cavernous hemangiomas of face-supraumbilical midline raphe syndrome
subset: ordo_malformation_syndrome {source="Orphanet:2124"}
subset: otar {source="MONDO:OTAR"}
synonym: "hemangiomas cavernous of face supraumbilical midline raphe" RELATED [GARD:0008524]
synonym: "hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe" RELATED [OMIM:140850]
synonym: "raphe, supraumbilical Midline, with cavernous Facial hemangiomas" RELATED [OMIM:140850]
synonym: "sternal nonunion with supraumbilical raphe" RELATED [OMIM:140850]
synonym: "supraumbilical midabdominal raphe and facial cavernous hemangiomas" RELATED [GARD:0008524]
xref: ICD10CM:D18.0 {source="Orphanet:2124", source="Orphanet:2124/attributed", source="Orphanet:2124/ntbt"}
xref: MEDGEN:99171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538144 {source="MONDO:equivalentTo"}
xref: OMIM:140850 {source="Orphanet:2124", source="MONDO:equivalentTo", source="Orphanet:2124/e"}
xref: Orphanet:2124 {source="MONDO:equivalentObsolete", source="OMIM:140850"}
xref: SCTID:234140000 {source="MONDO:equivalentTo"}
xref: UMLS:C0472694 {source="MEDGEN:99171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="GARD:0008524", source="OMIM:140850", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007707
name: hemangiomas of small intestine
def: "A hemangioma that involves the small intestine." [MONDO:patterns/location]
synonym: "hemangioma of small intestine" EXACT []
synonym: "hemangiomas of small intestine" EXACT [OMIM:140900]
synonym: "small intestine hemangioma" EXACT [MONDO:patterns/location]
xref: MEDGEN:331098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564201 {source="MONDO:equivalentTo"}
xref: OMIM:140900 {source="MONDO:equivalentTo"}
xref: UMLS:C1841654 {source="MEDGEN:331098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0007708
name: Kasabach-Merritt syndrome
def: "Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma." [Orphanet:2330]
subset: gard_rare {source="GARD:70", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1320"}
subset: ordo_clinical_situation {source="Orphanet:2330"}
subset: ordo_disorder {source="Orphanet:2330"}
subset: orphanet_rare {source="Orphanet:2330"}
subset: rare
synonym: "hemangioma thrombocytopenia syndrome" RELATED [GARD:0000070]
synonym: "hemangioma-hemorrhage syndrome" EXACT [NCIT:C3821]
synonym: "hemangioma-thrombocytopenia syndrome" EXACT [OMIM:141000, Orphanet:2330]
synonym: "hemangiomatosis with thrombocytopenia" EXACT [NCIT:C3821]
synonym: "Kasabach Merritt phenomenon" EXACT [GARD:0000070]
synonym: "Kasabach Merritt syndrome" EXACT [GARD:0000070]
synonym: "Kasabach-Merritt Phenomenon" EXACT [NORD:1320]
synonym: "Kasabach-Merritt syndrome" EXACT [OMIM:141000]
synonym: "KMP" RELATED ABBREVIATION [GARD:0000070]
synonym: "thrombocytopenia-hemangioma syndrome" EXACT [GARD:0000070, NCIT:C3821]
synonym: "thrombopenia-hemangioma syndrome" EXACT [NCIT:C3821]
xref: GARD:70 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:2330", source="Orphanet:2330/ntbt"}
xref: ICD9:287.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10058423 {source="Orphanet:2330", source="Orphanet:2330/e"}
xref: MEDGEN:65122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059885 {source="MONDO:equivalentTo"}
xref: NANDO:2100297 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201035 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3821 {source="MONDO:equivalentTo"}
xref: NORD:1320 {source="MONDO:NORD"}
xref: OMIM:141000 {source="Orphanet:2330", source="MONDO:equivalentTo", source="Orphanet:2330/e", source="GARD:0000070"}
xref: Orphanet:2330 {source="MONDO:equivalentTo", source="OMIM:141000", source="GARD:0000070"}
xref: SCTID:86635005 {source="MONDO:equivalentTo"}
xref: UMLS:C0221025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65122"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease

[Term]
id: MONDO:0007709
name: hematuria, benign familial, 1
synonym: "BFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:141200]
synonym: "hematuria, benign familial" BROAD [MONDO:Lexical, OMIM:141200]
synonym: "hematuria, familial benign" BROAD [OMIM:141200, OMIM:genemap2]
synonym: "thin membrane nephropathy" RELATED [OMIM:141200]
synonym: "thin-basement-membrane nephropathy" RELATED [OMIM:141200]
xref: OMIM:141200 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0957317 {source="OMIMPS:141200"} ! hematuria, benign familial
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2204 {source="MONDO:mim2gene_medgen"} ! COL4A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007710
name: facial hemiatrophy
def: "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved." [Orphanet:1214]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:7338", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1214"}
subset: orphanet_rare {source="Orphanet:1214"}
subset: rare
synonym: "hemifacial atrophy" EXACT [Orphanet:1214]
synonym: "hemifacial atrophy, progressive" RELATED [MONDO:Lexical, OMIM:141300]
synonym: "HFA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:141300]
synonym: "parry-Romberg syndrome" EXACT [DOID:1757, OMIM:141300, Orphanet:1214]
synonym: "PHA" RELATED ABBREVIATION [Orphanet:1214]
synonym: "progressive facial hemiatrophy" EXACT [Orphanet:1214]
synonym: "progressive hemifacial atrophy" EXACT [NCIT:C116916]
synonym: "Romberg hemi-facial atrophy" RELATED [GARD:0007338]
synonym: "Romberg syndrome" EXACT [Orphanet:1214]
xref: DOID:1757 {source="MONDO:equivalentTo"}
xref: GARD:7338 {source="MONDO:GARD"}
xref: ICD10CM:G51.8 {source="Orphanet:1214", source="Orphanet:1214/ntbt"}
xref: MEDGEN:8761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005150 {source="MONDO:equivalentTo", source="DOID:1757"}
xref: NCIT:C116916 {source="MONDO:equivalentTo", source="DOID:1757"}
xref: NCIT:C84703 {source="MONDO:otherHierarchy", source="DOID:1757"}
xref: OMIM:141300 {source="MONDO:equivalentTo", source="Orphanet:1214", source="DOID:1757", source="Orphanet:1214/e"}
xref: Orphanet:1214 {source="MONDO:equivalentTo", source="OMIM:141300"}
xref: SCTID:29868009 {source="DOID:1757"}
xref: SCTID:718224004 {source="MONDO:equivalentTo"}
xref: SCTID:95834000 {source="DOID:1757"}
xref: UMLS:C0015458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8761"}
is_a: MONDO:0002098 {source="DOID:1757", source="MESH:D005150"} ! facial nerve disorder
is_a: MONDO:0002254 {source="NCIT:C116916"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0007711
name: Bencze syndrome
def: "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." [Orphanet:1241]
subset: gard_rare {source="GARD:2633", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1241"}
subset: ordo_malformation_syndrome {source="Orphanet:1241"}
subset: orphanet_rare {source="Orphanet:1241"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bencze syndrome" EXACT [GARD:0002633, OMIM:141350]
synonym: "hemifacial hyperplasia strabismus" RELATED [GARD:0002633]
synonym: "hemifacial hyperplasia with strabismus" RELATED [OMIM:141350]
synonym: "hemifacial hyperplasia-strabismus syndrome" EXACT [Orphanet:1241]
xref: GARD:2633 {source="MONDO:GARD"}
xref: ICD10CM:Q67.4 {source="Orphanet:1241", source="Orphanet:1241/attributed", source="Orphanet:1241/ntbt"}
xref: MEDGEN:330655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564199 {source="MONDO:equivalentTo"}
xref: OMIM:141350 {source="Orphanet:1241", source="GARD:0002633", source="MONDO:equivalentTo", source="Orphanet:1241/e"}
xref: Orphanet:1241 {source="GARD:0002633", source="MONDO:equivalentTo", source="OMIM:141350"}
xref: SCTID:733046006 {source="MONDO:equivalentTo"}
xref: UMLS:C1841640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330655"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1241"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus" xsd:anyURI {source="GARD:0002633"}

[Term]
id: MONDO:0007712
name: oculoauriculovertebral spectrum with radial defects
def: "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." [Orphanet:2549]
subset: gard_rare {source="GARD:3653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2549"}
subset: ordo_malformation_syndrome {source="Orphanet:2549"}
subset: orphanet_rare {source="Orphanet:2549"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Goldenhar syndrome with ipsilateral radial defect" RELATED [OMIM:141400]
synonym: "hemifacial microsomia with radial defects" RELATED [OMIM:141400]
synonym: "hemifacial microsomia-radial defects syndrome" EXACT [Orphanet:2549]
synonym: "microsomia hemifacial radial defects" RELATED [GARD:0003653]
synonym: "Moeschler Clarren syndrome" RELATED [GARD:0003653]
synonym: "Moeschler-Clarren syndrome" EXACT [Orphanet:2549]
synonym: "Oavs with radial defect" RELATED [OMIM:141400]
synonym: "oculoauriculovertebral spectrum with radial defect" RELATED [OMIM:141400]
xref: GARD:3653 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:2549/attributed", source="Orphanet:2549/ntbt", source="Orphanet:2549"}
xref: MEDGEN:67392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:141400 {source="Orphanet:2549/e", source="MONDO:equivalentTo", source="Orphanet:2549"}
xref: Orphanet:2549 {source="MONDO:equivalentTo", source="OMIM:141400"}
xref: SCTID:726722009 {source="MONDO:equivalentTo"}
xref: UMLS:C0220681 {source="MEDGEN:67392", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015161 {source="Orphanet:2549"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007713
name: clonic hemifacial spasm
subset: gard_rare {source="GARD:17137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221083"}
subset: orphanet_rare {source="Orphanet:221083"}
subset: rare
synonym: "facial hemispasm" EXACT [Orphanet:221083]
synonym: "focal myoclonus of face" EXACT [Orphanet:221083]
synonym: "hemifacial spasm" RELATED [Orphanet:221083]
synonym: "hemifacial spasm, familial" RELATED [OMIM:141405]
xref: GARD:17137 {source="MONDO:GARD"}
xref: ICD10CM:G51.3 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"}
xref: icd11.foundation:353312397 {source="MONDO:equivalentTo", source="Orphanet:221083", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:374760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564198 {source="MONDO:equivalentTo"}
xref: OMIM:141405 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"}
xref: Orphanet:221083 {source="OMIM:141405", source="MONDO:equivalentTo"}
xref: UMLS:C1841639 {source="MONDO:equivalentTo", source="MEDGEN:374760", source="MONDO:MEDGEN"}
is_a: MONDO:0002098 {source="ICD10CM:G51.3", source="https://orcid.org/0000-0001-5208-3432"} ! facial nerve disorder
is_a: MONDO:0005395 {source="https://orcid.org/0000-0002-4142-7153"} ! movement disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0007714
name: obsolete migraine, familial hemiplegic, 1
is_obsolete: true
consider: MONDO:0000700
consider: MONDO:0020756

[Term]
id: MONDO:0007715
name: hemolytic poikilocytic anemia due to reduced ankyrin binding sites
synonym: "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" EXACT [OMIM:141700]
xref: MEDGEN:330649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564197 {source="MONDO:equivalentTo"}
xref: OMIM:141700 {source="MONDO:equivalentTo"}
xref: UMLS:C1841622 {source="MEDGEN:330649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007716
name: alpha thalassemia-intellectual disability syndrome type 1
def: "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." [Orphanet:98791]
subset: gard_rare {source="GARD:16862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1879"}
subset: ordo_disorder {source="Orphanet:98791"}
subset: orphanet_rare {source="Orphanet:98791"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha thalassemia-intellectual disability syndrome" EXACT [Orphanet:98791]
synonym: "Alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [Orphanet:98791]
synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [DOID:0110029]
synonym: "Alpha thalassemia-mental retardation syndrome" EXACT DEPRECATED [Orphanet:98791]
synonym: "alpha thalassemia-retardation syndrome" EXACT [DOID:0110029]
synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT [DOID:0110029]
synonym: "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16" EXACT [MONDORULE:2, Orphanet:98791]
synonym: "ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related" RELATED [OMIM:141750]
synonym: "Alpha-thalassemia/intellectual disability syndrome, deletion-type" RELATED [OMIM:141750]
synonym: "alpha-thalassemia/intellectual disability syndrome, deletion-type" EXACT [DOID:0110029]
synonym: "alpha-thalassemia/intellectual disability syndrome, type 1" EXACT [DOID:0110029]
synonym: "ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related" RELATED DEPRECATED [OMIM:141750]
synonym: "Alpha-thalassemia/mental retardation syndrome, deletion-type" RELATED DEPRECATED [OMIM:141750]
synonym: "alpha-thalassemia/mental retardation syndrome, deletion-type" EXACT DEPRECATED [DOID:0110029]
synonym: "alpha-thalassemia/mental retardation syndrome, type 1" EXACT DEPRECATED [DOID:0110029]
synonym: "ATR syndrome linked to chromosome 16" EXACT [DOID:0110029, Orphanet:98791]
synonym: "ATR syndrome, deletion type" EXACT [DOID:0110029, Orphanet:98791]
synonym: "ATR, deletion-type" RELATED [OMIM:141750]
synonym: "ATR-16 Syndrome" EXACT [NORD:1879]
synonym: "ATR-16 syndrome" EXACT [DOID:0110029, OMIM:141750, Orphanet:98791]
synonym: "chromosome 16P deletion syndrome" RELATED [OMIM:141750]
synonym: "Haemoglobin H-related intellectual disability" RELATED OMO:0003005 []
synonym: "Haemoglobin H-related mental retardation" RELATED OMO:0003005 []
synonym: "Hemoglobin H-related intellectual disability" RELATED [OMIM:141750]
synonym: "Hemoglobin H-related mental retardation" RELATED DEPRECATED [OMIM:141750]
synonym: "intellectual disability with Haemoglobin H" RELATED OMO:0003005 []
synonym: "intellectual disability with Hemoglobin H" RELATED [OMIM:141750]
synonym: "mental retardation with Haemoglobin H" RELATED OMO:0003005 []
synonym: "mental retardation with Hemoglobin H" RELATED DEPRECATED [OMIM:141750]
xref: DECIPHER:65 {source="MONDO:equivalentTo"}
xref: DOID:0110029 {source="MONDO:equivalentTo"}
xref: GARD:16862 {source="MONDO:GARD"}
xref: ICD10CM:D56.0 {source="DOID:0110029", source="MONDO:relatedTo", source="Orphanet:98791/attributed", source="Orphanet:98791/ntbt", source="Orphanet:98791"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:162892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563050 {source="MONDO:equivalentTo"}
xref: NORD:1879 {source="MONDO:NORD"}
xref: OMIM:141750 {source="DOID:0110029", source="Orphanet:98791/e", source="MONDO:equivalentTo", source="Orphanet:98791"}
xref: Orphanet:98791 {source="DOID:0110029", source="MONDO:equivalentTo", source="OMIM:141750"}
xref: SCTID:277918006 {source="MONDO:equivalentTo"}
xref: UMLS:C0795917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162892"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0016894 {source="Orphanet:98791"} ! partial deletion of the short arm of chromosome 16
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:98791", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI

[Term]
id: MONDO:0007717
name: hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain
synonym: "HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain" RELATED [OMIM:142309]
xref: MEDGEN:333610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:142309 {source="MONDO:equivalentTo"}
xref: UMLS:C1840647 {source="MEDGEN:333610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007718
name: hepatic adenomas, familial
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hepatic adenoma, somatic" EXACT [OMIM:142330, OMIM:genemap2]
synonym: "hepatic adenomas, familial" EXACT [OMIM:142330]
synonym: "liver cell adenomas, familial" RELATED [OMIM:142330]
xref: DOID:0111366 {source="MONDO:equivalentTo"}
xref: MEDGEN:374515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564190 {source="MONDO:equivalentTo"}
xref: OMIM:142330 {source="MONDO:equivalentTo"}
xref: UMLS:C1840646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374515"}
is_a: MONDO:0018902 ! hepatocellular adenoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 {source="MONDO:mim2gene_medgen"} ! HNF1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007719
name: diaphragmatic hernia 1
subset: gard_rare {source="MONDO:GARD"}
subset: prototype_pattern
subset: rare
synonym: "diaphragm, complete agenesis of" RELATED [OMIM:142340]
synonym: "diaphragm, unilateral agenesis of" RELATED [OMIM:142340]
synonym: "diaphragmatic defect, congenital" RELATED [OMIM:142340]
synonym: "diaphragmatic hernia, congenital" RELATED [OMIM:142340]
synonym: "diaphragmatic hernia, congenital 1" EXACT [OMIM:142340]
synonym: "DIH1" RELATED ABBREVIATION []
synonym: "hemidiaphragm, agenesis of" RELATED [OMIM:142340]
synonym: "hernia, congenital diaphragmatic" RELATED [OMIM:142340]
synonym: "hernia, congenital diaphragmatic 1" EXACT [OMIM:142340, OMIM:genemap2]
xref: MEDGEN:327154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:142340 {source="MONDO:equivalentTo"}
xref: Orphanet:2140 {source="OMIM:142340"}
xref: UMLS:C1840643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327154"}
is_a: MONDO:0005711 {source="DC-OMIM:142340", source="OMIM:142340"} ! congenital diaphragmatic hernia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007720
name: hernia, double inguinal
synonym: "hernia, double inguinal" EXACT [OMIM:142350]
xref: MEDGEN:163567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563164 {source="MONDO:equivalentTo"}
xref: OMIM:142350 {source="MONDO:equivalentTo"}
xref: UMLS:C0860251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163567"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007721
name: hiatus hernia
def: "Herniation of the upper part of the stomach through the diaphragm." [NCIT:P378]
synonym: "diaphragmatic - hiatus -hernia" EXACT [DOID:12642]
synonym: "hernia, hiatus" RELATED [OMIM:142400]
synonym: "hiatal hernia" EXACT [DOID:12642, OMIM:142400]
synonym: "hiatus hernia" EXACT [MONDO:ambiguous]
synonym: "hiatus hernia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12642 {source="MONDO:equivalentTo"}
xref: HP:0002036 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K44 {source="DOID:12642"}
xref: MEDGEN:483347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006551 {source="MONDO:equivalentTo", source="DOID:12642"}
xref: NCIT:C98945 {source="MONDO:equivalentTo", source="DOID:12642"}
xref: OMIM:142400 {source="MONDO:equivalentTo", source="DOID:12642"}
xref: SCTID:155748004 {source="DOID:12642"}
xref: SCTID:196901006 {source="DOID:12642"}
xref: SCTID:196910003 {source="DOID:12642"}
xref: SCTID:196914007 {source="DOID:12642"}
xref: SCTID:236053002 {source="DOID:12642"}
xref: SCTID:266511003 {source="DOID:12642"}
xref: SCTID:309811003 {source="DOID:12642"}
xref: SCTID:3662000 {source="DOID:12642"}
xref: SCTID:84089009 {source="MONDO:equivalentTo", source="DOID:12642"}
xref: UMLS:C3489393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483347"}
is_a: MONDO:0004298 {source="DOID:12642"} ! stomach disorder
property_value: IAO:0000589 "hiatus hernia (disease)" xsd:string

[Term]
id: MONDO:0007722
name: heterochromia iridis
synonym: "heterochromia iridis" EXACT [MONDO:ambiguous, OMIM:142500]
synonym: "heterochromia iridis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0001100 {source="MONDO:otherHierarchy"}
xref: MEDGEN:98395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538115 {source="MONDO:equivalentTo"}
xref: OMIM:142500 {source="MONDO:equivalentTo"}
xref: UMLS:C0423318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98395"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "heterochromia iridis (disease)" xsd:string

[Term]
id: MONDO:0007723
name: Hirschsprung disease, susceptibility to, 1
def: "An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "aganglionic megacolon" BROAD [OMIM:142623]
synonym: "Hirschsprung disease" BROAD [OMIM:142623]
synonym: "Hirschsprung disease caused by mutation in RET" EXACT []
synonym: "Hirschsprung disease, protection against" RELATED [OMIM:142623]
synonym: "Hirschsprung disease, susceptibility to, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:142623]
synonym: "Hirschsprung disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:142623]
synonym: "HSCR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:142623]
synonym: "megacolon, aganglionic" BROAD [OMIM:142623]
synonym: "RET Hirschsprung disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to Hirschsprung disease 1" EXACT [OMIM:142623]
xref: MEDGEN:854827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:142623 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:142623"}
xref: UMLS:C3888239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854827"}
is_a: MONDO:0100179 {source="DC-OMIM:142623", source="MONDO:Redundant", source="OMIM:142623"} ! Hirschsprung disease, susceptibility to
intersection_of: MONDO:0100179 ! Hirschsprung disease, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 ! RET
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 {source="MONDO:mim2gene_medgen"} ! RET
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0007724
name: hirsutism-skeletal dysplasia-intellectual disability syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:2156"}
subset: rare
synonym: "hirsutism skeletal dysplasia intellectual disability syndrome" RELATED [GARD:0005566]
synonym: "hirsutism skeletal dysplasia mental retardation syndrome" RELATED DEPRECATED [GARD:0005566]
synonym: "hirsutism, skeletal dysplasia, and intellectual disability" RELATED [OMIM:142625]
synonym: "hirsutism, skeletal dysplasia, and mental retardation" RELATED DEPRECATED [OMIM:142625]
synonym: "Wiedemann Oldigs Oppermann syndrome" RELATED [GARD:0005566]
synonym: "Wiedemann-Oldigs-Oppermann syndrome" EXACT [Orphanet:2156]
xref: ICD10CM:Q87.8 {source="Orphanet:2156/attributed", source="Orphanet:2156/ntbt", source="Orphanet:2156"}
xref: MEDGEN:163202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536705 {source="MONDO:equivalentTo"}
xref: OMIM:142625 {source="Orphanet:2156", source="MONDO:equivalentTo", source="Orphanet:2156/e"}
xref: Orphanet:2156 {source="OMIM:142625", source="MONDO:equivalentObsolete"}
xref: UMLS:C0795976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163202"}
is_a: MONDO:0015159 {source="Orphanet:2156"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2156", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0007725
name: hereditary progressive mucinous histiocytosis
def: "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis." [Orphanet:158025]
subset: gard_rare {source="GARD:16989", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158025"}
subset: orphanet_rare {source="Orphanet:158025"}
subset: rare
synonym: "histiocytosis, progressive mucinous" RELATED [OMIM:142630]
xref: GARD:16989 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158025", source="Orphanet:158025/ntbt"}
xref: MEDGEN:326771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564186 {source="MONDO:equivalentTo"}
xref: OMIM:142630 {source="Orphanet:158025", source="MONDO:equivalentTo", source="Orphanet:158025/e"}
xref: Orphanet:158025 {source="MONDO:equivalentTo", source="OMIM:142630"}
xref: UMLS:C1840586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326771"}
is_a: MONDO:0015531 {source="Orphanet:158025"} ! non-Langerhans cell histiocytosis

[Term]
id: MONDO:0007726
name: hip dysplasia, Beukes type
def: "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." [Orphanet:2114]
subset: gard_rare {source="GARD:2690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2114"}
subset: orphanet_rare {source="Orphanet:2114"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beukes familial hip dysplasia" EXACT [OMIM:142669, Orphanet:2114]
synonym: "Beukes hip dysplasia" RELATED [MONDO:Lexical, OMIM:142669]
synonym: "BFHD" EXACT ABBREVIATION [Orphanet:2114]
synonym: "BHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:142669]
synonym: "Cilliers-Beighton syndrome" EXACT [Orphanet:2114]
synonym: "hip dysplasia Beukes type" RELATED [GARD:0002690]
synonym: "hip dysplasia, Beukes type" EXACT [OMIM:142669]
synonym: "osteoarthropathy, premature degenerative, of hip" RELATED [OMIM:142669]
synonym: "premature degenerative osteoarthropathy of the hip" EXACT [Orphanet:2114]
xref: DOID:0111367 {source="MONDO:equivalentTo"}
xref: GARD:2690 {source="MONDO:GARD"}
xref: ICD10CM:Q65.8 {source="Orphanet:2114/attributed", source="Orphanet:2114/ntbt", source="Orphanet:2114"}
xref: MEDGEN:333593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564185 {source="MONDO:equivalentTo"}
xref: OMIM:142669 {source="Orphanet:2114", source="MONDO:equivalentTo", source="Orphanet:2114/e"}
xref: Orphanet:2114 {source="OMIM:142669", source="MONDO:equivalentTo"}
xref: SCTID:721148005 {source="MONDO:equivalentTo"}
xref: UMLS:C1840572 {source="MEDGEN:333593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25640 {source="MONDO:mim2gene_medgen"} ! UFSP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007727
name: autosomal dominant familial periodic fever
def: "A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis." [https://orcid.org/0000-0001-5208-3432, Orphanet:32960]
subset: gard_rare {source="GARD:8457", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1804", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:32960"}
subset: orphanet_rare {source="Orphanet:32960"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial Hibernian fever" EXACT [DOID:0090018, OMIM:142680, Orphanet:32960]
synonym: "FHF" EXACT ABBREVIATION [GARD:0008457]
synonym: "FPF" RELATED ABBREVIATION [OMIM:142680]
synonym: "Hibernian fever, familial" EXACT [OMIM:142680]
synonym: "periodic FEVER, familial, autosomal dominant" RELATED [OMIM:142680]
synonym: "TNF receptor 1-associated periodic syndrome" EXACT [DOID:0090018, Orphanet:32960]
synonym: "TNF receptor-associated periodic fever syndrome" EXACT CLINGEN_LABEL [GARD:0008457, https://orcid.org/0000-0002-0146-1162]
synonym: "TNF receptor-associated periodic syndrome" EXACT [OMIM:142680]
synonym: "TRAPS" EXACT ABBREVIATION [https://orcid.org/0000-0002-0146-1162, NCIT:C119051]
synonym: "TRAPS syndrome" EXACT [Orphanet:32960]
synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT [DOID:0090018]
synonym: "tumor necrosis factor receptor 1-associated periodic syndrome" EXACT [NCIT:C119051]
synonym: "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome" EXACT [NORD:1804]
synonym: "tumor necrosis factor receptor-associated periodic syndrome" EXACT [NORD:1804, OMIM:142680]
synonym: "tumour necrosis factor receptor 1 associated periodic syndrome" EXACT OMO:0003005 []
synonym: "tumour necrosis factor receptor 1-associated periodic syndrome" EXACT OMO:0003005 []
synonym: "tumour necrosis factor receptor-associated periodic syndrome" EXACT OMO:0003005 []
xref: DOID:0090018 {source="MONDO:equivalentTo"}
xref: GARD:8457 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:32960", source="Orphanet:32960/attributed", source="Orphanet:32960/ntbt", source="DOID:0090018"}
xref: icd11.foundation:1869883509 {source="Orphanet:32960", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:226899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536657 {source="MONDO:equivalentTo"}
xref: NANDO:1200472 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200433 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119051 {source="MONDO:equivalentTo"}
xref: NORD:1804 {source="MONDO:NORD"}
xref: OMIM:142680 {source="Orphanet:32960", source="MONDO:equivalentTo", source="Orphanet:32960/e", source="DOID:0090018"}
xref: Orphanet:32960 {source="MONDO:equivalentTo", source="OMIM:142680", source="DOID:0090018"}
xref: SCTID:403833009 {source="MONDO:equivalentTo"}
xref: UMLS:C1275126 {source="MEDGEN:226899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0015137 {source="https://orcid.org/0000-0001-5208-3432"} ! periodic fever syndrome
is_a: MONDO:0017953 {source="MESH:C536657", source="Orphanet:32960"} ! hereditary periodic fever syndrome
is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119051", source="Orphanet:32960/inferred", source="PMID:23827249", source="PMID:35883675", source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0007179 {source="DOID:0090018", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11916 {source="MONDO:mim2gene_medgen"} ! TNFRSF1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0007728
name: acne inversa, familial, 1
def: "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene." [MONDO:patterns/disease_series_by_gene]
subset: otar {source="MONDO:OTAR"}
synonym: "acne inversa, familial" RELATED [OMIM:142690]
synonym: "acne inversa, familial, 1" EXACT [MONDO:Lexical, OMIM:142690]
synonym: "acne inversa, familial, type 1" EXACT [MONDORULE:1, OMIM:142690]
synonym: "ACNINV1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:142690]
synonym: "familial acne inversa caused by mutation in NCSTN" EXACT [MONDO:design_pattern]
synonym: "hidradenitis suppurativa, familial" RELATED [OMIM:142690]
synonym: "NCSTN familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:1631104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:142690 {source="MONDO:equivalentTo"}
xref: Orphanet:387 {source="OMIM:142690"}
xref: UMLS:C4551962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631104"}
is_a: MONDO:0024516 {source="MONDO:Redundant", source="OMIM:142690"} ! familial acne inversa
intersection_of: MONDO:0024516 ! familial acne inversa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17091 ! NCSTN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17091 {source="MONDO:mim2gene_medgen"} ! NCSTN

[Term]
id: MONDO:0007729
name: developmental dysplasia of the hip 1
subset: prototype_pattern
synonym: "acetabular dysplasia" BROAD [OMIM:142700]
synonym: "DDH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:142700]
synonym: "developmental dysplasia of the hip 1" EXACT [MONDO:Lexical, OMIM:142700]
synonym: "hip dysplasia, congenital" BROAD [OMIM:142700]
synonym: "hip dysplasia, developmental" RELATED [OMIM:142700]
xref: DOID:0060931 {source="MONDO:equivalentTo"}
xref: MEDGEN:266288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:142700 {source="MONDO:equivalentTo"}
xref: UMLS:C1306065 {source="MEDGEN:266288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000158 {source="DC-OMIM:142700", source="OMIM:142700"} ! developmental dysplasia of the hip
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007730
name: histiocytic dermatoarthritis
synonym: "histiocytic dermatoarthritis" EXACT [OMIM:142730]
xref: MEDGEN:327131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564183 {source="MONDO:equivalentTo"}
xref: OMIM:142730 {source="MONDO:equivalentTo"}
xref: UMLS:C1840551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327131"}
is_a: MONDO:0003847 {source="MESH:C564183/inferred"} ! hereditary disease

[Term]
id: MONDO:0007731
name: obsolete HLA modifier
synonym: "HLA modifier" RELATED [OMIM:142770]
xref: OMIM:142770 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0007732
name: Holt-Oram syndrome
def: "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." [Orphanet:392]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1248"}
subset: ordo_disorder {source="Orphanet:392"}
subset: ordo_malformation_syndrome {source="Orphanet:392"}
subset: orphanet_rare {source="Orphanet:392"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrio digital syndrome" BROAD [GARD:0006666]
synonym: "atrio-digital syndrome" BROAD [DOID:0060468]
synonym: "atriodigital dysplasia" BROAD [DOID:0060468, OMIM:142900]
synonym: "atriodigital dysplasia type 1" EXACT [Orphanet:392]
synonym: "Cardiac-limb syndrome" RELATED [GARD:0006666]
synonym: "heart-hand syndrome" BROAD [DOID:0060468, OMIM:142900]
synonym: "heart-hand syndrome type 1" EXACT [Orphanet:392]
synonym: "heart-hand syndrome, type 1" RELATED [GARD:0006666]
synonym: "Holt Oram Syndrome" EXACT [NORD:1248]
synonym: "HOLT-Oram syndrome" EXACT [OMIM:142900]
synonym: "Holt-Oram syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:142900]
synonym: "HOS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:142900, Orphanet:392]
synonym: "HOS 1" RELATED [GARD:0006666]
synonym: "Hos1" RELATED [OMIM:142900]
synonym: "ventriculo-radial syndrome" RELATED [GARD:0006666]
xref: DOID:0060468 {source="MONDO:equivalentTo"}
xref: GARD:6666 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:392/inclusion", source="DOID:0060468", source="Orphanet:392", source="Orphanet:392/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10050469 {source="Orphanet:392", source="Orphanet:392/e"}
xref: MEDGEN:120524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535326 {source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392", source="Orphanet:392/e"}
xref: NCIT:C125592 {source="MONDO:equivalentTo"}
xref: NORD:1248 {source="MONDO:NORD"}
xref: OMIM:142900 {source="DOID:0060468", source="MONDO:equivalentTo", source="Orphanet:392", source="Orphanet:392/e"}
xref: Orphanet:392 {source="OMIM:142900", source="DOID:0060468", source="MONDO:equivalentTo"}
xref: SCTID:19092004 {source="DOID:0060468", source="MONDO:equivalentTo"}
xref: SCTID:205814003 {source="DOID:0060468"}
xref: UMLS:C0265264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120524"}
is_a: MONDO:0000426 {source="DOID:0060468", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125592"} ! syndromic disease
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015161 {source="Orphanet:392"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016432 {source="Orphanet:392"} ! heart-hand syndrome
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:142900", source="Orphanet:392"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11604 {source="MONDO:mim2gene_medgen"} ! TBX5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007733
name: holoprosencephaly 3
def: "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLP3" EXACT ABBREVIATION [DOID:0110875]
synonym: "Hlp3" RELATED [OMIM:142945]
synonym: "holoprosencephaly 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:142945]
synonym: "holoprosencephaly caused by mutation in SHH" EXACT []
synonym: "holoprosencephaly caused by mutation in Shh" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 3" EXACT [DOID:0110875, MONDORULE:1, OMIM:142945]
synonym: "HPE3" EXACT ABBREVIATION [DOID:0110875, MONDO:Lexical, OMIM:142945]
synonym: "SHH holoprosencephaly" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Shh holoprosencephaly" EXACT [MONDO:design_pattern]
xref: DOID:0110875 {source="MONDO:equivalentTo"}
xref: MEDGEN:327125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564181 {source="MONDO:equivalentTo"}
xref: OMIM:142945 {source="DOID:0110875", source="MONDO:equivalentTo"}
xref: Orphanet:2162 {source="OMIM:142945"}
xref: UMLS:C1840529 {source="MEDGEN:327125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016296 {source="DC-OMIM:142945", source="DOID:0110875", source="MESH:C564181", source="MONDO:Redundant", source="OMIM:142945"} ! holoprosencephaly
intersection_of: MONDO:0016296 ! holoprosencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 ! SHH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 {source="MONDO:mim2gene_medgen"} ! SHH

[Term]
id: MONDO:0007734
name: holoprosencephaly 4
def: "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis." [NCIT:C75475]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "holoprosencephaly 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:142946]
synonym: "holoprosencephaly caused by mutation in TGIF1" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 4" EXACT [DOID:0110880, MONDORULE:1, OMIM:142946]
synonym: "HPE4" EXACT ABBREVIATION [DOID:0110880, MONDO:Lexical, OMIM:142946]
synonym: "TGIF1 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110880 {source="MONDO:equivalentTo"}
xref: MEDGEN:374488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564180 {source="MONDO:equivalentTo"}
xref: NCIT:C75475 {source="MONDO:equivalentTo"}
xref: OMIM:142946 {source="MONDO:equivalentTo", source="DOID:0110880"}
xref: Orphanet:2162 {source="OMIM:142946"}
xref: UMLS:C1840528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374488"}
is_a: MONDO:0016296 {source="DC-OMIM:142946", source="DOID:0110880", source="MESH:C564180", source="MONDO:Redundant", source="NCIT:C75475", source="OMIM:142946"} ! holoprosencephaly
intersection_of: MONDO:0016296 ! holoprosencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11776 ! TGIF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11776 {source="MONDO:mim2gene_medgen"} ! TGIF1

[Term]
id: MONDO:0007735
name: congenital Horner syndrome
def: "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported." [Orphanet:91413]
subset: gard_rare {source="GARD:6670", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91413"}
subset: orphanet_rare {source="Orphanet:91413"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital Claude-Bernard-Horner syndrome" EXACT [Orphanet:91413]
synonym: "congenital Horner syndrome" EXACT [MONDO:ambiguous]
synonym: "congenital Horner syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "HORNER syndrome, congenital" RELATED [OMIM:143000]
xref: GARD:6670 {source="MONDO:GARD"}
xref: HP:0006837 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G90.2 {source="Orphanet:91413/attributed", source="Orphanet:91413/ntbt", source="Orphanet:91413"}
xref: MEDGEN:327111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564178 {source="MONDO:equivalentTo"}
xref: OMIM:143000 {source="Orphanet:91413/e", source="MONDO:equivalentTo", source="Orphanet:91413"}
xref: Orphanet:91413 {source="MONDO:equivalentTo", source="OMIM:143000"}
xref: UMLS:C1840475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327111"}
is_a: MONDO:0001294 {source="https://orcid.org/0000-0001-5208-3432"} ! Horner syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000589 "congenital Horner syndrome (disease)" xsd:string

[Term]
id: MONDO:0007736
name: obsolete HPA 1 Recognition polymorphism, beta-globin-related
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7391" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011382

[Term]
id: MONDO:0007737
name: humeroradial synostosis
def: "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present." [Orphanet:3265]
subset: gard_rare {source="GARD:2748", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3265"}
subset: ordo_morphological_anomaly {source="Orphanet:3265"}
subset: orphanet_rare {source="Orphanet:3265"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "humero-radial fusion" EXACT [DOID:0060467, Orphanet:3265]
synonym: "humero-radial synostosis" RELATED [Orphanet:3265]
synonym: "humeroradial synostosis" EXACT [MONDO:ambiguous]
synonym: "humeroradial synostosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060467 {source="MONDO:equivalentTo"}
xref: GARD:2748 {source="MONDO:GARD"}
xref: HP:0003041 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q74.0 {source="Orphanet:3265", source="Orphanet:3265/attributed", source="Orphanet:3265/ntbt", source="DOID:0060467"}
xref: icd11.foundation:518723993 {source="Orphanet:3265", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:418931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:143050 {source="Orphanet:3265", source="MONDO:equivalentTo", source="DOID:0060467", source="Orphanet:3265/e"}
xref: Orphanet:3265 {source="OMIM:143050", source="MONDO:equivalentTo", source="DOID:0060467"}
xref: SCTID:205329008 {source="MONDO:equivalentTo"}
xref: UMLS:C2930865 {source="MEDGEN:418931", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001411 {source="DOID:0060467"} ! synostosis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000589 "humeroradial synostosis (disease)" xsd:string

[Term]
id: MONDO:0007738
name: spondyloepiphyseal dysplasia with congenital joint dislocations
def: "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." [Orphanet:263463]
subset: gard_rare {source="GARD:13169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263463"}
subset: orphanet_rare {source="Orphanet:263463"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bifurcation of distal humerus with oligoectro-syndactyly" RELATED [GARD:0002533, MESH:C537283]
synonym: "chondrodysplasia with congenital joint dislocations, CHST3 type" EXACT [Orphanet:263463]
synonym: "chondrodysplasia with multiple dislocations" EXACT [DOID:0050813, OMIM:143095]
synonym: "CHST3-related skeletal dysplasia" EXACT [DOID:0050813]
synonym: "Gollop Coates syndrome" RELATED [GARD:0002533]
synonym: "humero-spinal dysostosis with congenital heart disease" EXACT [DOID:0050813]
synonym: "Humerospinal dysostosis" EXACT [DOID:0050813, OMIM:143095]
synonym: "Kozlowski Celermajer tink syndrome" EXACT [DOID:0050813]
synonym: "Omani type" EXACT [DOID:0050813]
synonym: "SDCD, CHST3 type" EXACT [Orphanet:263463]
synonym: "SEDCJD" RELATED ABBREVIATION [OMIM:143095]
synonym: "spondyloepiphyseal dysplasia" BROAD [DOID:0050813]
synonym: "spondyloepiphyseal dysplasia with congenital JOINT dislocations" RELATED [OMIM:143095]
synonym: "spondyloepiphyseal dysplasia with congenital joint dislocations" EXACT [OMIM:143095]
synonym: "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" EXACT [Orphanet:263463]
synonym: "spondyloepiphyseal dysplasia, Omani type" RELATED [OMIM:143095]
xref: DOID:0050813 {source="MONDO:equivalentTo"}
xref: GARD:13169 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:263463/attributed", source="Orphanet:263463/ntbt", source="Orphanet:263463"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:373381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537283 {source="MONDO:equivalentTo"}
xref: OMIM:143095 {source="GARD:0002533", source="Orphanet:263463", source="MONDO:equivalentTo", source="DOID:0050813", source="Orphanet:263463/e"}
xref: Orphanet:263463 {source="OMIM:143095", source="MONDO:equivalentTo"}
xref: SCTID:702400006 {source="MONDO:equivalentTo"}
xref: UMLS:C1837657 {source="MEDGEN:373381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease
is_a: MONDO:0016761 {source="DOID:0050813"} ! spondyloepiphyseal dysplasia
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:263463", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1971 {source="MONDO:mim2gene_medgen"} ! CHST3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome" xsd:anyURI {source="GARD:0002533"}

[Term]
id: MONDO:0007739
name: Huntington disease
def: "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." [Orphanet:399]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1256"}
subset: ordo_disorder {source="Orphanet:399"}
subset: orphanet_rare {source="Orphanet:399"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HD" EXACT ABBREVIATION [DOID:12858, MONDO:Lexical, OMIM:143100]
synonym: "Huntington chorea" EXACT [OMIM:143100, Orphanet:399]
synonym: "Huntington disease" EXACT [DOID:12858, MONDO:Lexical, OMIM:143100]
synonym: "Huntington's chorea" EXACT [DOID:12858, ICD9CM:333.4]
synonym: "Huntington's Disease" EXACT [NORD:1256]
synonym: "Huntington's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:12858 {source="MONDO:equivalentTo"}
xref: GARD:6677 {source="MONDO:GARD"}
xref: ICD10CM:G10 {source="Orphanet:399/specific", source="DOID:12858", source="Orphanet:399/e", source="Orphanet:399"}
xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: icd11.foundation:2132180242 {source="MONDO:equivalentTo", source="Orphanet:399"}
xref: ICD9:333.4 {source="DOID:12858", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10070668 {source="Orphanet:399/e", source="Orphanet:399"}
xref: MEDGEN:5654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006816 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:12858", source="Orphanet:399/e", source="MONDO:equivalentTo", source="Orphanet:399"}
xref: NANDO:1200012 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C82342 {source="DOID:12858", source="MONDO:equivalentTo"}
xref: NORD:1256 {source="MONDO:NORD"}
xref: OMIM:143100 {source="DOID:12858", source="Orphanet:399/e", source="MONDO:equivalentTo", source="Orphanet:399"}
xref: Orphanet:248111 {source="OMIM:143100"}
xref: Orphanet:399 {source="MONDO:equivalentTo", source="OMIM:143100"}
xref: SCTID:155006000 {source="DOID:12858"}
xref: SCTID:58756001 {source="DOID:12858", source="MONDO:equivalentTo"}
xref: UMLS:C0020179 {source="MEDGEN:5654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000167 {source="https://orcid.org/0000-0002-6601-2165"} ! Huntington disease and related disorders
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0005559 {source="DOID:12858", source="MONDO:Redundant", source="NCIT:C82342", source="Orphanet:399/inferred"} ! neurodegenerative disease
relationship: disease_has_feature HP:0000657 {source="https://orcid.org/0000-0002-2825-0621"} ! Oculomotor apraxia
relationship: disease_has_feature MONDO:0001627 {source="MONDO:Wikidata"} ! dementia
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4851 {source="MONDO:mim2gene_medgen"} ! HTT

[Term]
id: MONDO:0007740
name: Wagner disease
def: "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." [Orphanet:898]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:898"}
subset: orphanet_rare {source="Orphanet:898"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dominant hyaloideoretinal dystrophy of Wagner" EXACT [Orphanet:898]
synonym: "erosive vitreoretinopathy" RELATED [OMIM:143200]
synonym: "ERVR" RELATED ABBREVIATION [GARD:0007871]
synonym: "hyaloideoretinal Degeneration of Wagner" RELATED [OMIM:143200]
synonym: "VCAN-related vitreoretinopathy" EXACT [Orphanet:898]
synonym: "vitreoretinal degeneration, Wagner type" EXACT [Orphanet:898]
synonym: "Wagner disease" EXACT CLINGEN_LABEL []
synonym: "Wagner disease (formerly)" RELATED [GARD:0007871]
synonym: "Wagner syndrome" EXACT [Orphanet:898]
synonym: "Wagner syndrome 1" RELATED [OMIM:143200]
synonym: "Wagner syndrome type 1" RELATED [GARD:0007871]
synonym: "Wagner vitreoretinal Degeneration" RELATED [OMIM:143200]
synonym: "Wagner vitreoretinopathy" RELATED [MONDO:Lexical, OMIM:143200]
synonym: "WGN1" RELATED ABBREVIATION [GARD:0007871]
synonym: "WGVRP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143200]
xref: GARD:7871 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:898", source="MONDO:relatedTo", source="Orphanet:898/attributed", source="Orphanet:898/ntbt"}
xref: MedDRA:10063383 {source="Orphanet:898", source="Orphanet:898/e"}
xref: MEDGEN:326741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536075 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"}
xref: OMIM:143200 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"}
xref: Orphanet:898 {source="MONDO:equivalentTo", source="OMIM:143200"}
xref: SCTID:232064001 {source="MONDO:equivalentTo"}
xref: UMLS:C1840452 {source="MEDGEN:326741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020248 {source="Orphanet:898", source="https://orcid.org/0000-0001-5208-3432"} ! vitreoretinal degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2464 {source="MONDO:mim2gene_medgen"} ! VCAN

[Term]
id: MONDO:0007741
name: congenital hydronephrosis
def: "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." [Orphanet:2190]
comment: Editor note: TODO check relationship to OMIM:143400
subset: ordo_morphological_anomaly {source="Orphanet:2190"}
subset: otar {source="MONDO:OTAR"}
xref: ICD10CM:Q62.0 {source="MONDO:equivalentTo", source="Orphanet:2190/specific", source="Orphanet:2190", source="Orphanet:2190/e"}
xref: ICD9:753.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10050975 {source="Orphanet:2190", source="Orphanet:2190/e"}
xref: MEDGEN:78594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200176 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C102979 {source="MONDO:equivalentTo"}
xref: Orphanet:2190 {source="MONDO:equivalentObsolete", source="OMIM:143400"}
xref: SCTID:16297002 {source="MONDO:equivalentTo"}
xref: UMLS:C0266316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78594"}
is_a: MONDO:0005510 {source="NCIT:C102979"} ! hydronephrosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007742
name: 5-hydroxytryptamine oxygenase regulator
synonym: "5-HYDROXYTRYPTAMINE oxygenase regulator" RELATED [OMIM:143460]
synonym: "5-hydroxytryptamine oxygenase regulator" EXACT [MONDO:Lexical, OMIM:143460]
synonym: "HTOR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143460]
xref: MEDGEN:854659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:143460 {source="MONDO:equivalentTo"}
xref: UMLS:C3887951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854659"}
is_a: MONDO:0003847 {source="OMIM:143460/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5285 {source="MONDO:mim2gene_medgen"} ! HTOR

[Term]
id: MONDO:0007743
name: attention deficit-hyperactivity disorder
def: "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." [NCIT:C97160]
subset: otar {source="MONDO:OTAR"}
synonym: "ADHD" RELATED ABBREVIATION [MONDO:Lexical]
synonym: "attention deficit hyperactivity disorder" EXACT [NCIT:C97160]
synonym: "attention deficit-hyperactivity disorder" EXACT [MONDO:Lexical]
synonym: "attention deficit/hyperactivity disorder" EXACT [NCIT:C97160]
xref: EFO:0003888 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F90-98 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:220387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97160 {source="MONDO:equivalentTo"}
xref: UMLS:C1263846 {source="MEDGEN:220387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000592 {source="DOID:1094"} ! specific developmental disorder
is_a: MONDO:0002025 {source="NCIT:C97160"} ! psychiatric disorder
relationship: excluded_subClassOf MONDO:0005302 {source="DC-OMIM:143465", source="https://orcid.org/0000-0001-5208-3432"} ! attention deficit hyperactivity disorder, inattentive type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007744
name: cholesterol-ester transfer protein deficiency
subset: gard_rare {source="GARD:16724", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79506"}
subset: orphanet_rare {source="Orphanet:79506"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CEPT deficiency" EXACT [Orphanet:79506]
synonym: "CETP deficiency" RELATED [OMIM:143470]
synonym: "cholesterol ester transfer Protein deficiency" RELATED [OMIM:143470]
synonym: "familial hyperalphalipoproteinemia" EXACT [Orphanet:79506]
synonym: "HALP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143470]
synonym: "Hdlcq10" RELATED [OMIM:143470]
synonym: "high density lipoprotein cholesterol level QTL 10" EXACT [OMIM:143470, OMIM:genemap2]
synonym: "high density lipoprotein cholesterol level quantitative trait locus 10" RELATED [OMIM:143470]
synonym: "hyperalphalipoproteinemia" BROAD [OMIM:143470, OMIM:genemap2]
synonym: "hyperalphalipoproteinemia 1" EXACT [MONDO:Lexical, OMIM:143470]
synonym: "hyperalphalipoproteinemia type 1" EXACT [MONDORULE:1, OMIM:143470]
xref: DOID:0111368 {source="MONDO:mondoIsNarrowerThanSource"}
xref: DOID:0111369 {source="MONDO:equivalentTo"}
xref: GARD:16724 {source="MONDO:GARD"}
xref: ICD10CM:E78.4 {source="Orphanet:79506/attributed", source="Orphanet:79506/ntbt", source="Orphanet:79506"}
xref: MEDGEN:840020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:143470 {source="Orphanet:79506", source="MONDO:equivalentTo", source="Orphanet:79506/e"}
xref: Orphanet:79506 {source="OMIM:143470", source="MONDO:equivalentTo"}
xref: SCTID:15771000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C3875011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:840020"}
is_a: MONDO:0015903 {source="Orphanet:79506"} ! hyperalphalipoproteinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1869 {source="MONDO:mim2gene_medgen"} ! CETP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007745
name: Gilbert syndrome
def: "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." [NCIT:P378]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "constitutional hyperbilirubinemia" EXACT [DOID:2739]
synonym: "familial cholemia" EXACT [Orphanet:357]
synonym: "Gilbert disease" EXACT [NCIT:C84729]
synonym: "Gilbert syndrome" EXACT [OMIM:143500, OMIM:genemap2]
synonym: "Gilbert's disease" EXACT [DOID:2739]
synonym: "Gilbert's syndrome" EXACT [DOID:2739]
synonym: "Gilbert-Meulengracht syndrome" EXACT [DOID:2739]
synonym: "hereditary nonhemolytic jaundice" EXACT [DOID:2739]
synonym: "hyperbilirubinemia 1" RELATED [OMIM:143500]
synonym: "hyperbilirubinemia type 1" EXACT [Orphanet:357]
synonym: "hyperbilirubinemia, Arias type" RELATED [OMIM:143500]
synonym: "hyperbilirubinemia, Gilbert type" RELATED [OMIM:143500]
xref: DOID:2739 {source="EFO:0005556", source="MONDO:equivalentTo"}
xref: EFO:0005556 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E80.4 {source="MONDO:equivalentTo", source="DOID:2739"}
xref: MEDGEN:4891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005878 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"}
xref: NCIT:C84729 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"}
xref: OMIM:143500 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"}
xref: Orphanet:357 {source="MONDO:equivalentObsolete", source="OMIM:143500"}
xref: SCTID:154770008 {source="DOID:2739"}
xref: SCTID:267509000 {source="DOID:2739"}
xref: SCTID:27503000 {source="MONDO:equivalentTo", source="DOID:2739"}
xref: UMLS:C0017551 {source="MEDGEN:4891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84729"} ! syndromic disease
is_a: MONDO:0002408 {source="DC-OMIM:143500", source="DOID:2739", source="MESH:D005878", source="NCIT:C84729", source="OMIM:143500"} ! hereditary hyperbilirubinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12530 {source="MONDO:mim2gene_medgen"} ! UGT1A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007746
name: orthostatic hypotensive disorder, Streeten type
synonym: "hyperbradykininism" RELATED [OMIM:143850]
synonym: "OHDS" RELATED ABBREVIATION [OMIM:143850]
synonym: "orthostatic hypotensive disorder" RELATED [OMIM:143850]
synonym: "orthostatic hypotensive disorder of Streeten" EXACT [OMIM:143850, OMIM:genemap2]
synonym: "orthostatic hypotensive disorder, Streeten type" EXACT [OMIM:143850]
xref: MEDGEN:327101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564174 {source="MONDO:equivalentTo"}
xref: OMIM:143850 {source="MONDO:equivalentTo"}
xref: UMLS:C1840438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327101"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007747
name: isolated hyperchlorhidrosis
subset: gard_rare {source="GARD:17984", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:542657"}
subset: orphanet_rare {source="Orphanet:542657"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperchlorhidrosis, isolated" EXACT [OMIM:143860]
synonym: "isolated hyperchlorhidrosis" EXACT CLINGEN_LABEL []
xref: DOID:0111371 {source="MONDO:equivalentTo"}
xref: GARD:17984 {source="MONDO:GARD"}
xref: ICD9:276.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:333560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:143860 {source="MONDO:equivalentTo", source="Orphanet:542657"}
xref: Orphanet:542657 {source="MONDO:equivalentTo"}
xref: SCTID:709413001 {source="MONDO:equivalentTo"}
xref: UMLS:C1840437 {source="MEDGEN:333560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:143860/inferred"} ! hereditary disease
is_a: MONDO:0021026 {source="Orphanet:542657"} ! hereditary epidermal appendage anomaly
relationship: has_characteristic HP:0000007 {source="Orphanet:542657"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1371 {source="MONDO:mim2gene_medgen", source="Orphanet:542657"} ! CA12

[Term]
id: MONDO:0007748
name: hypercalciuria, absorptive, 2
subset: gard_rare {source="GARD:18583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143870]
synonym: "hypercalciuria, absorptive, 2" EXACT [MONDO:Lexical, OMIM:143870]
synonym: "hypercalciuria, absorptive, susceptibility to" EXACT [OMIM:143870, OMIM:genemap2]
synonym: "hypercalciuria, absorptive, type 2" EXACT [MONDORULE:1, OMIM:143870]
synonym: "hypercalciuria, familial idiopathic" RELATED [OMIM:143870]
xref: GARD:18583 {source="MONDO:GARD"}
xref: ICD9:V18.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562790 {source="MONDO:equivalentTo"}
xref: OMIM:143870 {source="MONDO:equivalentTo"}
xref: Orphanet:2197 {source="OMIM:143870"}
xref: SCTID:237886009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342639 {source="MONDO:equivalentTo", source="MEDGEN:137974", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21285 {source="MONDO:mim2gene_medgen"} ! ADCY10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0007749
name: obsolete autosomal recessive infantile hypercalcemia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2926" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000212

[Term]
id: MONDO:0007750
name: hypercholesterolemia, familial, 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FHC" RELATED ABBREVIATION [OMIM:143890]
synonym: "FHCL1" EXACT ABBREVIATION [OMIM:143890]
synonym: "hyper-low-density-lipoproteinemia" RELATED [OMIM:143890]
synonym: "hypercholesterolemia, familial" EXACT [OMIM:143890]
synonym: "hypercholesterolemia, familial, 1" EXACT CLINGEN_LABEL []
synonym: "hypercholesterolemia, familial, due to ldlr defect, modifier of" EXACT [OMIM:143890, OMIM:genemap2]
synonym: "hypercholesterolemia, familial, modifier of" EXACT [OMIM:143890, OMIM:genemap2]
synonym: "hypercholesterolemia, susceptibility to" RELATED [OMIM:143890, OMIM:genemap2]
synonym: "hypercholesterolemic xanthomatosis, familial" EXACT [OMIM:143890]
synonym: "hyperlipoproteinemia, type 2" EXACT [OMIM:143890]
synonym: "hyperlipoproteinemia, type 2A" EXACT [OMIM:143890]
synonym: "LDL cholesterol level QTL2" EXACT [OMIM:143890, OMIM:genemap2]
synonym: "LDL receptor disorder" EXACT [OMIM:143890]
synonym: "low density lipoprotein cholesterol level quantitative trait locus 2" RELATED [OMIM:143890]
xref: MEDGEN:152875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200602 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:143890 {source="MONDO:equivalentTo"}
xref: Orphanet:391665 {source="OMIM:143890"}
xref: Orphanet:406 {source="OMIM:143890"}
xref: SCTID:398036000 {source="MONDO:equivalentTo"}
xref: UMLS:C0745103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152875"}
is_a: MONDO:0005439 {source="DC-OMIM:143890", source="https://orcid.org/0000-0002-6601-2165"} ! familial hypercholesterolemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0007751
name: hypercholesterolemia, autosomal dominant, type B
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8588", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "apolipoprotein B-100, familial defective" RELATED [OMIM:144010]
synonym: "apolipoprotein B-100, familial ligand-defective" RELATED [OMIM:144010]
synonym: "hypercholesterolemia, autosomal dominant, type B" EXACT CLINGEN_LABEL [OMIM:144010]
synonym: "hypercholesterolemia, familial, 2" EXACT [OMIM:144010, OMIM:genemap2]
synonym: "hypercholesterolemia, familial, due to ligand-defective apolipoprotein B" RELATED [OMIM:144010]
xref: GARD:8588 {source="MONDO:GARD"}
xref: MEDGEN:309962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:144010 {source="MONDO:equivalentTo"}
xref: Orphanet:406 {source="OMIM:144010"}
xref: SCTID:238081000 {source="MONDO:equivalentTo"}
xref: UMLS:C1704417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309962"}
is_a: MONDO:0005439 {source="DC-OMIM:144010"} ! familial hypercholesterolemia
intersection_of: MONDO:0005439 ! familial hypercholesterolemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 ! APOB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 {source="MONDO:mim2gene_medgen"} ! APOB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007752
name: hyperheparinemia
synonym: "hyperheparinemia" EXACT [OMIM:144050]
xref: ICD9:286.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:469019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562723 {source="MONDO:equivalentTo"}
xref: OMIM:144050 {source="MONDO:equivalentTo"}
xref: SCTID:79674009 {source="MONDO:equivalentTo"}
xref: UMLS:C3203346 {source="MONDO:equivalentTo", source="MEDGEN:469019", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007753
name: Frey syndrome
def: "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" [MESH:D013547]
subset: ordo_disorder {source="Orphanet:662240"}
subset: orphanet_rare {source="Orphanet:662240"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "auriculotemporal nerve syndrome" RELATED [OMIM:144100]
synonym: "Baillarger syndrome" EXACT [DOID:11599]
synonym: "Frey syndrome" EXACT [OMIM:144100]
synonym: "Frey's syndrome" RELATED [GARD:0006467]
synonym: "gustatory hyperhidrosis" EXACT [DOID:11599]
synonym: "gustatory sweating" EXACT [DOID:11599, OMIM:144100]
synonym: "hyperhidrosis gustatory" RELATED [GARD:0006467]
synonym: "hyperhidrosis, gustatory" RELATED [MONDO:Lexical, OMIM:144100]
synonym: "HYPRG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144100]
xref: DOID:11599 {source="MONDO:equivalentTo", source="EFO:1000940"}
xref: EFO:1000940 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:21041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013547 {source="DOID:11599", source="MONDO:equivalentTo", source="EFO:1000940"}
xref: OMIM:144100 {source="DOID:11599", source="MONDO:equivalentTo"}
xref: Orphanet:662240 {source="MONDO:equivalentTo"}
xref: SCTID:238758008 {source="DOID:11599", source="MONDO:equivalentTo"}
xref: SCTID:56046002 {source="DOID:11599"}
xref: UMLS:C0038994 {source="MEDGEN:21041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001292 {source="DOID:11599", source="MESH:D013547"} ! autonomic nervous system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007754
name: hyperhidrosis palmaris ET plantaris
synonym: "hyperhidrosis palmaris ET plantaris" EXACT [MONDO:Lexical, OMIM:144110]
synonym: "hyperhidrosis, primary palmar" RELATED [OMIM:144110]
synonym: "HYPRPP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:144110]
xref: MEDGEN:224808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563185 {source="MONDO:equivalentTo"}
xref: OMIM:144110 {source="MONDO:equivalentTo"}
xref: UMLS:C1274743 {source="MEDGEN:224808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007755
name: hyperimmunoglobulin G1(A1) syndrome
synonym: "hyperimmunoglobulin G1 syndrome" EXACT [OMIM:144120, OMIM:genemap2]
synonym: "hyperimmunoglobulin G1(A1) syndrome" EXACT [OMIM:144120]
synonym: "Immunoglobulin heavy chain regulator" RELATED [OMIM:144120]
xref: MEDGEN:374465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564173 {source="MONDO:equivalentTo"}
xref: OMIM:144120 {source="MONDO:equivalentTo"}
xref: UMLS:C1840429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374465"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007756
name: hyperkeratosis lenticularis perstans
subset: gard_rare {source="GARD:2824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:409"}
subset: orphanet_rare {source="Orphanet:409"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Flegel disease" EXACT [OMIM:144150, Orphanet:409]
synonym: "Flegel's disease" RELATED [GARD:0002824]
synonym: "HLP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144150]
synonym: "hyperkeratosis lenticularis perstans" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:144150]
synonym: "hyperkeratosis lenticularis perstans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hyperkeratosis lenticularis perstans of Flegel" RELATED [GARD:0002824]
xref: GARD:2824 {source="MONDO:GARD"}
xref: HP:0007570 {source="MONDO:otherHierarchy"}
xref: MedDRA:10071311 {source="Orphanet:409", source="Orphanet:409/e"}
xref: MEDGEN:120477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538377 {source="MONDO:equivalentTo", source="Orphanet:409", source="Orphanet:409/e"}
xref: OMIM:144150 {source="MONDO:equivalentTo", source="Orphanet:409", source="Orphanet:409/e"}
xref: Orphanet:409 {source="OMIM:144150", source="MONDO:equivalentTo"}
xref: SCTID:28488007 {source="MONDO:equivalentTo"}
xref: UMLS:C0263420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120477"}
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
property_value: IAO:0000589 "hyperkeratosis lenticularis perstans (disease)" xsd:string

[Term]
id: MONDO:0007757
name: hyperkeratosis-hyperpigmentation syndrome
def: "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." [Orphanet:1336]
subset: gard_rare {source="GARD:16563", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1336"}
subset: orphanet_rare {source="Orphanet:1336"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperkeratosis-hyperpigmentation syndrome" EXACT [OMIM:144190]
xref: GARD:16563 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1336", source="Orphanet:1336/attributed", source="Orphanet:1336/ntbt"}
xref: MEDGEN:326735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564172 {source="MONDO:equivalentTo"}
xref: OMIM:144190 {source="MONDO:equivalentTo", source="Orphanet:1336", source="Orphanet:1336/e"}
xref: Orphanet:1336 {source="MONDO:equivalentTo", source="OMIM:144190"}
xref: UMLS:C1840428 {source="MEDGEN:326735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019289 {source="Orphanet:1336"} ! hyperpigmentation of the skin
relationship: has_characteristic HP:0000006 {source="Orphanet:1336"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0007758
name: epidermolytic palmoplantar keratoderma, 1
def: "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." [NCIT:C84693]
subset: gard_rare {source="GARD:2826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2199"}
subset: orphanet_rare {source="Orphanet:2199"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" EXACT [Orphanet:2199]
synonym: "diffuse erythrodermic palmoplantar keratoderma, Voerner type" EXACT [Orphanet:2199]
synonym: "diffuse erythrodermic palmoplantar keratoderma, Vörner type" RELATED [GARD:0002826]
synonym: "epidermolytic palmoplantar keratoderma of VC6rner" EXACT [Orphanet:2199]
synonym: "epidermolytic palmoplantar keratoderma of Voerner" EXACT [GARD:0002826, Orphanet:2199]
synonym: "epidermolytic palmoplantar keratoderma of Vörner" RELATED [GARD:0002826]
synonym: "EPPK" EXACT ABBREVIATION [GARD:0002826, MONDO:Lexical, OMIM:144200, Orphanet:2199]
synonym: "hyperkeratosis palmoplantar localised epidermolytic" RELATED OMO:0003005 []
synonym: "hyperkeratosis palmoplantar localized epidermolytic" RELATED [GARD:0002826]
synonym: "hyperkeratosis, localised epidermolytic" RELATED OMO:0003005 []
synonym: "hyperkeratosis, localized epidermolytic" RELATED [OMIM:144200]
synonym: "keratoderma, epidermolytic palmoplantar" RELATED [OMIM:144200]
synonym: "keratosis of Greither" RELATED [OMIM:144200]
synonym: "keratosis palmaris Et plantaris Familiaris" RELATED [OMIM:144200]
synonym: "palmoplantar keratoderma, epidermolytic" RELATED [MONDO:Lexical, OMIM:144200]
synonym: "palmoplantar keratoderma, epidermolytic, with knuckle pads" RELATED [OMIM:144200]
synonym: "palmoplantar keratoderma, Vorner type" RELATED [OMIM:144200]
synonym: "Ppke" RELATED [OMIM:144200]
synonym: "tylosis" RELATED [OMIM:144200]
xref: DOID:0080223 {source="MONDO:equivalentTo"}
xref: GARD:2826 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2199", source="Orphanet:2199/attributed", source="Orphanet:2199/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NCIT:C84693 {source="MONDO:equivalentTo"}
xref: OMIM:144200 {source="Orphanet:2199", source="MONDO:equivalentTo", source="Orphanet:2199/e", source="DOID:0080223"}
xref: Orphanet:2199 {source="MONDO:equivalentTo", source="OMIM:144200", source="GARD:0002826"}
xref: SCTID:399955009 {source="MONDO:equivalentTo"}
is_a: MONDO:0006590 {source="DOID:0080223", source="NCIT:C84693"} ! palmoplantar keratosis
is_a: MONDO:0017666 {source="https://orcid.org/0000-0002-5002-8648"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0968949 {source="OMIM:144200"} ! palmoplantar keratoderma, epidermolytic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma" xsd:anyURI {source="GARD:0002826"}

[Term]
id: MONDO:0007759
name: hyperlipidemia, familial combined, LPL related
comment: Editor note: the OMIM:144250 entry refers to the LPL-caused form
subset: gard_rare {source="GARD:15077", source="MONDO:GARD"}
subset: rare
synonym: "combined hyperlipidemia, familial" EXACT [OMIM:144250, OMIM:genemap2]
synonym: "familial combined hyperlipidemia" RELATED [OMIM:144250]
synonym: "FCHL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144250]
synonym: "hyperlipidemia, familial combined" RELATED [MONDO:Lexical, OMIM:144250]
xref: GARD:15077 {source="MONDO:GARD"}
xref: MEDGEN:6965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:144250 {source="MONDO:equivalentTo"}
xref: UMLS:C0020474 {source="MEDGEN:6965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001336 {source="DC-OMIM:144250"} ! familial hyperlipidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6677 {source="MONDO:mim2gene_medgen"} ! LPL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007760
name: hyperlipoproteinemia, type II, and deafness
synonym: "hyperlipoproteinemia, type II, and deafness" EXACT [OMIM:144300]
xref: MEDGEN:326732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564170 {source="MONDO:equivalentTo"}
xref: OMIM:144300 {source="MONDO:equivalentTo"}
xref: UMLS:C1840425 {source="MEDGEN:326732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007761
name: obsolete hyperlipoproteinemia type IV
def: "OBSOLETE. A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." [NCIT:P378]
synonym: "carbohydrate inducible hyperlipemia" RELATED [GARD:0006418]
synonym: "carbohydrate-inducible hyperlipemia" RELATED [OMIM:144600]
synonym: "endogenous hyperlipidaemia" EXACT [DOID:1172]
synonym: "familial hypertriglyceridemia" BROAD [DOID:1172, Orphanet:413]
synonym: "familial type IV hyperlipoproteinemia" RELATED [GARD:0006418]
synonym: "Fredrickson type IV hyperlipoproteinemia" RELATED [DOID:1172]
synonym: "Fredrickson type IV lipidaemia" RELATED [DOID:1172]
synonym: "Fredrickson type IV Lipidemia" RELATED [DOID:1172, NCIT:C34711]
synonym: "hyperlipoproteinemia type 4" RELATED [GARD:0006418]
synonym: "hyperlipoproteinemia, type 4" RELATED [OMIM:144600]
synonym: "hyperlipoproteinemia, type IV" RELATED [OMIM:144600]
synonym: "VLDL hyperlipoproteinemia" EXACT [DOID:1172]
xref: DOID:1172 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E78.1 {source="DOID:1172"}
xref: ICD9:272.1 {source="DOID:1172"}
xref: MESH:D006953 {source="MONDO:obsoleteEquivalent", source="DOID:1172"}
xref: NCIT:C34711 {source="MONDO:otherHierarchy", source="DOID:1172"}
xref: OMIM:144600 {source="MONDO:obsoleteEquivalent", source="DOID:1172"}
xref: Orphanet:413 {source="OMIM:144600", source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:129589009 {source="DOID:1172"}
xref: SCTID:154741004 {source="DOID:1172"}
xref: SCTID:190779007 {source="DOID:1172"}
xref: SCTID:238085009 {source="MONDO:obsoleteEquivalent", source="DOID:1172"}
xref: SCTID:267433009 {source="DOID:1172"}
xref: SCTID:34528009 {source="MONDO:relatedTo", source="DOID:1172"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeBiomarker"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6017" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6418/hyperlipoproteinemia-type-4" xsd:anyURI {source="GARD:0006418"}
is_obsolete: true

[Term]
id: MONDO:0007762
name: hyperlipoproteinemia type V
def: "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I." [MESH:D006954]
subset: gard_rare {source="GARD:6704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:530849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial APOA5 deficiency" EXACT [Orphanet:530849]
synonym: "familial apolipoprotein A-V deficiency" EXACT [Orphanet:530849]
synonym: "familial apolipoprotein a5 deficiency" EXACT [Orphanet:530849]
synonym: "familial hyperlipoproteinemia type V" EXACT [DOID:1171]
synonym: "familial type 5 hyperlipoproteinemia" EXACT [DOID:1171]
synonym: "Fredrickson type V lipaemia" EXACT [DOID:1171]
synonym: "HLP type 5" EXACT [Orphanet:70470]
synonym: "hyperchylomicronemia late onset" RELATED [GARD:0006704]
synonym: "hyperchylomicronemia with Hyperprebetalipoproteinemia, familial" RELATED [OMIM:144650]
synonym: "hyperchylomicronemia, late-onset" RELATED [OMIM:144650]
synonym: "hyperlipemia combined fat and carbohydrate-induced" RELATED [GARD:0006704]
synonym: "hyperlipemia mixed" RELATED [GARD:0006704]
synonym: "hyperlipemia, combined fat and carbohydrate-induced" RELATED [OMIM:144650]
synonym: "hyperlipemia, mixed" RELATED [OMIM:144650]
synonym: "hyperlipidemia type V" RELATED [GARD:0006704]
synonym: "hyperlipidemia, type 5" RELATED [OMIM:144650]
synonym: "hyperlipoproteinemia type 5" RELATED [GARD:0006704]
synonym: "hyperlipoproteinemia, type 5" RELATED [OMIM:144650]
synonym: "hyperlipoproteinemia, type V" RELATED [OMIM:144650]
synonym: "major hyperlipidemia" EXACT [Orphanet:70470]
synonym: "mixed hyperlipemia" RELATED [GARD:0006704]
synonym: "type V hyperlipoproteinemia" RELATED [GARD:0006704]
xref: DOID:0111421 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:1171 {source="MONDO:equivalentTo"}
xref: GARD:6704 {source="MONDO:GARD"}
xref: ICD10CM:E78.3 {source="Orphanet:70470", source="Orphanet:70470/ntbt", source="MONDO:mondoSubClassOfSource", source="Orphanet:530849", source="Orphanet:70470/inclusion"}
xref: MedDRA:10060755 {source="Orphanet:70470", source="Orphanet:70470/e"}
xref: MEDGEN:5693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006954 {source="Orphanet:70470", source="MONDO:equivalentTo", source="Orphanet:70470/e", source="DOID:1171"}
xref: NCIT:C35645 {source="MONDO:otherHierarchy", source="DOID:1171"}
xref: OMIM:144650 {source="Orphanet:70470", source="MONDO:equivalentTo", source="Orphanet:70470/e", source="DOID:1171", source="Orphanet:530849"}
xref: Orphanet:530849 {source="MONDO:equivalentTo"}
xref: Orphanet:70470 {source="MONDO:equivalentObsolete", source="OMIM:144650"}
xref: SCTID:190781009 {source="DOID:1171"}
xref: SCTID:34349009 {source="MONDO:equivalentTo", source="DOID:1171"}
xref: UMLS:C0020481 {source="MEDGEN:5693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001336 {source="DC-OMIM:144650", source="DOID:1171", source="MESH:D006954/inferred"} ! familial hyperlipidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17288 {source="MONDO:mim2gene_medgen"} ! APOA5
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5" xsd:anyURI {source="GARD:0006704"}

[Term]
id: MONDO:0007763
name: nonpapillary renal cell carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of kidney" RELATED [OMIM:144700]
synonym: "CCRCC" NARROW ABBREVIATION [Orphanet:319276]
synonym: "clear cell renal cell adenocarcinoma" NARROW [Orphanet:319276]
synonym: "clear cell renal cell carcinoma" NARROW [Orphanet:319276]
synonym: "hypernephroma" RELATED [OMIM:144700]
synonym: "nonpapillary renal carcinoma 1 locus" RELATED [OMIM:144700]
synonym: "RCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144700]
synonym: "renal carcinoma, chromophobe, somatic" EXACT [OMIM:144700, OMIM:genemap2]
synonym: "renal cell carcinoma" BROAD [OMIM:144700, OMIM:genemap2]
synonym: "renal cell carcinoma, clear cell" EXACT [OMIM:144700, OMIM:genemap2]
synonym: "renal cell carcinoma, clear cell, somatic" EXACT [OMIM:144700, OMIM:genemap2]
synonym: "renal cell carcinoma, nonpapillary" RELATED [MONDO:Lexical, OMIM:144700]
synonym: "renal cell carcinoma, somatic" EXACT [OMIM:144700, OMIM:genemap2]
xref: DOID:0050387 {source="MONDO:equivalentTo"}
xref: ICD10CM:C64 {source="Orphanet:319276", source="Orphanet:319276/ntbt"}
xref: OMIM:144700 {source="DOID:0050387", source="MONDO:equivalentTo"}
xref: Orphanet:319276
xref: Orphanet:422526 {source="OMIM:144700"}
is_a: MONDO:0005086 {source="DOID:0050387/inferred", source="Orphanet:319276"} ! renal cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2262" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007764
name: autosomal dominant osteosclerosis, Worth type
def: "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." [https://orcid.org/0000-0001-5208-3432, Orphanet:2790]
subset: gard_rare {source="GARD:390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2790"}
subset: ordo_malformation_syndrome {source="Orphanet:2790"}
subset: orphanet_rare {source="Orphanet:2790"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant endosteal hyperostosis" EXACT [DOID:0080037]
synonym: "autosomal dominant osteosclerosis" EXACT [DOID:0080037]
synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT [DOID:0080037]
synonym: "endosteal hyperostosis, autosomal dominant" RELATED [OMIM:144750]
synonym: "endosteal hyperostosis, Worth type" EXACT [Orphanet:2790]
synonym: "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus" RELATED [GARD:0000390]
synonym: "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus" RELATED [OMIM:144750]
synonym: "hyperostosis, endosteal" EXACT [OMIM:144750, OMIM:genemap2]
synonym: "osteosclerosis of the skull and enlarged mandible" RELATED [GARD:0009488]
synonym: "osteosclerosis, autosomal dominant" RELATED [OMIM:144750]
synonym: "osteosclerosis, autosomal dominant, Worth type" RELATED [GARD:0000390]
synonym: "Ostéosclérose autosomique dominante type Worth" EXACT [Orphanet:2790]
synonym: "Van Buchem disease type 2" RELATED [GARD:0009488]
synonym: "Van Buchem disease, type 2" RELATED [OMIM:607636]
synonym: "VBCH2" RELATED ABBREVIATION [OMIM:607636]
synonym: "Worth syndrome" EXACT [DOID:0080037, Orphanet:2790]
synonym: "Worth's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:0080037 {source="MONDO:equivalentTo"}
xref: GARD:390 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:2790/attributed", source="Orphanet:2790/ntbt", source="Orphanet:2790"}
xref: MEDGEN:140932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:144750 {source="Orphanet:2790/e", source="MONDO:equivalentTo", source="Orphanet:2790"}
xref: OMIM:607636 {source="MONDO:equivalentObsolete", source="DOID:0080037"}
xref: Orphanet:2790 {source="MONDO:equivalentTo", source="OMIM:144750"}
xref: Orphanet:3416 {source="OMIM:607636"}
xref: SCTID:254131007 {source="MONDO:equivalentTo"}
xref: UMLS:C0432273 {source="MEDGEN:140932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002185 ! hyperostosis
is_a: MONDO:0005381 {source="Orphanet:2790", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:2790"} ! Increased bone mineral density
relationship: disease_has_feature HP:0100774 ! Hyperostosis
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2790", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4533" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007765
name: hyperostosis cranialis interna
subset: gard_rare {source="GARD:17753", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443098"}
subset: orphanet_rare {source="Orphanet:443098"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HCIN" RELATED ABBREVIATION [OMIM:144755]
synonym: "hyperostosis cranalis interna" EXACT [OMIM:144755, OMIM:genemap2]
synonym: "hyperostosis cranialis interna" EXACT [MONDO:ambiguous, OMIM:144755]
synonym: "hyperostosis cranialis interna (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:17753 {source="MONDO:GARD"}
xref: HP:0005890 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M85.2 {source="Orphanet:443098/attributed", source="Orphanet:443098/ntbt", source="Orphanet:443098"}
xref: MEDGEN:327093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564168 {source="MONDO:equivalentTo"}
xref: OMIM:144755 {source="Orphanet:443098/e", source="MONDO:equivalentTo", source="Orphanet:443098"}
xref: Orphanet:443098 {source="MONDO:equivalentTo"}
xref: UMLS:C1840404 {source="MEDGEN:327093", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:144755"} ! hereditary disease
relationship: disease_has_feature HP:0011001 {source="Orphanet:443098"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:443098", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20858 {source="OMIM:144755"} ! SLC39A14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "hyperostosis cranialis interna (disease)" xsd:string

[Term]
id: MONDO:0007766
name: Morgagni-Stewart-Morel syndrome
def: "Morgagni-Stewart-Morel syndrome is characterized by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant." [Orphanet:77296]
subset: gard_rare {source="GARD:8593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1268"}
subset: ordo_disorder {source="Orphanet:77296"}
subset: ordo_malformation_syndrome {source="Orphanet:77296"}
subset: orphanet_rare {source="Orphanet:77296"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hyperostosis Frontalis Interna" EXACT [NORD:1268]
synonym: "hyperostosis frontalis interna" EXACT [OMIM:144800, Orphanet:77296]
synonym: "hyperostosis frontalis interna, obesity, shortness and cognitive impairment" RELATED [GARD:0008593]
synonym: "Morgagni-Stewart-Morel syndrome" EXACT [OMIM:144800]
synonym: "MSM syndrome" RELATED [GARD:0008593]
xref: GARD:8593 {source="MONDO:GARD"}
xref: ICD10CM:M85.2 {source="Orphanet:77296", source="Orphanet:77296/ntbt", source="Orphanet:77296/index"}
xref: MEDGEN:9367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006957 {source="MONDO:equivalentTo"}
xref: NCIT:C84772 {source="MONDO:equivalentTo"}
xref: NORD:1268 {source="MONDO:NORD"}
xref: OMIM:144800 {source="Orphanet:77296/e", source="MONDO:equivalentTo", source="Orphanet:77296"}
xref: Orphanet:77296 {source="MONDO:equivalentTo", source="OMIM:144800"}
xref: SCTID:82054006 {source="MONDO:equivalentTo"}
xref: UMLS:C0020494 {source="MEDGEN:9367", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:77296", source="Orphanet:77296/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome" xsd:anyURI {source="GARD:0008593"}

[Term]
id: MONDO:0007767
name: hyperparathyroidism 1
subset: gard_rare {source="GARD:18253", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HRPT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145000]
synonym: "hyperparathyroidism 1" EXACT [MONDO:Lexical, OMIM:145000]
synonym: "hyperparathyroidism type 1" EXACT [MONDORULE:1, OMIM:145000]
synonym: "hyperparathyroidism, familial isolated primary" RELATED [OMIM:145000]
synonym: "hyperparathyroidism, familial primary" EXACT [OMIM:145000, OMIM:genemap2]
synonym: "parathyroid adenoma, familial" RELATED [OMIM:145000]
xref: GARD:18253 {source="MONDO:GARD"}
xref: MEDGEN:333554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:145000 {source="MONDO:equivalentTo"}
xref: Orphanet:99877 {source="MONDO:relatedTo", source="OMIM:145000"}
xref: Orphanet:99879 {source="OMIM:145000"}
xref: UMLS:C1840402 {source="MONDO:equivalentTo", source="MEDGEN:333554", source="MONDO:MEDGEN"}
is_a: MONDO:0001741 {source="MONDO:Redundant", source="OMIM:145000"} ! hyperparathyroidism
is_a: MONDO:0015027 {source="Orphanet:99879/btnt"} ! familial isolated hyperparathyroidism
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007768
name: hyperparathyroidism 2 with jaw tumors
def: "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." [NCIT:C48287]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99880"}
subset: orphanet_rare {source="Orphanet:99880"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial primary hyperparathyroidism with multiple ossifying jaw fibromas" RELATED [GARD:0010829]
synonym: "hereditary hyperparathyroidism-jaw tumor syndrome" RELATED [GARD:0010829]
synonym: "hereditary hyperparathyroidism-jaw tumour syndrome" RELATED OMO:0003005 []
synonym: "HPT-JT" EXACT [NCIT:C48287, Orphanet:99880]
synonym: "HRPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145001]
synonym: "hyperparathyroidism 2" RELATED [GARD:0010829, MONDO:Lexical, OMIM:145001]
synonym: "hyperparathyroidism 2 with jaw tumors" EXACT CLINGEN_LABEL [OMIM:145001]
synonym: "hyperparathyroidism type 2" EXACT [MONDORULE:1, OMIM:145001]
synonym: "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas" RELATED [OMIM:145001]
synonym: "hyperparathyroidism-2" EXACT [NCIT:C48287]
synonym: "hyperparathyroidism-jaw tumor syndrome" EXACT [NCIT:C48287]
synonym: "hyperparathyroidism-jaw tumor syndrome, hereditary" RELATED [OMIM:145001]
synonym: "hyperparathyroidism-jaw tumour syndrome" EXACT OMO:0003005 []
synonym: "hyperparathyroidism-jaw tumour syndrome, hereditary" RELATED OMO:0003005 []
synonym: "parathyroid adenoma with cystic changes" EXACT [OMIM:145001, OMIM:genemap2]
synonym: "parathyroid adenomatosis, familial cystic" RELATED [OMIM:145001]
xref: GARD:10829 {source="MONDO:GARD"}
xref: ICD10CM:E21.0 {source="Orphanet:99880/attributed", source="Orphanet:99880/ntbt", source="Orphanet:99880"}
xref: MEDGEN:310065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C48287 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: OMIM:145001 {source="Orphanet:99880/e", source="MONDO:equivalentTo", source="Orphanet:99880"}
xref: Orphanet:99880 {source="MONDO:equivalentTo", source="OMIM:145001"}
xref: SCTID:702378002 {source="MONDO:equivalentTo"}
xref: UMLS:C1704981 {source="MEDGEN:310065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001741 {source="MONDO:Redundant", source="OMIM:145001"} ! hyperparathyroidism
is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C48287", source="Orphanet:99880/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0016365 {source="Orphanet:99880"} ! familial primary hyperparathyroidism
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome" xsd:anyURI {source="GARD:0010829"}

[Term]
id: MONDO:0007769
name: hyperpigmentation of eyelid
def: "Over-production of pigment in the eyelid." [EFO:1000711]
synonym: "dyspigmentation of eyelid" EXACT [DOID:10122]
synonym: "hyperpigmentation of eyelids" RELATED [OMIM:145100]
xref: DOID:10122 {source="MONDO:equivalentTo", source="EFO:1000711"}
xref: ICD10CM:H02.71 {source="DOID:10122"}
xref: ICD9:374.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10122"}
xref: MEDGEN:56358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562400 {source="MONDO:equivalentTo", source="DOID:10122"}
xref: OMIM:145100 {source="MONDO:equivalentTo", source="DOID:10122"}
xref: SCTID:41115008 {source="MONDO:equivalentTo", source="DOID:10122"}
xref: UMLS:C0155211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56358"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007770
name: hyperpigmentation of Fuldauer and Kuijpers
synonym: "hyperpigmentation of Fuldauer and Kuijpers" EXACT [OMIM:145200]
xref: MEDGEN:327090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564164 {source="MONDO:equivalentTo"}
xref: OMIM:145200 {source="MONDO:equivalentTo"}
xref: UMLS:C1840393 {source="MEDGEN:327090", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007771
name: hyperpigmentation with or without hypopigmentation, familial progressive
subset: gard_rare {source="GARD:18073", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FPHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145250]
synonym: "hyperpigmentation with or without hypopigmentation" EXACT [OMIM:145250, OMIM:genemap2]
synonym: "hyperpigmentation with or without hypopigmentation, familial progressive" EXACT [MONDO:Lexical, OMIM:145250]
synonym: "hyperpigmentation, familial progressive, 2" RELATED [OMIM:145250]
synonym: "hyperpigmentation, familial progressive, 2, formerly" RELATED [OMIM:145250]
synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" EXACT [OMIM:145250]
synonym: "melanosis universalis hereditaria" RELATED [OMIM:145250]
synonym: "melanosis, universal" EXACT [OMIM:145250]
xref: DOID:0111373 {source="MONDO:equivalentTo"}
xref: GARD:18073 {source="MONDO:GARD"}
xref: MEDGEN:333550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:145250 {source="MONDO:equivalentTo"}
xref: Orphanet:280628 {source="OMIM:145250"}
xref: Orphanet:79146 {source="OMIM:145250"}
xref: UMLS:C1840392 {source="MEDGEN:333550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013648 {source="Orphanet:79146/btnt"} ! familial progressive hyperpigmentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6343 {source="MONDO:mim2gene_medgen"} ! KITLG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007772
name: pseudohypoaldosteronism type 2A
subset: gard_rare {source="GARD:16775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:88938"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88938"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gordon hyperkalemia-hypertension syndrome" RELATED [OMIM:145260]
synonym: "hyperpotassemia and hypertension, familial" RELATED [OMIM:145260]
synonym: "hypertensive hyperkalemia, familial" RELATED [OMIM:145260]
synonym: "PHA2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145260, Orphanet:88938]
synonym: "pseudohypoaldosteronism, type IIA" RELATED [MONDO:Lexical, OMIM:145260]
xref: GARD:16775 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:88938/attributed", source="Orphanet:88938/ntbt", source="Orphanet:88938"}
xref: MEDGEN:327088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:145260 {source="Orphanet:88938/e", source="MONDO:equivalentTo", source="Orphanet:88938"}
xref: Orphanet:757 {source="OMIM:145260"}
xref: Orphanet:88938 {source="OMIM:145260", source="MONDO:equivalentTo"}
xref: SCTID:703254001 {source="MONDO:equivalentTo"}
xref: UMLS:C1840389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327088"}
is_a: MONDO:0019162 {source="OMIM:145260", source="Orphanet:88938"} ! pseudohypoaldosteronism type 2

[Term]
id: MONDO:0007773
name: hyperproglucagonemia
synonym: "glucagon, large molecular weight species of" RELATED [OMIM:145270]
synonym: "hyperproglucagonemia" EXACT [OMIM:145270]
xref: MEDGEN:326726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564159 {source="MONDO:equivalentTo"}
xref: OMIM:145270 {source="MONDO:equivalentTo"}
xref: UMLS:C1840388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326726"}
is_a: MONDO:0003847 {source="MESH:C564159/inferred"} ! hereditary disease

[Term]
id: MONDO:0007774
name: hyperreflexia
def: "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes." [MESH:D012021]
synonym: "HRX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145290]
synonym: "hyperreflexia" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:145290]
synonym: "hyperreflexia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0001347 {source="MONDO:otherHierarchy"}
xref: MEDGEN:57738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012021 {source="MONDO:equivalentTo"}
xref: OMIM:145290 {source="MONDO:equivalentTo"}
xref: UMLS:C0151889 {source="MEDGEN:57738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "hyperreflexia (disease)" xsd:string

[Term]
id: MONDO:0007775
name: hypersecretion of adrenal androgens, familial
synonym: "familial hypersecretion of adrenal androgens" RELATED [GARD:0009593]
synonym: "hypersecretion of adrenal androgens, familial" EXACT [OMIM:145295]
xref: MEDGEN:326725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536845 {source="MONDO:equivalentTo"}
xref: OMIM:145295 {source="MONDO:equivalentTo"}
xref: UMLS:C1840387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326725"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9593/familial-hypersecretion-of-adrenal-androgens" xsd:anyURI {source="GARD:0009593"}

[Term]
id: MONDO:0007776
name: hypersensitivity pneumonitis, familial
def: "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:8240", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary hypersensitivity pneumonitis" EXACT [MONDO:patterns/hereditary]
synonym: "hypersensitivity pneumonitis, familial" EXACT [OMIM:145300]
xref: GARD:8240 {source="MONDO:GARD"}
xref: MEDGEN:326724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536846 {source="MONDO:equivalentTo"}
xref: OMIM:145300 {source="MONDO:equivalentTo"}
xref: UMLS:C1840386 {source="MEDGEN:326724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017853 {source="MESH:C536846"} ! hypersensitivity pneumonitis
intersection_of: MONDO:0017853 ! hypersensitivity pneumonitis
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0007777
name: hypotaurinemic retinal degeneration and cardiomyopathy
subset: clingen {source="MONDO:CLINGEN"}
synonym: "hypotaurinemic retinal degeneration and cardiomyopathy" EXACT [OMIM:145350, OMIM:genemap2]
xref: MEDGEN:1779589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564157 {source="MONDO:equivalentTo"}
xref: OMIM:145350 {source="MONDO:equivalentTo"}
xref: UMLS:C5542181 {source="MEDGEN:1779589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564157/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6142" xsd:anyURI

[Term]
id: MONDO:0007778
name: obsolete hypertelorism
def: "OBSOLETE. A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism)." [NCIT:C34715]
comment: Hypertelorism is a phenotypic feature.
synonym: "hypertelorism" EXACT [MONDO:ambiguous, OMIM:145400]
synonym: "hypertelorism of orbit" EXACT [NCIT:C34715]
synonym: "obsolete hypertelorism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0000316 {source="MONDO:otherHierarchy"}
xref: ICD9:376.41 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: MESH:D006972 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C34715 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:145400 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:22006008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1574" xsd:anyURI
property_value: IAO:0000589 "obsolete hypertelorism (disease)" xsd:string
is_obsolete: true
consider: HP:0000316

[Term]
id: MONDO:0007779
name: obsolete autosomal dominant Opitz G/BBB syndrome
def: "OBSOLETE. Autosomal dominant form of Opitz G/BBB syndrome." [MONDO:patterns/autosomal_dominant]
subset: ordo_etiological_subtype {source="Orphanet:306588"}
synonym: "ADOS" EXACT ABBREVIATION [Orphanet:306588]
synonym: "autosomal dominant Opitz BBB/G syndrome" EXACT [Orphanet:306588]
synonym: "autosomal dominant Opitz syndrome" EXACT [Orphanet:306588]
synonym: "BBB syndrome" RELATED [OMIM:145410]
synonym: "chromosome 22Q11.2 deletion syndrome, Opitz phenotype" RELATED [OMIM:145410]
synonym: "G syndrome" RELATED [OMIM:145410]
synonym: "GBBB syndrome" RELATED [OMIM:145410]
synonym: "GBBB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145410]
synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [OMIM:145410]
synonym: "hypertelorism-hypospadias syndrome" RELATED [OMIM:145410]
synonym: "hypospadias-dysphagia syndrome" RELATED [OMIM:145410]
synonym: "Opitz Bbbg syndrome" RELATED [OMIM:145410]
synonym: "Opitz G/BBB syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "Opitz GBBB syndrome, autosomal dominant" RELATED [OMIM:145410]
synonym: "Opitz GBBB syndrome, type 2" RELATED [OMIM:145410]
synonym: "Opitz GBBB syndrome, type II" RELATED [MONDO:Lexical, OMIM:145410]
synonym: "Opitz oculogenitolaryngeal syndrome, type 2" RELATED [OMIM:145410]
synonym: "Opitz-Frias syndrome" RELATED [OMIM:145410]
synonym: "Opitz-G syndrome, type 2" RELATED [OMIM:145410]
synonym: "telecanthus with associated abnormalities" RELATED [OMIM:145410]
synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:145410]
xref: ICD10CM:Q87.8 {source="Orphanet:306588/attributed", source="Orphanet:306588/ntbt", source="Orphanet:306588"}
xref: OMIM:145410 {source="Orphanet:306588/e", source="MONDO:obsoleteEquivalentObsolete", source="Orphanet:306588"}
xref: Orphanet:2745 {source="OMIM:145410"}
xref: Orphanet:306588 {source="OMIM:145410", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6312" xsd:anyURI
is_obsolete: true
consider: MONDO:0017138
consider: MONDO:0800025

[Term]
id: MONDO:0007780
name: obsolete hypertelorism, Teebi type
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4500" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800025

[Term]
id: MONDO:0007781
name: essential hypertension, genetic
def: "An instance of essential hypertension that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: otar {source="MONDO:OTAR"}
synonym: "blood pressure regulation QTL" EXACT [OMIM:145500, OMIM:genemap2]
synonym: "EHT" RELATED ABBREVIATION [OMIM:145500]
synonym: "genetic essential hypertension" EXACT [MONDO:patterns/genetic]
synonym: "hypertension, essential" RELATED [OMIM:145500]
synonym: "hypertension, essential, salt-sensitive" EXACT [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, essential, susceptibility to" RELATED [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, essential, susceptibility to, 1" RELATED [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, essential, susceptibility to, 2" NARROW [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, essential, susceptibility to, 3" NARROW [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, essential, susceptibility to, 4" NARROW [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, essential, susceptibility to, 5" NARROW [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, essential, susceptibility to, 6" NARROW [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, salt-sensitive essential, susceptibility to" RELATED [OMIM:145500, OMIM:genemap2]
synonym: "hypertension, susceptibility to" NARROW [OMIM:145500, OMIM:genemap2]
xref: OMIM:145500 {source="MONDO:equivalentTo"}
xref: Orphanet:243761 {source="OMIM:145500"}
is_a: MONDO:0042489 {source="DC-OMIM:145500", source="MONDO:Redundant"} ! disease susceptibility
intersection_of: MONDO:0001134 ! essential hypertension
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0001134 {source="DC-OMIM:145500", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0007782
name: hyperthermia, cutaneous, with headaches and nausea
synonym: "farmer syndrome" RELATED [OMIM:145590]
synonym: "hyperthermia, cutaneous, with headaches and nausea" EXACT [OMIM:145590]
xref: MEDGEN:374453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564156 {source="MONDO:equivalentTo"}
xref: OMIM:145590 {source="MONDO:equivalentTo"}
xref: UMLS:C1840373 {source="MEDGEN:374453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007783
name: malignant hyperthermia, susceptibility to, 1
def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: predisposition
synonym: "hyperpyrexia, malignant" RELATED [GARD:0003363, OMIM:145600]
synonym: "hyperpyrexia, malignant;MH KING syndrome, included" RELATED [MESH:C535694]
synonym: "hyperthermia of anaesthesia" RELATED OMO:0003005 []
synonym: "hyperthermia of anesthesia" RELATED [GARD:0003363, MESH:C535694, OMIM:145600]
synonym: "King syndrome" RELATED [OMIM:145600]
synonym: "King-Denborough syndrome" RELATED [OMIM:145600]
synonym: "King-Denborough syndrome, included" RELATED [MESH:C535694]
synonym: "malignant hyperthermia of anaesthesia caused by mutation in RYR1" EXACT OMO:0003005 []
synonym: "malignant hyperthermia of anesthesia caused by mutation in RYR1" EXACT [MONDO:design_pattern]
synonym: "malignant hyperthermia susceptibility 1" EXACT [OMIM:145600, OMIM:genemap2]
synonym: "malignant hyperthermia susceptibility type 1" RELATED [GARD:0003363]
synonym: "malignant hyperthermia, susceptibility to, 1" EXACT CLINGEN_LABEL [MESH:C535694, MONDO:Lexical, OMIM:145600]
synonym: "malignant hyperthermia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:145600]
synonym: "MHS" RELATED ABBREVIATION [GARD:0003363, MESH:C535694, OMIM:145600]
synonym: "MHS1" RELATED ABBREVIATION [GARD:0003363, MESH:C535694, MONDO:Lexical, OMIM:145600]
synonym: "RYR1 malignant hyperthermia of anaesthesia" EXACT OMO:0003005 []
synonym: "RYR1 malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to malignant hyperthermia 1" RELATED [OMIM:145600]
xref: DOID:0080990 {source="MONDO:equivalentTo"}
xref: MEDGEN:443948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535694 {source="MONDO:equivalentTo"}
xref: OMIM:145600 {source="MONDO:equivalentTo", source="GARD:0003363"}
xref: Orphanet:423 {source="OMIM:145600", source="GARD:0003363"}
xref: Orphanet:99741 {source="MONDO:relatedTo", source="OMIM:145600"}
xref: UMLS:C2930980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443948"}
is_a: MONDO:0800188 {source="OMIM:145600"} ! malignant hyperthermia, susceptibility to
intersection_of: MONDO:0800188 ! malignant hyperthermia, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 ! RYR1
intersection_of: predisposes_towards MONDO:0018493 ! malignant hyperthermia of anesthesia
relationship: excluded_subClassOf MONDO:0018493 {source="DC-OMIM:145600", source="EFO:0009071", source="MESH:C535694", source="MONDO:Redundant", source="OMIM:145600", source="https://orcid.org/0000-0001-5208-3432"} ! malignant hyperthermia of anesthesia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="MONDO:mim2gene_medgen"} ! RYR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1" xsd:anyURI {source="GARD:0003363"}

[Term]
id: MONDO:0007784
name: selective pituitary resistance to thyroid hormone
def: "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema." [Orphanet:165994]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperthyroidism, familial, due to inappropriate thyrotropin secretion" RELATED [OMIM:145650]
synonym: "pituitary resistance to thyroid hormone" RELATED [Orphanet:165994]
synonym: "PRTH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145650, PMID:8475937]
synonym: "thyroid hormone resistance, selective pituitary" RELATED [MONDO:Lexical, OMIM:145650]
xref: DOID:0111374 {source="MONDO:equivalentTo"}
xref: ICD10CM:E05.8 {source="Orphanet:165994", source="Orphanet:165994/attributed", source="Orphanet:165994/ntbt"}
xref: MEDGEN:333543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564154 {source="MONDO:equivalentTo"}
xref: OMIM:145650 {source="MONDO:equivalentTo", source="Orphanet:165994", source="Orphanet:165994/e"}
xref: Orphanet:165994 {source="MONDO:equivalentObsolete", source="OMIM:145650"}
xref: UMLS:C1840364 {source="MONDO:equivalentTo", source="MEDGEN:333543", source="MONDO:MEDGEN"}
is_a: MONDO:0001328 {source="DC-OMIM:145650", source="PMID:8475937", source="https://orcid.org/0000-0002-6601-2165"} ! thyroid hormone resistance syndrome
is_a: MONDO:0004425 {source="Orphanet:165994"} ! hyperthyroidism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11799 {source="MONDO:mim2gene_medgen"} ! THRB

[Term]
id: MONDO:0007785
name: hyperthyroxinemia, dystransthyretinemic
synonym: "DTTRH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145680]
synonym: "dystransthyretinemic ethyroidal hyperthyroxinemia" RELATED [OMIM:145680]
synonym: "dystransthyretinemic hyperthyroxinemia" EXACT [DOID:0080219, OMIM:145680, OMIM:genemap2]
synonym: "euthryroidal hyperthyroxinemia 2" RELATED [OMIM:145680]
synonym: "hyperthyroxinemia, Dysprealbuminemic" RELATED [OMIM:145680]
synonym: "hyperthyroxinemia, dystransthyretinemic" EXACT [MONDO:Lexical, OMIM:145680]
xref: DOID:0080219 {source="MONDO:equivalentTo"}
xref: MEDGEN:442573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567719 {source="MONDO:equivalentTo"}
xref: OMIM:145680 {source="MONDO:equivalentTo", source="DOID:0080219"}
xref: UMLS:C2750824 {source="MEDGEN:442573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005333 {source="DOID:0080219", source="MESH:C567719"} ! hyperthyroxinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="MONDO:mim2gene_medgen"} ! TTR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007786
name: obsolete hypertrichosis lanuginosa congenita
is_obsolete: true
replaced_by: MONDO:0016381

[Term]
id: MONDO:0007787
name: Ambras type hypertrichosis universalis congenita
def: "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." [Orphanet:1023]
subset: gard_rare {source="GARD:8206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1023"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ambras syndrome" EXACT [DOID:0111060, OMIM:145701, Orphanet:1023]
synonym: "congenital generalised hypertrichosis, Ambras type" RELATED OMO:0003005 []
synonym: "congenital generalized hypertrichosis, Ambras type" RELATED [Orphanet:1023]
synonym: "HTC 1" RELATED [GARD:0008206]
synonym: "HTC1" EXACT ABBREVIATION [DOID:0111060, MONDO:Lexical, OMIM:145701]
synonym: "hypertrichosis universalis congenita Ambras type" RELATED [GARD:0008206]
synonym: "hypertrichosis universalis congenita, Ambras type" RELATED [MONDO:Lexical, OMIM:145701]
synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 []
synonym: "hypertrichosis, congenital generalized" RELATED [OMIM:145701]
xref: DOID:0111060 {source="MONDO:equivalentTo"}
xref: GARD:8206 {source="MONDO:GARD"}
xref: ICD10CM:Q84.2 {source="Orphanet:1023/attributed", source="Orphanet:1023/ntbt", source="Orphanet:1023", source="DOID:0111060"}
xref: MEDGEN:333542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536605 {source="Orphanet:1023", source="DOID:0111060", source="Orphanet:1023/e"}
xref: OMIM:145701 {source="Orphanet:1023", source="DOID:0111060", source="MONDO:equivalentTo", source="Orphanet:1023/e"}
xref: Orphanet:1023 {source="DOID:0111060", source="MONDO:equivalentTo", source="OMIM:145701"}
xref: Orphanet:2222 {source="OMIM:145701"}
xref: UMLS:C1840362 {source="MEDGEN:333542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016381 {source="Orphanet:1023"} ! hypertrichosis lanuginosa congenita

[Term]
id: MONDO:0007788
name: hypertriglyceridemia 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypertriglyceridemia, familial" EXACT [OMIM:145750]
synonym: "hypertriglyceridemia, susceptibility to" RELATED [OMIM:145750, OMIM:genemap2]
xref: MEDGEN:1787149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:145750 {source="MONDO:equivalentTo"}
xref: Orphanet:413 {source="OMIM:145750"}
xref: SCTID:34528009 {source="MONDO:equivalentTo"}
xref: UMLS:C5444012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787149"}
is_a: MONDO:0005347 {source="MONDO:Redundant"} ! hypertriglyceridemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007789
name: hypertrophia musculorum vera
synonym: "hypertrophia musculorum vera" EXACT [OMIM:145800]
xref: MEDGEN:374451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564152 {source="MONDO:equivalentTo"}
xref: OMIM:145800 {source="MONDO:equivalentTo"}
xref: UMLS:C1840361 {source="MEDGEN:374451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007790
name: Charcot-Marie-Tooth disease type 3
comment: Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit
subset: gard_rare {source="GARD:9204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1037"}
subset: ordo_disorder {source="Orphanet:64748"}
subset: orphanet_rare {source="Orphanet:64748"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease type 3" EXACT [Orphanet:64748]
synonym: "Charcot-Marie-Tooth disease, type 3" EXACT [NCIT:C133087]
synonym: "CMT3" EXACT ABBREVIATION [NCIT:C133087]
synonym: "dejerine-sottas disease" EXACT [OMIM:145900, OMIM:genemap2]
synonym: "Dejerine-Sottas neuropathy" EXACT [DOID:0050540, NCIT:C133087]
synonym: "Dejerine-Sottas Syndrome" EXACT [NORD:1037]
synonym: "Dejerine-Sottas syndrome" EXACT [DOID:0050540]
synonym: "DSN" RELATED ABBREVIATION [GARD:0009204]
synonym: "hereditary motor and sensory neuropathy 3" RELATED [GARD:0009204]
synonym: "hereditary motor and sensory neuropathy type 3" EXACT [OMIM:145900, Orphanet:64748]
synonym: "hereditary motor and sensory neuropathy type III" EXACT [NCIT:C133087, Orphanet:64748]
synonym: "HMSN 3" EXACT [Orphanet:64748]
synonym: "HMSN III" EXACT [Orphanet:64748]
synonym: "HMSN3" EXACT ABBREVIATION [NCIT:C133087]
synonym: "hypertrophic neuropathy of Dejerine-Sottas" EXACT [NCIT:C133087, OMIM:145900]
synonym: "hypertrophic neuropathy of infancy" RELATED [GARD:0009204]
xref: DOID:0050540 {source="MONDO:equivalentTo"}
xref: GARD:9204 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:64748", source="Orphanet:64748/attributed", source="Orphanet:64748/ntbt"}
xref: MEDGEN:3710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538392 {source="Orphanet:64748", source="Orphanet:64748/e"}
xref: NCIT:C133087 {source="MONDO:equivalentTo"}
xref: NORD:1037 {source="MONDO:NORD"}
xref: OMIM:145900 {source="DOID:0050540", source="MONDO:equivalentTo", source="Orphanet:64748", source="Orphanet:64748/e"}
xref: Orphanet:64748 {source="MONDO:equivalentTo", source="OMIM:145900"}
xref: SCTID:111499002 {source="MONDO:equivalentTo"}
xref: UMLS:C0011195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3710"}
is_a: MONDO:0015626 {source="DOID:0050540", source="MONDO:Redundant", source="NCIT:C133087", source="OMIM:145900", source="Orphanet:64748/inferred"} ! Charcot-Marie-Tooth disease
relationship: excluded_subClassOf MONDO:0015359 {source="Orphanet:64748", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy
relationship: excluded_subClassOf MONDO:0015361 {source="Orphanet:64748", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007791
name: familial hypocalciuric hypercalcemia 1
def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2796", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93372"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93372"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CASR familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial benign hypercalcemia 1" EXACT [DOID:0060700, OMIM:145980]
synonym: "familial benign hypercalcemia type 1" RELATED [GARD:0002796]
synonym: "familial hypocalciuric hypercalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern]
synonym: "familial hypocalciuric hypercalcemia type 1" EXACT [DOID:0060700, MONDORULE:1]
synonym: "familial hypocalciuric hypercalcemia type I" EXACT [DOID:0060700]
synonym: "FBH1" RELATED ABBREVIATION [GARD:0002796]
synonym: "FHH type 1" EXACT [DOID:0060700, Orphanet:93372]
synonym: "Fhh1" RELATED [OMIM:145980]
synonym: "HHC1" EXACT ABBREVIATION [DOID:0060700, MONDO:Lexical, OMIM:145980]
synonym: "hpocalciuric hypercalcemia, type I" EXACT [OMIM:145980, OMIM:genemap2]
synonym: "hypercalcemia, familial benign" RELATED [OMIM:145980]
synonym: "hypercalcemia, familial benign type 1" RELATED [GARD:0002796]
synonym: "hypocalciuric hypercalcemia type I" EXACT [DOID:0060700]
synonym: "hypocalciuric hypercalcemia, acquired" RELATED [OMIM:145980]
synonym: "hypocalciuric hypercalcemia, familial, type 1" RELATED [GARD:0002796, OMIM:145980]
synonym: "hypocalciuric hypercalcemia, familial, type I" RELATED [MONDO:Lexical, OMIM:145980]
xref: DOID:0060700 {source="MONDO:equivalentTo"}
xref: GARD:2796 {source="MONDO:GARD"}
xref: ICD10CM:E83.5 {source="Orphanet:93372", source="Orphanet:93372/attributed", source="Orphanet:93372/ntbt", source="DOID:0060700"}
xref: MedDRA:10068704 {source="Orphanet:93372", source="Orphanet:93372/e"}
xref: MEDGEN:137973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537145 {source="Orphanet:93372", source="MONDO:equivalentTo", source="Orphanet:93372/e"}
xref: OMIM:145980 {source="Orphanet:93372", source="MONDO:equivalentTo", source="Orphanet:93372/e", source="DOID:0060700"}
xref: Orphanet:405 {source="OMIM:145980"}
xref: Orphanet:93372 {source="MONDO:equivalentTo", source="OMIM:145980", source="DOID:0060700"}
xref: SCTID:704166007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342637 {source="MEDGEN:137973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018458 {source="DC-OMIM:145980", source="DOID:0060700", source="MONDO:Redundant", source="OMIM:145980", source="Orphanet:93372"} ! familial hypocalciuric hypercalcemia
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0018458 ! familial hypocalciuric hypercalcemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 ! CASR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 {source="MONDO:mim2gene_medgen"} ! CASR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007792
name: familial hypocalciuric hypercalcemia 2
def: "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." [DOID:0060701, PMID:23802516]
subset: gard_rare {source="GARD:9758", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:101049"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101049"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial benign hypercalcemia, type 2" RELATED [OMIM:145981]
synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [DOID:0060701, MONDORULE:1]
synonym: "FBH2" RELATED ABBREVIATION [GARD:0009758]
synonym: "FHH type 2" EXACT [DOID:0060701, Orphanet:101049]
synonym: "HHC2" EXACT ABBREVIATION [DOID:0060701, MONDO:Lexical, OMIM:145981]
synonym: "hpocalciuric hypercalcemia, type II" EXACT [OMIM:145981, OMIM:genemap2]
synonym: "hypercalcemia, familial benign type 2" RELATED [GARD:0009758]
synonym: "hypercalcemia, familial benign, type 2" RELATED [OMIM:145981]
synonym: "hypocalciuric hypercalcemia type II" EXACT [DOID:0060701]
synonym: "hypocalciuric hypercalcemia, familial, type 2" RELATED [GARD:0009758, OMIM:145981]
synonym: "hypocalciuric hypercalcemia, familial, type II" RELATED [MONDO:Lexical, OMIM:145981]
xref: DOID:0060701 {source="MONDO:equivalentTo"}
xref: GARD:9758 {source="MONDO:GARD"}
xref: ICD10CM:E83.5 {source="Orphanet:101049/attributed", source="Orphanet:101049/ntbt", source="Orphanet:101049", source="DOID:0060701"}
xref: MEDGEN:374447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537146 {source="Orphanet:101049", source="MONDO:equivalentTo", source="Orphanet:101049/e"}
xref: OMIM:145981 {source="Orphanet:101049", source="MONDO:equivalentTo", source="DOID:0060701", source="Orphanet:101049/e"}
xref: Orphanet:101049 {source="MONDO:equivalentTo", source="OMIM:145981", source="DOID:0060701"}
xref: Orphanet:405 {source="OMIM:145981"}
xref: UMLS:C1840347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374447"}
is_a: MONDO:0018458 {source="DC-OMIM:145981", source="DOID:0060701", source="OMIM:145981", source="Orphanet:101049"} ! familial hypocalciuric hypercalcemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007793
name: hypochondroplasia
def: "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." [Orphanet:429]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6724", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1271", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:429"}
subset: orphanet_rare {source="Orphanet:429"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146000]
synonym: "hypochondroplasia" EXACT [MONDO:Lexical, OMIM:146000]
xref: DOID:0080041 {source="MONDO:equivalentTo"}
xref: GARD:6724 {source="MONDO:GARD"}
xref: ICD10CM:Q77.4 {source="Orphanet:429/inclusion", source="Orphanet:429", source="MONDO:directSiblingOf", source="Orphanet:429/ntbt"}
xref: icd11.foundation:1930265486 {source="MONDO:equivalentTo", source="Orphanet:429"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10020967 {source="Orphanet:429", source="Orphanet:429/e"}
xref: MEDGEN:98376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562937 {source="MONDO:equivalentTo"}
xref: NANDO:2201010 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118697 {source="MONDO:equivalentTo"}
xref: NORD:1271 {source="MONDO:NORD"}
xref: OMIM:146000 {source="MONDO:equivalentTo", source="Orphanet:429", source="Orphanet:429/e"}
xref: Orphanet:429 {source="OMIM:146000", source="MONDO:equivalentTo"}
xref: SCTID:205468002 {source="MONDO:equivalentTo"}
xref: UMLS:C0410529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98376"}
is_a: MONDO:0005516 {source="DOID:0080041", source="NCIT:C118697"} ! osteochondrodysplasia
is_a: MONDO:0019685 {source="Orphanet:429", source="PMID:31633310"} ! FGFR3-related chondrodysplasia
relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:429", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia" xsd:anyURI {source="GARD:0006724"}

[Term]
id: MONDO:0007794
name: hypogonadotropic hypogonadism 7 with or without anosmia
def: "A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." [DOID:0090078, PMID:17235395, PMID:9371856]
subset: gard_rare {source="GARD:2897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HH7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146110]
synonym: "hypogonadism, isolated hypogonadotropic" RELATED [OMIM:146110]
synonym: "hypogonadotropic hypogonadism 7 with or without anosmia" EXACT [MONDO:Lexical, OMIM:146110]
synonym: "hypogonadotropic hypogonadism 7 without anosmia" EXACT [OMIM:146110, OMIM:genemap2]
synonym: "idiopathic hypogonadotropic hypogonadism" RELATED [OMIM:146110]
xref: DOID:0090078 {source="MONDO:equivalentTo"}
xref: GARD:2897 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090078"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200382 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:146110 {source="DOID:0090078", source="MONDO:equivalentTo"}
xref: SCTID:123953004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87440"}
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0018555 {source="DOID:0090078", source="MONDO:Redundant", source="OMIM:146110"} ! hypogonadotropic hypogonadism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007795
name: mullerian duct anomalies-limb anomalies syndrome
def: "Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." [Orphanet:2491]
subset: gard_rare {source="GARD:2908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2491"}
subset: ordo_malformation_syndrome {source="Orphanet:2491"}
subset: orphanet_rare {source="Orphanet:2491"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypomelia mullerian duct anomalies" RELATED [GARD:0002908]
synonym: "hypomelia with mullerian duct anomalies" RELATED [OMIM:146160]
synonym: "limb uterus syndrome" RELATED [GARD:0002908]
synonym: "limb-uterus syndrome" RELATED [OMIM:146160]
synonym: "Müllerian duct anomalies-limb anomalies syndrome" RELATED [Orphanet:2491]
synonym: "severe upper limb hypoplasia and Mullerian duct anomalies" RELATED [GARD:0002908]
xref: GARD:2908 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2491/attributed", source="Orphanet:2491/ntbt", source="Orphanet:2491"}
xref: MEDGEN:327078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537155 {source="MONDO:equivalentTo"}
xref: OMIM:146160 {source="Orphanet:2491/e", source="MONDO:equivalentTo", source="Orphanet:2491"}
xref: Orphanet:2491 {source="MONDO:equivalentTo", source="OMIM:146160"}
xref: UMLS:C1840335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327078"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0015161 {source="Orphanet:2491"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2491", source="Orphanet:2491/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0007796
name: hypoparathyroidism, familial isolated 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FIH" BROAD ABBREVIATION [OMIM:146200]
synonym: "FIH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146200]
synonym: "hypoparathyroidism familial isolated" RELATED [GARD:0002910]
synonym: "hypoparathyroidism, autosomal dominant" RELATED [OMIM:146200]
synonym: "hypoparathyroidism, autosomal recessive" RELATED [OMIM:146200]
synonym: "hypoparathyroidism, familial isolated" BROAD [MONDO:Lexical, OMIM:146200]
synonym: "hypoparathyroidism, familial isolated 1" EXACT [OMIM:146200]
xref: MEDGEN:1713884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:146200 {source="GARD:0002910", source="MONDO:equivalentTo"}
xref: Orphanet:189466 {source="OMIM:146200"}
xref: Orphanet:2238 {source="GARD:0002910", source="OMIM:146200"}
xref: SCTID:237657009 {source="MONDO:equivalentTo"}
xref: UMLS:C5241444 {source="MEDGEN:1713884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016390 {source="Orphanet:2238/btnt", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism
intersection_of: MONDO:0016390 ! familial hypoparathyroidism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9606 ! PTH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9606 ! PTH

[Term]
id: MONDO:0007797
name: hypoparathyroidism-deafness-renal disease syndrome
def: "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." [Orphanet:2237]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2911", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:837"}
subset: ordo_disorder {source="Orphanet:2237"}
subset: ordo_malformation_syndrome {source="Orphanet:2237"}
subset: orphanet_rare {source="Orphanet:2237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Barakat Syndrome" EXACT [NORD:837]
synonym: "Barakat syndrome" EXACT [DOID:0060878, OMIM:146255, Orphanet:2237]
synonym: "HDR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146255]
synonym: "HDR syndrome" EXACT [DOID:0060878, Orphanet:2237]
synonym: "hypoparathyroidism, deafness, and renal anomalies syndrome" EXACT [NCIT:C130983]
synonym: "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT [DOID:0060878, MONDO:Lexical, OMIM:146255]
synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia" RELATED [GARD:0002911]
synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" RELATED [OMIM:146255]
synonym: "hypoparathyroidism-deafness-renal disease syndrome" EXACT CLINGEN_LABEL []
synonym: "nephrosis, nerve deafness, and hypoparathyroidism" RELATED [OMIM:146255]
xref: DOID:0060878 {source="MONDO:equivalentTo"}
xref: GARD:2911 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/attributed", source="Orphanet:2237/ntbt"}
xref: MEDGEN:374443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537907 {source="MONDO:equivalentTo"}
xref: NCIT:C130983 {source="MONDO:equivalentTo"}
xref: NORD:837 {source="MONDO:NORD"}
xref: OMIM:146255 {source="MONDO:equivalentTo", source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/e"}
xref: Orphanet:2237 {source="MONDO:equivalentTo", source="OMIM:146255", source="DOID:0060878"}
xref: SCTID:724282009 {source="MONDO:equivalentTo"}
xref: UMLS:C1840333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374443"}
is_a: MONDO:0000761 {source="DOID:0060878"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130983"} ! syndromic disease
is_a: MONDO:0016892 {source="Orphanet:2237"} ! partial deletion of the short arm of chromosome 10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4172 {source="MONDO:mim2gene_medgen"} ! GATA3

[Term]
id: MONDO:0007798
name: obsolete adult hypophosphatasia
def: "OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." [Orphanet:247676]
subset: clingen {source="MONDO:CLINGEN"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247676"}
synonym: "adult phosphoethanolaminuria" EXACT [Orphanet:247676]
synonym: "adult Rathburn disease" EXACT [Orphanet:247676]
synonym: "hypophosphatasia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "hypophosphatasia, ADULT" RELATED [OMIM:146300]
synonym: "hypophosphatasia, mild" RELATED [OMIM:146300]
synonym: "mild hypophosphatasia" RELATED [DOID:0110913]
synonym: "obsolete adult hypophosphatasia" EXACT CLINGEN_LABEL []
synonym: "odontohypophosphatasia" RELATED [OMIM:146300]
xref: DOID:0110913 {source="MONDO:obsoleteEquivalent"}
xref: GARD:17193 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E83.3 {source="Orphanet:247676/attributed", source="Orphanet:247676/ntbt", source="MONDO:relatedTo", source="Orphanet:247676"}
xref: OMIM:146300 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="DOID:0110913", source="Orphanet:247676/e"}
xref: Orphanet:247676 {source="MONDO:obsoleteEquivalent", source="OMIM:146300", source="DOID:0110913"}
xref: Orphanet:247685 {source="OMIM:146300"}
xref: Orphanet:436 {source="OMIM:146300"}
xref: SCTID:20756002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2906" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
is_obsolete: true
consider: MONDO:0600009
consider: MONDO:0600010
consider: MONDO:0600011

[Term]
id: MONDO:0007799
name: hypophosphatemic bone disease
synonym: "HBD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146350]
synonym: "hypophosphatemic bone disease" EXACT [MONDO:Lexical, OMIM:146350]
xref: MEDGEN:333534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564145 {source="MONDO:equivalentTo"}
xref: OMIM:146350 {source="MONDO:equivalentTo"}
xref: UMLS:C1840321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333534"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007800
name: chromosome 18p deletion syndrome
def: "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." [Orphanet:1598]
subset: disease_grouping
subset: gard_rare {source="GARD:8631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1598"}
subset: ordo_group_of_disorders {source="Orphanet:261974"}
subset: orphanet_rare {source="Orphanet:1598"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "18p syndrome" EXACT [DOID:0060406, NCIT:C84521, OMIM:146390, Orphanet:1598]
synonym: "18p-" EXACT [GARD:0008631]
synonym: "chromosome 18p deletion" EXACT [GARD:0008631]
synonym: "chromosome 18p deletion syndrome" EXACT [OMIM:146390]
synonym: "De Grouchy syndrome" EXACT [DOID:0060406, Orphanet:1598]
synonym: "deletion 18p syndrome" EXACT [NCIT:C84521]
synonym: "monosomy 18p" EXACT [DOID:0060406]
synonym: "monosomy type 18p" EXACT [MONDORULE:4, Orphanet:1598]
synonym: "partial deletion of chromosome 18p" EXACT [Orphanet:261974]
synonym: "partial deletion of the short arm of chromosome 18" EXACT [MONDO:0016896]
synonym: "partial deletion of the short arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261974]
synonym: "partial monosomy of chromosome 18p" EXACT [Orphanet:261974]
synonym: "partial monosomy of the short arm of chromosome 18" EXACT [Orphanet:261974]
xref: DOID:0060406 {source="MONDO:equivalentTo"}
xref: GARD:8631 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1598/attributed", source="Orphanet:1598/ntbt", source="Orphanet:1598", source="Orphanet:261974", source="Orphanet:261974/attributed", source="Orphanet:261974/ntbt"}
xref: icd11.foundation:121037615 {source="MONDO:equivalentTo", source="Orphanet:261974", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538309 {source="MONDO:equivalentTo", source="DOID:0060406"}
xref: NCIT:C84521 {source="MONDO:equivalentTo", source="DOID:0060406"}
xref: OMIM:146390 {source="Orphanet:1598", source="MONDO:equivalentTo", source="DOID:0060406", source="Orphanet:1598/e"}
xref: Orphanet:1598 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0060406", source="OMIM:146390"}
xref: Orphanet:261974 {source="MONDO:equivalentTo"}
xref: SCTID:205631008 {source="DOID:0060406"}
xref: SCTID:205632001 {source="DOID:0060406"}
xref: SCTID:270890001 {source="MONDO:equivalentTo", source="DOID:0060406"}
xref: UMLS:C0432442 {source="MONDO:equivalentTo", source="MEDGEN:96604", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:146390", source="DOID:0060406"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84521"} ! syndromic disease
is_a: MONDO:0016880 {source="Orphanet:261974"} ! partial deletion of chromosome 18
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr18p ! 18p (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1598", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0007801
name: obsolete hypoplasia of teeth roots
synonym: "hypoplasia of teeth roots" RELATED [OMIM:146400]
xref: MESH:C564144 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:146400 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:99789 {source="MONDO:relatedTo", source="OMIM:146400"}
is_obsolete: true
consider: MONDO:0007436

[Term]
id: MONDO:0007802
name: hypospadias 3, autosomal
subset: gard_rare {source="GARD:18184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypospadias 3, autosomal" EXACT [MONDO:Lexical, OMIM:146450]
synonym: "hypospadias 3, autosomal, multifactorial" EXACT [OMIM:146450, OMIM:genemap2]
synonym: "HYSP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146450]
xref: GARD:18184 {source="MONDO:GARD"}
xref: MEDGEN:382538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567191 {source="MONDO:equivalentTo"}
xref: OMIM:146450 {source="MONDO:equivalentTo"}
xref: Orphanet:440 {source="OMIM:146450"}
xref: UMLS:C2675154 {source="MEDGEN:382538", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005345 {source="DC-OMIM:146450", source="MESH:C567191", source="OMIM:146450"} ! hypospadias
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007803
name: multiple system atrophy
def: "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years." [Orphanet:102]
subset: gard_rare {source="GARD:7079", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1472"}
subset: ordo_disorder {source="Orphanet:102"}
subset: orphanet_rare {source="Orphanet:102"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autonomic failure, Pure" RELATED [OMIM:146500]
synonym: "hypotension, orthostatic" RELATED [OMIM:146500]
synonym: "MSA" EXACT ABBREVIATION [Orphanet:102]
synonym: "multisystem atrophy" EXACT [Orphanet:102]
synonym: "Shy-Drager syndrome" EXACT [DOID:4752]
synonym: "Shy-dragger syndrome (formerly)" RELATED [GARD:0007079]
synonym: "susceptibility to multiple system atrophy 1" RELATED [OMIM:146500]
xref: DOID:4752 {source="MONDO:equivalentTo"}
xref: EFO:1001050 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7079 {source="MONDO:GARD"}
xref: ICD10CM:G90.3 {source="Orphanet:102/e", source="Orphanet:102"}
xref: icd11.foundation:1890931931 {source="MONDO:equivalentTo", source="Orphanet:102"}
xref: MedDRA:10064060 {source="Orphanet:102/e", source="Orphanet:102"}
xref: MEDGEN:98276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012791 {source="DOID:4752"}
xref: MESH:D019578 {source="DOID:4752", source="Orphanet:102/e", source="MONDO:equivalentTo", source="Orphanet:102"}
xref: NANDO:1200034 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84909 {source="DOID:4752", source="MONDO:equivalentTo"}
xref: NCIT:C85066 {source="DOID:4752"}
xref: NORD:1472 {source="MONDO:NORD"}
xref: Orphanet:102 {source="MONDO:equivalentTo", source="OMIM:146500"}
xref: SCTID:16576004 {source="DOID:4752"}
xref: SCTID:230297002 {source="DOID:4752"}
xref: UMLS:C0393571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98276"}
is_a: MONDO:0000510 {source="DOID:4752", source="PMID:24262191"} ! synucleinopathy
is_a: MONDO:0005395 ! movement disorder
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: excluded_subClassOf MONDO:0015914 {source="Orphanet:102", source="https://orcid.org/0000-0001-5208-3432"} ! primary orthostatic hypotension
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0007804
name: Pallister-Hall syndrome
def: "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." [Orphanet:672]
subset: gard_rare {source="GARD:7305", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1545"}
subset: ordo_disorder {source="Orphanet:672"}
subset: ordo_malformation_syndrome {source="Orphanet:672"}
subset: orphanet_rare {source="Orphanet:672"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ano-cerebro-digital syndrome" EXACT [NCIT:C84987]
synonym: "hypothalamic hamartoblastoma syndrome" EXACT [Orphanet:672]
synonym: "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly" EXACT [OMIM:146510]
synonym: "Pallister Hall syndrome" EXACT [GARD:0007305]
synonym: "Pallister-Hall syndrome" EXACT [MONDO:Lexical, OMIM:146510]
synonym: "PHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146510]
xref: DOID:9248 {source="MONDO:equivalentTo"}
xref: GARD:7305 {source="MONDO:GARD"}
xref: ICD10CM:D33.0 {source="Orphanet:672/attributed", source="Orphanet:672/ntbt", source="Orphanet:672"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054975 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:equivalentTo", source="Orphanet:672"}
xref: NCIT:C84987 {source="DOID:9248", source="MONDO:equivalentTo"}
xref: NORD:1545 {source="MONDO:NORD"}
xref: OMIM:146510 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:equivalentTo", source="Orphanet:672"}
xref: Orphanet:672 {source="MONDO:equivalentTo", source="OMIM:146510"}
xref: SCTID:56677004 {source="DOID:9248", source="MONDO:equivalentTo"}
xref: UMLS:C0265220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120514"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84987"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:672"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome" xsd:anyURI {source="GARD:0007305"}

[Term]
id: MONDO:0007805
name: hypotrichosis 2
def: "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18093", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDSN hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Htss" RELATED [OMIM:146520]
synonym: "Htss1" RELATED EXCLUDE [DOID:0110699]
synonym: "hypotrichosis 2" EXACT [MONDO:Lexical, OMIM:146520]
synonym: "hypotrichosis caused by mutation in CDSN" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis simplex of the scalp 1" EXACT [DOID:0110699, OMIM:146520]
synonym: "hypotrichosis type 2" EXACT [DOID:0110699, MONDORULE:1, OMIM:146520]
synonym: "hypotrichosis, Spanish type" RELATED [OMIM:146520]
synonym: "HYPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146520]
synonym: "hypt2" EXACT [DOID:0110699]
synonym: "Spanish type hypotrichosis" EXACT [DOID:0110699]
xref: DOID:0110699 {source="MONDO:equivalentTo"}
xref: GARD:18093 {source="MONDO:GARD"}
xref: MEDGEN:374435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564143 {source="MONDO:equivalentTo"}
xref: OMIM:146520 {source="DOID:0110699", source="MONDO:equivalentTo"}
xref: Orphanet:90368 {source="OMIM:146520"}
xref: UMLS:C1840299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374435"}
is_a: MONDO:0003037 {source="DC-OMIM:146520", source="DOID:0110699", source="MESH:C564143", source="MONDO:Redundant", source="OMIM:146520", source="OMIM:146520/inferred"} ! hypotrichosis
is_a: MONDO:0019575 {source="Orphanet:90368/btnt"} ! hypotrichosis simplex of the scalp
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1802 ! CDSN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1802 {source="MONDO:mim2gene_medgen"} ! CDSN

[Term]
id: MONDO:0007806
name: obsolete hypotrichosis 4
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6357" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100522

[Term]
id: MONDO:0007807
name: hypoxanthine guanine phosphoribosyltransferase suppressor
synonym: "hypoxanthine guanine phosphoribosyltransferase suppressor" EXACT [OMIM:146580]
xref: MEDGEN:326701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:146580 {source="MONDO:equivalentTo"}
xref: UMLS:C1840297 {source="MONDO:equivalentTo", source="MEDGEN:326701", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007808
name: ichthyosis hystrix of Curth-Macklin
def: "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." [Orphanet:79503]
subset: gard_rare {source="GARD:2954", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1281", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79503"}
subset: orphanet_rare {source="Orphanet:79503"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Curth-Macklin type ichthyosis hystrix" EXACT [GARD:0002954]
synonym: "ichthyosis histrix, curth-macklin type" EXACT [OMIM:146590, OMIM:genemap2]
synonym: "Ichthyosis Hystrix, Curth Macklin Type" EXACT [NORD:1281]
synonym: "ichthyosis hystrix, Curth Macklin type" EXACT [GARD:0002954]
synonym: "ichthyosis HYSTRIX, Curth-Macklin type" EXACT [MONDO:Lexical, OMIM:146590]
synonym: "ichthyosis hystrix, Curth-Macklin type" EXACT [OMIM:146590, Orphanet:79503]
synonym: "IHCM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146590]
xref: GARD:2954 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:79503/attributed", source="Orphanet:79503/ntbt", source="Orphanet:79503"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:326700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536088 {source="Orphanet:79503", source="MONDO:equivalentTo", source="Orphanet:79503/e"}
xref: NORD:1281 {source="MONDO:NORD"}
xref: OMIM:146590 {source="Orphanet:79503", source="MONDO:equivalentTo", source="Orphanet:79503/e"}
xref: Orphanet:79503 {source="OMIM:146590", source="MONDO:equivalentTo"}
xref: SCTID:254170001 {source="MONDO:equivalentTo"}
xref: UMLS:C1840296 {source="MEDGEN:326700", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017266 {source="Orphanet:79503"} ! keratinopathic ichthyosis
is_a: MONDO:0859383 {source="OMIM:146590"} ! ichthyosis hystrix
intersection_of: MONDO:0859383 ! ichthyosis hystrix
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 ! KRT1
relationship: excluded_subClassOf MONDO:0017266 {source="Orphanet:79503", source="https://orcid.org/0000-0001-5208-3432"} ! keratinopathic ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007809
name: ichthyosis histrix, Lambert type
subset: gard_rare {source="GARD:9497", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis hystrix gravior" EXACT [OMIM:146600]
synonym: "ichthyosis, Lambert type" EXACT [OMIM:146600, Orphanet:79504]
synonym: "Lambert type ichthyosis" RELATED [GARD:0009497]
synonym: "porcupine Man" RELATED [OMIM:146600]
xref: GARD:9497 {source="MONDO:GARD"}
xref: ICD10CM:Q80.0 {source="Orphanet:79504", source="MONDO:relatedTo", source="Orphanet:79504/attributed", source="Orphanet:79504/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536087 {source="Orphanet:79504", source="MONDO:equivalentTo", source="Orphanet:79504/e"}
xref: OMIM:146600 {source="Orphanet:79504", source="MONDO:equivalentTo", source="Orphanet:79504/e"}
xref: Orphanet:79504 {source="MONDO:equivalentObsolete", source="OMIM:146600"}
xref: SCTID:254174005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98487"}
is_a: MONDO:0859383 {source="OMIM:146600"} ! ichthyosis hystrix
intersection_of: MONDO:0859383 ! ichthyosis hystrix
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6413 ! KRT10
relationship: excluded_subClassOf MONDO:0017266 {source="Orphanet:79504", source="https://orcid.org/0000-0001-5208-3432"} ! keratinopathic ichthyosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior" xsd:anyURI {source="GARD:0009497"}

[Term]
id: MONDO:0007810
name: autosomal dominant ichthyosis vulgaris
def: "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." [https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris]
subset: inferred_rare
subset: rare
synonym: "autosomal dominant ichthyosis vulgaris" EXACT CLINGEN_LABEL []
synonym: "dominant congenital ichthyosiform erythroderma" EXACT [DOID:1702]
synonym: "dominant ichthyosis vulgaris" RELATED [GARD:0001897]
synonym: "ichthyosis simplex" RELATED [OMIM:146700]
synonym: "ichthyosis vulgaris" RELATED [OMIM:146700]
synonym: "ichthyosis vulgaris, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
xref: DOID:1702 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q80.0 {source="MONDO:equivalentTo", source="DOID:1702"}
xref: MEDGEN:609440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016112 {source="DOID:1702"}
xref: NCIT:C84778 {source="DOID:1702", source="MONDO:directSiblingOf"}
xref: OMIM:146700 {source="MONDO:equivalentTo", source="DOID:1702"}
xref: Orphanet:462 {source="MONDO:equivalentObsolete"}
xref: SCTID:20512000 {source="DOID:1702"}
xref: SCTID:205551004 {source="DOID:1702"}
xref: SCTID:254157005 {source="MONDO:equivalentTo", source="DOID:1702"}
xref: UMLS:C0432300 {source="MONDO:equivalentTo", source="MEDGEN:609440", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:1702", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015947 {source="ICD10CM:Q80.0", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited ichthyosis
is_a: MONDO:0019269 {source="MESH:D016112", source="MONDO:Redundant", source="NCIT:C84778"} ! ichthyosis
intersection_of: MONDO:0024304 ! ichthyosis vulgaris
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:146700"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3748 {source="MONDO:mim2gene_medgen"} ! FLG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4293" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0007811
name: ichthyosis-cheek-eyebrow syndrome
def: "Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant." [Orphanet:2267]
subset: otar {source="MONDO:OTAR"}
synonym: "Ice syndrome" RELATED [OMIM:146720]
synonym: "ichthyosis cheek eyebrow syndrome" RELATED [GARD:0002947]
synonym: "ichthyosis--cheek--eyebrow syndrome" RELATED [OMIM:146720]
synonym: "Sidransky Feinstein Goodman syndrome" RELATED [GARD:0002947]
synonym: "Sidransky-Feinstein-Goodman syndrome" EXACT [Orphanet:2267]
xref: MEDGEN:326697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536084 {source="Orphanet:2267", source="MONDO:equivalentTo", source="Orphanet:2267/e"}
xref: OMIM:146720 {source="Orphanet:2267", source="MONDO:equivalentTo", source="Orphanet:2267/e"}
xref: Orphanet:2267 {source="MONDO:equivalentObsolete", source="OMIM:146720"}
xref: SCTID:716097001 {source="MONDO:equivalentTo"}
xref: UMLS:C1840283 {source="MEDGEN:326697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0007812
name: ichthyosis, lamellar, autosomal dominant
subset: gard_rare {source="GARD:9735", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis lamellar, autosomal dominant" RELATED [GARD:0009735]
synonym: "ichthyosis, lamellar, autosomal dominant" EXACT [OMIM:146750]
synonym: "lamellar ichthyosis, autosomal dominant" RELATED [OMIM:146750]
xref: GARD:9735 {source="MONDO:GARD"}
xref: MEDGEN:98486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537263 {source="MONDO:equivalentTo"}
xref: OMIM:146750 {source="MONDO:equivalentTo"}
xref: Orphanet:313 {source="OMIM:146750"}
xref: SCTID:254164007 {source="MONDO:equivalentTo"}
xref: UMLS:C0432304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98486"}
is_a: MONDO:0017778 {source="MESH:C537263"} ! lamellar ichthyosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant" xsd:anyURI {source="GARD:0009735"}

[Term]
id: MONDO:0007813
name: superficial epidermolytic ichthyosis
def: "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth." [Orphanet:455]
subset: gard_rare {source="GARD:2966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:455"}
subset: orphanet_rare {source="Orphanet:455"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bullous type ichthyosis" EXACT [DOID:0060877]
synonym: "bullous type of ichthyosis" RELATED [GARD:0002966]
synonym: "IBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146800]
synonym: "ichthyosis bullosa of Siemens" EXACT [MONDO:Lexical, OMIM:146800, Orphanet:455]
synonym: "ichthyosis exfoliativa" RELATED [OMIM:146800]
synonym: "ichthyosis, bullous type" RELATED [OMIM:146800]
synonym: "SEI" EXACT ABBREVIATION [Orphanet:455, PMID:20643494]
synonym: "superficial epidermolytic ichthyosis" EXACT [DOID:0060877, PMID:20643494]
xref: DOID:0060877 {source="MONDO:equivalentTo"}
xref: GARD:2966 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:455", source="Orphanet:455/attributed", source="Orphanet:455/ntbt", source="DOID:0060877"}
xref: MEDGEN:98153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053560 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"}
xref: NANDO:1200613 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200990 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84777 {source="MONDO:equivalentTo"}
xref: OMIM:146800 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"}
xref: Orphanet:455 {source="MONDO:equivalentTo", source="DOID:0060877", source="OMIM:146800"}
xref: SCTID:254169002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98153"}
is_a: MONDO:0017266 {source="Orphanet:455"} ! keratinopathic ichthyosis
is_a: MONDO:0017339 ! exfoliative ichthyosis
relationship: excluded_subClassOf MONDO:0019269 {source="DOID:0060877", source="MESH:D053560", source="NCIT:C84777", source="Orphanet:455/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6439 {source="MONDO:mim2gene_medgen"} ! KRT2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens" xsd:anyURI {source="GARD:0002966"}

[Term]
id: MONDO:0007814
name: immune deficiency, familial variable
subset: gard_rare {source="GARD:2984", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "immune deficiency, familial variable" EXACT [OMIM:146830]
xref: GARD:2984 {source="MONDO:GARD"}
xref: MEDGEN:374426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564136 {source="MONDO:equivalentTo"}
xref: OMIM:146830 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:146830"}
xref: UMLS:C1840266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374426"}
is_a: MONDO:0015517 {source="Orphanet:1572/btnt"} ! common variable immunodeficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable" xsd:anyURI {source="GARD:0002984"}

[Term]
id: MONDO:0007815
name: obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3804" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007818

[Term]
id: MONDO:0007816
name: obsolete immune suppression
synonym: "immune suppression" EXACT [MONDO:Lexical, OMIM:146850]
synonym: "IS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146850]
synonym: "Iscw" RELATED [OMIM:146850]
synonym: "streptococcal cell wall antigen, suppression of immune response to" RELATED [OMIM:146850]
xref: OMIM:146850 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeBiologicalProcess"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007817
name: IgE responsiveness, atopic
def: "Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue." [NCIT:C3116]
subset: otar {source="MONDO:OTAR"}
synonym: "Atopic hypersensitivity" RELATED [OMIM:147050]
synonym: "atopy, susceptibility to" RELATED [OMIM:147050]
synonym: "IgE response underlying allergic asthma and rhinitis" RELATED [OMIM:147050]
synonym: "IgE responsiveness, ATOPIC" RELATED [OMIM:147050]
synonym: "IgE responsiveness, atopic" EXACT [MONDO:Lexical, OMIM:147050]
synonym: "IgE, elevated level of" EXACT [OMIM:147050, OMIM:genemap2]
synonym: "IgE, level of" RELATED [OMIM:147050]
synonym: "IGER" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147050]
synonym: "immediate hypersensitivity" EXACT [NCIT:C3116]
synonym: "Immunoglobulin E, basic level of, in serum" RELATED [OMIM:147050]
synonym: "type 1 hypersensitivity" EXACT [NCIT:C3116]
synonym: "type 1 hypersensitivity reaction" EXACT [NCIT:C3116]
synonym: "type I hypersensitivity" EXACT [NCIT:C3116]
synonym: "type I hypersensitivity reaction" EXACT [NCIT:C3116]
synonym: "type I immediate hypersensitivity reaction" EXACT [NCIT:C3116]
xref: MEDGEN:327063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564133 {source="MONDO:equivalentTo"}
xref: NCIT:C3116 {source="MONDO:equivalentTo"}
xref: OMIM:147050 {source="MONDO:equivalentTo"}
xref: UMLS:C1840253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327063"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004980 ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007818
name: hyper-IgE recurrent infection syndrome 1, autosomal dominant
def: "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome." [NCIT:C126342]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6800", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2314"}
subset: orphanet_rare {source="Orphanet:2314"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AD hyperimmunoglobulin E syndrome" EXACT [GARD:0006800]
synonym: "AD-HIES" EXACT [GARD:0006800, Orphanet:2314]
synonym: "autosomal dominant HIES" EXACT [Orphanet:2314]
synonym: "autosomal dominant hyper IgE syndrome" EXACT [GARD:0006800]
synonym: "autosomal dominant hyper-IgE syndrome" EXACT [NCIT:C126342]
synonym: "autosomal dominant hyperimmunoglobulin E syndrome" EXACT [Orphanet:2314]
synonym: "Buckley syndrome" EXACT [Orphanet:2314]
synonym: "HIES autosomal dominant" EXACT [GARD:0006800]
synonym: "HIES, autosomal dominant" EXACT [OMIM:147060]
synonym: "hyper Ig E syndrome, autosomal dominant" EXACT [GARD:0006800]
synonym: "hyper-IgE recurrent infection syndrome" BROAD [NCIT:C126342]
synonym: "hyper-IgE recurrent infection syndrome, autosomal dominant" EXACT [OMIM:147060]
synonym: "hyper-IgE syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant" EXACT [GARD:0006800]
synonym: "hyperimmunoglobulin E syndrome" BROAD EXCLUDE [DOID:3261]
synonym: "hyperimmunoglobulin E syndrome type 1" EXACT [Orphanet:2314]
synonym: "hyperimmunoglobulin E-recurrent infection syndrome" BROAD [Orphanet:2314]
synonym: "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" EXACT [OMIM:146840]
synonym: "JOB syndrome" EXACT [DOID:3261, OMIM:147060, Orphanet:2314]
synonym: "Job syndrome autosomal dominant" EXACT [GARD:0006800]
synonym: "Job's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "STAT3 deficiency" EXACT [Orphanet:2314]
xref: DOID:3261 {source="EFO:0003775", source="MONDO:equivalentTo"}
xref: GARD:6800 {source="MONDO:GARD"}
xref: ICD10CM:D82.4 {source="Orphanet:2314", source="Orphanet:2314/attributed", source="Orphanet:2314/ntbt"}
xref: MEDGEN:1648470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564135 {source="MONDO:equivalentTo"}
xref: MESH:C567925 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: MESH:D007589 {source="EFO:0003775", source="DOID:3261"}
xref: NCIT:C126342 {source="MONDO:equivalentTo"}
xref: NCIT:C3144 {source="EFO:0003775"}
xref: OMIM:146840 {source="MONDO:equivalentObsolete"}
xref: OMIM:147060 {source="GARD:0006800", source="EFO:0003775", source="MONDO:equivalentTo", source="Orphanet:2314", source="DOID:3261", source="Orphanet:2314/e"}
xref: Orphanet:2314 {source="GARD:0006800", source="MONDO:equivalentTo", source="OMIM:147060"}
xref: SCTID:50926003 {source="EFO:0003775", source="MONDO:equivalentTo"}
xref: UMLS:C4721531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648470"}
is_a: MONDO:0002468 {source="DOID:3261", source="NCIT:C126342/inferred"} ! hyperimmunoglobulin syndrome
is_a: MONDO:0003778 {source="DC-OMIM:146840", source="MESH:C564135"} ! inborn error of immunity
is_a: MONDO:0003847 {source="OMIM:147060"} ! hereditary disease
is_a: MONDO:0018037 {source="MONDO:Redundant", source="Orphanet:2314"} ! hyper-IgE syndrome
intersection_of: MONDO:0018037 {source="MONDO:mim2gene_medgen"} ! hyper-IgE syndrome
intersection_of: has_characteristic HP:0000006 {source="MONDO:mim2gene_medgen"} ! Autosomal dominant inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11364 {source="MONDO:mim2gene_medgen"} ! STAT3
relationship: excluded_subClassOf MONDO:0019305 {source="Orphanet:2314", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete immune deficiency with skin involvement
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3804" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome" xsd:anyURI {source="GARD:0006800"}

[Term]
id: MONDO:0007819
name: solitary median maxillary central incisor syndrome
def: "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified." [OMIM:147250]
subset: gard_rare {source="GARD:4877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fused incisors" RELATED [OMIM:147250]
synonym: "incisors fused" RELATED [GARD:0004877]
synonym: "incisors, Fused" RELATED [OMIM:147250]
synonym: "single central maxillary incisor" RELATED [OMIM:147250]
synonym: "single median maxillary central incisor" EXACT [OMIM:147250, OMIM:genemap2]
synonym: "single upper central incisor" EXACT [OMIM:147250, Orphanet:2286]
synonym: "SMMCI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:147250, Orphanet:2286]
synonym: "SMMCI syndrome" RELATED [OMIM:147250]
synonym: "solitary MEDIAN maxillary central incisor" RELATED [MONDO:Lexical, OMIM:147250]
synonym: "solitary median maxillary central incisor syndrome" EXACT [OMIM:147250]
xref: GARD:4877 {source="MONDO:GARD"}
xref: ICD10CM:K00.2 {source="Orphanet:2286", source="Orphanet:2286/attributed", source="Orphanet:2286/ntbt"}
xref: MEDGEN:326686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537342 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"}
xref: OMIM:147250 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"}
xref: Orphanet:2162 {source="OMIM:147250"}
xref: Orphanet:2286 {source="OMIM:147250", source="MONDO:equivalentObsolete"}
xref: Orphanet:280200 {source="OMIM:147250"}
xref: SCTID:707609006 {source="MONDO:equivalentTo"}
xref: UMLS:C1840235 {source="MEDGEN:326686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016296 {source="Orphanet:2162/btnt", source="Orphanet:2286/inferred"} ! holoprosencephaly
is_a: MONDO:0017219 {source="Orphanet:2286"} ! microform holoprosencephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 {source="MONDO:mim2gene_medgen", source="OMIM:147250"} ! SHH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007820
name: fused mandibular incisors
def: "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure." [Orphanet:2287]
subset: gard_rare {source="GARD:2419", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2287"}
subset: ordo_morphological_anomaly {source="Orphanet:2287"}
subset: orphanet_rare {source="Orphanet:2287"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "'Double Tooth'" RELATED [OMIM:147251]
synonym: "Double tooth" RELATED [GARD:0002419]
synonym: "incisors, FUSED mandibular" RELATED [OMIM:147251]
xref: GARD:2419 {source="MONDO:GARD"}
xref: ICD10CM:K00.2 {source="Orphanet:2287", source="Orphanet:2287/attributed", source="Orphanet:2287/ntbt"}
xref: MEDGEN:488128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535997 {source="Orphanet:2287", source="Orphanet:2287/e"}
xref: OMIM:147251 {source="Orphanet:2287", source="MONDO:equivalentTo", source="Orphanet:2287/e"}
xref: Orphanet:2287 {source="OMIM:147251", source="MONDO:equivalentTo"}
xref: SCTID:707796002 {source="MONDO:equivalentTo"}
xref: UMLS:C3494175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488128"}
is_a: MONDO:0003847 {source="Orphanet:2287/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors" xsd:anyURI {source="GARD:0002419"}

[Term]
id: MONDO:0007821
name: obsolete immunoglobulin switch sequences
comment: Reason: out of scope.
synonym: "immunoglobulin switch sequences" EXACT [OMIM:147260]
synonym: "Immunoglobulin-independent switch Sequences" RELATED [OMIM:147260]
synonym: "S Sequences" RELATED [OMIM:147260]
xref: OMIM:147260 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3955" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007822
name: obsolete incisors, long upper central
comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0000675
synonym: "incisors, long upper central" EXACT [OMIM:147300]
xref: OMIM:147300 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true
consider: HP:0000675

[Term]
id: MONDO:0007823
name: obsolete insulin receptors, familial increase 1N
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "insulin receptors, familial increase IN" RELATED [OMIM:147320]
synonym: "insulin receptors, familial increase type 1N" EXACT [MONDORULE:4, OMIM:147320]
xref: OMIM:147320 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007824
name: incisors, lower central, absence of
synonym: "incisors, lower central, absence of" EXACT [OMIM:147330]
xref: MEDGEN:333512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147330 {source="MONDO:equivalentTo"}
xref: Orphanet:2227 {source="OMIM:147330"}
xref: UMLS:C1840225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333512"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007825
name: incisors, rotation of upper central
synonym: "incisors, rotation of upper central" EXACT [OMIM:147350]
xref: MEDGEN:374416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147350 {source="MONDO:equivalentTo"}
xref: UMLS:C1840224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374416"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007826
name: incisors, shovel-shaped
synonym: "incisors, shovel-shaped" EXACT [OMIM:147400]
synonym: "Sinodonty" RELATED [OMIM:147400]
xref: MEDGEN:278058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147400 {source="MONDO:equivalentTo"}
xref: UMLS:C1409763 {source="MEDGEN:278058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007827
name: inclusion body myositis
def: "A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." [https://orcid.org/0000-0001-5208-3432, Orphanet:611]
subset: gard_rare {source="GARD:3896", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1734"}
subset: ordo_disorder {source="Orphanet:611"}
subset: orphanet_rare {source="Orphanet:611"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal myopathy with rimmed vacuoles" RELATED EXCLUDE [DOID:3429]
synonym: "distal myopathy with rimmed vacuoles (DMRV)" RELATED EXCLUDE [DOID:3429]
synonym: "distal myopathy, Nonaka type" RELATED EXCLUDE [DOID:3429]
synonym: "hereditary inclusion body myopathy" RELATED EXCLUDE [DOID:3429]
synonym: "HIBM" RELATED EXCLUDE [DOID:3429]
synonym: "IBM" EXACT ABBREVIATION [Orphanet:611]
synonym: "Ibm" RELATED [OMIM:147421]
synonym: "IBM-3" RELATED EXCLUDE [DOID:3429]
synonym: "IBM2" RELATED EXCLUDE [DOID:3429]
synonym: "inclusion body myopathy 2" RELATED EXCLUDE [DOID:3429]
synonym: "inclusion body myopathy 3" RELATED EXCLUDE [DOID:3429]
synonym: "inclusion body myositis" EXACT [OMIM:147421]
synonym: "inflammatory myopathy" RELATED [GARD:0003896]
synonym: "Nonaka myopathy" RELATED EXCLUDE [DOID:3429]
synonym: "sIBM" EXACT [Orphanet:611]
synonym: "Sporadic Inclusion Body Myositis" EXACT [NORD:1734]
synonym: "sporadic inclusion body myositis" EXACT [Orphanet:611]
xref: DOID:3429 {source="EFO:0007323", source="MONDO:equivalentTo"}
xref: EFO:0007323 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3896 {source="MONDO:GARD"}
xref: ICD10CM:G72.41 {source="DOID:3429"}
xref: ICD10CM:M60.8 {source="Orphanet:611/ntbt", source="Orphanet:611"}
xref: ICD9:359.71 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:3429"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10066407 {source="Orphanet:611", source="Orphanet:611/e"}
xref: MEDGEN:68659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018979 {source="EFO:0007323", source="MONDO:equivalentTo", source="DOID:3429"}
xref: NANDO:1200032 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200218 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84786 {source="MONDO:equivalentTo", source="DOID:3429"}
xref: NORD:1734 {source="MONDO:NORD"}
xref: OMIM:147421 {source="Orphanet:611", source="MONDO:equivalentTo", source="Orphanet:611/e", source="DOID:3429"}
xref: Orphanet:611 {source="MONDO:equivalentTo", source="OMIM:147421"}
xref: SCTID:72315009 {source="MONDO:equivalentTo", source="DOID:3429"}
xref: UMLS:C0238190 {source="MEDGEN:68659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021167 {source="DOID:3429", source="EFO:0007323", source="MESH:D018979", source="NCIT:C84786"} ! myositis disease

[Term]
id: MONDO:0007828
name: indifference to pain, congenital, autosomal dominant
synonym: "congenital analgesia, autosomal dominant" RELATED [OMIM:147430]
synonym: "indifference to pain, congenital, autosomal dominant" EXACT [OMIM:147430]
synonym: "insensitivity to pain, congenital, autosomal dominant" RELATED [OMIM:147430]
synonym: "MARSILI syndrome" RELATED [OMIM:147430]
synonym: "Marsili syndrome" RELATED [OMIM:147430]
synonym: "MARSIS" RELATED ABBREVIATION [OMIM:147430]
xref: DOID:0081075 {source="MONDO:equivalentTo"}
xref: MEDGEN:1613569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564128 {source="MONDO:equivalentTo"}
xref: OMIM:147430 {source="MONDO:equivalentTo"}
xref: UMLS:C4538468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613569"}
is_a: MONDO:0003847 {source="MESH:C564128/inferred"} ! hereditary disease

[Term]
id: MONDO:0007829
name: cholestasis, intrahepatic, of pregnancy, 1
subset: gard_rare {source="GARD:15079", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cholestasis, intrahepatic, of pregnancy, 1" EXACT [MONDO:Lexical, OMIM:147480]
synonym: "cholestasis, intrahepatic, of pregnancy, type 1" EXACT [MONDORULE:1, OMIM:147480]
synonym: "cholestasis, pregnancy-related, 1" RELATED [OMIM:147480]
synonym: "ICP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147480]
xref: DOID:0070228 {source="MONDO:equivalentTo"}
xref: GARD:15079 {source="MONDO:GARD"}
xref: MEDGEN:762759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147480 {source="MONDO:equivalentTo"}
xref: Orphanet:69665 {source="OMIM:147480"}
xref: UMLS:C3549845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762759"}
is_a: MONDO:0100429 {source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy
relationship: excluded_subClassOf MONDO:0019072 {source="Orphanet:69665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! intrahepatic cholestasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3897" xsd:anyURI

[Term]
id: MONDO:0007830
name: insensitivity to pain with hyperplastic Myelinopathy
synonym: "insensitivity to pain with hyperplastic Myelinopathy" EXACT [OMIM:147530]
xref: MEDGEN:327046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147530 {source="MONDO:equivalentTo"}
xref: UMLS:C1840172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327046"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007831
name: insect Stings, hypersensitivity to
synonym: "insect Stings, hypersensitivity to" EXACT [OMIM:147540]
xref: MEDGEN:327045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147540 {source="MONDO:equivalentTo"}
xref: UMLS:C1840171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327045"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007832
name: interferon antiviral depressor
synonym: "interferon antiviral depressor" EXACT [OMIM:147560]
xref: MEDGEN:333493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147560 {source="MONDO:equivalentTo"}
xref: UMLS:C1840150 {source="MEDGEN:333493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007833
name: iris pigment layer, cleavage of
synonym: "iris pigment layer, cleavage of" EXACT [OMIM:147610]
xref: MEDGEN:326664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147610 {source="MONDO:equivalentTo"}
xref: UMLS:C1840140 {source="MEDGEN:326664", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007834
name: islet cell adenomatosis
def: "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." [NCIT:C4375]
subset: otar {source="MONDO:OTAR"}
synonym: "INSDM" RELATED ABBREVIATION [OMIM:147630]
synonym: "INSULINOMATOSIS and diabetes mellitus" RELATED [OMIM:147630]
synonym: "Insulinomatosis and diabetes mellitus" RELATED [OMIM:147630]
synonym: "islet cell adenomatosis" EXACT [OMIM:147630]
synonym: "nesidioblastosis" RELATED [NCIT:C4375]
xref: MEDGEN:293643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563258 {source="MONDO:equivalentTo"}
xref: NCIT:C4375 {source="MONDO:equivalentTo"}
xref: OMIM:147630 {source="MONDO:equivalentTo"}
xref: SCTID:274944000 {source="MONDO:equivalentTo"}
xref: UMLS:C1578917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:293643"}
is_a: MONDO:0001933 {source="NCIT:C4375"} ! endocrine pancreas disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007835
name: intussusception
def: "Telescoping or invagination of a part of the intestine into an adjacent segment." [NCIT:P378]
synonym: "intussusception" EXACT [OMIM:147710]
synonym: "intussusception (morphologic abnormality)" EXACT [DOID:8446]
synonym: "intussusception of intestine" EXACT [DOID:8446]
synonym: "invagination of intestine or colon" EXACT [DOID:8446]
xref: DOID:8446 {source="MONDO:equivalentTo"}
xref: ICD10CM:K56.1 {source="DOID:8446", source="MONDO:equivalentTo"}
xref: ICD9:560.0 {source="DOID:8446", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:43940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007443 {source="DOID:8446", source="MONDO:equivalentTo"}
xref: NCIT:C113484 {source="DOID:8446", source="MONDO:otherHierarchy"}
xref: OMIM:147710 {source="DOID:8446", source="MONDO:equivalentTo"}
xref: SCTID:155772009 {source="DOID:8446"}
xref: SCTID:197055000 {source="DOID:8446"}
xref: SCTID:35327006 {source="DOID:8446"}
xref: SCTID:49723003 {source="DOID:8446", source="MONDO:equivalentTo"}
xref: UMLS:C0021933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43940"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004565 {source="DOID:8446", source="MESH:D007443"} ! intestinal obstruction

[Term]
id: MONDO:0007836
name: IVIC syndrome
def: "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." [Orphanet:2307]
subset: gard_rare {source="GARD:269", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2307"}
subset: ordo_malformation_syndrome {source="Orphanet:2307"}
subset: orphanet_rare {source="Orphanet:2307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Instituto venezolano de Investigaciones Cientificas syndrome" RELATED [GARD:0000269]
synonym: "IVIC syndrome" EXACT [OMIM:147750]
synonym: "oculo-oto-radial syndrome" EXACT [Orphanet:2307]
synonym: "oculootoradial syndrome" RELATED [OMIM:147750]
synonym: "OORS" RELATED ABBREVIATION [GARD:0000269]
synonym: "radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" RELATED [OMIM:147750]
synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [Orphanet:2307]
xref: DOID:0111381 {source="MONDO:equivalentTo"}
xref: GARD:269 {source="MONDO:GARD"}
xref: ICD10CM:Q71.8 {source="Orphanet:2307/attributed", source="Orphanet:2307/ntbt", source="Orphanet:2307"}
xref: MEDGEN:233003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535544 {source="MONDO:equivalentTo"}
xref: OMIM:147750 {source="Orphanet:2307/e", source="MONDO:equivalentTo", source="Orphanet:2307"}
xref: Orphanet:2307 {source="OMIM:147750", source="MONDO:equivalentTo"}
xref: SCTID:722019000 {source="MONDO:equivalentTo"}
xref: UMLS:C1327918 {source="MONDO:equivalentTo", source="MEDGEN:233003", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15924 {source="MONDO:mim2gene_medgen"} ! SALL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome" xsd:anyURI {source="GARD:0000269"}

[Term]
id: MONDO:0007837
name: Johnson neuroectodermal syndrome
def: "Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." [Orphanet:2316]
subset: gard_rare {source="GARD:378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2316"}
subset: ordo_malformation_syndrome {source="Orphanet:2316"}
subset: orphanet_rare {source="Orphanet:2316"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aadh syndrome" RELATED [OMIM:147770]
synonym: "alopecia anosmia deafness hypogonadism syndrome" RELATED [GARD:0000378]
synonym: "alopecia-anosmia-conductive hearing loss-hypogonadism syndrome" EXACT [Orphanet:2316]
synonym: "alopecia-anosmia-deafness-hypogonadism syndrome" EXACT [OMIM:147770, Orphanet:2316]
synonym: "Johnson neuroectodermal syndrome" EXACT [OMIM:147770]
synonym: "Johnson-McMillin syndrome" EXACT [OMIM:147770, Orphanet:2316]
xref: GARD:378 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2316", source="Orphanet:2316/attributed", source="Orphanet:2316/ntbt"}
xref: MEDGEN:167092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535882 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"}
xref: OMIM:147770 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"}
xref: Orphanet:2316 {source="OMIM:147770", source="MONDO:equivalentTo"}
xref: SCTID:721584005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167092"}
is_a: MONDO:0015159 {source="Orphanet:2316"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019287 {source="MESH:C535882/inferred", source="Orphanet:2316"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2316", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome" xsd:anyURI {source="GARD:0000378"}

[Term]
id: MONDO:0007838
name: Jacobsen syndrome
def: "A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." [https://orcid.org/0000-0001-5208-3432, Orphanet:2308]
subset: gard_rare {source="GARD:307", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2308"}
subset: ordo_malformation_syndrome {source="Orphanet:2308"}
subset: orphanet_rare {source="Orphanet:2308"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "11q terminal deletion disorder" EXACT [NCIT:C75457]
synonym: "chromosome 11q deletion syndrome" RELATED [OMIM:147791]
synonym: "Del(11)(q23.3)" EXACT [Orphanet:2308]
synonym: "Del(11)(qter)" EXACT [Orphanet:2308]
synonym: "distal deletion 11q" EXACT [Orphanet:2308]
synonym: "distal monosomy 11q" EXACT [Orphanet:2308]
synonym: "Jacobsen syndrome" EXACT [MONDO:Lexical, OMIM:147791]
synonym: "Jacobsen syndrome, Isolated cases" EXACT [OMIM:147791, OMIM:genemap2]
synonym: "JBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147791]
synonym: "monosomy 11qter" EXACT [Orphanet:2308]
synonym: "partial 11q monosomy syndrome" RELATED [OMIM:147791]
synonym: "telomeric deletion 11q" EXACT [Orphanet:2308]
xref: DOID:0111723 {source="MONDO:equivalentTo"}
xref: GARD:307 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:2308", source="Orphanet:2308/attributed", source="Orphanet:2308/ntbt"}
xref: MEDGEN:162878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054868 {source="Orphanet:2308/e", source="Orphanet:2308"}
xref: NCIT:C75457 {source="MONDO:equivalentTo"}
xref: OMIM:147791 {source="Orphanet:2308/e", source="MONDO:equivalentTo", source="Orphanet:2308"}
xref: Orphanet:2308 {source="OMIM:147791", source="MONDO:equivalentTo"}
xref: SCTID:715438008 {source="MONDO:equivalentTo"}
xref: UMLS:C0795841 {source="MEDGEN:162878", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C75457", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0016910 {source="Orphanet:2308"} ! partial deletion of the long arm of chromosome 11
is_a: MONDO:0018795 {source="Orphanet:2308"} ! syndromic constitutional thrombocytopenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0007839
name: Aase-Smith syndrome
def: "Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." [Orphanet:916]
subset: gard_rare {source="GARD:5642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:916"}
subset: ordo_malformation_syndrome {source="Orphanet:916"}
subset: orphanet_rare {source="Orphanet:916"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aase-Smith I syndrome" EXACT [Orphanet:916]
synonym: "Aase-Smith syndrome" EXACT [OMIM:147800]
synonym: "Aase-Smith syndrome 1" RELATED [OMIM:147800]
synonym: "Aase-Smith syndrome I" RELATED [OMIM:147800]
synonym: "Aase-Smith syndrome type 1" EXACT [MONDORULE:1, OMIM:147800]
synonym: "hydrocephalus-cleft palate-joint contractures syndrome" EXACT [Orphanet:916]
synonym: "Joint contractures with Other abnormalities" RELATED [OMIM:147800]
xref: GARD:5642 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:916/attributed", source="Orphanet:916/ntbt", source="Orphanet:916"}
xref: MedDRA:10063429 {source="Orphanet:916/e", source="Orphanet:916"}
xref: MEDGEN:66316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535332 {source="Orphanet:916/e", source="MONDO:equivalentTo", source="Orphanet:916"}
xref: OMIM:147800 {source="Orphanet:916/e", source="MONDO:equivalentTo", source="Orphanet:916"}
xref: Orphanet:916 {source="MONDO:equivalentTo", source="OMIM:147800"}
xref: SCTID:718576001 {source="MONDO:equivalentTo"}
xref: UMLS:C0220686 {source="MEDGEN:66316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:916"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation

[Term]
id: MONDO:0007840
name: internal carotid artery, spontaneous dissection of
synonym: "internal carotid artery, spontaneous dissection of" EXACT [OMIM:147820]
xref: MEDGEN:333477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564125 {source="MONDO:equivalentTo"}
xref: OMIM:147820 {source="MONDO:equivalentTo"}
xref: UMLS:C1840073 {source="MONDO:equivalentTo", source="MEDGEN:333477", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007841
name: coxopodopatellar syndrome
def: "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." [Orphanet:1509]
subset: gard_rare {source="GARD:3030", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1509"}
subset: orphanet_rare {source="Orphanet:1509"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" RELATED [GARD:0003030]
synonym: "Coxo-podo-patellar syndrome" RELATED [GARD:0003030]
synonym: "coxopodopatellar syndrome" EXACT CLINGEN_LABEL [OMIM:147891]
synonym: "ICPPS" RELATED ABBREVIATION [OMIM:147891]
synonym: "ischiocoxopodopatellar syndrome" RELATED [OMIM:147891]
synonym: "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT [OMIM:147891, OMIM:genemap2]
synonym: "ischiopatellar dysplasia" EXACT [Orphanet:1509]
synonym: "patella aplasia, coxa vara, tarsal synostosis" RELATED [GARD:0003030]
synonym: "Scott-Taor syndrome" EXACT [OMIM:147891, Orphanet:1509]
synonym: "small patella syndrome" EXACT [MONDO:Lexical, OMIM:147891, Orphanet:1509]
synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147891, Orphanet:1509]
xref: DOID:0111382 {source="MONDO:equivalentTo"}
xref: GARD:3030 {source="MONDO:GARD"}
xref: ICD10CM:Q74.1 {source="Orphanet:1509/attributed", source="Orphanet:1509/ntbt", source="Orphanet:1509"}
xref: MEDGEN:333474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535540 {source="MONDO:equivalentTo"}
xref: OMIM:147891 {source="Orphanet:1509/e", source="MONDO:equivalentTo", source="Orphanet:1509"}
xref: Orphanet:1509 {source="OMIM:147891", source="MONDO:equivalentTo"}
xref: SCTID:720752007 {source="MONDO:equivalentTo"}
xref: UMLS:C1840061 {source="MEDGEN:333474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:8898129", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11603 {source="MONDO:mim2gene_medgen"} ! TBX4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007842
name: joint laxity, familial
def: "A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." [https://orcid.org/0000-0001-5208-3432, Orphanet:2295]
subset: gard_rare {source="GARD:3054", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2295"}
subset: orphanet_rare {source="Orphanet:2295"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "articular hypermobility syndrome" RELATED [OMIM:147900]
synonym: "EDS 11 (formerly)" RELATED [GARD:0003054]
synonym: "EDS XI" EXACT [Orphanet:2295]
synonym: "EDS Xi" RELATED [OMIM:147900]
synonym: "EDS Xi, formerly" RELATED [OMIM:147900]
synonym: "EDS11" RELATED ABBREVIATION [OMIM:147900]
synonym: "EDS11, formerly" RELATED [OMIM:147900]
synonym: "Ehlers-Danlos syndrome type 11, formerly" EXACT [OMIM:147900]
synonym: "Ehlers-Danlos syndrome, type 11 (formerly)" RELATED [GARD:0003054]
synonym: "Ehlers-Danlos syndrome, type Xi" RELATED [OMIM:147900]
synonym: "Ehlers-Danlos syndrome, type Xi, formerly" RELATED [OMIM:147900]
synonym: "familial joint instability syndrome" EXACT [OMIM:147900, Orphanet:2295]
synonym: "familial joint laxity" EXACT [Orphanet:2295]
synonym: "Joint instability syndrome" EXACT [Orphanet:2295]
synonym: "joint laxity, familial" EXACT [OMIM:147900]
xref: GARD:3054 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:2295/attributed", source="Orphanet:2295/ntbt", source="Orphanet:2295"}
xref: MEDGEN:120629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535884 {source="MONDO:equivalentTo"}
xref: OMIM:147900 {source="Orphanet:2295/e", source="MONDO:equivalentTo", source="Orphanet:2295"}
xref: Orphanet:2295 {source="MONDO:equivalentTo", source="OMIM:147900"}
xref: SCTID:71322004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268349 {source="MEDGEN:120629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020066 {source="Orphanet:2295"} ! Ehlers-Danlos syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5634" xsd:anyURI

[Term]
id: MONDO:0007843
name: Kabuki syndrome 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KABUK1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147920]
synonym: "Kabuki make-Up syndrome" RELATED [OMIM:147920]
synonym: "Kabuki syndrome" RELATED [OMIM:147920]
synonym: "KABUKI syndrome 1" RELATED [OMIM:147920]
synonym: "Kabuki syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:147920]
synonym: "Kabuki syndrome type 1" EXACT [MONDORULE:1, OMIM:147920]
synonym: "Niikawa-Kuroki syndrome" RELATED [OMIM:147920]
xref: OMIM:147920 {source="MONDO:equivalentTo"}
xref: Orphanet:2322 {source="OMIM:147920"}
is_a: MONDO:0016512 {source="DC-OMIM:147920", source="OMIM:147920"} ! Kabuki syndrome

[Term]
id: MONDO:0007844
name: hypogonadotropic hypogonadism 2 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:3070", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FGFR1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147950]
synonym: "hypogonadotropic hypogonadism 2 with or without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:147950]
synonym: "hypogonadotropic hypogonadism caused by mutation in FGFR1" EXACT [MONDO:design_pattern]
synonym: "KAL2" RELATED ABBREVIATION [GARD:0003070]
synonym: "Kallmann syndrome 2" RELATED [OMIM:147950]
xref: DOID:0090083 {source="MONDO:equivalentTo"}
xref: GARD:3070 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090083"}
xref: MEDGEN:289648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:147950 {source="MONDO:equivalentTo", source="DOID:0090083"}
xref: UMLS:C1563720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:289648"}
is_a: MONDO:0018555 {source="DOID:0090083", source="MONDO:0007844/inferred", source="MONDO:Redundant", source="OMIM:147950"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 ! FGFR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1

[Term]
id: MONDO:0007845
name: Kaposi sarcoma, susceptibility to
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "Kaposi sarcoma, susceptibility to" EXACT [OMIM:148000]
synonym: "multicentric Castleman disease, susceptibility to" RELATED [OMIM:148000]
synonym: "multiple idiopathic pigmented hemangiosarcoma, susceptibility to" RELATED [OMIM:148000]
synonym: "susceptibility to Kaposi sarcoma" RELATED [OMIM:148000]
xref: MEDGEN:761233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:148000 {source="MONDO:equivalentTo"}
xref: Orphanet:160 {source="MONDO:relatedTo", source="OMIM:148000"}
xref: Orphanet:33276 {source="OMIM:148000"}
xref: UMLS:C3538945 {source="MEDGEN:761233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005055 ! Kaposi's sarcoma

[Term]
id: MONDO:0007846
name: KBG syndrome
def: "KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." [Orphanet:2332]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:82", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1322"}
subset: ordo_disorder {source="Orphanet:2332"}
subset: ordo_malformation_syndrome {source="Orphanet:2332"}
subset: orphanet_rare {source="Orphanet:2332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KBG syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:148050]
synonym: "KBGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148050]
synonym: "macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies" RELATED [OMIM:148050]
synonym: "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies" RELATED DEPRECATED [OMIM:148050]
synonym: "short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies" RELATED [GARD:0000082]
synonym: "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" RELATED DEPRECATED [GARD:0000082]
synonym: "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome" EXACT [Orphanet:2332]
xref: DOID:14780 {source="MONDO:equivalentTo"}
xref: GARD:82 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2332/attributed", source="Orphanet:2332/ntbt", source="Orphanet:2332"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537015 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e"}
xref: NORD:1322 {source="MONDO:NORD"}
xref: OMIM:148050 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e"}
xref: Orphanet:2332 {source="DOID:14780", source="MONDO:equivalentTo", source="OMIM:148050"}
xref: SCTID:711156009 {source="DOID:14780", source="MONDO:equivalentTo"}
xref: UMLS:C0220687 {source="MEDGEN:66317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2332", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:2332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: disease_has_feature HP:0001249 ! Intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21316 {source="MONDO:mim2gene_medgen"} ! ANKRD11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome" xsd:anyURI {source="GARD:0000082"}

[Term]
id: MONDO:0007847
name: keloid formation
synonym: "keloid formation" EXACT [OMIM:148100]
xref: MEDGEN:460844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:148100 {source="MONDO:equivalentTo"}
xref: UMLS:C3149494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:460844"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007848
name: autosomal dominant keratitis
def: "Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia." [Orphanet:2334]
subset: gard_rare {source="GARD:3089", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2334"}
subset: orphanet_rare {source="Orphanet:2334"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dominantly inherited keratitis" RELATED [GARD:0003089]
synonym: "hereditary keratitis" EXACT [Orphanet:2334]
synonym: "keratitis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "keratitis, hereditary" RELATED [OMIM:148190]
xref: DOID:0111383 {source="MONDO:equivalentTo"}
xref: GARD:3089 {source="MONDO:GARD"}
xref: ICD10CM:H16.8 {source="Orphanet:2334/attributed", source="Orphanet:2334/ntbt", source="Orphanet:2334"}
xref: MEDGEN:332039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537022 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"}
xref: OMIM:148190 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"}
xref: Orphanet:2334 {source="MONDO:equivalentTo", source="OMIM:148190"}
xref: SCTID:715339004 {source="MONDO:equivalentTo"}
xref: UMLS:C1835698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332039"}
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0003085 {source="MESH:C537022", source="MONDO:Redundant"} ! keratitis
is_a: MONDO:0018102 {source="Orphanet:2334"} ! corneal dystrophy
intersection_of: MONDO:0003085 ! keratitis
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:148190", source="Orphanet:2334"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6

[Term]
id: MONDO:0007849
name: keratitis fugax hereditaria
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647815"}
subset: orphanet_rare {source="Orphanet:647815"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KEFH" RELATED ABBREVIATION [OMIM:148200]
synonym: "keratitis fugax hereditaria" EXACT [OMIM:148200]
synonym: "KERATOENDOTHELIITIS fugax hereditaria" RELATED [OMIM:148200]
synonym: "Keratoendotheliitis fugax hereditaria" RELATED [OMIM:148200]
synonym: "keratoendotheliitis fugax hereditaria" EXACT [Orphanet:647815]
synonym: "keratoendothelitis fugax hereditaria" EXACT [OMIM:148200, OMIM:genemap2]
xref: MEDGEN:372107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563650 {source="MONDO:equivalentTo"}
xref: OMIM:148200 {source="MONDO:equivalentTo"}
xref: Orphanet:647815 {source="MONDO:equivalentTo"}
xref: UMLS:C1835697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372107"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007850
name: autosomal dominant keratitis-ichthyosis-hearing loss syndrome
def: "Autosomal dominant form of KID syndrome." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant keratitis-ichthyosis-deafness syndrome" NARROW [DOID:0060871]
synonym: "autosomal dominant KID syndrome" EXACT [DOID:0060871]
synonym: "keratitis-ichthyosis -deafness syndrome" EXACT [OMIM:148210, OMIM:genemap2]
synonym: "keratitis-ichthyosis-deafness syndrome, autosomal dominant" NARROW [OMIM:148210]
synonym: "KID syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:148210]
xref: DOID:0060871 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q80.8 {source="DOID:0060871"}
xref: MEDGEN:120536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:148210 {source="DOID:0060871", source="MONDO:equivalentTo"}
xref: Orphanet:477 {source="DOID:0060871", source="OMIM:148210"}
xref: UMLS:C0265336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120536"}
intersection_of: MONDO:0018781 ! KID syndrome
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0007851
name: keratoconus 1
def: "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus (disease) caused by mutation in VSX1" EXACT []
synonym: "keratoconus 1" EXACT [MONDO:Lexical, OMIM:148300]
synonym: "keratoconus type 1" EXACT [MONDORULE:1, OMIM:148300]
synonym: "KTCN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148300]
synonym: "VSX1 keratoconus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:372103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563649 {source="MONDO:equivalentTo"}
xref: OMIM:148300 {source="MONDO:equivalentTo"}
xref: Orphanet:2335 {source="OMIM:148300"}
xref: UMLS:C1835677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372103"}
is_a: MONDO:0015486 {source="DC-OMIM:148300", source="MESH:C563649", source="MONDO:Redundant", source="OMIM:148300"} ! keratoconus
intersection_of: MONDO:0015486 ! keratoconus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12723 ! VSX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12723 {source="MONDO:mim2gene_medgen"} ! VSX1

[Term]
id: MONDO:0007852
name: palmoplantar keratoderma-deafness syndrome
def: "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." [Orphanet:2202]
subset: gard_rare {source="GARD:3094", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2202"}
subset: orphanet_rare {source="Orphanet:2202"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse palmoplantar keratoderma with deafness (subtype)" RELATED [GARD:0003094]
synonym: "focal palmoplantar keratoderma with sensorineural deafness (subtype)" RELATED [GARD:0003094]
synonym: "hereditary palmoplantar keratoderma with deafness (subtype)" RELATED [GARD:0003094]
synonym: "keratoderma palmoplantar deafness" RELATED [GARD:0003094]
synonym: "keratoderma palmoplantar, with deafness" RELATED [GARD:0003094]
synonym: "keratoderma, palmoplantar, with deafness" RELATED [OMIM:148350]
synonym: "palmoplantar hyperkeratosis-deafness syndrome" EXACT [Orphanet:2202]
synonym: "palmoplantar hyperkeratosis-hearing loss syndrome" EXACT [Orphanet:2202]
synonym: "palmoplantar keratoderma and sensorineural deafness" RELATED [GARD:0003094]
synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [Orphanet:2202]
synonym: "PPK-deafness syndrome" EXACT [Orphanet:2202]
xref: DOID:0111505 {source="MONDO:equivalentTo"}
xref: GARD:3094 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2202/attributed", source="Orphanet:2202/ntbt", source="Orphanet:2202"}
xref: MEDGEN:332030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536152 {source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"}
xref: OMIM:148350 {source="Orphanet:2202", source="MONDO:equivalentTo", source="Orphanet:2202/e"}
xref: Orphanet:2202 {source="OMIM:148350", source="MONDO:equivalentTo"}
xref: UMLS:C1835672 {source="MEDGEN:332030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2

[Term]
id: MONDO:0007853
name: palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
subset: gard_rare {source="GARD:17977", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:538574"}
subset: orphanet_rare {source="Orphanet:538574"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "axonal neuropathy with palmoplantar keratoderma" RELATED [OMIM:148360]
synonym: "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy" RELATED [OMIM:148360]
synonym: "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy" EXACT [OMIM:148360]
xref: GARD:17977 {source="MONDO:GARD"}
xref: MEDGEN:322722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536153 {source="MONDO:equivalentTo"}
xref: OMIM:148360 {source="MONDO:equivalentTo", source="Orphanet:538574"}
xref: Orphanet:2201 {source="OMIM:148360"}
xref: Orphanet:538574 {source="MONDO:equivalentTo"}
xref: UMLS:C1835671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322722"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="MESH:C536153/inferred"} ! hereditary disease
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0007854
name: keratolytic winter erythema
def: "Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission." [Orphanet:50943]
subset: gard_rare {source="GARD:8275", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1286"}
subset: ordo_disorder {source="Orphanet:50943"}
subset: orphanet_rare {source="Orphanet:50943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Erythrokeratolysis hiemalis" EXACT [Orphanet:50943]
synonym: "Erythrokeratolysis hiemalis ichthyosis" RELATED [GARD:0008275]
synonym: "keratolytic WINTER erythema" RELATED [OMIM:148370]
synonym: "keratolytic winter erythema" EXACT [MONDO:Lexical, OMIM:148370]
synonym: "KWE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148370]
synonym: "Oudtshoorn disease" EXACT [Orphanet:50943]
synonym: "Oudtshoorn skin" RELATED [GARD:0008275]
synonym: "Oudtshoorn skin disease" RELATED [OMIM:148370]
xref: GARD:8275 {source="MONDO:GARD"}
xref: ICD9:695.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536155 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"}
xref: NORD:1286 {source="MONDO:NORD"}
xref: OMIM:148370 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"}
xref: Orphanet:50943 {source="MONDO:equivalentTo", source="OMIM:148370"}
xref: SCTID:239064000 {source="MONDO:equivalentTo"}
xref: UMLS:C0406756 {source="MEDGEN:98359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema" xsd:anyURI {source="GARD:0008275"}

[Term]
id: MONDO:0007855
name: keratosis, familial actinic
synonym: "keratosis, familial actinic" EXACT [OMIM:148390]
xref: MEDGEN:390709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567190 {source="MONDO:equivalentTo"}
xref: OMIM:148390 {source="MONDO:equivalentTo"}
xref: UMLS:C2675099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390709"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007856
name: palmoplantar keratoderma-esophageal carcinoma syndrome
def: "An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern." [GARD:0003102, https://orcid.org/0000-0001-5208-3432]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2198"}
subset: orphanet_rare {source="Orphanet:2198"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bennion-Patterson syndrome" EXACT [Orphanet:2198]
synonym: "howel-Evans syndrome" RELATED [GARD:0003102]
synonym: "Howell-Evans syndrome" EXACT [Orphanet:2198]
synonym: "keratosis palmaris Et plantaris with esophageal cancer" RELATED [OMIM:148500]
synonym: "keratosis palmaris et plantaris with esophageal cancer" RELATED [GARD:0003102]
synonym: "keratosis palmoplantaris with esophageal cancer" RELATED [GARD:0003102]
synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT [Orphanet:2198]
synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198]
synonym: "palmoplantar keratoderma with esophageal cancer" RELATED [OMIM:148500]
synonym: "palmoplantar keratoderma-esophageal carcinoma syndrome" EXACT CLINGEN_LABEL [GARD:0003102]
synonym: "Toc" RELATED [GARD:0003102, MONDO:Lexical, OMIM:148500]
synonym: "tylosis - oesophageal carcinoma" RELATED [GARD:0003102]
synonym: "tylosis with esophageal cancer" RELATED [MONDO:Lexical, OMIM:148500]
synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198]
xref: DOID:0111506 {source="MONDO:equivalentTo"}
xref: GARD:3102 {source="MONDO:GARD"}
xref: MEDGEN:324338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536164 {source="MONDO:equivalentTo"}
xref: OMIM:148500 {source="GARD:0003102", source="Orphanet:2198", source="MONDO:equivalentTo", source="Orphanet:2198/e"}
xref: Orphanet:2198 {source="GARD:0003102", source="MONDO:equivalentTo", source="OMIM:148500"}
xref: SCTID:111030006 {source="MONDO:equivalentTo"}
xref: UMLS:C1835664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324338"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-3458-4839"} ! syndromic disease
is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20788 {source="MONDO:mim2gene_medgen"} ! RHBDF2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer" xsd:anyURI {source="GARD:0003102"}

[Term]
id: MONDO:0007857
name: keratosis palmaris et plantaris-clinodactyly syndrome
def: "Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." [Orphanet:86919]
subset: gard_rare {source="GARD:16766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86919"}
subset: orphanet_rare {source="Orphanet:86919"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratosis palmaris ET plantaris with clinodactyly" RELATED [OMIM:148520]
synonym: "palmoplantar keratoderma-clinodactyly syndrome" EXACT [Orphanet:86919]
xref: GARD:16766 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:86919/attributed", source="Orphanet:86919/ntbt", source="Orphanet:86919"}
xref: MEDGEN:320656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563646 {source="MONDO:equivalentTo"}
xref: OMIM:148520 {source="Orphanet:86919/e", source="MONDO:equivalentTo", source="Orphanet:86919"}
xref: Orphanet:86919 {source="OMIM:148520", source="MONDO:equivalentTo"}
xref: UMLS:C1835663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320656"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma

[Term]
id: MONDO:0007858
name: palmoplantar keratoderma, punctate type 1A
def: "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15081", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAGAB punctate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "keratoderma, palmoplantar, punctate type IA" EXACT [OMIM:148600, OMIM:genemap2]
synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" RELATED [OMIM:148600]
synonym: "keratosis palmoplantaris papulosa" RELATED [OMIM:148600]
synonym: "Kppp1" RELATED [OMIM:148600]
synonym: "palmoplantar keratoderma, punctate type 1" RELATED [OMIM:148600]
synonym: "palmoplantar keratoderma, punctate type 1A" EXACT CLINGEN_LABEL []
synonym: "palmoplantar keratoderma, punctate type IA" RELATED [MONDO:Lexical, OMIM:148600]
synonym: "PPKP1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148600]
synonym: "punctate palmoplantar keratoderma caused by mutation in AAGAB" EXACT [MONDO:design_pattern]
synonym: "punctate palmoplantar keratoderma type 1A" RELATED [DOID:0080214]
xref: DOID:0080214 {source="MONDO:equivalentTo"}
xref: GARD:15081 {source="MONDO:GARD"}
xref: OMIM:148600 {source="MONDO:equivalentTo", source="DOID:0080214"}
xref: Orphanet:79501 {source="OMIM:148600"}
is_a: MONDO:0017675 {source="DOID:0080214", source="MONDO:indirect"} ! punctate palmoplantar keratoderma
is_a: MONDO:0019332 {source="Orphanet:79501/btnt"} ! punctate palmoplantar keratoderma type 1
intersection_of: MONDO:0017675 ! punctate palmoplantar keratoderma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25662 ! AAGAB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25662 {source="MONDO:mim2gene_medgen"} ! AAGAB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007859
name: palmoplantar keratoderma i, striate, focal, or diffuse
subset: gard_rare {source="GARD:9172", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratoderma, palmoplantar striate form 1" RELATED [GARD:0009172]
synonym: "keratoderma, palmoplantar, striate form 1" RELATED [OMIM:148700]
synonym: "keratosis palmoplantaris striata 1" RELATED [OMIM:148700]
synonym: "keratosis palmoplantaris striata i, AD" EXACT [OMIM:148700, OMIM:genemap2]
synonym: "palmoplantar keratoderma I, striate, focal, or diffuse" RELATED [OMIM:148700]
synonym: "palmoplantar keratoderma i, striate, focal, or diffuse" EXACT [MONDO:Lexical, OMIM:148700]
synonym: "PPKS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148700]
synonym: "SPPK1" RELATED ABBREVIATION [GARD:0009172]
synonym: "striate palmoplantar keratoderma 1" RELATED [OMIM:148700]
xref: DOID:0081108 {source="MONDO:equivalentTo"}
xref: GARD:9172 {source="MONDO:GARD"}
xref: MEDGEN:419717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536162 {source="MONDO:equivalentTo"}
xref: OMIM:148700 {source="MONDO:equivalentTo"}
xref: Orphanet:369999 {source="MONDO:relatedTo", source="OMIM:148700"}
xref: Orphanet:370002 {source="MONDO:relatedTo", source="OMIM:148700"}
xref: Orphanet:50942 {source="OMIM:148700"}
xref: UMLS:C2931122 {source="MONDO:equivalentTo", source="MEDGEN:419717", source="MONDO:MEDGEN"}
is_a: MONDO:0019272 {xref="https://orcid.org/0000-0001-5208-3432", xref="https://orcid.org/0000-0001-5493-2602"} ! hereditary palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0018865 {source="DC-OMIM:148700", source="https://orcid.org/0000-0001-5208-3432"} ! striate palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3048 {source="MONDO:mim2gene_medgen"} ! DSG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3108" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007860
name: focal palmoplantar and gingival keratoderma
def: "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement." [Orphanet:2200]
subset: gard_rare {source="GARD:3098", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2200"}
subset: orphanet_rare {source="Orphanet:2200"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "focal palmoplantar and gingival hyperkeratosis" EXACT [Orphanet:2200]
synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" RELATED [OMIM:148730]
synonym: "focal palmoplantar and oral mucosa hyperkeratosis" RELATED [GARD:0003098]
synonym: "keratosis focal palmoplantar gingival" RELATED [GARD:0003098]
synonym: "keratosis, focal palmoplantar and gingival" RELATED [OMIM:148730]
xref: GARD:3098 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2200/attributed", source="Orphanet:2200/ntbt", source="Orphanet:2200"}
xref: MEDGEN:372097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536157 {source="MONDO:equivalentTo"}
xref: OMIM:148730 {source="Orphanet:2200", source="MONDO:equivalentTo", source="Orphanet:2200/e"}
xref: Orphanet:2200 {source="MONDO:equivalentTo", source="OMIM:148730"}
xref: SCTID:764963007 {source="MONDO:equivalentTo"}
xref: UMLS:C1835650 {source="MEDGEN:372097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma" xsd:anyURI {source="GARD:0003098"}

[Term]
id: MONDO:0007861
name: isolated cloverleaf skull syndrome
def: "Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation." [Orphanet:2343]
subset: gard_rare {source="GARD:3115", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_morphological_anomaly {source="Orphanet:2343"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cloverleaf skull" RELATED [OMIM:148800]
synonym: "cloverleaf skull syndrome" RELATED [GARD:0003115, MESH:C536884]
synonym: "isolated cloverleaf skull syndrome" EXACT [GARD:0003115]
synonym: "Kleeblattschadel" RELATED [OMIM:148800]
synonym: "KLEEBLATTSCHAEDEL" RELATED ABBREVIATION [OMIM:148800]
synonym: "Kleeblattschaedel deformity syndrome" RELATED [GARD:0003115]
synonym: "Kleeblattschaedel syndrome" RELATED [GARD:0003115]
synonym: "Kleeblattschaedel-deformity syndrome" RELATED [MESH:C536884]
xref: GARD:3115 {source="MONDO:GARD"}
xref: ICD10CM:Q75.0 {source="Orphanet:2343/attributed", source="Orphanet:2343/ntbt", source="Orphanet:2343"}
xref: MEDGEN:98141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536884 {source="MONDO:equivalentTo"}
xref: OMIM:148800 {source="GARD:0003115", source="Orphanet:2343", source="MONDO:equivalentTo", source="Orphanet:2343/e"}
xref: Orphanet:2343 {source="MONDO:equivalentObsolete", source="OMIM:148800"}
xref: SCTID:254022009 {source="MONDO:equivalentTo"}
xref: UMLS:C0432126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98141"}
is_a: MONDO:0015337 {source="Orphanet:2343"} ! isolated craniosynostosis
is_a: MONDO:0015469 {source="PMID:28623672", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome" xsd:anyURI {source="GARD:0003115"}

[Term]
id: MONDO:0007862
name: Waardenburg syndrome type 3
def: "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin." [Orphanet:896]
subset: gard_rare {source="GARD:5523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:896"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Klein-Waardenburg syndrome" EXACT [DOID:0110949, Orphanet:896]
synonym: "Waardenburg syndrome type III" EXACT [DOID:0110949, Orphanet:896]
synonym: "Waardenburg syndrome with limb anomalies" EXACT [Orphanet:896]
synonym: "Waardenburg syndrome with upper limb anomalies" EXACT [DOID:0110949, OMIM:148820]
synonym: "Waardenburg syndrome, type 3" RELATED [MONDO:Lexical, OMIM:148820]
synonym: "White forelock (poliosis) syndrome with multiple congenital malformations" RELATED [GARD:0005523]
synonym: "WS3" EXACT ABBREVIATION [DOID:0110949, MONDO:Lexical, OMIM:148820, Orphanet:896]
xref: DOID:0110949 {source="MONDO:equivalentTo"}
xref: GARD:5523 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:896", source="MONDO:relatedTo", source="Orphanet:896/attributed", source="Orphanet:896/ntbt", source="DOID:0110949"}
xref: MEDGEN:86948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:148820 {source="Orphanet:896", source="MONDO:equivalentTo", source="Orphanet:896/e", source="DOID:0110949"}
xref: Orphanet:3440 {source="OMIM:148820"}
xref: Orphanet:896 {source="MONDO:equivalentTo", source="DOID:0110949", source="OMIM:148820"}
xref: UMLS:C0079661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:86948"}
is_a: MONDO:0018094 {source="DC-OMIM:148820", source="DOID:0110949", source="OMIM:148820", source="Orphanet:896"} ! Waardenburg syndrome
relationship: has_characteristic HP:0000006 {source="Orphanet:896"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8617 {source="MONDO:mim2gene_medgen"} ! PAX3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3" xsd:anyURI {source="GARD:0005523"}

[Term]
id: MONDO:0007863
name: Kleine-Levin syndrome
def: "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances." [Orphanet:33543]
subset: gard_rare {source="GARD:3117", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1334"}
subset: ordo_disorder {source="Orphanet:33543"}
subset: orphanet_rare {source="Orphanet:33543"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hibernation syndrome" RELATED [GARD:0003117]
synonym: "familial Kleine-Levin syndrome" RELATED [GARD:0003117]
synonym: "Kleine Levin syndrome" RELATED [GARD:0003117]
synonym: "Kleine-LEVIN hibernation syndrome" RELATED [OMIM:148840]
synonym: "Kleine-Levin syndrome" EXACT [OMIM:148840]
xref: DOID:0060165 {source="MONDO:equivalentTo"}
xref: EFO:1001354 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3117 {source="MONDO:GARD"}
xref: ICD10CM:G47.8 {source="Orphanet:33543", source="Orphanet:33543/ntbt"}
xref: icd11.foundation:1180849398 {source="Orphanet:33543", source="MONDO:equivalentTo"}
xref: MedDRA:10053712 {source="Orphanet:33543", source="Orphanet:33543/e"}
xref: MEDGEN:61511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017593 {source="Orphanet:33543", source="MONDO:equivalentTo", source="Orphanet:33543/e"}
xref: NCIT:C84800 {source="MONDO:equivalentTo"}
xref: NORD:1334 {source="MONDO:NORD"}
xref: OMIM:148840 {source="Orphanet:33543", source="MONDO:equivalentTo", source="Orphanet:33543/e"}
xref: Orphanet:33543 {source="MONDO:equivalentTo", source="OMIM:148840"}
xref: SCTID:111488004 {source="MONDO:equivalentTo"}
xref: UMLS:C0206085 {source="MEDGEN:61511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84800"} ! syndromic disease
is_a: MONDO:0003406 {source="DOID:0060165/inferred", source="EFO:1001354/inferred", source="MESH:D017593/inferred", source="MONDO:Redundant", source="NCIT:C84800", source="Orphanet:33543"} ! sleep-wake disorder
is_a: MONDO:0004617 {source="DOID:0060165"} ! recurrent hypersomnia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome" xsd:anyURI {source="GARD:0003117"}

[Term]
id: MONDO:0007864
name: angioosteohypertrophic syndrome
def: "A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." [https://orcid.org/0000-0001-5208-3432, Orphanet:2346]
subset: gard_rare {source="GARD:3122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1337"}
subset: ordo_disorder {source="Orphanet:90308"}
subset: ordo_group_of_disorders {source="Orphanet:2346"}
subset: orphanet_rare {source="Orphanet:90308"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angio-osteohypertrophy syndrome" RELATED [GARD:0003122]
synonym: "angioosteohypertrophy syndrome" EXACT [DOID:2926, OMIM:149000]
synonym: "haemangiectatic hypertrophy" EXACT [DOID:2926]
synonym: "Klippel Trenaunay syndrome" EXACT [GARD:0003122]
synonym: "Klippel-Trenaunay Syndrome" EXACT [NORD:1337]
synonym: "Klippel-Trenaunay syndrome" EXACT [MONDO:0019566, OMIM:149000]
synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [DOID:2926, OMIM:149000, Orphanet:2346]
synonym: "Klippel-Trenaunay-Weber syndrome, Isolated cases" EXACT [OMIM:149000, OMIM:genemap2]
synonym: "Klippel-Trénaunay syndrome" EXACT [Orphanet:90308]
synonym: "Klippel-Trénaunay-Weber syndrome" EXACT []
synonym: "KTS" RELATED ABBREVIATION [GARD:0003122]
synonym: "Ktw syndrome" RELATED [OMIM:149000]
synonym: "Weber-Klippel-Trenaunay" EXACT [GARD:0003122]
xref: DOID:2926 {source="EFO:0007334", source="MONDO:equivalentTo"}
xref: GARD:3122 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2346/attributed", source="Orphanet:2346/ntbt", source="Orphanet:90308", source="Orphanet:2346", source="Orphanet:90308/ntbt", source="Orphanet:90308/inclusion", source="DOID:2926"}
xref: icd11.foundation:1561120378 {source="Orphanet:2346", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10051452 {source="Orphanet:90308", source="Orphanet:90308/e"}
xref: MEDGEN:9646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007715 {source="EFO:0007334", source="MONDO:equivalentTo", source="DOID:2926"}
xref: NANDO:1200884 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201030 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84801 {source="MONDO:equivalentTo", source="DOID:2926"}
xref: NORD:1337 {source="MONDO:NORD"}
xref: OMIM:149000 {source="Orphanet:90308", source="Orphanet:2346", source="Orphanet:90308/ntbt", source="MONDO:equivalentTo", source="Orphanet:2346/e", source="DOID:2926"}
xref: Orphanet:2346 {source="OMIM:149000", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:90308 {source="OMIM:149000", source="MONDO:equivalentTo"}
xref: SCTID:59078009 {source="DOID:2926"}
xref: SCTID:721105004 {source="MONDO:equivalentTo"}
xref: UMLS:C0022739 {source="MEDGEN:9646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:2346"} ! disease
is_a: MONDO:0002254 {source="DOID:2926", source="NCIT:C84801", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
is_a: MONDO:0019716 {source="Orphanet:2346"} ! overgrowth syndrome
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0019293 {source="Orphanet:2346", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome" xsd:anyURI {source="GARD:0003122"}

[Term]
id: MONDO:0007865
name: knuckle pads
synonym: "knuckle pads" EXACT [OMIM:149100]
xref: ICD10CM:M72.1 {source="MONDO:equivalentTo"}
xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:149100 {source="MONDO:equivalentTo"}
xref: SCTID:16687001 {source="MONDO:equivalentTo"}
xref: UMLS:C0264000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78103"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007866
name: Bart-Pumphrey syndrome
subset: gard_rare {source="GARD:3125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2698"}
subset: orphanet_rare {source="Orphanet:2698"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bart-Pumphrey syndrome" EXACT [OMIM:149200, Orphanet:2698]
synonym: "knuckle pads, leuconychia and sensorineural deafness" RELATED [GARD:0003125]
synonym: "knuckle pads, leukonychia, and sensorineural deafness" EXACT [DOID:0050658, OMIM:149200]
synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" RELATED [Orphanet:2698]
synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome" EXACT [Orphanet:2698]
xref: DOID:0050658 {source="MONDO:equivalentTo"}
xref: GARD:3125 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2698/attributed", source="Orphanet:2698/ntbt", source="Orphanet:2698"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537210 {source="MONDO:equivalentTo"}
xref: OMIM:149200 {source="Orphanet:2698", source="MONDO:equivalentTo", source="DOID:0050658", source="Orphanet:2698/e"}
xref: Orphanet:2698 {source="OMIM:149200", source="MONDO:equivalentTo"}
xref: SCTID:1271009 {source="MONDO:equivalentTo"}
xref: UMLS:C0266004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82727"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2

[Term]
id: MONDO:0007867
name: nonsyndromic congenital nail disorder 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital koilonychia" RELATED [GARD:0009760]
synonym: "familial koilonychia" RELATED [GARD:0009760]
synonym: "hereditary koilonychia" RELATED [GARD:0009760]
synonym: "Koilonychia with leukonychia" RELATED [OMIM:149300]
synonym: "Koilonychia, hereditary" RELATED [OMIM:149300]
synonym: "nail disorder, nonsyndromic congenital, 2" RELATED [MONDO:Lexical, OMIM:149300]
synonym: "NDNC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:149300]
synonym: "nonsyndromic congenital nail disorder type 2" EXACT [DOID:0080080, MONDORULE:1]
synonym: "spoon nails" RELATED [OMIM:149300]
xref: DOID:0080080 {source="MONDO:equivalentTo"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537260 {source="MONDO:equivalentTo"}
xref: OMIM:149300 {source="MONDO:equivalentTo", source="DOID:0080080"}
xref: SCTID:66270006 {source="MONDO:equivalentTo"}
xref: UMLS:C0266000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75593"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0019284 {source="DC-OMIM:149300", source="OMIM:149300"} ! inherited isolated nail anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007868
name: hyperekplexia 1
def: "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32." [DOID:0060696, PMID:7881416, PMID:8298642]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "exaggerated startle reaction" RELATED [OMIM:149400]
synonym: "HKPX1" EXACT ABBREVIATION [DOID:0060696, MONDO:Lexical, OMIM:149400]
synonym: "hyperekplexia 1" EXACT [OMIM:149400]
synonym: "hyperekplexia type 1" EXACT [DOID:0060696, MONDORULE:1]
synonym: "hyperekplexia, hereditary 1" RELATED [MONDO:Lexical, OMIM:149400]
synonym: "hyperekplexia, hereditary type 1" EXACT [MONDORULE:1, OMIM:149400]
synonym: "Kok disease" RELATED [OMIM:149400]
synonym: "startle disease, familial" RELATED [OMIM:149400]
synonym: "startle reaction, exaggerated" RELATED [OMIM:149400]
synonym: "Sthe" RELATED [OMIM:149400]
synonym: "Stiff-baby syndrome" RELATED [OMIM:149400]
synonym: "Stiff-Man syndrome, congenital" RELATED [OMIM:149400]
synonym: "Stiff-Person syndrome, congenital" RELATED [OMIM:149400]
xref: DOID:0060696 {source="MONDO:equivalentTo"}
xref: ICD10CM:G25.8 {source="DOID:0060696"}
xref: MEDGEN:1647581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000071017 {source="DOID:0060696"}
xref: OMIM:149400 {source="DOID:0060696", source="MONDO:equivalentTo"}
xref: Orphanet:3197 {source="OMIM:149400", source="DOID:0060696"}
xref: UMLS:C4551954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647581"}
is_a: MONDO:0021022 {source="DOID:0060696", source="OMIM:149400"} ! hereditary hyperekplexia

[Term]
id: MONDO:0007869
name: Kyrle disease
def: "Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop." [https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease]
synonym: "hyperkeratosis follicularis et parafollicularis in cutem penetrans" RELATED [GARD:0009738]
synonym: "Kyrle disease" EXACT [OMIM:149500]
synonym: "Kyrle's disease" RELATED [GARD:0009738]
xref: MEDGEN:75516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538130 {source="MONDO:equivalentTo"}
xref: OMIM:149500 {source="MONDO:equivalentTo"}
xref: SCTID:34042008 {source="MONDO:equivalentTo"}
xref: UMLS:C0263382 {source="MEDGEN:75516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C538130/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease" xsd:anyURI {source="GARD:0009738"}

[Term]
id: MONDO:0007870
name: labia minora, incomplete adhesion of
synonym: "labia minora, incomplete adhesion of" EXACT [OMIM:149600]
xref: MEDGEN:372090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:149600 {source="MONDO:equivalentTo"}
xref: UMLS:C1835613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372090"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007871
name: familial congenital nasolacrimal duct obstruction
subset: gard_rare {source="GARD:17784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:451612"}
subset: ordo_morphological_anomaly {source="Orphanet:451612"}
subset: orphanet_rare {source="Orphanet:451612"}
subset: rare
synonym: "lacrimal duct defect" RELATED [MONDO:Lexical, OMIM:149700]
synonym: "lacrimal puncta, absence of" RELATED [OMIM:149700]
synonym: "LCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:149700]
synonym: "nasolacrimal duct obstruction" RELATED [OMIM:149700]
xref: GARD:17784 {source="MONDO:GARD"}
xref: ICD10CM:Q10.5 {source="Orphanet:451612", source="Orphanet:451612/index", source="Orphanet:451612/ntbt"}
xref: MEDGEN:332018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566703 {source="MONDO:equivalentTo"}
xref: OMIM:149700 {source="MONDO:equivalentTo", source="Orphanet:451612", source="Orphanet:451612/e"}
xref: Orphanet:141083 {source="OMIM:149700", source="MONDO:directSiblingOf"}
xref: Orphanet:451612 {source="MONDO:equivalentTo"}
xref: UMLS:C1835612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332018"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5950 {source="MONDO:mim2gene_medgen"} ! IGSF3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0007872
name: LADD syndrome
def: "A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." [https://orcid.org/0000-0001-5208-3432, Orphanet:2363]
subset: gard_rare {source="GARD:6848", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1345"}
subset: ordo_disorder {source="Orphanet:2363"}
subset: ordo_malformation_syndrome {source="Orphanet:2363"}
subset: orphanet_rare {source="Orphanet:2363"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lacrimo-auriculo-dento-digital syndrome" EXACT [GARD:0006848]
synonym: "Lacrimoauriculodento-digital syndrome" EXACT [GARD:0006848]
synonym: "LACRIMOAURICULODENTODIGITAL syndrome" EXACT [OMIMPS:149730]
synonym: "lacrimoauriculodentodigital syndrome" EXACT [DOID:0050331, MONDO:Lexical, OMIMPS:149730]
synonym: "Lacrimoauriculoradiodental syndrome" EXACT [Orphanet:2363]
synonym: "LADD" RELATED ABBREVIATION [MONDO:Lexical]
synonym: "LADD syndrome" EXACT [Orphanet:2363]
synonym: "lard syndrome" EXACT [Orphanet:2363]
synonym: "Levy Hollister syndrome" EXACT [GARD:0006848]
synonym: "Levy-Hollister syndrome" EXACT [DOID:0050331, Orphanet:2363]
xref: DOID:0050331 {source="MONDO:equivalentTo"}
xref: DOID:0081370 {source="MONDO:equivalentTo"}
xref: GARD:6848 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2363", source="Orphanet:2363/attributed", source="Orphanet:2363/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538132 {source="MONDO:equivalentTo"}
xref: NORD:1345 {source="MONDO:NORD"}
xref: OMIMPS:149730 {source="MONDO:equivalentTo"}
xref: Orphanet:2363 {source="OMIM:149730", source="MONDO:equivalentTo"}
xref: SCTID:23817003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78545"}
is_a: MONDO:0000426 {source="DOID:0050331", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015161 {source="Orphanet:2363"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: excluded_subClassOf MONDO:0015503 {source="Orphanet:2363", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nose and cavum anomaly
relationship: excluded_subClassOf MONDO:0018562 {source="Orphanet:2363", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary otorhinolaryngological malformation
relationship: excluded_subClassOf MONDO:0020197 {source="Orphanet:2363", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete EEC syndrome and related syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:149730", source="Orphanet:2363"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:149730"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007873
name: lactic acidosis, chronic adult form
synonym: "lactic acidosis, chronic adult form" EXACT [OMIM:150170]
xref: MEDGEN:320642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563640 {source="MONDO:equivalentTo"}
xref: OMIM:150170 {source="MONDO:equivalentTo"}
xref: UMLS:C1835591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320642"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007874
name: trichorhinophalangeal syndrome type II
def: "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." [Orphanet:502]
subset: gard_rare {source="GARD:7801", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1788"}
subset: ordo_disorder {source="Orphanet:502"}
subset: ordo_malformation_syndrome {source="Orphanet:502"}
subset: orphanet_rare {source="Orphanet:502"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 8Q24.1 deletion syndrome" RELATED [OMIM:150230]
synonym: "deletion 8q24.1" EXACT [Orphanet:502]
synonym: "Giedion-Langer syndrome" RELATED [GARD:0007801]
synonym: "Langer Giedion syndrome" RELATED [GARD:0007801]
synonym: "Langer-Giedion syndrome" EXACT [DOID:4998, OMIM:150230]
synonym: "monosomy 8q24.1" EXACT [Orphanet:502]
synonym: "trichorhinophalangeal dysplasia type II" EXACT [DOID:4998]
synonym: "trichorhinophalangeal syndrome type 2" EXACT [Orphanet:502]
synonym: "trichorhinophalangeal syndrome, type 2" RELATED [OMIM:150230]
synonym: "trichorhinophalangeal syndrome, type II" RELATED [MONDO:Lexical, OMIM:150230]
synonym: "TRPS 2" RELATED [GARD:0007801]
synonym: "TRPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150230]
xref: DOID:4998 {source="MONDO:equivalentTo"}
xref: GARD:7801 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:502", source="Orphanet:502/attributed", source="Orphanet:502/ntbt"}
xref: icd11.foundation:315453775 {source="Orphanet:502", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10050638 {source="Orphanet:502", source="Orphanet:502/e"}
xref: MEDGEN:6009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536555 {source="Orphanet:502", source="Orphanet:502/e"}
xref: MESH:D015826 {source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo", source="Orphanet:502/e"}
xref: NCIT:C75118 {source="DOID:4998", source="MONDO:equivalentTo"}
xref: NORD:1788 {source="MONDO:NORD"}
xref: OMIM:150230 {source="Orphanet:502", source="DOID:4998", source="MONDO:equivalentTo", source="Orphanet:502/e"}
xref: Orphanet:502 {source="MONDO:equivalentTo", source="OMIM:150230"}
xref: SCTID:239017000 {source="DOID:4998"}
xref: SCTID:41069008 {source="DOID:4998", source="MONDO:equivalentTo"}
xref: UMLS:C0023003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6009"}
is_a: MONDO:0000426 {source="DOID:4998", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75118"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:502"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016907 {source="Orphanet:502"} ! partial deletion of the long arm of chromosome 8
is_a: MONDO:0017951 {source="Orphanet:502"} ! trichorhinophalangeal syndrome
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
relationship: disease_has_feature HP:0000219 ! Thin upper lip vermilion
relationship: disease_has_feature HP:0002209 ! Sparse scalp hair
relationship: disease_has_feature HP:0004322 ! Short stature
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:502", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:150230", source="Orphanet:502"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0007875
name: Larsen syndrome
def: "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." [Orphanet:503]
subset: gard_rare {source="GARD:6860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1349"}
subset: ordo_disorder {source="Orphanet:503"}
subset: ordo_malformation_syndrome {source="Orphanet:503"}
subset: orphanet_rare {source="Orphanet:503"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Larsen syndrome" RELATED [GARD:0006860]
synonym: "dominant Larsen syndrome" EXACT [DOID:14764]
synonym: "Larsen syndrome" EXACT [MONDO:Lexical, OMIM:150250]
synonym: "LRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150250]
xref: DOID:14764 {source="MONDO:equivalentTo"}
xref: GARD:6860 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:503/inclusion", source="Orphanet:503/ntbt", source="Orphanet:503"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:104500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580241 {source="MONDO:equivalentTo"}
xref: NANDO:2201019 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1349 {source="MONDO:NORD"}
xref: OMIM:150250 {source="Orphanet:503", source="MONDO:equivalentTo", source="Orphanet:503/e", source="DOID:14764"}
xref: Orphanet:503 {source="MONDO:equivalentTo", source="OMIM:150250"}
xref: SCTID:63387002 {source="MONDO:equivalentTo"}
xref: UMLS:C0175778 {source="MEDGEN:104500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:14764", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0019690 {source="Orphanet:503", source="PMID:31633310"} ! filamin-related bone disorder
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: disease_has_feature HP:0001373 ! Joint dislocation
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:503", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:150250", source="Orphanet:503"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome" xsd:anyURI {source="GARD:0006860"}

[Term]
id: MONDO:0007876
name: laryngeal abductor paralysis
comment: Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. {source="OMIM:150260"}
subset: gard_rare {source="GARD:5509", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2808"}
subset: ordo_malformation_syndrome {source="Orphanet:2808"}
subset: orphanet_rare {source="Orphanet:2808"}
subset: rare
synonym: "familial vocal cord dysfunction" EXACT [Orphanet:2808]
synonym: "Gerhardt syndrome" EXACT [OMIM:150260, Orphanet:2808]
synonym: "Labd" RELATED [OMIM:150260]
synonym: "laryngeal abductor paralysis" EXACT [OMIM:150260]
synonym: "vocal cord dysfunction familial" RELATED [GARD:0005509]
synonym: "vocal cord dysfunction, familial" RELATED [OMIM:150260]
xref: GARD:5509 {source="MONDO:GARD"}
xref: ICD10CM:J38.0 {source="Orphanet:2808", source="Orphanet:2808/attributed", source="Orphanet:2808/ntbt"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:150260 {source="Orphanet:2808", source="MONDO:equivalentTo", source="Orphanet:2808/e"}
xref: Orphanet:2808 {source="MONDO:equivalentTo", source="OMIM:150260"}
xref: SCTID:232442001 {source="MONDO:equivalentTo"}
xref: UMLS:C0396059 {source="MEDGEN:96004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
relationship: excluded_subClassOf MONDO:0010639 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal abductor paralysis-intellectual disability syndrome

[Term]
id: MONDO:0007877
name: laryngeal adductor paralysis
synonym: "LAP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:150270]
synonym: "laryngeal adductor paralysis" EXACT [MONDO:Lexical, OMIM:150270]
synonym: "vocal cord dysfunction, adductor type" RELATED [OMIM:150270]
xref: MEDGEN:140759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562861 {source="MONDO:equivalentTo"}
xref: OMIM:150270 {source="MONDO:equivalentTo"}
xref: UMLS:C0396060 {source="MEDGEN:140759", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007878
name: congenital laryngomalacia
def: "Increased collapsibility of the larynx." [NCIT:C98971]
subset: gard_rare {source="GARD:6865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2373"}
subset: ordo_malformation_syndrome {source="Orphanet:2373"}
subset: orphanet_rare {source="Orphanet:2373"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital laryngeal stridor" RELATED [GARD:0006865]
synonym: "laryngomalacia" RELATED [OMIM:150280]
synonym: "laryngomalacia congenital" RELATED [GARD:0006865]
xref: DOID:0080833 {source="MONDO:equivalentTo"}
xref: GARD:6865 {source="MONDO:GARD"}
xref: ICD10CM:Q31.5 {source="Orphanet:2373/specific", source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"}
xref: icd11.foundation:64182721 {source="MONDO:equivalentTo", source="Orphanet:2373"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10060786 {source="Orphanet:2373/e", source="Orphanet:2373"}
xref: MEDGEN:120500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055092 {source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"}
xref: NCIT:C98971 {source="MONDO:equivalentTo"}
xref: OMIM:150280 {source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"}
xref: Orphanet:2373 {source="OMIM:150280", source="MONDO:equivalentTo"}
xref: SCTID:253737007 {source="MONDO:equivalentTo"}
xref: UMLS:C0264303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120500"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder

[Term]
id: MONDO:0007879
name: larynx atresia
def: "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." [NCIT:C98972]
subset: gard_rare {source="GARD:3194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1202"}
subset: ordo_malformation_syndrome {source="Orphanet:1202"}
subset: orphanet_rare {source="Orphanet:1202"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital atresia of larynx" EXACT [NCIT:C98972]
synonym: "congenital atresia of the larynx" EXACT [NCIT:C98972]
synonym: "congenital partial atresia of the larynx" RELATED [GARD:0003192]
synonym: "laryngeal atresia" EXACT [NCIT:C98972]
synonym: "larynx, congenital partial atresia OF" RELATED [OMIM:150300]
xref: GARD:3194 {source="MONDO:GARD"}
xref: ICD10CM:Q31.8 {source="Orphanet:1202/ntbt", source="Orphanet:1202/inclusion", source="Orphanet:1202"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563637 {source="MONDO:equivalentTo"}
xref: NANDO:2200190 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98972 {source="MONDO:equivalentTo"}
xref: OMIM:150300 {source="Orphanet:1202", source="MONDO:equivalentTo", source="Orphanet:1202/e"}
xref: Orphanet:1202 {source="MONDO:equivalentTo", source="OMIM:150300"}
xref: SCTID:64981002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78572"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0007880
name: congenital laryngeal web
def: "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [Orphanet:2374]
subset: gard_rare {source="GARD:16596", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2374"}
subset: ordo_malformation_syndrome {source="Orphanet:2374"}
subset: orphanet_rare {source="Orphanet:2374"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gay Feinmesser Cohen syndrome" RELATED [GARD:0002446]
synonym: "glottic web, congenital anterior" RELATED [OMIM:150360]
synonym: "Laryngeal web" EXACT [NCIT:C98970]
synonym: "laryngeal web, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676]
synonym: "laryngeal web, familial" RELATED [OMIM:150360]
synonym: "subglottic Bar" RELATED [OMIM:150360]
synonym: "subglottic bar, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676]
synonym: "subglottic web" RELATED [OMIM:150360]
xref: GARD:16596 {source="MONDO:GARD"}
xref: ICD10CM:Q31.0 {source="Orphanet:2374", source="Orphanet:2374/e", source="Orphanet:2374/specific"}
xref: MedDRA:10023871 {source="Orphanet:2374", source="Orphanet:2374/e"}
xref: MEDGEN:372058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537676 {source="MONDO:equivalentTo"}
xref: MESH:C563636 {source="MONDO:equivalentTo"}
xref: NCIT:C98970 {source="MONDO:equivalentTo"}
xref: OMIM:150360 {source="Orphanet:2374", source="MONDO:equivalentTo", source="Orphanet:2374/e"}
xref: OMIM:185400 {source="GARD:0002446", source="MONDO:obsolete"}
xref: Orphanet:2374 {source="MONDO:equivalentTo", source="OMIM:150360"}
xref: SCTID:444921008 {source="MONDO:equivalentTo"}
xref: UMLS:C1835494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372058"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome" xsd:anyURI {source="GARD:0002446"}

[Term]
id: MONDO:0007881
name: tooth agenesis, selective, 4
def: "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18245", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lateral incisors, absence of" RELATED [OMIM:150400]
synonym: "lateral incisors, pegged or missing" RELATED [OMIM:150400]
synonym: "STHAG4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150400]
synonym: "succedaneous teeth, agenesis of" RELATED [OMIM:150400]
synonym: "tooth agenesis caused by mutation in WNT10A" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 4" EXACT [MONDO:Lexical, OMIM:150400]
synonym: "tooth agenesis, selective, 4, with or without ectodermal dysplasia" RELATED [OMIM:150400]
synonym: "tooth agenesis, selective, type 4" EXACT [MONDORULE:1, OMIM:150400]
synonym: "WNT10A tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18245 {source="MONDO:GARD"}
xref: MEDGEN:372057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563634 {source="MONDO:equivalentTo"}
xref: OMIM:150400 {source="MONDO:equivalentTo"}
xref: Orphanet:2227 {source="OMIM:150400"}
xref: Orphanet:99798 {source="OMIM:150400"}
xref: UMLS:C1835492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372057"}
is_a: MONDO:0003847 {source="OMIM:150400"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:150400", source="MONDO:Redundant", source="OMIM:150400"} ! tooth agenesis
is_a: MONDO:0100358 {source="https://www.clinicalgenome.org/affiliation/40060/"} ! ectodermal dysplasia WNT10A related
intersection_of: MONDO:0005486 ! tooth agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 ! WNT10A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 {source="MONDO:mim2gene_medgen"} ! WNT10A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3293" xsd:anyURI

[Term]
id: MONDO:0007882
name: lattice degeneration of retina leading to retinal detachment
synonym: "lattice degeneration of retina leading to retinal detachment" EXACT [OMIM:150500]
xref: MEDGEN:331989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563633 {source="MONDO:equivalentTo"}
xref: OMIM:150500 {source="MONDO:equivalentTo"}
xref: UMLS:C1835491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331989"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007883
name: periodic fever, immunodeficiency, and thrombocytopenia syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652522"}
subset: orphanet_rare {source="Orphanet:652522"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lazy leukocyte syndrome" EXACT DEPRECATED [OMIM:150550]
xref: ICD9:288.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562721 {source="MONDO:equivalentTo"}
xref: OMIM:150550 {source="MONDO:equivalentTo"}
xref: Orphanet:652522 {source="MONDO:equivalentTo"}
xref: SCTID:71436005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78795"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007884
name: leg ulcers, familial, of juvenile onset
synonym: "leg ulcers, familial, of juvenile onset" EXACT [OMIM:150590]
xref: MEDGEN:322673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563632 {source="MONDO:equivalentTo"}
xref: OMIM:150590 {source="MONDO:equivalentTo"}
xref: UMLS:C1835489 {source="MEDGEN:322673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007885
name: Legg-Calve-Perthes disease
def: "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." [GARD:0006874, Orphanet:2380]
subset: gard_rare {source="GARD:6874", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1353"}
subset: ordo_disorder {source="Orphanet:2380"}
subset: orphanet_rare {source="Orphanet:2380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aseptic necrosis of the capital femoral epiphysis" EXACT [Orphanet:2380]
synonym: "Calve - Perthes' disease" EXACT [DOID:14415]
synonym: "coxa plana" EXACT [DOID:14415]
synonym: "juvenile osteochond-hip/pelvis" EXACT [DOID:14415]
synonym: "juvenile osteochondrosis of hip and pelvis" EXACT [DOID:14415]
synonym: "juvenile osteochondrosis of hip and/or pelvis" EXACT [DOID:14415]
synonym: "Lcp" RELATED [OMIM:150600]
synonym: "LCPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150600]
synonym: "Legg Calvé Perthes Disease" EXACT [NORD:1353]
synonym: "Legg-CALVE-Perthes disease" EXACT [OMIM:150600]
synonym: "Legg-Calve-Perthes disease" EXACT [MONDO:Lexical, OMIM:150600]
synonym: "Legg-Calve-Perthes symptom" EXACT [DOID:14415]
synonym: "Legg-Calve-Perthes syndrome" EXACT [GARD:0006874]
synonym: "Legg-Calvé-Perthes disease" EXACT [Orphanet:2380]
synonym: "Legg-Perthes disease" EXACT [OMIM:150600]
synonym: "osteochondritis deformans" RELATED [GARD:0006874]
synonym: "osteochondritis of the capital femoral epiphysis" EXACT [Orphanet:2380]
synonym: "osteochondrosis of Legg-Calve-Perthes" EXACT [DOID:14415]
synonym: "Osteochondrosis of the capital femoral epiphysis" EXACT [Orphanet:2380]
synonym: "Perthe's disease" EXACT [DOID:14415, SCTID:270545000]
synonym: "Perthes disease" EXACT [DOID:14415, NCIT:C34766, OMIM:150600, Orphanet:2380]
synonym: "Pseudocoxalgia" EXACT [DOID:14415]
synonym: "pseudocoxalgia" EXACT [DOID:14415]
xref: DOID:14415 {source="MONDO:equivalentTo", source="EFO:0007341"}
xref: GARD:6874 {source="MONDO:GARD"}
xref: ICD10CM:M91.1 {source="Orphanet:2380/e", source="Orphanet:2380/specific", source="Orphanet:2380"}
xref: ICD10CM:M91.2 {source="DOID:14415"}
xref: ICD10CM:M91.3 {source="DOID:14415"}
xref: MedDRA:10034735 {source="Orphanet:2380/e", source="Orphanet:2380"}
xref: MEDGEN:6035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007873 {source="DOID:14415", source="MONDO:equivalentTo", source="EFO:0007341"}
xref: NCIT:C34766 {source="DOID:14415", source="MONDO:equivalentTo"}
xref: NORD:1353 {source="MONDO:NORD"}
xref: OMIM:150600 {source="Orphanet:2380/e", source="DOID:14415", source="MONDO:equivalentTo", source="Orphanet:2380"}
xref: Orphanet:2380 {source="OMIM:150600", source="MONDO:equivalentTo"}
xref: SCTID:111255008 {source="DOID:14415"}
xref: SCTID:156817009 {source="DOID:14415"}
xref: SCTID:15739006 {source="DOID:14415", source="MONDO:equivalentTo"}
xref: SCTID:203365001 {source="DOID:14415"}
xref: SCTID:203367009 {source="DOID:14415"}
xref: SCTID:203371007 {source="DOID:14415"}
xref: SCTID:203372000 {source="DOID:14415"}
xref: SCTID:240169001 {source="DOID:14415"}
xref: SCTID:240241003 {source="DOID:14415"}
xref: SCTID:270545000 {source="DOID:14415"}
xref: UMLS:C0023234 {source="MEDGEN:6035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018381 {source="DOID:14415", source="GARD:0006874", source="MONDO:Redundant", source="Orphanet:2380"} ! osteochondrosis
is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy
is_a: MONDO:1030002 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! dysplasia of the proximal femoral epiphyses
relationship: disease_has_feature HP:0010885 ! Avascular necrosis
relationship: disease_has_feature MONDO:0005380 {source="DOID:14415/inferred", source="MESH:D007873/inferred", source="MONDO:Redundant", source="NCIT:C34766", source="Orphanet:2380/inferred"} ! osteonecrosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0019686 {source="Orphanet:2380", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete type 2 collagen-related bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease" xsd:anyURI {source="GARD:0006874"}

[Term]
id: MONDO:0007886
name: uterine corpus leiomyoma
def: "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C3434]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "body of uterus fibroid" EXACT [NCIT:C3434]
synonym: "body of uterus leiomyoma" EXACT [MONDO:patterns/location, NCIT:C3434]
synonym: "corpus uteri fibroid" EXACT [NCIT:C3434]
synonym: "corpus uteri leiomyoma" EXACT [NCIT:C3434]
synonym: "fibroid of body of uterus" EXACT [NCIT:C3434]
synonym: "fibroid of corpus uteri" EXACT [NCIT:C3434]
synonym: "fibroid of the body of uterus" EXACT [NCIT:C3434]
synonym: "fibroid of the corpus uteri" EXACT [NCIT:C3434]
synonym: "fibroid of the uterine body" EXACT [NCIT:C3434]
synonym: "fibroid of the uterine corpus" EXACT [NCIT:C3434]
synonym: "fibroid of uterine body" EXACT [NCIT:C3434]
synonym: "fibroid of uterine corpus" EXACT [NCIT:C3434]
synonym: "leiomyoma of body of uterus" EXACT [NCIT:C3434]
synonym: "leiomyoma of corpus uteri" EXACT [DOID:13223, NCIT:C3434]
synonym: "leiomyoma of the body of uterus" EXACT [NCIT:C3434]
synonym: "leiomyoma of the corpus uteri" EXACT [NCIT:C3434]
synonym: "leiomyoma of the uterine body" EXACT [NCIT:C3434]
synonym: "leiomyoma of the uterine corpus" EXACT [NCIT:C3434]
synonym: "leiomyoma of uterine body" EXACT [NCIT:C3434]
synonym: "leiomyoma of uterine corpus" EXACT [NCIT:C3434]
synonym: "leiomyoma, uterine" RELATED [MONDO:Lexical, OMIM:150699]
synonym: "plexiform leiomyoma" EXACT [DOID:13223]
synonym: "UL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150699]
synonym: "uterine body fibroid" EXACT [NCIT:C3434]
synonym: "uterine body leiomyoma" EXACT [NCIT:C3434]
synonym: "uterine corpus fibroid" EXACT [NCIT:C3434]
synonym: "uterine corpus leiomyoma" EXACT [NCIT:C3434]
synonym: "uterine corpus leiomyomata" EXACT [NCIT:C3434]
synonym: "uterine fibroid" EXACT [NCIT:C3434]
synonym: "uterine leiomyoma" RELATED [DOID:13223, ICD9CM:218]
synonym: "uterus fibroma" RELATED [DOID:13223, MTH:769]
xref: DOID:13223 {source="MONDO:equivalentTo", source="EFO:0000731"}
xref: EFO:0000731 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000131 {source="MONDO:otherHierarchy", source="DOID:13223"}
xref: ICD10CM:D25 {source="DOID:13223"}
xref: ICD10CM:D25.9 {source="DOID:13223"}
xref: ICD9:218 {source="EFO:0000731", source="DOID:13223"}
xref: ICD9:218.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000731", source="DOID:13223"}
xref: MEDGEN:21801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007889 {source="EFO:0000731", source="DOID:13223"}
xref: MESH:D047708 {source="EFO:0000731", source="MONDO:directSiblingOf"}
xref: NCIT:C3157 {source="EFO:0000731"}
xref: NCIT:C3434 {source="MONDO:equivalentTo", source="EFO:0000731", source="DOID:13223"}
xref: NCIT:C7052 {source="EFO:0000731", source="MONDO:directSiblingOf"}
xref: OMIM:150699 {source="MONDO:equivalentTo", source="DOID:13223"}
xref: ONCOTREE:ULM {source="MONDO:equivalentTo"}
xref: SCTID:128917003 {source="EFO:0000731"}
xref: SCTID:146801000119103 {source="DOID:13223"}
xref: SCTID:154616000 {source="DOID:13223"}
xref: SCTID:189106003 {source="DOID:13223"}
xref: SCTID:44598004 {source="EFO:0000731", source="DOID:13223"}
xref: SCTID:702978006 {source="EFO:0000731"}
xref: SCTID:95315005 {source="MONDO:equivalentTo", source="EFO:0000731", source="DOID:13223"}
xref: UMLS:C0042133 {source="MEDGEN:21801", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000632 {source="DOID:13223", source="MONDO:Redundant", source="NCIT:C3434/inferred"} ! uterine benign neoplasm
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C3434"} ! leiomyoma
is_a: MONDO:0002654 {source="DOID:13223/inferred", source="MONDO:Redundant", source="NCIT:C3434/inferred"} ! uterine disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005167 {source="DOID:13223"} ! fibroma
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3434/inferred", source="ONCOTREE:ULM/inferred"} ! tumor of uterus
is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C3434"} ! benign neoplasm of corpus uteri
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: disease_has_location UBERON:0000995 {source="EFO:0000784"} ! uterus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5009 {source="MONDO:mim2gene_medgen"} ! HMGA2

[Term]
id: MONDO:0007887
name: leiomyoma of vulva and esophagus
subset: gard_rare {source="GARD:10097", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "esophagogastric and vulvar leiomyomatosis" RELATED [GARD:0010097]
synonym: "leiomyoma of vulva and esophagus" EXACT [OMIM:150700]
synonym: "leiomyomatosis, esophagogastric and vulvar" RELATED [OMIM:150700]
xref: GARD:10097 {source="MONDO:GARD"}
xref: MEDGEN:320616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537006 {source="MONDO:equivalentTo"}
xref: OMIM:150700 {source="MONDO:equivalentTo"}
xref: Orphanet:1018 {source="OMIM:150700"}
xref: UMLS:C1835488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320616"}
is_a: MONDO:0010641 {source="Orphanet:1018/btnt"} ! X-linked diffuse leiomyomatosis-Alport syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus" xsd:anyURI {source="GARD:0010097"}

[Term]
id: MONDO:0007888
name: hereditary leiomyomatosis and renal cell cancer
def: "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." [Orphanet:523]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1231"}
subset: ordo_disorder {source="Orphanet:523"}
subset: orphanet_rare {source="Orphanet:523"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial leiomyomatosis" EXACT [MONDO:0023616]
synonym: "familial leiomyomatosis and renal cell cancer" EXACT [Orphanet:523]
synonym: "familial leiomyomatosis cutis et uteri" EXACT [Orphanet:523]
synonym: "familial leiomyomatosis with renal carcinoma" EXACT [Orphanet:523]
synonym: "familial multiple cutaneous leiomyomas" EXACT [Orphanet:523]
synonym: "hereditary leiomyomatosis" EXACT [MONDO:patterns/hereditary, Orphanet:523]
synonym: "hereditary leiomyomatosis and renal cell cancer" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:150800]
synonym: "hereditary leiomyomatosis and renal cell cancer syndrome" EXACT [NCIT:C51302]
synonym: "Hereditary Leiomyomatosis and Renal Cell Carcinoma" EXACT [NORD:1231]
synonym: "hereditary leiomyomatosis and renal cell carcinoma" EXACT [NCIT:C51302]
synonym: "hereditary leiomyomatosis with renal carcinoma" EXACT [Orphanet:523]
synonym: "hereditary multiple cutaneous leiomyomas" EXACT [Orphanet:523]
synonym: "HLRCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:150800, Orphanet:523]
synonym: "leiomyoma, multiple cutaneous" RELATED [OMIM:150800]
synonym: "leiomyomatosis and renal cell cancer" EXACT [OMIM:150800, OMIM:genemap2]
synonym: "leiomyomatosis and renal cell cancer, hereditary" RELATED [OMIM:150800]
synonym: "leiomyomatosis familial" RELATED [GARD:0003218]
synonym: "LRCC" RELATED ABBREVIATION [GARD:0010096]
synonym: "MCUL" EXACT ABBREVIATION [Orphanet:523]
synonym: "multiple cutaneous and uterine leiomyomas" EXACT [Orphanet:523]
synonym: "multiple cutaneous and uterine leiomyomata" RELATED [GARD:0010096]
synonym: "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma" RELATED [OMIM:150800]
synonym: "multiple cutaneous leiomyomata" RELATED [GARD:0010096]
synonym: "Reed syndrome" EXACT [Orphanet:523]
synonym: "Reed's syndrome" RELATED [GARD:0010096]
xref: GARD:10096 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:523/attributed", source="Orphanet:523/ntbt", source="Orphanet:523"}
xref: MEDGEN:353771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535516 {source="MONDO:equivalentTo"}
xref: NCIT:C51302 {source="MONDO:equivalentTo"}
xref: NORD:1231 {source="MONDO:NORD"}
xref: OMIM:150800 {source="Orphanet:523", source="MONDO:equivalentTo", source="Orphanet:523/e"}
xref: Orphanet:523 {source="OMIM:150800", source="MONDO:equivalentTo"}
xref: UMLS:C1708350 {source="MEDGEN:353771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:523", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:523", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer" xsd:anyURI {source="GARD:0010096"}

[Term]
id: MONDO:0007889
name: obsolete lentigines
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3692" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021582

[Term]
id: MONDO:0007890
name: lentiginosis, centrofacial neurodysraphic
synonym: "lentiginosis, centrofacial neurodysraphic" EXACT [OMIM:151000]
synonym: "lentiginosis, Touraine type" RELATED [OMIM:151000]
xref: MEDGEN:372055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563630 {source="MONDO:equivalentTo"}
xref: OMIM:151000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835484 {source="MEDGEN:372055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007891
name: familial generalized lentiginosis
def: "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." [Orphanet:231040]
subset: gard_rare {source="GARD:17158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231040"}
subset: orphanet_rare {source="Orphanet:231040"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial lentigines profusa" EXACT [Orphanet:231040]
synonym: "familial multiple lentigines syndrome without systemic involvement" EXACT [Orphanet:231040]
synonym: "lentiginosis profusa" RELATED [OMIM:151001]
synonym: "lentiginosis, diffuse" RELATED [OMIM:151001]
synonym: "lentiginosis, generalised" RELATED OMO:0003005 []
synonym: "lentiginosis, generalized" RELATED [OMIM:151001]
synonym: "lentiginosis, inherited patterned" RELATED [OMIM:151001]
xref: GARD:17158 {source="MONDO:GARD"}
xref: ICD10CM:L81.4 {source="Orphanet:231040/attributed", source="Orphanet:231040/ntbt", source="Orphanet:231040"}
xref: MEDGEN:486897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C573023 {source="MONDO:equivalentTo"}
xref: OMIM:151001 {source="Orphanet:231040/e", source="MONDO:equivalentTo", source="Orphanet:231040"}
xref: Orphanet:231040 {source="MONDO:equivalentTo", source="OMIM:151001"}
xref: SCTID:765195000 {source="MONDO:equivalentTo"}
xref: UMLS:C3492944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:486897"}
is_a: MONDO:0019289 {source="Orphanet:231040"} ! hyperpigmentation of the skin

[Term]
id: MONDO:0007892
name: Lenz-Majewski hyperostotic dwarfism
def: "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." [Orphanet:2658]
subset: gard_rare {source="GARD:3223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2658"}
subset: ordo_malformation_syndrome {source="Orphanet:2658"}
subset: orphanet_rare {source="Orphanet:2658"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperostotic dwarfism Lenz-Majewski type" RELATED [GARD:0003223]
synonym: "Lenz Majewski hyperostotic dwarfism" RELATED [GARD:0003223]
synonym: "Lenz-Majewski hyperostotic dwarfism" EXACT [MONDO:Lexical, OMIM:151050]
synonym: "Lenz-Majewski hyperostotic dysplasia" RELATED [GARD:0003223]
synonym: "Lenz-Majewski syndrome" RELATED [OMIM:151050]
synonym: "LMHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151050]
synonym: "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis" RELATED [GARD:0003223]
synonym: "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" RELATED DEPRECATED [GARD:0003223]
xref: DOID:0111507 {source="MONDO:equivalentTo"}
xref: GARD:3223 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2658", source="Orphanet:2658/attributed", source="Orphanet:2658/ntbt"}
xref: MEDGEN:98483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537115 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"}
xref: OMIM:151050 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"}
xref: Orphanet:2658 {source="OMIM:151050", source="MONDO:equivalentTo"}
xref: UMLS:C0432269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98483"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2658"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:2658"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2658", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2658", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9587 {source="MONDO:mim2gene_medgen"} ! PTDSS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism" xsd:anyURI {source="GARD:0003223"}

[Term]
id: MONDO:0007893
name: Noonan syndrome with multiple lentigines
def: "A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." [https://orcid.org/0000-0001-5208-3432, Orphanet:500]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1100", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1360", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500"}
subset: ordo_malformation_syndrome {source="Orphanet:500"}
subset: orphanet_rare {source="Orphanet:500"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [DOID:14291]
synonym: "cardiocutaneous syndrome" RELATED EXCLUDE [DOID:14291]
synonym: "Cardiomyopathic lentiginosis" EXACT [Orphanet:500]
synonym: "familial multiple lentigines syndrome" EXACT [Orphanet:500]
synonym: "generalised lentiginosis" EXACT OMO:0003005 []
synonym: "generalized lentiginosis" EXACT [DOID:14291]
synonym: "Gorlin syndrome II" EXACT [DOID:14291]
synonym: "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes" RELATED [GARD:0001100]
synonym: "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness" EXACT [NCIT:C84820]
synonym: "lentiginosis profusa syndrome" EXACT [DOID:14291]
synonym: "LEOPARD syndrome" EXACT [DOID:14291, MONDO:0001937, Orphanet:500]
synonym: "Moynahan syndrome" RELATED [DOID:14291]
synonym: "Noonan syndrome with multiple lentigines" EXACT CLINGEN_LABEL []
synonym: "progressive cardiomyopathic lentiginosis" EXACT [DOID:14291]
xref: DOID:14291 {source="MONDO:equivalentTo"}
xref: GARD:1100 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:500", source="Orphanet:500/attributed", source="Orphanet:500/ntbt"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062901 {source="Orphanet:500", source="Orphanet:500/e"}
xref: MEDGEN:104494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537116 {source="Orphanet:500", source="Orphanet:500/e"}
xref: MESH:D044542 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e"}
xref: NCIT:C84820 {source="DOID:14291", source="MONDO:equivalentTo"}
xref: NORD:1360 {source="MONDO:NORD"}
xref: OMIMPS:151100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:500 {source="MONDO:equivalentTo", source="OMIM:151100"}
xref: SCTID:111306001 {source="DOID:14291", source="MONDO:equivalentTo"}
xref: UMLS:C0175704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104494"}
is_a: MONDO:0000426 {source="DOID:14291", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84820"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:500"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0020297 {source="Orphanet:500"} ! Noonan syndrome and Noonan-related syndrome
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:500"} ! hyperpigmentation of the skin
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:151100", source="Orphanet:500"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:151100"} ! inherited

[Term]
id: MONDO:0007894
name: Leri pleonosteosis
def: "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner." [Orphanet:2900]
subset: gard_rare {source="GARD:88", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1364"}
subset: ordo_disorder {source="Orphanet:2900"}
subset: ordo_malformation_syndrome {source="Orphanet:2900"}
subset: orphanet_rare {source="Orphanet:2900"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 8q22.1 DUPLICATION syndrome" RELATED [OMIM:151200]
synonym: "Leri pleonosteosis" EXACT [OMIM:151200]
synonym: "leri pleonosteosis chromosome duplication syndrome" EXACT [OMIM:151200, OMIM:genemap2]
synonym: "Leri type pleonosteosis" RELATED [GARD:0000088]
synonym: "Leri's pleonosteosis" RELATED [GARD:0000088]
synonym: "pleonosteosis Leri type" RELATED [GARD:0000088]
xref: GARD:88 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:2900", source="Orphanet:2900/attributed", source="Orphanet:2900/ntbt"}
xref: MEDGEN:331978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537118 {source="MONDO:equivalentTo", source="Orphanet:2900", source="Orphanet:2900/e"}
xref: NORD:1364 {source="MONDO:NORD"}
xref: OMIM:151200 {source="MONDO:equivalentTo", source="Orphanet:2900", source="Orphanet:2900/e"}
xref: Orphanet:2900 {source="MONDO:equivalentTo", source="OMIM:151200"}
xref: UMLS:C1835450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331978"}
is_a: MONDO:0019054 {source="GARD:0000088", source="Orphanet:2900"} ! congenital limb malformation
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis" xsd:anyURI {source="GARD:0000088"}

[Term]
id: MONDO:0007895
name: platyspondylic dysplasia, Torrance type
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85166"}
subset: ordo_malformation_syndrome {source="Orphanet:85166"}
subset: orphanet_rare {source="Orphanet:85166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lethal short-limbed Platyspondylic dwarfism Torrance type" RELATED [GARD:0004382]
synonym: "lethal short-limbed Platyspondylic dwarfism, Torrance type" RELATED [OMIM:151210]
synonym: "platyspondylic dysplasia, Torrance type" EXACT CLINGEN_LABEL []
synonym: "Platyspondylic dysplasia, Torrance-Luton type" EXACT [Orphanet:85166]
synonym: "Platyspondylic lethal skeletal dysplasia Torrance type" RELATED [GARD:0004382]
synonym: "Platyspondylic lethal skeletal dysplasia, Luton type" RELATED [OMIM:151210]
synonym: "Platyspondylic lethal skeletal dysplasia, Torrance type" EXACT [MONDO:Lexical, OMIM:151210, Orphanet:85166]
synonym: "platyspondylic skeletal dysplasia, Torrance type" EXACT [OMIM:151210, OMIM:genemap2]
synonym: "PLSD-T" EXACT [Orphanet:85166]
synonym: "PLSDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151210]
synonym: "thanatophoric dysplasia Torrance variant" RELATED [GARD:0004382]
synonym: "thanatophoric dysplasia, Luton variant" RELATED [OMIM:151210]
synonym: "thanatophoric dysplasia, Torrance variant" RELATED [OMIM:151210]
xref: DOID:0111508 {source="MONDO:equivalentTo"}
xref: GARD:4382 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:85166", source="Orphanet:85166/attributed", source="Orphanet:85166/ntbt"}
xref: MEDGEN:331974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563627 {source="MONDO:equivalentTo"}
xref: NANDO:2201347 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:151210 {source="Orphanet:85166", source="MONDO:equivalentTo", source="Orphanet:85166/e"}
xref: Orphanet:85166 {source="MONDO:equivalentTo", source="OMIM:151210"}
xref: UMLS:C1835437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331974"}
is_a: MONDO:0019694 {source="Orphanet:85166"} ! spondylodysplastic dysplasia
is_a: MONDO:0022800 {source="Orphanet:85166", source="PMID:31633310"} ! type 2 collagenopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007896
name: acute monocytic leukemia
def: "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." [Orphanet:514]
subset: gard_rare {source="GARD:525", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:514"}
subset: orphanet_rare {source="Orphanet:514"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute monoblastic leukaemia" RELATED OMO:0003005 []
synonym: "acute monoblastic leukaemia and acute monocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute monoblastic leukemia" RELATED [GARD:0000525]
synonym: "acute monoblastic leukemia and acute monocytic leukemia" EXACT [DOID:8864, NCIT:C7318]
synonym: "acute monoblastic/monocytic leukaemia" RELATED OMO:0003005 []
synonym: "acute monoblastic/monocytic leukemia" RELATED [ONCOTREE:AMOL]
synonym: "acute monocytic leukaemia (FAB M5B)" EXACT OMO:0003005 []
synonym: "acute monocytic leukaemia (FAB M5b)" EXACT OMO:0003005 []
synonym: "acute monocytic leukaemia without mention of remission" EXACT OMO:0003005 []
synonym: "acute monocytic leukemia" EXACT [GARD:0000525, NCIT:C4861, Orphanet:514]
synonym: "acute monocytic leukemia (FAB M5B)" EXACT [NCIT:C4861]
synonym: "acute monocytic leukemia (FAB M5b)" EXACT [NCIT:C4861]
synonym: "acute monocytic leukemia without mention of remission" EXACT [DOID:8864]
synonym: "acute monocytic leukemia, FAB M5" EXACT [DOID:8864]
synonym: "acute monocytic leukemia, morphology" EXACT [DOID:8864]
synonym: "acute monocytic leukemia, morphology (morphologic abnormality)" EXACT [DOID:8864]
synonym: "acute myeloblastic leukaemia type 5" RELATED OMO:0003005 []
synonym: "acute myeloblastic leukemia type 5" RELATED [GARD:0000525]
synonym: "AML M5" EXACT [GARD:0000525, Orphanet:514]
synonym: "AML-M5" RELATED [GARD:0000525]
synonym: "leukemia, acute monocytic" RELATED [OMIM:151380]
synonym: "leukemia, monocytic, malignant" EXACT [NCIT:C4861]
synonym: "monocytic leukaemia" BROAD OMO:0003005 []
synonym: "monocytic leukemia" BROAD [NCIT:C4861]
synonym: "monocytic leukemia, acute" EXACT [MONDO:patterns/acute]
xref: CSP:2004-2820 {source="DOID:8864"}
xref: DOID:8864 {source="EFO:0000221", source="MONDO:equivalentTo"}
xref: EFO:0000221 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:525 {source="MONDO:GARD"}
xref: icd11.foundation:517546180 {source="Orphanet:514", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:206.0 {source="DOID:8864", source="EFO:0000221"}
xref: ICDO:9891/3 {source="NCIT:C4861"}
xref: MedDRA:10000871 {source="Orphanet:514", source="Orphanet:514/e"}
xref: MedDRA:10059439 {source="Orphanet:514", source="Orphanet:514/e"}
xref: MEDGEN:7319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007948 {source="DOID:8864", source="EFO:0000221", source="Orphanet:514", source="MONDO:equivalentTo", source="Orphanet:514/e"}
xref: NANDO:2200008 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200009 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4861 {source="EFO:0000221", source="MONDO:equivalentTo"}
xref: OMIM:151380 {source="DOID:8864", source="EFO:0000221", source="MONDO:equivalentTo"}
xref: ONCOTREE:AMOL {source="MONDO:equivalentTo"}
xref: Orphanet:514 {source="MONDO:equivalentTo", source="GARD:0000525"}
xref: SCTID:154594005 {source="DOID:8864"}
xref: SCTID:22331004 {source="DOID:8864", source="EFO:0000221"}
xref: SCTID:413441006 {source="DOID:8864", source="EFO:0000221", source="MONDO:equivalentTo"}
xref: SCTID:91859000 {source="DOID:8864"}
xref: UMLS:C0023465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7319"}
is_a: MONDO:0004600 {source="DOID:8864", source="MONDO:Redundant"} ! monocytic leukemia
is_a: MONDO:0018874 {source="EFO:0000221", source="MESH:D007948", source="NCIT:C4861/inferred", source="ONCOTREE:AMOL/inferred", source="Orphanet:514/inferred"} ! acute myeloid leukemia
intersection_of: MONDO:0004600 ! monocytic leukemia
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0000221", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia" xsd:anyURI {source="GARD:0000525"}

[Term]
id: MONDO:0007897
name: obsolete leukemia, chronic lymphocytic
is_obsolete: true
replaced_by: MONDO:0004948

[Term]
id: MONDO:0007898
name: leukocyte nuclear appendages, hereditary prevalence of
synonym: "leukocyte nuclear appendages, hereditary prevalence of" EXACT [OMIM:151500]
xref: MEDGEN:320594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563626 {source="MONDO:equivalentTo"}
xref: OMIM:151500 {source="MONDO:equivalentTo"}
xref: UMLS:C1835405 {source="MEDGEN:320594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007899
name: lichen sclerosus et atrophicus
def: "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." [NCIT:C26817]
subset: otar {source="MONDO:OTAR"}
synonym: "lichen sclerosis" RELATED [GARD:0006905]
synonym: "lichen sclerosis et atrophicus" RELATED [GARD:0006905]
synonym: "lichen sclerosus" RELATED [GARD:0006905]
synonym: "lichen SCLEROSUS ET ATROPHICUS" RELATED [OMIM:151590]
synonym: "lichen sclerosus et atrophicus" EXACT [MONDO:Lexical, OMIM:151590, Orphanet:33409]
synonym: "LSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151590]
xref: ICD10CM:L90.0 {source="MONDO:equivalentTo"}
xref: MEDGEN:7338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018459 {source="MONDO:equivalentTo"}
xref: NCIT:C26817 {source="MONDO:equivalentTo"}
xref: OMIM:151590 {source="MONDO:equivalentTo"}
xref: Orphanet:33409 {source="MONDO:equivalentObsolete", source="OMIM:151590"}
xref: SCTID:25674000 {source="MONDO:equivalentTo"}
xref: UMLS:C0023652 {source="MONDO:equivalentTo", source="MEDGEN:7338", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="NCIT:C26817"} ! dermatitis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007900
name: nonsyndromic congenital nail disorder 3
def: "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:2555", source="MONDO:GARD"}
subset: rare
synonym: "Gorlin Bushkell Jensen syndrome" RELATED [GARD:0002555]
synonym: "inherited isolated nail anomaly caused by mutation in PLCD1" EXACT [MONDO:design_pattern]
synonym: "leukonychia punctata" RELATED [OMIM:151600]
synonym: "leukonychia Striatus" RELATED [OMIM:151600]
synonym: "leukonychia totalis and/or partialis" RELATED [OMIM:151600]
synonym: "leukonychia totalis multiple sebaceous cysts renal calculi" RELATED [GARD:0002555]
synonym: "nail disorder, nonsyndromic congenital, 3" RELATED [MONDO:Lexical, OMIM:151600]
synonym: "nail disorder, nonsyndromic congenital, 3, (leukonychia)" EXACT [OMIM:151600, OMIM:genemap2]
synonym: "nail disorder, nonsyndromic congenital, type 3" EXACT [MONDORULE:1, OMIM:151600]
synonym: "NDNC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151600]
synonym: "nonsyndromic congenital nail disorder type 3" EXACT [DOID:0080081, MONDORULE:1]
synonym: "PLCD1 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "porcelain nails" RELATED [OMIM:151600]
xref: DOID:0080081 {source="MONDO:equivalentTo"}
xref: GARD:2555 {source="MONDO:GARD"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:107463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537289 {source="MONDO:equivalentTo"}
xref: OMIM:151600 {source="GARD:0002555", source="MONDO:equivalentTo", source="DOID:0080081"}
xref: Orphanet:2387 {source="OMIM:151600", source="MONDO:directSiblingOf"}
xref: SCTID:74102009 {source="MONDO:equivalentTo"}
xref: UMLS:C0544855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107463"}
is_a: MONDO:0019284 {source="DC-OMIM:151600", source="MONDO:Redundant", source="OMIM:151600"} ! inherited isolated nail anomaly
intersection_of: MONDO:0019284 ! inherited isolated nail anomaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9060 ! PLCD1
relationship: excluded_subClassOf MONDO:0016471 {source="MESH:C537289", source="https://orcid.org/0000-0001-5208-3432"} ! pachyonychia congenita
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9060 {source="MONDO:mim2gene_medgen"} ! PLCD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome" xsd:anyURI {source="GARD:0002555"}

[Term]
id: MONDO:0007901
name: levator-medial rectus synkinesis
synonym: "levator-medial rectus synkinesis" EXACT [OMIM:151610]
synonym: "oculomotor-levator synkinesis" RELATED [OMIM:151610]
xref: MEDGEN:320592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563625 {source="MONDO:equivalentTo"}
xref: OMIM:151610 {source="MONDO:equivalentTo"}
xref: UMLS:C1835403 {source="MEDGEN:320592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007902
name: lichen planus, familial
def: "An instance of lichen planus that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "hereditary lichen planus" EXACT [MONDO:patterns/hereditary]
synonym: "lichen planus, familial" EXACT [OMIM:151620]
xref: MEDGEN:372036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563624 {source="MONDO:equivalentTo"}
xref: OMIM:151620 {source="MONDO:equivalentTo"}
xref: UMLS:C1835402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372036"}
is_a: MONDO:0006572 {source="MESH:C563624", source="MONDO:Redundant"} ! lichen planus
intersection_of: MONDO:0006572 ! lichen planus
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0007903
name: obsolete Li-Fraumeni syndrome 1
subset: clingen {source="MONDO:CLINGEN"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6269" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018875

[Term]
id: MONDO:0007904
name: median nodule of the upper lip
def: "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." [Orphanet:2699]
subset: gard_rare {source="GARD:3440", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2699"}
subset: ordo_malformation_syndrome {source="Orphanet:2699"}
subset: orphanet_rare {source="Orphanet:2699"}
subset: rare
synonym: "LIP, MEDIAN NODULE of upper" RELATED [OMIM:151630]
xref: GARD:3440 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:2699", source="Orphanet:2699/attributed", source="Orphanet:2699/ntbt"}
xref: MEDGEN:372034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:151630 {source="MONDO:equivalentTo", source="Orphanet:2699", source="Orphanet:2699/e"}
xref: Orphanet:2699 {source="MONDO:equivalentTo", source="OMIM:151630"}
xref: SCTID:722034006 {source="MONDO:equivalentTo"}
xref: UMLS:C1835396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372034"}
is_a: MONDO:0015161 {source="Orphanet:2699"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2699", source="Orphanet:2699/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip" xsd:anyURI {source="GARD:0003440"}

[Term]
id: MONDO:0007905
name: lip, hamartomatous
synonym: "enlargement of Lower lip" RELATED [OMIM:151640]
synonym: "lip, hamartomatous" EXACT [OMIM:151640]
xref: MEDGEN:331965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563621 {source="MONDO:equivalentTo"}
xref: OMIM:151640 {source="MONDO:equivalentTo"}
xref: UMLS:C1835395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331965"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007906
name: familial partial lipodystrophy, Dunnigan type
def: "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." [Orphanet:2348]
subset: gard_rare {source="GARD:3126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2348"}
subset: orphanet_rare {source="Orphanet:2348"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dunnigan syndrome" EXACT [Orphanet:2348]
synonym: "familial lipodystrophy of limbs and lower trunk" EXACT [DOID:0070202]
synonym: "familial partial lipodystrophy Dunnigan type" EXACT [DOID:0070202]
synonym: "familial partial lipodystrophy type 2" EXACT [Orphanet:2348]
synonym: "FPL2" RELATED ABBREVIATION [OMIM:151660]
synonym: "FPLD2" EXACT ABBREVIATION [DOID:0070202, MONDO:Lexical, OMIM:151660, Orphanet:2348]
synonym: "lipoatrophic diabetes" RELATED EXCLUDE [DOID:0070202]
synonym: "lipodystrophy, familial partial, Dunnigan type" RELATED [OMIM:151660]
synonym: "lipodystrophy, familial partial, type 2" RELATED [MONDO:Lexical, OMIM:151660]
synonym: "lipodystrophy, familial, of limbs and Lower trunk" RELATED [OMIM:151660]
synonym: "lipodystrophy, reverse partial" RELATED [OMIM:151660]
synonym: "reverse partial lipodystrophy" EXACT [DOID:0070202]
xref: DOID:0070202 {source="MONDO:equivalentTo"}
xref: GARD:3126 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:2348", source="Orphanet:2348/attributed", source="Orphanet:2348/ntbt"}
xref: MEDGEN:354526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:151660 {source="MONDO:equivalentTo", source="Orphanet:2348", source="DOID:0070202", source="Orphanet:2348/e"}
xref: Orphanet:2348 {source="MONDO:equivalentTo", source="DOID:0070202", source="OMIM:151660"}
xref: SCTID:715439000 {source="MONDO:equivalentTo"}
xref: UMLS:C1720860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354526"}
is_a: MONDO:0003847 {source="DOID:0070202"} ! hereditary disease
is_a: MONDO:0020088 {source="DC-OMIM:151660", source="DOID:0070202", source="OMIM:151660", source="Orphanet:2348"} ! familial partial lipodystrophy
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2348", source="Orphanet:2348/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:2348", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI

[Term]
id: MONDO:0007907
name: lipoma of the conjunctiva
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lipoma of the conjunctiva" EXACT [OMIM:151700]
xref: MEDGEN:372030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563620 {source="MONDO:equivalentTo"}
xref: OMIM:151700 {source="MONDO:equivalentTo"}
xref: UMLS:C1835373 {source="MEDGEN:372030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005106 {source="MESH:C563620", source="MONDO:Redundant"} ! lipoma
relationship: disease_has_location UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0007908
name: multiple symmetric lipomatosis
def: "Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." [Orphanet:2398]
subset: gard_rare {source="GARD:6957", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1392", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2398"}
subset: orphanet_rare {source="Orphanet:2398"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign symmetrical lipomatosis" RELATED [GARD:0006957]
synonym: "cephalothoracic lipodystrophy" EXACT [Orphanet:2398]
synonym: "cervical symmetrical lipomatosis" EXACT [DOID:14116, NCIT:C4392]
synonym: "familial benign cervical lipomatosis" EXACT [Orphanet:2398]
synonym: "familial symmetric lipomatosis" RELATED [GARD:0006957]
synonym: "Launois-Bensaude lipomatosis" EXACT [Orphanet:2398]
synonym: "Launois-Bensaude syndrome" RELATED [GARD:0006957]
synonym: "Launois-Bensaude's lipomatosis" EXACT [DOID:14116]
synonym: "lipodystrophy, cephalothoracic" EXACT [DOID:14116, OMIM:151800]
synonym: "lipomatosis, familial benign cervical" EXACT [DOID:14116, OMIM:151800]
synonym: "lipomatosis, multiple symmetric" RELATED [MONDO:Lexical, OMIM:151800]
synonym: "Madelung disease" BROAD [Orphanet:2398]
synonym: "Madelung's Disease" EXACT [NORD:1392]
synonym: "Madelung's disease" RELATED [GARD:0006957]
synonym: "Madelung's neck" EXACT [DOID:14116]
synonym: "MSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151800]
synonym: "multiple symmetric lipomatosis" EXACT [DOID:14116]
synonym: "multiple symmetrical lipomatosis" EXACT [MONDO:0002521, NCIT:C4392]
xref: DOID:14116 {source="MONDO:equivalentTo", source="EFO:1000737"}
xref: DOID:3137 {source="MONDO:obsolete", source="EFO:1000737"}
xref: EFO:1000737 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6957 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:2398/ntbt", source="Orphanet:2398", source="Orphanet:2398/inclusion"}
xref: MEDGEN:7349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008069 {source="DOID:3137", source="DOID:14116"}
xref: NCIT:C4392 {source="MONDO:equivalentTo", source="DOID:14116"}
xref: NORD:1392 {source="MONDO:NORD"}
xref: OMIM:151800 {source="Orphanet:2398", source="MONDO:equivalentTo", source="Orphanet:2398/e", source="DOID:14116"}
xref: Orphanet:2398 {source="OMIM:151800", source="MONDO:equivalentTo"}
xref: SCTID:238902007 {source="DOID:3137", source="MONDO:equivalentTo"}
xref: SCTID:254832003 {source="DOID:3137"}
xref: SCTID:63365006 {source="DOID:14116"}
xref: UMLS:C0023804 {source="MONDO:equivalentTo", source="MEDGEN:7349", source="MONDO:MEDGEN"}
is_a: MONDO:0006574 {source="DOID:14116", source="EFO:1000737", source="MONDO:Redundant", source="NCIT:C4392"} ! lipomatosis
is_a: MONDO:0019296 {source="Orphanet:2398"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis" xsd:anyURI {source="GARD:0006957"}

[Term]
id: MONDO:0007909
name: familial multiple lipomatosis
def: "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." [Orphanet:199276]
subset: gard_rare {source="GARD:12925", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199276"}
subset: orphanet_rare {source="Orphanet:199276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lipoma" RELATED [OMIM:151900]
synonym: "lipomatosis, familial multiple" RELATED [OMIM:151900]
synonym: "lipomatosis, multiple" RELATED [OMIM:151900]
xref: DOID:0070518 {source="MONDO:equivalentTo"}
xref: GARD:12925 {source="MONDO:GARD"}
xref: ICD10CM:E88.2 {source="Orphanet:199276/attributed", source="Orphanet:199276/ntbt", source="Orphanet:199276"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:214.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:698553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000071070 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: OMIM:151900 {source="Orphanet:199276", source="MONDO:equivalentTo", source="Orphanet:199276/e"}
xref: Orphanet:199276 {source="OMIM:151900", source="MONDO:equivalentTo"}
xref: SCTID:766888002 {source="MONDO:equivalentTo"}
xref: UMLS:C1275273 {source="MEDGEN:698553", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000652 {source="MONDO:Redundant", source="MONDO:indirect"} ! integumentary system benign neoplasm
is_a: MONDO:0005070 {source="MONDO:Redundant", source="MONDO:indirect"} ! neoplasm
is_a: MONDO:0005106 {source="MONDO:Redundant", source="OMIM:151900"} ! lipoma
is_a: MONDO:0019296 {source="Orphanet:199276"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949", source="MONDO:0020031"} ! rare

[Term]
id: MONDO:0007910
name: lipoprotein types--Lt system
synonym: "lipoprotein types--Lt system" EXACT [OMIM:152300]
xref: MEDGEN:322644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:152300 {source="MONDO:equivalentTo"}
xref: UMLS:C1835359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322644"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007911
name: lipoprotein, variant of beta
synonym: "Beta-lipoprotein, Double" RELATED [OMIM:152400]
synonym: "lipoprotein, variant of beta" EXACT [OMIM:152400]
xref: MEDGEN:322642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:152400 {source="MONDO:equivalentTo"}
xref: UMLS:C1835357 {source="MONDO:equivalentTo", source="MEDGEN:322642", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007912
name: lithium transport
synonym: "lithium transport" EXACT [OMIM:152420]
xref: MEDGEN:331956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:152420 {source="MONDO:equivalentTo"}
xref: UMLS:C1835356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331956"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007913
name: low density lipoprotein, variation in molecular weight of
synonym: "LOW density lipoprotein, variation in molecular weight OF" RELATED [OMIM:152450]
xref: MEDGEN:322635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:152450 {source="MONDO:equivalentTo"}
xref: UMLS:C1835321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322635"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007914
name: lumbar stenosis, familial
synonym: "lumbar stenosis, familial" EXACT [OMIM:152550]
xref: MEDGEN:372016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563613 {source="MONDO:equivalentTo"}
xref: OMIM:152550 {source="MONDO:equivalentTo"}
xref: UMLS:C1835320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372016"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007915
name: systemic lupus erythematosus
def: "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." [NCIT:P378]
subset: gard_rare {source="GARD:18695", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1380", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:536"}
subset: orphanet_rare {source="Orphanet:536"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disseminated lupus erythematosus" EXACT [DOID:9074]
synonym: "excess LMW-DNA" RELATED [OMIM:152700]
synonym: "excess lymphocyte low molecular weight DNA" RELATED [OMIM:152700]
synonym: "Lupus" EXACT [NORD:1380]
synonym: "lupus erythematosus, systemic" EXACT [DOID:9074, MTH:U002054]
synonym: "lupus nephritis, susceptibility to" RELATED [OMIM:152700, OMIM:genemap2]
synonym: "SLE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:152700]
synonym: "SLE - lupus erythematosus, systemic" EXACT [DOID:9074, NCIT:C3201]
synonym: "systemic lupus erythematosus" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:152700]
synonym: "systemic lupus erythematosus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "systemic lupus erythematosus susceptibility to" EXACT [OMIM:152700, OMIM:genemap2]
synonym: "systemic lupus erythematosus, susceptibility to" EXACT [OMIM:152700, OMIM:genemap2]
xref: DOID:9074 {source="MONDO:equivalentTo", source="EFO:0002690"}
xref: GARD:18695 {source="MONDO:GARD"}
xref: HP:0002725 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M32 {source="DOID:9074"}
xref: ICD10CM:M32.0 {source="Orphanet:536"}
xref: ICD10CM:M32.1 {source="Orphanet:536"}
xref: ICD10CM:M32.8 {source="Orphanet:536"}
xref: ICD10CM:M32.9 {source="Orphanet:536", source="DOID:9074"}
xref: icd11.foundation:749596428 {source="Orphanet:536", source="MONDO:equivalentTo"}
xref: ICD9:710.0 {source="DOID:9074", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0002690"}
xref: MEDGEN:6146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008180 {source="Orphanet:536", source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690"}
xref: NANDO:1200272 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200416 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3201 {source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690"}
xref: NORD:1380 {source="MONDO:NORD"}
xref: OMIM:152700 {source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:536 {source="OMIM:152700", source="DOID:9074", source="MONDO:equivalentTo"}
xref: SCTID:156450004 {source="DOID:9074"}
xref: SCTID:201435004 {source="DOID:9074"}
xref: SCTID:201439005 {source="DOID:9074"}
xref: SCTID:55464009 {source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690"}
xref: UMLS:C0024141 {source="MEDGEN:6146", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:536"} ! disease
is_a: MONDO:0004670 {source="DOID:9074", source="NCIT:C3201"} ! lupus erythematosus
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:536", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:536", source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic microangiopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI
property_value: IAO:0000589 "systemic lupus erythematosus (disease)" xsd:string

[Term]
id: MONDO:0007916
name: primary intestinal lymphangiectasia
def: "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." [Orphanet:90362]
subset: gard_rare {source="GARD:7873", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1609"}
subset: ordo_disorder {source="Orphanet:90362"}
subset: orphanet_rare {source="Orphanet:90362"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial Waldmann's disease (type)" RELATED [GARD:0007873]
synonym: "lymphangiectasia, intestinal" RELATED [OMIM:152800]
synonym: "primary intestinal lymphangiectasis" RELATED [GARD:0007873]
synonym: "Waldmann disease" EXACT [Orphanet:90362]
synonym: "Waldmann's disease" RELATED [GARD:0007873]
xref: GARD:7873 {source="MONDO:GARD"}
xref: ICD10CM:I89.0 {source="Orphanet:90362/attributed", source="Orphanet:90362/ntbt", source="Orphanet:90362"}
xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:444009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536567 {source="Orphanet:90362", source="Orphanet:90362/e"}
xref: NORD:1609 {source="MONDO:NORD"}
xref: OMIM:152800 {source="Orphanet:90362", source="MONDO:equivalentTo", source="Orphanet:90362/e"}
xref: Orphanet:90362 {source="OMIM:152800", source="MONDO:equivalentTo"}
xref: SCTID:6124009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444009"}
is_a: MONDO:0005020 {source="Orphanet:90362"} ! intestinal disorder
is_a: MONDO:0018178 {source="Orphanet:90362"} ! intestinal lymphangiectasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia" xsd:anyURI {source="GARD:0007873"}

[Term]
id: MONDO:0007917
name: lymphedema-cerebral arteriovenous anomaly syndrome
def: "Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." [Orphanet:86914]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
subset: gard_rare {source="GARD:9217", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:86914"}
subset: ordo_malformation_syndrome {source="Orphanet:86914"}
subset: orphanet_rare {source="Orphanet:86914"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphedema and cerebral arteriovenous anomaly" RELATED [OMIM:152900]
synonym: "primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet" RELATED [GARD:0009217]
xref: GARD:9217 {source="MONDO:GARD"}
xref: MEDGEN:322617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563612 {source="MONDO:equivalentTo"}
xref: OMIM:152900 {source="Orphanet:86914/e", source="MONDO:equivalentTo", source="Orphanet:86914"}
xref: Orphanet:86914 {source="OMIM:152900", source="MONDO:equivalentTo"}
xref: UMLS:C1835272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322617"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0007918
name: microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
def: "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." [Orphanet:2526]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2526"}
subset: ordo_malformation_syndrome {source="Orphanet:2526"}
subset: orphanet_rare {source="Orphanet:2526"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cdmmr syndrome" RELATED [OMIM:152950]
synonym: "chorioretinal dysplasia-microcephaly-intellectual disability syndrome" EXACT [DOID:0060349]
synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT DEPRECATED [DOID:0060349]
synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT [DOID:0060349]
synonym: "lymphedema and retinal Folds with microcephaly and microphthalmos" RELATED [OMIM:152950]
synonym: "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT [DOID:0060349, GARD:0003622]
synonym: "lymphedema, microcephaly, chorioretinopathy syndrome" RELATED [OMIM:152950]
synonym: "MCLMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:152950]
synonym: "microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant" RELATED [OMIM:152950]
synonym: "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" RELATED DEPRECATED [OMIM:152950]
synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT [DOID:0060349]
synonym: "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:152950]
synonym: "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:152950]
synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT [DOID:0060349, OMIM:152950]
synonym: "microcephaly-lymphedema-chorioretinopathy syndrome" RELATED [Orphanet:2526]
synonym: "MLCRD" EXACT ABBREVIATION [Orphanet:2526]
synonym: "Mlcrd syndrome" RELATED [OMIM:152950]
xref: DOID:0060349 {source="MONDO:equivalentTo"}
xref: GARD:3622 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2526", source="Orphanet:2526/attributed", source="Orphanet:2526/ntbt"}
xref: MEDGEN:320559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537711 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"}
xref: OMIM:152950 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"}
xref: Orphanet:2526 {source="MONDO:equivalentTo", source="DOID:0060349", source="OMIM:152950"}
xref: UMLS:C1835265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320559"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019118 {source="Orphanet:2526"} ! inherited retinal dystrophy
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6388 {source="MONDO:mim2gene_medgen"} ! KIF11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0007919
name: lymphatic malformation 1
def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79452"}
subset: orphanet_rare {source="Orphanet:79452"}
subset: rare
synonym: "congenital hereditary lymphedema" EXACT [GARD:0007220]
synonym: "congenital primary lymphedema" EXACT [Orphanet:79452]
synonym: "early onset lymphedema" EXACT [GARD:0007220]
synonym: "FLT4 hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary lymphedema 1" EXACT [GARD:0007220]
synonym: "hereditary lymphedema caused by mutation in FLT4" EXACT [MONDO:design_pattern]
synonym: "hereditary lymphedema type I" EXACT [Orphanet:79452]
synonym: "LMPH1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153100]
synonym: "lymphedema, early-onset" EXACT [OMIM:153100]
synonym: "lymphedema, hereditary, 1A" EXACT [MONDO:Lexical, OMIM:153100]
synonym: "lymphedema, hereditary, type 1A" EXACT [MONDORULE:4, OMIM:153100]
synonym: "Milroy disease" EXACT [OMIM:153100]
synonym: "Nonne-Milroy disease" EXACT [GARD:0007220]
synonym: "Nonne-Milroy lymphedema" EXACT [OMIM:153100, Orphanet:79452]
synonym: "Nonne-Milroy syndrome" EXACT [GARD:0007220]
synonym: "Nonne’s syndrome" EXACT [GARD:0007220]
synonym: "primary congenital lymphedema" EXACT [OMIM:153100]
xref: DOID:0070210 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0070212 {source="MONDO:equivalentTo"}
xref: GARD:3328 {source="MONDO:GARD"}
xref: MEDGEN:309963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:153100 {source="MONDO:equivalentTo"}
xref: Orphanet:79452 {source="MONDO:equivalentTo", source="OMIM:153100"}
xref: SCTID:399889006 {source="MONDO:equivalentTo"}
xref: UMLS:C1704423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309963"}
is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:153100", source="Orphanet:79452/btnt"} ! lymphatic malformation
intersection_of: MONDO:0019313 ! lymphatic malformation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3767 ! FLT4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3767 {source="MONDO:mim2gene_medgen"} ! FLT4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2768" xsd:anyURI

[Term]
id: MONDO:0007920
name: lymphatic malformation 5
def: "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." [Orphanet:90186]
subset: gard_rare {source="GARD:3324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90186"}
subset: orphanet_rare {source="Orphanet:90186"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary lymphedema type II" EXACT [Orphanet:90186]
synonym: "late-onset lymphedema" EXACT [DOID:0070213]
synonym: "late-onset primary lymphedema" EXACT [Orphanet:90186]
synonym: "LMPH2" EXACT ABBREVIATION [DOID:0070213, MONDO:Lexical, OMIM:153200]
synonym: "lymphedema hereditary type 2" RELATED [GARD:0003324]
synonym: "lymphedema praecox" RELATED [OMIM:153200]
synonym: "lymphedema preacox" EXACT [DOID:0070213]
synonym: "lymphedema, hereditary, II" RELATED [MONDO:Lexical, OMIM:153200]
synonym: "lymphedema, late-onset" RELATED [OMIM:153200]
synonym: "Meige disease" EXACT [DOID:0070213, OMIM:153200]
synonym: "Meige lymphedema" EXACT [DOID:0070213, OMIM:153200, Orphanet:90186]
xref: DOID:0070213 {source="MONDO:equivalentTo"}
xref: GARD:3324 {source="MONDO:GARD"}
xref: ICD10CM:Q82.0 {source="Orphanet:90186/ntbt", source="Orphanet:90186", source="Orphanet:90186/index"}
xref: MedDRA:10027138 {source="Orphanet:90186", source="Orphanet:90186/e"}
xref: MEDGEN:1648463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562467 {source="MONDO:equivalentTo"}
xref: OMIM:153200 {source="Orphanet:90186", source="MONDO:equivalentTo", source="DOID:0070213", source="Orphanet:90186/e"}
xref: Orphanet:90186 {source="MONDO:equivalentTo", source="DOID:0070213", source="OMIM:153200"}
xref: SCTID:230325003 {source="DOID:3982", source="MONDO:relatedTo"}
xref: SCTID:400040008 {source="MONDO:equivalentTo"}
xref: UMLS:C4746631 {source="MEDGEN:1648463", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000486 {source="DOID:3982"} ! craniofacial dystonia
is_a: MONDO:0019313 {source="DOID:0070213", source="OMIM:153200"} ! lymphatic malformation

[Term]
id: MONDO:0007921
name: yellow nail syndrome
def: "A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." [https://orcid.org/0000-0001-5208-3432, Orphanet:662]
subset: gard_rare {source="GARD:184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1874"}
subset: ordo_disorder {source="Orphanet:662"}
subset: orphanet_rare {source="Orphanet:662"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphedema and Yellow nails" RELATED [OMIM:153300]
synonym: "lymphedema with yellow nails" EXACT [Orphanet:662]
synonym: "yellow nail syndrome" EXACT [OMIM:153300]
synonym: "YNS" EXACT ABBREVIATION [Orphanet:662]
synonym: "Yns" RELATED [OMIM:153300]
xref: DOID:0050468 {source="MONDO:equivalentTo"}
xref: EFO:1001452 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:184 {source="MONDO:GARD"}
xref: ICD10CM:L60.5 {source="MONDO:equivalentTo", source="Orphanet:662/ntbt", source="DOID:0050468", source="Orphanet:662"}
xref: icd11.foundation:47812081 {source="MONDO:equivalentTo", source="Orphanet:662"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:757.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048244 {source="Orphanet:662/e", source="Orphanet:662"}
xref: MEDGEN:113164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056684 {source="MONDO:equivalentTo", source="DOID:0050468"}
xref: NCIT:C85238 {source="MONDO:equivalentTo", source="DOID:0050468"}
xref: NORD:1874 {source="MONDO:NORD"}
xref: OMIM:153300 {source="Orphanet:662/e", source="MONDO:equivalentTo", source="DOID:0050468", source="Orphanet:662"}
xref: Orphanet:662 {source="MONDO:equivalentTo", source="OMIM:153300"}
xref: SCTID:400211001 {source="MONDO:equivalentTo", source="DOID:0050468"}
xref: SCTID:45342007 {source="DOID:0050468"}
xref: UMLS:C0221348 {source="MEDGEN:113164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0050468", source="MONDO:Redundant", source="NCIT:C85238"} ! syndromic disease
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome" xsd:anyURI {source="GARD:0000184"}

[Term]
id: MONDO:0007922
name: lymphedema-distichiasis syndrome
def: "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." [Orphanet:33001]
subset: gard_rare {source="GARD:333", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1383", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33001"}
subset: ordo_malformation_syndrome {source="Orphanet:33001"}
subset: orphanet_rare {source="Orphanet:33001"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary lymphedema-distichiasis syndrome (subtype)" RELATED [GARD:0000333]
synonym: "lymphedema with distichiasis" RELATED [OMIM:153400]
synonym: "lymphedema-distichiasis syndrome" EXACT CLINGEN_LABEL [OMIM:153400]
synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" RELATED [OMIM:153400]
xref: DOID:0111509 {source="MONDO:equivalentTo"}
xref: GARD:333 {source="MONDO:GARD"}
xref: ICD10CM:Q82.0 {source="Orphanet:33001/attributed", source="Orphanet:33001/ntbt", source="Orphanet:33001", source="MONDO:directSiblingOf"}
xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537710 {source="Orphanet:33001/e", source="MONDO:equivalentTo", source="Orphanet:33001"}
xref: NCIT:C128191 {source="MONDO:equivalentTo"}
xref: NORD:1383 {source="MONDO:NORD"}
xref: OMIM:153400 {source="Orphanet:33001/e", source="MONDO:equivalentTo", source="Orphanet:33001"}
xref: Orphanet:33001 {source="MONDO:equivalentTo", source="OMIM:153400"}
xref: SCTID:8634009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265345 {source="MEDGEN:75566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C128191", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
relationship: disease_has_feature HP:0009743 {source="Orphanet:33001"} ! Distichiasis
relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:33001", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes distichiasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3801 {source="MONDO:mim2gene_medgen"} ! FOXC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome" xsd:anyURI {source="GARD:0000333"}

[Term]
id: MONDO:0007923
name: macrocephaly, benign familial
synonym: "benign familial macrocephaly" RELATED [GARD:0000147]
synonym: "benign familial megalencephaly" RELATED [GARD:0000147]
synonym: "Cole-Hughes syndrome" RELATED [OMIM:153470]
synonym: "macrocephaly, benign familial" EXACT [OMIM:153470]
xref: MEDGEN:113101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537717 {source="MONDO:equivalentTo"}
xref: OMIM:153470 {source="MONDO:equivalentTo"}
xref: UMLS:C0220690 {source="MEDGEN:113101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial" xsd:anyURI {source="GARD:0000147"}

[Term]
id: MONDO:0007924
name: Bannayan-Riley-Ruvalcaba syndrome
def: "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." [Orphanet:109]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:5887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1684"}
subset: ordo_disorder {source="Orphanet:109"}
subset: ordo_malformation_syndrome {source="Orphanet:109"}
subset: orphanet_rare {source="Orphanet:109"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bannayan syndrome" EXACT [NCIT:C3939]
synonym: "Bannayan-Riley-Ruvalcaba syndrome" EXACT [MONDO:Lexical, NCIT:C3939, OMIM:153480]
synonym: "Bannayan-Zonana syndrome" EXACT [DOID:0050657, NCIT:C3939, OMIM:153480]
synonym: "BRRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153480, Orphanet:109]
synonym: "BZS" RELATED ABBREVIATION [GARD:0005887]
synonym: "macrocephaly multiple lipomas and hemangiomata" RELATED [GARD:0005887]
synonym: "macrocephaly pseudopapilledema and multiple hemangiomas" RELATED [GARD:0005887]
synonym: "macrocephaly with multiple lipomas and hemangiomas" EXACT [NCIT:C3939]
synonym: "macrocephaly, multiple lipomas, and hemangiomata" RELATED [OMIM:153480]
synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" RELATED [OMIM:153480]
synonym: "Myhre-Riley-Smith syndrome" EXACT [Orphanet:109]
synonym: "RILEY-SMITH syndrome" EXACT [DOID:0050657]
synonym: "Riley-Smith syndrome" RELATED [OMIM:153480]
synonym: "RMSS" RELATED ABBREVIATION [GARD:0005887]
synonym: "Ruvalcaba -Myhre-Smith syndrome" RELATED [GARD:0005887]
synonym: "Ruvalcaba-MYHRE-SMITH syndrome" EXACT [DOID:0050657]
synonym: "Ruvalcaba-Myhre-Smith syndrome" RELATED [OMIM:153480]
xref: DOID:0050657 {source="MONDO:equivalentTo"}
xref: GARD:5887 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:109", source="Orphanet:109/attributed", source="Orphanet:109/ntbt"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3939 {source="MONDO:equivalentTo"}
xref: NORD:1684 {source="MONDO:NORD"}
xref: OMIM:153480 {source="MONDO:equivalentObsolete", source="Orphanet:109", source="DOID:0050657", source="Orphanet:109/e"}
xref: Orphanet:109 {source="OMIM:153480", source="MONDO:equivalentTo"}
xref: SCTID:21984008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78554"}
is_a: MONDO:0000426 {source="DOID:0050657", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005385 {source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder
is_a: MONDO:0015159 {source="Orphanet:109"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015185 {source="Orphanet:109"} ! intestinal polyposis syndrome
is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C3939", source="Orphanet:109/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0017623 {source="Orphanet:109"} ! PTEN hamartoma tumor syndrome
is_a: MONDO:0019716 {source="Orphanet:109"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:109", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:153480", source="Orphanet:109"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome" xsd:anyURI {source="GARD:0005887"}

[Term]
id: MONDO:0007925
name: myelodysplastic syndrome associated with isolated del(5q)
def: "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="GARD:8723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86841"}
subset: orphanet_rare {source="Orphanet:86841"}
subset: rare
synonym: "5q deletion syndrome" RELATED [GARD:0008723]
synonym: "5Q minus syndrome" EXACT [NCIT:C6867]
synonym: "5q syndrome" RELATED [GARD:0008723]
synonym: "5Q- syndrome" EXACT [NCIT:C6867, OMIM:153550]
synonym: "5q- syndrome" EXACT [NCIT:C6867, Orphanet:86841]
synonym: "5q- syndrome, refractory macrocytic anaemia due to 5q deletion" EXACT OMO:0003005 []
synonym: "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT [DOID:0090016]
synonym: "chromosome 5q deletion syndrome" EXACT [OMIM:153550]
synonym: "macrocytic Anemia, refractory, due to 5Q deletion" RELATED [OMIM:153550]
synonym: "macrocytic anemia, refractory, due to 5q deletion, somatic" EXACT [OMIM:153550, OMIM:genemap2]
synonym: "MAR" RELATED ABBREVIATION [GARD:0008723]
synonym: "megakaryocytes, unilobular nucleated" RELATED [OMIM:153550]
synonym: "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality" EXACT [NCIT:C6867]
synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT [DOID:0090016]
synonym: "myelodysplastic syndrome with 5q deletion" EXACT [NCIT:C6867]
synonym: "myelodysplastic syndrome with isolated del(5q)" EXACT [NCIT:C6867]
synonym: "refractory macrocytic anaemia due to 5q deletion" RELATED OMO:0003005 []
synonym: "refractory macrocytic anemia due to 5q deletion" RELATED [GARD:0008723]
xref: DOID:0090016 {source="MONDO:equivalentTo"}
xref: GARD:8723 {source="MONDO:GARD"}
xref: icd11.foundation:420472577 {source="Orphanet:86841", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9986/3 {source="NCIT:C6867"}
xref: MEDGEN:196625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535323 {source="MONDO:equivalentTo"}
xref: NCIT:C6867 {source="MONDO:equivalentTo"}
xref: OMIM:153550 {source="Orphanet:86841", source="MONDO:equivalentTo", source="DOID:0090016", source="Orphanet:86841/e"}
xref: Orphanet:86841 {source="MONDO:equivalentTo", source="DOID:0090016", source="OMIM:153550"}
xref: SCTID:277597005 {source="MONDO:equivalentTo"}
xref: UMLS:C0740302 {source="MEDGEN:196625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002280 {source="MONDO:Redundant"} ! anemia
is_a: MONDO:0002281 {source="DOID:0090016", source="MESH:C535323"} ! macrocytic anemia
is_a: MONDO:0016904 ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0018881 {source="NCIT:C6867", source="Orphanet:86841"} ! myelodysplastic syndrome
relationship: disease_arises_from_structure CHR:9606-chr5q {source="https://orcid.org/0000-0002-4142-7153"} ! 5q (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10387 {source="MONDO:mim2gene_medgen"} ! RPS14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI

[Term]
id: MONDO:0007926
name: obsolete Waldenstrom macroglobulinemia
comment: Split into generic and type 1 subtype from OMIM (OMIM:153600).
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2562" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100280

[Term]
id: MONDO:0007927
name: congenital macroglossia
subset: gard_rare {source="GARD:16599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2430"}
subset: ordo_malformation_syndrome {source="Orphanet:2430"}
subset: orphanet_rare {source="Orphanet:2430"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macroglossia" RELATED [OMIM:153630]
xref: GARD:16599 {source="MONDO:GARD"}
xref: ICD10CM:Q38.2 {source="Orphanet:2430", source="Orphanet:2430/attributed", source="Orphanet:2430/ntbt"}
xref: icd11.foundation:423141418 {source="Orphanet:2430", source="MONDO:equivalentTo"}
xref: ICD9:750.15 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531735 {source="Orphanet:2430", source="MONDO:equivalentTo", source="Orphanet:2430/e"}
xref: OMIM:153630 {source="Orphanet:2430", source="MONDO:equivalentTo", source="Orphanet:2430/e"}
xref: Orphanet:2430 {source="MONDO:equivalentTo", source="OMIM:153630"}
xref: SCTID:270516002 {source="MONDO:equivalentTo"}
xref: UMLS:C0009677 {source="MEDGEN:3588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015496 {source="MESH:C531735", source="Orphanet:2430"} ! macroglossia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0007928
name: obsolete Fechtner syndrome
xref: NCIT:C131642 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0007954

[Term]
id: MONDO:0007929
name: obsolete Epstein syndrome
xref: NCIT:C131639 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/396" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007954

[Term]
id: MONDO:0007930
name: Bernard-Soulier syndrome, type A2, autosomal dominant
def: "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p." [DOID:0111059, PMID:11222377, PMID:1730088]
subset: gard_rare {source="GARD:15082", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bernard-Soulier syndrome type A2" RELATED [DOID:0111059]
synonym: "Bernard-Soulier syndrome, type A2 (dominant)" EXACT [OMIM:153670, OMIM:genemap2]
synonym: "Bernard-Soulier syndrome, type A2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:153670]
synonym: "BSSA2" EXACT ABBREVIATION [DOID:0111059, MONDO:Lexical, OMIM:153670]
xref: DOID:0111059 {source="MONDO:equivalentTo"}
xref: GARD:15082 {source="MONDO:GARD"}
xref: MEDGEN:478706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:153670 {source="MONDO:equivalentTo", source="DOID:0111059"}
xref: Orphanet:274 {source="OMIM:153670"}
xref: UMLS:C3277076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:478706"}
is_a: MONDO:0009276 {source="DOID:0111059", source="OMIM:153670"} ! Bernard-Soulier syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4439 {source="MONDO:mim2gene_medgen"} ! GP1BA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007931
name: vitelliform macular dystrophy 2
def: "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." [Orphanet:1243]
subset: gard_rare {source="GARD:182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:853"}
subset: ordo_disorder {source="Orphanet:1243"}
subset: orphanet_rare {source="Orphanet:1243"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Best disease" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243]
synonym: "Best macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243]
synonym: "Best Vitelliform Macular Dystrophy" EXACT [NORD:853]
synonym: "Best vitelliform macular dystrophy, multifocal" RELATED [OMIM:153700]
synonym: "BEST1 retinopathy" EXACT [GARD:0010301]
synonym: "BMD" EXACT ABBREVIATION [Orphanet:1243]
synonym: "BVMD" EXACT ABBREVIATION [GARD:0000182, Orphanet:1243]
synonym: "early-onset vitelliform macular dystrophy" EXACT [Orphanet:1243]
synonym: "juvenile-onset vitelliform macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243]
synonym: "macular Degeneration, polymorphic vitelline" RELATED [OMIM:153700]
synonym: "macular degeneration, polymorphic vitelline" EXACT [GARD:0000182, https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/]
synonym: "macular dystrophy, vitelliform, 2" RELATED [MONDO:Lexical, OMIM:153700]
synonym: "macular dystrophy, vitelliform, type 2" EXACT [MONDORULE:1, OMIM:153700]
synonym: "polymorphic vitelline macular degeneration" EXACT [Orphanet:1243]
synonym: "vitelliform macular dystrophy type 2" EXACT [GARD:0000182, Orphanet:1243]
synonym: "vitelliform macular dystrophy, early-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700]
synonym: "vitelliform macular dystrophy, juvenile-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700]
synonym: "vitelliform macular dystrophy, type 2" NARROW [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/]
synonym: "VMD2" RELATED ABBREVIATION [GARD:0000182, MONDO:Lexical, OMIM:153700]
xref: GARD:182 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:1243/ntbt", source="MONDO:relatedTo", source="Orphanet:1243", source="Orphanet:1243/inclusion"}
xref: MEDGEN:411553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:853 {source="MONDO:NORD"}
xref: OMIM:153700 {source="Orphanet:1243", source="MONDO:equivalentTo", source="Orphanet:1243/e", source="GARD:0000182"}
xref: Orphanet:1243 {source="MONDO:equivalentTo", source="GARD:0000182", source="OMIM:153700"}
xref: SCTID:763387005 {source="MONDO:equivalentTo"}
xref: UMLS:C2745945 {source="MEDGEN:411553", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000390 {source="DC-OMIM:153700", source="OMIM:153700"} ! vitelliform macular dystrophy
is_a: MONDO:0020242 {source="MONDO:Redundant", source="Orphanet:1243"} ! hereditary macular dystrophy
is_a: MONDO:0700238 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1-related dominant retinopathy
intersection_of: MONDO:0000390 ! vitelliform macular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 ! BEST1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy" xsd:anyURI {source="GARD:0010301"}

[Term]
id: MONDO:0007932
name: age related macular degeneration 2
def: "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22." [DOID:0110015, PMID:10396622]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 2" EXACT [DOID:0110015, MONDORULE:1]
synonym: "ARMD2" EXACT ABBREVIATION [DOID:0110015, MONDO:Lexical, OMIM:153800]
synonym: "macular degeneration, age-related, 2" RELATED [MONDO:Lexical, OMIM:153800]
synonym: "macular Degeneration, age-related, type 2" EXACT [MONDORULE:1, OMIM:153800]
synonym: "macular Degeneration, Senile" RELATED [OMIM:153800]
synonym: "maculopathy, age-related, 2" RELATED [OMIM:153800]
xref: DOID:0110015 {source="MONDO:equivalentTo"}
xref: MEDGEN:501183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562479 {source="MONDO:equivalentTo"}
xref: OMIM:153800 {source="MONDO:equivalentTo", source="DOID:0110015"}
xref: UMLS:C3495438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501183"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:153800", source="DOID:0110015", source="OMIM:153800"} ! age-related macular degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="MONDO:mim2gene_medgen"} ! ABCA4

[Term]
id: MONDO:0007933
name: vitelliform macular dystrophy 1
subset: gard_rare {source="GARD:10120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "macular dystrophy, atypical vitelliform" RELATED [OMIM:153840]
synonym: "macular dystrophy, vitelliform, 1" RELATED [MONDO:Lexical, OMIM:153840]
synonym: "vitelliform macular dystrophy, atypical" RELATED [GARD:0010120]
synonym: "VMD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153840]
xref: GARD:10120 {source="MONDO:GARD"}
xref: MEDGEN:1636950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537832 {source="MONDO:equivalentTo"}
xref: OMIM:153840 {source="MONDO:equivalentTo"}
xref: Orphanet:99000 {source="OMIM:153840"}
xref: UMLS:C4551953 {source="MEDGEN:1636950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:153840"} ! vitelliform macular dystrophy
is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy

[Term]
id: MONDO:0007934
name: benign concentric annular macular dystrophy
def: "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration." [Orphanet:251287]
subset: gard_rare {source="GARD:9887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251287"}
subset: orphanet_rare {source="Orphanet:251287"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macular dystrophy, benign concentric annular" RELATED [OMIM:153870]
synonym: "macular dystrophy, concentric annular" RELATED [OMIM:153870]
synonym: "maculopathy, bull's eye" RELATED [GARD:0009887]
synonym: "Mcdca" RELATED [OMIM:153870]
synonym: "retinitis pigmentosa 91" EXACT [OMIM:153870, OMIM:genemap2]
xref: GARD:9887 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:251287/attributed", source="Orphanet:251287/ntbt", source="MONDO:relatedTo", source="Orphanet:251287"}
xref: MEDGEN:1794135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537833 {source="MONDO:equivalentTo"}
xref: OMIM:153870 {source="Orphanet:251287", source="MONDO:equivalentTo", source="Orphanet:251287/e"}
xref: Orphanet:251287 {source="MONDO:equivalentTo", source="OMIM:153870"}
xref: SCTID:719520001 {source="MONDO:equivalentTo"}
xref: UMLS:C5561925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794135"}
is_a: MONDO:0020242 {source="Orphanet:251287"} ! hereditary macular dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007935
name: cystoid macular edema
def: "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." [Orphanet:75381]
subset: gard_rare {source="GARD:16694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75381"}
subset: orphanet_rare {source="Orphanet:75381"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant cystoid macular edema" EXACT [Orphanet:75381]
synonym: "autosomal dominant cystoid macular oedema" EXACT OMO:0003005 []
synonym: "cystoid macular dystrophy" RELATED [OMIM:153880]
synonym: "DCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153880, Orphanet:75381]
synonym: "familial macular edema" EXACT [Orphanet:75381]
synonym: "familial macular oedema" EXACT OMO:0003005 []
synonym: "macular dystrophy, dominant cystoid" RELATED [MONDO:Lexical, OMIM:153880]
synonym: "macular edema, cystoid" RELATED [OMIM:153880]
synonym: "Mddc" RELATED [OMIM:153880]
xref: DOID:4447 {source="MONDO:equivalentTo"}
xref: GARD:16694 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75381/attributed", source="Orphanet:75381/ntbt", source="Orphanet:75381"}
xref: MEDGEN:7435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008269 {source="DOID:4447"}
xref: NCIT:C34794 {source="MONDO:equivalentTo", source="DOID:4447"}
xref: OMIM:153880 {source="Orphanet:75381/e", source="MONDO:equivalentTo", source="DOID:4447", source="Orphanet:75381"}
xref: Orphanet:75381 {source="MONDO:equivalentTo", source="OMIM:153880"}
xref: SCTID:193387007 {source="DOID:4447"}
xref: SCTID:312921000 {source="MONDO:equivalentTo"}
xref: UMLS:C0024440 {source="MEDGEN:7435", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003005 {source="DOID:4447", source="NCIT:C34794"} ! macular retinal edema

[Term]
id: MONDO:0007936
name: macular dystrophy, fenestrated sheen type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "macular dystrophy, fenestrated sheen type" EXACT [OMIM:153890]
xref: MEDGEN:331921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563607 {source="MONDO:equivalentTo"}
xref: OMIM:153890 {source="MONDO:equivalentTo"}
xref: UMLS:C1835173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331921"}
is_a: MONDO:0018102 {source="MESH:C563607"} ! corneal dystrophy
is_a: MONDO:0020242 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary macular dystrophy

[Term]
id: MONDO:0007937
name: renal hypomagnesemia 2
def: "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." [Orphanet:34528]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3350", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:34528"}
subset: orphanet_rare {source="Orphanet:34528"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" RELATED [DOID:0060885]
synonym: "familial primary hypomagnesemia caused by mutation in FXYD2" EXACT []
synonym: "FXYD2 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "FXYD2 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HOMG2" EXACT ABBREVIATION [DOID:0060885, MONDO:Lexical, OMIM:154020, Orphanet:34528]
synonym: "hypomagnesemia 2, renal" RELATED [MONDO:Lexical, OMIM:154020]
synonym: "isolated autosomal dominant hypomagnesemia" EXACT [Orphanet:34528]
synonym: "isolated renal magnesium wasting" EXACT [Orphanet:34528]
synonym: "magnesium loss, isolated renal" RELATED [OMIM:154020]
synonym: "magnesium wasting, renal" RELATED [OMIM:154020]
synonym: "primary hypomagnesemia caused by mutation in FXYD2" EXACT [MONDO:design_pattern]
synonym: "renal hypomagnesemia type 2" EXACT [DOID:0060885, MONDORULE:1, Orphanet:34528]
xref: DOID:0060885 {source="MONDO:equivalentTo"}
xref: GARD:3350 {source="MONDO:GARD"}
xref: ICD10CM:E83.4 {source="DOID:0060885", source="Orphanet:34528", source="Orphanet:34528/attributed", source="Orphanet:34528/ntbt"}
xref: MEDGEN:320542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537152 {source="MONDO:equivalentTo"}
xref: OMIM:154020 {source="MONDO:equivalentTo", source="DOID:0060885", source="Orphanet:34528", source="Orphanet:34528/e"}
xref: Orphanet:34528 {source="OMIM:154020", source="MONDO:equivalentTo", source="DOID:0060885"}
xref: SCTID:725393000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835171 {source="MEDGEN:320542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017625 {source="Orphanet:34528"} ! familial primary hypomagnesemia with hypocalcuria
is_a: MONDO:0018100 {source="DOID:0060885", source="MONDO:Redundant", source="OMIM:154020", source="Orphanet:34528/inferred"} ! familial primary hypomagnesemia
intersection_of: MONDO:0018100 ! familial primary hypomagnesemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4026 ! FXYD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4026 {source="MONDO:mim2gene_medgen"} ! FXYD2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2" xsd:anyURI {source="GARD:0003350"}

[Term]
id: MONDO:0007938
name: 46,XY sex reversal 4
def: "Sex reversal in an individual associated with a 9p24.3 deletion." [NCIT:C132270]
subset: gard_rare {source="GARD:15083", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion" RELATED [OMIM:154230]
synonym: "46,XY SEX reversal 4" RELATED [OMIM:154230]
synonym: "46,XY sex reversal 4" EXACT [MONDO:Lexical, OMIM:154230]
synonym: "46,XY Sex reversal type 4" EXACT [MONDORULE:1, OMIM:154230]
synonym: "46XY sex reversal 4, Isolated cases" EXACT [OMIM:154230, OMIM:genemap2]
synonym: "chromosome 9P24.3 deletion syndrome" RELATED [OMIM:154230]
synonym: "SRXY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154230]
xref: DOID:0111771 {source="MONDO:equivalentTo"}
xref: GARD:15083 {source="MONDO:GARD"}
xref: MEDGEN:416704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567887 {source="MONDO:equivalentTo"}
xref: NCIT:C132270 {source="MONDO:equivalentTo"}
xref: OMIM:154230 {source="MONDO:equivalentTo"}
xref: Orphanet:242 {source="OMIM:154230"}
xref: Orphanet:251510 {source="OMIM:154230"}
xref: UMLS:C2752149 {source="MEDGEN:416704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010765 {source="MESH:C567887", source="OMIM:154230", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis
is_a: MONDO:0020040 {source="MESH:C567887/inferred", source="MONDO:Redundant", source="NCIT:C132270"} ! 46,XY disorder of sex development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007939
name: malignant hyperthermia, susceptibility to, 2
subset: predisposition
synonym: "malignant hyperpyrexia susceptibility type 2" RELATED [GARD:0003364, MESH:C535695]
synonym: "malignant hyperthermia susceptibility 2" EXACT [OMIM:154275, OMIM:genemap2]
synonym: "malignant hyperthermia susceptibility type 2" RELATED [GARD:0003364]
synonym: "malignant hyperthermia, susceptibility to, 2" EXACT [MESH:C535695, OMIM:154275]
synonym: "malignant hyperthermia, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:154275]
synonym: "MHS2" RELATED ABBREVIATION [GARD:0003364, MESH:C535695]
synonym: "Mhs2" RELATED [OMIM:154275]
xref: MEDGEN:419301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535695 {source="MONDO:equivalentTo"}
xref: OMIM:154275 {source="MONDO:equivalentTo", source="GARD:0003364"}
xref: Orphanet:423 {source="OMIM:154275", source="GARD:0003364"}
xref: UMLS:C2930981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419301"}
is_a: MONDO:0800188 {source="DC-OMIM:154275", source="MESH:C535695", source="OMIM:154275"} ! malignant hyperthermia, susceptibility to
relationship: predisposes_towards MONDO:0018493 {source="OMIM:154275"} ! malignant hyperthermia of anesthesia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2" xsd:anyURI {source="GARD:0003364"}

[Term]
id: MONDO:0007940
name: malignant hyperthermia, susceptibility to, 3
subset: predisposition
synonym: "malignant hyperpyrexia susceptibility type 3" RELATED [GARD:0003365, MESH:C535696]
synonym: "malignant hyperthermia susceptibility 3" EXACT [OMIM:154276, OMIM:genemap2]
synonym: "malignant hyperthermia susceptibility type 3" RELATED [GARD:0003365]
synonym: "malignant hyperthermia, susceptibility to, 3" EXACT [MESH:C535696, OMIM:154276]
synonym: "malignant hyperthermia, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:154276]
synonym: "MHS3" RELATED ABBREVIATION [GARD:0003365, MESH:C535696]
synonym: "Mhs3" RELATED [OMIM:154276]
xref: MEDGEN:418956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535696 {source="MONDO:equivalentTo"}
xref: OMIM:154276 {source="GARD:0003365", source="MONDO:equivalentTo"}
xref: Orphanet:423 {source="GARD:0003365", source="OMIM:154276"}
xref: UMLS:C2930982 {source="MEDGEN:418956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800188 {source="DC-OMIM:154276", source="MESH:C535696", source="OMIM:154276"} ! malignant hyperthermia, susceptibility to
relationship: predisposes_towards MONDO:0018493 {source="OMIM:154276"} ! malignant hyperthermia of anesthesia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3" xsd:anyURI {source="GARD:0003365"}

[Term]
id: MONDO:0007941
name: malocclusion due to protuberant upper front teeth
synonym: "malocclusion due to protuberant upper front teeth" EXACT [OMIM:154300]
xref: MEDGEN:331917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:154300 {source="MONDO:equivalentTo"}
xref: UMLS:C1835159 {source="MEDGEN:331917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007942
name: Mammastatin
synonym: "Mammastatin" EXACT [OMIM:154370]
xref: MEDGEN:854535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C060120 {source="MONDO:equivalentTo"}
xref: OMIM:154370 {source="MONDO:equivalentTo"}
xref: UMLS:C3887696 {source="MEDGEN:854535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007943
name: Nager acrofacial dysostosis
def: "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." [Orphanet:245]
subset: gard_rare {source="GARD:498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1487"}
subset: ordo_disorder {source="Orphanet:245"}
subset: ordo_malformation_syndrome {source="Orphanet:245"}
subset: orphanet_rare {source="Orphanet:245"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrofacial dysostosis 1, Nager type" EXACT [DOID:5768, MONDO:Lexical, OMIM:154400]
synonym: "AFD" RELATED ABBREVIATION [DOID:5768]
synonym: "AFD, Nager type" RELATED [OMIM:154400]
synonym: "AFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154400]
synonym: "mandibulofacial dysostosis with preaxial limb anomalies" EXACT [Orphanet:245]
synonym: "mandibulofacial dysostosis, Treacher Collins type, with limb anomalies" RELATED [OMIM:154400]
synonym: "NAFD" EXACT ABBREVIATION [Orphanet:245]
synonym: "Nager acrofacial dysostosis" EXACT CLINGEN_LABEL [OMIM:154400, Orphanet:245]
synonym: "Nager acrofacial dysostosis syndrome" EXACT [GARD:0000498]
synonym: "Nager Syndrome" EXACT [NORD:1487]
synonym: "Nager syndrome" EXACT [DOID:5768, OMIM:154400]
synonym: "preaxial acrodysostosis" EXACT [Orphanet:245]
synonym: "preaxial acrofacial dysostosis" RELATED [DOID:5768]
synonym: "preaxial manibulofacial dysostosis" RELATED [DOID:5768]
synonym: "split hand deformity-mandibulofacial dysostosis" RELATED [GARD:0000498]
xref: DOID:5768 {source="MONDO:equivalentTo"}
xref: GARD:498 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:245/attributed", source="Orphanet:245/ntbt", source="Orphanet:245"}
xref: MEDGEN:120519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538184 {source="Orphanet:245/e", source="MONDO:equivalentTo", source="Orphanet:245"}
xref: NCIT:C35795 {source="DOID:5768"}
xref: NORD:1487 {source="MONDO:NORD"}
xref: OMIM:154400 {source="Orphanet:245/e", source="DOID:5768", source="MONDO:equivalentTo", source="Orphanet:245"}
xref: Orphanet:245 {source="MONDO:equivalentTo", source="OMIM:154400"}
xref: SCTID:35520007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265245 {source="MEDGEN:120519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:245"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018237 {source="DC-OMIM:154400", source="DOID:5768", source="Orphanet:245"} ! acrofacial dysostosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10771 {source="MONDO:mim2gene_medgen"} ! SF3B4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis" xsd:anyURI {source="GARD:0000498"}

[Term]
id: MONDO:0007944
name: Treacher Collins syndrome 1
def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mandibulofacial dysostosis" RELATED [OMIM:154500]
synonym: "TCOF1 Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154500]
synonym: "Treacher Collins syndrome" RELATED [OMIM:154500]
synonym: "TREACHER COLLINS syndrome 1" RELATED [MONDO:Lexical, OMIM:154500]
synonym: "Treacher Collins syndrome type 1" EXACT [MONDORULE:1, OMIM:154500]
synonym: "Treacher Collins-Franceschetti syndrome" RELATED [OMIM:154500]
synonym: "Treacher-Collins syndrome 1" EXACT CLINGEN_LABEL []
synonym: "Treacher-Collins syndrome caused by mutation in TCOF1" EXACT [MONDO:design_pattern]
xref: DOID:0080789 {source="MONDO:equivalentTo"}
xref: OMIM:154500 {source="Orphanet:861/e", source="MONDO:equivalentTo", source="Orphanet:861"}
is_a: MONDO:0002457 {source="DC-OMIM:154500", source="MONDO:Redundant", source="OMIM:154500"} ! Treacher-Collins syndrome
intersection_of: MONDO:0002457 ! Treacher-Collins syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11654 ! TCOF1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:154500"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11654 {source="MONDO:mim2gene_medgen"} ! TCOF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007945
name: mannose 6-phosphate receptor recognition defect, Lebanese type
synonym: "mannose 6-phosphate receptor recognition defect, Lebanese type" EXACT [OMIM:154570]
synonym: "phosphodiester glycoside deficiency" RELATED [OMIM:154570]
xref: MEDGEN:331911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563601 {source="MONDO:equivalentTo"}
xref: OMIM:154570 {source="MONDO:equivalentTo"}
xref: UMLS:C1835134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331911"}
is_a: MONDO:0003847 {source="MESH:C563601/inferred"} ! hereditary disease

[Term]
id: MONDO:0007946
name: jaw-winking syndrome
def: "Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis." [Orphanet:91412]
subset: gard_rare {source="GARD:6972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1401"}
subset: ordo_disorder {source="Orphanet:91412"}
subset: orphanet_rare {source="Orphanet:91412"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abnormal innervation syndrome of eyelid" RELATED [DOID:560, ICD9CM:374.43]
synonym: "familial Marcus Gunn phenomenon (subtype)" RELATED [GARD:0006972]
synonym: "jaw-blinking" EXACT [DOID:560]
synonym: "jaw-winking" EXACT [OMIM:154600]
synonym: "jaw-winking syndrome" EXACT [Orphanet:91412]
synonym: "mandibulo-palpebral synkinesis-ptosis syndrome" EXACT [Orphanet:91412]
synonym: "Marcus Gunn Phenomenon" EXACT [NORD:1401]
synonym: "Marcus Gunn phenomenon" EXACT [OMIM:154600]
synonym: "Marcus Gunn syndrome" EXACT [GARD:0006972]
synonym: "Marcus-Gunn phenomenon" EXACT [Orphanet:91412]
synonym: "Marcus-Gunn syndrome" EXACT [DOID:560]
synonym: "Maxillopalpebral synkinesis" EXACT [OMIM:154600]
synonym: "pterygoid-levator synkinesis" EXACT [DOID:560]
xref: DOID:560 {source="MONDO:equivalentTo"}
xref: GARD:6972 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:91412/inclusion", source="Orphanet:91412", source="DOID:560", source="Orphanet:91412/ntbt"}
xref: icd11.foundation:590216180 {source="MONDO:equivalentTo", source="Orphanet:91412", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:374.43 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:560"}
xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10064583 {source="Orphanet:91412", source="Orphanet:91412/e"}
xref: MEDGEN:120582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535908 {source="MONDO:equivalentTo", source="DOID:560"}
xref: NORD:1401 {source="MONDO:NORD"}
xref: OMIM:154600 {source="MONDO:equivalentTo", source="Orphanet:91412", source="DOID:560", source="Orphanet:91412/e"}
xref: Orphanet:91412 {source="MONDO:equivalentTo", source="OMIM:154600"}
xref: SCTID:193949006 {source="DOID:560"}
xref: SCTID:204089009 {source="DOID:560"}
xref: SCTID:204090000 {source="DOID:560"}
xref: SCTID:36603006 {source="DOID:560"}
xref: SCTID:5127009 {source="MONDO:equivalentTo", source="DOID:560"}
xref: UMLS:C0266521 {source="MEDGEN:120582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003569 {source="DOID:560"} ! cranial nerve neuropathy
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0007947
name: Marfan syndrome
def: "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." [https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16535", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1403"}
subset: ordo_disorder {source="Orphanet:558"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:284963"}
subset: orphanet_rare {source="Orphanet:558"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern {source="https://github.com/monarch-initiative/monarch-disease-ontology/issues/101"}
subset: rare
synonym: "Marfan syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:154700]
synonym: "Marfan syndrome type 1" EXACT [Orphanet:284963]
synonym: "Marfan syndrome, type 1" EXACT [OMIM:154700]
synonym: "Marfan's syndrome" EXACT [DOID:14323]
synonym: "MFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:154700, Orphanet:558]
synonym: "MFS1" EXACT ABBREVIATION [Orphanet:284963]
xref: DOID:14323 {source="MONDO:equivalentTo"}
xref: GARD:16535 {source="MONDO:GARD"}
xref: ICD10CM:Q87.4 {source="Orphanet:558", source="Orphanet:284963/attributed", source="Orphanet:284963/ntbt", source="Orphanet:558/specific", source="Orphanet:284963", source="Orphanet:558/e", source="DOID:14323"}
xref: ICD10CM:Q87.40 {source="DOID:14323"}
xref: icd11.foundation:236564145 {source="Orphanet:558", source="MONDO:equivalentTo"}
xref: ICD9:759.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14323"}
xref: MedDRA:10026829 {source="Orphanet:558", source="Orphanet:558/e"}
xref: MEDGEN:44287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008382 {source="Orphanet:558", source="MONDO:equivalentTo", source="Orphanet:558/e", source="DOID:14323"}
xref: NANDO:1200644 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200968 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34807 {source="MONDO:equivalentTo", source="DOID:14323"}
xref: NORD:1403 {source="MONDO:NORD"}
xref: OMIM:154700 {source="Orphanet:558/btnt", source="Orphanet:284963/e", source="Orphanet:558", source="MONDO:equivalentTo", source="Orphanet:284963", source="DOID:14323"}
xref: Orphanet:284963 {source="MONDO:equivalentTo", source="OMIM:154700"}
xref: Orphanet:558 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:154700"}
xref: SCTID:157024004 {source="DOID:14323"}
xref: SCTID:157033002 {source="DOID:14323"}
xref: SCTID:19346006 {source="MONDO:equivalentTo", source="DOID:14323"}
xref: SCTID:268359006 {source="DOID:14323"}
xref: UMLS:C0024796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44287"}
is_a: MONDO:0000426 {source="DOID:14323", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34807"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0017310 {source="Orphanet:284963/inferred", source="Orphanet:558"} ! Marfan and Marfan-related disorder
relationship: excluded_subClassOf MONDO:0017311 {source="Orphanet:284963/inferred", source="Orphanet:558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare disease with thoracic aortic aneurysm and aortic dissection
relationship: excluded_subClassOf MONDO:0019755 {source="MONDO:0015332-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0020208 {source="Orphanet:284963/inferred", source="Orphanet:558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic myopia
relationship: excluded_subClassOf MONDO:0020211 {source="Orphanet:284963/inferred", source="Orphanet:558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic keratoconus
relationship: excluded_subClassOf MONDO:0020236 {source="Orphanet:558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens position anomaly
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:154700", source="Orphanet:284963", source="Orphanet:558"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1
property_value: excluded_synonym "Contractural arachnodactyly" xsd:string {source="GARD:0006975"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3155" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome" xsd:anyURI {source="GARD:0006975"}

[Term]
id: MONDO:0007948
name: marfanoid hypermobility syndrome
synonym: "marfanoid hypermobility syndrome" EXACT [OMIM:154750]
xref: MEDGEN:120632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531742 {source="MONDO:equivalentTo"}
xref: OMIM:154750 {source="MONDO:equivalentTo"}
xref: UMLS:C0268365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120632"}
is_a: MONDO:0003847 {source="MESH:C531742/inferred"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0007947 {source="MESH:C531742", source="https://orcid.org/0000-0001-5208-3432"} ! Marfan syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome" xsd:anyURI {source="GARD:0003387"}

[Term]
id: MONDO:0007949
name: Marshall syndrome
def: "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." [Orphanet:560]
subset: gard_rare {source="GARD:6984", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1407", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:560"}
subset: ordo_malformation_syndrome {source="Orphanet:560"}
subset: orphanet_rare {source="Orphanet:560"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, myopia, cataract, saddle nose-Marshall type" RELATED [GARD:0006984]
synonym: "Marshall syndrome" EXACT [MONDO:Lexical, OMIM:154780]
synonym: "MRSHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154780]
xref: DOID:0111510 {source="MONDO:equivalentTo"}
xref: GARD:6984 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:560", source="Orphanet:560/attributed", source="Orphanet:560/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536025 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="Orphanet:560"}
xref: NCIT:C128115 {source="MONDO:equivalentTo"}
xref: NORD:1407 {source="MONDO:NORD"}
xref: OMIM:154780 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="Orphanet:560"}
xref: Orphanet:560 {source="MONDO:equivalentTo", source="OMIM:154780"}
xref: SCTID:33410002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265235 {source="MEDGEN:82694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C128115"} ! syndromic disease
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0015161 {source="Orphanet:560"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016761 {source="Orphanet:560"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019287 {source="Orphanet:560"} ! ectodermal dysplasia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0007950
name: mastocytosis
def: "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." [NCIT:C84269]
subset: disease_grouping
subset: gard_rare {source="GARD:6987", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1408", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98292"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MAST cell disease" RELATED [OMIM:154800]
synonym: "Mast cell disease" EXACT [NCIT:C84269]
synonym: "mast cell hyperplasia" EXACT [DOID:350]
synonym: "mastocytosis" EXACT [NCIT:C84269, OMIM:154800]
synonym: "urticaria pigmentosa" RELATED [OMIM:154800]
xref: DOID:350 {source="MONDO:equivalentTo"}
xref: EFO:0009001 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6987 {source="MONDO:GARD"}
xref: ICD10CM:C96.2 {source="Orphanet:98292", source="Orphanet:98292/btnt"}
xref: ICD10CM:D47.0 {source="Orphanet:98292", source="Orphanet:98292/btnt"}
xref: ICD10CM:Q82.2 {source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/btnt"}
xref: ICD10WHO:Q82.2 {source="MONDO:equivalentTo"}
xref: icd11.foundation:691643472 {source="MONDO:equivalentTo", source="Orphanet:98292"}
xref: MedDRA:10026891 {source="Orphanet:98292", source="Orphanet:98292/e"}
xref: MEDGEN:9902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008415 {source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/e"}
xref: NCIT:C84269 {source="MONDO:equivalentTo", source="DOID:350"}
xref: NORD:1408 {source="MONDO:NORD"}
xref: ONCOTREE:MCD {source="MONDO:equivalentTo"}
xref: Orphanet:79457 {source="OMIM:154800"}
xref: Orphanet:98292 {source="MONDO:equivalentTo", source="OMIM:154800"}
xref: SCTID:125541005 {source="DOID:350"}
xref: SCTID:397007003 {source="DOID:350"}
xref: SCTID:78745000 {source="DOID:350"}
xref: UMLS:C0024899 {source="MEDGEN:9902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002724 {source="NCIT:C84269"} ! mast cell neoplasm
is_a: MONDO:0004805 {source="DOID:350"} ! leukocyte disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6342 {source="MONDO:mim2gene_medgen"} ! KIT

[Term]
id: MONDO:0007951
name: masticatory muscles, hypertrophy of
synonym: "masseter muscle Hypertrophy" RELATED [OMIM:154850]
synonym: "masticatory muscles, hypertrophy of" EXACT [OMIM:154850]
xref: MEDGEN:322570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563600 {source="MONDO:equivalentTo"}
xref: OMIM:154850 {source="MONDO:equivalentTo"}
xref: SCTID:699649006 {source="MONDO:equivalentTo"}
xref: UMLS:C1835093 {source="MEDGEN:322570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007952
name: maxillofacial dysostosis
synonym: "maxillofacial dysostosis" EXACT [OMIM:155000]
xref: MEDGEN:320517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563599 {source="MONDO:equivalentTo"}
xref: OMIM:155000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320517"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis" xsd:anyURI {source="GARD:0006991"}

[Term]
id: MONDO:0007953
name: Binder syndrome
def: "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." [Orphanet:1248]
subset: gard_rare {source="GARD:6992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1248"}
subset: ordo_malformation_syndrome {source="Orphanet:1248"}
subset: orphanet_rare {source="Orphanet:1248"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Binder syndrome" EXACT [Orphanet:1248]
synonym: "binder syndrome" EXACT [OMIM:155050]
synonym: "binder type maxillonasal dysplasia" EXACT [DOID:14683]
synonym: "Maxillonasal dysostosis" EXACT [Orphanet:1248]
synonym: "maxillonasal dysplasia" RELATED [Orphanet:1248]
synonym: "MAXILLONASAL dysplasia, BINDER type" RELATED [OMIM:155050]
xref: DOID:14683 {source="MONDO:equivalentTo"}
xref: GARD:6992 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:1248", source="Orphanet:1248/attributed", source="Orphanet:1248/ntbt"}
xref: MEDGEN:66318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536036 {source="MONDO:equivalentTo", source="DOID:14683"}
xref: OMIM:155050 {source="MONDO:equivalentTo", source="Orphanet:1248", source="DOID:14683", source="Orphanet:1248/e"}
xref: Orphanet:1248 {source="OMIM:155050", source="MONDO:equivalentTo"}
xref: SCTID:715985008 {source="MONDO:equivalentTo"}
xref: UMLS:C0220692 {source="MEDGEN:66318", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002232 {source="DOID:14683"} ! nasal cavity disorder
is_a: MONDO:0015161 {source="Orphanet:1248"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1248", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations

[Term]
id: MONDO:0007954
name: obsolete May-Hegglin anomaly
xref: NANDO:1200893 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100193 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200127 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200654 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1376" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015912

[Term]
id: MONDO:0007955
name: Meckel diverticulum
def: "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Meckel diverticulum" EXACT [DOID:9487, NCIT:C12264, OMIM:155140]
synonym: "Meckel's diverticulum" EXACT [EFO:1001036]
synonym: "persistent vitelline duct" EXACT [DOID:9487]
xref: DOID:9487 {source="MONDO:equivalentTo", source="EFO:1001036"}
xref: EFO:1001036 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q43.0 {source="EFO:1001036", source="DOID:9487"}
xref: ICD9:751.0 {source="MONDO:equivalentTo", source="EFO:1001036", source="MONDO:i2s", source="DOID:9487"}
xref: MedDRA:10027055 {source="EFO:1001036"}
xref: MEDGEN:9917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008467 {source="MONDO:equivalentTo", source="EFO:1001036", source="DOID:9487"}
xref: NCIT:C12264 {source="MONDO:finding", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:9487"}
xref: OMIM:155140 {source="MONDO:equivalentTo", source="DOID:9487"}
xref: SCTID:127962001 {source="DOID:9487"}
xref: SCTID:156955000 {source="DOID:9487"}
xref: SCTID:204685004 {source="DOID:9487"}
xref: SCTID:204686003 {source="DOID:9487"}
xref: SCTID:204689005 {source="DOID:9487"}
xref: SCTID:204690001 {source="DOID:9487"}
xref: SCTID:253775007 {source="DOID:9487"}
xref: SCTID:264256006 {source="DOID:9487"}
xref: SCTID:37373007 {source="MONDO:equivalentTo", source="EFO:1001036", source="DOID:9487"}
xref: UMLS:C0025037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9917"}
is_a: MONDO:0003847 {source="EFO:1001036"} ! hereditary disease

[Term]
id: MONDO:0007956
name: Pai syndrome
def: "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." [Orphanet:1993]
subset: gard_rare {source="GARD:3439", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1993"}
subset: ordo_malformation_syndrome {source="Orphanet:1993"}
subset: orphanet_rare {source="Orphanet:1993"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa" RELATED [OMIM:155145]
synonym: "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa" RELATED [OMIM:155145]
synonym: "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome" EXACT [GARD:0003439, Orphanet:1993]
synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" RELATED [GARD:0003439]
synonym: "Pai syndrome" EXACT [GARD:0003439, OMIM:155145]
xref: GARD:3439 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1993/attributed", source="Orphanet:1993/ntbt", source="Orphanet:1993"}
xref: MEDGEN:371972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536135 {source="MONDO:equivalentTo"}
xref: OMIM:155145 {source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439", source="Orphanet:1993/e"}
xref: Orphanet:1993 {source="MONDO:equivalentTo", source="GARD:0003439", source="OMIM:155145"}
xref: SCTID:722201004 {source="MONDO:equivalentTo"}
xref: UMLS:C1835087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371972"}
is_a: MONDO:0016643 {source="Orphanet:1993"} ! frontonasal dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa" xsd:anyURI {source="GARD:0003439"}

[Term]
id: MONDO:0007957
name: mediosternal depigmentation line
synonym: "mediosternal depigmentation line" EXACT [OMIM:155200]
xref: MEDGEN:371971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:155200 {source="MONDO:equivalentTo"}
xref: UMLS:C1835085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371971"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007958
name: familial medullary thyroid carcinoma
def: "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:16901", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99361"}
subset: orphanet_rare {source="Orphanet:99361"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial medullary thyroid carcinoma" EXACT CLINGEN_LABEL []
synonym: "familial MTC" EXACT [Orphanet:99361]
synonym: "Fmtc" RELATED [OMIM:155240]
synonym: "hereditary medullary thyroid gland carcinoma" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary thyroid medullary carcinoma" EXACT [MONDO:patterns/hereditary]
synonym: "medullary thyroid carcinoma" BROAD [OMIM:155240, OMIM:genemap2]
synonym: "MTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155240]
synonym: "Mtc1" RELATED [OMIM:155240]
synonym: "thyroid carcinoma, familial medullary" EXACT [DOID:0050547, MONDO:Lexical, OMIM:155240]
xref: DOID:0050547 {source="MONDO:equivalentTo"}
xref: GARD:16901 {source="MONDO:GARD"}
xref: ICD10CM:C73 {source="Orphanet:99361/attributed", source="Orphanet:99361/ntbt", source="Orphanet:99361"}
xref: MEDGEN:322311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536911 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="Orphanet:99361"}
xref: OMIM:155240 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="DOID:0050547", source="Orphanet:99361"}
xref: Orphanet:653 {source="OMIM:155240"}
xref: Orphanet:99361 {source="OMIM:155240", source="MONDO:equivalentTo"}
xref: UMLS:C1833921 {source="MEDGEN:322311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015277 {source="DOID:0050547", source="MONDO:Redundant"} ! medullary thyroid gland carcinoma
is_a: MONDO:0019003 {source="Orphanet:99361"} ! multiple endocrine neoplasia type 2
intersection_of: MONDO:0015277 ! medullary thyroid gland carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007959
name: medulloblastoma
def: "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." [NCIT:C3222]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1422"}
subset: ordo_disorder {source="Orphanet:616"}
subset: orphanet_rare {source="Orphanet:616"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain medulloblastoma" EXACT [DOID:0050902]
synonym: "cerebellar medulloblastoma" EXACT [DOID:0060104]
synonym: "cerebellum embryonal neoplasm" EXACT [MONDO:patterns/location]
synonym: "CNS PNET" RELATED [DOID:0050902, NCIT:C5398]
synonym: "CPNET" RELATED ABBREVIATION [DOID:0050902]
synonym: "infratentorial primitive neuroectodermal tumor" RELATED [DOID:0050902]
synonym: "infratentorial primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "localised primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "localized primitive neuroectodermal tumor" RELATED [DOID:0050902]
synonym: "MDB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155255]
synonym: "medulloblastoma" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C3222, OMIM:155255]
synonym: "medulloblastoma with extensive nodularity" RELATED [OMIM:155255]
synonym: "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation" EXACT [OMIM:155255, OMIM:genemap2]
synonym: "medulloblastoma, desmoplastic" RELATED [OMIM:155255]
synonym: "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation" EXACT [OMIM:155255, OMIM:genemap2]
synonym: "medulloblastoma, malignant" EXACT [NCIT:C3222]
synonym: "medulloblastoma, somatic" EXACT [OMIM:155255, OMIM:genemap2]
synonym: "medulloblastomas" EXACT [NCIT:C3222]
xref: DOID:0050902 {source="EFO:0002939", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0060104 {source="MONDO:equivalentTo"}
xref: EFO:0002939 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7005 {source="MONDO:GARD"}
xref: ICD10CM:C71.6 {source="Orphanet:616", source="Orphanet:616/ntbt"}
xref: icd11.foundation:290815825 {source="MONDO:equivalentTo", source="Orphanet:616", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9470/3 {source="NCIT:C3222"}
xref: MedDRA:10027107 {source="Orphanet:616", source="Orphanet:616/e"}
xref: MEDGEN:7517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008527 {source="EFO:0002939", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902", source="Orphanet:616/e"}
xref: MESH:D018242 {source="DOID:0050902"}
xref: NANDO:2200090 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3222 {source="EFO:0002939", source="MONDO:equivalentTo", source="DOID:0050902"}
xref: NORD:1422 {source="MONDO:NORD"}
xref: OMIM:155255 {source="EFO:0002939", source="MONDO:equivalentTo", source="Orphanet:616", source="DOID:0050902", source="Orphanet:616/e"}
xref: ONCOTREE:MBL {source="MONDO:equivalentTo"}
xref: Orphanet:251858 {source="OMIM:155255"}
xref: Orphanet:251863 {source="OMIM:155255"}
xref: Orphanet:251867 {source="OMIM:155255"}
xref: Orphanet:616 {source="MONDO:equivalentTo", source="OMIM:155255"}
xref: SCTID:189921005 {source="DOID:0050902"}
xref: SCTID:189925001 {source="DOID:0050902"}
xref: SCTID:189933000 {source="DOID:0050902"}
xref: SCTID:39781001 {source="DOID:0050902"}
xref: SCTID:443333004 {source="EFO:0002939", source="MONDO:equivalentTo", source="DOID:0050902"}
xref: SCTID:55045006 {source="DOID:0050902"}
xref: SCTID:699028006 {source="DOID:0050902"}
xref: SCTID:83217000 {source="EFO:0002939", source="DOID:0050902"}
xref: UMLS:C0025149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7517"}
is_a: MONDO:0002913 {source="DOID:0060104", source="MONDO:Redundant", source="NCIT:C3222/inferred"} ! cerebellar neoplasm
is_a: MONDO:0005564 {source="EFO:0002939", source="MONDO:Redundant", source="NCIT:C3222/inferred", source="ONCOTREE:MBL"} ! embryonal neoplasm
intersection_of: MONDO:0005564 ! embryonal neoplasm
intersection_of: disease_has_location UBERON:0002037 ! cerebellum
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma" xsd:anyURI {source="GARD:0007005"}

[Term]
id: MONDO:0007960
name: obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome
xref: NANDO:1200459 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200947 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3154" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100354

[Term]
id: MONDO:0007961
name: megalencephaly, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "megalencephaly, autosomal dominant" EXACT [OMIM:155350]
xref: MEDGEN:812057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:155350 {source="MONDO:equivalentTo"}
xref: Orphanet:2477 {source="OMIM:155350"}
xref: UMLS:C3805727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:812057"}
is_a: MONDO:0016608 {source="Orphanet:2477/btnt"} ! megalencephaly

[Term]
id: MONDO:0007962
name: megalodactyly
def: "A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances." [NCIT:C48900]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrodactyly" RELATED [OMIM:155500]
synonym: "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" EXACT [OMIM:155500, OMIM:genemap2]
synonym: "Megalodactyly" EXACT [OMIM:155500]
xref: MEDGEN:78564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562546 {source="MONDO:equivalentTo"}
xref: NCIT:C48900 {source="MONDO:equivalentTo"}
xref: OMIM:155500 {source="MONDO:equivalentTo"}
xref: SCTID:48449000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78564"}
is_a: MONDO:0003847 {source="OMIM:155500"} ! hereditary disease
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5210" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0007963
name: melanoma, cutaneous malignant, susceptibility to, 1
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "B-K Mole syndrome" RELATED [OMIM:155600]
synonym: "CMM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155600]
synonym: "dysplastic Nevus syndrome, hereditary" RELATED [OMIM:155600]
synonym: "familial atypical Mole-malignant melanoma syndrome" RELATED [OMIM:155600]
synonym: "melanoma, cutaneous malignant" RELATED [OMIM:155600]
synonym: "melanoma, cutaneous malignant, 1" EXACT [OMIM:155600, OMIM:genemap2]
synonym: "melanoma, cutaneous malignant, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:155600]
synonym: "melanoma, familial" RELATED [OMIM:155600]
synonym: "melanoma, malignant" RELATED [OMIM:155600]
synonym: "melanoma, malignant, somatic" EXACT [OMIM:155600, OMIM:genemap2]
xref: MEDGEN:320506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:155600 {source="MONDO:equivalentTo"}
xref: Orphanet:404560 {source="OMIM:155600"}
xref: Orphanet:618 {source="OMIM:155600"}
xref: SCTID:254819008 {source="MONDO:equivalentTo"}
xref: UMLS:C1835047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320506"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 ! PTEN
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018453 {source="Orphanet:404560/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial atypical multiple mole melanoma syndrome
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:155600", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0007964
name: melanoma, cutaneous malignant, susceptibility to, 2
def: "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)" [MESH:D004416]
subset: nord_rare {source="MONDO:NORD"}
subset: predisposition
subset: rare
synonym: "Atypical Mole syndrome" EXACT [NCIT:C7584]
synonym: "B-K Mole syndrome" EXACT [NCIT:C7584]
synonym: "CMM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155601]
synonym: "dysplastic nevus syndrome" EXACT [NCIT:C7584]
synonym: "familial dysplastic nevi" EXACT [NCIT:C7584]
synonym: "melanoma, cutaneous malignant, 2" EXACT [OMIM:155601, OMIM:genemap2]
synonym: "melanoma, cutaneous malignant, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:155601]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:155601]
synonym: "susceptibility to cutaneous malignant melanoma 2" RELATED [OMIM:155601]
xref: DOID:10041 {source="MONDO:equivalentTo"}
xref: MEDGEN:331891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004416 {source="MONDO:equivalentTo", source="DOID:10041"}
xref: NCIT:C7584 {source="MONDO:equivalentTo"}
xref: OMIM:155601 {source="MONDO:equivalentTo", source="DOID:10041"}
xref: Orphanet:618 {source="OMIM:155601"}
xref: UMLS:C1835044 {source="MEDGEN:331891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:155601"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 ! CDKN2A
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0000426 {source="DOID:10041", source="OMIM:155601", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant disease
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:155601", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:155601"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 {source="MONDO:mim2gene_medgen"} ! CDKN2A
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0007965
name: melanoma, malignant familial intraocular
subset: gard_rare {source="GARD:18576", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "melanoma, malignant familial intraocular" EXACT [OMIM:155700]
xref: GARD:18576 {source="MONDO:GARD"}
xref: MEDGEN:322559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563596 {source="MONDO:equivalentTo"}
xref: OMIM:155700 {source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="OMIM:155700"}
xref: UMLS:C1835043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322559"}
is_a: MONDO:0018961 {source="Orphanet:618/btnt"} ! familial melanoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0007966
name: susceptibility to uveal melanoma
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0006486 ! uveal melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2656" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5511" xsd:anyURI

[Term]
id: MONDO:0007967
name: melanoma and neural system tumor syndrome
def: "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)." [Orphanet:252206]
subset: gard_rare {source="GARD:8468", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:252206"}
subset: orphanet_rare {source="Orphanet:252206"}
subset: rare
synonym: "melanoma and neural system tumor syndrome" EXACT [OMIM:155755]
synonym: "melanoma astrocytoma syndrome" RELATED [GARD:0008468]
synonym: "melanoma-astrocytoma syndrome" EXACT [OMIM:155755, Orphanet:252206]
xref: DOID:0111511 {source="MONDO:equivalentTo"}
xref: GARD:8468 {source="MONDO:GARD"}
xref: MEDGEN:331890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536149 {source="MONDO:equivalentTo"}
xref: OMIM:155755 {source="Orphanet:252206/e", source="MONDO:equivalentTo", source="Orphanet:252206"}
xref: Orphanet:252206 {source="MONDO:equivalentTo", source="OMIM:155755"}
xref: SCTID:717968005 {source="MONDO:equivalentTo"}
xref: UMLS:C1835042 {source="MEDGEN:331890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015356 {source="Orphanet:252206"} ! hereditary neoplastic syndrome
relationship: disease_has_feature MONDO:0005105 {source="MESH:C536149"} ! melanoma
relationship: disease_has_feature MONDO:0005872 {source="MESH:C536149"} ! nervous system cancer
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 {source="MONDO:mim2gene_medgen"} ! CDKN2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0007968
name: melanoma tumor antigen Gp90
synonym: "Class 1 unique tumor antigen of melanoma" RELATED [OMIM:155770]
synonym: "Class 1 unique tumour antigen of melanoma" RELATED OMO:0003005 []
synonym: "melanoma tumor antigen Gp90" EXACT [OMIM:155770]
xref: MEDGEN:322558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:155770 {source="MONDO:equivalentTo"}
xref: UMLS:C1835040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322558"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007969
name: Melkersson-Rosenthal syndrome
def: "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." [Orphanet:2483]
subset: gard_rare {source="GARD:7010", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1429", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2483"}
subset: ordo_malformation_syndrome {source="Orphanet:2483"}
subset: orphanet_rare {source="Orphanet:2483"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cheilitis Granulomatosa" RELATED [GARD:0007010]
synonym: "cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [DOID:1761]
synonym: "Melkersson syndrome" RELATED [OMIM:155900]
synonym: "Melkersson's syndrome" EXACT [DOID:1761]
synonym: "Melkersson-Rosenthal syndrome" EXACT [OMIM:155900]
synonym: "Mros" RELATED [OMIM:155900]
synonym: "MRS" RELATED ABBREVIATION [GARD:0007010]
xref: DOID:1761 {source="MONDO:equivalentTo", source="EFO:1001039"}
xref: EFO:1001039 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7010 {source="MONDO:GARD"}
xref: ICD10CM:G51.2 {source="Orphanet:2483/e", source="DOID:1761", source="Orphanet:2483"}
xref: MedDRA:10027166 {source="Orphanet:2483/e", source="EFO:1001039", source="Orphanet:2483"}
xref: MEDGEN:6291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008556 {source="Orphanet:2483/e", source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039", source="Orphanet:2483"}
xref: NCIT:C84886 {source="DOID:1761", source="MONDO:equivalentTo", source="EFO:1001039"}
xref: NORD:1429 {source="MONDO:NORD"}
xref: OMIM:155900 {source="Orphanet:2483/e", source="DOID:1761", source="MONDO:equivalentTo", source="Orphanet:2483"}
xref: Orphanet:2483 {source="MONDO:equivalentTo", source="OMIM:155900"}
xref: SCTID:215617000 {source="DOID:1761"}
xref: SCTID:2511001 {source="DOID:1761"}
xref: SCTID:37770007 {source="DOID:1761"}
xref: UMLS:C0025235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6291"}
is_a: MONDO:0002098 {source="DOID:1761", source="MESH:D008556"} ! facial nerve disorder
is_a: MONDO:0002102 {source="DOID:1761"} ! cheilitis
is_a: MONDO:0002254 {source="NCIT:C84886"} ! syndromic disease
is_a: MONDO:0005492 {source="Orphanet:2483"} ! urticaria
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019298"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome" xsd:anyURI {source="GARD:0007010"}

[Term]
id: MONDO:0007970
name: melorheostosis
def: "Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities." [Orphanet:2485]
subset: gard_rare {source="GARD:9474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1431"}
subset: ordo_disorder {source="Orphanet:2485"}
subset: ordo_malformation_syndrome {source="Orphanet:2485"}
subset: orphanet_rare {source="Orphanet:2485"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mel" RELATED [OMIM:155950]
synonym: "melorheostosis, isolated" RELATED [OMIM:155950]
synonym: "melorheostosis, isolated, somatic mosaic" EXACT [OMIM:155950, OMIM:genemap2]
xref: DOID:4253 {source="MONDO:equivalentTo"}
xref: GARD:9474 {source="MONDO:GARD"}
xref: ICD10CM:M85.8 {source="Orphanet:2485", source="Orphanet:2485/index", source="Orphanet:2485/ntbt"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10050284 {source="Orphanet:2485", source="Orphanet:2485/e"}
xref: MEDGEN:460981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008557 {source="Orphanet:2485", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="DOID:4253"}
xref: NANDO:2201364 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84887 {source="MONDO:equivalentTo", source="DOID:4253"}
xref: NORD:1431 {source="MONDO:NORD"}
xref: OMIM:155950 {source="Orphanet:2485", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="DOID:4253"}
xref: Orphanet:2485 {source="MONDO:equivalentTo", source="OMIM:155950"}
xref: SCTID:240173003 {source="DOID:4253"}
xref: SCTID:44697002 {source="MONDO:equivalentTo", source="DOID:4253"}
xref: UMLS:C3149631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:460981"}
is_a: MONDO:0017198 {source="Orphanet:2485"} ! osteopetrosis
relationship: disease_has_feature HP:0011001 ! Increased bone mineral density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28887 {source="MONDO:mim2gene_medgen"} ! LEMD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9474/melorheostosis" xsd:anyURI {source="GARD:0009474"}

[Term]
id: MONDO:0007971
name: delayed membranous cranial ossification
def: "Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development." [Orphanet:3034]
subset: gard_rare {source="GARD:1727", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3034"}
subset: ordo_malformation_syndrome {source="Orphanet:3034"}
subset: orphanet_rare {source="Orphanet:3034"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gonzales-del Angel syndrome" EXACT [Orphanet:3034]
synonym: "membranous cranial ossification, delayed" RELATED [OMIM:155980]
xref: GARD:1727 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:3034", source="Orphanet:3034/attributed", source="Orphanet:3034/ntbt"}
xref: MEDGEN:320502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563592 {source="MONDO:equivalentTo"}
xref: OMIM:155980 {source="Orphanet:3034", source="MONDO:equivalentTo", source="Orphanet:3034/e"}
xref: Orphanet:3034 {source="MONDO:equivalentTo", source="OMIM:155980"}
xref: SCTID:715524004 {source="MONDO:equivalentTo"}
xref: UMLS:C1835030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320502"}
is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification" xsd:anyURI {source="GARD:0001727"}

[Term]
id: MONDO:0007972
name: Meniere disease
def: "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops." [MESH:D008575]
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Meniere disease" EXACT [DOID:9849, OMIM:156000]
synonym: "Meniere's disease" RELATED [DOID:9849]
synonym: "Mnire's vertigo" EXACT [DOID:9849]
synonym: "otogenic vertigo" EXACT [DOID:9849]
xref: DOID:9849 {source="EFO:0006862", source="MONDO:equivalentTo"}
xref: EFO:0006862 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H81.0 {source="DOID:9849"}
xref: ICD10CM:H81.09 {source="DOID:9849"}
xref: ICD9:386.0 {source="DOID:9849"}
xref: ICD9:386.00 {source="DOID:9849", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:7530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008575 {source="EFO:0006862", source="DOID:9849", source="MONDO:equivalentTo"}
xref: NCIT:C185243 {source="MONDO:equivalentTo"}
xref: OMIM:156000 {source="DOID:9849", source="MONDO:equivalentTo"}
xref: Orphanet:45360 {source="MONDO:equivalentObsolete", source="OMIM:156000"}
xref: SCTID:13445001 {source="DOID:9849", source="MONDO:equivalentTo"}
xref: SCTID:155235002 {source="DOID:9849"}
xref: SCTID:194346003 {source="DOID:9849"}
xref: SCTID:194347007 {source="DOID:9849"}
xref: SCTID:194352002 {source="DOID:9849"}
xref: UMLS:C0025281 {source="MEDGEN:7530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0006744 {source="DOID:9849", source="MESH:D008575"} ! endolymphatic hydrops

[Term]
id: MONDO:0007973
name: mental and growth retardation with amblyopia
synonym: "mental and growth retardation with amblyopia" EXACT [OMIM:156190]
xref: MEDGEN:331885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563591 {source="MONDO:equivalentTo"}
xref: OMIM:156190 {source="MONDO:equivalentTo"}
xref: UMLS:C1835028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331885"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature MONDO:0001020 ! amblyopia

[Term]
id: MONDO:0007974
name: intellectual disability, autosomal dominant 1
def: "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." [NCIT:C141424]
subset: gard_rare {source="GARD:18623", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 1" EXACT [DOID:0070031]
synonym: "autosomal dominant mental retardation 1" EXACT DEPRECATED [DOID:0070031]
synonym: "autosomal dominant non-syndromic intellectual disability 1" RELATED [DOID:0070031]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5" EXACT [MONDO:design_pattern]
synonym: "chromosome 2Q23.1 deletion syndrome" RELATED [OMIM:156200]
synonym: "intellectual disability, autosomal dominant 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:156200]
synonym: "intellectual disability, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:156200]
synonym: "MBD5 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:156200]
synonym: "mental retardation, autosomal dominant type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:156200]
synonym: "MRD1" EXACT ABBREVIATION [DOID:0070031, MONDO:Lexical, OMIM:156200]
xref: DOID:0070031 {source="MONDO:equivalentTo"}
xref: GARD:18623 {source="MONDO:GARD"}
xref: MEDGEN:409857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566947 {source="MONDO:equivalentTo"}
xref: NCIT:C141424 {source="MONDO:equivalentTo"}
xref: OMIM:156200 {source="DOID:0070031", source="MONDO:equivalentTo"}
xref: Orphanet:228402 {source="MONDO:relatedTo", source="OMIM:156200"}
xref: UMLS:C1969562 {source="MEDGEN:409857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:156200"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20444 ! MBD5
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20444 {source="MONDO:mim2gene_medgen"} ! MBD5

[Term]
id: MONDO:0007975
name: meralgia paraesthetica, familial
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "meralgia paraesthetica, familial" EXACT [OMIM:156220]
xref: MEDGEN:322555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563590 {source="MONDO:equivalentTo"}
xref: OMIM:156220 {source="MONDO:equivalentTo"}
xref: UMLS:C1835026 {source="MEDGEN:322555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0023757 ! meralgia paresthetica

[Term]
id: MONDO:0007976
name: mesomelic dwarfism of hypoplastic tibia and radius type
synonym: "mesomelic dwarfism of hypoplastic tibia and radius type" EXACT [OMIM:156230]
xref: MEDGEN:322550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563589 {source="MONDO:equivalentTo"}
xref: OMIM:156230 {source="MONDO:equivalentTo"}
xref: UMLS:C1835010 {source="MEDGEN:322550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563589/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7313/mesomelic-dwarfism-of-hypoplastic-tibia-and-radius-type" xsd:anyURI {source="GARD:0007313"}

[Term]
id: MONDO:0007977
name: mesomelic dysplasia, Kantaputra type
def: "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." [Orphanet:1836]
subset: gard_rare {source="GARD:3074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1836"}
subset: ordo_malformation_syndrome {source="Orphanet:1836"}
subset: orphanet_rare {source="Orphanet:1836"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kantaputra mesomelic dysplasia" EXACT [Orphanet:1836]
synonym: "MDK" EXACT ABBREVIATION [Orphanet:1836]
synonym: "Mdk" RELATED [OMIM:156232]
synonym: "mesomelic dysplasia Kantaputra type" RELATED [GARD:0003074]
synonym: "mesomelic dysplasia Thai type" RELATED [GARD:0003074]
synonym: "mesomelic dysplasia with ankle carpal and tarsal synostosis" RELATED [GARD:0003074]
synonym: "mesomelic dysplasia with ankle, carpal, and tarsal synostosis" RELATED [OMIM:156232]
synonym: "mesomelic dysplasia, Kantaputra type" EXACT [MONDO:Lexical, OMIM:156232]
synonym: "mesomelic dysplasia, Thai type" EXACT [OMIM:156232, Orphanet:1836]
synonym: "MMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156232]
xref: GARD:3074 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:1836/attributed", source="Orphanet:1836/ntbt", source="Orphanet:1836"}
xref: MEDGEN:331880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535547 {source="Orphanet:1836/e", source="MONDO:equivalentTo", source="Orphanet:1836"}
xref: OMIM:156232 {source="Orphanet:1836/e", source="MONDO:equivalentTo", source="Orphanet:1836"}
xref: Orphanet:1836 {source="MONDO:equivalentTo", source="OMIM:156232"}
xref: SCTID:719397009 {source="MONDO:equivalentTo"}
xref: UMLS:C1835009 {source="MEDGEN:331880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:15264287", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0023599 {source="PMID:15264287", source="https://orcid.org/0009-0001-6494-4831"} ! mesomelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type" xsd:anyURI {source="GARD:0003074"}

[Term]
id: MONDO:0007978
name: obsolete malignant mesothelioma
is_obsolete: true
replaced_by: MONDO:0006292

[Term]
id: MONDO:0007979
name: metachondromatosis
def: "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." [Orphanet:2499]
subset: gard_rare {source="GARD:3560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2499"}
subset: ordo_malformation_syndrome {source="Orphanet:2499"}
subset: orphanet_rare {source="Orphanet:2499"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "METACHONDROMATOSIS" RELATED ABBREVIATION [OMIM:156250]
synonym: "metachondromatosis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:156250]
synonym: "METCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156250]
xref: DOID:0111512 {source="MONDO:equivalentTo"}
xref: GARD:3560 {source="MONDO:GARD"}
xref: ICD10CM:Q78.4 {source="Orphanet:2499/attributed", source="Orphanet:2499/ntbt", source="Orphanet:2499"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562938 {source="MONDO:equivalentTo"}
xref: OMIM:156250 {source="Orphanet:2499", source="MONDO:equivalentTo", source="Orphanet:2499/e"}
xref: Orphanet:2499 {source="OMIM:156250", source="MONDO:equivalentTo"}
xref: SCTID:205481009 {source="MONDO:equivalentTo"}
xref: UMLS:C0410530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98377"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="OMIM:156250"} ! hereditary disease
is_a: MONDO:0005381 {source="https://orcid.org/0000-0002-4142-7153"} ! bone disorder
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2499", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="MONDO:mim2gene_medgen"} ! PTPN11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis" xsd:anyURI {source="GARD:0003560"}

[Term]
id: MONDO:0007980
name: metachromasia of fibroblasts
synonym: "metachromasia of fibroblasts" EXACT [OMIM:156300]
xref: MEDGEN:322549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:156300 {source="MONDO:equivalentTo"}
xref: UMLS:C1835008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322549"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007981
name: obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A
synonym: "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A" EXACT [OMIM:156310]
synonym: "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type A" EXACT [MONDORULE:1, OMIM:156310]
xref: MESH:C563587 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:156310 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:512 {source="OMIM:156310"}
relationship: excluded_subClassOf MONDO:0018868 {source="MESH:C563587", source="Orphanet:512/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! metachromatic leukodystrophy
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6055" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0007982
name: metaphyseal chondrodysplasia, Jansen type
def: "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." [Orphanet:33067]
subset: gard_rare {source="GARD:79", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1307"}
subset: ordo_disorder {source="Orphanet:33067"}
subset: orphanet_rare {source="Orphanet:33067"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Jansen disease" EXACT [DOID:0080020]
synonym: "Jansen metaphyseal chondrodysplasia" EXACT [DOID:0080020]
synonym: "Jansen metaphyseal dysostosis" EXACT [DOID:0080020]
synonym: "Jansen Type Metaphyseal Chondrodysplasia" EXACT [NORD:1307]
synonym: "Jansen type metaphyseal chondrodysplasia" EXACT [GARD:0000079]
synonym: "Jansen's metaphyseal chondrodysplasia" EXACT [DOID:0080020]
synonym: "metaphyseal chondrodysplasia murk Jansen type" EXACT [GARD:0000079]
synonym: "metaphyseal chondrodysplasia, Jansen type" EXACT [OMIM:156400]
synonym: "metaphyseal chondrodysplasia, murk Jansen type" EXACT [OMIM:156400]
synonym: "murk Jansen type metaphyseal chondrodysplasia" EXACT [DOID:0080020, GARD:0000079]
xref: DOID:0080020 {source="MONDO:equivalentTo"}
xref: GARD:79 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:33067/attributed", source="Orphanet:33067/ntbt", source="Orphanet:33067"}
xref: MEDGEN:120529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537564 {source="Orphanet:33067/e", source="MONDO:equivalentTo", source="Orphanet:33067"}
xref: NCIT:C131868 {source="MONDO:equivalentTo"}
xref: NORD:1307 {source="MONDO:NORD"}
xref: OMIM:156400 {source="GARD:0000079", source="Orphanet:33067/e", source="MONDO:equivalentTo", source="Orphanet:33067"}
xref: Orphanet:33067 {source="GARD:0000079", source="MONDO:equivalentTo", source="OMIM:156400"}
xref: SCTID:24629003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265295 {source="MEDGEN:120529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="PMID:31977144", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="PMID:31977144", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: disease_has_feature HP:0008873 ! Disproportionate short-limb short stature
relationship: disease_has_feature HP:0100255 ! Metaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0009943 {source="DOID:0080020", source="https://orcid.org/0000-0001-5208-3432"} ! Pyle disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9608 {source="MONDO:mim2gene_medgen"} ! PTH1R
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007983
name: Schmid metaphyseal chondrodysplasia
def: "Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." [Orphanet:174]
subset: gard_rare {source="GARD:7029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1444"}
subset: ordo_disorder {source="Orphanet:174"}
subset: orphanet_rare {source="Orphanet:174"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [DOID:0080021]
synonym: "MCDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:156500]
synonym: "metaphyseal chondrodysplasia Schmid type" EXACT [GARD:0007029]
synonym: "Metaphyseal Chondrodysplasia, Schmid Type" EXACT [NORD:1444]
synonym: "metaphyseal chondrodysplasia, Schmid type" EXACT [MONDO:Lexical, OMIM:156500]
synonym: "Schmid type metaphyseal dysplasia" EXACT [DOID:0080021]
synonym: "spondylometaphyseal dysplasia, Japanese type" EXACT [OMIM:156500]
xref: DOID:0080021 {source="MONDO:equivalentTo"}
xref: GARD:7029 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:174/attributed", source="Orphanet:174/ntbt", source="Orphanet:174"}
xref: MEDGEN:78550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537352 {source="Orphanet:174/e", source="MONDO:equivalentTo", source="Orphanet:174"}
xref: NORD:1444 {source="MONDO:NORD"}
xref: OMIM:156500 {source="Orphanet:174/e", source="DOID:0080021", source="MONDO:equivalentTo", source="Orphanet:174"}
xref: Orphanet:174 {source="MONDO:equivalentTo", source="OMIM:156500"}
xref: SCTID:29248006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78550"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="PMID:31633898", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="PMID:31633898", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: disease_has_feature HP:0003510 ! Severe short stature
relationship: disease_has_feature HP:0100255 ! Metaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:156500", source="https://orcid.org/0000-0001-5208-3432"} ! metaphyseal chondrodysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2185 {source="MONDO:mim2gene_medgen"} ! COL10A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0007984
name: metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
def: "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." [Orphanet:2504]
subset: gard_rare {source="GARD:3568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2504"}
subset: ordo_malformation_syndrome {source="Orphanet:2504"}
subset: orphanet_rare {source="Orphanet:2504"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDMHB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156510]
synonym: "metaphyseal dysplasia maxillary hypoplasia brachydactyly" RELATED [GARD:0003568]
synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" RELATED [MONDO:Lexical, OMIM:156510]
xref: DOID:0111513 {source="MONDO:equivalentTo"}
xref: GARD:3568 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:2504", source="Orphanet:2504/attributed", source="Orphanet:2504/ntbt"}
xref: MEDGEN:762788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:156510 {source="GARD:0003568", source="MONDO:equivalentTo", source="Orphanet:2504", source="Orphanet:2504/e"}
xref: Orphanet:2504 {source="GARD:0003568", source="MONDO:equivalentTo", source="OMIM:156510"}
xref: UMLS:C3549874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762788"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:29891876", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10472 {source="MONDO:mim2gene_medgen"} ! RUNX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly" xsd:anyURI {source="GARD:0003568"}

[Term]
id: MONDO:0007985
name: metatarsus varus, type 1
synonym: "metatarsus varus, type I" RELATED [OMIM:156520]
xref: MEDGEN:331870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563585 {source="MONDO:equivalentTo"}
xref: OMIM:156520 {source="MONDO:equivalentTo"}
xref: UMLS:C1834968 {source="MEDGEN:331870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007986
name: metatropic dysplasia
def: "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." [Orphanet:2635]
subset: gard_rare {source="GARD:3571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1445"}
subset: ordo_disorder {source="Orphanet:2635"}
subset: orphanet_rare {source="Orphanet:2635"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Metatropic dwarfism" EXACT [OMIM:156530, Orphanet:2635]
synonym: "metatropic dysplasia" EXACT CLINGEN_LABEL [OMIM:156530]
synonym: "Metatropic Dysplasia I" EXACT [NORD:1445]
synonym: "Metatropic dysplasia, nonlethal dominant" RELATED [GARD:0003571]
xref: DOID:0111514 {source="MONDO:equivalentTo"}
xref: GARD:3571 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:2635", source="Orphanet:2635/attributed", source="Orphanet:2635/ntbt"}
xref: MEDGEN:82699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537356 {source="MONDO:equivalentTo", source="Orphanet:2635", source="Orphanet:2635/e"}
xref: NCIT:C175209 {source="MONDO:equivalentTo"}
xref: NORD:1445 {source="MONDO:NORD"}
xref: OMIM:156530 {source="MONDO:equivalentTo", source="Orphanet:2635", source="Orphanet:2635/e"}
xref: Orphanet:2635 {source="MONDO:equivalentTo", source="OMIM:156530"}
xref: SCTID:22764001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265281 {source="MEDGEN:82699", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="Orphanet:2635"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0018240 {source="Orphanet:2635", source="PMID:31633310"} ! TRPV4-related bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia" xsd:anyURI {source="GARD:0003571"}

[Term]
id: MONDO:0007987
name: Kniest dysplasia
def: "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." [Orphanet:485]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6841", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1339"}
subset: ordo_disorder {source="Orphanet:485"}
subset: orphanet_rare {source="Orphanet:485"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kniest dysplasia" EXACT [OMIM:156550]
xref: DOID:0080045 {source="MONDO:equivalentTo"}
xref: GARD:6841 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:485/attributed", source="Orphanet:485/ntbt", source="Orphanet:485"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537207 {source="Orphanet:485/e", source="MONDO:equivalentTo", source="Orphanet:485"}
xref: NANDO:2201350 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125594 {source="MONDO:equivalentTo"}
xref: NORD:1339 {source="MONDO:NORD"}
xref: OMIM:156550 {source="Orphanet:485/e", source="MONDO:equivalentTo", source="Orphanet:485"}
xref: Orphanet:485 {source="OMIM:156550", source="MONDO:equivalentTo"}
xref: SCTID:53974002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265279 {source="MEDGEN:75559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="DOID:0080045", source="MESH:C537207"} ! osteochondrodysplasia
is_a: MONDO:0016761 {source="Orphanet:485"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0016763 {source="OMIM:156550"} ! spondylometaphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:485", source="PMID:31633310"} ! type 2 collagenopathy
relationship: disease_has_feature HP:0000272 ! Malar flattening
relationship: disease_has_feature HP:0003510 ! Severe short stature
relationship: disease_has_feature HP:0003521 ! Disproportionate short-trunk short stature
relationship: disease_has_feature MONDO:0004603 ! collagenopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen", source="OMIM:156550"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia" xsd:anyURI {source="GARD:0006841"}

[Term]
id: MONDO:0007988
name: autosomal dominant primary microcephaly
def: "Autosomal dominant form of microcephaly (disease)." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:3605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:2514"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2514"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant microcephaly" RELATED [DOID:14725, GARD:0003605]
synonym: "autosomal dominant primary microcephaly" EXACT [GARD:0003605]
synonym: "microcephaly (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "microcephaly autosomal dominant" RELATED [GARD:0003605]
synonym: "microcephaly with autosomal dominant inheritance" RELATED [GARD:0003605]
synonym: "microcephaly, autosomal dominant" RELATED [OMIM:156580]
xref: DOID:14725 {source="MONDO:equivalentTo"}
xref: GARD:3605 {source="MONDO:GARD"}
xref: ICD10CM:Q02 {source="Orphanet:2514", source="Orphanet:2514/attributed", source="Orphanet:2514/ntbt"}
xref: MEDGEN:66319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537323 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"}
xref: OMIM:156580 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"}
xref: Orphanet:2514 {source="OMIM:156580", source="MONDO:equivalentTo"}
xref: UMLS:C0220693 {source="MEDGEN:66319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:14725", source="MONDO:Entailed", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015160 {source="Orphanet:2514"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016056 {source="Orphanet:2514"} ! isolated congenital microcephaly
intersection_of: MONDO:0016056 ! isolated congenital microcephaly
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:156580", source="Orphanet:2514"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3738" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant" xsd:anyURI {source="GARD:0003605"}

[Term]
id: MONDO:0007989
name: congenital microcoria
def: "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma." [Orphanet:566]
subset: gard_rare {source="GARD:3635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:566"}
subset: ordo_malformation_syndrome {source="Orphanet:566"}
subset: orphanet_rare {source="Orphanet:566"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 13Q32 deletion syndrome" RELATED [OMIM:156600]
synonym: "congenital miosis" EXACT [Orphanet:566]
synonym: "Mcor" RELATED [OMIM:156600]
synonym: "microcoria, congenital" RELATED [OMIM:156600]
synonym: "miosis, congenital" RELATED [OMIM:156600]
synonym: "pinhole pupils" RELATED [GARD:0003635]
xref: GARD:3635 {source="MONDO:GARD"}
xref: MEDGEN:227002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537550 {source="Orphanet:566", source="MONDO:equivalentTo", source="Orphanet:566/e"}
xref: OMIM:156600 {source="Orphanet:566", source="MONDO:equivalentTo", source="Orphanet:566/e"}
xref: Orphanet:566 {source="MONDO:equivalentTo", source="OMIM:156600"}
xref: SCTID:400962005 {source="MONDO:equivalentTo"}
xref: UMLS:C1303009 {source="MEDGEN:227002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011119 {source="Orphanet:566"} ! iridogoniodysgenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital" xsd:anyURI {source="GARD:0003635"}

[Term]
id: MONDO:0007990
name: multiple benign circumferential skin creases on limbs
subset: gard_rare {source="GARD:3589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2505"}
subset: orphanet_rare {source="Orphanet:2505"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCSF" EXACT ABBREVIATION [Orphanet:2505]
synonym: "circumferential skin creases, Kunze type" EXACT [Orphanet:2505]
synonym: "congenital circumferential skin folds" EXACT [Orphanet:2505]
synonym: "CSCSC" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "Kunze Riehm syndrome" RELATED [GARD:0003589]
synonym: "Kunze-Riehm syndrome" EXACT [Orphanet:2505]
synonym: "Michelin tire baby syndrome" RELATED [OMIM:156610]
synonym: "Michelin tyre baby syndrome" RELATED OMO:0003005 []
synonym: "skin creases, multiple benign ring-shaped, of limbs" RELATED [OMIM:156610]
xref: DOID:0112241 {source="MONDO:equivalentTo"}
xref: GARD:3589 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2505/attributed", source="Orphanet:2505/ntbt", source="Orphanet:2505"}
xref: MEDGEN:96881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537575 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"}
xref: Orphanet:2505 {source="MONDO:equivalentTo", source="OMIM:156610"}
xref: UMLS:C0473586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96881"}
is_a: MONDO:0005093 {source="Orphanet:2505", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0007991
name: microcephaly-deafness-intellectual disability syndrome
def: "Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." [Orphanet:2533]
subset: gard_rare {source="GARD:230", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2533"}
subset: ordo_malformation_syndrome {source="Orphanet:2533"}
subset: orphanet_rare {source="Orphanet:2533"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kawashima Tsuji syndrome" RELATED [GARD:0000230]
synonym: "Kawashima-Tsuji syndrome" EXACT [Orphanet:2533]
synonym: "microcephaly deafness syndrome" RELATED [GARD:0000230]
synonym: "microcephaly-deafness syndrome" RELATED [OMIM:156620]
synonym: "syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies" RELATED [GARD:0000230]
synonym: "syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies" RELATED DEPRECATED [GARD:0000230]
xref: GARD:230 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2533/attributed", source="Orphanet:2533/ntbt", source="Orphanet:2533"}
xref: MEDGEN:163208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537326 {source="MONDO:equivalentTo"}
xref: OMIM:156620 {source="Orphanet:2533", source="MONDO:equivalentTo", source="Orphanet:2533/e"}
xref: Orphanet:2533 {source="MONDO:equivalentTo", source="OMIM:156620"}
xref: SCTID:716112005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796062 {source="MEDGEN:163208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2533"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2533", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0007992
name: microcornea-glaucoma-absent frontal sinuses syndrome
def: "Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." [Orphanet:2536]
subset: gard_rare {source="GARD:3637", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2536"}
subset: ordo_malformation_syndrome {source="Orphanet:2536"}
subset: orphanet_rare {source="Orphanet:2536"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary microcornea, glaucoma, and absent frontal sinuses" RELATED [GARD:0003637]
synonym: "microcornea, glaucoma, and absent frontal sinuses" RELATED [OMIM:156700]
xref: GARD:3637 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:2536", source="Orphanet:2536/attributed", source="Orphanet:2536/ntbt"}
xref: MEDGEN:331860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537552 {source="MONDO:equivalentTo", source="Orphanet:2536", source="Orphanet:2536/e"}
xref: OMIM:156700 {source="MONDO:equivalentTo", source="Orphanet:2536", source="Orphanet:2536/e"}
xref: Orphanet:2536 {source="MONDO:equivalentTo", source="OMIM:156700"}
xref: UMLS:C1834935 {source="MONDO:equivalentTo", source="MEDGEN:331860", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder

[Term]
id: MONDO:0007993
name: microgastria-limb reduction defect syndrome
def: "This syndrome is characterized by the association of microgastria with a limb reduction defect." [Orphanet:2538]
subset: gard_rare {source="GARD:3640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2538"}
subset: ordo_malformation_syndrome {source="Orphanet:2538"}
subset: orphanet_rare {source="Orphanet:2538"}
subset: rare
synonym: "congenital microgastria and limb reduction defects" RELATED [GARD:0003640]
synonym: "microgastria limb reduction defect" RELATED [GARD:0003640]
synonym: "microgastria-limb reduction defects association" RELATED [MONDO:Lexical, OMIM:156810]
synonym: "MLRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156810]
xref: GARD:3640 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2538/ntbt", source="Orphanet:2538"}
xref: MEDGEN:322532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537554 {source="Orphanet:2538/e", source="MONDO:equivalentTo", source="Orphanet:2538"}
xref: OMIM:156810 {source="Orphanet:2538/e", source="MONDO:equivalentTo", source="Orphanet:2538"}
xref: Orphanet:2538 {source="MONDO:equivalentTo", source="OMIM:156810"}
xref: UMLS:C1834929 {source="MONDO:equivalentTo", source="MEDGEN:322532", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:2538"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

[Term]
id: MONDO:0007994
name: micromelic bone dysplasia with cloverleaf skull
subset: gard_rare {source="GARD:1404", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "micromelic bone dysplasia with cloverleaf skull" EXACT [OMIM:156830]
xref: GARD:1404 {source="MONDO:GARD"}
xref: MEDGEN:322531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536429 {source="MONDO:equivalentTo"}
xref: OMIM:156830 {source="MONDO:equivalentTo"}
xref: Orphanet:2655 {source="OMIM:156830"}
xref: Orphanet:93274 {source="OMIM:156830"}
xref: UMLS:C1834928 {source="MEDGEN:322531", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008547 {source="Orphanet:93274/btnt"} ! thanatophoric dysplasia type 2

[Term]
id: MONDO:0007995
name: microphthalmia, isolated, with cataract 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract, congenital, with microphthalmia" RELATED [OMIM:156850]
synonym: "congenital cataract with microphthalmia" RELATED [GARD:0009610]
synonym: "MCOPCT1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:156850]
synonym: "microphthalmia with cataract 1" RELATED [GARD:0009610]
synonym: "microphthalmia, isolated, with cataract 1" EXACT [MONDO:Lexical, OMIM:156850]
xref: MEDGEN:320475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563582 {source="MONDO:equivalentTo"}
xref: OMIM:156850 {source="MONDO:equivalentTo"}
xref: Orphanet:2542 {source="OMIM:156850"}
xref: UMLS:C1834919 {source="MONDO:equivalentTo", source="MEDGEN:320475", source="MONDO:MEDGEN"}
is_a: MONDO:0000169 {source="DC-OMIM:156850"} ! microphthalmia, isolated, with cataract
is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome

[Term]
id: MONDO:0007996
name: microphthalmia, isolated, with corectopia
synonym: "MCOPCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156900]
synonym: "microphthalmia and corectopia" RELATED [OMIM:156900]
synonym: "microphthalmia with myopia and corectopia" RELATED [OMIM:156900]
synonym: "microphthalmia, isolated, with corectopia" EXACT [MONDO:Lexical, OMIM:156900]
xref: MEDGEN:320474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563581 {source="MONDO:equivalentTo"}
xref: OMIM:156900 {source="MONDO:equivalentTo"}
xref: UMLS:C1834918 {source="MEDGEN:320474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0007997
name: microspherophakia with hernia
synonym: "microspherophakia with hernia" EXACT [OMIM:157150]
xref: MEDGEN:322521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537468 {source="MONDO:equivalentTo"}
xref: OMIM:157150 {source="MONDO:equivalentTo"}
xref: UMLS:C1834881 {source="MONDO:equivalentTo", source="MEDGEN:322521", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia" xsd:anyURI {source="GARD:0009462"}

[Term]
id: MONDO:0007998
name: microspherophakia-metaphyseal dysplasia syndrome
def: "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." [Orphanet:2551]
subset: gard_rare {source="GARD:5481", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2551"}
subset: ordo_malformation_syndrome {source="Orphanet:2551"}
subset: orphanet_rare {source="Orphanet:2551"}
subset: rare
synonym: "dominantly inherited bone dysplasia with severe eye involvement" RELATED [GARD:0005481]
synonym: "microspherophakia-metaphyseal dysplasia" RELATED [OMIM:157151]
synonym: "Verloes Van Maldergem Marneffe syndrome" RELATED [GARD:0005481]
synonym: "Verloes-Van Maldergem-de Marneffe syndrome" EXACT [Orphanet:2551]
xref: GARD:5481 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2551", source="Orphanet:2551/attributed", source="Orphanet:2551/ntbt"}
xref: MEDGEN:322520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536540 {source="MONDO:equivalentTo"}
xref: OMIM:157151 {source="Orphanet:2551", source="MONDO:equivalentTo", source="Orphanet:2551/e"}
xref: Orphanet:2551 {source="OMIM:157151", source="MONDO:equivalentTo"}
xref: UMLS:C1834880 {source="MEDGEN:322520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="GARD:0005481", source="OMIM:157151"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0020235 {source="Orphanet:2551", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens size anomaly

[Term]
id: MONDO:0007999
name: holoprosencephaly 2
def: "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene." [NCIT:C74995]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "holoprosencephaly 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:157170]
synonym: "holoprosencephaly caused by mutation in SIX3" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 2" EXACT [DOID:0110872, MONDORULE:1, OMIM:157170]
synonym: "HPE2" EXACT ABBREVIATION [DOID:0110872, MONDO:Lexical, OMIM:157170]
synonym: "SIX3 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110872 {source="MONDO:equivalentTo"}
xref: MEDGEN:322517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563579 {source="MONDO:equivalentTo"}
xref: NCIT:C74995 {source="MONDO:equivalentTo"}
xref: OMIM:157170 {source="MONDO:equivalentTo", source="DOID:0110872"}
xref: Orphanet:2162 {source="OMIM:157170"}
xref: UMLS:C1834877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322517"}
is_a: MONDO:0016296 {source="DOID:0110872", source="MESH:C563579", source="MONDO:Redundant", source="NCIT:C74995", source="OMIM:157170", source="Orphanet:2162/btnt"} ! holoprosencephaly
intersection_of: MONDO:0016296 ! holoprosencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10889 ! SIX3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10889 {source="MONDO:mim2gene_medgen"} ! SIX3

[Term]
id: MONDO:0008000
name: migraine with or without aura, susceptibility to, 1
subset: predisposition
synonym: "Mgau" RELATED [OMIM:157300]
synonym: "Mgr1" RELATED [OMIM:157300]
synonym: "migraine" RELATED [OMIM:157300]
synonym: "migraine with or without aura, susceptibility to, 1" EXACT [OMIM:157300]
synonym: "migraine with or without aura, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:157300]
synonym: "migraine without aura, susceptibility to" EXACT [OMIM:157300, OMIM:genemap2]
synonym: "migraine, resistance to" EXACT [OMIM:157300, OMIM:genemap2]
synonym: "migraine, susceptibility to" EXACT [OMIM:157300, OMIM:genemap2]
xref: ICD9:346.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:346.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:854348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:157300 {source="MONDO:equivalentTo"}
xref: SCTID:37796009 {source="MONDO:equivalentTo"}
xref: UMLS:C3887485 {source="MEDGEN:854348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 {source="DC-OMIM:157300", source="OMIM:157300/inferred"} ! migraine with or without aura, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008001
name: milia, multiple eruptive
synonym: "MEM" RELATED ABBREVIATION [OMIM:157400]
synonym: "milia, multiple eruptive" EXACT [OMIM:157400]
xref: MEDGEN:83356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562823 {source="MONDO:equivalentTo"}
xref: OMIM:157400 {source="MONDO:equivalentTo"}
xref: SCTID:238749001 {source="MONDO:equivalentTo"}
xref: UMLS:C0343079 {source="MEDGEN:83356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008002
name: mirror movements 1
def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15086", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bimanual synergia" RELATED [OMIM:157600]
synonym: "DCC familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial congenital mirror movements caused by mutation in DCC" EXACT [MONDO:design_pattern]
synonym: "mirror movements 1" EXACT [MONDO:Lexical, OMIM:157600]
synonym: "mirror movements 1 and/Or agenesis of the corpus callosum" RELATED [OMIM:157600]
synonym: "mirror movements type 1" EXACT [MONDORULE:1, OMIM:157600]
synonym: "mirror movements, congenital" RELATED [OMIM:157600]
synonym: "MRMV1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157600]
xref: GARD:15086 {source="MONDO:GARD"}
xref: MEDGEN:320461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:157600 {source="MONDO:equivalentTo"}
xref: Orphanet:238722 {source="OMIM:157600"}
xref: UMLS:C1834870 {source="MEDGEN:320461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100515 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! mirror movements 1 and/or agenesis of the corpus callosum
intersection_of: MONDO:0016558 ! familial congenital mirror movements
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2701 ! DCC
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0016558 {source="DC-OMIM:157600", source="MONDO:Redundant", source="OMIM:157600", source="Orphanet:238722/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial congenital mirror movements
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2701 {source="MONDO:mim2gene_medgen"} ! DCC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5219" xsd:anyURI

[Term]
id: MONDO:0008003
name: autosomal dominant progressive external ophthalmoplegia
def: "Autosomal dominant form of progressive external ophthalmoplegia." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:16486", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254892"}
subset: orphanet_rare {source="Orphanet:254892"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adPEO" EXACT [Orphanet:254892]
synonym: "PEOA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157640]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:157640]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:157640]
synonym: "progressive external ophthalmoplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:16486 {source="MONDO:GARD"}
xref: ICD10CM:H49.4 {source="Orphanet:254892/attributed", source="Orphanet:254892/ntbt", source="Orphanet:254892"}
xref: MEDGEN:1686757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563575 {source="MONDO:equivalentTo"}
xref: Orphanet:254892 {source="MONDO:equivalentTo", source="OMIM:157640"}
xref: UMLS:C5231255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1686757"}
is_a: MONDO:0000090 {source="DC-OMIM:157640", source="OMIM:157640"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
intersection_of: MONDO:0005181 ! progressive external ophthalmoplegia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0008004
name: familial mitral valve prolapse
def: "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:3687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:741"}
subset: ordo_morphological_anomaly {source="Orphanet:741"}
subset: orphanet_rare {source="Orphanet:741"}
subset: rare
synonym: "hereditary mitral valve prolapse (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "mitral valve prolapse, familial" RELATED [MONDO:Lexical, OMIM:157700]
synonym: "mitral valve prolapse, familial, autosomal dominant" RELATED [GARD:0003687]
synonym: "MVP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157700]
xref: GARD:3687 {source="MONDO:GARD"}
xref: ICD10CM:I34.1 {source="Orphanet:741", source="Orphanet:741/attributed", source="Orphanet:741/ntbt"}
xref: MEDGEN:573696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:157700 {source="MONDO:equivalentTo"}
xref: Orphanet:741 {source="MONDO:equivalentTo", source="OMIM:157700"}
xref: SCTID:233858000 {source="MONDO:equivalentTo"}
xref: UMLS:C0340364 {source="MEDGEN:573696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004910 {source="DC-OMIM:157700", source="MONDO:Redundant", source="OMIM:157700"} ! mitral valve prolapse
is_a: MONDO:0019817 {source="Orphanet:741"} ! congenital mitral valve insufficiency and/or stenosis
intersection_of: MONDO:0004910 ! mitral valve prolapse
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:157700"} ! inherited

[Term]
id: MONDO:0008005
name: cardiospondylocarpofacial syndrome
def: "Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance." [Orphanet:3238]
subset: gard_rare {source="GARD:2362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3238"}
subset: ordo_malformation_syndrome {source="Orphanet:3238"}
subset: orphanet_rare {source="Orphanet:3238"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiospondylocarpofacial syndrome" EXACT [OMIM:157800]
synonym: "congenital heart disease, deafness, and skeletal malformations" RELATED [GARD:0002362]
synonym: "CSCF" RELATED ABBREVIATION [OMIM:157800]
synonym: "Forney Robinson Pascoe syndrome" RELATED [GARD:0002362]
synonym: "Forney syndrome" EXACT [Orphanet:3238]
synonym: "Forney-Robinson-Pascoe syndrome" EXACT [Orphanet:3238]
synonym: "mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones" RELATED [OMIM:157800]
synonym: "mitral regurgitation-deafness-skeletal anomalies syndrome" EXACT [Orphanet:3238]
xref: GARD:2362 {source="MONDO:GARD"}
xref: MEDGEN:444060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563572 {source="MONDO:equivalentTo"}
xref: NCIT:C188216 {source="MONDO:equivalentTo"}
xref: OMIM:157800 {source="MONDO:equivalentTo", source="Orphanet:3238", source="Orphanet:3238/e"}
xref: Orphanet:3238 {source="MONDO:equivalentTo", source="OMIM:157800"}
xref: SCTID:720612000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444060"}
is_a: MONDO:0003847 {source="Orphanet:3238/inferred"} ! hereditary disease
is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6859 {source="MONDO:mim2gene_medgen"} ! MAP3K7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008006
name: Mobius syndrome
def: "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." [Orphanet:570]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:8549", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1453"}
subset: ordo_disorder {source="Orphanet:570"}
subset: orphanet_rare {source="Orphanet:570"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absence or underdevelopment of the 6th and 7th cranial nerves" RELATED [GARD:0008549]
synonym: "congenital facial diplegia" EXACT [Orphanet:570]
synonym: "congenital facial diplegia syndrome" RELATED [GARD:0008549]
synonym: "congenital oculofacial paralysis" RELATED [GARD:0008549]
synonym: "MBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:157900]
synonym: "Mobius syndrome" EXACT [OMIM:157900]
synonym: "Moebius congenital oculofacial paralysis" EXACT [DOID:13501]
synonym: "Moebius sequence" EXACT [OMIM:157900]
synonym: "Moebius Syndrome" EXACT [NORD:1453]
synonym: "Moebius syndrome" EXACT [MONDO:Lexical, OMIM:157900]
synonym: "Moebius syndrome, Isolated cases" EXACT [OMIM:157900, OMIM:genemap2]
synonym: "Möbius syndrome" EXACT [NCIT:C84893, Orphanet:570]
synonym: "oromandibular-limb hypogenesis spectrum" EXACT [DOID:13501]
xref: DOID:13501 {source="EFO:1001046", source="MONDO:equivalentTo"}
xref: GARD:8549 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:570/inclusion", source="Orphanet:570/ntbt", source="Orphanet:570", source="DOID:13501"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10027789 {source="EFO:1001046"}
xref: MedDRA:10030069 {source="Orphanet:570/e", source="Orphanet:570"}
xref: MEDGEN:66357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020331 {source="Orphanet:570/e", source="EFO:1001046", source="MONDO:equivalentTo", source="Orphanet:570", source="DOID:13501"}
xref: NANDO:1200559 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200980 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84893 {source="EFO:1001046", source="MONDO:equivalentTo", source="DOID:13501"}
xref: NORD:1453 {source="MONDO:NORD"}
xref: OMIM:157900 {source="Orphanet:570/e", source="EFO:1001046", source="MONDO:equivalentTo", source="Orphanet:570", source="DOID:13501"}
xref: Orphanet:570 {source="MONDO:equivalentTo", source="OMIM:157900"}
xref: SCTID:393607001 {source="DOID:13501"}
xref: SCTID:89444000 {source="MONDO:equivalentTo", source="DOID:13501"}
xref: UMLS:C0221060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66357"}
is_a: MONDO:0002098 {source="DOID:13501", source="MESH:D020331"} ! facial nerve disorder
is_a: MONDO:0002254 {source="NCIT:C84893"} ! syndromic disease
is_a: MONDO:0015083 {source="Orphanet:570"} ! nuclear oculomotor paralysis
is_a: MONDO:0015160 {source="Orphanet:570"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: disease_has_feature HP:0000486 ! Strabismus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0008007
name: tooth ankylosis
def: "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement." [Orphanet:1077]
subset: gard_rare {source="GARD:701", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1077"}
subset: ordo_malformation_syndrome {source="Orphanet:1077"}
subset: orphanet_rare {source="Orphanet:1077"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abnormal fusion of dental cementum with alveolar bone" RELATED [GARD:0000701]
synonym: "ankylosis (disease) of calcareous tooth" EXACT []
synonym: "ankylosis of teeth" EXACT [DOID:12661, ICD9CM:521.6, OMIM:157950, Orphanet:1077]
synonym: "ankylosis of tooth" EXACT [DOID:12661]
synonym: "calcareous tooth ankylosis (disease)" EXACT [MONDO:patterns/location]
synonym: "dental ankylosis" RELATED [OMIM:157950]
synonym: "molar 1 reinclusion" RELATED [OMIM:157950]
synonym: "molar I reinclusion" RELATED [GARD:0000701]
synonym: "permanent molars, secondary retention OF" RELATED [OMIM:157950]
synonym: "secondary retention of permanent molars" RELATED [GARD:0000701]
xref: DOID:12661 {source="MONDO:equivalentTo", source="EFO:1001215"}
xref: GARD:701 {source="MONDO:GARD"}
xref: ICD10CM:K03.5 {source="Orphanet:1077", source="Orphanet:1077/e", source="DOID:12661", source="Orphanet:1077/specific"}
xref: icd11.foundation:2066427602 {source="Orphanet:1077", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:521.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12661"}
xref: MedDRA:10044019 {source="Orphanet:1077", source="Orphanet:1077/e", source="EFO:1001215"}
xref: MEDGEN:57843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020254 {source="Orphanet:1077", source="MONDO:equivalentTo", source="Orphanet:1077/e", source="EFO:1001215", source="DOID:12661"}
xref: OMIM:157950 {source="MONDO:equivalentTo", source="DOID:12661"}
xref: Orphanet:1077 {source="MONDO:equivalentTo"}
xref: SCTID:14901003 {source="MONDO:equivalentTo", source="EFO:1001215", source="DOID:12661"}
xref: UMLS:C0155930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57843"}
is_a: MONDO:0002220 {source="DOID:12661"} ! tooth hard tissue disease
is_a: MONDO:0002257 {source="DOID:12661", source="MONDO:Entailed", source="MONDO:Redundant"} ! ankylosis
is_a: MONDO:0003847 {source="Orphanet:1077/inferred"} ! hereditary disease
intersection_of: MONDO:0002257 ! ankylosis
intersection_of: disease_has_location UBERON:0001091 ! calcareous tooth

[Term]
id: MONDO:0008008
name: MOMO syndrome
def: "MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype." [Orphanet:2563]
subset: gard_rare {source="GARD:178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2563"}
subset: ordo_malformation_syndrome {source="Orphanet:2563"}
subset: orphanet_rare {source="Orphanet:2563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrocephaly-obesity-mental disability-ocular abnormalities syndrome" EXACT [Orphanet:2563]
synonym: "macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)" RELATED [GARD:0000178]
synonym: "macrosomia, obesity, macrocephaly, and ocular abnormalities" RELATED [OMIM:157980]
synonym: "macrosomia, obesity, macrocephaly, ocular abnormalities" RELATED [GARD:0000178]
synonym: "macrosomia-obesity-macrocephaly-ocular abnormalities syndrome" EXACT [Orphanet:2563]
synonym: "MOMO syndrome" EXACT [OMIM:157980]
xref: GARD:178 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:2563/attributed", source="Orphanet:2563/ntbt", source="Orphanet:2563"}
xref: MEDGEN:371897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535812 {source="MONDO:equivalentTo"}
xref: OMIM:157980 {source="Orphanet:2563", source="MONDO:equivalentTo", source="Orphanet:2563/e"}
xref: Orphanet:2563 {source="OMIM:157980", source="MONDO:equivalentTo"}
xref: SCTID:724137002 {source="MONDO:equivalentTo"}
xref: UMLS:C1834759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371897"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/178/momo-syndrome" xsd:anyURI {source="GARD:0000178"}

[Term]
id: MONDO:0008009
name: monilethrix
def: "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." [Orphanet:573]
subset: gard_rare {source="GARD:93", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1454"}
subset: ordo_disorder {source="Orphanet:573"}
subset: orphanet_rare {source="Orphanet:573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MNLIX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158000]
synonym: "monilethrix" EXACT [MONDO:Lexical, OMIM:158000]
synonym: "moniliform hair syndrome" EXACT [Orphanet:573]
synonym: "nodose hair" RELATED [GARD:0000093]
xref: DOID:0050472 {source="MONDO:equivalentTo"}
xref: GARD:93 {source="MONDO:GARD"}
xref: ICD10CM:Q84.1 {source="Orphanet:573/ntbt", source="Orphanet:573/inclusion", source="Orphanet:573", source="DOID:0050472"}
xref: MEDGEN:108185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056734 {source="Orphanet:573/e", source="MONDO:equivalentTo", source="Orphanet:573", source="DOID:0050472"}
xref: NCIT:C84894 {source="MONDO:equivalentTo", source="DOID:0050472"}
xref: NORD:1454 {source="MONDO:NORD"}
xref: OMIM:158000 {source="Orphanet:573/e", source="MONDO:equivalentTo", source="Orphanet:573", source="DOID:0050472"}
xref: OMIM:252200 {source="MONDO:equivalentObsolete", source="GARD:0000093"}
xref: Orphanet:573 {source="OMIM:158000", source="MONDO:equivalentTo"}
xref: SCTID:205596006 {source="DOID:0050472"}
xref: SCTID:276482004 {source="DOID:0050472"}
xref: SCTID:69488000 {source="MONDO:equivalentTo", source="DOID:0050472"}
xref: UMLS:C0546966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108185"}
is_a: MONDO:0000426 {source="DOID:0050472", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:158000", source="Orphanet:573"} ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/93/monilethrix" xsd:anyURI {source="GARD:0000093"}

[Term]
id: MONDO:0008010
name: antigen defined by monoclonal antibody Aj9
synonym: "antigen defined by monoclonal antibody Aj9" EXACT [OMIM:158030]
synonym: "Msk1" RELATED [OMIM:158030]
xref: MEDGEN:371896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:158030 {source="MONDO:equivalentTo"}
xref: UMLS:C1834757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371896"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008011
name: antigen defined by monoclonal antibody T87
synonym: "antigen defined by monoclonal antibody T87" EXACT [OMIM:158040]
synonym: "Msk2" RELATED [OMIM:158040]
xref: MEDGEN:331821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:158040 {source="MONDO:equivalentTo"}
xref: UMLS:C1834756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331821"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008012
name: Monophalangy of great toe
synonym: "Monophalangy of great toe" EXACT [OMIM:158100]
xref: MEDGEN:320429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563570 {source="MONDO:equivalentTo"}
xref: OMIM:158100 {source="MONDO:equivalentTo"}
xref: UMLS:C1834753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320429"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008013
name: chromosome 9p deletion syndrome
def: "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis." [Orphanet:261112]
subset: disease_grouping
subset: gard_rare {source="GARD:3773", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261112"}
subset: ordo_malformation_syndrome {source="Orphanet:261112"}
subset: orphanet_rare {source="Orphanet:261112"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "9p deletion" EXACT [GARD:0003773]
synonym: "9p deletion syndrome" EXACT [Orphanet:261112]
synonym: "9p monosomy" EXACT [GARD:0003773]
synonym: "9p syndrome" EXACT [DOID:0060732]
synonym: "9p- syndrome" EXACT [Orphanet:261112]
synonym: "Alfi syndrome" EXACT [DOID:0060732, Orphanet:261112]
synonym: "chromosome 9p deletion" EXACT [GARD:0003773]
synonym: "deletion 9p" EXACT [GARD:0003773]
synonym: "monosomy 9p" EXACT [Orphanet:261112]
synonym: "monosomy 9p syndrome" EXACT [DOID:0060732, OMIM:158170]
synonym: "monosomy type 9p" EXACT [MONDORULE:4, Orphanet:261112]
synonym: "partial deletion of chromosome 9p" EXACT [Orphanet:261929]
synonym: "partial deletion of the short arm of chromosome 9" EXACT [MONDO:0016891]
synonym: "partial deletion of the short arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261929]
synonym: "partial monosomy 9p" EXACT [GARD:0003773]
synonym: "partial monosomy of chromosome 9p" EXACT [Orphanet:261929]
synonym: "partial monosomy of the short arm of chromosome 9" EXACT [Orphanet:261929]
xref: DOID:0060732 {source="MONDO:equivalentTo"}
xref: GARD:3773 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261929/attributed", source="Orphanet:261929/ntbt", source="Orphanet:261929", source="DOID:0060732", source="Orphanet:261112", source="Orphanet:261112/attributed", source="Orphanet:261112/ntbt"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:167073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538024 {source="MONDO:equivalentTo"}
xref: OMIM:158170 {source="DOID:0060732", source="MONDO:equivalentTo", source="Orphanet:261112", source="Orphanet:261112/e"}
xref: Orphanet:261112 {source="DOID:0060732", source="MONDO:equivalentTo", source="OMIM:158170"}
xref: SCTID:62599000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167073"}
is_a: MONDO:0000761 {source="DC-OMIM:158170", source="DOID:0060732"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016874 {source="Orphanet:261929"} ! partial deletion of chromosome 9
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr9p ! 9p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0008014
name: nondisjunction
synonym: "mixoploidy, familial" RELATED [OMIM:158250]
synonym: "mosaicism, chromosomal" RELATED [OMIM:158250]
synonym: "nondisjunction" EXACT [OMIM:158250]
xref: MEDGEN:320427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:158250 {source="MONDO:equivalentTo"}
xref: UMLS:C1834741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320427"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008015
name: motion sickness
def: "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "motion sickness" EXACT [OMIM:158280]
synonym: "travel sickness" EXACT [DOID:2951, NCIT:C34824]
xref: DOID:2951 {source="MONDO:equivalentTo"}
xref: ICD10CM:T75.3 {source="MONDO:equivalentTo", source="DOID:2951"}
xref: ICD9:994.6 {source="DOID:2951"}
xref: MEDGEN:44503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009041 {source="MONDO:equivalentTo", source="DOID:2951"}
xref: NCIT:C34824 {source="MONDO:otherHierarchy", source="DOID:2951"}
xref: OMIM:158280 {source="MONDO:equivalentTo", source="DOID:2951"}
xref: SCTID:157749008 {source="DOID:2951"}
xref: SCTID:212973000 {source="DOID:2951"}
xref: SCTID:212974006 {source="DOID:2951"}
xref: SCTID:269278001 {source="DOID:2951"}
xref: SCTID:37031009 {source="DOID:2951"}
xref: UMLS:C0026603 {source="MEDGEN:44503", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:2951"} ! inner ear disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008016
name: trismus-pseudocamptodactyly syndrome
subset: gard_rare {source="GARD:2621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1795"}
subset: ordo_disorder {source="Orphanet:3377"}
subset: ordo_malformation_syndrome {source="Orphanet:3377"}
subset: orphanet_rare {source="Orphanet:3377"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis distal type 7" RELATED [GARD:0002621]
synonym: "arthrogryposis, distal, type 7" RELATED [MONDO:Lexical, OMIM:158300]
synonym: "DA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158300]
synonym: "distal arthrogryposis type 7" EXACT [Orphanet:3377]
synonym: "Dutch-Kentucky syndrome" EXACT [Orphanet:3377]
synonym: "Hecht syndrome" EXACT [OMIM:158300, Orphanet:3377]
synonym: "Hecht-Beals syndrome" EXACT [Orphanet:3377]
synonym: "mouth, inability to open completely, and short finger-flexor tendons" RELATED [OMIM:158300]
synonym: "trismus-pseudocamptodactyly syndrome" EXACT [OMIM:158300]
xref: DOID:0111603 {source="MONDO:equivalentTo"}
xref: GARD:2621 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:3377/attributed", source="Orphanet:3377/ntbt", source="Orphanet:3377"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535857 {source="MONDO:equivalentTo"}
xref: NORD:1795 {source="MONDO:NORD"}
xref: OMIM:158300 {source="Orphanet:3377", source="MONDO:equivalentTo", source="Orphanet:3377/e"}
xref: Orphanet:3377 {source="MONDO:equivalentTo", source="OMIM:158300"}
xref: SCTID:8757006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78540"}
is_a: MONDO:0019942 {source="DC-OMIM:158300", source="Orphanet:3377"} ! distal arthrogryposis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7578 {source="MONDO:mim2gene_medgen"} ! MYH8

[Term]
id: MONDO:0008017
name: hereditary mucoepithelial dysplasia
def: "A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia]
subset: gard_rare {source="GARD:5427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1839"}
subset: ordo_malformation_syndrome {source="Orphanet:1839"}
subset: orphanet_rare {source="Orphanet:1839"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HMD" EXACT ABBREVIATION [OMIM:158310]
synonym: "mucoepithelial dysplasia, hereditary" EXACT [OMIM:158310]
synonym: "Urban-Schosser-Spohn syndrome" EXACT [Orphanet:1839]
xref: GARD:5427 {source="MONDO:GARD"}
xref: ICD9:478.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536476 {source="MONDO:equivalentTo"}
xref: OMIM:158310 {source="Orphanet:1839/e", source="MONDO:equivalentTo", source="Orphanet:1839"}
xref: Orphanet:1839 {source="OMIM:158310", source="MONDO:equivalentTo"}
xref: SCTID:403442005 {source="MONDO:equivalentTo"}
xref: UMLS:C1274795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220887"}
is_a: MONDO:0005093 {source="GARD:0005427", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia" xsd:anyURI {source="GARD:0005427"}

[Term]
id: MONDO:0008018
name: Muir-Torre syndrome
def: "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." [Orphanet:587]
subset: gard_rare {source="GARD:6821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas" RELATED [GARD:0006821]
synonym: "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas" RELATED [OMIM:158320]
synonym: "MRTES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158320]
synonym: "MUIR-Torre syndrome" RELATED [OMIM:158320]
synonym: "Muir-Torre syndrome" EXACT [MONDO:Lexical, OMIM:158320]
synonym: "multiple keratoacanthoma, Muir-Torre type" EXACT [Orphanet:587]
xref: DOID:0050465 {source="MONDO:equivalentTo"}
xref: GARD:6821 {source="MONDO:GARD"}
xref: ICD10CM:L72.8 {source="Orphanet:587", source="Orphanet:587/attributed", source="Orphanet:587/ntbt"}
xref: MedDRA:10063042 {source="Orphanet:587", source="Orphanet:587/e"}
xref: MEDGEN:231157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055653 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="Orphanet:587/e"}
xref: NCIT:C84905 {source="DOID:0050465", source="MONDO:equivalentTo"}
xref: OMIM:158320 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="Orphanet:587/e"}
xref: Orphanet:587 {source="OMIM:158320", source="MONDO:equivalentTo"}
xref: SCTID:403824007 {source="DOID:0050465", source="MONDO:equivalentTo"}
xref: UMLS:C1321489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231157"}
is_a: MONDO:0018630 {source="https://github.com/monarch-initiative/mondo/issues/1627"} ! hereditary nonpolyposis colon cancer
relationship: excluded_subClassOf MONDO:0005835 {source="DOID:0050465", source="Orphanet:587", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:587", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:587", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: excluded_subClassOf MONDO:0020173 {source="Orphanet:587", source="https://orcid.org/0000-0001-5208-3432"} ! benign tumor of palpebral epidermis
relationship: excluded_subClassOf MONDO:0020176 {source="Orphanet:587", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete palpebral sebaceous gland tumor
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:158320", source="Orphanet:587"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0008019
name: mullerian aplasia and hyperandrogenism
def: "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina." [NCIT:C120376]
subset: gard_rare {source="GARD:17195", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1858", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247768"}
subset: ordo_malformation_syndrome {source="Orphanet:247768"}
subset: orphanet_rare {source="Orphanet:247768"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mullerian aplasia and hyperandrogenism" EXACT [OMIM:158330]
synonym: "Mullerian duct failure and hyperandrogenism" EXACT [OMIM:158330, Orphanet:247768]
synonym: "Müllerian aplasia and hyperandrogenism" RELATED [Orphanet:247768]
synonym: "Müllerian duct failure and hyperandrogenism" EXACT [Orphanet:247768]
synonym: "WNT4 Deficiency" EXACT [NORD:1858]
synonym: "WNT4 deficiency" EXACT [Orphanet:247768]
xref: DOID:0111526 {source="MONDO:equivalentTo"}
xref: GARD:17195 {source="MONDO:GARD"}
xref: ICD10CM:Q51.8 {source="Orphanet:247768", source="Orphanet:247768/attributed", source="Orphanet:247768/ntbt"}
xref: MEDGEN:390686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567186 {source="MONDO:equivalentTo"}
xref: NCIT:C120376 {source="MONDO:equivalentTo"}
xref: NORD:1858 {source="MONDO:NORD"}
xref: OMIM:158330 {source="MONDO:equivalentTo", source="Orphanet:247768", source="Orphanet:247768/e"}
xref: Orphanet:247768 {source="OMIM:158330", source="MONDO:equivalentTo"}
xref: Orphanet:3109 {source="OMIM:158330", source="MONDO:directSiblingOf"}
xref: UMLS:C2675014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390686"}
is_a: MONDO:0015830 {source="Orphanet:247768", source="Orphanet:247768/inferred"} ! partial bilateral aplasia of the mullerian ducts
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12783 {source="MONDO:mim2gene_medgen"} ! WNT4

[Term]
id: MONDO:0008020
name: multiple exostoses with spastic tetraparesis
synonym: "Hamann Zanki schimrigk syndrome" RELATED [GARD:0000291]
synonym: "multiple exostoses with spastic tetraparesis" EXACT CLINGEN_LABEL [OMIM:158345]
synonym: "spasticity multiple exostoses" RELATED [GARD:0000291]
xref: MEDGEN:371889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563566 {source="MONDO:equivalentTo"}
xref: OMIM:158345 {source="MONDO:equivalentTo"}
xref: UMLS:C1834724 {source="MEDGEN:371889", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563566/inferred"} ! hereditary disease

[Term]
id: MONDO:0008021
name: Cowden syndrome 1
def: "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16450", source="MONDO:GARD"}
subset: rare
synonym: "cerebellar granule cell Hypertrophy and megalencephaly" RELATED [OMIM:158350]
synonym: "cerebelloparenchymal disorder 6" RELATED [OMIM:158350]
synonym: "Cowden disease caused by mutation in PTEN" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 1" EXACT [MONDO:Lexical, OMIM:158350]
synonym: "Cowden syndrome type 1" EXACT [MONDORULE:1, OMIM:158350]
synonym: "CS" RELATED ABBREVIATION [OMIM:158350]
synonym: "CWS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158350]
synonym: "dysplastic gangliocytoma of the cerebellum" RELATED [OMIM:158350]
synonym: "Lhermitte-Duclos disease" RELATED [OMIM:158350]
synonym: "Lhermitte-Duclos syndrome" EXACT [OMIM:158350, OMIM:genemap2]
synonym: "multiple hamartoma syndrome" RELATED [OMIM:158350]
synonym: "Proteus-like syndrome" RELATED [OMIM:158350]
synonym: "PTEN Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16450 {source="MONDO:GARD"}
xref: OMIM:158350 {source="MONDO:equivalentTo"}
xref: Orphanet:201 {source="OMIM:158350"}
xref: Orphanet:2969 {source="OMIM:158350", source="MONDO:relatedTo"}
xref: Orphanet:65285 {source="OMIM:158350", source="MONDO:relatedTo"}
is_a: MONDO:0016063 {source="DC-OMIM:158350", source="MONDO:Redundant", source="OMIM:158350"} ! Cowden disease
intersection_of: MONDO:0016063 ! Cowden disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 ! PTEN
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:158350"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008022
name: muscle cramps, familial
synonym: "muscle cramps, familial" EXACT [OMIM:158400]
xref: MEDGEN:371885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563563 {source="MONDO:equivalentTo"}
xref: OMIM:158400 {source="MONDO:equivalentTo"}
xref: UMLS:C1834708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371885"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008023
name: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
def: "This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus." [Orphanet:2579]
subset: gard_rare {source="GARD:2417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2579"}
subset: orphanet_rare {source="Orphanet:2579"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Furukawa-Takagi-Nakao syndrome" EXACT [Orphanet:2579]
synonym: "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus" RELATED [GARD:0002417]
synonym: "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" RELATED [OMIM:158500]
xref: GARD:2417 {source="MONDO:GARD"}
xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538193 {source="Orphanet:2579", source="Orphanet:2579/e"}
xref: OMIM:158500 {source="MONDO:equivalentTo", source="Orphanet:2579", source="GARD:0002417", source="Orphanet:2579/e"}
xref: Orphanet:2579 {source="MONDO:equivalentTo", source="OMIM:158500"}
xref: SCTID:237611007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137966"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0004884 ! eye degenerative disorder
is_a: MONDO:0100309 {source="Orphanet:2579"} ! hereditary ataxia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus" xsd:anyURI {source="GARD:0002417"}

[Term]
id: MONDO:0008024
name: neuronopathy, distal hereditary motor, type 7A
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18269", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Dhmn7A" RELATED [OMIM:158580]
synonym: "Dhmnvp" RELATED [OMIM:158580]
synonym: "Harper-Young myopathy" RELATED [OMIM:158580]
synonym: "HMN 7A" RELATED [OMIM:158580]
synonym: "HMN7A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158580]
synonym: "neuronopathy, distal hereditary motor caused by mutation in SLC5A7" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type VIIA" RELATED [MONDO:Lexical, OMIM:158580]
synonym: "neuropathy, distal hereditary motor, type 7A" RELATED [OMIM:158580]
synonym: "SLC5A7 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spinal muscular atrophy, distal, with vocal cord paralysis" RELATED [OMIM:158580]
xref: DOID:0111201 {source="MONDO:equivalentTo"}
xref: GARD:18269 {source="MONDO:GARD"}
xref: MEDGEN:322474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563562 {source="MONDO:equivalentTo"}
xref: OMIM:158580 {source="MONDO:equivalentTo"}
xref: Orphanet:139589 {source="OMIM:158580"}
xref: UMLS:C1834703 {source="MEDGEN:322474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015355 {source="Orphanet:139589/btnt"} ! distal hereditary motor neuropathy type 7
is_a: MONDO:0018894 {source="DC-OMIM:158580", source="MONDO:Redundant"} ! distal hereditary motor neuropathy
is_a: MONDO:0024237 {source="MESH:C563562/inferred"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14025 ! SLC5A7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14025 {source="MONDO:mim2gene_medgen"} ! SLC5A7

[Term]
id: MONDO:0008025
name: neuronopathy, distal hereditary motor, type 2A
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18262", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Charcot-Marie-Tooth disease, spinal, 2A" RELATED [OMIM:158590]
synonym: "HMN 2A" RELATED [OMIM:158590]
synonym: "HMN2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158590]
synonym: "HSPB8 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB8" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type IIA" RELATED [MONDO:Lexical, OMIM:158590]
synonym: "neuropathy, distal hereditary motor, type 2A" RELATED [OMIM:158590]
synonym: "spinal muscular atrophy, distal, adult, autosomal dominant, 2A" RELATED [OMIM:158590]
xref: DOID:0111208 {source="MONDO:equivalentTo"}
xref: GARD:18262 {source="MONDO:GARD"}
xref: MEDGEN:322471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563561 {source="MONDO:equivalentTo"}
xref: OMIM:158590 {source="MONDO:equivalentTo"}
xref: Orphanet:139525 {source="OMIM:158590"}
xref: UMLS:C1834692 {source="MEDGEN:322471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2
is_a: MONDO:0018894 {source="DC-OMIM:158590", source="MONDO:Redundant"} ! distal hereditary motor neuropathy
is_a: MONDO:0024237 {source="MESH:C563561/inferred"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30171 ! HSPB8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30171 {source="MONDO:mim2gene_medgen"} ! HSPB8

[Term]
id: MONDO:0008026
name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
subset: gard_rare {source="GARD:13519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:209341"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kugelberg-Welander syndrome, autosomal dominant" RELATED [OMIM:158600]
synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" EXACT [Orphanet:209341]
synonym: "Sma-led" RELATED [OMIM:158600]
synonym: "SMALED1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:158600, Orphanet:209341]
synonym: "spinal muscular atrophy, childhood, proximal, autosomal dominant" RELATED [OMIM:158600]
synonym: "spinal muscular atrophy, juvenile, proximal, autosomal dominant" RELATED [OMIM:158600]
synonym: "spinal muscular atrophy, lower extremity-predominant 1, AD" EXACT [OMIM:158600, OMIM:genemap2]
synonym: "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:158600]
xref: DOID:0070351 {source="MONDO:equivalentTo"}
xref: GARD:13519 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:209341", source="Orphanet:209341/attributed", source="Orphanet:209341/ntbt"}
xref: MEDGEN:322470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563560 {source="MONDO:equivalentTo"}
xref: OMIM:158600 {source="MONDO:equivalentTo", source="Orphanet:209341", source="Orphanet:209341/e"}
xref: Orphanet:209341 {source="MONDO:equivalentTo", source="OMIM:158600"}
xref: Orphanet:363447 {source="OMIM:158600"}
xref: UMLS:C1834690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322470"}
is_a: MONDO:0001516 {source="DC-OMIM:158600", source="MESH:C563560/inferred"} ! spinal muscular atrophy
is_a: MONDO:0018190 {source="OMIM:158600", source="Orphanet:209341"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy
is_a: MONDO:0024237 {source="MESH:C563560/inferred"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008027
name: muscular atrophy, malignant neurogenic
synonym: "muscular atrophy, malignant neurogenic" EXACT [OMIM:158650]
xref: MEDGEN:322469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563559 {source="MONDO:equivalentTo"}
xref: OMIM:158650 {source="MONDO:equivalentTo"}
xref: UMLS:C1834689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322469"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008028
name: muscular dystrophy, Barnes type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "muscular dystrophy, Barnes type" EXACT [OMIM:158800]
xref: MEDGEN:322468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563558 {source="MONDO:equivalentTo"}
xref: OMIM:158800 {source="MONDO:equivalentTo"}
xref: UMLS:C1834688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322468"}
is_a: MONDO:0020121 {source="DC-OMIM:158800", source="MESH:C563558"} ! muscular dystrophy

[Term]
id: MONDO:0008029
name: Bethlem myopathy
def: "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." [NCIT:C126688]
comment: Editor note: consider separating type 1 form
subset: gard_rare {source="GARD:873", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:610"}
subset: orphanet_rare {source="Orphanet:610"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "benign autosomal dominant myopathy" EXACT [Orphanet:610]
synonym: "benign congenital muscular dystrophy" EXACT [DOID:0050663]
synonym: "Bethlem myopathy 1" RELATED [MONDO:Lexical, OMIM:158810]
synonym: "Bethlem myopathy type 1" EXACT [MONDORULE:1, OMIM:158810]
synonym: "BTHLM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158810]
xref: DOID:0050663 {source="MONDO:equivalentTo"}
xref: GARD:873 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:610", source="Orphanet:610/attributed", source="Orphanet:610/ntbt"}
xref: MEDGEN:331805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535436 {source="Orphanet:610", source="MONDO:equivalentTo", source="Orphanet:610/e"}
xref: NANDO:1200220 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126688 {source="MONDO:equivalentTo"}
xref: OMIMPS:158810 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:610 {source="MONDO:equivalentTo", source="OMIM:158810"}
xref: SCTID:718572004 {source="MONDO:equivalentTo"}
xref: UMLS:C1834674 {source="MEDGEN:331805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:0050663/inferred", source="MONDO:Redundant", source="NCIT:C126688"} ! myopathy
is_a: MONDO:0016106 {source="Orphanet:610"} ! progressive muscular dystrophy
is_a: MONDO:0019950 {source="DOID:0050663", source="Orphanet:610"} ! congenital muscular dystrophy
is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-0736-9199"} ! congenital myopathy
is_a: MONDO:0020121 {source="DOID:0050663/inferred", source="MESH:C535436", source="MONDO:Redundant", source="Orphanet:610/inferred"} ! muscular dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:158810"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0008030
name: facioscapulohumeral muscular dystrophy 1
def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15087", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles" RELATED [MESH:C536391, OMIM:158900]
synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included" RELATED [MESH:C536391]
synonym: "facioscapulohumeral muscular dystrophy" BROAD [MESH:C536391, OMIM:158900]
synonym: "facioscapulohumeral muscular dystrophy 1" EXACT [MESH:C536391, MONDO:Lexical, OMIM:158900]
synonym: "facioscapulohumeral muscular dystrophy 1A" RELATED [GARD:0009941]
synonym: "facioscapulohumeral muscular dystrophy caused by mutation in FRG1" EXACT [MONDO:design_pattern]
synonym: "facioscapulohumeral muscular dystrophy type 1" EXACT [MONDORULE:1, OMIM:158900]
synonym: "facioscapulohumeral muscular dystrophy, infantile" RELATED [MESH:C536391, OMIM:158900]
synonym: "FMD" BROAD ABBREVIATION [MESH:C536391]
synonym: "FRG1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FSHD" BROAD ABBREVIATION [GARD:0009941, MESH:C536391]
synonym: "FSHD1" RELATED ABBREVIATION [MESH:C536391, MONDO:Lexical, OMIM:158900]
synonym: "FSHD1A" RELATED ABBREVIATION [GARD:0009941, MESH:C536391]
synonym: "FSHMD1A" RELATED ABBREVIATION [GARD:0009941, MESH:C536391]
synonym: "Landouzy-Dejerine muscular dystrophy" RELATED [GARD:0009941, MESH:C536391, OMIM:158900]
synonym: "Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included" RELATED [MESH:C536391]
synonym: "muscular dystrophy, facioscapulohumeral" RELATED [GARD:0009941]
synonym: "muscular dystrophy, facioscapulohumeral, type 1" RELATED [MESH:C536391, OMIM:158900]
synonym: "muscular dystrophy, facioscapulohumeral, type 1A" NARROW [GARD:0009941, MESH:C536391, OMIM:158900]
xref: DOID:0111192 {source="MONDO:equivalentTo"}
xref: GARD:15087 {source="MONDO:GARD"}
xref: MEDGEN:1727901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536391 {source="MONDO:equivalentTo"}
xref: NCIT:C172704 {source="MONDO:equivalentTo"}
xref: OMIM:158900 {source="MONDO:equivalentTo", source="GARD:0009941"}
xref: Orphanet:269 {source="OMIM:158900", source="GARD:0009941"}
xref: UMLS:C5399970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1727901"}
is_a: MONDO:0001347 {source="DC-OMIM:158900", source="MESH:C536391", source="MONDO:Redundant", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy
intersection_of: MONDO:0001347 ! facioscapulohumeral muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3954 ! FRG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3954 {source="MONDO:mim2gene_medgen"} ! FRG1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy" xsd:anyURI {source="GARD:0009941"}

[Term]
id: MONDO:0008031
name: facioscapulohumeral muscular dystrophy 2
def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15088", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "facioscapulohumeral muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:158901]
synonym: "facioscapulohumeral muscular dystrophy 2, digenic" RELATED [OMIM:158901]
synonym: "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1" EXACT [MONDO:design_pattern]
synonym: "facioscapulohumeral muscular dystrophy type 2" EXACT [MONDORULE:1, OMIM:158901]
synonym: "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant" EXACT [OMIM:158901, OMIM:genemap2]
synonym: "FSHD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158901]
synonym: "Fshd2, digenic" RELATED [OMIM:158901]
synonym: "muscular dystrophy, facioscapulohumeral, type 1B" RELATED [OMIM:158901]
synonym: "muscular dystrophy, facioscapulohumeral, type 2" RELATED [OMIM:158901]
synonym: "SMCHD1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111193 {source="MONDO:equivalentTo"}
xref: GARD:15088 {source="MONDO:GARD"}
xref: MEDGEN:320405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563557 {source="MONDO:equivalentTo"}
xref: NCIT:C172705 {source="MONDO:equivalentTo"}
xref: OMIM:158901 {source="MONDO:equivalentTo"}
xref: Orphanet:269 {source="OMIM:158901"}
xref: UMLS:C1834671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320405"}
is_a: MONDO:0001347 {source="DC-OMIM:158901", source="MESH:C563557", source="MONDO:Redundant", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy
intersection_of: MONDO:0001347 ! facioscapulohumeral muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 ! SMCHD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 {source="MONDO:mim2gene_medgen"} ! SMCHD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008032
name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1A
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2733" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0012215

[Term]
id: MONDO:0008033
name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
def: "OBSOLETE. Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death." [Orphanet:264]
is_obsolete: true
replaced_by: MONDO:0021569

[Term]
id: MONDO:0008034
name: muscular dystrophy, pseudohypertrophic, with Internalized capillaries
subset: gard_rare {source="GARD:15089", source="MONDO:GARD"}
subset: rare
synonym: "muscular dystrophy, pseudohypertrophic, with Internalized capillaries" EXACT [OMIM:159050]
xref: GARD:15089 {source="MONDO:GARD"}
xref: MEDGEN:320399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563554 {source="MONDO:equivalentTo"}
xref: OMIM:159050 {source="MONDO:equivalentTo"}
xref: Orphanet:98895 {source="OMIM:159050"}
xref: UMLS:C1834652 {source="MEDGEN:320399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010311 {source="Orphanet:98895/btnt"} ! Becker muscular dystrophy

[Term]
id: MONDO:0008035
name: muscular hypoplasia, congenital universal, of Krabbe
synonym: "muscular hypoplasia, congenital universal, of Krabbe" EXACT [OMIM:159100]
xref: MEDGEN:320398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563553 {source="MONDO:equivalentTo"}
xref: OMIM:159100 {source="MONDO:equivalentTo"}
xref: UMLS:C1834651 {source="MONDO:equivalentTo", source="MEDGEN:320398", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0008036
name: myasthenia, limb-girdle, autoimmune
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myasthenia gravis, limb-girdle" RELATED [OMIM:159400]
synonym: "myasthenia, limb-girdle, autoimmune" EXACT [OMIM:159400]
xref: MEDGEN:331795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563552 {source="MONDO:equivalentTo"}
xref: OMIM:159400 {source="MONDO:equivalentTo"}
xref: Orphanet:589 {source="OMIM:159400"}
xref: UMLS:C1834635 {source="MEDGEN:331795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009688 {source="MESH:C563552", source="Orphanet:589/btnt"} ! myasthenia gravis

[Term]
id: MONDO:0008037
name: myelinated optic nerve fibers
synonym: "myelinated optic nerve fibers" EXACT [OMIM:159500]
xref: MEDGEN:320388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:159500 {source="MONDO:equivalentTo"}
xref: UMLS:C1834600 {source="MEDGEN:320388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008038
name: ataxia-pancytopenia syndrome
def: "A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia." [Orphanet:2585]
subset: gard_rare {source="GARD:3865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2585"}
subset: ordo_malformation_syndrome {source="Orphanet:2585"}
subset: orphanet_rare {source="Orphanet:2585"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia-pancytopenia syndrome" EXACT [OMIM:159550]
synonym: "ATXPC" RELATED ABBREVIATION [OMIM:159550]
synonym: "myelocerebellar disorder" EXACT [OMIM:159550, Orphanet:2585]
xref: GARD:3865 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:2585/attributed", source="Orphanet:2585/ntbt", source="MONDO:relatedTo", source="Orphanet:2585"}
xref: MEDGEN:230896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563233 {source="MONDO:equivalentTo"}
xref: NCIT:C176909 {source="MONDO:equivalentTo"}
xref: OMIM:159550 {source="Orphanet:2585", source="MONDO:equivalentTo", source="Orphanet:2585/e"}
xref: Orphanet:2585 {source="OMIM:159550", source="MONDO:equivalentTo"}
xref: SCTID:768556005 {source="MONDO:equivalentTo"}
xref: UMLS:C1327919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:230896"}
is_a: MONDO:0100310 {source="https://orcid.org/0000-0002-0736-9199"} ! hereditary cerebellar ataxia
relationship: excluded_subClassOf MONDO:0015141 {source="Orphanet:2585", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of medulla oblongata
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1349 {source="MONDO:mim2gene_medgen"} ! SAMD9L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5654" xsd:anyURI

[Term]
id: MONDO:0008039
name: tropical spastic paraparesis
def: "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." [Orphanet:289326]
subset: gard_rare {source="GARD:8208", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289326"}
subset: orphanet_rare {source="Orphanet:289326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial spastic paraparesis, HTLV-1-associated" RELATED [OMIM:159580]
synonym: "ham" RELATED [MONDO:Lexical, OMIM:159580]
synonym: "ham/TSP" EXACT [Orphanet:289326]
synonym: "HTLV-1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208]
synonym: "HTLV-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326]
synonym: "HTLV-associated myelopathy" EXACT [DOID:321]
synonym: "Human T-cell leukaemia virus type 1 associated myelopathy/tropical spastic paraparesis" RELATED OMO:0003005 []
synonym: "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208]
synonym: "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326]
synonym: "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326]
synonym: "myelopathy, HTLV-1-associated" RELATED [MONDO:Lexical, OMIM:159580]
synonym: "tropical spastic paralysis" EXACT [DOID:321]
synonym: "tropical spastic paraparesis (formerly)" RELATED [GARD:0008208]
synonym: "tropical spastic paraplegia" EXACT [DOID:321]
synonym: "TSP" EXACT ABBREVIATION [Orphanet:289326]
xref: DOID:321 {source="MONDO:equivalentTo", source="EFO:0007527"}
xref: EFO:0007527 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8208 {source="MONDO:GARD"}
xref: ICD10CM:G04.1 {source="Orphanet:289326", source="DOID:321", source="Orphanet:289326/e"}
xref: icd11.foundation:1043229589 {source="MONDO:equivalentTo", source="Orphanet:289326", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:323.01 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10044696 {source="Orphanet:289326", source="Orphanet:289326/e"}
xref: MEDGEN:18298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015493 {source="MONDO:equivalentTo", source="EFO:0007527", source="DOID:321"}
xref: NANDO:1200206 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:159580 {source="MONDO:equivalentTo", source="Orphanet:289326", source="DOID:321", source="Orphanet:289326/e"}
xref: Orphanet:289326 {source="MONDO:equivalentTo", source="OMIM:159580"}
xref: SCTID:192733005 {source="DOID:321"}
xref: SCTID:45129002 {source="DOID:321"}
xref: SCTID:714279000 {source="MONDO:equivalentTo", source="DOID:321"}
xref: UMLS:C0030481 {source="MEDGEN:18298", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="MONDO:Redundant", source="Orphanet:289326"} ! viral infectious disease
is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:289326"} ! infectious disorder of the nervous system
relationship: disease_has_feature HP:0001324 ! Muscle weakness
relationship: disease_has_feature HP:0003552 ! Muscle stiffness
relationship: disease_has_infectious_agent NCBITaxon:11908 ! Human T-cell leukemia virus type I
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare

[Term]
id: MONDO:0008040
name: transient myeloproliferative syndrome
def: "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission." [NCIT:P378]
subset: gard_rare {source="GARD:12765", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420611"}
subset: orphanet_rare {source="Orphanet:420611"}
subset: rare
synonym: "leukemia, transient" RELATED [OMIM:159595]
synonym: "leukemia, transient, of Down syndrome" EXACT [OMIM:159595, OMIM:genemap2]
synonym: "MST" EXACT ABBREVIATION [DOID:0060888]
synonym: "Mst" RELATED [OMIM:159595]
synonym: "myeloproliferative syndrome, transient" RELATED [OMIM:159595]
synonym: "TAM" EXACT ABBREVIATION [DOID:0060888]
synonym: "TMD" EXACT ABBREVIATION [Orphanet:420611]
synonym: "transient abnormal myelopoiesis" EXACT [DOID:0060888, OMIM:159595, Orphanet:420611]
synonym: "Transient abnormal myelopoiesis associated with Down syndrome" EXACT [NCIT:C82339]
synonym: "transient leukaemia" EXACT OMO:0003005 []
synonym: "transient leukemia" EXACT [DOID:0060888]
synonym: "transient leurkemia of Down syndrome" EXACT [DOID:0060888]
synonym: "transient myeloproliferative disease" EXACT [DOID:0060888, Orphanet:420611]
synonym: "transient myeloproliferative disorder" EXACT [NCIT:C82339]
synonym: "transient myeloproliferative syndrome" EXACT [MONDO:ambiguous]
synonym: "transient myeloproliferative syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060888 {source="MONDO:equivalentTo"}
xref: GARD:12765 {source="MONDO:GARD"}
xref: HP:0005534 {source="MONDO:otherHierarchy"}
xref: ICDO:9898/1 {source="NCIT:C82339"}
xref: MEDGEN:331782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563551 {source="MONDO:equivalentTo"}
xref: NCIT:C82339 {source="MONDO:equivalentTo"}
xref: OMIM:159595 {source="MONDO:equivalentTo", source="Orphanet:420611", source="DOID:0060888", source="Orphanet:420611/e"}
xref: ONCOTREE:TAM {source="MONDO:equivalentTo"}
xref: Orphanet:420611 {source="OMIM:159595", source="MONDO:equivalentTo", source="DOID:0060888"}
xref: SCTID:721307000 {source="MONDO:equivalentTo"}
xref: UMLS:C1834582 {source="MEDGEN:331782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020076 {source="DOID:0060888", source="Orphanet:420611"} ! myeloproliferative neoplasm
relationship: disease_arises_from_feature MONDO:0008608 ! Down syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "transient myeloproliferative syndrome (disease)" xsd:string

[Term]
id: MONDO:0008041
name: myoclonic epilepsy, Hartung type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "myoclonic epilepsy, Hartung type" EXACT [OMIM:159600]
xref: MEDGEN:371857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563550 {source="MONDO:equivalentTo"}
xref: OMIM:159600 {source="MONDO:equivalentTo"}
xref: UMLS:C1834581 {source="MEDGEN:371857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016022 {source="DC-OMIM:159600"} ! early myoclonic encephalopathy

[Term]
id: MONDO:0008042
name: obsolete myoclonus and ataxia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4429" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008945

[Term]
id: MONDO:0008043
name: myoclonus-cerebellar ataxia-deafness syndrome
def: "This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." [Orphanet:2589]
subset: gard_rare {source="GARD:3873", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2589"}
subset: ordo_malformation_syndrome {source="Orphanet:2589"}
subset: orphanet_rare {source="Orphanet:2589"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myoclonus cerebellar ataxia deafness" RELATED [GARD:0003873]
synonym: "myoclonus, cerebellar ataxia, and deafness" RELATED [OMIM:159800]
xref: GARD:3873 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:2589", source="Orphanet:2589/attributed", source="Orphanet:2589/ntbt"}
xref: MEDGEN:331780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563549 {source="MONDO:equivalentTo"}
xref: OMIM:159800 {source="MONDO:equivalentTo", source="Orphanet:2589", source="Orphanet:2589/e"}
xref: Orphanet:2589 {source="MONDO:equivalentTo", source="OMIM:159800"}
xref: UMLS:C1834579 {source="MEDGEN:331780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100309 {source="Orphanet:2589"} ! hereditary ataxia

[Term]
id: MONDO:0008044
name: myoclonic dystonia 11
def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alcohol-responsive dystonia" EXACT [Orphanet:36899]
synonym: "dystonia 11, myoclonic" RELATED [MONDO:Lexical, OMIM:159900]
synonym: "dystonia, alcohol-responsive" RELATED [OMIM:159900]
synonym: "dystonia-11, myoclonic" EXACT [OMIM:159900, OMIM:genemap2]
synonym: "DYT11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:159900]
synonym: "myoclonic dystonia" RELATED [OMIM:159900]
synonym: "myoclonic dystonia 11" EXACT CLINGEN_LABEL []
synonym: "myoclonic dystonia type 11" EXACT [DOID:0090034, MONDORULE:2]
synonym: "myoclonus, hereditary essential" RELATED [OMIM:159900]
synonym: "myoclonus-dystonia syndrome" RELATED [OMIM:159900]
synonym: "myoclonus-dystonia syndrome caused by mutation in SGCE" EXACT []
synonym: "SGCE myoclonus-dystonia syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0090034 {source="MONDO:equivalentTo"}
xref: GARD:18616 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:36899", source="DOID:0090034"}
xref: MEDGEN:331778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536096 {source="Orphanet:36899"}
xref: OMIM:159900 {source="Orphanet:36899", source="DOID:0090034", source="MONDO:equivalentTo"}
xref: UMLS:C1834570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331778"}
is_a: MONDO:0000903 {source="DOID:0090034"} ! myoclonus-dystonia syndrome
is_a: MONDO:0044807 {source="DOID:0090034/inferred", source="MONDO:Redundant", source="OMIM:159900"} ! inherited dystonia
intersection_of: MONDO:0000903 ! myoclonus-dystonia syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10808 ! SGCE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008045
name: spinal muscular atrophy-progressive myoclonic epilepsy syndrome
def: "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." [Orphanet:2590]
subset: gard_rare {source="GARD:3875", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2590"}
subset: orphanet_rare {source="Orphanet:2590"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary myoclonus and progressive distal muscular atrophy" RELATED [GARD:0003044]
synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [Orphanet:2590]
synonym: "Jankovic Rivera syndrome" RELATED [GARD:0003044]
synonym: "Jankovic-Rivera syndrome" EXACT [Orphanet:2590]
synonym: "myoclonus hereditary progressive distal muscular atrophy" RELATED [GARD:0003875]
synonym: "myoclonus, hereditary, with progressive distal muscular atrophy" RELATED [OMIM:159950]
synonym: "SMAPME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:159950]
synonym: "spinal muscular atrophy with progressive myoclonic epilepsy" RELATED [MONDO:Lexical, OMIM:159950]
xref: DOID:0111527 {source="MONDO:equivalentTo"}
xref: GARD:3875 {source="MONDO:GARD"}
xref: ICD10CM:G25.3 {source="Orphanet:2590/attributed", source="Orphanet:2590/ntbt", source="Orphanet:2590"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:371854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537563 {source="MONDO:equivalentTo"}
xref: OMIM:159950 {source="Orphanet:2590/e", source="MONDO:equivalentTo", source="Orphanet:2590", source="GARD:0003044"}
xref: Orphanet:2590 {source="MONDO:equivalentTo", source="OMIM:159950"}
xref: SCTID:703524005 {source="MONDO:equivalentTo"}
xref: UMLS:C1834569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371854"}
is_a: MONDO:0001516 {source="https://orcid.org/0000-0002-0736-9199"} ! spinal muscular atrophy
is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder
is_a: MONDO:0020128 {source="Orphanet:2590", source="Orphanet:2590/inferred"} ! motor neuron disorder
is_a: MONDO:0100524 {source="https://clinicalgenome.org/affiliation/40110/"} ! ASAH1-related sphingolipidosis
relationship: excluded_subClassOf MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! variable age onset epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 {source="MONDO:mim2gene_medgen"} ! ASAH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5881" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI

[Term]
id: MONDO:0008046
name: autosomal dominant myoglobinuria
def: "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." [Orphanet:99846]
subset: gard_rare {source="GARD:16917", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99846"}
subset: orphanet_rare {source="Orphanet:99846"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myoglobinuria, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:160010]
xref: GARD:16917 {source="MONDO:GARD"}
xref: ICD10CM:R82.1 {source="Orphanet:99846", source="Orphanet:99846/attributed", source="Orphanet:99846/ntbt"}
xref: MEDGEN:320384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563546 {source="MONDO:equivalentTo"}
xref: OMIM:160010 {source="MONDO:equivalentTo", source="Orphanet:99846", source="Orphanet:99846/e"}
xref: Orphanet:99846 {source="MONDO:equivalentTo", source="OMIM:160010"}
xref: SCTID:725903003 {source="MONDO:equivalentTo"}
xref: UMLS:C1834567 {source="MEDGEN:320384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000866 {source="DC-OMIM:160010", source="MESH:C563546", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary myoglobinuria
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism
intersection_of: MONDO:0000866 ! hereditary myoglobinuria
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: excluded_subClassOf MONDO:0016117 {source="Orphanet:99846", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular lipidosis

[Term]
id: MONDO:0008047
name: episodic ataxia type 1
def: "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." [Orphanet:37612]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:37612"}
subset: orphanet_rare {source="Orphanet:37612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acetazolamide-responsive periodic ataxia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/]
synonym: "ataxia, episodic, with myokymia" RELATED [OMIM:160120]
synonym: "continuous muscle fiber activity" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/]
synonym: "continuous muscle fiber activity, hereditary" RELATED [OMIM:160120]
synonym: "continuous muscle fibre activity" EXACT OMO:0003005 []
synonym: "continuous muscle fibre activity, hereditary" RELATED OMO:0003005 []
synonym: "EA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160120]
synonym: "episodic ataxia with myokymia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120, Orphanet:37612]
synonym: "episodic ataxia, type 1" RELATED [MONDO:Lexical, OMIM:160120]
synonym: "episodic ataxia/myokymia syndrome" EXACT [OMIM:160120, OMIM:genemap2]
synonym: "familial paroxysmal kinesigenic ataxia and continuous myokymia" EXACT []
synonym: "hereditary episodic ataxia caused by mutation in KCNA1" EXACT [MONDO:design_pattern]
synonym: "hereditary paroxysmal ataxia with neuromyotonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/]
synonym: "Isaacs-Mertens syndrome" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120]
synonym: "KCNA1 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myokymia 1" RELATED [OMIM:160120]
synonym: "myokymia 1 with or without hypomagnesemia" RELATED [OMIM:160120]
synonym: "myokymia with periodic ataxia" RELATED [OMIM:160120]
synonym: "paroxysmal ataxia with neuromyotonia, hereditary" RELATED [OMIM:160120]
xref: DOID:0050989 {source="MONDO:equivalentTo"}
xref: GARD:16641 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:37612/attributed", source="Orphanet:37612/ntbt", source="Orphanet:37612"}
xref: MEDGEN:318554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:160120 {source="Orphanet:37612/e", source="MONDO:equivalentTo", source="DOID:0050989", source="Orphanet:37612"}
xref: Orphanet:37612 {source="MONDO:equivalentTo", source="OMIM:160120"}
xref: Orphanet:972 {source="MONDO:relatedTo", source="OMIM:160120"}
xref: SCTID:421182009 {source="MONDO:equivalentTo"}
xref: UMLS:C1719788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318554"}
is_a: MONDO:0016227 {source="DOID:0050989", source="MONDO:Redundant", source="OMIM:160120", source="Orphanet:37612"} ! hereditary episodic ataxia
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
intersection_of: MONDO:0016227 ! hereditary episodic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6218 ! KCNA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6218 {source="MONDO:mim2gene_medgen"} ! KCNA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008048
name: autosomal dominant centronuclear myopathy
def: "An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." [Orphanet:169189]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169189"}
subset: orphanet_rare {source="Orphanet:169189"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "AD-CNM" EXACT [Orphanet:169189]
synonym: "autosomal dominant centronuclear myopathy" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant centronuclear myopathy caused by mutation in MYF6" EXACT [MONDO:design_pattern]
synonym: "centronuclear myopathy 1" EXACT [NCIT:C126689]
synonym: "centronuclear myopathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "centronuclear myopathy, autosomal, modifier of" EXACT [OMIM:160150, OMIM:genemap2]
synonym: "CNM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160150]
synonym: "CNM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614408]
synonym: "DNM2-related centronuclear myopathy" RELATED [GARD:0012719]
synonym: "myopathy, centronuclear, 1" EXACT [GARD:0012719, MONDO:Lexical, OMIM:160150]
synonym: "myopathy, centronuclear, 3" EXACT [MONDO:Lexical, OMIM:614408]
synonym: "myopathy, centronuclear, autosomal dominant" EXACT [OMIM:160150]
synonym: "myopathy, centronuclear, type 1" EXACT [MONDORULE:1, OMIM:160150]
synonym: "myopathy, centronuclear, type 3" EXACT [MONDORULE:1, OMIM:614408]
synonym: "myotubular myopathy, autosomal dominant" EXACT [OMIM:160150]
xref: DOID:0111217 {source="MONDO:equivalentTo"}
xref: DOID:0111223 {source="MONDO:equivalentTo"}
xref: GARD:12719 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:169189", source="Orphanet:169189/attributed", source="Orphanet:169189/ntbt"}
xref: MEDGEN:1645741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126689 {source="MONDO:equivalentTo"}
xref: OMIM:160150 {source="MONDO:equivalentTo"}
xref: OMIM:614408 {source="MONDO:equivalentObsolete"}
xref: Orphanet:169189 {source="MONDO:equivalentTo", source="OMIM:160150"}
xref: SCTID:716696006 {source="MONDO:equivalentTo"}
xref: UMLS:C4551952 {source="MEDGEN:1645741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002921 {source="NCIT:C126689", source="OMIM:160150"} ! congenital structural myopathy
is_a: MONDO:0018947 {source="DC-OMIM:160150", source="MONDO:Redundant", source="OMIM:160150", source="OMIM:614408", source="Orphanet:169189"} ! centronuclear myopathy
intersection_of: MONDO:0018947 ! centronuclear myopathy
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:160150", source="OMIM:614408", source="Orphanet:169189"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5906" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6239" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy" xsd:anyURI {source="GARD:0012719"}

[Term]
id: MONDO:0008049
name: myopathy, distal, infantile-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myopathy, distal, infantile-onset" EXACT [OMIM:160300]
xref: DOID:0070196 {source="MONDO:equivalentTo"}
xref: MEDGEN:860162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:160300 {source="MONDO:equivalentTo"}
xref: UMLS:C4011725 {source="MEDGEN:860162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018949 {source="DC-OMIM:160300"} ! distal myopathy

[Term]
id: MONDO:0008050
name: MYH7-related skeletal myopathy
def: "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." [Orphanet:59135]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10769", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:59135"}
subset: orphanet_rare {source="Orphanet:59135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal myopathy type 1" EXACT [Orphanet:59135]
synonym: "Gowers disease" EXACT [Orphanet:59135]
synonym: "Laing distal myopathy" EXACT [OMIM:160500]
synonym: "Laing early-onset distal myopathy" EXACT [Orphanet:59135]
synonym: "MPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160500, Orphanet:59135]
synonym: "MYH7-related skeletal myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40031/, PMID:22918376, PMID:24664454]
synonym: "myopathy distal, type 1" RELATED [GARD:0010769]
synonym: "myopathy, distal, 1" RELATED [MONDO:Lexical, OMIM:160500]
synonym: "myopathy, distal, early-onset, autosomal dominant" RELATED [OMIM:160500]
synonym: "myopathy, distal, type 1" EXACT [MONDORULE:1, OMIM:160500]
synonym: "myopathy, late distal hereditary" RELATED [OMIM:160500]
synonym: "myosin storage myopathy" RELATED [PMID:22918376, PMID:24664454]
xref: DOID:0070197 {source="MONDO:equivalentTo"}
xref: GARD:10769 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:59135", source="Orphanet:59135/attributed", source="Orphanet:59135/ntbt"}
xref: MEDGEN:1647391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:160500 {source="Orphanet:59135/e", source="MONDO:equivalentTo", source="Orphanet:59135"}
xref: Orphanet:59135 {source="OMIM:160500", source="MONDO:equivalentTo"}
xref: SCTID:764859001 {source="MONDO:equivalentTo"}
xref: UMLS:C4552004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647391"}
is_a: MONDO:0016195 {source="Orphanet:59135"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a: MONDO:0018949 {source="DC-OMIM:160500", source="MONDO:Redundant", source="Orphanet:59135"} ! distal myopathy
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7

[Term]
id: MONDO:0008051
name: tubular aggregate myopathy
def: "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." [https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3884", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2593"}
subset: orphanet_rare {source="Orphanet:2593"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "myopathy, tubular aggregate, 1" RELATED [MONDO:Lexical, OMIM:160565]
synonym: "myopathy, tubular aggregate, type 1" EXACT [MONDORULE:1, OMIM:160565]
synonym: "TAM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160565]
synonym: "tubular aggregate myopathy" EXACT CLINGEN_LABEL []
xref: DOID:0080089 {source="MONDO:equivalentTo"}
xref: GARD:3884 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:2593/attributed", source="Orphanet:2593/ntbt", source="Orphanet:2593"}
xref: MEDGEN:98050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:160565 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2593 {source="OMIM:160565", source="MONDO:equivalentTo"}
xref: UMLS:C0410207 {source="MEDGEN:98050", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="Orphanet:2593"} ! congenital myopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:160565"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy" xsd:anyURI {source="GARD:0003884"}

[Term]
id: MONDO:0008052
name: myopathy with storage of glycoproteins and Glycosaminoglycans
synonym: "myopathy with storage of glycoproteins and Glycosaminoglycans" EXACT [OMIM:160570]
xref: MEDGEN:371846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563542 {source="MONDO:equivalentTo"}
xref: OMIM:160570 {source="MONDO:equivalentTo"}
xref: UMLS:C1834532 {source="MEDGEN:371846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563542/inferred"} ! hereditary disease

[Term]
id: MONDO:0008053
name: myopia 2, autosomal dominant
synonym: "myopia 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:160700]
synonym: "MYP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160700]
xref: MEDGEN:331770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563541 {source="MONDO:equivalentTo"}
xref: OMIM:160700 {source="MONDO:equivalentTo"}
xref: UMLS:C1834531 {source="MEDGEN:331770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:160700", source="MESH:C563541", source="OMIM:160700"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008054
name: juvenile dermatomyositis
def: "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations." [Orphanet:93672]
subset: gard_rare {source="GARD:6805", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93672"}
subset: orphanet_rare {source="Orphanet:93672"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood dermatomyositis" EXACT [DOID:14203, NCIT:C27576]
synonym: "childhood type dermatomyositis" RELATED [DOID:14203]
synonym: "inflammation of myoseptum" EXACT []
synonym: "JDM" RELATED ABBREVIATION [GARD:0006805]
synonym: "JPM" RELATED ABBREVIATION [GARD:0006805]
synonym: "juvenile dermatomyositis" EXACT [DOID:14203, MONDO:0005054]
synonym: "juvenile DM" EXACT [Orphanet:93672]
synonym: "juvenile myositis" RELATED [GARD:0006805]
synonym: "myopathy, familial idiopathic inflammatory" RELATED [OMIM:160750]
synonym: "myoseptum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "myoseptumitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "myositis" RELATED [OMIM:160750]
xref: DOID:14203 {source="MONDO:equivalentTo", source="EFO:0000557"}
xref: EFO:0000557 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6805 {source="MONDO:GARD"}
xref: ICD10CM:M33.0 {source="Orphanet:93672", source="Orphanet:93672/e"}
xref: icd11.foundation:1428089375 {source="Orphanet:93672", source="MONDO:equivalentTo"}
xref: MedDRA:10008521 {source="Orphanet:93672", source="Orphanet:93672/e"}
xref: MEDGEN:120486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000598745 {source="MONDO:equivalentObsolete"}
xref: MESH:C538250 {source="Orphanet:93672", source="Orphanet:93672/e", source="MONDO:directSiblingOf"}
xref: MESH:D003882 {source="DOID:14203"}
xref: NANDO:2200418 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27576 {source="MONDO:equivalentTo", source="EFO:0000557", source="DOID:14203"}
xref: Orphanet:93672 {source="MONDO:equivalentTo", source="GARD:0006805"}
xref: SCTID:1212005 {source="MONDO:equivalentTo", source="EFO:0000557", source="DOID:14203"}
xref: UMLS:C0263666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120486"}
is_a: MONDO:0016367 {source="DOID:14203", source="EFO:0000557", source="MESH:C000598745", source="NCIT:C27576", source="https://orcid.org/0000-0002-6601-2165"} ! dermatomyositis
is_a: MONDO:0018010 {source="Orphanet:93672"} ! juvenile idiopathic inflammatory myopathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:2001089 ! myoseptum
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis" xsd:anyURI {source="GARD:0006805"}

[Term]
id: MONDO:0008055
name: myotonia congenita, autosomal dominant
subset: gard_rare {source="GARD:6176", source="MONDO:GARD"}
subset: rare
synonym: "congenital myotonia, autosomal dominant form" EXACT [DOID:2106]
synonym: "myotonia congenita, autosomal dominant" EXACT [OMIM:160800]
synonym: "myotonia congenita, dominant" EXACT [OMIM:160800, OMIM:genemap2]
synonym: "myotonia Levior" RELATED [OMIM:160800]
synonym: "Thomsen and Becker disease" BROAD [Orphanet:614]
synonym: "Thomsen disease" EXACT [DOID:2106, OMIM:160800]
synonym: "Thomsen's disease" EXACT [DOID:2106]
xref: DOID:0081336 {source="MONDO:equivalentTo"}
xref: GARD:6176 {source="MONDO:GARD"}
xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:422446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:160800 {source="MONDO:equivalentTo"}
xref: Orphanet:614 {source="OMIM:160800"}
xref: SCTID:57938005 {source="MONDO:equivalentTo"}
xref: SCTID:8960007 {source="MONDO:relatedTo"}
xref: UMLS:C2936781 {source="MEDGEN:422446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009710 {source="DC-OMIM:160800", source="OMIM:160800"} ! Thomsen and Becker disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2019 {source="MONDO:mim2gene_medgen"} ! CLCN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008056
name: myotonic dystrophy type 1
def: "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." [Orphanet:273]
subset: gard_rare {source="GARD:8310", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1075", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:273"}
subset: orphanet_rare {source="Orphanet:273"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital myotonic dystrophy" RELATED EXCLUDE [DOID:11722]
synonym: "DM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160900, Orphanet:273]
synonym: "DMPK myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dystrophia myotonica" EXACT [DOID:11722, OMIM:160900]
synonym: "dystrophia myotonica 1" RELATED [OMIM:160900]
synonym: "dystrophia myotonica type 1" RELATED [GARD:0008310]
synonym: "MD1" EXACT ABBREVIATION [Orphanet:273]
synonym: "Myotonic Dystrophy" EXACT [NORD:1075]
synonym: "myotonic dystrophy 1" RELATED [MONDO:Lexical, OMIM:160900]
synonym: "myotonic dystrophy caused by mutation in DMPK" EXACT [MONDO:design_pattern]
synonym: "myotonic dystrophy of Steinert" EXACT [DOID:11722]
synonym: "myotonic dystrophy type 1" EXACT [MONDORULE:1, OMIM:160900, Orphanet:273]
synonym: "Steinert disease" EXACT [DOID:11722, OMIM:160900, Orphanet:273]
synonym: "Steinert myotonic dystrophy" RELATED [Orphanet:273]
synonym: "Steinert myotonic dystrophy syndrome" EXACT [NCIT:C84679]
synonym: "Steinert syndrome" EXACT [NCIT:C84679]
synonym: "Steinert's disease" RELATED [GARD:0008310]
xref: DOID:11722 {source="MONDO:equivalentTo"}
xref: GARD:8310 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:273/inclusion", source="Orphanet:273/ntbt", source="Orphanet:273"}
xref: ICD10CM:G71.11 {source="DOID:11722"}
xref: ICD9:359.21 {source="DOID:11722"}
xref: MEDGEN:886881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538008 {source="Orphanet:273/e", source="Orphanet:273"}
xref: MESH:D009223 {source="DOID:11722"}
xref: NCIT:C84679 {source="MONDO:equivalentTo"}
xref: NCIT:C84914 {source="DOID:11722"}
xref: NORD:1075 {source="MONDO:NORD"}
xref: OMIM:160900 {source="Orphanet:273/e", source="DOID:11722", source="MONDO:equivalentTo", source="Orphanet:273"}
xref: Orphanet:273 {source="OMIM:160900", source="MONDO:equivalentTo"}
xref: SCTID:155096007 {source="DOID:11722"}
xref: SCTID:267713009 {source="DOID:11722"}
xref: SCTID:77956009 {source="DOID:11722"}
xref: UMLS:C3250443 {source="MEDGEN:886881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0016107 {source="DC-OMIM:160900", source="DOID:11722", source="MONDO:Redundant", source="NCIT:C84679", source="OMIM:160900", source="Orphanet:273"} ! myotonic dystrophy
intersection_of: MONDO:0016107 ! myotonic dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2933 ! DMPK
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2933 {source="MONDO:mim2gene_medgen"} ! DMPK

[Term]
id: MONDO:0008057
name: Carney complex, type 1
def: "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15090", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carney complex caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern]
synonym: "Carney complex, type 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:160980]
synonym: "Carney Myxoma-endocrine Complex" RELATED [OMIM:160980]
synonym: "Carney syndrome" RELATED [OMIM:160980]
synonym: "CNC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160980]
synonym: "lamb syndrome" RELATED [OMIM:160980]
synonym: "myxoma, spotty pigmentation, and endocrine overactivity" RELATED [OMIM:160980]
synonym: "name syndrome" RELATED [OMIM:160980]
synonym: "PRKAR1A Carney complex" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15090 {source="MONDO:GARD"}
xref: MEDGEN:388559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:160980 {source="MONDO:equivalentTo"}
xref: Orphanet:1359 {source="OMIM:160980"}
xref: UMLS:C2607929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388559"}
is_a: MONDO:0015285 {source="DC-OMIM:160980", source="MONDO:Redundant"} ! Carney complex
intersection_of: MONDO:0015285 ! Carney complex
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 ! PRKAR1A
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:160980"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 {source="MONDO:mim2gene_medgen"} ! PRKAR1A

[Term]
id: MONDO:0008058
name: cylindrical spirals myopathy
def: "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated." [Orphanet:171886]
subset: gard_rare {source="GARD:11906", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:171886"}
subset: orphanet_rare {source="Orphanet:171886"}
subset: rare
synonym: "myotonic myopathy with cylindrical spirals" RELATED [OMIM:160990]
xref: DOID:0080103 {source="MONDO:equivalentTo"}
xref: GARD:11906 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:171886/attributed", source="Orphanet:171886/ntbt", source="Orphanet:171886"}
xref: MEDGEN:371817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563535 {source="MONDO:equivalentTo"}
xref: OMIM:160990 {source="DOID:0080103", source="MONDO:equivalentTo"}
xref: Orphanet:171886 {source="MONDO:equivalentTo"}
xref: SCTID:764525006 {source="MONDO:equivalentTo"}
xref: UMLS:C1834418 {source="MONDO:equivalentTo", source="MEDGEN:371817", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="DOID:0080103", source="Orphanet:171886"} ! congenital myopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy" xsd:anyURI {source="GARD:0011906"}

[Term]
id: MONDO:0008059
name: Naegeli-Franceschetti-Jadassohn syndrome
def: "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." [Orphanet:69087]
subset: gard_rare {source="GARD:3912", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69087"}
subset: orphanet_rare {source="Orphanet:69087"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NAEGELI syndrome" RELATED [OMIM:161000]
synonym: "Naegeli syndrome" EXACT [Orphanet:69087]
synonym: "NAEGELI-Franceschetti-Jadassohn syndrome" RELATED [OMIM:161000]
synonym: "Naegeli-Franceschetti-Jadassohn syndrome" EXACT [OMIM:161000]
synonym: "NFJ syndrome" EXACT [Orphanet:69087]
synonym: "Nfj syndrome" RELATED [OMIM:161000]
synonym: "NFJS" RELATED ABBREVIATION [GARD:0003912, OMIM:161000]
synonym: "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy" RELATED [GARD:0003912]
xref: DOID:0111528 {source="MONDO:equivalentTo"}
xref: GARD:3912 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:69087", source="Orphanet:69087/attributed", source="Orphanet:69087/ntbt"}
xref: MEDGEN:91010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538331 {source="MONDO:equivalentTo"}
xref: OMIM:161000 {source="MONDO:equivalentTo", source="Orphanet:69087", source="Orphanet:69087/e"}
xref: Orphanet:69087 {source="MONDO:equivalentTo", source="OMIM:161000"}
xref: SCTID:239084001 {source="MONDO:equivalentTo"}
xref: UMLS:C0343111 {source="MEDGEN:91010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="MESH:C538331", source="Orphanet:69087"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019289 {source="Orphanet:69087"} ! hyperpigmentation of the skin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6416 {source="MONDO:mim2gene_medgen"} ! KRT14

[Term]
id: MONDO:0008060
name: nonsyndromic congenital nail disorder 1
def: "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails." [Orphanet:79153]
subset: gard_rare {source="GARD:10363", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79153"}
subset: orphanet_rare {source="Orphanet:79153"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant nail dysplasia" RELATED [Orphanet:79153]
synonym: "autosomal recessive nail dysplasia" RELATED [Orphanet:280654]
synonym: "claw-Shaped nails" RELATED [OMIM:614157]
synonym: "FZD6 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "idiopathic trachyonychia" RELATED [Orphanet:79153]
synonym: "inherited isolated nail anomaly caused by mutation in FZD6" EXACT [MONDO:design_pattern]
synonym: "nail disorder, nonsyndromic congenital 1" RELATED [GARD:0010363]
synonym: "nail disorder, nonsyndromic congenital, 1" RELATED [MONDO:Lexical, OMIM:161050]
synonym: "nail disorder, nonsyndromic congenital, 10" RELATED [MONDO:Lexical, OMIM:614157]
synonym: "nail disorder, nonsyndromic congenital, type 10" EXACT [MONDORULE:2, OMIM:614157]
synonym: "nail Growth" RELATED [OMIM:161050]
synonym: "NDNC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161050]
synonym: "NDNC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614157]
synonym: "nonsyndromic congenital nail disorder 10" EXACT [MONDO:0013596]
synonym: "nonsyndromic congenital nail disorder type 1" EXACT [DOID:0080079, MONDORULE:1]
synonym: "nonsyndromic congenital nail disorder type 10" EXACT [DOID:0080088, MONDORULE:2]
synonym: "onychauxis, hyponychia, and onycholysis" RELATED [OMIM:614157]
synonym: "onychodystrophy totalis" EXACT [Orphanet:79153]
synonym: "onychodystrophy totalis, isolated" RELATED [OMIM:161050]
synonym: "sandpaper nails" RELATED [GARD:0010363]
synonym: "trachyonychia" RELATED [GARD:0010363]
synonym: "twenty nail dystrophy" RELATED [GARD:0010363]
synonym: "twenty-nail dystrophy" EXACT [DOID:0080079, OMIM:161050, Orphanet:79153]
xref: DOID:0080079 {source="MONDO:equivalentTo"}
xref: DOID:0080088 {source="MONDO:equivalentObsolete"}
xref: GARD:10363 {source="MONDO:GARD"}
xref: ICD10CM:L60.3 {source="Orphanet:79153", source="Orphanet:79153/attributed", source="Orphanet:79153/ntbt"}
xref: ICD10CM:Q84.6 {source="Orphanet:280654/attributed", source="Orphanet:280654/ntbt", source="Orphanet:280654"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562907 {source="MONDO:equivalentTo"}
xref: OMIM:161050 {source="DOID:0080079", source="MONDO:equivalentTo", source="Orphanet:79153", source="Orphanet:79153/e"}
xref: Orphanet:280654 {source="OMIM:614157"}
xref: Orphanet:79153 {source="MONDO:equivalentTo", source="OMIM:161050"}
xref: SCTID:238719003 {source="MONDO:equivalentTo"}
xref: UMLS:C0406443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96056"}
is_a: MONDO:0019284 {source="DC-OMIM:161050", source="MONDO:Redundant", source="OMIM:161050", source="Orphanet:79153"} ! inherited isolated nail anomaly
intersection_of: MONDO:0019284 ! inherited isolated nail anomaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4044 ! FZD6
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0008061
name: nail-patella syndrome
def: "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." [Orphanet:2614]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1488"}
subset: ordo_disorder {source="Orphanet:2614"}
subset: ordo_malformation_syndrome {source="Orphanet:2614"}
subset: orphanet_rare {source="Orphanet:2614"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthro-onychodysplasia" RELATED [GARD:0007160]
synonym: "Fong disease" EXACT [DOID:9467]
synonym: "hereditary onychoostedysplasia" EXACT [DOID:9467]
synonym: "hereditary Osteo-onychodysplasia" EXACT [NCIT:C75120]
synonym: "iliac horn syndrome" EXACT [DOID:9467]
synonym: "Nail Patella Syndrome" EXACT [NORD:1488]
synonym: "nail patella syndrome" EXACT [DOID:9467]
synonym: "nail-patella syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:161200]
synonym: "NPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161200]
synonym: "NPS 1" EXACT [GARD:0007160]
synonym: "NPS1" EXACT [OMIM:161200]
synonym: "onychoosteodysplasia" EXACT [OMIM:161200, Orphanet:2614]
synonym: "osteo-onychodysplasia" EXACT [GARD:0007160]
synonym: "Turner-Kieser syndrome" EXACT [OMIM:161200, Orphanet:2614]
synonym: "Turner-Kiser syndrome" EXACT [DOID:9467]
xref: DOID:9467 {source="MONDO:equivalentTo"}
xref: GARD:7160 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2614/inclusion", source="Orphanet:2614", source="Orphanet:2614/ntbt", source="DOID:9467"}
xref: icd11.foundation:1121867410 {source="MONDO:equivalentTo", source="Orphanet:2614"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063431 {source="Orphanet:2614", source="Orphanet:2614/e"}
xref: MEDGEN:10257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009261 {source="MONDO:equivalentTo", source="Orphanet:2614", source="DOID:9467", source="Orphanet:2614/e"}
xref: NANDO:1200967 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200132 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75120 {source="MONDO:equivalentTo", source="DOID:9467"}
xref: NORD:1488 {source="MONDO:NORD"}
xref: OMIM:161200 {source="MONDO:equivalentTo", source="Orphanet:2614", source="DOID:9467", source="Orphanet:2614/e"}
xref: Orphanet:2614 {source="MONDO:equivalentTo", source="OMIM:161200"}
xref: SCTID:22199006 {source="MONDO:equivalentTo", source="DOID:9467"}
xref: UMLS:C0027341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10257"}
is_a: MONDO:0000426 {source="DOID:9467", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75120"} ! syndromic disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
relationship: excluded_subClassOf MONDO:0015163 {source="Orphanet:2614", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary glomerular disease
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:161200", source="Orphanet:2614"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6654 {source="MONDO:mim2gene_medgen"} ! LMX1B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome" xsd:anyURI {source="GARD:0007160"}

[Term]
id: MONDO:0008062
name: narcolepsy 1
def: "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." [NCIT:C84618]
subset: gard_rare {source="GARD:15091", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataplexy" RELATED [OMIM:161400]
synonym: "HCRT narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "narcolepsy 1" EXACT [MONDO:Lexical, OMIM:161400]
synonym: "narcolepsy caused by mutation in HCRT" EXACT [MONDO:design_pattern]
synonym: "narcoleptic syndrome 1" RELATED [OMIM:161400]
synonym: "NRCLP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161400]
xref: GARD:15091 {source="MONDO:GARD"}
xref: MEDGEN:371809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563534 {source="MONDO:equivalentTo"}
xref: NCIT:C84618 {source="MONDO:equivalentTo"}
xref: OMIM:161400 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:161400"}
xref: SCTID:46263000 {source="MONDO:equivalentTo"}
xref: UMLS:C1834372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371809"}
is_a: MONDO:0016158 {source="Orphanet:2073/btnt"} ! narcolepsy-cataplexy syndrome
is_a: MONDO:0100554 {source="MONDO:Redundant", source="OMIM:161400"} ! hereditary narcolepsy
intersection_of: MONDO:0021107 ! narcolepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4847 ! HCRT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4847 {source="MONDO:mim2gene_medgen"} ! HCRT

[Term]
id: MONDO:0008063
name: nasal alar collapse, bilateral
synonym: "nasal alar collapse, bilateral" EXACT [OMIM:161470]
xref: MEDGEN:331728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563533 {source="MONDO:equivalentTo"}
xref: OMIM:161470 {source="MONDO:equivalentTo"}
xref: UMLS:C1834371 {source="MEDGEN:331728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008064
name: nasal bones, absence of
synonym: "nasal bones, absence of" EXACT [OMIM:161480]
xref: MEDGEN:90946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562753 {source="MONDO:equivalentTo"}
xref: OMIM:161480 {source="MONDO:equivalentTo"}
xref: UMLS:C0339851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90946"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008065
name: nasal groove, familial transverse
synonym: "nasal groove, familial transverse" EXACT [OMIM:161500]
xref: MEDGEN:322400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:161500 {source="MONDO:equivalentTo"}
xref: UMLS:C1834370 {source="MONDO:equivalentTo", source="MEDGEN:322400", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008066
name: nasal hyperpigmentation, familial transverse
synonym: "nasal hyperpigmentation, familial transverse" EXACT [OMIM:161530]
xref: MEDGEN:331727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:161530 {source="MONDO:equivalentTo"}
xref: UMLS:C1834369 {source="MEDGEN:331727", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008067
name: nasopharyngeal carcinoma, susceptibility to, 2
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "nasopharyngeal carcinoma, susceptibility to, 2" EXACT [OMIM:161550]
synonym: "nasopharyngeal carcinoma, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:161550]
synonym: "NPCA2" RELATED ABBREVIATION [OMIM:161550]
synonym: "Npca2" RELATED [OMIM:161550]
xref: MEDGEN:413336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:161550 {source="MONDO:equivalentTo"}
xref: Orphanet:150 {source="OMIM:161550"}
xref: UMLS:C2750548 {source="MEDGEN:413336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:161550"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015459 {source="DC-OMIM:161550"} ! nasopharyngeal carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0008068
name: obsolete navicular bone, accessory
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "navicular bone, accessory" EXACT [OMIM:161600]
xref: MESH:C536002 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:161600 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008069
name: necrotizing encephalomyelopathy, subacute, of Leigh, adult
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Leigh syndrome, adult" RELATED [OMIM:161700]
synonym: "necrotizing encephalomyelopathy, subacute, of Leigh, adult" EXACT [OMIM:161700]
xref: MEDGEN:331718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563530 {source="MONDO:equivalentTo"}
xref: OMIM:161700 {source="MONDO:equivalentTo"}
xref: Orphanet:506 {source="OMIM:161700"}
xref: UMLS:C1834340 {source="MEDGEN:331718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009723 {source="MESH:C563530"} ! Leigh syndrome
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0008070
name: nemaline myopathy 3
def: "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129870]
subset: gard_rare {source="GARD:10111", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98904"}
subset: orphanet_rare {source="Orphanet:98904"}
subset: rare
synonym: "ACTA1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "actin myopathy" EXACT [Orphanet:98904]
synonym: "congenital myopathy with excess of thin filaments" EXACT [MONDO:0020342]
synonym: "myopathy, actin, congenital, with cores" RELATED [OMIM:161800]
synonym: "myopathy, actin, congenital, with Excess of thin myofilaments" RELATED [OMIM:161800]
synonym: "NEM3" EXACT ABBREVIATION [DOID:0110927, MONDO:Lexical, OMIM:161800]
synonym: "nemaline myopathy 3" EXACT [MONDO:Lexical, OMIM:161800]
synonym: "nemaline myopathy 3, autosomal dominant or recessive" EXACT [DOID:0110927]
synonym: "nemaline myopathy 3, with intranuclear rods" RELATED [OMIM:161800]
synonym: "nemaline myopathy caused by mutation in ACTA1" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 3" EXACT [DOID:0110927, MONDORULE:1, OMIM:161800]
xref: DOID:0110927 {source="MONDO:equivalentTo"}
xref: GARD:10111 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:98904/attributed", source="Orphanet:98904/ntbt", source="Orphanet:98904"}
xref: MEDGEN:777997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579880 {source="MONDO:equivalentTo"}
xref: MESH:C580202 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C129870 {source="MONDO:equivalentTo"}
xref: OMIM:161800 {source="MONDO:equivalentTo", source="DOID:0110927"}
xref: Orphanet:607 {source="OMIM:161800"}
xref: Orphanet:98904 {source="MONDO:equivalentTo"}
xref: SCTID:702349003 {source="MONDO:equivalentTo"}
xref: UMLS:C3711389 {source="MEDGEN:777997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:0110927/inferred", source="MONDO:Redundant", source="NCIT:C129870"} ! myopathy
is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy
is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110927", source="MESH:C580202", source="MONDO:Redundant", source="OMIM:161800"} ! nemaline myopathy
is_a: MONDO:0019952 {source="OMIM:161800"} ! congenital myopathy
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! alpha-actinopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/129 ! ACTA1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/129 {source="MONDO:mim2gene_medgen"} ! ACTA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6036" xsd:anyURI

[Term]
id: MONDO:0008071
name: autosomal dominant progressive nephropathy with hypertension
subset: gard_rare {source="GARD:16772", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88659"}
subset: orphanet_rare {source="Orphanet:88659"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nephritis, familial, without deafness or ocular defect" RELATED [OMIM:161900]
synonym: "nephropathy, familial" RELATED [OMIM:161900]
synonym: "nephropathy-hypertension" EXACT [OMIM:161900, OMIM:genemap2]
synonym: "renal failure, adult-onset" RELATED [OMIM:161900]
synonym: "renal failure, progressive, with hypertension" RELATED [MONDO:Lexical, OMIM:161900]
synonym: "RFH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161900]
xref: GARD:16772 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:88659", source="Orphanet:88659/attributed", source="Orphanet:88659/ntbt"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562889 {source="MONDO:equivalentTo"}
xref: OMIM:161900 {source="MONDO:equivalentTo", source="Orphanet:88659", source="Orphanet:88659/e"}
xref: Orphanet:88659 {source="OMIM:161900", source="MONDO:equivalentTo"}
xref: SCTID:703310005 {source="MONDO:equivalentTo"}
xref: UMLS:C0403443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98012"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008072
name: IgA nephropathy, susceptibility to, 1
subset: predisposition
synonym: "berger disease" RELATED [OMIM:161950]
synonym: "glomerulonephritis, IgA" RELATED [GARD:0000863]
synonym: "IgA nephropathy, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:161950]
synonym: "Igan" RELATED [OMIM:161950]
synonym: "IGAN1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:161950]
synonym: "nephritis, IgA type" RELATED [OMIM:161950]
xref: MEDGEN:463619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:161950 {source="MONDO:equivalentTo"}
xref: Orphanet:34145 {source="OMIM:161950"}
xref: UMLS:C3160719 {source="MEDGEN:463619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:161950", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005342 {source="OMIM:161950", source="https://orcid.org/0000-0001-5208-3432"} ! IgA glomerulonephritis
relationship: predisposes_towards MONDO:0005342 {source="OMIM:161950"} ! IgA glomerulonephritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0008073
name: familial juvenile hyperuricemic nephropathy type 1
def: "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." [Orphanet:209886]
subset: gard_rare {source="GARD:10679", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:827"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88950"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "ADMCKD2" RELATED ABBREVIATION [GARD:0010679]
synonym: "ADTKD-UMOD" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/50066/, Orphanet:88950]
synonym: "autosomal dominant medullary cystic kidney disease type 2" EXACT [Orphanet:88950]
synonym: "autosomal dominant medullary cystic kidney disease with hyperuricemia" EXACT []
synonym: "Autosomal Dominant Tubulo-Interstitial Kidney Disease" EXACT [NORD:827]
synonym: "autosomal dominant tubulointerstitial kidney disease - UMOD" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40066/]
synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD" EXACT [https://clinicalgenome.org/affiliation/50066/]
synonym: "familial juvenile gouty nephropathy" BROAD [Orphanet:209886]
synonym: "familial juvenile hyperuricaemic nephropathy" RELATED [GARD:0006806]
synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD" EXACT [MONDO:design_pattern]
synonym: "familial nephropathy with gout" BROAD [Orphanet:209886]
synonym: "FJHN type 1" EXACT [Orphanet:209886]
synonym: "glomerulocystic kidney disease with hyperuricemia and isosthenuria" EXACT [OMIM:609886]
synonym: "gouty nephropathy, familial juvenile" BROAD [OMIM:162000]
synonym: "HNFJ1" EXACT ABBREVIATION [OMIM:162000]
synonym: "hyperuricemic nephropathy, familial juvenile" BROAD [OMIM:162000]
synonym: "hyperuricemic nephropathy, familial juvenile, 1" EXACT [MONDO:Lexical, OMIM:162000]
synonym: "hyperuricemic nephropathy, familial juvenile, type 1" EXACT [MONDORULE:1, OMIM:162000]
synonym: "MCKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603860]
synonym: "medullary cystic kidney disease 2" EXACT [MONDO:Lexical, OMIM:603860]
synonym: "medullary cystic kidney disease 2, autosomal dominant" RELATED [OMIM:603860]
synonym: "medullary cystic kidney disease type 2" EXACT [MONDORULE:1, OMIM:603860]
synonym: "medullary cystic kidney disease type II" EXACT [NCIT:C123172]
synonym: "nephropathy, familial, with gout" BROAD [OMIM:162000]
synonym: "tubulointerstitial kidney disease, autosomal dominant, 1" EXACT [OMIM:162000, OMIM:genemap2]
synonym: "UMOD familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UMOD-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:209886]
synonym: "UMOD-associated FJHN" EXACT [Orphanet:209886]
synonym: "UMOD-related ADTKD" EXACT [Orphanet:88950]
synonym: "UMOD-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88950]
synonym: "UMOD-related kidney disease" EXACT [GARD:0006806]
synonym: "uromodulin storage disease" EXACT []
synonym: "uromodulin-associated kidney disease" EXACT [GARD:0006806]
xref: GARD:10679 {source="MONDO:GARD"}
xref: ICD10CM:Q61.5 {source="Orphanet:88950", source="Orphanet:88950/attributed", source="Orphanet:88950/ntbt"}
xref: MEDGEN:1645893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563693 {source="MONDO:equivalentTo"}
xref: NCIT:C123172 {source="MONDO:equivalentTo"}
xref: NORD:827 {source="MONDO:NORD"}
xref: OMIM:162000 {source="Orphanet:209886/e", source="MONDO:equivalentTo", source="GARD:0006806", source="Orphanet:209886"}
xref: OMIM:603860 {source="MONDO:equivalentObsolete"}
xref: OMIM:609886 {source="MONDO:equivalentObsolete"}
xref: Orphanet:209886 {source="MONDO:equivalentObsolete", source="GARD:0006806", source="OMIM:162000"}
xref: Orphanet:34149 {source="OMIM:603860", source="MONDO:relatedTo", source="OMIM:609886"}
xref: Orphanet:88950 {source="MONDO:equivalentTo"}
xref: SCTID:445503007 {source="MONDO:equivalentTo"}
xref: UMLS:C4551496 {source="MEDGEN:1645893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000608 {source="DC-OMIM:162000", source="MONDO:Redundant", source="OMIM:162000"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0002473 {source="MONDO:Redundant", source="NCIT:C123172"} ! cystic kidney disease
is_a: MONDO:0008264 {source="Orphanet:88950"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
is_a: MONDO:0019236 {source="Orphanet:209886"} ! inborn disorder of purine metabolism
is_a: MONDO:0019741 {source="Orphanet:209886"} ! familial cystic renal disease
intersection_of: MONDO:0000608 ! familial juvenile hyperuricemic nephropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12559 ! UMOD
relationship: excluded_subClassOf MONDO:0008264 {source="Orphanet:34149/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12559 {source="GARD:0010679", source="MONDO:mim2gene_medgen"} ! UMOD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1880" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4444" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy" xsd:anyURI {source="GARD:0006806"}

[Term]
id: MONDO:0008074
name: obsolete nerve growth factor, alpha subunit
synonym: "nerve growth factor, ALPHA SUBUNIT" EXACT [OMIM:162020]
synonym: "nerve growth factor, alpha subunit" EXACT [MONDO:Lexical, OMIM:162020]
synonym: "NGFA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:162020]
xref: OMIM:162020 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3358" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008075
name: schwannomatosis
def: "The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." [https://orcid.org/0000-0001-5208-3432, Orphanet:93921]
subset: gard_rare {source="GARD:4768", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93921"}
subset: orphanet_rare {source="Orphanet:93921"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital cutaneous neurilemmomatosis" RELATED [GARD:0004768]
synonym: "neurilemmomatosis" EXACT DEPRECATED [DOID:3204, Orphanet:93921, Wikipedia:Schwannomatosis]
synonym: "neurilemmomatosis congenital cutaneous" RELATED [GARD:0004768]
synonym: "neurilemmomatosis, congenital cutaneous" RELATED [OMIM:162091]
synonym: "neurinoma" RELATED DEPRECATED [Wikipedia:Schwannomatosis]
synonym: "Neurinomatosis" EXACT [NCIT:C6557]
synonym: "neurofibromatosis type 3" EXACT []
synonym: "NF3" EXACT ABBREVIATION [Orphanet:93921]
synonym: "Schwannomatosis" EXACT [Orphanet:93921]
synonym: "schwannomatosis" EXACT [MONDO:0002557]
xref: DOID:3204 {source="MONDO:equivalentTo"}
xref: GARD:4768 {source="MONDO:GARD"}
xref: ICD10CM:Q85.0 {source="Orphanet:93921/attributed", source="Orphanet:93921/ntbt", source="Orphanet:93921"}
xref: ICD10CM:Q85.03 {source="DOID:3204"}
xref: ICD9:237.73 {source="DOID:3204"}
xref: ICDO:9560/1 {source="NCIT:C6557"}
xref: MEDGEN:234775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536641 {source="Orphanet:93921/e", source="DOID:3204", source="Orphanet:93921"}
xref: NCIT:C6557 {source="MONDO:equivalentTo", source="DOID:3204"}
xref: OMIMPS:162091 {source="MONDO:equivalentTo"}
xref: Orphanet:93921 {source="OMIM:162091", source="MONDO:equivalentTo"}
xref: SCTID:142071000119101 {source="DOID:3204"}
xref: UMLS:C1335929 {source="MEDGEN:234775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002546 {source="DOID:3204", source="NCIT:C6557"} ! schwannoma
is_a: MONDO:0019289 {source="Orphanet:93921"} ! hyperpigmentation of the skin
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021061 {source="Wikipedia:Schwannomatosis"} ! neurofibromatosis
relationship: has_characteristic HP:0000006 {source="Orphanet:93921"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:162091"} ! inherited

[Term]
id: MONDO:0008076
name: amyotrophic neuralgia
def: "An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm." [OMIM:162100]
subset: gard_rare {source="GARD:3955", source="MONDO:GARD"}
subset: rare
synonym: "amyotrophy, hereditary neuralgic" EXACT [MONDO:Lexical, OMIM:162100]
synonym: "amyotrophy, hereditary neuralgic, with predilection for brachial plexus" EXACT [OMIM:162100]
synonym: "brachial plexus neuropathy, hereditary" EXACT [OMIM:162100]
synonym: "hereditary brachial plexus neuropathy" EXACT [GARD:0003955]
synonym: "hereditary neuralgic amyotrophy" EXACT [GARD:0003955]
synonym: "HNA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162100]
synonym: "neuralgic amyotrophy" RELATED [DOID:10383, ICD9CM:353.5]
synonym: "neuritis with brachial predilection" EXACT [OMIM:162100]
xref: DOID:10383 {source="MONDO:equivalentTo"}
xref: GARD:3955 {source="MONDO:GARD"}
xref: ICD10CM:G54.5 {source="DOID:10383"}
xref: ICD9:353.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10383"}
xref: MEDGEN:320318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020968 {source="DOID:10383", source="MONDO:directSiblingOf"}
xref: OMIM:162100 {source="MONDO:equivalentTo", source="DOID:10383"}
xref: Orphanet:2901 {source="OMIM:162100"}
xref: SCTID:193113006 {source="DOID:10383"}
xref: SCTID:26609002 {source="MONDO:equivalentTo", source="DOID:10383"}
xref: SCTID:3548001 {source="DOID:10383"}
xref: UMLS:C1834304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320318"}
is_a: MONDO:0006683 {source="DOID:10383"} ! brachial plexus neuropathy
relationship: excluded_subClassOf MONDO:0017362 {source="Orphanet:2901/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! neuralgic amyotrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7323 {source="MONDO:mim2gene_medgen"} ! SEPTIN9

[Term]
id: MONDO:0008077
name: obsolete neurofibromatosis, type 1
is_obsolete: true
replaced_by: MONDO:0018975

[Term]
id: MONDO:0008078
name: neurofibromatosis, familial spinal
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fsnf" RELATED [OMIM:162210]
synonym: "neurofibromatosis, familial spinal" EXACT [OMIM:162210]
xref: DOID:0070482 {source="MONDO:equivalentTo"}
xref: MEDGEN:320296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563523 {source="MONDO:equivalentTo"}
xref: OMIM:162210 {source="MONDO:equivalentTo"}
xref: Orphanet:636 {source="OMIM:162210"}
xref: UMLS:C1834235 {source="MEDGEN:320296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018975 {source="DC-OMIM:162210"} ! neurofibromatosis type 1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162210"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1

[Term]
id: MONDO:0008079
name: neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
synonym: "duodenal carcinoid syndrome" RELATED [OMIM:162240]
synonym: "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome" EXACT [OMIM:162240]
synonym: "Npdc syndrome" RELATED [OMIM:162240]
xref: MEDGEN:331696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563522 {source="MONDO:equivalentTo"}
xref: OMIM:162240 {source="MONDO:equivalentTo"}
xref: UMLS:C1834232 {source="MEDGEN:331696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563522/inferred"} ! hereditary disease

[Term]
id: MONDO:0008080
name: neurofibromatosis, type III, mixed central and peripheral
subset: gard_rare {source="GARD:15094", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neurofibromas, palmar cutaneous" RELATED [OMIM:162260]
synonym: "neurofibromatosis, type III, mixed central and peripheral" EXACT [MONDO:Lexical, OMIM:162260]
synonym: "neurofibromatosis, type III, of Riccardi" RELATED [OMIM:162260]
synonym: "neurofibromatosis, type III, Riccardi type" RELATED [OMIM:162260]
synonym: "Nf 3" RELATED [OMIM:162260]
synonym: "NF3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162260]
xref: GARD:15094 {source="MONDO:GARD"}
xref: MEDGEN:419422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537389 {source="MONDO:equivalentTo"}
xref: OMIM:162260 {source="MONDO:equivalentTo"}
xref: Orphanet:93921 {source="OMIM:162260"}
xref: SCTID:254240003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419422"}
is_a: MONDO:0008075 {source="Orphanet:93921/btnt"} ! schwannomatosis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162260"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0008081
name: neurofibromatosis, type IV, of Riccardi
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neurofibromatosis type 4" EXACT []
synonym: "neurofibromatosis type IV" EXACT []
synonym: "neurofibromatosis, atypical" RELATED [OMIM:162270]
synonym: "neurofibromatosis, type IV, of RICCARDI" RELATED [OMIM:162270]
synonym: "neurofibromatosis, type IV, of Riccardi" EXACT [MONDO:Lexical, OMIM:162270]
synonym: "neurofibromatosis, variant form(S) of" RELATED [OMIM:162270]
synonym: "Nf 4" RELATED [OMIM:162270]
synonym: "NF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162270]
synonym: "type IV neurofibromatosis of Riccardi" EXACT []
xref: MEDGEN:67393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537392 {source="MONDO:equivalentTo"}
xref: OMIM:162270 {source="MONDO:equivalentTo"}
xref: UMLS:C0220695 {source="MEDGEN:67393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021061 {source="MESH:C537392", source="https://orcid.org/0000-0002-6601-2165"} ! neurofibromatosis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162270"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0008082
name: multiple endocrine neoplasia type 2B
def: "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus." [Orphanet:247709]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "men 2B" EXACT [NCIT:C3227]
synonym: "men IIB" EXACT [NCIT:C3227]
synonym: "men type 2B" EXACT [NCIT:C3227]
synonym: "men type IIB" EXACT [DOID:10016, NCIT:C3227]
synonym: "MEN2B" EXACT ABBREVIATION [DOID:10016, MONDO:Lexical, OMIM:162300, Orphanet:247709]
synonym: "mucosal Neuroma syndrome" RELATED [OMIM:162300]
synonym: "mucosal neuroma syndrome" EXACT [DOID:10016]
synonym: "multiple endocrine adenomatosis type IIB" EXACT [NCIT:C3227]
synonym: "multiple endocrine neoplasia IIB" EXACT [OMIM:162300, OMIM:genemap2]
synonym: "multiple endocrine neoplasia type 2B" EXACT CLINGEN_LABEL [DOID:10016, NCIT:C3227]
synonym: "multiple endocrine neoplasia type 3" EXACT [Orphanet:247709]
synonym: "multiple endocrine neoplasia type IIB" EXACT [NCIT:C3227]
synonym: "multiple endocrine neoplasia type III" EXACT [NCIT:C3227]
synonym: "multiple endocrine neoplasia, type 2B" RELATED [OMIM:162300]
synonym: "multiple endocrine neoplasia, type 3" EXACT [DOID:10016]
synonym: "multiple endocrine neoplasia, type 3 (formerly)" RELATED [GARD:0010225]
synonym: "multiple endocrine neoplasia, type IIB" RELATED [MONDO:Lexical, OMIM:162300]
synonym: "multiple endocrine neoplasia, type III" EXACT [NCIT:C3227, OMIM:162300]
synonym: "multiple endocrine neoplasia, type III, formerly" RELATED [OMIM:162300]
synonym: "Neuromata, mucosal, with endocrine tumors" RELATED [OMIM:162300]
synonym: "Neuromata, mucosal, with endocrine tumours" RELATED OMO:0003005 []
synonym: "Wagenmann-Froboese syndrome" EXACT [DOID:10016, OMIM:162300, Orphanet:247709]
xref: DOID:10016 {source="MONDO:equivalentTo"}
xref: GARD:10225 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="Orphanet:247709/attributed", source="Orphanet:247709/ntbt", source="Orphanet:247709"}
xref: ICD10CM:E31.23 {source="DOID:10016"}
xref: ICD9:237.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:258.03 {source="DOID:10016", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10056420 {source="Orphanet:247709/e", source="Orphanet:247709"}
xref: MEDGEN:9959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018814 {source="DOID:10016", source="Orphanet:247709/e", source="MONDO:equivalentTo", source="Orphanet:247709"}
xref: NANDO:2201053 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3227 {source="DOID:10016", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: OMIM:162300 {source="DOID:10016", source="Orphanet:247709/e", source="MONDO:equivalentTo", source="Orphanet:247709"}
xref: Orphanet:247709 {source="DOID:10016", source="MONDO:equivalentTo", source="OMIM:162300"}
xref: Orphanet:653 {source="OMIM:162300"}
xref: SCTID:61530001 {source="DOID:10016", source="MONDO:equivalentTo"}
xref: UMLS:C0025269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9959"}
is_a: MONDO:0000426 {source="DOID:10016", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0006295 {source="MONDO:Redundant", source="MONDO:indirect"} ! malignant urinary system neoplasm
is_a: MONDO:0017169 {source="MONDO:Redundant", source="NCIT:C3227/inferred", source="OMIM:162300", source="Orphanet:247709/inferred"} ! multiple endocrine neoplasia
is_a: MONDO:0019003 {source="NCIT:C3227", source="Orphanet:247709"} ! multiple endocrine neoplasia type 2
intersection_of: MONDO:0006295 ! malignant urinary system neoplasm
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 ! RET
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162300", source="Orphanet:247709"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 {source="MONDO:mim2gene_medgen"} ! RET
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b" xsd:anyURI {source="GARD:0010225"}

[Term]
id: MONDO:0008083
name: ceroid lipofuscinosis, neuronal, 4 (Kufs type)
def: "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C128116]
subset: gard_rare {source="GARD:1222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228343"}
subset: ordo_etiological_subtype {source="Orphanet:228343"}
subset: orphanet_rare {source="Orphanet:228343"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult neuronal ceroid lipofuscinosis 4B" RELATED [GARD:0001222]
synonym: "autosomal dominant Kufs disease" EXACT [NCIT:C128116]
synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B" EXACT [DOID:0110720]
synonym: "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" EXACT [OMIM:162350]
synonym: "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant" EXACT [OMIM:162350, OMIM:genemap2]
synonym: "ceroid lipofuscinosis, neuronal, 4B, autosomal dominant" RELATED [MONDO:Lexical, OMIM:162350]
synonym: "ceroid lipofuscinosis, neuronal, parry type" RELATED [OMIM:162350]
synonym: "CLN4" EXACT ABBREVIATION [OMIM:162350]
synonym: "CLN4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162350]
synonym: "CLN4B disease" EXACT [DOID:0110720]
synonym: "Kuf's disease type B" RELATED [GARD:0001222]
synonym: "Kuf's disease, autosomal dominant" RELATED [GARD:0001222]
synonym: "Kufs disease, autosomal dominant" RELATED [OMIM:162350]
synonym: "neuronal ceroid lipofuscinosis 4 parry type" EXACT [DOID:0110720]
synonym: "neuronal ceroid lipofuscinosis 4B" EXACT [DOID:0110720]
synonym: "neuronal ceroid lipofuscinosis type 4B" EXACT [DOID:0110720, MONDORULE:4]
synonym: "neuronal ceroid lipofuscinosis, parry type" EXACT [NCIT:C128116]
xref: DOID:0110720 {source="MONDO:equivalentTo"}
xref: GARD:1222 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110720", source="Orphanet:228343/attributed", source="Orphanet:228343/ntbt", source="Orphanet:228343"}
xref: MEDGEN:320287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128116 {source="MONDO:equivalentTo"}
xref: OMIM:162350 {source="DOID:0110720", source="Orphanet:228343/e", source="MONDO:equivalentTo", source="Orphanet:228343"}
xref: Orphanet:228343 {source="DOID:0110720", source="MONDO:equivalentTo", source="OMIM:162350"}
xref: Orphanet:79262 {source="OMIM:162350"}
xref: UMLS:C1834207 {source="MEDGEN:320287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016295 {source="DOID:0110720", source="MONDO:Redundant", source="NCIT:C128116", source="OMIM:162350", source="Orphanet:228343/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019260 {source="Orphanet:228343"} ! adult neuronal ceroid lipofuscinosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008084
name: neuropathy, congenital, with arthrogryposis multiplex
synonym: "congenital non-progressive peripheral neuropathy with arthrogryposis multiplex" RELATED [GARD:0010086]
synonym: "neuropathy, congenital, with arthrogryposis multiplex" EXACT [OMIM:162370]
xref: MEDGEN:320286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535714 {source="MONDO:equivalentTo"}
xref: OMIM:162370 {source="MONDO:equivalentTo"}
xref: UMLS:C1834206 {source="MEDGEN:320286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10086/neuropathy-congenital-with-arthrogryposis-multiplex" xsd:anyURI {source="GARD:0010086"}

[Term]
id: MONDO:0008085
name: obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance
synonym: "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" EXACT [OMIM:162380]
xref: MESH:C563517 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:162380 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5055" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008086
name: neuropathy, hereditary sensory and autonomic, type 1A
def: "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." [https://www.ncbi.nlm.nih.gov/books/NBK1390]
comment: Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010).
subset: gard_rare {source="GARD:15095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory and autonomic neuropathy type 1A" RELATED [DOID:0070152]
synonym: "hereditary sensory and autonomic neuropathy type IA" EXACT [DOID:0070152]
synonym: "HSAN 1A" RELATED [OMIM:162400]
synonym: "HSAN1A" EXACT ABBREVIATION [DOID:0070152, MONDO:Lexical, OMIM:162400]
synonym: "HSN 1A" RELATED [OMIM:162400]
synonym: "neuropathy, hereditary sensory and autonomic, type IA" RELATED [MONDO:Lexical, OMIM:162400]
synonym: "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A" RELATED [OMIM:162400]
synonym: "neuropathy, hereditary sensory, type 1A" RELATED [OMIM:162400]
synonym: "SPTLC1 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070152 {source="MONDO:equivalentTo"}
xref: GARD:15095 {source="MONDO:GARD"}
xref: MEDGEN:1716450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:162400 {source="DOID:0070152", source="MONDO:equivalentTo"}
xref: Orphanet:36386 {source="OMIM:162400"}
xref: UMLS:C5235211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716450"}
is_a: MONDO:0018213 {source="DOID:0070152", source="MONDO:Redundant", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1
intersection_of: MONDO:0018213 ! hereditary sensory and autonomic neuropathy type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11277 ! SPTLC1
relationship: disease_has_basis_in_disruption_of GO:0004758 {source="PMID:21502308"} ! serine C-palmitoyltransferase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11277 {source="MONDO:mim2gene_medgen"} ! SPTLC1

[Term]
id: MONDO:0008087
name: hereditary neuropathy with liability to pressure palsies
def: "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." [Orphanet:640]
subset: gard_rare {source="GARD:5221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:640"}
subset: ordo_malformation_syndrome {source="Orphanet:640"}
subset: orphanet_rare {source="Orphanet:640"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "current pressure-sensitive neuropathy" EXACT [DOID:0060843, Orphanet:640]
synonym: "familial recurrent polyneuropathy" EXACT [DOID:0060843]
synonym: "hereditary liability to pressure palsies" EXACT [DECIPHER:31]
synonym: "hereditary neuropathy with liability to pressure palsies" EXACT CLINGEN_LABEL []
synonym: "hereditary neuropathy with liability to pressure palsy" RELATED [GARD:0005221]
synonym: "heterozygous microdeletion 17p11.2p12" EXACT [DOID:0060843, Orphanet:640]
synonym: "HNPP" EXACT ABBREVIATION [DECIPHER:31, DOID:0060843, MONDO:Lexical, OMIM:162500, Orphanet:640]
synonym: "neuropathy, hereditary, with liability to pressure palsies" RELATED [MONDO:Lexical, OMIM:162500]
synonym: "neuropathy, recurrent, with pressure palsies" EXACT [OMIM:162500, OMIM:genemap2]
synonym: "polyneuropathy, familial recurrent" RELATED [OMIM:162500]
synonym: "potato-grubbing palsy" EXACT [DOID:0060843, Orphanet:640]
synonym: "Tomaculous neuropathy" EXACT [OMIM:162500, Orphanet:640]
synonym: "tomaculous neuropathy" EXACT [DOID:0060843]
synonym: "tulip-bulb digger's palsy" EXACT [DOID:0060843, Orphanet:640]
xref: DECIPHER:31 {source="MONDO:equivalentTo"}
xref: DOID:0060843 {source="MONDO:equivalentTo"}
xref: GARD:5221 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:640/attributed", source="Orphanet:640/ntbt", source="DOID:0060843", source="Orphanet:640"}
xref: MedDRA:10069382 {source="Orphanet:640/e", source="Orphanet:640"}
xref: MEDGEN:98291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536965 {source="MONDO:equivalentTo"}
xref: OMIM:162500 {source="Orphanet:640/e", source="MONDO:equivalentTo", source="DOID:0060843", source="Orphanet:640"}
xref: Orphanet:640 {source="MONDO:equivalentTo", source="DOID:0060843", source="OMIM:162500"}
xref: SCTID:230558006 {source="MONDO:equivalentTo"}
xref: UMLS:C0393814 {source="MEDGEN:98291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0020127 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary peripheral neuropathy
is_a: MONDO:0022754 {source="Orphanet:640"} ! chromosome 17p deletion
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9118 {source="MONDO:mim2gene_medgen"} ! PMP22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008088
name: neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
synonym: "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine" EXACT [OMIM:162600]
xref: MEDGEN:371758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563516 {source="MONDO:equivalentTo"}
xref: OMIM:162600 {source="MONDO:equivalentTo"}
xref: UMLS:C1834180 {source="MEDGEN:371758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008089
name: neutropenia, chronic familial
synonym: "chronic familial neutropenia" RELATED [GARD:0003983]
synonym: "leukopenia benign familial" RELATED [GARD:0003983]
synonym: "leukopenia, benign familial" RELATED [OMIM:162700]
synonym: "neutropenia chronic familial" RELATED [GARD:0003983]
synonym: "neutropenia, chronic familial" EXACT [OMIM:162700]
xref: ICD9:288.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:777137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535815 {source="MONDO:equivalentTo"}
xref: OMIM:162700 {source="MONDO:equivalentTo"}
xref: SCTID:234576008 {source="MONDO:equivalentTo"}
xref: UMLS:C3665676 {source="MEDGEN:777137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial" xsd:anyURI {source="GARD:0003983"}

[Term]
id: MONDO:0008090
name: cyclic hematopoiesis
def: "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." [NCIT:P378]
subset: gard_rare {source="GARD:6229", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2686"}
subset: orphanet_rare {source="Orphanet:2686"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CH" EXACT ABBREVIATION [NCIT:C3820]
synonym: "CN" EXACT ABBREVIATION [NCIT:C3820]
synonym: "cyclic agranulocytosis" EXACT [DOID:5339]
synonym: "cyclic hematopoiesis" EXACT [DOID:5339, NCIT:C3820, OMIM:162800]
synonym: "cyclic neutropenia" RELATED [OMIM:162800]
synonym: "cyclical neutropenia" EXACT [DOID:5339]
synonym: "dysplasia, myelocytic periodic" EXACT [NCIT:C3820]
synonym: "neutropenia cyclic" RELATED [GARD:0006229]
synonym: "neutropenia, cyclic" EXACT [OMIM:162800, OMIM:genemap2]
synonym: "neutropenia, periodic" EXACT [DOID:5339]
synonym: "periodic neutropenia" EXACT [NCIT:C3820]
xref: DOID:5339 {source="MONDO:equivalentTo"}
xref: GARD:6229 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:2686/inclusion", source="Orphanet:2686/ntbt", source="Orphanet:2686"}
xref: ICD10CM:D70.4 {source="DOID:5339"}
xref: ICD9:288.02 {source="DOID:5339", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10053176 {source="Orphanet:2686", source="Orphanet:2686/e"}
xref: MEDGEN:65121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536227 {source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo", source="Orphanet:2686/e"}
xref: NANDO:1200354 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200746 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3820 {source="DOID:5339", source="MONDO:equivalentTo"}
xref: OMIM:162800 {source="Orphanet:2686", source="DOID:5339", source="MONDO:equivalentTo", source="Orphanet:2686/e"}
xref: Orphanet:2686 {source="OMIM:162800", source="MONDO:equivalentTo"}
xref: SCTID:191347008 {source="DOID:5339", source="MONDO:equivalentTo"}
xref: SCTID:234575007 {source="DOID:5339"}
xref: SCTID:69295006 {source="DOID:5339"}
xref: UMLS:C0221023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65121"}
is_a: MONDO:0001475 {source="DOID:5339", source="MESH:C536227"} ! neutropenia
is_a: MONDO:0015134 {source="Orphanet:2686"} ! constitutional neutropenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3309 {source="MONDO:mim2gene_medgen"} ! ELANE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008091
name: obsolete abnormal neutrophil chemotactic response
synonym: "neutrophil chemotactic response" RELATED [OMIM:162820]
synonym: "neutrophil migration" RELATED [MONDO:Lexical, OMIM:162820]
synonym: "NM" BROAD ABBREVIATION [MONDO:Lexical, OMIM:162820]
xref: OMIM:162820 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3801" xsd:anyURI
is_obsolete: true
consider: MONDO:0007883
consider: MONDO:0009646
consider: MONDO:0018037

[Term]
id: MONDO:0008092
name: hereditary neutrophilia
def: "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34." [DOID:0090120]
subset: gard_rare {source="GARD:17287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279943"}
subset: orphanet_rare {source="Orphanet:279943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutrophilia, hereditary" RELATED [OMIM:162830]
xref: DOID:0090120 {source="MONDO:equivalentTo"}
xref: GARD:17287 {source="MONDO:GARD"}
xref: ICD10CM:D72.8 {source="DOID:0090120", source="Orphanet:279943", source="Orphanet:279943/attributed", source="Orphanet:279943/ntbt"}
xref: MEDGEN:154252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563010 {source="MONDO:equivalentTo"}
xref: OMIM:162830 {source="DOID:0090120", source="MONDO:equivalentTo", source="Orphanet:279943", source="Orphanet:279943/e"}
xref: Orphanet:279943 {source="DOID:0090120", source="MONDO:equivalentTo", source="OMIM:162830"}
xref: SCTID:129639005 {source="MONDO:equivalentTo"}
xref: UMLS:C0543669 {source="MEDGEN:154252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004805 {source="DOID:0090120", source="MESH:C563010"} ! leukocyte disorder
is_a: MONDO:0005046 {source="MONDO:Entailed", source="Orphanet:279943"} ! immune system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015984"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2439 {source="MONDO:mim2gene_medgen"} ! CSF3R

[Term]
id: MONDO:0008093
name: nevus, epidermal
def: "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." [NCIT:C4088]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Epidermal Nevus" EXACT [NCIT:C4088]
synonym: "epidermal nevus, somatic" EXACT [OMIM:162900, OMIM:genemap2]
synonym: "Nevus sebaceous" RELATED [OMIM:162900]
synonym: "nevus sebaceous or woolly hair nevus, somatic" EXACT OMO:0003005 []
synonym: "nevus sebaceous or wooly hair nevus, somatic" EXACT [OMIM:162900, OMIM:genemap2]
synonym: "nevus, epidermal" EXACT [OMIM:162900]
synonym: "nevus, epidermal, somatic" EXACT [OMIM:162900, OMIM:genemap2]
synonym: "Nevus, Keratinocytic, nonepidermolytic" RELATED [OMIM:162900]
synonym: "Nevus, woolly hair" RELATED OMO:0003005 []
synonym: "Nevus, wooly hair" RELATED [OMIM:162900]
synonym: "nonepidermolytic keratinocytic nevus" EXACT [DOID:0111162]
xref: DOID:0111162 {source="MONDO:equivalentTo"}
xref: MEDGEN:83106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580062 {source="MONDO:equivalentTo"}
xref: NCIT:C4088 {source="MONDO:equivalentTo"}
xref: OMIM:162900 {source="DOID:0111162", source="MONDO:equivalentTo"}
xref: Orphanet:79414 {source="OMIM:162900"}
xref: UMLS:C0334082 {source="MEDGEN:83106", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005073 {source="MESH:C580062"} ! melanocytic nevus
is_a: MONDO:0005093 {source="DOID:0111162", source="NCIT:C4088/inferred"} ! skin disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008094
name: familial multiple nevi flammei
def: "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." [NCIT:C3840]
subset: gard_rare {source="GARD:3986", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:624"}
subset: ordo_morphological_anomaly {source="Orphanet:624"}
subset: orphanet_rare {source="Orphanet:624"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "capillary malformations" RELATED [OMIM:163000]
synonym: "capillary malformations, congenital" RELATED [MONDO:Lexical, OMIM:163000]
synonym: "capillary malformations, congenital, 1, somatic, mosaic" EXACT [OMIM:163000, OMIM:genemap2]
synonym: "CMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163000]
synonym: "familial multiple port-wine stains" EXACT [Orphanet:624]
synonym: "nevi flammei, familial multiple" RELATED [OMIM:163000]
synonym: "Nevus flammeus" EXACT [NCIT:C3840]
synonym: "port wine birthmark" EXACT [NCIT:C3840]
synonym: "port wine Nevus" EXACT [NCIT:C3840]
synonym: "port wine stain" EXACT [NCIT:C3840]
synonym: "port wine stain of skin" EXACT [NCIT:C3840]
synonym: "port wine stain of the skin" EXACT [NCIT:C3840]
synonym: "port wine type hemangioma" EXACT [NCIT:C3840]
synonym: "port-wine stain" RELATED [OMIM:163000]
synonym: "port-wine stain familial multiple" RELATED [GARD:0003986]
synonym: "port-wine stain of skin" EXACT [NCIT:C3840]
synonym: "Salmon patch Nevus" EXACT [NCIT:C3840]
xref: DOID:0111529 {source="MONDO:equivalentTo"}
xref: GARD:3986 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:624/inclusion", source="Orphanet:624/ntbt", source="Orphanet:624"}
xref: MedDRA:10067193 {source="Orphanet:624", source="Orphanet:624/e"}
xref: MEDGEN:419699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019339 {source="Orphanet:624", source="Orphanet:624/e"}
xref: NCIT:C3840 {source="MONDO:equivalentTo"}
xref: OMIM:163000 {source="Orphanet:624", source="MONDO:equivalentTo", source="Orphanet:624/e"}
xref: Orphanet:624 {source="MONDO:equivalentTo", source="OMIM:163000"}
xref: SCTID:416377005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419699"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:624"} ! disease
is_a: MONDO:0016231 {source="MONDO:Redundant", source="Orphanet:624"} ! capillary malformation
is_a: MONDO:0019293 {source="Orphanet:624"} ! skin vascular disease
is_a: MONDO:0021658 {source="NCIT:C3840"} ! vascular ectasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948", source="MONDO:0018728"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4390 {source="MONDO:mim2gene_medgen"} ! GNAQ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008095
name: nevus anemicus
def: "A capillary vascular anomaly that is characterized by hypopigmented macules." [NCIT:C3943]
synonym: "anemicus Nevus" EXACT [NCIT:C3943]
synonym: "NEVUS anemicus" RELATED [OMIM:163050]
synonym: "Nevus anemicus" EXACT [MONDO:ambiguous]
synonym: "nevus anemicus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0025105 {source="MONDO:otherHierarchy"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3943 {source="MONDO:equivalentTo"}
xref: OMIM:163050 {source="MONDO:equivalentTo"}
xref: SCTID:40929003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82725"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021658 {source="NCIT:C3943"} ! vascular ectasia
property_value: IAO:0000589 "nevus anemicus (disease)" xsd:string

[Term]
id: MONDO:0008096
name: nevus flammeus of nape of neck
synonym: "erythema nuchae" RELATED [OMIM:163100]
synonym: "nevus flammeus of nape of neck" EXACT [OMIM:163100]
synonym: "Unna Nevus" RELATED [OMIM:163100]
xref: MEDGEN:437278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567524 {source="MONDO:equivalentTo"}
xref: OMIM:163100 {source="MONDO:equivalentTo"}
xref: UMLS:C2697447 {source="MEDGEN:437278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008097
name: linear nevus sebaceous syndrome
def: "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement)." [Orphanet:2612]
subset: gard_rare {source="GARD:10291", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1692"}
subset: ordo_disorder {source="Orphanet:2612"}
subset: orphanet_rare {source="Orphanet:2612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermal nevus syndrome" RELATED [OMIM:163200]
synonym: "Epidermal Nevus syndrome, formerly" RELATED [OMIM:163200]
synonym: "Jadassohn Nevus phakomatosis" RELATED [OMIM:163200]
synonym: "Jadassohn nevus phakomatosis" RELATED [GARD:0010291]
synonym: "JNP" RELATED ABBREVIATION [GARD:0010291]
synonym: "linear sebaceous Nevus" EXACT [NCIT:C4678]
synonym: "linear sebaceous Nevus syndrome" RELATED [OMIM:163200]
synonym: "Nevus sebaceous of Jadassohn" EXACT [NCIT:C4678]
synonym: "Nevus sebaceus of Jadassohn" EXACT [GARD:0010291, OMIM:163200, Orphanet:2612]
synonym: "Nevus Sebaceus Syndrome" EXACT [NORD:1692]
synonym: "Nevus sebaceus syndrome" EXACT [Orphanet:2612]
synonym: "organoid Nevus" EXACT [NCIT:C4678]
synonym: "organoid Nevus phakomatosis" RELATED [OMIM:163200]
synonym: "organoid nevus phakomatosis" RELATED [GARD:0010291]
synonym: "organoid nevus syndrome" EXACT [Orphanet:2612]
synonym: "Schimmelpenning Feuerstein Mims syndrome" RELATED [GARD:0010291]
synonym: "Schimmelpenning syndrome" EXACT [Orphanet:2612]
synonym: "SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome" RELATED [MONDO:Lexical, OMIM:163200]
synonym: "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic" EXACT [OMIM:163200, OMIM:genemap2]
synonym: "sebaceous nevus syndrome linear" RELATED [GARD:0010291]
synonym: "sebaceous Nevus syndrome, linear" RELATED [OMIM:163200]
synonym: "SFM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163200]
synonym: "SFM syndrome" RELATED [GARD:0010291]
synonym: "Sfm syndrome" RELATED [OMIM:163200]
synonym: "Solomon syndrome" EXACT [Orphanet:2612]
xref: DOID:0111530 {source="MONDO:equivalentTo"}
xref: GARD:10291 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:2612", source="Orphanet:2612/attributed", source="Orphanet:2612/ntbt"}
xref: MEDGEN:1646345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4678 {source="MONDO:equivalentTo"}
xref: NORD:1692 {source="MONDO:NORD"}
xref: OMIM:163200 {source="MONDO:equivalentTo", source="Orphanet:2612", source="Orphanet:2612/e", source="GARD:0010291"}
xref: Orphanet:2612 {source="MONDO:equivalentTo", source="OMIM:163200", source="GARD:0010291"}
xref: UMLS:C4552097 {source="MONDO:equivalentTo", source="MEDGEN:1646345", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="MONDO:Redundant", source="Orphanet:2612"} ! melanocytic nevus
is_a: MONDO:0006499 {source="NCIT:C4678"} ! hamartoma
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0020179 {source="Orphanet:2612"} ! palpebral nevus
is_a: MONDO:0100118 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome" xsd:anyURI {source="GARD:0010291"}

[Term]
id: MONDO:0008098
name: mesomelic dwarfism, Nievergelt type
subset: gard_rare {source="GARD:3554", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2633"}
subset: ordo_malformation_syndrome {source="Orphanet:2633"}
subset: orphanet_rare {source="Orphanet:2633"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mesomelic dwarfism Nievergelt type" RELATED [GARD:0003554]
synonym: "mesomelic dysplasia, Nievergelt type" RELATED [OMIM:163400]
synonym: "Nievergelt syndrome" EXACT [OMIM:163400, Orphanet:2633]
synonym: "radioulnar synostosis and a typical rhomboid shape of the tibia and fibula" RELATED [GARD:0003554]
xref: GARD:3554 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:2633", source="Orphanet:2633/attributed", source="Orphanet:2633/ntbt"}
xref: MEDGEN:98478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536120 {source="MONDO:equivalentTo"}
xref: OMIM:163400 {source="MONDO:equivalentTo", source="Orphanet:2633", source="Orphanet:2633/e"}
xref: Orphanet:2633 {source="MONDO:equivalentTo", source="OMIM:163400"}
xref: SCTID:33979003 {source="MONDO:equivalentTo"}
xref: UMLS:C0432231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98478"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:2240023", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0023599 {source="PMID:2240023", source="https://orcid.org/0009-0001-6494-4831"} ! mesomelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008099
name: congenital stationary night blindness autosomal dominant 2
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15096", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness autosomal dominant type 2" EXACT [DOID:0110863, MONDORULE:1]
synonym: "congenital stationary night blindness caused by mutation in PDE6B" EXACT [MONDO:design_pattern]
synonym: "CSNBAD2" EXACT ABBREVIATION [DOID:0110863, MONDO:Lexical, OMIM:163500]
synonym: "night blindness, congenital stationary, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:163500]
synonym: "night blindness, congenital stationary, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:163500]
synonym: "night blindness, congenital stationary, Rambusch type" RELATED [OMIM:163500]
synonym: "PDE6B congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Rambusch type congenital stationary night blindness" EXACT [DOID:0110863]
xref: DOID:0110863 {source="MONDO:equivalentTo"}
xref: GARD:15096 {source="MONDO:GARD"}
xref: MEDGEN:361814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566869 {source="MONDO:equivalentTo"}
xref: OMIM:163500 {source="DOID:0110863", source="MONDO:equivalentTo"}
xref: Orphanet:215 {source="OMIM:163500"}
xref: UMLS:C1876182 {source="MEDGEN:361814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:163500", source="DOID:0110863", source="MONDO:Redundant", source="OMIM:163500"} ! congenital stationary night blindness
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8786 ! PDE6B
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8786 {source="MONDO:mim2gene_medgen"} ! PDE6B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0008100
name: nipples inverted
synonym: "Mammillae Invertitae" RELATED [OMIM:163600]
synonym: "nipples inverted" EXACT [OMIM:163600]
xref: MEDGEN:82844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:163600 {source="MONDO:equivalentTo"}
xref: UMLS:C0269269 {source="MEDGEN:82844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008101
name: familial supernumerary nipples
def: "Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported." [Orphanet:2456]
subset: gard_rare {source="GARD:2259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2456"}
subset: ordo_morphological_anomaly {source="Orphanet:2456"}
subset: orphanet_rare {source="Orphanet:2456"}
subset: rare
synonym: "accessory nipples" RELATED [OMIM:163700]
synonym: "isolated polythelia" EXACT [Orphanet:2456]
synonym: "nipples, supernumerary" RELATED [OMIM:163700]
synonym: "polymastia" RELATED [OMIM:163700]
synonym: "polythelia, familial" RELATED [OMIM:163700]
xref: GARD:2259 {source="MONDO:GARD"}
xref: ICD10CM:Q83.3 {source="Orphanet:2456/ntbt", source="Orphanet:2456"}
xref: MEDGEN:120564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:163700 {source="Orphanet:2456", source="MONDO:equivalentTo", source="Orphanet:2456/e"}
xref: Orphanet:2456 {source="OMIM:163700", source="MONDO:equivalentTo"}
xref: UMLS:C0266011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120564"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015854 ! supernumerary breasts

[Term]
id: MONDO:0008102
name: sick sinus syndrome 2, autosomal dominant
def: "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18284", source="MONDO:GARD"}
subset: rare
synonym: "atrial fibrillation with Bradyarrhythmia" RELATED [OMIM:163800]
synonym: "HCN4 sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sick sinus syndrome 2" RELATED [OMIM:163800]
synonym: "sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation" RELATED [OMIM:163800]
synonym: "sick sinus syndrome 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:163800]
synonym: "sick sinus syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern]
synonym: "sinus bradycardia syndrome, familial, autosomal dominant" RELATED [OMIM:163800]
synonym: "sinus node disease, familial, autosomal dominant" RELATED [OMIM:163800]
synonym: "Sss, autosomal dominant" RELATED [OMIM:163800]
synonym: "SSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163800]
xref: GARD:18284 {source="MONDO:GARD"}
xref: MEDGEN:320273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563513 {source="MONDO:equivalentTo"}
xref: OMIM:163800 {source="MONDO:equivalentTo"}
xref: Orphanet:166282 {source="OMIM:163800"}
xref: UMLS:C1834144 {source="MEDGEN:320273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012061 {source="MESH:C563513", source="MONDO:Redundant", source="OMIM:163800", source="Orphanet:166282/btnt"} ! familial sick sinus syndrome
intersection_of: MONDO:0012061 ! familial sick sinus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 ! HCN4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 {source="MONDO:mim2gene_medgen"} ! HCN4

[Term]
id: MONDO:0008103
name: noduli Cutanei, multiple, with urinary tract abnormalities
synonym: "noduli Cutanei, multiple, with urinary tract abnormalities" EXACT [OMIM:163850]
xref: MEDGEN:371746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563512 {source="MONDO:equivalentTo"}
xref: OMIM:163850 {source="MONDO:equivalentTo"}
xref: UMLS:C1834143 {source="MEDGEN:371746", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563512/inferred"} ! hereditary disease

[Term]
id: MONDO:0008104
name: Noonan syndrome 1
def: "Noonan syndrome caused by mutations in the PTPN11 gene." [NCIT:C75459]
subset: gard_rare {source="GARD:7223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "female pseudo-Turner syndrome" RELATED [OMIM:163950]
synonym: "Male Turner syndrome" RELATED [OMIM:163950]
synonym: "Noonan syndrome" RELATED [OMIM:163950]
synonym: "Noonan syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:163950]
synonym: "Noonan syndrome type 1" EXACT [DOID:0060578, MONDORULE:1, OMIM:163950]
synonym: "NS1" EXACT ABBREVIATION [DOID:0060578, MONDO:Lexical, OMIM:163950]
synonym: "pterygium colli syndrome" RELATED [OMIM:163950]
synonym: "Turner phenotype with normal karyotype" RELATED [OMIM:163950]
xref: DOID:0060578 {source="MONDO:equivalentTo"}
xref: GARD:7223 {source="MONDO:GARD"}
xref: MEDGEN:1638960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75459 {source="MONDO:equivalentTo"}
xref: OMIM:163950 {source="DOID:0060578", source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:163950"}
xref: UMLS:C4551602 {source="MEDGEN:1638960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018997 {source="DC-OMIM:163950", source="DOID:0060578", source="NCIT:C75459", source="OMIM:163950"} ! Noonan syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="MONDO:mim2gene_medgen"} ! PTPN11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2554" xsd:anyURI

[Term]
id: MONDO:0008105
name: nose, anomalous shape of
synonym: "nose, anomalous shape of" EXACT [OMIM:164000]
synonym: "potato Nose" RELATED [OMIM:164000]
xref: MEDGEN:331668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538354 {source="MONDO:equivalentTo"}
xref: OMIM:164000 {source="MONDO:equivalentTo"}
xref: UMLS:C1834118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331668"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008106
name: nystagmus 2, congenital, autosomal dominant
synonym: "NYS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164100]
synonym: "NYSTAGMUS 2, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:164100]
synonym: "Nystagmus congenital, motor 2" RELATED [GARD:0009599]
synonym: "Nystagmus, congenital motor, 2" RELATED [OMIM:164100]
xref: DOID:0111792 {source="MONDO:equivalentTo"}
xref: MEDGEN:331657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537854 {source="MONDO:equivalentTo"}
xref: OMIM:164100 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:164100"}
xref: UMLS:C1834079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331657"}
is_a: MONDO:0005712 {source="DC-OMIM:164100", source="MESH:C537854", source="OMIM:164100", source="https://orcid.org/0000-0002-6601-2165"} ! congenital nystagmus
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0008107
name: nystagmus, hereditary vertical
synonym: "congenital hereditary vertical nystagmus" RELATED [GARD:0009604]
synonym: "hereditary vertical nystagmus" RELATED [GARD:0009604]
synonym: "nystagmus, hereditary vertical" EXACT [OMIM:164150]
xref: MEDGEN:322336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537857 {source="MONDO:equivalentTo"}
xref: OMIM:164150 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:164150"}
xref: UMLS:C1834078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322336"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005712 {source="DC-OMIM:164150", source="https://orcid.org/0000-0002-6601-2165"} ! congenital nystagmus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9604/nystagmus-hereditary-vertical" xsd:anyURI {source="GARD:0009604"}

[Term]
id: MONDO:0008108
name: oculocerebrocutaneous syndrome
def: "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." [Orphanet:1647]
subset: gard_rare {source="GARD:106", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1521"}
subset: ordo_disorder {source="Orphanet:1647"}
subset: ordo_malformation_syndrome {source="Orphanet:1647"}
subset: orphanet_rare {source="Orphanet:1647"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Delleman Oorthuys syndrome" RELATED [GARD:0000106]
synonym: "Delleman syndrome" EXACT [Orphanet:1647]
synonym: "Delleman-Oorthuys syndrome" EXACT [Orphanet:1647]
synonym: "Leichtman-Wood-Rohn syndrome" EXACT [Orphanet:1647]
synonym: "OCC syndrome" RELATED [GARD:0000106]
synonym: "OCCS" EXACT ABBREVIATION [GARD:0000106, OMIM:164180, Orphanet:1647]
synonym: "oculo-cerebro-cutaneous syndrome" RELATED [GARD:0000106]
synonym: "oculocerebrocutaneous syndrome" EXACT [OMIM:164180]
synonym: "orbital cyst with cerebral and focal dermal malformations" EXACT [GARD:0000106, OMIM:164180, Orphanet:1647]
xref: GARD:106 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1647/attributed", source="Orphanet:1647/ntbt", source="Orphanet:1647"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538088 {source="Orphanet:1647/e", source="MONDO:equivalentTo", source="Orphanet:1647"}
xref: NORD:1521 {source="MONDO:NORD"}
xref: OMIM:164180 {source="Orphanet:1647/e", source="MONDO:equivalentTo", source="GARD:0000106", source="Orphanet:1647"}
xref: Orphanet:1647 {source="OMIM:164180", source="MONDO:equivalentTo", source="GARD:0000106"}
xref: SCTID:403554008 {source="MONDO:equivalentTo"}
xref: UMLS:C0796092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163214"}
is_a: MONDO:0003847 {source="GARD:0000106", source="OMIM:164180", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005071 {source="GARD:0000106"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:1647", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome" xsd:anyURI {source="GARD:0000106"}

[Term]
id: MONDO:0008109
name: ocular cicatricial pemphigoid
def: "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." [https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid]
subset: gard_rare {source="GARD:8759", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99922"}
subset: orphanet_rare {source="Orphanet:99922"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cicatricial pemphigoid, ocular" RELATED [GARD:0008759]
synonym: "OCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164185]
synonym: "ocular cicatricial pemphigoid" EXACT [MONDO:Lexical, OMIM:164185]
synonym: "ocular pemphigoid" EXACT [MONDO:0020548]
synonym: "pemphigoid, ocular cicatricial" RELATED [GARD:0008759]
xref: EFO:0008610 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8759 {source="MONDO:GARD"}
xref: ICD10EXP:H13.3* {source="Orphanet:99922", source="Orphanet:99922/e"}
xref: ICD10EXP:L12+ {source="Orphanet:99922", source="Orphanet:99922/e"}
xref: icd11.foundation:953963439 {source="Orphanet:99922", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MedDRA:10067776 {source="Orphanet:99922", source="Orphanet:99922/e"}
xref: MEDGEN:266181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84939 {source="MONDO:equivalentTo"}
xref: OMIM:164185 {source="MONDO:equivalentTo"}
xref: Orphanet:46486 {source="OMIM:164185"}
xref: Orphanet:99922 {source="MONDO:equivalentTo"}
xref: SCTID:314757003 {source="MONDO:equivalentTo"}
xref: SCTID:34250006 {source="MONDO:mondoIsNarrowerThanSource"}
xref: UMLS:C1282359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266181"}
is_a: MONDO:0018746 {source="EFO:0008610", source="NCIT:C84939", source="https://orcid.org/0000-0002-6601-2165"} ! mucous membrane pemphigoid
relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0015937-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid" xsd:anyURI {source="GARD:0008759"}

[Term]
id: MONDO:0008110
name: obsolete ocular dominance
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "ocular dominance" EXACT [OMIM:164190]
xref: OMIM:164190 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008111
name: oculodentodigital dysplasia
def: "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." [Orphanet:2710]
subset: gard_rare {source="GARD:7239", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1519", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2710"}
subset: ordo_malformation_syndrome {source="Orphanet:2710"}
subset: orphanet_rare {source="Orphanet:2710"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Meyer-Schwickerath syndrome" EXACT [Orphanet:2710]
synonym: "Oculo-Dento-Digital Dysplasia" EXACT [NORD:1519]
synonym: "oculo-dento-digital dysplasia" EXACT [GARD:0007239]
synonym: "oculo-dento-digital syndrome" RELATED [GARD:0007239]
synonym: "oculodentodigital dysplasia" EXACT [MONDO:Lexical, OMIM:164200]
synonym: "oculodentodigital syndrome" RELATED [GARD:0007239]
synonym: "oculodentoosseous dysplasia" EXACT [OMIM:164200, Orphanet:2710]
synonym: "odd syndrome" EXACT [DOID:0060291, OMIM:164200]
synonym: "ODDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164200]
synonym: "ODDD syndrome" EXACT [Orphanet:2710]
xref: DOID:0060291 {source="MONDO:equivalentTo"}
xref: GARD:7239 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2710", source="Orphanet:2710/attributed", source="Orphanet:2710/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063691 {source="Orphanet:2710", source="Orphanet:2710/e"}
xref: MEDGEN:167236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563160 {source="MONDO:equivalentTo", source="DOID:0060291"}
xref: NORD:1519 {source="MONDO:NORD"}
xref: OMIM:164200 {source="MONDO:equivalentTo", source="Orphanet:2710", source="DOID:0060291", source="Orphanet:2710/e"}
xref: Orphanet:2710 {source="MONDO:equivalentTo", source="DOID:0060291", source="OMIM:164200"}
xref: SCTID:31291009 {source="DOID:0060291"}
xref: SCTID:38215007 {source="MONDO:equivalentTo", source="DOID:0060291"}
xref: UMLS:C0812437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167236"}
is_a: MONDO:0002254 {source="DOID:0060291", source="MONDO:Redundant", source="MONDO:indirect"} ! syndromic disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0015160 {source="Orphanet:2710"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
is_a: MONDO:0019287 {source="Orphanet:2710"} ! ectodermal dysplasia syndrome
relationship: disease_has_feature HP:0011001 {source="Orphanet:2710"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2710", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia" xsd:anyURI {source="GARD:0007239"}

[Term]
id: MONDO:0008112
name: obsolete Goldenhar syndrome
comment: Obsoleted in Orphanet.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2358" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015397

[Term]
id: MONDO:0008113
name: Schilbach-Rott syndrome
def: "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." [Orphanet:2353]
subset: gard_rare {source="GARD:2930", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2353"}
subset: ordo_malformation_syndrome {source="Orphanet:2353"}
subset: orphanet_rare {source="Orphanet:2353"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharofacioskeletal syndrome" RELATED [GARD:0002930, OMIM:164220]
synonym: "BRSS" EXACT ABBREVIATION [Orphanet:2353]
synonym: "cleft palate, hypotelorism, and hypospadias" RELATED [OMIM:164220]
synonym: "hypotelorism cleft palate hypospadias" RELATED [GARD:0002930]
synonym: "hypotelorism-cleft palate-hypospadias syndrome" EXACT [Orphanet:2353]
synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" RELATED [GARD:0002930, OMIM:164220]
synonym: "Schilbach-Rott syndrome" EXACT [GARD:0002930, OMIM:164220]
xref: GARD:2930 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2353", source="Orphanet:2353/attributed", source="Orphanet:2353/ntbt"}
xref: MEDGEN:371716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563509 {source="MONDO:equivalentTo"}
xref: OMIM:164220 {source="Orphanet:2353", source="MONDO:equivalentTo", source="Orphanet:2353/e"}
xref: Orphanet:2353 {source="GARD:0002930", source="MONDO:equivalentTo", source="OMIM:164220"}
xref: SCTID:721902002 {source="MONDO:equivalentTo"}
xref: UMLS:C1834038 {source="MEDGEN:371716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2353"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2353", source="Orphanet:2353/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2930/hypotelorism-cleft-palate-hypospadias" xsd:anyURI {source="GARD:0002930"}

[Term]
id: MONDO:0008114
name: obsessive-compulsive disorder
def: "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "Anancastic neurosis" EXACT [DOID:10933]
synonym: "obsessive compulsive disorder" EXACT [DOID:10933]
synonym: "obsessive-compulsive disorder" EXACT [MONDO:Lexical, OMIM:164230]
synonym: "obsessive-compulsive disorder, susceptibility to" EXACT [OMIM:164230, OMIM:genemap2]
synonym: "OCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164230]
xref: DOID:10933 {source="MONDO:equivalentTo", source="EFO:0004242"}
xref: EFO:0004242 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F42 {source="DOID:10933", source="MONDO:equivalentTo"}
xref: ICD9:300.3 {source="DOID:10933", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009771 {source="DOID:10933", source="MONDO:equivalentTo", source="EFO:0004242"}
xref: NCIT:C88411 {source="DOID:10933", source="MONDO:equivalentTo"}
xref: OMIM:164230 {source="MONDO:equivalentTo"}
xref: SCTID:191736004 {source="DOID:10933", source="MONDO:equivalentTo", source="EFO:0004242"}
xref: SCTID:191739006 {source="DOID:10933"}
xref: SCTID:192406007 {source="DOID:10933"}
xref: SCTID:192411009 {source="DOID:10933"}
xref: SCTID:71478004 {source="DOID:10933"}
xref: UMLS:C0028768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14445"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005618 {source="DOID:10933", source="MESH:D009771", source="NCIT:C88411"} ! anxiety disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008115
name: Feingold syndrome type 1
def: "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." [Orphanet:391641]
subset: gard_rare {source="GARD:17624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391641"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brunner-Winter syndrome type 1" EXACT [Orphanet:391641]
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" RELATED [OMIM:164280]
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1" EXACT [Orphanet:391641]
synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum" RELATED OMO:0003005 []
synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1" EXACT OMO:0003005 []
synonym: "Feingold syndrome" RELATED [OMIM:164280]
synonym: "Feingold syndrome 1" RELATED [MONDO:Lexical, OMIM:164280]
synonym: "Feingold syndrome caused by mutation in MYCN" EXACT [MONDO:design_pattern]
synonym: "Feingold syndrome type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:164280]
synonym: "FGLDS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164280, Orphanet:391641]
synonym: "FS1" EXACT ABBREVIATION [Orphanet:391641]
synonym: "microcephaly and digital abnormalities with normal intelligence" RELATED [OMIM:164280]
synonym: "microcephaly, intellectual disability, and tracheoesophageal fistula syndrome" RELATED [OMIM:164280]
synonym: "microcephaly, mental retardation, and tracheoesophageal fistula syndrome" RELATED DEPRECATED [OMIM:164280]
synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 1" EXACT [Orphanet:391641]
synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1" EXACT [Orphanet:391641]
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" RELATED [OMIM:164280]
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1" EXACT [Orphanet:391641]
synonym: "Mmt syndrome" RELATED [OMIM:164280]
synonym: "MMT type 1" EXACT [Orphanet:391641]
synonym: "MODED syndrome type 1" EXACT [Orphanet:391641]
synonym: "MYCN Feingold syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "oculo-digito-esophageal-duodenal syndrome type 1" EXACT [Orphanet:391641]
synonym: "oculodigitoesophagoduodenal syndrome" RELATED [OMIM:164280]
synonym: "Oded syndrome" RELATED [OMIM:164280]
synonym: "ODED syndrome type 1" EXACT [Orphanet:391641]
xref: GARD:17624 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:391641/attributed", source="Orphanet:391641/ntbt", source="Orphanet:391641"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1637716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:164280 {source="Orphanet:391641/e", source="MONDO:equivalentTo", source="Orphanet:391641"}
xref: Orphanet:1305 {source="OMIM:164280"}
xref: Orphanet:391641 {source="OMIM:164280", source="MONDO:equivalentTo"}
xref: SCTID:702431004 {source="MONDO:equivalentTo"}
xref: UMLS:C4551774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637716"}
is_a: MONDO:0015267 {source="DC-OMIM:164280", source="MONDO:Redundant", source="OMIM:164280", source="Orphanet:391641"} ! Feingold syndrome
intersection_of: MONDO:0015267 ! Feingold syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7559 ! MYCN
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:164280", source="Orphanet:391641"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7559 {source="MONDO:mim2gene_medgen"} ! MYCN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008116
name: oculopharyngeal muscular dystrophy
def: "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." [Orphanet:270]
subset: gard_rare {source="GARD:7245", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1523"}
subset: ordo_disorder {source="Orphanet:270"}
subset: orphanet_rare {source="Orphanet:270"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "muscular dystrophy, oculopharyngeal" EXACT [DOID:11719, OMIM:164300]
synonym: "oculopharyngeal muscular dystrophy" EXACT [MONDO:Lexical, OMIM:164300]
synonym: "OPMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164300, Orphanet:270]
xref: DOID:11719 {source="MONDO:equivalentTo"}
xref: GARD:7245 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:270/inclusion", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/ntbt"}
xref: MedDRA:10052181 {source="Orphanet:270", source="Orphanet:270/e"}
xref: MEDGEN:75730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D039141 {source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/e"}
xref: NANDO:1200493 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1523 {source="MONDO:NORD"}
xref: OMIMPS:164300 {source="MONDO:equivalentTo"}
xref: Orphanet:270 {source="MONDO:equivalentTo", source="OMIM:164300"}
xref: SCTID:77097004 {source="MONDO:equivalentTo", source="DOID:11719"}
xref: UMLS:C0270952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75730"}
is_a: MONDO:0004746 {source="DOID:11719"} ! myopathy of extraocular muscle
is_a: MONDO:0016106 {source="Orphanet:270"} ! progressive muscular dystrophy
is_a: MONDO:0020121 {source="DOID:11719", source="MESH:D039141", source="MONDO:Redundant", source="NCIT:C84942", source="Orphanet:270/inferred"} ! muscular dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:164300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy" xsd:anyURI {source="GARD:0007245"}

[Term]
id: MONDO:0008117
name: obsolete oculopharyngodistal myopathy
comment: obsoleted as it was ambiguous as to whether it references the generic grouping or type 1
is_obsolete: true
replaced_by: MONDO:0020793

[Term]
id: MONDO:0008118
name: odontomatosis-aortae esophagus stenosis syndrome
def: "Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia." [Orphanet:2724]
subset: gard_rare {source="GARD:238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2724"}
subset: ordo_malformation_syndrome {source="Orphanet:2724"}
subset: orphanet_rare {source="Orphanet:2724"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "boder syndrome" EXACT [Orphanet:2724]
synonym: "odontoma dysphagia syndrome" RELATED [GARD:0000238]
synonym: "odontoma-dysphagia syndrome" RELATED [OMIM:164330]
synonym: "Odontomatosis (multiple odontomas) with dysphagia" RELATED [GARD:0000238]
xref: GARD:238 {source="MONDO:GARD"}
xref: MEDGEN:320249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537740 {source="MONDO:equivalentTo"}
xref: OMIM:164330 {source="MONDO:equivalentTo", source="Orphanet:2724", source="Orphanet:2724/e"}
xref: Orphanet:2724 {source="MONDO:equivalentTo", source="OMIM:164330"}
xref: SCTID:716180009 {source="MONDO:equivalentTo"}
xref: UMLS:C1834013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320249"}
is_a: MONDO:0021147 {source="Orphanet:2724", source="Orphanet:2724/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008119
name: spinocerebellar ataxia type 1
def: "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." [Orphanet:98755]
subset: gard_rare {source="GARD:4071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98755"}
subset: orphanet_rare {source="Orphanet:98755"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATXN1 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1" EXACT [MONDO:design_pattern]
synonym: "cerebelloparenchymal disorder 1" RELATED [OMIM:164400]
synonym: "Menzel type OPCA" RELATED [OMIM:164400]
synonym: "olivopontocerebellar atrophy 1" RELATED [OMIM:164400]
synonym: "olivopontocerebellar atrophy 4" RELATED [OMIM:164400]
synonym: "OPCA 1" RELATED [OMIM:164400]
synonym: "OPCA 4" RELATED [OMIM:164400]
synonym: "OPCA1" RELATED ABBREVIATION [GARD:0004071]
synonym: "OPCA4" RELATED ABBREVIATION [GARD:0004071]
synonym: "Sca1" EXACT [MONDO:Lexical, OMIM:164400, Orphanet:98755]
synonym: "Schut-haymaker type OPCA" RELATED [OMIM:164400]
synonym: "spinocerebellar ataxia 1" RELATED [MONDO:Lexical, OMIM:164400]
synonym: "spinocerebellar ataxia type 1" EXACT [MONDORULE:1, OMIM:164400]
synonym: "spinocerebellar atrophy 1" RELATED [OMIM:164400]
xref: DOID:0050954 {source="MONDO:equivalentTo"}
xref: GARD:4071 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:98755/attributed", source="Orphanet:98755/ntbt", source="Orphanet:98755"}
xref: MEDGEN:155703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200045 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129982 {source="MONDO:equivalentTo"}
xref: OMIM:164400 {source="Orphanet:98755", source="MONDO:equivalentTo", source="DOID:0050954", source="Orphanet:98755/e"}
xref: Orphanet:98755 {source="MONDO:equivalentTo", source="OMIM:164400"}
xref: SCTID:715748006 {source="MONDO:equivalentTo"}
xref: UMLS:C0752120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155703"}
is_a: MONDO:0005559 {source="DOID:0050954/inferred", source="MONDO:Redundant", source="NCIT:C129982", source="NCIT:C129982/inferred", source="Orphanet:98755/inferred"} ! neurodegenerative disease
is_a: MONDO:0015548 {source="Orphanet:98755"} ! Huntington disease-like syndrome
is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98755"} ! autosomal dominant cerebellar ataxia type I
intersection_of: MONDO:0019792 ! autosomal dominant cerebellar ataxia type I
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10548 ! ATXN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10548 {source="MONDO:mim2gene_medgen"} ! ATXN1

[Term]
id: MONDO:0008120
name: obsolete spinocerebellar ataxia type 7
xref: NANDO:1200047 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5763" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016163

[Term]
id: MONDO:0008121
name: onychogryposis, pedal, with keratosis plantaris and coarse hair
synonym: "onychogryposis, pedal, with keratosis plantaris and coarse hair" EXACT [OMIM:164680]
xref: MEDGEN:331637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563506 {source="MONDO:equivalentTo"}
xref: OMIM:164680 {source="MONDO:equivalentTo"}
xref: UMLS:C1833997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331637"}
is_a: MONDO:0003847 {source="MESH:C563506/inferred"} ! hereditary disease

[Term]
id: MONDO:0008122
name: obsolete olivopontocerebellar atrophy 5
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3805" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011781

[Term]
id: MONDO:0008123
name: autosomal dominant omodysplasia
def: "Autosomal dominant form of omodysplasia." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:3643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93328"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OMOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164745]
synonym: "omodysplasia 2" RELATED [MONDO:Lexical, OMIM:164745]
synonym: "omodysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:164745]
xref: DOID:0080845 {source="MONDO:equivalentTo"}
xref: GARD:3643 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:93328", source="Orphanet:93328/attributed", source="Orphanet:93328/ntbt"}
xref: MEDGEN:413823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567664 {source="MONDO:equivalentTo"}
xref: OMIM:164745 {source="Orphanet:93328/e", source="MONDO:equivalentTo", source="Orphanet:93328"}
xref: Orphanet:2733 {source="OMIM:164745"}
xref: Orphanet:93328 {source="OMIM:164745", source="MONDO:equivalentTo"}
xref: SCTID:725165009 {source="MONDO:equivalentTo"}
xref: UMLS:C2750355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413823"}
is_a: MONDO:0017136 {source="DC-OMIM:164745", source="MONDO:Redundant", source="Orphanet:93328"} ! omodysplasia
intersection_of: MONDO:0017136 ! omodysplasia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008124
name: omphalocele, autosomal
subset: gard_rare {source="GARD:18586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 1P31 Duplication syndrome" RELATED [OMIM:164750]
synonym: "omphalocele due to duplication of 1p31.3, isolated cases" EXACT [OMIM:164750, OMIM:genemap2]
synonym: "omphalocele, autosomal" EXACT [OMIM:164750]
synonym: "paraomphalocele" RELATED [GARD:0004218]
synonym: "type - epigastric - defect in the cephalic fold" RELATED [GARD:0004218]
synonym: "type - hypogastric - defect in the caudal fold" RELATED [GARD:0004218]
xref: GARD:18586 {source="MONDO:GARD"}
xref: MEDGEN:478865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:164750 {source="MONDO:equivalentTo"}
xref: Orphanet:660 {source="OMIM:164750"}
xref: UMLS:C3277235 {source="MEDGEN:478865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019015 {source="DC-OMIM:164750"} ! omphalocele
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008125
name: nonsyndromic congenital nail disorder 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "nail disorder, nonsyndromic congenital, 5" RELATED [MONDO:Lexical, OMIM:164800]
synonym: "NDNC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164800]
synonym: "nonsyndromic congenital nail disorder type 5" EXACT [DOID:0080083, MONDORULE:1]
synonym: "onycholysis, hereditary distal" RELATED [OMIM:164800]
synonym: "onycholysis, partial, with scleronychia" RELATED [OMIM:164800]
xref: DOID:0080083 {source="MONDO:equivalentTo"}
xref: MEDGEN:318994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563503 {source="MONDO:equivalentTo"}
xref: OMIM:164800 {source="MONDO:equivalentTo", source="DOID:0080083"}
xref: UMLS:C1833909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318994"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0019284 {source="DC-OMIM:164800", source="OMIM:164800"} ! inherited isolated nail anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0008126
name: obsolete oncogene Yuasa
comment: This is a gene record, not a disease.
synonym: "oncogene Yuasa" EXACT [OMIM:164891]
xref: OMIM:164891 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008127
name: ophthalmomandibulomelic dysplasia
def: "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." [Orphanet:2741]
subset: gard_rare {source="GARD:4365", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2741"}
subset: ordo_malformation_syndrome {source="Orphanet:2741"}
subset: orphanet_rare {source="Orphanet:2741"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OMM syndrome" EXACT [OMIM:164900, Orphanet:2741]
synonym: "Ophthalmo-mandibulo-melic dysplasia" RELATED [GARD:0004365]
synonym: "ophthalmomandibulomelic dysplasia" EXACT [OMIM:164900]
synonym: "Pillay syndrome" EXACT [Orphanet:2741]
xref: GARD:4365 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2741/attributed", source="Orphanet:2741/ntbt", source="Orphanet:2741"}
xref: MEDGEN:331604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563501 {source="MONDO:equivalentTo"}
xref: OMIM:164900 {source="Orphanet:2741", source="MONDO:equivalentTo", source="Orphanet:2741/e"}
xref: Orphanet:2741 {source="OMIM:164900", source="MONDO:equivalentTo"}
xref: SCTID:715484003 {source="MONDO:equivalentTo"}
xref: UMLS:C1833872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331604"}
is_a: MONDO:0003847 {source="GARD:0004365", source="OMIM:164900", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0020215 {source="Orphanet:2741", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic corneal dystrophy

[Term]
id: MONDO:0008128
name: ophthalmoplegia, familial static
synonym: "external ophthalmoplegia, nonprogressive, congenital hereditary" RELATED [OMIM:165000]
synonym: "ophthalmoplegia, familial static" EXACT [OMIM:165000]
xref: MEDGEN:371666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563500 {source="MONDO:equivalentTo"}
xref: OMIM:165000 {source="MONDO:equivalentTo"}
xref: UMLS:C1833839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371666"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008129
name: ophthalmoplegia, familial total, with iris transillumination
synonym: "ophthalmoplegia, familial total, with iris transillumination" EXACT [OMIM:165098]
xref: MEDGEN:371665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563499 {source="MONDO:equivalentTo"}
xref: OMIM:165098 {source="MONDO:equivalentTo"}
xref: UMLS:C1833836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371665"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008130
name: ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
subset: gard_rare {source="GARD:3236", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2743"}
subset: ordo_malformation_syndrome {source="Orphanet:2743"}
subset: orphanet_rare {source="Orphanet:2743"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Levic Stefanovic Nikolic syndrome" RELATED [GARD:0003236]
synonym: "Levic-Stefanovic-Nikolic syndrome" EXACT [Orphanet:2743]
synonym: "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" RELATED [OMIM:165150]
synonym: "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" EXACT [GARD:0003236]
xref: GARD:3236 {source="MONDO:GARD"}
xref: MEDGEN:318972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563498 {source="MONDO:equivalentTo"}
xref: OMIM:165150 {source="GARD:0003236", source="MONDO:equivalentTo", source="Orphanet:2743", source="Orphanet:2743/e"}
xref: Orphanet:2743 {source="GARD:0003236", source="OMIM:165150", source="MONDO:equivalentTo"}
xref: UMLS:C1833835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318972"}
is_a: MONDO:0015159 {source="Orphanet:2743"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2743", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome" xsd:anyURI {source="GARD:0003236"}

[Term]
id: MONDO:0008131
name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
subset: gard_rare {source="GARD:402", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" EXACT [OMIM:165199]
xref: GARD:402 {source="MONDO:GARD"}
xref: MEDGEN:331597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563497 {source="MONDO:equivalentTo"}
xref: OMIM:165199 {source="MONDO:equivalentTo"}
xref: Orphanet:1215 {source="OMIM:165199"}
xref: UMLS:C1833831 {source="MEDGEN:331597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014720 {source="Orphanet:1215/btnt"} ! autosomal dominant optic atrophy plus syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:165199"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0008132
name: optic atrophy with demyelinating disease of CNS
subset: gard_rare {source="GARD:15098", source="MONDO:GARD"}
subset: rare
synonym: "optic atrophy with demyelinating disease of CNS" EXACT [OMIM:165200]
xref: DOID:0111756 {source="MONDO:equivalentTo"}
xref: GARD:15098 {source="MONDO:GARD"}
xref: MEDGEN:322290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563496 {source="MONDO:equivalentTo"}
xref: OMIM:165200 {source="MONDO:equivalentTo"}
xref: Orphanet:99718 {source="OMIM:165200"}
xref: UMLS:C1833830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322290"}
is_a: MONDO:0020478 {source="Orphanet:99718/btnt"} ! Leber plus disease

[Term]
id: MONDO:0008133
name: optic atrophy 3
subset: gard_rare {source="GARD:10203", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67036"}
subset: orphanet_rare {source="Orphanet:67036"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant optic atrophy type 3" EXACT [Orphanet:67036]
synonym: "OPA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165300]
synonym: "OPA3, autosomal dominant" EXACT [Orphanet:67036]
synonym: "optic atrophy 3" EXACT [GARD:0010203]
synonym: "optic atrophy 3 with cataract" RELATED [GARD:0010203]
synonym: "optic atrophy 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:165300]
synonym: "optic atrophy and cataract, autosomal dominant" RELATED [OMIM:165300]
synonym: "optic atrophy, cataract, and neurologic disorder" RELATED [GARD:0010203]
xref: DOID:0111433 {source="MONDO:equivalentTo"}
xref: GARD:10203 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:67036/attributed", source="Orphanet:67036/ntbt", source="Orphanet:67036"}
xref: MEDGEN:371657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537128 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="Orphanet:67036"}
xref: OMIM:165300 {source="Orphanet:67036/e", source="MONDO:equivalentTo", source="Orphanet:67036"}
xref: Orphanet:67036 {source="MONDO:equivalentTo", source="OMIM:165300"}
xref: SCTID:719517009 {source="MONDO:equivalentTo"}
xref: UMLS:C1833809 {source="MEDGEN:371657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:67036"} ! autosomal dominant optic atrophy
is_a: MONDO:0043878 {source="MESH:C537128/inferred", source="MONDO:Redundant", source="OMIM:165300"} ! hereditary optic atrophy
intersection_of: MONDO:0020250 ! autosomal dominant optic atrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8142 ! OPA3
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:165300", source="Orphanet:67036"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8142 {source="MONDO:mim2gene_medgen"} ! OPA3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract" xsd:anyURI {source="GARD:0010203"}

[Term]
id: MONDO:0008134
name: autosomal dominant optic atrophy, classic form
def: "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects." [Orphanet:98673]
subset: gard_rare {source="GARD:9890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98673"}
subset: orphanet_rare {source="Orphanet:98673"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant optic atrophy, Kjer type" EXACT [Orphanet:98673]
synonym: "Kjer optic atrophy" EXACT [Orphanet:98673]
synonym: "Kjer-type optic atrophy" RELATED [OMIM:165500]
synonym: "OAK" RELATED ABBREVIATION [GARD:0009890]
synonym: "OPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165500]
synonym: "optic atrophy 1" RELATED [MONDO:Lexical, OMIM:165500]
synonym: "optic atrophy type 1" EXACT [MONDORULE:1, OMIM:165500, Orphanet:98673]
synonym: "optic atrophy, juvenile" RELATED [OMIM:165500]
synonym: "optic atrophy, Kjer type" RELATED [OMIM:165500]
xref: DOID:0111441 {source="MONDO:equivalentTo"}
xref: GARD:9890 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:98673/attributed", source="Orphanet:98673/ntbt", source="Orphanet:98673"}
xref: MEDGEN:137902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:165500 {source="Orphanet:98673/e", source="MONDO:equivalentTo", source="Orphanet:98673"}
xref: Orphanet:98673 {source="MONDO:equivalentTo", source="OMIM:165500"}
xref: SCTID:717336005 {source="MONDO:equivalentTo"}
xref: UMLS:C0338508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137902"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:98673"} ! autosomal dominant optic atrophy
is_a: MONDO:0043878 {source="MONDO:Redundant", source="OMIM:165500"} ! hereditary optic atrophy
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:165500", source="Orphanet:98673"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1

[Term]
id: MONDO:0008135
name: optic atrophy 13 with retinal and foveal abnormalities
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "optic atrophy 13 with retinal and foveal abnormalities" EXACT [https://www.clinicalgenome.org/affiliation/50053/, OMIM:165510]
synonym: "optic atrophy with negative Electroretinograms" EXACT [OMIM:165510]
xref: MEDGEN:1768962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563494 {source="MONDO:equivalentTo"}
xref: OMIM:165510 {source="MONDO:equivalentTo"}
xref: UMLS:C5435585 {source="MONDO:equivalentTo", source="MEDGEN:1768962", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563494/inferred"} ! hereditary disease
is_a: MONDO:0043878 {source="OMIM:165510"} ! hereditary optic atrophy

[Term]
id: MONDO:0008136
name: isolated optic nerve hypoplasia
subset: gard_rare {source="GARD:8419", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1528", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:637061"}
subset: orphanet_rare {source="Orphanet:637061"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial bilateral optic nerve hypoplasia" EXACT [GARD:0008419]
synonym: "isolated optic nerve hypoplasia/aplasia" RELATED [Orphanet:137902]
synonym: "optic nerve aplasia, bilateral" RELATED [OMIM:165550]
synonym: "Optic Nerve Hypoplasia" EXACT [NORD:1528]
synonym: "optic nerve hypoplasia" RELATED [OMIM:165550, OMIM:genemap2]
synonym: "optic nerve hypoplasia, bilateral" EXACT [OMIM:165550]
synonym: "optic nerve hypoplasia, familial bilateral" EXACT [GARD:0008419]
xref: DOID:0111531 {source="MONDO:equivalentTo"}
xref: GARD:8419 {source="MONDO:GARD"}
xref: ICD10CM:H47.0 {source="Orphanet:137902", source="Orphanet:137902/attributed", source="Orphanet:137902/ntbt"}
xref: icd11.foundation:609162974 {source="Orphanet:637061", source="MONDO:equivalentTo"}
xref: MEDGEN:322281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1528 {source="MONDO:NORD"}
xref: OMIM:165550 {source="MONDO:equivalentTo", source="Orphanet:137902", source="Orphanet:137902/e"}
xref: Orphanet:137902 {source="MONDO:equivalentObsolete", source="OMIM:165550"}
xref: Orphanet:637061 {source="MONDO:equivalentTo"}
xref: SCTID:724999003 {source="MONDO:equivalentTo"}
xref: UMLS:C1833797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322281"}
is_a: MONDO:0020249 {source="Orphanet:137902"} ! hereditary optic neuropathy
is_a: MONDO:0800183 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PAX6-related ocular dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008137
name: orofaciodigital syndrome X
def: "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." [Orphanet:2756]
subset: gard_rare {source="GARD:4061", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:2756"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Figuera syndrome" EXACT [Orphanet:2756]
synonym: "OFD syndrome 10" RELATED [GARD:0004061]
synonym: "OFD10" EXACT ABBREVIATION [DOID:0060380, MONDO:Lexical, OMIM:165590, Orphanet:2756]
synonym: "Ofds 10" RELATED [OMIM:165590]
synonym: "oral facial digital syndrome 10" RELATED [GARD:0004061]
synonym: "oral facial digital syndrome type 10" RELATED [GARD:0004061]
synonym: "oral-facial-digital syndrome 10" RELATED [GARD:0004061]
synonym: "oral-facial-digital syndrome type 10" EXACT [Orphanet:2756]
synonym: "oral-Facial-digital syndrome with fibular aplasia" RELATED [OMIM:165590]
synonym: "oral-Facial-digital syndrome, type 10" RELATED [OMIM:165590]
synonym: "orofaciodigital syndrome 10" RELATED [GARD:0004061]
synonym: "orofaciodigital syndrome type 10" EXACT [MONDORULE:2, OMIM:165590]
synonym: "orofaciodigital syndrome type Figuera" RELATED [GARD:0004061]
synonym: "orofaciodigital syndrome type X" EXACT [DOID:0060380, MONDORULE:1]
synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [DOID:0060380, OMIM:165590, Orphanet:2756]
synonym: "orofaciodigital syndrome X" EXACT [MONDO:Lexical, OMIM:165590]
xref: DOID:0060380 {source="MONDO:equivalentTo"}
xref: GARD:4061 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2756", source="Orphanet:2756/attributed", source="Orphanet:2756/ntbt", source="DOID:0060380"}
xref: MEDGEN:322280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563491 {source="MONDO:equivalentTo", source="DOID:0060380"}
xref: OMIM:165590 {source="MONDO:equivalentTo", source="Orphanet:2756", source="DOID:0060380", source="Orphanet:2756/e"}
xref: Orphanet:2756 {source="OMIM:165590", source="MONDO:equivalentTo", source="DOID:0060380"}
xref: SCTID:722075004 {source="MONDO:equivalentTo"}
xref: UMLS:C1833796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322280"}
is_a: MONDO:0015375 {source="DC-OMIM:165590", source="DOID:0060380", source="MESH:C563491", source="Orphanet:2756"} ! orofaciodigital syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2756", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-10" xsd:anyURI {source="GARD:0004061"}

[Term]
id: MONDO:0008138
name: syndromic orbital border hypoplasia
def: "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." [Orphanet:98606]
subset: gard_rare {source="GARD:16858", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98606"}
subset: ordo_malformation_syndrome {source="Orphanet:98606"}
subset: orphanet_rare {source="Orphanet:98606"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "orbital margin, hypoplasia OF" RELATED [OMIM:165600]
synonym: "Urrets-Zavalia syndrome" EXACT [Orphanet:98606]
xref: GARD:16858 {source="MONDO:GARD"}
xref: MEDGEN:318965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563490 {source="MONDO:equivalentTo"}
xref: OMIM:165600 {source="MONDO:equivalentTo", source="Orphanet:98606", source="Orphanet:98606/e"}
xref: Orphanet:98606 {source="MONDO:equivalentTo", source="OMIM:165600"}
xref: SCTID:717337001 {source="MONDO:equivalentTo"}
xref: UMLS:C1833795 {source="MEDGEN:318965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0008139
name: OSLAM syndrome
def: "OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia." [Orphanet:2760]
subset: gard_rare {source="GARD:4129", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2760"}
subset: ordo_malformation_syndrome {source="Orphanet:2760"}
subset: orphanet_rare {source="Orphanet:2760"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OSLAM syndrome" EXACT [OMIM:165660]
synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" RELATED OMO:0003005 []
synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" RELATED [GARD:0004129]
synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" RELATED [OMIM:165660]
synonym: "osteosarcoma, limb anomalies, and macrocytosis" RELATED [OMIM:165660]
synonym: "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome" EXACT [Orphanet:2760]
xref: GARD:4129 {source="MONDO:GARD"}
xref: ICD10CM:C41.9 {source="Orphanet:2760", source="Orphanet:2760/attributed", source="Orphanet:2760/ntbt"}
xref: MEDGEN:331588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537138 {source="Orphanet:2760", source="MONDO:equivalentTo", source="Orphanet:2760/e"}
xref: OMIM:165660 {source="Orphanet:2760", source="MONDO:equivalentTo", source="Orphanet:2760/e"}
xref: Orphanet:2760 {source="MONDO:equivalentTo", source="OMIM:165660"}
xref: SCTID:733064004 {source="MONDO:equivalentTo"}
xref: UMLS:C1833792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331588"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:2760"} ! neoplasm
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019060 {source="Orphanet:2760"} ! bone neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015959"} ! rare

[Term]
id: MONDO:0008140
name: ossified ear cartilages
synonym: "ossified ear cartilages" EXACT [OMIM:165670]
xref: MEDGEN:331587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563488 {source="MONDO:equivalentTo"}
xref: OMIM:165670 {source="MONDO:equivalentTo"}
xref: UMLS:C1833791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331587"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008141
name: ossicular malformations, familial
synonym: "familial middle ear ossicular anomalies" RELATED [GARD:0008184]
synonym: "familial ossicular malformations" RELATED [GARD:0008184]
synonym: "ossicular malformations, familial" EXACT [OMIM:165680]
xref: MEDGEN:371652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537142 {source="MONDO:equivalentTo"}
xref: OMIM:165680 {source="MONDO:equivalentTo"}
xref: UMLS:C1833790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371652"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8184/ossicular-malformations-familial" xsd:anyURI {source="GARD:0008184"}

[Term]
id: MONDO:0008142
name: Thiemann disease, familial form
def: "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." [Orphanet:3314]
subset: gard_rare {source="GARD:4131", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3314"}
subset: orphanet_rare {source="Orphanet:3314"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aseptic necrosis of phalangeal epiphyses" EXACT [Orphanet:3314]
synonym: "osteoarthropathy of fingers familial" RELATED [GARD:0004131]
synonym: "osteoarthropathy of fingers, familial" RELATED [OMIM:165700]
synonym: "osteochondritis of phalangeal epiphyses" EXACT [Orphanet:3314]
synonym: "Osteochondrosis of phalangeal epiphyses" EXACT [Orphanet:3314]
synonym: "THIEMANN disease" RELATED [OMIM:165700]
synonym: "Thiemann epiphyseal disease" RELATED [OMIM:165700]
synonym: "Thiemann's disease" RELATED [GARD:0004131]
xref: GARD:4131 {source="MONDO:GARD"}
xref: ICD10CM:M93.2 {source="Orphanet:3314/attributed", source="Orphanet:3314/ntbt", source="Orphanet:3314"}
xref: ICD9:716.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537144 {source="MONDO:equivalentTo"}
xref: OMIM:165700 {source="Orphanet:3314", source="MONDO:equivalentTo", source="Orphanet:3314/e"}
xref: Orphanet:3314 {source="MONDO:equivalentTo", source="OMIM:165700"}
xref: SCTID:55166000 {source="MONDO:equivalentTo"}
xref: UMLS:C0264081 {source="MEDGEN:82674", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018381 {source="MESH:C537144", source="MONDO:Redundant", source="Orphanet:3314"} ! osteochondrosis
is_a: MONDO:0018383 {source="https://orcid.org/0000-0002-5002-8648"} ! osteonecrosis of genetic origin
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008143
name: osteoarthritis susceptibility 1
def: "Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "FRZB osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Oa" RELATED [OMIM:165720]
synonym: "OS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165720]
synonym: "osteoarthritis caused by mutation in FRZB" EXACT [MONDO:design_pattern]
synonym: "osteoarthritis of hip, female-specific, susceptibility to" RELATED [OMIM:165720]
synonym: "osteoarthritis susceptibility 1" EXACT [MONDO:Lexical, OMIM:165720]
synonym: "osteoarthritis susceptibility type 1" EXACT [MONDORULE:1, OMIM:165720]
synonym: "osteoarthrosis" RELATED [OMIM:165720]
xref: ICD9:715.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:715.98 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:854604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:165720 {source="MONDO:equivalentTo"}
xref: SCTID:396275006 {source="MONDO:relatedTo"}
xref: UMLS:C3887876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854604"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3959 ! FRZB
intersection_of: predisposes_towards MONDO:0005178 ! osteoarthritis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3959 {source="MONDO:mim2gene_medgen"} ! FRZB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1395" xsd:anyURI

[Term]
id: MONDO:0008144
name: obsolete osteochondritis dissecans
is_obsolete: true
replaced_by: MONDO:0017178

[Term]
id: MONDO:0008145
name: Ollier disease
def: "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." [Orphanet:296]
subset: gard_rare {source="GARD:7251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1526"}
subset: ordo_disorder {source="Orphanet:296"}
subset: orphanet_rare {source="Orphanet:296"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dyschondroplasia" EXACT [DOID:4624, OMIM:166000, Orphanet:296]
synonym: "enchondromatosis" RELATED [GARD:0007251]
synonym: "enchondromatosis with haemangiomata" EXACT [DOID:4624]
synonym: "enchondromatosis, multiple" EXACT [DOID:4624]
synonym: "enchondromatosis, multiple, Ollier type" RELATED [OMIM:166000]
synonym: "Kast's syndrome" EXACT [DOID:4624]
synonym: "multiple cartilaginous enchondroses" RELATED [GARD:0007251]
synonym: "multiple enchondromatosis" RELATED [GARD:0007251]
synonym: "Ollier disease" EXACT [OMIM:166000, Orphanet:296]
synonym: "Ollier type enchondromatosis" EXACT [https://orcid.org/0000-0002-3302-4610]
synonym: "Ollier's disease" EXACT [NCIT:C3008]
synonym: "osteochondromatosis" EXACT [DOID:4624]
xref: DOID:4624 {source="MONDO:equivalentTo"}
xref: GARD:7251 {source="MONDO:GARD"}
xref: ICD10CM:Q78.4 {source="Orphanet:296/e", source="Orphanet:296/specific", source="DOID:4624", source="Orphanet:296"}
xref: MedDRA:10014642 {source="Orphanet:296/e", source="Orphanet:296"}
xref: MEDGEN:41775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004687 {source="Orphanet:296/e", source="DOID:4624", source="Orphanet:296"}
xref: NANDO:2200049 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201015 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3008 {source="MONDO:equivalentTo"}
xref: NCIT:C3213 {source="DOID:4624", source="MONDO:directSiblingOf"}
xref: NORD:1526 {source="MONDO:NORD"}
xref: OMIM:166000 {source="Orphanet:296/e", source="DOID:4624", source="MONDO:equivalentTo", source="Orphanet:296"}
xref: Orphanet:296 {source="DOID:4624", source="MONDO:equivalentTo", source="OMIM:166000"}
xref: SCTID:205470006 {source="DOID:4624"}
xref: SCTID:234135008 {source="DOID:4624"}
xref: SCTID:268274005 {source="MONDO:equivalentTo"}
xref: SCTID:46041001 {source="DOID:4624", source="MONDO:directSiblingOf"}
xref: UMLS:C0014084 {source="MEDGEN:41775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:296"} ! neoplasm
is_a: MONDO:0018230 {source="Orphanet:296", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal dysplasia
relationship: disease_has_feature MONDO:0000631 {source="NCIT:C3008"} ! bone benign neoplasm
relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:296", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:296", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:296", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0019755 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015959"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7251/ollier-disease" xsd:anyURI {source="GARD:0007251"}

[Term]
id: MONDO:0008146
name: osteogenesis imperfecta type 1
def: "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." [Orphanet:216796]
comment: Editor note: we follow ordo and place van der hoeve as exact synonym
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adair-Dighton syndrome" EXACT [Orphanet:216796]
synonym: "classic non-deforming OI with blue sclerae" RELATED [GARD:0008694]
synonym: "mild osteogenesis imperfecta" EXACT [Orphanet:216796]
synonym: "non-deforming osteogenesis imperfecta" EXACT [Orphanet:216796]
synonym: "OI type 1" EXACT [Orphanet:216796]
synonym: "OI, type 1" RELATED [OMIM:166200]
synonym: "OI1" EXACT ABBREVIATION [DOID:0110334]
synonym: "osteogenesis imperfecta tarda" RELATED [OMIM:166200]
synonym: "osteogenesis imperfecta type 1" EXACT CLINGEN_LABEL []
synonym: "osteogenesis imperfecta type I" EXACT [DOID:0110334]
synonym: "osteogenesis imperfecta with blue sclerae" RELATED [OMIM:166200]
synonym: "osteogenesis imperfecta, type 1" RELATED [OMIM:166200]
synonym: "osteogenesis imperfecta, type I" RELATED [OMIM:166200]
synonym: "Van der Hoeve syndrome" EXACT [Orphanet:216796]
xref: DOID:0110334 {source="MONDO:equivalentTo"}
xref: GARD:8694 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:216796/attributed", source="Orphanet:216796/ntbt", source="DOID:0110334", source="Orphanet:216796"}
xref: MEDGEN:9799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99003 {source="MONDO:equivalentTo"}
xref: OMIM:166200 {source="Orphanet:216796/e", source="MONDO:equivalentTo", source="DOID:0110334", source="Orphanet:216796"}
xref: Orphanet:216796 {source="MONDO:equivalentTo", source="OMIM:166200", source="DOID:0110334"}
xref: SCTID:385482004 {source="MONDO:equivalentTo"}
xref: UMLS:C0023931 {source="MEDGEN:9799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:166200", source="DOID:0110334", source="NCIT:C99003", source="OMIM:166200", source="Orphanet:216796"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2197 {source="MONDO:mim2gene_medgen"} ! COL1A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008147
name: osteogenesis imperfecta type 2
def: "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." [Orphanet:216804]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216804"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lethal osteogenesis imperfecta" EXACT [Orphanet:216804]
synonym: "OI type 2" EXACT [Orphanet:216804]
synonym: "OI, type 2" RELATED [OMIM:166210]
synonym: "OI2" EXACT ABBREVIATION [DOID:0110341]
synonym: "osteogenesis imperfecta congenita" RELATED [OMIM:166210]
synonym: "osteogenesis imperfecta congenita perinatal lethal form" RELATED [GARD:0010142]
synonym: "osteogenesis imperfecta congenita, perinatal lethal form" RELATED [OMIM:166210]
synonym: "osteogenesis imperfecta type 2" EXACT CLINGEN_LABEL []
synonym: "osteogenesis imperfecta type II" EXACT [DOID:0110341]
synonym: "osteogenesis imperfecta, type 2" RELATED [OMIM:166210]
synonym: "osteogenesis imperfecta, type II" RELATED [OMIM:166210]
synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT [DOID:0110341]
synonym: "Perinatally lethal OI" RELATED [GARD:0010142]
synonym: "Vrolik type of osteogenesis imperfecta" EXACT [DOID:0110341, OMIM:166210]
xref: DOID:0110341 {source="MONDO:equivalentTo"}
xref: GARD:10142 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:216804", source="DOID:0110341", source="Orphanet:216804/attributed", source="Orphanet:216804/ntbt"}
xref: MEDGEN:75673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536042 {source="MONDO:equivalentTo"}
xref: NCIT:C99001 {source="MONDO:equivalentTo"}
xref: OMIM:166210 {source="MONDO:equivalentTo", source="Orphanet:216804", source="DOID:0110341", source="Orphanet:216804/e"}
xref: Orphanet:216804 {source="MONDO:equivalentTo", source="OMIM:166210"}
xref: SCTID:86470003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75673"}
is_a: MONDO:0019019 {source="DC-OMIM:166210", source="DOID:0110341", source="MESH:C536042", source="NCIT:C99001", source="OMIM:166210", source="Orphanet:216804"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008148
name: osteogenesis imperfecta type 4
def: "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." [Orphanet:216820]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216820"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "common variable OI with normal sclerae" RELATED [GARD:0008696]
synonym: "OI type 4" EXACT [Orphanet:216820]
synonym: "OI type IV" RELATED [GARD:0008696]
synonym: "OI, type 4" RELATED [OMIM:166220]
synonym: "OI4" EXACT ABBREVIATION [DOID:0110340, OMIM:166220]
synonym: "osteogenesis imperfecta type IV" EXACT [DOID:0110340]
synonym: "osteogenesis imperfecta with normal sclera" EXACT [DOID:0110340]
synonym: "osteogenesis imperfecta with normal sclerae" RELATED [OMIM:166220]
synonym: "osteogenesis imperfecta, type 4" RELATED [OMIM:166220]
synonym: "osteogenesis imperfecta, type IV" RELATED [OMIM:166220]
xref: DOID:0110340 {source="MONDO:equivalentTo"}
xref: GARD:8696 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:216820", source="Orphanet:216820/attributed", source="Orphanet:216820/ntbt", source="DOID:0110340"}
xref: MEDGEN:78665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536045 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e"}
xref: NCIT:C98576 {source="MONDO:equivalentTo"}
xref: OMIM:166220 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e", source="DOID:0110340"}
xref: Orphanet:216820 {source="MONDO:equivalentTo", source="OMIM:166220"}
xref: SCTID:205497004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78665"}
is_a: MONDO:0019019 {source="DC-OMIM:166220", source="DOID:0110340", source="MESH:C536045", source="NCIT:C98576", source="OMIM:166220", source="Orphanet:216820"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008149
name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
def: "An osteogenesis imperfecta found in a single South African family." [DOID:0110335, PMID:7241530]
subset: gard_rare {source="GARD:15100", source="MONDO:GARD"}
subset: rare
synonym: "osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures" RELATED [OMIM:166230]
xref: DOID:0110335 {source="MONDO:equivalentTo"}
xref: GARD:15100 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110335"}
xref: MEDGEN:331579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563487 {source="MONDO:equivalentTo"}
xref: OMIM:166230 {source="DOID:0110335", source="MONDO:equivalentTo"}
xref: Orphanet:216796 {source="OMIM:166230"}
xref: UMLS:C1833748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331579"}
is_a: MONDO:0008146 {source="Orphanet:216796/btnt"} ! osteogenesis imperfecta type 1

[Term]
id: MONDO:0008150
name: osteoglophonic dwarfism
def: "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." [Orphanet:2645]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2645"}
subset: ordo_malformation_syndrome {source="Orphanet:2645"}
subset: orphanet_rare {source="Orphanet:2645"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fairbank-Keats syndrome" RELATED [GARD:0004142]
synonym: "OGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:166250]
synonym: "osteoglophonic dwarfism" EXACT CLINGEN_LABEL [OMIM:166250]
synonym: "OSTEOGLOPHONIC dysplasia" RELATED [MONDO:Lexical, OMIM:166250]
synonym: "Osteoglosphonic dysplasia" RELATED [Orphanet:2645]
xref: DOID:0111532 {source="MONDO:equivalentTo"}
xref: GARD:4142 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2645", source="Orphanet:2645/attributed", source="Orphanet:2645/ntbt"}
xref: MEDGEN:96592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536050 {source="MONDO:equivalentTo", source="Orphanet:2645", source="Orphanet:2645/e"}
xref: OMIM:166250 {source="MONDO:equivalentTo", source="Orphanet:2645", source="Orphanet:2645/e"}
xref: Orphanet:2645 {source="OMIM:166250", source="MONDO:equivalentTo"}
xref: SCTID:254144002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96592"}
is_a: MONDO:0002081 {source="GARD:0004142"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="GARD:0004142"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2645", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008151
name: gnathodiaphyseal dysplasia
def: "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission." [Orphanet:53697]
subset: gard_rare {source="GARD:8698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53697"}
subset: ordo_malformation_syndrome {source="Orphanet:53697"}
subset: orphanet_rare {source="Orphanet:53697"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:166260, Orphanet:53697]
synonym: "GNATHODIAPHYSEAL dysplasia" RELATED [OMIM:166260]
synonym: "gnathodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:166260]
synonym: "Gnathodiaphyseal sclerosis" RELATED [OMIM:166260]
synonym: "Levin syndrome 2" RELATED [GARD:0008698]
synonym: "osteogenesis imperfecta Levin type" RELATED [GARD:0008698]
synonym: "osteogenesis imperfecta with unusual skeletal lesions" RELATED [OMIM:166260]
xref: DOID:0111533 {source="MONDO:equivalentTo"}
xref: GARD:8698 {source="MONDO:GARD"}
xref: MEDGEN:331575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536039 {source="MONDO:equivalentTo"}
xref: OMIM:166260 {source="Orphanet:53697", source="MONDO:equivalentTo", source="Orphanet:53697/e"}
xref: Orphanet:53697 {source="OMIM:166260", source="MONDO:equivalentTo"}
xref: SCTID:715568002 {source="MONDO:equivalentTo"}
xref: UMLS:C1833736 {source="MEDGEN:331575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="Orphanet:53697"} ! skeletal dysplasia
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: disease_has_feature HP:0004349 {source="Orphanet:53697"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:53697", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:53697", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 {source="MONDO:mim2gene_medgen"} ! ANO5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008152
name: multicentric carpo-tarsal osteolysis with or without nephropathy
def: "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." [Orphanet:2774]
subset: gard_rare {source="GARD:3818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2774"}
subset: ordo_malformation_syndrome {source="Orphanet:2774"}
subset: orphanet_rare {source="Orphanet:2774"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnevale canun Mendoza syndrome" RELATED [GARD:0003818]
synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [GARD:0003818, Orphanet:2774]
synonym: "MCTO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:166300]
synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT [GARD:0003818, GARD:0013042]
synonym: "multicentric carpotarsal osteolysis syndrome" RELATED [MONDO:Lexical, OMIM:166300]
synonym: "multicentric osteolysis nephropathy" RELATED [GARD:0003818]
synonym: "multicentric osteolysis, autosomal dominant" RELATED [OMIM:166300]
synonym: "osteolysis, hereditary, of carpal bones with or without nephropathy" RELATED [OMIM:166300]
xref: DOID:0111534 {source="MONDO:equivalentTo"}
xref: GARD:3818 {source="MONDO:GARD"}
xref: MEDGEN:436237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567171 {source="MONDO:equivalentTo"}
xref: OMIM:166300 {source="Orphanet:2774", source="MONDO:equivalentTo", source="Orphanet:2774/e", source="GARD:0003818", source="GARD:0013042"}
xref: Orphanet:2774 {source="MONDO:equivalentTo", source="OMIM:166300", source="GARD:0003818", source="GARD:0013042"}
xref: SCTID:766992008 {source="MONDO:equivalentTo"}
xref: UMLS:C2674705 {source="MEDGEN:436237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019707 {source="Orphanet:2774", source="PMID:31633310"} ! primary osteolysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6408 {source="MONDO:mim2gene_medgen"} ! MAFB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy" xsd:anyURI {source="GARD:0003818"}

[Term]
id: MONDO:0008153
name: progressive osseous heteroplasia
def: "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." [Orphanet:2762]
subset: gard_rare {source="GARD:109", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1618", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2762"}
subset: ordo_malformation_syndrome {source="Orphanet:2762"}
subset: orphanet_rare {source="Orphanet:2762"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectopic ossification familial type" RELATED [GARD:0000109]
synonym: "ectopic ossification, familial" RELATED [OMIM:166350]
synonym: "familial ectopic ossification" EXACT [Orphanet:2762]
synonym: "osseous heteroplasia, progressive" RELATED [MONDO:Lexical, OMIM:166350]
synonym: "osteoma cutis" RELATED [OMIM:166350]
synonym: "poh" EXACT [MONDO:Lexical, OMIM:166350, Orphanet:2762]
xref: DOID:0111535 {source="MONDO:equivalentTo"}
xref: GARD:109 {source="MONDO:GARD"}
xref: ICD10CM:M61.5 {source="Orphanet:2762", source="Orphanet:2762/attributed", source="Orphanet:2762/ntbt"}
xref: icd11.foundation:1107209347 {source="Orphanet:2762", source="MONDO:equivalentTo"}
xref: MedDRA:10048902 {source="Orphanet:2762", source="Orphanet:2762/e"}
xref: MEDGEN:137714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562735 {source="MONDO:equivalentTo"}
xref: NORD:1618 {source="MONDO:NORD"}
xref: OMIM:166350 {source="Orphanet:2762", source="MONDO:equivalentTo", source="Orphanet:2762/e"}
xref: Orphanet:2762 {source="OMIM:166350", source="MONDO:equivalentTo"}
xref: SCTID:719271000 {source="MONDO:equivalentTo"}
xref: UMLS:C0334041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137714"}
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0021154 {source="Orphanet:2762"} ! dermis disorder
is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation
relationship: excluded_subClassOf MONDO:0018231 {source="Orphanet:2762", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia" xsd:anyURI {source="GARD:0000109"}

[Term]
id: MONDO:0008154
name: osteomas of mandible
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "osteomas of mandible" EXACT [OMIM:166400]
xref: MEDGEN:318953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563485 {source="MONDO:equivalentTo"}
xref: OMIM:166400 {source="MONDO:equivalentTo"}
xref: UMLS:C1833733 {source="MEDGEN:318953", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005166 {source="MESH:C563485"} ! osteoma
relationship: disease_has_location UBERON:0001684 ! mandible

[Term]
id: MONDO:0008155
name: osteomesopyknosis
def: "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." [Orphanet:2777]
subset: gard_rare {source="GARD:391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2777"}
subset: ordo_malformation_syndrome {source="Orphanet:2777"}
subset: orphanet_rare {source="Orphanet:2777"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "axial osteosclerosis" EXACT [OMIM:166450, Orphanet:2777]
synonym: "osteomesopyknosis" EXACT [OMIM:166450]
xref: GARD:391 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:2777", source="Orphanet:2777/attributed", source="Orphanet:2777/ntbt"}
xref: MEDGEN:98482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537792 {source="MONDO:equivalentTo"}
xref: OMIM:166450 {source="MONDO:equivalentTo", source="Orphanet:2777", source="Orphanet:2777/e"}
xref: Orphanet:2777 {source="OMIM:166450", source="MONDO:equivalentTo"}
xref: SCTID:254125009 {source="MONDO:equivalentTo"}
xref: UMLS:C0432264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98482"}
is_a: MONDO:0017198 {source="Orphanet:2777"} ! osteopetrosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis" xsd:anyURI {source="GARD:0000391"}

[Term]
id: MONDO:0008156
name: autosomal dominant osteopetrosis 2
def: "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." [Orphanet:53]
subset: gard_rare {source="GARD:383", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53"}
subset: ordo_malformation_syndrome {source="Orphanet:53"}
subset: orphanet_rare {source="Orphanet:53"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Albers-Schonberg disease, autosomal dominant" RELATED [OMIM:166600]
synonym: "Albers-Schonberg osteopetrosis" EXACT [DOID:0110938]
synonym: "Albers-Schönberg osteopetrosis" EXACT [Orphanet:53]
synonym: "autosomal dominant Albers-Schonberg disease" EXACT [DOID:0110938]
synonym: "autosomal dominant osteopetrosis type 2" EXACT [DOID:0110938, MONDORULE:1]
synonym: "autosomal dominant osteopetrosis type II" EXACT [DOID:0110938]
synonym: "marble bones, autosomal dominant" RELATED [OMIM:166600]
synonym: "OPTA2" EXACT ABBREVIATION [DOID:0110938, MONDO:Lexical, OMIM:166600]
synonym: "osteopetrosis autosomal dominant type 2" EXACT [DOID:0110938, Orphanet:53]
synonym: "osteopetrosis, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:166600]
synonym: "osteopetrosis, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:166600]
synonym: "osteopetrosis, autosomal dominant, type 2" RELATED [OMIM:166600]
synonym: "osteosclerosis Fragilis generalisata" RELATED [OMIM:166600]
xref: DOID:0110938 {source="MONDO:equivalentTo"}
xref: GARD:383 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:53", source="Orphanet:53/ntbt", source="DOID:0110938", source="Orphanet:53/inclusion"}
xref: MEDGEN:465707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:166600 {source="Orphanet:53", source="MONDO:equivalentTo", source="Orphanet:53/e", source="DOID:0110938"}
xref: Orphanet:53 {source="MONDO:equivalentTo", source="DOID:0110938", source="OMIM:166600"}
xref: SCTID:725050005 {source="MONDO:equivalentTo"}
xref: UMLS:C3179239 {source="MEDGEN:465707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017198 {source="DC-OMIM:166600", source="DOID:0110938", source="OMIM:166600", source="Orphanet:53", source="PMID:31633310"} ! osteopetrosis
relationship: excluded_subClassOf MONDO:0020244 {source="Orphanet:53", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified primitive or secondary maculopathy
relationship: excluded_subClassOf MONDO:0020249 {source="Orphanet:53", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary optic neuropathy
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2025 {source="MONDO:mim2gene_medgen"} ! CLCN7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008157
name: Buschke-Ollendorff syndrome
def: "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." [Orphanet:1306]
subset: gard_rare {source="GARD:1044", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:1306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bos" RELATED [MONDO:Lexical, OMIM:166700]
synonym: "Buschke Ollendorff syndrome" RELATED [GARD:0001044]
synonym: "Buschke-Ollendorff syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:166700]
synonym: "dermatofibrosis lenticularis disseminata with osteopoikilosis" RELATED [OMIM:166700]
synonym: "dermatofibrosis lenticularis disseminata, isolated" RELATED [OMIM:166700]
synonym: "dermatofibrosis, disseminated with osteopoikilosis" RELATED [GARD:0001044]
synonym: "dermatofibrosis, disseminated, with osteopoikilosis" RELATED [OMIM:166700]
synonym: "Dermatoosteopoikilosis" RELATED [OMIM:166700]
synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT [Orphanet:1306]
synonym: "osteopathia condensans disseminata" RELATED [OMIM:166700]
synonym: "osteopoikilosis with melorheostosis" RELATED [OMIM:166700]
synonym: "osteopoikilosis with or without melorheostosis" EXACT [OMIM:166700, OMIM:genemap2]
synonym: "osteopoikilosis, isolated" RELATED [OMIM:166700]
xref: DOID:0111536 {source="MONDO:equivalentTo"}
xref: GARD:1044 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:1306/attributed", source="Orphanet:1306/ntbt", source="Orphanet:1306"}
xref: MEDGEN:120545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537415 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"}
xref: OMIM:166700 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"}
xref: Orphanet:1306 {source="MONDO:equivalentTo", source="OMIM:166700"}
xref: Orphanet:166119 {source="OMIM:166700"}
xref: UMLS:C0265514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120545"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
relationship: excluded_subClassOf MONDO:0017198 {source="Orphanet:1306", source="https://orcid.org/0000-0001-5208-3432"} ! osteopetrosis
relationship: excluded_subClassOf MONDO:0019292 {source="Orphanet:1306", source="Orphanet:1306/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dermis elastic tissue disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28887 {source="MONDO:mim2gene_medgen"} ! LEMD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0008158
name: dacryocystitis-osteopoikilosis syndrome
def: "Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter)." [Orphanet:1562]
subset: gard_rare {source="GARD:351", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1562"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dacryocystitis osteopoikilosis" RELATED [GARD:0000351]
synonym: "Gunal Seber Basaran syndrome" RELATED [GARD:0000351]
synonym: "Gunal-Seber-Basaran syndrome" EXACT [Orphanet:1562]
synonym: "osteopoikilosis and dacryocystitis" RELATED [OMIM:166705]
xref: GARD:351 {source="MONDO:GARD"}
xref: MEDGEN:318939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536061 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"}
xref: OMIM:166705 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"}
xref: Orphanet:1562 {source="OMIM:166705", source="MONDO:equivalentTo"}
xref: SCTID:721082002 {source="MONDO:equivalentTo"}
xref: UMLS:C1833698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318939"}
is_a: MONDO:0006025 {source="Orphanet:1562"} ! autosomal recessive disease
relationship: disease_has_feature HP:0011001 {source="Orphanet:1562"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:1562", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density

[Term]
id: MONDO:0008159
name: postmenopausal osteoporosis
def: "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." [MESH:D015663]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone mineral density quantitative trait locus" RELATED [OMIM:166710]
synonym: "osteoporosis, postmenopausal" RELATED [OMIM:166710]
xref: EFO:0003854 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:10498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015663 {source="EFO:0003854", source="MONDO:equivalentTo"}
xref: SCTID:102447009 {source="EFO:0003854", source="MONDO:equivalentTo"}
xref: UMLS:C0029458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10498"}
is_a: MONDO:0005298 {source="DC-OMIM:166710", source="EFO:0003854", source="MESH:D015663"} ! osteoporosis

[Term]
id: MONDO:0008160
name: osteosclerosis with ichthyosis and fractures
synonym: "cortical thickening of long bones with bowing and ichthyosis" RELATED [OMIM:166740]
synonym: "osteosclerosis with ichthyosis and fractures" EXACT [OMIM:166740]
xref: MEDGEN:331568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563483 {source="MONDO:equivalentTo"}
xref: OMIM:166740 {source="MONDO:equivalentTo"}
xref: UMLS:C1833697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331568"}
is_a: MONDO:0003847 {source="MESH:C563483/inferred"} ! hereditary disease

[Term]
id: MONDO:0008161
name: otodental syndrome
def: "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." [Orphanet:2791]
subset: gard_rare {source="GARD:4168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2791"}
subset: ordo_malformation_syndrome {source="Orphanet:2791"}
subset: orphanet_rare {source="Orphanet:2791"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 11q13 deletion syndrome" RELATED [OMIM:166750]
synonym: "globodontia" EXACT [Orphanet:2791]
synonym: "oculootodental syndrome" RELATED [OMIM:166750]
synonym: "otodental dysplasia" EXACT [Orphanet:2791]
synonym: "otodental dysplasia chromosome deletion syndrome" EXACT [OMIM:166750, OMIM:genemap2]
synonym: "otodental syndrome" EXACT [OMIM:166750]
synonym: "otodental syndrome with coloboma" RELATED [OMIM:166750]
xref: GARD:4168 {source="MONDO:GARD"}
xref: ICD10CM:K00.2 {source="Orphanet:2791/attributed", source="Orphanet:2791/ntbt", source="Orphanet:2791"}
xref: MEDGEN:318937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:166750 {source="Orphanet:2791/e", source="MONDO:equivalentTo", source="Orphanet:2791"}
xref: Orphanet:2791 {source="MONDO:equivalentTo", source="OMIM:166750"}
xref: Orphanet:99806 {source="OMIM:166750"}
xref: SCTID:707310009 {source="MONDO:equivalentTo"}
xref: UMLS:C1833693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318937"}
is_a: MONDO:0016910 {source="Orphanet:2791"} ! partial deletion of the long arm of chromosome 11
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2791", source="Orphanet:2791/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008162
name: otitis media, susceptibility to
subset: predisposition
synonym: "come/Rom" RELATED [OMIM:166760]
synonym: "OMS" RELATED ABBREVIATION [OMIM:166760]
synonym: "otitis Media, chronic/recurrent" RELATED [OMIM:166760]
synonym: "otitis media, susceptibility to" EXACT [OMIM:166760]
xref: MEDGEN:318936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:166760 {source="MONDO:equivalentTo"}
xref: UMLS:C1833692 {source="MEDGEN:318936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005441 ! otitis media

[Term]
id: MONDO:0008163
name: otofaciocervical syndrome
def: "A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." [Orphanet:2792]
subset: gard_rare {source="GARD:4169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2792"}
subset: ordo_malformation_syndrome {source="Orphanet:2792"}
subset: orphanet_rare {source="Orphanet:2792"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "familial oto-facio-cervical dysmorphia" RELATED [GARD:0002273, MESH:C537074]
synonym: "Fara Chlupackova syndrome" EXACT [MESH:C537074]
synonym: "Fara-Chlupackova syndrome" EXACT [Orphanet:2792]
synonym: "OFC syndrome" EXACT [Orphanet:2792]
xref: GARD:4169 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2792", source="Orphanet:2792/attributed", source="Orphanet:2792/ntbt"}
xref: MEDGEN:322257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537074 {source="MONDO:equivalentObsolete"}
xref: MESH:C563481 {source="MONDO:equivalentTo"}
xref: OMIMPS:166780 {source="MONDO:equivalentTo"}
xref: Orphanet:2792 {source="OMIM:166780", source="MONDO:equivalentTo"}
xref: UMLS:C1833691 {source="MONDO:equivalentTo", source="MEDGEN:322257", source="MONDO:MEDGEN"}
is_a: MONDO:0015483 {source="MESH:C537074"} ! mandibulofacial dysostosis
is_a: MONDO:0021147 {source="Orphanet:2792", source="Orphanet:2792/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:166780"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7177" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome" xsd:anyURI {source="GARD:0002273"}

[Term]
id: MONDO:0008164
name: otosclerosis 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "otosclerosis 1" EXACT [MONDO:Lexical, OMIM:166800]
synonym: "OTS" RELATED ABBREVIATION [OMIM:166800]
synonym: "OTSC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:166800]
xref: DOID:0060920 {source="MONDO:equivalentTo"}
xref: MEDGEN:1639517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:166800 {source="MONDO:equivalentTo"}
xref: Orphanet:2794 {source="OMIM:166800"}
xref: UMLS:C4551901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639517"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005349 {source="DC-OMIM:166800", source="OMIM:166800"} ! otosclerosis

[Term]
id: MONDO:0008165
name: southeast Asian ovalocytosis
def: "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." [Orphanet:98868]
subset: gard_rare {source="GARD:16867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98868"}
subset: orphanet_rare {source="Orphanet:98868"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "elliptocytosis 4" RELATED [OMIM:166900]
synonym: "elliptocytosis, stomatocytic hereditary" RELATED [OMIM:166900]
synonym: "he, stomatocytic" RELATED [OMIM:166900]
synonym: "hereditary ovalocytosis" BROAD [Orphanet:98868]
synonym: "Melanesian elliptocytosis" EXACT [Orphanet:98868]
synonym: "Melanesian ovalocytosis" EXACT [Orphanet:98868]
synonym: "ovalocytosis, hereditary hemolytic" RELATED [OMIM:166900]
synonym: "ovalocytosis, Malaysian-Melanesian-Filipino type" RELATED [OMIM:166900]
synonym: "ovalocytosis, SA type" EXACT [OMIM:166900, OMIM:genemap2]
synonym: "ovalocytosis, southeast Asian" RELATED [OMIM:166900]
synonym: "sao" EXACT [Orphanet:98868]
synonym: "stomatocytic elliptocytosis" EXACT [Orphanet:98868]
xref: GARD:16867 {source="MONDO:GARD"}
xref: ICD10CM:D58.1 {source="Orphanet:98868", source="Orphanet:98868/attributed", source="Orphanet:98868/ntbt"}
xref: ICD9:282.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:350649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:166900 {source="MONDO:equivalentTo", source="Orphanet:98868", source="Orphanet:98868/e"}
xref: Orphanet:288 {source="OMIM:166900"}
xref: Orphanet:98868 {source="MONDO:equivalentTo"}
xref: SCTID:191169008 {source="MONDO:equivalentTo"}
xref: UMLS:C1862322 {source="MEDGEN:350649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017319 ! hereditary elliptocytosis
is_a: MONDO:0020102 {source="Orphanet:98868"} ! hereditary stomatocytosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008166
name: ovalocytosis, hereditary hemolytic, with defective erythropoiesis
synonym: "ovalocytosis, hereditary hemolytic, with defective erythropoiesis" EXACT [OMIM:166910]
xref: MEDGEN:322255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563479 {source="MONDO:equivalentTo"}
xref: OMIM:166910 {source="MONDO:equivalentTo"}
xref: UMLS:C1833689 {source="MEDGEN:322255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563479/inferred"} ! hereditary disease

[Term]
id: MONDO:0008167
name: dermoid cyst of ovary
def: "A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral." [NCIT:C3856]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dermoid cyst" RELATED EXCLUDE [DOID:5117]
synonym: "dermoid cyst (& [ovarian])" EXACT [DOID:5117]
synonym: "dermoid cyst of ovary" EXACT [DOID:5117, NCIT:C3856]
synonym: "dermoid cyst of the ovary" EXACT [NCIT:C3856]
synonym: "dermoid cyst, ovarian" RELATED [OMIM:166950]
synonym: "ovarian dermoid cyst" EXACT [DOID:5117, NCIT:C3856]
synonym: "ovary dermoid cyst" EXACT [MONDO:patterns/location]
synonym: "teratoma, ovarian" RELATED [OMIM:166950]
xref: DOID:5117 {source="MONDO:equivalentTo"}
xref: MEDGEN:68637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562731 {source="DOID:5117", source="MONDO:equivalentTo"}
xref: NCIT:C3856 {source="DOID:5117", source="MONDO:equivalentTo"}
xref: OMIM:166950 {source="DOID:5117", source="MONDO:equivalentTo"}
xref: SCTID:119424003 {source="DOID:5117"}
xref: SCTID:154618004 {source="DOID:5117"}
xref: SCTID:189116006 {source="DOID:5117"}
xref: SCTID:269641006 {source="DOID:5117"}
xref: UMLS:C0237020 {source="MEDGEN:68637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002378 {source="DOID:5117", source="MONDO:Redundant", source="NCIT:C3856"} ! dermoid cyst
is_a: MONDO:0003281 {source="MONDO:Redundant", source="NCIT:C3856"} ! ovarian cystic teratoma
intersection_of: MONDO:0002378 ! dermoid cyst
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0008168
name: ovarian fibroma
def: "A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts." [NCIT:P378]
subset: gard_rare {source="GARD:21375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314473"}
subset: orphanet_rare {source="Orphanet:314473"}
subset: rare
synonym: "fibroma of ovary" EXACT [NCIT:C3498]
synonym: "fibroma of the ovary" EXACT [NCIT:C3498]
synonym: "ovarian fibroma" EXACT [MONDO:ambiguous, NCIT:C3498]
synonym: "ovarian fibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "ovarian fibromata" RELATED [OMIM:166970]
xref: GARD:21375 {source="MONDO:GARD"}
xref: HP:0010618 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D27 {source="Orphanet:314473/ntbt", source="Orphanet:314473"}
xref: icd11.foundation:871413134 {source="MONDO:equivalentTo", source="Orphanet:314473"}
xref: MedDRA:10064257 {source="Orphanet:314473/e", source="Orphanet:314473"}
xref: MEDGEN:57706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562391 {source="MONDO:equivalentTo"}
xref: NCIT:C3498 {source="MONDO:equivalentTo"}
xref: OMIM:166970 {source="MONDO:equivalentTo"}
xref: Orphanet:314473 {source="MONDO:equivalentTo"}
xref: SCTID:254865006 {source="MONDO:equivalentTo"}
xref: UMLS:C0149951 {source="MEDGEN:57706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000624 {source="MONDO:Redundant", source="NCIT:C3498/inferred"} ! benign female reproductive system neoplasm
is_a: MONDO:0000646 {source="Orphanet:314473"} ! ovarian benign neoplasm
is_a: MONDO:0005167 {source="MESH:C562391", source="NCIT:C3498"} ! fibroma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare
property_value: IAO:0000589 "ovarian fibroma (disease)" xsd:string

[Term]
id: MONDO:0008169
name: osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
synonym: "osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" RELATED [GARD:0002277]
synonym: "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" EXACT [OMIM:166990]
xref: MEDGEN:322254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563478 {source="MONDO:equivalentTo"}
xref: OMIM:166990 {source="MONDO:equivalentTo"}
xref: UMLS:C1833688 {source="MEDGEN:322254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563478/inferred"} ! hereditary disease

[Term]
id: MONDO:0008170
name: ovarian cancer
def: "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." [NCIT:C7431]
subset: gard_rare {source="GARD:7295", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:213500"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431]
synonym: "cancer of the ovary" EXACT [NCIT:C7431]
synonym: "malignant neoplasm of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431]
synonym: "malignant neoplasm of the ovary" EXACT [NCIT:C7431]
synonym: "malignant ovarian neoplasm" EXACT [NCIT:C7431]
synonym: "malignant ovarian tumor" EXACT [DOID:2394, NCIT:C7431]
synonym: "malignant ovarian tumour" EXACT OMO:0003005 []
synonym: "malignant ovary neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of ovary" EXACT [DOID:2394, NCIT:C7431]
synonym: "malignant tumor of the ovary" EXACT [NCIT:C7431]
synonym: "malignant tumour of ovary" EXACT OMO:0003005 []
synonym: "malignant tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian cancer" EXACT [NCIT:C7431, OMIM:167000]
synonym: "ovarian cancer, epithelial" RELATED [OMIM:167000]
synonym: "ovarian cancer, NOS" RELATED EXCLUDE [NCIT:C7431]
synonym: "ovarian cancer, somatic" EXACT [OMIM:167000, OMIM:genemap2]
synonym: "ovarian malignant tumor" EXACT [Orphanet:213500]
synonym: "ovarian malignant tumour" EXACT OMO:0003005 []
synonym: "ovarian neoplasm" BROAD [DOID:2394, MTH:NOCODE]
synonym: "ovary cancer" EXACT [MONDO:patterns/location]
synonym: "ovary neoplasm" BROAD [DOID:2394]
synonym: "primary ovarian cancer" RELATED [DOID:2394]
synonym: "tumor of the ovary" BROAD [DOID:2394, NCIT:C4984]
synonym: "tumour of the ovary" BROAD OMO:0003005 []
xref: DOID:2394 {source="MONDO:equivalentTo"}
xref: GARD:7295 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="DOID:2394"}
xref: icd11.foundation:685124533 {source="Orphanet:213500", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:183.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2394"}
xref: MEDGEN:216027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010051 {source="MONDO:equivalentTo", source="DOID:2394"}
xref: NCIT:C4984 {source="DOID:2394"}
xref: NCIT:C7431 {source="MONDO:equivalentTo", source="DOID:2394"}
xref: OMIM:167000 {source="MONDO:equivalentTo", source="DOID:2394"}
xref: Orphanet:213500 {source="MONDO:equivalentTo"}
xref: SCTID:123843001 {source="DOID:2394"}
xref: SCTID:154528000 {source="DOID:2394"}
xref: SCTID:363443007 {source="MONDO:equivalentTo", source="DOID:2394"}
xref: SCTID:372117006 {source="DOID:2394"}
xref: SCTID:93934004 {source="DOID:2394"}
xref: UMLS:C1140680 {source="MEDGEN:216027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001416 {source="DOID:2394", source="MONDO:Redundant", source="NCIT:C7431"} ! female reproductive organ cancer
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C7431"} ! ovarian neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000992 ! ovary
relationship: disease_has_location UBERON:0000992 ! ovary
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008171
name: nephrolithiasis
def: "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "calculus of kidney and ureter" EXACT [DOID:585]
synonym: "CAON" RELATED ABBREVIATION [OMIM:167030]
synonym: "kidney stone" EXACT [NCIT:C114667]
synonym: "kidney stones" EXACT [DOID:585]
synonym: "nephrolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030]
synonym: "renal calculi" EXACT [NCIT:C114667]
synonym: "Stone - kidney/ureter" EXACT [DOID:585]
synonym: "urolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030]
xref: DOID:585 {source="MONDO:equivalentTo", source="EFO:0004253"}
xref: EFO:0004253 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N20 {source="DOID:585"}
xref: ICD10CM:N20.2 {source="DOID:585"}
xref: ICD9:592 {source="DOID:585"}
xref: MEDGEN:98227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007669 {source="EFO:0003845"}
xref: MESH:D053040 {source="MONDO:equivalentTo", source="EFO:0004253"}
xref: NCIT:C114667 {source="MONDO:equivalentTo", source="EFO:0004253"}
xref: SCTID:155867005 {source="DOID:585"}
xref: SCTID:197792007 {source="DOID:585"}
xref: SCTID:197796005 {source="DOID:585"}
xref: SCTID:266556005 {source="MONDO:equivalentTo", source="DOID:585"}
xref: SCTID:266622009 {source="DOID:585"}
xref: SCTID:95570007 {source="EFO:0003845"}
xref: UMLS:C0392525 {source="MEDGEN:98227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:585", source="EFO:0004253", source="MESH:D053040", source="NCIT:C114667/inferred"} ! kidney disorder
is_a: MONDO:0024647 {source="https://github.com/monarch-initiative/mondo/issues/11"} ! urolithiasis

[Term]
id: MONDO:0008172
name: hypertrophic osteoarthropathy, primary, autosomal dominant
subset: gard_rare {source="GARD:15101", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypertrophic osteoarthropathy, primary, autosomal dominant" EXACT [MONDO:Lexical, OMIM:167100]
synonym: "pachydermoperiostosis, autosomal dominant" RELATED [OMIM:167100]
synonym: "PDP, autosomal dominant" RELATED [OMIM:167100]
synonym: "Pho, autosomal dominant" RELATED [OMIM:167100]
synonym: "PHOAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:167100]
xref: GARD:15101 {source="MONDO:GARD"}
xref: MEDGEN:382429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:167100 {source="MONDO:equivalentTo"}
xref: Orphanet:2796 {source="OMIM:167100"}
xref: UMLS:C2674695 {source="MEDGEN:382429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0016620 {source="MONDO:0008172/inferred", source="MONDO:Redundant", source="OMIM:167100", source="Orphanet:2796/btnt"} ! primary hypertrophic osteoarthropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0008173
name: pachyonychia congenita 1
def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Jadassohn-Lewandowsky syndrome" RELATED [OMIM:167200]
synonym: "Jadassohn-Lewandowsky syndrome, formerly" RELATED [OMIM:167200]
synonym: "KRT16 pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pachyonychia congenita 1" EXACT [MONDO:Lexical, OMIM:167200]
synonym: "pachyonychia congenita caused by mutation in KRT16" EXACT [MONDO:design_pattern]
synonym: "pachyonychia congenita type 1" EXACT [MONDORULE:1, OMIM:167200]
synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" RELATED [OMIM:167200]
synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type, formerly" RELATED [OMIM:167200]
synonym: "PC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167200]
xref: GARD:15102 {source="MONDO:GARD"}
xref: MEDGEN:353335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:167200 {source="MONDO:equivalentTo"}
xref: Orphanet:2309 {source="OMIM:167200"}
xref: SCTID:39427000 {source="MONDO:equivalentTo"}
xref: UMLS:C1706595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:353335"}
is_a: MONDO:0016471 {source="DC-OMIM:167200", source="MONDO:Redundant", source="OMIM:167200"} ! pachyonychia congenita
intersection_of: MONDO:0016471 ! pachyonychia congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6423 ! KRT16
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6423 {source="MONDO:mim2gene_medgen"} ! KRT16

[Term]
id: MONDO:0008174
name: pachyonychia congenita 2
def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KRT17 pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pachyonychia congenita 2" EXACT [MONDO:Lexical, OMIM:167210]
synonym: "pachyonychia congenita caused by mutation in KRT17" EXACT [MONDO:design_pattern]
synonym: "pachyonychia congenita type 2" EXACT [MONDORULE:1, OMIM:167210]
synonym: "pachyonychia congenita, Jackson-Lawler type" RELATED [OMIM:167210]
synonym: "pachyonychia congenita, Jackson-Lawler type, formerly" RELATED [OMIM:167210]
synonym: "PC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167210]
xref: GARD:15103 {source="MONDO:GARD"}
xref: MEDGEN:314107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:167210 {source="MONDO:equivalentTo"}
xref: Orphanet:2309 {source="OMIM:167210"}
xref: UMLS:C1721007 {source="MEDGEN:314107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016471 {source="DC-OMIM:167210", source="MONDO:Redundant", source="OMIM:167210"} ! pachyonychia congenita
intersection_of: MONDO:0016471 ! pachyonychia congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6427 ! KRT17
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6427 {source="MONDO:mim2gene_medgen"} ! KRT17

[Term]
id: MONDO:0008175
name: pacman dysplasia
def: "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." [Orphanet:1952]
subset: gard_rare {source="GARD:4189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1952"}
subset: ordo_malformation_syndrome {source="Orphanet:1952"}
subset: orphanet_rare {source="Orphanet:1952"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome" EXACT [Orphanet:1952]
synonym: "epiphyseal stippling with osteoclastic hyperplasia" RELATED [OMIM:167220]
synonym: "pacman dysplasia" EXACT [OMIM:167220]
synonym: "Pacman syndrome" RELATED [GARD:0004189]
xref: GARD:4189 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:1952", source="Orphanet:1952/attributed", source="Orphanet:1952/ntbt"}
xref: MEDGEN:331566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538095 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"}
xref: OMIM:167220 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"}
xref: Orphanet:1952 {source="OMIM:167220", source="MONDO:equivalentTo"}
xref: SCTID:722127006 {source="MONDO:equivalentTo"}
xref: UMLS:C1833676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331566"}
is_a: MONDO:0019707 {source="Orphanet:1952"} ! primary osteolysis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia" xsd:anyURI {source="GARD:0004189"}

[Term]
id: MONDO:0008176
name: Paget disease of bone 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "familial Paget disease of bone" RELATED [GARD:0004191]
synonym: "Paget disease of bone 3" EXACT [MONDO:Lexical, OMIM:167250]
synonym: "Paget disease of bone type 3" EXACT [MONDORULE:1, OMIM:167250]
synonym: "Paget disease of bone, familial" RELATED [GARD:0004191]
synonym: "PDB3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167250]
xref: DOID:0081366 {source="MONDO:equivalentTo"}
xref: MEDGEN:895927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:167250 {source="MONDO:equivalentTo"}
xref: Orphanet:280110 {source="OMIM:167250"}
xref: UMLS:C4085252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895927"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005382 {source="DC-OMIM:167250", source="OMIM:167250"} ! bone Paget disease
is_a: MONDO:0800464 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1-related multisystem proteinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0008177
name: extramammary Paget disease
def: "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." [NCIT:C3302]
subset: gard_rare {source="GARD:4192", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2800"}
subset: orphanet_rare {source="Orphanet:2800"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous Paget's disease" RELATED [NCIT:C3302]
synonym: "EMPD" RELATED ABBREVIATION [GARD:0004192]
synonym: "extramammary Paget disease" EXACT [MONDO:0006204, NCIT:C3302]
synonym: "Extramammary Paget's disease" EXACT [NCIT:C3302]
synonym: "Paget disease Extramammary" EXACT [NCIT:C3302]
synonym: "Paget disease, EXTRAMAMMARY" RELATED [OMIM:167300]
synonym: "Paget's disease of skin" EXACT [NCIT:C3302]
synonym: "Paget's disease of the skin" EXACT [NCIT:C3302]
synonym: "Paget's skin disease" EXACT [NCIT:C3302]
xref: EFO:1000249 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4192 {source="MONDO:GARD"}
xref: ICD10CM:C44.5 {source="Orphanet:2800", source="Orphanet:2800/ntbt"}
xref: icd11.foundation:1796624917 {source="MONDO:equivalentTo", source="Orphanet:2800", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:8542/3 {source="NCIT:C3302"}
xref: MedDRA:10033366 {source="Orphanet:2800", source="Orphanet:2800/e"}
xref: MedDRA:10068223 {source="Orphanet:2800", source="Orphanet:2800/e"}
xref: MEDGEN:45280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010145 {source="MONDO:equivalentTo", source="Orphanet:2800", source="Orphanet:2800/e"}
xref: NCIT:C3302 {source="MONDO:equivalentTo", source="EFO:1000249"}
xref: OMIM:167300 {source="MONDO:equivalentTo", source="Orphanet:2800", source="Orphanet:2800/e"}
xref: ONCOTREE:EMPD {source="MONDO:equivalentTo"}
xref: Orphanet:2800 {source="MONDO:equivalentTo", source="OMIM:167300"}
xref: UMLS:C0030186 {source="MEDGEN:45280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C3302"} ! Paget disease
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:2800", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0008178
name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
def: "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia." [NCIT:C122663]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IBMPFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167320]
synonym: "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1" EXACT [OMIM:167320, OMIM:genemap2]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" RELATED [MONDO:Lexical, OMIM:167320]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1" EXACT [MONDORULE:1, OMIM:167320]
synonym: "lower motor neuron degeneration with Paget-like bone disease" RELATED [OMIM:167320]
synonym: "multisystem proteinopathy 1" RELATED [OMIM:167320]
synonym: "muscular dystrophy, limb-girdle, with Paget disease of bone" RELATED [OMIM:167320]
synonym: "pagetoid amyotrophic lateral sclerosis" RELATED [OMIM:167320]
xref: DOID:0111385 {source="MONDO:equivalentTo"}
xref: MEDGEN:1641069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563476 {source="MONDO:equivalentTo"}
xref: NCIT:C122663 {source="MONDO:equivalentTo"}
xref: OMIM:167320 {source="MONDO:equivalentTo"}
xref: Orphanet:52430 {source="OMIM:167320"}
xref: UMLS:C4551951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641069"}
is_a: MONDO:0000507 {source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008179
name: paroxysmal extreme pain disorder
def: "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation." [Orphanet:46348]
subset: gard_rare {source="GARD:12854", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:46348"}
subset: orphanet_rare {source="Orphanet:46348"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial rectal pain" EXACT [Orphanet:46348]
synonym: "familial rectal syndrome" RELATED [GARD:0012854]
synonym: "pain, submandibular, ocular, and rectal, with flushing" RELATED [OMIM:167400]
synonym: "paroxysmal extreme pain disorder" EXACT [OMIM:167400]
synonym: "PEPD" RELATED ABBREVIATION [GARD:0012854]
synonym: "Pexpd" RELATED [OMIM:167400]
synonym: "rectal pain, familial" RELATED [OMIM:167400]
synonym: "submandibular, ocular, and rectal pain with flushing" RELATED [GARD:0012854]
xref: DOID:0111537 {source="MONDO:equivalentTo"}
xref: GARD:12854 {source="MONDO:GARD"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:331565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563475 {source="MONDO:equivalentTo"}
xref: NCIT:C125385 {source="MONDO:equivalentTo"}
xref: OMIM:167400 {source="Orphanet:46348", source="MONDO:equivalentTo", source="Orphanet:46348/e"}
xref: Orphanet:46348 {source="MONDO:equivalentTo", source="OMIM:167400"}
xref: SCTID:699190008 {source="MONDO:equivalentTo"}
xref: UMLS:C1833661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331565"}
is_a: MONDO:0700057 {source="https://orcid.org/0000-0001-5208-3432"} ! neurological pain disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder" xsd:anyURI {source="GARD:0012854"}

[Term]
id: MONDO:0008180
name: congenital velopharyngeal incompetence
def: "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech." [MESH:D014681]
subset: gard_rare {source="GARD:5470", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2291"}
subset: ordo_malformation_syndrome {source="Orphanet:2291"}
subset: orphanet_rare {source="Orphanet:2291"}
subset: rare
synonym: "palatopharyngeal incompetence" RELATED [OMIM:167500]
synonym: "velopharyngeal incompetence" RELATED [OMIM:167500]
synonym: "velopharyngeal insufficiency" RELATED [OMIM:167500]
xref: GARD:5470 {source="MONDO:GARD"}
xref: ICD10CM:J39.2 {source="Orphanet:2291/attributed", source="Orphanet:2291/ntbt", source="Orphanet:2291"}
xref: icd11.foundation:158386351 {source="MONDO:equivalentTo", source="Orphanet:2291"}
xref: MEDGEN:52992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014681 {source="MONDO:equivalentTo"}
xref: OMIM:167500 {source="Orphanet:2291/e", source="MONDO:equivalentTo", source="Orphanet:2291"}
xref: Orphanet:2291 {source="MONDO:equivalentTo", source="OMIM:167500"}
xref: UMLS:C0042454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52992"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0008181
name: palmaris longus muscle, absence of
synonym: "palmaris longus muscle, absence of" EXACT [OMIM:167600]
xref: MEDGEN:357025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:167600 {source="MONDO:equivalentTo"}
xref: UMLS:C1868661 {source="MEDGEN:357025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008182
name: nasopalpebral lipoma-coloboma syndrome
def: "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." [Orphanet:2399]
subset: gard_rare {source="GARD:3927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2399"}
subset: ordo_malformation_syndrome {source="Orphanet:2399"}
subset: orphanet_rare {source="Orphanet:2399"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Nasopalpebral lipoma coloboma syndrome" RELATED [GARD:0003927]
synonym: "NASOPALPEBRAL lipoma-coloboma syndrome" RELATED [OMIM:167730]
synonym: "nasopalpebral lipoma-coloboma syndrome" EXACT [OMIM:167730]
synonym: "NPLCS" RELATED ABBREVIATION [OMIM:167730]
synonym: "palpebral coloboma lipoma syndrome" RELATED [GARD:0003927]
synonym: "palpebral coloboma-lipoma syndrome" RELATED [OMIM:167730]
xref: GARD:3927 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:2399", source="Orphanet:2399/attributed", source="Orphanet:2399/ntbt"}
xref: MEDGEN:358378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538338 {source="MONDO:equivalentTo"}
xref: OMIM:167730 {source="Orphanet:2399", source="MONDO:equivalentTo", source="Orphanet:2399/e"}
xref: Orphanet:2399 {source="MONDO:equivalentTo", source="OMIM:167730"}
xref: SCTID:723411003 {source="MONDO:equivalentTo"}
xref: UMLS:C1868660 {source="MEDGEN:358378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2399"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome" xsd:anyURI {source="GARD:0003927"}

[Term]
id: MONDO:0008183
name: annular pancreas
def: "Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum." [Orphanet:675]
subset: gard_rare {source="GARD:705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:675"}
subset: ordo_morphological_anomaly {source="Orphanet:675"}
subset: orphanet_rare {source="Orphanet:675"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pancreas, annular" RELATED [OMIM:167750]
xref: DOID:0060850 {source="MONDO:equivalentTo"}
xref: GARD:705 {source="MONDO:GARD"}
xref: ICD10CM:Q45.1 {source="Orphanet:675", source="Orphanet:675/attributed", source="Orphanet:675/ntbt", source="DOID:0060850", source="MONDO:equivalentTo"}
xref: icd11.foundation:1311285827 {source="Orphanet:675", source="MONDO:equivalentTo"}
xref: MedDRA:10071757 {source="Orphanet:675", source="Orphanet:675/e"}
xref: MEDGEN:56211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536376 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="Orphanet:675/e"}
xref: NCIT:C98813 {source="MONDO:equivalentTo"}
xref: OMIM:167750 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="Orphanet:675/e"}
xref: Orphanet:675 {source="DOID:0060850", source="MONDO:equivalentTo", source="OMIM:167750"}
xref: SCTID:40315008 {source="MONDO:equivalentTo"}
xref: UMLS:C0149955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56211"}
is_a: MONDO:0002356 {source="https://orcid.org/0000-0002-4142-7153"} ! pancreas disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/705/annular-pancreas" xsd:anyURI {source="GARD:0000705"}

[Term]
id: MONDO:0008184
name: pancreas, dorsal, agenesis of
subset: gard_rare {source="GARD:15104", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agenesis of the dorsal pancreas" RELATED [GARD:0004203]
synonym: "complete agenesis of the dorsal pancreas" RELATED [GARD:0004203]
synonym: "congenital short pancreas" RELATED [GARD:0004203]
synonym: "pancreas agenesis, dorsal" RELATED [GARD:0004203]
synonym: "pancreas, dorsal, agenesis of" EXACT [OMIM:167755]
synonym: "partial agenesis of the dorsal pancreas" RELATED [GARD:0004203]
xref: GARD:15104 {source="MONDO:GARD"}
xref: MEDGEN:357024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538109 {source="MONDO:equivalentTo"}
xref: OMIM:167755 {source="MONDO:equivalentTo"}
xref: Orphanet:2805 {source="OMIM:167755"}
xref: UMLS:C1868659 {source="MEDGEN:357024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009832 {source="Orphanet:2805/btnt"} ! pancreatic agenesis

[Term]
id: MONDO:0008185
name: hereditary chronic pancreatitis
def: "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." [Orphanet:676]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:676"}
subset: orphanet_rare {source="Orphanet:676"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "autosomal dominant hereditary pancreatitis" RELATED [MESH:C537262]
synonym: "familial pancreatitis" RELATED [MESH:C537262]
synonym: "hereditary chronic pancreatitis" EXACT CLINGEN_LABEL [GARD:0006632, MESH:C537262, MONDO:patterns/hereditary]
synonym: "hereditary pancreatitis" EXACT [NCIT:C95436]
synonym: "Hp" RELATED [MESH:C537262, OMIM:167800]
synonym: "HPC" RELATED ABBREVIATION [MESH:C537262, OMIM:167800]
synonym: "pancreatitis, calcific" RELATED [OMIM:167800]
synonym: "pancreatitis, calcific, included" RELATED [MESH:C537262]
synonym: "pancreatitis, chronic" RELATED [OMIM:167800]
synonym: "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included" RELATED [MESH:C537262]
synonym: "pancreatitis, chronic, protection against" RELATED [OMIM:167800]
synonym: "pancreatitis, chronic, protection against, included" RELATED [MESH:C537262]
synonym: "pancreatitis, chronic, susceptibility to" RELATED [OMIM:167800]
synonym: "pancreatitis, hereditary" RELATED [MESH:C537262, MONDO:Lexical, OMIM:167800]
synonym: "PCTT" RELATED ABBREVIATION [MESH:C537262, MONDO:Lexical, OMIM:167800]
xref: GARD:6632 {source="MONDO:GARD"}
xref: ICD10CM:K86.1 {source="Orphanet:676", source="Orphanet:676/attributed", source="Orphanet:676/ntbt"}
xref: icd11.foundation:1287702961 {source="Orphanet:676", source="MONDO:equivalentTo"}
xref: ICD9:577.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:116056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537262 {source="MONDO:equivalentTo"}
xref: NANDO:1200921 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200942 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C95436 {source="MONDO:equivalentTo"}
xref: OMIM:167800 {source="Orphanet:676", source="GARD:0006632", source="MONDO:equivalentTo", source="Orphanet:676/e"}
xref: Orphanet:676 {source="GARD:0006632", source="MONDO:equivalentTo", source="OMIM:167800"}
xref: SCTID:68072000 {source="MONDO:equivalentTo"}
xref: UMLS:C0238339 {source="MEDGEN:116056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:676"} ! pancreas disorder
is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:676/inferred"} ! hereditary disease
is_a: MONDO:0004982 {source="MESH:C537262/inferred", source="MONDO:Redundant", source="NCIT:C95436"} ! pancreatitis
is_a: MONDO:0005003 {source="MESH:C537262", source="MONDO:Redundant"} ! chronic pancreatitis
intersection_of: MONDO:0005003 ! chronic pancreatitis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:676", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618", source="MONDO:0015967"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis" xsd:anyURI {source="GARD:0006632"}

[Term]
id: MONDO:0008186
name: pancytopenia and occlusive vascular disease
synonym: "pancytopenia and occlusive vascular disease" EXACT [OMIM:167850]
xref: MEDGEN:358375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566836 {source="MONDO:equivalentTo"}
xref: OMIM:167850 {source="MONDO:equivalentTo"}
xref: UMLS:C1868652 {source="MEDGEN:358375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008187
name: panic disorder 1
synonym: "PAND1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:167870]
synonym: "panic disorder" RELATED [OMIM:167870]
synonym: "panic disorder 1" EXACT [MONDO:Lexical, OMIM:167870]
synonym: "panic disorder susceptibility locus, chromosome 13Q-related" RELATED [OMIM:167870]
synonym: "panic disorder syndrome 1" EXACT [OMIM:167870, OMIM:genemap2]
synonym: "panic disorder with bladder conditions" RELATED [OMIM:167870]
synonym: "panic disorder with Joint laxity" RELATED [OMIM:167870]
synonym: "panic disorder, susceptibility to" EXACT [OMIM:167870, OMIM:genemap2]
xref: MEDGEN:401493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:167870 {source="MONDO:equivalentTo"}
xref: UMLS:C1868649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401493"}
is_a: MONDO:0003847 {source="OMIM:167870"} ! hereditary disease
is_a: MONDO:0031240 {source="DC-OMIM:167870", source="OMIM:167870"} ! familial panic disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2228 {source="MONDO:mim2gene_medgen"} ! COMT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008188
name: papillomatosis, confluent and reticulated
synonym: "carp" RELATED [MONDO:Lexical, OMIM:167900]
synonym: "papillomatosis, confluent and reticulated" EXACT [MONDO:Lexical, OMIM:167900]
synonym: "papillomatosis, familial cutaneous" RELATED [OMIM:167900]
synonym: "papillomatosis, reticulated and confluent, of Gougerot and Carteaud" RELATED [OMIM:167900]
xref: MEDGEN:472991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566832 {source="MONDO:equivalentTo"}
xref: OMIM:167900 {source="MONDO:equivalentTo"}
xref: UMLS:C0263385 {source="MEDGEN:472991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008189
name: papillomatosis, florid, of nipple
def: "A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis." [NCIT:P378]
synonym: "erosive adenomatosis of nipple" EXACT [NCIT:C4383]
synonym: "erosive adenomatosis of the nipple" RELATED [GARD:0010174]
synonym: "erosive nipple adenomatosis" EXACT [NCIT:C4383]
synonym: "florid papillomatosis" RELATED [GARD:0010174]
synonym: "florid papillomatosis of the nipple" RELATED [GARD:0010174]
synonym: "papillomatosis florid of nipple" RELATED [GARD:0010174]
synonym: "papillomatosis, florid, of nipple" EXACT [OMIM:167950]
xref: MEDGEN:401492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537167 {source="MONDO:equivalentTo"}
xref: NCIT:C4383 {source="MONDO:equivalentObsolete"}
xref: OMIM:167950 {source="MONDO:equivalentTo"}
xref: SCTID:237467005 {source="MONDO:equivalentTo"}
xref: UMLS:C1868647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401492"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10174/florid-papillomatosis-of-the-nipple" xsd:anyURI {source="GARD:0010174"}

[Term]
id: MONDO:0008190
name: obsolete human papillomavirus type 18 integration site 1
xref: OMIM:167959 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: http://identifiers.org/hgnc/5166 {source="MONDO:mim2gene_medgen"}

[Term]
id: MONDO:0008191
name: obsolete human papillomavirus type 18 integration site 2
xref: OMIM:167960 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: http://identifiers.org/hgnc/5167 {source="MONDO:mim2gene_medgen"}

[Term]
id: MONDO:0008192
name: paragangliomas 1
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:7324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carotid body tumors" RELATED [OMIM:168000]
synonym: "carotid body tumours" RELATED OMO:0003005 []
synonym: "chemodectomas" RELATED [OMIM:168000]
synonym: "glomus jugulare tumors" RELATED [OMIM:168000]
synonym: "glomus jugulare tumours" RELATED OMO:0003005 []
synonym: "glomus tumors, familial, 1" RELATED [OMIM:168000]
synonym: "paraganglioma caused by mutation in SDHD" EXACT [MONDO:design_pattern]
synonym: "paraganglioma, carotid body" RELATED [OMIM:168000]
synonym: "paragangliomas 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:168000]
synonym: "paragangliomas 1, with or without deafness" EXACT [OMIM:168000, OMIM:genemap2]
synonym: "paragangliomas type 1" EXACT [MONDORULE:1, OMIM:168000]
synonym: "paragangliomas with sensorineural hearing loss" RELATED [OMIM:168000]
synonym: "paragangliomas, familial nonchromaffin, 1" RELATED [OMIM:168000]
synonym: "paragangliomas, familial, 1" RELATED [OMIM:168000]
synonym: "Paragangliomata" RELATED [OMIM:168000]
synonym: "PGL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168000]
synonym: "SDHD paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:7324 {source="MONDO:GARD"}
xref: MEDGEN:488134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:168000 {source="MONDO:equivalentTo"}
xref: Orphanet:29072 {source="OMIM:168000"}
xref: UMLS:C3494181 {source="MEDGEN:488134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000448 {source="DC-OMIM:168000", source="MONDO:Redundant", source="OMIM:168000"} ! paraganglioma
is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 ! SDHD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 {source="MONDO:mim2gene_medgen"} ! SDHD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008193
name: paralysis agitans, juvenile, of Hunt
subset: gard_rare {source="GARD:10359", source="MONDO:GARD"}
subset: rare
synonym: "paralysis agitans, juvenile, of Hunt" EXACT [OMIM:168100]
synonym: "Parkinson disease, juvenile, of Hunt" RELATED [OMIM:168100]
xref: GARD:10359 {source="MONDO:GARD"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562469 {source="MONDO:equivalentTo"}
xref: OMIM:168100 {source="MONDO:equivalentTo"}
xref: Orphanet:171695 {source="OMIM:168100"}
xref: SCTID:43647007 {source="MONDO:equivalentTo"}
xref: UMLS:C0238344 {source="MEDGEN:66768", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009830 {source="Orphanet:171695/btnt"} ! parkinsonian-pyramidal syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt" xsd:anyURI {source="GARD:0010359"}

[Term]
id: MONDO:0008194
name: Paramolar tubercle of bolk
synonym: "bolk cusp" RELATED [OMIM:168200]
synonym: "Paramolar tubercle of bolk" EXACT [OMIM:168200]
xref: MEDGEN:539640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:168200 {source="MONDO:equivalentTo"}
xref: SCTID:78305006 {source="MONDO:equivalentTo"}
xref: UMLS:C0266029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539640"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008195
name: paramyotonia congenita of Von Eulenburg
def: "Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." [Orphanet:684]
subset: gard_rare {source="GARD:7325", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:684"}
subset: orphanet_rare {source="Orphanet:684"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Eulenburg disease" RELATED [GARD:0007325]
synonym: "myotonia congenita intermittens" RELATED [GARD:0007325]
synonym: "paralysis periodica Paramyotonica" RELATED [OMIM:168300]
synonym: "paramyotonia congenita" EXACT [Orphanet:684]
synonym: "paramyotonia congenita of VON Eulenburg" RELATED [OMIM:168300]
synonym: "paramyotonia congenita of Von Eulenburg" EXACT [MONDO:Lexical, OMIM:168300]
synonym: "paramyotonia congenita without cold paralysis" RELATED [OMIM:168300]
synonym: "PMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168300]
synonym: "Von Eulenburg paramyotonia congenita" RELATED [GARD:0007325]
xref: DOID:0111538 {source="MONDO:equivalentTo"}
xref: GARD:7325 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:684/ntbt", source="Orphanet:684/inclusion", source="Orphanet:684"}
xref: icd11.foundation:1740060527 {source="MONDO:equivalentTo", source="Orphanet:684", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:113142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538616 {source="Orphanet:684/e", source="Orphanet:684"}
xref: NANDO:1200501 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122790 {source="MONDO:equivalentTo"}
xref: OMIM:168300 {source="Orphanet:684/e", source="MONDO:equivalentTo", source="Orphanet:684"}
xref: Orphanet:684 {source="MONDO:equivalentTo", source="OMIM:168300"}
xref: SCTID:41574007 {source="MONDO:equivalentTo"}
xref: UMLS:C0221055 {source="MEDGEN:113142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016120 {source="Orphanet:684"} ! myotonic syndrome
is_a: MONDO:0019119 {source="Orphanet:684"} ! muscular channelopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="MONDO:mim2gene_medgen"} ! SCN4A

[Term]
id: MONDO:0008196
name: parastremmatic dwarfism
def: "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." [Orphanet:2646]
subset: gard_rare {source="GARD:4222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:2646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "parastremmatic dwarfism" EXACT [OMIM:168400]
synonym: "Parastremmatic dysplasia" RELATED [GARD:0004222]
xref: DOID:0111539 {source="MONDO:equivalentTo"}
xref: GARD:4222 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2646", source="Orphanet:2646/attributed", source="Orphanet:2646/ntbt"}
xref: MEDGEN:358366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537172 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"}
xref: OMIM:168400 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"}
xref: Orphanet:2646 {source="MONDO:equivalentTo", source="OMIM:168400"}
xref: SCTID:722210007 {source="MONDO:equivalentTo"}
xref: UMLS:C1868616 {source="MEDGEN:358366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018240 {source="Orphanet:2646"} ! TRPV4-related bone disorder
is_a: MONDO:0019698 {source="Orphanet:2646"} ! bent bone dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism" xsd:anyURI {source="GARD:0004222"}

[Term]
id: MONDO:0008197
name: parietal foramina 1
def: "Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "catlin Marks" RELATED [OMIM:168500]
synonym: "cranium bifidum occultum" RELATED [OMIM:168500]
synonym: "cranium bifidum, hereditary" RELATED [OMIM:168500]
synonym: "foramina parietalia permagna" RELATED [OMIM:168500]
synonym: "MSX2 parietal foramina" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "parietal foramina" RELATED [MONDO:Lexical, OMIM:168500]
synonym: "parietal foramina 1" EXACT [OMIM:168500]
synonym: "parietal foramina caused by mutation in MSX2" EXACT [MONDO:design_pattern]
synonym: "parietal foramina, symmetric" RELATED [OMIM:168500]
synonym: "PFM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168500]
synonym: "PFM1" RELATED ABBREVIATION [OMIM:168500]
xref: GARD:18051 {source="MONDO:GARD"}
xref: MEDGEN:401480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566827 {source="MONDO:equivalentTo"}
xref: OMIM:168500 {source="MONDO:equivalentTo"}
xref: Orphanet:60015 {source="OMIM:168500"}
xref: UMLS:C1868599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401480"}
is_a: MONDO:0018953 {source="DC-OMIM:168500", source="MONDO:Redundant", source="OMIM:168500"} ! parietal foramina
intersection_of: MONDO:0018953 ! parietal foramina
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7392 ! MSX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7392 {source="MONDO:mim2gene_medgen"} ! MSX2

[Term]
id: MONDO:0008198
name: parietal foramina with cleidocranial dysplasia
def: "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." [Orphanet:251290]
subset: gard_rare {source="GARD:17207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251290"}
subset: ordo_malformation_syndrome {source="Orphanet:251290"}
subset: orphanet_rare {source="Orphanet:251290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleidocranial dysplasia with parietal foramina" RELATED [OMIM:168550]
synonym: "parietal foramina with clavicular hypoplasia" RELATED [Orphanet:251290]
synonym: "parietal foramina with cleidocranial dysostosis" EXACT [Orphanet:251290]
synonym: "parietal foramina with cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:168550]
synonym: "PFMCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168550]
xref: GARD:17207 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:251290/attributed", source="Orphanet:251290/ntbt", source="Orphanet:251290"}
xref: MEDGEN:401479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566825 {source="MONDO:equivalentTo"}
xref: OMIM:168550 {source="Orphanet:251290/e", source="MONDO:equivalentTo", source="Orphanet:251290"}
xref: Orphanet:251290 {source="OMIM:168550", source="MONDO:equivalentTo"}
xref: UMLS:C1868597 {source="MONDO:equivalentTo", source="MEDGEN:401479", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7392 {source="MONDO:mim2gene_medgen"} ! MSX2

[Term]
id: MONDO:0008199
name: late-onset Parkinson disease
def: "A Parkinson disease that begins after around the age of 50." [https://medlineplus.gov/genetics/condition/parkinson-disease/]
subset: gard_rare {source="GARD:17684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411602"}
subset: orphanet_rare {source="Orphanet:411602"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant late-onset Parkinson disease" EXACT [Orphanet:411602]
synonym: "hereditary late onset Parkinson disease" EXACT []
synonym: "hereditary late-onset Parkinson disease" EXACT [Orphanet:411602]
synonym: "late onset Parkinson disease" EXACT [DOID:0060892]
synonym: "late onset Parkinson's disease" EXACT [DOID:0060892]
synonym: "late-onset Parkinson disease" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/working-groups/actionability/, Orphanet:411602]
synonym: "LOPD" EXACT ABBREVIATION [Orphanet:411602]
synonym: "PARK" EXACT [OMIM:168600]
synonym: "Parkinson disease, age of onset, modifier, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2]
synonym: "Parkinson disease, late-onset" EXACT [MONDO:Lexical, OMIM:168600]
synonym: "Parkinson disease, late-onset, susceptibility to, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2]
synonym: "Parkinson disease, susceptibility to, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2]
synonym: "PD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168600]
xref: DOID:0060892 {source="MONDO:equivalentTo"}
xref: GARD:17684 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="Orphanet:411602", source="Orphanet:411602/attributed", source="Orphanet:411602/ntbt"}
xref: MEDGEN:463618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:168600 {source="MONDO:equivalentTo"}
xref: Orphanet:411602 {source="DOID:0060892", source="MONDO:equivalentTo"}
xref: SCTID:716662004 {source="MONDO:equivalentTo"}
xref: UMLS:C3160718 {source="MEDGEN:463618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DC-OMIM:168600", source="DOID:0060892", source="MONDO:Redundant", source="OMIM:168600", source="Orphanet:411602"} ! Parkinson disease
is_a: MONDO:0021095 ! parkinsonian disorder
intersection_of: MONDO:0005180 {source="https://medlineplus.gov/genetics/condition/parkinson-disease/"} ! Parkinson disease
intersection_of: has_onset_during_or_after HsapDv:0000144 {source="https://medlineplus.gov/genetics/condition/parkinson-disease/"} ! 50-year-old stage
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0015914 {source="Orphanet:411602", source="https://orcid.org/0000-0001-5208-3432"} ! primary orthostatic hypotension
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3776" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0008200
name: autosomal dominant Parkinson disease 1
comment: Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation
subset: gard_rare {source="GARD:18474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "atypical Parkinson disease" RELATED [OMIM:168601]
synonym: "autosomal dominant Parkinson disease 1" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant Parkinson disease type 1" EXACT [DOID:0060367, MONDORULE:1]
synonym: "autosomal dominant Parkinson's disease 1" RELATED [DOID:0060367]
synonym: "PARK1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168601]
synonym: "Parkinson disease 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:168601]
synonym: "Parkinson disease 1, autosomal dominant Lewy body" RELATED [OMIM:168601]
xref: DOID:0060367 {source="MONDO:equivalentTo"}
xref: GARD:18474 {source="MONDO:GARD"}
xref: MEDGEN:357008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566823 {source="MONDO:equivalentTo"}
xref: OMIM:168601 {source="DOID:0060367", source="MONDO:equivalentTo"}
xref: Orphanet:171695 {source="OMIM:168601", source="MONDO:directSiblingOf"}
xref: Orphanet:411602 {source="OMIM:168601"}
xref: UMLS:C1868595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357008"}
is_a: MONDO:0005180 {source="DOID:0060367/inferred", source="MESH:C566823", source="MONDO:Redundant", source="OMIM:168601"} ! Parkinson disease
is_a: MONDO:0008199 {source="DOID:0060367", source="Orphanet:411602"} ! late-onset Parkinson disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11138 {source="MONDO:mim2gene_medgen"} ! SNCA

[Term]
id: MONDO:0008201
name: Perry syndrome
def: "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." [Orphanet:178509]
subset: gard_rare {source="GARD:10453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178509"}
subset: orphanet_rare {source="Orphanet:178509"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Parkinsonism with alveolar hypoventilation and mental depression" EXACT [OMIM:168605, Orphanet:178509]
synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [DOID:0060486]
synonym: "Perry syndrome" EXACT [OMIM:168605]
xref: DOID:0060486 {source="MONDO:equivalentTo"}
xref: GARD:10453 {source="MONDO:GARD"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:357007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566822 {source="DOID:0060486", source="MONDO:equivalentTo"}
xref: NANDO:1200547 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:168605 {source="DOID:0060486", source="Orphanet:178509/e", source="MONDO:equivalentTo", source="Orphanet:178509"}
xref: Orphanet:178509 {source="DOID:0060486", source="MONDO:equivalentTo", source="OMIM:168605"}
xref: SCTID:699184009 {source="MONDO:equivalentTo"}
xref: UMLS:C1868594 {source="MEDGEN:357007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060486"} ! syndromic disease
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2711 {source="MONDO:mim2gene_medgen"} ! DCTN1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome" xsd:anyURI {source="GARD:0010453"}

[Term]
id: MONDO:0008202
name: Parotidomegaly, hereditary bilateral
synonym: "Parotidomegaly, hereditary bilateral" EXACT [OMIM:168800]
xref: MEDGEN:401477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566821 {source="MONDO:equivalentTo"}
xref: OMIM:168800 {source="MONDO:equivalentTo"}
xref: UMLS:C1868590 {source="MEDGEN:401477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566821"} ! hereditary disease

[Term]
id: MONDO:0008203
name: Passovoy factor defect
synonym: "Passovoy factor defect" EXACT [OMIM:168830]
xref: MEDGEN:461057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:168830 {source="MONDO:equivalentTo"}
xref: UMLS:C3149707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461057"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008204
name: obsolete patella aplasia, coxa vara, and tarsal synostosis
synonym: "patella aplasia, coxa vara, and tarsal synostosis" RELATED [OMIM:168850]
xref: MESH:C536307 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:168850 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:3112 {source="OMIM:168850"}
is_obsolete: true
consider: MONDO:0007841

[Term]
id: MONDO:0008205
name: patella aplasia/hypoplasia
def: "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." [Orphanet:86789]
subset: gard_rare {source="GARD:8709", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86789"}
subset: ordo_morphological_anomaly {source="Orphanet:86789"}
subset: orphanet_rare {source="Orphanet:86789"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absent patella" RELATED [GARD:0008709]
synonym: "familial absence of the patella" RELATED [GARD:0008709]
synonym: "familial aplasia of the patella (subtype)" RELATED [GARD:0008709]
synonym: "patella aplasia or hypoplasia" EXACT [OMIM:168860, OMIM:genemap2]
synonym: "patella aplasia-hypoplasia" RELATED [MONDO:Lexical, OMIM:168860]
synonym: "PTLAH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168860, Orphanet:86789]
xref: GARD:8709 {source="MONDO:GARD"}
xref: ICD10CM:Q74.1 {source="Orphanet:86789/inclusion", source="Orphanet:86789", source="Orphanet:86789/ntbt"}
xref: icd11.foundation:88577362 {source="MONDO:equivalentTo", source="Orphanet:86789", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:358246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535568 {source="MONDO:equivalentTo", source="Orphanet:86789", source="Orphanet:86789/e"}
xref: OMIM:168860 {source="MONDO:equivalentTo", source="Orphanet:86789", source="Orphanet:86789/e"}
xref: Orphanet:86789 {source="MONDO:equivalentTo", source="OMIM:168860"}
xref: UMLS:C1868577 {source="MEDGEN:358246", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:29322497", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008206
name: benign paroxysmal tonic upgaze of childhood with ataxia
def: "Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset." [Orphanet:1179]
subset: gard_rare {source="GARD:4176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1179"}
subset: orphanet_rare {source="Orphanet:1179"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ouvrier Billson syndrome" RELATED [GARD:0004176]
synonym: "Ouvrier-Billson syndrome" EXACT [Orphanet:1179]
synonym: "paroxysmal tonic upgaze, benign childhood, with ataxia" RELATED [OMIM:168885]
xref: GARD:4176 {source="MONDO:GARD"}
xref: ICD10CM:G96.8 {source="Orphanet:1179/attributed", source="Orphanet:1179/ntbt", source="Orphanet:1179"}
xref: MEDGEN:401473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566817 {source="MONDO:equivalentTo"}
xref: OMIM:168885 {source="Orphanet:1179", source="MONDO:equivalentTo", source="Orphanet:1179/e"}
xref: Orphanet:1179 {source="MONDO:equivalentTo", source="OMIM:168885"}
xref: SCTID:763127004 {source="MONDO:equivalentTo"}
xref: UMLS:C1868576 {source="MEDGEN:401473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="MONDO:0017657-obsoleted"} ! movement disorder

[Term]
id: MONDO:0008207
name: chondromalacia patellae
def: "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." [Orphanet:1428]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondromalacia of patella" EXACT [DOID:13357, ICD9CM:717.7]
synonym: "chondromalacia patellae" EXACT [DOID:13357]
synonym: "familial chondromalacia patellae" RELATED [Orphanet:1428]
synonym: "patella chondromalacia" EXACT [MONDO:patterns/location]
synonym: "patella, chondromalacia OF" RELATED [OMIM:168900]
synonym: "softening of articular cartilage of patella" EXACT [DOID:13357]
xref: DOID:13357 {source="MONDO:equivalentTo"}
xref: ICD10CM:M22.4 {source="MONDO:equivalentTo", source="Orphanet:1428", source="Orphanet:1428/attributed", source="Orphanet:1428/ntbt", source="DOID:13357"}
xref: ICD9:717.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13357"}
xref: MEDGEN:939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046789 {source="MONDO:equivalentTo", source="DOID:13357"}
xref: OMIM:168900 {source="Orphanet:1428/e", source="MONDO:equivalentTo", source="Orphanet:1428", source="DOID:13357"}
xref: Orphanet:1428 {source="MONDO:equivalentObsolete", source="OMIM:168900"}
xref: SCTID:156521009 {source="DOID:13357"}
xref: SCTID:36071006 {source="MONDO:equivalentTo", source="DOID:13357"}
xref: UMLS:C0008475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:939"}
is_a: MONDO:0002342 {source="DOID:13357", source="MONDO:Redundant"} ! chondromalacia
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
intersection_of: MONDO:0002342 ! chondromalacia
intersection_of: disease_has_location UBERON:0002446 ! patella
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008208
name: patella, familial recurrent dislocation of
synonym: "patella, familial recurrent dislocation of" EXACT [OMIM:169000]
xref: MEDGEN:358245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566816 {source="MONDO:equivalentTo"}
xref: OMIM:169000 {source="MONDO:equivalentTo"}
xref: UMLS:C1868575 {source="MEDGEN:358245", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008209
name: Char syndrome
def: "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." [Orphanet:46627]
subset: gard_rare {source="GARD:1237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:46627"}
subset: ordo_malformation_syndrome {source="Orphanet:46627"}
subset: orphanet_rare {source="Orphanet:46627"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHAR" RELATED ABBREVIATION [OMIM:169100]
synonym: "Char" RELATED [OMIM:169100]
synonym: "CHAR syndrome" RELATED [OMIM:169100]
synonym: "Char syndrome" EXACT [OMIM:169100]
synonym: "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits" RELATED [OMIM:169100]
synonym: "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" EXACT [Orphanet:46627]
xref: DOID:0060563 {source="MONDO:equivalentTo"}
xref: GARD:1237 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:46627/attributed", source="Orphanet:46627/ntbt", source="Orphanet:46627"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:358356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538076 {source="Orphanet:46627", source="Orphanet:46627/e"}
xref: MESH:C566815 {source="DOID:0060563", source="MONDO:equivalentTo"}
xref: OMIM:169100 {source="DOID:0060563", source="Orphanet:46627", source="MONDO:equivalentTo", source="Orphanet:46627/e"}
xref: Orphanet:46627 {source="OMIM:169100", source="MONDO:equivalentTo"}
xref: SCTID:703534001 {source="MONDO:equivalentTo"}
xref: UMLS:C1868570 {source="MEDGEN:358356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0011827 {source="DOID:0060563", source="MESH:C566815"} ! patent ductus arteriosus
is_a: MONDO:0015160 {source="Orphanet:46627"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11743 {source="MONDO:mim2gene_medgen"} ! TFAP2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1237/char-syndrome" xsd:anyURI {source="GARD:0001237"}

[Term]
id: MONDO:0008210
name: patterned macular dystrophy 1
def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "butterfly dystrophy of retinal pigment epithelium" RELATED [OMIM:169150]
synonym: "butterfly-shaped pigment dystrophy of the fovea" RELATED [GARD:0009821]
synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT [DOID:0060866]
synonym: "macular dystrophy, butterfly-Shaped pigmentary" RELATED [OMIM:169150]
synonym: "macular dystrophy, butterfly-shaped pigmentary" EXACT [OMIM:169150]
synonym: "macular dystrophy, patterned, 1" RELATED [MONDO:Lexical, OMIM:169150]
synonym: "macular dystrophy, patterned, type 1" EXACT [MONDORULE:1, OMIM:169150]
synonym: "MDPT1" EXACT ABBREVIATION [DOID:0060866, MONDO:Lexical, OMIM:169150]
synonym: "patterned dystrophy of retinal pigment epithelium" RELATED [OMIM:169150]
synonym: "patterned macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern]
synonym: "patterned macular dystrophy type 1" EXACT [DOID:0060866, MONDORULE:1]
synonym: "PRPH2 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060866 {source="MONDO:equivalentTo"}
xref: GARD:18237 {source="MONDO:GARD"}
xref: MEDGEN:1646806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:169150 {source="MONDO:equivalentTo", source="DOID:0060866"}
xref: Orphanet:99001 {source="OMIM:169150"}
xref: UMLS:C4551999 {source="MEDGEN:1646806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020381 {source="DOID:0060866", source="MONDO:Redundant", source="OMIM:169150"} ! patterned macular dystrophy
intersection_of: MONDO:0020381 ! patterned macular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 ! PRPH2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 {source="MONDO:mim2gene_medgen"} ! PRPH2

[Term]
id: MONDO:0008211
name: pseudoleprechaunism syndrome, Patterson type
def: "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981." [Orphanet:2976]
subset: gard_rare {source="GARD:4259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2976"}
subset: ordo_malformation_syndrome {source="Orphanet:2976"}
subset: orphanet_rare {source="Orphanet:2976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Patterson pseudoleprechaunism syndrome" RELATED [OMIM:169170]
synonym: "Patterson syndrome" EXACT [Orphanet:2976]
synonym: "Patterson's leprechaunoid syndrome" RELATED [GARD:0004259]
xref: GARD:4259 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:2976", source="Orphanet:2976/attributed", source="Orphanet:2976/ntbt"}
xref: MEDGEN:358350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536310 {source="MONDO:equivalentTo", source="Orphanet:2976", source="Orphanet:2976/e"}
xref: OMIM:169170 {source="MONDO:equivalentTo", source="Orphanet:2976", source="Orphanet:2976/e"}
xref: Orphanet:2976 {source="MONDO:equivalentTo", source="OMIM:169170"}
xref: UMLS:C1868546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358350"}
is_a: MONDO:0005495 {source="Orphanet:2976"} ! adrenal gland disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare

[Term]
id: MONDO:0008212
name: Pechet factor deficiency
synonym: "Dynia factor deficiency" RELATED [OMIM:169200]
synonym: "Pechet factor deficiency" EXACT [OMIM:169200]
xref: MEDGEN:358349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566814 {source="MONDO:equivalentTo"}
xref: OMIM:169200 {source="MONDO:equivalentTo"}
xref: UMLS:C1868545 {source="MEDGEN:358349", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566814/inferred"} ! hereditary disease

[Term]
id: MONDO:0008213
name: pectus excavatum
def: "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax." [MESH:D005660]
synonym: "funnel chest" RELATED [OMIM:169300]
synonym: "pectus excavatum" EXACT [MONDO:ambiguous, OMIM:169300]
synonym: "pectus excavatum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0000767 {source="MONDO:otherHierarchy"}
xref: ICD9:754.81 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:781174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005660 {source="MONDO:equivalentTo"}
xref: OMIM:169300 {source="MONDO:equivalentTo"}
xref: SCTID:391987005 {source="MONDO:equivalentTo"}
xref: UMLS:C2051831 {source="MEDGEN:781174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "pectus excavatum (disease)" xsd:string

[Term]
id: MONDO:0008214
name: Pelger-Huet anomaly
def: "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear." [NCIT:P378]
subset: gard_rare {source="GARD:9148", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities" RELATED [GARD:0009148]
synonym: "Pelger Huet anomaly" RELATED [GARD:0009148]
synonym: "Pelger-Huet anomaly" EXACT [MONDO:Lexical, OMIM:169400]
synonym: "Pelger-Huet nuclear anomaly" RELATED [GARD:0009148]
synonym: "PHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169400]
xref: DOID:9631 {source="MONDO:equivalentTo", source="EFO:1001093"}
xref: EFO:1001093 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9148 {source="MONDO:GARD"}
xref: MedDRA:10029377 {source="EFO:1001093"}
xref: MEDGEN:10617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010381 {source="MONDO:equivalentTo", source="EFO:1001093", source="DOID:9631"}
xref: NCIT:C85002 {source="MONDO:equivalentTo", source="EFO:1001093", source="DOID:9631"}
xref: OMIM:169400 {source="MONDO:equivalentTo", source="DOID:9631"}
xref: SCTID:191356000 {source="DOID:9631"}
xref: SCTID:85559002 {source="MONDO:equivalentTo", source="DOID:9631"}
xref: UMLS:C0030779 {source="MONDO:equivalentTo", source="MEDGEN:10617", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:9631", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:169400"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6518 {source="MONDO:mim2gene_medgen"} ! LBR

[Term]
id: MONDO:0008215
name: adult-onset autosomal dominant demyelinating leukodystrophy
def: "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." [Orphanet:99027]
subset: gard_rare {source="GARD:10587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99027"}
subset: orphanet_rare {source="Orphanet:99027"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADLD" EXACT ABBREVIATION [DOID:0060785, MONDO:Lexical, OMIM:169500, Orphanet:99027]
synonym: "adult-onset autosomal dominant demyelinating leukodystrophy" EXACT CLINGEN_LABEL [Orphanet:99027]
synonym: "adult-onset autosomal dominant leukodystrophy" EXACT [DOID:0060785]
synonym: "autosomal dominant adult-onset demyelinating leukodystrophy" RELATED [GARD:0010587]
synonym: "autosomal dominant leukodystrophy with autonomic disease" RELATED [GARD:0010587]
synonym: "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" EXACT [DOID:0060785]
synonym: "leukodystrophy, adult-onset, autosomal dominant" EXACT [OMIM:169500, OMIM:genemap2]
synonym: "leukodystrophy, demyelinating, ADULT-onset, autosomal dominant" RELATED [MONDO:Lexical, OMIM:169500]
synonym: "multiple sclerosis-like disorder" RELATED [GARD:0010587]
synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type" RELATED [OMIM:169500]
synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly" RELATED [OMIM:169500]
xref: DECIPHER:59 {source="MONDO:equivalentTo"}
xref: DOID:0060785 {source="MONDO:equivalentTo"}
xref: GARD:10587 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:99027", source="DOID:0060785", source="Orphanet:99027/attributed", source="Orphanet:99027/ntbt"}
xref: MEDGEN:356995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566813 {source="MONDO:equivalentTo"}
xref: OMIM:169500 {source="Orphanet:99027", source="DOID:0060785", source="MONDO:equivalentTo", source="Orphanet:99027/e"}
xref: Orphanet:99027 {source="DOID:0060785", source="MONDO:equivalentTo", source="OMIM:169500"}
xref: SCTID:448054001 {source="MONDO:equivalentTo"}
xref: UMLS:C1868512 {source="MONDO:equivalentTo", source="MEDGEN:356995", source="MONDO:MEDGEN"}
is_a: MONDO:0016956 {source="Orphanet:99027"} ! partial trisomy of the long arm of chromosome 5
is_a: MONDO:0019046 {source="DOID:0060785", source="Orphanet:99027", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6637 {source="MONDO:mim2gene_medgen"} ! LMNB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008216
name: pelvic lipomatosis with crossed renal ectopia
synonym: "pelvic lipomatosis with crossed renal ectopia" EXACT [OMIM:169545]
xref: MEDGEN:356994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566812 {source="MONDO:equivalentTo"}
xref: OMIM:169545 {source="MONDO:equivalentTo"}
xref: UMLS:C1868511 {source="MEDGEN:356994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008217
name: pelvis-shoulder dysplasia
def: "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." [Orphanet:2839]
subset: gard_rare {source="GARD:16611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2839"}
subset: ordo_malformation_syndrome {source="Orphanet:2839"}
subset: orphanet_rare {source="Orphanet:2839"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kosenow syndrome" EXACT [OMIM:169550, Orphanet:2839]
synonym: "pelvis-shoulder dysplasia" EXACT [OMIM:169550]
synonym: "Scapuloiliac dysostosis" EXACT [OMIM:169550, Orphanet:2839]
xref: GARD:16611 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2839/attributed", source="Orphanet:2839/ntbt", source="Orphanet:2839"}
xref: MEDGEN:356991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566811 {source="MONDO:equivalentTo"}
xref: OMIM:169550 {source="Orphanet:2839/e", source="MONDO:equivalentTo", source="Orphanet:2839"}
xref: Orphanet:2839 {source="OMIM:169550", source="MONDO:equivalentTo"}
xref: SCTID:719298001 {source="MONDO:equivalentTo"}
xref: UMLS:C1868508 {source="MEDGEN:356991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008218
name: Hailey-Hailey disease
def: "Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva)." [Orphanet:2841]
subset: gard_rare {source="GARD:6559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1211"}
subset: ordo_disorder {source="Orphanet:2841"}
subset: orphanet_rare {source="Orphanet:2841"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCPM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169600]
synonym: "benign chronic familial pemphigus of Hailey-Hailey" EXACT [Orphanet:2841]
synonym: "benign chronic pemphigus" EXACT [DOID:0050429, MONDO:Lexical, OMIM:169600]
synonym: "benign familial pemphigus" RELATED [GARD:0006559]
synonym: "familial benign chronic pemphigus" RELATED [Orphanet:2841]
synonym: "familial benign pemphigus" RELATED [GARD:0006559]
synonym: "Hailey-Hailey disease" EXACT [OMIM:169600, Orphanet:2841]
synonym: "pemphigus, benign familial" EXACT [DOID:0050429, OMIM:169600]
xref: DOID:0050429 {source="MONDO:equivalentTo"}
xref: GARD:6559 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2841/ntbt", source="Orphanet:2841/inclusion", source="Orphanet:2841", source="DOID:0050429"}
xref: MEDGEN:43100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016506 {source="MONDO:equivalentTo", source="DOID:0050429"}
xref: NANDO:1200631 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C82865 {source="MONDO:equivalentTo", source="DOID:0050429"}
xref: NORD:1211 {source="MONDO:NORD"}
xref: OMIM:169600 {source="Orphanet:2841", source="MONDO:equivalentTo", source="DOID:0050429", source="Orphanet:2841/e"}
xref: Orphanet:2841 {source="MONDO:equivalentTo", source="OMIM:169600"}
xref: SCTID:79468000 {source="MONDO:equivalentTo", source="DOID:0050429"}
xref: UMLS:C0085106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43100"}
is_a: MONDO:0006594 {source="DOID:0050429", source="NCIT:C82865"} ! pemphigus
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13211 {source="MONDO:mim2gene_medgen"} ! ATP2C1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease" xsd:anyURI {source="GARD:0006559"}

[Term]
id: MONDO:0008219
name: pemphigus vulgaris
def: "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%)." [Orphanet:704]
comment: Editor note: check familial vs acquired
subset: gard_rare {source="GARD:7355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:704"}
subset: orphanet_rare {source="Orphanet:704"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial pemphigus vulgaris" EXACT [DOID:0060851]
synonym: "pemphigus vulgaris, familial" RELATED [OMIM:169610]
xref: DOID:0060851 {source="MONDO:equivalentTo"}
xref: EFO:0004719 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7355 {source="MONDO:GARD"}
xref: ICD10CM:L10.0 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="Orphanet:704/e"}
xref: icd11.foundation:278358681 {source="MONDO:equivalentTo", source="Orphanet:704"}
xref: MedDRA:10052802 {source="Orphanet:704", source="Orphanet:704/e"}
xref: MEDGEN:10621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536645 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:1200229 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34910 {source="MONDO:equivalentTo", source="EFO:0004719"}
xref: OMIM:169610 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="GARD:0004270", source="Orphanet:704/btnt"}
xref: Orphanet:704 {source="DOID:0060851", source="MONDO:equivalentTo", source="GARD:0004270", source="OMIM:169610"}
xref: SCTID:49420001 {source="MONDO:equivalentTo", source="EFO:0004719"}
xref: UMLS:C0030809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10621"}
is_a: MONDO:0006594 {source="DOID:0060851", source="EFO:0004719", source="ICD10CM:L10.0", source="NCIT:C34910"} ! pemphigus

[Term]
id: MONDO:0008220
name: obsolete pepsinogen 3, group 1
comment: This entity is not a disease.
synonym: "pepsinogen 3, group I" RELATED [MONDO:Lexical, OMIM:169710]
synonym: "pepsinogen 3, Group type 1" EXACT [MONDORULE:1, OMIM:169710]
synonym: "pepsinogen I--second locus" RELATED [OMIM:169710]
synonym: "PGA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169710]
xref: OMIM:169710 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008221
name: prolidase deficiency
def: "An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." [Orphanet:742]
subset: gard_rare {source="GARD:7473", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:742"}
subset: orphanet_rare {source="Orphanet:742"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperimidodipeptiduria" EXACT [Orphanet:742]
synonym: "Imidodipeptidase deficiency" RELATED [GARD:0007473]
synonym: "Peptidase deficiency" RELATED [GARD:0007473]
synonym: "prolidase deficiency" EXACT CLINGEN_LABEL [OMIM:170100]
xref: DOID:0111540 {source="MONDO:equivalentTo"}
xref: GARD:7473 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:742", source="Orphanet:742/attributed", source="Orphanet:742/ntbt"}
xref: icd11.foundation:1416203271 {source="Orphanet:742", source="MONDO:equivalentTo"}
xref: MEDGEN:120647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056732 {source="Orphanet:742", source="MONDO:equivalentTo", source="Orphanet:742/e"}
xref: NANDO:2200472 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85029 {source="MONDO:equivalentTo"}
xref: OMIM:170100 {source="Orphanet:742", source="MONDO:equivalentTo", source="Orphanet:742/e"}
xref: Orphanet:742 {source="MONDO:equivalentTo", source="OMIM:170100"}
xref: SCTID:410055005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120647"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0019052 {source="MESH:D056732/inferred", source="MONDO:Redundant", source="NCIT:C85029", source="Orphanet:742/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019232 {source="Orphanet:742", source="PMID:33340416"} ! inborn disorder of peptide metabolism
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:742", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:742", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic lymphedema
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8840 {source="MONDO:mim2gene_medgen"} ! PEPD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0008222
name: Andersen-Tawil syndrome
def: "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." [Orphanet:37553]
subset: gard_rare {source="GARD:9453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1883"}
subset: ordo_disorder {source="Orphanet:37553"}
subset: orphanet_rare {source="Orphanet:37553"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT [DOID:0050434, Orphanet:37553]
synonym: "Andersen syndrome" EXACT [DOID:0050434, OMIM:170390, Orphanet:37553]
synonym: "Andersen-Tawil syndrome" EXACT [OMIM:170390, Orphanet:37553]
synonym: "ATS" BROAD ABBREVIATION [DOID:0050434]
synonym: "cardiodysrhythmic potassium-sensitive periodic paralysis" RELATED [Orphanet:37553]
synonym: "long QT syndrome 7" EXACT [DOID:0050434, OMIM:170390]
synonym: "long QT syndrome type 7" EXACT [Orphanet:37553]
synonym: "LQT7" EXACT ABBREVIATION [DOID:0050434, Orphanet:37553]
synonym: "periodic paralysis, Potassium-sensitive cardiodysrhythmic type" RELATED [OMIM:170390]
synonym: "Potassium-sensitive cardiodysrhythmic type" EXACT [DOID:0050434]
synonym: "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" RELATED [GARD:0009453]
xref: DOID:0050434 {source="MONDO:equivalentTo"}
xref: GARD:9453 {source="MONDO:GARD"}
xref: ICD10CM:G72.3 {source="Orphanet:37553", source="Orphanet:37553/attributed", source="Orphanet:37553/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:327586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050030 {source="DOID:0050434", source="MONDO:equivalentTo"}
xref: NANDO:1200827 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84559 {source="DOID:0050434", source="MONDO:equivalentTo"}
xref: NORD:1883 {source="MONDO:NORD"}
xref: OMIM:170390 {source="Orphanet:37553/e", source="DOID:0050434", source="MONDO:equivalentTo", source="Orphanet:37553"}
xref: Orphanet:37553 {source="DOID:0050434", source="MONDO:equivalentTo", source="OMIM:170390"}
xref: SCTID:422348008 {source="DOID:0050434", source="MONDO:equivalentTo"}
xref: UMLS:C1563715 {source="MEDGEN:327586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:0008222/inferred", source="MONDO:Redundant", source="NCIT:C84559"} ! syndromic disease
is_a: MONDO:0002442 {source="DC-OMIM:170390", source="DOID:0050434", source="MESH:D050030", source="OMIM:170390"} ! long QT syndrome
is_a: MONDO:0016122 {source="Orphanet:37553"} ! periodic paralysis
is_a: MONDO:0019119 {source="Orphanet:37553"} ! muscular channelopathy
relationship: disease_has_feature HP:0000347 ! Micrognathia
relationship: disease_has_feature HP:0004308 ! Ventricular arrhythmia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 {source="MONDO:mim2gene_medgen"} ! KCNJ2

[Term]
id: MONDO:0008223
name: hypokalemic periodic paralysis
def: "Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." [Orphanet:681]
subset: gard_rare {source="GARD:6729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:681"}
subset: orphanet_rare {source="Orphanet:681"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hypokalemic periodic paralysis" EXACT [DOID:14452]
synonym: "familial periodic paralysis" RELATED EXCLUDE [DOID:14452]
synonym: "familial periodic paralysis (& [hypokalaemic])" EXACT [DOID:14452]
synonym: "HKPP" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "HOKPP" EXACT ABBREVIATION [GARD:0006729]
synonym: "hypokalemic familial periodic paralysis" EXACT [DOID:14452]
synonym: "hypokalemic periodic paralysis" EXACT [OMIM:170400]
synonym: "HypoPP" EXACT [GARD:0006729]
synonym: "periodic hypokalemic paralysis" EXACT [DOID:14452]
synonym: "periodic paralysis I" NARROW [DOID:14452]
synonym: "Westphall disease" EXACT [Orphanet:681]
xref: DOID:14452 {source="MONDO:equivalentTo"}
xref: GARD:6729 {source="MONDO:GARD"}
xref: ICD10CM:G72.3 {source="DOID:14452", source="Orphanet:681/inclusion", source="Orphanet:681", source="Orphanet:681/ntbt"}
xref: icd11.foundation:1494773635 {source="MONDO:equivalentTo", source="Orphanet:681", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:116058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020514 {source="Orphanet:681/e", source="MONDO:equivalentTo", source="DOID:14452", source="Orphanet:681"}
xref: NANDO:1200503 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84775 {source="MONDO:equivalentTo", source="DOID:14452"}
xref: Orphanet:681 {source="MONDO:equivalentTo"}
xref: SCTID:193241004 {source="DOID:14452"}
xref: SCTID:240093008 {source="DOID:14452"}
xref: SCTID:82732003 {source="MONDO:equivalentTo", source="DOID:14452"}
xref: UMLS:C0238358 {source="MEDGEN:116058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000995 {source="DOID:14452", source="MESH:D020514", source="Orphanet:681"} ! familial periodic paralysis
is_a: MONDO:0016122 {source="MONDO:Redundant", source="Orphanet:681"} ! periodic paralysis
intersection_of: MONDO:0000995 ! familial periodic paralysis
intersection_of: disease_has_feature HP:0002900 ! Hypokalemia
disjoint_from: MONDO:0008224 ! hyperkalemic periodic paralysis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis" xsd:anyURI {source="GARD:0006729"}

[Term]
id: MONDO:0008224
name: hyperkalemic periodic paralysis
def: "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." [Orphanet:682]
subset: gard_rare {source="GARD:195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:682"}
subset: orphanet_rare {source="Orphanet:682"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adynamia episodica hereditaria" EXACT [Orphanet:682]
synonym: "adynamia episodica hereditaria with or without myotonia" EXACT [GARD:0000195, OMIM:170500]
synonym: "familial hyperkalemic periodic paralysis" EXACT [Orphanet:682]
synonym: "familial hyperkalemic periodic paralysis (disorder) [ambiguous]" EXACT [DOID:14451]
synonym: "familial hyperPP" EXACT [Orphanet:682]
synonym: "Gamstorp disease" EXACT [Orphanet:682]
synonym: "Gamstorp episodic adynamy" EXACT [GARD:0000195, Orphanet:682]
synonym: "hyperkalemic periodic paralysis" EXACT [MONDO:Lexical, OMIM:170500]
synonym: "hyperkalemic periodic paralysis, type 2" EXACT [OMIM:170500, OMIM:genemap2]
synonym: "hyperkalemic PP" EXACT [Orphanet:682]
synonym: "hyperKPP" EXACT [Orphanet:682]
synonym: "hyperPP" EXACT [Orphanet:682]
synonym: "HYPP" EXACT ABBREVIATION [GARD:0000195, MONDO:Lexical, OMIM:170500, Orphanet:682]
synonym: "normokalemic periodic paralysis, potassium-sensitive" EXACT [OMIM:170500]
synonym: "primary hyperkalemic periodic paralysis" EXACT [Orphanet:682]
synonym: "primary hyperPP" EXACT [Orphanet:682]
synonym: "sodium channel muscle disease" RELATED [GARD:0000195]
xref: DOID:14451 {source="MONDO:equivalentTo"}
xref: GARD:195 {source="MONDO:GARD"}
xref: ICD10CM:G72.3 {source="Orphanet:682/inclusion", source="Orphanet:682/ntbt", source="DOID:14451", source="Orphanet:682"}
xref: icd11.foundation:1308452752 {source="MONDO:equivalentTo", source="Orphanet:682", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:68665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535409 {source="Orphanet:682/e", source="Orphanet:682"}
xref: MESH:D020513 {source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682"}
xref: NANDO:1200504 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123429 {source="MONDO:equivalentTo", source="DOID:14451"}
xref: OMIM:170500 {source="Orphanet:682/e", source="MONDO:equivalentTo", source="DOID:14451", source="Orphanet:682", source="GARD:0000195"}
xref: Orphanet:682 {source="OMIM:170500", source="MONDO:equivalentTo", source="GARD:0000195"}
xref: SCTID:15973007 {source="DOID:14451"}
xref: SCTID:278513006 {source="DOID:14451"}
xref: SCTID:304737009 {source="MONDO:equivalentTo", source="DOID:14451"}
xref: UMLS:C0238357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68665"}
is_a: MONDO:0000995 ! familial periodic paralysis
is_a: MONDO:0800468 {source="PMID:32849172", source="https://clinicalgenome.org/affiliation/40060/"} ! SCN4A-related channelopathy
intersection_of: MONDO:0000995 ! familial periodic paralysis
intersection_of: disease_has_feature HP:0002153 ! Hyperkalemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="MONDO:mim2gene_medgen"} ! SCN4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0008225
name: normokalemic periodic paralysis
comment: Editor note: NCIT says SNC4A, check this
subset: gard_rare {source="GARD:4009", source="MONDO:GARD"}
subset: rare
synonym: "normokalemic periodic paralysis" EXACT [OMIM:170600]
synonym: "normokalemic PP" EXACT [GARD:0004009]
synonym: "NormoKPP" EXACT [NCIT:C122791]
synonym: "periodic paralysis type 3" RELATED [GARD:0004009]
synonym: "potassium-sensitive normokalemic periodic paralysis" RELATED [GARD:0004009]
xref: GARD:4009 {source="MONDO:GARD"}
xref: MEDGEN:78678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122791 {source="MONDO:equivalentTo"}
xref: OMIM:170600 {source="MONDO:equivalentTo"}
xref: Orphanet:680 {source="OMIM:170600", source="MONDO:equivalentObsolete"}
xref: SCTID:40381009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78678"}
is_a: MONDO:0000995 {source="https://orcid.org/0000-0002-6601-2165"} ! familial periodic paralysis

[Term]
id: MONDO:0008226
name: periodontitis, aggressive 1
def: "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people." [EFO:0006342]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile periodontitis" EXACT [DOID:1474]
synonym: "periodontitis 1, juvenile" EXACT [OMIM:170650, OMIM:genemap2]
synonym: "periodontitis, aggressive, 1" RELATED [OMIM:170650]
synonym: "periodontitis, aggressive, type 1" EXACT [MONDORULE:1, OMIM:170650]
synonym: "periodontitis, juvenile" RELATED [OMIM:170650]
synonym: "periodontitis, prepubertal" RELATED [OMIM:170650]
xref: DOID:1474 {source="MONDO:equivalentTo", source="EFO:0006342"}
xref: EFO:0006342 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K05.2 {source="DOID:1474"}
xref: ICD9:523.5 {source="EFO:0006342"}
xref: MEDGEN:1644602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010520 {source="DOID:1474", source="MONDO:equivalentTo", source="EFO:0006342"}
xref: OMIM:170650 {source="DOID:1474", source="MONDO:equivalentTo"}
xref: SCTID:2624008 {source="DOID:1474"}
xref: SCTID:449908004 {source="DOID:1474", source="EFO:0006342"}
xref: SCTID:49965002 {source="DOID:1474"}
xref: UMLS:C4551681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644602"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005593 {source="OMIM:170650"} ! chronic periodontitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="MONDO:mim2gene_medgen"} ! CTSC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008227
name: peripheral dysostosis
subset: gard_rare {source="GARD:2015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:1795"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysostosis peripheral" RELATED [GARD:0002015]
synonym: "peripheral dysostosis" EXACT [OMIM:170700]
xref: GARD:2015 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:1795/attributed", source="Orphanet:1795/ntbt", source="Orphanet:1795"}
xref: MEDGEN:1648357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:170700 {source="Orphanet:1795", source="MONDO:equivalentTo", source="Orphanet:1795/e"}
xref: Orphanet:1795 {source="OMIM:170700", source="MONDO:equivalentTo"}
xref: UMLS:C4721502 {source="MEDGEN:1648357", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019695 {source="Orphanet:1795"} ! acromelic dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2015/dysostosis-peripheral" xsd:anyURI {source="GARD:0002015"}

[Term]
id: MONDO:0008228
name: pernicious anemia
def: "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells." [NCIT:P378]
subset: gard_rare {source="GARD:12671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired pernicious anaemia" EXACT OMO:0003005 []
synonym: "acquired pernicious anemia" EXACT [Orphanet:120]
synonym: "Addison anaemia" EXACT OMO:0003005 []
synonym: "Addison anemia" EXACT []
synonym: "Addison's anaemia" EXACT OMO:0003005 []
synonym: "Addison's anemia" EXACT [DOID:13381]
synonym: "Addison-Biermer anaemia" EXACT OMO:0003005 []
synonym: "Addison-Biermer anemia" EXACT [Orphanet:120]
synonym: "anaemia pernicious" EXACT OMO:0003005 []
synonym: "anemia pernicious" EXACT [DOID:13381, MTH:NOCODE]
synonym: "Biermer anaemia" EXACT OMO:0003005 []
synonym: "Biermer anemia" EXACT [Orphanet:120]
synonym: "Biermer disease" EXACT [Orphanet:120]
synonym: "Biermer's anaemia" EXACT OMO:0003005 []
synonym: "Biermer's anemia" EXACT [DOID:13381]
synonym: "intrinsic factor deficiency" EXACT [NCIT:C2871]
synonym: "juvenile onset pernicious anaemia" EXACT OMO:0003005 []
synonym: "juvenile onset pernicious anemia" EXACT [Orphanet:120]
synonym: "pernicious anemia" EXACT [OMIM:170900]
xref: DOID:13381 {source="EFO:0005576", source="MONDO:equivalentTo"}
xref: EFO:0005576 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12671 {source="MONDO:GARD"}
xref: ICD10CM:D51.0 {source="DOID:13381"}
xref: ICD9:281.0 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000752 {source="DOID:13381", source="MONDO:equivalentTo"}
xref: NCIT:C2871 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo"}
xref: OMIM:170900 {source="DOID:13381", source="MONDO:equivalentTo"}
xref: Orphanet:120 {source="MONDO:equivalentObsolete", source="OMIM:170900"}
xref: SCTID:154789008 {source="DOID:13381"}
xref: SCTID:191139001 {source="DOID:13381"}
xref: SCTID:84027009 {source="EFO:0005576", source="DOID:13381", source="MONDO:equivalentTo"}
xref: UMLS:C0002892 {source="MEDGEN:1531", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001700 {source="NCIT:C2871"} ! megaloblastic anemia
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0006873 {source="DOID:13381", source="MESH:D000752/inferred"} ! nutritional deficiency disease

[Term]
id: MONDO:0008229
name: peroneal nerve, accessory deep
synonym: "accessory deep peroneal nerve" RELATED [GARD:0008546]
synonym: "peroneal nerve, accessory deep" EXACT [OMIM:170980]
xref: MEDGEN:358317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536001 {source="MONDO:equivalentTo"}
xref: OMIM:170980 {source="MONDO:equivalentTo"}
xref: UMLS:C1868426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358317"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8546/accessory-deep-peroneal-nerve" xsd:anyURI {source="GARD:0008546"}

[Term]
id: MONDO:0008230
name: peroxidase, salivary
synonym: "peroxidase, salivary" EXACT [MONDO:Lexical, OMIM:170990]
synonym: "SAPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:170990]
xref: MEDGEN:401440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:170990 {source="MONDO:equivalentTo"}
xref: UMLS:C1868425 {source="MEDGEN:401440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008231
name: Peyronie disease
def: "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." [MESH:D010411]
synonym: "Induratio penis plastica" EXACT [DOID:8616, Orphanet:2870]
synonym: "penile fibromatosis" EXACT [MONDO:0006361, NCIT:C3316]
synonym: "penile induration" EXACT [NCIT:C3316]
synonym: "penis fibromatosis" EXACT [MONDO:patterns/location]
synonym: "Peyronie disease" EXACT [DOID:8616, MTH:NOCODE, OMIM:171000]
synonym: "Peyronie's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C3316]
synonym: "Peyronie's fibromatosis" EXACT [DOID:8616, NCIT:C3316]
xref: DOID:8616 {source="MONDO:equivalentTo"}
xref: ICD10CM:N48.6 {source="DOID:8616"}
xref: ICD9:607.85 {source="DOID:8616"}
xref: MEDGEN:10629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010411 {source="DOID:8616"}
xref: NCIT:C3316 {source="MONDO:equivalentTo", source="DOID:8616", source="EFO:1000466"}
xref: OMIM:171000 {source="MONDO:equivalentTo", source="DOID:8616"}
xref: Orphanet:2870 {source="MONDO:equivalentObsolete"}
xref: SCTID:1335005 {source="DOID:8616"}
xref: SCTID:155931002 {source="DOID:8616"}
xref: SCTID:198028006 {source="DOID:8616"}
xref: UMLS:C0030848 {source="MEDGEN:10629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002036 {source="DOID:8616"} ! penile disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005031 {source="EFO:1000466", source="MONDO:Redundant", source="NCIT:C3316/inferred"} ! fibromatosis
is_a: MONDO:0016037 {source="NCIT:C3316"} ! superficial Fibromatosis
intersection_of: MONDO:0005031 ! fibromatosis
intersection_of: disease_has_location UBERON:0000989 ! penis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7142" xsd:anyURI

[Term]
id: MONDO:0008232
name: phagocytosis, plasma-related defect 1N
synonym: "phagocytosis, plasma-RELATED defect IN" RELATED [OMIM:171100]
synonym: "phagocytosis, plasma-related defect type 1N" EXACT [MONDORULE:4, OMIM:171100]
xref: MEDGEN:356965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566808 {source="MONDO:equivalentTo"}
xref: OMIM:171100 {source="MONDO:equivalentTo"}
xref: UMLS:C1868402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356965"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_disrupts GO:0006909 ! phagocytosis

[Term]
id: MONDO:0008233
name: pheochromocytoma
subset: gard_rare {source="GARD:15105", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "phaeochromocytoma" EXACT CLINGEN_LABEL [DOID:0050771]
synonym: "pheochromocytoma" EXACT [OMIM:171300]
synonym: "pheochromocytoma, susceptibility to" RELATED [OMIM:171300]
xref: DOID:0050771 {source="MONDO:equivalentTo"}
xref: GARD:15105 {source="MONDO:GARD"}
xref: MEDGEN:18419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010673 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C3326 {source="ONCOTREE:PHC"}
xref: OMIM:171300 {source="DOID:0050771", source="MONDO:equivalentTo"}
xref: ONCOTREE:PHC {source="MONDO:equivalentTo"}
xref: Orphanet:29072 {source="OMIM:171300"}
xref: UMLS:C0031511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18419"}
is_a: MONDO:0005165 {source="DOID:0050771", source="DOID:0050771/inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma

[Term]
id: MONDO:0008234
name: multiple endocrine neoplasia type 2A
def: "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells." [Orphanet:247698]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247698"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEA type 2a" EXACT [NCIT:C3226]
synonym: "MEA type II" EXACT [NCIT:C3226]
synonym: "men 2A" EXACT [NCIT:C3226]
synonym: "men type 2a" EXACT [NCIT:C3226]
synonym: "men type II" EXACT [NCIT:C3226]
synonym: "men-2A syndrome" RELATED [GARD:0004881]
synonym: "MEN2A" EXACT ABBREVIATION [DOID:0050430, MONDO:Lexical, OMIM:171400, Orphanet:247698]
synonym: "multiple endocrine adenomatosis type 2A" EXACT [NCIT:C3226]
synonym: "multiple endocrine adenomatosis type 2a" EXACT [NCIT:C3226]
synonym: "multiple endocrine adenomatosis type II" EXACT [NCIT:C3226]
synonym: "multiple endocrine adenomatosis, type II" EXACT [NCIT:C3226]
synonym: "multiple endocrine neoplasia II" EXACT [DOID:0050430]
synonym: "multiple endocrine neoplasia IIA" EXACT [OMIM:171400, OMIM:genemap2]
synonym: "multiple endocrine neoplasia type 2A" EXACT CLINGEN_LABEL [NCIT:C3226]
synonym: "multiple endocrine neoplasia type II" EXACT [NCIT:C3226]
synonym: "multiple endocrine neoplasia, type 2A" RELATED [OMIM:171400]
synonym: "multiple endocrine neoplasia, type II" EXACT [NCIT:C3226]
synonym: "multiple endocrine neoplasia, type IIA" RELATED [MONDO:Lexical, OMIM:171400]
synonym: "pheochromocytoma and amyloid producing medullary thyroid carcinoma" RELATED [GARD:0004881]
synonym: "pheochromocytoma and amyloid-producing medullary thyroid carcinoma" RELATED [OMIM:171400]
synonym: "ptc syndrome" EXACT [OMIM:171400, Orphanet:247698]
synonym: "Sipple syndrome" EXACT [DOID:0050430, OMIM:171400, Orphanet:247698]
synonym: "thyroid carcinoma, familial medullary" RELATED [OMIM:171400]
xref: DOID:0050430 {source="MONDO:equivalentTo"}
xref: GARD:4881 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="Orphanet:247698/attributed", source="Orphanet:247698/ntbt", source="Orphanet:247698"}
xref: ICD10CM:E31.22 {source="DOID:0050430"}
xref: ICD9:258.02 {source="DOID:0050430"}
xref: MEDGEN:9958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018813 {source="DOID:0050430", source="Orphanet:247698", source="MONDO:equivalentTo", source="Orphanet:247698/e"}
xref: NANDO:2200406 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201052 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3226 {source="DOID:0050430", source="MONDO:equivalentTo"}
xref: OMIM:171400 {source="DOID:0050430", source="Orphanet:247698", source="MONDO:equivalentTo", source="Orphanet:247698/e"}
xref: Orphanet:247698 {source="DOID:0050430", source="OMIM:171400", source="MONDO:equivalentTo"}
xref: Orphanet:653 {source="OMIM:171400"}
xref: SCTID:61808009 {source="DOID:0050430"}
xref: SCTID:721188000 {source="MONDO:equivalentTo"}
xref: UMLS:C0025268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9958"}
is_a: MONDO:0000426 {source="DOID:0050430", source="MONDO:indirect"} ! autosomal dominant disease
is_a: MONDO:0017169 {source="MONDO:Redundant", source="NCIT:C3226/inferred", source="OMIM:171400", source="Orphanet:247698/inferred"} ! multiple endocrine neoplasia
is_a: MONDO:0019003 {source="NCIT:C3226", source="Orphanet:247698"} ! multiple endocrine neoplasia type 2
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:171400", source="Orphanet:247698"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 {source="MONDO:mim2gene_medgen"} ! RET
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a" xsd:anyURI {source="GARD:0004881"}

[Term]
id: MONDO:0008235
name: pheochromocytoma-islet cell tumor syndrome
synonym: "pheochromocytoma and islet cell tumor of the pancreas" RELATED [GARD:0004321]
synonym: "pheochromocytoma and islet cell tumour of the pancreas" RELATED OMO:0003005 []
synonym: "pheochromocytoma--islet cell tumor syndrome" EXACT [OMIM:171420]
synonym: "pheochromocytoma--islet cell tumour syndrome" EXACT OMO:0003005 []
synonym: "pheochromocytoma-islet cell tumor syndrome" EXACT [GARD:0004321]
xref: MEDGEN:401431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566807 {source="MONDO:equivalentTo"}
xref: OMIM:171420 {source="MONDO:equivalentTo"}
xref: UMLS:C1868392 {source="MEDGEN:401431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4321/pheochromocytoma-islet-cell-tumor-syndrome" xsd:anyURI {source="GARD:0004321"}

[Term]
id: MONDO:0008236
name: phlebectasia of lips
synonym: "phlebectasia of lips" EXACT [OMIM:171450]
xref: MEDGEN:356962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566806 {source="MONDO:equivalentTo"}
xref: OMIM:171450 {source="MONDO:equivalentTo"}
xref: UMLS:C1868391 {source="MONDO:equivalentTo", source="MEDGEN:356962", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008237
name: phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
def: "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." [Orphanet:2878]
subset: gard_rare {source="GARD:4323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:2878"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facioauriculoradial dysplasia" RELATED [OMIM:171480]
synonym: "phocomelia ectrodactyly deafness sinus arrhythmia" RELATED [GARD:0004323]
synonym: "phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia" RELATED [OMIM:171480]
synonym: "Stoll-LC)vy-Francfort syndrome" EXACT [Orphanet:2878]
synonym: "Stoll-levy-Francfort syndrome" RELATED [GARD:0004323]
synonym: "Stoll-Lévy-Francfort syndrome" EXACT [Orphanet:2878]
xref: GARD:4323 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2878", source="Orphanet:2878/attributed", source="Orphanet:2878/ntbt"}
xref: MEDGEN:356961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537498 {source="MONDO:equivalentTo"}
xref: OMIM:171480 {source="MONDO:equivalentTo", source="Orphanet:2878", source="Orphanet:2878/e"}
xref: Orphanet:2878 {source="MONDO:equivalentTo", source="OMIM:171480"}
xref: UMLS:C1868390 {source="MEDGEN:356961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008238
name: phosphatase, acid, of tissues
synonym: "Acp3--Alpha polypeptide" RELATED [OMIM:171660]
synonym: "lysosomal acid phosphatase" RELATED [OMIM:171660]
synonym: "phosphatase, acid, of tissues" EXACT [OMIM:171660]
xref: MEDGEN:361808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:171660 {source="MONDO:equivalentTo"}
xref: UMLS:C1876163 {source="MEDGEN:361808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008239
name: phosphoglucomutase 4
synonym: "milk PGM" RELATED [OMIM:172110]
synonym: "Pgm4" RELATED [OMIM:172110]
synonym: "phosphoglucomutase 4" EXACT [OMIM:172110]
synonym: "phosphoglucomutase type 4" EXACT [MONDORULE:1, OMIM:172110]
xref: MEDGEN:358301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:172110 {source="MONDO:equivalentTo"}
xref: UMLS:C1868356 {source="MEDGEN:358301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008240
name: 6-phosphogluconolactonase deficiency
synonym: "6-phosphogluconolactonase deficiency" EXACT [OMIM:172150]
synonym: "6Pgl deficiency" RELATED [OMIM:172150]
synonym: "Pgls deficiency" RELATED [OMIM:172150]
xref: MEDGEN:358188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566803 {source="MONDO:equivalentTo"}
xref: OMIM:172150 {source="MONDO:equivalentTo"}
xref: UMLS:C1868355 {source="MEDGEN:358188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566803/inferred"} ! hereditary disease

[Term]
id: MONDO:0008241
name: phosphoglycoprotein 1
synonym: "PGP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172290]
synonym: "phosphoglycoprotein 1" EXACT [MONDO:Lexical, OMIM:172290]
synonym: "phosphoglycoprotein type 1" EXACT [MONDORULE:1, OMIM:172290]
xref: MEDGEN:401424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:172290 {source="MONDO:equivalentTo"}
xref: UMLS:C1868352 {source="MONDO:equivalentTo", source="MEDGEN:401424", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008242
name: photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
synonym: "hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" RELATED [GARD:0009267]
synonym: "Herrmann syndrome" RELATED [OMIM:172500]
synonym: "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" EXACT [OMIM:172500]
xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:315660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538113 {source="MONDO:equivalentTo"}
xref: OMIM:172500 {source="MONDO:equivalentTo"}
xref: SCTID:237612000 {source="MONDO:equivalentTo"}
xref: UMLS:C1809475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:315660"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008243
name: Pick disease
def: "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dementia in Pick's disease" EXACT [DOID:11870]
synonym: "dementia with lobar atrophy and neuronal cytoplasmic inclusions" RELATED [OMIM:172700]
synonym: "lobar atrophy of brain" EXACT [DOID:11870, OMIM:172700]
synonym: "lobar atrophy of the brain" RELATED [GARD:0007392]
synonym: "Pick disease" EXACT [DOID:11870]
synonym: "PICK disease of brain" EXACT [DOID:11870, OMIM:172700]
synonym: "Pick disease of the brain" RELATED [GARD:0007392]
synonym: "Pick's disease" RELATED [DOID:11870]
xref: DOID:11870 {source="MONDO:equivalentTo", source="EFO:0003096"}
xref: EFO:0003096 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G31.01 {source="MONDO:equivalentTo", source="DOID:11870"}
xref: ICD9:331.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003096", source="DOID:11870"}
xref: MEDGEN:116020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020774 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"}
xref: NCIT:C85008 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"}
xref: OMIM:172700 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"}
xref: Orphanet:282 {source="OMIM:172700"}
xref: SCTID:13092008 {source="MONDO:equivalentTo", source="EFO:0003096", source="DOID:11870"}
xref: SCTID:154998003 {source="DOID:11870"}
xref: SCTID:267688001 {source="DOID:11870"}
xref: UMLS:C0236642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116020"}
is_a: MONDO:0005559 {source="DOID:11870", source="EFO:0003096/inferred", source="MESH:D020774/inferred", source="MONDO:Redundant", source="NCIT:C85008"} ! neurodegenerative disease
is_a: MONDO:0017276 {source="MESH:D020774", source="Orphanet:282/btnt"} ! frontotemporal dementia
is_a: MONDO:0024238 {source="MONDO:Redundant"} ! cerebral degeneration
relationship: disease_has_location UBERON:0001870 {source="EFO:0000784"} ! frontal cortex
relationship: disease_has_location UBERON:0001871 {source="EFO:0000784"} ! temporal lobe

[Term]
id: MONDO:0008244
name: piebaldism
def: "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." [Orphanet:2884]
subset: gard_rare {source="GARD:4344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2884"}
subset: orphanet_rare {source="Orphanet:2884"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "partial albinism" EXACT [DOID:3263]
synonym: "PBT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172800]
synonym: "piebald trait" EXACT [DOID:3263, MONDO:Lexical, OMIM:172800]
synonym: "piebaldism" EXACT [OMIM:172800]
xref: DOID:3263 {source="MONDO:equivalentTo"}
xref: GARD:4344 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:2884/ntbt", source="MONDO:relatedTo", source="Orphanet:2884", source="Orphanet:2884/index"}
xref: ICD10CM:E70.39 {source="DOID:3263"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:36361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016116 {source="Orphanet:2884", source="MONDO:equivalentTo", source="Orphanet:2884/e", source="DOID:3263"}
xref: NCIT:C85009 {source="MONDO:equivalentTo", source="DOID:3263"}
xref: OMIM:172800 {source="Orphanet:2884", source="MONDO:equivalentTo", source="Orphanet:2884/e", source="DOID:3263"}
xref: Orphanet:2884 {source="OMIM:172800", source="MONDO:equivalentTo"}
xref: SCTID:6479008 {source="MONDO:equivalentTo", source="DOID:3263"}
xref: UMLS:C0080024 {source="MEDGEN:36361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:3263", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019290 {source="MESH:D016116/inferred", source="Orphanet:2884"} ! hypopigmentation of the skin
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: disease_has_feature HP:0002226 ! White eyebrow
relationship: disease_has_feature HP:0002227 ! White eyelashes
relationship: excluded_subClassOf MONDO:0020191 {source="Orphanet:2884", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes pigmentation anomaly
relationship: excluded_subClassOf MONDO:0043209 {source="https://orcid.org/0000-0001-5208-3432"} ! albinism
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:172800", source="Orphanet:2884", source="https://ghr.nlm.nih.gov/condition/piebaldism#inheritance"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4344/piebaldism" xsd:anyURI {source="GARD:0004344"}

[Term]
id: MONDO:0008245
name: piebald trait-neurologic defects syndrome
def: "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971." [Orphanet:2885]
subset: gard_rare {source="GARD:5133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2885"}
subset: ordo_malformation_syndrome {source="Orphanet:2885"}
subset: orphanet_rare {source="Orphanet:2885"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "piebald trait neurologic defects" RELATED [GARD:0005133]
synonym: "piebald trait with neurologic defects" RELATED [OMIM:172850]
synonym: "telfer Sugar Jaeger syndrome" RELATED [GARD:0005133]
synonym: "telfer-Sugar-Jaeger syndrome" EXACT [Orphanet:2885]
synonym: "White forelock and leukoderma with neurological impairment" RELATED [GARD:0005133]
xref: GARD:5133 {source="MONDO:GARD"}
xref: MEDGEN:358177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536955 {source="MONDO:equivalentTo"}
xref: OMIM:172850 {source="Orphanet:2885", source="MONDO:equivalentTo", source="Orphanet:2885/e"}
xref: Orphanet:2885 {source="MONDO:equivalentTo", source="OMIM:172850"}
xref: UMLS:C1868311 {source="MEDGEN:358177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019290 {source="MESH:C536955/inferred", source="Orphanet:2885"} ! hypopigmentation of the skin

[Term]
id: MONDO:0008246
name: pigmented paravenous retinochoroidal atrophy
def: "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." [Orphanet:251295]
subset: gard_rare {source="GARD:17208", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251295"}
subset: orphanet_rare {source="Orphanet:251295"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pigmented paravenous chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:172870]
synonym: "PPCRA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172870]
synonym: "PPRCA" EXACT ABBREVIATION [Orphanet:251295]
xref: DOID:0111541 {source="MONDO:equivalentTo"}
xref: GARD:17208 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:251295/attributed", source="Orphanet:251295/ntbt", source="Orphanet:251295", source="MONDO:directSiblingOf"}
xref: MEDGEN:401413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566801 {source="MONDO:equivalentTo"}
xref: OMIM:172870 {source="Orphanet:251295", source="MONDO:equivalentTo", source="Orphanet:251295/e"}
xref: Orphanet:251295 {source="MONDO:equivalentTo", source="OMIM:172870"}
xref: SCTID:723450004 {source="MONDO:equivalentTo"}
xref: UMLS:C1868310 {source="MONDO:equivalentTo", source="MEDGEN:401413", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="Orphanet:251295"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 {source="MONDO:mim2gene_medgen"} ! CRB1

[Term]
id: MONDO:0008247
name: Robin sequence-oligodactyly syndrome
def: "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." [Orphanet:3104]
subset: gard_rare {source="GARD:4729", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3104"}
subset: ordo_malformation_syndrome {source="Orphanet:3104"}
subset: orphanet_rare {source="Orphanet:3104"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pierre Robin sequence-oligodactyly syndrome" EXACT [Orphanet:3104]
synonym: "Pierre Robin syndrome and oligodactyly" RELATED [OMIM:172880]
synonym: "Robin sequence and oligodactyly" RELATED [OMIM:172880]
xref: GARD:4729 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3104/attributed", source="Orphanet:3104/ntbt", source="Orphanet:3104"}
xref: MEDGEN:358176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535688 {source="Orphanet:3104", source="MONDO:equivalentTo", source="Orphanet:3104/e"}
xref: OMIM:172880 {source="Orphanet:3104", source="MONDO:equivalentTo", source="Orphanet:3104/e"}
xref: Orphanet:3104 {source="MONDO:equivalentTo", source="OMIM:172880"}
xref: UMLS:C1868309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358176"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature HP:0000201 ! Pierre-Robin sequence

[Term]
id: MONDO:0008248
name: pigmented purpuric eruption
subset: otar {source="MONDO:OTAR"}
synonym: "familial pigmented purpuric eruption" RELATED [GARD:0007609]
synonym: "pigmented purpura" RELATED [GARD:0007609]
synonym: "pigmented purpuric dermatosis" RELATED [GARD:0007609]
synonym: "pigmented purpuric eruption" EXACT [OMIM:172900]
synonym: "progressive pigmented purpura" RELATED [GARD:0007609]
synonym: "Schamberg disease" RELATED [GARD:0007609]
synonym: "Schamberg purpura" RELATED [GARD:0007609]
xref: MEDGEN:96058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537186 {source="MONDO:equivalentTo"}
xref: OMIM:172900 {source="MONDO:equivalentTo"}
xref: SCTID:20343006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96058"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008249
name: pilonidal sinus
def: "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region." [MESH:D010864]
synonym: "pilonidal sinus" EXACT [MONDO:ambiguous, OMIM:173000]
synonym: "pilonidal sinus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0010769 {source="MONDO:otherHierarchy"}
xref: MEDGEN:19314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010864 {source="MONDO:equivalentTo"}
xref: OMIM:173000 {source="MONDO:equivalentTo"}
xref: SCTID:47639008 {source="MONDO:equivalentTo"}
xref: UMLS:C0031925 {source="MEDGEN:19314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "pilonidal sinus (disease)" xsd:string

[Term]
id: MONDO:0008250
name: isolated growth hormone deficiency type II
subset: gard_rare {source="GARD:1696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231679"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant isolated growth hormone deficiency" EXACT [DOID:0060872]
synonym: "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency" EXACT [DOID:0060872]
synonym: "congenital IGHD type II" EXACT [DOID:0060872, Orphanet:231679]
synonym: "congenital isolated GH deficiency type II" EXACT [DOID:0060872, Orphanet:231679]
synonym: "congenital isolated growth hormone deficiency type II" EXACT [DOID:0060872, Orphanet:231679]
synonym: "Growth hormone deficiency, isolated autosomal dominant" RELATED [GARD:0001696]
synonym: "Growth hormone deficiency, isolated, autosomal dominant" RELATED [OMIM:173100]
synonym: "growth hormone deficiency, isolated, type II" EXACT [OMIM:173100, OMIM:genemap2]
synonym: "IGHD 2" RELATED [OMIM:173100]
synonym: "IGHD II" EXACT [DOID:0060872]
synonym: "IGHD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:173100]
synonym: "isolated growth hormone deficiency type 2" RELATED [GARD:0001696]
synonym: "isolated Growth hormone deficiency, type 2" RELATED [OMIM:173100]
synonym: "isolated growth hormone deficiency, type II" RELATED [MONDO:Lexical, OMIM:173100]
synonym: "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant" RELATED [GARD:0001696]
synonym: "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" RELATED [OMIM:173100]
xref: DOID:0060872 {source="MONDO:equivalentTo"}
xref: GARD:1696 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="DOID:0060872", source="Orphanet:231679/attributed", source="Orphanet:231679/ntbt", source="Orphanet:231679"}
xref: MEDGEN:124405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562704 {source="MONDO:equivalentTo"}
xref: OMIM:173100 {source="Orphanet:231679/e", source="DOID:0060872", source="MONDO:equivalentTo", source="Orphanet:231679"}
xref: Orphanet:231679 {source="DOID:0060872", source="MONDO:equivalentTo", source="OMIM:173100"}
xref: Orphanet:631 {source="OMIM:173100"}
xref: SCTID:237687003 {source="MONDO:equivalentTo"}
xref: UMLS:C0271567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124405"}
is_a: MONDO:0000050 {source="DC-OMIM:173100", source="DOID:0060872", source="Orphanet:231679"} ! isolated congenital growth hormone deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4261 {source="MONDO:mim2gene_medgen"} ! GH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2" xsd:anyURI {source="GARD:0001696"}

[Term]
id: MONDO:0008251
name: familial pityriasis rubra pilaris
def: "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." [Orphanet:2897]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2897"}
subset: orphanet_rare {source="Orphanet:2897"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Devergie's disease" EXACT [DOID:9212]
synonym: "hereditary pityriasis rubra pilaris" EXACT [MONDO:patterns/hereditary]
synonym: "pityriasis rubra pilaris" BROAD [MONDO:Lexical, OMIM:173200]
synonym: "pityriasis rubra pilaris--familial type" EXACT [MESH:C531784]
synonym: "PRP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:173200]
xref: ICD10CM:L44.0 {source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"}
xref: ICD9:696.4 {source="MONDO:i2s", source="DOID:9212"}
xref: MedDRA:10035116 {source="Orphanet:2897", source="Orphanet:2897/e"}
xref: MEDGEN:443914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531784 {source="MONDO:equivalentTo"}
xref: MESH:D010916 {source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"}
xref: NCIT:C85014 {source="DOID:9212"}
xref: OMIM:173200 {source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"}
xref: Orphanet:2897 {source="MONDO:equivalentTo", source="OMIM:173200"}
xref: SCTID:3755001 {source="DOID:9212"}
xref: UMLS:C2930842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443914"}
is_a: MONDO:0100017 {source="GARD:0007401"} ! pityriasis rubra pilaris
intersection_of: MONDO:0100017 ! pityriasis rubra pilaris
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 ! CARD14
relationship: excluded_subClassOf MONDO:0005083 {source="DOID:9212", source="https://orcid.org/0000-0001-5208-3432"} ! psoriasis
relationship: excluded_subClassOf MONDO:0006547 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! exanthem
relationship: excluded_subClassOf MONDO:0019270 {source="Orphanet:2897", source="https://orcid.org/0000-0001-5208-3432"} ! erythrokeratoderma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 {source="MONDO:mim2gene_medgen"} ! CARD14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3470" xsd:anyURI

[Term]
id: MONDO:0008252
name: platelet adenylate cyclase activity
synonym: "platelet adenylate cyclase activity" EXACT [OMIM:173395]
xref: MEDGEN:358164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:173395 {source="MONDO:equivalentTo"}
xref: UMLS:C1868264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358164"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008253
name: platelet aggregation, spontaneous
synonym: "platelet aggregation, spontaneous" EXACT [OMIM:173400]
xref: MEDGEN:401406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566800 {source="MONDO:equivalentTo"}
xref: OMIM:173400 {source="MONDO:equivalentTo"}
xref: UMLS:C1868263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401406"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008254
name: platelet disorder, undefined
synonym: "platelet disorder, undefined" EXACT [OMIM:173420]
xref: MEDGEN:401405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566799 {source="MONDO:equivalentTo"}
xref: OMIM:173420 {source="MONDO:equivalentTo"}
xref: UMLS:C1868258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401405"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008255
name: platelet factor 3 deficiency
synonym: "platelet factor 3 deficiency" EXACT [OMIM:173450]
xref: MEDGEN:356931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566798 {source="MONDO:equivalentTo"}
xref: OMIM:173450 {source="MONDO:equivalentTo"}
xref: UMLS:C1868256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356931"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008256
name: platelet membrane fluidity
synonym: "platelet membrane fluidity" EXACT [MONDO:Lexical, OMIM:173560]
synonym: "PMF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:173560]
xref: MEDGEN:401393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:173560 {source="MONDO:equivalentTo"}
xref: UMLS:C1868201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401393"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008257
name: platelet responsiveness to adrenaline, depressed
synonym: "platelet responsiveness to adrenaline, depressed" EXACT [OMIM:173580]
xref: MEDGEN:358151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:173580 {source="MONDO:equivalentTo"}
xref: UMLS:C1868200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358151"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008258
name: platelet signal processing defect
synonym: "platelet signal processing defect" EXACT [OMIM:173590]
xref: MEDGEN:357448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566796 {source="MONDO:equivalentTo"}
xref: OMIM:173590 {source="MONDO:equivalentTo"}
xref: UMLS:C1868199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357448"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008259
name: familial spontaneous pneumothorax
def: "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." [Orphanet:2903]
subset: gard_rare {source="GARD:4997", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2903"}
subset: orphanet_rare {source="Orphanet:2903"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pneumothorax, primary spontaneous" RELATED [OMIM:173600]
synonym: "primary spontaneous pneumothorax" RELATED [DOID:0080218, GARD:0004997]
synonym: "Psp" RELATED [OMIM:173600]
synonym: "spontaneous pneumothorax" RELATED [GARD:0004997]
xref: DOID:0080218 {source="MONDO:equivalentTo"}
xref: GARD:4997 {source="MONDO:GARD"}
xref: ICD10CM:J93.1 {source="Orphanet:2903/attributed", source="Orphanet:2903/ntbt", source="Orphanet:2903"}
xref: MEDGEN:357445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566795 {source="MONDO:equivalentTo"}
xref: OMIM:173600 {source="Orphanet:2903/e", source="MONDO:equivalentTo", source="DOID:0080218", source="Orphanet:2903"}
xref: Orphanet:2903 {source="OMIM:173600", source="MONDO:equivalentTo"}
xref: SCTID:715219001 {source="MONDO:equivalentTo"}
xref: UMLS:C1868193 {source="MEDGEN:357445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002076 {source="DOID:0080218", source="MESH:C566795"} ! pneumothorax
is_a: MONDO:0005087 {source="Orphanet:2903"} ! respiratory system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27310 {source="MONDO:mim2gene_medgen"} ! FLCN

[Term]
id: MONDO:0008260
name: Kindler syndrome
def: "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." [Orphanet:2908]
subset: gard_rare {source="GARD:4391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2908"}
subset: orphanet_rare {source="Orphanet:2908"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bullous acrokeratotic poikiloderma of Kindler and Weary" RELATED [OMIM:173650]
synonym: "congenital bullous poikiloderma" RELATED [GARD:0004391]
synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" RELATED EXCLUDE [DOID:0060472]
synonym: "KINDLER syndrome" RELATED [OMIM:173650]
synonym: "Kindler syndrome" EXACT [OMIM:173650]
synonym: "KNDLRS" RELATED ABBREVIATION [OMIM:173650]
synonym: "KS" EXACT ABBREVIATION [Orphanet:2908]
synonym: "poikiloderma of Kindler" EXACT [DOID:0060472, Orphanet:2908]
synonym: "poikiloderma, congenital, with bullae, Weary type" RELATED [OMIM:173650]
synonym: "poikiloderma, hereditary acrokeratotic" RELATED [OMIM:173650]
xref: DOID:0060472 {source="MONDO:equivalentTo"}
xref: GARD:4391 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:2908", source="Orphanet:2908/attributed", source="Orphanet:2908/ntbt"}
xref: MEDGEN:96060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536321 {source="Orphanet:2908", source="DOID:0060472", source="MONDO:equivalentTo", source="Orphanet:2908/e"}
xref: NANDO:1200239 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:173650 {source="MONDO:equivalentTo"}
xref: Orphanet:2908 {source="MONDO:equivalentTo"}
xref: SCTID:238836000 {source="MONDO:equivalentTo"}
xref: UMLS:C0406557 {source="MONDO:equivalentTo", source="MEDGEN:96060", source="MONDO:MEDGEN"}
is_a: MONDO:0019276 {source="Orphanet:2908"} ! inherited epidermolysis bullosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15889 {source="MONDO:mim2gene_medgen"} ! FERMT1

[Term]
id: MONDO:0008261
name: hereditary sclerosing poikiloderma, Weary type
subset: gard_rare {source="GARD:17136", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221039"}
subset: orphanet_rare {source="Orphanet:221039"}
subset: rare
synonym: "poikiloderma, hereditary sclerosing" RELATED [OMIM:173700]
xref: GARD:17136 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:221039", source="Orphanet:221039/attributed", source="Orphanet:221039/ntbt"}
xref: MEDGEN:91006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562824 {source="MONDO:equivalentTo"}
xref: OMIM:173700 {source="MONDO:equivalentTo", source="Orphanet:221039", source="Orphanet:221039/e"}
xref: Orphanet:221039 {source="OMIM:173700", source="MONDO:equivalentTo"}
xref: UMLS:C0343094 {source="MEDGEN:91006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016382 {source="Orphanet:221039"} ! hereditary poikiloderma

[Term]
id: MONDO:0008262
name: Poland syndrome
def: "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." [Orphanet:2911]
subset: gard_rare {source="GARD:7412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1587"}
subset: ordo_disorder {source="Orphanet:2911"}
subset: ordo_malformation_syndrome {source="Orphanet:2911"}
subset: orphanet_rare {source="Orphanet:2911"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pectoralis muscle, absence of" RELATED [OMIM:173800]
synonym: "Poland anomaly" EXACT [Orphanet:2911]
synonym: "Poland sequence" EXACT [OMIM:173800, Orphanet:2911]
synonym: "Poland syndactyly" RELATED [OMIM:173800]
synonym: "Poland syndrome" EXACT [OMIM:173800]
synonym: "Poland's syndactyly" EXACT [DOID:12961]
synonym: "Poland's syndrome" RELATED [GARD:0007412]
synonym: "unilateral defect of pectoralis muscle and syndactyly of the hand" RELATED [GARD:0007412]
xref: DOID:12961 {source="MONDO:equivalentTo"}
xref: GARD:7412 {source="MONDO:GARD"}
xref: ICD10CM:Q79.8 {source="Orphanet:2911/inclusion", source="Orphanet:2911", source="Orphanet:2911/ntbt", source="DOID:12961"}
xref: icd11.foundation:1364451323 {source="MONDO:equivalentTo", source="Orphanet:2911"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10036007 {source="Orphanet:2911", source="Orphanet:2911/e"}
xref: MEDGEN:10822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011045 {source="MONDO:equivalentTo", source="Orphanet:2911", source="Orphanet:2911/e", source="DOID:12961"}
xref: NCIT:C85017 {source="MONDO:equivalentTo", source="DOID:12961"}
xref: NORD:1587 {source="MONDO:NORD"}
xref: OMIM:173800 {source="MONDO:equivalentTo", source="Orphanet:2911", source="Orphanet:2911/e", source="DOID:12961"}
xref: Orphanet:2911 {source="OMIM:173800", source="MONDO:equivalentTo"}
xref: SCTID:205524002 {source="DOID:12961"}
xref: SCTID:38371006 {source="MONDO:equivalentTo", source="DOID:12961"}
xref: UMLS:C0032357 {source="MEDGEN:10822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85017"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015856 {source="Orphanet:2911"} ! syndromic breast hypoplasia/aplasia
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
is_a: MONDO:0020120 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal muscle disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome" xsd:anyURI {source="GARD:0007412"}

[Term]
id: MONDO:0008263
name: polycystic kidney disease 1
def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "APKD1" EXACT ABBREVIATION [DOID:0110858]
synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD1" EXACT [MONDO:design_pattern]
synonym: "PKD1" EXACT ABBREVIATION [DOID:0110858, MONDO:Lexical, OMIM:173900]
synonym: "PKD1 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "polycystic kidney disease 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:173900]
synonym: "polycystic kidney disease 1 with or without polycystic liver disease" RELATED [OMIM:173900]
synonym: "polycystic kidney disease type 1" EXACT [DOID:0110858, MONDORULE:1, OMIM:173900]
synonym: "polycystic kidney disease, adult" RELATED [OMIM:173900]
synonym: "polycystic kidney disease, adult, type 1" RELATED [OMIM:173900]
synonym: "polycystic kidney disease, adult, type I" EXACT [DOID:0110858]
synonym: "Potter type 3 polycystic kidney disease" RELATED [OMIM:173900]
synonym: "Potter type 3 polycystic kidney disease, formerly" RELATED [OMIM:173900]
xref: DOID:0110858 {source="MONDO:equivalentTo"}
xref: GARD:18597 {source="MONDO:GARD"}
xref: MEDGEN:461191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536326 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:173900 {source="MONDO:equivalentTo", source="DOID:0110858"}
xref: Orphanet:730 {source="OMIM:173900"}
xref: SCTID:253878003 {source="MONDO:equivalentTo"}
xref: UMLS:C3149841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461191"}
is_a: MONDO:0004691 {source="DC-OMIM:173900", source="DOID:0110858", source="MONDO:Redundant", source="OMIM:173900"} ! autosomal dominant polycystic kidney disease
intersection_of: MONDO:0004691 ! autosomal dominant polycystic kidney disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9008 ! PKD1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:173900"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9008 {source="MONDO:mim2gene_medgen"} ! PKD1

[Term]
id: MONDO:0008264
name: autosomal dominant medullary cystic kidney disease with or without hyperuricemia
def: "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)." [GARD:0010801, PMID:25738250]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10801", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:34149"}
subset: orphanet_rare {source="Orphanet:34149"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADTKD" EXACT ABBREVIATION [Orphanet:34149]
synonym: "autosomal dominant interstitial kidney disease" EXACT [NCIT:C123171]
synonym: "autosomal dominant medullary cystic kidney disease" EXACT [Orphanet:34149]
synonym: "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" EXACT [GARD:0010801]
synonym: "autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:34149]
synonym: "MCKD" RELATED ABBREVIATION [GARD:0010801, OMIM:174000]
synonym: "medullary cystic disease" RELATED [GARD:0010801]
synonym: "medullary cystic kidney disease" RELATED [GARD:0010801]
synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000]
xref: GARD:10801 {source="MONDO:GARD"}
xref: ICD10CM:Q61.5 {source="Orphanet:34149", source="Orphanet:34149/e", source="Orphanet:34149/specific"}
xref: icd11.foundation:216863438 {source="Orphanet:34149", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1377523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536137 {source="MONDO:equivalentTo"}
xref: Orphanet:34149 {source="MONDO:equivalentTo", source="OMIM:174000", source="GARD:0010801"}
xref: SCTID:444699000 {source="MONDO:equivalentTo"}
xref: UMLS:C4511620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1377523"}
is_a: MONDO:0002473 {source="MESH:C536137/inferred", source="NCIT:C123171"} ! cystic kidney disease
is_a: MONDO:0019741 {source="Orphanet:34149"} ! familial cystic renal disease
relationship: has_characteristic HP:0000006 {source="GARD:0010801"} ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease" xsd:anyURI {source="GARD:0010801"}

[Term]
id: MONDO:0008265
name: polycystic liver disease 1
def: "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver." [Orphanet:2924]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:2924"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADPCLD" RELATED ABBREVIATION [Orphanet:2924]
synonym: "autosomal dominant polycystic liver disease" RELATED [Orphanet:2924]
synonym: "isolated autosomal dominant polycystic liver disease" RELATED [GARD:0009457]
synonym: "isolated congenital polycystic liver disease" BROAD [Orphanet:2924]
synonym: "isolated polycystic liver disease" BROAD [Orphanet:2924]
synonym: "nonsyndromic congenital polycystic liver disease" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic polycystic liver disease (disease)" EXACT [MONDO:patterns/isolated]
synonym: "PCLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174050, Orphanet:2924]
synonym: "PCLD1" EXACT ABBREVIATION [OMIM:174050]
synonym: "polycystic liver disease" RELATED [MONDO:Lexical, OMIM:174050]
synonym: "polycystic liver disease 1" EXACT CLINGEN_LABEL []
synonym: "polycystic liver disease 1 with or without kidney cysts" EXACT [OMIM:174050]
xref: ICD10CM:Q44.6 {source="Orphanet:2924/e", source="Orphanet:2924/specific", source="Orphanet:2924"}
xref: MedDRA:10010427 {source="Orphanet:2924/e", source="Orphanet:2924"}
xref: MedDRA:10048834 {source="Orphanet:2924/e", source="Orphanet:2924"}
xref: MEDGEN:165781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:174050 {source="Orphanet:2924/e", source="MONDO:equivalentTo", source="Orphanet:2924"}
xref: Orphanet:2924 {source="OMIM:174050"}
xref: SCTID:716196007 {source="MONDO:equivalentTo"}
xref: UMLS:C0887850 {source="MEDGEN:165781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000447 {source="DC-OMIM:174050", source="MONDO:Redundant", source="OMIM:174050"} ! autosomal dominant polycystic liver disease
intersection_of: MONDO:0000447 ! autosomal dominant polycystic liver disease
intersection_of: disease_has_basis_in_disruption_of http://identifiers.org/hgnc/9411 ! PRKCSH
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:174050", source="Orphanet:2924"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0008266
name: polydactyly, postaxial, type A1
subset: gard_rare {source="GARD:4414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PAPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174200]
synonym: "polydactyly, postaxial" RELATED [OMIM:174200]
synonym: "polydactyly, postaxial, type A1" EXACT [MONDO:Lexical, OMIM:174200]
synonym: "polydactyly, postaxial, types A1 and B" EXACT [OMIM:174200, OMIM:genemap2]
synonym: "postaxial polydactyly, type A" RELATED [OMIM:174200]
synonym: "postaxial polydactyly, type B" RELATED [OMIM:174200]
xref: GARD:4414 {source="MONDO:GARD"}
xref: MEDGEN:924305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:174200 {source="MONDO:equivalentTo"}
xref: Orphanet:93334 {source="OMIM:174200"}
xref: Orphanet:93335 {source="MONDO:relatedTo", source="OMIM:174200"}
xref: UMLS:C4282400 {source="MEDGEN:924305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008267
name: orofaciodigital syndrome V
def: "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." [Orphanet:2919]
subset: gard_rare {source="GARD:4120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2919"}
subset: ordo_malformation_syndrome {source="Orphanet:2919"}
subset: orphanet_rare {source="Orphanet:2919"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OFD syndrome 5" RELATED [GARD:0004120]
synonym: "OFD5" EXACT ABBREVIATION [DOID:0060375, MONDO:Lexical, OMIM:174300, Orphanet:2919]
synonym: "Ofds 5" RELATED [OMIM:174300]
synonym: "oral facial digital syndrome 5" RELATED [GARD:0004120]
synonym: "oral facial digital syndrome type 5" RELATED [GARD:0004120]
synonym: "oral-facial-digital syndrome 5" RELATED [GARD:0004120]
synonym: "oral-facial-digital syndrome type 5" EXACT [Orphanet:2919]
synonym: "oral-Facial-digital syndrome, type 5" RELATED [OMIM:174300]
synonym: "orofaciodigital syndrome 5" RELATED [GARD:0004120]
synonym: "orofaciodigital syndrome Thurston type" EXACT [DOID:0060375]
synonym: "orofaciodigital syndrome type 5" EXACT [MONDORULE:1, OMIM:174300]
synonym: "orofaciodigital syndrome type V" EXACT [DOID:0060375, MONDORULE:1]
synonym: "orofaciodigital syndrome V" EXACT [MONDO:Lexical, OMIM:174300]
synonym: "orofaciodigital syndrome, Thurston type" EXACT [OMIM:174300, Orphanet:2919]
synonym: "polydactyly postaxial with median cleft of upper lip" EXACT [Orphanet:2919]
synonym: "polydactyly, postaxial, with Median cleft of upper lip" RELATED [OMIM:174300]
synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [DOID:0060375]
synonym: "Thurston syndrome" EXACT [OMIM:174300, Orphanet:2919]
xref: DOID:0060375 {source="MONDO:equivalentTo"}
xref: GARD:4120 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2919", source="Orphanet:2919/attributed", source="Orphanet:2919/ntbt"}
xref: MEDGEN:358131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557819 {source="DOID:0060375", source="MONDO:equivalentTo"}
xref: OMIM:174300 {source="Orphanet:2919", source="DOID:0060375", source="MONDO:equivalentTo", source="Orphanet:2919/e"}
xref: Orphanet:2919 {source="DOID:0060375", source="MONDO:equivalentTo", source="OMIM:174300"}
xref: SCTID:722105002 {source="MONDO:equivalentTo"}
xref: UMLS:C1868118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358131"}
is_a: MONDO:0015375 {source="DC-OMIM:174300", source="DOID:0060375", source="MESH:C557819", source="Orphanet:2919"} ! orofaciodigital syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2919", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25360 {source="MONDO:mim2gene_medgen"} ! DDX59
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5" xsd:anyURI {source="GARD:0004120"}

[Term]
id: MONDO:0008268
name: polydactyly-myopia syndrome
def: "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." [Orphanet:2917]
subset: gard_rare {source="GARD:4413", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2917"}
subset: ordo_malformation_syndrome {source="Orphanet:2917"}
subset: orphanet_rare {source="Orphanet:2917"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Czeizel Brooser syndrome" RELATED [GARD:0004413]
synonym: "Czeizel-Brooser syndrome" EXACT [Orphanet:2917]
synonym: "PMS" RELATED ABBREVIATION [GARD:0004413]
synonym: "polydactyly myopia syndrome" RELATED [GARD:0004413]
synonym: "polydactyly, postaxial, with progressive myopia" RELATED [OMIM:174310]
synonym: "polydactyly-myopia syndrome" EXACT [OMIM:174310]
synonym: "postaxial polydactyly with progressive myopia" RELATED [GARD:0004413]
synonym: "postaxial polydactyly-progressive myopia syndrome" RELATED [GARD:0004413]
xref: GARD:4413 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2917/attributed", source="Orphanet:2917/ntbt", source="Orphanet:2917"}
xref: ICD9:625.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:357424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536331 {source="MONDO:equivalentTo"}
xref: OMIM:174310 {source="Orphanet:2917/e", source="MONDO:equivalentTo", source="Orphanet:2917"}
xref: Orphanet:2917 {source="MONDO:equivalentTo", source="OMIM:174310"}
xref: SCTID:82639001 {source="MONDO:equivalentTo"}
xref: UMLS:C1868117 {source="MONDO:equivalentTo", source="MEDGEN:357424", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:2917"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome" xsd:anyURI {source="GARD:0004413"}

[Term]
id: MONDO:0008269
name: polydactyly of a biphalangeal thumb
def: "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." [Orphanet:93339]
subset: gard_rare {source="GARD:4417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93339"}
subset: ordo_morphological_anomaly {source="Orphanet:93339"}
subset: orphanet_rare {source="Orphanet:93339"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fromont anomaly" RELATED [OMIM:174400]
synonym: "polydactyly preaxial 1" RELATED [GARD:0004417]
synonym: "polydactyly, preaxial 1" RELATED [OMIM:174400]
synonym: "polydactyly, preaxial I" RELATED [OMIM:174400]
synonym: "polydactyly, preaxial type 1" EXACT [MONDORULE:1, OMIM:174400]
synonym: "PPD1" EXACT ABBREVIATION [Orphanet:93339]
synonym: "preaxial polydactyly 1" RELATED [GARD:0004417]
synonym: "preaxial polydactyly type 1" EXACT [Orphanet:93339]
synonym: "thenar hypoplasia" RELATED [OMIM:174400]
synonym: "thumb polydactyly" RELATED [OMIM:174400]
xref: GARD:4417 {source="MONDO:GARD"}
xref: ICD10CM:Q69.1 {source="Orphanet:93339/e", source="Orphanet:93339/specific", source="Orphanet:93339"}
xref: MEDGEN:237235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536332 {source="MONDO:equivalentTo"}
xref: OMIM:174400 {source="Orphanet:93339/e", source="MONDO:equivalentTo", source="Orphanet:93339"}
xref: Orphanet:93339 {source="MONDO:equivalentTo", source="OMIM:174400"}
xref: SCTID:445216006 {source="MONDO:equivalentTo"}
xref: UMLS:C1395852 {source="MEDGEN:237235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017425 {source="DC-OMIM:174400", source="Orphanet:93339"} ! preaxial polydactyly of fingers
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008270
name: polydactyly of a triphalangeal thumb
def: "A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." [https://orcid.org/0000-0001-5208-3432, Orphanet:93336]
subset: gard_rare {source="GARD:5289", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93336"}
subset: ordo_morphological_anomaly {source="Orphanet:93336"}
subset: orphanet_rare {source="Orphanet:93336"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polydactyly of triphalangeal thumb" RELATED [OMIM:174500]
synonym: "polydactyly, preaxial 2" RELATED [OMIM:174500]
synonym: "polydactyly, preaxial II" RELATED [MONDO:Lexical, OMIM:174500]
synonym: "polydactyly, preaxial type 2" EXACT [MONDORULE:1, OMIM:174500]
synonym: "polydactyly, preaxial type II" EXACT [OMIM:174500, OMIM:genemap2]
synonym: "PPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:174500, Orphanet:93336]
synonym: "preaxial polydactyly type 2" EXACT [Orphanet:93336]
synonym: "TPT-PS syndrome" RELATED [OMIM:174500]
synonym: "triphalangeal thumb" RELATED [OMIM:174500]
synonym: "triphalangeal thumb with polysyndactyly" RELATED [OMIM:174500]
synonym: "triphalangeal thumb, type i" EXACT [OMIM:174500, OMIM:genemap2]
synonym: "triphalangeal thumb-polydactyly syndrome" RELATED [OMIM:174500]
synonym: "triphalangeal thumb-polysyndactyly syndrome" RELATED [OMIM:174500]
xref: GARD:5289 {source="MONDO:GARD"}
xref: ICD10CM:Q69.1 {source="Orphanet:93336", source="Orphanet:93336/attributed", source="Orphanet:93336/ntbt"}
xref: MEDGEN:357423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:174500 {source="MONDO:equivalentTo", source="Orphanet:93336", source="Orphanet:93336/ntbt"}
xref: Orphanet:2950 {source="MONDO:relatedTo", source="OMIM:174500"}
xref: Orphanet:93336 {source="MONDO:equivalentTo", source="OMIM:174500"}
xref: SCTID:715710001 {source="MONDO:equivalentTo"}
xref: UMLS:C1868114 {source="MEDGEN:357423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017425 {source="DC-OMIM:174500", source="Orphanet:93336"} ! preaxial polydactyly of fingers
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008271
name: polydactyly of an index finger
def: "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962." [Orphanet:93337]
subset: gard_rare {source="GARD:2256", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93337"}
subset: ordo_morphological_anomaly {source="Orphanet:93337"}
subset: orphanet_rare {source="Orphanet:93337"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "index finger polydactyly" RELATED [OMIM:174600]
synonym: "polydactyly, preaxial 3" RELATED [OMIM:174600]
synonym: "polydactyly, preaxial III" RELATED [OMIM:174600]
synonym: "polydactyly, preaxial type 3" EXACT [MONDORULE:1, OMIM:174600]
synonym: "PPD3" EXACT ABBREVIATION [Orphanet:93337]
synonym: "preaxial polydactyly type 3" EXACT [Orphanet:93337]
xref: GARD:2256 {source="MONDO:GARD"}
xref: ICD10CM:Q69.0 {source="Orphanet:93337", source="Orphanet:93337/attributed", source="Orphanet:93337/ntbt"}
xref: MEDGEN:357422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566784 {source="MONDO:equivalentTo"}
xref: OMIM:174600 {source="MONDO:equivalentTo", source="Orphanet:93337", source="Orphanet:93337/e"}
xref: Orphanet:93337 {source="MONDO:equivalentTo", source="OMIM:174600"}
xref: SCTID:723446006 {source="MONDO:equivalentTo"}
xref: UMLS:C1868113 {source="MEDGEN:357422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017425 {source="DC-OMIM:174600", source="Orphanet:93337"} ! preaxial polydactyly of fingers
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008272
name: polysyndactyly 4
def: "Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present." [Orphanet:93338]
subset: gard_rare {source="GARD:9903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93338"}
subset: ordo_morphological_anomaly {source="Orphanet:93338"}
subset: orphanet_rare {source="Orphanet:93338"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "crossed polydactyly type 1" RELATED [GARD:0001616]
synonym: "crossed polydactyly, type 1" RELATED [OMIM:174700]
synonym: "polydactyly preaxial 4" RELATED [GARD:0009903]
synonym: "polydactyly, preaxial 4" RELATED [OMIM:174700]
synonym: "polydactyly, preaxial IV" RELATED [OMIM:174700]
synonym: "polydactyly, preaxial type 4" EXACT [MONDORULE:1, OMIM:174700]
synonym: "polydactyly, preaxial, type IV" EXACT [OMIM:174700, OMIM:genemap2]
synonym: "polysyndactyly uncomplicated" RELATED [GARD:0009903]
synonym: "polysyndactyly, uncomplicated" RELATED [OMIM:174700]
synonym: "PPD4" EXACT ABBREVIATION [Orphanet:93338]
synonym: "preaxial polydactyly 4" RELATED [GARD:0009903]
synonym: "preaxial polydactyly type 4" EXACT [Orphanet:93338]
xref: GARD:9903 {source="MONDO:GARD"}
xref: ICD10CM:Q70.4 {source="Orphanet:93338/e", source="Orphanet:93338/specific", source="Orphanet:93338"}
xref: icd11.foundation:973656080 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:93338"}
xref: ICD9:755.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063143 {source="Orphanet:93338/e", source="Orphanet:93338"}
xref: MEDGEN:357420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125597
xref: OMIM:174700 {source="Orphanet:93338/e", source="MONDO:equivalentTo", source="Orphanet:93338"}
xref: Orphanet:93338 {source="OMIM:174700", source="MONDO:equivalentTo"}
xref: SCTID:84598000
xref: UMLS:C1868111 {source="MEDGEN:357420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C125597"} ! metabolic disease
is_a: MONDO:0017425 {source="DC-OMIM:174700", source="Orphanet:93338"} ! preaxial polydactyly of fingers
is_a: MONDO:0021651 {source="https://github.com/monarch-initiative/mondo/issues/3919", source="https://orcid.org/0000-0002-4142-7153"} ! synpolydactyly
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: excluded_subClassOf MONDO:0005066 {source="NCIT:C125597", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1" xsd:anyURI {source="GARD:0001616"}

[Term]
id: MONDO:0008273
name: actinic prurigo
subset: gard_rare {source="GARD:17510", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330061"}
subset: orphanet_rare {source="Orphanet:330061"}
subset: rare
synonym: "actinic prurigo" EXACT [OMIM:174770]
synonym: "familial polymorphous light eruption of American Indians" EXACT [Orphanet:330061]
synonym: "hereditary polymorphous light eruption of American Indians" EXACT [Orphanet:330061]
synonym: "Hutchinson summer prurigo" EXACT [Orphanet:330061]
synonym: "hydroa aestivale" EXACT [Orphanet:330061]
synonym: "juvenile Spring eruption of ears" RELATED [OMIM:174770]
synonym: "polymorphic Light eruption, hereditary" RELATED [OMIM:174770]
xref: GARD:17510 {source="MONDO:GARD"}
xref: ICD10CM:L56.4 {source="Orphanet:330061/ntbt", source="Orphanet:330061"}
xref: MEDGEN:98348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566780 {source="MONDO:equivalentTo"}
xref: OMIM:174770 {source="Orphanet:330061/e", source="MONDO:equivalentTo", source="Orphanet:330061"}
xref: Orphanet:330061 {source="MONDO:equivalentTo"}
xref: SCTID:201015007 {source="MONDO:equivalentTo"}
xref: UMLS:C0406217 {source="MEDGEN:98348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder

[Term]
id: MONDO:0008274
name: polyostotic fibrous dysplasia
def: "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome." [NCIT:P378]
subset: gard_rare {source="GARD:4213", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibrous dysplasia of bone" BROAD [NCIT:C34609]
synonym: "PFD" EXACT ABBREVIATION [OMIM:174800]
synonym: "polyostotic fibrous dysplasia of bone" EXACT [NCIT:C34610]
xref: GARD:4213 {source="MONDO:GARD"}
xref: ICD10CM:Q78.1 {source="Orphanet:93276", source="Orphanet:93276/attributed", source="Orphanet:93276/ntbt", source="MONDO:equivalentTo"}
xref: ICD9:756.54 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10036120 {source="Orphanet:93276", source="Orphanet:93276/e"}
xref: MEDGEN:5180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005359 {source="Orphanet:93276", source="MONDO:equivalentTo", source="Orphanet:93276/e", source="https://orcid.org/0000-0002-6601-2165"}
xref: NCIT:C34610 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: OMIM:174800 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:93276 {source="MONDO:equivalentTo"}
xref: SCTID:36517007 {source="MONDO:equivalentTo"}
xref: UMLS:C0016065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5180"}
is_a: MONDO:0000845 {source="MESH:D005359", source="Orphanet:93276"} ! fibrous dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0008275
name: familial expansile osteolysis
subset: gard_rare {source="GARD:9168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85195"}
subset: orphanet_rare {source="Orphanet:85195"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EOF" RELATED ABBREVIATION [GARD:0009168]
synonym: "expansile osteolysis, familial" RELATED [OMIM:174810]
synonym: "familial expansile osteolysis" EXACT [MONDO:Lexical, OMIM:174810]
synonym: "FEO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174810]
synonym: "HEPOD" RELATED ABBREVIATION [GARD:0009168]
synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT [Orphanet:85195]
synonym: "McCabe disease" EXACT [Orphanet:85195]
synonym: "Mccabe disease" RELATED [OMIM:174810]
synonym: "osteolysis, familial expansile" RELATED [GARD:0009168]
synonym: "polyostotic osteolytic dysplasia, hereditary expansile" RELATED [OMIM:174810]
xref: DOID:0111542 {source="MONDO:equivalentTo"}
xref: GARD:9168 {source="MONDO:GARD"}
xref: ICD10CM:M89.5 {source="Orphanet:85195/attributed", source="Orphanet:85195/ntbt", source="Orphanet:85195"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536335 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"}
xref: OMIM:174810 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"}
xref: Orphanet:85195 {source="OMIM:174810", source="MONDO:equivalentTo"}
xref: SCTID:254153009 {source="MONDO:equivalentTo"}
xref: UMLS:C0432292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96593"}
is_a: MONDO:0019707 {source="Orphanet:85195", source="PMID:31633310"} ! primary osteolysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11908 {source="MONDO:mim2gene_medgen"} ! TNFRSF11A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008276
name: generalized juvenile polyposis/juvenile polyposis coli
subset: gard_rare {source="GARD:17508", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:329971"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "generalized juvenile polyposis/juvenile polyposis coli" EXACT CLINGEN_LABEL []
synonym: "jPS" RELATED [MONDO:Lexical, OMIM:174900]
synonym: "juvenile intestinal polyposis" RELATED [OMIM:174900]
synonym: "juvenile polyposis coli" RELATED [OMIM:174900]
synonym: "juvenile polyposis of stomach" RELATED [OMIM:174900]
synonym: "juvenile polyposis syndrome" RELATED [MONDO:Lexical, OMIM:174900]
synonym: "polyposis, familial, of Entire gastrointestinal tract" RELATED [OMIM:174900]
synonym: "polyposis, juvenile intestinal" RELATED [OMIM:174900]
xref: DOID:0050787 {source="MONDO:equivalentTo"}
xref: GARD:17508 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:329971", source="Orphanet:329971/attributed", source="Orphanet:329971/ntbt"}
xref: MEDGEN:356898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2929 {source="OMIM:174900"}
xref: Orphanet:329971 {source="OMIM:174900", source="MONDO:equivalentTo"}
xref: UMLS:C1868081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356898"}
is_a: MONDO:0000426 {source="DOID:0050787", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0017380 {source="Orphanet:329971"} ! juvenile polyposis syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:174900", source="Orphanet:329971"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6770 {source="https://clinicalgenome.org/affiliation/40043/"} ! SMAD4

[Term]
id: MONDO:0008277
name: stomach polyp
def: "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps)." [NCIT:C3954]
comment: Editor note: consider splitting polyposis from polyp
subset: otar {source="MONDO:OTAR"}
synonym: "gastric polyp" EXACT [NCIT:C3954]
synonym: "gastric polyposa" EXACT [NCIT:C3954]
synonym: "gastric polyposis" RELATED [NCIT:C3954]
synonym: "polyps of stomach" EXACT [NCIT:C3954]
synonym: "polyps of the stomach" EXACT [NCIT:C3954]
xref: MEDGEN:68629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562464 {source="MONDO:equivalentTo"}
xref: NCIT:C3954 {source="MONDO:equivalentTo"}
xref: SCTID:87252009 {source="MONDO:equivalentTo"}
xref: UMLS:C0236048 {source="MEDGEN:68629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004298 {source="MESH:C562464/inferred", source="MONDO:Redundant", source="NCIT:C3954"} ! stomach disorder
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_arises_from_structure UBERON:0000945 ! stomach
relationship: disease_has_location UBERON:0000945 {source="NCIT:C3954"} ! stomach

[Term]
id: MONDO:0008278
name: juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JP/Hht syndrome" RELATED [OMIM:175050]
synonym: "JPHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175050]
synonym: "jPS/Hht" RELATED [OMIM:175050]
synonym: "juvenile polyposis with hereditary hemorrhagic telangiectasia" RELATED [OMIM:175050]
synonym: "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:175050]
synonym: "polyposis, generalised juvenile, with pulmonary arteriovenous malformation" RELATED OMO:0003005 []
synonym: "polyposis, generalized juvenile, with pulmonary arteriovenous malformation" RELATED [OMIM:175050]
synonym: "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli" RELATED [OMIM:175050]
xref: DOID:0111543 {source="MONDO:equivalentTo"}
xref: MEDGEN:331400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563412 {source="MONDO:equivalentTo"}
xref: OMIM:175050 {source="MONDO:equivalentTo"}
xref: Orphanet:2929 {source="OMIM:175050"}
xref: UMLS:C1832942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331400"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015185 {source="https://orcid.org/0000-0001-5208-3432"} ! intestinal polyposis syndrome
is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0017380 {source="Orphanet:2929/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! juvenile polyposis syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6770 {source="MONDO:mim2gene_medgen", source="https://clinicalgenome.org/affiliation/40028"} ! SMAD4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3685" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0008279
name: obsolete familial adenomatous polyposis type 1
is_obsolete: true
replaced_by: MONDO:0021055

[Term]
id: MONDO:0008280
name: Peutz-Jeghers syndrome
def: "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." [Orphanet:2869]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7378", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1570", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2869"}
subset: orphanet_rare {source="Orphanet:2869"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colonic hamartomatous polyp" EXACT [DOID:3852, NCIT:C5519]
synonym: "gastric Peutz-Jeghers polyp" EXACT [DOID:3852]
synonym: "hamartomatous intestinal polyposis" EXACT [Orphanet:2869]
synonym: "Jeghers-Peutz syndrome" EXACT [NCIT:C3324]
synonym: "lentiginosis, perioral" RELATED [GARD:0007378]
synonym: "periorificial lentiginosis syndrome" RELATED [GARD:0007378]
synonym: "Peutz Jeghers colon polyp" EXACT [DOID:3852]
synonym: "Peutz Jeghers polyp" RELATED EXCLUDE [DOID:3852]
synonym: "Peutz Jeghers polyposis" RELATED [GARD:0007378]
synonym: "Peutz Jeghers Syndrome" EXACT [NORD:1570]
synonym: "Peutz's syndrome" EXACT [NCIT:C3324]
synonym: "Peutz-Jeghers polyp of small intestine" EXACT [DOID:3852, NCIT:C7755]
synonym: "Peutz-Jeghers small bowel hamartoma" EXACT [DOID:3852]
synonym: "Peutz-Jeghers syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C3324, OMIM:175200]
synonym: "PJS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3324, OMIM:175200, Orphanet:2869]
synonym: "polyposis, hamartomatous intestinal" RELATED [OMIM:175200]
synonym: "polyps and spots syndrome" EXACT [Orphanet:2869]
synonym: "polyps-and-Spots syndrome" RELATED [OMIM:175200]
xref: DOID:3852 {source="MONDO:equivalentTo"}
xref: GARD:7378 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="DOID:3852", source="Orphanet:2869/inclusion", source="Orphanet:2869", source="Orphanet:2869/ntbt"}
xref: icd11.foundation:969253189 {source="MONDO:equivalentTo", source="Orphanet:2869"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10034764 {source="Orphanet:2869/e", source="Orphanet:2869"}
xref: MEDGEN:18404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010580 {source="Orphanet:2869/e", source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869"}
xref: NANDO:2200917 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3324 {source="DOID:3852", source="MONDO:equivalentTo"}
xref: NCIT:C4733 {source="MONDO:relatedTo", source="DOID:3852"}
xref: NCIT:C7755 {source="DOID:3852"}
xref: NORD:1570 {source="MONDO:NORD"}
xref: OMIM:175200 {source="Orphanet:2869/e", source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869"}
xref: Orphanet:2869 {source="MONDO:equivalentTo", source="OMIM:175200"}
xref: SCTID:157029009 {source="DOID:3852"}
xref: SCTID:277161008 {source="DOID:3852"}
xref: SCTID:53633000 {source="DOID:3852"}
xref: SCTID:54411001 {source="DOID:3852", source="MONDO:equivalentTo"}
xref: UMLS:C0031269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18404"}
is_a: MONDO:0015185 {source="Orphanet:2869"} ! intestinal polyposis syndrome
is_a: MONDO:0015356 {source="MESH:D010580", source="MONDO:Redundant", source="NCIT:C3324", source="Orphanet:2869/inferred"} ! hereditary neoplastic syndrome
relationship: disease_has_feature MONDO:0006365 {source="NCIT:C3324"} ! Peutz-Jeghers polyp
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:2869"} ! hyperpigmentation of the skin
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11389 {source="MONDO:mim2gene_medgen"} ! STK11
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome" xsd:anyURI {source="GARD:0007378"}

[Term]
id: MONDO:0008281
name: polyposis, intestinal, scattered and discrete
synonym: "polyposis, intestinal, scattered and discrete" EXACT [OMIM:175400]
synonym: "polyps, scattered, discrete intestinal" RELATED [OMIM:175400]
xref: MEDGEN:358114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:175400 {source="MONDO:equivalentTo"}
xref: UMLS:C1868006 {source="MEDGEN:358114", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000147 {source="DC-OMIM:175400"} ! polyposis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008282
name: polyposis, intestinal, with multiple exostoses
synonym: "polyposis, intestinal, with multiple exostoses" EXACT [OMIM:175450]
xref: MEDGEN:401357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566776 {source="MONDO:equivalentTo"}
xref: OMIM:175450 {source="MONDO:equivalentTo"}
xref: UMLS:C1868005 {source="MEDGEN:401357", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566776/inferred"} ! hereditary disease

[Term]
id: MONDO:0008283
name: Cronkhite-Canada syndrome
def: "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." [Orphanet:2930]
subset: gard_rare {source="GARD:4427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1017"}
subset: ordo_disorder {source="Orphanet:2930"}
subset: orphanet_rare {source="Orphanet:2930"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cronkhite-Canada disease" RELATED [GARD:0004427]
synonym: "Cronkhite-Canada syndrome" EXACT [OMIM:175500]
synonym: "gastric Cronkhite Canada polyposis" EXACT [DOID:6225]
synonym: "gastrointestinal polyposis-ectodermal changes syndrome" EXACT [Orphanet:2930]
synonym: "gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome" EXACT [Orphanet:2930]
synonym: "polyposis skin pigmentation alopecia fingernail changes" RELATED [GARD:0004427]
synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" RELATED [OMIM:175500]
xref: DOID:6225 {source="MONDO:equivalentTo"}
xref: GARD:4427 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:2930", source="Orphanet:2930/ntbt"}
xref: icd11.foundation:79007466 {source="MONDO:equivalentTo", source="Orphanet:2930"}
xref: MedDRA:10062907 {source="Orphanet:2930", source="Orphanet:2930/e"}
xref: MEDGEN:129128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D044483 {source="MONDO:equivalentTo"}
xref: NANDO:1200901 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7035 {source="DOID:6225", source="MONDO:equivalentTo"}
xref: NORD:1017 {source="MONDO:NORD"}
xref: OMIM:175500 {source="MONDO:equivalentTo", source="GARD:0004427", source="Orphanet:2930", source="Orphanet:2930/e"}
xref: Orphanet:2930 {source="MONDO:equivalentTo", source="GARD:0004427", source="OMIM:175500"}
xref: SCTID:76304001 {source="MONDO:equivalentTo"}
xref: UMLS:C0282207 {source="MEDGEN:129128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="MONDO:Redundant", source="Orphanet:2930/inferred"} ! digestive system disorder
is_a: MONDO:0015185 {source="Orphanet:2930"} ! intestinal polyposis syndrome
is_a: MONDO:0019287 {source="Orphanet:2930"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0006224 {source="NCIT:C7035", source="https://orcid.org/0000-0001-5208-3432"} ! gastric hamartomatous polyp
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015615"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease" xsd:anyURI {source="GARD:0004427"}

[Term]
id: MONDO:0008284
name: polyposis of gastric fundus without polyposis coli
synonym: "fundic gland polyposis" RELATED [OMIM:175505]
synonym: "polyposis of gastric fundus without polyposis coli" EXACT [OMIM:175505]
xref: MEDGEN:357403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566775 {source="MONDO:equivalentTo"}
xref: OMIM:175505 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1868001 {source="MEDGEN:357403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000147 {source="DC-OMIM:175505"} ! polyposis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008285
name: polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
subset: gard_rare {source="GARD:15106", source="MONDO:GARD"}
subset: rare
synonym: "gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial" EXACT [OMIM:175510, OMIM:genemap2]
synonym: "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" EXACT [OMIM:175510]
xref: GARD:15106 {source="MONDO:GARD"}
xref: MEDGEN:1677803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566774 {source="MONDO:equivalentTo"}
xref: OMIM:175510 {source="MONDO:equivalentTo"}
xref: UMLS:C5193005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677803"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008286
name: crossed polysyndactyly
def: "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." [Orphanet:2935]
subset: gard_rare {source="GARD:1617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2935"}
subset: ordo_malformation_syndrome {source="Orphanet:2935"}
subset: orphanet_rare {source="Orphanet:2935"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "crossed polydactyly" EXACT [Orphanet:2935]
synonym: "polysyndactyly, crossed" RELATED [OMIM:175690]
xref: GARD:1617 {source="MONDO:GARD"}
xref: ICD10CM:Q70.4 {source="Orphanet:2935", source="Orphanet:2935/attributed", source="Orphanet:2935/ntbt"}
xref: MEDGEN:358112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566773 {source="MONDO:equivalentTo"}
xref: OMIM:175690 {source="Orphanet:2935/e", source="MONDO:equivalentTo", source="Orphanet:2935"}
xref: Orphanet:2935 {source="OMIM:175690", source="MONDO:equivalentTo"}
xref: UMLS:C1867999 {source="MEDGEN:358112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="Orphanet:2935"} ! congenital limb malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly" xsd:anyURI {source="GARD:0001617"}

[Term]
id: MONDO:0008287
name: Greig cephalopolysyndactyly syndrome
def: "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." [Orphanet:380]
subset: gard_rare {source="GARD:6550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1206"}
subset: ordo_disorder {source="Orphanet:380"}
subset: ordo_malformation_syndrome {source="Orphanet:380"}
subset: orphanet_rare {source="Orphanet:380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GCPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175700, Orphanet:380]
synonym: "Greig cephalopolysyndactyly syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:175700]
synonym: "Greig cephalosyndactyly syndrome" EXACT [NCIT:C35255]
synonym: "Greig syndrome" RELATED [GARD:0006550]
synonym: "Greig's syndrome" EXACT [NCIT:C35255]
synonym: "polysyndactyly with peculiar skull Shape" RELATED [OMIM:175700]
synonym: "polysyndactyly with peculiars skull shape" EXACT [DOID:14761]
xref: DOID:14761 {source="MONDO:equivalentTo"}
xref: GARD:6550 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:380", source="Orphanet:380/attributed", source="Orphanet:380/ntbt"}
xref: MedDRA:10053878 {source="Orphanet:380", source="Orphanet:380/e"}
xref: MEDGEN:120531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537300 {source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="Orphanet:380/e"}
xref: NCIT:C35255 {source="MONDO:equivalentTo", source="DOID:14761"}
xref: NORD:1206 {source="MONDO:NORD"}
xref: OMIM:175700 {source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="Orphanet:380/e"}
xref: Orphanet:380 {source="MONDO:equivalentTo", source="OMIM:175700"}
xref: SCTID:32985001 {source="MONDO:equivalentTo", source="DOID:14761"}
xref: UMLS:C0265306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120531"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35255"} ! syndromic disease
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: excluded_subClassOf MONDO:0019796 {source="DOID:14761", source="https://orcid.org/0000-0001-5208-3432"} ! acrocephalosyndactyly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome" xsd:anyURI {source="GARD:0006550"}

[Term]
id: MONDO:0008288
name: popliteal cyst
def: "A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." [MESH:D011151]
synonym: "baker cyst" RELATED [OMIM:175750]
synonym: "popliteal cyst" EXACT [OMIM:175750]
xref: ICD9:727.51 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011151 {source="MONDO:equivalentTo"}
xref: OMIM:175750 {source="MONDO:equivalentTo"}
xref: SCTID:82675004 {source="MONDO:equivalentTo"}
xref: UMLS:C0032650 {source="MEDGEN:10853", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008289
name: brain small vessel disease 1 with or without ocular anomalies
def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15107", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36383"}
subset: orphanet_rare {source="Orphanet:36383"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADT1P" EXACT ABBREVIATION [OMIM:175780]
synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [DOID:0090125]
synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT [DOID:0090125]
synonym: "brain small vessel disease with axenfeld-rieger anomaly" EXACT [OMIM:175780, OMIM:607595]
synonym: "brain small vessel disease with haemorrhage" EXACT OMO:0003005 []
synonym: "brain small vessel disease with hemorrhage" EXACT [DOID:0090125, OMIM:175780]
synonym: "brain small vessel disease with or without ocular anomalies" EXACT [DOID:0090125, MONDO:Lexical, OMIM:607595]
synonym: "BSVD" EXACT ABBREVIATION [DOID:0090125, MONDO:Lexical, OMIM:607595]
synonym: "BSVD1" EXACT ABBREVIATION [OMIM:175780]
synonym: "COL4A1 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "COL4A1-related brain small vessel disease with haemorrhage" EXACT OMO:0003005 []
synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT [DOID:0090125, Orphanet:36383]
synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [OMIM:607595]
synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT [DOID:0090125, Orphanet:36383]
synonym: "hemiplegia, infantile, with porencephaly" EXACT [OMIM:175780]
synonym: "hemiplegia, infantile, with porencephaly porencephaly, type 1" RELATED [OMIM:175780]
synonym: "infantile hemiparesis" EXACT [DOID:0090125, OMIM:607595]
synonym: "leukoencephalopathy with axenfeld-rieger anomaly" EXACT [DOID:0090125, OMIM:175780, OMIM:607595]
synonym: "POREN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175780]
synonym: "porencephaly 1" EXACT [https://github.com/monarch-initiative/mondo/issues/1089, MONDO:Lexical, OMIM:175780]
synonym: "porencephaly caused by mutation in COL4A1" EXACT [MONDO:design_pattern]
synonym: "porencephaly type 1" EXACT [MONDORULE:1, OMIM:175780]
synonym: "porencephaly, type 1, autosomal dominant" RELATED [OMIM:175780]
synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [OMIM:175780, OMIM:607595]
synonym: "T1P" EXACT ABBREVIATION [OMIM:175780]
xref: DOID:0090125 {source="MONDO:equivalentTo"}
xref: GARD:15107 {source="MONDO:GARD"}
xref: ICD10CM:I67.3 {source="Orphanet:36383/attributed", source="Orphanet:36383/ntbt"}
xref: MEDGEN:1647320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531642 {source="MONDO:equivalentTo", source="Orphanet:36383/e"}
xref: MESH:C564372 {source="MONDO:MEDIC", source="MONDO:equivalentTo"}
xref: OMIM:175780 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:607595 {source="MONDO:equivalentObsolete", source="Orphanet:36383", source="DOID:0090125", source="Orphanet:36383/e"}
xref: Orphanet:2940 {source="OMIM:175780"}
xref: Orphanet:36383 {source="MONDO:equivalentTo", source="DOID:0090125", source="OMIM:607595"}
xref: Orphanet:99810 {source="OMIM:175780"}
xref: UMLS:C4551998 {source="MEDGEN:1647320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017410 {source="MONDO:Redundant", source="OMIM:175780"} ! porencephaly
is_a: MONDO:0020496 {source="Orphanet:99810/btnt"} ! familial porencephaly
relationship: excluded_subClassOf MONDO:0018790 {source="Orphanet:36383", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="MONDO:mim2gene_medgen"} ! COL4A1

[Term]
id: MONDO:0008290
name: porokeratosis 1, Mibelli type
subset: gard_rare {source="GARD:15108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POROK1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175800]
synonym: "porokeratosis 1, MIBELLI type" RELATED [MONDO:Lexical, OMIM:175800]
synonym: "porokeratosis 1, multiple types" RELATED [OMIM:175800]
synonym: "porokeratosis of Mibelli" RELATED [OMIM:175800]
xref: GARD:15108 {source="MONDO:GARD"}
xref: OMIM:175800 {source="MONDO:equivalentTo"}
xref: Orphanet:735 {source="OMIM:175800"}
is_a: MONDO:0006602 {source="MONDO:0008290/inferred", source="MONDO:Redundant", source="OMIM:175800"} ! porokeratosis
is_a: MONDO:0019141 {source="Orphanet:735/btnt"} ! porokeratosis of Mibelli
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9141 {source="MONDO:mim2gene_medgen"} ! PMVK

[Term]
id: MONDO:0008291
name: porokeratosis plantaris palmaris et disseminata
def: "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." [Orphanet:737]
subset: gard_rare {source="GARD:16542", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:737"}
subset: orphanet_rare {source="Orphanet:737"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "palmar, plantar and disseminated porokeratosis" EXACT [Orphanet:737]
synonym: "POROK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175850]
synonym: "porokeratosis 2, palmar, plantar, and disseminated" EXACT [OMIM:175850, OMIM:genemap2]
synonym: "porokeratosis 2, palmar, plantar, and disseminated type" RELATED [MONDO:Lexical, OMIM:175850]
synonym: "porokeratosis palmaris Et plantaris disseminata" RELATED [OMIM:175850]
synonym: "porokeratosis plantaris palmaris et disseminata" EXACT [OMIM:175850]
synonym: "porokeratosis, palmar, plantar, and disseminated" RELATED [OMIM:175850]
synonym: "porokeratosis, palmar, plantar, and disseminated, 1" RELATED [OMIM:175850]
xref: GARD:16542 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:737", source="Orphanet:737/attributed", source="Orphanet:737/ntbt"}
xref: MEDGEN:56517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:175850 {source="MONDO:equivalentTo", source="Orphanet:737", source="Orphanet:737/e"}
xref: Orphanet:737 {source="MONDO:equivalentTo", source="OMIM:175850"}
xref: SCTID:718218005 {source="MONDO:equivalentTo"}
xref: UMLS:C0162838 {source="MEDGEN:56517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006602 {source="DC-OMIM:175850", source="OMIM:175850", source="Orphanet:737"} ! porokeratosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008292
name: punctate palmoplantar keratoderma type 2
def: "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed." [Orphanet:79502]
subset: gard_rare {source="GARD:4439", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79502"}
subset: orphanet_rare {source="Orphanet:79502"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratoderma palmoplantar, punctate type 2" RELATED [GARD:0004439]
synonym: "palmoplantar keratoderma, punctate type II" RELATED [MONDO:Lexical, OMIM:175860]
synonym: "porokeratosis punctata palmaris Et plantaris" RELATED [OMIM:175860]
synonym: "PPKP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175860, Orphanet:79502]
synonym: "PPPP" EXACT ABBREVIATION [Orphanet:79502]
synonym: "punctate palmoplantar hyperkeratosis type 2" EXACT [Orphanet:79502]
synonym: "punctate palmoplantar keratoderma type II" RELATED [DOID:0080213]
synonym: "type 2 punctate PPK" RELATED [GARD:0004439]
xref: DOID:0080213 {source="MONDO:equivalentTo"}
xref: GARD:4439 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:79502", source="Orphanet:79502/attributed", source="Orphanet:79502/ntbt"}
xref: MEDGEN:356886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:175860 {source="Orphanet:79502", source="DOID:0080213", source="MONDO:equivalentTo", source="Orphanet:79502/e"}
xref: Orphanet:79502 {source="MONDO:equivalentTo", source="OMIM:175860"}
xref: SCTID:765096001 {source="MONDO:equivalentTo"}
xref: UMLS:C1867982 {source="MEDGEN:356886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017675 {source="DOID:0080213", source="Orphanet:79502/inferred"} ! punctate palmoplantar keratoderma

[Term]
id: MONDO:0008293
name: porokeratosis 3, disseminated superficial actinic type
subset: gard_rare {source="GARD:9505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Dsap" RELATED [OMIM:175900]
synonym: "DSAP1" RELATED ABBREVIATION [GARD:0009505]
synonym: "POROK3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175900]
synonym: "porokeratosis 3, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:175900]
synonym: "porokeratosis 3, multiple types" RELATED [OMIM:175900]
synonym: "porokeratosis, disseminated superficial actinic 1" RELATED [GARD:0009505]
synonym: "porokeratosis, disseminated superficial actinic, 1" RELATED [OMIM:175900]
xref: GARD:9505 {source="MONDO:GARD"}
xref: MEDGEN:401352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536339 {source="MONDO:equivalentTo"}
xref: OMIM:175900 {source="MONDO:equivalentTo"}
xref: Orphanet:79152 {source="OMIM:175900"}
xref: UMLS:C1867981 {source="MEDGEN:401352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:175900"} ! porokeratosis
is_a: MONDO:0019141 {source="Orphanet:735/btnt"} ! porokeratosis of Mibelli
is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7530 {source="MONDO:mim2gene_medgen"} ! MVK

[Term]
id: MONDO:0008294
name: acute intermittent porphyria
def: "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." [Orphanet:79276]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:729"}
subset: ordo_disorder {source="Orphanet:79276"}
subset: orphanet_rare {source="Orphanet:79276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute intermittent porphyria" EXACT CLINGEN_LABEL []
synonym: "AIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176000]
synonym: "AIP - acute intermittent porphyria" EXACT [DOID:3890]
synonym: "HMBS deficiency" RELATED [GARD:0005732]
synonym: "hydroxymethylbilane synthase deficiency" RELATED [GARD:0005732]
synonym: "PBGD deficiency" RELATED [OMIM:176000]
synonym: "porphobilinogen deaminase deficiency" RELATED [OMIM:176000]
synonym: "porphyria intermittent acute" EXACT [DOID:3890]
synonym: "porphyria, acute intermittent" RELATED [MONDO:Lexical, OMIM:176000]
synonym: "porphyria, acute intermittent, Nonerythroid variant" RELATED [OMIM:176000]
synonym: "porphyria, Chester type" RELATED [OMIM:176000]
synonym: "porphyria, Swedish type" RELATED [OMIM:176000]
synonym: "pyrroloporphyria" EXACT [DOID:3890]
synonym: "UPS deficiency" RELATED [OMIM:176000]
synonym: "uroporphyrinogen synthase deficiency" RELATED [OMIM:176000]
xref: DOID:3890 {source="MONDO:equivalentTo"}
xref: GARD:5732 {source="MONDO:GARD"}
xref: ICD10CM:E80.2 {source="Orphanet:79276", source="Orphanet:79276/attributed", source="Orphanet:79276/ntbt"}
xref: MEDGEN:56452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017118 {source="Orphanet:79276/e", source="MONDO:equivalentTo", source="Orphanet:79276", source="DOID:3890"}
xref: NANDO:1200812 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201263 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84536 {source="MONDO:equivalentTo", source="DOID:3890"}
xref: NORD:729 {source="MONDO:NORD"}
xref: OMIM:176000 {source="Orphanet:79276/e", source="MONDO:equivalentTo", source="Orphanet:79276", source="DOID:3890"}
xref: Orphanet:79276 {source="MONDO:equivalentTo", source="OMIM:176000"}
xref: SCTID:190914003 {source="DOID:3890"}
xref: SCTID:234422006 {source="MONDO:equivalentTo", source="DOID:3890"}
xref: SCTID:90842001 {source="DOID:3890"}
xref: UMLS:C0162565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56452"}
is_a: MONDO:0002520 {source="DOID:3890", source="MESH:D017118", source="Orphanet:79276"} ! hepatic porphyria
is_a: MONDO:0019142 {source="DOID:3890/inferred", source="MESH:D017118/inferred", source="MONDO:Redundant", source="NCIT:C84536", source="Orphanet:79276/inferred"} ! inherited porphyria
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4982 {source="MONDO:mim2gene_medgen"} ! HMBS

[Term]
id: MONDO:0008295
name: sporadic porphyria cutanea tarda
def: "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
comment: Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial
subset: gard_rare {source="GARD:17749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:443057"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired porphyria cutanea tarda" EXACT [MONDO:patterns/acquired]
synonym: "PCT, 'sporadic' type" RELATED [OMIM:176090]
synonym: "PCT, type 1" RELATED [OMIM:176090]
synonym: "porphyria cutanea tarda type I" EXACT [Orphanet:443057]
synonym: "porphyria cutanea tarda, type 1" RELATED [OMIM:176090]
synonym: "porphyria cutanea tarda, type I" RELATED [OMIM:176090]
xref: GARD:17749 {source="MONDO:GARD"}
xref: ICD10CM:E80.1 {source="Orphanet:443057", source="Orphanet:443057/attributed", source="Orphanet:443057/ntbt"}
xref: MEDGEN:357391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566768 {source="MONDO:equivalentTo"}
xref: OMIM:176090 {source="Orphanet:443057", source="MONDO:equivalentTo", source="Orphanet:443057/e"}
xref: Orphanet:101330 {source="OMIM:176090"}
xref: Orphanet:443057 {source="MONDO:equivalentTo"}
xref: SCTID:402479002 {source="MONDO:equivalentTo"}
xref: UMLS:C1867968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357391"}
is_a: MONDO:0015104 {source="MESH:C566768", source="MONDO:Redundant", source="Orphanet:443057"} ! porphyria cutanea tarda
intersection_of: MONDO:0015104 ! porphyria cutanea tarda
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0008296
name: familial porphyria cutanea tarda
def: "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial
subset: gard_rare {source="GARD:17750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:443062"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary porphyria cutanea tarda" EXACT [MONDO:patterns/hereditary]
synonym: "PCT" RELATED ABBREVIATION [OMIM:176100]
synonym: "PCT, 'familial' type" RELATED [OMIM:176100]
synonym: "PCT, type 2" RELATED [OMIM:176100]
synonym: "porphyria cutanea tarda" RELATED [OMIM:176100]
synonym: "porphyria cutanea tarda type II" EXACT [Orphanet:443062]
synonym: "porphyria cutanea tarda, susceptibility to" EXACT [OMIM:176100, OMIM:genemap2]
synonym: "porphyria cutanea tarda, type 2" RELATED [OMIM:176100]
synonym: "porphyria, Hepatocutaneous type" RELATED [OMIM:176100]
synonym: "porphyria, hepatoerythropoietic" RELATED [OMIM:176100]
synonym: "Urod deficiency" RELATED [OMIM:176100]
synonym: "uroporphyrinogen decarboxylase deficiency" RELATED [OMIM:176100]
xref: EFO:0009043 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17750 {source="MONDO:GARD"}
xref: ICD10CM:E80.1 {source="Orphanet:443062", source="Orphanet:443062/attributed", source="Orphanet:443062/ntbt"}
xref: MEDGEN:75669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:176100 {source="Orphanet:443062/e", source="MONDO:equivalentTo", source="Orphanet:443062"}
xref: Orphanet:101330 {source="OMIM:176100"}
xref: Orphanet:443062 {source="MONDO:equivalentTo"}
xref: Orphanet:95159 {source="OMIM:176100", source="MONDO:directSiblingOf"}
xref: SCTID:59229005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268323 {source="MEDGEN:75669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015104 {source="MONDO:Redundant", source="Orphanet:443062"} ! porphyria cutanea tarda
intersection_of: MONDO:0015104 ! porphyria cutanea tarda
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12591 {source="OMIM:176100"} ! UROD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5128" xsd:anyURI

[Term]
id: MONDO:0008297
name: variegate porphyria
def: "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions." [Orphanet:79473]
subset: gard_rare {source="GARD:7848", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1821"}
subset: ordo_disorder {source="Orphanet:79473"}
subset: orphanet_rare {source="Orphanet:79473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "porphyria variegata" RELATED [OMIM:176200]
synonym: "porphyria variegata, susceptibility to" RELATED [OMIM:176200, OMIM:genemap2]
synonym: "porphyria variegate" RELATED [GARD:0007848]
synonym: "porphyria, South African type" RELATED [OMIM:176200]
synonym: "PPOX deficiency" RELATED [OMIM:176200]
synonym: "Protocoproporphyria" EXACT [DOID:4346]
synonym: "protoporphyrinogen oxidase deficiency" EXACT [DOID:4346, OMIM:176200, Orphanet:79473]
synonym: "variegate porphyria" EXACT [OMIM:176200, Orphanet:79473]
synonym: "variegate porphyria, homozygous variant" RELATED [OMIM:176200]
synonym: "VP" RELATED ABBREVIATION [GARD:0007848]
xref: DOID:4346 {source="MONDO:equivalentTo"}
xref: GARD:7848 {source="MONDO:GARD"}
xref: ICD10CM:E80.2 {source="Orphanet:79473/attributed", source="Orphanet:79473/ntbt", source="Orphanet:79473"}
xref: icd11.foundation:1227474618 {source="MONDO:equivalentTo", source="Orphanet:79473"}
xref: MEDGEN:58118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046350 {source="DOID:4346", source="MONDO:equivalentTo"}
xref: NANDO:1200814 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201265 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85219 {source="DOID:4346", source="MONDO:equivalentTo"}
xref: NORD:1821 {source="MONDO:NORD"}
xref: OMIM:176200 {source="Orphanet:79473/e", source="DOID:4346", source="MONDO:equivalentTo", source="Orphanet:79473"}
xref: Orphanet:79473 {source="MONDO:equivalentTo", source="OMIM:176200"}
xref: SCTID:276264004 {source="DOID:4346"}
xref: SCTID:58275005 {source="DOID:4346", source="MONDO:equivalentTo"}
xref: UMLS:C0162532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:58118"}
is_a: MONDO:0002520 {source="DOID:4346", source="MESH:D046350", source="Orphanet:79473"} ! hepatic porphyria
is_a: MONDO:0019142 {source="DOID:4346/inferred", source="MESH:D046350/inferred", source="MONDO:Redundant", source="NCIT:C85219", source="Orphanet:79473/inferred"} ! inherited porphyria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria" xsd:anyURI {source="GARD:0007848"}

[Term]
id: MONDO:0008298
name: postaxial tetramelic oligodactyly
def: "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." [Orphanet:2730]
subset: gard_rare {source="GARD:4065", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2730"}
subset: ordo_malformation_syndrome {source="Orphanet:2730"}
subset: orphanet_rare {source="Orphanet:2730"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "oligodactyly tetramelic postaxial" RELATED [GARD:0004065]
synonym: "postaxial oligodactyly, tetramelic" RELATED [OMIM:176240]
xref: GARD:4065 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:2730/attributed", source="Orphanet:2730/ntbt", source="Orphanet:2730"}
xref: MEDGEN:357380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566767 {source="MONDO:equivalentTo"}
xref: OMIM:176240 {source="Orphanet:2730", source="MONDO:equivalentTo", source="Orphanet:2730/e"}
xref: Orphanet:2730 {source="OMIM:176240", source="MONDO:equivalentTo"}
xref: UMLS:C1867924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357380"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4065/oligodactyly-tetramelic-postaxial" xsd:anyURI {source="GARD:0004065"}

[Term]
id: MONDO:0008299
name: posterior column ataxia
synonym: "Biemond ataxia" RELATED [OMIM:176250]
synonym: "posterior column ataxia" EXACT [OMIM:176250]
xref: MEDGEN:357379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536342 {source="MONDO:equivalentTo"}
xref: OMIM:176250 {source="MONDO:equivalentTo"}
xref: UMLS:C1867923 {source="MEDGEN:357379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536342/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10044/posterior-column-ataxia" xsd:anyURI {source="GARD:0010044"}

[Term]
id: MONDO:0008300
name: Prader-Willi syndrome
def: "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." [Orphanet:739]
subset: gard_rare {source="GARD:5575", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1602"}
subset: ordo_disorder {source="Orphanet:739"}
subset: orphanet_rare {source="Orphanet:739"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED [GARD:0005575]
synonym: "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED DEPRECATED [GARD:0005575]
synonym: "Prader Willi syndrome" EXACT [DOID:11983]
synonym: "Prader-Labhart-Willi syndrome" EXACT [OMIM:176270, Orphanet:739]
synonym: "Prader-Willi syndrome" EXACT [MONDO:Lexical, OMIM:176270]
synonym: "Prader-Willi syndrome chromosome region" RELATED [OMIM:176270]
synonym: "Prader-Willi-Labhart syndrome" EXACT [NCIT:C75463]
synonym: "Prader-Willi-like syndrome associated with chromosome 6" RELATED [OMIM:176270]
synonym: "PWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176270]
synonym: "Willi-Prader syndrome" EXACT [Orphanet:739]
xref: DOID:11983 {source="MONDO:equivalentTo"}
xref: GARD:5575 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:739/inclusion", source="Orphanet:739", source="Orphanet:739/ntbt", source="DOID:11983"}
xref: icd11.foundation:393773440 {source="MONDO:equivalentTo", source="Orphanet:739"}
xref: ICD9:759.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11983"}
xref: MedDRA:10036476 {source="Orphanet:739", source="Orphanet:739/e"}
xref: MEDGEN:46057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011218 {source="MONDO:equivalentTo", source="Orphanet:739", source="DOID:11983", source="Orphanet:739/e"}
xref: NANDO:1200678 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200411 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75463 {source="MONDO:equivalentTo", source="DOID:11983"}
xref: NORD:1602 {source="MONDO:NORD"}
xref: OMIM:176270 {source="MONDO:equivalentTo", source="Orphanet:739", source="DOID:11983", source="Orphanet:739/e"}
xref: Orphanet:739 {source="OMIM:176270", source="MONDO:equivalentTo"}
xref: SCTID:205794007 {source="DOID:11983"}
xref: SCTID:89392001 {source="MONDO:equivalentTo", source="DOID:11983"}
xref: UMLS:C0032897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:46057"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75463"} ! syndromic disease
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
is_a: MONDO:0015160 {source="Orphanet:739"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0019040 {source="DOID:11983", source="MESH:D011218"} ! chromosomal disorder
is_a: MONDO:0100038 {source="https://orcid.org/0000-0002-6733-369X"} ! complex neurodevelopmental disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome" xsd:anyURI {source="GARD:0005575"}

[Term]
id: MONDO:0008301
name: Guttmacher syndrome
def: "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." [Orphanet:2957]
subset: gard_rare {source="GARD:4470", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2957"}
subset: ordo_malformation_syndrome {source="Orphanet:2957"}
subset: orphanet_rare {source="Orphanet:2957"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [GARD:0004470]
synonym: "Guttmacher syndrome" EXACT [OMIM:176305]
synonym: "preaxial deficiency, postaxial polydactyly and hypospadias" RELATED [GARD:0004470]
synonym: "preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [OMIM:176305]
synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [Orphanet:2957]
xref: DOID:0111544 {source="MONDO:equivalentTo"}
xref: GARD:4470 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2957", source="Orphanet:2957/attributed", source="Orphanet:2957/ntbt"}
xref: MEDGEN:401304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538278 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="Orphanet:2957"}
xref: OMIM:176305 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source="Orphanet:2957"}
xref: Orphanet:2957 {source="MONDO:equivalentTo", source="OMIM:176305"}
xref: SCTID:722452004 {source="MONDO:equivalentTo"}
xref: UMLS:C1867801 {source="MEDGEN:401304", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5102 {source="MONDO:mim2gene_medgen"} ! HOXA13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008302
name: central precocious puberty 1
def: "Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central precocious puberty caused by mutation in KISS1R" EXACT [MONDO:design_pattern]
synonym: "CPPB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176400]
synonym: "KISS1R central precocious puberty" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "precocious puberty, central, 1" EXACT [MONDO:Lexical, OMIM:176400]
synonym: "precocious puberty, central, type 1" EXACT [MONDORULE:1, OMIM:176400]
xref: DOID:0112310 {source="MONDO:equivalentTo"}
xref: MEDGEN:812209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:176400 {source="MONDO:equivalentTo"}
xref: Orphanet:759 {source="OMIM:176400"}
xref: UMLS:C3805879 {source="MEDGEN:812209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000088 {source="MONDO:Redundant", source="OMIM:176400"} ! precocious puberty
is_a: MONDO:0019165 {source="MONDO:Redundant", source="Orphanet:759/btnt"} ! central precocious puberty
intersection_of: MONDO:0019165 ! central precocious puberty
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 ! KISS1R
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 {source="MONDO:mim2gene_medgen"} ! KISS1R

[Term]
id: MONDO:0008303
name: familial male-limited precocious puberty
def: "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height." [Orphanet:3000]
subset: gard_rare {source="GARD:4475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3000"}
subset: orphanet_rare {source="Orphanet:3000"}
subset: rare
synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT [Orphanet:3000]
synonym: "familial Testotoxicosis (subtype)" RELATED [GARD:0004475]
synonym: "FMPP" EXACT ABBREVIATION [Orphanet:3000]
synonym: "Leydig cell adenoma, somatic, with male-limited precocious puberty" RELATED [OMIM:176410]
synonym: "leydig cell adenoma, somatic, with precocious puberty" EXACT [OMIM:176410, OMIM:genemap2]
synonym: "LHCGR peripheral precocious puberty" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "male-limited precocious puberty" EXACT [Orphanet:3000]
synonym: "peripheral precocious puberty caused by mutation in LHCGR" EXACT []
synonym: "precocious puberty, male" EXACT [OMIM:176410, OMIM:genemap2]
synonym: "precocious puberty, male limited" RELATED [GARD:0004475]
synonym: "precocious puberty, male-limited" RELATED [OMIM:176410]
synonym: "pubertas praecox" BROAD [GARD:0004475]
synonym: "sexual precocity, familial, gonadotropin-independent" RELATED [OMIM:176410]
synonym: "testotoxicosis" EXACT [GARD:0004475, Orphanet:3000]
synonym: "testotoxicosis, familial" EXACT [OMIM:176410]
xref: DOID:0111545 {source="MONDO:equivalentTo"}
xref: GARD:4475 {source="MONDO:GARD"}
xref: ICD10CM:E30.1 {source="Orphanet:3000/attributed", source="Orphanet:3000/ntbt", source="Orphanet:3000"}
xref: MedDRA:10063654 {source="Orphanet:3000/e", source="Orphanet:3000"}
xref: MedDRA:10063656 {source="Orphanet:3000/e", source="Orphanet:3000"}
xref: MEDGEN:87444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536961 {source="Orphanet:3000/e", source="Orphanet:3000"}
xref: OMIM:176410 {source="Orphanet:3000/e", source="MONDO:equivalentTo", source="Orphanet:3000"}
xref: Orphanet:3000 {source="MONDO:equivalentTo", source="OMIM:176410"}
xref: SCTID:237818003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87444"}
is_a: MONDO:0015791 {source="Orphanet:3000"} ! peripheral precocious puberty
intersection_of: MONDO:0015791 ! peripheral precocious puberty
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6585 ! LHCGR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6585 {source="MONDO:mim2gene_medgen"} ! LHCGR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008304
name: premature chromatid separation trait
synonym: "PCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176430]
synonym: "premature chromatid separation trait" EXACT [MONDO:Lexical, OMIM:176430, OMIM:genemap2]
synonym: "total premature chromatid separation trait" RELATED [OMIM:176430]
xref: MEDGEN:400517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:176430 {source="MONDO:equivalentTo"}
xref: UMLS:C1864389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400517"}
is_a: MONDO:0003847 {source="EFO:0009077", source="OMIM:176430"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1149 {source="MONDO:mim2gene_medgen"} ! BUB1B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008305
name: Currarino triad
def: "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." [Orphanet:1552]
subset: gard_rare {source="GARD:1626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1552"}
subset: ordo_malformation_syndrome {source="Orphanet:1552"}
subset: orphanet_rare {source="Orphanet:1552"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CURRARINO syndrome" RELATED [OMIM:176450]
synonym: "Currarino syndrome" EXACT [Orphanet:1552]
synonym: "Currarino triad" EXACT CLINGEN_LABEL [OMIM:176450]
synonym: "partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation" RELATED [GARD:0001626]
synonym: "sacral agenesis syndrome" RELATED [OMIM:176450]
synonym: "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" RELATED [OMIM:176450]
synonym: "Scra1" RELATED [OMIM:176450]
xref: DOID:0111546 {source="MONDO:equivalentTo"}
xref: GARD:1626 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1552", source="Orphanet:1552/attributed", source="Orphanet:1552/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:323460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536221 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"}
xref: OMIM:176450 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"}
xref: Orphanet:1552 {source="MONDO:equivalentTo", source="OMIM:176450"}
xref: SCTID:413936007 {source="MONDO:equivalentTo"}
xref: UMLS:C1531773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323460"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0018230 {source="PMID:33836786", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:33836786", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4979 {source="MONDO:mim2gene_medgen"} ! MNX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008306
name: ABri amyloidosis
def: "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." [DOID:0070029]
subset: gard_rare {source="GARD:8344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97345"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABri amyloidosis" EXACT [GARD:0008344]
synonym: "Bri amyloidosis" RELATED [GARD:0008344]
synonym: "cerebral amyloid angiopathy, British type" EXACT [DOID:0070029]
synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 1" RELATED [OMIM:176500]
synonym: "cerebral amyloid angiopathy, ITM2B-related, type 1" EXACT [MONDORULE:1, OMIM:176500]
synonym: "dementia familial British" RELATED [GARD:0008344]
synonym: "dementia, familial British" RELATED [OMIM:176500]
synonym: "familial British dementia" EXACT [DOID:0070029]
synonym: "familial dementia, British type" EXACT [Orphanet:97345]
synonym: "FBD" EXACT ABBREVIATION [DOID:0070029, GARD:0008344]
synonym: "ITM2B-related cerebral amyloid angiopathy 1" RELATED [DOID:0070029]
synonym: "presenile dementia with spastic ataxia" EXACT [DOID:0070029, GARD:0008344, OMIM:176500]
xref: DOID:0070029 {source="MONDO:equivalentTo"}
xref: GARD:8344 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"}
xref: ICD10EXP:I68.0* {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"}
xref: MEDGEN:1677186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538208 {source="Orphanet:97345", source="MONDO:equivalentTo", source="Orphanet:97345/e"}
xref: OMIM:176500 {source="Orphanet:97345", source="MONDO:equivalentTo", source="DOID:0070029", source="Orphanet:97345/e", source="GARD:0008344"}
xref: Orphanet:97345 {source="MONDO:equivalentTo", source="GARD:0008344", source="OMIM:176500"}
xref: UMLS:C5190835 {source="MEDGEN:1677186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005620 {source="DC-OMIM:176500", source="DOID:0070029", source="MESH:C538208/inferred"} ! cerebral amyloid angiopathy
is_a: MONDO:0018591 {source="Orphanet:97345"} ! ITM2B amyloidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6174 {source="MONDO:mim2gene_medgen"} ! ITM2B
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8344/dementia-familial-british" xsd:anyURI {source="GARD:0008344"}

[Term]
id: MONDO:0008307
name: presenile dementia, Kraepelin type
synonym: "catatonia of Kraepelin" RELATED [GARD:0010032]
synonym: "Kraepelin disease" RELATED [GARD:0010032]
synonym: "presenile dementia, Kraepelin type" EXACT [OMIM:176600]
xref: MEDGEN:356847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535273 {source="MONDO:equivalentTo"}
xref: OMIM:176600 {source="MONDO:equivalentTo"}
xref: UMLS:C1867772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356847"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type" xsd:anyURI {source="GARD:0010032"}

[Term]
id: MONDO:0008308
name: priapism, familial idiopathic
synonym: "familial idiopathic priapism" RELATED [GARD:0010016]
synonym: "priapism, familial idiopathic" EXACT [OMIM:176620]
xref: MEDGEN:356846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531791 {source="MONDO:equivalentTo"}
xref: OMIM:176620 {source="MONDO:equivalentTo"}
xref: UMLS:C1867771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356846"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0008309
name: primary release disorder of platelets
subset: gard_rare {source="GARD:10357", source="MONDO:GARD"}
subset: rare
synonym: "bleeding disorder due to primary defects in platelet release mechanism" RELATED [GARD:0010357]
synonym: "primary release disorder of platelets" EXACT [OMIM:176630]
xref: GARD:10357 {source="MONDO:GARD"}
xref: MEDGEN:356845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566759 {source="MONDO:equivalentTo"}
xref: OMIM:176630 {source="MONDO:equivalentTo"}
xref: UMLS:C1867770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356845"}
is_a: MONDO:0000009 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets" xsd:anyURI {source="GARD:0010357"}

[Term]
id: MONDO:0008310
name: Hutchinson-Gilford progeria syndrome
def: "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." [Orphanet:740]
comment: Editor note: check whether subset prototype_pattern is appropriate
subset: gard_rare {source="GARD:7467", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1257"}
subset: ordo_disorder {source="Orphanet:740"}
subset: orphanet_rare {source="Orphanet:740"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "HGPS" EXACT ABBREVIATION [DOID:3911, MONDO:Lexical, OMIM:176670, Orphanet:740]
synonym: "Hutchinson Gilford progeria syndrome" RELATED [GARD:0007467]
synonym: "Hutchinson Gilford syndrome" EXACT [DOID:3911]
synonym: "Hutchinson-Gilford disease" EXACT [DOID:3911, NCIT:C34951]
synonym: "Hutchinson-Gilford progeria" EXACT [OMIM:176670, OMIM:genemap2]
synonym: "Hutchinson-Gilford progeria syndrome" EXACT [DOID:3911, MONDO:Lexical, OMIM:176670]
synonym: "premature senility syndrome" EXACT [NCIT:C34951]
synonym: "progeria" BROAD [OMIM:176670, Orphanet:740]
synonym: "progeria syndrome, childhood-onset" RELATED [OMIM:176670]
xref: DOID:3911 {source="MONDO:equivalentTo"}
xref: GARD:7467 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:740/ntbt", source="DOID:3911", source="Orphanet:740/inclusion", source="Orphanet:740"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10036794 {source="Orphanet:740/e", source="Orphanet:740"}
xref: MEDGEN:46123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011371 {source="Orphanet:740/e", source="DOID:3911", source="Orphanet:740"}
xref: NANDO:1201007 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200833 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34951 {source="MONDO:equivalentTo", source="DOID:3911"}
xref: NORD:1257 {source="MONDO:NORD"}
xref: OMIM:176670 {source="Orphanet:740/e", source="MONDO:equivalentTo", source="DOID:3911", source="Orphanet:740"}
xref: Orphanet:740 {source="MONDO:equivalentTo", source="OMIM:176670"}
xref: SCTID:190590004 {source="DOID:3911"}
xref: SCTID:238869000 {source="DOID:3911"}
xref: SCTID:238870004 {source="MONDO:equivalentTo", source="DOID:3911"}
xref: SCTID:46238000 {source="DOID:3911"}
xref: UMLS:C0033300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:46123"}
is_a: MONDO:0002254 {source="NCIT:C34951"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:3911", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015333 {source="Orphanet:740"} ! progeroid syndrome
is_a: MONDO:0019303 {source="Orphanet:740"} ! premature aging syndrome
is_a: MONDO:0019707 {source="Orphanet:740", source="PMID:31633310"} ! primary osteolysis
is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:176670", source="Orphanet:740"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7467/progeria" xsd:anyURI {source="GARD:0007467"}

[Term]
id: MONDO:0008311
name: progeria-short stature-pigmented nevi syndrome
def: "Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat." [Orphanet:2959]
subset: gard_rare {source="GARD:4494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1473"}
subset: ordo_disorder {source="Orphanet:2959"}
subset: ordo_malformation_syndrome {source="Orphanet:2959"}
subset: orphanet_rare {source="Orphanet:2959"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mulvihill-Smith Syndrome" EXACT [NORD:1473]
synonym: "Mulvihill-Smith syndrome" EXACT [OMIM:176690, Orphanet:2959]
synonym: "progeroid short stature with pigmented nevi" RELATED [OMIM:176690]
xref: GARD:4494 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536422 {source="Orphanet:2959/e", source="MONDO:equivalentTo", source="Orphanet:2959"}
xref: NORD:1473 {source="MONDO:NORD"}
xref: OMIM:176690 {source="Orphanet:2959/e", source="MONDO:equivalentTo", source="Orphanet:2959"}
xref: Orphanet:2959 {source="OMIM:176690", source="MONDO:equivalentTo"}
xref: SCTID:399947002 {source="MONDO:equivalentTo"}
xref: UMLS:C1261128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224702"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:2959", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:2959", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI

[Term]
id: MONDO:0008312
name: autosomal dominant prognathism
def: "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." [MESH:D008313]
subset: gard_rare {source="GARD:10319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2964"}
subset: ordo_malformation_syndrome {source="Orphanet:2964"}
subset: orphanet_rare {source="Orphanet:2964"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "'Habsburg jaw'" RELATED [OMIM:176700]
synonym: "'Hapsburg jaw'" RELATED [OMIM:176700]
synonym: "Habsburg jaw" RELATED [GARD:0010319]
synonym: "Hapsburg jaw" RELATED [GARD:0010319]
synonym: "prognathism mandibular" RELATED [GARD:0010319]
synonym: "prognathism, mandibular" RELATED [OMIM:176700]
xref: GARD:10319 {source="MONDO:GARD"}
xref: MEDGEN:98316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008313 {source="MONDO:equivalentTo"}
xref: OMIM:176700 {source="MONDO:equivalentTo", source="Orphanet:2964", source="Orphanet:2964/e"}
xref: Orphanet:2964 {source="MONDO:equivalentTo", source="OMIM:176700"}
xref: UMLS:C0399526 {source="MEDGEN:98316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2964"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2964", source="Orphanet:2964/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008313
name: pelvic organ prolapse, susceptibility to
subset: predisposition
synonym: "pelvic organ prolapse, susceptibility to" EXACT [OMIM:176780]
synonym: "pelvic organ prolapse, susceptibility to, 1" RELATED [OMIM:176780]
synonym: "prolapse of vagina and rectum" RELATED [OMIM:176780]
synonym: "rectal prolapse" RELATED [OMIM:176780]
synonym: "vaginal prolapse" RELATED [OMIM:176780]
xref: MEDGEN:442887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:176780 {source="MONDO:equivalentTo"}
xref: UMLS:C2752090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442887"}
is_a: MONDO:0020573 {source="OMIM:176780", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0000082 {source="DC-OMIM:176780", source="https://orcid.org/0000-0001-5208-3432"} ! pelvic organ prolapse
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0000082 {source="OMIM:176780"} ! pelvic organ prolapse
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0008314
name: pronation-supination of the forearm, impairment of
synonym: "pronation-supination of the forearm, impairment of" EXACT [OMIM:176800]
xref: MEDGEN:356828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566757 {source="MONDO:equivalentTo"}
xref: OMIM:176800 {source="MONDO:equivalentTo"}
xref: UMLS:C1867726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356828"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008315
name: prostate cancer
def: "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." [NCIT:C7378]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of prostate gland" EXACT [MONDO:patterns/cancer]
synonym: "hereditary prostate cancer" NARROW [DOID:10283]
synonym: "malignant neoplasm of prostate" EXACT [NCIT:C7378]
synonym: "malignant neoplasm of prostate gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the prostate" EXACT [NCIT:C7378]
synonym: "malignant prostate gland neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant prostate neoplasm" EXACT [NCIT:C7378]
synonym: "malignant prostate tumor" EXACT [NCIT:C7378]
synonym: "malignant prostate tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of prostate" EXACT [NCIT:C7378]
synonym: "malignant tumor of the prostate" EXACT [DOID:10283, NCIT:C7378]
synonym: "malignant tumour of prostate" EXACT OMO:0003005 []
synonym: "malignant tumour of the prostate" EXACT OMO:0003005 []
synonym: "NGP - new growth of prostate" EXACT [DOID:10283]
synonym: "prostate cancer, familial" NARROW [DOID:10283, MESH:C537243]
synonym: "prostate gland cancer" EXACT [MONDO:patterns/location]
synonym: "prostate neoplasm" BROAD [DOID:10283]
synonym: "prostatic cancer" EXACT [DOID:10283]
synonym: "prostatic neoplasm" BROAD [DOID:10283]
synonym: "tumor of the prostate" BROAD [DOID:10283, NCIT:C3343]
synonym: "tumour of the prostate" BROAD OMO:0003005 []
xref: DOID:10283 {source="MONDO:equivalentTo"}
xref: ICD10CM:C61 {source="Orphanet:1331/attributed", source="Orphanet:1331/ntbt", source="Orphanet:1331", source="DOID:10283"}
xref: ICD9:185 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10283"}
xref: MEDGEN:138169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011471 {source="MONDO:equivalentTo", source="DOID:10283"}
xref: NCIT:C3343 {source="DOID:10283"}
xref: NCIT:C7378 {source="MONDO:equivalentTo", source="DOID:10283"}
xref: SCTID:126906006 {source="DOID:10283"}
xref: SCTID:363448003 {source="DOID:10283"}
xref: SCTID:399068003 {source="MONDO:equivalentTo", source="DOID:10283"}
xref: SCTID:93974005 {source="DOID:10283"}
xref: UMLS:C0376358 {source="MEDGEN:138169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003105 {source="DOID:10283", source="MONDO:Redundant", source="NCIT:C7378/inferred"} ! prostate disorder
is_a: MONDO:0005836 {source="DOID:10283", source="NCIT:C7378"} ! male reproductive organ cancer
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C7378"} ! prostate neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002367 ! prostate gland
relationship: excluded_subClassOf MONDO:0017130 {source="Orphanet:1331", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic urogenital tumor

[Term]
id: MONDO:0008316
name: thrombophilia due to protein C deficiency, autosomal dominant
subset: gard_rare {source="GARD:18574", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Proc deficiency, autosomal dominant" RELATED [OMIM:176860]
synonym: "Protein C deficiency, acquired" RELATED [OMIM:176860]
synonym: "Protein C deficiency, autosomal dominant" RELATED [OMIM:176860]
synonym: "THPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176860]
synonym: "thrombophilia 3 due to protein C deficiency, autosomal dominant" EXACT [OMIM:176860, OMIM:genemap2]
synonym: "thrombophilia due to PROTEIN C deficiency, autosomal dominant" RELATED [OMIM:176860]
synonym: "thrombophilia due to protein C deficiency, autosomal dominant" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:176860]
xref: DOID:0111909 {source="MONDO:equivalentTo"}
xref: GARD:18574 {source="MONDO:GARD"}
xref: MEDGEN:436138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:176860 {source="MONDO:equivalentTo"}
xref: Orphanet:745 {source="OMIM:176860"}
xref: UMLS:C2674321 {source="MEDGEN:436138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019145 {source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency
is_a: MONDO:0100240 {source="MONDO:Redundant", source="OMIM:176860"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9451 {source="MONDO:mim2gene_medgen"} ! PROC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008317
name: proteolytic capacity of plasma
synonym: "proteolytic capacity of plasma" EXACT [OMIM:176900]
xref: MEDGEN:401269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:176900 {source="MONDO:equivalentTo"}
xref: UMLS:C1867621 {source="MEDGEN:401269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008318
name: Proteus syndrome
def: "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." [Orphanet:744]
subset: gard_rare {source="GARD:7475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1622"}
subset: ordo_disorder {source="Orphanet:744"}
subset: ordo_malformation_syndrome {source="Orphanet:744"}
subset: orphanet_rare {source="Orphanet:744"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716, OMIM:176920]
synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716, OMIM:176920]
synonym: "hemihypertrophy and macrocephaly" RELATED [MESH:C537716]
synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" RELATED [MESH:C537716]
synonym: "partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome" EXACT [Orphanet:744]
synonym: "Proteus syndrome" EXACT [OMIM:176920]
synonym: "proteus syndrome, somatic" EXACT [OMIM:176920, OMIM:genemap2]
synonym: "Wiedemann's syndrome" EXACT [DOID:13482]
xref: DOID:13482 {source="MONDO:equivalentTo"}
xref: GARD:7475 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:744", source="Orphanet:744/attributed", source="Orphanet:744/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016715 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e"}
xref: NCIT:C85032 {source="DOID:13482", source="MONDO:equivalentTo"}
xref: NORD:1622 {source="MONDO:NORD"}
xref: OMIM:176920 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e"}
xref: Orphanet:744 {source="MONDO:equivalentTo", source="OMIM:176920"}
xref: SCTID:23150001 {source="DOID:13482", source="MONDO:equivalentTo"}
xref: SCTID:394527003 {source="DOID:13482"}
xref: UMLS:C0085261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39008"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0017623 {source="Orphanet:744"} ! PTEN hamartoma tumor syndrome
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0019716 {source="Orphanet:744"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:744", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/391 {source="MONDO:mim2gene_medgen"} ! AKT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008319
name: protoporphyria, erythropoietic, 1
def: "Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21." [OMIM:177000]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EPP" RELATED ABBREVIATION [GARD:0004527, MONDO:Lexical, OMIM:177000]
synonym: "EPP1" EXACT ABBREVIATION [OMIM:177000]
synonym: "erythrohepatic protoporphyria" RELATED [GARD:0004527, OMIM:177000]
synonym: "erythropoietic protoporphyria" BROAD [NCIT:C84698]
synonym: "ferrochelatase deficiency" EXACT [GARD:0004527, OMIM:177000]
synonym: "heme synthetase deficiency" EXACT [GARD:0004527, OMIM:177000]
synonym: "protoporphyria, erythropoietic" BROAD [MONDO:Lexical, OMIM:177000]
synonym: "protoporphyria, erythropoietic, 1" EXACT [OMIM:177000]
xref: MEDGEN:1643471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200815 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201266 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84698 {source="MONDO:equivalentTo"}
xref: OMIM:177000 {source="GARD:0004527", source="MONDO:equivalentTo"}
xref: Orphanet:79278 {source="GARD:0004527", source="OMIM:177000", source="MONDO:directSiblingOf"}
xref: UMLS:C4692546 {source="MEDGEN:1643471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019142 {source="MONDO:Redundant", source="NCIT:C84698"} ! inherited porphyria
is_a: MONDO:0019263 {source="DC-OMIM:177000", source="OMIM:177000"} ! autosomal erythropoietic protoporphyria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3647 {source="MONDO:mim2gene_medgen"} ! FECH

[Term]
id: MONDO:0008320
name: Protrusio acetabuli
synonym: "PROTRUSIO acetabuli" RELATED [OMIM:177050]
synonym: "Protrusio acetabuli" EXACT [MONDO:ambiguous]
synonym: "Protrusio acetabuli (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0003179 {source="MONDO:otherHierarchy"}
xref: MEDGEN:98369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:177050 {source="MONDO:equivalentTo"}
xref: SCTID:59606006 {source="MONDO:equivalentTo"}
xref: UMLS:C0409495 {source="MEDGEN:98369", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "Protrusio acetabuli (disease)" xsd:string

[Term]
id: MONDO:0008321
name: pruritus, hereditary localized
synonym: "pruritus, hereditary localized" EXACT [OMIM:177100]
xref: MEDGEN:356792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566754 {source="MONDO:equivalentTo"}
xref: OMIM:177100 {source="MONDO:equivalentTo"}
xref: UMLS:C1867499 {source="MEDGEN:356792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature HP:0000989 ! Pruritus

[Term]
id: MONDO:0008322
name: pseudoachondroplasia
def: "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." [Orphanet:750]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4540", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1625"}
subset: ordo_disorder {source="Orphanet:750"}
subset: orphanet_rare {source="Orphanet:750"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PSACH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177170]
synonym: "pseudoachondroplasia" EXACT CLINGEN_LABEL [DOID:0080047, MONDO:Lexical, OMIM:177170]
synonym: "Pseudoachondroplastic dysplasia" EXACT [OMIM:177170, Orphanet:750]
synonym: "pseudoachondroplastic dysplasia" EXACT [DOID:0080047]
synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia" EXACT [Orphanet:750]
synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" RELATED [GARD:0004540]
synonym: "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC" EXACT [DOID:0080047]
synonym: "spondyloepiphyseal dysplasia, Pseudoachondroplastic" RELATED [OMIM:177170]
xref: DOID:0080047 {source="MONDO:equivalentTo"}
xref: GARD:4540 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:750/attributed", source="Orphanet:750/ntbt", source="Orphanet:750"}
xref: icd11.foundation:1192649257 {source="MONDO:equivalentTo", source="Orphanet:750"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535819 {source="Orphanet:750/e", source="MONDO:equivalentTo", source="Orphanet:750"}
xref: NANDO:2201018 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118635 {source="MONDO:equivalentTo"}
xref: NORD:1625 {source="MONDO:NORD"}
xref: OMIM:177170 {source="Orphanet:750/e", source="MONDO:equivalentTo", source="DOID:0080047", source="Orphanet:750"}
xref: Orphanet:750 {source="OMIM:177170", source="MONDO:equivalentTo"}
xref: SCTID:22567005 {source="MONDO:equivalentTo"}
xref: UMLS:C0410538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98378"}
is_a: MONDO:0005516 {source="DOID:0080047", source="MESH:C535819/inferred"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 {source="MONDO:mim2gene_medgen"} ! COMP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia" xsd:anyURI {source="GARD:0004540"}

[Term]
id: MONDO:0008323
name: Liddle syndrome
def: "A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone." [Orphanet:526]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2034"}
subset: ordo_disorder {source="Orphanet:526"}
subset: orphanet_rare {source="Orphanet:526"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Liddle syndrome" EXACT [MONDO:Lexical, OMIM:177200]
synonym: "Liddle's syndrome" EXACT [DOID:0050477]
synonym: "LIDLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177200]
synonym: "pseudoaldosteronism" EXACT [DOID:0050477, OMIM:177200, Orphanet:526]
synonym: "pseudohyperaldosteronism type 1" NARROW [Orphanet:526]
xref: DOID:0050477 {source="MONDO:equivalentTo"}
xref: GARD:7381 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:526/attributed", source="Orphanet:526/ntbt", source="Orphanet:526"}
xref: MedDRA:10037113 {source="Orphanet:526", source="Orphanet:526/e"}
xref: MedDRA:10052313 {source="Orphanet:526", source="Orphanet:526/e"}
xref: MEDGEN:67439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056929 {source="Orphanet:526", source="DOID:0050477", source="MONDO:equivalentTo", source="Orphanet:526/e"}
xref: NANDO:2100131 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200363 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84827 {source="DOID:0050477", source="MONDO:equivalentTo"}
xref: NORD:2034 {source="MONDO:NORD"}
xref: OMIMPS:177200 {source="MONDO:equivalentTo"}
xref: Orphanet:526 {source="MONDO:equivalentTo", source="OMIM:177200"}
xref: SCTID:190901004 {source="DOID:0050477"}
xref: SCTID:237493003 {source="DOID:0050477"}
xref: SCTID:707747007 {source="MONDO:equivalentTo"}
xref: SCTID:707749005 {source="DOID:0050477"}
xref: SCTID:71275003 {source="DOID:0050477"}
xref: UMLS:C0221043 {source="MEDGEN:67439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84827"} ! syndromic disease
is_a: MONDO:0006510 {source="DOID:0050477", source="MESH:D056929"} ! renal tubular transport disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:177200"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome" xsd:anyURI {source="GARD:0007381"}

[Term]
id: MONDO:0008324
name: pseudoarthrogryposis
synonym: "ankylosis at elbow and knee" RELATED [OMIM:177300]
synonym: "hereditary congenital rigidity of elbows and knees" RELATED [OMIM:177300]
synonym: "pseudoarthrogryposis" EXACT [OMIM:177300]
xref: MEDGEN:356790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566753 {source="MONDO:equivalentTo"}
xref: OMIM:177300 {source="MONDO:equivalentTo"}
xref: UMLS:C1867485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356790"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008325
name: Pseudoatrophoderma colli
synonym: "Pseudoatrophoderma colli" EXACT [OMIM:177350]
xref: MEDGEN:96061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562909 {source="MONDO:equivalentTo"}
xref: OMIM:177350 {source="MONDO:equivalentTo"}
xref: SCTID:238840009 {source="MONDO:equivalentTo"}
xref: UMLS:C0406561 {source="MEDGEN:96061", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008326
name: obsolete pseudocholinesterase, increase in plasma level of
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "pseudocholinesterase, increase in plasma level OF" RELATED [OMIM:177600]
xref: OMIM:177600 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008327
name: exfoliation syndrome
def: "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma." [NCIT:C129025]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pseudoexfoliation glaucoma" EXACT [DOID:13641, ICD9CM:365.52]
synonym: "pseudoexfoliation syndrome" EXACT [DOID:13641, Orphanet:529819]
synonym: "XFG" EXACT ABBREVIATION [NCIT:C129025]
synonym: "XFS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:529819]
xref: DOID:13641 {source="EFO:0004235", source="MONDO:equivalentTo"}
xref: EFO:0004235 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:365.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13641"}
xref: MEDGEN:60133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017889 {source="EFO:0004235", source="MONDO:equivalentTo", source="DOID:13641"}
xref: NCIT:C129025 {source="MONDO:equivalentTo"}
xref: Orphanet:529819 {source="MONDO:equivalentObsolete"}
xref: SCTID:111514006 {source="MONDO:equivalentTo", source="DOID:13641"}
xref: SCTID:44219007 {source="DOID:13641"}
xref: UMLS:C0206368 {source="MEDGEN:60133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001554 {source="DOID:13641"} ! phacogenic glaucoma
is_a: MONDO:0002254 {source="NCIT:C129025"} ! syndromic disease
is_a: MONDO:0002289 {source="DOID:13641", source="MESH:D017889"} ! iris disorder
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6665 {source="MONDO:mim2gene_medgen", source="PMID:31563608"} ! LOXL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0008328
name: glaucoma 1, open angle, P
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 1, open angle, P" EXACT [MONDO:Lexical, OMIM:177700]
synonym: "glaucoma 1, open angle, type P" EXACT [MONDORULE:1, OMIM:177700]
synonym: "GLC1P" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177700]
xref: MEDGEN:854866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566748 {source="MONDO:equivalentTo"}
xref: OMIM:177700 {source="MONDO:equivalentTo"}
xref: UMLS:C3888338 {source="MONDO:equivalentTo", source="MEDGEN:854866", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005338 ! open-angle glaucoma

[Term]
id: MONDO:0008329
name: autosomal dominant pseudohypoaldosteronism type 1
def: "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." [Orphanet:171871]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:171871"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant PHA 1" EXACT [DOID:0060855]
synonym: "autosomal dominant pseudohypoaldosteronism type 1" EXACT CLINGEN_LABEL [Orphanet:171871]
synonym: "PHA I, autosomal dominant" RELATED [OMIM:177735]
synonym: "PHA1A" EXACT ABBREVIATION [DOID:0060855, MONDO:Lexical, OMIM:177735]
synonym: "pseudohypoaldosteronism type 1 autosomal dominant" RELATED [GARD:0009145]
synonym: "pseudohypoaldosteronism type 1, dominant" RELATED [GARD:0009145]
synonym: "pseudohypoaldosteronism type i, autosomal dominant" EXACT [OMIM:177735, OMIM:genemap2]
synonym: "pseudohypoaldosteronism, type I, autosomal dominant" RELATED [MONDO:Lexical, OMIM:177735]
synonym: "renal PHA1" RELATED [GARD:0009145]
synonym: "renal pseudohypoaldosteronism type 1" RELATED [GARD:0009145]
xref: DOID:0060855 {source="MONDO:equivalentTo"}
xref: GARD:9145 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="DOID:0060855", source="Orphanet:171871", source="Orphanet:171871/attributed", source="Orphanet:171871/ntbt"}
xref: MEDGEN:260623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011546 {source="DOID:0060855"}
xref: NCIT:C126810 {source="MONDO:equivalentTo"}
xref: OMIM:177735 {source="MONDO:equivalentTo", source="DOID:0060855", source="Orphanet:171871", source="Orphanet:171871/e"}
xref: Orphanet:171871 {source="MONDO:equivalentTo", source="OMIM:177735"}
xref: Orphanet:756 {source="DOID:0060855", source="OMIM:177735"}
xref: UMLS:C1449842 {source="MEDGEN:260623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019161 {source="Orphanet:171871"} ! pseudohypoaldosteronism type 1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7979 {source="MONDO:mim2gene_medgen"} ! NR3C2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1" xsd:anyURI {source="GARD:0009145"}

[Term]
id: MONDO:0008330
name: pseudomonilethrix
synonym: "pseudomonilethrix" EXACT [OMIM:177750]
xref: MEDGEN:96595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562988 {source="MONDO:equivalentTo"}
xref: OMIM:177750 {source="MONDO:equivalentTo"}
xref: SCTID:254229006 {source="MONDO:equivalentTo"}
xref: UMLS:C0432346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96595"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008331
name: obsolete pseudopapilledema
def: "OBSOLETE. Apparent optic disk swelling in the absence of increased intracranial pressure." []
comment: This is a phenotypic feature and belongs in HPO.
subset: ordo_group_of_disorders {source="Orphanet:519339"}
synonym: "crowded optic disk" RELATED []
synonym: "obsolete pseudopapilledema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pseudopapilledema" EXACT [MONDO:ambiguous, OMIM:177800]
xref: DOID:1392 {source="MONDO:obsoleteEquivalent"}
xref: GARD:22114 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:377.24 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1392"}
xref: MESH:C562401 {source="MONDO:obsoleteEquivalent", source="DOID:1392"}
xref: OMIM:177800 {source="MONDO:obsoleteEquivalent", source="DOID:1392"}
xref: Orphanet:519339 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:57138009 {source="MONDO:obsoleteEquivalent", source="DOID:1392"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/381" xsd:anyURI
property_value: IAO:0000589 "obsolete pseudopapilledema (disease)" xsd:string
is_obsolete: true
consider: HP:0000538 {source="MONDO:otherHierarchy"}

[Term]
id: MONDO:0008332
name: platelet-type von Willebrand disease
def: "A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." [https://orcid.org/0000-0001-5208-3432, Orphanet:52530]
comment: Editor note: check relationship to vWD
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52530"}
subset: orphanet_rare {source="Orphanet:52530"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT3" EXACT ABBREVIATION [DOID:0111056]
synonym: "bleeding disorder, Platelet-type, 3" RELATED [OMIM:177820]
synonym: "platelet type-von Willebrand disease" EXACT [DOID:0111056, https://orcid.org/0000-0002-7437-8060, Orphanet:52530]
synonym: "platelet-type bleeding disorder 3" RELATED [DOID:0111056]
synonym: "platelet-type von Willebrand disease" EXACT [NCIT:C131681]
synonym: "pseudo-VON WILLEBRAND disease" RELATED [OMIM:177820]
synonym: "pseudo-von Willebrand disease" EXACT CLINGEN_LABEL [DOID:0111056, MONDO:Lexical, OMIM:177820]
synonym: "pseudo-von Willebrand disease type 2B" EXACT [Orphanet:52530]
synonym: "PT-VWD" EXACT [DOID:0111056, Orphanet:52530]
synonym: "von Willebrand disease platelet-type" EXACT [DOID:0111056]
synonym: "Von Willebrand disease, platelet type" RELATED [GARD:0008312]
synonym: "Von Willebrand disease, Platelet-type" RELATED [OMIM:177820]
synonym: "VWDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177820]
xref: DOID:0111056 {source="MONDO:equivalentTo"}
xref: GARD:8312 {source="MONDO:GARD"}
xref: ICD10CM:D69.8 {source="Orphanet:52530", source="Orphanet:52530/attributed", source="Orphanet:52530/ntbt", source="DOID:0111056"}
xref: MEDGEN:226914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536458 {source="MONDO:equivalentTo"}
xref: NANDO:2200668 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131681 {source="MONDO:equivalentTo"}
xref: OMIM:177820 {source="Orphanet:52530", source="MONDO:equivalentTo", source="Orphanet:52530/e", source="DOID:0111056"}
xref: Orphanet:52530 {source="MONDO:equivalentTo", source="DOID:0111056", source="OMIM:177820"}
xref: UMLS:C1280798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226914"}
is_a: MONDO:0000009 {source="DC-OMIM:177820", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:177820"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0019565 {source="MONDO:Redundant", source="NCIT:C131681"} ! hereditary von Willebrand disease
is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder
is_a: MONDO:0024574 {source="MESH:C536458", source="NCIT:C131681"} ! von Willebrand disease (hereditary or acquired)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4439 {source="MONDO:mim2gene_medgen"} ! GP1BA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5623" xsd:anyURI

[Term]
id: MONDO:0008333
name: pseudoxanthoma elasticum, forme fruste
def: "An autosomal dominant form of PXE." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
subset: gard_rare {source="GARD:10104", source="MONDO:GARD"}
subset: rare
synonym: "pseudoxanthoma elasticum, forme fruste" EXACT [OMIM:177850]
synonym: "pseudoxanthoma elasticum, heterozygous" RELATED [OMIM:177850]
xref: GARD:10104 {source="MONDO:GARD"}
xref: MEDGEN:357280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:177850 {source="MONDO:equivalentTo"}
xref: Orphanet:758 {source="OMIM:177850"}
xref: UMLS:C1867450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357280"}
is_a: MONDO:0100091 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! inherited pseudoxanthoma elasticum
relationship: excluded_subClassOf MONDO:0009925 {source="DC-OMIM:177850", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive inherited pseudoxanthoma elasticum
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 {source="MONDO:mim2gene_medgen"} ! ABCC6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste" xsd:anyURI {source="GARD:0010104"}

[Term]
id: MONDO:0008334
name: psoriasis 1, susceptibility to
def: "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "HLA-C psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "psoriasis 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:177900]
synonym: "psoriasis caused by mutation in HLA-C" EXACT [MONDO:design_pattern]
synonym: "psoriasis susceptibility 1" EXACT [OMIM:177900, OMIM:genemap2]
synonym: "PSORS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177900]
synonym: "susceptibility to psoriasis 1" RELATED [OMIM:177900]
xref: DOID:0111286 {source="MONDO:equivalentTo"}
xref: MEDGEN:357279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:177900 {source="MONDO:equivalentTo"}
xref: UMLS:C1867449 {source="MEDGEN:357279", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:177900"} ! psoriasis, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4933 ! HLA-C
intersection_of: predisposes_towards MONDO:0005083 ! psoriasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4933 {source="MONDO:mim2gene_medgen"} ! HLA-C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008335
name: short stature-craniofacial anomalies-genital hypoplasia syndrome
def: "Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p." [Orphanet:2994]
subset: gard_rare {source="GARD:2605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2994"}
subset: ordo_malformation_syndrome {source="Orphanet:2994"}
subset: orphanet_rare {source="Orphanet:2994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Haspeslagh syndrome" RELATED [OMIM:177980]
synonym: "Haspeslagh-Fryns-Muelenaere syndrome" EXACT [Orphanet:2994]
synonym: "pterygia intellectual disability facial dysmorphism" RELATED [GARD:0002605]
synonym: "pterygia mental retardation facial dysmorphism" RELATED DEPRECATED [GARD:0002605]
synonym: "pterygia, intellectual disability and distinctive craniofacial features" RELATED [GARD:0002605]
synonym: "pterygia, intellectual disability, and distinctive craniofacial features" RELATED [OMIM:177980]
synonym: "pterygia, mental retardation and distinctive craniofacial features" RELATED DEPRECATED [GARD:0002605]
synonym: "pterygia, mental retardation, and distinctive craniofacial features" RELATED DEPRECATED [OMIM:177980]
xref: GARD:2605 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2994/attributed", source="Orphanet:2994/ntbt", source="Orphanet:2994"}
xref: MEDGEN:357988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535844 {source="MONDO:equivalentTo"}
xref: OMIM:177980 {source="Orphanet:2994", source="MONDO:equivalentTo", source="Orphanet:2994/e"}
xref: Orphanet:2994 {source="MONDO:equivalentTo", source="OMIM:177980"}
xref: SCTID:716090004 {source="MONDO:equivalentTo"}
xref: UMLS:C1867443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357988"}
is_a: MONDO:0015161 {source="Orphanet:2994"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2994", source="Orphanet:2994/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008336
name: pterygium colli, isolated
synonym: "pterygium colli, isolated" EXACT [OMIM:177990]
xref: MEDGEN:356780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566741 {source="MONDO:equivalentTo"}
xref: OMIM:177990 {source="MONDO:equivalentTo"}
xref: UMLS:C1867442 {source="MEDGEN:356780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008337
name: familial pterygium of the conjunctiva
def: "Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision." [Orphanet:2989]
subset: gard_rare {source="GARD:4569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2989"}
subset: ordo_morphological_anomaly {source="Orphanet:2989"}
subset: orphanet_rare {source="Orphanet:2989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pterygium of conjunctiva and cornea" RELATED [OMIM:178000]
synonym: "pterygium of the conjunctiva and cornea" RELATED [GARD:0004569]
xref: GARD:4569 {source="MONDO:GARD"}
xref: ICD10CM:H11.0 {source="Orphanet:2989/attributed", source="Orphanet:2989/ntbt", source="Orphanet:2989", source="MONDO:directSiblingOf"}
xref: MEDGEN:356779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566740 {source="MONDO:equivalentTo"}
xref: OMIM:178000 {source="Orphanet:2989/e", source="MONDO:equivalentTo", source="Orphanet:2989"}
xref: Orphanet:2989 {source="OMIM:178000", source="MONDO:equivalentTo"}
xref: UMLS:C1867441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356779"}
is_a: MONDO:0020204 {source="Orphanet:2989"} ! conjunctival tumor
intersection_of: MONDO:0005085 ! pterygium
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0008338
name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
subset: gard_rare {source="GARD:13058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65743"}
subset: ordo_malformation_syndrome {source="Orphanet:65743"}
subset: orphanet_rare {source="Orphanet:65743"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis, distal, type 8" RELATED [MONDO:Lexical, OMIM:178110]
synonym: "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A" EXACT [OMIM:178110, OMIM:genemap2]
synonym: "DA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178110]
synonym: "distal arthrogryposis type 8" EXACT [Orphanet:65743]
synonym: "multiple pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:178110]
synonym: "pterygium syndrome, multiple, autosomal dominant" RELATED [OMIM:178110]
xref: DOID:0081321 {source="MONDO:equivalentTo"}
xref: GARD:13058 {source="MONDO:GARD"}
xref: ICD10CM:Q79.8 {source="Orphanet:65743", source="Orphanet:65743/attributed", source="Orphanet:65743/ntbt"}
xref: MEDGEN:401232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566739 {source="MONDO:equivalentTo"}
xref: OMIM:178110 {source="Orphanet:65743", source="MONDO:equivalentTo", source="Orphanet:65743/e"}
xref: Orphanet:65743 {source="OMIM:178110", source="MONDO:equivalentTo"}
xref: UMLS:C1867440 {source="MEDGEN:401232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017415 {source="MONDO:Redundant", source="Orphanet:65743"} ! multiple pterygium syndrome
is_a: MONDO:0019942 {source="DC-OMIM:178110", source="Orphanet:65743"} ! distal arthrogryposis
is_a: MONDO:0020937 {source="https://orcid.org/0000-0002-6601-2165"} ! contractures, pterygia, and variable skeletal fusions syndrome
intersection_of: MONDO:0017415 ! multiple pterygium syndrome
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 ! MYH3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 {source="MONDO:mim2gene_medgen"} ! MYH3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome" xsd:anyURI {source="GARD:0013058"}

[Term]
id: MONDO:0008339
name: antecubital pterygium syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2987"}
subset: ordo_malformation_syndrome {source="Orphanet:2987"}
subset: orphanet_rare {source="Orphanet:2987"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antecubital pterygium" RELATED [GARD:0004570]
synonym: "antecubital pterygium syndrome" EXACT CLINGEN_LABEL []
synonym: "pterygium antecubital" RELATED [GARD:0004570]
synonym: "pterygium, antecubital" RELATED [OMIM:178200]
xref: GARD:4570 {source="MONDO:GARD"}
xref: MEDGEN:401231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566738 {source="MONDO:equivalentTo"}
xref: OMIM:178200 {source="MONDO:equivalentTo", source="Orphanet:2987", source="Orphanet:2987/e"}
xref: Orphanet:2987 {source="MONDO:equivalentTo", source="OMIM:178200"}
xref: UMLS:C1867439 {source="MEDGEN:401231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0021154 {source="Orphanet:2987"} ! dermis disorder

[Term]
id: MONDO:0008340
name: ptosis, hereditary congenital, 1
def: "Congenital ptosis is characterized by superior eyelid drop present at birth." [Orphanet:91411]
subset: gard_rare {source="GARD:16798", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91411"}
subset: orphanet_rare {source="Orphanet:91411"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital eyelid ptosis" EXACT [NCIT:C27049]
synonym: "congenital ptosis" EXACT [MONDO:ambiguous, Orphanet:91411]
synonym: "congenital ptosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "PTOS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178300]
synonym: "ptosis, congenital" EXACT [OMIM:178300, OMIM:genemap2]
synonym: "ptosis, hereditary congenital 1" RELATED [MONDO:Lexical, OMIM:178300]
synonym: "ptosis, hereditary congenital, 1" EXACT [OMIM:178300, OMIM:genemap2]
xref: DOID:0060261 {source="MONDO:equivalentTo"}
xref: GARD:16798 {source="MONDO:GARD"}
xref: HP:0007970 {source="MONDO:otherHierarchy", source="DOID:0060261"}
xref: ICD10CM:Q10.0 {source="Orphanet:91411/specific", source="Orphanet:91411", source="DOID:0060261", source="Orphanet:91411/e"}
xref: ICD9:743.61 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060261"}
xref: MedDRA:10015996 {source="Orphanet:91411", source="Orphanet:91411/e"}
xref: MEDGEN:357987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566737 {source="MONDO:equivalentTo"}
xref: NCIT:C27049 {source="MONDO:equivalentTo", source="DOID:0060261"}
xref: OMIM:178300 {source="MONDO:equivalentTo", source="Orphanet:91411", source="DOID:0060261", source="Orphanet:91411/e"}
xref: Orphanet:91411 {source="MONDO:equivalentTo", source="OMIM:178300"}
xref: SCTID:156901004 {source="DOID:0060261"}
xref: SCTID:204197004 {source="DOID:0060261"}
xref: SCTID:268163008 {source="MONDO:equivalentTo", source="DOID:0060261"}
xref: SCTID:60938005 {source="DOID:0060261"}
xref: SCTID:61989004 {source="DOID:0060261"}
xref: UMLS:C1867438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357987"}
is_a: MONDO:0000728 {source="DOID:0060261", source="MESH:C566737", source="NCIT:C27049"} ! ptosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30939 {source="MONDO:mim2gene_medgen"} ! ZFHX4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4810" xsd:anyURI
property_value: IAO:0000589 "congenital ptosis (disease)" xsd:string

[Term]
id: MONDO:0008341
name: ptosis-strabismus-ectopic pupils syndrome
def: "Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant." [Orphanet:2999]
subset: gard_rare {source="GARD:4577", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2999"}
subset: ordo_malformation_syndrome {source="Orphanet:2999"}
subset: orphanet_rare {source="Orphanet:2999"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "McPherson-Hall syndrome" EXACT [Orphanet:2999]
synonym: "ptosis strabismus ectopic pupils" RELATED [GARD:0004577]
synonym: "ptosis, strabismus, and ectopic pupils" RELATED [OMIM:178330]
xref: GARD:4577 {source="MONDO:GARD"}
xref: MEDGEN:356778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566736 {source="MONDO:equivalentTo"}
xref: OMIM:178330 {source="MONDO:equivalentTo", source="Orphanet:2999", source="Orphanet:2999/e"}
xref: Orphanet:2999 {source="OMIM:178330", source="MONDO:equivalentTo"}
xref: UMLS:C1867437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356778"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0008342
name: pubic bone dysplasia
synonym: "pubic bone dysplasia" EXACT [OMIM:178350]
xref: MEDGEN:356777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566735 {source="MONDO:equivalentTo"}
xref: OMIM:178350 {source="MONDO:equivalentTo"}
xref: UMLS:C1867436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356777"}
is_a: MONDO:0003847 {source="MESH:C566735/inferred"} ! hereditary disease

[Term]
id: MONDO:0008343
name: pulmonary atresia with ventricular septal defect
def: "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot." [Orphanet:1207]
subset: gard_rare {source="GARD:4588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1207"}
subset: ordo_morphological_anomaly {source="Orphanet:1207"}
subset: orphanet_rare {source="Orphanet:1207"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pulmonary atresia with ventricular septal defect" EXACT [OMIM:178370]
synonym: "pulmonary valve atresia with ventricular septal defect" EXACT [NCIT:C99033]
xref: GARD:4588 {source="MONDO:GARD"}
xref: ICD10CM:Q25.5 {source="Orphanet:1207/ntbt", source="Orphanet:1207"}
xref: MEDGEN:87492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562833 {source="MONDO:equivalentTo"}
xref: NANDO:1200708 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200252 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99033 {source="MONDO:equivalentTo"}
xref: OMIM:178370 {source="Orphanet:1207/e", source="MONDO:equivalentTo", source="Orphanet:1207"}
xref: Orphanet:1207 {source="OMIM:178370", source="MONDO:equivalentTo"}
xref: SCTID:253591008 {source="MONDO:equivalentTo"}
xref: UMLS:C0344976 {source="MEDGEN:87492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016581 {source="Orphanet:1207"} ! conotruncal heart malformations
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect" xsd:anyURI {source="GARD:0004588"}

[Term]
id: MONDO:0008344
name: pulmonary edema of mountaineers, susceptibility to
subset: predisposition
synonym: "HAPH" RELATED ABBREVIATION [GARD:0008348]
synonym: "high altitude pulmonary hypertension" RELATED [OMIM:178400]
synonym: "pulmonary edema of mountaineers" RELATED [GARD:0008348]
synonym: "pulmonary edema of mountaineers, susceptibility to" EXACT [OMIM:178400]
synonym: "pulmonary oedema of mountaineers" RELATED OMO:0003005 []
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:993.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535833 {source="MONDO:equivalentTo"}
xref: OMIM:178400 {source="MONDO:equivalentTo"}
xref: SCTID:233954004 {source="MONDO:equivalentTo"}
xref: UMLS:C0340552 {source="MEDGEN:83314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:178400"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0031257 {source="OMIM:178400"} ! high altitude pulmonary edema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0008345
name: obsolete idiopathic pulmonary fibrosis
xref: NANDO:1200417 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4508" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800029

[Term]
id: MONDO:0008346
name: pulmonary hemosiderosis
def: "A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." [https://orcid.org/0000-0001-5208-3432, Orphanet:99931]
subset: gard_rare {source="GARD:6763", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:91174"}
subset: ordo_disorder {source="Orphanet:99931"}
subset: orphanet_rare {source="Orphanet:99931"}
subset: rare
synonym: "alveolar hypoventilation syndrome" RELATED [GARD:0006763]
synonym: "brown induration" EXACT [DOID:12118]
synonym: "brown lung" EXACT [DOID:12118]
synonym: "Idiopathic Pulmonary Hemosiderosis" EXACT [NORD:91174]
synonym: "idiopathic pulmonary hemosiderosis" EXACT [DOID:12118, ICD9CM:516.1]
synonym: "pulmonary hemosiderosis" EXACT [OMIM:178550]
synonym: "pulmonary siderosis" EXACT [DOID:10328, MONDO:0001002]
synonym: "siderosis" RELATED [DOID:10328]
xref: DOID:10328 {source="MONDO:equivalentTo"}
xref: DOID:12118 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:6763 {source="MONDO:GARD"}
xref: ICD10CM:J63.4 {source="DOID:10328"}
xref: ICD10CM:J84.03 {source="DOID:12118"}
xref: ICD10EXP:E83.1+ {source="Orphanet:99931", source="Orphanet:99931/ntbt"}
xref: ICD10EXP:J99.8* {source="Orphanet:99931", source="Orphanet:99931/ntbt"}
xref: icd11.foundation:1542272036 {source="Orphanet:99931", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:516.1 {source="DOID:12118", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536281 {source="Orphanet:99931", source="DOID:12118", source="Orphanet:99931/e"}
xref: MESH:D012806 {source="DOID:10328", source="MONDO:equivalentTo"}
xref: NANDO:1200751 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100037 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200207 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:91174 {source="MONDO:NORD"}
xref: OMIM:178550 {source="Orphanet:99931", source="DOID:12118", source="MONDO:equivalentTo", source="Orphanet:99931/e"}
xref: Orphanet:99931 {source="DOID:12118", source="OMIM:178550", source="MONDO:equivalentTo"}
xref: SCTID:155591007 {source="DOID:10328"}
xref: SCTID:190848001 {source="DOID:12118"}
xref: SCTID:266401007 {source="DOID:10328"}
xref: SCTID:40527005 {source="DOID:12118", source="MONDO:equivalentTo"}
xref: SCTID:62371005 {source="DOID:10328"}
xref: UMLS:C0020807 {source="MEDGEN:9403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001436 {source="DOID:12118"} ! hemosiderosis
is_a: MONDO:0015926 {source="DOID:10328", source="MESH:D012806"} ! pneumoconiosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7645/siderosis" xsd:anyURI {source="GARD:0007645"}

[Term]
id: MONDO:0008347
name: obsolete idiopathic and/or familial pulmonary arterial hypertension
def: "OBSOLETE. Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." [Orphanet:422]
subset: ordo_disorder {source="Orphanet:422"}
subset: otar {source="MONDO:OTAR"}
synonym: "idiopathic and/or familial pulmonary arterial hypertension" EXACT CLINGEN_LABEL []
synonym: "IFPAH" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "PPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178600]
synonym: "pulmonary hypertension, primary, 1" RELATED [MONDO:Lexical, OMIM:178600]
synonym: "pulmonary hypertension, primary, type 1" EXACT [MONDORULE:1, OMIM:178600]
xref: GARD:16531 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I27.0 {source="Orphanet:422", source="Orphanet:422/e", source="Orphanet:422/specific"}
xref: Orphanet:422 {source="MONDO:obsoleteEquivalent", source="OMIM:178600"}
relationship: excluded_subClassOf MONDO:0015510 {source="Orphanet:422", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic respiratory disease
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6691" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008348
name: pulmonary nodular lymphoid hyperplasia
def: "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." [Orphanet:60026]
subset: gard_rare {source="GARD:16663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:60026"}
subset: orphanet_rare {source="Orphanet:60026"}
subset: rare
synonym: "pulmonary nodular lymphoid hyperplasia, familial" RELATED [OMIM:178610]
synonym: "pulmonary pseudolymphoma" EXACT [Orphanet:60026]
xref: GARD:16663 {source="MONDO:GARD"}
xref: MEDGEN:401226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:178610 {source="MONDO:equivalentTo", source="Orphanet:60026", source="Orphanet:60026/e"}
xref: Orphanet:60026 {source="MONDO:equivalentTo", source="OMIM:178610"}
xref: SCTID:718097008 {source="MONDO:equivalentTo"}
xref: UMLS:C1867419 {source="MONDO:equivalentTo", source="MEDGEN:401226", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:60026"} ! respiratory system disorder

[Term]
id: MONDO:0008349
name: pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities
synonym: "Ciuffo syndrome" RELATED [OMIM:178650]
synonym: "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" EXACT [OMIM:178650]
xref: MEDGEN:357274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566733 {source="MONDO:equivalentTo"}
xref: OMIM:178650 {source="MONDO:equivalentTo"}
xref: UMLS:C1867407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357274"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008350
name: pulmonic stenosis and deafness
synonym: "pulmonic stenosis and deafness" EXACT [OMIM:178651]
xref: MEDGEN:357273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:178651 {source="MONDO:equivalentTo"}
xref: UMLS:C1867406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357273"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008351
name: obsolete pupil, egg-shaped
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "egg shaped pupils" RELATED [GARD:0008291]
synonym: "ovoid pupils" RELATED [GARD:0008291]
synonym: "pupil, egg-shaped" EXACT [OMIM:178800]
xref: MESH:C566731 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:178800 {source="GARD:0008291", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8291/egg-shaped-pupils" xsd:anyURI {source="GARD:0008291"}
is_obsolete: true

[Term]
id: MONDO:0008352
name: pupillary membrane, persistence of
synonym: "pupillary membrane, persistence of" EXACT [OMIM:178900]
xref: MEDGEN:124386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562700 {source="MONDO:equivalentTo"}
xref: OMIM:178900 {source="MONDO:equivalentTo"}
xref: UMLS:C0271130 {source="MEDGEN:124386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008353
name: pruritic urticarial papules and plaques of pregnancy
subset: gard_rare {source="GARD:9635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64745"}
subset: orphanet_rare {source="Orphanet:64745"}
subset: rare
synonym: "polymorphic eruption of pregnancy" EXACT [OMIM:178995, Orphanet:64745]
synonym: "pruritic urticarial papules and plaques of pregnancy" EXACT [MONDO:Lexical, OMIM:178995]
synonym: "pruritic urticarial papules and plaques of pregnancy, familial (subtype)" RELATED [GARD:0009635]
synonym: "pruritic urticarial papules plaques of pregnancy" RELATED [GARD:0009635]
synonym: "PUPPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178995]
xref: GARD:9635 {source="MONDO:GARD"}
xref: ICD10CM:O26.8 {source="Orphanet:64745", source="Orphanet:64745/ntbt"}
xref: icd11.foundation:968694549 {source="MONDO:equivalentTo", source="Orphanet:64745", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:646.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10066100 {source="Orphanet:64745", source="Orphanet:64745/e"}
xref: MEDGEN:78710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535817 {source="MONDO:equivalentTo", source="Orphanet:64745", source="Orphanet:64745/e"}
xref: OMIM:178995 {source="MONDO:equivalentTo", source="Orphanet:64745", source="Orphanet:64745/e"}
xref: Orphanet:64745 {source="MONDO:equivalentTo", source="OMIM:178995"}
xref: SCTID:88697005 {source="MONDO:equivalentTo"}
xref: UMLS:C0269680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78710"}
is_a: MONDO:0005492 {source="Orphanet:64745"} ! urticaria
is_a: MONDO:0024575 {source="MESH:C535817", source="MONDO:Redundant", source="Orphanet:64745"} ! pregnancy disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582", source="MONDO:0019298"} ! rare

[Term]
id: MONDO:0008354
name: purpura simplex
synonym: "purpura simplex" EXACT [OMIM:179000]
xref: ICD9:287.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:124424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536249 {source="MONDO:equivalentTo"}
xref: OMIM:179000 {source="MONDO:equivalentTo"}
xref: SCTID:277791008 {source="MONDO:equivalentTo"}
xref: UMLS:C0272309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124424"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008355
name: pyloric stenosis, infantile hypertrophic, 1
synonym: "IHPS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:179010]
synonym: "pyloric stenosis, infantile" RELATED [OMIM:179010]
synonym: "pyloric stenosis, infantile hypertrophic" RELATED [OMIM:179010]
synonym: "pyloric stenosis, infantile hypertrophic 1, multifactorial" EXACT [OMIM:179010, OMIM:genemap2]
synonym: "pyloric stenosis, infantile hypertrophic, 1" EXACT [MONDO:Lexical, OMIM:179010]
xref: MEDGEN:357978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:179010 {source="MONDO:equivalentTo"}
xref: UMLS:C1867403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357978"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100239 {source="DC-OMIM:179010", source="OMIM:179010"} ! inherited hypertrophic pyloric stenosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008356
name: radial heads, posterior dislocation of
synonym: "radial heads, posterior dislocation of" EXACT [OMIM:179200]
xref: MEDGEN:357272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566728 {source="MONDO:equivalentTo"}
xref: OMIM:179200 {source="MONDO:equivalentTo"}
xref: UMLS:C1867398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357272"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008357
name: radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
def: "A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." [https://orcid.org/0000-0001-5208-3432, Orphanet:2252]
subset: gard_rare {source="GARD:258", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2252"}
subset: ordo_malformation_syndrome {source="Orphanet:2252"}
subset: orphanet_rare {source="Orphanet:2252"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema" EXACT [GARD:0000258]
synonym: "radial hypoplasia, triphalangeal thumbs and hypospadias" RELATED [GARD:0004626]
synonym: "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" EXACT [GARD:0004626, OMIM:179250]
synonym: "Schmitt Gillenwater Kelly syndrome" EXACT [GARD:0000258]
synonym: "Schmitt-Gillenwater-Kelly syndrome" EXACT [Orphanet:2252]
xref: GARD:258 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2252/attributed", source="Orphanet:2252/ntbt", source="Orphanet:2252"}
xref: MEDGEN:357271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536262 {source="MONDO:equivalentTo"}
xref: OMIM:179250 {source="Orphanet:2252/e", source="GARD:0004626", source="MONDO:equivalentTo", source="GARD:0000258", source="Orphanet:2252"}
xref: Orphanet:2252 {source="OMIM:179250", source="MONDO:equivalentTo"}
xref: SCTID:716092007 {source="MONDO:equivalentTo"}
xref: UMLS:C1867397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357271"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2252"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2252", source="Orphanet:2252/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015620 {source="Orphanet:2252", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic urogenital tract malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5204" xsd:anyURI

[Term]
id: MONDO:0008358
name: radial ray hypoplasia-choanal atresia syndrome
def: "Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus." [Orphanet:3026]
subset: gard_rare {source="GARD:4627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3026"}
subset: ordo_malformation_syndrome {source="Orphanet:3026"}
subset: orphanet_rare {source="Orphanet:3026"}
subset: rare
synonym: "Goldblatt-Viljoen syndrome" EXACT [Orphanet:3026]
synonym: "radial ray hypoplasia and choanal atresia" RELATED [GARD:0004627]
synonym: "radial ray hypoplasia choanal atresia" RELATED [GARD:0004627]
synonym: "radial RAY hypoplasia with choanal atresia" RELATED [OMIM:179270]
xref: GARD:4627 {source="MONDO:GARD"}
xref: MEDGEN:419083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536263 {source="Orphanet:3026", source="Orphanet:3026/e"}
xref: MESH:C537280 {source="Orphanet:3026", source="Orphanet:3026/e"}
xref: OMIM:179270 {source="Orphanet:3026", source="MONDO:equivalentTo", source="Orphanet:3026/e"}
xref: Orphanet:3026 {source="MONDO:equivalentTo", source="OMIM:179270"}
xref: SCTID:232373003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931464 {source="MEDGEN:419083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0008359
name: radio-renal syndrome
def: "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983." [Orphanet:3015]
subset: gard_rare {source="GARD:224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3015"}
subset: ordo_malformation_syndrome {source="Orphanet:3015"}
subset: orphanet_rare {source="Orphanet:3015"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "radial-renal syndrome" RELATED [OMIM:179280]
synonym: "radio renal syndrome" RELATED [GARD:0000224]
xref: GARD:224 {source="MONDO:GARD"}
xref: MEDGEN:419723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536267 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"}
xref: OMIM:179280 {source="Orphanet:3015", source="MONDO:equivalentTo", source="Orphanet:3015/e"}
xref: Orphanet:3015 {source="MONDO:equivalentTo", source="OMIM:179280"}
xref: SCTID:766765009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931146 {source="MEDGEN:419723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome" xsd:anyURI {source="GARD:0000224"}

[Term]
id: MONDO:0008360
name: obsolete radioulnar synostosis
synonym: "obsolete radioulnar synostosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete radioulnar synostosis (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0017985

[Term]
id: MONDO:0008361
name: radius, aplasia of, with cleft lip/palate
synonym: "radius, aplasia of, with cleft lip/palate" EXACT [OMIM:179400]
xref: MEDGEN:357270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:179400 {source="MONDO:equivalentTo"}
xref: UMLS:C1867395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357270"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008362
name: ragweed sensitivity
synonym: "ragweed sensitivity" EXACT [OMIM:179450]
xref: MEDGEN:356768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566725 {source="MONDO:equivalentTo"}
xref: OMIM:179450 {source="MONDO:equivalentTo"}
xref: UMLS:C1867394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356768"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008363
name: raindrop hypopigmentation
synonym: "raindrop hypopigmentation" EXACT [OMIM:179500]
xref: MEDGEN:356767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566724 {source="MONDO:equivalentTo"}
xref: OMIM:179500 {source="MONDO:equivalentTo"}
xref: UMLS:C1867393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356767"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008364
name: Raynaud disease
def: "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cold fingers, hereditary" RELATED [OMIM:179600]
synonym: "Raynaud disease" EXACT [OMIM:179600]
synonym: "Raynaud syndrome" EXACT [NCIT:C116359]
synonym: "Raynaud's disease" EXACT [DOID:10300, MTH:639, NCIT:C34972]
synonym: "Raynaud's syndrome" EXACT [DOID:10300, ICD9CM:443.0]
synonym: "Raynaud's syndrome (disorder) [ambiguous]" EXACT [DOID:10300]
synonym: "secondary Raynaud disease" EXACT [NCIT:C116359]
synonym: "secondary Raynaud phenomenon" EXACT [NCIT:C116359]
synonym: "secondary Raynaud's disease" EXACT [NCIT:C116359]
synonym: "secondary Raynaud's phenomenon" EXACT [NCIT:C116359]
xref: DOID:10300 {source="EFO:1001145", source="MONDO:equivalentTo"}
xref: EFO:1001145 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I73.0 {source="MONDO:equivalentTo", source="DOID:10300"}
xref: ICD9:443.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:20473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011928 {source="EFO:1001145", source="MONDO:equivalentTo", source="DOID:10300"}
xref: NCIT:C116359 {source="MONDO:equivalentTo"}
xref: NCIT:C50724 {source="EFO:1001145"}
xref: OMIM:179600 {source="MONDO:equivalentTo", source="DOID:10300"}
xref: SCTID:123266007 {source="DOID:10300"}
xref: SCTID:195295006 {source="EFO:1001145", source="MONDO:equivalentTo", source="DOID:10300"}
xref: SCTID:22954002 {source="DOID:10300"}
xref: UMLS:C0034734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20473"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005294 {source="DOID:10300", source="EFO:1001145", source="MESH:D011928", source="NCIT:C116359/inferred"} ! peripheral vascular disease

[Term]
id: MONDO:0008365
name: recombinant 8 syndrome
def: "Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." [Orphanet:96167]
subset: gard_rare {source="GARD:9698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96167"}
subset: ordo_malformation_syndrome {source="Orphanet:96167"}
subset: orphanet_rare {source="Orphanet:96167"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion" RELATED [OMIM:179613]
synonym: "Duplication 8q/deletion 8p" EXACT [Orphanet:96167]
synonym: "Rec(8) syndrome" EXACT [Orphanet:96167]
synonym: "Rec8 syndrome" EXACT [OMIM:179613, Orphanet:96167]
synonym: "RECOMBINANT chromosome 8 syndrome" RELATED [OMIM:179613]
synonym: "Recombinant chromosome 8 syndrome" EXACT [Orphanet:96167]
synonym: "San Luis Valley recombinant chromosome 8 syndrome" RELATED [GARD:0009698]
synonym: "San Luis Valley syndrome" EXACT [OMIM:179613, Orphanet:96167]
xref: GARD:9698 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96167", source="Orphanet:96167/attributed", source="Orphanet:96167/ntbt"}
xref: MEDGEN:167070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535296 {source="MONDO:equivalentTo"}
xref: OMIM:179613 {source="Orphanet:96167", source="MONDO:equivalentTo", source="Orphanet:96167/e"}
xref: Orphanet:96167 {source="MONDO:equivalentTo", source="OMIM:179613"}
xref: SCTID:718189004 {source="MONDO:equivalentTo"}
xref: UMLS:C0795822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167070"}
is_a: MONDO:0003847 {source="MESH:C535296/inferred", source="Orphanet:96167/inferred"} ! hereditary disease

[Term]
id: MONDO:0008366
name: red cell permeability defect
synonym: "elliptocytosis with transverse slitlike changes" RELATED [OMIM:179650]
synonym: "red cell permeability defect" EXACT [OMIM:179650]
xref: MEDGEN:357961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:179650 {source="MONDO:equivalentTo"}
xref: UMLS:C1867340 {source="MEDGEN:357961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008367
name: red cell phospholipid defect with hemolysis
synonym: "high Red cell phosphatidylcholine hemolytic Anaemia" RELATED OMO:0003005 []
synonym: "high Red cell phosphatidylcholine hemolytic Anemia" RELATED [OMIM:179700]
synonym: "HPCHA" RELATED ABBREVIATION [GARD:0010013]
synonym: "leaky Red cell syndrome" RELATED [OMIM:179700]
synonym: "phosphatidylcholine Red cell Membrane disorder" RELATED [OMIM:179700]
synonym: "red cell phospholipid defect with hemolysis" EXACT [OMIM:179700]
xref: MEDGEN:357960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535298 {source="MONDO:equivalentTo"}
xref: NANDO:2200634 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:179700 {source="MONDO:equivalentTo"}
xref: UMLS:C1867339 {source="MEDGEN:357960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C535298/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10013/red-cell-phospholipid-defect-with-hemolysis" xsd:anyURI {source="GARD:0010013"}

[Term]
id: MONDO:0008368
name: autosomal dominant distal renal tubular acidosis
def: "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." [Orphanet:93608]
subset: gard_rare {source="GARD:4668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93608"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AD dRTA" EXACT [Orphanet:93608]
synonym: "autosomal dominant distal renal tubular acidosis (disease)" EXACT []
synonym: "autosomal dominant SLC4A1-associated distal renal tubular acidosis" RELATED [GARD:0004668]
synonym: "distal renal tubular acidosis (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "distal renal tubular acidosis 1" EXACT [OMIM:179800, OMIM:genemap2]
synonym: "renal tubular acidosis 1" RELATED [OMIM:179800]
synonym: "renal tubular acidosis, distal, autosomal dominant" RELATED [OMIM:179800]
synonym: "RTA, classic type" RELATED [OMIM:179800]
synonym: "RTA, distal type, autosomal dominant" RELATED [OMIM:179800]
synonym: "RTA, gradient type" RELATED [OMIM:179800]
xref: GARD:4668 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:93608", source="Orphanet:93608/attributed", source="Orphanet:93608/ntbt"}
xref: MESH:C538565 {source="Orphanet:93608", source="Orphanet:93608/e"}
xref: OMIM:179800 {source="Orphanet:93608", source="MONDO:equivalentTo", source="Orphanet:93608/e"}
xref: Orphanet:18 {source="OMIM:179800"}
xref: Orphanet:93608 {source="MONDO:equivalentTo", source="OMIM:179800"}
is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:93608"} ! distal renal tubular acidosis
intersection_of: MONDO:0015827 ! distal renal tubular acidosis
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008369
name: proximal renal tubular acidosis
def: "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." [Orphanet:47159]
subset: gard_rare {source="GARD:16644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:47159"}
subset: orphanet_rare {source="Orphanet:47159"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pRTA" EXACT [Orphanet:47159]
synonym: "renal tubular acidosis 2" RELATED [OMIM:179830]
synonym: "renal tubular acidosis type 2" EXACT [Orphanet:47159]
synonym: "renal tubular acidosis, proximal" RELATED [OMIM:179830]
synonym: "RTA, proximal type" RELATED [OMIM:179830]
synonym: "RTA, rate type" RELATED [OMIM:179830]
synonym: "Type 2 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "Type 2 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
xref: GARD:16644 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:47159/attributed", source="Orphanet:47159/ntbt", source="Orphanet:47159"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10037080 {source="Orphanet:47159/e", source="Orphanet:47159"}
xref: MEDGEN:82804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:179830 {source="Orphanet:47159/e", source="MONDO:equivalentTo", source="Orphanet:47159"}
xref: Orphanet:47159 {source="MONDO:equivalentTo", source="OMIM:179830"}
xref: SCTID:24790002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82804"}
is_a: MONDO:0001909 {source="DC-OMIM:179830"} ! renal tubular acidosis

[Term]
id: MONDO:0008370
name: obsolete reticular dystrophy of retinal pigment epithelium
property_value: IAO:0000231 MONDO:TermsMerged
is_obsolete: true
replaced_by: MONDO:0009979

[Term]
id: MONDO:0008371
name: Dowling-Degos disease
def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." [DOID:0060256, http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, http://ghr.nlm.nih.gov/condition/dowling-degos-disease]
subset: gard_rare {source="GARD:9775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79145"}
subset: orphanet_rare {source="Orphanet:79145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dark dot disease" EXACT [DOID:0060256]
synonym: "DDD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:179850]
synonym: "Dowling-Degos disease 1" RELATED [MONDO:Lexical, OMIM:179850]
synonym: "Dowling-Degos disease type 1" EXACT [MONDORULE:1, OMIM:179850]
synonym: "Dowling-Degos Kitamura disease" RELATED [GARD:0009775]
synonym: "reticular pigment anomaly of flexures" EXACT [DOID:0060256, Orphanet:79145]
xref: DOID:0060256 {source="MONDO:equivalentTo"}
xref: GARD:9775 {source="MONDO:GARD"}
xref: ICD10CM:L81.8 {source="Orphanet:79145/attributed", source="Orphanet:79145/ntbt", source="Orphanet:79145"}
xref: MedDRA:10068651 {source="Orphanet:79145/e", source="Orphanet:79145"}
xref: MEDGEN:811363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562924 {source="DOID:0060256", source="MONDO:equivalentTo"}
xref: Orphanet:79145 {source="DOID:0060256", source="MONDO:equivalentTo", source="OMIM:179850"}
xref: SCTID:239133004 {source="DOID:0060256", source="MONDO:directSiblingOf"}
xref: UMLS:C3714534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811363"}
is_a: MONDO:0000118 {source="DC-OMIM:179850", source="OMIM:179850"} ! reticulate pigment disorder
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005093 ! skin disorder
is_a: MONDO:0017747 {source="Orphanet:79145"} ! disorder of fucoglycosan synthesis
is_a: MONDO:0019289 {source="Orphanet:79145"} ! hyperpigmentation of the skin
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0008372
name: retinal aplasia
subset: gard_rare {source="GARD:15109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita" RELATED [OMIM:179900]
synonym: "retinal aplasia" EXACT [OMIM:179900]
xref: GARD:15109 {source="MONDO:GARD"}
xref: MEDGEN:356752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566720 {source="MONDO:equivalentTo"}
xref: OMIM:179900 {source="MONDO:equivalentTo"}
xref: Orphanet:65 {source="OMIM:179900"}
xref: UMLS:C1867331 {source="MEDGEN:356752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 ! Leber congenital amaurosis

[Term]
id: MONDO:0008373
name: retinal arterial tortuosity
subset: gard_rare {source="GARD:16693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75326"}
subset: orphanet_rare {source="Orphanet:75326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RATOR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180000]
synonym: "retinal arterial tortuosity" EXACT [MONDO:ambiguous]
synonym: "retinal arterial tortuosity (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "retinal arteries, tortuosity OF" RELATED [MONDO:Lexical, OMIM:180000]
synonym: "retinal arteriolar tortuosity" EXACT [Orphanet:75326]
synonym: "retinal haemorrhage with vascular tortuosity" EXACT OMO:0003005 []
synonym: "retinal hemorrhage with vascular tortuosity" EXACT [OMIM:180000, Orphanet:75326]
synonym: "tortuosity of retinal arteries" EXACT [Orphanet:75326]
xref: DOID:0111547 {source="MONDO:equivalentTo"}
xref: GARD:16693 {source="MONDO:GARD"}
xref: HP:0001136 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q14.1 {source="Orphanet:75326/ntbt", source="Orphanet:75326/inclusion", source="Orphanet:75326"}
xref: MEDGEN:140840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:180000 {source="Orphanet:75326", source="MONDO:equivalentTo", source="Orphanet:75326/e"}
xref: Orphanet:75326 {source="MONDO:equivalentTo", source="OMIM:180000"}
xref: UMLS:C0423401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140840"}
is_a: MONDO:0000473 {source="DOID:0111547"} ! arterial disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="MONDO:mim2gene_medgen"} ! COL4A1
property_value: IAO:0000589 "retinal arterial tortuosity (disease)" xsd:string

[Term]
id: MONDO:0008374
name: retinal cone dystrophy type 1
subset: gard_rare {source="GARD:3196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone dystrophy autosomal dominant" RELATED [GARD:0003196]
synonym: "cone dystrophy, autosomal dominant" RELATED [OMIM:180020]
synonym: "RCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180020]
synonym: "retinal cone Degeneration" RELATED [OMIM:180020]
synonym: "retinal cone dystrophy 1" RELATED [MONDO:Lexical, OMIM:180020]
synonym: "retinal cone dystrophy-1" EXACT [OMIM:180020, OMIM:genemap2]
xref: DOID:0081024 {source="MONDO:equivalentTo"}
xref: GARD:3196 {source="MONDO:GARD"}
xref: MEDGEN:356747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566719 {source="MONDO:equivalentTo"}
xref: OMIM:180020 {source="MONDO:equivalentTo"}
xref: Orphanet:1871 {source="OMIM:180020"}
xref: UMLS:C1867326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356747"}
is_a: MONDO:0000455 {source="DC-OMIM:180020"} ! cone dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008375
name: retinal detachment
def: "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "detached retina" EXACT [NCIT:C26874]
synonym: "retina, detached" EXACT [NCIT:C26874]
synonym: "retinal detachment" EXACT [OMIM:180050]
xref: DOID:5327 {source="EFO:0005773", source="MONDO:equivalentTo"}
xref: EFO:0005773 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H33.2 {source="DOID:5327"}
xref: ICD9:361.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:361.9 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327", source="MONDO:i2s"}
xref: ICD9:362.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:19759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012163 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327"}
xref: NCIT:C26874 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327"}
xref: OMIM:180050 {source="MONDO:equivalentTo"}
xref: OMIM:312530 {source="EFO:0005773", source="MONDO:equivalentObsolete"}
xref: SCTID:155103005 {source="DOID:5327"}
xref: SCTID:193347002 {source="DOID:5327"}
xref: SCTID:42059000 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327"}
xref: UMLS:C0035305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19759"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005283 {source="DOID:5327", source="MESH:D012163", source="MONDO:Redundant"} ! retinal disorder
relationship: disease_has_location UBERON:0000966 {source="EFO:0000784"} ! retina

[Term]
id: MONDO:0008376
name: retinal venous beading
synonym: "retinal venous beading" EXACT [OMIM:180080]
xref: MEDGEN:422473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:180080 {source="MONDO:equivalentTo"}
xref: UMLS:C2939143 {source="MEDGEN:422473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008377
name: retinitis pigmentosa 1
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9149", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:268000]
synonym: "retinitis pigmentosa 1" EXACT [MONDO:Lexical, OMIM:180100]
synonym: "retinitis pigmentosa caused by mutation in RP1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 1" EXACT [DOID:0110390, MONDO:0009981, MONDORULE:1, OMIM:180100]
synonym: "RP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268000]
synonym: "RP1" EXACT ABBREVIATION [DOID:0110390, MONDO:Lexical, OMIM:180100]
synonym: "RP1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110390 {source="MONDO:equivalentTo"}
xref: GARD:9149 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110390"}
xref: MEDGEN:67395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538365 {source="MONDO:equivalentTo"}
xref: OMIM:180100 {source="DOID:0110390", source="MONDO:equivalentTo"}
xref: UMLS:C0220701 {source="MEDGEN:67395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:180100", source="DOID:0110390", source="MESH:C538365", source="MONDO:Redundant", source="OMIM:180100", source="OMIM:268000"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10263 ! RP1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10263 {source="MONDO:mim2gene_medgen"} ! RP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0008378
name: retinitis pigmentosa 9
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 9" EXACT [MONDO:Lexical, OMIM:180104]
synonym: "retinitis pigmentosa caused by mutation in RP9" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 9" EXACT [DOID:0110387, MONDORULE:1, OMIM:180104]
synonym: "RP 9" RELATED [GARD:0010382]
synonym: "RP9" EXACT ABBREVIATION [DOID:0110387, MONDO:Lexical, OMIM:180104]
synonym: "RP9 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110387 {source="MONDO:equivalentTo"}
xref: GARD:10382 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110387"}
xref: MEDGEN:356743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566716 {source="MONDO:equivalentTo"}
xref: OMIM:180104 {source="MONDO:equivalentTo", source="DOID:0110387"}
xref: UMLS:C1867300 {source="MEDGEN:356743", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:180104", source="DOID:0110387", source="MESH:C566716", source="MONDO:Redundant", source="OMIM:180104"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10288 ! RP9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10288 {source="MONDO:mim2gene_medgen"} ! RP9
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10382/retinitis-pigmentosa-9" xsd:anyURI {source="GARD:0010382"}

[Term]
id: MONDO:0008379
name: retinitis pigmentosa 10
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15110", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IMPDH1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 10" EXACT [MONDO:Lexical, OMIM:180105]
synonym: "retinitis pigmentosa caused by mutation in IMPDH1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 10" EXACT [DOID:0110388, MONDORULE:2, OMIM:180105]
synonym: "RP10" EXACT ABBREVIATION [DOID:0110388, MONDO:Lexical, OMIM:180105]
xref: DOID:0110388 {source="MONDO:equivalentTo"}
xref: GARD:15110 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110388"}
xref: MEDGEN:357247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566715 {source="MONDO:equivalentTo"}
xref: OMIM:180105 {source="MONDO:equivalentTo", source="DOID:0110388"}
xref: UMLS:C1867299 {source="MEDGEN:357247", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:180105", source="DOID:0110388", source="MESH:C566715", source="MONDO:Redundant", source="OMIM:180105"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6052 ! IMPDH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6052 {source="MONDO:mim2gene_medgen"} ! IMPDH1

[Term]
id: MONDO:0008380
name: retinoblastoma
def: "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C7541]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7563", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:790"}
subset: orphanet_rare {source="Orphanet:790"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eye cancer, retinoblastoma" RELATED [GARD:0007563]
synonym: "neuroblastoma of retina" RELATED EXCLUDE [DOID:768]
synonym: "RB" EXACT ABBREVIATION [DOID:768, NCIT:C7541]
synonym: "Rb" RELATED [OMIM:180200]
synonym: "RB - retinoblastoma" EXACT [DOID:768]
synonym: "RB1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:180200]
synonym: "retinoblastoma" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:180200]
synonym: "retinoblastoma, malignant" EXACT [NCIT:C7541]
xref: DOID:768 {source="MONDO:equivalentTo"}
xref: GARD:7563 {source="MONDO:GARD"}
xref: ICD10CM:C69.2 {source="Orphanet:790/e", source="Orphanet:790/specific", source="Orphanet:790"}
xref: icd11.foundation:1855353671 {source="MONDO:equivalentTo", source="Orphanet:790"}
xref: ICDO:9510/3 {source="NCIT:C7541"}
xref: MedDRA:10038916 {source="Orphanet:790/e", source="Orphanet:790"}
xref: MEDGEN:20552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012175 {source="Orphanet:790/e", source="DOID:768", source="MONDO:equivalentTo", source="Orphanet:790"}
xref: NANDO:2200042 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6956 {source="MONDO:relatedTo", source="DOID:768"}
xref: NCIT:C7541 {source="DOID:768", source="MONDO:equivalentTo"}
xref: ONCOTREE:RBL {source="MONDO:equivalentTo"}
xref: Orphanet:790 {source="OMIM:180200", source="MONDO:equivalentTo"}
xref: SCTID:134191003 {source="DOID:768"}
xref: SCTID:154553002 {source="DOID:768"}
xref: SCTID:189934006 {source="DOID:768"}
xref: SCTID:189935007 {source="DOID:768"}
xref: SCTID:19906005 {source="DOID:768"}
xref: SCTID:269614001 {source="DOID:768"}
xref: SCTID:370967009 {source="DOID:768", source="MONDO:equivalentTo"}
xref: UMLS:C0035335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20552"}
is_a: MONDO:0003072 {source="DOID:768/inferred", source="MESH:D012175", source="MONDO:Redundant", source="NCIT:C7541"} ! retinal cancer
is_a: MONDO:0004338 {source="DOID:768", source="MONDO:Entailed", source="MONDO:Redundant"} ! retinal cell cancer
is_a: MONDO:0021220 {source="MONDO:Entailed", source="Orphanet:790"} ! eye neoplasm
is_a: MONDO:0024341 {source="MONDO:Redundant", source="NCIT:C7541"} ! retinal cell neoplasm
relationship: disease_arises_from_structure UBERON:0005425 ! presumptive neural retina
relationship: disease_has_location UBERON:0003902 ! retinal neural layer
relationship: excluded_subClassOf MONDO:0015966 {source="Orphanet:790", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary eye tumor
relationship: excluded_subClassOf MONDO:0020238 {source="Orphanet:790", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited vitreous-retinal disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526" xsd:anyURI

[Term]
id: MONDO:0008381
name: dominant pericentral pigmentary retinopathy
def: "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." [DOID:0110420, PMID:3618160]
subset: gard_rare {source="GARD:15111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinopathy, pericentral pigmentary, dominant" RELATED [OMIM:180210]
xref: DOID:0110420 {source="MONDO:equivalentTo"}
xref: GARD:15111 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110420"}
xref: MEDGEN:357237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566713 {source="MONDO:equivalentTo"}
xref: OMIM:180210 {source="MONDO:equivalentTo", source="DOID:0110420"}
xref: Orphanet:791 {source="OMIM:180210"}
xref: UMLS:C1867261 {source="MONDO:equivalentTo", source="MEDGEN:357237", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DOID:0110420", source="OMIM:180210"} ! retinitis pigmentosa

[Term]
id: MONDO:0008382
name: retinoschisis, autosomal dominant
def: "Autosomal dominant form of retinoschisis." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:9144", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant retinoschisis" EXACT []
synonym: "retinoschisis autosomal dominant" RELATED [GARD:0009144]
synonym: "retinoschisis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:180270]
xref: GARD:9144 {source="MONDO:GARD"}
xref: MEDGEN:357940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000598640 {source="MONDO:equivalentTo"}
xref: OMIM:180270 {source="MONDO:equivalentTo"}
xref: UMLS:C1867235 {source="MEDGEN:357940", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0004579 {source="DC-OMIM:180270", source="MESH:C000598640", source="MONDO:Redundant"} ! retinoschisis
intersection_of: MONDO:0004579 ! retinoschisis
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant" xsd:anyURI {source="GARD:0009144"}

[Term]
id: MONDO:0008383
name: rheumatoid arthritis
def: "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." [NCIT:C2884]
subset: otar {source="MONDO:OTAR"}
synonym: "arthritis or polyarthritis, rheumatic" EXACT [DOID:7148]
synonym: "arthritis, rheumatoid" EXACT [NCIT:C2884]
synonym: "atrophic arthritis" BROAD [DOID:7148, NCIT:C27206]
synonym: "autoimmune arthritis" EXACT []
synonym: "RA" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C2884, OMIM:180300]
synonym: "rheumatoid arthritis" EXACT [MONDO:Lexical, NCIT:C2884, OMIM:180300]
synonym: "rheumatoid arthritis, progression of" EXACT [OMIM:180300, OMIM:genemap2]
synonym: "rheumatoid arthritis, susceptibility to" RELATED [OMIM:180300]
xref: DOID:7148 {source="MONDO:equivalentTo", source="EFO:0000685"}
xref: EFO:0000685 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001370 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0001-9859-8589"}
xref: ICD10CM:M06.9 {source="DOID:7148"}
xref: ICD9:714.0 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685", source="MONDO:i2s"}
xref: MEDGEN:2078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001172 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"}
xref: NCIT:C27206 {source="DOID:7148"}
xref: NCIT:C2884 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"}
xref: OMIM:180300 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"}
xref: Orphanet:284130 {source="OMIM:180300", source="MONDO:equivalentObsolete"}
xref: SCTID:156471009 {source="DOID:7148"}
xref: SCTID:156481008 {source="DOID:7148"}
xref: SCTID:287010008 {source="DOID:7148"}
xref: SCTID:69896004 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"}
xref: UMLS:C0003873 {source="MEDGEN:2078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005554 {source="EFO:0000685/inferred", source="MESH:D001172", source="MONDO:Redundant", source="NCIT:C2884"} ! rheumatic disorder
is_a: MONDO:0005578 {source="DOID:7148", source="EFO:0000685", source="MESH:D001172", source="MONDO:Redundant", source="NCIT:C2884"} ! arthritic joint disease
is_a: MONDO:0007179 {source="EFO:0000685", source="MESH:D001172", source="MONDO:Redundant", source="NCIT:C2884"} ! autoimmune disease
intersection_of: MONDO:0005578 ! arthritic joint disease
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: disease_has_feature HP:0001369 ! Arthritis
relationship: disease_has_feature HP:0002960 ! Autoimmunity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6094" xsd:anyURI

[Term]
id: MONDO:0008384
name: rheumatoid nodulosis
def: "A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules." [PMID:17041479]
synonym: "accelerated rheumatoid nodulosis" EXACT [ISBN-13:978-1-4160-2999-1, Wikipedia:Rheumatoid_nodulosis]
synonym: "rheumatoid nodulosis" EXACT [OMIM:180350]
xref: MEDGEN:19781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012218 {source="MONDO:equivalentTo"}
xref: OMIM:180350 {source="MONDO:equivalentTo"}
xref: SCTID:402426007 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:402427003 {source="MONDO:equivalentTo"}
xref: UMLS:C0035450 {source="MEDGEN:19781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024280 {source="PMID:17041479"} ! polyarticular arthritis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9625/rheumatoid-nodulosis" xsd:anyURI {source="GARD:0009625"}

[Term]
id: MONDO:0008385
name: rhiny
subset: n_of_one
synonym: "craniorhiny" RELATED [OMIM:180360]
synonym: "rhiny" EXACT [OMIM:180360]
xref: MEDGEN:401188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566708 {source="MONDO:equivalentTo"}
xref: OMIM:180360 {source="MONDO:equivalentTo"}
xref: UMLS:C1867222 {source="MEDGEN:401188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008386
name: Axenfeld-Rieger syndrome type 1
def: "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth." [NCIT:C75015]
subset: gard_rare {source="GARD:10281", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Axenfeld-Rieger syndrome caused by mutation in PITX2" EXACT [MONDO:design_pattern]
synonym: "Axenfeld-Rieger syndrome type 1" EXACT CLINGEN_LABEL []
synonym: "Axenfeld-Rieger syndrome, type 1" RELATED [MONDO:Lexical, OMIM:180500]
synonym: "PITX2 Axenfeld-Rieger syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Rgs" RELATED [OMIM:180500]
synonym: "Rieg" RELATED [OMIM:180500]
synonym: "RIEG1" EXACT ABBREVIATION [DOID:0110120, MONDO:Lexical, OMIM:180500]
synonym: "Rieger syndrome type 1" EXACT [DOID:0110120]
synonym: "Rieger syndrome, type 1" RELATED [OMIM:180500]
xref: DOID:0110120 {source="MONDO:equivalentTo"}
xref: GARD:10281 {source="MONDO:GARD"}
xref: ICD10CM:Q13.8 {source="DOID:0110120"}
xref: MEDGEN:811487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75015 {source="MONDO:equivalentTo"}
xref: OMIM:180500 {source="MONDO:equivalentTo", source="DOID:0110120"}
xref: Orphanet:782 {source="OMIM:180500"}
xref: UMLS:C3714873 {source="MEDGEN:811487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75015"} ! syndromic disease
is_a: MONDO:0019187 {source="DC-OMIM:180500", source="DOID:0110120", source="MONDO:Redundant", source="OMIM:180500"} ! Axenfeld-Rieger syndrome
intersection_of: MONDO:0019187 ! Axenfeld-Rieger syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 ! PITX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 {source="MONDO:mim2gene_medgen"} ! PITX2

[Term]
id: MONDO:0008387
name: ring dermoid of cornea
def: "Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition." [Orphanet:91481]
subset: gard_rare {source="GARD:9696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91481"}
subset: orphanet_rare {source="Orphanet:91481"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral, annular limbal dermoids with corneal and conjunctival extension" RELATED [GARD:0009696]
synonym: "RDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180550]
synonym: "RING dermoid of cornea" RELATED [OMIM:180550]
synonym: "ring dermoid of cornea" EXACT [MONDO:Lexical, OMIM:180550]
synonym: "Ring dermoid syndrome" EXACT [Orphanet:91481]
xref: DOID:0111548 {source="MONDO:equivalentTo"}
xref: GARD:9696 {source="MONDO:GARD"}
xref: ICD10CM:D31.1 {source="Orphanet:91481", source="Orphanet:91481/ntbt"}
xref: MEDGEN:357922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535684 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"}
xref: OMIM:180550 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"}
xref: Orphanet:91481 {source="MONDO:equivalentTo", source="OMIM:180550"}
xref: SCTID:723499000 {source="MONDO:equivalentTo"}
xref: UMLS:C1867155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357922"}
is_a: MONDO:0021220 {source="MONDO:Entailed", source="Orphanet:91481"} ! eye neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9005 {source="MONDO:mim2gene_medgen"} ! PITX2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea" xsd:anyURI {source="GARD:0009696"}

[Term]
id: MONDO:0008388
name: ringed hair disease
def: "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." [Orphanet:169]
subset: gard_rare {source="GARD:4359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169"}
subset: orphanet_rare {source="Orphanet:169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pili annulati" EXACT [OMIM:180600, Orphanet:169]
synonym: "ringed hair" RELATED [OMIM:180600]
xref: GARD:4359 {source="MONDO:GARD"}
xref: ICD10CM:Q84.1 {source="Orphanet:169", source="Orphanet:169/index", source="Orphanet:169/ntbt"}
xref: MEDGEN:75523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537187 {source="Orphanet:169", source="MONDO:equivalentTo", source="Orphanet:169/e"}
xref: OMIM:180600 {source="Orphanet:169", source="MONDO:equivalentTo", source="Orphanet:169/e"}
xref: Orphanet:169 {source="OMIM:180600", source="MONDO:equivalentTo"}
xref: SCTID:21926007 {source="MONDO:equivalentTo"}
xref: UMLS:C0263489 {source="MEDGEN:75523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly

[Term]
id: MONDO:0008389
name: autosomal dominant Robinow syndrome
def: "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:3107]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:3107"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Robinow syndrome" EXACT CLINGEN_LABEL [Orphanet:3107]
synonym: "Robinow syndrome, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
synonym: "Robinow syndrome, autosomal dominant type" EXACT [MONDORULE:1]
xref: GARD:16620 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:3107", source="DOID:0060766", source="Orphanet:3107/attributed", source="Orphanet:3107/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1675001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3107 {source="OMIM:180700", source="MONDO:equivalentTo", source="DOID:0060766"}
xref: Orphanet:97360 {source="OMIM:180700", source="DOID:0060766"}
xref: SCTID:76520005 {source="MONDO:equivalentTo"}
xref: UMLS:C5200540 {source="MEDGEN:1675001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019978 {source="DC-OMIM:180700", source="DOID:0060766", source="MONDO:Redundant", source="OMIM:180700", source="Orphanet:3107"} ! Robinow syndrome
intersection_of: MONDO:0019978 ! Robinow syndrome
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0008390
name: Rombo syndrome
def: "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." [Orphanet:3110]
subset: gard_rare {source="GARD:4738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3110"}
subset: orphanet_rare {source="Orphanet:3110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Rombo syndrome" EXACT [OMIM:180730]
synonym: "vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" RELATED [GARD:0004738]
xref: GARD:4738 {source="MONDO:GARD"}
xref: ICD10CM:L98.8 {source="Orphanet:3110/attributed", source="Orphanet:3110/ntbt", source="Orphanet:3110"}
xref: MEDGEN:356704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535870 {source="Orphanet:3110/e", source="MONDO:equivalentTo", source="Orphanet:3110"}
xref: OMIM:180730 {source="Orphanet:3110/e", source="MONDO:equivalentTo", source="Orphanet:3110"}
xref: Orphanet:3110 {source="OMIM:180730", source="MONDO:equivalentTo"}
xref: SCTID:721904001 {source="MONDO:equivalentTo"}
xref: UMLS:C1867147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356704"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="PMID:6177160", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:3110", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome" xsd:anyURI {source="GARD:0004738"}

[Term]
id: MONDO:0008391
name: Robinow-Sorauf syndrome
subset: gard_rare {source="GARD:4730", source="MONDO:GARD"}
subset: rare
synonym: "acrocephalosyndactyly, Robinow-Sorauf type" RELATED [OMIM:180750]
synonym: "craniosynostosis-bifid hallux syndrome" RELATED [OMIM:180750]
synonym: "Robinow-Sorauf syndrome" EXACT [OMIM:180750]
xref: GARD:4730 {source="MONDO:GARD"}
xref: MEDGEN:356703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537183 {source="MONDO:equivalentTo"}
xref: OMIM:180750 {source="MONDO:equivalentTo"}
xref: Orphanet:3106 {source="OMIM:180750", source="MONDO:equivalentObsolete"}
xref: UMLS:C1867146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356703"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12428 {source="MONDO:mim2gene_medgen"} ! TWIST1

[Term]
id: MONDO:0008392
name: Roussy-Levy syndrome
subset: gard_rare {source="GARD:4741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1679"}
subset: ordo_disorder {source="Orphanet:3115"}
subset: orphanet_rare {source="Orphanet:3115"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease (variant)" RELATED [GARD:0004741]
synonym: "Charcot-Marie-Tooth-Roussy-levy disease" RELATED [GARD:0004741]
synonym: "hereditary areflexic dystasia" RELATED [GARD:0004741]
synonym: "hereditary areflexic dystasia, Roussy-levy type" EXACT [Orphanet:3115]
synonym: "hereditary areflexic dystasia, Roussy-Lévy type" EXACT [Orphanet:3115]
synonym: "hereditary motor sensory neuropathy I" RELATED [GARD:0004741]
synonym: "HMSN I" RELATED [GARD:0004741]
synonym: "Roussy levy hereditary areflexic dystasia" RELATED [GARD:0004741]
synonym: "Roussy levy syndrome" EXACT [GARD:0004741]
synonym: "Roussy Lévy Syndrome" EXACT [NORD:1679]
synonym: "Roussy-levy disease" EXACT [GARD:0004741]
synonym: "Roussy-levy hereditary areflexic dystasia" RELATED [OMIM:180800]
synonym: "Roussy-levy syndrome" EXACT [OMIM:180800]
synonym: "Roussy-Lévy syndrome" EXACT [Orphanet:3115]
xref: GARD:4741 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:3115/attributed", source="Orphanet:3115/ntbt", source="Orphanet:3115"}
xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:64430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1679 {source="MONDO:NORD"}
xref: OMIM:180800 {source="Orphanet:3115", source="MONDO:equivalentTo", source="Orphanet:3115/e"}
xref: Orphanet:3115 {source="MONDO:equivalentTo", source="OMIM:180800"}
xref: SCTID:45853006 {source="MONDO:equivalentTo"}
xref: UMLS:C0205713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64430"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008393
name: Rubinstein-Taybi syndrome due to CREBBP mutations
def: "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17534", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:353277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "broad thumb-hallux syndrome" RELATED [OMIM:180849]
synonym: "broad thumbs and great toes, characteristic facies, and intellectual disability" RELATED [OMIM:180849]
synonym: "broad thumbs and great toes, characteristic facies, and mental retardation" RELATED DEPRECATED [OMIM:180849]
synonym: "CREBBP Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "RSTS" RELATED ABBREVIATION [OMIM:180849]
synonym: "RSTS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180849]
synonym: "Rubinstein syndrome" RELATED [OMIM:180849]
synonym: "Rubinstein-Taybi syndrome 1" EXACT [MONDO:Lexical, OMIM:180849]
synonym: "Rubinstein-Taybi syndrome caused by mutation in CREBBP" EXACT []
synonym: "Rubinstein-Taybi syndrome due to CREBBP mutations" EXACT CLINGEN_LABEL []
synonym: "Rubinstein-Taybi syndrome type 1" EXACT [MONDORULE:1, OMIM:180849]
xref: GARD:17534 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:353277", source="Orphanet:353277/attributed", source="Orphanet:353277/ntbt"}
xref: MEDGEN:1639327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C153290 {source="MONDO:equivalentTo"}
xref: OMIM:180849 {source="Orphanet:353277", source="MONDO:equivalentTo", source="Orphanet:353277/e"}
xref: Orphanet:353277 {source="MONDO:equivalentTo", source="OMIM:180849"}
xref: Orphanet:783 {source="OMIM:180849"}
xref: UMLS:C4551859 {source="MONDO:equivalentTo", source="MEDGEN:1639327", source="MONDO:MEDGEN"}
is_a: MONDO:0019188 {source="DC-OMIM:180849", source="OMIM:180849", source="Orphanet:353277"} ! Rubinstein-Taybi syndrome
intersection_of: MONDO:0019188 ! Rubinstein-Taybi syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2348 ! CREBBP
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:180849"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2348 {source="MONDO:mim2gene_medgen"} ! CREBBP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008394
name: Silver-Russell syndrome
def: "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." [Orphanet:813]
subset: gard_rare {source="GARD:4870", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1683"}
subset: ordo_disorder {source="Orphanet:813"}
subset: orphanet_rare {source="Orphanet:813"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Russell Silver syndrome" EXACT [GARD:0004870]
synonym: "Russell-Silver dwarfism" EXACT [NCIT:C85068]
synonym: "Russell-Silver Syndrome" EXACT [NORD:1683]
synonym: "Russell-Silver syndrome" EXACT [OMIM:180860]
synonym: "Silver Russell dwarfism" EXACT [DOID:14681]
synonym: "Silver Russell syndrome" EXACT [GARD:0004870]
synonym: "Silver-Russell dwarfism" EXACT [OMIM:180860, Orphanet:813]
synonym: "Silver-Russell syndrome" EXACT [MONDO:Lexical, OMIM:180860]
synonym: "SRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180860]
xref: DOID:14681 {source="MONDO:equivalentTo"}
xref: GARD:4870 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:813/inclusion", source="DOID:14681", source="Orphanet:813", source="Orphanet:813/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062282 {source="Orphanet:813", source="Orphanet:813/e"}
xref: MEDGEN:104492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056730 {source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813", source="Orphanet:813/e"}
xref: NCIT:C85068 {source="DOID:14681", source="MONDO:equivalentTo"}
xref: NORD:1683 {source="MONDO:NORD"}
xref: OMIMPS:180860 {source="MONDO:equivalentTo"}
xref: Orphanet:813 {source="OMIM:180860", source="MONDO:equivalentTo"}
xref: SCTID:15069006 {source="DOID:14681", source="MONDO:equivalentTo"}
xref: UMLS:C0175693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104492"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85068"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:813"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019040 {source="DOID:14681", source="MESH:D056730"} ! chromosomal disorder
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:813", source="Orphanet:813/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:180860"} ! inherited

[Term]
id: MONDO:0008395
name: Ruvalcaba syndrome
def: "An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." [Orphanet:3121]
subset: gard_rare {source="GARD:4748", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3121"}
subset: ordo_malformation_syndrome {source="Orphanet:3121"}
subset: orphanet_rare {source="Orphanet:3121"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ruvalcaba syndrome" EXACT [OMIM:180870]
xref: GARD:4748 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3121/attributed", source="Orphanet:3121/ntbt", source="Orphanet:3121"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579395 {source="MONDO:equivalentTo"}
xref: OMIM:180870 {source="Orphanet:3121/e", source="MONDO:equivalentTo", source="Orphanet:3121"}
xref: Orphanet:3121 {source="MONDO:equivalentTo", source="OMIM:180870"}
xref: SCTID:3073006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120520"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:3121", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:3121", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome" xsd:anyURI {source="GARD:0004748"}

[Term]
id: MONDO:0008396
name: oculodental syndrome, Rutherfurd type
def: "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." [Orphanet:2709]
subset: gard_rare {source="GARD:212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2709"}
subset: ordo_malformation_syndrome {source="Orphanet:2709"}
subset: orphanet_rare {source="Orphanet:2709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy with gum Hypertrophy" EXACT [OMIM:180900]
synonym: "corneal dystrophy with gum hypertrophy" EXACT [GARD:0000212]
synonym: "gingival hypertrophy corneal dystrophy" EXACT [GARD:0000212]
synonym: "gingival Hypertrophy with corneal dystrophy" EXACT [OMIM:180900]
synonym: "gingival hypertrophy-corneal dystrophy" EXACT [Orphanet:2709]
synonym: "Rutherfurd syndrome" EXACT [OMIM:180900, Orphanet:2709]
xref: GARD:212 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2709", source="Orphanet:2709/attributed", source="Orphanet:2709/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537732 {source="Orphanet:2709", source="MONDO:equivalentTo", source="Orphanet:2709/e"}
xref: OMIM:180900 {source="Orphanet:2709", source="GARD:0000212", source="MONDO:equivalentTo", source="Orphanet:2709/e"}
xref: Orphanet:2709 {source="GARD:0000212", source="MONDO:equivalentTo", source="OMIM:180900"}
xref: SCTID:699754008 {source="MONDO:equivalentTo"}
xref: UMLS:C0796140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163222"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2709", source="Orphanet:2709/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008397
name: aplasia of lacrimal and salivary glands
def: "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." [Orphanet:86815]
subset: gard_rare {source="GARD:16759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86815"}
subset: orphanet_rare {source="Orphanet:86815"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALSG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180920, Orphanet:86815]
synonym: "aplasia of lacrimal and salivary glands" EXACT [MONDO:Lexical, OMIM:180920]
synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT [Orphanet:86815]
synonym: "parotid aplasia or hypoplasia" RELATED [OMIM:180920]
synonym: "salivary glands, absence of" RELATED [OMIM:180920]
synonym: "salivary glands, absence of, include" RELATED [OMIM:180920]
xref: DOID:0111549 {source="MONDO:equivalentTo"}
xref: GARD:16759 {source="MONDO:GARD"}
xref: ICD10CM:Q10.4 {source="Orphanet:86815/nd", source="Orphanet:86815/attributed", source="Orphanet:86815"}
xref: ICD10CM:Q38.4 {source="Orphanet:86815/nd", source="Orphanet:86815/attributed", source="Orphanet:86815"}
xref: icd11.foundation:539255304 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:86815"}
xref: MEDGEN:57641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:180920 {source="Orphanet:86815/e", source="MONDO:equivalentTo", source="Orphanet:86815"}
xref: Orphanet:86815 {source="OMIM:180920", source="MONDO:equivalentTo"}
xref: SCTID:715656004 {source="MONDO:equivalentTo"}
xref: UMLS:C0158667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57641"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3666 {source="MONDO:mim2gene_medgen"} ! FGF10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0008398
name: salivary substance, Clostridium botulinum type
synonym: "salivary substance, Clostridium botulinum type" EXACT [OMIM:180950]
xref: MEDGEN:356679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:180950 {source="MONDO:equivalentTo"}
xref: UMLS:C1867056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356679"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008399
name: sarcoidosis, susceptibility to, 1
def: "Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "Boeck sarcoid" RELATED [OMIM:181000]
synonym: "HLA-DRB1 sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sarcoidosis" BROAD [OMIM:181000]
synonym: "sarcoidosis caused by mutation in HLA-DRB1" EXACT [MONDO:design_pattern]
synonym: "sarcoidosis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:181000]
synonym: "sarcoidosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:181000]
synonym: "SS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181000]
synonym: "susceptibility to sarcoidosis 1" RELATED [OMIM:181000]
xref: ICD9:135 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:394568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:181000 {source="MONDO:equivalentTo"}
xref: Orphanet:797 {source="OMIM:181000"}
xref: UMLS:C2697310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394568"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4948 ! HLA-DRB1
intersection_of: predisposes_towards MONDO:0019338 ! sarcoidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4948 {source="MONDO:mim2gene_medgen"} ! HLA-DRB1

[Term]
id: MONDO:0008400
name: salivary duct calculi
def: "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts." [MESH:D012465]
synonym: "parotid duct calculi" RELATED [OMIM:181010]
synonym: "salivary duct calculi" EXACT [OMIM:181010]
synonym: "submandibular duct calculi" RELATED [OMIM:181010]
xref: MEDGEN:19865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012465 {source="MONDO:equivalentTo"}
xref: OMIM:181010 {source="MONDO:equivalentTo"}
xref: UMLS:C0036089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19865"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008401
name: pleomorphic adenoma
def: "A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma)." [NCIT:P378]
subset: gard_rare {source="GARD:17789", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:454821"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:454821"}
subset: rare
synonym: "adenomas, salivary gland pleomorphic, somatic" EXACT [OMIM:181030, OMIM:genemap2]
synonym: "mixed tumor of the salivary gland" RELATED [DOID:452, NCIT:C35691]
synonym: "mixed tumour of the salivary gland" RELATED OMO:0003005 []
synonym: "pleomorphic adenoma" EXACT [DOID:452, NCIT:C8602]
synonym: "pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:452]
synonym: "pleomorphic salivary gland adenoma" RELATED [Orphanet:454821]
synonym: "Psa" RELATED [OMIM:181030]
synonym: "salivary gland adenoma, pleomorphic" RELATED [OMIM:181030]
synonym: "Sgpa" RELATED [OMIM:181030]
synonym: "tumor, mixed, benign" EXACT [NCIT:C8602]
xref: DOID:452 {source="MONDO:equivalentTo"}
xref: GARD:17789 {source="MONDO:GARD"}
xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="Orphanet:454821", source="Orphanet:454821/ntbt"}
xref: ICDO:8940/0 {source="NCIT:C8602"}
xref: MEDGEN:275400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008949 {source="MONDO:equivalentTo", source="DOID:452"}
xref: NCIT:C35691 {source="DOID:452"}
xref: NCIT:C8602 {source="MONDO:equivalentTo", source="DOID:452"}
xref: OMIM:181030 {source="MONDO:equivalentTo", source="Orphanet:454821", source="DOID:452", source="Orphanet:454821/e"}
xref: Orphanet:454821 {source="MONDO:equivalentTo"}
xref: SCTID:447888006 {source="MONDO:equivalentTo"}
xref: SCTID:8360001 {source="DOID:452"}
xref: UMLS:C1519176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275400"}
is_a: MONDO:0000385 {source="DOID:452"} ! benign digestive system neoplasm
is_a: MONDO:0017168 {source="Orphanet:454821"} ! benign epithelial tumor of salivary glands
is_a: MONDO:0021043 {source="MESH:D008949", source="NCIT:C8602"} ! mixed neoplasm
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9045 {source="MONDO:mim2gene_medgen"} ! PLAG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008402
name: cleft palate-large ears-small head syndrome
def: "Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed." [Orphanet:2013]
subset: gard_rare {source="GARD:162", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2013"}
subset: ordo_malformation_syndrome {source="Orphanet:2013"}
subset: orphanet_rare {source="Orphanet:2013"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate large ears small head" RELATED [GARD:0000162]
synonym: "cleft palate, microcephaly, large ears, and short stature" RELATED [GARD:0000162, OMIM:181180]
synonym: "Say Barber Hobbs syndrome" RELATED [GARD:0000162]
synonym: "SAY syndrome" RELATED [OMIM:181180]
synonym: "Say-Barber-Hobbs syndrome" EXACT [Orphanet:2013]
xref: GARD:162 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2013/attributed", source="Orphanet:2013/ntbt", source="Orphanet:2013"}
xref: MEDGEN:357895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536621 {source="MONDO:equivalentTo"}
xref: OMIM:181180 {source="Orphanet:2013", source="MONDO:equivalentTo", source="Orphanet:2013/e", source="GARD:0000162"}
xref: Orphanet:2013 {source="MONDO:equivalentTo", source="OMIM:181180", source="GARD:0000162"}
xref: SCTID:763130006 {source="MONDO:equivalentTo"}
xref: UMLS:C1867023 {source="MEDGEN:357895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008403
name: scalp defects-postaxial polydactyly syndrome
def: "Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A." [Orphanet:1003]
subset: gard_rare {source="GARD:241", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1003"}
subset: ordo_malformation_syndrome {source="Orphanet:1003"}
subset: orphanet_rare {source="Orphanet:1003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital scalp defects associated with postaxial polydactyly" RELATED [GARD:0000241]
synonym: "scalp defects and postaxial polydactyly" RELATED [OMIM:181250]
synonym: "scalp defects postaxial polydactyly" RELATED [GARD:0000241]
xref: GARD:241 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1003/attributed", source="Orphanet:1003/ntbt", source="Orphanet:1003"}
xref: MEDGEN:401140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536622 {source="Orphanet:1003", source="MONDO:equivalentTo", source="Orphanet:1003/e"}
xref: OMIM:181250 {source="Orphanet:1003", source="MONDO:equivalentTo", source="Orphanet:1003/e"}
xref: Orphanet:1003 {source="MONDO:equivalentTo", source="OMIM:181250"}
xref: UMLS:C1867021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401140"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019294 {source="Orphanet:1003"} ! mixed dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008404
name: scalp-ear-nipple syndrome
def: "Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." [Orphanet:2036]
subset: gard_rare {source="GARD:159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2036"}
subset: ordo_malformation_syndrome {source="Orphanet:2036"}
subset: orphanet_rare {source="Orphanet:2036"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Finlay-Marks syndrome" EXACT [GARD:0000159, OMIM:181270, Orphanet:2036]
synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" RELATED [GARD:0000159]
synonym: "scalp ear nipple syndrome" RELATED [GARD:0000159]
synonym: "scalp-EAR-nipple syndrome" RELATED [OMIM:181270]
synonym: "scalp-ear-nipple syndrome" EXACT [GARD:0000159, MONDO:Lexical, OMIM:181270]
synonym: "Sen syndrome" RELATED [GARD:0000159, OMIM:181270]
synonym: "SENS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181270]
xref: DOID:0111550 {source="MONDO:equivalentTo"}
xref: GARD:159 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2036", source="Orphanet:2036/attributed", source="Orphanet:2036/ntbt"}
xref: MEDGEN:357183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536623 {source="Orphanet:2036", source="MONDO:equivalentTo", source="Orphanet:2036/e"}
xref: OMIM:181270 {source="Orphanet:2036", source="MONDO:equivalentTo", source="GARD:0000159", source="Orphanet:2036/e"}
xref: Orphanet:2036 {source="MONDO:equivalentTo", source="GARD:0000159", source="OMIM:181270"}
xref: SCTID:721888002 {source="MONDO:equivalentTo"}
xref: UMLS:C1867020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357183"}
is_a: MONDO:0015161 {source="Orphanet:2036"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019287 {source="Orphanet:2036"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019294 {source="Orphanet:2036"} ! mixed dermis disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18249 {source="MONDO:mim2gene_medgen"} ! KCTD1

[Term]
id: MONDO:0008405
name: obsolete scapula, contour of vertebral border of
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "scapula, contour of vertebral border of" EXACT [OMIM:181300]
xref: OMIM:181300 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008406
name: obsolete autosomal recessive Emery-Dreifuss muscular dystrophy
def: "OBSOLETE. Autosomal recessive form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_recessive]
subset: ordo_subtype_of_a_disorder {source="Orphanet:98855"}
subset: otar {source="MONDO:OTAR"}
synonym: "EDMD3" EXACT ABBREVIATION [Orphanet:98855]
synonym: "Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:16866 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.0 {source="Orphanet:98855/attributed", source="Orphanet:98855/ntbt", source="Orphanet:98855"}
xref: MESH:D020389 {source="Orphanet:98855", source="Orphanet:98855/e"}
xref: Orphanet:98855 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008407
name: neurogenic scapuloperoneal syndrome, Kaeser type
subset: gard_rare {source="GARD:10312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85146"}
subset: orphanet_rare {source="Orphanet:85146"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146]
synonym: "scapuloperoneal syndrome, neurogenic type, of Kaeser" RELATED [OMIM:181400]
synonym: "scapuloperoneal syndrome, neurogenic, Kaeser type" RELATED [MONDO:Lexical, OMIM:181400]
synonym: "SCPNK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181400]
synonym: "stark-Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146]
xref: DOID:0111551 {source="MONDO:equivalentTo"}
xref: GARD:10312 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:85146/ntbt", source="Orphanet:85146", source="Orphanet:85146/inclusion"}
xref: MEDGEN:356670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566695 {source="MONDO:equivalentTo"}
xref: OMIM:181400 {source="Orphanet:85146", source="MONDO:equivalentTo", source="Orphanet:85146/e"}
xref: Orphanet:85146 {source="OMIM:181400", source="MONDO:equivalentTo"}
xref: UMLS:C1867005 {source="MEDGEN:356670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016187 {source="Orphanet:85146"} ! qualitative or quantitative defects of desmin
is_a: MONDO:0020128 {source="MESH:C566695/inferred", source="Orphanet:85146", source="Orphanet:85146/inferred"} ! motor neuron disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 {source="MONDO:mim2gene_medgen"} ! DES
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type" xsd:anyURI {source="GARD:0010312"}

[Term]
id: MONDO:0008408
name: scapuloperoneal spinal muscular atrophy, autosomal dominant
subset: gard_rare {source="GARD:10314", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431255"}
subset: orphanet_rare {source="Orphanet:431255"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyotrophy, neurogenic scapuloperoneal, New England type" RELATED [OMIM:181405]
synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [Orphanet:431255]
synonym: "scapuloperoneal neuronopathy" EXACT [Orphanet:431255]
synonym: "scapuloperoneal spinal muscular atrophy" EXACT [MONDO:Lexical, OMIM:181405]
synonym: "SPSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181405, Orphanet:431255]
xref: DOID:0111552 {source="MONDO:equivalentTo"}
xref: EFO:1001992 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10314 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:431255/ntbt", source="Orphanet:431255", source="Orphanet:431255/inclusion"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:148283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:181405 {source="Orphanet:431255", source="MONDO:equivalentTo", source="Orphanet:431255/e"}
xref: Orphanet:431255 {source="MONDO:equivalentTo", source="OMIM:181405"}
xref: SCTID:230248006 {source="MONDO:equivalentTo"}
xref: UMLS:C0751335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148283"}
is_a: MONDO:0001516 {source="OMIM:181405/inferred", source="Orphanet:431255", source="Orphanet:431255/inferred"} ! spinal muscular atrophy
relationship: has_characteristic HP:0000006 {source="OMIM:181405"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4

[Term]
id: MONDO:0008409
name: congenital myopathy 7A, myosin storage, autosomal dominant
subset: gard_rare {source="GARD:15429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:636965"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant myosin storage myopathy" EXACT [Orphanet:636965]
synonym: "MSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608358]
synonym: "MYH7-related late-onset scapuloperoneal muscular dystrophy" EXACT DEPRECATED [Orphanet:437572]
synonym: "MYH7-related late-onset scapuloperoneal syndrome" EXACT DEPRECATED [Orphanet:437572]
synonym: "MYH7-related late-onset SPMD" EXACT DEPRECATED [Orphanet:437572]
synonym: "MYH7-related scapuloperoneal myopathy" EXACT [GARD:0010313]
synonym: "myopathy with lysis of type 1 myofibrils" EXACT [OMIM:608358]
synonym: "myopathy, hyaline body, autosomal dominant" EXACT [OMIM:608358]
synonym: "myopathy, myosin storage, autosomal dominant" EXACT [MONDO:Lexical, OMIM:608358]
synonym: "scapuloperoneal muscular dystrophy" EXACT [OMIM:181430]
synonym: "scapuloperoneal myopathy, MYH7-related" EXACT [MONDO:Lexical, OMIM:181430]
synonym: "scapuloperoneal syndrome, myopathic type" EXACT [OMIM:181430]
synonym: "SPMD" EXACT ABBREVIATION [GARD:0010313]
synonym: "SPMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181430]
xref: DOID:0111269 {source="MONDO:equivalentTo"}
xref: GARD:15429 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:437572/attributed", source="Orphanet:437572/ntbt", source="Orphanet:437572"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:374868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564253 {source="MONDO:equivalentTo"}
xref: OMIM:181430 {source="Orphanet:437572/e", source="MONDO:equivalentObsolete", source="Orphanet:437572"}
xref: OMIM:608358 {source="MONDO:equivalentTo"}
xref: Orphanet:437572 {source="MONDO:equivalentObsolete"}
xref: Orphanet:53698 {source="OMIM:608358"}
xref: Orphanet:636965 {source="MONDO:equivalentTo"}
xref: SCTID:129620000
xref: SCTID:699267007
xref: UMLS:C1842160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374868"}
is_a: MONDO:0000727 {source="DC-OMIM:181430", source="OMIM:181430"} ! scapuloperoneal myopathy
is_a: MONDO:0016106 ! progressive muscular dystrophy
is_a: MONDO:0016195 {source="Orphanet:437572"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a: MONDO:0019952 {source="OMIM:608358"} ! congenital myopathy
relationship: disease_has_feature HP:0100306 ! Muscle fiber hyaline bodies
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6045" xsd:anyURI

[Term]
id: MONDO:0008410
name: Scheuermann disease
def: "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." [NCIT:P378]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:3135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Calve's disease" EXACT [NCIT:C34999]
synonym: "familial Scheuermann disease" RELATED [Orphanet:3135]
synonym: "familial Scheuermann juvenile kyphosis" EXACT [Orphanet:3135]
synonym: "familial spinal osteochondrosis" EXACT [Orphanet:3135]
synonym: "juvenile kyphosis" RELATED [GARD:0007610]
synonym: "juvenile osteochondritis of the spine" EXACT [DOID:13300]
synonym: "juvenile osteochondrosis of Scheurermann" EXACT [DOID:13300]
synonym: "juvenile osteochondrosis of spine" EXACT [DOID:13300, ICD9CM:732.0]
synonym: "Scheuermann disease" EXACT [DOID:13300, OMIM:181440]
synonym: "Scheuermann juvenile kyphosis" RELATED [OMIM:181440]
synonym: "Scheuermann kyphosis" RELATED [GARD:0007610]
synonym: "Scheuermann's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Scheuermann's kyphosis" EXACT [DOID:13300]
synonym: "Sherman's disease" EXACT [DOID:13300]
synonym: "spinal Osteochondrosis" RELATED [OMIM:181440]
xref: DOID:13300 {source="MONDO:equivalentTo"}
xref: ICD10CM:M42.0 {source="Orphanet:3135/attributed", source="Orphanet:3135/ntbt", source="Orphanet:3135", source="DOID:13300"}
xref: ICD10CM:M42.00 {source="DOID:13300"}
xref: ICD9:732.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13300"}
xref: MEDGEN:19885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012544 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:13300"}
xref: NCIT:C34999 {source="MONDO:equivalentTo", source="DOID:13300"}
xref: OMIM:181440 {source="Orphanet:3135", source="MONDO:equivalentTo", source="Orphanet:3135/e", source="DOID:13300"}
xref: Orphanet:3135 {source="MONDO:equivalentObsolete", source="OMIM:181440"}
xref: SCTID:156816000 {source="DOID:13300"}
xref: SCTID:203361005 {source="DOID:13300"}
xref: SCTID:203362003 {source="DOID:13300"}
xref: SCTID:203364002 {source="DOID:13300"}
xref: SCTID:203415006 {source="DOID:13300"}
xref: SCTID:53406005 {source="MONDO:equivalentTo", source="DOID:13300"}
xref: UMLS:C0036310 {source="MONDO:equivalentTo", source="MEDGEN:19885", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018381 {source="DOID:13300", source="EFO:0008576", source="MONDO:Redundant", source="NCIT:C34999/inferred", source="Orphanet:3135", source="Orphanet:3135/inferred"} ! osteochondrosis
relationship: disease_has_feature HP:0010885 ! Avascular necrosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008411
name: ulnar-mammary syndrome
def: "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." [Orphanet:3138]
subset: gard_rare {source="GARD:118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1695"}
subset: ordo_disorder {source="Orphanet:3138"}
subset: ordo_malformation_syndrome {source="Orphanet:3138"}
subset: orphanet_rare {source="Orphanet:3138"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pallister ulnar-mammary syndrome" EXACT [DOID:0060614, Orphanet:3138]
synonym: "Schinzel Syndrome" EXACT [NORD:1695]
synonym: "Schinzel syndrome" EXACT [DOID:0060614, OMIM:181450, Orphanet:3138]
synonym: "ulnar-mammary syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:181450]
synonym: "ulnar-mammary syndrome of Pallister" RELATED [GARD:0000118]
synonym: "ums" EXACT [MONDO:Lexical, OMIM:181450, Orphanet:3138]
xref: DOID:0060614 {source="MONDO:equivalentTo"}
xref: GARD:118 {source="MONDO:GARD"}
xref: ICD10CM:Q71.8 {source="Orphanet:3138/attributed", source="Orphanet:3138/ntbt", source="Orphanet:3138", source="DOID:0060614"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:357886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536937 {source="Orphanet:3138", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614"}
xref: NORD:1695 {source="MONDO:NORD"}
xref: OMIM:181450 {source="Orphanet:3138", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614"}
xref: Orphanet:3138 {source="MONDO:equivalentTo", source="DOID:0060614", source="OMIM:181450"}
xref: SCTID:700211007 {source="MONDO:equivalentTo"}
xref: UMLS:C1866994 {source="MONDO:equivalentTo", source="MEDGEN:357886", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:3138"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11602 {source="MONDO:mim2gene_medgen"} ! TBX3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome" xsd:anyURI {source="GARD:0000118"}

[Term]
id: MONDO:0008412
name: intestinal schistosomiasis
def: "An intestinal infection that is caused by Schistosoma japonicum." [NCIT:C35001]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Katayama fever" EXACT [DOID:0050597]
synonym: "Schistosoma japonicum infection" RELATED EXCLUDE [DOID:0050597]
synonym: "Schistosoma mansoni infection, susceptibility/resistance to" RELATED [OMIM:181460]
synonym: "Schistosoma mansoni infectious disease" RELATED EXCLUDE [DOID:0050597]
synonym: "Schistosoma mansoni, intensity of infection by" RELATED [OMIM:181460]
synonym: "schistosomiasis japonica" EXACT [DOID:0050597]
xref: DOID:0050597 {source="MONDO:equivalentTo"}
xref: ICD10CM:B65.1 {source="DOID:0050597"}
xref: ICD10CM:B65.2 {source="DOID:0050597"}
xref: ICD9:120.1 {source="DOID:0050597"}
xref: ICD9:120.2 {source="DOID:0050597"}
xref: MEDGEN:116602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012554 {source="DOID:0050597", source="MONDO:directSiblingOf"}
xref: MESH:D012555 {source="DOID:0050597", source="MONDO:directSiblingOf"}
xref: NCIT:C35001 {source="DOID:0050597", source="MONDO:directSiblingOf"}
xref: NCIT:C35002 {source="DOID:0050597", source="MONDO:directSiblingOf"}
xref: NCIT:C35364 {source="DOID:0050597", source="MONDO:directSiblingOf"}
xref: Orphanet:1247 {source="DOID:0050597", source="OMIM:181460"}
xref: SCTID:187114003 {source="DOID:0050597"}
xref: SCTID:240796008 {source="MONDO:equivalentTo"}
xref: SCTID:268058007 {source="DOID:0050597", source="MONDO:directSiblingOf"}
xref: SCTID:52179003 {source="DOID:0050597", source="MONDO:directSiblingOf"}
xref: SCTID:6421008 {source="DOID:0050597"}
xref: SCTID:750009 {source="DOID:0050597", source="MONDO:directSiblingOf"}
xref: UMLS:C0242497 {source="MEDGEN:116602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015254 {source="DOID:0050597", source="MONDO:Redundant"} ! schistosomiasis
intersection_of: MONDO:0015254 ! schistosomiasis
intersection_of: disease_has_location UBERON:0000160 ! intestine
relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly
relationship: disease_has_feature HP:0001880 ! Eosinophilia
relationship: disease_has_feature HP:0002573 ! Hematochezia

[Term]
id: MONDO:0008413
name: obsolete schizophrenia
is_obsolete: true
replaced_by: MONDO:0005090

[Term]
id: MONDO:0008414
name: schizophrenia 1
def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35." [DOID:0070077]
synonym: "schizophrenia 1" EXACT [MONDO:Lexical, OMIM:181510]
synonym: "schizophrenia 1 with or without an affective disorder" RELATED [OMIM:181510]
synonym: "schizophrenia susceptibility locus, chromosome 5-related" RELATED [OMIM:181510]
synonym: "SCZD1" EXACT ABBREVIATION [DOID:0070077, MONDO:Lexical, OMIM:181510]
xref: DOID:0070077 {source="MONDO:equivalentTo"}
xref: MEDGEN:65084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:181510 {source="DOID:0070077", source="MONDO:equivalentTo"}
xref: UMLS:C0220702 {source="MONDO:equivalentTo", source="MEDGEN:65084", source="MONDO:MEDGEN"}
is_a: MONDO:0005090 {source="DC-OMIM:181510", source="DOID:0070077"} ! schizophrenia

[Term]
id: MONDO:0008415
name: obsolete Scholte syndrome
comment: Replaced by https://omim.org/entry/300977 in OMIM
xref: OMIM:181515 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
replaced_by: MONDO:0010505

[Term]
id: MONDO:0008416
name: palmoplantar keratoderma-sclerodactyly syndrome
subset: gard_rare {source="GARD:8517", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:384"}
subset: orphanet_rare {source="Orphanet:384"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles" RELATED [GARD:0008517]
synonym: "HRZ" RELATED ABBREVIATION [GARD:0008517, OMIM:181600]
synonym: "HURIEZ syndrome" RELATED [OMIM:181600]
synonym: "Huriez syndrome" EXACT [OMIM:181600, Orphanet:384]
synonym: "palmoplantar hyperkeratosis-sclerodactyly syndrome" EXACT [Orphanet:384]
synonym: "Scleroatrophic and keratotic dermatosis of limbs" RELATED [OMIM:181600]
synonym: "Scleroatrophic syndrome" EXACT [Orphanet:384]
synonym: "SCLEROTYLOSIS" RELATED ABBREVIATION [OMIM:181600]
synonym: "Sclerotylosis" EXACT [Orphanet:384]
synonym: "Tys" RELATED [OMIM:181600]
xref: GARD:8517 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:384", source="Orphanet:384/attributed", source="Orphanet:384/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537526 {source="MONDO:equivalentTo"}
xref: OMIM:181600 {source="Orphanet:384/e", source="MONDO:equivalentTo", source="Orphanet:384"}
xref: Orphanet:384 {source="OMIM:181600", source="MONDO:equivalentTo"}
xref: SCTID:239076000 {source="MONDO:equivalentTo"}
xref: UMLS:C0406767 {source="MEDGEN:98360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8517/palmoplantar-keratoderma-sclerodactyly-syndrome" xsd:anyURI {source="GARD:0008517"}

[Term]
id: MONDO:0008417
name: sclerocornea, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sclerocornea, autosomal dominant" EXACT [OMIM:181700]
xref: MEDGEN:356662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566692 {source="MONDO:equivalentTo"}
xref: OMIM:181700 {source="MONDO:equivalentTo"}
xref: Orphanet:91490 {source="OMIM:181700"}
xref: UMLS:C1866984 {source="MEDGEN:356662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019629 {source="Orphanet:91490/btnt"} ! sclerocornea

[Term]
id: MONDO:0008418
name: scleroderma, familial progressive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Crest syndrome" RELATED [OMIM:181750]
synonym: "scleroderma, familial progressive" EXACT [OMIM:181750]
synonym: "systemic sclerosis, susceptibility to" RELATED [OMIM:181750]
xref: MEDGEN:356661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:181750 {source="MONDO:equivalentTo"}
xref: Orphanet:90290 {source="MONDO:directSiblingOf", source="OMIM:181750"}
xref: Orphanet:90291 {source="OMIM:181750"}
xref: UMLS:C1866983 {source="MEDGEN:356661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005100 {source="OMIM:181750", source="Orphanet:90291/btnt"} ! systemic sclerosis

[Term]
id: MONDO:0008419
name: scoliosis, isolated, susceptibility to, 1
subset: predisposition
synonym: "adolescent idiopathic scoliosis" RELATED [OMIM:181800]
synonym: "adolescent isolated scoliosis" RELATED [OMIM:181800]
synonym: "IS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181800]
synonym: "scoliosis, idiopathic 1" EXACT [OMIM:181800, OMIM:genemap2]
synonym: "scoliosis, isolated, susceptibility to, 1" EXACT [OMIM:181800]
xref: MEDGEN:438003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:181800 {source="MONDO:equivalentTo"}
xref: UMLS:C2700406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:438003"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008420
name: seborrheic keratosis
def: "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "basal cell papilloma" EXACT [NCIT:C9006]
synonym: "keratosis Seborrheica" EXACT [NCIT:C9006]
synonym: "keratosis, seborrheic" RELATED [OMIM:182000]
synonym: "keratosis, seborrheic, somatic" EXACT [OMIM:182000, OMIM:genemap2]
xref: DOID:6498 {source="MONDO:equivalentTo", source="EFO:0005584"}
xref: EFO:0005584 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L82 {source="DOID:6498", source="MONDO:equivalentTo"}
xref: ICD10CM:L82.1 {source="DOID:6498"}
xref: ICD9:702.1 {source="DOID:6498", source="EFO:0005584"}
xref: MEDGEN:5957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017492 {source="DOID:6498", source="MONDO:equivalentTo", source="EFO:0005584"}
xref: NCIT:C9006 {source="DOID:6498", source="MONDO:equivalentTo", source="EFO:0005584"}
xref: OMIM:182000 {source="DOID:6498", source="MONDO:equivalentTo", source="EFO:0005584"}
xref: SCTID:156400006 {source="DOID:6498"}
xref: SCTID:201096007 {source="DOID:6498"}
xref: SCTID:201107006 {source="DOID:6498"}
xref: SCTID:25499005 {source="DOID:6498", source="EFO:0005584"}
xref: SCTID:267860005 {source="DOID:6498"}
xref: SCTID:394726009 {source="DOID:6498"}
xref: SCTID:394727000 {source="DOID:6498"}
xref: SCTID:398838000 {source="DOID:6498", source="MONDO:relatedTo", source="EFO:0005584"}
xref: SCTID:50563003 {source="DOID:6498"}
xref: UMLS:C0022603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5957"}
xref: Wikipedia:Seborrheic_keratosis {source="EFO:0005584"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0006566 {source="DOID:6498", source="MESH:D017492"} ! keratosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008421
name: flat face-microstomia-ear anomaly syndrome
def: "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994." [Orphanet:1968]
subset: gard_rare {source="GARD:4873", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1968"}
subset: ordo_malformation_syndrome {source="Orphanet:1968"}
subset: orphanet_rare {source="Orphanet:1968"}
subset: rare
synonym: "blepharophimosis-telecanthus-microstomia syndrome" EXACT [Orphanet:1968]
synonym: "Simosa cranio facial syndrome" RELATED [GARD:0004873]
synonym: "SIMOSA craniofacial syndrome" RELATED [OMIM:182150]
synonym: "Simosa-Penchaszadeh-Bustos syndrome" EXACT [Orphanet:1968]
xref: GARD:4873 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1968/attributed", source="Orphanet:1968/ntbt", source="Orphanet:1968"}
xref: MEDGEN:356655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537339 {source="MONDO:equivalentTo"}
xref: OMIM:182150 {source="Orphanet:1968/e", source="MONDO:equivalentTo", source="Orphanet:1968"}
xref: Orphanet:1968 {source="MONDO:equivalentTo", source="OMIM:182150"}
xref: UMLS:C1866962 {source="MEDGEN:356655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:1968"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1968", source="Orphanet:1968/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008422
name: autosomal dominant sideroblastic anemia
def: "Autosomal dominant form of sideroblastic anemia." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:18380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anemia, sideroblastic, 4" RELATED [OMIM:182170]
synonym: "anemia, sideroblastic, autosomal dominant" RELATED [OMIM:182170]
synonym: "SIDBA4" RELATED ABBREVIATION [OMIM:182170]
synonym: "sideroblastic anemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0060335 {source="MONDO:equivalentTo"}
xref: GARD:18380 {source="MONDO:GARD"}
xref: MEDGEN:902781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567160 {source="MONDO:equivalentTo"}
xref: OMIM:182170 {source="MONDO:equivalentTo", source="DOID:0060335"}
xref: UMLS:C4225428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902781"}
is_a: MONDO:0015194 {source="DC-OMIM:182170", source="DOID:0060335", source="MESH:C567160", source="MONDO:Redundant", source="OMIM:182170"} ! sideroblastic anemia
intersection_of: MONDO:0015194 ! sideroblastic anemia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5244 {source="MONDO:mim2gene_medgen"} ! HSPA9

[Term]
id: MONDO:0008423
name: sinus node disease and myopia
subset: gard_rare {source="GARD:4880", source="MONDO:GARD"}
subset: rare
synonym: "sick sinus syndrome and myopia" RELATED [OMIM:182190]
synonym: "sinus node disease and myopia" EXACT [OMIM:182190]
synonym: "Sss-myopia syndrome" RELATED [OMIM:182190]
xref: GARD:4880 {source="MONDO:GARD"}
xref: MEDGEN:401121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566690 {source="MONDO:equivalentTo"}
xref: OMIM:182190 {source="MONDO:equivalentTo"}
xref: Orphanet:166282 {source="OMIM:182190"}
xref: UMLS:C1866960 {source="MEDGEN:401121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012061 {source="Orphanet:166282/btnt"} ! familial sick sinus syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia" xsd:anyURI {source="GARD:0004880"}

[Term]
id: MONDO:0008424
name: sella turcica, bridged
synonym: "sella turcica, bridged" EXACT [OMIM:182200]
xref: MEDGEN:356654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566689 {source="MONDO:equivalentTo"}
xref: OMIM:182200 {source="MONDO:equivalentTo"}
xref: UMLS:C1866959 {source="MONDO:equivalentTo", source="MEDGEN:356654", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008425
name: omphalocele syndrome, Shprintzen-Goldberg type
def: "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." [Orphanet:3164]
subset: gard_rare {source="GARD:9850", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3164"}
subset: ordo_malformation_syndrome {source="Orphanet:3164"}
subset: orphanet_rare {source="Orphanet:3164"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "laryngeal and pharyngeal hypoplasia with omphalocele" RELATED [GARD:0009850]
synonym: "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis" RELATED [OMIM:182210]
synonym: "omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies" RELATED [GARD:0009850]
synonym: "pharynx and larynx hypoplasia with omphalocele" RELATED [OMIM:182210]
synonym: "Shprintzen omphalocele syndrome" RELATED [OMIM:182210]
synonym: "Shprintzen-Goldberg omphalocele syndrome" RELATED [GARD:0009850]
xref: GARD:9850 {source="MONDO:GARD"}
xref: ICD10CM:Q79.2 {source="Orphanet:3164/attributed", source="Orphanet:3164/ntbt", source="Orphanet:3164"}
xref: MEDGEN:356653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537329 {source="MONDO:equivalentTo"}
xref: OMIM:182210 {source="Orphanet:3164/e", source="MONDO:equivalentTo", source="Orphanet:3164"}
xref: Orphanet:3164 {source="MONDO:equivalentTo", source="OMIM:182210"}
xref: SCTID:716230005 {source="MONDO:equivalentTo"}
xref: UMLS:C1866958 {source="MEDGEN:356653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:3164"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3164", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008426
name: Shprintzen-Goldberg syndrome
def: "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." [Orphanet:2462]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4861", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1908"}
subset: ordo_disorder {source="Orphanet:2462"}
subset: ordo_malformation_syndrome {source="Orphanet:2462"}
subset: orphanet_rare {source="Orphanet:2462"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis with arachnodactyly and abdominal hernias" RELATED [OMIM:182212]
synonym: "Marfanoid craniosynostosis syndrome" EXACT [OMIM:182212, Orphanet:2462]
synonym: "Marfanoid disorder with craniosynostosis type 1" RELATED [GARD:0004861]
synonym: "Marfanoid disorder with craniosynostosis, type 1" RELATED [OMIM:182212]
synonym: "Marfanoid-craniosynostosis syndrome" RELATED [GARD:0004861]
synonym: "SGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182212, Orphanet:2462]
synonym: "Shprintzen Goldberg Syndrome" EXACT [NORD:1908]
synonym: "Shprintzen-Goldberg craniosynostosis syndrome" RELATED [MONDO:Lexical, OMIM:182212]
synonym: "Shprintzen-Goldberg marfanoid syndrome" RELATED [GARD:0004861]
synonym: "Shprintzen-Goldberg syndrome" EXACT CLINGEN_LABEL []
xref: GARD:4861 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2462", source="Orphanet:2462/attributed", source="Orphanet:2462/ntbt"}
xref: MEDGEN:231160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537328 {source="Orphanet:2462", source="Orphanet:2462/e"}
xref: NCIT:C124840 {source="MONDO:equivalentTo"}
xref: NORD:1908 {source="MONDO:NORD"}
xref: OMIM:182212 {source="Orphanet:2462", source="MONDO:equivalentTo", source="Orphanet:2462/e"}
xref: Orphanet:2462 {source="MONDO:equivalentTo", source="OMIM:182212"}
xref: SCTID:719069008 {source="MONDO:equivalentTo"}
xref: UMLS:C1321551 {source="MEDGEN:231160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C124840"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015159 {source="Orphanet:2462"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:2462", source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis
is_a: MONDO:0017310 {source="Orphanet:2462"} ! Marfan and Marfan-related disorder
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2462", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10896 {source="MONDO:mim2gene_medgen"} ! SKI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0008427
name: sister chromatid exchange, frequency of
synonym: "SCE, frequency of" RELATED [OMIM:182220]
synonym: "sister chromatid exchange, frequency of" EXACT [OMIM:182220]
xref: MEDGEN:357877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:182220 {source="MONDO:equivalentTo"}
xref: UMLS:C1866942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357877"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008428
name: septooptic dysplasia
def: "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." [Orphanet:3157]
subset: gard_rare {source="GARD:7627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3157"}
subset: ordo_malformation_syndrome {source="Orphanet:3157"}
subset: orphanet_rare {source="Orphanet:3157"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "De Morsier syndrome" EXACT [DOID:0060857, OMIM:182230, Orphanet:3157]
synonym: "Growth hormone deficiency with pituitary anomalies" RELATED [OMIM:182230]
synonym: "hypopituitarism and septooptic 'dysplasia'" RELATED [GARD:0007627]
synonym: "pituitary hormone deficiency, combined, 5" RELATED [OMIM:182230]
synonym: "septo-optic dysplasia" EXACT [DOID:0060857, Orphanet:3157]
synonym: "septo-optic dysplasia sequence" EXACT [NCIT:C85063]
synonym: "septo-optic dysplasia spectrum" RELATED [Orphanet:3157]
synonym: "septo-optic dysplasia with growth hormone deficiency" RELATED [GARD:0007627]
synonym: "septooptic dysplasia" EXACT [OMIM:182230]
synonym: "SOD" EXACT ABBREVIATION [DOID:0060857, Orphanet:3157]
xref: DOID:0060857 {source="MONDO:equivalentTo"}
xref: GARD:7627 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:3157/attributed", source="Orphanet:3157/ntbt", source="Orphanet:3157", source="DOID:0060857"}
xref: MedDRA:10067159 {source="Orphanet:3157", source="Orphanet:3157/e"}
xref: MEDGEN:90926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D025962 {source="Orphanet:3157", source="MONDO:equivalentTo", source="Orphanet:3157/e", source="DOID:0060857"}
xref: NANDO:1200560 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200561 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200820 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85063 {source="MONDO:equivalentTo"}
xref: OMIM:182230 {source="Orphanet:3157", source="MONDO:equivalentTo", source="Orphanet:3157/e", source="DOID:0060857"}
xref: Orphanet:3157 {source="MONDO:equivalentTo", source="DOID:0060857", source="OMIM:182230"}
xref: Orphanet:95494 {source="OMIM:182230"}
xref: SCTID:7611002 {source="MONDO:equivalentTo"}
xref: UMLS:C0338503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90926"}
is_a: MONDO:0000429 {source="DOID:0060857"} ! autosomal genetic disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85063"} ! syndromic disease
is_a: MONDO:0013099 {source="OMIM:182230", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form
relationship: excluded_subClassOf MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:3157", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic developmental defect of the eye
relationship: excluded_subClassOf MONDO:0015220 {source="MONDO:0017120-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with a central nervous system malformation as major feature
relationship: excluded_subClassOf MONDO:0015310 {source="Orphanet:3157", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic optic nerve hypoplasia
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0019827 {source="Orphanet:3157", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disease associated with non-acquired combined pituitary hormone deficiency
relationship: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete developmental defect of the eye
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4877 {source="MONDO:mim2gene_medgen"} ! HESX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI

[Term]
id: MONDO:0008429
name: Singleton-Merten dysplasia
def: "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." [Orphanet:85191]
subset: gard_rare {source="GARD:122", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1718", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85191"}
subset: ordo_malformation_syndrome {source="Orphanet:85191"}
subset: orphanet_rare {source="Orphanet:85191"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Merten-Singleton syndrome" EXACT [GARD:0000122]
synonym: "SGMRT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182250]
synonym: "Singleton Merten syndrome" EXACT [NORD:1718]
synonym: "singleton Merten syndrome" EXACT [GARD:0000122]
synonym: "Singleton-Merten syndrome" EXACT [Orphanet:85191]
synonym: "SM syndrome" RELATED [GARD:0000122]
synonym: "syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition" RELATED [GARD:0000122]
synonym: "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness" RELATED [GARD:0000122]
xref: GARD:122 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:85191", source="Orphanet:85191/attributed", source="Orphanet:85191/ntbt"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537343 {source="MONDO:equivalentTo"}
xref: NORD:1718 {source="MONDO:NORD"}
xref: OMIMPS:182250 {source="MONDO:equivalentTo"}
xref: Orphanet:85191 {source="GARD:0000122", source="MONDO:equivalentTo", source="OMIM:182250"}
xref: SCTID:254114000 {source="MONDO:equivalentTo"}
xref: UMLS:C0432254 {source="MEDGEN:98481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disorder of connective tissue
is_a: MONDO:0957408 {source="Orphanet:85191", source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: disease_has_feature HP:0004349 {source="Orphanet:85191"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:85191", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:182250"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0008430
name: skeletal dysplasia with delayed epiphyseal and carpal bone ossification
synonym: "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" EXACT [OMIM:182255]
xref: MEDGEN:356650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566687 {source="MONDO:equivalentTo"}
xref: OMIM:182255 {source="MONDO:equivalentTo"}
xref: UMLS:C1866939 {source="MEDGEN:356650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008431
name: obsolete slipped femoral capital epiphyses
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7143" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018382

[Term]
id: MONDO:0008432
name: obsolete ketone compounds, ability to smell
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "ketone compounds, ability to smell" EXACT [OMIM:182270]
xref: OMIM:182270 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008433
name: small cell lung carcinoma
def: "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." [Orphanet:70573]
subset: gard_rare {source="GARD:9344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70573"}
subset: orphanet_rare {source="Orphanet:70573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung oat cell carcinoma" EXACT [NCIT:C4917]
synonym: "lung small cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "lung small cell neuroendocrine carcinoma" EXACT [NCIT:C4917]
synonym: "oat cell carcinoma" BROAD [DOID:5411]
synonym: "oat cell carcinoma (morphologic abnormality)" BROAD [DOID:5411]
synonym: "oat cell carcinoma of lung" EXACT [NCIT:C4917]
synonym: "oat cell carcinoma of the lung" EXACT [NCIT:C4917]
synonym: "oat cell lung carcinoma" EXACT [NCIT:C4917]
synonym: "poorly differentiated endocrine neoplasm" BROAD [DOID:5411, NCIT:C3915]
synonym: "SCLC" BROAD ABBREVIATION [DOID:5409, NCIT:C4917, OMIM:182280, Orphanet:70573]
synonym: "SCLC1" RELATED ABBREVIATION [OMIM:182280]
synonym: "small cell cancer of the lung" RELATED [OMIM:182280]
synonym: "small cell cancer of the lung, somatic" EXACT [OMIM:182280, OMIM:genemap2]
synonym: "small cell carcinoma of lung" EXACT [DOID:5409, NCIT:C4917]
synonym: "small cell carcinoma of the lung" EXACT [NCIT:C4917]
synonym: "Small cell lung cancer" EXACT []
synonym: "small cell lung cancer" EXACT [NCIT:C4917]
synonym: "small cell neuroendocrine carcinoma of lung" EXACT [DOID:5409, NCIT:C4917]
synonym: "small cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C4917]
synonym: "small-cell cancer of lung" EXACT [OMIM:182280, OMIM:genemap2]
xref: DOID:5409 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000702"}
xref: DOID:5411 {source="MONDO:equivalentTo"}
xref: EFO:0000702 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9344 {source="MONDO:GARD"}
xref: ICD10CM:C34.9 {source="Orphanet:70573/ntbt", source="Orphanet:70573"}
xref: icd11.foundation:1800431439 {source="Orphanet:70573", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018288 {source="DOID:5411"}
xref: MESH:D055752 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"}
xref: NCIT:C4917 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"}
xref: OMIM:182280 {source="Orphanet:70573", source="MONDO:equivalentTo", source="DOID:5409", source="Orphanet:70573/e", source="EFO:0000702"}
xref: ONCOTREE:SCLC {source="MONDO:equivalentTo"}
xref: Orphanet:70573 {source="MONDO:equivalentTo", source="OMIM:182280"}
xref: SCTID:189555001 {source="DOID:5411"}
xref: SCTID:254632001 {source="MONDO:equivalentTo", source="DOID:5409", source="EFO:0000702"}
xref: SCTID:254633006 {source="DOID:5409", source="EFO:0000702"}
xref: SCTID:74364000 {source="DOID:5411", source="EFO:0000702"}
xref: SCTID:76817009 {source="SCTID:76817009", source="EFO:0000702"}
xref: UMLS:C0149925 {source="MONDO:equivalentTo", source="MEDGEN:57450", source="MONDO:MEDGEN"}
is_a: MONDO:0000402 {source="DOID:5409", source="MONDO:Redundant", source="NCIT:C4917"} ! small cell carcinoma
is_a: MONDO:0002120 {source="MONDO:0003436/inferred", source="MONDO:Redundant", source="NCIT:C3915"} ! neuroendocrine carcinoma
is_a: MONDO:0005138 {source="DOID:5409", source="EFO:0000702", source="MONDO:Redundant", source="NCIT:C4917"} ! lung carcinoma
is_a: MONDO:0005454 {source="MONDO:Redundant", source="NCIT:C4917/inferred", source="ONCOTREE:SCLC"} ! lung neuroendocrine neoplasm
intersection_of: MONDO:0000402 ! small cell carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9884 {source="MONDO:mim2gene_medgen"} ! RB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008434
name: Smith-Magenis syndrome
def: "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." [Orphanet:819]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1725"}
subset: ordo_disorder {source="Orphanet:819"}
subset: ordo_malformation_syndrome {source="Orphanet:819"}
subset: orphanet_rare {source="Orphanet:819"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17p11.2 microdeletion syndrome" EXACT [DOID:0060768, Orphanet:819]
synonym: "chromosome 17P11.2 deletion syndrome" EXACT [OMIM:182290]
synonym: "chromosome 17p11.2 deletion syndrome" EXACT [DOID:0060768]
synonym: "Smith Magenis Syndrome" EXACT [NORD:1725]
synonym: "Smith-Magenis chromosome region" RELATED [OMIM:182290]
synonym: "SMITH-Magenis syndrome" EXACT [OMIM:182290]
synonym: "Smith-Magenis syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:182290]
synonym: "Smith-Magenis syndrome chromosome region" RELATED [OMIM:182290]
synonym: "Smith-Magenis syndrome, Isolated cases" EXACT [OMIM:182290, OMIM:genemap2]
synonym: "SMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182290]
xref: DECIPHER:8 {source="MONDO:equivalentTo"}
xref: DOID:0060768 {source="MONDO:equivalentTo"}
xref: GARD:8197 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:819/attributed", source="Orphanet:819/ntbt", source="DOID:0060768", source="Orphanet:819"}
xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:162881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058496 {source="Orphanet:819/e", source="MONDO:equivalentTo", source="Orphanet:819"}
xref: NANDO:1200687 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200954 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75469 {source="MONDO:equivalentTo"}
xref: NORD:1725 {source="MONDO:NORD"}
xref: OMIM:182290 {source="Orphanet:819/e", source="MONDO:equivalentTo", source="DOID:0060768", source="Orphanet:819"}
xref: Orphanet:819 {source="OMIM:182290", source="MONDO:equivalentTo", source="DOID:0060768"}
xref: SCTID:401315004 {source="MONDO:equivalentTo"}
xref: UMLS:C0795864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162881"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:819", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0000761 {source="DOID:0060768"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75469"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:819"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: excluded_subClassOf MONDO:0022754 {source="Orphanet:819", source="https://orcid.org/0000-0001-5208-3432"} ! chromosome 17p deletion
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9834 {source="MONDO:mim2gene_medgen"} ! RAI1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5659" xsd:anyURI

[Term]
id: MONDO:0008435
name: Somatomedin, embryonic
synonym: "Somatomedin, embryonic" EXACT [OMIM:182400]
xref: MEDGEN:401103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:182400 {source="MONDO:equivalentTo"}
xref: UMLS:C1866879 {source="MEDGEN:401103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008436
name: Sneddon syndrome
def: "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." [Orphanet:820]
subset: gard_rare {source="GARD:7664", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1726", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:820"}
subset: orphanet_rare {source="Orphanet:820"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebro-vascular lesions and livedo reticularis" RELATED [GARD:0007664]
synonym: "Ehrmann-Sneddon syndrome" EXACT [Orphanet:820]
synonym: "idiopathic livedo reticularis with systemic involvement" EXACT [DOID:13096]
synonym: "livedo racemosa and cerebrovascular accidents" RELATED [GARD:0007664]
synonym: "livedo racemosa-cerebrovascular accident syndrome" EXACT [Orphanet:820]
synonym: "livedo reticularis and cerebrovascular accidents" RELATED [OMIM:182410]
synonym: "livedo reticularis-cerebrovascular accident syndrome" EXACT [Orphanet:820]
synonym: "Sneddon syndrome" EXACT [OMIM:182410]
synonym: "Sneddon's syndrome" RELATED [GARD:0007664]
xref: DOID:13096 {source="EFO:1001186", source="MONDO:equivalentTo"}
xref: EFO:1001186 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7664 {source="MONDO:GARD"}
xref: ICD10CM:I77.8 {source="Orphanet:820/attributed", source="Orphanet:820/ntbt", source="Orphanet:820"}
xref: icd11.foundation:1474816492 {source="Orphanet:820", source="MONDO:equivalentTo"}
xref: MedDRA:10053841 {source="Orphanet:820", source="Orphanet:820/e"}
xref: MEDGEN:76449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018860 {source="EFO:1001186", source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e"}
xref: NORD:1726 {source="MONDO:NORD"}
xref: OMIM:182410 {source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e"}
xref: Orphanet:820 {source="MONDO:equivalentTo", source="OMIM:182410"}
xref: SCTID:238776001 {source="MONDO:equivalentTo", source="DOID:13096"}
xref: UMLS:C0282492 {source="MEDGEN:76449", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="DOID:13096"} ! arterial disorder
is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:820", source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder
is_a: MONDO:0019293 {source="MESH:D018860"} ! skin vascular disease
is_a: MONDO:0100317 {source="https://clinicalgenome.org/affiliation/40080/"} ! deficiency of adenosine deaminase 2
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517", source="MONDO:0019110"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1839 {source="MONDO:mim2gene_medgen"} ! ADA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6166" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome" xsd:anyURI {source="GARD:0007664"}

[Term]
id: MONDO:0008437
name: hereditary spastic paraplegia 3A
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:5041", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100984"}
subset: orphanet_rare {source="Orphanet:100984"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATL1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [DOID:0110791]
synonym: "autosomal dominant spastic paraplegia 3" EXACT [DOID:0110791]
synonym: "autosomal dominant spastic paraplegia type 3" EXACT [DOID:0110791]
synonym: "familial spastic paraplegia, autosomal dominant, 1" RELATED [OMIM:182600]
synonym: "FSP1" EXACT ABBREVIATION [DOID:0110791]
synonym: "hereditary spastic paraplegia caused by mutation in ATL1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 3A" EXACT [DOID:0110791, MONDORULE:4]
synonym: "spastic paraplegia 3" RELATED [GARD:0005041]
synonym: "spastic paraplegia 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182600]
synonym: "spastic Paraplegia 3A" EXACT [NCIT:C142893]
synonym: "spastic paraplegia 3a, autosomal dominant" EXACT [OMIM:182600, OMIM:genemap2]
synonym: "Spg3" RELATED [OMIM:182600]
synonym: "SPG3A" EXACT ABBREVIATION [DOID:0110791, MONDO:Lexical, OMIM:182600]
synonym: "Strumpell disease" RELATED [OMIM:182600]
synonym: "strumpell disease" EXACT [DOID:0110791]
synonym: "Strümpell disease" EXACT [Orphanet:100984]
xref: DOID:0110791 {source="MONDO:equivalentTo"}
xref: GARD:5041 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:100984", source="DOID:0110791", source="Orphanet:100984/attributed", source="Orphanet:100984/ntbt"}
xref: MEDGEN:419393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536864 {source="MONDO:equivalentTo", source="Orphanet:100984", source="Orphanet:100984/e"}
xref: NCIT:C142893 {source="MONDO:equivalentTo"}
xref: OMIM:182600 {source="MONDO:equivalentTo", source="Orphanet:100984", source="DOID:0110791", source="Orphanet:100984/e"}
xref: Orphanet:100984 {source="OMIM:182600", source="MONDO:equivalentTo", source="DOID:0110791"}
xref: UMLS:C2931355 {source="MONDO:equivalentTo", source="MEDGEN:419393", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110791", source="MESH:C536864", source="MONDO:Redundant", source="NCIT:C142893", source="OMIM:182600", source="Orphanet:100984/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11231 ! ATL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11231 {source="MONDO:mim2gene_medgen"} ! ATL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008438
name: hereditary spastic paraplegia 4
def: "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset." [Orphanet:100985]
subset: gard_rare {source="GARD:4925", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100985"}
subset: orphanet_rare {source="Orphanet:100985"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 4" EXACT [DOID:0110792]
synonym: "autosomal dominant spastic paraplegia type 4" EXACT [DOID:0110792]
synonym: "familial spastic paraplegia autosomal dominant 2" RELATED [GARD:0004925]
synonym: "familial spastic paraplegia, autosomal dominant, 2" RELATED [OMIM:182601]
synonym: "FSP2" RELATED ABBREVIATION [GARD:0004925]
synonym: "hereditary spastic paraplegia 4" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia caused by mutation in SPAST" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 4" EXACT [DOID:0110792, MONDORULE:1]
synonym: "SPAST hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 4" RELATED [GARD:0004925]
synonym: "spastic paraplegia 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182601]
synonym: "SPG4" EXACT ABBREVIATION [DOID:0110792, MONDO:Lexical, OMIM:182601, Orphanet:100985]
xref: DOID:0110792 {source="MONDO:equivalentTo"}
xref: GARD:4925 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:100985", source="DOID:0110792", source="Orphanet:100985/attributed", source="Orphanet:100985/ntbt"}
xref: MEDGEN:401097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536865 {source="MONDO:equivalentTo", source="Orphanet:100985", source="Orphanet:100985/e"}
xref: NCIT:C129981 {source="MONDO:equivalentTo"}
xref: OMIM:182601 {source="MONDO:equivalentTo", source="Orphanet:100985", source="DOID:0110792", source="Orphanet:100985/e"}
xref: Orphanet:100985 {source="OMIM:182601", source="MONDO:equivalentTo", source="DOID:0110792"}
xref: SCTID:723820001 {source="MONDO:equivalentTo"}
xref: UMLS:C1866855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401097"}
is_a: MONDO:0019064 {source="DOID:0110792", source="MESH:C536865", source="MONDO:Redundant", source="NCIT:C129981", source="OMIM:182601", source="Orphanet:100985/inferred"} ! hereditary spastic paraplegia
is_a: MONDO:0100523 {source="https://clinicalgenome.org/affiliation/40006/"} ! SPAST-related motor disorder
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11233 ! SPAST
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11233 {source="MONDO:mim2gene_medgen"} ! SPAST
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6279" xsd:anyURI

[Term]
id: MONDO:0008439
name: spastic paraplegia-epilepsy-intellectual disability syndrome
comment: Editor note: TODO fix GARD spelling
subset: gard_rare {source="GARD:4915", source="MONDO:GARD"}
subset: rare
synonym: "spastic paraplegia epilepsy intellectual disability" RELATED [GARD:0004915]
synonym: "spastic paraplegia epilepsy mental retardation" RELATED DEPRECATED [GARD:0004915]
synonym: "spastic paraplegia, epilepsy, and intellectual disability" RELATED [MONDO:Lexical, OMIM:182610]
synonym: "spastic paraplegia, epilepsy, and mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:182610]
synonym: "SPEMR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182610, Orphanet:2816]
synonym: "spemr" RELATED [GARD:0004915]
xref: GARD:4915 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:2816/attributed", source="Orphanet:2816/ntbt", source="Orphanet:2816"}
xref: MEDGEN:356631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536869 {source="MONDO:equivalentTo"}
xref: OMIM:182610 {source="Orphanet:2816/e", source="MONDO:equivalentTo", source="Orphanet:2816"}
xref: Orphanet:2816 {source="OMIM:182610", source="MONDO:equivalentObsolete"}
xref: UMLS:C1866854 {source="MEDGEN:356631", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015087 {source="Orphanet:2816"} ! autosomal dominant complex spastic paraplegia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2816", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008440
name: spastic paraplegia-nephritis-deafness syndrome
def: "This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy." [Orphanet:2820]
subset: gard_rare {source="GARD:2342", source="MONDO:GARD"}
subset: ordo_clinical_syndrome {source="Orphanet:2820"}
subset: ordo_disorder {source="Orphanet:2820"}
subset: orphanet_rare {source="Orphanet:2820"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fitzsimmons Walson Mellor syndrome" RELATED [GARD:0002342]
synonym: "Fitzsimmons-Walson-Mellor syndrome" EXACT [Orphanet:2820]
synonym: "spastic paraplegia - nephritis - deafness" RELATED [GARD:0002342]
synonym: "spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy" RELATED [GARD:0002342]
synonym: "spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy" RELATED [OMIM:182690]
synonym: "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" RELATED DEPRECATED [OMIM:182690]
xref: GARD:2342 {source="MONDO:GARD"}
xref: MEDGEN:355816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537937 {source="MONDO:equivalentTo"}
xref: OMIM:182690 {source="GARD:0002342", source="MONDO:equivalentTo", source="Orphanet:2820", source="Orphanet:2820/e"}
xref: Orphanet:2820 {source="GARD:0002342", source="MONDO:equivalentTo", source="OMIM:182690"}
xref: UMLS:C1866853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355816"}
is_a: MONDO:0015087 {source="Orphanet:2820"} ! autosomal dominant complex spastic paraplegia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome" xsd:anyURI {source="GARD:0002342"}

[Term]
id: MONDO:0008441
name: spastic paraplegia with associated extrapyramidal signs
synonym: "spastic paraplegia with associated extrapyramidal signs" EXACT [OMIM:182800]
xref: MEDGEN:355815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566681 {source="MONDO:equivalentTo"}
xref: OMIM:182800 {source="MONDO:equivalentTo"}
xref: UMLS:C1866852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355815"}
is_a: MONDO:0003847 {source="MESH:C566681/inferred"} ! hereditary disease

[Term]
id: MONDO:0008442
name: spastic paraplegia-neuropathy-poikiloderma syndrome
def: "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992." [Orphanet:2821]
subset: gard_rare {source="GARD:4921", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2821"}
subset: orphanet_rare {source="Orphanet:2821"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Antinolo-Nieto-Borrego syndrome" EXACT [Orphanet:2821]
synonym: "familial spastic paraplegia with neuropathy and poikiloderma" RELATED [GARD:0004921]
synonym: "spastic paraplegia neuropathy poikiloderma" RELATED [GARD:0004921]
synonym: "spastic paraplegia with neuropathy and poikiloderma" RELATED [OMIM:182815]
xref: GARD:4921 {source="MONDO:GARD"}
xref: MEDGEN:355814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536870 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"}
xref: OMIM:182815 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"}
xref: Orphanet:2821 {source="MONDO:equivalentTo", source="OMIM:182815"}
xref: UMLS:C1866851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355814"}
is_a: MONDO:0015087 {source="Orphanet:2821"} ! autosomal dominant complex spastic paraplegia

[Term]
id: MONDO:0008443
name: spastic paraplegia-precocious puberty syndrome
def: "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression." [Orphanet:2826]
subset: gard_rare {source="GARD:4918", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2826"}
subset: orphanet_rare {source="Orphanet:2826"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial spastic paraplegia, intellectual disability, and precocious puberty" RELATED [GARD:0004918]
synonym: "familial spastic paraplegia, mental retardation, and precocious puberty" RELATED DEPRECATED [GARD:0004918]
synonym: "precocious puberty with spastic paraplegia" RELATED [OMIM:182820]
synonym: "spastic paraplegia with precocious puberty" RELATED [OMIM:182820]
xref: GARD:4918 {source="MONDO:GARD"}
xref: MEDGEN:401096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536874 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"}
xref: OMIM:182820 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"}
xref: Orphanet:2826 {source="OMIM:182820", source="MONDO:equivalentTo"}
xref: UMLS:C1866850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401096"}
is_a: MONDO:0015087 {source="Orphanet:2826"} ! autosomal dominant complex spastic paraplegia
relationship: disease_has_feature MONDO:0000088 ! precocious puberty

[Term]
id: MONDO:0008444
name: spastic paraplegia, optic atrophy, and dementia
synonym: "spastic paraplegia, optic atrophy, and dementia" EXACT [OMIM:182830]
xref: MEDGEN:356630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566679 {source="MONDO:equivalentTo"}
xref: OMIM:182830 {source="MONDO:equivalentTo"}
xref: UMLS:C1866849 {source="MEDGEN:356630", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566679/inferred"} ! hereditary disease

[Term]
id: MONDO:0008445
name: delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
def: "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." [Orphanet:3038]
subset: gard_rare {source="GARD:3449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3038"}
subset: ordo_malformation_syndrome {source="Orphanet:3038"}
subset: orphanet_rare {source="Orphanet:3038"}
subset: rare
synonym: "delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases" RELATED [GARD:0003449]
synonym: "Mehes syndrome" EXACT [Orphanet:3038]
synonym: "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" RELATED [OMIM:182875]
xref: GARD:3449 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3038/attributed", source="Orphanet:3038/ntbt", source="Orphanet:3038"}
xref: MEDGEN:355803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:182875 {source="Orphanet:3038", source="MONDO:equivalentTo", source="Orphanet:3038/e"}
xref: Orphanet:3038 {source="OMIM:182875", source="MONDO:equivalentTo"}
xref: SCTID:716199000 {source="MONDO:equivalentTo"}
xref: UMLS:C1866802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355803"}
is_a: MONDO:0015159 {source="Orphanet:3038"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3038", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008446
name: sperm protamine P4
synonym: "PRM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182882]
synonym: "sperm protamine P4" EXACT [MONDO:Lexical, OMIM:182882]
xref: MEDGEN:355802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:182882 {source="MONDO:equivalentTo"}
xref: UMLS:C1866801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355802"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008447
name: hereditary spherocytosis type 1
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ANK1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spherocytosis 1" EXACT [DOID:0110916]
synonym: "hereditary spherocytosis caused by mutation in ANK1" EXACT [MONDO:design_pattern]
synonym: "HS1" EXACT ABBREVIATION [DOID:0110916]
synonym: "Sph" RELATED [OMIM:182900]
synonym: "SPH1" EXACT ABBREVIATION [DOID:0110916, MONDO:Lexical, OMIM:182900]
synonym: "spherocytosis, hereditary, 1" RELATED [OMIM:182900]
synonym: "spherocytosis, type 1" RELATED [MONDO:Lexical, OMIM:182900]
xref: DOID:0110916 {source="MONDO:equivalentTo"}
xref: MEDGEN:382302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:182900 {source="MONDO:equivalentTo", source="DOID:0110916"}
xref: Orphanet:822 {source="OMIM:182900"}
xref: UMLS:C2674218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382302"}
is_a: MONDO:0019350 {source="DOID:0110916", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
intersection_of: MONDO:0019350 ! hereditary spherocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/492 ! ANK1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/492 {source="MONDO:mim2gene_medgen"} ! ANK1

[Term]
id: MONDO:0008448
name: obsolete spheroid body myopathy
xref: GARD:8711 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6203" xsd:string
is_obsolete: true
replaced_by: MONDO:0012215

[Term]
id: MONDO:0008449
name: spina bifida
def: "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." [NCIT:C101214]
subset: otar {source="MONDO:OTAR"}
synonym: "neural tube defects, susceptibility to" RELATED [MONDO:Lexical, OMIM:182940]
synonym: "NTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182940]
synonym: "rachischisis" EXACT [NCIT:C101214]
synonym: "spina bifida" EXACT [MONDO:ambiguous, OMIM:182940]
synonym: "spina bifida (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "spinal meningocele" EXACT [NCIT:C101214]
synonym: "spinal myelocele" EXACT [NCIT:C101214]
synonym: "spinal myelomeningocele" EXACT [NCIT:C101214]
xref: DOID:0080016 {source="MONDO:equivalentTo", source="EFO:0003105"}
xref: EFO:0003105 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002414 {source="MONDO:otherHierarchy", source="EFO:0003105"}
xref: ICD9:741 {source="EFO:0003105"}
xref: MEDGEN:38283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016135 {source="MONDO:equivalentTo"}
xref: NCIT:C101214 {source="MONDO:equivalentTo", source="EFO:0003105"}
xref: Orphanet:268357 {source="OMIM:182940"}
xref: Orphanet:823 {source="OMIM:182940"}
xref: SCTID:67531005 {source="MONDO:equivalentTo", source="EFO:0003105"}
xref: UMLS:C0080178 {source="MEDGEN:38283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="NCIT:C101214"} ! congenital nervous system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature MONDO:0001147 ! meningocele
relationship: disease_has_location UBERON:0002240 {source="EFO:0000784"} ! spinal cord
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "spina bifida (disease)" xsd:string

[Term]
id: MONDO:0008450
name: spinal arachnoiditis
def: "A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor." [NCIT:C50749]
subset: gard_rare {source="GARD:15113", source="MONDO:GARD"}
subset: rare
synonym: "arachnoiditis, spinal" EXACT [NCIT:C50749]
synonym: "spinal arachnoiditis" EXACT [OMIM:182950]
xref: GARD:15113 {source="MONDO:GARD"}
xref: MEDGEN:318191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531624 {source="MONDO:equivalentTo"}
xref: NCIT:C50749 {source="MONDO:equivalentTo"}
xref: OMIM:182950 {source="MONDO:equivalentTo"}
xref: Orphanet:137817 {source="OMIM:182950"}
xref: SCTID:426055002 {source="MONDO:equivalentTo"}
xref: UMLS:C1710146 {source="MEDGEN:318191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015304 {source="MESH:C531624", source="NCIT:C50749", source="Orphanet:137817/btnt"} ! arachnoiditis

[Term]
id: MONDO:0008451
name: neuronopathy, distal hereditary motor, autosomal dominant 1
def: "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." [NCIT:C132826]
subset: gard_rare {source="GARD:16953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139518"}
subset: orphanet_rare {source="Orphanet:139518"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [Orphanet:139518]
synonym: "Charcot-Marie-Tooth disease, spinal, 1" RELATED [OMIM:182960]
synonym: "Charcot-Marie-Tooth disease, spinal, I" EXACT [NCIT:C132826]
synonym: "dHMN1" EXACT [Orphanet:139518]
synonym: "distal hereditary motor neuronopathy type I" EXACT [NCIT:C132826]
synonym: "HMN 1" RELATED [OMIM:182960]
synonym: "HMN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182960]
synonym: "neuronopathy, distal hereditary motor, type 1" EXACT [OMIM:182960]
synonym: "neuronopathy, distal hereditary motor, type I" RELATED [MONDO:Lexical, OMIM:182960]
synonym: "neuropathy, distal hereditary motor, type 1" RELATED [OMIM:182960]
synonym: "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1" RELATED [OMIM:182960]
xref: DOID:0111200 {source="MONDO:equivalentTo"}
xref: GARD:16953 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:139518", source="Orphanet:139518/attributed", source="Orphanet:139518/ntbt"}
xref: MEDGEN:356618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566675 {source="MONDO:equivalentTo"}
xref: NCIT:C132826 {source="MONDO:equivalentTo"}
xref: OMIM:182960 {source="MONDO:equivalentTo", source="Orphanet:139518", source="Orphanet:139518/e"}
xref: Orphanet:139518 {source="MONDO:equivalentTo", source="OMIM:182960"}
xref: UMLS:C1866784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356618"}
is_a: MONDO:0015362 {source="Orphanet:139518"} ! neuronopathy, distal hereditary motor, autosomal dominant
is_a: MONDO:0015626 {source="NCIT:C132826"} ! Charcot-Marie-Tooth disease
relationship: excluded_subClassOf MONDO:0000075 {source="DC-OMIM:182960", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuronopathy, distal hereditary motor

[Term]
id: MONDO:0008452
name: spinal muscular atrophy, facioscapulohumeral type
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fshsma" RELATED [OMIM:182970]
synonym: "spinal muscular atrophy, facioscapulohumeral type" EXACT [OMIM:182970]
xref: MEDGEN:357136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566674 {source="MONDO:equivalentTo"}
xref: OMIM:182970 {source="MONDO:equivalentTo"}
xref: UMLS:C1866783 {source="MEDGEN:357136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DC-OMIM:182970", source="MESH:C566674"} ! spinal muscular atrophy

[Term]
id: MONDO:0008453
name: adult-onset proximal spinal muscular atrophy, autosomal dominant
subset: gard_rare {source="GARD:17102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209335"}
subset: orphanet_rare {source="Orphanet:209335"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant adult-onset proximal SMA" EXACT [Orphanet:209335]
synonym: "autosomal dominant adult-onset proximal spinal muscular atrophy" RELATED [Orphanet:209335]
synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT [Orphanet:209335]
synonym: "Finkel disease" EXACT [Orphanet:209335]
synonym: "Finkel late-adult type Sma" RELATED [OMIM:182980]
synonym: "SMAFK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182980]
synonym: "spinal muscular atrophy, late-onset, FINKEL type" RELATED [MONDO:Lexical, OMIM:182980]
synonym: "spinal muscular atrophy, proximal, adult, autosomal dominant" RELATED [OMIM:182980]
xref: DOID:0111194 {source="MONDO:equivalentTo"}
xref: GARD:17102 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:209335/attributed", source="Orphanet:209335/ntbt", source="Orphanet:209335"}
xref: MEDGEN:340120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:182980 {source="Orphanet:209335/e", source="MONDO:equivalentTo", source="Orphanet:209335"}
xref: Orphanet:209335 {source="MONDO:equivalentTo", source="OMIM:182980"}
xref: UMLS:C1854058 {source="MEDGEN:340120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DC-OMIM:182980"} ! spinal muscular atrophy
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12649 {source="MONDO:mim2gene_medgen"} ! VAPB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008454
name: spinal intradural arachnoid cysts
def: "Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery." [https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts]
subset: gard_rare {source="GARD:9701", source="MONDO:GARD"}
subset: rare
synonym: "arachnoid cysts, spinal intradural" RELATED [GARD:0009701]
synonym: "spinal intradural arachnoid cysts" EXACT [OMIM:182990]
xref: GARD:9701 {source="MONDO:GARD"}
xref: MEDGEN:83372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536878 {source="MONDO:equivalentTo"}
xref: OMIM:182990 {source="MONDO:equivalentTo"}
xref: Orphanet:2356 {source="OMIM:182990"}
xref: UMLS:C0344485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83372"}
is_a: MONDO:0008813 {source="MESH:C536878", source="Orphanet:2356/btnt"} ! arachnoid cyst
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts" xsd:anyURI {source="GARD:0009701"}

[Term]
id: MONDO:0008455
name: spinal muscular atrophy, segmental
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "spinal muscular atrophy, segmental" EXACT [OMIM:183020]
xref: MEDGEN:355801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566670 {source="MONDO:equivalentTo"}
xref: OMIM:183020 {source="MONDO:equivalentTo"}
xref: UMLS:C1866774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355801"}
is_a: MONDO:0001516 {source="DC-OMIM:183020", source="MESH:C566670"} ! spinal muscular atrophy

[Term]
id: MONDO:0008456
name: spinocerebellar ataxia with rigidity and peripheral neuropathy
synonym: "spinocerebellar ataxia with rigidity and peripheral neuropathy" EXACT [OMIM:183050]
xref: MEDGEN:401079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566669 {source="MONDO:equivalentTo"}
xref: OMIM:183050 {source="MONDO:equivalentTo"}
xref: UMLS:C1866770 {source="MEDGEN:401079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566669/inferred"} ! hereditary disease

[Term]
id: MONDO:0008457
name: spinocerebellar ataxia type 6
def: "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." [Orphanet:98758]
subset: gard_rare {source="GARD:10351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98758"}
subset: orphanet_rare {source="Orphanet:98758"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A" EXACT [MONDO:design_pattern]
synonym: "CACNA1A autosomal dominant cerebellar ataxia type III" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183086, Orphanet:98758]
synonym: "spinocerebellar ataxia 6" RELATED [GARD:0010351, MONDO:Lexical, OMIM:183086]
synonym: "spinocerebellar ataxia type 6" EXACT [MONDORULE:1, OMIM:183086]
xref: DOID:0050956 {source="MONDO:equivalentTo"}
xref: GARD:10351 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98758", source="Orphanet:98758/attributed", source="Orphanet:98758/ntbt"}
xref: MEDGEN:148458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200042 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C142838 {source="MONDO:equivalentTo"}
xref: OMIM:183086 {source="MONDO:equivalentTo", source="Orphanet:98758", source="DOID:0050956", source="Orphanet:98758/e"}
xref: Orphanet:98758 {source="MONDO:equivalentTo", source="OMIM:183086"}
xref: SCTID:715752006 {source="MONDO:equivalentTo"}
xref: UMLS:C0752124 {source="MEDGEN:148458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019793 {source="MONDO:Redundant", source="Orphanet:98758"} ! autosomal dominant cerebellar ataxia type III
is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder
intersection_of: MONDO:0019793 ! autosomal dominant cerebellar ataxia type III
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 {source="MONDO:mim2gene_medgen"} ! CACNA1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6" xsd:anyURI {source="GARD:0010351"}

[Term]
id: MONDO:0008458
name: spinocerebellar ataxia type 2
def: "A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." [https://orcid.org/0000-0001-5208-3432, Orphanet:98756]
subset: gard_rare {source="GARD:4072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98756"}
subset: orphanet_rare {source="Orphanet:98756"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "ALS13" RELATED DEPRECATED [DOID:0060204, OMIM:183090]
synonym: "amyotrophic lateral sclerosis 13" RELATED DEPRECATED [DOID:0060204, OMIM:183090]
synonym: "amyotrophic lateral sclerosis type 13" RELATED [DOID:0060204]
synonym: "amyotrophic lateral sclerosis, susceptibility to, 13" RELATED [OMIM:183090]
synonym: "ATXN2 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2" EXACT [MONDO:design_pattern]
synonym: "cerebellar Degeneration with slow eye movements" RELATED [OMIM:183090]
synonym: "olivopontocerebellar atrophy 2" RELATED [OMIM:183090]
synonym: "olivopontocerebellar atrophy Holguin type" RELATED [GARD:0004072]
synonym: "olivopontocerebellar atrophy, Holguin type" RELATED [OMIM:183090]
synonym: "OPCA2" EXACT ABBREVIATION [NCIT:C148315]
synonym: "SCA 2" RELATED [GARD:0004072]
synonym: "SCA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183090, Orphanet:98756]
synonym: "spinocerebellar ataxia 2" RELATED [MONDO:Lexical, OMIM:183090]
synonym: "spinocerebellar ataxia Cuban type" RELATED [GARD:0004072]
synonym: "spinocerebellar ataxia type 2" EXACT [MONDORULE:1, OMIM:183090]
synonym: "spinocerebellar ataxia with slow eye movements" RELATED [GARD:0004072]
synonym: "spinocerebellar ataxia, Cuban type" RELATED [OMIM:183090]
synonym: "spinocerebellar atrophy 2" RELATED [OMIM:183090]
synonym: "spinocerebellar Degeneration with slow eye movements" RELATED [OMIM:183090]
synonym: "Wadia swami syndrome" RELATED [GARD:0004072]
synonym: "Wadia-swami syndrome" RELATED [OMIM:183090]
xref: DOID:0050955 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0060204 {source="MONDO:equivalentTo"}
xref: GARD:4072 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98756/attributed", source="Orphanet:98756/ntbt", source="Orphanet:98756"}
xref: MEDGEN:155704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200046 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C148315 {source="MONDO:equivalentTo"}
xref: OMIM:183090 {source="Orphanet:98756", source="MONDO:equivalentTo", source="DOID:0050955", source="Orphanet:98756/e"}
xref: Orphanet:98756 {source="OMIM:183090", source="MONDO:equivalentTo"}
xref: SCTID:715751004 {source="MONDO:equivalentTo"}
xref: UMLS:C0752121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155704"}
is_a: MONDO:0005144 {source="DC-OMIM:183090", source="DOID:0060204", source="MONDO:Redundant", source="OMIM:183090"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0015548 {source="Orphanet:98756"} ! Huntington disease-like syndrome
is_a: MONDO:0019792 {source="MONDO:Redundant", source="Orphanet:98756"} ! autosomal dominant cerebellar ataxia type I
intersection_of: MONDO:0019792 ! autosomal dominant cerebellar ataxia type I
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10555 ! ATXN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10555 {source="MONDO:mim2gene_medgen"} ! ATXN2

[Term]
id: MONDO:0008459
name: spinocerebellar atrophy with pupillary paralysis
synonym: "spinocerebellar atrophy with pupillary paralysis" EXACT [OMIM:183100]
xref: MEDGEN:356608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566668 {source="MONDO:equivalentTo"}
xref: OMIM:183100 {source="MONDO:equivalentTo"}
xref: UMLS:C1866746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356608"}
is_a: MONDO:0003847 {source="MESH:C566668/inferred"} ! hereditary disease

[Term]
id: MONDO:0008460
name: splenogonadal fusion-limb defects-micrognathia syndrome
def: "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." [Orphanet:2063]
subset: gard_rare {source="GARD:4963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2063"}
subset: ordo_malformation_syndrome {source="Orphanet:2063"}
subset: orphanet_rare {source="Orphanet:2063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SGFLD syndrome" EXACT [Orphanet:2063]
synonym: "Sgfld syndrome" RELATED [OMIM:183300]
synonym: "splenogonadal fusion limb defect syndrome" RELATED [OMIM:183300]
synonym: "splenogonadal fusion limb defects micrognatia" RELATED [GARD:0004963]
synonym: "splenogonadal fusion limb defects syndrome" RELATED [GARD:0004963]
synonym: "splenogonadal fusion with limb defects and micrognathia" RELATED [OMIM:183300]
xref: GARD:4963 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2063/attributed", source="Orphanet:2063/ntbt", source="Orphanet:2063"}
xref: MEDGEN:401073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537318 {source="MONDO:equivalentTo"}
xref: OMIM:183300 {source="Orphanet:2063/e", source="MONDO:equivalentTo", source="Orphanet:2063"}
xref: Orphanet:2063 {source="MONDO:equivalentTo", source="OMIM:183300"}
xref: SCTID:726724005 {source="MONDO:equivalentTo"}
xref: UMLS:C1866745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401073"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008461
name: splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells
synonym: "splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells" EXACT [OMIM:183350]
xref: MEDGEN:357126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566666 {source="MONDO:equivalentTo"}
xref: OMIM:183350 {source="MONDO:equivalentTo"}
xref: UMLS:C1866744 {source="MEDGEN:357126", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008462
name: split lower lip
synonym: "split lower lip" EXACT [OMIM:183400]
synonym: "split Lower type lip" EXACT [MONDORULE:4, OMIM:183400]
xref: MEDGEN:356607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:183400 {source="MONDO:equivalentTo"}
xref: UMLS:C1866743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356607"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008463
name: split-hand and split-foot with hypodontia
synonym: "split-hand and split-foot with hypodontia" EXACT [OMIM:183500]
xref: MEDGEN:357125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566665 {source="MONDO:equivalentTo"}
xref: OMIM:183500 {source="MONDO:equivalentTo"}
xref: UMLS:C1866742 {source="MEDGEN:357125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008464
name: split hand-foot malformation 1
def: "Split-hand/foot malformation mapped to chromosome 7q21.3" [NCIT:C75045]
subset: gard_rare {source="GARD:7685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ectrodactyly" RELATED [OMIM:183600]
synonym: "SHFD1" EXACT ABBREVIATION [DOID:0090021]
synonym: "SHFM1" EXACT ABBREVIATION [DECIPHER:46, DOID:0090021, MONDO:Lexical, OMIM:183600]
synonym: "split hand-foot malformation type 1" EXACT [DOID:0090021, MONDORULE:1]
synonym: "split hand/foot malformation 1" EXACT [DECIPHER:46]
synonym: "split-hand deformity" RELATED [OMIM:183600]
synonym: "split-hand/foot deformity 1" RELATED [OMIM:183600]
synonym: "split-hand/foot malformation 1" RELATED [MONDO:Lexical, OMIM:183600]
synonym: "split-hand/foot malformation 1 with or without deafness" RELATED [OMIM:183600]
synonym: "split-hand/foot malformation type 1" EXACT [MONDORULE:1, OMIM:183600]
xref: DECIPHER:46 {source="MONDO:equivalentTo"}
xref: DOID:0090021 {source="MONDO:equivalentTo"}
xref: GARD:7685 {source="MONDO:GARD"}
xref: ICD10CM:Q71.6 {source="DOID:0090021"}
xref: MEDGEN:419314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75045 {source="MONDO:equivalentTo"}
xref: OMIM:183600 {source="DOID:0090021", source="MONDO:equivalentTo"}
xref: Orphanet:2440 {source="OMIM:183600", source="DOID:0090021"}
xref: UMLS:C2931019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419314"}
is_a: MONDO:0016576 {source="DOID:0090021", source="NCIT:C75045", source="OMIM:183600"} ! split hand-foot malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008465
name: Patterson-Stevenson-Fontaine syndrome
def: "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." [Orphanet:2439]
subset: gard_rare {source="GARD:4260", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2439"}
subset: ordo_malformation_syndrome {source="Orphanet:2439"}
subset: orphanet_rare {source="Orphanet:2439"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Patterson Stevenson Fontaine syndrome" RELATED [GARD:0004260]
synonym: "Patterson-Stevenson syndrome" EXACT [Orphanet:2439]
synonym: "Patterson-Stevenson-Fontaine syndrome" EXACT [OMIM:183700]
synonym: "split foot deformity-mandibulofacial dysostosis syndrome" EXACT [Orphanet:2439]
synonym: "split-foot deformity with ectrodactyly and mandibulofacial dysostosis" RELATED [GARD:0004260]
synonym: "split-foot deformity with mandibulofacial dysostosis" RELATED [OMIM:183700]
xref: GARD:4260 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2439/attributed", source="Orphanet:2439/ntbt", source="Orphanet:2439"}
xref: MEDGEN:1808766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:183700 {source="Orphanet:2439/e", source="MONDO:equivalentTo", source="Orphanet:2439"}
xref: Orphanet:2439 {source="OMIM:183700", source="MONDO:equivalentTo"}
xref: SCTID:724069009 {source="MONDO:equivalentTo"}
xref: UMLS:C5574964 {source="MEDGEN:1808766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018237 {source="Orphanet:2439"} ! acrofacial dysostosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome" xsd:anyURI {source="GARD:0004260"}

[Term]
id: MONDO:0008466
name: Karsch-Neugebauer syndrome
def: "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." [Orphanet:2329]
subset: gard_rare {source="GARD:4967", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2329"}
subset: ordo_malformation_syndrome {source="Orphanet:2329"}
subset: orphanet_rare {source="Orphanet:2329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Karsch-Neugebauer syndrome" EXACT [OMIM:183800]
synonym: "KNS" RELATED ABBREVIATION [GARD:0004967]
synonym: "Nystagmus-split hand syndrome" RELATED [OMIM:183800]
synonym: "split hand nystagmus syndrome" RELATED [GARD:0004967]
synonym: "split hand split foot nystagmus" RELATED [GARD:0004967]
synonym: "split hand/split foot-nystagmus syndrome" EXACT [Orphanet:2329]
synonym: "split-hand with congenital NYSTAGMUS, fundal changes, and cataracts" RELATED [OMIM:183800]
xref: GARD:4967 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2329/attributed", source="Orphanet:2329/ntbt", source="Orphanet:2329"}
xref: MEDGEN:401072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537319 {source="Orphanet:2329/e", source="MONDO:equivalentTo", source="Orphanet:2329"}
xref: OMIM:183800 {source="Orphanet:2329/e", source="MONDO:equivalentTo", source="Orphanet:2329"}
xref: Orphanet:2329 {source="OMIM:183800", source="MONDO:equivalentTo"}
xref: SCTID:722032005 {source="MONDO:equivalentTo"}
xref: UMLS:C1866740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401072"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008467
name: Czeizel-Losonci syndrome
def: "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." [Orphanet:2437]
subset: gard_rare {source="GARD:4969", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2437"}
subset: ordo_malformation_syndrome {source="Orphanet:2437"}
subset: orphanet_rare {source="Orphanet:2437"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "split hand urinary anomalies spina bifida" RELATED [GARD:0004969]
synonym: "split hand with obstructive uropathy, spina bifida and diaphragmatic defects" EXACT [Orphanet:2437]
synonym: "split hand-urinary anomalies-spina bifida syndrome" EXACT [Orphanet:2437]
synonym: "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" RELATED [OMIM:183802]
xref: GARD:4969 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2437", source="Orphanet:2437/attributed", source="Orphanet:2437/ntbt"}
xref: MEDGEN:401071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566662 {source="MONDO:equivalentTo"}
xref: OMIM:183802 {source="MONDO:equivalentTo", source="Orphanet:2437", source="Orphanet:2437/e"}
xref: Orphanet:2437 {source="OMIM:183802", source="MONDO:equivalentTo"}
xref: UMLS:C1866739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401071"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2437"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2437", source="Orphanet:2437/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2437", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015960", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008468
name: spondyloarthropathy, susceptibility to, 2
subset: predisposition
synonym: "SPDA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:183840]
synonym: "spondyloarthropathy, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:183840]
xref: DOID:0080604 {source="MONDO:equivalentTo"}
xref: MEDGEN:355791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:183840 {source="MONDO:equivalentTo"}
xref: Orphanet:825 {source="OMIM:183840"}
xref: UMLS:C1866738 {source="MEDGEN:355791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024512 {source="OMIM:183840"} ! spondyloarthropathy, susceptibility to

[Term]
id: MONDO:0008469
name: spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
def: "A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:168443]
subset: gard_rare {source="GARD:10101", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168443"}
subset: orphanet_rare {source="Orphanet:168443"}
subset: rare
synonym: "spondyloepimetaphyseal dysplasia with hypotrichosis" RELATED [OMIM:183849]
synonym: "Whyte Petersen McAlister syndrome" RELATED [GARD:0010101]
synonym: "Whyte syndrome" RELATED [OMIM:183849]
xref: GARD:10101 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:168443/attributed", source="Orphanet:168443/ntbt", source="Orphanet:168443"}
xref: MEDGEN:357120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535783 {source="Orphanet:168443", source="MONDO:equivalentTo", source="Orphanet:168443/e"}
xref: OMIM:183849 {source="Orphanet:168443", source="MONDO:equivalentTo", source="Orphanet:168443/e"}
xref: Orphanet:168443 {source="MONDO:equivalentTo", source="OMIM:183849"}
xref: UMLS:C1866728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357120"}
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:168443", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0008470
name: spondyloepiphyseal dysplasia with punctate corneal dystrophy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "spondyloepiphyseal dysplasia with punctate corneal dystrophy" EXACT [OMIM:183850]
synonym: "spondyloepiphyseal dysplasia, Byers type" EXACT [Orphanet:163673]
xref: DOID:0112286 {source="MONDO:equivalentTo"}
xref: MEDGEN:357119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566660 {source="MONDO:equivalentTo"}
xref: OMIM:183850 {source="MONDO:equivalentTo"}
xref: Orphanet:163673 {source="MONDO:equivalentObsolete", source="OMIM:183850"}
xref: UMLS:C1866727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357119"}
is_a: MONDO:0003847 {source="MESH:C566660/inferred"} ! hereditary disease
is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0008471
name: spondyloepiphyseal dysplasia congenita
def: "A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." [https://orcid.org/0000-0001-5208-3432, Orphanet:94068]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4987", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1733"}
subset: ordo_disorder {source="Orphanet:94068"}
subset: orphanet_rare {source="Orphanet:94068"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital spondyloepiphyseal dysplasia" RELATED [https://orcid.org/0000-0001-8612-1062, Orphanet:94068]
synonym: "late spondyloepiphyseal dysplasia" EXACT EXCLUDE [DOID:14789, MTH:NOCODE]
synonym: "SED congenita" EXACT [OMIM:183900]
synonym: "SEDC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183900, Orphanet:94068]
synonym: "spondyloepiphyseal dysplasia congenita" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:183900]
synonym: "spondyloepiphyseal dysplasia tarda, X-linked; SEDT" EXACT EXCLUDE [DOID:14789]
synonym: "Spondyloepiphyseal Dysplasia, Congenital" EXACT [NORD:1733]
synonym: "spondyloepiphyseal dysplasia, congenital type" EXACT [OMIM:183900]
synonym: "Spranger-Wiedemann disease" EXACT [Orphanet:94068]
xref: DOID:14789 {source="MONDO:equivalentTo"}
xref: GARD:4987 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:94068", source="Orphanet:94068/attributed", source="Orphanet:94068/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062920 {source="Orphanet:94068", source="Orphanet:94068/e"}
xref: MEDGEN:412530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535788 {source="Orphanet:94068", source="MONDO:equivalentTo", source="Orphanet:94068/e"}
xref: NANDO:2201348 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1733 {source="MONDO:NORD"}
xref: OMIM:183900 {source="DOID:14789", source="Orphanet:94068", source="MONDO:equivalentTo", source="Orphanet:94068/e"}
xref: Orphanet:94068 {source="OMIM:183900", source="MONDO:equivalentTo"}
xref: SCTID:278713008 {source="MONDO:equivalentTo"}
xref: UMLS:C2745959 {source="MEDGEN:412530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="Orphanet:94068"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:94068", source="PMID:31633310"} ! type 2 collagenopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5285" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita" xsd:anyURI {source="GARD:0004987"}

[Term]
id: MONDO:0008472
name: spondyloepiphyseal dysplasia, MacDermot type
def: "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." [Orphanet:163668]
subset: gard_rare {source="GARD:16996", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:163668"}
subset: ordo_malformation_syndrome {source="Orphanet:163668"}
subset: orphanet_rare {source="Orphanet:163668"}
subset: rare
synonym: "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" RELATED [OMIM:184000]
synonym: "spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome" EXACT [Orphanet:163668]
xref: GARD:16996 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:163668/attributed", source="Orphanet:163668/ntbt", source="Orphanet:163668"}
xref: MEDGEN:401067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566659 {source="MONDO:equivalentTo"}
xref: OMIM:184000 {source="Orphanet:163668/e", source="MONDO:equivalentTo", source="Orphanet:163668"}
xref: Orphanet:163668 {source="MONDO:equivalentTo", source="OMIM:184000"}
xref: UMLS:C1866719 {source="MEDGEN:401067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="Orphanet:163668"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0008473
name: spondyloepimetaphyseal dysplasia, Maroteaux type
def: "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." [Orphanet:263482]
subset: gard_rare {source="GARD:994", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263482"}
subset: orphanet_rare {source="Orphanet:263482"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachyolmia Maroteaux type" RELATED [GARD:0000994]
synonym: "pseudo-Morquio syndrome type 2" EXACT [Orphanet:263482]
synonym: "pseudo-Morquio syndrome, type 2" RELATED [OMIM:184095]
synonym: "SED, Maroteaux type" EXACT [OMIM:184095]
synonym: "spondyloepimetaphyseal dysplasia, Maroteaux type" EXACT CLINGEN_LABEL [https://orcid.org/0000-0003-4972-2947, PMID:14755468, PMID:20503319, PMID:31633310]
synonym: "spondyloepiphyseal dysplasia Maroteaux type" EXACT [GARD:0000994]
synonym: "spondyloepiphyseal dysplasia, Maroteaux type" EXACT [OMIM:184095]
xref: DOID:0111553 {source="MONDO:equivalentTo"}
xref: GARD:994 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:263482", source="Orphanet:263482/attributed", source="Orphanet:263482/ntbt"}
xref: MEDGEN:463613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:184095 {source="Orphanet:263482", source="MONDO:equivalentTo", source="Orphanet:263482/e"}
xref: Orphanet:263482 {source="MONDO:equivalentTo", source="OMIM:184095"}
xref: SCTID:719204007 {source="MONDO:equivalentTo"}
xref: UMLS:C3159322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463613"}
is_a: MONDO:0018240 {source="Orphanet:263482", source="PMID:31633310"} ! TRPV4-related bone disorder
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:263482", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2706" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0008474
name: spondyloepiphyseal dysplasia tarda, autosomal dominant
def: "Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies." [https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda]
subset: gard_rare {source="GARD:10624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant spondyloepiphyseal dysplasia tarda" EXACT []
synonym: "spondyloepiphyseal dysplasia tarda, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:184100]
xref: DOID:0112285 {source="MONDO:equivalentTo"}
xref: GARD:10624 {source="MONDO:GARD"}
xref: MEDGEN:355785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566658 {source="MONDO:equivalentTo"}
xref: OMIM:184100 {source="MONDO:equivalentTo"}
xref: Orphanet:93284 {source="OMIM:184100"}
xref: UMLS:C1866717 {source="MONDO:equivalentTo", source="MEDGEN:355785", source="MONDO:MEDGEN"}
is_a: MONDO:0019667 {source="MONDO:Redundant", source="Orphanet:93284/btnt"} ! spondyloepiphyseal dysplasia tarda
intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:184100", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia with congenital joint dislocations
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda" xsd:anyURI {source="GARD:0010624"}

[Term]
id: MONDO:0008475
name: spondylolisthesis
def: "A condition in which there is forward displacement of a vertebral bone over the on below it." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "spondylolisthesis" EXACT [MONDO:ambiguous, OMIM:184200]
synonym: "spondylolisthesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:6682 {source="MONDO:equivalentTo", source="EFO:0007493"}
xref: EFO:0007493 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0003302 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M43.1 {source="DOID:6682"}
xref: ICD10CM:M43.10 {source="DOID:6682"}
xref: MEDGEN:52470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013168 {source="MONDO:equivalentTo", source="EFO:0007493", source="DOID:6682"}
xref: NCIT:C35033 {source="MONDO:equivalentTo", source="DOID:6682"}
xref: OMIM:184200 {source="MONDO:equivalentTo", source="DOID:6682"}
xref: SCTID:157003009 {source="DOID:6682"}
xref: SCTID:268349005 {source="DOID:6682"}
xref: SCTID:274152003 {source="MONDO:equivalentTo", source="DOID:6682"}
xref: UMLS:C0038016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52470"}
is_a: MONDO:0000836 {source="DOID:6682"} ! disease of bone structure
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "spondylolisthesis (disease)" xsd:string

[Term]
id: MONDO:0008476
name: spondyloepimetaphyseal dysplasia, Strudwick type
def: "A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." [https://orcid.org/0000-0001-5208-3432, Orphanet:93346]
subset: gard_rare {source="GARD:134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93346"}
subset: orphanet_rare {source="Orphanet:93346"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dappled metaphysis syndrome" RELATED [OMIM:184250]
synonym: "SEMD, Strudwick type" RELATED [OMIM:184250]
synonym: "Semdc" RELATED [OMIM:184250]
synonym: "SEMDSTWK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184250]
synonym: "SmD" RELATED [GARD:0000134]
synonym: "SMED Strudwick type" RELATED [GARD:0000134]
synonym: "SMED type 1" RELATED [GARD:0000134]
synonym: "Smed, Strudwick type" RELATED [OMIM:184250]
synonym: "Smed, type 1" RELATED [OMIM:184250]
synonym: "spondyloepimetaphyseal dysplasia congenita, Strudwick type" RELATED [Orphanet:93346]
synonym: "spondyloepimetaphyseal dysplasia Strudwick type" RELATED [GARD:0000134]
synonym: "spondyloepimetaphyseal dysplasia, Strudwick type" EXACT [MONDO:Lexical, OMIM:184250]
synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" RELATED [OMIM:184250]
synonym: "spondylometaphyseal dysplasia" RELATED [OMIM:184250]
synonym: "Strudwick syndrome" RELATED [OMIM:184250]
xref: DOID:0080028 {source="MONDO:equivalentTo"}
xref: GARD:134 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93346", source="Orphanet:93346/attributed", source="Orphanet:93346/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:147134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201349 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:184250 {source="MONDO:equivalentTo", source="Orphanet:93346", source="DOID:0080028", source="Orphanet:93346/e"}
xref: Orphanet:93346 {source="MONDO:equivalentTo", source="OMIM:184250"}
xref: SCTID:702350003 {source="MONDO:equivalentTo"}
xref: UMLS:C0700635 {source="MEDGEN:147134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="OMIM:184250"} ! spondylometaphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:93346", source="PMID:31633310"} ! type 2 collagenopathy
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: disease_has_feature HP:0000768 ! Pectus carinatum
relationship: disease_has_feature HP:0000924 ! Abnormality of the skeletal system
relationship: disease_has_feature HP:0000926 ! Platyspondyly
relationship: disease_has_feature HP:0001762 ! Talipes equinovarus
relationship: disease_has_feature HP:0002651 ! Spondyloepimetaphyseal dysplasia
relationship: disease_has_feature HP:0002812 ! Coxa vara
relationship: disease_has_feature HP:0003307 ! Hyperlordosis
relationship: disease_has_feature HP:0004322 ! Short stature
relationship: disease_has_feature MONDO:0005392 ! scoliosis
relationship: excluded_subClassOf MONDO:0016761 {source="DOID:0080028", source="Orphanet:93346", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type" xsd:anyURI {source="GARD:0000134"}

[Term]
id: MONDO:0008477
name: spondylometaphyseal dysplasia, Kozlowski type
def: "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly." [Orphanet:93314]
subset: gard_rare {source="GARD:3047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93314"}
subset: orphanet_rare {source="Orphanet:93314"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dysmorphism arthrogryposis skeletal maturation advanced" RELATED [GARD:0003047]
synonym: "Jequier Kozlowski skeletal dysplasia" RELATED [GARD:0003047]
synonym: "Jequier-Kozlowski syndrome" RELATED [GARD:0003047]
synonym: "skeletal dysplasia Jequier-Kozlowski type" RELATED [GARD:0003047]
synonym: "SmD Kozlowski type" RELATED [GARD:0003047]
synonym: "SmD, Kozlowski type" RELATED [OMIM:184252]
synonym: "SMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184252]
synonym: "spondylometaphyseal dysplasia, Kozlowski type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:184252]
xref: DOID:0111554 {source="MONDO:equivalentTo"}
xref: GARD:3047 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:93314", source="Orphanet:93314/attributed", source="Orphanet:93314/ntbt"}
xref: MEDGEN:82698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535797 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"}
xref: OMIM:184252 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"}
xref: Orphanet:93314 {source="MONDO:equivalentTo", source="OMIM:184252"}
xref: UMLS:C0265280 {source="MEDGEN:82698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="DC-OMIM:184252", source="Orphanet:93314"} ! spondylometaphyseal dysplasia
is_a: MONDO:0018240 {source="Orphanet:93314", source="PMID:31633310"} ! TRPV4-related bone disorder
intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 ! TRPV4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type" xsd:anyURI {source="GARD:0003047"}

[Term]
id: MONDO:0008478
name: spondylometaphyseal dysplasia, Schmidt type
def: "Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." [Orphanet:93316]
subset: gard_rare {source="GARD:504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93316"}
subset: orphanet_rare {source="Orphanet:93316"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Schmid metaphyseal dysostosis" RELATED [GARD:0000504]
synonym: "spondylometaphyseal dysplasia Algerian type" RELATED [GARD:0000504]
synonym: "spondylometaphyseal dysplasia Schmidt type" RELATED [GARD:0000504]
synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [OMIM:184253, Orphanet:93316]
synonym: "spondylometaphyseal dysplasia, Algerian type" EXACT [OMIM:184253, Orphanet:93316]
synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [OMIM:184253]
xref: DOID:0112296 {source="MONDO:equivalentTo"}
xref: GARD:504 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:93316/attributed", source="Orphanet:93316/ntbt", source="Orphanet:93316"}
xref: MEDGEN:356595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535794 {source="MONDO:equivalentTo"}
xref: OMIM:184253 {source="Orphanet:93316/e", source="MONDO:equivalentTo", source="Orphanet:93316"}
xref: Orphanet:93316 {source="MONDO:equivalentTo", source="OMIM:184253"}
xref: SCTID:719304005 {source="MONDO:equivalentTo"}
xref: UMLS:C1866688 {source="MEDGEN:356595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="DC-OMIM:184253", source="Orphanet:93316"} ! spondylometaphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:93316", source="PMID:31633310"} ! type 2 collagenopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008479
name: spondylometaphyseal dysplasia, 'corner fracture' type
def: "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." [Orphanet:93315]
subset: gard_rare {source="GARD:4991", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93315"}
subset: orphanet_rare {source="Orphanet:93315"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SMDCF" RELATED ABBREVIATION [OMIM:184255]
synonym: "spondylometaphyseal dysplasia corner fracture type" RELATED [GARD:0004991]
synonym: "spondylometaphyseal dysplasia Sutcliffe type" RELATED [GARD:0004991]
synonym: "spondylometaphyseal dysplasia, corner fracture type" RELATED [OMIM:184255]
synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT [OMIM:184255, Orphanet:93315]
synonym: "Sutcliffe SmD" RELATED [GARD:0004991]
synonym: "Sutcliffe type of spondylometaphyseal dysplasia" RELATED [GARD:0004991]
xref: DOID:0112297 {source="MONDO:equivalentTo"}
xref: GARD:4991 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:93315", source="Orphanet:93315/attributed", source="Orphanet:93315/ntbt"}
xref: MEDGEN:98146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535793 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"}
xref: OMIM:184255 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"}
xref: Orphanet:93315 {source="MONDO:equivalentTo", source="OMIM:184255"}
xref: SCTID:254078005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98146"}
is_a: MONDO:0016763 {source="DC-OMIM:184255", source="Orphanet:93315", source="PMID:31633310"} ! spondylometaphyseal dysplasia
is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy
intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 ! FN1
relationship: excluded_subClassOf MONDO:0019686 {source="Orphanet:93315", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete type 2 collagen-related bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type" xsd:anyURI {source="GARD:0004991"}

[Term]
id: MONDO:0008480
name: obsolete odontochondrodysplasia
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2940" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0031169

[Term]
id: MONDO:0008481
name: spondylosis, cervical
subset: otar {source="MONDO:OTAR"}
synonym: "spondylosis, cervical" EXACT [OMIM:184300]
xref: EFO:0009610 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:235174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:184300 {source="MONDO:equivalentTo"}
xref: SCTID:387800004 {source="MONDO:equivalentTo"}
xref: UMLS:C1384641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235174"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008482
name: Sprengel deformity
subset: gard_rare {source="GARD:7693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1736"}
subset: ordo_disorder {source="Orphanet:3181"}
subset: ordo_morphological_anomaly {source="Orphanet:3181"}
subset: orphanet_rare {source="Orphanet:3181"}
subset: rare
synonym: "congenital elevation of the scapula" RELATED [GARD:0007693]
synonym: "congenital upward displacement of the scapula" RELATED [GARD:0007693]
synonym: "high scapula" EXACT [OMIM:184400, Orphanet:3181]
synonym: "Sprengel deformity" EXACT [MONDO:ambiguous, OMIM:184400]
synonym: "Sprengel deformity (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Sprengel's deformity" RELATED [GARD:0007693]
synonym: "Sprengel's shoulder" RELATED [GARD:0007693]
xref: GARD:7693 {source="MONDO:GARD"}
xref: HP:0000912 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q74.0 {source="Orphanet:3181", source="Orphanet:3181/ntbt"}
xref: icd11.foundation:2144522441 {source="MONDO:equivalentTo", source="Orphanet:3181"}
xref: MedDRA:10010455 {source="Orphanet:3181", source="Orphanet:3181/e"}
xref: MEDGEN:56291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535802 {source="MONDO:equivalentTo", source="Orphanet:3181", source="Orphanet:3181/e"}
xref: NORD:1736 {source="MONDO:NORD"}
xref: OMIM:184400 {source="MONDO:equivalentTo", source="Orphanet:3181", source="Orphanet:3181/e"}
xref: Orphanet:3181 {source="MONDO:equivalentTo", source="OMIM:184400"}
xref: SCTID:79120002 {source="MONDO:equivalentTo"}
xref: UMLS:C0152438 {source="MEDGEN:56291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015929 {source="Orphanet:3181"} ! thoracic malformation
property_value: IAO:0000589 "Sprengel deformity (disease)" xsd:string

[Term]
id: MONDO:0008483
name: stuttering, familial persistent, 1
synonym: "stammering" RELATED [OMIM:184450]
synonym: "STUT1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:184450]
synonym: "stuttering, familial persistent, 1" EXACT [OMIM:184450]
xref: MEDGEN:483580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:184450 {source="MONDO:equivalentTo"}
xref: UMLS:C3489627 {source="MEDGEN:483580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000723 {source="DC-OMIM:184450", source="OMIM:184450"} ! stutter disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/573 {source="MONDO:mim2gene_medgen"} ! AP4E1

[Term]
id: MONDO:0008484
name: stapes ankylosis with broad thumbs and toes
def: "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." [Orphanet:140917]
subset: gard_rare {source="GARD:12631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140917"}
subset: ordo_malformation_syndrome {source="Orphanet:140917"}
subset: orphanet_rare {source="Orphanet:140917"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly" RELATED [OMIM:184460]
synonym: "stapes ankylosis syndrome without symphalangism" RELATED [OMIM:184460]
synonym: "stapes ankylosis with BROAD thumb and toes" RELATED [OMIM:184460]
synonym: "Teunissen-Cremers syndrome" EXACT [OMIM:184460, Orphanet:140917]
xref: GARD:12631 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:140917/attributed", source="Orphanet:140917/ntbt", source="Orphanet:140917"}
xref: MEDGEN:357104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:184460 {source="Orphanet:140917", source="MONDO:equivalentTo", source="Orphanet:140917/e"}
xref: Orphanet:140917 {source="MONDO:equivalentTo", source="OMIM:184460"}
xref: SCTID:719305006 {source="MONDO:equivalentTo"}
xref: UMLS:C1866656 {source="MEDGEN:357104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:140917/inferred"} ! hereditary disease
is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:string

[Term]
id: MONDO:0008485
name: sebocystomatosis
def: "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." [Orphanet:841]
subset: gard_rare {source="GARD:5003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:841"}
subset: orphanet_rare {source="Orphanet:841"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "multiple sebaceous cysts" RELATED [GARD:0005003]
synonym: "multiplex steatocystoma" RELATED [GARD:0005003]
synonym: "sebaceous cysts, multiple" RELATED [OMIM:184500]
synonym: "STEATOCYSTOMA multiplex" RELATED [OMIM:184500]
synonym: "Steatocystoma multiplex" EXACT [Orphanet:841]
xref: DOID:0111556 {source="MONDO:equivalentTo"}
xref: GARD:5003 {source="MONDO:GARD"}
xref: ICD10CM:L72.2 {source="Orphanet:841", source="Orphanet:841/e", source="Orphanet:841/specific"}
xref: MEDGEN:75476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:184500 {source="Orphanet:841", source="MONDO:equivalentTo", source="Orphanet:841/e"}
xref: Orphanet:841 {source="MONDO:equivalentTo", source="OMIM:184500"}
xref: SCTID:109433009 {source="MONDO:equivalentTo"}
xref: UMLS:C0259771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75476"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0006607 {source="DOID:9098", source="https://orcid.org/0000-0001-5208-3432"} ! sebaceous gland disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6427 {source="MONDO:mim2gene_medgen"} ! KRT17
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0008486
name: steatocystoma multiplex-natal teeth syndrome
def: "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth." [Orphanet:3184]
subset: gard_rare {source="GARD:5004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3184"}
subset: ordo_malformation_syndrome {source="Orphanet:3184"}
subset: orphanet_rare {source="Orphanet:3184"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Natal teeth and steatocystoma multiplex" RELATED [GARD:0005004]
synonym: "STEATOCYSTOMA multiplex with NATAL teeth" RELATED [OMIM:184510]
xref: GARD:5004 {source="MONDO:GARD"}
xref: ICD10CM:L72.2 {source="Orphanet:3184/attributed", source="Orphanet:3184/ntbt", source="Orphanet:3184"}
xref: MEDGEN:356586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537487 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="Orphanet:3184"}
xref: OMIM:184510 {source="Orphanet:3184/e", source="MONDO:equivalentTo", source="Orphanet:3184"}
xref: Orphanet:3184 {source="MONDO:equivalentTo", source="OMIM:184510"}
xref: UMLS:C1866650 {source="MEDGEN:356586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3184", source="Orphanet:3184/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0021029 {source="Orphanet:3184", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary sebaceous gland anomaly
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008487
name: polycystic ovary syndrome
def: "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperandrogenemia" RELATED [OMIM:184700]
synonym: "multicystic ovaries" EXACT [DOID:11612]
synonym: "PCO1" RELATED [OMIM:184700]
synonym: "PCOS" EXACT ABBREVIATION [DOID:11612, OMIM:184700, Orphanet:3185]
synonym: "PCOS1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:184700]
synonym: "polycystic ovarian disease" EXACT [DOID:11612, NCIT:C27086]
synonym: "polycystic ovaries" EXACT [DOID:11612, ICD9CM:256.4]
synonym: "polycystic ovary" EXACT [DOID:11612]
synonym: "polycystic ovary syndrome" EXACT [DOID:11612]
synonym: "polycystic ovary syndrome 1" NARROW [MONDO:Lexical, OMIM:184700, OMIM:genemap2]
synonym: "Stein-Leventhal synd." EXACT [DOID:11612]
synonym: "Stein-Leventhal syndrome" EXACT [DOID:11612, NCIT:C26862, OMIM:184700, Orphanet:3185]
xref: DOID:11612 {source="EFO:0000660", source="MONDO:equivalentTo"}
xref: EFO:0000660 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E28.2 {source="DOID:11612"}
xref: ICD9:256.4 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:10836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011085 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"}
xref: NANDO:2100149 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200409 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26862 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"}
xref: OMIM:184700 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"}
xref: Orphanet:3185 {source="OMIM:184700", source="MONDO:equivalentObsolete"}
xref: SCTID:154714009 {source="DOID:11612"}
xref: SCTID:190549002 {source="DOID:11612"}
xref: SCTID:237055002 {source="DOID:11612"}
xref: SCTID:237792009 {source="DOID:11612"}
xref: SCTID:271199009 {source="DOID:11612"}
xref: SCTID:69878008 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"}
xref: UMLS:C0032460 {source="MEDGEN:10836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:11612", source="NCIT:C26862"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005151 {source="EFO:0000660", source="MESH:D011085/inferred"} ! endocrine system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008488
name: holoprosencephaly-radial heart renal anomalies syndrome
def: "Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." [Orphanet:3186]
subset: gard_rare {source="GARD:2727", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3186"}
subset: ordo_malformation_syndrome {source="Orphanet:3186"}
subset: orphanet_rare {source="Orphanet:3186"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "holoprosencephaly radial heart renal anomalies" RELATED [GARD:0002727]
synonym: "STEINFELD syndrome" RELATED [OMIM:184705]
synonym: "Steinfeld syndrome" EXACT [Orphanet:3186]
xref: GARD:2727 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3186/attributed", source="Orphanet:3186/ntbt", source="Orphanet:3186"}
xref: MEDGEN:401047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566655 {source="MONDO:equivalentTo"}
xref: OMIM:184705 {source="Orphanet:3186/e", source="MONDO:equivalentTo", source="GARD:0002727", source="Orphanet:3186"}
xref: Orphanet:3186 {source="MONDO:equivalentTo", source="OMIM:184705", source="GARD:0002727"}
xref: SCTID:716233007 {source="MONDO:equivalentTo"}
xref: UMLS:C1866649 {source="MEDGEN:401047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:3186"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3186", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome" xsd:anyURI {source="GARD:0002727"}

[Term]
id: MONDO:0008489
name: sternum, premature obliteration of sutures of
synonym: "sternum, premature obliteration of sutures of" EXACT [OMIM:184800]
xref: MEDGEN:396144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:184800 {source="MONDO:equivalentTo"}
xref: UMLS:C1861485 {source="MONDO:equivalentTo", source="MEDGEN:396144", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008490
name: otospondylomegaepiphyseal dysplasia, autosomal dominant
def: "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." [Orphanet:166100]
subset: gard_rare {source="GARD:5021", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1533"}
subset: ordo_disorder {source="Orphanet:166100"}
subset: ordo_malformation_syndrome {source="Orphanet:166100", source="Orphanet:3450"}
subset: orphanet_rare {source="Orphanet:166100"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COL11A2 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "heterozygous OSMED" EXACT [Orphanet:3450]
synonym: "heterozygous otospondylomegaepiphyseal dysplasia" EXACT [Orphanet:3450]
synonym: "OSMED, Heterozygous" EXACT [NORD:1533]
synonym: "OSMED, heterozygous" EXACT [OMIM:184840]
synonym: "OSMEDA" EXACT ABBREVIATION [OMIM:184840]
synonym: "otospondylomegaepiphyseal dysplasia, autosomal dominant" EXACT [OMIM:184840]
synonym: "Piere-Robin syndrome" EXACT [DOID:4258]
synonym: "Pierre Robin malformation" EXACT [DOID:4258]
synonym: "Pierre Robin sequence-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450]
synonym: "Pierre Robin syndrome with fetal chondrodysplasia" EXACT [OMIM:277610]
synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT [OMIM:184840]
synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" EXACT [OMIM:184840]
synonym: "Pierre Robin syndrome with foetal chondrodysplasia" EXACT OMO:0003005 []
synonym: "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT OMO:0003005 []
synonym: "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" EXACT OMO:0003005 []
synonym: "Pierre Robin syndrome-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450]
synonym: "Stickler syndrome caused by mutation in COL11A2" EXACT [MONDO:design_pattern]
synonym: "Stickler syndrome nonocular type" RELATED [GARD:0005021]
synonym: "Stickler syndrome, non-ocular type" EXACT [Orphanet:166100]
synonym: "Stickler syndrome, Nonocular type" RELATED [OMIM:184840]
synonym: "Stickler syndrome, type 3" EXACT [GARD:0005021]
synonym: "STICKLER syndrome, type III" EXACT [MONDO:Lexical, OMIM:184840]
synonym: "Stickler syndrome, type III, formerly" EXACT [OMIM:184840]
synonym: "STL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:184840]
synonym: "Weissenbacher- Zweymuller syndrome" RELATED [Orphanet:3450]
synonym: "Weissenbacher-Zweymuller syndrome" EXACT [MONDO:0010195, MONDO:Lexical, OMIM:277610]
synonym: "Weissenbacher-Zweymüller syndrome" RELATED [GARD:0004351]
synonym: "WZS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:277610]
xref: DOID:0080677 {source="MONDO:equivalentTo"}
xref: DOID:4258 {source="MONDO:equivalentTo"}
xref: GARD:5021 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:3450/attributed", source="Orphanet:3450/ntbt", source="Orphanet:3450"}
xref: ICD10CM:Q87.5 {source="Orphanet:166100/attributed", source="Orphanet:166100/ntbt", source="Orphanet:166100"}
xref: MEDGEN:341234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535776 {source="MONDO:equivalentTo"}
xref: MESH:C537494 {source="Orphanet:166100", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:166100/e"}
xref: NORD:1533 {source="MONDO:NORD"}
xref: OMIM:184840 {source="Orphanet:166100", source="MONDO:equivalentTo", source="Orphanet:166100/e"}
xref: OMIM:277610 {source="MONDO:equivalentObsolete", source="Orphanet:3450/e", source="MONDO:preferredExternal", source="Orphanet:3450"}
xref: Orphanet:166100 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:184840"}
xref: Orphanet:3450 {source="MONDO:equivalentObsolete", source="OMIM:277610"}
xref: SCTID:156908005 {source="DOID:4258"}
xref: SCTID:268313009 {source="DOID:4258"}
xref: SCTID:4602007 {source="MONDO:relatedTo", source="DOID:4258"}
xref: SCTID:699313003 {source="MONDO:equivalentTo"}
xref: UMLS:C1848488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341234"}
is_a: MONDO:0008975 {source="OMIM:184840"} ! otospondylomegaepiphyseal dysplasia
is_a: MONDO:0015161 {source="Orphanet:166100"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016761 {source="Orphanet:166100", source="Orphanet:3450"} ! spondyloepiphyseal dysplasia
relationship: disease_has_feature MONDO:0004603 ! collagenopathy
relationship: excluded_subClassOf MONDO:0019354 {source="DC-OMIM:184840", source="https://orcid.org/0000-0001-5208-3432"} ! Stickler syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008491
name: stiff-person syndrome
def: "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." [Orphanet:3198]
subset: gard_rare {source="GARD:5023", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1740"}
subset: ordo_disorder {source="Orphanet:3198"}
subset: orphanet_rare {source="Orphanet:3198"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Moersch-Woltman syndrome" EXACT [Orphanet:3198]
synonym: "Morsch Woltman syndrome" RELATED [GARD:0005023]
synonym: "progressive encephalomyelitis with rigidity" RELATED [OMIM:184850]
synonym: "SMS" RELATED ABBREVIATION [Orphanet:3198]
synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184850, Orphanet:3198]
synonym: "Stiff man syndrome" EXACT [Orphanet:3198]
synonym: "stiff man syndrome" EXACT [DOID:13366]
synonym: "Stiff Person Syndrome" EXACT [NORD:1740]
synonym: "Stiff Person syndrome" EXACT [NCIT:C85170]
synonym: "Stiff person syndrome and related disorders" RELATED [Orphanet:3198]
synonym: "Stiff-Man syndrome" RELATED [OMIM:184850]
synonym: "Stiff-man syndrome" EXACT [DOID:13366, ICD9CM:333.91]
synonym: "STIFF-PERSON syndrome" RELATED [OMIM:184850]
synonym: "stiff-person syndrome" EXACT [MONDO:Lexical, OMIM:184850]
synonym: "Stiff-trunk syndrome" RELATED [OMIM:184850]
xref: DOID:13366 {source="MONDO:equivalentTo", source="EFO:0007498"}
xref: EFO:0007498 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5023 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="Orphanet:3198/ntbt", source="Orphanet:3198"}
xref: ICD10CM:G25.82 {source="DOID:13366"}
xref: ICD9:333.91 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13366"}
xref: MedDRA:10042044 {source="Orphanet:3198/e", source="Orphanet:3198"}
xref: MEDGEN:39017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016750 {source="MONDO:equivalentTo", source="DOID:13366", source="EFO:0007498"}
xref: NCIT:C85170 {source="MONDO:equivalentTo", source="DOID:13366"}
xref: NORD:1740 {source="MONDO:NORD"}
xref: OMIM:184850 {source="Orphanet:3198/e", source="MONDO:equivalentTo", source="DOID:13366", source="Orphanet:3198"}
xref: Orphanet:3198 {source="MONDO:equivalentTo", source="OMIM:184850"}
xref: SCTID:5217008 {source="MONDO:equivalentTo", source="DOID:13366"}
xref: UMLS:C0085292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39017"}
is_a: MONDO:0002254 {source="NCIT:C85170"} ! syndromic disease
is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder
relationship: disease_has_feature HP:0002063 ! Rigidity
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0008492
name: stiff skin syndrome
def: "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy." [https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome]
subset: gard_rare {source="GARD:5025", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2833"}
subset: orphanet_rare {source="Orphanet:2833"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SSKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184900]
synonym: "STIFF skin syndrome" RELATED [OMIM:184900]
synonym: "stiff skin syndrome" EXACT [MONDO:Lexical, OMIM:184900]
xref: DOID:0111561 {source="MONDO:equivalentTo"}
xref: GARD:5025 {source="MONDO:GARD"}
xref: ICD10CM:L98.8 {source="Orphanet:2833", source="Orphanet:2833/attributed", source="Orphanet:2833/ntbt"}
xref: MEDGEN:348877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566112 {source="MONDO:equivalentTo"}
xref: NCIT:C118636 {source="MONDO:equivalentTo"}
xref: OMIM:184900 {source="MONDO:equivalentTo", source="Orphanet:2833", source="Orphanet:2833/e"}
xref: Orphanet:2833 {source="OMIM:184900", source="MONDO:equivalentTo"}
xref: SCTID:765187004 {source="MONDO:equivalentTo"}
xref: UMLS:C1861456 {source="MONDO:equivalentTo", source="MEDGEN:348877", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="Orphanet:2833", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome" xsd:anyURI {source="GARD:0005025"}

[Term]
id: MONDO:0008493
name: overhydrated hereditary stomatocytosis
def: "Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia." [Orphanet:3203]
subset: gard_rare {source="GARD:4183", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3203"}
subset: orphanet_rare {source="Orphanet:3203"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185000]
synonym: "OHST" RELATED ABBREVIATION [OMIM:185000]
synonym: "OVERHYDRATED hereditary stomatocytosis" RELATED [OMIM:185000]
synonym: "overhydrated hereditary stomatocytosis" EXACT [MONDO:Lexical, OMIM:185000]
synonym: "Potassium sodium disorder of erythrocyte" RELATED [GARD:0004183]
synonym: "Potassium-sodium disorder of erythrocyte" RELATED [OMIM:185000]
synonym: "stomatocytosis 1" RELATED [OMIM:185000]
synonym: "stomatocytosis I" RELATED [GARD:0004183]
xref: DOID:0111562 {source="MONDO:equivalentTo"}
xref: GARD:4183 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:3203/attributed", source="Orphanet:3203/ntbt", source="Orphanet:3203"}
xref: MEDGEN:348876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566111 {source="MONDO:equivalentTo"}
xref: OMIM:185000 {source="Orphanet:3203", source="MONDO:equivalentTo", source="Orphanet:3203/e"}
xref: Orphanet:3203 {source="MONDO:equivalentTo", source="OMIM:185000"}
xref: SCTID:722125003 {source="MONDO:equivalentTo"}
xref: UMLS:C1861455 {source="MEDGEN:348876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020102 {source="Orphanet:3203"} ! hereditary stomatocytosis

[Term]
id: MONDO:0008494
name: cryohydrocytosis
def: "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." [Orphanet:398088]
subset: gard_rare {source="GARD:10184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398088"}
subset: orphanet_rare {source="Orphanet:398088"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHC" EXACT ABBREVIATION [OMIM:185020]
synonym: "cryohydrocytosis" EXACT [OMIM:185020]
synonym: "hereditary cryohydrocytosis with normal stomatin" EXACT [Orphanet:398088]
synonym: "pseudohyperkalemia Cardiff" RELATED [OMIM:185020]
synonym: "stomatocytosis, cold-sensitive" EXACT [OMIM:185020]
xref: GARD:10184 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:398088", source="Orphanet:398088/attributed", source="Orphanet:398088/ntbt"}
xref: MEDGEN:396137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535827 {source="MONDO:equivalentTo"}
xref: OMIM:185020 {source="Orphanet:398088", source="MONDO:equivalentTo", source="Orphanet:398088/e"}
xref: Orphanet:398088 {source="MONDO:equivalentTo"}
xref: Orphanet:90044 {source="OMIM:185020"}
xref: UMLS:C1861453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396137"}
is_a: MONDO:0020102 ! hereditary stomatocytosis

[Term]
id: MONDO:0008495
name: platelet storage pool deficiency
def: "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." [https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency]
subset: gard_rare {source="GARD:5034", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:734"}
subset: orphanet_rare {source="Orphanet:734"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha delta granule deficiency" RELATED [Orphanet:734]
synonym: "alpha dense granule deficiency" EXACT [Orphanet:734]
synonym: "combined alpha-delta platelet storage pool deficiency" EXACT [Orphanet:734]
synonym: "dense body defect" EXACT [DOID:2223]
synonym: "platelet dense granule deficiency" EXACT [DOID:2223]
synonym: "platelet storage pool defect" EXACT [DOID:2223]
synonym: "platelet storage pool diseases" RELATED [GARD:0005034]
synonym: "storage pool platelet disease" RELATED [OMIM:185050]
xref: DOID:2223 {source="EFO:1001112", source="MONDO:equivalentTo"}
xref: EFO:1001112 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5034 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:734/attributed", source="Orphanet:734/ntbt", source="Orphanet:734"}
xref: MEDGEN:19351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010981 {source="EFO:1001112", source="DOID:2223", source="MONDO:equivalentTo"}
xref: OMIM:185050 {source="DOID:2223", source="Orphanet:734", source="MONDO:equivalentTo"}
xref: Orphanet:734 {source="MONDO:equivalentTo"}
xref: Orphanet:98454 {source="OMIM:185050"}
xref: SCTID:128099001 {source="EFO:1001112", source="DOID:2223"}
xref: SCTID:129655003 {source="DOID:2223"}
xref: SCTID:234474009 {source="DOID:2223", source="MONDO:equivalentTo"}
xref: SCTID:9417000 {source="DOID:2223"}
xref: UMLS:C0032197 {source="MEDGEN:19351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002245 {source="DOID:2223", source="MESH:D010981", source="MONDO:Redundant"} ! blood platelet disease
is_a: MONDO:0018795 {source="Orphanet:734"} ! syndromic constitutional thrombocytopenia
relationship: disease_has_location CL:0000233 {source="EFO:0000784"} ! platelet
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency" xsd:anyURI {source="GARD:0005034"}

[Term]
id: MONDO:0008496
name: storm syndrome
synonym: "pleiotropic, autosomal dominant disorder affecting connective tissue" RELATED [GARD:0005035]
synonym: "storm syndrome" EXACT [OMIM:185069]
xref: MEDGEN:350029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566109 {source="MONDO:equivalentTo"}
xref: OMIM:185069 {source="MONDO:equivalentTo"}
xref: UMLS:C1861452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350029"}
is_a: MONDO:0003847 {source="MESH:C566109/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5035/storm-syndrome" xsd:anyURI {source="GARD:0005035"}

[Term]
id: MONDO:0008497
name: Stormorken syndrome
def: "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait." [Orphanet:3204]
subset: gard_rare {source="GARD:5188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3204"}
subset: orphanet_rare {source="Orphanet:3204"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Stormorken syndrome" EXACT [MONDO:Lexical, OMIM:185070, Orphanet:3204]
synonym: "Stormorken-Sjaastad-Langslet syndrome" RELATED [Orphanet:3204]
synonym: "STRMK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185070]
synonym: "Thrombocytopathy asplenia miosis" RELATED [GARD:0005188]
synonym: "thrombocytopathy, asplenia and miosis" EXACT [DOID:0060354]
synonym: "Thrombocytopathy, asplenia, and miosis" RELATED [OMIM:185070]
synonym: "Thrombocytopathy-asplenia-miosis syndrome" EXACT [Orphanet:3204]
synonym: "york Platelet syndrome" RELATED [OMIM:185070]
xref: DOID:0060354 {source="MONDO:equivalentTo"}
xref: GARD:5188 {source="MONDO:GARD"}
xref: ICD10CM:D69.8 {source="Orphanet:3204/attributed", source="Orphanet:3204/ntbt", source="Orphanet:3204"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:350028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566108 {source="DOID:0060354", source="MONDO:equivalentTo"}
xref: OMIM:185070 {source="DOID:0060354", source="Orphanet:3204", source="MONDO:equivalentTo", source="Orphanet:3204/e"}
xref: Orphanet:3204 {source="DOID:0060354", source="OMIM:185070", source="MONDO:equivalentTo"}
xref: SCTID:711407000 {source="DOID:0060354", source="MONDO:equivalentTo"}
xref: UMLS:C1861451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350028"}
is_a: MONDO:0002245 {source="DOID:0060354", source="MESH:C566108", source="MONDO:Redundant"} ! blood platelet disease
is_a: MONDO:0018795 {source="Orphanet:3204"} ! syndromic constitutional thrombocytopenia

[Term]
id: MONDO:0008498
name: strabismus, susceptibility to
subset: predisposition
synonym: "strabismus, susceptibility to" EXACT [OMIM:185100]
synonym: "strabismus, susceptibility to, 1" RELATED [OMIM:185100]
xref: MEDGEN:350026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:185100 {source="MONDO:equivalentTo"}
xref: UMLS:C1861449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350026"}
is_a: MONDO:0020573 {source="OMIM:185100", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0003432 {source="OMIM:185100"} ! strabismus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0008499
name: short stature-wormian bones-dextrocardia syndrome
def: "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia." [Orphanet:2863]
subset: gard_rare {source="GARD:4856", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2863"}
subset: ordo_malformation_syndrome {source="Orphanet:2863"}
subset: orphanet_rare {source="Orphanet:2863"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly" RELATED [OMIM:185120]
synonym: "short stature wormian bones dextrocardia" RELATED [GARD:0004856]
synonym: "Stratton Parker syndrome" RELATED [GARD:0004856]
synonym: "STRATTON-PARKER syndrome" RELATED [OMIM:185120]
synonym: "Stratton-Parker syndrome" EXACT [Orphanet:2863]
xref: GARD:4856 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2863/attributed", source="Orphanet:2863/ntbt", source="Orphanet:2863"}
xref: MEDGEN:350025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566105 {source="MONDO:equivalentTo"}
xref: OMIM:185120 {source="Orphanet:2863", source="MONDO:equivalentTo", source="Orphanet:2863/e"}
xref: Orphanet:2863 {source="MONDO:equivalentTo", source="OMIM:185120"}
xref: SCTID:763631006 {source="MONDO:equivalentTo"}
xref: UMLS:C1861448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350025"}
is_a: MONDO:0015160 {source="Orphanet:2863"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:2863", source="Orphanet:2863/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008500
name: striae distensae, familial
synonym: "striae distensae, familial" EXACT [OMIM:185200]
xref: MEDGEN:348875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566104 {source="MONDO:equivalentTo"}
xref: OMIM:185200 {source="MONDO:equivalentTo"}
xref: UMLS:C1861447 {source="MEDGEN:348875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008501
name: Sturge-Weber syndrome
def: "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." [Orphanet:3205]
subset: gard_rare {source="GARD:7706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1741"}
subset: ordo_disorder {source="Orphanet:3205"}
subset: ordo_malformation_syndrome {source="Orphanet:3205"}
subset: orphanet_rare {source="Orphanet:3205"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Encephalofacial angiomatosis" EXACT [Orphanet:3205]
synonym: "Encephalotrigeminal angiomatosis" EXACT [Orphanet:3205]
synonym: "Encephalotrigeminal syndrome" EXACT [NCIT:C3391]
synonym: "fourth phacomatosis" RELATED [GARD:0007706]
synonym: "leptomeningeal angiomatosis" RELATED [GARD:0007706]
synonym: "meningeal capillary angiomatosis" RELATED [GARD:0007706]
synonym: "Sturge Weber Syndrome" EXACT [NORD:1741]
synonym: "Sturge Weber syndrome" EXACT [GARD:0007706]
synonym: "Sturge-Weber disease" EXACT [NCIT:C3391]
synonym: "STURGE-WEBER syndrome" EXACT [OMIM:185300]
synonym: "Sturge-Weber syndrome" EXACT [MONDO:Lexical, OMIM:185300]
synonym: "Sturge-Weber syndrome, somatic, mosaic" EXACT [OMIM:185300, OMIM:genemap2]
synonym: "Sturge-Weber-Dimitri syndrome" EXACT [Orphanet:3205]
synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT [Orphanet:3205]
synonym: "Sturge-Weber-Krabbe syndrome" EXACT [Orphanet:3205]
synonym: "SWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:185300, Orphanet:3205]
synonym: "SWS type I - Facial and leptomeningeal angiomas" RELATED [GARD:0007706]
synonym: "SWS type II - Facial angioma alone, no CNS involvement" RELATED [GARD:0007706]
synonym: "SWS type III - isolated leptomeningeal angiomas" RELATED [GARD:0007706]
xref: DOID:0111563 {source="MONDO:equivalentTo"}
xref: GARD:7706 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:3205/inclusion", source="Orphanet:3205", source="Orphanet:3205/ntbt"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10042265 {source="Orphanet:3205", source="Orphanet:3205/e"}
xref: MedDRA:10057653 {source="Orphanet:3205", source="Orphanet:3205/e"}
xref: MEDGEN:21361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013341 {source="MONDO:equivalentTo", source="Orphanet:3205", source="Orphanet:3205/e"}
xref: NANDO:1200606 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200830 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3391 {source="MONDO:equivalentTo"}
xref: NORD:1741 {source="MONDO:NORD"}
xref: OMIM:185300 {source="MONDO:equivalentTo", source="Orphanet:3205", source="Orphanet:3205/e"}
xref: Orphanet:3205 {source="MONDO:equivalentTo", source="OMIM:185300"}
xref: SCTID:19886006 {source="MONDO:equivalentTo"}
xref: UMLS:C0038505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21361"}
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0042983 {source="MESH:D013341", source="NCIT:C3391", source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome
relationship: disease_has_feature HP:0000478 ! Abnormality of the eye
relationship: excluded_subClassOf MONDO:0015145 {source="Orphanet:3205", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurovascular malformation
relationship: excluded_subClassOf MONDO:0015218 {source="Orphanet:3205", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic developmental defect of the eye
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:3205", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: excluded_subClassOf MONDO:0015651 {source="Orphanet:3205", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurocutaneous syndrome with epilepsy
relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:3205", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete obsolete rare capillary malformation with associated anomalies
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4390 {source="MONDO:mim2gene_medgen"} ! GNAQ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome" xsd:anyURI {source="GARD:0007706"}

[Term]
id: MONDO:0008502
name: sulfhemoglobinemia, congenital
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "sulfhemoglobinemia, congenital" EXACT [OMIM:185460]
xref: MEDGEN:350024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566102 {source="MONDO:equivalentTo"}
xref: OMIM:185460 {source="MONDO:equivalentTo"}
xref: UMLS:C1861437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350024"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0006988 {source="https://orcid.org/0000-0001-5208-3432"} ! sulfhemoglobinemia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0008503
name: Worster-Drought syndrome
def: "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." [Orphanet:3465]
subset: gard_rare {source="GARD:5598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3465"}
subset: ordo_malformation_syndrome {source="Orphanet:3465"}
subset: orphanet_rare {source="Orphanet:3465"}
subset: rare
synonym: "congenital suprabulbar paresis" EXACT [Orphanet:3465]
synonym: "suprabulbar paresis congenital" RELATED [GARD:0005598]
synonym: "suprabulbar paresis, congenital" RELATED [OMIM:185480]
synonym: "Worster Drought syndrome" RELATED [GARD:0005598]
synonym: "Worster-Drought syndrome" EXACT [OMIM:185480]
xref: GARD:5598 {source="MONDO:GARD"}
xref: ICD10CM:G80.8 {source="Orphanet:3465/ntbt", source="Orphanet:3465"}
xref: icd11.foundation:1834138618 {source="Orphanet:3465", source="MONDO:equivalentTo"}
xref: MEDGEN:163228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536747 {source="Orphanet:3465", source="MONDO:equivalentTo", source="Orphanet:3465/e"}
xref: NANDO:1200558 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:185480 {source="Orphanet:3465", source="MONDO:equivalentTo", source="Orphanet:3465/e"}
xref: Orphanet:3465 {source="OMIM:185480", source="MONDO:equivalentTo"}
xref: SCTID:716335003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163228"}
is_a: MONDO:0005071 {source="Orphanet:3465"} ! nervous system disorder
relationship: disease_has_feature MONDO:0001071 {source="MESH:C536747"} ! intellectual disability
relationship: disease_has_feature MONDO:0006497 {source="https://orcid.org/0000-0002-6601-2165"} ! cerebral palsy
relationship: disease_has_feature MONDO:0008890 {source="MESH:C536747"} ! progressive bulbar palsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome" xsd:anyURI {source="GARD:0005598"}

[Term]
id: MONDO:0008504
name: supravalvular aortic stenosis
def: "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." [Orphanet:3193]
subset: gard_rare {source="GARD:743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3193"}
subset: ordo_morphological_anomaly {source="Orphanet:3193"}
subset: orphanet_rare {source="Orphanet:3193"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aortic supravalvular stenosis" RELATED [GARD:0000743]
synonym: "supra-valvular aortic stenosis" EXACT [DOID:1929]
synonym: "supravalvar aortic stenosis" EXACT [OMIM:185500, OMIM:genemap2]
synonym: "supravalvar aortic stenosis, Eisenberg type" RELATED [OMIM:185500]
synonym: "supravalvular aortic stenosis" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical, OMIM:185500]
synonym: "supravalvular aortic stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "SVAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:185500, Orphanet:3193]
xref: DOID:1929 {source="MONDO:equivalentTo"}
xref: GARD:743 {source="MONDO:GARD"}
xref: HP:0004381 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q25.3 {source="DOID:1929", source="Orphanet:3193/inclusion", source="Orphanet:3193/ntbt", source="Orphanet:3193"}
xref: icd11.foundation:1066595728 {source="MONDO:equivalentTo", source="Orphanet:3193", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10042598 {source="Orphanet:3193/e", source="Orphanet:3193"}
xref: MEDGEN:2001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D021921 {source="Orphanet:3193/e", source="DOID:1929", source="Orphanet:3193"}
xref: NANDO:2200285 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85176 {source="DOID:1929", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: OMIM:185500 {source="Orphanet:3193/e", source="DOID:1929", source="MONDO:equivalentTo", source="Orphanet:3193"}
xref: Orphanet:3193 {source="MONDO:equivalentTo", source="OMIM:185500"}
xref: SCTID:204436002 {source="DOID:1929"}
xref: SCTID:268185002 {source="DOID:1929", source="MONDO:equivalentTo"}
xref: UMLS:C0003499 {source="MEDGEN:2001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0042981 {source="DOID:1929"} ! aortic valve stenosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3327 {source="MONDO:mim2gene_medgen"} ! ELN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "supravalvular aortic stenosis (disease)" xsd:string

[Term]
id: MONDO:0008505
name: surface antigen, glycoprotein 75
synonym: "surface antigen, glycoprotein 75" EXACT [OMIM:185540]
synonym: "surface antigen, glycoprotein type 75" EXACT [MONDORULE:2, OMIM:185540]
synonym: "surface glycoprotein 75" RELATED [OMIM:185540]
xref: MEDGEN:396130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:185540 {source="MONDO:equivalentTo"}
xref: UMLS:C1861423 {source="MEDGEN:396130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008506
name: symphalangism of toes
synonym: "symphalangism of toes" EXACT [OMIM:185600]
xref: MEDGEN:396129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566101 {source="MONDO:equivalentTo"}
xref: OMIM:185600 {source="MONDO:equivalentTo"}
xref: UMLS:C1861418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396129"}
is_a: MONDO:0000151 {source="DC-OMIM:185600"} ! symphalangism
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008507
name: surface polypeptides, anonymous
synonym: "Spa2" RELATED [OMIM:185610]
synonym: "Spa5" RELATED [OMIM:185610]
synonym: "surface polypeptides, anonymous" EXACT [OMIM:185610]
xref: MEDGEN:348354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:185610 {source="MONDO:equivalentTo"}
xref: UMLS:C1861417 {source="MEDGEN:348354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008508
name: symphalangism, C. S. Lewis type
subset: n_of_one {source="https://orcid.org/0000-0002-6601-2165"}
synonym: "symphalangism, C. S. Lewis type" EXACT [OMIM:185650]
synonym: "thumbs, stiff" RELATED [OMIM:185650]
xref: MEDGEN:396126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566100 {source="MONDO:equivalentTo"}
xref: OMIM:185650 {source="MONDO:equivalentTo"}
xref: UMLS:C1861404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396126"}
is_a: MONDO:0000151 {source="DC-OMIM:185650"} ! symphalangism
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008509
name: distal symphalangism
def: "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet." [Orphanet:3248]
subset: gard_rare {source="GARD:5074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3248"}
subset: ordo_morphological_anomaly {source="Orphanet:3248"}
subset: orphanet_rare {source="Orphanet:3248"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal symphalangism" EXACT [MONDO:ambiguous]
synonym: "distal symphalangism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Sym2" RELATED [OMIM:185700]
synonym: "symphalangism, distal" RELATED [OMIM:185700]
xref: GARD:5074 {source="MONDO:GARD"}
xref: HP:0100263 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q70.9 {source="Orphanet:3248/attributed", source="Orphanet:3248/ntbt", source="Orphanet:3248"}
xref: MEDGEN:350018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566099 {source="MONDO:equivalentTo"}
xref: OMIM:185700 {source="Orphanet:3248", source="MONDO:equivalentTo", source="Orphanet:3248/e"}
xref: Orphanet:3248 {source="OMIM:185700", source="MONDO:equivalentTo"}
xref: UMLS:C1861401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350018"}
is_a: MONDO:0000151 {source="DC-OMIM:185700"} ! symphalangism
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000589 "distal symphalangism (disease)" xsd:string

[Term]
id: MONDO:0008510
name: symphalangism with multiple anomalies of hands and feet
def: "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981." [Orphanet:3246]
subset: gard_rare {source="GARD:5077", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3246"}
subset: ordo_malformation_syndrome {source="Orphanet:3246"}
subset: orphanet_rare {source="Orphanet:3246"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Learman syndrome" EXACT [Orphanet:3246]
synonym: "symphalangism with multiple anomalies of hands and feet" EXACT [OMIM:185750]
xref: GARD:5077 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:3246", source="Orphanet:3246/attributed", source="Orphanet:3246/ntbt"}
xref: MEDGEN:348859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566098 {source="MONDO:equivalentTo"}
xref: OMIM:185750 {source="Orphanet:3246", source="MONDO:equivalentTo", source="Orphanet:3246/e"}
xref: Orphanet:3246 {source="MONDO:equivalentTo", source="OMIM:185750"}
xref: SCTID:732955001 {source="MONDO:equivalentTo"}
xref: UMLS:C1861391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348859"}
is_a: MONDO:0000151 {source="https://orcid.org/0000-0001-5208-3432"} ! symphalangism
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet" xsd:anyURI {source="GARD:0005077"}

[Term]
id: MONDO:0008511
name: proximal symphalangism
def: "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients." [Orphanet:3250]
subset: gard_rare {source="GARD:8182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3250"}
subset: ordo_malformation_syndrome {source="Orphanet:3250"}
subset: orphanet_rare {source="Orphanet:3250"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Cushing's symphalangism" EXACT [DOID:0050788]
synonym: "hereditary absence of proximal interphalangeal joints" RELATED [GARD:0008182]
synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [OMIM:185800]
synonym: "proximal symphalangism" EXACT [MONDO:ambiguous]
synonym: "proximal symphalangism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Strasburger-Hawkins-Eldridge syndrome" RELATED [GARD:0008182]
synonym: "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome" RELATED [GARD:0008182]
synonym: "symphalangism, Cushing type" EXACT [Orphanet:3250]
synonym: "vessel’s syndrome" RELATED [GARD:0008182]
xref: DOID:0050788 {source="MONDO:equivalentTo"}
xref: GARD:8182 {source="MONDO:GARD"}
xref: HP:0100264 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q70.9 {source="Orphanet:3250/attributed", source="Orphanet:3250/ntbt", source="Orphanet:3250"}
xref: MEDGEN:348856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536223 {source="Orphanet:3250/e", source="MONDO:equivalentTo", source="Orphanet:3250"}
xref: OMIMPS:185800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:3250 {source="OMIM:185800", source="MONDO:equivalentTo"}
xref: UMLS:C1861385 {source="MEDGEN:348856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000151 {source="DC-OMIM:185800"} ! symphalangism
is_a: MONDO:0000426 {source="DOID:0050788", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:185800", source="Orphanet:3250"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:185800"} ! inherited
property_value: IAO:0000589 "proximal symphalangism (disease)" xsd:string

[Term]
id: MONDO:0008512
name: syndactyly type 1
def: "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." [Orphanet:93402]
subset: gard_rare {source="GARD:5081", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93402"}
subset: ordo_morphological_anomaly {source="Orphanet:93402"}
subset: orphanet_rare {source="Orphanet:93402"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 2q35 DUPLICATION syndrome" RELATED [OMIM:185900]
synonym: "craniosynostosis, Philadelphia type" RELATED [OMIM:185900]
synonym: "Sd1" RELATED [OMIM:185900]
synonym: "SDTY1" RELATED ABBREVIATION [GARD:0005081]
synonym: "syndactyly, type 1" RELATED [OMIM:185900]
synonym: "syndactyly, type 1, with or without craniosynostosis" EXACT [OMIM:185900, OMIM:genemap2]
synonym: "Zygodactyly" RELATED [OMIM:185900]
xref: DOID:0111816 {source="MONDO:equivalentTo"}
xref: GARD:5081 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"}
xref: ICD10CM:Q70.1 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"}
xref: ICD10CM:Q70.2 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"}
xref: ICD10CM:Q70.3 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"}
xref: MEDGEN:348343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:185900 {source="MONDO:equivalentTo", source="Orphanet:93402", source="Orphanet:93402/e"}
xref: Orphanet:1527 {source="MONDO:relatedTo", source="OMIM:185900"}
xref: Orphanet:93402 {source="OMIM:185900", source="MONDO:equivalentTo"}
xref: SCTID:715723008 {source="MONDO:equivalentTo"}
xref: UMLS:C1861380 {source="MEDGEN:348343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DC-OMIM:185900"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016953 {source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of the long arm of chromosome 2
is_a: MONDO:0019530 {source="DC-OMIM:185900", source="Orphanet:93402"} ! non-syndromic syndactyly
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: disease_arises_from_structure CHR:9606-chr2q35 {source="OMIM:185900"} ! 2q35 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008513
name: synpolydactyly type 1
def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editors note: check whether is_a: MONDO:0019683 is appropriate
subset: gard_rare {source="GARD:17358", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295195"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HOXD13 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic synpolydactyly caused by mutation in HOXD13" EXACT [MONDO:design_pattern]
synonym: "SD2, Vordingborg type" EXACT [Orphanet:295195]
synonym: "SD2a" EXACT [Orphanet:295195]
synonym: "SPD, Vordingborg type" EXACT [Orphanet:295195]
synonym: "SPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:186000, Orphanet:295195]
synonym: "syndactyly, type 2" RELATED [OMIM:186000]
synonym: "synpolydactyly 1" RELATED [MONDO:Lexical, OMIM:186000]
synonym: "synpolydactyly type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:186000]
synonym: "synpolydactyly with foot anomalies" RELATED [OMIM:186000]
synonym: "synpolydactyly, Vordingborg type" EXACT [Orphanet:295195]
xref: GARD:17358 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"}
xref: ICD10CM:Q70.2 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"}
xref: MEDGEN:1809573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:186000 {source="Orphanet:295195", source="MONDO:equivalentTo", source="Orphanet:295195/e"}
xref: Orphanet:295195 {source="MONDO:equivalentTo", source="OMIM:186000"}
xref: Orphanet:93403 {source="OMIM:186000"}
xref: UMLS:C5574994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809573"}
is_a: MONDO:0000722 {source="DC-OMIM:186000", source="MONDO:Redundant"} ! non-syndromic synpolydactyly
is_a: MONDO:0021651 {source="Orphanet:295195"} ! synpolydactyly
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0000722 ! non-syndromic synpolydactyly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 ! HOXD13
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008514
name: syndactyly type 3
def: "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." [Orphanet:93404]
subset: gard_rare {source="GARD:5088", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93404"}
subset: ordo_morphological_anomaly {source="Orphanet:93404"}
subset: orphanet_rare {source="Orphanet:93404"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GJA1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic syndactyly caused by mutation in GJA1" EXACT [MONDO:design_pattern]
synonym: "Ring and Little finger syndactyly" RELATED [OMIM:186100]
synonym: "SD3" EXACT ABBREVIATION [Orphanet:93404]
synonym: "Sdty3" RELATED [OMIM:186100]
synonym: "syndactyly of fingers 4 and 5" EXACT [OMIM:186100, Orphanet:93404]
synonym: "syndactyly of fingers four and five" RELATED [GARD:0005088]
synonym: "syndactyly of the ring and little finger" RELATED [GARD:0005088]
synonym: "syndactyly, type 3" RELATED [OMIM:186100]
synonym: "syndactyly, type III" RELATED [OMIM:186100]
xref: DOID:0111817 {source="MONDO:equivalentTo"}
xref: GARD:5088 {source="MONDO:GARD"}
xref: ICD10CM:Q70.1 {source="Orphanet:93404/attributed", source="Orphanet:93404/ntbt", source="Orphanet:93404"}
xref: MEDGEN:396117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538154 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"}
xref: OMIM:186100 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"}
xref: Orphanet:93404 {source="MONDO:equivalentTo", source="OMIM:186100"}
xref: SCTID:715725001 {source="MONDO:equivalentTo"}
xref: UMLS:C1861366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396117"}
is_a: MONDO:0019530 {source="DC-OMIM:186100", source="MONDO:Redundant", source="Orphanet:93404"} ! non-syndromic syndactyly
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0019530 ! non-syndromic syndactyly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 ! GJA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3" xsd:anyURI {source="GARD:0005088"}

[Term]
id: MONDO:0008515
name: syndactyly type 4
def: "A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." [https://orcid.org/0000-0001-5208-3432, Orphanet:93405]
subset: gard_rare {source="GARD:4434", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93405"}
subset: ordo_morphological_anomaly {source="Orphanet:93405"}
subset: orphanet_rare {source="Orphanet:93405"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Haas type syndactyly" RELATED [OMIM:186200]
synonym: "LMBR1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic syndactyly caused by mutation in LMBR1" EXACT [MONDO:design_pattern]
synonym: "polysyndactyly type Haas" RELATED [GARD:0004434]
synonym: "polysyndactyly, Haas type" EXACT [OMIM:186200, Orphanet:93405]
synonym: "Sd4" RELATED [OMIM:186200]
synonym: "SDTY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186200]
synonym: "syndactyly, type 4" RELATED [OMIM:186200]
synonym: "syndactyly, type IV" RELATED [MONDO:Lexical, OMIM:186200]
xref: DOID:0111818 {source="MONDO:equivalentTo"}
xref: GARD:4434 {source="MONDO:GARD"}
xref: ICD10CM:Q70.4 {source="Orphanet:93405", source="Orphanet:93405/attributed", source="Orphanet:93405/ntbt"}
xref: MEDGEN:350013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566092 {source="MONDO:equivalentTo"}
xref: OMIM:186200 {source="Orphanet:93405/e", source="MONDO:equivalentTo", source="Orphanet:93405"}
xref: Orphanet:93405 {source="MONDO:equivalentTo", source="OMIM:186200"}
xref: SCTID:719158007 {source="MONDO:equivalentTo"}
xref: UMLS:C1861355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350013"}
is_a: MONDO:0019530 {source="DC-OMIM:186200", source="MONDO:Redundant", source="Orphanet:93405"} ! non-syndromic syndactyly
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0019530 ! non-syndromic syndactyly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 ! LMBR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4" xsd:anyURI {source="GARD:0004434"}

[Term]
id: MONDO:0008516
name: syndactyly type 5
def: "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." [Orphanet:93406]
subset: gard_rare {source="GARD:5089", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93406"}
subset: ordo_morphological_anomaly {source="Orphanet:93406"}
subset: orphanet_rare {source="Orphanet:93406"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "postaxial syndactyly with metacarpal synostosis" EXACT [Orphanet:93406]
synonym: "SD5" EXACT ABBREVIATION [Orphanet:93406]
synonym: "SDTY5" RELATED ABBREVIATION [OMIM:186300]
synonym: "syndactyly with associated metacarpal and metatarsal fusion" RELATED [GARD:0005089]
synonym: "syndactyly with metacarpal and metatarsal fusion" RELATED [OMIM:186300]
synonym: "syndactyly, type 5" RELATED [OMIM:186300]
synonym: "syndactyly, type V" RELATED [OMIM:186300]
xref: DOID:0111819 {source="MONDO:equivalentTo"}
xref: GARD:5089 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"}
xref: ICD10CM:Q70.2 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"}
xref: MEDGEN:350010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538155 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"}
xref: OMIM:186300 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"}
xref: Orphanet:93406 {source="MONDO:equivalentTo", source="OMIM:186300"}
xref: SCTID:719159004 {source="MONDO:equivalentTo"}
xref: UMLS:C1861348 {source="MONDO:equivalentTo", source="MEDGEN:350010", source="MONDO:MEDGEN"}
is_a: MONDO:0019530 {source="DC-OMIM:186300", source="Orphanet:93406"} ! non-syndromic syndactyly
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5" xsd:anyURI {source="GARD:0005089"}

[Term]
id: MONDO:0008517
name: syndactyly-polydactyly-ear lobe syndrome
subset: gard_rare {source="GARD:5090", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3259"}
subset: ordo_malformation_syndrome {source="Orphanet:3259"}
subset: orphanet_rare {source="Orphanet:3259"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hallux syndactyly ulnar polydactyly abnormal ear lobes" RELATED [GARD:0005090]
synonym: "Spel syndrome" RELATED [OMIM:186350]
synonym: "syndactyly-polydactyly-earlobe syndrome" RELATED [OMIM:186350]
xref: GARD:5090 {source="MONDO:GARD"}
xref: MEDGEN:348333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566091 {source="MONDO:equivalentTo"}
xref: OMIM:186350 {source="Orphanet:3259", source="MONDO:equivalentTo", source="Orphanet:3259/e"}
xref: Orphanet:3259 {source="MONDO:equivalentTo", source="OMIM:186350"}
xref: UMLS:C1861347 {source="MEDGEN:348333", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:3259"} ! syndromic disease

[Term]
id: MONDO:0008518
name: calcaneonavicular coalition
def: "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." [DOID:14762, http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome]
subset: gard_rare {source="GARD:9863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "calcaneonavicular coalition" EXACT [OMIM:186400]
synonym: "multiple synostosis syndrome" EXACT [DOID:14762]
synonym: "synostoses, tarsal, carpal and digital" EXACT [DOID:14762]
synonym: "synostoses, tarsal, carpal, and digital" RELATED [OMIM:186400]
xref: DOID:14762 {source="MONDO:equivalentTo"}
xref: GARD:9863 {source="MONDO:GARD"}
xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:360296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538156 {source="MONDO:equivalentTo"}
xref: OMIM:186400 {source="MONDO:equivalentTo", source="DOID:14762"}
xref: Orphanet:1412 {source="OMIM:186400"}
xref: SCTID:62628008 {source="MONDO:equivalentTo", source="DOID:14762"}
xref: UMLS:C1876184 {source="MEDGEN:360296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001411 {source="DOID:14762", source="MESH:C538156"} ! synostosis
relationship: excluded_subClassOf MONDO:0008521 {source="Orphanet:1412/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! tarsal-carpal coalition syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:186400"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0008519
name: multiple synostoses syndrome 1
def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15115", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness-symphalangism syndrome of Herrmann" RELATED [OMIM:186500]
synonym: "facioaudiosymphalangism syndrome" RELATED [OMIM:186500]
synonym: "multiple synostoses syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:186500]
synonym: "multiple synostoses syndrome caused by mutation in NOG" EXACT []
synonym: "multiple synostoses syndrome caused by mutation in nog" EXACT [MONDO:design_pattern]
synonym: "multiple synostoses syndrome type 1" EXACT [MONDORULE:1, OMIM:186500]
synonym: "NOG multiple synostoses syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nog multiple synostoses syndrome" EXACT [MONDO:design_pattern]
synonym: "symphalangism brachydactyly syndrome" RELATED [GARD:0003836]
synonym: "symphalangism-brachydactyly syndrome" RELATED [OMIM:186500]
synonym: "synostoses multiple with brachydactyly" RELATED [GARD:0003836]
synonym: "synostoses, multiple, with brachydactyly" RELATED [OMIM:186500]
synonym: "SYNS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186500]
synonym: "Wl syndrome" RELATED [OMIM:186500]
xref: DOID:0081317 {source="MONDO:equivalentTo"}
xref: GARD:15115 {source="MONDO:GARD"}
xref: MEDGEN:90977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:186500 {source="MONDO:equivalentTo"}
xref: Orphanet:3237 {source="OMIM:186500"}
xref: UMLS:C0342282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90977"}
is_a: MONDO:0017923 {source="DC-OMIM:186500", source="MONDO:Redundant", source="OMIM:186500"} ! multiple synostoses syndrome
is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder
intersection_of: MONDO:0017923 ! multiple synostoses syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:anyURI

[Term]
id: MONDO:0008520
name: brachydactyly-elbow wrist dysplasia syndrome
def: "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." [Orphanet:1275]
subset: gard_rare {source="GARD:966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1275"}
subset: ordo_malformation_syndrome {source="Orphanet:1275"}
subset: orphanet_rare {source="Orphanet:1275"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly elbow wrist dysplasia" RELATED [GARD:0000966]
synonym: "brachydactyly with Joint dysplasia" RELATED [OMIM:186550]
synonym: "brachydactyly with joint dysplasia" RELATED [GARD:0000966]
synonym: "brachydactyly-joint dysplasia syndrome" EXACT [Orphanet:1275]
synonym: "carpal synostosis with dysplastic elbow joints and brachydactyly" RELATED [GARD:0000966]
synonym: "LBNBG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186550]
synonym: "LIEBENBERG syndrome" RELATED [OMIM:186550]
synonym: "Liebenberg syndrome" EXACT [GARD:0000966, MONDO:Lexical, OMIM:186550, Orphanet:1275]
synonym: "synostosis, carpal, with dysplastic elbow joints and brachydactyly" RELATED [OMIM:186550]
xref: GARD:966 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:1275", source="Orphanet:1275/attributed", source="Orphanet:1275/ntbt"}
xref: MEDGEN:396103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566090 {source="MONDO:equivalentTo"}
xref: OMIM:186550 {source="Orphanet:1275", source="MONDO:equivalentTo", source="Orphanet:1275/e", source="GARD:0000966"}
xref: Orphanet:1275 {source="MONDO:equivalentTo", source="OMIM:186550", source="GARD:0000966"}
xref: SCTID:764437006 {source="MONDO:equivalentTo"}
xref: UMLS:C1861313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396103"}
is_a: MONDO:0005497 {source="Orphanet:1275", source="https://orcid.org/0000-0001-5208-3432"} ! bone development disease
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9004 {source="MONDO:mim2gene_medgen"} ! PITX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia" xsd:anyURI {source="GARD:0000966"}

[Term]
id: MONDO:0008521
name: tarsal-carpal coalition syndrome
def: "Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges." [Orphanet:1412]
subset: gard_rare {source="GARD:9225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1412"}
subset: ordo_malformation_syndrome {source="Orphanet:1412"}
subset: orphanet_rare {source="Orphanet:1412"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "synostosis of talus and calcaneus with short stature" RELATED [OMIM:186570]
synonym: "tarsal carpal coalition syndrome" RELATED [GARD:0009225]
synonym: "tarsal-carpal coalition syndrome" EXACT [MONDO:Lexical, OMIM:186570]
synonym: "TCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186570]
xref: DOID:0050789 {source="MONDO:equivalentTo"}
xref: GARD:9225 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:1412", source="Orphanet:1412/attributed", source="Orphanet:1412/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:348322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536943 {source="Orphanet:1412", source="Orphanet:1412/e"}
xref: OMIM:186570 {source="MONDO:equivalentTo", source="Orphanet:1412", source="DOID:0050789", source="Orphanet:1412/e"}
xref: Orphanet:1412 {source="MONDO:equivalentTo", source="OMIM:186570"}
xref: SCTID:702312009 {source="MONDO:equivalentTo"}
xref: UMLS:C1861305 {source="MEDGEN:348322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0050789", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:186570", source="Orphanet:1412"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome" xsd:anyURI {source="GARD:0009225"}

[Term]
id: MONDO:0008522
name: synovial chondromatosis, familial, with dwarfism
synonym: "synovial chondromatosis, familial with dwarfism" RELATED [GARD:0007720]
synonym: "synovial chondromatosis, familial, with dwarfism" EXACT [OMIM:186575]
xref: MEDGEN:348836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566087 {source="MONDO:equivalentTo"}
xref: OMIM:186575 {source="MONDO:equivalentTo"}
xref: UMLS:C1861304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348836"}
is_a: MONDO:0003847 {source="MESH:C566087/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7720/synovial-chondromatosis-familial-with-dwarfism" xsd:anyURI {source="GARD:0007720"}

[Term]
id: MONDO:0008523
name: Blau syndrome
def: "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." [Orphanet:90340]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90340"}
subset: orphanet_rare {source="Orphanet:90340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACUG" RELATED ABBREVIATION [GARD:0000304]
synonym: "arthrocutaneouveal granulomatosis" EXACT [DOID:0050678, OMIM:186580]
synonym: "Blau syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:186580]
synonym: "BLAUS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:186580]
synonym: "early-onset sarcoidosis" EXACT [Orphanet:90341]
synonym: "EOS" EXACT ABBREVIATION [OMIM:609464]
synonym: "granulomatosis, familial juvenile systemic" EXACT [OMIM:186580]
synonym: "granulomatosis, familial, Blau type" EXACT [OMIM:186580]
synonym: "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" EXACT [OMIM:186580]
synonym: "Jabs syndrome" EXACT [DOID:0050678, OMIM:186580]
synonym: "paediatric granulomatous arthritis" EXACT OMO:0003005 []
synonym: "pediatric granulomatous arthritis" EXACT DEPRECATED [NCIT:C116794]
synonym: "sarcoidosis, early-onset" EXACT [OMIM:609464]
synonym: "synovitis granulomatous with uveitis and cranial neuropathies" RELATED [GARD:0000304]
synonym: "synovitis, granulomatous, with uveitis and cranial neuropathies" RELATED [OMIM:186580]
xref: DOID:0050678 {source="MONDO:equivalentTo"}
xref: GARD:304 {source="MONDO:GARD"}
xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:714.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071755 {source="Orphanet:90340", source="Orphanet:90340/e"}
xref: MEDGEN:1684759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538157 {source="MONDO:equivalentTo"}
xref: NANDO:1200476 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200434 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116794 {source="DOID:0050678", source="MONDO:equivalentTo"}
xref: OMIM:186580 {source="Orphanet:90340", source="DOID:0050678", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:90340/e"}
xref: OMIM:609464 {source="MONDO:equivalentObsolete"}
xref: Orphanet:90340 {source="OMIM:186580", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:90341 {source="MONDO:equivalentObsolete", source="OMIM:609464"}
xref: SCTID:699861000 {source="DOID:0050678", source="MONDO:equivalentTo"}
xref: UMLS:C5201146 {source="MEDGEN:1684759", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C116794"} ! syndromic disease
is_a: MONDO:0007179 {source="NCIT:C116794"} ! autoimmune disease
is_a: MONDO:0019338 {source="DC-OMIM:609464"} ! sarcoidosis
is_a: MONDO:0019751 ! autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0000426 {source="DOID:0050678", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant disease
relationship: excluded_subClassOf MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C116794", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: excluded_subClassOf MONDO:0018798 {source="Orphanet:90340", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete other genetic dermis disorder
relationship: excluded_subClassOf MONDO:0019295 {source="Orphanet:90340", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete other dermis disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5331 {source="MONDO:mim2gene_medgen"} ! NOD2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/304/blau-syndrome" xsd:anyURI {source="GARD:0000304"}

[Term]
id: MONDO:0008524
name: syringomas, multiple
synonym: "syringomas, multiple" EXACT [OMIM:186600]
xref: MEDGEN:348321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566085 {source="MONDO:equivalentTo"}
xref: OMIM:186600 {source="MONDO:equivalentTo"}
xref: UMLS:C1861302 {source="MEDGEN:348321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008525
name: syringomyelia, isolated
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "syringomyelia, isolated" EXACT [OMIM:186700]
synonym: "syringomyelia, noncommunicating isolated" RELATED [OMIM:186700]
xref: MEDGEN:1622554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566084 {source="MONDO:equivalentTo"}
xref: OMIM:186700 {source="MONDO:equivalentTo"}
xref: Orphanet:3280 {source="OMIM:186700"}
xref: UMLS:C4538540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1622554"}
is_a: MONDO:0020508 ! primary syringomyelia

[Term]
id: MONDO:0008526
name: talonavicular coalition
synonym: "talonavicular coalition" EXACT [OMIM:186750]
xref: MEDGEN:350002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536895 {source="MONDO:equivalentTo"}
xref: OMIM:186750 {source="MONDO:equivalentTo"}
xref: UMLS:C1861296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350002"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10062/talonavicular-coalition" xsd:anyURI {source="GARD:0010062"}

[Term]
id: MONDO:0008527
name: tarsal coalition
synonym: "tarsal coalition" EXACT [OMIM:186850]
synonym: "tarsal fusion" RELATED [OMIM:186850]
xref: ICD9:755.67 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000070604 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: OMIM:186850 {source="MONDO:equivalentTo"}
xref: SCTID:27173008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265654 {source="MEDGEN:539393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008528
name: tear protein, anodal
synonym: "tear protein, anodal" EXACT [OMIM:186890]
xref: MEDGEN:348829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:186890 {source="MONDO:equivalentTo"}
xref: UMLS:C1861283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348829"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008529
name: T-cell Subgroups, non-HLA-linked
synonym: "T-cell Subgroups, non-HLA-linked" EXACT [OMIM:186950]
xref: MEDGEN:348312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:186950 {source="MONDO:equivalentTo"}
xref: UMLS:C1861277 {source="MEDGEN:348312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008530
name: teeth, odd shapes of
synonym: "conical teeth, multiple" RELATED [OMIM:187000]
synonym: "Lobodontia" RELATED [OMIM:187000]
synonym: "teeth, odd shapes of" EXACT [OMIM:187000]
xref: MEDGEN:396097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566076 {source="MONDO:equivalentTo"}
xref: OMIM:187000 {source="MONDO:equivalentTo"}
xref: UMLS:C1861274 {source="MEDGEN:396097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008531
name: obsolete T-complex locus TCP10B
synonym: "T-complex locus TCP10B" EXACT [MONDO:Lexical, OMIM:187030]
synonym: "TCP10B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187030]
xref: OMIM:187030 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0008532
name: teeth present at birth
synonym: "Natal teeth" RELATED [OMIM:187050]
synonym: "teeth present AT birth" RELATED [OMIM:187050]
synonym: "teeth present at birth" EXACT [MONDO:ambiguous]
synonym: "teeth present at birth (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0000695 {source="MONDO:otherHierarchy"}
xref: MEDGEN:10268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:187050 {source="MONDO:equivalentTo"}
xref: SCTID:21995002 {source="MONDO:equivalentTo"}
xref: UMLS:C0027443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10268"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "teeth present at birth (disease)" xsd:string

[Term]
id: MONDO:0008533
name: teeth, supernumerary
def: "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption." [MESH:D014096]
synonym: "teeth, supernumerary" EXACT [OMIM:187100]
xref: ICD10CM:K00.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:21210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014096 {source="MONDO:equivalentTo"}
xref: OMIM:187100 {source="MONDO:equivalentTo"}
xref: SCTID:8666004 {source="MONDO:equivalentTo"}
xref: UMLS:C0040457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21210"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008534
name: generalized essential telangiectasia
subset: gard_rare {source="GARD:21087", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280774"}
subset: orphanet_rare {source="Orphanet:280774"}
subset: rare
synonym: "GET" EXACT ABBREVIATION [Orphanet:280774]
synonym: "Hbt" RELATED [OMIM:187260]
synonym: "telangiectasia, generalised essential" RELATED OMO:0003005 []
synonym: "telangiectasia, generalized essential" RELATED [OMIM:187260]
synonym: "telangiectasia, hereditary benign" RELATED [OMIM:187260]
xref: GARD:21087 {source="MONDO:GARD"}
xref: icd11.foundation:236046211 {source="MONDO:equivalentTo", source="Orphanet:280774", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:140803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:187260 {source="MONDO:equivalentTo"}
xref: Orphanet:280774 {source="MONDO:equivalentTo"}
xref: SCTID:238763007 {source="MONDO:equivalentTo"}
xref: UMLS:C0406502 {source="MEDGEN:140803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019293 {source="Orphanet:280774"} ! skin vascular disease

[Term]
id: MONDO:0008535
name: telangiectasia, hereditary hemorrhagic, type 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ENG-related Hereditary hemorrhagic telangiectasia" RELATED [GTR:AN0195329]
synonym: "hereditary hemorrhagic telangiectasia type 1" EXACT [GTR:AN0097748]
synonym: "HHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187300]
synonym: "HHT1" EXACT ABBREVIATION [GTR:AN0097750, OMIM:187300]
synonym: "ORW disease" RELATED [OMIM:187300]
synonym: "Osler Weber Rendu syndrome type 1" RELATED [GTR:AN0097757]
synonym: "Osler-Rendu-Weber disease" RELATED [OMIM:187300]
synonym: "telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER" RELATED [OMIM:187300]
synonym: "telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber" EXACT [MONDO:Lexical, OMIM:187300]
synonym: "telangiectasia, hereditary hemorrhagic, type 1" EXACT CLINGEN_LABEL [OMIM:187300]
xref: GTR:AN0097748
xref: GTR:AN0097750
xref: GTR:AN0097757
xref: GTR:AN0195329
xref: MEDGEN:1643786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:187300 {source="MONDO:equivalentTo"}
xref: Orphanet:774 {source="OMIM:187300"}
xref: UMLS:C4551861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643786"}
is_a: MONDO:0019180 {source="DC-OMIM:187300", source="OMIM:187300"} ! hereditary hemorrhagic telangiectasia
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:187300"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3349 {source="MONDO:mim2gene_medgen"} ! ENG

[Term]
id: MONDO:0008536
name: temperature-sensitive lethal mutation
synonym: "temperature-sensitive lethal mutation" EXACT [OMIM:187340]
xref: MEDGEN:396088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:187340 {source="MONDO:equivalentTo"}
xref: UMLS:C1861242 {source="MEDGEN:396088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008537
name: telecanthus
subset: disease_grouping
subset: gard_rare {source="GARD:19505", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98575"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "telecanthus" EXACT [OMIM:187350]
xref: GARD:19505 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:98575", source="Orphanet:98575/attributed", source="Orphanet:98575/ntbt"}
xref: MEDGEN:140836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562941 {source="MONDO:equivalentTo"}
xref: OMIM:187350 {source="MONDO:equivalentTo"}
xref: Orphanet:98575 {source="MONDO:equivalentTo"}
xref: UMLS:C0423113 {source="MEDGEN:140836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003382 {source="https://orcid.org/0000-0001-5208-3432"} ! eyelid disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0008538
name: temporal arteritis
def: "A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." [https://orcid.org/0000-0001-5208-3432, Orphanet:397]
subset: gard_rare {source="GARD:9615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:805"}
subset: ordo_disorder {source="Orphanet:397"}
subset: orphanet_rare {source="Orphanet:397"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arteritis cranialis" RELATED [GARD:0009615]
synonym: "arteritis temporalis" RELATED [GARD:0009615]
synonym: "cranial arteritis" RELATED [OMIM:187360]
synonym: "GCA" RELATED ABBREVIATION [GARD:0009615]
synonym: "Giant Cell Arteritis" EXACT [NORD:805]
synonym: "giant cell arteritis" EXACT [DOID:13375, ICD9CM:446.5, NCIT:C35065, OMIM:187360]
synonym: "Horton disease" EXACT [Orphanet:397]
synonym: "Horton's arteritis" RELATED [GARD:0009615]
synonym: "Horton's disease" EXACT [DOID:13375]
synonym: "Horton's giant cell arteritis" RELATED [GARD:0009615]
synonym: "Horton's temporal arteritis" RELATED [GARD:0009615]
synonym: "Horton’s disease" RELATED [GARD:0009615]
synonym: "Horton’s syndrome" RELATED [GARD:0009615]
synonym: "inflammation of temporal artery" EXACT []
synonym: "polymyalgia rheumatica" RELATED [OMIM:187360]
synonym: "temporal arteritis" EXACT [OMIM:187360, Orphanet:397]
synonym: "temporal artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:13375 {source="MONDO:equivalentTo", source="EFO:1001209"}
xref: EFO:1001209 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9615 {source="MONDO:GARD"}
xref: ICD10CM:M31.6 {source="Orphanet:397/ntbt", source="Orphanet:397", source="EFO:1001209"}
xref: icd11.foundation:1929970386 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:397"}
xref: ICD9:446.5 {source="DOID:13375"}
xref: MedDRA:10018250 {source="Orphanet:397/e", source="Orphanet:397"}
xref: MedDRA:10043207 {source="Orphanet:397/e", source="Orphanet:397", source="EFO:1001209"}
xref: MEDGEN:365495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013700 {source="Orphanet:397/e", source="DOID:13375", source="Orphanet:397", source="EFO:1001209"}
xref: NANDO:1200258 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200259 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200260 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35065 {source="MONDO:equivalentTo", source="DOID:13375", source="EFO:1001209"}
xref: NORD:805 {source="MONDO:NORD"}
xref: OMIM:187360 {source="Orphanet:397/e", source="MONDO:equivalentTo", source="DOID:13375", source="Orphanet:397", source="EFO:1001209"}
xref: Orphanet:397 {source="OMIM:187360", source="MONDO:equivalentTo"}
xref: SCTID:155442004 {source="DOID:13375"}
xref: SCTID:195354005 {source="DOID:13375"}
xref: SCTID:195355006 {source="DOID:13375"}
xref: SCTID:195356007 {source="DOID:13375"}
xref: SCTID:195357003 {source="DOID:13375"}
xref: SCTID:400130008 {source="MONDO:equivalentTo", source="DOID:13375", source="EFO:1001209"}
xref: SCTID:414341000 {source="DOID:13375"}
xref: SCTID:87511001 {source="DOID:13375"}
xref: UMLS:C1956391 {source="MEDGEN:365495", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002341 {source="NCIT:C35065"} ! granulomatous angiitis
is_a: MONDO:0003346 {source="DOID:13375"} ! central nervous system vasculitis
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001632 ! temporal artery
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:397", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0008539
name: obsolete distal arthrogryposis type 10
is_obsolete: true
replaced_by: MONDO:0016675

[Term]
id: MONDO:0008540
name: extensor tendons of finger anomalies
subset: gard_rare {source="GARD:2597", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3294"}
subset: ordo_malformation_syndrome {source="Orphanet:3294"}
subset: orphanet_rare {source="Orphanet:3294"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anomalous insertion of extensor tendons of fingers" RELATED [GARD:0002597]
synonym: "Hapnes Boman Skeie syndrome" RELATED [GARD:0002597]
synonym: "Hapnes-Boman-Skeie syndrome" EXACT [Orphanet:3294]
synonym: "tendons, extensor, of fingers, anomalous insertion OF" RELATED [OMIM:187390]
xref: GARD:2597 {source="MONDO:GARD"}
xref: MEDGEN:348302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566068 {source="MONDO:equivalentTo"}
xref: OMIM:187390 {source="Orphanet:3294/e", source="MONDO:equivalentTo", source="Orphanet:3294"}
xref: Orphanet:3294 {source="OMIM:187390", source="MONDO:equivalentTo"}
xref: UMLS:C1861237 {source="MEDGEN:348302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0021147 {source="Orphanet:3294", source="Orphanet:3294/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008541
name: spermatic cord torsion
def: "An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue." [NCIT:P378]
synonym: "testicular torsion" EXACT [DOID:11996, NCIT:C26885, OMIM:187400]
synonym: "torsion of testicle" EXACT [DOID:11996]
synonym: "torsion of testicular cord" RELATED [OMIM:187400]
synonym: "torsion of testis" EXACT [DOID:11996, ICD9CM:608.2]
xref: DOID:11996 {source="MONDO:equivalentTo"}
xref: ICD10CM:N44.0 {source="DOID:11996"}
xref: ICD10CM:N44.00 {source="DOID:11996"}
xref: ICD10CM:N44.02 {source="DOID:11996"}
xref: ICD9:608.2 {source="DOID:11996", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:608.20 {source="DOID:11996", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:52446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013086 {source="DOID:11996", source="MONDO:equivalentTo"}
xref: NCIT:C26885 {source="DOID:11996", source="MONDO:equivalentTo"}
xref: OMIM:187400 {source="DOID:11996", source="MONDO:equivalentTo"}
xref: SCTID:155937003 {source="DOID:11996"}
xref: SCTID:198045001 {source="DOID:11996"}
xref: SCTID:198046000 {source="DOID:11996"}
xref: SCTID:198048004 {source="DOID:11996"}
xref: SCTID:49198006 {source="DOID:11996"}
xref: SCTID:81996005 {source="DOID:11996", source="MONDO:equivalentTo"}
xref: UMLS:C0037856 {source="MEDGEN:52446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002329 {source="DOID:11996", source="NCIT:C26885/inferred"} ! testicular disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008542
name: tetralogy of fallot
def: "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." [Orphanet:3303]
subset: gard_rare {source="GARD:2245", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1764"}
subset: ordo_disorder {source="Orphanet:3303"}
subset: ordo_malformation_syndrome {source="Orphanet:3303"}
subset: orphanet_rare {source="Orphanet:3303"}
subset: rare
synonym: "Fallot tetralogy" RELATED [GARD:0002245]
synonym: "tetralogy of FALLOT" RELATED [OMIM:187500]
synonym: "tetralogy of fallot" EXACT [MONDO:Lexical, OMIM:187500]
synonym: "TOF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187500]
synonym: "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [DOID:6419]
xref: DOID:6419 {source="MONDO:equivalentTo"}
xref: GARD:2245 {source="MONDO:GARD"}
xref: ICD10CM:Q21.3 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"}
xref: icd11.foundation:90973426 {source="Orphanet:3303", source="MONDO:equivalentTo"}
xref: ICD9:745.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6419"}
xref: MedDRA:10016193 {source="Orphanet:3303", source="Orphanet:3303/e"}
xref: MEDGEN:21498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013771 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"}
xref: NANDO:1200709 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100075 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200254 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84505 {source="MONDO:equivalentTo", source="DOID:6419"}
xref: NORD:1764 {source="MONDO:NORD"}
xref: OMIM:187500 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"}
xref: Orphanet:3303 {source="MONDO:equivalentTo", source="OMIM:187500"}
xref: SCTID:156913009 {source="DOID:6419"}
xref: SCTID:204305006 {source="DOID:6419"}
xref: SCTID:204307003 {source="DOID:6419"}
xref: SCTID:268177006 {source="DOID:6419"}
xref: SCTID:86299006 {source="MONDO:equivalentTo", source="DOID:6419"}
xref: UMLS:C0039685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21498"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005453 {source="DOID:6419", source="MESH:D013771", source="NCIT:C84505"} ! congenital heart disease
is_a: MONDO:0016581 {source="Orphanet:3303"} ! conotruncal heart malformations
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot" xsd:anyURI {source="GARD:0002245"}

[Term]
id: MONDO:0008543
name: tetralogy of fallot and glaucoma
synonym: "familial tetralogy of fallot and glaucoma" RELATED [GARD:0010107]
synonym: "tetralogy of fallot and glaucoma" EXACT [OMIM:187501]
xref: MEDGEN:396086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536501 {source="MONDO:equivalentTo"}
xref: OMIM:187501 {source="MONDO:equivalentTo"}
xref: UMLS:C1861234 {source="MEDGEN:396086", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10107/tetralogy-of-fallot-and-glaucoma" xsd:anyURI {source="GARD:0010107"}

[Term]
id: MONDO:0008544
name: tetramelic monodactyly
def: "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." [Orphanet:2564]
subset: gard_rare {source="GARD:3707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2564"}
subset: ordo_malformation_syndrome {source="Orphanet:2564"}
subset: orphanet_rare {source="Orphanet:2564"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sommer Hines syndrome" RELATED [GARD:0003707]
synonym: "Sommer-Hines syndrome" EXACT [Orphanet:2564]
synonym: "tetramelic monodactyly" EXACT [OMIM:187510]
synonym: "tetramelic monodactyly with autosomal dominant inheritance" RELATED [GARD:0003707]
xref: GARD:3707 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:2564", source="Orphanet:2564/attributed", source="Orphanet:2564/ntbt"}
xref: MEDGEN:349989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566066 {source="MONDO:equivalentTo"}
xref: OMIM:187510 {source="Orphanet:2564", source="MONDO:equivalentTo", source="Orphanet:2564/e"}
xref: Orphanet:2564 {source="MONDO:equivalentTo", source="OMIM:187510"}
xref: UMLS:C1861233 {source="MEDGEN:349989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly" xsd:anyURI {source="GARD:0003707"}

[Term]
id: MONDO:0008545
name: thalassemia, beta+, silent allele
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "thalassemia, beta+, silent allele" EXACT [OMIM:187550]
xref: MEDGEN:349988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566065 {source="MONDO:equivalentTo"}
xref: OMIM:187550 {source="MONDO:equivalentTo"}
xref: UMLS:C1861232 {source="MONDO:equivalentTo", source="MEDGEN:349988", source="MONDO:MEDGEN"}
is_a: MONDO:0019402 {source="DC-OMIM:187550", source="MESH:C566065"} ! beta thalassemia

[Term]
id: MONDO:0008546
name: thanatophoric dysplasia type 1
def: "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." [Orphanet:1860]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1860"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lethal short-limbed Platyspondylic dwarfism, San Diego type" RELATED [OMIM:187600]
synonym: "Platyspondylic lethal skeletal dysplasia, San Diego type" RELATED [OMIM:187600]
synonym: "PLSD San Diego type" RELATED [GARD:0004889]
synonym: "TD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:187600, Orphanet:1860]
synonym: "thanatophoric dwarfism" RELATED [OMIM:187600]
synonym: "thanatophoric dwarfism 1" RELATED [GARD:0009295]
synonym: "thanatophoric dwarfism type 1" EXACT [Orphanet:1860]
synonym: "thanatophoric dysplasia" RELATED [OMIM:187600]
synonym: "thanatophoric dysplasia type I" RELATED [GARD:0009295]
synonym: "thanatophoric dysplasia, type 1" EXACT [NCIT:C98583]
synonym: "thanatophoric dysplasia, type I" RELATED [MONDO:Lexical, OMIM:187600]
synonym: "type 1 thanatophoric dysplasia" EXACT [NCIT:C98583]
xref: GARD:9295 {source="MONDO:GARD"}
xref: ICD10CM:Q77.1 {source="Orphanet:1860", source="Orphanet:1860/attributed", source="Orphanet:1860/ntbt"}
xref: MEDGEN:358383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200875 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98583 {source="MONDO:equivalentTo"}
xref: OMIM:187600 {source="Orphanet:1860", source="MONDO:equivalentTo", source="Orphanet:1860/e"}
xref: OMIM:270230 {source="MONDO:equivalentObsolete", source="GARD:0004889"}
xref: Orphanet:1860 {source="MONDO:equivalentTo", source="OMIM:187600"}
xref: Orphanet:2655 {source="OMIM:187600"}
xref: UMLS:C1868678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358383"}
is_a: MONDO:0017042 {source="DC-OMIM:187600", source="NCIT:C98583", source="Orphanet:1860"} ! thanatophoric dysplasia
is_a: MONDO:0019685 {source="PMID:31633310"} ! FGFR3-related chondrodysplasia
relationship: excluded_subClassOf MONDO:0014658 {source="https://orcid.org/0000-0001-5208-3432"} ! severe achondroplasia-developmental delay-acanthosis nigricans syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:187600", source="Orphanet:1860"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008547
name: thanatophoric dysplasia type 2
def: "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." []
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1402", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cloverleaf skull with thanatophoric dwarfism" RELATED [OMIM:187601]
synonym: "cloverleaf skull-micromelic bone dysplasia syndrome" EXACT [Orphanet:93274]
synonym: "TD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:187601, Orphanet:93274]
synonym: "thanatophoric dwarfism - cloverleaf skull" RELATED [GARD:0001402]
synonym: "thanatophoric dwarfism type 2" EXACT [Orphanet:93274]
synonym: "thanatophoric dwarfism-cloverleaf skull syndrome" EXACT [Orphanet:93274]
synonym: "thanatophoric dysplasia type II" RELATED [GARD:0001402]
synonym: "thanatophoric dysplasia with Kleeblattschaedel" RELATED [OMIM:187601]
synonym: "thanatophoric dysplasia with straight femurs and cloverleaf skull" RELATED [OMIM:187601]
synonym: "thanatophoric dysplasia, type 2" EXACT [NCIT:C98584]
synonym: "thanatophoric dysplasia, type II" RELATED [MONDO:Lexical, OMIM:187601]
synonym: "type 2 thanatophoric dysplasia" EXACT [NCIT:C98584]
xref: GARD:1402 {source="MONDO:GARD"}
xref: ICD10CM:Q77.1 {source="Orphanet:93274", source="Orphanet:93274/attributed", source="Orphanet:93274/ntbt"}
xref: ICD9:742.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536508 {source="MONDO:equivalentTo"}
xref: NANDO:1200876 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98584 {source="MONDO:equivalentTo"}
xref: OMIM:187601 {source="Orphanet:93274", source="MONDO:equivalentTo", source="Orphanet:93274/e"}
xref: Orphanet:2655 {source="OMIM:187601"}
xref: Orphanet:93274 {source="MONDO:equivalentTo", source="OMIM:187601"}
xref: SCTID:389158007 {source="MONDO:equivalentTo"}
xref: UMLS:C1300257 {source="MONDO:equivalentTo", source="MEDGEN:226975", source="MONDO:MEDGEN"}
is_a: MONDO:0017042 {source="DC-OMIM:187601", source="MESH:C536508", source="NCIT:C98584", source="Orphanet:93274"} ! thanatophoric dysplasia
is_a: MONDO:0019685 {source="PMID:31633310"} ! FGFR3-related chondrodysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2" xsd:anyURI {source="GARD:0001402"}

[Term]
id: MONDO:0008548
name: obsolete theophylline Biotransformation
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "theophylline Biotransformation" EXACT [OMIM:187650]
xref: OMIM:187650 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008549
name: thoracic dysostosis, isolated
synonym: "thoracic dysostosis, isolated" EXACT [OMIM:187750]
xref: MEDGEN:396080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566063 {source="MONDO:equivalentTo"}
xref: OMIM:187750 {source="MONDO:equivalentTo"}
xref: UMLS:C1861204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396080"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008550
name: obsolete thoracolaryngopelvic dysplasia
is_obsolete: true
replaced_by: MONDO:0008551

[Term]
id: MONDO:0008551
name: thoracolaryngopelvic dysplasia
def: "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." [Orphanet:3317]
subset: gard_rare {source="GARD:5184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3317"}
subset: ordo_malformation_syndrome {source="Orphanet:3317"}
subset: orphanet_rare {source="Orphanet:3317"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant thoracolaryngopelvic dysplasia" RELATED [GARD:0005184]
synonym: "Barnes syndrome" EXACT [OMIM:187760, Orphanet:3317]
synonym: "thoracolaryngopelvic dysplasia" EXACT [MONDO:Lexical, OMIM:187760]
synonym: "thoracopelvic dysostosis" EXACT [OMIM:187770]
synonym: "TLPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187760]
xref: GARD:5184 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:3317", source="Orphanet:3317/attributed", source="Orphanet:3317/ntbt"}
xref: MEDGEN:349978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536517 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"}
xref: OMIM:187760 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:3317", source="Orphanet:3317/btnt"}
xref: OMIM:187770 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"}
xref: Orphanet:3317 {source="MONDO:equivalentTo", source="OMIM:187770", source="OMIM:187760"}
xref: SCTID:723556008 {source="MONDO:equivalentTo"}
xref: UMLS:C1861197 {source="MEDGEN:349978", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="MONDO:Entailed", source="Orphanet:3317", source="Orphanet:3317/inferred"} ! respiratory system disorder
is_a: MONDO:0015929 {source="Orphanet:3317"} ! thoracic malformation
is_a: MONDO:0019691 {source="Orphanet:3317", source="PMID:31633310"} ! short rib dysplasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008552
name: platelet-type bleeding disorder 16
def: "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32." [DOID:0060691, PMID:18065693, PMID:21454453, PMID:9834222]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Glanzmann thrombasthenia" EXACT [DOID:0060691]
synonym: "autosomal dominant thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:0060691]
synonym: "BDPLT16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187800]
synonym: "bleeding disorder, platelet-type, 16" RELATED [MONDO:Lexical, OMIM:187800]
synonym: "bleeding disorder, platelet-type, 16, autosomal dominant" EXACT [OMIM:187800, OMIM:genemap2]
synonym: "Glanzmann thrombasthenia, autosomal dominant" RELATED [OMIM:187800]
synonym: "platelet-type bleeding disorder 16" EXACT CLINGEN_LABEL []
synonym: "thrombasthenia of Glanzmann and Naegeli, autosomal dominant" RELATED [OMIM:187800]
xref: DOID:0060691 {source="MONDO:equivalentTo"}
xref: ICD10CM:D69.4 {source="DOID:0060691"}
xref: MEDGEN:1781222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566061 {source="MONDO:equivalentTo"}
xref: OMIM:187800 {source="MONDO:equivalentTo", source="DOID:0060691"}
xref: Orphanet:140957 {source="MONDO:relatedTo", source="DOID:0060691", source="OMIM:187800"}
xref: UMLS:C5442010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781222"}
is_a: MONDO:0000009 {source="DC-OMIM:187800", source="OMIM:187800"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0001531 {source="DOID:0060691", source="MONDO:Redundant", source="MONDO:indirect"} ! blood coagulation disease
is_a: MONDO:0003847 {source="MESH:C566061/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0021181 {source="DOID:0060691", source="MESH:C566061/inferred", source="MONDO:Redundant"} ! inherited blood coagulation disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020116"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008553
name: platelet-type bleeding disorder 17
def: "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." [NCIT:C142084]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15117", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT17" EXACT ABBREVIATION [DOID:0111049, MONDO:Lexical, OMIM:187900]
synonym: "bleeding disorder, platelet-type 17" EXACT [NCIT:C142084]
synonym: "bleeding disorder, platelet-type, 17" RELATED [MONDO:Lexical, OMIM:187900]
synonym: "GFI1B inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT [DOID:0111049]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in GFI1B" EXACT [MONDO:design_pattern]
synonym: "platelet-type bleeding disorder 17" EXACT CLINGEN_LABEL []
synonym: "thrombasthenia-thrombocytopenia, hereditary" RELATED [OMIM:187900]
xref: DOID:0111049 {source="MONDO:equivalentTo"}
xref: GARD:15117 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="DOID:0111049"}
xref: MEDGEN:396078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566060 {source="MONDO:equivalentTo"}
xref: MESH:D055652 {source="DOID:0111049"}
xref: NCIT:C142084 {source="MONDO:equivalentTo"}
xref: OMIM:187900 {source="MONDO:equivalentTo", source="DOID:0111049"}
xref: Orphanet:721 {source="OMIM:187900"}
xref: UMLS:C1861194 {source="MONDO:equivalentTo", source="MEDGEN:396078", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="MONDO:Redundant", source="OMIM:187900"} ! inherited bleeding disorder, platelet-type
intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4238 ! GFI1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4238 {source="MONDO:mim2gene_medgen"} ! GFI1B

[Term]
id: MONDO:0008554
name: thrombocythemia 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "THCYT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187950]
synonym: "thrombocythemia 1" EXACT [MONDO:Lexical, OMIM:187950]
synonym: "thrombocythemia type 1" EXACT [MONDORULE:1, OMIM:187950]
synonym: "thrombocythemia, somatic" EXACT [OMIM:187950, OMIM:genemap2]
synonym: "thrombocytosis 1" RELATED [OMIM:187950]
xref: MEDGEN:479301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:187950 {source="MONDO:equivalentTo"}
xref: Orphanet:3318 {source="OMIM:187950"}
xref: Orphanet:71493 {source="OMIM:187950", source="MONDO:directSiblingOf"}
xref: UMLS:C3277671 {source="MEDGEN:479301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002249 {source="DC-OMIM:187950"} ! thrombocytosis disease
is_a: MONDO:0019111 {source="OMIMPS:187950"} ! familial thrombocytosis
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: excluded_subClassOf MONDO:0005029 {source="https://orcid.org/0000-0001-5208-3432"} ! essential thrombocythemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008555
name: thrombocytopenia 2
def: "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." [NCIT:C129035]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "THC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188000]
synonym: "thrombocytopenia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:188000]
synonym: "thrombocytopenia autosomal dominant 2" RELATED [GARD:0005191]
synonym: "thrombocytopenia type 2" EXACT [MONDORULE:1, OMIM:188000]
synonym: "thrombocytopenia, autosomal dominant, 2" RELATED [OMIM:188000]
xref: GARD:5191 {source="MONDO:GARD"}
xref: MEDGEN:349976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536519 {source="MONDO:equivalentTo"}
xref: NANDO:2200663 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129035 {source="MONDO:equivalentTo"}
xref: OMIM:188000 {source="MONDO:equivalentTo"}
xref: Orphanet:168629 {source="OMIM:188000"}
xref: Orphanet:268322 {source="OMIM:188000"}
xref: UMLS:C1861185 {source="MEDGEN:349976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100241 {source="DC-OMIM:188000", source="MESH:C536519", source="MONDO:Redundant", source="OMIM:188000"} ! inherited thrombocytopenia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2" xsd:anyURI {source="GARD:0005191"}

[Term]
id: MONDO:0008556
name: thrombocytopenia, cyclic
subset: gard_rare {source="GARD:9862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cyclic thrombocytopenia" RELATED [GARD:0009862]
synonym: "thrombocytopenia cyclic" RELATED [GARD:0009862]
synonym: "thrombocytopenia, cyclic" EXACT [OMIM:188020]
xref: GARD:9862 {source="MONDO:GARD"}
xref: ICD9:287.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536899 {source="MONDO:equivalentTo"}
xref: NANDO:2100192 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200653 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:188020 {source="MONDO:equivalentTo"}
xref: SCTID:48788004 {source="MONDO:equivalentTo"}
xref: UMLS:C0272282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78799"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100241 {source="DC-OMIM:188020", source="MESH:C536899"} ! inherited thrombocytopenia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia" xsd:anyURI {source="GARD:0009862"}

[Term]
id: MONDO:0008557
name: Paris-Trousseau thrombocytopenia
def: "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." [Orphanet:851]
subset: gard_rare {source="GARD:4224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:851"}
subset: orphanet_rare {source="Orphanet:851"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 11q23 deletion syndrome" RELATED [OMIM:188025]
synonym: "Paris-Trousseau syndrome" RELATED [GARD:0004224]
synonym: "TCPT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188025]
synonym: "thrombocytopenia Paris-Trousseau type" RELATED [GARD:0004224]
synonym: "thrombocytopenia, Paris-TROUSSEAU type" RELATED [MONDO:Lexical, OMIM:188025]
synonym: "thrombocytopenia, Paris-Trousseau type, Isolated cases" EXACT [OMIM:188025, OMIM:genemap2]
xref: GARD:4224 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="Orphanet:851", source="Orphanet:851/attributed", source="Orphanet:851/ntbt"}
xref: MEDGEN:365037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538617 {source="Orphanet:851", source="Orphanet:851/e"}
xref: OMIM:188025 {source="Orphanet:851", source="MONDO:equivalentTo", source="Orphanet:851/e"}
xref: Orphanet:851 {source="MONDO:equivalentTo", source="OMIM:188025"}
xref: UMLS:C1956093 {source="MEDGEN:365037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016910 {source="Orphanet:851"} ! partial deletion of the long arm of chromosome 11
is_a: MONDO:0020117 {source="Orphanet:851"} ! alpha granule disease
is_a: MONDO:0100241 {source="DC-OMIM:188025", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia" xsd:anyURI {source="GARD:0004224"}

[Term]
id: MONDO:0008558
name: autoimmune thrombocytopenic purpura
def: "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." [NCIT:P378]
subset: gard_rare {source="GARD:5194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3002"}
subset: orphanet_rare {source="Orphanet:3002"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AITP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188030]
synonym: "autoimmune thrombocytopenic purpura" EXACT [DOID:8924]
synonym: "ideopath thrombocytopenic pur" RELATED [DOID:8924]
synonym: "idiopathic purpura" RELATED [DOID:8924]
synonym: "idiopathic thrombocytopenia" EXACT [NCIT:C3446]
synonym: "idiopathic thrombocytopenia purpura" EXACT [NCIT:C3446]
synonym: "idiopathic thrombocytopenic purpura" EXACT [DOID:8924, OMIM:188030]
synonym: "immune thrombocytopenia" EXACT [Orphanet:3002]
synonym: "immune thrombocytopenic purpura" RELATED [OMIM:188030]
synonym: "ITP" EXACT ABBREVIATION [Orphanet:3002]
synonym: "primary thrombocytopenic purpura" EXACT [DOID:8924]
synonym: "thrombocytopenic purpura autoimmune" RELATED [GARD:0005194]
synonym: "thrombocytopenic purpura, autoimmune" EXACT [MONDO:Lexical, OMIM:188030, Orphanet:3002]
synonym: "Werlhof's disease" RELATED [DOID:8924]
xref: DOID:8924 {source="EFO:0007160", source="MONDO:equivalentTo"}
xref: EFO:0007160 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5194 {source="MONDO:GARD"}
xref: ICD10CM:D69.3 {source="Orphanet:3002", source="Orphanet:3002/ntbt", source="DOID:8924"}
xref: icd11.foundation:364346400 {source="Orphanet:3002", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:287.31 {source="DOID:8924"}
xref: MedDRA:10021245 {source="Orphanet:3002", source="Orphanet:3002/e"}
xref: MEDGEN:584986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016553 {source="Orphanet:3002", source="EFO:0007160", source="Orphanet:3002/e", source="DOID:8924"}
xref: NANDO:1200315 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200645 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3446 {source="MONDO:equivalentTo", source="DOID:8924"}
xref: OMIM:188030 {source="Orphanet:3002", source="MONDO:equivalentTo", source="Orphanet:3002/e", source="DOID:8924"}
xref: Orphanet:3002 {source="OMIM:188030", source="MONDO:equivalentTo"}
xref: SCTID:13172003 {source="DOID:8924"}
xref: SCTID:154825008 {source="DOID:8924"}
xref: SCTID:191315003 {source="DOID:8924"}
xref: SCTID:191316002 {source="DOID:8924"}
xref: SCTID:234490009 {source="DOID:8924"}
xref: SCTID:267567001 {source="DOID:8924"}
xref: SCTID:32273002 {source="DOID:8924"}
xref: UMLS:C0398650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:584986"}
is_a: MONDO:0004680 {source="DOID:8924"} ! primary thrombocytopenia
is_a: MONDO:0019098 {source="MONDO:Redundant", source="Orphanet:3002"} ! autoimmune thrombocytopenia
is_a: MONDO:0043768 {source="NCIT:C3446"} ! thrombocytopenic purpura
relationship: disease_has_location CL:0000233 {source="EFO:0000784"} ! platelet
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15626 {source="MONDO:mim2gene_medgen"} ! FCGR2C

[Term]
id: MONDO:0008559
name: thrombophilia due to thrombin defect
def: "The formation of a blood clot (thrombus) in the lumen of a vein." [NCIT:C99107]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "factor II-related thrombophilia" RELATED [GARD:0010815]
synonym: "hyperprothrombinemia" RELATED [GARD:0010815]
synonym: "prothrombin 20210G>A thrombophilia" RELATED [GARD:0010815]
synonym: "prothrombin G20210A thrombophilia" RELATED [GARD:0010815]
synonym: "prothrombin thrombophilia" EXACT [GARD:0010815]
synonym: "prothrombin-related thrombophilia" EXACT [GARD:0010815]
synonym: "THPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188050]
synonym: "thromboembolism, susceptibility to" RELATED [OMIM:188050, OMIM:genemap2]
synonym: "thrombophilia 1 due to thrombin defect" EXACT [OMIM:188050, OMIM:genemap2]
synonym: "thrombophilia due to factor 2 defect" RELATED [OMIM:188050]
synonym: "thrombophilia due to thrombin defect" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:188050]
synonym: "thrombosis, protection against" RELATED [OMIM:188050]
synonym: "Venous thromboembolism" BROAD [OMIM:188050]
synonym: "venous thromboembolism, susceptibility to" EXACT [OMIM:188050, OMIM:genemap2]
synonym: "venous thrombosis" RELATED [OMIM:188050]
synonym: "venous thrombosis, protection against" EXACT [OMIM:188050, OMIM:genemap2]
xref: DOID:0080701 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0111907 {source="MONDO:equivalentTo"}
xref: GARD:10815 {source="MONDO:GARD"}
xref: ICD9:453.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:463623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:188050 {source="MONDO:equivalentTo"}
xref: SCTID:111293003 {source="MONDO:equivalentTo"}
xref: UMLS:C3160733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463623"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0100240 {source="DC-OMIM:188050", source="OMIM:188050"} ! inherited thrombophilia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008560
name: thrombophilia due to activated protein C resistance
def: "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." [MESH:D020016]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Activated Protein C resistance" RELATED [OMIM:188055]
synonym: "APC resistance" RELATED [MESH:D020016, OMIM:188055]
synonym: "Pccf deficiency" RELATED [OMIM:188055]
synonym: "Proc cofactor deficiency" RELATED [OMIM:188055]
synonym: "resistance, APC" RELATED [MESH:D020016]
synonym: "THPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188055]
synonym: "thrombophilia 2 due to activated protein C resistance" EXACT [OMIM:188055, OMIM:genemap2]
synonym: "thrombophilia 5" RELATED [OMIM:188055]
synonym: "thrombophilia due to ACTIVATED PROTEIN C resistance" RELATED [OMIM:188055]
synonym: "thrombophilia due to activated protein C resistance" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:188055]
synonym: "thrombophilia due to deficiency of Activated Protein C cofactor" RELATED [OMIM:188055]
synonym: "thrombophilia due to Factor 5 Leiden" RELATED [OMIM:188055]
synonym: "thrombophilia, susceptibility to, due to factor V Leiden" RELATED [OMIM:188055, OMIM:genemap2]
xref: DOID:0111902 {source="MONDO:equivalentTo"}
xref: ICD9:289.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:396074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020016 {source="MONDO:equivalentTo"}
xref: OMIM:188055 {source="MONDO:equivalentTo"}
xref: SCTID:421527008 {source="MONDO:equivalentTo"}
xref: UMLS:C1861171 {source="MEDGEN:396074", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MESH:D020016"} ! coagulation protein disease
is_a: MONDO:0003847 {source="MESH:D020016/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0021181 {source="MESH:D020016", source="MONDO:Redundant"} ! inherited blood coagulation disorder
is_a: MONDO:0100240 {source="DC-OMIM:188055", source="MESH:D020016", source="OMIM:188055"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3542 {source="MONDO:mim2gene_medgen"} ! F5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008561
name: thumb deformity
synonym: "thumb absent or hypoplastic" RELATED [GARD:0008482]
synonym: "thumb deformity" EXACT [MONDO:ambiguous, OMIM:188100]
synonym: "thumb deformity (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "thumb hypoplastic" RELATED [GARD:0008482]
xref: HP:0001172 {source="MONDO:otherHierarchy"}
xref: MEDGEN:107901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536903 {source="MONDO:equivalentTo"}
xref: OMIM:188100 {source="MONDO:equivalentTo"}
xref: UMLS:C0575897 {source="MEDGEN:107901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "thumb deformity (disease)" xsd:string

[Term]
id: MONDO:0008562
name: thumb deformity-alopecia-pigmentation anomaly syndrome
def: "A rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988." [Orphanet:2251]
subset: gard_rare {source="GARD:5199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2251"}
subset: ordo_malformation_syndrome {source="Orphanet:2251"}
subset: orphanet_rare {source="Orphanet:2251"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital deformity of the thumb and congenital alopecia" RELATED [GARD:0005199]
synonym: "hypotrichosis associated with congenital hypoplasia of the thumb" RELATED [GARD:0005199]
synonym: "sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation" RELATED [GARD:0005199]
synonym: "thumb deformity and alopecia" EXACT [OMIM:188150]
synonym: "thumb deformity, alopecia, pigmentation anomaly" RELATED [GARD:0005199]
xref: GARD:5199 {source="MONDO:GARD"}
xref: MEDGEN:348284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536904 {source="Orphanet:2251/e", source="Orphanet:2251"}
xref: MESH:C566054 {source="MONDO:equivalentTo"}
xref: OMIM:188150 {source="Orphanet:2251/e", source="MONDO:equivalentTo", source="Orphanet:2251"}
xref: Orphanet:2251 {source="OMIM:188150", source="MONDO:equivalentTo"}
xref: Orphanet:79132 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1861168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348284"}
is_a: MONDO:0021147 {source="Orphanet:2251", source="Orphanet:2251/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0019054 {source="MONDO:0015226-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0019287 {source="Orphanet:79132", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7150" xsd:anyURI

[Term]
id: MONDO:0008563
name: thumb stiffness-brachydactyly-intellectual disability syndrome
def: "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." [Orphanet:1078]
subset: gard_rare {source="GARD:4375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1078"}
subset: ordo_malformation_syndrome {source="Orphanet:1078"}
subset: orphanet_rare {source="Orphanet:1078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Piussan-Lenaerts-Mathieu syndrome" EXACT [Orphanet:1078]
synonym: "Thumb ankylosis with intellectual disability" RELATED [GARD:0004375]
synonym: "Thumb ankylosis with mental retardation" RELATED DEPRECATED [GARD:0004375]
synonym: "thumb stiff brachydactyly intellectual disability" RELATED [GARD:0005200]
synonym: "thumb stiff brachydactyly mental retardation" RELATED DEPRECATED [GARD:0005200]
synonym: "thumbs, STIFF, with brachydactyly type A1 and developmental delay" RELATED [OMIM:188201]
xref: GARD:4375 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1078/attributed", source="Orphanet:1078/ntbt", source="Orphanet:1078"}
xref: MEDGEN:396073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537511 {source="Orphanet:1078", source="Orphanet:1078/e"}
xref: OMIM:188201 {source="Orphanet:1078", source="MONDO:equivalentTo", source="Orphanet:1078/e"}
xref: Orphanet:1078 {source="MONDO:equivalentTo", source="OMIM:188201"}
xref: UMLS:C1861166 {source="MEDGEN:396073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="Orphanet:1078", source="Orphanet:1078/inferred"} ! congenital limb malformation

[Term]
id: MONDO:0008564
name: DiGeorge syndrome
def: "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." [NCIT:P378]
subset: gard_rare {source="GARD:15118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "22q deletion syndrome(s)" EXACT [NCIT:C2989]
synonym: "22q11.2 Deletion syndrome" EXACT [NCIT:C2989]
synonym: "Catch22" RELATED [OMIM:188400]
synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:188400]
synonym: "DGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:188400]
synonym: "DGS1" EXACT ABBREVIATION [NCIT:C2989]
synonym: "Di-George syndrome" EXACT [GTR:AN1145678]
synonym: "DiGeorge anomaly" EXACT [NCIT:C2989]
synonym: "DiGeorge sequence" RELATED EXCLUDE [DOID:11198]
synonym: "DiGeorge syndrome" EXACT [MONDO:Lexical, OMIM:188400]
synonym: "DiGeorge syndrome chromosome region" RELATED [OMIM:188400]
synonym: "DiGeorge syndrome type 1" EXACT [NCIT:C2989]
synonym: "DiGeorge's syndrome" EXACT [DOID:11198, NCIT:C2989]
synonym: "hypoplasia of thymus and parathyroids" RELATED [OMIM:188400]
synonym: "pharyngeal pouch syndrome" EXACT [DOID:11198]
synonym: "Shprintzen syndrome" NARROW [NCIT:C2989]
synonym: "Sphrintzen" NARROW [NCIT:C2989]
synonym: "Takao VCF syndrome" RELATED [OMIM:188400]
synonym: "third and fourth pharyngeal pouch syndrome" RELATED [OMIM:188400]
synonym: "VCF" RELATED ABBREVIATION [NCIT:C2989]
synonym: "velo-cardio-facial syndrome" RELATED [NCIT:C2989]
synonym: "velocardiofacial syndrome" RELATED [NCIT:C2989]
xref: DOID:11198 {source="MONDO:equivalentTo"}
xref: GARD:15118 {source="MONDO:GARD"}
xref: GTR:AN1145678
xref: ICD10CM:D82.1 {source="DOID:11198"}
xref: ICD9:279.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11198"}
xref: MEDGEN:4297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004062 {source="MONDO:equivalentTo", source="DOID:11198"}
xref: NANDO:1200339 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200688 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200712 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2989 {source="MONDO:equivalentTo", source="DOID:11198"}
xref: OMIM:188400 {source="MONDO:equivalentTo", source="DOID:11198"}
xref: Orphanet:567 {source="OMIM:188400"}
xref: SCTID:190991007 {source="DOID:11198"}
xref: SCTID:77128003 {source="MONDO:equivalentTo", source="DOID:11198"}
xref: UMLS:C0012236 {source="MEDGEN:4297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DOID:11198"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0001222 {source="NCIT:C2989"} ! congenital T-cell immunodeficiency
is_a: MONDO:0018923 {source="Orphanet:567/btnt"} ! 22q11.2 deletion syndrome
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: disease_has_location UBERON:0004117 ! pharyngeal pouch

[Term]
id: MONDO:0008565
name: familial thyroglossal duct cyst
def: "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." [Orphanet:93953]
subset: gard_rare {source="GARD:5204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93953"}
subset: ordo_morphological_anomaly {source="Orphanet:93953"}
subset: orphanet_rare {source="Orphanet:93953"}
subset: rare
synonym: "hereditary thyroglossal duct cyst" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary thyroglossal duct cysts" RELATED [GARD:0005204]
synonym: "thyroglossal duct cyst, familial" RELATED [OMIM:188455]
synonym: "thyroglossal duct cysts" RELATED [GARD:0005204]
synonym: "thyroglossal duct cysts familial" RELATED [GARD:0005204]
xref: GARD:5204 {source="MONDO:GARD"}
xref: ICD10CM:Q89.2 {source="Orphanet:93953", source="Orphanet:93953/ntbt"}
xref: MEDGEN:501211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536909 {source="MONDO:equivalentTo"}
xref: OMIM:188455 {source="MONDO:equivalentTo", source="Orphanet:93953", source="Orphanet:93953/e"}
xref: Orphanet:93953 {source="MONDO:equivalentTo", source="OMIM:188455"}
xref: SCTID:717331000 {source="MONDO:equivalentTo"}
xref: UMLS:C3495590 {source="MEDGEN:501211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 ! thyroid gland disorder
is_a: MONDO:0003847 {source="MONDO:Entailed"} ! hereditary disease
is_a: MONDO:0006460 {source="MESH:C536909", source="MONDO:Redundant"} ! thyroglossal duct cyst
is_a: MONDO:0015476 {source="Orphanet:93953"} ! cysts and fistulae of the face and oral cavity
intersection_of: MONDO:0006460 ! thyroglossal duct cyst
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst" xsd:anyURI {source="GARD:0005204"}

[Term]
id: MONDO:0008566
name: thyroid cancer, nonmedullary, 2
subset: gard_rare {source="GARD:5206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FTC" RELATED ABBREVIATION [GARD:0005206]
synonym: "NMTC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188470]
synonym: "thyroid cancer, follicular" RELATED [GARD:0005206]
synonym: "thyroid cancer, nonmedullary, 2" EXACT [MONDO:Lexical, OMIM:188470]
synonym: "thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation" EXACT [OMIM:188470, OMIM:genemap2]
synonym: "thyroid cancer, nonmedullary, type 2" EXACT [MONDORULE:1, OMIM:188470]
synonym: "thyroid carcinoma, follicular" RELATED [GARD:0005206]
synonym: "thyroid carcinoma, follicular, autosomal dominant, somatic mutation" EXACT [OMIM:188470, OMIM:genemap2]
synonym: "thyroid carcinoma, follicular, somatic" EXACT [OMIM:188470, OMIM:genemap2]
xref: GARD:5206 {source="MONDO:GARD"}
xref: MEDGEN:904175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C572845 {source="MONDO:equivalentTo"}
xref: OMIM:188470 {source="MONDO:equivalentTo"}
xref: Orphanet:319487 {source="OMIM:188470"}
xref: UMLS:C4225426 {source="MEDGEN:904175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005034 {source="MESH:C572845"} ! thyroid gland follicular carcinoma
is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
is_a: MONDO:0017896 {source="OMIM:188470"} ! familial nonmedullary thyroid carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008567
name: thyroid cancer, nonmedullary, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial nonmedullary thyroid cancer, papillary" RELATED [OMIM:188550]
synonym: "NMTC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188550]
synonym: "nonmedullary thyroid carcinoma, papillary" RELATED [OMIM:188550]
synonym: "papillary carcinoma of thyroid" RELATED [OMIM:188550]
synonym: "thyroid cancer, nonmedullary, 1" EXACT [MONDO:Lexical, OMIM:188550]
synonym: "thyroid cancer, nonmedullary, type 1" EXACT [MONDORULE:1, OMIM:188550]
xref: MEDGEN:1648293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:188550 {source="MONDO:equivalentTo"}
xref: Orphanet:146 {source="OMIM:188550"}
xref: Orphanet:319487 {source="MONDO:relatedTo", source="OMIM:188550"}
xref: UMLS:C4721429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648293"}
is_a: MONDO:0005075 ! thyroid gland papillary carcinoma
is_a: MONDO:0017896 {source="DC-OMIM:188550", source="OMIM:188550"} ! familial nonmedullary thyroid carcinoma

[Term]
id: MONDO:0008568
name: thyroid hormone plasma membrane transport defect
synonym: "hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport defect" EXACT [OMIM:188560]
synonym: "thyroid hormone plasma membrane transport defect" EXACT [OMIM:188560]
synonym: "thyroid hormone resistance due to T4 plasma Membrane transport defect" EXACT [OMIM:188560]
xref: MEDGEN:396060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536916 {source="MONDO:equivalentTo"}
xref: OMIM:188560 {source="MONDO:equivalentTo"}
xref: UMLS:C1861101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396060"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_disrupts GO:0015349 ! thyroid hormone transmembrane transporter activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6624" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect" xsd:anyURI {source="GARD:0008499"}

[Term]
id: MONDO:0008569
name: thyroid hormone resistance, generalized, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "GRTH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188570]
synonym: "Gthr" RELATED [OMIM:188570]
synonym: "hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones" RELATED [OMIM:188570]
synonym: "thyroid hormone resistance" BROAD [OMIM:188570, OMIM:genemap2]
synonym: "thyroid hormone resistance, generalized, autosomal dominant" EXACT [MONDO:Lexical, OMIM:188570]
synonym: "thyroid hormone unresponsiveness" RELATED [OMIM:188570]
xref: MEDGEN:424846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567934 {source="MONDO:equivalentTo"}
xref: OMIM:188570 {source="MONDO:equivalentTo"}
xref: Orphanet:3221 {source="OMIM:188570"}
xref: UMLS:C2937288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424846"}
is_a: MONDO:0001328 {source="DC-OMIM:188570", source="MESH:C567934", source="MONDO:Redundant", source="MONDO:indirect"} ! thyroid hormone resistance syndrome
is_a: MONDO:0009043 {source="Orphanet:3221/btnt"} ! generalized resistance to thyroid hormone
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11799 {source="MONDO:mim2gene_medgen"} ! THRB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008570
name: thyrotoxic periodic paralysis, susceptibility to, 1
def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CACNA1S thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "thyrotoxic periodic paralysis caused by mutation in CACNA1S" EXACT [MONDO:design_pattern]
synonym: "thyrotoxic periodic paralysis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:188580]
synonym: "thyrotoxic periodic paralysis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:188580]
synonym: "TTPP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188580]
xref: MEDGEN:413199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:188580 {source="MONDO:equivalentTo"}
xref: Orphanet:79102 {source="OMIM:188580"}
xref: UMLS:C2749982 {source="MEDGEN:413199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:188580", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1397 ! CACNA1S
intersection_of: predisposes_towards MONDO:0019201 ! thyrotoxic periodic paralysis
relationship: excluded_subClassOf MONDO:0019201 {source="OMIM:188580", source="https://orcid.org/0000-0001-5208-3432"} ! thyrotoxic periodic paralysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1397 {source="MONDO:mim2gene_medgen"} ! CACNA1S
relationship: predisposes_towards MONDO:0019201 {source="OMIM:188580"} ! thyrotoxic periodic paralysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0008571
name: Blount disease, infantile
subset: gard_rare {source="GARD:15120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Blount disease, infantile" EXACT [OMIM:188700]
synonym: "Osteochondrosis deformans tibiae, infantile" RELATED [OMIM:188700]
synonym: "tibia vara, infantile" RELATED [OMIM:188700]
xref: GARD:15120 {source="MONDO:GARD"}
xref: MEDGEN:65091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:188700 {source="MONDO:equivalentTo"}
xref: Orphanet:2768 {source="OMIM:188700"}
xref: UMLS:C0220757 {source="MEDGEN:65091", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017194 {source="Orphanet:2768/btnt"} ! Blount disease

[Term]
id: MONDO:0008572
name: tibia, hypoplasia or aplasia of, with polydactyly
def: "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones." [Orphanet:988]
subset: gard_rare {source="GARD:8309", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:988"}
subset: ordo_malformation_syndrome {source="Orphanet:3332", source="Orphanet:988"}
subset: orphanet_rare {source="Orphanet:988"}
subset: rare
synonym: "absence of tibia with polydactyly" RELATED [GARD:0008309]
synonym: "absent tibia-polydactyly syndrome" EXACT [MONDO:0020306]
synonym: "hypoplastic or aplastic tibia with polydactyly" EXACT [OMIM:188740, OMIM:genemap2]
synonym: "hypoplastic tibiae-postaxial polydactyly syndrome" EXACT [MONDO:0018052]
synonym: "polydactyly with absent tibia" RELATED [GARD:0008309]
synonym: "THYP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188740]
synonym: "tibia, hypoplasia or aplasia of, with polydactyly" EXACT [MONDO:Lexical, OMIM:188740]
synonym: "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" RELATED [OMIM:188740]
synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" RELATED [Orphanet:988]
synonym: "Werner mesomelic syndrome" EXACT [Orphanet:3332]
xref: DOID:0111564 {source="MONDO:equivalentTo"}
xref: GARD:8309 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:3332", source="Orphanet:3332/attributed", source="Orphanet:3332/ntbt"}
xref: ICD10CM:Q87.2 {source="Orphanet:988/attributed", source="Orphanet:988/ntbt", source="Orphanet:988"}
xref: MEDGEN:348786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535564 {source="Orphanet:988", source="MONDO:equivalentTo", source="Orphanet:988/e"}
xref: MESH:C566046 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:188740 {source="Orphanet:3332", source="Orphanet:988/ntbt", source="Orphanet:988", source="Orphanet:3332/ntbt", source="MONDO:equivalentTo"}
xref: Orphanet:3332 {source="MONDO:equivalentObsolete", source="OMIM:188740"}
xref: Orphanet:988 {source="MONDO:equivalentTo", source="OMIM:188740"}
xref: SCTID:716741008 {source="MONDO:equivalentTo"}
xref: UMLS:C1861098 {source="MEDGEN:348786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:188740"} ! hereditary disease
is_a: MONDO:0018234 {source="Orphanet:988"} ! dysostosis
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5501" xsd:anyURI

[Term]
id: MONDO:0008573
name: tibial torsion, bilateral medial
synonym: "tibial torsion, bilateral medial" EXACT [OMIM:188800]
xref: MEDGEN:348785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566045 {source="MONDO:equivalentTo"}
xref: OMIM:188800 {source="MONDO:equivalentTo"}
xref: UMLS:C1861097 {source="MEDGEN:348785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008574
name: obsolete Tl antigen
synonym: "histocompatibility 2, T-region locus 18" RELATED [OMIM:188850]
synonym: "Thymus leukemia antigen" RELATED [OMIM:188850]
synonym: "Tl antigen" EXACT [OMIM:188850]
xref: OMIM:188850 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0008575
name: nicotine dependence
def: "Physical and psychological dependence on nicotine." [NCIT:C54203]
subset: otar {source="MONDO:OTAR"}
synonym: "nicotine addiction" EXACT [NCIT:C54203]
synonym: "tobacco use disorder" RELATED [DOID:0050742, MESH:D014029]
xref: DOID:0050742 {source="MONDO:equivalentTo", source="EFO:0003768"}
xref: EFO:0003768 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F17 {source="DOID:0050742", source="MONDO:equivalentTo"}
xref: ICD10CM:F17.2 {source="DOID:0050742"}
xref: ICD10CM:F17.20 {source="DOID:0050742"}
xref: ICD9:305.1 {source="EFO:0003768"}
xref: MEDGEN:45086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012907 {source="EFO:0003768"}
xref: MESH:D014029 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768"}
xref: NCIT:C54203 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768"}
xref: SCTID:56294008 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768"}
xref: UMLS:C0028043 {source="MONDO:equivalentTo", source="MEDGEN:45086", source="MONDO:MEDGEN"}
is_a: MONDO:0005303 {source="NCIT:C54203"} ! drug dependence
relationship: excluded_subClassOf MONDO:0020573 {source="OMIM:188890", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008576
name: toe, fifth, number of phalanges 1N
synonym: "toe, fifth, number of phalanges IN" RELATED [OMIM:189000]
synonym: "toe, fifth, number of phalanges type 1N" EXACT [MONDORULE:4, OMIM:189000]
xref: MEDGEN:348255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:189000 {source="MONDO:equivalentTo"}
xref: UMLS:C1861062 {source="MEDGEN:348255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008577
name: toe, misshapen
synonym: "toe, misshapen" EXACT [OMIM:189100]
xref: MEDGEN:396052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:189100 {source="MONDO:equivalentTo"}
xref: UMLS:C1861061 {source="MEDGEN:396052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008578
name: toe, rotated fifth
synonym: "toe, rotated fifth" EXACT [OMIM:189150]
xref: MEDGEN:348254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:189150 {source="MONDO:equivalentTo"}
xref: UMLS:C1861060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348254"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008579
name: toes, relative length of first and second
synonym: "toes, relative length of first and second" EXACT [OMIM:189200]
xref: MEDGEN:396051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:189200 {source="MONDO:equivalentTo"}
xref: UMLS:C1861059 {source="MEDGEN:396051", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008580
name: toes, space between first and second
synonym: "toes, space between first and second" EXACT [OMIM:189230]
xref: MEDGEN:348253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:189230 {source="MONDO:equivalentTo"}
xref: UMLS:C1861058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348253"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008581
name: malposition of teeth with or without hypodontia/oligodontia
synonym: "ectopic eruption of teeth" RELATED [OMIM:189490]
synonym: "malposition of teeth with or without hypodontia/oligodontia" EXACT [OMIM:189490]
xref: MEDGEN:442888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:189490 {source="MONDO:equivalentTo"}
xref: UMLS:C2752157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442888"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008582
name: tooth and nail syndrome
def: "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." [Orphanet:2228]
subset: gard_rare {source="GARD:5587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1777"}
subset: ordo_disorder {source="Orphanet:2228"}
subset: ordo_malformation_syndrome {source="Orphanet:2228"}
subset: orphanet_rare {source="Orphanet:2228"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysplasia of nails with hypodontia" RELATED [GARD:0005587]
synonym: "ectodermal dysplasia 3, Tooth/nail type" RELATED [OMIM:189500]
synonym: "ectodermal dysplasia 3, Witkop type" RELATED [OMIM:189500]
synonym: "HND" EXACT ABBREVIATION [NCIT:C40553]
synonym: "hypodontia - dysplasia of nails" RELATED [GARD:0005587]
synonym: "hypodontia and nail dysplasia" EXACT [NCIT:C40553]
synonym: "hypodontia with nail dysplasia" EXACT [NCIT:C40553]
synonym: "hypodontia-dysplasia of nails syndrome" RELATED [Orphanet:2228]
synonym: "hypodontia-nail dysgenesis syndrome" EXACT [Orphanet:2228]
synonym: "hypodontia-nail dysplasia" EXACT [NCIT:C40553]
synonym: "hypoplastic enamel-onycholysis-hypohidrosis syndrome" EXACT [DOID:6678, MTH:NOCODE]
synonym: "nail dysplasia with hypodontia" RELATED [OMIM:189500]
synonym: "TNS" RELATED ABBREVIATION [GARD:0005587]
synonym: "tooth and nail syndrome" EXACT [DOID:6678, NCIT:C40553, Orphanet:2228]
synonym: "tooth-and-nail syndrome" RELATED [OMIM:189500]
synonym: "WITKOP syndrome" RELATED [OMIM:189500]
synonym: "Witkop syndrome" EXACT [Orphanet:2228]
synonym: "Witkop's syndrome" EXACT [DOID:6678]
xref: DOID:6678 {source="MONDO:equivalentTo"}
xref: GARD:5587 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:2228", source="Orphanet:2228/attributed", source="Orphanet:2228/ntbt"}
xref: MEDGEN:140809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536736 {source="DOID:6678", source="MONDO:equivalentTo"}
xref: NCIT:C40553 {source="DOID:6678", source="MONDO:equivalentTo"}
xref: NORD:1777 {source="MONDO:NORD"}
xref: OMIM:189500 {source="DOID:6678", source="MONDO:equivalentTo", source="Orphanet:2228", source="Orphanet:2228/e"}
xref: Orphanet:2228 {source="MONDO:equivalentTo", source="OMIM:189500"}
xref: SCTID:239039003 {source="DOID:6678"}
xref: SCTID:400036004 {source="DOID:6678", source="MONDO:equivalentTo"}
xref: SCTID:68897000 {source="DOID:6678"}
xref: UMLS:C0406735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140809"}
is_a: MONDO:0002254 {source="DOID:6678", source="MONDO:0008582/inferred", source="MONDO:Redundant", source="NCIT:C40553"} ! syndromic disease
is_a: MONDO:0019287 {source="OMIM:189500", source="Orphanet:2228"} ! ectodermal dysplasia syndrome
relationship: disease_has_feature HP:0000668 ! Hypodontia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 {source="MONDO:mim2gene_medgen"} ! MSX1

[Term]
id: MONDO:0008583
name: inherited torticollis
def: "A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation." [NCIT:C4811]
subset: gard_rare {source="GARD:4908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital muscular torticollis" RELATED [GARD:0004908, MESH:C535425]
synonym: "congenital sternomastoid torticollis" RELATED []
synonym: "congenital torticollis" EXACT []
synonym: "congenital wry neck" RELATED []
synonym: "congenital wryneck" RELATED []
synonym: "contracture of sternocleidomastoid muscle" RELATED []
synonym: "familial spasmodic torticollis" RELATED [MESH:C535425]
synonym: "familial torticollis" RELATED [MESH:C535425]
synonym: "fibromatosis colli" EXACT [NCIT:C4811]
synonym: "inherited torticollis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "torticollis" EXACT [MONDO:ambiguous, OMIM:189600]
synonym: "torticollis, congenital" RELATED [GARD:0004908, MESH:C535425]
synonym: "torticollis, familial" RELATED [MESH:C535425]
xref: GARD:4908 {source="MONDO:GARD"}
xref: HP:0000473 {source="MONDO:otherHierarchy"}
xref: ICD9:723.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:11859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535425 {source="MONDO:equivalentTo"}
xref: NCIT:C4811 {source="MONDO:equivalentTo"}
xref: OMIM:189600 {source="MONDO:equivalentTo", source="GARD:0004908"}
xref: SCTID:268240006 {source="MONDO:equivalentTo"}
xref: SCTID:70070008 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0040485 {source="MEDGEN:11859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005031 {source="NCIT:C4811"} ! fibromatosis
property_value: IAO:0000589 "inherited torticollis (disease)" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis" xsd:anyURI {source="GARD:0004908"}

[Term]
id: MONDO:0008584
name: torus palatinus and torus mandibularis
synonym: "torus palatinus and torus mandibularis" EXACT [OMIM:189700]
xref: MEDGEN:349942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566043 {source="MONDO:equivalentTo"}
xref: OMIM:189700 {source="MONDO:equivalentTo"}
xref: UMLS:C1861044 {source="MEDGEN:349942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008585
name: HELLP syndrome
def: "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." [https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome]
subset: gard_rare {source="GARD:8528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:244242"}
subset: orphanet_rare {source="Orphanet:244242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [OMIM:189800]
synonym: "hemolysis, elevated liver enzymes, low platelets in pregnancy" EXACT [Orphanet:244242]
synonym: "hemolysis, elevated liver enzymes, lowered platelets" RELATED [GARD:0008528]
synonym: "hemolysis-elevated liver enzymes-low platelet count syndrome" EXACT [NCIT:C84750]
synonym: "hemolysis-elevated liver enzymes-low platelets syndrome" EXACT [Orphanet:244242]
synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800]
synonym: "PEE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:189800]
synonym: "PREECLAMPSIA/eclampsia 1" RELATED [MONDO:Lexical, OMIM:189800]
synonym: "PREG1" RELATED [OMIM:189800]
synonym: "toxaemia of pregnancy" RELATED OMO:0003005 []
synonym: "toxemia of pregnancy" RELATED [OMIM:189800]
xref: DOID:13133 {source="MONDO:equivalentTo", source="EFO:0007297"}
xref: EFO:0007297 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8528 {source="MONDO:GARD"}
xref: ICD10CM:O14.2 {source="Orphanet:244242", source="Orphanet:244242/e", source="DOID:13133"}
xref: icd11.foundation:1748922908 {source="Orphanet:244242", source="MONDO:equivalentTo"}
xref: MedDRA:10049058 {source="Orphanet:244242", source="Orphanet:244242/e"}
xref: MEDGEN:58162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017359 {source="Orphanet:244242", source="MONDO:equivalentTo", source="Orphanet:244242/e", source="DOID:13133", source="EFO:0007297"}
xref: NCIT:C84750 {source="MONDO:equivalentTo", source="DOID:13133"}
xref: OMIM:189800 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:244242 {source="MONDO:equivalentTo"}
xref: Orphanet:275555 {source="OMIM:189800"}
xref: SCTID:199010001 {source="DOID:13133"}
xref: SCTID:95605009 {source="DOID:13133"}
xref: UMLS:C0162739 {source="MEDGEN:58162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001641 {source="DOID:13133"} ! severe pre-eclampsia
is_a: MONDO:0002254 {source="NCIT:C84750"} ! syndromic disease
is_a: MONDO:0005081 {source="DOID:13133/inferred", source="EFO:0007297", source="MONDO:Redundant", source="OMIM:189800"} ! preeclampsia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome" xsd:anyURI {source="GARD:0008528"}

[Term]
id: MONDO:0008586
name: esophageal atresia/tracheoesophageal fistula
def: "Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the esophagus, with or without persistent communication with the trachea." [Orphanet:1199]
subset: gard_rare {source="GARD:6381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1108"}
subset: ordo_disorder {source="Orphanet:1199"}
subset: ordo_morphological_anomaly {source="Orphanet:1199"}
subset: orphanet_rare {source="Orphanet:1199"}
subset: rare
synonym: "Esophageal Atresia and/or Tracheoesophageal Fistula" EXACT [NORD:1108]
synonym: "esophageal atresia and/or tracheoesophageal fistula" EXACT [DOID:0080171]
synonym: "esophageal atresia with or without tracheoesophageal fistula" RELATED [OMIM:189960]
synonym: "te fistula" RELATED [GARD:0007792]
synonym: "TEF" RELATED ABBREVIATION [GARD:0007792]
synonym: "tracheoesophageal fistula" RELATED [GARD:0007792]
synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT [DOID:0080171]
synonym: "tracheoesophageal fistula with or without esophageal atresia" RELATED [OMIM:189960]
xref: DOID:0080171 {source="MONDO:equivalentTo"}
xref: GARD:6381 {source="MONDO:GARD"}
xref: ICD10CM:Q39.0 {source="Orphanet:1199", source="Orphanet:1199/e"}
xref: ICD10CM:Q39.1 {source="Orphanet:1199", source="Orphanet:1199/e"}
xref: icd11.foundation:1582061097 {source="Orphanet:1199", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10021530 {source="Orphanet:1199", source="Orphanet:1199/e"}
xref: MedDRA:10030146 {source="Orphanet:1199", source="Orphanet:1199/e"}
xref: MEDGEN:21228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531835 {source="MONDO:equivalentTo"}
xref: MESH:D004933 {source="MONDO:relatedTo", source="Orphanet:1199", source="Orphanet:1199/e"}
xref: NORD:1108 {source="MONDO:NORD"}
xref: OMIM:189960 {source="Orphanet:1199", source="MONDO:equivalentTo", source="Orphanet:1199/e", source="DOID:0080171"}
xref: Orphanet:1199 {source="MONDO:equivalentTo", source="OMIM:189960"}
xref: SCTID:95435007 {source="MONDO:equivalentTo"}
xref: UMLS:C0040588 {source="MEDGEN:21228", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="https://orcid.org/0000-0001-5208-3432"} ! esophageal disorder

[Term]
id: MONDO:0008587
name: tracheobronchopathia osteochondroplastica
def: "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." [Orphanet:3348]
subset: gard_rare {source="GARD:5235", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3348"}
subset: orphanet_rare {source="Orphanet:3348"}
subset: rare
synonym: "cartilaginous or bony projections into the tracheobronchial lumen" RELATED [GARD:0005235]
synonym: "tracheobronchopathia osteochondroplastica" EXACT [OMIM:189961]
synonym: "tracheobronchopathia osteoplastica" RELATED [GARD:0005235]
synonym: "tracheopathia osteoplastica" EXACT [OMIM:189961, Orphanet:3348]
xref: GARD:5235 {source="MONDO:GARD"}
xref: ICD10CM:J98.0 {source="Orphanet:3348", source="Orphanet:3348/ntbt"}
xref: icd11.foundation:1797446244 {source="MONDO:equivalentTo", source="Orphanet:3348"}
xref: MEDGEN:854438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536977 {source="MONDO:equivalentTo"}
xref: OMIM:189961 {source="MONDO:equivalentTo", source="Orphanet:3348", source="Orphanet:3348/e"}
xref: Orphanet:3348 {source="MONDO:equivalentTo", source="OMIM:189961"}
xref: SCTID:54675009 {source="MONDO:equivalentTo"}
xref: UMLS:C3887588 {source="MEDGEN:854438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:3348"} ! respiratory system disorder

[Term]
id: MONDO:0008588
name: hereditary geniospasm
def: "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." [Orphanet:53372]
subset: gard_rare {source="GARD:9501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53372"}
subset: orphanet_rare {source="Orphanet:53372"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial trembling of the chin" EXACT [Orphanet:53372]
synonym: "geniospasm" RELATED [GARD:0009501]
synonym: "geniospasm 1" RELATED [MONDO:Lexical, OMIM:190100]
synonym: "GSM 1" RELATED [GARD:0009501]
synonym: "GSM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190100]
synonym: "hereditary chin myoclonus" EXACT [Orphanet:53372]
synonym: "hereditary chin tremor/myoclonus" RELATED [GARD:0009501]
synonym: "hereditary chin-trembling" EXACT [Orphanet:53372]
synonym: "trembling Chin" RELATED [OMIM:190100]
xref: GARD:9501 {source="MONDO:GARD"}
xref: ICD10CM:G25.3 {source="Orphanet:53372/attributed", source="Orphanet:53372/ntbt", source="Orphanet:53372"}
xref: MEDGEN:348757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537682 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"}
xref: OMIM:190100 {source="Orphanet:53372/e", source="MONDO:equivalentTo", source="Orphanet:53372"}
xref: Orphanet:53372 {source="OMIM:190100", source="MONDO:equivalentTo"}
xref: SCTID:718103001 {source="MONDO:equivalentTo"}
xref: UMLS:C1860972 {source="MEDGEN:348757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="Orphanet:53372"} ! movement disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017644"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm" xsd:anyURI {source="GARD:0009501"}

[Term]
id: MONDO:0008589
name: tremor of intention, ataxia, and lipofuscinosis
synonym: "tremor of intention, ataxia, and lipofuscinosis" EXACT [OMIM:190200]
xref: MEDGEN:396002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566038 {source="MONDO:equivalentTo"}
xref: OMIM:190200 {source="MONDO:equivalentTo"}
xref: UMLS:C1860872 {source="MEDGEN:396002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566038/inferred"} ! hereditary disease

[Term]
id: MONDO:0008590
name: tremor, hereditary essential, 1
def: "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DRD3 essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "essential tremor caused by mutation in DRD3" EXACT [MONDO:design_pattern]
synonym: "essential tremor, hereditary, 1" EXACT [OMIM:190300, OMIM:genemap2]
synonym: "ETM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190300]
synonym: "FET1" RELATED ABBREVIATION [GARD:0005244]
synonym: "tremor familial essential, 1" RELATED [GARD:0005244]
synonym: "tremor hereditary essential, 1" RELATED [GARD:0005244]
synonym: "tremor, familial essential, 1" RELATED [OMIM:190300]
synonym: "tremor, hereditary essential, 1" EXACT [MONDO:Lexical, OMIM:190300]
synonym: "tremor, hereditary essential, type 1" EXACT [MONDORULE:1, OMIM:190300]
xref: DOID:0111428 {source="MONDO:equivalentTo"}
xref: MEDGEN:349909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536545 {source="MONDO:equivalentTo"}
xref: OMIM:190300 {source="MONDO:equivalentTo"}
xref: Orphanet:862 {source="OMIM:190300"}
xref: UMLS:C1860861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349909"}
is_a: MONDO:0003233 {source="DC-OMIM:190300", source="MESH:C536545", source="MONDO:Redundant", source="OMIM:190300"} ! essential tremor
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0003233 ! essential tremor
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3024 ! DRD3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3024 {source="MONDO:mim2gene_medgen"} ! DRD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008591
name: tremor-nystagmus-duodenal ulcer syndrome
subset: gard_rare {source="GARD:3948", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3350"}
subset: orphanet_rare {source="Orphanet:3350"}
subset: rare
synonym: "Neuhauser Daly Magnelli syndrome" RELATED [GARD:0003948]
synonym: "Neuhauser-Daly-Magnelli syndrome" EXACT [Orphanet:3350]
synonym: "tremor nystagmus duodenal ulcer" RELATED [GARD:0003948]
synonym: "tremor, NYSTAGMUS, and duodenal ulcer" RELATED [OMIM:190310]
xref: GARD:3948 {source="MONDO:GARD"}
xref: MEDGEN:349908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536406 {source="MONDO:equivalentTo"}
xref: OMIM:190310 {source="Orphanet:3350/e", source="MONDO:equivalentTo", source="GARD:0003948", source="Orphanet:3350"}
xref: Orphanet:3350 {source="OMIM:190310", source="MONDO:equivalentTo"}
xref: UMLS:C1860860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349908"}
is_a: MONDO:0005395 {source="Orphanet:3350"} ! movement disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017644"} ! rare

[Term]
id: MONDO:0008592
name: tricho-dento-osseous syndrome
def: "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." [Orphanet:3352]
subset: gard_rare {source="GARD:7799", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1786"}
subset: ordo_disorder {source="Orphanet:3352"}
subset: ordo_malformation_syndrome {source="Orphanet:3352"}
subset: orphanet_rare {source="Orphanet:3352"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "enamel hypoplasia and hypocalcification with associated strikingly curly hair" RELATED [GARD:0007799]
synonym: "kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails" RELATED [GARD:0005252]
synonym: "TDO" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190320]
synonym: "TDO syndrome" EXACT [OMIM:190320, Orphanet:3352]
synonym: "TDO syndrome 1" RELATED [GARD:0005252]
synonym: "Tricho Dento Osseous Syndrome" EXACT [NORD:1786]
synonym: "Tricho-dento-osseous syndrome 1" RELATED [GARD:0005252]
synonym: "TRICHODENTOOSSEOUS syndrome" EXACT [MONDO:Lexical, OMIM:190320]
synonym: "trichodontoosseous syndrome" EXACT [OMIM:190320, OMIM:genemap2]
xref: DOID:0111565 {source="MONDO:equivalentTo"}
xref: GARD:7799 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:3352/attributed", source="Orphanet:3352/ntbt", source="Orphanet:3352"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536549 {source="Orphanet:3352/e", source="MONDO:equivalentTo", source="Orphanet:3352"}
xref: NORD:1786 {source="MONDO:NORD"}
xref: OMIM:190320 {source="Orphanet:3352/e", source="MONDO:equivalentTo", source="GARD:0005252", source="Orphanet:3352"}
xref: Orphanet:3352 {source="OMIM:190320", source="MONDO:equivalentTo"}
xref: SCTID:38993008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78555"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
is_a: MONDO:0019287 {source="Orphanet:3352"} ! ectodermal dysplasia syndrome
relationship: disease_has_feature HP:0011001 {source="Orphanet:3352"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:3352", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2916 {source="MONDO:mim2gene_medgen"} ! DLX3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome" xsd:anyURI {source="GARD:0007799"}

[Term]
id: MONDO:0008593
name: trichomegaly
subset: otar {source="MONDO:OTAR"}
synonym: "eyelashes, long" RELATED [OMIM:190330]
synonym: "TCMGLY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190330]
synonym: "trichomegaly" EXACT [MONDO:Lexical, OMIM:190330]
xref: MEDGEN:163139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:190330 {source="MONDO:equivalentTo"}
xref: Orphanet:411788 {source="OMIM:190330"}
xref: UMLS:C0854699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163139"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3683 {source="MONDO:mim2gene_medgen"} ! FGF5

[Term]
id: MONDO:0008594
name: familial multiple discoid fibromas
def: "A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation." [Orphanet:538756]
subset: gard_rare {source="GARD:8479", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:538756"}
subset: orphanet_rare {source="Orphanet:538756"}
subset: rare
synonym: "discoid fibromas, familial multiple" RELATED [MONDO:Lexical, OMIM:190340]
synonym: "familial multiple trichodiscomas" RELATED [GARD:0008479]
synonym: "FMDF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190340]
synonym: "hereditary multiple trichodiscomas" RELATED [GARD:0008479]
synonym: "small benign fibrovascular tumor of the dermal part of the hair disk" RELATED [GARD:0008479]
synonym: "small benign fibrovascular tumour of the dermal part of the hair disc" RELATED OMO:0003005 []
synonym: "trichodiscomas, familial multiple" RELATED [OMIM:190340]
xref: GARD:8479 {source="MONDO:GARD"}
xref: MEDGEN:348201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536847 {source="MONDO:equivalentTo"}
xref: OMIM:190340 {source="Orphanet:538756", source="MONDO:equivalentTo"}
xref: Orphanet:538756 {source="MONDO:equivalentTo"}
xref: UMLS:C1860850 {source="MEDGEN:348201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002531 {source="https://orcid.org/0000-0001-5208-3432"} ! skin neoplasm
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0008595
name: trichoepitheliomas, multiple desmoplastic
synonym: "trichoepitheliomas, multiple desmoplastic" EXACT [OMIM:190345]
xref: MEDGEN:348200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566034 {source="MONDO:equivalentTo"}
xref: OMIM:190345 {source="MONDO:equivalentTo"}
xref: UMLS:C1860849 {source="MEDGEN:348200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature MONDO:0020593 ! trichoblastoma

[Term]
id: MONDO:0008596
name: trichorhinophalangeal syndrome type I
def: "An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature." [PMID:10615131]
subset: gard_rare {source="GARD:7800", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1787"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Giedion syndrome" RELATED [GARD:0007800]
synonym: "Sugio-Kajii syndrome" EXACT [DOID:14743]
synonym: "trichorhinophalangeal dysplasia type I" RELATED [DOID:14743, MTH:NOCODE]
synonym: "trichorhinophalangeal syndrome type 1" RELATED [GARD:0007800]
synonym: "trichorhinophalangeal syndrome type I" EXACT CLINGEN_LABEL []
synonym: "trichorhinophalangeal syndrome, type 1" RELATED [OMIM:190350]
synonym: "trichorhinophalangeal syndrome, type I" RELATED [MONDO:Lexical, OMIM:190350]
synonym: "TRPS 1" RELATED [OMIM:190350]
synonym: "TRPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190350]
synonym: "type I trichorhinophalangeal syndrome" EXACT [DOID:14743]
synonym: "type III trichorhinophalangeal syndrome" EXACT [DOID:14743]
xref: DOID:14743 {source="MONDO:equivalentTo"}
xref: GARD:7800 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536820 {source="MONDO:equivalentTo", source="DOID:14743"}
xref: NCIT:C75109 {source="MONDO:equivalentTo", source="DOID:14743"}
xref: NORD:1787 {source="MONDO:NORD"}
xref: OMIM:190350 {source="MONDO:equivalentTo", source="DOID:14743"}
xref: Orphanet:77258 {source="OMIM:190350"}
xref: SCTID:239016009 {source="DOID:14743"}
xref: SCTID:254091006 {source="MONDO:equivalentTo", source="DOID:14743"}
xref: UMLS:C0432233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140929"}
is_a: MONDO:0000426 {source="DOID:14743", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="NCIT:C75109", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0017951 {source="https://orcid.org/0000-0002-4142-7153"} ! trichorhinophalangeal syndrome
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:190350"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12340 {source="MONDO:mim2gene_medgen"} ! TRPS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0008597
name: trichorhinophalangeal syndrome, type III
def: "A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature." [https://orcid.org/0000-0002-6601-2165, PMID:4025405]
subset: gard_rare {source="GARD:7802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1789"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sugio-Kajii syndrome" RELATED [OMIM:190351]
synonym: "trichorhinophalangeal syndrome type 3" EXACT [GARD:0007802]
synonym: "Trichorhinophalangeal Syndrome Type III" EXACT [NORD:1789]
synonym: "trichorhinophalangeal syndrome, type 3" EXACT [MONDO:Lexical]
synonym: "trichorhinophalangeal syndrome, type III" EXACT [OMIM:190351]
synonym: "TRPS 3" EXACT [GARD:0007802]
synonym: "TRPS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190351]
xref: DOID:0080376 {source="MONDO:equivalentTo"}
xref: GARD:7802 {source="MONDO:GARD"}
xref: MEDGEN:349899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566033 {source="MONDO:equivalentTo"}
xref: NORD:1789 {source="MONDO:NORD"}
xref: OMIM:190351 {source="MONDO:equivalentTo"}
xref: Orphanet:77258 {source="OMIM:190351"}
xref: UMLS:C1860823 {source="MEDGEN:349899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0017951 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! trichorhinophalangeal syndrome
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:190351"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12340 {source="MONDO:mim2gene_medgen"} ! TRPS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008598
name: trichodysplasia-xeroderma syndrome
def: "Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987." [Orphanet:3361]
subset: gard_rare {source="GARD:5261", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3361"}
subset: ordo_malformation_syndrome {source="Orphanet:3361"}
subset: orphanet_rare {source="Orphanet:3361"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "trichodysplasia xeroderma" RELATED [GARD:0005261]
synonym: "trichodysplasia-xeroderma" RELATED [OMIM:190360]
xref: GARD:5261 {source="MONDO:GARD"}
xref: MEDGEN:349898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566032 {source="MONDO:equivalentTo"}
xref: OMIM:190360 {source="Orphanet:3361/e", source="MONDO:equivalentTo", source="Orphanet:3361"}
xref: Orphanet:3361 {source="MONDO:equivalentTo", source="OMIM:190360"}
xref: UMLS:C1860822 {source="MEDGEN:349898", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly

[Term]
id: MONDO:0008599
name: trigeminal neuralgia
def: "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." [https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia]
subset: gard_rare {source="GARD:7805", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1791"}
subset: ordo_disorder {source="Orphanet:221091"}
subset: orphanet_rare {source="Orphanet:221091"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuralgia of trigeminal nerve" EXACT [MONDO:design_pattern]
synonym: "Tic douloureux" RELATED [OMIM:190400]
synonym: "trifacial neuralgia" EXACT [DOID:12098]
synonym: "trifocal neuralgia" EXACT [DOID:12098]
synonym: "trigeminal nerve neuralgia" EXACT [MONDO:patterns/location]
synonym: "trigeminal neuralgia" EXACT [DOID:12098, ICD9CM:350.1, OMIM:190400]
xref: DOID:12098 {source="MONDO:equivalentTo", source="EFO:1001219"}
xref: EFO:1001219 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7805 {source="MONDO:GARD"}
xref: ICD10CM:G50.0 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"}
xref: icd11.foundation:1803581281 {source="MONDO:equivalentTo", source="Orphanet:221091"}
xref: ICD9:350.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12098"}
xref: MedDRA:10044652 {source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"}
xref: MEDGEN:21683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014277 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"}
xref: NORD:1791 {source="MONDO:NORD"}
xref: OMIM:190400 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"}
xref: Orphanet:221091 {source="OMIM:190400", source="MONDO:equivalentTo"}
xref: SCTID:155066002 {source="DOID:12098"}
xref: SCTID:193090007 {source="DOID:12098"}
xref: SCTID:31681005 {source="MONDO:equivalentTo", source="DOID:12098", source="EFO:1001219"}
xref: SCTID:322769008 {source="DOID:12098"}
xref: UMLS:C0040997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21683"}
is_a: MONDO:0002602 {source="ISBN-13:978-1259644030"} ! central nervous system disorder
is_a: MONDO:0003543 {source="DOID:12098", source="MESH:D014277", source="MONDO:Redundant"} ! trigeminal nerve disorder
is_a: MONDO:0016374 {source="MONDO:Redundant", source="Orphanet:221091"} ! cranial neuralgia
intersection_of: MONDO:0021667 ! neuralgia
intersection_of: disease_has_location UBERON:0001645 ! trigeminal nerve
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia" xsd:anyURI {source="GARD:0007805"}

[Term]
id: MONDO:0008600
name: trigger thumb
def: "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)." [MESH:D052582]
synonym: "bilateral trigger thumb (type)" RELATED [GARD:0008484]
synonym: "congenital trigger thumb (type)" RELATED [GARD:0008484]
synonym: "recurrent trigger thumb (type)" RELATED [GARD:0008484]
synonym: "trigger thumb" EXACT [OMIM:190410]
xref: MEDGEN:98044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052582 {source="MONDO:equivalentTo"}
xref: OMIM:190410 {source="MONDO:equivalentTo"}
xref: SCTID:42786005 {source="MONDO:equivalentTo"}
xref: UMLS:C0410060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98044"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8484/trigger-thumb" xsd:anyURI {source="GARD:0008484"}

[Term]
id: MONDO:0008601
name: triglyceride storage disease, type 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "triglyceride storage disease, type I" RELATED [OMIM:190420]
xref: MEDGEN:349897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566031 {source="MONDO:equivalentTo"}
xref: OMIM:190420 {source="MONDO:equivalentTo"}
xref: UMLS:C1860821 {source="MEDGEN:349897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000155 {source="DC-OMIM:190420"} ! triglyceride storage disease

[Term]
id: MONDO:0008602
name: triglyceride storage disease, type 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "triglyceride storage disease, type II" RELATED [OMIM:190430]
xref: MEDGEN:349896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566030 {source="MONDO:equivalentTo"}
xref: OMIM:190430 {source="MONDO:equivalentTo"}
xref: UMLS:C1860820 {source="MEDGEN:349896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000155 {source="DC-OMIM:190430"} ! triglyceride storage disease

[Term]
id: MONDO:0008603
name: trigonocephaly 1
def: "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18558", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "craniosynostosis, metopic" RELATED [OMIM:190440]
synonym: "FGFR1 isolated trigonocephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated trigonocephaly caused by mutation in FGFR1" EXACT [MONDO:design_pattern]
synonym: "TRIGNO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190440]
synonym: "trigonocephaly 1" EXACT [MONDO:Lexical, OMIM:190440]
synonym: "trigonocephaly type 1" EXACT [MONDORULE:1, OMIM:190440]
xref: GARD:18558 {source="MONDO:GARD"}
xref: MEDGEN:98473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:190440 {source="MONDO:equivalentTo"}
xref: Orphanet:3366 {source="OMIM:190440"}
xref: UMLS:C0432122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98473"}
is_a: MONDO:0000156 {source="MONDO:Redundant", source="OMIM:190440"} ! trigonocephaly
is_a: MONDO:0018065 {source="MONDO:Redundant", source="Orphanet:3366/btnt"} ! isolated trigonocephaly
intersection_of: MONDO:0018065 ! isolated trigonocephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 ! FGFR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1

[Term]
id: MONDO:0008604
name: triphalangeal thumb with double phalanges
synonym: "triphalangeal thumb with double phalanges" EXACT [OMIM:190500]
xref: MEDGEN:395985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566028 {source="MONDO:equivalentTo"}
xref: OMIM:190500 {source="MONDO:equivalentTo"}
xref: UMLS:C1860807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395985"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008605
name: triphalangeal thumb, Nonopposable
synonym: "non-opposable triphalangeal thumb" RELATED [GARD:0005288]
synonym: "TPT" RELATED ABBREVIATION [GARD:0005288]
synonym: "triphalangeal thumb non opposable" RELATED [GARD:0005288]
synonym: "triphalangeal thumb, Nonopposable" EXACT [OMIM:190600]
xref: MEDGEN:444008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536562 {source="MONDO:equivalentTo"}
xref: OMIM:190600 {source="MONDO:equivalentTo"}
xref: UMLS:C2931238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444008"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008606
name: Say-field-Coldwell syndrome
def: "Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters." [Orphanet:3133]
subset: gard_rare {source="GARD:242", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:3133"}
subset: rare
synonym: "polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence" RELATED [GARD:0000242]
synonym: "triphalangeal thumbs and dislocation of patella" RELATED [OMIM:190650]
synonym: "triphalangeal thumbs-dislocation of patella syndrome" EXACT [Orphanet:3133]
xref: GARD:242 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:3133", source="Orphanet:3133/attributed", source="Orphanet:3133/ntbt"}
xref: MEDGEN:348711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536619 {source="Orphanet:3133", source="MONDO:equivalentTo", source="Orphanet:3133/e"}
xref: OMIM:190650 {source="Orphanet:3133", source="MONDO:equivalentTo", source="Orphanet:3133/e"}
xref: Orphanet:3133 {source="OMIM:190650", source="MONDO:equivalentObsolete"}
xref: UMLS:C1860805 {source="MEDGEN:348711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="Orphanet:3133"} ! congenital limb malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome" xsd:anyURI {source="GARD:0000242"}

[Term]
id: MONDO:0008607
name: triphalangeal thumbs-brachyectrodactyly syndrome
def: "Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant." [Orphanet:2947]
subset: gard_rare {source="GARD:5290", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2947"}
subset: ordo_malformation_syndrome {source="Orphanet:2947"}
subset: orphanet_rare {source="Orphanet:2947"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnevale-Hernández-del Castillo syndrome" EXACT [Orphanet:2947]
synonym: "triphalangeal thumb and brachy-ectrodactyly syndrome" RELATED [GARD:0005290]
synonym: "triphalangeal thumb and brachyectrodactyly syndrome" RELATED [GARD:0005290]
synonym: "triphalangeal thumbs brachyectrodactyly" RELATED [GARD:0005290]
synonym: "triphalangeal thumbs with brachyectrodactyly" RELATED [OMIM:190680]
xref: GARD:5290 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:2947/attributed", source="Orphanet:2947/ntbt", source="Orphanet:2947"}
xref: MEDGEN:348710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536564 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="Orphanet:2947"}
xref: OMIM:190680 {source="Orphanet:2947/e", source="MONDO:equivalentTo", source="Orphanet:2947"}
xref: Orphanet:2947 {source="MONDO:equivalentTo", source="OMIM:190680"}
xref: UMLS:C1860804 {source="MEDGEN:348710", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="Orphanet:2947"} ! congenital limb malformation

[Term]
id: MONDO:0008608
name: Down syndrome
def: "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." [https://orcid.org/0000-0002-4142-7153, Orphanet:870]
comment: May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future {source="EFO:0001064"}
subset: ordo_disorder {source="Orphanet:870"}
subset: ordo_malformation_syndrome {source="Orphanet:870"}
subset: orphanet_rare {source="Orphanet:870"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete trisomy 21 syndrome" NARROW [DOID:14250]
synonym: "Down syndrome" EXACT [NCIT:C2993, OMIM:190685]
synonym: "Down syndrome chromosome region" RELATED [OMIM:190685]
synonym: "Down syndrome critical region" RELATED [OMIM:190685]
synonym: "Down syndrome, Isolated cases" EXACT [OMIM:190685, OMIM:genemap2]
synonym: "Down's syndrome" EXACT [DOID:14250]
synonym: "Down's syndrome - trisomy 21" EXACT [DOID:14250]
synonym: "Downs syndrome" EXACT [DOID:14250, NCIT:C2993]
synonym: "G trisomy" EXACT [DOID:14250]
synonym: "leukemia, megakaryoblastic, of Down syndrome" RELATED [OMIM:190685]
synonym: "leukemia, megakaryoblastic, with or without Down syndrome, somatic" EXACT [OMIM:190685, OMIM:genemap2]
synonym: "transient myeloproliferative disorder of Down syndrome" RELATED [OMIM:190685]
synonym: "trisomy 21" NARROW [NCIT:C2993, OMIM:190685, Orphanet:870]
synonym: "trisomy 21 (Down syndrome)" EXACT [NCIT:C2993]
synonym: "trisomy 21 syndrome" NARROW [DOID:14250, NCIT:C2993]
xref: DOID:14250 {source="EFO:0001064", source="MONDO:equivalentTo"}
xref: EFO:0001064 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:Q90 {source="DOID:14250"}
xref: ICD10CM:Q90.0 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"}
xref: ICD10CM:Q90.1 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"}
xref: ICD10CM:Q90.2 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"}
xref: ICD10CM:Q90.9 {source="Orphanet:870/specific", source="DOID:14250", source="Orphanet:870/btnt", source="Orphanet:870"}
xref: icd11.foundation:1624623908 {source="MONDO:equivalentTo", source="Orphanet:870", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:758.0 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10044688 {source="Orphanet:870/e", source="Orphanet:870"}
xref: MEDGEN:4385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004314 {source="EFO:0001064", source="Orphanet:870/e", source="DOID:14250", source="MONDO:equivalentTo", source="Orphanet:870"}
xref: NANDO:2200965 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C101222 {source="DOID:14250"}
xref: NCIT:C2993 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo"}
xref: NCIT:C43224
xref: NIFSTD:nlx_dys_20090502 {source="EFO:0001064"}
xref: OMIM:190685 {source="Orphanet:870/e", source="DOID:14250", source="MONDO:equivalentTo", source="Orphanet:870"}
xref: Orphanet:870 {source="OMIM:190685", source="MONDO:equivalentTo"}
xref: SCTID:157019002 {source="DOID:14250"}
xref: SCTID:205614001 {source="DOID:14250"}
xref: SCTID:205618003 {source="DOID:14250"}
xref: SCTID:254263008 {source="DOID:14250"}
xref: SCTID:41040004 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo"}
xref: UMLS:C0013080 {source="MEDGEN:4385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700124 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 21 disorder
relationship: disease_arises_from_structure CHR:9606-chr21 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 21 (Human)
relationship: disease_has_feature HP:0001249 {source="https://github.com/monarch-initiative/mondo/issues/824"} ! Intellectual disability
relationship: disease_has_feature HP:0001626 {source="https://github.com/monarch-initiative/mondo/issues/824"} ! Abnormality of the cardiovascular system
relationship: disease_has_feature HP:0001999 {source="https://github.com/monarch-initiative/mondo/issues/824"} ! Abnormal facial shape
relationship: disease_has_feature MONDO:0005027 {source="https://github.com/monarch-initiative/mondo/issues/824"} ! epilepsy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:870", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C2993", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0003847 {source="DOID:14250/inferred", source="EFO:0001064", source="MESH:D004314/inferred", source="MONDO:Redundant", source="NCIT:C2993", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:870", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015506 {source="Orphanet:870", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare syndrome with cardiac malformations
relationship: excluded_subClassOf MONDO:0015652 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-8486-0558"} ! obsolete chromosomal anomaly with epilepsy as a major feature
relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:870", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Moyamoya syndrome
relationship: excluded_subClassOf MONDO:0019040 {source="DOID:14250", source="MESH:D004314", source="Orphanet:870/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! chromosomal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008609
name: Tristichiasis
synonym: "eyelashes, three rows of" RELATED [OMIM:190800]
synonym: "Tristichiasis" EXACT [OMIM:190800]
xref: MEDGEN:349889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:190800 {source="MONDO:equivalentTo"}
xref: UMLS:C1860785 {source="MONDO:equivalentTo", source="MEDGEN:349889", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008610
name: blue color blindness
def: "Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision." [Orphanet:88629]
subset: gard_rare {source="GARD:16768", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88629"}
subset: orphanet_rare {source="Orphanet:88629"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blue color blindness" EXACT [Orphanet:88629]
synonym: "blue colorblindness" RELATED [OMIM:190900]
synonym: "colorblindness, tritan" RELATED [OMIM:190900]
synonym: "colorblindness, tritanopic" RELATED [OMIM:190900]
synonym: "congenital tritanopia" EXACT [Orphanet:88629]
synonym: "tritan color blindness" EXACT [Orphanet:88629]
synonym: "tritan colour blindness" EXACT OMO:0003005 []
synonym: "tritan defect" EXACT [DOID:11661, ICD9CM:368.53]
synonym: "tritanopia" EXACT [DOID:11661, OMIM:190900]
xref: DOID:11661 {source="MONDO:equivalentTo"}
xref: GARD:16768 {source="MONDO:GARD"}
xref: ICD10CM:H53.5 {source="Orphanet:88629/inclusion", source="Orphanet:88629", source="Orphanet:88629/ntbt"}
xref: ICD10CM:H53.55 {source="DOID:11661"}
xref: ICD9:368.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11661"}
xref: MEDGEN:57827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003117 {source="DOID:11661"}
xref: OMIM:190900 {source="MONDO:equivalentTo", source="Orphanet:88629", source="DOID:11661", source="Orphanet:88629/e"}
xref: Orphanet:88629 {source="MONDO:equivalentTo", source="OMIM:190900"}
xref: SCTID:51886007 {source="MONDO:equivalentTo", source="DOID:11661"}
xref: SCTID:85049009 {source="DOID:11661"}
xref: UMLS:C0155017 {source="MEDGEN:57827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001703 {source="DOID:11661", source="Orphanet:88629"} ! color vision disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1012 {source="MONDO:mim2gene_medgen"} ! OPN1SW

[Term]
id: MONDO:0008611
name: humerus trochlea aplasia
def: "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." [Orphanet:3383]
subset: gard_rare {source="GARD:2750", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3383"}
subset: ordo_malformation_syndrome {source="Orphanet:3383"}
subset: orphanet_rare {source="Orphanet:3383"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aplasia of trochlea of the humerus" RELATED [GARD:0002750]
synonym: "trochlea of the humerus aplasia of" RELATED [GARD:0002750]
synonym: "trochlea of the HUMERUS, aplasia OF" RELATED [OMIM:191000]
xref: GARD:2750 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:3383/attributed", source="Orphanet:3383/ntbt", source="Orphanet:3383"}
xref: MEDGEN:348185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566022 {source="MONDO:equivalentTo"}
xref: OMIM:191000 {source="Orphanet:3383/e", source="MONDO:equivalentTo", source="Orphanet:3383"}
xref: Orphanet:3383 {source="MONDO:equivalentTo", source="OMIM:191000"}
xref: SCTID:732928005 {source="MONDO:equivalentTo"}
xref: UMLS:C1860773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348185"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2750/trochlea-of-the-humerus-aplasia-of" xsd:anyURI {source="GARD:0002750"}

[Term]
id: MONDO:0008612
name: tuberous sclerosis 1
def: "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." [NCIT:C75122]
subset: gard_rare {source="GARD:15121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TSC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:191100]
synonym: "TSC1 tuberous sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "tuberose sclerosis" RELATED [OMIM:191100]
synonym: "tuberous sclerosis 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:191100]
synonym: "tuberous sclerosis caused by mutation in TSC1" EXACT [MONDO:design_pattern]
synonym: "tuberous sclerosis Complex" RELATED [OMIM:191100]
synonym: "tuberous sclerosis type 1" EXACT [MONDORULE:1, OMIM:191100]
synonym: "tuberous sclerosis, type 1" RELATED [GARD:0005380]
synonym: "tuberous sclerosis-1" EXACT [OMIM:191100, OMIM:genemap2]
xref: DOID:0080324 {source="MONDO:equivalentTo"}
xref: GARD:15121 {source="MONDO:GARD"}
xref: MEDGEN:344288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565346 {source="MONDO:equivalentTo"}
xref: NCIT:C75122 {source="MONDO:equivalentTo"}
xref: OMIM:191100 {source="GARD:0005380", source="MONDO:equivalentTo"}
xref: Orphanet:805 {source="OMIM:191100"}
xref: UMLS:C1854465 {source="MEDGEN:344288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001734 {source="DC-OMIM:191100", source="MONDO:Redundant", source="NCIT:C75122", source="OMIM:191100"} ! tuberous sclerosis
intersection_of: MONDO:0001734 ! tuberous sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12362 ! TSC1
relationship: excluded_subClassOf MONDO:0019341 {source="Orphanet:805/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete tuberous sclerosis complex
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:191100"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12362 {source="MONDO:mim2gene_medgen"} ! TSC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008613
name: Tuftsin deficiency
synonym: "Tuftsin deficiency" EXACT [OMIM:191150]
xref: ICD9:279.03 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562872 {source="MONDO:equivalentTo"}
xref: OMIM:191150 {source="MONDO:equivalentTo"}
xref: SCTID:234584007 {source="MONDO:equivalentTo"}
xref: UMLS:C0398741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98311"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008614
name: suppressor of tumorigenicity 3
synonym: "cervical carcinoma" RELATED [OMIM:191181, OMIM:genemap2]
synonym: "cervical carcinoma, tumor-suppressor Gene involved 1N" RELATED [OMIM:191181]
synonym: "ST3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:191181]
synonym: "suppressor of tumorigenicity 3" EXACT [MONDO:Lexical, OMIM:191181]
synonym: "tumor-suppressor Gene, Hela cell type" RELATED [OMIM:191181]
xref: MEDGEN:348673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:191181 {source="MONDO:equivalentTo"}
xref: UMLS:C1860658 {source="MEDGEN:348673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008615
name: tune deafness
synonym: "amusia, congenital" RELATED [OMIM:191200]
synonym: "Dysmelodia" RELATED [OMIM:191200]
synonym: "tone deafness" RELATED [OMIM:191200]
synonym: "tune deafness" EXACT [OMIM:191200]
xref: ICD9:389.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:349862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566019 {source="MONDO:equivalentTo"}
xref: OMIM:191200 {source="MONDO:equivalentTo"}
xref: SCTID:55647004 {source="MONDO:equivalentTo"}
xref: UMLS:C1860646 {source="MEDGEN:349862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008616
name: obsolete twinning due to superfetation
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "superfetation twinning" RELATED [OMIM:191250]
synonym: "twinning due to superfetation" EXACT [OMIM:191250]
xref: MESH:C566018 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:191250 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008617
name: inflammatory bowel disease 11
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22." [DOID:0110894, PMID:8841195]
synonym: "IBD11" EXACT ABBREVIATION [DOID:0110894, MONDO:Lexical, OMIM:191390]
synonym: "inflammatory bowel disease 11" EXACT [MONDO:Lexical, OMIM:191390]
synonym: "inflammatory bowel disease type 11" EXACT [DOID:0110894, MONDORULE:2]
xref: DOID:0110894 {source="MONDO:equivalentTo"}
xref: MEDGEN:393069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567154 {source="MONDO:equivalentTo"}
xref: OMIM:191390 {source="MONDO:equivalentTo", source="DOID:0110894"}
xref: Orphanet:206 {source="OMIM:191390"}
xref: Orphanet:771 {source="OMIM:191390"}
xref: UMLS:C2674051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393069"}
is_a: MONDO:0005265 {source="DOID:0110894", source="MESH:C567154", source="OMIM:191390"} ! inflammatory bowel disease

[Term]
id: MONDO:0008618
name: mesomelic dwarfism, Reinhardt-Pfeiffer type
def: "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula." [Orphanet:2634]
subset: gard_rare {source="GARD:3555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2634"}
subset: ordo_malformation_syndrome {source="Orphanet:2634"}
subset: orphanet_rare {source="Orphanet:2634"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypoplasia of ulna and fibula" RELATED [GARD:0003555]
synonym: "mesomelic dwarfism of hypoplastic ulna and fibula type" RELATED [OMIM:191400]
synonym: "mesomelic dysplasia Reinhardt-Pfeiffer type" RELATED [GARD:0003555]
synonym: "Reinhardt-Pfeiffer mesomelic dysplasia" EXACT [OMIM:191400, Orphanet:2634]
synonym: "Reinhardt-Pfeiffer syndrome" EXACT [Orphanet:2634]
synonym: "ulna and fibula, hypoplasia OF" RELATED [OMIM:191400]
xref: GARD:3555 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:2634", source="Orphanet:2634/attributed", source="Orphanet:2634/ntbt"}
xref: MEDGEN:395935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537349 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"}
xref: OMIM:191400 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"}
xref: Orphanet:2634 {source="OMIM:191400", source="MONDO:equivalentTo"}
xref: SCTID:715472000 {source="MONDO:equivalentTo"}
xref: UMLS:C1860616 {source="MEDGEN:395935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:2006832", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0023599 {source="PMID:2006832", source="https://orcid.org/0009-0001-6494-4831"} ! mesomelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008619
name: ulna metaphyseal dysplasia syndrome
def: "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." [Orphanet:1837]
subset: gard_rare {source="GARD:4740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1837"}
subset: orphanet_rare {source="Orphanet:1837"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna" RELATED [GARD:0004740]
synonym: "metaphyseal chondrodysplasia, Rosenberg type" RELATED [OMIM:191420]
synonym: "metaphyseal chondroplasia Rosenberg type" RELATED [GARD:0004740]
synonym: "Rosenberg Lohr syndrome" RELATED [GARD:0004740]
synonym: "Rosenberg-Lohr syndrome" EXACT [Orphanet:1837]
synonym: "ulna metaphyseal dysplasia syndrome" EXACT [OMIM:191420]
xref: GARD:4740 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:1837/attributed", source="Orphanet:1837/ntbt", source="Orphanet:1837"}
xref: MEDGEN:348149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536935 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"}
xref: OMIM:191420 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"}
xref: Orphanet:1837 {source="OMIM:191420", source="MONDO:equivalentTo"}
xref: SCTID:715242008 {source="MONDO:equivalentTo"}
xref: UMLS:C1860615 {source="MEDGEN:348149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="PMID:12707959", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="PMID:12707959", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome" xsd:anyURI {source="GARD:0004740"}

[Term]
id: MONDO:0008620
name: upper limb mesomelic dysplasia
def: "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity." [Orphanet:2497]
subset: gard_rare {source="GARD:2408", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2497"}
subset: ordo_malformation_syndrome {source="Orphanet:2497"}
subset: orphanet_rare {source="Orphanet:2497"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fryns Hofkens Fabry syndrome" RELATED [GARD:0002408]
synonym: "Fryns-Hofkens-Fabry syndrome" EXACT [Orphanet:2497]
synonym: "ulna hypoplasia" RELATED [Orphanet:2497]
synonym: "ulnar hypoplasia" RELATED [OMIM:191440]
synonym: "upper limb mesomelic dysplasia" EXACT [OMIM:191440]
xref: GARD:2408 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:2497/attributed", source="Orphanet:2497/ntbt", source="Orphanet:2497"}
xref: MEDGEN:1811806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538069 {source="MONDO:equivalentTo"}
xref: OMIM:191440 {source="Orphanet:2497", source="MONDO:equivalentTo", source="Orphanet:2497/e"}
xref: Orphanet:2497 {source="MONDO:equivalentTo", source="OMIM:191440"}
xref: UMLS:C5574958 {source="MEDGEN:1811806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:31591517", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0023599 {source="PMID:31591517", source="https://orcid.org/0009-0001-6494-4831"} ! mesomelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008621
name: uncombable hair syndrome
def: "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." [Orphanet:1410]
subset: gard_rare {source="GARD:5404", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1410"}
subset: orphanet_rare {source="Orphanet:1410"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cheveux incoiffables" RELATED [GARD:0005404]
synonym: "pili trianguli et canaliculi" EXACT [OMIM:191480, Orphanet:1410]
synonym: "spun glass hair" RELATED [GARD:0005404]
synonym: "uncombable hair syndrome" EXACT [OMIM:191480]
synonym: "unmanageable hair syndrome" RELATED [GARD:0005404]
xref: GARD:5404 {source="MONDO:GARD"}
xref: ICD10CM:Q84.1 {source="Orphanet:1410/attributed", source="Orphanet:1410/ntbt", source="Orphanet:1410"}
xref: MEDGEN:96596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536939 {source="Orphanet:1410", source="MONDO:equivalentTo", source="Orphanet:1410/e"}
xref: Orphanet:1410 {source="MONDO:equivalentTo", source="OMIM:191480"}
xref: SCTID:254230001 {source="MONDO:equivalentTo"}
xref: UMLS:C0432347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96596"}
is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome" xsd:anyURI {source="GARD:0005404"}

[Term]
id: MONDO:0008622
name: tricho-retino-dento-digital syndrome
def: "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." [Orphanet:1264]
subset: gard_rare {source="GARD:938", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1264"}
subset: ordo_malformation_syndrome {source="Orphanet:1264"}
subset: orphanet_rare {source="Orphanet:1264"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bork Stender Schmidt syndrome" RELATED [GARD:0000938]
synonym: "Bork syndrome" EXACT [OMIM:191482, Orphanet:1264]
synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" RELATED [OMIM:191482]
synonym: "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome" EXACT [Orphanet:1264]
xref: GARD:938 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1264", source="Orphanet:1264/attributed", source="Orphanet:1264/ntbt"}
xref: MEDGEN:348658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536576 {source="MONDO:equivalentTo"}
xref: OMIM:191482 {source="Orphanet:1264", source="MONDO:equivalentTo", source="Orphanet:1264/e"}
xref: Orphanet:1264 {source="MONDO:equivalentTo", source="OMIM:191482"}
xref: SCTID:719910004 {source="MONDO:equivalentTo"}
xref: UMLS:C1860605 {source="MEDGEN:348658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:1264"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0008623
name: Undritz anomaly
synonym: "hypersegmentation of nuclei of polymorphonuclear leukocytes" RELATED [OMIM:191500]
synonym: "Undritz anomaly" EXACT [OMIM:191500]
xref: MEDGEN:348657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566014 {source="MONDO:equivalentTo"}
xref: OMIM:191500 {source="MONDO:equivalentTo"}
xref: UMLS:C1860604 {source="MONDO:equivalentTo", source="MEDGEN:348657", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008624
name: Upington disease
def: "Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant." [Orphanet:3408]
subset: gard_rare {source="GARD:5421", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3408"}
subset: ordo_malformation_syndrome {source="Orphanet:3408"}
subset: orphanet_rare {source="Orphanet:3408"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial dyschondroplasia" RELATED [GARD:0005421]
synonym: "hip dysplasia-enchondromata-ecchondroma syndrome" EXACT [Orphanet:3408]
synonym: "Perthes-like hip disease, enchondromata, and Ecchondromata" RELATED [OMIM:191520]
synonym: "Upington disease" EXACT [OMIM:191520]
xref: GARD:5421 {source="MONDO:GARD"}
xref: ICD10CM:M91.8 {source="Orphanet:3408", source="Orphanet:3408/attributed", source="Orphanet:3408/ntbt"}
xref: MEDGEN:348145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536472 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"}
xref: OMIM:191520 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"}
xref: Orphanet:3408 {source="OMIM:191520", source="MONDO:equivalentTo"}
xref: SCTID:719041000 {source="MONDO:equivalentTo"}
xref: UMLS:C1860596 {source="MEDGEN:348145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="GARD:0005421"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="OMIM:191520"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:3408", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5421/upington-disease" xsd:anyURI {source="GARD:0005421"}

[Term]
id: MONDO:0008625
name: obsolete urate-binding globulin, decrease 1N
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "urate-binding globulin, decrease IN" RELATED [OMIM:191530]
synonym: "urate-binding globulin, decrease type 1N" EXACT [MONDORULE:4, OMIM:191530]
xref: MESH:C566013 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:191530 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008626
name: ureter, bifid or double
synonym: "ureter, bifid or double" EXACT [OMIM:191550]
xref: MEDGEN:348142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566012 {source="MONDO:equivalentTo"}
xref: OMIM:191550 {source="MONDO:equivalentTo"}
xref: UMLS:C1860586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348142"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008627
name: ureter cancer
def: "A malignant neoplasm involving the ureter" [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of ureter" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the ureter" EXACT [NCIT:C7543]
synonym: "malignant neoplasm of ureter" EXACT [MONDO:patterns/cancer, NCIT:C7543]
synonym: "malignant tumor of the ureter" EXACT [NCIT:C7543]
synonym: "malignant tumor of ureter" EXACT [DOID:11819, NCIT:C7543]
synonym: "malignant tumour of the ureter" EXACT OMO:0003005 []
synonym: "malignant tumour of ureter" EXACT OMO:0003005 []
synonym: "malignant ureter neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7543]
synonym: "malignant ureter tumor" EXACT [NCIT:C7543]
synonym: "malignant ureter tumour" EXACT OMO:0003005 []
synonym: "malignant ureteral neoplasm" EXACT [NCIT:C7543]
synonym: "malignant ureteral tumor" EXACT [DOID:11819, NCIT:C7543]
synonym: "malignant ureteral tumour" EXACT OMO:0003005 []
synonym: "ureter cancer" EXACT [MONDO:patterns/location]
synonym: "ureter, cancer OF" RELATED [OMIM:191600]
xref: DOID:11819 {source="MONDO:equivalentTo"}
xref: ICD10CM:C66 {source="MONDO:equivalentTo", source="DOID:11819"}
xref: ICD9:189.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11819"}
xref: MEDGEN:102281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014516 {source="MONDO:equivalentTo", source="DOID:11819"}
xref: NCIT:C7543 {source="MONDO:equivalentTo", source="DOID:11819"}
xref: OMIM:191600 {source="MONDO:equivalentTo", source="DOID:11819"}
xref: SCTID:154543003 {source="DOID:11819"}
xref: SCTID:363458004 {source="MONDO:equivalentTo", source="DOID:11819"}
xref: SCTID:94121005 {source="DOID:11819"}
xref: UMLS:C0153619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102281"}
is_a: MONDO:0006295 {source="DOID:11819", source="ICD10CM:C66", source="MONDO:Redundant", source="NCIT:C7543"} ! malignant urinary system neoplasm
is_a: MONDO:0021111 {source="MONDO:Redundant", source="NCIT:C7543"} ! ureter neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0008628
name: ureterocele
def: "A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ureterocele" EXACT [MONDO:ambiguous, OMIM:191650]
synonym: "ureterocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:4022 {source="MONDO:equivalentTo", source="EFO:1001227"}
xref: EFO:1001227 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000070 {source="MONDO:otherHierarchy"}
xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056433 {source="EFO:1001227"}
xref: MEDGEN:21778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014518 {source="MONDO:equivalentTo", source="EFO:1001227", source="DOID:4022"}
xref: NANDO:2200183 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123159 {source="MONDO:equivalentTo", source="DOID:4022"}
xref: OMIM:191650 {source="MONDO:equivalentTo", source="DOID:4022"}
xref: SCTID:12818004 {source="MONDO:equivalentTo", source="EFO:1001227", source="DOID:4022"}
xref: UMLS:C0041960 {source="MEDGEN:21778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001926 {source="DOID:4022", source="MESH:D014518", source="NCIT:C123159/inferred"} ! ureteral disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0006026 {source="EFO:1001227"} ! urinary bladder disorder
property_value: IAO:0000589 "ureterocele (disease)" xsd:string

[Term]
id: MONDO:0008629
name: urolithiasis, uric acid, autosomal dominant
synonym: "nephrolithiasis, uric acid, autosomal dominant" RELATED [OMIM:191700]
synonym: "urolithiasis, uric acid, autosomal dominant" EXACT [OMIM:191700]
xref: DOID:0080654 {source="MONDO:equivalentTo"}
xref: MEDGEN:393068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:191700 {source="MONDO:equivalentTo"}
xref: UMLS:C2674049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393068"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008630
name: urinary bladder, atony of
subset: otar {source="MONDO:OTAR"}
synonym: "atony of urinary bladder" EXACT [https://orcid.org/0000-0002-2825-0621]
synonym: "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" EXACT [OMIM:191800, OMIM:genemap2]
synonym: "urinary bladder, atony of" EXACT [OMIM:191800]
xref: MEDGEN:1684829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:191800 {source="MONDO:equivalentTo"}
xref: UMLS:C5231389 {source="MEDGEN:1684829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008631
name: obsolete renal agenesis
is_obsolete: true
replaced_by: MONDO:0018470

[Term]
id: MONDO:0008632
name: urticaria, aquagenic
def: "Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success." [https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria]
synonym: "aquagenic urticaria" RELATED [GARD:0010901]
synonym: "urticaria, aquagenic" EXACT [OMIM:191850]
xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562481 {source="MONDO:equivalentTo"}
xref: OMIM:191850 {source="MONDO:equivalentTo"}
xref: SCTID:89870006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263334 {source="MEDGEN:82663", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0005492 ! urticaria
intersection_of: realized_in_response_to ECTO:9000156 ! exposure to water
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria" xsd:anyURI {source="GARD:0010901"}

[Term]
id: MONDO:0008633
name: Muckle-Wells syndrome
def: "An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." [https://orcid.org/0000-0001-5208-3432, Orphanet:575]
subset: gard_rare {source="GARD:8472", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1459"}
subset: ordo_disorder {source="Orphanet:575"}
subset: orphanet_rare {source="Orphanet:575"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cryopyrin-associated periodic syndrome 2" RELATED [OMIM:191900]
synonym: "Muckle Wells syndrome" RELATED [GARD:0008472]
synonym: "MUCKLE-Wells syndrome" RELATED [OMIM:191900]
synonym: "Muckle-Wells syndrome" EXACT [MONDO:Lexical, OMIM:191900]
synonym: "MWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:191900]
synonym: "neutrophilic urticaria" EXACT [Orphanet:575]
synonym: "Uda syndrome" RELATED [OMIM:191900]
synonym: "urticaria, deafness and amyloidosis" RELATED [GARD:0008472]
synonym: "urticaria-deafness-amyloidosis syndrome" RELATED [OMIM:191900]
xref: DOID:0050854 {source="MONDO:equivalentTo"}
xref: GARD:8472 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:575/attributed", source="Orphanet:575/ntbt", source="Orphanet:575"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10064569 {source="Orphanet:575/e", source="Orphanet:575"}
xref: MEDGEN:120634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200467 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201067 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119054 {source="MONDO:equivalentTo"}
xref: NORD:1459 {source="MONDO:NORD"}
xref: OMIM:191900 {source="Orphanet:575/e", source="MONDO:equivalentTo", source="Orphanet:575"}
xref: Orphanet:575 {source="MONDO:equivalentTo", source="OMIM:191900"}
xref: SCTID:402417009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120634"}
is_a: MONDO:0000426 {source="DOID:0050854", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0016168 {source="OMIM:191900", source="Orphanet:575"} ! cryopyrin-associated periodic syndrome
is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119054", source="Orphanet:575/inferred", source="PMID:23827249"} ! autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:575", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:191900", source="Orphanet:575"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 {source="MONDO:mim2gene_medgen"} ! NLRP3

[Term]
id: MONDO:0008634
name: urticaria, familial localized heat
synonym: "urticaria, familial localized heat" EXACT [OMIM:191950]
xref: MEDGEN:395922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566011 {source="MONDO:equivalentTo"}
xref: OMIM:191950 {source="MONDO:equivalentTo"}
xref: UMLS:C1860551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395922"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005492 {source="https://orcid.org/0000-0001-5208-3432"} ! urticaria

[Term]
id: MONDO:0008635
name: uterine anomalies
synonym: "uterine anomalies" EXACT [OMIM:192000]
xref: MEDGEN:78598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562565 {source="MONDO:equivalentTo"}
xref: OMIM:192000 {source="MONDO:equivalentTo"}
xref: UMLS:C0266383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78598"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008636
name: double uterus-hemivagina-renal agenesis syndrome
def: "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." [Orphanet:3411]
subset: gard_rare {source="GARD:1910", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3411"}
subset: ordo_malformation_syndrome {source="Orphanet:3411"}
subset: orphanet_rare {source="Orphanet:3411"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Double uterus and obstructed hemivagina syndrome" EXACT [Orphanet:3411]
synonym: "Herlyn-Werner syndrome" EXACT [Orphanet:3411]
synonym: "obstructed hemivagina and ipsilateral renal anomaly" EXACT [Orphanet:3411]
synonym: "OHVIRA syndrome" EXACT [Orphanet:3411]
synonym: "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" RELATED [OMIM:192050]
synonym: "Wunderlich syndrome" EXACT [Orphanet:3411]
xref: GARD:1910 {source="MONDO:GARD"}
xref: MEDGEN:348132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566010 {source="MONDO:equivalentTo"}
xref: OMIM:192050 {source="Orphanet:3411", source="MONDO:equivalentTo", source="Orphanet:3411/e"}
xref: Orphanet:3411 {source="MONDO:equivalentTo", source="OMIM:192050"}
xref: SCTID:722431007 {source="MONDO:equivalentTo"}
xref: UMLS:C1860549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348132"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0008637
name: bifid uvula
def: "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate." [Orphanet:99771]
subset: gard_rare {source="GARD:19687", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99771"}
subset: ordo_morphological_anomaly {source="Orphanet:99771"}
subset: orphanet_rare {source="Orphanet:99771"}
subset: rare
synonym: "bifidity of the uvula" EXACT [Orphanet:99771]
synonym: "uvula, bifid" RELATED [OMIM:192100]
synonym: "uvula, cleft" RELATED [OMIM:192100]
synonym: "uvular cleft" EXACT [Orphanet:99771]
xref: GARD:19687 {source="MONDO:GARD"}
xref: ICD10CM:Q35.7 {source="Orphanet:99771/e", source="Orphanet:99771"}
xref: icd11.foundation:684398038 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99771"}
xref: MEDGEN:1646931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:192100 {source="MONDO:equivalentTo"}
xref: Orphanet:99771 {source="MONDO:equivalentTo"}
xref: SCTID:18910001 {source="MONDO:equivalentTo"}
xref: UMLS:C4551488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646931"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016064 {source="Orphanet:99771"} ! cleft palate

[Term]
id: MONDO:0008638
name: varicose disease
def: "A vascular disease characterized by the presence of enlarged and tortuous veins." [HP:0002619, Wikipedia:Varices]
subset: otar {source="MONDO:OTAR"}
synonym: "varices" NARROW [DOID:799, Wikipedia:Varices]
synonym: "varicose veins" NARROW [NCIT:C35114, OMIM:192200, Wikipedia:Varicose_veins]
synonym: "varix" EXACT [DOID:799, Wikipedia:Varices]
synonym: "Venous ectasia" EXACT [DOID:799]
synonym: "Venous varices" EXACT [DOID:799]
xref: DOID:799 {source="MONDO:equivalentTo"}
xref: ICD10CM:I83.90 {source="DOID:799"}
xref: ICD9:454.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:456.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014648 {source="DOID:799", source="MONDO:equivalentTo"}
xref: NCIT:C35114 {source="DOID:799", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: OMIM:192200 {source="DOID:799", source="MONDO:equivalentTo"}
xref: SCTID:128060009 {source="DOID:799", source="MONDO:equivalentTo"}
xref: SCTID:12856003 {source="DOID:799"}
xref: SCTID:155468006 {source="DOID:799"}
xref: SCTID:155482006 {source="DOID:799"}
xref: SCTID:234053000 {source="DOID:799"}
xref: SCTID:266331000 {source="DOID:799"}
xref: SCTID:276504003 {source="DOID:799"}
xref: SCTID:399989005 {source="DOID:799"}
xref: UMLS:C0042345 {source="MEDGEN:21827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004634 {source="DOID:799"} ! vein disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_arises_from_feature HP:0002619 ! Varicose veins
relationship: disease_has_basis_in_dysfunction_of UBERON:0001638 ! vein

[Term]
id: MONDO:0008639
name: vascular helix of umbilical cord
synonym: "vascular helix of umbilical cord" EXACT [OMIM:192300]
xref: MEDGEN:349836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:192300 {source="MONDO:equivalentTo"}
xref: UMLS:C1860520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349836"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008640
name: vasculitis, lymphocytic, nodular
def: "Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis." [GARD:0006941]
subset: gard_rare {source="GARD:6941", source="MONDO:GARD"}
subset: rare
synonym: "lymphocytic vasculitis" RELATED [GARD:0006941]
synonym: "vasculitis lymphocytic, nodular" RELATED [GARD:0006941]
synonym: "vasculitis, lymphocytic, nodular" EXACT [OMIM:192310]
xref: GARD:6941 {source="MONDO:GARD"}
xref: MEDGEN:348635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566008 {source="MONDO:equivalentTo"}
xref: OMIM:192310 {source="GARD:0006941", source="MONDO:equivalentTo"}
xref: UMLS:C1860519 {source="MONDO:equivalentTo", source="MEDGEN:348635", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_has_basis_in_dysfunction_of CL:0000542 ! lymphocyte
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis" xsd:anyURI {source="GARD:0006941"}

[Term]
id: MONDO:0008641
name: retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
def: "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." [Orphanet:247691]
comment: Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1
subset: gard_rare {source="GARD:1217", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1910"}
subset: ordo_disorder {source="Orphanet:247691"}
subset: orphanet_rare {source="Orphanet:247691"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADRVCL" RELATED ABBREVIATION [GARD:0001217]
synonym: "autosomal dominant retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217]
synonym: "cerebroretinal vasculopathy" RELATED [Orphanet:3421, PMID:3174024]
synonym: "cerebroretinal vasculopathy, hereditary" RELATED [GARD:0001217, OMIM:192315]
synonym: "CRV" RELATED ABBREVIATION [GARD:0001217]
synonym: "grand Kaine fulling syndrome" RELATED [GARD:0002558]
synonym: "grand-Kaine-fulling syndrome" RELATED [Orphanet:3421, PMID:3174024]
synonym: "hereditary vascular retinopathy" EXACT [GARD:0010535]
synonym: "HVR" RELATED ABBREVIATION [GARD:0010535]
synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT [Orphanet:247691]
synonym: "retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217]
synonym: "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena" RELATED [GARD:0001217, OMIM:192315]
synonym: "RVCL" EXACT ABBREVIATION [GARD:0001217, MONDO:Lexical, OMIM:192315, Orphanet:247691]
synonym: "RVCL-S" EXACT [Orphanet:247691]
synonym: "vasculopathy, retinal, with cerebral leukodystrophy" RELATED [MONDO:Lexical, OMIM:192315]
synonym: "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" EXACT [OMIM:192315, OMIM:genemap2]
xref: DOID:0111567 {source="MONDO:equivalentTo"}
xref: GARD:1217 {source="MONDO:GARD"}
xref: icd11.foundation:554838792 {source="MONDO:equivalentTo", source="Orphanet:247691", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:348124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566007 {source="MONDO:equivalentTo"}
xref: NORD:1910 {source="MONDO:NORD"}
xref: OMIM:192315 {source="Orphanet:247691/e", source="MONDO:equivalentTo", source="GARD:0010535", source="GARD:0001217", source="Orphanet:247691"}
xref: Orphanet:247691 {source="OMIM:192315", source="MONDO:equivalentTo", source="GARD:0001217"}
xref: Orphanet:3421 {source="OMIM:192315", source="MONDO:obsolete"}
xref: Orphanet:63261 {source="OMIM:192315"}
xref: Orphanet:71291 {source="OMIM:192315", source="GARD:0010535"}
xref: SCTID:720854004 {source="MONDO:equivalentTo"}
xref: SCTID:721141004 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1860518 {source="MEDGEN:348124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0002311 ! retinal vascular disorder
is_a: MONDO:0019118 {source="Orphanet:247691"} ! inherited retinal dystrophy
is_a: MONDO:0700256 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! TREX1-related type 1 interferonopathy
is_a: MONDO:0957408 {source="Orphanet:247691", source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy
relationship: excluded_subClassOf MONDO:0019723 {source="Orphanet:247691", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disease of glomerular basement membrane
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 {source="MONDO:mim2gene_medgen"} ! TREX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy" xsd:anyURI {source="GARD:0010535"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy" xsd:anyURI {source="GARD:0001217"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome" xsd:anyURI {source="GARD:0002558"}

[Term]
id: MONDO:0008642
name: VACTERL/vater association
def: "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." [Orphanet:887]
subset: gard_rare {source="GARD:5443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1818"}
subset: ordo_disorder {source="Orphanet:887"}
subset: ordo_malformation_syndrome {source="Orphanet:887"}
subset: orphanet_rare {source="Orphanet:887"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "VACTERL Association" EXACT [NORD:1818]
synonym: "VACTERL association" EXACT [MONDO:0002007, Orphanet:887]
synonym: "VATER association" EXACT [Orphanet:887]
synonym: "VATER syndrome" RELATED [DOID:14679]
synonym: "VATER/VACTERL association" RELATED [OMIM:192350]
synonym: "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome" EXACT [NCIT:C99105]
xref: DOID:14679 {source="MONDO:equivalentTo"}
xref: GARD:5443 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="DOID:14679", source="Orphanet:887/inclusion", source="Orphanet:887", source="Orphanet:887/ntbt"}
xref: icd11.foundation:1452617987 {source="Orphanet:887", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10053665 {source="Orphanet:887", source="Orphanet:887/e"}
xref: MedDRA:10066022 {source="Orphanet:887", source="Orphanet:887/e"}
xref: MEDGEN:902479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536495 {source="Orphanet:887", source="Orphanet:887/e"}
xref: MESH:C536534 {source="DOID:14679", source="Orphanet:887", source="Orphanet:887/e"}
xref: NANDO:1200657 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200983 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99105 {source="MONDO:equivalentTo"}
xref: NORD:1818 {source="MONDO:NORD"}
xref: OMIM:192350 {source="DOID:14679", source="Orphanet:887", source="MONDO:equivalentTo", source="Orphanet:887/e"}
xref: Orphanet:887 {source="MONDO:equivalentTo", source="OMIM:192350"}
xref: SCTID:205830006 {source="DOID:14679"}
xref: SCTID:27742002 {source="DOID:14679", source="MONDO:equivalentTo"}
xref: UMLS:C4225671 {source="MEDGEN:902479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:14679", source="MONDO:Redundant", source="NCIT:C99105"} ! syndromic disease

[Term]
id: MONDO:0008643
name: veins, pattern of, on anterior thorax
synonym: "veins, pattern of, on anterior thorax" EXACT [OMIM:192400]
xref: MEDGEN:348117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:192400 {source="MONDO:equivalentTo"}
xref: UMLS:C1860490 {source="MEDGEN:348117", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008644
name: velocardiofacial syndrome
def: "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." [DOID:12583, PMID:PMID%3A+19243607]
subset: gard_rare {source="GARD:15123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "22q11 deletion syndrome" EXACT [DOID:12583]
synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:192430]
synonym: "deletion 22q11.2 syndrome" EXACT [DOID:12583]
synonym: "Shprintzen syndrome" RELATED [DOID:12583, ICD9CM:758.32, PMID:18636631]
synonym: "Shprintzen VCF syndrome" EXACT [OMIM:192430]
synonym: "VCF syndrome" EXACT [OMIM:192430]
synonym: "VCF-velocardiofacial syndrome" EXACT [DOID:12583]
synonym: "velocardiofacial syndrome" EXACT CLINGEN_LABEL [OMIM:192430]
xref: DOID:12583 {source="MONDO:equivalentTo"}
xref: GARD:15123 {source="MONDO:GARD"}
xref: ICD10CM:Q93.81 {source="DOID:12583"}
xref: ICD9:758.32 {source="DOID:12583"}
xref: MEDGEN:65085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004062 {source="DOID:12583", source="MONDO:directSiblingOf"}
xref: NANDO:1200339 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200688 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200712 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:192430 {source="MONDO:equivalentTo", source="DOID:12583"}
xref: Orphanet:567 {source="OMIM:192430"}
xref: SCTID:205642004 {source="DOID:12583"}
xref: SCTID:83092002 {source="DOID:12583"}
xref: UMLS:C0220704 {source="MEDGEN:65085", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DOID:12583"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0018923 {source="Orphanet:567/btnt"} ! 22q11.2 deletion syndrome

[Term]
id: MONDO:0008645
name: ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
def: "This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence." [Orphanet:3201]
subset: gard_rare {source="GARD:5472", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3201"}
subset: ordo_malformation_syndrome {source="Orphanet:3201"}
subset: orphanet_rare {source="Orphanet:3201"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Stoll-Kieny-Dott syndrome" EXACT [Orphanet:3201]
synonym: "ventricular extrasystoles perodactyly Robin sequence" RELATED [GARD:0005472]
synonym: "ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence" RELATED [GARD:0005472]
synonym: "ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence" RELATED [OMIM:192445]
xref: GARD:5472 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3201/attributed", source="Orphanet:3201/ntbt", source="Orphanet:3201"}
xref: MEDGEN:395493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537497 {source="MONDO:equivalentTo"}
xref: OMIM:192445 {source="Orphanet:3201", source="MONDO:equivalentTo", source="Orphanet:3201/e"}
xref: Orphanet:3201 {source="OMIM:192445", source="MONDO:equivalentTo"}
xref: SCTID:719823007 {source="MONDO:equivalentTo"}
xref: UMLS:C1860471 {source="MEDGEN:395493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3201"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0008646
name: obsolete long QT syndrome 1
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2330" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100316

[Term]
id: MONDO:0008647
name: hypertrophic cardiomyopathy 1
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "asymmetric septal Hypertrophy" RELATED [OMIM:192600]
synonym: "cardiomyopathy, familial hypertrophic 1" EXACT [DOID:0110307]
synonym: "cardiomyopathy, familial hypertrophic, 1" RELATED [MONDO:Lexical, OMIM:192600]
synonym: "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant" EXACT [OMIM:192600, OMIM:genemap2]
synonym: "cardiomyopathy, familial hypertrophic, type 1" EXACT [MONDORULE:1, OMIM:192600]
synonym: "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant" EXACT [OMIM:192600, OMIM:genemap2]
synonym: "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant" EXACT [OMIM:192600, OMIM:genemap2]
synonym: "Cmh" RELATED [OMIM:192600]
synonym: "CMH1" EXACT ABBREVIATION [DOID:0110307, MONDO:Lexical, OMIM:192600]
synonym: "hypertrophic cardiomyopathy 1" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in MYH7" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 1" EXACT [DOID:0110307, MONDORULE:1]
synonym: "hypertrophic subaortic stenosis, idiopathic" RELATED [OMIM:192600]
synonym: "MYH7 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ventricular Hypertrophy, hereditary" RELATED [OMIM:192600]
xref: DOID:0110307 {source="MONDO:equivalentTo"}
xref: MEDGEN:501195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:192600 {source="DOID:0110307", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:192600"}
xref: UMLS:C3495498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501195"}
is_a: MONDO:0005045 {source="DOID:0110307", source="MONDO:0020484-obsoleted", source="MONDO:Redundant", source="OMIM:192600"} ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 {source="MONDO:0020484-obsoleted"} ! heart disorder
is_a: MONDO:0024573 {source="MONDO:OMIM", source="MONDO:Redundant", source="OMIM:192600"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 ! MYH7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008648
name: ventricular tachycardia, familial
def: "An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:2263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial ventricular tachycardia" RELATED [GARD:0002263]
synonym: "hereditary ventricular tachycardia" EXACT [MONDO:patterns/hereditary]
synonym: "ventricular tachycardia, familial" EXACT [OMIM:192605]
synonym: "ventricular tachycardia, familial polymorphic" RELATED [OMIM:192605]
synonym: "ventricular tachycardia, idiopathic" EXACT [OMIM:192605, OMIM:genemap2]
xref: GARD:2263 {source="MONDO:GARD"}
xref: MEDGEN:83309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:192605 {source="MONDO:equivalentTo"}
xref: SCTID:233906007 {source="MONDO:equivalentTo"}
xref: UMLS:C0340485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83309"}
is_a: MONDO:0005477 {source="MONDO:Redundant", source="OMIM:192605"} ! ventricular tachycardia
intersection_of: MONDO:0005477 ! ventricular tachycardia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4385 {source="MONDO:mim2gene_medgen"} ! GNAI2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008649
name: venular insufficiency, systemic
synonym: "venular insufficiency, systemic" EXACT [OMIM:192700]
xref: MEDGEN:348623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566004 {source="MONDO:equivalentTo"}
xref: OMIM:192700 {source="MONDO:equivalentTo"}
xref: UMLS:C1860465 {source="MEDGEN:348623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008650
name: posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
def: "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." [Orphanet:2064]
subset: gard_rare {source="GARD:2276", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2064"}
subset: ordo_malformation_syndrome {source="Orphanet:2064"}
subset: orphanet_rare {source="Orphanet:2064"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ptosis and posterior fusion of lumbosacral vertebrae" RELATED [GARD:0005487]
synonym: "familial posterior lumbosacral vertebral fusion and eyelid ptosis" RELATED [GARD:0005487]
synonym: "Faulk Epstein Jones syndrome" RELATED [GARD:0002276]
synonym: "Faulk-Epstein-Jones syndrome" EXACT [Orphanet:2064]
synonym: "vertebral fusion posterior lumbosacral blepharoptosis" RELATED [GARD:0005487]
synonym: "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" RELATED [OMIM:192800]
xref: GARD:2276 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2064/attributed", source="Orphanet:2064/ntbt", source="Orphanet:2064"}
xref: MEDGEN:348108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536344 {source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"}
xref: OMIM:192800 {source="GARD:0002276", source="Orphanet:2064/e", source="MONDO:equivalentTo", source="Orphanet:2064"}
xref: Orphanet:1983 {source="GARD:0002276"}
xref: Orphanet:2064 {source="OMIM:192800", source="MONDO:equivalentTo"}
xref: SCTID:724064004 {source="MONDO:equivalentTo"}
xref: UMLS:C1860464 {source="MEDGEN:348108", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2064"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2064", source="Orphanet:2064/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome" xsd:anyURI {source="GARD:0002276"}

[Term]
id: MONDO:0008651
name: vertebral hypoplasia with lumbar kyphosis
synonym: "vertebral hypoplasia with lumbar kyphosis" EXACT [OMIM:192900]
xref: MEDGEN:348622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566002 {source="MONDO:equivalentTo"}
xref: OMIM:192900 {source="MONDO:equivalentTo"}
xref: UMLS:C1860463 {source="MEDGEN:348622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008652
name: congenital vertical talus
def: "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." [Orphanet:178382]
subset: gard_rare {source="GARD:5488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178382"}
subset: ordo_morphological_anomaly {source="Orphanet:178382"}
subset: orphanet_rare {source="Orphanet:178382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease, foot deformity of" EXACT [OMIM:192950, OMIM:genemap2]
synonym: "congenital convex foot" EXACT [Orphanet:178382]
synonym: "congenital convex pes valgus" EXACT [Orphanet:178382]
synonym: "congenital rocker-bottom foot" EXACT [Orphanet:178382]
synonym: "CVT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:192950]
synonym: "pes valgus, congenital convex" RELATED [OMIM:192950]
synonym: "rocker bottom foot" RELATED [GARD:0005488]
synonym: "rocker-bottom foot" RELATED [OMIM:192950]
synonym: "rocker-bottom foot deformity" RELATED [GARD:0005488]
synonym: "vertical talus" RELATED [GARD:0005488]
synonym: "vertical talus, congenital" RELATED [GARD:0005488, MONDO:Lexical, OMIM:192950]
xref: DOID:0111568 {source="MONDO:equivalentTo"}
xref: GARD:5488 {source="MONDO:GARD"}
xref: ICD10CM:Q66.8 {source="Orphanet:178382/ntbt", source="Orphanet:178382/inclusion", source="Orphanet:178382"}
xref: icd11.foundation:1525079646 {source="MONDO:equivalentTo", source="Orphanet:178382"}
xref: ICD9:755.67 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10066242 {source="Orphanet:178382/e", source="Orphanet:178382"}
xref: MEDGEN:66821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536345 {source="MONDO:equivalentTo"}
xref: OMIM:192950 {source="Orphanet:178382/e", source="MONDO:equivalentTo", source="Orphanet:178382"}
xref: Orphanet:178382 {source="OMIM:192950", source="MONDO:equivalentTo"}
xref: SCTID:205082007 {source="MONDO:equivalentTo"}
xref: UMLS:C0240912 {source="MEDGEN:66821", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017427 {source="Orphanet:178382"} ! congenital deformities of limbs
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5133 {source="MONDO:mim2gene_medgen"} ! HOXD10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus" xsd:anyURI {source="GARD:0005488"}

[Term]
id: MONDO:0008653
name: vesicoureteral reflux 1
subset: gard_rare {source="GARD:18418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Vesicoureteral reflux" EXACT [OMIM:193000, OMIM:genemap2]
synonym: "vesicoureteral reflux 1" EXACT [MONDO:Lexical, OMIM:193000]
synonym: "VUR" RELATED ABBREVIATION [OMIM:193000]
synonym: "VUR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193000]
xref: GARD:18418 {source="MONDO:GARD"}
xref: MEDGEN:1644868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:193000 {source="MONDO:equivalentTo"}
xref: Orphanet:289365 {source="OMIM:193000"}
xref: UMLS:C4551858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644868"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0017329 {source="DC-OMIM:193000", source="MONDO:Redundant", source="OMIM:193000"} ! familial vesicoureteral reflux
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008654
name: spinocerebellar ataxia 27A
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "NYS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193003]
synonym: "NYSTAGMUS 4, congenital, autosomal dominant" EXACT [MONDO:Lexical, OMIM:193003]
synonym: "nystagmus 4, congenital, autosomal dominant" EXACT [OMIM:193003]
synonym: "vestibulocerebellar disorder with predominant ocular signs" RELATED [OMIM:193003]
xref: MESH:C537856 {source="MONDO:equivalentTo"}
xref: OMIM:193003 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:193003"}
is_a: MONDO:0005712 {source="MESH:C537856"} ! congenital nystagmus
is_a: MONDO:0020380 {source="OMIM:193003"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0008655
name: vestibulocochlear dysfunction, progressive
synonym: "familial progressive vestibulocochlear dysfunction" RELATED [GARD:0005489]
synonym: "vestibulocochlear dysfunction, progressive" EXACT [OMIM:193005]
xref: MEDGEN:419730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536346 {source="MONDO:equivalentTo"}
xref: OMIM:193005 {source="MONDO:equivalentTo"}
xref: Orphanet:1767 {source="OMIM:193005"}
xref: UMLS:C2931176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419730"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive" xsd:anyURI {source="GARD:0005489"}

[Term]
id: MONDO:0008656
name: obsolete benign paroxysmal positional nystagmus
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2686" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:8000018

[Term]
id: MONDO:0008657
name: obsolete vibratory angioedema
comment: OMIM obsoleted this term and merged it with autosomal dominant vibratory urticaria.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1684" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007447

[Term]
id: MONDO:0008658
name: obsolete virus Rd114 RNA Complementarity
synonym: "virus Rd114 RNA Complementarity" EXACT [OMIM:193070]
xref: OMIM:193070 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6353" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008659
name: transcobalamin I deficiency
subset: gard_rare {source="GARD:4522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2967"}
subset: orphanet_rare {source="Orphanet:2967"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cobalamin Pseudodeficiency due to transcobalamin deficiency" RELATED [OMIM:193090]
synonym: "cobalamin R Binder Protein deficiency" RELATED [OMIM:193090]
synonym: "Haptocorrin deficiency" EXACT [Orphanet:2967]
synonym: "R Binder deficiency with lactoferrin deficiency" RELATED [OMIM:193090]
synonym: "TCI deficiency" EXACT [Orphanet:2967]
synonym: "Tcn1 deficiency" RELATED [OMIM:193090]
synonym: "transcobalamin 1 deficiency" RELATED [GARD:0005239]
synonym: "transcobalamin 1 deficiency with lactoferrin deficiency" RELATED [OMIM:193090]
synonym: "transcobalamin I deficiency" EXACT [OMIM:193090]
synonym: "transcobalamin-1 deficiency" EXACT [Orphanet:2967]
xref: GARD:4522 {source="MONDO:GARD"}
xref: ICD10CM:E53.8 {source="Orphanet:2967/attributed", source="Orphanet:2967/ntbt", source="Orphanet:2967"}
xref: MEDGEN:90993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562798 {source="MONDO:equivalentTo"}
xref: OMIM:193090 {source="Orphanet:2967/e", source="MONDO:equivalentTo", source="Orphanet:2967"}
xref: Orphanet:2967 {source="OMIM:193090", source="MONDO:equivalentTo"}
xref: SCTID:237933007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342700 {source="MEDGEN:90993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019220 {source="Orphanet:2967"} ! inborn disorder of cobalamin metabolism and transport
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency" xsd:anyURI {source="GARD:0005239"}

[Term]
id: MONDO:0008660
name: autosomal dominant hypophosphatemic rickets
def: "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." [Orphanet:89937]
subset: gard_rare {source="GARD:16781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:89937"}
subset: orphanet_rare {source="Orphanet:89937"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADHR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193100, Orphanet:89937]
synonym: "autosomal dominant hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant hypophosphatemia" EXACT [Orphanet:89937]
synonym: "autosomal dominant hypophosphatemic rickets" EXACT CLINGEN_LABEL []
synonym: "hereditary hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "hypophosphatemia, autosomal dominant" RELATED [OMIM:193100]
synonym: "hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_dominant, OMIM:193100]
synonym: "vitamin D-resistant rickets, autosomal dominant" RELATED [OMIM:193100]
xref: DOID:0050948 {source="MONDO:equivalentTo"}
xref: GARD:16781 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89937", source="Orphanet:89937/attributed", source="Orphanet:89937/ntbt"}
xref: MEDGEN:83346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562791 {source="MONDO:equivalentTo"}
xref: OMIM:193100 {source="MONDO:equivalentTo", source="Orphanet:89937", source="DOID:0050948", source="Orphanet:89937/e"}
xref: Orphanet:89937 {source="MONDO:equivalentTo", source="OMIM:193100"}
xref: SCTID:237889002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342642 {source="MEDGEN:83346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000044 {source="DC-OMIM:193100", source="MONDO:Redundant", source="OMIM:193100", source="Orphanet:89937"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005520 {source="DOID:0050948", source="MESH:C562791", source="MESH:C562791/inferred", source="MONDO:Redundant"} ! rickets
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:193100", source="Orphanet:89937"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3680 {source="MONDO:mim2gene_medgen"} ! FGF23
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008661
name: vitiligo
def: "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
xref: DOID:12306 {source="MONDO:equivalentTo", source="EFO:0004208"}
xref: EFO:0004208 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L80 {source="DOID:12306", source="MONDO:equivalentTo"}
xref: ICD9:709.01 {source="DOID:12306", source="EFO:0004208"}
xref: MEDGEN:22677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014820 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"}
xref: NCIT:C26915 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"}
xref: Orphanet:247871 {source="MONDO:equivalentObsolete", source="OMIM:193200"}
xref: SCTID:156437000 {source="DOID:12306"}
xref: SCTID:56727007 {source="DOID:12306", source="EFO:0004208"}
xref: UMLS:C0042900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22677"}
is_a: MONDO:0002406 {source="NCIT:C26915"} ! dermatitis
is_a: MONDO:0005093 {source="EFO:0004208", source="MESH:D014820/inferred", source="MONDO:Redundant", source="NCIT:C26915/inferred", source="OMIM:193200/inferred"} ! skin disorder
is_a: MONDO:0007179 {source="DC-OMIM:193200", source="DOID:12306", source="EFO:0004208", source="MONDO:Redundant", source="OMIM:193200"} ! autoimmune disease

[Term]
id: MONDO:0008662
name: autosomal dominant vitreoretinochoroidopathy
def: "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." [Orphanet:3086]
subset: gard_rare {source="GARD:5507", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3086"}
subset: orphanet_rare {source="Orphanet:3086"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADVIRC" EXACT ABBREVIATION [Orphanet:3086]
synonym: "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma" RELATED [OMIM:193220]
synonym: "vitreoretinochoroidopathy" RELATED [MONDO:Lexical, OMIM:193220]
synonym: "vitreoretinochoroidopathy dominant" RELATED [GARD:0005507]
synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" RELATED [OMIM:193220]
synonym: "vitreoretinochoroidopathy, autosomal dominant" RELATED [OMIM:193220]
synonym: "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" RELATED [OMIM:193220]
synonym: "VRCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193220]
synonym: "VRCP autosomal dominant" RELATED [GARD:0005507]
xref: DOID:0111569 {source="MONDO:equivalentTo"}
xref: GARD:5507 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:3086/attributed", source="Orphanet:3086/ntbt", source="Orphanet:3086"}
xref: MEDGEN:854768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536352 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"}
xref: OMIM:193220 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"}
xref: Orphanet:263347 {source="OMIM:193220"}
xref: Orphanet:3086 {source="MONDO:equivalentTo", source="OMIM:193220"}
xref: SCTID:711162004 {source="MONDO:equivalentTo"}
xref: UMLS:C3888099 {source="MEDGEN:854768", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020248 {source="Orphanet:3086"} ! vitreoretinal degeneration
is_a: MONDO:0700240 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1-related vitreoretinochoroidopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0008663
name: snowflake vitreoretinal degeneration
def: "Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36." [Orphanet:91496]
subset: gard_rare {source="GARD:9706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91496"}
subset: orphanet_rare {source="Orphanet:91496"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "snowflake degeneration in hereditary vitreoretinal degeneration" RELATED [GARD:0009706]
synonym: "snowflake vitreoretinal degeneration" EXACT [OMIM:193230]
synonym: "SVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193230]
synonym: "vitreoretinal degeneration, snowflake type" RELATED [GARD:0009706, MONDO:Lexical, OMIM:193230]
xref: DOID:0111570 {source="MONDO:equivalentTo"}
xref: GARD:9706 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:91496/attributed", source="Orphanet:91496/ntbt", source="MONDO:relatedTo", source="Orphanet:91496"}
xref: MEDGEN:395476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536677 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"}
xref: OMIM:193230 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"}
xref: Orphanet:91496 {source="MONDO:equivalentTo", source="OMIM:193230"}
xref: UMLS:C1860405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395476"}
is_a: MONDO:0020248 {source="Orphanet:91496"} ! vitreoretinal degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6259 {source="MONDO:mim2gene_medgen"} ! KCNJ13
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration" xsd:anyURI {source="GARD:0009706"}

[Term]
id: MONDO:0008664
name: obsolete autosomal dominant neovascular inflammatory vitreoretinopathy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3110" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006928

[Term]
id: MONDO:0008665
name: ptosis-vocal cord paralysis syndrome
def: "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983." [Orphanet:2997]
subset: gard_rare {source="GARD:427", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2997"}
subset: ordo_malformation_syndrome {source="Orphanet:2997"}
subset: orphanet_rare {source="Orphanet:2997"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital bilateral recurrent nerve paralysis and ptosis" RELATED [GARD:0000427]
synonym: "ptosis vocal cord paralysis" RELATED [GARD:0000427]
synonym: "tucker syndrome" EXACT [Orphanet:2997]
synonym: "vocal cord paralysis and ptosis" RELATED [OMIM:193240]
xref: GARD:427 {source="MONDO:GARD"}
xref: MEDGEN:349807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536923 {source="MONDO:equivalentTo"}
xref: OMIM:193240 {source="MONDO:equivalentTo", source="Orphanet:2997", source="Orphanet:2997/e"}
xref: Orphanet:2997 {source="MONDO:equivalentTo", source="OMIM:193240"}
xref: UMLS:C1860403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349807"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0008666
name: volvulus of midgut
def: "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction." [NCIT:C98961]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital malrotation of intestine" EXACT [NCIT:C98961]
synonym: "intestinal malrotation" EXACT [NCIT:C98961]
synonym: "intestinal malrotation, familial" RELATED [OMIM:193250]
synonym: "volvulus of midgut" EXACT [OMIM:193250]
xref: MEDGEN:113153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562456 {source="MONDO:equivalentTo"}
xref: NCIT:C98961 {source="MONDO:equivalentTo"}
xref: OMIM:193250 {source="MONDO:equivalentTo"}
xref: Orphanet:2454 {source="OMIM:193250"}
xref: SCTID:458422009 {source="MONDO:equivalentTo"}
xref: UMLS:C0221210 {source="MEDGEN:113153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008667
name: von Hippel-Lindau disease
def: "A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." [https://orcid.org/0000-0001-5208-3432, Orphanet:892]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7855", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1830"}
subset: ordo_disorder {source="Orphanet:892"}
subset: orphanet_rare {source="Orphanet:892"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebroretinal angiomatosis" EXACT [NCIT:C3105]
synonym: "familial cerebelloretinal angiomatosis" EXACT [Orphanet:892]
synonym: "Hippel Lindau syndrome" EXACT [DOID:14175]
synonym: "Lindau disease" EXACT [Orphanet:892]
synonym: "VHL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193300, Orphanet:892]
synonym: "VHL syndrome" RELATED [GARD:0007855]
synonym: "Von Hippel Lindau disease" RELATED [GARD:0007855]
synonym: "von Hippel-Lindau disease" EXACT CLINGEN_LABEL []
synonym: "Von Hippel-Lindau syndrome" EXACT [MONDO:Lexical, OMIM:193300, Orphanet:892]
synonym: "von Hippel-Lindau syndrome" EXACT [DOID:14175]
synonym: "Von Hippel-Lindau syndrome (VHL)" EXACT [DOID:14175, NCIT:C3105]
synonym: "von Hippel-Lindau syndrome, modifier of" EXACT [OMIM:193300, OMIM:genemap2]
synonym: "Von Hippel-Lindau syndrome, Modifiers of" RELATED [OMIM:193300]
xref: DOID:14175 {source="MONDO:equivalentTo"}
xref: GARD:7855 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="DOID:14175", source="Orphanet:892/ntbt", source="Orphanet:892/inclusion", source="Orphanet:892"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10047716 {source="Orphanet:892/e", source="Orphanet:892"}
xref: MEDGEN:42458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006623 {source="Orphanet:892/e", source="DOID:14175", source="MONDO:equivalentTo", source="Orphanet:892"}
xref: NANDO:2200408 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200829 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3105 {source="DOID:14175", source="MONDO:equivalentTo"}
xref: NORD:1830 {source="MONDO:NORD"}
xref: OMIM:193300 {source="Orphanet:892/e", source="DOID:14175", source="MONDO:equivalentTo", source="Orphanet:892"}
xref: Orphanet:892 {source="MONDO:equivalentTo", source="OMIM:193300"}
xref: SCTID:46659004 {source="DOID:14175", source="MONDO:equivalentTo"}
xref: UMLS:C0019562 {source="MEDGEN:42458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0042983 {source="MESH:D006623", source="NCIT:C3105", source="Wikipedia:Phakomatosis"} ! neurocutaneous syndrome
relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015079 {source="Orphanet:892", source="https://orcid.org/0000-0001-5208-3432"} ! multiple polyglandular tumor
relationship: excluded_subClassOf MONDO:0015953 {source="Orphanet:892", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic central nervous system and retinal vascular disease
relationship: excluded_subClassOf MONDO:0016756 {source="Orphanet:892", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited nervous system cancer-predisposing syndrome
relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:892", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited renal cancer-predisposing syndrome
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:892", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: excluded_subClassOf MONDO:0019755 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0020676 {source="Orphanet:892", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of central nervous system or retinal vasculature
relationship: excluded_subClassOf MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease" xsd:anyURI {source="GARD:0007855"}

[Term]
id: MONDO:0008668
name: von Willebrand disease 1
def: "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." [Orphanet:166078]
subset: gard_rare {source="GARD:17019", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "von Willebrand disease 1" EXACT CLINGEN_LABEL []
synonym: "von Willebrand disease type 1" EXACT [DOID:0060573]
synonym: "von Willebrand disease type I" EXACT [DOID:0060573]
synonym: "VON WILLEBRAND disease, type 1" RELATED [MONDO:Lexical, OMIM:193400]
synonym: "Von Willebrand disease, type 1" RELATED [OMIM:193400]
synonym: "von willebrand's disease 1" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "von Willebrand's disease type 1" EXACT [DOID:0060573, MONDORULE:1]
synonym: "VWD type 1" EXACT [DOID:0060573]
synonym: "VWD, type 1" RELATED [OMIM:193400]
synonym: "VWD1" EXACT ABBREVIATION [DOID:0060573, MONDO:Lexical, OMIM:193400]
xref: DOID:0060573 {source="MONDO:equivalentTo"}
xref: GARD:17019 {source="MONDO:GARD"}
xref: ICD10CM:D68.0 {source="Orphanet:166078/attributed", source="Orphanet:166078/ntbt", source="DOID:0060573", source="Orphanet:166078"}
xref: MEDGEN:220393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056725 {source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="Orphanet:166078/e"}
xref: NCIT:C131685 {source="MONDO:equivalentTo"}
xref: OMIM:193400 {source="DOID:0060573", source="Orphanet:166078", source="MONDO:equivalentTo", source="Orphanet:166078/e"}
xref: Orphanet:166078 {source="OMIM:193400", source="MONDO:equivalentTo"}
xref: Orphanet:903 {source="OMIM:193400"}
xref: SCTID:128106003 {source="MONDO:equivalentTo"}
xref: UMLS:C1264039 {source="MEDGEN:220393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019565 {source="DC-OMIM:193400", source="DOID:0060573", source="MESH:D056725", source="NCIT:C131685", source="Orphanet:166078"} ! hereditary von Willebrand disease
is_a: MONDO:0024574 {source="MESH:D056725", source="NCIT:C131685"} ! von Willebrand disease (hereditary or acquired)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12726 {source="MONDO:mim2gene_medgen"} ! VWF

[Term]
id: MONDO:0008669
name: vulvovaginitis, allergic seminal
synonym: "vulvovaginitis, allergic seminal" EXACT [OMIM:193450]
xref: MEDGEN:348089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565993 {source="MONDO:equivalentTo"}
xref: OMIM:193450 {source="MONDO:equivalentTo"}
xref: UMLS:C1860357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348089"}
is_a: MONDO:0005271 {source="OMIM:193450", source="https://orcid.org/0000-0001-5208-3432"} ! allergic disease
is_a: MONDO:0007019 {source="OMIM:193450", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-7463-6306"} ! vulvovaginitis
relationship: realized_in_response_to_stimulus UBERON:0006530 {source="https://orcid.org/0000-0001-5208-3432"} ! seminal fluid

[Term]
id: MONDO:0008670
name: Waardenburg syndrome type 1
def: "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." [Orphanet:894]
subset: gard_rare {source="GARD:5519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:894"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Waardenburg syndrome type 1" EXACT CLINGEN_LABEL []
synonym: "Waardenburg syndrome type I" EXACT [DOID:0110948, Orphanet:894]
synonym: "Waardenburg syndrome with dystopia canthorum" RELATED [OMIM:193500]
synonym: "Waardenburg syndrome, type 1" RELATED [MONDO:Lexical, OMIM:193500]
synonym: "Waardenburg's syndrome type 1" RELATED [GARD:0005519]
synonym: "WS1" EXACT ABBREVIATION [DOID:0110948, MONDO:Lexical, OMIM:193500, Orphanet:894]
xref: DOID:0110948 {source="MONDO:equivalentTo"}
xref: GARD:5519 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:894/attributed", source="Orphanet:894/ntbt", source="DOID:0110948", source="Orphanet:894"}
xref: MEDGEN:376211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75008 {source="MONDO:equivalentTo"}
xref: OMIM:193500 {source="Orphanet:894/e", source="MONDO:equivalentTo", source="DOID:0110948", source="Orphanet:894"}
xref: Orphanet:3440 {source="OMIM:193500"}
xref: Orphanet:894 {source="OMIM:193500", source="MONDO:equivalentTo", source="DOID:0110948"}
xref: UMLS:C1847800 {source="MEDGEN:376211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="DC-OMIM:193500", source="DOID:0110948", source="NCIT:C75008", source="OMIM:193500", source="Orphanet:894"} ! Waardenburg syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:193500", source="Orphanet:894"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8617 {source="MONDO:mim2gene_medgen"} ! PAX3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1" xsd:anyURI {source="GARD:0005519"}

[Term]
id: MONDO:0008671
name: Waardenburg syndrome type 2A
def: "Waardenburg syndrome Type 2 caused by mutations in the MITF gene." [NCIT:C75011]
subset: gard_rare {source="GARD:5521", source="MONDO:GARD"}
subset: rare
synonym: "MITF Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Waardenburg syndrome type 2 caused by mutation in MITF" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type 2A" EXACT CLINGEN_LABEL []
synonym: "Waardenburg syndrome type IIA" EXACT [DOID:0110950]
synonym: "Waardenburg syndrome without dystopia canthorum" RELATED [OMIM:193510]
synonym: "Waardenburg syndrome, type 2A" RELATED [MONDO:Lexical, OMIM:193510]
synonym: "Ws2" RELATED [OMIM:193510]
synonym: "WS2A" EXACT ABBREVIATION [DOID:0110950, MONDO:Lexical, OMIM:193510]
xref: DOID:0110950 {source="MONDO:equivalentTo"}
xref: GARD:5521 {source="MONDO:GARD"}
xref: MEDGEN:349786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536464 {source="MONDO:equivalentTo"}
xref: NCIT:C75011 {source="MONDO:equivalentTo"}
xref: OMIM:193510 {source="MONDO:equivalentTo", source="DOID:0110950"}
xref: Orphanet:3440 {source="OMIM:193510"}
xref: Orphanet:895 {source="OMIM:193510"}
xref: UMLS:C1860339 {source="MEDGEN:349786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="DOID:0110950", source="MONDO:Redundant", source="NCIT:C75011/inferred", source="OMIM:193510"} ! Waardenburg syndrome
is_a: MONDO:0019517 {source="MONDO:Redundant", source="NCIT:C75011", source="https://orcid.org/0000-0002-6601-2165"} ! Waardenburg syndrome type 2
intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 ! MITF
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:193510"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a" xsd:anyURI {source="GARD:0005521"}

[Term]
id: MONDO:0008672
name: Watson syndrome
def: "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual." [https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome]
subset: gard_rare {source="GARD:5540", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cafe-Au-lait Spots with pulmonic stenosis" RELATED [OMIM:193520]
synonym: "pulmonic stenosis with cafe-Au-lait Spots" RELATED [OMIM:193520]
synonym: "Watson syndrome" EXACT [MONDO:Lexical, OMIM:193520]
synonym: "WTSN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193520]
xref: DOID:0070483 {source="MONDO:equivalentTo"}
xref: GARD:5540 {source="MONDO:GARD"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:107817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:193520 {source="MONDO:equivalentTo"}
xref: Orphanet:3444 {source="MONDO:equivalentObsolete", source="OMIM:193520"}
xref: SCTID:403820003 {source="MONDO:equivalentTo"}
xref: UMLS:C0553586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107817"}
is_a: MONDO:0011035 ! neurofibromatosis-Noonan syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome" xsd:anyURI {source="GARD:0005540"}

[Term]
id: MONDO:0008673
name: acrofacial dysostosis, Weyers type
def: "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." [Orphanet:952]
subset: gard_rare {source="GARD:497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:952"}
subset: ordo_malformation_syndrome {source="Orphanet:952"}
subset: orphanet_rare {source="Orphanet:952"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrodental dysostosis of Weyers" RELATED [OMIM:193530]
synonym: "acrofacial dysostosis of Weyers" RELATED [GARD:0000497]
synonym: "curry Hall syndrome" RELATED [GARD:0000497]
synonym: "curry-Hall syndrome" EXACT [OMIM:193530, Orphanet:952]
synonym: "wad" RELATED [MONDO:Lexical, OMIM:193530]
synonym: "Weyers acrodental dysostosis" EXACT [Orphanet:952]
synonym: "Weyers acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:193530, Orphanet:952]
xref: DOID:0111571 {source="MONDO:equivalentTo"}
xref: GARD:497 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:952/attributed", source="Orphanet:952/ntbt", source="Orphanet:952"}
xref: ICD9:520.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:141594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536695 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"}
xref: OMIM:193530 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"}
xref: Orphanet:952 {source="MONDO:equivalentTo", source="OMIM:193530"}
xref: SCTID:277807007 {source="MONDO:equivalentTo"}
xref: UMLS:C0457013 {source="MEDGEN:141594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:952"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018237 {source="Orphanet:952"} ! acrofacial dysostosis
is_a: MONDO:0019287 {source="Orphanet:952"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008674
name: obsolete WHIM syndrome
xref: NANDO:2200767 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3684" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0023880

[Term]
id: MONDO:0008675
name: Freeman-Sheldon syndrome
def: "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." [https://orcid.org/0000-0001-5208-3432, Orphanet:2053]
subset: gard_rare {source="GARD:6466", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1161", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2053"}
subset: ordo_malformation_syndrome {source="Orphanet:2053"}
subset: orphanet_rare {source="Orphanet:2053"}
subset: rare
synonym: "arthrogryposis distal type 2A" RELATED [GARD:0006466]
synonym: "arthrogryposis, distal, type 2A" RELATED [MONDO:Lexical, OMIM:193700]
synonym: "arthrogryposis, distal, type 2A (Freeman-Sheldon)" EXACT [OMIM:193700, OMIM:genemap2]
synonym: "cranio-carpo-tarsal syndrome" EXACT [NCIT:C98931]
synonym: "Craniocarpotarsal dysplasia" EXACT [OMIM:193700, Orphanet:2053]
synonym: "craniocarpotarsal dysplasia" EXACT [DOID:0111604]
synonym: "Craniocarpotarsal dystrophy" EXACT [OMIM:193700, Orphanet:2053]
synonym: "craniocarpotarsal dystrophy" EXACT [DOID:0111604]
synonym: "DA2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193700]
synonym: "distal arthrogryposis type 2A" EXACT [Orphanet:2053]
synonym: "Freeman Sheldon Syndrome" EXACT [NORD:1161]
synonym: "Freeman Sheldon syndrome" EXACT [NCIT:C98931]
synonym: "Freeman-Sheldon syndrome" EXACT [OMIM:193700]
synonym: "FSS" RELATED ABBREVIATION [GARD:0006466]
synonym: "whistling face syndrome" EXACT [DOID:0111604, Orphanet:2053]
synonym: "whistling face-windmill vane hand syndrome" EXACT [DOID:0111604, OMIM:193700]
synonym: "whistling-face syndrome" EXACT [NCIT:C98931]
synonym: "windmill-vane-hand syndrome" EXACT [NCIT:C98931]
xref: DOID:0111604 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0111605 {source="MONDO:equivalentTo"}
xref: GARD:6466 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="DOID:0111604", source="Orphanet:2053/attributed", source="Orphanet:2053/ntbt", source="Orphanet:2053"}
xref: MEDGEN:120516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535483 {source="DOID:0111604", source="Orphanet:2053/e", source="MONDO:equivalentTo", source="Orphanet:2053"}
xref: NCIT:C98931 {source="DOID:0111604", source="MONDO:equivalentTo"}
xref: NORD:1161 {source="MONDO:NORD"}
xref: OMIM:193700 {source="Orphanet:2053/e", source="MONDO:equivalentTo", source="Orphanet:2053"}
xref: Orphanet:2053 {source="OMIM:193700", source="DOID:0111604", source="MONDO:equivalentTo"}
xref: SCTID:52616002 {source="DOID:0111604", source="MONDO:equivalentTo"}
xref: UMLS:C0265224 {source="MEDGEN:120516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98931"} ! syndromic disease
is_a: MONDO:0008779 {source="NCIT:C98931"} ! arthrogryposis
is_a: MONDO:0015161 {source="Orphanet:2053"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019942 {source="DC-OMIM:193700", source="DOID:0111604", source="Orphanet:2053"} ! distal arthrogryposis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 {source="MONDO:mim2gene_medgen"} ! MYH3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008676
name: white sponge nevus 1
def: "Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary mucosal leukokeratosis caused by mutation in KRT4" EXACT [MONDO:design_pattern]
synonym: "KRT4 hereditary mucosal leukokeratosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "leukokeratosis, hereditary mucosal" RELATED [OMIM:193900]
synonym: "WHITE sponge NEVUS 1" RELATED [OMIM:193900]
synonym: "white sponge nevus 1" EXACT [MONDO:Lexical, OMIM:193900]
synonym: "White sponge Nevus of Cannon" RELATED [OMIM:193900]
synonym: "White sponge Nevus type 1" EXACT [MONDORULE:1, OMIM:193900]
synonym: "WSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193900]
xref: DOID:0081287 {source="MONDO:equivalentTo"}
xref: MEDGEN:860363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:193900 {source="MONDO:equivalentTo"}
xref: Orphanet:171723 {source="OMIM:193900"}
xref: UMLS:C4011926 {source="MEDGEN:860363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015748 {source="DC-OMIM:193900", source="MONDO:Redundant", source="OMIM:193900"} ! hereditary mucosal leukokeratosis
intersection_of: MONDO:0015748 ! hereditary mucosal leukokeratosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6441 ! KRT4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6441 {source="MONDO:mim2gene_medgen"} ! KRT4

[Term]
id: MONDO:0008677
name: obsolete widow's peak
comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0000349
synonym: "widow'S peak" RELATED [OMIM:194000]
synonym: "widow's peak" EXACT [MONDO:ambiguous]
synonym: "widow's peak (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0000349 {source="MONDO:otherHierarchy"}
xref: OMIM:194000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000589 "widow's peak (disease)" xsd:string
is_obsolete: true
consider: HP:0000349

[Term]
id: MONDO:0008678
name: Williams syndrome
def: "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" [https://orcid.org/0000-0001-5208-3432, Orphanet:904]
subset: gard_rare {source="GARD:7891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1854"}
subset: ordo_disorder {source="Orphanet:904"}
subset: ordo_malformation_syndrome {source="Orphanet:904"}
subset: orphanet_rare {source="Orphanet:904"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb" RELATED [OMIM:194050]
synonym: "deletion 7q11.23" EXACT [Orphanet:904]
synonym: "Fanconi Schlesinger syndrome" EXACT [DOID:1928]
synonym: "monosomy 7q11.23" EXACT [Orphanet:904]
synonym: "WBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194050]
synonym: "Williams syndrome" EXACT [OMIM:194050]
synonym: "Williams-Beuren syndrome" EXACT [MONDO:Lexical, OMIM:194050, Orphanet:904]
synonym: "Williams-Beuren syndrome (WBS)" EXACT [NCIT:C85232]
synonym: "WMS" RELATED ABBREVIATION [GARD:0007891]
xref: DECIPHER:3 {source="MONDO:equivalentTo"}
xref: DOID:1928 {source="MONDO:equivalentTo"}
xref: GARD:7891 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:904", source="Orphanet:904/attributed", source="Orphanet:904/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049644 {source="Orphanet:904", source="Orphanet:904/e"}
xref: MEDGEN:59799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018980 {source="DOID:1928", source="MONDO:equivalentTo", source="Orphanet:904", source="Orphanet:904/e"}
xref: NANDO:1200664 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200286 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85232 {source="DOID:1928", source="MONDO:equivalentTo"}
xref: NORD:1854 {source="MONDO:NORD"}
xref: OMIM:194050 {source="DOID:1928", source="MONDO:equivalentTo", source="Orphanet:904", source="Orphanet:904/e"}
xref: Orphanet:904 {source="MONDO:equivalentTo", source="OMIM:194050"}
xref: SCTID:63247009 {source="DOID:1928", source="MONDO:equivalentTo"}
xref: UMLS:C0175702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:59799"}
is_a: MONDO:0000761 {source="DOID:1928"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85232"} ! syndromic disease
is_a: MONDO:0016906 {source="Orphanet:904", source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the long arm of chromosome 7
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: disease_has_feature HP:0004381 {source="MONDO:Wikidata"} ! Supravalvular aortic stenosis
relationship: disease_has_feature MONDO:0008504 {source="MONDO:Wikidata"} ! supravalvular aortic stenosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:904", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005071 {source="MONDO:0020016-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0005267 {source="MONDO:0015506-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:904", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0017656 {source="Orphanet:904", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete motor stereotypies
relationship: excluded_subClassOf MONDO:0020165 {source="Orphanet:904", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic epicanthus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008679
name: Wilms tumor 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nephroblastoma" RELATED [OMIM:194070]
synonym: "renal Wilms tumor" BROAD [DOID:2154, NCIT:C40407]
synonym: "renal Wilms tumour" BROAD OMO:0003005 []
synonym: "Wilms tumor 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:194070]
synonym: "Wilms tumor type 1" EXACT [MONDORULE:1, OMIM:194070]
synonym: "Wilms tumor, autosomal dominant, somatic mutation" EXACT [OMIM:194070, OMIM:genemap2]
synonym: "Wilms tumor, somatic" EXACT [OMIM:194070, OMIM:genemap2]
synonym: "Wilms tumor, type 1, autosomal dominant, somatic mutation" EXACT [OMIM:194070, OMIM:genemap2]
synonym: "Wilms tumour type 1" EXACT OMO:0003005 []
synonym: "Wilms' tumor" BROAD [DOID:2154]
synonym: "Wilms' tumour" BROAD OMO:0003005 []
synonym: "WT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194070]
xref: GARD:15124 {source="MONDO:GARD"}
xref: MESH:D009396 {source="DOID:2154"}
xref: NCIT:C27730 {source="DOID:2154", source="MONDO:directSiblingOf"}
xref: NCIT:C3267 {source="DOID:2154"}
xref: NCIT:C40407 {source="DOID:2154"}
xref: NCIT:C6180 {source="DOID:2154", source="MONDO:directSiblingOf"}
xref: OMIM:194070 {source="DOID:2154", source="MONDO:equivalentTo"}
xref: Orphanet:654 {source="OMIM:194070"}
xref: SCTID:25081006 {source="DOID:2154"}
xref: SCTID:302849000 {source="DOID:2154"}
xref: SCTID:31470003 {source="DOID:2154"}
is_a: MONDO:0003321 {source="MONDO:Redundant", source="OMIM:194070"} ! hereditary Wilms tumor
is_a: MONDO:0019004 {source="DC-OMIM:194070"} ! kidney Wilms tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008680
name: Wilms tumor 2
subset: gard_rare {source="GARD:8559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial Wilms tumor 2" RELATED [GARD:0008559]
synonym: "familial Wilms tumour 2" RELATED OMO:0003005 []
synonym: "FWT2" RELATED ABBREVIATION [GARD:0008559]
synonym: "Wilms tumor 2" EXACT [MESH:C536853, MONDO:Lexical, OMIM:194071]
synonym: "Wilms tumor 2, autosomal dominant, somatic mutation" EXACT [OMIM:194071, OMIM:genemap2]
synonym: "Wilms tumor type 2" EXACT [MONDORULE:1, OMIM:194071]
synonym: "Wilms tumour 2, autosomal dominant, somatic mutation" EXACT OMO:0003005 []
synonym: "Wilms tumour type 2" EXACT OMO:0003005 []
synonym: "WT2" RELATED ABBREVIATION [MESH:C536853, MONDO:Lexical, OMIM:194071]
xref: GARD:8559 {source="MONDO:GARD"}
xref: MEDGEN:854562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536853 {source="MONDO:equivalentTo"}
xref: OMIM:194071 {source="MONDO:equivalentTo"}
xref: OMIM:605982 {source="GARD:0008559", source="MONDO:equivalentObsolete"}
xref: Orphanet:654 {source="OMIM:194071"}
xref: UMLS:C3887743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854562"}
is_a: MONDO:0003321 {source="MESH:C536853", source="MONDO:Redundant", source="OMIM:194071"} ! hereditary Wilms tumor
is_a: MONDO:0019004 {source="DC-OMIM:194071"} ! kidney Wilms tumor
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4713 {source="MONDO:mim2gene_medgen"} ! H19
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2" xsd:anyURI {source="GARD:0008559"}

[Term]
id: MONDO:0008681
name: WAGR syndrome
def: "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." [Orphanet:893]
subset: gard_rare {source="GARD:5528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1833"}
subset: ordo_disorder {source="Orphanet:893"}
subset: ordo_malformation_syndrome {source="Orphanet:893"}
subset: orphanet_rare {source="Orphanet:893"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "11p deletion" RELATED [GARD:0001732]
synonym: "11p deletion syndrome" RELATED [GARD:0005528]
synonym: "11p monosomy" RELATED [GARD:0001732]
synonym: "11p partial monosomy syndrome" EXACT [NCIT:C3718]
synonym: "AGR triad" RELATED [GARD:0005528]
synonym: "chromosome 11p deletion" RELATED [GARD:0001732]
synonym: "chromosome 11p deletion syndrome" RELATED [GARD:0005528]
synonym: "chromosome 11P13 deletion syndrome" RELATED [OMIM:194072]
synonym: "chromosome 11p13 deletion syndrome" EXACT [DOID:14515]
synonym: "Del(11)(p13)" EXACT [Orphanet:893]
synonym: "deletion 11p" RELATED [GARD:0001732]
synonym: "deletion 11p13" EXACT [Orphanet:893]
synonym: "monosomy 11p" RELATED [GARD:0001732]
synonym: "monosomy 11p13" EXACT [Orphanet:893]
synonym: "partial monosomy 11p" RELATED [GARD:0001732]
synonym: "WAGR" RELATED DEPRECATED [MONDO:Lexical, OMIM:194072]
synonym: "WAGR 11p13 deletion syndrome" EXACT [DECIPHER:35]
synonym: "WAGR Complex" RELATED [GARD:0005528]
synonym: "WAGR syndrome" EXACT [NCIT:C3718, OMIM:194072]
synonym: "WAGR Syndrome/11p Deletion Syndrome" EXACT [NORD:1833]
synonym: "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome" EXACT [NCIT:C3718]
synonym: "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:194072, OMIM:genemap2]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:194072]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:194072]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome" RELATED [GARD:0005528]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome" RELATED DEPRECATED [GARD:0005528]
synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome" EXACT [DOID:14515, NCIT:C3718, Orphanet:893]
synonym: "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome" EXACT DEPRECATED [DOID:14515, NCIT:C3718]
synonym: "Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome" RELATED [GARD:0005528]
synonym: "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome" RELATED DEPRECATED [GARD:0005528]
xref: DECIPHER:35 {source="MONDO:equivalentTo"}
xref: DOID:14515 {source="MONDO:equivalentTo"}
xref: GARD:5528 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:893/attributed", source="Orphanet:893/ntbt", source="Orphanet:893"}
xref: MEDGEN:64512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538295 {source="Orphanet:893/e", source="Orphanet:893"}
xref: MESH:D017624 {source="DOID:14515", source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"}
xref: NCIT:C3718 {source="DOID:14515", source="MONDO:equivalentTo"}
xref: NORD:1833 {source="MONDO:NORD"}
xref: OMIM:194072 {source="DOID:14515", source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"}
xref: Orphanet:893 {source="MONDO:equivalentTo", source="OMIM:194072"}
xref: SCTID:4135001 {source="DOID:14515"}
xref: SCTID:715215007 {source="MONDO:equivalentTo"}
xref: UMLS:C0206115 {source="MEDGEN:64512", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DOID:14515"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0015356 {source="MESH:D017624/inferred", source="MONDO:Redundant", source="NCIT:C3718", source="Orphanet:893/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0016893 {source="Orphanet:893"} ! partial deletion of the short arm of chromosome 11
is_a: MONDO:0020040 ! 46,XY disorder of sex development
relationship: disease_has_feature HP:0000526 ! Aniridia
relationship: disease_has_feature HP:0001249 ! Intellectual disability
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome" xsd:anyURI {source="GARD:0005528"}

[Term]
id: MONDO:0008682
name: Denys-Drash syndrome
def: "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." [Orphanet:220]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5576", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1044"}
subset: ordo_disorder {source="Orphanet:220"}
subset: orphanet_rare {source="Orphanet:220"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194080]
synonym: "Denys Drash syndrome" EXACT [NCIT:C84668]
synonym: "Denys-Drash syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:194080]
synonym: "Denys-Drash syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:194080, OMIM:genemap2]
synonym: "Drash syndrome" EXACT [OMIM:194080, Orphanet:220]
synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumor" RELATED [GARD:0005576]
synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumour" RELATED OMO:0003005 []
synonym: "nephropathy, Wilms tumor, and genital anomalies" RELATED [OMIM:194080]
synonym: "nephrotic syndrome type 4" EXACT [NCIT:C84668]
synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumor" RELATED [GARD:0005576]
synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumour" RELATED OMO:0003005 []
synonym: "Wilms tumor and pseudo- or true hermaphroditism" RELATED [OMIM:194080]
synonym: "Wilms tumor and pseudohermaphroditism" EXACT [Orphanet:220]
synonym: "Wilms tumour and pseudo- or true hermaphroditism" RELATED OMO:0003005 []
synonym: "Wilms tumour and pseudohermaphroditism" EXACT OMO:0003005 []
xref: DOID:3764 {source="MONDO:equivalentTo"}
xref: GARD:5576 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="Orphanet:220/attributed", source="Orphanet:220/ntbt", source="Orphanet:220"}
xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10070179 {source="Orphanet:220/e", source="Orphanet:220"}
xref: MEDGEN:181980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D030321 {source="Orphanet:220/e", source="DOID:3764", source="MONDO:equivalentTo", source="Orphanet:220"}
xref: NANDO:2200116 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84668 {source="DOID:3764", source="MONDO:equivalentTo"}
xref: NORD:1044 {source="MONDO:NORD"}
xref: OMIM:194080 {source="Orphanet:220/e", source="DOID:3764", source="MONDO:equivalentTo", source="Orphanet:220"}
xref: Orphanet:220 {source="OMIM:194080", source="MONDO:equivalentTo"}
xref: SCTID:236385009 {source="DOID:3764", source="MONDO:equivalentTo"}
xref: UMLS:C0950121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181980"}
is_a: MONDO:0000426 {source="DOID:3764", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0020040 ! 46,XY disorder of sex development
relationship: disease_has_feature HP:0000037 ! Male pseudohermaphroditism
relationship: disease_has_feature HP:0001967 ! Diffuse mesangial sclerosis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:194080"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0008683
name: Wilms tumor 3
subset: gard_rare {source="GARD:15125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Wilms tumor 3" EXACT [MONDO:Lexical, OMIM:194090]
synonym: "Wilms tumor, type 3" EXACT [OMIM:194090, OMIM:genemap2]
synonym: "WT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194090]
xref: GARD:15125 {source="MONDO:GARD"}
xref: MEDGEN:349770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565991 {source="MONDO:equivalentTo"}
xref: OMIM:194090 {source="MONDO:equivalentTo"}
xref: Orphanet:654 {source="OMIM:194090"}
xref: UMLS:C1860265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349770"}
is_a: MONDO:0003321 {source="MESH:C565991", source="MONDO:Redundant", source="OMIM:194090"} ! hereditary Wilms tumor
is_a: MONDO:0019004 {source="DC-OMIM:194090"} ! kidney Wilms tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008684
name: Wolf-Hirschhorn syndrome
def: "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." [Orphanet:280]
subset: gard_rare {source="GARD:7896", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1859", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280"}
subset: ordo_malformation_syndrome {source="Orphanet:280"}
subset: orphanet_rare {source="Orphanet:280"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "4p deletion syndrome" EXACT [DOID:0050460]
synonym: "4p syndrome" RELATED [GARD:0007896]
synonym: "4p- syndrome" EXACT [Orphanet:280]
synonym: "chromosome 4p syndrome" RELATED [GARD:0007896]
synonym: "chromosome 4P16.3 deletion syndrome" RELATED [OMIM:194190]
synonym: "chromosome 4p16.3 deletion syndrome" EXACT [DOID:0050460]
synonym: "distal deletion 4p" EXACT [Orphanet:280]
synonym: "distal monosomy 4p" EXACT [Orphanet:280]
synonym: "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation" RELATED [GARD:0007896]
synonym: "Pitt syndrome" EXACT [DOID:0050460]
synonym: "Pitt-Rogers-Danks syndrome" EXACT [DOID:0050460, OMIM:194190]
synonym: "telomeric deletion 4p" EXACT [Orphanet:280]
synonym: "WHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194190]
synonym: "Wittwer syndrome" EXACT [OMIM:194190]
synonym: "Wolf syndrome" RELATED [GARD:0007896]
synonym: "Wolf-Hirschhorn syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:194190]
synonym: "Wolf-Hirschhorn syndrome, Isolated cases" EXACT [OMIM:194190, OMIM:genemap2]
xref: DECIPHER:1 {source="MONDO:equivalentTo"}
xref: DOID:0050460 {source="MONDO:equivalentTo"}
xref: GARD:7896 {source="MONDO:GARD"}
xref: ICD10CM:Q93.3 {source="Orphanet:280/inclusion", source="Orphanet:280", source="MONDO:directSiblingOf", source="Orphanet:280/ntbt", source="DOID:0050460"}
xref: MedDRA:10050361 {source="Orphanet:280", source="Orphanet:280/e"}
xref: MEDGEN:408255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536740 {source="Orphanet:280", source="Orphanet:280/e"}
xref: MESH:D054877 {source="MONDO:equivalentTo", source="Orphanet:280", source="Orphanet:280/e", source="DOID:0050460"}
xref: NANDO:1200683 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200962 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35528 {source="MONDO:equivalentTo", source="DOID:0050460"}
xref: NORD:1859 {source="MONDO:NORD"}
xref: OMIM:194190 {source="MONDO:equivalentTo", source="Orphanet:280", source="Orphanet:280/e", source="DOID:0050460"}
xref: Orphanet:280 {source="OMIM:194190", source="MONDO:equivalentTo"}
xref: Orphanet:98788 {source="OMIM:194190"}
xref: SCTID:17122004 {source="DOID:0050460"}
xref: SCTID:718226002 {source="MONDO:equivalentTo"}
xref: UMLS:C1956097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:408255"}
is_a: MONDO:0000761 {source="DOID:0050460"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35528"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:280"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0022762 {source="Orphanet:280"} ! chromosome 4 short arm deletion
relationship: disease_has_feature MONDO:0005027 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:280", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:280", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:280", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015955", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome" xsd:anyURI {source="GARD:0007896"}

[Term]
id: MONDO:0008685
name: Wolff-Parkinson-White syndrome
def: "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes." [NCIT:P378]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "accessory atrioventricular pathways" RELATED [OMIM:194200]
synonym: "anomalous A-V excitation" EXACT [DOID:384]
synonym: "anomalous atrioventricular excitation" EXACT [DOID:384]
synonym: "preexcitation syndrome" RELATED [OMIM:194200]
synonym: "ventricular familial preexcitation syndrome" EXACT [Orphanet:907]
synonym: "Wolff-Parkinson-White pattern" EXACT [DOID:384]
synonym: "Wolff-Parkinson-White pattern (finding)" EXACT [DOID:384]
synonym: "Wolff-Parkinson-White syndrome" EXACT [MONDO:ambiguous, OMIM:194200]
synonym: "Wolff-Parkinson-white syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "WPW" EXACT ABBREVIATION [NCIT:C35132]
synonym: "Wpw syndrome" RELATED [OMIM:194200]
xref: DOID:384 {source="MONDO:equivalentTo"}
xref: EFO:1001450 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001716 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I45.6 {source="DOID:384"}
xref: ICD9:426.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:384"}
xref: MEDGEN:12162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014927 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:384"}
xref: NANDO:2200217 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35132 {source="MONDO:equivalentTo", source="DOID:384"}
xref: OMIM:194200 {source="MONDO:equivalentTo", source="DOID:384"}
xref: Orphanet:907 {source="MONDO:equivalentObsolete", source="OMIM:194200"}
xref: SCTID:155360000 {source="DOID:384"}
xref: SCTID:17869006 {source="MONDO:equivalentTo", source="DOID:384"}
xref: SCTID:195057009 {source="DOID:384"}
xref: SCTID:195061003 {source="DOID:384"}
xref: SCTID:251115003 {source="DOID:384"}
xref: SCTID:266304003 {source="DOID:384"}
xref: SCTID:74390002 {source="DOID:384"}
xref: UMLS:C0043202 {source="MEDGEN:12162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000992 {source="DOID:384"} ! heart conduction disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0800484 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2-related cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="MONDO:mim2gene_medgen"} ! PRKAG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6446" xsd:anyURI
property_value: IAO:0000589 "Wolff-Parkinson-white syndrome (disease)" xsd:string

[Term]
id: MONDO:0008686
name: isolated familial wooly hair disorder
def: "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." [Orphanet:170]
subset: gard_rare {source="GARD:5597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:170"}
subset: orphanet_rare {source="Orphanet:170"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADWH" RELATED ABBREVIATION [OMIM:194300]
synonym: "familial woolly hair (autosomal recessive)" RELATED OMO:0003005 []
synonym: "familial woolly hair syndrome" EXACT OMO:0003005 []
synonym: "familial wooly hair (autosomal recessive)" RELATED [GARD:0005597]
synonym: "familial wooly hair syndrome" EXACT [Orphanet:170]
synonym: "hereditary woolly hair (autosomal dominant)" RELATED OMO:0003005 []
synonym: "hereditary woolly hair syndrome" EXACT OMO:0003005 []
synonym: "hereditary wooly hair (autosomal dominant)" RELATED [GARD:0005597]
synonym: "hereditary wooly hair syndrome" EXACT [Orphanet:170]
synonym: "woolly hair" EXACT OMO:0003005 []
synonym: "woolly hair syndrome" RELATED OMO:0003005 []
synonym: "woolly hair, autosomal dominant" RELATED OMO:0003005 []
synonym: "wooly hair" EXACT [MONDO:ambiguous, Orphanet:170]
synonym: "wooly hair syndrome" RELATED [GARD:0005597]
synonym: "wooly hair, autosomal dominant" RELATED [MONDO:Lexical, OMIM:194300]
xref: DOID:0111572 {source="MONDO:equivalentTo"}
xref: GARD:5597 {source="MONDO:GARD"}
xref: HP:0002224 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q84.1 {source="Orphanet:170", source="Orphanet:170/index", source="Orphanet:170/ntbt"}
xref: MedDRA:10048017 {source="Orphanet:170", source="Orphanet:170/e"}
xref: MEDGEN:87469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536745 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"}
xref: Orphanet:170 {source="MONDO:equivalentTo", source="OMIM:194300"}
xref: SCTID:52564001 {source="MONDO:equivalentTo"}
xref: UMLS:C0343073 {source="MEDGEN:87469", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly
relationship: disease_has_feature HP:0002224 ! Woolly hair

[Term]
id: MONDO:0008687
name: Woronets trait
synonym: "Woronets trait" EXACT [OMIM:194320]
xref: MEDGEN:348570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:194320 {source="MONDO:equivalentTo"}
xref: UMLS:C1860237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348570"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008688
name: WT limb-blood syndrome
def: "WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant." [Orphanet:3466]
subset: gard_rare {source="GARD:39", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3466"}
subset: orphanet_rare {source="Orphanet:3466"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukaemia" RELATED OMO:0003005 []
synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukemia" RELATED [GARD:0000039]
synonym: "WT limb blood syndrome" RELATED [GARD:0000039]
synonym: "WT limb-blood syndrome" EXACT [OMIM:194350]
synonym: "WTsyndrome" RELATED [GARD:0000039]
xref: GARD:39 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:3466", source="Orphanet:3466/attributed", source="Orphanet:3466/ntbt"}
xref: MEDGEN:231231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536751 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"}
xref: OMIM:194350 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"}
xref: Orphanet:3466 {source="MONDO:equivalentTo", source="OMIM:194350"}
xref: SCTID:719019000 {source="MONDO:equivalentTo"}
xref: UMLS:C1327917 {source="MEDGEN:231231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001713 {source="Orphanet:3466"} ! inherited aplastic anemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome" xsd:anyURI {source="GARD:0000039"}

[Term]
id: MONDO:0008689
name: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dehydrated hereditary stomatocytosis" RELATED [OMIM:194380]
synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema" RELATED [OMIM:194380]
synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema" RELATED [OMIM:194380]
synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema" RELATED OMO:0003005 []
synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal oedema" RELATED OMO:0003005 []
synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema" RELATED [GARD:0010676]
synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal oedema" RELATED OMO:0003005 []
synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" RELATED [OMIM:194380]
synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" EXACT [MONDO:Lexical, OMIM:194380]
synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema" RELATED OMO:0003005 []
synonym: "Desiccytosis, hereditary" RELATED [OMIM:194380]
synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194380]
synonym: "DHS1" RELATED ABBREVIATION [OMIM:194380]
synonym: "pseudohyperkalemia Edinburgh" RELATED [OMIM:194380]
synonym: "pseudohyperkalemia, familial, 1, due to Red cell leak" RELATED [OMIM:194380]
synonym: "xerocytosis, hereditary" RELATED [OMIM:194380]
xref: DOID:0111576 {source="MONDO:equivalentTo"}
xref: GARD:15126 {source="MONDO:GARD"}
xref: MEDGEN:1638271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:194380 {source="MONDO:equivalentTo"}
xref: OMIM:603528 {source="GARD:0010676", source="MONDO:obsolete"}
xref: Orphanet:3202 {source="OMIM:194380"}
xref: UMLS:C4551512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638271"}
is_a: MONDO:0017910 {source="DC-OMIM:194380"} ! dehydrated hereditary stomatocytosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28993 {source="MONDO:mim2gene_medgen"} ! PIEZO1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema" xsd:anyURI {source="GARD:0010676"}

[Term]
id: MONDO:0008690
name: xeroderma pigmentosum, autosomal dominant, mild
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "xeroderma pigmentosum, autosomal dominant, mild" EXACT [OMIM:194400]
xref: MEDGEN:395440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565989 {source="MONDO:equivalentTo"}
xref: OMIM:194400 {source="MONDO:equivalentTo"}
xref: Orphanet:910 {source="OMIM:194400"}
xref: UMLS:C1860231 {source="MONDO:equivalentTo", source="MEDGEN:395440", source="MONDO:MEDGEN"}
is_a: MONDO:0019600 {source="DC-OMIM:194400", source="MESH:C565989"} ! xeroderma pigmentosum

[Term]
id: MONDO:0008691
name: zinc, elevated plasma
synonym: "albumin binding of zinc, elevated" RELATED [OMIM:194470]
synonym: "hyperzincemia and hypercalprotectinemia" RELATED [OMIM:194470]
synonym: "hyperzincemia, familial Dysalbuminemic" RELATED [OMIM:194470]
synonym: "zinc, elevated plasma" EXACT [OMIM:194470]
xref: MEDGEN:349756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:194470 {source="MONDO:equivalentTo"}
xref: Orphanet:251523 {source="OMIM:194470"}
xref: UMLS:C1860228 {source="MEDGEN:349756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:194470/inferred"} ! hereditary disease

[Term]
id: MONDO:0008692
name: abetalipoproteinemia
def: "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." [Orphanet:14]
subset: gard_rare {source="GARD:5", source="MONDO:GARD"}
subset: nord_rare {source="NORD:703", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:14"}
subset: orphanet_rare {source="Orphanet:14"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abetalipoproteinemia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:200100]
synonym: "abetalipoproteinemia neuropathy" RELATED [GARD:0000005]
synonym: "ABL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200100]
synonym: "acanthocytosis" RELATED [OMIM:200100]
synonym: "apolipoprotein B deficiency" RELATED [GARD:0000005]
synonym: "Bassen Kornzweig syndrome" RELATED [GARD:0000005]
synonym: "Bassen-Kornzweig disease" EXACT [Orphanet:14]
synonym: "Bassen-Kornzweig syndrome" RELATED [OMIM:200100]
synonym: "Betalipoprotein deficiency disease" RELATED [GARD:0000005]
synonym: "congenital betalipoprotein deficiency syndrome" RELATED [GARD:0000005]
synonym: "familial hypobetalipoproteinemia" EXACT [DOID:1386]
synonym: "homozygous familial hypobetalipoproteinemia" EXACT [Orphanet:14]
synonym: "microsomal triglyceride transfer Protein deficiency" RELATED [OMIM:200100]
synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [DOID:1386]
synonym: "MTP deficiency" RELATED [OMIM:200100]
xref: DOID:1386 {source="MONDO:equivalentTo"}
xref: GARD:5 {source="MONDO:GARD"}
xref: ICD10CM:E78.6 {source="Orphanet:14/ntbt", source="DOID:1386", source="Orphanet:14/inclusion", source="Orphanet:14"}
xref: MEDGEN:1253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000012 {source="DOID:1386", source="Orphanet:14", source="MONDO:equivalentTo", source="Orphanet:14/e"}
xref: NANDO:1200857 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200604 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84525 {source="DOID:1386", source="MONDO:equivalentTo"}
xref: NORD:703 {source="MONDO:NORD"}
xref: OMIM:200100 {source="DOID:1386", source="Orphanet:14", source="MONDO:equivalentTo", source="Orphanet:14/e"}
xref: Orphanet:14 {source="MONDO:equivalentTo", source="OMIM:200100"}
xref: SCTID:190787008 {source="DOID:1386", source="MONDO:equivalentTo"}
xref: SCTID:83123000 {source="DOID:1386"}
xref: UMLS:C0000744 {source="MEDGEN:1253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002525 {source="DOID:1386/inferred", source="MONDO:Redundant", source="NCIT:C84525", source="Orphanet:14/inferred"} ! inherited lipid metabolism disorder
is_a: MONDO:0003664 ! hemolytic anemia
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:14", source="Orphanet:14/inferred"} ! intestinal disorder
is_a: MONDO:0017774 {source="MESH:D000012", source="Orphanet:14"} ! hypobetalipoproteinemia
is_a: MONDO:0020044 {source="Orphanet:14"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7467 {source="MONDO:mim2gene_medgen"} ! MTTP

[Term]
id: MONDO:0008693
name: ablepharon macrostomia syndrome
def: "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome." [Orphanet:920]
subset: gard_rare {source="GARD:3", source="MONDO:GARD"}
subset: nord_rare {source="NORD:704", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:920"}
subset: ordo_malformation_syndrome {source="Orphanet:920"}
subset: orphanet_rare {source="Orphanet:920"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ablepharon-Macrostomia Syndrome" EXACT [NORD:704]
synonym: "ablepharon-macrostomia syndrome" EXACT [MONDO:Lexical, OMIM:200110]
synonym: "AMS" EXACT ABBREVIATION [GARD:0000003, MONDO:Lexical, OMIM:200110]
synonym: "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies" RELATED [GARD:0000003]
synonym: "poikiloderma with neutropenia, Clericuzio type" RELATED EXCLUDE [DOID:0060550]
xref: DOID:0060550 {source="MONDO:equivalentTo"}
xref: GARD:3 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:920", source="Orphanet:920/attributed", source="Orphanet:920/ntbt"}
xref: MEDGEN:395439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535557 {source="DOID:0060550", source="Orphanet:920", source="MONDO:equivalentTo", source="Orphanet:920/e"}
xref: NORD:704 {source="MONDO:NORD"}
xref: OMIM:200110 {source="DOID:0060550", source="Orphanet:920", source="GARD:0000003", source="MONDO:equivalentTo", source="Orphanet:920/e"}
xref: Orphanet:920 {source="DOID:0060550", source="OMIM:200110", source="GARD:0000003", source="MONDO:equivalentTo"}
xref: SCTID:718575002 {source="MONDO:equivalentTo"}
xref: UMLS:C1860224 {source="MEDGEN:395439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:920"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20670 {source="MONDO:mim2gene_medgen"} ! TWIST2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0008694
name: pseudoprogeria syndrome
def: "Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." [Orphanet:2985]
subset: gard_rare {source="GARD:415", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2985"}
subset: ordo_malformation_syndrome {source="Orphanet:2985"}
subset: orphanet_rare {source="Orphanet:2985"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absent eyebrows and eyelashes with intellectual disability" RELATED [OMIM:200130]
synonym: "absent eyebrows and eyelashes with mental retardation" RELATED DEPRECATED [OMIM:200130]
synonym: "absent eyebrows and eyelashes-intellectual disability syndrome" EXACT [Orphanet:2985]
synonym: "eyebrows and eyelashes absence-intellectual disability syndrome" EXACT [Orphanet:2985]
synonym: "Hal-Berg-Rudolph syndrome" EXACT [Orphanet:2985]
synonym: "intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED [GARD:0000415]
synonym: "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED DEPRECATED [GARD:0000415]
synonym: "pseudoprogeria syndrome" EXACT [OMIM:200130]
xref: GARD:415 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2985", source="Orphanet:2985/attributed", source="Orphanet:2985/ntbt"}
xref: MEDGEN:163218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563111 {source="MONDO:equivalentTo"}
xref: OMIM:200130 {source="MONDO:equivalentTo", source="Orphanet:2985", source="Orphanet:2985/e"}
xref: Orphanet:2985 {source="OMIM:200130", source="MONDO:equivalentTo"}
xref: SCTID:733086003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796125 {source="MEDGEN:163218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2985"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2985", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:2985", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome" xsd:anyURI {source="GARD:0000415"}

[Term]
id: MONDO:0008695
name: chorea-acanthocytosis
def: "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." [Orphanet:2388]
subset: gard_rare {source="GARD:3956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2388"}
subset: orphanet_rare {source="Orphanet:2388"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acanthocytosis with neurologic disorder" RELATED [OMIM:200150]
synonym: "Chac" EXACT [MONDO:Lexical, OMIM:200150, Orphanet:2388]
synonym: "chorea acanthocytosis" RELATED [GARD:0003956]
synonym: "chorea-acanthocytosis" EXACT CLINGEN_LABEL [OMIM:200150, Orphanet:2388]
synonym: "choreaacanthocytosis" RELATED [DOID:0050766]
synonym: "choreo-acanthocytosis" EXACT [DOID:0050766]
synonym: "CHOREOACANTHOCYTOSIS" RELATED ABBREVIATION [OMIM:200150]
synonym: "choreoacanthocytosis" EXACT [DOID:0050766, MONDO:Lexical, OMIM:200150]
synonym: "Levine-Critchley syndrome" EXACT [DOID:0050766, OMIM:200150, Orphanet:2388]
synonym: "neuroacanthocytosis" RELATED [OMIM:200150]
xref: DOID:0050766 {source="MONDO:equivalentTo"}
xref: GARD:3956 {source="MONDO:GARD"}
xref: ICD10CM:E78.6 {source="Orphanet:2388", source="Orphanet:2388/attributed", source="Orphanet:2388/ntbt", source="DOID:0050766"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200014 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:200150 {source="Orphanet:2388", source="DOID:0050766", source="MONDO:equivalentTo", source="Orphanet:2388/e"}
xref: Orphanet:2388 {source="OMIM:200150", source="DOID:0050766", source="MONDO:equivalentTo"}
xref: SCTID:66881004 {source="MONDO:equivalentTo"}
xref: UMLS:C0393576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98277"}
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0016987 {source="DOID:0050766", source="Orphanet:2388"} ! neuroacanthocytosis
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: disease_has_feature HP:0002072 ! Chorea
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1908 {source="MONDO:mim2gene_medgen"} ! VPS13A

[Term]
id: MONDO:0008696
name: acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
def: "This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy." [Orphanet:90301]
subset: gard_rare {source="GARD:453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90301"}
subset: orphanet_rare {source="Orphanet:90301"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acanthosis nigricans muscle cramps acral enlargement" RELATED [GARD:0000453]
synonym: "acanthosis nigricans with muscle cramps and acral enlargement" RELATED [OMIM:200170]
synonym: "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps" RELATED [GARD:0000453]
xref: GARD:453 {source="MONDO:GARD"}
xref: MEDGEN:348051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536000 {source="MONDO:equivalentTo"}
xref: OMIM:200170 {source="MONDO:equivalentTo", source="Orphanet:90301", source="Orphanet:90301/e"}
xref: Orphanet:90301 {source="MONDO:equivalentTo", source="OMIM:200170"}
xref: UMLS:C1860215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348051"}
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0007035 {source="MESH:C536000"} ! acanthosis nigricans
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0008697
name: obsolete acetophenetidin sensitivity
synonym: "Acetophenetidin sensitivity" EXACT [OMIM:200300]
xref: OMIM:200300 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0008698
name: achalasia
def: "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food." [NCIT:P378]
synonym: "achalasia" EXACT [MONDO:ambiguous]
synonym: "achalasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "achalasia of cardia" EXACT [DOID:9164]
synonym: "achalasia of esophagus" EXACT [DOID:9164]
synonym: "achalasia of oesophagus" EXACT OMO:0003005 []
synonym: "cardiospasm" EXACT [DOID:9164]
synonym: "esophageal achalasia" EXACT [DOID:9164, MTH:NOCODE]
synonym: "hypertensive lower esophageal sphincter" EXACT [DOID:9164]
synonym: "lack of reflex relaxation of lower oesophageal sphincter" EXACT [DOID:9164]
xref: DOID:9164 {source="MONDO:equivalentTo"}
xref: HP:0002571 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K22.0 {source="DOID:9164"}
xref: ICD9:530.0 {source="DOID:9164"}
xref: MEDGEN:5023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004931 {source="DOID:9164"}
xref: NCIT:C84699 {source="MONDO:otherHierarchy", source="DOID:9164"}
xref: Orphanet:930 {source="OMIM:200400"}
xref: SCTID:155672003 {source="DOID:9164"}
xref: SCTID:17460002 {source="DOID:9164"}
xref: SCTID:235630008 {source="MONDO:equivalentTo"}
xref: SCTID:45564002 {source="DOID:9164"}
xref: UMLS:C0014848 {source="MEDGEN:5023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="DOID:9164"} ! esophageal disorder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019635 {source="Orphanet:930/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic achalasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4055" xsd:anyURI
property_value: IAO:0000589 "achalasia (disease)" xsd:string

[Term]
id: MONDO:0008699
name: achalasia microcephaly syndrome
def: "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." [Orphanet:929]
subset: gard_rare {source="GARD:456", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:929"}
subset: ordo_malformation_syndrome {source="Orphanet:929"}
subset: orphanet_rare {source="Orphanet:929"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "achalasia microcephaly" EXACT [DOID:0050796]
synonym: "achalasia-microcephaly syndrome" EXACT [DOID:0050796, OMIM:200450]
xref: DOID:0050796 {source="MONDO:equivalentTo"}
xref: GARD:456 {source="MONDO:GARD"}
xref: ICD10CM:Q39.5 {source="Orphanet:929/attributed", source="Orphanet:929/ntbt", source="Orphanet:929"}
xref: MEDGEN:349753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536010 {source="Orphanet:929/e", source="DOID:0050796", source="MONDO:equivalentTo", source="Orphanet:929"}
xref: OMIM:200450 {source="Orphanet:929/e", source="DOID:0050796", source="MONDO:equivalentTo", source="Orphanet:929"}
xref: Orphanet:929 {source="OMIM:200450", source="MONDO:equivalentTo"}
xref: SCTID:718573009 {source="MONDO:equivalentTo"}
xref: UMLS:C1860212 {source="MEDGEN:349753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0006025 {source="DOID:0050796", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:200450", source="Orphanet:929"} ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome" xsd:anyURI {source="GARD:0000456"}

[Term]
id: MONDO:0008700
name: acheiropody
def: "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." [Orphanet:931]
subset: gard_rare {source="GARD:376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:931"}
subset: ordo_morphological_anomaly {source="Orphanet:931"}
subset: orphanet_rare {source="Orphanet:931"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acheiropodia" EXACT [DOID:0050603, OMIM:200500]
synonym: "acheiropody" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:200500, Orphanet:931]
synonym: "acheiropody, Brazilian type" RELATED [OMIM:200500]
synonym: "ACHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200500]
synonym: "horn-Kolb syndrome" EXACT [DOID:0050603]
xref: DOID:0050603 {source="MONDO:equivalentTo"}
xref: GARD:376 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:931", source="Orphanet:931/attributed", source="Orphanet:931/ntbt"}
xref: MEDGEN:120547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536014 {source="Orphanet:931", source="MONDO:equivalentTo", source="Orphanet:931/e"}
xref: OMIM:200500 {source="Orphanet:931", source="MONDO:equivalentTo", source="DOID:0050603", source="Orphanet:931/e"}
xref: Orphanet:931 {source="MONDO:equivalentTo", source="OMIM:200500"}
xref: SCTID:177504007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120547"}
is_a: MONDO:0005516 {source="DOID:0050603", source="Orphanet:931"} ! osteochondrodysplasia
is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008701
name: achondrogenesis type IA
def: "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." [Orphanet:93299]
subset: gard_rare {source="GARD:459", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93299"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACG1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200600]
synonym: "achondrogenesis Houston-Harris type" EXACT [DOID:0080054]
synonym: "achondrogenesis type 1A" RELATED [Orphanet:93299]
synonym: "achondrogenesis, Houston-Harris type" EXACT [OMIM:200600, Orphanet:93299]
synonym: "achondrogenesis, type 1A" RELATED [OMIM:200600]
synonym: "achondrogenesis, type IA" RELATED [MONDO:Lexical, OMIM:200600]
synonym: "Houston-Harris achondrogenesis" RELATED [GARD:0000459]
xref: DOID:0080054 {source="MONDO:equivalentTo"}
xref: GARD:459 {source="MONDO:GARD"}
xref: ICD10CM:Q77.0 {source="Orphanet:93299/attributed", source="Orphanet:93299/ntbt", source="Orphanet:93299"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536015 {source="Orphanet:93299", source="MONDO:equivalentTo", source="Orphanet:93299/e"}
xref: OMIM:200600 {source="DOID:0080054", source="Orphanet:93299", source="MONDO:equivalentTo", source="Orphanet:93299/e"}
xref: Orphanet:932 {source="OMIM:200600"}
xref: Orphanet:93299 {source="MONDO:equivalentTo", source="OMIM:200600"}
xref: SCTID:42725006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78546"}
is_a: MONDO:0019648 {source="DC-OMIM:200600", source="DOID:0080054", source="OMIM:200600", source="Orphanet:93299"} ! achondrogenesis
is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia
is_a: MONDO:1040009 {source="PMID:20089971", source="PMID:30728324"} ! TRIP11-related skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12305 {source="MONDO:mim2gene_medgen"} ! TRIP11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008702
name: achondrogenesis type II
def: "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." [Orphanet:93296]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93296"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200610]
synonym: "achondrogenesis type 2" RELATED [Orphanet:93296]
synonym: "achondrogenesis type II" EXACT CLINGEN_LABEL []
synonym: "achondrogenesis, Langer-Saldino type" EXACT [OMIM:200610, Orphanet:93296]
synonym: "achondrogenesis, type 2" RELATED [OMIM:200610]
synonym: "achondrogenesis, type IB" RELATED [OMIM:200610]
synonym: "achondrogenesis, type IB, formerly" RELATED [OMIM:200610]
synonym: "achondrogenesis, type II" RELATED [MONDO:Lexical, OMIM:200610]
synonym: "achondrogenesis, type II or hypochondrogenesis" EXACT [OMIM:200610, OMIM:genemap2]
synonym: "chondrogenesis imperfecta" RELATED [OMIM:200610]
synonym: "hypochondrogenesis" RELATED [OMIM:200610]
xref: DOID:0080056 {source="MONDO:equivalentTo"}
xref: GARD:8713 {source="MONDO:GARD"}
xref: ICD10CM:Q77.0 {source="Orphanet:93296", source="Orphanet:93296/attributed", source="Orphanet:93296/ntbt"}
xref: MEDGEN:66315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536017 {source="Orphanet:93296", source="MONDO:equivalentTo", source="Orphanet:93296/e"}
xref: NANDO:2201345 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:200610 {source="Orphanet:93296", source="DOID:0080056", source="MONDO:equivalentTo", source="Orphanet:93296/e"}
xref: Orphanet:932 {source="OMIM:200610"}
xref: Orphanet:93296 {source="MONDO:equivalentTo", source="OMIM:200610"}
xref: Orphanet:93297 {source="OMIM:200610", source="MONDO:directSiblingOf"}
xref: UMLS:C0220685 {source="MEDGEN:66315", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019648 {source="DC-OMIM:200610", source="DOID:0080056", source="OMIM:200610", source="Orphanet:93296"} ! achondrogenesis
is_a: MONDO:0022800 {source="Orphanet:93296", source="PMID:31633310"} ! type 2 collagenopathy
relationship: disease_has_feature HP:0001789 ! Hydrops fetalis
relationship: disease_has_feature HP:0011220 ! Prominent forehead
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008703
name: acromesomelic dysplasia 2A
def: "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." [https://orcid.org/0000-0001-5208-3432, Orphanet:2098]
subset: gard_rare {source="GARD:1300", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2098"}
subset: ordo_malformation_syndrome {source="Orphanet:2098"}
subset: orphanet_rare {source="Orphanet:2098"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "achondrogenesis type II (formerly)" RELATED [GARD:0001300]
synonym: "achondrogenesis, Brazilian" RELATED [OMIM:200700]
synonym: "achondrogenesis, type II" RELATED [OMIM:200700]
synonym: "achondrogenesis, type II, formerly" RELATED [OMIM:200700]
synonym: "acromesomelic dysplasia 2A" EXACT [OMIM:200700, OMIM:genemap2]
synonym: "acromesomelic dysplasia, Grebe type" EXACT [OMIM:200700]
synonym: "AMDG" RELATED ABBREVIATION [GARD:0001300]
synonym: "Brazilian achondrogenesis" RELATED [GARD:0001300]
synonym: "chondrodysplasia, Grebe type" EXACT [OMIM:200700, Orphanet:2098]
synonym: "GREBE chondrodysplasia" EXACT [DOID:0080052]
synonym: "Grebe chondrodysplasia" EXACT [OMIM:200700]
synonym: "Grebe dysplasia" EXACT [OMIM:200700]
synonym: "Grebe syndrome" RELATED [GARD:0001300]
synonym: "hypochondrogenesis" RELATED [NCIT:C3816]
synonym: "Langer-Saldino achondrogenesis" EXACT [NCIT:C3816]
synonym: "type II achondrogenesis" EXACT [NCIT:C3816]
xref: DOID:0080052 {source="MONDO:equivalentTo"}
xref: GARD:1300 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:2098/attributed", source="Orphanet:2098/ntbt", source="Orphanet:2098"}
xref: MEDGEN:75557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201345 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201346 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3816 {source="MONDO:equivalentTo"}
xref: OMIM:200700 {source="DOID:0080052", source="Orphanet:2098/e", source="MONDO:equivalentTo", source="Orphanet:2098"}
xref: Orphanet:2098 {source="MONDO:equivalentTo", source="OMIM:200700"}
xref: UMLS:C0265260 {source="MEDGEN:75557", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019648 {source="NCIT:C3816"} ! achondrogenesis
is_a: MONDO:0019696 {source="DOID:0080052", source="Orphanet:2098", source="PMID:31633310"} ! acromesomelic dysplasia
relationship: disease_has_feature HP:0002983 ! Micromelia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008704
name: short-limb skeletal dysplasia with severe combined immunodeficiency
def: "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." [Orphanet:935]
subset: gard_rare {source="GARD:2988", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:935"}
subset: orphanet_rare {source="Orphanet:935"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "achondroplasia and severe combined immunodeficiency" RELATED [GARD:0002988]
synonym: "achondroplasia and Swiss type agammaglobulinemia" RELATED [GARD:0000463]
synonym: "achondroplasia and Swiss-type agammaglobulinemia" RELATED [GARD:0000463]
synonym: "achondroplasia so-called and severe combined immunodeficiency" RELATED [GARD:0002988]
synonym: "achondroplasia, so-called, and severe combined immunodeficiency" RELATED [OMIM:200900]
synonym: "achondroplasia-SCID syndrome" EXACT [Orphanet:935]
synonym: "achondroplasia-severe combined immunodeficiency syndrome" EXACT [Orphanet:935]
synonym: "achondroplasia-Swiss type agammaglobulinemia syndrome" EXACT [Orphanet:935]
synonym: "agammaglobulinemia and achondroplasia" RELATED [GARD:0000463]
synonym: "immunodeficiency-short limb dwarfism syndrome" EXACT [Orphanet:935]
synonym: "short limb skeletal dysplasia with SCID" EXACT [Orphanet:935]
synonym: "short-limb skeletal dysplasia with severe combined immunodeficiency" EXACT [GARD:0002988, OMIM:200900]
synonym: "SLSD with SCID" RELATED [GARD:0002988]
synonym: "Slsd with SCID" RELATED [OMIM:200900]
xref: GARD:2988 {source="MONDO:GARD"}
xref: ICD10CM:D82.2 {source="Orphanet:935", source="Orphanet:935/specific", source="Orphanet:935/e"}
xref: MEDGEN:348040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536020 {source="Orphanet:935", source="Orphanet:935/e"}
xref: MESH:C565984 {source="MONDO:equivalentTo"}
xref: OMIM:200900 {source="GARD:0000463", source="MONDO:equivalentTo", source="Orphanet:935", source="GARD:0002988", source="Orphanet:935/e"}
xref: Orphanet:935 {source="MONDO:equivalentTo", source="GARD:0002988", source="OMIM:200900"}
xref: UMLS:C1860168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348040"}
is_a: MONDO:0017855 {source="Orphanet:935"} ! T-B- severe combined immunodeficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency" xsd:anyURI {source="GARD:0002988"}

[Term]
id: MONDO:0008705
name: lysosomal acid phosphatase deficiency
subset: gard_rare {source="GARD:16636", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:35121"}
subset: orphanet_rare {source="Orphanet:35121"}
subset: rare
synonym: "acid phosphatase deficiency" EXACT [OMIM:200950]
synonym: "lysosomal acid phosphatase deficiency" EXACT [Orphanet:35121]
xref: GARD:16636 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:35121/inclusion", source="Orphanet:35121/ntbt", source="Orphanet:35121"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562645 {source="MONDO:equivalentTo"}
xref: OMIM:200950 {source="Orphanet:35121/e", source="MONDO:equivalentTo", source="Orphanet:35121"}
xref: Orphanet:35121 {source="MONDO:equivalentTo", source="OMIM:200950"}
xref: SCTID:57863006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78674"}
is_a: MONDO:0002561 {source="Orphanet:35121"} ! lysosomal storage disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/123 {source="MONDO:mim2gene_medgen"} ! ACP2

[Term]
id: MONDO:0008706
name: Ackerman syndrome
def: "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." [Orphanet:2561]
subset: gard_rare {source="GARD:469", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2561"}
subset: ordo_malformation_syndrome {source="Orphanet:2561"}
subset: orphanet_rare {source="Orphanet:2561"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ackerman fused molar rooth syndrome" EXACT [Orphanet:2561]
synonym: "Ackerman syndrome" EXACT [OMIM:200970]
synonym: "glaucoma, juvenile, with unusual upper lip and dental roots" RELATED [OMIM:200970]
synonym: "juvenile glaucoma with unusual upper lip and dental roots" RELATED [GARD:0000469]
synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip" RELATED [OMIM:200970]
synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [Orphanet:2561]
synonym: "pyramidal molars, glaucoma, abnormal upper lip" RELATED [GARD:0000469]
xref: GARD:469 {source="MONDO:GARD"}
xref: ICD10CM:K00.2 {source="Orphanet:2561", source="Orphanet:2561/attributed", source="Orphanet:2561/ntbt"}
xref: MEDGEN:395426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538170 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"}
xref: OMIM:200970 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"}
xref: Orphanet:2561 {source="MONDO:equivalentTo", source="OMIM:200970"}
xref: SCTID:722280000 {source="MONDO:equivalentTo"}
xref: UMLS:C1860167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395426"}
is_a: MONDO:0015161 {source="Orphanet:2561"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019287 {source="Orphanet:2561"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome" xsd:anyURI {source="GARD:0000469"}

[Term]
id: MONDO:0008707
name: acro-renal-mandibular syndrome
def: "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." [Orphanet:958]
subset: gard_rare {source="GARD:480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:958"}
subset: ordo_malformation_syndrome {source="Orphanet:958"}
subset: orphanet_rare {source="Orphanet:958"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acro-renal-uterine-mandibular syndrome" RELATED [GARD:0000480]
synonym: "acrorenal mandibular syndrome" RELATED [GARD:0000480]
synonym: "acrorenal-mandibular syndrome" RELATED [OMIM:200980]
synonym: "acrorenal-uterine-mandibular syndrome" RELATED [OMIM:200980]
synonym: "split hand split foot mandibular hypoplasia" RELATED [GARD:0000480]
synonym: "split hand/split foot-mandibular hypoplasia syndrome" EXACT [Orphanet:958]
synonym: "split-hand and split-foot with mandibular hypoplasia" RELATED [OMIM:200980]
xref: GARD:480 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:958", source="Orphanet:958/attributed", source="Orphanet:958/ntbt"}
xref: MEDGEN:395425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535665 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"}
xref: OMIM:200980 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"}
xref: Orphanet:958 {source="MONDO:equivalentTo", source="OMIM:200980"}
xref: SCTID:720414005 {source="MONDO:equivalentTo"}
xref: UMLS:C1860166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395425"}
is_a: MONDO:0015161 {source="Orphanet:958"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:958", source="Orphanet:958/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008708
name: acrocallosal syndrome
def: "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." [Orphanet:36]
subset: gard_rare {source="GARD:5721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36"}
subset: ordo_malformation_syndrome {source="Orphanet:36"}
subset: orphanet_rare {source="Orphanet:36"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly" RELATED [GARD:0005721]
synonym: "ACLS" EXACT ABBREVIATION [DOID:9250, MONDO:Lexical, OMIM:200990]
synonym: "acrocallosal syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:200990]
synonym: "acrocallosal syndrome, Schinzel type" RELATED [GARD:0005721]
synonym: "ACS" EXACT ABBREVIATION [Orphanet:36]
synonym: "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" RELATED [OMIM:200990]
synonym: "Joubert syndrome 12" RELATED [OMIM:200990]
synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:200990]
synonym: "Schinzel acrocallosal syndrome" EXACT [DOID:9250, OMIM:200990]
synonym: "Schinzel syndrome 1" EXACT [DOID:9250, MTH:NOCODE]
xref: DOID:9250 {source="MONDO:equivalentTo"}
xref: GARD:5721 {source="MONDO:GARD"}
xref: ICD10CM:Q04.0 {source="Orphanet:36/attributed", source="Orphanet:36/ntbt", source="Orphanet:36"}
xref: MEDGEN:162915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055673 {source="DOID:9250", source="MONDO:equivalentTo"}
xref: NCIT:C84531 {source="DOID:9250", source="MONDO:equivalentTo"}
xref: OMIM:200990 {source="Orphanet:36", source="DOID:9250", source="MONDO:equivalentTo", source="Orphanet:36/e"}
xref: Orphanet:36 {source="OMIM:200990", source="MONDO:equivalentTo"}
xref: SCTID:715951007 {source="MONDO:equivalentTo"}
xref: UMLS:C0796147 {source="MEDGEN:162915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:9250", source="MONDO:Redundant", source="NCIT:C84531"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:36"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
is_a: MONDO:0800463 {source="PMID:21552264", source="PMID:230301500", source="https://clinicalgenome.org/affiliation/40060/"} ! KIF7-related ciliopathy
relationship: disease_has_feature HP:0001274 ! Agenesis of corpus callosum
relationship: disease_has_feature HP:0010442 ! Polydactyly
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:36", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 {source="MONDO:mim2gene_medgen"} ! KIF7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0008709
name: acrocephalopolydactyly
def: "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." [Orphanet:221054]
subset: gard_rare {source="GARD:2096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221054"}
subset: ordo_malformation_syndrome {source="Orphanet:221054"}
subset: orphanet_rare {source="Orphanet:221054"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrocephalopolydactylous dysplasia" EXACT [OMIM:200995, Orphanet:221054]
synonym: "Elejalde syndrome" EXACT [OMIM:200995, Orphanet:221054]
xref: GARD:2096 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:221054", source="Orphanet:221054/attributed", source="Orphanet:221054/ntbt"}
xref: MEDGEN:501209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C573722 {source="MONDO:equivalentTo"}
xref: OMIM:200995 {source="Orphanet:221054", source="MONDO:equivalentTo", source="Orphanet:221054/e"}
xref: Orphanet:221054 {source="MONDO:equivalentTo", source="OMIM:200995"}
xref: SCTID:720417003 {source="MONDO:equivalentTo"}
xref: UMLS:C3495588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501209"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015338 {source="Orphanet:221054"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:8055141", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0008710
name: RAB23-related Carpenter syndrome
def: "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACPS 2" BROAD [OMIM:201000]
synonym: "acrocephalopolysyndactyly type 2" BROAD [OMIM:201000]
synonym: "Carpenter syndrome" BROAD [OMIM:201000, OMIM:genemap2]
synonym: "CARPENTER syndrome 1" RELATED [OMIM:201000]
synonym: "Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:201000]
synonym: "Carpenter syndrome caused by mutation in RAB23" EXACT [MONDO:design_pattern]
synonym: "Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:201000]
synonym: "CRPT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201000]
synonym: "RAB23 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RAB23-related Carpenter syndrome" EXACT CLINGEN_LABEL []
xref: GARD:15128 {source="MONDO:GARD"}
xref: MEDGEN:1644017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:201000 {source="MONDO:equivalentTo"}
xref: Orphanet:65759 {source="OMIM:201000"}
xref: SCTID:205813009 {source="MONDO:equivalentTo"}
xref: UMLS:C4551510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644017"}
is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0019012 {source="DC-OMIM:201000", source="MONDO:Redundant", source="OMIM:201000"} ! Carpenter syndrome
intersection_of: MONDO:0019012 ! Carpenter syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14263 ! RAB23
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14263 {source="MONDO:mim2gene_medgen"} ! RAB23
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008711
name: Goodman syndrome
def: "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." [Orphanet:65798]
subset: gard_rare {source="GARD:2549", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:65798"}
subset: rare
synonym: "ACPS 4" EXACT [OMIM:201020]
synonym: "ACPS4" EXACT ABBREVIATION [Orphanet:65798]
synonym: "acrocephalopolysyndactyly type 4" EXACT [Orphanet:65798]
synonym: "acrocephalopolysyndactyly type IV" RELATED [OMIM:201020]
synonym: "Goodman camptodactyly" RELATED [GARD:0002549]
synonym: "Goodman syndrome" EXACT [OMIM:201020]
xref: GARD:2549 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:65798", source="Orphanet:65798/attributed", source="Orphanet:65798/ntbt"}
xref: MEDGEN:78551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537287 {source="MONDO:equivalentTo"}
xref: OMIM:201020 {source="Orphanet:65798", source="MONDO:equivalentTo", source="Orphanet:65798/e"}
xref: Orphanet:65798 {source="OMIM:201020", source="MONDO:equivalentTo"}
xref: SCTID:720600004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78551"}
is_a: MONDO:0000078 {source="DC-OMIM:201020"} ! acrocephalopolysyndactyly
is_a: MONDO:0015160 {source="Orphanet:65798"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019796 {source="Orphanet:65798"} ! acrocephalosyndactyly
relationship: disease_shares_features_of MONDO:0019012 ! Carpenter syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome" xsd:anyURI {source="GARD:0002549"}

[Term]
id: MONDO:0008712
name: acrocraniofacial dysostosis
def: "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." [Orphanet:949]
subset: gard_rare {source="GARD:3075", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:949"}
subset: ordo_malformation_syndrome {source="Orphanet:949"}
subset: orphanet_rare {source="Orphanet:949"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrocraniofacial dysostosis" EXACT [OMIM:201050]
synonym: "Kaplan Plauchu Fitch syndrome" RELATED [GARD:0003075]
synonym: "Kaplan-Plauchu-Fitch syndrome" EXACT [Orphanet:949]
xref: GARD:3075 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:949/attributed", source="Orphanet:949/ntbt", source="Orphanet:949"}
xref: MEDGEN:349738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536892 {source="MONDO:equivalentTo"}
xref: OMIM:201050 {source="Orphanet:949/e", source="MONDO:equivalentTo", source="Orphanet:949"}
xref: Orphanet:949 {source="MONDO:equivalentTo", source="OMIM:201050"}
xref: SCTID:720418008 {source="MONDO:equivalentTo"}
xref: UMLS:C1860145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349738"}
is_a: MONDO:0015161 {source="Orphanet:949"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018237 {source="Orphanet:949"} ! acrofacial dysostosis

[Term]
id: MONDO:0008713
name: acrodermatitis enteropathica
alt_id: MONDO:0023070
def: "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." [Orphanet:37]
subset: gard_rare {source="GARD:5723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:721"}
subset: ordo_disorder {source="Orphanet:37"}
subset: orphanet_rare {source="Orphanet:37"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrodermatitis enteropathica" EXACT CLINGEN_LABEL []
synonym: "acrodermatitis enteropathica zinc deficiency type" RELATED [GARD:0005723]
synonym: "acrodermatitis enteropathica, zinc deficiency type" EXACT [Orphanet:37]
synonym: "acrodermatitis enteropathica, zinc-deficiency type" RELATED [MONDO:Lexical, OMIM:201100]
synonym: "ae" RELATED [GARD:0005723]
synonym: "AEZ" EXACT ABBREVIATION [MONDO:Lexical, OMIM:201100, Orphanet:37]
synonym: "Brandt syndrome" RELATED [GARD:0005723]
synonym: "Danbolt-Cross syndrome" RELATED [GARD:0005723]
synonym: "enteropathica" RELATED [GARD:0006343]
synonym: "inherited zinc deficiency" EXACT [Orphanet:37]
xref: DOID:0050605 {source="MONDO:equivalentTo"}
xref: GARD:5723 {source="MONDO:GARD"}
xref: ICD10CM:E83.2 {source="Orphanet:37/inclusion", source="Orphanet:37", source="Orphanet:37/ntbt"}
xref: icd11.foundation:1813939482 {source="MONDO:equivalentTo", source="Orphanet:37"}
xref: ICD9:686.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538178 {source="MONDO:equivalentTo"}
xref: NANDO:2200584 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C128802 {source="MONDO:equivalentTo"}
xref: NORD:721 {source="MONDO:NORD"}
xref: OMIM:201100 {source="MONDO:equivalentTo", source="Orphanet:37", source="DOID:0050605", source="Orphanet:37/e"}
xref: Orphanet:37 {source="OMIM:201100", source="MONDO:equivalentTo"}
xref: SCTID:37702000 {source="MONDO:equivalentTo"}
xref: UMLS:C0221036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66355"}
is_a: MONDO:0004689 {source="DOID:0050605"} ! inborn metal metabolism disorder
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0017764 {source="Orphanet:37"} ! disorder of zinc metabolism
relationship: disease_has_feature HP:0000534 {source="MONDO:Wikidata"} ! Abnormal eyebrow morphology
relationship: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:37", source="Orphanet:37/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17129 {source="MONDO:mim2gene_medgen"} ! SLC39A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica" xsd:anyURI {source="GARD:0005723"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6343/enteropathica" xsd:anyURI {source="GARD:0006343"}

[Term]
id: MONDO:0008714
name: acrofacial dysostosis Rodriguez type
def: "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." [https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type]
subset: gard_rare {source="GARD:496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1788"}
subset: ordo_malformation_syndrome {source="Orphanet:1788"}
subset: orphanet_rare {source="Orphanet:1788"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrofacial dysostosis syndrome of Rodriguez" RELATED [OMIM:201170]
synonym: "acrofacial dysostosis, Rodríguez type" RELATED [Orphanet:1788]
synonym: "acrofacial dysostosis, syndrome of Rodriguez" EXACT [DOID:0060383]
synonym: "Rodriguez lethal acrofacial dysostosis syndrome" RELATED [OMIM:201170]
xref: DOID:0060383 {source="MONDO:equivalentTo"}
xref: GARD:496 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:1788", source="Orphanet:1788/attributed", source="Orphanet:1788/ntbt"}
xref: MEDGEN:349730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538183 {source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="Orphanet:1788/e"}
xref: OMIM:201170 {source="MONDO:equivalentTo", source="Orphanet:1788", source="DOID:0060383", source="Orphanet:1788/e"}
xref: Orphanet:1788 {source="MONDO:equivalentTo", source="DOID:0060383", source="OMIM:201170"}
xref: SCTID:720430002 {source="MONDO:equivalentTo"}
xref: UMLS:C1860119 {source="MEDGEN:349730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1788"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018237 {source="DC-OMIM:201170", source="DOID:0060383", source="Orphanet:1788"} ! acrofacial dysostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1788", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type" xsd:anyURI {source="GARD:0000496"}

[Term]
id: MONDO:0008715
name: acrofrontofacionasal dysostosis
def: "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." [Orphanet:1784]
subset: gard_rare {source="GARD:484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1784"}
subset: ordo_malformation_syndrome {source="Orphanet:1784"}
subset: orphanet_rare {source="Orphanet:1784"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acro fronto facio nasal dysostosis" RELATED [GARD:0000484]
synonym: "acrofrontofacionasal dysostosis 1" NARROW [OMIM:201180]
synonym: "acrofrontofacionasal dysostosis syndrome" RELATED [GARD:0000484]
synonym: "acrofrontofacionasal dysostosis type 1" NARROW [MONDORULE:1, OMIM:201180]
synonym: "AFFN dysostosis" EXACT [DOID:0060226]
synonym: "Affn dysostosis 1" NARROW [OMIM:201180]
synonym: "cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly" RELATED [OMIM:201180]
synonym: "polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate" RELATED [GARD:0000484]
synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate" RELATED [OMIM:201180]
synonym: "Richieri-Costa-Colletto syndrome" EXACT [DOID:0060226, Orphanet:1784]
xref: DOID:0060226 {source="MONDO:equivalentTo"}
xref: GARD:484 {source="MONDO:GARD"}
xref: ICD10CM:Q75.1 {source="Orphanet:1784/attributed", source="Orphanet:1784/ntbt", source="Orphanet:1784"}
xref: MEDGEN:349729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538186 {source="DOID:0060226"}
xref: Orphanet:1784 {source="DOID:0060226", source="MONDO:equivalentTo", source="OMIM:201180"}
xref: SCTID:720408003 {source="MONDO:equivalentTo"}
xref: UMLS:C1860118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349729"}
is_a: MONDO:0018237 {source="Orphanet:1784"} ! acrofacial dysostosis

[Term]
id: MONDO:0008716
name: acrogeria
def: "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." [Wikipedia:Acrogeria]
subset: gard_rare {source="GARD:6543", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1202"}
subset: ordo_disorder {source="Orphanet:2500"}
subset: ordo_malformation_syndrome {source="Orphanet:2500"}
subset: orphanet_rare {source="Orphanet:2500"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrogeria, Gottron type" EXACT [OMIM:201200, Orphanet:2500]
synonym: "acrometageria" EXACT [OMIM:201200, Orphanet:2500]
synonym: "familial acrogeria" RELATED [GARD:0006543]
synonym: "Gottron Syndrome" EXACT [NORD:1202]
synonym: "Gottron syndrome" EXACT [Orphanet:2500]
synonym: "Metageria" RELATED [OMIM:201200]
xref: GARD:6543 {source="MONDO:GARD"}
xref: ICD10CM:L90.8 {source="Orphanet:2500/attributed", source="Orphanet:2500/ntbt", source="Orphanet:2500"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538187 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"}
xref: NORD:1202 {source="MONDO:NORD"}
xref: OMIM:201200 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"}
xref: Orphanet:2500 {source="MONDO:equivalentTo", source="OMIM:201200"}
xref: SCTID:238872007 {source="MONDO:equivalentTo"}
xref: UMLS:C0406584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96063"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-2825-0621"} ! hereditary disease
is_a: MONDO:0005093 {source="https://orcid.org/0000-0002-2825-0621"} ! skin disorder
is_a: MONDO:0019303 {source="Orphanet:2500"} ! premature aging syndrome

[Term]
id: MONDO:0008717
name: acromesomelic dysplasia 2C, Hunter-Thompson type
def: "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal." [Orphanet:968]
subset: gard_rare {source="GARD:506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:968"}
subset: ordo_malformation_syndrome {source="Orphanet:968"}
subset: orphanet_rare {source="Orphanet:968"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acromesomelic dwarfism" EXACT [DOID:0080051, Orphanet:968]
synonym: "acromesomelic dysplasia 2C, Hunter-Thompson type" EXACT [OMIM:201250, OMIM:genemap2]
synonym: "acromesomelic dysplasia Hunter Thompson type" RELATED [GARD:0000506]
synonym: "acromesomelic dysplasia, Hunter-Thompson type" EXACT [MONDO:Lexical, OMIM:201250]
synonym: "AMDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201250]
xref: DOID:0080051 {source="MONDO:equivalentTo"}
xref: GARD:506 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:968", source="Orphanet:968/attributed", source="Orphanet:968/ntbt"}
xref: MEDGEN:419681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:201250 {source="MONDO:equivalentTo", source="Orphanet:968", source="Orphanet:968/e", source="DOID:0080051"}
xref: Orphanet:968 {source="OMIM:201250", source="MONDO:equivalentTo"}
xref: UMLS:C2930970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419681"}
is_a: MONDO:0019696 {source="DC-OMIM:201250", source="DOID:0080051", source="OMIM:201250", source="Orphanet:968"} ! acromesomelic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008718
name: Morvan syndrome
def: "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." [Orphanet:83467]
subset: gard_rare {source="GARD:9766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83467"}
subset: orphanet_rare {source="Orphanet:83467"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" EXACT [Orphanet:83467]
synonym: "Morvan's fibrillary chorea" EXACT [Orphanet:83467]
xref: EFO:1001897 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9766 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:83467", source="Orphanet:83467/ntbt"}
xref: MEDGEN:1632829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:83467 {source="MONDO:equivalentTo"}
xref: SCTID:763803004 {source="MONDO:equivalentTo"}
xref: UMLS:C3854373 {source="MEDGEN:1632829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019119 {source="EFO:1001897", source="Orphanet:83467"} ! muscular channelopathy

[Term]
id: MONDO:0008719
name: acrorenal syndrome, autosomal recessive
def: "Autosomal recessive form of acrorenal syndrome." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:15130", source="MONDO:GARD"}
subset: rare
synonym: "acrorenal syndrome autosomal recessive" RELATED [GARD:0000514]
synonym: "acrorenal syndrome recessive" RELATED [GARD:0000514]
synonym: "acrorenal syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:201310]
synonym: "autosomal recessive acrorenal syndrome" EXACT [MONDO:design_pattern]
synonym: "Curran syndrome" RELATED [GARD:0000514]
xref: GARD:15130 {source="MONDO:GARD"}
xref: MEDGEN:163241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535666 {source="MONDO:equivalentTo"}
xref: OMIM:201310 {source="MONDO:equivalentTo"}
xref: Orphanet:971 {source="OMIM:201310"}
xref: UMLS:C0796290 {source="MONDO:equivalentTo", source="MEDGEN:163241", source="MONDO:MEDGEN"}
is_a: MONDO:0007059 {source="MONDO:Redundant", source="Orphanet:971/btnt"} ! acrorenal syndrome
intersection_of: MONDO:0007059 ! acrorenal syndrome
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0008720
name: congenital isolated adrenocorticotropic hormone deficiency
def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." [DOID:0080150, PMID:27041067, Wikipedia:Adrenocorticotropic_hormone_deficiency]
subset: gard_rare {source="GARD:5727", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199296"}
subset: orphanet_rare {source="Orphanet:199296"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTH deficiency, isolated" RELATED [MONDO:Lexical, OMIM:201400]
synonym: "adrenocorticotropic hormone deficiency" EXACT [MONDO:ambiguous, OMIM:201400]
synonym: "congenital isolated ACTH deficiency" RELATED [Orphanet:199296]
synonym: "congenital isolated adrenocorticotropic hormone deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "IAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201400]
synonym: "isolated ACTH deficiency" RELATED [GARD:0005727]
synonym: "isolated adrenocorticotropic hormone deficiency" RELATED [GARD:0005727]
xref: DOID:0080150 {source="MONDO:equivalentTo"}
xref: EFO:1001979 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5727 {source="MONDO:GARD"}
xref: HP:0011748 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E23.6 {source="Orphanet:199296", source="Orphanet:199296/attributed", source="Orphanet:199296/ntbt"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535668 {source="MONDO:equivalentTo"}
xref: OMIM:201400 {source="Orphanet:199296", source="MONDO:equivalentTo", source="Orphanet:199296/e", source="DOID:0080150"}
xref: Orphanet:199296 {source="MONDO:equivalentTo", source="OMIM:201400"}
xref: SCTID:237692001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137968"}
is_a: MONDO:0005152 {source="DOID:0080150", source="EFO:1001979", source="MONDO:Redundant"} ! hypopituitarism
is_a: MONDO:0019824 {source="MONDO:Redundant", source="Orphanet:199296"} ! non-acquired pituitary hormone deficiency
intersection_of: MONDO:0019824 ! non-acquired pituitary hormone deficiency
intersection_of: disease_has_basis_in_disruption_of GO:0051458 ! corticotropin secretion
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11596 {source="MONDO:mim2gene_medgen"} ! TBX19
property_value: IAO:0000589 "congenital isolated adrenocorticotropic hormone deficiency (disease)" xsd:string

[Term]
id: MONDO:0008721
name: medium chain acyl-CoA dehydrogenase deficiency
def: "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention." [Orphanet:42]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:540", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:42"}
subset: orphanet_rare {source="Orphanet:42"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACADM deficiency" EXACT [OMIM:201450, Orphanet:42]
synonym: "ACADMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201450]
synonym: "acyl-CoA dehydrogenase medium chain deficiency of" RELATED [GARD:0000540]
synonym: "Acyl-CoA dehydrogenase, medium chain, deficiency of" EXACT [OMIM:201450, OMIM:genemap2]
synonym: "acyl-CoA dehydrogenase, medium-chain deficiency" EXACT [NCIT:C84538]
synonym: "acyl-CoA dehydrogenase, medium-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201450]
synonym: "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" EXACT [Orphanet:42]
synonym: "Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:201450]
synonym: "MCAD" EXACT ABBREVIATION [NCIT:C84538]
synonym: "MCAD deficiency" EXACT [OMIM:201450, Orphanet:42]
synonym: "MCADD" EXACT ABBREVIATION [Orphanet:42]
synonym: "Mcadh deficiency" RELATED [OMIM:201450]
synonym: "medium chain acyl CoA dehydrogenase deficiency" RELATED [GARD:0000540]
synonym: "medium chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL []
synonym: "medium chain acyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:42]
synonym: "medium-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84538]
synonym: "medium-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84538]
xref: DOID:0080153 {source="MONDO:equivalentTo"}
xref: GARD:540 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:42", source="Orphanet:42/attributed", source="Orphanet:42/ntbt"}
xref: ICD10CM:E71.311 {source="MONDO:equivalentTo"}
xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:65086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536038 {source="Orphanet:42", source="MONDO:equivalentTo", source="Orphanet:42/e"}
xref: NANDO:2200513 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84538 {source="MONDO:equivalentTo"}
xref: OMIM:201450 {source="Orphanet:42", source="DOID:0080153", source="MONDO:equivalentTo", source="Orphanet:42/e"}
xref: Orphanet:42 {source="OMIM:201450", source="MONDO:equivalentTo"}
xref: SCTID:128596003 {source="MONDO:equivalentTo"}
xref: UMLS:C0220710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65086"}
is_a: MONDO:0017714 {source="Orphanet:42"} ! acyl-CoA dehydrogenase deficiency
intersection_of: MONDO:0003847 ! hereditary disease
intersection_of: disease_has_basis_in_disruption_of GO:0070991 ! medium-chain fatty acyl-CoA dehydrogenase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/89 {source="MONDO:mim2gene_medgen"} ! ACADM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008722
name: short chain acyl-CoA dehydrogenase deficiency
def: "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." [Orphanet:26792]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4822", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1709"}
subset: ordo_disorder {source="Orphanet:26792"}
subset: orphanet_rare {source="Orphanet:26792"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACADS deficiency" EXACT [Orphanet:26792]
synonym: "Acads deficiency" RELATED [OMIM:201470]
synonym: "ACADSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201470]
synonym: "acyl-CoA dehydrogenase, short-chain deficiency" EXACT [NCIT:C84539]
synonym: "acyl-CoA dehydrogenase, short-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201470]
synonym: "lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:201470]
synonym: "SCAD" EXACT ABBREVIATION [NCIT:C84539]
synonym: "SCAD deficiency" EXACT [Orphanet:26792]
synonym: "Scad deficiency" RELATED [OMIM:201470]
synonym: "SCADD" EXACT ABBREVIATION [Orphanet:26792]
synonym: "Scadh deficiency" RELATED [OMIM:201470]
synonym: "Short Chain Acyl CoA Dehydrogenase Deficiency" EXACT [NORD:1709]
synonym: "short chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL []
synonym: "short-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0004822]
synonym: "short-chain acyl-CoA dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539]
synonym: "short-chain acyl-coenzyme A dehydrogenase deficiency" RELATED [GARD:0004822]
synonym: "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539]
xref: DOID:0080154 {source="MONDO:equivalentTo"}
xref: GARD:4822 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:26792", source="Orphanet:26792/attributed", source="Orphanet:26792/ntbt"}
xref: ICD10CM:E71.312 {source="MONDO:equivalentTo"}
xref: MEDGEN:90998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537596 {source="MONDO:equivalentTo", source="Orphanet:26792", source="Orphanet:26792/e"}
xref: NANDO:2200514 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84539 {source="MONDO:equivalentTo"}
xref: NORD:1709 {source="MONDO:NORD"}
xref: OMIM:201470 {source="DOID:0080154", source="MONDO:equivalentTo", source="Orphanet:26792", source="Orphanet:26792/e"}
xref: Orphanet:26792 {source="OMIM:201470", source="MONDO:equivalentTo"}
xref: UMLS:C0342783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90998"}
is_a: MONDO:0017714 {source="Orphanet:26792"} ! acyl-CoA dehydrogenase deficiency
intersection_of: MONDO:0003847 ! hereditary disease
intersection_of: disease_has_basis_in_disruption_of GO:0016937 ! short-chain fatty acyl-CoA dehydrogenase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/90 {source="MONDO:mim2gene_medgen"} ! ACADS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0004822"}

[Term]
id: MONDO:0008723
name: very long chain acyl-CoA dehydrogenase deficiency
def: "An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." [Orphanet:26793]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5508", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1827", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:26793"}
subset: orphanet_rare {source="Orphanet:26793"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACADVLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201475]
synonym: "acyl-CoA dehydrogenase, very long-chain deficiency" EXACT [NCIT:C98647]
synonym: "acyl-CoA dehydrogenase, very long-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201475]
synonym: "Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)" EXACT [NORD:1827]
synonym: "very long chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL []
synonym: "very long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C98647]
synonym: "very long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C98647]
synonym: "VLCAD" EXACT ABBREVIATION [NCIT:C98647]
synonym: "VLCAD deficiency" EXACT [OMIM:201475, Orphanet:26793]
synonym: "VLCADD" EXACT ABBREVIATION [Orphanet:26793]
xref: DOID:0080155 {source="MONDO:equivalentTo"}
xref: GARD:5508 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:26793", source="Orphanet:26793/attributed", source="Orphanet:26793/ntbt"}
xref: ICD10CM:E71.310 {source="MONDO:equivalentTo"}
xref: MEDGEN:854382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200512 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201139 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98647 {source="MONDO:equivalentTo"}
xref: NORD:1827 {source="MONDO:NORD"}
xref: OMIM:201475 {source="DOID:0080155", source="MONDO:equivalentTo", source="Orphanet:26793", source="Orphanet:26793/e"}
xref: Orphanet:26793 {source="MONDO:equivalentTo", source="OMIM:201475"}
xref: SCTID:237997005 {source="MONDO:equivalentTo"}
xref: UMLS:C3887523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854382"}
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis
intersection_of: MONDO:0003847 ! hereditary disease
intersection_of: disease_has_basis_in_disruption_of GO:0017099 ! very-long-chain fatty acyl-CoA dehydrogenase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/92 {source="MONDO:mim2gene_medgen"} ! ACADVL

[Term]
id: MONDO:0008724
name: adducted thumbs-arthrogryposis syndrome, Christian type
def: "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." [Orphanet:2952]
subset: gard_rare {source="GARD:10277", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2952"}
subset: ordo_malformation_syndrome {source="Orphanet:2952"}
subset: orphanet_rare {source="Orphanet:2952"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adducted thumbs syndrome" RELATED [OMIM:201550]
xref: GARD:10277 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:2952", source="Orphanet:2952/attributed", source="Orphanet:2952/ntbt"}
xref: MEDGEN:929724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:201550 {source="MONDO:equivalentTo", source="Orphanet:2952", source="Orphanet:2952/e"}
xref: Orphanet:2952 {source="OMIM:201550", source="MONDO:equivalentTo"}
xref: UMLS:C4304055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929724"}
is_a: MONDO:0015168 {source="Orphanet:2952"} ! arthrogryposis multiplex congenita
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:2952", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations

[Term]
id: MONDO:0008725
name: congenital lipoid adrenal hyperplasia due to STAR deficency
def: "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." [Orphanet:90790]
subset: gard_rare {source="GARD:1465", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90790"}
subset: orphanet_rare {source="Orphanet:90790"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal hyperplasia 1" RELATED [OMIM:201710]
synonym: "CLAH" EXACT ABBREVIATION [Orphanet:90790]
synonym: "congenital adrenal hyperplasia lipoid" RELATED [GARD:0001465]
synonym: "LCAH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201710]
synonym: "lipoid adrenal hyperplasia" EXACT [OMIM:201710, OMIM:genemap2]
synonym: "lipoid congenital adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:201710]
synonym: "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism" RELATED [OMIM:201710]
xref: GARD:1465 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:90790", source="Orphanet:90790/attributed", source="Orphanet:90790/ntbt"}
xref: MEDGEN:83341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537027 {source="Orphanet:90790", source="Orphanet:90790/e"}
xref: OMIM:201710 {source="Orphanet:90790", source="MONDO:equivalentTo", source="Orphanet:90790/e"}
xref: Orphanet:418 {source="OMIM:201710"}
xref: Orphanet:90790 {source="MONDO:equivalentTo", source="OMIM:201710"}
xref: SCTID:44231009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83341"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0018479 {source="Orphanet:90790"} ! congenital adrenal hyperplasia
is_a: MONDO:0019852 {source="Orphanet:90790"} ! inherited primary ovarian failure
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11359 {source="MONDO:mim2gene_medgen"} ! STAR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008726
name: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:63269"}
subset: rare
synonym: "ABS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201750]
synonym: "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:201750]
synonym: "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis" EXACT [Orphanet:63269]
xref: GARD:16665 {source="MONDO:GARD"}
xref: MEDGEN:461449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C178415 {source="MONDO:equivalentTo"}
xref: OMIM:201750 {source="MONDO:equivalentTo"}
xref: Orphanet:63269 {source="MONDO:equivalentTo", source="OMIM:201750"}
xref: UMLS:C3150099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461449"}
is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis
intersection_of: MONDO:0008803 ! Antley-Bixler syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9208 ! POR
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:201750"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9208 {source="MONDO:mim2gene_medgen"} ! POR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008727
name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
def: "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." [Orphanet:90791]
subset: gard_rare {source="GARD:9152", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90791"}
subset: orphanet_rare {source="Orphanet:90791"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-beta HSD deficiency" EXACT [NCIT:C131088]
synonym: "3-Beta-HSD deficiency" RELATED [OMIM:201810]
synonym: "3-Beta-hydroxysteroid dehydrogenase deficiency" RELATED [OMIM:201810]
synonym: "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF" RELATED [OMIM:201810]
synonym: "3b-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152]
synonym: "adrenal hyperplasia 2" RELATED [OMIM:201810]
synonym: "adrenal hyperplasia II" RELATED [GARD:0009152]
synonym: "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency" RELATED [OMIM:201810]
synonym: "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency" RELATED [OMIM:201810]
synonym: "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" EXACT [Orphanet:90791]
synonym: "HSD3B deficiency" RELATED [GARD:0009152]
synonym: "type II 3-beta-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152]
xref: GARD:9152 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:90791/attributed", source="Orphanet:90791/ntbt", source="Orphanet:90791"}
xref: MEDGEN:452446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538236 {source="MONDO:equivalentTo"}
xref: NANDO:1200398 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200371 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131088 {source="MONDO:equivalentTo"}
xref: OMIM:201810 {source="Orphanet:90791", source="MONDO:equivalentTo", source="Orphanet:90791/e"}
xref: Orphanet:418 {source="OMIM:201810"}
xref: Orphanet:90791 {source="MONDO:equivalentTo", source="OMIM:201810"}
xref: SCTID:54470008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452446"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0018479 {source="MESH:C538236", source="MONDO:Redundant", source="Orphanet:90791"} ! congenital adrenal hyperplasia
intersection_of: MONDO:0018479 ! congenital adrenal hyperplasia
intersection_of: disease_has_basis_in_disruption_of GO:0102175 ! 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5218 {source="MONDO:mim2gene_medgen"} ! HSD3B2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0008728
name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
def: "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." [Orphanet:90794]
subset: gard_rare {source="GARD:12665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90794"}
subset: orphanet_rare {source="Orphanet:90794"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "21 hydroxylase deficiency" RELATED [GARD:0005757]
synonym: "21-hydroxylase deficiency" RELATED [OMIM:201910]
synonym: "21-OHD" EXACT [NCIT:C131087]
synonym: "adrenal hyperplasia 3" RELATED [OMIM:201910]
synonym: "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency" RELATED [OMIM:201910]
synonym: "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" RELATED [GARD:0005757]
synonym: "classic 21-OHD CAH" EXACT [Orphanet:90794]
synonym: "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" EXACT CLINGEN_LABEL []
synonym: "congenital adrenal hyperplasia 1" RELATED [OMIM:201910]
synonym: "congenital adrenal hyperplasia due to 21-hydroxylase deficiency" RELATED [GARD:0005757]
synonym: "CYP21 deficiency" RELATED [GARD:0005757, OMIM:201910]
synonym: "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency" RELATED [OMIM:201910]
xref: GARD:12665 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:90794", source="Orphanet:90794/attributed", source="Orphanet:90794/ntbt"}
xref: MEDGEN:424833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535979 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:1200399 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200374 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131087 {source="MONDO:equivalentTo"}
xref: OMIM:201910 {source="GARD:0005757", source="MONDO:equivalentTo", source="Orphanet:90794", source="Orphanet:90794/e"}
xref: Orphanet:418 {source="OMIM:201910"}
xref: Orphanet:90794 {source="MONDO:equivalentTo", source="OMIM:201910"}
xref: Orphanet:95698 {source="OMIM:201910"}
xref: SCTID:124221007 {source="MONDO:equivalentTo"}
xref: SCTID:717261006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C2936858 {source="MEDGEN:424833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0018479 {source="Orphanet:90794"} ! congenital adrenal hyperplasia
relationship: disease_has_basis_in_disruption_of GO:0004509 ! steroid 21-monooxygenase activity
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2600 {source="MONDO:mim2gene_medgen"} ! CYP21A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0008729
name: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
def: "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." [Orphanet:90795]
subset: gard_rare {source="GARD:5658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90795"}
subset: orphanet_rare {source="Orphanet:90795"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010]
synonym: "adrenal hyperplasia 4" RELATED [OMIM:202010]
synonym: "adrenal hyperplasia hypertensive form" RELATED [GARD:0005658]
synonym: "adrenal hyperplasia IV" RELATED [GARD:0005658]
synonym: "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" EXACT [OMIM:202010, OMIM:genemap2]
synonym: "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency" RELATED [OMIM:202010]
synonym: "adrenal hyperplasia, hypertensive form" RELATED [OMIM:202010]
synonym: "CAH due to 11-beta-hydroxylase deficiency" EXACT [Orphanet:90795]
synonym: "CYP11B1 deficiency" EXACT [Orphanet:90795]
synonym: "P450C11B1 deficiency" RELATED [OMIM:202010]
synonym: "steroid 11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010]
xref: GARD:5658 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:90795", source="Orphanet:90795/attributed", source="Orphanet:90795/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10000002 {source="Orphanet:90795", source="Orphanet:90795/e"}
xref: MEDGEN:82783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535978 {source="MONDO:equivalentTo", source="Orphanet:90795", source="Orphanet:90795/e"}
xref: NANDO:1200400 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200372 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131085 {source="MONDO:equivalentTo"}
xref: OMIM:202010 {source="MONDO:equivalentTo", source="Orphanet:90795", source="Orphanet:90795/e"}
xref: Orphanet:418 {source="OMIM:202010"}
xref: Orphanet:90795 {source="OMIM:202010", source="MONDO:equivalentTo"}
xref: SCTID:124214007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268292 {source="MEDGEN:82783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0018479 {source="MESH:C535978", source="Orphanet:90795"} ! congenital adrenal hyperplasia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2591 {source="MONDO:mim2gene_medgen"} ! CYP11B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0008730
name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
def: "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." [Orphanet:90793]
subset: gard_rare {source="GARD:1469", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90793"}
subset: orphanet_rare {source="Orphanet:90793"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17,20-lyase deficiency, isolated" RELATED [OMIM:202110]
synonym: "17-Alpha-Hydroxylase deficiency" RELATED [OMIM:202110]
synonym: "17-alpha-hydroxylase/17,20-lyase deficiency" EXACT [OMIM:202110, OMIM:genemap2]
synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete" RELATED [OMIM:202110]
synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial" RELATED [OMIM:202110]
synonym: "adrenal hyperplasia 5" RELATED [OMIM:202110]
synonym: "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency" RELATED [OMIM:202110]
synonym: "CAH due to 17-alpha-hydroxylase deficiency" EXACT [Orphanet:90793]
synonym: "combined 17-hydroxylase/17,20-lyase deficiency" EXACT [Orphanet:90793]
synonym: "congenital adrenal hyperplasia type 5" RELATED [GARD:0001469]
xref: GARD:1469 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:90793", source="Orphanet:90793/attributed", source="Orphanet:90793/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200401 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200373 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:202110 {source="MONDO:equivalentTo", source="Orphanet:90793", source="Orphanet:90793/e"}
xref: Orphanet:418 {source="OMIM:202110"}
xref: Orphanet:90793 {source="OMIM:202110", source="MONDO:equivalentTo"}
xref: SCTID:124220008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268285 {source="MEDGEN:82782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0018479 {source="Orphanet:90793", source="https://orcid.org/0000-0001-5208-3432"} ! congenital adrenal hyperplasia
relationship: excluded_subClassOf MONDO:0019852 {source="Orphanet:90793", source="https://orcid.org/0000-0001-5208-3432"} ! inherited primary ovarian failure
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2593 {source="MONDO:mim2gene_medgen"} ! CYP17A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency" xsd:string

[Term]
id: MONDO:0008731
name: familial adrenal hypoplasia with absent pituitary luteinizing hormone
subset: gard_rare {source="GARD:16839", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:95700"}
subset: orphanet_rare {source="Orphanet:95700"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" RELATED [OMIM:202150]
synonym: "familial adrenal hypoplasia with absent pituitary LH" EXACT [Orphanet:95700]
synonym: "familial adrenal hypoplasia, miniature type" EXACT [Orphanet:95700]
xref: GARD:16839 {source="MONDO:GARD"}
xref: ICD10CM:E27.1 {source="Orphanet:95700", source="Orphanet:95700/attributed", source="Orphanet:95700/ntbt"}
xref: MEDGEN:348510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565976 {source="MONDO:equivalentTo"}
xref: OMIM:202150 {source="MONDO:equivalentTo", source="Orphanet:95700", source="Orphanet:95700/e"}
xref: Orphanet:95700 {source="MONDO:equivalentTo", source="OMIM:202150"}
xref: UMLS:C1859978 {source="MEDGEN:348510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:95700", source="Orphanet:95700/inferred"} ! adrenal gland disorder
is_a: MONDO:0015129 {source="Orphanet:95700", source="Orphanet:95700/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0020040 ! 46,XY disorder of sex development
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0008732
name: adrenal hypoplasia, cytomegalic type
subset: gard_rare {source="GARD:15131", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adrenal hypoplasia, cytomegalic type" EXACT [OMIM:202155]
xref: GARD:15131 {source="MONDO:GARD"}
xref: MEDGEN:348509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:202155 {source="MONDO:equivalentTo"}
xref: Orphanet:95702 {source="OMIM:202155"}
xref: UMLS:C1859977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348509"}
is_a: MONDO:0010264 {source="Orphanet:95702/btnt"} ! X-linked adrenal hypoplasia congenita

[Term]
id: MONDO:0008733
name: familial glucocorticoid deficiency
def: "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency." [Orphanet:361]
subset: gard_rare {source="GARD:2498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:361"}
subset: orphanet_rare {source="Orphanet:361"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202200]
synonym: "glucocorticoid deficiency" BROAD [MONDO:Lexical, MONDORULE:1, OMIM:202200]
xref: DOID:0080620 {source="MONDO:equivalentTo"}
xref: GARD:2498 {source="MONDO:GARD"}
xref: ICD10CM:E27.1 {source="Orphanet:361/attributed", source="Orphanet:361/ntbt", source="Orphanet:361"}
xref: MEDGEN:885955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565974 {source="MONDO:equivalentTo"}
xref: NCIT:C120446 {source="MONDO:equivalentTo"}
xref: OMIMPS:202200 {source="MONDO:equivalentTo"}
xref: Orphanet:361 {source="OMIM:202200", source="MONDO:equivalentTo"}
xref: SCTID:765326001 {source="MONDO:equivalentTo"}
xref: UMLS:C4054695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:885955"}
is_a: MONDO:0005495 {source="Orphanet:361", source="Orphanet:361/inferred"} ! adrenal gland disorder
is_a: MONDO:0015129 {source="Orphanet:361", source="Orphanet:361/inferred"} ! chronic primary adrenal insufficiency
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:202200"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency" xsd:anyURI {source="GARD:0002498"}

[Term]
id: MONDO:0008734
name: adrenocortical carcinoma, hereditary
def: "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:15132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202300]
synonym: "adrenocortical carcinoma, hereditary" EXACT [MONDO:Lexical, OMIM:202300]
synonym: "adrenocortical carcinoma, paediatric" RELATED OMO:0003005 []
synonym: "adrenocortical carcinoma, pediatric" RELATED [OMIM:202300]
synonym: "hereditary adrenal cortex carcinoma" EXACT [MONDO:patterns/hereditary]
xref: GARD:15132 {source="MONDO:GARD"}
xref: MEDGEN:348508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565972 {source="MONDO:equivalentTo"}
xref: OMIM:202300 {source="MONDO:equivalentTo"}
xref: Orphanet:1501 {source="OMIM:202300"}
xref: UMLS:C1859972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348508"}
is_a: MONDO:0006639 {source="MONDO:Redundant", source="Orphanet:1501/btnt"} ! adrenal cortex carcinoma
intersection_of: MONDO:0006639 ! adrenal cortex carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53

[Term]
id: MONDO:0008735
name: adrenocortical unresponsiveness to ACTH with postreceptor defect
subset: gard_rare {source="GARD:15133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adrenocortical unresponsiveness to ACTH with postreceptor defect" EXACT [OMIM:202355]
synonym: "familial glucocorticoid deficiency due to defect distal to ACTH receptor" RELATED [OMIM:202355]
xref: GARD:15133 {source="MONDO:GARD"}
xref: MEDGEN:348507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565971 {source="MONDO:equivalentTo"}
xref: OMIM:202355 {source="MONDO:equivalentTo"}
xref: Orphanet:361 {source="OMIM:202355"}
xref: UMLS:C1859971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348507"}
is_a: MONDO:0008733 {source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency

[Term]
id: MONDO:0008736
name: peroxisome biogenesis disorder 2B
subset: gard_rare {source="GARD:15134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PBD2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202370]
synonym: "peroxisome biogenesis disorder 2B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:202370]
synonym: "peroxisome biogenesis disorder type 2B" EXACT [MONDORULE:4, OMIM:202370]
xref: DOID:0080622 {source="MONDO:equivalentTo"}
xref: GARD:15134 {source="MONDO:GARD"}
xref: MEDGEN:763148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155751 {source="MONDO:equivalentTo"}
xref: OMIM:202370 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:202370"}
xref: Orphanet:772 {source="OMIM:202370"}
xref: UMLS:C3550234 {source="MONDO:equivalentTo", source="MEDGEN:763148", source="MONDO:MEDGEN"}
is_a: MONDO:0100262 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX5 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:202370", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 {source="MONDO:mim2gene_medgen"} ! PEX5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0008737
name: congenital afibrinogenemia
def: "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." [Orphanet:98880]
subset: gard_rare {source="GARD:5761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:739"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98880"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "afibrinogenemia" RELATED [GARD:0005761]
synonym: "afibrinogenemia congenital" RELATED [GARD:0005761]
synonym: "afibrinogenemia, congenital" RELATED [OMIM:202400]
synonym: "factor I deficiency" NARROW [DOID:2236]
synonym: "familial afibrinogenemia" RELATED [Orphanet:98880]
synonym: "fibrinogen deficiency" EXACT [DOID:2236]
synonym: "hypofibrinogenemia, congenital" RELATED [OMIM:202400]
xref: DOID:2236 {source="MONDO:equivalentTo"}
xref: GARD:5761 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="DOID:2236", source="Orphanet:98880/attributed", source="Orphanet:98880/ntbt", source="Orphanet:98880"}
xref: MEDGEN:749036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000347 {source="MONDO:equivalentTo", source="DOID:2236"}
xref: NANDO:2200672 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26692 {source="DOID:2236"}
xref: NCIT:C98130 {source="MONDO:equivalentTo", source="DOID:2236"}
xref: NORD:739 {source="MONDO:NORD"}
xref: OMIM:202400 {source="Orphanet:98880/e", source="MONDO:equivalentTo", source="DOID:2236", source="Orphanet:98880"}
xref: Orphanet:101041 {source="OMIM:202400"}
xref: Orphanet:335 {source="OMIM:202400"}
xref: Orphanet:98880 {source="MONDO:equivalentTo", source="OMIM:202400"}
xref: SCTID:154818001 {source="MONDO:equivalentTo"}
xref: SCTID:278504009 {source="DOID:2236"}
xref: SCTID:29718007 {source="DOID:2236"}
xref: SCTID:359727008 {source="DOID:2236"}
xref: UMLS:C2584774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:749036"}
is_a: MONDO:0002243 {source="MESH:D000347"} ! hemorrhagic disease
is_a: MONDO:0014452 ! familial dysfibrinogenemia

[Term]
id: MONDO:0008738
name: aganglionosis, total intestinal
def: "A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder." [NCIT:C101074, PMID:596929]
subset: n_of_one
synonym: "aganglionosis, total intestinal" EXACT [OMIM:202550]
synonym: "total intestinal aganglionosis" EXACT [NCIT:C101074]
xref: MEDGEN:83378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538058 {source="MONDO:equivalentTo"}
xref: NANDO:1200460 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200948 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C101074 {source="MONDO:equivalentTo"}
xref: OMIM:202550 {source="MONDO:equivalentTo"}
xref: UMLS:C0345240 {source="MEDGEN:83378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_shares_features_of MONDO:0018309 {source="NCIT:C101074"} ! Hirschsprung disease
relationship: excluded_subClassOf MONDO:0018309 {source="NCIT:C101074", source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease

[Term]
id: MONDO:0008739
name: agenesis of cerebral white matter
synonym: "agenesis of cerebral white matter" EXACT [OMIM:202600]
xref: MEDGEN:347986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:202600 {source="MONDO:equivalentTo"}
xref: UMLS:C1859969 {source="MONDO:equivalentTo", source="MEDGEN:347986", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008740
name: agnathia-otocephaly complex
def: "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." [Orphanet:990]
subset: gard_rare {source="GARD:9126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:990"}
subset: ordo_malformation_syndrome {source="Orphanet:990"}
subset: orphanet_rare {source="Orphanet:990"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agnathia-holoprosencephaly" RELATED [GARD:0009126]
synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [DOID:0060341, Orphanet:990]
synonym: "agnathia-otocephaly complex" EXACT [MONDO:Lexical, OMIM:202650]
synonym: "AGOTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202650]
synonym: "Dysgnathia Complex agnathia-holoprosencephaly" RELATED [OMIM:202650]
synonym: "dysgnathia complex agnathia-holoprosencephaly" EXACT [DOID:0060341, OMIM:202650]
synonym: "holoprosencephaly-agnathia" EXACT [DOID:0060341, OMIM:202650]
synonym: "otocephaly" EXACT [DOID:0060341, OMIM:202650]
xref: DOID:0060341 {source="MONDO:equivalentTo"}
xref: GARD:9126 {source="MONDO:GARD"}
xref: ICD10CM:Q18.2 {source="DOID:0060341"}
xref: ICD10CM:Q87.8 {source="Orphanet:990/attributed", source="Orphanet:990/ntbt", source="Orphanet:990"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124568 {source="MONDO:equivalentTo"}
xref: OMIM:202650 {source="DOID:0060341", source="Orphanet:990/e", source="MONDO:equivalentTo", source="Orphanet:990"}
xref: Orphanet:990 {source="DOID:0060341", source="OMIM:202650", source="MONDO:equivalentTo"}
xref: SCTID:48180002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78541"}
is_a: MONDO:0015159 {source="Orphanet:990"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:990", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9142 {source="MONDO:mim2gene_medgen"} ! PRRX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008741
name: PAGOD syndrome
def: "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." [Orphanet:991]
subset: gard_rare {source="GARD:3086", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:991"}
subset: ordo_malformation_syndrome {source="Orphanet:991"}
subset: orphanet_rare {source="Orphanet:991"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agonadism with multiple internal malformations" RELATED [OMIM:202660]
synonym: "Kennerknecht sorgo Oberhoffer syndrome" RELATED [GARD:0003086]
synonym: "PAGOD syndrome" EXACT [OMIM:202660]
synonym: "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" RELATED [GARD:0003086]
synonym: "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" EXACT [Orphanet:991]
xref: GARD:3086 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:991/attributed", source="Orphanet:991/ntbt", source="Orphanet:991"}
xref: MEDGEN:347985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537018 {source="MONDO:equivalentTo"}
xref: OMIM:202660 {source="Orphanet:991/e", source="MONDO:equivalentTo", source="Orphanet:991"}
xref: Orphanet:991 {source="OMIM:202660", source="MONDO:equivalentTo"}
xref: SCTID:722132007 {source="MONDO:equivalentTo"}
xref: UMLS:C1859967 {source="MEDGEN:347985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0015161 {source="Orphanet:991"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0020040 ! 46,XY disorder of sex development
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008742
name: autosomal dominant severe congenital neutropenia
def: "Autosomal dominant form of severe congenital neutropenia." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:9558", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:486"}
subset: orphanet_rare {source="Orphanet:486"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "severe congenital neutropenia autosomal dominant" RELATED [GARD:0009558]
synonym: "severe congenital neutropenia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0112130 {source="MONDO:equivalentTo"}
xref: GARD:9558 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:486/attributed", source="Orphanet:486/ntbt", source="Orphanet:486"}
xref: MEDGEN:1665322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C166155 {source="MONDO:equivalentTo"}
xref: Orphanet:486 {source="MONDO:equivalentTo", source="OMIM:202700"}
xref: UMLS:C4749612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1665322"}
is_a: MONDO:0018542 {source="DC-OMIM:202700", source="MONDO:Redundant", source="OMIM:202700", source="Orphanet:486"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant" xsd:anyURI {source="GARD:0009558"}

[Term]
id: MONDO:0008743
name: Stimmler syndrome
def: "Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood." [Orphanet:3199]
subset: gard_rare {source="GARD:5026", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3199"}
subset: ordo_malformation_syndrome {source="Orphanet:3199"}
subset: orphanet_rare {source="Orphanet:3199"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus" RELATED [GARD:0005026]
synonym: "ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus" RELATED [OMIM:202900]
synonym: "Stimmler syndrome" EXACT [OMIM:202900]
xref: GARD:5026 {source="MONDO:GARD"}
xref: MEDGEN:348505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565968 {source="MONDO:equivalentTo"}
xref: OMIM:202900 {source="Orphanet:3199", source="MONDO:equivalentTo", source="Orphanet:3199/e"}
xref: Orphanet:3199 {source="MONDO:equivalentTo", source="OMIM:202900"}
xref: SCTID:733072002 {source="MONDO:equivalentTo"}
xref: UMLS:C1859965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348505"}
is_a: MONDO:0015159 {source="Orphanet:3199"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3199", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008744
name: alar cartilages hypoplasia-coloboma-telecanthus syndrome
def: "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." [Orphanet:2007]
subset: gard_rare {source="GARD:588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2007"}
subset: ordo_malformation_syndrome {source="Orphanet:2007"}
subset: orphanet_rare {source="Orphanet:2007"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alar-nasal cartilages, coloboma of, with telecanthus" RELATED [OMIM:203000]
synonym: "coloboma of alar-nasal cartilages with telecanthus" RELATED [GARD:0000588]
synonym: "frontonasal dysplasia with alar clefts" RELATED [OMIM:203000]
xref: GARD:588 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:2007", source="Orphanet:2007/attributed", source="Orphanet:2007/ntbt"}
xref: MEDGEN:348504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535967 {source="MONDO:equivalentTo"}
xref: OMIM:203000 {source="MONDO:equivalentTo", source="Orphanet:2007", source="Orphanet:2007/e"}
xref: Orphanet:2007 {source="OMIM:203000", source="MONDO:equivalentTo"}
xref: UMLS:C1859964 {source="MEDGEN:348504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2007"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2007", source="Orphanet:2007/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008745
name: oculocutaneous albinism type 1A
def: "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." [Orphanet:79431]
subset: gard_rare {source="GARD:16721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79431"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism 1" RELATED [OMIM:203100]
synonym: "albinism, oculocutaneous, type 1A" RELATED [OMIM:203100]
synonym: "albinism, oculocutaneous, type IA" RELATED [MONDO:Lexical, OMIM:203100]
synonym: "OCA1A" EXACT ABBREVIATION [DOID:0070094, MONDO:Lexical, OMIM:203100, Orphanet:79431]
synonym: "oculocutaneous albinism caused by mutation in TYR" EXACT []
synonym: "oculocutaneous albinism caused by mutation in Tyr" EXACT [MONDO:design_pattern]
synonym: "oculocutaneous albinism type IA" RELATED [DOID:0070094]
synonym: "oculocutaneous albinism, type 1" RELATED [OMIM:203100]
synonym: "oculocutaneous albinism, tyrosinase-negative" EXACT [DOID:0070094, OMIM:203100]
synonym: "TYR oculocutaneous albinism" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Tyr oculocutaneous albinism" EXACT [MONDO:design_pattern]
synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [Orphanet:79431]
xref: DOID:0070094 {source="MONDO:equivalentTo"}
xref: GARD:16721 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:79431/attributed", source="Orphanet:79431/ntbt", source="Orphanet:79431"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1643910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168731 {source="MONDO:equivalentTo"}
xref: OMIM:203100 {source="Orphanet:79431/e", source="MONDO:equivalentTo", source="DOID:0070094", source="Orphanet:79431"}
xref: Orphanet:352731 {source="OMIM:203100"}
xref: Orphanet:79431 {source="OMIM:203100", source="MONDO:equivalentTo"}
xref: SCTID:6483008 {source="MONDO:equivalentTo"}
xref: UMLS:C4551504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643910"}
is_a: MONDO:0018135 {source="Orphanet:79431"} ! oculocutaneous albinism type 1
is_a: MONDO:0018910 {source="DOID:0070094", source="MONDO:Redundant", source="OMIM:203100", source="Orphanet:79431/inferred"} ! oculocutaneous albinism
is_a: MONDO:0040653 ! autosomal recessive ocular albinism
intersection_of: MONDO:0018910 ! oculocutaneous albinism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12442 ! TYR
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12442 {source="MONDO:mim2gene_medgen"} ! TYR

[Term]
id: MONDO:0008746
name: oculocutaneous albinism type 2
def: "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." [Orphanet:79432]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4038", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79432"}
subset: orphanet_rare {source="Orphanet:79432"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism 2" RELATED [OMIM:203200]
synonym: "albinism, Brown oculocutaneous" RELATED [OMIM:203200]
synonym: "albinism, oculocutaneous, type 2" RELATED [GARD:0004038]
synonym: "albinism, oculocutaneous, type II" RELATED [MONDO:Lexical, OMIM:203200]
synonym: "albinism, oculocutaneous, type II, modifier of" EXACT [OMIM:203200, OMIM:genemap2]
synonym: "Albinoidism" RELATED [GARD:0004038]
synonym: "Brown oculocutaneous albinism" RELATED [OMIM:203200]
synonym: "OCA2" EXACT ABBREVIATION [DOID:0070096, MONDO:Lexical, OMIM:203200, Orphanet:79432]
synonym: "oculocutaneous albinism type 2" EXACT CLINGEN_LABEL []
synonym: "oculocutaneous albinism type II" RELATED [DOID:0070096]
synonym: "oculocutaneous albinism tyrosinase positive" RELATED [GARD:0004038]
synonym: "oculocutaneous albinism, type 2" RELATED [OMIM:203200]
synonym: "oculocutaneous albinism, tyrosinase-positive" EXACT [DOID:0070096, OMIM:203200]
synonym: "tyrosinase-positive oculocutaneous albinism" RELATED [GARD:0004038]
xref: DOID:0070096 {source="MONDO:equivalentTo"}
xref: GARD:4038 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:79432/attributed", source="Orphanet:79432/ntbt", source="Orphanet:79432"}
xref: MEDGEN:82810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537730 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432"}
xref: OMIM:203200 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432", source="DOID:0070096"}
xref: Orphanet:79432 {source="OMIM:203200", source="MONDO:equivalentTo"}
xref: UMLS:C0268495 {source="MONDO:equivalentTo", source="MEDGEN:82810", source="MONDO:MEDGEN"}
is_a: MONDO:0018910 {source="DC-OMIM:203200", source="DOID:0070096", source="MESH:C537730", source="OMIM:203200", source="Orphanet:79432"} ! oculocutaneous albinism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2" xsd:anyURI {source="GARD:0004038"}

[Term]
id: MONDO:0008747
name: oculocutaneous albinism type 3
def: "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population." [Orphanet:79433]
subset: gard_rare {source="GARD:4039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79433"}
subset: orphanet_rare {source="Orphanet:79433"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism 3" RELATED [OMIM:203290]
synonym: "albinism, oculocutaneous, type 3" RELATED [GARD:0004039, OMIM:203290]
synonym: "albinism, oculocutaneous, type III" RELATED [MONDO:Lexical, OMIM:203290]
synonym: "OCA3" EXACT ABBREVIATION [DOID:0070097, MONDO:Lexical, OMIM:203290, Orphanet:79433]
synonym: "oculocutaneous albinism caused by mutation in TYRP1" EXACT [MONDO:design_pattern]
synonym: "oculocutaneous albinism type 3" EXACT CLINGEN_LABEL []
synonym: "oculocutaneous albinism type III" RELATED [DOID:0070097]
synonym: "oculocutaneous albinism, type 3" RELATED [OMIM:203290]
synonym: "Red oculocutaneous albinism" EXACT [Orphanet:79433]
synonym: "ROCA" RELATED ABBREVIATION [GARD:0009641]
synonym: "rufous OCA" RELATED [GARD:0009641]
synonym: "rufous oculocutaneous albinism" EXACT [DOID:0070097, OMIM:203290, Orphanet:79433]
synonym: "TYRP1 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Xanthism" RELATED [GARD:0009641, OMIM:203290]
synonym: "xanthous oculocutaneous albinism" EXACT [Orphanet:79433]
xref: DOID:0070097 {source="MONDO:equivalentTo"}
xref: GARD:4039 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:79433/attributed", source="Orphanet:79433/ntbt", source="Orphanet:79433"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537189 {source="Orphanet:79433/e", source="Orphanet:79433"}
xref: MESH:C537731 {source="Orphanet:79433/e", source="MONDO:equivalentTo", source="Orphanet:79433"}
xref: OMIM:203290 {source="DOID:0070097", source="Orphanet:79433/e", source="MONDO:equivalentTo", source="Orphanet:79433"}
xref: OMIM:278400 {source="MONDO:equivalentObsolete", source="GARD:0009641"}
xref: Orphanet:79433 {source="MONDO:equivalentTo", source="OMIM:203290"}
xref: SCTID:63450009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87450"}
is_a: MONDO:0018910 {source="DC-OMIM:203290", source="DOID:0070097", source="MESH:C537731", source="MONDO:Redundant", source="OMIM:203290", source="Orphanet:79433"} ! oculocutaneous albinism
intersection_of: MONDO:0018910 ! oculocutaneous albinism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12450 ! TYRP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12450 {source="MONDO:mim2gene_medgen"} ! TYRP1

[Term]
id: MONDO:0008748
name: Hermansky-Pudlak syndrome 1
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells" RELATED [OMIM:203300]
synonym: "Delta storage pool disease" RELATED [OMIM:203300]
synonym: "Hermansky-Pudlak syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:203300]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS1" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 1" EXACT [DOID:0060539, MONDORULE:1, OMIM:203300]
synonym: "HPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203300]
synonym: "HPS1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060539 {source="MONDO:equivalentTo"}
xref: GARD:18331 {source="MONDO:GARD"}
xref: MEDGEN:419514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538539 {source="MONDO:equivalentTo"}
xref: NCIT:C150367 {source="MONDO:equivalentTo"}
xref: OMIM:203300 {source="MONDO:equivalentTo", source="DOID:0060539"}
xref: Orphanet:231500 {source="OMIM:203300"}
xref: Orphanet:79430 {source="OMIM:203300"}
xref: UMLS:C2931875 {source="MEDGEN:419514", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016501 {source="Orphanet:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis
is_a: MONDO:0019312 {source="DOID:0060539", source="MESH:C538539", source="MONDO:Redundant", source="NCIT:C150367", source="OMIM:203300"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5163 ! HPS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5163 {source="MONDO:mim2gene_medgen"} ! HPS1

[Term]
id: MONDO:0008749
name: pseudohypoparathyroidism type 2
def: "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response." [Orphanet:94090]
subset: gard_rare {source="GARD:10682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94090"}
subset: orphanet_rare {source="Orphanet:94090"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Php 2" RELATED [OMIM:203330]
synonym: "PHP II" RELATED [GARD:0010682]
synonym: "PHP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203330]
synonym: "pseudohypoparathyroidism, type II" RELATED [MONDO:Lexical, OMIM:203330]
xref: GARD:10682 {source="MONDO:GARD"}
xref: ICD10CM:E20.1 {source="Orphanet:94090", source="Orphanet:94090/attributed", source="Orphanet:94090/ntbt"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:444371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548077 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"}
xref: NANDO:1201078 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:203330 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"}
xref: Orphanet:94090 {source="OMIM:203330", source="MONDO:equivalentTo"}
xref: SCTID:42183005 {source="MONDO:equivalentTo"}
xref: UMLS:C2932717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444371"}
is_a: MONDO:0019992 {source="MONDO:0018700-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2" xsd:anyURI {source="GARD:0010682"}

[Term]
id: MONDO:0008750
name: microcephaly-albinism-digital anomalies syndrome
def: "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." [Orphanet:2513]
subset: gard_rare {source="GARD:3604", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2513"}
subset: ordo_malformation_syndrome {source="Orphanet:2513"}
subset: orphanet_rare {source="Orphanet:2513"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism-microcephaly digital anomalies syndrome" RELATED [GARD:0003604]
synonym: "albinism-microcephaly-digital anomalies syndrome" RELATED [OMIM:203340]
synonym: "Castro Gago-Pombo-Novo syndrome" EXACT [Orphanet:2513]
synonym: "microcephaly-albinism-digital anomalies syndrome" EXACT [OMIM:203340]
xref: GARD:3604 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2513", source="Orphanet:2513/attributed", source="Orphanet:2513/ntbt"}
xref: MEDGEN:395372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537322 {source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"}
xref: OMIM:203340 {source="MONDO:equivalentTo", source="Orphanet:2513", source="Orphanet:2513/e"}
xref: Orphanet:2513 {source="OMIM:203340", source="MONDO:equivalentTo"}
xref: SCTID:719377004 {source="MONDO:equivalentTo"}
xref: UMLS:C1859910 {source="MEDGEN:395372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2513"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2513", source="Orphanet:2513/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome" xsd:anyURI {source="GARD:0003604"}

[Term]
id: MONDO:0008751
name: corticosterone methyloxidase type 1 deficiency
subset: gard_rare {source="GARD:5660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "18 alpha hydroxylase deficiency" RELATED [GARD:0005660]
synonym: "18 Hydroxylase deficiency" RELATED [GARD:0005660]
synonym: "18-hydroxycorticosterone dehydrogenase deficiency" RELATED []
synonym: "18-Hydroxylase deficiency" RELATED [OMIM:203400]
synonym: "18-hydroxylase deficiency" RELATED []
synonym: "aldosterone deficiency 1" RELATED [GARD:0005660, OMIM:203400]
synonym: "aldosterone deficiency due to 18-hydroxylase defect" RELATED []
synonym: "aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency" RELATED []
synonym: "aldosterone deficiency due to defect in 18 hydroxylase" RELATED [GARD:0005660]
synonym: "aldosterone deficiency due to defect in steroid 18-Hydroxylase" RELATED [OMIM:203400]
synonym: "CAH - 18-hydroxylase deficiency" RELATED []
synonym: "CMO 1 deficiency" RELATED [GARD:0005660, OMIM:203400]
synonym: "CMO I deficiency" RELATED []
synonym: "CMO II deficiency" RELATED []
synonym: "corticosterone 18-monooxygenase deficiency" EXACT []
synonym: "corticosterone methyl oxidase type I deficiency" RELATED []
synonym: "corticosterone methyl oxidase type II deficiency" RELATED []
synonym: "corticosterone methyloxidase type 1 deficiency" EXACT [GARD:0005660]
synonym: "corticosterone methyloxidase type I deficiency" RELATED [OMIM:203400]
synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [OMIM:203400]
synonym: "hypoaldosteronism, congenital, due to cmo i deficiency" EXACT [OMIM:203400, OMIM:genemap2]
synonym: "steroid 18-hydroxylase deficiency" RELATED [OMIM:203400]
xref: DOID:0080626 {source="MONDO:equivalentTo"}
xref: GARD:5660 {source="MONDO:GARD"}
xref: MEDGEN:82784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:203400 {source="MONDO:equivalentTo", source="GARD:0005660"}
xref: Orphanet:427 {source="OMIM:203400"}
xref: Orphanet:99763 {source="OMIM:203400", source="GARD:0005660"}
xref: SCTID:47757001 {source="MONDO:equivalentTo"}
xref: UMLS:C0268293 {source="MEDGEN:82784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypoaldosteronism
relationship: disease_has_basis_in_disruption_of GO:0008202 ! steroid metabolic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2592 {source="MONDO:mim2gene_medgen"} ! CYP11B2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6813" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency" xsd:anyURI {source="GARD:0005660"}

[Term]
id: MONDO:0008752
name: Alexander disease
def: "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." [Orphanet:58]
subset: gard_rare {source="GARD:5774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:749"}
subset: ordo_disorder {source="Orphanet:58"}
subset: orphanet_rare {source="Orphanet:58"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alexander disease" EXACT [MONDO:Lexical, OMIM:203450]
synonym: "Alexander's disease" EXACT [DOID:4252]
synonym: "alexanders leukodystrophy" RELATED [GARD:0005774]
synonym: "ALXDRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203450]
synonym: "AxD" EXACT [Orphanet:58]
synonym: "megalencephaly in infancy accompanied by progressive spasticity and dementia" RELATED [GARD:0005774]
xref: DOID:4252 {source="MONDO:equivalentTo"}
xref: GARD:5774 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:58/attributed", source="Orphanet:58/ntbt", source="Orphanet:58"}
xref: icd11.foundation:2023359698 {source="Orphanet:58", source="MONDO:equivalentTo"}
xref: MEDGEN:78724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D038261 {source="Orphanet:58", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"}
xref: NANDO:1200554 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200835 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84545 {source="MONDO:equivalentTo", source="DOID:4252"}
xref: NORD:749 {source="MONDO:NORD"}
xref: OMIM:203450 {source="Orphanet:58", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"}
xref: Orphanet:58 {source="OMIM:203450", source="MONDO:equivalentTo"}
xref: SCTID:81854007 {source="MONDO:equivalentTo", source="DOID:4252"}
xref: UMLS:C0270726 {source="MEDGEN:78724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="Orphanet:58", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
is_a: MONDO:0019046 {source="DOID:4252", source="NCIT:C84545", source="Orphanet:58"} ! leukodystrophy
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:58", source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4235 {source="MONDO:mim2gene_medgen"} ! GFAP
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5774/alexander-disease" xsd:anyURI {source="GARD:0005774"}

[Term]
id: MONDO:0008753
name: alkaptonuria
def: "A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." [Orphanet:56]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:750"}
subset: ordo_disorder {source="Orphanet:56"}
subset: orphanet_rare {source="Orphanet:56"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aku" RELATED [MONDO:Lexical, OMIM:203500]
synonym: "alcaptonuria" EXACT [DOID:9270]
synonym: "alkaptonuria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:203500]
synonym: "alkaptonuric ochronosis" RELATED [GARD:0005775]
synonym: "deficiency of homogentisicase" RELATED [DOID:9270]
synonym: "hereditary ochronosis" EXACT [Orphanet:56]
synonym: "homogentisate 1,2-dioxygenase deficiency" EXACT [DOID:9270]
synonym: "homogentisic acid oxidase deficiency" EXACT [OMIM:203500, Orphanet:56]
synonym: "homogentisic acidura" RELATED [GARD:0005775]
synonym: "ochronosis, hereditary" RELATED [GARD:0005775]
xref: DOID:9270 {source="MONDO:equivalentTo"}
xref: GARD:5775 {source="MONDO:GARD"}
xref: ICD10CM:E70.2 {source="Orphanet:56/inclusion", source="Orphanet:56", source="Orphanet:56/ntbt"}
xref: ICD10CM:E70.29 {source="DOID:9270"}
xref: icd11.foundation:1761652827 {source="Orphanet:56", source="MONDO:equivalentTo"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10001689 {source="Orphanet:56", source="Orphanet:56/e"}
xref: MEDGEN:1413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537862 {source="Orphanet:56", source="Orphanet:56/e"}
xref: MESH:D000474 {source="Orphanet:56", source="DOID:9270", source="MONDO:equivalentTo", source="Orphanet:56/e"}
xref: NANDO:2200504 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84546 {source="DOID:9270", source="MONDO:equivalentTo"}
xref: NORD:750 {source="MONDO:NORD"}
xref: OMIM:203500 {source="Orphanet:56", source="DOID:9270", source="MONDO:equivalentTo", source="Orphanet:56/e"}
xref: Orphanet:56 {source="DOID:9270", source="MONDO:equivalentTo", source="OMIM:203500"}
xref: SCTID:124207005 {source="DOID:9270"}
xref: SCTID:190689001 {source="DOID:9270"}
xref: SCTID:24250001 {source="DOID:9270"}
xref: SCTID:267418001 {source="DOID:9270"}
xref: SCTID:360378009 {source="DOID:9270", source="MONDO:equivalentTo"}
xref: SCTID:360381004 {source="DOID:9270"}
xref: SCTID:367388008 {source="DOID:9270"}
xref: UMLS:C0002066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1413"}
is_a: MONDO:0004736 {source="DOID:9270", source="MESH:D000474", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0017307 {source="Orphanet:56", source="PMID:33340416"} ! disorder of tyrosine metabolism
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0020203 {source="Orphanet:56", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pigmented conjunctival lesion
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4892 {source="MONDO:mim2gene_medgen"} ! HGD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria" xsd:anyURI {source="GARD:0005775"}

[Term]
id: MONDO:0008754
name: alopecia - contractures - dwarfism - intellectual disability syndrome
def: "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." [Orphanet:1005]
subset: gard_rare {source="GARD:605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1005"}
subset: ordo_malformation_syndrome {source="Orphanet:1005"}
subset: orphanet_rare {source="Orphanet:1005"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACD intellectual disability syndrome" RELATED [OMIM:203550]
synonym: "ACD mental retardation syndrome" RELATED DEPRECATED [OMIM:203550]
synonym: "ACD-intellectual disability syndrome" EXACT [Orphanet:1005]
synonym: "alopecia-contractures-dwarfism intellectual disability syndrome" RELATED [OMIM:203550]
synonym: "alopecia-contractures-dwarfism mental retardation syndrome" RELATED DEPRECATED [OMIM:203550]
xref: GARD:605 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1005", source="Orphanet:1005/attributed", source="Orphanet:1005/ntbt"}
xref: MEDGEN:167081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537051 {source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"}
xref: OMIM:203550 {source="MONDO:equivalentTo", source="Orphanet:1005", source="Orphanet:1005/e"}
xref: Orphanet:1005 {source="OMIM:203550", source="MONDO:equivalentTo"}
xref: UMLS:C0795895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167081"}
is_a: MONDO:0019287 {source="Orphanet:1005"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1005", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome" xsd:anyURI {source="GARD:0000605"}

[Term]
id: MONDO:0008755
name: Moynahan syndrome
subset: gard_rare {source="GARD:606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2574"}
subset: ordo_malformation_syndrome {source="Orphanet:2574"}
subset: orphanet_rare {source="Orphanet:2574"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia epilepsy oligophrenia syndrome of Moynahan" RELATED [GARD:0000606]
synonym: "alopecia-epilepsy-intellectual disability syndrome, Moynahan type" EXACT [Orphanet:2574]
synonym: "alopecia-epilepsy-oligophrenia syndrome of Moynahan" RELATED [OMIM:203600]
synonym: "Moynahan alopecia syndrome" RELATED [OMIM:203600]
xref: GARD:606 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:2574/attributed", source="Orphanet:2574/ntbt", source="Orphanet:2574"}
xref: MEDGEN:120535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537052 {source="MONDO:equivalentTo"}
xref: OMIM:203600 {source="Orphanet:2574", source="MONDO:equivalentTo", source="Orphanet:2574/e"}
xref: Orphanet:2574 {source="MONDO:equivalentTo", source="OMIM:203600"}
xref: UMLS:C0265328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120535"}
is_a: MONDO:0015650 {source="Orphanet:2574"} ! epilepsy syndrome
is_a: MONDO:0019289 {source="Orphanet:2574"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2574", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008756
name: alopecia - intellectual disability syndrome
def: "An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." [Orphanet:2850]
subset: gard_rare {source="GARD:612", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2850"}
subset: orphanet_rare {source="Orphanet:2850"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia intellectual disbility syndrome 1" RELATED [GARD:0000612]
synonym: "alopecia with severe intellectual deficit" RELATED [GARD:0000612]
synonym: "alopecia-intellectual disability syndrome" EXACT [OMIMPS:203650]
synonym: "alopecia-mental retardation syndrome" EXACT DEPRECATED [OMIMPS:203650]
synonym: "Amr syndrome" RELATED [OMIM:203650]
synonym: "AMR syndrome 1" RELATED [GARD:0000612]
synonym: "Perniola-Krajewska-Carnevale syndrome" EXACT [Orphanet:2850]
xref: DOID:0080627 {source="MONDO:equivalentTo"}
xref: GARD:612 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2850", source="Orphanet:2850/attributed", source="Orphanet:2850/ntbt"}
xref: MEDGEN:444019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:203650 {source="MONDO:equivalentTo"}
xref: Orphanet:2850 {source="OMIM:203650", source="MONDO:equivalentTo"}
xref: SCTID:716191002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444019"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2850", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:203650"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008757
name: alopecia universalis congenita
def: "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." [Orphanet:701]
subset: gard_rare {source="GARD:614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:701"}
subset: orphanet_rare {source="Orphanet:701"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia areata universalis" RELATED [GARD:0000614]
synonym: "alopecia universalis" RELATED [OMIM:203655]
synonym: "alopecia universalis congenita" EXACT [DOID:0050634, MONDO:Lexical, OMIM:203655]
synonym: "ALUNC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203655]
synonym: "atrichia, generalised" EXACT OMO:0003005 []
synonym: "atrichia, generalized" EXACT [OMIM:203655]
synonym: "AU" RELATED ABBREVIATION [GARD:0000614]
xref: DOID:0050634 {source="MONDO:equivalentTo"}
xref: GARD:614 {source="MONDO:GARD"}
xref: ICD10CM:L63.1 {source="Orphanet:701", source="Orphanet:701/specific", source="Orphanet:701/e"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10001767 {source="Orphanet:701", source="Orphanet:701/e"}
xref: MEDGEN:349262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537055 {source="Orphanet:701", source="MONDO:equivalentTo", source="Orphanet:701/e"}
xref: OMIM:203655 {source="Orphanet:701/btnt", source="Orphanet:701", source="DOID:0050634", source="MONDO:equivalentTo"}
xref: Orphanet:701 {source="MONDO:equivalentTo", source="OMIM:203655"}
xref: SCTID:86166000 {source="MONDO:equivalentTo"}
xref: UMLS:C1859877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349262"}
is_a: MONDO:0000005 {source="OMIM:203655"} ! alopecia, isolated
intersection_of: MONDO:0000005 ! alopecia, isolated
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5172 ! HR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5172 {source="MONDO:mim2gene_medgen"} ! HR

[Term]
id: MONDO:0008758
name: mitochondrial DNA depletion syndrome 4a
def: "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." [Orphanet:726]
subset: gard_rare {source="GARD:5783", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:752"}
subset: ordo_disorder {source="Orphanet:726"}
subset: orphanet_rare {source="Orphanet:726"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AHD" EXACT ABBREVIATION [NCIT:C35257]
synonym: "AHS" EXACT ABBREVIATION [NCIT:C35257]
synonym: "Alper syndrome" EXACT [NCIT:C35257]
synonym: "Alper's disease" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Alper's syndrome" EXACT [DOID:1442, NCIT:C35257]
synonym: "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis" RELATED [OMIM:203700]
synonym: "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis" RELATED OMO:0003005 []
synonym: "Alpers Disease" EXACT [NORD:752]
synonym: "Alpers disease" EXACT [NCIT:C35257]
synonym: "Alpers Huttenlocher disease" EXACT [NCIT:C35257]
synonym: "Alpers Huttenlocher syndrome" EXACT [NCIT:C35257]
synonym: "Alpers progressive infantile poliodystrophy" EXACT [DOID:1442]
synonym: "Alpers progressive sclerosing poliodystrophy" EXACT [Orphanet:726]
synonym: "Alpers syndrome" EXACT [MONDO:0001960, OMIM:203700, Orphanet:726]
synonym: "Alpers' disease or gray-matter degeneration" EXACT [DOID:1442]
synonym: "Alpers-Huttenlocher syndrome" EXACT [DOID:1442, OMIM:203700]
synonym: "diffuse cerebral degeneration in infancy" RELATED [GARD:0005783]
synonym: "infantile poliodystrophy" RELATED [GARD:0005783]
synonym: "mitochondrial DNA depletion syndrome 4A" EXACT [DOID:1442]
synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type)" RELATED [MONDO:Lexical, OMIM:203700]
synonym: "mitochondrial DNA depletion syndrome type 4a" EXACT [DOID:0080122, MONDORULE:4]
synonym: "MTDPS4A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203700]
synonym: "neuronal Degeneration of childhood with liver disease, progressive" RELATED [OMIM:203700]
synonym: "PNDC" RELATED ABBREVIATION [GARD:0005783]
synonym: "Poliodystrophia cerebri progressiva" RELATED [GARD:0005783]
synonym: "progressive cerebral poliodystrophy" RELATED [GARD:0005783]
synonym: "progressive neuronal degeneration of childhood with liver disease" EXACT [Orphanet:726]
synonym: "progressive sclerosing poliodystrophy" EXACT [DOID:1442]
xref: DOID:0080122 {source="MONDO:equivalentTo"}
xref: DOID:1442 {source="MONDO:equivalentObsolete"}
xref: GARD:5783 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:726/inclusion", source="Orphanet:726", source="Orphanet:726/ntbt"}
xref: ICD10CM:G31.81 {source="DOID:1442"}
xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062943 {source="Orphanet:726", source="Orphanet:726/e"}
xref: MEDGEN:60012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002549 {source="DOID:1442", source="Orphanet:726", source="Orphanet:726/e"}
xref: NCIT:C35257 {source="DOID:1442", source="MONDO:equivalentTo"}
xref: NORD:752 {source="MONDO:NORD"}
xref: OMIM:203700 {source="DOID:0080122", source="DOID:1442", source="MONDO:equivalentTo", source="Orphanet:726", source="Orphanet:726/e"}
xref: Orphanet:726 {source="MONDO:equivalentTo", source="OMIM:203700"}
xref: SCTID:20415001 {source="DOID:1442", source="MONDO:equivalentTo"}
xref: UMLS:C0205710 {source="MEDGEN:60012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C35257"} ! syndromic disease
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0005559 {source="DOID:1442", source="MONDO:Redundant", source="Orphanet:726/inferred"} ! neurodegenerative disease
is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:203700", source="Orphanet:726", source="Orphanet:726/inferred"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:726"} ! inherited neurodegenerative disorder
is_a: MONDO:0100033 ! metabolic epilepsy
is_a: MONDO:0100512 {source="Orphanet:726", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
relationship: disease_has_feature HP:0007313 ! Cerebral degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG

[Term]
id: MONDO:0008759
name: oxoglutaricaciduria
def: "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." [Orphanet:31]
subset: gard_rare {source="GARD:617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31"}
subset: orphanet_rare {source="Orphanet:31"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2 alpha ketoglutarate dehydrogenase deficiency" RELATED [GARD:0000617]
synonym: "2-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740]
synonym: "Alpha KGD deficiency" RELATED [GARD:0000617]
synonym: "ALPHA-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740]
synonym: "Alpha-ketoglutarate dehydrogenase deficiency" EXACT [Orphanet:31]
synonym: "Alpha-Kgd deficiency" RELATED [OMIM:203740]
synonym: "oxoglutarate dehydrogenase deficiency" EXACT [OMIM:203740, OMIM:genemap2]
synonym: "Oxoglutaric aciduria" RELATED [OMIM:203740]
xref: DOID:0081326 {source="MONDO:equivalentTo"}
xref: GARD:617 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:31", source="Orphanet:31/attributed", source="Orphanet:31/ntbt"}
xref: MEDGEN:414553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536582 {source="Orphanet:31", source="MONDO:equivalentTo", source="Orphanet:31/e"}
xref: OMIM:203740 {source="Orphanet:31", source="MONDO:equivalentTo", source="Orphanet:31/e"}
xref: Orphanet:31 {source="OMIM:203740", source="MONDO:equivalentTo"}
xref: SCTID:733630004 {source="MONDO:equivalentTo"}
xref: UMLS:C2752074 {source="MEDGEN:414553", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016790 {source="Orphanet:31"} ! tricarboxylic acid cycle disorder
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
is_a: MONDO:0100033 ! metabolic epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8124 {source="MONDO:mim2gene_medgen"} ! OGDH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008760
name: beta-ketothiolase deficiency
def: "Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence." [Orphanet:134]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:872", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:134"}
subset: orphanet_rare {source="Orphanet:134"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2-Methyl-3-hydroxybutyric acidemia" RELATED [OMIM:203750]
synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT [DOID:14723]
synonym: "3-ketothiolase deficiency" EXACT [DOID:14723, Orphanet:134]
synonym: "3-Ktd deficiency" RELATED [OMIM:203750]
synonym: "3-oxothiolase deficiency" EXACT [DOID:14723, OMIM:203750, Orphanet:134]
synonym: "Alpha methylacetoacetic aciduria" EXACT [Orphanet:134]
synonym: "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" EXACT [Orphanet:134]
synonym: "ALPHA-methylacetoacetic aciduria" RELATED [OMIM:203750]
synonym: "alpha-methylacetoaceticaciduria" EXACT [DOID:14723]
synonym: "Beta ketothiolase deficiency" RELATED [GARD:0000872]
synonym: "beta-ketothiolase deficiency" EXACT CLINGEN_LABEL [OMIM:203750]
synonym: "BKT" EXACT ABBREVIATION [NCIT:C98841]
synonym: "Mat deficiency" RELATED [OMIM:203750]
synonym: "mitochondrial acetoacetyl-CoA thiolase deficiency" EXACT [DOID:14723]
synonym: "mitochondrial acetoacetyl-Coa thiolase deficiency" RELATED [OMIM:203750]
synonym: "mitochondrial acetoacetyl-coenzyme A thiolase deficiency" EXACT [Orphanet:134]
synonym: "peroxisomal thiolase deficiency" EXACT [DOID:14723]
synonym: "T2 deficiency" EXACT [OMIM:203750, Orphanet:134]
xref: DOID:14723 {source="MONDO:equivalentTo"}
xref: GARD:872 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:134/attributed", source="Orphanet:134/ntbt", source="Orphanet:134"}
xref: MEDGEN:280689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535434 {source="MONDO:equivalentTo"}
xref: MESH:C535818 {source="DOID:14723"}
xref: NANDO:1200987 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200493 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98841 {source="MONDO:equivalentTo"}
xref: OMIM:203750 {source="DOID:14723", source="Orphanet:134/e", source="MONDO:equivalentTo", source="Orphanet:134"}
xref: Orphanet:134 {source="OMIM:203750", source="MONDO:equivalentTo"}
xref: SCTID:238067002 {source="DOID:14723"}
xref: UMLS:C1536500 {source="MEDGEN:280689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000688 {source="MONDO:Redundant", source="NCIT:C98841", source="Orphanet:134/inferred"} ! inborn organic aciduria
is_a: MONDO:0006025 {source="DOID:14723", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019215 {source="Orphanet:134"} ! classic organic aciduria
is_a: MONDO:0019229 {source="Orphanet:134"} ! inborn disorder of ketolysis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:203750", source="Orphanet:134"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/93 {source="MONDO:mim2gene_medgen"} ! ACAT1

[Term]
id: MONDO:0008761
name: obsolete alpha-2-deficient collagen disease
comment: This term was retired in GARD because was based in a single report in 1979 about a boy who could have another diagnosis.
synonym: "alpha-2-deficient collagen disease" EXACT [MONDO:0022423, OMIM:203760]
synonym: "Meigel disease" EXACT [OMIM:203760]
xref: MESH:C565963 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:203760 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1594" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0008762
name: autosomal recessive Alport syndrome
def: "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." [https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome]
subset: gard_rare {source="GARD:625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:88919"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88919"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alport syndrome 2, autosomal recessive" EXACT [OMIM:203780, OMIM:genemap2]
synonym: "Alport syndrome autosomal recessive" RELATED [GARD:0000625]
synonym: "Alport syndrome recessive type" RELATED [GARD:0000625]
synonym: "Alport syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:203780]
synonym: "nephropathy and deafness" RELATED [GARD:0000625]
xref: DOID:0110033 {source="MONDO:equivalentTo"}
xref: GARD:625 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:88919/attributed", source="Orphanet:88919/ntbt", source="Orphanet:88919"}
xref: MedDRA:10001843 {source="Orphanet:88919/e", source="Orphanet:88919"}
xref: MEDGEN:1648334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536587 {source="Orphanet:88919/e", source="Orphanet:88919"}
xref: OMIM:203780 {source="Orphanet:88919/e", source="MONDO:equivalentTo", source="DOID:0110033", source="Orphanet:88919"}
xref: Orphanet:63 {source="OMIM:203780"}
xref: Orphanet:88919 {source="OMIM:203780", source="MONDO:equivalentTo", source="DOID:0110033"}
xref: SCTID:717767009 {source="MONDO:equivalentTo"}
xref: UMLS:C4746745 {source="MEDGEN:1648334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0018965 {source="DC-OMIM:203780", source="DOID:0110033", source="MONDO:Redundant", source="Orphanet:88919"} ! Alport syndrome
intersection_of: MONDO:0018965 ! Alport syndrome
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:203780", source="Orphanet:88919"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome" xsd:anyURI {source="GARD:0000625"}

[Term]
id: MONDO:0008763
name: Alstrom syndrome
def: "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." [Orphanet:64]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5787", source="MONDO:GARD"}
subset: nord_rare {source="NORD:757", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64"}
subset: orphanet_rare {source="Orphanet:64"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:203800]
synonym: "ALSS" EXACT ABBREVIATION [OMIM:203800]
synonym: "Alstrom syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:203800]
synonym: "Alstrom's syndrome" EXACT [GARD:0005787]
synonym: "Alström Syndrome" EXACT [NORD:757]
synonym: "Alström syndrome" EXACT [NCIT:C84549]
xref: DOID:0050473 {source="MONDO:equivalentTo"}
xref: GARD:5787 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:64", source="Orphanet:64/attributed", source="Orphanet:64/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068783 {source="Orphanet:64", source="Orphanet:64/e"}
xref: MEDGEN:78675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056769 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="Orphanet:64/e"}
xref: NCIT:C84549 {source="DOID:0050473", source="MONDO:equivalentTo"}
xref: NORD:757 {source="MONDO:NORD"}
xref: OMIM:203800 {source="DOID:0050473", source="Orphanet:64", source="MONDO:equivalentTo", source="Orphanet:64/e"}
xref: Orphanet:64 {source="MONDO:equivalentTo", source="OMIM:203800"}
xref: SCTID:63702009 {source="DOID:0050473", source="MONDO:equivalentTo"}
xref: UMLS:C0268425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78675"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84549"} ! syndromic disease
is_a: MONDO:0005308 {source="PMID:16722803", source="PMID:18178628", source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0006025 {source="DOID:0050473", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: disease_has_feature HP:0000556 ! Retinal dystrophy
relationship: disease_has_feature HP:0000618 ! Blindness
relationship: disease_has_feature HP:0000855 {source="Orphanet:64"} ! Insulin resistance
relationship: disease_has_feature HP:0012211 {source="Orphanet:64"} ! Abnormal renal physiology
relationship: disease_has_major_feature HP:0001644 {source="Orphanet:64"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0005015 {source="Orphanet:64", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0005240 {source="MONDO:0019744-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: excluded_subClassOf MONDO:0015962 {source="Orphanet:64", source="https://orcid.org/0000-0001-5208-3432"} ! inherited renal tubular disease
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:64", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0020240 {source="Orphanet:64", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic retinitis pigmentosa
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:203800", source="Orphanet:64"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/428 {source="MONDO:mim2gene_medgen"} ! ALMS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI

[Term]
id: MONDO:0008764
name: Leber congenital amaurosis 1
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber 1" RELATED [OMIM:204000]
synonym: "amaurosis congenita of Leber I" EXACT [DOID:0110078]
synonym: "amaurosis congenita of Leber, type 1" RELATED [GARD:0000635]
synonym: "CRB" RELATED ABBREVIATION [GARD:0000635]
synonym: "GUCY2D Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA" RELATED ABBREVIATION [OMIM:204000]
synonym: "LCA1" EXACT ABBREVIATION [DOID:0110078, MONDO:Lexical, OMIM:204000]
synonym: "Leber congenital amaurosis 1" EXACT [MONDO:Lexical, OMIM:204000]
synonym: "Leber congenital amaurosis caused by mutation in GUCY2D" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 1" EXACT [DOID:0110078, MONDORULE:1, OMIM:204000]
synonym: "retinal blindness, congenital" RELATED [OMIM:204000]
xref: DOID:0110078 {source="MONDO:equivalentTo"}
xref: GARD:635 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110078"}
xref: MEDGEN:419026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:204000 {source="MONDO:equivalentTo", source="DOID:0110078"}
xref: UMLS:C2931258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419026"}
is_a: MONDO:0018998 {source="DC-OMIM:204000", source="DOID:0110078", source="MONDO:Redundant", source="OMIM:204000"} ! Leber congenital amaurosis
is_a: MONDO:0100453 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D-related recessive retinopathy
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 ! GUCY2D
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="MONDO:mim2gene_medgen"} ! GUCY2D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0008765
name: Leber congenital amaurosis 2
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:636", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber 2" RELATED [OMIM:204100]
synonym: "amaurosis congenita of Leber II" EXACT [DOID:0110016]
synonym: "amaurosis congenita of Leber, type 2" RELATED [GARD:0000636]
synonym: "LCA2" EXACT ABBREVIATION [DOID:0110016, MONDO:Lexical, OMIM:204100]
synonym: "Leber congenital amaurosis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:204100]
synonym: "Leber congenital amaurosis caused by mutation in RPE65" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 2" EXACT [DOID:0110016, MONDORULE:1, OMIM:204100]
synonym: "RPE65 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110016 {source="MONDO:equivalentTo"}
xref: GARD:636 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110016", source="MONDO:relatedTo"}
xref: MEDGEN:348473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536601 {source="MONDO:equivalentTo"}
xref: OMIM:204100 {source="DOID:0110016", source="MONDO:equivalentTo"}
xref: UMLS:C1859844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348473"}
is_a: MONDO:0018998 {source="DC-OMIM:204100", source="DOID:0110016", source="MESH:C536601", source="MONDO:Redundant", source="OMIM:204100"} ! Leber congenital amaurosis
is_a: MONDO:0100368 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65-related recessive retinopathy
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 ! RPE65
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="MONDO:mim2gene_medgen"} ! RPE65
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2" xsd:anyURI {source="GARD:0000636"}

[Term]
id: MONDO:0008766
name: amaurosis-hypertrichosis syndrome
def: "Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." [Orphanet:1021]
subset: gard_rare {source="GARD:637", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1021"}
subset: orphanet_rare {source="Orphanet:1021"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amaurosis congenita cone-rod type with congenital hypertrichosis" RELATED [GARD:0000637]
synonym: "amaurosis congenita, cone-rod type, with congenital hypertrichosis" RELATED [OMIM:204110]
xref: GARD:637 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:1021", source="Orphanet:1021/attributed", source="Orphanet:1021/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:341805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536604 {source="Orphanet:1021", source="MONDO:equivalentTo", source="Orphanet:1021/e"}
xref: OMIM:204110 {source="Orphanet:1021", source="MONDO:equivalentTo", source="Orphanet:1021/e", source="GARD:0000637"}
xref: Orphanet:1021 {source="OMIM:204110", source="MONDO:equivalentTo"}
xref: SCTID:720983002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857588 {source="MEDGEN:341805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="MESH:C536604/inferred", source="Orphanet:1021"} ! inherited retinal dystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis" xsd:anyURI {source="GARD:0000637"}

[Term]
id: MONDO:0008767
name: neuronal ceroid lipofuscinosis 3
def: "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C61258]
subset: gard_rare {source="GARD:5897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:843"}
subset: ordo_disorder {source="Orphanet:228346"}
subset: ordo_etiological_subtype {source="Orphanet:228346"}
subset: orphanet_rare {source="Orphanet:228346"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "batten disease" RELATED [OMIM:204200]
synonym: "ceroid lipofuscinosis, neuronal, 3" RELATED [MONDO:Lexical, OMIM:204200]
synonym: "ceroid lipofuscinosis, neuronal, type 3" EXACT [MONDORULE:1, OMIM:204200]
synonym: "CLN3" EXACT ABBREVIATION [DOID:0110731, MONDO:Lexical, OMIM:204200]
synonym: "CLN3 disease" RELATED [Orphanet:228346]
synonym: "CLN3 disease, juvenile" RELATED [GARD:0005897]
synonym: "CLN3 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Juvenile CLN3 Disease" EXACT [NORD:843]
synonym: "juvenile neuronal ceroid lipofuscinosis" RELATED EXCLUDE [DOID:0110731]
synonym: "neuronal ceroid lipofuscinosis 3" EXACT CLINGEN_LABEL []
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN3" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 3" EXACT [DOID:0110731, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, juvenile" RELATED [OMIM:204200]
synonym: "Spielmeyer Sjogren disease" RELATED [GARD:0005897]
synonym: "Spielmeyer-Sjogren disease" RELATED [OMIM:204200]
synonym: "Vogt Spielmeyer disease" RELATED [GARD:0005897]
synonym: "Vogt-Spielmeyer disease" RELATED [OMIM:204200]
xref: DOID:0110731 {source="MONDO:equivalentTo"}
xref: GARD:5897 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110731", source="Orphanet:228346/attributed", source="Orphanet:228346/ntbt", source="Orphanet:228346"}
xref: MEDGEN:155549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C61258 {source="MONDO:equivalentTo"}
xref: NORD:843 {source="MONDO:NORD"}
xref: OMIM:204200 {source="DOID:0110731", source="Orphanet:228346/e", source="MONDO:equivalentTo", source="Orphanet:228346"}
xref: Orphanet:228346 {source="DOID:0110731", source="OMIM:204200", source="MONDO:equivalentTo"}
xref: Orphanet:79264 {source="OMIM:204200"}
xref: UMLS:C0751383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155549"}
is_a: MONDO:0016295 {source="DOID:0110731", source="MONDO:Redundant", source="NCIT:C61258", source="OMIM:204200", source="Orphanet:228346/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="Orphanet:228346"} ! juvenile neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2074 ! CLN3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2074 {source="MONDO:mim2gene_medgen"} ! CLN3

[Term]
id: MONDO:0008768
name: ceroid lipofuscinosis, neuronal, 6B (Kufs type)
def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:6845", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:228340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult neuronal ceroid lipofuscinosis 4A" RELATED [GARD:0006845]
synonym: "autosomal recessive neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730]
synonym: "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:204300]
synonym: "CLN4A" EXACT ABBREVIATION [DOID:0110730, MONDO:Lexical, OMIM:204300]
synonym: "CLN4A disease" RELATED [Orphanet:228340]
synonym: "CLN6 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Kuf's disease type A" RELATED [GARD:0006845]
synonym: "Kuf's disease, autosomal recessive" RELATED [GARD:0006845]
synonym: "neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 4A" EXACT [DOID:0110730, MONDORULE:4]
xref: DOID:0110730 {source="MONDO:equivalentTo"}
xref: GARD:6845 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:228340", source="Orphanet:228340/attributed", source="Orphanet:228340/ntbt", source="DOID:0110730"}
xref: MEDGEN:1794137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:204300 {source="MONDO:equivalentTo", source="Orphanet:228340", source="DOID:0110730", source="Orphanet:228340/e"}
xref: Orphanet:228340 {source="OMIM:204300", source="MONDO:equivalentTo", source="DOID:0110730"}
xref: Orphanet:79262 {source="OMIM:204300"}
xref: UMLS:C5561927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794137"}
is_a: MONDO:0016295 {source="DOID:0110730", source="MONDO:Redundant", source="OMIM:204300", source="Orphanet:228340/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019260 {source="Orphanet:228340"} ! adult neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2077 ! CLN6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2077 {source="MONDO:mim2gene_medgen"} ! CLN6

[Term]
id: MONDO:0008769
name: neuronal ceroid lipofuscinosis 2
def: "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C85864]
subset: gard_rare {source="GARD:3045", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228349"}
subset: ordo_etiological_subtype {source="Orphanet:228349"}
subset: orphanet_rare {source="Orphanet:228349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 2" RELATED [MONDO:Lexical, OMIM:204500]
synonym: "ceroid lipofuscinosis, neuronal, 2, variable Age at onset" RELATED [OMIM:204500]
synonym: "ceroid lipofuscinosis, neuronal, type 2" EXACT [MONDORULE:1, OMIM:204500]
synonym: "CLN2" EXACT ABBREVIATION [DOID:0110726, MONDO:Lexical, OMIM:204500]
synonym: "CLN2 disease" RELATED [Orphanet:228349]
synonym: "CLN2 disease, juvenile (subtype)" RELATED [GARD:0003045]
synonym: "CLN2 disease, late infantile (subtype)" RELATED [GARD:0003045]
synonym: "Jansky-Bielschowsky disease" RELATED [OMIM:204500]
synonym: "late infantile neuronal ceroid lipofuscinosis" BROAD [NCIT:C85864]
synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT [DOID:0110726]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in TPP1" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [DOID:0110726, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, late infantile" RELATED [OMIM:204500]
synonym: "TPP1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110726 {source="MONDO:equivalentTo"}
xref: GARD:3045 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:228349/attributed", source="Orphanet:228349/ntbt", source="Orphanet:228349", source="DOID:0110726"}
xref: MEDGEN:406281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200153 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201242 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85864 {source="MONDO:equivalentTo"}
xref: OMIM:204500 {source="Orphanet:228349", source="MONDO:equivalentTo", source="DOID:0110726", source="Orphanet:228349/e"}
xref: Orphanet:168491 {source="OMIM:204500"}
xref: Orphanet:228349 {source="MONDO:equivalentTo", source="DOID:0110726", source="OMIM:204500"}
xref: Orphanet:79264 {source="OMIM:204500"}
xref: UMLS:C1876161 {source="MONDO:equivalentTo", source="MEDGEN:406281", source="MONDO:MEDGEN"}
is_a: MONDO:0015674 {source="Orphanet:228349"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0016295 {source="DOID:0110726", source="MONDO:Redundant", source="NCIT:C85864", source="OMIM:204500", source="Orphanet:228349/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="Orphanet:228349"} ! juvenile neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2073 ! TPP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2073 {source="MONDO:mim2gene_medgen"} ! TPP1

[Term]
id: MONDO:0008770
name: amelogenesis imperfecta type 1C
subset: gard_rare {source="GARD:15136", source="MONDO:GARD"}
subset: rare
synonym: "AI1C" EXACT ABBREVIATION [DOID:0110056, MONDO:Lexical, OMIM:204650]
synonym: "amelogenesis imperfecta type IC" EXACT [DOID:0110056]
synonym: "amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive" RELATED [OMIM:204650]
synonym: "amelogenesis imperfecta, local hypoplastic type, autosomal recessive" RELATED [OMIM:204650]
synonym: "amelogenesis imperfecta, type 1C" EXACT [MONDO:0000907]
synonym: "amelogenesis imperfecta, type IC" RELATED [MONDO:Lexical, OMIM:204650]
synonym: "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion" EXACT [DOID:0110056]
synonym: "autosomal recessive amelogenesis imperfecta local hypoplastic type" EXACT [DOID:0110056]
xref: DOID:0110056 {source="MONDO:equivalentTo"}
xref: GARD:15136 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110056"}
xref: MEDGEN:388763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567147 {source="MONDO:equivalentTo"}
xref: OMIM:204650 {source="MONDO:equivalentTo"}
xref: Orphanet:100031 {source="OMIM:204650"}
xref: UMLS:C2673923 {source="MONDO:equivalentTo", source="MEDGEN:388763", source="MONDO:MEDGEN"}
is_a: MONDO:0015047 {source="MONDO:Redundant", source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1
is_a: MONDO:0019507 {source="DOID:0110056", source="MESH:C567147", source="MONDO:Redundant", source="OMIM:204650"} ! amelogenesis imperfecta
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3344 {source="MONDO:mim2gene_medgen"} ! ENAM

[Term]
id: MONDO:0008771
name: amelogenesis imperfecta type 1G
def: "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." [Orphanet:1031]
subset: gard_rare {source="GARD:646", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1031"}
subset: ordo_malformation_syndrome {source="Orphanet:1031"}
subset: orphanet_rare {source="Orphanet:1031"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absent enamel, nephrocalcinosis and apparently normal calcium metabolism" RELATED [GARD:0000646]
synonym: "AI1G" EXACT ABBREVIATION [DOID:0110066, MONDO:Lexical, OMIM:204690]
synonym: "AIGFS" EXACT ABBREVIATION [DOID:0110066]
synonym: "amelogenesis imperfecta and gingival fibromatosis syndrome" EXACT [DOID:0110066]
synonym: "amelogenesis imperfecta and nephrocalcinosis" RELATED [GARD:0009860]
synonym: "amelogenesis imperfecta caused by mutation in FAM20A" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypoplastic type, IG" RELATED [GARD:0009860]
synonym: "amelogenesis imperfecta hypoplastic with nephrocalcinosis" EXACT [DOID:0110066]
synonym: "amelogenesis imperfecta nephrocalcinosis" RELATED [GARD:0000646]
synonym: "amelogenesis imperfecta type IG" EXACT [DOID:0110066]
synonym: "amelogenesis imperfecta, hypoplastic, with nephrocalcinosis" RELATED [OMIM:204690]
synonym: "amelogenesis imperfecta, type IG" RELATED [MONDO:Lexical, OMIM:204690]
synonym: "amelogenesis imperfecta, type IG (enamel-renal syndrome)" EXACT [OMIM:204690, OMIM:genemap2]
synonym: "amelogenesis imperfecta-gingival hyperplasia syndrome" EXACT [MONDO:0015750]
synonym: "amelogenesis imperfecta-nephrocalcinosis syndrome" RELATED [Orphanet:1031]
synonym: "enamel renal syndrome" RELATED [GARD:0000646]
synonym: "enamel-renal syndrome" EXACT [DOID:0110066, OMIM:204690]
synonym: "enamel-renal-gingival syndrome" EXACT [DOID:0110066, OMIM:204690]
synonym: "ers" EXACT [DOID:0110066]
synonym: "FAM20A amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "generalised enamel hypoplasia and renal dysfunction" RELATED OMO:0003005 []
synonym: "generalized enamel hypoplasia and renal dysfunction" RELATED [GARD:0000646]
xref: DOID:0110066 {source="MONDO:equivalentTo"}
xref: GARD:646 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:171836/attributed", source="Orphanet:171836/ntbt", source="Orphanet:171836", source="Orphanet:1031/attributed", source="Orphanet:1031/ntbt", source="DOID:0110066", source="Orphanet:1031"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:419162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538241 {source="Orphanet:1031/e", source="MONDO:equivalentTo", source="Orphanet:1031"}
xref: OMIM:204690 {source="Orphanet:1031/e", source="MONDO:equivalentTo", source="DOID:0110066", source="Orphanet:1031"}
xref: OMIM:614253 {source="Orphanet:171836", source="MONDO:equivalentObsolete", source="Orphanet:171836/e"}
xref: Orphanet:1031 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0110066", source="OMIM:204690"}
xref: Orphanet:171836 {source="MONDO:equivalentObsolete"}
xref: SCTID:109477002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931783 {source="MONDO:equivalentTo", source="MEDGEN:419162", source="MONDO:MEDGEN"}
is_a: MONDO:0019507 {source="DOID:0110066", source="MESH:C538241", source="MONDO:Redundant", source="OMIM:204690", source="Orphanet:171836"} ! amelogenesis imperfecta
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1031", source="Orphanet:1031/inferred"} ! disorder of development or morphogenesis
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23015 ! FAM20A
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:1031", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIM:204690"} ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23015 {source="MONDO:mim2gene_medgen"} ! FAM20A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3537" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008772
name: amelogenesis imperfecta type 2A1
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9495", source="MONDO:GARD"}
subset: rare
synonym: "AI2A1" EXACT ABBREVIATION [DOID:0110057, MESH:C538242, MONDO:Lexical, OMIM:204700]
synonym: "amelogenesis imperfecta caused by mutation in KLK4" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta pigmented hypomaturation type" RELATED [GARD:0009495]
synonym: "amelogenesis imperfecta pigmented hypomaturation type 1" EXACT [DOID:0110057]
synonym: "amelogenesis imperfecta type IIA1" EXACT [DOID:0110057]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA1" RELATED [MESH:C538242, MONDO:Lexical, OMIM:204700]
synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 1" RELATED [MESH:C538242, OMIM:204700]
synonym: "amelogenesis imperfecta, type IIA1" EXACT [OMIM:204700, OMIM:genemap2]
synonym: "KLK4 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110057 {source="MONDO:equivalentTo"}
xref: GARD:9495 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110057"}
xref: MEDGEN:436039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538242 {source="MONDO:equivalentTo"}
xref: MESH:C567146 {source="MONDO:equivalentTo"}
xref: OMIM:204700 {source="MONDO:equivalentTo", source="GARD:0009495", source="DOID:0110057"}
xref: Orphanet:100033 {source="OMIM:204700"}
xref: UMLS:C2673922 {source="MEDGEN:436039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2
is_a: MONDO:0019507 {source="DOID:0110057", source="MESH:C538242", source="MESH:C567146", source="MONDO:Redundant", source="OMIM:204700"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6365 ! KLK4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6365 {source="MONDO:mim2gene_medgen"} ! KLK4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type" xsd:anyURI {source="GARD:0009495"}

[Term]
id: MONDO:0008773
name: amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis
synonym: "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis" RELATED [GARD:0000763]
synonym: "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis" EXACT [OMIM:204730]
xref: MEDGEN:347955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565960 {source="MONDO:equivalentTo"}
xref: OMIM:204730 {source="MONDO:equivalentTo"}
xref: UMLS:C1859818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347955"}
is_a: MONDO:0003847 {source="MESH:C565960/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/763/amino-aciduria-with-mental-deficiency-dwarfism-muscular-dystrophy-osteoporosis-and-acidosis" xsd:anyURI {source="GARD:0000763"}

[Term]
id: MONDO:0008774
name: 2-aminoadipic 2-oxoadipic aciduria
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79154"}
subset: orphanet_rare {source="Orphanet:79154"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2-aminoadipic 2-oxoadipic aciduria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:204750]
synonym: "alpha-aminoadipic aciduria" EXACT [Orphanet:79154]
synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT [OMIM:204750, OMIM:genemap2]
synonym: "AMOXAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:204750]
synonym: "Ketoadipicaciduria" EXACT [OMIM:245130]
xref: DOID:0111453 {source="MONDO:equivalentTo"}
xref: GARD:16708 {source="MONDO:GARD"}
xref: ICD10CM:E72.3 {source="Orphanet:79154/attributed", source="Orphanet:79154/ntbt", source="Orphanet:79154"}
xref: MEDGEN:395350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565453 {source="MONDO:equivalentTo"}
xref: OMIM:204750 {source="Orphanet:79154/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:79154"}
xref: OMIM:245130 {source="MONDO:equivalentObsolete"}
xref: Orphanet:79154 {source="OMIM:204750", source="MONDO:equivalentTo"}
xref: UMLS:C1859817 {source="MEDGEN:395350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565453/inferred"} ! hereditary disease
is_a: MONDO:0017351 {source="Orphanet:79154"} ! inborn disorder of lysine and hydroxylysine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23537 {source="MONDO:mim2gene_medgen"} ! DHTKD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3796" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008775
name: Amobarbital, deficient N-hydroxylation of
synonym: "Amobarbital, deficient N-hydroxylation of" EXACT [OMIM:204800]
xref: MEDGEN:347241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565959 {source="MONDO:equivalentTo"}
xref: OMIM:204800 {source="MONDO:equivalentTo"}
xref: UMLS:C1859816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347241"}
is_a: MONDO:0003847 {source="MESH:C565959/inferred"} ! hereditary disease

[Term]
id: MONDO:0008776
name: amyloidosis of gingiva and conjunctiva, with intellectual disability
synonym: "amyloidosis of gingiva and conjunctiva with intellectual disability" RELATED [GARD:0000657]
synonym: "amyloidosis of gingiva and conjunctiva with mental retardation" RELATED DEPRECATED [GARD:0000657]
synonym: "amyloidosis of gingiva and conjunctiva, with intellectual disability" EXACT [OMIM:204850]
synonym: "amyloidosis of gingiva and conjunctiva, with mental retardation" EXACT DEPRECATED [OMIM:204850]
synonym: "Hornova Dlushosova syndrome" RELATED [GARD:0000657]
xref: MEDGEN:347240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565958 {source="MONDO:equivalentTo"}
xref: OMIM:204850 {source="MONDO:equivalentTo", source="GARD:0000657"}
xref: UMLS:C1859815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347240"}
is_a: MONDO:0003847 {source="MESH:C565958/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/657/amyloidosis-of-gingiva-and-conjunctiva-with-intellectual-disability" xsd:anyURI {source="GARD:0000657"}

[Term]
id: MONDO:0008777
name: gelatinous drop-like corneal dystrophy
def: "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." [Orphanet:98957]
subset: gard_rare {source="GARD:9647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98957"}
subset: orphanet_rare {source="Orphanet:98957"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloid corneal dystrophy, Japanese type" RELATED [GARD:0009647, OMIM:204870]
synonym: "amyloidosis corneal" RELATED [GARD:0009647]
synonym: "amyloidosis, corneal" RELATED [OMIM:204870]
synonym: "CDGDL" RELATED ABBREVIATION [GARD:0009647]
synonym: "Cdgdl" RELATED [OMIM:204870]
synonym: "corneal amyloidosis" EXACT [DOID:0060449, GARD:0009647]
synonym: "corneal dystrophy, gelatinous drop-like" RELATED [GARD:0009647, MONDO:Lexical, OMIM:204870]
synonym: "corneal dystrophy, lattice type 3" RELATED [GARD:0009647, OMIM:204870]
synonym: "GDCD" EXACT ABBREVIATION [DOID:0060449, Orphanet:98957]
synonym: "GDLD" RELATED ABBREVIATION [GARD:0009647, MONDO:Lexical, OMIM:204870]
synonym: "gelatinous drop-like corneal dystrophy" EXACT CLINGEN_LABEL [GARD:0009647]
synonym: "lattice corneal dystrophy type 3" RELATED [GARD:0009647]
synonym: "lattice corneal dystrophy, type 3" RELATED [OMIM:204870]
synonym: "primary familial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957]
synonym: "subepithelial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957]
xref: DOID:0060449 {source="MONDO:equivalentTo"}
xref: GARD:9647 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98957", source="Orphanet:98957/attributed", source="Orphanet:98957/ntbt"}
xref: MEDGEN:90939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535480 {source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"}
xref: NANDO:1201006 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C142805 {source="MONDO:equivalentTo"}
xref: OMIM:204870 {source="GARD:0009647", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"}
xref: Orphanet:98957 {source="GARD:0009647", source="OMIM:204870", source="MONDO:equivalentTo", source="DOID:0060449"}
xref: SCTID:418946006 {source="DOID:0060449"}
xref: UMLS:C0339273 {source="MEDGEN:90939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000763 {source="DOID:0060449"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0004686 ! lattice corneal dystrophy
is_a: MONDO:0020212 {source="Orphanet:98957"} ! superficial corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11530 {source="MONDO:mim2gene_medgen"} ! TACSTD2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal" xsd:anyURI {source="GARD:0009647"}

[Term]
id: MONDO:0008778
name: amyloidosis, cutaneous bullous
synonym: "amyloidosis, cutaneous bullous" EXACT [OMIM:204900]
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562644 {source="MONDO:equivalentTo"}
xref: OMIM:204900 {source="MONDO:equivalentTo"}
xref: SCTID:38606009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78672"}
is_a: MONDO:0003847 {source="MESH:C562644/inferred"} ! hereditary disease

[Term]
id: MONDO:0008779
name: arthrogryposis
def: "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." [NCIT:C84572]
subset: otar {source="MONDO:OTAR"}
synonym: "Arthrogryposes, congenital multiple" EXACT [MESH:D001176]
synonym: "congenital multiple Arthrogryposes" EXACT [MESH:D001176]
synonym: "congenital multiple arthrogryposis" EXACT [MESH:D001176]
xref: EFO:0003857 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:2455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001176 {source="MONDO:equivalentTo", source="EFO:0003857"}
xref: NCIT:C84572 {source="MONDO:equivalentTo", source="EFO:0003857"}
xref: SCTID:111246005 {source="EFO:0003857"}
xref: UMLS:C0003886 {source="MEDGEN:2455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005395 {source="EFO:0003857"} ! movement disorder

[Term]
id: MONDO:0008780
name: amyotrophic lateral sclerosis type 2, juvenile
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALS, juvenile" RELATED [OMIM:205100]
synonym: "ALS2" EXACT ABBREVIATION [DOID:0060194, MONDO:Lexical, OMIM:205100]
synonym: "ALS2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "amyotrophic lateral sclerosis 2" EXACT [DOID:0060194, OMIM:205100]
synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [DOID:0060194, MONDO:Lexical, OMIM:205100]
synonym: "amyotrophic lateral sclerosis caused by mutation in ALS2" EXACT [MONDO:design_pattern]
xref: DOID:0060194 {source="MONDO:equivalentTo"}
xref: GARD:15137 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="DOID:0060194"}
xref: MEDGEN:349246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565957 {source="MONDO:equivalentTo"}
xref: OMIM:205100 {source="MONDO:equivalentTo", source="DOID:0060194"}
xref: Orphanet:300605 {source="OMIM:205100"}
xref: UMLS:C1859807 {source="MEDGEN:349246", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DOID:0060194", source="MESH:C565957", source="MONDO:Redundant", source="OMIM:205100"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017593 {source="Orphanet:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis
is_a: MONDO:0024237 {source="MONDO:Redundant", source="MONDO:indirect"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 ! ALS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 {source="MONDO:mim2gene_medgen"} ! ALS2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2" xsd:anyURI {source="GARD:0009470"}

[Term]
id: MONDO:0008781
name: juvenile amyotrophic lateral sclerosis with dementia
def: "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia." [DOID:0110067, PMID:5692341]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS-dementia Complex" RELATED [OMIM:205200]
synonym: "ALS-dementia complex" EXACT [DOID:0110067]
synonym: "amyotrophic lateral sclerosis, juvenile, with dementia" RELATED [OMIM:205200]
xref: DOID:0110067 {source="MONDO:equivalentTo"}
xref: MEDGEN:395347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565956 {source="MONDO:equivalentTo"}
xref: OMIM:205200 {source="MONDO:equivalentTo", source="DOID:0110067"}
xref: UMLS:C1859806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395347"}
is_a: MONDO:0005144 {source="DC-OMIM:205200", source="DOID:0110067", source="MESH:C565956", source="OMIM:205200"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017593 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile amyotrophic lateral sclerosis

[Term]
id: MONDO:0008782
name: amyotrophic lateral sclerosis with polyglucosan bodies
comment: Not in the OMIM series. {source="OMIM:205250"}
subset: gard_rare {source="GARD:15138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amyotrophic lateral sclerosis with polyglucosan bodies" EXACT [OMIM:205250]
xref: GARD:15138 {source="MONDO:GARD"}
xref: MEDGEN:347953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565955 {source="MONDO:equivalentTo"}
xref: OMIM:205250 {source="MONDO:equivalentTo"}
xref: Orphanet:803 {source="OMIM:205250"}
xref: UMLS:C1859805 {source="MONDO:equivalentTo", source="MEDGEN:347953", source="MONDO:MEDGEN"}
is_a: MONDO:0004976 {source="MESH:C565955"} ! amyotrophic lateral sclerosis

[Term]
id: MONDO:0008783
name: Tangier disease
def: "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." [Orphanet:31150]
subset: gard_rare {source="GARD:7731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1757"}
subset: ordo_disorder {source="Orphanet:31150"}
subset: orphanet_rare {source="Orphanet:31150"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "A-alphalipoprotein neuropathy" RELATED [GARD:0007731]
synonym: "Alpha high density lipoprotein deficiency disease" RELATED [GARD:0007731]
synonym: "Analphalipo-proteinemia" RELATED [GARD:0007731]
synonym: "Analphalipoproteinemia" EXACT [OMIM:205400, Orphanet:31150]
synonym: "ATP-binding cassette transporter A1 deficiency" EXACT [Orphanet:31150]
synonym: "cholesterol thesaurismosis" RELATED [GARD:0007731]
synonym: "defective adenosine triphosphate-binding cassette transporter A1" EXACT [Orphanet:31150]
synonym: "familial alpha-lipoprotein deficiency" EXACT [DOID:1388]
synonym: "familial high density lipoprotein deficiency" EXACT [DOID:1388]
synonym: "familial high density lipoprotein deficiency disease" RELATED [GARD:0007731]
synonym: "familial Hypoalphalipo-proteinemia" RELATED [GARD:0007731]
synonym: "familial hypoalphalipoproteinemia" RELATED EXCLUDE [DOID:1388]
synonym: "HDL lipoprotein deficiency disease" RELATED [GARD:0007731]
synonym: "HDLDT1" RELATED ABBREVIATION [GARD:0007731]
synonym: "high density lipoprotein deficiency, Tangier type" RELATED [OMIM:205400]
synonym: "high density lipoprotein deficiency, type 1" RELATED [OMIM:205400]
synonym: "Tangier disease" EXACT [MONDO:Lexical, OMIM:205400]
synonym: "tgd" RELATED [MONDO:Lexical, OMIM:205400]
xref: DOID:1388 {source="MONDO:equivalentTo"}
xref: GARD:7731 {source="MONDO:GARD"}
xref: ICD10CM:E78.6 {source="DOID:1388", source="Orphanet:31150/attributed", source="Orphanet:31150/ntbt", source="Orphanet:31150"}
xref: MedDRA:10051875 {source="Orphanet:31150/e", source="Orphanet:31150"}
xref: MEDGEN:52644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013631 {source="Orphanet:31150/e", source="DOID:1388", source="MONDO:equivalentTo", source="Orphanet:31150"}
xref: NANDO:1200854 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85182 {source="DOID:1388", source="MONDO:equivalentTo"}
xref: NORD:1757 {source="MONDO:NORD"}
xref: OMIM:205400 {source="Orphanet:31150/e", source="DOID:1388", source="MONDO:equivalentTo", source="Orphanet:31150"}
xref: Orphanet:31150 {source="OMIM:205400", source="MONDO:equivalentTo"}
xref: SCTID:15346004 {source="DOID:1388"}
xref: SCTID:190783007 {source="DOID:1388"}
xref: SCTID:723579009 {source="MONDO:equivalentTo"}
xref: UMLS:C0039292 {source="MEDGEN:52644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001822 {source="DOID:1388", source="MESH:D013631/inferred"} ! hypolipoproteinemia
is_a: MONDO:0017773 {source="MESH:D013631", source="Orphanet:31150"} ! hypoalphalipoproteinemia
relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="MONDO:0016134-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29 {source="MONDO:mim2gene_medgen"} ! ABCA1

[Term]
id: MONDO:0008784
name: obsolete autoimmune hemolytic anemia
is_obsolete: true
replaced_by: MONDO:0020108

[Term]
id: MONDO:0008785
name: sideroblastic anemia 2
subset: gard_rare {source="GARD:18381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anemia, sideroblastic, 2, pyridoxine-refractory" RELATED [OMIM:205950]
synonym: "anemia, sideroblastic, pyridoxine-refractory, autosomal recessive" RELATED [OMIM:205950]
synonym: "pyridoxine refractory sideroblastic anaemia" RELATED OMO:0003005 []
synonym: "pyridoxine refractory sideroblastic anemia" RELATED [GARD:0008249]
synonym: "SIDBA2" RELATED ABBREVIATION [OMIM:205950]
synonym: "sideroblastic anaemia pyridoxine-refractory autosomal recessive" RELATED OMO:0003005 []
synonym: "sideroblastic anemia pyridoxine-refractory autosomal recessive" RELATED [GARD:0008249]
xref: DOID:0060065 {source="MONDO:equivalentTo"}
xref: GARD:18381 {source="MONDO:GARD"}
xref: MEDGEN:899109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567145 {source="MONDO:equivalentTo"}
xref: OMIM:205950 {source="DOID:0060065", source="MONDO:equivalentTo"}
xref: Orphanet:255132 {source="OMIM:205950"}
xref: Orphanet:260305 {source="OMIM:205950"}
xref: UMLS:C4225425 {source="MEDGEN:899109", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015194 {source="DOID:0060065", source="MESH:C567145", source="MONDO:Redundant", source="OMIM:205950"} ! sideroblastic anemia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:205950"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26054 {source="MONDO:mim2gene_medgen"} ! SLC25A38

[Term]
id: MONDO:0008786
name: pyridoxine-responsive sideroblastic anemia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anaemia congenital sideroblastic B6-responsive" RELATED OMO:0003005 []
synonym: "anemia congenital sideroblastic B6-responsive" RELATED [GARD:0009872]
synonym: "anemia, congenital sideroblastic, B6-responsive" RELATED [OMIM:206000]
synonym: "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive" RELATED [OMIM:206000]
synonym: "B6-responsive sideroblastic anaemia" RELATED OMO:0003005 []
synonym: "B6-responsive sideroblastic anemia" RELATED [GARD:0009872]
synonym: "sideroblastic anaemia pyridoxine-responsive autosomal recessive" RELATED OMO:0003005 []
synonym: "sideroblastic anemia pyridoxine-responsive autosomal recessive" RELATED [GARD:0009872]
xref: DOID:0060066 {source="MONDO:equivalentTo"}
xref: MEDGEN:395346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565954 {source="MONDO:equivalentTo"}
xref: OMIM:206000 {source="DOID:0060066", source="MONDO:equivalentTo"}
xref: SCTID:191260004 {source="MONDO:equivalentTo"}
xref: UMLS:C1859787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395346"}
is_a: MONDO:0015194 {source="DC-OMIM:206000", source="DOID:0060066", source="MESH:C565954"} ! sideroblastic anemia
relationship: disease_responds_to CHEBI:16709 ! pyridoxine

[Term]
id: MONDO:0008787
name: microcytic anemia with liver iron overload
def: "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." [Orphanet:83642]
subset: gard_rare {source="GARD:12360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83642"}
subset: orphanet_rare {source="Orphanet:83642"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AHMIO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206100]
synonym: "anemia, hypochromic microcytic, with iron overload 1" RELATED [MONDO:Lexical, OMIM:206100]
synonym: "anemia, hypochromic microcytic, with iron overload type 1" EXACT [MONDORULE:1, OMIM:206100]
synonym: "hypochromic microcytic anaemia with iron overload" RELATED OMO:0003005 []
synonym: "hypochromic microcytic anemia with iron overload" RELATED [GARD:0012360]
synonym: "microcytic anaemia and hepatic iron overload" RELATED OMO:0003005 []
synonym: "microcytic anemia and hepatic iron overload" RELATED [GARD:0012360]
xref: GARD:12360 {source="MONDO:GARD"}
xref: ICD10CM:D50.8 {source="Orphanet:83642/attributed", source="Orphanet:83642/ntbt", source="Orphanet:83642"}
xref: MEDGEN:812483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:206100 {source="Orphanet:83642", source="MONDO:equivalentTo", source="Orphanet:83642/e"}
xref: Orphanet:83642 {source="OMIM:206100", source="MONDO:equivalentTo"}
xref: SCTID:711161006 {source="MONDO:equivalentTo"}
xref: UMLS:C3806153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:812483"}
is_a: MONDO:0000104 {source="DC-OMIM:206100", source="OMIM:206100"} ! anemia, hypochromic microcytic with iron overload
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0017763 {source="Orphanet:83642"} ! disorder of iron metabolism and transport
relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10908 {source="MONDO:mim2gene_medgen"} ! SLC11A2

[Term]
id: MONDO:0008788
name: IRIDA syndrome
def: "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." [Orphanet:209981]
subset: gard_rare {source="GARD:10957", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209981"}
subset: orphanet_rare {source="Orphanet:209981"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, hypochromic microcytic, with defect in iron metabolism" RELATED [GARD:0010957, OMIM:206200]
synonym: "IRIDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206200]
synonym: "IRIDA syndrome" EXACT CLINGEN_LABEL []
synonym: "iron-handling disorder, hereditary" RELATED [OMIM:206200]
synonym: "iron-refractory iron deficiency anaemia" EXACT OMO:0003005 []
synonym: "iron-refractory iron deficiency anemia" EXACT [MONDO:Lexical, OMIM:206200, Orphanet:209981]
synonym: "pseudo-iron-deficiency Anaemia" RELATED OMO:0003005 []
synonym: "pseudo-iron-deficiency Anemia" RELATED [OMIM:206200]
xref: GARD:10957 {source="MONDO:GARD"}
xref: ICD10CM:D50.8 {source="Orphanet:209981", source="Orphanet:209981/attributed", source="Orphanet:209981/ntbt"}
xref: MEDGEN:39081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562385 {source="MONDO:equivalentTo"}
xref: OMIM:206200 {source="MONDO:equivalentTo", source="Orphanet:209981", source="Orphanet:209981/e"}
xref: Orphanet:209981 {source="OMIM:206200", source="MONDO:equivalentTo"}
xref: SCTID:722005000 {source="MONDO:equivalentTo"}
xref: UMLS:C0085576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39081"}
is_a: MONDO:0001245 ! microcytic anemia
is_a: MONDO:0016624 ! inherited deficiency anemia
relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16517 {source="MONDO:mim2gene_medgen"} ! TMPRSS6

[Term]
id: MONDO:0008789
name: anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" EXACT [OMIM:206300]
xref: MEDGEN:349245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565953 {source="MONDO:equivalentTo"}
xref: OMIM:206300 {source="MONDO:equivalentTo"}
xref: UMLS:C1859786 {source="MEDGEN:349245", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000105 {source="DC-OMIM:206300"} ! anemia, nonspherocytic hemolytic

[Term]
id: MONDO:0008790
name: anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism" EXACT [OMIM:206400]
xref: MEDGEN:395345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565952 {source="MONDO:equivalentTo"}
xref: OMIM:206400 {source="MONDO:equivalentTo"}
xref: UMLS:C1859785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395345"}
is_a: MONDO:0000105 {source="DC-OMIM:206400"} ! anemia, nonspherocytic hemolytic

[Term]
id: MONDO:0008791
name: anencephaly 1
def: "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." [Orphanet:1048]
subset: gard_rare {source="GARD:5808", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1048"}
subset: ordo_morphological_anomaly {source="Orphanet:1048"}
subset: orphanet_rare {source="Orphanet:1048"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absence of a large part of the brain and the skull" RELATED [GARD:0005808]
synonym: "anencephaly" BROAD [OMIM:206500]
synonym: "anencephaly 1" EXACT [OMIM:206500, OMIM:genemap2]
synonym: "ANPH" BROAD ABBREVIATION [OMIM:206500]
synonym: "isolated anencephaly/exencephaly" EXACT [Orphanet:1048]
xref: GARD:5808 {source="MONDO:GARD"}
xref: ICD10CM:Q00.0 {source="Orphanet:1048", source="Orphanet:1048/e", source="Orphanet:1048/specific"}
xref: ICD9:740.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1794138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:206500 {source="Orphanet:1048", source="MONDO:equivalentTo", source="Orphanet:1048/e"}
xref: Orphanet:1048 {source="OMIM:206500", source="MONDO:equivalentTo"}
xref: SCTID:89369001 {source="MONDO:equivalentTo"}
xref: UMLS:C5561928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794138"}
is_a: MONDO:0000819 {source="OMIM:206500"} ! anencephaly
is_a: MONDO:0015159 {source="Orphanet:1048"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1048", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16280 {source="MONDO:mim2gene_medgen", source="OMIM:206500"} ! TRIM36
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3684" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4616" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008792
name: familial angiolipomatosis
def: "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." [Orphanet:199279]
subset: gard_rare {source="GARD:17089", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199279"}
subset: orphanet_rare {source="Orphanet:199279"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiolipoma Microthromboticum" RELATED [OMIM:206550]
synonym: "angiolipomatosis, familial" RELATED [OMIM:206550]
xref: GARD:17089 {source="MONDO:GARD"}
xref: ICD10CM:D17.9 {source="Orphanet:199279/attributed", source="Orphanet:199279/ntbt", source="Orphanet:199279"}
xref: MEDGEN:347235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565951 {source="MONDO:equivalentTo"}
xref: OMIM:206550 {source="Orphanet:199279", source="MONDO:equivalentTo", source="Orphanet:199279/e"}
xref: Orphanet:199279 {source="MONDO:equivalentTo", source="OMIM:206550"}
xref: UMLS:C1859784 {source="MEDGEN:347235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019296 {source="Orphanet:199279"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare

[Term]
id: MONDO:0008793
name: angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert
synonym: "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" EXACT [OMIM:206570]
synonym: "Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin" RELATED [GARD:0008587]
synonym: "Divry-Van Bogaert syndrome" RELATED [OMIM:206570]
xref: MEDGEN:347234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536367 {source="MONDO:equivalentTo"}
xref: OMIM:206570 {source="MONDO:equivalentTo"}
xref: UMLS:C1859783 {source="MEDGEN:347234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8587/angiomatosis-diffuse-corticomeningeal-of-divry-and-van-bogaert" xsd:anyURI {source="GARD:0008587"}

[Term]
id: MONDO:0008794
name: anhidrosis, familial generalized, with abnormal or absent sweat glands
synonym: "anhidrosis, familial generalized, with abnormal or absent sweat glands" EXACT [OMIM:206600]
xref: MEDGEN:895862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:206600 {source="MONDO:equivalentTo"}
xref: UMLS:C4225670 {source="MEDGEN:895862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0006527 {source="https://orcid.org/0000-0001-5208-3432"} ! anhidrosis

[Term]
id: MONDO:0008795
name: aniridia-cerebellar ataxia-intellectual disability syndrome
def: "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." [Orphanet:1065]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:786"}
subset: ordo_disorder {source="Orphanet:1065"}
subset: ordo_malformation_syndrome {source="Orphanet:1065"}
subset: orphanet_rare {source="Orphanet:1065"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aniridia Cerebellar Ataxia Mental Deficiency" EXACT [NORD:786]
synonym: "aniridia, cerebellar ataxia and mental deficiency" EXACT [GARD:0000013]
synonym: "aniridia, cerebellar ataxia, and intellectual disability" EXACT [OMIM:206700]
synonym: "aniridia, cerebellar ataxia, and mental retardation" EXACT DEPRECATED [OMIM:206700]
synonym: "GILLESPIE syndrome" EXACT [OMIM:206700]
synonym: "Gillespie syndrome" EXACT [OMIM:206700, Orphanet:1065]
synonym: "GLSP" EXACT ABBREVIATION [OMIM:206700]
xref: DOID:0111578 {source="MONDO:equivalentTo"}
xref: GARD:13 {source="MONDO:GARD"}
xref: ICD10CM:G11.0 {source="Orphanet:1065", source="Orphanet:1065/attributed", source="Orphanet:1065/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536370 {source="MONDO:equivalentTo"}
xref: NORD:786 {source="MONDO:NORD"}
xref: OMIM:206700 {source="Orphanet:1065", source="GARD:0000013", source="MONDO:equivalentTo", source="Orphanet:1065/e"}
xref: Orphanet:1065 {source="GARD:0000013", source="MONDO:equivalentTo", source="OMIM:206700"}
xref: SCTID:253176002 {source="MONDO:equivalentTo"}
xref: UMLS:C0431401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96563"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0011119 {source="https://orcid.org/0000-0002-5002-8648"} ! iridogoniodysgenesis
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1065", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008796
name: aniridia-renal agenesis-psychomotor retardation syndrome
def: "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." [Orphanet:1064]
subset: gard_rare {source="GARD:690", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1064"}
subset: ordo_malformation_syndrome {source="Orphanet:1064"}
subset: orphanet_rare {source="Orphanet:1064"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aniridia partial with unilateral renal agenesis and psychomotor retardation" RELATED [GARD:0000690]
synonym: "aniridia renal agenesis psychomotor retardation" RELATED [GARD:0000690]
synonym: "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" RELATED [OMIM:206750]
synonym: "Sommer Rathbun Battles syndrome" RELATED [GARD:0000690]
synonym: "Sommer-Rathbun-Battles syndrome" EXACT [Orphanet:1064]
xref: GARD:690 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1064/attributed", source="Orphanet:1064/ntbt", source="Orphanet:1064"}
xref: MEDGEN:347952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000598722 {source="MONDO:equivalentTo"}
xref: MESH:C536371 {source="Orphanet:1064/e", source="Orphanet:1064"}
xref: OMIM:206750 {source="Orphanet:1064/e", source="MONDO:equivalentTo", source="Orphanet:1064"}
xref: Orphanet:1064 {source="OMIM:206750", source="MONDO:equivalentTo"}
xref: SCTID:733116005 {source="MONDO:equivalentTo"}
xref: UMLS:C1859782 {source="MEDGEN:347952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:1064"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1064", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008797
name: anodontia
def: "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." [Orphanet:99797]
subset: gard_rare {source="GARD:5818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99797"}
subset: ordo_morphological_anomaly {source="Orphanet:99797"}
subset: orphanet_rare {source="Orphanet:99797"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absence of permanent teeth" RELATED [GARD:0005818]
synonym: "anodontia of permanent dentition" RELATED [OMIM:206780]
synonym: "complete absence of teeth" EXACT [DOID:13714]
synonym: "developmental absence of tooth" EXACT [DOID:13714]
synonym: "teeth, permanent, absence of" RELATED [OMIM:206780]
synonym: "total anodontia of permanent and deciduous teeth" EXACT [DOID:13714]
xref: DOID:13714 {source="MONDO:equivalentTo"}
xref: GARD:5818 {source="MONDO:GARD"}
xref: ICD10CM:K00.0 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e", source="Orphanet:99797/specific"}
xref: icd11.foundation:413433873 {source="Orphanet:99797", source="MONDO:equivalentTo"}
xref: ICD9:520.0 {source="DOID:13714"}
xref: MedDRA:10002583 {source="Orphanet:99797", source="Orphanet:99797/e"}
xref: MEDGEN:98313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000848 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e"}
xref: OMIM:206780 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e"}
xref: Orphanet:99797 {source="MONDO:equivalentTo", source="OMIM:206780"}
xref: SCTID:16958000 {source="DOID:13714", source="MONDO:equivalentTo"}
xref: SCTID:196265005 {source="DOID:13714"}
xref: SCTID:196266006 {source="DOID:13714"}
xref: SCTID:196269004 {source="DOID:13714"}
xref: SCTID:234951001 {source="DOID:13714"}
xref: SCTID:26624006 {source="DOID:13714"}
xref: UMLS:C0399352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98313"}
is_a: MONDO:0003847 {source="Orphanet:99797/inferred"} ! hereditary disease
is_a: MONDO:0006999 {source="DOID:13714", source="MESH:D000848/inferred"} ! tooth disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5818/anodontia" xsd:anyURI {source="GARD:0005818"}

[Term]
id: MONDO:0008798
name: nonsyndromic congenital nail disorder 4
def: "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16837", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:94150"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anonychia congenita" RELATED [DOID:0050643]
synonym: "anonychia congenita totalis" RELATED [Orphanet:94150]
synonym: "anonychia totalis" RELATED [OMIM:206800]
synonym: "anonychia/hyponychia congenita" RELATED [OMIM:206800]
synonym: "HYPONYCHIA congenita" EXACT [DOID:0050643]
synonym: "isolated congenital anonychia caused by mutation in RSPO4" EXACT [MONDO:design_pattern]
synonym: "nail disorder, nonsyndromic congenital, 4" RELATED [MONDO:Lexical, OMIM:206800]
synonym: "nail disorder, nonsyndromic congenital, type 4" EXACT [MONDORULE:1, OMIM:206800]
synonym: "NDNC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206800]
synonym: "nonsyndromic congenital nail disorder 4" EXACT CLINGEN_LABEL []
synonym: "nonsyndromic congenital nail disorder type 4" EXACT [DOID:0080082, MONDORULE:1]
synonym: "RSPO4 isolated congenital anonychia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0050643 {source="MONDO:equivalentObsolete"}
xref: DOID:0080082 {source="MONDO:equivalentTo"}
xref: GARD:16837 {source="MONDO:GARD"}
xref: ICD10CM:Q84.3 {source="Orphanet:94150/attributed", source="Orphanet:94150/ntbt", source="Orphanet:94150"}
xref: MEDGEN:120563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536377 {source="MONDO:equivalentTo"}
xref: OMIM:206800 {source="Orphanet:94150/e", source="DOID:0050643", source="MONDO:equivalentTo", source="DOID:0080082", source="Orphanet:94150"}
xref: Orphanet:79143 {source="OMIM:206800"}
xref: Orphanet:94150 {source="MONDO:equivalentTo", source="OMIM:206800"}
xref: UMLS:C0265998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120563"}
is_a: MONDO:0019211 {source="MONDO:Redundant", source="Orphanet:94150"} ! isolated congenital anonychia
is_a: MONDO:0019284 {source="DC-OMIM:206800", source="OMIM:206800", source="Orphanet:94150/inferred"} ! inherited isolated nail anomaly
intersection_of: MONDO:0019211 ! isolated congenital anonychia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16175 ! RSPO4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16175 {source="MONDO:mim2gene_medgen"} ! RSPO4

[Term]
id: MONDO:0008799
name: anophthalmia/microphthalmia-esophageal atresia syndrome
def: "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." [Orphanet:77298]
subset: gard_rare {source="GARD:1443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:77298"}
subset: ordo_malformation_syndrome {source="Orphanet:77298"}
subset: orphanet_rare {source="Orphanet:77298"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aeg syndrome" RELATED [OMIM:206900]
synonym: "anophthalmia clinical with associated anomalies" RELATED [GARD:0001443]
synonym: "anophthalmia esophageal genital syndrome" RELATED [GARD:0001443]
synonym: "anophthalmia microphthalmia esophageal atresia" RELATED [GARD:0001443]
synonym: "anophthalmia, clinical, with associated anomalies" RELATED [OMIM:206900]
synonym: "anophthalmia-esophageal-genital syndrome" RELATED [OMIM:206900]
synonym: "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT CLINGEN_LABEL []
synonym: "MCOPS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:206900, Orphanet:77298]
synonym: "microphthalmia and esophageal atresia syndrome" RELATED [OMIM:206900]
synonym: "microphthalmia, syndromic 3" RELATED [MONDO:Lexical, OMIM:206900]
synonym: "microphthalmia, syndromic type 3" EXACT [MONDORULE:1, OMIM:206900]
synonym: "optic nerve hypoplasia and abnormalities of the central nervous system" RELATED [OMIM:206900]
synonym: "SOX2 anophthalmia syndrome" RELATED [GARD:0001443]
synonym: "SOX2-related eye disorders" RELATED [GARD:0001443]
synonym: "syndromic microphthalmia type 3" EXACT [Orphanet:77298]
synonym: "syndromic microphthalmia, type 3" RELATED [GARD:0001443]
xref: DOID:0111801 {source="MONDO:equivalentTo"}
xref: GARD:1443 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:77298/attributed", source="Orphanet:77298/ntbt", source="Orphanet:77298"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:347232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:206900 {source="Orphanet:77298/e", source="MONDO:equivalentTo", source="Orphanet:77298"}
xref: Orphanet:77298 {source="MONDO:equivalentTo", source="OMIM:206900"}
xref: SCTID:698851003 {source="MONDO:equivalentTo"}
xref: UMLS:C1859773 {source="MEDGEN:347232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:77298"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016073 {source="DC-OMIM:206900", source="OMIM:206900", source="Orphanet:77298"} ! syndromic microphthalmia

[Term]
id: MONDO:0008800
name: microphthalmia with limb anomalies
def: "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." [Orphanet:1106]
subset: gard_rare {source="GARD:722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1106"}
subset: ordo_malformation_syndrome {source="Orphanet:1106"}
subset: orphanet_rare {source="Orphanet:1106"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anophthalmia Waardenburg syndrome" RELATED [GARD:0000722]
synonym: "anophthalmia-syndactyly" RELATED [OMIM:206920]
synonym: "anophthalmia-syndactyly syndrome" EXACT [DOID:0060861, Orphanet:1106]
synonym: "anophthalmos with limb anomalies" RELATED [GARD:0000722]
synonym: "anophthalmos-syndactyly" RELATED [GARD:0000722]
synonym: "microphthalmia with limb anomalies" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:206920]
synonym: "MLA" EXACT ABBREVIATION [DOID:0060861, MONDO:Lexical, OMIM:206920]
synonym: "OAS" EXACT ABBREVIATION [DOID:0060861, Orphanet:1106]
synonym: "Ophthalmoacromelic syndrome" EXACT [OMIM:206920, Orphanet:1106]
synonym: "ophthalmoacromelic syndrome" EXACT [DOID:0060861]
synonym: "Waardenburg anophthalmia syndrome" EXACT [DOID:0060861, OMIM:206920, Orphanet:1106]
xref: DOID:0060861 {source="MONDO:equivalentTo"}
xref: GARD:722 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="DOID:0060861", source="Orphanet:1106", source="Orphanet:1106/attributed", source="Orphanet:1106/ntbt"}
xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:154638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537769 {source="MONDO:equivalentTo"}
xref: OMIM:206920 {source="DOID:0060861", source="MONDO:equivalentTo", source="Orphanet:1106", source="Orphanet:1106/e"}
xref: Orphanet:1106 {source="DOID:0060861", source="MONDO:equivalentTo", source="OMIM:206920"}
xref: SCTID:703403003 {source="MONDO:equivalentTo"}
xref: UMLS:C0599973 {source="MEDGEN:154638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:0060861", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015160 {source="Orphanet:1106"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:206920", source="Orphanet:1106"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20318 {source="MONDO:mim2gene_medgen"} ! SMOC1

[Term]
id: MONDO:0008801
name: anosmia for isobutyric acid
synonym: "anosmia for isobutyric acid" EXACT [OMIM:207000]
xref: MEDGEN:347228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:207000 {source="MONDO:equivalentTo"}
xref: UMLS:C1859762 {source="MEDGEN:347228", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008802
name: antithrombin, familial hemorrhagic diathesis due to
synonym: "antithrombin, familial hemorrhagic diathesis due to" EXACT [OMIM:207300]
xref: MEDGEN:347227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565947 {source="MONDO:equivalentTo"}
xref: OMIM:207300 {source="MONDO:equivalentTo"}
xref: UMLS:C1859761 {source="MONDO:equivalentTo", source="MEDGEN:347227", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008803
name: Antley-Bixler syndrome
def: "Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." [Orphanet:83]
subset: gard_rare {source="GARD:5826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:792"}
subset: ordo_disorder {source="Orphanet:83"}
subset: ordo_malformation_syndrome {source="Orphanet:83"}
subset: orphanet_rare {source="Orphanet:83"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Antley Bixler syndrome" RELATED [GARD:0005826]
synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410]
synonym: "osteodysgenesis, multisynostotic with fractures" RELATED [GARD:0005826]
synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [OMIM:207410]
synonym: "trapezoidocephaly synostosis syndrome" RELATED [GARD:0005826]
synonym: "trapezoidocephaly-synostosis syndrome" EXACT [DOID:0050462, OMIM:207410]
xref: DOID:0050462 {source="MONDO:equivalentTo"}
xref: DOID:0081289 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:5826 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:83/attributed", source="Orphanet:83/ntbt", source="Orphanet:83"}
xref: MEDGEN:1714404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537780 {source="Orphanet:83/e", source="Orphanet:83"}
xref: MESH:D054882 {source="DOID:0050462"}
xref: NANDO:1200669 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200975 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:792 {source="MONDO:NORD"}
xref: Orphanet:83 {source="OMIM:207410", source="MONDO:equivalentTo"}
xref: SCTID:62964007 {source="DOID:0050462", source="MONDO:equivalentTo"}
xref: UMLS:C5234850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714404"}
is_a: MONDO:0006025 {source="DOID:0050462"} ! autosomal recessive disease
is_a: MONDO:0015160 {source="Orphanet:83"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015338 {source="Orphanet:83"} ! syndromic craniosynostosis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:207410", source="Orphanet:83"} ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome" xsd:anyURI {source="GARD:0005826"}

[Term]
id: MONDO:0008804
name: obsolete anus, imperforate
is_obsolete: true
replaced_by: MONDO:0010530

[Term]
id: MONDO:0008805
name: obsolete Takayasu's arteritis
is_obsolete: true
replaced_by: MONDO:0017991

[Term]
id: MONDO:0008806
name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
def: "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." [Orphanet:1112]
subset: gard_rare {source="GARD:3051", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1112"}
subset: ordo_malformation_syndrome {source="Orphanet:1112"}
subset: orphanet_rare {source="Orphanet:1112"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations" RELATED [GARD:0003051]
synonym: "APHALANGY with hemivertebrae" RELATED [OMIM:207620]
synonym: "Johnson Munson syndrome" RELATED [GARD:0003051]
synonym: "Johnson-Munson syndrome" EXACT [Orphanet:1112]
xref: GARD:3051 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1112", source="Orphanet:1112/attributed", source="Orphanet:1112/ntbt"}
xref: MEDGEN:347225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535881 {source="Orphanet:1112", source="MONDO:equivalentTo", source="Orphanet:1112/e"}
xref: OMIM:207620 {source="Orphanet:1112", source="MONDO:equivalentTo", source="Orphanet:1112/e"}
xref: Orphanet:1112 {source="OMIM:207620", source="MONDO:equivalentTo"}
xref: SCTID:733118006 {source="MONDO:equivalentTo"}
xref: UMLS:C1859754 {source="MEDGEN:347225", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008807
name: obsolete apnea, central sleep
synonym: "apnea, central sleep" EXACT [OMIM:107640, OMIM:207720]
synonym: "sleep apnea, lethal central" RELATED [OMIM:207720]
xref: OMIM:107640 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:207720 {source="MONDO:obsoleteEquivalent", source="MONDO:preferredExternal"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/46" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6463" xsd:anyURI
is_obsolete: true
consider: MONDO:0004731

[Term]
id: MONDO:0008808
name: aplasia cutis congenita-intestinal lymphangiectasia syndrome
def: "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." [Orphanet:1116]
subset: gard_rare {source="GARD:753", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1116"}
subset: orphanet_rare {source="Orphanet:1116"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACC with intestinal lymphangiectasia" RELATED [OMIM:207731]
synonym: "aplasia cutis congenita intestinal lymphangiectasia" RELATED [GARD:0000753]
synonym: "aplasia cutis congenita with intestinal lymphangiectasia" RELATED [OMIM:207731]
synonym: "autosomal recessive aplasia cutis" EXACT [Orphanet:1116]
synonym: "Bronspiegel-Zelnick syndrome" EXACT [Orphanet:1116]
xref: GARD:753 {source="MONDO:GARD"}
xref: MEDGEN:349241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537788 {source="MONDO:equivalentTo", source="Orphanet:1116", source="Orphanet:1116/e"}
xref: OMIM:207731 {source="MONDO:equivalentTo", source="Orphanet:1116", source="Orphanet:1116/e"}
xref: Orphanet:1116 {source="OMIM:207731", source="MONDO:equivalentTo"}
xref: SCTID:720500008 {source="MONDO:equivalentTo"}
xref: UMLS:C1859753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349241"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005020 {source="Orphanet:1116"} ! intestinal disorder
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
is_a: MONDO:0019294 {source="Orphanet:1116"} ! mixed dermis disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008809
name: polyneuropathy-hand defect syndrome
def: "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." [Orphanet:2926]
subset: gard_rare {source="GARD:2589", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2926"}
subset: ordo_malformation_syndrome {source="Orphanet:2926"}
subset: orphanet_rare {source="Orphanet:2926"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy" RELATED OMO:0003005 []
synonym: "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" RELATED [OMIM:207740]
synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy" RELATED OMO:0003005 []
synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy" RELATED [GARD:0002589, MESH:C535624]
synonym: "digital extensor muscle aplasia-polyneuropathy" RELATED [Orphanet:2926]
synonym: "Hamanishi Ueba Tsuji syndrome" EXACT [GARD:0002589]
synonym: "Hamanishi-Ueba-Tsuji syndrome" EXACT [MONDO:0023303, Orphanet:2926]
synonym: "polyneuropathy, hand defect" RELATED [GARD:0002589]
xref: GARD:2589 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2926/attributed", source="Orphanet:2926/ntbt", source="Orphanet:2926"}
xref: MEDGEN:349240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535624 {source="MONDO:equivalentTo"}
xref: OMIM:207740 {source="Orphanet:2926/e", source="GARD:0002589", source="MONDO:equivalentTo", source="Orphanet:2926"}
xref: Orphanet:2926 {source="OMIM:207740", source="GARD:0002589", source="MONDO:equivalentTo"}
xref: UMLS:C1859752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349240"}
is_a: MONDO:0015358 {source="Orphanet:2926"} ! hereditary motor and sensory neuropathy
is_a: MONDO:0015364 {source="MESH:C535624"} ! hereditary sensory and autonomic neuropathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome" xsd:anyURI {source="GARD:0002589"}

[Term]
id: MONDO:0008810
name: familial apolipoprotein C-II deficiency
subset: gard_rare {source="GARD:759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309020"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Apoc2 deficiency" RELATED [OMIM:207750]
synonym: "apolipoprotein C-II deficiency" RELATED [OMIM:207750]
synonym: "C-II Anapolipoproteinemia" RELATED [OMIM:207750]
synonym: "familial apoC-II deficiency" EXACT [Orphanet:309020]
synonym: "familial apolipoprotein C-II deficiency" EXACT CLINGEN_LABEL []
synonym: "hyperlipoproteinemia, type 1B" RELATED [OMIM:207750]
synonym: "hyperlipoproteinemia, type IB" EXACT [GARD:0000759, https://orcid.org/0000-0001-5208-3432]
xref: DOID:0111418 {source="MONDO:equivalentTo"}
xref: GARD:759 {source="MONDO:GARD"}
xref: ICD10CM:E78.3 {source="Orphanet:309020/attributed", source="Orphanet:309020/ntbt", source="Orphanet:309020"}
xref: MEDGEN:328375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:207750 {source="Orphanet:309020", source="MONDO:equivalentTo", source="Orphanet:309020/e"}
xref: Orphanet:309020 {source="OMIM:207750", source="MONDO:equivalentTo"}
xref: Orphanet:411 {source="OMIM:207750"}
xref: SCTID:33513003 {source="MONDO:equivalentTo"}
xref: UMLS:C1720779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328375"}
is_a: MONDO:0001336 {source="DC-OMIM:207750", source="MONDO:indirect"} ! familial hyperlipidemia
is_a: MONDO:0018637 {source="Orphanet:309020"} ! familial chylomicronemia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/609 {source="MONDO:mim2gene_medgen"} ! APOC2

[Term]
id: MONDO:0008811
name: XK aprosencephaly
def: "XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance." [Orphanet:3469]
subset: gard_rare {source="GARD:424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3469"}
subset: ordo_malformation_syndrome {source="Orphanet:3469"}
subset: orphanet_rare {source="Orphanet:3469"}
subset: rare
synonym: "aprosencephaly syndrome" RELATED [OMIM:207770]
synonym: "aprosencephaly-atelencephaly syndrome" RELATED [GARD:0000424]
synonym: "atelencephaly" RELATED [Orphanet:3469]
synonym: "Garcia-Lurie syndrome" EXACT [OMIM:207770, Orphanet:3469]
synonym: "XK aprosencephaly syndrome" RELATED [Orphanet:3469]
synonym: "Xk syndrome" RELATED [OMIM:207770]
synonym: "XK-aprosencephaly" EXACT [Orphanet:3469]
synonym: "XK-aprosencephaly syndrome" RELATED [GARD:0000424]
xref: GARD:424 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:3469", source="Orphanet:3469/ntbt"}
xref: MEDGEN:167087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536767 {source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e"}
xref: OMIM:207770 {source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e"}
xref: Orphanet:3469 {source="MONDO:equivalentTo", source="OMIM:207770"}
xref: SCTID:277921008 {source="MONDO:equivalentTo"}
xref: UMLS:C0795952 {source="MEDGEN:167087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly" xsd:anyURI {source="GARD:0000424"}

[Term]
id: MONDO:0008812
name: AREDYLD syndrome
def: "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." [Orphanet:1133]
subset: gard_rare {source="GARD:8509", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1133"}
subset: ordo_malformation_syndrome {source="Orphanet:1133"}
subset: orphanet_rare {source="Orphanet:1133"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acral renal ectodermal dysplasia lipoatrophic diabetes" RELATED [GARD:0008509]
synonym: "acrorenal defect-ectodermal dysplasia-diabetes syndrome" EXACT [Orphanet:1133]
synonym: "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes" RELATED [OMIM:207780]
synonym: "AREDYLD" RELATED ABBREVIATION [OMIM:207780]
xref: GARD:8509 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1133/attributed", source="Orphanet:1133/ntbt", source="Orphanet:1133"}
xref: ICD9:753.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537427 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"}
xref: OMIM:207780 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"}
xref: Orphanet:1133 {source="MONDO:equivalentTo", source="OMIM:207780"}
xref: SCTID:237610008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342280 {source="MEDGEN:87435", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C537427", source="Orphanet:1133"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:1133", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0008813
name: arachnoid cyst
def: "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" [MESH:D016080]
subset: gard_rare {source="GARD:17", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2356"}
subset: ordo_morphological_anomaly {source="Orphanet:2356"}
subset: orphanet_rare {source="Orphanet:2356"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arachnoid cysts" RELATED [GARD:0000017]
xref: GARD:17 {source="MONDO:GARD"}
xref: ICD10CM:G93.0 {source="Orphanet:2356/inclusion", source="Orphanet:2356/ntbt", source="Orphanet:2356"}
xref: MedDRA:10049005 {source="Orphanet:2356", source="Orphanet:2356/e"}
xref: MEDGEN:86860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016080 {source="Orphanet:2356", source="MONDO:equivalentTo", source="Orphanet:2356/e"}
xref: NCIT:C3455 {source="MONDO:equivalentTo"}
xref: Orphanet:2356 {source="GARD:0000017", source="MONDO:equivalentTo", source="OMIM:207790"}
xref: SCTID:33595009 {source="MONDO:equivalentTo"}
xref: UMLS:C0078981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:86860"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:2356", source="Orphanet:2356/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic developmental defect during embryogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts" xsd:anyURI

[Term]
id: MONDO:0008814
name: hyperargininemia
def: "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." [Orphanet:90]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5840", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90"}
subset: orphanet_rare {source="Orphanet:90"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arg1 deficiency" RELATED [OMIM:207800]
synonym: "arginase deficiency" EXACT [OMIM:207800, Orphanet:90]
synonym: "argininemia" EXACT [DOID:9278]
synonym: "deficiency of canavanase" EXACT [DOID:9278]
synonym: "hyperargininemia" EXACT CLINGEN_LABEL [OMIM:207800, Orphanet:90]
xref: DOID:9278 {source="MONDO:equivalentTo"}
xref: GARD:5840 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:90", source="Orphanet:90/attributed", source="Orphanet:90/ntbt"}
xref: ICD10CM:E72.21 {source="DOID:9278"}
xref: icd11.foundation:1619102598 {source="MONDO:equivalentTo", source="Orphanet:90", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10062695 {source="Orphanet:90", source="Orphanet:90/e"}
xref: MEDGEN:78688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020162 {source="MONDO:equivalentTo", source="Orphanet:90", source="DOID:9278", source="Orphanet:90/e"}
xref: NANDO:1200807 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200482 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84568 {source="MONDO:equivalentTo", source="DOID:9278"}
xref: OMIM:207800 {source="MONDO:equivalentTo", source="Orphanet:90", source="DOID:9278", source="Orphanet:90/e"}
xref: Orphanet:90 {source="MONDO:equivalentTo", source="OMIM:207800"}
xref: SCTID:124518006 {source="DOID:9278"}
xref: SCTID:23501004 {source="MONDO:equivalentTo", source="DOID:9278"}
xref: UMLS:C0268548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78688"}
is_a: MONDO:0004739 {source="Orphanet:90"} ! urea cycle disorder
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/663 {source="MONDO:mim2gene_medgen"} ! ARG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0008815
name: argininosuccinic aciduria
def: "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." [Orphanet:23]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5843", source="MONDO:GARD"}
subset: nord_rare {source="NORD:802", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:23"}
subset: orphanet_rare {source="Orphanet:23"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arginino succinase deficiency" RELATED [GARD:0005843]
synonym: "argininosuccinase deficiency" EXACT [OMIM:207900, Orphanet:23]
synonym: "argininosuccinate acidemia" RELATED [GARD:0005843]
synonym: "argininosuccinate lyase deficiency" RELATED [OMIM:207900]
synonym: "argininosuccinatelyase deficiency" EXACT [Orphanet:23]
synonym: "argininosuccinic acid lyase deficiency" EXACT [OMIM:207900, Orphanet:23]
synonym: "argininosuccinic acidemia" EXACT [DOID:14755]
synonym: "argininosuccinic aciduria" EXACT CLINGEN_LABEL [OMIM:207900]
synonym: "argininosuccinicaciduria" RELATED [GARD:0005843]
synonym: "arginosuccinase deficiency" EXACT [DOID:14755]
synonym: "ASA deficiency" EXACT [Orphanet:23]
synonym: "ASL deficiency" EXACT [OMIM:207900, Orphanet:23]
synonym: "deficiency of argininosuccinate lyase" EXACT [DOID:14755]
synonym: "inborn error of urea synthesis, arginino succinic type" RELATED [GARD:0005843]
synonym: "urea cycle disorder, arginino succinase type" RELATED [GARD:0005843]
xref: DOID:14755 {source="MONDO:equivalentTo"}
xref: GARD:5843 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:23/inclusion", source="Orphanet:23", source="Orphanet:23/ntbt"}
xref: icd11.foundation:439383288 {source="Orphanet:23", source="MONDO:equivalentTo"}
xref: MedDRA:10058299 {source="Orphanet:23", source="Orphanet:23/e"}
xref: MEDGEN:78687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056807 {source="Orphanet:23", source="MONDO:equivalentTo", source="Orphanet:23/e", source="DOID:14755"}
xref: NANDO:1200806 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200481 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84569 {source="MONDO:equivalentTo", source="DOID:14755"}
xref: NORD:802 {source="MONDO:NORD"}
xref: OMIM:207900 {source="Orphanet:23", source="MONDO:equivalentTo", source="Orphanet:23/e", source="DOID:14755"}
xref: Orphanet:23 {source="MONDO:equivalentTo", source="OMIM:207900"}
xref: SCTID:124630007 {source="DOID:14755"}
xref: SCTID:41013004 {source="MONDO:equivalentTo", source="DOID:14755"}
xref: UMLS:C0268547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78687"}
is_a: MONDO:0004739 {source="Orphanet:23"} ! urea cycle disorder
is_a: MONDO:0037871 {source="DOID:14755", source="https://github.com/monarch-initiative/mondo/issues/1492"} ! amino acid metabolism disease
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/746 {source="MONDO:mim2gene_medgen"} ! ASL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria" xsd:anyURI {source="GARD:0005843"}

[Term]
id: MONDO:0008816
name: Chiari malformation type II
def: "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." [Orphanet:1136]
subset: gard_rare {source="GARD:9232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_morphological_anomaly {source="Orphanet:1136"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arnold Chiari malformation type II" RELATED [GARD:0009232]
synonym: "Arnold-Chiari malformation" RELATED [OMIM:207950]
synonym: "Arnold-Chiari malformation type 2" EXACT [Orphanet:1136]
synonym: "Arnold-Chiari malformation type II" EXACT [Orphanet:1136]
synonym: "Chiari malformation type 2" EXACT [Orphanet:1136]
synonym: "Chiari malformation type II" EXACT [OMIM:207950, Orphanet:1136]
synonym: "Chiari type II malformation" RELATED [GARD:0009232]
synonym: "Cm2" RELATED [OMIM:207950]
xref: GARD:9232 {source="MONDO:GARD"}
xref: ICD10CM:Q07.0 {source="Orphanet:1136", source="Orphanet:1136/e", source="Orphanet:1136/specific"}
xref: MedDRA:10056945 {source="Orphanet:1136", source="Orphanet:1136/e"}
xref: MEDGEN:108222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:207950 {source="Orphanet:1136", source="MONDO:equivalentTo", source="Orphanet:1136/e"}
xref: Orphanet:1136 {source="OMIM:207950", source="MONDO:equivalentTo"}
xref: SCTID:373587001 {source="MONDO:equivalentTo"}
xref: UMLS:C0555206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108222"}
is_a: MONDO:0000115 {source="DC-OMIM:207950"} ! Chiari malformation
is_a: MONDO:0017069 {source="Orphanet:1136"} ! spina bifida cystica

[Term]
id: MONDO:0008817
name: arterial calcification, generalized, of infancy, 1
def: "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." [NCIT:C128805]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arterial calcification of infancy caused by mutation in ENPP1" EXACT [MONDO:design_pattern]
synonym: "arterial calcification, generalized, of infancy, 1" EXACT [MONDO:Lexical, OMIM:208000]
synonym: "arterial calcification, generalized, of infancy, type 1" EXACT [MONDORULE:1, OMIM:208000]
synonym: "arterial calcification, idiopathic infantile" RELATED [OMIM:208000]
synonym: "arteriopathy, occlusive infantile" RELATED [OMIM:208000]
synonym: "coronary sclerosis, medial, of infancy" RELATED [OMIM:208000]
synonym: "ENPP1 arterial calcification of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Gaci" RELATED [OMIM:208000]
synonym: "GACI1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208000]
synonym: "generalised arterial calcification of infancy 1" EXACT OMO:0003005 []
synonym: "generalized arterial calcification of infancy 1" EXACT [NCIT:C128805]
synonym: "idiopathic infantile arterial calcification" RELATED [OMIM:208000]
xref: MEDGEN:1631685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128805 {source="MONDO:equivalentTo"}
xref: OMIM:208000 {source="MONDO:equivalentTo"}
xref: Orphanet:51608 {source="OMIM:208000"}
xref: UMLS:C4551985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631685"}
is_a: MONDO:0018870 {source="DC-OMIM:208000", source="MONDO:Redundant", source="OMIM:208000"} ! arterial calcification of infancy
intersection_of: MONDO:0018870 ! arterial calcification of infancy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 ! ENPP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 {source="MONDO:mim2gene_medgen"} ! ENPP1

[Term]
id: MONDO:0008818
name: arterial tortuosity syndrome
def: "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." [Orphanet:3342]
subset: gard_rare {source="GARD:774", source="MONDO:GARD"}
subset: nord_rare {source="NORD:803", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3342"}
subset: ordo_malformation_syndrome {source="Orphanet:3342"}
subset: orphanet_rare {source="Orphanet:3342"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arterial tortuosity" RELATED [OMIM:208050]
synonym: "arterial tortuosity syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:208050]
synonym: "ATS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208050, Orphanet:3342]
xref: DOID:0050645 {source="MONDO:equivalentTo"}
xref: GARD:774 {source="MONDO:GARD"}
xref: ICD10CM:I77.1 {source="Orphanet:3342", source="Orphanet:3342/attributed", source="Orphanet:3342/ntbt"}
xref: ICD10CM:Q87.82 {source="MONDO:equivalentTo"}
xref: MEDGEN:347942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565942 {source="MONDO:equivalentTo"}
xref: NORD:803 {source="MONDO:NORD"}
xref: OMIM:208050 {source="Orphanet:3342", source="DOID:0050645", source="MONDO:equivalentTo", source="Orphanet:3342/e"}
xref: Orphanet:3342 {source="MONDO:equivalentTo", source="OMIM:208050"}
xref: SCTID:458432002 {source="MONDO:equivalentTo"}
xref: UMLS:C1859726 {source="MONDO:equivalentTo", source="MEDGEN:347942", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="DOID:0050645"} ! connective tissue disorder
is_a: MONDO:0005385 ! vascular disorder
is_a: MONDO:0100237 {source="Orphanet:3342"} ! inherited cutis laxa
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13444 {source="MONDO:mim2gene_medgen"} ! SLC2A10

[Term]
id: MONDO:0008819
name: arteriosclerosis, severe juvenile
synonym: "arteriosclerosis, severe juvenile" EXACT [OMIM:208060]
xref: MEDGEN:395330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565941 {source="MONDO:equivalentTo"}
xref: OMIM:208060 {source="MONDO:equivalentTo"}
xref: UMLS:C1859725 {source="MONDO:equivalentTo", source="MEDGEN:395330", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008820
name: obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2836" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014243

[Term]
id: MONDO:0008821
name: arthrogryposis, distal, with intellectual disability and characteristic facies
synonym: "arthrogryposis, distal, with intellectual disability and characteristic facies" EXACT [OMIM:208081]
synonym: "arthrogryposis, distal, with mental retardation and characteristic facies" EXACT DEPRECATED [OMIM:208081]
xref: MEDGEN:347220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565940 {source="MONDO:equivalentTo"}
xref: OMIM:208081 {source="MONDO:equivalentTo"}
xref: UMLS:C1859723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347220"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008822
name: arthrogryposis, renal dysfunction, and cholestasis 1
def: "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Arc syndrome" RELATED [OMIM:208085]
synonym: "ARCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208085]
synonym: "arthrogryposis, renal dysfunction, and cholestasis 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:208085]
synonym: "arthrogryposis, renal dysfunction, and cholestasis type 1" EXACT [MONDORULE:1, OMIM:208085]
synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B" EXACT [MONDO:design_pattern]
synonym: "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111353 {source="MONDO:equivalentTo"}
xref: GARD:15139 {source="MONDO:GARD"}
xref: MEDGEN:347219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:208085 {source="MONDO:equivalentTo"}
xref: Orphanet:2697 {source="OMIM:208085"}
xref: UMLS:C1859722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347219"}
is_a: MONDO:0017123 {source="DC-OMIM:208085", source="MONDO:Redundant", source="OMIM:208085", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome
intersection_of: MONDO:0017123 ! arthrogryposis-renal dysfunction-cholestasis syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12712 ! VPS33B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12712 {source="MONDO:mim2gene_medgen"} ! VPS33B

[Term]
id: MONDO:0008823
name: arthrogryposis multiplex congenita 2, neurogenic type
def: "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy." [Orphanet:1143]
subset: gard_rare {source="GARD:790", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1143"}
subset: orphanet_rare {source="Orphanet:1143"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMC neurogenic type" EXACT [DOID:0090124]
synonym: "AMC, neurogenic type" RELATED [OMIM:208100]
synonym: "AMCN" EXACT ABBREVIATION [DOID:0090124, MONDO:Lexical, OMIM:208100]
synonym: "arthrogryposis multiplex congenita neurogenic type" EXACT [DOID:0090124]
synonym: "arthrogryposis multiplex congenita, neurogenic type" RELATED [MONDO:Lexical, OMIM:208100]
synonym: "neurogenic arthrogryposis multiplex congenita" EXACT [Orphanet:1143]
synonym: "neurogenic type of AMC" RELATED [GARD:0000790]
xref: DOID:0090124 {source="MONDO:equivalentTo"}
xref: GARD:790 {source="MONDO:GARD"}
xref: ICD10CM:Q74.3 {source="Orphanet:1143", source="Orphanet:1143/attributed", source="Orphanet:1143/ntbt", source="DOID:0090124"}
xref: MEDGEN:1725686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536614 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e"}
xref: OMIM:208100 {source="Orphanet:1143", source="DOID:0090124", source="MONDO:equivalentTo", source="Orphanet:1143/e"}
xref: Orphanet:1143 {source="DOID:0090124", source="MONDO:equivalentTo", source="OMIM:208100"}
xref: SCTID:715316005 {source="MONDO:equivalentTo"}
xref: UMLS:C5435650 {source="MEDGEN:1725686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015168 {source="Orphanet:1143"} ! arthrogryposis multiplex congenita
intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29205 ! ERGIC1

[Term]
id: MONDO:0008824
name: fetal akinesia deformation sequence
def: "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." [https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence]
subset: gard_rare {source="GARD:9634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis multiplex congenita with pulmonary hypoplasia" RELATED [OMIM:208150]
synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [Orphanet:994]
synonym: "FADS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:208150, Orphanet:994]
synonym: "fetal akinesia deformation sequence" EXACT [MONDO:Lexical, OMIM:208150]
synonym: "fetal akinesia sequence" RELATED [OMIM:208150]
synonym: "foetal akinesia sequence" RELATED OMO:0003005 []
xref: DOID:0111375 {source="MONDO:equivalentTo"}
xref: GARD:9634 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:994", source="Orphanet:994/attributed", source="Orphanet:994/ntbt"}
xref: ICD9:754.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C536647 {source="MONDO:equivalentTo"}
xref: NCIT:C129071 {source="MONDO:equivalentTo"}
xref: OMIMPS:208150 {source="MONDO:equivalentTo"}
xref: SCTID:401138005 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:994"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015168 {source="Orphanet:994"} ! arthrogryposis multiplex congenita
is_a: MONDO:0015929 {source="Orphanet:994"} ! thoracic malformation
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:994", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:208150"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence" xsd:anyURI {source="GARD:0009634"}

[Term]
id: MONDO:0008825
name: arthrogryposis multiplex congenita-whistling face syndrome
def: "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." [Orphanet:1150]
subset: gard_rare {source="GARD:792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1150"}
subset: ordo_malformation_syndrome {source="Orphanet:1150"}
subset: orphanet_rare {source="Orphanet:1150"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis multiplex congenita whistling face" RELATED [GARD:0000792]
synonym: "arthrogryposis, whistling face, and developintellectual disability" RELATED [OMIM:208155]
synonym: "arthrogryposis, whistling face, and developmental retardation" RELATED DEPRECATED [OMIM:208155]
synonym: "ILLUM syndrome" RELATED [OMIM:208155]
synonym: "Illum syndrome" EXACT [Orphanet:1150]
synonym: "lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system" RELATED [GARD:0000792]
xref: GARD:792 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1150/attributed", source="Orphanet:1150/ntbt", source="Orphanet:1150"}
xref: MEDGEN:349231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538401 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="Orphanet:1150"}
xref: OMIM:208155 {source="Orphanet:1150/e", source="MONDO:equivalentTo", source="Orphanet:1150"}
xref: Orphanet:1150 {source="MONDO:equivalentTo", source="OMIM:208155"}
xref: SCTID:720514008 {source="MONDO:equivalentTo"}
xref: UMLS:C1859711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349231"}
is_a: MONDO:0015168 {source="Orphanet:1150"} ! arthrogryposis multiplex congenita
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1150", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations

[Term]
id: MONDO:0008826
name: arthrogryposis-hyperkeratosis syndrome, lethal form
def: "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993." [Orphanet:1485]
subset: gard_rare {source="GARD:3053", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1485"}
subset: ordo_malformation_syndrome {source="Orphanet:1485"}
subset: orphanet_rare {source="Orphanet:1485"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis with hyperkeratosis" RELATED [OMIM:208158]
synonym: "Johnston Aarons Schelley syndrome" RELATED [GARD:0003053]
synonym: "Johnston-Aarons-Schelley syndrome" EXACT [Orphanet:1485]
synonym: "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns" RELATED [GARD:0003053]
xref: GARD:3053 {source="MONDO:GARD"}
xref: MEDGEN:349230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535883 {source="MONDO:equivalentTo"}
xref: OMIM:208158 {source="Orphanet:1485", source="MONDO:equivalentTo", source="Orphanet:1485/e"}
xref: Orphanet:1485 {source="OMIM:208158", source="MONDO:equivalentTo"}
xref: SCTID:726620005 {source="MONDO:equivalentTo"}
xref: UMLS:C1859710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349230"}
is_a: MONDO:0015168 {source="Orphanet:1485"} ! arthrogryposis multiplex congenita

[Term]
id: MONDO:0008827
name: progressive pseudorheumatoid arthropathy of childhood
def: "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." [Orphanet:1159]
subset: gard_rare {source="GARD:9184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1159"}
subset: orphanet_rare {source="Orphanet:1159"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthropathy, progressive pseudorheumatoid, of childhood" RELATED [MONDO:Lexical, OMIM:208230]
synonym: "PPAC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208230]
synonym: "PPD" RELATED AMBIGUOUS [GARD:0009184]
synonym: "progressive pseudorheumatoid arthropathy of childhood" EXACT CLINGEN_LABEL [OMIM:208230]
synonym: "progressive pseudorheumatoid chondrodysplasia" RELATED [GARD:0009184]
synonym: "progressive pseudorheumatoid dysplasia" RELATED [OMIM:208230]
synonym: "SEDT-PA" RELATED [GARD:0009184]
synonym: "spondyloepiphyseal dysplasia tarda - progressive arthropathy" RELATED [GARD:0009184]
synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" RELATED [OMIM:208230]
synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [DOID:0090004, Orphanet:1159]
xref: DOID:0090004 {source="MONDO:equivalentTo"}
xref: GARD:9184 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:1159", source="DOID:0090004", source="Orphanet:1159/attributed", source="Orphanet:1159/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535387 {source="MONDO:equivalentTo", source="Orphanet:1159", source="Orphanet:1159/e"}
xref: OMIM:208230 {source="MONDO:equivalentTo", source="Orphanet:1159", source="DOID:0090004", source="Orphanet:1159/e"}
xref: Orphanet:1159 {source="MONDO:equivalentTo", source="DOID:0090004", source="OMIM:208230"}
xref: SCTID:254065005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96581"}
is_a: MONDO:0005516 {source="DOID:0090004"} ! osteochondrodysplasia
is_a: MONDO:0016761 {source="Orphanet:1159"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12771 {source="MONDO:mim2gene_medgen"} ! CCN6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008828
name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome
def: "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis." [Orphanet:2848]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:306", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2848"}
subset: orphanet_rare {source="Orphanet:2848"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthropathy camptodactyly syndrome" RELATED [GARD:0000306]
synonym: "arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, Orphanet:2848]
synonym: "CACP" EXACT ABBREVIATION [DOID:0090127, MONDO:Lexical, OMIM:208250]
synonym: "CACP syndrome" EXACT [DOID:0090127, Orphanet:2848]
synonym: "camptodactyly arthropathy coxa vara pericarditis syndrome" RELATED [GARD:0000306]
synonym: "camptodactyly arthropathy pericarditis syndrome" RELATED [GARD:0000306]
synonym: "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" EXACT CLINGEN_LABEL [GARD:0000306, MONDO:Lexical, OMIM:208250]
synonym: "camptodactyly-arthropathy-coxa-vara-pericarditis syndrome" RELATED [GARD:0000306]
synonym: "camptodactyly-arthropathy-pericarditis syndrome" EXACT [DOID:0090127]
synonym: "CAP syndrome" RELATED EXCLUDE [DOID:0090127, OMIM:208250]
synonym: "congenital familial hypertrophic synovitis" EXACT [DOID:0090127]
synonym: "familial fibrosing serositis" EXACT [DOID:0090127]
synonym: "fibrosing serositis, familial" RELATED [GARD:0000306, OMIM:208250]
synonym: "hypertrophic synovitis, congenital familial" RELATED [OMIM:208250]
synonym: "Jacobs syndrome" EXACT [DOID:0090127, Orphanet:2848]
synonym: "PAC syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250]
synonym: "pericarditis arthropathy camptodactyly syndrome" RELATED [GARD:0000306]
synonym: "pericarditis-arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250, Orphanet:2848]
xref: DOID:0090127 {source="MONDO:equivalentTo"}
xref: EFO:0009028 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:306 {source="MONDO:GARD"}
xref: MEDGEN:349226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537560 {source="MONDO:equivalentTo"}
xref: OMIM:208250 {source="Orphanet:2848/e", source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="Orphanet:2848"}
xref: Orphanet:2848 {source="MONDO:equivalentTo", source="DOID:0090127", source="GARD:0000306", source="OMIM:208250"}
xref: UMLS:C1859690 {source="MEDGEN:349226", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="MONDO:Redundant"} ! disease
is_a: MONDO:0005554 {source="Orphanet:2848"} ! rheumatic disorder
is_a: MONDO:0006025 {source="DOID:0090127", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:208250"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940", source="MONDO:0021198"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9364 {source="MONDO:mim2gene_medgen"} ! PRG4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome" xsd:anyURI {source="GARD:0000306"}

[Term]
id: MONDO:0008829
name: chylous ascites
def: "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." [Orphanet:1160]
subset: gard_rare {source="GARD:1359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1160"}
subset: orphanet_rare {source="Orphanet:1160"}
subset: rare
synonym: "ascites, chylous" RELATED [OMIM:208300]
synonym: "congenital chylous ascites" RELATED [GARD:0001359]
xref: GARD:1359 {source="MONDO:GARD"}
xref: ICD10CM:I89.8 {source="Orphanet:1160/ntbt", source="Orphanet:1160"}
xref: icd11.foundation:768846885 {source="MONDO:equivalentTo", source="Orphanet:1160"}
xref: ICD9:457.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10003446 {source="Orphanet:1160/e", source="Orphanet:1160"}
xref: MEDGEN:969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002915 {source="Orphanet:1160/e", source="MONDO:equivalentTo", source="Orphanet:1160"}
xref: NCIT:C34482 {source="MONDO:equivalentTo"}
xref: OMIM:208300 {source="Orphanet:1160/e", source="MONDO:equivalentTo", source="Orphanet:1160"}
xref: Orphanet:1160 {source="OMIM:208300", source="MONDO:equivalentTo"}
xref: SCTID:52985009 {source="MONDO:equivalentTo"}
xref: UMLS:C0008732 {source="MEDGEN:969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites" xsd:anyURI {source="GARD:0001359"}

[Term]
id: MONDO:0008830
name: aspartylglucosaminuria
def: "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." [Orphanet:93]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5854", source="MONDO:GARD"}
subset: nord_rare {source="NORD:813", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93"}
subset: orphanet_rare {source="Orphanet:93"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aga deficiency" RELATED [OMIM:208400]
synonym: "AGU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208400]
synonym: "Aspartylglucosamidase (AGA) deficiency" RELATED [GARD:0005854]
synonym: "aspartylglucosaminidase deficiency" EXACT [DOID:0050461, Orphanet:93]
synonym: "aspartylglucosaminuria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:208400]
synonym: "Aspartylglycosaminuria" EXACT [NORD:813]
synonym: "aspartylglycosaminuria" EXACT [DOID:0050461, OMIM:208400]
synonym: "Glycoasparaginase" RELATED [OMIM:208400]
synonym: "glycosylasparaginase deficiency" EXACT [DOID:0050461, OMIM:208400]
xref: DOID:0050461 {source="MONDO:equivalentTo"}
xref: GARD:5854 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:93/attributed", source="Orphanet:93/ntbt", source="Orphanet:93", source="DOID:0050461"}
xref: MedDRA:10068220 {source="Orphanet:93/e", source="Orphanet:93"}
xref: MEDGEN:78649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538402 {source="Orphanet:93/e", source="Orphanet:93"}
xref: MESH:D054880 {source="Orphanet:93/e", source="MONDO:equivalentTo", source="Orphanet:93", source="DOID:0050461"}
xref: NANDO:1200133 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200555 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61273 {source="MONDO:equivalentTo", source="DOID:0050461"}
xref: NORD:813 {source="MONDO:NORD"}
xref: OMIM:208400 {source="Orphanet:93/e", source="MONDO:equivalentTo", source="Orphanet:93", source="DOID:0050461"}
xref: Orphanet:93 {source="OMIM:208400", source="MONDO:equivalentTo"}
xref: SCTID:54954004 {source="MONDO:equivalentTo", source="DOID:0050461"}
xref: UMLS:C0268225 {source="MEDGEN:78649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="DOID:0050461", source="MESH:D054880", source="MONDO:Redundant", source="NCIT:C61273", source="Orphanet:93/inferred"} ! lysosomal storage disease
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019251 {source="Orphanet:93"} ! oligosaccharidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/318 {source="MONDO:mim2gene_medgen"} ! AGA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008831
name: asphyxiating thoracic dystrophy 1
def: "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." [DOID:0110085, PMID:20503315]
subset: gard_rare {source="GARD:15140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "asphyxiating thoracic dystrophy 1" EXACT [OMIM:208500]
synonym: "asphyxiating thoracic dystrophy type 1" EXACT [DOID:0110085, MONDORULE:1]
synonym: "ATD1" EXACT ABBREVIATION [DOID:0110085]
synonym: "Jeune syndrome" RELATED [OMIM:208500]
synonym: "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT [DOID:0110085, MONDO:Lexical, OMIM:208500]
synonym: "SRTD1" EXACT ABBREVIATION [DOID:0110085, MONDO:Lexical, OMIM:208500]
synonym: "thoracic-pelvic-phalangeal dystrophy" RELATED [OMIM:208500]
xref: DOID:0110085 {source="MONDO:equivalentTo"}
xref: GARD:15140 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110085"}
xref: MEDGEN:1648057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:208500 {source="MONDO:equivalentTo", source="DOID:0110085"}
xref: Orphanet:474 {source="OMIM:208500"}
xref: UMLS:C4551856 {source="MEDGEN:1648057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018770 {source="DOID:0110085", source="OMIM:208500"} ! Jeune syndrome

[Term]
id: MONDO:0008832
name: right atrial isomerism
def: "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12." [DOID:0060856, PMID:14648004, PMID:20413652]
subset: gard_rare {source="GARD:6795", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1305"}
subset: ordo_disorder {source="Orphanet:97548"}
subset: ordo_malformation_syndrome {source="Orphanet:97548"}
subset: orphanet_rare {source="Orphanet:97548"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asplenia syndrome" RELATED [GARD:0006795]
synonym: "asplenia with cardiovascular anomalies" EXACT [DOID:0060856]
synonym: "bilateral right-sidedness sequence" RELATED [GARD:0006795]
synonym: "heterotaxy, Visceroatrial, autosomal recessive" RELATED [OMIM:208530]
synonym: "Ivemark Syndrome" EXACT [NORD:1305]
synonym: "Ivemark syndrome" EXACT [DOID:0060856, OMIM:208530]
synonym: "Polyasplenia" RELATED [OMIM:208530]
synonym: "polysplenia syndrome" RELATED [OMIM:208530]
synonym: "RAI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208530]
synonym: "right atrial isomerism" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:208530]
synonym: "right atrial isomerism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "right atrial isomerism (ivemark)" EXACT [OMIM:208530, OMIM:genemap2]
synonym: "right isomerism" RELATED [OMIM:208530]
synonym: "splenic agenesis syndrome" RELATED [GARD:0006795]
synonym: "Vah, autosomal recessive" RELATED [OMIM:208530]
xref: DOID:0060856 {source="MONDO:equivalentTo"}
xref: GARD:6795 {source="MONDO:GARD"}
xref: HP:0011536 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q20.6 {source="Orphanet:97548", source="DOID:0060856", source="Orphanet:97548/attributed", source="Orphanet:97548/ntbt"}
xref: MedDRA:10068335 {source="Orphanet:97548", source="Orphanet:97548/e"}
xref: MEDGEN:465274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1305 {source="MONDO:NORD"}
xref: OMIM:208530 {source="MONDO:equivalentTo", source="Orphanet:97548", source="DOID:0060856", source="Orphanet:97548/e"}
xref: Orphanet:97548 {source="MONDO:equivalentTo", source="DOID:0060856", source="OMIM:208530"}
xref: UMLS:C3178806 {source="MEDGEN:465274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018677 {source="DOID:0060856", source="Orphanet:97548"} ! visceral heterotaxy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4214 {source="MONDO:mim2gene_medgen"} ! GDF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "right atrial isomerism (disease)" xsd:string

[Term]
id: MONDO:0008833
name: renal-hepatic-pancreatic dysplasia 1
def: "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18431", source="MONDO:GARD"}
subset: rare
synonym: "NPHP3 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "renal-hepatic-pancreatic dysplasia 1" EXACT [MONDO:Lexical, OMIM:208540]
synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3" EXACT [MONDO:design_pattern]
synonym: "renal-hepatic-pancreatic dysplasia type 1" EXACT [MONDORULE:1, OMIM:208540]
synonym: "Rhpd" RELATED [OMIM:208540]
synonym: "RHPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208540]
xref: GARD:18431 {source="MONDO:GARD"}
xref: MEDGEN:811626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:208540 {source="MONDO:equivalentTo"}
xref: Orphanet:294415 {source="OMIM:208540"}
xref: UMLS:C3715199 {source="MEDGEN:811626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017417 {source="DC-OMIM:208540", source="MONDO:Redundant", source="OMIM:208540"} ! renal-hepatic-pancreatic dysplasia
intersection_of: MONDO:0017417 ! renal-hepatic-pancreatic dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 ! NPHP3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 {source="MONDO:mim2gene_medgen"} ! NPHP3

[Term]
id: MONDO:0008834
name: asthma, nasal polyps, and aspirin intolerance
synonym: "Asa triad" RELATED [OMIM:208550]
synonym: "asthma and nasal polyps" RELATED [OMIM:208550]
synonym: "asthma, aspirin-induced, susceptibility to" RELATED [OMIM:208550]
synonym: "asthma, nasal polyps, and aspirin intolerance" EXACT [OMIM:208550]
xref: DOID:0111579 {source="MONDO:equivalentTo"}
xref: MEDGEN:347198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:208550 {source="MONDO:equivalentTo"}
xref: UMLS:C1859648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347198"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008835
name: asthma, short stature, and elevated IgA
synonym: "asthma, short stature, and elevated IgA" EXACT [OMIM:208600]
xref: MEDGEN:395313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565934 {source="MONDO:equivalentTo"}
xref: OMIM:208600 {source="MONDO:equivalentTo"}
xref: UMLS:C1859647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395313"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008836
name: ataxia with myoclonic epilepsy and presenile dementia
synonym: "ataxia with myoclonic epilepsy and presenile dementia" EXACT [OMIM:208700]
xref: MEDGEN:347924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565933 {source="MONDO:equivalentTo"}
xref: OMIM:208700 {source="MONDO:equivalentTo"}
xref: UMLS:C1859646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347924"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008837
name: ataxia, deafness, and cardiomyopathy
synonym: "ataxia, deafness, and cardiomyopathy" EXACT [OMIM:208750]
xref: MEDGEN:395312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565932 {source="MONDO:equivalentTo"}
xref: OMIM:208750 {source="MONDO:equivalentTo"}
xref: UMLS:C1859645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395312"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008838
name: ataxia - deafness - intellectual disability syndrome
def: "This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit." [Orphanet:1188]
subset: gard_rare {source="GARD:4644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1188"}
subset: ordo_malformation_syndrome {source="Orphanet:1188"}
subset: orphanet_rare {source="Orphanet:1188"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adr syndrome" RELATED [OMIM:208850]
synonym: "ataxia, hearing loss, and intellectual disability" RELATED [GARD:0004644]
synonym: "ataxia, hearing loss, and mental retardation" RELATED DEPRECATED [GARD:0004644]
synonym: "ataxia-deafness-retardation syndrome" RELATED [OMIM:208850]
synonym: "ataxia-hearing loss-intellectual disability syndrome" EXACT [Orphanet:1188]
synonym: "familial ataxia, deafness, and developmental delay" RELATED [GARD:0004644]
synonym: "Reardon Wilson Cavanagh syndrome" RELATED [GARD:0004644]
synonym: "Reardon-Baraitser syndrome" EXACT [Orphanet:1188]
xref: GARD:4644 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:1188/attributed", source="Orphanet:1188/ntbt", source="Orphanet:1188"}
xref: MEDGEN:208659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535295 {source="MONDO:equivalentTo"}
xref: OMIM:208850 {source="Orphanet:1188", source="MONDO:equivalentTo", source="Orphanet:1188/e"}
xref: Orphanet:1188 {source="OMIM:208850", source="MONDO:equivalentTo"}
xref: SCTID:720517001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796045 {source="MEDGEN:208659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016612 {source="Orphanet:1188"} ! X-linked cerebellar ataxia

[Term]
id: MONDO:0008839
name: ataxia-microcephaly-cataract syndrome
synonym: "AMC syndrome" RELATED [OMIM:208870]
synonym: "ataxia-microcephaly-cataract syndrome" EXACT [OMIM:208870]
xref: MEDGEN:167098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563086 {source="MONDO:equivalentTo"}
xref: OMIM:208870 {source="MONDO:equivalentTo"}
xref: UMLS:C0796056 {source="MEDGEN:167098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563086/inferred"} ! hereditary disease

[Term]
id: MONDO:0008840
name: ataxia telangiectasia
def: "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." [Orphanet:100]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:816"}
subset: ordo_disorder {source="Orphanet:100"}
subset: orphanet_rare {source="Orphanet:100"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208900]
synonym: "AT, complementation group A" RELATED [OMIM:208900]
synonym: "AT, complementation group C" RELATED [OMIM:208900]
synonym: "AT, complementation group D" RELATED [OMIM:208900]
synonym: "AT, complementation group E" RELATED [OMIM:208900]
synonym: "AT1" RELATED ABBREVIATION [OMIM:208900]
synonym: "ataxia - telangiectasia" EXACT [MONDO:Lexical, NCIT:C2887, OMIM:208900]
synonym: "ataxia - telangiectasia variant" RELATED [OMIM:208900]
synonym: "ataxia telangiectasia" EXACT CLINGEN_LABEL [NCIT:C2887]
synonym: "ataxia telangiectasia syndrome" EXACT [NCIT:C2887]
synonym: "ataxia-telangiectasia" RELATED [OMIM:208900]
synonym: "boder-Sedgwick syndrome" EXACT [DOID:12704]
synonym: "cerebello-oculocutaneous telangiectasia" RELATED [GARD:0005862]
synonym: "immunodeficiency with ataxia telangiectasia" RELATED [GARD:0005862]
synonym: "Louis Bar syndrome" EXACT [DOID:12704]
synonym: "Louis-Bar syndrome" EXACT [NCIT:C2887, OMIM:208900, Orphanet:100]
xref: DOID:12704 {source="MONDO:equivalentTo"}
xref: GARD:5862 {source="MONDO:GARD"}
xref: ICD10CM:G11.3 {source="Orphanet:100/ntbt", source="Orphanet:100/inclusion", source="Orphanet:100"}
xref: ICD9:334.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10003594 {source="Orphanet:100/e", source="Orphanet:100"}
xref: MEDGEN:439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001260 {source="Orphanet:100/e", source="DOID:12704", source="MONDO:equivalentTo", source="Orphanet:100"}
xref: NANDO:1200331 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200705 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2887 {source="DOID:12704", source="MONDO:equivalentTo"}
xref: NORD:816 {source="MONDO:NORD"}
xref: OMIM:208900 {source="Orphanet:100/e", source="DOID:12704", source="MONDO:equivalentTo", source="Orphanet:100"}
xref: Orphanet:100 {source="MONDO:equivalentTo", source="OMIM:208900"}
xref: SCTID:68504005 {source="DOID:12704", source="MONDO:equivalentTo"}
xref: UMLS:C0004135 {source="MEDGEN:439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:100"} ! disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015131 {source="NCIT:C2887"} ! combined immunodeficiency
is_a: MONDO:0019852 {source="Orphanet:100"} ! inherited primary ovarian failure
relationship: excluded_subClassOf MONDO:0019293 {source="Orphanet:100", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease
relationship: excluded_subClassOf MONDO:0042983 {source="MESH:D001260", source="NCIT:C2887", source="Wikipedia:Phakomatosis", source="https://orcid.org/0000-0001-5208-3432"} ! neurocutaneous syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/795 {source="MONDO:mim2gene_medgen"} ! ATM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia" xsd:anyURI {source="GARD:0005862"}

[Term]
id: MONDO:0008841
name: ataxia-telangiectasia with generalized skin pigmentation and early death
subset: gard_rare {source="GARD:15141", source="MONDO:GARD"}
subset: rare
synonym: "ataxia-telangiectasia with generalized skin pigmentation and early death" EXACT [OMIM:208910]
xref: GARD:15141 {source="MONDO:GARD"}
xref: MEDGEN:395306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565930 {source="MONDO:equivalentTo"}
xref: OMIM:208910 {source="MONDO:equivalentTo"}
xref: Orphanet:100 {source="OMIM:208910"}
xref: UMLS:C1859615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395306"}
is_a: MONDO:0008840 {source="MESH:C565930", source="Orphanet:100/btnt"} ! ataxia telangiectasia

[Term]
id: MONDO:0008842
name: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
def: "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." [Orphanet:1168]
comment: Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency,
subset: gard_rare {source="GARD:9283", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1168"}
subset: orphanet_rare {source="Orphanet:1168"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AOA1" EXACT ABBREVIATION [Orphanet:1168]
synonym: "APTX oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ataxia with oculomotor apraxia type 1" EXACT [Orphanet:1168]
synonym: "ataxia, adult-onset, with oculomotor apraxia" RELATED [OMIM:208920]
synonym: "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" EXACT [MONDO:Lexical, OMIM:208920]
synonym: "ataxia-oculomotor apraxia 1" RELATED [OMIM:208920]
synonym: "ataxia-oculomotor apraxia syndrome" RELATED [OMIM:208920]
synonym: "ataxia-oculomotor apraxia type 1" RELATED [Orphanet:1168]
synonym: "ataxia-telangiectasia-like syndrome" RELATED [OMIM:208920]
synonym: "cerebellar ataxia, early-onset, with hypoalbuminemia" RELATED [OMIM:208920]
synonym: "EAOH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208920]
synonym: "early-onset ataxia with oculomotor apraxia and hypoalbuminemia" RELATED [GARD:0009283]
synonym: "early-onset cerebellar ataxia with hypoalbuminemia" RELATED [GARD:0009283]
synonym: "EOCA-HA" RELATED [GARD:0009283]
synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in APTX" EXACT [MONDO:design_pattern]
xref: DOID:0050754 {source="MONDO:equivalentTo"}
xref: GARD:9283 {source="MONDO:GARD"}
xref: ICD10CM:G11.3 {source="Orphanet:1168/attributed", source="Orphanet:1168/ntbt", source="Orphanet:1168"}
xref: MEDGEN:395301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538013 {source="MONDO:equivalentTo"}
xref: NANDO:1200051 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:208920 {source="Orphanet:1168", source="MONDO:equivalentTo", source="DOID:0050754", source="Orphanet:1168/e"}
xref: Orphanet:1168 {source="OMIM:208920", source="MONDO:equivalentTo"}
xref: UMLS:C1859598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395301"}
is_a: MONDO:0011457 ! ataxia-telangiectasia-like disorder
is_a: MONDO:0021190 {source="PMID:20687492"} ! DNA repair disease
relationship: disease_has_feature MONDO:0018151 {source="Orphanet:1168-modified", source="PMID:17094036"} ! coenzyme Q10 deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15984 {source="MONDO:mim2gene_medgen"} ! APTX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5347" xsd:anyURI

[Term]
id: MONDO:0008843
name: atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
def: "A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994." [Orphanet:1192]
subset: gard_rare {source="GARD:2279", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1192"}
subset: ordo_malformation_syndrome {source="Orphanet:1192"}
subset: orphanet_rare {source="Orphanet:1192"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" RELATED [OMIM:209010]
synonym: "Feigenbaum Bergeron Richardson syndrome" RELATED [GARD:0002279]
synonym: "Feigenbaum-Bergeron-Richardson syndrome" EXACT [Orphanet:1192]
synonym: "premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder" RELATED [GARD:0002279]
xref: GARD:2279 {source="MONDO:GARD"}
xref: MEDGEN:349198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565928 {source="MONDO:equivalentTo"}
xref: OMIM:209010 {source="Orphanet:1192/e", source="MONDO:equivalentTo", source="Orphanet:1192"}
xref: Orphanet:1192 {source="MONDO:equivalentTo", source="OMIM:209010"}
xref: SCTID:720519003 {source="MONDO:equivalentTo"}
xref: UMLS:C1859596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349198"}
is_a: MONDO:0003847 {source="OMIM:209010"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:1192", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome

[Term]
id: MONDO:0008844
name: Athrombia, essential
synonym: "Athrombia, essential" EXACT [OMIM:209050]
xref: MEDGEN:349197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565927 {source="MONDO:equivalentTo"}
xref: OMIM:209050 {source="MONDO:equivalentTo"}
xref: UMLS:C1859595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349197"}
is_a: MONDO:0003847 {source="MESH:C565927/inferred"} ! hereditary disease

[Term]
id: MONDO:0008845
name: atonic-astatic syndrome of Foerster
synonym: "atonic-astatic syndrome of Foerster" EXACT [OMIM:209100]
xref: MEDGEN:395300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565926 {source="MONDO:equivalentTo"}
xref: OMIM:209100 {source="MONDO:equivalentTo"}
xref: UMLS:C1859594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395300"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008846
name: atransferrinemia
def: "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." [Orphanet:1195]
subset: gard_rare {source="GARD:9595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:819"}
subset: ordo_disorder {source="Orphanet:1195"}
subset: orphanet_rare {source="Orphanet:1195"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atransferrinemia" EXACT [OMIM:209300]
synonym: "congenital atransferrinemia" EXACT [NCIT:C125693]
synonym: "congenital hypotransferrinemia" EXACT [Orphanet:1195]
synonym: "familial hypotransferrinemia" EXACT [DOID:0050649]
synonym: "hereditary atransferrinemia" EXACT [NCIT:C125693]
synonym: "hypotransferrinemia, familial" RELATED [OMIM:209300]
synonym: "transferrin serum level quantitative trait locus 1" RELATED [OMIM:209300]
xref: DOID:0050649 {source="MONDO:equivalentTo"}
xref: GARD:9595 {source="MONDO:GARD"}
xref: ICD10CM:E88.0 {source="Orphanet:1195/index", source="Orphanet:1195/e", source="Orphanet:1195"}
xref: MEDGEN:105489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538259 {source="Orphanet:1195/e", source="MONDO:equivalentTo", source="Orphanet:1195"}
xref: NANDO:2100180 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200617 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125693 {source="MONDO:equivalentTo"}
xref: NORD:819 {source="MONDO:NORD"}
xref: OMIM:209300 {source="Orphanet:1195/e", source="MONDO:equivalentTo", source="DOID:0050649", source="Orphanet:1195"}
xref: Orphanet:1195 {source="MONDO:equivalentTo", source="OMIM:209300"}
xref: SCTID:111571009 {source="MONDO:equivalentTo"}
xref: UMLS:C0521802 {source="MEDGEN:105489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004689 {source="DOID:0050649", source="MESH:C538259"} ! inborn metal metabolism disorder
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0017763 {source="Orphanet:1195"} ! disorder of iron metabolism and transport
relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11740 {source="MONDO:mim2gene_medgen"} ! TF
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia" xsd:anyURI {source="GARD:0009595"}

[Term]
id: MONDO:0008847
name: atrichia with papular lesions
def: "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." [Orphanet:86819]
subset: gard_rare {source="GARD:16762", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86819"}
subset: orphanet_rare {source="Orphanet:86819"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "APL" RELATED ABBREVIATION [DOID:0060689, MONDO:Lexical, OMIM:209500]
synonym: "atrichia with papular lesions" EXACT [MONDO:Lexical, OMIM:209500]
synonym: "papular atrichia" EXACT [DOID:0060689, OMIM:209500, Orphanet:86819]
xref: DOID:0060689 {source="MONDO:equivalentTo"}
xref: GARD:16762 {source="MONDO:GARD"}
xref: ICD10CM:L65.8 {source="Orphanet:86819/attributed", source="Orphanet:86819/ntbt", source="DOID:0060689", source="Orphanet:86819"}
xref: MEDGEN:395299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565924 {source="MONDO:equivalentTo"}
xref: OMIM:209500 {source="Orphanet:86819/e", source="MONDO:equivalentTo", source="DOID:0060689", source="Orphanet:86819"}
xref: Orphanet:86819 {source="OMIM:209500", source="MONDO:equivalentTo", source="DOID:0060689"}
xref: SCTID:715963002 {source="MONDO:equivalentTo"}
xref: UMLS:C1859592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395299"}
is_a: MONDO:0004907 {source="DOID:0060689", source="MESH:C565924", source="Orphanet:86819"} ! alopecia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5172 {source="MONDO:mim2gene_medgen"} ! HR

[Term]
id: MONDO:0008848
name: atrioventricular dissociation
def: "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." [MESH:D006327]
subset: otar {source="MONDO:OTAR"}
synonym: "A-V dissociation" RELATED [OMIM:209600]
synonym: "atrioventricular dissociation" EXACT [MONDO:ambiguous, OMIM:209600]
synonym: "atrioventricular dissociation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0011709 {source="MONDO:otherHierarchy"}
xref: ICD9:426.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:2496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006327 {source="MONDO:equivalentTo"}
xref: OMIM:209600 {source="MONDO:equivalentTo"}
xref: SCTID:50799005 {source="MONDO:equivalentTo"}
xref: UMLS:C0004331 {source="MEDGEN:2496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "atrioventricular dissociation (disease)" xsd:string

[Term]
id: MONDO:0008849
name: atrophoderma vermiculata
subset: gard_rare {source="GARD:9744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79100"}
subset: orphanet_rare {source="Orphanet:79100"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrophoderma vermiculata" EXACT [MONDO:Lexical, OMIM:209700]
synonym: "atrophoderma vermiculatum" RELATED [GARD:0009744]
synonym: "Atrophodermia reticulata" RELATED [GARD:0009744]
synonym: "Atrophodermia reticulata symmetrica faciei" RELATED [OMIM:209700]
synonym: "Atrophodermia vermiculata" RELATED [OMIM:209700]
synonym: "ava" RELATED [MONDO:Lexical, OMIM:209700]
synonym: "folliculitis ulerythematosa" RELATED [GARD:0009744]
synonym: "folliculitis ulerythematosa reticulata" RELATED [OMIM:209700]
synonym: "folliculitis ulerythematosa reticulate" EXACT [Orphanet:79100]
synonym: "honeycomb atrophy" RELATED [OMIM:209700]
xref: DOID:0080756 {source="MONDO:equivalentTo"}
xref: GARD:9744 {source="MONDO:GARD"}
xref: ICD10CM:L66.4 {source="Orphanet:79100", source="Orphanet:79100/ntbt", source="Orphanet:79100/index"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:209700 {source="Orphanet:79100/e", source="MONDO:equivalentTo", source="Orphanet:79100"}
xref: Orphanet:79100 {source="OMIM:209700", source="MONDO:equivalentTo"}
xref: SCTID:2736005 {source="MONDO:equivalentTo"}
xref: UMLS:C0263429 {source="MEDGEN:82666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018855 {source="Orphanet:79100"} ! keratosis pilaris atrophicans
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata" xsd:anyURI {source="GARD:0009744"}

[Term]
id: MONDO:0008850
name: Cooper-Jabs syndrome
def: "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." [Orphanet:1488]
subset: gard_rare {source="GARD:16567", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1488"}
subset: ordo_malformation_syndrome {source="Orphanet:1488"}
subset: orphanet_rare {source="Orphanet:1488"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aural atresia, multiple congenital anomalies, and intellectual disability" RELATED [OMIM:209770]
synonym: "aural atresia, multiple congenital anomalies, and mental retardation" RELATED DEPRECATED [OMIM:209770]
synonym: "aural atresia-multiple congenital anomalies-intellectual disability syndrome" EXACT [Orphanet:1488]
xref: GARD:16567 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1488/attributed", source="Orphanet:1488/ntbt", source="Orphanet:1488"}
xref: MEDGEN:347912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565923 {source="MONDO:equivalentTo"}
xref: OMIM:209770 {source="Orphanet:1488", source="MONDO:equivalentTo", source="Orphanet:1488/e"}
xref: Orphanet:1488 {source="MONDO:equivalentTo", source="OMIM:209770"}
xref: SCTID:720748007 {source="MONDO:equivalentTo"}
xref: UMLS:C1859591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347912"}
is_a: MONDO:0015161 {source="Orphanet:1488"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1488", source="Orphanet:1488/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0008851
name: obsolete autism
is_obsolete: true
replaced_by: MONDO:0005260

[Term]
id: MONDO:0008852
name: obsolete congenital central hypoventilation syndrome
xref: NANDO:1200753 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100032 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200198 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4501" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800026

[Term]
id: MONDO:0008853
name: Barber-Say syndrome
def: "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." [Orphanet:1231]
subset: gard_rare {source="GARD:819", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:875"}
subset: ordo_disorder {source="Orphanet:1231"}
subset: ordo_malformation_syndrome {source="Orphanet:1231"}
subset: orphanet_rare {source="Orphanet:1231"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Barber Say syndrome" RELATED [GARD:0000819]
synonym: "BARBER-SAY syndrome" RELATED [OMIM:209885]
synonym: "Barber-Say syndrome" EXACT [MONDO:Lexical, OMIM:209885]
synonym: "BBRSAY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:209885]
synonym: "Brown Séquard Syndrome" EXACT [NORD:875]
synonym: "Bss" RELATED [OMIM:209885]
synonym: "hypertrichosis atrophic skin ectropion macrostomia" RELATED [GARD:0000819]
synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" RELATED [GARD:0000819, OMIM:209885]
synonym: "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome" EXACT [Orphanet:1231]
xref: DOID:0060549 {source="MONDO:equivalentTo"}
xref: GARD:819 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1231", source="Orphanet:1231/attributed", source="Orphanet:1231/ntbt"}
xref: MEDGEN:230818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537908 {source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"}
xref: NORD:875 {source="MONDO:NORD"}
xref: OMIM:209885 {source="GARD:0000819", source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"}
xref: Orphanet:1231 {source="GARD:0000819", source="OMIM:209885", source="MONDO:equivalentTo", source="DOID:0060549"}
xref: SCTID:408537003 {source="MONDO:equivalentTo", source="DOID:0060549"}
xref: UMLS:C1319466 {source="MEDGEN:230818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:1231"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019280 {source="MESH:C537908", source="Orphanet:1231"} ! hypertrichosis
is_a: MONDO:0019287 {source="Orphanet:1231"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020159 {source="Orphanet:1231"} ! congenital entropion
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20670 {source="MONDO:mim2gene_medgen"} ! TWIST2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome" xsd:anyURI {source="GARD:0000819"}

[Term]
id: MONDO:0008854
name: Bardet-Biedl syndrome 1
def: "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." [DOID:0110123, PMID:20177705]
subset: gard_rare {source="GARD:820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 1" EXACT [MONDO:Lexical, OMIM:209900]
synonym: "Bardet-Biedl syndrome 1, modifier of" EXACT [OMIM:209900, OMIM:genemap2]
synonym: "Bardet-Biedl syndrome type 1" EXACT [DOID:0110123, MONDORULE:1, OMIM:209900]
synonym: "BBS1" EXACT ABBREVIATION [DOID:0110123, GARD:0000820, MONDO:Lexical, OMIM:209900]
xref: DOID:0110123 {source="MONDO:equivalentTo"}
xref: GARD:820 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110123"}
xref: MEDGEN:422452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537909 {source="MONDO:equivalentTo"}
xref: OMIM:209900 {source="GARD:0000820", source="MONDO:equivalentTo", source="DOID:0110123"}
xref: Orphanet:110 {source="GARD:0000820"}
xref: UMLS:C2936862 {source="MEDGEN:422452", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:209900", source="DOID:0110123", source="EFO:0009021", source="MESH:C537909", source="MONDO:Redundant", source="OMIM:209900"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/966 ! BBS1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:209900"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008855
name: MHC class II deficiency
def: "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." [Orphanet:572]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:572"}
subset: orphanet_rare {source="Orphanet:572"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BARE lymphocyte syndrome" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome" RELATED [OMIM:209920]
synonym: "Bare lymphocyte syndrome 2" RELATED [GARD:0000824]
synonym: "Bare lymphocyte syndrome type 2" RELATED [GARD:0000824, MESH:C537079, Orphanet:572]
synonym: "bare lymphocyte syndrome type II" RELATED [DOID:5812]
synonym: "Bare lymphocyte syndrome, type 2" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II" RELATED [OMIM:209920]
synonym: "Bare lymphocyte syndrome, type II" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome, type II, complementation group A" RELATED [OMIM:209920]
synonym: "Bare lymphocyte syndrome, type II, complementation group B" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II, complementation group B, included" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome, type II, complementation group C" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II, complementation group C, included" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome, type II, complementation group D" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II, complementation group D, included" RELATED [MESH:C537079]
synonym: "Bare lymphocyte syndrome, type II, complementation group E" RELATED [OMIM:209920]
synonym: "BARE lymphocyte syndrome, type II, complementation group E, included" RELATED [MESH:C537079]
synonym: "BLS" RELATED ABBREVIATION [MESH:C537079]
synonym: "BLS 2" RELATED [GARD:0000824]
synonym: "BLS type II" RELATED [MESH:C537079]
synonym: "Bls, type 2" RELATED [OMIM:209920]
synonym: "BLS, type II" RELATED [MESH:C537079]
synonym: "BLSII" RELATED ABBREVIATION [DOID:5812]
synonym: "HLA class 2-negative SCID" EXACT [Orphanet:572]
synonym: "HLA class 2-negative severe combined immunodeficiency" EXACT [Orphanet:572]
synonym: "immunodeficiency by defective expression of HLA class 2" RELATED [Orphanet:572]
synonym: "immunodeficiency by defective expression of HLA class type 2" EXACT [MONDORULE:1, Orphanet:572]
synonym: "major histocompatibility complex class II expression deficiency" EXACT [Orphanet:572]
synonym: "MHC class II expression deficiency" EXACT [Orphanet:572]
synonym: "SCID due to absent class II HLA antigens" EXACT [DOID:5812]
synonym: "SCID, HLA Class 2-negative" RELATED [GARD:0000824, MESH:C537079]
synonym: "SCID, HLA Class II-negative" RELATED [MESH:C537079, OMIM:209920]
synonym: "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included" RELATED [MESH:C537079]
synonym: "severe combined immunodeficiency, HLA Class II-negative" RELATED [OMIM:209920]
synonym: "severe combined immunodeficiency, HLA class ii-negative" RELATED [GARD:0000824, MESH:C537079]
xref: DOID:5812 {source="MONDO:equivalentTo"}
xref: GARD:824 {source="MONDO:GARD"}
xref: ICD10CM:D81.6 {source="DOID:5812"}
xref: ICD10CM:D81.7 {source="Orphanet:572/specific", source="Orphanet:572/e", source="Orphanet:572"}
xref: icd11.foundation:2021339495 {source="MONDO:equivalentTo", source="Orphanet:572", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:444051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537079 {source="MONDO:equivalentTo"}
xref: MESH:D016511 {source="MONDO:relatedTo", source="DOID:5812"}
xref: NANDO:1200329 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200702 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C176823 {source="MONDO:equivalentTo"}
xref: NCIT:C3895 {source="DOID:5812", source="MONDO:equivalentTo"}
xref: OMIM:209920 {source="Orphanet:572/e", source="DOID:5812", source="GARD:0000824", source="MONDO:mondoIsBroaderThanSource", source="Orphanet:572"}
xref: OMIMPS:209920 {source="MONDO:equivalentTo"}
xref: Orphanet:572 {source="OMIM:209920", source="MONDO:equivalentTo", source="GARD:0000824"}
xref: SCTID:71904008 {source="DOID:5812", source="MONDO:equivalentTo"}
xref: UMLS:C2931418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444051"}
is_a: MONDO:0031520 {source="OMIM:209920"} ! familial severe combined immunodeficiency
relationship: excluded_from_qc_check MONDO:0018814 {source="Orphanet:572"} ! non-SCID combined immunodeficiency
relationship: excluded_subClassOf MONDO:0015974 {source="DOID:5812", source="https://github.com/monarch-initiative/mondo-build/issues/108", source="https://orcid.org/0000-0001-5208-3432"} ! severe combined immunodeficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:209920"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2" xsd:anyURI {source="GARD:0000824"}

[Term]
id: MONDO:0008856
name: immunodeficiency 27A
synonym: "atypical mycobacterial infection, disseminated" RELATED [GARD:0009185]
synonym: "atypical mycobacterial infection, familial disseminated" RELATED [GARD:0009185]
synonym: "atypical mycobacteriosis, familial" RELATED [GARD:0009185]
synonym: "IFNGR1 deficiency, autosomal recessive" RELATED [OMIM:209950]
synonym: "IMD27A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:209950]
synonym: "immunodeficiency 27A" EXACT [MONDO:Lexical, OMIM:209950]
synonym: "immunodeficiency 27A, mycobacteriosis, AR" EXACT [OMIM:209950, OMIM:genemap2]
synonym: "immunodeficiency 27A, Mycobacteriosis, autosomal recessive" RELATED [OMIM:209950]
synonym: "immunodeficiency type 27A" EXACT [MONDORULE:4, OMIM:209950]
synonym: "mycobacterial disease, Mendelian susceptibility to" RELATED [GARD:0009185]
xref: DOID:0111955 {source="MONDO:equivalentTo"}
xref: MEDGEN:860386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176806 {source="MONDO:equivalentTo"}
xref: OMIM:209950 {source="MONDO:equivalentTo"}
xref: Orphanet:319569 {source="OMIM:209950"}
xref: Orphanet:99898 {source="OMIM:209950", source="MONDO:relatedTo"}
xref: UMLS:C4011949 {source="MEDGEN:860386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
intersection_of: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5439 ! IFNGR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5439 {source="MONDO:mim2gene_medgen"} ! IFNGR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4472" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008857
name: Beemer-Ertbruggen syndrome
def: "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." [Orphanet:1237]
subset: gard_rare {source="GARD:846", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1237"}
subset: ordo_malformation_syndrome {source="Orphanet:1237"}
subset: orphanet_rare {source="Orphanet:1237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beemer Ertbruggen syndrome" RELATED [GARD:0000846]
synonym: "Beemer lethal malformation syndrome" RELATED [OMIM:209970]
synonym: "hydrocephalus, cardiac malformation, dense bones, etc" RELATED [GARD:0000846]
synonym: "hydrocephalus, Cardiac malformation, dense bones, etc." RELATED [OMIM:209970]
synonym: "lethal hydrocephalus-cardiac malformation-dense bones syndrome" EXACT [Orphanet:1237]
synonym: "peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome" RELATED [GARD:0000846]
xref: GARD:846 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1237", source="Orphanet:1237/attributed", source="Orphanet:1237/ntbt"}
xref: MEDGEN:347174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537668 {source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e"}
xref: OMIM:209970 {source="MONDO:equivalentTo", source="Orphanet:1237", source="Orphanet:1237/e"}
xref: Orphanet:1237 {source="MONDO:equivalentTo", source="OMIM:209970"}
xref: SCTID:717859007 {source="MONDO:equivalentTo"}
xref: UMLS:C1859526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347174"}
is_a: MONDO:0015161 {source="Orphanet:1237"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1237", source="Orphanet:1237/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome" xsd:anyURI {source="GARD:0000846"}

[Term]
id: MONDO:0008858
name: Behr syndrome
def: "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/849/behr-syndrome]
subset: gard_rare {source="GARD:849", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1239"}
subset: ordo_malformation_syndrome {source="Orphanet:1239"}
subset: orphanet_rare {source="Orphanet:1239"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Behr syndrome" EXACT [OMIM:210000]
synonym: "BEHRS" RELATED ABBREVIATION [OMIM:210000]
synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss" RELATED [GARD:0000849]
synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" RELATED DEPRECATED [GARD:0000849]
synonym: "optic atrophy, infantile hereditary, Behr complicated form of" RELATED [GARD:0000849]
synonym: "optic atrophy, infantile hereditary, with neurologic abnormalities" RELATED [OMIM:210000]
xref: DOID:0111580 {source="MONDO:equivalentTo"}
xref: GARD:849 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:1239", source="Orphanet:1239/index", source="Orphanet:1239/ntbt"}
xref: MEDGEN:66358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537669 {source="MONDO:equivalentTo", source="Orphanet:1239", source="Orphanet:1239/e"}
xref: NCIT:C177251 {source="MONDO:equivalentTo"}
xref: OMIM:210000 {source="MONDO:equivalentTo", source="Orphanet:1239", source="Orphanet:1239/e"}
xref: Orphanet:1239 {source="MONDO:equivalentTo"}
xref: SCTID:718221007 {source="MONDO:equivalentTo"}
xref: UMLS:C0221061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66358"}
is_a: MONDO:0003847 {source="OMIM:210000"} ! hereditary disease
is_a: MONDO:0005071 {source="DOID:0111580"} ! nervous system disorder
is_a: MONDO:0800181 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! OPA1-related optic atrophy with or without extraocular features
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic HP:0000007 {source="DOID:0111580"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5475" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/849/behr-syndrome" xsd:anyURI {source="GARD:0000849"}

[Term]
id: MONDO:0008859
name: berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
synonym: "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" EXACT [OMIM:210050]
synonym: "cerebral aneurysm-cirrhosis syndrome" RELATED [OMIM:210050]
xref: MEDGEN:347170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565905 {source="MONDO:equivalentTo"}
xref: OMIM:210050 {source="MONDO:equivalentTo"}
xref: UMLS:C1859519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347170"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8552/berry-aneurysm-cirrhosis-pulmonary-emphysema-and-cerebral-calcification" xsd:anyURI {source="GARD:0008552"}

[Term]
id: MONDO:0008860
name: beta-aminoisobutyric acid, urinary excretion of
synonym: "Baib urinary excretion" RELATED [OMIM:210100]
synonym: "BAIBA" RELATED ABBREVIATION [OMIM:210100]
synonym: "beta-aminoisobutyric acid, urinary excretion of" EXACT [OMIM:210100, OMIM:genemap2]
synonym: "BETA-aminoisobutyric aciduria" RELATED [OMIM:210100]
synonym: "Beta-aminoisobutyric aciduria" RELATED [OMIM:210100]
synonym: "hyper-Beta-aminoisobutyric aciduria" RELATED [OMIM:210100]
xref: MEDGEN:347169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565904 {source="MONDO:equivalentTo"}
xref: OMIM:210100 {source="MONDO:equivalentTo"}
xref: UMLS:C1859518 {source="MEDGEN:347169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565904/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14412 {source="MONDO:mim2gene_medgen"} ! AGXT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008861
name: 3-methylcrotonyl-CoA carboxylase 1 deficiency
alt_id: MONDO:0022326
def: "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:5665", source="MONDO:GARD"}
subset: rare
synonym: "3 Alpha methylcrotonylglycinuria 1" RELATED [GARD:0005665]
synonym: "3 alpha methylcrotonylglycinuria 1" RELATED [MESH:C535308]
synonym: "3 Methylcrotonyl-CoA carboxylase 1 deficiency" RELATED [GARD:0005665]
synonym: "3 Methylcrotonyl-CoA carboxylase deficiency" RELATED [GARD:0005665, MESH:C535308]
synonym: "3 methylcrotonylglycinuria" RELATED [GARD:0005665, MESH:C535308]
synonym: "3-MCC deficiency" RELATED [MESH:C535308]
synonym: "3-METHYLCROTONYL-CoA carboxylase 1 deficiency" RELATED [OMIM:210200]
synonym: "3-Methylcrotonyl-Coa carboxylase 1 deficiency" EXACT [MONDO:Lexical, OMIM:210200]
synonym: "3-methylcrotonyl-CoA carboxylase 1 deficiency" EXACT CLINGEN_LABEL [MESH:C535308]
synonym: "3-Methylcrotonyl-Coa carboxylase deficiency" RELATED [MESH:C535308]
synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1" EXACT [MONDO:design_pattern]
synonym: "3-Methylcrotonyl-Coenzyme A carboxylase deficiency" RELATED [MESH:C535308]
synonym: "3-methylcrotonylglycinuria" RELATED [MESH:C535308]
synonym: "3-methylcrotonylglycinuria 1" RELATED [OMIM:210200]
synonym: "3-methylcrotonylglycinuria I" RELATED [MESH:C535308]
synonym: "Bmcc deficiency" RELATED [MESH:C535308]
synonym: "deficiency of methylcrotonoyl-Coa carboxylase" RELATED [MESH:C535308]
synonym: "MCC 1 deficiency" RELATED [GARD:0005665]
synonym: "MCC deficiency" RELATED [MESH:C535308]
synonym: "MCC1 deficiency" RELATED [MESH:C535308]
synonym: "Mcc1 deficiency" RELATED [OMIM:210200]
synonym: "MCC1D" RELATED ABBREVIATION [MESH:C535308, MONDO:Lexical, OMIM:210200]
synonym: "MCCC1 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCCD type 1" RELATED [MESH:C535308]
synonym: "Mccd type 1" RELATED [OMIM:210200]
synonym: "methylcrotonoyl-CoA carboxylase 1 deficiency" RELATED [MESH:C535308]
synonym: "Methylcrotonyl-Coa carboxylase deficiency" RELATED [MESH:C535308]
synonym: "methylcrotonylglycinuria type 1" RELATED [OMIM:210200]
synonym: "methylcrotonylglycinuria type I" RELATED [MESH:C535308]
xref: DOID:0080579 {source="MONDO:equivalentTo"}
xref: GARD:5665 {source="MONDO:GARD"}
xref: MEDGEN:78691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535308 {source="MONDO:equivalentTo"}
xref: OMIM:210200 {source="GARD:0005665", source="MEDIC:C535308", source="MONDO:equivalentTo"}
xref: Orphanet:6 {source="GARD:0005665", source="OMIM:210200"}
xref: UMLS:C0268600 {source="MONDO:equivalentTo", source="MEDGEN:78691", source="MONDO:MEDGEN"}
is_a: MONDO:0004739 {source="MESH:C535308"} ! urea cycle disorder
is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210200", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency
is_a: MONDO:0019052 {source="MESH:C535308/inferred"} ! inborn errors of metabolism
intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6936 ! MCCC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6936 {source="MONDO:mim2gene_medgen"} ! MCCC1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency" xsd:anyURI {source="GARD:0005665"}

[Term]
id: MONDO:0008862
name: 3-methylcrotonyl-CoA carboxylase 2 deficiency
def: "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9151", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3 alpha methylcrotonyl-CoA carboxylase 2 deficiency" RELATED [GARD:0009151]
synonym: "3 alpha methylcrotonylglycinuria 2" RELATED [GARD:0009151]
synonym: "3-METHYLCROTONYL-CoA carboxylase 2 deficiency" RELATED [OMIM:210210]
synonym: "3-Methylcrotonyl-CoA carboxylase 2 deficiency" EXACT [MONDO:Lexical, OMIM:210210]
synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2" EXACT [MONDO:design_pattern]
synonym: "3-methylcrotonylglycinuria 2" RELATED [OMIM:210210]
synonym: "MCC 2 deficiency" RELATED [GARD:0009151]
synonym: "MCC2 deficiency" RELATED [OMIM:210210]
synonym: "MCC2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210210]
synonym: "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "methylcrotonylglycinuria type 2" RELATED [GARD:0009151]
synonym: "methylcrotonylglycinuria, type 2" RELATED [OMIM:210210]
xref: DOID:0080580 {source="MONDO:equivalentTo"}
xref: GARD:9151 {source="MONDO:GARD"}
xref: MEDGEN:347898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535309 {source="MONDO:equivalentTo"}
xref: OMIM:210210 {source="MONDO:equivalentTo"}
xref: Orphanet:6 {source="OMIM:210210"}
xref: UMLS:C1859499 {source="MONDO:equivalentTo", source="MEDGEN:347898", source="MONDO:MEDGEN"}
is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210210", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency
intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6937 ! MCCC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6937 {source="MONDO:mim2gene_medgen"} ! MCCC2

[Term]
id: MONDO:0008863
name: sitosterolemia
def: "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." [Orphanet:2882]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1911"}
subset: ordo_disorder {source="Orphanet:2882"}
subset: orphanet_rare {source="Orphanet:2882"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrothrombocytopenia/stomatocytosis, Mediterranean" RELATED [OMIM:210250]
synonym: "phytosterolemia" EXACT [DOID:0090019, OMIM:210250, Orphanet:2882]
synonym: "plant sterol storage disease" RELATED [GARD:0007653]
synonym: "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body" RELATED [GARD:0007653]
synonym: "sitosterolemia" EXACT CLINGEN_LABEL [OMIM:210250]
synonym: "STSL" RELATED ABBREVIATION [OMIM:210250]
xref: DOID:0090019 {source="MONDO:equivalentTo"}
xref: GARD:7653 {source="MONDO:GARD"}
xref: ICD10CM:E78.0 {source="Orphanet:2882/attributed", source="Orphanet:2882/ntbt", source="Orphanet:2882", source="DOID:0090019"}
xref: MedDRA:10063985 {source="Orphanet:2882", source="Orphanet:2882/e"}
xref: MEDGEN:87466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537345 {source="Orphanet:2882", source="MONDO:equivalentTo", source="Orphanet:2882/e", source="DOID:0090019"}
xref: NANDO:1200853 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125694 {source="MONDO:equivalentTo"}
xref: NORD:1911 {source="MONDO:NORD"}
xref: OMIMPS:210250 {source="MONDO:equivalentTo"}
xref: OMIMPS:215250 {source="MONDO:equivalentObsolete"}
xref: Orphanet:101022 {source="OMIM:210250", source="MONDO:equivalentObsolete"}
xref: Orphanet:2882 {source="OMIM:210250", source="MONDO:equivalentTo", source="DOID:0090019"}
xref: SCTID:238104009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87466"}
is_a: MONDO:0015905 {source="Orphanet:2882"} ! syndromic dyslipidemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:210250", source="OMIMPS:215250"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia" xsd:anyURI {source="GARD:0007653"}

[Term]
id: MONDO:0008864
name: Biemond syndrome type 2
def: "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997." [Orphanet:141333]
comment: Editor note: see also type 1, e.g. GARD:0000881
subset: gard_rare {source="GARD:882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141333"}
subset: orphanet_rare {source="Orphanet:141333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Biemond syndrome 2" RELATED [GARD:0000882]
synonym: "BIEMOND syndrome II" RELATED [OMIM:210350]
synonym: "Biemond syndrome type 2" EXACT [MONDORULE:1, OMIM:210350]
synonym: "BS2" RELATED ABBREVIATION [GARD:0000882]
synonym: "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome" EXACT [Orphanet:141333]
synonym: "iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly" RELATED [GARD:0000882]
synonym: "iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly" RELATED DEPRECATED [GARD:0000882]
xref: GARD:882 {source="MONDO:GARD"}
xref: MEDGEN:347159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565902 {source="MONDO:equivalentTo"}
xref: OMIM:210350 {source="GARD:0000882", source="MONDO:equivalentTo", source="Orphanet:141333", source="Orphanet:141333/e"}
xref: Orphanet:141333 {source="OMIM:210350", source="MONDO:equivalentTo"}
xref: SCTID:717887003 {source="MONDO:equivalentTo"}
xref: UMLS:C1859487 {source="MEDGEN:347159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:141333"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:141333", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2" xsd:anyURI {source="GARD:0000882"}

[Term]
id: MONDO:0008865
name: Bietti crystalline corneoretinal dystrophy
def: "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." [Orphanet:41751]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:41751"}
subset: orphanet_rare {source="Orphanet:41751"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:210370, Orphanet:41751]
synonym: "Bietti crystalline corneoretinal dystrophy" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:210370, Orphanet:41751]
synonym: "Bietti crystalline dystrophy" RELATED [OMIM:210370]
synonym: "Bietti crystalline retinopathy" EXACT [Orphanet:41751]
synonym: "Bietti tapetoretinal Degeneration with marginal corneal dystrophy" RELATED [OMIM:210370]
synonym: "Bietti's crystalline dystrophy" EXACT [DOID:0050664]
xref: DOID:0050664 {source="MONDO:equivalentTo"}
xref: GARD:10050 {source="MONDO:GARD"}
xref: ICD10CM:H15.5 {source="Orphanet:41751/attributed", source="Orphanet:41751/ntbt", source="Orphanet:41751"}
xref: MEDGEN:347895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535440 {source="Orphanet:41751", source="MONDO:equivalentTo", source="Orphanet:41751/e"}
xref: NCIT:C179299 {source="MONDO:equivalentTo"}
xref: OMIM:210370 {source="Orphanet:41751", source="DOID:0050664", source="MONDO:equivalentTo", source="Orphanet:41751/e"}
xref: Orphanet:41751 {source="OMIM:210370", source="MONDO:equivalentTo"}
xref: SCTID:312927001 {source="MONDO:equivalentTo"}
xref: UMLS:C1859486 {source="MEDGEN:347895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="DOID:0050664", source="MONDO:Redundant", source="MONDO:indirect"} ! retinal degeneration
is_a: MONDO:0016420 {source="Orphanet:41751"} ! familial flecked retinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23198 {source="MONDO:mim2gene_medgen"} ! CYP4V2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy" xsd:anyURI {source="GARD:0010050"}

[Term]
id: MONDO:0008866
name: bifid nose, autosomal recessive
def: "Autosomal recessive form of bifid nose." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:15142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive bifid nose" EXACT [MONDO:design_pattern]
synonym: "bifid nose, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:210400]
synonym: "median fissure of Nose" RELATED [OMIM:210400]
synonym: "Nose, Median cleft of" RELATED [OMIM:210400]
xref: GARD:15142 {source="MONDO:GARD"}
xref: MEDGEN:854359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:210400 {source="MONDO:equivalentTo"}
xref: Orphanet:2695 {source="OMIM:210400"}
xref: UMLS:C3887497 {source="MEDGEN:854359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000110 {source="DC-OMIM:210400", source="MONDO:Entailed", source="MONDO:Redundant"} ! bifid nose
intersection_of: MONDO:0000110 ! bifid nose
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0008867
name: biliary atresia
def: "A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occurring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool." [Orphanet:30391]
subset: gard_rare {source="GARD:12010", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1114"}
subset: ordo_disorder {source="Orphanet:30391"}
subset: ordo_morphological_anomaly {source="Orphanet:30391"}
subset: orphanet_rare {source="Orphanet:30391"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atresia of bile duct" EXACT [DOID:13608]
synonym: "atresia of bile ducts" EXACT [Orphanet:30391]
synonym: "biliary atresia, congenital" EXACT [DOID:13608, ICD9CM:751.61]
synonym: "congenital biliary atresia" EXACT [NCIT:C34421]
synonym: "isolated atresia of bile ducts" EXACT [Orphanet:30391]
synonym: "isolated biliary atresia" RELATED [Orphanet:30391]
synonym: "non-syndromic biliary atresia" EXACT [Orphanet:30391]
xref: DOID:13608 {source="MONDO:equivalentTo"}
xref: GARD:12010 {source="MONDO:GARD"}
xref: ICD10CM:Q44.2 {source="Orphanet:30391/e", source="DOID:13608", source="Orphanet:30391"}
xref: icd11.foundation:645741117 {source="MONDO:equivalentTo", source="Orphanet:30391"}
xref: ICD9:751.61 {source="DOID:13608", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10003650 {source="Orphanet:30391/e", source="Orphanet:30391"}
xref: MEDGEN:14117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001656 {source="Orphanet:30391/e", source="DOID:13608", source="MONDO:equivalentTo", source="Orphanet:30391"}
xref: NANDO:1200913 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200930 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34421 {source="DOID:13608", source="MONDO:equivalentTo"}
xref: NORD:1114 {source="MONDO:NORD"}
xref: Orphanet:30391 {source="DOID:13608", source="MONDO:equivalentTo", source="OMIM:210500"}
xref: SCTID:204779004 {source="DOID:13608"}
xref: SCTID:204783004 {source="DOID:13608"}
xref: SCTID:77480004 {source="DOID:13608", source="MONDO:equivalentTo"}
xref: UMLS:C0005411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14117"}
is_a: MONDO:0001751 {source="DOID:13608"} ! cholestasis
is_a: MONDO:0004868 {source="Orphanet:30391"} ! biliary tract disorder
is_a: MONDO:0006322 {source="NCIT:C34421"} ! non-neoplastic bile duct disorder
relationship: disease_has_feature HP:0005912 {source="MONDO:0028737", source="https://github.com/monarch-initiative/mondo/issues/2717", source="https://orcid.org/0000-0001-5208-3432"} ! Biliary atresia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia" xsd:anyURI {source="GARD:0012010"}

[Term]
id: MONDO:0008868
name: biliary malformation with renal tubular insufficiency
synonym: "biliary malformation with renal tubular insufficiency" EXACT [OMIM:210550]
synonym: "cholestatic jaundice and renal tubular insufficiency" RELATED [OMIM:210550]
xref: MEDGEN:98009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537726 {source="MONDO:equivalentTo"}
xref: OMIM:210550 {source="MONDO:equivalentTo"}
xref: SCTID:235914003 {source="MONDO:equivalentTo"}
xref: UMLS:C0400972 {source="MEDGEN:98009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008869
name: Seckel syndrome 1
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATR Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Bird-headed dwarfism" RELATED [OMIM:210600]
synonym: "microcephalic primordial dwarfism 1" RELATED [OMIM:210600]
synonym: "microcephalic primordial dwarfism I" EXACT [DOID:0070007]
synonym: "nanocephalic dwarfism" RELATED [OMIM:210600]
synonym: "Sckl" RELATED [OMIM:210600]
synonym: "SCKL1" EXACT ABBREVIATION [DOID:0070007, MONDO:Lexical, OMIM:210600]
synonym: "Seckel syndrome 1" EXACT [MONDO:Lexical, OMIM:210600]
synonym: "Seckel syndrome 3" EXACT [OMIM:210600]
synonym: "Seckel syndrome caused by mutation in ATR" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 1" EXACT [MONDORULE:1, OMIM:210600]
synonym: "Seckel-type dwarfism" RELATED [OMIM:210600]
xref: DOID:0070007 {source="MONDO:equivalentTo"}
xref: GARD:15143 {source="MONDO:GARD"}
xref: MEDGEN:1637056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:210600 {source="MONDO:equivalentTo", source="DOID:0070007"}
xref: Orphanet:808 {source="OMIM:210600"}
xref: UMLS:C4551474 {source="MEDGEN:1637056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019342 {source="DC-OMIM:210600", source="DOID:0070007", source="MONDO:Redundant", source="OMIM:210600"} ! Seckel syndrome
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/882 ! ATR
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:210600"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/882 {source="MONDO:mim2gene_medgen"} ! ATR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008870
name: bird headed-dwarfism, Montreal type
def: "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." [Orphanet:2617]
subset: gard_rare {source="GARD:895", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2617"}
subset: ordo_malformation_syndrome {source="Orphanet:2617"}
subset: orphanet_rare {source="Orphanet:2617"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bird-headed dwarfism with features of premature senility" RELATED [GARD:0000895]
synonym: "Bird-headed dwarfism, Montreal type" RELATED [OMIM:210700]
synonym: "microcephalic primordial dwarfism, Montreal type" RELATED [OMIM:210700]
synonym: "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms" RELATED [GARD:0000895]
synonym: "premature senility, premature greying and loss of scalp hair and wrinkled skin of the palms" RELATED OMO:0003005 []
xref: GARD:895 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2617/attributed", source="Orphanet:2617/ntbt", source="Orphanet:2617"}
xref: MEDGEN:347890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535448 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"}
xref: OMIM:210700 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"}
xref: Orphanet:2617 {source="MONDO:equivalentTo", source="OMIM:210700"}
xref: UMLS:C1859468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347890"}
is_a: MONDO:0015159 {source="Orphanet:2617"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2617", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008871
name: microcephalic osteodysplastic primordial dwarfism type I
def: "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." [DOID:0060608, OMIM:210710, PMID:22302400]
subset: gard_rare {source="GARD:15144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "brachymelic primordial dwarfism" EXACT [DOID:0060608, OMIM:210710]
synonym: "cephaloskeletal dysplasia" EXACT [DOID:0060608, OMIM:210710]
synonym: "low-birth-weight dwarfism with skeletal dysplasia" EXACT [DOID:0060608, OMIM:210710]
synonym: "microcephalic osteodysplastic primordial dwarfism, type 1" EXACT [OMIM:210710]
synonym: "microcephalic osteodysplastic primordial dwarfism, type I" EXACT [MONDO:Lexical, OMIM:210710]
synonym: "MOPD 1" EXACT [OMIM:210710]
synonym: "MOPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:210710]
synonym: "osteodysplastic primordial dwarfism type I" EXACT [DOID:0060608]
synonym: "osteodysplastic primordial dwarfism, type 1" EXACT [OMIM:210710]
synonym: "Taybi-Linder syndrome" EXACT [DOID:0060608, OMIM:210710]
xref: DOID:0060608 {source="MONDO:equivalentTo"}
xref: GARD:15144 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="DOID:0060608"}
xref: MEDGEN:347149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:210710 {source="MONDO:equivalentTo", source="DOID:0060608"}
xref: Orphanet:2636 {source="OMIM:210710", source="DOID:0060608"}
xref: SCTID:254102008 {source="MONDO:equivalentTo"}
xref: UMLS:C1859452 {source="MEDGEN:347149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000060 {source="DC-OMIM:210710", source="MONDO:Entailed", source="MONDO:Redundant"} ! microcephalic osteodysplastic primordial dwarfism
is_a: MONDO:0005516 {source="DOID:0060608"} ! osteochondrodysplasia
is_a: MONDO:0016994 {source="Orphanet:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types I and III
is_a: MONDO:0100558 {source="https://clinicalgenome.org/affiliation/40065/"} ! RNU4ATAC spectrum disorder
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0000060 ! microcephalic osteodysplastic primordial dwarfism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34016 ! RNU4ATAC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34016 {source="MONDO:mim2gene_medgen"} ! RNU4ATAC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7497" xsd:anyURI

[Term]
id: MONDO:0008872
name: microcephalic osteodysplastic primordial dwarfism type II
def: "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." [https://orcid.org/0000-0001-5208-3432, Orphanet:2637]
subset: gard_rare {source="GARD:9844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2637"}
subset: ordo_malformation_syndrome {source="Orphanet:2637"}
subset: orphanet_rare {source="Orphanet:2637"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609, Orphanet:2637]
synonym: "microcephalic osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844]
synonym: "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities" RELATED [GARD:0009844]
synonym: "microcephalic osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720]
synonym: "microcephalic osteodysplastic primordial dwarfism, type II" RELATED [MONDO:Lexical, OMIM:210720]
synonym: "Mopd 2" RELATED [OMIM:210720]
synonym: "MOPD II" RELATED [GARD:0009844]
synonym: "MOPD type II" EXACT [Orphanet:2637]
synonym: "MOPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210720]
synonym: "osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844]
synonym: "osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609]
synonym: "osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720]
xref: DOID:0060609 {source="MONDO:equivalentTo"}
xref: GARD:9844 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="DOID:0060609", source="Orphanet:2637/attributed", source="Orphanet:2637/ntbt", source="Orphanet:2637"}
xref: MEDGEN:96587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565898 {source="MONDO:equivalentTo"}
xref: OMIM:210720 {source="DOID:0060609", source="Orphanet:2637/e", source="MONDO:equivalentTo", source="Orphanet:2637"}
xref: Orphanet:2637 {source="DOID:0060609", source="MONDO:equivalentTo", source="OMIM:210720"}
xref: SCTID:254103003 {source="MONDO:equivalentTo"}
xref: UMLS:C0432246 {source="MEDGEN:96587", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000060 {source="DC-OMIM:210720"} ! microcephalic osteodysplastic primordial dwarfism
is_a: MONDO:0005516 {source="DOID:0060609", source="MESH:C565898"} ! osteochondrodysplasia
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16068 {source="MONDO:mim2gene_medgen"} ! PCNT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2" xsd:anyURI {source="GARD:0009844"}

[Term]
id: MONDO:0008873
name: microcephalic osteodysplastic primordial dwarfism, type 3
subset: gard_rare {source="GARD:15145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type" RELATED [OMIM:210730]
synonym: "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type" RELATED [OMIM:210730]
synonym: "microcephalic osteodysplastic primordial dwarfism, type III" RELATED [OMIM:210730]
synonym: "Mopd 3" RELATED [OMIM:210730]
synonym: "Mopd, Caroline Crachami type" RELATED [OMIM:210730]
synonym: "Mopd, Sicilian fairy type" RELATED [OMIM:210730]
synonym: "osteodysplastic primordial dwarfism, type 3" RELATED [OMIM:210730]
xref: GARD:15145 {source="MONDO:GARD"}
xref: MEDGEN:349167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537320 {source="MONDO:equivalentTo"}
xref: OMIM:210730 {source="MONDO:equivalentTo"}
xref: Orphanet:2636 {source="OMIM:210730"}
xref: UMLS:C1859439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349167"}
is_a: MONDO:0000060 {source="DC-OMIM:210730"} ! microcephalic osteodysplastic primordial dwarfism
is_a: MONDO:0016994 {source="Orphanet:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types I and III

[Term]
id: MONDO:0008874
name: Bangstad syndrome
def: "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." [Orphanet:1227]
subset: gard_rare {source="GARD:812", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1227"}
subset: ordo_malformation_syndrome {source="Orphanet:1227"}
subset: orphanet_rare {source="Orphanet:1227"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia-diabetes-goiter-gonadal insufficiency syndrome" EXACT [Orphanet:1227]
synonym: "Bangstad syndrome" EXACT [OMIM:210740]
synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency" RELATED [GARD:0000812]
synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" RELATED [OMIM:210740]
synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency" RELATED OMO:0003005 []
xref: GARD:812 {source="MONDO:GARD"}
xref: ICD10CM:E31.8 {source="Orphanet:1227", source="Orphanet:1227/attributed", source="Orphanet:1227/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537902 {source="MONDO:equivalentTo", source="Orphanet:1227", source="Orphanet:1227/e"}
xref: OMIM:210740 {source="MONDO:equivalentTo", source="Orphanet:1227", source="Orphanet:1227/e"}
xref: Orphanet:1227 {source="MONDO:equivalentTo", source="OMIM:210740"}
xref: SCTID:237614004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90978"}
is_a: MONDO:0005151 {source="Orphanet:1227", source="Orphanet:1227/inferred"} ! endocrine system disorder
is_a: MONDO:0015126 {source="Orphanet:1227"} ! polyendocrinopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome" xsd:anyURI {source="GARD:0000812"}

[Term]
id: MONDO:0008875
name: blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
def: "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." [Orphanet:2057]
subset: gard_rare {source="GARD:905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2057"}
subset: ordo_malformation_syndrome {source="Orphanet:2057"}
subset: orphanet_rare {source="Orphanet:2057"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis - ptosis - esotropia - syndactyly - short stature" RELATED [GARD:0000905]
synonym: "blepharophimosis with ptosis, syndactyly, and short stature" RELATED [OMIM:210745]
synonym: "Frydman Cohen Karmon syndrome" RELATED [GARD:0000905]
synonym: "Frydman-Cohen-Karmon syndrome" EXACT [Orphanet:2057]
xref: GARD:905 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2057/attributed", source="Orphanet:2057/ntbt", source="Orphanet:2057"}
xref: MEDGEN:347880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536235 {source="MONDO:equivalentTo"}
xref: OMIM:210745 {source="Orphanet:2057", source="MONDO:equivalentTo", source="Orphanet:2057/e"}
xref: Orphanet:2057 {source="MONDO:equivalentTo", source="OMIM:210745"}
xref: SCTID:717914000 {source="MONDO:equivalentTo"}
xref: UMLS:C1859432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347880"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2057"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0008876
name: Bloom syndrome
def: "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." [Orphanet:125]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:915", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:863"}
subset: ordo_disorder {source="Orphanet:125"}
subset: orphanet_rare {source="Orphanet:125"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BLM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210900]
synonym: "Bloom syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:210900]
synonym: "Bloom-Torre-Machacek syndrome" EXACT [DOID:2717]
synonym: "BLS" RELATED ABBREVIATION [GARD:0000915]
synonym: "BS" RELATED ABBREVIATION [OMIM:210900]
synonym: "BSyn" EXACT [Orphanet:125]
synonym: "congenital telangiectatic erythema" RELATED [GARD:0000915]
synonym: "congenital telangiectatic erythema syndrome" EXACT [DOID:2717, NCIT:C2903]
synonym: "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability" RELATED [GARD:0000915]
synonym: "MGRISCE1" RELATED ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" RELATED [OMIM:210900]
xref: DOID:2717 {source="MONDO:equivalentTo"}
xref: GARD:915 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:125", source="Orphanet:125/index", source="Orphanet:125/ntbt", source="MONDO:directSiblingOf"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:2685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001816 {source="Orphanet:125", source="MONDO:equivalentTo", source="Orphanet:125/e", source="DOID:2717"}
xref: NANDO:1200333 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200707 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2903 {source="MONDO:equivalentTo", source="DOID:2717"}
xref: NORD:863 {source="MONDO:NORD"}
xref: OMIM:210900 {source="Orphanet:125", source="MONDO:equivalentTo", source="Orphanet:125/e", source="DOID:2717"}
xref: Orphanet:125 {source="MONDO:equivalentTo", source="OMIM:210900", source="DOID:2717"}
xref: SCTID:4434006 {source="MONDO:equivalentTo", source="DOID:2717"}
xref: UMLS:C0005859 {source="MONDO:equivalentTo", source="MEDGEN:2685", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0006025 {source="DOID:2717", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015951 {source="Orphanet:125", source="PMID:27745641"} ! hereditary photodermatosis
is_a: MONDO:0019040 {source="https://orcid.org/0000-0002-5002-8648"} ! chromosomal disorder
is_a: MONDO:0020629 {source="OMIM:210900"} ! microcephaly, growth restriction and increased sister chromatid exchange
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:125", source="Orphanet:125/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:210900", source="Orphanet:125"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1058 {source="MONDO:mim2gene_medgen"} ! BLM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome" xsd:anyURI {source="GARD:0000915"}

[Term]
id: MONDO:0008877
name: blue diaper syndrome
def: "Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria." [Orphanet:94086]
subset: gard_rare {source="GARD:5939", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:864"}
subset: ordo_disorder {source="Orphanet:94086"}
subset: orphanet_rare {source="Orphanet:94086"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blue diaper syndrome" EXACT [OMIM:211000]
synonym: "Drummond syndrome" EXACT [Orphanet:94086]
synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT [Orphanet:94086]
synonym: "hypercalcemia, familial, with nephrocalcinosis and indicanuria" RELATED [OMIM:211000]
xref: GARD:5939 {source="MONDO:GARD"}
xref: ICD10CM:E70.8 {source="Orphanet:94086/ntbt", source="Orphanet:94086/inclusion", source="Orphanet:94086"}
xref: MEDGEN:75685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536239 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"}
xref: NORD:864 {source="MONDO:NORD"}
xref: OMIM:211000 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"}
xref: Orphanet:94086 {source="OMIM:211000", source="MONDO:equivalentTo"}
xref: SCTID:59531002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75685"}
is_a: MONDO:0019216 {source="Orphanet:94086", source="PMID:33340416"} ! inborn disorder of amino acid transport
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome" xsd:anyURI {source="GARD:0005939"}

[Term]
id: MONDO:0008878
name: bone dysplasia, lethal Holmgren type
def: "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." [Orphanet:1842]
subset: gard_rare {source="GARD:922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1842"}
subset: ordo_malformation_syndrome {source="Orphanet:1842"}
subset: orphanet_rare {source="Orphanet:1842"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type" EXACT [Orphanet:1842]
synonym: "bone dysplasia lethal Holmgren type" RELATED [GARD:0000922]
synonym: "bone dysplasia, lethal, Holmgren type" RELATED [OMIM:211120]
xref: GARD:922 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:1842", source="Orphanet:1842/attributed", source="Orphanet:1842/ntbt"}
xref: MEDGEN:347872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565896 {source="MONDO:equivalentTo"}
xref: OMIM:211120 {source="MONDO:equivalentTo", source="Orphanet:1842", source="Orphanet:1842/e"}
xref: Orphanet:1842 {source="OMIM:211120", source="MONDO:equivalentTo"}
xref: SCTID:732249002 {source="MONDO:equivalentTo"}
xref: UMLS:C1859407 {source="MEDGEN:347872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type" xsd:anyURI {source="GARD:0000922"}

[Term]
id: MONDO:0008879
name: Bowen-Conradi syndrome
def: "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." [Orphanet:1270]
subset: gard_rare {source="GARD:5950", source="MONDO:GARD"}
subset: nord_rare {source="NORD:869", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1270"}
subset: ordo_malformation_syndrome {source="Orphanet:1270"}
subset: orphanet_rare {source="Orphanet:1270"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bowen Hutterite Syndrome" EXACT [NORD:869]
synonym: "Bowen Hutterite syndrome" EXACT [OMIM:211180]
synonym: "Bowen Hutterite syndrome (formerly)" EXACT [GARD:0005950]
synonym: "Bowen Hutterite syndrome, formerly" EXACT [OMIM:211180]
synonym: "Bowen syndrome, Hutterite type" EXACT [Orphanet:1270]
synonym: "Bowen-Conradi Hutterite syndrome" EXACT [GARD:0005950]
synonym: "Bowen-Conradi syndrome" EXACT [MONDO:Lexical, OMIM:211180]
synonym: "BWCNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:211180]
xref: DOID:0050684 {source="MONDO:equivalentTo"}
xref: GARD:5950 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1270/attributed", source="Orphanet:1270/ntbt", source="Orphanet:1270"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:349160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537081 {source="Orphanet:1270/e", source="MONDO:equivalentTo", source="Orphanet:1270"}
xref: NORD:869 {source="MONDO:NORD"}
xref: OMIM:211180 {source="DOID:0050684", source="Orphanet:1270/e", source="MONDO:equivalentTo", source="Orphanet:1270"}
xref: Orphanet:1270 {source="MONDO:equivalentTo", source="OMIM:211180"}
xref: SCTID:711153001 {source="MONDO:equivalentTo"}
xref: UMLS:C1859405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349160"}
is_a: MONDO:0006025 {source="DOID:0050684", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:1270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1270", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:211180", source="Orphanet:1270"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16912 {source="MONDO:mim2gene_medgen"} ! EMG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome" xsd:anyURI {source="GARD:0005950"}

[Term]
id: MONDO:0008880
name: Bowen syndrome of multiple malformations
synonym: "Bowen syndrome" EXACT [Orphanet:1271]
synonym: "Bowen syndrome of multiple malformations" EXACT [OMIM:211200]
xref: MEDGEN:349159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538164 {source="MONDO:equivalentTo"}
xref: OMIM:211200 {source="MONDO:equivalentTo"}
xref: Orphanet:1271 {source="MONDO:equivalentObsolete", source="OMIM:211200"}
xref: UMLS:C1859404 {source="MEDGEN:349159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008881
name: kyphomelic dysplasia
def: "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome." [https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia]
subset: gard_rare {source="GARD:10149", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1801"}
subset: ordo_malformation_syndrome {source="Orphanet:1801"}
subset: orphanet_rare {source="Orphanet:1801"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bowing, congenital, with short bones" RELATED [OMIM:211350]
synonym: "congenital bowing with short bones" RELATED [GARD:0010149]
synonym: "kyphomelic dysplasia" EXACT [OMIM:211350]
xref: GARD:10149 {source="MONDO:GARD"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538128 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"}
xref: OMIM:211350 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"}
xref: Orphanet:1801 {source="OMIM:211350", source="MONDO:equivalentTo"}
xref: SCTID:254096001 {source="MONDO:equivalentTo"}
xref: UMLS:C0432239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140930"}
is_a: MONDO:0019698 {source="Orphanet:1801", source="PMID:31633310"} ! bent bone dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia" xsd:anyURI {source="GARD:0010149"}

[Term]
id: MONDO:0008882
name: congenital bowing of long bones
def: "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." [Orphanet:2292]
subset: gard_rare {source="GARD:953", source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:2292"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bowing of long bones congenital" RELATED [GARD:0000953]
synonym: "bowing of long bones, asymmetric and symmetric" RELATED [OMIM:211355]
xref: GARD:953 {source="MONDO:GARD"}
xref: ICD10CM:Q68.3 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"}
xref: ICD10CM:Q68.4 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"}
xref: ICD10CM:Q68.5 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"}
xref: ICD10CM:Q68.8 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"}
xref: MedDRA:10054064 {source="Orphanet:2292/e", source="Orphanet:2292"}
xref: MEDGEN:395251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:211355 {source="Orphanet:2292/e", source="MONDO:equivalentTo", source="Orphanet:2292"}
xref: Orphanet:2292 {source="MONDO:equivalentTo", source="OMIM:211355"}
xref: SCTID:716098006 {source="MONDO:equivalentTo"}
xref: UMLS:C1859394 {source="MEDGEN:395251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017427 {source="Orphanet:2292"} ! congenital deformities of limbs
is_a: MONDO:0019698 {source="Orphanet:2292"} ! bent bone dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/953/bowing-of-long-bones-congenital" xsd:anyURI {source="GARD:0000953"}

[Term]
id: MONDO:0008883
name: brachydactyly, type A2, with microcephaly
synonym: "brachydactyly, type A2, with microcephaly" EXACT [OMIM:211369]
xref: MEDGEN:395250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565894 {source="MONDO:equivalentTo"}
xref: OMIM:211369 {source="MONDO:equivalentTo"}
xref: UMLS:C1859393 {source="MEDGEN:395250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008884
name: oculoosteocutaneous syndrome
def: "A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." [Orphanet:2713]
subset: gard_rare {source="GARD:992", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2713"}
subset: ordo_malformation_syndrome {source="Orphanet:2713"}
subset: orphanet_rare {source="Orphanet:2713"}
subset: rare
synonym: "anodontia-hypotrichosis syndrome" EXACT [OMIM:211370]
synonym: "brachymetapody anodontia hypotrichosis albinoidism" EXACT [MONDO:0022605]
synonym: "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM" EXACT [OMIM:211370]
synonym: "oculoosteocutaneous syndrome" EXACT [OMIM:211370]
xref: GARD:992 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2713", source="Orphanet:2713/attributed", source="Orphanet:2713/ntbt"}
xref: MEDGEN:347867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565893 {source="MONDO:equivalentTo"}
xref: OMIM:211370 {source="MONDO:equivalentTo", source="Orphanet:2713", source="Orphanet:2713/e"}
xref: Orphanet:2713 {source="OMIM:211370", source="MONDO:equivalentTo"}
xref: SCTID:722061006 {source="MONDO:equivalentTo"}
xref: UMLS:C1859385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347867"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019287 {source="Orphanet:2713"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3687" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism" xsd:anyURI {source="GARD:0000992"}

[Term]
id: MONDO:0008885
name: Elsahy-Waters syndrome
def: "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." [Orphanet:1299]
subset: gard_rare {source="GARD:955", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1299"}
subset: ordo_malformation_syndrome {source="Orphanet:1299"}
subset: orphanet_rare {source="Orphanet:1299"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachioskeletogenital syndrome" EXACT [OMIM:211380]
synonym: "branchio-skeleto-genital syndrome" RELATED [GARD:0000955]
synonym: "BSG syndrome" EXACT [OMIM:211380, Orphanet:1299]
synonym: "ELSAHY-Waters syndrome" EXACT [OMIM:211380]
synonym: "Elsahy-Waters syndrome" EXACT [Orphanet:1299]
synonym: "ESWS" EXACT ABBREVIATION [OMIM:211380]
synonym: "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" EXACT [MONDO:0011324]
synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" EXACT [OMIM:603463]
synonym: "hypospadias-hypertelorism-coloboma and deafness syndrome" EXACT [Orphanet:157788]
xref: DOID:0080631 {source="MONDO:equivalentTo"}
xref: GARD:955 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1299", source="Orphanet:1299/attributed", source="Orphanet:1299/ntbt"}
xref: MEDGEN:923028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537084 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MESH:C566373 {source="MONDO:equivalentTo"}
xref: OMIM:211380 {source="Orphanet:1299", source="MONDO:equivalentTo", source="Orphanet:1299/e", source="MONDO:preferredExternal"}
xref: OMIM:603463 {source="MONDO:equivalentObsolete"}
xref: Orphanet:1299 {source="OMIM:211380", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:157788 {source="MONDO:equivalentObsolete", source="OMIM:603463"}
xref: SCTID:719097002 {source="MONDO:equivalentTo"}
xref: UMLS:C0809936 {source="MEDGEN:923028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="Orphanet:157788/inferred"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:1299"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1299", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0008886
name: Sabinas brittle hair syndrome
synonym: "brittle hair and mental Deficit" RELATED [OMIM:211390]
synonym: "brittle hair syndrome, Sabinas type" EXACT [Orphanet:3123]
synonym: "Sabinas brittle hair syndrome" EXACT [OMIM:211390]
synonym: "Sabinas syndrome" RELATED [GARD:0000313]
xref: DOID:0111874 {source="MONDO:equivalentTo"}
xref: MEDGEN:163238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536320 {source="MONDO:equivalentTo"}
xref: OMIM:211390 {source="MONDO:equivalentTo"}
xref: Orphanet:3123 {source="MONDO:equivalentObsolete", source="OMIM:211390"}
xref: UMLS:C0796271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163238"}
is_a: MONDO:0003847 {source="MESH:C536320/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/313/sabinas-brittle-hair-syndrome" xsd:anyURI {source="GARD:0000313"}

[Term]
id: MONDO:0008887
name: bronchiectasis with or without elevated sweat chloride 1
subset: gard_rare {source="GARD:18054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BESC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211400]
synonym: "bronchiectasis with or without elevated sweat chloride 1" EXACT [MONDO:Lexical, OMIM:211400]
synonym: "bronchiectasis with or without elevated sweat chloride 1, modifier of" EXACT [OMIM:211400, OMIM:genemap2]
synonym: "bronchiectasis with or without elevated sweat chloride type 1" EXACT [MONDORULE:1, OMIM:211400]
synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:211400]
xref: DOID:0080526 {source="MONDO:equivalentTo"}
xref: GARD:18054 {source="MONDO:GARD"}
xref: MEDGEN:440868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567618 {source="MONDO:equivalentTo"}
xref: OMIM:211400 {source="MONDO:equivalentTo"}
xref: Orphanet:60033 {source="OMIM:211400"}
xref: UMLS:C2749757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440868"}
is_a: MONDO:0004822 {source="MESH:C567618", source="MONDO:Redundant", source="OMIM:211400"} ! bronchiectasis
is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008888
name: Williams-Campbell syndrome
subset: gard_rare {source="GARD:21731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411501"}
subset: ordo_morphological_anomaly {source="Orphanet:411501"}
subset: orphanet_rare {source="Orphanet:411501"}
subset: rare
synonym: "BRONCHOMALACIA" RELATED ABBREVIATION [OMIM:211450]
synonym: "Williams-Campbell syndrome" EXACT [OMIM:211450]
xref: GARD:21731 {source="MONDO:GARD"}
xref: ICD10CM:Q33.4 {source="Orphanet:411501/ntbt", source="Orphanet:411501"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201040 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:211450 {source="MONDO:equivalentTo"}
xref: Orphanet:411501 {source="MONDO:equivalentTo"}
xref: SCTID:54203008 {source="MONDO:equivalentTo"}
xref: UMLS:C0340231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137939"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:411501", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0008889
name: thromboangiitis obliterans
def: "A rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco." [https://orcid.org/0000-0001-5208-3432, Orphanet:36258]
subset: gard_rare {source="GARD:5969", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:880"}
subset: ordo_disorder {source="Orphanet:36258"}
subset: orphanet_rare {source="Orphanet:36258"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BUERGER disease" RELATED [OMIM:211480]
synonym: "Buerger's Disease" EXACT [NORD:880]
synonym: "Buerger's disease" EXACT [DOID:12918, NCIT:C35070]
synonym: "inflammatory occlusive peripheral vascular disease" RELATED [GARD:0005969]
synonym: "occlusive peripheral vascular disease" RELATED [GARD:0005969]
synonym: "presenile gangrene" EXACT [DOID:12918]
synonym: "TAO" RELATED ABBREVIATION [GARD:0005969]
synonym: "thromboangiitis obliterans" EXACT [DOID:12918, OMIM:211480, Orphanet:36258]
synonym: "thromboangiitis obliterans [Buerger's disease]" EXACT [DOID:12918, ICD9CM:443.1]
xref: DOID:12918 {source="EFO:1001211", source="MONDO:equivalentTo"}
xref: EFO:1001211 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5969 {source="MONDO:GARD"}
xref: ICD10CM:I73.1 {source="EFO:1001211", source="Orphanet:36258/e", source="DOID:12918", source="Orphanet:36258"}
xref: icd11.foundation:1000683110 {source="MONDO:equivalentTo", source="Orphanet:36258"}
xref: ICD9:443.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12918"}
xref: MedDRA:10043540 {source="EFO:1001211"}
xref: MEDGEN:21531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013919 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"}
xref: NANDO:1200266 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35070 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"}
xref: NORD:880 {source="MONDO:NORD"}
xref: OMIM:211480 {source="EFO:1001211", source="Orphanet:36258/e", source="MONDO:equivalentTo", source="DOID:12918", source="Orphanet:36258"}
xref: Orphanet:36258 {source="OMIM:211480", source="MONDO:equivalentTo"}
xref: SCTID:155432001 {source="DOID:12918"}
xref: SCTID:195298008 {source="DOID:12918"}
xref: SCTID:195299000 {source="DOID:12918"}
xref: SCTID:195300008 {source="DOID:12918"}
xref: SCTID:52403007 {source="EFO:1001211", source="MONDO:equivalentTo", source="DOID:12918"}
xref: UMLS:C0040021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21531"}
is_a: MONDO:0005294 {source="DOID:12918", source="EFO:1001211", source="NCIT:C35070"} ! peripheral vascular disease
is_a: MONDO:0021166 {source="https://orcid.org/0000-0001-5208-3432"} ! inflammatory disease
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:36258", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0008890
name: progressive bulbar palsy
def: "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms." [https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy]
subset: gard_rare {source="GARD:10928", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bulbar palsy, progressive, of childhood" NARROW [OMIM:211500]
synonym: "Fazio-Londe disease" NARROW [OMIM:211500]
synonym: "progressive bulbar atrophy" RELATED [GARD:0010928]
xref: DOID:681 {source="EFO:0003783", source="MONDO:equivalentTo"}
xref: EFO:0003783 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10928 {source="MONDO:GARD"}
xref: ICD10CM:G12.22 {source="MONDO:equivalentTo", source="DOID:681"}
xref: ICD9:335.22 {source="EFO:0003783", source="DOID:681"}
xref: MEDGEN:18290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010244 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"}
xref: NCIT:C85026 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"}
xref: Orphanet:56965 {source="OMIM:211500"}
xref: SCTID:230547002 {source="DOID:681"}
xref: SCTID:54304004 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"}
xref: UMLS:C0030442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18290"}
is_a: MONDO:0002782 {source="NCIT:C85026"} ! cranial nerve palsy
is_a: MONDO:0006496 {source="EFO:0003783"} ! palsy
is_a: MONDO:0008891 {source="https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy"} ! riboflavin transporter deficiency
relationship: disease_has_location CL:0000100 {source="EFO:0000784"} ! motor neuron
relationship: disease_has_location UBERON:0002298 ! brainstem
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/127" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy" xsd:anyURI {source="GARD:0010928"}

[Term]
id: MONDO:0008891
name: riboflavin transporter deficiency
def: "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." [Orphanet:97229]
subset: gard_rare {source="GARD:9993", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1960"}
subset: ordo_disorder {source="Orphanet:97229"}
subset: ordo_malformation_syndrome {source="Orphanet:97229"}
subset: orphanet_rare {source="Orphanet:97229"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brown-Vialetto-van Laere syndrome" EXACT [Orphanet:97229]
synonym: "Brown-Vialetto-Van Laere syndrome 1" NARROW [MONDO:Lexical, OMIM:211530]
synonym: "BVVLS" RELATED ABBREVIATION [GARD:0009993]
synonym: "BVVLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211530]
synonym: "disorder of riboflavin transmembrane transporter activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "Fazio-Londe syndrome" EXACT [PMID:29473049]
synonym: "pontobulbar palsy and neurosensory deafness" RELATED [GARD:0009993]
synonym: "progressive bulbar palsy with sensorineural deafness" RELATED [GARD:0009993]
synonym: "riboflavin transmembrane transporter activity disease" EXACT [MONDO:design_pattern]
synonym: "sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [Orphanet:97229]
xref: DOID:0050694 {source="MONDO:equivalentTo"}
xref: GARD:9993 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:97229", source="Orphanet:97229/attributed", source="Orphanet:97229/ntbt"}
xref: MEDGEN:1634394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537111 {source="MONDO:equivalentTo", source="Orphanet:97229", source="Orphanet:97229/e"}
xref: NORD:1960 {source="MONDO:NORD"}
xref: OMIMPS:211530 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:97229 {source="MONDO:equivalentTo", source="OMIM:211530"}
xref: SCTID:699866005 {source="MONDO:equivalentTo"}
xref: UMLS:C4551777 {source="MEDGEN:1634394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020128 {source="https://orcid.org/0000-0001-5208-3432"} ! motor neuron disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0032217 ! riboflavin transmembrane transporter activity
relationship: disease_has_major_feature HP:0000407 {source="Orphanet:97229"} ! Sensorineural hearing impairment
relationship: disease_has_major_feature MONDO:0016113 ! bulbospinal muscular atrophy
relationship: excluded_subClassOf MONDO:0016114 {source="Orphanet:97229", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete bulbospinal muscular atrophy of childhood
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:97229", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:211530"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency" xsd:string

[Term]
id: MONDO:0008892
name: progressive familial intrahepatic cholestasis type 1
def: "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features." [Orphanet:79306]
subset: gard_rare {source="GARD:9802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Byler disease" EXACT [Orphanet:79306]
synonym: "Byler's disease" RELATED [GARD:0009802]
synonym: "cholestasis, fatal intrahepatic" RELATED [GARD:0009802]
synonym: "cholestasis, progressive familial intrahepatic 1" EXACT [OMIM:211600, OMIM:genemap2]
synonym: "cholestasis, progressive familial intrahepatic, 1" RELATED [MONDO:Lexical, OMIM:211600]
synonym: "cholestasis, progressive familial intrahepatic, type 1" EXACT [MONDORULE:1, OMIM:211600]
synonym: "FIC1 deficiency" EXACT [Orphanet:79306]
synonym: "PFIC1" EXACT ABBREVIATION [GARD:0009802, MONDO:Lexical, OMIM:211600, Orphanet:79306]
synonym: "progressive familial intrahepatic cholestasis" RELATED [GARD:0009802]
synonym: "severe ATP8B1 deficiency" RELATED [GARD:0009802]
xref: DOID:0070226 {source="MONDO:equivalentTo"}
xref: GARD:9802 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:79306", source="Orphanet:79306/attributed", source="Orphanet:79306/ntbt"}
xref: MEDGEN:1645830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535933 {source="Orphanet:79306", source="Orphanet:79306/e"}
xref: NANDO:1201043 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:211600 {source="Orphanet:79306", source="GARD:0009802", source="MONDO:equivalentTo", source="Orphanet:79306/e"}
xref: Orphanet:172 {source="OMIM:211600"}
xref: Orphanet:79306 {source="GARD:0009802", source="MONDO:equivalentTo", source="OMIM:211600"}
xref: UMLS:C4551898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645830"}
is_a: MONDO:0015762 {source="OMIM:211600", source="Orphanet:79306"} ! progressive familial intrahepatic cholestasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008893
name: C syndrome
def: "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." [Orphanet:1308]
subset: gard_rare {source="GARD:5978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:882"}
subset: ordo_disorder {source="Orphanet:1308"}
subset: ordo_malformation_syndrome {source="Orphanet:1308"}
subset: orphanet_rare {source="Orphanet:1308"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C syndrome" EXACT [OMIM:211750]
synonym: "Opitz C trigonocephaly" EXACT [Orphanet:1308]
synonym: "Opitz trigonocephaly C syndrome" EXACT [Orphanet:1308]
synonym: "Opitz trigonocephaly syndrome" EXACT [OMIM:211750, Orphanet:1308]
synonym: "OTCS" EXACT ABBREVIATION [Orphanet:1308]
synonym: "trigonocephaly C syndrome" EXACT [Orphanet:1308]
synonym: "trigonocephaly syndrome" RELATED [OMIM:211750]
xref: DOID:0111581 {source="MONDO:equivalentTo"}
xref: GARD:5978 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1308/attributed", source="Orphanet:1308/ntbt", source="Orphanet:1308"}
xref: MEDGEN:167105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537418 {source="MONDO:equivalentTo"}
xref: NORD:882 {source="MONDO:NORD"}
xref: OMIM:211750 {source="Orphanet:1308/e", source="MONDO:equivalentTo", source="Orphanet:1308"}
xref: Orphanet:1308 {source="MONDO:equivalentTo", source="OMIM:211750"}
xref: SCTID:715409005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167105"}
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015159 {source="Orphanet:1308"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:1308"} ! syndromic craniosynostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1308", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16892 {source="MONDO:mim2gene_medgen"} ! CD96
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5978/c-syndrome" xsd:anyURI {source="GARD:0005978"}

[Term]
id: MONDO:0008894
name: cataract-hypertrichosis-intellectual disability syndrome
def: "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." [Orphanet:1375]
subset: gard_rare {source="GARD:1052", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1375"}
subset: ordo_malformation_syndrome {source="Orphanet:1375"}
subset: orphanet_rare {source="Orphanet:1375"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAHMR syndrome" EXACT [OMIM:211770, Orphanet:1375]
synonym: "cataract, hypertrichosis, intellectual disability syndrome" RELATED [OMIM:211770]
synonym: "cataract, hypertrichosis, mental retardation syndrome" RELATED DEPRECATED [OMIM:211770]
xref: GARD:1052 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1375/attributed", source="Orphanet:1375/ntbt", source="Orphanet:1375"}
xref: MEDGEN:167117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537959 {source="MONDO:equivalentTo"}
xref: OMIM:211770 {source="Orphanet:1375", source="MONDO:equivalentTo", source="Orphanet:1375/e"}
xref: Orphanet:1375 {source="OMIM:211770", source="MONDO:equivalentTo"}
xref: SCTID:722379001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167117"}
is_a: MONDO:0019280 {source="MESH:C537959", source="Orphanet:1375"} ! hypertrichosis
is_a: MONDO:0019287 {source="Orphanet:1375"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1375", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008895
name: hereditary arterial and articular multiple calcification syndrome
def: "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints." [Orphanet:289601]
subset: gard_rare {source="GARD:10762", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289601"}
subset: orphanet_rare {source="Orphanet:289601"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACDC" RELATED ABBREVIATION [GARD:0010762]
synonym: "arterial calcification and distal joint calcification" RELATED [GARD:0010762]
synonym: "arterial calcification due to CD73 deficiency" RELATED [GARD:0010762]
synonym: "arterial calcification due to deficiency of Cd73" RELATED [OMIM:211800]
synonym: "calcification of joints and arteries" EXACT [MONDO:Lexical, OMIM:211800, Orphanet:289601]
synonym: "CALJA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:211800, Orphanet:289601]
xref: DOID:0111582 {source="MONDO:equivalentTo"}
xref: GARD:10762 {source="MONDO:GARD"}
xref: MEDGEN:347132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565891 {source="MONDO:equivalentTo"}
xref: OMIM:211800 {source="MONDO:equivalentTo", source="Orphanet:289601", source="Orphanet:289601/e"}
xref: Orphanet:289601 {source="MONDO:equivalentTo", source="OMIM:211800"}
xref: SCTID:718602007 {source="MONDO:equivalentTo"}
xref: UMLS:C1859372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347132"}
is_a: MONDO:0005385 {source="Orphanet:289601"} ! vascular disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8021 {source="MONDO:mim2gene_medgen"} ! NT5E

[Term]
id: MONDO:0008896
name: campomelia, Cumming type
def: "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." [Orphanet:1318]
subset: gard_rare {source="GARD:1061", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1318"}
subset: ordo_malformation_syndrome {source="Orphanet:1318"}
subset: orphanet_rare {source="Orphanet:1318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "campomelia Cumming type" RELATED [GARD:0001061]
synonym: "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys" RELATED [GARD:0001061]
synonym: "campomelia, Cumming type" EXACT [OMIM:211890]
synonym: "cervical lymphocele with bowed long bones" RELATED [OMIM:211890]
synonym: "Cumming syndrome" RELATED [OMIM:211890]
xref: GARD:1061 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1318", source="Orphanet:1318/attributed", source="Orphanet:1318/ntbt"}
xref: MEDGEN:347864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537966 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"}
xref: OMIM:211890 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"}
xref: Orphanet:1318 {source="OMIM:211890", source="MONDO:equivalentTo"}
xref: SCTID:720599002 {source="MONDO:equivalentTo"}
xref: UMLS:C1859371 {source="MEDGEN:347864", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:1318"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
is_a: MONDO:0019698 {source="Orphanet:1318"} ! bent bone dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type" xsd:anyURI {source="GARD:0001061"}

[Term]
id: MONDO:0008897
name: obsolete tumoral calcinosis, hyperphosphatemic, familial, 1
comment: Split this term into the more general Orphanet class and more specific OMIM term.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/962" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100251

[Term]
id: MONDO:0008898
name: camptodactyly syndrome, Guadalajara type 1
def: "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." [Orphanet:1327]
subset: gard_rare {source="GARD:1067", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1327"}
subset: ordo_malformation_syndrome {source="Orphanet:1327"}
subset: orphanet_rare {source="Orphanet:1327"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptodactyly syndrome Guadalajara type 1" RELATED [GARD:0001067]
synonym: "camptodactyly syndrome, Guadalajara, type 1" RELATED [OMIM:211910]
synonym: "camptodactyly syndrome, Guadalajara, type I" RELATED [MONDO:Lexical, OMIM:211910]
synonym: "faciothoracoskeletal syndrome" RELATED [OMIM:211910]
synonym: "FTSS" RELATED ABBREVIATION [GARD:0001067]
synonym: "GCS 1" RELATED [GARD:0001067]
synonym: "GCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211910]
xref: GARD:1067 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1327", source="Orphanet:1327/attributed", source="Orphanet:1327/ntbt"}
xref: MEDGEN:395241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537970 {source="MONDO:equivalentTo", source="Orphanet:1327", source="Orphanet:1327/e"}
xref: OMIM:211910 {source="MONDO:equivalentTo", source="Orphanet:1327", source="Orphanet:1327/e"}
xref: Orphanet:1327 {source="MONDO:equivalentTo", source="OMIM:211910"}
xref: SCTID:720602007 {source="MONDO:equivalentTo"}
xref: UMLS:C1859359 {source="MEDGEN:395241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000111 {source="DC-OMIM:211910"} ! camptodactyly syndrome, Guadalajara
is_a: MONDO:0015161 {source="Orphanet:1327"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1327", source="Orphanet:1327/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1" xsd:anyURI {source="GARD:0001067"}

[Term]
id: MONDO:0008899
name: camptodactyly syndrome, Guadalajara type 2
def: "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." [Orphanet:1326]
subset: gard_rare {source="GARD:1068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1326"}
subset: ordo_malformation_syndrome {source="Orphanet:1326"}
subset: orphanet_rare {source="Orphanet:1326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptodactyly syndrome Guadalajara type 2" RELATED [GARD:0001068]
synonym: "camptodactyly syndrome, Guadalajara, type 2" RELATED [OMIM:211920]
synonym: "camptodactyly syndrome, Guadalajara, type II" RELATED [OMIM:211920]
synonym: "Guadalajara camptodactyly syndrome type II" RELATED [GARD:0001068]
xref: GARD:1068 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1326", source="Orphanet:1326/attributed", source="Orphanet:1326/ntbt"}
xref: MEDGEN:419870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537971 {source="Orphanet:1326", source="Orphanet:1326/e"}
xref: MESH:C567138 {source="MONDO:equivalentTo"}
xref: OMIM:211920 {source="MONDO:equivalentTo", source="Orphanet:1326", source="Orphanet:1326/e"}
xref: Orphanet:1326 {source="MONDO:equivalentTo", source="OMIM:211920"}
xref: SCTID:720603002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419870"}
is_a: MONDO:0000111 {source="DC-OMIM:211920"} ! camptodactyly syndrome, Guadalajara
is_a: MONDO:0015161 {source="Orphanet:1326"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0021147 {source="Orphanet:1326", source="Orphanet:1326/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2" xsd:anyURI {source="GARD:0001068"}

[Term]
id: MONDO:0008900
name: camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
def: "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." [Orphanet:1321]
subset: gard_rare {source="GARD:1064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1321"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:1321"}
subset: rare
synonym: "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" EXACT [OMIM:211930]
synonym: "camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia" RELATED [GARD:0001064]
xref: GARD:1064 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1321"}
xref: MEDGEN:395240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537287 {source="Orphanet:1321"}
xref: MESH:C537974 {source="Orphanet:1321", source="MONDO:equivalentTo"}
xref: OMIM:211930 {source="Orphanet:1321", source="MONDO:equivalentTo"}
xref: Orphanet:1321 {source="MONDO:equivalentTo", source="OMIM:211930"}
xref: UMLS:C1859357 {source="MEDGEN:395240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C537974/inferred"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:1321"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis
relationship: has_characteristic HP:0000007 {source="Orphanet:1321"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0008901
name: Tel Hashomer camptodactyly syndrome
def: "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." [Orphanet:3292, PMID:24171333]
subset: gard_rare {source="GARD:5128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3292"}
subset: ordo_malformation_syndrome {source="Orphanet:3292"}
subset: orphanet_rare {source="Orphanet:3292"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" RELATED [OMIM:211960]
synonym: "Tel Hashomer camptodactyly syndrome" EXACT [OMIM:211960]
xref: GARD:5128 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:3292/attributed", source="Orphanet:3292/ntbt", source="Orphanet:3292"}
xref: MEDGEN:347860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536953 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="Orphanet:3292"}
xref: OMIM:211960 {source="Orphanet:3292/e", source="MONDO:equivalentTo", source="Orphanet:3292"}
xref: Orphanet:3292 {source="MONDO:equivalentTo", source="OMIM:211960"}
xref: SCTID:719946008 {source="MONDO:equivalentTo"}
xref: UMLS:C1859356 {source="MEDGEN:347860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020120 {source="Orphanet:3292", source="Orphanet:3292/inferred"} ! skeletal muscle disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome" xsd:anyURI {source="GARD:0005128"}

[Term]
id: MONDO:0008902
name: camptodactyly-ichthyosis syndrome
synonym: "camptodactyly ichthyosis syndrome" RELATED [GARD:0010134]
synonym: "camptodactyly-ichthyosis syndrome" EXACT [OMIM:211965]
xref: MEDGEN:347130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537976 {source="MONDO:equivalentTo"}
xref: OMIM:211965 {source="MONDO:equivalentTo"}
xref: UMLS:C1859355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347130"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10134/camptodactyly-ichthyosis-syndrome" xsd:anyURI {source="GARD:0010134"}

[Term]
id: MONDO:0008903
name: lung cancer
def: "A malignant neoplasm involving the lung." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2]
synonym: "adenocarcinoma of lung, somatic" EXACT [OMIM:211980, OMIM:genemap2]
synonym: "alveolar cell carcinoma" RELATED [OMIM:211980]
synonym: "cancer of lung" EXACT [MONDO:patterns/cancer]
synonym: "lung cancer" EXACT [MONDO:patterns/location]
synonym: "lung cancer, protection against" RELATED [OMIM:211980]
synonym: "lung cancer, protection against, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2]
synonym: "lung cancer, resistance to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2]
synonym: "lung cancer, somatic" EXACT [OMIM:211980, OMIM:genemap2]
synonym: "lung cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2]
synonym: "lung neoplasm" RELATED [DOID:1324]
synonym: "malignant lung neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant lung tumor" EXACT [NCIT:C7377]
synonym: "malignant lung tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of lung" EXACT [MONDO:patterns/cancer, NCIT:C7377]
synonym: "malignant neoplasm of the lung" EXACT [NCIT:C7377]
synonym: "malignant tumor of lung" EXACT [NCIT:C7377]
synonym: "malignant tumor of the lung" EXACT [NCIT:C7377]
synonym: "malignant tumour of lung" EXACT OMO:0003005 []
synonym: "malignant tumour of the lung" EXACT OMO:0003005 []
synonym: "Nonsmall cell lung cancer" RELATED [OMIM:211980]
synonym: "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2]
synonym: "nonsmall cell lung cancer, somatic" EXACT [OMIM:211980, OMIM:genemap2]
synonym: "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2]
xref: DOID:1324 {source="MONDO:equivalentTo"}
xref: ICD10CM:C34.1 {source="DOID:1324"}
xref: ICD10CM:C34.2 {source="DOID:1324"}
xref: ICD10CM:C34.3 {source="DOID:1324"}
xref: ICD9:162.3 {source="DOID:1324"}
xref: ICD9:162.4 {source="DOID:1324"}
xref: ICD9:162.5 {source="DOID:1324"}
xref: ICD9:162.8 {source="MONDO:relatedTo", source="DOID:1324", source="MONDO:i2s"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7377 {source="MONDO:equivalentTo"}
xref: OMIM:211980 {source="DOID:1324", source="MONDO:equivalentTo"}
xref: SCTID:187860004 {source="DOID:1324"}
xref: SCTID:187863002 {source="DOID:1324"}
xref: SCTID:187864008 {source="DOID:1324"}
xref: SCTID:187867001 {source="DOID:1324"}
xref: SCTID:187868006 {source="DOID:1324"}
xref: SCTID:187871003 {source="DOID:1324"}
xref: SCTID:187874006 {source="DOID:1324"}
xref: SCTID:269464000 {source="DOID:1324"}
xref: SCTID:363358000 {source="MONDO:equivalentTo"}
xref: UMLS:C0242379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66885"}
is_a: MONDO:0000376 {source="DOID:1324", source="MONDO:Redundant"} ! respiratory system cancer
is_a: MONDO:0003274 {source="MONDO:Redundant", source="NCIT:C7377"} ! thoracic cancer
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C7377"} ! lung neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002048 ! lung
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: disease_has_feature HP:0030828 {source="MONDO:Wikidata"} ! Wheezing
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008904
name: camptomelic syndrome, long-limb type
subset: gard_rare {source="GARD:1071", source="MONDO:GARD"}
subset: rare
synonym: "campomelic syndrome long limb type" RELATED [GARD:0001071]
synonym: "campomelic syndrome, long-limb type" RELATED [OMIM:211990]
synonym: "Camptomelic syndrome long limb type" RELATED [GARD:0001071]
synonym: "camptomelic syndrome, long-limb type" EXACT [OMIM:211990]
xref: GARD:1071 {source="MONDO:GARD"}
xref: MEDGEN:347129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537977 {source="MONDO:equivalentTo"}
xref: OMIM:211990 {source="MONDO:equivalentTo"}
xref: Orphanet:140 {source="OMIM:211990"}
xref: UMLS:C1859354 {source="MEDGEN:347129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: excluded_subClassOf MONDO:0007251 {source="MESH:C537977", source="Orphanet:140/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! campomelic dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type" xsd:anyURI {source="GARD:0001071"}

[Term]
id: MONDO:0008905
name: predisposition to invasive fungal disease due to CARD9 deficiency
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457088"}
subset: orphanet_rare {source="Orphanet:457088"}
subset: rare
synonym: "CANDF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212050]
synonym: "candidiasis familial chronic mucocutaneous, autosomal recessive" RELATED [GARD:0001077]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [OMIM:212050]
synonym: "candidiasis, familial, 2" RELATED [MONDO:Lexical, OMIM:212050]
synonym: "candidiasis, familial, 2, autosomal recessive" EXACT [OMIM:212050, OMIM:genemap2]
synonym: "candidiasis, familial, type 2" EXACT [MONDORULE:1, OMIM:212050]
synonym: "CARD9 deficiency" RELATED [GARD:0001077]
synonym: "CARD9 immunodeficiency" RELATED [OMIM:212050]
synonym: "invasive candidiasis-deep dermatophytosis syndrome" EXACT [Orphanet:457088]
xref: ICD10CM:D84.8 {source="Orphanet:457088/attributed", source="Orphanet:457088/ntbt", source="Orphanet:457088"}
xref: MEDGEN:347128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200773 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:212050 {source="Orphanet:457088/e", source="MONDO:equivalentTo", source="Orphanet:457088"}
xref: Orphanet:457088 {source="MONDO:equivalentTo"}
xref: UMLS:C1859353 {source="MONDO:equivalentTo", source="MEDGEN:347128", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0015279 {source="OMIM:212050", source="https://orcid.org/0000-0001-5208-3432"} ! chronic mucocutaneous candidiasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16391 {source="MONDO:mim2gene_medgen"} ! CARD9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008906
name: obsolete carbimazole sensitivity
synonym: "carbimazole sensitivity" EXACT [OMIM:212060]
xref: OMIM:212060 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0008907
name: PMM2-congenital disorder of glycosylation
def: "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." [Orphanet:79318]
subset: gard_rare {source="GARD:9826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1585"}
subset: ordo_disorder {source="Orphanet:79318"}
subset: orphanet_rare {source="Orphanet:79318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type Ia" EXACT [Orphanet:79318]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1A" RELATED [GARD:0009826]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)" RELATED [GARD:0009826]
synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia" RELATED [OMIM:212065]
synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly" RELATED [OMIM:212065]
synonym: "CDG 1A" EXACT [GARD:0009826, OMIM:212065]
synonym: "CDG syndrome type Ia" EXACT [Orphanet:79318]
synonym: "CDG-IA" EXACT [Orphanet:79318]
synonym: "CDG1A" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C126868, OMIM:212065, Orphanet:79318]
synonym: "congenital disorder of glycosylation type 1a" EXACT [Orphanet:79318]
synonym: "congenital disorder of glycosylation type Ia" EXACT [Orphanet:79318]
synonym: "congenital disorder of glycosylation, type Ia" RELATED [MONDO:Lexical, OMIM:212065]
synonym: "Jaeken syndrome" RELATED [OMIM:212065]
synonym: "phosphomannomutase 2 deficiency" EXACT [OMIM:212065, Orphanet:79318]
synonym: "PMM2-CDG" EXACT ABBREVIATION [NORD:1585, Orphanet:79318]
synonym: "PMM2-CDG (CDG-Ia)" RELATED [GARD:0009826]
synonym: "PMM2-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0080552 {source="MONDO:equivalentTo"}
xref: GARD:9826 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79318/attributed", source="Orphanet:79318/ntbt", source="Orphanet:79318"}
xref: MEDGEN:138111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535739 {source="MONDO:equivalentTo"}
xref: NCIT:C126868 {source="MONDO:equivalentTo"}
xref: NORD:1585 {source="MONDO:NORD"}
xref: OMIM:212065 {source="Orphanet:79318", source="MONDO:equivalentTo", source="Orphanet:79318/e"}
xref: Orphanet:79318 {source="OMIM:212065", source="MONDO:equivalentTo"}
xref: SCTID:459063003 {source="MONDO:equivalentTo"}
xref: UMLS:C0349653 {source="MEDGEN:138111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:212065"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535739", source="MONDO:0008907/inferred", source="MONDO:Redundant", source="NCIT:C126868", source="OMIM:212065", source="Orphanet:79318/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79318"} ! disorder of protein N-glycosylation
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9115 {source="MONDO:mim2gene_medgen"} ! PMM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0008908
name: MGAT2-congenital disorder of glycosylation
def: "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." [Orphanet:79329]
subset: gard_rare {source="GARD:9828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79329"}
subset: orphanet_rare {source="Orphanet:79329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alkuraya syndrome" RELATED [OMIM:212066]
synonym: "carbohydrate deficient glycoprotein syndrome type IIa" EXACT [Orphanet:79329]
synonym: "carbohydrate-deficient glycoprotein syndrome type 2" RELATED [GARD:0009828]
synonym: "carbohydrate-deficient glycoprotein syndrome, type II" RELATED [OMIM:212066]
synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly" RELATED [OMIM:212066]
synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly" RELATED [GARD:0009828]
synonym: "CDG 2A" RELATED [GARD:0009828]
synonym: "CDG IIa" RELATED [OMIM:212066]
synonym: "CDG syndrome type IIa" EXACT [Orphanet:79329]
synonym: "CDG-IIa" EXACT [Orphanet:79329]
synonym: "CDG2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212066, Orphanet:79329]
synonym: "CDGS2" RELATED ABBREVIATION [GARD:0009828]
synonym: "congenital disorder of glycosylation type 2a" EXACT [Orphanet:79329]
synonym: "congenital disorder of glycosylation type IIa" EXACT [Orphanet:79329]
synonym: "congenital disorder of glycosylation, type IIa" RELATED [MONDO:Lexical, OMIM:212066]
synonym: "intellectual disability, Growth retardation, prominent columella, and open mouth" RELATED [OMIM:212066]
synonym: "mental retardation, Growth retardation, prominent columella, and open mouth" RELATED DEPRECATED [OMIM:212066]
synonym: "MGAT2-CDG" EXACT ABBREVIATION [Orphanet:79329]
synonym: "MGAT2-CDG (CDG-IIa)" RELATED [GARD:0009828]
synonym: "N-acetylglucosaminyltransferase 2 deficiency" EXACT [Orphanet:79329]
xref: DOID:0070253 {source="MONDO:equivalentTo"}
xref: GARD:9828 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79329/attributed", source="Orphanet:79329/ntbt", source="Orphanet:79329"}
xref: MEDGEN:443956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535752 {source="MONDO:equivalentTo"}
xref: OMIM:212066 {source="Orphanet:79329", source="MONDO:equivalentTo", source="Orphanet:79329/e"}
xref: Orphanet:79329 {source="OMIM:212066", source="MONDO:equivalentTo"}
xref: SCTID:724142005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443956"}
is_a: MONDO:0005267 {source="MONDO:0018290-obsoleted"} ! heart disorder
is_a: MONDO:0005501 {source="DC-OMIM:212066", source="OMIM:212066"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017740 {source="Orphanet:79329"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7045 {source="MONDO:mim2gene_medgen"} ! MGAT2

[Term]
id: MONDO:0008909
name: congenital disorder of glycosylation, type i/IIx
synonym: "CDG X" RELATED [GARD:0009840]
synonym: "CDG-X" RELATED [OMIM:212067]
synonym: "congenital disorder of glycosylation type I/IIX" RELATED [GARD:0009840]
synonym: "congenital disorder of glycosylation, type i/IIx" EXACT [OMIM:212067]
xref: MEDGEN:91162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562844 {source="MONDO:equivalentTo"}
xref: OMIM:212067 {source="MONDO:equivalentTo"}
xref: UMLS:C0349655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91162"}
is_a: MONDO:0003847 {source="MESH:C562844/inferred"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9840/congenital-disorder-of-glycosylation-type-iiix" xsd:anyURI {source="GARD:0009840"}

[Term]
id: MONDO:0008910
name: carboxypeptidase N deficiency
def: "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity." [NCIT:C132196]
synonym: "carboxypeptidase N deficiency" EXACT CLINGEN_LABEL [OMIM:212070]
xref: DOID:0111583 {source="MONDO:equivalentTo"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562876 {source="MONDO:equivalentTo"}
xref: NCIT:C132196 {source="MONDO:equivalentTo"}
xref: OMIM:212070 {source="MONDO:equivalentTo"}
xref: SCTID:234627009 {source="MONDO:equivalentTo"}
xref: UMLS:C0398782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98312"}
is_a: MONDO:0003847 {source="MESH:C562876/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2312 {source="MONDO:mim2gene_medgen"} ! CPN1

[Term]
id: MONDO:0008911
name: cardiac lipidosis, familial
subset: gard_rare {source="GARD:15148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiac lipidosis, familial" EXACT [OMIM:212080]
xref: GARD:15148 {source="MONDO:GARD"}
xref: MEDGEN:395234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565884 {source="MONDO:equivalentTo"}
xref: OMIM:212080 {source="MONDO:equivalentTo"}
xref: Orphanet:137675 {source="OMIM:212080"}
xref: UMLS:C1859332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395234"}
is_a: MONDO:0010771 {source="Orphanet:137675/btnt"} ! histiocytoid cardiomyopathy

[Term]
id: MONDO:0008912
name: cardiac septal defects with coarctation of the aorta
synonym: "cardiac septal defects with coarctation of the aorta" EXACT [OMIM:212090]
xref: MEDGEN:347855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565883 {source="MONDO:equivalentTo"}
xref: OMIM:212090 {source="MONDO:equivalentTo"}
xref: UMLS:C1859331 {source="MEDGEN:347855", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008913
name: cardiac valvular defect, developmental
subset: otar {source="MONDO:OTAR"}
synonym: "CARDIAC valvular defect, developmental" RELATED [OMIM:212093]
synonym: "cardiac valvular defect, developmental" EXACT [OMIM:212093]
synonym: "CVDD" RELATED ABBREVIATION [OMIM:212093]
xref: DOID:0080633 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565882 {source="MONDO:equivalentTo"}
xref: OMIM:212093 {source="MONDO:equivalentTo"}
xref: UMLS:C5774175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823949"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
is_a: MONDO:0031323 {source="OMIM:212093"} ! cardiac valvular defect
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9067 {source="MONDO:mim2gene_medgen"} ! PLD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6139" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0008914
name: cardioauditory syndrome of Sanchez Cascos
synonym: "cardioauditory syndrome of Sanchez Cascos" EXACT [OMIM:212100]
synonym: "Sanchez Cascos cardioauditory syndrome" RELATED [GARD:0008519]
xref: MEDGEN:395233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535577 {source="MONDO:equivalentTo"}
xref: OMIM:212100 {source="MONDO:equivalentTo"}
xref: UMLS:C1859329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395233"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8519/cardioauditory-syndrome-of-sanchez-cascos" xsd:anyURI {source="GARD:0008519"}

[Term]
id: MONDO:0008915
name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
def: "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." [Orphanet:2229]
subset: gard_rare {source="GARD:3373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2229"}
subset: ordo_malformation_syndrome {source="Orphanet:2229"}
subset: orphanet_rare {source="Orphanet:2229"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiogenital syndrome" EXACT [Orphanet:2229]
synonym: "cardiomyopathy with primary testicular failure" RELATED [OMIM:212112]
synonym: "cardiomyopathy, congestive, with hypergonadotropic hypogonadism" RELATED [OMIM:212112]
synonym: "cardiomyopathy, dilated, with hypergonadotropic hypogonadism" RELATED [OMIM:212112]
synonym: "cardiomyopathy, dilated, with premature ovarian failure" RELATED [OMIM:212112]
synonym: "dilated cardiomyopathy with hypergonadotropic hypogonadism" RELATED [GARD:0003373]
synonym: "genital anomaly with cardiomyopathy" RELATED [OMIM:212112]
synonym: "Malouf syndrome" EXACT [OMIM:212112, Orphanet:2229]
synonym: "Najjar syndrome" EXACT [OMIM:212112, Orphanet:2229]
xref: DOID:0111584 {source="MONDO:equivalentTo"}
xref: GARD:3373 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2229", source="Orphanet:2229/attributed", source="Orphanet:2229/ntbt"}
xref: MEDGEN:162901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C174217 {source="MONDO:equivalentTo"}
xref: OMIM:212112 {source="MONDO:equivalentTo", source="Orphanet:2229", source="Orphanet:2229/e"}
xref: Orphanet:2229 {source="MONDO:equivalentTo", source="OMIM:212112"}
xref: SCTID:719451006 {source="MONDO:equivalentTo"}
xref: UMLS:C0796031 {source="MEDGEN:162901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="GARD:0003373"} ! male reproductive system disorder
is_a: MONDO:0005151 {source="GARD:0003373"} ! endocrine system disorder
is_a: MONDO:0005267 {source="GARD:0003373"} ! heart disorder
relationship: disease_has_major_feature HP:0000815 {source="GARD:0003373", source="Orphanet:2229"} ! Hypergonadotropic hypogonadism
relationship: disease_has_major_feature HP:0001644 {source="GARD:0003373", source="Orphanet:2229"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:2229", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA

[Term]
id: MONDO:0008916
name: cardiomyopathy associated with myopathy and sudden death
synonym: "cardiomyopathy associated with myopathy and sudden death" EXACT [OMIM:212130]
xref: MEDGEN:395232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565881 {source="MONDO:equivalentTo"}
xref: OMIM:212130 {source="MONDO:equivalentTo"}
xref: UMLS:C1859328 {source="MEDGEN:395232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008917
name: heart defects-limb shortening syndrome
def: "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." [Orphanet:1354]
subset: gard_rare {source="GARD:2613", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1354"}
subset: ordo_malformation_syndrome {source="Orphanet:1354"}
subset: orphanet_rare {source="Orphanet:1354"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardioskeletal syndrome kuwaiti type" RELATED []
synonym: "cardioskeletal syndrome, KUWAITI type" RELATED [OMIM:212135]
synonym: "heart defect and limb shortening syndrome" EXACT []
synonym: "heart defects and limb shortening" RELATED [GARD:0002613]
xref: GARD:2613 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1354", source="Orphanet:1354/attributed", source="Orphanet:1354/ntbt"}
xref: MEDGEN:349142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535850 {source="Orphanet:1354", source="MONDO:equivalentTo", source="Orphanet:1354/e"}
xref: OMIM:212135 {source="Orphanet:1354", source="GARD:0002613", source="MONDO:equivalentTo", source="Orphanet:1354/e"}
xref: Orphanet:1354 {source="MONDO:equivalentTo", source="OMIM:212135"}
xref: SCTID:721009008 {source="MONDO:equivalentTo"}
xref: UMLS:C1859327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349142"}
is_a: MONDO:0005453 {source="MESH:C535850"} ! congenital heart disease
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015161 {source="Orphanet:1354"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:1354", source="Orphanet:1354/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:212135", source="Orphanet:1354"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type" xsd:anyURI {source="GARD:0002613"}

[Term]
id: MONDO:0008918
name: carnitine-acylcarnitine translocase deficiency
def: "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." [Orphanet:159]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:159"}
subset: orphanet_rare {source="Orphanet:159"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CACT deficiency" EXACT [Orphanet:159]
synonym: "Cact deficiency" RELATED [OMIM:212138]
synonym: "CACTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212138]
synonym: "CARNITINE-acylcarnitine translocase deficiency" RELATED [OMIM:212138]
synonym: "carnitine-acylcarnitine translocase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:212138]
xref: DOID:0111585 {source="MONDO:equivalentTo"}
xref: GARD:1123 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:159", source="Orphanet:159/attributed", source="Orphanet:159/ntbt"}
xref: MEDGEN:91000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562812 {source="MONDO:equivalentTo"}
xref: NANDO:1200972 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200511 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C133086 {source="MONDO:equivalentTo"}
xref: OMIM:212138 {source="Orphanet:159", source="MONDO:equivalentTo", source="Orphanet:159/e"}
xref: Orphanet:159 {source="MONDO:equivalentTo", source="OMIM:212138"}
xref: SCTID:238003000 {source="MONDO:equivalentTo"}
xref: UMLS:C0342791 {source="MEDGEN:91000", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis
is_a: MONDO:0017716 {source="Orphanet:159"} ! disorder of carnitine cycle and carnitine transport
relationship: excluded_subClassOf MONDO:0005045 {source="https://orcid.org/0000-0001-5208-3432"} ! hypertrophic cardiomyopathy
relationship: excluded_subClassOf MONDO:0005267 {source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1421 {source="MONDO:mim2gene_medgen"} ! SLC25A20
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency" xsd:anyURI {source="GARD:0001123"}

[Term]
id: MONDO:0008919
name: systemic primary carnitine deficiency disease
def: "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." [Orphanet:158]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5104", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158"}
subset: orphanet_rare {source="Orphanet:158"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnitine deficiency" EXACT [NCIT:C98864]
synonym: "Carnitine deficiency, primary" RELATED [OMIM:212140]
synonym: "CARNITINE deficiency, systemic primary" RELATED [MONDO:Lexical, OMIM:212140]
synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine" RELATED [OMIM:212140]
synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine" RELATED [GARD:0005104]
synonym: "Carnitine plasma-membrane transporter deficiency" RELATED [GARD:0005104]
synonym: "Carnitine transporter defect" EXACT [Orphanet:158]
synonym: "carnitine transporter deficiency" EXACT [DOID:14365]
synonym: "Carnitine transporter, plasma-Membrane, deficiency of" RELATED [OMIM:212140]
synonym: "Carnitine uptake defect" RELATED [OMIM:212140]
synonym: "carnitine uptake defect" EXACT [DOID:14365]
synonym: "Carnitine uptake deficiency" EXACT [Orphanet:158]
synonym: "CDSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212140, Orphanet:158]
synonym: "cud" EXACT [Orphanet:158]
synonym: "deficiency of plasma-membrane carnitine transporter" EXACT [DOID:14365, Orphanet:158]
synonym: "primary carnitine deficiency" EXACT [DOID:14365, ICD9CM:277.81]
synonym: "renal carnitine transport defect" EXACT [DOID:14365]
synonym: "SPCD" EXACT ABBREVIATION [Orphanet:158]
synonym: "systemic Carnitine deficiency" RELATED [OMIM:212140]
synonym: "systemic primary carnitine deficiency" RELATED [Orphanet:158]
synonym: "systemic primary carnitine deficiency disease" EXACT CLINGEN_LABEL []
xref: DOID:14365 {source="MONDO:equivalentTo"}
xref: GARD:5104 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:158", source="Orphanet:158/attributed", source="Orphanet:158/ntbt"}
xref: ICD10CM:E71.41 {source="DOID:14365"}
xref: ICD10CM:E71.42 {source="DOID:14365"}
xref: ICD9:277.81 {source="DOID:14365"}
xref: ICD9:277.82 {source="DOID:14365"}
xref: MEDGEN:90999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536778 {source="MONDO:equivalentTo", source="DOID:14365"}
xref: NANDO:1200973 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200508 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98864 {source="MONDO:equivalentTo", source="DOID:14365"}
xref: OMIM:212140 {source="Orphanet:158", source="MONDO:equivalentTo", source="Orphanet:158/e", source="DOID:14365"}
xref: Orphanet:158 {source="OMIM:212140", source="MONDO:equivalentTo"}
xref: SCTID:21764004 {source="MONDO:equivalentTo", source="DOID:14365"}
xref: UMLS:C0342788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90999"}
is_a: MONDO:0004736 {source="DOID:14365"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0017713 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fatty acid oxidation and ketogenesis
is_a: MONDO:0017716 {source="Orphanet:158"} ! disorder of carnitine cycle and carnitine transport
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10969 {source="MONDO:mim2gene_medgen"} ! SLC22A5

[Term]
id: MONDO:0008920
name: carnitine deficiency, myopathic
synonym: "carnitine deficiency, myopathic" EXACT [OMIM:212160]
synonym: "myopathic carnitine deficiency" RELATED [GARD:0006616]
xref: MEDGEN:347852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536100 {source="MONDO:equivalentTo"}
xref: OMIM:212160 {source="MONDO:equivalentTo"}
xref: UMLS:C1859318 {source="MEDGEN:347852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6616/myopathic-carnitine-deficiency" xsd:anyURI {source="GARD:0006616"}

[Term]
id: MONDO:0008921
name: carnosinemia
def: "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." [Orphanet:1361]
subset: gard_rare {source="GARD:6001", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1361"}
subset: orphanet_rare {source="Orphanet:1361"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnosinase deficiency" EXACT [OMIM:212200, Orphanet:1361]
synonym: "carnosinemia" EXACT [OMIM:212200]
synonym: "homocarnosinosis" RELATED AMBIGUOUS [Orphanet:1361]
xref: GARD:6001 {source="MONDO:GARD"}
xref: ICD10CM:E70.8 {source="Orphanet:1361/attributed", source="Orphanet:1361/ntbt", source="Orphanet:1361"}
xref: MEDGEN:501203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125661 {source="MONDO:equivalentTo"}
xref: OMIM:212200 {source="Orphanet:1361/e", source="MONDO:equivalentTo", source="Orphanet:1361"}
xref: Orphanet:1361 {source="MONDO:equivalentTo", source="OMIM:212200"}
xref: SCTID:410052008 {source="MONDO:equivalentTo"}
xref: UMLS:C3495555 {source="MEDGEN:501203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C125661", source="Orphanet:1361/inferred"} ! metabolic disease
is_a: MONDO:0009351 ! homocarnosinosis
is_a: MONDO:0019232 {source="PMID:33340416"} ! inborn disorder of peptide metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0008922
name: Sengers syndrome
def: "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." [Orphanet:1369]
subset: gard_rare {source="GARD:1142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1369"}
subset: orphanet_rare {source="Orphanet:1369"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathic mitochondrial DNA depletion syndrome 10" RELATED [GARD:0001142]
synonym: "cardiomyopathy and cataract" RELATED [OMIM:212350]
synonym: "cataract and cardiomyopathy" RELATED [GARD:0001142]
synonym: "congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" RELATED [Orphanet:1369]
synonym: "mitochondrial DNA depletion syndrome 10" EXACT [DOID:0080132]
synonym: "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)" RELATED [OMIM:212350]
synonym: "Sengers syndrome" EXACT CLINGEN_LABEL [OMIM:212350, Orphanet:1369]
xref: DOID:0080132 {source="MONDO:equivalentTo"}
xref: GARD:1142 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1369", source="Orphanet:1369/attributed", source="Orphanet:1369/ntbt"}
xref: MEDGEN:395228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538280 {source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"}
xref: OMIM:212350 {source="DOID:0080132", source="MONDO:equivalentTo", source="Orphanet:1369", source="Orphanet:1369/e"}
xref: Orphanet:1369 {source="OMIM:212350", source="MONDO:equivalentTo"}
xref: SCTID:717812000 {source="MONDO:equivalentTo"}
xref: UMLS:C1859317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395228"}
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0016801 {source="Orphanet:1369"} ! mitochondrial substrate carrier disorder
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0018158 {source="OMIM:212350"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0044970 {source="Orphanet:1369", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21869 {source="MONDO:mim2gene_medgen"} ! AGK
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome" xsd:anyURI {source="GARD:0001142"}

[Term]
id: MONDO:0008923
name: autosomal recessive palmoplantar keratoderma and congenital alopecia
def: "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." [Orphanet:1366]
subset: gard_rare {source="GARD:1139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1366"}
subset: orphanet_rare {source="Orphanet:1366"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1366]
synonym: "cass" RELATED [GARD:0001139]
synonym: "cataract, alopecia, sclerodactyly" RELATED [GARD:0001139]
synonym: "cataract, alopecia, sclerodactyly syndrome" RELATED [GARD:0001139]
synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT [OMIM:212360, Orphanet:1366]
synonym: "palmoplantar keratoderma and congenital alopecia 2" RELATED [MONDO:Lexical, OMIM:212360]
synonym: "palmoplantar keratoderma and congenital alopecia type 2" EXACT [MONDORULE:1, OMIM:212360]
synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT [Orphanet:1366]
synonym: "PPK-CA, Wallis type" EXACT [Orphanet:1366]
synonym: "Ppkca, Wallis type" RELATED [OMIM:212360]
synonym: "PPKCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212360]
xref: DOID:0111245 {source="MONDO:equivalentTo"}
xref: GARD:1139 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"}
xref: ICD10CM:Q84.0 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"}
xref: MEDGEN:347851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535336 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"}
xref: OMIM:212360 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"}
xref: Orphanet:1366 {source="OMIM:212360", source="MONDO:equivalentTo"}
xref: UMLS:C1859316 {source="MEDGEN:347851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="Orphanet:1366"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:212360", source="Orphanet:1366"} ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia" xsd:anyURI {source="GARD:0001139"}

[Term]
id: MONDO:0008924
name: congenital cataract-ichthyosis syndrome
def: "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive." [Orphanet:1376]
subset: gard_rare {source="GARD:1145", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract and congenital ichthyosis" RELATED [OMIM:212400]
synonym: "Syndermotic cataract and congenital ichthyosis" RELATED [GARD:0001145]
xref: GARD:1145 {source="MONDO:GARD"}
xref: MEDGEN:347122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538281 {source="Orphanet:1376", source="MONDO:equivalentTo", source="Orphanet:1376/e"}
xref: OMIM:212400 {source="Orphanet:1376", source="MONDO:equivalentTo", source="Orphanet:1376/e"}
xref: Orphanet:1376 {source="MONDO:equivalentObsolete", source="OMIM:212400"}
xref: UMLS:C1859315 {source="MEDGEN:347122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015947 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008925
name: cataract 46 juvenile-onset
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series. {source="OMIM:212500"}
subset: gard_rare {source="GARD:1150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract 46, juvenile-onset" RELATED [OMIM:212500]
synonym: "cataract Hutterite type" RELATED [GARD:0001150]
synonym: "cataract, congenital or juvenile" RELATED [OMIM:212500]
synonym: "cataract, juvenile, Hutterite type" RELATED [OMIM:212500]
synonym: "CTRCT46" EXACT ABBREVIATION [DOID:0110243]
synonym: "early-onset non-syndromic cataract caused by mutation in LEMD2" EXACT [MONDO:design_pattern]
synonym: "juvenilae cataract Hutterite type" EXACT [DOID:0110243]
synonym: "LEMD2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110243 {source="MONDO:equivalentTo"}
xref: GARD:1150 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110243"}
xref: MEDGEN:113102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538286 {source="MONDO:equivalentTo"}
xref: OMIM:212500 {source="MONDO:equivalentTo", source="DOID:0110243", source="GARD:0001150"}
xref: Orphanet:91492 {source="OMIM:212500"}
xref: Orphanet:98987 {source="MONDO:equivalentObsolete", source="OMIM:212500"}
xref: UMLS:C0220721 {source="MEDGEN:113102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110243", source="MESH:C538286", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:212500"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21244 ! LEMD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21244 {source="MONDO:mim2gene_medgen"} ! LEMD2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type" xsd:anyURI {source="GARD:0001150"}

[Term]
id: MONDO:0008926
name: COFS syndrome
def: "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." [Orphanet:1466]
subset: gard_rare {source="GARD:6027", source="MONDO:GARD"}
subset: nord_rare {source="NORD:913", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1466"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Cerebro Oculo Facio Skeletal Syndrome" EXACT [NORD:913]
synonym: "cerebro-oculo-facio-skeletal syndrome" EXACT [NCIT:C3817]
synonym: "cerebrooculofacioskeletal syndrome" EXACT [MONDO:0000010, Orphanet:1466]
synonym: "COFS" EXACT ABBREVIATION []
synonym: "Pena-Shokeir syndrome type 2" EXACT [Orphanet:1466]
xref: DOID:0080910 {source="MONDO:equivalentTo"}
xref: GARD:6027 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1466/attributed", source="Orphanet:1466/ntbt", source="Orphanet:1466"}
xref: MEDGEN:1762238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3817 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: NORD:913 {source="MONDO:NORD"}
xref: OMIMPS:214150 {source="MONDO:equivalentTo"}
xref: Orphanet:1466 {source="MONDO:equivalentTo"}
xref: UMLS:C5399761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1762238"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C3817"} ! syndromic disease
is_a: MONDO:0016073 {source="Orphanet:1466"} ! syndromic microphthalmia
relationship: disease_has_basis_in_disruption_of GO:0006281 {source="https://orcid.org/0000-0002-6601-2165"} ! DNA repair
relationship: excluded_subClassOf MONDO:0016006 {source="Orphanet:1466", source="https://orcid.org/0000-0001-5208-3432"} ! Cockayne syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:1466"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:214150"} ! inherited

[Term]
id: MONDO:0008927
name: colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
def: "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity." [Orphanet:435930]
subset: gard_rare {source="GARD:17719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435930"}
subset: orphanet_rare {source="Orphanet:435930"}
subset: rare
synonym: "ODRMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212550]
synonym: "optic DISC anomalies with retinal and/or macular dystrophy" RELATED [MONDO:Lexical, OMIM:212550]
xref: DOID:0080635 {source="MONDO:equivalentTo"}
xref: GARD:17719 {source="MONDO:GARD"}
xref: ICD10CM:Q14.8 {source="Orphanet:435930/attributed", source="Orphanet:435930/ntbt", source="Orphanet:435930"}
xref: MEDGEN:894574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565876 {source="MONDO:equivalentTo"}
xref: OMIM:212550 {source="Orphanet:435930", source="MONDO:equivalentTo", source="Orphanet:435930/e"}
xref: Orphanet:2542 {source="MONDO:relatedTo", source="OMIM:212550"}
xref: Orphanet:435930 {source="MONDO:equivalentTo"}
xref: UMLS:C4225424 {source="MEDGEN:894574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10892 {source="MONDO:mim2gene_medgen"} ! SIX6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0008928
name: cataract-ataxia-deafness syndrome
def: "Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive." [Orphanet:1368]
subset: gard_rare {source="GARD:1141", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1368"}
subset: orphanet_rare {source="Orphanet:1368"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Begeer syndrome" RELATED [GARD:0001141]
synonym: "cataract ataxia deafness" RELATED [GARD:0001141]
synonym: "cataract ataxia deafness syndrome" RELATED [GARD:0001141]
synonym: "cataract-ataxia-deafness-retardation syndrome" RELATED [OMIM:212710]
synonym: "polyneuropathy, cataract, deafness syndrome" RELATED [GARD:0001141]
synonym: "polyneuropathy-cataract-deafness syndrome" RELATED [OMIM:212710]
xref: GARD:1141 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:1368", source="Orphanet:1368/attributed", source="Orphanet:1368/ntbt"}
xref: MEDGEN:163216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538283 {source="MONDO:equivalentTo", source="Orphanet:1368", source="Orphanet:1368/e"}
xref: OMIM:212710 {source="MONDO:equivalentTo", source="Orphanet:1368", source="Orphanet:1368/e"}
xref: Orphanet:1368 {source="MONDO:equivalentTo", source="OMIM:212710"}
xref: UMLS:C0796123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163216"}
is_a: MONDO:0100309 {source="Orphanet:1368"} ! hereditary ataxia

[Term]
id: MONDO:0008929
name: obsolete cataract-intellectual disability-hypogonadism syndrome
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3684" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0023910

[Term]
id: MONDO:0008930
name: celiac disease, susceptibility to, 1
subset: predisposition
synonym: "celiac disease, susceptibility to" EXACT [OMIM:212750, OMIM:genemap2]
synonym: "celiac disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:212750]
synonym: "celiac disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:212750]
synonym: "celiac sprue, susceptibility to, 1" RELATED [OMIM:212750]
synonym: "CELIAC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212750]
synonym: "coeliac disease, susceptibility to" EXACT OMO:0003005 []
synonym: "coeliac disease, susceptibility to, type 1" EXACT OMO:0003005 []
synonym: "coeliac sprue, susceptibility to, 1" RELATED OMO:0003005 []
synonym: "gluten-sensitive enteropathy, susceptibility to, 1" RELATED [OMIM:212750]
synonym: "susceptibility to celiac disease 1" RELATED [OMIM:212750]
synonym: "susceptibility to coeliac disease 1" RELATED OMO:0003005 []
xref: MEDGEN:395227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:212750 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:212750"}
xref: UMLS:C1859310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395227"}
is_a: MONDO:0020573 {source="OMIM:212750"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005130 ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0008931
name: Cenani-Lenz syndactyly syndrome
def: "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." [Orphanet:3258]
subset: gard_rare {source="GARD:5084", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3258"}
subset: ordo_malformation_syndrome {source="Orphanet:3258"}
subset: orphanet_rare {source="Orphanet:3258"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cenani syndactylism" RELATED [OMIM:212780]
synonym: "Cenani syndactyly" EXACT [Orphanet:3258]
synonym: "Cenani-Lenz syndactyly" EXACT [OMIM:212780, Orphanet:3258]
synonym: "Cenani-Lenz syndactyly syndrome" EXACT [MONDO:Lexical, OMIM:212780]
synonym: "Cenani-Lenz syndrome" RELATED [Orphanet:3258]
synonym: "Cenani-Lenz type syndactyly" RELATED [GARD:0005084]
synonym: "CLSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212780]
synonym: "syndactyly Cenani Lenz type" RELATED [GARD:0005084]
synonym: "syndactyly type 7" EXACT [DOID:0090015, Orphanet:3258]
synonym: "syndactyly, type 7" RELATED [OMIM:212780]
xref: DOID:0090015 {source="MONDO:equivalentTo"}
xref: GARD:5084 {source="MONDO:GARD"}
xref: ICD10CM:Q78.4 {source="Orphanet:3258/attributed", source="Orphanet:3258/ntbt", source="Orphanet:3258", source="DOID:0090015"}
xref: MEDGEN:395226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538150 {source="MONDO:equivalentTo"}
xref: OMIM:212780 {source="Orphanet:3258", source="MONDO:equivalentTo", source="DOID:0090015", source="Orphanet:3258/e"}
xref: Orphanet:3258 {source="OMIM:212780", source="MONDO:equivalentTo", source="DOID:0090015"}
xref: SCTID:720633009 {source="MONDO:equivalentTo"}
xref: UMLS:C1859309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395226"}
is_a: MONDO:0019054 {source="Orphanet:3258"} ! congenital limb malformation
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 {source="MONDO:mim2gene_medgen"} ! LRP4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008932
name: premature centromere division
synonym: "PCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212790]
synonym: "premature centromere division" EXACT [MONDO:Lexical, OMIM:212790]
synonym: "X-chromosome centromere peculiarity" RELATED [OMIM:212790]
xref: MEDGEN:349138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:212790 {source="MONDO:equivalentTo"}
xref: UMLS:C1859308 {source="MEDGEN:349138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008933
name: cephalin lipidosis
synonym: "cephalin lipidosis" EXACT [OMIM:212800]
xref: MEDGEN:395225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565872 {source="MONDO:equivalentTo"}
xref: OMIM:212800 {source="MONDO:equivalentTo"}
xref: UMLS:C1859307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395225"}
is_a: MONDO:0003847 {source="MESH:C565872/inferred"} ! hereditary disease

[Term]
id: MONDO:0008934
name: cerebellar ataxia-ectodermal dysplasia syndrome
def: "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." [Orphanet:1174]
subset: gard_rare {source="GARD:1189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1174"}
subset: ordo_malformation_syndrome {source="Orphanet:1174"}
subset: orphanet_rare {source="Orphanet:1174"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar ataxia - ectodermal dysplasia" RELATED [GARD:0001189]
synonym: "cerebellar ataxia and ectodermal dysplasia" RELATED [OMIM:212835]
synonym: "cerebellar ataxia ectodermal dysplasia" RELATED [GARD:0001189]
synonym: "ectodermal dysplasia and cerebellar ataxia" RELATED [GARD:0001189]
xref: GARD:1189 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:1174/attributed", source="Orphanet:1174/ntbt", source="Orphanet:1174"}
xref: MEDGEN:347850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535350 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="Orphanet:1174"}
xref: OMIM:212835 {source="Orphanet:1174/e", source="MONDO:equivalentTo", source="Orphanet:1174"}
xref: Orphanet:1174 {source="MONDO:equivalentTo", source="OMIM:212835"}
xref: SCTID:715371006 {source="MONDO:equivalentTo"}
xref: UMLS:C1859306 {source="MEDGEN:347850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C535350", source="Orphanet:1174"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0008935
name: cerebellar ataxia-hypogonadism syndrome
def: "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." [Orphanet:1173]
subset: gard_rare {source="GARD:3314", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1173"}
subset: orphanet_rare {source="Orphanet:1173"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar ataxia - hypogonadism" RELATED [GARD:0003314]
synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" RELATED [OMIM:212840]
synonym: "GDHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212840]
synonym: "Gordon Holmes syndrome" RELATED [MONDO:Lexical, OMIM:212840]
synonym: "Gordon-Holmes syndrome" EXACT [Orphanet:1173]
synonym: "LHRH deficiency and ataxia" RELATED [OMIM:212840]
synonym: "luteinizing hormone releasing hormone, deficiency of with ataxia" RELATED [GARD:0003314]
synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [Orphanet:1173]
synonym: "luteinizing hormone-releasing hormone, deficiency of, with ataxia" RELATED [OMIM:212840]
xref: DOID:0111587 {source="MONDO:equivalentTo"}
xref: GARD:3314 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:1173/attributed", source="Orphanet:1173/ntbt", source="Orphanet:1173"}
xref: MEDGEN:349137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565870 {source="MONDO:equivalentTo"}
xref: OMIM:212840 {source="Orphanet:1173/e", source="MONDO:equivalentTo", source="Orphanet:1173"}
xref: Orphanet:1173 {source="MONDO:equivalentTo", source="OMIM:212840"}
xref: UMLS:C1859305 {source="MEDGEN:349137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/834", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_subClassOf MONDO:0100309 {source="Orphanet:1173", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21698 {source="MONDO:mim2gene_medgen"} ! RNF216

[Term]
id: MONDO:0008936
name: cerebellar ataxia and neurosensory deafness
synonym: "cerebellar ataxia and neurosensory deafness" EXACT [OMIM:212850]
xref: MEDGEN:395224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565869 {source="MONDO:equivalentTo"}
xref: OMIM:212850 {source="MONDO:equivalentTo"}
xref: UMLS:C1859304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395224"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008937
name: cerebellar ataxia, benign, with thermoanalgesia
synonym: "cerebellar ataxia with loss of pain and temperature sensation" RELATED [OMIM:212890]
synonym: "cerebellar ataxia, benign, with thermoanalgesia" EXACT [OMIM:212890]
xref: MEDGEN:349136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565868 {source="MONDO:equivalentTo"}
xref: OMIM:212890 {source="MONDO:equivalentTo"}
xref: UMLS:C1859303 {source="MEDGEN:349136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008938
name: early-onset cerebellar ataxia with retained tendon reflexes
def: "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." [Orphanet:1177]
subset: gard_rare {source="GARD:2600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1177"}
subset: orphanet_rare {source="Orphanet:1177"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia, harding type" RELATED [GARD:0002600]
synonym: "cerebellar ataxia early onset with retained tendon reflex" RELATED [GARD:0002600]
synonym: "cerebellar ataxia, early-onset, with retained tendon reflexes" RELATED [MONDO:Lexical, OMIM:212895]
synonym: "EOCA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212895, Orphanet:1177]
synonym: "EOCARR" EXACT ABBREVIATION [Orphanet:1177]
synonym: "Harding ataxia" EXACT [Orphanet:1177]
xref: GARD:2600 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:1177/attributed", source="Orphanet:1177/ntbt", source="Orphanet:1177"}
xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535633 {source="Orphanet:1177", source="MONDO:equivalentTo", source="Orphanet:1177/e"}
xref: OMIM:212895 {source="Orphanet:1177", source="MONDO:equivalentTo", source="Orphanet:1177/e"}
xref: Orphanet:1177 {source="MONDO:equivalentTo", source="OMIM:212895"}
xref: SCTID:230228004 {source="MONDO:equivalentTo"}
xref: UMLS:C0393520 {source="MEDGEN:140726", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020046 {source="Orphanet:1177"} ! autosomal recessive degenerative and progressive cerebellar ataxia

[Term]
id: MONDO:0008939
name: isolated cerebellar hypoplasia/agenesis
def: "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." [NCIT:C98890]
subset: gard_rare {source="GARD:18720", source="MONDO:GARD"}
subset: nord_rare {source="NORD:910", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1398"}
subset: ordo_morphological_anomaly {source="Orphanet:1398"}
subset: orphanet_rare {source="Orphanet:1398"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cerebellar Agenesis" EXACT [NORD:910]
synonym: "cerebellar hypoplasia" RELATED [OMIM:213000]
synonym: "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" EXACT [OMIM:213000, OMIM:genemap2]
synonym: "Chiari 4 malformation" EXACT [Orphanet:1398]
synonym: "Chiari IV malformation" EXACT [Orphanet:1398]
synonym: "congenital cerebellar Hypoplasia" EXACT [NCIT:C98890]
synonym: "isolated cerebellar agenesis" RELATED [Orphanet:1398]
synonym: "near total absence of cerebellum" EXACT [Orphanet:1398]
synonym: "subtotal absence of cerebellum" EXACT [Orphanet:1398]
xref: DOID:0070338 {source="MONDO:equivalentTo"}
xref: GARD:18720 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:1398", source="Orphanet:1398/ntbt"}
xref: MedDRA:10008033 {source="Orphanet:1398", source="Orphanet:1398/e"}
xref: MEDGEN:1695950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562568 {source="MONDO:equivalentTo"}
xref: NCIT:C98890 {source="MONDO:equivalentTo"}
xref: NORD:910 {source="MONDO:NORD"}
xref: OMIM:213000 {source="MONDO:equivalentTo"}
xref: Orphanet:1398 {source="MONDO:equivalentTo"}
xref: Orphanet:2246 {source="OMIM:213000", source="MONDO:relatedTo"}
xref: SCTID:16026008 {source="MONDO:equivalentTo"}
xref: UMLS:C5231391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1695950"}
is_a: MONDO:0002320 {source="NCIT:C98890"} ! congenital nervous system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0008940
name: obsolete endosteal sclerosis-cerebellar hypoplasia syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4516" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013722

[Term]
id: MONDO:0008941
name: hepatic fibrosis-renal cysts-intellectual disability syndrome
def: "A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." [https://orcid.org/0000-0001-5208-3432, Orphanet:2031]
subset: gard_rare {source="GARD:5177", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2031"}
subset: ordo_malformation_syndrome {source="Orphanet:2031"}
subset: orphanet_rare {source="Orphanet:2031"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome" RELATED [OMIM:213010]
synonym: "Thompson Baraitser syndrome" EXACT [GARD:0005177]
synonym: "Thompson-Baraitser syndrome" EXACT [Orphanet:2031]
xref: GARD:5177 {source="MONDO:GARD"}
xref: MEDGEN:347120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565867 {source="MONDO:equivalentTo"}
xref: OMIM:213010 {source="Orphanet:2031/e", source="MONDO:equivalentTo", source="Orphanet:2031"}
xref: Orphanet:2031 {source="OMIM:213010", source="MONDO:equivalentTo"}
xref: UMLS:C1859300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347120"}
is_a: MONDO:0000001 {source="Orphanet:2031"} ! disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2031", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015508 {source="MONDO:Redundant", source="Orphanet:2031", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary parenchymatous liver disease
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:2031", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6000" xsd:anyURI

[Term]
id: MONDO:0008942
name: obsolete cerebelloparenchymal disorder II
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4411" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011781

[Term]
id: MONDO:0008943
name: autosomal recessive spinocerebellar ataxia 2
def: "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." [Orphanet:1170]
subset: gard_rare {source="GARD:1199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1170"}
subset: orphanet_rare {source="Orphanet:1170"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebelloparenchymal disorder type 3" RELATED [Orphanet:1170]
synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 2" EXACT [DOID:0080061, MONDORULE:1, Orphanet:1170]
synonym: "cerebellar granular cell hypoplasia and intellectual disability, congenital" RELATED [OMIM:213200]
synonym: "cerebellar granular cell hypoplasia and mental retardation, congenital" RELATED DEPRECATED [OMIM:213200]
synonym: "cerebellar hypoplasia, nonprogressive Norman type" RELATED [OMIM:213200]
synonym: "cerebelloparenchymal disorder 3" RELATED [OMIM:213200]
synonym: "CPD 3" RELATED [OMIM:213200]
synonym: "CPD3" RELATED ABBREVIATION [GARD:0001199]
synonym: "CPDIII" RELATED ABBREVIATION [GARD:0001199]
synonym: "PMPCA autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCAR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213200, Orphanet:1170]
synonym: "spinocerebellar ataxia, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:213200]
xref: DOID:0080061 {source="MONDO:equivalentTo"}
xref: GARD:1199 {source="MONDO:GARD"}
xref: ICD10CM:G11.0 {source="Orphanet:1170", source="Orphanet:1170/attributed", source="Orphanet:1170/ntbt"}
xref: MEDGEN:349134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565865 {source="MONDO:equivalentTo"}
xref: OMIM:213200 {source="Orphanet:1170/e", source="MONDO:equivalentTo", source="Orphanet:1170", source="DOID:0080061"}
xref: Orphanet:1170 {source="OMIM:213200", source="MONDO:equivalentTo"}
xref: SCTID:715369006 {source="MONDO:equivalentTo"}
xref: UMLS:C1859298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349134"}
is_a: MONDO:0020043 {source="MONDO:Redundant", source="Orphanet:1170"} ! autosomal recessive congenital cerebellar ataxia
intersection_of: MONDO:0020043 ! autosomal recessive congenital cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18667 ! PMPCA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18667 {source="MONDO:mim2gene_medgen"} ! PMPCA

[Term]
id: MONDO:0008944
name: Joubert syndrome 1
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cerebellooculorenal syndrome 1" RELATED [OMIM:213300]
synonym: "cerebellooculorenal syndrome 1" EXACT [DOID:0110980]
synonym: "cerebelloparenchymal disorder 4" RELATED [OMIM:213300]
synonym: "cerebelloparenchymal disorder IV" RELATED EXCLUDE [DOID:0110980]
synonym: "CORS1" EXACT ABBREVIATION [DOID:0110980]
synonym: "CPD4" EXACT ABBREVIATION [DOID:0110980]
synonym: "INPP5E Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS1" EXACT ABBREVIATION [DOID:0110980, MONDO:Lexical, OMIM:213300]
synonym: "Joubert syndrome" RELATED [OMIM:213300]
synonym: "Joubert syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:213300]
synonym: "Joubert syndrome caused by mutation in INPP5E" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 1" EXACT [DOID:0110980, MONDORULE:1, OMIM:213300]
synonym: "Joubert-Boltshauser syndrome" RELATED [OMIM:213300]
xref: DOID:0110980 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:213300 {source="MONDO:equivalentTo", source="DOID:0110980"}
xref: Orphanet:475 {source="OMIM:213300"}
xref: UMLS:C4551568 {source="MEDGEN:1644883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DC-OMIM:213300", source="DOID:0110980", source="MONDO:Redundant", source="OMIM:213300"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21474 ! INPP5E
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21474 {source="MONDO:mim2gene_medgen"} ! INPP5E

[Term]
id: MONDO:0008945
name: myoclonic cerebellar dyssynergia
def: "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" [MESH:D002527]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
subset: speculative
synonym: "cerebelloparenchymal disorder 5" RELATED [OMIM:213400]
synonym: "cerebelloparenchymal disorder type 5" EXACT [MONDORULE:1, OMIM:213400]
synonym: "cerebelloparenchymal disorder V" RELATED [MONDO:Lexical, OMIM:213400]
synonym: "CPD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:213400]
synonym: "dentate cerebellar ataxia" RELATED [GARD:0009256]
synonym: "dentatorubral atrophy" RELATED [GARD:0009256]
synonym: "dyssynergia cerebellaris myoclonica" EXACT [DOID:12707, https://www.ninds.nih.gov/Disorders/All-Disorders/Ramsay-Hunt-Syndrome-I-Information-Page]
synonym: "dyssynergia cerebellaris myoclonica of Hunt" RELATED [OMIM:213400]
synonym: "dyssynergia cerebellaris progressiva" RELATED [GARD:0009256]
synonym: "myoclonus and ataxia" EXACT [OMIM:159700]
synonym: "primary dentatum atrophy" RELATED [GARD:0009256]
synonym: "progressive cerebellar tremor" EXACT [DOID:12707]
synonym: "progressive myoclonus ataxia" RELATED [GARD:0009256]
synonym: "Ramsay Hunt cerebellar syndrome" RELATED [Wikipedia:Ramsay_Hunt_syndrome_type_1]
synonym: "Ramsay Hunt syndrome" RELATED DEPRECATED [OMIM:159700, Wikipedia:Ramsay_Hunt_syndrome]
synonym: "Ramsay Hunt syndrome type 1" RELATED DEPRECATED [OMIM:159700, Wikipedia:Ramsay_Hunt_syndrome]
synonym: "Ramsay Hunt syndrome type 1 (formerly)" RELATED [GARD:0009256]
synonym: "Spinodentate atrophy" RELATED [OMIM:213400]
xref: DOID:12707 {source="EFO:1001053", source="MONDO:equivalentTo"}
xref: EFO:1001053 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G11.1 {source="DOID:12707"}
xref: MEDGEN:483579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002527 {source="EFO:1001053", source="MONDO:equivalentTo", source="DOID:12707"}
xref: OMIM:159700 {source="MONDO:equivalentObsolete"}
xref: OMIM:213400 {source="MONDO:equivalentTo", source="DOID:12707"}
xref: SCTID:192871008 {source="DOID:12707"}
xref: SCTID:41009006 {source="DOID:12707"}
xref: SCTID:73495003 {source="MONDO:equivalentTo", source="DOID:12707"}
xref: UMLS:C3489626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483579"}
is_a: MONDO:0000114 {source="DC-OMIM:213400"} ! cerebelloparenchymal disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024237 {source="MESH:D002527/inferred"} ! inherited neurodegenerative disorder
relationship: disease_shares_features_of MONDO:0008945 ! myoclonic cerebellar dyssynergia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4429" xsd:anyURI

[Term]
id: MONDO:0008946
name: cerebral angiopathy, dysphoric
synonym: "cerebral angiopathy, dysphoric" EXACT [OMIM:213500]
xref: MEDGEN:349128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565864 {source="MONDO:equivalentTo"}
xref: OMIM:213500 {source="MONDO:equivalentTo"}
xref: UMLS:C1859283 {source="MEDGEN:349128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008947
name: bilateral striopallidodentate calcinosis
def: "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." [Orphanet:1980]
comment: Encompasses a range of disorders with different etiology, see https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-016-0693-1
subset: gard_rare {source="GARD:6406", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1127"}
subset: ordo_disorder {source="Orphanet:1980"}
subset: orphanet_rare {source="Orphanet:1980"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basal ganglia calcification" EXACT [MONDO:0000720]
synonym: "basal ganglia calcification, idiopathic" RELATED [OMIMPS:213600]
synonym: "basal ganglia degeneration with calcification" EXACT []
synonym: "BSPDC" EXACT ABBREVIATION [Orphanet:1980]
synonym: "cerebrovascular ferrocalcinosis" EXACT [Orphanet:1980]
synonym: "Fahr disease" NARROW DEPRECATED [DOID:0060230]
synonym: "idiopathic basal ganglia calcification" NARROW [Orphanet:1980]
synonym: "PFBC" EXACT ABBREVIATION [Orphanet:1980]
synonym: "Primary Familial Brain Calcification" EXACT [NORD:1127]
synonym: "primary familial brain calcification" EXACT [Orphanet:1980]
xref: DOID:0060230 {source="MONDO:equivalentTo"}
xref: GARD:6406 {source="MONDO:GARD"}
xref: HP:0002135 {source="DOID:0060230", source="MONDO:otherHierarchy"}
xref: ICD10CM:G23.8 {source="Orphanet:1980/ntbt", source="Orphanet:1980", source="Orphanet:1980/inclusion"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10059626 {source="Orphanet:1980", source="Orphanet:1980/e"}
xref: MESH:C536275 {source="DOID:0060230", source="MONDO:equivalentTo"}
xref: NANDO:1200207 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1127 {source="MONDO:NORD"}
xref: OMIMPS:213600 {source="MONDO:equivalentTo"}
xref: Orphanet:1980 {source="MONDO:equivalentTo", source="OMIM:213600"}
xref: SCTID:110997000 {source="DOID:0060230", source="MONDO:equivalentTo"}
xref: SCTID:230311004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
is_a: MONDO:0003996 {source="DOID:0060230", source="MESH:C536275"} ! basal ganglia disorder
is_a: MONDO:0015547 {source="Orphanet:1980"} ! hereditary dementia
relationship: disease_has_feature HP:0002135 ! Basal ganglia calcification
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:213600"} ! inherited

[Term]
id: MONDO:0008948
name: cerebrotendinous xanthomatosis
def: "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." [Orphanet:909]
subset: gard_rare {source="GARD:5622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:915"}
subset: ordo_disorder {source="Orphanet:909"}
subset: orphanet_rare {source="Orphanet:909"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral cholesterinosis" RELATED [OMIM:213700]
synonym: "cerebrotendinous xanthomatosis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:213700]
synonym: "cholestanol storage disease" EXACT [DOID:4810]
synonym: "CTx" EXACT [MONDO:Lexical, OMIM:213700, Orphanet:909]
synonym: "sterol 27-hydroxylase deficiency" EXACT [Orphanet:909]
xref: DOID:4810 {source="MONDO:equivalentTo"}
xref: GARD:5622 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="Orphanet:909/ntbt", source="Orphanet:909/inclusion", source="Orphanet:909"}
xref: MEDGEN:116041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019294 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="Orphanet:909"}
xref: NANDO:1200856 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84628 {source="MONDO:equivalentTo", source="DOID:4810"}
xref: NORD:915 {source="MONDO:NORD"}
xref: OMIM:213700 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="Orphanet:909"}
xref: Orphanet:909 {source="MONDO:equivalentTo", source="OMIM:213700"}
xref: SCTID:63246000 {source="MONDO:equivalentTo", source="DOID:4810"}
xref: UMLS:C0238052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116041"}
is_a: MONDO:0002615 {source="DOID:4810"} ! xanthomatosis
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0015905 {source="MONDO:Redundant", source="Orphanet:909"} ! syndromic dyslipidemia
is_a: MONDO:0019046 {source="Orphanet:909"} ! leukodystrophy
is_a: MONDO:0019256 ! sterol metabolism disorder
is_a: MONDO:0019296 {source="Orphanet:909"} ! subcutaneous tissue disorder
is_a: MONDO:0020044 {source="Orphanet:909"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0020143 {source="Orphanet:909"} ! cerebral lipidosis with dementia
relationship: disease_has_basis_in_disruption_of GO:0006699 ! bile acid biosynthetic process
relationship: disease_has_basis_in_disruption_of GO:0006707 ! cholesterol catabolic process
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2605 {source="MONDO:mim2gene_medgen"} ! CYP27A1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis" xsd:anyURI {source="GARD:0005622"}

[Term]
id: MONDO:0008949
name: cerebral malformation, seizures, hypertrichosis, and overlapping fingers
synonym: "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" EXACT [OMIM:213820]
synonym: "Muller Barth Menger syndrome" RELATED [GARD:0003812]
xref: MEDGEN:395211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537370 {source="MONDO:equivalentTo"}
xref: OMIM:213820 {source="MONDO:equivalentTo"}
xref: UMLS:C1859259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395211"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008950
name: cerebral sclerosis similar to Pelizaeus-Merzbacher disease
subset: gard_rare {source="GARD:7348", source="MONDO:GARD"}
subset: rare
synonym: "cerebral sclerosis similar to Pelizaeus-Merzbacher disease" EXACT [OMIM:213900]
xref: GARD:7348 {source="MONDO:GARD"}
xref: MEDGEN:395210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536318 {source="MONDO:equivalentTo"}
xref: OMIM:213900 {source="MONDO:equivalentTo"}
xref: Orphanet:702 {source="OMIM:213900"}
xref: UMLS:C1859258 {source="MEDGEN:395210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024237 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0010714 {source="Orphanet:702/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Pelizeaus-Merzbacher spectrum disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease" xsd:anyURI {source="GARD:0007348"}

[Term]
id: MONDO:0008951
name: cerebrocortical degeneration of infancy
synonym: "cerebrocortical degeneration of infancy" EXACT [OMIM:213950]
xref: MEDGEN:347837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565863 {source="MONDO:equivalentTo"}
xref: OMIM:213950 {source="MONDO:equivalentTo"}
xref: UMLS:C1859257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347837"}
is_a: MONDO:0003847 {source="MESH:C565863/inferred"} ! hereditary disease

[Term]
id: MONDO:0008952
name: obsolete cerebrofaciothoracic dysplasia
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0031329

[Term]
id: MONDO:0008953
name: peroxisome biogenesis disorder 1A (Zellweger)
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cerebrohepatorenal syndrome" RELATED [OMIM:214100]
synonym: "PBD1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214100]
synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:214100]
synonym: "peroxisome biogenesis disorder, complementation group 1" RELATED [OMIM:214100]
synonym: "peroxisome biogenesis disorder, complementation group E" RELATED [OMIM:214100]
synonym: "Zs" RELATED [OMIM:214100]
xref: DOID:0080476 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:214100 {source="MONDO:equivalentTo"}
xref: Orphanet:912 {source="OMIM:214100"}
xref: UMLS:C4721541 {source="MEDGEN:1648474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100259 {source="DC-OMIM:214100", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX1 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0008953/inferred", source="MONDO:Redundant", source="OMIM:214100", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8850 {source="MONDO:mim2gene_medgen"} ! PEX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0008954
name: peroxisome biogenesis disorder 2A (Zellweger)
subset: gard_rare {source="GARD:15149", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214110]
synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:214110]
synonym: "peroxisome biogenesis disorder, complementation group 2" RELATED [OMIM:214110]
xref: DOID:0080477 {source="MONDO:equivalentTo"}
xref: GARD:15149 {source="MONDO:GARD"}
xref: MEDGEN:763187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:214110 {source="MONDO:equivalentTo"}
xref: Orphanet:912 {source="OMIM:214110"}
xref: UMLS:C3550273 {source="MEDGEN:763187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100262 {source="DC-OMIM:214110", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX5 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0008954/inferred", source="MONDO:Redundant", source="OMIM:214110", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 {source="MONDO:mim2gene_medgen"} ! PEX5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0008955
name: cerebrooculofacioskeletal syndrome 1
def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebrooculofacioskeletal syndrome 1" EXACT [MONDO:Lexical, OMIM:214150]
synonym: "cerebrooculofacioskeletal syndrome type 1" EXACT [MONDORULE:1, OMIM:214150]
synonym: "COFS syndrome" BROAD [OMIM:214150]
synonym: "COFS syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern]
synonym: "COFS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:214150]
synonym: "ERCC6 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pena-Shokeir syndrome, type 2" RELATED [OMIM:214150]
xref: DOID:0080911 {source="MONDO:equivalentTo"}
xref: GARD:15150 {source="MONDO:GARD"}
xref: MEDGEN:66320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173085 {source="MONDO:equivalentTo"}
xref: OMIM:214150 {source="MONDO:equivalentTo"}
xref: Orphanet:1466 {source="OMIM:214150"}
xref: Orphanet:191 {source="OMIM:214150"}
xref: UMLS:C0220722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66320"}
is_a: MONDO:0008926 {source="DC-OMIM:214150", source="MONDO:Redundant", source="OMIM:214150"} ! COFS syndrome
intersection_of: MONDO:0008926 ! COFS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:214150"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6

[Term]
id: MONDO:0008956
name: obsolete congenital neuronal ceroid lipofuscinosis
comment: Terms were merged in OMIM.
xref: NANDO:1200151 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201240 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2665" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009744

[Term]
id: MONDO:0008957
name: cervical vertebrae, agenesis of
synonym: "cervical vertebrae, agenesis of" EXACT [OMIM:214290]
xref: MEDGEN:140922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562952 {source="MONDO:equivalentTo"}
xref: OMIM:214290 {source="MONDO:equivalentTo"}
xref: UMLS:C0432160 {source="MEDGEN:140922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008958
name: Klippel-Feil syndrome 2, autosomal recessive
def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cervical vertebral fusion, autosomal recessive" RELATED [OMIM:214300]
synonym: "isolated Klippel-Feil syndrome caused by mutation in MEOX1" EXACT [MONDO:design_pattern]
synonym: "Kfs, autosomal recessive" RELATED [OMIM:214300]
synonym: "KFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214300]
synonym: "Klippel-FEIL syndrome 2, autosomal recessive" RELATED [OMIM:214300]
synonym: "Klippel-Feil syndrome 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:214300]
synonym: "MEOX1 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080590 {source="MONDO:equivalentTo"}
xref: GARD:15151 {source="MONDO:GARD"}
xref: MEDGEN:395201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536888 {source="MONDO:equivalentTo"}
xref: OMIM:214300 {source="MONDO:equivalentTo"}
xref: Orphanet:2345 {source="OMIM:214300"}
xref: UMLS:C1859209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395201"}
is_a: MONDO:0001029 {source="MESH:C536888", source="MONDO:Redundant", source="OMIM:214300"} ! Klippel-Feil syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7013 {source="MONDO:mim2gene_medgen"} ! MEOX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0008959
name: CHAND syndrome
subset: gard_rare {source="GARD:1233", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1401"}
subset: orphanet_rare {source="Orphanet:1401"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHAND syndrome" EXACT [OMIM:214350]
synonym: "CHANDS" EXACT ABBREVIATION [OMIM:214350]
synonym: "curly hair-ankyloblepharon-nail dysplasia syndrome" RELATED [OMIM:214350]
xref: GARD:1233 {source="MONDO:GARD"}
xref: MEDGEN:98035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538074 {source="MONDO:equivalentTo"}
xref: OMIM:214350 {source="MONDO:equivalentTo"}
xref: Orphanet:1401 {source="OMIM:214350", source="MONDO:equivalentTo", source="MONDO:obsolete"}
xref: SCTID:239037001 {source="MONDO:equivalentTo"}
xref: UMLS:C0406733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98035"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008960
name: Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
def: "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." [Orphanet:90103]
subset: gard_rare {source="GARD:16786", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90103"}
subset: ordo_malformation_syndrome {source="Orphanet:90103"}
subset: orphanet_rare {source="Orphanet:90103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease and deafness" RELATED [OMIM:214370]
synonym: "Charcot-Marie-tooth disease-deafness-intellectual disability syndrome" NARROW [Orphanet:90103]
synonym: "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" EXACT [Orphanet:90103]
synonym: "deafness with Charcot-Marie-Tooth disease" RELATED [OMIM:214370]
synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers" EXACT [Orphanet:90103]
synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres" EXACT OMO:0003005 []
synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers" RELATED [OMIM:214370]
synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres" RELATED OMO:0003005 []
synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" RELATED DEPRECATED [OMIM:214370]
synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres" RELATED OMO:0003005 []
xref: GARD:16786 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:90103", source="Orphanet:90103/attributed", source="Orphanet:90103/ntbt"}
xref: MEDGEN:348419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:214370 {source="MONDO:equivalentTo", source="Orphanet:90103", source="Orphanet:90103/e"}
xref: Orphanet:90103 {source="MONDO:equivalentTo", source="OMIM:214370"}
xref: SCTID:715666007 {source="MONDO:equivalentTo"}
xref: UMLS:C1861669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348419"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:90103", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0008961
name: Charcot-Marie-Tooth disease type 4A
def: "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities." [Orphanet:99948]
subset: gard_rare {source="GARD:1252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99948"}
subset: orphanet_rare {source="Orphanet:99948"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" EXACT [DOID:0110185]
synonym: "Charcot Marie Tooth disease type 4A" RELATED [GARD:0001252]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive" RELATED [OMIM:214400]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" RELATED [OMIM:214400]
synonym: "Charcot-Marie-Tooth disease, type 4A" RELATED [MONDO:Lexical, OMIM:214400]
synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT [DOID:0110185]
synonym: "Charcot-Marie-Tooth neuropathy, type 4A" RELATED [OMIM:214400]
synonym: "CMT4A" EXACT ABBREVIATION [DOID:0110185, MONDO:Lexical, OMIM:214400, Orphanet:99948]
synonym: "GDAP1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110185 {source="MONDO:equivalentTo"}
xref: GARD:1252 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/attributed", source="Orphanet:99948/ntbt"}
xref: MEDGEN:347821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535419 {source="MONDO:equivalentTo", source="Orphanet:99948", source="Orphanet:99948/e"}
xref: OMIM:214400 {source="MONDO:equivalentTo", source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/e"}
xref: Orphanet:99948 {source="MONDO:equivalentTo", source="OMIM:214400", source="DOID:0110185"}
xref: SCTID:715796006 {source="MONDO:equivalentTo"}
xref: UMLS:C1859198 {source="MONDO:equivalentTo", source="MEDGEN:347821", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110185/inferred", source="MESH:C535419", source="MONDO:Redundant", source="OMIM:214400", source="Orphanet:99948/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110185", source="MONDO:Redundant", source="Orphanet:99948"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 ! GDAP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 {source="MONDO:mim2gene_medgen"} ! GDAP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a" xsd:anyURI {source="GARD:0001252"}

[Term]
id: MONDO:0008962
name: Griscelli syndrome type 1
def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2." [DOID:0060832, PMID:12452176, PMID:9207796]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2566", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79476"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Griscelli disease type 1" RELATED [Orphanet:79476]
synonym: "Griscelli syndrome type 1" EXACT CLINGEN_LABEL []
synonym: "Griscelli syndrome with neurologic impairment" RELATED [OMIM:214450]
synonym: "Griscelli syndrome with neurological impairment" EXACT [DOID:0060832]
synonym: "Griscelli syndrome, cutaneous and neurologic type" RELATED [OMIM:214450]
synonym: "Griscelli syndrome, cutaneous and neurological type" EXACT [DOID:0060832]
synonym: "Griscelli syndrome, type 1" RELATED [MONDO:Lexical, OMIM:214450]
synonym: "Griscelli-PruniC)ras syndrome type 1" EXACT [Orphanet:79476]
synonym: "Griscelli-Pruniéras syndrome type 1" EXACT [DOID:0060832]
synonym: "GS1" EXACT ABBREVIATION [DOID:0060832, MONDO:Lexical, OMIM:214450]
synonym: "hypopigmentation-neurologic impairment syndrome" EXACT [DOID:0060832, Orphanet:79476]
synonym: "partial albinism and primary neurologic disease without hemophagocytic syndrome" RELATED [OMIM:214450]
synonym: "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts" RELATED [GARD:0002566]
xref: DOID:0060832 {source="MONDO:equivalentTo"}
xref: GARD:2566 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060832", source="Orphanet:79476/attributed", source="Orphanet:79476/ntbt", source="Orphanet:79476"}
xref: MEDGEN:347092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537301 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"}
xref: OMIM:214450 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"}
xref: Orphanet:381 {source="OMIM:214450"}
xref: Orphanet:79476 {source="OMIM:214450", source="MONDO:equivalentTo", source="DOID:0060832"}
xref: UMLS:C1859194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347092"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0018306 {source="DC-OMIM:214450", source="DOID:0060832", source="MONDO:Redundant", source="OMIM:214450", source="Orphanet:79476"} ! Griscelli syndrome
intersection_of: MONDO:0018306 ! Griscelli syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7602 ! MYO5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7602 {source="MONDO:mim2gene_medgen"} ! MYO5A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1" xsd:anyURI {source="GARD:0002566"}

[Term]
id: MONDO:0008963
name: Chediak-Higashi syndrome
def: "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." [Orphanet:167]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6035", source="MONDO:GARD"}
subset: nord_rare {source="NORD:921", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:167"}
subset: orphanet_rare {source="Orphanet:167"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ChC)diak-Higashi disease" EXACT [Orphanet:167]
synonym: "ChC)diak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167]
synonym: "Chediak - Steinbrinck anomaly" EXACT [DOID:2935]
synonym: "Chediak Higashi Syndrome" EXACT [NORD:921]
synonym: "Chediak Higashi syndrome" EXACT [GARD:0006035]
synonym: "Chediak-Higashi syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:214500]
synonym: "CHS" EXACT ABBREVIATION [DOID:2935, MONDO:Lexical, OMIM:214500]
synonym: "Chédiak-Higashi disease" EXACT [Orphanet:167]
synonym: "Chédiak-Higashi syndrome" EXACT [Orphanet:167]
synonym: "Chédiak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167]
xref: DOID:2935 {source="MONDO:equivalentTo"}
xref: GARD:6035 {source="MONDO:GARD"}
xref: ICD10CM:D72.0 {source="DOID:2935"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:167/ntbt", source="Orphanet:167/inclusion", source="Orphanet:167"}
xref: ICD10CM:E70.330 {source="MONDO:equivalentTo", source="DOID:2935"}
xref: MedDRA:10008415 {source="Orphanet:167/e", source="Orphanet:167"}
xref: MEDGEN:3347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002609 {source="Orphanet:167/e", source="MONDO:equivalentTo", source="DOID:2935", source="Orphanet:167"}
xref: NANDO:1200350 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200639 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200724 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2941 {source="MONDO:equivalentTo", source="DOID:2935"}
xref: NORD:921 {source="MONDO:NORD"}
xref: OMIM:214500 {source="Orphanet:167/e", source="MONDO:equivalentTo", source="DOID:2935", source="Orphanet:167"}
xref: Orphanet:167 {source="MONDO:equivalentTo", source="OMIM:214500", source="DOID:2935"}
xref: SCTID:111396008 {source="MONDO:equivalentTo", source="DOID:2935"}
xref: SCTID:123309000 {source="DOID:2935"}
xref: SCTID:190696004 {source="DOID:2935"}
xref: SCTID:191356000 {source="DOID:2935"}
xref: UMLS:C0007965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3347"}
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0005093 ! skin disorder
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis
is_a: MONDO:0017305 {source="Orphanet:167"} ! syndromic oculocutaneous albinism
is_a: MONDO:0017739 {source="Orphanet:167"} ! disorder of lysosomal-related organelles
is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:167"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1968 {source="MONDO:mim2gene_medgen"} ! LYST
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome" xsd:anyURI {source="GARD:0006035"}

[Term]
id: MONDO:0008964
name: congenital secretory chloride diarrhea 1
def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10001", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53689"}
subset: orphanet_rare {source="Orphanet:53689"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chloride diarrhea, congenital, Finnish type" RELATED [OMIM:214700]
synonym: "Chloridorrhea, congenital" RELATED [OMIM:214700]
synonym: "CLD" RELATED ABBREVIATION [GARD:0010001]
synonym: "congenital chloride diarrhea" RELATED [Orphanet:53689]
synonym: "congenital chloride diarrhea Finnish type" EXACT [DOID:0060296]
synonym: "congenital chloride diarrhoea" RELATED OMO:0003005 []
synonym: "congenital chloride diarrhoea Finnish type" EXACT OMO:0003005 []
synonym: "congenital chloridorrhea" EXACT [DOID:0060296, Wikipedia:Congenital_chloride_diarrhea]
synonym: "congenital secretory chloride diarrhea type 1" EXACT [DOID:0060296, MONDORULE:1]
synonym: "congenital secretory chloride diarrhoea type 1" EXACT OMO:0003005 []
synonym: "Darrow-gamble disease" RELATED [GARD:0010001]
synonym: "DIAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214700]
synonym: "diarrhea 1, secretory chloride, congenital" RELATED [MONDO:Lexical, OMIM:214700]
synonym: "diarrhoea 1, secretory chloride, congenital" RELATED OMO:0003005 []
synonym: "familial chloride diarrhea" RELATED [GARD:0010001]
synonym: "familial chloride diarrhoea" RELATED OMO:0003005 []
synonym: "secretory diarrhea caused by mutation in SLC26A3" EXACT [MONDO:design_pattern]
synonym: "secretory diarrhoea caused by mutation in SLC26A3" EXACT OMO:0003005 []
synonym: "SLC26A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SLC26A3 secretory diarrhoea" EXACT OMO:0003005 []
xref: DOID:0060296 {source="MONDO:equivalentTo"}
xref: GARD:10001 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="Orphanet:53689/attributed", source="Orphanet:53689/ntbt", source="Orphanet:53689"}
xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536210 {source="DOID:0060296", source="Orphanet:53689", source="MONDO:equivalentTo", source="Orphanet:53689/e"}
xref: OMIM:214700 {source="DOID:0060296", source="Orphanet:53689", source="MONDO:equivalentTo", source="Orphanet:53689/e"}
xref: Orphanet:53689 {source="DOID:0060296", source="MONDO:equivalentTo", source="OMIM:214700"}
xref: SCTID:24412005 {source="DOID:0060296", source="MONDO:equivalentTo"}
xref: UMLS:C0267662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78631"}
is_a: MONDO:0000249 {source="DOID:0060296"} ! secretory diarrhea
is_a: MONDO:0000824 {source="DC-OMIM:214700", source="OMIM:214700"} ! congenital diarrhea
intersection_of: MONDO:0000249 ! secretory diarrhea
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3018 ! SLC26A3
relationship: disease_has_basis_in_disruption_of GO:0015108 ! chloride transmembrane transporter activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3018 {source="MONDO:mim2gene_medgen"} ! SLC26A3

[Term]
id: MONDO:0008965
name: CHARGE syndrome
def: "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." [Orphanet:138]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:29", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:920"}
subset: ordo_disorder {source="Orphanet:138"}
subset: ordo_malformation_syndrome {source="Orphanet:138"}
subset: orphanet_rare {source="Orphanet:138"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHARGE association" EXACT [DOID:0050834, GARD:0000029, Orphanet:138]
synonym: "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies" RELATED [OMIM:214800]
synonym: "CHARGE syndrome" EXACT CLINGEN_LABEL [OMIM:214800]
synonym: "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies" RELATED [GARD:0000029]
synonym: "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association" EXACT [NCIT:C75100]
synonym: "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association" EXACT [NCIT:C75100]
synonym: "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome" EXACT [Orphanet:138]
synonym: "Hall-Hittner syndrome" EXACT [GARD:0000029, OMIM:214800, Orphanet:138]
xref: DOID:0050834 {source="MONDO:equivalentTo"}
xref: GARD:29 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:138/attributed", source="Orphanet:138/ntbt", source="Orphanet:138"}
xref: ICD10CM:Q89.8 {source="DOID:0050834"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10064063 {source="Orphanet:138", source="Orphanet:138/e"}
xref: MEDGEN:75567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058747 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="Orphanet:138/e"}
xref: NANDO:1200464 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200972 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75100 {source="MONDO:equivalentTo", source="DOID:0050834"}
xref: NORD:920 {source="MONDO:NORD"}
xref: OMIM:214800 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="Orphanet:138/e"}
xref: Orphanet:138 {source="MONDO:equivalentTo", source="DOID:0050834", source="GARD:0000029", source="OMIM:214800"}
xref: SCTID:394529000 {source="DOID:0050834"}
xref: SCTID:47535005 {source="MONDO:equivalentTo", source="DOID:0050834"}
xref: UMLS:C0265354 {source="MEDGEN:75567", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0050834", source="MONDO:Redundant", source="NCIT:C75100"} ! syndromic disease
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015160 {source="Orphanet:138"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:138", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:138", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0008966
name: Aagenaes syndrome
def: "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." [Orphanet:1414]
subset: gard_rare {source="GARD:370", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1414"}
subset: orphanet_rare {source="Orphanet:1414"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aagenaes syndrome" EXACT [OMIM:214900, Orphanet:1414]
synonym: "Chls" RELATED [OMIM:214900]
synonym: "cholestasis lymphedema syndrome" RELATED [GARD:0000370]
synonym: "cholestasis-edema syndrome, Norwegian type" EXACT [DOID:6691]
synonym: "cholestasis-lymphedema syndrome" RELATED [OMIM:214900]
synonym: "LCS" RELATED ABBREVIATION [GARD:0000370]
synonym: "LCS1" RELATED ABBREVIATION [GARD:0000370]
synonym: "lymphedema cholestasis syndrome" RELATED [GARD:0000370]
synonym: "lymphedema-cholestasis syndrome" RELATED [OMIM:214900]
xref: DOID:6691 {source="MONDO:equivalentTo"}
xref: GARD:370 {source="MONDO:GARD"}
xref: ICD10CM:Q82.0 {source="MONDO:relatedTo", source="Orphanet:1414", source="Orphanet:1414/attributed", source="Orphanet:1414/ntbt"}
xref: ICD9:576.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535330 {source="MONDO:equivalentTo", source="DOID:6691"}
xref: NCIT:C35709 {source="MONDO:equivalentTo", source="DOID:6691"}
xref: OMIM:214900 {source="MONDO:equivalentTo", source="Orphanet:1414", source="DOID:6691", source="Orphanet:1414/e"}
xref: Orphanet:1414 {source="MONDO:equivalentTo", source="DOID:6691", source="OMIM:214900"}
xref: SCTID:28724005 {source="MONDO:equivalentTo", source="DOID:6691"}
xref: UMLS:C0268314 {source="MEDGEN:78658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:6691", source="MONDO:Redundant", source="NCIT:C35709"} ! syndromic disease
is_a: MONDO:0005154 {source="Orphanet:1414", source="Orphanet:1414/inferred"} ! liver disorder
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
relationship: disease_has_feature HP:0001004 ! Lymphedema
relationship: disease_has_feature HP:0001394 ! Cirrhosis
relationship: disease_has_feature HP:0001396 ! Cholestasis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015507"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome" xsd:anyURI {source="GARD:0000370"}

[Term]
id: MONDO:0008967
name: congenital bile acid synthesis defect 4
def: "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." [Orphanet:79095]
subset: gard_rare {source="GARD:10046", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79095"}
subset: orphanet_rare {source="Orphanet:79095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2-methylacyl-CoA racemase deficiency" EXACT [Orphanet:79095]
synonym: "Alpha-methyl-acyl-CoA racemase deficiency" EXACT [Orphanet:79095]
synonym: "AMACR deficiency" BROAD [Orphanet:79095]
synonym: "BAS defect type 4" EXACT [Orphanet:79095]
synonym: "BASD4" EXACT ABBREVIATION [Orphanet:79095]
synonym: "bile acid synthesis defect, congenital, 4" RELATED [MONDO:Lexical, OMIM:214950]
synonym: "bile acid synthesis defect, congenital, type 4" EXACT [MONDORULE:1, OMIM:214950]
synonym: "CBAS4" EXACT ABBREVIATION [DOID:0111068, MONDO:Lexical, OMIM:214950]
synonym: "cholestasis, intrahepatic, with defective conversion of" RELATED [GARD:0010046]
synonym: "cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid" RELATED [OMIM:214950]
synonym: "congenital bile acid synthesis defect 4" EXACT CLINGEN_LABEL [Orphanet:79095]
synonym: "congenital bile acid synthesis defect type 4" EXACT [DOID:0111068, MONDORULE:1]
synonym: "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT [DOID:0111068]
synonym: "liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome" EXACT [Orphanet:79095]
synonym: "Trihydroxycoprostanic acid in bile" RELATED [OMIM:214950]
synonym: "trihydroxycoprostanic acid in bile" EXACT [DOID:0111068]
synonym: "Trihydroxycoprostanic acid to cholic acid" RELATED [GARD:0010046]
xref: DOID:0111068 {source="MONDO:equivalentTo"}
xref: GARD:10046 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/attributed", source="Orphanet:79095/ntbt"}
xref: MEDGEN:388039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535444 {source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"}
xref: OMIM:214950 {source="MONDO:equivalentTo", source="Orphanet:79095", source="DOID:0111068", source="Orphanet:79095/e"}
xref: Orphanet:79095 {source="MONDO:equivalentTo", source="OMIM:214950", source="DOID:0111068"}
xref: UMLS:C1858328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388039"}
is_a: MONDO:0013681 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! alpha-methylacyl-CoA racemase deficiency
is_a: MONDO:0018841 {source="DC-OMIM:214950", source="DOID:0111068", source="OMIM:214950", source="Orphanet:79095"} ! congenital bile acid synthesis defect
relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:79095", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/451 {source="MONDO:mim2gene_medgen"} ! AMACR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1196" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4" xsd:anyURI {source="GARD:0010046"}

[Term]
id: MONDO:0008968
name: cholestasis with gallstone, ataxia, and visual disturbance
synonym: "cholestasis with gallstone, ataxia, and visual disturbance" EXACT [OMIM:214980]
xref: MEDGEN:347812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565856 {source="MONDO:equivalentTo"}
xref: OMIM:214980 {source="MONDO:equivalentTo"}
xref: UMLS:C1859161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347812"}
is_a: MONDO:0003847 {source="MESH:C565856/inferred"} ! hereditary disease

[Term]
id: MONDO:0008969
name: cholesterol pneumonia
synonym: "cholesterol pneumonia" EXACT [OMIM:215030]
synonym: "familiaere cholesterin-Pneumonie" RELATED [GARD:0008500]
xref: ICD9:516.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:154291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535937 {source="MONDO:equivalentTo"}
xref: OMIM:215030 {source="MONDO:equivalentTo"}
xref: SCTID:233728004 {source="MONDO:equivalentTo"}
xref: UMLS:C0549472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154291"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8500/cholesterol-pneumonia" xsd:anyURI {source="GARD:0008500"}

[Term]
id: MONDO:0008970
name: chondrodysplasia Blomstrand type
def: "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." [Orphanet:50945]
subset: gard_rare {source="GARD:914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50945"}
subset: ordo_malformation_syndrome {source="Orphanet:50945"}
subset: orphanet_rare {source="Orphanet:50945"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BLC" EXACT ABBREVIATION [Orphanet:50945]
synonym: "Blomstrand chondrodysplasia" EXACT [Orphanet:50945]
synonym: "Blomstrand lethal chondrodysplasia" EXACT [DOID:0060387]
synonym: "Blomstrand lethal osteochondrodysplasia" RELATED [GARD:0000914]
synonym: "Blomstrand osteochondrodysplasia" EXACT [Orphanet:50945]
synonym: "Blomstrand type chondrodysplasia" EXACT [NCIT:C131420]
synonym: "Blomstrand's lethal chondrodysplasia" RELATED [GARD:0000914]
synonym: "BOCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215045, Orphanet:50945]
synonym: "chondrodysplasia, Blomstrand type" EXACT [MONDO:Lexical, OMIM:215045, Orphanet:50945]
xref: DOID:0060387 {source="MONDO:equivalentTo"}
xref: GARD:914 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:50945", source="Orphanet:50945/attributed", source="Orphanet:50945/ntbt"}
xref: MEDGEN:395189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537914 {source="Orphanet:50945/e", source="DOID:0060387", source="MONDO:equivalentTo", source="Orphanet:50945"}
xref: NCIT:C131420 {source="MONDO:equivalentTo"}
xref: OMIM:215045 {source="Orphanet:50945/e", source="DOID:0060387", source="MONDO:equivalentTo", source="Orphanet:50945"}
xref: Orphanet:50945 {source="DOID:0060387", source="OMIM:215045", source="MONDO:equivalentTo"}
xref: UMLS:C1859148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395189"}
is_a: MONDO:0005516 {source="DOID:0060387", source="MESH:C537914", source="MESH:C537914/inferred", source="NCIT:C131420"} ! osteochondrodysplasia
is_a: MONDO:0019702 {source="Orphanet:50945", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9608 {source="MONDO:mim2gene_medgen"} ! PTH1R
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type" xsd:anyURI {source="GARD:0000914"}

[Term]
id: MONDO:0008971
name: chondrodysplasia calcificans Metaphysealis
subset: gard_rare {source="GARD:10613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chondrodysplasia calcificans Metaphysealis" EXACT [OMIM:215050]
xref: GARD:10613 {source="MONDO:GARD"}
xref: MEDGEN:347809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565855 {source="MONDO:equivalentTo"}
xref: OMIM:215050 {source="MONDO:equivalentTo"}
xref: UMLS:C1859147 {source="MEDGEN:347809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565855/inferred"} ! hereditary disease
is_a: MONDO:0009943 ! Pyle disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis" xsd:anyURI {source="GARD:0010613"}

[Term]
id: MONDO:0008972
name: rhizomelic chondrodysplasia punctata type 1
def: "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause." [https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1]
subset: gard_rare {source="GARD:6049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:309789"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309789"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia punctata, rhizomelic form" RELATED [OMIM:215100]
synonym: "chondrodystrophia calcificans punctata" RELATED [OMIM:215100]
synonym: "Pbd9" EXACT [DOID:0110851]
synonym: "peroxisome biogenesis disorder 9" EXACT [DOID:0110851, OMIM:215100]
synonym: "PEX7 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCDP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215100]
synonym: "Rcdp1" EXACT [DOID:0110851]
synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX7" EXACT [MONDO:design_pattern]
synonym: "rhizomelic chondrodysplasia punctata type 1" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "rhizomelic chondrodysplasia punctata, type 1" EXACT [MONDO:Lexical, OMIM:215100]
xref: DOID:0110851 {source="MONDO:equivalentTo"}
xref: GARD:6049 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:309789/attributed", source="Orphanet:309789/ntbt", source="DOID:0110851", source="Orphanet:309789"}
xref: MEDGEN:347072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200763 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:215100 {source="Orphanet:309789/e", source="MONDO:equivalentTo", source="DOID:0110851", source="Orphanet:309789"}
xref: Orphanet:177 {source="OMIM:215100"}
xref: Orphanet:309789 {source="OMIM:215100", source="MONDO:equivalentTo", source="DOID:0110851"}
xref: UMLS:C1859133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347072"}
is_a: MONDO:0015776 {source="DOID:0110851", source="MONDO:Redundant", source="OMIM:215100", source="Orphanet:309789"} ! rhizomelic chondrodysplasia punctata
is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata
is_a: MONDO:0100272 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX7 defect
intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 ! PEX7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 {source="MONDO:mim2gene_medgen"} ! PEX7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1" xsd:anyURI {source="GARD:0006049"}

[Term]
id: MONDO:0008973
name: chondrodysplasia punctata, Toriello type
def: "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported." [Orphanet:79347]
subset: gard_rare {source="GARD:16716", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79347"}
subset: ordo_malformation_syndrome {source="Orphanet:79347"}
subset: orphanet_rare {source="Orphanet:79347"}
subset: rare
synonym: "chondrodysplasia punctata syndrome" RELATED [OMIM:215105]
synonym: "Toriello-Higgins-Miller syndrome" EXACT [Orphanet:79347]
xref: GARD:16716 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:79347", source="Orphanet:79347/attributed", source="Orphanet:79347/ntbt"}
xref: MEDGEN:347071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565853 {source="MONDO:equivalentTo"}
xref: OMIM:215105 {source="Orphanet:79347", source="MONDO:equivalentTo", source="Orphanet:79347/e"}
xref: Orphanet:79347 {source="MONDO:equivalentTo", source="OMIM:215105"}
xref: SCTID:715631005 {source="MONDO:equivalentTo"}
xref: UMLS:C1859132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347071"}
is_a: MONDO:0015775 {source="Orphanet:79347"} ! non-rhizomelic chondrodysplasia punctata

[Term]
id: MONDO:0008974
name: Greenberg dysplasia
def: "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." [Orphanet:1426]
subset: gard_rare {source="GARD:8754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1426"}
subset: orphanet_rare {source="Orphanet:1426"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" RELATED [GARD:0008754]
synonym: "chondrodystrophy, hydropic and prenatally lethal type" RELATED [OMIM:215140]
synonym: "GRBGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215140]
synonym: "Greenberg dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:215140]
synonym: "Greenberg skeletal dysplasia" RELATED [GARD:0008754]
synonym: "hem" RELATED [GARD:0008754]
synonym: "hem dysplasia" EXACT [Orphanet:1426]
synonym: "hem skeletal dysplasia" RELATED [OMIM:215140]
synonym: "hem/Greenberg dysplasia" RELATED [GARD:0008754]
synonym: "hydrops, ectopic calcification, moth-eaten skeletal dysplasia" RELATED [GARD:0008754]
synonym: "hydrops-ectopic calcification-moth-eaten skeletal dysplasia" RELATED [OMIM:215140]
synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [Orphanet:1426]
synonym: "moth-eaten skeletal dysplasia" RELATED [OMIM:215140]
synonym: "skeletal dysplasia, Greenberg type" EXACT [Orphanet:1426]
xref: DOID:0111588 {source="MONDO:equivalentTo"}
xref: GARD:8754 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:1426", source="Orphanet:1426/attributed", source="Orphanet:1426/ntbt"}
xref: MEDGEN:418969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535858 {source="MONDO:equivalentTo"}
xref: MESH:C537299 {source="Orphanet:1426", source="Orphanet:1426/e"}
xref: NANDO:2201361 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:215140 {source="MONDO:equivalentTo", source="Orphanet:1426", source="Orphanet:1426/e"}
xref: Orphanet:1426 {source="MONDO:equivalentTo", source="OMIM:215140"}
xref: SCTID:389261002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931048 {source="MONDO:equivalentTo", source="MEDGEN:418969", source="MONDO:MEDGEN"}
is_a: MONDO:0019240 {source="Orphanet:1426"} ! sterol biosynthesis disorder
is_a: MONDO:0019701 {source="Orphanet:1426", source="PMID:31633310"} ! chondrodysplasia punctata
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6518 {source="MONDO:mim2gene_medgen"} ! LBR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia" xsd:anyURI {source="GARD:0008754"}

[Term]
id: MONDO:0008975
name: otospondylomegaepiphyseal dysplasia
def: "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies." [Orphanet:1427]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4130", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1427"}
subset: orphanet_rare {source="Orphanet:1427"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodystrophy with sensorineural deafness" EXACT [DOID:0080026]
synonym: "Insley-Astley syndrome" RELATED [GARD:0004130]
synonym: "Nance Sweeney chondrodysplasia" RELATED [GARD:0004130]
synonym: "Nance-Insley syndrome" EXACT [DOID:0080026]
synonym: "Nance-Sweeney chondrodysplasia" EXACT [DOID:0080026]
synonym: "OSMED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215150, Orphanet:1427]
synonym: "OSMED syndrome" RELATED [GARD:0004130]
synonym: "oto-spondylo-mega-epiphyseal dysplasia" RELATED [GARD:0004130]
synonym: "otospondylmegaepiphyseal dysplasia" EXACT [OMIMPS:184840]
synonym: "otospondylomegaepiphyseal dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:215150]
xref: DOID:0080026 {source="MONDO:equivalentTo"}
xref: GARD:4130 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:1427/attributed", source="Orphanet:1427/ntbt", source="Orphanet:1427"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1617409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:184840 {source="MONDO:equivalentTo"}
xref: Orphanet:1427 {source="MONDO:equivalentTo", source="OMIM:215150"}
xref: SCTID:254060000 {source="MONDO:equivalentTo"}
xref: UMLS:C4520892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617409"}
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0005516 {source="DOID:0080026", source="OMIM:215150", source="OMIM:215150/inferred"} ! osteochondrodysplasia
is_a: MONDO:0016761 {source="Orphanet:1427"} ! spondyloepiphyseal dysplasia
relationship: disease_has_feature HP:0000926 ! Platyspondyly
relationship: excluded_subClassOf MONDO:0019686 {source="Orphanet:1427", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete type 2 collagen-related bone disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:184840"} ! inherited

[Term]
id: MONDO:0008976
name: chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
synonym: "chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome" EXACT [OMIM:215250]
xref: MEDGEN:349095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565852 {source="MONDO:equivalentTo"}
xref: OMIM:215250 {source="MONDO:equivalentTo"}
xref: UMLS:C1859104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349095"}
is_a: MONDO:0003847 {source="MESH:C565852/inferred"} ! hereditary disease

[Term]
id: MONDO:0008977
name: chondrosarcoma
def: "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." [NCIT:C2946]
subset: gard_rare {source="GARD:6055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:55880"}
subset: orphanet_rare {source="Orphanet:55880"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrosarcoma" EXACT [MONDO:ambiguous, NCIT:C2946, OMIM:215300]
synonym: "chondrosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "chondrosarcoma of bone" NARROW [DOID:3371]
synonym: "chondrosarcoma, malignant" EXACT [NCIT:C2946]
synonym: "chondrosarcoma, somatic mutation" EXACT [OMIM:215300, OMIM:genemap2]
synonym: "primary chondrosarcoma of the bone" RELATED [DOID:3371]
xref: DOID:3371 {source="MONDO:equivalentTo", source="EFO:0000333"}
xref: EFO:0000333 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6055 {source="MONDO:GARD"}
xref: HP:0006765 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C49.9 {source="Orphanet:55880/ntbt", source="Orphanet:55880"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9220/3 {source="NCIT:C2946"}
xref: MedDRA:10008734 {source="Orphanet:55880/e", source="Orphanet:55880"}
xref: MEDGEN:3054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002813 {source="Orphanet:55880/e", source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371", source="Orphanet:55880"}
xref: NANDO:2200050 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2946 {source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371"}
xref: OMIM:215300 {source="Orphanet:55880/e", source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371", source="Orphanet:55880"}
xref: ONCOTREE:CHS {source="MONDO:equivalentTo"}
xref: Orphanet:55880 {source="OMIM:215300", source="MONDO:equivalentTo"}
xref: SCTID:14990007 {source="DOID:3371"}
xref: SCTID:189886003 {source="DOID:3371"}
xref: SCTID:443520009 {source="MONDO:equivalentTo", source="EFO:0000333", source="DOID:3371"}
xref: UMLS:C0008479 {source="MEDGEN:3054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="EFO:0000333", source="MESH:D002813", source="MONDO:Redundant", source="NCIT:C2946"} ! sarcoma
is_a: MONDO:0021581 {source="MESH:D002813", source="MONDO:indirect"} ! connective tissue neoplasm
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_arises_from_structure CL:0000138 ! chondrocyte
relationship: disease_arises_from_structure CL:0000138 {source="NCIT:C2946"} ! chondrocyte
relationship: excluded_subClassOf MONDO:0021054 {source="Orphanet:55880", source="https://orcid.org/0000-0001-5208-3432"} ! bone sarcoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3512 {source="MONDO:mim2gene_medgen"} ! EXT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "chondrosarcoma (disease)" xsd:string

[Term]
id: MONDO:0008978
name: chordoma
def: "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." [Orphanet:178]
subset: gard_rare {source="GARD:1303", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:931"}
subset: ordo_disorder {source="Orphanet:178"}
subset: orphanet_rare {source="Orphanet:178"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215400]
synonym: "chordoma" EXACT [MONDO:ambiguous, NCIT:C2947]
synonym: "chordoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "chordoma, malignant" EXACT [NCIT:C2947]
synonym: "chordoma, susceptibility to" RELATED [MONDO:Lexical, OMIM:215400]
synonym: "notochordal sarcoma" EXACT [Orphanet:178]
synonym: "notochordoma" EXACT [DOID:3302]
synonym: "susceptibility to chordoma" RELATED [OMIM:215400]
xref: DOID:3302 {source="MONDO:equivalentTo"}
xref: GARD:1303 {source="MONDO:GARD"}
xref: HP:0010762 {source="MONDO:otherHierarchy"}
xref: ICDO:9370/3 {source="NCIT:C2947"}
xref: MedDRA:10008747 {source="Orphanet:178/e", source="Orphanet:178"}
xref: MEDGEN:40277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002817 {source="DOID:3302", source="Orphanet:178/e", source="MONDO:equivalentTo", source="Orphanet:178"}
xref: NANDO:2200098 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2947 {source="DOID:3302", source="MONDO:equivalentTo"}
xref: NORD:931 {source="MONDO:NORD"}
xref: OMIM:215400 {source="DOID:3302", source="Orphanet:178/e", source="MONDO:equivalentTo", source="Orphanet:178"}
xref: ONCOTREE:CHDM {source="MONDO:equivalentTo"}
xref: Orphanet:178 {source="OMIM:215400", source="MONDO:equivalentTo"}
xref: SCTID:50007008 {source="DOID:3302"}
xref: UMLS:C0008487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40277"}
is_a: MONDO:0002597 {source="DOID:3302", source="NCIT:C2947"} ! notochordal tumor
relationship: excluded_subClassOf MONDO:0015959 {source="Orphanet:178", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited syndrome with bone tumors as a major feature
relationship: excluded_subClassOf MONDO:0019833 {source="Orphanet:178", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pituitary hormone deficiency from tumoral origin
property_value: IAO:0000589 "chordoma (disease)" xsd:string

[Term]
id: MONDO:0008979
name: chorea, benign familial
def: "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion." [GARD:0001305]
subset: gard_rare {source="GARD:1305", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign hereditary chorea" RELATED [GARD:0001305]
synonym: "chorea familial benign" RELATED [GARD:0001305]
synonym: "chorea, benign familial" EXACT [OMIM:215450]
xref: GARD:1305 {source="MONDO:GARD"}
xref: MEDGEN:347799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565851 {source="MONDO:equivalentTo"}
xref: OMIM:215450 {source="MONDO:equivalentTo"}
xref: Orphanet:1429 {source="OMIM:215450", source="GARD:0001305"}
xref: UMLS:C1859098 {source="MONDO:equivalentTo", source="MEDGEN:347799", source="MONDO:MEDGEN"}
is_a: MONDO:0001595 {source="MESH:C565851", source="Orphanet:1429/btnt"} ! choreatic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea" xsd:anyURI {source="GARD:0001305"}

[Term]
id: MONDO:0008980
name: ataxia-hypogonadism-choroidal dystrophy syndrome
def: "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome." [Orphanet:1180]
subset: gard_rare {source="GARD:944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1180"}
subset: orphanet_rare {source="Orphanet:1180"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia - hypogonadism - choroidal dystrophy" RELATED [GARD:0000944]
synonym: "BNHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215470]
synonym: "Boucher-Neuhauser syndrome" EXACT [MONDO:Lexical, OMIM:215470]
synonym: "Boucher-Neuhchäuser syndrome" EXACT [Orphanet:1180]
synonym: "Boucher-Neuhäuser syndrome" EXACT [Orphanet:1180]
synonym: "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism" EXACT [GARD:0000944]
synonym: "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" EXACT [OMIM:215470]
xref: DOID:0111265 {source="MONDO:equivalentTo"}
xref: GARD:944 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:1180/attributed", source="Orphanet:1180/ntbt", source="Orphanet:1180"}
xref: MEDGEN:347798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565850 {source="MONDO:equivalentTo"}
xref: OMIM:215470 {source="Orphanet:1180/e", source="MONDO:equivalentTo", source="Orphanet:1180"}
xref: Orphanet:1180 {source="MONDO:equivalentTo", source="OMIM:215470"}
xref: SCTID:715984007 {source="MONDO:equivalentTo"}
xref: UMLS:C1859093 {source="MEDGEN:347798", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0100309 {source="Orphanet:1180"} ! hereditary ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="MONDO:mim2gene_medgen"} ! PNPLA6

[Term]
id: MONDO:0008981
name: infantile choroidocerebral calcification syndrome
def: "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities." [Orphanet:1313]
subset: gard_rare {source="GARD:1313", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1313"}
subset: orphanet_rare {source="Orphanet:1313"}
subset: rare
synonym: "choroid plexus calcification and intellectual disability" RELATED [OMIM:215480]
synonym: "choroid plexus calcification and mental retardation" RELATED DEPRECATED [OMIM:215480]
synonym: "choroid plexus calcification with intellectual disability" RELATED [GARD:0001313]
synonym: "choroid plexus calcification with mental retardation" RELATED DEPRECATED [GARD:0001313]
synonym: "Choroido-cerebral calcification syndrome with retardation" RELATED [GARD:0001313]
xref: GARD:1313 {source="MONDO:GARD"}
xref: ICD10CM:G93.8 {source="Orphanet:1313", source="Orphanet:1313/attributed", source="Orphanet:1313/ntbt"}
xref: MEDGEN:395174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535357 {source="MONDO:equivalentTo"}
xref: OMIM:215480 {source="MONDO:equivalentTo", source="Orphanet:1313", source="Orphanet:1313/e"}
xref: Orphanet:1313 {source="MONDO:equivalentTo", source="OMIM:215480"}
xref: SCTID:724228005 {source="MONDO:equivalentTo"}
xref: UMLS:C1859092 {source="MEDGEN:395174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1313", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0008982
name: central areolar choroidal dystrophy
def: "A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." [Orphanet:75377]
subset: gard_rare {source="GARD:10049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75377"}
subset: orphanet_rare {source="Orphanet:75377"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "areolar atrophy of the macula" EXACT [Orphanet:75377]
synonym: "CACD" EXACT ABBREVIATION [Orphanet:75377]
synonym: "CACD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215500]
synonym: "central areolar choroidal sclerosis" EXACT [Orphanet:75377]
synonym: "choroidal dystrophy" EXACT [MONDO:0000013]
synonym: "choroidal dystrophy central areolar" RELATED [GARD:0010049]
synonym: "choroidal dystrophy, central areolar, 1" RELATED [MONDO:Lexical, OMIM:215500]
xref: GARD:10049 {source="MONDO:GARD"}
xref: ICD10CM:H31.2 {source="Orphanet:75377", source="Orphanet:75377/ntbt", source="Orphanet:75377/inclusion"}
xref: ICD9:363.54 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:283932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535358 {source="Orphanet:75377", source="Orphanet:75377/e", source="MONDO:directSiblingOf"}
xref: NANDO:1200939 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:215500 {source="MONDO:equivalentTo"}
xref: Orphanet:75377 {source="MONDO:equivalentTo", source="OMIM:215500"}
xref: SCTID:231996009 {source="MONDO:equivalentTo"}
xref: SCTID:312918002 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1536451 {source="MEDGEN:283932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001898 {source="MONDO:Redundant"} ! optic choroid disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:215500"} ! inherited

[Term]
id: MONDO:0008983
name: chromosomal instability with tissue-specific radiosensitivity
synonym: "chromosomal instability with tissue-specific radiosensitivity" EXACT [OMIM:215510]
xref: MEDGEN:347797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565848 {source="MONDO:equivalentTo"}
xref: OMIM:215510 {source="MONDO:equivalentTo"}
xref: UMLS:C1859091 {source="MEDGEN:347797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008984
name: ciliary discoordination due to random ciliary orientation
subset: gard_rare {source="GARD:1360", source="MONDO:GARD"}
subset: rare
synonym: "ciliary discoordination due to random ciliary orientation" EXACT [OMIM:215518]
synonym: "ciliary discoordination, due to random ciliary orientation" RELATED [GARD:0001360]
synonym: "Rutland ciliary disorientation syndrome" RELATED [OMIM:215518]
xref: GARD:1360 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562757 {source="MONDO:equivalentTo"}
xref: OMIM:215518 {source="MONDO:equivalentTo"}
xref: SCTID:233667003 {source="MONDO:equivalentTo"}
xref: UMLS:C0340038 {source="MEDGEN:83299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="MESH:C562757"} ! primary ciliary dyskinesia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation" xsd:anyURI {source="GARD:0001360"}

[Term]
id: MONDO:0008985
name: ciliary dyskinesia with transposition of ciliary microtubules
subset: gard_rare {source="GARD:1361", source="MONDO:GARD"}
subset: rare
synonym: "ciliary dyskinesia with transposition of ciliary microtubules" EXACT [OMIM:215520]
synonym: "ciliary dyskinesia, due to transposition of ciliary microtubules" RELATED [GARD:0001361]
xref: GARD:1361 {source="MONDO:GARD"}
xref: MEDGEN:388736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567137 {source="MONDO:equivalentTo"}
xref: OMIM:215520 {source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:215520"}
xref: UMLS:C2673817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388736"}
is_a: MONDO:0016575 {source="MESH:C567137"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0008986
name: circumvallate placenta syndrome
synonym: "circumvallate placenta syndrome" EXACT [OMIM:215550]
xref: MEDGEN:347062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565847 {source="MONDO:equivalentTo"}
xref: OMIM:215550 {source="MONDO:equivalentTo"}
xref: UMLS:C1859089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347062"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0008987
name: obsolete cirrhosis, familial
is_obsolete: true
replaced_by: MONDO:0007329

[Term]
id: MONDO:0008988
name: citrullinemia type I
def: "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)." [Orphanet:247525]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6114", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247525"}
subset: orphanet_rare {source="Orphanet:247525"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "argininosuccinate synthase deficiency" EXACT [Orphanet:247525]
synonym: "argininosuccinate synthetase deficiency" EXACT [OMIM:215700, Orphanet:247525]
synonym: "argininosuccinic acid synthase deficiency" EXACT [Orphanet:247525]
synonym: "argininosuccinic acid synthetase deficiency" EXACT [Orphanet:247525]
synonym: "ASS deficiency" EXACT [Orphanet:247525]
synonym: "citrullinemia" BROAD [OMIM:215700, OMIM:genemap2]
synonym: "citrullinemia 1" RELATED [GARD:0006114]
synonym: "citrullinemia type 1" EXACT [Orphanet:247525]
synonym: "citrullinemia type I" EXACT CLINGEN_LABEL []
synonym: "citrullinemia, classic" RELATED [OMIM:215700]
synonym: "citrullinemia, type 1" RELATED [OMIM:215700]
synonym: "Citrullinuria" RELATED [OMIM:215700]
synonym: "classic citrullinemia" EXACT [Orphanet:247525]
synonym: "CTLN1" EXACT ABBREVIATION [Orphanet:247525]
synonym: "CTNL1" RELATED ABBREVIATION [GARD:0006114]
xref: DOID:0070340 {source="MONDO:equivalentTo"}
xref: GARD:6114 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:247525/attributed", source="Orphanet:247525/ntbt", source="Orphanet:247525"}
xref: MedDRA:10058298 {source="Orphanet:247525", source="Orphanet:247525/e"}
xref: MEDGEN:1648491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200805 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200480 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C150601 {source="MONDO:equivalentTo"}
xref: OMIM:215700 {source="DOID:0070340", source="Orphanet:247525", source="MONDO:equivalentTo", source="Orphanet:247525/e"}
xref: Orphanet:247525 {source="MONDO:equivalentTo", source="OMIM:215700"}
xref: SCTID:398680004 {source="MONDO:equivalentTo"}
xref: UMLS:C4721769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648491"}
is_a: MONDO:0015991 {source="DC-OMIM:215700", source="DOID:0070340", source="NCIT:C150601", source="Orphanet:247525"} ! citrullinemia
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/758 {source="MONDO:mim2gene_medgen"} ! ASS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0008989
name: citrulline transport defect
synonym: "citrulline transport defect" EXACT [OMIM:215720]
xref: MEDGEN:349092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536207 {source="MONDO:equivalentTo"}
xref: OMIM:215720 {source="MONDO:equivalentTo"}
xref: UMLS:C1859084 {source="MONDO:equivalentTo", source="MEDGEN:349092", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536207/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9949/citrulline-transport-defect" xsd:anyURI {source="GARD:0009949"}

[Term]
id: MONDO:0008990
name: cleft larynx, posterior
subset: gard_rare {source="GARD:4015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft larynx, posterior" EXACT [GARD:0004015, OMIM:215800]
synonym: "laryngotracheoesophageal cleft pulmonary hypoplasia" RELATED [GARD:0004015]
synonym: "Novak syndrome" RELATED [GARD:0004015]
synonym: "stridor, congenital" RELATED [OMIM:215800]
xref: GARD:4015 {source="MONDO:GARD"}
xref: MEDGEN:349091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:215800 {source="GARD:0004015", source="MONDO:equivalentTo"}
xref: Orphanet:2004 {source="OMIM:215800"}
xref: Orphanet:2005 {source="GARD:0004015", source="MONDO:equivalentObsolete"}
xref: Orphanet:93940 {source="OMIM:215800", source="MONDO:directSiblingOf"}
xref: UMLS:C1859083 {source="MEDGEN:349091", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016060 {source="Orphanet:2004/btnt"} ! laryngotracheoesophageal cleft

[Term]
id: MONDO:0008991
name: Verloove Vanhorick-Brubakk syndrome
def: "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." [Orphanet:3429]
subset: gard_rare {source="GARD:5482", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3429"}
subset: ordo_malformation_syndrome {source="Orphanet:3429"}
subset: orphanet_rare {source="Orphanet:3429"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft limb heart malformation syndrome" RELATED [GARD:0005482]
synonym: "cleft lip-limb and heart malformations syndrome" EXACT [Orphanet:3429]
synonym: "cleft-limb-heart malformation syndrome" RELATED [OMIM:215850]
synonym: "cleft-limb-heart malformation syndrome syndrome" EXACT [Orphanet:3429]
synonym: "Clh syndrome" RELATED [OMIM:215850]
synonym: "Verloove Vanhorick Brubakk syndrome" RELATED [GARD:0005482]
xref: GARD:5482 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3429/attributed", source="Orphanet:3429/ntbt", source="Orphanet:3429"}
xref: MEDGEN:395171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536541 {source="Orphanet:3429/e", source="MONDO:equivalentTo", source="Orphanet:3429"}
xref: OMIM:215850 {source="Orphanet:3429/e", source="MONDO:equivalentTo", source="Orphanet:3429"}
xref: Orphanet:3429 {source="OMIM:215850", source="MONDO:equivalentTo"}
xref: SCTID:764697003 {source="MONDO:equivalentTo"}
xref: UMLS:C1859082 {source="MEDGEN:395171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3429"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome" xsd:anyURI {source="GARD:0005482"}

[Term]
id: MONDO:0008992
name: Juberg-Hayward syndrome
def: "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." [Orphanet:2319]
subset: gard_rare {source="GARD:3060", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1531"}
subset: ordo_disorder {source="Orphanet:2319"}
subset: ordo_malformation_syndrome {source="Orphanet:2319"}
subset: orphanet_rare {source="Orphanet:2319"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft LIP/palate with abnormal thumbs and microcephaly" RELATED [OMIM:216100]
synonym: "cleft lip/palate-abnormal thumbs-microcephaly syndrome" EXACT [Orphanet:2319]
synonym: "JHS" RELATED ABBREVIATION [GARD:0003060]
synonym: "Juberg-Hayward syndrome" EXACT [OMIM:216100]
synonym: "Orocraniodigital Syndrome" EXACT [NORD:1531]
synonym: "Orocraniodigital syndrome" EXACT [OMIM:216100, Orphanet:2319]
xref: GARD:3060 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2319", source="Orphanet:2319/attributed", source="Orphanet:2319/ntbt"}
xref: MEDGEN:162906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537690 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"}
xref: NORD:1531 {source="MONDO:NORD"}
xref: OMIM:216100 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"}
xref: Orphanet:2319 {source="OMIM:216100", source="MONDO:equivalentTo"}
xref: SCTID:721874001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796099 {source="MEDGEN:162906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2319"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome" xsd:anyURI {source="GARD:0003060"}

[Term]
id: MONDO:0008993
name: cleft palate-stapes fixation-oligodontia syndrome
def: "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." [Orphanet:2010]
subset: gard_rare {source="GARD:1393", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2010"}
subset: ordo_malformation_syndrome {source="Orphanet:2010"}
subset: orphanet_rare {source="Orphanet:2010"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate stapes fixation oligodontia" RELATED [GARD:0001393]
synonym: "cleft palate, deafness, and oligodontia" RELATED [OMIM:216300]
xref: GARD:1393 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2010/attributed", source="Orphanet:2010/ntbt", source="Orphanet:2010"}
xref: MEDGEN:347795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565844 {source="MONDO:equivalentTo"}
xref: OMIM:216300 {source="Orphanet:2010/e", source="MONDO:equivalentTo", source="GARD:0001393", source="Orphanet:2010"}
xref: Orphanet:2010 {source="OMIM:216300", source="MONDO:equivalentTo"}
xref: UMLS:C1859081 {source="MEDGEN:347795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:2010", source="Orphanet:2010/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia" xsd:anyURI {source="GARD:0001393"}

[Term]
id: MONDO:0008994
name: cleidocranial dysplasia, recessive form
subset: gard_rare {source="GARD:10623", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive form of cleidocranial dysostosis" RELATED [GARD:0010623]
synonym: "cleidocranial dysplasia recessive form" RELATED [GARD:0010623]
synonym: "cleidocranial dysplasia, recessive form" EXACT [OMIM:216330]
xref: GARD:10623 {source="MONDO:GARD"}
xref: MEDGEN:395170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565843 {source="MONDO:equivalentTo"}
xref: OMIM:216330 {source="MONDO:equivalentTo"}
xref: Orphanet:1452 {source="OMIM:216330"}
xref: UMLS:C1859080 {source="MEDGEN:395170", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="https://orcid.org/0000-0001-5208-3432"} ! osteochondrodysplasia
relationship: excluded_subClassOf MONDO:0007340 {source="DC-OMIM:216330", source="MESH:C565843", source="https://orcid.org/0000-0001-5208-3432"} ! cleidocranial dysplasia 1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form" xsd:anyURI {source="GARD:0010623"}

[Term]
id: MONDO:0008995
name: Yunis-Varon syndrome
def: "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome]
subset: gard_rare {source="GARD:331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1875"}
subset: ordo_disorder {source="Orphanet:3472"}
subset: ordo_malformation_syndrome {source="Orphanet:3472"}
subset: orphanet_rare {source="Orphanet:3472"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia" RELATED [OMIM:216340]
synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [DOID:0060589]
synonym: "cleidocranial dysplasia-micrognathia-absent thumbs syndrome" EXACT [DOID:0060589, Orphanet:3472]
synonym: "Yunis Varon Syndrome" EXACT [NORD:1875]
synonym: "Yunis Varon syndrome" EXACT [GARD:0000331]
synonym: "Yunis-Varon syndrome" EXACT [MONDO:Lexical, OMIM:216340]
synonym: "Yunis-Varón syndrome" EXACT [GARD:0000331]
synonym: "YVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216340]
xref: DOID:0060589 {source="MONDO:equivalentTo"}
xref: GARD:331 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060589", source="Orphanet:3472/attributed", source="Orphanet:3472/ntbt", source="Orphanet:3472"}
xref: icd11.foundation:1696991249 {source="MONDO:equivalentTo", source="Orphanet:3472", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:341818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536719 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="Orphanet:3472"}
xref: NORD:1875 {source="MONDO:NORD"}
xref: OMIM:216340 {source="Orphanet:3472/e", source="DOID:0060589", source="MONDO:equivalentTo", source="Orphanet:3472"}
xref: Orphanet:3472 {source="MONDO:equivalentTo", source="OMIM:216340"}
xref: UMLS:C1857663 {source="MEDGEN:341818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060589"} ! syndromic disease
is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 {source="MONDO:mim2gene_medgen"} ! FIG4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome" xsd:anyURI {source="GARD:0000331"}

[Term]
id: MONDO:0008996
name: obsolete COACH syndrome 1
def: "OBSOLETE. A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." [Orphanet:1454]
xref: ICD10CM:Q04.3 {source="Orphanet:1454/attributed", source="Orphanet:1454/ntbt", source="Orphanet:1454"}
xref: NANDO:1201050 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
relationship: excluded_subClassOf MONDO:0000001 {source="Orphanet:1454", source="https://orcid.org/0000-0001-5208-3432"} ! disease
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:1454", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0017118 {source="Orphanet:1454", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with a cerebellar malformation as major feature
relationship: excluded_subClassOf MONDO:0043007 {source="Orphanet:1454", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4986" xsd:anyURI
is_obsolete: true
consider: MONDO:0100349
consider: MONDO:0800103

[Term]
id: MONDO:0008997
name: obsolete Cockayne syndrome A
is_obsolete: true
replaced_by: MONDO:0019569

[Term]
id: MONDO:0008998
name: Cockayne syndrome type 3
def: "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." [http://www.diseaseinfosearch.org/Cockayne+Syndrome+Type+III/1704]
comment: Editor note: this is obsolete in OMIM but is still a valid class in Orphanet. No info in GHR
subset: gard_rare {source="GARD:1417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90324"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cockayne syndrome type 3" EXACT [GARD:0001417]
synonym: "Cockayne syndrome type C" RELATED [GARD:0001417]
synonym: "Cockayne syndrome type III" EXACT [Orphanet:90324]
synonym: "Cockayne syndrome, type III" RELATED [OMIM:216411]
xref: GARD:1417 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:90324/attributed", source="Orphanet:90324/ntbt", source="Orphanet:90324"}
xref: MEDGEN:196713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:216411 {source="MONDO:equivalentObsolete", source="OMIM:216400", source="Orphanet:90324/btnt", source="GARD:0001417", source="Orphanet:90324"}
xref: Orphanet:191 {source="OMIM:216411"}
xref: Orphanet:90324 {source="OMIM:216411", source="MONDO:equivalentTo", source="GARD:0001417"}
xref: UMLS:C0751037 {source="MEDGEN:196713", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016006 {source="DC-OMIM:216411", source="Orphanet:90324"} ! Cockayne syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii" xsd:anyURI {source="GARD:0001417"}

[Term]
id: MONDO:0008999
name: Cohen syndrome
def: "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." [Orphanet:193]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:986"}
subset: ordo_disorder {source="Orphanet:193"}
subset: ordo_malformation_syndrome {source="Orphanet:193"}
subset: orphanet_rare {source="Orphanet:193"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chs1" RELATED [OMIM:216550]
synonym: "Chs1, formerly" RELATED [OMIM:216550]
synonym: "Coh" RELATED [OMIM:216550]
synonym: "COH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216550]
synonym: "Cohen syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:216550]
synonym: "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness" EXACT [OMIM:216550]
synonym: "hypotonia, obesity, and prominent incisors" RELATED [OMIM:216550]
synonym: "pepper syndrome" RELATED [OMIM:216550]
xref: DOID:0111590 {source="MONDO:equivalentTo"}
xref: GARD:6126 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:193", source="Orphanet:193/attributed", source="Orphanet:193/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049066 {source="Orphanet:193", source="Orphanet:193/e"}
xref: MEDGEN:78539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536438 {source="MONDO:equivalentTo", source="Orphanet:193", source="Orphanet:193/e"}
xref: NANDO:2200750 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:986 {source="MONDO:NORD"}
xref: OMIM:216550 {source="MONDO:equivalentTo", source="Orphanet:193", source="Orphanet:193/e"}
xref: Orphanet:193 {source="OMIM:216550", source="MONDO:equivalentTo"}
xref: SCTID:56604005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265223 {source="MEDGEN:78539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:193", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
is_a: MONDO:0015159 {source="Orphanet:193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2183 {source="MONDO:mim2gene_medgen"} ! VPS13B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome" xsd:anyURI {source="GARD:0006126"}

[Term]
id: MONDO:0009000
name: familial reactive perforating collagenosis
def: "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules." [Orphanet:79147]
subset: gard_rare {source="GARD:13331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79147"}
subset: orphanet_rare {source="Orphanet:79147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "collagenosis, familial reactive perforating" RELATED [MONDO:Lexical, OMIM:216700]
synonym: "inherited reactive perforating collagenosis" RELATED [GARD:0013331]
synonym: "RPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216700]
xref: GARD:13331 {source="MONDO:GARD"}
xref: ICD10CM:L87.1 {source="Orphanet:79147/attributed", source="Orphanet:79147/ntbt", source="Orphanet:79147"}
xref: MEDGEN:347504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565687 {source="MONDO:equivalentTo"}
xref: OMIM:216700 {source="Orphanet:79147/e", source="MONDO:equivalentTo", source="Orphanet:79147"}
xref: Orphanet:79147 {source="MONDO:equivalentTo", source="OMIM:216700"}
xref: UMLS:C1857624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347504"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis" xsd:anyURI {source="GARD:0013331"}

[Term]
id: MONDO:0009001
name: macular coloboma-cleft palate-hallux valgus syndrome
def: "Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." [Orphanet:91494]
subset: gard_rare {source="GARD:16802", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:91494"}
subset: ordo_malformation_syndrome {source="Orphanet:91494"}
subset: orphanet_rare {source="Orphanet:91494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coloboma of macula and skeletal anomalies" RELATED [OMIM:216800]
xref: GARD:16802 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:91494", source="Orphanet:91494/attributed", source="Orphanet:91494/ntbt"}
xref: MEDGEN:341812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565686 {source="MONDO:equivalentTo"}
xref: OMIM:216800 {source="Orphanet:91494", source="MONDO:equivalentTo", source="Orphanet:91494/e"}
xref: Orphanet:91494 {source="MONDO:equivalentTo", source="OMIM:216800"}
xref: SCTID:722463001 {source="MONDO:equivalentTo"}
xref: UMLS:C1857619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341812"}
is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy

[Term]
id: MONDO:0009002
name: coloboma, ocular, autosomal recessive
synonym: "coloboma, ocular, autosomal recessive" EXACT [OMIM:216820]
xref: MEDGEN:860411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:216820 {source="MONDO:equivalentTo"}
xref: Orphanet:194 {source="OMIM:216820"}
xref: UMLS:C4011974 {source="MEDGEN:860411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001476 {source="Orphanet:194/btnt"} ! coloboma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10526 {source="MONDO:mim2gene_medgen"} ! SALL2

[Term]
id: MONDO:0009003
name: achromatopsia 2
def: "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms." [https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2]
subset: gard_rare {source="GARD:9649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACHM2" EXACT ABBREVIATION [DOID:0110007, MONDO:Lexical, OMIM:216900]
synonym: "achromatopsia 2" EXACT [MONDO:Lexical, OMIM:216900]
synonym: "achromatopsia caused by mutation in CNGA3" EXACT [MONDO:design_pattern]
synonym: "achromatopsia type 2" EXACT [DOID:0110007, MONDORULE:1, OMIM:216900]
synonym: "CNGA3 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "colorblindness, total" RELATED [OMIM:216900]
synonym: "RMCH2" EXACT ABBREVIATION [DOID:0110007]
synonym: "Rod monochromacy 2" RELATED [OMIM:216900]
synonym: "rod monochromacy 2" EXACT [DOID:0110007]
synonym: "Rod monochromatism 2" RELATED [OMIM:216900]
synonym: "rod monochromatism 2" EXACT [DOID:0110007]
xref: DOID:0110007 {source="MONDO:equivalentTo"}
xref: GARD:9649 {source="MONDO:GARD"}
xref: MEDGEN:387867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536128 {source="MONDO:equivalentTo"}
xref: NCIT:C168757 {source="MONDO:equivalentTo"}
xref: OMIM:216900 {source="DOID:0110007", source="MONDO:equivalentTo"}
xref: Orphanet:49382 {source="OMIM:216900"}
xref: UMLS:C1857618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387867"}
is_a: MONDO:0018852 {source="DC-OMIM:216900", source="DOID:0110007", source="MONDO:Redundant"} ! achromatopsia
is_a: MONDO:0800102 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGA3-related retinopathy
intersection_of: MONDO:0018852 ! achromatopsia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2150 ! CNGA3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2150 {source="MONDO:mim2gene_medgen"} ! CNGA3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2" xsd:anyURI {source="GARD:0009649"}

[Term]
id: MONDO:0009004
name: obsolete combined inflammatory and immunologic defect
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3799" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014353

[Term]
id: MONDO:0009005
name: complement component C1r/C1s deficiency
def: "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae." [NCIT:C119991]
subset: gard_rare {source="GARD:15155", source="MONDO:GARD"}
subset: rare
synonym: "C1r/C1s deficiency" RELATED [OMIM:216950]
synonym: "complement component C1r/C1s deficiency" EXACT [OMIM:216950]
xref: GARD:15155 {source="MONDO:GARD"}
xref: MEDGEN:461624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C119991 {source="MONDO:equivalentTo"}
xref: OMIM:216950 {source="MONDO:equivalentTo"}
xref: Orphanet:169147 {source="OMIM:216950"}
xref: UMLS:C3150274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461624"}
is_a: MONDO:0000015 {source="DC-OMIM:216950"} ! classic complement early component deficiency
is_a: MONDO:0003832 {source="MONDO:Redundant", source="NCIT:C119991"} ! complement deficiency
is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1246 {source="MONDO:mim2gene_medgen"} ! C1R

[Term]
id: MONDO:0009006
name: complement component 2 deficiency
def: "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency]
subset: gard_rare {source="GARD:1452", source="MONDO:GARD"}
subset: rare
synonym: "C2 complement deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C2 deficiency" RELATED [OMIM:217000]
synonym: "C2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217000]
synonym: "complement component 2 deficiency" EXACT [MONDO:Lexical, OMIM:217000]
synonym: "complement deficiency caused by mutation in C2" EXACT [MONDO:design_pattern]
xref: DOID:0060295 {source="MONDO:equivalentTo"}
xref: GARD:1452 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="DOID:0060295"}
xref: MEDGEN:461625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200781 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119992 {source="MONDO:equivalentTo"}
xref: OMIM:217000 {source="MONDO:equivalentTo", source="DOID:0060295"}
xref: Orphanet:169147 {source="DOID:0060295", source="OMIM:217000"}
xref: UMLS:C3150275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461625"}
is_a: MONDO:0000015 {source="DC-OMIM:217000"} ! classic complement early component deficiency
is_a: MONDO:0003832 {source="DOID:0060295", source="MONDO:Redundant", source="NCIT:C119992"} ! complement deficiency
is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
intersection_of: MONDO:0003832 ! complement deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1248 ! C2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1248 {source="MONDO:mim2gene_medgen"} ! C2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency" xsd:anyURI {source="GARD:0001452"}

[Term]
id: MONDO:0009007
name: Jalili syndrome
def: "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD)." [Orphanet:1873]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1463", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1873"}
subset: ordo_malformation_syndrome {source="Orphanet:1873"}
subset: orphanet_rare {source="Orphanet:1873"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [Orphanet:1873]
synonym: "cone-rod dystrophy amelogenesis imperfecta" RELATED [GARD:0001463]
synonym: "cone-rod dystrophy and amelogenesis imperfecta" RELATED [OMIM:217080]
synonym: "cone-rod dystrophy with amelogenesis imperfecta" RELATED [GARD:0001463]
synonym: "Jalili syndrome" EXACT CLINGEN_LABEL [GARD:0001463, OMIM:217080]
xref: DOID:0111404 {source="MONDO:equivalentTo"}
xref: GARD:1463 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:1873/attributed", source="Orphanet:1873/ntbt", source="MONDO:relatedTo", source="Orphanet:1873"}
xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:501210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000596385 {source="MONDO:equivalentTo"}
xref: OMIM:217080 {source="GARD:0001463", source="Orphanet:1873", source="MONDO:equivalentTo", source="Orphanet:1873/e"}
xref: Orphanet:1873 {source="GARD:0001463", source="MONDO:equivalentTo", source="OMIM:217080"}
xref: SCTID:707608003 {source="MONDO:equivalentTo"}
xref: UMLS:C3495589 {source="MEDGEN:501210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:1873", source="Orphanet:1873/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/105 {source="MONDO:mim2gene_medgen"} ! CNNM4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta" xsd:anyURI {source="GARD:0001463"}

[Term]
id: MONDO:0009008
name: heart defect - tongue hamartoma - polysyndactyly syndrome
subset: gard_rare {source="GARD:4166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1338"}
subset: ordo_malformation_syndrome {source="Orphanet:1338"}
subset: orphanet_rare {source="Orphanet:1338"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHDTHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217085]
synonym: "congenital heart defects, hamartomas of tongue, and polysyndactyly" RELATED [MONDO:Lexical, OMIM:217085]
synonym: "heart defect - tongue hamartoma - polysyndactyly syndrome" EXACT CLINGEN_LABEL []
synonym: "heart defect, tongue hamartoma and polysyndactyly" RELATED [GARD:0002612]
synonym: "Orstavik Lindemann Solberg syndrome" RELATED [GARD:0004166]
synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [Orphanet:1338]
xref: DOID:0111591 {source="MONDO:equivalentTo"}
xref: GARD:4166 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1338", source="Orphanet:1338/attributed", source="Orphanet:1338/ntbt"}
xref: MEDGEN:341804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535849 {source="MONDO:equivalentTo", source="Orphanet:1338", source="Orphanet:1338/e"}
xref: OMIM:217085 {source="MONDO:equivalentTo", source="GARD:0002612", source="Orphanet:1338", source="Orphanet:1338/e"}
xref: Orphanet:1338 {source="MONDO:equivalentTo", source="OMIM:217085"}
xref: UMLS:C1857587 {source="MEDGEN:341804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:1338"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1338", source="Orphanet:1338/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28027 {source="MONDO:mim2gene_medgen"} ! WDPCP

[Term]
id: MONDO:0009009
name: hypoplasminogenemia
def: "A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae." [Orphanet:722]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:722"}
subset: orphanet_rare {source="Orphanet:722"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypoplasminogenemia" EXACT CLINGEN_LABEL []
synonym: "ligneous conjunctivitis" RELATED [https://orcid.org/0000-0001-9310-0163, OMIM:217090]
synonym: "plasminogen deficiency type 1" EXACT [https://orcid.org/0000-0001-9310-0163, Orphanet:722]
synonym: "plasminogen deficiency, type 1" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:217090]
synonym: "plasminogen deficiency, type I" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:217090]
synonym: "type 1 plasminogen deficiency" EXACT [GARD:0004380, https://orcid.org/0000-0001-9310-0163]
xref: DOID:0111592 {source="MONDO:equivalentTo"}
xref: GARD:4380 {source="MONDO:GARD"}
xref: ICD10CM:H10.4 {source="Orphanet:97231/attributed", source="Orphanet:97231/ntbt", source="Orphanet:97231"}
xref: ICD10CM:L90.5 {source="Orphanet:722", source="Orphanet:722/attributed", source="Orphanet:722/ntbt"}
xref: icd11.foundation:1240776230 {source="Orphanet:722", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071570 {source="Orphanet:97231/e", source="Orphanet:97231"}
xref: MEDGEN:97984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580017 {source="MONDO:equivalentTo"}
xref: OMIM:217090 {source="Orphanet:722", source="MONDO:equivalentTo", source="Orphanet:722/e"}
xref: Orphanet:722 {source="MONDO:equivalentTo", source="OMIM:217090"}
xref: Orphanet:97231 {source="MONDO:equivalentObsolete", source="OMIM:217090"}
xref: SCTID:403435005 {source="MONDO:relatedTo"}
xref: SCTID:95840007 {source="MONDO:equivalentTo"}
xref: UMLS:C0398621 {source="MEDGEN:97984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MESH:C580017"} ! coagulation protein disease
is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:722/inferred"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0002314 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! chronic conjunctivitis
relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0015937-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0006170 {source="MONDO:Entailed", source="Orphanet:97231", source="https://orcid.org/0000-0001-5208-3432"} ! conjunctival disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020198"} ! rare
relationship: has_characteristic PATO:0001863 ! chronic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9071 {source="MONDO:mim2gene_medgen"} ! PLG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7100" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7224" xsd:anyURI

[Term]
id: MONDO:0009010
name: aortic arch interruption
def: "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths." [Orphanet:2299]
subset: gard_rare {source="GARD:740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2299"}
subset: ordo_morphological_anomaly {source="Orphanet:2299"}
subset: orphanet_rare {source="Orphanet:2299"}
subset: rare
xref: GARD:740 {source="MONDO:GARD"}
xref: ICD10CM:Q20.1 {source="DOID:6406"}
xref: ICD10CM:Q25.21 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q25.4 {source="Orphanet:2299/ntbt", source="Orphanet:2299"}
xref: icd11.foundation:1769930414 {source="Orphanet:2299", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:745.11 {source="DOID:6406"}
xref: MedDRA:10022599 {source="Orphanet:2299", source="Orphanet:2299/e"}
xref: MEDGEN:57773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200288 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:2299 {source="MONDO:equivalentTo"}
xref: UMLS:C0152419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57773"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption" xsd:anyURI {source="GARD:0000740"}

[Term]
id: MONDO:0009011
name: obsolete constriction rings syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5001" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015167

[Term]
id: MONDO:0009012
name: multiple pterygium-malignant hyperthermia syndrome
def: "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." [Orphanet:2215]
subset: gard_rare {source="GARD:3361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2215"}
subset: ordo_malformation_syndrome {source="Orphanet:2215"}
subset: orphanet_rare {source="Orphanet:2215"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "contractures, congenital, torticollis, and malignant hyperthermia" RELATED [OMIM:217150]
synonym: "froster-Iskenius-Waterson syndrome" RELATED [GARD:0003361]
synonym: "froster-Iskenius-Waterson-Hall syndrome" EXACT [Orphanet:2215]
synonym: "malignant hyperthermia - arthrogryposis - torticollis" RELATED [GARD:0003361]
synonym: "malignant hyperthermia arthrogryposis torticollis" RELATED [GARD:0003361]
synonym: "malignant hyperthermia-arthrogryposis-torticollis syndrome" EXACT [Orphanet:2215]
xref: GARD:3361 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2215", source="Orphanet:2215/attributed", source="Orphanet:2215/ntbt"}
xref: MEDGEN:347490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565679 {source="MONDO:equivalentTo"}
xref: OMIM:217150 {source="MONDO:equivalentTo", source="Orphanet:2215", source="GARD:0003361", source="Orphanet:2215/e"}
xref: Orphanet:2215 {source="MONDO:equivalentTo", source="OMIM:217150", source="GARD:0003361"}
xref: UMLS:C1857576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347490"}
is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder
is_a: MONDO:0015168 {source="Orphanet:2215"} ! arthrogryposis multiplex congenita
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:2215", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis" xsd:anyURI {source="GARD:0003361"}

[Term]
id: MONDO:0009013
name: convulsive disorder, familial, with prenatal or early onset
synonym: "convulsive disorder, familial, with prenatal or early onset" EXACT [OMIM:217200]
xref: MEDGEN:387859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565678 {source="MONDO:equivalentTo"}
xref: OMIM:217200 {source="MONDO:equivalentTo"}
xref: UMLS:C1857575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387859"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009014
name: cornea plana 2
def: "Any cornea plana in which the cause of the disease is a mutation in the KERA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18050", source="MONDO:GARD"}
subset: rare
synonym: "CNA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217300]
synonym: "cornea plana 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:217300]
synonym: "cornea plana 2, autosomal recessive" RELATED [OMIM:217300]
synonym: "cornea plana caused by mutation in KERA" EXACT [MONDO:design_pattern]
synonym: "cornea plana type 2" EXACT [MONDORULE:1, OMIM:217300]
synonym: "KERA cornea plana" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18050 {source="MONDO:GARD"}
xref: MEDGEN:346616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565677 {source="MONDO:equivalentTo"}
xref: OMIM:217300 {source="MONDO:equivalentTo"}
xref: Orphanet:53691 {source="OMIM:217300"}
xref: UMLS:C1857574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346616"}
is_a: MONDO:0000733 {source="MONDO:Redundant", source="OMIM:217300"} ! cornea plana
intersection_of: MONDO:0000733 ! cornea plana
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6309 ! KERA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6309 {source="MONDO:mim2gene_medgen"} ! KERA

[Term]
id: MONDO:0009015
name: corneal dystrophy-perceptive deafness syndrome
def: "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss." [Orphanet:1490]
subset: gard_rare {source="GARD:1529", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1490"}
subset: ordo_malformation_syndrome {source="Orphanet:1490"}
subset: orphanet_rare {source="Orphanet:1490"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217400, Orphanet:1490]
synonym: "Cdpd1" RELATED [OMIM:217400]
synonym: "congenital corneal dystrophy, progressive sensorineural deafness" RELATED [GARD:0001529]
synonym: "corneal dystrophy and perceptive deafness" RELATED [MONDO:Lexical, OMIM:217400]
synonym: "corneal dystrophy and sensorineural deafness" RELATED [OMIM:217400]
synonym: "corneal dystrophy with progressive deafness" EXACT [Orphanet:1490]
synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [OMIM:217400, OMIM:genemap2]
synonym: "Harboyan syndrome" EXACT [OMIM:217400, Orphanet:1490]
xref: DOID:0111620 {source="MONDO:equivalentTo"}
xref: GARD:1529 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:1490/attributed", source="Orphanet:1490/ntbt", source="Orphanet:1490"}
xref: MEDGEN:387858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535473 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source="Orphanet:1490"}
xref: OMIM:217400 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source="Orphanet:1490"}
xref: Orphanet:1490 {source="OMIM:217400", source="MONDO:equivalentTo"}
xref: SCTID:720749004 {source="MONDO:equivalentTo"}
xref: UMLS:C1857572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387858"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 {source="MONDO:mim2gene_medgen"} ! SLC4A11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009016
name: band keratopathy
def: "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "band keratopathy" EXACT [OMIM:217500]
synonym: "band-shaped keratopathy" EXACT [DOID:11164, ICD9CM:371.43]
synonym: "corneal dystrophy, band-SHAPED" RELATED [OMIM:217500]
xref: DOID:11164 {source="MONDO:equivalentTo"}
xref: ICD10CM:H18.42 {source="DOID:11164"}
xref: ICD9:371.43 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11164"}
xref: MEDGEN:56354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562399 {source="MONDO:equivalentTo", source="DOID:11164"}
xref: NCIT:C118765 {source="MONDO:equivalentTo", source="DOID:11164"}
xref: OMIM:217500 {source="MONDO:equivalentTo", source="DOID:11164"}
xref: SCTID:35055000 {source="MONDO:equivalentTo", source="DOID:11164"}
xref: UMLS:C0155120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56354"}
is_a: MONDO:0001515 {source="DOID:11164"} ! corneal degeneration
is_a: MONDO:0002261 {source="NCIT:C118765"} ! keratopathy
is_a: MONDO:0018102 {source="DC-OMIM:217500", source="MESH:C562399"} ! corneal dystrophy

[Term]
id: MONDO:0009017
name: corneal degeneration, band-shaped spheroid
synonym: "corneal degeneration, band-shaped spheroid" EXACT [OMIM:217520]
xref: MEDGEN:347489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:217520 {source="MONDO:equivalentTo"}
xref: UMLS:C1857571 {source="MEDGEN:347489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009018
name: central cloudy dystrophy of François
def: "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." [Orphanet:98972]
subset: gard_rare {source="GARD:16881", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98972"}
subset: orphanet_rare {source="Orphanet:98972"}
subset: rare
synonym: "CCDF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217600, Orphanet:98972]
synonym: "central cloudy corneal dystrophy of François" EXACT [Orphanet:98972]
synonym: "central cloudy dystrophy of Francois" EXACT [MONDO:Lexical, OMIM:217600]
synonym: "central cloudy dystrophy of François" EXACT [Orphanet:98972]
synonym: "corneal dystrophy, central type" RELATED [OMIM:217600]
xref: GARD:16881 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98972", source="Orphanet:98972/attributed", source="Orphanet:98972/ntbt"}
xref: MEDGEN:302006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563262 {source="MONDO:equivalentTo"}
xref: OMIM:217600 {source="Orphanet:98972", source="MONDO:equivalentTo", source="Orphanet:98972/e"}
xref: Orphanet:98972 {source="OMIM:217600", source="MONDO:equivalentTo"}
xref: SCTID:419074008 {source="MONDO:equivalentTo"}
xref: UMLS:C1622427 {source="MONDO:equivalentTo", source="MEDGEN:302006", source="MONDO:MEDGEN"}
is_a: MONDO:0020213 {source="Orphanet:98972-textdef"} ! stromal corneal dystrophy
is_a: MONDO:0020214 {source="Orphanet:98972"} ! posterior corneal dystrophy

[Term]
id: MONDO:0009019
name: congenital hereditary endothelial dystrophy of cornea
def: "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." [https://orcid.org/0000-0001-5208-3432, Orphanet:293603]
subset: gard_rare {source="GARD:6196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293603"}
subset: orphanet_rare {source="Orphanet:293603"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive CHED" EXACT [Orphanet:293603]
synonym: "autosomal recessive congenital hereditary endothelial dystrophy" EXACT [Orphanet:293603]
synonym: "CHED" EXACT ABBREVIATION [DOID:0060649, MESH:C536439]
synonym: "CHED2" EXACT ABBREVIATION [GARD:0006196, MONDO:Lexical, OMIM:217700, Orphanet:293603]
synonym: "CHED2, formerly" RELATED [MESH:C536439]
synonym: "CHEDII" EXACT ABBREVIATION [Orphanet:293603]
synonym: "congenital hereditary endothelial dystrophy of cornea" EXACT [MESH:C536439, OMIM:217700]
synonym: "congenital hereditary endothelial dystrophy of the cornea" RELATED [GARD:0006196, MESH:C536439]
synonym: "congenital hereditary endothelial dystrophy type 2" EXACT [Orphanet:293603]
synonym: "congenital hereditary endothelial dystrophy type II" RELATED [Orphanet:293603]
synonym: "corneal dystrophy, congenital hereditary endothelial" RELATED [GARD:0006196, MESH:C536439, OMIM:217700]
synonym: "corneal endothelial dystrophy" RELATED [MESH:C536439, OMIM:217700]
synonym: "corneal endothelial dystrophy 2" RELATED [MESH:C536439]
synonym: "corneal endothelial dystrophy 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:217700]
synonym: "corneal endothelial dystrophy 2, autosomal recessive, formerly" RELATED [MESH:C536439]
synonym: "corneal endothelial dystrophy type 2" RELATED [GARD:0006196]
synonym: "corneal endothelial dystrophy, autosomal recessive" EXACT [OMIM:217700, OMIM:genemap2]
synonym: "infantile hereditary endothelial dystrophy" EXACT [Orphanet:293603]
synonym: "Maumenee corneal dystrophy" RELATED EXCLUDE [Orphanet:293603]
xref: DOID:0060649 {source="MONDO:equivalentTo"}
xref: GARD:6196 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:293603/attributed", source="Orphanet:293603/ntbt", source="Orphanet:293603"}
xref: MEDGEN:387857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536439 {source="MONDO:equivalentTo"}
xref: OMIM:217700 {source="Orphanet:293603/e", source="MONDO:equivalentTo", source="GARD:0006196", source="DOID:0060649", source="Orphanet:293603"}
xref: Orphanet:293603 {source="MONDO:equivalentTo", source="OMIM:217700", source="GARD:0006196"}
xref: UMLS:C1857569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387857"}
is_a: MONDO:0000766 {source="DOID:0060649"} ! corneal endothelial dystrophy
is_a: MONDO:0020214 {source="Orphanet:293603"} ! posterior corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 {source="MONDO:mim2gene_medgen"} ! SLC4A11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1368" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2" xsd:anyURI {source="GARD:0006196"}

[Term]
id: MONDO:0009020
name: macular corneal dystrophy
def: "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." [Orphanet:98969]
subset: gard_rare {source="GARD:6953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98969"}
subset: orphanet_rare {source="Orphanet:98969"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy Groenouw type II" EXACT [Orphanet:98969]
synonym: "corneal dystrophy, macular type" RELATED [OMIM:217800]
synonym: "Fehr corneal dystrophy" EXACT [DOID:2565, Orphanet:98969]
synonym: "Groenouw type 2 corneal dystrophy" RELATED [OMIM:217800]
synonym: "Groenouw type II corneal dystrophy" RELATED [GARD:0006953]
synonym: "macular corneal dystrophy" EXACT CLINGEN_LABEL []
synonym: "macular corneal dystrophy type 1" RELATED [GARD:0006953]
synonym: "macular corneal dystrophy, type 1" RELATED [OMIM:217800]
synonym: "macular corneal dystrophy, type 2" RELATED [OMIM:217800]
synonym: "macular dystrophy, corneal" RELATED [MONDO:Lexical, OMIM:217800]
synonym: "macular dystrophy, corneal type 1" RELATED [GARD:0006953]
synonym: "macular dystrophy, corneal, 1" EXACT [DOID:2565]
synonym: "MCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217800, Orphanet:98969]
synonym: "Mcdc1" RELATED [OMIM:217800]
synonym: "Mcdc1, formerly" RELATED [OMIM:217800]
xref: DOID:2565 {source="MONDO:equivalentTo"}
xref: GARD:6953 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98969", source="Orphanet:98969/attributed", source="Orphanet:98969/ntbt"}
xref: ICD10CM:H18.55 {source="DOID:2565", source="MONDO:equivalentTo"}
xref: ICD9:371.55 {source="DOID:2565", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10025406 {source="Orphanet:98969", source="Orphanet:98969/e"}
xref: MEDGEN:351514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537834 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: MESH:D003317 {source="DOID:2565"}
xref: NCIT:C34793 {source="DOID:2565", source="MONDO:equivalentTo"}
xref: OMIM:217800 {source="DOID:2565", source="MONDO:equivalentTo", source="Orphanet:98969", source="Orphanet:98969/e"}
xref: Orphanet:98969 {source="MONDO:equivalentTo", source="OMIM:217800"}
xref: SCTID:60258001 {source="DOID:2565", source="MONDO:equivalentTo"}
xref: UMLS:C1636149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351514"}
is_a: MONDO:0018102 {source="DOID:2565/inferred", source="MONDO:Redundant", source="NCIT:C34793", source="Orphanet:98969/inferred"} ! corneal dystrophy
is_a: MONDO:0020213 {source="DOID:2565", source="Orphanet:98969"} ! stromal corneal dystrophy
is_a: MONDO:0020242 ! hereditary macular dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6938 {source="MONDO:mim2gene_medgen"} ! CHST6

[Term]
id: MONDO:0009021
name: Toriello-Carey syndrome
def: "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." [Orphanet:3338]
subset: gard_rare {source="GARD:5225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3338"}
subset: ordo_malformation_syndrome {source="Orphanet:3338"}
subset: orphanet_rare {source="Orphanet:3338"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agenesis of corpus callosum with facial anomalies and Robin sequence" RELATED [GARD:0005225]
synonym: "corpus callosum agenesis facial anomalies Robin sequence" RELATED [GARD:0005225]
synonym: "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome" EXACT [Orphanet:3338]
synonym: "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence" RELATED [OMIM:217980]
synonym: "Toriello-Carey syndrome" EXACT [OMIM:217980]
xref: GARD:5225 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3338", source="Orphanet:3338/attributed", source="Orphanet:3338/ntbt"}
xref: MEDGEN:163225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563127 {source="MONDO:equivalentTo"}
xref: OMIM:217980 {source="MONDO:equivalentTo", source="Orphanet:3338", source="Orphanet:3338/e"}
xref: Orphanet:3338 {source="OMIM:217980", source="MONDO:equivalentTo"}
xref: SCTID:722477003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163225"}
is_a: MONDO:0015160 {source="Orphanet:3338"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome" xsd:anyURI {source="GARD:0005225"}

[Term]
id: MONDO:0009022
name: corpus callosum, agenesis of
def: "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment." [NCIT:C98905]
synonym: "ACC" RELATED ABBREVIATION [OMIM:217990]
synonym: "agenesis of corpus callosum" EXACT [NCIT:C98905]
synonym: "agenesis of the corpus callosum" RELATED [GARD:0001535]
synonym: "corpus callosum agenesis" EXACT [NCIT:C98905]
synonym: "corpus callosum, agenesis of" EXACT [OMIM:217990]
synonym: "isolated corpus callosum agenesis" RELATED [GARD:0001535]
xref: MEDGEN:104498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D061085 {source="MONDO:equivalentTo"}
xref: NCIT:C98905 {source="MONDO:equivalentTo"}
xref: OMIM:217990 {source="MONDO:equivalentTo"}
xref: Orphanet:200 {source="OMIM:217990"}
xref: SCTID:5102002 {source="MONDO:equivalentTo"}
xref: UMLS:C0175754 {source="MEDGEN:104498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="NCIT:C98905"} ! congenital nervous system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009023
name: obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
is_obsolete: true
replaced_by: MONDO:0000902

[Term]
id: MONDO:0009024
name: cortical blindness-intellectual disability-polydactyly syndrome
def: "This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly." [Orphanet:1389]
subset: gard_rare {source="GARD:1548", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1389"}
subset: ordo_malformation_syndrome {source="Orphanet:1389"}
subset: orphanet_rare {source="Orphanet:1389"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cortical blindness, retardation, and postaxial polydactyly" RELATED [OMIM:218010]
xref: GARD:1548 {source="MONDO:GARD"}
xref: MEDGEN:347487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565674 {source="MONDO:equivalentTo"}
xref: OMIM:218010 {source="Orphanet:1389", source="MONDO:equivalentTo", source="Orphanet:1389/e"}
xref: Orphanet:1389 {source="MONDO:equivalentTo", source="OMIM:218010"}
xref: UMLS:C1857568 {source="MEDGEN:347487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1389"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1389", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome" xsd:anyURI {source="GARD:0001548"}

[Term]
id: MONDO:0009025
name: apparent mineralocorticoid excess
def: "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism." [Orphanet:320]
subset: gard_rare {source="GARD:433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320"}
subset: orphanet_rare {source="Orphanet:320"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency" EXACT [NCIT:C131083]
synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT [DOID:0090121, Orphanet:320]
synonym: "AME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218030]
synonym: "AME 1" RELATED [GARD:0000433]
synonym: "Ame1" RELATED [OMIM:218030]
synonym: "APE" EXACT ABBREVIATION [DOID:0090121]
synonym: "apparent mineralocorticoid EXCESS" RELATED [OMIM:218030]
synonym: "apparent mineralocorticoid excess" EXACT [MONDO:Lexical, OMIM:218030]
synonym: "apparent mineralocorticoid excess syndrome" EXACT [MONDO:0006657]
synonym: "cortisol 11-Beta-ketoreductase deficiency" RELATED [OMIM:218030]
synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT [DOID:0090121]
synonym: "syndrome of apparent mineralocorticoid Excess" EXACT [NCIT:C123231]
synonym: "Ulick syndrome" EXACT [DOID:0090121, Orphanet:320]
xref: DOID:0090121 {source="MONDO:equivalentObsolete"}
xref: DOID:4367 {source="EFO:1000817", source="MONDO:equivalentTo"}
xref: GARD:433 {source="MONDO:GARD"}
xref: ICD10CM:E26.1 {source="DOID:0090121", source="Orphanet:320/attributed", source="Orphanet:320/ntbt", source="Orphanet:320"}
xref: ICD9:255.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537422 {source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:320"}
xref: MESH:D043204 {source="DOID:4367", source="Orphanet:320/e", source="EFO:1000817", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"}
xref: NANDO:2100130 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200362 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123231 {source="DOID:4367", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C131083 {source="MONDO:equivalentTo"}
xref: OMIM:218030 {source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"}
xref: Orphanet:320 {source="DOID:0090121", source="MONDO:equivalentTo", source="OMIM:218030"}
xref: SCTID:237770005 {source="DOID:4367", source="EFO:1000817", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:703256004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342488 {source="MONDO:equivalentTo", source="MEDGEN:90983", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C123231"} ! syndromic disease
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:320"} ! adrenal gland disorder
is_a: MONDO:0005523 {source="DOID:4367", source="MESH:D043204"} ! steroid inherited metabolic disorder
relationship: excluded_subClassOf MONDO:0006640 {source="DOID:0090121", source="https://orcid.org/0000-0001-5208-3432"} ! adrenal gland hyperfunction
relationship: excluded_subClassOf MONDO:0015512 {source="Orphanet:320", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic hypertension
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5209 {source="MONDO:mim2gene_medgen"} ! HSD11B2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4993" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess" xsd:anyURI {source="GARD:0000433"}

[Term]
id: MONDO:0009026
name: Costello syndrome
def: "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." [Orphanet:3071]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1011"}
subset: ordo_disorder {source="Orphanet:3071"}
subset: ordo_malformation_syndrome {source="Orphanet:3071"}
subset: orphanet_rare {source="Orphanet:3071"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital myopathy with excess of muscle spindles" EXACT [OMIM:218040, OMIM:genemap2]
synonym: "Costello syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:218040]
synonym: "CSTLO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218040]
synonym: "faciocutaneoskeletal syndrome" EXACT [DOID:0050469, OMIM:218040, Orphanet:3071]
synonym: "FCS syndrome" EXACT [DOID:0050469, Orphanet:3071]
synonym: "myopathy, congenital, with excess of muscle spindles" RELATED [OMIM:218040]
xref: DOID:0050469 {source="MONDO:equivalentTo"}
xref: GARD:1550 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3071", source="Orphanet:3071/attributed", source="Orphanet:3071/ntbt"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10067380 {source="Orphanet:3071", source="Orphanet:3071/e"}
xref: MEDGEN:108454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056685 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="Orphanet:3071/e"}
xref: NANDO:1200463 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200971 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84652 {source="DOID:0050469", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1011 {source="MONDO:NORD"}
xref: OMIM:218040 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="Orphanet:3071/e"}
xref: Orphanet:3071 {source="MONDO:equivalentTo", source="OMIM:218040"}
xref: SCTID:205803001 {source="DOID:0050469"}
xref: SCTID:309776008 {source="DOID:0050469", source="MONDO:equivalentTo"}
xref: UMLS:C0587248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108454"}
is_a: MONDO:0000426 {source="DOID:0050469", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0015159 {source="Orphanet:3071"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020297 {source="Orphanet:3071"} ! Noonan syndrome and Noonan-related syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3071", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019292 {source="Orphanet:3071", source="Orphanet:3071/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dermis elastic tissue disorder
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:218040", source="Orphanet:3071"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5173 {source="MONDO:mim2gene_medgen"} ! HRAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome" xsd:anyURI {source="GARD:0001550"}

[Term]
id: MONDO:0009027
name: cramps, familial adolescent
synonym: "cramps, familial adolescent" EXACT [OMIM:218050]
xref: MEDGEN:347475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:218050 {source="MONDO:equivalentTo"}
xref: UMLS:C1857533 {source="MEDGEN:347475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009028
name: Crane-Heise syndrome
def: "A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." [https://orcid.org/0000-0001-5208-3432, Orphanet:1512]
subset: gard_rare {source="GARD:8428", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1512"}
subset: ordo_malformation_syndrome {source="Orphanet:1512"}
subset: orphanet_rare {source="Orphanet:1512"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" RELATED [OMIM:218090]
synonym: "Crane-Heise syndrome" EXACT [OMIM:218090]
xref: GARD:8428 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:1512", source="Orphanet:1512/attributed", source="Orphanet:1512/ntbt"}
xref: MEDGEN:387847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536452 {source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"}
xref: OMIM:218090 {source="MONDO:equivalentTo", source="Orphanet:1512", source="Orphanet:1512/e"}
xref: Orphanet:1512 {source="OMIM:218090", source="MONDO:equivalentTo"}
xref: SCTID:715991005 {source="MONDO:equivalentTo"}
xref: UMLS:C1857532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387847"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1512", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:1512", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome" xsd:anyURI {source="GARD:0008428"}

[Term]
id: MONDO:0009029
name: cranial nerves, congenital paresis of
synonym: "cranial nerves, congenital paresis of" EXACT [OMIM:218100]
xref: MEDGEN:346609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565673 {source="MONDO:equivalentTo"}
xref: OMIM:218100 {source="MONDO:equivalentTo"}
xref: UMLS:C1857531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346609"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009030
name: cranial nerves, recurrent paresis of
synonym: "cranial nerves, recurrent paresis of" EXACT [OMIM:218200]
xref: MEDGEN:387846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565672 {source="MONDO:equivalentTo"}
xref: OMIM:218200 {source="MONDO:equivalentTo"}
xref: UMLS:C1857530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387846"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009031
name: craniodiaphyseal dysplasia
def: "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." [Orphanet:1513]
subset: gard_rare {source="GARD:1567", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1513"}
subset: ordo_malformation_syndrome {source="Orphanet:1513"}
subset: orphanet_rare {source="Orphanet:1513"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122860, OMIM:218300]
synonym: "craniodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:218300]
synonym: "Lionitis" EXACT [NCIT:C131429]
xref: DOID:0080032 {source="MONDO:equivalentTo"}
xref: GARD:1567 {source="MONDO:GARD"}
xref: ICD10CM:M85.2 {source="Orphanet:1513", source="Orphanet:1513/attributed", source="Orphanet:1513/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562940 {source="MONDO:equivalentTo"}
xref: NANDO:2201368 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131429 {source="MONDO:equivalentTo"}
xref: OMIM:218300 {source="MONDO:equivalentTo", source="Orphanet:1513", source="Orphanet:1513/btnt"}
xref: Orphanet:1513 {source="OMIM:218300", source="MONDO:equivalentTo", source="OMIM:122860"}
xref: SCTID:205506004 {source="MONDO:equivalentTo"}
xref: UMLS:C0410539 {source="MEDGEN:96080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002185 {source="NCIT:C131429"} ! hyperostosis
is_a: MONDO:0015465 ! craniometaphyseal dysplasia
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0011001 ! Increased bone mineral density
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1567/craniodiaphyseal-dysplasia" xsd:anyURI {source="GARD:0001567"}

[Term]
id: MONDO:0009032
name: cranioectodermal dysplasia
def: "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." [Orphanet:1515]
subset: gard_rare {source="GARD:359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1515"}
subset: ordo_malformation_syndrome {source="Orphanet:1515"}
subset: orphanet_rare {source="Orphanet:1515"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CED" EXACT ABBREVIATION [Orphanet:1515]
synonym: "cranioectodermal dysplasia" EXACT [DOID:0050577]
synonym: "Levin syndrome" EXACT [DOID:0050577]
synonym: "Sensenbrenner syndrome" EXACT [MONDO:0000362, Orphanet:1515]
xref: DOID:0050577 {source="MONDO:equivalentTo"}
xref: GARD:359 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:1515/attributed", source="Orphanet:1515/ntbt", source="Orphanet:1515"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1641011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129305 {source="MONDO:equivalentTo"}
xref: OMIMPS:218330 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1515 {source="MONDO:equivalentTo", source="OMIM:218330"}
xref: SCTID:254093009 {source="MONDO:equivalentTo"}
xref: UMLS:C4551571 {source="MEDGEN:1641011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0006025 {source="DOID:0050577", source="MONDO:indirect"} ! autosomal recessive disease
is_a: MONDO:0015338 {source="Orphanet:1515"} ! syndromic craniosynostosis
is_a: MONDO:0015461 {source="Orphanet:1515"} ! short rib-polydactyly syndrome
is_a: MONDO:0015962 {source="Orphanet:1515"} ! inherited renal tubular disease
is_a: MONDO:0019287 {source="Orphanet:1515"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:1515"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:218330"} ! inherited

[Term]
id: MONDO:0009033
name: temtamy syndrome
def: "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." [Orphanet:1777]
subset: gard_rare {source="GARD:5688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1777"}
subset: ordo_malformation_syndrome {source="Orphanet:1777"}
subset: orphanet_rare {source="Orphanet:1777"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" RELATED [GARD:0005688]
synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [Orphanet:1777]
synonym: "Dysmorphism, corpus callosum agenesis and colobomas" RELATED [GARD:0005688]
synonym: "intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED [OMIM:218340]
synonym: "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED DEPRECATED [OMIM:218340]
synonym: "TEMTAMY syndrome" RELATED [OMIM:218340]
synonym: "temtamy syndrome" EXACT [MONDO:Lexical, OMIM:218340]
synonym: "Temtamy-Shalash syndrome" EXACT [Orphanet:1777]
synonym: "TEMTYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218340]
xref: DOID:0111621 {source="MONDO:equivalentTo"}
xref: GARD:5688 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1777", source="Orphanet:1777/attributed", source="Orphanet:1777/ntbt"}
xref: MEDGEN:347474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536959 {source="MONDO:equivalentTo", source="Orphanet:1777", source="Orphanet:1777/e"}
xref: NCIT:C148371 {source="MONDO:equivalentTo"}
xref: OMIM:218340 {source="MONDO:equivalentTo", source="Orphanet:1777", source="Orphanet:1777/e"}
xref: Orphanet:1777 {source="MONDO:equivalentTo", source="OMIM:218340"}
xref: SCTID:719947004 {source="MONDO:equivalentTo"}
xref: UMLS:C1857512 {source="MEDGEN:347474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1777"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1777", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29521 {source="MONDO:mim2gene_medgen"} ! C12orf57
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome" xsd:anyURI {source="GARD:0005688"}

[Term]
id: MONDO:0009034
name: craniofacial dyssynostosis
def: "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus." [Orphanet:1516]
subset: gard_rare {source="GARD:1575", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1516"}
subset: ordo_malformation_syndrome {source="Orphanet:1516"}
subset: orphanet_rare {source="Orphanet:1516"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral lambdoid and sagittal synostosis" RELATED [OMIM:218350]
synonym: "craniofacial dyssynostosis and short stature" RELATED [GARD:0001575]
synonym: "craniofacial dyssynostosis with short stature" RELATED [OMIM:218350]
synonym: "craniosynostosis-craniofacial dysostosis syndrome" RELATED [GARD:0001575]
xref: GARD:1575 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1516", source="Orphanet:1516/attributed", source="Orphanet:1516/ntbt"}
xref: MEDGEN:347473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536455 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="Orphanet:1516"}
xref: OMIM:218350 {source="Orphanet:1516/e", source="MONDO:equivalentTo", source="Orphanet:1516"}
xref: Orphanet:1516 {source="MONDO:equivalentTo", source="OMIM:218350"}
xref: UMLS:C1857511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347473"}
is_a: MONDO:0021147 {source="Orphanet:1516", source="Orphanet:1516/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis" xsd:anyURI {source="GARD:0001575"}

[Term]
id: MONDO:0009035
name: craniometaphyseal dysplasia, autosomal recessive
def: "Autosomal recessive form of craniometaphyseal dysplasia." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:1582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive craniometaphyseal dysplasia" EXACT [MONDO:design_pattern]
synonym: "CMDR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218400]
synonym: "craniometaphyseal dysplasia, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:218400]
synonym: "craniometaphyseal dysplasia, autosomal recessive type" RELATED [GARD:0001582]
xref: DOID:0080802 {source="MONDO:equivalentTo"}
xref: GARD:1582 {source="MONDO:GARD"}
xref: MEDGEN:419753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536570 {source="MONDO:equivalentTo"}
xref: OMIM:218400 {source="MONDO:equivalentTo"}
xref: Orphanet:1522 {source="OMIM:218400"}
xref: UMLS:C2931244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419753"}
is_a: MONDO:0015465 {source="DC-OMIM:218400", source="MONDO:Entailed", source="MONDO:Redundant"} ! craniometaphyseal dysplasia
intersection_of: MONDO:0015465 {source="MONDO:mim2gene_medgen"} ! craniometaphyseal dysplasia
intersection_of: has_characteristic HP:0000007 {source="MONDO:mim2gene_medgen"} ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009036
name: cardiocranial syndrome, Pfeiffer type
def: "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." [Orphanet:2872]
subset: gard_rare {source="GARD:8586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2872"}
subset: ordo_malformation_syndrome {source="Orphanet:2872"}
subset: orphanet_rare {source="Orphanet:2872"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cardiocranial syndrome" RELATED [GARD:0008586]
synonym: "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis" RELATED [OMIM:218450]
synonym: "craniosynostosis-congenital heart disease-intellectual disability syndrome" EXACT [Orphanet:2872]
synonym: "Pfeiffer Cardiocranial syndrome" RELATED [OMIM:218450]
synonym: "Pfeiffer Singer Zschiesche syndrome" RELATED [GARD:0008586]
synonym: "Pfeiffer-Singer-Zschiesche syndrome" EXACT [Orphanet:2872]
synonym: "Pfeiffer-type cardiocranial syndrome" RELATED [GARD:0008586]
synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" EXACT [Orphanet:2872]
xref: GARD:8586 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2872", source="Orphanet:2872/attributed", source="Orphanet:2872/ntbt"}
xref: MEDGEN:346598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535578 {source="MONDO:equivalentTo"}
xref: OMIM:218450 {source="Orphanet:2872", source="MONDO:equivalentTo", source="Orphanet:2872/e"}
xref: Orphanet:2872 {source="MONDO:equivalentTo", source="OMIM:218450"}
xref: SCTID:720606005 {source="MONDO:equivalentTo"}
xref: UMLS:C1857495 {source="MEDGEN:346598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2872"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:2872"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2872", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0009037
name: craniosynostosis with anomalies of the cranial base and digits
synonym: "craniosynostosis with anomalies of the cranial base and digits" EXACT [OMIM:218530]
xref: MEDGEN:347469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565666 {source="MONDO:equivalentTo"}
xref: OMIM:218530 {source="MONDO:equivalentTo"}
xref: UMLS:C1857493 {source="MONDO:equivalentTo", source="MEDGEN:347469", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009038
name: craniosynostosis-fibular aplasia syndrome
def: "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972." [Orphanet:1533]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1533"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis with fibular aplasia" RELATED [OMIM:218550]
synonym: "Lowry syndrome" EXACT [Orphanet:1533]
xref: ICD10CM:Q87.2 {source="Orphanet:1533", source="Orphanet:1533/attributed", source="Orphanet:1533/ntbt"}
xref: MEDGEN:347468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565665 {source="MONDO:equivalentTo"}
xref: OMIM:218550 {source="MONDO:equivalentTo", source="Orphanet:1533", source="Orphanet:1533/e"}
xref: Orphanet:1533 {source="MONDO:equivalentObsolete", source="OMIM:218550"}
xref: SCTID:732250002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857492 {source="MEDGEN:347468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:1533"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:4403018", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0009039
name: Baller-Gerold syndrome
def: "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)." [Orphanet:1225]
subset: gard_rare {source="GARD:1602", source="MONDO:GARD"}
subset: nord_rare {source="NORD:834", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1225"}
subset: ordo_malformation_syndrome {source="Orphanet:1225"}
subset: orphanet_rare {source="Orphanet:1225"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BALLER-Gerold syndrome" RELATED [OMIM:218600]
synonym: "Baller-Gerold syndrome" EXACT [MONDO:Lexical, OMIM:218600]
synonym: "BGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218600]
synonym: "craniosynostosis with radial defects" RELATED [OMIM:218600]
synonym: "craniosynostosis-radial aplasia syndrome" RELATED [OMIM:218600]
xref: DOID:0050654 {source="MONDO:equivalentTo"}
xref: GARD:1602 {source="MONDO:GARD"}
xref: ICD10CM:Q75.0 {source="Orphanet:1225", source="Orphanet:1225/attributed", source="Orphanet:1225/ntbt"}
xref: MEDGEN:120532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536788 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"}
xref: NANDO:1201059 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:834 {source="MONDO:NORD"}
xref: OMIM:218600 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"}
xref: Orphanet:1225 {source="OMIM:218600", source="MONDO:equivalentTo"}
xref: SCTID:77608001 {source="DOID:0050654", source="MONDO:equivalentTo"}
xref: UMLS:C0265308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120532"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015338 {source="Orphanet:1225", source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:20301383", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9949 {source="MONDO:mim2gene_medgen"} ! RECQL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome" xsd:anyURI {source="GARD:0001602"}

[Term]
id: MONDO:0009040
name: craniosynostosis-intellectual disability syndrome of 51N and Gettig
synonym: "craniosynostosis-intellectual disability syndrome of Lin and Gettig" RELATED [GARD:0010282, OMIM:218649]
synonym: "craniosynostosis-mental retardation syndrome of Lin and Gettig" RELATED DEPRECATED [OMIM:218649]
synonym: "Lin-Gettig syndrome" RELATED [GARD:0010282]
xref: MEDGEN:341781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565664 {source="MONDO:equivalentTo"}
xref: OMIM:218649 {source="MONDO:equivalentTo"}
xref: UMLS:C1857473 {source="MEDGEN:341781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009041
name: craniosynostosis-intellectual disability-clefting syndrome
def: "A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose." [https://orcid.org/0000-0001-5208-3432, PMID:7172471]
synonym: "Baraitser Rodeck garner syndrome" EXACT [GARD:0000817, MESH:C537906]
synonym: "craniosynostosis intellectual disability clefting syndrome" RELATED [GARD:0001599]
synonym: "craniosynostosis mental retardation clefting syndrome" RELATED DEPRECATED [GARD:0001599]
synonym: "craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose" RELATED [GARD:0000817]
synonym: "craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose" RELATED DEPRECATED [GARD:0000817]
synonym: "craniosynostosis-intellectual disability-clefting syndrome" EXACT [OMIM:218650]
synonym: "craniosynostosis-mental retardation-clefting syndrome" EXACT DEPRECATED [OMIM:218650]
xref: MEDGEN:387829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537906 {source="MONDO:equivalentTo"}
xref: MESH:C565663 {source="MONDO:equivalentTo"}
xref: OMIM:218650 {source="MONDO:equivalentTo", source="GARD:0000817"}
xref: UMLS:C1857472 {source="MEDGEN:387829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537906", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
relationship: excluded_subClassOf MONDO:0001476 {source="MESH:C537906", source="https://orcid.org/0000-0001-5208-3432"} ! coloboma
relationship: excluded_subClassOf MONDO:0002473 {source="MESH:C537906", source="https://orcid.org/0000-0001-5208-3432"} ! cystic kidney disease
relationship: excluded_subClassOf MONDO:0004747 {source="MESH:C537906", source="https://orcid.org/0000-0001-5208-3432"} ! cleft lip
relationship: excluded_subClassOf MONDO:0016064 {source="MESH:C537906", source="https://orcid.org/0000-0001-5208-3432"} ! cleft palate

[Term]
id: MONDO:0009042
name: craniotelencephalic dysplasia
def: "Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983." [Orphanet:1528]
subset: gard_rare {source="GARD:1605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1528"}
subset: ordo_malformation_syndrome {source="Orphanet:1528"}
subset: orphanet_rare {source="Orphanet:1528"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Complex of anomalies involving the cranium and brain" RELATED [GARD:0001605]
synonym: "craniotelencephalic dysplasia" EXACT [OMIM:218670]
xref: GARD:1605 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:1528/attributed", source="Orphanet:1528/ntbt", source="Orphanet:1528"}
xref: MEDGEN:347462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535597 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"}
xref: OMIM:218670 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"}
xref: Orphanet:1528 {source="MONDO:equivalentTo", source="OMIM:218670"}
xref: SCTID:715422002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347462"}
is_a: MONDO:0015338 {source="Orphanet:1528"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis
is_a: MONDO:0018838 {source="MONDO:0015147-obsoleted"} ! lissencephaly spectrum disorders
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia" xsd:anyURI {source="GARD:0001605"}

[Term]
id: MONDO:0009043
name: generalized resistance to thyroid hormone
def: "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues." [https://orcid.org/0000-0002-6601-2165, PMID:8475937]
subset: gard_rare {source="GARD:301", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness-thyroid hormone resistance syndrome" NARROW [Orphanet:3221]
synonym: "GRTH" EXACT ABBREVIATION [PMID:8475937]
synonym: "Refetoff syndrome" EXACT [Orphanet:3221]
xref: GARD:301 {source="MONDO:GARD"}
xref: ICD10CM:E07.8 {source="Orphanet:3221", source="Orphanet:3221/attributed", source="Orphanet:3221/ntbt"}
xref: MEDGEN:1654700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3221 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4722330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1654700"}
is_a: MONDO:0001328 {source="PMID:8475937", source="https://orcid.org/0000-0002-6601-2165"} ! thyroid hormone resistance syndrome
is_a: MONDO:0004425 {source="Orphanet:3221"} ! hyperthyroidism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare

[Term]
id: MONDO:0009044
name: Crigler-Najjar syndrome
def: "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." [Orphanet:205]
subset: gard_rare {source="GARD:16526", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1016"}
subset: ordo_disorder {source="Orphanet:205"}
subset: orphanet_rare {source="Orphanet:205"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilirubin UDP glucuronyl transferase deficiency" EXACT [DOID:3803]
synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency" EXACT [Orphanet:205]
synonym: "bilirubin-UGT deficiency" EXACT [Orphanet:205]
synonym: "Crigler Najjar Syndrome" EXACT [NORD:1016]
synonym: "Crigler Najjar syndrome" EXACT [DOID:3803]
synonym: "Crigler-Najjar syndrome" EXACT [OMIM:218800]
synonym: "Crigler-Najjar syndrome, type I" RELATED EXCLUDE [DOID:3803]
synonym: "hereditary unconjugated hyperbilirubinemia" EXACT [Orphanet:205]
synonym: "UGT deficiency" EXACT [Orphanet:205]
xref: DOID:3803 {source="MONDO:equivalentTo"}
xref: GARD:16526 {source="MONDO:GARD"}
xref: ICD10CM:E80.5 {source="MONDO:equivalentTo", source="Orphanet:205/e", source="Orphanet:205/specific"}
xref: icd11.foundation:291439191 {source="Orphanet:205", source="MONDO:equivalentTo"}
xref: MedDRA:10011386 {source="Orphanet:205", source="Orphanet:205/e"}
xref: MEDGEN:1789261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003414 {source="Orphanet:205", source="MONDO:equivalentTo", source="Orphanet:205/e", source="DOID:3803"}
xref: NANDO:2100272 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200941 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84656 {source="MONDO:equivalentTo", source="DOID:3803"}
xref: NORD:1016 {source="MONDO:NORD"}
xref: Orphanet:205 {source="MONDO:equivalentTo", source="OMIM:218800"}
xref: SCTID:190933008 {source="DOID:3803"}
xref: SCTID:28259009 {source="MONDO:equivalentTo", source="DOID:3803"}
xref: SCTID:8933000 {source="DOID:3803"}
xref: UMLS:C5551003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1789261"}
is_a: MONDO:0002254 {source="NCIT:C84656"} ! syndromic disease
is_a: MONDO:0002408 {source="DC-OMIM:218800", source="DOID:3803", source="MESH:D003414", source="NCIT:C84656"} ! hereditary hyperbilirubinemia
is_a: MONDO:0005066 {source="Orphanet:205"} ! metabolic disease
is_a: MONDO:0017755 {source="MONDO:Redundant", source="Orphanet:205"} ! inborn disorder of bilirubin metabolism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare

[Term]
id: MONDO:0009045
name: cataract-nephropathy-encephalopathy syndrome
def: "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." [Orphanet:1380]
subset: gard_rare {source="GARD:1614", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1380"}
subset: ordo_malformation_syndrome {source="Orphanet:1380"}
subset: orphanet_rare {source="Orphanet:1380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital cataracts, renal tubular necrosis and encephalopathy in two sisters" RELATED [GARD:0001614]
synonym: "crome syndrome" EXACT [OMIM:218900, Orphanet:1380]
xref: GARD:1614 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1380/attributed", source="Orphanet:1380/ntbt", source="Orphanet:1380"}
xref: MEDGEN:167082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536216 {source="MONDO:equivalentTo"}
xref: OMIM:218900 {source="Orphanet:1380/e", source="MONDO:equivalentTo", source="Orphanet:1380"}
xref: Orphanet:1380 {source="MONDO:equivalentTo", source="OMIM:218900"}
xref: SCTID:722381004 {source="MONDO:equivalentTo"}
xref: UMLS:C0795914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167082"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1380", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009046
name: Fraser syndrome
def: "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." [Orphanet:2052]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6465", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1160", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2052"}
subset: ordo_malformation_syndrome {source="Orphanet:2052"}
subset: orphanet_rare {source="Orphanet:2052"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "cryptophthalmos syndrome" RELATED [GARD:0006465]
synonym: "cryptophthalmos with Other malformations" RELATED [OMIM:219000]
synonym: "cryptophthalmos with other malformations" EXACT [DOID:0090001]
synonym: "cryptophthalmos-syndactyly syndrome" EXACT [OMIM:219000, Orphanet:2052]
synonym: "cyclopism" RELATED [GARD:0006465]
synonym: "Fraser syndrome" EXACT CLINGEN_LABEL [OMIM:219000]
synonym: "Fraser-Francois syndrome" RELATED [GARD:0006465]
synonym: "Meyer-Schwickerath's syndrome" RELATED [GARD:0006465]
synonym: "Ulrich-Feichtiger syndrome" RELATED [GARD:0006465]
xref: DOID:0090001 {source="MONDO:equivalentTo"}
xref: GARD:6465 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="DOID:0090001", source="Orphanet:2052/attributed", source="Orphanet:2052/ntbt", source="Orphanet:2052"}
xref: icd11.foundation:968262849 {source="MONDO:equivalentTo", source="Orphanet:2052"}
xref: MEDGEN:82692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058497 {source="Orphanet:2052/e", source="MONDO:equivalentTo", source="Orphanet:2052"}
xref: NCIT:C118436 {source="MONDO:equivalentTo"}
xref: NORD:1160 {source="MONDO:NORD"}
xref: OMIMPS:219000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2052 {source="DOID:0090001", source="MONDO:equivalentTo", source="OMIM:219000"}
xref: SCTID:204102004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82692"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118436"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0090001", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015161 {source="Orphanet:2052"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0020153 {source="Orphanet:2052"} ! cryptophthalmia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:219000", source="Orphanet:2052"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:219000"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome" xsd:anyURI {source="GARD:0006465"}

[Term]
id: MONDO:0009047
name: cryptorchidism
def: "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "cryptorchidism" EXACT [MONDO:ambiguous]
synonym: "cryptorchidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cryptorchidism, unilateral or bilateral" RELATED [OMIM:219050]
synonym: "cryptorchism" EXACT [DOID:11383]
synonym: "undescended testes" EXACT [NCIT:C12326]
synonym: "undescended testicle" EXACT [DOID:11383]
synonym: "undescended testicles" EXACT [DOID:11383, NCIT:C12326]
synonym: "undescended testis" EXACT [DOID:11383, ICD9CM:752.51, OMIM:219050]
xref: DOID:11383 {source="EFO:0004562", source="MONDO:equivalentTo"}
xref: EFO:0004562 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000028 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q53.9 {source="DOID:11383"}
xref: ICD9:752.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:752.51 {source="EFO:0004562", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11383"}
xref: MEDGEN:8192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003456 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383"}
xref: NCIT:C12326 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383"}
xref: OMIM:219050 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383"}
xref: SCTID:127907005 {source="EFO:0004562"}
xref: SCTID:156967003 {source="DOID:11383"}
xref: SCTID:204878001 {source="MONDO:equivalentTo", source="DOID:11383"}
xref: SCTID:204879009 {source="DOID:11383"}
xref: SCTID:204882004 {source="DOID:11383"}
xref: SCTID:268226005 {source="DOID:11383"}
xref: SCTID:367721002 {source="DOID:11383"}
xref: SCTID:37501009 {source="DOID:11383"}
xref: UMLS:C0010417 {source="MEDGEN:8192", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="MESH:D003456/inferred", source="MONDO:Redundant", source="NCIT:C12326/inferred"} ! male reproductive system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_location UBERON:0000079 {source="EFO:0000784"} ! male reproductive system
property_value: IAO:0000589 "cryptorchidism (disease)" xsd:string

[Term]
id: MONDO:0009048
name: curved nail of fourth toe
synonym: "claw-like fingers and toes" RELATED [OMIM:219070]
synonym: "curved nail of fourth toe" EXACT [OMIM:219070]
xref: MEDGEN:347457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:219070 {source="MONDO:equivalentTo"}
xref: UMLS:C1857452 {source="MEDGEN:347457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009049
name: Cushing syndrome due to macronodular adrenal hyperplasia
def: "A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS." [https://orcid.org/0000-0001-5208-3432, Orphanet:189427]
subset: gard_rare {source="GARD:10824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:189427"}
subset: orphanet_rare {source="Orphanet:189427"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "ACTH-independent Cushing syndrome" BROAD [MESH:C565662]
synonym: "ACTH-independent macronodular adrenocortical hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080, Orphanet:189427]
synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080]
synonym: "AIMAH" RELATED ABBREVIATION [GARD:0010824, MESH:C565662]
synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080]
synonym: "massive macronodular adrenocortical disease" RELATED [GARD:0010824]
synonym: "MMAD" RELATED ABBREVIATION [GARD:0010824]
synonym: "primary bilateral macronodular adrenal hyperplasia" EXACT [Orphanet:189427]
synonym: "primary macronodular adrenal hyperplasia" RELATED [GARD:0010824]
xref: DOID:0111622 {source="MONDO:equivalentTo"}
xref: EFO:0009041 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10824 {source="MONDO:GARD"}
xref: ICD10CM:E24.8 {source="Orphanet:189427", source="Orphanet:189427/attributed", source="Orphanet:189427/ntbt"}
xref: MEDGEN:923388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565662 {source="MONDO:equivalentTo"}
xref: NANDO:2200353 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:189427 {source="OMIM:219080", source="MONDO:equivalentTo", source="GARD:0010824"}
xref: SCTID:720459002 {source="MONDO:equivalentTo"}
xref: UMLS:C2062388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:923388"}
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:189427"} ! adrenal gland disorder
is_a: MONDO:0018912 {source="MESH:C565662", source="MONDO:0009049/inferred", source="MONDO:Redundant", source="Orphanet:189427"} ! Cushing syndrome
is_a: MONDO:0020529 {source="https://orcid.org/0000-0002-6601-2165"} ! ACTH-independent Cushing syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia" xsd:anyURI {source="GARD:0010824"}

[Term]
id: MONDO:0009050
name: Cushing disease due to pituitary adenoma
def: "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." []
subset: gard_rare {source="GARD:12867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96253"}
subset: orphanet_rare {source="Orphanet:96253"}
subset: rare
synonym: "ACTH producing pituitary adenoma" EXACT [NCIT:C113210]
synonym: "ACTH-producing pituitary adenoma" RELATED EXCLUDE [DOID:7004]
synonym: "ACTH-secreting pituitary adenoma" RELATED [DOID:7004]
synonym: "corticotroph adenoma" RELATED [DOID:7004, MONDO:patterns/location]
synonym: "corticotroph pituitary adenoma" EXACT [Orphanet:96253]
synonym: "Corticotropinoma" RELATED [DOID:7004, NCIT:C7462]
synonym: "Cushing disease" RELATED [GARD:0012867]
synonym: "Cushing disease, pituitary" EXACT [OMIM:219090]
synonym: "Cushing's disease" RELATED [GARD:0012867]
synonym: "PITA4" EXACT ABBREVIATION [OMIM:219090]
synonym: "pituitary adenoma 4, ACTH-secreting" EXACT [OMIM:219090]
synonym: "pituitary adenoma 4, ACTH-secreting, somatic" EXACT [OMIM:219090, OMIM:genemap2]
synonym: "pituitary adenoma, ACTH-secreting" EXACT [OMIM:219090]
synonym: "pituitary corticotroph micro-adenoma" EXACT [Orphanet:96253]
synonym: "pituitary dependent Cushing syndrome" EXACT [GARD:0012867]
synonym: "pituitary-dependent Cushing syndrome" EXACT [Orphanet:96253]
xref: DOID:7004 {source="MONDO:equivalentTo"}
xref: GARD:12867 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:96253/ntbt", source="Orphanet:96253"}
xref: ICD10CM:E24.0 {source="MONDO:relatedTo", source="Orphanet:96253/e", source="Orphanet:96253"}
xref: icd11.foundation:380861892 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:96253"}
xref: MedDRA:10035109 {source="Orphanet:96253/e", source="Orphanet:96253"}
xref: MEDGEN:66381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D047748 {source="MONDO:relatedTo", source="Orphanet:96253/e", source="Orphanet:96253"}
xref: MESH:D049913 {source="DOID:7004", source="MONDO:equivalentTo"}
xref: NANDO:1200379 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200350 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C113210 {source="MONDO:equivalentTo"}
xref: NCIT:C7462 {source="DOID:7004", source="MONDO:directSiblingOf"}
xref: OMIM:219090 {source="DOID:7004", source="Orphanet:96253/e", source="MONDO:equivalentTo", source="Orphanet:96253"}
xref: Orphanet:96253 {source="OMIM:219090", source="MONDO:equivalentTo"}
xref: SCTID:21109002 {source="DOID:7004"}
xref: SCTID:254958004 {source="DOID:7004", source="MONDO:equivalentTo"}
xref: UMLS:C0221406 {source="MEDGEN:66381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003429 {source="DOID:7004", source="Orphanet:96253"} ! functioning pituitary gland adenoma
is_a: MONDO:0017824 {source="DOID:7004/inferred", source="MONDO:0009050/inferred", source="MONDO:Redundant", source="OMIM:219090", source="Orphanet:96253/inferred"} ! familial isolated pituitary adenoma
is_a: MONDO:0020528 {source="Orphanet:96253"} ! ACTH-dependent Cushing syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12867/acth-secreting-pituitary-adenoma" xsd:anyURI {source="GARD:0012867"}

[Term]
id: MONDO:0009051
name: cutaneous photosensitivity-lethal colitis syndrome
def: "Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991." [Orphanet:2881]
subset: gard_rare {source="GARD:1633", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2881"}
subset: orphanet_rare {source="Orphanet:2881"}
subset: rare
synonym: "cutaneous photosensitivity and colitis, lethal" RELATED [OMIM:219095]
synonym: "early cutaneous photosensitivity and severe colitis" RELATED [GARD:0001633]
xref: GARD:1633 {source="MONDO:GARD"}
xref: ICD10CM:L57.8 {source="Orphanet:2881", source="Orphanet:2881/ntbt"}
xref: MEDGEN:347455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536224 {source="Orphanet:2881", source="MONDO:equivalentTo", source="Orphanet:2881/e"}
xref: OMIM:219095 {source="Orphanet:2881", source="MONDO:equivalentTo", source="Orphanet:2881/e"}
xref: Orphanet:2881 {source="MONDO:equivalentTo", source="OMIM:219095"}
xref: UMLS:C1857449 {source="MEDGEN:347455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="Orphanet:2881"} ! inflammatory bowel disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015187"} ! rare

[Term]
id: MONDO:0009052
name: cutis laxa, autosomal recessive, type 1A
def: "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32." [DOID:0070135]
subset: gard_rare {source="GARD:15157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCL1" BROAD ABBREVIATION [OMIM:219100]
synonym: "ARCL1A" EXACT ABBREVIATION [DOID:0070135, MONDO:Lexical, OMIM:219100]
synonym: "autosomal recessive cutis laxa type IA" RELATED [DOID:0070135]
synonym: "cutis laxa, autosomal recessive" RELATED [OMIM:219100]
synonym: "cutis laxa, autosomal recessive, type IA" RELATED [MONDO:Lexical, OMIM:219100]
xref: DOID:0070135 {source="MONDO:equivalentTo"}
xref: GARD:15157 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070135"}
xref: MEDGEN:78663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562628 {source="MONDO:equivalentTo"}
xref: OMIM:219100 {source="DOID:0070135", source="MONDO:equivalentTo"}
xref: Orphanet:90349 {source="OMIM:219100"}
xref: SCTID:59451000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78663"}
is_a: MONDO:0019572 {source="DOID:0070135", source="Orphanet:90349/btnt"} ! autosomal recessive cutis laxa type 1
is_a: MONDO:0100237 {source="DOID:0070135/inferred", source="MESH:C562628", source="MONDO:Redundant", source="OMIM:219100", source="OMIM:219100/inferred"} ! inherited cutis laxa
intersection_of: MONDO:0100237 ! inherited cutis laxa
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3327 ! ELN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 {source="MONDO:mim2gene_medgen"} ! FBLN5

[Term]
id: MONDO:0009053
name: ALDH18A1-related de Barsy syndrome
def: "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." [Orphanet:35664]
subset: gard_rare {source="GARD:16638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:35664"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:35664"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCL3A" EXACT ABBREVIATION [DOID:0070132, MONDO:Lexical, OMIM:219150]
synonym: "autosomal recessive cutis laxa type IIIA" RELATED [DOID:0070132]
synonym: "cutis laxa, autosomal recessive, type 3A" RELATED [OMIM:219150]
synonym: "cutis laxa, autosomal recessive, type IIIA" RELATED [MONDO:Lexical, OMIM:219150]
synonym: "cutis laxa, corneal clouding, and intellectual disability" RELATED [OMIM:219150]
synonym: "cutis laxa, corneal clouding, and mental retardation" RELATED DEPRECATED [OMIM:219150]
synonym: "De Barsy syndrome A" EXACT [DOID:0070132]
synonym: "De Barsy syndrome a" RELATED [OMIM:219150]
synonym: "Delta-1-pyrroline 5-carboxylate synthetase deficiency" EXACT [Orphanet:35664]
synonym: "neurocutaneous syndrome, Bicknell type" EXACT [Orphanet:35664]
synonym: "P5CS deficiency" BROAD [Orphanet:35664]
synonym: "progeroid syndrome of De Barsy" RELATED [OMIM:219150]
xref: DOID:0070132 {source="MONDO:equivalentTo"}
xref: GARD:16638 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070132"}
xref: ICD10CM:Q87.8 {source="Orphanet:35664/attributed", source="Orphanet:35664/ntbt", source="Orphanet:35664"}
xref: ICD9:371.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1720006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:219150 {source="DOID:0070132", source="Orphanet:35664/e", source="MONDO:equivalentTo", source="Orphanet:35664"}
xref: Orphanet:2962 {source="OMIM:219150"}
xref: Orphanet:35664 {source="DOID:0070132", source="MONDO:equivalentTo", source="OMIM:219150"}
xref: SCTID:59252009 {source="MONDO:equivalentTo"}
xref: UMLS:C5234852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720006"}
is_a: MONDO:0017569 {source="DOID:0070132", source="Orphanet:35664"} ! de Barsy syndrome
is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency
is_a: MONDO:0100237 {source="DOID:0070132/inferred", source="MONDO:Redundant", source="OMIM:219150", source="Orphanet:35664/inferred"} ! inherited cutis laxa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="MONDO:mim2gene_medgen"} ! ALDH18A1

[Term]
id: MONDO:0009054
name: autosomal recessive cutis laxa type 2, classic type
subset: gard_rare {source="GARD:17546", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:357074"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADCL2" RELATED ABBREVIATION [DOID:0070136]
synonym: "Arcl2" RELATED [OMIM:219200]
synonym: "ARCL2, classic type" EXACT [DOID:0070141, Orphanet:357074]
synonym: "ARCL2, Debre type" EXACT [DOID:0070141, Orphanet:357074]
synonym: "ARCL2, Debré type" EXACT [Orphanet:357074]
synonym: "ARCL2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:219200]
synonym: "autosomal recessive cutis laxa type 2, Debre type" EXACT [Orphanet:357074]
synonym: "autosomal recessive cutis laxa type 2, Debré type" EXACT [Orphanet:357074]
synonym: "autosomal recessive cutis laxa type II classic type" RELATED [DOID:0070141]
xref: DOID:0070136 {source="MONDO:relatedTo"}
xref: DOID:0070141 {source="MONDO:equivalentTo"}
xref: GARD:17546 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070141", source="DOID:0070136", source="Orphanet:357074/attributed", source="Orphanet:357074/ntbt", source="Orphanet:357074"}
xref: MEDGEN:1825992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562632 {source="MONDO:equivalentTo"}
xref: Orphanet:357058 {source="OMIM:219200"}
xref: Orphanet:357074 {source="DOID:0070141", source="MONDO:equivalentTo", source="OMIM:219200"}
xref: SCTID:73856006 {source="MONDO:equivalentTo"}
xref: UMLS:C5679922 {source="MEDGEN:1825992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100237 {source="DOID:0070136/inferred", source="DOID:0070141", source="MESH:C562632", source="OMIM:219200", source="Orphanet:357074/inferred"} ! inherited cutis laxa
relationship: excluded_subClassOf MONDO:0018163 {source="Orphanet:357074", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive cutis laxa type 2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5048" xsd:anyURI

[Term]
id: MONDO:0009055
name: cutis marmorata telangiectatica congenita
def: "Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin." [Orphanet:1556]
subset: gard_rare {source="GARD:6228", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1556"}
subset: ordo_malformation_syndrome {source="Orphanet:1556"}
subset: orphanet_rare {source="Orphanet:1556"}
subset: rare
synonym: "CMTC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:219250, Orphanet:1556]
synonym: "cutis marmorata telangiectatica congenita" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:219250]
synonym: "cutis marmorata telangiectatica congenita (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hereditary cutis marmorata telangiectatica congenita" RELATED [GARD:0006228]
synonym: "Van Lohuizen syndrome" RELATED [GARD:0006228]
xref: GARD:6228 {source="MONDO:GARD"}
xref: HP:0025107 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q82.8 {source="Orphanet:1556", source="Orphanet:1556/ntbt"}
xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536226 {source="MONDO:equivalentTo", source="Orphanet:1556", source="Orphanet:1556/e"}
xref: OMIM:219250 {source="MONDO:equivalentTo", source="Orphanet:1556", source="Orphanet:1556/e"}
xref: Orphanet:1556 {source="MONDO:equivalentTo", source="OMIM:219250"}
xref: SCTID:254778000 {source="MONDO:equivalentTo"}
xref: UMLS:C0345419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83381"}
is_a: MONDO:0016231 {source="Orphanet:1556"} ! capillary malformation
is_a: MONDO:0019293 {source="MESH:C536226", source="Orphanet:1556"} ! skin vascular disease
property_value: IAO:0000589 "cutis marmorata telangiectatica congenita (disease)" xsd:string

[Term]
id: MONDO:0009056
name: cutis verticis gyrata and intellectual disability
synonym: "cutis verticis gyrata and intellectual disability" EXACT [MONDO:Lexical, OMIM:219300]
synonym: "cutis verticis gyrata and mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:219300]
synonym: "cutis verticis gyrata-intellectual disability syndrome" EXACT [Orphanet:1557]
synonym: "CVG/MR" RELATED DEPRECATED [MONDO:Lexical, OMIM:219300]
xref: MEDGEN:387821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:219300 {source="MONDO:equivalentTo"}
xref: Orphanet:1557 {source="OMIM:219300", source="MONDO:equivalentObsolete"}
xref: UMLS:C1857444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387821"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009057
name: cyanosis and hepatic disease
synonym: "cyanosis and hepatic disease" EXACT [OMIM:219400]
xref: MEDGEN:387820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565660 {source="MONDO:equivalentTo"}
xref: OMIM:219400 {source="MONDO:equivalentTo"}
xref: UMLS:C1857443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387820"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009058
name: cystathioninuria
def: "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases." [Orphanet:212]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2428", source="MONDO:GARD"}
subset: mostly_harmless {source="PMID:29884839"}
subset: ordo_disorder {source="Orphanet:212"}
subset: orphanet_rare {source="Orphanet:212"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cystathionase deficiency" EXACT [DOID:0090142, OMIM:219500, Orphanet:212]
synonym: "Cystathione gamma-lyase deficiency syndrome" EXACT [Orphanet:212]
synonym: "cystathione gamma-lyase deficiency syndrome" EXACT [DOID:0090142]
synonym: "cystathioninuria" EXACT CLINGEN_LABEL [MONDO:ambiguous, OMIM:219500]
synonym: "cystathioninuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "gamma-cystathionase deficiency" EXACT [DOID:0090142, Orphanet:212]
xref: DOID:0090142 {source="MONDO:equivalentTo"}
xref: GARD:2428 {source="MONDO:GARD"}
xref: HP:0003153 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E72.1 {source="DOID:0090142", source="Orphanet:212/ntbt", source="Orphanet:212/inclusion", source="Orphanet:212"}
xref: MEDGEN:66353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535408 {source="DOID:0090142", source="Orphanet:212/e", source="Orphanet:212"}
xref: NCIT:C129070 {source="MONDO:equivalentTo"}
xref: OMIM:219500 {source="DOID:0090142", source="Orphanet:212/e", source="MONDO:equivalentTo", source="Orphanet:212"}
xref: Orphanet:212 {source="DOID:0090142", source="OMIM:219500", source="MONDO:equivalentTo"}
xref: SCTID:13003007 {source="MONDO:equivalentTo"}
xref: UMLS:C0220993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66353"}
is_a: MONDO:0004736 {source="DOID:0090142", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019222 {source="Orphanet:212"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2501 {source="MONDO:mim2gene_medgen"} ! CTH
property_value: IAO:0000589 "cystathioninuria (disease)" xsd:string

[Term]
id: MONDO:0009059
name: cysteine Peptiduria
synonym: "cysteine Peptiduria" EXACT [OMIM:219550]
xref: MEDGEN:346587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565659 {source="MONDO:equivalentTo"}
xref: OMIM:219550 {source="MONDO:equivalentTo"}
xref: UMLS:C1857438 {source="MEDGEN:346587", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565659/inferred"} ! hereditary disease

[Term]
id: MONDO:0009060
name: cystic disease of lung
synonym: "cystic disease of lung" EXACT [OMIM:219600]
xref: MEDGEN:640840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563237 {source="MONDO:equivalentTo"}
xref: OMIM:219600 {source="MONDO:equivalentTo"}
xref: UMLS:C0555214 {source="MEDGEN:640840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009061
name: cystic fibrosis
def: "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." [Orphanet:586, Wikipedia:Cystic_fibrosis]
subset: gard_rare {source="GARD:6233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1026"}
subset: ordo_disorder {source="Orphanet:586"}
subset: orphanet_rare {source="Orphanet:586"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CF" EXACT ABBREVIATION [DOID:1485, MONDO:Lexical, OMIM:219700, Orphanet:586]
synonym: "cystic fibrosis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:219700]
synonym: "cystic fibrosis lung disease, modifier of" EXACT [OMIM:219700, OMIM:genemap2]
synonym: "mucoviscidosis" EXACT [DOID:1485, OMIM:219700, Orphanet:586]
synonym: "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis" EXACT [OMIM:219700, OMIM:genemap2]
xref: DOID:1485 {source="MONDO:equivalentTo"}
xref: GARD:6233 {source="MONDO:GARD"}
xref: ICD10CM:E84 {source="DOID:1485", source="MONDO:equivalentTo"}
xref: ICD10CM:E84.0 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"}
xref: ICD10CM:E84.1 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"}
xref: ICD10CM:E84.8 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"}
xref: ICD10CM:E84.9 {source="Orphanet:586/specific", source="DOID:1485", source="Orphanet:586/btnt", source="Orphanet:586"}
xref: icd11.foundation:514403112 {source="MONDO:equivalentTo", source="Orphanet:586"}
xref: ICD9:277.0 {source="DOID:1485"}
xref: MedDRA:10011762 {source="Orphanet:586/e", source="Orphanet:586"}
xref: MEDGEN:41393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003550 {source="DOID:1485", source="Orphanet:586/e", source="MONDO:equivalentTo", source="Orphanet:586"}
xref: NANDO:1200922 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1201021 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100035 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200205 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2975 {source="DOID:1485", source="MONDO:equivalentTo"}
xref: NORD:1026 {source="MONDO:NORD"}
xref: OMIM:219700 {source="DOID:1485", source="Orphanet:586/e", source="MONDO:equivalentTo", source="Orphanet:586"}
xref: Orphanet:586 {source="OMIM:219700", source="MONDO:equivalentTo"}
xref: SCTID:154767009 {source="DOID:1485"}
xref: SCTID:190905008 {source="DOID:1485", source="MONDO:equivalentTo"}
xref: SCTID:190911006 {source="DOID:1485"}
xref: SCTID:85809002 {source="DOID:1485"}
xref: UMLS:C0010674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41393"}
is_a: MONDO:0003847 {source="DOID:1485/inferred", source="MESH:D003550", source="MONDO:Redundant", source="NCIT:C2975", source="Orphanet:586/inferred"} ! hereditary disease
is_a: MONDO:0005087 {source="Orphanet:586"} ! respiratory system disorder
is_a: MONDO:0006025 {source="DOID:1485", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: excluded_subClassOf MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:586", source="https://orcid.org/0000-0001-5208-3432"} ! pancreas disorder
relationship: excluded_subClassOf MONDO:0015509 {source="Orphanet:586", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary biliary tract disease
relationship: excluded_subClassOf MONDO:0018396 {source="Orphanet:586", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare male fertility disorder with obstructive azoospermia
relationship: excluded_subClassOf MONDO:0018409 {source="Orphanet:586", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic disorder with obstructive azoospermia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:219700", source="Orphanet:586"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015510", source="MONDO:0015618"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis" xsd:anyURI {source="GARD:0006233"}

[Term]
id: MONDO:0009062
name: cystic fibrosis-gastritis-megaloblastic anemia syndrome
def: "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." [Orphanet:2575]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:3303", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2575"}
subset: orphanet_rare {source="Orphanet:2575"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cystic fibrosis gastritis megaloblastic anaemia" RELATED OMO:0003005 []
synonym: "cystic fibrosis gastritis megaloblastic anemia" RELATED [GARD:0003303]
synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability" RELATED [OMIM:219721]
synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" RELATED DEPRECATED [OMIM:219721]
synonym: "cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies" RELATED [GARD:0003303]
synonym: "Lubani Al Saleh Teebi syndrome" RELATED [GARD:0003303]
synonym: "Lubani-Al Saleh-Teebi syndrome" EXACT [Orphanet:2575]
xref: GARD:3303 {source="MONDO:GARD"}
xref: MEDGEN:812585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537039 {source="MONDO:equivalentTo"}
xref: OMIM:219721 {source="Orphanet:2575", source="MONDO:equivalentTo", source="Orphanet:2575/e"}
xref: Orphanet:2575 {source="OMIM:219721", source="MONDO:equivalentTo"}
xref: SCTID:720401009 {source="MONDO:equivalentTo"}
xref: UMLS:C3806255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:812585"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0015111 {source="Orphanet:2575", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete gastroesophageal disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0009063
name: ventriculomegaly-cystic kidney disease
subset: gard_rare {source="GARD:17757", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443988"}
subset: orphanet_rare {source="Orphanet:443988"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [Orphanet:443988]
synonym: "ventriculomegaly with cystic kidney disease" RELATED [MONDO:Lexical, OMIM:219730]
synonym: "VMCKD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:219730, Orphanet:443988]
xref: DOID:0111625 {source="MONDO:equivalentTo"}
xref: GARD:17757 {source="MONDO:GARD"}
xref: MEDGEN:346584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:219730 {source="MONDO:equivalentTo", source="Orphanet:443988", source="Orphanet:443988/e"}
xref: Orphanet:443988 {source="MONDO:equivalentTo"}
xref: UMLS:C1857423 {source="MEDGEN:346584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:443988", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18688 {source="MONDO:mim2gene_medgen"} ! CRB2

[Term]
id: MONDO:0009064
name: ocular cystinosis
def: "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." [Orphanet:411641]
subset: gard_rare {source="GARD:9756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:411641"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset cystinosis" EXACT [Orphanet:411641]
synonym: "cystinosis, ADULT NONNEPHROPATHIC" RELATED [OMIM:219750]
synonym: "cystinosis, benign Nonnephropathic" RELATED [OMIM:219750]
synonym: "cystinosis, ocular Nonnephropathic" RELATED [OMIM:219750]
synonym: "non-nephropathic cystinosis" EXACT [Orphanet:411641]
synonym: "ocular cystinosis" EXACT CLINGEN_LABEL []
xref: GARD:9756 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:411641", source="Orphanet:411641/attributed", source="Orphanet:411641/ntbt"}
xref: MEDGEN:419313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535765 {source="MONDO:equivalentTo"}
xref: NANDO:1200164 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201236 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:219750 {source="Orphanet:411641", source="MONDO:equivalentTo", source="Orphanet:411641/e"}
xref: Orphanet:213 {source="OMIM:219750"}
xref: Orphanet:411641 {source="MONDO:equivalentTo", source="OMIM:219750"}
xref: UMLS:C2931013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419313"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0016239 {source="MESH:C535765", source="Orphanet:411641"} ! cystinosis
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="MONDO:mim2gene_medgen"} ! CTNS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009065
name: obsolete cystinosis, nephropathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/960" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100151

[Term]
id: MONDO:0009066
name: juvenile nephropathic cystinosis
def: "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." [Orphanet:411634]
subset: gard_rare {source="GARD:17685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:411634"}
subset: rare
synonym: "cystinosis, intermediate" RELATED [OMIM:219900]
synonym: "cystinosis, late-onset juvenile or adolescent nephropathic" EXACT [OMIM:219900, OMIM:genemap2]
synonym: "cystinosis, late-onset juvenile or adolescent nephropathic type" RELATED [OMIM:219900]
synonym: "intermediate cystinosis" EXACT [Orphanet:411634]
synonym: "juvenile cystinosis" EXACT [Orphanet:411634]
synonym: "juvenile nephropathic cystinosis" EXACT CLINGEN_LABEL []
xref: GARD:17685 {source="MONDO:GARD"}
xref: ICD10EXP:E72.0+ {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"}
xref: ICD10EXP:N16.3* {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"}
xref: MEDGEN:75701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562683 {source="MONDO:equivalentTo"}
xref: NANDO:1200163 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201235 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:219900 {source="Orphanet:411634", source="MONDO:equivalentTo", source="Orphanet:411634/e"}
xref: Orphanet:213 {source="OMIM:219900"}
xref: Orphanet:411634 {source="MONDO:equivalentTo", source="OMIM:219900"}
xref: SCTID:22830006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268626 {source="MEDGEN:75701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
is_a: MONDO:0100151 {source="EFO:0009049", source="MESH:C562683", source="Orphanet:411634"} ! nephropathic cystinosis
intersection_of: MONDO:0100151 ! nephropathic cystinosis
intersection_of: has_characteristic HP:0003621 ! Juvenile onset
relationship: excluded_subClassOf MONDO:0019743 {source="EFO:0009049/inferred", source="Orphanet:411634", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="MONDO:mim2gene_medgen"} ! CTNS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009067
name: cystinuria
def: "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." [Orphanet:214]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:214"}
subset: orphanet_rare {source="Orphanet:214"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CSNU" RELATED ABBREVIATION [GARD:0006237, OMIM:220100]
synonym: "cystinuria" EXACT CLINGEN_LABEL [MONDO:ambiguous, OMIM:220100]
synonym: "cystinuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cystinuria, type a" RELATED [OMIM:220100]
synonym: "cystinuria, type A/B" RELATED [OMIM:220100]
synonym: "cystinuria, type B" RELATED [OMIM:220100]
synonym: "cystinuria, type I" RELATED [OMIM:220100]
synonym: "cystinuria, type I, formerly" RELATED [OMIM:220100]
synonym: "cystinuria, type II" RELATED [OMIM:220100]
synonym: "cystinuria, type II, formerly" RELATED [OMIM:220100]
synonym: "cystinuria, type III" RELATED [OMIM:220100]
synonym: "cystinuria, type III, formerly" RELATED [OMIM:220100]
synonym: "cystinuria, type non-I" RELATED [OMIM:220100]
synonym: "cystinuria, type non-I, formerly" RELATED [OMIM:220100]
synonym: "cystinuria-lysinuria" RELATED [GARD:0006237]
synonym: "cystinuria-lysinuria syndrome" EXACT [Orphanet:214]
xref: DOID:9266 {source="MONDO:equivalentTo"}
xref: GARD:6237 {source="MONDO:GARD"}
xref: HP:0003131 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E72.0 {source="Orphanet:214", source="Orphanet:214/ntbt", source="Orphanet:214/inclusion"}
xref: ICD10CM:E72.01 {source="DOID:9266"}
xref: icd11.foundation:1237620397 {source="Orphanet:214", source="MONDO:equivalentTo"}
xref: MedDRA:10011778 {source="Orphanet:214", source="Orphanet:214/e"}
xref: MEDGEN:8226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003555 {source="Orphanet:214", source="MONDO:equivalentTo", source="Orphanet:214/e", source="DOID:9266"}
xref: NANDO:2200489 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84664 {source="MONDO:equivalentTo", source="DOID:9266"}
xref: OMIM:220100 {source="GARD:0006237", source="Orphanet:214", source="MONDO:equivalentTo", source="Orphanet:214/e", source="DOID:9266"}
xref: Orphanet:214 {source="GARD:0006237", source="MONDO:equivalentTo", source="OMIM:220100"}
xref: Orphanet:93612 {source="OMIM:220100"}
xref: Orphanet:93613 {source="OMIM:220100"}
xref: SCTID:154738008 {source="DOID:9266"}
xref: SCTID:267498002 {source="DOID:9266"}
xref: SCTID:85020001 {source="MONDO:equivalentTo", source="DOID:9266"}
xref: UMLS:C0010691 {source="MEDGEN:8226", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0004736 {source="DOID:9266"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:214"} ! inherited renal tubular disease
is_a: MONDO:0019216 {source="Orphanet:214", source="PMID:33340416"} ! inborn disorder of amino acid transport
property_value: IAO:0000589 "cystinuria (disease)" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6237/cystinuria" xsd:anyURI {source="GARD:0006237"}

[Term]
id: MONDO:0009068
name: cytochrome-c oxidase deficiency disease
def: "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." [NCIT:P378]
comment: Reason: duplicate. This will be merged with MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type
subset: gard_rare {source="GARD:48", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1030", source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:254905"}
subset: orphanet_rare {source="Orphanet:254905"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Complex 4 mitochondrial respiratory chain deficiency" RELATED [GARD:0000048]
synonym: "Complex IV deficiency" RELATED [GARD:0000048]
synonym: "COX deficiency" RELATED [GARD:0000048]
synonym: "Cox deficiency" RELATED [OMIM:220110]
synonym: "Cytochrome C Oxidase Deficiency" EXACT [NORD:1030]
synonym: "cytochrome C oxidase deficiency" RELATED [OMIM:220110]
synonym: "cytochrome-C oxidase deficiency" EXACT [NCIT:C98910]
synonym: "cytochrome-c oxidase deficiency disease" EXACT CLINGEN_LABEL []
synonym: "deficiency of mitochondrial respiratory chain complex4" RELATED [GARD:0000048]
synonym: "isolated COX deficiency" EXACT [Orphanet:254905]
synonym: "isolated cytochrome C oxidase deficiency" RELATED [Orphanet:254905]
synonym: "isolated mitochondrial respiratory chain complex IV deficiency" EXACT [Orphanet:254905]
synonym: "mitochondrial Complex 4 deficiency" RELATED [OMIM:220110]
synonym: "mitochondrial complex IV deficiency" EXACT [DOID:3762, GARD:0000048, OMIM:220110]
xref: DOID:3762 {source="MONDO:equivalentTo"}
xref: GARD:48 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:254905/attributed", source="Orphanet:254905/ntbt", source="Orphanet:254905"}
xref: MEDGEN:75662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D030401 {source="DOID:3762", source="MONDO:equivalentTo"}
xref: NCIT:C98910 {source="DOID:3762", source="MONDO:equivalentTo"}
xref: NORD:1030 {source="MONDO:NORD"}
xref: Orphanet:254905 {source="MONDO:equivalentTo", source="OMIM:220110"}
xref: SCTID:124199009 {source="DOID:3762"}
xref: SCTID:237991006 {source="DOID:3762"}
xref: SCTID:67434000 {source="DOID:3762", source="MONDO:equivalentTo"}
xref: UMLS:C0268237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75662"}
is_a: MONDO:0000066 {source="DC-OMIM:220110"} ! mitochondrial complex deficiency
is_a: MONDO:0019052 {source="DOID:3762/inferred", source="MESH:D030401", source="MONDO:Redundant", source="NCIT:C98910", source="Orphanet:254905/inferred"} ! inborn errors of metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7438" xsd:anyURI
property_value: IAO:0006012 "2024-06-01" xsd:string

[Term]
id: MONDO:0009069
name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
def: "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." [Orphanet:70472]
subset: gard_rare {source="GARD:8370", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70472"}
subset: orphanet_rare {source="Orphanet:70472"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" EXACT CLINGEN_LABEL []
synonym: "Cox deficiency, French Canadian type" RELATED [OMIM:220111]
synonym: "COX deficiency, French-Canadian type" EXACT [Orphanet:70472]
synonym: "Cox deficiency, Saguenay Lac saint Jean type" RELATED [GARD:0008370]
synonym: "Cox deficiency, Saguenay-Lac-Saint-Jean type" RELATED [OMIM:220111]
synonym: "cytochrome C oxidase deficiency, French Canadian type" RELATED [OMIM:220111]
synonym: "cytochrome C oxidase deficiency, French-Canadian type" EXACT [Orphanet:70472]
synonym: "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type" EXACT [Orphanet:70472]
synonym: "Leigh syndrome, French Canadian type" RELATED [MONDO:Lexical, OMIM:220111]
synonym: "Leigh syndrome, French-Canadian type" EXACT [Orphanet:70472]
synonym: "Leigh syndrome, Saguenay Lac saint Jean type" RELATED [GARD:0008370]
synonym: "Leigh syndrome, Saguenay-Lac-Saint-Jean type" EXACT [OMIM:220111, Orphanet:70472]
synonym: "LSFC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220111]
synonym: "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" EXACT [OMIM:220111, OMIM:genemap2]
synonym: "SLSJ-COX deficiency" EXACT [Orphanet:70472]
xref: DOID:0111180 {source="MONDO:equivalentTo"}
xref: GARD:8370 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:70472/attributed", source="Orphanet:70472/ntbt", source="Orphanet:70472"}
xref: MEDGEN:387801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537004 {source="MONDO:equivalentTo"}
xref: OMIM:220111 {source="Orphanet:70472", source="MONDO:equivalentTo", source="Orphanet:70472/e"}
xref: Orphanet:506 {source="OMIM:220111"}
xref: Orphanet:70472 {source="MONDO:equivalentTo", source="OMIM:220111"}
xref: SCTID:718219002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387801"}
is_a: MONDO:0009723 {source="DC-OMIM:220111", source="MESH:C537004", source="Orphanet:70472"} ! Leigh syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15714 {source="MONDO:mim2gene_medgen"} ! LRPPRC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009070
name: D-glyceric aciduria
def: "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21." [Orphanet:941]
subset: gard_rare {source="GARD:234", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:941"}
subset: orphanet_rare {source="Orphanet:941"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "D-glycerate kinase deficiency" EXACT [Orphanet:941]
synonym: "D-glyceric acidemia" EXACT [OMIM:220120, Orphanet:941]
synonym: "d-glyceric aciduria" EXACT [OMIM:220120]
synonym: "D-glycericacidemia" RELATED [GARD:0000234]
synonym: "glycerate kinase deficiency" RELATED [OMIM:220120]
synonym: "non ketotic hyperglycinemia syndrome" RELATED [GARD:0000234]
xref: DOID:0111626 {source="MONDO:equivalentTo"}
xref: GARD:234 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:941/attributed", source="Orphanet:941/ntbt", source="Orphanet:941"}
xref: MEDGEN:452447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535767 {source="Orphanet:941", source="MONDO:equivalentTo", source="Orphanet:941/e"}
xref: NCIT:C128804 {source="MONDO:equivalentTo"}
xref: OMIM:220120 {source="Orphanet:941", source="MONDO:equivalentTo", source="Orphanet:941/e"}
xref: Orphanet:941 {source="MONDO:equivalentTo", source="OMIM:220120"}
xref: SCTID:237980004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452447"}
is_a: MONDO:0005066 {source="DOID:0111626", source="GARD:0000234", source="https://www.clinicalgenome.org/affiliation/40049/"} ! metabolic disease
is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism
relationship: excluded_subClassOf MONDO:0017703 {source="Orphanet:941", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glyoxylate metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24247 {source="MONDO:mim2gene_medgen"} ! GLYCTK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009071
name: hereditary renal hypouricemia
def: "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." [Orphanet:94088]
subset: gard_rare {source="GARD:9496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94088"}
subset: ordo_malformation_syndrome {source="Orphanet:94088"}
subset: orphanet_rare {source="Orphanet:94088"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150]
synonym: "hypouricemia, renal" RELATED [GARD:0009496]
synonym: "renal hypouricemia" RELATED [OMIM:220150]
xref: GARD:9496 {source="MONDO:GARD"}
xref: ICD9:790.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1643078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537757 {source="MONDO:equivalentTo"}
xref: Orphanet:94088 {source="OMIM:220150", source="MONDO:equivalentTo"}
xref: SCTID:236478009 {source="MONDO:equivalentTo"}
xref: UMLS:C4551590 {source="MONDO:equivalentTo", source="MEDGEN:1643078", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:94088"} ! inherited renal tubular disease

[Term]
id: MONDO:0009072
name: Dandy-Walker syndrome
def: "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." [Orphanet:217]
subset: gard_rare {source="GARD:6242", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1032"}
subset: ordo_disorder {source="Orphanet:217"}
subset: ordo_morphological_anomaly {source="Orphanet:217"}
subset: orphanet_rare {source="Orphanet:217"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atresia of foramina of Magendie and Luschka" EXACT [DOID:2785]
synonym: "Dandy Walker Malformation" EXACT [NORD:1032]
synonym: "Dandy-Walker complex" RELATED [GARD:0006242]
synonym: "Dandy-Walker malformation" RELATED [OMIM:220200]
synonym: "Dandy-Walker syndrome" EXACT [MONDO:Lexical, OMIM:220200]
synonym: "Dandy-Walker syndrome or malformation (type of DW complex)" RELATED [GARD:0006242]
synonym: "Dandy-Walker syndrome, Isolated cases" EXACT [OMIM:220200, OMIM:genemap2]
synonym: "Dandy-Walker variant (type of DW complex)" RELATED [GARD:0006242]
synonym: "DW complex" RELATED [GARD:0006242]
synonym: "DWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220200]
synonym: "isolated Dandy-Walker malformation" RELATED [Orphanet:217]
synonym: "mega cisterna magna (type of DW complex)" RELATED [GARD:0006242]
xref: DOID:2785 {source="EFO:1000890", source="MONDO:equivalentTo"}
xref: EFO:1000890 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6242 {source="MONDO:GARD"}
xref: ICD10CM:Q03.1 {source="Orphanet:217/inclusion", source="Orphanet:217/ntbt", source="DOID:2785", source="Orphanet:217"}
xref: icd11.foundation:993088960 {source="Orphanet:217", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10048411 {source="EFO:1000890"}
xref: MEDGEN:4150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003616 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo"}
xref: NANDO:2200821 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75012 {source="DOID:2785", source="MONDO:equivalentTo"}
xref: NORD:1032 {source="MONDO:NORD"}
xref: OMIM:220200 {source="DOID:2785", source="Orphanet:217", source="MONDO:equivalentTo", source="Orphanet:217/e"}
xref: Orphanet:217 {source="MONDO:equivalentTo", source="OMIM:220200"}
xref: SCTID:14447001 {source="EFO:1000890", source="DOID:2785", source="MONDO:equivalentTo"}
xref: SCTID:204063009 {source="DOID:2785"}
xref: UMLS:C0010964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4150"}
is_a: MONDO:0002427 {source="DOID:2785", source="MESH:D003616"} ! cerebellar disorder
is_a: MONDO:0020134 {source="Orphanet:217"} ! cystic malformation of the posterior fossa
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:217", source="Orphanet:217/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009073
name: Ritscher-Schinzel syndrome 1
def: "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "3C syndrome" RELATED [OMIM:220210]
synonym: "Craniocerebellocardiac dysplasia" RELATED [OMIM:220210]
synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [OMIM:220210]
synonym: "Ritscher-Schinzel syndrome" RELATED [MONDO:Lexical, OMIM:220210]
synonym: "Ritscher-Schinzel syndrome 1" EXACT [OMIM:220210]
synonym: "Ritscher-Schinzel syndrome caused by mutation in WASHC5" EXACT [MONDO:design_pattern]
synonym: "Ritscher-Schinzel syndrome type 1" EXACT [DOID:0060571, MONDORULE:1]
synonym: "RTSC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220210]
synonym: "RTSC1" RELATED ABBREVIATION [OMIM:220210]
synonym: "WASHC5 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060571 {source="MONDO:equivalentTo"}
xref: GARD:15160 {source="MONDO:GARD"}
xref: MEDGEN:1634646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:220210 {source="DOID:0060571", source="MONDO:equivalentTo"}
xref: Orphanet:7 {source="DOID:0060571", source="OMIM:220210"}
xref: UMLS:C4551776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634646"}
is_a: MONDO:0019078 {source="DC-OMIM:220210", source="DOID:0060571", source="MONDO:Redundant", source="OMIM:220210"} ! Ritscher-Schinzel syndrome
intersection_of: MONDO:0019078 ! Ritscher-Schinzel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28984 ! WASHC5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28984 {source="MONDO:mim2gene_medgen"} ! WASHC5

[Term]
id: MONDO:0009074
name: facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
def: "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive." [Orphanet:1970]
subset: gard_rare {source="GARD:2222", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1970"}
subset: ordo_malformation_syndrome {source="Orphanet:1970"}
subset: orphanet_rare {source="Orphanet:1970"}
subset: rare
synonym: "Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED [OMIM:220219]
synonym: "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED DEPRECATED [OMIM:220219]
xref: GARD:2222 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1970", source="Orphanet:1970/attributed", source="Orphanet:1970/ntbt"}
xref: MEDGEN:341752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535985 {source="MONDO:equivalentTo"}
xref: OMIM:220219 {source="Orphanet:1970", source="MONDO:equivalentTo", source="Orphanet:1970/e"}
xref: Orphanet:1970 {source="OMIM:220219", source="MONDO:equivalentTo"}
xref: UMLS:C1857352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341752"}
is_a: MONDO:0015159 {source="Orphanet:1970"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1970", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009075
name: Dandy-Walker malformation-postaxial polydactyly syndrome
def: "Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." [Orphanet:1566]
subset: gard_rare {source="GARD:1669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1566"}
subset: ordo_malformation_syndrome {source="Orphanet:1566"}
subset: orphanet_rare {source="Orphanet:1566"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dandy-Walker malformation with postaxial polydactyly" RELATED [OMIM:220220]
synonym: "DWM with postaxial polydactyly" EXACT [OMIM:220220, Orphanet:1566]
synonym: "Pierquin syndrome" EXACT [OMIM:220220, Orphanet:1566]
xref: GARD:1669 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1566", source="Orphanet:1566/attributed", source="Orphanet:1566/ntbt"}
xref: MEDGEN:341751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535771 {source="MONDO:equivalentTo", source="Orphanet:1566", source="Orphanet:1566/e"}
xref: OMIM:220220 {source="MONDO:equivalentTo", source="Orphanet:1566", source="Orphanet:1566/e"}
xref: Orphanet:1566 {source="MONDO:equivalentTo", source="OMIM:220220"}
xref: SCTID:733094005 {source="MONDO:equivalentTo"}
xref: UMLS:C1857351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341751"}
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation

[Term]
id: MONDO:0009076
name: autosomal recessive nonsyndromic hearing loss 1A
def: "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." [NCIT:C129022]
subset: gard_rare {source="GARD:1697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 1A" NARROW [DOID:0110475]
synonym: "autosomal recessive nonsyndromic deafness 1A" NARROW [OMIM:220290]
synonym: "autosomal recessive nonsyndromic deafness type 1A" NARROW [DOID:0110475, MONDORULE:4]
synonym: "autosomal recessive nonsyndromic hearing loss 1A" EXACT CLINGEN_LABEL []
synonym: "connexin 26 deafness" NARROW [GARD:0001697]
synonym: "deafness nonsyndromic, connexin 26 linked" NARROW [GARD:0001697]
synonym: "deafness, autosomal recessive 1A" NARROW [MONDO:Lexical, OMIM:220290]
synonym: "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant" NARROW [OMIM:220290, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 1A" NARROW [MONDORULE:4, OMIM:220290]
synonym: "deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant" EXACT [OMIM:220290, OMIM:genemap2]
synonym: "deafness, digenic, GJB2/GJB3" NARROW [OMIM:220290]
synonym: "deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant" EXACT [OMIM:220290, OMIM:genemap2]
synonym: "deafness, digenic, GJB2/GJB6" NARROW [OMIM:220290]
synonym: "DFNB1" NARROW ABBREVIATION [GARD:0001697]
synonym: "DFNB1A" NARROW ABBREVIATION [DOID:0110475, MONDO:Lexical, OMIM:220290]
synonym: "GJB2-related deafness" NARROW [GARD:0001697]
xref: DOID:0110475 {source="MONDO:equivalentTo"}
xref: GARD:1697 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110475"}
xref: MEDGEN:388720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567134 {source="MONDO:equivalentTo"}
xref: NCIT:C129022 {source="MONDO:equivalentTo"}
xref: OMIM:220290 {source="GARD:0001697", source="MONDO:equivalentTo", source="DOID:0110475"}
xref: UMLS:C2673759 {source="MEDGEN:388720", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:220290", source="DOID:0110475", source="OMIM:220290"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1697/dfnb1" xsd:anyURI {source="GARD:0001697"}

[Term]
id: MONDO:0009077
name: deafness, congenital, and familial myoclonic epilepsy
synonym: "deafness, congenital, and familial myoclonic epilepsy" EXACT [OMIM:220300]
xref: MEDGEN:346569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565649 {source="MONDO:equivalentTo"}
xref: OMIM:220300 {source="MONDO:equivalentTo"}
xref: UMLS:C1857348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346569"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009078
name: obsolete Jervell and Lange-Nielsen syndrome
synonym: "obsolete Jervell and Lange-Nielsen syndrome" EXACT CLINGEN_LABEL []
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3073" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002441

[Term]
id: MONDO:0009079
name: DOORS syndrome
def: "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." [Orphanet:79500, PMID:24291220, PMID:24729539, PMID:24729547, PMID:25557349, PMID:25769375, PMID:26371875]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1058"}
subset: ordo_disorder {source="Orphanet:79500"}
subset: ordo_malformation_syndrome {source="Orphanet:79500"}
subset: orphanet_rare {source="Orphanet:79500"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [Orphanet:79500]
synonym: "brachydactyly due to absence of distal phalanges" RELATED [OMIM:220500]
synonym: "deafness onychodystrophy osteodystrophy and intellectual disability syndrome" RELATED [GARD:0001685]
synonym: "deafness onychodystrophy osteodystrophy and mental retardation syndrome" RELATED DEPRECATED [GARD:0001685]
synonym: "deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome" RELATED [MONDO:Lexical, OMIM:220500]
synonym: "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:220500]
synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT [Orphanet:79500]
synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT [Orphanet:79500]
synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT [GARD:0001685, Orphanet:79500]
synonym: "Digitorenocerebral syndrome" RELATED [GARD:0001685, OMIM:220500]
synonym: "door syndrome" EXACT [GARD:0001685, OMIM:220500, Orphanet:79500]
synonym: "DOORS" RELATED DEPRECATED [MONDO:Lexical, OMIM:220500]
synonym: "DOORS syndrome" EXACT CLINGEN_LABEL [GARD:0001685]
synonym: "drc syndrome" RELATED [OMIM:220500]
synonym: "Eronen syndrome" RELATED [OMIM:220500]
xref: DOID:0111627 {source="MONDO:equivalentTo"}
xref: GARD:1685 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:79500/attributed", source="Orphanet:79500/ntbt", source="Orphanet:79500"}
xref: MEDGEN:208648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563052 {source="MONDO:equivalentTo"}
xref: NORD:1058 {source="MONDO:NORD"}
xref: OMIM:220500 {source="GARD:0001685", source="Orphanet:79500/e", source="MONDO:equivalentTo", source="Orphanet:79500"}
xref: Orphanet:3231 {source="OMIM:220500"}
xref: Orphanet:79500 {source="GARD:0001685", source="MONDO:equivalentTo", source="OMIM:220500"}
xref: SCTID:719800009 {source="MONDO:equivalentTo"}
xref: UMLS:C0795934 {source="MEDGEN:208648", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1685/deafness-onychodystrophy-osteodystrophy-and-mental-retardation-syndrome" xsd:anyURI {source="GARD:0001685"}

[Term]
id: MONDO:0009080
name: split hand-foot malformation 1 with sensorineural hearing loss
def: "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." [Orphanet:71271]
comment: DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features
subset: gard_rare {source="GARD:16686", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71271"}
subset: ordo_malformation_syndrome {source="Orphanet:71271"}
subset: orphanet_rare {source="Orphanet:71271"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital deafness with split hands and feet" EXACT [DOID:0090024]
synonym: "deafness, congenital, with split hands and feet" RELATED [OMIM:220600]
synonym: "SHFM1D" EXACT ABBREVIATION [DOID:0090024, MONDO:Lexical, OMIM:220600]
synonym: "split hand-foot malformation 1 with sensorineural hearing loss" EXACT CLINGEN_LABEL []
synonym: "split hand-split foot-deafness syndrome" RELATED [Orphanet:71271]
synonym: "split-hand/foot malformation 1 with sensorineural hearing loss" EXACT [OMIM:220600, OMIM:genemap2]
synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" RELATED [MONDO:Lexical, OMIM:220600]
xref: DOID:0090024 {source="MONDO:equivalentTo"}
xref: GARD:16686 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:71271/attributed", source="Orphanet:71271/ntbt", source="DOID:0090024", source="Orphanet:71271"}
xref: MEDGEN:347431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565647 {source="MONDO:equivalentTo"}
xref: OMIM:220600 {source="Orphanet:71271/e", source="MONDO:equivalentTo", source="DOID:0090024", source="Orphanet:71271"}
xref: Orphanet:71271 {source="MONDO:equivalentTo", source="DOID:0090024", source="OMIM:220600"}
xref: SCTID:723611008 {source="MONDO:equivalentTo"}
xref: UMLS:C1857344 {source="MEDGEN:347431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:71271"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: disease_has_major_feature HP:0100257 ! Ectrodactyly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2918 {source="MONDO:mim2gene_medgen"} ! DLX5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009081
name: deafness, congenital, with total albinism
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "deafness, congenital, with total albinism" EXACT [OMIM:220900]
xref: MEDGEN:387799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565646 {source="MONDO:equivalentTo"}
xref: OMIM:220900 {source="MONDO:equivalentTo"}
xref: UMLS:C1857343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387799"}
is_a: MONDO:0003847 {source="MESH:C565646/inferred"} ! hereditary disease
relationship: disease_has_major_feature HP:0000365 ! Hearing impairment
relationship: disease_has_major_feature HP:0001022 ! Albinism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009082
name: high myopia-sensorineural deafness syndrome
def: "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." [Orphanet:363396]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363396"}
subset: orphanet_rare {source="Orphanet:363396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness and myopia" RELATED [MONDO:Lexical, OMIM:221200]
synonym: "deafness and myopia syndrome" RELATED [GARD:0012844]
synonym: "DFNMYP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221200]
synonym: "high myopia-sensorineural deafness syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0111628 {source="MONDO:equivalentTo"}
xref: GARD:12844 {source="MONDO:GARD"}
xref: ICD10CM:H90.5 {source="Orphanet:363396/attributed", source="Orphanet:363396/ntbt", source="Orphanet:363396"}
xref: MEDGEN:812605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:221200 {source="Orphanet:363396", source="MONDO:equivalentTo", source="Orphanet:363396/e"}
xref: Orphanet:363396 {source="MONDO:equivalentTo", source="OMIM:221200"}
xref: SCTID:720506002 {source="MONDO:equivalentTo"}
xref: UMLS:C3806275 {source="MEDGEN:812605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23503 {source="MONDO:mim2gene_medgen"} ! SLITRK6

[Term]
id: MONDO:0009083
name: conductive deafness-malformed external ear syndrome
subset: gard_rare {source="GARD:1460", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3216"}
subset: ordo_malformation_syndrome {source="Orphanet:3216"}
subset: orphanet_rare {source="Orphanet:3216"}
subset: rare
synonym: "conductive deafness - malformed external ear" RELATED [GARD:0001460]
synonym: "conductive deafness with malformed external ear" RELATED [GARD:0001460]
synonym: "conductive hearing loss and malformed low-set ears" RELATED [GARD:0001460]
synonym: "conductive hearing loss-malformed external ear syndrome" EXACT [Orphanet:3216]
synonym: "deafness, conductive, with malformed external EAR" RELATED [OMIM:221300]
synonym: "Ear deformity and conductive hearing loss" RELATED [GARD:0001460]
synonym: "familial congenital moderate neural hearing loss" RELATED [GARD:0001460]
synonym: "Mengel-Konigsmark syndrome" EXACT [Orphanet:3216]
xref: GARD:1460 {source="MONDO:GARD"}
xref: MEDGEN:347429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565644 {source="MONDO:equivalentTo"}
xref: OMIM:221300 {source="MONDO:equivalentTo", source="Orphanet:3216", source="Orphanet:3216/e"}
xref: Orphanet:3216 {source="MONDO:equivalentTo", source="OMIM:221300"}
xref: UMLS:C1857341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347429"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease

[Term]
id: MONDO:0009084
name: conductive deafness-ptosis-skeletal anomalies syndrome
def: "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978." [Orphanet:3236]
subset: gard_rare {source="GARD:305", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3236"}
subset: ordo_malformation_syndrome {source="Orphanet:3236"}
subset: orphanet_rare {source="Orphanet:3236"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness conductive ptosis skeletal anomalies" RELATED [GARD:0000305]
synonym: "deafness, conductive, with ptosis and skeletal anomalies" RELATED [OMIM:221320]
synonym: "Jackson Barr syndrome" RELATED [GARD:0000305]
synonym: "Jackson-Barr syndrome" EXACT [Orphanet:3236]
xref: GARD:305 {source="MONDO:GARD"}
xref: MEDGEN:347428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535993 {source="Orphanet:3236", source="MONDO:equivalentTo", source="Orphanet:3236/e"}
xref: OMIM:221320 {source="Orphanet:3236", source="MONDO:equivalentTo", source="Orphanet:3236/e"}
xref: Orphanet:3236 {source="MONDO:equivalentTo", source="OMIM:221320"}
xref: SCTID:763213001 {source="MONDO:equivalentTo"}
xref: UMLS:C1857340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347428"}
is_a: MONDO:0019287 {source="Orphanet:3236"} ! ectodermal dysplasia syndrome
relationship: disease_has_major_feature HP:0000405 ! Conductive hearing impairment

[Term]
id: MONDO:0009085
name: deafness-vitiligo-achalasia syndrome
def: "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia." [Orphanet:3239]
subset: gard_rare {source="GARD:1705", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3239"}
subset: ordo_malformation_syndrome {source="Orphanet:3239"}
subset: orphanet_rare {source="Orphanet:3239"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital deafness with vitiligo and achalasia" RELATED [GARD:0001705]
synonym: "deafness vitiligo achalasia" RELATED [GARD:0001705]
synonym: "deafness, congenital, with vitiligo and achalasia" RELATED [OMIM:221350]
xref: GARD:1705 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3239", source="Orphanet:3239/attributed", source="Orphanet:3239/ntbt"}
xref: MEDGEN:347427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565642 {source="MONDO:equivalentTo"}
xref: OMIM:221350 {source="MONDO:equivalentTo", source="Orphanet:3239", source="Orphanet:3239/e", source="GARD:0001705"}
xref: Orphanet:3239 {source="OMIM:221350", source="MONDO:equivalentTo", source="GARD:0001705"}
xref: UMLS:C1857339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347427"}
is_a: MONDO:0003847 {source="Orphanet:3239/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia" xsd:anyURI {source="GARD:0001705"}

[Term]
id: MONDO:0009086
name: deafness-small bowel diverticulosis-neuropathy syndrome
def: "Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)." [Orphanet:3217]
subset: gard_rare {source="GARD:2568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3217"}
subset: orphanet_rare {source="Orphanet:3217"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [OMIM:221400]
synonym: "Groll Hirschowitz syndrome" RELATED [GARD:0002568]
synonym: "Groll-Hirschowitz syndrome" EXACT [OMIM:221400, Orphanet:3217]
synonym: "nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [GARD:0002568]
xref: GARD:2568 {source="MONDO:GARD"}
xref: MEDGEN:347426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537305 {source="MONDO:equivalentTo"}
xref: OMIM:221400 {source="MONDO:equivalentTo", source="Orphanet:3217", source="Orphanet:3217/e"}
xref: Orphanet:3217 {source="MONDO:equivalentTo", source="OMIM:221400"}
xref: SCTID:733071009 {source="MONDO:equivalentTo"}
xref: UMLS:C1857338 {source="MEDGEN:347426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:3217/inferred"} ! hereditary disease

[Term]
id: MONDO:0009087
name: deafness, neural, congenital moderate
synonym: "deafness, neural, congenital moderate" EXACT [OMIM:221500]
xref: MEDGEN:347425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565640 {source="MONDO:equivalentTo"}
xref: OMIM:221500 {source="MONDO:equivalentTo"}
xref: UMLS:C1857337 {source="MONDO:equivalentTo", source="MEDGEN:347425", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_major_feature HP:0000365 ! Hearing impairment

[Term]
id: MONDO:0009088
name: deafness, neural, with atypical atopic dermatitis
synonym: "deafness, neural, with atypical atopic dermatitis" EXACT [OMIM:221700]
xref: MEDGEN:346567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565639 {source="MONDO:equivalentTo"}
xref: OMIM:221700 {source="MONDO:equivalentTo"}
xref: UMLS:C1857334 {source="MONDO:equivalentTo", source="MEDGEN:346567", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565639/inferred"} ! hereditary disease
relationship: disease_has_major_feature HP:0000365 ! Hearing impairment

[Term]
id: MONDO:0009089
name: deafness-oligodontia syndrome
def: "Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive." [Orphanet:3230]
subset: gard_rare {source="GARD:1698", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3230"}
subset: ordo_malformation_syndrome {source="Orphanet:3230"}
subset: orphanet_rare {source="Orphanet:3230"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia" RELATED [GARD:0001698]
synonym: "congenital profound sensorineural deafness and oligodontia" RELATED [GARD:0001698]
synonym: "deafness oligodontia syndrome" RELATED [GARD:0001698]
synonym: "deafness-oligodontia syndrome" EXACT [OMIM:221740]
xref: GARD:1698 {source="MONDO:GARD"}
xref: MEDGEN:387798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538049 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"}
xref: OMIM:221740 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"}
xref: Orphanet:3230 {source="MONDO:equivalentTo", source="OMIM:221740"}
xref: UMLS:C1857333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387798"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3230", source="Orphanet:3230/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome" xsd:anyURI {source="GARD:0001698"}

[Term]
id: MONDO:0009090
name: hearing loss, sensorineural, autosomal-mitochondrial type
subset: gard_rare {source="GARD:18159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, sensorineural, autosomal-mitochondrial type" NARROW [OMIM:221745]
xref: DOID:0111752 {source="MONDO:equivalentTo"}
xref: GARD:18159 {source="MONDO:GARD"}
xref: MEDGEN:346566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565637 {source="MONDO:equivalentTo"}
xref: OMIM:221745 {source="MONDO:equivalentTo"}
xref: Orphanet:90641 {source="OMIM:221745"}
xref: UMLS:C1857332 {source="MEDGEN:346566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010779 {source="Orphanet:90641/btnt"} ! mitochondrial non-syndromic sensorineural hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0009091
name: non-acquired combined pituitary hormone deficiency with spine abnormalities
def: "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." [Orphanet:231720]
subset: gard_rare {source="GARD:10603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231720"}
subset: ordo_malformation_syndrome {source="Orphanet:231720"}
subset: orphanet_rare {source="Orphanet:231720"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CPHD3" RELATED ABBREVIATION [GARD:0010603, MONDO:Lexical, OMIM:221750]
synonym: "Deafness, sensorineural with pituitary dwarfism" RELATED [GARD:0010603]
synonym: "deafness, sensorineural, with pituitary dwarfism" RELATED [OMIM:221750]
synonym: "non-acquired combined pituitary hormone deficiency with spine abnormalities" EXACT CLINGEN_LABEL []
synonym: "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome" EXACT [Orphanet:231720]
synonym: "non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome" RELATED [Orphanet:231720]
synonym: "Pituitary hormone deficiency, combined with rigid cervical spine" RELATED [GARD:0010603]
synonym: "pituitary hormone deficiency, combined, 3" RELATED [MONDO:Lexical, OMIM:221750]
synonym: "pituitary hormone deficiency, combined, type 3" EXACT [MONDORULE:1, OMIM:221750]
synonym: "pituitary hormone deficiency, combined, with rigid cervical spine" RELATED [OMIM:221750]
synonym: "Winkelmann-Bethge-Pfeiffer syndrome" RELATED [GARD:0010603]
xref: GARD:10603 {source="MONDO:GARD"}
xref: MEDGEN:483740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536710 {source="MONDO:equivalentTo"}
xref: OMIM:221750 {source="MONDO:equivalentTo", source="Orphanet:231720", source="GARD:0010603", source="Orphanet:231720/e"}
xref: Orphanet:231720 {source="MONDO:equivalentTo", source="OMIM:221750"}
xref: Orphanet:3228 {source="GARD:0010603"}
xref: UMLS:C3489787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483740"}
is_a: MONDO:0005152 {source="MESH:C536710/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! hypopituitarism
is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:221750"} ! combined pituitary hormone deficiencies, genetic form
is_a: MONDO:0018762 {source="https://orcid.org/0000-0001-5208-3432"} ! non-acquired combined pituitary hormone deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6595 {source="MONDO:mim2gene_medgen"} ! LHX3

[Term]
id: MONDO:0009092
name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
def: "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." [Orphanet:2770]
subset: gard_rare {source="GARD:9921", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2770"}
subset: ordo_malformation_syndrome {source="Orphanet:2770"}
subset: orphanet_rare {source="Orphanet:2770"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain-bone-fat disease" RELATED [OMIM:221770]
synonym: "dementia, prefrontal, with bone cysts" RELATED [OMIM:221770]
synonym: "dementia, progressive, with lipomembranous polycystic osteodysplasia" RELATED [OMIM:221770]
synonym: "Nasu-Hakola disease" EXACT [OMIM:221770]
synonym: "NHD" EXACT ABBREVIATION [DOID:0090112, Orphanet:2770]
synonym: "PLO-SL" EXACT [DOID:0090112, Orphanet:2770]
synonym: "PLOSL" EXACT ABBREVIATION [DOID:0090112, MONDO:Lexical, OMIM:221770, Orphanet:2770]
synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT [DOID:0090112, MONDO:Lexical, OMIM:221770, Orphanet:2770]
synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" EXACT [OMIMPS:221770]
synonym: "presenile dementia with bone cysts" EXACT [DOID:0090112, OMIM:221770]
synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT [DOID:0090112]
xref: DOID:0090112 {source="MONDO:equivalentTo"}
xref: GARD:9921 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:2770", source="Orphanet:2770/attributed", source="Orphanet:2770/ntbt", source="DOID:0090112"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:387795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536329 {source="Orphanet:2770", source="DOID:0090112", source="Orphanet:2770/e"}
xref: NANDO:1200658 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:221770 {source="MONDO:equivalentTo"}
xref: Orphanet:2770 {source="MONDO:equivalentTo", source="DOID:0090112", source="OMIM:221770"}
xref: SCTID:702347001 {source="MONDO:equivalentTo"}
xref: UMLS:C1857316 {source="MONDO:equivalentTo", source="MEDGEN:387795", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:0090112", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019046 {source="Orphanet:2770"} ! leukodystrophy
is_a: MONDO:0019707 {source="Orphanet:2770"} ! primary osteolysis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:221770", source="Orphanet:2770"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:221770"} ! inherited

[Term]
id: MONDO:0009093
name: dermatoleukodystrophy
def: "Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." [Orphanet:1659]
subset: gard_rare {source="GARD:1813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1659"}
subset: orphanet_rare {source="Orphanet:1659"}
subset: rare
synonym: "Dermatoleukodystrophy" EXACT [OMIM:221790]
xref: GARD:1813 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:1659", source="Orphanet:1659/attributed", source="Orphanet:1659/ntbt"}
xref: MEDGEN:387794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538220 {source="Orphanet:1659/e", source="MONDO:equivalentTo", source="Orphanet:1659"}
xref: OMIM:221790 {source="Orphanet:1659/e", source="MONDO:equivalentTo", source="Orphanet:1659"}
xref: Orphanet:1659 {source="OMIM:221790", source="MONDO:equivalentTo"}
xref: SCTID:733044009 {source="MONDO:equivalentTo"}
xref: UMLS:C1857314 {source="MEDGEN:387794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="Orphanet:1659"} ! leukodystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy" xsd:anyURI {source="GARD:0001813"}

[Term]
id: MONDO:0009094
name: dermochondrocorneal dystrophy
def: "Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." [Orphanet:79149]
subset: gard_rare {source="GARD:1815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79149"}
subset: orphanet_rare {source="Orphanet:79149"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DCCD" RELATED ABBREVIATION [GARD:0001815]
synonym: "dermochondrocorneal dystrophy" EXACT [OMIM:221800]
synonym: "Dermochondrocorneal dystrophy of François" RELATED [GARD:0001815]
synonym: "FranC'ois syndrome" EXACT [Orphanet:79149]
synonym: "Francois syndrome" RELATED [OMIM:221800]
synonym: "François syndrome" EXACT [Orphanet:79149]
xref: GARD:1815 {source="MONDO:GARD"}
xref: ICD9:379.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535375 {source="MONDO:equivalentTo"}
xref: OMIM:221800 {source="Orphanet:79149", source="MONDO:equivalentTo", source="Orphanet:79149/e"}
xref: Orphanet:79149 {source="MONDO:equivalentTo", source="OMIM:221800"}
xref: SCTID:254150007 {source="MONDO:equivalentTo"}
xref: UMLS:C0432288 {source="MEDGEN:98151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0021154 {source="Orphanet:79149"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009095
name: dermatoosteolysis, Kirghizian type
def: "Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." [Orphanet:1657]
subset: gard_rare {source="GARD:1814", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1657"}
subset: ordo_malformation_syndrome {source="Orphanet:1657"}
subset: orphanet_rare {source="Orphanet:1657"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia" RELATED [GARD:0001814]
synonym: "Dermatoosteolysis Kirghizian type" RELATED [GARD:0001814]
synonym: "dermatoosteolysis, Kirghizian type" EXACT [OMIM:221810]
synonym: "Kirghizian Dermatoosteolysis" RELATED [OMIM:221810]
xref: GARD:1814 {source="MONDO:GARD"}
xref: MEDGEN:341742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535373 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"}
xref: OMIM:221810 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"}
xref: Orphanet:1657 {source="MONDO:equivalentTo", source="OMIM:221810"}
xref: SCTID:721090002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341742"}
is_a: MONDO:0019287 {source="MESH:C535373", source="Orphanet:1657"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type" xsd:anyURI {source="GARD:0001814"}

[Term]
id: MONDO:0009096
name: obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
xref: NANDO:1200546 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4502" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800027

[Term]
id: MONDO:0009097
name: persistent hyperplastic primary vitreous, autosomal recessive
def: "Autosomal recessive form of persistent hyperplastic primary vitreous." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:18167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive persistent hyperplastic primary vitreous" EXACT [MONDO:design_pattern]
synonym: "persistent fetal vasculature" RELATED [OMIM:221900]
synonym: "persistent foetal vasculature" RELATED OMO:0003005 []
synonym: "persistent hyperplastic primary vitreous, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:221900]
synonym: "PHPVAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221900]
synonym: "retinal nonattachment and falciform detachment" RELATED [OMIM:221900]
synonym: "retinal nonattachment, nonsyndromic congenital" RELATED [OMIM:221900]
xref: GARD:18167 {source="MONDO:GARD"}
xref: MEDGEN:370100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:221900 {source="MONDO:equivalentTo"}
xref: Orphanet:300337 {source="MONDO:equivalentObsolete", source="OMIM:221900"}
xref: Orphanet:91495 {source="OMIM:221900"}
xref: UMLS:C1969783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370100"}
is_a: MONDO:0019631 {source="DC-OMIM:221900", source="MONDO:Redundant", source="OMIM:221900"} ! persistent hyperplastic primary vitreous
intersection_of: MONDO:0019631 ! persistent hyperplastic primary vitreous
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0009098
name: dextrocardia with unusual facies and microphthalmia
synonym: "Aughton syndrome" RELATED [GARD:0000136]
synonym: "dextrocardia with unusual facies and microphthalmia" EXACT [OMIM:221950]
synonym: "dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability" RELATED [GARD:0000136]
synonym: "dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation" RELATED DEPRECATED [GARD:0000136]
xref: MEDGEN:346559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538269 {source="MONDO:equivalentTo"}
xref: OMIM:221950 {source="MONDO:equivalentTo"}
xref: UMLS:C1857298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346559"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/136/dextrocardia-with-unusual-facies-and-microphthalmia" xsd:anyURI {source="GARD:0000136"}

[Term]
id: MONDO:0009099
name: nephrogenic diabetes insipidus-intracranial calcification syndrome
def: "This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." [Orphanet:3145]
subset: gard_rare {source="GARD:259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3145"}
subset: orphanet_rare {source="Orphanet:3145"}
subset: rare
synonym: "diabetes insipidus nephrogenic intellectual disability and intracerebral calcification" RELATED [GARD:0000259]
synonym: "diabetes insipidus nephrogenic mental retardation and intracerebral calcification" RELATED DEPRECATED [GARD:0000259]
synonym: "diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification" RELATED [OMIM:221995]
synonym: "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" RELATED DEPRECATED [OMIM:221995]
synonym: "Schofer Beetz Bohl syndrome" RELATED [GARD:0000259]
synonym: "Schofer-Beetz-Bohl syndrome" EXACT [Orphanet:3145]
xref: GARD:259 {source="MONDO:GARD"}
xref: MEDGEN:387791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:221995 {source="Orphanet:3145", source="GARD:0000259", source="MONDO:equivalentTo", source="Orphanet:3145/e"}
xref: Orphanet:3145 {source="GARD:0000259", source="MONDO:equivalentTo", source="OMIM:221995"}
xref: SCTID:716200002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857297 {source="MEDGEN:387791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:3145"} ! inherited renal tubular disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification" xsd:anyURI {source="GARD:0000259"}

[Term]
id: MONDO:0009100
name: type 1 diabetes mellitus 1
def: "An inherited susceptibility or predisposition to developing 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3." [MONDO:patterns/inherited_susceptibility, PMID:12140742]
synonym: "diabetes mellitus, insulin-dependent" BROAD [MONDO:Lexical, OMIM:222100]
synonym: "diabetes mellitus, insulin-dependent, 1" EXACT [OMIM:222100]
synonym: "diabetes mellitus, insulin-dependent-1" EXACT [OMIM:222100, OMIM:genemap2]
synonym: "diabetes mellitus, type 1" BROAD [OMIM:222100]
synonym: "diabetes, type 1, susceptibility to" RELATED [OMIM:222100, OMIM:genemap2]
synonym: "IDDM" BROAD ABBREVIATION [MONDO:Lexical, OMIM:222100]
synonym: "IDDM1" EXACT ABBREVIATION []
synonym: "insulin-dependent diabetes mellitus 1" EXACT [OMIM:222100]
synonym: "juvenile-onset diabetes" BROAD [OMIM:222100]
synonym: "type 1 diabetes mellitus" BROAD [OMIM:222100, OMIM:genemap2]
xref: MEDGEN:1734436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5435660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1734436"}
is_a: MONDO:0020573 {source="OMIM:222100"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:222100"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0009101
name: Wolfram syndrome 1
def: "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diabetes insipidus and mellitus with optic atrophy and deafness" RELATED [OMIM:222300]
synonym: "Wfs" RELATED [OMIM:222300]
synonym: "WFS1" EXACT ABBREVIATION [DOID:0110629, MONDO:Lexical, OMIM:222300]
synonym: "WFS1 Wolfram syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WOLFRAM syndrome 1" RELATED [OMIM:222300]
synonym: "Wolfram syndrome 1" EXACT [MONDO:Lexical, OMIM:222300]
synonym: "Wolfram syndrome caused by mutation in WFS1" EXACT [MONDO:design_pattern]
synonym: "Wolfram syndrome type 1" EXACT [DOID:0110629, MONDORULE:1, OMIM:222300]
xref: DOID:0110629 {source="MONDO:equivalentTo"}
xref: ICD10CM:E13.8 {source="DOID:0110629"}
xref: MEDGEN:1641635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:222300 {source="MONDO:equivalentTo", source="DOID:0110629"}
xref: Orphanet:3463 {source="OMIM:222300"}
xref: UMLS:C4551693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641635"}
is_a: MONDO:0018105 {source="DC-OMIM:222300", source="DOID:0110629", source="MONDO:Entailed", source="MONDO:Redundant"} ! Wolfram syndrome
intersection_of: MONDO:0018105 ! Wolfram syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 ! WFS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 {source="MONDO:mim2gene_medgen"} ! WFS1

[Term]
id: MONDO:0009102
name: diaminopentanuria
synonym: "cystine-lysinuria" RELATED [OMIM:222350]
synonym: "Diaminopentanuria" EXACT [OMIM:222350]
xref: MEDGEN:347412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565630 {source="MONDO:equivalentTo"}
xref: OMIM:222350 {source="MONDO:equivalentTo"}
xref: UMLS:C1857285 {source="MEDGEN:347412", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565630/inferred"} ! hereditary disease

[Term]
id: MONDO:0009103
name: diaphragmatic hernia 2
subset: gard_rare {source="GARD:15161", source="MONDO:GARD"}
subset: rare
synonym: "diaphragmatic hernia 2" EXACT [MONDO:Lexical, OMIM:222400]
synonym: "DIH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222400]
synonym: "hernia, congenital diaphragmatic 2" EXACT [OMIM:222400, OMIM:genemap2]
xref: GARD:15161 {source="MONDO:GARD"}
xref: MEDGEN:347411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565629 {source="MONDO:equivalentTo"}
xref: OMIM:222400 {source="MONDO:equivalentTo"}
xref: Orphanet:2140 {source="OMIM:222400"}
xref: UMLS:C1857284 {source="MEDGEN:347411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005711 {source="DC-OMIM:222400", source="OMIM:222400"} ! congenital diaphragmatic hernia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009104
name: Donnai-Barrow syndrome
def: "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." [Orphanet:2143]
subset: gard_rare {source="GARD:1899", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2143"}
subset: ordo_malformation_syndrome {source="Orphanet:2143"}
subset: orphanet_rare {source="Orphanet:2143"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DBS/FOAR syndrome" EXACT [DOID:0090144, OMIM:222448, Orphanet:2143]
synonym: "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria" RELATED [GARD:0001899]
synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria" RELATED [OMIM:222448]
synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT [DOID:0090144]
synonym: "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "Donnai-Barrow syndrome" EXACT CLINGEN_LABEL [OMIM:222448]
synonym: "facio-oculo-acoustico-renal syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "faciooculoacousticorenal syndrome" EXACT [DOID:0090144]
synonym: "FOAR syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "Holmes-Schepens syndrome" EXACT [DOID:0090144, Orphanet:2143]
synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT [DOID:0090144, Orphanet:2143]
xref: DOID:0090144 {source="MONDO:equivalentTo"}
xref: GARD:1899 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2143", source="DOID:0090144", source="Orphanet:2143/attributed", source="Orphanet:2143/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:347406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536390 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="Orphanet:2143/e"}
xref: OMIM:222448 {source="Orphanet:2143", source="DOID:0090144", source="MONDO:equivalentTo", source="Orphanet:2143/e"}
xref: Orphanet:2143 {source="DOID:0090144", source="MONDO:equivalentTo", source="OMIM:222448"}
xref: SCTID:702418009 {source="MONDO:equivalentTo"}
xref: UMLS:C1857277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347406"}
is_a: MONDO:0006025 {source="DOID:0090144", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015160 {source="Orphanet:2143"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2143", source="Orphanet:2143/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:222448", source="Orphanet:2143"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6694 {source="MONDO:mim2gene_medgen"} ! LRP2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome" xsd:anyURI {source="GARD:0001899"}

[Term]
id: MONDO:0009105
name: trichohepatoenteric syndrome
def: "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." [Orphanet:84064]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:5258", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84064"}
subset: orphanet_rare {source="Orphanet:84064"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "phenotypic diarrhea" EXACT [Orphanet:84064]
synonym: "phenotypic diarrhoea" EXACT OMO:0003005 []
synonym: "SD/THE" EXACT [Orphanet:84064]
synonym: "Syndromatic diarrhea" RELATED [GARD:0005258]
synonym: "Syndromatic diarrhoea" RELATED OMO:0003005 []
synonym: "syndromic diarrhea" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic diarrhea/Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064]
synonym: "syndromic diarrhoea" EXACT OMO:0003005 []
synonym: "THES1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222470]
synonym: "Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064]
synonym: "Trichohepatoenteric syndrome" EXACT [Orphanet:84064]
synonym: "Trichohepatoenteric syndrome type 1" EXACT [MONDORULE:1, OMIM:222470]
xref: DOID:0111414 {source="MONDO:equivalentTo"}
xref: GARD:5258 {source="MONDO:GARD"}
xref: icd11.foundation:1470910753 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:84064"}
xref: MEDGEN:347405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:222470 {source="MONDO:equivalentTo"}
xref: Orphanet:84064 {source="OMIM:222470", source="MONDO:equivalentTo"}
xref: SCTID:703406006 {source="MONDO:equivalentTo"}
xref: UMLS:C1857276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347405"}
is_a: MONDO:0000001 {source="Orphanet:84064"} ! disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:84064", source="Orphanet:84064/inferred"} ! intestinal disorder
is_a: MONDO:0957408 {source="Orphanet:84064", source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: has_characteristic MONDO:0021127 ! has a syndromic presentation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015616"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:222470"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0009106
name: diastematomyelia
def: "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." [NCIT:C98913]
subset: gard_rare {source="GARD:1851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1671"}
subset: ordo_morphological_anomaly {source="Orphanet:1671"}
subset: orphanet_rare {source="Orphanet:1671"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diastematomyelia" EXACT [OMIM:222500]
synonym: "Dimyelia" RELATED [GARD:0001851]
synonym: "diplomyelia" RELATED [GARD:0001851]
synonym: "Pseudodiplomyelia" RELATED [GARD:0001851]
synonym: "SCM type 1" EXACT [Orphanet:1671]
synonym: "split cord malformation" RELATED [GARD:0001851]
synonym: "split cord malformation type 1" EXACT [Orphanet:1671]
synonym: "split spinal cord malformation" RELATED [GARD:0001851]
synonym: "SSCM" RELATED ABBREVIATION [GARD:0001851]
xref: GARD:1851 {source="MONDO:GARD"}
xref: ICD10CM:Q06.2 {source="Orphanet:1671", source="MONDO:equivalentTo", source="Orphanet:1671/e", source="Orphanet:1671/specific"}
xref: ICD9:742.51 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10012750 {source="Orphanet:1671", source="Orphanet:1671/e"}
xref: MEDGEN:3801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98913 {source="MONDO:equivalentTo"}
xref: OMIM:222500 {source="Orphanet:1671", source="MONDO:equivalentTo", source="Orphanet:1671/e"}
xref: Orphanet:1671 {source="MONDO:equivalentTo", source="OMIM:222500"}
xref: SCTID:49351009 {source="MONDO:equivalentTo"}
xref: UMLS:C0011999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3801"}
is_a: MONDO:0002320 {source="NCIT:C98913"} ! congenital nervous system disorder
is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect

[Term]
id: MONDO:0009107
name: diastrophic dysplasia
def: "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." [Orphanet:628]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6275", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1051", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:628"}
subset: orphanet_rare {source="Orphanet:628"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DD" RELATED ABBREVIATION [OMIM:222600]
synonym: "diastrophic dwarfism" RELATED [Orphanet:628]
synonym: "diastrophic dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:222600, Orphanet:628]
synonym: "diastrophic dysplasia, Broad bone-Platyspondylic variant" RELATED [OMIM:222600]
synonym: "DTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222600]
xref: DOID:14687 {source="MONDO:equivalentTo"}
xref: GARD:6275 {source="MONDO:GARD"}
xref: ICD10CM:Q77.5 {source="MONDO:equivalentTo", source="Orphanet:628/specific", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"}
xref: icd11.foundation:1681550532 {source="MONDO:equivalentTo", source="Orphanet:628"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:113103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536170 {source="MONDO:equivalentTo", source="DOID:14687"}
xref: NCIT:C156311 {source="MONDO:equivalentTo"}
xref: NORD:1051 {source="MONDO:NORD"}
xref: OMIM:222600 {source="MONDO:equivalentTo", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"}
xref: Orphanet:628 {source="MONDO:equivalentTo", source="OMIM:222600"}
xref: SCTID:58561002 {source="MONDO:equivalentTo", source="DOID:14687"}
xref: UMLS:C0220726 {source="MONDO:equivalentTo", source="MEDGEN:113103", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="DOID:14687"} ! osteochondrodysplasia
relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:628", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009108
name: hyperdibasic aminoaciduria type 1
def: "Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported." [Orphanet:1032]
subset: gard_rare {source="GARD:1854", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dibasic amino aciduria 1" RELATED [OMIM:222690]
synonym: "dibasic amino aciduria I" RELATED [OMIM:222690]
synonym: "dibasic amino aciduria type 1" EXACT [MONDORULE:1, OMIM:222690]
synonym: "dibasic aminoaciduria 1" RELATED [GARD:0001854]
xref: GARD:1854 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:1032", source="Orphanet:1032/attributed", source="Orphanet:1032/ntbt"}
xref: MEDGEN:435997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567132 {source="MONDO:equivalentTo"}
xref: OMIM:222690 {source="Orphanet:1032", source="MONDO:equivalentTo", source="Orphanet:1032/e"}
xref: Orphanet:1032 {source="OMIM:222690", source="MONDO:equivalentObsolete"}
xref: UMLS:C2673736 {source="MONDO:equivalentTo", source="MEDGEN:435997", source="MONDO:MEDGEN"}
is_a: MONDO:0019216 {source="Orphanet:1032", source="PMID:33340416"} ! inborn disorder of amino acid transport
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1" xsd:anyURI {source="GARD:0001854"}

[Term]
id: MONDO:0009109
name: lysinuric protein intolerance
def: "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism." [Orphanet:470]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:470"}
subset: orphanet_rare {source="Orphanet:470"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dibasic amino aciduria 2" RELATED [OMIM:222700]
synonym: "dibasic amino aciduria II" EXACT [DOID:0060439]
synonym: "dibasic aminoaciduria 2" RELATED [GARD:0001853]
synonym: "Dibasicamino aciduria II" RELATED [GARD:0003335]
synonym: "hyperdibasic aminoaciduria" EXACT [DOID:0060439]
synonym: "hyperdibasic aminoaciduria type 2" EXACT [Orphanet:470]
synonym: "LPI" EXACT ABBREVIATION [DOID:0060439, MONDO:Lexical, OMIM:222700, Orphanet:470]
synonym: "lysinuric PROTEIN intolerance" RELATED [OMIM:222700]
synonym: "lysinuric protein intolerance" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:222700]
xref: DOID:0060439 {source="MONDO:equivalentTo"}
xref: GARD:3335 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:470", source="Orphanet:470/attributed", source="Orphanet:470/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10058300 {source="Orphanet:470", source="Orphanet:470/e"}
xref: MEDGEN:75704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562687 {source="MONDO:equivalentTo", source="DOID:0060439"}
xref: NANDO:1200809 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200488 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C121563 {source="MONDO:equivalentTo", source="DOID:0060439"}
xref: OMIM:222700 {source="MONDO:equivalentTo", source="Orphanet:470", source="DOID:0060439", source="Orphanet:470/e"}
xref: Orphanet:470 {source="MONDO:equivalentTo", source="DOID:0060439", source="OMIM:222700"}
xref: SCTID:13138006 {source="DOID:0060439"}
xref: SCTID:236476008 {source="DOID:0060439"}
xref: SCTID:237943005 {source="DOID:0060439"}
xref: SCTID:303852004 {source="MONDO:equivalentTo", source="DOID:0060439"}
xref: SCTID:367410007 {source="DOID:0060439"}
xref: UMLS:C0268647 {source="MONDO:equivalentTo", source="MEDGEN:75704", source="MONDO:MEDGEN"}
is_a: MONDO:0004736 {source="DOID:0060439", source="MESH:C562687"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019216 {source="Orphanet:470", source="PMID:33340416"} ! inborn disorder of amino acid transport
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11065 {source="MONDO:mim2gene_medgen"} ! SLC7A7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2" xsd:anyURI {source="GARD:0001853"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance" xsd:anyURI {source="GARD:0003335"}

[Term]
id: MONDO:0009110
name: dicarboxylic aminoaciduria
def: "Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit." [Orphanet:2195]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1855", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2195"}
subset: orphanet_rare {source="Orphanet:2195"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DCBXA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222730]
synonym: "dicarboxylic aminoaciduria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:222730]
synonym: "Dicarboxylicaminoaciduria" RELATED [GARD:0001855]
synonym: "glutamate-aspartate Transport defect" RELATED [OMIM:222730]
synonym: "glutamate-aspartate transport defect" EXACT [DOID:0060650, Orphanet:2195]
xref: DOID:0060650 {source="MONDO:equivalentTo"}
xref: GARD:1855 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="DOID:0060650", source="Orphanet:2195/attributed", source="Orphanet:2195/ntbt", source="Orphanet:2195"}
xref: MEDGEN:387782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536171 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"}
xref: OMIM:222730 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"}
xref: Orphanet:2195 {source="DOID:0060650", source="MONDO:equivalentTo", source="OMIM:222730"}
xref: SCTID:716747007 {source="MONDO:equivalentTo"}
xref: UMLS:C1857253 {source="MEDGEN:387782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004736 {source="DOID:0060650"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019216 {source="Orphanet:2195", source="PMID:33340416"} ! inborn disorder of amino acid transport
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria" xsd:anyURI {source="GARD:0001855"}

[Term]
id: MONDO:0009111
name: dihydropyrimidinuria
def: "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." [Orphanet:38874]
subset: gard_rare {source="GARD:12347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:38874"}
subset: orphanet_rare {source="Orphanet:38874"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dihydropyrimidinase deficiency" EXACT [MONDO:Lexical, OMIM:222748, Orphanet:38874]
synonym: "dihydropyrimidinuria" EXACT CLINGEN_LABEL [OMIM:222748]
synonym: "Dph deficiency" RELATED [OMIM:222748]
synonym: "Dpys deficiency" RELATED [OMIM:222748]
synonym: "DPYSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222748]
xref: DOID:0111629 {source="MONDO:equivalentTo"}
xref: GARD:12347 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:38874/attributed", source="Orphanet:38874/ntbt", source="Orphanet:38874"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:222748 {source="Orphanet:38874/e", source="MONDO:equivalentTo", source="Orphanet:38874"}
xref: Orphanet:38874 {source="OMIM:222748", source="MONDO:equivalentTo"}
xref: SCTID:238014002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83353"}
is_a: MONDO:0019238 {source="Orphanet:38874"} ! inborn disorder of pyrimidine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3013 {source="MONDO:mim2gene_medgen"} ! DPYS

[Term]
id: MONDO:0009112
name: rhizomelic chondrodysplasia punctata type 2
def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:309796"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate" RELATED [GARD:0009429]
synonym: "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852]
synonym: "Dhapat deficiency" EXACT [DOID:0110852]
synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852]
synonym: "Glyceronephosphate O-acyltransferase deficiency" EXACT [DOID:0110852]
synonym: "Gnpat deficiency" EXACT [DOID:0110852, OMIM:222765]
synonym: "GNPAT rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "peroxisomal dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852, OMIM:222765]
synonym: "RCDP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222765]
synonym: "Rcdp2" EXACT [DOID:0110852]
synonym: "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT" EXACT [MONDO:design_pattern]
synonym: "rhizomelic chondrodysplasia punctata type 2" EXACT CLINGEN_LABEL [OMIM:222765]
synonym: "rhizomelic chondrodysplasia punctata, type 2" EXACT [MONDO:Lexical, OMIM:222765]
synonym: "type 2 rhizomelic chondrodysplasia punctata" EXACT [GARD:0009429]
xref: DOID:0110852 {source="MONDO:equivalentTo"}
xref: GARD:9429 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="DOID:0110852", source="Orphanet:309796/attributed", source="Orphanet:309796/ntbt", source="Orphanet:309796"}
xref: MEDGEN:341734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537607 {source="MONDO:equivalentTo"}
xref: NANDO:1200771 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:222765 {source="DOID:0110852", source="Orphanet:309796/e", source="MONDO:equivalentTo", source="Orphanet:309796"}
xref: Orphanet:177 {source="OMIM:222765"}
xref: Orphanet:309796 {source="DOID:0110852", source="MONDO:equivalentTo", source="OMIM:222765"}
xref: UMLS:C1857242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341734"}
is_a: MONDO:0015776 {source="DC-OMIM:222765", source="DOID:0110852", source="MESH:C537607", source="MONDO:Redundant", source="OMIM:222765", source="Orphanet:309796"} ! rhizomelic chondrodysplasia punctata
is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata
is_a: MONDO:0100273 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! glyceronephosphate O-acyltransferase deficiency
intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4416 ! GNPAT
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4416 {source="MONDO:mim2gene_medgen"} ! GNPAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2" xsd:anyURI {source="GARD:0009429"}

[Term]
id: MONDO:0009113
name: hemolytic anemia due to diphosphoglycerate mutase deficiency
def: "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." [NCIT:C131638]
subset: gard_rare {source="GARD:1874", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:714"}
subset: orphanet_rare {source="Orphanet:714"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bisphosphoglycerate mutase deficiency" RELATED [OMIM:222800]
synonym: "bisphosphoglyceromutase deficiency" RELATED [OMIM:222800]
synonym: "BPGM deficiency" RELATED [OMIM:222800]
synonym: "diphosphoglycerate mutase deficiency of erythrocyte" RELATED [OMIM:222800]
synonym: "diphosphoglycerate phosphatase deficiency" EXACT [NCIT:C131638]
synonym: "DPGM deficiency" RELATED [OMIM:222800]
synonym: "erythrocytosis, familial, 8" EXACT [OMIM:222800, OMIM:genemap2]
xref: DOID:0111630 {source="MONDO:equivalentTo"}
xref: GARD:1874 {source="MONDO:GARD"}
xref: ICD10CM:D55.2 {source="Orphanet:714", source="Orphanet:714/attributed", source="Orphanet:714/ntbt"}
xref: MEDGEN:489898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131638 {source="MONDO:equivalentTo"}
xref: OMIM:222800 {source="MONDO:equivalentTo", source="Orphanet:714", source="Orphanet:714/e"}
xref: Orphanet:714 {source="MONDO:equivalentTo", source="OMIM:222800"}
xref: UMLS:C1291620 {source="MEDGEN:489898", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted", source="MONDO:Redundant", source="NCIT:C131638", source="OMIM:222800", source="Orphanet:714/inferred"} ! inborn errors of metabolism
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1093 {source="MONDO:mim2gene_medgen"} ! BPGM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009114
name: congenital sucrase-isomaltase deficiency
def: "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose." [https://rarediseases.info.nih.gov/diseases/7710/congenital-sucrase-isomaltase-deficiency]
subset: gard_rare {source="GARD:6183", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1056"}
subset: ordo_disorder {source="Orphanet:35122"}
subset: orphanet_rare {source="Orphanet:35122"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital sucrase-isomaltase deficiency" EXACT CLINGEN_LABEL []
synonym: "congenital sucrase-isomaltose malabsorption" EXACT [Orphanet:35122]
synonym: "congenital sucrose intolerance" EXACT [Orphanet:35122]
synonym: "congenital sucrose malabsorption" RELATED []
synonym: "congenital sucrose-isomaltase intolerance" RELATED []
synonym: "congenital sucrose-isomaltase malabsorption" RELATED [GARD:0007710]
synonym: "CSID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:222900, Orphanet:35122]
synonym: "disaccharide intolerance" EXACT [Orphanet:35122]
synonym: "disaccharide intolerance 1" RELATED [OMIM:222900]
synonym: "disaccharide intolerance i" RELATED []
synonym: "disaccharide intolerance, 1" RELATED [GARD:0007710]
synonym: "genetic sucrase-isomaltose malabsorption" EXACT [Orphanet:35122]
synonym: "intestinal sucrase-a-dextrinase deficiency" RELATED []
synonym: "invertase deficiency" RELATED []
synonym: "SI deficiency" RELATED [OMIM:222900]
synonym: "sucrase-alpha-dextrinase deficiency" RELATED []
synonym: "sucrase-isomaltase deficiency" EXACT []
synonym: "sucrase-isomaltase deficiency, congenital" RELATED [MONDO:Lexical, OMIM:222900]
synonym: "sucrose intolerance congenital" RELATED [GARD:0007710]
synonym: "sucrose intolerance, congenital" RELATED [OMIM:222900]
synonym: "sucrose isomaltose enzyme deficiency" RELATED [GARD:0006183]
synonym: "sucrose-isomaltase malabsorption, congenital" RELATED [GARD:0007710]
synonym: "sucrose-isomaltose malabsorption, congenital" RELATED [OMIM:222900]
xref: DOID:0111633 {source="MONDO:equivalentTo"}
xref: GARD:6183 {source="MONDO:GARD"}
xref: ICD10CM:E74.3 {source="Orphanet:35122/inclusion", source="Orphanet:35122", source="Orphanet:35122/ntbt"}
xref: icd11.foundation:1817406536 {source="MONDO:equivalentTo", source="Orphanet:35122"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10066387 {source="Orphanet:35122/e", source="Orphanet:35122"}
xref: MEDGEN:220924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538139 {source="Orphanet:35122/e", source="MONDO:equivalentTo", source="Orphanet:35122"}
xref: NANDO:2200908 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C128190 {source="MONDO:equivalentTo"}
xref: NORD:1056 {source="MONDO:NORD"}
xref: OMIM:222900 {source="Orphanet:35122/e", source="MONDO:equivalentTo", source="Orphanet:35122"}
xref: Orphanet:35122 {source="MONDO:equivalentTo", source="OMIM:222900"}
xref: SCTID:78373000 {source="MONDO:equivalentTo"}
xref: UMLS:C1283620 {source="MEDGEN:220924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004905 ! intestinal disaccharidase deficiency
is_a: MONDO:0017706 {source="Orphanet:35122", source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0019052 {source="MESH:C538139/inferred", source="MONDO:Redundant", source="NCIT:C128190", source="Orphanet:35122/inferred"} ! inborn errors of metabolism
intersection_of: MONDO:0017706 ! disorder of carbohydrate transmembrane transport and absorption
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10856 ! SI
relationship: disease_has_basis_in_disruption_of GO:0005984 ! disaccharide metabolic process
relationship: disease_has_location UBERON:0000160 ! intestine
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10856 {source="MONDO:mim2gene_medgen"} ! SI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency" xsd:anyURI {source="https://github.com/monarch-initiative/mondo/issues/886"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption" xsd:anyURI {source="GARD:0006183"}

[Term]
id: MONDO:0009115
name: congenital lactase deficiency
def: "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." [Orphanet:53690]
subset: gard_rare {source="GARD:12311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53690"}
subset: orphanet_rare {source="Orphanet:53690"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alactasia, congenital" RELATED [OMIM:223000]
synonym: "congenital lactase deficiency" EXACT CLINGEN_LABEL []
synonym: "disaccharide intolerance 2" RELATED [OMIM:223000]
synonym: "lactase deficiency, congenital" RELATED [OMIM:223000]
xref: DOID:0111646 {source="MONDO:equivalentTo"}
xref: GARD:12311 {source="MONDO:GARD"}
xref: ICD10CM:E73.0 {source="Orphanet:53690/e", source="Orphanet:53690/specific", source="MONDO:equivalentTo", source="Orphanet:53690"}
xref: icd11.foundation:2109252471 {source="MONDO:equivalentTo", source="Orphanet:53690"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562600 {source="MONDO:equivalentTo"}
xref: OMIM:223000 {source="Orphanet:53690/e", source="MONDO:equivalentTo", source="Orphanet:53690"}
xref: Orphanet:53690 {source="OMIM:223000", source="MONDO:equivalentTo"}
xref: SCTID:5388008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268179 {source="MEDGEN:120617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017706 {source="Orphanet:53690", source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
intersection_of: MONDO:0017706 ! disorder of carbohydrate transmembrane transport and absorption
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6530 ! LCT
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6530 {source="MONDO:mim2gene_medgen"} ! LCT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency" xsd:anyURI {source="GARD:0012311"}

[Term]
id: MONDO:0009116
name: obsolete lactose intolerance
synonym: "obsolete lactose intolerance (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: NANDO:2200907 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2949" xsd:anyURI
property_value: IAO:0000589 "obsolete lactose intolerance (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0100345

[Term]
id: MONDO:0009117
name: obsolete disorganization, mouse, homolog of
synonym: "disorganization, mouse, homolog OF" RELATED [OMIM:223200]
synonym: "Ds" RELATED [OMIM:223200]
xref: OMIM:223200 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0009118
name: disseminated sclerosis with narcolepsy
synonym: "disseminated sclerosis with narcolepsy" EXACT [OMIM:223300]
xref: MEDGEN:341731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565621 {source="MONDO:equivalentTo"}
xref: OMIM:223300 {source="MONDO:equivalentTo"}
xref: Orphanet:802 {source="OMIM:223300"}
xref: UMLS:C1857229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341731"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0009119
name: diverticulosis, small-intestinal
synonym: "diverticulosis, small-intestinal" EXACT [OMIM:223320]
xref: MEDGEN:341730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565620 {source="MONDO:equivalentTo"}
xref: OMIM:223320 {source="MONDO:equivalentTo"}
xref: UMLS:C1857228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341730"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-5208-3432"} ! digestive system disorder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4946" xsd:anyURI

[Term]
id: MONDO:0009120
name: diverticulosis of bowel, hernia, and retinal detachment
def: "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." [Orphanet:2464, PMID:13880014, PMID:8976669]
comment: The disease entity is based solely on two publications from 1962 and 1996 and it is unclear if the patients described had a Mendelian disease.
subset: gard_rare {source="GARD:3401", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2464"}
subset: ordo_malformation_syndrome {source="Orphanet:2464"}
subset: orphanet_rare {source="Orphanet:2464"}
subset: rare
synonym: "diverticulosis of bowel, hernia, and retinal detachment" EXACT [OMIM:223330]
synonym: "marfanoid syndrome, De Silva type" EXACT [Orphanet:2464]
synonym: "Marphanoid syndrome type De Silva" RELATED [GARD:0003401]
xref: GARD:3401 {source="MONDO:GARD"}
xref: MEDGEN:341729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565619 {source="MONDO:equivalentTo"}
xref: OMIM:223330 {source="Orphanet:2464", source="MONDO:equivalentTo", source="Orphanet:2464/e"}
xref: Orphanet:2464 {source="OMIM:223330", source="MONDO:equivalentTo"}
xref: UMLS:C1857227 {source="MEDGEN:341729", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0004335 {source="https://orcid.org/0000-0002-4142-7153"} ! digestive system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009121
name: von Voss-Cherstvoy syndrome
def: "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." [Orphanet:3439]
subset: gard_rare {source="GARD:1894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3439"}
subset: ordo_malformation_syndrome {source="Orphanet:3439"}
subset: orphanet_rare {source="Orphanet:3439"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DK phocomelia syndrome" EXACT [OMIM:223340, Orphanet:3439]
synonym: "phocomelia thrombocytopenia encephalocele and urogenital malformations" RELATED [GARD:0001894]
synonym: "phocomelia, thrombocytopenia, encephalocele, urogenital malformations" RELATED [OMIM:223340]
synonym: "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome" EXACT [Orphanet:3439]
synonym: "Von Voss Cherstvoy syndrome" RELATED [GARD:0001894]
synonym: "von Voss-Cherstvoy syndrome" EXACT [OMIM:223340]
xref: GARD:1894 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3439", source="Orphanet:3439/attributed", source="Orphanet:3439/ntbt"}
xref: MEDGEN:341728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565618 {source="MONDO:equivalentTo"}
xref: OMIM:223340 {source="MONDO:equivalentTo", source="Orphanet:3439", source="Orphanet:3439/e"}
xref: Orphanet:3439 {source="OMIM:223340", source="MONDO:equivalentTo"}
xref: SCTID:719021005 {source="MONDO:equivalentTo"}
xref: UMLS:C1857226 {source="MEDGEN:341728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3439"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:3439", source="Orphanet:3439/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0009122
name: Dohle bodies and leukemia
synonym: "Dohle bodies and leukemia" EXACT [OMIM:223350]
xref: MEDGEN:346548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565617 {source="MONDO:equivalentTo"}
xref: OMIM:223350 {source="MONDO:equivalentTo"}
xref: UMLS:C1857225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346548"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009123
name: orthostatic hypotension 1
def: "A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis." [Orphanet:230]
subset: gard_rare {source="GARD:1903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:230"}
subset: orphanet_rare {source="Orphanet:230"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital dopamine beta-hydroxylase deficiency" EXACT [DOID:0090145]
synonym: "dopamine beta hydroxylase deficiency" RELATED [GARD:0001903]
synonym: "dopamine beta-hydroxylase deficiency" EXACT CLINGEN_LABEL []
synonym: "dopamine BETA-HYDROXYLASE deficiency, congenital" RELATED [OMIM:223360]
synonym: "noradrenaline deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230]
synonym: "norepinephrine deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230]
synonym: "orthostatic hypotension 1, due to DBH deficiency" EXACT [OMIM:223360, OMIM:genemap2]
xref: DOID:0090145 {source="MONDO:equivalentTo"}
xref: GARD:1903 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="Orphanet:230", source="Orphanet:230/attributed", source="Orphanet:230/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1648402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535600 {source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"}
xref: NANDO:2200597 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:223360 {source="Orphanet:230/e", source="MONDO:equivalentTo", source="DOID:0090145", source="Orphanet:230"}
xref: Orphanet:230 {source="OMIM:223360", source="MONDO:equivalentTo", source="DOID:0090145"}
xref: SCTID:237923004 {source="MONDO:equivalentTo"}
xref: UMLS:C4746777 {source="MONDO:equivalentTo", source="MEDGEN:1648402", source="MONDO:MEDGEN"}
is_a: MONDO:0015914 {source="Orphanet:230"} ! primary orthostatic hypotension
is_a: MONDO:0017759 {source="Orphanet:230"} ! disorder of catecholamine synthesis
is_a: MONDO:0021272 ! inherited orthostatic hypotension
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2689 {source="MONDO:mim2gene_medgen"} ! DBH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency" xsd:anyURI {source="GARD:0001903"}

[Term]
id: MONDO:0009124
name: Dubowitz syndrome
def: "A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." [Orphanet:235]
subset: gard_rare {source="GARD:6290", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1064", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:235"}
subset: ordo_malformation_syndrome {source="Orphanet:235"}
subset: orphanet_rare {source="Orphanet:235"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dubowitz syndrome" EXACT [OMIM:223370]
synonym: "Dubowitz's syndrome" EXACT [DOID:14796]
synonym: "dwarfism-eczema-peculiar facies syndrome" RELATED [GARD:0006290]
synonym: "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci" RELATED [GARD:0006290]
synonym: "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behaviour problems, eczema, and unusual and distinctive faci" RELATED OMO:0003005 []
synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci" RELATED DEPRECATED [GARD:0006290]
synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behaviour problems, eczema, and unusual and distinctive faci" RELATED OMO:0003005 []
xref: DOID:14796 {source="MONDO:equivalentTo"}
xref: GARD:6290 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:235", source="Orphanet:235/ntbt", source="Orphanet:235/inclusion", source="DOID:14796"}
xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10059589 {source="Orphanet:235", source="Orphanet:235/e", source="DOID:14796"}
xref: MEDGEN:59797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535718 {source="Orphanet:235", source="MONDO:equivalentTo", source="Orphanet:235/e", source="DOID:14796"}
xref: NCIT:C125591 {source="MONDO:equivalentTo"}
xref: NORD:1064 {source="MONDO:NORD"}
xref: OMIM:223370 {source="Orphanet:235", source="MONDO:equivalentTo", source="Orphanet:235/e", source="DOID:14796"}
xref: Orphanet:235 {source="OMIM:223370", source="MONDO:equivalentTo"}
xref: SCTID:2593002 {source="MONDO:equivalentTo", source="DOID:14796"}
xref: UMLS:C0175691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:59797"}
is_a: MONDO:0002254 {source="DOID:14796", source="MONDO:Redundant", source="NCIT:C125591", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:235"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019287 {source="Orphanet:235"} ! ectodermal dysplasia syndrome
relationship: disease_has_feature HP:0000252 ! Microcephaly
relationship: disease_has_feature HP:0000278 ! Retrognathia
relationship: disease_has_feature HP:0001510 ! Growth delay
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:235", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome" xsd:anyURI {source="GARD:0006290"}

[Term]
id: MONDO:0009125
name: obsolete dopamine beta-hydroxylase, plasma, thermolability of
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "dopamine beta-hydroxylase, plasma, thermolability of" EXACT [OMIM:223380]
xref: OMIM:223380 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0009126
name: duodenal atresia
def: "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." [Orphanet:1203]
subset: gard_rare {source="GARD:54", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1066"}
subset: ordo_disorder {source="Orphanet:1203"}
subset: ordo_morphological_anomaly {source="Orphanet:1203"}
subset: orphanet_rare {source="Orphanet:1203"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atresia of duodenum" EXACT [NCIT:C101025]
synonym: "congenital atresia of duodenum" EXACT [NCIT:C101025]
synonym: "congenital duodenal atresia" EXACT [NCIT:C101025]
synonym: "duodenal atresia" EXACT [MONDO:ambiguous, OMIM:223400]
synonym: "duodenal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Duodenal Atresia or Stenosis" EXACT [NORD:1066]
synonym: "duodenal stenosis" RELATED [GARD:0000054]
xref: DOID:0080216 {source="MONDO:equivalentTo"}
xref: GARD:54 {source="MONDO:GARD"}
xref: HP:0002247 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q41.0 {source="Orphanet:1203/inclusion", source="Orphanet:1203", source="Orphanet:1203/ntbt"}
xref: ICD9:751.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10013812 {source="Orphanet:1203", source="Orphanet:1203/e"}
xref: MEDGEN:75602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535720 {source="MONDO:equivalentTo", source="Orphanet:1203", source="Orphanet:1203/e"}
xref: NCIT:C101025 {source="MONDO:equivalentTo"}
xref: NORD:1066 {source="MONDO:NORD"}
xref: OMIM:223400 {source="GARD:0000054", source="MONDO:equivalentTo", source="Orphanet:1203", source="DOID:0080216", source="Orphanet:1203/e"}
xref: Orphanet:1203 {source="GARD:0000054", source="MONDO:equivalentTo", source="OMIM:223400"}
xref: SCTID:51118003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266174 {source="MEDGEN:75602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001045 {source="DOID:0080216", source="NCIT:C101025/inferred"} ! intestinal atresia
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "duodenal atresia (disease)" xsd:string

[Term]
id: MONDO:0009127
name: dwarfism, low-birth-weight type, with unresponsiveness to growth hormone
synonym: "dwarfism, low-birth-weight type with unresponsiveness to growth hormone" RELATED [GARD:0003293]
synonym: "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" EXACT [OMIM:223500]
xref: MEDGEN:387764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565615 {source="MONDO:equivalentTo"}
xref: OMIM:223500 {source="MONDO:equivalentTo"}
xref: UMLS:C1857197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387764"}
is_a: MONDO:0003847 {source="MESH:C565615/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3293/dwarfism-low-birth-weight-type-with-unresponsiveness-to-growth-hormone" xsd:anyURI {source="GARD:0003293"}

[Term]
id: MONDO:0009128
name: dwarfism, intellectual disability, and eye abnormality
synonym: "dwarfism, intellectual disability, and eye abnormality" EXACT [OMIM:223540]
synonym: "dwarfism, mental retardation, and eye abnormality" EXACT DEPRECATED [OMIM:223540]
synonym: "Mollica syndrome" RELATED [OMIM:223540]
xref: MEDGEN:208664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535809 {source="MONDO:equivalentTo"}
xref: OMIM:223540 {source="MONDO:equivalentTo"}
xref: Orphanet:2650 {source="MONDO:equivalentObsolete", source="OMIM:223540"}
xref: UMLS:C0796076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208664"}
is_a: MONDO:0003847 {source="MESH:C535809/inferred", source="Orphanet:2650/inferred"} ! hereditary disease

[Term]
id: MONDO:0009129
name: dwarfism, proportionate, with hip dislocation
synonym: "dwarfism, proportionate with hip dislocation" RELATED [GARD:0010606]
synonym: "dwarfism, proportionate, with hip dislocation" EXACT [OMIM:223550]
xref: MEDGEN:347392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565614 {source="MONDO:equivalentTo"}
xref: OMIM:223550 {source="MONDO:equivalentTo"}
xref: UMLS:C1857196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347392"}
is_a: MONDO:0003847 {source="MESH:C565614/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10606/dwarfism-proportionate-with-hip-dislocation" xsd:anyURI {source="GARD:0010606"}

[Term]
id: MONDO:0009130
name: Dyggve-Melchior-Clausen disease
def: "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias." [Orphanet:239]
subset: gard_rare {source="GARD:6295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1068"}
subset: ordo_disorder {source="Orphanet:239"}
subset: orphanet_rare {source="Orphanet:239"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:223800]
synonym: "DMC disease" EXACT [DOID:0111167]
synonym: "DMC syndrome" RELATED [GARD:0006295]
synonym: "Dyggve Melchior Clausen syndrome" EXACT [NORD:1068]
synonym: "Dyggve-Melchior-Clausen disease" EXACT [MONDO:Lexical, OMIM:223800]
synonym: "Dyggve-Melchior-Clausen syndrome" EXACT [NCIT:C124844]
synonym: "pseudo-Morquio disease type I" EXACT [DOID:0111167]
xref: DOID:0111167 {source="MONDO:equivalentTo"}
xref: GARD:6295 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:239/attributed", source="Orphanet:239/ntbt", source="Orphanet:239"}
xref: MEDGEN:120527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535726 {source="Orphanet:239", source="Orphanet:239/e"}
xref: NCIT:C124844 {source="MONDO:equivalentTo"}
xref: NORD:1068 {source="MONDO:NORD"}
xref: OMIM:223800 {source="Orphanet:239", source="MONDO:equivalentTo", source="Orphanet:239/e", source="DOID:0111167"}
xref: Orphanet:239 {source="MONDO:equivalentTo", source="OMIM:223800"}
xref: SCTID:82699004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265286 {source="MEDGEN:120527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C124844"} ! syndromic disease
is_a: MONDO:0016761 {source="DOID:0111167", source="Orphanet:239", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21317 {source="MONDO:mim2gene_medgen"} ! DYM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009131
name: Riley-Day syndrome
def: "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." [NCIT:C84706]
subset: gard_rare {source="GARD:7581", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1069"}
subset: ordo_disorder {source="Orphanet:1764"}
subset: orphanet_rare {source="Orphanet:1764"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dysautonomia, Familial" EXACT [NORD:1069]
synonym: "dysautonomia, familial" RELATED [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, OMIM:223900]
synonym: "familial autonomic nervous dysfunction" RELATED [DOID:11589]
synonym: "familial dysautonomia" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, Wikipedia:Familial_dysautonomia]
synonym: "hereditary sensory and autonomic neuropathy 3" EXACT [GARD:0007581]
synonym: "hereditary sensory and autonomic neuropathy type 3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, Orphanet:1764]
synonym: "hereditary sensory and autonomic neuropathy type III" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, Orphanet:1764]
synonym: "hereditary sensory neuropathy type 3" EXACT [GARD:0007581]
synonym: "HSAN 3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900]
synonym: "HSAN III" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706]
synonym: "HSAN3" EXACT ABBREVIATION [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, MONDO:Lexical, OMIM:223900, Orphanet:1764]
synonym: "HSN 3" EXACT [GARD:0007581]
synonym: "neuropathy, hereditary sensory and autonomic, type 3" EXACT [OMIM:223900]
synonym: "neuropathy, hereditary sensory and autonomic, type III" EXACT [MONDO:Lexical, NCIT:C84706, OMIM:223900]
synonym: "Riley Day syndrome" EXACT [GARD:0007581]
synonym: "Riley-Day syndrome" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900, Orphanet:1764]
xref: DOID:11589 {source="MONDO:equivalentTo"}
xref: GARD:7581 {source="MONDO:GARD"}
xref: ICD10CM:G90.1 {source="DOID:11589", source="Orphanet:1764", source="Orphanet:1764/specific", source="Orphanet:1764/e"}
xref: icd11.foundation:831377479 {source="MONDO:equivalentTo", source="Orphanet:1764", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10039179 {source="Orphanet:1764", source="Orphanet:1764/e"}
xref: MEDGEN:41678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004402 {source="DOID:11589", source="MONDO:equivalentTo", source="Orphanet:1764", source="Orphanet:1764/e"}
xref: NCIT:C84706 {source="DOID:11589", source="MONDO:equivalentTo"}
xref: NORD:1069 {source="MONDO:NORD"}
xref: OMIM:223900 {source="DOID:11589", source="MONDO:equivalentTo", source="Orphanet:1764", source="Orphanet:1764/e"}
xref: Orphanet:1764 {source="MONDO:equivalentTo", source="OMIM:223900"}
xref: SCTID:204087006 {source="DOID:11589"}
xref: SCTID:29159009 {source="DOID:11589", source="MONDO:equivalentTo"}
xref: UMLS:C0013364 {source="MEDGEN:41678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0015914 {source="Orphanet:1764", source="https://orcid.org/0000-0001-5208-3432"} ! primary orthostatic hypotension
relationship: excluded_subClassOf MONDO:0020194 {source="Orphanet:1764", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital alacrima
relationship: excluded_subClassOf MONDO:0021154 {source="Orphanet:1764", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5959 {source="MONDO:mim2gene_medgen"} ! ELP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI

[Term]
id: MONDO:0009132
name: dysautonomia-like disorder
synonym: "dysautonomia like disorder" RELATED [GARD:0009475]
synonym: "dysautonomia-like disorder" EXACT [OMIM:224000]
xref: MEDGEN:347385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535728 {source="MONDO:equivalentTo"}
xref: OMIM:224000 {source="MONDO:equivalentTo"}
xref: UMLS:C1857153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347385"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9475/dysautonomia-like-disorder" xsd:anyURI {source="GARD:0009475"}

[Term]
id: MONDO:0009133
name: cerebellar ataxia, intellectual disability, and dysequilibrium
def: "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." [Orphanet:1766]
subset: gard_rare {source="GARD:1998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1766"}
subset: orphanet_rare {source="Orphanet:1766"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "CAMRQ" EXACT ABBREVIATION [DOID:0050997]
synonym: "CAMRQ syndrome" EXACT [Orphanet:1766]
synonym: "cerebellar ataxia, mental retardation and dysequlibrium syndrome" EXACT DEPRECATED [MONDO:0000564]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium" EXACT DEPRECATED [OMIMPS:224050]
synonym: "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome" EXACT [Orphanet:1766]
synonym: "cerebellar disorder, nonprogressive, with mental retardation" RELATED DEPRECATED [GARD:0001998]
synonym: "cerebellar hypoplasia, VLDLR associated" RELATED [GARD:0001998]
synonym: "DES" RELATED ABBREVIATION [GARD:0001998]
synonym: "dialysis dysequilibrium syndrome" EXACT [NCIT:C114781]
synonym: "dysequilibrium syndrome" EXACT [GARD:0001998]
synonym: "non-progressive cerebellar ataxia-intellectual disability syndrome" EXACT [Orphanet:1766]
synonym: "VLDLRCH" RELATED ABBREVIATION [GARD:0001998]
xref: DOID:0050997 {source="MONDO:equivalentTo"}
xref: GARD:1998 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:1766", source="Orphanet:1766/attributed", source="Orphanet:1766/ntbt"}
xref: MedDRA:10013140 {source="Orphanet:1766", source="Orphanet:1766/e"}
xref: MEDGEN:98295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535731 {source="MONDO:equivalentTo", source="Orphanet:1766", source="Orphanet:1766/e"}
xref: NCIT:C114781 {source="MONDO:equivalentTo"}
xref: OMIMPS:224050 {source="MONDO:equivalentTo"}
xref: Orphanet:1766 {source="MONDO:equivalentTo", source="OMIM:224050"}
xref: SCTID:230782004 {source="MONDO:equivalentTo"}
xref: UMLS:C0394006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98295"}
is_a: MONDO:0002254 {source="NCIT:C114781"} ! syndromic disease
is_a: MONDO:0020043 {source="Orphanet:1766"} ! autosomal recessive congenital cerebellar ataxia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:224050"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome" xsd:anyURI {source="GARD:0001998"}

[Term]
id: MONDO:0009134
name: congenital dyserythropoietic anemia type 2
def: "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." [Orphanet:98873]
subset: gard_rare {source="GARD:2001", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98873"}
subset: orphanet_rare {source="Orphanet:98873"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, congenital dyserythropoietic, type 2" RELATED [OMIM:224100]
synonym: "anemia, congenital dyserythropoietic, type II" RELATED [MONDO:Lexical, OMIM:224100]
synonym: "anemia, dyserythropoietic, congenital type 2" RELATED [GARD:0002001]
synonym: "Cda 2" RELATED [OMIM:224100]
synonym: "CDA II" EXACT [Orphanet:98873]
synonym: "CDA type 2" EXACT [Orphanet:98873]
synonym: "CDA type II" EXACT [Orphanet:98873]
synonym: "CDAN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224100]
synonym: "congenital dyserythropoietic anemia type 2" EXACT CLINGEN_LABEL [Orphanet:98873]
synonym: "dyserythropoietic Anemia, congenital, type 2" RELATED [OMIM:224100]
synonym: "dyserythropoietic anemia, congenital, type II" EXACT [OMIM:224100, OMIM:genemap2]
synonym: "dyserythropoietic Anemia, hempas type" RELATED [OMIM:224100]
synonym: "hempas anaemia" RELATED OMO:0003005 []
synonym: "hempas anemia" RELATED [GARD:0002001]
synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [Orphanet:98873]
synonym: "hereditary erythroblastic multinuclearity with Positive acidified-serum test" RELATED [OMIM:224100]
synonym: "SEC23B-CDG" EXACT [Orphanet:98873]
xref: DOID:0111401 {source="MONDO:equivalentTo"}
xref: GARD:2001 {source="MONDO:GARD"}
xref: ICD10CM:D64.4 {source="Orphanet:98873", source="Orphanet:98873/attributed", source="Orphanet:98873/ntbt"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200887 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:224100 {source="Orphanet:98873", source="MONDO:equivalentTo", source="Orphanet:98873/e"}
xref: Orphanet:98873 {source="OMIM:224100", source="MONDO:equivalentTo"}
xref: SCTID:68870007 {source="MONDO:equivalentTo"}
xref: UMLS:C1306589 {source="MEDGEN:266296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017749 {source="Orphanet:98873"} ! disorder of multiple glycosylation
is_a: MONDO:0019403 {source="DC-OMIM:224100", source="OMIM:224100", source="Orphanet:98873"} ! congenital dyserythropoietic anemia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10702 {source="MONDO:mim2gene_medgen"} ! SEC23B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009135
name: anemia, congenital dyserythropoietic, type 1a
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anemia, congenital dyserythropoietic, type 1" RELATED [OMIM:224120]
synonym: "anemia, congenital dyserythropoietic, type 1a" EXACT CLINGEN_LABEL []
synonym: "anemia, congenital dyserythropoietic, type Ia" EXACT [MONDO:Lexical, OMIM:224120]
synonym: "CDA Ia" RELATED [OMIM:224120]
synonym: "CDAN1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224120]
synonym: "dyserythropoietic Anemia, congenital, type Ia" RELATED [OMIM:224120]
xref: DOID:0111398 {source="MONDO:equivalentTo"}
xref: MEDGEN:1807106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:224120 {source="MONDO:equivalentTo"}
xref: Orphanet:98869 {source="OMIM:224120"}
xref: UMLS:C5574667 {source="MEDGEN:1807106", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019403 {source="MONDO:Redundant", source="OMIM:224120"} ! congenital dyserythropoietic anemia
is_a: MONDO:0020337 ! congenital dyserythropoietic anemia type 1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1713 {source="MONDO:mim2gene_medgen"} ! CDAN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009136
name: dyskeratosis congenita, autosomal recessive 1
def: "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14." [DOID:0070015]
subset: gard_rare {source="GARD:6300", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: prototype_pattern
subset: rare
synonym: "autosomal recessive dyskeratosis congenita" RELATED [GARD:0006300]
synonym: "autosomal recessive dyskeratosis congenita 1" RELATED [DOID:0070015]
synonym: "DKCB" RELATED ABBREVIATION [GARD:0006300]
synonym: "DKCB1" EXACT ABBREVIATION [DOID:0070015, MONDO:Lexical, OMIM:224230]
synonym: "dyskeratosis congenita autosomal recessive" RELATED [GARD:0006300]
synonym: "dyskeratosis congenita, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:224230]
synonym: "dyskeratosis congenita, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:224230]
xref: DOID:0070015 {source="MONDO:equivalentTo"}
xref: GARD:6300 {source="MONDO:GARD"}
xref: MEDGEN:341705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565611 {source="MONDO:equivalentTo"}
xref: NCIT:C176925 {source="MONDO:equivalentTo"}
xref: OMIM:224230 {source="MONDO:equivalentTo", source="DOID:0070015", source="GARD:0006300"}
xref: Orphanet:1775 {source="OMIM:224230", source="GARD:0006300"}
xref: SCTID:707272006 {source="MONDO:equivalentTo"}
xref: UMLS:C1857144 {source="MEDGEN:341705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015780 {source="DC-OMIM:224230", source="DOID:0070015", source="MESH:C565611", source="OMIM:224230"} ! dyskeratosis congenita
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive" xsd:anyURI {source="GARD:0006300"}

[Term]
id: MONDO:0009137
name: dysmyelination with jaundice
synonym: "dysmyelination with jaundice" EXACT [OMIM:224250]
xref: MEDGEN:346526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565610 {source="MONDO:equivalentTo"}
xref: OMIM:224250 {source="MONDO:equivalentTo"}
xref: UMLS:C1857143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346526"}
is_a: MONDO:0003847 {source="MESH:C565610/inferred"} ! hereditary disease

[Term]
id: MONDO:0009138
name: dysosteosclerosis
def: "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." [Orphanet:1782]
subset: gard_rare {source="GARD:2012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1782"}
subset: ordo_malformation_syndrome {source="Orphanet:1782"}
subset: orphanet_rare {source="Orphanet:1782"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysosteosclerosis" EXACT [OMIM:224300]
xref: GARD:2012 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:1782/attributed", source="Orphanet:1782/ntbt", source="Orphanet:1782"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562973 {source="MONDO:equivalentTo"}
xref: NANDO:2201365 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:224300 {source="Orphanet:1782", source="MONDO:equivalentTo", source="Orphanet:1782/e"}
xref: Orphanet:1782 {source="MONDO:equivalentTo", source="OMIM:224300"}
xref: SCTID:254123002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432262 {source="MONDO:equivalentTo", source="MEDGEN:98150", source="MONDO:MEDGEN"}
is_a: MONDO:0017198 {source="Orphanet:1782", source="PMID:31633310"} ! osteopetrosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis" xsd:anyURI {source="GARD:0002012"}

[Term]
id: MONDO:0009139
name: dyssegmental dysplasia, Rolland-Desbuquois type
subset: gard_rare {source="GARD:9810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:156731"}
subset: orphanet_rare {source="Orphanet:156731"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810]
synonym: "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400]
synonym: "Ddrd" RELATED [OMIM:224400]
synonym: "dyssegmental dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810]
synonym: "dyssegmental dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400]
synonym: "dyssegmental dysplasia Rolland-Desbuquois type" RELATED [GARD:0009810]
synonym: "dyssegmental dysplasia, Rolland-Desbuquois type" EXACT [OMIM:224400]
xref: GARD:9810 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:156731/attributed", source="Orphanet:156731/ntbt", source="Orphanet:156731"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537999 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"}
xref: OMIM:224400 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"}
xref: Orphanet:156731 {source="MONDO:equivalentTo", source="OMIM:224400"}
xref: SCTID:95243004 {source="MONDO:equivalentTo"}
xref: UMLS:C0432209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98145"}
is_a: MONDO:0016761 {source="Orphanet:156731"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type" xsd:anyURI {source="GARD:0009810"}

[Term]
id: MONDO:0009140
name: Silverman-Handmaker type dyssegmental dysplasia
def: "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities." [Orphanet:1865]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1865"}
subset: orphanet_rare {source="Orphanet:1865"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type" RELATED [GARD:0002026]
synonym: "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410]
synonym: "DDSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224410]
synonym: "dyssegmental dwarfism Silverman-Handmaker type" RELATED [GARD:0002026]
synonym: "dyssegmental dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410]
synonym: "dyssegmental dysplasia Silverman-Handmaker type" RELATED [GARD:0002026]
synonym: "dyssegmental dysplasia, Silverman-Handmaker type" RELATED [MONDO:Lexical, OMIM:224410]
xref: DOID:0090032 {source="MONDO:equivalentTo"}
xref: GARD:2026 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="DOID:0090032", source="Orphanet:1865", source="Orphanet:1865/attributed", source="Orphanet:1865/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:347372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537998 {source="MONDO:equivalentTo"}
xref: OMIM:224410 {source="DOID:0090032", source="MONDO:equivalentTo", source="Orphanet:1865", source="Orphanet:1865/e"}
xref: Orphanet:1865 {source="DOID:0090032", source="MONDO:equivalentTo", source="OMIM:224410"}
xref: SCTID:93132001 {source="MONDO:equivalentTo"}
xref: UMLS:C1857100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347372"}
is_a: MONDO:0005516 {source="DOID:0090032"} ! osteochondrodysplasia
is_a: MONDO:0016151 ! qualitative or quantitative defects of perlecan
is_a: MONDO:0016761 {source="Orphanet:1865"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5273 {source="MONDO:mim2gene_medgen"} ! HSPG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type" xsd:anyURI {source="GARD:0002026"}

[Term]
id: MONDO:0009141
name: torsion dystonia 2
def: "Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet." [Orphanet:99657]
subset: gard_rare {source="GARD:2028", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99657"}
subset: orphanet_rare {source="Orphanet:99657"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive torsion dystonia 2" EXACT [NCIT:C123415]
synonym: "dystonia 2, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:224500]
synonym: "dystonia musculorum deformans 2" RELATED [OMIM:224500]
synonym: "dystonia musculorum deformans type 2" RELATED [GARD:0002028]
synonym: "dystonic disorder caused by mutation in HPCA" EXACT [MONDO:design_pattern]
synonym: "DYT2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:224500, Orphanet:99657]
synonym: "HPCA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary dystonia, DYT2 type" RELATED [Orphanet:99657]
synonym: "torsion dystonia 2, autosomal recessive type" RELATED [GARD:0002028]
synonym: "torsion dystonia type 2" EXACT [DOID:0090038, MONDORULE:1]
xref: DOID:0090038 {source="MONDO:equivalentTo"}
xref: GARD:2028 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:99657/attributed", source="Orphanet:99657/ntbt", source="Orphanet:99657", source="DOID:0090038"}
xref: MEDGEN:346511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538006 {source="MONDO:equivalentTo"}
xref: NANDO:1200513 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123415 {source="MONDO:equivalentTo"}
xref: OMIM:224500 {source="Orphanet:99657", source="MONDO:equivalentTo", source="DOID:0090038", source="Orphanet:99657/e"}
xref: Orphanet:99657 {source="MONDO:equivalentTo", source="DOID:0090038", source="OMIM:224500"}
xref: UMLS:C1857093 {source="MEDGEN:346511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015990 {source="Orphanet:99657"} ! focal, segmental or multifocal dystonia
is_a: MONDO:0044807 {source="DOID:0090038", source="MESH:C538006/inferred", source="MONDO:Redundant", source="NCIT:C123415/inferred", source="OMIM:224500"} ! inherited dystonia
intersection_of: MONDO:0044807 ! inherited dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5144 ! HPCA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5144 {source="MONDO:mim2gene_medgen"} ! HPCA

[Term]
id: MONDO:0009142
name: dystonia with Ringbinden
synonym: "dystonia with Ringbinden" EXACT [OMIM:224550]
xref: MEDGEN:346509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565608 {source="MONDO:equivalentTo"}
xref: OMIM:224550 {source="MONDO:equivalentTo"}
xref: UMLS:C1857089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346509"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009143
name: Meier-Gorlin syndrome 1
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15162", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Ear, patella, short stature syndrome" RELATED [OMIM:224690]
synonym: "Meier-Gorlin syndrome" RELATED [OMIM:224690]
synonym: "Meier-GORLIN syndrome 1" RELATED [OMIM:224690]
synonym: "Meier-Gorlin syndrome 1" EXACT [MONDO:Lexical, OMIM:224690]
synonym: "Meier-Gorlin syndrome caused by mutation in ORC1" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 1" EXACT [MONDORULE:1, OMIM:224690]
synonym: "MGORS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224690]
synonym: "microtia, absent patellae, micrognathia syndrome" RELATED [OMIM:224690]
synonym: "ORC1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080512 {source="MONDO:equivalentTo"}
xref: GARD:15162 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1641240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:224690 {source="MONDO:equivalentTo"}
xref: Orphanet:2554 {source="OMIM:224690"}
xref: SCTID:703508009 {source="MONDO:equivalentTo"}
xref: UMLS:C4552001 {source="MEDGEN:1641240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016817 {source="DC-OMIM:224690", source="MONDO:Redundant", source="OMIM:224690"} ! Meier-Gorlin syndrome
intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8487 ! ORC1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:224690"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8487 {source="MONDO:mim2gene_medgen"} ! ORC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009144
name: Ebstein anomaly
def: "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." [Orphanet:1880]
subset: gard_rare {source="GARD:6313", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1880"}
subset: ordo_morphological_anomaly {source="Orphanet:1880"}
subset: orphanet_rare {source="Orphanet:1880"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ebstein anomaly" EXACT [OMIM:224700]
synonym: "Ebstein anomaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Ebstein anomaly of the tricuspid valve" EXACT [Orphanet:1880]
synonym: "Ebstein malformation" RELATED [Orphanet:1880]
synonym: "Ebstein's anomaly" EXACT [DOID:14289, ICD9CM:746.2]
synonym: "Ebstein's anomaly (disorder) [ambiguous]" EXACT [DOID:14289]
synonym: "Ebstein's anomaly of common atrioventricular valve" EXACT [DOID:14289]
synonym: "Ebstein's anomaly of right atrioventricular valve" EXACT [DOID:14289]
synonym: "Ebstein's anomaly of tricuspid valve" EXACT [NCIT:C84681]
synonym: "Ebstein's malformation" RELATED [GARD:0006313]
xref: DOID:14289 {source="MONDO:equivalentTo", source="EFO:0007244"}
xref: EFO:0007244 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6313 {source="MONDO:GARD"}
xref: ICD10CM:Q22.5 {source="Orphanet:1880", source="Orphanet:1880/e", source="DOID:14289", source="Orphanet:1880/specific"}
xref: icd11.foundation:307157712 {source="Orphanet:1880", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:746.2 {source="DOID:14289"}
xref: MedDRA:10014075 {source="Orphanet:1880", source="Orphanet:1880/e"}
xref: MEDGEN:4435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004437 {source="MONDO:equivalentTo", source="DOID:14289", source="EFO:0007244"}
xref: NANDO:1200711 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100080 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200260 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84681 {source="MONDO:equivalentTo", source="DOID:14289"}
xref: OMIM:224700 {source="Orphanet:1880", source="MONDO:equivalentTo", source="Orphanet:1880/e", source="DOID:14289"}
xref: Orphanet:1880 {source="MONDO:equivalentTo", source="OMIM:224700"}
xref: SCTID:1796006 {source="DOID:14289"}
xref: SCTID:204357006 {source="DOID:14289"}
xref: UMLS:C0013481 {source="MEDGEN:4435", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000471 {source="DOID:14289", source="MONDO:indirect"} ! tricuspid valve disorder
is_a: MONDO:0020289 {source="Orphanet:1880"} ! congenital tricuspid malformation
relationship: disease_has_feature HP:0010316 {source="https://github.com/monarch-initiative/mondo/issues/1175"} ! Ebstein anomaly of the tricuspid valve
relationship: excluded_subClassOf MONDO:0005561 {source="EFO:0007244", source="https://orcid.org/0000-0001-5208-3432"} ! aortic disorder
relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic cardiac malformation
property_value: IAO:0000589 "Ebstein anomaly (disease)" xsd:string

[Term]
id: MONDO:0009145
name: SchC6pf-Schulz-Passarge syndrome
def: "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." [Orphanet:50944]
subset: gard_rare {source="GARD:16649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50944"}
subset: orphanet_rare {source="Orphanet:50944"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eccrine tumors with ectodermal dysplasia" RELATED [OMIM:224750]
synonym: "eccrine tumors-ectodermal dysplasia" EXACT [Orphanet:50944]
synonym: "eccrine tumours with ectodermal dysplasia" RELATED OMO:0003005 []
synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" RELATED [OMIM:224750]
synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944]
synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944]
synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944]
synonym: "SCHOPF-Schulz-Passarge syndrome" RELATED [MONDO:Lexical, OMIM:224750]
synonym: "SChöPF-Schulz-Passarge syndrome" RELATED [Orphanet:50944]
synonym: "SSPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:224750, Orphanet:50944]
xref: DOID:0111647 {source="MONDO:equivalentTo"}
xref: GARD:16649 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:50944/attributed", source="Orphanet:50944/ntbt", source="Orphanet:50944"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:347366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565607 {source="MONDO:equivalentTo"}
xref: OMIM:224750 {source="Orphanet:50944/e", source="MONDO:equivalentTo", source="Orphanet:50944"}
xref: Orphanet:50944 {source="OMIM:224750", source="MONDO:equivalentTo"}
xref: SCTID:700062000 {source="MONDO:equivalentTo"}
xref: UMLS:C1857069 {source="MEDGEN:347366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="Orphanet:50944"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:224750", source="Orphanet:50944"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 {source="MONDO:mim2gene_medgen"} ! WNT10A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3293" xsd:anyURI

[Term]
id: MONDO:0009146
name: ectodermal dysplasia-sensorineural deafness syndrome
def: "Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive." [Orphanet:1883]
subset: gard_rare {source="GARD:9723", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1883"}
subset: ordo_malformation_syndrome {source="Orphanet:1883"}
subset: orphanet_rare {source="Orphanet:1883"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ectodermal dysplasia with hearing loss" RELATED [GARD:0009723]
synonym: "ectodermal dysplasia and neurosensory deafness" RELATED [OMIM:224800]
synonym: "ectodermal dysplasia-sensorineural hearing loss syndrome" EXACT [Orphanet:1883]
synonym: "hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers" RELATED [GARD:0009723]
synonym: "Mikaelian syndrome" RELATED [GARD:0009723, MESH:C535757]
xref: GARD:9723 {source="MONDO:GARD"}
xref: MEDGEN:346503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535757 {source="MONDO:equivalentTo"}
xref: MESH:C565606 {source="MONDO:equivalentTo"}
xref: OMIM:224800 {source="GARD:0009723", source="Orphanet:1883", source="MONDO:equivalentTo", source="Orphanet:1883/e"}
xref: Orphanet:1883 {source="MONDO:equivalentTo", source="OMIM:224800"}
xref: UMLS:C1857068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346503"}
is_a: MONDO:0019287 {source="MESH:C535757", source="MESH:C565606", source="Orphanet:1883"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss" xsd:anyURI {source="GARD:0009723"}

[Term]
id: MONDO:0009147
name: ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
subset: gard_rare {source="GARD:15163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD10B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224900]
synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [MONDO:Lexical, OMIM:224900]
synonym: "ectodermal dysplasia, anhidrotic" RELATED [OMIM:224900]
synonym: "ectodermal dysplasia, hypohidrotic" RELATED [OMIM:224900]
xref: DOID:0111665 {source="MONDO:equivalentTo"}
xref: GARD:15163 {source="MONDO:GARD"}
xref: MEDGEN:854356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:224900 {source="MONDO:equivalentTo"}
xref: Orphanet:238468 {source="OMIM:224900"}
xref: Orphanet:248 {source="OMIM:224900"}
xref: UMLS:C3887494 {source="MEDGEN:854356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016619 {source="Orphanet:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia
is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:224900"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0009148
name: Rosselli-Gulienetti syndrome
def: "A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene" [Wikipedia:Rosselli%E2%80%93Gulienetti_syndrome]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
subset: speculative
synonym: "Rosselli-Gulienetti syndrome" EXACT [OMIM:225000]
xref: MEDGEN:163221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563117 {source="MONDO:equivalentTo"}
xref: OMIM:225000 {source="MONDO:equivalentTo"}
xref: Orphanet:90339 {source="OMIM:225000", source="MONDO:equivalentObsolete", source="MONDO:obsolete"}
xref: UMLS:C0796139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163221"}
is_a: MONDO:0003847 {source="MESH:C563117/inferred", source="Orphanet:90339/inferred"} ! hereditary disease
is_a: MONDO:0007124 {source="https://orcid.org/0000-0002-6601-2165"} ! ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/432" xsd:anyURI

[Term]
id: MONDO:0009149
name: ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
def: "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." [Orphanet:1812]
subset: gard_rare {source="GARD:16578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1812"}
subset: ordo_malformation_syndrome {source="Orphanet:1812"}
subset: orphanet_rare {source="Orphanet:1812"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" RELATED [OMIM:225040]
xref: GARD:16578 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1812/attributed", source="Orphanet:1812/ntbt", source="Orphanet:1812"}
xref: MEDGEN:347363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565605 {source="MONDO:equivalentTo"}
xref: OMIM:225040 {source="Orphanet:1812/e", source="MONDO:equivalentTo", source="Orphanet:1812"}
xref: Orphanet:1812 {source="MONDO:equivalentTo", source="OMIM:225040"}
xref: UMLS:C1857053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347363"}
is_a: MONDO:0019287 {source="MESH:C565605", source="Orphanet:1812"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0009150
name: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
def: "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive." [Orphanet:1882]
subset: gard_rare {source="GARD:2049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1882"}
subset: ordo_malformation_syndrome {source="Orphanet:1882"}
subset: orphanet_rare {source="Orphanet:1882"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "another syndrome" EXACT [GARD:0002049, Orphanet:1882]
synonym: "ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049]
synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia" RELATED [OMIM:225050]
synonym: "HEDH syndrome" EXACT [GARD:0002049, OMIM:225050, Orphanet:1882]
synonym: "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia" RELATED [GARD:0002049]
synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism" RELATED [GARD:0002049]
synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049]
xref: GARD:2049 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1882", source="Orphanet:1882/attributed", source="Orphanet:1882/ntbt"}
xref: MEDGEN:384046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565604 {source="MONDO:equivalentTo"}
xref: OMIM:225050 {source="Orphanet:1882", source="GARD:0002049", source="MONDO:equivalentTo", source="Orphanet:1882/e"}
xref: Orphanet:1882 {source="GARD:0002049", source="MONDO:equivalentTo", source="OMIM:225050"}
xref: SCTID:239050000 {source="MONDO:equivalentTo"}
xref: UMLS:C1857052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384046"}
is_a: MONDO:0002254 {source="MONDO:0009150/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-5002-8648", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
is_a: MONDO:0019287 {source="MESH:C565604", source="Orphanet:1882"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia" xsd:anyURI {source="GARD:0002049"}

[Term]
id: MONDO:0009151
name: cleft lip/palate-ectodermal dysplasia syndrome
def: "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." [Orphanet:3253]
subset: disease_grouping
subset: gard_rare {source="GARD:375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3253"}
subset: ordo_malformation_syndrome {source="Orphanet:3253"}
subset: orphanet_rare {source="Orphanet:3253"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive ectodermal dysplasia" RELATED [GARD:0001045]
synonym: "Bustos Simosa pinto Cisternas syndrome" RELATED [GARD:0001045]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 7" RELATED [OMIM:225060]
synonym: "cleft lip-palate-ectodermal dysplasia syndrome" RELATED [DOID:0060773]
synonym: "cleft lip/palate-ectodermal dysplasia syndrome" EXACT [MONDO:0017911, MONDO:Lexical, OMIM:225060, Orphanet:3253]
synonym: "cleft lip/palate-syndactyly-pili torti" RELATED [GARD:0000375]
synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT [DOID:0060773, Orphanet:3253]
synonym: "CLEPD" RELATED ABBREVIATION [Orphanet:320317]
synonym: "CLPED1" RELATED ABBREVIATION [DOID:0060773, MONDO:Lexical, OMIM:225060, Orphanet:3253]
synonym: "ectodermal dysplasia margarita island type" RELATED [GARD:0001045]
synonym: "ectodermal dysplasia type 4" RELATED [GARD:0001045]
synonym: "ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly" RELATED [GARD:0000375, OMIM:225060]
synonym: "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" RELATED DEPRECATED [GARD:0000375, OMIM:225060]
synonym: "ectodermal dysplasia, margarita Island type" RELATED [OMIM:225060]
synonym: "ectodermal dysplasia, type 4" RELATED [OMIM:225060]
synonym: "ED4" RELATED ABBREVIATION [GARD:0001045]
synonym: "margarita type of ectodermal dysplasia" EXACT [DOID:0060773]
synonym: "orofacial cleft 7" RELATED [OMIM:225060]
synonym: "syndactyly-ectodermal dysplasia-cleft/lip palate" EXACT [DOID:0060773, Orphanet:3253]
synonym: "Zlotogora syndrome" RELATED [GARD:0000375]
synonym: "Zlotogora-Ogur syndrome" EXACT [OMIM:225060, Orphanet:3253]
synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [DOID:0060773, Orphanet:3253]
xref: DOID:0060773 {source="MONDO:equivalentTo"}
xref: GARD:375 {source="MONDO:GARD"}
xref: MEDGEN:444067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536726 {source="Orphanet:3253/e", source="Orphanet:3253"}
xref: NCIT:C122656 {source="MONDO:equivalentTo"}
xref: OMIM:225060 {source="GARD:0001045", source="Orphanet:3253/e", source="DOID:0060773", source="MONDO:equivalentTo", source="Orphanet:3253"}
xref: Orphanet:1991 {source="MONDO:relatedTo", source="OMIM:225060"}
xref: Orphanet:320317 {source="MONDO:equivalentObsolete"}
xref: Orphanet:3253 {source="DOID:0060773", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:225060"}
xref: SCTID:716248001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931488 {source="MEDGEN:444067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="DC-OMIM:225060", source="OMIM:225060"} ! orofacial cleft
is_a: MONDO:0006025 {source="DOID:0060773", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019287 {source="MONDO:0009151/inferred", source="MONDO:Redundant", source="NCIT:C122656", source="Orphanet:320317", source="Orphanet:3253/inferred"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225060", source="Orphanet:3253"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9706 {source="MONDO:mim2gene_medgen"} ! NECTIN1

[Term]
id: MONDO:0009152
name: ectopia lentis 2, isolated, autosomal recessive
def: "An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21." [DOID:0111149]
subset: gard_rare {source="GARD:2060", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive isolated ectopia lentis" RELATED [GARD:0002060]
synonym: "autosomal recessive isolated ectopia lentis 2" RELATED [DOID:0111149]
synonym: "ECTOL2" EXACT ABBREVIATION [DOID:0111149, MONDO:Lexical, OMIM:225100]
synonym: "ectopia lentis 2, isolated, autosomal recessive" EXACT [MONDO:Lexical, OMIM:225100]
synonym: "ectopia lentis, isolated autosomal recessive" RELATED [GARD:0002060]
synonym: "ectopia lentis, isolated, autosomal recessive" EXACT [OMIM:225100, OMIM:genemap2]
xref: DOID:0111149 {source="MONDO:equivalentTo"}
xref: GARD:2060 {source="MONDO:GARD"}
xref: MEDGEN:762100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:225100 {source="DOID:0111149", source="MONDO:equivalentTo"}
xref: Orphanet:1885 {source="OMIM:225100"}
xref: UMLS:C3541474 {source="MEDGEN:762100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015998 {source="DC-OMIM:225100", source="DOID:0111149"} ! isolated ectopia lentis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19706 {source="MONDO:mim2gene_medgen"} ! ADAMTSL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009153
name: ectopia lentis et pupillae
subset: gard_rare {source="GARD:15164", source="MONDO:GARD"}
subset: rare
synonym: "ectopia lentis et pupillae" EXACT [OMIM:225200]
synonym: "ectopia lentis with ectopia of pupil" RELATED [OMIM:225200]
xref: DOID:0111648 {source="MONDO:equivalentTo"}
xref: GARD:15164 {source="MONDO:GARD"}
xref: MEDGEN:301316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563268 {source="MONDO:equivalentTo"}
xref: OMIM:225200 {source="MONDO:equivalentTo"}
xref: Orphanet:1885 {source="OMIM:225200"}
xref: SCTID:419237004 {source="MONDO:equivalentTo"}
xref: UMLS:C1644196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:301316"}
is_a: MONDO:0015998 {source="Orphanet:1885/btnt"} ! isolated ectopia lentis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19706 {source="MONDO:mim2gene_medgen"} ! ADAMTSL4

[Term]
id: MONDO:0009154
name: hypothyroidism, congenital, nongoitrous, 5
def: "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15165", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHNG5" EXACT ABBREVIATION [DOID:0070125, MONDO:Lexical, OMIM:225250]
synonym: "congenital nongoitrous hypothyroidism 5" RELATED [DOID:0070125]
synonym: "hypothyroidism, congenital nongoitrous, 5" EXACT [OMIM:225250, OMIM:genemap2]
synonym: "hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, nongoitrous, 5" EXACT [MONDO:Lexical, OMIM:225250]
synonym: "hypothyroidism, congenital, nongoitrous, type 5" EXACT [MONDORULE:1, OMIM:225250]
synonym: "NKX2-5 hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070125 {source="MONDO:equivalentTo"}
xref: GARD:15165 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="DOID:0070125"}
xref: MEDGEN:388687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567123 {source="MONDO:equivalentTo"}
xref: OMIM:225250 {source="MONDO:equivalentTo", source="DOID:0070125"}
xref: Orphanet:90673 {source="DOID:0070125", source="MONDO:directSiblingOf"}
xref: Orphanet:95712 {source="OMIM:225250"}
xref: Orphanet:95713 {source="OMIM:225250"}
xref: Orphanet:95720 {source="OMIM:225250"}
xref: UMLS:C2673630 {source="MEDGEN:388687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000045 {source="MONDO:Redundant", source="OMIM:225250"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0018612 {source="DOID:0070125", source="MESH:C567123", source="MONDO:indirect"} ! congenital hypothyroidism
intersection_of: MONDO:0000045 ! hypothyroidism, congenital, nongoitrous
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009155
name: EEM syndrome
def: "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." [Orphanet:1897]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2078", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1897"}
subset: ordo_malformation_syndrome {source="Orphanet:1897"}
subset: orphanet_rare {source="Orphanet:1897"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy" RELATED [GARD:0002078]
synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" RELATED [MONDO:Lexical, OMIM:225280]
synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [Orphanet:1897]
synonym: "EEM syndrome" EXACT CLINGEN_LABEL [OMIM:225280]
synonym: "EEMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225280]
xref: DOID:0111649 {source="MONDO:equivalentTo"}
xref: GARD:2078 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1897", source="Orphanet:1897/attributed", source="Orphanet:1897/ntbt"}
xref: MEDGEN:341679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536190 {source="MONDO:equivalentTo"}
xref: OMIM:225280 {source="MONDO:equivalentTo", source="Orphanet:1897", source="Orphanet:1897/e"}
xref: Orphanet:1897 {source="MONDO:equivalentTo", source="OMIM:225280"}
xref: SCTID:720856002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341679"}
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019287 {source="MESH:C536190", source="Orphanet:1897"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020242 {source="Orphanet:1897"} ! hereditary macular dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1762 {source="MONDO:mim2gene_medgen"} ! CDH3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome" xsd:anyURI {source="GARD:0002078"}

[Term]
id: MONDO:0009156
name: ectrodactyly-polydactyly syndrome
def: "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." [Orphanet:1892]
subset: gard_rare {source="GARD:2068", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1892"}
subset: ordo_malformation_syndrome {source="Orphanet:1892"}
subset: orphanet_rare {source="Orphanet:1892"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectrodactyly polydactyly" EXACT [MONDO:0023052]
synonym: "ectrodactyly-polydactyly" EXACT [OMIM:225290]
xref: GARD:2068 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:1892/attributed", source="Orphanet:1892/ntbt", source="Orphanet:1892"}
xref: MEDGEN:384042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565601 {source="MONDO:equivalentTo"}
xref: OMIM:225290 {source="GARD:0002068", source="Orphanet:1892", source="MONDO:equivalentTo", source="Orphanet:1892/e"}
xref: Orphanet:1892 {source="MONDO:equivalentTo", source="OMIM:225290"}
xref: UMLS:C1857040 {source="MEDGEN:384042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019054 {source="Orphanet:1892"} ! congenital limb malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly" xsd:anyURI {source="GARD:0002068"}

[Term]
id: MONDO:0009157
name: split hand-foot malformation 6
def: "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ectrodactyly, autosomal recessive" RELATED [OMIM:225300]
synonym: "SHFM6" EXACT ABBREVIATION [DOID:0090026, MONDO:Lexical, OMIM:225300]
synonym: "split hand-foot malformation caused by mutation in WNT10B" EXACT [MONDO:design_pattern]
synonym: "split hand-foot malformation type 6" EXACT [DOID:0090026, MONDORULE:1]
synonym: "split-hand/foot malformation 6" RELATED [MONDO:Lexical, OMIM:225300]
synonym: "split-hand/foot malformation type 6" EXACT [MONDORULE:1, OMIM:225300]
synonym: "WNT10B split hand-foot malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090026 {source="MONDO:equivalentTo"}
xref: GARD:15166 {source="MONDO:GARD"}
xref: ICD10CM:Q71.6 {source="DOID:0090026"}
xref: MEDGEN:440845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567616 {source="MONDO:equivalentTo"}
xref: OMIM:225300 {source="MONDO:equivalentTo", source="DOID:0090026"}
xref: Orphanet:2440 {source="OMIM:225300", source="DOID:0090026"}
xref: UMLS:C2749665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440845"}
is_a: MONDO:0016576 {source="DOID:0090026", source="MONDO:Redundant", source="OMIM:225300"} ! split hand-foot malformation
intersection_of: MONDO:0016576 ! split hand-foot malformation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 ! WNT10B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 {source="MONDO:mim2gene_medgen"} ! WNT10B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009158
name: Ehlers-Danlos syndrome, fibronectinemic type
def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." [Orphanet:75501]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS 10" RELATED [OMIM:225310]
synonym: "EDS X" EXACT [Orphanet:75501]
synonym: "EDS10 (formerly)" RELATED [GARD:0008508]
synonym: "Ehlers-Danlos syndrome type 10" EXACT [Orphanet:75501]
synonym: "Ehlers-Danlos syndrome type 10 (formerly)" RELATED [GARD:0008508]
synonym: "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality" EXACT [Orphanet:75501]
synonym: "Ehlers-Danlos syndrome, dysfibronectinemic type" RELATED [OMIM:225310]
synonym: "Ehlers-Danlos syndrome, fibronectin-deficient" EXACT [Orphanet:75501]
synonym: "Ehlers-Danlos syndrome, type 10" RELATED [OMIM:225310]
synonym: "Ehlers-Danlos syndrome, type X (formerly)" RELATED [GARD:0008508]
synonym: "FN Abnormality" RELATED [OMIM:225310]
xref: ICD10CM:Q79.6 {source="Orphanet:75501/attributed", source="Orphanet:75501/ntbt", source="Orphanet:75501"}
xref: MEDGEN:346497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565600 {source="MONDO:equivalentTo"}
xref: OMIM:225310 {source="Orphanet:75501", source="MONDO:equivalentTo", source="Orphanet:75501/e"}
xref: Orphanet:75501 {source="MONDO:equivalentObsolete", source="OMIM:225310"}
xref: SCTID:83586000 {source="MONDO:equivalentTo"}
xref: UMLS:C1857038 {source="MEDGEN:346497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="MONDO:0017142-obsoleted"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0020066 {source="MESH:C565600", source="Orphanet:75501"} ! Ehlers-Danlos syndrome
is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder

[Term]
id: MONDO:0009159
name: Ehlers-Danlos syndrome, cardiac valvular type
def: "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." [Orphanet:230851]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:230851"}
subset: orphanet_rare {source="Orphanet:230851"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" RELATED [MESH:C536200]
synonym: "Cardiac valvular form of Ehlers-Danlos syndrome" RELATED [MESH:C536200]
synonym: "Cardiac-valvular EDS" RELATED [GARD:0012613]
synonym: "Cardiac-valvular Ehlers-Danlos syndrome" RELATED [GARD:0012613]
synonym: "cvEDS" RELATED [GARD:0012613]
synonym: "EDS, cardiac valvular type" EXACT [Orphanet:230851]
synonym: "EDSCV" RELATED ABBREVIATION [OMIM:225320]
synonym: "Ehlers-Danlos syndrome, arthrochalasis type" RELATED [MESH:C536200]
synonym: "Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form" RELATED [OMIM:225320]
synonym: "Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form" RELATED [MESH:C536200]
synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type" RELATED [OMIM:225320]
xref: DOID:0080730 {source="MONDO:equivalentTo"}
xref: GARD:12613 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:230851", source="Orphanet:230851/attributed", source="Orphanet:230851/ntbt"}
xref: MEDGEN:929458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536200 {source="MONDO:equivalentTo"}
xref: OMIM:225320 {source="MONDO:equivalentTo", source="Orphanet:230851", source="Orphanet:230851/e"}
xref: Orphanet:230851 {source="OMIM:225320", source="MONDO:equivalentTo"}
xref: SCTID:720858001 {source="MONDO:equivalentTo"}
xref: UMLS:C4303789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929458"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0020066 {source="DC-OMIM:225320", source="MESH:C536200", source="OMIM:225320", source="Orphanet:230851"} ! Ehlers-Danlos syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2198 {source="MONDO:mim2gene_medgen"} ! COL1A2

[Term]
id: MONDO:0009160
name: obsolete Ehlers-Danlos syndrome, type 6
is_obsolete: true
replaced_by: MONDO:0016002

[Term]
id: MONDO:0009161
name: Ehlers-Danlos syndrome, dermatosparaxis type
def: "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." [Orphanet:1901]
subset: gard_rare {source="GARD:2089", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1901"}
subset: orphanet_rare {source="Orphanet:1901"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dEDS" RELATED [GARD:0002089]
synonym: "dermatosparaxis" RELATED [OMIM:225410]
synonym: "dermatosparaxis EDS" RELATED [GARD:0002089]
synonym: "dermatosparaxis Ehlers-Danlos syndrome" RELATED [GARD:0002089]
synonym: "EDS 7C" RELATED [OMIM:225410]
synonym: "EDS VIIC" EXACT [Orphanet:1901]
synonym: "EDS7C" RELATED ABBREVIATION [OMIM:225410]
synonym: "EDSDERMS" RELATED ABBREVIATION [OMIM:225410]
synonym: "Ehlers-Danlos syndrome type 7C" EXACT [Orphanet:1901]
synonym: "Ehlers-Danlos syndrome type 7C (formerly)" RELATED [GARD:0002089]
synonym: "Ehlers-Danlos syndrome, dermatosparaxis type" EXACT CLINGEN_LABEL [OMIM:225410]
synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" RELATED [OMIM:225410]
xref: DOID:0080733 {source="MONDO:equivalentTo"}
xref: GARD:2089 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:1901", source="Orphanet:1901/attributed", source="Orphanet:1901/ntbt"}
xref: MEDGEN:397792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567527 {source="MONDO:equivalentTo"}
xref: NANDO:1200651 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201261 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:225410 {source="Orphanet:1901/e", source="MONDO:equivalentTo", source="Orphanet:1901"}
xref: Orphanet:1901 {source="OMIM:225410", source="MONDO:equivalentTo"}
xref: SCTID:55711009 {source="MONDO:equivalentTo"}
xref: UMLS:C2700425 {source="MEDGEN:397792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020066 {source="DC-OMIM:225410", source="MESH:C567527", source="OMIM:225410", source="Orphanet:1901"} ! Ehlers-Danlos syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/218 {source="MONDO:mim2gene_medgen"} ! ADAMTS2

[Term]
id: MONDO:0009162
name: Ellis-van Creveld syndrome
def: "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." [Orphanet:289]
subset: gard_rare {source="GARD:1301", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1083", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289"}
subset: ordo_malformation_syndrome {source="Orphanet:289"}
subset: orphanet_rare {source="Orphanet:289"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chondroectodermal dysplasia" EXACT [DOID:12714, ICD9CM:756.55, OMIM:225500, Orphanet:289]
synonym: "Ellis Van Creveld Syndrome" EXACT [NORD:1083]
synonym: "Ellis Van Creveld syndrome" EXACT [Orphanet:289]
synonym: "Ellis-VAN Creveld syndrome" EXACT [OMIM:225500]
synonym: "Ellis-van Creveld syndrome" EXACT CLINGEN_LABEL [DOID:12714, MONDO:Lexical, OMIM:225500]
synonym: "EVC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:225500]
synonym: "mesodermic dysplasia" EXACT [Orphanet:289]
synonym: "Mesoectodermal dysplasia" EXACT [OMIM:225500]
xref: DOID:12714 {source="MONDO:equivalentTo"}
xref: GARD:1301 {source="MONDO:GARD"}
xref: ICD10CM:Q77.6 {source="DOID:12714", source="Orphanet:289/ntbt", source="Orphanet:289/inclusion", source="Orphanet:289"}
xref: ICD9:756.55 {source="DOID:12714", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10008724 {source="Orphanet:289/e", source="Orphanet:289"}
xref: MEDGEN:8584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004613 {source="Orphanet:289/e", source="DOID:12714", source="MONDO:equivalentTo", source="Orphanet:289"}
xref: NCIT:C84684 {source="DOID:12714", source="MONDO:equivalentTo"}
xref: NORD:1083 {source="MONDO:NORD"}
xref: OMIM:225500 {source="Orphanet:289/e", source="DOID:12714", source="MONDO:equivalentTo", source="Orphanet:289"}
xref: Orphanet:289 {source="MONDO:equivalentTo", source="OMIM:225500"}
xref: SCTID:62501005 {source="DOID:12714", source="MONDO:equivalentTo"}
xref: UMLS:C0013903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8584"}
is_a: MONDO:0002254 {source="MONDO:0009162/inferred", source="MONDO:Redundant", source="NCIT:C84684"} ! syndromic disease
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0006025 {source="DOID:12714", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015461 {source="MONDO:Redundant", source="Orphanet:289"} ! short rib-polydactyly syndrome
is_a: MONDO:0018770 {source="OMIM:225500"} ! Jeune syndrome
is_a: MONDO:0019287 {source="MESH:D004613", source="Orphanet:289"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225500", source="Orphanet:289"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome" xsd:anyURI {source="GARD:0001301"}

[Term]
id: MONDO:0009163
name: encephalomalacia, multilocular
synonym: "encephalomalacia, multilocular" EXACT [OMIM:225700]
xref: MEDGEN:341670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565597 {source="MONDO:equivalentTo"}
xref: OMIM:225700 {source="MONDO:equivalentTo"}
xref: UMLS:C1856991 {source="MEDGEN:341670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009164
name: encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
synonym: "encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts" EXACT [OMIM:225740]
synonym: "Lyon syndrome" RELATED [OMIM:225740]
xref: MEDGEN:341669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565596 {source="MONDO:equivalentTo"}
xref: OMIM:225740 {source="MONDO:equivalentTo"}
xref: UMLS:C1856990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341669"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0009165
name: Aicardi-Goutieres syndrome 1
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Ags" RELATED [OMIM:225750]
synonym: "AGS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225750]
synonym: "Aicardi-Goutieres syndrome 1" EXACT [MONDO:Lexical, OMIM:225750]
synonym: "Aicardi-Goutieres syndrome 1, autosomal dominant" RELATED [OMIM:225750]
synonym: "Aicardi-Goutieres syndrome 1, dominant and recessive" EXACT [OMIM:225750, OMIM:genemap2]
synonym: "Aicardi-Goutieres syndrome caused by mutation in TREX1" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 1" EXACT [MONDORULE:1, OMIM:225750]
synonym: "Cree encephalitis" RELATED [OMIM:225750]
synonym: "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" RELATED [OMIM:225750]
synonym: "Pseudotoxoplasmosis syndrome" RELATED [OMIM:225750]
synonym: "TREX1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15167 {source="MONDO:GARD"}
xref: MEDGEN:162912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C165501 {source="MONDO:equivalentTo"}
xref: OMIM:225750 {source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="OMIM:225750"}
xref: UMLS:C0796126 {source="MEDGEN:162912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018866 {source="DC-OMIM:225750", source="MONDO:Redundant", source="OMIM:225750"} ! Aicardi-Goutieres syndrome
is_a: MONDO:0700256 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! TREX1-related type 1 interferonopathy
intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 ! TREX1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225750"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 {source="MONDO:mim2gene_medgen"} ! TREX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0009166
name: pontocerebellar hypoplasia type 4
def: "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." [Orphanet:166063]
subset: gard_rare {source="GARD:343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166063"}
subset: ordo_malformation_syndrome {source="Orphanet:166063"}
subset: orphanet_rare {source="Orphanet:166063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy fatal infantile with olivopontocerebellar hypoplasia" RELATED [GARD:0000343]
synonym: "encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia" RELATED [OMIM:225753]
synonym: "fatal infantile encephalopathy with olivopontocerebellar hypoplasia" EXACT [Orphanet:166063]
synonym: "olivopontocerebellar hypoplasia" EXACT [Orphanet:166063]
synonym: "PCH4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:225753, Orphanet:166063]
synonym: "pontocerebellar hypoplasia, type 4" RELATED [MONDO:Lexical, OMIM:225753]
xref: DOID:0060273 {source="MONDO:equivalentTo"}
xref: GARD:343 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:166063/attributed", source="Orphanet:166063/ntbt", source="Orphanet:166063"}
xref: MEDGEN:384027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536716 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"}
xref: OMIM:225753 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"}
xref: Orphanet:166063 {source="MONDO:equivalentTo", source="OMIM:225753", source="DOID:0060273"}
xref: SCTID:718608006 {source="MONDO:equivalentTo"}
xref: UMLS:C1856974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384027"}
is_a: MONDO:0020135 {source="DC-OMIM:225753", source="DOID:0060273", source="OMIM:225753", source="Orphanet:166063"} ! pontocerebellar hypoplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 {source="MONDO:mim2gene_medgen"} ! TSEN54
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4" xsd:anyURI {source="GARD:0000343"}

[Term]
id: MONDO:0009167
name: Bonnemann-Meinecke-Reich syndrome
def: "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." [Orphanet:1261]
subset: gard_rare {source="GARD:2113", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1261"}
subset: ordo_malformation_syndrome {source="Orphanet:1261"}
subset: orphanet_rare {source="Orphanet:1261"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bonnemann Meinecke Reich syndrome" RELATED [GARD:0002113]
synonym: "encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration" RELATED [GARD:0002113]
synonym: "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" RELATED [OMIM:225755]
synonym: "encephalopathy-intracerebral calcification-retinal degeneration syndrome" EXACT [Orphanet:1261]
xref: GARD:2113 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:1261/attributed", source="Orphanet:1261/ntbt", source="Orphanet:1261"}
xref: MEDGEN:346482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565594 {source="MONDO:equivalentTo"}
xref: OMIM:225755 {source="GARD:0002113", source="Orphanet:1261/e", source="MONDO:equivalentTo", source="Orphanet:1261"}
xref: Orphanet:1261 {source="MONDO:equivalentTo", source="OMIM:225755"}
xref: SCTID:733049004 {source="MONDO:equivalentTo"}
xref: UMLS:C1856973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346482"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1261"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1261", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration" xsd:anyURI {source="GARD:0002113"}

[Term]
id: MONDO:0009168
name: Fowler syndrome
subset: gard_rare {source="GARD:17138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221126"}
subset: ordo_malformation_syndrome {source="Orphanet:221126"}
subset: orphanet_rare {source="Orphanet:221126"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [Orphanet:221126]
synonym: "Encephaloclastic proliferative vasculopathy" EXACT [OMIM:225790, Orphanet:221126]
synonym: "Fowler syndrome" EXACT CLINGEN_LABEL []
synonym: "hydranencephaly, fowler type" RELATED [OMIM:225790]
synonym: "hydrocephaly/hydranencephaly due to cerebral vasculopathy" EXACT [OMIM:225790, Orphanet:221126]
synonym: "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" RELATED [MONDO:Lexical, OMIM:225790]
synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [Orphanet:221126]
synonym: "PVHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225790]
xref: DOID:0111666 {source="MONDO:equivalentTo"}
xref: GARD:17138 {source="MONDO:GARD"}
xref: ICD9:596.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071718 {source="Orphanet:221126", source="Orphanet:221126/e"}
xref: MEDGEN:384026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565593 {source="MONDO:equivalentTo"}
xref: OMIM:225790 {source="MONDO:equivalentTo", source="Orphanet:221126", source="Orphanet:221126/e"}
xref: Orphanet:221126 {source="OMIM:225790", source="MONDO:equivalentTo"}
xref: SCTID:700242002 {source="MONDO:equivalentTo"}
xref: UMLS:C1856972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384026"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:221126", source="Orphanet:221126/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20105 {source="MONDO:mim2gene_medgen"} ! FLVCR2

[Term]
id: MONDO:0009169
name: endocardial fibroelastosis
def: "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia." [Orphanet:2022]
comment: Editor notes: ORDO classifies as both familial and non-familial
subset: gard_rare {source="GARD:6336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1090"}
subset: ordo_disorder {source="Orphanet:2022"}
subset: orphanet_rare {source="Orphanet:2022"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EFE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226000]
synonym: "Elastomyofibrosis" EXACT [DOID:12929]
synonym: "endocardial fibroelastosis" EXACT [MONDO:Lexical, OMIM:226000]
synonym: "endomyocardial fibroelastosis" RELATED [Orphanet:2022]
xref: DOID:12929 {source="MONDO:equivalentTo", source="EFO:0007251"}
xref: EFO:0007251 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6336 {source="MONDO:GARD"}
xref: ICD10CM:I42.4 {source="Orphanet:2022", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929", source="Orphanet:2022/specific"}
xref: icd11.foundation:1971033419 {source="Orphanet:2022", source="MONDO:equivalentTo"}
xref: ICD9:425.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12929"}
xref: MedDRA:10014663 {source="Orphanet:2022", source="Orphanet:2022/e"}
xref: MEDGEN:4041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004695 {source="MONDO:equivalentTo", source="DOID:12929", source="EFO:0007251"}
xref: NANDO:2100060 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200235 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98922 {source="MONDO:equivalentTo", source="DOID:12929"}
xref: NORD:1090 {source="MONDO:NORD"}
xref: OMIM:226000 {source="Orphanet:2022", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929"}
xref: Orphanet:2022 {source="OMIM:226000", source="MONDO:equivalentTo"}
xref: SCTID:65457005 {source="MONDO:equivalentTo", source="DOID:12929"}
xref: UMLS:C0014117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4041"}
is_a: MONDO:0000470 {source="DOID:12929"} ! endocardium disorder
relationship: excluded_subClassOf MONDO:0016333 {source="MONDO:Redundant", source="Orphanet:2022", source="https://orcid.org/0000-0001-5208-3432"} ! familial dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016338 {source="Orphanet:2022", source="https://orcid.org/0000-0001-5208-3432"} ! non-familial dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016340 {source="MONDO:Redundant", source="Orphanet:2022", source="https://orcid.org/0000-0001-5208-3432"} ! familial restrictive cardiomyopathy
relationship: excluded_subClassOf MONDO:0016345 {source="Orphanet:2022", source="https://orcid.org/0000-0001-5208-3432"} ! non-familial restrictive cardiomyopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis" xsd:anyURI {source="GARD:0006336"}

[Term]
id: MONDO:0009170
name: endocardial fibroelastosis and coarctation of abdominal aorta
synonym: "endocardial fibroelastosis and coarctation of abdominal aorta" EXACT [OMIM:226100]
xref: MEDGEN:341665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565592 {source="MONDO:equivalentTo"}
xref: OMIM:226100 {source="MONDO:equivalentTo"}
xref: UMLS:C1856971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341665"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009171
name: endothelial dystrophy, congenital hereditary, with nail hypoplasia
synonym: "endothelial dystrophy, congenital hereditary, with nail hypoplasia" EXACT [OMIM:226110]
xref: MEDGEN:341664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565591 {source="MONDO:equivalentTo"}
xref: OMIM:226110 {source="MONDO:equivalentTo"}
xref: UMLS:C1856970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341664"}
is_a: MONDO:0003847 {source="MESH:C565591/inferred"} ! hereditary disease

[Term]
id: MONDO:0009172
name: enterocolitis
def: "An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use." [NCIT:C79573]
subset: otar {source="MONDO:OTAR"}
synonym: "enterocolitis" EXACT [MONDO:ambiguous, OMIM:226150]
synonym: "enterocolitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:1001481 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0004387 {source="MONDO:otherHierarchy"}
xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004760 {source="MONDO:equivalentTo"}
xref: NCIT:C79573 {source="MONDO:equivalentTo"}
xref: OMIM:226150 {source="MONDO:equivalentTo"}
xref: SCTID:43752006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4966"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "enterocolitis (disease)" xsd:string

[Term]
id: MONDO:0009173
name: congenital enteropathy due to enteropeptidase deficiency
def: "A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated." [Orphanet:168601]
subset: gard_rare {source="GARD:17038", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168601"}
subset: orphanet_rare {source="Orphanet:168601"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital enterokinase deficiency" EXACT [Orphanet:168601]
synonym: "enterokinase deficiency" RELATED [OMIM:226200]
synonym: "enteropeptidase deficiency" RELATED [OMIM:226200]
xref: DOID:0111667 {source="MONDO:equivalentTo"}
xref: GARD:17038 {source="MONDO:GARD"}
xref: ICD10CM:K90.8 {source="Orphanet:168601", source="Orphanet:168601/attributed", source="Orphanet:168601/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562649 {source="MONDO:equivalentTo"}
xref: NANDO:2200910 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:226200 {source="MONDO:equivalentTo", source="Orphanet:168601", source="Orphanet:168601/e"}
xref: Orphanet:168601 {source="OMIM:226200", source="MONDO:equivalentTo"}
xref: SCTID:190952002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82802"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-5208-3432"} ! digestive system disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9490 {source="MONDO:mim2gene_medgen"} ! TMPRSS15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009174
name: protein-losing enteropathy
def: "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine." [MESH:D011504]
subset: gard_rare {source="GARD:15003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:566175"}
subset: orphanet_rare {source="Orphanet:566175"}
subset: rare
synonym: "CHAPLE" RELATED ABBREVIATION [OMIM:226300]
synonym: "complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy" RELATED [OMIM:226300]
synonym: "complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy" RELATED [OMIM:226300]
synonym: "enteropathy, exudative" EXACT [DOID:10611]
synonym: "enteropathy, PROTEIN-losing" RELATED [OMIM:226300]
synonym: "exudative enteropathy" EXACT [DOID:10611]
synonym: "protein-losing enteropathy" EXACT [MONDO:ambiguous]
synonym: "protein-losing enteropathy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:10611 {source="MONDO:equivalentTo"}
xref: GARD:15003 {source="MONDO:GARD"}
xref: HP:0002243 {source="MONDO:otherHierarchy"}
xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011504 {source="DOID:10611", source="MONDO:equivalentTo"}
xref: OMIM:226300 {source="DOID:10611", source="MONDO:equivalentTo"}
xref: Orphanet:566175 {source="MONDO:equivalentTo"}
xref: SCTID:22542007 {source="DOID:10611", source="MONDO:equivalentTo"}
xref: SCTID:66972006 {source="DOID:10611"}
xref: UMLS:C0033680 {source="MONDO:equivalentTo", source="MEDGEN:19522", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005020 {source="DOID:10611", source="MESH:D011504"} ! intestinal disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2665 {source="MONDO:mim2gene_medgen"} ! CD55
property_value: IAO:0000589 "protein-losing enteropathy (disease)" xsd:string

[Term]
id: MONDO:0009175
name: eosinophilic fasciitis
def: "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed." [Orphanet:3165]
subset: gard_rare {source="GARD:6351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3165"}
subset: orphanet_rare {source="Orphanet:3165"}
subset: rare
synonym: "diffuse fasciitis with eosinophilia" EXACT [Orphanet:3165]
synonym: "EF" RELATED ABBREVIATION [GARD:0006351]
synonym: "eosinophilic fasciitis" EXACT [MONDO:ambiguous, OMIM:226350]
synonym: "eosinophilic fasciitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Shulman syndrome" EXACT [Orphanet:3165]
xref: GARD:6351 {source="MONDO:GARD"}
xref: HP:0045029 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M35.4 {source="Orphanet:3165/e", source="Orphanet:3165"}
xref: icd11.foundation:1977389237 {source="MONDO:equivalentTo", source="Orphanet:3165", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:728.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10014954 {source="Orphanet:3165/e", source="Orphanet:3165"}
xref: MEDGEN:82673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562487 {source="MONDO:equivalentTo"}
xref: NCIT:C112116 {source="MONDO:equivalentTo"}
xref: OMIM:226350 {source="Orphanet:3165/e", source="MONDO:equivalentTo", source="Orphanet:3165"}
xref: Orphanet:3165 {source="MONDO:equivalentTo", source="OMIM:226350"}
xref: SCTID:24129002 {source="MONDO:equivalentTo"}
xref: UMLS:C0264005 {source="MEDGEN:82673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004830 {source="NCIT:C112116"} ! fasciitis
is_a: MONDO:0020122 {source="Orphanet:3165"} ! acquired idiopathic inflammatory myopathy
property_value: IAO:0000589 "eosinophilic fasciitis (disease)" xsd:string

[Term]
id: MONDO:0009176
name: epidermodysplasia verruciformis
def: "A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." [https://orcid.org/0000-0001-5208-3432, Orphanet:302]
subset: gard_rare {source="GARD:6357", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:302"}
subset: orphanet_rare {source="Orphanet:302"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermodysplasia verruciformis" EXACT CLINGEN_LABEL [MONDO:Lexical]
synonym: "EV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226400]
synonym: "ever" RELATED [OMIM:226400]
synonym: "Lewandowsky-Lutz dysplasia" EXACT [NCIT:C126877]
synonym: "Lewandowsky-Lutz syndrome" EXACT [Orphanet:302]
synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT [Orphanet:302]
xref: DOID:13777 {source="MONDO:equivalentTo"}
xref: GARD:6357 {source="MONDO:GARD"}
xref: ICD10CM:B07 {source="Orphanet:302", source="Orphanet:302/index", source="Orphanet:302/ntbt"}
xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10052339 {source="Orphanet:302", source="Orphanet:302/e"}
xref: MEDGEN:41831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004819 {source="Orphanet:302", source="DOID:13777", source="MONDO:equivalentTo", source="Orphanet:302/e"}
xref: NANDO:2200768 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126877 {source="MONDO:equivalentTo"}
xref: OMIMPS:226400 {source="MONDO:relatedTo"}
xref: Orphanet:302 {source="OMIM:226400", source="MONDO:equivalentTo"}
xref: SCTID:19138001 {source="DOID:13777", source="MONDO:equivalentTo"}
xref: UMLS:C0014522 {source="MEDGEN:41831", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0005093 ! skin disorder
relationship: excluded_subClassOf MONDO:0006025 {source="DOID:13777", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:226400"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis" xsd:anyURI {source="GARD:0006357"}

[Term]
id: MONDO:0009177
name: late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
subset: gard_rare {source="GARD:299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231556"}
subset: orphanet_rare {source="Orphanet:231556"}
subset: rare
synonym: "epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" RELATED [GARD:0000299]
synonym: "epidermolysis bullosa, late-onset localised junctional, with intellectual disability" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa, late-onset localised junctional, with mental retardation" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa, late-onset localized junctional, with intellectual disability" RELATED [OMIM:226440]
synonym: "epidermolysis bullosa, late-onset localized junctional, with mental retardation" RELATED DEPRECATED [OMIM:226440]
xref: GARD:299 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:231556", source="Orphanet:231556/attributed", source="Orphanet:231556/ntbt"}
xref: MEDGEN:341663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535492 {source="MONDO:equivalentTo"}
xref: OMIM:226440 {source="MONDO:equivalentTo", source="Orphanet:231556", source="Orphanet:231556/e"}
xref: Orphanet:231556 {source="OMIM:226440", source="MONDO:equivalentTo"}
xref: UMLS:C1856969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341663"}
is_a: MONDO:0017612 {source="Orphanet:231556"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0009178
name: epidermolysis bullosa dystrophica Neurotrophica
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermolysis bullosa dystrophica Neurotrophica" EXACT [OMIM:226500]
synonym: "epidermolysis bullosa progressiva, recessive" RELATED [OMIM:226500]
synonym: "epidermolysis bullosa with congenital deafness" RELATED [OMIM:226500]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562637 {source="MONDO:equivalentTo"}
xref: OMIM:226500 {source="MONDO:equivalentTo"}
xref: SCTID:254176007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78666"}
is_a: MONDO:0003847 {source="MESH:C562637/inferred", source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0006543 {source="DC-OMIM:226500", source="MESH:C562637"} ! epidermolysis bullosa dystrophica

[Term]
id: MONDO:0009179
name: recessive dystrophic epidermolysis bullosa
def: "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." [Orphanet:79408]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6308", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79408"}
subset: orphanet_rare {source="Orphanet:79408"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT [DOID:0060642, Orphanet:79408]
synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408]
synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)" RELATED [GARD:0006308]
synonym: "dystrophic epidermolysis bullosa, autosomal recessive" RELATED [OMIM:226600]
synonym: "EBD inversa" EXACT [OMIM:226600, OMIM:genemap2]
synonym: "epidermolysis bullosa dystrophica inversa, autosomal recessive" RELATED [OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, AR" EXACT [OMIM:226600, OMIM:genemap2]
synonym: "epidermolysis bullosa dystrophica, autosomal recessive" RELATED [MONDO:Lexical, OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant" RELATED [OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" EXACT [OMIM:226600, OMIM:genemap2]
synonym: "epidermolysis bullosa dystrophica, generalised severe, autosomal recessive" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" RELATED [OMIM:226600]
synonym: "epidermolysis bullosa dystrophica, Hallopeau-Siemens type" RELATED [OMIM:226600]
synonym: "RDEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226600]
synonym: "RDEB generalisata gravis" EXACT [Orphanet:79408]
synonym: "RDEB, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408]
synonym: "RDEB, severe generalised" RELATED OMO:0003005 []
synonym: "RDEB, severe generalized" RELATED [GARD:0006308]
synonym: "RDEB-sev gen" EXACT [Orphanet:79408]
synonym: "recessive dystrophic epidermolysis bullosa, severe generalised" RELATED OMO:0003005 []
synonym: "recessive dystrophic epidermolysis bullosa, severe generalized" RELATED [GARD:0006308]
synonym: "severe generalised RDEB" NARROW OMO:0003005 []
synonym: "severe generalised recessive dystrophic epidermolysis bullosa" NARROW OMO:0003005 []
synonym: "severe generalized RDEB" NARROW [DOID:0060642, Orphanet:79408]
synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [DOID:0060642]
xref: DOID:0060642 {source="MONDO:equivalentTo"}
xref: GARD:6308 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="DOID:0060642", source="Orphanet:79408", source="Orphanet:79408/attributed", source="Orphanet:79408/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:36311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200238 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201383 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:226600 {source="DOID:0060642", source="MONDO:equivalentTo", source="Orphanet:79408", source="Orphanet:79408/e"}
xref: Orphanet:79408 {source="DOID:0060642", source="MONDO:equivalentTo", source="OMIM:226600"}
xref: Orphanet:79409 {source="OMIM:226600"}
xref: SCTID:48528004 {source="MONDO:equivalentTo"}
xref: UMLS:C0079474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:36311"}
is_a: MONDO:0006543 {source="DC-OMIM:226600", source="DOID:0060642", source="Orphanet:79408"} ! epidermolysis bullosa dystrophica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009180
name: junctional epidermolysis bullosa, non-Herlitz type
def: "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." [Orphanet:89840]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermolysis bullosa Junctionalis, Disentis type" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa Junctionalis, non-Herlitz type" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa Junctionalis, progressive" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa Junctionalis, severe Nonlethal" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa, generalised atrophic benign" RELATED OMO:0003005 []
synonym: "epidermolysis bullosa, generalized atrophic benign" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa, junctional, Localisata variant" RELATED [OMIM:226650]
synonym: "epidermolysis bullosa, junctional, non-Herlitz type" RELATED [OMIM:226650]
synonym: "JEB-I" RELATED [OMIM:226650]
synonym: "JEB-nH" RELATED [GARD:0002151]
synonym: "JEN-nH" EXACT [Orphanet:89840]
synonym: "junctional epidermolysis bullosa inversa" RELATED [OMIM:226650]
xref: ICD10CM:Q81.8 {source="Orphanet:89840/attributed", source="Orphanet:89840/ntbt", source="Orphanet:89840"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201066 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201379 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:226650 {source="Orphanet:89840/e", source="MONDO:equivalentTo", source="Orphanet:89840"}
xref: Orphanet:251393 {source="OMIM:226650"}
xref: Orphanet:79402 {source="OMIM:226650"}
xref: Orphanet:79405 {source="OMIM:226650", source="MONDO:directSiblingOf"}
xref: Orphanet:89840 {source="OMIM:226650", source="MONDO:equivalentObsolete"}
xref: SCTID:33662006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268374 {source="MEDGEN:82798", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017612 {source="DC-OMIM:226650", source="Orphanet:89840"} ! junctional epidermolysis bullosa
disjoint_from: MONDO:0009182 ! junctional epidermolysis bullosa Herlitz type

[Term]
id: MONDO:0009181
name: epidermolysis bullosa simplex 5B, with muscular dystrophy
def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." [https://orcid.org/0000-0001-5208-3432, Orphanet:257]
subset: gard_rare {source="GARD:2137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:257"}
subset: orphanet_rare {source="Orphanet:257"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS-MD" EXACT [GARD:0002137, Orphanet:257]
synonym: "EBSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226670]
synonym: "Epidermolysa bullosa simplex and limb girdle muscular dystrophy" RELATED [GARD:0002137]
synonym: "Epidermolysa bullosa simplex with muscular dystrophy" RELATED [GARD:0002137]
synonym: "epidermolysis bullosa simplex - limb girdle muscular dystrophy" RELATED [GARD:0002137]
synonym: "epidermolysis bullosa simplex 5B, with muscular dystrophy" EXACT [OMIM:226670, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" EXACT [DOID:0090017, OMIM:226670]
synonym: "epidermolysis bullosa simplex with muscular dystrophy" EXACT [MONDO:Lexical, OMIM:226670]
synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXACT [DOID:0090017, Orphanet:257]
synonym: "MD-EBS" RELATED [GARD:0002137, OMIM:226670]
synonym: "MDEBS" RELATED ABBREVIATION [GARD:0002137]
xref: DOID:0090017 {source="MONDO:equivalentTo"}
xref: GARD:2137 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:257", source="Orphanet:257/attributed", source="Orphanet:257/ntbt", source="DOID:0090017"}
xref: MEDGEN:418981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535955 {source="MONDO:equivalentTo"}
xref: NANDO:2201376 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:226670 {source="Orphanet:257", source="GARD:0002137", source="MONDO:equivalentTo", source="Orphanet:257/e", source="DOID:0090017"}
xref: Orphanet:257 {source="OMIM:226670", source="GARD:0002137", source="MONDO:equivalentTo", source="DOID:0090017"}
xref: SCTID:723308003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418981"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015152 {source="Orphanet:257"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016198 {source="Orphanet:257"} ! qualitative or quantitative defects of plectin
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy" xsd:anyURI {source="GARD:0002137"}

[Term]
id: MONDO:0009182
name: junctional epidermolysis bullosa Herlitz type
def: "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." [Orphanet:79404]
subset: gard_rare {source="GARD:2153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79404"}
subset: orphanet_rare {source="Orphanet:79404"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermolysis bullosa Junctionalis, Herlitz type" RELATED [OMIM:226700]
synonym: "epidermolysis bullosa letalis" EXACT [DOID:0060737, Orphanet:79404]
synonym: "epidermolysis bullosa, junctional, Herlitz type" RELATED [OMIM:226700]
synonym: "epidermolysis bullosa, junctional, Herlitz-Pearson type" RELATED [OMIM:226700]
synonym: "Herlitz type epidermolysis bullosa junctionalis" EXACT [DOID:0060737]
synonym: "Herlitz-Pearson type epidermolysis bullosa" RELATED [GARD:0002153]
synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT [DOID:0060737, OMIM:226700]
synonym: "JEB, generalised severe" EXACT OMO:0003005 []
synonym: "JEB, generalized severe" EXACT [Orphanet:79404]
synonym: "JEB-H" EXACT [DOID:0060737, Orphanet:79404]
synonym: "JEB-Herlitz type" EXACT [DOID:0060737, OMIM:226700]
synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT [DOID:0060737, Orphanet:79404]
synonym: "junctional epidermolysis bullosa, generalised severe" RELATED OMO:0003005 []
synonym: "junctional epidermolysis bullosa, generalized severe" RELATED [Orphanet:79404]
synonym: "junctional epidermolysis bullosa, Herlitz type" RELATED [GARD:0002153]
synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [DOID:0060737, Orphanet:79404]
xref: DOID:0060737 {source="MONDO:equivalentTo"}
xref: GARD:2153 {source="MONDO:GARD"}
xref: ICD10CM:Q81.1 {source="Orphanet:79404", source="Orphanet:79404/e", source="Orphanet:79404/specific", source="DOID:0060737"}
xref: MEDGEN:36328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201065 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200119 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201378 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:226700 {source="Orphanet:79404", source="MONDO:equivalentTo", source="Orphanet:79404/e", source="DOID:0060737"}
xref: Orphanet:79404 {source="MONDO:equivalentTo", source="OMIM:226700", source="DOID:0060737"}
xref: SCTID:400140006 {source="MONDO:equivalentTo"}
xref: UMLS:C0079683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:36328"}
is_a: MONDO:0017612 {source="DC-OMIM:226700", source="DOID:0060737", source="Orphanet:79404"} ! junctional epidermolysis bullosa
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type" xsd:anyURI {source="GARD:0002153"}

[Term]
id: MONDO:0009183
name: junctional epidermolysis bullosa with pyloric atresia
def: "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." [Orphanet:79403]
subset: gard_rare {source="GARD:9694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79403"}
subset: orphanet_rare {source="Orphanet:79403"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aplasia cutis congenita with gastrointestinal atresia" RELATED [OMIM:226730]
synonym: "Carmi syndrome" EXACT [DOID:0060733, OMIM:226730, Orphanet:79403]
synonym: "EB-Pa-ACC" RELATED [OMIM:226730]
synonym: "epidermolysis bullosa JUNCTIONALIS with pyloric atresia" RELATED [OMIM:226730]
synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT [DOID:0060733]
synonym: "epidermolysis bullosa with pyloric atresia" RELATED [GARD:0009694]
synonym: "epidermolysis bullosa, junctional, with pyloric atresia" RELATED [OMIM:226730]
synonym: "epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita" RELATED [OMIM:226730]
synonym: "epidermolysis bullosa, junctional, with pyloric stenosis" EXACT [OMIM:226730, OMIM:genemap2]
synonym: "JEB-PA" EXACT [DOID:0060733, Orphanet:79403]
synonym: "JEB-Pa" RELATED [OMIM:226730]
synonym: "junctional epidermolysis bullosa - pyloric atresia" RELATED [GARD:0009694]
synonym: "junctional epidermolysis bullosa with pyloric atresia" EXACT [OMIM:226730]
synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [DOID:0060733]
xref: DOID:0060733 {source="MONDO:equivalentTo"}
xref: GARD:9694 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:79403", source="Orphanet:79403/attributed", source="Orphanet:79403/ntbt", source="DOID:0060733"}
xref: MEDGEN:1810975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535377 {source="MONDO:equivalentTo"}
xref: NANDO:2201380 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:226730 {source="Orphanet:79403", source="MONDO:equivalentTo", source="Orphanet:79403/e", source="DOID:0060733"}
xref: Orphanet:79403 {source="OMIM:226730", source="MONDO:equivalentTo", source="DOID:0060733"}
xref: UMLS:C5676875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810975"}
is_a: MONDO:0017612 {source="DOID:0060733", source="Orphanet:79403"} ! junctional epidermolysis bullosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia" xsd:anyURI {source="GARD:0009694"}

[Term]
id: MONDO:0009184
name: epidermolysis bullosa with diaphragmatic hernia
synonym: "epidermolysis bullosa with diaphragmatic hernia" EXACT [OMIM:226735]
xref: MEDGEN:346473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565588 {source="MONDO:equivalentTo"}
xref: OMIM:226735 {source="MONDO:equivalentTo"}
xref: UMLS:C1856933 {source="MEDGEN:346473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565588/inferred"} ! hereditary disease

[Term]
id: MONDO:0009185
name: amelocerebrohypohidrotic syndrome
def: "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." [Orphanet:1946]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1946"}
subset: ordo_malformation_syndrome {source="Orphanet:1946"}
subset: orphanet_rare {source="Orphanet:1946"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amelocerebrohypohidrotic syndrome" EXACT CLINGEN_LABEL []
synonym: "epilepsy and Yellow teeth" RELATED [OMIM:226750]
synonym: "epilepsy dementia amelogenesis imperfecta" RELATED [GARD:0003128]
synonym: "epilepsy, dementia, and amelogenesis imperfecta" RELATED [OMIM:226750]
synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT [Orphanet:1946]
synonym: "Kohlschutter syndrome" RELATED [OMIM:226750]
synonym: "Kohlschutter Tonz syndrome" RELATED [GARD:0003128]
synonym: "KOHLSCHUTTER-Tonz syndrome" RELATED [MONDO:Lexical, OMIM:226750]
synonym: "Kohlschutter-Tonz syndrome" EXACT [Orphanet:1946]
synonym: "KTZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226750]
xref: DOID:0111668 {source="MONDO:equivalentTo"}
xref: GARD:3128 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:1946/attributed", source="Orphanet:1946/ntbt", source="Orphanet:1946"}
xref: MEDGEN:98036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537213 {source="MONDO:equivalentTo"}
xref: OMIM:226750 {source="Orphanet:1946/e", source="MONDO:equivalentTo", source="Orphanet:1946"}
xref: Orphanet:1946 {source="OMIM:226750", source="MONDO:equivalentTo"}
xref: SCTID:109478007 {source="MONDO:equivalentTo"}
xref: UMLS:C0406740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98036"}
is_a: MONDO:0019287 {source="Orphanet:1946"} ! ectodermal dysplasia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29478 {source="MONDO:mim2gene_medgen"} ! ROGDI

[Term]
id: MONDO:0009186
name: epilepsy, photogenic, with spastic diplegia and intellectual disability
synonym: "epilepsy, photogenic, with spastic diplegia and intellectual disability" EXACT [OMIM:226800]
synonym: "epilepsy, photogenic, with spastic diplegia and mental retardation" EXACT DEPRECATED [OMIM:226800]
xref: MEDGEN:347333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565587 {source="MONDO:equivalentTo"}
xref: OMIM:226800 {source="MONDO:equivalentTo"}
xref: UMLS:C1856931 {source="MEDGEN:347333", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009187
name: celiac disease-epilepsy-cerebral calcification syndrome
def: "Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications." [Orphanet:1459]
subset: gard_rare {source="GARD:2166", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1459"}
subset: orphanet_rare {source="Orphanet:1459"}
subset: rare
synonym: "bilateral occipital calcifications with epilepsy" RELATED [GARD:0002166]
synonym: "CEC" EXACT ABBREVIATION [Orphanet:1459]
synonym: "celiac disease epilepsy occipital calcifications" RELATED [GARD:0002166]
synonym: "celiac disease, epilepsy, and cerebral calcification syndrome" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/antibody-mediated-overview.html]
synonym: "coeliac disease epilepsy occipital calcifications" RELATED OMO:0003005 []
synonym: "coeliac disease, epilepsy, and cerebral calcification syndrome" EXACT OMO:0003005 []
synonym: "epilepsy occipital calcifications" RELATED [GARD:0002166]
synonym: "epilepsy with bilateral occipital calcifications" RELATED [OMIM:226810]
synonym: "familial unilateral and bilateral occipital calcifications and epilepsy" RELATED [GARD:0002166]
xref: GARD:2166 {source="MONDO:GARD"}
xref: MEDGEN:341654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535496 {source="MONDO:equivalentTo"}
xref: OMIM:226810 {source="MONDO:equivalentTo", source="Orphanet:1459", source="Orphanet:1459/e"}
xref: Orphanet:1459 {source="MONDO:equivalentTo", source="OMIM:226810"}
xref: UMLS:C1856930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341654"}
is_a: MONDO:0100029 {source="https://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy

[Term]
id: MONDO:0009188
name: epilepsy-telangiectasia syndrome
def: "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." [Orphanet:1951]
subset: gard_rare {source="GARD:2168", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1951"}
subset: orphanet_rare {source="Orphanet:1951"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy telangiectasia" RELATED [GARD:0002168]
synonym: "epilepsy-telangiectasia" RELATED [OMIM:226850]
synonym: "intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED [GARD:0002168]
synonym: "mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED DEPRECATED [GARD:0002168]
xref: GARD:2168 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:1951", source="Orphanet:1951/attributed", source="Orphanet:1951/ntbt"}
xref: MEDGEN:384017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535497 {source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"}
xref: OMIM:226850 {source="MONDO:equivalentTo", source="Orphanet:1951", source="Orphanet:1951/e"}
xref: Orphanet:1951 {source="OMIM:226850", source="MONDO:equivalentTo"}
xref: UMLS:C1856929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384017"}
is_a: MONDO:0015159 {source="Orphanet:1951"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1951", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:1951", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009189
name: multiple epiphyseal dysplasia type 4
def: "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." [Orphanet:93307]
subset: gard_rare {source="GARD:9793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1881"}
subset: ordo_disorder {source="Orphanet:93307"}
subset: orphanet_rare {source="Orphanet:93307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive multiple epiphyseal dysplasia" EXACT [Orphanet:93307]
synonym: "EDM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:226900, Orphanet:93307]
synonym: "epiphyseal dysplasia multiple 4" RELATED [GARD:0009793]
synonym: "epiphyseal dysplasia, multiple, 4" RELATED [MONDO:Lexical, OMIM:226900]
synonym: "epiphyseal dysplasia, multiple, type 4" EXACT [MONDORULE:1, OMIM:226900]
synonym: "MED4" EXACT ABBREVIATION [Orphanet:93307]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2" EXACT []
synonym: "multiple epiphyseal dysplasia 4" RELATED [GARD:0009793]
synonym: "multiple epiphyseal dysplasia with Bilayered patellae" RELATED [OMIM:226900]
synonym: "multiple epiphyseal dysplasia with clubfoot" RELATED [OMIM:226900]
synonym: "multiple epiphyseal dysplasia with double-layered patella" RELATED [GARD:0009793]
synonym: "multiple epiphyseal dysplasia, autosomal recessive" RELATED [OMIM:226900]
synonym: "Polyepiphyseal dysplasia type 4" EXACT [Orphanet:93307]
synonym: "Recessive Multiple Epiphyseal Dysplasia" EXACT [NORD:1881]
synonym: "rMED" EXACT [Orphanet:93307]
synonym: "SLC26A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0070300 {source="MONDO:equivalentTo"}
xref: GARD:9793 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93307/attributed", source="Orphanet:93307/ntbt", source="Orphanet:93307"}
xref: MEDGEN:376164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535504 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"}
xref: NORD:1881 {source="MONDO:NORD"}
xref: OMIM:226900 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"}
xref: Orphanet:93307 {source="MONDO:equivalentTo", source="OMIM:226900"}
xref: SCTID:715672007 {source="MONDO:equivalentTo"}
xref: UMLS:C1847593 {source="MEDGEN:376164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease
is_a: MONDO:0016648 {source="DC-OMIM:226900", source="MONDO:Redundant", source="OMIM:226900", source="Orphanet:93307"} ! multiple epiphyseal dysplasia
intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 ! SLC26A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6760" xsd:anyURI

[Term]
id: MONDO:0009190
name: epiphyseal dysplasia of femoral head, myopia, and deafness
synonym: "epiphyseal dysplasia of femoral head, myopia, and deafness" EXACT [OMIM:226950]
xref: MEDGEN:346470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565585 {source="MONDO:equivalentTo"}
xref: OMIM:226950 {source="MONDO:equivalentTo"}
xref: UMLS:C1856918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346470"}
is_a: MONDO:0003847 {source="MESH:C565585/inferred"} ! hereditary disease

[Term]
id: MONDO:0009191
name: Lowry-Wood syndrome
def: "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive." [Orphanet:1824]
subset: gard_rare {source="GARD:264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1824"}
subset: orphanet_rare {source="Orphanet:1824"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epiphyseal dysplasia, microcephaly and nystagmus" RELATED [GARD:0000264]
synonym: "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy" EXACT [OMIM:226960]
synonym: "epiphyseal dysplasia-microcephaly-nystagmus syndrome" EXACT [Orphanet:1824]
synonym: "Lowry Wood syndrome" EXACT [GARD:0000264]
synonym: "Lowry-Wood syndrome" EXACT [OMIM:226960]
synonym: "LWS" EXACT ABBREVIATION [GARD:0000264]
xref: GARD:264 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:1824", source="Orphanet:1824/attributed", source="Orphanet:1824/ntbt"}
xref: MedDRA:10062600 {source="Orphanet:1824/e", source="Orphanet:1824"}
xref: MEDGEN:162899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537038 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"}
xref: OMIM:226960 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"}
xref: Orphanet:1824 {source="OMIM:226960", source="MONDO:equivalentTo"}
xref: SCTID:721975004 {source="MONDO:equivalentTo"}
xref: UMLS:C0796021 {source="MEDGEN:162899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100558 {source="https://clinicalgenome.org/affiliation/40065/"} ! RNU4ATAC spectrum disorder
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7497" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome" xsd:anyURI {source="GARD:0000264"}

[Term]
id: MONDO:0009192
name: Wolcott-Rallison syndrome
def: "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." [Orphanet:1667]
subset: gard_rare {source="GARD:5589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1667"}
subset: orphanet_rare {source="Orphanet:1667"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset diabetes mellitus with multiple epiphyseal dysplasia" EXACT [Orphanet:1667]
synonym: "epiphyseal dysplasia multiple with early-onset diabetes mellitus" RELATED [GARD:0005589]
synonym: "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus" RELATED [OMIM:226980]
synonym: "IDDM-MED syndrome" RELATED [GARD:0005589]
synonym: "Iddm-Med syndrome" RELATED [OMIM:226980]
synonym: "MED-IDDM syndrome" RELATED [GARD:0005589]
synonym: "Med-Iddm syndrome" RELATED [OMIM:226980]
synonym: "Wolcott Rallison syndrome" RELATED [GARD:0005589]
synonym: "Wolcott-Rallison syndrome" EXACT CLINGEN_LABEL [OMIM:226980]
synonym: "WRS" EXACT ABBREVIATION [Orphanet:1667]
xref: DOID:0090060 {source="MONDO:equivalentTo"}
xref: GARD:5589 {source="MONDO:GARD"}
xref: ICD10CM:E13 {source="Orphanet:1667", source="Orphanet:1667/attributed", source="Orphanet:1667/ntbt", source="DOID:0090060"}
xref: MEDGEN:140926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536739 {source="MONDO:equivalentTo", source="Orphanet:1667", source="Orphanet:1667/e"}
xref: NCIT:C131007 {source="MONDO:equivalentTo"}
xref: OMIM:226980 {source="GARD:0005589", source="MONDO:equivalentTo", source="Orphanet:1667", source="DOID:0090060", source="Orphanet:1667/e"}
xref: Orphanet:1667 {source="GARD:0005589", source="OMIM:226980", source="MONDO:equivalentTo", source="DOID:0090060"}
xref: SCTID:254066006 {source="MONDO:equivalentTo"}
xref: UMLS:C0432217 {source="MEDGEN:140926", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C131007", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0090060", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0016761 {source="Orphanet:1667", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:1667", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:226980", source="Orphanet:1667"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3255 {source="MONDO:mim2gene_medgen"} ! EIF2AK3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus" xsd:anyURI {source="GARD:0005589"}

[Term]
id: MONDO:0009193
name: epithelial squamous dysplasia, keratinizing desquamative, of urinary tract
synonym: "epithelial squamous dysplasia, keratinizing desquamative, of urinary tract" EXACT [OMIM:226985]
xref: MEDGEN:384010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565584 {source="MONDO:equivalentTo"}
xref: OMIM:226985 {source="MONDO:equivalentTo"}
xref: UMLS:C1856902 {source="MEDGEN:384010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009194
name: immunodeficiency 32B
def: "A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV." [GARD:0009534]
subset: gard_rare {source="GARD:9534", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2566"}
subset: orphanet_rare {source="Orphanet:2566"}
subset: rare
synonym: "CAEBV infection" RELATED [GARD:0009534]
synonym: "CAEBV syndrome" EXACT [Orphanet:2566]
synonym: "CEBV" RELATED ABBREVIATION [GARD:0009534]
synonym: "chronic active Epstein-Barr disease" RELATED [GARD:0009534]
synonym: "chronic active Epstein-Barr virus infection" RELATED [GARD:0009534]
synonym: "chronic EBV infection syndrome" EXACT [Orphanet:2566]
synonym: "chronic Epstein-Barr virus infection syndrome" EXACT [GARD:0009534]
synonym: "Epstein-Barr VIRUS, susceptibility to chronic infection by" RELATED [OMIM:226990]
synonym: "IMD32B" EXACT ABBREVIATION [OMIM:226990]
synonym: "immunodeficiency 32B" EXACT [OMIM:226990]
synonym: "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive" EXACT [OMIM:226990, OMIM:genemap2]
synonym: "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive" EXACT [OMIM:226990]
synonym: "IRF8 deficiency, autosomal recessive" EXACT [OMIM:614894]
synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT [OMIM:614894]
xref: DOID:0111985 {source="MONDO:equivalentTo"}
xref: GARD:9534 {source="MONDO:GARD"}
xref: ICD10CM:B27.0 {source="Orphanet:2566/ntbt", source="Orphanet:2566"}
xref: MEDGEN:865178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200808 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:226990 {source="Orphanet:2566", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:2566/e", source="GARD:0009534"}
xref: OMIM:614894 {source="MONDO:equivalentObsolete"}
xref: Orphanet:2566 {source="OMIM:226990", source="MONDO:equivalentTo"}
xref: UMLS:C4016741 {source="MEDGEN:865178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:614894"} ! hereditary disease
is_a: MONDO:0005108 {source="Orphanet:2566"} ! viral infectious disease
relationship: disease_arises_from_feature MONDO:0005111 ! Epstein-Barr virus infection
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5358 {source="MONDO:mim2gene_medgen"} ! IRF8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection" xsd:anyURI {source="GARD:0009534"}

[Term]
id: MONDO:0009195
name: erythema of acral regions
synonym: "erythema of acral regions" EXACT [OMIM:227000]
xref: MEDGEN:384009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:227000 {source="MONDO:equivalentTo"}
xref: UMLS:C1856900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384009"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009196
name: ermine phenotype
def: "A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging." [Orphanet:999]
subset: gard_rare {source="GARD:407", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:999"}
subset: ordo_malformation_syndrome {source="Orphanet:999"}
subset: orphanet_rare {source="Orphanet:999"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BADS" RELATED ABBREVIATION [OMIM:227010]
synonym: "BADS syndrome" RELATED [MESH:C562663]
synonym: "black locks with albinism and deafness syndrome" RELATED [MESH:C562663, OMIM:227010]
synonym: "black locks, oculocutaneous albinism, and deafness of the sensorineural type" RELATED []
synonym: "ermine phenotype" EXACT [OMIM:227010]
synonym: "O'Doherty syndrome" EXACT [Orphanet:999]
synonym: "pigmentary disorder with hearing loss" EXACT [OMIM:227010, Orphanet:999]
xref: GARD:407 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:999/attributed", source="Orphanet:999/ntbt", source="MONDO:relatedTo", source="Orphanet:999"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:346466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535508 {source="Orphanet:999", source="MONDO:equivalentTo", source="Orphanet:999/e"}
xref: MESH:C562663 {source="MONDO:equivalentTo", source="UMLS:C0268501"}
xref: OMIM:227010 {source="Orphanet:999", source="MONDO:equivalentTo", source="UMLS:C0268501", source="Orphanet:999/e"}
xref: Orphanet:999 {source="MONDO:equivalentTo", source="OMIM:227010"}
xref: SCTID:10170007 {source="MONDO:equivalentTo", source="UMLS:C0268501"}
xref: UMLS:C1856899 {source="MEDGEN:346466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype" xsd:anyURI {source="GARD:0000407"}

[Term]
id: MONDO:0009197
name: transient erythroblastopenia of childhood
def: "An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy." [NCIT:C131683]
subset: gard_rare {source="GARD:7793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98871"}
subset: orphanet_rare {source="Orphanet:98871"}
subset: rare
synonym: "erythroblastopenia, transient" RELATED [OMIM:227050]
synonym: "familial transient erythroblastopenia of childhood" RELATED [GARD:0007793]
synonym: "tec" RELATED [MONDO:Lexical, OMIM:227050]
synonym: "transient acquired pure red cell aplasia" EXACT [Orphanet:98871]
synonym: "transient erythroblastopenia of childhood" EXACT [MONDO:Lexical, OMIM:227050]
xref: GARD:7793 {source="MONDO:GARD"}
xref: ICD10CM:D60.1 {source="Orphanet:98871/e", source="Orphanet:98871"}
xref: ICD9:284.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:68670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536980 {source="Orphanet:98871/e", source="MONDO:equivalentTo", source="Orphanet:98871"}
xref: NCIT:C131683 {source="MONDO:equivalentTo"}
xref: OMIM:227050 {source="Orphanet:98871/e", source="MONDO:equivalentTo", source="Orphanet:98871"}
xref: Orphanet:98871 {source="MONDO:equivalentTo", source="OMIM:227050"}
xref: SCTID:191255003 {source="MONDO:equivalentTo"}
xref: UMLS:C0238478 {source="MONDO:equivalentTo", source="MEDGEN:68670", source="MONDO:MEDGEN"}
is_a: MONDO:0020113 {source="Orphanet:98871"} ! primary acquired red cell aplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7793/transient-erythroblastopenia-of-childhood" xsd:anyURI {source="GARD:0007793"}

[Term]
id: MONDO:0009198
name: congenital lethal erythroderma
def: "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." [Orphanet:1954]
subset: gard_rare {source="GARD:2192", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1954"}
subset: orphanet_rare {source="Orphanet:1954"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital exfoliative erythroderma resistant to treatment" RELATED [GARD:0002192]
synonym: "erythroderma lethal congenital" RELATED [GARD:0002192]
synonym: "erythroderma, lethal congenital" RELATED [OMIM:227090]
synonym: "lethal congenital erythroderma" RELATED [GARD:0002192]
xref: GARD:2192 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1954", source="Orphanet:1954/attributed", source="Orphanet:1954/ntbt"}
xref: MEDGEN:384008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535513 {source="MONDO:equivalentTo", source="Orphanet:1954", source="Orphanet:1954/e"}
xref: OMIM:227090 {source="MONDO:equivalentTo", source="Orphanet:1954", source="Orphanet:1954/e"}
xref: Orphanet:1954 {source="MONDO:equivalentTo", source="OMIM:227090"}
xref: SCTID:722391005 {source="MONDO:equivalentTo"}
xref: UMLS:C1856898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384008"}
is_a: MONDO:0005093 {source="Orphanet:1954", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital" xsd:anyURI {source="GARD:0002192"}

[Term]
id: MONDO:0009199
name: ethanolaminosis
synonym: "ethanolamine kinase deficiency" RELATED [OMIM:227150]
synonym: "ethanolaminosis" EXACT [OMIM:227150]
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562651 {source="MONDO:equivalentTo"}
xref: OMIM:227150 {source="MONDO:equivalentTo"}
xref: SCTID:64235006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268423 {source="MEDGEN:120637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562651/inferred"} ! hereditary disease

[Term]
id: MONDO:0009200
name: eyebrow duplication-syndactyly syndrome
def: "Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive." [Orphanet:3172]
subset: gard_rare {source="GARD:2216", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3172"}
subset: ordo_malformation_syndrome {source="Orphanet:3172"}
subset: orphanet_rare {source="Orphanet:3172"}
subset: rare
synonym: "eyebrows duplication of, with stretchable skin and syndactyly" RELATED [GARD:0002216]
synonym: "eyebrows, DUPLICATION of, with stretchable skin and syndactyly" RELATED [OMIM:227210]
xref: GARD:2216 {source="MONDO:GARD"}
xref: MEDGEN:347327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536383 {source="MONDO:equivalentTo"}
xref: OMIM:227210 {source="Orphanet:3172/e", source="MONDO:equivalentTo", source="Orphanet:3172"}
xref: Orphanet:3172 {source="OMIM:227210", source="MONDO:equivalentTo"}
xref: UMLS:C1856896 {source="MEDGEN:347327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0009201
name: facial abnormalities, kyphoscoliosis, and intellectual disability
synonym: "facial abnormalities, kyphoscoliosis, and intellectual disability" EXACT [OMIM:227250]
synonym: "facial abnormalities, kyphoscoliosis, and mental retardation" EXACT DEPRECATED [OMIM:227250]
xref: MEDGEN:347325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565580 {source="MONDO:equivalentTo"}
xref: OMIM:227250 {source="MONDO:equivalentTo"}
xref: UMLS:C1856893 {source="MEDGEN:347325", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009202
name: Thakker-Donnai syndrome
subset: gard_rare {source="GARD:5158", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1780"}
subset: ordo_malformation_syndrome {source="Orphanet:1780"}
subset: orphanet_rare {source="Orphanet:1780"}
subset: rare
synonym: "dysmorphic facial features and multiple structural abnormalities" RELATED [GARD:0005158]
synonym: "Dysmorphism multiple structural anomalies" RELATED [GARD:0005158]
synonym: "Dysmorphism-multiple structural anomalies syndrome" EXACT [Orphanet:1780]
synonym: "facial dysmorphism with multiple malformations" RELATED [OMIM:227255]
xref: GARD:5158 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1780", source="Orphanet:1780/attributed", source="Orphanet:1780/ntbt"}
xref: MEDGEN:346465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536503 {source="MONDO:equivalentTo"}
xref: OMIM:227255 {source="Orphanet:1780", source="MONDO:equivalentTo", source="Orphanet:1780/e"}
xref: Orphanet:1780 {source="OMIM:227255", source="MONDO:equivalentTo"}
xref: UMLS:C1856892 {source="MEDGEN:346465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:1780", source="Orphanet:1780/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0043009 {source="Orphanet:1780"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome" xsd:anyURI {source="GARD:0005158"}

[Term]
id: MONDO:0009203
name: focal facial dermal dysplasia type III
def: "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." [Orphanet:1807]
subset: gard_rare {source="GARD:121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1807"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bitemporal forceps Marks syndrome" RELATED [OMIM:227260]
synonym: "bitemporal forceps marks syndrome" RELATED [GARD:0000121]
synonym: "facial ectodermal dysplasia" RELATED [OMIM:227260]
synonym: "FFDD type 2" RELATED [GARD:0000121]
synonym: "FFDD type III" EXACT [Orphanet:1807]
synonym: "FFDD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:227260, Orphanet:1807]
synonym: "focal facial dermal dysplasia 3, Setleis type" EXACT [MONDO:Lexical, OMIM:227260, Orphanet:1807]
synonym: "focal facial dermal dysplasia type 2" RELATED [GARD:0000121]
synonym: "focal facial dermal dysplasia type III" EXACT CLINGEN_LABEL []
synonym: "focal Facial dermal dysplasia, type II" RELATED [OMIM:227260]
synonym: "focal Facial dermal dysplasia, type II, formerly" RELATED [OMIM:227260]
synonym: "Setleis syndrome" EXACT [GARD:0000121, OMIM:227260, Orphanet:1807]
xref: GARD:121 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1807", source="Orphanet:1807/attributed", source="Orphanet:1807/ntbt"}
xref: MEDGEN:315643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536385 {source="Orphanet:1807", source="Orphanet:1807/e"}
xref: OMIM:227260 {source="GARD:0000121", source="Orphanet:1807", source="MONDO:equivalentTo", source="Orphanet:1807/e"}
xref: Orphanet:1807 {source="GARD:0000121", source="MONDO:equivalentTo", source="OMIM:227260"}
xref: Orphanet:398166 {source="OMIM:227260"}
xref: SCTID:403771007 {source="MONDO:equivalentTo"}
xref: UMLS:C1744559 {source="MEDGEN:315643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018363 {source="DC-OMIM:227260", source="OMIM:227260", source="Orphanet:1807"} ! focal facial dermal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20670 {source="MONDO:mim2gene_medgen"} ! TWIST2

[Term]
id: MONDO:0009204
name: lethal faciocardiomelic dysplasia
def: "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." [Orphanet:1972]
subset: gard_rare {source="GARD:2229", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1972"}
subset: ordo_malformation_syndrome {source="Orphanet:1972"}
subset: orphanet_rare {source="Orphanet:1972"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "faciocardiomelic dysplasia lethal" RELATED [GARD:0002229]
synonym: "faciocardiomelic dysplasia, lethal" RELATED [OMIM:227270]
xref: GARD:2229 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1972/attributed", source="Orphanet:1972/ntbt", source="Orphanet:1972"}
xref: MEDGEN:384007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565578 {source="MONDO:equivalentTo"}
xref: OMIM:227270 {source="Orphanet:1972", source="MONDO:equivalentTo", source="Orphanet:1972/e"}
xref: Orphanet:1972 {source="MONDO:equivalentTo", source="OMIM:227270"}
xref: SCTID:719400000 {source="MONDO:equivalentTo"}
xref: UMLS:C1856891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384007"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015160 {source="Orphanet:1972"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2229/faciocardiomelic-dysplasia-lethal" xsd:anyURI {source="GARD:0002229"}

[Term]
id: MONDO:0009205
name: faciocardiorenal syndrome
def: "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." [Orphanet:1973]
subset: gard_rare {source="GARD:2230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1973"}
subset: ordo_malformation_syndrome {source="Orphanet:1973"}
subset: orphanet_rare {source="Orphanet:1973"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Eastman Bixler syndrome" RELATED [GARD:0002230]
synonym: "Eastman-Bixler syndrome" EXACT [OMIM:227280, Orphanet:1973]
synonym: "faciocardiorenal syndrome" EXACT [OMIM:227280]
xref: GARD:2230 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1973", source="Orphanet:1973/attributed", source="Orphanet:1973/ntbt"}
xref: MEDGEN:208649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536388 {source="MONDO:equivalentTo", source="Orphanet:1973", source="Orphanet:1973/e"}
xref: OMIM:227280 {source="MONDO:equivalentTo", source="Orphanet:1973", source="Orphanet:1973/e"}
xref: Orphanet:1973 {source="MONDO:equivalentTo", source="OMIM:227280"}
xref: SCTID:723333000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795936 {source="MONDO:equivalentTo", source="MEDGEN:208649", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1973"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome" xsd:anyURI {source="GARD:0002230"}

[Term]
id: MONDO:0009206
name: factor V and factor VIII, combined deficiency of, type 1
def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined deficiency of factor V and factor VIII caused by mutation in LMAN1" EXACT [MONDO:design_pattern]
synonym: "combined factor V and VIII deficiency" EXACT [OMIM:227300, OMIM:genemap2]
synonym: "F5F8D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:227300]
synonym: "factor 5 and Factor VIII, combined deficiency of, 1" EXACT [MONDORULE:1, OMIM:227300]
synonym: "factor V and factor VIII, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:227300]
synonym: "factor V and factor VIII, combined deficiency of, type 1" EXACT CLINGEN_LABEL []
synonym: "familial multiple coagulation Factor deficiency 1" RELATED [OMIM:227300]
synonym: "FMFD 1" RELATED [OMIM:227300]
synonym: "LMAN1 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple coagulation Factor deficiency 1" RELATED [OMIM:227300]
xref: GARD:18630 {source="MONDO:GARD"}
xref: MEDGEN:1637212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:227300 {source="MONDO:equivalentTo"}
xref: Orphanet:35909 {source="OMIM:227300"}
xref: SCTID:84048006 {source="MONDO:equivalentTo"}
xref: UMLS:C4551981 {source="MEDGEN:1637212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018175 {source="DC-OMIM:227300", source="MONDO:Redundant"} ! combined deficiency of factor V and factor VIII
intersection_of: MONDO:0018175 ! combined deficiency of factor V and factor VIII
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6631 ! LMAN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6631 {source="MONDO:mim2gene_medgen"} ! LMAN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009207
name: factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor
subset: gard_rare {source="GARD:18631", source="MONDO:GARD"}
subset: rare
synonym: "factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor" RELATED [OMIM:227310]
synonym: "factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor" EXACT [OMIM:227310]
xref: GARD:18631 {source="MONDO:GARD"}
xref: MEDGEN:346462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:227310 {source="MONDO:equivalentTo"}
xref: Orphanet:35909 {source="OMIM:227310"}
xref: UMLS:C1856882 {source="MEDGEN:346462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018175 {source="DC-OMIM:227310"} ! combined deficiency of factor V and factor VIII

[Term]
id: MONDO:0009208
name: faciothoracogenital syndrome
synonym: "congenital anomalies, involving mainly the face, thorax, and genitalia" RELATED [GARD:0002228]
synonym: "facio thoraco genital syndrome" RELATED [GARD:0002228]
synonym: "faciothoracogenital syndrome" EXACT [OMIM:227320]
xref: MEDGEN:443995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536387 {source="MONDO:equivalentTo"}
xref: OMIM:227320 {source="MONDO:equivalentTo"}
xref: UMLS:C2931184 {source="MEDGEN:443995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009209
name: autosomal recessive faciodigitogenital syndrome
def: "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." [Orphanet:1974]
subset: gard_rare {source="GARD:5124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1974"}
subset: ordo_malformation_syndrome {source="Orphanet:1974"}
subset: orphanet_rare {source="Orphanet:1974"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aarskog-like syndrome" EXACT [OMIM:227330, Orphanet:1974]
synonym: "facio-digito-genital syndrome, Kuwait type" EXACT [Orphanet:1974]
synonym: "faciodigitogenital syndrome, autosomal recessive" RELATED [OMIM:227330]
synonym: "Kuwait type faciodigitogenital syndrome" RELATED [OMIM:227330]
synonym: "Teebi-Naguib-Alawadi syndrome" EXACT [Orphanet:1974]
xref: GARD:5124 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1974", source="Orphanet:1974/attributed", source="Orphanet:1974/ntbt"}
xref: MEDGEN:341637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:227330 {source="MONDO:equivalentTo", source="Orphanet:1974", source="Orphanet:1974/e"}
xref: Orphanet:1974 {source="OMIM:227330", source="MONDO:equivalentTo"}
xref: UMLS:C1856871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341637"}
is_a: MONDO:0006025 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! autosomal recessive disease
is_a: MONDO:0015161 {source="Orphanet:1974"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021005 {source="https://orcid.org/0000-0002-6601-2165"} ! faciodigitogenital syndrome
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1974", source="Orphanet:1974/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:227330", source="Orphanet:1974"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0009210
name: congenital factor V deficiency
def: "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." [Orphanet:326]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:326"}
subset: orphanet_rare {source="Orphanet:326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital factor V deficiency" EXACT CLINGEN_LABEL []
synonym: "deficiency, labile" EXACT [DOID:2216]
synonym: "factor 5 deficiency" RELATED [OMIM:227400]
synonym: "factor V deficiency" RELATED [OMIM:227400]
synonym: "hereditary Factor V deficiency" EXACT [NCIT:C98938]
synonym: "hereditary factor V deficiency" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary hypoproaccelerinaemia" EXACT [DOID:2216]
synonym: "labile Factor deficiency" RELATED [OMIM:227400]
synonym: "labile factor deficiency" EXACT [DOID:2216]
synonym: "Owren disease" EXACT [Orphanet:326]
synonym: "Owren Parahemophilia" RELATED [OMIM:227400]
synonym: "Parahemophilia" EXACT [OMIM:227400, Orphanet:326]
synonym: "Proaccelerin deficiency" EXACT [DOID:2216, Orphanet:326]
xref: DOID:2216 {source="MONDO:equivalentTo"}
xref: GARD:2237 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:326", source="Orphanet:326/attributed", source="Orphanet:326/ntbt", source="DOID:2216"}
xref: MedDRA:10048930 {source="Orphanet:326", source="Orphanet:326/e"}
xref: MEDGEN:4633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005166 {source="DOID:2216"}
xref: NCIT:C98938 {source="MONDO:equivalentTo", source="DOID:2216"}
xref: OMIM:227400 {source="Orphanet:326", source="MONDO:equivalentTo", source="Orphanet:326/e", source="DOID:2216"}
xref: Orphanet:326 {source="OMIM:227400", source="MONDO:equivalentTo"}
xref: SCTID:191284007 {source="DOID:2216"}
xref: SCTID:365157004 {source="DOID:2216"}
xref: SCTID:366160003 {source="DOID:2216"}
xref: SCTID:4320005 {source="DOID:2216"}
xref: SCTID:88776002 {source="MONDO:equivalentTo", source="DOID:2216"}
xref: UMLS:C0015499 {source="MEDGEN:4633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
intersection_of: MONDO:0020586 ! factor V deficiency
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: disease_arises_from_feature HP:0003225 ! Reduced coagulation factor V activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3542 {source="MONDO:mim2gene_medgen"} ! F5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency" xsd:anyURI {source="GARD:0002237"}

[Term]
id: MONDO:0009211
name: congenital factor VII deficiency
def: "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." [Orphanet:327]
subset: gard_rare {source="GARD:2238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:327"}
subset: orphanet_rare {source="Orphanet:327"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital factor VII deficiency" EXACT CLINGEN_LABEL []
synonym: "congenital proconvertin deficiency" EXACT [Orphanet:327]
synonym: "deficiency, stable" RELATED EXCLUDE [DOID:2215]
synonym: "F7 deficiency" RELATED [OMIM:227500]
synonym: "factor 7 deficiency" RELATED [GARD:0002238, OMIM:227500]
synonym: "factor VII deficiency" RELATED [OMIM:227500]
synonym: "hypoproconvertinemia" EXACT [OMIM:227500, Orphanet:327]
xref: DOID:2215 {source="MONDO:equivalentTo"}
xref: GARD:2238 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:327/attributed", source="Orphanet:327/ntbt", source="Orphanet:327", source="DOID:2215"}
xref: MedDRA:10016079 {source="Orphanet:327", source="Orphanet:327/e"}
xref: MEDGEN:473015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005168 {source="DOID:2215"}
xref: NCIT:C131631 {source="MONDO:equivalentTo"}
xref: OMIM:227500 {source="Orphanet:327", source="MONDO:equivalentTo", source="Orphanet:327/e"}
xref: Orphanet:327 {source="OMIM:227500", source="MONDO:equivalentTo"}
xref: SCTID:154820003 {source="DOID:2215"}
xref: SCTID:37193007 {source="DOID:2215"}
xref: UMLS:C0272320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473015"}
is_a: MONDO:0002244 {source="https://orcid.org/0000-0002-6601-2165"} ! factor VII deficiency
is_a: MONDO:0015722 {source="Orphanet:327"} ! congenital vitamin K-dependent coagulation factors deficiency
relationship: disease_arises_from_feature HP:0008169 ! Reduced factor VII activity
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3544 {source="MONDO:mim2gene_medgen"} ! F7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009212
name: congenital factor X deficiency
def: "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." [Orphanet:328]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6404", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:328"}
subset: orphanet_rare {source="Orphanet:328"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital factor X deficiency" EXACT CLINGEN_LABEL []
synonym: "congenital Stuart factor deficiency" EXACT [Orphanet:328]
synonym: "disease, Stuart-Prower" EXACT [DOID:2222]
synonym: "F10 deficiency" RELATED [OMIM:227600]
synonym: "factor 10 deficiency" RELATED [OMIM:227600]
synonym: "factor X deficiency" RELATED [OMIM:227600]
synonym: "factor X deficiency, congenital" RELATED [GARD:0006404]
synonym: "hereditary Factor X deficiency" EXACT [NCIT:C98940]
synonym: "Stuart factor deficiency, congenital" RELATED [GARD:0006404]
synonym: "Stuart-Prower Factor deficiency" RELATED [OMIM:227600]
synonym: "Stuart-Prower factor deficiency" EXACT [Orphanet:328]
xref: DOID:2222 {source="MONDO:equivalentTo"}
xref: GARD:6404 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:328/attributed", source="Orphanet:328/ntbt", source="Orphanet:328"}
xref: icd11.foundation:1886781445 {source="Orphanet:328", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:543976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005171 {source="DOID:2222"}
xref: NCIT:C98940 {source="MONDO:equivalentTo"}
xref: OMIM:227600 {source="Orphanet:328", source="MONDO:equivalentTo", source="Orphanet:328/e"}
xref: Orphanet:328 {source="MONDO:equivalentTo", source="OMIM:227600"}
xref: SCTID:37350004 {source="https://github.com/monarch-initiative/mondo/issues/2944", source="MONDO:equivalentTo"}
xref: SCTID:76642003 {source="DOID:2222"}
xref: UMLS:C0272327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543976"}
is_a: MONDO:0002247 {source="NCIT:C98940", source="https://orcid.org/0000-0002-6601-2165"} ! factor X deficiency
is_a: MONDO:0015722 {source="Orphanet:328"} ! congenital vitamin K-dependent coagulation factors deficiency
relationship: disease_arises_from_feature HP:0008321 ! Reduced factor X activity
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3528 {source="MONDO:mim2gene_medgen"} ! F10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009213
name: Fanconi anemia complementation group C
def: "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA." [NCIT:C125704]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FA3" EXACT ABBREVIATION [DOID:0111087]
synonym: "FACC" EXACT ABBREVIATION [DOID:0111087]
synonym: "facc" RELATED [OMIM:227645]
synonym: "FANCC" EXACT ABBREVIATION [DOID:0111087, MONDO:Lexical, OMIM:227645]
synonym: "Fanconi anaemia complementation group type C" EXACT OMO:0003005 []
synonym: "Fanconi anemia complementation group C" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type C" EXACT [DOID:0111087, MONDORULE:1]
synonym: "Fanconi anemia, complementation group C" RELATED [MONDO:Lexical, OMIM:227645]
synonym: "Fanconi Anemia, complementation group type C" EXACT [MONDORULE:1, OMIM:227645]
synonym: "Fanconi pancytopenia type 3" EXACT [DOID:0111087]
synonym: "Fanconi pancytopenia, type 3" RELATED [OMIM:227645]
xref: DOID:0111087 {source="MONDO:equivalentTo"}
xref: GARD:15168 {source="MONDO:GARD"}
xref: MEDGEN:483324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125704 {source="MONDO:equivalentTo"}
xref: OMIM:227645 {source="MONDO:equivalentTo", source="DOID:0111087"}
xref: UMLS:C3468041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483324"}
is_a: MONDO:0019391 {source="DC-OMIM:227645", source="DOID:0111087", source="NCIT:C125704", source="OMIM:227645"} ! Fanconi anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3584 {source="MONDO:mim2gene_medgen"} ! FANCC

[Term]
id: MONDO:0009214
name: Fanconi anemia complementation group D2
def: "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing." [NCIT:C125706]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FA4" EXACT ABBREVIATION [DOID:0111083]
synonym: "FAD2" EXACT ABBREVIATION [DOID:0111083]
synonym: "Fad2" RELATED [OMIM:227646]
synonym: "FANCD2" EXACT ABBREVIATION [DOID:0111083, MONDO:Lexical, OMIM:227646]
synonym: "Fanconi anemia complementation group D2" EXACT CLINGEN_LABEL []
synonym: "Fanconi Anemia, complementation group D" RELATED [OMIM:227646]
synonym: "Fanconi anemia, complementation group D2" RELATED [MONDO:Lexical, OMIM:227646]
synonym: "Fanconi pancytopenia type 4" EXACT [DOID:0111083]
synonym: "Fanconi pancytopenia, type 4" RELATED [OMIM:227646]
xref: DOID:0111083 {source="MONDO:equivalentTo"}
xref: GARD:15169 {source="MONDO:GARD"}
xref: MEDGEN:463627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125706 {source="MONDO:equivalentTo"}
xref: OMIM:227646 {source="DOID:0111083", source="MONDO:equivalentTo"}
xref: UMLS:C3160738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463627"}
is_a: MONDO:0019391 {source="DC-OMIM:227646", source="DOID:0111083", source="NCIT:C125706", source="OMIM:227646"} ! Fanconi anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3585 {source="MONDO:mim2gene_medgen"} ! FANCD2

[Term]
id: MONDO:0009215
name: Fanconi anemia complementation group A
def: "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." [NCIT:C125702]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Estren-Dameshek variant of Fanconi Anaemia" RELATED OMO:0003005 []
synonym: "Estren-Dameshek variant of Fanconi Anemia" RELATED [OMIM:227650]
synonym: "Estren-Dameshek variant of Fanconi pancytopenia" RELATED [OMIM:227650]
synonym: "FANCA" EXACT ABBREVIATION [DOID:0111095, MONDO:Lexical, OMIM:227650]
synonym: "FANCA Fanconi anaemia" EXACT OMO:0003005 []
synonym: "FANCA Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi Anaemia" RELATED OMO:0003005 []
synonym: "Fanconi anaemia caused by mutation in FANCA" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type A" EXACT OMO:0003005 []
synonym: "Fanconi Anemia" RELATED [OMIM:227650]
synonym: "Fanconi anemia caused by mutation in FANCA" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group A" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type A" EXACT [DOID:0111095, MONDORULE:1]
synonym: "Fanconi anemia, complementation group A" RELATED [MONDO:Lexical, OMIM:227650]
synonym: "Fanconi Anemia, complementation group type a" EXACT [MONDORULE:1, OMIM:227650]
synonym: "Fanconi Anemia, Estren-Dameshek variant" RELATED [OMIM:227650]
xref: DOID:0111095 {source="MONDO:equivalentTo"}
xref: GARD:15170 {source="MONDO:GARD"}
xref: GTR:AN1051558
xref: MEDGEN:483333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125702 {source="MONDO:equivalentTo"}
xref: OMIM:227650 {source="MONDO:equivalentTo", source="DOID:0111095"}
xref: Orphanet:84 {source="OMIM:227650"}
xref: UMLS:C3469521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483333"}
is_a: MONDO:0019391 {source="DC-OMIM:227650", source="DOID:0111095", source="EFO:0009044", source="MONDO:Redundant", source="NCIT:C125702", source="OMIM:227650"} ! Fanconi anemia
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3582 ! FANCA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3582 {source="MONDO:mim2gene_medgen"} ! FANCA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009216
name: glycogen storage disease due to GLUT2 deficiency
def: "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." [Orphanet:2088]
subset: gard_rare {source="GARD:2268", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2088"}
subset: orphanet_rare {source="Orphanet:2088"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bickel-Fanconi glycogenosis" EXACT [Orphanet:2088]
synonym: "Fanconi Bickel syndrome" EXACT [GARD:0002268]
synonym: "Fanconi syndrome with intestinal malabsorption and galactose intolerance" EXACT [GARD:0002268, OMIM:227810]
synonym: "Fanconi-Bickel disease" EXACT [Orphanet:2088]
synonym: "Fanconi-Bickel syndrome" EXACT [MONDO:Lexical, OMIM:227810]
synonym: "FBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:227810]
synonym: "GLUT2 deficiency" RELATED [GARD:0002268]
synonym: "glycogen storage disease 11" RELATED AMBIGUOUS [OMIM:227810]
synonym: "glycogen storage disease due to GLUT2 deficiency" EXACT [GARD:0002268]
synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [Orphanet:2088]
synonym: "glycogen storage disease type XI" RELATED AMBIGUOUS [Orphanet:2088]
synonym: "glycogen storage disease XI" RELATED [GARD:0002268]
synonym: "glycogenosis due to GLUT2 deficiency" EXACT [Orphanet:2088]
synonym: "glycogenosis Fanconi EXACT" RELATED [GARD:0002268]
synonym: "glycogenosis, Fanconi type" RELATED [OMIM:227810]
synonym: "GSD due to GLUT2 deficiency" EXACT [Orphanet:2088]
synonym: "GSD type 11" RELATED AMBIGUOUS [Orphanet:2088]
synonym: "GSD type XI" RELATED AMBIGUOUS [Orphanet:2088]
synonym: "hepatic glycogenosis with amino aciduria and glucosuria" RELATED [GARD:0002268, OMIM:227810]
synonym: "hepatic glycogenosis with Fanconi nephropathy" RELATED [OMIM:227810]
synonym: "hepatorenal glycogenosis with renal Fanconi syndrome" RELATED [GARD:0002268, OMIM:227810]
synonym: "hepatorenal glycogenosis with renal fanconi syndrome" RELATED [GARD:0002268]
synonym: "pseudo-phlorizin diabetes" RELATED [GARD:0002268, OMIM:227810]
xref: GARD:2268 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:2088", source="Orphanet:2088/attributed", source="Orphanet:2088/ntbt"}
xref: MEDGEN:501176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:227810 {source="Orphanet:2088", source="GARD:0002268", source="MONDO:equivalentTo", source="Orphanet:2088/e"}
xref: Orphanet:2088 {source="GARD:0002268", source="MONDO:equivalentTo", source="OMIM:227810"}
xref: SCTID:61598006 {source="MONDO:equivalentTo"}
xref: UMLS:C3495427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501176"}
is_a: MONDO:0002412 {source="Orphanet:2088"} ! disorder of glycogen metabolism
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11006 ! SLC2A2
relationship: excluded_subClassOf MONDO:0005066 {source="Orphanet:2088", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
relationship: excluded_subClassOf MONDO:0017706 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of carbohydrate transmembrane transport and absorption
relationship: excluded_subClassOf MONDO:0019226 {source="Orphanet:2088", source="https://orcid.org/0000-0001-5208-3432"} ! glucose transport disorder
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:2088", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11006 {source="MONDO:mim2gene_medgen"} ! SLC2A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome" xsd:anyURI {source="GARD:0002268"}

[Term]
id: MONDO:0009217
name: Fanconi-like syndrome
def: "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies." [DOID:0090066]
synonym: "Fanconi-like syndrome" EXACT [OMIM:227850]
xref: DOID:0090066 {source="MONDO:equivalentTo"}
xref: MEDGEN:56237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536855 {source="MONDO:equivalentTo"}
xref: OMIM:227850 {source="DOID:0090066", source="MONDO:equivalentTo"}
xref: SCTID:236469003 {source="MONDO:equivalentTo"}
xref: UMLS:C0151638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56237"}
is_a: MONDO:0002254 {source="DOID:0090066"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009218
name: Farber lipogranulomatosis
def: "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." [Orphanet:333]
subset: gard_rare {source="GARD:6426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:333"}
subset: orphanet_rare {source="Orphanet:333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AC deficiency" RELATED [OMIM:228000]
synonym: "acid ceramidase deficiency" EXACT [DOID:0050464, OMIM:228000, Orphanet:333]
synonym: "ceramidase deficiency" RELATED [OMIM:228000]
synonym: "Farber disease" EXACT [DOID:0050464, OMIM:228000]
synonym: "Farber lipogranulomatosis" EXACT [MONDO:Lexical, OMIM:228000, Orphanet:333]
synonym: "Farber's disease" RELATED [GARD:0006426]
synonym: "FRBRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228000]
synonym: "N-LAURYLSPHINGOSINE deacylase deficiency" EXACT [DOID:0050464]
synonym: "N-Laurylsphingosine deacylase deficiency" RELATED [OMIM:228000]
xref: DOID:0050464 {source="MONDO:equivalentTo"}
xref: GARD:6426 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:333/ntbt", source="Orphanet:333/inclusion", source="Orphanet:333"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537075 {source="Orphanet:333/e", source="Orphanet:333"}
xref: MESH:D055577 {source="DOID:0050464", source="Orphanet:333/e", source="MONDO:equivalentTo", source="Orphanet:333"}
xref: NANDO:1200086 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200565 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84710 {source="DOID:0050464", source="MONDO:equivalentTo"}
xref: OMIM:228000 {source="DOID:0050464", source="Orphanet:333/e", source="MONDO:equivalentTo", source="Orphanet:333"}
xref: Orphanet:333 {source="MONDO:equivalentTo", source="OMIM:228000"}
xref: SCTID:79935000 {source="DOID:0050464", source="MONDO:equivalentTo"}
xref: UMLS:C0268255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78654"}
is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C84710"} ! inherited lipid metabolism disorder
is_a: MONDO:0019255 {source="MESH:D055577", source="MONDO:0018299-obsoleted", source="Orphanet:333"} ! sphingolipidosis
is_a: MONDO:0100524 {source="https://clinicalgenome.org/affiliation/40110/"} ! ASAH1-related sphingolipidosis
relationship: excluded_subClassOf MONDO:0019296 {source="Orphanet:333", source="https://orcid.org/0000-0001-5208-3432"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 {source="MONDO:mim2gene_medgen"} ! ASAH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5881" xsd:anyURI

[Term]
id: MONDO:0009219
name: fascial dystrophy, congenital
subset: gard_rare {source="GARD:15171", source="MONDO:GARD"}
subset: rare
synonym: "fascial dystrophy, congenital" EXACT [OMIM:228020]
xref: GARD:15171 {source="MONDO:GARD"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563219 {source="MONDO:equivalentTo"}
xref: OMIM:228020 {source="MONDO:equivalentTo"}
xref: Orphanet:2833 {source="OMIM:228020"}
xref: SCTID:399948007 {source="MONDO:equivalentTo"}
xref: UMLS:C1302740 {source="MONDO:equivalentTo", source="MEDGEN:226997", source="MONDO:MEDGEN"}
is_a: MONDO:0008492 {source="Orphanet:2833/btnt"} ! stiff skin syndrome

[Term]
id: MONDO:0009220
name: visceral steatosis, congenital
synonym: "fatal neonatal hepatic steatosis" RELATED [GARD:0008514]
synonym: "fatty liver disease, congenital" RELATED [OMIM:228100]
synonym: "fatty metamorphosis of viscera" RELATED [OMIM:228100]
synonym: "steatosis of liver" RELATED [OMIM:228100]
synonym: "visceral steatosis" RELATED [GARD:0008514]
synonym: "visceral steatosis, congenital" EXACT [OMIM:228100]
synonym: "White liver disease" RELATED [OMIM:228100]
xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536351 {source="MONDO:equivalentTo"}
xref: OMIM:228100 {source="MONDO:equivalentTo"}
xref: SCTID:270881008 {source="MONDO:equivalentTo"}
xref: UMLS:C0341447 {source="MEDGEN:90962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004790 ! fatty liver disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009221
name: femur-fibula-ulna complex
def: "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." [Orphanet:2019]
subset: gard_rare {source="GARD:2286", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2019"}
subset: ordo_malformation_syndrome {source="Orphanet:2019"}
subset: orphanet_rare {source="Orphanet:2019"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "femur fibula ulna syndrome" RELATED [GARD:0002286]
synonym: "femur-fibula-ulna dysostosis" EXACT [Orphanet:2019]
synonym: "femur-fibula-ulna syndrome" EXACT [OMIM:228200, Orphanet:2019]
synonym: "FFU complex" EXACT [Orphanet:2019]
synonym: "Ffu syndrome" RELATED [OMIM:228200]
synonym: "PFFD" EXACT ABBREVIATION [Orphanet:2019]
xref: GARD:2286 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:2019", source="Orphanet:2019/attributed", source="Orphanet:2019/ntbt"}
xref: MedDRA:10068448 {source="Orphanet:2019", source="Orphanet:2019/e"}
xref: MEDGEN:347305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537918 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"}
xref: OMIM:228200 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"}
xref: Orphanet:2019 {source="OMIM:228200", source="MONDO:equivalentTo"}
xref: UMLS:C1856790 {source="MEDGEN:347305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="PMID:8500790", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:8500790", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0009222
name: Gollop-Wolfgang complex
def: "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." [Orphanet:1986]
subset: gard_rare {source="GARD:2285", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1986"}
subset: ordo_malformation_syndrome {source="Orphanet:1986"}
subset: orphanet_rare {source="Orphanet:1986"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bifid femur-monodactylous ectrodactyly syndrome" EXACT [Orphanet:1986]
synonym: "femur bifid with monodactylous ectrodactyly" RELATED [GARD:0002285]
synonym: "femur, unilateral bifid, with monodactylous ectrodactyly" RELATED [OMIM:228250]
synonym: "Gollop-Wolfgang complex" EXACT [OMIM:228250]
synonym: "GWC" RELATED ABBREVIATION [GARD:0002285]
xref: GARD:2285 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:1986", source="Orphanet:1986/attributed", source="Orphanet:1986/ntbt"}
xref: MEDGEN:341622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537917 {source="MONDO:equivalentTo"}
xref: OMIM:228250 {source="MONDO:equivalentTo", source="Orphanet:1986", source="Orphanet:1986/e"}
xref: Orphanet:1986 {source="MONDO:equivalentTo", source="OMIM:228250"}
xref: SCTID:716006003 {source="MONDO:equivalentTo"}
xref: UMLS:C1856789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341622"}
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009223
name: hypogonadotropic hypogonadism 23 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10127", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:325448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY disorder of sex development due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "46,XY DSD due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "46,XY DSD due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)" RELATED [GARD:0010127]
synonym: "fertile eunuch syndrome" EXACT [DOID:0090091, OMIM:228300]
synonym: "HH23" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228300]
synonym: "hypogonadotropic hypogonadism 23 without anosmia" RELATED [MONDO:Lexical, OMIM:228300]
synonym: "hypogonadotropic hypogonadism caused by mutation in LHB" EXACT [MONDO:design_pattern]
synonym: "Leydig cell hypoplasia due to LHB deficiency" EXACT [DOID:0090091]
synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448]
synonym: "LHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pasqualini syndrome" EXACT [DOID:0090091, OMIM:228300]
xref: DOID:0090091 {source="MONDO:equivalentTo"}
xref: GARD:10127 {source="MONDO:GARD"}
xref: ICD10CM:Q56.1 {source="Orphanet:325448/attributed", source="Orphanet:325448/ntbt", source="Orphanet:325448", source="DOID:0090091"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537919 {source="MONDO:equivalentTo"}
xref: OMIM:228300 {source="Orphanet:325448", source="MONDO:equivalentTo", source="Orphanet:325448/e", source="DOID:0090091"}
xref: Orphanet:325448 {source="OMIM:228300", source="MONDO:equivalentTo", source="DOID:0090091"}
xref: SCTID:8829008 {source="MONDO:equivalentTo"}
xref: UMLS:C0271582 {source="MEDGEN:82881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090091", source="MONDO:Redundant", source="OMIM:228300"} ! hypogonadotropic hypogonadism
is_a: MONDO:0019155 {source="Orphanet:325448"} ! Leydig cell hypoplasia
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6584 ! LHB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6584 {source="MONDO:mim2gene_medgen"} ! LHB

[Term]
id: MONDO:0009224
name: fetal iodine syndrome
def: "Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)." [Orphanet:1910]
subset: gard_rare {source="GARD:2304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1910"}
subset: ordo_malformation_syndrome {source="Orphanet:1910"}
subset: orphanet_rare {source="Orphanet:1910"}
subset: rare
synonym: "endemic cretinism" RELATED DEPRECATED [OMIM:228355]
synonym: "fetal iodine deficiency disorder" RELATED [MONDO:Lexical, OMIM:228355]
synonym: "FIDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228355]
synonym: "foetal iodine deficiency disorder" RELATED OMO:0003005 []
xref: GARD:2304 {source="MONDO:GARD"}
xref: ICD10CM:P72.2 {source="Orphanet:1910", source="Orphanet:1910/ntbt"}
xref: MEDGEN:907922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:228355 {source="MONDO:equivalentTo", source="Orphanet:1910", source="Orphanet:1910/e"}
xref: Orphanet:1910 {source="OMIM:228355", source="MONDO:equivalentTo"}
xref: SCTID:718228001 {source="MONDO:equivalentTo"}
xref: UMLS:C4273860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907922"}
is_a: MONDO:0016555 {source="Orphanet:1910"} ! transient congenital hypothyroidism due to maternal factor
is_a: MONDO:0016677 {source="Orphanet:1910"} ! toxic or drug-related embryofetopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome" xsd:anyURI {source="GARD:0002304"}

[Term]
id: MONDO:0009225
name: fever, familial lifelong persistent
synonym: "fever, familial lifelong persistent" EXACT [OMIM:228400]
xref: MEDGEN:346443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565569 {source="MONDO:equivalentTo"}
xref: OMIM:228400 {source="MONDO:equivalentTo"}
xref: UMLS:C1856788 {source="MEDGEN:346443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009226
name: fibrochondrogenesis 1
def: "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COL11A1 fibrochondrogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FBCG1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228520]
synonym: "fibrochondrogenesis 1" EXACT [MONDO:Lexical, OMIM:228520]
synonym: "fibrochondrogenesis caused by mutation in COL11A1" EXACT [MONDO:design_pattern]
synonym: "fibrochondrogenesis type 1" EXACT [MONDORULE:1, OMIM:228520]
xref: DOID:0080672 {source="MONDO:equivalentTo"}
xref: MEDGEN:479768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:228520 {source="MONDO:equivalentTo"}
xref: Orphanet:2021 {source="OMIM:228520"}
xref: UMLS:C3278138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:479768"}
is_a: MONDO:0016068 {source="DC-OMIM:228520", source="MONDO:Redundant", source="OMIM:228520"} ! fibrochondrogenesis
intersection_of: MONDO:0016068 ! fibrochondrogenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 ! COL11A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009227
name: myofibromatosis, infantile, 1
def: "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibromatosis, congenital generalised" RELATED OMO:0003005 []
synonym: "fibromatosis, congenital generalized" RELATED [OMIM:228550]
synonym: "IMF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228550]
synonym: "myofibromatosis caused by mutation in PDGFRB" EXACT [MONDO:design_pattern]
synonym: "myofibromatosis, infantile, 1" EXACT [MONDO:Lexical, OMIM:228550]
synonym: "myofibromatosis, infantile, type 1" EXACT [MONDORULE:1, OMIM:228550]
synonym: "myofibromatosis, juvenile" RELATED [OMIM:228550]
synonym: "PDGFRB myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1632352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562978 {source="MONDO:equivalentTo"}
xref: OMIM:228550 {source="MONDO:equivalentTo"}
xref: Orphanet:2591 {source="OMIM:228550"}
xref: SCTID:254146000 {source="MONDO:equivalentTo"}
xref: UMLS:C4551572 {source="MEDGEN:1632352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016824 {source="DC-OMIM:228550", source="MESH:C562978", source="MONDO:Redundant", source="OMIM:228550"} ! infantile myofibromatosis
intersection_of: MONDO:0016824 ! infantile myofibromatosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 ! PDGFRB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB

[Term]
id: MONDO:0009228
name: gingival fibromatosis-facial dysmorphism syndrome
def: "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." [Orphanet:2025]
subset: gard_rare {source="GARD:10528", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2025"}
subset: ordo_malformation_syndrome {source="Orphanet:2025"}
subset: orphanet_rare {source="Orphanet:2025"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibromatosis, gingival, with distinctive facies" RELATED [OMIM:228560]
synonym: "gingival fibromatosis with craniofacial dysmorphism" RELATED [GARD:0010528]
synonym: "gingival fibromatosis with distinctive facies" RELATED [GARD:0010528]
xref: GARD:10528 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2025", source="Orphanet:2025/attributed", source="Orphanet:2025/ntbt"}
xref: MEDGEN:346437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565567 {source="MONDO:equivalentTo"}
xref: OMIM:228560 {source="Orphanet:2025", source="MONDO:equivalentTo", source="Orphanet:2025/e", source="GARD:0010528"}
xref: Orphanet:2025 {source="MONDO:equivalentTo", source="OMIM:228560"}
xref: UMLS:C1856761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346437"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2025"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2025", source="Orphanet:2025/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-with-distinctive-facies" xsd:anyURI {source="GARD:0010528"}

[Term]
id: MONDO:0009229
name: hyaline fibromatosis syndrome
subset: gard_rare {source="GARD:22029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498474"}
subset: orphanet_rare {source="Orphanet:498474"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228600]
synonym: "hyaline fibromatosis syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:228600]
synonym: "hyalinosis, systemic" RELATED [OMIM:228600]
synonym: "infantile systemic hyalinosis (former subtype)" RELATED [GARD:0006807]
synonym: "inherited systemic hyalinosis" RELATED [GARD:0006807]
synonym: "juvenile hyaline fibromatosis (former subtype)" RELATED [GARD:0006807]
xref: DOID:0111669 {source="MONDO:equivalentTo"}
xref: GARD:22029 {source="MONDO:GARD"}
xref: MEDGEN:1805033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:228600 {source="MONDO:equivalentTo"}
xref: Orphanet:2028 {source="OMIM:228600"}
xref: Orphanet:498474 {source="MONDO:equivalentTo"}
xref: UMLS:C5574677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805033"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019707 {source="Orphanet:498474"} ! primary osteolysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21732 {source="MONDO:mim2gene_medgen"} ! ANTXR2

[Term]
id: MONDO:0009230
name: fibrosclerosis, multifocal
subset: gard_rare {source="GARD:5697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibrosclerosis, multifocal" EXACT [OMIM:228800]
synonym: "mediastinal fibrosis, familial" RELATED [OMIM:228800]
synonym: "multifocal fibrosclerosis" RELATED [GARD:0005697]
synonym: "retroperitoneal fibrosis, familial" RELATED [OMIM:228800]
xref: GARD:5697 {source="MONDO:GARD"}
xref: ICD10CM:M35.5 {source="MONDO:equivalentTo"}
xref: ICD9:710.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:105414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537375 {source="MONDO:equivalentTo"}
xref: OMIM:228800 {source="MONDO:equivalentTo"}
xref: Orphanet:49041 {source="OMIM:228800"}
xref: SCTID:111210001 {source="MONDO:equivalentTo"}
xref: UMLS:C0494949 {source="MONDO:equivalentTo", source="MEDGEN:105414", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018848 {source="MESH:C537375", source="Orphanet:49041/btnt"} ! IgG4-related retroperitoneal fibrosis

[Term]
id: MONDO:0009231
name: acromesomelic dysplasia 2B
subset: gard_rare {source="GARD:9879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2639"}
subset: ordo_malformation_syndrome {source="Orphanet:2639"}
subset: orphanet_rare {source="Orphanet:2639"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acromesomelic dysplasia 2B" EXACT [OMIM:228900, OMIM:genemap2]
synonym: "Du Pan syndrome" EXACT [DOID:0050790, OMIM:228900, Orphanet:2639]
synonym: "fibular aplasia-complex brachydactyly syndrome" RELATED [Orphanet:2639]
synonym: "fibular hypoplasia and complex brachydactyly" EXACT [OMIM:228900]
xref: DOID:0050790 {source="MONDO:equivalentTo"}
xref: GARD:9879 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:2639/attributed", source="Orphanet:2639/ntbt", source="Orphanet:2639"}
xref: MEDGEN:346432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537931 {source="MONDO:equivalentTo"}
xref: OMIM:228900 {source="Orphanet:2639/e", source="MONDO:equivalentTo", source="Orphanet:2639", source="DOID:0050790"}
xref: Orphanet:2639 {source="MONDO:equivalentTo", source="OMIM:228900"}
xref: SCTID:715474004 {source="MONDO:equivalentTo"}
xref: UMLS:C1856738 {source="MEDGEN:346432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:0050790", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019696 {source="OMIM:228900", source="Orphanet:2639", source="PMID:31633310"} ! acromesomelic dysplasia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:228900", source="Orphanet:2639"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly" xsd:anyURI {source="GARD:0009879"}

[Term]
id: MONDO:0009232
name: Fuhrmann syndrome
def: "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." [Orphanet:2854]
subset: gard_rare {source="GARD:2410", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2854"}
subset: ordo_malformation_syndrome {source="Orphanet:2854"}
subset: orphanet_rare {source="Orphanet:2854"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies" RELATED [GARD:0002410]
synonym: "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly" RELATED [OMIM:228930]
synonym: "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome" EXACT [Orphanet:2854]
synonym: "Fuhrmann syndrome" EXACT [OMIM:228930]
synonym: "Fuhrmann-Rieger-de Sousa syndrome" EXACT [Orphanet:2854]
xref: DOID:0090067 {source="MONDO:equivalentTo"}
xref: GARD:2410 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="DOID:0090067", source="Orphanet:2854", source="Orphanet:2854/attributed", source="Orphanet:2854/ntbt"}
xref: MEDGEN:346429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538189 {source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"}
xref: OMIM:228930 {source="DOID:0090067", source="MONDO:equivalentTo", source="Orphanet:2854", source="Orphanet:2854/e"}
xref: Orphanet:2854 {source="DOID:0090067", source="OMIM:228930", source="MONDO:equivalentTo"}
xref: SCTID:721296004 {source="MONDO:equivalentTo"}
xref: UMLS:C1856728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346429"}
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12786 {source="MONDO:mim2gene_medgen"} ! WNT7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome" xsd:anyURI {source="GARD:0002410"}

[Term]
id: MONDO:0009233
name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
def: "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." [Orphanet:2256]
subset: gard_rare {source="GARD:320", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2256"}
subset: ordo_malformation_syndrome {source="Orphanet:2256"}
subset: orphanet_rare {source="Orphanet:2256"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fibulo ulnar hypoplasia renal anomalies" RELATED [GARD:0000320]
synonym: "FIBULOULNAR aplasia or hypoplasia with renal abnormalities" RELATED [OMIM:228940]
synonym: "Saito Kuba Tsuruta syndrome" RELATED [GARD:0000320]
synonym: "Saito-Kuba-Tsuruta syndrome" EXACT [Orphanet:2256]
xref: GARD:320 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2256", source="Orphanet:2256/attributed", source="Orphanet:2256/ntbt"}
xref: MEDGEN:383972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537226 {source="MONDO:equivalentTo"}
xref: OMIM:228940 {source="Orphanet:2256", source="MONDO:equivalentTo", source="Orphanet:2256/e"}
xref: Orphanet:2256 {source="OMIM:228940", source="MONDO:equivalentTo"}
xref: SCTID:716094008 {source="MONDO:equivalentTo"}
xref: UMLS:C1856727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383972"}
is_a: MONDO:0015161 {source="Orphanet:2256"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0009234
name: congenital high-molecular-weight kininogen deficiency
def: "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." [NCIT:C98946]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:483"}
subset: orphanet_rare {source="Orphanet:483"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fitzgerald trait" RELATED [MESH:C537060, OMIM:228960]
synonym: "Fitzgerald trait kininogen deficiency, total, included" RELATED [MESH:C537060]
synonym: "Flaujeac factor deficiency" RELATED [GARD:0002684]
synonym: "Flaujeac trait" RELATED [OMIM:228960]
synonym: "Flaujeac trait, included" RELATED [MESH:C537060]
synonym: "high molecular weight kininogen deficiency" EXACT [MESH:C537060, OMIM:228960, OMIM:genemap2]
synonym: "high-molecular-weight kininogen deficiency, congenital" RELATED [GARD:0002684]
synonym: "HMWK" RELATED ABBREVIATION [GARD:0002684]
synonym: "HMWK deficiency" RELATED [MESH:C537060, OMIM:228960]
synonym: "kininogen deficiency" EXACT [OMIM:228960, OMIM:genemap2]
synonym: "kininogen deficiency, high molecular weight" RELATED [MESH:C537060, OMIM:228960]
synonym: "kininogen deficiency, high molecular weight and Low molecular weight" RELATED [OMIM:228960]
synonym: "kininogen deficiency, high molecular weight and LOW molecular weight, included" RELATED [MESH:C537060]
synonym: "kininogen deficiency, total" RELATED [MESH:C537060, OMIM:228960]
synonym: "Williams trait" RELATED [OMIM:228960]
synonym: "Williams trait, included" RELATED [MESH:C537060]
xref: DOID:0111676 {source="MONDO:equivalentTo"}
xref: GARD:2684 {source="MONDO:GARD"}
xref: ICD10CM:D68.8 {source="Orphanet:483", source="Orphanet:483/attributed", source="Orphanet:483/ntbt"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537060 {source="MONDO:equivalentTo"}
xref: NANDO:2200685 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98946 {source="MONDO:equivalentTo"}
xref: OMIM:228960 {source="GARD:0002684", source="Orphanet:483/e", source="MONDO:equivalentTo", source="Orphanet:483"}
xref: Orphanet:483 {source="GARD:0002684", source="OMIM:228960", source="MONDO:equivalentTo"}
xref: SCTID:27312002 {source="MONDO:equivalentTo"}
xref: UMLS:C0272340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75780"}
is_a: MONDO:0001531 {source="MESH:C537060", source="MONDO:Redundant", source="NCIT:C98946"} ! blood coagulation disease
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6383 {source="MONDO:mim2gene_medgen"} ! KNG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency" xsd:anyURI {source="GARD:0002684"}

[Term]
id: MONDO:0009235
name: familial benign flecked retina
def: "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." [Orphanet:363989]
subset: gard_rare {source="GARD:18651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363989"}
subset: orphanet_rare {source="Orphanet:363989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FLECK retina, familial benign" RELATED [MONDO:Lexical, OMIM:228980]
synonym: "fleck retina, familial benign" EXACT [OMIM:228980, OMIM:genemap2]
synonym: "FRFB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228980]
xref: DOID:0111677 {source="MONDO:equivalentTo"}
xref: GARD:18651 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:363989/attributed", source="Orphanet:363989/ntbt", source="MONDO:directSiblingOf", source="Orphanet:363989"}
xref: MEDGEN:341605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565564 {source="MONDO:equivalentTo"}
xref: OMIM:228980 {source="Orphanet:363989/e", source="MONDO:equivalentTo", source="Orphanet:363989"}
xref: Orphanet:363989 {source="OMIM:228980", source="MONDO:equivalentTo"}
xref: UMLS:C1856718 {source="MEDGEN:341605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="Orphanet:363989"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9038 {source="MONDO:mim2gene_medgen"} ! PLA2G5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009236
name: Kandori fleck retina
def: "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." [Orphanet:99179]
subset: gard_rare {source="GARD:16900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99179"}
subset: ordo_malformation_syndrome {source="Orphanet:99179"}
subset: orphanet_rare {source="Orphanet:99179"}
subset: rare
synonym: "FLECK retina of KANDORI" RELATED [OMIM:228990]
xref: GARD:16900 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99179/attributed", source="Orphanet:99179/ntbt", source="Orphanet:99179"}
xref: MEDGEN:78764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562701 {source="MONDO:equivalentTo"}
xref: OMIM:228990 {source="Orphanet:99179/e", source="MONDO:equivalentTo", source="Orphanet:99179"}
xref: Orphanet:99179 {source="MONDO:equivalentTo", source="OMIM:228990"}
xref: SCTID:765191009 {source="MONDO:equivalentTo"}
xref: UMLS:C0271257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78764"}
is_a: MONDO:0016420 {source="Orphanet:99179"} ! familial flecked retinopathy

[Term]
id: MONDO:0009237
name: focal epithelial hyperplasia
def: "Hyperplasia characterized by the presence of a focal proliferation of epithelial cells." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "FEH, oral" RELATED [OMIM:229045]
synonym: "focal epithelial hyperplasia, oral" RELATED [OMIM:229045]
synonym: "heck disease" EXACT [DOID:5362, OMIM:229045]
synonym: "heck's disease" EXACT [DOID:5362]
synonym: "multifocal epithelial hyperplasia" EXACT [DOID:5362]
xref: DOID:5362 {source="MONDO:equivalentTo", source="EFO:0007275"}
xref: EFO:0007275 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:528.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:60066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017573 {source="MONDO:equivalentTo", source="DOID:5362", source="EFO:0007275"}
xref: NCIT:C97083 {source="MONDO:equivalentTo", source="DOID:5362"}
xref: OMIM:229045 {source="MONDO:equivalentTo", source="DOID:5362"}
xref: SCTID:36949004 {source="DOID:5362"}
xref: SCTID:6121001 {source="MONDO:equivalentTo", source="DOID:5362"}
xref: UMLS:C0206067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60066"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005043 {source="NCIT:C97083"} ! hyperplasia
is_a: MONDO:0005108 {source="DOID:5362", source="EFO:0007275", source="MONDO:Redundant"} ! viral infectious disease
relationship: disease_has_infectious_agent NCBITaxon:173087 ! Human papillomavirus types

[Term]
id: MONDO:0009238
name: hereditary folate malabsorption
def: "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." [Orphanet:90045]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:12983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90045"}
subset: orphanet_rare {source="Orphanet:90045"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital defect of folate absorption" RELATED [GARD:0012983]
synonym: "congenital folate malabsorption" EXACT [Orphanet:90045]
synonym: "folate malabsorption, hereditary" RELATED [OMIM:229050]
synonym: "folic acid transport defect" RELATED [GARD:0012983]
xref: DOID:0111678 {source="MONDO:equivalentTo"}
xref: GARD:12983 {source="MONDO:GARD"}
xref: ICD10CM:D52.8 {source="Orphanet:90045", source="Orphanet:90045/attributed", source="Orphanet:90045/ntbt"}
xref: MEDGEN:83348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562799 {source="MONDO:equivalentTo"}
xref: NANDO:1200810 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200592 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C156424 {source="MONDO:equivalentTo"}
xref: OMIM:229050 {source="MONDO:equivalentTo", source="Orphanet:90045", source="Orphanet:90045/e"}
xref: Orphanet:90045 {source="MONDO:equivalentTo", source="OMIM:229050"}
xref: SCTID:62578003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342705 {source="MEDGEN:83348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001700 ! megaloblastic anemia
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0017313 {source="Orphanet:90045"} ! disorder of folate metabolism and transport
is_a: MONDO:0020598 {source="https://orcid.org/0000-0002-3458-4839"} ! malabsorption syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30521 {source="MONDO:mim2gene_medgen"} ! SLC46A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption" xsd:anyURI {source="GARD:0012983"}

[Term]
id: MONDO:0009239
name: hypogonadotropic hypogonadism 24 without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52901"}
subset: orphanet_rare {source="Orphanet:52901"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "follicle-stimulating hormone deficiency, isolated" RELATED [OMIM:229070]
synonym: "FSHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229070]
synonym: "hypogonadotropic hypogonadism 24 without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:229070]
synonym: "hypogonadotropic hypogonadism caused by mutation in FSHB" EXACT [MONDO:design_pattern]
synonym: "isolated follicle stimulating hormone deficiency" RELATED [Orphanet:52901]
synonym: "isolated follicle-stimulating hormone (FSH) deficiency" RELATED [GARD:0010128]
synonym: "isolated follicle-stimulating hormone deficiency" EXACT [DOID:0090088]
synonym: "isolated FSH deficiency" EXACT [Orphanet:52901]
xref: DOID:0090088 {source="MONDO:equivalentTo"}
xref: GARD:10128 {source="MONDO:GARD"}
xref: ICD10CM:E23.6 {source="DOID:0090088", source="Orphanet:52901", source="Orphanet:52901/attributed", source="Orphanet:52901/ntbt"}
xref: MEDGEN:1806136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537070 {source="MONDO:equivalentTo", source="Orphanet:52901", source="Orphanet:52901/e"}
xref: OMIM:229070 {source="DOID:0090088", source="MONDO:equivalentTo", source="Orphanet:52901", source="Orphanet:52901/e"}
xref: Orphanet:52901 {source="DOID:0090088", source="MONDO:equivalentTo", source="OMIM:229070"}
xref: SCTID:758664007 {source="MONDO:equivalentTo"}
xref: UMLS:C5574957 {source="MEDGEN:1806136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090088", source="MONDO:Redundant", source="OMIM:229070"} ! hypogonadotropic hypogonadism
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3964 ! FSHB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3964 {source="MONDO:mim2gene_medgen"} ! FSHB

[Term]
id: MONDO:0009240
name: formiminoglutamic aciduria
def: "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." [Orphanet:51208]
subset: gard_rare {source="GARD:9279", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:51208"}
subset: orphanet_rare {source="Orphanet:51208"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arakawa syndrome 1" RELATED [GARD:0009279]
synonym: "Figlu-Uria" RELATED [OMIM:229100]
synonym: "formiminoglutamic acidemia" RELATED [GARD:0009279]
synonym: "formiminoglutamic aciduria" EXACT CLINGEN_LABEL [OMIM:229100]
synonym: "Formiminoglutamicaciduria (FIGLU-Uria)" RELATED [GARD:0009279]
synonym: "formiminotransferase cyclodeaminase deficiency" EXACT [Orphanet:51208]
synonym: "formiminotransferase deficiency" RELATED [OMIM:229100]
synonym: "formiminotransferase deficiency syndrome" RELATED [GARD:0009279]
synonym: "FTCD deficiency" EXACT [Orphanet:51208]
synonym: "glutamate formiminotransferase deficiency" EXACT [OMIM:229100, Orphanet:51208]
xref: DOID:0111679 {source="MONDO:equivalentTo"}
xref: GARD:9279 {source="MONDO:GARD"}
xref: ICD10CM:E70.8 {source="Orphanet:51208/attributed", source="Orphanet:51208/ntbt", source="Orphanet:51208"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537425 {source="MONDO:equivalentTo"}
xref: OMIM:229100 {source="Orphanet:51208/e", source="MONDO:equivalentTo", source="Orphanet:51208"}
xref: Orphanet:51208 {source="MONDO:equivalentTo", source="OMIM:229100"}
xref: SCTID:59761008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82823"}
is_a: MONDO:0001700 ! megaloblastic anemia
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0017313 {source="Orphanet:51208"} ! disorder of folate metabolism and transport
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3974 {source="MONDO:mim2gene_medgen"} ! FTCD

[Term]
id: MONDO:0009241
name: fountain syndrome
def: "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." [Orphanet:3219]
subset: gard_rare {source="GARD:64", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3219"}
subset: ordo_malformation_syndrome {source="Orphanet:3219"}
subset: orphanet_rare {source="Orphanet:3219"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, skeletal dysplasia, lip granuloma" RELATED [GARD:0000064]
synonym: "deafness-skeletal dysplasia-coarse face with full lips syndrome" EXACT [Orphanet:3219]
synonym: "deafness-skeletal dysplasia-lip granuloma syndrome" EXACT [Orphanet:3219]
synonym: "fountain syndrome" EXACT [OMIM:229120]
synonym: "intellectual disability, deafness, skeletal abnormalities, coarse face with full lips" RELATED [GARD:0000064]
synonym: "intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED [OMIM:229120]
synonym: "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED DEPRECATED [OMIM:229120]
xref: GARD:64 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3219", source="Orphanet:3219/attributed", source="Orphanet:3219/ntbt"}
xref: MEDGEN:208650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537270 {source="MONDO:equivalentTo", source="Orphanet:3219", source="Orphanet:3219/e"}
xref: OMIM:229120 {source="MONDO:equivalentTo", source="Orphanet:3219", source="Orphanet:3219/e"}
xref: Orphanet:3219 {source="MONDO:equivalentTo", source="OMIM:229120"}
xref: SCTID:720957007 {source="MONDO:equivalentTo"}
xref: UMLS:C0795944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208650"}
is_a: MONDO:0015159 {source="Orphanet:3219"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3219", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome" xsd:anyURI {source="GARD:0000064"}

[Term]
id: MONDO:0009242
name: brittle cornea syndrome
def: "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." [Orphanet:90354]
subset: gard_rare {source="GARD:1019", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90354"}
subset: orphanet_rare {source="Orphanet:90354"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "BCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229200]
synonym: "brittle cornea syndrome" EXACT []
synonym: "brittle cornea syndrome 1" RELATED [MONDO:Lexical, OMIM:229200]
synonym: "brittle cornea syndrome 2" NARROW [DOID:14775]
synonym: "brittle cornea syndrome type 1" EXACT [MONDORULE:1, OMIM:229200]
synonym: "EDS VIB (formerly)" RELATED [GARD:0001019]
synonym: "Ehlers-Danlos syndrome type 6b" RELATED []
synonym: "Ehlers-Danlos syndrome type 6B (formerly)" RELATED [GARD:0001019]
synonym: "kyphoscoliosis type" EXACT [DOID:14775]
synonym: "type VIB Ehlers-Danlos syndrome" EXACT [DOID:14775]
xref: DOID:14775 {source="MONDO:equivalentTo"}
xref: GARD:1019 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:90354", source="Orphanet:90354/attributed", source="Orphanet:90354/ntbt"}
xref: MESH:C536198 {source="DOID:14775", source="MONDO:directSiblingOf"}
xref: OMIMPS:229200 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:90354 {source="OMIM:229200", source="MONDO:equivalentTo"}
xref: SCTID:25606004 {source="DOID:14775"}
xref: SCTID:719096006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000942 {source="DOID:14775"} ! corneal disorder
is_a: MONDO:0003900 ! connective tissue disorder
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0020066 {source="DOID:14775", source="Orphanet:90354"} ! Ehlers-Danlos syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:90354"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:229200"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome" xsd:anyURI {source="GARD:0001019"}

[Term]
id: MONDO:0009243
name: Fraser-like syndrome
synonym: "Fraser-like syndrome" EXACT [OMIM:229230]
synonym: "Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies" RELATED [OMIM:229230]
xref: MEDGEN:346426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565562 {source="MONDO:equivalentTo"}
xref: OMIM:229230 {source="MONDO:equivalentTo"}
xref: Orphanet:2051 {source="MONDO:equivalentObsolete", source="OMIM:229230"}
xref: UMLS:C1856708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346426"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009244
name: Freesia Flowers, inability to smell
synonym: "Freesia Flowers, inability to smell" EXACT [OMIM:229250]
xref: MEDGEN:383969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:229250 {source="MONDO:equivalentTo"}
xref: UMLS:C1856707 {source="MEDGEN:383969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009245
name: obsolete Friedreich ataxia
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2807" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100339

[Term]
id: MONDO:0009246
name: Friedreich ataxia and congenital glaucoma
synonym: "Friedreich ataxia and congenital glaucoma" EXACT [OMIM:229310]
xref: MEDGEN:344787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538061 {source="MONDO:equivalentTo"}
xref: OMIM:229310 {source="MONDO:equivalentTo"}
xref: UMLS:C1856688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344787"}
is_a: MONDO:0003847 {source="MESH:C538061/inferred"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009247
name: frontofacionasal dysplasia
def: "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." [Orphanet:1791]
subset: gard_rare {source="GARD:2390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1164"}
subset: ordo_disorder {source="Orphanet:1791"}
subset: ordo_malformation_syndrome {source="Orphanet:1791"}
subset: orphanet_rare {source="Orphanet:1791"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ffnd" RELATED [OMIM:229400]
synonym: "fronto-facio-nasal dyplasia" RELATED [GARD:0002390]
synonym: "fronto-facio-nasal dysostosis" RELATED [GARD:0002390]
synonym: "Frontofacionasal dysostosis" RELATED [OMIM:229400]
synonym: "frontofacionasal dysplasia" EXACT [OMIM:229400]
synonym: "Gollop syndrome" EXACT [Orphanet:1791]
xref: GARD:2390 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:1791", source="Orphanet:1791/attributed", source="Orphanet:1791/ntbt"}
xref: MEDGEN:444125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538063 {source="MONDO:equivalentTo"}
xref: NORD:1164 {source="MONDO:NORD"}
xref: OMIM:229400 {source="Orphanet:1791", source="MONDO:equivalentTo", source="Orphanet:1791/e"}
xref: Orphanet:1791 {source="OMIM:229400", source="MONDO:equivalentTo"}
xref: SCTID:716022002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931720 {source="MEDGEN:444125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1791"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016643 {source="Orphanet:1791"} ! frontonasal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia" xsd:anyURI {source="GARD:0002390"}

[Term]
id: MONDO:0009248
name: fructose and galactose intolerance
synonym: "fructose and galactose intolerance" EXACT [OMIM:229500]
xref: MEDGEN:341598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565558 {source="MONDO:equivalentTo"}
xref: OMIM:229500 {source="MONDO:equivalentTo"}
xref: UMLS:C1856686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341598"}
is_a: MONDO:0003847 {source="MESH:C565558/inferred"} ! hereditary disease

[Term]
id: MONDO:0009249
name: hereditary fructose intolerance
def: "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." [Orphanet:469]
subset: gard_rare {source="GARD:6622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1166"}
subset: ordo_disorder {source="Orphanet:469"}
subset: orphanet_rare {source="Orphanet:469"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aldob deficiency" RELATED [OMIM:229600]
synonym: "aldolase B deficiency" RELATED [OMIM:229600]
synonym: "Fructosaemia" EXACT [DOID:9869]
synonym: "fructose intolerance" EXACT [NCIT:C84720]
synonym: "Fructose Intolerance, Hereditary" EXACT [NORD:1166]
synonym: "fructose intolerance, hereditary" EXACT [OMIM:229600]
synonym: "fructose-1,6-bisphosphate aldolase B deficiency" EXACT [DOID:9869, OMIM:229600]
synonym: "fructose-1-phosphate aldolase deficiency" RELATED [OMIM:229600]
synonym: "fructosemia" EXACT [DOID:9869, OMIM:229600]
synonym: "hereditary fructose intolerance" EXACT CLINGEN_LABEL []
synonym: "hereditary fructose intolerance syndrome" EXACT [MONDO:0004906]
synonym: "hereditary fructose-1-phosphate aldolase deficiency" EXACT [Orphanet:469]
synonym: "hereditary fructosemia" EXACT [Orphanet:469]
xref: DOID:9869 {source="MONDO:equivalentTo"}
xref: GARD:6622 {source="MONDO:GARD"}
xref: ICD10CM:E74.1 {source="Orphanet:469/inclusion", source="Orphanet:469", source="Orphanet:469/ntbt"}
xref: ICD10CM:E74.12 {source="DOID:9869", source="MONDO:equivalentTo"}
xref: icd11.foundation:1925240365 {source="Orphanet:469", source="MONDO:equivalentTo"}
xref: ICD9:271.2 {source="DOID:9869"}
xref: MedDRA:10019878 {source="Orphanet:469", source="Orphanet:469/e"}
xref: MEDGEN:42105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005633 {source="Orphanet:469", source="DOID:9869", source="Orphanet:469/e"}
xref: NANDO:2200531 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84720 {source="DOID:9869", source="MONDO:equivalentTo"}
xref: NORD:1166 {source="MONDO:NORD"}
xref: OMIM:229600 {source="Orphanet:469", source="MONDO:equivalentTo", source="Orphanet:469/e"}
xref: Orphanet:469 {source="OMIM:229600", source="MONDO:equivalentTo"}
xref: SCTID:20052008 {source="DOID:9869", source="MONDO:equivalentTo"}
xref: SCTID:20290005 {source="DOID:9869"}
xref: SCTID:237962008 {source="DOID:9869"}
xref: UMLS:C0016751 {source="MEDGEN:42105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="Orphanet:469"} ! metabolic disease
is_a: MONDO:0017689 {source="Orphanet:469"} ! disorder of fructose metabolism
is_a: MONDO:0019052 {source="DOID:9869/inferred", source="MONDO:Redundant", source="NCIT:C84720", source="Orphanet:469/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019214 {source="DOID:9869", source="MONDO:Redundant", source="Orphanet:469/inferred"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism
relationship: excluded_subClassOf MONDO:0015178 {source="Orphanet:469", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital intestinal transport defect
relationship: excluded_subClassOf MONDO:0017706 {source="Orphanet:469", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of carbohydrate transmembrane transport and absorption
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:469", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_characteristic MONDO:0021152 {source="Orphanet:469"} ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/417 {source="MONDO:mim2gene_medgen"} ! ALDOB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009250
name: obsolete fructose utilization
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "fructose utilization" EXACT [OMIM:229650]
xref: OMIM:229650 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0009251
name: fructose-1,6-bisphosphatase deficiency
def: "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants." [Orphanet:348]
subset: gard_rare {source="GARD:2400", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:348"}
subset: orphanet_rare {source="Orphanet:348"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "baker-Winegrad disease" RELATED [GARD:0002400]
synonym: "FBP1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229700]
synonym: "fructose 1 phosphate aldolase deficiency" EXACT [DOID:5204]
synonym: "fructose 1,6 diphosphatase deficiency" RELATED [GARD:0002400]
synonym: "fructose-1,6-bisphosphatase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:229700]
synonym: "fructose-1,6-diphosphatase deficiency" EXACT [DOID:5204]
xref: DOID:5204 {source="MONDO:equivalentTo"}
xref: GARD:2400 {source="MONDO:GARD"}
xref: ICD10CM:E74.1 {source="Orphanet:348", source="Orphanet:348/attributed", source="Orphanet:348/ntbt"}
xref: ICD10CM:E74.19 {source="DOID:5204"}
xref: MEDGEN:42106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015319 {source="DOID:5204"}
xref: NANDO:2200535 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C128119 {source="MONDO:equivalentTo"}
xref: OMIM:229700 {source="Orphanet:348", source="DOID:5204", source="MONDO:equivalentTo", source="Orphanet:348/e"}
xref: Orphanet:348 {source="OMIM:229700", source="MONDO:equivalentTo"}
xref: SCTID:28183005 {source="DOID:5204", source="MONDO:equivalentTo"}
xref: UMLS:C0016756 {source="MEDGEN:42106", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="DOID:5204/inferred", source="MONDO:Redundant", source="NCIT:C128119", source="Orphanet:348/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019225 {source="Orphanet:348", source="PMID:33340416"} ! disorder of gluconeogenesis
relationship: disease_has_feature HP:0001942 ! Metabolic acidosis
relationship: disease_has_feature HP:0001943 ! Hypoglycemia
relationship: excluded_subClassOf MONDO:0017689 {source="Orphanet:348", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fructose metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3606 {source="MONDO:mim2gene_medgen"} ! FBP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009252
name: essential fructosuria
def: "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated." [Orphanet:2056]
subset: gard_rare {source="GARD:6471", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2056"}
subset: orphanet_rare {source="Orphanet:2056"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fructokinase deficiency" EXACT [Orphanet:2056]
synonym: "fructosuria, essential" EXACT [OMIM:229800, OMIM:genemap2]
synonym: "hepatic fructokinase deficiency" RELATED [OMIM:229800]
synonym: "ketohexokinase deficiency" EXACT [OMIM:229800, Orphanet:2056]
xref: DOID:0111680 {source="MONDO:equivalentTo"}
xref: GARD:6471 {source="MONDO:GARD"}
xref: ICD10CM:E74.1 {source="Orphanet:2056", source="Orphanet:2056/attributed", source="Orphanet:2056/ntbt"}
xref: ICD10CM:E74.11 {source="MONDO:equivalentTo"}
xref: MedDRA:10015487 {source="Orphanet:2056", source="Orphanet:2056/e"}
xref: MEDGEN:78645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538068 {source="Orphanet:2056", source="MONDO:equivalentTo", source="Orphanet:2056/e"}
xref: OMIM:229800 {source="Orphanet:2056", source="MONDO:equivalentTo", source="Orphanet:2056/e"}
xref: Orphanet:2056 {source="MONDO:equivalentTo", source="OMIM:229800"}
xref: SCTID:40278002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78645"}
is_a: MONDO:0017689 {source="Orphanet:2056"} ! disorder of fructose metabolism
is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6315 {source="MONDO:mim2gene_medgen"} ! KHK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009253
name: Fryns syndrome
def: "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." [Orphanet:2059]
subset: gard_rare {source="GARD:3699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1167"}
subset: ordo_disorder {source="Orphanet:2059"}
subset: ordo_malformation_syndrome {source="Orphanet:2059"}
subset: orphanet_rare {source="Orphanet:2059"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diaphragmatic hernia, abnormal face, and distal limb anomalies" RELATED [OMIM:229850]
synonym: "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome" EXACT [Orphanet:2059]
synonym: "FRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229850]
synonym: "Fryns syndrome" EXACT [MONDO:Lexical, OMIM:229850]
synonym: "Moerman Van den Berghe Fryns syndrome" RELATED [GARD:0003699]
xref: GARD:3699 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2059/attributed", source="Orphanet:2059/ntbt", source="Orphanet:2059"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:65088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538070 {source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e"}
xref: NCIT:C98932 {source="MONDO:equivalentTo"}
xref: NORD:1167 {source="MONDO:NORD"}
xref: OMIM:229850 {source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e"}
xref: Orphanet:2059 {source="OMIM:229850", source="MONDO:equivalentTo"}
xref: SCTID:702432006 {source="MONDO:equivalentTo"}
xref: UMLS:C0220730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65088"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98932"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2059"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2059", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome" xsd:anyURI {source="GARD:0003699"}

[Term]
id: MONDO:0009254
name: fucosidosis
def: "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." [Orphanet:349]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6473", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1168"}
subset: ordo_disorder {source="Orphanet:349"}
subset: orphanet_rare {source="Orphanet:349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "A-fucosidase deficiency" EXACT [DOID:14500]
synonym: "alpha fucosidase deficiency" EXACT [DOID:14500]
synonym: "Alpha-L-fucosidase deficiency" EXACT [OMIM:230000, Orphanet:349]
synonym: "fucosidosis" EXACT [OMIM:230000]
synonym: "lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues" RELATED [GARD:0006473]
xref: DOID:14500 {source="MONDO:equivalentTo"}
xref: GARD:6473 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:349/inclusion", source="Orphanet:349/ntbt", source="Orphanet:349", source="DOID:14500"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005645 {source="Orphanet:349", source="MONDO:equivalentTo", source="Orphanet:349/e", source="DOID:14500"}
xref: NANDO:1200130 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200553 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61274 {source="MONDO:equivalentTo", source="DOID:14500"}
xref: NORD:1168 {source="MONDO:NORD"}
xref: OMIM:230000 {source="Orphanet:349", source="MONDO:equivalentTo", source="Orphanet:349/e", source="DOID:14500"}
xref: Orphanet:349 {source="MONDO:equivalentTo", source="OMIM:230000"}
xref: SCTID:190937009 {source="DOID:14500"}
xref: SCTID:64716005 {source="MONDO:equivalentTo", source="DOID:14500"}
xref: UMLS:C0016788 {source="MEDGEN:5288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="DOID:14500", source="MESH:D005645/inferred", source="MONDO:Redundant", source="NCIT:C61274", source="Orphanet:349/inferred"} ! lysosomal storage disease
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019251 {source="Orphanet:349"} ! oligosaccharidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4006 {source="MONDO:mim2gene_medgen"} ! FUCA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6473/fucosidosis" xsd:anyURI {source="GARD:0006473"}

[Term]
id: MONDO:0009255
name: galactokinase deficiency
def: "Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." [Orphanet:79237]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2422", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79237"}
subset: orphanet_rare {source="Orphanet:79237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "galactokinase deficiency" EXACT CLINGEN_LABEL [OMIM:230200]
synonym: "galactokinase deficiency galactosemia" EXACT [Orphanet:79237]
synonym: "galactokinase deficiency with cataracts" EXACT [OMIM:230200, OMIM:genemap2]
synonym: "galactosemia 2" RELATED [OMIM:230200]
synonym: "galactosemia II" EXACT [DOID:14695]
synonym: "galactosemia type 2" EXACT [Orphanet:79237]
synonym: "GALK deficiency" EXACT [Orphanet:79237]
synonym: "Galk deficiency" RELATED [OMIM:230200]
synonym: "GALK-D" EXACT [Orphanet:79237]
synonym: "hereditary galactokinase deficiency" RELATED [GARD:0002422]
xref: DOID:14695 {source="MONDO:equivalentTo"}
xref: GARD:2422 {source="MONDO:GARD"}
xref: ICD10CM:E74.2 {source="Orphanet:79237", source="Orphanet:79237/attributed", source="Orphanet:79237/ntbt"}
xref: ICD10CM:E74.29 {source="DOID:14695"}
xref: icd11.foundation:1173858031 {source="Orphanet:79237", source="MONDO:equivalentTo"}
xref: MEDGEN:120614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535999 {source="Orphanet:79237", source="Orphanet:79237/e"}
xref: MESH:D005693 {source="DOID:14695"}
xref: NANDO:2200533 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C114767 {source="MONDO:equivalentTo", source="DOID:14695"}
xref: OMIM:230200 {source="Orphanet:79237", source="MONDO:equivalentTo", source="Orphanet:79237/e", source="DOID:14695"}
xref: Orphanet:352 {source="OMIM:230200"}
xref: Orphanet:79237 {source="MONDO:equivalentTo", source="OMIM:230200"}
xref: SCTID:124302001 {source="MONDO:equivalentTo", source="DOID:14695"}
xref: SCTID:18612007 {source="DOID:14695"}
xref: UMLS:C0268155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120614"}
is_a: MONDO:0018116 {source="DOID:14695", source="NCIT:C114767", source="Orphanet:79237"} ! galactosemia
is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4118 {source="MONDO:mim2gene_medgen"} ! GALK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency" xsd:anyURI {source="GARD:0002422"}

[Term]
id: MONDO:0009256
name: galactorrhea
def: "Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia." [MESH:D005687]
synonym: "galactorrhea" EXACT [MONDO:ambiguous, OMIM:230300]
synonym: "galactorrhea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0100829 {source="MONDO:otherHierarchy"}
xref: ICD9:611.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:777088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005687 {source="MONDO:equivalentTo"}
xref: NCIT:C113343 {source="MONDO:equivalentTo"}
xref: OMIM:230300 {source="MONDO:equivalentTo"}
xref: SCTID:78622004 {source="MONDO:equivalentTo"}
xref: UMLS:C3665358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777088"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "galactorrhea (disease)" xsd:string

[Term]
id: MONDO:0009257
name: galactose epimerase deficiency
def: "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism." [Orphanet:79238]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79238"}
subset: orphanet_rare {source="Orphanet:79238"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epimerase deficiency galactosemia" EXACT [Orphanet:79238]
synonym: "galactose epimerase deficiency" EXACT [OMIM:230350]
synonym: "galactosemia 3" RELATED [OMIM:230350]
synonym: "galactosemia type 3" EXACT [Orphanet:79238]
synonym: "GALE deficiency" EXACT [Orphanet:79238]
synonym: "Gale deficiency" RELATED [OMIM:230350]
synonym: "GALE-D" EXACT [Orphanet:79238]
synonym: "UDP-galactose-4-epimerase deficiency" EXACT [OMIM:230350, Orphanet:79238]
synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:79238]
xref: DOID:0111458 {source="MONDO:equivalentTo"}
xref: GARD:5392 {source="MONDO:GARD"}
xref: ICD10CM:E74.2 {source="Orphanet:79238", source="Orphanet:79238/attributed", source="Orphanet:79238/ntbt"}
xref: MEDGEN:199598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200534 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:230350 {source="Orphanet:79238", source="MONDO:equivalentTo", source="Orphanet:79238/e"}
xref: Orphanet:352 {source="OMIM:230350"}
xref: Orphanet:79238 {source="MONDO:equivalentTo", source="OMIM:230350"}
xref: SCTID:8849004 {source="MONDO:equivalentTo"}
xref: UMLS:C0751161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199598"}
is_a: MONDO:0005066 {source="Orphanet:79238", source="Orphanet:79238/inferred"} ! metabolic disease
is_a: MONDO:0018116 {source="Orphanet:79238"} ! galactosemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4116 {source="MONDO:mim2gene_medgen"} ! GALE
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency" xsd:anyURI {source="GARD:0005392"}

[Term]
id: MONDO:0009258
name: classic galactosemia
def: "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." [Orphanet:79239]
subset: gard_rare {source="GARD:13639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79239"}
subset: orphanet_rare {source="Orphanet:79239"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic galactosemia" EXACT CLINGEN_LABEL []
synonym: "classical galactosemia, homozygous duarte-type" NARROW []
synonym: "galactose-1-phosphate uridyltransferase deficiency" EXACT [Orphanet:79239]
synonym: "galactose-1-phosphate uridylyltransferase deficiency" RELATED [OMIM:230400]
synonym: "galactosemia" RELATED [OMIM:230400]
synonym: "galactosemia type 1" EXACT [Orphanet:79239]
synonym: "galactosemia, classic" RELATED [OMIM:230400]
synonym: "galactosemia, Duarte variant" RELATED [OMIM:230400]
synonym: "GALT deficiency" EXACT [Orphanet:79239]
synonym: "Galt deficiency" RELATED [OMIM:230400]
synonym: "transferase deficiency" RELATED [https://orcid.org/0000-0002-9731-6356]
xref: DOID:0111459 {source="MONDO:equivalentTo"}
xref: GARD:13639 {source="MONDO:GARD"}
xref: ICD10CM:E74.2 {source="Orphanet:79239/attributed", source="Orphanet:79239/ntbt", source="Orphanet:79239"}
xref: icd11.foundation:2011000259 {source="Orphanet:79239", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:82777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200851 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200532 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:230400 {source="Orphanet:79239", source="MONDO:equivalentTo", source="Orphanet:79239/e"}
xref: Orphanet:352 {source="OMIM:230400"}
xref: Orphanet:79239 {source="MONDO:equivalentTo", source="OMIM:230400"}
xref: SCTID:10899004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268151 {source="MONDO:equivalentTo", source="MEDGEN:82777", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="Orphanet:79239", source="Orphanet:79239/inferred"} ! metabolic disease
is_a: MONDO:0018116 {source="Orphanet:79239"} ! galactosemia
is_a: MONDO:0019852 {source="Orphanet:79239"} ! inherited primary ovarian failure
is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4135 {source="MONDO:mim2gene_medgen"} ! GALT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5834" xsd:anyURI

[Term]
id: MONDO:0009259
name: gamma-glutamylcysteine synthetase deficiency
def: "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." [Orphanet:33574]
subset: gard_rare {source="GARD:16631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33574"}
subset: orphanet_rare {source="Orphanet:33574"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to" EXACT OMO:0003005 []
synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" EXACT [OMIM:230450]
synonym: "glutamate-cysteine ligase deficiency" EXACT [Orphanet:33574]
synonym: "hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency" EXACT OMO:0003005 []
synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT [OMIM:230450, OMIM:genemap2]
synonym: "inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glutamate-cysteine ligase activity disorder" EXACT [Orphanet:33574]
synonym: "rare inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0111681 {source="MONDO:equivalentTo"}
xref: GARD:16631 {source="MONDO:GARD"}
xref: ICD10CM:D55.1 {source="Orphanet:33574/attributed", source="Orphanet:33574/ntbt", source="Orphanet:33574"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:347272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565557 {source="MONDO:equivalentTo"}
xref: OMIM:230450 {source="Orphanet:33574/e", source="MONDO:equivalentTo", source="Orphanet:33574"}
xref: Orphanet:33574 {source="MONDO:equivalentTo", source="OMIM:230450"}
xref: SCTID:36799008 {source="MONDO:equivalentTo"}
xref: UMLS:C1856603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347272"}
is_a: MONDO:0040566 {source="Orphanet:33574", source="PMID:33340416"} ! inherited glutathione metabolism disease
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0004357 ! glutamate-cysteine ligase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4311 {source="MONDO:mim2gene_medgen"} ! GCLC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009260
name: GM1 gangliosidosis type 1
alt_id: MONDO:0023211
def: "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." [Orphanet:79255]
subset: gard_rare {source="GARD:6479", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79255"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta galactosidase deficiency type 1" RELATED [GARD:0006479]
synonym: "Beta-galactosidase-1 deficiency" RELATED [OMIM:230500]
synonym: "gangliosidosis generalised GM1 infantile form" RELATED OMO:0003005 []
synonym: "gangliosidosis generalised GM1 type 1" RELATED OMO:0003005 []
synonym: "gangliosidosis generalized GM1 infantile form" RELATED [GARD:0006479]
synonym: "gangliosidosis generalized GM1 type 1" RELATED [GARD:0006479]
synonym: "gangliosidosis, generalised GM1, infantile form" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalised GM1, type 1" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalised GM1, type I, with Cardiac involvement" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalized GM1, infantile form" RELATED [OMIM:230500]
synonym: "gangliosidosis, generalized GM1, type 1" RELATED [OMIM:230500]
synonym: "gangliosidosis, generalized GM1, type I, with Cardiac involvement" RELATED [OMIM:230500]
synonym: "GLB deficiency type 1" RELATED [GARD:0006479]
synonym: "Glb1 deficiency" RELATED [OMIM:230500]
synonym: "GM1-gangliosidosis, type 1" RELATED [OMIM:230500]
synonym: "GM1-gangliosidosis, type I" RELATED [OMIM:230500]
synonym: "GM1-gangliosidosis, type I, with Cardiac involvement" RELATED [OMIM:230500]
synonym: "infantile GM1 gangliosidosis" EXACT [Orphanet:79255]
synonym: "Norman-Landing disease" EXACT [Orphanet:79255]
xref: DOID:0080502 {source="MONDO:equivalentTo"}
xref: GARD:6479 {source="MONDO:GARD"}
xref: ICD10CM:E75.1 {source="Orphanet:79255/attributed", source="Orphanet:79255/ntbt", source="Orphanet:79255"}
xref: MEDGEN:75665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200067 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201196 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:230500 {source="GARD:0006479", source="Orphanet:79255/e", source="MONDO:equivalentTo", source="Orphanet:79255"}
xref: Orphanet:354 {source="OMIM:230500"}
xref: Orphanet:79255 {source="GARD:0006479", source="MONDO:equivalentTo", source="OMIM:230500"}
xref: SCTID:238026007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268271 {source="MEDGEN:75665", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0018149 {source="DC-OMIM:230500", source="Orphanet:79255"} ! GM1 gangliosidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1" xsd:anyURI {source="GARD:0006479"}

[Term]
id: MONDO:0009261
name: GM1 gangliosidosis type 2
def: "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age." [Orphanet:79256]
subset: gard_rare {source="GARD:10126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79256"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gangliosidosis generalised GM1 juvenile type" RELATED OMO:0003005 []
synonym: "gangliosidosis generalised GM1 type 2" RELATED OMO:0003005 []
synonym: "gangliosidosis generalized GM1 juvenile type" RELATED [GARD:0010126]
synonym: "gangliosidosis generalized GM1 type 2" RELATED [GARD:0010126]
synonym: "gangliosidosis, generalised GM1, juvenile type" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalised GM1, late-infantile type" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalised GM1, type 2" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalized GM1, juvenile type" RELATED [OMIM:230600]
synonym: "gangliosidosis, generalized GM1, late-infantile type" RELATED [OMIM:230600]
synonym: "gangliosidosis, generalized GM1, type 2" RELATED [OMIM:230600]
synonym: "GM1-gangliosidosis, type 2" RELATED [OMIM:230600]
synonym: "GM1-gangliosidosis, type II" RELATED [OMIM:230600]
synonym: "juvenile GM1 gangliosidosis" EXACT [Orphanet:79256]
synonym: "late-infantile GM1 gangliosidosis" EXACT [Orphanet:79256]
xref: DOID:0080501 {source="MONDO:equivalentTo"}
xref: GARD:10126 {source="MONDO:GARD"}
xref: ICD10CM:E75.1 {source="Orphanet:79256/attributed", source="Orphanet:79256/ntbt", source="Orphanet:79256"}
xref: MEDGEN:120625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200068 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201197 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:230600 {source="Orphanet:79256/e", source="MONDO:equivalentTo", source="Orphanet:79256"}
xref: Orphanet:354 {source="OMIM:230600"}
xref: Orphanet:79256 {source="MONDO:equivalentTo", source="OMIM:230600"}
xref: SCTID:18756002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120625"}
is_a: MONDO:0018149 {source="DC-OMIM:230600", source="Orphanet:79256"} ! GM1 gangliosidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2" xsd:anyURI {source="GARD:0010126"}

[Term]
id: MONDO:0009262
name: GM1 gangliosidosis type 3
def: "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." [Orphanet:79257]
subset: gard_rare {source="GARD:2431", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79257"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult GM1 gangliosidosis" RELATED [GARD:0002431]
synonym: "adult-onset GM1 gangliosidosis" EXACT [Orphanet:79257]
synonym: "Beta-galactosidase deficiency type 3" RELATED [GARD:0002431]
synonym: "gangliosidosis generalised GM1 chronic type" RELATED OMO:0003005 []
synonym: "gangliosidosis generalized GM1 chronic type" RELATED [GARD:0002431]
synonym: "gangliosidosis GM1 type 3" RELATED [GARD:0002431]
synonym: "gangliosidosis, generalised GM1, adult type" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalised GM1, chronic type" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalised GM1, type 3" RELATED OMO:0003005 []
synonym: "gangliosidosis, generalized GM1, adult type" RELATED [OMIM:230650]
synonym: "gangliosidosis, generalized GM1, chronic type" RELATED [OMIM:230650]
synonym: "gangliosidosis, generalized GM1, type 3" RELATED [OMIM:230650]
synonym: "GM1-gangliosidosis, type 3" RELATED [OMIM:230650]
synonym: "GM1-gangliosidosis, type III" RELATED [OMIM:230650]
xref: DOID:0080489 {source="MONDO:equivalentTo"}
xref: GARD:2431 {source="MONDO:GARD"}
xref: ICD10CM:E75.1 {source="Orphanet:79257/attributed", source="Orphanet:79257/ntbt", source="Orphanet:79257"}
xref: MEDGEN:78655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200069 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201198 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:230650 {source="Orphanet:79257/e", source="MONDO:equivalentTo", source="Orphanet:79257"}
xref: Orphanet:354 {source="OMIM:230650"}
xref: Orphanet:79257 {source="MONDO:equivalentTo", source="OMIM:230650"}
xref: SCTID:238027003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78655"}
is_a: MONDO:0018149 {source="DC-OMIM:230650", source="Orphanet:79257"} ! GM1 gangliosidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3" xsd:anyURI {source="GARD:0002431"}

[Term]
id: MONDO:0009263
name: GAPO syndrome
def: "A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations" [Orphanet:2067]
subset: gard_rare {source="GARD:400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2067"}
subset: ordo_malformation_syndrome {source="Orphanet:2067"}
subset: orphanet_rare {source="Orphanet:2067"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gapo syndrome" EXACT [OMIM:230740]
synonym: "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [Orphanet:2067]
synonym: "Growth retardation, alopecia, pseudoanodontia and optic atrophy" RELATED [GARD:0000400]
synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" RELATED [OMIM:230740]
xref: DOID:0112249 {source="MONDO:equivalentTo"}
xref: GARD:400 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2067", source="Orphanet:2067/attributed", source="Orphanet:2067/ntbt"}
xref: MEDGEN:98034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535642 {source="MONDO:equivalentTo"}
xref: OMIM:230740 {source="Orphanet:2067", source="MONDO:equivalentTo", source="Orphanet:2067/e"}
xref: Orphanet:2067 {source="MONDO:equivalentTo", source="OMIM:230740"}
xref: SCTID:721843003 {source="MONDO:equivalentTo"}
xref: UMLS:C0406723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98034"}
is_a: MONDO:0015159 {source="Orphanet:2067"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019287 {source="Orphanet:2067"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2067", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21014 {source="MONDO:mim2gene_medgen"} ! ANTXR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome" xsd:anyURI {source="GARD:0000400"}

[Term]
id: MONDO:0009264
name: gastroschisis
def: "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." [Orphanet:2368]
subset: gard_rare {source="GARD:8661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1176"}
subset: ordo_disorder {source="Orphanet:2368"}
subset: ordo_morphological_anomaly {source="Orphanet:2368"}
subset: orphanet_rare {source="Orphanet:2368"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abdominal wall defects" RELATED [OMIM:230750]
synonym: "congenital fissure of the abdominal cavity" RELATED [GARD:0008661]
synonym: "eventration" BROAD [NCIT:C84725]
synonym: "gastroschisis" EXACT [OMIM:230750]
synonym: "laparoschisis" EXACT [Orphanet:2368]
xref: DOID:11044 {source="EFO:1000949", source="MONDO:equivalentTo"}
xref: EFO:1000949 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8661 {source="MONDO:GARD"}
xref: ICD10CM:Q79.3 {source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"}
xref: icd11.foundation:551758329 {source="Orphanet:2368", source="MONDO:equivalentTo"}
xref: ICD9:756.73 {source="EFO:1000949", source="DOID:11044"}
xref: MedDRA:10018046 {source="EFO:1000949", source="Orphanet:2368", source="Orphanet:2368/e"}
xref: MEDGEN:82721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020139 {source="EFO:1000949", source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"}
xref: NCIT:C84725 {source="EFO:1000949", source="MONDO:equivalentTo", source="DOID:11044"}
xref: NORD:1176 {source="MONDO:NORD"}
xref: OMIM:230750 {source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"}
xref: Orphanet:2368 {source="MONDO:equivalentTo", source="OMIM:230750"}
xref: SCTID:72951007 {source="EFO:1000949", source="MONDO:equivalentTo", source="DOID:11044"}
xref: UMLS:C0265706 {source="MEDGEN:82721", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100298 {source="https://orcid.org/0000-0001-5208-3432"} ! abdominal wall malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8661/gastroschisis" xsd:anyURI {source="GARD:0008661"}

[Term]
id: MONDO:0009265
name: Gaucher disease type I
def: "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." [Orphanet:77259]
subset: gard_rare {source="GARD:2441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:77259"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acid Beta-glucosidase deficiency" EXACT [DOID:0110957]
synonym: "Gaucher disease type 1" RELATED [Orphanet:77259]
synonym: "Gaucher disease type I" EXACT CLINGEN_LABEL []
synonym: "Gaucher disease, noncerebral juvenile" EXACT [DOID:0110957, OMIM:230800]
synonym: "Gaucher disease, type 1" RELATED [OMIM:230800]
synonym: "Gaucher disease, type I" RELATED [OMIM:230800]
synonym: "Gaucher's disease type I" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gba deficiency" EXACT [DOID:0110957, OMIM:230800]
synonym: "Gd 1" RELATED [OMIM:230800]
synonym: "GD I" EXACT [DOID:0110957]
synonym: "glucocerebrosidase deficiency" RELATED EXCLUDE [DOID:0110957]
synonym: "non-cerebral juvenile Gaucher disease" EXACT [Orphanet:77259]
xref: DOID:0110957 {source="MONDO:equivalentTo"}
xref: GARD:2441 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:77259/attributed", source="Orphanet:77259/ntbt", source="Orphanet:77259", source="DOID:0110957"}
xref: MEDGEN:409531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200057 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201210 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:230800 {source="Orphanet:77259", source="MONDO:equivalentTo", source="DOID:0110957", source="Orphanet:77259/e"}
xref: Orphanet:355 {source="OMIM:230800"}
xref: Orphanet:77259 {source="OMIM:230800", source="MONDO:equivalentTo", source="DOID:0110957"}
xref: UMLS:C1961835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409531"}
is_a: MONDO:0016340 ! familial restrictive cardiomyopathy
is_a: MONDO:0018150 {source="DC-OMIM:230800", source="DOID:0110957", source="Orphanet:77259"} ! Gaucher disease
is_a: MONDO:0018374 {source="MONDO:0018377-obsoleted"} ! secondary avascular necrosis
is_a: MONDO:0020143 {source="Orphanet:77259"} ! cerebral lipidosis with dementia
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1

[Term]
id: MONDO:0009266
name: Gaucher disease type II
def: "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." [Orphanet:77260]
subset: gard_rare {source="GARD:2442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:77260"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute neuronopathic Gaucher disease" EXACT [Orphanet:77260]
synonym: "Gaucher disease type 2" RELATED [Orphanet:77260]
synonym: "Gaucher disease type II" EXACT CLINGEN_LABEL []
synonym: "Gaucher disease, acute neuronopathic type" EXACT [DOID:0110958, OMIM:230900]
synonym: "Gaucher disease, infantile cerebral" RELATED [GARD:0002442]
synonym: "Gaucher disease, type 2" RELATED [OMIM:230900]
synonym: "Gaucher disease, type II" RELATED [OMIM:230900]
synonym: "Gaucher's disease type II" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gd 2" RELATED [OMIM:230900]
synonym: "GD II" EXACT [DOID:0110958]
synonym: "infantile cerebral Gaucher disease" EXACT [DOID:0110958, Orphanet:77260]
xref: DOID:0110958 {source="MONDO:equivalentTo"}
xref: GARD:2442 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="DOID:0110958", source="Orphanet:77260", source="Orphanet:77260/attributed", source="Orphanet:77260/ntbt"}
xref: MEDGEN:78652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200058 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201211 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:230900 {source="DOID:0110958", source="MONDO:equivalentTo", source="Orphanet:77260", source="Orphanet:77260/e"}
xref: Orphanet:355 {source="OMIM:230900"}
xref: Orphanet:77260 {source="OMIM:230900", source="DOID:0110958", source="MONDO:equivalentTo"}
xref: SCTID:12246008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78652"}
is_a: MONDO:0018150 {source="DC-OMIM:230900", source="DOID:0110958", source="Orphanet:77260"} ! Gaucher disease
relationship: disease_has_basis_in_disruption_of GO:0004565 {source="PMID:21723623"} ! beta-galactosidase activity
relationship: excluded_subClassOf MONDO:0002561 {source="DOID:0110958/inferred", source="Orphanet:77260/inferred", source="PMID:21723623", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal storage disease
relationship: excluded_subClassOf MONDO:0017014 {source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease specific to childhood
relationship: excluded_subClassOf MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! sphingolipidosis
relationship: excluded_subClassOf MONDO:0020143 {source="Orphanet:77260", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral lipidosis with dementia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1

[Term]
id: MONDO:0009267
name: Gaucher disease type III
def: "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." [Orphanet:77261]
subset: gard_rare {source="GARD:2443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:77261"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral juvenile and adult form of Gaucher disease" EXACT [Orphanet:77261]
synonym: "chronic neuronopathic Gaucher disease" EXACT [Orphanet:77261]
synonym: "Gaucher disease type 3" RELATED [Orphanet:77261]
synonym: "Gaucher disease type III" EXACT CLINGEN_LABEL []
synonym: "Gaucher disease, chronic neuronopathic type" EXACT [DOID:0110959]
synonym: "Gaucher disease, juvenile and adult, cerebral" EXACT [DOID:0110959, OMIM:231000]
synonym: "Gaucher disease, Norrbottnian type" RELATED [OMIM:231000]
synonym: "Gaucher disease, Subacute neuronopathic type" EXACT [DOID:0110959, OMIM:231000]
synonym: "Gaucher disease, subacute neuronopathic type" EXACT [Orphanet:77261]
synonym: "Gaucher disease, type 3" RELATED [OMIM:231000]
synonym: "Gaucher disease, type 3A" RELATED [OMIM:231000]
synonym: "Gaucher disease, type 3B" RELATED [OMIM:231000]
synonym: "Gaucher disease, type III" RELATED [OMIM:231000]
synonym: "Gaucher's disease type III" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gd 3" RELATED [OMIM:231000]
synonym: "GD III" EXACT [DOID:0110959]
xref: DOID:0110959 {source="MONDO:equivalentTo"}
xref: GARD:2443 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:77261", source="DOID:0110959", source="Orphanet:77261/attributed", source="Orphanet:77261/ntbt"}
xref: MEDGEN:78653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200059 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201212 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:231000 {source="MONDO:equivalentTo", source="Orphanet:77261", source="DOID:0110959", source="Orphanet:77261/e"}
xref: Orphanet:355 {source="OMIM:231000"}
xref: Orphanet:77261 {source="MONDO:equivalentTo", source="OMIM:231000", source="DOID:0110959"}
xref: SCTID:5963005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78653"}
is_a: MONDO:0018150 {source="DC-OMIM:231000", source="DOID:0110959", source="Orphanet:77261"} ! Gaucher disease
relationship: disease_has_basis_in_disruption_of GO:0004565 {source="PMID:21723623"} ! beta-galactosidase activity
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: excluded_subClassOf MONDO:0002561 {source="DOID:0110959/inferred", source="Orphanet:77261/inferred", source="PMID:21723623", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal storage disease
relationship: excluded_subClassOf MONDO:0016340 {source="https://orcid.org/0000-0001-5208-3432"} ! familial restrictive cardiomyopathy
relationship: excluded_subClassOf MONDO:0017014 {source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease specific to childhood
relationship: excluded_subClassOf MONDO:0018374 {source="MONDO:0018377-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! secondary avascular necrosis
relationship: excluded_subClassOf MONDO:0018384 {source="MONDO:0018377-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete avascular necrosis of genetic origin
relationship: excluded_subClassOf MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! sphingolipidosis
relationship: excluded_subClassOf MONDO:0020143 {source="Orphanet:77261", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral lipidosis with dementia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1

[Term]
id: MONDO:0009268
name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
def: "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." [Orphanet:2072]
subset: gard_rare {source="GARD:12504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2072"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiovascular Gaucher disease" EXACT [Orphanet:2072]
synonym: "Gaucher disease - ophthalmoplegia - cardiovascular calcification" RELATED [GARD:0012504]
synonym: "Gaucher disease type 3C" EXACT [Orphanet:2072]
synonym: "Gaucher disease, type 3C" RELATED [OMIM:231005]
synonym: "Gaucher disease, type IIIC" RELATED [OMIM:231005]
synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT CLINGEN_LABEL []
synonym: "Gaucher-like disease" EXACT [Orphanet:2072]
synonym: "pseudo Gaucher disease" RELATED [GARD:0002445]
xref: DOID:0112250 {source="MONDO:equivalentTo"}
xref: GARD:12504 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:2072", source="Orphanet:2072/attributed", source="Orphanet:2072/ntbt"}
xref: MEDGEN:341563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565553 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:231005 {source="Orphanet:2072/e", source="GARD:0002445", source="MONDO:equivalentTo", source="Orphanet:2072"}
xref: Orphanet:2072 {source="MONDO:equivalentTo", source="OMIM:231005"}
xref: Orphanet:355 {source="OMIM:231005"}
xref: UMLS:C1856476 {source="MEDGEN:341563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018150 {source="Orphanet:2072"} ! Gaucher disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1

[Term]
id: MONDO:0009269
name: geleophysic dysplasia 1
def: "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:15172", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADAMTSL2 geleophysic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GELEOPHYSIC dysplasia 1" RELATED [OMIM:231050]
synonym: "geleophysic dysplasia 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:231050]
synonym: "geleophysic dysplasia caused by mutation in ADAMTSL2" EXACT [MONDO:design_pattern]
synonym: "Geleophysic dysplasia type 1" EXACT [MONDORULE:1, OMIM:231050]
synonym: "GPHYSD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231050]
xref: DOID:0111725 {source="MONDO:equivalentTo"}
xref: GARD:15172 {source="MONDO:GARD"}
xref: MEDGEN:479777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:231050 {source="MONDO:equivalentTo"}
xref: Orphanet:2623 {source="OMIM:231050"}
xref: UMLS:C3278147 {source="MONDO:equivalentTo", source="MEDGEN:479777", source="MONDO:MEDGEN"}
is_a: MONDO:0000127 {source="DC-OMIM:231050", source="MONDO:Redundant", source="OMIM:231050"} ! geleophysic dysplasia
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
intersection_of: MONDO:0000127 ! geleophysic dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14631 ! ADAMTSL2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14631 {source="MONDO:mim2gene_medgen"} ! ADAMTSL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009270
name: genito-palato-cardiac syndrome
def: "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." [Orphanet:2075]
subset: gard_rare {source="GARD:2460", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2075"}
subset: ordo_malformation_syndrome {source="Orphanet:2075"}
subset: orphanet_rare {source="Orphanet:2075"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gardner-Silengo-Wachtel syndrome" EXACT [OMIM:231060, Orphanet:2075]
synonym: "genito palato cardiac syndrome" RELATED [GARD:0002460]
synonym: "GENITOPALATOCARDIAC syndrome" RELATED [OMIM:231060]
synonym: "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect" RELATED [OMIM:231060]
xref: GARD:2460 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2075/attributed", source="Orphanet:2075/ntbt", source="Orphanet:2075"}
xref: MEDGEN:341558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537683 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"}
xref: OMIM:231060 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"}
xref: Orphanet:2075 {source="OMIM:231060", source="MONDO:equivalentTo"}
xref: UMLS:C1856466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341558"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0015161 {source="Orphanet:2075"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome" xsd:anyURI {source="GARD:0002460"}

[Term]
id: MONDO:0009271
name: geroderma osteodysplastica
def: "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." [Orphanet:2078]
subset: gard_rare {source="GARD:413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2078"}
subset: ordo_malformation_syndrome {source="Orphanet:2078"}
subset: orphanet_rare {source="Orphanet:2078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "geroderma osteodysplastica" EXACT CLINGEN_LABEL []
synonym: "GERODERMA OSTEODYSPLASTICUM" RELATED [MONDO:Lexical, OMIM:231070]
synonym: "Geroderma osteodysplasticum" RELATED [GARD:0000413]
synonym: "Gerodermia osteodysplastica" RELATED [OMIM:231070]
synonym: "GO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231070]
synonym: "Walt Disney dwarfism" RELATED [OMIM:231070]
xref: DOID:0111266 {source="MONDO:equivalentTo"}
xref: GARD:413 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2078", source="Orphanet:2078/attributed", source="Orphanet:2078/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537799 {source="Orphanet:2078", source="MONDO:equivalentTo", source="Orphanet:2078/e"}
xref: OMIM:231070 {source="Orphanet:2078", source="MONDO:equivalentTo", source="Orphanet:2078/e"}
xref: Orphanet:2078 {source="OMIM:231070", source="MONDO:equivalentTo"}
xref: SCTID:254116003 {source="MONDO:equivalentTo"}
xref: UMLS:C0432255 {source="MEDGEN:98149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100237 {source="Orphanet:2078"} ! inherited cutis laxa
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: disease_has_feature HP:0004349 {source="Orphanet:2078"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2078", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25676 {source="MONDO:mim2gene_medgen"} ! GORAB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica" xsd:anyURI {source="GARD:0000413"}

[Term]
id: MONDO:0009272
name: German syndrome
def: "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." [Orphanet:2077]
subset: gard_rare {source="GARD:2462", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2077"}
subset: ordo_malformation_syndrome {source="Orphanet:2077"}
subset: orphanet_rare {source="Orphanet:2077"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "German syndrome" EXACT [OMIM:231080]
xref: GARD:2462 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2077", source="Orphanet:2077/attributed", source="Orphanet:2077/ntbt"}
xref: MEDGEN:854357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562543 {source="MONDO:equivalentTo"}
xref: OMIM:231080 {source="Orphanet:2077", source="MONDO:equivalentTo", source="Orphanet:2077/e"}
xref: Orphanet:2077 {source="MONDO:equivalentTo", source="OMIM:231080"}
xref: SCTID:733037000 {source="MONDO:equivalentTo"}
xref: UMLS:C3887495 {source="MEDGEN:854357", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0016009 ! fetal trimethadione syndrome
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009273
name: hydatidiform mole, recurrent, 1
def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18365", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete hydatidiform mole caused by mutation in NLRP7" EXACT [MONDO:design_pattern]
synonym: "gestational trophoblastic disease" RELATED [OMIM:231090]
synonym: "hydatidiform mole" RELATED [OMIM:231090]
synonym: "hydatidiform Mole, complete" RELATED [OMIM:231090]
synonym: "hydatidiform MOLE, recurrent, 1" RELATED [OMIM:231090]
synonym: "hydatidiform mole, recurrent, 1" EXACT [MONDO:Lexical, OMIM:231090]
synonym: "hydatidiform Mole, recurrent, type 1" EXACT [MONDORULE:1, OMIM:231090]
synonym: "HYDM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231090]
synonym: "NLRP7 complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18365 {source="MONDO:GARD"}
xref: MEDGEN:483038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:231090 {source="MONDO:equivalentTo"}
xref: Orphanet:254688 {source="OMIM:231090"}
xref: Orphanet:99927 {source="OMIM:231090"}
xref: UMLS:C3463897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483038"}
is_a: MONDO:0016785 {source="MONDO:Redundant", source="Orphanet:254688/btnt"} ! complete hydatidiform mole
is_a: MONDO:0018944 {source="DC-OMIM:231090"} ! gestational trophoblastic neoplasm
intersection_of: MONDO:0016785 ! complete hydatidiform mole
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22947 ! NLRP7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22947 {source="MONDO:mim2gene_medgen"} ! NLRP7

[Term]
id: MONDO:0009274
name: ghosal hematodiaphyseal dysplasia
def: "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia." [Orphanet:1802]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10297", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1802"}
subset: ordo_malformation_syndrome {source="Orphanet:1802"}
subset: orphanet_rare {source="Orphanet:1802"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [Orphanet:1802]
synonym: "GHDD" RELATED ABBREVIATION [GARD:0010297, MONDO:Lexical, OMIM:231095]
synonym: "GHOSAL hematodiaphyseal dysplasia" RELATED [OMIM:231095]
synonym: "ghosal hematodiaphyseal dysplasia" EXACT [GARD:0010297, MONDO:Lexical, OMIM:231095]
synonym: "Ghosal hematodiaphyseal dysplasia syndrome" RELATED [GARD:0010297]
synonym: "Ghosal hematodiaphyseal syndrome" EXACT [OMIM:231095, OMIM:genemap2]
synonym: "Ghosal syndrome" EXACT [GARD:0010297, OMIM:231095, Orphanet:1802]
xref: DOID:0112251 {source="MONDO:equivalentTo"}
xref: GARD:10297 {source="MONDO:GARD"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:344739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565551 {source="MONDO:equivalentTo"}
xref: OMIM:231095 {source="Orphanet:1802/e", source="GARD:0010297", source="MONDO:equivalentTo", source="Orphanet:1802"}
xref: Orphanet:1802 {source="OMIM:231095", source="GARD:0010297", source="MONDO:equivalentTo"}
xref: SCTID:389214003 {source="MONDO:equivalentTo"}
xref: UMLS:C1856465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344739"}
is_a: MONDO:0005381 {source="Orphanet:1802"} ! bone disorder
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:1802"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:1802", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11609 {source="MONDO:mim2gene_medgen"} ! TBXAS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia-syndrome" xsd:anyURI {source="GARD:0010297"}

[Term]
id: MONDO:0009275
name: neonatal hemochromatosis
def: "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4" [https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis]
subset: gard_rare {source="GARD:7172", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1494"}
subset: ordo_disorder {source="Orphanet:446"}
subset: orphanet_rare {source="Orphanet:446"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alloimmune Hepatitis, congenital" RELATED [OMIM:231100]
synonym: "giant cell Hepatitis" RELATED [OMIM:231100]
synonym: "giant cell Hepatitis (formerly)" RELATED [GARD:0007172]
synonym: "giant cell Hepatitis, formerly" RELATED [OMIM:231100]
synonym: "hemochromatosis neonatal" RELATED [GARD:0007172]
synonym: "hemochromatosis, neonatal" RELATED [OMIM:231100]
synonym: "idiopathic neonatal hemochromatosis" RELATED [GARD:0007172]
synonym: "neonatal Hepatitis" RELATED [OMIM:231100]
synonym: "neonatal hepatitis (formerly)" RELATED [GARD:0007172]
synonym: "neonatal Hepatitis, formerly" RELATED [OMIM:231100]
synonym: "Nh" RELATED [OMIM:231100]
synonym: "Nhc" RELATED [OMIM:231100]
xref: GARD:7172 {source="MONDO:GARD"}
xref: ICD10CM:E83.1 {source="Orphanet:446/attributed", source="Orphanet:446/ntbt", source="Orphanet:446"}
xref: MEDGEN:82768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536394 {source="Orphanet:446", source="MONDO:equivalentTo", source="Orphanet:446/e"}
xref: NCIT:C129980 {source="MONDO:equivalentTo"}
xref: NORD:1494 {source="MONDO:NORD"}
xref: OMIM:231100 {source="Orphanet:446", source="MONDO:equivalentTo", source="Orphanet:446/e"}
xref: Orphanet:446 {source="MONDO:equivalentTo", source="OMIM:231100"}
xref: UMLS:C0268059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82768"}
is_a: MONDO:0001436 {source="MONDO:Redundant", source="NCIT:C129980"} ! hemosiderosis
is_a: MONDO:0005066 {source="MONDO:Redundant", source="Orphanet:446"} ! metabolic disease
is_a: MONDO:0006507 {source="DC-OMIM:231100", source="MESH:C536394", source="MONDO:Redundant"} ! hereditary hemochromatosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis" xsd:anyURI {source="GARD:0007172"}

[Term]
id: MONDO:0009276
name: Bernard-Soulier syndrome
def: "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination." [Orphanet:274]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2470", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:851"}
subset: ordo_disorder {source="Orphanet:274"}
subset: orphanet_rare {source="Orphanet:274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bernard - Soulier thrombopathy" EXACT [DOID:2217]
synonym: "Bernard Soulier syndrome" EXACT [DOID:2217]
synonym: "Bernard-Soulier syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:231200]
synonym: "Bernard-Soulier syndrome, type A1" RELATED [OMIM:231200]
synonym: "Bernard-Soulier syndrome, type A1 (recessive)" EXACT [OMIM:231200, OMIM:genemap2]
synonym: "Bernard-Soulier syndrome, type B" RELATED [OMIM:231200]
synonym: "Bernard-Soulier syndrome, type C" RELATED [OMIM:231200]
synonym: "bleeding disorder, Platelet-type, 1" RELATED [OMIM:231200]
synonym: "BSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231200]
synonym: "deficiency of platelet glycoprotein 1b" RELATED [GARD:0002470]
synonym: "giant platelet disease" RELATED [GARD:0002470]
synonym: "giant platelet disorder, isolated" EXACT [OMIM:231200, OMIM:genemap2]
synonym: "giant platelet syndrome" EXACT [Orphanet:274]
synonym: "glycoprotein Ib, Platelet, deficiency of" RELATED [OMIM:231200]
synonym: "hemorrhagic dystrophic thrombocytopenia" EXACT [DOID:2217]
synonym: "Hemorrhagiparous thrombocytic dystrophy" EXACT [Orphanet:274]
synonym: "macrothrombocytopenia, familial Bernard-Soulier type" RELATED [GARD:0002470]
synonym: "Platelet glycoprotein 1b, deficiency of" RELATED [GARD:0002470]
synonym: "Platelet glycoprotein Ib deficiency" RELATED [OMIM:231200]
synonym: "thrombopathy, Bernard-Soulier" EXACT [DOID:2217]
synonym: "Von Willebrand Factor receptor deficiency" RELATED [OMIM:231200]
xref: DOID:2217 {source="MONDO:equivalentTo"}
xref: GARD:2470 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:274/inclusion", source="Orphanet:274", source="Orphanet:274/ntbt"}
xref: MedDRA:10057473 {source="Orphanet:274/e", source="Orphanet:274"}
xref: MEDGEN:2212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001606 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="DOID:2217", source="Orphanet:274"}
xref: NANDO:2200656 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84595 {source="MONDO:equivalentTo", source="DOID:2217"}
xref: NORD:851 {source="MONDO:NORD"}
xref: OMIM:231200 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="DOID:2217", source="Orphanet:274"}
xref: Orphanet:274 {source="MONDO:equivalentTo", source="DOID:2217", source="OMIM:231200"}
xref: SCTID:191309003 {source="DOID:2217"}
xref: SCTID:234478007 {source="MONDO:equivalentTo", source="DOID:2217"}
xref: SCTID:54569005 {source="DOID:2217"}
xref: UMLS:C0005129 {source="MONDO:equivalentTo", source="MEDGEN:2212", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="DC-OMIM:231200", source="MONDO:Redundant", source="OMIM:231200"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0002254 {source="NCIT:C84595"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009277
name: glaucoma 3A
def: "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1." [NCIT:C148260]
subset: gard_rare {source="GARD:18224", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98976"}
subset: orphanet_rare {source="Orphanet:98976"}
subset: rare
synonym: "buphthalmos" BROAD [DOID:11211, OMIM:231300]
synonym: "glaucoma 3, primary congenital, A" RELATED [MONDO:Lexical, OMIM:231300]
synonym: "glaucoma 3, primary congenital, type a" EXACT [MONDORULE:1, OMIM:231300]
synonym: "glaucoma 3A, primary open angle, congenital, juvenile, or adult onset" EXACT [OMIM:231300, OMIM:genemap2]
synonym: "glaucoma, congenital" RELATED [OMIM:231300]
synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:231300]
synonym: "glaucoma, primary open angle, juvenile-onset" RELATED [OMIM:231300]
synonym: "GLC3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231300]
synonym: "Primary Congenital glaucoma 3A" EXACT [NCIT:C148260]
synonym: "simple buphthalmos" EXACT [DOID:11211]
xref: DOID:11211 {source="MONDO:equivalentTo"}
xref: GARD:18224 {source="MONDO:GARD"}
xref: icd11.foundation:517092878 {source="Orphanet:98976", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:743.21 {source="DOID:11211"}
xref: MEDGEN:383912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C148260 {source="MONDO:equivalentTo"}
xref: OMIM:231300 {source="MONDO:equivalentTo", source="DOID:11211"}
xref: Orphanet:98976 {source="MONDO:equivalentTo", source="OMIM:231300"}
xref: Orphanet:98977 {source="MONDO:relatedTo", source="OMIM:231300"}
xref: SCTID:13832009 {source="DOID:11211"}
xref: SCTID:204116009 {source="DOID:11211"}
xref: SCTID:268157004 {source="DOID:11211"}
xref: UMLS:C1856439 {source="MEDGEN:383912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020366 {source="NCIT:C148260/inferred"} ! congenital glaucoma
is_a: MONDO:0800472 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! CYP1B1-related glaucoma with or without anterior segment dysgenesis
relationship: excluded_subClassOf MONDO:0006788 {source="DOID:11211", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hydrophthalmos
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2597 {source="MONDO:mim2gene_medgen"} ! CYP1B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6783" xsd:anyURI

[Term]
id: MONDO:0009278
name: obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
subset: clingen {source="MONDO:CLINGEN"}
synonym: "SCHAD deficiency, formerly" RELATED [OMIM:231530]
xref: NANDO:2200516 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3977" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0012382

[Term]
id: MONDO:0009279
name: triple-A syndrome
def: "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." [Orphanet:869]
subset: gard_rare {source="GARD:457", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:869"}
subset: orphanet_rare {source="Orphanet:869"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2A syndrome" EXACT [Orphanet:869]
synonym: "3A syndrome" EXACT [Orphanet:869]
synonym: "4A syndrome" EXACT [Orphanet:869]
synonym: "AAA" RELATED ABBREVIATION [GARD:0000457]
synonym: "AAA syndrome" EXACT [Orphanet:869]
synonym: "AAAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231550]
synonym: "achalasia addisonianism alacrimia syndrome" RELATED [GARD:0000457]
synonym: "achalasia alacrima syndrome" RELATED [GARD:0000457]
synonym: "achalasia-addisonianism-alacrima syndrome" EXACT [MONDO:Lexical, OMIM:231550, Orphanet:869]
synonym: "achalasia-addisonianism-alacrimia syndrome" EXACT [DOID:0050602]
synonym: "achalasia-alacrima syndrome" RELATED [OMIM:231550]
synonym: "ACTH-resistant adrenal insufficiency, achalasia and alacrima" RELATED [OMIM:231550]
synonym: "Addisonian achalasia syndrome" RELATED [GARD:0000457]
synonym: "Addisonian-achalasia syndrome" RELATED [OMIM:231550]
synonym: "adrenal insufficiency-achalasia-alacrima syndrome" EXACT [Orphanet:869]
synonym: "alacrima-achalasia-addisonianism" RELATED [OMIM:231550]
synonym: "alacrima-achalasia-adrenal insufficiency neurologic disorder" RELATED [OMIM:231550]
synonym: "Allgrove syndrome" EXACT [DOID:0050602, OMIM:231550, Orphanet:869]
synonym: "Double A syndrome" EXACT [Orphanet:869]
synonym: "glucocorticoid deficiency and achalasia" RELATED [OMIM:231550]
synonym: "hypoadrenalism with achalasia" RELATED [OMIM:231550]
synonym: "quaternary A syndrome" EXACT [Orphanet:869]
synonym: "triple A syndrome" RELATED [GARD:0000457]
synonym: "triple-a syndrome" EXACT [OMIM:231550]
xref: DOID:0050602 {source="MONDO:equivalentTo"}
xref: GARD:457 {source="MONDO:GARD"}
xref: ICD10CM:E27.4 {source="Orphanet:869", source="Orphanet:869/attributed", source="Orphanet:869/ntbt"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536008 {source="MONDO:equivalentTo", source="Orphanet:869", source="Orphanet:869/e"}
xref: MESH:C536009 {source="Orphanet:869", source="Orphanet:869/e"}
xref: NANDO:1200410 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131005 {source="MONDO:equivalentObsolete"}
xref: OMIM:231550 {source="MONDO:equivalentTo", source="Orphanet:869", source="DOID:0050602", source="Orphanet:869/e"}
xref: Orphanet:869 {source="MONDO:equivalentTo", source="OMIM:231550"}
xref: Orphanet:99777 {source="OMIM:231550"}
xref: SCTID:45414006 {source="MONDO:equivalentTo"}
xref: UMLS:C0271742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82889"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131005"} ! syndromic disease
is_a: MONDO:0005495 {source="EFO:1001997/inferred", source="MONDO:Entailed", source="Orphanet:869", source="Orphanet:869/inferred"} ! adrenal gland disorder
is_a: MONDO:0006025 {source="DOID:0050602", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015129 {source="Orphanet:869", source="Orphanet:869/inferred"} ! chronic primary adrenal insufficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:231550", source="Orphanet:869"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13666 {source="MONDO:mim2gene_medgen"} ! AAAS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome" xsd:anyURI {source="GARD:0000457"}

[Term]
id: MONDO:0009280
name: monosodium glutamate sensitivity
synonym: "Chinese restaurant syndrome" RELATED [OMIM:231630]
synonym: "monosodium glutamate sensitivity" EXACT [OMIM:231630]
xref: ICD9:989.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562377 {source="MONDO:equivalentTo"}
xref: OMIM:231630 {source="MONDO:equivalentTo"}
xref: SCTID:56344009 {source="MONDO:equivalentTo"}
xref: UMLS:C0008127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:891"}
is_a: MONDO:0003847 {source="MESH:C562377/inferred"} ! hereditary disease

[Term]
id: MONDO:0009281
name: glutaryl-CoA dehydrogenase deficiency
def: "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." [Orphanet:25]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:25"}
subset: orphanet_rare {source="Orphanet:25"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ga 1" RELATED [OMIM:231670]
synonym: "GA1" EXACT ABBREVIATION [Orphanet:25]
synonym: "GCDHD" EXACT ABBREVIATION [Orphanet:25]
synonym: "glutaric acidemia 1" RELATED [GARD:0006522, OMIM:231670]
synonym: "glutaric acidemia I" RELATED [OMIM:231670]
synonym: "glutaric acidemia type 1" EXACT [MONDORULE:1, OMIM:231670, Orphanet:25]
synonym: "glutaric acidemia type I" RELATED [GARD:0006522]
synonym: "glutaric acidemia, type 1" RELATED []
synonym: "glutaric aciduria 1" RELATED [OMIM:231670]
synonym: "glutaric aciduria type 1" EXACT [Orphanet:25]
synonym: "glutaric aciduria type I" RELATED []
synonym: "glutaric aciduria, type 1" EXACT [NCIT:C99101]
synonym: "glutaricaciduria, type I" EXACT [OMIM:231670, OMIM:genemap2]
synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [OMIM:231670]
synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:25]
xref: DOID:0111254 {source="MONDO:equivalentTo"}
xref: GARD:6522 {source="MONDO:GARD"}
xref: ICD10CM:E72.3 {source="Orphanet:25/ntbt", source="MONDO:relatedTo", source="Orphanet:25/inclusion", source="Orphanet:25"}
xref: MEDGEN:124337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536833 {source="Orphanet:25", source="MONDO:equivalentTo", source="Orphanet:25/e"}
xref: NANDO:1200800 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200501 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99101 {source="MONDO:equivalentTo"}
xref: OMIM:231670 {source="Orphanet:25", source="MONDO:equivalentTo", source="Orphanet:25/e"}
xref: Orphanet:25 {source="MONDO:equivalentTo", source="OMIM:231670"}
xref: SCTID:76175005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124337"}
is_a: MONDO:0000129 {source="DC-OMIM:231670"} ! glutaric aciduria
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4189 {source="MONDO:mim2gene_medgen"} ! GCDH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0009282
name: multiple acyl-CoA dehydrogenase deficiency
def: "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." [https://doi.org/10.1016/B978-0-323-40139-5.00087-5, https://github.com/monarch-initiative/mondo/issues/1569, Orphanet:26791]
comment: Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). {source="OMIM:231680"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1192"}
subset: ordo_disorder {source="Orphanet:26791"}
subset: orphanet_rare {source="Orphanet:26791"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "electron transfer flavoprotein deficiency" EXACT [DOID:0060358]
synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [DOID:0060358]
synonym: "EMA" RELATED ABBREVIATION [GARD:0006523]
synonym: "Etfa deficiency" NARROW [OMIM:231680]
synonym: "Etfb deficiency" NARROW [OMIM:231680]
synonym: "Etfdh deficiency" NARROW [OMIM:231680]
synonym: "ethylmalonic-Adipicaciduria" RELATED [OMIM:231680]
synonym: "Ga 2" RELATED [OMIM:231680]
synonym: "glutaric acidemia 2" RELATED [OMIM:231680]
synonym: "glutaric acidemia 2A" NARROW [OMIM:231680]
synonym: "glutaric acidemia 2B" NARROW [OMIM:231680]
synonym: "glutaric acidemia 2C" NARROW [OMIM:231680]
synonym: "glutaric acidemia IIA" NARROW [OMIM:231680, OMIM:genemap2]
synonym: "glutaric acidemia IIB" NARROW [OMIM:231680, OMIM:genemap2]
synonym: "glutaric acidemia IIC" NARROW [OMIM:231680, OMIM:genemap2]
synonym: "glutaric acidemia type 2" EXACT [DOID:0060358, Orphanet:26791]
synonym: "glutaric acidemia type II" EXACT [GARD:0006523, https://orcid.org/0000-0001-6330-7526, OMIM:231680]
synonym: "glutaric aciduria 2" RELATED [OMIM:231680]
synonym: "glutaric aciduria type 2" EXACT [DOID:0060358, Orphanet:26791]
synonym: "Glutaric Aciduria Type II" EXACT [NORD:1192]
synonym: "glutaric aciduria, type 2" EXACT [NCIT:C84907]
synonym: "MAD deficiency" EXACT [DOID:0060358, Orphanet:26791]
synonym: "MADD" EXACT ABBREVIATION [DOID:0060358, MONDO:Lexical, OMIM:231680, Orphanet:26791]
synonym: "multiple acyl Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84907]
synonym: "multiple acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:231680]
xref: DOID:0060358 {source="MONDO:equivalentTo"}
xref: GARD:6523 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:26791", source="Orphanet:26791/attributed", source="Orphanet:26791/ntbt"}
xref: ICD10CM:E71.313 {source="DOID:0060358"}
xref: MEDGEN:75696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054069 {source="DOID:0060358"}
xref: NANDO:1200801 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200502 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84907 {source="DOID:0060358", source="MONDO:equivalentTo"}
xref: NCIT:C99102 {source="DOID:0060358", source="MONDO:otherHierarchy"}
xref: NORD:1192 {source="MONDO:NORD"}
xref: OMIM:231680 {source="DOID:0060358", source="MONDO:equivalentTo", source="Orphanet:26791", source="Orphanet:26791/e"}
xref: Orphanet:26791 {source="OMIM:231680", source="DOID:0060358", source="MONDO:equivalentTo"}
xref: SCTID:22886006 {source="DOID:0060358"}
xref: UMLS:C0268596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75696"}
is_a: MONDO:0000129 {source="DC-OMIM:231680"} ! glutaric aciduria
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/1569"} ! hereditary disease
is_a: MONDO:0004069 {source="https://github.com/monarch-initiative/mondo/issues/1569"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis
is_a: MONDO:0017714 {source="Orphanet:26791"} ! acyl-CoA dehydrogenase deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4691" xsd:anyURI

[Term]
id: MONDO:0009283
name: glutaric acidemia type 3
def: "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." [Orphanet:35706]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12469", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35706"}
subset: orphanet_rare {source="Orphanet:35706"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ga 3" RELATED [OMIM:231690]
synonym: "GA III" RELATED [GARD:0012469]
synonym: "GA3" RELATED ABBREVIATION [OMIM:231690]
synonym: "glutaric acidemia type 3" EXACT CLINGEN_LABEL []
synonym: "glutaric acidemia type III" RELATED [GARD:0012469]
synonym: "glutaric aciduria (disease) caused by mutation in SUGCT" EXACT []
synonym: "glutaric aciduria 3" RELATED [OMIM:231690]
synonym: "glutaric aciduria III" RELATED [OMIM:231690]
synonym: "glutaric aciduria type 3" EXACT [MONDORULE:1, OMIM:231690, Orphanet:35706]
synonym: "glutaric aciduria type III" RELATED [GARD:0012469]
synonym: "glutaryl-CoA oxidase deficiency" EXACT [Orphanet:35706]
synonym: "glutaryl-Coa oxidase deficiency" RELATED [OMIM:231690]
synonym: "SUGCT glutaric aciduria (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0112246 {source="MONDO:equivalentTo"}
xref: GARD:12469 {source="MONDO:GARD"}
xref: ICD10CM:E72.3 {source="MONDO:relatedTo", source="Orphanet:35706", source="Orphanet:35706/attributed", source="Orphanet:35706/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562818 {source="MONDO:equivalentTo"}
xref: OMIM:231690 {source="MONDO:equivalentTo", source="Orphanet:35706", source="Orphanet:35706/e"}
xref: Orphanet:35706 {source="OMIM:231690", source="MONDO:equivalentTo"}
xref: SCTID:238070003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87464"}
is_a: MONDO:0000129 {source="DC-OMIM:231690", source="MONDO:Redundant"} ! glutaric aciduria
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
intersection_of: MONDO:0000129 ! glutaric aciduria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16001 ! SUGCT
relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:35706", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16001 {source="MONDO:mim2gene_medgen"} ! SUGCT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii" xsd:anyURI {source="GARD:0012469"}

[Term]
id: MONDO:0009284
name: glutathione synthetase deficiency without 5-oxoprolinuria
subset: gard_rare {source="GARD:17331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:289849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to" RELATED OMO:0003005 []
synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" RELATED [MONDO:Lexical, OMIM:231900]
synonym: "GSSDE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231900]
synonym: "hemolytic anaemia due to glutathione synthetase deficiency" EXACT OMO:0003005 []
synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [OMIM:231900, OMIM:genemap2]
xref: DOID:0112252 {source="MONDO:equivalentTo"}
xref: GARD:17331 {source="MONDO:GARD"}
xref: ICD10CM:D55.1 {source="Orphanet:289849/attributed", source="Orphanet:289849/ntbt", source="Orphanet:289849"}
xref: MEDGEN:343541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565545 {source="MONDO:equivalentTo"}
xref: OMIM:231900 {source="Orphanet:289849/e", source="MONDO:equivalentTo", source="Orphanet:289849"}
xref: Orphanet:289849 {source="OMIM:231900", source="MONDO:equivalentTo"}
xref: Orphanet:32 {source="OMIM:231900"}
xref: UMLS:C1856399 {source="MEDGEN:343541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017909 {source="Orphanet:289849"} ! inherited glutathione synthetase deficiency
is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4624 {source="MONDO:mim2gene_medgen"} ! GSS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009285
name: gamma-glutamyl transpeptidase deficiency
def: "Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine." [Orphanet:33573]
subset: gard_rare {source="GARD:10099", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33573"}
subset: orphanet_rare {source="Orphanet:33573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gamma-glutamyltransferase deficiency" RELATED [OMIM:231950]
synonym: "gamma-glutamyltranspeptidase deficiency" RELATED [OMIM:231950]
synonym: "GGT deficiency" RELATED [OMIM:231950]
synonym: "GGT1 deficiency" RELATED [GARD:0010099]
synonym: "glutathioninuria" EXACT [OMIM:231950, OMIM:genemap2]
synonym: "glutathionuria" EXACT [OMIM:231950, Orphanet:33573]
synonym: "GTG deficiency" RELATED [OMIM:231950]
synonym: "inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glutathione hydrolase activity disorder" EXACT []
synonym: "rare inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0111257 {source="MONDO:equivalentTo"}
xref: GARD:10099 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:33573/attributed", source="Orphanet:33573/ntbt", source="Orphanet:33573"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536836 {source="MONDO:equivalentTo"}
xref: OMIM:231950 {source="Orphanet:33573/e", source="MONDO:equivalentTo", source="Orphanet:33573"}
xref: Orphanet:33573 {source="MONDO:equivalentTo", source="OMIM:231950"}
xref: SCTID:78586005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82813"}
is_a: MONDO:0019241 {source="Orphanet:33573"} ! inborn disorder of the gamma-glutamyl cycle
is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0036374 ! glutathione hydrolase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4250 {source="MONDO:mim2gene_medgen"} ! GGT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009286
name: gluteal muscles, absence of
synonym: "absence of gluteal muscle" RELATED [GARD:0008518]
synonym: "congenital absence of gluteal muscles" RELATED [GARD:0008518]
synonym: "gluteal muscle, absence of" RELATED [GARD:0008518]
synonym: "gluteal muscles, absence of" EXACT [OMIM:231970]
xref: MEDGEN:383902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535561 {source="MONDO:equivalentTo"}
xref: OMIM:231970 {source="GARD:0008518", source="MONDO:equivalentTo"}
xref: UMLS:C1856398 {source="MEDGEN:383902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8518/absence-of-gluteal-muscle" xsd:anyURI {source="GARD:0008518"}

[Term]
id: MONDO:0009287
name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA
def: "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." [Orphanet:79258]
subset: gard_rare {source="GARD:7864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79258"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "G6P deficiency type 1a" EXACT [Orphanet:79258]
synonym: "G6PC glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glucose-6-phosphatase deficiency" RELATED [OMIM:232200]
synonym: "glucose-6-phosphatase deficiency glycogen storage disease" RELATED [GARD:0007864]
synonym: "glycogen storage disease 1" RELATED [OMIM:232200]
synonym: "glycogen storage disease 1A" RELATED [GARD:0007864]
synonym: "glycogen storage disease caused by mutation in G6PC" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to G6P deficiency type Ia" EXACT [Orphanet:79258]
synonym: "glycogen storage disease Ia" RELATED [MONDO:Lexical, OMIM:232200]
synonym: "glycogen storage disease type 1a" EXACT [Orphanet:79258]
synonym: "glycogen storage disease type Ia" EXACT [MONDORULE:5, OMIM:232200]
synonym: "glycogenosis due to glucose-6-phosphatase deficiency type 1a" EXACT [Orphanet:79258]
synonym: "glycogenosis due to glucose-6-phosphatase deficiency type Ia" EXACT [Orphanet:79258]
synonym: "glycogenosis type Ia" EXACT [Orphanet:79258]
synonym: "GSD due to G6P deficiency type 1a" EXACT [Orphanet:79258]
synonym: "GSD due to G6P deficiency type Ia" EXACT [Orphanet:79258]
synonym: "GSD Ia" RELATED [OMIM:232200]
synonym: "GSD type 1a" EXACT [Orphanet:79258]
synonym: "GSD1" RELATED ABBREVIATION [GARD:0007864]
synonym: "GSD1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232200]
synonym: "GSDIa" EXACT [Orphanet:79258]
synonym: "hepatorenal form of glycogen storage disease" RELATED [OMIM:232200]
synonym: "hepatorenal glycogenosis" RELATED [OMIM:232200]
synonym: "Von Gierke disease" RELATED [OMIM:232200]
xref: DOID:2749 {source="MONDO:equivalentTo"}
xref: GARD:7864 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:79258/attributed", source="Orphanet:79258/ntbt", source="Orphanet:79258"}
xref: MEDGEN:415885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538655 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:2201153 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:232200 {source="Orphanet:79258/e", source="MONDO:equivalentTo", source="Orphanet:79258"}
xref: Orphanet:364 {source="OMIM:232200"}
xref: Orphanet:79258 {source="MONDO:equivalentTo", source="OMIM:232200"}
xref: SCTID:444707001 {source="MONDO:equivalentTo"}
xref: UMLS:C2919796 {source="MEDGEN:415885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0002413 {source="Orphanet:79258"} ! glycogen storage disease I
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4056 ! G6PC1
relationship: disease_has_basis_in_disruption_of GO:0004346 ! glucose-6-phosphatase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4056 {source="MONDO:mim2gene_medgen"} ! G6PC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009288
name: glycogen storage disease Ib
def: "A type of glycogenosis due to G6P deficiency." [Orphanet:79259]
comment: Type Ic was merged with Ib because they involve the same gene.
subset: gard_rare {source="GARD:2515", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79259"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "G6P deficiency type IB" EXACT [Orphanet:79259]
synonym: "G6P translocase deficiency" EXACT [Orphanet:79259]
synonym: "G6PT deficiency" EXACT [Orphanet:79259]
synonym: "glucose-6-phosphate transport defect" EXACT [OMIM:232220]
synonym: "glycogen storage disease due to G6P deficiency type IB" EXACT [Orphanet:79259]
synonym: "glycogen storage disease Ib" EXACT [MONDO:Lexical, OMIM:232220]
synonym: "glycogen storage disease Ic" EXACT [OMIM:232240]
synonym: "glycogen storage disease type 1b" EXACT [Orphanet:79259]
synonym: "glycogen storage disease type I non-a" EXACT [NCIT:C122661]
synonym: "glycogen storage disease type IB" EXACT [MONDORULE:5, OMIM:232220, Orphanet:79259]
synonym: "glycogen storage disease type Ic" EXACT [MONDORULE:5, OMIM:232240]
synonym: "glycogenosis due to glucose-6-phosphatase deficiency type 1B" EXACT [Orphanet:79259]
synonym: "glycogenosis due to glucose-6-phosphatase transport defect type IB" EXACT [Orphanet:79259]
synonym: "glycogenosis type 1b" EXACT [Orphanet:79259]
synonym: "glycogenosis type IB" EXACT [Orphanet:79259]
synonym: "GSD due to G6P deficiency type IB" EXACT [Orphanet:79259]
synonym: "GSD due to G6PT deficiency" EXACT [Orphanet:79259]
synonym: "GSD Ib" EXACT [OMIM:232220]
synonym: "GSD Ic" RELATED [OMIM:232240]
synonym: "GSD type 1 non a" EXACT [Orphanet:79259]
synonym: "GSD type 1b" EXACT [Orphanet:79259]
synonym: "GSD type IB" EXACT [Orphanet:79259]
synonym: "GSD1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:232220]
synonym: "GSD1C" RELATED ABBREVIATION [OMIM:232240]
synonym: "Gsd1C" RELATED [OMIM:232240]
synonym: "GSDIb" EXACT [Orphanet:79259]
xref: DOID:0081330 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0081331 {source="MONDO:equivalentTo"}
xref: GARD:2515 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:79259", source="Orphanet:79259/attributed", source="Orphanet:79259/ntbt"}
xref: MEDGEN:78644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562594 {source="MONDO:equivalentTo"}
xref: NANDO:1200841 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200754 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201154 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122661 {source="MONDO:equivalentTo"}
xref: OMIM:232220 {source="Orphanet:79259", source="MONDO:equivalentTo", source="Orphanet:79259/e"}
xref: OMIM:232240 {source="Orphanet:79259", source="Orphanet:79259/btnt", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:364 {source="OMIM:232240", source="OMIM:232220"}
xref: Orphanet:79259 {source="OMIM:232240", source="MONDO:equivalentTo", source="OMIM:232220"}
xref: SCTID:237965005 {source="MONDO:equivalentTo"}
xref: SCTID:30102006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0268146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78644"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0002413 {source="MESH:C562594", source="MONDO:Redundant", source="NCIT:C122661", source="Orphanet:79259"} ! glycogen storage disease I
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
relationship: disease_has_basis_in_disruption_of GO:0015152 ! glucose-6-phosphate transmembrane transporter activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4061 {source="MONDO:mim2gene_medgen"} ! SLC37A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/430" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009289
name: obsolete glycogen storage disease IC
comment: This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
is_obsolete: true
replaced_by: MONDO:0009288

[Term]
id: MONDO:0009290
name: glycogen storage disease II
def: "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." [Orphanet:365]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1595"}
subset: ordo_disorder {source="Orphanet:365"}
subset: orphanet_rare {source="Orphanet:365"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acid maltase deficiency" EXACT [DOID:2752, OMIM:232300]
synonym: "acid maltase deficiency disease" RELATED [GARD:0005714]
synonym: "Aglucosidase alfa" RELATED [GARD:0005714]
synonym: "Alpha-1,4-glucosidase acid deficiency" EXACT [Orphanet:365]
synonym: "Alpha-1,4-glucosidase deficiency" RELATED [OMIM:232300]
synonym: "Cardiomegalia Glycogenica diffusa" RELATED [OMIM:232300]
synonym: "deficiency of alpha-glucosidase" RELATED [GARD:0005714]
synonym: "deficiency of glucoamylase" EXACT [DOID:2752]
synonym: "deficiency of lysosomal alpha-glucosidase" RELATED [GARD:0005714]
synonym: "deficiency of maltase" EXACT [DOID:2752]
synonym: "GAA deficiency" RELATED [OMIM:232300]
synonym: "GAA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "generalised glycogenosis" EXACT OMO:0003005 []
synonym: "generalized glycogenosis" EXACT [DOID:2752]
synonym: "glucosidase acid-1,4-alpha deficiency" RELATED [GARD:0002503]
synonym: "glycogen storage disease 2" RELATED [OMIM:232300]
synonym: "glycogen storage disease caused by mutation in GAA" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to acid maltase deficiency" RELATED [Orphanet:365]
synonym: "glycogen storage disease II" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:232300]
synonym: "glycogen storage disease type 2" EXACT [MONDORULE:1, OMIM:232300, Orphanet:365]
synonym: "glycogen storage disease type II" EXACT [DOID:2752, MONDORULE:3, Orphanet:365]
synonym: "glycogen storage disease, type II" EXACT [DOID:2752]
synonym: "glycogenosis due to acid maltase deficiency" EXACT [Orphanet:365]
synonym: "glycogenosis type 2" EXACT [Orphanet:365]
synonym: "glycogenosis type II" EXACT [Orphanet:365]
synonym: "glycogenosis, generalized, Cardiac form" RELATED [OMIM:232300]
synonym: "glycogenosis, type 2" EXACT [DOID:2752]
synonym: "GSD 2" RELATED [OMIM:232300]
synonym: "GSD due to acid maltase deficiency" EXACT [Orphanet:365]
synonym: "GSD II" RELATED [GARD:0005714]
synonym: "GSD type 2" EXACT [Orphanet:365]
synonym: "GSD type II" EXACT [Orphanet:365]
synonym: "GSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232300]
synonym: "lysosomal alpha-1,4-glucosidase deficiency" EXACT [DOID:2752]
synonym: "Pompe Disease" EXACT [NORD:1595]
synonym: "Pompe disease" EXACT [OMIM:232300, Orphanet:365]
synonym: "Pompe's disease" EXACT [DOID:2752]
xref: DOID:2752 {source="MONDO:equivalentTo"}
xref: GARD:5714 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:365/ntbt", source="Orphanet:365/inclusion", source="Orphanet:365"}
xref: ICD10CM:E74.02 {source="DOID:2752"}
xref: MedDRA:10053185 {source="Orphanet:365/e", source="Orphanet:365"}
xref: MEDGEN:5340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006009 {source="DOID:2752", source="Orphanet:365/e", source="Orphanet:365"}
xref: NANDO:1200138 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200825 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200569 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84734 {source="DOID:2752", source="MONDO:equivalentTo"}
xref: NORD:1595 {source="MONDO:NORD"}
xref: OMIM:232300 {source="DOID:2752", source="Orphanet:365/e", source="MONDO:equivalentTo", source="Orphanet:365"}
xref: Orphanet:365 {source="MONDO:equivalentTo", source="OMIM:232300"}
xref: SCTID:124454007 {source="DOID:2752"}
xref: SCTID:124462004 {source="DOID:2752"}
xref: SCTID:190741002 {source="DOID:2752"}
xref: SCTID:237967002 {source="DOID:2752"}
xref: SCTID:237968007 {source="DOID:2752"}
xref: SCTID:267424007 {source="DOID:2752"}
xref: SCTID:274864009 {source="MONDO:equivalentTo"}
xref: SCTID:76219003 {source="DOID:2752"}
xref: UMLS:C0017921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5340"}
is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="DOID:2752/inferred", source="MONDO:Redundant", source="NCIT:C84734", source="Orphanet:365"} ! disorder of glycogen metabolism
is_a: MONDO:0016340 ! familial restrictive cardiomyopathy
is_a: MONDO:0017738 {source="Orphanet:365"} ! lysosomal glycogen storage disease
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4065 ! GAA
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4065 {source="MONDO:mim2gene_medgen"} ! GAA

[Term]
id: MONDO:0009291
name: glycogen storage disease III
def: "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." [Orphanet:366]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9442", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:366"}
subset: orphanet_rare {source="Orphanet:366"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Agl deficiency" RELATED [OMIM:232400]
synonym: "AGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "amylo 1,6 glucosidase deficiency" EXACT [DOID:2748]
synonym: "amylo-1,6-glucosidase deficiency" EXACT [Orphanet:366]
synonym: "Cori disease" EXACT [Orphanet:366]
synonym: "Cori-Forbes disease" EXACT [Orphanet:366]
synonym: "deficiency of debranching enzyme" EXACT [DOID:2748]
synonym: "deficiency of dextrin" EXACT [DOID:2748]
synonym: "Forbes disease" EXACT [OMIM:232400, Orphanet:366]
synonym: "GDE deficiency" EXACT [Orphanet:366]
synonym: "Gde deficiency" RELATED [OMIM:232400]
synonym: "glycogen Debrancher deficiency" RELATED [OMIM:232400]
synonym: "glycogen storage disease 3" RELATED [OMIM:232400]
synonym: "glycogen storage disease caused by mutation in AGL" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to glycogen debranching enzyme deficiency" RELATED [Orphanet:366]
synonym: "glycogen storage disease III" EXACT [MONDO:Lexical, OMIM:232400]
synonym: "glycogen storage disease IIIa" RELATED [OMIM:232400]
synonym: "glycogen storage disease IIIb" RELATED [OMIM:232400]
synonym: "glycogen storage disease IIIC" RELATED [OMIM:232400]
synonym: "glycogen storage disease IIID" RELATED [OMIM:232400]
synonym: "glycogen storage disease type 3" EXACT [MONDORULE:1, OMIM:232400, Orphanet:366]
synonym: "glycogen storage disease type III" EXACT [DOID:2748, MONDORULE:3, Orphanet:366]
synonym: "glycogen storage disease, type III" EXACT [DOID:2748]
synonym: "glycogenosis due to glycogen debranching enzyme deficiency" EXACT [Orphanet:366]
synonym: "glycogenosis type 3" EXACT [Orphanet:366]
synonym: "glycogenosis type III" EXACT [Orphanet:366]
synonym: "GSD due to glycogen debranching enzyme deficiency" EXACT [Orphanet:366]
synonym: "GSD type 3" EXACT [Orphanet:366]
synonym: "GSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232400]
synonym: "GSDIII" EXACT ABBREVIATION [Orphanet:366]
synonym: "limit dextrinosis" EXACT [OMIM:232400, Orphanet:366]
xref: DOID:2748 {source="MONDO:equivalentTo"}
xref: GARD:9442 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:366/ntbt", source="Orphanet:366/inclusion", source="Orphanet:366"}
xref: ICD10CM:E74.03 {source="DOID:2748"}
xref: MedDRA:10053250 {source="Orphanet:366/e", source="Orphanet:366"}
xref: MEDGEN:6641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006010 {source="MONDO:equivalentTo", source="DOID:2748"}
xref: NANDO:1200826 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200844 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1201019 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200539 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84736 {source="MONDO:equivalentTo", source="DOID:2748"}
xref: OMIM:232400 {source="Orphanet:366/e", source="MONDO:equivalentTo", source="DOID:2748", source="Orphanet:366"}
xref: Orphanet:366 {source="MONDO:equivalentTo", source="OMIM:232400"}
xref: SCTID:124474000 {source="DOID:2748"}
xref: SCTID:66937008 {source="MONDO:equivalentTo", source="DOID:2748"}
xref: UMLS:C0017922 {source="MEDGEN:6641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="DOID:2748", source="DOID:2748/inferred", source="MONDO:Redundant", source="NCIT:C84736", source="Orphanet:366", source="PMID:33340416"} ! disorder of glycogen metabolism
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/321 ! AGL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/321 {source="MONDO:mim2gene_medgen"} ! AGL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009292
name: glycogen storage disease due to glycogen branching enzyme deficiency
def: "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases." [Orphanet:367]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:770"}
subset: ordo_disorder {source="Orphanet:367"}
subset: orphanet_rare {source="Orphanet:367"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amylopectinosis" EXACT [DOID:2750, OMIM:232500, Orphanet:367]
synonym: "Andersen disease" EXACT [OMIM:232500, Orphanet:367]
synonym: "Andersen Disease (GSD IV)" EXACT [NORD:770]
synonym: "Andersen's disease" EXACT []
synonym: "brancher deficiency" RELATED [OMIM:232500]
synonym: "brancher deficiency glycogenosis" EXACT [DOID:2750]
synonym: "branching-transferase deficiency glycogenosis" EXACT [DOID:2750]
synonym: "cirrhosis, familial, with deposition of abnormal glycogen" RELATED [OMIM:232500]
synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT [DOID:2750]
synonym: "Gbe1 deficiency" RELATED [OMIM:232500]
synonym: "GBE1 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glycogen branching enzyme deficiency" RELATED [OMIM:232500]
synonym: "glycogen storage disease 4" RELATED [OMIM:232500]
synonym: "glycogen storage disease caused by mutation in GBE1" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to glycogen branching enzyme deficiency" EXACT CLINGEN_LABEL []
synonym: "glycogen storage disease IV" RELATED [MONDO:Lexical, OMIM:232500]
synonym: "glycogen storage disease type 4" EXACT [MONDORULE:1, OMIM:232500, Orphanet:367]
synonym: "glycogen storage disease type IV" EXACT [DOID:2750, MONDORULE:3, Orphanet:367]
synonym: "glycogen storage disease, type IV" EXACT [DOID:2750]
synonym: "glycogenosis 4" RELATED [OMIM:232500]
synonym: "glycogenosis due to glycogen branching enzyme deficiency" EXACT [Orphanet:367]
synonym: "glycogenosis type 4" EXACT [Orphanet:367]
synonym: "glycogenosis type IV" EXACT [Orphanet:367]
synonym: "GSD 4" RELATED [OMIM:232500]
synonym: "GSD due to glycogen branching enzyme deficiency" EXACT [Orphanet:367]
synonym: "GSD IV" RELATED [GARD:0002520]
synonym: "GSD IV, classic hepatic" RELATED [OMIM:232500]
synonym: "GSD IV, neuromuscular form, adult, with isolated myopathy" RELATED [OMIM:232500]
synonym: "GSD IV, neuromuscular form, childhood" RELATED [OMIM:232500]
synonym: "GSD IV, neuromuscular form, congenital" RELATED [OMIM:232500]
synonym: "GSD IV, neuromuscular form, fatal perinatal" RELATED [OMIM:232500]
synonym: "GSD IV, nonprogressive hepatic" RELATED [OMIM:232500]
synonym: "GSD type 4" EXACT [Orphanet:367]
synonym: "GSD type IV" EXACT [Orphanet:367]
synonym: "GSD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232500]
xref: DOID:2750 {source="MONDO:equivalentTo"}
xref: GARD:2520 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:367", source="Orphanet:367/ntbt", source="Orphanet:367/inclusion"}
xref: ICD10CM:E74.09 {source="DOID:2750"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10053249 {source="Orphanet:367", source="Orphanet:367/e"}
xref: MEDGEN:6642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006011 {source="DOID:2750"}
xref: NANDO:1200827 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200850 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200540 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84737 {source="DOID:2750", source="MONDO:equivalentTo"}
xref: NORD:770 {source="MONDO:NORD"}
xref: OMIM:232500 {source="Orphanet:367", source="DOID:2750", source="Orphanet:367/btnt", source="MONDO:equivalentTo"}
xref: Orphanet:367 {source="MONDO:equivalentTo", source="OMIM:232500"}
xref: SCTID:11179002 {source="DOID:2750"}
xref: SCTID:124267007 {source="DOID:2750", source="MONDO:equivalentTo"}
xref: SCTID:190742009 {source="DOID:2750"}
xref: UMLS:C0017923 {source="MEDGEN:6642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="DC-OMIM:232500", source="DOID:2750", source="DOID:2750/inferred", source="MONDO:Redundant", source="NCIT:C84737", source="Orphanet:367"} ! disorder of glycogen metabolism
is_a: MONDO:0005066 {source="Orphanet:367"} ! metabolic disease
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4180 ! GBE1
relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:367", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis
relationship: excluded_subClassOf MONDO:0016333 {source="Orphanet:367", source="https://orcid.org/0000-0001-5208-3432"} ! familial dilated cardiomyopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4180 {source="MONDO:mim2gene_medgen"} ! GBE1

[Term]
id: MONDO:0009293
name: glycogen storage disease V
def: "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." [Orphanet:368]
subset: gard_rare {source="GARD:6528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:368"}
subset: orphanet_rare {source="Orphanet:368"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease 5" RELATED [OMIM:232600]
synonym: "glycogen storage disease caused by mutation in PYGM" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to muscle glycogen phosphorylase deficiency" RELATED [Orphanet:368]
synonym: "glycogen storage disease type 5" EXACT [MONDORULE:1, OMIM:232600, Orphanet:368]
synonym: "glycogen storage disease type V" EXACT [DOID:2746, MONDORULE:1, Orphanet:368]
synonym: "glycogen storage disease V" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:232600]
synonym: "glycogen storage disease, type V" EXACT [DOID:2746]
synonym: "glycogenosis due to muscle glycogen phosphorylase deficiency" EXACT [Orphanet:368]
synonym: "glycogenosis type 5" EXACT [Orphanet:368]
synonym: "glycogenosis type V" EXACT [Orphanet:368]
synonym: "GSD 5" RELATED [OMIM:232600]
synonym: "GSD due to muscle glycogen phosphorylase deficiency" EXACT [Orphanet:368]
synonym: "GSD type 5" EXACT [Orphanet:368]
synonym: "GSD type V" EXACT [Orphanet:368]
synonym: "GSD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232600]
synonym: "McArdle disease" EXACT [Orphanet:368]
synonym: "Mcardle disease" EXACT [OMIM:232600]
synonym: "McArdle type glycogen storage disease" RELATED [GARD:0006528]
synonym: "McArdle's disease" EXACT [DOID:2746]
synonym: "muscle glycogen phosphorylase deficiency" RELATED [OMIM:232600]
synonym: "myophosphorylase deficiency" EXACT [DOID:2746, OMIM:232600, Orphanet:368]
synonym: "Pygm deficiency" RELATED [OMIM:232600]
synonym: "PYGM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:2746 {source="MONDO:equivalentTo"}
xref: GARD:6528 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:368", source="Orphanet:368/ntbt", source="Orphanet:368/inclusion"}
xref: ICD10CM:E74.04 {source="DOID:2746"}
xref: MedDRA:10018462 {source="Orphanet:368", source="Orphanet:368/e"}
xref: MEDGEN:5341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537276 {source="Orphanet:368", source="Orphanet:368/e"}
xref: MESH:D006012 {source="Orphanet:368", source="MONDO:equivalentTo", source="Orphanet:368/e", source="DOID:2746"}
xref: NANDO:1200828 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200541 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84738 {source="MONDO:equivalentTo", source="DOID:2746"}
xref: OMIM:232600 {source="Orphanet:368", source="MONDO:equivalentTo", source="Orphanet:368/e", source="DOID:2746"}
xref: Orphanet:368 {source="MONDO:equivalentTo", source="OMIM:232600"}
xref: SCTID:55912009 {source="MONDO:equivalentTo", source="DOID:2746"}
xref: UMLS:C0017924 {source="MEDGEN:5341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="DOID:2746/inferred", source="MESH:D006012", source="MONDO:Redundant", source="NCIT:C84738", source="Orphanet:368", source="PMID:33340416"} ! disorder of glycogen metabolism
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9726 ! PYGM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9726 {source="MONDO:mim2gene_medgen"} ! PYGM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009294
name: glycogen storage disease VI
def: "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." [Orphanet:369]
subset: gard_rare {source="GARD:6529", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1241"}
subset: ordo_disorder {source="Orphanet:369"}
subset: orphanet_rare {source="Orphanet:369"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease 6" RELATED [GARD:0006529, OMIM:232700]
synonym: "glycogen storage disease caused by mutation in PYGL" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to liver glycogen phosphorylase deficiency" RELATED [Orphanet:369]
synonym: "glycogen storage disease type 6" EXACT [MONDORULE:1, OMIM:232700, Orphanet:369]
synonym: "Glycogen Storage Disease Type VI" EXACT [NORD:1241]
synonym: "glycogen storage disease type VI" EXACT [DOID:2754, MONDORULE:3, Orphanet:369]
synonym: "glycogen storage disease VI" EXACT [MONDO:Lexical, OMIM:232700]
synonym: "glycogenosis due to liver glycogen phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "glycogenosis type 6" EXACT [Orphanet:369]
synonym: "glycogenosis type VI" EXACT [Orphanet:369]
synonym: "GSD 6" RELATED [OMIM:232700]
synonym: "GSD due to liver glycogen phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "GSD type 6" EXACT [Orphanet:369]
synonym: "GSD type VI" EXACT [Orphanet:369]
synonym: "GSD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232700]
synonym: "hepatic glycogen phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "hepatic phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "hepatophosphorylase deficiency glycogenosis" EXACT [DOID:2754]
synonym: "hers disease" EXACT [OMIM:232700, Orphanet:369]
synonym: "hers' disease" EXACT [DOID:2754]
synonym: "liver glycogen phosphorylase deficiency" EXACT [Orphanet:369]
synonym: "phosphorylase deficiency glycogen-storage disease of liver" RELATED [OMIM:232700]
synonym: "PYGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:2754 {source="MONDO:equivalentTo"}
xref: GARD:6529 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:369/ntbt", source="Orphanet:369", source="Orphanet:369/inclusion"}
xref: ICD10CM:E74.09 {source="DOID:2754"}
xref: MedDRA:10053240 {source="Orphanet:369", source="Orphanet:369/e"}
xref: MEDGEN:6643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006013 {source="DOID:2754", source="MONDO:equivalentTo"}
xref: NANDO:1200846 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200542 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126875 {source="MONDO:equivalentTo"}
xref: NORD:1241 {source="MONDO:NORD"}
xref: OMIM:232700 {source="Orphanet:369", source="DOID:2754", source="MONDO:equivalentTo", source="Orphanet:369/e"}
xref: Orphanet:369 {source="DOID:2754", source="MONDO:equivalentTo", source="OMIM:232700"}
xref: SCTID:237971004 {source="DOID:2754"}
xref: SCTID:29291001 {source="DOID:2754", source="MONDO:equivalentTo"}
xref: UMLS:C0017925 {source="MEDGEN:6643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="DOID:2754/inferred", source="MESH:D006013", source="MONDO:Redundant", source="NCIT:C126875", source="Orphanet:369", source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0005066 {source="Orphanet:369"} ! metabolic disease
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9725 ! PYGL
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9725 {source="MONDO:mim2gene_medgen"} ! PYGL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009295
name: glycogen storage disease VII
def: "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." [Orphanet:371]
subset: gard_rare {source="GARD:5686", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1196", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:371"}
subset: orphanet_rare {source="Orphanet:371"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease 7" RELATED [OMIM:232800]
synonym: "glycogen storage disease caused by mutation in PFKM" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to muscle phosphofructokinase deficiency" RELATED [Orphanet:371]
synonym: "Glycogen Storage Disease Type 7" EXACT [NORD:1196]
synonym: "glycogen storage disease type 7" EXACT [MONDORULE:1, OMIM:232800, Orphanet:371]
synonym: "glycogen storage disease type VII" EXACT [DOID:11721, MONDORULE:3, Orphanet:371]
synonym: "glycogen storage disease VII" EXACT [MONDO:Lexical, OMIM:232800]
synonym: "glycogen storage disease, type VII" EXACT [DOID:11721]
synonym: "glycogenosis due to muscle phosphofructokinase deficiency" EXACT [Orphanet:371]
synonym: "glycogenosis type 7" EXACT [Orphanet:371]
synonym: "glycogenosis type VII" EXACT [Orphanet:371]
synonym: "GSD 7" RELATED [OMIM:232800]
synonym: "GSD due to muscle phosphofructokinase deficiency" EXACT [Orphanet:371]
synonym: "GSD type 7" EXACT [Orphanet:371]
synonym: "GSD type VII" EXACT [Orphanet:371]
synonym: "GSD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232800]
synonym: "GSDVII" EXACT ABBREVIATION [NCIT:C118437]
synonym: "muscle phosphofructokinase deficiency" RELATED [OMIM:232800]
synonym: "Pfkm deficiency" RELATED [OMIM:232800]
synonym: "PFKM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "phosphofructokinase deficiency" EXACT [NCIT:C118437]
synonym: "phosphofructokinase myopathy" EXACT [DOID:11721]
synonym: "Tarui disease" EXACT [OMIM:232800, Orphanet:371]
xref: DOID:11721 {source="MONDO:equivalentTo"}
xref: GARD:5686 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:371/inclusion", source="Orphanet:371", source="Orphanet:371/ntbt"}
xref: ICD10CM:E74.09 {source="DOID:11721"}
xref: MedDRA:10053241 {source="Orphanet:371", source="Orphanet:371/e"}
xref: MEDGEN:5342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006014 {source="DOID:11721", source="MONDO:equivalentTo"}
xref: NANDO:1200823 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200829 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200543 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118437 {source="DOID:11721", source="MONDO:equivalentTo"}
xref: NORD:1196 {source="MONDO:NORD"}
xref: OMIM:232800 {source="DOID:11721", source="MONDO:equivalentTo", source="Orphanet:371", source="Orphanet:371/e"}
xref: Orphanet:371 {source="MONDO:equivalentTo", source="OMIM:232800"}
xref: SCTID:234406005 {source="DOID:11721"}
xref: SCTID:89597008 {source="DOID:11721", source="MONDO:equivalentTo"}
xref: UMLS:C0017926 {source="MEDGEN:5342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="DC-OMIM:232800", source="DOID:11721", source="DOID:11721/inferred", source="MESH:D006014", source="MONDO:Redundant", source="NCIT:C118437", source="Orphanet:371"} ! disorder of glycogen metabolism
is_a: MONDO:0003664 ! hemolytic anemia
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8877 ! PFKM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8877 {source="MONDO:mim2gene_medgen"} ! PFKM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009296
name: glycoprotein storage disease
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glycoprotein storage disease" EXACT [OMIM:232900]
synonym: "glycoprotein storage disorder" EXACT []
xref: MEDGEN:343516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565538 {source="MONDO:equivalentTo"}
xref: OMIM:232900 {source="MONDO:equivalentTo"}
xref: SCTID:7810004 {source="MONDO:equivalentTo"}
xref: UMLS:C1856275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343516"}
is_a: MONDO:0002561 ! lysosomal storage disease
is_a: MONDO:0003847 {source="MESH:C565538/inferred"} ! hereditary disease

[Term]
id: MONDO:0009297
name: familial renal glucosuria
def: "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." [Orphanet:69076]
subset: gard_rare {source="GARD:7548", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1658"}
subset: ordo_disorder {source="Orphanet:69076"}
subset: orphanet_rare {source="Orphanet:69076"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial renal glucosuria" EXACT [Orphanet:69076]
synonym: "glycosuria, renal" RELATED [OMIM:233100]
synonym: "GLYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233100]
synonym: "Glys1" RELATED [OMIM:233100]
synonym: "renal diabetes" EXACT [DOID:9432]
synonym: "renal glucosuria" RELATED [GARD:0007548, MONDO:Lexical, OMIM:233100]
synonym: "Renal Glycosuria" EXACT [NORD:1658]
synonym: "renal glycosuria" RELATED [DOID:9432, GARD:0007548]
synonym: "SGLT2 deficiency" EXACT [Orphanet:69076]
xref: DOID:9432 {source="EFO:1001151", source="MONDO:equivalentTo"}
xref: GARD:7548 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:69076/inclusion", source="Orphanet:69076", source="DOID:9432", source="Orphanet:69076/ntbt"}
xref: ICD9:271.4 {source="EFO:1001151", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9432"}
xref: MedDRA:10038457 {source="EFO:1001151"}
xref: MEDGEN:757652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006030 {source="EFO:1001151", source="MONDO:equivalentTo", source="DOID:9432"}
xref: NORD:1658 {source="MONDO:NORD"}
xref: OMIM:233100 {source="MONDO:equivalentTo", source="Orphanet:69076", source="DOID:9432", source="Orphanet:69076/e"}
xref: Orphanet:69076 {source="MONDO:equivalentTo", source="OMIM:233100"}
xref: SCTID:154737003 {source="DOID:9432"}
xref: SCTID:190759004 {source="DOID:9432"}
xref: SCTID:1913007 {source="DOID:9432"}
xref: SCTID:236367002 {source="DOID:9432"}
xref: SCTID:267430007 {source="EFO:1001151", source="MONDO:equivalentTo", source="DOID:9432"}
xref: SCTID:367418000 {source="DOID:9432"}
xref: UMLS:C3245525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:757652"}
is_a: MONDO:0006510 {source="DOID:9432", source="MESH:D006030"} ! renal tubular transport disease
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0019226 {source="Orphanet:69076"} ! glucose transport disorder
relationship: disease_has_feature HP:0003076 ! Glycosuria
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:69076", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11037 {source="MONDO:mim2gene_medgen"} ! SLC5A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria" xsd:anyURI {source="GARD:0007548"}

[Term]
id: MONDO:0009298
name: GOMBO syndrome
synonym: "GOMBO syndrome" EXACT [OMIM:233270]
synonym: "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" RELATED [OMIM:233270]
xref: MEDGEN:343515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537284 {source="MONDO:equivalentTo"}
xref: OMIM:233270 {source="MONDO:equivalentTo"}
xref: UMLS:C1856274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343515"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009299
name: 46 XX gonadal dysgenesis
def: "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." [Orphanet:243]
subset: gard_rare {source="GARD:5671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:243"}
subset: ordo_malformation_syndrome {source="Orphanet:243"}
subset: orphanet_rare {source="Orphanet:243"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XX complete gonadal dysgenesis" EXACT [Orphanet:243]
synonym: "46,XX gonadal dysgenesis" EXACT [NCIT:C120197]
synonym: "46,XX ovarian dysgenesis" EXACT [Orphanet:243]
synonym: "46,XX pure gonadal dysgenesis" EXACT [Orphanet:243]
synonym: "follicular stimulating hormone-resistant ovaries" EXACT [Orphanet:243]
synonym: "FSH-RO" EXACT [Orphanet:243]
synonym: "hypergonadotropic ovarian dysgenesis" EXACT [Orphanet:243]
synonym: "ovarian dysgenesis" RELATED [OMIMPS:233300]
synonym: "XX female gonadal dysgenesis" EXACT [Orphanet:243]
synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300]
synonym: "XX-GD" EXACT [Orphanet:243]
xref: DOID:14450 {source="MONDO:equivalentTo"}
xref: GARD:5671 {source="MONDO:GARD"}
xref: ICD10CM:Q99.1 {source="Orphanet:243/e", source="Orphanet:243/specific", source="Orphanet:243"}
xref: icd11.foundation:1742528605 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:243"}
xref: MEDGEN:146899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D023961 {source="Orphanet:243/e", source="DOID:14450", source="MONDO:equivalentTo", source="Orphanet:243"}
xref: NANDO:2200384 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C120197 {source="DOID:14450", source="MONDO:equivalentTo"}
xref: OMIMPS:233300 {source="MONDO:equivalentTo"}
xref: Orphanet:243 {source="DOID:14450", source="MONDO:equivalentTo", source="OMIM:233300"}
xref: SCTID:95198001 {source="MONDO:equivalentTo"}
xref: UMLS:C0685837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146899"}
is_a: MONDO:0001967 {source="DOID:14450", source="MESH:D023961", source="NCIT:C120197"} ! gonadal dysgenesis
is_a: MONDO:0005558 {source="OMIM:233300", source="Orphanet:243/inferred"} ! ovarian disorder
is_a: MONDO:0019852 {source="Orphanet:243"} ! inherited primary ovarian failure
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:233300"} ! inherited

[Term]
id: MONDO:0009300
name: Perrault syndrome 1
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:642945"}
subset: rare
synonym: "gonadal dysgenesis, 20 type, with deafness" RELATED [OMIM:233400]
synonym: "HSD17B4 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ovarian dysgenesis with sensorineural deafness" RELATED [OMIM:233400]
synonym: "Perrault syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:233400]
synonym: "Perrault syndrome caused by mutation in HSD17B4" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 1" EXACT [MONDORULE:1, OMIM:233400, Orphanet:642945]
synonym: "PRLTS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233400]
xref: MEDGEN:1640257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:233400 {source="MONDO:equivalentTo"}
xref: Orphanet:2855 {source="OMIM:233400"}
xref: Orphanet:642945 {source="MONDO:equivalentTo"}
xref: UMLS:C4551721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640257"}
is_a: MONDO:0017312 {source="DC-OMIM:233400", source="MONDO:Redundant", source="OMIM:233400"} ! Perrault syndrome
intersection_of: MONDO:0017312 ! Perrault syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5213 ! HSD17B4
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:233400"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5213 {source="MONDO:mim2gene_medgen"} ! HSD17B4

[Term]
id: MONDO:0009301
name: 46,XY sex reversal 7
subset: gard_rare {source="GARD:15174", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XY gonadal dysgenesis, partial or complete, Dhh-related" RELATED [OMIM:233420]
synonym: "46,XY SEX reversal 7" RELATED [OMIM:233420]
synonym: "46,XY sex reversal 7" EXACT [MONDO:Lexical, OMIM:233420]
synonym: "46,XY Sex reversal type 7" EXACT [MONDORULE:1, OMIM:233420]
synonym: "46,XY Sex reversal, partial or complete, Dhh-related" RELATED [OMIM:233420]
synonym: "46XY sex reversal 7" EXACT [OMIM:233420, OMIM:genemap2]
synonym: "gonadal dysgenesis, XY, Male-limited" RELATED [OMIM:233420]
synonym: "SRXY7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233420]
xref: DOID:0111774 {source="MONDO:equivalentTo"}
xref: GARD:15174 {source="MONDO:GARD"}
xref: MEDGEN:383876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565537 {source="MONDO:equivalentTo"}
xref: OMIM:233420 {source="MONDO:equivalentTo"}
xref: Orphanet:242 {source="OMIM:233420"}
xref: UMLS:C1856273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383876"}
is_a: MONDO:0010765 {source="MESH:C565537", source="OMIM:233420", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2865 {source="MONDO:mim2gene_medgen"} ! DHH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009302
name: XY type gonadal dysgenesis-associated anomalies syndrome
def: "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." [Orphanet:1770]
subset: gard_rare {source="GARD:2541", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1770"}
subset: ordo_malformation_syndrome {source="Orphanet:1770"}
subset: orphanet_rare {source="Orphanet:1770"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gonadal dysgenesis XY type associated anomalies" RELATED [GARD:0002541]
synonym: "gonadal dysgenesis, 10Y type, with associated anomalies" RELATED [OMIM:233430]
synonym: "gonadal dysgenesis, XY type, with associated anomalies" RELATED [OMIM:233430]
xref: GARD:2541 {source="MONDO:GARD"}
xref: ICD10CM:Q99.1 {source="Orphanet:1770", source="Orphanet:1770/attributed", source="Orphanet:1770/ntbt"}
xref: MEDGEN:344696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565536 {source="MONDO:equivalentTo"}
xref: OMIM:233430 {source="Orphanet:1770", source="MONDO:equivalentObsolete", source="Orphanet:1770/e"}
xref: Orphanet:1770 {source="MONDO:equivalentTo", source="OMIM:233430"}
xref: UMLS:C1856272 {source="MEDGEN:344696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020040 {source="Orphanet:1770"} ! 46,XY disorder of sex development
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies" xsd:anyURI {source="GARD:0002541"}

[Term]
id: MONDO:0009303
name: anti-glomerular basement membrane disease
def: "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." [https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome]
subset: gard_rare {source="GARD:2551", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1198"}
subset: ordo_disorder {source="Orphanet:375"}
subset: orphanet_rare {source="Orphanet:375"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anti-GBM syndrome" EXACT [Orphanet:375]
synonym: "anti-glomerular basement membrane antibody disease" RELATED [GARD:0002551]
synonym: "anti-glomerular basement membrane disease" EXACT [DOID:9808]
synonym: "glomerulonephritis - pulmonary haemorrhage" RELATED OMO:0003005 []
synonym: "glomerulonephritis - pulmonary hemorrhage" RELATED [GARD:0002551]
synonym: "Goodpasture Syndrome" EXACT [NORD:1198]
synonym: "Goodpasture syndrome" EXACT [OMIM:233450, Orphanet:375]
synonym: "pulmonary renal syndrome" RELATED [GARD:0002551]
synonym: "rapidly progressive glomerulonephritis with pulmonary haemorrhage" RELATED OMO:0003005 []
synonym: "rapidly progressive glomerulonephritis with pulmonary hemorrhage" RELATED [GARD:0002551]
xref: DOID:9808 {source="EFO:0007290", source="MONDO:equivalentTo"}
xref: EFO:0007290 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2551 {source="MONDO:GARD"}
xref: ICD10CM:M31.0 {source="DOID:9808"}
xref: ICD10EXP:M31.0+ {source="Orphanet:375/e", source="Orphanet:375"}
xref: ICD10EXP:N08.5* {source="Orphanet:375/e", source="Orphanet:375"}
xref: icd11.foundation:591736785 {source="MONDO:equivalentTo", source="Orphanet:375", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:446.21 {source="DOID:9808"}
xref: MedDRA:10018620 {source="Orphanet:375/e", source="Orphanet:375"}
xref: MEDGEN:140788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019867 {source="EFO:0007290", source="MONDO:equivalentTo", source="DOID:9808"}
xref: NANDO:1200717 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200718 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200125 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34649 {source="DOID:9808"}
xref: NCIT:C84566 {source="MONDO:equivalentTo", source="DOID:9808"}
xref: NORD:1198 {source="MONDO:NORD"}
xref: OMIM:233450 {source="Orphanet:375/e", source="MONDO:equivalentTo", source="DOID:9808", source="Orphanet:375"}
xref: Orphanet:375 {source="OMIM:233450", source="MONDO:equivalentTo"}
xref: SCTID:155445002 {source="DOID:9808"}
xref: SCTID:195351002 {source="DOID:9808"}
xref: SCTID:236432001 {source="MONDO:equivalentTo"}
xref: SCTID:236506009 {source="DOID:9808"}
xref: SCTID:266323005 {source="DOID:9808"}
xref: SCTID:50581000 {source="DOID:9808"}
xref: UMLS:C0403529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140788"}
is_a: MONDO:0007179 {source="DOID:9808", source="EFO:0007290", source="MESH:D019867", source="MONDO:Redundant", source="NCIT:C84566"} ! autoimmune disease
relationship: disease_has_feature HP:0000099 ! Glomerulonephritis
relationship: disease_has_feature HP:0002960 ! Autoimmunity
relationship: excluded_subClassOf MONDO:0015490 {source="Orphanet:375", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete predominantly small-vessel vasculitis
relationship: excluded_subClassOf MONDO:0017035 {source="Orphanet:375", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:375", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome" xsd:anyURI {source="GARD:0002551"}

[Term]
id: MONDO:0009304
name: obsolete Gorlin-Chaudhry-Moss syndrome
comment: OMIM merged these terms
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1685" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0012853

[Term]
id: MONDO:0009305
name: granulocytopenia with immunoglobulin abnormality
subset: otar {source="MONDO:OTAR"}
synonym: "granulocytopenia with immunoglobulin abnormality" EXACT [OMIM:233600]
synonym: "immunodeficiency 59 and hypoglycemia" EXACT [OMIM:233600, OMIM:genemap2]
xref: DOID:0111974 {source="MONDO:equivalentTo"}
xref: MEDGEN:383874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565535 {source="MONDO:equivalentTo"}
xref: OMIM:233600 {source="MONDO:equivalentTo"}
xref: UMLS:C1856263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383874"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009306
name: combined immunodeficiency with skin granulomas
subset: gard_rare {source="GARD:13587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157949"}
subset: orphanet_rare {source="Orphanet:157949"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCHIDG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233650]
synonym: "CID due to RAG 1/2 deficiency" EXACT [Orphanet:157949]
synonym: "combined cellular and humoral immune defects with granulomas" RELATED [MONDO:Lexical, OMIM:233650]
synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [Orphanet:157949]
xref: DOID:0112253 {source="MONDO:equivalentTo"}
xref: GARD:13587 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="Orphanet:157949/attributed", source="Orphanet:157949/ntbt", source="Orphanet:157949"}
xref: MEDGEN:435945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567115 {source="MONDO:equivalentTo"}
xref: OMIM:233650 {source="Orphanet:157949/e", source="MONDO:equivalentTo", source="Orphanet:157949"}
xref: Orphanet:157949 {source="MONDO:equivalentTo", source="OMIM:233650"}
xref: UMLS:C2673536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:435945"}
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0005093 ! skin disorder
is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:157949", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0009307
name: granulomatous disease with defect in neutrophil chemotaxis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "granulomatous disease with defect in neutrophil chemotaxis" EXACT [OMIM:233670]
xref: MEDGEN:383873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565534 {source="MONDO:equivalentTo"}
xref: OMIM:233670 {source="MONDO:equivalentObsolete"}
xref: Orphanet:379 {source="OMIM:233670"}
xref: UMLS:C1856261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383873"}
is_a: MONDO:0018305 {source="MESH:C565534", source="Orphanet:379/btnt"} ! chronic granulomatous disease

[Term]
id: MONDO:0009308
name: granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
subset: gard_rare {source="GARD:15175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CGD due to deficiency of the Alpha Subunit of cytochrome B" RELATED [OMIM:233690]
synonym: "CGD, autosomal recessive cytochrome B-negative" RELATED [OMIM:233690]
synonym: "chronic granulomatous disease 4, autosomal recessive" EXACT [OMIM:233690, OMIM:genemap2]
synonym: "Cyba deficiency" RELATED [OMIM:233690]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" EXACT [OMIM:233690]
xref: DOID:0070193 {source="MONDO:equivalentTo"}
xref: GARD:15175 {source="MONDO:GARD"}
xref: MEDGEN:383872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565533 {source="MONDO:equivalentTo"}
xref: NANDO:2201280 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:233690 {source="MONDO:equivalentTo"}
xref: Orphanet:379 {source="OMIM:233690"}
xref: UMLS:C1856255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383872"}
is_a: MONDO:0018305 {source="DC-OMIM:233690", source="MESH:C565533", source="OMIM:233690"} ! chronic granulomatous disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2577 {source="MONDO:mim2gene_medgen"} ! CYBA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009309
name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
def: "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDG1" RELATED ABBREVIATION [OMIM:233700]
synonym: "CGD, autosomal recessive cytochrome B-positive, type 1" RELATED [OMIM:233700]
synonym: "chronic granulomatous disease 1, autosomal recessive" EXACT [OMIM:233700, OMIM:genemap2]
synonym: "chronic granulomatous disease caused by mutation in NCF1" EXACT [MONDO:design_pattern]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1" EXACT CLINGEN_LABEL []
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I" RELATED [OMIM:233700]
synonym: "granulomatous disease, chronic, due to Ncf1 deficiency" RELATED [OMIM:233700]
synonym: "NCF1 chronic granulomatous disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Ncf1, deficiency of" RELATED [OMIM:233700]
synonym: "neutrophil cytosol Factor 1, deficiency of" RELATED [OMIM:233700]
synonym: "p47-PHOX, deficiency of" RELATED [OMIM:233700]
synonym: "Soc2, deficiency of" RELATED [OMIM:233700]
synonym: "soluble oxidase component II, deficiency of" RELATED [OMIM:233700]
xref: DOID:0070192 {source="MONDO:equivalentTo"}
xref: GARD:15176 {source="MONDO:GARD"}
xref: MEDGEN:341102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565532 {source="MONDO:equivalentTo"}
xref: NANDO:2201281 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:233700 {source="MONDO:equivalentTo"}
xref: Orphanet:379 {source="OMIM:233700"}
xref: UMLS:C1856251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341102"}
is_a: MONDO:0018305 {source="DC-OMIM:233700", source="MESH:C565532", source="MONDO:Redundant", source="OMIM:233700"} ! chronic granulomatous disease
intersection_of: MONDO:0018305 ! chronic granulomatous disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7660 ! NCF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7660 {source="MONDO:mim2gene_medgen"} ! NCF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009310
name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
def: "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDG2" RELATED ABBREVIATION [OMIM:233710]
synonym: "CGD, autosomal recessive cytochrome B-positive, type 2" RELATED [OMIM:233710]
synonym: "chronic granulomatous disease 2, autosomal recessive" EXACT [OMIM:233710, OMIM:genemap2]
synonym: "chronic granulomatous disease caused by mutation in NCF2" EXACT [MONDO:design_pattern]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2" EXACT CLINGEN_LABEL []
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II" RELATED [OMIM:233710]
synonym: "granulomatous disease, chronic, due to Ncf2 deficiency" RELATED [OMIM:233710]
synonym: "NCF2 chronic granulomatous disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Ncf2, deficiency of" RELATED [OMIM:233710]
synonym: "neutrophil cytosol Factor 2, deficiency of" RELATED [OMIM:233710]
synonym: "P67-PHOX, deficiency of" RELATED [OMIM:233710]
xref: DOID:0070191 {source="MONDO:equivalentTo"}
xref: GARD:15177 {source="MONDO:GARD"}
xref: MEDGEN:383869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565531 {source="MONDO:equivalentTo"}
xref: NANDO:2201282 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:233710 {source="MONDO:equivalentTo"}
xref: Orphanet:379 {source="OMIM:233710"}
xref: UMLS:C1856245 {source="MEDGEN:383869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018305 {source="DC-OMIM:233710", source="MESH:C565531", source="MONDO:Redundant", source="OMIM:233710"} ! chronic granulomatous disease
intersection_of: MONDO:0018305 ! chronic granulomatous disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7661 ! NCF2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7661 {source="MONDO:mim2gene_medgen"} ! NCF2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009311
name: grouped pigmentation of the retina
synonym: "grouped pigmentation of retinal pigment epithelium" RELATED [OMIM:233800]
synonym: "grouped pigmentation of the macula" RELATED [OMIM:233800]
synonym: "grouped pigmentation of the retina" EXACT [OMIM:233800]
xref: MEDGEN:341100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565530 {source="MONDO:equivalentTo"}
xref: OMIM:233800 {source="MONDO:equivalentTo"}
xref: UMLS:C1856244 {source="MONDO:equivalentTo", source="MEDGEN:341100", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565530/inferred"} ! hereditary disease

[Term]
id: MONDO:0009312
name: lipodystrophy due to peptidic growth factors deficiency
def: "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)." [Orphanet:1979]
subset: gard_rare {source="GARD:12604", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1979"}
subset: orphanet_rare {source="Orphanet:1979"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency" EXACT [Orphanet:1979]
synonym: "growth factors, combined defect OF" RELATED [OMIM:233805]
synonym: "Hoepffner Dreyer Reimers syndrome" RELATED [GARD:0004280]
synonym: "Hoepffner-Dreyer-Reimers syndrome" EXACT [Orphanet:1979]
synonym: "insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency" RELATED [OMIM:233805]
synonym: "peptide growth factors deficiency" RELATED [GARD:0004280]
synonym: "peptidic growth factors deficiency" RELATED [GARD:0004280]
synonym: "Werner-like syndrome due to combined Growth Factor deficiency" RELATED [OMIM:233805]
synonym: "Werner-like syndrome due to combined growth factor deficiency" EXACT [Orphanet:1979]
xref: GARD:12604 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:1979/attributed", source="Orphanet:1979/ntbt", source="Orphanet:1979"}
xref: MEDGEN:419375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565529 {source="MONDO:equivalentTo"}
xref: OMIM:233805 {source="Orphanet:1979/e", source="MONDO:equivalentTo", source="Orphanet:1979"}
xref: Orphanet:1979 {source="OMIM:233805", source="MONDO:equivalentTo"}
xref: SCTID:724176001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419375"}
is_a: MONDO:0020087 {source="Orphanet:1979"} ! hereditary lipodystrophy

[Term]
id: MONDO:0009313
name: Grubben-de Cock-Borghgraef syndrome
def: "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." [Orphanet:2101]
subset: gard_rare {source="GARD:2576", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2101"}
subset: ordo_malformation_syndrome {source="Orphanet:2101"}
subset: orphanet_rare {source="Orphanet:2101"}
subset: rare
synonym: "developmental delay - hypotonia - extremities hypertrophy" RELATED [GARD:0002576]
synonym: "developmental delay-hypotonia-extremities hypertrophy syndrome" EXACT [Orphanet:2101]
synonym: "growth retardation, small and puffy hands and feet, and eczema" RELATED [OMIM:233810]
synonym: "Grubben de Cock Borghgraef syndrome" RELATED [GARD:0002576]
synonym: "severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin" RELATED [GARD:0002576]
xref: GARD:2576 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2101/attributed", source="Orphanet:2101/ntbt", source="Orphanet:2101"}
xref: MEDGEN:419108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537621 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"}
xref: OMIM:233810 {source="Orphanet:2101", source="MONDO:equivalentTo", source="Orphanet:2101/e"}
xref: Orphanet:2101 {source="MONDO:equivalentTo", source="OMIM:233810"}
xref: UMLS:C2931551 {source="MEDGEN:419108", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2101", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome" xsd:anyURI {source="GARD:0002576"}

[Term]
id: MONDO:0009314
name: obsolete GTP-cyclohydrolase I deficiency
comment: Created new term for GTP Cyclohydrolase I deficiency with hyperphenylalaninemia and created grouping class named GTP Cyclohydrolase I deficiency. Obsoleted this to avoid confusion with the new grouping class and the class this was renamed to.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1491" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100186

[Term]
id: MONDO:0009315
name: congenital factor XII deficiency
def: "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." [Orphanet:330]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6558", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1119"}
subset: ordo_disorder {source="Orphanet:330"}
subset: orphanet_rare {source="Orphanet:330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coagulation factor 12 deficiency" RELATED [GARD:0006558]
synonym: "congenital factor XII deficiency" EXACT CLINGEN_LABEL []
synonym: "congenital Hageman factor deficiency" EXACT [Orphanet:330]
synonym: "deficiency, Hageman" EXACT [DOID:2231]
synonym: "F12 deficiency" RELATED [OMIM:234000]
synonym: "factor 12 deficiency" RELATED [GARD:0006558]
synonym: "Factor XII Deficiency" EXACT [NORD:1119]
synonym: "factor XII deficiency" RELATED [OMIM:234000]
synonym: "factor XII deficiency disease" EXACT [DOID:2231]
synonym: "Haf deficiency" RELATED [OMIM:234000]
synonym: "Hageman Factor deficiency" EXACT [DOID:2231, NCIT:C26770, OMIM:234000]
xref: DOID:2231 {source="MONDO:equivalentTo"}
xref: GARD:6558 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:330/attributed", source="Orphanet:330/ntbt", source="Orphanet:330"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005175 {source="DOID:2231", source="MONDO:equivalentTo"}
xref: NANDO:2200680 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131740 {source="MONDO:equivalentTo"}
xref: NORD:1119 {source="MONDO:NORD"}
xref: OMIM:234000 {source="DOID:2231", source="Orphanet:330/e", source="MONDO:equivalentTo", source="Orphanet:330"}
xref: Orphanet:330 {source="OMIM:234000", source="MONDO:equivalentTo"}
xref: SCTID:46981006 {source="DOID:2231", source="MONDO:equivalentTo"}
xref: UMLS:C0015526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8772"}
is_a: MONDO:0000429 {source="DOID:2231"} ! autosomal genetic disease
is_a: MONDO:0002242 {source="MESH:D005175"} ! coagulation protein disease
is_a: MONDO:0002243 {source="MESH:D005175"} ! hemorrhagic disease
is_a: MONDO:0021181 {source="MESH:D005175", source="MONDO:0016633-obsoleted", source="MONDO:Redundant"} ! inherited blood coagulation disorder
relationship: disease_arises_from_feature HP:0004841 ! Reduced factor XII activity
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3530 {source="MONDO:mim2gene_medgen"} ! F12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency" xsd:anyURI {source="GARD:0006558"}

[Term]
id: MONDO:0009316
name: obsolete hair defect-photosensitivity-intellectual disability syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4390" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022316

[Term]
id: MONDO:0009317
name: obsolete nonphotosensitive trichothiodystrophy
def: "OBSOLETE. A trichothiodystrophy that is non-photosensitive" [Wikipedia:Trichothiodystrophy]
xref: DOID:0111867 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:1245 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2852" xsd:anyURI
is_obsolete: true
consider: MONDO:0018053

[Term]
id: MONDO:0009318
name: Hallermann-Streiff syndrome
def: "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." [Orphanet:2108]
subset: gard_rare {source="GARD:288", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1888"}
subset: ordo_disorder {source="Orphanet:2108"}
subset: ordo_malformation_syndrome {source="Orphanet:2108"}
subset: orphanet_rare {source="Orphanet:2108"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FranC'ois dyscephalic syndrome" EXACT [Orphanet:2108]
synonym: "Francois dyscephalic syndrome" EXACT [DOID:4534, OMIM:234100]
synonym: "François dyscephalic syndrome" EXACT [Orphanet:2108]
synonym: "Hallerman - Streiff syndrome" EXACT [DOID:4534]
synonym: "Hallermann Streiff Francois syndrome" RELATED [GARD:0000288]
synonym: "Hallermann Streiff syndrome" RELATED [GARD:0000288]
synonym: "Hallermann syndrome" EXACT [NCIT:C84746]
synonym: "Hallermann's syndrome" EXACT [DOID:4534]
synonym: "Hallermann-Streiff syndrome" EXACT [MONDO:Lexical, OMIM:234100]
synonym: "HSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234100]
synonym: "oculomandibulofacial syndrome" EXACT [Orphanet:2108]
xref: DOID:4534 {source="MONDO:equivalentTo"}
xref: GARD:288 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2108", source="Orphanet:2108/index", source="Orphanet:2108/ntbt"}
xref: MEDGEN:5414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006210 {source="DOID:4534", source="MONDO:equivalentTo"}
xref: NANDO:2200973 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84746 {source="DOID:4534", source="MONDO:equivalentTo"}
xref: NORD:1888 {source="MONDO:NORD"}
xref: OMIM:234100 {source="DOID:4534", source="MONDO:equivalentTo", source="Orphanet:2108", source="Orphanet:2108/e"}
xref: Orphanet:2108 {source="DOID:4534", source="OMIM:234100", source="MONDO:equivalentTo"}
xref: SCTID:205417000 {source="DOID:4534"}
xref: SCTID:7903009 {source="DOID:4534", source="MONDO:equivalentTo"}
xref: UMLS:C0018522 {source="MEDGEN:5414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-2825-0621"} ! hereditary disease
is_a: MONDO:0019303 {source="Orphanet:2108"} ! premature aging syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2108", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0002254 {source="DOID:4534", source="MONDO:Redundant", source="NCIT:C84746", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:2108", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0015329 {source="Orphanet:2108", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformation syndrome with short stature
relationship: excluded_subClassOf MONDO:0019287 {source="Orphanet:2108", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0019699 {source="Orphanet:2108", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete slender bone dysplasia
relationship: excluded_subClassOf MONDO:0020188 {source="Orphanet:2108", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital absence of the eyebrow/eyelashes
relationship: excluded_subClassOf MONDO:0020234 {source="Orphanet:2108", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete craniofacial anomaly with cataract
relationship: excluded_subClassOf MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2108", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome" xsd:anyURI {source="GARD:0000288"}

[Term]
id: MONDO:0009319
name: pantothenate kinase-associated neurodegeneration
def: "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." [Orphanet:157850]
subset: gard_rare {source="GARD:6564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1550"}
subset: ordo_disorder {source="Orphanet:157850"}
subset: orphanet_rare {source="Orphanet:157850"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain iron accumulation type I syndrome" BROAD [DOID:3981, NCIT:C8967]
synonym: "Hallervorden-Spatz disease" EXACT DEPRECATED [DOID:3981, OMIM:234200]
synonym: "Hallervorden-Spatz syndrome" EXACT DEPRECATED [DOID:3981, Orphanet:157850]
synonym: "NBIA1" EXACT ABBREVIATION [DOID:3981, MONDO:Lexical, OMIM:234200, Orphanet:157850]
synonym: "neuroaxonal dystrophy, late infantile" RELATED [GARD:0006564]
synonym: "neurodegeneration with brain iron accumulation 1" EXACT [DOID:3981, MONDO:Lexical, OMIM:234200]
synonym: "neurodegeneration with brain iron accumulation type 1" EXACT [MONDORULE:1, OMIM:234200, Orphanet:157850]
synonym: "pantothenate kinase-associated neurodegeneration" EXACT [OMIM:234200]
synonym: "pigmentary pallidal degeneration" EXACT [DOID:3981]
synonym: "PKAN" EXACT ABBREVIATION [Orphanet:157850]
synonym: "Pkan neuroaxonal dystrophy, juvenile-onset" RELATED [OMIM:234200]
xref: DOID:3981 {source="MONDO:equivalentTo"}
xref: GARD:6564 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="DOID:3981", source="Orphanet:157850", source="Orphanet:157850/e", source="Orphanet:157850/specific"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006211 {source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="Orphanet:157850/e"}
xref: NANDO:1200534 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200886 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84988 {source="DOID:3981", source="MONDO:equivalentTo"}
xref: NCIT:C8967 {source="DOID:3981"}
xref: NORD:1550 {source="MONDO:NORD"}
xref: OMIM:234200 {source="DOID:3981", source="Orphanet:157850", source="MONDO:equivalentTo", source="Orphanet:157850/e"}
xref: Orphanet:157850 {source="DOID:3981", source="MONDO:equivalentTo", source="OMIM:234200"}
xref: SCTID:2992000 {source="DOID:3981", source="MONDO:equivalentTo"}
xref: UMLS:C0018523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6708"}
is_a: MONDO:0016987 {source="Orphanet:157850"} ! neuroacanthocytosis
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0018307 {source="DC-OMIM:234200", source="DOID:3981", source="OMIM:234200", source="Orphanet:157850"} ! neurodegeneration with brain iron accumulation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15894 {source="MONDO:mim2gene_medgen"} ! PANK2

[Term]
id: MONDO:0009320
name: Hall-Riggs syndrome
def: "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." [Orphanet:2107]
subset: gard_rare {source="GARD:2586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2107"}
subset: ordo_malformation_syndrome {source="Orphanet:2107"}
subset: orphanet_rare {source="Orphanet:2107"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hall Riggs intellectual disability syndrome" RELATED [GARD:0002586]
synonym: "Hall Riggs mental retardation syndrome" RELATED DEPRECATED [GARD:0002586]
synonym: "HALL-Riggs intellectual disability syndrome" RELATED [OMIM:234250]
synonym: "HALL-Riggs mental retardation syndrome" RELATED DEPRECATED [OMIM:234250]
xref: GARD:2586 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2107", source="Orphanet:2107/attributed", source="Orphanet:2107/ntbt"}
xref: MEDGEN:341089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535623 {source="MONDO:equivalentTo"}
xref: OMIM:234250 {source="MONDO:equivalentTo", source="Orphanet:2107", source="Orphanet:2107/e"}
xref: Orphanet:2107 {source="OMIM:234250", source="MONDO:equivalentTo"}
xref: SCTID:721008000 {source="MONDO:equivalentTo"}
xref: UMLS:C1856198 {source="MONDO:equivalentTo", source="MEDGEN:341089", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2107"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2107", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009321
name: hallux varus-preaxial polysyndactyly syndrome
def: "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." [Orphanet:2110]
subset: gard_rare {source="GARD:3118", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2110"}
subset: ordo_malformation_syndrome {source="Orphanet:2110"}
subset: orphanet_rare {source="Orphanet:2110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hallux varus and preaxial polysyndactyly" RELATED [OMIM:234280]
synonym: "Kleiner Holmes syndrome" RELATED [GARD:0003118]
synonym: "Kleiner-Holmes syndrome" EXACT [Orphanet:2110]
xref: GARD:3118 {source="MONDO:GARD"}
xref: ICD10CM:Q74.2 {source="Orphanet:2110", source="Orphanet:2110/attributed", source="Orphanet:2110/ntbt"}
xref: MEDGEN:341088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536885 {source="MONDO:equivalentTo"}
xref: OMIM:234280 {source="Orphanet:2110", source="MONDO:equivalentTo", source="Orphanet:2110/e"}
xref: Orphanet:2110 {source="MONDO:equivalentTo", source="OMIM:234280"}
xref: UMLS:C1856197 {source="MEDGEN:341088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="Orphanet:2110"} ! congenital limb malformation

[Term]
id: MONDO:0009322
name: obsolete halo nevi
xref: OMIM:234300 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1259" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/1411" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006778

[Term]
id: MONDO:0009323
name: Halothane hepatitis
synonym: "Halothane hepatitis" EXACT [OMIM:234350]
xref: MEDGEN:66842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562477 {source="MONDO:equivalentTo"}
xref: OMIM:234350 {source="MONDO:equivalentTo"}
xref: SCTID:235873001 {source="MONDO:equivalentTo"}
xref: UMLS:C0241913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66842"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009324
name: Hartnup disease
def: "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." [Orphanet:2116]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1217"}
subset: ordo_disorder {source="Orphanet:2116"}
subset: orphanet_rare {source="Orphanet:2116"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aminoaciduria, Hartnup type" EXACT [Orphanet:2116]
synonym: "deficiency of tryptophan oxygenase" EXACT [DOID:1060]
synonym: "Hartnup disease" EXACT CLINGEN_LABEL [OMIM:234500]
synonym: "Hartnup disorder" EXACT [MONDO:Lexical, OMIM:234500, Orphanet:2116]
synonym: "HND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234500]
synonym: "neutral 1 amino acid transport defect" EXACT []
synonym: "neutral amino acid transport defect" EXACT [DOID:1060]
xref: DOID:1060 {source="MONDO:equivalentTo"}
xref: GARD:6569 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:2116/inclusion", source="Orphanet:2116", source="Orphanet:2116/ntbt"}
xref: ICD10CM:E72.02 {source="DOID:1060"}
xref: MedDRA:10019165 {source="Orphanet:2116", source="Orphanet:2116/e"}
xref: MEDGEN:6723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006250 {source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060", source="Orphanet:2116/e"}
xref: NANDO:2200487 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84748 {source="MONDO:equivalentTo", source="DOID:1060"}
xref: NORD:1217 {source="MONDO:NORD"}
xref: OMIM:234500 {source="MONDO:equivalentTo", source="Orphanet:2116", source="DOID:1060", source="Orphanet:2116/e"}
xref: Orphanet:2116 {source="MONDO:equivalentTo", source="OMIM:234500"}
xref: SCTID:124208000 {source="DOID:1060"}
xref: SCTID:80902009 {source="MONDO:equivalentTo", source="DOID:1060"}
xref: UMLS:C0018609 {source="MEDGEN:6723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019216 {source="Orphanet:2116/inferred", source="PMID:33340416"} ! inborn disorder of amino acid transport
relationship: disease_has_basis_in_disruption_of GO:0015171 ! amino acid transmembrane transporter activity
relationship: disease_has_feature HP:0003355 ! Aminoaciduria
relationship: excluded_subClassOf MONDO:0004736 {source="DOID:1060", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid metabolism
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019304-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0015951 {source="Orphanet:2116", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary photodermatosis
relationship: excluded_subClassOf MONDO:0017687 {source="Orphanet:2116", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of neutral amino acid transport
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:2116", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27960 {source="MONDO:mim2gene_medgen"} ! SLC6A19
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease" xsd:anyURI {source="GARD:0006569"}

[Term]
id: MONDO:0009325
name: obsolete deafness-enamel hypoplasia-nail defects syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2857" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100229

[Term]
id: MONDO:0009326
name: congenital heart block
def: "Heart block that occurs on or before 28 days of life." [PMID:22368629]
subset: gard_rare {source="GARD:6164", source="MONDO:GARD"}
subset: mondo_rare {source="PMID:22368629"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1218"}
subset: ordo_disorder {source="Orphanet:60041"}
subset: orphanet_rare {source="Orphanet:60041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital atrioventricular block" EXACT [Orphanet:60041]
synonym: "heart block, congenital" RELATED [GARD:0006164, OMIM:234700]
xref: DOID:990 {source="MONDO:equivalentTo"}
xref: GARD:6164 {source="MONDO:GARD"}
xref: ICD10CM:Q24.6 {source="Orphanet:60041/specific", source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"}
xref: ICD9:746.86 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:990"}
xref: MedDRA:10019263 {source="Orphanet:60041/e", source="Orphanet:60041"}
xref: MEDGEN:57432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535758 {source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"}
xref: NANDO:2200214 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1218 {source="MONDO:NORD"}
xref: OMIM:234700 {source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"}
xref: Orphanet:60041 {source="MONDO:equivalentTo", source="OMIM:234700"}
xref: SCTID:156924006 {source="DOID:990"}
xref: SCTID:204381004 {source="DOID:990"}
xref: SCTID:204382006 {source="DOID:990"}
xref: SCTID:204385008 {source="DOID:990"}
xref: SCTID:46619002 {source="MONDO:equivalentTo", source="DOID:990"}
xref: UMLS:C0149530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57432"}
is_a: MONDO:0000465 {source="DOID:990"} ! atrioventricular block
relationship: excluded_subClassOf MONDO:0015110 {source="Orphanet:60041", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic cardiac rhythm disease
relationship: has_characteristic MONDO:0021136 {source="PMID:22368629"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block" xsd:anyURI {source="GARD:0006164"}

[Term]
id: MONDO:0009327
name: heart, malformation of
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "heart, malformation of" EXACT [OMIM:140500, OMIM:234750]
xref: OMIM:140500 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:234750 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019512 ! congenital heart malformation

[Term]
id: MONDO:0009328
name: hemangiomatosis, cutaneous, with associated features
synonym: "hemangiomatosis, cutaneous, with associated features" EXACT [OMIM:234800]
xref: MEDGEN:67397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562438 {source="MONDO:equivalentTo"}
xref: OMIM:234800 {source="MONDO:equivalentTo"}
xref: UMLS:C0220738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67397"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009329
name: pulmonary venoocclusive disease 2
def: "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." [Orphanet:199241]
subset: gard_rare {source="GARD:15027", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199241"}
subset: orphanet_rare {source="Orphanet:199241"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial pulmonary capillary hemangiomatosis" RELATED [GARD:0008527]
synonym: "hemangiomatosis, familial pulmonary capillary" RELATED [OMIM:234810]
synonym: "pulmonary capillary hemangiomatosis" BROAD [Orphanet:199241]
synonym: "pulmonary venoocclusive disease 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:234810]
synonym: "PVOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234810]
xref: DOID:0081269 {source="MONDO:equivalentTo"}
xref: GARD:15027 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:199241", source="Orphanet:199241/attributed", source="Orphanet:199241/ntbt"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535861 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"}
xref: OMIM:234810 {source="Orphanet:199241", source="MONDO:equivalentTo", source="Orphanet:199241/e"}
xref: Orphanet:199241 {source="MONDO:equivalentTo", source="OMIM:234810", source="https://orcid.org/0000-0001-5208-3432"}
xref: SCTID:233949008 {source="MONDO:equivalentTo"}
xref: UMLS:C0340848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90956"}
is_a: MONDO:0009937 {source="OMIM:234810"} ! pulmonary venoocclusive disease
intersection_of: MONDO:0009937 ! pulmonary venoocclusive disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19687 ! EIF2AK4
relationship: excluded_subClassOf MONDO:0018554 {source="Orphanet:199241", source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19687 {source="MONDO:mim2gene_medgen"} ! EIF2AK4

[Term]
id: MONDO:0009330
name: hemangiopericytoma, malignant
def: "An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone." [NCIT:C4301]
subset: gard_rare {source="GARD:2627", source="MONDO:GARD"}
subset: rare
synonym: "hemangiopericytoma, malignant" EXACT [NCIT:C4301, OMIM:234820]
synonym: "malignant hemangiopericytoma" EXACT [NCIT:C4301]
synonym: "malignant hemangiopericytoma NOS" RELATED EXCLUDE [NCIT:C4301]
xref: GARD:2627 {source="MONDO:GARD"}
xref: ICDO:9150/3 {source="NCIT:C4301"}
xref: MEDGEN:90803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562740 {source="MONDO:equivalentTo"}
xref: NCIT:C4301 {source="MONDO:equivalentTo"}
xref: OMIM:234820 {source="MONDO:equivalentTo"}
xref: Orphanet:2126 {source="OMIM:234820"}
xref: UMLS:C0334542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90803"}
is_a: MONDO:0005094 {source="MESH:C562740", source="NCIT:C4301"} ! hemangiopericytoma
is_a: MONDO:0016238 {source="Orphanet:2126/btnt"} ! solitary fibrous tumor

[Term]
id: MONDO:0009331
name: isolated hemihyperplasia
def: "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma." [Orphanet:2128]
subset: gard_rare {source="GARD:2630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2128"}
subset: ordo_morphological_anomaly {source="Orphanet:2128"}
subset: orphanet_rare {source="Orphanet:2128"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemi 3 syndrome" EXACT [Orphanet:2128]
synonym: "hemi-3 syndrome" RELATED [OMIM:235000]
synonym: "Hemicorporal hypertrophy" EXACT [Orphanet:2128]
synonym: "hemihyperplasia" RELATED [OMIM:235000]
synonym: "hemihyperplasia, isolated" RELATED [MONDO:Lexical, OMIM:235000]
synonym: "hemihypertrophy" EXACT [OMIM:235000, OMIM:genemap2]
synonym: "hemihypertrophy, isolated" RELATED [OMIM:235000]
synonym: "IH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235000]
synonym: "isolated hemihypertrophy" EXACT [Orphanet:2128]
xref: GARD:2630 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:2128", source="Orphanet:2128/attributed", source="Orphanet:2128/ntbt"}
xref: MedDRA:10019463 {source="Orphanet:2128", source="Orphanet:2128/e"}
xref: MEDGEN:383853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565524 {source="MONDO:equivalentTo"}
xref: OMIM:235000 {source="MONDO:equivalentTo", source="Orphanet:2128", source="Orphanet:2128/e"}
xref: Orphanet:2128 {source="OMIM:235000", source="MONDO:equivalentTo"}
xref: UMLS:C1856184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383853"}
is_a: MONDO:0019716 {source="Orphanet:2128"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0015496 {source="Orphanet:2128", source="https://orcid.org/0000-0001-5208-3432"} ! macroglossia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009332
name: congenital hematological disorder
def: "A disorder of the blood that is present at birth." [NCIT:C104003]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital haematological system disease" EXACT OMO:0003005 []
synonym: "congenital hematological disorder" EXACT [NCIT:C104003]
synonym: "congenital hematological system disease" EXACT [MONDO:patterns/congenital]
xref: MEDGEN:760584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C104003 {source="MONDO:equivalentTo"}
xref: UMLS:C3267032 {source="MEDGEN:760584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005570 ! hematologic disorder
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009333
name: mullerian derivatives-lymphangiectasia-polydactyly syndrome
def: "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." [Orphanet:1655]
subset: gard_rare {source="GARD:5430", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1655"}
subset: ordo_malformation_syndrome {source="Orphanet:1655"}
subset: orphanet_rare {source="Orphanet:1655"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly" RELATED [OMIM:235255]
synonym: "Müllerian derivatives-lymphangiectasia-polydactyly syndrome" RELATED [Orphanet:1655]
synonym: "persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly" RELATED [GARD:0005430]
synonym: "renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly" RELATED [GARD:0005430]
synonym: "Urioste syndrome" RELATED [OMIM:235255]
xref: GARD:5430 {source="MONDO:GARD"}
xref: MEDGEN:343489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536478 {source="MONDO:equivalentTo"}
xref: OMIM:235255 {source="MONDO:equivalentTo", source="Orphanet:1655", source="Orphanet:1655/e"}
xref: Orphanet:1655 {source="OMIM:235255", source="MONDO:equivalentTo"}
xref: UMLS:C1856159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343489"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009334
name: hemolytic anemia with thermal sensitivity of red cells
subset: gard_rare {source="GARD:15179", source="MONDO:GARD"}
subset: rare
synonym: "hemolytic anemia with thermal sensitivity of red cells" EXACT [OMIM:235370]
xref: GARD:15179 {source="MONDO:GARD"}
xref: MEDGEN:343488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565522 {source="MONDO:equivalentTo"}
xref: OMIM:235370 {source="MONDO:equivalentTo"}
xref: Orphanet:288 {source="OMIM:235370"}
xref: UMLS:C1856158 {source="MEDGEN:343488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017319 {source="Orphanet:288/btnt"} ! hereditary elliptocytosis

[Term]
id: MONDO:0009335
name: hemolytic uremic syndrome, atypical, susceptibility to, 1
subset: predisposition
synonym: "Ahus, susceptibility to, 1" RELATED [OMIM:235400]
synonym: "AHUS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235400]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to" EXACT [OMIM:235400, OMIM:genemap2]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:235400]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:235400]
synonym: "hemolytic uremic syndrome, typical" RELATED [OMIM:235400]
synonym: "susceptibility to atypical hemolytic uremic syndrome 1" RELATED [OMIM:235400]
xref: MEDGEN:412743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:235400 {source="MONDO:equivalentTo"}
xref: Orphanet:2134 {source="OMIM:235400"}
xref: Orphanet:90038 {source="OMIM:235400"}
xref: Orphanet:93579 {source="OMIM:235400"}
xref: Orphanet:93581 {source="OMIM:235400"}
xref: UMLS:C2749604 {source="MONDO:equivalentTo", source="MEDGEN:412743", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:235400"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0016244 ! atypical hemolytic-uremic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009336
name: hemosiderosis, pulmonary, with deficiency of gamma-a globulin
subset: gard_rare {source="GARD:15180", source="MONDO:GARD"}
subset: rare
synonym: "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" EXACT [OMIM:235500]
xref: GARD:15180 {source="MONDO:GARD"}
xref: OMIM:235500 {source="MONDO:equivalentTo"}
xref: Orphanet:99931 {source="OMIM:235500"}
is_a: MONDO:0008346 {source="Orphanet:99931/btnt"} ! pulmonary hemosiderosis

[Term]
id: MONDO:0009337
name: Hennekam lymphangiectasia-lymphedema syndrome 1
def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCBE1 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome" RELATED [OMIM:235510]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:235510]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 1" EXACT [MONDORULE:1, OMIM:235510]
synonym: "Hennekam syndrome caused by mutation in CCBE1" EXACT [MONDO:design_pattern]
synonym: "HKLLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235510]
synonym: "lymphatic dysplasia, generalised" RELATED OMO:0003005 []
synonym: "lymphatic dysplasia, generalized" RELATED [OMIM:235510]
xref: GARD:15181 {source="MONDO:GARD"}
xref: MEDGEN:860487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:235510 {source="MONDO:equivalentTo"}
xref: Orphanet:2136 {source="OMIM:235510"}
xref: UMLS:C4012050 {source="MONDO:equivalentTo", source="MEDGEN:860487", source="MONDO:MEDGEN"}
is_a: MONDO:0016256 {source="DC-OMIM:235510", source="MONDO:Redundant"} ! Hennekam syndrome
intersection_of: MONDO:0016256 ! Hennekam syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29426 ! CCBE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29426 {source="MONDO:mim2gene_medgen"} ! CCBE1

[Term]
id: MONDO:0009338
name: hepatic veno-occlusive disease-immunodeficiency syndrome
def: "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease." [Orphanet:79124]
subset: gard_rare {source="GARD:10083", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79124"}
subset: orphanet_rare {source="Orphanet:79124"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257]
synonym: "hepatic veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257]
synonym: "hepatic venoocclusive disease with immunodeficiency" RELATED [MONDO:Lexical, OMIM:235550]
synonym: "veno-occlusive disease and immunodeficiency syndrome" RELATED [MESH:C537257]
synonym: "VODI" RELATED ABBREVIATION [GARD:0010083, MESH:C537257, MONDO:Lexical, OMIM:235550]
synonym: "VODI syndrome" EXACT [Orphanet:79124]
xref: DOID:0112254 {source="MONDO:equivalentTo"}
xref: GARD:10083 {source="MONDO:GARD"}
xref: ICD10CM:K76.5 {source="Orphanet:79124/attributed", source="Orphanet:79124/ntbt", source="Orphanet:79124"}
xref: icd11.foundation:712514250 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79124"}
xref: MEDGEN:344659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537257 {source="MONDO:equivalentTo"}
xref: NANDO:1200341 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200714 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:235550 {source="Orphanet:79124/e", source="MONDO:equivalentTo", source="GARD:0010083", source="Orphanet:79124"}
xref: Orphanet:79124 {source="OMIM:235550", source="MONDO:equivalentTo", source="GARD:0010083"}
xref: SCTID:724361001 {source="MONDO:equivalentTo"}
xref: UMLS:C1856128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344659"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:79124"} ! disease
is_a: MONDO:0003778 {source="PMID:20301448", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-5002-8648"} ! inborn error of immunity
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0005154 {source="MONDO:Redundant", source="Orphanet:79124"} ! liver disorder
is_a: MONDO:0019514 {source="MESH:C537257"} ! hepatic veno-occlusive disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113", source="MONDO:0015507"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5401 {source="MONDO:mim2gene_medgen"} ! SP110
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency" xsd:anyURI {source="GARD:0010083"}

[Term]
id: MONDO:0009339
name: congenital bile acid synthesis defect 2
def: "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." [Orphanet:79303]
subset: gard_rare {source="GARD:10045", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79303"}
subset: orphanet_rare {source="Orphanet:79303"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AKR1D1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "BASD2" EXACT ABBREVIATION [Orphanet:79303]
synonym: "bile acid synthesis defect, congenital, 2" RELATED [MONDO:Lexical, OMIM:235555]
synonym: "bile acid synthesis defect, congenital, type 2" EXACT [MONDORULE:1, OMIM:235555]
synonym: "CBAS2" EXACT ABBREVIATION [DOID:0111069, MONDO:Lexical, OMIM:235555]
synonym: "cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency" RELATED [OMIM:235555]
synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [DOID:0111069, Orphanet:79303]
synonym: "congenital bile acid synthesis defect caused by mutation in AKR1D1" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 2" EXACT [DOID:0111069, MONDORULE:1]
synonym: "congenital bile acid synthesis defect, type 2" RELATED [GARD:0010045]
xref: DOID:0111069 {source="MONDO:equivalentTo"}
xref: GARD:10045 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:79303", source="Orphanet:79303/attributed", source="Orphanet:79303/ntbt", source="DOID:0111069"}
xref: MEDGEN:383840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535443 {source="Orphanet:79303", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="DOID:0111069"}
xref: OMIM:235555 {source="Orphanet:79303", source="MONDO:equivalentTo", source="Orphanet:79303/e", source="DOID:0111069"}
xref: Orphanet:79303 {source="MONDO:equivalentTo", source="OMIM:235555", source="DOID:0111069"}
xref: UMLS:C1856127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383840"}
is_a: MONDO:0018841 {source="DC-OMIM:235555", source="DOID:0111069", source="MONDO:Redundant", source="OMIM:235555", source="Orphanet:79303"} ! congenital bile acid synthesis defect
intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/388 ! AKR1D1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/388 {source="MONDO:mim2gene_medgen"} ! AKR1D1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009340
name: non-spherocytic hemolytic anemia due to hexokinase deficiency
def: "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." [GARD:0003672]
subset: gard_rare {source="GARD:3672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90031"}
subset: orphanet_rare {source="Orphanet:90031"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemolytic anaemia due to hexokinase deficiency" EXACT OMO:0003005 []
synonym: "hemolytic anemia due to hexokinase deficiency" EXACT [OMIM:235700, OMIM:genemap2]
synonym: "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" RELATED [OMIM:235700]
synonym: "hexokinase deficiency hemolytic anaemia" RELATED OMO:0003005 []
synonym: "hexokinase deficiency hemolytic anemia" RELATED [GARD:0003672]
synonym: "nonspherocytic hemolytic anaemia due to hexokinase deficiency" RELATED OMO:0003005 []
synonym: "nonspherocytic hemolytic anemia due to hexokinase deficiency" RELATED [GARD:0003672]
xref: GARD:3672 {source="MONDO:GARD"}
xref: ICD10CM:D55.2 {source="Orphanet:90031/inclusion", source="Orphanet:90031", source="Orphanet:90031/ntbt"}
xref: MEDGEN:461693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562995 {source="MONDO:equivalentTo"}
xref: OMIM:235700 {source="Orphanet:90031", source="MONDO:equivalentTo", source="Orphanet:90031/e", source="GARD:0003672"}
xref: Orphanet:90031 {source="MONDO:equivalentTo", source="OMIM:235700", source="GARD:0003672"}
xref: UMLS:C3150343 {source="MONDO:equivalentTo", source="MEDGEN:461693", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="MESH:C562995", source="MONDO:Redundant", source="OMIM:235700"} ! hemolytic anemia
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4922 {source="MONDO:mim2gene_medgen"} ! HK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency" xsd:anyURI {source="GARD:0003672"}

[Term]
id: MONDO:0009341
name: Mowat-Wilson syndrome
def: "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." [Orphanet:2152]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9673", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1456"}
subset: ordo_disorder {source="Orphanet:2152"}
subset: ordo_malformation_syndrome {source="Orphanet:2152"}
subset: orphanet_rare {source="Orphanet:2152"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hirschsprung disease intellectual disability syndrome" EXACT [DOID:0060485]
synonym: "Hirschsprung disease mental retardation syndrome" EXACT DEPRECATED [DOID:0060485]
synonym: "Hirschsprung disease-intellectual disability syndrome" EXACT [OMIM:235730, Orphanet:2152]
synonym: "Hirschsprung disease-mental retardation syndrome" RELATED DEPRECATED [OMIM:235730]
synonym: "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease" RELATED [GARD:0009673]
synonym: "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease" RELATED DEPRECATED [GARD:0009673]
synonym: "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease" EXACT [DOID:0060485]
synonym: "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease" RELATED [OMIM:235730]
synonym: "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT DEPRECATED [DOID:0060485]
synonym: "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" RELATED DEPRECATED [OMIM:235730]
synonym: "Mowat-Wilson syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:235730]
synonym: "MOWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235730]
xref: DOID:0060485 {source="MONDO:equivalentTo"}
xref: GARD:9673 {source="MONDO:GARD"}
xref: ICD10CM:Q43.1 {source="Orphanet:2152/attributed", source="Orphanet:2152/ntbt", source="Orphanet:2152"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:341067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536990 {source="DOID:0060485", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="Orphanet:2152"}
xref: NANDO:1200663 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200981 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C74999 {source="DOID:0060485", source="MONDO:equivalentTo"}
xref: NORD:1456 {source="MONDO:NORD"}
xref: OMIM:235730 {source="DOID:0060485", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="Orphanet:2152"}
xref: Orphanet:2152 {source="DOID:0060485", source="MONDO:equivalentTo", source="OMIM:235730"}
xref: SCTID:703535000 {source="DOID:0060485", source="MONDO:equivalentTo"}
xref: UMLS:C1856113 {source="MONDO:equivalentTo", source="MEDGEN:341067", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2152"} ! syndromic intellectual disability
is_a: MONDO:0002254 {source="DOID:0060485", source="MONDO:Redundant", source="NCIT:C74999"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:2152"} ! monogenic epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14881 {source="MONDO:mim2gene_medgen"} ! ZEB2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome" xsd:anyURI {source="GARD:0009673"}

[Term]
id: MONDO:0009342
name: Hirschsprung disease-hearing loss-polydactyly syndrome
def: "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." [Orphanet:2155]
subset: gard_rare {source="GARD:157", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2155"}
subset: ordo_malformation_syndrome {source="Orphanet:2155"}
subset: orphanet_rare {source="Orphanet:2155"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness" NARROW [GARD:0000157]
synonym: "Hirschsprung disease with polydactyly, renal agenesis, and deafness" NARROW [OMIM:235740]
synonym: "Hirschsprung disease, deafness and polydactyly" NARROW [GARD:0000157]
synonym: "Hirschsprung disease-deafness-polydactyly syndrome" NARROW [Orphanet:2155]
synonym: "Santos Mateus Leal syndrome" RELATED [GARD:0000157]
synonym: "Santos-Mateus-Leal syndrome" EXACT [Orphanet:2155]
xref: GARD:157 {source="MONDO:GARD"}
xref: ICD10CM:Q43.1 {source="Orphanet:2155", source="Orphanet:2155/attributed", source="Orphanet:2155/ntbt"}
xref: MEDGEN:341066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565518 {source="MONDO:equivalentTo"}
xref: OMIM:235740 {source="Orphanet:2155", source="MONDO:equivalentTo", source="Orphanet:2155/e"}
xref: Orphanet:2155 {source="MONDO:equivalentTo", source="OMIM:235740"}
xref: SCTID:721221000 {source="MONDO:equivalentTo"}
xref: UMLS:C1856112 {source="MEDGEN:341066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2155"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021189 {source="Orphanet:2155"} ! intestinal motility disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009343
name: Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect
synonym: "Hirschsprung disease polydactyly heart disease" RELATED [GARD:0002696]
synonym: "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" EXACT [GARD:0002696, OMIM:235750]
xref: MEDGEN:341065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538120 {source="MONDO:equivalentTo"}
xref: MESH:C565517 {source="MONDO:equivalentTo"}
xref: OMIM:235750 {source="GARD:0002696", source="MONDO:equivalentTo"}
xref: UMLS:C1856111 {source="MEDGEN:341065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2696/hirschsprung-disease-polydactyly-heart-disease" xsd:anyURI {source="GARD:0002696"}

[Term]
id: MONDO:0009344
name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
def: "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." [Orphanet:2153]
subset: gard_rare {source="GARD:584", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2153"}
subset: ordo_malformation_syndrome {source="Orphanet:2153"}
subset: orphanet_rare {source="Orphanet:2153"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Al Gazali-Donnai-Muller syndrome" EXACT [Orphanet:2153]
synonym: "Al-Gazali-Donnai-Mueller syndrome" RELATED [GARD:0000584]
synonym: "Hirschsprung disease with hypoplastic nails and dysmorphic facial features" RELATED [OMIM:235760]
synonym: "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" RELATED [GARD:0000584]
xref: GARD:584 {source="MONDO:GARD"}
xref: ICD10CM:Q43.1 {source="Orphanet:2153/attributed", source="Orphanet:2153/ntbt", source="Orphanet:2153"}
xref: MEDGEN:344653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535615 {source="MONDO:equivalentTo"}
xref: OMIM:235760 {source="Orphanet:2153/e", source="MONDO:equivalentTo", source="Orphanet:2153"}
xref: Orphanet:2153 {source="OMIM:235760", source="MONDO:equivalentTo"}
xref: SCTID:721223002 {source="MONDO:equivalentTo"}
xref: UMLS:C1856110 {source="MONDO:equivalentTo", source="MEDGEN:344653", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0021189 {source="Orphanet:2153"} ! intestinal motility disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009345
name: histidinemia
def: "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." [Orphanet:2157]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6661", source="MONDO:GARD"}
subset: mostly_harmless {source="PMID:29884839"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1245"}
subset: ordo_disorder {source="Orphanet:2157"}
subset: orphanet_rare {source="Orphanet:2157"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hal deficiency" EXACT [Orphanet:2157]
synonym: "HIS deficiency" EXACT [Orphanet:2157]
synonym: "histidase deficiency" EXACT [OMIM:235800, Orphanet:2157]
synonym: "histidine ammonia-lyase deficiency" EXACT [OMIM:235800, Orphanet:2157]
synonym: "histidinemia" EXACT CLINGEN_LABEL [OMIM:235800, OMIM:genemap2]
synonym: "Histidinuria" EXACT [Orphanet:2157]
synonym: "histidinuria" EXACT [DOID:0060168]
synonym: "hyperhistidinemia" EXACT [Orphanet:2157]
xref: DOID:0060168 {source="MONDO:equivalentTo"}
xref: GARD:6661 {source="MONDO:GARD"}
xref: ICD10CM:E70.41 {source="MONDO:equivalentTo"}
xref: ICD10CM:E70.8 {source="Orphanet:2157", source="Orphanet:2157/attributed", source="Orphanet:2157/ntbt"}
xref: icd11.foundation:261052955 {source="Orphanet:2157", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:113135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538320 {source="Orphanet:2157", source="MONDO:equivalentTo", source="Orphanet:2157/e"}
xref: NORD:1245 {source="MONDO:NORD"}
xref: OMIM:235800 {source="Orphanet:2157", source="MONDO:equivalentTo", source="Orphanet:2157/e"}
xref: Orphanet:2157 {source="MONDO:equivalentTo", source="OMIM:235800"}
xref: SCTID:410058007 {source="MONDO:equivalentTo"}
xref: UMLS:C0220992 {source="MEDGEN:113135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019228 {source="DOID:0060168", source="PMID:33340416"} ! inborn disorder of histidine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4806 {source="MONDO:mim2gene_medgen"} ! HAL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6661/histidinemia" xsd:anyURI {source="GARD:0006661"}

[Term]
id: MONDO:0009346
name: histidinuria due to a renal tubular defect
subset: gard_rare {source="GARD:2708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2158"}
subset: orphanet_rare {source="Orphanet:2158"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "histidinuria due to a renal tubular defect" EXACT [OMIM:235830]
synonym: "histidinuria-renal tubular defect syndrome" EXACT [Orphanet:2158]
xref: GARD:2708 {source="MONDO:GARD"}
xref: ICD10CM:E70.8 {source="Orphanet:2158", source="Orphanet:Attributed"}
xref: MEDGEN:82825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538321 {source="Orphanet:2158", source="MONDO:equivalentTo"}
xref: OMIM:235830 {source="Orphanet:2158", source="MONDO:equivalentTo"}
xref: Orphanet:2158 {source="MONDO:equivalentTo", source="OMIM:235830"}
xref: UMLS:C0268642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82825"}
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
is_a: MONDO:0019228 {source="Orphanet:2158"} ! inborn disorder of histidine metabolism
intersection_of: MONDO:0009345 ! histidinemia
intersection_of: disease_arises_from_feature MONDO:0021568 ! renal tubule disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009347
name: familial lipochrome histiocytosis
synonym: "histiocytosis, familial lipochrome" RELATED [OMIM:235900]
xref: MEDGEN:90743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562738 {source="MONDO:equivalentTo"}
xref: OMIM:235900 {source="MONDO:equivalentTo"}
xref: SCTID:234577004 {source="MONDO:equivalentTo"}
xref: UMLS:C0334125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90743"}
is_a: MONDO:0003847 {source="MESH:C562738"} ! hereditary disease
is_a: MONDO:0024627 ! phagocytic cell dysfunction

[Term]
id: MONDO:0009348
name: classic Hodgkin lymphoma
def: "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." [Orphanet:391]
subset: gard_rare {source="GARD:16529", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391"}
subset: orphanet_rare {source="Orphanet:391"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chl" RELATED [MONDO:Lexical, OMIM:236000]
synonym: "classic Hodgkin disease" EXACT [Orphanet:391]
synonym: "classical Hodgkin lymphoma" EXACT [NCIT:C7164]
synonym: "classical Hodgkin's lymphoma" EXACT [NCIT:C7164]
synonym: "Hodgkin disease" RELATED [OMIM:236000]
synonym: "Hodgkin lymphoma, susceptibility to" RELATED [OMIM:236000, OMIM:genemap2]
synonym: "lymphoma, Hodgkin, classic" RELATED [MONDO:Lexical, OMIM:236000]
xref: GARD:16529 {source="MONDO:GARD"}
xref: ICD10CM:C81.0 {source="Orphanet:391", source="Orphanet:391/btnt"}
xref: ICD10CM:C81.1 {source="Orphanet:391", source="Orphanet:391/btnt"}
xref: ICD10CM:C81.2 {source="Orphanet:391", source="Orphanet:391/btnt"}
xref: ICD10CM:C81.3 {source="Orphanet:391", source="Orphanet:391/btnt"}
xref: ICD10CM:C81.4 {source="Orphanet:391", source="Orphanet:391/btnt"}
xref: ICD10CM:C81.7 {source="Orphanet:391", source="Orphanet:391/btnt"}
xref: ICD10CM:C81.9 {source="Orphanet:391", source="Orphanet:391/btnt"}
xref: icd11.foundation:1616050398 {source="MONDO:equivalentTo", source="Orphanet:391", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:9283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7164 {source="MONDO:equivalentTo"}
xref: OMIM:236000 {source="MONDO:equivalentTo", source="Orphanet:391", source="Orphanet:391/e"}
xref: ONCOTREE:CHL {source="MONDO:equivalentTo"}
xref: Orphanet:391 {source="OMIM:236000", source="MONDO:equivalentTo"}
xref: UMLS:C0019829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9283"}
is_a: MONDO:0004952 {source="DC-OMIM:236000", source="NCIT:C7164", source="ONCOTREE:CHL", source="Orphanet:391"} ! Hodgkins lymphoma
disjoint_from: MONDO:0044778 ! nodular lymphocyte predominant Hodgkin lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009349
name: holoprosencephaly 1
def: "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." [NCIT:C75476]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_morphological_anomaly {source="Orphanet:268936"}
subset: rare
synonym: "arhinencephaly" RELATED [OMIM:236100]
synonym: "cyclopia" BROAD [OMIM:236100]
synonym: "Demyer sequence" RELATED [OMIM:236100]
synonym: "holoprosencephaly 1" EXACT [MONDO:Lexical, OMIM:236100]
synonym: "holoprosencephaly 1, isolated cases" EXACT [OMIM:236100, OMIM:genemap2]
synonym: "holoprosencephaly type 1" EXACT [DOID:0110881, MONDORULE:1]
synonym: "holoprosencephaly, familial Alobar" RELATED [OMIM:236100]
synonym: "Hpe, familial" BROAD [OMIM:236100]
synonym: "HPE1" EXACT ABBREVIATION [DOID:0110881, MONDO:Lexical, OMIM:236100]
synonym: "isolated arhinencephaly" RELATED [Orphanet:268936]
xref: DOID:0110881 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q04.1 {source="Orphanet:268936/e", source="Orphanet:268936"}
xref: MEDGEN:78617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75476 {source="MONDO:equivalentTo"}
xref: OMIM:236100 {source="MONDO:equivalentTo", source="DOID:0110881"}
xref: Orphanet:2162 {source="OMIM:236100"}
xref: UMLS:C0266667 {source="MEDGEN:78617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016296 {source="DC-OMIM:236100", source="DOID:0110881", source="NCIT:C75476", source="OMIM:236100"} ! holoprosencephaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009350
name: Holzgreve-Wagner-Rehder syndrome
def: "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." [DOID:0060566, PMID:3232694]
subset: gard_rare {source="GARD:2728", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2167"}
subset: ordo_malformation_syndrome {source="Orphanet:2167"}
subset: orphanet_rare {source="Orphanet:2167"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" EXACT [Orphanet:2167]
synonym: "Complex congenital heart defect, renal agenesis and cleft lip and palate" RELATED [GARD:0002728]
synonym: "Holzgreve syndrome" EXACT [DOID:0060566, OMIM:236110]
synonym: "Holzgreve Wagner Rehder syndrome" EXACT [DOID:0060566]
xref: DOID:0060566 {source="MONDO:equivalentTo"}
xref: GARD:2728 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2167/attributed", source="Orphanet:2167/ntbt", source="Orphanet:2167", source="DOID:0060566"}
xref: MEDGEN:344650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535327 {source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"}
xref: OMIM:236110 {source="Orphanet:2167", source="MONDO:equivalentTo", source="DOID:0060566", source="Orphanet:2167/e"}
xref: Orphanet:2167 {source="OMIM:236110", source="MONDO:equivalentTo"}
xref: UMLS:C1856095 {source="MEDGEN:344650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060566"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2167"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0009351
name: homocarnosinosis
def: "Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant." [Orphanet:2168]
subset: gard_rare {source="GARD:2730", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Homocarnosinase deficiency" EXACT [OMIM:236130, Orphanet:2168]
synonym: "homocarnosinosis" EXACT [OMIM:236130]
xref: DOID:0060177 {source="MONDO:equivalentTo"}
xref: GARD:2730 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:2168", source="Orphanet:2168/attributed", source="Orphanet:2168/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535328 {source="Orphanet:2168", source="MONDO:equivalentTo", source="Orphanet:2168/e"}
xref: OMIM:236130 {source="Orphanet:2168", source="MONDO:equivalentTo", source="Orphanet:2168/e"}
xref: Orphanet:2168 {source="OMIM:236130", source="MONDO:equivalentObsolete"}
xref: SCTID:61764000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268632 {source="MEDGEN:75703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000698 {source="DOID:0060177"} ! gamma-amino butyric acid metabolism disorder
is_a: MONDO:0004736 {source="DOID:0060177/inferred", source="MESH:C535328", source="MONDO:Redundant", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019232 {source="Orphanet:2168", source="PMID:33340416"} ! inborn disorder of peptide metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009352
name: classic homocystinuria
def: "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system." [Orphanet:394]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1249"}
subset: ordo_disorder {source="Orphanet:394"}
subset: orphanet_rare {source="Orphanet:394"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CBS deficiency" RELATED [GARD:0006667, OMIM:236200]
synonym: "classic homocystinuria" EXACT CLINGEN_LABEL []
synonym: "cystathionine beta-synthase deficiency" EXACT [GARD:0006667, OMIM:236200, Orphanet:394]
synonym: "homocystinuria due to CBS deficiency" RELATED [GARD:0006667]
synonym: "Homocystinuria due to Cystathionine Beta-Synthase Deficiency" EXACT [NORD:1249]
synonym: "homocystinuria due to cystathionine beta-synthase deficiency" EXACT [GARD:0006667, OMIM:236200, Orphanet:394]
synonym: "homocystinuria with or without response to pyridoxine" RELATED [OMIM:236200]
synonym: "homocystinuria, B6-responsive and nonresponsive types" EXACT [OMIM:236200, OMIM:genemap2]
synonym: "hyperhomocysteinemia, thrombotic, CBS-related" RELATED [OMIM:236200]
synonym: "thrombosis, hyperhomocysteinemic" EXACT [OMIM:236200, OMIM:genemap2]
xref: GARD:6667 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:394/inclusion", source="Orphanet:394/ntbt", source="Orphanet:394"}
xref: MedDRA:10071093 {source="Orphanet:394/e", source="Orphanet:394"}
xref: MEDGEN:199606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201039 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1249 {source="MONDO:NORD"}
xref: OMIM:236200 {source="Orphanet:394/e", source="GARD:0006667", source="MONDO:equivalentTo", source="Orphanet:394"}
xref: Orphanet:394 {source="GARD:0006667", source="OMIM:236200", source="MONDO:equivalentTo"}
xref: SCTID:24308003 {source="MONDO:equivalentTo"}
xref: UMLS:C0751202 {source="MEDGEN:199606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001176 ! lens disorder
is_a: MONDO:0004737 {source="DC-OMIM:236200"} ! homocystinuria
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:394"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019222 {source="Orphanet:394"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1550 {source="MONDO:mim2gene_medgen"} ! CBS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency" xsd:anyURI {source="GARD:0006667"}

[Term]
id: MONDO:0009353
name: homocystinuria due to methylene tetrahydrofolate reductase deficiency
def: "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations." [Orphanet:395]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:395"}
subset: orphanet_rare {source="Orphanet:395"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5,10 alpha methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "5,10-alpha-methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity" RELATED [OMIM:236250]
synonym: "homocystinuria due to methylene tetrahydrofolate reductase deficiency" EXACT CLINGEN_LABEL []
synonym: "homocystinuria due to MTHFR deficiency" RELATED [GARD:0002734]
synonym: "methylene tetrahydrofolate reductase deficiency" EXACT [Orphanet:395]
synonym: "Methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734]
synonym: "methylenetetrahydrofolate reductase deficiency" RELATED [OMIM:236250]
synonym: "MTHFR deficiency" EXACT [OMIM:236250, Orphanet:395]
synonym: "MTHFR deficiency, thermolabile type" RELATED [OMIM:236250]
xref: GARD:2734 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:395/inclusion", source="Orphanet:395", source="Orphanet:395/ntbt"}
xref: MEDGEN:383829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537357 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:1201041 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:236250 {source="Orphanet:395/e", source="MONDO:equivalentTo", source="Orphanet:395"}
xref: Orphanet:395 {source="MONDO:equivalentTo", source="OMIM:236250"}
xref: SCTID:41797007 {source="MONDO:equivalentTo"}
xref: UMLS:C1856058 {source="MONDO:equivalentTo", source="MEDGEN:383829", source="MONDO:MEDGEN"}
is_a: MONDO:0004737 {source="DC-OMIM:236250"} ! homocystinuria
is_a: MONDO:0017313 {source="Orphanet:395"} ! disorder of folate metabolism and transport
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7436 {source="MONDO:mim2gene_medgen"} ! MTHFR

[Term]
id: MONDO:0009354
name: methylcobalamin deficiency type cblE
def: "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." [NCIT:C142173]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3576", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "functional methionine synthase deficiency type cblE" EXACT [Orphanet:2169]
synonym: "HMAE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236270]
synonym: "homocystinuria due to defect in methylation Cbl e" RELATED [GARD:0002732]
synonym: "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type" RELATED OMO:0003005 []
synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type" RELATED [OMIM:236270]
synonym: "homocystinuria-megaloblastic anemia, cbl e type" EXACT [OMIM:236270, OMIM:genemap2]
synonym: "homocystinuria-megaloblastic anemia, cblE complementation type" RELATED [MONDO:Lexical, OMIM:236270]
synonym: "methylcobalamin deficiency type cblE" EXACT CLINGEN_LABEL []
synonym: "methylcobalamin deficiency, cblE type" RELATED [OMIM:236270]
synonym: "methylmalonic aciduria and homocystinuria type cblE" RELATED [DOID:0050732]
synonym: "vitamin B12-responsive homocystinuria, cblE type" RELATED [OMIM:236270]
xref: DOID:0050732 {source="EFO:0005568", source="MONDO:equivalentTo"}
xref: DOID:0112255 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:3576 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:2169/attributed", source="Orphanet:2169/ntbt", source="Orphanet:2169"}
xref: MEDGEN:344640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565510 {source="MONDO:equivalentTo"}
xref: NANDO:2201109 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C142173 {source="MONDO:equivalentTo"}
xref: OMIM:236270 {source="Orphanet:2169", source="MONDO:equivalentTo", source="Orphanet:2169/e"}
xref: Orphanet:2169 {source="MONDO:equivalentTo", source="OMIM:236270"}
xref: Orphanet:622 {source="OMIM:236270"}
xref: UMLS:C1856057 {source="MEDGEN:344640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018964 {source="Orphanet:2169", source="https://orcid.org/0000-0002-6601-2165"} ! homocystinuria without methylmalonic aciduria
relationship: excluded_subClassOf MONDO:0002012 {source="DOID:0050732", source="https://orcid.org/0000-0001-5208-3432"} ! methylmalonic acidemia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:236270", source="Orphanet:2169"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7473 {source="MONDO:mim2gene_medgen"} ! MTRR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009355
name: Hooft disease
synonym: "delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids" RELATED [GARD:0009702]
synonym: "Hooft disease" EXACT [OMIM:236300]
xref: MEDGEN:75686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535329 {source="MONDO:equivalentTo"}
xref: OMIM:236300 {source="MONDO:equivalentTo"}
xref: UMLS:C0268479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75686"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9702/hooft-disease" xsd:anyURI {source="GARD:0009702"}

[Term]
id: MONDO:0009356
name: autosomal recessive humeroradial synostosis
def: "Autosomal recessive form of humeroradial synostosis (disease)." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive humeroradial synostosis (disease)" EXACT []
synonym: "humeroradial synostosis" RELATED [OMIM:236400]
synonym: "humeroradial synostosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "humeroradial/multiple synostosis syndrome" RELATED [OMIM:236400]
xref: MEDGEN:343467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:236400 {source="MONDO:equivalentTo"}
xref: Orphanet:3265 {source="OMIM:236400"}
xref: UMLS:C1856055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343467"}
is_a: MONDO:0007737 {source="DC-OMIM:236400", source="MONDO:Redundant"} ! humeroradial synostosis
intersection_of: MONDO:0007737 ! humeroradial synostosis
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0009357
name: humeroradial synostosis with craniofacial anomalies
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "humeroradial synostosis with craniofacial anomalies" EXACT [OMIM:236410]
xref: MEDGEN:369834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566888 {source="MONDO:equivalentTo"}
xref: OMIM:236410 {source="MONDO:equivalentTo"}
xref: UMLS:C1968717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369834"}
is_a: MONDO:0007737 {source="https://orcid.org/0000-0002-6601-2165"} ! humeroradial synostosis

[Term]
id: MONDO:0009358
name: Hutterite cerebroosteonephrodysplasia syndrome
synonym: "cerebroosteonephosis syndrome" RELATED [OMIM:236450]
synonym: "cond" RELATED [OMIM:236450]
synonym: "Hutterite cerebroosteonephrodysplasia syndrome" EXACT [OMIM:236450]
xref: MEDGEN:343466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536074 {source="MONDO:equivalentTo"}
xref: OMIM:236450 {source="MONDO:equivalentTo"}
xref: UMLS:C1856054 {source="MEDGEN:343466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9956/hutterite-cerebroosteonephrodysplasia-syndrome" xsd:anyURI {source="GARD:0009956"}

[Term]
id: MONDO:0009359
name: multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
subset: gard_rare {source="GARD:17922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500135"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:500135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydranencephaly with renal aplasia-dysplasia" EXACT [OMIM:236500]
synonym: "MARCH" RELATED ABBREVIATION [OMIM:236500]
synonym: "MARCH syndrome" EXACT [Orphanet:500135]
synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly" RELATED [OMIM:236500]
synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" RELATED [OMIM:236500]
xref: DOID:0080327 {source="MONDO:equivalentTo"}
xref: GARD:17922 {source="MONDO:GARD"}
xref: MEDGEN:343465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565507 {source="MONDO:equivalentTo"}
xref: OMIM:236500 {source="Orphanet:500135", source="MONDO:equivalentTo", source="DOID:0080327"}
xref: Orphanet:500135 {source="MONDO:equivalentTo"}
xref: UMLS:C1856053 {source="MONDO:equivalentTo", source="MEDGEN:343465", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0080327"} ! syndromic disease
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0006025 {source="DOID:0080327"} ! autosomal recessive disease
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:500135"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1161 {source="MONDO:mim2gene_medgen"} ! CEP55

[Term]
id: MONDO:0009360
name: hydrocephalus, nonsyndromic, autosomal recessive 1
def: "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCDC88C congenital hydrocephalus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital hydrocephalus caused by mutation in CCDC88C" EXACT [MONDO:design_pattern]
synonym: "HYC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236600]
synonym: "hydrocephalus, congenital, 1" EXACT [OMIM:236600, OMIM:genemap2]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:236600]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:236600]
synonym: "hydrocephaly" RELATED [OMIM:236600]
synonym: "ventriculomegaly" RELATED [OMIM:236600]
xref: MEDGEN:854455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:236600 {source="MONDO:equivalentTo"}
xref: Orphanet:2185 {source="OMIM:236600"}
xref: UMLS:C3887608 {source="MEDGEN:854455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016349 {source="MONDO:Redundant", source="Orphanet:2185/btnt"} ! congenital hydrocephalus
intersection_of: MONDO:0016349 ! congenital hydrocephalus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19967 ! CCDC88C
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19967 {source="MONDO:mim2gene_medgen"} ! CCDC88C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009361
name: autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aqueductal stenosis" RELATED [OMIM:236635]
synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" EXACT [OMIM:236635]
xref: MEDGEN:608953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:236635 {source="MONDO:equivalentTo"}
xref: UMLS:C0431355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:608953"}
is_a: MONDO:0016349 ! congenital hydrocephalus
relationship: disease_arises_from_feature HP:0002410 ! Aqueductal stenosis
relationship: excluded_subClassOf MONDO:0010611 {source="https://orcid.org/0000-0001-5208-3432"} ! X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0009362
name: growth delay-hydrocephaly-lung hypoplasia syndrome
def: "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." [Orphanet:3035]
subset: gard_rare {source="GARD:2427", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3035"}
subset: ordo_malformation_syndrome {source="Orphanet:3035"}
subset: orphanet_rare {source="Orphanet:3035"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "game Friedman Paradice syndrome" RELATED [GARD:0002427]
synonym: "game-Friedman-Paradice syndrome" EXACT [Orphanet:3035]
synonym: "hydrocephalus with associated malformations" RELATED [OMIM:236640]
synonym: "retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" RELATED [GARD:0002427]
xref: GARD:2427 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3035", source="Orphanet:3035/attributed", source="Orphanet:3035/ntbt"}
xref: MEDGEN:344639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535406 {source="MONDO:equivalentTo"}
xref: OMIM:236640 {source="Orphanet:3035", source="MONDO:equivalentTo", source="Orphanet:3035/e"}
xref: Orphanet:3035 {source="OMIM:236640", source="MONDO:equivalentTo"}
xref: SCTID:716198008 {source="MONDO:equivalentTo"}
xref: UMLS:C1856052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344639"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005087 {source="Orphanet:3035", source="Orphanet:3035/inferred"} ! respiratory system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009363
name: hydrocephaly-tall stature-joint laxity syndrome
def: "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." [Orphanet:2181]
subset: gard_rare {source="GARD:1666", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2181"}
subset: ordo_malformation_syndrome {source="Orphanet:2181"}
subset: orphanet_rare {source="Orphanet:2181"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Daish Hardman Lamont syndrome" RELATED [GARD:0001666]
synonym: "Daish-Hardman-Lamont syndrome" EXACT [Orphanet:2181]
synonym: "hydrocephalus, tall stature, joint laxity and kyphoscoliosis" RELATED [GARD:0001666]
synonym: "hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis" RELATED [OMIM:236660]
synonym: "hydrocephaly - tall stature - joint laxity" RELATED [GARD:0001666]
xref: GARD:1666 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2181/attributed", source="Orphanet:2181/ntbt", source="Orphanet:2181"}
xref: MEDGEN:383828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535770 {source="MONDO:equivalentTo"}
xref: OMIM:236660 {source="Orphanet:2181/e", source="MONDO:equivalentTo", source="Orphanet:2181"}
xref: Orphanet:2181 {source="OMIM:236660", source="MONDO:equivalentTo"}
xref: SCTID:732926009 {source="MONDO:equivalentTo"}
xref: UMLS:C1856051 {source="MEDGEN:383828", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2181"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2181", source="Orphanet:2181/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0009364
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
def: "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." [NCIT:C128118]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" RELATED [OMIM:236670]
synonym: "cod-MD syndrome" RELATED [OMIM:236670]
synonym: "hard syndrome" RELATED [OMIM:236670]
synonym: "hydrocephalus, agyria, and retinal dysplasia" RELATED [OMIM:236670]
synonym: "MDDGA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236670]
synonym: "muscle-eye-brain-POMT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1" EXACT [NCIT:C128118]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" RELATED [MONDO:Lexical, OMIM:236670]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related" RELATED [OMIM:236670]
xref: DOID:0111237 {source="MONDO:equivalentTo"}
xref: MEDGEN:924974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128118 {source="MONDO:equivalentTo"}
xref: OMIM:236670 {source="MONDO:equivalentTo"}
xref: Orphanet:588 {source="OMIM:236670", source="MONDO:relatedTo"}
xref: Orphanet:899 {source="OMIM:236670", source="MONDO:relatedTo", source="MONDO:directSiblingOf"}
xref: UMLS:C4284790 {source="MEDGEN:924974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000171 {source="DC-OMIM:236670", source="OMIM:236670"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 {source="https://orcid.org/0000-0001-6330-7526"} ! muscle-eye-brain disease
is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C128118"} ! muscular dystrophy
is_a: MONDO:0700070 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7072" xsd:anyURI

[Term]
id: MONDO:0009365
name: hydrolethalus syndrome 1
def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236680]
synonym: "hydrolethalus syndrome" BROAD [OMIM:236680, OMIM:genemap2]
synonym: "hydrolethalus syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:236680]
synonym: "hydrolethalus syndrome caused by mutation in HYLS1" EXACT [MONDO:design_pattern]
synonym: "hydrolethalus syndrome type 1" EXACT [MONDORULE:1, OMIM:236680]
synonym: "HYLS1 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111355 {source="MONDO:equivalentTo"}
xref: GARD:15182 {source="MONDO:GARD"}
xref: MEDGEN:343455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565504 {source="MONDO:equivalentTo"}
xref: OMIM:236680 {source="MONDO:equivalentTo"}
xref: Orphanet:2189 {source="OMIM:236680"}
xref: UMLS:C1856016 {source="MEDGEN:343455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006037 {source="DC-OMIM:236680", source="MONDO:Redundant", source="OMIM:236680"} ! hydrolethalus syndrome
intersection_of: MONDO:0006037 ! hydrolethalus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26558 ! HYLS1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:236680"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26558 {source="MONDO:mim2gene_medgen"} ! HYLS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009366
name: normal pressure hydrocephalus
def: "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" [MESH:D006850]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "chronic adult hydrocephalus" EXACT [Orphanet:314928]
synonym: "hydrocephalus, normal pressure, 1" EXACT [OMIM:236690, OMIM:genemap2]
synonym: "hydrocephalus, normal-pressure" RELATED [OMIM:236690]
synonym: "low pressure hydrocephalus" EXACT [DOID:1572]
synonym: "NPH" EXACT ABBREVIATION [Orphanet:314928]
xref: DOID:1572 {source="EFO:1001065", source="MONDO:equivalentTo"}
xref: EFO:1001065 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G91.2 {source="Orphanet:314928/e", source="DOID:1572", source="Orphanet:314928"}
xref: ICD9:331.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10029773 {source="Orphanet:314928/e", source="EFO:1001065", source="Orphanet:314928"}
xref: MEDGEN:42526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006850 {source="DOID:1572", source="EFO:1001065", source="MONDO:equivalentTo"}
xref: OMIM:236690 {source="DOID:1572", source="MONDO:equivalentTo"}
xref: Orphanet:314928 {source="MONDO:equivalentObsolete"}
xref: SCTID:30753002 {source="DOID:1572", source="EFO:1001065", source="MONDO:equivalentTo"}
xref: SCTID:69663004 {source="DOID:1572"}
xref: UMLS:C0020258 {source="MEDGEN:42526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002045 {source="DOID:1572"} ! communicating hydrocephalus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009367
name: McKusick-Kaufman syndrome
def: "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." [Orphanet:2473]
subset: gard_rare {source="GARD:3427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2473"}
subset: ordo_malformation_syndrome {source="Orphanet:2473"}
subset: orphanet_rare {source="Orphanet:2473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HMCS" RELATED ABBREVIATION [GARD:0003427]
synonym: "hydrometrocolpos syndrome" RELATED [OMIM:236700]
synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" RELATED [OMIM:236700]
synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT [Orphanet:2473]
synonym: "Kaufman McKusick syndrome" RELATED [GARD:0003427]
synonym: "Kaufman-Mckusick syndrome" EXACT [OMIM:236700, Orphanet:2473]
synonym: "McKusick Kaufman syndrome" RELATED [GARD:0003427]
synonym: "MCKUSICK-Kaufman syndrome" RELATED [OMIM:236700]
synonym: "McKusick-Kaufman syndrome" EXACT [MONDO:Lexical, OMIM:236700]
synonym: "MKKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236700]
xref: DOID:0111255 {source="MONDO:equivalentTo"}
xref: GARD:3427 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2473", source="Orphanet:2473/attributed", source="Orphanet:2473/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10052312 {source="Orphanet:2473", source="Orphanet:2473/e"}
xref: MEDGEN:184924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538159 {source="Orphanet:2473", source="MONDO:equivalentTo", source="Orphanet:2473/e"}
xref: OMIM:236700 {source="Orphanet:2473", source="MONDO:equivalentTo", source="Orphanet:2473/e"}
xref: Orphanet:2473 {source="MONDO:equivalentTo", source="OMIM:236700"}
xref: SCTID:702407009 {source="MONDO:equivalentTo"}
xref: UMLS:C0948368 {source="MEDGEN:184924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2473"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2473", source="Orphanet:2473/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7108 {source="MONDO:mim2gene_medgen"} ! MKKS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome" xsd:anyURI {source="GARD:0003427"}

[Term]
id: MONDO:0009368
name: urofacial syndrome type 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "facial palsy, partial, with urinary abnormalities" RELATED [OMIM:236730]
synonym: "hydronephrosis with peculiar Facial expression" RELATED [OMIM:236730]
synonym: "inverted smile and occult neuropathic bladder" RELATED [OMIM:236730]
synonym: "Ochoa syndrome" RELATED [OMIM:236730]
synonym: "UFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236730]
synonym: "urofacial syndrome" RELATED [OMIM:236730]
synonym: "urofacial syndrome 1" RELATED [MONDO:Lexical, OMIM:236730]
synonym: "urofacial syndrome type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:236730]
xref: OMIM:236730 {source="MONDO:equivalentTo", source="Orphanet:2704"}
is_a: MONDO:0000463 {source="DC-OMIM:236730", source="OMIM:236730"} ! Ochoa syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:236730"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18374 {source="MONDO:mim2gene_medgen"} ! HPSE2

[Term]
id: MONDO:0009369
name: non-immune hydrops fetalis
def: "Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." [Orphanet:363999]
subset: gard_rare {source="GARD:17580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:363999"}
subset: rare
synonym: "Haemoglobin H hydrops fetalis syndrome" RELATED OMO:0003005 []
synonym: "Hemoglobin H hydrops fetalis syndrome" RELATED [OMIM:236750]
synonym: "hydrops fetalis, Alpha-thalassemia-related" RELATED [OMIM:236750]
synonym: "hydrops fetalis, nonimmune" RELATED [MONDO:Lexical, OMIM:236750]
synonym: "NIHF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236750]
synonym: "non-immune fetal edema" EXACT [Orphanet:363999]
synonym: "non-immune fetal hydrops" EXACT [Orphanet:363999]
synonym: "non-immune foetal hydrops" EXACT OMO:0003005 []
synonym: "non-immune foetal oedema" EXACT OMO:0003005 []
synonym: "non-immune HF" EXACT [Orphanet:363999]
xref: GARD:17580 {source="MONDO:GARD"}
xref: ICD10CM:P56.9 {source="Orphanet:363999", source="Orphanet:363999/btnt"}
xref: ICD10CM:P83.2 {source="Orphanet:363999", source="Orphanet:363999/btnt"}
xref: icd11.foundation:1182287637 {source="MONDO:equivalentTo", source="Orphanet:363999", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:778.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:105327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111905 {source="MONDO:equivalentTo"}
xref: OMIM:236750 {source="Orphanet:363999/e", source="MONDO:equivalentTo", source="Orphanet:363999"}
xref: Orphanet:1041 {source="OMIM:236750"}
xref: Orphanet:163596 {source="OMIM:236750"}
xref: Orphanet:363999 {source="OMIM:236750", source="MONDO:equivalentTo"}
xref: SCTID:276509008 {source="MONDO:equivalentTo"}
xref: UMLS:C0455988 {source="MEDGEN:105327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015193 {source="NCIT:C111905", source="Orphanet:363999"} ! hydrops fetalis

[Term]
id: MONDO:0009370
name: L-2-hydroxyglutaric aciduria
def: "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." [Orphanet:79314]
subset: gard_rare {source="GARD:10472", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79314"}
subset: orphanet_rare {source="Orphanet:79314"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "L-2-HGA" EXACT [Orphanet:79314]
synonym: "L-2-hydroxyglutaric acidemia" EXACT [DOID:0050574, OMIM:236792, Orphanet:79314]
synonym: "L-2-hydroxyglutaric aciduria" EXACT [MONDO:Lexical, OMIM:236792]
synonym: "L2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236792]
xref: DOID:0050574 {source="MONDO:equivalentTo"}
xref: GARD:10472 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:79314", source="Orphanet:79314/attributed", source="Orphanet:79314/ntbt"}
xref: MEDGEN:341029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:236792 {source="Orphanet:79314", source="DOID:0050574", source="MONDO:equivalentTo", source="Orphanet:79314/e"}
xref: Orphanet:79314 {source="OMIM:236792", source="MONDO:equivalentTo"}
xref: SCTID:237961001 {source="MONDO:equivalentTo"}
xref: UMLS:C1855995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341029"}
is_a: MONDO:0016001 {source="DOID:0050574", source="Orphanet:79314"} ! 2-hydroxyglutaric aciduria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20499 {source="MONDO:mim2gene_medgen"} ! L2HGDH
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria" xsd:anyURI {source="GARD:0010472"}

[Term]
id: MONDO:0009371
name: 3-hydroxyisobutyric aciduria
def: "3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive." [Orphanet:939]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:939"}
subset: orphanet_rare {source="Orphanet:939"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-hydroxyisobutyric aciduria" EXACT [OMIM:236795]
synonym: "disorder of valine metabolism" RELATED [GARD:0005662]
xref: GARD:5662 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:939", source="Orphanet:939/attributed", source="Orphanet:939/ntbt"}
xref: ICD9:791.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535312 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"}
xref: OMIM:236795 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"}
xref: Orphanet:939 {source="OMIM:236795", source="MONDO:equivalentTo"}
xref: SCTID:237957007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90996"}
is_a: MONDO:0019215 {source="Orphanet:939"} ! classic organic aciduria
relationship: disease_has_basis_in_disruption_of GO:0006573 ! valine metabolic process
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria" xsd:anyURI {source="GARD:0005662"}

[Term]
id: MONDO:0009372
name: encephalopathy due to hydroxykynureninuria
def: "Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." [Orphanet:79155]
subset: gard_rare {source="GARD:10039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79155"}
subset: orphanet_rare {source="Orphanet:79155"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydroxykynureninuria" RELATED [OMIM:236800]
synonym: "kynureninase deficiency" EXACT [OMIM:236800, Orphanet:79155]
synonym: "kynureninase deficiency, partial" RELATED [OMIM:236800]
synonym: "Xanthurenic aciduria" EXACT [OMIM:236800, Orphanet:79155]
xref: DOID:0112257 {source="MONDO:equivalentTo"}
xref: GARD:10039 {source="MONDO:GARD"}
xref: ICD10CM:E70.8 {source="Orphanet:79155", source="Orphanet:79155/attributed", source="Orphanet:79155/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536081 {source="MONDO:equivalentTo"}
xref: OMIM:236800 {source="Orphanet:79155/e", source="MONDO:equivalentTo", source="Orphanet:79155"}
xref: Orphanet:79155 {source="MONDO:equivalentTo", source="OMIM:236800"}
xref: SCTID:72945002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268474 {source="MEDGEN:78681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017350 {source="Orphanet:79155"} ! inborn disorder of tryptophan metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6469 {source="MONDO:mim2gene_medgen"} ! KYNU

[Term]
id: MONDO:0009373
name: seizures-intellectual disability due to hydroxylysinuria syndrome
def: "Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient." [Orphanet:79156]
subset: gard_rare {source="GARD:16709", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79156"}
subset: orphanet_rare {source="Orphanet:79156"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydroxylysinuria" RELATED [OMIM:236900]
xref: GARD:16709 {source="MONDO:GARD"}
xref: ICD10CM:E72.3 {source="Orphanet:79156/attributed", source="Orphanet:79156/ntbt", source="Orphanet:79156"}
xref: MEDGEN:343450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565502 {source="MONDO:equivalentTo"}
xref: OMIM:236900 {source="Orphanet:79156/e", source="MONDO:equivalentTo", source="Orphanet:79156"}
xref: Orphanet:79156 {source="MONDO:equivalentTo", source="OMIM:236900"}
xref: UMLS:C1855986 {source="MEDGEN:343450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017351 {source="Orphanet:79156"} ! inborn disorder of lysine and hydroxylysine metabolism

[Term]
id: MONDO:0009374
name: hydroxyprolinemia
subset: clingen {source="MONDO:CLINGEN"}
subset: mostly_harmless {source="PMID:29884839"}
subset: otar {source="MONDO:OTAR"}
synonym: "4 alpha hydroxy-L-proline oxidase deficiency" RELATED [GARD:0010717]
synonym: "4-hydroxy-L-proline oxidase deficiency" RELATED [OMIM:237000]
synonym: "HYDROXYPROLINEMIA" RELATED ABBREVIATION [OMIM:237000]
synonym: "Hydroxyprolinemia" EXACT [MONDO:ambiguous]
synonym: "hydroxyprolinemia" EXACT CLINGEN_LABEL []
synonym: "hydroxyprolinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0003260 {source="MONDO:otherHierarchy"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562669 {source="MONDO:equivalentTo"}
xref: OMIM:237000 {source="MONDO:equivalentTo"}
xref: SCTID:25739007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75691"}
is_a: MONDO:0003847 {source="MESH:C562669/inferred"} ! hereditary disease
property_value: IAO:0000589 "hydroxyprolinemia (disease)" xsd:string

[Term]
id: MONDO:0009375
name: hymen, imperforate
synonym: "hymen, imperforate" EXACT [OMIM:237100]
xref: ICD10CM:Q52.3 {source="MONDO:equivalentTo"}
xref: ICD9:752.42 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562397 {source="MONDO:equivalentTo"}
xref: OMIM:237100 {source="MONDO:equivalentTo"}
xref: SCTID:65937002 {source="MONDO:equivalentTo"}
xref: UMLS:C0152436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57775"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009376
name: carbamoyl phosphate synthetase I deficiency disease
def: "Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia." [Orphanet:147]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7269", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:147"}
subset: orphanet_rare {source="Orphanet:147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbamoyl phosphate synthetase 1 deficiency" RELATED [OMIM:237300]
synonym: "carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to" RELATED [OMIM:237300]
synonym: "carbamoyl phosphate synthetase deficiency" EXACT [NCIT:C84612]
synonym: "carbamoyl phosphate synthetase I deficiency disease" EXACT CLINGEN_LABEL []
synonym: "carbamoyl phosphate synthetase I deficiency, hyperammonemia due to" RELATED [OMIM:237300]
synonym: "carbamoyl-phosphate synthase deficiency disease" EXACT [NCIT:C84612]
synonym: "carbamoyl-phosphate synthetase 1 deficiency" RELATED [Orphanet:147]
synonym: "carbamoyl-phosphate synthetase deficiency" EXACT [Orphanet:147]
synonym: "carbamoyl-phosphate synthetase I deficiency" EXACT [Orphanet:147]
synonym: "carbamoylphosphate synthetase I deficiency" EXACT [OMIM:237300, OMIM:genemap2]
synonym: "carbamyl phosphate synthetase (CPS) deficiency" RELATED [GARD:0007269]
synonym: "CPS 1 deficiency" RELATED [OMIM:237300]
synonym: "CPS I deficiency" EXACT [DOID:9280]
synonym: "CPS1 deficiency" EXACT [Orphanet:147]
synonym: "CPS1D" EXACT ABBREVIATION [Orphanet:147]
synonym: "hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency" RELATED [GARD:0007269]
xref: DOID:9280 {source="EFO:0007193", source="MONDO:equivalentTo"}
xref: EFO:0007193 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7269 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:147", source="Orphanet:147/attributed", source="Orphanet:147/ntbt"}
xref: icd11.foundation:327894003 {source="Orphanet:147", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10058297 {source="Orphanet:147", source="Orphanet:147/e"}
xref: MEDGEN:907954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020165 {source="DOID:9280", source="EFO:0007193", source="MONDO:equivalentTo"}
xref: NANDO:1200803 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200478 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84612 {source="DOID:9280", source="MONDO:equivalentTo"}
xref: OMIM:237300 {source="Orphanet:147", source="DOID:9280", source="MONDO:equivalentTo", source="Orphanet:147/e"}
xref: Orphanet:147 {source="OMIM:237300", source="MONDO:equivalentTo"}
xref: SCTID:62522004 {source="DOID:9280", source="MONDO:equivalentTo"}
xref: UMLS:C4082171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907954"}
is_a: MONDO:0004739 {source="MESH:D020165", source="MONDO:Redundant", source="NCIT:C84612", source="Orphanet:147"} ! urea cycle disorder
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2323 {source="MONDO:mim2gene_medgen"} ! CPS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009377
name: hyperammonemia due to N-acetylglutamate synthase deficiency
def: "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." [Orphanet:927]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:927"}
subset: orphanet_rare {source="Orphanet:927"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT CLINGEN_LABEL []
synonym: "hyperammonemia due to N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310]
synonym: "N-acetyl glutamate synthetase deficiency" RELATED [GARD:0007158]
synonym: "N-acetylglutamate synthase deficiency" RELATED [MONDO:Lexical, OMIM:237310]
synonym: "N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310]
synonym: "NAG synthetase deficiency" RELATED [GARD:0007158]
synonym: "NAGS deficiency" EXACT [Orphanet:927]
synonym: "Nags deficiency" RELATED [OMIM:237310]
synonym: "NAGSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237310]
xref: DOID:0112258 {source="MONDO:equivalentTo"}
xref: GARD:7158 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:927/attributed", source="Orphanet:927/ntbt", source="Orphanet:927"}
xref: MEDGEN:120649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536109 {source="MONDO:equivalentTo"}
xref: NANDO:1200808 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200477 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201084 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129307 {source="MONDO:equivalentTo"}
xref: OMIM:237310 {source="Orphanet:927/e", source="MONDO:equivalentTo", source="Orphanet:927"}
xref: Orphanet:927 {source="OMIM:237310", source="MONDO:equivalentTo"}
xref: SCTID:57119000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268543 {source="MEDGEN:120649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004739 {source="Orphanet:927"} ! urea cycle disorder
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17996 {source="MONDO:mim2gene_medgen"} ! NAGS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009378
name: hyper-beta-alaninemia
def: "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case." [GARD:0010267]
subset: gard_rare {source="GARD:10267", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:309147"}
subset: orphanet_rare {source="Orphanet:309147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyper-beta-alaninemia" EXACT [GARD:0010267, OMIM:237400]
synonym: "hyperalaninemia" EXACT [GARD:0010267, OMIM:237400, Orphanet:309147]
synonym: "hyperbetaalaninemia" RELATED [GARD:0010267]
xref: GARD:10267 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:309147/attributed", source="Orphanet:309147/ntbt", source="Orphanet:309147"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562684 {source="MONDO:equivalentTo"}
xref: OMIM:237400 {source="Orphanet:309147/e", source="GARD:0010267", source="MONDO:equivalentTo", source="Orphanet:309147"}
xref: Orphanet:309147 {source="GARD:0010267", source="OMIM:237400", source="MONDO:equivalentTo"}
xref: SCTID:2359002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268630 {source="MEDGEN:75702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019238 {source="Orphanet:309147"} ! inborn disorder of pyrimidine metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia" xsd:anyURI {source="GARD:0010267"}

[Term]
id: MONDO:0009379
name: Rotor syndrome
def: "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." [Orphanet:3111]
subset: gard_rare {source="GARD:218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3111"}
subset: orphanet_rare {source="Orphanet:3111"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HBLRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237450]
synonym: "hyperbilirubinemia, ROTOR type" RELATED [MONDO:Lexical, OMIM:237450]
synonym: "hyperbilirubinemia, Rotor type" EXACT [Orphanet:3111]
synonym: "hyperbilirubinemia, rotor type, digenic" EXACT [OMIM:237450, OMIM:genemap2]
synonym: "Rotor syndrome" EXACT [OMIM:237450]
synonym: "Rotor-type hyperbilirubinemia" RELATED [GARD:0000218]
xref: GARD:218 {source="MONDO:GARD"}
xref: ICD10CM:E80.6 {source="Orphanet:3111", source="Orphanet:3111/attributed", source="Orphanet:3111/ntbt"}
xref: MedDRA:10039234 {source="Orphanet:3111", source="Orphanet:3111/e"}
xref: MEDGEN:67435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:237450 {source="Orphanet:3111", source="MONDO:equivalentTo", source="Orphanet:3111/e"}
xref: Orphanet:3111 {source="OMIM:237450", source="MONDO:equivalentTo"}
xref: SCTID:32891000 {source="MONDO:equivalentTo"}
xref: UMLS:C0220991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67435"}
is_a: MONDO:0002408 {source="DC-OMIM:237450", source="OMIM:237450"} ! hereditary hyperbilirubinemia
is_a: MONDO:0005066 {source="Orphanet:3111"} ! metabolic disease
is_a: MONDO:0017755 {source="MONDO:Redundant", source="Orphanet:3111"} ! inborn disorder of bilirubin metabolism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome" xsd:anyURI {source="GARD:0000218"}

[Term]
id: MONDO:0009380
name: Dubin-Johnson syndrome
def: "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." [Orphanet:234]
subset: gard_rare {source="GARD:2793", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1063", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:234"}
subset: orphanet_rare {source="Orphanet:234"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic idiopathic jaundice" EXACT [DOID:12308]
synonym: "conjugated hyperbilirubinemia" RELATED [GARD:0006289]
synonym: "DJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237500]
synonym: "Dubin Johnson Syndrome" EXACT [NORD:1063]
synonym: "Dubin Johnson syndrome" EXACT [DOID:12308]
synonym: "Dubin-Johnson syndrome" EXACT [MONDO:Lexical, OMIM:237500]
synonym: "Dubin-Sprinz disease" EXACT [Orphanet:234]
synonym: "hyperbilirubinemia 2" RELATED [OMIM:237500]
synonym: "hyperbilirubinemia type 2" EXACT [Orphanet:234]
synonym: "hyperbilirubinemia, Dubin-Johnson type" RELATED [OMIM:237500]
synonym: "Sprinz-Nelson syndrome" EXACT [Orphanet:234]
xref: DOID:12308 {source="MONDO:equivalentTo"}
xref: GARD:2793 {source="MONDO:GARD"}
xref: ICD10CM:E80.6 {source="DOID:12308", source="Orphanet:234/attributed", source="Orphanet:234/ntbt", source="Orphanet:234"}
xref: icd11.foundation:1691610999 {source="MONDO:equivalentTo", source="Orphanet:234"}
xref: MedDRA:10013800 {source="Orphanet:234/e", source="Orphanet:234"}
xref: MEDGEN:7181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007566 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="Orphanet:234"}
xref: NCIT:C34741 {source="DOID:12308", source="MONDO:equivalentTo"}
xref: NORD:1063 {source="MONDO:NORD"}
xref: OMIM:237500 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="Orphanet:234"}
xref: Orphanet:234 {source="MONDO:equivalentTo", source="OMIM:237500"}
xref: SCTID:44553005 {source="DOID:12308", source="MONDO:equivalentTo"}
xref: UMLS:C0022350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7181"}
is_a: MONDO:0002254 {source="NCIT:C34741"} ! syndromic disease
is_a: MONDO:0002408 {source="DC-OMIM:237500", source="DOID:12308", source="MESH:D007566", source="OMIM:237500"} ! hereditary hyperbilirubinemia
is_a: MONDO:0005066 {source="Orphanet:234"} ! metabolic disease
is_a: MONDO:0017755 {source="MONDO:Redundant", source="Orphanet:234"} ! inborn disorder of bilirubin metabolism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/53 {source="MONDO:mim2gene_medgen"} ! ABCC2

[Term]
id: MONDO:0009381
name: hyperbilirubinemia, conjugated, type 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hyperbilirubinemia, conjugated, type III" RELATED [OMIM:237550]
xref: MEDGEN:98323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562885 {source="MONDO:equivalentTo"}
xref: OMIM:237550 {source="MONDO:equivalentTo"}
xref: SCTID:235906009 {source="MONDO:equivalentTo"}
xref: UMLS:C0400964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98323"}
is_a: MONDO:0002408 {source="DC-OMIM:237550", source="MESH:C562885"} ! hereditary hyperbilirubinemia

[Term]
id: MONDO:0009382
name: hyperbilirubinemia, shunt, primary
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hyperbilirubinemia, shunt, primary" EXACT [MONDO:Lexical, OMIM:237800]
synonym: "PSHB" EXACT ABBREVIATION [MONDO:Lexical, OMIM:237800]
xref: MEDGEN:763312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:237800 {source="MONDO:equivalentTo"}
xref: UMLS:C3550398 {source="MEDGEN:763312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002408 {source="DC-OMIM:237800"} ! hereditary hyperbilirubinemia

[Term]
id: MONDO:0009383
name: transient familial neonatal hyperbilirubinemia
subset: gard_rare {source="GARD:2791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2312"}
subset: orphanet_rare {source="Orphanet:2312"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast milk jaundice" RELATED [OMIM:237900]
synonym: "HBLRTFN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237900]
synonym: "hyperbilirubinemia transient familial neonatal" RELATED [GARD:0002791]
synonym: "hyperbilirubinemia, familial transient neonatal" EXACT [OMIM:237900, OMIM:genemap2]
synonym: "hyperbilirubinemia, transient familial neonatal" RELATED [MONDO:Lexical, OMIM:237900]
synonym: "Lucey-Driscoll syndrome" EXACT [OMIM:237900, Orphanet:2312]
synonym: "transient familial hyperbilirubinemia" RELATED [GARD:0003304]
xref: GARD:2791 {source="MONDO:GARD"}
xref: ICD10CM:P59.8 {source="Orphanet:2312/attributed", source="Orphanet:2312/ntbt", source="Orphanet:2312"}
xref: MEDGEN:75718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562692 {source="MONDO:equivalentTo"}
xref: OMIM:237900 {source="Orphanet:2312", source="MONDO:equivalentTo", source="Orphanet:2312/e"}
xref: Orphanet:2312 {source="MONDO:equivalentTo", source="OMIM:237900", source="GARD:0002791"}
xref: UMLS:C0270210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75718"}
is_a: MONDO:0002408 {source="DC-OMIM:237900", source="MESH:C562692", source="OMIM:237900"} ! hereditary hyperbilirubinemia
is_a: MONDO:0005154 {source="Orphanet:2312"} ! liver disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015507"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12530 {source="MONDO:mim2gene_medgen"} ! UGT1A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal" xsd:anyURI {source="GARD:0002791"}

[Term]
id: MONDO:0009384
name: Leydig cell hypoplasia, type 1
def: "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypergonadotropic hypogonadism, Male, due to Lhcgr defect" RELATED [OMIM:238320]
synonym: "Leydig cell agenesis" RELATED [OMIM:238320]
synonym: "Leydig cell hypoplasia caused by mutation in LHCGR" EXACT [MONDO:design_pattern]
synonym: "leydig cell hypoplasia with hypergonadotropic hypogonadism" EXACT [OMIM:238320, OMIM:genemap2]
synonym: "Leydig cell hypoplasia with male pseudohermaphroditism" RELATED [OMIM:238320]
synonym: "leydig cell hypoplasia with pseudohermaphroditism" EXACT [OMIM:238320, OMIM:genemap2]
synonym: "Leydig cell hypoplasia, complete" RELATED [OMIM:238320]
synonym: "Leydig cell hypoplasia, partial" RELATED [OMIM:238320]
synonym: "Leydig cell Hypoplasia, type 2" RELATED [OMIM:238320]
synonym: "Leydig cell hypoplasia, type I" RELATED [OMIM:238320]
synonym: "LHCGR Leydig cell hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "luteinizing hormone resistance, female" RELATED [OMIM:238320]
xref: MEDGEN:120576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:238320 {source="MONDO:equivalentTo"}
xref: Orphanet:755 {source="OMIM:238320"}
xref: Orphanet:96265 {source="OMIM:238320"}
xref: Orphanet:96266 {source="OMIM:238320"}
xref: UMLS:C0266432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120576"}
is_a: MONDO:0019155 {source="MONDO:Redundant", source="Orphanet:755/btnt"} ! Leydig cell hypoplasia
intersection_of: MONDO:0019155 ! Leydig cell hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6585 ! LHCGR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6585 {source="MONDO:mim2gene_medgen"} ! LHCGR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009385
name: hyperleucine-Isoleucinemia
synonym: "hyperleucine-Isoleucinemia" EXACT [OMIM:238340]
xref: MEDGEN:82821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562674 {source="MONDO:equivalentTo"}
xref: OMIM:238340 {source="MONDO:equivalentTo"}
xref: SCTID:7046009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268574 {source="MONDO:equivalentTo", source="MEDGEN:82821", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562674/inferred"} ! hereditary disease

[Term]
id: MONDO:0009386
name: hyperlexia
synonym: "compulsive reading" RELATED [OMIM:238350]
synonym: "hyperlexia" EXACT [OMIM:238350]
synonym: "precocious reading" RELATED [OMIM:238350]
xref: MEDGEN:341011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565500 {source="MONDO:equivalentTo"}
xref: OMIM:238350 {source="MONDO:equivalentTo"}
xref: UMLS:C1855928 {source="MEDGEN:341011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001697 {source="https://www.nichd.nih.gov/health/topics/reading/conditioninfo/disorders"} ! reading disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4484" xsd:anyURI

[Term]
id: MONDO:0009387
name: familial lipoprotein lipase deficiency
def: "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." [https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency]
subset: gard_rare {source="GARD:12241", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1129"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309015"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Burger-Grutz syndrome" RELATED [GARD:0012241]
synonym: "chylomicronemia, familial" RELATED [OMIM:238600]
synonym: "endogenous hypertriglyceridaemia" RELATED [GARD:0012241]
synonym: "familial chylomiconemia syndrome" EXACT [DOID:14118]
synonym: "familial fat-induced hypertriglyceridemia" RELATED [GARD:0012241]
synonym: "familial hyperchylomicronemia" RELATED [GARD:0012241]
synonym: "familial hyperlipoproteinemia type I" EXACT [DOID:14118]
synonym: "familial lipoprotein lipase deficiency (disorder) [ambiguous]" EXACT [DOID:14118]
synonym: "familial lipoprotein lipase deficiency with type I phenotype" EXACT [DOID:14118]
synonym: "familial LPL deficiency" EXACT [DOID:14118]
synonym: "Fredrickson type I hyperlipoproteinemia" EXACT [DOID:14118]
synonym: "Fredrickson type I lipaemia" EXACT [DOID:14118]
synonym: "high density lipoprotein cholesterol level QTL 11" EXACT [OMIM:238600, OMIM:genemap2]
synonym: "hypercholesterinaemic xanthomatosis" EXACT [DOID:14118]
synonym: "hyperchylomicronemia" EXACT [DOID:14118, ICD9CM:272.3]
synonym: "hyperchylomicronemia, familial" RELATED [OMIM:238600]
synonym: "hyperlipemia, essential familial" RELATED [OMIM:238600]
synonym: "hyperlipemia, idiopathic, Burger-Grutz type" RELATED [OMIM:238600]
synonym: "hyperlipoproteinemia type I" EXACT [NCIT:C84771]
synonym: "hyperlipoproteinemia, type 1" RELATED [OMIM:238600]
synonym: "hyperlipoproteinemia, type 1A" RELATED [OMIM:238600]
synonym: "hyperlipoproteinemia, type I" RELATED [OMIM:238600]
synonym: "lipase D deficiency" RELATED [OMIM:238600]
synonym: "lipd deficiency" RELATED [OMIM:238600]
synonym: "lipoprotein lipase deficiency" RELATED [OMIM:238600]
synonym: "lipoprotein lipase deficiency, familial" RELATED [GARD:0012241]
synonym: "LPL deficiency" EXACT [OMIM:238600, Orphanet:309015]
synonym: "mixed hyperglyceridemia" EXACT [DOID:14118]
synonym: "type I hyperlipoproteinemia" RELATED [GARD:0012241]
xref: DOID:14118 {source="MONDO:equivalentTo"}
xref: GARD:12241 {source="MONDO:GARD"}
xref: ICD10CM:E78.3 {source="DOID:14118", source="Orphanet:309015/attributed", source="Orphanet:309015/ntbt", source="Orphanet:309015"}
xref: ICD9:272.3 {source="DOID:14118"}
xref: MEDGEN:7352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008072 {source="DOID:14118", source="MONDO:equivalentTo"}
xref: NCIT:C84771 {source="DOID:14118", source="MONDO:equivalentTo"}
xref: NORD:1129 {source="MONDO:NORD"}
xref: OMIM:238600 {source="DOID:14118", source="Orphanet:309015/e", source="MONDO:equivalentTo", source="Orphanet:309015"}
xref: Orphanet:309015 {source="MONDO:equivalentTo", source="OMIM:238600"}
xref: Orphanet:411 {source="OMIM:238600"}
xref: SCTID:190781009 {source="DOID:14118"}
xref: SCTID:238039006 {source="DOID:14118"}
xref: SCTID:238086005 {source="DOID:14118"}
xref: SCTID:267435002 {source="DOID:14118"}
xref: SCTID:275598004 {source="DOID:14118", source="MONDO:equivalentTo"}
xref: SCTID:34171006 {source="DOID:14118"}
xref: SCTID:403827000 {source="DOID:14118"}
xref: UMLS:C0023817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7352"}
is_a: MONDO:0001336 {source="DC-OMIM:238600", source="DOID:14118", source="MONDO:indirect"} ! familial hyperlipidemia
is_a: MONDO:0018637 {source="Orphanet:309015"} ! familial chylomicronemia syndrome
is_a: MONDO:0037748 {source="NCIT:C84771"} ! hyperlipoproteinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6677 {source="MONDO:mim2gene_medgen"} ! LPL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency" xsd:anyURI {source="GARD:0012241"}

[Term]
id: MONDO:0009388
name: hyperlysinemia
def: "Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present." [Orphanet:2203]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2203"}
subset: orphanet_rare {source="Orphanet:2203"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:238700]
synonym: "hyperlysinemia" EXACT CLINGEN_LABEL [MONDO:ambiguous]
synonym: "hyperlysinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hyperlysinemia type I" EXACT [Orphanet:2203]
synonym: "hyperlysinemia, type 1" RELATED [OMIM:238700]
synonym: "hyperlysinemia, type I" RELATED [OMIM:238700]
synonym: "L-lysine NAD-oxido-reductase deficiency" RELATED [GARD:0002828]
synonym: "L-lysine:NAD-oxido-reductase deficiency" RELATED [OMIM:238700]
synonym: "lysine alpha-ketoglutarate reductase deficiency" EXACT [Orphanet:2203]
synonym: "lysine intolerance" RELATED [OMIM:238700]
synonym: "lysine:Alpha-ketoglutarate reductase deficiency" RELATED [OMIM:238700]
xref: DOID:9274 {source="MONDO:equivalentTo"}
xref: GARD:2828 {source="MONDO:GARD"}
xref: HP:0002161 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E72.3 {source="Orphanet:2203/ntbt", source="Orphanet:2203/inclusion", source="Orphanet:2203", source="DOID:9274"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020167 {source="Orphanet:2203", source="DOID:9274", source="Orphanet:2203/e"}
xref: NCIT:C123433 {source="MONDO:equivalentTo", source="DOID:9274"}
xref: OMIM:238700 {source="Orphanet:2203", source="MONDO:equivalentTo", source="DOID:9274", source="Orphanet:2203/e"}
xref: Orphanet:2203 {source="MONDO:equivalentTo", source="OMIM:238700", source="DOID:9274"}
xref: SCTID:58558003 {source="MONDO:equivalentTo", source="DOID:9274"}
xref: UMLS:C0268553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82816"}
is_a: MONDO:0004736 {source="DOID:9274", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0005066 {source="DOID:9274/inferred", source="MONDO:Redundant", source="NCIT:C123433", source="Orphanet:2203/inferred"} ! metabolic disease
is_a: MONDO:0017351 {source="Orphanet:2203"} ! inborn disorder of lysine and hydroxylysine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17366 {source="MONDO:mim2gene_medgen"} ! AASS
property_value: IAO:0000589 "hyperlysinemia (disease)" xsd:string

[Term]
id: MONDO:0009389
name: hyperlysinemia due to defect in lysine transport into mitochondria
subset: gard_rare {source="GARD:15183", source="MONDO:GARD"}
subset: rare
synonym: "hyperlysinemia due to defect in lysine TRANSPORT into mitochondria" RELATED [OMIM:238710]
xref: GARD:15183 {source="MONDO:GARD"}
xref: MEDGEN:341010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565499 {source="MONDO:equivalentTo"}
xref: OMIM:238710 {source="MONDO:equivalentTo"}
xref: Orphanet:2203 {source="OMIM:238710"}
xref: UMLS:C1855927 {source="MEDGEN:341010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009388 {source="Orphanet:2203/btnt"} ! hyperlysinemia

[Term]
id: MONDO:0009390
name: hyperlysinuria with hyperammonemia
synonym: "hyperlysinemia, periodic" RELATED [OMIM:238750]
synonym: "hyperlysinuria with hyperammonemia" EXACT [OMIM:238750]
xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:238750 {source="MONDO:equivalentTo"}
xref: SCTID:342553006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268555 {source="MEDGEN:120650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009391
name: hypermetabolism due to defect in mitochondria
synonym: "hypermetabolism due to defect in mitochondria" EXACT [OMIM:238800]
synonym: "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1" EXACT [OMIM:238800]
xref: MEDGEN:344612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565498 {source="MONDO:equivalentTo"}
xref: OMIM:238800 {source="MONDO:equivalentTo"}
xref: UMLS:C1855926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344612"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009392
name: hyperopia, high
synonym: "hyperopia, high" EXACT [OMIM:238950]
xref: MEDGEN:341009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565497 {source="MONDO:equivalentTo"}
xref: OMIM:238950 {source="MONDO:equivalentTo"}
xref: UMLS:C1855925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341009"}
is_a: MONDO:0003847 {source="MESH:C565497/inferred"} ! hereditary disease

[Term]
id: MONDO:0009393
name: ornithine translocase deficiency
def: "A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction." [Orphanet:415]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:415"}
subset: orphanet_rare {source="Orphanet:415"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HHH" RELATED ABBREVIATION [GARD:0002830]
synonym: "HHH syndrome" EXACT [DOID:0050720, Orphanet:415]
synonym: "Hhh syndrome" RELATED [OMIM:238970]
synonym: "HHHS" RELATED ABBREVIATION [GARD:0002830]
synonym: "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" EXACT [OMIM:238970, OMIM:genemap2]
synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" EXACT [DOID:0050720]
synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" RELATED [OMIM:238970]
synonym: "ornithine carrier deficiency" EXACT [Orphanet:415]
synonym: "ornithine translocase deficiency" EXACT CLINGEN_LABEL [OMIM:238970, Orphanet:415]
synonym: "ornithine translocase deficiency syndrome" RELATED [GARD:0002830]
synonym: "ORNT1 deficiency" EXACT [Orphanet:415]
synonym: "triple H syndrome" EXACT [Orphanet:415]
xref: DOID:0050720 {source="MONDO:equivalentTo"}
xref: GARD:2830 {source="MONDO:GARD"}
xref: ICD10CM:E72.4 {source="Orphanet:415/attributed", source="Orphanet:415/ntbt", source="Orphanet:415"}
xref: MEDGEN:82815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538380 {source="MONDO:equivalentTo"}
xref: NANDO:2200485 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129029 {source="MONDO:equivalentTo"}
xref: OMIM:238970 {source="DOID:0050720", source="Orphanet:415", source="MONDO:equivalentTo", source="Orphanet:415/e"}
xref: Orphanet:415 {source="OMIM:238970", source="MONDO:equivalentTo"}
xref: SCTID:30287008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82815"}
is_a: MONDO:0002254 {source="NCIT:C129029"} ! syndromic disease
is_a: MONDO:0004739 {source="Orphanet:415"} ! urea cycle disorder
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10985 {source="MONDO:mim2gene_medgen"} ! SLC25A15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009394
name: juvenile Paget disease
def: "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss." [Orphanet:2801]
subset: gard_rare {source="GARD:2831", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1230"}
subset: ordo_disorder {source="Orphanet:2801"}
subset: ordo_malformation_syndrome {source="Orphanet:2801"}
subset: orphanet_rare {source="Orphanet:2801"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hyperphosphatasia" EXACT [NCIT:C131861]
synonym: "familial osteoectasia" EXACT [Orphanet:2801]
synonym: "Hereditary Hyperphosphatasia" EXACT [NORD:1230]
synonym: "hereditary hyperphosphatasia" EXACT [Orphanet:2801]
synonym: "hyperostosid corticalis deformans juvenilis" RELATED [GARD:0002831]
synonym: "hyperostosis corticalis deformans juvenilis" EXACT [OMIM:239000, Orphanet:2801]
synonym: "hyperphosphatasemia, chronic congenital idiopathic" RELATED [OMIM:239000]
synonym: "hyperphosphatasia, familial idiopathic" RELATED [OMIM:239000]
synonym: "JPD" RELATED ABBREVIATION [GARD:0002831]
synonym: "JPG" EXACT ABBREVIATION [Orphanet:2801]
synonym: "juvenile Paget disease" EXACT CLINGEN_LABEL [OMIM:239000]
synonym: "juvenile Paget's disease" EXACT [Orphanet:2801]
synonym: "juvenile Pagets disease" RELATED [GARD:0002831]
synonym: "osteoectasia, familial" RELATED [OMIM:239000]
synonym: "Paget disease juvenile type" RELATED [GARD:0002831]
synonym: "Paget disease of bone 5, juvenile-onset" RELATED [GARD:0002831, MONDO:Lexical, OMIM:239000]
synonym: "PDB5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239000]
xref: DOID:0081368 {source="MONDO:equivalentTo"}
xref: GARD:2831 {source="MONDO:GARD"}
xref: ICD10CM:M88.0 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"}
xref: ICD10CM:M88.8 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"}
xref: ICD10CM:M88.9 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"}
xref: icd11.foundation:762002965 {source="MONDO:equivalentTo", source="Orphanet:2801"}
xref: MEDGEN:75678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537701 {source="MONDO:equivalentTo"}
xref: NCIT:C131861 {source="MONDO:equivalentTo"}
xref: NORD:1230 {source="MONDO:NORD"}
xref: OMIM:239000 {source="MONDO:equivalentTo", source="Orphanet:2801", source="Orphanet:2801/e"}
xref: Orphanet:2801 {source="MONDO:equivalentTo", source="OMIM:239000"}
xref: SCTID:9723006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268414 {source="MEDGEN:75678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005382 {source="DC-OMIM:239000", source="NCIT:C131861", source="OMIM:239000"} ! bone Paget disease
relationship: disease_has_feature HP:0011001 {source="Orphanet:2801"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2801", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11909 {source="MONDO:mim2gene_medgen"} ! TNFRSF11B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease" xsd:anyURI {source="GARD:0002831"}

[Term]
id: MONDO:0009395
name: hyperostosis corticalis generalisata
def: "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." [Orphanet:3416]
subset: gard_rare {source="GARD:2833", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3416"}
subset: ordo_malformation_syndrome {source="Orphanet:3416"}
subset: orphanet_rare {source="Orphanet:3416"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endosteal hyperostosis" EXACT [NCIT:C131812]
synonym: "endosteal hyperostosis autosomal recessive" RELATED [GARD:0002833]
synonym: "endosteal hyperostosis, autosomal recessive" RELATED [OMIM:239100]
synonym: "hyperostosis corticalis generalisata" EXACT [OMIM:239100]
synonym: "hyperphosphatasemia tarda" EXACT [OMIM:239100, Orphanet:3416]
synonym: "SOST-related sclerosing bone dysplasia" RELATED [DOID:0080036]
synonym: "VAN Buchem disease" RELATED [OMIM:239100]
synonym: "Van Buchem disease" EXACT [OMIM:239100, Orphanet:3416]
synonym: "van Buchem disease" EXACT [DOID:0080036]
synonym: "van Buchem disease type 1" EXACT [NCIT:C131812]
synonym: "VBCH" RELATED ABBREVIATION [GARD:0002833, OMIM:239100]
xref: DOID:0080036 {source="MONDO:equivalentTo"}
xref: GARD:2833 {source="MONDO:GARD"}
xref: ICD10CM:M85.2 {source="Orphanet:3416", source="Orphanet:3416/attributed", source="Orphanet:3416/ntbt"}
xref: MEDGEN:98484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131812 {source="MONDO:equivalentTo"}
xref: OMIM:239100 {source="MONDO:equivalentTo", source="DOID:0080036", source="Orphanet:3416", source="Orphanet:3416/e"}
xref: Orphanet:3416 {source="OMIM:239100", source="MONDO:equivalentTo"}
xref: SCTID:59763006 {source="MONDO:equivalentTo"}
xref: UMLS:C0432272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98484"}
is_a: MONDO:0002185 {source="DOID:0080036", source="NCIT:C131812"} ! hyperostosis
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: disease_has_feature HP:0001548 ! Overgrowth
relationship: disease_has_feature HP:0011001 {source="Orphanet:3416"} ! Increased bone mineral density
relationship: disease_has_feature HP:0100774 ! Hyperostosis
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:3416", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13771 {source="MONDO:mim2gene_medgen"} ! SOST
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009396
name: hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
synonym: "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" EXACT [OMIM:239199]
xref: MEDGEN:344611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565496 {source="MONDO:equivalentTo"}
xref: OMIM:239199 {source="MONDO:equivalentTo"}
xref: UMLS:C1855924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344611"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009397
name: neonatal severe primary hyperparathyroidism
def: "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." [Orphanet:417]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:417"}
subset: orphanet_rare {source="Orphanet:417"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperparathyroidism, neonatal" EXACT [OMIM:239200, OMIM:genemap2]
synonym: "hyperparathyroidism, neonatal severe" RELATED [MONDO:Lexical, OMIM:239200]
synonym: "hyperparathyroidism, neonatal severe primary" RELATED [OMIM:239200]
synonym: "neonatal severe hyperparathyroidism" RELATED [GARD:0002838]
synonym: "NSHPT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:239200, Orphanet:417]
synonym: "Nsph" RELATED [OMIM:239200]
xref: GARD:2838 {source="MONDO:GARD"}
xref: ICD10CM:E21.0 {source="Orphanet:417", source="Orphanet:417/attributed", source="Orphanet:417/ntbt"}
xref: MEDGEN:331326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563375 {source="MONDO:equivalentTo"}
xref: NCIT:C131853 {source="MONDO:equivalentTo"}
xref: OMIM:239200 {source="MONDO:equivalentTo", source="Orphanet:417", source="Orphanet:417/e"}
xref: Orphanet:417 {source="OMIM:239200", source="MONDO:equivalentTo"}
xref: SCTID:715218009 {source="MONDO:equivalentTo"}
xref: UMLS:C1832615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331326"}
is_a: MONDO:0010837 {source="MESH:C563375", source="NCIT:C131853"} ! primary hyperparathyroidism
is_a: MONDO:0016166 {source="MESH:C563375/inferred", source="MONDO:Redundant", source="NCIT:C131853/inferred", source="OMIM:239200", source="Orphanet:417"} ! hereditary hyperparathyroidism
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
relationship: disease_has_feature HP:0004348 {source="Orphanet:417"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:417", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 {source="MONDO:mim2gene_medgen"} ! CASR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009398
name: hyperphosphatasia with intellectual disability syndrome 1
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glycosylphosphatidylinositol biosynthesis defect 2" RELATED [OMIM:239300]
synonym: "HPMRS1" RELATED DEPRECATED [MONDO:Lexical, OMIM:239300]
synonym: "hyperphosphatasia with intellectual disability syndrome 1" EXACT [MONDO:Lexical, OMIM:239300]
synonym: "hyperphosphatasia with intellectual disability syndrome type 1" EXACT [MONDORULE:1, OMIM:239300]
synonym: "hyperphosphatasia with mental retardation syndrome 1" EXACT DEPRECATED [MONDO:Lexical, OMIM:239300]
synonym: "hyperphosphatasia with mental retardation syndrome type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:239300]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV" EXACT [MONDO:design_pattern]
synonym: "Mabry syndrome" RELATED [OMIM:239300]
synonym: "PIGV hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070433 {source="MONDO:equivalentTo"}
xref: GARD:18349 {source="MONDO:GARD"}
xref: MEDGEN:1647044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:239300 {source="MONDO:equivalentTo"}
xref: Orphanet:247262 {source="OMIM:239300"}
xref: UMLS:C4551502 {source="MEDGEN:1647044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:239300", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26031 ! PIGV
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26031 {source="MONDO:mim2gene_medgen"} ! PIGV
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009399
name: hyperphosphatemia, polyuria, and seizures
synonym: "hyperphosphatemia, polyuria, and seizures" EXACT [OMIM:239350]
xref: MEDGEN:343444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565494 {source="MONDO:equivalentTo"}
xref: OMIM:239350 {source="MONDO:equivalentTo"}
xref: UMLS:C1855922 {source="MEDGEN:343444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009400
name: hyperprolinemia type 1
def: "Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)." [Orphanet:419]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:419"}
subset: orphanet_rare {source="Orphanet:419"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPI" RELATED ABBREVIATION [OMIM:239500]
synonym: "hyperprolinemia caused by mutation in PRODH" EXACT [MONDO:design_pattern]
synonym: "hyperprolinemia type 1" EXACT CLINGEN_LABEL []
synonym: "hyperprolinemia, type 1" RELATED [OMIM:239500]
synonym: "hyperprolinemia, type I" RELATED [MONDO:Lexical, OMIM:239500]
synonym: "HYRPRO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239500]
synonym: "PRODH hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "proline oxidase deficiency" EXACT [Orphanet:419]
xref: DOID:0080542 {source="MONDO:equivalentTo"}
xref: ICD10CM:E72.5 {source="Orphanet:419/inclusion", source="Orphanet:419", source="Orphanet:419/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10058513 {source="Orphanet:419", source="Orphanet:419/e"}
xref: MEDGEN:120645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:239500 {source="MONDO:equivalentTo", source="Orphanet:419", source="Orphanet:419/e"}
xref: Orphanet:419 {source="OMIM:239500", source="MONDO:equivalentTo"}
xref: SCTID:61071003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120645"}
is_a: MONDO:0017355 {source="MONDO:Redundant", source="Orphanet:419"} ! inborn disorder of proline metabolism
is_a: MONDO:0023419 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hyperprolinemia
intersection_of: MONDO:0023419 ! hyperprolinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 ! PRODH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 {source="MONDO:mim2gene_medgen"} ! PRODH

[Term]
id: MONDO:0009401
name: hyperprolinemia type 2
def: "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." [Orphanet:79101]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6710", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79101"}
subset: orphanet_rare {source="Orphanet:79101"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [GARD:0006710]
synonym: "1-pyrroline-5-carboxylate dehydrogenase activity disease" EXACT [MONDO:design_pattern]
synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [OMIM:239510]
synonym: "ALDH4A1 hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [MONDO:0022953]
synonym: "delta1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [Orphanet:79101]
synonym: "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "HPII" RELATED ABBREVIATION [OMIM:239510]
synonym: "hyperprolinemia caused by mutation in ALDH4A1" EXACT [MONDO:design_pattern]
synonym: "hyperprolinemia type 2" EXACT CLINGEN_LABEL []
synonym: "hyperprolinemia, type 2" RELATED [OMIM:239510]
synonym: "hyperprolinemia, type II" RELATED [MONDO:Lexical, OMIM:239510]
synonym: "HYRPRO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239510]
synonym: "type 2 hyperprolinemia" RELATED [GARD:0006710]
xref: DOID:0080543 {source="MONDO:equivalentTo"}
xref: GARD:6710 {source="MONDO:GARD"}
xref: ICD10CM:E72.5 {source="Orphanet:79101/attributed", source="Orphanet:79101/ntbt", source="Orphanet:79101"}
xref: MedDRA:10058512 {source="Orphanet:79101/e", source="Orphanet:79101"}
xref: MedDRA:10058514 {source="Orphanet:79101/e", source="Orphanet:79101"}
xref: MEDGEN:419175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538385 {source="Orphanet:79101/e", source="MONDO:equivalentTo", source="Orphanet:79101"}
xref: OMIM:239510 {source="Orphanet:79101/e", source="MONDO:equivalentTo", source="Orphanet:79101"}
xref: Orphanet:79101 {source="OMIM:239510", source="MONDO:equivalentTo"}
xref: SCTID:717181004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419175"}
is_a: MONDO:0017355 {source="MONDO:Redundant", source="Orphanet:79101"} ! inborn disorder of proline metabolism
is_a: MONDO:0023419 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hyperprolinemia
intersection_of: MONDO:0023419 ! hyperprolinemia
intersection_of: disease_has_basis_in_disruption_of GO:0003842 ! 1-pyrroline-5-carboxylate dehydrogenase activity
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/406 ! ALDH4A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/406 {source="MONDO:mim2gene_medgen"} ! ALDH4A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7145" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0001798"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2" xsd:anyURI {source="GARD:0006710"}

[Term]
id: MONDO:0009402
name: acrofrontofacionasal dysostosis 2
def: "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." [Orphanet:2211]
subset: gard_rare {source="GARD:287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2211"}
subset: ordo_malformation_syndrome {source="Orphanet:2211"}
subset: orphanet_rare {source="Orphanet:2211"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrofrontofacionasal dysostosis 2" EXACT [OMIM:239710]
synonym: "acrofrontofacionasal dysostosis type 2" EXACT [MONDORULE:1, OMIM:239710, Orphanet:2211]
synonym: "acrofrontofacionasal dysostosis with genitourinary anomalies" RELATED [OMIM:239710]
synonym: "acrofrontofacionasal dysostosis, severe" RELATED [GARD:0000287]
synonym: "acrofrontofacionasal syndrome type 2" EXACT [Orphanet:2211]
synonym: "AFFN dysostosis 2" RELATED [OMIM:239710]
synonym: "hypertelorism hypospadias polysyndactyly syndrome" RELATED [GARD:0000287]
synonym: "hypertelorism, hypospadias, and polysyndactyly syndrome" RELATED [OMIM:239710]
synonym: "hypertelorism-hypospadias-polysyndactyly syndrome" EXACT [Orphanet:2211]
synonym: "Naguib syndrome" RELATED [GARD:0000287]
synonym: "Naguib-Richieri-Costa syndrome" EXACT [OMIM:239710, Orphanet:2211]
xref: GARD:287 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2211/attributed", source="Orphanet:2211/ntbt", source="Orphanet:2211"}
xref: MEDGEN:383797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538332 {source="MONDO:equivalentTo"}
xref: OMIM:239710 {source="Orphanet:2211", source="MONDO:equivalentTo", source="Orphanet:2211/e"}
xref: Orphanet:2211 {source="OMIM:239710", source="MONDO:equivalentTo"}
xref: SCTID:721835008 {source="MONDO:equivalentTo"}
xref: UMLS:C1855904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383797"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0008715 {source="DC-OMIM:239710"} ! acrofrontofacionasal dysostosis
is_a: MONDO:0015161 {source="Orphanet:2211"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009403
name: hypertelorism and tetralogy of fallot
synonym: "hypertelorism and tetralogy of fallot" EXACT [OMIM:239711]
xref: MEDGEN:344606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538386 {source="MONDO:equivalentTo"}
xref: OMIM:239711 {source="MONDO:equivalentTo"}
xref: UMLS:C1855903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344606"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2848/hypertelorism-and-tetralogy-of-fallot" xsd:anyURI {source="GARD:0002848"}

[Term]
id: MONDO:0009404
name: hypertelorism, microtia, facial clefting syndrome
def: "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." [Orphanet:2213]
subset: gard_rare {source="GARD:897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2213"}
subset: ordo_malformation_syndrome {source="Orphanet:2213"}
subset: orphanet_rare {source="Orphanet:2213"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bixler Christian Gorlin syndrome" EXACT [DOID:14670]
synonym: "Bixler syndrome" EXACT [DOID:14670]
synonym: "Bixler-Christian-Gorlin syndrome" EXACT [DOID:14670, Orphanet:2213]
synonym: "HMC syndrome" EXACT [DOID:14670, OMIM:239800, Orphanet:2213]
synonym: "hypertelorism microtia facial clefting syndrome" RELATED [GARD:0000897]
synonym: "hypertelorism, microtia, facial clefting syndrome" EXACT [OMIM:239800]
synonym: "hypertelorism-microtia-clefting syndrome" EXACT [DOID:14670]
synonym: "hypertelorism-microtia-facial clefting syndrome" EXACT [DOID:14670]
xref: DOID:14670 {source="MONDO:equivalentTo"}
xref: GARD:897 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2213/attributed", source="Orphanet:2213/ntbt", source="Orphanet:2213"}
xref: MEDGEN:113104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537632 {source="DOID:14670", source="MONDO:equivalentTo"}
xref: OMIM:239800 {source="Orphanet:2213", source="DOID:14670", source="MONDO:equivalentTo", source="Orphanet:2213/e"}
xref: Orphanet:2213 {source="MONDO:equivalentTo", source="OMIM:239800"}
xref: SCTID:721836009 {source="MONDO:equivalentTo"}
xref: UMLS:C0220742 {source="MEDGEN:113104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:14670", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2213"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2213", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:239800", source="Orphanet:2213"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009405
name: cervical hypertrichosis-peripheral neuropathy syndrome
def: "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." [Orphanet:2218]
subset: gard_rare {source="GARD:1226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2218"}
subset: orphanet_rare {source="Orphanet:2218"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervical hypertrichosis peripheral neuropathy" RELATED [GARD:0001226]
synonym: "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" RELATED [GARD:0001226, OMIM:239840]
xref: GARD:1226 {source="MONDO:GARD"}
xref: MEDGEN:341004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565492 {source="MONDO:equivalentTo"}
xref: OMIM:239840 {source="MONDO:equivalentTo", source="GARD:0001226", source="Orphanet:2218", source="Orphanet:2218/e"}
xref: Orphanet:2218 {source="OMIM:239840", source="MONDO:equivalentTo", source="GARD:0001226"}
xref: UMLS:C1855902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341004"}
is_a: MONDO:0019280 {source="MESH:C565492", source="Orphanet:2218"} ! hypertrichosis
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2218", source="Orphanet:2218/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy" xsd:anyURI {source="GARD:0001226"}

[Term]
id: MONDO:0009406
name: hypertrichotic osteochondrodysplasia Cantu type
def: "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." [Orphanet:1517]
subset: gard_rare {source="GARD:8585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1517"}
subset: ordo_malformation_syndrome {source="Orphanet:1517"}
subset: orphanet_rare {source="Orphanet:1517"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cantu syndrome" EXACT [DOID:0060569, OMIM:239850]
synonym: "Craniofaciocardioskeletal syndrome" RELATED [GARD:0008585]
synonym: "hypertrichotic osteochondrodysplasia" RELATED [GARD:0008585, OMIM:239850]
synonym: "hypertrichotic osteochondrodysplasia (Cantu syndrome)" EXACT [OMIM:239850, OMIM:genemap2]
synonym: "hypertrichotic osteochondrodysplasia, Cantu type" RELATED [Orphanet:1517]
xref: DOID:0060569 {source="MONDO:equivalentTo"}
xref: GARD:8585 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:1517/attributed", source="Orphanet:1517/ntbt", source="Orphanet:1517"}
xref: MEDGEN:208647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535572 {source="Orphanet:1517/e", source="MONDO:equivalentTo", source="DOID:0060569", source="Orphanet:1517"}
xref: OMIM:239850 {source="Orphanet:1517/e", source="MONDO:equivalentTo", source="DOID:0060569", source="GARD:0008585", source="Orphanet:1517"}
xref: Orphanet:1517 {source="OMIM:239850", source="MONDO:equivalentTo", source="GARD:0008585"}
xref: SCTID:239087008 {source="MONDO:equivalentTo"}
xref: UMLS:C0795905 {source="MEDGEN:208647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="DOID:0060569", source="MESH:C535572"} ! osteochondrodysplasia
is_a: MONDO:0015160 {source="Orphanet:1517"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: disease_has_feature HP:0000998 {source="MONDO:Wikidata"} ! Hypertrichosis
relationship: disease_has_feature MONDO:0019280 {source="MONDO:Wikidata"} ! hypertrichosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/60 {source="MONDO:mim2gene_medgen"} ! ABCC9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome" xsd:anyURI {source="GARD:0008585"}

[Term]
id: MONDO:0009407
name: hypertrophic neuropathy and cataract
synonym: "hypertrophic neuropathy and cataract" EXACT [OMIM:239900]
xref: MEDGEN:344602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565490 {source="MONDO:equivalentTo"}
xref: OMIM:239900 {source="MONDO:equivalentTo"}
xref: UMLS:C1855885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344602"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009408
name: hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase
synonym: "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase" EXACT [OMIM:240000]
xref: MEDGEN:383794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565489 {source="MONDO:equivalentTo"}
xref: OMIM:240000 {source="MONDO:equivalentTo"}
xref: UMLS:C1855884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383794"}
is_a: MONDO:0003847 {source="MESH:C565489/inferred"} ! hereditary disease

[Term]
id: MONDO:0009409
name: hypervitaminosis a, susceptibility to
subset: predisposition
synonym: "hypervitaminosis a, susceptibility to" EXACT [OMIM:240150]
xref: MEDGEN:343435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:240150 {source="MONDO:equivalentTo"}
xref: UMLS:C1855883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343435"}
is_a: MONDO:0020573 {source="OMIM:240150", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0006798 {source="OMIM:240150"} ! hypervitaminosis A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0009410
name: obsolete Addison disease
xref: NANDO:1200411 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200412 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200359 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200360 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1218" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015129

[Term]
id: MONDO:0009411
name: autoimmune polyendocrine syndrome type 1
def: "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." [Orphanet:3453]
subset: gard_rare {source="GARD:8466", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:798"}
subset: ordo_disorder {source="Orphanet:3453"}
subset: orphanet_rare {source="Orphanet:3453"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIRE autoimmune polyendocrinopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "aire autoimmune polyendocrinopathy" EXACT [MONDO:design_pattern]
synonym: "APECED syndrome" EXACT [Orphanet:3453]
synonym: "APS 1" RELATED [OMIM:240300]
synonym: "APS type 1" EXACT [Orphanet:3453]
synonym: "APS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:240300, Orphanet:3453]
synonym: "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome" EXACT [Orphanet:3453]
synonym: "autoimmune polyendocrine syndrome type 1" EXACT [Orphanet:3453]
synonym: "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:240300]
synonym: "autoimmune polyendocrinopathy caused by mutation in AIRE" EXACT []
synonym: "autoimmune polyendocrinopathy caused by mutation in aire" EXACT [MONDO:design_pattern]
synonym: "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia" EXACT [OMIM:240300, OMIM:genemap2]
synonym: "autoimmune polyendocrinopathy syndrome type 1" RELATED [GARD:0008466]
synonym: "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant" RELATED [OMIM:240300]
synonym: "autoimmune polyendocrinopathy type 1" RELATED [Orphanet:3453]
synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT [DOID:0050167, OMIM:240300]
synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)" RELATED [GARD:0008466]
synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome" EXACT [Orphanet:3453]
synonym: "autoimmune polyglandular syndrome I" EXACT [DOID:0050167]
synonym: "Autoimmune Polyglandular Syndrome Type 1" EXACT [NORD:798]
synonym: "autoimmune polyglandular syndrome type 1" EXACT [Orphanet:3453]
synonym: "autoimmune polyglandular syndrome, type 1" RELATED [OMIM:240300]
synonym: "ham syndrome" EXACT [Orphanet:3453]
synonym: "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis" RELATED [OMIM:240300]
synonym: "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome" EXACT [Orphanet:3453]
synonym: "MEDAC syndrome" EXACT [Orphanet:3453]
synonym: "multiple endocrine deficiency-Addison disease-candidiasis syndrome" EXACT [Orphanet:3453]
synonym: "PGA 1" RELATED [OMIM:240300]
synonym: "polyglandular autoimmune syndrome type 1" EXACT [NCIT:C129727]
synonym: "polyglandular autoimmune syndrome, type 1" RELATED [OMIM:240300]
synonym: "polyglandular deficiency syndrome, Persian-Jewish type" RELATED [OMIM:240300]
synonym: "Whitaker syndrom" EXACT [DOID:0050167]
synonym: "Whitaker syndrome" RELATED [GTR:AN0156902]
xref: DOID:0050167 {source="MONDO:equivalentTo"}
xref: GARD:8466 {source="MONDO:GARD"}
xref: ICD10CM:E31.0 {source="Orphanet:3453", source="Orphanet:3453/ntbt", source="Orphanet:3453/inclusion"}
xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538275 {source="Orphanet:3453", source="Orphanet:3453/e"}
xref: NANDO:2200346 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200738 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129727 {source="MONDO:equivalentTo"}
xref: NORD:798 {source="MONDO:NORD"}
xref: OMIM:240300 {source="Orphanet:3453", source="DOID:0050167", source="MONDO:equivalentTo", source="Orphanet:3453/e"}
xref: Orphanet:3453 {source="MONDO:equivalentTo", source="OMIM:240300"}
xref: SCTID:11244009 {source="MONDO:equivalentTo"}
xref: UMLS:C0085859 {source="MEDGEN:39125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:3453", source="Orphanet:3453/inferred"} ! adrenal gland disorder
is_a: MONDO:0016165 {source="Orphanet:3453"} ! hereditary hypoparathyroidism
is_a: MONDO:0017278 {source="DC-OMIM:240300", source="DOID:0050167", source="MONDO:Redundant", source="NCIT:C129727", source="Orphanet:3453"} ! autoimmune polyendocrinopathy
intersection_of: MONDO:0017278 ! autoimmune polyendocrinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/360 ! AIRE
relationship: excluded_subClassOf MONDO:0015130 {source="Orphanet:3453", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acquired chronic primary adrenal insufficiency
relationship: excluded_subClassOf MONDO:0019851 {source="Orphanet:3453", source="https://orcid.org/0000-0001-5208-3432"} ! acquired primary ovarian failure
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/360 {source="MONDO:mim2gene_medgen"} ! AIRE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009412
name: scurvy
def: "A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." [https://rarediseases.info.nih.gov/diseases/10406/scurvy]
comment: An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic.
subset: otar {source="MONDO:OTAR"}
synonym: "ascorbic acid deficiency" EXACT [MONDO:0006661]
synonym: "deficiency of vitamin C" EXACT [GARD:0010406]
synonym: "Gulo, nonfunctional" RELATED [OMIM:240400]
synonym: "hypoascorbemia" RELATED [OMIM:240400]
synonym: "L-gulonolactone oxidase pseudogene" RELATED [OMIM:240400]
synonym: "L-gulonolactone oxidase, nonfunctional" RELATED [OMIM:240400]
synonym: "scorbutus" RELATED [GARD:0010406]
synonym: "scurvy" EXACT [NCIT:C35010, OMIM:240400]
synonym: "vitamin C deficiency" EXACT [GARD:0010406, NCIT:C35010]
synonym: "vitamin C, inability to synthesise" RELATED OMO:0003005 []
synonym: "vitamin C, inability to synthesize" RELATED [OMIM:240400]
xref: DOID:13577 {source="MONDO:equivalentObsolete", source="EFO:1000822"}
xref: DOID:13724 {source="EFO:1001169", source="MONDO:equivalentTo"}
xref: EFO:1001169 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="MONDO:EFO"}
xref: ICD10CM:E54 {source="DOID:13724", source="MONDO:equivalentTo", source="EFO:1000822"}
xref: ICD9:267 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10039768 {source="EFO:1001169"}
xref: MedDRA:10047623 {source="EFO:1000822"}
xref: MEDGEN:20684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001206 {source="MONDO:equivalentTo", source="EFO:1000822"}
xref: MESH:D012614 {source="DOID:13724", source="EFO:1001169", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C35010 {source="DOID:13724", source="EFO:1001169", source="MONDO:equivalentTo"}
xref: OMIM:240400 {source="DOID:13724", source="MONDO:equivalentTo"}
xref: SCTID:154727008 {source="DOID:13724"}
xref: SCTID:190638001 {source="DOID:13724"}
xref: SCTID:238129003 {source="DOID:13724"}
xref: SCTID:267493006 {source="DOID:13724"}
xref: SCTID:76169001 {source="DOID:13724", source="MONDO:equivalentTo", source="EFO:1000822"}
xref: UMLS:C0036474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20684"}
is_a: MONDO:0006873 {source="DOID:13724", source="EFO:1000822", source="EFO:1001169", source="MESH:D001206/inferred", source="MESH:D012614/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! nutritional deficiency disease
is_a: MONDO:0024298 {source="MESH:D012614/inferred", source="NCIT:C35010"} ! vitamin deficiency disorder
relationship: disease_has_basis_in_disruption_of GO:0019853 {source="https://github.com/monarch-initiative/mondo/issues/60"} ! L-ascorbic acid biosynthetic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4684" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10406/scurvy" xsd:anyURI {source="GARD:0010406"}

[Term]
id: MONDO:0009413
name: immunodeficiency, common variable, 2
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antibody deficiency due to TACI defect" RELATED [OMIM:240500]
synonym: "CVID2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240500]
synonym: "hypogammaglobulinemia due to TACI deficiency" RELATED [OMIM:240500]
synonym: "immunodeficiency, common variable, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:240500]
synonym: "immunodeficiency, common variable, type 2" EXACT [MONDORULE:1, OMIM:240500]
xref: DOID:0081145 {source="MONDO:equivalentTo"}
xref: GARD:15184 {source="MONDO:GARD"}
xref: MEDGEN:461704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:240500 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:240500"}
xref: UMLS:C3150354 {source="MEDGEN:461704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015517 {source="DC-OMIM:240500", source="OMIM:240500"} ! common variable immunodeficiency

[Term]
id: MONDO:0009414
name: glycogen storage disorder due to hepatic glycogen synthase deficiency
def: "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves." [Orphanet:2089]
subset: gard_rare {source="GARD:2513", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2089"}
subset: orphanet_rare {source="Orphanet:2089"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease 0, liver" RELATED [MONDO:Lexical, OMIM:240600]
synonym: "glycogen storage disease due to glycogen synthase deficiency of liver" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to hepatic glycogen synthase deficiency" EXACT CLINGEN_LABEL []
synonym: "glycogen storage disease due to liver glycogen synthase deficiency" EXACT [Orphanet:2089]
synonym: "glycogen storage disease type 0" RELATED []
synonym: "glycogen storage disease type 0, liver" RELATED [GARD:0002513]
synonym: "glycogen storage disease type 0a" EXACT [Orphanet:2089]
synonym: "glycogen synthase deficiency" EXACT []
synonym: "glycogenosis type 0a" EXACT [Orphanet:2089]
synonym: "GSD 0A" RELATED [OMIM:240600]
synonym: "GSD due to hepatic glycogen synthase deficiency" EXACT [Orphanet:2089]
synonym: "GSD type 0a" EXACT [Orphanet:2089]
synonym: "GSD0A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240600]
synonym: "hepatic glycogen synthase deficiency" RELATED [GARD:0002513]
synonym: "hypoglycemia with deficiency of glycogen synthetase in the liver" RELATED [GARD:0002889, OMIM:240600]
synonym: "liver glycogen storage disease 0" RELATED [OMIM:240600]
synonym: "liver glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "liver glycogen synthase deficiency" RELATED [OMIM:240600]
synonym: "liver GSD 0" RELATED [GARD:0002513]
xref: GARD:2513 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:2089", source="Orphanet:2089/ntbt", source="Orphanet:2089/inclusion"}
xref: MEDGEN:343430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565485 {source="MONDO:equivalentTo"}
xref: NANDO:1200824 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200838 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200537 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201151 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:240600 {source="Orphanet:2089", source="MONDO:equivalentTo", source="Orphanet:2089/e"}
xref: Orphanet:2089 {source="MONDO:equivalentTo", source="OMIM:240600"}
xref: SCTID:237964009 {source="MONDO:equivalentTo"}
xref: UMLS:C1855861 {source="MEDGEN:343430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:2089", source="PMID:33340416"} ! disorder of glycogen metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4707 {source="MONDO:mim2gene_medgen"} ! GYS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009415
name: hypoglycemia, leucine-induced
synonym: "familial infantile hypoglycemia precipitated by leucine" RELATED [GARD:0009915]
synonym: "hypoglycemia leucine induced" RELATED [GARD:0009915]
synonym: "hypoglycemia leucine-induced" RELATED [GARD:0009915]
synonym: "hypoglycemia of infancy, leucine-sensitive" EXACT [OMIM:240800, OMIM:genemap2]
synonym: "hypoglycemia, leucine-induced" EXACT [MONDO:Lexical, OMIM:240800]
synonym: "leucine-sensitive hypoglycemia of infancy" RELATED [OMIM:240800]
synonym: "LIH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240800]
xref: DOID:0112262 {source="MONDO:equivalentTo"}
xref: MEDGEN:82888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537150 {source="MONDO:equivalentTo"}
xref: OMIM:240800 {source="MONDO:equivalentTo"}
xref: SCTID:62151007 {source="MONDO:equivalentTo"}
xref: UMLS:C0271714 {source="MEDGEN:82888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 {source="MONDO:mim2gene_medgen"} ! ABCC8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009416
name: hypoinsulinemic hypoglycemia and body hemihypertrophy
subset: gard_rare {source="GARD:17352", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293964"}
subset: orphanet_rare {source="Orphanet:293964"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HIHGHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240900]
synonym: "hypoinsulinemic hypoglycemia with hemihypertrophy" RELATED [MONDO:Lexical, OMIM:240900]
xref: DOID:0112263 {source="MONDO:equivalentTo"}
xref: GARD:17352 {source="MONDO:GARD"}
xref: MEDGEN:480014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:240900 {source="Orphanet:293964/e", source="MONDO:equivalentTo", source="Orphanet:293964"}
xref: Orphanet:293964 {source="OMIM:240900", source="MONDO:equivalentTo"}
xref: UMLS:C3278384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:480014"}
is_a: MONDO:0005151 {source="Orphanet:293964"} ! endocrine system disorder
is_a: MONDO:0019716 {source="Orphanet:293964"} ! overgrowth syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/392 {source="MONDO:mim2gene_medgen"} ! AKT2

[Term]
id: MONDO:0009417
name: hypergonadotropic hypogonadism-cataract syndrome
def: "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." [Orphanet:2410]
subset: gard_rare {source="GARD:298", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2410"}
subset: ordo_malformation_syndrome {source="Orphanet:2410"}
subset: orphanet_rare {source="Orphanet:2410"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataracts and testicular failure" RELATED [OMIM:240950]
synonym: "hypogonadism cataract syndrome" RELATED [GARD:0000298]
synonym: "hypogonadism-cataract syndrome" RELATED [OMIM:240950]
synonym: "Lubinsky syndrome" EXACT [Orphanet:2410]
xref: GARD:298 {source="MONDO:GARD"}
xref: ICD10CM:E29.1 {source="Orphanet:2410", source="Orphanet:2410/attributed", source="Orphanet:2410/ntbt"}
xref: MEDGEN:344596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C543092 {source="MONDO:equivalentTo"}
xref: OMIM:240950 {source="Orphanet:2410", source="MONDO:equivalentTo", source="Orphanet:2410/e"}
xref: Orphanet:2410 {source="MONDO:equivalentTo", source="OMIM:240950"}
xref: SCTID:721233005 {source="MONDO:equivalentTo"}
xref: UMLS:C1855859 {source="MEDGEN:344596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare

[Term]
id: MONDO:0009418
name: hypogonadism with low-grade mental deficiency and microcephaly
synonym: "hypogonadism with low-grade mental deficiency and microcephaly" EXACT [OMIM:241000]
xref: MEDGEN:383787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565482 {source="MONDO:equivalentTo"}
xref: OMIM:241000 {source="MONDO:equivalentTo"}
xref: UMLS:C1855858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383787"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009419
name: Woodhouse-Sakati syndrome
def: "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." [Orphanet:3464]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3464"}
subset: orphanet_rare {source="Orphanet:3464"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [Orphanet:3464]
synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia" RELATED [OMIM:241080]
synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia" RELATED DEPRECATED [OMIM:241080]
synonym: "hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome" RELATED [OMIM:241080]
synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" RELATED DEPRECATED [OMIM:241080]
synonym: "hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities" RELATED [GARD:0005592]
synonym: "hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities" RELATED DEPRECATED [GARD:0005592]
synonym: "woodhouse Sakati syndrome" RELATED [GARD:0005592]
synonym: "Woodhouse-Sakati syndrome" EXACT CLINGEN_LABEL []
synonym: "woodhouse-Sakati syndrome" EXACT [OMIM:241080]
xref: DOID:0112264 {source="MONDO:equivalentTo"}
xref: GARD:5592 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3464", source="Orphanet:3464/attributed", source="Orphanet:3464/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536742 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"}
xref: OMIM:241080 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"}
xref: Orphanet:3464 {source="OMIM:241080", source="MONDO:equivalentTo"}
xref: SCTID:237616002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342286 {source="MEDGEN:83337", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0018307 {source="Orphanet:3464"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3464", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:3464", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906", source="MONDO:0015967", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25784 {source="MONDO:mim2gene_medgen"} ! DCAF17
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome" xsd:anyURI {source="GARD:0005592"}

[Term]
id: MONDO:0009420
name: primary hypergonadotropic hypogonadism-partial alopecia syndrome
def: "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." [Orphanet:2232]
subset: gard_rare {source="GARD:16588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2232"}
subset: orphanet_rare {source="Orphanet:2232"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Al Awadi-Farag-Teebi syndrome" EXACT [Orphanet:2232]
synonym: "hypergonadotropic hypogonadism and partial alopecia" RELATED [OMIM:241090]
xref: GARD:16588 {source="MONDO:GARD"}
xref: ICD10CM:E28.3 {source="Orphanet:2232", source="MONDO:relatedTo", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"}
xref: ICD10CM:E29.1 {source="Orphanet:2232", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"}
xref: MEDGEN:388650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567109 {source="MONDO:equivalentTo"}
xref: OMIM:241090 {source="Orphanet:2232", source="MONDO:equivalentTo", source="Orphanet:2232/e"}
xref: Orphanet:2232 {source="MONDO:equivalentTo", source="OMIM:241090"}
xref: SCTID:719275009 {source="MONDO:equivalentTo"}
xref: UMLS:C2673480 {source="MEDGEN:388650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare

[Term]
id: MONDO:0009421
name: hypogonadism, male
comment: Editor note: check OMIM
synonym: "hypogonadism and testicular atrophy" RELATED [OMIM:241100]
synonym: "hypogonadism, male" EXACT [OMIM:241100, OMIM:307300]
xref: ICD9:257.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:241100 {source="MONDO:equivalentTo"}
xref: SCTID:48723006 {source="MONDO:equivalentTo"}
xref: UMLS:C0151721 {source="MEDGEN:57480", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002146 {source="DC-OMIM:241100", source="OMIM:307300"} ! hypogonadism
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009422
name: hypohidrosis with abnormal palmar dermal Ridges
synonym: "hypohidrosis with abnormal palmar dermal Ridges" EXACT [OMIM:241120]
synonym: "sweat gland hypoplasia" RELATED [OMIM:241120]
xref: MEDGEN:340989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565481 {source="MONDO:equivalentTo"}
xref: OMIM:241120 {source="MONDO:equivalentTo"}
xref: UMLS:C1855856 {source="MEDGEN:340989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009423
name: hypokalemic alkalosis, familial, with specific renal tubulopathy
subset: clingen {source="MONDO:CLINGEN"}
synonym: "Gullner syndrome" RELATED [OMIM:241150]
synonym: "hypokalemia, familial" RELATED [OMIM:241150]
synonym: "hypokalemic alkalosis, familial, with specific renal tubulopathy" EXACT [OMIM:241150]
xref: MEDGEN:78677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562654 {source="MONDO:equivalentTo"}
xref: OMIM:241150 {source="MONDO:equivalentTo"}
xref: SCTID:81987005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78677"}
is_a: MONDO:0003847 {source="MESH:C562654/inferred"} ! hereditary disease

[Term]
id: MONDO:0009424
name: Bartter disease type 2
def: "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22483", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:620220"}
subset: rare
synonym: "BARTS2" EXACT ABBREVIATION [DOID:0110143]
synonym: "Bartter disease type 2" EXACT CLINGEN_LABEL []
synonym: "Bartter syndrome antenatal type 2" RELATED [GARD:0009658]
synonym: "Bartter syndrome caused by mutation in KCNJ1" EXACT [MONDO:design_pattern]
synonym: "Bartter syndrome type 2" EXACT [DOID:0110143, Orphanet:620220]
synonym: "Bartter syndrome type 2 antenatal" EXACT [DOID:0110143]
synonym: "Bartter syndrome, antenatal, type 2" RELATED [OMIM:241200]
synonym: "Bartter syndrome, type 2" EXACT [OMIM:241200, OMIM:genemap2]
synonym: "Bartter syndrome, type 2, antenatal" RELATED [OMIM:241200]
synonym: "hyperprostaglandin E syndrome 2" EXACT [DOID:0110143, OMIM:241200]
synonym: "hypokalemic alkalosis with hypercalciuria 2 antenatal" EXACT [DOID:0110143]
synonym: "hypokalemic alkalosis with hypercalciuria 2, antenatal" RELATED [OMIM:241200]
synonym: "hypokalemic alkalosis with hypercalciuria antenatal 2" RELATED [GARD:0009658]
synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 2" RELATED [OMIM:241200]
synonym: "KCNJ1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110143 {source="MONDO:equivalentTo"}
xref: GARD:22483 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="DOID:0110143"}
xref: MEDGEN:343428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537651 {source="MONDO:equivalentTo"}
xref: OMIM:241200 {source="MONDO:equivalentTo", source="DOID:0110143"}
xref: Orphanet:112 {source="OMIM:241200"}
xref: Orphanet:620220 {source="MONDO:equivalentTo"}
xref: Orphanet:93604 {source="OMIM:241200", source="MONDO:directSiblingOf"}
xref: SCTID:700109009 {source="MONDO:equivalentTo"}
xref: UMLS:C1855849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343428"}
is_a: MONDO:0015231 {source="DOID:0110143", source="MESH:C537651", source="MONDO:Redundant", source="OMIM:241200"} ! Bartter syndrome
intersection_of: MONDO:0015231 ! Bartter syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6255 ! KCNJ1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6255 {source="MONDO:mim2gene_medgen"} ! KCNJ1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009425
name: hypomandibular faciocranial dysostosis
def: "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." [Orphanet:1790]
subset: gard_rare {source="GARD:2907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1790"}
subset: ordo_malformation_syndrome {source="Orphanet:1790"}
subset: orphanet_rare {source="Orphanet:1790"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypomandibular faciocranial dysostosis" EXACT [OMIM:241310]
xref: GARD:2907 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:1790/attributed", source="Orphanet:1790/ntbt", source="Orphanet:1790"}
xref: MEDGEN:343427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537154 {source="Orphanet:1790/e", source="MONDO:equivalentTo", source="Orphanet:1790"}
xref: OMIM:241310 {source="Orphanet:1790/e", source="MONDO:equivalentTo", source="Orphanet:1790"}
xref: Orphanet:1790 {source="MONDO:equivalentTo", source="OMIM:241310"}
xref: SCTID:721845005 {source="MONDO:equivalentTo"}
xref: UMLS:C1855848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343427"}
is_a: MONDO:0015160 {source="Orphanet:1790"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:1790", source="Orphanet:1790/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis" xsd:anyURI {source="GARD:0002907"}

[Term]
id: MONDO:0009426
name: hypoparathyroidism-retardation-dysmorphism syndrome
def: "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." [Orphanet:2323]
subset: gard_rare {source="GARD:411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2323"}
subset: ordo_malformation_syndrome {source="Orphanet:2323"}
subset: orphanet_rare {source="Orphanet:2323"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241410]
synonym: "HRD syndrome" EXACT [DOID:0060348, Orphanet:2323]
synonym: "HRDS" EXACT ABBREVIATION [NCIT:C133727]
synonym: "hypoparathyroidism with short stature, intellectual disability and seizures" EXACT [DOID:0060348, GARD:0000411]
synonym: "hypoparathyroidism with short stature, intellectual disability, and seizures" RELATED [OMIM:241410]
synonym: "hypoparathyroidism with short stature, mental retardation and seizures" EXACT DEPRECATED [DOID:0060348]
synonym: "hypoparathyroidism with short stature, mental retardation, and seizures" RELATED DEPRECATED [OMIM:241410]
synonym: "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay" RELATED [GARD:0000411]
synonym: "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay" RELATED [OMIM:241410]
synonym: "hypoparathyroidism-intellectual disability-dysmorphism syndrome" EXACT [Orphanet:2323]
synonym: "hypoparathyroidism-retardation-dysmorphism syndrome" EXACT [MONDO:Lexical, OMIM:241410]
synonym: "hypoparathyroidism-short stature-intellectual disability-seizures syndrome" EXACT [Orphanet:2323]
synonym: "Richardson-Kirk syndrome" EXACT [Orphanet:2323]
synonym: "Sanjad-Sakati syndrome" EXACT [DOID:0060348, OMIM:241410]
synonym: "SSS" EXACT ABBREVIATION [Orphanet:2323]
xref: DOID:0060348 {source="MONDO:equivalentTo"}
xref: GARD:411 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2323/attributed", source="Orphanet:2323/ntbt", source="Orphanet:2323"}
xref: MEDGEN:340984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537157 {source="MONDO:equivalentTo", source="DOID:0060348"}
xref: NCIT:C133727 {source="MONDO:equivalentTo"}
xref: OMIM:241410 {source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348", source="Orphanet:2323/e"}
xref: Orphanet:2323 {source="MONDO:equivalentTo", source="DOID:0060348", source="OMIM:241410"}
xref: UMLS:C1855840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340984"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C133727"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0060348", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2323"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2323", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:241410", source="Orphanet:2323"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11582 {source="MONDO:mim2gene_medgen"} ! TBCE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009427
name: obsolete infantile hypophosphatasia
def: "OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." [Orphanet:247651]
subset: clingen {source="MONDO:CLINGEN"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247651"}
synonym: "HOPS" EXACT ABBREVIATION [DOID:0110914, OMIM:241500]
synonym: "hypophosphatasia, infantile" RELATED [OMIM:241500]
synonym: "hypophosphatasia, perinatal lethal" RELATED [OMIM:241500]
synonym: "infantile phosphoethanolaminuria" EXACT [Orphanet:247651]
synonym: "infantile Rathburn disease" EXACT [Orphanet:247651]
synonym: "obsolete infantile hypophosphatasia" EXACT CLINGEN_LABEL []
synonym: "phosphoethanolaminuria" RELATED EXCLUDE [DOID:0110914]
xref: DOID:0110914 {source="MONDO:obsoleteEquivalent"}
xref: GARD:17192 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247651/attributed", source="Orphanet:247651/ntbt", source="Orphanet:247651"}
xref: OMIM:241500 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651/e", source="DOID:0110914", source="Orphanet:247651"}
xref: Orphanet:247623 {source="OMIM:241500"}
xref: Orphanet:247651 {source="MONDO:obsoleteEquivalent", source="DOID:0110914", source="OMIM:241500"}
xref: Orphanet:436 {source="OMIM:241500"}
xref: SCTID:55236002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2906" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
is_obsolete: true
consider: MONDO:0600009
consider: MONDO:0600010
consider: MONDO:0600011

[Term]
id: MONDO:0009428
name: obsolete childhood hypophosphatasia
def: "OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." [Orphanet:247667]
subset: clingen {source="MONDO:CLINGEN"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247667"}
synonym: "childhood-onset hypophosphatasia" RELATED [GARD:0008735]
synonym: "childhood-onset phosphoethanolaminuria" EXACT [Orphanet:247667]
synonym: "childhood-onset Rathburn disease" EXACT [Orphanet:247667]
synonym: "hypophosphatasia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "hypophosphatasia, childhood" RELATED [OMIM:241510]
synonym: "obsolete childhood hypophosphatasia" EXACT CLINGEN_LABEL []
synonym: "pediatric hypophosphatasia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:0110915 {source="MONDO:obsoleteEquivalent"}
xref: GARD:8735 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E83.3 {source="Orphanet:247667/attributed", source="Orphanet:247667/ntbt", source="MONDO:relatedTo", source="Orphanet:247667"}
xref: MESH:C562440 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:241510 {source="MONDO:obsoleteEquivalent", source="Orphanet:247667", source="DOID:0110915", source="Orphanet:247667/e"}
xref: Orphanet:247667 {source="MONDO:obsoleteEquivalent", source="DOID:0110915", source="OMIM:241510"}
xref: Orphanet:436 {source="OMIM:241510"}
xref: SCTID:30174008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2906" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8735/childhood-hypophosphatasia" xsd:anyURI {source="GARD:0008735"}
is_obsolete: true
consider: MONDO:0600009
consider: MONDO:0600010
consider: MONDO:0600011

[Term]
id: MONDO:0009429
name: hypophosphatemia, renal, with intracerebral calcifications
synonym: "hypophosphatemia, renal, with intracerebral calcifications" EXACT [OMIM:241519]
xref: MEDGEN:383776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565478 {source="MONDO:equivalentTo"}
xref: OMIM:241519 {source="MONDO:equivalentTo"}
xref: UMLS:C1855809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383776"}
is_a: MONDO:0003847 {source="MESH:C565478/inferred"} ! hereditary disease

[Term]
id: MONDO:0009430
name: hypophosphatemic rickets, autosomal recessive, 1
def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18416", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Arhr" RELATED [OMIM:241520]
synonym: "ARHR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241520]
synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1" EXACT [MONDO:design_pattern]
synonym: "DMP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypophosphatemia, autosomal recessive" RELATED [OMIM:241520]
synonym: "hypophosphatemic rickets, AR" EXACT [OMIM:241520, OMIM:genemap2]
synonym: "hypophosphatemic rickets, autosomal recessive, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:241520]
synonym: "hypophosphatemic rickets, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:241520]
xref: GARD:18416 {source="MONDO:GARD"}
xref: MEDGEN:1632314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562792 {source="MONDO:equivalentTo"}
xref: OMIM:241520 {source="MONDO:equivalentTo"}
xref: Orphanet:289176 {source="OMIM:241520"}
xref: UMLS:C4551495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632314"}
is_a: MONDO:0000044 {source="MONDO:0009430/inferred", source="MONDO:Redundant", source="OMIM:241520"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0017324 {source="MONDO:Redundant", source="Orphanet:289176/btnt"} ! autosomal recessive hypophosphatemic rickets
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0017324 ! autosomal recessive hypophosphatemic rickets
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2932 ! DMP1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:241520"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2932 {source="MONDO:mim2gene_medgen"} ! DMP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009431
name: hereditary hypophosphatemic rickets with hypercalciuria
def: "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." [Orphanet:157215]
subset: gard_rare {source="GARD:16977", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157215"}
subset: orphanet_rare {source="Orphanet:157215"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HHRH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:241530, Orphanet:157215]
synonym: "hypercalciuric hypophosphatemic rickets" EXACT [NCIT:C131450]
synonym: "hypercalciuric rickets" RELATED [OMIM:241530]
synonym: "hypophosphatemic hypercalciuric rickets" EXACT [NCIT:C131450]
synonym: "hypophosphatemic rickets with hypercalciuria" EXACT [OMIM:241530, OMIM:genemap2]
synonym: "hypophosphatemic rickets with hypercalciuria, hereditary" RELATED [MONDO:Lexical, OMIM:241530]
xref: DOID:0050947 {source="MONDO:equivalentTo"}
xref: GARD:16977 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="Orphanet:157215/attributed", source="Orphanet:157215/ntbt", source="MONDO:relatedTo", source="Orphanet:157215"}
xref: MEDGEN:501133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562793 {source="MONDO:equivalentTo"}
xref: NCIT:C131450 {source="MONDO:equivalentTo"}
xref: OMIM:241530 {source="Orphanet:157215", source="MONDO:equivalentTo", source="Orphanet:157215/e", source="DOID:0050947"}
xref: Orphanet:157215 {source="MONDO:equivalentTo", source="OMIM:241530"}
xref: SCTID:237891005 {source="MONDO:equivalentTo"}
xref: UMLS:C1853271 {source="MEDGEN:501133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000044 {source="NCIT:C131450", source="Orphanet:157215"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0005520 {source="DOID:0050947", source="MESH:C562793/inferred", source="MONDO:Redundant", source="NCIT:C131450/inferred"} ! rickets
is_a: MONDO:0024300 {source="MESH:C562793/inferred", source="MONDO:0009431/inferred", source="NCIT:C131450"} ! hypophosphatemic rickets
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
relationship: disease_has_feature HP:0002150 ! Hypercalciuria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20305 {source="MONDO:mim2gene_medgen"} ! SLC34A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009432
name: hypopituitarism, congenital, with central diabetes insipidus
synonym: "hypopituitarism, congenital, with central diabetes insipidus" EXACT [OMIM:241540]
xref: MEDGEN:340970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565477 {source="MONDO:equivalentTo"}
xref: OMIM:241540 {source="MONDO:equivalentTo"}
xref: UMLS:C1855800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340970"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009433
name: hypoplastic left heart syndrome 1
def: "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GJA1 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HLHS" BROAD ABBREVIATION [OMIM:241550]
synonym: "HLHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241550]
synonym: "hypoplastic left heart syndrome 1" EXACT [MONDO:Lexical, OMIM:241550]
synonym: "hypoplastic left heart syndrome caused by mutation in GJA1" EXACT [MONDO:design_pattern]
synonym: "hypoplastic left heart syndrome type 1" EXACT [MONDORULE:1, OMIM:241550]
xref: MEDGEN:1646779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:241550 {source="MONDO:equivalentTo", source="Orphanet:2248"}
xref: UMLS:C4551854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646779"}
is_a: MONDO:0004933 {source="DC-OMIM:241550", source="MONDO:Redundant", source="OMIM:241550"} ! hypoplastic left heart syndrome
intersection_of: MONDO:0004933 ! hypoplastic left heart syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 ! GJA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1

[Term]
id: MONDO:0009434
name: hypoproteinemia, hypercatabolic
subset: gard_rare {source="GARD:15185", source="MONDO:GARD"}
subset: rare
synonym: "B2M deficiency" RELATED [OMIM:241600]
synonym: "Beta-2-microglobulin deficiency" RELATED [OMIM:241600]
synonym: "hypoproteinemia, hypercatabolic" EXACT [OMIM:241600]
synonym: "IMD43" RELATED ABBREVIATION [OMIM:241600]
synonym: "immunodeficiency 43" RELATED [OMIM:241600]
xref: DOID:0111981 {source="MONDO:equivalentTo"}
xref: GARD:15185 {source="MONDO:GARD"}
xref: MEDGEN:343422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565476 {source="MONDO:equivalentTo"}
xref: OMIM:241600 {source="MONDO:equivalentTo"}
xref: UMLS:C1855796 {source="MEDGEN:343422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:241600"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0011476 {source="https://orcid.org/0000-0001-5208-3432"} ! MHC class I deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/914 {source="MONDO:mim2gene_medgen"} ! B2M

[Term]
id: MONDO:0009435
name: hypospadias-intellectual disability, Goldblatt type syndrome
def: "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." [Orphanet:2261]
subset: gard_rare {source="GARD:2928", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2261"}
subset: ordo_malformation_syndrome {source="Orphanet:2261"}
subset: orphanet_rare {source="Orphanet:2261"}
subset: rare
synonym: "Goldblatt Wallis syndrome" RELATED [GARD:0002928]
synonym: "Goldblatt-Wallis syndrome" EXACT [Orphanet:2261]
synonym: "hypospadias intellectual deficit Goldblatt type" RELATED [GARD:0002928]
synonym: "hypospadias intellectual disability Goldblatt type" RELATED [GARD:0002928]
synonym: "hypospadias intellectual disability syndrome" RELATED [GARD:0002928]
synonym: "hypospadias mental retardation Goldblatt type" RELATED DEPRECATED [GARD:0002928]
synonym: "hypospadias mental retardation syndrome" RELATED DEPRECATED [GARD:0002928]
synonym: "hypospadias-intellectual disability syndrome" RELATED [OMIM:241760]
synonym: "hypospadias-mental retardation syndrome" RELATED DEPRECATED [OMIM:241760]
xref: GARD:2928 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2261/attributed", source="Orphanet:2261/ntbt", source="Orphanet:2261"}
xref: MEDGEN:162896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563067 {source="MONDO:equivalentTo"}
xref: OMIM:241760 {source="Orphanet:2261/e", source="MONDO:equivalentTo", source="Orphanet:2261", source="GARD:0002928"}
xref: Orphanet:2261 {source="MONDO:equivalentTo", source="OMIM:241760", source="GARD:0002928"}
xref: SCTID:716096005 {source="MONDO:equivalentTo"}
xref: UMLS:C0795989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162896"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2261"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2261", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2928/hypospadias-mental-retardation-goldblatt-type" xsd:anyURI {source="GARD:0002928"}

[Term]
id: MONDO:0009436
name: congenital hypothalamic hamartoma syndrome
def: "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic." [https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas]
subset: gard_rare {source="GARD:2934", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hypothalamic hamartoma syndrome" EXACT [OMIM:241800]
synonym: "hamartoma of hypothalamus" EXACT [NCIT:C4385]
synonym: "hamartoma of the hypothalamus" RELATED [GARD:0002934]
synonym: "hypothalamic hamartoma" EXACT [NCIT:C4385]
synonym: "hypothalamic hamartomas" EXACT [OMIM:241800]
synonym: "Pallister-Hall-like syndrome" EXACT [OMIM:241800, OMIM:genemap2]
xref: GARD:2934 {source="MONDO:GARD"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537158 {source="MONDO:equivalentTo"}
xref: NCIT:C4385 {source="MONDO:equivalentTo"}
xref: OMIM:241800 {source="MONDO:equivalentTo"}
xref: Orphanet:2113 {source="OMIM:241800", source="MONDO:equivalentObsolete"}
xref: SCTID:237714006 {source="MONDO:equivalentTo"}
xref: UMLS:C0342418 {source="MEDGEN:137970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007804 ! Pallister-Hall syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4319 {source="MONDO:mim2gene_medgen"} ! GLI3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas" xsd:anyURI {source="GARD:0002934"}

[Term]
id: MONDO:0009437
name: Bamforth-Lazarus syndrome
def: "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." [Orphanet:1226]
subset: gard_rare {source="GARD:414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1226"}
subset: ordo_malformation_syndrome {source="Orphanet:1226"}
subset: orphanet_rare {source="Orphanet:1226"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" EXACT [Orphanet:1226]
synonym: "Bamforth syndrome" EXACT [Orphanet:1226]
synonym: "Bamforth-Lazarus syndrome" EXACT CLINGEN_LABEL [OMIM:241850]
synonym: "hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate" RELATED [GARD:0000414]
synonym: "hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate" EXACT [DOID:0050655]
synonym: "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate" RELATED [OMIM:241850]
synonym: "hypothyroidism-cleft palate syndrome" EXACT [Orphanet:1226]
xref: DOID:0050655 {source="MONDO:equivalentTo"}
xref: GARD:414 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:1226", source="Orphanet:1226/attributed", source="Orphanet:1226/ntbt"}
xref: MEDGEN:343420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537901 {source="MONDO:equivalentTo", source="Orphanet:1226", source="Orphanet:1226/e"}
xref: OMIM:241850 {source="MONDO:equivalentTo", source="Orphanet:1226", source="DOID:0050655", source="Orphanet:1226/e"}
xref: Orphanet:1226 {source="MONDO:equivalentTo", source="OMIM:241850"}
xref: SCTID:722375007 {source="MONDO:equivalentTo"}
xref: UMLS:C1855794 {source="MEDGEN:343420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="PMID:35963604", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3806 {source="MONDO:mim2gene_medgen"} ! FOXE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009438
name: hypouricemia, hypercalcinuria, and decreased bone density
subset: gard_rare {source="GARD:15186", source="MONDO:GARD"}
subset: rare
synonym: "hypouricemia, hypercalcinuria, and decreased bone density" EXACT [OMIM:242050]
xref: GARD:15186 {source="MONDO:GARD"}
xref: MEDGEN:343419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565475 {source="MONDO:equivalentTo"}
xref: OMIM:242050 {source="MONDO:equivalentTo"}
xref: Orphanet:94088 {source="OMIM:242050"}
xref: UMLS:C1855793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343419"}
is_a: MONDO:0009071 {source="Orphanet:94088/btnt"} ! hereditary renal hypouricemia

[Term]
id: MONDO:0009439
name: autosomal recessive congenital ichthyosis 2
def: "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." [NCIT:C132827]
subset: gard_rare {source="GARD:15187", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI2" EXACT ABBREVIATION [DOID:0060710, MONDO:Lexical, OMIM:242100]
synonym: "autosomal recessive congenital ichthyosis type 2" EXACT [DOID:0060710, MONDORULE:1]
synonym: "Brocq congenital ichthyosiform erythroderma nonbullous form" EXACT [DOID:0060710]
synonym: "collodion baby, self-healing" RELATED [OMIM:242100]
synonym: "ichthyosiform erythroderma, Brocq congenital, nonbullous form" RELATED [OMIM:242100]
synonym: "ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly" RELATED [OMIM:242100]
synonym: "ichthyosiform erythroderma, congenital, nonbullous, 1" RELATED [GARD:0009736]
synonym: "ichthyosiform erythroderma, nonbullous congenital, 1" RELATED [OMIM:242100]
synonym: "ichthyosiform erythroderma, nonbullous congenital, 1, formerly" RELATED [OMIM:242100]
synonym: "ichthyosis, congenital, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:242100]
synonym: "ichthyosis, congenital, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:242100]
synonym: "NBCIE" RELATED ABBREVIATION [GARD:0009736]
synonym: "NCIE" RELATED ABBREVIATION [GARD:0009736]
synonym: "NCIE1" EXACT ABBREVIATION [DOID:0060710]
synonym: "nonbullous congenital ichthyosiform erythroderma 1" EXACT [DOID:0060710]
xref: DOID:0060710 {source="MONDO:equivalentTo"}
xref: GARD:15187 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060710"}
xref: MEDGEN:854762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C132827 {source="MONDO:equivalentTo"}
xref: OMIM:242100 {source="DOID:0060710", source="MONDO:equivalentTo"}
xref: Orphanet:281122 {source="OMIM:242100"}
xref: Orphanet:79394 {source="OMIM:242100"}
xref: UMLS:C3888093 {source="MEDGEN:854762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:242100"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017267 {source="MONDO:Redundant", source="Orphanet:281122/btnt"} ! self-healing collodion baby
is_a: MONDO:0019269 {source="MONDO:Redundant", source="NCIT:C132827"} ! ichthyosis
is_a: MONDO:0019306 {source="MONDO:Redundant", source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:242100"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009440
name: ichthyosiform erythroderma, corneal involvement, and hearing loss
subset: gard_rare {source="GARD:2946", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Desmons syndrome" RELATED [OMIM:242150]
synonym: "ichthyosiform erythroderma, corneal involvement, and deafness" NARROW [OMIM:242150]
synonym: "ichthyosiform erythroderma, corneal involvement, deafness" RELATED [GARD:0002946]
synonym: "keratitis-ichthyosis-deafness syndrome, autosomal recessive" RELATED [OMIM:242150]
synonym: "KID syndrome, autosomal recessive" RELATED [OMIM:242150]
xref: GARD:2946 {source="MONDO:GARD"}
xref: MEDGEN:224809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537363 {source="MONDO:equivalentTo"}
xref: OMIM:242150 {source="MONDO:equivalentTo"}
xref: Orphanet:477 {source="OMIM:242150"}
xref: SCTID:403780007 {source="MONDO:equivalentTo"}
xref: UMLS:C1275089 {source="MEDGEN:224809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018781 {source="Orphanet:477/btnt"} ! KID syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0009441
name: autosomal recessive congenital ichthyosis 1
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:3170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI1" EXACT ABBREVIATION [DOID:0060656, MONDO:Lexical, OMIM:242300]
synonym: "autosomal recessive congenital ichthyosis 1" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive congenital ichthyosis type 1" EXACT [DOID:0060656, MONDORULE:1]
synonym: "bathing suit ichthyosis" NARROW [DOID:0060656]
synonym: "collodion baby, self-healing" RELATED [OMIM:242300]
synonym: "collodion fetus" RELATED [GARD:0003170, OMIM:242300]
synonym: "collodion foetus" RELATED OMO:0003005 []
synonym: "desquamation of newborn" RELATED [GARD:0003170, OMIM:242300]
synonym: "ichthyosis congenita" RELATED [GARD:0003170, OMIM:242300]
synonym: "ichthyosis congenita 2" RELATED [OMIM:242300]
synonym: "ichthyosis lamellar 1" RELATED [GARD:0003170]
synonym: "ichthyosis, congenital, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:242300]
synonym: "ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution" RELATED [OMIM:242300]
synonym: "ichthyosis, congenital, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:242300]
synonym: "ichthyosis, lamellar, 1" RELATED [OMIM:242300]
synonym: "ichthyosis, lamellar, 1, formerly" RELATED [OMIM:242300]
synonym: "lamellar exfoliation of newborn" RELATED [GARD:0003170, OMIM:242300]
synonym: "lamellar ichthyosis, type 1" RELATED [GARD:0003170]
synonym: "LI1" RELATED ABBREVIATION [GARD:0003170]
xref: DOID:0060656 {source="MONDO:equivalentTo"}
xref: GARD:3170 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060656"}
xref: MEDGEN:1635401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017490 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:242300 {source="MONDO:equivalentTo", source="DOID:0060656", source="GARD:0003170"}
xref: Orphanet:100976 {source="DOID:0060656", source="OMIM:242300", source="MONDO:directSiblingOf"}
xref: Orphanet:281122 {source="DOID:0060656", source="OMIM:242300", source="MONDO:directSiblingOf"}
xref: Orphanet:313 {source="MONDO:relatedTo", source="DOID:0060656", source="GARD:0003170", source="OMIM:242300"}
xref: UMLS:C4551630 {source="MEDGEN:1635401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="DC-OMIM:242300", source="DOID:0060656", source="MONDO:Redundant", source="OMIM:242300"} ! autosomal recessive congenital ichthyosis
intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11777 ! TGM1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11777 {source="MONDO:mim2gene_medgen"} ! TGM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1" xsd:anyURI {source="GARD:0003170"}

[Term]
id: MONDO:0009442
name: ichthyosis congenita with biliary atresia
synonym: "congenital ichthyosis with biliary atresia" RELATED [GARD:0002948]
synonym: "ichthyosis congenita biliary atresia" RELATED [GARD:0002948]
synonym: "ichthyosis congenita with biliary atresia" EXACT [OMIM:242400]
xref: MEDGEN:140780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562886 {source="MONDO:equivalentTo"}
xref: OMIM:242400 {source="MONDO:equivalentTo", source="GARD:0002948"}
xref: Orphanet:2270 {source="GARD:0002948"}
xref: SCTID:235916001 {source="MONDO:equivalentTo"}
xref: UMLS:C0400974 {source="MEDGEN:140780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562886/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia" xsd:anyURI {source="GARD:0002948"}

[Term]
id: MONDO:0009443
name: autosomal recessive congenital ichthyosis 4B
def: "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." [Orphanet:457]
subset: gard_rare {source="GARD:6568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1287"}
subset: ordo_disorder {source="Orphanet:457"}
subset: orphanet_rare {source="Orphanet:457"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "'Harlequin fetus'" RELATED [OMIM:242500]
synonym: "ARCI4B" EXACT ABBREVIATION [DOID:0060713, MONDO:Lexical, OMIM:242500]
synonym: "autosomal recessive congenital ichthyosis type 4B" EXACT [DOID:0060713, MONDORULE:4]
synonym: "Harlequin fetus" RELATED [GARD:0006568]
synonym: "Harlequin foetus" RELATED OMO:0003005 []
synonym: "Harlequin Ichthyosis" EXACT [NORD:1287]
synonym: "harlequin ichthyosis" EXACT [DOID:0060713]
synonym: "harlequin type ichthyosis congenita" EXACT [DOID:0060713]
synonym: "harlequin type ichthyosis fetalis" EXACT [DOID:0060713]
synonym: "hi" EXACT [Orphanet:457]
synonym: "ichthyosis , congenital, autosomal recessive 4b (harlequin)" EXACT [OMIM:242500, OMIM:genemap2]
synonym: "ichthyosis congenita, Harlequin fetus type" RELATED [OMIM:242500]
synonym: "ichthyosis congenita, Harlequin foetus type" RELATED OMO:0003005 []
synonym: "ichthyosis congenita, Harlequin type" EXACT [Orphanet:457]
synonym: "ichthyosis fetalis, Harlequin type" EXACT [Orphanet:457]
synonym: "ichthyosis, congenital, autosomal recessive 4B" RELATED [MONDO:Lexical, OMIM:242500]
synonym: "ichthyosis, congenital, autosomal recessive type 4B" EXACT [MONDORULE:4, OMIM:242500]
xref: DOID:0060713 {source="MONDO:equivalentTo"}
xref: GARD:6568 {source="MONDO:GARD"}
xref: ICD10CM:Q80.4 {source="Orphanet:457", source="Orphanet:457/e", source="DOID:0060713", source="Orphanet:457/specific"}
xref: MedDRA:10019163 {source="Orphanet:457", source="Orphanet:457/e"}
xref: MEDGEN:108615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200614 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200992 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98934 {source="MONDO:equivalentTo"}
xref: NORD:1287 {source="MONDO:NORD"}
xref: OMIM:242500 {source="Orphanet:457", source="MONDO:equivalentTo", source="Orphanet:457/e", source="DOID:0060713"}
xref: Orphanet:457 {source="MONDO:equivalentTo", source="DOID:0060713", source="OMIM:242500"}
xref: SCTID:205548006 {source="MONDO:equivalentTo"}
xref: UMLS:C0598226 {source="MONDO:equivalentTo", source="MEDGEN:108615", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="DC-OMIM:242500", source="DOID:0060713", source="OMIM:242500", source="Orphanet:457"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0019269 {source="MONDO:Redundant", source="NCIT:C98934", source="Orphanet:457/inferred"} ! ichthyosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14637 {source="MONDO:mim2gene_medgen"} ! ABCA12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009444
name: ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
def: "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987." [Orphanet:2269]
subset: gard_rare {source="GARD:292", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2269"}
subset: orphanet_rare {source="Orphanet:2269"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis alopecia eclabion ectropion intellectual disability" RELATED [GARD:0000292]
synonym: "ichthyosis alopecia eclabion ectropion mental retardation" RELATED DEPRECATED [GARD:0000292]
synonym: "ichthyosis with alopecia, eclabium, ectropion, and intellectual disability" RELATED [OMIM:242510]
synonym: "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" RELATED DEPRECATED [OMIM:242510]
synonym: "Jagell Holmgren Hofer syndrome" RELATED [GARD:0000292]
synonym: "Jagell-Holmgren-Hofer syndrome" EXACT [Orphanet:2269]
xref: GARD:292 {source="MONDO:GARD"}
xref: MEDGEN:344577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537364 {source="MONDO:equivalentTo"}
xref: OMIM:242510 {source="Orphanet:2269", source="MONDO:equivalentTo", source="Orphanet:2269/e"}
xref: Orphanet:2269 {source="MONDO:equivalentTo", source="OMIM:242510"}
xref: UMLS:C1855788 {source="MEDGEN:344577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:2269"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2269", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009445
name: ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
def: "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." [Orphanet:2274]
subset: gard_rare {source="GARD:1993", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2274"}
subset: orphanet_rare {source="Orphanet:2274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dykes Markes Harper syndrome" RELATED [GARD:0001993]
synonym: "Dykes-Markes-Harper syndrome" EXACT [Orphanet:2274]
synonym: "Dykes-Marks-Harper syndrome" EXACT [Orphanet:2274]
synonym: "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" RELATED [OMIM:242520]
xref: GARD:1993 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2274/attributed", source="Orphanet:2274/ntbt", source="Orphanet:2274"}
xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535727 {source="MONDO:equivalentTo"}
xref: OMIM:242520 {source="Orphanet:2274/e", source="MONDO:equivalentTo", source="Orphanet:2274"}
xref: Orphanet:2274 {source="MONDO:equivalentTo", source="OMIM:242520"}
xref: SCTID:403779009 {source="MONDO:equivalentTo"}
xref: UMLS:C1275088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266150"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0100309 {source="Orphanet:2274"} ! hereditary ataxia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009446
name: ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
def: "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive." [Orphanet:2278]
subset: gard_rare {source="GARD:4641", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2278"}
subset: ordo_malformation_syndrome {source="Orphanet:2278"}
subset: orphanet_rare {source="Orphanet:2278"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis intellectual deficit dwarfism renal impairment" RELATED [GARD:0004641]
synonym: "ichthyosis, intellectual disability, dwarfism and renal impairment" RELATED [GARD:0004641]
synonym: "ichthyosis, intellectual disability, dwarfism, and renal impairment" RELATED [OMIM:242530]
synonym: "ichthyosis, mental retardation, dwarfism and renal impairment" RELATED DEPRECATED [GARD:0004641]
synonym: "ichthyosis, mental retardation, dwarfism, and renal impairment" RELATED DEPRECATED [OMIM:242530]
synonym: "Passwell-Goodman-Siprkowski syndrome" EXACT [Orphanet:2278]
xref: GARD:4641 {source="MONDO:GARD"}
xref: MEDGEN:340966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536274 {source="Orphanet:2278", source="MONDO:equivalentTo", source="Orphanet:2278/e"}
xref: OMIM:242530 {source="Orphanet:2278", source="MONDO:equivalentTo", source="Orphanet:2278/e"}
xref: Orphanet:2278 {source="MONDO:equivalentTo", source="OMIM:242530"}
xref: UMLS:C1855787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340966"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009447
name: ichthyosis, split hairs, and amino aciduria
synonym: "ichthyosis, split hairs, and amino aciduria" EXACT [OMIM:242550]
xref: MEDGEN:344576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565471 {source="MONDO:equivalentTo"}
xref: OMIM:242550 {source="MONDO:equivalentTo"}
xref: UMLS:C1855786 {source="MONDO:equivalentTo", source="MEDGEN:344576", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565471/inferred"} ! hereditary disease

[Term]
id: MONDO:0009448
name: iminoglycinuria
def: "A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait." [Orphanet:42062]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:42062"}
subset: orphanet_rare {source="Orphanet:42062"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "iminoglycinuria" EXACT CLINGEN_LABEL [OMIM:242600]
synonym: "iminoglycinuria, digenic" EXACT [OMIM:242600, OMIM:genemap2]
xref: DOID:0112265 {source="MONDO:equivalentTo"}
xref: GARD:8424 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:42062/attributed", source="Orphanet:42062/ntbt", source="Orphanet:42062"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:124342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536285 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"}
xref: OMIM:242600 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"}
xref: Orphanet:42062 {source="MONDO:equivalentTo", source="OMIM:242600"}
xref: SCTID:84121007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268654 {source="MEDGEN:124342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019216 {source="Orphanet:42062", source="PMID:33340416"} ! inborn disorder of amino acid transport
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria" xsd:anyURI {source="GARD:0008424"}

[Term]
id: MONDO:0009449
name: ciliary dyskinesia with defective radial spokes
subset: gard_rare {source="GARD:2981", source="MONDO:GARD"}
subset: rare
synonym: "cilia with defective radial spokes" RELATED [GARD:0002981]
synonym: "ciliary dyskinesia with defective radial spokes" EXACT [OMIM:242670]
synonym: "immotile cilia syndrome due to defective radial spokes" RELATED [OMIM:242670]
synonym: "immotile cilia syndrome, due to defective radial spokes" RELATED [GARD:0002981]
xref: GARD:2981 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536286 {source="MONDO:equivalentTo"}
xref: OMIM:242670 {source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:242670"}
xref: SCTID:233664005 {source="MONDO:equivalentTo"}
xref: UMLS:C0340035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137933"}
is_a: MONDO:0016575 {source="MESH:C536286"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0009450
name: ciliary dyskinesia with excessively long cilia
subset: gard_rare {source="GARD:2982", source="MONDO:GARD"}
subset: rare
synonym: "ciliary dyskinesia with excessively long cilia" EXACT [OMIM:242680]
synonym: "immotile cilia syndrome due to excessively long cilia" RELATED [OMIM:242680]
xref: GARD:2982 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536287 {source="MONDO:equivalentTo"}
xref: OMIM:242680 {source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:242680"}
xref: SCTID:233665006 {source="MONDO:equivalentTo"}
xref: UMLS:C0340036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90947"}
is_a: MONDO:0016575 {source="MESH:C536287"} ! primary ciliary dyskinesia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia" xsd:anyURI {source="GARD:0002982"}

[Term]
id: MONDO:0009451
name: Nezelof syndrome
subset: gard_rare {source="GARD:7201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83471"}
subset: orphanet_rare {source="Orphanet:83471"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immune defect due to absence Of Thymus" RELATED [MESH:C536288]
synonym: "immune defect due to absence of THYMUS" RELATED [OMIM:242700]
synonym: "Nezelof syndrome" EXACT [OMIM:242700, Orphanet:83471]
synonym: "Nezelof's syndrome" EXACT [DOID:2012, ICD9CM:279.13]
synonym: "T-lymphocyte deficiency" EXACT [DOID:2012, OMIM:242700]
synonym: "thymic aplasia" RELATED [OMIM:242700]
xref: DOID:2012 {source="MONDO:equivalentTo"}
xref: GARD:7201 {source="MONDO:GARD"}
xref: ICD10CM:D81.4 {source="Orphanet:83471/specific", source="DOID:2012", source="Orphanet:83471/e", source="Orphanet:83471"}
xref: ICD9:279.13 {source="DOID:2012"}
xref: MEDGEN:101814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536288 {source="DOID:2012", source="MONDO:equivalentTo"}
xref: OMIM:242700 {source="DOID:2012", source="Orphanet:83471/e", source="MONDO:equivalentTo", source="Orphanet:83471"}
xref: Orphanet:83471 {source="MONDO:equivalentTo", source="OMIM:242700"}
xref: SCTID:55602000 {source="DOID:2012", source="MONDO:equivalentTo"}
xref: UMLS:C0152094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101814"}
is_a: MONDO:0001222 {source="DOID:2012"} ! congenital T-cell immunodeficiency

[Term]
id: MONDO:0009452
name: Vici syndrome
def: "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." [Orphanet:1493]
subset: gard_rare {source="GARD:448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1493"}
subset: ordo_malformation_syndrome {source="Orphanet:1493"}
subset: orphanet_rare {source="Orphanet:1493"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absent corpus callosum cataract immunodeficiency" RELATED [GARD:0000448]
synonym: "absent corpus callosum-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493]
synonym: "corpus callosum agenesis-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493]
synonym: "Dionisi Vici Sabetta Gambarara syndrome" RELATED [GARD:0000448]
synonym: "Dionisi-Vici-Sabetta-Gambarara syndrome" EXACT [Orphanet:1493]
synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum" RELATED [GARD:0000448]
synonym: "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum" RELATED [OMIM:242840]
synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [DOID:0060356]
synonym: "Vici syndrome" EXACT [MONDO:Lexical, OMIM:242840]
synonym: "VICIS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:242840]
xref: DOID:0060356 {source="MONDO:equivalentTo"}
xref: GARD:448 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1493/attributed", source="Orphanet:1493/ntbt", source="Orphanet:1493"}
xref: MEDGEN:340962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535566 {source="DOID:0060356", source="MONDO:equivalentTo"}
xref: NCIT:C138174 {source="MONDO:equivalentTo"}
xref: OMIM:242840 {source="DOID:0060356", source="Orphanet:1493/e", source="MONDO:equivalentTo", source="Orphanet:1493"}
xref: Orphanet:1493 {source="DOID:0060356", source="MONDO:equivalentTo", source="OMIM:242840"}
xref: SCTID:719824001 {source="MONDO:equivalentTo"}
xref: UMLS:C1855772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340962"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C138174", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0006025 {source="DOID:0060356", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015161 {source="Orphanet:1493"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0001644 {source="Orphanet:1493"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:1493", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0019290 {source="Orphanet:1493", source="https://orcid.org/0000-0001-5208-3432"} ! hypopigmentation of the skin
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:242840", source="Orphanet:1493"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29331 {source="MONDO:mim2gene_medgen"} ! EPG5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/448/vici-syndrome" xsd:anyURI {source="GARD:0000448"}

[Term]
id: MONDO:0009453
name: immune deficiency disease
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: immunodeficiency disease-MONDO:0021094
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "immune deficiency disease" EXACT [OMIM:242850]
xref: MEDGEN:340961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565469 {source="MONDO:equivalentTo"}
xref: OMIM:242850 {source="MONDO:equivalentTo"}
xref: UMLS:C1855771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340961"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder
relationship: excluded_subClassOf MONDO:0003778 {source="DC-OMIM:242850", source="MESH:C565469", source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7461" xsd:anyURI
property_value: IAO:0006012 "2024-06-01" xsd:string

[Term]
id: MONDO:0009454
name: immunodeficiency-centromeric instability-facial anomalies syndrome 1
def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "centromeric instability, immunodeficiency syndrome" RELATED [OMIM:242860]
synonym: "DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ICF syndrome 1" EXACT [DOID:0090008]
synonym: "ICF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:242860]
synonym: "immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16" RELATED [OMIM:242860]
synonym: "immunodeficiency syndrome, variable" RELATED [OMIM:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 1" EXACT [MONDO:Lexical, OMIM:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B" EXACT [MONDO:design_pattern]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 1" EXACT [MONDORULE:1, OMIM:242860]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 1" EXACT [DOID:0090008, MONDORULE:1]
xref: DOID:0090008 {source="MONDO:equivalentTo"}
xref: GARD:15188 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="DOID:0090008"}
xref: MEDGEN:1636193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C156430 {source="MONDO:equivalentTo"}
xref: OMIM:242860 {source="MONDO:equivalentTo", source="DOID:0090008"}
xref: Orphanet:2268 {source="OMIM:242860"}
xref: UMLS:C4551557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636193"}
is_a: MONDO:0000133 {source="DC-OMIM:242860", source="DOID:0090008", source="MONDO:Redundant", source="OMIM:242860"} ! immunodeficiency-centromeric instability-facial anomalies syndrome
intersection_of: MONDO:0000133 ! immunodeficiency-centromeric instability-facial anomalies syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2979 ! DNMT3B
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:242860"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2979 {source="MONDO:mim2gene_medgen"} ! DNMT3B

[Term]
id: MONDO:0009455
name: immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes
comment: This will be obsoleted in the 2024-09-01 release. The term will be split and the new ID for this term will be MONDO:0971006 (MHC class I deficiency 1), and MONDO:0971005 (MHC class II deficiency 1).
subset: obsoletion_candidate
synonym: "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes" EXACT [OMIM:242870]
xref: MEDGEN:340957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565468 {source="MONDO:equivalentTo"}
xref: OMIM:242870 {source="MONDO:equivalentTo"}
xref: UMLS:C1855762 {source="MEDGEN:340957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7780" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0009456
name: Immunoerythromyeloid hypoplasia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Immunoerythromyeloid hypoplasia" EXACT [OMIM:242880]
xref: OMIM:242880 {source="MONDO:equivalentTo"}
is_a: MONDO:0009973 ! reticular dysgenesis

[Term]
id: MONDO:0009457
name: immunoglobulin d level in plasma, low
synonym: "IMMUNOGLOBULIN D level in plasma, LOW" RELATED [OMIM:242890]
xref: MEDGEN:344569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:242890 {source="MONDO:equivalentTo"}
xref: UMLS:C1855761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344569"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009458
name: Schimke immuno-osseous dysplasia
def: "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." [https://orcid.org/0000-0001-5208-3432, Orphanet:1830]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4984", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1691", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1830"}
subset: orphanet_rare {source="Orphanet:1830"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunoosseous dysplasia Schimke type" EXACT [DOID:0060490]
synonym: "IMMUNOOSSEOUS dysplasia, Schimke type" RELATED [OMIM:242900]
synonym: "Schimke immuno-osseous dysplasia" EXACT CLINGEN_LABEL []
synonym: "Schimke IMMUNOOSSEOUS dysplasia" RELATED [OMIM:242900]
synonym: "Schimke Immunoosseous dysplasia" RELATED [OMIM:242900]
synonym: "Schimke immunoosseous dysplasia" EXACT [DOID:0060490]
synonym: "Schimke syndrome" EXACT [DOID:0060490, Orphanet:1830]
synonym: "SIOD" RELATED ABBREVIATION [GARD:0004984, OMIM:242900]
synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [DOID:0060490]
synonym: "spondyloepiphyseal dysplasia nephrotic syndrome" RELATED [GARD:0004984]
synonym: "spondyloepiphyseal dysplasia-nephrotic syndrome" EXACT [Orphanet:1830]
xref: DOID:0060490 {source="MONDO:equivalentTo"}
xref: GARD:4984 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:1830", source="Orphanet:1830/attributed", source="Orphanet:1830/ntbt"}
xref: MedDRA:10048699 {source="Orphanet:1830", source="Orphanet:1830/e"}
xref: MEDGEN:164078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536629 {source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"}
xref: NANDO:1200337 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200711 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C135087 {source="MONDO:equivalentTo"}
xref: NORD:1691 {source="MONDO:NORD"}
xref: OMIM:242900 {source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"}
xref: Orphanet:1830 {source="OMIM:242900", source="MONDO:equivalentTo", source="DOID:0060490"}
xref: SCTID:723995003 {source="MONDO:equivalentTo"}
xref: UMLS:C0877024 {source="MEDGEN:164078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015708 {source="Orphanet:1830"} ! immuno-osseous dysplasia
is_a: MONDO:0016761 {source="DOID:0060490", source="Orphanet:1830", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11102 {source="MONDO:mim2gene_medgen"} ! SMARCAL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009459
name: channelopathy-associated congenital insensitivity to pain, autosomal recessive
def: "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" [MESH:D000699]
subset: gard_rare {source="GARD:12267", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88642"}
subset: orphanet_rare {source="Orphanet:88642"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asymbolia for pain" RELATED [OMIM:243000]
synonym: "channelopathy-associated CIP" EXACT [Orphanet:88642]
synonym: "CIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243000]
synonym: "congenital analgesia, autosomal recessive" RELATED [OMIM:243000]
synonym: "HSAN2D" RELATED ABBREVIATION [OMIM:243000]
synonym: "HSAN2D, AR" RELATED [OMIM:243000]
synonym: "indifference to pain, congenital, autosomal recessive" RELATED [MONDO:Lexical, OMIM:243000]
synonym: "insensitivity to pain, channelopathy-associated" RELATED [OMIM:243000]
synonym: "insensitivity to pain, congenital" EXACT [OMIM:243000, OMIM:genemap2]
synonym: "neuropathy, hereditary sensory and autonomic, type 2D" RELATED [OMIM:243000]
synonym: "neuropathy, hereditary sensory and autonomic, type IID" EXACT [OMIM:243000, OMIM:genemap2]
xref: GARD:12267 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:88642", source="Orphanet:88642/attributed", source="Orphanet:88642/ntbt"}
xref: MEDGEN:344563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000699 {source="Orphanet:88642", source="Orphanet:88642/e"}
xref: MESH:D009477 {source="Orphanet:88642", source="Orphanet:88642/e"}
xref: OMIM:243000 {source="Orphanet:88642", source="MONDO:equivalentTo", source="Orphanet:88642/e"}
xref: Orphanet:88642 {source="MONDO:equivalentTo", source="OMIM:243000"}
xref: Orphanet:970 {source="OMIM:243000"}
xref: UMLS:C1855739 {source="MEDGEN:344563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009460
name: indolylacroyl glycinuria with intellectual disability
synonym: "indolylacroyl glycinuria with intellectual disability" EXACT [OMIM:243050]
synonym: "indolylacroyl glycinuria with mental retardation" EXACT DEPRECATED [OMIM:243050]
xref: MEDGEN:340949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565466 {source="MONDO:equivalentTo"}
xref: OMIM:243050 {source="MONDO:equivalentTo"}
xref: UMLS:C1855738 {source="MEDGEN:340949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565466/inferred"} ! hereditary disease

[Term]
id: MONDO:0009461
name: spermatogenic failure 5
def: "Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)." [Orphanet:137893]
subset: gard_rare {source="GARD:12385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:137893"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" RELATED [OMIM:243060]
synonym: "infertility associated with multitailed spermatozoa and excessive DNA" RELATED [OMIM:243060]
synonym: "macrocephalic sperm head syndrome" EXACT [Orphanet:137893]
synonym: "macrozoospermia" RELATED [GARD:0012385]
synonym: "male infertility due to large-headed multiflagellar polyploid spermatozoa" EXACT [Orphanet:137893]
synonym: "male infertility due to macrozoospermia" EXACT [Orphanet:137893]
synonym: "male infertility with large-headed, multiflagellar, polyploid spermatozoa" EXACT [OMIM:243060]
synonym: "spermatogenic failure 5" EXACT [MONDO:Lexical, OMIM:243060]
synonym: "spermatogenic failure type 5" EXACT [MONDORULE:1, OMIM:243060]
synonym: "SPGF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243060]
xref: DOID:0070183 {source="MONDO:equivalentTo"}
xref: GARD:12385 {source="MONDO:GARD"}
xref: ICD10CM:N46 {source="Orphanet:137893/attributed", source="Orphanet:137893/ntbt", source="Orphanet:137893"}
xref: MEDGEN:98020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562903 {source="MONDO:equivalentTo"}
xref: OMIM:243060 {source="Orphanet:137893/e", source="MONDO:equivalentTo", source="Orphanet:137893"}
xref: Orphanet:137893 {source="OMIM:243060", source="MONDO:equivalentTo"}
xref: Orphanet:399808 {source="OMIM:243060"}
xref: SCTID:236806004 {source="MONDO:equivalentTo"}
xref: UMLS:C0403812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98020"}
is_a: MONDO:0004983 {source="DC-OMIM:243060", source="OMIM:243060"} ! spermatogenic failure
is_a: MONDO:0018394 {source="Orphanet:137893"} ! male infertility with teratozoospermia due to single gene mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11391 {source="MONDO:mim2gene_medgen"} ! AURKC

[Term]
id: MONDO:0009462
name: inosine phosphorylase deficiency, immune defect due to
synonym: "inosine phosphorylase deficiency, immune defect due to" EXACT [OMIM:243080]
xref: MEDGEN:344562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565465 {source="MONDO:equivalentTo"}
xref: OMIM:243080 {source="MONDO:equivalentTo"}
xref: UMLS:C1855737 {source="MEDGEN:344562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009463
name: internal carotid arteries, hypoplasia of
synonym: "internal carotid arteries, hypoplasia of" EXACT [OMIM:243100]
xref: MEDGEN:383757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:243100 {source="MONDO:equivalentTo"}
xref: UMLS:C1855736 {source="MEDGEN:383757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009464
name: immunodeficiency with defective T-cell response to interleukin 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "immunodeficiency with defective T-cell response to interleukin 1" EXACT [OMIM:243110]
synonym: "immunodeficiency with defective T-cell response to Interleukin type 1" EXACT [MONDORULE:1, OMIM:243110]
synonym: "Interleukin 1, defective T-cell response to" RELATED [OMIM:243110]
xref: MEDGEN:340948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:243110 {source="MONDO:equivalentTo"}
xref: UMLS:C1855735 {source="MEDGEN:340948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DC-OMIM:243110"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009465
name: multiple intestinal atresia
def: "A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns." [https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3013", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2300"}
subset: ordo_morphological_anomaly {source="Orphanet:2300"}
subset: orphanet_rare {source="Orphanet:2300"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CID-MIA/early-onset IBD" RELATED [Orphanet:436252]
synonym: "combined immunodeficiency-enteropathy spectrum" RELATED [Orphanet:436252]
synonym: "familial intestinal polyatresia syndrome" RELATED [OMIM:243150, Orphanet:2300]
synonym: "gastrointestinal defects and immunodeficiency syndrome" RELATED [MONDO:Lexical, OMIM:243150]
synonym: "GIDID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243150]
synonym: "intestinal atresia multiple" RELATED [GARD:0003013]
synonym: "intestinal atresia, multiple" RELATED [OMIM:243150]
synonym: "intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency" RELATED [OMIM:243150]
synonym: "multiple gastrointestinal atresias" EXACT [DOID:14671]
synonym: "multiple intestinal atresia" EXACT CLINGEN_LABEL []
xref: DOID:14671 {source="MONDO:equivalentTo"}
xref: GARD:3013 {source="MONDO:GARD"}
xref: ICD10CM:Q43.8 {source="Orphanet:2300", source="Orphanet:2300/attributed", source="Orphanet:2300/ntbt"}
xref: ICD10CM:Q82.8 {source="Orphanet:436252/attributed", source="Orphanet:436252/ntbt", source="Orphanet:436252"}
xref: ICD9:751.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10028210 {source="Orphanet:2300", source="Orphanet:2300/e"}
xref: MEDGEN:65090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562441 {source="MONDO:equivalentTo", source="DOID:14671"}
xref: Orphanet:2300 {source="OMIM:243150", source="MONDO:equivalentTo"}
xref: Orphanet:436252 {source="MONDO:relatedTo"}
xref: SCTID:95472001 {source="MONDO:equivalentTo", source="DOID:14671"}
xref: UMLS:C0220744 {source="MEDGEN:65090", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:14671", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015212 {source="Orphanet:436252", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic intestinal malformation
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:243150", source="Orphanet:2300", source="Orphanet:436252"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19750 {source="MONDO:mim2gene_medgen"} ! TTC7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple" xsd:anyURI {source="GARD:0003013"}

[Term]
id: MONDO:0009466
name: obsolete neuronal intestinal pseudoobstruction
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3684" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0023961

[Term]
id: MONDO:0009467
name: natal teeth-intestinal pseudoobstruction-patent ductus syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1654"}
subset: otar {source="MONDO:OTAR"}
synonym: "intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth" RELATED [OMIM:243185]
synonym: "Natal teeth, intestinal pseudoobstruction and patent ductus" RELATED [GARD:0003928]
xref: ICD10CM:Q87.8 {source="Orphanet:1654", source="Orphanet:1654/attributed", source="Orphanet:1654/ntbt"}
xref: MEDGEN:340945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538341 {source="MONDO:equivalentTo"}
xref: OMIM:243185 {source="MONDO:equivalentTo", source="Orphanet:1654", source="Orphanet:1654/e"}
xref: Orphanet:1654 {source="MONDO:equivalentObsolete", source="OMIM:243185"}
xref: UMLS:C1855732 {source="MEDGEN:340945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:1654", source="Orphanet:1654/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0009468
name: pseudotumor cerebri
def: "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." [Orphanet:238624]
subset: gard_rare {source="GARD:4561", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1294", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238624"}
subset: orphanet_rare {source="Orphanet:238624"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign intracran. hypt." EXACT [DOID:11459]
synonym: "benign intracranial hypertension" EXACT [DOID:11459, ICD9CM:348.2, Orphanet:238624]
synonym: "Idiopathic Intracranial Hypertension" EXACT [NORD:1294]
synonym: "idiopathic intracranial hypertension" EXACT [DOID:11459]
synonym: "IIH" EXACT ABBREVIATION [Orphanet:238624]
synonym: "intracranial hypertension, idiopathic" RELATED [OMIM:243200]
synonym: "pseudotumor cerebri" EXACT [DOID:11459, OMIM:243200, Orphanet:238624]
xref: DOID:11459 {source="EFO:1001132", source="MONDO:equivalentTo"}
xref: EFO:1001132 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4561 {source="MONDO:GARD"}
xref: ICD10CM:G93.2 {source="DOID:11459", source="Orphanet:238624", source="Orphanet:238624/e"}
xref: ICD9:348.2 {source="DOID:11459", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10037149 {source="EFO:1001132"}
xref: MEDGEN:18732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011559 {source="DOID:11459", source="EFO:1001132", source="MONDO:equivalentTo"}
xref: NCIT:C85035 {source="DOID:11459", source="EFO:1001132", source="MONDO:equivalentTo"}
xref: NORD:1294 {source="MONDO:NORD"}
xref: OMIM:243200 {source="DOID:11459", source="Orphanet:238624", source="MONDO:equivalentTo", source="Orphanet:238624/e"}
xref: Orphanet:238624 {source="MONDO:equivalentTo", source="OMIM:243200"}
xref: SCTID:155052007 {source="DOID:11459"}
xref: SCTID:267701004 {source="DOID:11459"}
xref: SCTID:68267002 {source="DOID:11459", source="MONDO:equivalentTo"}
xref: UMLS:C0033845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18732"}
is_a: MONDO:0006810 {source="DOID:11459", source="EFO:1001132", source="MESH:D011559"} ! intracranial hypertension
is_a: MONDO:0011057 {source="DOID:11459"} ! cerebrovascular disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4561/pseudotumor-cerebri" xsd:anyURI {source="GARD:0004561"}

[Term]
id: MONDO:0009469
name: benign recurrent intrahepatic cholestasis type 1
def: "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." [GARD:0010028]
subset: gard_rare {source="GARD:10028", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99960"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATP8B1 benign recurrent intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "benign recurrent intrahepatic cholestasis 1" RELATED [GARD:0010028]
synonym: "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" EXACT [MONDO:design_pattern]
synonym: "Bric type 1" EXACT [Orphanet:99960]
synonym: "BRIC1" EXACT ABBREVIATION [GARD:0010028, MONDO:Lexical, OMIM:243300, Orphanet:99960]
synonym: "cholestasis, benign recurrent intrahepatic" BROAD [OMIM:243300, OMIM:genemap2]
synonym: "cholestasis, benign recurrent intrahepatic 1" RELATED [GARD:0010028]
synonym: "cholestasis, benign recurrent intrahepatic, 1" RELATED [MONDO:Lexical, OMIM:243300]
synonym: "cholestasis, benign recurrent intrahepatic, type 1" EXACT [MONDORULE:1, OMIM:243300]
synonym: "mild ATP8B1 deficiency" RELATED [GARD:0010028]
synonym: "recurrent familial intrahepatic cholestasis 1" RELATED [GARD:0010028]
synonym: "Summerskill syndrome" RELATED [GARD:0010028, OMIM:243300]
xref: DOID:0070231 {source="MONDO:equivalentTo"}
xref: GARD:10028 {source="MONDO:GARD"}
xref: ICD10CM:K83.1 {source="Orphanet:99960/attributed", source="Orphanet:99960/ntbt", source="Orphanet:99960"}
xref: MEDGEN:1637492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535930 {source="Orphanet:99960/e", source="Orphanet:99960"}
xref: OMIM:243300 {source="Orphanet:99960/e", source="MONDO:equivalentTo", source="GARD:0010028", source="Orphanet:99960"}
xref: Orphanet:65682 {source="OMIM:243300"}
xref: Orphanet:99960 {source="MONDO:equivalentTo", source="OMIM:243300"}
xref: UMLS:C4551899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637492"}
is_a: MONDO:0015762 ! progressive familial intrahepatic cholestasis
is_a: MONDO:0019008 {source="MONDO:Redundant", source="OMIM:243300", source="Orphanet:99960"} ! benign recurrent intrahepatic cholestasis
intersection_of: MONDO:0019008 ! benign recurrent intrahepatic cholestasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 ! ATP8B1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1" xsd:anyURI {source="GARD:0010028"}

[Term]
id: MONDO:0009470
name: Baraitser-Winter syndrome 1
def: "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTB Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ACTB-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB" EXACT [MONDO:design_pattern]
synonym: "Baraitser-WINTER syndrome 1" RELATED [OMIM:243310]
synonym: "Baraitser-Winter syndrome 1" EXACT [MONDO:Lexical, OMIM:243310]
synonym: "Baraitser-Winter syndrome type 1" EXACT [MONDORULE:1, OMIM:243310]
synonym: "BRWS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243310]
synonym: "cerebrofrontofacial syndrome" EXACT [OMIM:243310]
synonym: "cerebrooculofacial lymphatic syndrome" RELATED [OMIM:243310]
synonym: "chromosome 7P22 deletion syndrome" RELATED [OMIM:243310]
synonym: "Fryns-Aftimos syndrome" EXACT [OMIM:243310]
synonym: "intellectual disability with epilepsy and characteristic facies" RELATED [OMIM:243310]
synonym: "iris coloboma with ptosis, hypertelorism, and intellectual disability" RELATED [OMIM:243310]
synonym: "iris coloboma with ptosis, hypertelorism, and mental retardation" RELATED DEPRECATED [OMIM:243310]
synonym: "mental retardation with epilepsy and characteristic facies" RELATED DEPRECATED [OMIM:243310]
synonym: "pachygyria, intellectual disability, epilepsy, and characteristic facies" RELATED [OMIM:243310]
synonym: "pachygyria, mental retardation, epilepsy, and characteristic facies" RELATED DEPRECATED [OMIM:243310]
xref: DOID:0081112 {source="MONDO:equivalentTo"}
xref: GARD:15189 {source="MONDO:GARD"}
xref: MEDGEN:340943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:243310 {source="MONDO:equivalentTo"}
xref: Orphanet:2995 {source="OMIM:243310"}
xref: UMLS:C1855722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340943"}
is_a: MONDO:0017579 {source="DC-OMIM:243310", source="MONDO:Redundant", source="OMIM:243310"} ! Baraitser-Winter cerebrofrontofacial syndrome
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
intersection_of: MONDO:0017579 ! Baraitser-Winter cerebrofrontofacial syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/132 ! ACTB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/132 {source="MONDO:mim2gene_medgen"} ! ACTB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0009471
name: intrinsic factor and r binder, combined congenital deficiency of
subset: gard_rare {source="GARD:15190", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intrinsic factor and r binder, combined congenital deficiency of" EXACT [OMIM:243320]
xref: GARD:15190 {source="MONDO:GARD"}
xref: MEDGEN:340942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565461 {source="MONDO:equivalentTo"}
xref: OMIM:243320 {source="MONDO:equivalentTo"}
xref: Orphanet:332 {source="OMIM:243320"}
xref: UMLS:C1855721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340942"}
is_a: MONDO:0009852 {source="Orphanet:332/btnt"} ! hereditary intrinsic factor deficiency

[Term]
id: MONDO:0009472
name: acetylation, slow
synonym: "acetylation, Fast" RELATED [OMIM:243400]
synonym: "acetylation, slow" EXACT [OMIM:243400, OMIM:genemap2]
synonym: "Fast acetylator phenotype" RELATED [OMIM:243400]
synonym: "INH inactivation, Fast" RELATED [OMIM:243400]
synonym: "INH inactivation, slow" RELATED [OMIM:243400]
synonym: "Isoniazid inactivation, slow" RELATED [OMIM:243400]
synonym: "slow acetylator phenotype" RELATED [OMIM:243400]
xref: MEDGEN:164207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:243400 {source="MONDO:equivalentTo"}
xref: UMLS:C0878587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164207"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7646 {source="MONDO:mim2gene_medgen"} ! NAT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009473
name: isotretinoin-like syndrome
def: "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." [Orphanet:2306]
subset: gard_rare {source="GARD:9675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2306"}
subset: ordo_malformation_syndrome {source="Orphanet:2306"}
subset: orphanet_rare {source="Orphanet:2306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Isotretinoin embryopathy like syndrome" RELATED [GARD:0009675]
synonym: "ISOTRETINOIN embryopathy-like syndrome" RELATED [OMIM:243440]
synonym: "Kawashima syndrome" EXACT [Orphanet:2306]
synonym: "microtia aortic arch syndrome" RELATED [GARD:0009675]
synonym: "microtia-aortic Arch syndrome" RELATED [OMIM:243440]
synonym: "microtia-aortic arch syndrome" EXACT [Orphanet:2306]
synonym: "syndrome of microtia and aortic arch anomalies" RELATED [GARD:0009675]
xref: GARD:9675 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2306", source="Orphanet:2306/attributed", source="Orphanet:2306/ntbt"}
xref: MEDGEN:96600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535542 {source="MONDO:equivalentTo"}
xref: OMIM:243440 {source="MONDO:equivalentTo", source="Orphanet:2306", source="Orphanet:2306/e"}
xref: Orphanet:2306 {source="MONDO:equivalentTo", source="OMIM:243440"}
xref: SCTID:722006004 {source="MONDO:equivalentTo"}
xref: UMLS:C0432364 {source="MEDGEN:96600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:2306"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:2306", source="Orphanet:2306/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0009474
name: isovaleric acid, inability to smell
synonym: "isovaleric acid, inability to smell" EXACT [OMIM:243450]
xref: MEDGEN:383751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:243450 {source="MONDO:equivalentTo"}
xref: UMLS:C1855714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383751"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009475
name: isovaleric acidemia
def: "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." [Orphanet:33]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:465", source="MONDO:GARD"}
subset: nord_rare {source="NORD:712", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33"}
subset: orphanet_rare {source="Orphanet:33"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [DOID:14753, Orphanet:33]
synonym: "isovaleric acid Coa dehydrogenase deficiency" RELATED [OMIM:243500]
synonym: "isovaleric acidemia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:243500]
synonym: "isovaleric aciduria" EXACT [DOID:14753]
synonym: "Isovalericacidemia" EXACT [NCIT:C98964]
synonym: "isovaleryl CoA carboxylase deficiency" RELATED [GARD:0000465]
synonym: "isovaleryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98964]
synonym: "IVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243500]
synonym: "IVD deficiency" RELATED [OMIM:243500]
xref: DOID:14753 {source="MONDO:equivalentTo"}
xref: GARD:465 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:33/ntbt", source="Orphanet:33", source="Orphanet:33/inclusion"}
xref: ICD10CM:E71.110 {source="MONDO:equivalentTo", source="DOID:14753"}
xref: MEDGEN:82822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538167 {source="Orphanet:33", source="MONDO:equivalentTo", source="Orphanet:33/e", source="DOID:14753"}
xref: NANDO:1200798 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200494 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98964 {source="MONDO:equivalentTo", source="DOID:14753"}
xref: NORD:712 {source="MONDO:NORD"}
xref: OMIM:243500 {source="Orphanet:33", source="MONDO:equivalentTo", source="Orphanet:33/e", source="DOID:14753"}
xref: Orphanet:33 {source="MONDO:equivalentTo", source="OMIM:243500"}
xref: SCTID:87827003 {source="MONDO:equivalentTo", source="DOID:14753"}
xref: UMLS:C0268575 {source="MEDGEN:82822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000688 {source="DOID:14753", source="MONDO:Redundant", source="NCIT:C98964", source="Orphanet:33/inferred", source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0019215 {source="Orphanet:33"} ! classic organic aciduria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6186 {source="MONDO:mim2gene_medgen"} ! IVD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia" xsd:anyURI {source="GARD:0000465"}

[Term]
id: MONDO:0009476
name: atresia of small intestine
def: "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases." [Orphanet:1201]
subset: gard_rare {source="GARD:140", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1309", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1201"}
subset: ordo_morphological_anomaly {source="Orphanet:1201"}
subset: orphanet_rare {source="Orphanet:1201"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "apple peel small bowel syndrome" RELATED [OMIM:243600]
synonym: "apple peel syndrome" EXACT [Orphanet:1201]
synonym: "apple-peel intestinal atresia" RELATED [GARD:0006799]
synonym: "APSB" RELATED ABBREVIATION [GARD:0006799]
synonym: "atresia of the small intestine" EXACT [NCIT:C98828]
synonym: "congenital atresia of the small intestine" RELATED [GARD:0000140]
synonym: "congenital small intestine atresia" EXACT [NCIT:C98828]
synonym: "familial apple peel jejunal atresia" RELATED [GARD:0006799]
synonym: "intestinal atresia type IIIb" EXACT [Orphanet:1201]
synonym: "Jejunal Atresia" EXACT [NORD:1309]
synonym: "jejunal atresia" EXACT [Orphanet:1201]
synonym: "Jejunoileal atresia" EXACT [GARD:0000140, Orphanet:1201]
synonym: "small intestinal atresia" EXACT [Orphanet:1201]
synonym: "small intestine atresia" EXACT [GARD:0000140, NCIT:C98828]
xref: GARD:140 {source="MONDO:GARD"}
xref: ICD10CM:Q41.0 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"}
xref: ICD10CM:Q41.1 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"}
xref: ICD10CM:Q41.2 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"}
xref: ICD10CM:Q41.8 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"}
xref: ICD10CM:Q41.9 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"}
xref: icd11.foundation:1949256262 {source="Orphanet:1201", source="MONDO:equivalentTo"}
xref: MedDRA:10010626 {source="Orphanet:1201", source="Orphanet:1201/e"}
xref: MEDGEN:78590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538260 {source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e"}
xref: NCIT:C98828 {source="MONDO:equivalentTo"}
xref: NORD:1309 {source="MONDO:NORD"}
xref: OMIM:243600 {source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e"}
xref: Orphanet:1201 {source="MONDO:equivalentTo", source="OMIM:243600", source="GARD:0000140"}
xref: UMLS:C0266172 {source="MEDGEN:78590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
is_a: MONDO:0024635 {source="https://orcid.org/0000-0002-3458-4839"} ! small intestine disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0009477
name: Stromme syndrome
def: "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." [https://www.ncbi.nlm.nih.gov/gtr/conditions/C1855705/]
subset: gard_rare {source="GARD:17945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444069", source="Orphanet:506307"}
subset: ordo_malformation_syndrome {source="Orphanet:444069"}
subset: orphanet_rare {source="Orphanet:444069", source="Orphanet:506307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [DOID:0110595]
synonym: "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome" EXACT [Orphanet:506307]
synonym: "CILD31" EXACT DEPRECATED [DOID:0110595, MONDO:Lexical, OMIM:616369]
synonym: "ciliary dyskinesia, primary, 31" RELATED [MONDO:Lexical, OMIM:616369]
synonym: "ciliary dyskinesia, primary, 31, formerly" RELATED DEPRECATED [OMIM:243605]
synonym: "ciliary dyskinesia, primary, type 31" EXACT [MONDORULE:2, OMIM:616369]
synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT [DOID:0110595, OMIM:243605]
synonym: "jejunal atresia-microcephaly-ocular anomalies syndrome" EXACT [Orphanet:506307]
synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [DOID:0110595]
synonym: "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT OMO:0003005 []
synonym: "primary ciliary dyskinesia 31" EXACT DEPRECATED [DOID:0110595]
synonym: "Stromme syndrome" EXACT [OMIM:243605]
synonym: "STROMS" RELATED ABBREVIATION [OMIM:243605]
xref: DOID:0110595 {source="MONDO:equivalentTo"}
xref: EFO:0009160 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17945 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:444069", source="Orphanet:444069/attributed", source="Orphanet:444069/ntbt", source="DOID:0110595"}
xref: MEDGEN:340938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565460 {source="MONDO:equivalentTo"}
xref: OMIM:243605 {source="Orphanet:444069", source="Orphanet:506307", source="Orphanet:444069/nd", source="MONDO:equivalentTo", source="DOID:0110595"}
xref: OMIM:616369 {source="Orphanet:444069", source="MONDO:equivalentObsolete", source="Orphanet:444069/e"}
xref: Orphanet:444069 {source="MONDO:equivalentTo"}
xref: Orphanet:506307 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1855705 {source="MEDGEN:340938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:506307"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016575 {source="DC-OMIM:616369"} ! primary ciliary dyskinesia
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:444069"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:506307", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1857 {source="MONDO:mim2gene_medgen"} ! CENPF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0009478
name: combined immunodeficiency due to DOCK8 deficiency
def: "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." [Orphanet:217390]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217390"}
subset: orphanet_rare {source="Orphanet:217390"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR hyperimmunoglobulin E syndrome" RELATED [GARD:0002816]
synonym: "AR-HIES" RELATED [GARD:0002816]
synonym: "autosomal recessive hyper IgE syndrome" RELATED [GARD:0002816]
synonym: "Cid due to DOCK8 deficiency" EXACT [Orphanet:217390]
synonym: "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency" EXACT [Orphanet:217390]
synonym: "combined immunodeficiency due to DOCK8 deficiency" EXACT CLINGEN_LABEL []
synonym: "dedicator of cytokinesis 8 deficiency" EXACT [NCIT:C126343]
synonym: "DOCK8 deficiency" RELATED [GARD:0002816]
synonym: "DOCK8 immunodeficiency syndrome" EXACT [Orphanet:217390]
synonym: "HIES autosomal recessive" RELATED [GARD:0002816]
synonym: "HIES, autosomal recessive" RELATED [OMIM:243700]
synonym: "hyper Ig E syndrome, autosomal recessive" RELATED [GARD:0002816]
synonym: "hyper-IgE recurrent infection syndrome, autosomal recessive" RELATED [OMIM:243700]
synonym: "hyper-IgE syndrome, autosomal recessive" RELATED [OMIM:243700]
synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" RELATED [GARD:0002816]
xref: DOID:0080594 {source="MONDO:equivalentTo"}
xref: GARD:2816 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="Orphanet:217390/attributed", source="Orphanet:217390/ntbt", source="Orphanet:217390"}
xref: MEDGEN:1648410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126343 {source="MONDO:equivalentTo"}
xref: OMIM:243700 {source="Orphanet:217390", source="MONDO:equivalentTo", source="Orphanet:217390/e", source="GARD:0002816"}
xref: Orphanet:169446 {source="OMIM:243700", source="GARD:0002816"}
xref: Orphanet:217390 {source="MONDO:equivalentTo", source="OMIM:243700"}
xref: UMLS:C4722305 {source="MEDGEN:1648410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018037 {source="OMIM:243700"} ! hyper-IgE syndrome
intersection_of: MONDO:0018037 ! hyper-IgE syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 ! DOCK8
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:217390", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 {source="MONDO:mim2gene_medgen"} ! DOCK8
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome" xsd:anyURI {source="GARD:0002816"}

[Term]
id: MONDO:0009479
name: Johanson-Blizzard syndrome
def: "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." [Orphanet:2315]
subset: gard_rare {source="GARD:80", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1311"}
subset: ordo_disorder {source="Orphanet:2315"}
subset: ordo_malformation_syndrome {source="Orphanet:2315"}
subset: orphanet_rare {source="Orphanet:2315"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JBS" EXACT ABBREVIATION [Orphanet:2315]
synonym: "Johanson-BLIZZARD syndrome" RELATED [OMIM:243800]
synonym: "Johanson-Blizzard syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:243800]
synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness" RELATED [GARD:0000080]
synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" RELATED [OMIM:243800]
synonym: "pancreatic insufficiency, combined exocrine" EXACT [OMIM:260450]
xref: DOID:14694 {source="MONDO:equivalentTo"}
xref: GARD:80 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2315", source="Orphanet:2315/attributed", source="Orphanet:2315/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:59798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535880 {source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="Orphanet:2315/e"}
xref: MESH:C564907 {source="MONDO:equivalentTo"}
xref: MESH:D003638 {source="EFO:0001063"}
xref: NCIT:C27644 {source="EFO:0001063"}
xref: NORD:1311 {source="MONDO:NORD"}
xref: OMIM:243800 {source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="GARD:0000080", source="Orphanet:2315/e", source="EFO:0001063"}
xref: OMIM:260450 {source="MONDO:equivalentObsolete"}
xref: Orphanet:2315 {source="MONDO:equivalentTo", source="GARD:0000080", source="OMIM:243800"}
xref: SCTID:162344009 {source="EFO:0001063"}
xref: SCTID:75979009 {source="MONDO:equivalentTo", source="DOID:14694"}
xref: UMLS:C0175692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:59798"}
is_a: MONDO:0005365 {source="EFO:0001063", source="MESH:C535880/inferred", source="MONDO:Redundant"} ! hearing loss disorder
is_a: MONDO:0006025 {source="DOID:14694", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2315"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2315", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:2315", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation
relationship: excluded_subClassOf MONDO:0015778 {source="Orphanet:2315", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hypothyroidism
relationship: excluded_subClassOf MONDO:0018762 {source="https://orcid.org/0000-0001-5208-3432"} ! non-acquired combined pituitary hormone deficiency
relationship: excluded_subClassOf MONDO:0019287 {source="MESH:C535880", source="Orphanet:2315", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:243800", source="Orphanet:2315"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16808 {source="MONDO:mim2gene_medgen"} ! UBR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009480
name: Joubert syndrome with oculorenal defect
def: "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." [Orphanet:2318]
subset: gard_rare {source="GARD:9455", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2318"}
subset: orphanet_rare {source="Orphanet:2318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arima syndrome" EXACT [Orphanet:2318]
synonym: "cerebello-oculo-renal syndrome" RELATED [GARD:0009455]
synonym: "Cerebellooculorenal syndrome" EXACT [Orphanet:2318]
synonym: "cerebro-oculo-hepato-renal syndrome" RELATED [GARD:0009455]
synonym: "cerebrooculohepatorenal syndrome" RELATED [OMIM:243910]
synonym: "chorioretinal coloboma with cerebellar vermis aplasia" RELATED [GARD:0009455]
synonym: "coloboma, chorioretinal, with cerebellar vermis aplasia" RELATED [OMIM:243910]
synonym: "CORS" EXACT ABBREVIATION [Orphanet:2318]
synonym: "Dekaban Arima syndrome" RELATED [GARD:0009455]
synonym: "Dekaban-Arima syndrome" EXACT [Orphanet:2318]
synonym: "Joubert syndrome 5" RELATED [GARD:0009455]
synonym: "Joubert syndrome with bilateral chorioretinal coloboma" RELATED [GARD:0009455, OMIM:243910]
synonym: "Joubert syndrome with oculorenal anomalies" RELATED [GARD:0009455]
synonym: "Joubert syndrome with oculorenal defect" EXACT [GARD:0009455]
synonym: "Joubert syndrome with Senior-Loken syndrome" EXACT [Orphanet:2318]
synonym: "JS type B" EXACT [GARD:0009455, Orphanet:2318]
synonym: "JS-OR" EXACT [GARD:0009455, Orphanet:2318]
xref: GARD:9455 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:2318/attributed", source="Orphanet:2318/ntbt", source="Orphanet:2318"}
xref: MEDGEN:340930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537430 {source="MONDO:equivalentTo"}
xref: NANDO:1200662 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:243910 {source="Orphanet:2318/e", source="MONDO:equivalentTo", source="Orphanet:2318", source="GARD:0009455"}
xref: Orphanet:2318 {source="MONDO:equivalentTo", source="GARD:0009455", source="OMIM:243910"}
xref: SCTID:721862000 {source="MONDO:equivalentTo"}
xref: UMLS:C1855675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340930"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015369 {source="Orphanet:2318"} ! Joubert syndrome and related disorders
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2318", source="Orphanet:2318/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies" xsd:anyURI {source="GARD:0009455"}

[Term]
id: MONDO:0009481
name: Jumping Frenchmen of Maine
synonym: "'jumpers' of Maine" RELATED [GARD:0006803]
synonym: "exaggerated startle reflex" RELATED [GARD:0006803]
synonym: "Jumping Frenchmen of Maine" EXACT [OMIM:244100]
xref: MEDGEN:224824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:244100 {source="MONDO:equivalentTo"}
xref: UMLS:C1280764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224824"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009482
name: hypogonadotropic hypogonadism 3 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3073", source="MONDO:GARD"}
subset: rare
synonym: "HH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244200]
synonym: "hypogonadotropic hypogonadism 3 with or without anosmia" EXACT [MONDO:Lexical, OMIM:244200]
synonym: "hypogonadotropic hypogonadism caused by mutation in PROKR2" EXACT [MONDO:design_pattern]
synonym: "KAL3" RELATED ABBREVIATION [GARD:0003073]
synonym: "Kallmann syndrome 3" RELATED [GARD:0003073]
synonym: "PROKR2 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090092 {source="MONDO:equivalentTo"}
xref: GARD:3073 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090092"}
xref: MEDGEN:763392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:244200 {source="MONDO:equivalentTo", source="DOID:0090092"}
xref: Orphanet:478 {source="OMIM:244200"}
xref: UMLS:C3550478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763392"}
is_a: MONDO:0018555 {source="DOID:0090092", source="MONDO:0009482/inferred", source="MONDO:Redundant", source="OMIM:244200"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15836 ! PROKR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15836 {source="MONDO:mim2gene_medgen"} ! PROKR2

[Term]
id: MONDO:0009483
name: Kapur-Toriello syndrome
def: "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." [Orphanet:2328]
subset: gard_rare {source="GARD:3078", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2328"}
subset: ordo_malformation_syndrome {source="Orphanet:2328"}
subset: orphanet_rare {source="Orphanet:2328"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" EXACT [Orphanet:2328]
synonym: "kapur Toriello syndrome" RELATED [GARD:0003078]
synonym: "kapur-Toriello syndrome" EXACT [OMIM:244300]
synonym: "long columella with cleft lip/palate and eye, heart and intestinal anomalies" RELATED [GARD:0003078]
synonym: "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" RELATED [OMIM:244300]
xref: GARD:3078 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2328", source="Orphanet:2328/attributed", source="Orphanet:2328/ntbt"}
xref: MEDGEN:208654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537008 {source="MONDO:equivalentTo", source="Orphanet:2328", source="Orphanet:2328/e"}
xref: OMIM:244300 {source="MONDO:equivalentTo", source="Orphanet:2328", source="Orphanet:2328/e"}
xref: Orphanet:2328 {source="MONDO:equivalentTo", source="OMIM:244300"}
xref: SCTID:722031003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796005 {source="MEDGEN:208654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2328"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2328", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome" xsd:anyURI {source="GARD:0003078"}

[Term]
id: MONDO:0009484
name: primary ciliary dyskinesia 1
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD1" EXACT ABBREVIATION [DOID:0110594, MONDO:Lexical, OMIM:244400]
synonym: "ciliary dyskinesia, primary, 1" RELATED [MONDO:Lexical, OMIM:244400]
synonym: "ciliary dyskinesia, primary, 1, with or without situs inversus" RELATED [OMIM:244400]
synonym: "ciliary dyskinesia, primary, type 1" EXACT [MONDORULE:1, OMIM:244400]
synonym: "dextrocardia, bronchiectasis, and sinusitis" RELATED [OMIM:244400]
synonym: "DNAI1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "immotile cilia syndrome" RELATED [OMIM:244400]
synonym: "Kartagener syndrome" RELATED [OMIM:244400]
synonym: "PCD" RELATED ABBREVIATION [OMIM:244400]
synonym: "Polynesian bronchiectasis" RELATED [OMIM:244400]
synonym: "primary ciliary dyskinesia 1" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 1 with or without situs inversus" EXACT [DOID:0110594]
synonym: "primary ciliary dyskinesia caused by mutation in DNAI1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 1" EXACT [DOID:0110594, MONDORULE:1]
synonym: "Siewert syndrome" RELATED [OMIM:244400]
xref: DOID:0110594 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q34.8 {source="DOID:0110594"}
xref: MEDGEN:1646059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128117 {source="MONDO:equivalentTo"}
xref: OMIM:244400 {source="MONDO:equivalentTo", source="DOID:0110594"}
xref: Orphanet:98861 {source="MONDO:equivalentObsolete", source="OMIM:244400"}
xref: UMLS:C4551906 {source="MONDO:equivalentTo", source="MEDGEN:1646059", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:244400", source="DOID:0110594", source="MONDO:Redundant", source="OMIM:244400"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2954 ! DNAI1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2954 {source="MONDO:mim2gene_medgen"} ! DNAI1

[Term]
id: MONDO:0009485
name: oculocerebrofacial syndrome, Kaufman type
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3084", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2707"}
subset: ordo_malformation_syndrome {source="Orphanet:2707"}
subset: orphanet_rare {source="Orphanet:2707"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis-ptosis-intellectual disability syndrome" EXACT [OMIM:244450]
synonym: "BPIDS" EXACT ABBREVIATION [OMIM:244450]
synonym: "Kaufman oculocerebrofacial syndrome" RELATED [MONDO:Lexical, OMIM:244450]
synonym: "KOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244450]
synonym: "kos" RELATED [OMIM:244450]
synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT CLINGEN_LABEL []
synonym: "severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED [GARD:0003084]
synonym: "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED DEPRECATED [GARD:0003084]
xref: DOID:0111456 {source="MONDO:equivalentTo"}
xref: GARD:3084 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2707/attributed", source="Orphanet:2707/ntbt", source="Orphanet:2707"}
xref: MEDGEN:343403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537013 {source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"}
xref: OMIM:244450 {source="Orphanet:2707/e", source="MONDO:equivalentTo", source="Orphanet:2707"}
xref: Orphanet:2707 {source="OMIM:244450", source="MONDO:equivalentTo"}
xref: SCTID:722056009 {source="MONDO:equivalentTo"}
xref: UMLS:C1855663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343403"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2707"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2707", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13478 {source="MONDO:mim2gene_medgen"} ! UBE3B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0009486
name: autosomal recessive Kenny-Caffey syndrome
def: "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." [NCIT:C130992]
subset: gard_rare {source="GARD:8367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93324"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93324"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kcs" RELATED [OMIM:244460]
synonym: "KCS1" RELATED ABBREVIATION [GARD:0008367, MONDO:Lexical, OMIM:244460]
synonym: "Kenny-Caffey syndrome type 1" EXACT [NCIT:C130992]
synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT [GARD:0008367, MONDO:patterns/autosomal_recessive, OMIM:244460]
synonym: "Kenny-Caffey syndrome, type 1" RELATED [MONDO:Lexical, OMIM:244460]
xref: DOID:0080722 {source="MONDO:equivalentTo"}
xref: GARD:8367 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:93324", source="Orphanet:93324/attributed", source="Orphanet:93324/ntbt"}
xref: MEDGEN:340923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537021 {source="MONDO:equivalentTo"}
xref: NCIT:C130992 {source="MONDO:equivalentTo"}
xref: OMIM:244460 {source="MONDO:equivalentTo", source="Orphanet:93324", source="GARD:0008367", source="Orphanet:93324/e"}
xref: Orphanet:2333 {source="OMIM:244460"}
xref: Orphanet:93324 {source="OMIM:244460", source="MONDO:equivalentTo", source="GARD:0008367"}
xref: UMLS:C1855648 {source="MEDGEN:340923", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130992"} ! syndromic disease
is_a: MONDO:0016516 {source="DC-OMIM:244460", source="MONDO:Redundant", source="OMIM:244460", source="Orphanet:93324"} ! Kenny-Caffey syndrome
intersection_of: MONDO:0016516 ! Kenny-Caffey syndrome
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11582 {source="MONDO:mim2gene_medgen"} ! TBCE
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1" xsd:anyURI {source="GARD:0008367"}

[Term]
id: MONDO:0009487
name: keratoconus and congenital hip dysplasia
synonym: "keratoconus and congenital hip dysplasia" EXACT [OMIM:244510]
xref: MEDGEN:383732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565456 {source="MONDO:equivalentTo"}
xref: OMIM:244510 {source="MONDO:equivalentTo"}
xref: UMLS:C1855647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383732"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009488
name: keratoconus posticus circumscriptus
synonym: "keratoconus posticus CIRCUMSCRIPTUS" RELATED [OMIM:244600]
synonym: "keratoconus posticus circumscriptus" EXACT [MONDO:Lexical, OMIM:244600]
synonym: "KPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244600]
synonym: "Kpc with associated malformations" RELATED [OMIM:244600]
xref: MEDGEN:340922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536151 {source="MONDO:equivalentTo"}
xref: OMIM:244600 {source="MONDO:equivalentTo"}
xref: UMLS:C1855645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340922"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus" xsd:anyURI {source="GARD:0003091"}

[Term]
id: MONDO:0009489
name: hereditary palmoplantar keratoderma, Gamborg-Nielsen type
def: "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive." [Orphanet:86923]
subset: gard_rare {source="GARD:16767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86923"}
subset: orphanet_rare {source="Orphanet:86923"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type" EXACT [Orphanet:86923]
synonym: "palmoplantar keratoderma, Norrbotten recessive type" RELATED [MONDO:Lexical, OMIM:244850]
synonym: "PPK, Gamborg-Nielsen type" EXACT [Orphanet:86923]
synonym: "PPKNR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244850]
xref: GARD:16767 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:86923", source="Orphanet:86923/attributed", source="Orphanet:86923/ntbt"}
xref: MEDGEN:344543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565454 {source="MONDO:equivalentTo"}
xref: OMIM:244850 {source="MONDO:equivalentTo", source="Orphanet:86923", source="Orphanet:86923/e"}
xref: Orphanet:86923 {source="MONDO:equivalentTo", source="OMIM:244850"}
xref: SCTID:717228004 {source="MONDO:equivalentTo"}
xref: UMLS:C1855644 {source="MONDO:equivalentTo", source="MEDGEN:344543", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009490
name: Papillon-Lefevre disease
def: "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." [Orphanet:678]
subset: gard_rare {source="GARD:3100", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1552"}
subset: ordo_disorder {source="Orphanet:678"}
subset: orphanet_rare {source="Orphanet:678"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperkeratosis palmoplantaris with periodontosis" RELATED [GARD:0003100]
synonym: "Keratoris palmoplantaris with periodontopathia" RELATED [GARD:0003100]
synonym: "keratosis palmoplantar - periodontopathy" RELATED [GARD:0003100]
synonym: "keratosis palmoplantar-periodontopathy syndrome" EXACT [Orphanet:678]
synonym: "keratosis palmoplantaris with periodontopathia" RELATED [OMIM:245000]
synonym: "palmar-plantar hyperkeratosis and concomitant periodontal destruction" RELATED [GARD:0003100]
synonym: "palmoplantar keratoderma with periodontosis" RELATED [GARD:0003100]
synonym: "PALS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245000]
synonym: "Papillon Lefevre syndrome" EXACT [DOID:3389]
synonym: "Papillon Lefèvre Syndrome" EXACT [NORD:1552]
synonym: "PAPILLON-Lefevre syndrome" RELATED [MONDO:Lexical, OMIM:245000]
synonym: "Papillon-Lefvre syndrome" EXACT [DOID:3389]
synonym: "Papillon-LEFèvre syndrome" RELATED [Orphanet:678]
synonym: "PLS" EXACT ABBREVIATION [Orphanet:678]
synonym: "Pls" RELATED [OMIM:245000]
xref: DOID:3389 {source="MONDO:equivalentTo"}
xref: GARD:3100 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:678", source="Orphanet:678/attributed", source="Orphanet:678/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010214 {source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo", source="Orphanet:678/e"}
xref: NCIT:C84992 {source="DOID:3389", source="MONDO:equivalentTo"}
xref: NORD:1552 {source="MONDO:NORD"}
xref: OMIM:245000 {source="Orphanet:678", source="DOID:3389", source="MONDO:equivalentTo", source="Orphanet:678/e"}
xref: Orphanet:678 {source="OMIM:245000", source="MONDO:equivalentTo"}
xref: SCTID:40158001 {source="DOID:3389", source="MONDO:equivalentTo"}
xref: UMLS:C0030360 {source="MEDGEN:45306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84992"} ! syndromic disease
is_a: MONDO:0002635 {source="DOID:3389"} ! periodontal disorder
is_a: MONDO:0015978 {source="Orphanet:678"} ! functional neutrophil defect
is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0017739 {source="Orphanet:678"} ! disorder of lysosomal-related organelles
is_a: MONDO:0019287 {source="Orphanet:678"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:245000", source="Orphanet:678"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="MONDO:mim2gene_medgen"} ! CTSC

[Term]
id: MONDO:0009491
name: Haim-Munk syndrome
def: "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." [Orphanet:2342]
subset: gard_rare {source="GARD:44", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1212"}
subset: ordo_disorder {source="Orphanet:2342"}
subset: orphanet_rare {source="Orphanet:2342"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cochin Jewish disorder" RELATED [OMIM:245010]
synonym: "HAIM-Munk syndrome" RELATED [OMIM:245010]
synonym: "Haim-Munk syndrome" EXACT [MONDO:Lexical, OMIM:245010]
synonym: "HMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245010]
synonym: "keratosis palmoplantaris with periodontopathia and onychogryposis" RELATED [OMIM:245010]
synonym: "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342]
synonym: "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342]
synonym: "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342]
xref: GARD:44 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2342", source="Orphanet:2342/attributed", source="Orphanet:2342/ntbt"}
xref: MEDGEN:344539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537627 {source="Orphanet:2342", source="MONDO:equivalentTo", source="Orphanet:2342/e"}
xref: NORD:1212 {source="MONDO:NORD"}
xref: OMIM:245010 {source="Orphanet:2342", source="MONDO:equivalentTo", source="Orphanet:2342/e"}
xref: Orphanet:2342 {source="OMIM:245010", source="MONDO:equivalentTo"}
xref: SCTID:719973009 {source="MONDO:equivalentTo"}
xref: UMLS:C1855627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344539"}
is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0017739 {source="Orphanet:2342"} ! disorder of lysosomal-related organelles
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2342", source="Orphanet:2342/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:245010", source="Orphanet:2342"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="MONDO:mim2gene_medgen"} ! CTSC
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome" xsd:anyURI {source="GARD:0000044"}

[Term]
id: MONDO:0009492
name: succinyl-CoA:3-ketoacid CoA transferase deficiency
def: "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." [Orphanet:832]
subset: gard_rare {source="GARD:4774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:832"}
subset: orphanet_rare {source="Orphanet:832"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-oxoacid CoA transferase deficiency" RELATED [GARD:0004774]
synonym: "ketoacidosis due to Scot deficiency" RELATED [OMIM:245050]
synonym: "OXCT1 deficiency" EXACT [Orphanet:832]
synonym: "SCOT deficiency" EXACT [Orphanet:832]
synonym: "Scot deficiency" RELATED [OMIM:245050]
synonym: "SCOTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245050]
synonym: "Succinyl CoA:3-oxoacid CoA transferase deficiency" EXACT [OMIM:245050, OMIM:genemap2]
synonym: "succinyl-CoA acetoacetate transferase deficiency" EXACT [Orphanet:832]
synonym: "succinyl-CoA:3-ketoacid CoA transferase deficiency" EXACT CLINGEN_LABEL []
synonym: "succinyl-Coa:3-ketoacid Coa-transferase deficiency" RELATED [OMIM:245050]
synonym: "succinyl-CoA:3-oxoacid CoA transferase deficiency" EXACT [Orphanet:832]
synonym: "succinyl-CoA:3-oxoacid-CoA transferase deficiency" RELATED [MONDO:Lexical, OMIM:245050]
synonym: "succinyl-Coa:acetoacetate transferase deficiency" RELATED [OMIM:245050]
xref: GARD:4774 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:832", source="Orphanet:832/attributed", source="Orphanet:832/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537527 {source="MONDO:equivalentTo"}
xref: NANDO:2200499 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:245050 {source="Orphanet:832", source="MONDO:equivalentTo", source="Orphanet:832/e"}
xref: Orphanet:832 {source="MONDO:equivalentTo", source="OMIM:245050"}
xref: SCTID:238004006 {source="MONDO:equivalentTo"}
xref: UMLS:C0342792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137979"}
is_a: MONDO:0019229 {source="Orphanet:832"} ! inborn disorder of ketolysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8527 {source="MONDO:mim2gene_medgen"} ! OXCT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009493
name: Richards-Rundle syndrome
def: "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." [Orphanet:1399]
subset: gard_rare {source="GARD:8423", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1399"}
subset: ordo_malformation_syndrome {source="Orphanet:1399"}
subset: orphanet_rare {source="Orphanet:1399"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia-deafness-intellectual disability syndrome" RELATED [OMIM:245100]
synonym: "ataxia-deafness-mental retardation syndrome" RELATED DEPRECATED [OMIM:245100]
synonym: "ataxia-deafness-retardation syndrome with ketoaciduria" RELATED [GARD:0008423]
synonym: "familial ataxia-hypogonadism syndrome" RELATED [GARD:0008423]
synonym: "ketoaciduria - intellectual disability - ataxia - deafness" RELATED [GARD:0008423]
synonym: "ketoaciduria-intellectual disability-ataxia-deafness syndrome" EXACT [Orphanet:1399]
synonym: "ketoaciduria-mental deficiency syndrome" RELATED [GARD:0008423]
synonym: "RICHARDS-RUNDLE syndrome" RELATED [OMIM:245100]
synonym: "Richards-Rundle syndrome" EXACT [MONDO:Lexical, OMIM:245100]
synonym: "RRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245100]
xref: GARD:8423 {source="MONDO:GARD"}
xref: ICD10CM:G60.2 {source="Orphanet:1399/attributed", source="Orphanet:1399/ntbt", source="Orphanet:1399"}
xref: MEDGEN:163219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535674 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"}
xref: OMIM:245100 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"}
xref: Orphanet:1399 {source="OMIM:245100", source="MONDO:equivalentTo"}
xref: SCTID:715415005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796136 {source="MEDGEN:163219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100309 {source="Orphanet:1399"} ! hereditary ataxia

[Term]
id: MONDO:0009494
name: obsolete Ketoadipicaciduria
comment: Merged in OMIM.
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3796" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008774

[Term]
id: MONDO:0009495
name: Keutel syndrome
def: "Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." [Orphanet:85202]
subset: gard_rare {source="GARD:8449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85202"}
subset: ordo_malformation_syndrome {source="Orphanet:85202"}
subset: orphanet_rare {source="Orphanet:85202"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KEUTEL syndrome" RELATED [OMIM:245150]
synonym: "Keutel syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:245150]
synonym: "KTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245150]
synonym: "pulmonic stenosis brachytelephalangism and calcification of cartilages" RELATED [GARD:0008449]
synonym: "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" RELATED [OMIM:245150]
synonym: "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" EXACT [Orphanet:85202]
xref: GARD:8449 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85202", source="Orphanet:85202/attributed", source="Orphanet:85202/ntbt"}
xref: MEDGEN:383722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536167 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"}
xref: OMIM:245150 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"}
xref: Orphanet:85202 {source="OMIM:245150", source="MONDO:equivalentTo"}
xref: SCTID:724208006 {source="MONDO:equivalentTo"}
xref: UMLS:C1855607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383722"}
is_a: MONDO:0015159 {source="Orphanet:85202"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019701 {source="Orphanet:85202", source="PMID:31633310"} ! chondrodysplasia punctata
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85202", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7060 {source="MONDO:mim2gene_medgen"} ! MGP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome" xsd:anyURI {source="GARD:0008449"}

[Term]
id: MONDO:0009496
name: Kniest-like dysplasia with pursed lips and ectopia lentis
synonym: "burton syndrome" RELATED [OMIM:245160]
synonym: "Kniest-like dysplasia with pursed lips and ectopia lentis" EXACT [OMIM:245160]
xref: MEDGEN:343394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:245160 {source="MONDO:equivalentTo"}
xref: UMLS:C1855606 {source="MEDGEN:343394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009497
name: Kifafa seizure disorder
synonym: "Complex familial seizure disorder" RELATED [GARD:0008420]
synonym: "Kifafa seizure disorder" EXACT [OMIM:245180]
synonym: "parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes" RELATED [GARD:0008420]
synonym: "parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes" RELATED DEPRECATED [GARD:0008420]
synonym: "Vitsala" RELATED [GARD:0008420]
xref: MEDGEN:208655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537708 {source="MONDO:equivalentTo"}
xref: OMIM:245180 {source="MONDO:equivalentTo"}
xref: UMLS:C0796010 {source="MEDGEN:208655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder" xsd:anyURI {source="GARD:0008420"}

[Term]
id: MONDO:0009498
name: lethal Kniest-like dysplasia
def: "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." [Orphanet:2347]
subset: gard_rare {source="GARD:3124", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2347"}
subset: ordo_malformation_syndrome {source="Orphanet:2347"}
subset: orphanet_rare {source="Orphanet:2347"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrosis, flat face, hypotonia, short neck and macrocephaly" RELATED [GARD:0003124]
synonym: "Kniest like dysplasia lethal" RELATED [GARD:0003124]
synonym: "Kniest-like dysplasia, lethal" RELATED [OMIM:245190]
xref: GARD:3124 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:2347", source="Orphanet:2347/attributed", source="Orphanet:2347/ntbt"}
xref: MEDGEN:383721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537208 {source="MONDO:equivalentTo", source="Orphanet:2347", source="Orphanet:2347/e"}
xref: OMIM:245190 {source="MONDO:equivalentTo", source="Orphanet:2347", source="Orphanet:2347/e"}
xref: Orphanet:2347 {source="MONDO:equivalentTo", source="OMIM:245190"}
xref: UMLS:C1855605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383721"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal" xsd:anyURI {source="GARD:0003124"}

[Term]
id: MONDO:0009499
name: Krabbe disease
def: "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." [Orphanet:487]
comment: Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1368"}
subset: ordo_disorder {source="Orphanet:487"}
subset: orphanet_rare {source="Orphanet:487"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "beta galactocerebrosidase deficiency" EXACT [DOID:10587]
synonym: "diffuse globoid body sclerosis" EXACT [DOID:10587]
synonym: "galactocerebrosidase deficiency" EXACT [Orphanet:487]
synonym: "galactosylceramidase deficiency" EXACT [Orphanet:487]
synonym: "galactosylceramide Beta-galactosidase deficiency" RELATED [OMIM:245200]
synonym: "galactosylceramide lipidosis" EXACT [NCIT:C61254]
synonym: "GALC deficiency" EXACT [Orphanet:487]
synonym: "GLD" RELATED ABBREVIATION [GARD:0006844]
synonym: "globoid cell leukodystrophy" EXACT [DOID:10587, OMIM:245200, Orphanet:487, PMID:14572137]
synonym: "globoid cell leukoencephalopathy" EXACT [DOID:10587, OMIM:245200]
synonym: "Krabbe disease" EXACT CLINGEN_LABEL [OMIM:245200]
synonym: "Krabbe leukodystrophy" RELATED [GARD:0006844]
synonym: "Krabbe's disease" EXACT [DOID:10587]
synonym: "Krabbe's leukodystrophy" EXACT [DOID:10587]
synonym: "later onset Krabbe disease" NARROW [https://orcid.org/0000-0002-0587-4693, PMID:20301416]
synonym: "later-onset Krabbe disease" NARROW [https://orcid.org/0000-0002-0587-4693, PMID:20301416]
synonym: "Leukodystrophy, Krabbe's" EXACT [NORD:1368]
xref: DOID:10587 {source="MONDO:equivalentTo"}
xref: GARD:6844 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:487/ntbt", source="Orphanet:487/inclusion", source="Orphanet:487"}
xref: ICD10CM:E75.23 {source="DOID:10587", source="MONDO:equivalentTo"}
xref: icd11.foundation:796317173 {source="MONDO:equivalentTo", source="Orphanet:487"}
xref: MedDRA:10023492 {source="Orphanet:487/e", source="Orphanet:487"}
xref: MEDGEN:44131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007965 {source="DOID:10587", source="MONDO:equivalentTo"}
xref: NANDO:1200074 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200564 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61254 {source="DOID:10587", source="MONDO:equivalentTo"}
xref: NORD:1368 {source="MONDO:NORD"}
xref: OMIM:245200 {source="DOID:10587", source="Orphanet:487/e", source="MONDO:equivalentTo", source="Orphanet:487"}
xref: Orphanet:487 {source="MONDO:equivalentTo", source="OMIM:245200"}
xref: SCTID:189979005 {source="DOID:10587", source="MONDO:equivalentTo"}
xref: SCTID:192782005 {source="DOID:10587"}
xref: SCTID:5710006 {source="DOID:10587"}
xref: UMLS:C0023521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44131"}
is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disorder
is_a: MONDO:0019046 {source="NCIT:C61254", source="Orphanet:487", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0019255 {source="DOID:10587", source="MESH:D007965", source="MONDO:0018299-obsoleted", source="NCIT:C61254", source="Orphanet:487", source="PMID:21502308"} ! sphingolipidosis
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: disease_has_basis_in_accumulation_of CHEBI:16874 {source="PMID:14572137"} ! psychosine
relationship: disease_has_basis_in_disruption_of GO:0004336 {source="PMID:14572137", source="https://www.researchgate.net/figure/Pathogenic-cascade-of-Krabbe-disease-Adapted-from-Suzuki-2003-NOTE-Appearance-of_fig1_251856987"} ! galactosylceramidase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4115 {source="MONDO:mim2gene_medgen"} ! GALC

[Term]
id: MONDO:0009500
name: kuru, susceptibility to
subset: predisposition
synonym: "kuru, susceptibility to" EXACT [OMIM:245300]
synonym: "susceptibility to kuru" RELATED [OMIM:245300]
xref: MEDGEN:343389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:245300 {source="MONDO:equivalentTo"}
xref: UMLS:C1855588 {source="MEDGEN:343389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 ! PRNP
intersection_of: predisposes_towards MONDO:0006825 ! kuru
relationship: excluded_subClassOf MONDO:0006825 {source="Orphanet:454745/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! kuru
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP

[Term]
id: MONDO:0009501
name: metabolic myopathy due to lactate transporter defect
def: "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." [Orphanet:171690]
subset: gard_rare {source="GARD:17067", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171690"}
subset: orphanet_rare {source="Orphanet:171690"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythrocyte lactate transporter defect" EXACT [OMIM:245340, Orphanet:171690]
synonym: "lactate transporter defect, myopathy due to" RELATED [OMIM:245340]
xref: GARD:17067 {source="MONDO:GARD"}
xref: ICD10CM:G72.8 {source="Orphanet:171690/attributed", source="Orphanet:171690/ntbt", source="Orphanet:171690"}
xref: MEDGEN:344529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565449 {source="MONDO:equivalentTo"}
xref: OMIM:245340 {source="Orphanet:171690", source="MONDO:equivalentTo", source="Orphanet:171690/e"}
xref: Orphanet:171690 {source="OMIM:245340", source="MONDO:equivalentTo"}
xref: SCTID:766715000 {source="MONDO:equivalentTo"}
xref: UMLS:C1855577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344529"}
is_a: MONDO:0020123 {source="Orphanet:171690"} ! metabolic myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10922 {source="MONDO:mim2gene_medgen"} ! SLC16A1

[Term]
id: MONDO:0009502
name: pyruvate dehydrogenase E2 deficiency
def: "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." [Orphanet:79244]
subset: gard_rare {source="GARD:16712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79244"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244]
synonym: "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244]
synonym: "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex" RELATED [OMIM:245348]
synonym: "PDHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245348]
synonym: "pyruvate dehydrogenase complex component E2 deficiency" EXACT [Orphanet:79244]
synonym: "pyruvate dehydrogenase E2 deficiency" EXACT [MONDO:Lexical, OMIM:245348]
xref: GARD:16712 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:79244/attributed", source="Orphanet:79244/ntbt", source="Orphanet:79244"}
xref: MEDGEN:343386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565448 {source="MONDO:equivalentTo"}
xref: OMIM:245348 {source="Orphanet:79244/e", source="MONDO:equivalentTo", source="Orphanet:79244"}
xref: Orphanet:765 {source="OMIM:245348"}
xref: Orphanet:79244 {source="MONDO:equivalentTo", source="OMIM:245348"}
xref: UMLS:C1855565 {source="MEDGEN:343386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019169 {source="DC-OMIM:245348", source="OMIM:245348", source="Orphanet:79244"} ! pyruvate dehydrogenase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2896 {source="MONDO:mim2gene_medgen"} ! DLAT

[Term]
id: MONDO:0009503
name: pyruvate dehydrogenase E3-binding protein deficiency
def: "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction." [Orphanet:255182]
subset: gard_rare {source="GARD:17237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:255182"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2-oxoglutarate complex deficiency" EXACT [Orphanet:255182]
synonym: "branched chain alpha-ketoacid dehydrogenase complex deficiency" EXACT [Orphanet:255182]
synonym: "diaphorase deficiency" EXACT [Orphanet:255182]
synonym: "dihydrolipoyl dehydrogenase deficiency" EXACT [Orphanet:255182]
synonym: "Glycine cleavage system L protein deficiency" EXACT [Orphanet:255182]
synonym: "lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex" RELATED [OMIM:245349]
synonym: "lacticacidemia due to PDX1 deficiency" EXACT [OMIM:245349, OMIM:genemap2]
synonym: "lipoamide dehydrogenase deficiency" EXACT [Orphanet:255182]
synonym: "PDHXD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245349]
synonym: "pyruvate dehydrogenase complex component E3 deficiency" EXACT [Orphanet:255182]
synonym: "pyruvate dehydrogenase E3-binding PROTEIN deficiency" RELATED [OMIM:245349]
synonym: "pyruvate dehydrogenase E3-binding protein deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:245349]
synonym: "pyruvate dehydrogenase protein X component deficiency" EXACT [Orphanet:255182]
xref: GARD:17237 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:255182", source="Orphanet:255182/attributed", source="Orphanet:255182/ntbt"}
xref: MEDGEN:343383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565447 {source="MONDO:equivalentTo"}
xref: OMIM:245349 {source="Orphanet:255182/e", source="MONDO:equivalentTo", source="Orphanet:255182"}
xref: Orphanet:255182 {source="MONDO:equivalentTo", source="OMIM:245349"}
xref: Orphanet:765 {source="OMIM:245349"}
xref: UMLS:C1855553 {source="MEDGEN:343383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019169 {source="DC-OMIM:245349", source="OMIM:245349", source="Orphanet:255182"} ! pyruvate dehydrogenase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21350 {source="MONDO:mim2gene_medgen"} ! PDHX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009504
name: mitochondrial DNA depletion syndrome 9
def: "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." [Orphanet:17]
subset: gard_rare {source="GARD:3163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:17"}
subset: orphanet_rare {source="Orphanet:17"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fatal infantile lactic acidosis with methylmalonic aciduria" RELATED [Orphanet:17]
synonym: "lactic acidosis congenital infantile" RELATED [GARD:0003163]
synonym: "lactic acidosis, fatal infantile" RELATED [OMIM:245400]
synonym: "lactic acidosis, fatal infantile, formerly" RELATED [OMIM:245400]
synonym: "mitochondrial DNA depletion syndrome 9" EXACT CLINGEN_LABEL []
synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:245400]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 9" EXACT [DOID:0080128, MONDORULE:1]
synonym: "MTDPS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245400]
synonym: "succinate-CoA ligase deficiency" BROAD [https://orcid.org/0000-0001-6330-7526, PMID:26475597, PMID:31240156]
synonym: "SUCLG1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080128 {source="MONDO:equivalentTo"}
xref: GARD:3163 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:17", source="Orphanet:17/attributed", source="Orphanet:17/ntbt"}
xref: MEDGEN:462826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538134 {source="MONDO:equivalentTo"}
xref: MESH:C566885 {source="MONDO:equivalentTo"}
xref: OMIM:245400 {source="MONDO:equivalentTo", source="Orphanet:17", source="DOID:0080128", source="GARD:0003163", source="Orphanet:17/e"}
xref: Orphanet:17 {source="MONDO:equivalentTo", source="OMIM:245400"}
xref: SCTID:715338007 {source="MONDO:equivalentTo"}
xref: UMLS:C3151476 {source="MEDGEN:462826", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006040 {source="MESH:C538134", source="MESH:C566885", source="OMIM:245400"} ! lactic acidosis
is_a: MONDO:0016796 {source="Orphanet:17"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form
is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:245400", source="Orphanet:17", source="Orphanet:17/inferred"} ! mitochondrial DNA depletion syndrome
intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11449 ! SUCLG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11449 {source="MONDO:mim2gene_medgen"} ! SUCLG1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile" xsd:anyURI {source="GARD:0003163"}

[Term]
id: MONDO:0009505
name: lactic aciduria due to D-lactic acid
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "D-lactic aciduria with susceptibility to gout" EXACT [OMIM:245450, OMIM:genemap2]
synonym: "lactic aciduria due to D-lactic acid" EXACT [OMIM:245450]
xref: MEDGEN:1679270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565446 {source="MONDO:equivalentTo"}
xref: OMIM:245450 {source="MONDO:equivalentTo"}
xref: UMLS:C5193006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679270"}
is_a: MONDO:0003847 {source="MESH:C565446/inferred"} ! hereditary disease
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009506
name: specific granule deficiency
subset: gard_rare {source="GARD:10778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169142"}
subset: orphanet_rare {source="Orphanet:169142"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480]
synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480]
synonym: "neutrophil-specific granule deficiency" EXACT [Orphanet:169142]
synonym: "recurrent infection due to specific granule deficiency" EXACT [Orphanet:169142]
synonym: "SGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245480]
synonym: "specific granule deficiency" EXACT [MONDO:Lexical, OMIM:245480]
xref: GARD:10778 {source="MONDO:GARD"}
xref: ICD10CM:D71 {source="Orphanet:169142/attributed", source="Orphanet:169142/ntbt", source="Orphanet:169142"}
xref: MEDGEN:140766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562873 {source="MONDO:equivalentTo"}
xref: OMIMPS:245480 {source="MONDO:equivalentTo"}
xref: Orphanet:169142 {source="OMIM:245480", source="MONDO:equivalentTo"}
xref: SCTID:234587000 {source="MONDO:equivalentTo"}
xref: UMLS:C0398593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140766"}
is_a: MONDO:0015978 {source="Orphanet:169142"} ! functional neutrophil defect
is_a: MONDO:0024626 ! defective phagocytic cell engulfment
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:245480"} ! inherited

[Term]
id: MONDO:0009507
name: Lambert syndrome
def: "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." [Orphanet:1296]
subset: gard_rare {source="GARD:3169", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1296"}
subset: ordo_malformation_syndrome {source="Orphanet:1296"}
subset: orphanet_rare {source="Orphanet:1296"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "branchial dysplasia clubfoot inguinal hernia and biliary atresia" RELATED [GARD:0003169]
synonym: "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" RELATED [OMIM:245550]
synonym: "branchial dysplasia-intellectual disability-inguinal hernia syndrome" EXACT [Orphanet:1296]
synonym: "Lambert syndrome" EXACT [OMIM:245550]
xref: GARD:3169 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1296", source="Orphanet:1296/attributed", source="Orphanet:1296/ntbt"}
xref: MEDGEN:343381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538396 {source="Orphanet:1296", source="MONDO:equivalentTo", source="Orphanet:1296/e"}
xref: OMIM:245550 {source="Orphanet:1296", source="MONDO:equivalentTo", source="Orphanet:1296/e"}
xref: Orphanet:1296 {source="OMIM:245550", source="MONDO:equivalentTo"}
xref: SCTID:732961003 {source="MONDO:equivalentTo"}
xref: UMLS:C1855551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343381"}
is_a: MONDO:0015159 {source="Orphanet:1296"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome" xsd:anyURI {source="GARD:0003169"}

[Term]
id: MONDO:0009508
name: Lambotte syndrome
synonym: "Lambotte syndrome" EXACT [OMIM:245552]
synonym: "microcephaly, holoprosencephaly, and intrauterine Growth retardation" RELATED [OMIM:245552]
xref: MEDGEN:343380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537549 {source="MONDO:equivalentTo"}
xref: OMIM:245552 {source="MONDO:equivalentTo"}
xref: UMLS:C1855550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343380"}
is_a: MONDO:0003847 {source="MESH:C537549/inferred"} ! hereditary disease

[Term]
id: MONDO:0009509
name: Landau-Kleffner syndrome
def: "Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS." [https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome]
subset: gard_rare {source="GARD:6855", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98818"}
subset: orphanet_rare {source="Orphanet:98818"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired aphasia with convulsive disorder" RELATED [GARD:0006855]
synonym: "acquired epileptic aphasia" EXACT [DOID:2538, Orphanet:98818]
synonym: "acquired epileptiform aphasia" RELATED [GARD:0006855]
synonym: "aphasia, acquired, with epilepsy" RELATED [OMIM:245570]
synonym: "benign epilepsy of childhood with centrotemporal spikes" RELATED [OMIM:245570]
synonym: "continuous Spike and waves during slow-Wave sleep syndrome" RELATED [OMIM:245570]
synonym: "epilepsy, focal, with speech disorder and with or without impaired intellectual development" EXACT [OMIM:245570, OMIM:genemap2]
synonym: "epilepsy, focal, with speech disorder and with or without intellectual disability" RELATED [MONDO:Lexical, OMIM:245570]
synonym: "epilepsy, focal, with speech disorder and with or without mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:245570]
synonym: "FESD" RELATED DEPRECATED [MONDO:Lexical, OMIM:245570]
synonym: "Landau-Kleffner syndrome" EXACT [OMIM:245570]
synonym: "LKS" EXACT ABBREVIATION [Orphanet:98818]
synonym: "Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant" RELATED [OMIM:245570]
synonym: "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" RELATED DEPRECATED [OMIM:245570]
xref: DOID:2538 {source="EFO:1001010", source="MONDO:equivalentTo"}
xref: EFO:1001010 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6855 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="DOID:2538"}
xref: icd11.foundation:348544271 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98818"}
xref: MedDRA:10052075 {source="Orphanet:98818/e", source="Orphanet:98818"}
xref: MedDRA:10052083 {source="EFO:1001010"}
xref: MEDGEN:79465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018887 {source="EFO:1001010", source="Orphanet:98818/e", source="MONDO:equivalentTo", source="DOID:2538", source="Orphanet:98818"}
xref: NANDO:1200602 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84806 {source="EFO:1001010", source="MONDO:equivalentTo", source="DOID:2538"}
xref: OMIM:245570 {source="MONDO:equivalentTo", source="Orphanet:98818/ntbt", source="DOID:2538", source="Orphanet:98818"}
xref: Orphanet:163721 {source="OMIM:245570"}
xref: Orphanet:1945 {source="OMIM:245570"}
xref: Orphanet:725 {source="OMIM:245570"}
xref: Orphanet:98818 {source="OMIM:245570", source="MONDO:equivalentTo"}
xref: SCTID:192567003 {source="DOID:2538"}
xref: SCTID:230438007 {source="MONDO:equivalentTo", source="DOID:2538"}
xref: UMLS:C0282512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79465"}
is_a: MONDO:0000414 {source="DOID:2538"} ! childhood electroclinical syndrome
is_a: MONDO:0002254 {source="NCIT:C84806"} ! syndromic disease
is_a: MONDO:0020072 {source="Orphanet:98818", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4585 {source="MONDO:mim2gene_medgen"} ! GRIN2A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4585 {source="MONDO:mim2gene_medgen"} ! GRIN2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome" xsd:anyURI {source="GARD:0006855"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/lks-overview.html" xsd:anyURI

[Term]
id: MONDO:0009510
name: obsolete Laron syndrome with immunodeficiency
comment: Split this term and added OMIM phenotypic series as a parent.
is_obsolete: true
replaced_by: MONDO:0100211

[Term]
id: MONDO:0009511
name: Larsen-like syndrome, B3GAT3 type
def: "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." [Orphanet:284139]
subset: gard_rare {source="GARD:17308", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284139"}
subset: ordo_malformation_syndrome {source="Orphanet:284139"}
subset: orphanet_rare {source="Orphanet:284139"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JDSCD" RELATED ABBREVIATION [OMIM:245600]
synonym: "Larsen syndrome, autosomal recessive" RELATED [OMIM:245600]
synonym: "Larsen syndrome, autosomal recessive, formerly" RELATED [OMIM:245600]
synonym: "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" RELATED [OMIM:245600]
synonym: "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects" RELATED [OMIM:245600]
synonym: "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" RELATED [OMIM:245600]
synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" EXACT [OMIM:245600, OMIM:genemap2]
synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [Orphanet:284139]
xref: DOID:0080575 {source="MONDO:equivalentTo"}
xref: GARD:17308 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:284139", source="Orphanet:284139/attributed", source="Orphanet:284139/ntbt"}
xref: MEDGEN:480034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537874 {source="MONDO:equivalentTo"}
xref: OMIM:245600 {source="Orphanet:284139/e", source="MONDO:equivalentTo", source="Orphanet:284139"}
xref: Orphanet:284139 {source="MONDO:equivalentTo", source="OMIM:245600"}
xref: UMLS:C3278404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:480034"}
is_a: MONDO:0005267 {source="MONDO:0018290-obsoleted"} ! heart disorder
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:284139", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0009512
name: lethal Larsen-like syndrome
def: "Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." [Orphanet:2371]
subset: gard_rare {source="GARD:3181", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2371"}
subset: ordo_malformation_syndrome {source="Orphanet:2371"}
subset: orphanet_rare {source="Orphanet:2371"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Larsen-like multiple joint dislocation syndrome" RELATED [GARD:0003181]
synonym: "Larsen-like syndrome, lethal type" RELATED [OMIM:245650]
xref: GARD:3181 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:2371/attributed", source="Orphanet:2371/ntbt", source="Orphanet:2371"}
xref: MEDGEN:343375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537872 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"}
xref: OMIM:245650 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"}
xref: Orphanet:2371 {source="OMIM:245650", source="MONDO:equivalentTo"}
xref: SCTID:719409004 {source="MONDO:equivalentTo"}
xref: UMLS:C1855535 {source="MEDGEN:343375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:2371", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations

[Term]
id: MONDO:0009513
name: laryngo-onycho-cutaneous syndrome
def: "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." [Orphanet:2407]
subset: gard_rare {source="GARD:368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2407"}
subset: orphanet_rare {source="Orphanet:2407"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" EXACT [Orphanet:2407]
synonym: "laryngo-onycho-cutaneous syndrome" EXACT [Orphanet:2407]
synonym: "LARYNGOONYCHOCUTANEOUS syndrome" RELATED [MONDO:Lexical, OMIM:245660]
synonym: "LOC syndrome" EXACT [Orphanet:2407]
synonym: "LOCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245660]
synonym: "logic syndrome" EXACT [OMIM:245660, Orphanet:2407]
synonym: "Shabbir syndrome" EXACT [Orphanet:2407]
xref: GARD:368 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:2407", source="Orphanet:2407/attributed", source="Orphanet:2407/ntbt"}
xref: MEDGEN:272227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537032 {source="MONDO:equivalentTo"}
xref: OMIM:245660 {source="Orphanet:2407/e", source="MONDO:equivalentTo", source="Orphanet:2407"}
xref: Orphanet:2407 {source="OMIM:245660", source="MONDO:equivalentTo"}
xref: SCTID:722675000 {source="MONDO:equivalentTo"}
xref: UMLS:C1328355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272227"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:2407", source="Orphanet:2407/inferred"} ! respiratory system disorder
is_a: MONDO:0017612 {source="Orphanet:2407"} ! junctional epidermolysis bullosa
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2407", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6483 {source="MONDO:mim2gene_medgen"} ! LAMA3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009514
name: Laurence-Moon syndrome
def: "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." [Orphanet:2377]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:12635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1932"}
subset: ordo_disorder {source="Orphanet:2377"}
subset: ordo_malformation_syndrome {source="Orphanet:2377"}
subset: orphanet_rare {source="Orphanet:2377"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Laurence-MOON syndrome" RELATED [OMIM:245800]
synonym: "Laurence-Moon syndrome" EXACT [MONDO:Lexical, OMIM:245800]
synonym: "Laurence-Moon-Biedl syndrome" RELATED [DOID:1930]
synonym: "LMS" EXACT ABBREVIATION [Orphanet:2377]
synonym: "LNMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245800]
xref: DOID:1930 {source="MONDO:equivalentTo"}
xref: GARD:12635 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2377/inclusion", source="Orphanet:2377", source="Orphanet:2377/ntbt"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056710 {source="Orphanet:2377", source="Orphanet:2377/e"}
xref: MEDGEN:44078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007849 {source="Orphanet:2377", source="MONDO:equivalentTo", source="Orphanet:2377/e", source="DOID:1930"}
xref: NCIT:C34760 {source="MONDO:equivalentTo", source="DOID:1930"}
xref: NORD:1932 {source="MONDO:NORD"}
xref: OMIM:245800 {source="Orphanet:2377", source="MONDO:equivalentTo", source="Orphanet:2377/e", source="DOID:1930"}
xref: Orphanet:2377 {source="MONDO:equivalentTo", source="OMIM:245800"}
xref: SCTID:232059000 {source="MONDO:equivalentTo", source="DOID:1930"}
xref: SCTID:232060005 {source="DOID:1930"}
xref: SCTID:5619004 {source="DOID:1930", source="MONDO:directSiblingOf"}
xref: UMLS:C0023138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44078"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34760", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="DOID:1930/inferred", source="MONDO:Redundant", source="NCIT:C34760", source="Orphanet:2377/inferred"} ! hereditary disease
is_a: MONDO:0006025 {source="DOID:1930", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2377"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2377", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:245800", source="Orphanet:2377"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="MONDO:mim2gene_medgen"} ! PNPLA6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome" xsd:anyURI {source="GARD:0012635"}

[Term]
id: MONDO:0009515
name: Norum disease
def: "A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." [https://orcid.org/0000-0001-5208-3432, Orphanet:79293]
subset: gard_rare {source="GARD:4011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79293"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete LCAT deficiency" EXACT [Orphanet:79293]
synonym: "familial LCAT deficiency" RELATED [Orphanet:79293]
synonym: "FLD" EXACT ABBREVIATION [Orphanet:79293]
synonym: "LCAT deficiency" RELATED [OMIM:245900]
synonym: "lecithin acyltransferase deficiency" EXACT [DOID:1391]
synonym: "lecithin:cholesterol acyltransferase deficiency" EXACT [DOID:1391, OMIM:245900]
synonym: "Norum disease" EXACT [OMIM:245900, Orphanet:79293]
xref: DOID:1391 {source="MONDO:equivalentTo"}
xref: GARD:4011 {source="MONDO:GARD"}
xref: ICD10CM:E78.6 {source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/attributed", source="Orphanet:79293/ntbt"}
xref: MEDGEN:9698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007863 {source="DOID:1391"}
xref: NANDO:1200852 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84813 {source="MONDO:equivalentTo", source="DOID:1391"}
xref: OMIM:245900 {source="MONDO:equivalentTo", source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/e"}
xref: Orphanet:650 {source="OMIM:245900"}
xref: Orphanet:79293 {source="MONDO:equivalentTo", source="OMIM:245900"}
xref: SCTID:238091006 {source="MONDO:equivalentTo", source="DOID:1391"}
xref: SCTID:49227001 {source="DOID:1391"}
xref: UMLS:C0023195 {source="MEDGEN:9698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001822 {source="DOID:1391"} ! hypolipoproteinemia
is_a: MONDO:0018999 {source="Orphanet:79293"} ! LCAT deficiency
is_a: MONDO:0019052 {source="DOID:1391/inferred", source="MONDO:Redundant", source="NCIT:C84813", source="Orphanet:79293/inferred"} ! inborn errors of metabolism
relationship: excluded_subClassOf MONDO:0003664 {source="Orphanet:79293", source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015910"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6522 {source="MONDO:mim2gene_medgen"} ! LCAT

[Term]
id: MONDO:0009516
name: absence deformity of leg-cataract syndrome
def: "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." [Orphanet:2310]
subset: gard_rare {source="GARD:16593", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2310"}
subset: ordo_malformation_syndrome {source="Orphanet:2310"}
subset: orphanet_rare {source="Orphanet:2310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leg, absence deformity of, with congenital cataract" RELATED [OMIM:246000]
xref: GARD:16593 {source="MONDO:GARD"}
xref: MEDGEN:343374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565442 {source="MONDO:equivalentTo"}
xref: OMIM:246000 {source="Orphanet:2310", source="MONDO:equivalentTo", source="Orphanet:2310/e"}
xref: Orphanet:2310 {source="OMIM:246000", source="MONDO:equivalentTo"}
xref: UMLS:C1855523 {source="MEDGEN:343374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28557 {source="MONDO:mim2gene_medgen"} ! KLHDC8B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009517
name: Donohue syndrome
def: "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." [Orphanet:508]
subset: gard_rare {source="GARD:6885", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1361", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508"}
subset: ordo_malformation_syndrome {source="Orphanet:508"}
subset: orphanet_rare {source="Orphanet:508"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Donohue syndrome" EXACT [OMIM:246200, Orphanet:508]
synonym: "insulin receptor, defect 1N" RELATED [OMIM:246200]
synonym: "Leprechaunism" EXACT [NORD:1361]
synonym: "leprechaunism" EXACT [DOID:0050470, OMIM:246200]
xref: DOID:0050470 {source="MONDO:equivalentTo"}
xref: GARD:6885 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:508", source="Orphanet:508/index", source="Orphanet:508/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056731 {source="MONDO:equivalentTo", source="DOID:0050470"}
xref: NCIT:C84676 {source="MONDO:equivalentTo", source="DOID:0050470"}
xref: NORD:1361 {source="MONDO:NORD"}
xref: OMIM:246200 {source="MONDO:equivalentTo", source="Orphanet:508", source="DOID:0050470", source="Orphanet:508/e"}
xref: Orphanet:508 {source="OMIM:246200", source="MONDO:equivalentTo"}
xref: SCTID:111307005 {source="MONDO:equivalentTo", source="DOID:0050470"}
xref: SCTID:33559001 {source="DOID:0050470", source="MONDO:directSiblingOf"}
xref: UMLS:C0265344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82708"}
is_a: MONDO:0002254 {source="NCIT:C84676"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0050470", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015161 {source="Orphanet:508"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:508", source="Orphanet:508/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:508", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0019280 {source="Orphanet:508", source="https://orcid.org/0000-0001-5208-3432"} ! hypertrichosis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:246200", source="Orphanet:508"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6091 {source="MONDO:mim2gene_medgen"} ! INSR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0009518
name: leprosy, susceptibility to, 3
def: "Any leprosy in which the cause of the disease is a mutation in the TLR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "leprosy caused by mutation in TLR2" EXACT [MONDO:design_pattern]
synonym: "leprosy, susceptibility to" EXACT [OMIM:246300, OMIM:genemap2]
synonym: "leprosy, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:246300]
synonym: "leprosy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:246300]
synonym: "LPRS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246300]
synonym: "susceptibility to leprosy 3" RELATED [OMIM:246300]
synonym: "TLR2 leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:368500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:246300 {source="MONDO:equivalentTo"}
xref: Orphanet:548 {source="OMIM:246300"}
xref: UMLS:C1968668 {source="MEDGEN:368500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11848 ! TLR2
intersection_of: predisposes_towards MONDO:0005124 ! leprosy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11848 {source="MONDO:mim2gene_medgen"} ! TLR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009519
name: letterer-Siwe disease
def: "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia." [NCIT:C3160]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acute and disseminated Langerhans cell histiocytosis" EXACT [Orphanet:99870]
synonym: "acute disseminated Langerhans cell histiocytosis" EXACT [NCIT:C3160]
synonym: "histiocytosis X, acute disseminated" RELATED [OMIM:246400]
synonym: "L-S disease" RELATED [OMIM:246400]
synonym: "letterer-Siwe disease" EXACT [NCIT:C3160, OMIM:246400]
synonym: "multifocal multisystem Langerhans cell histiocytosis" EXACT [NCIT:C3160]
xref: ICD10CM:C96.0 {source="Orphanet:99870/e", source="Orphanet:99870"}
xref: ICDO:9754/3 {source="NCIT:C3160"}
xref: MedDRA:10024265 {source="Orphanet:99870/e", source="Orphanet:99870"}
xref: MEDGEN:7311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538636 {source="Orphanet:99870/e", source="Orphanet:99870"}
xref: NCIT:C3160 {source="MONDO:equivalentTo"}
xref: OMIM:246400 {source="Orphanet:99870/e", source="MONDO:equivalentTo", source="Orphanet:99870"}
xref: Orphanet:99870 {source="MONDO:equivalentObsolete", source="OMIM:246400"}
xref: UMLS:C0023381 {source="MEDGEN:7311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017025 {source="Orphanet:99870"} ! Langerhans cell histiocytosis specific to childhood
is_a: MONDO:0018310 {source="MONDO:0009519/inferred", source="MONDO:Redundant", source="NCIT:C3160", source="NCIT:C3160/inferred", source="Orphanet:99870"} ! Langerhans cell histiocytosis

[Term]
id: MONDO:0009520
name: 3-hydroxy-3-methylglutaric aciduria
def: "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." [Orphanet:20]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8387", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:20"}
subset: orphanet_rare {source="Orphanet:20"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-hydroxy-3-methylglutaric aciduria" EXACT CLINGEN_LABEL []
synonym: "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" EXACT [MONDO:Lexical, OMIM:246450, Orphanet:20]
synonym: "3-OH 3-Methyl glutaric aciduria" EXACT [NCIT:C84523]
synonym: "defect in leucine metabolism" RELATED [GARD:0008387]
synonym: "deficiency of hydroxymethylglutaryl-CoA lyase" EXACT [NCIT:C84523]
synonym: "HL deficiency" RELATED [OMIM:246450]
synonym: "HMG CoA lyase deficiency" RELATED [GARD:0008387]
synonym: "HMG-CoA lyase deficiency" EXACT [Orphanet:20]
synonym: "HMG-Coa lyase deficiency" RELATED [OMIM:246450]
synonym: "Hmgcl deficiency" RELATED [OMIM:246450]
synonym: "HMGCLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246450]
synonym: "Hydroxymethylglutaric aciduria" EXACT [OMIM:246450, Orphanet:20]
synonym: "hydroxymethylglutaryl-CoA lyase deficiency" EXACT [NCIT:C84523]
xref: DOID:0070541 {source="MONDO:equivalentTo"}
xref: GARD:8387 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:20", source="Orphanet:20/attributed", source="Orphanet:20/ntbt"}
xref: MEDGEN:78692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538324 {source="MONDO:equivalentTo"}
xref: NANDO:2200497 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201119 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84523 {source="MONDO:equivalentTo"}
xref: OMIM:246450 {source="Orphanet:20", source="MONDO:equivalentTo", source="Orphanet:20/e"}
xref: Orphanet:20 {source="OMIM:246450", source="MONDO:equivalentTo"}
xref: SCTID:410059004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268601 {source="MEDGEN:78692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017713 {source="Orphanet:20"} ! disorder of fatty acid oxidation and ketogenesis
is_a: MONDO:0019215 {source="Orphanet:20"} ! classic organic aciduria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5005 {source="MONDO:mim2gene_medgen"} ! HMGCL

[Term]
id: MONDO:0009521
name: leukemia, acute myelocytic, with polyposis coli and colon cancer
synonym: "leukemia, acute myelocytic, with polyposis coli and colon cancer" EXACT [OMIM:246470]
xref: MEDGEN:383699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565441 {source="MONDO:equivalentTo"}
xref: OMIM:246470 {source="MONDO:equivalentTo"}
xref: UMLS:C1855505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383699"}
is_a: MONDO:0003847 {source="MESH:C565441/inferred"} ! hereditary disease
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0009522
name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
def: "A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." [https://orcid.org/0000-0001-5208-3432, Orphanet:1816]
subset: gard_rare {source="GARD:2044", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1816"}
subset: ordo_malformation_syndrome {source="Orphanet:1816"}
subset: orphanet_rare {source="Orphanet:1816"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Berlin syndrome" EXACT [Orphanet:1816]
synonym: "ectodermal dysplasia, Berlin type" EXACT [Orphanet:1816]
synonym: "LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis" EXACT [OMIM:246500]
synonym: "LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis" EXACT DEPRECATED [OMIM:246500]
xref: GARD:2044 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1816/attributed", source="Orphanet:1816/ntbt", source="Orphanet:1816"}
xref: MEDGEN:383698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565440 {source="MONDO:equivalentTo"}
xref: OMIM:246500 {source="Orphanet:1816/e", source="MONDO:equivalentTo", source="Orphanet:1816"}
xref: Orphanet:1816 {source="MONDO:equivalentTo", source="OMIM:246500"}
xref: SCTID:239032007 {source="MONDO:equivalentTo"}
xref: UMLS:C1855504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383698"}
is_a: MONDO:0019287 {source="Orphanet:1816", source="https://orcid.org/0000-0002-6601-2165"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7309" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2044/ectodermal-dysplasia-berlin-type" xsd:anyURI {source="GARD:0002044"}

[Term]
id: MONDO:0009523
name: Lichtenstein syndrome
def: "Lichstenstein syndrome is characterized by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive." [Orphanet:2390]
subset: gard_rare {source="GARD:3248", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2390"}
subset: orphanet_rare {source="Orphanet:2390"}
subset: rare
synonym: "Lichtenstein syndrome" EXACT [OMIM:246550]
synonym: "neutropenia immunoglobulin deficiency peculiar facies and bony anomalies" RELATED [GARD:0003248]
xref: GARD:3248 {source="MONDO:GARD"}
xref: MEDGEN:340889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535894 {source="MONDO:equivalentTo"}
xref: OMIM:246550 {source="Orphanet:2390/e", source="MONDO:equivalentTo", source="Orphanet:2390"}
xref: Orphanet:2390 {source="OMIM:246550", source="MONDO:equivalentTo"}
xref: SCTID:763668009 {source="MONDO:equivalentTo"}
xref: UMLS:C1855502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340889"}
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome" xsd:anyURI {source="GARD:0003248"}

[Term]
id: MONDO:0009524
name: intellectual disability-spasticity-ectrodactyly syndrome
def: "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." [Orphanet:1891]
subset: gard_rare {source="GARD:3523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1891"}
subset: ordo_malformation_syndrome {source="Orphanet:1891"}
subset: orphanet_rare {source="Orphanet:1891"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectrodactyly, spastic paraplegia and intellectual disability" RELATED [GARD:0003523, MESH:C537446]
synonym: "ectrodactyly, spastic paraplegia and mental retardation" RELATED DEPRECATED [GARD:0003523, MESH:C537446]
synonym: "intellectual disability spasticity ectrodactyly" RELATED [GARD:0003523]
synonym: "intellectual disability, spasticity and transverse limb defects" RELATED [GARD:0003523, MESH:C537446]
synonym: "Jancar syndrome" EXACT [GARD:0003523, MESH:C537446, Orphanet:1891]
synonym: "limb defects, distal transverse, with intellectual disability and spasticity" RELATED [OMIM:246555]
synonym: "limb defects, distal transverse, with mental retardation and spasticity" RELATED DEPRECATED [OMIM:246555]
synonym: "mental retardation spasticity ectrodactyly" RELATED DEPRECATED [GARD:0003523]
synonym: "mental retardation, spasticity and transverse limb defects" RELATED DEPRECATED [GARD:0003523, MESH:C537446]
xref: GARD:3523 {source="MONDO:GARD"}
xref: MEDGEN:340888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537446 {source="MONDO:equivalentTo"}
xref: OMIM:246555 {source="Orphanet:1891", source="GARD:0003523", source="MONDO:equivalentTo", source="Orphanet:1891/e"}
xref: Orphanet:1891 {source="MONDO:equivalentTo", source="OMIM:246555"}
xref: SCTID:763743003 {source="MONDO:equivalentTo"}
xref: UMLS:C1855501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340888"}
is_a: MONDO:0015159 {source="Orphanet:1891"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1891", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3523/mental-retardation-spasticity-ectrodactyly" xsd:anyURI {source="GARD:0003523"}

[Term]
id: MONDO:0009525
name: split hand-foot malformation 3
def: "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." [Orphanet:1307]
subset: gard_rare {source="GARD:3252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1307"}
subset: ordo_malformation_syndrome {source="Orphanet:1307"}
subset: orphanet_rare {source="Orphanet:1307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "10q24 microduplication syndrome" EXACT [Orphanet:1307]
synonym: "Buttiens Fryns syndrome" RELATED [GARD:0003252]
synonym: "Buttiens-Fryns syndrome" EXACT [Orphanet:1307]
synonym: "chromosome 10Q24 Duplication syndrome" RELATED [OMIM:246560]
synonym: "chromosome 10q24 duplication syndrome" EXACT [DOID:0090025]
synonym: "distal limb deficiencies with micrognathia" EXACT [DOID:0090025]
synonym: "distal limb deficiencies-micrognathia syndrome" RELATED [Orphanet:1307]
synonym: "limb deficiencies distal with micrognathia" RELATED [GARD:0003252]
synonym: "limb deficiencies, distal, with micrognathia" RELATED [OMIM:246560]
synonym: "SHFM3" EXACT ABBREVIATION [DOID:0090025, MONDO:Lexical, OMIM:246560]
synonym: "Shsf3" RELATED [OMIM:246560]
synonym: "split hand-foot malformation 3" EXACT CLINGEN_LABEL []
synonym: "split hand-foot malformation type 3" EXACT [DOID:0090025, MONDORULE:1]
synonym: "split-hand/foot malformation 3" RELATED [MONDO:Lexical, OMIM:246560]
synonym: "split-hand/foot malformation 3, gene duplication syndrome" EXACT [OMIM:246560, OMIM:genemap2]
synonym: "split-hand/foot malformation type 3" EXACT [MONDORULE:1, OMIM:246560]
xref: DOID:0090025 {source="MONDO:equivalentTo"}
xref: GARD:3252 {source="MONDO:GARD"}
xref: ICD10CM:Q71.6 {source="DOID:0090025"}
xref: MEDGEN:325070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565437 {source="MONDO:equivalentTo"}
xref: NCIT:C75121 {source="MONDO:equivalentTo"}
xref: OMIM:246560 {source="Orphanet:1307/e", source="DOID:0090025", source="MONDO:equivalentTo", source="Orphanet:1307", source="GARD:0003252"}
xref: Orphanet:1307 {source="OMIM:246560", source="MONDO:equivalentTo", source="GARD:0003252"}
xref: Orphanet:2440 {source="OMIM:246560", source="DOID:0090025"}
xref: SCTID:722429003 {source="MONDO:equivalentTo"}
xref: UMLS:C1838652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325070"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0015160 {source="Orphanet:1307"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016576 {source="DOID:0090025", source="NCIT:C75121", source="OMIM:246560"} ! split hand-foot malformation
is_a: MONDO:0016961 {source="Orphanet:1307"} ! partial duplication of the long arm of chromosome 10
relationship: disease_arises_from_structure CHR:9606-chr10q24 {source="https://orcid.org/0000-0002-4142-7153"} ! 10q24 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia" xsd:anyURI {source="GARD:0003252"}

[Term]
id: MONDO:0009526
name: fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
subset: gard_rare {source="GARD:2622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:480773"}
subset: rare
synonym: "FATCO syndrome" EXACT [OMIM:246570, Orphanet:480773]
synonym: "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" EXACT [OMIM:246570]
synonym: "fibular aplasia-tibial campomelia-oligosyndactyly syndrome" EXACT [Orphanet:480773]
synonym: "limb deficiency-heart malformation syndrome" RELATED [GARD:0002622]
synonym: "terminal transverse defects of the limbs associated with congenital heart malformations" EXACT [GARD:0002622]
xref: GARD:2622 {source="MONDO:GARD"}
xref: MEDGEN:340887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565436 {source="MONDO:equivalentTo"}
xref: OMIM:246570 {source="MONDO:equivalentTo"}
xref: Orphanet:480773 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1855499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340887"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009527
name: lipase deficiency, combined
def: "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders." [NCIT:C126558]
subset: gard_rare {source="GARD:10244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype
subset: ordo_subtype_of_a_disorder {source="Orphanet:535453"}
subset: rare
synonym: "combined lipase deficiency" EXACT [NCIT:C126558]
synonym: "lipase deficiency combined" RELATED [GARD:0010244]
synonym: "lipase deficiency, combined" EXACT [OMIM:246650]
synonym: "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" RELATED [OMIM:246650]
synonym: "LPL and HL deficiency" RELATED [OMIM:246650]
synonym: "LPL and HTGL deficiency" RELATED [OMIM:246650]
xref: DOID:0111422 {source="MONDO:equivalentTo"}
xref: GARD:10244 {source="MONDO:GARD"}
xref: MEDGEN:340886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535904 {source="MONDO:equivalentTo"}
xref: NCIT:C126558 {source="MONDO:equivalentTo"}
xref: OMIM:246650 {source="MONDO:equivalentTo", source="Orphanet:535453"}
xref: Orphanet:535453 {source="OMIM:246650", source="MONDO:equivalentTo"}
xref: UMLS:C1855498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340886"}
is_a: MONDO:0003847 {source="MESH:C535904/inferred"} ! hereditary disease
is_a: MONDO:0018637 {source="Orphanet:535453"} ! familial chylomicronemia syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:535453"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14154 {source="MONDO:mim2gene_medgen", source="Orphanet:535453"} ! LMF1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined" xsd:anyURI {source="GARD:0010244"}

[Term]
id: MONDO:0009528
name: chylomicron retention disease
def: "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." [Orphanet:71]
subset: gard_rare {source="GARD:9683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71"}
subset: orphanet_rare {source="Orphanet:71"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Anderson disease" EXACT [DOID:0060357, OMIM:246700, Orphanet:71]
synonym: "chylomicron retention disease" EXACT [MONDO:Lexical, OMIM:246700]
synonym: "CMRD" EXACT ABBREVIATION [DOID:0060357, MONDO:Lexical, OMIM:246700, Orphanet:71]
synonym: "CRD" EXACT ABBREVIATION [Orphanet:71]
synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells" RELATED [OMIM:246700]
synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells" RELATED [GARD:0009683]
synonym: "lipid Transport defect of intestine" RELATED [OMIM:246700]
xref: DOID:0060357 {source="MONDO:equivalentTo"}
xref: GARD:9683 {source="MONDO:GARD"}
xref: ICD10CM:E78.3 {source="DOID:0060357"}
xref: ICD10CM:E78.6 {source="Orphanet:71/attributed", source="Orphanet:71/ntbt", source="Orphanet:71"}
xref: MEDGEN:208651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535460 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"}
xref: OMIM:246700 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"}
xref: Orphanet:71 {source="MONDO:equivalentTo", source="DOID:0060357", source="OMIM:246700"}
xref: SCTID:190792005 {source="DOID:0060357"}
xref: SCTID:702364003 {source="MONDO:equivalentTo", source="DOID:0060357"}
xref: UMLS:C0795956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208651"}
is_a: MONDO:0017774 {source="MESH:C535460", source="Orphanet:71"} ! hypobetalipoproteinemia
relationship: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:71", source="Orphanet:71/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder
relationship: excluded_subClassOf MONDO:0015180 {source="Orphanet:71", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete intestinal disease due to fat malabsorption
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10535 {source="MONDO:mim2gene_medgen"} ! SAR1B
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease" xsd:anyURI {source="GARD:0009683"}

[Term]
id: MONDO:0009529
name: pyruvate dehydrogenase E3 deficiency
def: "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." [Orphanet:2394]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2394"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dihydrolipoamide dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:246900, Orphanet:2394]
synonym: "DLD deficiency" EXACT [Orphanet:2394]
synonym: "Dld deficiency" RELATED [OMIM:246900]
synonym: "DLDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246900]
synonym: "E3 deficiency" RELATED [OMIM:246900]
synonym: "E3-deficient maple syrup urine disease" EXACT [Orphanet:2394]
synonym: "lipoamide dehydrogenase deficiency, lactic acidosis due to" RELATED [OMIM:246900]
synonym: "maple syrup urine disease, type 3" RELATED [OMIM:246900]
synonym: "maple syrup urine disease, type III" RELATED [GARD:0003263]
synonym: "pyruvate dehydrogenase E3 deficiency" EXACT CLINGEN_LABEL []
xref: GARD:3263 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:2394/attributed", source="Orphanet:2394/ntbt", source="Orphanet:2394"}
xref: MEDGEN:1805500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:246900 {source="Orphanet:2394/e", source="MONDO:equivalentTo", source="Orphanet:2394"}
xref: Orphanet:2394 {source="MONDO:equivalentTo", source="OMIM:246900"}
xref: Orphanet:765 {source="OMIM:246900"}
xref: SCTID:29914000 {source="MONDO:equivalentTo"}
xref: UMLS:C5574660 {source="MEDGEN:1805500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009563 {source="DC-OMIM:246900", source="OMIM:246900"} ! maple syrup urine disease
is_a: MONDO:0018424 {source="Orphanet:2394"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0019169 {source="Orphanet:2394"} ! pyruvate dehydrogenase deficiency
relationship: excluded_subClassOf MONDO:0009637 {source="Orphanet:2394", source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2898 {source="MONDO:mim2gene_medgen"} ! DLD

[Term]
id: MONDO:0009530
name: lipoid proteinosis
def: "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications." [Orphanet:530]
subset: gard_rare {source="GARD:3268", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:530"}
subset: ordo_malformation_syndrome {source="Orphanet:530"}
subset: orphanet_rare {source="Orphanet:530"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyalinosis cutis Et mucosae" RELATED [OMIM:247100]
synonym: "hyalinosis cutis et mucosae" EXACT [Orphanet:530]
synonym: "lipid proteinosis" EXACT [DOID:14498]
synonym: "lipoid proteinosis" EXACT [DOID:14498, OMIM:247100]
synonym: "lipoid proteinosis of Urbach and Wiethe" RELATED [OMIM:247100]
synonym: "lipoproteinosis" EXACT [NCIT:C84829]
synonym: "Urbach Wiethe disease" RELATED [GARD:0003268]
synonym: "Urbach-Wiethe disease" EXACT [DOID:14498, OMIM:247100, Orphanet:530]
xref: DOID:14498 {source="MONDO:equivalentTo"}
xref: GARD:3268 {source="MONDO:GARD"}
xref: ICD10CM:E78.8 {source="Orphanet:530/index", source="Orphanet:530/ntbt", source="Orphanet:530"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008065 {source="MONDO:equivalentTo", source="DOID:14498"}
xref: NANDO:2200608 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84829 {source="MONDO:equivalentTo", source="DOID:14498"}
xref: OMIM:247100 {source="Orphanet:530/e", source="MONDO:equivalentTo", source="DOID:14498", source="Orphanet:530"}
xref: Orphanet:530 {source="OMIM:247100", source="MONDO:equivalentTo"}
xref: SCTID:238950006 {source="DOID:14498"}
xref: SCTID:38692000 {source="MONDO:equivalentTo", source="DOID:14498"}
xref: UMLS:C0023795 {source="MEDGEN:6112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0021154 {source="Orphanet:530"} ! dermis disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015123"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3153 {source="MONDO:mim2gene_medgen"} ! ECM1

[Term]
id: MONDO:0009531
name: obsolete lip prints
synonym: "lip prints" EXACT [OMIM:247150]
xref: OMIM:247150 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0009532
name: Miller-Dieker lissencephaly syndrome
def: "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." [NCIT:C124852]
subset: gard_rare {source="GARD:3669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:531"}
subset: ordo_malformation_syndrome {source="Orphanet:531"}
subset: orphanet_rare {source="Orphanet:531"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 17P13.3 deletion syndrome" RELATED [OMIM:247200]
synonym: "lissencephaly due to 17p13.3 deletion" EXACT [Orphanet:531]
synonym: "MDLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:247200]
synonym: "MDS" RELATED EXCLUDE [DOID:0060469]
synonym: "Miller-Dieker lissencephaly syndrome" EXACT [MONDO:Lexical, OMIM:247200]
synonym: "Miller-Dieker syndrome" EXACT [DOID:0060469]
synonym: "Miller-Dieker syndrome chromosome region" RELATED [OMIM:247200]
synonym: "monosomy 17p13.3" EXACT [Orphanet:531]
synonym: "telomeric deletion 17p" EXACT [Orphanet:531]
xref: DECIPHER:21 {source="MONDO:equivalentTo"}
xref: DOID:0060469 {source="MONDO:equivalentTo"}
xref: GARD:3669 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:531/ntbt", source="DOID:0060469", source="Orphanet:531/inclusion", source="Orphanet:531"}
xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068361 {source="Orphanet:531/e", source="Orphanet:531"}
xref: MEDGEN:78538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054221 {source="Orphanet:531/e", source="Orphanet:531"}
xref: NANDO:1201083 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C124852 {source="MONDO:equivalentTo"}
xref: OMIM:247200 {source="Orphanet:531/e", source="MONDO:equivalentTo", source="DOID:0060469", source="Orphanet:531"}
xref: Orphanet:531 {source="OMIM:247200", source="MONDO:equivalentTo", source="DOID:0060469"}
xref: SCTID:253148005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265219 {source="MEDGEN:78538", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060469", source="MONDO:Redundant", source="NCIT:C124852"} ! syndromic disease
is_a: MONDO:0015146 {source="Orphanet:531"} ! classic lissencephaly
is_a: MONDO:0018838 {source="MONDO:Redundant", source="NCIT:C124852", source="OMIM:247200", source="Orphanet:531/inferred"} ! lissencephaly spectrum disorders
is_a: MONDO:0022754 {source="Orphanet:531"} ! chromosome 17p deletion
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy

[Term]
id: MONDO:0009533
name: Dahlberg-Borer-Newcomer syndrome
def: "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." [Orphanet:1563]
subset: gard_rare {source="GARD:237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1563"}
subset: ordo_malformation_syndrome {source="Orphanet:1563"}
subset: orphanet_rare {source="Orphanet:1563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dahlberg Borer Newcomer syndrome" RELATED [GARD:0000237]
synonym: "Dahlberg syndrome" EXACT [Orphanet:1563]
synonym: "hypoparathyroidism lymphedema syndrome" RELATED [GARD:0000237]
synonym: "hypoparathyroidism-lymphedema syndrome" RELATED [OMIM:247410]
synonym: "lymphedema hypoparathyroidism syndrome" RELATED [GARD:0000237]
synonym: "lymphedema-hypoparathyroidism syndrome" EXACT [OMIM:247410, Orphanet:1563]
xref: GARD:237 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1563", source="Orphanet:1563/e", source="Orphanet:1563/specific"}
xref: MEDGEN:383693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535769 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"}
xref: OMIM:247410 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"}
xref: Orphanet:1563 {source="OMIM:247410", source="MONDO:equivalentTo"}
xref: SCTID:721083007 {source="MONDO:equivalentTo"}
xref: UMLS:C1855477 {source="MEDGEN:383693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:1563"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
is_a: MONDO:0019287 {source="Orphanet:1563"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome" xsd:anyURI {source="GARD:0000237"}

[Term]
id: MONDO:0009534
name: chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoblastic transformation, inhibition of" EXACT [OMIM:247430]
xref: MEDGEN:344504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565433 {source="MONDO:equivalentTo"}
xref: OMIM:247430 {source="MONDO:equivalentTo"}
xref: UMLS:C1855476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344504"}
is_a: MONDO:0015279 {source="https://orcid.org/0000-0001-5208-3432"} ! chronic mucocutaneous candidiasis

[Term]
id: MONDO:0009535
name: obsolete lymphedema, congenital recessive
comment: Obsoleted in OMIM.
synonym: "lymphedema, congenital recessive" EXACT [OMIM:247440]
xref: MESH:C565432 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:247440 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:79452 {source="OMIM:247440"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3836" xsd:anyURI
is_obsolete: true
consider: MONDO:0007919

[Term]
id: MONDO:0009536
name: chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphoblastic transformation, intrinsic defect IN" RELATED [OMIM:247450]
synonym: "lymphoblastic transformation, intrinsic defect type 1N" EXACT [MONDORULE:4, OMIM:247450]
xref: MEDGEN:340881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565431 {source="MONDO:equivalentTo"}
xref: OMIM:247450 {source="MONDO:equivalentTo"}
xref: UMLS:C1855474 {source="MEDGEN:340881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015279 {source="https://orcid.org/0000-0001-5208-3432"} ! chronic mucocutaneous candidiasis

[Term]
id: MONDO:0009537
name: lymphoid interstitial pneumonia
def: "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment." [NCIT:C27558]
subset: gard_rare {source="GARD:16700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79128"}
subset: orphanet_rare {source="Orphanet:79128"}
subset: rare
synonym: "diffuse hyperplasia of bronchus-associated lymphoid tissue" EXACT [NCIT:C27558]
synonym: "LIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:247610]
synonym: "lymphocytic interst. pneumonitis" EXACT [NCIT:C27558]
synonym: "lymphocytic interstitial pneumonia" EXACT [Orphanet:79128]
synonym: "lymphocytic interstitial pneumonitis" EXACT [NCIT:C27558]
synonym: "lymphoid interstitial pneumonia" EXACT [MONDO:Lexical, OMIM:247610]
xref: DOID:0050159 {source="MONDO:equivalentTo"}
xref: GARD:16700 {source="MONDO:GARD"}
xref: ICD10CM:J84.1 {source="Orphanet:79128", source="Orphanet:79128/ntbt"}
xref: ICD10CM:J84.2 {source="MONDO:equivalentTo"}
xref: icd11.foundation:1140418798 {source="Orphanet:79128", source="MONDO:equivalentTo"}
xref: ICD9:516.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062997 {source="Orphanet:79128", source="Orphanet:79128/e"}
xref: MEDGEN:82682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562489 {source="MONDO:equivalentTo"}
xref: NANDO:1200424 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27558 {source="MONDO:equivalentTo"}
xref: OMIM:247610 {source="Orphanet:79128", source="MONDO:equivalentTo", source="Orphanet:79128/e"}
xref: Orphanet:79128 {source="MONDO:equivalentTo", source="OMIM:247610"}
xref: SCTID:44274007 {source="MONDO:equivalentTo"}
xref: UMLS:C0264511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82682"}
is_a: MONDO:0002429 {source="DOID:0050159", source="NCIT:C27558", source="Orphanet:79128", source="Wikipedia:Idiopathic_interstitial_pneumonia"} ! idiopathic interstitial pneumonia

[Term]
id: MONDO:0009538
name: lymphoid system deterioration, progressive
synonym: "lymphoid system deterioration, progressive" EXACT [OMIM:247630]
xref: MEDGEN:340880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565430 {source="MONDO:equivalentTo"}
xref: OMIM:247630 {source="MONDO:equivalentTo"}
xref: UMLS:C1855473 {source="MONDO:equivalentTo", source="MEDGEN:340880", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009539
name: lymphoblastic leukemia, acute, with lymphomatous features
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lall" RELATED [MONDO:Lexical, OMIM:247640]
synonym: "leukemia, acute lymphoblastic" EXACT [OMIM:247640, OMIM:genemap2]
synonym: "lymphoblastic leukemia, acute, with lymphomatous features" EXACT [MONDO:Lexical, OMIM:247640]
synonym: "lymphomatous All" RELATED [OMIM:247640]
xref: MEDGEN:340879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565429 {source="MONDO:equivalentTo"}
xref: OMIM:247640 {source="MONDO:equivalentTo"}
xref: Orphanet:513 {source="OMIM:247640"}
xref: UMLS:C1855472 {source="MEDGEN:340879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004967 {source="DC-OMIM:247640"} ! acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009540
name: chronic mucocutaneous candidiasis due to lymphokine deficiency
subset: gard_rare {source="GARD:15194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphokine deficiency" EXACT [OMIM:247650]
xref: GARD:15194 {source="MONDO:GARD"}
xref: MEDGEN:340878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565428 {source="MONDO:equivalentTo"}
xref: OMIM:247650 {source="MONDO:equivalentTo"}
xref: UMLS:C1855471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340878"}
is_a: MONDO:0015279 {source="Orphanet:1334/btnt"} ! chronic mucocutaneous candidiasis

[Term]
id: MONDO:0009541
name: lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis
synonym: "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis" EXACT [OMIM:247800]
xref: MEDGEN:340877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565427 {source="MONDO:equivalentTo"}
xref: OMIM:247800 {source="MONDO:equivalentTo"}
xref: UMLS:C1855470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340877"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009542
name: lysine malabsorption syndrome
synonym: "lysine malabsorption syndrome" EXACT [OMIM:247950]
xref: MEDGEN:167097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563080 {source="MONDO:equivalentTo"}
xref: OMIM:247950 {source="MONDO:equivalentTo"}
xref: UMLS:C0796023 {source="MEDGEN:167097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563080/inferred"} ! hereditary disease
is_a: MONDO:0020598 {source="https://orcid.org/0000-0001-5208-3432"} ! malabsorption syndrome

[Term]
id: MONDO:0009543
name: prominent glabella-microcephaly-hypogenitalism syndrome
def: "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." [Orphanet:2083]
subset: gard_rare {source="GARD:144", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2083"}
subset: ordo_malformation_syndrome {source="Orphanet:2083"}
subset: orphanet_rare {source="Orphanet:2083"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mac Dermot Winter syndrome" RELATED [GARD:0000144]
synonym: "MacDermot-Winter syndrome" EXACT [GARD:0000144, OMIM:247990, Orphanet:2083]
synonym: "prominent glabella microcephaly hypogenitalism" RELATED [GARD:0000144]
xref: GARD:144 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2083", source="Orphanet:2083/attributed", source="Orphanet:2083/ntbt"}
xref: MEDGEN:162900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537714 {source="MONDO:equivalentTo"}
xref: OMIM:247990 {source="Orphanet:2083/e", source="GARD:0000144", source="MONDO:equivalentTo", source="Orphanet:2083"}
xref: Orphanet:2083 {source="GARD:0000144", source="OMIM:247990", source="MONDO:equivalentTo"}
xref: UMLS:C0796024 {source="MEDGEN:162900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2083"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2083", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome" xsd:anyURI {source="GARD:0000144"}

[Term]
id: MONDO:0009544
name: macrocephaly/megalencephaly syndrome, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fryns Dereymaeker Haegeman syndrome" RELATED [GARD:0000148]
synonym: "intellectual disability, macrocephaly, short stature and craniofacial dysmorphism" RELATED [GARD:0000148]
synonym: "macrocephaly/megalencephaly syndrome, autosomal recessive" EXACT [MONDO:Lexical, OMIM:248000]
synonym: "mental retardation, macrocephaly, short stature and craniofacial dysmorphism" RELATED DEPRECATED [GARD:0000148]
synonym: "MGCPH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248000]
xref: MEDGEN:812742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537453 {source="MONDO:equivalentTo"}
xref: OMIM:248000 {source="MONDO:equivalentTo", source="GARD:0000148"}
xref: Orphanet:2477 {source="OMIM:248000"}
xref: UMLS:C3806412 {source="MEDGEN:812742", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016608 {source="MESH:C537453", source="Orphanet:2477/btnt"} ! megalencephaly

[Term]
id: MONDO:0009545
name: macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
synonym: "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" EXACT [OMIM:248010]
synonym: "Macroepiphyseal dysplasia, McAlister coe type" RELATED [GARD:0000173]
synonym: "McAlister coe Whyte syndrome" RELATED [GARD:0000173]
xref: MEDGEN:419847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537721 {source="MONDO:equivalentTo"}
xref: OMIM:248010 {source="MONDO:equivalentTo"}
xref: UMLS:C2931597 {source="MEDGEN:419847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance" xsd:anyURI {source="GARD:0000173"}

[Term]
id: MONDO:0009546
name: macrosomia adiposa congenita
synonym: "macrosomia adiposa congenita" EXACT [OMIM:248100]
xref: MEDGEN:340875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565425 {source="MONDO:equivalentTo"}
xref: OMIM:248100 {source="MONDO:equivalentTo"}
xref: UMLS:C1855468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340875"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009547
name: macrosomia-microphthalmia-cleft palate syndrome
def: "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." [Orphanet:2432]
subset: gard_rare {source="GARD:177", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2432"}
subset: ordo_malformation_syndrome {source="Orphanet:2432"}
subset: orphanet_rare {source="Orphanet:2432"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrosomia microphthalmia cleft palate" RELATED [GARD:0000177]
synonym: "macrosomia with lethal microphthalmia" RELATED [GARD:0000177]
synonym: "macrosomia with microphthalmia, lethal" RELATED [OMIM:248110]
synonym: "Teebi Al-Saleh Hassoon syndrome" RELATED [GARD:0000177]
synonym: "Teebi-Al Saleh-Hassoon syndrome" EXACT [Orphanet:2432]
xref: GARD:177 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2432", source="Orphanet:2432/attributed", source="Orphanet:2432/ntbt"}
xref: MEDGEN:340874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537830 {source="MONDO:equivalentTo"}
xref: OMIM:248110 {source="Orphanet:2432", source="GARD:0000177", source="MONDO:equivalentTo", source="Orphanet:2432/e"}
xref: Orphanet:2432 {source="OMIM:248110", source="GARD:0000177", source="MONDO:equivalentTo"}
xref: UMLS:C1855467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340874"}
is_a: MONDO:0015161 {source="Orphanet:2432"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0009548
name: renal hypomagnesemia 5 with ocular involvement
def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." [Orphanet:2196]
subset: gard_rare {source="GARD:3451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2196"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral macular coloboma with hypercalciuria" EXACT [DOID:0060881]
synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT [DOID:0060881]
synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" RELATED [Orphanet:2196]
synonym: "FHHNC with severe ocular involvement" EXACT [DOID:0060881, OMIM:248190, Orphanet:2196]
synonym: "FHHNCOI" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "HOMG5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248190]
synonym: "hypercalciuria-bilateral macular coloboma syndrome" EXACT [DOID:0060881, Orphanet:2196]
synonym: "hypomagnesemia 5, renal, with ocular involvement" RELATED [MONDO:Lexical, OMIM:248190]
synonym: "hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement" RELATED [OMIM:248190]
synonym: "hypomagnesemia, renal, with ocular involvement" RELATED [OMIM:248190]
synonym: "idiopathic hypercalciuria with bilateral macular colobomata" RELATED [GARD:0003451, MESH:C536148]
synonym: "macular coloboma, bilateral, with hypercalciuria" RELATED [OMIM:248190]
synonym: "Meier Blumberg Imahorn syndrome" RELATED [GARD:0003451]
synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [DOID:0060881, Orphanet:2196]
xref: DOID:0060881 {source="MONDO:equivalentTo"}
xref: GARD:3451 {source="MONDO:GARD"}
xref: ICD10CM:E83.4 {source="DOID:0060881", source="Orphanet:2196/attributed", source="Orphanet:2196/ntbt", source="Orphanet:2196"}
xref: MEDGEN:1648449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536148 {source="MONDO:equivalentTo"}
xref: OMIM:248190 {source="DOID:0060881", source="Orphanet:2196/e", source="MONDO:equivalentTo", source="GARD:0003451", source="Orphanet:2196"}
xref: Orphanet:2196 {source="DOID:0060881", source="MONDO:equivalentTo", source="OMIM:248190"}
xref: UMLS:C4721891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648449"}
is_a: MONDO:0017624 {source="Orphanet:2196"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
is_a: MONDO:0018100 {source="DOID:0060881", source="MONDO:Redundant", source="OMIM:248190", source="Orphanet:2196/inferred"} ! familial primary hypomagnesemia
is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hereditary macular dystrophy
relationship: excluded_subClassOf MONDO:0010645 {source="MESH:C536148", source="https://orcid.org/0000-0001-5208-3432"} ! oculocerebrorenal syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2040 {source="MONDO:mim2gene_medgen"} ! CLDN19
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome" xsd:anyURI {source="GARD:0003451"}

[Term]
id: MONDO:0009549
name: severe early-childhood-onset retinal dystrophy
def: "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." [Orphanet:364055]
subset: gard_rare {source="GARD:21565", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:364055"}
subset: orphanet_rare {source="Orphanet:364055"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset severe retinal dystrophy" EXACT [Orphanet:364055]
synonym: "EOSRD" EXACT ABBREVIATION [Orphanet:364055]
synonym: "fundus flavimaculatus" RELATED [OMIM:248200]
synonym: "macular Degeneration, juvenile" RELATED [OMIM:248200]
synonym: "macular dystrophy with flecks, type 1" RELATED [OMIM:248200]
synonym: "retinal dystrophy, early-onset severe" RELATED [OMIM:248200]
synonym: "SECORD" EXACT ABBREVIATION [Orphanet:364055]
synonym: "Stargardt disease 1" RELATED [MONDO:Lexical, OMIM:248200]
synonym: "Stargardt disease type 1" EXACT [MONDORULE:1, OMIM:248200]
synonym: "Stgd" RELATED [OMIM:248200]
synonym: "STGD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248200]
xref: GARD:21565 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:364055", source="MONDO:relatedTo", source="Orphanet:364055/attributed", source="Orphanet:364055/ntbt"}
xref: MEDGEN:383691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:248200 {source="MONDO:equivalentTo"}
xref: Orphanet:364055 {source="MONDO:equivalentTo"}
xref: Orphanet:827 {source="OMIM:248200"}
xref: SCTID:716663009 {source="MONDO:equivalentTo"}
xref: UMLS:C1855465 {source="MEDGEN:383691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019353 {source="DC-OMIM:248200"} ! Stargardt disease
is_a: MONDO:0800406 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4-related retinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0009550
name: renal hypomagnesemia 3
def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." [Orphanet:31043]
subset: gard_rare {source="GARD:2906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:31043"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLDN16 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CLDN16 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial primary hypomagnesemia caused by mutation in CLDN16" EXACT []
synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT [DOID:0060880]
synonym: "FHHNC without severe ocular involvement" EXACT [DOID:0060880, Orphanet:31043]
synonym: "HOMG3" EXACT ABBREVIATION [DOID:0060880, MESH:C537153, MONDO:Lexical, OMIM:248250, Orphanet:31043]
synonym: "hypercalciuria, childhood, self-limiting" RELATED [OMIM:248250]
synonym: "hypomagnesemia 3, renal" RELATED [MESH:C537153, MONDO:Lexical, OMIM:248250]
synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis" RELATED [MESH:C537153, OMIM:248250]
synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included" RELATED [MESH:C537153]
synonym: "hypomagnesemia, isolated renal" RELATED [MESH:C537153, OMIM:248250]
synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium" RELATED [MESH:C537153]
synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium" RELATED [OMIM:248250]
synonym: "isolated renal hypomagnesemia" EXACT [DOID:0060880]
synonym: "magnesium, defect in renal tubular transport of" RELATED [MESH:C537153]
synonym: "primary hypomagnesemia caused by mutation in CLDN16" EXACT [MONDO:design_pattern]
synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [DOID:0060880]
synonym: "renal hypomagnesemia type 3" EXACT [DOID:0060880, MONDORULE:1, Orphanet:31043]
xref: DOID:0060880 {source="MONDO:equivalentTo"}
xref: GARD:2906 {source="MONDO:GARD"}
xref: ICD10CM:E83.4 {source="DOID:0060880", source="Orphanet:31043/attributed", source="Orphanet:31043/ntbt", source="Orphanet:31043"}
xref: MEDGEN:120640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537153 {source="MONDO:equivalentTo"}
xref: OMIM:248250 {source="DOID:0060880", source="Orphanet:31043/e", source="MONDO:equivalentTo", source="Orphanet:31043"}
xref: Orphanet:31043 {source="DOID:0060880", source="MONDO:equivalentTo", source="OMIM:248250"}
xref: SCTID:725033008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120640"}
is_a: MONDO:0001567 {source="MESH:C537153"} ! nephrocalcinosis
is_a: MONDO:0006510 {source="MESH:C537153"} ! renal tubular transport disease
is_a: MONDO:0017624 {source="Orphanet:31043"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
is_a: MONDO:0018100 {source="DOID:0060880", source="MONDO:Redundant", source="OMIM:248250", source="Orphanet:31043/inferred"} ! familial primary hypomagnesemia
intersection_of: MONDO:0018100 ! familial primary hypomagnesemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2037 ! CLDN16
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2037 {source="MONDO:mim2gene_medgen"} ! CLDN16

[Term]
id: MONDO:0009551
name: magnesium, elevated red cell
synonym: "magnesium, elevated red cell" EXACT [OMIM:248260]
xref: MEDGEN:343360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:248260 {source="MONDO:equivalentTo"}
xref: UMLS:C1855464 {source="MEDGEN:343360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009552
name: mal de Meleda
def: "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." [Orphanet:87503]
subset: gard_rare {source="GARD:92", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1428"}
subset: ordo_disorder {source="Orphanet:87503"}
subset: orphanet_rare {source="Orphanet:87503"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratosis palmoplantaris transgradiens of Siemens" RELATED [GARD:0000092]
synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503]
synonym: "MAL DE Meleda" RELATED [OMIM:248300]
synonym: "mal de Meleda" EXACT CLINGEN_LABEL [GARD:0000092, MONDO:Lexical, OMIM:248300]
synonym: "MDM" RELATED ABBREVIATION [GARD:0000092, MONDO:Lexical, OMIM:248300]
synonym: "Meleda Disease" EXACT [NORD:1428]
synonym: "Meleda disease" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503]
synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [DOID:0060862, Orphanet:87503]
xref: DOID:0060862 {source="MONDO:equivalentTo"}
xref: GARD:92 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:87503/attributed", source="Orphanet:87503/ntbt", source="DOID:0060862", source="Orphanet:87503"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1428 {source="MONDO:NORD"}
xref: OMIM:248300 {source="DOID:0060862", source="Orphanet:87503", source="MONDO:equivalentTo", source="Orphanet:87503/e", source="GARD:0000092"}
xref: Orphanet:87503 {source="DOID:0060862", source="OMIM:248300", source="MONDO:equivalentTo", source="GARD:0000092"}
xref: SCTID:239069005 {source="MONDO:equivalentTo"}
xref: UMLS:C0025221 {source="MEDGEN:7522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18746 {source="MONDO:mim2gene_medgen"} ! SLURP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009553
name: obsolete Plasmodium falciparum blood infection level
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "malaria, intensity of infection" EXACT [OMIM:248310, OMIM:genemap2]
synonym: "Pfbi" RELATED [OMIM:248310]
synonym: "Plasmodium falciparum blood infection level" EXACT [OMIM:248310]
synonym: "Plasmodium falciparum parasitemia" RELATED [OMIM:248310]
xref: OMIM:248310 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0009554
name: 3MC syndrome 3
def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:8531", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "3MC syndrome 3" EXACT [MONDO:Lexical, OMIM:248340]
synonym: "3MC syndrome caused by mutation in COLEC10" EXACT [MONDO:design_pattern]
synonym: "3MC syndrome type 3" EXACT [DOID:0060577, MONDORULE:1]
synonym: "3Mc syndrome type 3" EXACT [MONDORULE:1, OMIM:248340]
synonym: "3MC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248340]
synonym: "COLEC10 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "facial clefting syndrome, Gypsy type" RELATED [OMIM:248340]
synonym: "Malpuech Facial clefting syndrome" RELATED [OMIM:248340]
synonym: "Malpuech Facial clefting syndrome, formerly" RELATED [OMIM:248340]
xref: DOID:0060577 {source="MONDO:equivalentTo"}
xref: GARD:8531 {source="MONDO:GARD"}
xref: MEDGEN:208657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535704 {source="MONDO:equivalentTo"}
xref: OMIM:248340 {source="MONDO:equivalentTo", source="DOID:0060577"}
xref: Orphanet:2453 {source="OMIM:248340", source="MONDO:equivalentObsolete"}
xref: Orphanet:293843 {source="OMIM:248340"}
xref: UMLS:C0796032 {source="MEDGEN:208657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017398 {source="DC-OMIM:248340", source="DOID:0060577", source="MONDO:Redundant", source="OMIM:248340"} ! 3MC syndrome
intersection_of: MONDO:0017398 ! 3MC syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2220 ! COLEC10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2220 {source="MONDO:mim2gene_medgen"} ! COLEC10

[Term]
id: MONDO:0009555
name: malocclusion and short stature
synonym: "malocclusion and short stature" EXACT [OMIM:248350]
xref: MEDGEN:343357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565421 {source="MONDO:equivalentTo"}
xref: OMIM:248350 {source="MONDO:equivalentTo"}
xref: UMLS:C1855453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343357"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009556
name: malonic aciduria
def: "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)." [Orphanet:943]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:943"}
subset: orphanet_rare {source="Orphanet:943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malonic acidemia" RELATED [GARD:0003371]
synonym: "malonic aciduria" EXACT CLINGEN_LABEL []
synonym: "Malonicaciduria" RELATED [GARD:0003371]
synonym: "malonyl-CoA decarboxylase deficiency" EXACT [OMIM:248360, Orphanet:943]
synonym: "MCD deficiency" RELATED [GARD:0003371]
xref: GARD:3371 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:943/attributed", source="Orphanet:943/ntbt", source="Orphanet:943"}
xref: MEDGEN:91001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535702 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"}
xref: OMIM:248360 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"}
xref: Orphanet:943 {source="MONDO:equivalentTo", source="OMIM:248360"}
xref: SCTID:361203007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342793 {source="MEDGEN:91001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0005066 {source="Orphanet:943"} ! metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7150 {source="MONDO:mim2gene_medgen"} ! MLYCD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009557
name: mandibuloacral dysplasia with type A lipodystrophy
def: "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." [NCIT:C123417]
subset: gard_rare {source="GARD:3374", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90153"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniomandibular Dermatodysostosis" RELATED [OMIM:248370]
synonym: "lipodystrophy, type A, associated with Mandibuloacral dysplasia" RELATED [OMIM:248370]
synonym: "MADA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248370]
synonym: "mandibuloacral dysplasia" BROAD [OMIM:248370, OMIM:genemap2]
synonym: "MANDIBULOACRAL dysplasia with type A lipodystrophy" RELATED [OMIM:248370]
synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [MONDO:Lexical, OMIM:248370]
synonym: "Mandibuloacral dysplasia with type a lipodystrophy, atypical" RELATED [OMIM:248370]
xref: DOID:0081128 {source="MONDO:equivalentTo"}
xref: GARD:3374 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:90153/attributed", source="Orphanet:90153/ntbt", source="Orphanet:90153"}
xref: MEDGEN:1757618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535705 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"}
xref: NCIT:C123417 {source="MONDO:equivalentTo"}
xref: OMIM:248370 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"}
xref: Orphanet:2457 {source="OMIM:248370"}
xref: Orphanet:90153 {source="MONDO:equivalentTo", source="OMIM:248370"}
xref: SCTID:109419009 {source="MONDO:equivalentTo"}
xref: UMLS:C5399785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1757618"}
is_a: MONDO:0016584 {source="DC-OMIM:248370", source="OMIM:248370", source="Orphanet:90153"} ! mandibuloacral dysplasia
is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy" xsd:anyURI {source="GARD:0003374"}

[Term]
id: MONDO:0009558
name: Treacher Collins syndrome 3
def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mandibulofacial dysostosis, Treacher Collins type, autosomal recessive" RELATED [OMIM:248390]
synonym: "POLR1C Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TCS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248390]
synonym: "TREACHER COLLINS syndrome 3" RELATED [OMIM:248390]
synonym: "Treacher Collins syndrome 3" EXACT [MONDO:Lexical, OMIM:248390]
synonym: "Treacher Collins syndrome type 3" EXACT [MONDORULE:1, OMIM:248390]
synonym: "Treacher-Collins syndrome caused by mutation in POLR1C" EXACT [MONDO:design_pattern]
xref: DOID:0080791 {source="MONDO:equivalentTo"}
xref: GARD:9125 {source="MONDO:GARD"}
xref: MEDGEN:340868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535707 {source="MONDO:equivalentTo"}
xref: OMIM:248390 {source="MONDO:equivalentTo"}
xref: Orphanet:861 {source="OMIM:248390"}
xref: UMLS:C1855433 {source="MEDGEN:340868", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002457 {source="MONDO:Redundant", source="OMIM:248390"} ! Treacher-Collins syndrome
intersection_of: MONDO:0002457 ! Treacher-Collins syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 ! POLR1C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 {source="MONDO:mim2gene_medgen"} ! POLR1C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3" xsd:anyURI {source="GARD:0009125"}

[Term]
id: MONDO:0009559
name: mandibulofacial dysostosis with mental deficiency
subset: otar {source="MONDO:OTAR"}
synonym: "mandibulofacial dysostosis with intellectual disability" RELATED [OMIM:248400]
synonym: "mandibulofacial dysostosis with mental deficiency" EXACT [OMIM:248400]
synonym: "mandibulofacial dysostosis with mental retardation" RELATED DEPRECATED [OMIM:248400]
xref: MEDGEN:1632207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565420 {source="MONDO:equivalentTo"}
xref: OMIM:248400 {source="MONDO:equivalentTo"}
xref: UMLS:C4692584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632207"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009560
name: oculotrichoanal syndrome
subset: gard_rare {source="GARD:3395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2717"}
subset: ordo_malformation_syndrome {source="Orphanet:2717"}
subset: orphanet_rare {source="Orphanet:2717"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MANITOBA oculotrichoanal syndrome" RELATED [MONDO:Lexical, OMIM:248450]
synonym: "Manitoba oculotrichoanal syndrome" EXACT [Orphanet:2717]
synonym: "Manitoba Trichoanal syndrome" RELATED [GARD:0003395]
synonym: "Marles syndrome" EXACT [OMIM:248450, Orphanet:2717]
synonym: "Marles-Greenberg-Persaud syndrome" EXACT [Orphanet:2717]
synonym: "MOTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248450]
synonym: "MOTA syndrome" EXACT [Orphanet:2717]
synonym: "unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" RELATED [GARD:0003395]
xref: GARD:3395 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2717/attributed", source="Orphanet:2717/ntbt", source="Orphanet:2717"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:383680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536022 {source="MONDO:equivalentTo"}
xref: OMIM:248450 {source="Orphanet:2717/e", source="MONDO:equivalentTo", source="Orphanet:2717"}
xref: Orphanet:2717 {source="OMIM:248450", source="MONDO:equivalentTo"}
xref: SCTID:703539006 {source="MONDO:equivalentTo"}
xref: UMLS:C1855425 {source="MEDGEN:383680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:2717"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:2717", source="Orphanet:2717/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 {source="MONDO:mim2gene_medgen"} ! FREM1

[Term]
id: MONDO:0009561
name: alpha-mannosidosis
def: "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." [Orphanet:61]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6968", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:755"}
subset: ordo_disorder {source="Orphanet:61"}
subset: orphanet_rare {source="Orphanet:61"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha mannosidase B deficiency" RELATED [GARD:0006968]
synonym: "Alpha-D-mannosidosis" EXACT [DOID:3413]
synonym: "Alpha-mannosidase B deficiency" RELATED [OMIM:248500]
synonym: "alpha-mannosidase deficiency" EXACT [DOID:3413]
synonym: "alpha-mannosidosis" EXACT CLINGEN_LABEL [OMIM:248500]
synonym: "deficiency of alpha-mannosidase" EXACT [DOID:3413]
synonym: "lysosomal Alpha-D-mannosidase deficiency" RELATED [OMIM:248500]
synonym: "lysosomal alpha-D-mannosidase deficiency" EXACT [Orphanet:61]
synonym: "mannosidosis, alpha B lysosomal" RELATED [GARD:0006968]
synonym: "mannosidosis, ALPHA B, lysosomal" RELATED [MONDO:Lexical, OMIM:248500]
synonym: "mannosidosis, alpha-, types I and II" EXACT [OMIM:248500, OMIM:genemap2]
synonym: "MANSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248500]
xref: DOID:3413 {source="MONDO:equivalentTo"}
xref: GARD:6968 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:61/ntbt", source="Orphanet:61/inclusion", source="Orphanet:61"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008363 {source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61"}
xref: NANDO:1200126 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84548 {source="MONDO:equivalentTo", source="DOID:3413"}
xref: NORD:755 {source="MONDO:NORD"}
xref: OMIM:248500 {source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61"}
xref: Orphanet:61 {source="MONDO:equivalentTo", source="OMIM:248500"}
xref: SCTID:124466001 {source="DOID:3413"}
xref: SCTID:65524005 {source="MONDO:equivalentTo", source="DOID:3413"}
xref: UMLS:C0024748 {source="MEDGEN:7467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019251 {source="Orphanet:61"} ! oligosaccharidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_disruption_of GO:0004559 ! alpha-mannosidase activity
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: disease_has_feature MONDO:0005066 ! metabolic disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6826 {source="MONDO:mim2gene_medgen"} ! MAN2B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis" xsd:anyURI {source="GARD:0006968"}

[Term]
id: MONDO:0009562
name: beta-mannosidosis
def: "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." [Orphanet:118]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:869", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:118"}
subset: orphanet_rare {source="Orphanet:118"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta-D-mannosidosis" EXACT [DOID:3633]
synonym: "Beta-mannosidase deficiency" EXACT [OMIM:248510, Orphanet:118]
synonym: "beta-mannosidase deficiency" EXACT [DOID:3633]
synonym: "beta-mannosidosis" EXACT [OMIM:248510]
synonym: "lysosomal Beta-mannosidase deficiency" RELATED [OMIM:248510]
synonym: "lysosomal beta-mannosidase deficiency" EXACT [DOID:3633]
synonym: "mannosidosis, beta" EXACT [OMIM:248510, OMIM:genemap2]
synonym: "mannosidosis, BETA A, lysosomal" RELATED [MONDO:Lexical, OMIM:248510]
synonym: "MANSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248510]
xref: DOID:3633 {source="MONDO:equivalentTo"}
xref: GARD:869 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:118/inclusion", source="Orphanet:118/ntbt", source="Orphanet:118"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:888408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D044905 {source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633", source="Orphanet:118/e"}
xref: NANDO:1200129 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201190 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84596 {source="MONDO:equivalentTo", source="DOID:3633"}
xref: OMIM:248510 {source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633", source="Orphanet:118/e"}
xref: Orphanet:118 {source="OMIM:248510", source="MONDO:equivalentTo"}
xref: SCTID:238047006 {source="MONDO:equivalentTo", source="DOID:3633"}
xref: UMLS:C4048196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:888408"}
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019251 {source="Orphanet:118"} ! oligosaccharidosis
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6831 {source="MONDO:mim2gene_medgen"} ! MANBA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009563
name: maple syrup urine disease
def: "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." [NCIT:P378]
comment: Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3228", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1400"}
subset: ordo_disorder {source="Orphanet:511"}
subset: orphanet_rare {source="Orphanet:511"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "BCKD deficiency" EXACT [Orphanet:511]
synonym: "BCKDH deficiency" EXACT [Orphanet:511]
synonym: "branched chain ketoaciduria" EXACT [DOID:9269]
synonym: "branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:511]
synonym: "branched-chain Alpha-Keto acid dehydrogenase deficiency" RELATED [OMIM:248600]
synonym: "branched-chain ketoaciduria" EXACT [OMIM:248600, Orphanet:511]
synonym: "dihydrolipoamide dehydrogenase deficiency" RELATED [DOID:9269, OMIM:246900]
synonym: "Keto acid decarboxylase deficiency" RELATED [OMIM:248600]
synonym: "Ketoacidaemia" EXACT [DOID:9269]
synonym: "maple syrup urine disease" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:248600]
synonym: "maple syrup urine disease, classic" RELATED [OMIM:248600]
synonym: "maple syrup urine disease, Intermediate" RELATED [OMIM:248600]
synonym: "maple syrup urine disease, intermittent" RELATED [OMIM:248600]
synonym: "maple syrup urine disease, thiamine-responsive" RELATED [OMIM:248600]
synonym: "maple syrup urine disease, type 1A" NARROW [OMIM:248600]
synonym: "maple syrup urine disease, type 1B" NARROW [OMIM:248600]
synonym: "maple syrup urine disease, type 2" NARROW [OMIM:248600]
synonym: "MSUD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:248600, Orphanet:511]
xref: DOID:9269 {source="MONDO:equivalentTo"}
xref: GARD:3228 {source="MONDO:GARD"}
xref: ICD10CM:E71.0 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269", source="Orphanet:511/specific"}
xref: icd11.foundation:1623706568 {source="Orphanet:511", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10026817 {source="Orphanet:511", source="Orphanet:511/e"}
xref: MEDGEN:6217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008375 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269"}
xref: NANDO:1200791 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200473 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34806 {source="MONDO:equivalentTo", source="DOID:9269"}
xref: NORD:1400 {source="MONDO:NORD"}
xref: OMIMPS:248600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:268145 {source="OMIM:248600"}
xref: Orphanet:268162 {source="OMIM:248600"}
xref: Orphanet:268173 {source="OMIM:248600"}
xref: Orphanet:268184 {source="OMIM:248600"}
xref: Orphanet:511 {source="MONDO:equivalentTo", source="OMIM:248600", source="DOID:9269"}
xref: SCTID:27718001 {source="MONDO:equivalentTo", source="DOID:9269"}
xref: UMLS:C0024776 {source="MEDGEN:6217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000688 {source="DOID:9269"} ! inborn organic aciduria
is_a: MONDO:0003847 {source="MESH:D008375/inferred", source="MONDO:Redundant", source="NCIT:C34806", source="Orphanet:511/inferred"} ! hereditary disease
is_a: MONDO:0019242 {source="Orphanet:511"} ! inborn disorder of branched-chain amino acid metabolism
relationship: disease_has_feature HP:0001250 ! Seizure
relationship: disease_has_feature HP:0001276 ! Hypertonia
relationship: disease_has_feature HP:0010864 ! Intellectual disability, severe
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:248600"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009564
name: Marden-Walker syndrome
def: "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." [Orphanet:2461]
subset: gard_rare {source="GARD:6973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1402"}
subset: ordo_disorder {source="Orphanet:2461"}
subset: ordo_malformation_syndrome {source="Orphanet:2461"}
subset: orphanet_rare {source="Orphanet:2461"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "connective tissue disorder Marden Walker type" RELATED [GARD:0006973]
synonym: "Marden Walker Syndrome" EXACT [NORD:1402]
synonym: "MARDEN-WALKER syndrome" RELATED [OMIM:248700]
synonym: "Marden-Walker syndrome" EXACT [MONDO:Lexical, OMIM:248700]
synonym: "MWKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248700]
synonym: "Mws" RELATED [OMIM:248700]
xref: GARD:6973 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2461/attributed", source="Orphanet:2461/ntbt", source="Orphanet:2461"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535910 {source="Orphanet:2461/e", source="MONDO:equivalentTo", source="Orphanet:2461"}
xref: NORD:1402 {source="MONDO:NORD"}
xref: OMIM:248700 {source="Orphanet:2461/e", source="MONDO:equivalentTo", source="Orphanet:2461"}
xref: Orphanet:2461 {source="MONDO:equivalentTo", source="OMIM:248700"}
xref: SCTID:449824004 {source="MONDO:equivalentTo"}
xref: UMLS:C0796033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163206"}
is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0015159 {source="Orphanet:2461"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015168 {source="Orphanet:2461"} ! arthrogryposis multiplex congenita
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2461", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:2461", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009565
name: microcephaly-glomerulonephritis-marfanoid habitus syndrome
def: "This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." [Orphanet:2172]
subset: gard_rare {source="GARD:3615", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2172"}
subset: ordo_malformation_syndrome {source="Orphanet:2172"}
subset: orphanet_rare {source="Orphanet:2172"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MARFANOID habitus with microcephaly and glomerulonephritis" RELATED [OMIM:248760]
synonym: "microcephaly glomerulonephritis Marfanoid habitus" RELATED [GARD:0003615]
xref: GARD:3615 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2172/attributed", source="Orphanet:2172/ntbt", source="Orphanet:2172"}
xref: MEDGEN:343327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565411 {source="MONDO:equivalentTo"}
xref: OMIM:248760 {source="Orphanet:2172/e", source="MONDO:equivalentTo", source="Orphanet:2172"}
xref: Orphanet:2172 {source="OMIM:248760", source="MONDO:equivalentTo", source="GARD:0003615"}
xref: UMLS:C1855348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343327"}
is_a: MONDO:0015159 {source="Orphanet:2172"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2172", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus" xsd:anyURI {source="GARD:0003615"}

[Term]
id: MONDO:0009566
name: marfanoid habitus-autosomal recessive intellectual disability syndrome
def: "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." [Orphanet:2463]
subset: gard_rare {source="GARD:3388", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2463"}
subset: ordo_malformation_syndrome {source="Orphanet:2463"}
subset: orphanet_rare {source="Orphanet:2463"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Marfanoid intellectual disability syndrome autosomal" RELATED [GARD:0003388]
synonym: "MARFANOID intellectual disability syndrome, autosomal" RELATED [OMIM:248770]
synonym: "Marfanoid mental retardation syndrome autosomal" RELATED DEPRECATED [GARD:0003388]
synonym: "MARFANOID mental retardation syndrome, autosomal" RELATED DEPRECATED [OMIM:248770]
xref: GARD:3388 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2463", source="Orphanet:2463/attributed", source="Orphanet:2463/ntbt"}
xref: MEDGEN:343326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565410 {source="MONDO:equivalentTo"}
xref: OMIM:248770 {source="Orphanet:2463", source="MONDO:equivalentTo", source="Orphanet:2463/e"}
xref: Orphanet:2463 {source="OMIM:248770", source="MONDO:equivalentTo"}
xref: UMLS:C1855347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343326"}
is_a: MONDO:0015159 {source="Orphanet:2463"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2463", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009567
name: Marinesco-Sjogren syndrome
def: "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development." [Orphanet:559]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1406"}
subset: ordo_disorder {source="Orphanet:559"}
subset: orphanet_rare {source="Orphanet:559"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Garland-Moorhouse syndrome" EXACT [DOID:0080195]
synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT [DOID:0080195]
synonym: "Marinesco-Garland syndrome" EXACT [DOID:0080195]
synonym: "Marinesco-Sjogren syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:248800]
synonym: "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism" RELATED [GARD:0008341]
synonym: "Marinesco-Sjogren syndrome-myopathy" RELATED [GARD:0008341]
synonym: "Marinesco-Sjogren-Garland syndrome" RELATED [GARD:0008341]
synonym: "Marinesco-Sjögren syndrome" RELATED [Orphanet:559]
synonym: "Marshall Smith Syndrome" EXACT [NORD:1406]
synonym: "MSS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:248800]
synonym: "oligophrenic cerebellolenticular degeneration" EXACT [DOID:0080195]
xref: DOID:0080195 {source="MONDO:equivalentTo"}
xref: GARD:8341 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:559/attributed", source="Orphanet:559/ntbt", source="Orphanet:559"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200485 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1406 {source="MONDO:NORD"}
xref: OMIM:248800 {source="DOID:0080195", source="Orphanet:559", source="MONDO:equivalentTo", source="Orphanet:559/e"}
xref: Orphanet:559 {source="MONDO:equivalentTo", source="OMIM:248800"}
xref: SCTID:80734006 {source="MONDO:equivalentTo"}
xref: UMLS:C0024814 {source="MEDGEN:6222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0006025 {source="DOID:0080195", source="MONDO:indirect"} ! autosomal recessive disease
is_a: MONDO:0020046 {source="Orphanet:559"} ! autosomal recessive degenerative and progressive cerebellar ataxia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:248800", source="Orphanet:559"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24624 {source="MONDO:mim2gene_medgen"} ! SIL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009568
name: mast syndrome
def: "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." [Orphanet:101001]
subset: gard_rare {source="GARD:16939", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101001"}
subset: orphanet_rare {source="Orphanet:101001"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 21" EXACT [DOID:0060245]
synonym: "autosomal recessive spastic paraplegia type 21" EXACT [DOID:0060245]
synonym: "hereditary spastic paraplegia 21" EXACT [DOID:0060245]
synonym: "Mast syndrome" EXACT [Orphanet:101001]
synonym: "mast syndrome" EXACT CLINGEN_LABEL [OMIM:248900]
synonym: "spastic paraplegia 21, autosomal recessive" RELATED [OMIM:248900]
synonym: "SPG21" EXACT ABBREVIATION [DOID:0060245, Orphanet:101001]
xref: DOID:0060245 {source="MONDO:equivalentTo"}
xref: GARD:16939 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:101001", source="DOID:0060245", source="Orphanet:101001/attributed", source="Orphanet:101001/ntbt"}
xref: MEDGEN:343325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565409 {source="MONDO:equivalentTo"}
xref: OMIM:248900 {source="Orphanet:101001", source="DOID:0060245", source="MONDO:equivalentTo", source="Orphanet:101001/e"}
xref: Orphanet:101001 {source="DOID:0060245", source="MONDO:equivalentTo", source="OMIM:248900"}
xref: SCTID:764734003 {source="MONDO:equivalentTo"}
xref: UMLS:C1855346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343325"}
is_a: MONDO:0019064 {source="DOID:0060245", source="MESH:C565409", source="MONDO:Redundant", source="OMIM:248900", source="Orphanet:101001/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20373 {source="MONDO:mim2gene_medgen"} ! SPG21

[Term]
id: MONDO:0009569
name: Hennekam-Beemer syndrome
def: "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." [Orphanet:2135]
subset: gard_rare {source="GARD:3409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2135"}
subset: ordo_malformation_syndrome {source="Orphanet:2135"}
subset: orphanet_rare {source="Orphanet:2135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous mastocytosis, conductive hearing loss and microtia" RELATED [OMIM:248910]
synonym: "Hennekam Beemer syndrome" RELATED [GARD:0003409]
synonym: "mastocytosis cutaneous with short stature conductive hearing loss and microtia" RELATED [GARD:0003409]
synonym: "mastocytosis-short stature-hearing loss syndrome" EXACT [Orphanet:2135]
synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability" RELATED [GARD:0003409]
synonym: "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation" RELATED DEPRECATED [GARD:0003409]
xref: GARD:3409 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:2135", source="MONDO:relatedTo", source="Orphanet:2135/attributed", source="Orphanet:2135/ntbt"}
xref: MEDGEN:462843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536033 {source="MONDO:equivalentTo"}
xref: OMIM:248910 {source="Orphanet:2135", source="MONDO:equivalentTo", source="Orphanet:2135/e", source="GARD:0003409"}
xref: Orphanet:2135 {source="MONDO:equivalentTo", source="OMIM:248910", source="GARD:0003409"}
xref: SCTID:722453009 {source="MONDO:equivalentTo"}
xref: UMLS:C3151493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462843"}
is_a: MONDO:0015160 {source="Orphanet:2135"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:2135", source="Orphanet:2135/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia" xsd:anyURI {source="GARD:0003409"}

[Term]
id: MONDO:0009570
name: McDonough syndrome
def: "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism." [Orphanet:2471]
subset: gard_rare {source="GARD:3424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2471"}
subset: ordo_malformation_syndrome {source="Orphanet:2471"}
subset: orphanet_rare {source="Orphanet:2471"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED [GARD:0003424]
synonym: "McDonough syndrome" EXACT [OMIM:248950]
synonym: "mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED DEPRECATED [GARD:0003424]
xref: GARD:3424 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2471/attributed", source="Orphanet:2471/ntbt", source="Orphanet:2471"}
xref: MEDGEN:162902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538158 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"}
xref: OMIM:248950 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"}
xref: Orphanet:2471 {source="OMIM:248950", source="MONDO:equivalentTo"}
xref: SCTID:715441004 {source="MONDO:equivalentTo"}
xref: UMLS:C0796038 {source="MEDGEN:162902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2471"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2471", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome" xsd:anyURI {source="GARD:0003424"}

[Term]
id: MONDO:0009571
name: Meckel syndrome, type 1
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Dysencephalia splachnocystica" RELATED [MESH:C536133]
synonym: "Dysencephalia Splanchnocystica" RELATED [MESH:C536133, OMIM:249000]
synonym: "Gruber syndrome" RELATED [MESH:C536133, OMIM:249000]
synonym: "Meckel Gruber syndrome" RELATED [MESH:C536133]
synonym: "Meckel syndrome" RELATED [MESH:C536133, OMIM:249000]
synonym: "Meckel syndrome 1" RELATED [DOID:0070115]
synonym: "Meckel syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome type1" RELATED [MESH:C536133]
synonym: "Meckel syndrome, type 1" EXACT [MESH:C536133, MONDO:Lexical, OMIM:249000]
synonym: "Meckel-Gruber syndrome" RELATED [MESH:C536133, OMIM:249000]
synonym: "Meckel-Gruber syndrome, type 1" EXACT [DOID:0070115, MESH:C536133, OMIM:249000]
synonym: "Mes" RELATED [MESH:C536133, OMIM:249000]
synonym: "MKS" RELATED ABBREVIATION [MESH:C536133]
synonym: "MKS1" EXACT ABBREVIATION [DOID:0070115, MESH:C536133, MONDO:Lexical, OMIM:249000]
synonym: "MKS1 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070115 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q61.9 {source="DOID:0070115"}
xref: MEDGEN:811346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536133 {source="MONDO:equivalentTo"}
xref: OMIM:249000 {source="DOID:0070115", source="MONDO:equivalentTo"}
xref: Orphanet:564 {source="OMIM:249000"}
xref: UMLS:C3714506 {source="MEDGEN:811346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018921 {source="DC-OMIM:249000", source="DOID:0070115", source="MONDO:Redundant", source="OMIM:249000"} ! Meckel syndrome
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 ! MKS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 {source="MONDO:mim2gene_medgen"} ! MKS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009572
name: autosomal recessive familial Mediterranean fever
def: "Autosomal recessive form of familial Mediterranean fever." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive familial Mediterranean fever" EXACT CLINGEN_LABEL []
synonym: "familial MEDITERRANEAN FEVER" RELATED [OMIM:249100]
synonym: "familial Mediterranean fever" RELATED [MONDO:Lexical, OMIM:249100]
synonym: "familial Mediterranean fever, AR" EXACT [OMIM:249100, OMIM:genemap2]
synonym: "familial Mediterranean fever, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:249100]
synonym: "FMF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249100]
synonym: "polyserositis, familial paroxysmal" RELATED [OMIM:249100]
synonym: "polyserositis, recurrent" RELATED [OMIM:249100]
xref: NANDO:1200864 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:249100 {source="MONDO:equivalentTo"}
xref: Orphanet:342 {source="OMIM:249100"}
is_a: MONDO:0018088 {source="DC-OMIM:249100", source="MONDO:Entailed", source="MONDO:Redundant"} ! familial Mediterranean fever
intersection_of: MONDO:0018088 ! familial Mediterranean fever
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6998 {source="MONDO:mim2gene_medgen"} ! MEFV
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009573
name: megaepiphyseal dwarfism
synonym: "megaepiphyseal dwarfism" EXACT [OMIM:249230]
xref: MEDGEN:383654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536140 {source="MONDO:equivalentTo"}
xref: OMIM:249230 {source="MONDO:equivalentTo"}
xref: UMLS:C1855310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383654"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism" xsd:anyURI {source="GARD:0003444"}

[Term]
id: MONDO:0009574
name: megalencephaly with dysmyelination
synonym: "megalencephaly with diffuse white matter hypodensity" RELATED [OMIM:249240]
synonym: "megalencephaly with dysmyelination" EXACT [OMIM:249240]
xref: MEDGEN:344470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565408 {source="MONDO:equivalentTo"}
xref: OMIM:249240 {source="MONDO:equivalentTo"}
xref: UMLS:C1855309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344470"}
is_a: MONDO:0003847 {source="MESH:C565408/inferred"} ! hereditary disease

[Term]
id: MONDO:0009575
name: thiamine-responsive megaloblastic anemia syndrome
def: "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." [Orphanet:49827]
subset: gard_rare {source="GARD:9210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:49827"}
subset: orphanet_rare {source="Orphanet:49827"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED OMO:0003005 []
synonym: "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED [GARD:0009210]
synonym: "megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness" RELATED [OMIM:249270]
synonym: "Rogers syndrome" EXACT [DOID:0090117, Orphanet:49827]
synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [DOID:0090117]
synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)" EXACT [DOID:0090117]
synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)" RELATED [OMIM:249270]
synonym: "thiamine responsive megaloblastic anaemia syndrome" RELATED OMO:0003005 []
synonym: "thiamine responsive megaloblastic anemia syndrome" RELATED [GARD:0009210]
synonym: "thiamine-responsive Anaemia syndrome" RELATED OMO:0003005 []
synonym: "thiamine-responsive anaemia syndrome" EXACT OMO:0003005 []
synonym: "thiamine-responsive Anemia syndrome" RELATED [OMIM:249270]
synonym: "thiamine-responsive anemia syndrome" EXACT [DOID:0090117]
synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT OMO:0003005 []
synonym: "thiamine-responsive megaloblastic anemia syndrome" EXACT [MONDO:Lexical, OMIM:249270]
synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT [DOID:0090117, Orphanet:49827]
synonym: "thiamine-responsive myelodysplasia" EXACT [DOID:0090117, OMIM:249270]
synonym: "THMD1" EXACT ABBREVIATION [DOID:0090117]
synonym: "TRMA" EXACT ABBREVIATION [DOID:0090117, MONDO:Lexical, OMIM:249270, Orphanet:49827]
xref: DOID:0090117 {source="MONDO:equivalentTo"}
xref: GARD:9210 {source="MONDO:GARD"}
xref: ICD10CM:Q21.0 {source="Orphanet:49827", source="Orphanet:49827/index", source="DOID:0090117", source="Orphanet:49827/e"}
xref: MEDGEN:83338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536510 {source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="Orphanet:49827/e"}
xref: OMIM:249270 {source="Orphanet:49827", source="MONDO:equivalentTo", source="DOID:0090117", source="Orphanet:49827/e"}
xref: Orphanet:49827 {source="MONDO:equivalentTo", source="OMIM:249270"}
xref: Orphanet:498277 {source="DOID:0090117"}
xref: SCTID:237617006 {source="MONDO:equivalentTo"}
xref: UMLS:C0342287 {source="MONDO:equivalentTo", source="MEDGEN:83338", source="MONDO:MEDGEN"}
is_a: MONDO:0000152 {source="DC-OMIM:249270", source="OMIM:249270"} ! thiamine-responsive dysfunction syndrome
is_a: MONDO:0020112 {source="Orphanet:49827"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia
relationship: disease_responds_to CHEBI:26948 ! vitamin B1
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:49827", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:249270", source="Orphanet:49827"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10938 {source="MONDO:mim2gene_medgen"} ! SLC19A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome" xsd:anyURI {source="GARD:0009210"}

[Term]
id: MONDO:0009576
name: megalocornea
subset: otar {source="MONDO:OTAR"}
synonym: "anterior megalophthalmos" EXACT [DOID:0060305]
synonym: "congenital anterior megalophthalmia" RELATED EXCLUDE [DOID:0060305]
synonym: "megalocornea" EXACT [MONDO:ambiguous]
synonym: "megalocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060305 {source="MONDO:equivalentTo"}
xref: HP:0000485 {source="MONDO:otherHierarchy"}
xref: HP:0007660 {source="MONDO:otherHierarchy", source="DOID:0060305"}
xref: MEDGEN:138008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562829 {source="MONDO:equivalentTo", source="DOID:0060305"}
xref: OMIM:249300 {source="MONDO:equivalentTo", source="DOID:0060305"}
xref: Orphanet:91489 {source="DOID:0060305"}
xref: SCTID:204118005 {source="DOID:0060305"}
xref: SCTID:204119002 {source="DOID:0060305"}
xref: SCTID:268158009 {source="MONDO:equivalentTo", source="DOID:0060305"}
xref: SCTID:388840007 {source="DOID:0060305"}
xref: SCTID:39978004 {source="DOID:0060305"}
xref: UMLS:C0344530 {source="MEDGEN:138008", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="DOID:0060305"} ! corneal disorder
is_a: MONDO:0003847 {source="MESH:C562829/inferred"} ! hereditary disease
property_value: IAO:0000589 "megalocornea (disease)" xsd:string

[Term]
id: MONDO:0009577
name: megalocornea-intellectual disability syndrome
def: "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." [Orphanet:2479]
subset: gard_rare {source="GARD:3448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1424"}
subset: ordo_disorder {source="Orphanet:2479"}
subset: ordo_malformation_syndrome {source="Orphanet:2479"}
subset: orphanet_rare {source="Orphanet:2479"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Megalocornea Intellectual Disability Syndrome" EXACT [NORD:1424]
synonym: "megalocornea intellectual disability syndrome" RELATED [GARD:0003448]
synonym: "megalocornea mental retardation syndrome" RELATED DEPRECATED [GARD:0003448]
synonym: "megalocornea-intellectual disability syndrome" EXACT [OMIM:249310]
synonym: "megalocornea-mental retardation syndrome" RELATED DEPRECATED [OMIM:249310]
synonym: "MMR syndrome" EXACT [OMIM:249310, Orphanet:2479]
synonym: "Neuhauser syndrome" RELATED [OMIM:249310]
synonym: "NeuhC$user syndrome" EXACT [Orphanet:2479]
synonym: "Neuhäuser syndrome" EXACT [Orphanet:2479]
xref: GARD:3448 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2479", source="Orphanet:2479/attributed", source="Orphanet:2479/ntbt"}
xref: MEDGEN:162904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536143 {source="MONDO:equivalentTo"}
xref: NORD:1424 {source="MONDO:NORD"}
xref: OMIM:249310 {source="MONDO:equivalentTo", source="Orphanet:2479", source="Orphanet:2479/e"}
xref: Orphanet:2479 {source="OMIM:249310", source="MONDO:equivalentTo"}
xref: SCTID:733522005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796086 {source="MEDGEN:162904", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2479", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome" xsd:anyURI {source="GARD:0003448"}

[Term]
id: MONDO:0009578
name: neurocutaneous melanocytosis
def: "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." [Orphanet:2481]
subset: gard_rare {source="GARD:7186", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2481"}
subset: orphanet_rare {source="Orphanet:2481"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "melanosis, neurocutaneous" RELATED [MONDO:Lexical, OMIM:249400]
synonym: "NCM" EXACT ABBREVIATION [Orphanet:2481]
synonym: "NCMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249400]
synonym: "neurocutaneous melanosis" EXACT [Orphanet:2481]
synonym: "neurocutaneous melanosis syndrome" RELATED [GARD:0007186]
synonym: "neurocutaneous melanosis, somatic" EXACT [OMIM:249400, OMIM:genemap2]
synonym: "Neuromelanosis" RELATED [OMIM:249400]
xref: GARD:7186 {source="MONDO:GARD"}
xref: ICD10CM:D22.3 {source="Orphanet:2481/btnt", source="Orphanet:2481"}
xref: ICD10CM:D22.4 {source="Orphanet:2481/btnt", source="Orphanet:2481"}
xref: ICD10CM:D22.5 {source="Orphanet:2481/btnt", source="Orphanet:2481"}
xref: ICD10CM:D22.6 {source="Orphanet:2481/btnt", source="Orphanet:2481"}
xref: ICD10CM:D22.7 {source="Orphanet:2481/btnt", source="Orphanet:2481"}
xref: MEDGEN:154259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537387 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"}
xref: NANDO:2200827 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:249400 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"}
xref: Orphanet:2481 {source="OMIM:249400", source="MONDO:equivalentTo"}
xref: UMLS:C0544862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154259"}
is_a: MONDO:0005073 {source="Orphanet:2481"} ! melanocytic nevus
is_a: MONDO:0042983 {source="MESH:C537387", source="https://orcid.org/0000-0002-6601-2165"} ! neurocutaneous syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 {source="MONDO:mim2gene_medgen"} ! NRAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009579
name: Frank-Ter Haar syndrome
def: "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." [https://orcid.org/0000-0001-5208-3432, Orphanet:137834]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137834"}
subset: orphanet_rare {source="Orphanet:137834"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive Melnick-Needles syndrome (formerly)" RELATED [GARD:0005138]
synonym: "Borrone Dermatocardioskeletal syndrome" EXACT [OMIM:249420]
synonym: "Borrone dermatocardioskeletal syndrome" RELATED [GARD:0000939, MESH:C536577]
synonym: "Borrone di Rocco Crovato syndrome" EXACT [MONDO:0022018]
synonym: "Frank Ter Haar syndrome" RELATED [GARD:0005138]
synonym: "FRANK-TER Haar syndrome" RELATED [OMIM:249420]
synonym: "Frank-Ter Haar syndrome" EXACT [MONDO:Lexical, OMIM:249420]
synonym: "FTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249420]
synonym: "megalocornea, multiple skeletal anomalies, and developmental delay" RELATED [GARD:0005138]
synonym: "Melnick-Needles syndrome, autosomal recessive" RELATED [OMIM:249420]
synonym: "Melnick-Needles syndrome, autosomal recessive, formerly" RELATED [OMIM:249420]
synonym: "Ter Haar syndrome" EXACT [GARD:0005138, OMIM:249420, Orphanet:137834]
xref: DOID:0111789 {source="MONDO:equivalentTo"}
xref: GARD:5138 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:137834", source="Orphanet:137834/attributed", source="Orphanet:137834/ntbt"}
xref: MEDGEN:383652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536577 {source="MONDO:equivalentTo"}
xref: MESH:C537274 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:211170 {source="GARD:0000939", source="MONDO:equivalentObsolete"}
xref: OMIM:249420 {source="GARD:0005138", source="MONDO:equivalentTo", source="Orphanet:137834", source="Orphanet:137834/e"}
xref: Orphanet:137834 {source="GARD:0005138", source="OMIM:249420", source="MONDO:equivalentTo"}
xref: SCTID:720958002 {source="MONDO:equivalentTo"}
xref: UMLS:C1855305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383652"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder
relationship: excluded_subClassOf MONDO:0005093 {source="MESH:C536577", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0005381 {source="MESH:C536577", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder
relationship: excluded_subClassOf MONDO:0006816 {source="MESH:C536577", source="https://orcid.org/0000-0001-5208-3432"} ! arthropathy
relationship: excluded_subClassOf MONDO:0018233 {source="Orphanet:137834", source="https://orcid.org/0000-0001-5208-3432"} ! otopalatodigital syndrome spectrum disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29242 {source="MONDO:mim2gene_medgen"} ! SH3PXD2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5000" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5001" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome" xsd:anyURI {source="GARD:0005138"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome" xsd:anyURI {source="GARD:0000939"}

[Term]
id: MONDO:0009580
name: intellectual disability, autosomal recessive 1
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22537", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:249500]
synonym: "intellectual disability, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:249500]
synonym: "mental retardation, autosomal recessive 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:249500]
synonym: "mental retardation, autosomal recessive type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:249500]
synonym: "MRT1" RELATED DEPRECATED [MONDO:Lexical, OMIM:249500]
synonym: "PRSS12 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081177 {source="MONDO:equivalentTo"}
xref: GARD:22537 {source="MONDO:GARD"}
xref: MEDGEN:344468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565406 {source="MONDO:equivalentTo"}
xref: OMIM:249500 {source="MONDO:equivalentTo"}
xref: UMLS:C1855304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344468"}
is_a: MONDO:0019502 {source="DC-OMIM:249500", source="MONDO:Redundant", source="OMIM:249500"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9477 ! PRSS12
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9477 {source="MONDO:mim2gene_medgen"} ! PRSS12

[Term]
id: MONDO:0009581
name: intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
def: "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." [Orphanet:3044]
subset: gard_rare {source="GARD:9811", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3044"}
subset: ordo_malformation_syndrome {source="Orphanet:3044"}
subset: orphanet_rare {source="Orphanet:3044"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Belgian type intellectual disability syndrome" RELATED [GARD:0009811]
synonym: "Belgian type mental retardation syndrome" RELATED DEPRECATED [GARD:0009811]
synonym: "intellectual disability syndrome, Belgian type" RELATED [OMIM:249599]
synonym: "mental retardation syndrome, Belgian type" RELATED DEPRECATED [OMIM:249599]
xref: GARD:9811 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3044/attributed", source="Orphanet:3044/ntbt", source="Orphanet:3044"}
xref: MEDGEN:343317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537447 {source="MONDO:equivalentTo"}
xref: OMIM:249599 {source="Orphanet:3044/e", source="MONDO:equivalentTo", source="Orphanet:3044"}
xref: Orphanet:3044 {source="OMIM:249599", source="MONDO:equivalentTo"}
xref: SCTID:722454003 {source="MONDO:equivalentTo"}
xref: UMLS:C1855303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343317"}
is_a: MONDO:0015159 {source="Orphanet:3044"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3044", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome" xsd:anyURI {source="GARD:0009811"}

[Term]
id: MONDO:0009582
name: Mietens syndrome
def: "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." [Orphanet:2557]
subset: gard_rare {source="GARD:3524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2557"}
subset: ordo_malformation_syndrome {source="Orphanet:2557"}
subset: orphanet_rare {source="Orphanet:2557"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability" RELATED [GARD:0003524]
synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation" RELATED DEPRECATED [GARD:0003524]
synonym: "intellectual disability syndrome, Mietens Weber type" RELATED [GARD:0003524]
synonym: "intellectual disability syndrome, Mietens-WEBER type" RELATED [OMIM:249600]
synonym: "intellectual disability, Mietens-Weber type" EXACT [Orphanet:2557]
synonym: "mental retardation syndrome, Mietens Weber type" RELATED DEPRECATED [GARD:0003524]
synonym: "mental retardation syndrome, Mietens-WEBER type" RELATED DEPRECATED [OMIM:249600]
synonym: "Mietens-Weber syndrome" RELATED [OMIM:249600]
xref: GARD:3524 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2557", source="Orphanet:2557/attributed", source="Orphanet:2557/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537444 {source="MONDO:equivalentTo"}
xref: OMIM:249600 {source="MONDO:equivalentTo", source="Orphanet:2557", source="Orphanet:2557/e"}
xref: Orphanet:2557 {source="MONDO:equivalentTo", source="OMIM:249600"}
xref: SCTID:40291001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265249 {source="MEDGEN:82695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:2557"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2557", source="Orphanet:2557/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009583
name: blepharophimosis - intellectual disability syndrome, Ohdo type
def: "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." [Orphanet:2728]
subset: gard_rare {source="GARD:3348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2728"}
subset: ordo_malformation_syndrome {source="Orphanet:2728"}
subset: orphanet_rare {source="Orphanet:2728"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis syndrome, Ohdo type" EXACT [Orphanet:2728]
synonym: "BMRS, Ohdo type" EXACT [Orphanet:2728]
synonym: "intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED [OMIM:249620]
synonym: "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED DEPRECATED [OMIM:249620]
synonym: "Ohdo blepharophimosis syndrome" RELATED [OMIM:249620]
synonym: "Ohdo syndrome" EXACT [OMIM:249620, Orphanet:2728]
synonym: "Ohdo-Madokoro-Sonoda syndrome" EXACT [Orphanet:2728]
xref: GARD:3348 {source="MONDO:GARD"}
xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:525.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:162905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:249620 {source="Orphanet:2728/e", source="MONDO:equivalentTo", source="Orphanet:2728"}
xref: Orphanet:2728 {source="OMIM:249620", source="MONDO:equivalentTo"}
xref: SCTID:412787009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796094 {source="MONDO:equivalentTo", source="MEDGEN:162905", source="MONDO:MEDGEN"}
is_a: MONDO:0000734 {source="DC-OMIM:249620"} ! Ohdo syndrome and variants

[Term]
id: MONDO:0009584
name: intellectual disability, Buenos-Aires type
def: "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." [Orphanet:3079]
subset: gard_rare {source="GARD:3485", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3079"}
subset: ordo_malformation_syndrome {source="Orphanet:3079"}
subset: orphanet_rare {source="Orphanet:3079"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual deficit Buenos-Aires type" RELATED [GARD:0003485]
synonym: "intellectual disability Buenos Aires type" RELATED [GARD:0003485]
synonym: "intellectual disability, Buenos Aires type" RELATED [OMIM:249630]
synonym: "mental retardation Buenos Aires type" RELATED DEPRECATED [GARD:0003485]
synonym: "mental retardation, Buenos Aires type" RELATED DEPRECATED [OMIM:249630]
synonym: "Mutchinick syndrome" EXACT [GARD:0003485, OMIM:249630, Orphanet:3079]
xref: GARD:3485 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3079", source="Orphanet:3079/attributed", source="Orphanet:3079/ntbt"}
xref: MEDGEN:167102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563095 {source="MONDO:equivalentTo"}
xref: OMIM:249630 {source="Orphanet:3079", source="MONDO:equivalentTo", source="Orphanet:3079/e", source="GARD:0003485"}
xref: Orphanet:3079 {source="OMIM:249630", source="MONDO:equivalentTo", source="GARD:0003485"}
xref: SCTID:725906006 {source="MONDO:equivalentTo"}
xref: UMLS:C0796080 {source="MONDO:equivalentTo", source="MEDGEN:167102", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3079", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:3079"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type" xsd:anyURI {source="GARD:0003485"}

[Term]
id: MONDO:0009585
name: encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1035"}
subset: orphanet_rare {source="Orphanet:1035"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-mercaptopyruvate sulfurtransferase deficiency" EXACT [Orphanet:1035]
synonym: "Ampola syndrome" EXACT [Orphanet:1035]
synonym: "Beta-mercaptolactate cysteine disulfiduria" RELATED [GARD:0000654, Orphanet:1035]
synonym: "disulfiduria, mixed" RELATED [OMIM:249650]
synonym: "MCDU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249650]
synonym: "mercaptolactate-cysteine disulfiduria" RELATED [MONDO:Lexical, OMIM:249650]
xref: GARD:654 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:1035", source="Orphanet:1035/attributed", source="Orphanet:1035/ntbt"}
xref: MEDGEN:208661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563085 {source="MONDO:equivalentTo"}
xref: OMIM:249650 {source="Orphanet:1035", source="MONDO:equivalentTo", source="Orphanet:1035/e"}
xref: Orphanet:1035 {source="OMIM:249650", source="MONDO:equivalentTo"}
xref: UMLS:C0796055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208661"}
is_a: MONDO:0024237 {source="Orphanet:1035"} ! inherited neurodegenerative disorder

[Term]
id: MONDO:0009586
name: obsolete mesangial sclerosis, diffuse renal, with ocular abnormalities
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7329" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013621

[Term]
id: MONDO:0009587
name: mesoaxial hexadactyly and cardiac malformation
synonym: "mesoaxial hexadactyly and cardiac malformation" EXACT [OMIM:249670]
synonym: "Mexican Cardiomelic dysplasia" RELATED [OMIM:249670]
xref: MEDGEN:167099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563087 {source="MONDO:equivalentTo"}
xref: OMIM:249670 {source="MONDO:equivalentTo"}
xref: UMLS:C0796057 {source="MEDGEN:167099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009588
name: Langer mesomelic dysplasia
def: "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." [Orphanet:2632]
subset: gard_rare {source="GARD:3553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2632"}
subset: ordo_malformation_syndrome {source="Orphanet:2632"}
subset: orphanet_rare {source="Orphanet:2632"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dyschondrosteosis, homozygous" RELATED [OMIM:249700]
synonym: "Langer mesomelic dysplasia" EXACT [MONDO:Lexical, OMIM:249700]
synonym: "langer mesomelic dysplasia, pseudoautosomal recessive" EXACT [OMIM:249700, OMIM:genemap2]
synonym: "Langer syndrome" EXACT [NCIT:C126876]
synonym: "Langer type mesomelic dysplasia" EXACT [NCIT:C126876]
synonym: "LMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249700]
synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type" RELATED [GARD:0003553]
synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" RELATED [OMIM:249700]
synonym: "mesomelic dwarfism, Langer type" EXACT [Orphanet:2632]
xref: GARD:3553 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2632/attributed", source="Orphanet:2632/ntbt", source="Orphanet:2632"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537267 {source="Orphanet:2632", source="MONDO:equivalentTo", source="Orphanet:2632/e"}
xref: NCIT:C126876 {source="MONDO:equivalentTo"}
xref: OMIM:249700 {source="Orphanet:2632", source="MONDO:equivalentTo", source="Orphanet:2632/e"}
xref: Orphanet:2632 {source="MONDO:equivalentTo", source="OMIM:249700"}
xref: SCTID:38494008 {source="MONDO:equivalentTo"}
xref: UMLS:C0432230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96585"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:23863349", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0023599 {source="PMID:23863349", source="https://orcid.org/0009-0001-6494-4831"} ! mesomelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia" xsd:anyURI {source="GARD:0003553"}

[Term]
id: MONDO:0009589
name: mesomelic dwarfism-cleft palate-camptodactyly syndrome
def: "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." [Orphanet:2631]
subset: gard_rare {source="GARD:3552", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2631"}
subset: ordo_malformation_syndrome {source="Orphanet:2631"}
subset: orphanet_rare {source="Orphanet:2631"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mesomelic dwarfism cleft palate camptodactyly" RELATED [GARD:0003552]
synonym: "mesomelic dysplasia, Kozlowski-Reardon type" EXACT [Orphanet:2631]
synonym: "mesomelic dysplasia, Reardon type" EXACT [Orphanet:2631]
synonym: "mesomelic limb shortening and bowing" RELATED [GARD:0003552, OMIM:249710]
synonym: "Reardon-Hall-Slaney syndrome" EXACT [GARD:0003552, Orphanet:2631]
xref: GARD:3552 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:2631/attributed", source="Orphanet:2631/ntbt", source="Orphanet:2631"}
xref: MEDGEN:340833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565404 {source="MONDO:equivalentTo"}
xref: OMIM:249710 {source="GARD:0003552", source="Orphanet:2631", source="MONDO:equivalentTo", source="Orphanet:2631/e"}
xref: Orphanet:2631 {source="GARD:0003552", source="MONDO:equivalentTo", source="OMIM:249710"}
xref: SCTID:715471007 {source="MONDO:equivalentTo"}
xref: UMLS:C1855273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340833"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015161 {source="Orphanet:2631"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly" xsd:anyURI {source="GARD:0003552"}

[Term]
id: MONDO:0009590
name: metachromatic leukodystrophy due to saposin B deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency" RELATED [OMIM:249900]
synonym: "metachromatic leukodystrophy due to sap-B deficiency" EXACT [OMIM:249900, OMIM:genemap2]
synonym: "metachromatic leukodystrophy due to saposin b deficiency" EXACT [OMIM:249900]
synonym: "saposin B deficiency" RELATED [OMIM:249900]
xref: GARD:10674 {source="MONDO:GARD"}
xref: MEDGEN:120624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562609 {source="MONDO:equivalentTo"}
xref: NANDO:1200082 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201205 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:249900 {source="MONDO:equivalentTo"}
xref: Orphanet:512 {source="OMIM:249900"}
xref: SCTID:68390005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120624"}
is_a: MONDO:0018868 {source="DC-OMIM:249900", source="MESH:C562609"} ! metachromatic leukodystrophy
is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 {source="MONDO:mim2gene_medgen"} ! PSAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency" xsd:anyURI {source="GARD:0010674"}

[Term]
id: MONDO:0009591
name: metachromatic leukodystrophy, juvenile form
def: "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes." [GARD:0003230]
subset: gard_rare {source="GARD:21329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309263"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARSA deficiency" RELATED [GARD:0003230, OMIM:250100]
synonym: "arylsulfatase A deficiency" RELATED [GARD:0003230, OMIM:250100]
synonym: "arylsulfatase A deficiency, juvenile form" EXACT [Orphanet:309263]
synonym: "cerebral sclerosis diffuse metachromatic form" RELATED [GARD:0003230]
synonym: "cerebral sclerosis, diffuse, metachromatic form" RELATED [OMIM:250100]
synonym: "cerebroside sulfatase deficiency" RELATED [GARD:0003230, OMIM:250100]
synonym: "leukodystrophy metachromatic" RELATED [GARD:0003230]
synonym: "metachromatic leukodystrophy" RELATED [OMIM:250100]
synonym: "metachromatic leukodystrophy, adult" RELATED [OMIM:250100]
synonym: "metachromatic leukodystrophy, juvenile" RELATED [OMIM:250100]
synonym: "metachromatic leukodystrophy, juvenile form" EXACT CLINGEN_LABEL []
synonym: "metachromatic leukodystrophy, late infantile" RELATED [OMIM:250100]
synonym: "metachromatic leukoencephalopathy" RELATED [GARD:0003230, OMIM:250100]
synonym: "MLD" RELATED ABBREVIATION [GARD:0003230, OMIM:250100]
synonym: "Mld" RELATED [OMIM:250100]
synonym: "MLD, juvenile form" EXACT [Orphanet:309263]
synonym: "pseudoarylsulfatase A deficiency" RELATED [OMIM:250100]
synonym: "sulfatide lipidosis" RELATED [GARD:0003230, OMIM:250100]
xref: GARD:21329 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:309263/attributed", source="Orphanet:309263/ntbt", source="Orphanet:309263"}
xref: MEDGEN:155528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200080 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201203 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:250100 {source="MONDO:equivalentTo", source="GARD:0003230"}
xref: Orphanet:309263 {source="MONDO:equivalentTo"}
xref: Orphanet:512 {source="OMIM:250100", source="GARD:0003230"}
xref: Orphanet:751 {source="OMIM:250100"}
xref: SCTID:238031009 {source="MONDO:equivalentTo"}
xref: UMLS:C0751276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155528"}
is_a: MONDO:0018868 {source="DC-OMIM:250100", source="Orphanet:309263"} ! metachromatic leukodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/713 {source="MONDO:mim2gene_medgen"} ! ARSA

[Term]
id: MONDO:0009592
name: metaphyseal acroscyphodysplasia
def: "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." [Orphanet:1240]
subset: gard_rare {source="GARD:3519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bellini Chiumello Rimoldi syndrome" RELATED [GARD:0003519]
synonym: "Bellini syndrome" EXACT [Orphanet:1240]
synonym: "cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly" RELATED [OMIM:250215]
synonym: "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome" EXACT [Orphanet:1240]
synonym: "metaphyseal acroscyphodysplasia" EXACT [OMIM:250215]
synonym: "wedge-Shaped epiphyses of knees" RELATED [OMIM:250215]
synonym: "wedge-shaped epiphyses of knees" RELATED [GARD:0003519]
synonym: "wedge-shaped epiphyses of the knees with intellectual disability and short stature" RELATED [GARD:0003519]
synonym: "wedge-shaped epiphyses of the knees with mental retardation and short stature" RELATED DEPRECATED [GARD:0003519]
xref: GARD:3519 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:1240/attributed", source="Orphanet:1240/ntbt", source="Orphanet:1240"}
xref: MEDGEN:344453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537350 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"}
xref: OMIM:250215 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"}
xref: Orphanet:1240 {source="OMIM:250215", source="MONDO:equivalentTo"}
xref: UMLS:C1855243 {source="MEDGEN:344453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:1860252", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia" xsd:anyURI {source="GARD:0003519"}

[Term]
id: MONDO:0009593
name: spondylometaphyseal dysplasia, Sedaghatian type
def: "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly." [Orphanet:93317]
subset: gard_rare {source="GARD:4993", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93317"}
subset: ordo_malformation_syndrome {source="Orphanet:93317"}
subset: orphanet_rare {source="Orphanet:93317"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lethal metaphyseal dysplasia" RELATED [GARD:0004993]
synonym: "metaphyseal chondrodysplasia, congenital lethal" RELATED [OMIM:250220]
synonym: "Sedaghatian chondrodysplasia" RELATED [OMIM:250220]
synonym: "SMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250220]
synonym: "spondylometaphyseal dysplasia Sedaghatian type" RELATED [GARD:0004993]
synonym: "spondylometaphyseal dysplasia, Sedaghatian type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:250220]
xref: DOID:0112298 {source="MONDO:equivalentTo"}
xref: GARD:4993 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:93317", source="Orphanet:93317/attributed", source="Orphanet:93317/ntbt"}
xref: MEDGEN:340816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535798 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"}
xref: OMIM:250220 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"}
xref: Orphanet:93317 {source="MONDO:equivalentTo", source="OMIM:250220"}
xref: UMLS:C1855229 {source="MEDGEN:340816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="DC-OMIM:250220"} ! spondylometaphyseal dysplasia
is_a: MONDO:0019694 {source="Orphanet:93317"} ! spondylodysplastic dysplasia
is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease
is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia
intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4556 ! GPX4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4556 {source="MONDO:mim2gene_medgen"} ! GPX4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type" xsd:anyURI {source="GARD:0004993"}

[Term]
id: MONDO:0009594
name: metaphyseal chondrodysplasia, Kaitila type
def: "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." [Orphanet:166038]
subset: gard_rare {source="GARD:17018", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166038"}
subset: orphanet_rare {source="Orphanet:166038"}
subset: rare
synonym: "metaphyseal chondrodysplasia, Kaitila type" EXACT [OMIM:250230]
xref: GARD:17018 {source="MONDO:GARD"}
xref: MEDGEN:344446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565400 {source="MONDO:equivalentTo"}
xref: OMIM:250230 {source="MONDO:equivalentTo", source="Orphanet:166038", source="Orphanet:166038/e"}
xref: Orphanet:166038 {source="MONDO:equivalentTo", source="OMIM:250230"}
xref: UMLS:C1855217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344446"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="PMID:6979929", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="PMID:6979929", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:250230", source="https://orcid.org/0000-0001-5208-3432"} ! metaphyseal chondrodysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009595
name: cartilage-hair hypoplasia
def: "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." [Orphanet:175]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6996", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1414"}
subset: ordo_disorder {source="Orphanet:175"}
subset: orphanet_rare {source="Orphanet:175"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive metaphyseal chondrodysplasia" EXACT [Orphanet:175]
synonym: "cartilage hair hypoplasia" EXACT [NCIT:C61245]
synonym: "cartilage hair hypoplasia like syndrome" RELATED [GARD:0006996]
synonym: "cartilage-hair hypoplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:250250]
synonym: "CHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250250]
synonym: "McKusick Type Metaphyseal Chondrodysplasia" EXACT [NORD:1414]
synonym: "McKusick type metaphyseal chondrodysplasia" EXACT [DOID:14773]
synonym: "metaphyseal chondrodysplasia McKusick type" RELATED [GARD:0006996]
synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT [DOID:14773, Orphanet:175]
synonym: "metaphyseal chondrodysplasia, Mckusick type" RELATED [OMIM:250250]
xref: DOID:14773 {source="MONDO:equivalentTo"}
xref: GARD:6996 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:175", source="Orphanet:175/attributed", source="Orphanet:175/ntbt"}
xref: MedDRA:10069596 {source="Orphanet:175/e", source="Orphanet:175"}
xref: MEDGEN:67398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535916 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="DOID:14773", source="Orphanet:175"}
xref: NCIT:C61245 {source="MONDO:equivalentTo", source="DOID:14773"}
xref: NORD:1414 {source="MONDO:NORD"}
xref: OMIM:250250 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="DOID:14773", source="Orphanet:175"}
xref: Orphanet:175 {source="MONDO:equivalentTo", source="OMIM:250250"}
xref: SCTID:234421004 {source="DOID:14773"}
xref: SCTID:7720002 {source="MONDO:equivalentTo", source="DOID:14773"}
xref: UMLS:C0220748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67398"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61245"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0006025 {source="DOID:14773", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015708 {source="Orphanet:175"} ! immuno-osseous dysplasia
is_a: MONDO:0019287 {source="Orphanet:175"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:250250", source="Orphanet:175"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10031 {source="MONDO:mim2gene_medgen"} ! RMRP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia" xsd:anyURI {source="GARD:0006996"}

[Term]
id: MONDO:0009596
name: metaphyseal chondrodysplasia, Pena type
synonym: "metaphyseal chondrodysplasia, Pena type" EXACT [OMIM:250300]
xref: MEDGEN:343289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565399 {source="MONDO:equivalentTo"}
xref: OMIM:250300 {source="MONDO:equivalentTo"}
xref: UMLS:C1855195 {source="MONDO:equivalentTo", source="MEDGEN:343289", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565399/inferred"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:250300", source="https://orcid.org/0000-0001-5208-3432"} ! metaphyseal chondrodysplasia

[Term]
id: MONDO:0009597
name: metaphyseal chondrodysplasia, Spahr type
subset: gard_rare {source="GARD:3563", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2501"}
subset: orphanet_rare {source="Orphanet:2501"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDST" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250400]
synonym: "metaphyseal chondrodysplasia Spahr type" RELATED [GARD:0003563]
synonym: "metaphyseal chondrodysplasia, Spahr type" EXACT [OMIM:250400]
synonym: "metaphyseal dysplasia, Spahr type" RELATED [MONDO:Lexical, OMIM:250400]
synonym: "Spahr type metaphyseal chondrodysplasia" RELATED [GARD:0003563]
xref: GARD:3563 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:2501", source="Orphanet:2501/attributed", source="Orphanet:2501/ntbt"}
xref: MEDGEN:140928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537353 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"}
xref: OMIM:250400 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"}
xref: Orphanet:2501 {source="MONDO:equivalentTo", source="OMIM:250400"}
xref: SCTID:254084008 {source="MONDO:equivalentTo"}
xref: UMLS:C0432225 {source="MEDGEN:140928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="PMID:31413057", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="PMID:31413057", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0000138 {source="DC-OMIM:250400", source="https://orcid.org/0000-0001-5208-3432"} ! metaphyseal chondrodysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7159 {source="MONDO:mim2gene_medgen"} ! MMP13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009598
name: metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
subset: gard_rare {source="GARD:17017", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166035"}
subset: orphanet_rare {source="Orphanet:166035"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly-short stature-retinitis pigmentosa syndrome" RELATED [Orphanet:166035]
synonym: "metaphyseal chondrodysplasia with retinitis pigmentosa" RELATED [OMIM:250410]
synonym: "retinitis pigmentosa with or without skeletal anomalies" RELATED [OMIM:250410]
synonym: "RPSKA" RELATED ABBREVIATION [OMIM:250410]
xref: GARD:17017 {source="MONDO:GARD"}
xref: MEDGEN:381579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565398 {source="MONDO:equivalentTo"}
xref: OMIM:250410 {source="Orphanet:166035", source="MONDO:equivalentTo", source="Orphanet:166035/e"}
xref: Orphanet:166035 {source="MONDO:equivalentTo", source="OMIM:250410"}
xref: UMLS:C1855188 {source="MEDGEN:381579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="PMID:7252997", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="PMID:7252997", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10664 {source="MONDO:mim2gene_medgen"} ! CWC27
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009599
name: metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
def: "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." [Orphanet:2502]
subset: gard_rare {source="GARD:3566", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2502"}
subset: ordo_malformation_syndrome {source="Orphanet:2502"}
subset: orphanet_rare {source="Orphanet:2502"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "metaphyseal dysostosis intellectual disability conductive deafness" RELATED [GARD:0003566]
synonym: "metaphyseal dysostosis mental retardation conductive deafness" RELATED DEPRECATED [GARD:0003566]
synonym: "metaphyseal dysostosis, conductive hearing loss and intellectual disability" RELATED [GARD:0003566]
synonym: "metaphyseal dysostosis, conductive hearing loss and mental retardation" RELATED DEPRECATED [GARD:0003566]
synonym: "metaphyseal dysostosis, intellectual disability, and conductive deafness" RELATED [OMIM:250420]
synonym: "metaphyseal dysostosis, mental retardation, and conductive deafness" RELATED DEPRECATED [OMIM:250420]
xref: GARD:3566 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:2502", source="Orphanet:2502/attributed", source="Orphanet:2502/ntbt"}
xref: MEDGEN:344437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565396 {source="MONDO:equivalentTo"}
xref: OMIM:250420 {source="GARD:0003566", source="MONDO:equivalentTo", source="Orphanet:2502", source="Orphanet:2502/e"}
xref: Orphanet:2502 {source="GARD:0003566", source="MONDO:equivalentTo", source="OMIM:250420"}
xref: UMLS:C1855175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344437"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:5173335", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2502", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness" xsd:anyURI {source="GARD:0003566"}

[Term]
id: MONDO:0009600
name: metaphyseal dysplasia, anetoderma, and optic atrophy
synonym: "metaphyseal dysplasia, anetoderma, and optic atrophy" EXACT [OMIM:250450]
xref: MEDGEN:381576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565395 {source="MONDO:equivalentTo"}
xref: OMIM:250450 {source="MONDO:equivalentTo"}
xref: UMLS:C1855174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381576"}
is_a: MONDO:0003847 {source="MESH:C565395/inferred"} ! hereditary disease

[Term]
id: MONDO:0009601
name: metaphyseal dysplasia without hypotrichosis
subset: gard_rare {source="GARD:10622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cartilage-hair hypoplasia variant, skeletal manifestations only" RELATED [OMIM:250460]
synonym: "cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency" RELATED [OMIM:250460]
synonym: "CHHV" RELATED ABBREVIATION [GARD:0010622]
synonym: "MDWH" RELATED ABBREVIATION [OMIM:250460]
synonym: "metaphyseal dysplasia without hypotrichosis" EXACT [OMIM:250460]
xref: GARD:10622 {source="MONDO:GARD"}
xref: MEDGEN:320444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563574 {source="MONDO:equivalentTo"}
xref: OMIM:250460 {source="MONDO:equivalentTo"}
xref: Orphanet:1838 {source="MONDO:equivalentObsolete", source="OMIM:250460"}
xref: UMLS:C1834821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320444"}
is_a: MONDO:0009595 ! cartilage-hair hypoplasia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:250460"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10031 {source="MONDO:mim2gene_medgen"} ! RMRP
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis" xsd:anyURI {source="GARD:0010622"}

[Term]
id: MONDO:0009602
name: metaphyseal modeling abnormality, skin lesions, and spastic paraplegia
synonym: "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" EXACT [GARD:0000217, OMIM:250500]
synonym: "Roy Maroteaux Kremp syndrome" RELATED [GARD:0000217]
xref: MEDGEN:343282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535875 {source="MONDO:equivalentTo"}
xref: OMIM:250500 {source="MONDO:equivalentTo", source="GARD:0000217"}
xref: UMLS:C1855164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343282"}
is_a: MONDO:0003847 {source="MESH:C535875/inferred"} ! hereditary disease

[Term]
id: MONDO:0009603
name: 3-hydroxyisobutyryl-CoA hydrolase deficiency
def: "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." [Orphanet:88639]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13202", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88639"}
subset: orphanet_rare {source="Orphanet:88639"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-hydroxyisobutryl-CoA hydrolase deficiency" EXACT [OMIM:250620, OMIM:genemap2]
synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:250620]
synonym: "beta-hydroxyisobutyryl Coa deacylase deficiency" RELATED [OMIM:250620]
synonym: "Beta-hydroxyisobutyryl-CoA deacylase deficiency" RELATED [GARD:0013202]
synonym: "HIBCH deficiency" EXACT [OMIM:250620, Orphanet:88639]
synonym: "HIBCHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250620]
synonym: "methacrylic acid toxicity" RELATED [OMIM:250620]
synonym: "methacrylic aciduria" EXACT [OMIM:250620, Orphanet:88639]
synonym: "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "valine metabolic defect" RELATED [OMIM:250620, Orphanet:88639]
xref: DOID:0060949 {source="MONDO:equivalentTo"}
xref: GARD:13202 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:88639", source="Orphanet:88639/attributed", source="Orphanet:88639/ntbt"}
xref: MEDGEN:83349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562803 {source="MONDO:equivalentTo"}
xref: OMIM:250620 {source="MONDO:equivalentTo", source="Orphanet:88639", source="Orphanet:88639/e"}
xref: Orphanet:88639 {source="MONDO:equivalentTo", source="OMIM:250620"}
xref: SCTID:722488009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342738 {source="MONDO:equivalentTo", source="MEDGEN:83349", source="MONDO:MEDGEN"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0019215 {source="Orphanet:88639"} ! classic organic aciduria
relationship: disease_has_basis_in_disruption_of GO:0006573 ! valine metabolic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4908 {source="MONDO:mim2gene_medgen"} ! HIBCH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009604
name: methemoglobin reductase deficiency
subset: gard_rare {source="GARD:3909", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "methemoglobin reductase deficiency" EXACT [OMIM:250700]
synonym: "NADPH-dependent methemoglobin reductase deficiency" RELATED [OMIM:250700]
synonym: "TPNH-methemoglobin reductase deficiency" RELATED [OMIM:250700]
xref: GARD:3909 {source="MONDO:GARD"}
xref: MEDGEN:501116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563171 {source="MONDO:equivalentTo"}
xref: OMIM:250700 {source="MONDO:equivalentTo"}
xref: Orphanet:621 {source="OMIM:250700"}
xref: SCTID:234397008 {source="MONDO:equivalentTo"}
xref: UMLS:C0472786 {source="MEDGEN:501116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018963 {source="Orphanet:621/btnt"} ! hereditary methemoglobinemia

[Term]
id: MONDO:0009605
name: methemoglobinemia type 4
def: "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CYB5A methemoglobinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated 17,20-lyase deficiency, Pure" RELATED [OMIM:250790]
synonym: "METAG" RELATED ABBREVIATION [OMIM:250790]
synonym: "methemoglobinemia and ambiguous genitalia" RELATED [OMIM:250790]
synonym: "methemoglobinemia caused by mutation in CYB5A" EXACT [MONDO:design_pattern]
synonym: "methemoglobinemia due to deficiency of cytochrome B5" RELATED [OMIM:250790]
synonym: "methemoglobinemia due to deficiency of cytochrome B5, formerly" RELATED [OMIM:250790]
synonym: "methemoglobinemia type 4" EXACT CLINGEN_LABEL []
synonym: "methemoglobinemia type IV" RELATED [OMIM:250790]
synonym: "methemoglobinemia type IV, formerly" RELATED [OMIM:250790]
xref: DOID:0112316 {source="MONDO:equivalentTo"}
xref: GARD:15196 {source="MONDO:GARD"}
xref: MEDGEN:925090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567102 {source="MONDO:equivalentTo"}
xref: OMIM:250790 {source="MONDO:equivalentTo"}
xref: Orphanet:621 {source="OMIM:250790"}
xref: UMLS:C4285231 {source="MEDGEN:925090", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001117 {source="DC-OMIM:250790", source="MESH:C567102", source="MONDO:Redundant", source="MONDO:indirect"} ! methemoglobinemia
is_a: MONDO:0018963 {source="Orphanet:621/btnt"} ! hereditary methemoglobinemia
intersection_of: MONDO:0001117 ! methemoglobinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2570 ! CYB5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2570 {source="MONDO:mim2gene_medgen"} ! CYB5A

[Term]
id: MONDO:0009606
name: methemoglobinemia due to deficiency of methemoglobin reductase
subset: gard_rare {source="GARD:15197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "methemoglobinemia due to deficiency of methemoglobin reductase" EXACT [OMIM:250800]
synonym: "methemoglobinemia, congenital, autosomal recessive" RELATED [OMIM:250800]
synonym: "methemoglobinemia, type 1" RELATED [OMIM:250800]
synonym: "methemoglobinemia, type 2" RELATED [OMIM:250800]
synonym: "methemoglobinemia, type I" EXACT [OMIM:250800, OMIM:genemap2]
synonym: "methemoglobinemia, type II" EXACT [OMIM:250800, OMIM:genemap2]
synonym: "NADH cytochrome B5 reductase deficiency" RELATED [GARD:0003909]
synonym: "NADH diaphorase deficiency" RELATED [GARD:0003909]
synonym: "NADH methemoglobin reductase deficiency" RELATED [GARD:0003909]
synonym: "NADH-cytochrome B5 reductase deficiency" RELATED [OMIM:250800]
synonym: "NADH-cytochrome B5 reductase deficiency, type 1" RELATED [OMIM:250800]
synonym: "NADH-cytochrome B5 reductase deficiency, type 2" RELATED [OMIM:250800]
synonym: "NADH-dependent methemoglobin reductase deficiency" RELATED [OMIM:250800]
xref: GARD:15197 {source="MONDO:GARD"}
xref: MEDGEN:75661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:250800 {source="MONDO:equivalentTo"}
xref: Orphanet:139373 {source="OMIM:250800"}
xref: Orphanet:139380 {source="OMIM:250800"}
xref: Orphanet:621 {source="OMIM:250800"}
xref: UMLS:C0268193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75661"}
is_a: MONDO:0001117 {source="DC-OMIM:250800", source="MONDO:Redundant", source="MONDO:indirect"} ! methemoglobinemia
is_a: MONDO:0018963 {source="Orphanet:621/btnt"} ! hereditary methemoglobinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2873 {source="MONDO:mim2gene_medgen"} ! CYB5R3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009607
name: methionine adenosyltransferase deficiency
def: "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." [Orphanet:168598]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168598"}
subset: orphanet_rare {source="Orphanet:168598"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain demyelination due to methionine adenosyltransferase deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/, https://orcid.org/0000-0002-5655-9589]
synonym: "hypermethioninemia, isolated persistent" RELATED [OMIM:250850]
synonym: "hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency" EXACT [OMIM:250850, OMIM:genemap2]
synonym: "isolated persistent hypermethioninemia" EXACT [NCIT:C123435]
synonym: "MAT deficiency" EXACT [Orphanet:168598]
synonym: "MAT I/III deficiency" EXACT [Orphanet:168598]
synonym: "Mat I/III deficiency" RELATED [OMIM:250850]
synonym: "methionine adenosyltransferase deficiency" EXACT CLINGEN_LABEL [OMIM:250850, Orphanet:168598]
synonym: "methionine adenosyltransferase deficiency, autosomal recessive" EXACT [OMIM:250850, OMIM:genemap2]
synonym: "methionine adenosyltransferase I/III deficiency" RELATED [OMIM:250850]
xref: GARD:8397 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:168598", source="Orphanet:168598/attributed", source="Orphanet:168598/ntbt"}
xref: MEDGEN:75700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123435 {source="MONDO:equivalentTo"}
xref: OMIM:250850 {source="Orphanet:168598", source="MONDO:equivalentTo", source="Orphanet:168598/e"}
xref: Orphanet:168598 {source="MONDO:equivalentTo", source="OMIM:250850"}
xref: UMLS:C0268621 {source="MEDGEN:75700", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C123435", source="Orphanet:168598/inferred"} ! metabolic disease
is_a: MONDO:0019222 {source="Orphanet:168598"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6903 {source="MONDO:mim2gene_medgen"} ! MAT1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009608
name: methionine malabsorption syndrome
synonym: "methionine malabsorption syndrome" EXACT [OMIM:250900]
synonym: "oasthouse urine disease" RELATED [OMIM:250900]
synonym: "Smith-strang disease" RELATED [OMIM:250900]
xref: MEDGEN:78693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562682 {source="MONDO:equivalentTo"}
xref: OMIM:250900 {source="MONDO:equivalentTo"}
xref: SCTID:45812003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78693"}
is_a: MONDO:0003847 {source="MESH:C562682/inferred"} ! hereditary disease

[Term]
id: MONDO:0009609
name: methylcobalamin deficiency type cblG
def: "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine." [https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2170"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cblG" RELATED [GARD:0003577]
synonym: "functional methionine synthase deficiency type cblG" EXACT [Orphanet:2170]
synonym: "HMAG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250940]
synonym: "homocystinuria due to defect in methylation Cbl g" RELATED [GARD:0002733]
synonym: "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type" RELATED OMO:0003005 []
synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type" RELATED [OMIM:250940]
synonym: "homocystinuria-megaloblastic anemia, cblG complementation type" RELATED [GARD:0003577, MONDO:Lexical, OMIM:250940]
synonym: "methionine synthase deficiency" RELATED [OMIM:250940]
synonym: "methylcobalamin deficiency Cbl G type" RELATED [GARD:0003577]
synonym: "methylcobalamin deficiency type cblG" EXACT CLINGEN_LABEL []
synonym: "methylcobalamin deficiency, cblG type" RELATED [OMIM:250940]
synonym: "methylmalonic aciduria and homocystinuria type cblG" RELATED [DOID:0050733]
xref: DOID:0050733 {source="EFO:0005597", source="MONDO:equivalentTo"}
xref: DOID:0112256 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:3577 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:2170/attributed", source="Orphanet:2170/ntbt", source="Orphanet:2170"}
xref: MEDGEN:344426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201111 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:250940 {source="Orphanet:2170/e", source="MONDO:equivalentTo", source="Orphanet:2170"}
xref: Orphanet:2170 {source="MONDO:equivalentTo", source="OMIM:250940"}
xref: Orphanet:622 {source="OMIM:250940"}
xref: SCTID:721187005 {source="MONDO:equivalentTo"}
xref: UMLS:C1855128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344426"}
is_a: MONDO:0018964 {source="Orphanet:2170"} ! homocystinuria without methylmalonic aciduria
relationship: excluded_subClassOf MONDO:0005240 {source="Orphanet:2170/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:2170", source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic microangiopathy
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:250940", source="Orphanet:2170"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7468 {source="MONDO:mim2gene_medgen"} ! MTR
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type" xsd:anyURI {source="GARD:0003577"}

[Term]
id: MONDO:0009610
name: 3-methylglutaconic aciduria type 1
def: "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." [Orphanet:67046]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67046"}
subset: orphanet_rare {source="Orphanet:67046"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3 alpha methylglutaconic aciduria type I" RELATED [GARD:0010321]
synonym: "3 methylglutaconic aciduria type 1" RELATED [GARD:0010321]
synonym: "3 methylglutaconyl CoA hydratase deficiency" RELATED [GARD:0010321]
synonym: "3-methylglutaconic aciduria caused by mutation in AUH" EXACT []
synonym: "3-methylglutaconic aciduria caused by mutation in auh" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type 1" EXACT CLINGEN_LABEL []
synonym: "3-methylglutaconic aciduria type I" EXACT [DOID:0110002]
synonym: "3-Methylglutaconic aciduria, type 1" RELATED [OMIM:250950]
synonym: "3-METHYLGLUTACONIC aciduria, type I" RELATED [MONDO:Lexical, OMIM:250950]
synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046]
synonym: "3-methylglutaconyl-Coa hydratase deficiency" RELATED [OMIM:250950]
synonym: "3-methylglutaconyl-CoA hydratase deficiency (auh defect)" RELATED [GARD:0010321]
synonym: "3-Mg-Coa-hydratase deficiency" RELATED [OMIM:250950]
synonym: "3-MGCA type I (3-MGCA-1)" RELATED [GARD:0010321]
synonym: "3MG CoA hydratase deficiency" RELATED [GARD:0010321]
synonym: "3MG-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046]
synonym: "AUH 3-methylglutaconic aciduria" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "auh 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern]
synonym: "MGA type I" EXACT [DOID:0110002]
synonym: "Mga, type 1" RELATED [OMIM:250950]
synonym: "MGA1" EXACT ABBREVIATION [DOID:0110002, Orphanet:67046]
synonym: "MGCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250950]
xref: DOID:0110002 {source="MONDO:equivalentTo"}
xref: GARD:10321 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:67046/attributed", source="Orphanet:67046/ntbt", source="DOID:0110002", source="Orphanet:67046"}
xref: MEDGEN:90994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562801 {source="MONDO:equivalentTo"}
xref: NANDO:1200990 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98683 {source="MONDO:equivalentTo"}
xref: OMIM:250950 {source="Orphanet:67046/e", source="MONDO:equivalentTo", source="DOID:0110002", source="Orphanet:67046"}
xref: Orphanet:67046 {source="MONDO:equivalentTo", source="DOID:0110002", source="OMIM:250950"}
xref: SCTID:237951008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342727 {source="MONDO:equivalentTo", source="MEDGEN:90994", source="MONDO:MEDGEN"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0017359 {source="DC-OMIM:250950", source="DOID:0110002", source="MONDO:Redundant", source="NCIT:C98683", source="OMIM:250950", source="Orphanet:67046"} ! 3-methylglutaconic aciduria
intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/890 ! AUH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/890 {source="MONDO:mim2gene_medgen"} ! AUH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009611
name: 3-methylglutaconic aciduria type 4
def: "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)." [Orphanet:67048]
subset: gard_rare {source="GARD:10342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67048"}
subset: orphanet_rare {source="Orphanet:67048"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3 alpha methylglutaconic aciduria type IV" RELATED [GARD:0010342]
synonym: "3 methylglutaconic aciduria type IV" RELATED [GARD:0010342]
synonym: "3-methylglutaconic aciduria type IV" EXACT [DOID:0110006]
synonym: "3-Methylglutaconic aciduria, type 4" RELATED [OMIM:250951]
synonym: "3-METHYLGLUTACONIC aciduria, type IV" RELATED [MONDO:Lexical, OMIM:250951]
synonym: "MGA type IV" EXACT [DOID:0110006]
synonym: "Mga, type 4" RELATED [OMIM:250951]
synonym: "MGA4" EXACT ABBREVIATION [DOID:0110006, Orphanet:67048]
synonym: "MGCA4" EXACT ABBREVIATION [DOID:0110006, MONDO:Lexical, OMIM:250951]
synonym: "Not otherwise specified 3-MGA-Uria type" RELATED [GARD:0010342]
xref: DOID:0110006 {source="MONDO:equivalentTo"}
xref: GARD:10342 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:67048/attributed", source="Orphanet:67048/ntbt", source="Orphanet:67048"}
xref: MEDGEN:344425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565393 {source="MONDO:equivalentTo"}
xref: OMIM:250951 {source="DOID:0110006", source="GARD:0010342", source="Orphanet:67048/e", source="MONDO:equivalentTo", source="Orphanet:67048"}
xref: Orphanet:67048 {source="DOID:0110006", source="GARD:0010342", source="MONDO:equivalentTo", source="OMIM:250951"}
xref: SCTID:297233004 {source="MONDO:equivalentTo"}
xref: UMLS:C1855126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344425"}
is_a: MONDO:0017359 {source="DC-OMIM:250951", source="DOID:0110006", source="OMIM:250951", source="Orphanet:67048"} ! 3-methylglutaconic aciduria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10342/not-otherwise-specified-3-mga-uria-type" xsd:anyURI {source="GARD:0010342"}

[Term]
id: MONDO:0009612
name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
def: "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-." [Orphanet:27]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:27"}
subset: orphanet_rare {source="Orphanet:27"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCM deficiency" RELATED [GARD:0003586]
synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [DOID:0060740]
synonym: "methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency" RELATED [OMIM:251000]
synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" EXACT CLINGEN_LABEL [OMIM:251000]
synonym: "methylmalonic aciduria mut type" EXACT [DOID:0060740]
synonym: "methylmalonic aciduria, mut type" RELATED [OMIM:251000]
synonym: "methylmalonic aciduria, mut(-) type" RELATED [OMIM:251000]
synonym: "methylmalonic aciduria, mut(0) type" RELATED [OMIM:251000]
synonym: "methylmalonyl-CoA mutase deficiency" EXACT [Orphanet:27]
synonym: "methylmalonyl-Coenzyme A mutase deficiency" EXACT [Orphanet:27]
synonym: "vitamin B12-unresponsive methylmalonic acidemia" RELATED [Orphanet:27]
synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [DOID:0060740, Orphanet:27]
xref: DOID:0060740 {source="MONDO:equivalentTo"}
xref: GARD:3586 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="DOID:0060740", source="Orphanet:27/inclusion", source="Orphanet:27", source="Orphanet:27/ntbt"}
xref: MEDGEN:344424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565390 {source="MONDO:equivalentTo"}
xref: NANDO:1200794 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C148366 {source="MONDO:equivalentTo"}
xref: OMIM:251000 {source="DOID:0060740", source="MONDO:equivalentTo", source="Orphanet:27", source="Orphanet:27/e"}
xref: Orphanet:27 {source="DOID:0060740", source="MONDO:equivalentTo", source="OMIM:251000"}
xref: Orphanet:289916 {source="OMIM:251000"}
xref: Orphanet:79312 {source="OMIM:251000"}
xref: UMLS:C1855114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344424"}
is_a: MONDO:0002012 {source="Orphanet:27"} ! methylmalonic acidemia
is_a: MONDO:0019215 ! classic organic aciduria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7526 {source="MONDO:mim2gene_medgen"} ! MMUT

[Term]
id: MONDO:0009613
name: methylmalonic aciduria, cblA type
def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." [NCIT:C142171]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cblA - cobalamin locus a" RELATED []
synonym: "cblA methylmalonic acidemia" RELATED []
synonym: "cblB - cobalamin locus b" RELATED []
synonym: "cblB methylmalonic acidemia" RELATED []
synonym: "cobalamin A disease" EXACT []
synonym: "cobalamin B disease" EXACT []
synonym: "cobalamin locus A variant" RELATED []
synonym: "cobalamin locus B variant" RELATED []
synonym: "methylmalonic acidemia cblA type" EXACT [DOID:0060742, GARD:0005500]
synonym: "methylmalonic acidemia, cblA type" EXACT [OMIM:251100]
synonym: "methylmalonic aciduria cblA type" EXACT [DOID:0060742, GARD:0005500]
synonym: "methylmalonic aciduria, cblA type" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40011/, https://orcid.org/0000-0002-5655-9589, OMIM:251100, PMID:17597648, PMID:33340416]
synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT [DOID:0060742]
synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" EXACT [DOID:0060742]
synonym: "Methylmalonic aciduria, vitamin B12-responsive, cblA type" EXACT [OMIM:251100, OMIM:genemap2]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type" RELATED [GARD:0005500]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" RELATED [OMIM:251100]
synonym: "MMA Cbl A type" RELATED [GARD:0005500]
synonym: "vitamin B12-responsive methylmalonic acidemia type cblA" EXACT [Orphanet:79310]
synonym: "vitamin B12-responsive methylmalonic aciduria type cblA" EXACT [Orphanet:79310]
xref: DOID:0060742 {source="MONDO:equivalentTo"}
xref: GARD:5500 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="DOID:0060742", source="Orphanet:79310/attributed", source="Orphanet:79310/ntbt", source="Orphanet:79310"}
xref: MEDGEN:344422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537360 {source="Orphanet:79310/e", source="Orphanet:79310"}
xref: NANDO:1200795 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201105 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C142171 {source="MONDO:equivalentTo"}
xref: OMIM:251100 {source="Orphanet:79310/e", source="MONDO:equivalentTo", source="DOID:0060742", source="Orphanet:79310"}
xref: Orphanet:28 {source="OMIM:251100"}
xref: Orphanet:79310 {source="MONDO:equivalentTo", source="DOID:0060742", source="OMIM:251100"}
xref: SCTID:73843004 {source="MONDO:equivalentTo"}
xref: SCTID:82245003 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1855109 {source="MONDO:equivalentTo", source="MEDGEN:344422", source="MONDO:MEDGEN"}
is_a: MONDO:0017214 {source="Orphanet:79310"} ! vitamin B12-responsive methylmalonic acidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18871 {source="MONDO:mim2gene_medgen"} ! MMAA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4917" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0009614
name: methylmalonic aciduria, cblB type
def: "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." [NCIT:C142172]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9479", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79311"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "methylmalonic acidemia cblB type" EXACT [DOID:0060743, GARD:0009479]
synonym: "methylmalonic acidemia, cblB type" EXACT [OMIM:251110]
synonym: "methylmalonic aciduria cblB type" EXACT [DOID:0060743]
synonym: "methylmalonic aciduria, cblB type" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-5655-9589, OMIM:251110, PMID:17597648, PMID:33340416]
synonym: "methylmalonic aciduria, vitamin B12-responsive, cblB type" EXACT [OMIM:251110, OMIM:genemap2]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT [DOID:0060743]
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" RELATED [OMIM:251110]
synonym: "vitamin B12-responsive methylmalonic acidemia type cblB" EXACT [Orphanet:79311]
synonym: "vitamin B12-responsive methylmalonic aciduria, type cblB" EXACT [Orphanet:79311]
xref: DOID:0060743 {source="MONDO:equivalentTo"}
xref: GARD:9479 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="DOID:0060743", source="Orphanet:79311/attributed", source="Orphanet:79311/ntbt", source="Orphanet:79311"}
xref: MEDGEN:344420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537361 {source="Orphanet:79311/e", source="Orphanet:79311"}
xref: NANDO:1200796 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201106 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C142172 {source="MONDO:equivalentTo"}
xref: OMIM:251110 {source="Orphanet:79311/e", source="DOID:0060743", source="MONDO:equivalentTo", source="Orphanet:79311"}
xref: Orphanet:28 {source="OMIM:251110"}
xref: Orphanet:79311 {source="DOID:0060743", source="MONDO:equivalentTo", source="OMIM:251110"}
xref: UMLS:C1855102 {source="MEDGEN:344420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017214 {source="Orphanet:79311"} ! vitamin B12-responsive methylmalonic acidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19331 {source="MONDO:mim2gene_medgen"} ! MMAB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4916" xsd:anyURI

[Term]
id: MONDO:0009615
name: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
def: "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." [Orphanet:308425]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:308425"}
subset: orphanet_rare {source="Orphanet:308425"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCEE deficiency" EXACT [Orphanet:308425]
synonym: "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" EXACT CLINGEN_LABEL []
synonym: "methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425]
synonym: "methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency" EXACT [Orphanet:308425]
synonym: "methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425]
synonym: "methylmalonic aciduria III" RELATED [OMIM:251120]
synonym: "methylmalonic aciduria III, formerly" RELATED [OMIM:251120]
synonym: "methylmalonyl-CoA epimerase deficiency" RELATED [OMIM:251120]
synonym: "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency" RELATED [OMIM:251120]
synonym: "methylmalonyl-Coa racemase deficiency" RELATED [OMIM:251120]
xref: GARD:17390 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:308425/attributed", source="Orphanet:308425/ntbt", source="Orphanet:308425"}
xref: MEDGEN:344419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565386 {source="MONDO:equivalentTo"}
xref: OMIM:251120 {source="Orphanet:308425/e", source="MONDO:equivalentTo", source="Orphanet:308425"}
xref: Orphanet:308425 {source="MONDO:equivalentTo", source="OMIM:251120"}
xref: SCTID:765137006 {source="MONDO:equivalentTo"}
xref: UMLS:C1855100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344419"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0002012 {source="Orphanet:308425"} ! methylmalonic acidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16732 {source="MONDO:mim2gene_medgen"} ! MCEE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009616
name: microcephalic primordial dwarfism, Toriello type
def: "Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." [Orphanet:2643]
subset: gard_rare {source="GARD:3602", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2643"}
subset: ordo_malformation_syndrome {source="Orphanet:2643"}
subset: orphanet_rare {source="Orphanet:2643"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephalic primordial dwarfism and cataracts" RELATED [GARD:0003602]
synonym: "microcephalic primordial dwarfism Toriello type" RELATED [GARD:0003602]
synonym: "microcephalic primordial dwarfism, Toriello type" EXACT [OMIM:251190]
xref: GARD:3602 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2643/attributed", source="Orphanet:2643/ntbt", source="Orphanet:2643"}
xref: MEDGEN:381556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537321 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"}
xref: OMIM:251190 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"}
xref: Orphanet:2643 {source="OMIM:251190", source="MONDO:equivalentTo"}
xref: SCTID:715482004 {source="MONDO:equivalentTo"}
xref: UMLS:C1855089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381556"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:3799711", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0800063 {source="PMID:3799711", source="https://orcid.org/0009-0001-6494-4831"} ! primordial dwarfism and slender bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type" xsd:anyURI {source="GARD:0003602"}

[Term]
id: MONDO:0009617
name: microcephaly 1, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in MCPH1" EXACT [MONDO:design_pattern]
synonym: "MCPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251200]
synonym: "MCPH1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microcephaly 1, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:251200]
synonym: "PCC syndrome" RELATED [OMIM:251200]
synonym: "premature chromosome condensation syndrome" RELATED [OMIM:251200]
synonym: "premature chromosome condensation with microcephaly and intellectual disability" RELATED [OMIM:251200]
synonym: "premature chromosome condensation with microcephaly and mental retardation" RELATED DEPRECATED [OMIM:251200]
xref: DOID:0070285 {source="MONDO:equivalentTo"}
xref: GARD:15198 {source="MONDO:GARD"}
xref: MEDGEN:344415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565384 {source="MONDO:equivalentTo"}
xref: OMIM:251200 {source="MONDO:equivalentTo"}
xref: Orphanet:2512 {source="OMIM:251200"}
xref: Orphanet:52183 {source="MONDO:equivalentObsolete", source="OMIM:251200"}
xref: UMLS:C1855081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344415"}
is_a: MONDO:0016660 {source="DC-OMIM:251200", source="MONDO:Redundant", source="OMIM:251200"} ! autosomal recessive primary microcephaly
is_a: MONDO:0100200 {source="https://clinicalgenome.org/affiliation/40006/"} ! microcephaly with intellectual disability
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6954 ! MCPH1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6954 {source="MONDO:mim2gene_medgen"} ! MCPH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5725" xsd:anyURI

[Term]
id: MONDO:0009618
name: microcephaly-cardiomyopathy syndrome
def: "A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive." [Orphanet:2515]
subset: gard_rare {source="GARD:3609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2515"}
subset: ordo_malformation_syndrome {source="Orphanet:2515"}
subset: orphanet_rare {source="Orphanet:2515"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly with cardiomyopathy" RELATED [GARD:0003609]
synonym: "microcephaly-cardiomyopathy" RELATED [OMIM:251220]
synonym: "severe microcephaly and self-limiting dilated cardiomyopathy" RELATED [GARD:0003609]
synonym: "severe microcephaly with intellectual disability and dilated cardiomyopathy" RELATED [GARD:0003609]
synonym: "severe microcephaly with mental retardation and dilated cardiomyopathy" RELATED DEPRECATED [GARD:0003609]
synonym: "Winship-Viljoen-Leary syndrome" EXACT [Orphanet:2515]
xref: GARD:3609 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2515", source="Orphanet:2515/attributed", source="Orphanet:2515/ntbt"}
xref: MEDGEN:381554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536711 {source="MONDO:equivalentTo", source="Orphanet:2515", source="Orphanet:2515/e"}
xref: MESH:C537324 {source="Orphanet:2515", source="Orphanet:2515/e"}
xref: OMIM:251220 {source="MONDO:equivalentTo", source="Orphanet:2515", source="Orphanet:2515/e"}
xref: Orphanet:2515 {source="MONDO:equivalentTo", source="OMIM:251220"}
xref: SCTID:719380003 {source="MONDO:equivalentTo"}
xref: UMLS:C1855080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381554"}
is_a: MONDO:0015159 {source="Orphanet:2515"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: disease_has_major_feature HP:0001644 {source="Orphanet:2515"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2515", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:2515", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009619
name: microcephaly-micromelia syndrome
subset: gard_rare {source="GARD:18011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:572768"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly-micromelia syndrome" EXACT [OMIM:251230]
synonym: "MIMIS" RELATED ABBREVIATION [OMIM:251230]
xref: DOID:0081432 {source="MONDO:equivalentTo"}
xref: GARD:18011 {source="MONDO:GARD"}
xref: MEDGEN:381553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565382 {source="MONDO:equivalentTo"}
xref: OMIM:251230 {source="MONDO:equivalentTo"}
xref: Orphanet:572768 {source="MONDO:equivalentTo"}
xref: UMLS:C1855079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381553"}
is_a: MONDO:0003847 {source="MESH:C565382/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2993 {source="MONDO:mim2gene_medgen"} ! DONSON

[Term]
id: MONDO:0009620
name: Say-Barber-Miller syndrome
def: "Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." [Orphanet:3132]
subset: gard_rare {source="GARD:239", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3132"}
subset: ordo_malformation_syndrome {source="Orphanet:3132"}
subset: orphanet_rare {source="Orphanet:3132"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly hypogammaglobulinemia abnormal immunity" RELATED [GARD:0000239]
synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinemia" RELATED [OMIM:251240]
synonym: "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome" EXACT [Orphanet:3132]
synonym: "Say Barber Miller syndrome" RELATED [GARD:0000239]
xref: GARD:239 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3132/attributed", source="Orphanet:3132/ntbt", source="Orphanet:3132"}
xref: MEDGEN:343258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536618 {source="Orphanet:3132/e", source="MONDO:equivalentTo", source="Orphanet:3132"}
xref: OMIM:251240 {source="Orphanet:3132/e", source="MONDO:equivalentTo", source="Orphanet:3132"}
xref: Orphanet:3132 {source="MONDO:equivalentTo", source="OMIM:251240"}
xref: SCTID:721903007 {source="MONDO:equivalentTo"}
xref: UMLS:C1855078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343258"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003778 {source="https://orcid.org/0000-0002-5002-8648"} ! inborn error of immunity
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0015159 {source="Orphanet:3132"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3132", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome" xsd:anyURI {source="GARD:0000239"}

[Term]
id: MONDO:0009621
name: microcephaly-cervical spine fusion anomalies syndrome
def: "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." [Orphanet:2522]
subset: gard_rare {source="GARD:3610", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2522"}
subset: ordo_malformation_syndrome {source="Orphanet:2522"}
subset: orphanet_rare {source="Orphanet:2522"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly cervical spine fusion anomalies" RELATED [GARD:0003610]
synonym: "microcephaly with cervical spine fusion anomalies" RELATED [OMIM:251250]
synonym: "microcephaly, mild intellectual disability, short stature, and skeletal anomalies" RELATED [GARD:0003610]
synonym: "microcephaly, mild mental retardation, short stature, and skeletal anomalies" RELATED DEPRECATED [GARD:0003610]
xref: GARD:3610 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2522/attributed", source="Orphanet:2522/ntbt", source="Orphanet:2522"}
xref: MEDGEN:208663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537325 {source="Orphanet:2522", source="MONDO:equivalentTo", source="Orphanet:2522/e"}
xref: OMIM:251250 {source="Orphanet:2522", source="MONDO:equivalentTo", source="Orphanet:2522/e"}
xref: Orphanet:2522 {source="MONDO:equivalentTo", source="OMIM:251250"}
xref: SCTID:715462003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208663"}
is_a: MONDO:0015159 {source="Orphanet:2522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2522", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009622
name: Jawad syndrome
def: "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated." [Orphanet:313795]
subset: gard_rare {source="GARD:17410", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313795"}
subset: ordo_malformation_syndrome {source="Orphanet:313795"}
subset: orphanet_rare {source="Orphanet:313795"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JAWAD syndrome" RELATED [OMIM:251255]
synonym: "Jawad syndrome" EXACT [MONDO:Lexical, OMIM:251255]
synonym: "JWDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251255]
synonym: "Kelly syndrome" RELATED [OMIM:251255]
synonym: "microcephaly with intellectual disability and digital anomalies" RELATED [OMIM:251255]
synonym: "microcephaly with mental retardation and digital anomalies" RELATED DEPRECATED [OMIM:251255]
xref: GARD:17410 {source="MONDO:GARD"}
xref: MEDGEN:810673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:251255 {source="Orphanet:313795", source="MONDO:equivalentTo", source="Orphanet:313795/e"}
xref: Orphanet:313795 {source="MONDO:equivalentTo", source="OMIM:251255"}
xref: UMLS:C0796063 {source="MEDGEN:810673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:313795"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9891 {source="MONDO:mim2gene_medgen"} ! RBBP8

[Term]
id: MONDO:0009623
name: Nijmegen breakage syndrome
def: "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." [Orphanet:647]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3904", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:647"}
subset: ordo_malformation_syndrome {source="Orphanet:647"}
subset: orphanet_rare {source="Orphanet:647"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AT V1" EXACT [Orphanet:647]
synonym: "ataxia-telangiectasia variant V1" RELATED [OMIM:251260]
synonym: "ataxia-telangiectasia variant V2" RELATED [OMIM:251260]
synonym: "ataxia-telangiectasia, variant 1" EXACT [Orphanet:647]
synonym: "Berlin breakage syndrome" EXACT [DOID:7400, OMIM:251260, Orphanet:647]
synonym: "immunodeficiency, microcephaly, and chromosomal instability" RELATED [OMIM:251260]
synonym: "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT [Orphanet:647]
synonym: "microcephaly immunodeficiency lymphoreticuloma" RELATED [GARD:0003904]
synonym: "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies" RELATED [GARD:0003904]
synonym: "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies" RELATED [OMIM:251260]
synonym: "microcephaly, normal intelligence and immunodeficiency" EXACT [DOID:7400]
synonym: "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT [Orphanet:647]
synonym: "NBs" EXACT [Orphanet:647]
synonym: "Nijmegen breakage syndrome" EXACT CLINGEN_LABEL [OMIM:251260]
synonym: "Nonsyndromal microcephaly autosomal recessive with normal intelligence" RELATED [GARD:0003904]
synonym: "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence" RELATED [OMIM:251260]
synonym: "Seemanova syndrome" EXACT [DOID:7400]
synonym: "Seemanova syndrome 2" RELATED [OMIM:251260]
synonym: "Seemanova syndrome type 2" EXACT [Orphanet:647]
xref: DOID:7400 {source="MONDO:equivalentTo"}
xref: GARD:3904 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:647/attributed", source="Orphanet:647/ntbt", source="Orphanet:647"}
xref: MedDRA:10067857 {source="Orphanet:647", source="Orphanet:647/e"}
xref: MEDGEN:140771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531759 {source="Orphanet:647", source="Orphanet:647/e"}
xref: MESH:D049932 {source="DOID:7400", source="Orphanet:647", source="MONDO:equivalentTo", source="Orphanet:647/e"}
xref: NANDO:1200332 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200706 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4692 {source="DOID:7400", source="MONDO:equivalentTo"}
xref: OMIM:251260 {source="DOID:7400", source="Orphanet:647", source="MONDO:equivalentTo", source="Orphanet:647/e"}
xref: Orphanet:647 {source="OMIM:251260", source="MONDO:equivalentTo"}
xref: SCTID:234638009 {source="DOID:7400", source="MONDO:equivalentTo"}
xref: UMLS:C0398791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140771"}
is_a: MONDO:0006025 {source="DOID:7400", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015161 {source="Orphanet:647"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:647", source="Orphanet:647/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0021190 {source="MESH:D049932", source="MONDO:Redundant", source="NCIT:C4692"} ! DNA repair disease
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:251260", source="Orphanet:647"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7652 {source="MONDO:mim2gene_medgen"} ! NBN
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome" xsd:anyURI {source="GARD:0003904"}

[Term]
id: MONDO:0009624
name: microcephaly and chorioretinopathy 1
def: "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." [NCIT:C129306]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2518"}
subset: ordo_malformation_syndrome {source="Orphanet:2518"}
subset: orphanet_rare {source="Orphanet:2518"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive chorioretinopathy-microcephaly syndrome" RELATED [Orphanet:2518]
synonym: "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome" EXACT [Orphanet:2518]
synonym: "MCCRP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251270]
synonym: "microcephaly and chorioretinopathy 1" EXACT CLINGEN_LABEL []
synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP6" EXACT [MONDO:design_pattern]
synonym: "microcephaly and chorioretinopathy type 1" EXACT [DOID:0080105, MONDORULE:1]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:251270]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:251270]
synonym: "Pseudotoxoplasmosis syndrome" EXACT [Orphanet:2518]
synonym: "TUBGCP6 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080105 {source="MONDO:equivalentTo"}
xref: GARD:16603 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2518/attributed", source="Orphanet:2518/ntbt", source="Orphanet:2518"}
xref: MEDGEN:480111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129306 {source="MONDO:equivalentTo"}
xref: OMIM:251270 {source="Orphanet:2518/e", source="MONDO:equivalentTo", source="DOID:0080105", source="Orphanet:2518"}
xref: Orphanet:2518 {source="OMIM:251270", source="MONDO:equivalentTo"}
xref: UMLS:C3278481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:480111"}
is_a: MONDO:0000181 {source="DC-OMIM:251270", source="MONDO:Redundant", source="OMIM:251270"} ! microcephaly and chorioretinopathy
is_a: MONDO:0002254 {source="DOID:0080105"} ! syndromic disease
is_a: MONDO:0019118 {source="Orphanet:2518"} ! inherited retinal dystrophy
intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18127 ! TUBGCP6
relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18127 {source="MONDO:mim2gene_medgen"} ! TUBGCP6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI

[Term]
id: MONDO:0009625
name: diencephalic-mesencephalic junction dysplasia syndrome 1
subset: gard_rare {source="GARD:8510", source="MONDO:GARD"}
subset: rare
synonym: "DMJDS1" EXACT ABBREVIATION [OMIM:251280]
synonym: "microcephaly with spastic quadriplegia" EXACT [OMIM:251280]
synonym: "microcephaly, seizures, spasticity, and brain calcifications" RELATED [OMIM:251280]
synonym: "MISSBC" RELATED ABBREVIATION [OMIM:251280]
synonym: "recessive microcephaly with spastic quadriplegia" RELATED [GARD:0008510]
xref: GARD:8510 {source="MONDO:GARD"}
xref: MEDGEN:1615973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537546 {source="MONDO:equivalentTo"}
xref: OMIM:251280 {source="MONDO:equivalentTo"}
xref: UMLS:C4538630 {source="MEDGEN:1615973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017868 {source="OMIM:251280"} ! diencephalic-mesencephalic junction dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia" xsd:anyURI {source="GARD:0008510"}

[Term]
id: MONDO:0009626
name: pseudo-TORCH syndrome
def: "A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent." [Orphanet:1229]
subset: gard_rare {source="GARD:12426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1229"}
subset: ordo_malformation_syndrome {source="Orphanet:1229"}
subset: orphanet_rare {source="Orphanet:1229"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [DOID:0050656, MONDO:Lexical, OMIM:251290]
synonym: "Baraitser Brett Piesowicz syndrome" RELATED [GARD:0000815]
synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT [Orphanet:1229]
synonym: "Baraitser-Reardon syndrome" EXACT [Orphanet:1229]
synonym: "bilateral band-like calcification with polymicrogyria" EXACT [Orphanet:1229]
synonym: "BLC-PMG" EXACT [Orphanet:1229]
synonym: "BLCPMG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251290]
synonym: "congenital intrauterine infection-like syndrome" RELATED [Orphanet:1229]
synonym: "microcephaly - intracranial calcification - intellectual disability" RELATED [GARD:0012426]
synonym: "microcephaly intracranial calcification" RELATED [GARD:0000815]
synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [Orphanet:1229]
synonym: "pseudo-TORCH syndrome" EXACT [OMIM:251290, Orphanet:1229]
xref: DOID:0050656 {source="MONDO:equivalentTo"}
xref: GARD:12426 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1229/attributed", source="Orphanet:1229/ntbt", source="Orphanet:1229"}
xref: MEDGEN:483678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:251290 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1229 {source="OMIM:251290", source="MONDO:equivalentTo"}
xref: SCTID:722390006 {source="MONDO:equivalentTo"}
xref: UMLS:C3489725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483678"}
is_a: MONDO:0003847 {source="OMIMPS:251290"} ! hereditary disease
is_a: MONDO:0006025 {source="DOID:0050656", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:251290", source="Orphanet:1229"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:251290"} ! inherited

[Term]
id: MONDO:0009627
name: Galloway-Mowat syndrome
def: "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." [Orphanet:2065]
subset: gard_rare {source="GARD:65", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1171", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2065"}
subset: ordo_malformation_syndrome {source="Orphanet:2065"}
subset: orphanet_rare {source="Orphanet:2065"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [OMIM:251300]
synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED DEPRECATED [OMIM:251300]
synonym: "Galloway Mowat syndrome" RELATED [GARD:0000065]
synonym: "Galloway syndrome" EXACT [DOID:0060364, Orphanet:2065]
synonym: "Galloway-Mowat syndrome" EXACT [MONDO:Lexical, OMIM:251300]
synonym: "GAMOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251300]
synonym: "hiatal hernia-microcephaly-nephrosis, Galloway type" RELATED [GARD:0000065]
synonym: "microcephaly nephrosis syndrome" RELATED [GARD:0000065]
synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [DOID:0060364]
synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [GARD:0000065, OMIM:251300]
synonym: "microcephaly-hiatus hernia-nephrotic syndrome" EXACT [Orphanet:2065]
synonym: "nephrosis neuronal dysmigration syndrome" RELATED [GARD:0000065]
synonym: "nephrosis-microcephaly syndrome" EXACT [DOID:0060364]
synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [DOID:0060364, Orphanet:2065]
synonym: "spinocerebellar ataxia, autosomal recessive 5" EXACT [OMIM:251300]
synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300]
xref: DOID:0080694 {source="MONDO:equivalentTo"}
xref: GARD:65 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:2065/attributed", source="Orphanet:2065/ntbt", source="Orphanet:2065"}
xref: MEDGEN:167086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537548 {source="DOID:0060364", source="Orphanet:2065/e", source="DOID:0080694", source="MONDO:equivalentTo", source="Orphanet:2065"}
xref: NANDO:1200713 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200120 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201385 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C132195 {source="DOID:0080694", source="MONDO:equivalentTo"}
xref: NORD:1171 {source="MONDO:NORD"}
xref: OMIMPS:251300 {source="DOID:0080694", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2065 {source="GARD:0000065", source="DOID:0060364", source="DOID:0080694", source="MONDO:equivalentTo", source="OMIM:251300"}
xref: SCTID:721297008 {source="DOID:0080694", source="MONDO:equivalentTo"}
xref: UMLS:C0795949 {source="MEDGEN:167086", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0080694", source="MONDO:Redundant", source="NCIT:C132195"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2065", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000007 {source="Orphanet:2065"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:251300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009628
name: obsolete microcolon
def: "A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development." [NCIT:C98987]
synonym: "microcolon" EXACT [MONDO:ambiguous, OMIM:251400]
synonym: "microcolon (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0004388 {source="MONDO:otherHierarchy"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C562563 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C98987 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:251400 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:18389004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5129" xsd:anyURI
property_value: IAO:0000589 "microcolon (disease)" xsd:string
is_obsolete: true
consider: HP:0004388

[Term]
id: MONDO:0009629
name: Desbuquois dysplasia 1
def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CANT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DBQD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251450]
synonym: "Desbuquois dysplasia 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:251450]
synonym: "Desbuquois dysplasia caused by mutation in CANT1" EXACT [MONDO:design_pattern]
synonym: "Desbuquois dysplasia type 1" EXACT [MONDORULE:1, OMIM:251450]
synonym: "Desbuquois dysplasia, Kim variant" RELATED [OMIM:251450]
synonym: "desbuquois syndrome" RELATED [OMIM:251450]
synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [OMIM:251450]
xref: GARD:16451 {source="MONDO:GARD"}
xref: MEDGEN:860583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:251450 {source="MONDO:equivalentTo"}
xref: Orphanet:1425 {source="OMIM:251450"}
xref: UMLS:C4012146 {source="MEDGEN:860583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015426 {source="DC-OMIM:251450", source="MONDO:Redundant", source="OMIM:251450"} ! Desbuquois dysplasia
intersection_of: MONDO:0015426 ! Desbuquois dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19721 ! CANT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19721 {source="MONDO:mim2gene_medgen"} ! CANT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009630
name: microphthalmia, isolated, with coloboma 4
subset: gard_rare {source="GARD:15200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPCB4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251505]
synonym: "microphthalmia with colobomatous cyst" RELATED [OMIM:251505]
synonym: "microphthalmia, isolated, with coloboma 4" EXACT [MONDO:Lexical, OMIM:251505]
synonym: "microphthalmia, isolated, with coloboma type 4" EXACT [MONDORULE:1, OMIM:251505]
xref: GARD:15200 {source="MONDO:GARD"}
xref: MEDGEN:344410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565378 {source="MONDO:equivalentTo"}
xref: OMIM:251505 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:251505"}
xref: SCTID:715771008 {source="MONDO:equivalentTo"}
xref: UMLS:C1855053 {source="MEDGEN:344410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000170 {source="MONDO:0009630/inferred", source="MONDO:Redundant", source="OMIM:251505", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma

[Term]
id: MONDO:0009631
name: isolated microphthalmia 1
def: "A microphthalmia that has material basis in variation in the chromosomal region 14q32." [DOID:0060840, PMID:9545413]
synonym: "anophthalmia, clinical, isolated" RELATED [OMIM:251600]
synonym: "isolated microphthalmia type 1" EXACT [DOID:0060840, MONDORULE:1]
synonym: "Mcop" RELATED [OMIM:251600]
synonym: "MCOP1" EXACT ABBREVIATION [DOID:0060840, MONDO:Lexical, OMIM:251600]
synonym: "microphthalmia, isolated 1" RELATED [MONDO:Lexical, OMIM:251600]
synonym: "microphthalmos, autosomal recessive" RELATED [OMIM:251600]
xref: DOID:0060840 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q11.0 {source="DOID:0060840"}
xref: MEDGEN:381546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565377 {source="MONDO:equivalentTo"}
xref: OMIM:251600 {source="DOID:0060840", source="MONDO:equivalentTo"}
xref: Orphanet:2542 {source="MONDO:relatedTo", source="DOID:0060840", source="OMIM:251600"}
xref: UMLS:C1855052 {source="MEDGEN:381546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000062 {source="DC-OMIM:251600", source="OMIM:251600"} ! isolated microphthalmia

[Term]
id: MONDO:0009632
name: microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies
synonym: "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies" EXACT [OMIM:251700]
xref: MEDGEN:368490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566884 {source="MONDO:equivalentTo"}
xref: OMIM:251700 {source="MONDO:equivalentTo"}
xref: UMLS:C1968637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:368490"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009633
name: microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
subset: otar {source="MONDO:OTAR"}
synonym: "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" EXACT [MONDO:Lexical, OMIM:251750]
synonym: "MSPKA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251750]
xref: MEDGEN:761238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:251750 {source="MONDO:equivalentTo"}
xref: Orphanet:238763 {source="OMIM:251750"}
xref: UMLS:C3538951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761238"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100236 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2-related ocular dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="MONDO:mim2gene_medgen"} ! LTBP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI

[Term]
id: MONDO:0009634
name: microtia with meatal atresia and conductive deafness
synonym: "familial microtia and meatal atresia" RELATED [GARD:0003657]
synonym: "familial microtia with meatal atresia and conductive deafness" RELATED [GARD:0003657]
synonym: "Gupta Patton syndrome" RELATED [GARD:0000357]
synonym: "microtia meatal atresia deafness dominant" RELATED [GARD:0000357]
synonym: "microtia with meatal atresia and conductive deafness" EXACT [GARD:0000357, OMIM:251800]
synonym: "microtia, meatal atresia and conductive deafness" RELATED [GARD:0003657]
xref: MEDGEN:419093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537469 {source="MONDO:equivalentTo"}
xref: OMIM:251800 {source="MONDO:equivalentTo", source="GARD:0000357", source="GARD:0003657"}
xref: UMLS:C2931502 {source="MEDGEN:419093", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009635
name: microvillus inclusion disease
def: "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium." [Orphanet:2290]
subset: gard_rare {source="GARD:7039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1446"}
subset: ordo_disorder {source="Orphanet:2290"}
subset: orphanet_rare {source="Orphanet:2290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital familial protracted diarrhea" RELATED [GARD:0007039]
synonym: "congenital familial protracted diarrhea with enterocyte Brush-border abnormalities" RELATED [OMIM:251850]
synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [DOID:0060775]
synonym: "congenital familial protracted diarrhoea" RELATED OMO:0003005 []
synonym: "congenital familial protracted diarrhoea with enterocyte Brush-border abnormalities" RELATED OMO:0003005 []
synonym: "congenital familial protracted diarrhoea with enterocyte brush-border abnormalities" EXACT OMO:0003005 []
synonym: "congenital microvillous atrophy" EXACT [Orphanet:2290]
synonym: "congenital microvillus atrophy" EXACT [DOID:0060775, Orphanet:2290]
synonym: "Davidson disease" EXACT [DOID:0060775, OMIM:251850]
synonym: "Davidson's disease" RELATED [GARD:0007039]
synonym: "DIAR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251850]
synonym: "diarrhea 2 with microvillus atrophy" EXACT [DOID:0060775]
synonym: "diarrhea 2, with microvillus atrophy" RELATED [MONDO:Lexical, OMIM:251850]
synonym: "diarrhoea 2 with microvillus atrophy" EXACT OMO:0003005 []
synonym: "diarrhoea 2, with microvillus atrophy" RELATED OMO:0003005 []
synonym: "familial enteropathy, microvillus" RELATED [GARD:0007039]
synonym: "intractable diarrhea of infancy" RELATED [DOID:0060775, OMIM:251850]
synonym: "intractable diarrhoea of infancy" RELATED OMO:0003005 []
synonym: "microvillous inclusion disease" EXACT [Orphanet:2290]
synonym: "microvillus atrophy, congenital" RELATED [OMIM:251850]
synonym: "microvillus inclusion disease" EXACT CLINGEN_LABEL [OMIM:251850]
synonym: "MVD" EXACT ABBREVIATION [DOID:0060775]
synonym: "MVID" EXACT ABBREVIATION [Orphanet:2290]
synonym: "MYO5B secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MYO5B secretory diarrhoea" EXACT OMO:0003005 []
synonym: "secretory diarrhea caused by mutation in MYO5B" EXACT [MONDO:design_pattern]
synonym: "secretory diarrhoea caused by mutation in MYO5B" EXACT OMO:0003005 []
xref: DOID:0060775 {source="MONDO:equivalentTo"}
xref: GARD:7039 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="DOID:0060775", source="Orphanet:2290", source="Orphanet:2290/attributed", source="Orphanet:2290/ntbt"}
xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068494 {source="Orphanet:2290", source="Orphanet:2290/e"}
xref: MEDGEN:137954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100255 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200913 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1446 {source="MONDO:NORD"}
xref: OMIM:251850 {source="MONDO:equivalentTo", source="DOID:0060775", source="Orphanet:2290", source="Orphanet:2290/e"}
xref: Orphanet:2290 {source="MONDO:equivalentTo", source="DOID:0060775", source="OMIM:251850"}
xref: SCTID:235729009 {source="MONDO:equivalentTo"}
xref: UMLS:C0341306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137954"}
is_a: MONDO:0000824 {source="DC-OMIM:251850", source="DOID:0060775", source="OMIM:251850"} ! congenital diarrhea
intersection_of: MONDO:0000249 {source="MONDO:mim2gene_medgen"} ! secretory diarrhea
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7603 {source="MONDO:mim2gene_medgen"} ! MYO5B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7603 {source="MONDO:mim2gene_medgen"} ! MYO5B

[Term]
id: MONDO:0009636
name: mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279934"}
subset: orphanet_rare {source="Orphanet:279934"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DGUOK mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial DNA depletion syndrome 3" EXACT CLINGEN_LABEL []
synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:251880]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in DGUOK" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 3" EXACT [DOID:0080121, MONDORULE:1]
synonym: "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" RELATED [Orphanet:279934]
synonym: "MTDPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251880]
xref: DOID:0080121 {source="MONDO:equivalentTo"}
xref: GARD:13644 {source="MONDO:GARD"}
xref: MEDGEN:1682503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:251880 {source="DOID:0080121", source="MONDO:equivalentTo", source="Orphanet:279934", source="Orphanet:279934/e"}
xref: Orphanet:279934 {source="MONDO:equivalentTo", source="OMIM:251880"}
xref: UMLS:C5191055 {source="MEDGEN:1682503", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:251880", source="Orphanet:279934/inferred"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0019236 {source="Orphanet:279934"} ! inborn disorder of purine metabolism
is_a: MONDO:0100512 {source="Orphanet:279934", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2858 ! DGUOK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2858 {source="MONDO:mim2gene_medgen"} ! DGUOK

[Term]
id: MONDO:0009637
name: inborn mitochondrial myopathy
def: "Myopathy caused by mitochondrial abnormalities." [NCIT:C101328]
subset: disease_grouping
subset: gard_rare {source="GARD:20371", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:206966"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial cytopathy" EXACT [DOID:699]
synonym: "mitochondrial myopathy" EXACT [NCIT:C101328, OMIM:251900]
xref: DOID:699 {source="MONDO:equivalentTo"}
xref: GARD:20371 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:206966", source="Orphanet:206966/attributed", source="Orphanet:206966/ntbt"}
xref: icd11.foundation:601991549 {source="Orphanet:206966", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10027710 {source="Orphanet:206966", source="Orphanet:206966/e"}
xref: MEDGEN:56484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017240 {source="DOID:699", source="Orphanet:206966", source="MONDO:equivalentTo", source="Orphanet:206966/e"}
xref: NCIT:C101328 {source="DOID:699", source="MONDO:equivalentTo"}
xref: Orphanet:206966 {source="MONDO:equivalentTo"}
xref: SCTID:16851005 {source="DOID:699"}
xref: SCTID:240096000 {source="DOID:699"}
xref: UMLS:C0162670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56484"}
is_a: MONDO:0002921 {source="NCIT:C101328"} ! congenital structural myopathy
is_a: MONDO:0004069 {source="MESH:D017240"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0005336 {source="DOID:699", source="MONDO:Redundant", source="NCIT:C101328/inferred"} ! myopathy
intersection_of: MONDO:0004069 ! inborn mitochondrial metabolism disorder
intersection_of: MONDO:0005336 ! myopathy
relationship: excluded_subClassOf MONDO:0016117 {source="Orphanet:206966", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular lipidosis

[Term]
id: MONDO:0009638
name: mitochondrial myopathy with a defect in mitochondrial-protein transport
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mitochondrial myopathy with a defect in mitochondrial-protein transport" EXACT [OMIM:251945]
xref: MEDGEN:381541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565376 {source="MONDO:equivalentTo"}
xref: OMIM:251945 {source="MONDO:equivalentTo"}
xref: UMLS:C1855034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381541"}
is_a: MONDO:0009637 {source="DC-OMIM:251945", source="MESH:C565376"} ! inborn mitochondrial myopathy

[Term]
id: MONDO:0009639
name: obsolete mitochondrial myopathy with lactic acidosis
is_obsolete: true
replaced_by: MONDO:0016825

[Term]
id: MONDO:0009640
name: obsolete mitochondrial complex I deficiency, nuclear type
comment: Split this into a new term, this term had both a OMIMPS and OMIM class as equivalent.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2277" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100223

[Term]
id: MONDO:0009641
name: obsolete mitochondrial complex II deficiency
comment: Created new class that is child of OMIMPS.
xref: NANDO:1200181 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2758" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100294

[Term]
id: MONDO:0009642
name: orofaciodigital syndrome type II
def: "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." [Orphanet:2751]
subset: gard_rare {source="GARD:3701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2751"}
subset: ordo_malformation_syndrome {source="Orphanet:2751"}
subset: orphanet_rare {source="Orphanet:2751"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MOHR syndrome" EXACT [OMIM:252100]
synonym: "Mohr syndrome" EXACT [Orphanet:2751]
synonym: "OFD syndrome 2" RELATED [GARD:0003701]
synonym: "OFD2" EXACT ABBREVIATION [Orphanet:2751]
synonym: "Ofds 2" RELATED [OMIM:252100]
synonym: "oral facial digital syndrome 2" RELATED [GARD:0003701]
synonym: "oral facial digital syndrome type 2" RELATED [GARD:0003701]
synonym: "oral-facial-digital syndrome type 2" EXACT [Orphanet:2751]
synonym: "oral-Facial-digital syndrome, type 2" RELATED [OMIM:252100]
synonym: "orofaciodigital syndrome 2" RELATED [OMIM:252100]
synonym: "orofaciodigital syndrome II" RELATED [GARD:0003701]
synonym: "orofaciodigital syndrome type 2" RELATED [Orphanet:2751]
xref: DOID:0060959 {source="MONDO:equivalentTo"}
xref: GARD:3701 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2751", source="Orphanet:2751/attributed", source="Orphanet:2751/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538585 {source="Orphanet:2751", source="Orphanet:2751/e"}
xref: OMIM:252100 {source="Orphanet:2751", source="MONDO:equivalentTo", source="Orphanet:2751/e"}
xref: Orphanet:2751 {source="MONDO:equivalentTo", source="OMIM:252100"}
xref: SCTID:1779005 {source="MONDO:equivalentTo"}
xref: UMLS:C0026363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10077"}
is_a: MONDO:0015375 {source="Orphanet:2751"} ! orofaciodigital syndrome
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2751", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009643
name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:308386"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308386"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT [DOID:0111164, Orphanet:308386]
synonym: "MOCOD type A" EXACT [DOID:0111164, Orphanet:308386]
synonym: "MOCODA" EXACT ABBREVIATION [DOID:0111164, MONDO:Lexical, OMIM:252150]
synonym: "molybdenum cofactor deficiency A" EXACT [OMIM:252150, OMIM:genemap2]
synonym: "molybdenum cofactor deficiency complementation group A" EXACT [DOID:0111164]
synonym: "molybdenum cofactor deficiency type A" RELATED [DOID:0111164]
synonym: "molybdenum cofactor deficiency, complementation group A" RELATED [MONDO:Lexical, OMIM:252150]
synonym: "molybdenum cofactor deficiency, complementation group type a" EXACT [MONDORULE:1, OMIM:252150]
synonym: "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" RELATED [OMIM:252150]
xref: DOID:0111164 {source="MONDO:equivalentTo"}
xref: GARD:17386 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:308386", source="Orphanet:308386/attributed", source="Orphanet:308386/ntbt"}
xref: MEDGEN:381530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565372 {source="MONDO:equivalentTo"}
xref: OMIM:252150 {source="MONDO:equivalentTo", source="DOID:0111164", source="Orphanet:308386", source="Orphanet:308386/e"}
xref: Orphanet:308386 {source="OMIM:252150", source="MONDO:equivalentTo", source="DOID:0111164"}
xref: Orphanet:833 {source="OMIM:252150"}
xref: Orphanet:99732 {source="OMIM:252150"}
xref: PMID:9731530 {source="DOID:0111164"}
xref: UMLS:C1854988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381530"}
is_a: MONDO:0020480 {source="DOID:0111164", source="OMIM:252150", source="Orphanet:308386"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7190 {source="MONDO:mim2gene_medgen"} ! MOCS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009644
name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17387", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:308393"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308393"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT [DOID:0111163, Orphanet:308393]
synonym: "MOCOD type B" EXACT [DOID:0111163, Orphanet:308393]
synonym: "MOCODB" EXACT ABBREVIATION [DOID:0111163, MONDO:Lexical, OMIM:252160]
synonym: "molybdenum cofactor deficiency B" EXACT [OMIM:252160, OMIM:genemap2]
synonym: "molybdenum cofactor deficiency complementation group B" EXACT [DOID:0111163]
synonym: "molybdenum cofactor deficiency type B" RELATED [DOID:0111163]
synonym: "molybdenum cofactor deficiency, complementation group B" RELATED [MONDO:Lexical, OMIM:252160]
synonym: "molybdenum cofactor deficiency, complementation group type B" EXACT [MONDORULE:1, OMIM:252160]
synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" EXACT CLINGEN_LABEL []
xref: DOID:0111163 {source="MONDO:equivalentTo"}
xref: GARD:17387 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:308393/attributed", source="Orphanet:308393/ntbt", source="Orphanet:308393"}
xref: MEDGEN:340760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565373 {source="MONDO:equivalentTo"}
xref: OMIM:252160 {source="Orphanet:308393", source="MONDO:equivalentTo", source="DOID:0111163", source="Orphanet:308393/e"}
xref: Orphanet:308393 {source="OMIM:252160", source="MONDO:equivalentTo", source="DOID:0111163"}
xref: Orphanet:833 {source="OMIM:252160"}
xref: Orphanet:99732 {source="OMIM:252160"}
xref: PMID:10053004 {source="DOID:0111163"}
xref: UMLS:C1854989 {source="MEDGEN:340760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020480 {source="DOID:0111163", source="OMIM:252160", source="Orphanet:308393"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7193 {source="MONDO:mim2gene_medgen"} ! MOCS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009645
name: chronic mucocutaneous candidiasis due to monocyte chemotactic disorder
subset: gard_rare {source="GARD:15203", source="MONDO:GARD"}
subset: rare
synonym: "monocyte chemotactic disorder" EXACT [OMIM:252250]
xref: GARD:15203 {source="MONDO:GARD"}
xref: MEDGEN:343238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565371 {source="MONDO:equivalentTo"}
xref: OMIM:252250 {source="MONDO:equivalentTo"}
xref: UMLS:C1854982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343238"}
is_a: MONDO:0015279 {source="Orphanet:1334/btnt"} ! chronic mucocutaneous candidiasis

[Term]
id: MONDO:0009646
name: monosomy 7 myelodysplasia and leukemia syndrome 1
subset: gard_rare {source="GARD:18505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 7Q deletion" EXACT [OMIM:252270]
synonym: "M7MLS1" EXACT ABBREVIATION [OMIM:252270]
synonym: "monosomy 7 of bone marrow" EXACT [OMIM:252270]
synonym: "myelodysplasia and leukaemia syndrome with monosomy 7" EXACT OMO:0003005 []
synonym: "myelodysplasia and leukemia syndrome with monosomy 7" EXACT [OMIM:252270]
xref: GARD:18505 {source="MONDO:GARD"}
xref: MEDGEN:381529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565370 {source="MONDO:equivalentTo"}
xref: NCIT:C176908 {source="MONDO:equivalentTo"}
xref: OMIM:252270 {source="MONDO:equivalentTo"}
xref: UMLS:C1854978 {source="MEDGEN:381529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044645 {source="OMIM:252270"} ! familial monosomy 7 syndrome

[Term]
id: MONDO:0009647
name: Morquio syndrome C
subset: gard_rare {source="GARD:7059", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Morquio syndrome C" EXACT [OMIM:252300]
synonym: "Morquio syndrome type C" EXACT [MONDORULE:1, OMIM:252300]
synonym: "Morquio syndrome, Nonkeratosulfate-Excreting type" RELATED [OMIM:252300]
xref: GARD:7059 {source="MONDO:GARD"}
xref: MEDGEN:443986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536247 {source="MONDO:equivalentTo"}
xref: OMIM:252300 {source="MONDO:equivalentTo"}
xref: Orphanet:582 {source="OMIM:252300"}
xref: UMLS:C2931140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443986"}
is_a: MONDO:0018938 {source="Orphanet:582/btnt"} ! mucopolysaccharidosis type 4

[Term]
id: MONDO:0009648
name: peripheral motor neuropathy-dysautonomia syndrome
def: "Peripheral motor neuropathy-dysautonomia syndrome is characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive." [Orphanet:2400]
subset: gard_rare {source="GARD:3791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2400"}
subset: orphanet_rare {source="Orphanet:2400"}
subset: rare
synonym: "Lisker-Garcia-Ramos syndrome" EXACT [Orphanet:2400]
synonym: "motor neuropathy, peripheral, with dysautonomia" RELATED [OMIM:252320]
xref: GARD:3791 {source="MONDO:GARD"}
xref: MEDGEN:381527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536988 {source="Orphanet:2400", source="MONDO:equivalentTo", source="Orphanet:2400/e"}
xref: OMIM:252320 {source="Orphanet:2400", source="MONDO:equivalentTo", source="Orphanet:2400/e"}
xref: Orphanet:2400 {source="MONDO:equivalentTo", source="OMIM:252320"}
xref: UMLS:C1854961 {source="MEDGEN:381527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
is_a: MONDO:0015914 {source="Orphanet:2400"} ! primary orthostatic hypotension

[Term]
id: MONDO:0009649
name: moyamoya disease 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Moyamoya disease" RELATED [OMIM:252350]
synonym: "Moyamoya disease 1" RELATED [MONDO:Lexical, OMIM:252350]
synonym: "MYMY1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252350]
synonym: "spontaneous occlusion of the circle of Willis" RELATED [OMIM:252350]
xref: ICD9:437.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:419790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536991 {source="MONDO:equivalentTo"}
xref: OMIM:252350 {source="MONDO:equivalentTo"}
xref: Orphanet:2573 {source="OMIM:252350"}
xref: SCTID:69116000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931384 {source="MEDGEN:419790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016820 {source="DC-OMIM:252350", source="OMIM:252350"} ! Moyamoya disease

[Term]
id: MONDO:0009650
name: mucolipidosis type II
def: "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." [Orphanet:576]
subset: gard_rare {source="GARD:6749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1279"}
subset: ordo_disorder {source="Orphanet:576"}
subset: orphanet_rare {source="Orphanet:576"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GNPTA" RELATED ABBREVIATION [GARD:0006749]
synonym: "I Cell Disease" EXACT [NORD:1279]
synonym: "I cell disease" RELATED [GARD:0006749]
synonym: "I-cell disease" EXACT [DOID:0080070, OMIM:252500, Orphanet:576]
synonym: "inclusion cell disease" RELATED [GARD:0006749]
synonym: "Leroy disease" RELATED [GARD:0006749]
synonym: "ML 2" RELATED [GARD:0006749]
synonym: "ML 2 Alpha/Beta" RELATED [OMIM:252500]
synonym: "ML disorder type 2" RELATED [GARD:0006749]
synonym: "mucolipidosis 2" RELATED [OMIM:252500]
synonym: "mucolipidosis 2 alpha/beta" RELATED [OMIM:252500]
synonym: "mucolipidosis II" EXACT [DOID:0080070]
synonym: "mucolipidosis II alpha/beta" RELATED [OMIM:252500]
synonym: "mucolipidosis type II" EXACT [NCIT:C61270]
synonym: "mucolipidosis type II alpha/beta" EXACT [Orphanet:576]
synonym: "N-acetylglucosamine 1-phosphotransferase deficiency" EXACT [Orphanet:576]
synonym: "N-acetylglucosamine 1phosphotransferase deficiency" RELATED [GARD:0006749]
xref: DOID:0080070 {source="MONDO:equivalentTo"}
xref: GARD:6749 {source="MONDO:GARD"}
xref: ICD10CM:E77.0 {source="Orphanet:576", source="Orphanet:576/ntbt", source="Orphanet:576/inclusion"}
xref: MEDGEN:435914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538602 {source="Orphanet:576", source="MONDO:equivalentTo", source="Orphanet:576/e"}
xref: NANDO:1200124 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200567 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61270 {source="MONDO:equivalentTo"}
xref: NORD:1279 {source="MONDO:NORD"}
xref: OMIM:252500 {source="Orphanet:576", source="MONDO:equivalentTo", source="Orphanet:576/e", source="DOID:0080070"}
xref: Orphanet:576 {source="MONDO:equivalentTo", source="OMIM:252500"}
xref: SCTID:70199000 {source="MONDO:equivalentTo"}
xref: UMLS:C2673377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:435914"}
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019248 {source="DC-OMIM:252500", source="MESH:C538602", source="NCIT:C61270", source="Orphanet:576"} ! mucolipidosis
is_a: MONDO:0100122 {source="PMID:20301728", source="PMID:32651481"} ! GNPTAB-mucolipidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29670 {source="MONDO:mim2gene_medgen"} ! GNPTAB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5565" xsd:anyURI

[Term]
id: MONDO:0009651
name: obsolete pseudo-Hurler polydystrophy
is_obsolete: true
replaced_by: MONDO:0018931

[Term]
id: MONDO:0009652
name: GNPTG-mucolipidosis
def: "A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:423470]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:423470"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GNPTG-mucolipidosis" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-5655-9589]
synonym: "ML 3 gamma" EXACT [OMIM:252605, Orphanet:423470]
synonym: "ML 3C" RELATED [OMIM:252605]
synonym: "ML III gamma" EXACT [Orphanet:423470]
synonym: "mucolipidosis 3 gamma" RELATED [OMIM:252605]
synonym: "mucolipidosis 3C" RELATED [OMIM:252605]
synonym: "mucolipidosis III gamma" RELATED [OMIM:252605]
synonym: "mucolipidosis III, complementation group C" RELATED [OMIM:252605]
synonym: "mucolipidosis III, Iranian variant form" RELATED [OMIM:252605]
synonym: "mucolipidosis III, variant form" RELATED [OMIM:252605]
synonym: "mucolipidosis type 3 gamma" EXACT [Orphanet:423470]
synonym: "mucolipidosis type III gamma" EXACT [Orphanet:423470]
xref: DOID:0080678 {source="MONDO:equivalentTo"}
xref: GARD:17705 {source="MONDO:GARD"}
xref: ICD10CM:E77.0 {source="Orphanet:423470/attributed", source="Orphanet:423470/ntbt", source="Orphanet:423470"}
xref: MEDGEN:340743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565367 {source="MONDO:equivalentTo"}
xref: NCIT:C129978 {source="MONDO:equivalentTo"}
xref: OMIM:252605 {source="Orphanet:423470/e", source="MONDO:equivalentTo", source="Orphanet:423470"}
xref: Orphanet:423470 {source="OMIM:252605", source="MONDO:equivalentTo"}
xref: Orphanet:577 {source="OMIM:252605"}
xref: UMLS:C1854896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340743"}
is_a: MONDO:0019248 {source="https://orcid.org/0000-0002-6601-2165"} ! mucolipidosis
is_a: MONDO:0031422 {source="OMIM:252605"} ! familial mucolipidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23026 {source="MONDO:mim2gene_medgen"} ! GNPTG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6021" xsd:anyURI

[Term]
id: MONDO:0009653
name: mucolipidosis type IV
def: "A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus." [Orphanet:578]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:94", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1460", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:578"}
subset: orphanet_rare {source="Orphanet:578"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Berman syndrome" RELATED [GARD:0000094, GTR:AN1125032]
synonym: "ganglioside neuraminidase deficiency" RELATED [GARD:0000094, GTR:AN1125033]
synonym: "ganglioside sialidase deficiency" RELATED [GARD:0000094, GTR:AN1124590]
synonym: "ML 4" RELATED [GARD:0000094, OMIM:252650]
synonym: "ML IV" EXACT ABBREVIATION [Orphanet:578]
synonym: "ML4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:252650]
synonym: "MLIV" EXACT ABBREVIATION [GTR:AN1148743]
synonym: "mucolipidosis 4" RELATED [OMIM:252650]
synonym: "Mucolipidosis IV" EXACT [NORD:1460]
synonym: "mucolipidosis IV" RELATED [MONDO:Lexical, OMIM:252650]
synonym: "mucolipidosis type 4" EXACT [MONDORULE:1, OMIM:252650]
synonym: "mucolipidosis type IV" EXACT [GARD:0000094]
synonym: "sialolipidosis" RELATED [OMIM:252650]
xref: DOID:0080490 {source="MONDO:equivalentTo"}
xref: GARD:94 {source="MONDO:GARD"}
xref: GTR:AN1124590
xref: GTR:AN1125032
xref: GTR:AN1125033
xref: GTR:AN1148743
xref: ICD10CM:E75.1 {source="Orphanet:578/ntbt", source="Orphanet:578", source="Orphanet:578/inclusion"}
xref: MEDGEN:68663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84896 {source="MONDO:equivalentTo"}
xref: NORD:1460 {source="MONDO:NORD"}
xref: OMIM:252650 {source="Orphanet:578", source="MONDO:equivalentTo", source="Orphanet:578/e", source="GARD:0000094"}
xref: Orphanet:578 {source="MONDO:equivalentTo", source="OMIM:252650", source="GARD:0000094"}
xref: SCTID:111384001 {source="MONDO:equivalentTo"}
xref: UMLS:C0238286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68663"}
is_a: MONDO:0002561 {source="NCIT:C84896/inferred", source="Orphanet:578", source="Orphanet:578/inferred", source="PMID:21502308"} ! lysosomal storage disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019248 {source="DC-OMIM:252650", source="NCIT:C84896", source="Orphanet:578"} ! mucolipidosis
is_a: MONDO:0031422 {source="OMIM:252650"} ! familial mucolipidosis
relationship: disease_has_basis_in_disruption_of GO:0005381 {source="PMID:21502308"} ! iron ion transmembrane transporter activity
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13356 {source="MONDO:mim2gene_medgen"} ! MCOLN1

[Term]
id: MONDO:0009654
name: obsolete mucopolysaccharidoses, unclassified types
synonym: "mucopolysaccharidoses, unclassified types" EXACT [OMIM:252700]
xref: MESH:C562442 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:252700 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3788" xsd:anyURI
is_obsolete: true
consider: MONDO:0019249

[Term]
id: MONDO:0009655
name: mucopolysaccharidosis type 3A
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." [NCIT:C84897]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:79269"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79269"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "heparan sulfamidase deficiency" EXACT [Orphanet:79269]
synonym: "heparan sulfate sulfatase deficiency" RELATED [OMIM:252900]
synonym: "heparan sulphate sulfatase deficiency" RELATED OMO:0003005 []
synonym: "heparane sulfamidase deficiency" RELATED [GARD:0002649]
synonym: "MPS 3A" RELATED [OMIM:252900]
synonym: "MPS III A" EXACT [NCIT:C84897]
synonym: "MPS IIIA" RELATED [GARD:0007071]
synonym: "MPS3A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252900, Orphanet:79269]
synonym: "MPSIIIA" EXACT ABBREVIATION [Orphanet:79269]
synonym: "mucopoly-saccharidosis type 3A" RELATED [GARD:0007071]
synonym: "mucopolysaccharidosis type 3A" EXACT CLINGEN_LABEL [Orphanet:79269]
synonym: "mucopolysaccharidosis type IIIA" EXACT [Orphanet:79269]
synonym: "mucopolysaccharidosis type IIIA (Sanfilippo A)" EXACT [OMIM:252900, OMIM:genemap2]
synonym: "mucopolysaccharidosis, type 3A" RELATED [OMIM:252900]
synonym: "mucopolysaccharidosis, type IIIA" RELATED [MONDO:Lexical, OMIM:252900]
synonym: "Sanfilippo A" EXACT [NCIT:C84897]
synonym: "Sanfilippo syndrome a" EXACT [OMIM:252900]
synonym: "Sanfilippo syndrome type A" EXACT [OMIM:252900]
synonym: "sulfamidase deficiency" RELATED [OMIM:252900]
xref: DOID:0111395 {source="MONDO:equivalentTo"}
xref: GARD:7071 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:79269/attributed", source="Orphanet:79269/ntbt", source="Orphanet:79269"}
xref: MEDGEN:39264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200101 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201174 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84897 {source="MONDO:equivalentTo"}
xref: OMIM:252900 {source="Orphanet:79269/e", source="MONDO:equivalentTo", source="Orphanet:79269"}
xref: Orphanet:581 {source="OMIM:252900"}
xref: Orphanet:79269 {source="OMIM:252900", source="MONDO:equivalentTo"}
xref: SCTID:41572006 {source="MONDO:equivalentTo"}
xref: UMLS:C0086647 {source="MEDGEN:39264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="NCIT:C84897/inferred", source="Orphanet:79269/inferred", source="PMID:21723623"} ! lysosomal storage disease
is_a: MONDO:0018937 {source="NCIT:C84897", source="Orphanet:79269"} ! mucopolysaccharidosis type 3
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_disruption_of GO:0004561 ! alpha-N-acetylglucosaminidase activity
relationship: disease_has_basis_in_disruption_of GO:0016250 ! N-sulfoglucosamine sulfohydrolase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10818 {source="MONDO:mim2gene_medgen"} ! SGSH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5075" xsd:anyURI

[Term]
id: MONDO:0009656
name: mucopolysaccharidosis type 3B
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84898]
subset: gard_rare {source="GARD:7072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:79270"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79270"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MPS 3B" RELATED [OMIM:252920]
synonym: "MPS III B" EXACT [NCIT:C84898]
synonym: "MPS IIIB" RELATED [GARD:0007072]
synonym: "MPS3B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252920, Orphanet:79270]
synonym: "MPSIIIB" EXACT ABBREVIATION [Orphanet:79270]
synonym: "Mucopoly-saccharidosis type 3B" RELATED [GARD:0007072]
synonym: "mucopolysaccharidosis type 3B" EXACT CLINGEN_LABEL [Orphanet:79270]
synonym: "mucopolysaccharidosis type IIIB" EXACT [Orphanet:79270]
synonym: "mucopolysaccharidosis type IIIB (Sanfilippo B)" EXACT [OMIM:252920, OMIM:genemap2]
synonym: "mucopolysaccharidosis, type 3B" RELATED [OMIM:252920]
synonym: "mucopolysaccharidosis, type IIIB" RELATED [MONDO:Lexical, OMIM:252920]
synonym: "N-Acetyl-Alpha-D-glucosaminidase deficiency" RELATED [OMIM:252920]
synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT [Orphanet:79270]
synonym: "NAGLU deficiency" RELATED [OMIM:252920]
synonym: "Sanfilippo B" EXACT [NCIT:C84898]
synonym: "Sanfilippo syndrome B" EXACT [OMIM:252920]
synonym: "Sanfilippo syndrome type B" EXACT [OMIM:252920]
xref: DOID:0111394 {source="MONDO:equivalentTo"}
xref: GARD:7072 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:79270/attributed", source="Orphanet:79270/ntbt", source="Orphanet:79270"}
xref: MEDGEN:88601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200102 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201175 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84898 {source="MONDO:equivalentTo"}
xref: OMIM:252920 {source="Orphanet:79270", source="MONDO:equivalentTo", source="Orphanet:79270/e"}
xref: Orphanet:581 {source="OMIM:252920"}
xref: Orphanet:79270 {source="MONDO:equivalentTo", source="OMIM:252920"}
xref: SCTID:59990008 {source="MONDO:equivalentTo"}
xref: UMLS:C0086648 {source="MEDGEN:88601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018937 {source="NCIT:C84898", source="Orphanet:79270"} ! mucopolysaccharidosis type 3
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7632 {source="MONDO:mim2gene_medgen"} ! NAGLU
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5075" xsd:anyURI

[Term]
id: MONDO:0009657
name: mucopolysaccharidosis type 3C
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84899]
subset: gard_rare {source="GARD:7073", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:79271"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79271"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency" RELATED [GARD:0007073]
synonym: "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" RELATED [OMIM:252930]
synonym: "heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT [Orphanet:79271]
synonym: "HGSNAT deficiency" EXACT [Orphanet:79271]
synonym: "MPS 3C" RELATED [OMIM:252930]
synonym: "MPS III C" EXACT [NCIT:C84899]
synonym: "MPS IIIC" RELATED [GARD:0007073]
synonym: "MPS3C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252930, Orphanet:79271]
synonym: "MPSIIIC" EXACT ABBREVIATION [Orphanet:79271]
synonym: "Mucopoly-saccharidosis type 3C" RELATED [GARD:0007073]
synonym: "mucopolysaccharidosis type 3C" EXACT CLINGEN_LABEL [OMIM:252930, Orphanet:79271]
synonym: "mucopolysaccharidosis type IIIC" EXACT [Orphanet:79271]
synonym: "mucopolysaccharidosis type IIIC (Sanfilippo C)" EXACT [OMIM:252930, OMIM:genemap2]
synonym: "mucopolysaccharidosis, type 3C" RELATED [OMIM:252930]
synonym: "mucopolysaccharidosis, type IIIC" RELATED [MONDO:Lexical, OMIM:252930]
synonym: "Sanfilippo C" EXACT [NCIT:C84899]
synonym: "Sanfilippo syndrome C" RELATED [OMIM:252930]
synonym: "Sanfilippo syndrome type C" EXACT [OMIM:252930]
xref: DOID:0111393 {source="MONDO:equivalentTo"}
xref: GARD:7073 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:79271", source="Orphanet:79271/attributed", source="Orphanet:79271/ntbt"}
xref: MEDGEN:39477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200103 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201176 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84899 {source="MONDO:equivalentTo"}
xref: OMIM:252930 {source="MONDO:equivalentTo", source="Orphanet:79271", source="Orphanet:79271/e"}
xref: Orphanet:581 {source="OMIM:252930"}
xref: Orphanet:79271 {source="MONDO:equivalentTo", source="OMIM:252930"}
xref: SCTID:75238000 {source="MONDO:equivalentTo"}
xref: UMLS:C0086649 {source="MEDGEN:39477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018937 {source="NCIT:C84899", source="Orphanet:79271"} ! mucopolysaccharidosis type 3
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26527 {source="MONDO:mim2gene_medgen"} ! HGSNAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5075" xsd:anyURI

[Term]
id: MONDO:0009658
name: mucopolysaccharidosis type 3D
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." [NCIT:C84900]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:79272"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79272"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glucosamine N-acetyl-6-sulfatase deficiency" EXACT [Orphanet:79272]
synonym: "GNS deficiency" EXACT [Orphanet:79272]
synonym: "MPS 3D" RELATED [OMIM:252940]
synonym: "MPS III D" EXACT [NCIT:C84900]
synonym: "MPS IIID" RELATED [GARD:0007074]
synonym: "MPS3D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252940, Orphanet:79272]
synonym: "MPSIIID" EXACT ABBREVIATION [Orphanet:79272]
synonym: "Mucopoly-saccharidosis type 3D" RELATED [GARD:0007074]
synonym: "mucopolysaccharidosis type 3D" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40110/, Orphanet:79272]
synonym: "mucopolysaccharidosis type IIID" EXACT [Orphanet:79272]
synonym: "mucopolysaccharidosis, type 3D" RELATED [OMIM:252940]
synonym: "mucopolysaccharidosis, type IIID" RELATED [MONDO:Lexical, OMIM:252940]
synonym: "N-acetylglucosamine-6-sulfatase deficiency" RELATED [OMIM:252940]
synonym: "N-acetylglucosamine-6-sulfate sulfatase deficiency" RELATED [GARD:0007074]
synonym: "Sanfilippo D" EXACT [NCIT:C84900]
synonym: "Sanfilippo syndrome D" EXACT [OMIM:252940]
synonym: "Sanfilippo syndrome type D" EXACT [OMIM:252940]
xref: DOID:0111402 {source="MONDO:equivalentTo"}
xref: GARD:7074 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:79272", source="Orphanet:79272/attributed", source="Orphanet:79272/ntbt"}
xref: MEDGEN:88602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200104 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201177 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84900 {source="MONDO:equivalentTo"}
xref: OMIM:252940 {source="MONDO:equivalentTo", source="Orphanet:79272", source="Orphanet:79272/e"}
xref: Orphanet:581 {source="OMIM:252940"}
xref: Orphanet:79272 {source="MONDO:equivalentTo", source="OMIM:252940"}
xref: SCTID:15892005 {source="MONDO:equivalentTo"}
xref: UMLS:C0086650 {source="MEDGEN:88602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018937 {source="NCIT:C84900", source="Orphanet:79272"} ! mucopolysaccharidosis type 3
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4422 {source="MONDO:mim2gene_medgen"} ! GNS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5075" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0009659
name: mucopolysaccharidosis type 4A
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." [NCIT:C84901]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3785", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "galactosamine-6-sulfatase deficiency" EXACT [Orphanet:309297]
synonym: "GALNS deficiency" EXACT [OMIM:253000, Orphanet:309297]
synonym: "Morquio A disease" BROAD [OMIM:253000]
synonym: "Morquio disease type A" EXACT [Orphanet:309297]
synonym: "Morquio syndrome A" EXACT [OMIM:253000]
synonym: "MPS 4A" RELATED [OMIM:253000]
synonym: "MPS IV A" EXACT [NCIT:C84901]
synonym: "MPS IVA" RELATED [GARD:0003785]
synonym: "MPS4A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253000, Orphanet:309297]
synonym: "MPSIVA" EXACT ABBREVIATION [Orphanet:309297]
synonym: "mucopolysaccharidosis IVA" EXACT [OMIM:253000, OMIM:genemap2]
synonym: "mucopolysaccharidosis type 4A" EXACT CLINGEN_LABEL []
synonym: "mucopolysaccharidosis type IVA" EXACT [Orphanet:309297]
synonym: "mucopolysaccharidosis, type 4A" RELATED [OMIM:253000]
synonym: "mucopolysaccharidosis, type IVA" RELATED [MONDO:Lexical, OMIM:253000]
synonym: "N-acetylgalactosamine-6-sulfate sulfatase deficiency" EXACT [Orphanet:309297]
xref: DOID:0111391 {source="MONDO:equivalentTo"}
xref: GARD:3785 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:309297", source="Orphanet:309297/attributed", source="Orphanet:309297/ntbt"}
xref: MEDGEN:43375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200106 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201178 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84901 {source="MONDO:equivalentTo"}
xref: OMIM:253000 {source="MONDO:equivalentTo", source="Orphanet:309297", source="Orphanet:309297/e"}
xref: Orphanet:309297 {source="MONDO:equivalentTo", source="OMIM:253000"}
xref: Orphanet:582 {source="OMIM:253000"}
xref: SCTID:7259005 {source="MONDO:equivalentTo"}
xref: UMLS:C0086651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43375"}
is_a: MONDO:0018938 {source="NCIT:C84901", source="Orphanet:309297"} ! mucopolysaccharidosis type 4
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
intersection_of: MONDO:0019249 ! mucopolysaccharidosis
intersection_of: disease_has_basis_in_disruption_of GO:0033844 ! galactose-6-sulfurylase activity
relationship: disease_has_basis_in_disruption_of GO:0033844 {source="https://orcid.org/0000-0002-6601-2165"} ! galactose-6-sulfurylase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4122 {source="MONDO:mim2gene_medgen"} ! GALNS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009660
name: mucopolysaccharidosis type 4B
def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." [NCIT:C84902]
subset: gard_rare {source="GARD:3786", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta-D-galactosidase deficiency" EXACT [Orphanet:309310]
synonym: "Morquio disease type B" EXACT [Orphanet:309310]
synonym: "Morquio syndrome B" EXACT [OMIM:253010]
synonym: "MPS 4B" EXACT [OMIM:253010]
synonym: "MPS IV B" EXACT [NCIT:C84902]
synonym: "MPS IVB" RELATED [GARD:0003786]
synonym: "MPS4B" EXACT ABBREVIATION [Orphanet:309310]
synonym: "MPSIVB" EXACT ABBREVIATION [Orphanet:309310]
synonym: "mucopolysaccharidosis type IVB" EXACT [Orphanet:309310]
synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT [OMIM:253010, OMIM:genemap2]
synonym: "mucopolysaccharidosis, type 4B" RELATED [OMIM:253010]
synonym: "mucopolysaccharidosis, type IVB" RELATED [OMIM:253010]
xref: DOID:0111392 {source="MONDO:equivalentTo"}
xref: GARD:3786 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:309310", source="Orphanet:309310/attributed", source="Orphanet:309310/ntbt"}
xref: MEDGEN:43376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200107 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201179 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84902 {source="MONDO:equivalentTo"}
xref: OMIM:253010 {source="MONDO:equivalentTo", source="Orphanet:309310", source="Orphanet:309310/e"}
xref: Orphanet:309310 {source="MONDO:equivalentTo", source="OMIM:253010"}
xref: Orphanet:582 {source="OMIM:253010"}
xref: SCTID:238044004 {source="MONDO:equivalentTo"}
xref: UMLS:C0086652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43376"}
is_a: MONDO:0018938 {source="NCIT:C84902", source="Orphanet:309310"} ! mucopolysaccharidosis type 4
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
intersection_of: MONDO:0019249 ! mucopolysaccharidosis
intersection_of: disease_has_basis_in_disruption_of GO:0004565 ! beta-galactosidase activity
relationship: disease_has_basis_in_disruption_of GO:0004565 {source="https://orcid.org/0000-0002-6601-2165"} ! beta-galactosidase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009661
name: mucopolysaccharidosis type 6
def: "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." [Orphanet:583]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1405"}
subset: ordo_disorder {source="Orphanet:583"}
subset: orphanet_rare {source="Orphanet:583"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARSB deficiency" EXACT [Orphanet:583]
synonym: "Arsb deficiency" RELATED [OMIM:253200]
synonym: "arylsulfatase B deficiency" EXACT [DOID:12800, Orphanet:583]
synonym: "ASB deficiency" EXACT [Orphanet:583]
synonym: "deficiency of N-acetylgalactosamine-4-sulfatase" EXACT [DOID:12800]
synonym: "Maroteaux - Lamy syndrome" EXACT [DOID:12800]
synonym: "Maroteaux Lamy Syndrome" EXACT [NORD:1405]
synonym: "Maroteaux Lamy syndrome" RELATED [GARD:0007095]
synonym: "Maroteaux-Lamy disease" EXACT [Orphanet:583]
synonym: "Maroteaux-Lamy syndrome" EXACT [DOID:12800]
synonym: "MPS 6" RELATED [OMIM:253200]
synonym: "MPS VI" RELATED [GARD:0007095]
synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [DOID:12800]
synonym: "MPS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253200, Orphanet:583]
synonym: "MPSVI" EXACT ABBREVIATION [Orphanet:583]
synonym: "Mucopoly-saccharidosis type VI" RELATED [GARD:0007095]
synonym: "mucopolysaccharidosis type VI" EXACT [DOID:12800, MONDO:Lexical, MONDORULE:3, OMIM:253200, Orphanet:583]
synonym: "mucopolysaccharidosis type VI (Maroteaux-Lamy)" EXACT [OMIM:253200, OMIM:genemap2]
synonym: "mucopolysaccharidosis VI" RELATED [DOID:12800]
synonym: "N-acetylgalactosamine 4-sulfatase deficiency" EXACT [Orphanet:583]
synonym: "N-acetylgalactosamine-4-sulfatase deficiency" RELATED [OMIM:253200]
xref: DOID:12800 {source="MONDO:equivalentTo"}
xref: GARD:7095 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:583/inclusion", source="Orphanet:583/ntbt", source="Orphanet:583"}
xref: icd11.foundation:1288379621 {source="MONDO:equivalentTo", source="Orphanet:583"}
xref: MedDRA:10056892 {source="Orphanet:583/e", source="Orphanet:583"}
xref: MEDGEN:44514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009087 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="Orphanet:583"}
xref: NANDO:1200108 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200109 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200110 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200551 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61264 {source="DOID:12800", source="MONDO:equivalentTo"}
xref: NORD:1405 {source="MONDO:NORD"}
xref: OMIM:253200 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="Orphanet:583"}
xref: Orphanet:583 {source="MONDO:equivalentTo", source="OMIM:253200"}
xref: SCTID:190936000 {source="DOID:12800"}
xref: SCTID:52677002 {source="DOID:12800"}
xref: SCTID:69463008 {source="DOID:12800", source="MONDO:equivalentTo"}
xref: UMLS:C0026709 {source="MEDGEN:44514", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C61264"} ! syndromic disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019249 {source="DC-OMIM:253200", source="DOID:12800", source="MESH:D009087", source="MONDO:Redundant", source="NCIT:C61264", source="OMIM:253200", source="Orphanet:583"} ! mucopolysaccharidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
intersection_of: MONDO:0019249 ! mucopolysaccharidosis
intersection_of: disease_has_basis_in_disruption_of GO:0003943 ! N-acetylgalactosamine-4-sulfatase activity
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/714 {source="MONDO:mim2gene_medgen"} ! ARSB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009662
name: mucopolysaccharidosis type 7
def: "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." [Orphanet:584]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1722"}
subset: ordo_disorder {source="Orphanet:584"}
subset: orphanet_rare {source="Orphanet:584"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta-glucuronidase deficiency" EXACT [Orphanet:584]
synonym: "beta-glucuronidase deficiency" EXACT [DOID:12803]
synonym: "deficiency of beta-glucuronidase" EXACT [DOID:12803]
synonym: "Gus deficiency" RELATED []
synonym: "Gusb deficiency" RELATED [OMIM:253220]
synonym: "gusb deficiency" RELATED []
synonym: "MPS 7" RELATED [OMIM:253220]
synonym: "MPS VII" RELATED [GARD:0007096]
synonym: "MPS VII - mucopolysaccharidosis VII" RELATED []
synonym: "MPS VII - Sly syndrome" EXACT [DOID:12803]
synonym: "MPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253220, Orphanet:584]
synonym: "MPSVII" EXACT ABBREVIATION [Orphanet:584]
synonym: "mucopolysaccharidosis type 7" EXACT CLINGEN_LABEL []
synonym: "Mucopolysaccharidosis Type VII" EXACT [NORD:1722]
synonym: "mucopolysaccharidosis type VII" EXACT [Orphanet:584]
synonym: "mucopolysaccharidosis VII" EXACT [DOID:12803]
synonym: "mucopolysaccharidosis, mps-VII" EXACT []
synonym: "mucopolysaccharidosis, type 7" RELATED [OMIM:253220]
synonym: "mucopolysaccharidosis, type VII" RELATED [MONDO:Lexical, OMIM:253220]
synonym: "Sly disease" EXACT [Orphanet:584]
synonym: "Sly syndrome" EXACT [OMIM:253220]
xref: DOID:12803 {source="MONDO:equivalentTo"}
xref: GARD:7096 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:584/ntbt", source="Orphanet:584/inclusion", source="Orphanet:584"}
xref: ICD10CM:E76.29 {source="DOID:12803"}
xref: MedDRA:10056893 {source="Orphanet:584/e", source="Orphanet:584"}
xref: MEDGEN:43108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016538 {source="Orphanet:584/e", source="DOID:12803", source="MONDO:equivalentTo", source="Orphanet:584"}
xref: NANDO:1200111 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200552 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84903 {source="DOID:12803", source="MONDO:equivalentTo"}
xref: NORD:1722 {source="MONDO:NORD"}
xref: OMIM:253220 {source="Orphanet:584/e", source="DOID:12803", source="MONDO:equivalentTo", source="Orphanet:584"}
xref: Orphanet:584 {source="MONDO:equivalentTo", source="OMIM:253220"}
xref: SCTID:124470009 {source="DOID:12803"}
xref: SCTID:43916004 {source="DOID:12803", source="MONDO:equivalentTo"}
xref: UMLS:C0085132 {source="MEDGEN:43108", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="DOID:12803/inferred", source="MESH:D016538/inferred", source="NCIT:C84903/inferred", source="Orphanet:584/inferred", source="PMID:21723623"} ! lysosomal storage disease
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019249 {source="DC-OMIM:253220", source="DOID:12803", source="MESH:D016538", source="MONDO:Redundant", source="NCIT:C84903", source="OMIM:253220", source="Orphanet:584"} ! mucopolysaccharidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
intersection_of: MONDO:0019249 ! mucopolysaccharidosis
intersection_of: disease_has_basis_in_disruption_of GO:0004566 ! beta-glucuronidase activity
relationship: disease_has_basis_in_disruption_of GO:0004566 {source="PMID:21723623"} ! beta-glucuronidase activity
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4696 {source="MONDO:mim2gene_medgen"} ! GUSB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009663
name: mucus inspissation of respiratory tract
synonym: "mucus inspissation of respiratory tract" EXACT [OMIM:253240]
xref: MEDGEN:340702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565366 {source="MONDO:equivalentTo"}
xref: OMIM:253240 {source="MONDO:equivalentTo"}
xref: UMLS:C1854729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340702"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009664
name: mulibrey nanism
def: "A prenatal onset growth disorder with multiorgan manifestations." [Orphanet:2576]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:95", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1465"}
subset: ordo_disorder {source="Orphanet:2576"}
subset: ordo_malformation_syndrome {source="Orphanet:2576"}
subset: orphanet_rare {source="Orphanet:2576"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MUL" EXACT ABBREVIATION [Orphanet:2576]
synonym: "mulibrey dwarfism" EXACT [Orphanet:2576]
synonym: "mulibrey nanism" EXACT CLINGEN_LABEL [OMIM:253250]
synonym: "muscle-liver-brain-eye nanism" EXACT [DOID:0050436, OMIM:253250, Orphanet:2576]
synonym: "Perheentupa syndrome" EXACT [DOID:0050436, OMIM:253250, Orphanet:2576]
synonym: "pericardial constriction and Growth failure" RELATED [OMIM:253250]
synonym: "pericardial constriction and growth failure" EXACT [DOID:0050436]
synonym: "pericardial constriction-growth failure syndrome" EXACT [Orphanet:2576]
xref: DOID:0050436 {source="MONDO:equivalentTo"}
xref: GARD:95 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2576/attributed", source="Orphanet:2576/ntbt", source="Orphanet:2576"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:99347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538604 {source="Orphanet:2576", source="Orphanet:2576/e"}
xref: MESH:D050336 {source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="Orphanet:2576/e"}
xref: NCIT:C84906 {source="DOID:0050436", source="MONDO:equivalentTo"}
xref: NORD:1465 {source="MONDO:NORD"}
xref: OMIM:253250 {source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="Orphanet:2576/e"}
xref: Orphanet:2576 {source="OMIM:253250", source="MONDO:equivalentTo"}
xref: SCTID:81604003 {source="DOID:0050436", source="MONDO:equivalentTo"}
xref: UMLS:C0524582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99347"}
is_a: MONDO:0002254 {source="NCIT:C84906"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0050436", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0021147 {source="Orphanet:2576", source="Orphanet:2576/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0100306 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisome oxidative status
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:253250", source="Orphanet:2576"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7523 {source="MONDO:mim2gene_medgen"} ! TRIM37
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism" xsd:anyURI {source="GARD:0000095"}

[Term]
id: MONDO:0009665
name: biotinidase deficiency
def: "Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." [Orphanet:79241]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:894", source="MONDO:GARD"}
subset: nord_rare {source="NORD:857", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79241"}
subset: orphanet_rare {source="Orphanet:79241"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "biotin deficiency" RELATED [GARD:0000894]
synonym: "biotinidase deficiency" EXACT CLINGEN_LABEL [OMIM:253260]
synonym: "BTD deficiency" EXACT [DOID:856, OMIM:253260, Orphanet:79241]
synonym: "deficiency of biotinidase" EXACT [DOID:856]
synonym: "juvenile-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet:79241]
synonym: "late-onset biotin-responsive multiple carboxylase deficiency" RELATED [GARD:0000894]
synonym: "late-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet:79241]
synonym: "multiple carboxylase deficiency, juvenile-onset" RELATED [OMIM:253260]
synonym: "multiple carboxylase deficiency, late-onset" RELATED [OMIM:253260]
xref: DOID:856 {source="MONDO:equivalentTo"}
xref: GARD:894 {source="MONDO:GARD"}
xref: ICD10CM:D81.810 {source="DOID:856", source="MONDO:equivalentTo"}
xref: ICD10CM:E53.8 {source="Orphanet:79241", source="Orphanet:79241/attributed", source="Orphanet:79241/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071434 {source="Orphanet:79241", source="Orphanet:79241/e"}
xref: MEDGEN:66323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D028921 {source="DOID:856", source="MONDO:equivalentTo", source="Orphanet:79241", source="Orphanet:79241/e"}
xref: NANDO:1200822 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84598 {source="DOID:856", source="MONDO:equivalentTo"}
xref: NORD:857 {source="MONDO:NORD"}
xref: OMIM:253260 {source="DOID:856", source="MONDO:equivalentTo", source="Orphanet:79241", source="Orphanet:79241/e"}
xref: Orphanet:79241 {source="OMIM:253260", source="MONDO:equivalentTo"}
xref: SCTID:124513002 {source="DOID:856"}
xref: SCTID:8808004 {source="DOID:856", source="MONDO:equivalentTo"}
xref: UMLS:C0220754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66323"}
is_a: MONDO:0015454 {source="DOID:856", source="MESH:D028921", source="Orphanet:79241"} ! multiple carboxylase deficiency
is_a: MONDO:0019052 {source="DOID:856/inferred", source="MESH:D028921/inferred", source="MONDO:Redundant", source="NCIT:C84598", source="Orphanet:79241/inferred"} ! inborn errors of metabolism
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0047708 ! biotinidase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1122 {source="MONDO:mim2gene_medgen"} ! BTD

[Term]
id: MONDO:0009666
name: holocarboxylase synthetase deficiency
def: "A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." [Orphanet:79242]
comment: May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79242"}
subset: orphanet_rare {source="Orphanet:79242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT [DOID:859]
synonym: "early-onset multiple carboxylase deficiency" EXACT [Orphanet:79242]
synonym: "HLCS deficiency" RELATED [OMIM:253270]
synonym: "holocarboxylase synthase deficiency" EXACT MISSPELLING []
synonym: "holocarboxylase synthetase deficiency" EXACT CLINGEN_LABEL [NCIT:C98842, OMIM:253270]
synonym: "multiple carboxylase deficiency" BROAD [NCIT:C98842]
synonym: "multiple carboxylase deficiency - neonatal onset" EXACT [DOID:859]
synonym: "multiple carboxylase deficiency, early onset" RELATED [OMIM:253270]
synonym: "multiple carboxylase deficiency, neonatal form" RELATED [OMIM:253270]
synonym: "neonatal multiple carboxylase deficiency" EXACT [NCIT:C98842, Orphanet:79242]
xref: DOID:859 {source="MONDO:equivalentTo"}
xref: GARD:2721 {source="MONDO:GARD"}
xref: ICD10CM:D81.818 {source="DOID:859"}
xref: ICD10CM:E53.8 {source="Orphanet:79242/attributed", source="Orphanet:79242/ntbt", source="Orphanet:79242"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D028922 {source="Orphanet:79242/e", source="DOID:859", source="MONDO:equivalentTo", source="Orphanet:79242"}
xref: NANDO:1200821 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98842 {source="DOID:859", source="MONDO:equivalentTo"}
xref: NCIT:C99247 {source="DOID:859"}
xref: OMIM:253270 {source="Orphanet:79242/e", source="DOID:859", source="MONDO:equivalentTo", source="Orphanet:79242"}
xref: Orphanet:79242 {source="OMIM:253270", source="MONDO:equivalentTo"}
xref: SCTID:15307001 {source="DOID:859", source="MONDO:equivalentTo"}
xref: SCTID:237956003 {source="DOID:859"}
xref: SCTID:360367001 {source="DOID:859"}
xref: SCTID:360369003 {source="DOID:859", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0268581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120653"}
is_a: MONDO:0015454 {source="DOID:859", source="MESH:D028922", source="Orphanet:79242"} ! multiple carboxylase deficiency
is_a: MONDO:0019052 {source="DOID:859/inferred", source="MESH:D028922/inferred", source="MONDO:Redundant", source="NCIT:C98842", source="Orphanet:79242/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism
is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
relationship: disease_has_basis_in_disruption_of GO:0018271 ! biotin-protein ligase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4976 {source="MONDO:mim2gene_medgen"} ! HLCS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency" xsd:anyURI {source="GARD:0002721"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#biotinidase" xsd:anyURI

[Term]
id: MONDO:0009667
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
def: "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." [NCIT:C126740]
subset: gard_rare {source="GARD:15204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:253280]
synonym: "muscle-eye-brain-POMGNT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3" EXACT [NCIT:C126740]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" RELATED [MONDO:Lexical, OMIM:253280]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" RELATED [OMIM:253280]
xref: DOID:0111236 {source="MONDO:equivalentTo"}
xref: GARD:15204 {source="MONDO:GARD"}
xref: MEDGEN:462869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126740 {source="MONDO:equivalentTo"}
xref: OMIM:253280 {source="MONDO:equivalentTo"}
xref: Orphanet:588 {source="OMIM:253280"}
xref: Orphanet:899 {source="OMIM:253280", source="MONDO:relatedTo"}
xref: UMLS:C3151519 {source="MEDGEN:462869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000171 {source="OMIM:253280", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease
is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126740"} ! muscular dystrophy
is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1

[Term]
id: MONDO:0009668
name: lethal multiple pterygium syndrome
def: "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." [GARD:0003834]
subset: gard_rare {source="GARD:3834", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33108"}
subset: ordo_malformation_syndrome {source="Orphanet:33108"}
subset: orphanet_rare {source="Orphanet:33108"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive lethal multiple pterygium syndrome" EXACT [Orphanet:33108]
synonym: "lethal multiple pterygium syndrome" EXACT [GARD:0003834]
synonym: "LMPS" EXACT ABBREVIATION [GARD:0003834, MONDO:Lexical, OMIM:253290, Orphanet:33108]
synonym: "multiple pterygium syndrome lethal type" RELATED [GARD:0003834]
synonym: "multiple pterygium syndrome, lethal type" RELATED [MONDO:Lexical, OMIM:253290]
synonym: "pterygium syndrome multiple lethal type" RELATED [GARD:0003834]
synonym: "pterygium syndrome, multiple, lethal type" RELATED [OMIM:253290]
xref: GARD:3834 {source="MONDO:GARD"}
xref: ICD10CM:Q79.8 {source="Orphanet:33108/attributed", source="Orphanet:33108/ntbt", source="Orphanet:33108"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:381473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537378 {source="Orphanet:33108", source="Orphanet:33108/e"}
xref: NCIT:C101038 {source="MONDO:equivalentTo"}
xref: OMIM:253290 {source="Orphanet:33108", source="GARD:0003834", source="MONDO:equivalentTo", source="Orphanet:33108/e"}
xref: Orphanet:33108 {source="OMIM:253290", source="GARD:0003834", source="MONDO:equivalentTo"}
xref: SCTID:60192008 {source="MONDO:equivalentTo"}
xref: UMLS:C1854678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381473"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C101038"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:33108"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017415 {source="DC-OMIM:253290", source="OMIM:253290", source="Orphanet:33108"} ! multiple pterygium syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type" xsd:anyURI {source="GARD:0003834"}

[Term]
id: MONDO:0009669
name: spinal muscular atrophy, type 1
def: "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83330]
subset: gard_rare {source="GARD:7883", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1844"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:83330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary motor neuropathy proximal type I" EXACT [DOID:13137]
synonym: "HMN (hereditary motor neuropathy) proximal type I" EXACT [DOID:13137]
synonym: "infantile muscular atrophy" BROAD [DOID:13137]
synonym: "infantile spinal muscular atrophy" BROAD [Orphanet:83330]
synonym: "muscular atrophy, infantile" RELATED [OMIM:253300]
synonym: "progressive muscular atrophy of infancy" EXACT [DOID:13137]
synonym: "proximal spinal muscular atrophy type 1" RELATED [Orphanet:83330]
synonym: "proximal spinal muscular atrophy, type 1" RELATED [GARD:0007883]
synonym: "severe infantile spinal muscular atrophy" EXACT [NCIT:C98670]
synonym: "SMA type 1" EXACT [Orphanet:83330]
synonym: "SMA type I" EXACT [Orphanet:83330]
synonym: "SMA, infantile acute form" RELATED [OMIM:253300]
synonym: "SMA-I" EXACT [Orphanet:83330]
synonym: "SMA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253300, Orphanet:83330]
synonym: "SMNI" EXACT ABBREVIATION [https://orcid.org/0000-0001-9310-0163]
synonym: "spinal muscular atrophies of childhood" BROAD [DOID:0060160]
synonym: "spinal muscular atrophy 1" RELATED [GARD:0007883]
synonym: "spinal muscular atrophy, type I" RELATED [MONDO:Lexical, OMIM:253300]
synonym: "spinal muscular atrophy-1" EXACT [OMIM:253300, OMIM:genemap2]
synonym: "survival motor neuron spinal muscular atrophy" EXACT [MONDO:0000689]
synonym: "Werdnig Hoffmann disease" EXACT [GARD:0007883]
synonym: "Werdnig-Hoffman disease" EXACT [DOID:13137]
synonym: "Werdnig-Hoffmann Disease" EXACT [NORD:1844]
synonym: "Werdnig-Hoffmann disease" EXACT [OMIM:253300, Orphanet:83330]
xref: DOID:0060160 {source="MONDO:mondoIsNarrowerThanSource"}
xref: DOID:13137 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:7883 {source="MONDO:GARD"}
xref: ICD10CM:G12.0 {source="Orphanet:83330", source="Orphanet:83330/e", source="DOID:0060160", source="DOID:13137", source="Orphanet:83330/specific"}
xref: icd11.foundation:915903258 {source="Orphanet:83330", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:335.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060160", source="DOID:13137"}
xref: ICD9:335.11 {source="DOID:0060160"}
xref: MEDGEN:21913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014897 {source="DOID:0060160", source="DOID:13137"}
xref: NANDO:1200004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118847 {source="DOID:0060160"}
xref: NCIT:C85076 {source="DOID:0060160"}
xref: NCIT:C98670 {source="MONDO:equivalentTo", source="DOID:0060160", source="DOID:13137"}
xref: NORD:1844 {source="MONDO:NORD"}
xref: OMIM:253300 {source="Orphanet:83330", source="MONDO:equivalentTo", source="Orphanet:83330/e", source="DOID:13137"}
xref: Orphanet:70 {source="OMIM:253300"}
xref: Orphanet:83330 {source="MONDO:equivalentTo", source="OMIM:253300"}
xref: SCTID:128212001 {source="DOID:0060160"}
xref: SCTID:155016008 {source="DOID:0060160", source="DOID:13137"}
xref: SCTID:267694009 {source="DOID:0060160", source="DOID:13137"}
xref: SCTID:54280009 {source="DOID:0060160"}
xref: SCTID:64383006 {source="MONDO:equivalentTo", source="DOID:0060160", source="DOID:13137"}
xref: UMLS:C0043116 {source="MEDGEN:21913", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DOID:0060160", source="DOID:13137/inferred", source="MONDO:Redundant", source="NCIT:C98670"} ! spinal muscular atrophy
is_a: MONDO:0019079 {source="Orphanet:83330"} ! proximal spinal muscular atrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="MONDO:mim2gene_medgen"} ! SMN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6462" xsd:anyURI

[Term]
id: MONDO:0009670
name: lethal congenital contracture syndrome 1
def: "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." [Orphanet:1486]
subset: gard_rare {source="GARD:3227", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1486"}
subset: ordo_malformation_syndrome {source="Orphanet:1486"}
subset: orphanet_rare {source="Orphanet:1486"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GLE1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Herva disease" EXACT [Orphanet:1486]
synonym: "Lccs" RELATED [OMIM:253310]
synonym: "LCCS1" EXACT ABBREVIATION [DOID:0060559, MONDO:Lexical, OMIM:253310, Orphanet:1486]
synonym: "lethal autosomal recessive syndrome of multiple congenital contractures" RELATED [GARD:0003227]
synonym: "lethal congenital contracture syndrome 1" EXACT [MONDO:Lexical, OMIM:253310]
synonym: "lethal congenital contracture syndrome caused by mutation in GLE1" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 1" EXACT [DOID:0060559, MONDORULE:1, OMIM:253310]
synonym: "multiple contracture syndrome, Finnish type" EXACT [DOID:0060559, OMIM:253310, Orphanet:1486]
xref: DOID:0060559 {source="MONDO:equivalentTo"}
xref: GARD:3227 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:1486", source="Orphanet:1486/attributed", source="Orphanet:1486/ntbt"}
xref: MEDGEN:344338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537194 {source="Orphanet:1486", source="MONDO:equivalentTo", source="Orphanet:1486/e", source="DOID:0060559"}
xref: OMIM:253310 {source="Orphanet:1486", source="MONDO:equivalentTo", source="Orphanet:1486/e", source="DOID:0060559"}
xref: Orphanet:1486 {source="MONDO:equivalentTo", source="OMIM:253310", source="DOID:0060559"}
xref: SCTID:715418007 {source="MONDO:equivalentTo"}
xref: UMLS:C1854664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344338"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1486"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015929 {source="Orphanet:1486"} ! thoracic malformation
is_a: MONDO:0017436 {source="DC-OMIM:253310", source="DOID:0060559", source="MONDO:Redundant", source="OMIM:253310", source="Orphanet:1486"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4315 ! GLE1
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1486", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4315 {source="MONDO:mim2gene_medgen"} ! GLE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009671
name: intellectual disability-myopathy-short stature-endocrine defect syndrome
def: "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." [Orphanet:3068]
subset: gard_rare {source="GARD:1358", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3068"}
subset: orphanet_rare {source="Orphanet:3068"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chudley Rozdilsky syndrome" RELATED [GARD:0001358]
synonym: "Chudley syndrome" RELATED [OMIM:253320]
synonym: "Chudley-Rozdilsky syndrome" EXACT [Orphanet:3068]
synonym: "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" RELATED [OMIM:253320]
synonym: "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" RELATED DEPRECATED [OMIM:253320]
xref: GARD:1358 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3068", source="Orphanet:3068/attributed", source="Orphanet:3068/ntbt"}
xref: MEDGEN:381471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535458 {source="MONDO:equivalentTo"}
xref: OMIM:253320 {source="Orphanet:3068", source="MONDO:equivalentTo", source="Orphanet:3068/e"}
xref: Orphanet:3068 {source="MONDO:equivalentTo", source="OMIM:253320"}
xref: SCTID:764959000 {source="MONDO:equivalentTo"}
xref: UMLS:C1854663 {source="MEDGEN:381471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="Orphanet:3068", source="https://orcid.org/0000-0001-5208-3432"} ! congenital myopathy
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3068", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009672
name: spinal muscular atrophy, type III
def: "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83419]
subset: gard_rare {source="GARD:198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1342"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:83419"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood spinal muscular atrophy" BROAD [MONDO:design_pattern]
synonym: "juvenile spinal muscular atrophy" BROAD [Orphanet:83419]
synonym: "Kugelberg Welander Syndrome" EXACT [NORD:1342]
synonym: "Kugelberg-Welander disease" EXACT [DOID:12376, ICD9CM:335.11, Orphanet:83419]
synonym: "Kugelberg-Welander syndrome" RELATED [GARD:0000198, OMIM:253400]
synonym: "KWS" RELATED ABBREVIATION [GARD:0000198]
synonym: "muscular atrophy, juvenile" RELATED [GARD:0000198, OMIM:253400]
synonym: "paediatric spinal muscular atrophy" RELATED OMO:0003005 []
synonym: "pediatric spinal muscular atrophy" RELATED [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "proximal spinal muscular atrophy type 3" RELATED [Orphanet:83419]
synonym: "SMA 3" RELATED [GARD:0000198]
synonym: "Sma 3" RELATED [OMIM:253400]
synonym: "SMA type 3" EXACT [Orphanet:83419]
synonym: "SMA type III" EXACT [Orphanet:83419]
synonym: "SMA-III" EXACT [Orphanet:83419]
synonym: "SMA3" EXACT ABBREVIATION [DOID:12376, GARD:0000198, MONDO:Lexical, OMIM:253400, Orphanet:83419]
synonym: "spinal muscular atrophy III" EXACT [NCIT:C118847]
synonym: "spinal muscular atrophy of childhood" RELATED [DOID:12376, MONDO:patterns/childhood]
synonym: "spinal muscular atrophy type 3" EXACT [NCIT:C118847]
synonym: "spinal muscular atrophy, familial" EXACT [DOID:12376]
synonym: "spinal muscular atrophy, mild childhood and adolescent form" RELATED [GARD:0000198, OMIM:253400]
synonym: "spinal muscular atrophy, type 3" RELATED [OMIM:253400]
synonym: "spinal muscular atrophy, type III" EXACT [OMIM:253400]
synonym: "spinal muscular atrophy, type III, modifier of" EXACT [OMIM:253400, OMIM:genemap2]
synonym: "spinal muscular atrophy-3" EXACT [OMIM:253400, OMIM:genemap2]
synonym: "type III spinal muscular atrophy" EXACT [DOID:12376]
xref: DOID:12376 {source="MONDO:equivalentTo"}
xref: GARD:198 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:83419/ntbt", source="Orphanet:83419/inclusion", source="Orphanet:83419"}
xref: icd11.foundation:677572815 {source="MONDO:equivalentTo", source="Orphanet:83419", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:335.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12376"}
xref: MEDGEN:101816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014897 {source="DOID:12376"}
xref: NANDO:1200006 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118847 {source="MONDO:equivalentTo", source="DOID:12376"}
xref: NCIT:C85076 {source="DOID:12376"}
xref: NORD:1342 {source="MONDO:NORD"}
xref: OMIM:253400 {source="GARD:0000198", source="Orphanet:83419/e", source="MONDO:equivalentTo", source="Orphanet:83419", source="DOID:12376"}
xref: Orphanet:70 {source="OMIM:253400"}
xref: Orphanet:83419 {source="GARD:0000198", source="MONDO:equivalentTo", source="OMIM:253400"}
xref: SCTID:54280009 {source="MONDO:equivalentTo", source="DOID:12376"}
xref: UMLS:C0152109 {source="MEDGEN:101816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DOID:12376/inferred", source="MONDO:Redundant", source="NCIT:C118847"} ! spinal muscular atrophy
is_a: MONDO:0019079 {source="Orphanet:83419"} ! proximal spinal muscular atrophy
is_a: MONDO:0024237 {source="MONDO:indirect"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="OMIM:253400"} ! SMN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6462" xsd:anyURI

[Term]
id: MONDO:0009673
name: spinal muscular atrophy, type II
def: "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83418]
subset: gard_rare {source="GARD:4945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:83418"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic infantile spinal muscular atrophy" EXACT [Orphanet:83418]
synonym: "chronic spinal muscular atrophy" EXACT [Orphanet:83418]
synonym: "Dubowitz disease" RELATED [GARD:0004945]
synonym: "Intermediate spinal muscular atrophy" EXACT [Orphanet:83418]
synonym: "muscular atrophy, spinal, infantile chronic form" EXACT [DOID:0050530, OMIM:253550]
synonym: "muscular atrophy, spinal, Intermediate type" RELATED [OMIM:253550]
synonym: "muscular atrophy, spinal, intermediate type" EXACT [DOID:0050530]
synonym: "proximal spinal muscular atrophy type 2" RELATED [Orphanet:83418]
synonym: "Sma 2" RELATED [OMIM:253550]
synonym: "SMA II" RELATED [GARD:0004945]
synonym: "SMA type 2" EXACT [Orphanet:83418]
synonym: "SMA type II" EXACT [Orphanet:83418]
synonym: "SMA-II" EXACT [Orphanet:83418]
synonym: "SMA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253550, Orphanet:83418]
synonym: "spinal muscular atrophy type 2" RELATED [GARD:0004945]
synonym: "spinal muscular atrophy type II" RELATED [GARD:0004945]
synonym: "spinal muscular atrophy, type 2" RELATED [OMIM:253550]
synonym: "spinal muscular atrophy, type II" EXACT [OMIM:253550]
synonym: "spinal muscular atrophy-2" EXACT [OMIM:253550, OMIM:genemap2]
xref: DOID:0050530 {source="MONDO:equivalentTo"}
xref: GARD:4945 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:83418/inclusion", source="Orphanet:83418/ntbt", source="Orphanet:83418"}
xref: icd11.foundation:867148636 {source="MONDO:equivalentTo", source="Orphanet:83418", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:95975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536879 {source="MONDO:equivalentTo"}
xref: NANDO:1200005 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:253550 {source="DOID:0050530", source="Orphanet:83418/e", source="MONDO:equivalentTo", source="Orphanet:83418"}
xref: Orphanet:70 {source="OMIM:253550"}
xref: Orphanet:83418 {source="MONDO:equivalentTo", source="OMIM:253550"}
xref: SCTID:128212001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393538 {source="MEDGEN:95975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019079 {source="Orphanet:83418"} ! proximal spinal muscular atrophy
is_a: MONDO:0024237 {source="MONDO:indirect"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="MONDO:mim2gene_medgen"} ! SMN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009674
name: muscular dystrophy, adult-onset, with leukoencephalopathy
synonym: "muscular dystrophy, adult-onset, with leukoencephalopathy" EXACT [OMIM:253590]
xref: MEDGEN:340269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565361 {source="MONDO:equivalentTo"}
xref: OMIM:253590 {source="MONDO:equivalentTo"}
xref: UMLS:C1854646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340269"}
is_a: MONDO:0003847 {source="MESH:C565361/inferred"} ! hereditary disease

[Term]
id: MONDO:0009675
name: autosomal recessive limb-girdle muscular dystrophy type 2A
def: "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." [Orphanet:267]
subset: gard_rare {source="GARD:1057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:267"}
subset: orphanet_rare {source="Orphanet:267"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy type 2A" EXACT CLINGEN_LABEL []
synonym: "calpainopathy" EXACT [OMIM:253600]
synonym: "CAPN3 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Leyden-Moebius muscular dystrophy" EXACT [DOID:0110275]
synonym: "LGMD2" RELATED ABBREVIATION [GARD:0001057]
synonym: "LGMD2A" EXACT ABBREVIATION [DOID:0110275, MONDO:Lexical, OMIM:253600, Orphanet:267]
synonym: "limb-girdle muscular dystrophy due to calpain deficiency" EXACT [DOID:0110275, Orphanet:267]
synonym: "limb-girdle muscular dystrophy type 2" RELATED [GARD:0001057]
synonym: "limb-girdle muscular dystrophy type 2A" EXACT [NCIT:C142079]
synonym: "muscular dystrophy limb girdle type 2A, erb type" RELATED [GARD:0003845]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 1" EXACT [OMIM:253600, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2" RELATED [OMIM:253600]
synonym: "muscular dystrophy, limb-girdle, type 2A" EXACT [DOID:0110275, MONDO:Lexical, OMIM:253600]
synonym: "muscular dystrophy, Pelvofemoral" RELATED [OMIM:253600]
synonym: "myositis, eosinophilic" RELATED [OMIM:253600]
synonym: "pelvofemoral muscular dystrophy" EXACT [DOID:0110275]
synonym: "primary calpainopathy" EXACT [DOID:0110275, Orphanet:267]
xref: DOID:0110275 {source="MONDO:equivalentTo"}
xref: GARD:1057 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:267/attributed", source="Orphanet:267/ntbt", source="DOID:0110275", source="Orphanet:267"}
xref: MEDGEN:358391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535895 {source="MONDO:equivalentTo"}
xref: NCIT:C142079 {source="MONDO:equivalentTo"}
xref: OMIM:253600 {source="Orphanet:267/e", source="MONDO:equivalentTo", source="DOID:0110275", source="Orphanet:267"}
xref: Orphanet:267 {source="MONDO:equivalentTo", source="DOID:0110275", source="OMIM:253600"}
xref: SCTID:715341003 {source="MONDO:equivalentTo"}
xref: UMLS:C1869123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358391"}
is_a: MONDO:0015152 {source="DOID:0110275", source="MONDO:Redundant", source="OMIM:253600", source="Orphanet:267"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016971 {source="DOID:0110275/inferred", source="MESH:C535895", source="MONDO:Redundant", source="NCIT:C142079", source="Orphanet:267/inferred"} ! limb-girdle muscular dystrophy
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1480 ! CAPN3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1480 {source="MONDO:mim2gene_medgen"} ! CAPN3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009676
name: autosomal recessive limb-girdle muscular dystrophy type 2B
def: "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." [Orphanet:268]
subset: gard_rare {source="GARD:8574", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268"}
subset: orphanet_rare {source="Orphanet:268"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" EXACT [MONDO:design_pattern]
synonym: "DYSF autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2B" EXACT ABBREVIATION [DOID:0110276, MONDO:Lexical, OMIM:253601, Orphanet:268]
synonym: "LGMD3" EXACT ABBREVIATION [DOID:0110276]
synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT [DOID:0110276, Orphanet:268]
synonym: "limb-girdle muscular dystrophy type 2B" EXACT [NCIT:C142080]
synonym: "limb-girdle muscular dystrophy type 3" EXACT [DOID:0110276]
synonym: "limb-girdle muscular dystrophy, type 2B" RELATED [GARD:0008574]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 2" EXACT [OMIM:253601, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2B" RELATED [MONDO:Lexical, OMIM:253601]
synonym: "muscular dystrophy, limb-girdle, type 3" RELATED [OMIM:253601]
xref: DOID:0110276 {source="MONDO:equivalentTo"}
xref: GARD:8574 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:268", source="Orphanet:268/ntbt", source="Orphanet:268/inclusion", source="DOID:0110276"}
xref: MEDGEN:338149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535899 {source="MONDO:equivalentTo"}
xref: NCIT:C142080 {source="MONDO:equivalentTo"}
xref: OMIM:253601 {source="Orphanet:268", source="MONDO:equivalentTo", source="Orphanet:268/e", source="DOID:0110276"}
xref: Orphanet:268 {source="MONDO:equivalentTo", source="DOID:0110276", source="OMIM:253601"}
xref: SCTID:718179003 {source="MONDO:equivalentTo"}
xref: UMLS:C1850889 {source="MEDGEN:338149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="DOID:0110276", source="MONDO:Redundant", source="OMIM:253601", source="Orphanet:268"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016145 {source="Orphanet:268"} ! qualitative or quantitative defects of dysferlin
is_a: MONDO:0016971 {source="DOID:0110276/inferred", source="MESH:C535899", source="MONDO:Redundant", source="NCIT:C142080", source="Orphanet:268/inferred"} ! limb-girdle muscular dystrophy
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 ! DYSF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="MONDO:mim2gene_medgen"} ! DYSF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009677
name: autosomal recessive limb-girdle muscular dystrophy type 2C
def: "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." [Orphanet:353]
subset: gard_rare {source="GARD:2429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:353"}
subset: orphanet_rare {source="Orphanet:353"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adhalin deficiency, secondary" RELATED [OMIM:253700]
synonym: "autosomal recessive Duchenne-like muscular dystrophy type 1" EXACT [DOID:0110277]
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy type 2C" EXACT CLINGEN_LABEL []
synonym: "deficiency of sarcoglycan gamma" EXACT [DOID:0110277]
synonym: "Dmda" RELATED [OMIM:253700]
synonym: "DMDA1" EXACT ABBREVIATION [DOID:0110277]
synonym: "Duchenne-like muscular dystrophy, autosomal recessive, type 1" RELATED [OMIM:253700]
synonym: "gamma-sarcoglycanopathy" EXACT [DOID:0110277, Orphanet:353]
synonym: "LGMD2C" EXACT ABBREVIATION [DOID:0110277, MONDO:Lexical, OMIM:253700, Orphanet:353]
synonym: "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" EXACT [DOID:0110277, Orphanet:353]
synonym: "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency" RELATED [GARD:0002429]
synonym: "limb-girdle muscular dystrophy, type 2C" RELATED [GARD:0002429]
synonym: "Maghrebian myopathy" EXACT [DOID:0110277]
synonym: "muscular dystrophy, Duchenne-like" RELATED [OMIM:253700]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 5" EXACT [OMIM:253700, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2C" EXACT [DOID:0110277, MONDO:Lexical, OMIM:253700]
synonym: "sarcoglycan, gamma, deficiency of" RELATED [OMIM:253700]
synonym: "SCARMD" EXACT ABBREVIATION [DOID:0110277]
synonym: "severe childhood autosomal recessive muscular dystrophy North African type" EXACT [DOID:0110277]
synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" RELATED [OMIM:253700]
synonym: "SGCG autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110277 {source="MONDO:equivalentTo"}
xref: GARD:2429 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:353/ntbt", source="Orphanet:353/inclusion", source="DOID:0110277", source="Orphanet:353"}
xref: MEDGEN:98045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535900 {source="MONDO:equivalentTo"}
xref: OMIM:253700 {source="Orphanet:353/e", source="MONDO:equivalentTo", source="DOID:0110277", source="Orphanet:353"}
xref: Orphanet:353 {source="MONDO:equivalentTo", source="DOID:0110277", source="OMIM:253700"}
xref: UMLS:C0410173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98045"}
is_a: MONDO:0015152 {source="DOID:0110277", source="MONDO:Redundant", source="OMIM:253700", source="Orphanet:353"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016143 {source="Orphanet:353"} ! qualitative or quantitative defects of gamma-sarcoglycan
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0019056 ! neuromuscular disease
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10809 ! SGCG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10809 {source="MONDO:mim2gene_medgen"} ! SGCG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009678
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
def: "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." [Orphanet:272]
subset: gard_rare {source="GARD:6475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1169"}
subset: ordo_disorder {source="Orphanet:272"}
subset: orphanet_rare {source="Orphanet:272"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy, Fukuyama type" RELATED [Orphanet:272]
synonym: "FCMD" EXACT ABBREVIATION [Orphanet:272]
synonym: "Fukuyama congenital muscular dystrophy" EXACT [OMIM:253800, Orphanet:272]
synonym: "Fukuyama Type Congenital Muscular Dystrophy" EXACT [NORD:1169]
synonym: "MDDGA4" EXACT ABBREVIATION [OMIM:253800]
synonym: "muscle-eye-brain-FKTN related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4" EXACT [NCIT:C126741]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" EXACT [OMIM:253800]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" EXACT [OMIM:253800]
xref: DOID:0050559 {source="MONDO:equivalentTo"}
xref: GARD:6475 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:272", source="Orphanet:272/attributed", source="Orphanet:272/ntbt"}
xref: MEDGEN:140820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200494 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200860 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126741 {source="MONDO:equivalentTo"}
xref: NORD:1169 {source="MONDO:NORD"}
xref: OMIM:253800 {source="MONDO:equivalentTo", source="DOID:0050559", source="Orphanet:272", source="Orphanet:272/ntbt"}
xref: Orphanet:272 {source="MONDO:equivalentTo", source="DOID:0050559", source="OMIM:253800"}
xref: Orphanet:588 {source="OMIM:253800"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:253800"}
xref: SCTID:111502003 {source="MONDO:equivalentTo"}
xref: UMLS:C0410174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140820"}
is_a: MONDO:0000171 {source="OMIM:253800", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease
is_a: MONDO:0020121 {source="DOID:0050559/inferred", source="NCIT:C126741", source="OMIM:253800/inferred", source="Orphanet:272/inferred"} ! muscular dystrophy
is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009679
name: arthrogryposis due to muscular dystrophy
subset: gard_rare {source="GARD:779", source="MONDO:GARD"}
subset: rare
synonym: "congenital muscular dystrophy producing arthrogryposis" EXACT [DOID:0110631]
synonym: "muscular dystrophy, congenital, producing arthrogryposis" RELATED [OMIM:253900]
xref: DOID:0110631 {source="MONDO:equivalentObsolete"}
xref: GARD:779 {source="MONDO:GARD"}
xref: ICD10CM:M62.8 {source="Orphanet:1155/attributed", source="Orphanet:1155/ntbt", source="Orphanet:1155", source="DOID:0110631"}
xref: MEDGEN:342608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564985 {source="MONDO:equivalentTo"}
xref: OMIM:253900 {source="Orphanet:1155", source="MONDO:equivalentObsolete", source="Orphanet:1155/e", source="DOID:0110631"}
xref: Orphanet:1155 {source="OMIM:253900", source="MONDO:equivalentObsolete", source="DOID:0110631"}
xref: UMLS:C1850865 {source="MEDGEN:342608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015168 {source="Orphanet:1155"} ! arthrogryposis multiplex congenita
is_a: MONDO:0019950 {source="DOID:0110631", source="Orphanet:1155"} ! congenital muscular dystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy" xsd:anyURI {source="GARD:0000779"}

[Term]
id: MONDO:0009680
name: congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
def: "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive." [Orphanet:1875]
subset: gard_rare {source="GARD:835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1875"}
subset: orphanet_rare {source="Orphanet:1875"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bassoe syndrome" EXACT [Orphanet:1875]
synonym: "benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract" RELATED [GARD:0000835]
synonym: "familial congenital muscular dystrophy with gonadal dysgenesis" RELATED [GARD:0003842]
synonym: "muscular dystrophy, congenital, infantile with cataract and hypogonadism" RELATED [GARD:0003842]
synonym: "muscular dystrophy, congenital, with infantile cataract and hypogonadism" RELATED [OMIM:254000]
xref: GARD:835 {source="MONDO:GARD"}
xref: MEDGEN:376896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:254000 {source="MONDO:equivalentTo", source="Orphanet:1875", source="Orphanet:1875/e"}
xref: Orphanet:1875 {source="MONDO:equivalentTo", source="OMIM:254000"}
xref: UMLS:C1850864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376896"}
is_a: MONDO:0019950 {source="Orphanet:1875"} ! congenital muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009681
name: Ullrich congenital muscular dystrophy 1A
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "muscular dystrophy, Scleroatonic" RELATED [OMIM:254090]
synonym: "UCMD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254090]
synonym: "Ullrich congenital muscular dystrophy" RELATED [OMIM:254090]
synonym: "Ullrich congenital muscular dystrophy 1" EXACT [MONDO:Lexical, OMIM:254090]
synonym: "Ullrich congenital muscular dystrophy type 1" BROAD [MONDORULE:1, OMIM:254090]
synonym: "Ullrich disease" RELATED [OMIM:254090]
synonym: "Ullrich Scleroatonic muscular dystrophy" RELATED [OMIM:254090]
xref: DOID:0060946 {source="MONDO:equivalentTo"}
xref: MEDGEN:98046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200215 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:254090 {source="Orphanet:75840", source="MONDO:equivalentTo"}
xref: UMLS:C0410179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98046"}
is_a: MONDO:0000355 {source="DC-OMIM:254090", source="OMIM:254090"} ! Ullrich congenital muscular dystrophy
is_a: MONDO:0100225 {source="PMID:21691338", source="https://clinicalgenome.org/affiliation/40031/"} ! collagen 6-related myopathy

[Term]
id: MONDO:0009682
name: muscular dystrophy, congenital, with rapid progression
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "muscular dystrophy, congenital, with rapid progression" EXACT [OMIM:254100]
xref: MEDGEN:338135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564983 {source="MONDO:equivalentTo"}
xref: OMIM:254100 {source="MONDO:equivalentTo"}
xref: UMLS:C1850840 {source="MEDGEN:338135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019950 ! congenital muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009683
name: autosomal recessive limb-girdle muscular dystrophy type 2H
def: "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." [Orphanet:1878]
subset: gard_rare {source="GARD:3844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1878"}
subset: orphanet_rare {source="Orphanet:1878"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy type 2H" EXACT CLINGEN_LABEL []
synonym: "LGMD2H" EXACT ABBREVIATION [DOID:0110282, MONDO:Lexical, OMIM:254110, Orphanet:1878]
synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT [DOID:0110282, Orphanet:1878]
synonym: "limb-girdle muscular dystrophy type 2H" RELATED [GARD:0003844]
synonym: "muscular dystrophy Hutterite type" EXACT [DOID:0110282]
synonym: "muscular dystrophy limb-girdle type 2H" RELATED [GARD:0003844]
synonym: "muscular dystrophy, Hutterite type" RELATED [OMIM:254110]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 8" EXACT [OMIM:254110, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2H" RELATED [MONDO:Lexical, OMIM:254110]
synonym: "Sarcotubular myopathy" EXACT [Orphanet:1878]
synonym: "sarcotubular myopathy" EXACT [DOID:0110282]
synonym: "TRIM32 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110282 {source="MONDO:equivalentTo"}
xref: GARD:3844 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0110282", source="Orphanet:1878/inclusion", source="Orphanet:1878/ntbt", source="Orphanet:1878"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535897 {source="MONDO:equivalentTo"}
xref: OMIM:254110 {source="Orphanet:1878/e", source="DOID:0110282", source="MONDO:equivalentTo", source="Orphanet:1878"}
xref: Orphanet:1878 {source="DOID:0110282", source="MONDO:equivalentTo", source="OMIM:254110"}
xref: SCTID:43226001 {source="MONDO:equivalentTo"}
xref: UMLS:C0270968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78750"}
is_a: MONDO:0015152 {source="DOID:0110282", source="MONDO:Redundant", source="OMIM:254110", source="Orphanet:1878"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016153 {source="Orphanet:1878"} ! qualitative or quantitative defects of TRIM32
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 ! TRIM32
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 {source="MONDO:mim2gene_medgen"} ! TRIM32
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009684
name: muscular hypertonia, lethal
synonym: "muscular hypertonia, lethal" EXACT [OMIM:254120]
xref: MEDGEN:342600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564982 {source="MONDO:equivalentTo"}
xref: OMIM:254120 {source="MONDO:equivalentTo"}
xref: UMLS:C1850827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342600"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009685
name: Miyoshi myopathy
def: "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes." [Orphanet:45448]
subset: gard_rare {source="GARD:9676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:45448"}
subset: orphanet_rare {source="Orphanet:45448"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Miyoshi distal myopathy" EXACT [GARD:0009676]
synonym: "Miyoshi muscular dystrophy" EXACT [DOID:0070198]
synonym: "Miyoshi muscular dystrophy 1" NARROW [MONDO:Lexical, OMIM:254130]
synonym: "Miyoshi muscular dystrophy type 1" NARROW [MONDORULE:1, OMIM:254130]
synonym: "MM" EXACT ABBREVIATION [GARD:0009676]
synonym: "MMD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:254130]
synonym: "muscular dystrophy, distal, late onset, autosomal recessive" RELATED [GARD:0009676]
xref: DOID:0070198 {source="MONDO:equivalentTo"}
xref: GARD:9676 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:45448", source="Orphanet:45448/attributed", source="Orphanet:45448/ntbt"}
xref: MEDGEN:1790866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537480 {source="Orphanet:45448", source="DOID:0070198", source="MONDO:equivalentTo", source="Orphanet:45448/e"}
xref: NANDO:1200217 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118846 {source="MONDO:equivalentTo"}
xref: OMIMPS:254130 {source="DOID:0070198", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:45448 {source="DOID:0070198", source="OMIM:254130", source="MONDO:equivalentTo"}
xref: UMLS:C5553104 {source="MEDGEN:1790866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018949 {source="DC-OMIM:254130", source="MONDO:Redundant", source="OMIM:254130", source="Orphanet:45448/inferred"} ! distal myopathy
is_a: MONDO:0020121 {source="MESH:C537480/inferred", source="MONDO:Redundant", source="NCIT:C118846"} ! muscular dystrophy
relationship: excluded_subClassOf MONDO:0016145 {source="Orphanet:45448", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of dysferlin
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:254130"} ! inherited

[Term]
id: MONDO:0009686
name: musk, inability to smell
synonym: "musk, inability to smell" EXACT [OMIM:254150]
xref: MEDGEN:342594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564980 {source="MONDO:equivalentTo"}
xref: OMIM:254150 {source="MONDO:equivalentTo"}
xref: UMLS:C1850807 {source="MEDGEN:342594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009687
name: myasthenia, congenital, refractory to acetylcholinesterase inhibitors
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" EXACT [OMIM:254190]
xref: MEDGEN:338127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564979 {source="MONDO:equivalentTo"}
xref: OMIM:254190 {source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:254190"}
xref: UMLS:C1850806 {source="MEDGEN:338127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="MESH:C564979"} ! congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009688
name: myasthenia gravis
def: "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." [Orphanet:589]
subset: gard_rare {source="GARD:7122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1478"}
subset: ordo_disorder {source="Orphanet:589"}
subset: orphanet_rare {source="Orphanet:589"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired myasthenia" EXACT [Orphanet:589]
synonym: "autoimmune myasthenia gravis" EXACT [Orphanet:589]
synonym: "MG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254200]
synonym: "myasthenia gravis" EXACT [MONDO:Lexical, NCIT:C60989, OMIM:254200]
xref: DOID:437 {source="EFO:0004991", source="MONDO:equivalentTo"}
xref: EFO:0004991 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7122 {source="MONDO:GARD"}
xref: ICD10CM:G70.0 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"}
xref: ICD10CM:G70.00 {source="DOID:437"}
xref: icd11.foundation:1270100227 {source="Orphanet:589", source="MONDO:equivalentTo"}
xref: ICD9:358.0 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:358.00 {source="DOID:437", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10028417 {source="Orphanet:589", source="Orphanet:589/e"}
xref: MEDGEN:7764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009157 {source="EFO:0004991", source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"}
xref: NANDO:1200020 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100252 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200906 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C60989 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1478 {source="MONDO:NORD"}
xref: OMIM:254200 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"}
xref: Orphanet:589 {source="MONDO:equivalentTo", source="OMIM:254200"}
xref: SCTID:155092009 {source="DOID:437"}
xref: SCTID:193208002 {source="DOID:437"}
xref: SCTID:91637004 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo"}
xref: UMLS:C0026896 {source="MEDGEN:7764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000590 {source="DOID:437", source="MONDO:Entailed", source="MONDO:indirect"} ! autoimmune disorder of peripheral nervous system
is_a: MONDO:0002977 {source="DOID:437/inferred", source="MESH:D009157", source="MONDO:Redundant", source="NCIT:C60989"} ! autoimmune disorder of the nervous system
relationship: disease_has_basis_in_disruption_of GO:0022848 ! acetylcholine-gated monoatomic cation-selective channel activity
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis" xsd:anyURI {source="GARD:0007122"}

[Term]
id: MONDO:0009689
name: congenital myasthenic syndrome 6
def: "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." [NCIT:C132292]
subset: gard_rare {source="GARD:9689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHAT congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS Ia2" EXACT [DOID:0110671]
synonym: "Cms Ia2" RELATED [OMIM:254210]
synonym: "CMS Ia2, formerly" RELATED [MESH:C535759]
synonym: "Cms Ia2, formerly" RELATED [OMIM:254210]
synonym: "CMS w/episodic apnea" RELATED [GARD:0009689]
synonym: "CMS-ea" RELATED [GARD:0009689]
synonym: "CMS1A" RELATED ABBREVIATION [GARD:0009689]
synonym: "CMS1A2" EXACT ABBREVIATION [DOID:0110671]
synonym: "CMS1A2, formerly" RELATED [MESH:C535759]
synonym: "CMS6" EXACT ABBREVIATION [DOID:0110671]
synonym: "CMSEA" EXACT ABBREVIATION [DOID:0110671]
synonym: "congenital myasthenic syndrome 6" EXACT CLINGEN_LABEL []
synonym: "congenital myasthenic syndrome 6, presynaptic" EXACT [DOID:0110671]
synonym: "congenital myasthenic syndrome caused by mutation in CHAT" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 1a" RELATED [GARD:0009689, MESH:C535759]
synonym: "congenital myasthenic syndrome type 6" EXACT [DOID:0110671, MONDORULE:1]
synonym: "congenital myasthenic syndrome type Ia" RELATED [MESH:C535759]
synonym: "congenital myasthenic syndrome type Ia2" EXACT [DOID:0110671, OMIM:254210]
synonym: "congenital myasthenic syndrome type Ia2, formerly" RELATED [MESH:C535759, OMIM:254210]
synonym: "congenital myasthenic syndrome with episodic apnea" RELATED [GARD:0009689]
synonym: "congenital presynaptic myasthenic syndrome associated with episodic apnea" EXACT [DOID:0110671]
synonym: "familial infantile myasthenia" EXACT [DOID:0110671]
synonym: "familial infantile myasthenia gravis 2" EXACT [DOID:0110671]
synonym: "FIM" EXACT ABBREVIATION [DOID:0110671, GARD:0009689]
synonym: "FIM, formerly" RELATED [MESH:C535759]
synonym: "FIMG2" EXACT ABBREVIATION [DOID:0110671]
synonym: "FIMG2 (formerly)" RELATED [GARD:0009689]
synonym: "FIMG2, formerly" RELATED [MESH:C535759]
synonym: "myasthenia familial infantile" RELATED [GARD:0009689, MESH:C535759]
synonym: "myasthenia gravis familial infantile 2 (formerly)" RELATED [GARD:0009689]
synonym: "myasthenia gravis, familial infantile, 2" RELATED [OMIM:254210]
synonym: "myasthenia gravis, familial infantile, 2, formerly" RELATED [MESH:C535759, OMIM:254210]
synonym: "myasthenia, familial infantile" RELATED [MESH:C535759, OMIM:254210]
synonym: "myasthenia, familial infantile, formerly" RELATED [MESH:C535759, OMIM:254210]
synonym: "myasthenic syndrome congenital associated with episodic apnea" RELATED [GARD:0009689, MESH:C535759]
synonym: "myasthenic syndrome, congenital, 6, presynaptic" RELATED [MESH:C535759, MONDO:Lexical, OMIM:254210]
synonym: "myasthenic syndrome, congenital, associated with episodic apnea" RELATED [MESH:C535759]
synonym: "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea" RELATED [GARD:0009689, MESH:C535759, OMIM:254210]
synonym: "presynaptic congenital myasthenic syndrome 6" EXACT [NCIT:C132292]
xref: DOID:0110671 {source="MONDO:equivalentTo"}
xref: GARD:9689 {source="MONDO:GARD"}
xref: ICD9:358.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535759 {source="MONDO:equivalentTo"}
xref: NANDO:1201057 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C132292 {source="MONDO:equivalentTo"}
xref: OMIM:254210 {source="MONDO:equivalentTo", source="DOID:0110671", source="GARD:0009689"}
xref: Orphanet:590 {source="OMIM:254210"}
xref: Orphanet:98914 {source="OMIM:254210", source="GARD:0009689"}
xref: SCTID:230670003 {source="MONDO:equivalentTo"}
xref: UMLS:C0393929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140751"}
is_a: MONDO:0018940 {source="DOID:0110671", source="MONDO:0009689/inferred", source="MONDO:Redundant", source="NCIT:C132292", source="OMIM:254210"} ! congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1912 ! CHAT
relationship: excluded_subClassOf MONDO:0009688 {source="MESH:C535759", source="https://orcid.org/0000-0001-5208-3432"} ! myasthenia gravis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1912 {source="MONDO:mim2gene_medgen"} ! CHAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea" xsd:anyURI {source="GARD:0009689"}

[Term]
id: MONDO:0009690
name: congenital myasthenic syndrome 10
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS Ib" RELATED [DOID:0110668]
synonym: "Cms Ib" RELATED [OMIM:254300]
synonym: "Cms Ib, formerly" RELATED [OMIM:254300]
synonym: "CMS10" EXACT ABBREVIATION [DOID:0110668, MONDO:Lexical, OMIM:254300]
synonym: "CMS1B" RELATED ABBREVIATION [DOID:0110668]
synonym: "congenital muscular dystrophy merosin-positive" EXACT [MONDO:0012279]
synonym: "congenital myasthenic syndrome 10" EXACT CLINGEN_LABEL []
synonym: "congenital myasthenic syndrome caused by mutation in DOK7" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 10" EXACT [DOID:0110668, MONDORULE:2]
synonym: "congenital myasthenic syndrome type IB" RELATED [DOID:0110668, OMIM:254300]
synonym: "congenital myasthenic syndrome type IB, formerly" RELATED [OMIM:254300]
synonym: "DOK7 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial limb-girdle myasthenia" EXACT [DOID:0110668]
synonym: "LGM" EXACT ABBREVIATION [DOID:0110668]
synonym: "muscular dystrophy, congenital, merosin-POSITIVE" RELATED [OMIM:609456]
synonym: "myasthenia, limb-girdle, familial" RELATED [OMIM:254300]
synonym: "myasthenia, limb-girdle, familial, formerly" RELATED [OMIM:254300]
synonym: "myasthenic myopathy" RELATED [OMIM:254300]
synonym: "myasthenic myopathy, formerly" RELATED [OMIM:254300]
synonym: "myasthenic syndrome, congenital, 10" RELATED [MONDO:Lexical, OMIM:254300]
synonym: "myasthenic syndrome, congenital, type 10" EXACT [MONDORULE:2, OMIM:254300]
xref: DOID:0110638 {source="MONDO:equivalentObsolete"}
xref: DOID:0110668 {source="MONDO:equivalentTo"}
xref: GARD:15206 {source="MONDO:GARD"}
xref: ICD9:358.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:376880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563716 {source="MONDO:equivalentTo"}
xref: OMIM:254300 {source="DOID:0110668", source="MONDO:equivalentTo"}
xref: OMIM:609456 {source="MONDO:equivalentObsolete", source="DOID:0110638"}
xref: Orphanet:590 {source="OMIM:254300"}
xref: Orphanet:98913 {source="OMIM:254300"}
xref: SCTID:230687001 {source="MONDO:equivalentTo"}
xref: UMLS:C1850792 {source="MEDGEN:376880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110668", source="MONDO:Redundant", source="OMIM:254300"} ! congenital myasthenic syndrome
is_a: MONDO:0019950 {source="DOID:0110638"} ! congenital muscular dystrophy
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26594 ! DOK7
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26594 {source="MONDO:mim2gene_medgen"} ! DOK7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6205" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive" xsd:anyURI {source="GARD:0003855"}

[Term]
id: MONDO:0009691
name: mycosis fungoides
def: "Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors." [Orphanet:2584]
subset: gard_rare {source="GARD:3863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1479"}
subset: ordo_disorder {source="Orphanet:2584"}
subset: orphanet_rare {source="Orphanet:2584"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alibert-Bazin syndrome" RELATED [GARD:0003863]
synonym: "classic mycosis fungoides" RELATED [Orphanet:2584]
synonym: "CTCL/ mycosis fungoides" EXACT [NCIT:C3246]
synonym: "cutaneous T-cell lymphoma/mycosis fungoides" EXACT [NCIT:C3246]
synonym: "granuloma fungoides" RELATED [GARD:0003863]
synonym: "MF" EXACT ABBREVIATION [DOID:8691, NCIT:C3246]
synonym: "mycosis fungoides" EXACT [DOID:8691, MTH:U002093, OMIM:254400]
synonym: "mycosis fungoides (morphologic abnormality)" EXACT [DOID:8691]
synonym: "mycosis fungoides lymphoma" EXACT [DOID:8691]
synonym: "mycosis fungoides NOS (morphologic abnormality)" EXACT [DOID:8691]
synonym: "mycosis fungoides of unspecified site" EXACT [DOID:8691]
synonym: "mycosis fungoides, Alibert-Bazin type" EXACT [Orphanet:2584]
synonym: "mycosis fungoides, unspecified site, extranodal and solid organ sites" EXACT [DOID:8691]
xref: DOID:8691 {source="MONDO:equivalentTo", source="EFO:1001051"}
xref: EFO:1001051 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3863 {source="MONDO:GARD"}
xref: ICD10CM:C84.0 {source="Orphanet:2584", source="Orphanet:2584/ntbt", source="MONDO:equivalentTo", source="DOID:8691"}
xref: ICD10CM:C84.00 {source="DOID:8691"}
xref: ICD9:202.1 {source="DOID:8691", source="EFO:1001051"}
xref: ICDO:9700/3 {source="NCIT:C3246"}
xref: MedDRA:10028483 {source="EFO:1001051"}
xref: MEDGEN:7771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009182 {source="MONDO:equivalentTo", source="DOID:8691", source="EFO:1001051"}
xref: NCIT:C3246 {source="MONDO:equivalentTo", source="DOID:8691", source="MONDO:exact-label-match", source="EFO:1001051"}
xref: NORD:1479 {source="MONDO:NORD"}
xref: OMIM:254400 {source="Orphanet:2584", source="MONDO:equivalentTo", source="Orphanet:2584/e", source="DOID:8691"}
xref: ONCOTREE:MYCF {source="MONDO:equivalentTo"}
xref: Orphanet:2584 {source="MONDO:equivalentTo", source="OMIM:254400"}
xref: SCTID:118618005 {source="MONDO:equivalentTo", source="DOID:8691"}
xref: SCTID:188618003 {source="DOID:8691"}
xref: SCTID:188628007 {source="DOID:8691"}
xref: SCTID:190003004 {source="DOID:8691"}
xref: SCTID:190004005 {source="DOID:8691"}
xref: SCTID:90120004 {source="DOID:8691", source="EFO:1001051"}
xref: UMLS:C0026948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7771"}
is_a: MONDO:0000607 {source="DOID:8691", source="EFO:1001051", source="MESH:D009182", source="NCIT:C3246"} ! primary cutaneous T-cell non-Hodgkin lymphoma
is_a: MONDO:0015821 {source="Orphanet:2584"} ! mycosis fungoides and variants
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3863/mycosis-fungoides" xsd:anyURI {source="GARD:0003863"}

[Term]
id: MONDO:0009692
name: primary myelofibrosis
def: "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." [Orphanet:824]
subset: gard_rare {source="GARD:8618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1611"}
subset: ordo_disorder {source="Orphanet:824"}
subset: orphanet_rare {source="Orphanet:824"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Agnogenic myeloid metaplasia" EXACT [DOID:4971, Orphanet:824]
synonym: "aleukemic myelosis" EXACT [DOID:4971]
synonym: "AMM" EXACT ABBREVIATION [NCIT:C2862]
synonym: "bone marrow fibrosis" EXACT [DOID:4971, NCIT:C36212]
synonym: "chronic idiopathic myelofibrosis" EXACT [NCIT:C2862]
synonym: "CIMF" EXACT ABBREVIATION [NCIT:C2862]
synonym: "idiopathic bone marrow fibrosis" EXACT [NCIT:C2862]
synonym: "idiopathic myelofibrosis" EXACT [Orphanet:824]
synonym: "megakaryocytic myelosclerosis" EXACT [DOID:4971]
synonym: "myelofibrosis" RELATED [OMIM:254450]
synonym: "myelofibrosis with myeloid metaplasia" NARROW [OMIM:254450, Orphanet:824]
synonym: "myelofibrosis with myeloid metaplasia, somatic" EXACT [OMIM:254450, OMIM:genemap2]
synonym: "myelofibrosis, somatic" EXACT [OMIM:254450, OMIM:genemap2]
synonym: "myeloid metaplasia" RELATED [GARD:0008618]
synonym: "myelosclerosis" EXACT [DOID:4971]
synonym: "myelosclerosis with myeloid metaplasia" EXACT [NCIT:C2862]
synonym: "osteomyelofibrosis" EXACT [Orphanet:824]
synonym: "primary myelofibrosis" EXACT [DOID:4971]
xref: DOID:4971 {source="MONDO:equivalentTo"}
xref: EFO:0002430 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8618 {source="MONDO:GARD"}
xref: ICD10CM:D47.4 {source="DOID:4971", source="Orphanet:824", source="Orphanet:824/ntbt"}
xref: ICD10CM:D75.81 {source="DOID:4971"}
xref: icd11.foundation:336704235 {source="MONDO:equivalentTo", source="Orphanet:824"}
xref: ICD9:238.76 {source="DOID:4971"}
xref: ICD9:289.83 {source="DOID:4971"}
xref: ICDO:9961/3 {source="NCIT:C2862"}
xref: MEDGEN:7929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055728 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo"}
xref: NCIT:C2862 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo"}
xref: NCIT:C3248 {source="DOID:4971"}
xref: NORD:1611 {source="MONDO:NORD"}
xref: OMIM:254450 {source="DOID:4971", source="EFO:0002430", source="MONDO:equivalentTo", source="Orphanet:824", source="Orphanet:824/e"}
xref: ONCOTREE:PMF {source="MONDO:equivalentTo"}
xref: Orphanet:824 {source="OMIM:254450", source="MONDO:equivalentTo"}
xref: SCTID:128843003 {source="DOID:4971"}
xref: SCTID:154841009 {source="DOID:4971"}
xref: SCTID:188773009 {source="DOID:4971"}
xref: SCTID:22265001 {source="DOID:4971"}
xref: SCTID:267572005 {source="DOID:4971"}
xref: SCTID:307651005 {source="DOID:4971"}
xref: SCTID:52967002 {source="DOID:4971"}
xref: SCTID:78956007 {source="DOID:4971"}
xref: UMLS:C0001815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7929"}
is_a: MONDO:0015610 {source="Orphanet:824"} ! acquired aplastic anemia
is_a: MONDO:0020076 {source="EFO:0002430", source="NCIT:C2862", source="ONCOTREE:PMF", source="Orphanet:824"} ! myeloproliferative neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009693
name: plasma cell myeloma
def: "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" [NCIT:C3242]
subset: gard_rare {source="GARD:7108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1469"}
subset: ordo_disorder {source="Orphanet:29073"}
subset: orphanet_rare {source="Orphanet:29073"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Al amyloidosis" RELATED [OMIM:254500]
synonym: "amyloidosis, systemic" RELATED [OMIM:254500]
synonym: "Kahler disease" EXACT [NCIT:C3242]
synonym: "Kahler's disease" EXACT [Orphanet:29073]
synonym: "medullary plasmacytoma" EXACT [Orphanet:29073]
synonym: "Multiple Myeloma" EXACT [NORD:1469]
synonym: "multiple myeloma" EXACT [NCIT:C3242]
synonym: "multiple myeloma, resistance to, Somatic mutation" EXACT [OMIM:254500, OMIM:genemap2]
synonym: "multiple myeloma, susceptibility to, Somatic mutation" EXACT [OMIM:254500, OMIM:genemap2]
synonym: "multiple myeloma/plasma cell myeloma" EXACT [NCIT:C3242]
synonym: "myeloid neoplasm of plasma cell" EXACT [MONDO:design_pattern]
synonym: "myeloma" EXACT [NCIT:C3242]
synonym: "myeloma - multiple" RELATED [GARD:0007108]
synonym: "myeloma, multiple" EXACT [OMIM:254500]
synonym: "myeloma, NOS" RELATED EXCLUDE [NCIT:C3242]
synonym: "myeloma, plasma cell, malignant" EXACT [NCIT:C3242]
synonym: "myelomatosis" EXACT [NCIT:C3242, Orphanet:29073]
synonym: "plasma cell myeloid neoplasm" EXACT [MONDO:patterns/location]
synonym: "plasma cell myeloma" EXACT [DOID:9538, NCIT:C3242, Orphanet:29073]
xref: DOID:9538 {source="MONDO:equivalentTo", source="EFO:0001378"}
xref: EFO:0001378 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7108 {source="MONDO:GARD"}
xref: ICD10CM:C90.0 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e"}
xref: ICD10CM:C90.00 {source="DOID:9538"}
xref: icd11.foundation:526287100 {source="Orphanet:29073", source="MONDO:equivalentTo"}
xref: ICD9:203.0 {source="DOID:9538", source="EFO:0001378"}
xref: ICDO:9732/3 {source="NCIT:C3242"}
xref: MedDRA:10028228 {source="Orphanet:29073", source="Orphanet:29073/e"}
xref: MEDGEN:10122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009101 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e", source="EFO:0001378"}
xref: NCIT:C3242 {source="DOID:9538", source="MONDO:equivalentTo", source="EFO:0001378"}
xref: NORD:1469 {source="MONDO:NORD"}
xref: OMIM:254500 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e"}
xref: ONCOTREE:PCM {source="MONDO:equivalentTo"}
xref: Orphanet:29073 {source="MONDO:equivalentTo", source="OMIM:254500"}
xref: Orphanet:314701 {source="MONDO:relatedTo", source="OMIM:254500"}
xref: Orphanet:85443 {source="MONDO:relatedTo", source="OMIM:254500"}
xref: SCTID:109989006 {source="DOID:9538", source="EFO:0001378"}
xref: SCTID:154585004 {source="DOID:9538"}
xref: SCTID:55921005 {source="DOID:9538", source="EFO:0001378"}
xref: SCTID:94705007 {source="DOID:9538"}
xref: UMLS:C0026764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10122"}
is_a: MONDO:0004959 {source="EFO:0001378", source="MESH:D009101", source="NCIT:C3242", source="Orphanet:29073"} ! plasma cell neoplasm
is_a: MONDO:0005170 {source="DOID:9538", source="MONDO:Entailed", source="MONDO:Redundant"} ! myeloid neoplasm
intersection_of: MONDO:0005170 ! myeloid neoplasm
intersection_of: disease_has_location CL:0000786 ! plasma cell
relationship: disease_has_location UBERON:0002390 {source="NCIT:C3242"} ! hematopoietic system
relationship: has_characteristic PATO:0002097 {source="https://orcid.org/0000-0001-5208-3432"} ! neoplastic, malignant
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1506" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009694
name: myeloperoxidase deficiency
subset: gard_rare {source="GARD:3868", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2587"}
subset: orphanet_rare {source="Orphanet:2587"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MPO deficiency" EXACT [OMIM:254600, Orphanet:2587]
synonym: "MPOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254600]
synonym: "myeloperoxidase deficiency" EXACT [MONDO:Lexical, OMIM:254600]
xref: GARD:3868 {source="MONDO:GARD"}
xref: ICD10CM:E80.3 {source="Orphanet:2587/attributed", source="Orphanet:2587/ntbt", source="Orphanet:2587"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562864 {source="MONDO:equivalentTo"}
xref: NANDO:1200358 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200758 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:254600 {source="Orphanet:2587", source="MONDO:equivalentTo", source="Orphanet:2587/e"}
xref: Orphanet:2587 {source="MONDO:equivalentTo", source="OMIM:254600"}
xref: SCTID:234433009 {source="MONDO:equivalentTo"}
xref: UMLS:C0398595 {source="MEDGEN:96015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015978 {source="Orphanet:2587"} ! functional neutrophil defect
is_a: MONDO:0024626 ! defective phagocytic cell engulfment
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7218 {source="MONDO:mim2gene_medgen"} ! MPO
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency" xsd:anyURI {source="GARD:0003868"}

[Term]
id: MONDO:0009695
name: myeloproliferative disease, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myeloproliferative disease, autosomal recessive" EXACT [OMIM:254700]
xref: MEDGEN:338119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564977 {source="MONDO:equivalentTo"}
xref: OMIM:254700 {source="MONDO:equivalentTo"}
xref: UMLS:C1850779 {source="MONDO:equivalentTo", source="MEDGEN:338119", source="MONDO:MEDGEN"}
is_a: MONDO:0020076 {source="https://orcid.org/0000-0002-6601-2165"} ! myeloproliferative neoplasm

[Term]
id: MONDO:0009696
name: juvenile myoclonic epilepsy
def: "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." [Orphanet:307]
subset: gard_rare {source="GARD:6808", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:307"}
subset: orphanet_rare {source="Orphanet:307"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "EJM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254770]
synonym: "epilepsy, myoclonic juvenile" EXACT [MONDO:Lexical, OMIM:254770]
synonym: "Janz syndrome" NARROW [DOID:4890, OMIM:254770]
synonym: "JME" EXACT ABBREVIATION [Orphanet:307]
synonym: "juvenile myoclonus epilepsy" EXACT [Orphanet:307]
synonym: "myoclonic epilepsy, juvenile" EXACT [OMIM:254770]
synonym: "myoclonic epilepsy, juvenile, 1" EXACT [GARD:0006808]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 1" NARROW [OMIM:254770]
synonym: "petit mal, impulsive" NARROW [OMIM:254770]
xref: DOID:4890 {source="MONDO:equivalentTo"}
xref: GARD:6808 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:307", source="Orphanet:307/attributed", source="Orphanet:307/ntbt"}
xref: icd11.foundation:1014397110 {source="MONDO:equivalentTo", source="Orphanet:307"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071082 {source="Orphanet:307", source="Orphanet:307/e"}
xref: MEDGEN:78738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020190 {source="MONDO:equivalentTo", source="Orphanet:307", source="Orphanet:307/e", source="DOID:4890"}
xref: NCIT:C84796 {source="MONDO:equivalentTo", source="DOID:4890"}
xref: OMIM:254770 {source="MONDO:equivalentTo", source="Orphanet:307", source="Orphanet:307/e", source="DOID:4890"}
xref: OMIM:606904 {source="MONDO:equivalentObsolete", source="GARD:0006808"}
xref: OMIMPS:254770 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="MONDO:equivalentTo", source="OMIM:254770"}
xref: Orphanet:862 {source="DOID:4890"}
xref: SCTID:6204001 {source="MONDO:equivalentTo", source="DOID:4890"}
xref: UMLS:C0270853 {source="MEDGEN:78738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000415 {source="DOID:4890"} ! adolescence-adult electroclinical syndrome
is_a: MONDO:0005027 {source="DOID:4890/inferred", source="MESH:D020190/inferred", source="MONDO:Redundant", source="NCIT:C84796"} ! epilepsy
is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder
is_a: MONDO:0017704 {source="Orphanet:307"} ! familial partial epilepsy
is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
relationship: disease_has_feature HP:0001336 ! Myoclonus
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:254770"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy" xsd:anyURI {source="GARD:0006808"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/jme-overview.html" xsd:anyURI

[Term]
id: MONDO:0009697
name: Lafora disease
def: "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." [Orphanet:501]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8214", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:143373"}
subset: ordo_disorder {source="Orphanet:501"}
subset: orphanet_rare {source="Orphanet:501"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy progressive myoclonic 2" RELATED [GARD:0008214]
synonym: "epilepsy, progressive myoclonic 2A (Lafora)" EXACT [OMIM:254780, OMIM:genemap2]
synonym: "epilepsy, progressive myoclonic 2B (Lafora)" EXACT [OMIM:254780, OMIM:genemap2]
synonym: "epilepsy, progressive myoclonic, 2A" RELATED [OMIM:254780]
synonym: "epilepsy, progressive myoclonic, 2B" RELATED [OMIM:254780]
synonym: "EPM2" EXACT ABBREVIATION [Orphanet:501]
synonym: "Epm2" RELATED [OMIM:254780]
synonym: "Lafora body disease" RELATED [OMIM:254780]
synonym: "Lafora body disorder" RELATED [GARD:0008214]
synonym: "Lafora disease" EXACT CLINGEN_LABEL [OMIM:254780]
synonym: "Lafora progressive myoclonic epilepsy" EXACT [DOID:3534]
synonym: "Lafora's disease" EXACT [DOID:3534]
synonym: "Melf" RELATED [OMIM:254780]
synonym: "myoclonic epilepsy of Lafora" EXACT [DOID:3534, OMIM:254780]
synonym: "PME type 2" EXACT [Orphanet:501]
synonym: "progressive myoclonic epilepsy type 2" EXACT [Orphanet:501]
synonym: "progressive myoclonus epilepsy type 2" EXACT [Orphanet:501]
xref: DOID:3534 {source="MONDO:equivalentTo"}
xref: GARD:8214 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:501/attributed", source="Orphanet:501/ntbt", source="Orphanet:501"}
xref: MedDRA:10054030 {source="Orphanet:501", source="Orphanet:501/e"}
xref: MEDGEN:155631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020192 {source="Orphanet:501", source="MONDO:equivalentTo", source="DOID:3534", source="Orphanet:501/e"}
xref: NANDO:1200955 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200881 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84804 {source="MONDO:equivalentTo", source="DOID:3534"}
xref: NORD:143373 {source="MONDO:NORD"}
xref: OMIMPS:254780 {source="MONDO:equivalentTo"}
xref: Orphanet:501 {source="OMIM:254780", source="MONDO:equivalentTo"}
xref: SCTID:230425004 {source="MONDO:equivalentTo", source="DOID:3534"}
xref: UMLS:C0751783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155631"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder
is_a: MONDO:0020074 {source="OMIMPS:254780"} ! progressive myoclonus epilepsy
is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:254780"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8214/lafora-disease" xsd:anyURI {source="GARD:0008214"}

[Term]
id: MONDO:0009698
name: Unverricht-Lundborg syndrome
def: "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." [Orphanet:308]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3876", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:308"}
subset: ordo_malformation_syndrome {source="Orphanet:308"}
subset: orphanet_rare {source="Orphanet:308"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Baltic myoclonic epilepsy" RELATED [OMIM:254800]
synonym: "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" EXACT [OMIM:254800, OMIM:genemap2]
synonym: "epilepsy, progressive myoclonic type 1" RELATED [GARD:0003876]
synonym: "epilepsy, progressive myoclonic, 1" RELATED [OMIM:254800]
synonym: "epilepsy, progressive myoclonic, 1A" RELATED [OMIM:254800]
synonym: "epilepsy, progressive myoclonus 1" RELATED [GARD:0003876]
synonym: "EPM1" RELATED ABBREVIATION [GARD:0003876]
synonym: "myoclonic epilepsy of Unverricht and Lundborg" RELATED [OMIM:254800]
synonym: "myoclonus progressive epilepsy of Unverricht and Lundborg" RELATED [GARD:0003876]
synonym: "PME type 1" EXACT [Orphanet:308]
synonym: "progressive myoclonic epilepsy" RELATED [OMIM:254800]
synonym: "progressive myoclonic epilepsy type 1" EXACT [Orphanet:308]
synonym: "progressive myoclonus epilepsy Baltic myoclonic epilepsy" RELATED [GARD:0003876]
synonym: "progressive myoclonus epilepsy type 1" EXACT [Orphanet:308]
synonym: "ULD" EXACT ABBREVIATION [Orphanet:308]
synonym: "Uld" RELATED [OMIM:254800]
synonym: "Unverricht - Lundborg disease" EXACT [DOID:3535]
synonym: "Unverricht's disease" EXACT [DOID:3535]
synonym: "Unverricht-Lundborg disease" EXACT [DOID:3535]
synonym: "Unverricht-Lundborg syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0111452 {source="MONDO:equivalentTo"}
xref: DOID:3535 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:3876 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:308", source="Orphanet:308/attributed", source="Orphanet:308/ntbt"}
xref: MedDRA:10054895 {source="Orphanet:308", source="Orphanet:308/e"}
xref: MEDGEN:155923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020194 {source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="Orphanet:308/e"}
xref: NANDO:1200954 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200880 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:254800 {source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="Orphanet:308/e"}
xref: Orphanet:308 {source="MONDO:equivalentTo", source="OMIM:254800"}
xref: SCTID:192844008 {source="DOID:3535"}
xref: SCTID:192847001 {source="DOID:3535"}
xref: SCTID:230423006 {source="DOID:3535", source="MONDO:equivalentTo"}
xref: SCTID:230424000 {source="DOID:3535"}
xref: SCTID:89480000 {source="DOID:3535"}
xref: UMLS:C0751785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155923"}
is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder
is_a: MONDO:0020074 {source="DC-OMIM:254800", source="DOID:3535", source="MESH:D020194", source="OMIM:254800", source="Orphanet:308"} ! progressive myoclonus epilepsy
is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2482 {source="MONDO:mim2gene_medgen"} ! CSTB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009699
name: action myoclonus-renal failure syndrome
def: "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms." [Orphanet:163696]
subset: gard_rare {source="GARD:17000", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163696"}
subset: orphanet_rare {source="Orphanet:163696"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "action myoclonus-renal failure syndrome" EXACT [OMIM:254900]
synonym: "AMRF" EXACT ABBREVIATION [Orphanet:163696]
synonym: "epilepsy, progressive myoclonic 4, with or without renal failure" EXACT [OMIM:254900, OMIM:genemap2]
synonym: "epilepsy, progressive myoclonic, 4, with or without renal failure" EXACT [MONDO:Lexical, OMIM:254900]
synonym: "EPM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254900, Orphanet:163696]
synonym: "myoclonus-nephropathy syndrome" EXACT [OMIM:254900, Orphanet:163696]
synonym: "progressive myoclonic epilepsy type 4" EXACT [Orphanet:163696]
xref: DOID:0111444 {source="MONDO:equivalentTo"}
xref: GARD:17000 {source="MONDO:GARD"}
xref: MEDGEN:155629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:254900 {source="MONDO:equivalentTo", source="Orphanet:163696", source="Orphanet:163696/e"}
xref: Orphanet:163696 {source="MONDO:equivalentTo", source="OMIM:254900"}
xref: SCTID:764453009 {source="MONDO:equivalentTo"}
xref: UMLS:C0751779 {source="MEDGEN:155629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020074 {source="DC-OMIM:254900", source="OMIM:254900"} ! progressive myoclonus epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1665 {source="MONDO:mim2gene_medgen"} ! SCARB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009700
name: obsolete Carey-Fineman-Ziter syndrome
subset: clingen {source="MONDO:CLINGEN"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0031415

[Term]
id: MONDO:0009701
name: myopathy, granulovacuolar lobular, with electrical myotonia
synonym: "myopathy, granulovacuolar lobular, with electrical myotonia" EXACT [OMIM:254950]
xref: MEDGEN:338114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564974 {source="MONDO:equivalentTo"}
xref: OMIM:254950 {source="MONDO:equivalentTo"}
xref: UMLS:C1850745 {source="MEDGEN:338114", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009702
name: myopathy due to malate-aspartate shuttle defect
synonym: "myopathy due to malate-aspartate shuttle defect" EXACT [OMIM:254960]
xref: MEDGEN:342579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564973 {source="MONDO:equivalentTo"}
xref: OMIM:254960 {source="MONDO:equivalentTo"}
xref: UMLS:C1850744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342579"}
is_a: MONDO:0003847 {source="MESH:C564973/inferred"} ! hereditary disease

[Term]
id: MONDO:0009703
name: myopathy with abnormal lipid metabolism
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lipid storage myopathy" RELATED [OMIM:255100]
synonym: "LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [OMIM:255100]
synonym: "lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [OMIM:255100]
synonym: "LSMFLAD" RELATED ABBREVIATION [OMIM:255100]
synonym: "myopathy with abnormal lipid metabolism" EXACT CLINGEN_LABEL [OMIM:255100]
xref: MEDGEN:934789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562935 {source="MONDO:equivalentTo"}
xref: OMIM:255100 {source="MONDO:equivalentTo"}
xref: UMLS:C4310822 {source="MEDGEN:934789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="https://orcid.org/0000-0002-4142-7153"} ! myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24671 {source="MONDO:mim2gene_medgen"} ! FLAD1

[Term]
id: MONDO:0009704
name: carnitine palmitoyl transferase II deficiency, myopathic form
def: "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency." [Orphanet:228302]
subset: gard_rare {source="GARD:17149", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:228302"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnitine palmitoyl transferase deficiency type 2, adult-onset form" EXACT [Orphanet:228302]
synonym: "Carnitine palmitoyl transferase deficiency type 2, myopathic form" EXACT [Orphanet:228302]
synonym: "Carnitine palmitoyl transferase II deficiency, adult-onset form" EXACT [Orphanet:228302]
synonym: "carnitine palmitoyl transferase II deficiency, myopathic form" EXACT CLINGEN_LABEL []
synonym: "Carnitine Palmitoyltransferase 2 deficiency, adult-onset" RELATED [OMIM:255110]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic" RELATED [OMIM:255110]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced" RELATED [OMIM:255110]
synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset" RELATED [OMIM:255110]
synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced" RELATED [OMIM:255110]
synonym: "CPT 2 deficiency, myopathic" RELATED [OMIM:255110]
synonym: "CPT II deficiency, myopathic, stress-induced" EXACT [OMIM:255110, OMIM:genemap2]
synonym: "Cpt2 deficiency, late-onset" RELATED [OMIM:255110]
synonym: "CPT2, adult-onset form" EXACT [Orphanet:228302]
synonym: "CPT2, myopathic form" EXACT [Orphanet:228302]
synonym: "CPTII, adult-onset form" EXACT [Orphanet:228302]
synonym: "CPTII, myopathic form" EXACT [Orphanet:228302]
xref: GARD:17149 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:228302/attributed", source="Orphanet:228302/ntbt", source="Orphanet:228302"}
xref: MEDGEN:371584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563461 {source="MONDO:equivalentTo"}
xref: OMIM:255110 {source="Orphanet:228302/e", source="MONDO:equivalentTo", source="Orphanet:228302"}
xref: Orphanet:157 {source="OMIM:255110"}
xref: Orphanet:228302 {source="OMIM:255110", source="MONDO:equivalentTo"}
xref: UMLS:C1833508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371584"}
is_a: MONDO:0015515 {source="DC-OMIM:255110", source="Orphanet:228302"} ! carnitine palmitoyltransferase II deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 {source="MONDO:mim2gene_medgen"} ! CPT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009705
name: carnitine palmitoyl transferase 1A deficiency
def: "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." [Orphanet:156]
comment: Editor note: consider adding sibling for CPT-1B
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:894"}
subset: ordo_disorder {source="Orphanet:156"}
subset: orphanet_rare {source="Orphanet:156"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnitine palmitoyl transferase 1 deficiency" RELATED [GARD:0001120]
synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT CLINGEN_LABEL [DOID:0090129]
synonym: "Carnitine palmitoyl transferase IA deficiency" EXACT [Orphanet:156]
synonym: "carnitine palmitoyl transferase IA deficiency" EXACT [DOID:0090129]
synonym: "Carnitine Palmitoyltransferase 1 deficiency" RELATED [OMIM:255120]
synonym: "Carnitine Palmitoyltransferase 1A Deficiency" EXACT [NORD:894]
synonym: "Carnitine Palmitoyltransferase 1A deficiency" RELATED [OMIM:255120]
synonym: "Carnitine palmitoyltransferase 1A deficiency" RELATED [GARD:0001120]
synonym: "carnitine palmitoyltransferase I deficiency" EXACT [OMIM:255120]
synonym: "CPT 1 deficiency" RELATED [OMIM:255120]
synonym: "CPT deficiency, hepatic, type 1" RELATED [OMIM:255120]
synonym: "cpt deficiency, hepatic, type IA" EXACT [OMIM:255120, OMIM:genemap2]
synonym: "CPT I deficiency" EXACT [DOID:0090129]
synonym: "CPT1A deficiency" EXACT [DOID:0090129, Orphanet:156]
synonym: "CPT1A disorder of carnitine cycle and carnitine transport" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" EXACT [MONDO:design_pattern]
synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" EXACT [DOID:0090129, Orphanet:156]
synonym: "hepatic carnitine palmitoyl transferase I deficiency" EXACT [DOID:0090129, Orphanet:156]
synonym: "hepatic carnitine palmitoyltransferase 1 deficiency" RELATED [GARD:0001120]
synonym: "hepatic CPT deficiency type I" EXACT [DOID:0090129]
synonym: "hepatic CPT1" RELATED [GARD:0001120]
synonym: "L-CPT 1 deficiency" RELATED [GARD:0001120]
synonym: "L-CPT1 deficiency" EXACT [DOID:0090129, GARD:0001120, Orphanet:156]
synonym: "L-CPTI deficiency" EXACT [GARD:0001120, Orphanet:156]
xref: DOID:0090129 {source="MONDO:equivalentTo"}
xref: GARD:1120 {source="MONDO:GARD"}
xref: HGNC:2328 {source="GARD:0001120"}
xref: ICD10CM:E71.3 {source="Orphanet:156/ntbt", source="Orphanet:156/inclusion", source="DOID:0090129", source="Orphanet:156"}
xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:316820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535588 {source="MONDO:equivalentTo"}
xref: NANDO:1200970 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200509 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98871 {source="MONDO:equivalentTo"}
xref: NORD:894 {source="MONDO:NORD"}
xref: OMIM:255120 {source="Orphanet:156/e", source="MONDO:equivalentTo", source="DOID:0090129", source="Orphanet:156"}
xref: Orphanet:156 {source="OMIM:255120", source="MONDO:equivalentTo", source="DOID:0090129", source="GARD:0001120"}
xref: SCTID:238001003 {source="MONDO:equivalentTo"}
xref: UMLS:C1829703 {source="MEDGEN:316820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017716 {source="MONDO:Redundant", source="Orphanet:156"} ! disorder of carnitine cycle and carnitine transport
intersection_of: MONDO:0017716 ! disorder of carnitine cycle and carnitine transport
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2328 ! CPT1A
relationship: disease_disrupts GO:0019395 ! fatty acid oxidation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2328 {source="MONDO:mim2gene_medgen"} ! CPT1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency" xsd:anyURI {source="GARD:0001120"}

[Term]
id: MONDO:0009706
name: hereditary myopathy with lactic acidosis due to ISCU deficiency
def: "Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." [Orphanet:43115]
subset: gard_rare {source="GARD:16643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:43115"}
subset: orphanet_rare {source="Orphanet:43115"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aconitase deficiency" EXACT [Orphanet:43115]
synonym: "HML" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255125]
synonym: "iron-sulfur cluster deficiency myopathy" EXACT [Orphanet:43115]
synonym: "ISCU myopathy" EXACT [Orphanet:43115]
synonym: "myoglobinuria due to abnormal glycolysis" RELATED [OMIM:255125]
synonym: "myopathy with deficiency of succinate dehydrogenase and aconitase" RELATED [OMIM:255125]
synonym: "myopathy with exercise intolerance, Swedish type" EXACT [OMIM:255125, Orphanet:43115]
synonym: "myopathy with lactic acidosis, hereditary" RELATED [MONDO:Lexical, OMIM:255125]
xref: GARD:16643 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:43115/attributed", source="Orphanet:43115/ntbt", source="Orphanet:43115"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:342573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564972 {source="MONDO:equivalentTo"}
xref: OMIM:255125 {source="Orphanet:43115", source="MONDO:equivalentTo", source="Orphanet:43115/e"}
xref: Orphanet:43115 {source="MONDO:equivalentTo", source="OMIM:255125"}
xref: SCTID:699268002 {source="MONDO:equivalentTo"}
xref: UMLS:C1850718 {source="MEDGEN:342573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020123 {source="Orphanet:43115"} ! metabolic myopathy
is_a: MONDO:0044970 ! mitochondrial disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29882 {source="MONDO:mim2gene_medgen"} ! ISCU

[Term]
id: MONDO:0009707
name: myopathy with giant abnormal mitochondria
synonym: "myopathy with giant abnormal mitochondria" EXACT [OMIM:255140]
xref: MEDGEN:376864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564971 {source="MONDO:equivalentTo"}
xref: OMIM:255140 {source="MONDO:equivalentTo"}
xref: UMLS:C1850717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376864"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009708
name: myopathy, myosin storage, autosomal recessive
subset: gard_rare {source="GARD:15207", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:636970"}
subset: rare
synonym: "autosomal recessive myosin storage myopathy" EXACT [Orphanet:636970]
synonym: "MSMB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255160]
synonym: "myopathy, hyaline body, autosomal recessive" RELATED [OMIM:255160]
synonym: "myopathy, myosin storage, autosomal recessive" EXACT [MONDO:Lexical, OMIM:255160]
xref: DOID:0111268 {source="MONDO:equivalentTo"}
xref: GARD:15207 {source="MONDO:GARD"}
xref: MEDGEN:340603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564970 {source="MONDO:equivalentTo"}
xref: OMIM:255160 {source="MONDO:equivalentTo"}
xref: Orphanet:53698 {source="OMIM:255160"}
xref: Orphanet:636970 {source="MONDO:equivalentTo"}
xref: UMLS:C1850709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340603"}
is_a: MONDO:0019952 {source="OMIM:255160"} ! congenital myopathy
relationship: excluded_subClassOf MONDO:0018889 {source="Orphanet:53698/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! hyaline body myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7

[Term]
id: MONDO:0009709
name: myopathy, centronuclear, 2
def: "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15208", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BIN1 centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "centronuclear myopathy 2" EXACT [OMIM:255200, OMIM:genemap2]
synonym: "centronuclear myopathy caused by mutation in BIN1" EXACT [MONDO:design_pattern]
synonym: "CNM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255200]
synonym: "myopathy, centronuclear, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:255200]
synonym: "myopathy, centronuclear, autosomal recessive" RELATED [OMIM:255200]
synonym: "myopathy, centronuclear, type 2" EXACT [MONDORULE:1, OMIM:255200]
synonym: "myotubular myopathy, autosomal recessive" RELATED [OMIM:255200]
xref: DOID:0111220 {source="MONDO:equivalentTo"}
xref: GARD:15208 {source="MONDO:GARD"}
xref: MEDGEN:98049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562934 {source="MONDO:equivalentTo"}
xref: OMIM:255200 {source="MONDO:equivalentTo"}
xref: Orphanet:169186 {source="OMIM:255200"}
xref: UMLS:C0410204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98049"}
is_a: MONDO:0015705 {source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy
is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:255200"} ! centronuclear myopathy
intersection_of: MONDO:0018947 ! centronuclear myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1052 ! BIN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1052 {source="MONDO:mim2gene_medgen"} ! BIN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009710
name: Thomsen and Becker disease
def: "A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia)." [Orphanet:614]
subset: gard_rare {source="GARD:12301", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:614"}
subset: orphanet_rare {source="Orphanet:614"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Batten-Turner congenital myopathy" RELATED [OMIM:255300]
synonym: "myopathy, congenital" RELATED [OMIM:255300]
synonym: "myotonia congenita" EXACT [Orphanet:614]
xref: DOID:2106 {source="MONDO:equivalentTo"}
xref: GARD:12301 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:614/ntbt", source="Orphanet:614/inclusion", source="Orphanet:614"}
xref: ICD10CM:G71.12 {source="MONDO:equivalentTo"}
xref: ICD9:359.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2106"}
xref: MedDRA:10028655 {source="Orphanet:614", source="Orphanet:614/e"}
xref: MedDRA:10043461 {source="Orphanet:614", source="Orphanet:614/e"}
xref: MESH:D009224 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:2106"}
xref: NANDO:1200497 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200498 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84912 {source="MONDO:equivalentTo", source="DOID:2106"}
xref: Orphanet:614 {source="MONDO:equivalentTo", source="DOID:2106"}
xref: SCTID:726051002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019119 {source="Orphanet:614"} ! muscular channelopathy
relationship: excluded_subClassOf MONDO:0016121 {source="Orphanet:614", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital myotonia
relationship: excluded_subClassOf MONDO:0019952 {source="DC-OMIM:255300", source="https://orcid.org/0000-0001-5208-3432"} ! congenital myopathy

[Term]
id: MONDO:0009711
name: congenital fiber-type disproportion myopathy
def: "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." [NCIT:C120046]
subset: gard_rare {source="GARD:6161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2020"}
subset: orphanet_rare {source="Orphanet:2020"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CFTDM" EXACT ABBREVIATION [Orphanet:2020]
synonym: "congenital fiber type disproportion" RELATED [GARD:0006161]
synonym: "congenital fiber-type disproportion" EXACT [NCIT:C120046]
synonym: "congenital fibre type disproportion" RELATED OMO:0003005 []
synonym: "congenital myopathy with fiber type disproportion" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4347282, SCTID:240084007]
synonym: "congenital myopathy with fibre type disproportion" EXACT OMO:0003005 []
synonym: "myopathy, congenital with fiber-type disproportion" RELATED [GARD:0006161]
xref: DOID:0080102 {source="MONDO:equivalentTo"}
xref: GARD:6161 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:2020/ntbt", source="Orphanet:2020/inclusion", source="Orphanet:2020"}
xref: MEDGEN:108177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200483 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200868 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C120046 {source="MONDO:equivalentTo"}
xref: Orphanet:2020 {source="MONDO:equivalentTo", source="OMIM:255310"}
xref: UMLS:C0546264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108177"}
is_a: MONDO:0002921 {source="OMIM:255310"} ! congenital structural myopathy
is_a: MONDO:0005336 {source="MONDO:Redundant", source="NCIT:C120046"} ! myopathy
is_a: MONDO:0019952 {source="DOID:0080102"} ! congenital myopathy
is_a: MONDO:0100108 {source="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy
is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy
is_a: MONDO:0100196 {source="PMID:28881016", source="https://clinicalgenome.org/affiliation/40031/", source="https://github.com/monarch-initiative/mondo/issues/1922"} ! TPM2-related myopathy
relationship: excluded_subClassOf MONDO:0016193 {source="Orphanet:2020", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of alpha-actin
relationship: excluded_subClassOf MONDO:0016197 {source="Orphanet:2020", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of selenoprotein N1
relationship: excluded_subClassOf MONDO:0017303 {source="Orphanet:2020", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of tropomyosin
relationship: excluded_subClassOf MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900", source="https://orcid.org/0000-0001-5208-3432"} ! alpha-actinopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6035" xsd:anyURI

[Term]
id: MONDO:0009712
name: congenital multicore myopathy with external ophthalmoplegia
def: "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity." [NCIT:C150608]
subset: gard_rare {source="GARD:10316", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98905"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "minicore myopathy" RELATED [OMIM:255320]
synonym: "minicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320]
synonym: "minicore myopathy, antenatal onset, with arthrogryposis" EXACT [OMIM:255320]
synonym: "multicore myopathy" RELATED [OMIM:255320]
synonym: "multicore myopathy with external ophthalmoplegia" RELATED [GARD:0010316]
synonym: "multiminicore disease with external ophthalmoplegia" RELATED [OMIM:255320]
synonym: "multiminicore myopathy multicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320]
xref: GARD:10316 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:98905", source="Orphanet:98905/attributed", source="Orphanet:98905/ntbt"}
xref: MEDGEN:340597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200872 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C150608 {source="MONDO:equivalentTo"}
xref: OMIM:255320 {source="Orphanet:98905/e", source="MONDO:equivalentTo", source="Orphanet:98905"}
xref: Orphanet:598 {source="OMIM:255320"}
xref: Orphanet:98905 {source="MONDO:equivalentTo", source="OMIM:255320"}
xref: UMLS:C1850674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340597"}
is_a: MONDO:0018948 {source="Orphanet:98905"} ! multiminicore myopathy
is_a: MONDO:0019952 {source="OMIM:255320"} ! congenital myopathy
is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="MONDO:mim2gene_medgen"} ! RYR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009713
name: myopia 18, autosomal recessive
synonym: "myopia 18, autosomal recessive" EXACT [MONDO:Lexical, OMIM:255500]
synonym: "MYP18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:255500]
xref: MEDGEN:411856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567606 {source="MONDO:equivalentTo"}
xref: OMIM:255500 {source="MONDO:equivalentTo"}
xref: UMLS:C2749509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411856"}
is_a: MONDO:0001384 {source="DC-OMIM:255500", source="MESH:C567606", source="OMIM:255500"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009714
name: myosclerosis
def: "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." [Orphanet:289380]
comment: Reason: duplicate. This will be merged with MONDO:0100225 collagen 6-related myopathy
subset: gard_rare {source="GARD:17325", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:289380"}
subset: orphanet_rare {source="Orphanet:289380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital myosclerosis, LC6wenthal type" EXACT [Orphanet:289380]
synonym: "congenital myosclerosis, Löwenthal type" EXACT [Orphanet:289380]
synonym: "myopathy, myosclerotic" RELATED [OMIM:255600]
synonym: "myosclerosis, autosomal recessive" RELATED [OMIM:255600]
synonym: "myosclerosis, congenital" EXACT [OMIM:255600, OMIM:genemap2]
synonym: "myosclerosis, congenital, of Lowenthal" RELATED [OMIM:255600]
xref: GARD:17325 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:289380/attributed", source="Orphanet:289380/ntbt", source="Orphanet:289380"}
xref: MedDRA:10064584 {source="Orphanet:289380/e", source="Orphanet:289380"}
xref: MEDGEN:338098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564968 {source="MONDO:equivalentTo"}
xref: OMIM:255600 {source="Orphanet:289380/e", source="MONDO:equivalentTo", source="Orphanet:289380"}
xref: Orphanet:289380 {source="MONDO:equivalentTo", source="OMIM:255600"}
xref: SCTID:763895001 {source="MONDO:equivalentTo"}
xref: UMLS:C1850671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338098"}
is_a: MONDO:0100225 {source="PMID:21691338", source="https://clinicalgenome.org/affiliation/40031/"} ! collagen 6-related myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2212 {source="MONDO:mim2gene_medgen"} ! COL6A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2361" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0006012 "2024-05-01" xsd:string

[Term]
id: MONDO:0009715
name: myotonia congenita, autosomal recessive
def: "Autosomal recessive form of myotonia congenita." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:844", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive myotonia congenita" EXACT [MONDO:design_pattern]
synonym: "Becker disease" RELATED [OMIM:255700]
synonym: "myotonia congenita, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:255700]
synonym: "myotonia congenita, recessive" EXACT [OMIM:255700, OMIM:genemap2]
synonym: "myotonia, generalised" RELATED OMO:0003005 []
synonym: "myotonia, generalized" RELATED [OMIM:255700]
xref: GARD:844 {source="MONDO:GARD"}
xref: MEDGEN:155852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200499 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:255700 {source="MONDO:equivalentTo"}
xref: Orphanet:614 {source="OMIM:255700"}
xref: UMLS:C0751360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155852"}
is_a: MONDO:0009710 {source="DC-OMIM:255700", source="MONDO:Redundant"} ! Thomsen and Becker disease
intersection_of: MONDO:0009710 ! Thomsen and Becker disease
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2019 {source="MONDO:mim2gene_medgen"} ! CLCN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009716
name: Richieri Costa-da Silva syndrome
subset: gard_rare {source="GARD:4709", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3101"}
subset: ordo_malformation_syndrome {source="Orphanet:3101"}
subset: orphanet_rare {source="Orphanet:3101"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myotonia with skeletal abnormalities and intellectual disability" RELATED [OMIM:255710]
synonym: "myotonia with skeletal abnormalities and mental retardation" RELATED DEPRECATED [OMIM:255710]
synonym: "myotonia-intellectual disability-skeletal anomalies syndrome" EXACT [Orphanet:3101]
synonym: "Richieri Costa Da Silva syndrome" RELATED [GARD:0004709]
xref: GARD:4709 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3101", source="Orphanet:3101/attributed", source="Orphanet:3101/ntbt"}
xref: MEDGEN:419686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535675 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"}
xref: OMIM:255710 {source="Orphanet:3101", source="MONDO:equivalentTo", source="Orphanet:3101/e"}
xref: Orphanet:3101 {source="MONDO:equivalentTo", source="OMIM:255710"}
xref: UMLS:C2930978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419686"}
is_a: MONDO:0015161 {source="Orphanet:3101"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016761 {source="Orphanet:3101"} ! spondyloepiphyseal dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome" xsd:anyURI {source="GARD:0004709"}

[Term]
id: MONDO:0009717
name: Schwartz-Jampel syndrome
def: "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." [Orphanet:800]
subset: gard_rare {source="GARD:250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1697"}
subset: ordo_disorder {source="Orphanet:800"}
subset: orphanet_rare {source="Orphanet:800"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Aberfeld syndrome" EXACT [Orphanet:800]
synonym: "burton skeletal dysplasia" EXACT [Orphanet:800]
synonym: "burton syndrome" EXACT [Orphanet:800]
synonym: "Catel-Hempel syndrome" EXACT [Orphanet:800]
synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT [Orphanet:800]
synonym: "dysostosis enchondralis metaepiphysaria, Catel-Hempel type" EXACT [Orphanet:800]
synonym: "myotonic chondrodystrophy" EXACT [DOID:0090005, Orphanet:800]
synonym: "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities" RELATED [GARD:0000250]
synonym: "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities" RELATED [OMIM:255800]
synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT [DOID:0090005, Orphanet:800]
synonym: "Osteochondromuscular dystrophy" EXACT [Orphanet:800]
synonym: "osteochondromuscular dystrophy" EXACT [DOID:0090005]
synonym: "Schwartz Jampel Aberfeld syndrome" RELATED [GARD:0000250]
synonym: "Schwartz Jampel Syndrome" EXACT [NORD:1697]
synonym: "Schwartz Jampel syndrome" RELATED [GARD:0000250]
synonym: "Schwartz-Jampel syndrome" EXACT CLINGEN_LABEL [Orphanet:800]
synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [DOID:0090005, OMIM:255800, Orphanet:800]
synonym: "SJS" EXACT ABBREVIATION [Orphanet:800]
xref: GARD:250 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:800/attributed", source="Orphanet:800/ntbt", source="Orphanet:800", source="DOID:0090005"}
xref: ICD10CM:Q78.8 {source="Orphanet:800/ntbt", source="Orphanet:800", source="Orphanet:800/index"}
xref: icd11.foundation:1725668060 {source="Orphanet:800", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200224 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100235 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200876 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35008 {source="MONDO:equivalentTo"}
xref: NORD:1697 {source="MONDO:NORD"}
xref: Orphanet:800 {source="MONDO:equivalentTo", source="DOID:0090005", source="OMIM:255800"}
xref: SCTID:29145002 {source="MONDO:equivalentTo"}
xref: UMLS:C0036391 {source="MEDGEN:19892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35008"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0090005", source="MONDO:Redundant", source="Orphanet:800"} ! autosomal recessive disease
is_a: MONDO:0016151 {source="Orphanet:800"} ! qualitative or quantitative defects of perlecan
is_a: MONDO:0016761 {source="Orphanet:800"} ! spondyloepiphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016106 {source="Orphanet:800", source="https://orcid.org/0000-0001-5208-3432"} ! progressive muscular dystrophy
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:255800", source="Orphanet:800"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0009718
name: myxedema
def: "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance." [NCIT:C34834]
comment: Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism.
subset: otar {source="MONDO:OTAR"}
synonym: "myxedema" EXACT [OMIM:255900]
xref: DOID:11634 {source="EFO:1001055", source="MONDO:equivalentTo"}
xref: EFO:1001055 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E03.9 {source="DOID:11634"}
xref: MedDRA:10028663 {source="EFO:1001055"}
xref: MEDGEN:6506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009230 {source="EFO:1001055", source="DOID:11634", source="MONDO:finding", source="MONDO:equivalentTo"}
xref: NCIT:C34834 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo"}
xref: OMIM:255900 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo"}
xref: SCTID:154660000 {source="DOID:11634"}
xref: SCTID:190274003 {source="DOID:11634"}
xref: SCTID:267465007 {source="DOID:11634"}
xref: SCTID:43153006 {source="EFO:1001055", source="DOID:11634", source="MONDO:equivalentTo"}
xref: UMLS:C0027145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6506"}
is_a: MONDO:0005420 {source="DOID:11634", source="EFO:1001055", source="MESH:D009230", source="NCIT:C34834"} ! hypothyroidism

[Term]
id: MONDO:0009719
name: familial atrial myxoma
subset: gard_rare {source="GARD:139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:615"}
subset: orphanet_rare {source="Orphanet:615"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrial Myxoma, familial" RELATED [OMIM:255960]
synonym: "intracardiac myxoma" RELATED [GARD:0000139]
synonym: "MYXOMA, intracardiac" RELATED [OMIM:255960]
xref: GARD:139 {source="MONDO:GARD"}
xref: ICD10CM:D15.1 {source="MONDO:relatedTo", source="Orphanet:615", source="Orphanet:615/attributed", source="Orphanet:615/ntbt"}
xref: MEDGEN:419902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538262 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"}
xref: OMIM:255960 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"}
xref: Orphanet:615 {source="MONDO:equivalentTo", source="OMIM:255960"}
xref: SCTID:233855002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931787 {source="MEDGEN:419902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0021209 {source="MONDO:Redundant", source="Orphanet:615"} ! heart neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015673"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 {source="MONDO:mim2gene_medgen"} ! PRKAR1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial" xsd:anyURI {source="GARD:0000139"}

[Term]
id: MONDO:0009720
name: Keipert syndrome
def: "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." [Orphanet:2662]
subset: gard_rare {source="GARD:267", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2662"}
subset: ordo_malformation_syndrome {source="Orphanet:2662"}
subset: orphanet_rare {source="Orphanet:2662"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Keipert syndrome" EXACT [OMIM:255980, OMIM:301026]
synonym: "Keipert syndrome, X-linked recessive" EXACT [OMIM:301026, OMIM:genemap2]
synonym: "KPTS" EXACT ABBREVIATION [OMIM:301026]
synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980, OMIM:301026, Orphanet:2662]
synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026]
xref: DOID:0111842 {source="MONDO:equivalentTo"}
xref: GARD:267 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2662/attributed", source="Orphanet:2662/ntbt", source="Orphanet:2662"}
xref: MEDGEN:338088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538337 {source="MONDO:equivalentTo"}
xref: NCIT:C186306 {source="MONDO:equivalentTo"}
xref: OMIM:255980 {source="Orphanet:2662", source="MONDO:equivalentObsolete", source="Orphanet:2662/e"}
xref: OMIM:301026 {source="MONDO:equivalentTo"}
xref: Orphanet:2662 {source="MONDO:equivalentTo", source="OMIM:301026", source="OMIM:255980"}
xref: SCTID:763774001 {source="MONDO:equivalentTo"}
xref: UMLS:C1850627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338088"}
is_a: MONDO:0000001 {source="OMIM:301026"} ! disease
is_a: MONDO:0015161 {source="Orphanet:2662"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2662", source="Orphanet:2662/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009721
name: Nathalie syndrome
def: "Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." [Orphanet:2663]
subset: gard_rare {source="GARD:3929", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2663"}
subset: ordo_malformation_syndrome {source="Orphanet:2663"}
subset: orphanet_rare {source="Orphanet:2663"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics" RELATED [GARD:0003929]
synonym: "deafness-cataract-skeletal anomalies syndrome" EXACT [Orphanet:2663]
synonym: "deafness-cataracts-skeletal anomalies syndrome" EXACT [Orphanet:2663]
synonym: "Nathalie syndrome" EXACT [OMIM:255990]
synonym: "sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome" EXACT [Orphanet:2663]
xref: GARD:3929 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2663", source="Orphanet:2663/attributed", source="Orphanet:2663/ntbt"}
xref: MEDGEN:338087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538342 {source="Orphanet:2663", source="MONDO:equivalentTo", source="Orphanet:2663/e"}
xref: OMIM:255990 {source="Orphanet:2663", source="MONDO:equivalentTo", source="Orphanet:2663/e"}
xref: Orphanet:2663 {source="OMIM:255990", source="MONDO:equivalentTo"}
xref: SCTID:716170005 {source="MONDO:equivalentTo"}
xref: UMLS:C1850626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338087"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome" xsd:anyURI {source="GARD:0003929"}

[Term]
id: MONDO:0009722
name: Bailey-Bloch congenital myopathy
def: "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." [Orphanet:168572]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8432", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:168572"}
subset: ordo_malformation_syndrome {source="Orphanet:168572"}
subset: orphanet_rare {source="Orphanet:168572"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bailey-Bloch congenital myopathy" EXACT CLINGEN_LABEL []
synonym: "congenital myopathy - cleft palate - malignant hyperthermia" RELATED [GARD:0008432]
synonym: "congenital myopathy cleft palate and malignant hyperthermia" RELATED [GARD:0008432]
synonym: "congenital myopathy-cleft palate-malignant hyperthermia syndrome" EXACT [Orphanet:168572]
synonym: "myopathy, congenital, baily-bloch" EXACT [OMIM:255995, OMIM:genemap2]
synonym: "myopathy, congenital, with cleft palate and malignant hyperthermia" RELATED [OMIM:255995]
synonym: "NAM" RELATED DEPRECATED [MONDO:Lexical, OMIM:255995]
synonym: "Native American myopathy" EXACT DEPRECATED [MONDO:Lexical, OMIM:255995]
synonym: "STAC3 disorder" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK542808/]
xref: DOID:0060346 {source="MONDO:equivalentTo"}
xref: GARD:8432 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:168572/attributed", source="Orphanet:168572/ntbt", source="Orphanet:168572"}
xref: MEDGEN:340586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538343 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572"}
xref: OMIM:255995 {source="Orphanet:168572/e", source="MONDO:equivalentTo", source="DOID:0060346", source="Orphanet:168572"}
xref: Orphanet:168572 {source="MONDO:equivalentTo", source="DOID:0060346", source="OMIM:255995"}
xref: SCTID:723439002 {source="MONDO:equivalentTo"}
xref: UMLS:C1850625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340586"}
is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder
is_a: MONDO:0019952 {source="OMIM:255310", source="Orphanet:168572"} ! congenital myopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28423 {source="MONDO:mim2gene_medgen"} ! STAC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1377" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009723
name: Leigh syndrome
def: "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." [Orphanet:506]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:6877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1355"}
subset: ordo_disorder {source="Orphanet:506"}
subset: orphanet_rare {source="Orphanet:506"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile necrotizing encephalomyelopathy" EXACT [DOID:3652]
synonym: "infantile subacute necrotizing encephalopathy" EXACT [Orphanet:506]
synonym: "juvenile subacute necrotizing encephalomyelopathy" EXACT [DOID:3652]
synonym: "Leigh disease" EXACT [Orphanet:506]
synonym: "Leigh syndrome" EXACT CLINGEN_LABEL [DOID:3652, MONDO:Lexical, OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 1 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 2 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 3 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 4 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome due to mitochondrial Complex 5 deficiency" RELATED [OMIM:256000]
synonym: "Leigh syndrome spectrum" EXACT [https://orcid.org/0000-0002-5478-8046, https://www.clinicalgenome.org/affiliation/40027/]
synonym: "Leigh's disease" EXACT [NCIT:C84814]
synonym: "Leigh's necrotizing encephalopathy" RELATED [GARD:0006877]
synonym: "LS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256000]
synonym: "LSS" EXACT ABBREVIATION [https://orcid.org/0000-0002-5478-8046, https://www.clinicalgenome.org/affiliation/40027/]
synonym: "necrotizing encephalopathy, infantile Subacute, of Leigh" RELATED [GARD:0006877, OMIM:256000]
synonym: "SNE" RELATED ABBREVIATION [GARD:0006877]
synonym: "subacute necrotizing encephalomyelopathy" RELATED [DOID:3652]
synonym: "subacute necrotizing encephalopathy" RELATED [GARD:0006877]
xref: DOID:3652 {source="MONDO:equivalentTo"}
xref: GARD:6877 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:506/inclusion", source="Orphanet:506", source="Orphanet:506/ntbt"}
xref: ICD10CM:G31.82 {source="DOID:3652"}
xref: icd11.foundation:672871576 {source="MONDO:equivalentTo", source="Orphanet:506"}
xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062950 {source="Orphanet:506", source="Orphanet:506/e"}
xref: MEDGEN:44095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007888 {source="DOID:3652", source="MONDO:equivalentTo", source="Orphanet:506", source="Orphanet:506/e"}
xref: NANDO:1200175 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200527 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84814 {source="DOID:3652", source="MONDO:equivalentTo"}
xref: NORD:1355 {source="MONDO:NORD"}
xref: OMIM:256000 {source="DOID:3652", source="MONDO:equivalentTo", source="Orphanet:506", source="Orphanet:506/e"}
xref: Orphanet:255210 {source="OMIM:256000"}
xref: Orphanet:506 {source="DOID:3652", source="OMIM:256000", source="MONDO:equivalentTo"}
xref: SCTID:29570005 {source="DOID:3652", source="MONDO:equivalentTo"}
xref: UMLS:C0023264 {source="MEDGEN:44095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0020257 {source="Orphanet:506", source="https://orcid.org/0000-0001-5208-3432"} ! supranuclear oculomotor palsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6090" xsd:anyURI

[Term]
id: MONDO:0009724
name: nail-patella-like renal disease
def: "A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:2613]
subset: gard_rare {source="GARD:321", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2613"}
subset: orphanet_rare {source="Orphanet:2613"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "focal segmental glomerulosclerosis 10" EXACT [OMIM:256020, OMIM:genemap2]
synonym: "glomerular basement Membrane disease, nail-patella syndrome type" RELATED [OMIM:256020]
synonym: "nail patella like renal disease" RELATED [GARD:0000321]
synonym: "nail-patella-like renal disease" EXACT [OMIM:256020]
synonym: "Salcedo syndrome" EXACT [Orphanet:2613]
xref: GARD:321 {source="MONDO:GARD"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537228 {source="MONDO:equivalentTo"}
xref: OMIM:256020 {source="MONDO:equivalentTo", source="Orphanet:2613", source="Orphanet:2613/e"}
xref: Orphanet:2613 {source="OMIM:256020", source="MONDO:equivalentTo"}
xref: SCTID:236527004 {source="MONDO:equivalentTo"}
xref: UMLS:C0403548 {source="MEDGEN:140789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009725
name: nemaline myopathy 2
def: "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." [NCIT:C118784]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15209", source="MONDO:GARD"}
subset: rare
synonym: "NEB nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM2" EXACT ABBREVIATION [DOID:0110928, MONDO:Lexical, OMIM:256030]
synonym: "nemaline myopathy 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:256030]
synonym: "nemaline myopathy 2, autosomal recessive" EXACT [DOID:0110928]
synonym: "nemaline myopathy caused by mutation in NEB" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 2" EXACT [DOID:0110928, MONDORULE:1, OMIM:256030]
xref: DOID:0110928 {source="MONDO:equivalentTo"}
xref: GARD:15209 {source="MONDO:GARD"}
xref: MEDGEN:342534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538349 {source="MONDO:equivalentTo"}
xref: NCIT:C118784 {source="MONDO:equivalentTo"}
xref: OMIM:256030 {source="MONDO:equivalentTo", source="DOID:0110928"}
xref: Orphanet:607 {source="OMIM:256030"}
xref: UMLS:C1850569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342534"}
is_a: MONDO:0005336 {source="DOID:0110928/inferred", source="MONDO:Redundant", source="NCIT:C118784"} ! myopathy
is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy
is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110928", source="MESH:C538349", source="MONDO:Redundant", source="OMIM:256030"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7720 ! NEB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7720 {source="MONDO:mim2gene_medgen"} ! NEB

[Term]
id: MONDO:0009726
name: proteosome-associated autoinflammatory syndrome
subset: gard_rare {source="GARD:13824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324977"}
subset: orphanet_rare {source="Orphanet:324977"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256040]
synonym: "ALDD syndrome" EXACT [Orphanet:324977]
synonym: "amyotrophy fat tissue anomaly" RELATED [GARD:0003916]
synonym: "amyotrophy-fat tissue anomaly syndrome" RELATED [Orphanet:2615]
synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" EXACT [MONDO:Lexical, OMIM:256040]
synonym: "autoinflammation-lipodystrophy-dermatosis syndrome" EXACT [Orphanet:324977]
synonym: "CANDLE syndrome" EXACT [GARD:0010811, MONDO:0017960]
synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature" EXACT [GARD:0010811]
synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT [OMIM:256040]
synonym: "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" EXACT [GARD:0010811, Orphanet:325004]
synonym: "JMP syndrome" EXACT [MONDO:0017959]
synonym: "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy" EXACT OMO:0003005 []
synonym: "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy" EXACT [GARD:0010988]
synonym: "Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" EXACT [OMIM:256040]
synonym: "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" EXACT [DOID:0050553]
synonym: "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" EXACT [Orphanet:324999]
synonym: "Nakajo Nishimura syndrome" EXACT [GARD:0003916]
synonym: "Nakajo syndrome" EXACT [GARD:0003917]
synonym: "Nakajo-Nishimura syndrome" EXACT [MONDO:0016849, OMIM:256040]
synonym: "NNS" EXACT ABBREVIATION [Orphanet:2615]
synonym: "nodular erythema digital changes" RELATED [GARD:0003917]
synonym: "PRAAS" EXACT ABBREVIATION [Orphanet:324977]
synonym: "proteasome disability syndrome" EXACT [Orphanet:324977]
synonym: "proteasome-associated autoinflammatory syndrome" EXACT [Orphanet:324977]
synonym: "secondary hypertrophic osteoperiostosis with pernio" EXACT [Orphanet:2615]
xref: DOID:0050553 {source="MONDO:equivalentTo"}
xref: DOID:0060913 {source="MONDO:equivalentTo"}
xref: GARD:13824 {source="MONDO:GARD"}
xref: ICD10CM:L98.8 {source="Orphanet:2615/attributed", source="Orphanet:2615/ntbt", source="Orphanet:2615"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:376827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538334 {source="MONDO:equivalentTo"}
xref: NANDO:1200867 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200435 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:256040 {source="MONDO:equivalentTo"}
xref: Orphanet:1953 {source="GARD:0003917"}
xref: Orphanet:2615 {source="OMIM:256040", source="MONDO:equivalentObsolete"}
xref: Orphanet:324977 {source="OMIM:256040", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:324999 {source="OMIM:256040", source="MONDO:equivalentObsolete"}
xref: Orphanet:325004 {source="OMIM:256040", source="MONDO:equivalentObsolete", source="GARD:0010811"}
xref: SCTID:702449004 {source="MONDO:equivalentTo"}
xref: UMLS:C1850568 {source="MEDGEN:376827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0006025 {source="DOID:0050553", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome
is_a: MONDO:0957408 {source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: disease_has_feature HP:0001387 ! Joint stiffness
relationship: disease_has_feature HP:0009125 ! Lipodystrophy
relationship: disease_has_feature HP:0009473 ! Joint contracture of the hand
relationship: has_characteristic HP:0000007 {source="Orphanet:324999"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256040"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10811/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature" xsd:anyURI {source="GARD:0010811"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome" xsd:anyURI {source="GARD:0010988"}

[Term]
id: MONDO:0009727
name: atelosteogenesis type II
def: "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." [https://orcid.org/0000-0001-5208-3432, Orphanet:56304]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:56304"}
subset: ordo_malformation_syndrome {source="Orphanet:56304"}
subset: orphanet_rare {source="Orphanet:56304"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AO2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256050, Orphanet:56304]
synonym: "AOII" EXACT ABBREVIATION [OMIM:256050, Orphanet:56304]
synonym: "atelosteogenesis II" RELATED [GARD:0008329]
synonym: "atelosteogenesis type 2" EXACT [Orphanet:56304]
synonym: "atelosteogenesis type II" EXACT CLINGEN_LABEL []
synonym: "atelosteogenesis, type 2" RELATED [OMIM:256050]
synonym: "atelosteogenesis, type II" RELATED [MONDO:Lexical, OMIM:256050]
synonym: "De 50A Chapelle dysplasia" RELATED [OMIM:256050]
synonym: "De la Chapelle dysplasia" RELATED [Orphanet:56304]
synonym: "neonatal osseous dysplasia 1" RELATED [OMIM:256050]
synonym: "neonatal osseous dysplasia type 1" EXACT [Orphanet:56304]
xref: GARD:8329 {source="MONDO:GARD"}
xref: ICD10CM:Q77.5 {source="Orphanet:56304/attributed", source="Orphanet:56304/ntbt", source="Orphanet:56304", source="MONDO:directSiblingOf"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:338072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535395 {source="Orphanet:56304", source="MONDO:equivalentTo", source="Orphanet:56304/e"}
xref: OMIM:256050 {source="Orphanet:56304", source="MONDO:equivalentTo", source="Orphanet:56304/e"}
xref: Orphanet:56304 {source="MONDO:equivalentTo", source="OMIM:256050"}
xref: SCTID:254055004 {source="MONDO:equivalentTo"}
xref: UMLS:C1850554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338072"}
is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease
is_a: MONDO:0000389 {source="DC-OMIM:256050", source="OMIM:256050"} ! atelosteogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:56304", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:56304", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI

[Term]
id: MONDO:0009728
name: nephronophthisis 1
def: "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." [NCIT:C74998]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93592"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial juvenile nephronophthisis" EXACT [NCIT:C74998]
synonym: "juvenile nephronophthisis" EXACT [NCIT:C74998]
synonym: "juvenile nephronophthisis 1" EXACT [DOID:0111112]
synonym: "nephronophthisis (disease) caused by mutation in NPHP1" EXACT []
synonym: "nephronophthisis 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:256100]
synonym: "nephronophthisis 1, juvenile" EXACT [OMIM:256100, OMIM:genemap2]
synonym: "nephronophthisis type 1" EXACT [DOID:0111112, MONDORULE:1, OMIM:256100]
synonym: "nephronophthisis, familial juvenile" RELATED [OMIM:256100]
synonym: "NPH1" EXACT ABBREVIATION [DOID:0111112]
synonym: "Nph1" RELATED [OMIM:256100]
synonym: "NPHP1" EXACT ABBREVIATION [DOID:0111112, MONDO:Lexical, OMIM:256100]
synonym: "NPHP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111112 {source="MONDO:equivalentTo"}
xref: GARD:18645 {source="MONDO:GARD"}
xref: ICD10CM:Q61.5 {source="Orphanet:93592", source="Orphanet:93592/attributed", source="Orphanet:93592/ntbt"}
xref: MEDGEN:343406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537699 {source="MONDO:equivalentTo"}
xref: NANDO:1201036 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200140 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C74998 {source="MONDO:equivalentTo"}
xref: OMIM:256100 {source="MONDO:equivalentTo", source="DOID:0111112"}
xref: Orphanet:655 {source="OMIM:256100"}
xref: Orphanet:93592 {source="MONDO:equivalentTo"}
xref: SCTID:444830001 {source="MONDO:equivalentTo"}
xref: UMLS:C1855681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343406"}
is_a: MONDO:0002254 {source="NCIT:C74998"} ! syndromic disease
is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0019005 {source="DC-OMIM:256100", source="DOID:0111112", source="MONDO:Redundant", source="OMIM:256100", source="Orphanet:93592"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 ! NPHP1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:256100", source="Orphanet:93592"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 {source="MONDO:mim2gene_medgen"} ! NPHP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009729
name: nephropathy - deafness - hyperparathyroidism syndrome
def: "Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." [Orphanet:2668]
subset: gard_rare {source="GARD:3940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2668"}
subset: ordo_malformation_syndrome {source="Orphanet:2668"}
subset: orphanet_rare {source="Orphanet:2668"}
subset: rare
synonym: "Edwards Patton Dilly syndrome" RELATED [GARD:0003940]
synonym: "Edwards-Patton-Dilly syndrome" EXACT [Orphanet:2668]
synonym: "nephropathy - deafness - hyperparathyroidism" RELATED [GARD:0003940]
synonym: "nephropathy, deafness, and hyperparathyroidism" RELATED [OMIM:256120]
xref: GARD:3940 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2668", source="Orphanet:2668/attributed", source="Orphanet:2668/ntbt"}
xref: MEDGEN:340569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536401 {source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"}
xref: OMIM:256120 {source="GARD:0003940", source="MONDO:equivalentTo", source="Orphanet:2668", source="Orphanet:2668/e"}
xref: Orphanet:2668 {source="GARD:0003940", source="OMIM:256120", source="MONDO:equivalentTo"}
xref: SCTID:724093004 {source="MONDO:equivalentTo"}
xref: UMLS:C1850553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340569"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003847 {source="Orphanet:2668/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism" xsd:anyURI {source="GARD:0003940"}

[Term]
id: MONDO:0009730
name: obsolete nephrosialidosis
is_obsolete: true
replaced_by: MONDO:0009738

[Term]
id: MONDO:0009731
name: nephrosis-deafness-urinary tract-digital malformations syndrome
def: "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." [Orphanet:2669]
subset: gard_rare {source="GARD:3943", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2669"}
subset: ordo_malformation_syndrome {source="Orphanet:2669"}
subset: orphanet_rare {source="Orphanet:2669"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Braun-Bayer syndrome" EXACT [Orphanet:2669]
synonym: "nephrosis deafness urinary tract digital malformation" RELATED [GARD:0003943]
synonym: "nephrosis with deafness and urinary tract and digital malformations" RELATED [OMIM:256200]
xref: GARD:3943 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2669", source="Orphanet:2669/attributed", source="Orphanet:2669/ntbt"}
xref: MEDGEN:340568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536402 {source="MONDO:equivalentTo", source="Orphanet:2669", source="Orphanet:2669/e"}
xref: OMIM:256200 {source="MONDO:equivalentTo", source="Orphanet:2669", source="Orphanet:2669/e"}
xref: Orphanet:2669 {source="MONDO:equivalentTo", source="OMIM:256200"}
xref: UMLS:C1850552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340568"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2669"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009732
name: congenital nephrotic syndrome, Finnish type
def: "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life." [Orphanet:839]
subset: gard_rare {source="GARD:1500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:839"}
subset: orphanet_rare {source="Orphanet:839"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CnF" RELATED [GARD:0001500]
synonym: "congenital nephrotic syndrome - Finnish type" EXACT [NCIT:C122795]
synonym: "congenital nephrotic syndrome 1" RELATED [GARD:0001500]
synonym: "congenital nephrotic syndrome Finnish type" RELATED [GARD:0001500]
synonym: "congenital nephrotic syndrome, Finnish type" EXACT CLINGEN_LABEL []
synonym: "Finnish congenital nephrosis" EXACT [OMIM:256300, Orphanet:839]
synonym: "nephrosis 1, congenital, Finnish type" RELATED [GARD:0001500]
synonym: "nephrosis, congenital" RELATED [GARD:0001500]
synonym: "nephrotic syndrome - NPHS1 associated" EXACT [NCIT:C122795]
synonym: "nephrotic syndrome, congenital" RELATED [OMIM:256300]
synonym: "nephrotic syndrome, type 1" RELATED [MONDO:Lexical, OMIM:256300]
synonym: "NPHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256300]
xref: DOID:0080390 {source="MONDO:equivalentTo"}
xref: GARD:1500 {source="MONDO:GARD"}
xref: ICD10CM:N04.8 {source="Orphanet:839/attributed", source="Orphanet:839/ntbt", source="Orphanet:839"}
xref: MedDRA:10060740 {source="Orphanet:839/e", source="Orphanet:839"}
xref: MEDGEN:98011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535761 {source="Orphanet:839/e", source="Orphanet:839"}
xref: NANDO:2200110 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122795 {source="MONDO:equivalentTo"}
xref: OMIM:256300 {source="Orphanet:839/e", source="MONDO:equivalentTo", source="Orphanet:839"}
xref: Orphanet:839 {source="MONDO:equivalentTo", source="OMIM:256300"}
xref: SCTID:197601003 {source="MONDO:equivalentTo"}
xref: UMLS:C0403399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98011"}
is_a: MONDO:0002350 {source="OMIM:256300"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="DC-OMIM:256300", source="MONDO:0009732/inferred", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="NCIT:C122795", source="OMIM:256300"} ! nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7908 ! NPHS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7908 {source="MONDO:mim2gene_medgen"} ! NPHS1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type" xsd:anyURI {source="GARD:0001500"}

[Term]
id: MONDO:0009733
name: nephrotic syndrome, type 4
def: "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis." [NCIT:C121198]
subset: gard_rare {source="GARD:15210", source="MONDO:GARD"}
subset: rare
synonym: "congenital nephrotic syndrome - diffuse mesangial sclerosis" EXACT [NCIT:C121198]
synonym: "diffuse isolated mesangial sclerosis" RELATED [GARD:0003547]
synonym: "diffuse mesangial sclerosis" RELATED [GARD:0003547]
synonym: "DMS" RELATED ABBREVIATION [GARD:0003547]
synonym: "familial mesangial sclerosis" RELATED [GARD:0003547]
synonym: "isolated diffuse mesangial sclerosis" RELATED [GARD:0003547]
synonym: "mesangial sclerosis, diffuse" RELATED [GARD:0003547]
synonym: "nephrotic syndrome caused by mutation in WT1" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, early onset with diffuse mesangial sclerosis" RELATED [GARD:0003547]
synonym: "nephrotic syndrome, type 4" EXACT [MONDO:Lexical, OMIM:256370]
synonym: "NPHS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256370]
synonym: "WT1 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080383 {source="MONDO:equivalentTo"}
xref: GARD:15210 {source="MONDO:GARD"}
xref: MEDGEN:462918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121198 {source="MONDO:equivalentTo"}
xref: OMIM:256370 {source="MONDO:equivalentTo"}
xref: UMLS:C3151568 {source="MEDGEN:462918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002350 {source="NCIT:C121198", source="OMIM:256370"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="NCIT:C121198/inferred", source="OMIM:256370"} ! nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 ! WT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1

[Term]
id: MONDO:0009734
name: hyperinsulinemic hypoglycemia, familial, 1
def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABCC8 hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "HHF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256450]
synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:256450]
synonym: "hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hyperinsulinemic hypoglycemia, familial, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:256450]
synonym: "hyperinsulinemic hypoglycemia, familial, type 1" EXACT [MONDORULE:1, OMIM:256450]
synonym: "hyperinsulinism, congenital" RELATED [OMIM:256450]
synonym: "hyperinsulinism, familial, with pancreatic Nesidioblastosis" RELATED [OMIM:256450]
synonym: "hypoglycemia, hyperinsulinemic, of infancy" RELATED [OMIM:256450]
synonym: "Nesidioblastosis of pancreas" RELATED [OMIM:256450]
synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [OMIM:256450]
xref: DOID:0070219 {source="MONDO:equivalentTo"}
xref: MEDGEN:419505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:256450 {source="MONDO:equivalentTo"}
xref: Orphanet:276575 {source="OMIM:256450", source="MONDO:directSiblingOf"}
xref: Orphanet:276598 {source="OMIM:256450"}
xref: Orphanet:79643 {source="OMIM:256450"}
xref: SCTID:360339005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931832 {source="MEDGEN:419505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005803 {source="DC-OMIM:256450", source="MONDO:Redundant"} ! hyperinsulinemic hypoglycemia
intersection_of: MONDO:0005803 ! hyperinsulinemic hypoglycemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 ! ABCC8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 {source="MONDO:mim2gene_medgen"} ! ABCC8

[Term]
id: MONDO:0009735
name: Netherton syndrome
def: "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." [Orphanet:634]
subset: gard_rare {source="GARD:7182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1290"}
subset: ordo_disorder {source="Orphanet:634"}
subset: orphanet_rare {source="Orphanet:634"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bamboo hair syndrome" EXACT [Orphanet:634]
synonym: "Comel-Netherton syndrome" RELATED [OMIM:256500]
synonym: "Comèl-Netherton syndrome" EXACT [Orphanet:634]
synonym: "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE" RELATED [OMIM:256500]
synonym: "Ichthyosis, Netherton Syndrome" EXACT [NORD:1290]
synonym: "neth" RELATED [MONDO:Lexical, OMIM:256500]
synonym: "Netherton disease" RELATED [OMIM:256500]
synonym: "Netherton syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:256500]
synonym: "NS" EXACT ABBREVIATION [OMIM:256500, Orphanet:634]
xref: DOID:0050474 {source="MONDO:equivalentTo"}
xref: GARD:7182 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:634", source="Orphanet:634/attributed", source="Orphanet:634/ntbt"}
xref: MedDRA:10062909 {source="Orphanet:634", source="Orphanet:634/e"}
xref: MEDGEN:1802991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056770 {source="DOID:0050474", source="MONDO:equivalentTo"}
xref: NANDO:1200338 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200619 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200993 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84922 {source="DOID:0050474", source="MONDO:equivalentTo"}
xref: NORD:1290 {source="MONDO:NORD"}
xref: OMIM:256500 {source="DOID:0050474", source="Orphanet:634", source="MONDO:equivalentTo", source="Orphanet:634/e"}
xref: Orphanet:634 {source="MONDO:equivalentTo", source="OMIM:256500"}
xref: SCTID:205555008 {source="DOID:0050474"}
xref: SCTID:239058007 {source="DOID:0050474"}
xref: SCTID:254127001 {source="DOID:0050474"}
xref: SCTID:312514006 {source="DOID:0050474", source="MONDO:equivalentTo"}
xref: SCTID:34638006 {source="DOID:0050474"}
xref: SCTID:54336006 {source="DOID:0050474", source="MONDO:directSiblingOf"}
xref: UMLS:C5574950 {source="MEDGEN:1802991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84922"} ! syndromic disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0006025 {source="DOID:0050474", source="MONDO:indirect"} ! autosomal recessive disease
is_a: MONDO:0018037 {source="Orphanet:634"} ! hyper-IgE syndrome
is_a: MONDO:0019269 {source="MESH:D056770/inferred", source="MONDO:Redundant", source="NCIT:C84922", source="Orphanet:634/inferred"} ! ichthyosis
relationship: disease_has_feature HP:0000499 {source="Orphanet:634"} ! Abnormal eyelash morphology
relationship: disease_has_feature HP:0000534 {source="Orphanet:634"} ! Abnormal eyebrow morphology
relationship: excluded_subClassOf MONDO:0020189 {source="Orphanet:634", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes structural anomaly
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:256500", source="Orphanet:634"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15464 {source="MONDO:mim2gene_medgen"} ! SPINK5
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome" xsd:anyURI {source="GARD:0007182"}

[Term]
id: MONDO:0009736
name: Neu-Laxova syndrome 1
def: "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:583607"}
subset: rare
synonym: "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" EXACT [Orphanet:2671]
synonym: "3-phosphoglycerate dehydrogenase deficiency, prenatal form" EXACT [Orphanet:583607]
synonym: "Neu-Laxova syndrome" RELATED [OMIM:256520]
synonym: "Neu-Laxova syndrome 1" EXACT [MONDO:Lexical, OMIM:256520]
synonym: "Neu-Laxova syndrome caused by mutation in PHGDH" EXACT [MONDO:design_pattern]
synonym: "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency" EXACT [Orphanet:583607]
synonym: "Neu-Laxova syndrome type 1" EXACT [DOID:0080076, MONDORULE:1, OMIM:256520]
synonym: "NLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256520]
synonym: "PHGDH Neu-Laxova syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080076 {source="MONDO:equivalentTo"}
xref: GARD:22336 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:583607"}
xref: ICD10CM:Q87.8 {source="Orphanet:2671"}
xref: MEDGEN:1633287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536405 {source="Orphanet:2671"}
xref: OMIM:256520 {source="Orphanet:2671", source="DOID:0080076", source="MONDO:equivalentTo"}
xref: Orphanet:583607 {source="MONDO:equivalentTo"}
xref: UMLS:C4551478 {source="MEDGEN:1633287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000179 {source="DC-OMIM:256520", source="MONDO:Redundant", source="OMIM:256520"} ! Neu-Laxova syndrome
intersection_of: MONDO:0000179 ! Neu-Laxova syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8923 ! PHGDH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8923 {source="MONDO:mim2gene_medgen"} ! PHGDH

[Term]
id: MONDO:0009737
name: galactosialidosis
def: "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." [Orphanet:351]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:351"}
subset: orphanet_rare {source="Orphanet:351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cathepsin A deficiency" RELATED [OMIM:256540]
synonym: "cathepsin A deficiency of" RELATED [GARD:0003953]
synonym: "galactosialidosis" EXACT [MONDO:Lexical, OMIM:256540]
synonym: "Goldberg syndrome" EXACT [OMIM:256540, Orphanet:351]
synonym: "GSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256540]
synonym: "lysosomal protective Protein deficiency" RELATED [OMIM:256540]
synonym: "lysosomal protective protein deficiency of" RELATED [GARD:0003953]
synonym: "neuraminidase deficiency with beta-galactosidase deficiency" EXACT [OMIM:256540, Orphanet:351]
synonym: "neuraminidase/Beta-galactosidase expression" RELATED [OMIM:256540]
synonym: "PPCA deficiency" RELATED [OMIM:256540]
synonym: "protective Protein/Cathepsin a deficiency" RELATED [OMIM:256540]
xref: DOID:0080540 {source="MONDO:equivalentTo"}
xref: GARD:3953 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:351", source="Orphanet:351/attributed", source="Orphanet:351/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536411 {source="Orphanet:351/e", source="MONDO:equivalentTo", source="Orphanet:351"}
xref: NANDO:1200119 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200557 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129928 {source="MONDO:equivalentTo"}
xref: OMIM:256540 {source="Orphanet:351/e", source="MONDO:equivalentTo", source="Orphanet:351"}
xref: Orphanet:351 {source="OMIM:256540", source="MONDO:equivalentTo"}
xref: SCTID:35691006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82779"}
is_a: MONDO:0002561 {source="MESH:C536411", source="MONDO:Redundant", source="NCIT:C129928", source="Orphanet:351/inferred"} ! lysosomal storage disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019251 {source="Orphanet:351"} ! oligosaccharidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9251 {source="MONDO:mim2gene_medgen"} ! CTSA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis" xsd:anyURI {source="GARD:0003953"}

[Term]
id: MONDO:0009738
name: sialidosis type 2
def: "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." [Orphanet:87876]
subset: gard_rare {source="GARD:7183", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:87876"}
subset: orphanet_rare {source="Orphanet:87876"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cherry Red spot--myoclonus syndrome" RELATED [OMIM:256550]
synonym: "dysmorphic sialidosis" EXACT []
synonym: "dysmorphic sialidosis with renal involvement" EXACT []
synonym: "glycoprotein neuraminidase deficiency" RELATED [OMIM:256550]
synonym: "glycoproteinosis" RELATED [DOID:3343]
synonym: "infantile dysmorphic sialidosis" EXACT [Orphanet:87876]
synonym: "lipomucopolysaccharidosis" RELATED [OMIM:256550]
synonym: "ML 1" RELATED [OMIM:256550]
synonym: "ML1" RELATED ABBREVIATION [GARD:0007183]
synonym: "mucolipidosis 1" RELATED [OMIM:256550]
synonym: "mucolipidosis I" EXACT [NCIT:C125596]
synonym: "mucolipidosis type 1" RELATED [GARD:0007183]
synonym: "mucolipidosis type I" EXACT [DOID:3343]
synonym: "myoclonus--cherry Red spot syndrome" RELATED [OMIM:256550]
synonym: "nephrosialidosis" EXACT [MONDO:0009730, OMIM:256150]
synonym: "NEU 1 deficiency" RELATED [GARD:0007183]
synonym: "Neu deficiency" RELATED [OMIM:256550]
synonym: "Neu1 deficiency" RELATED [OMIM:256550]
synonym: "NEU1 sialidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Neug deficiency" RELATED [OMIM:256550]
synonym: "neuraminidase 1 deficiency" RELATED [OMIM:256550]
synonym: "neuraminidase deficiency" RELATED [OMIM:256550]
synonym: "sialidase deficiency" RELATED [OMIM:256550]
synonym: "sialidosis" BROAD [DOID:3343]
synonym: "sialidosis caused by mutation in NEU1" EXACT [MONDO:design_pattern]
synonym: "sialidosis type II" EXACT [NCIT:C125596]
synonym: "sialidosis, type 1" RELATED [OMIM:256550]
synonym: "sialidosis, type 2" EXACT [OMIM:256550]
synonym: "sialidosis, type I" EXACT [OMIM:256550, OMIM:genemap2]
synonym: "sialidosis, type II" RELATED [GARD:0007183]
xref: DOID:3343 {source="MONDO:equivalentTo"}
xref: GARD:7183 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:87876/attributed", source="Orphanet:87876/ntbt", source="DOID:3343", source="Orphanet:87876"}
xref: MEDGEN:924303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562606 {source="MONDO:equivalentTo"}
xref: MESH:D009081 {source="DOID:3343"}
xref: NANDO:1200118 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200120 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201192 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201193 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125596 {source="MONDO:equivalentTo"}
xref: NCIT:C61267 {source="DOID:3343", source="MONDO:directSiblingOf"}
xref: OMIM:256150 {source="Orphanet:87876/btnt", source="Orphanet:87876", source="MONDO:equivalentTo"}
xref: OMIM:256550 {source="DOID:3343", source="Orphanet:87876", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:87876/e"}
xref: Orphanet:812 {source="OMIM:256550", source="MONDO:directSiblingOf"}
xref: Orphanet:87876 {source="OMIM:256150", source="OMIM:256550", source="MONDO:equivalentTo"}
xref: SCTID:52186006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:70528007 {source="DOID:3343", source="MONDO:directSiblingOf"}
xref: SCTID:81896006 {source="MONDO:equivalentTo"}
xref: UMLS:C4282398 {source="MEDGEN:924303", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015327 {source="Orphanet:87876", source="Orphanet:87876/inferred"} ! developmental anomaly of metabolic origin
is_a: MONDO:0017734 {source="MONDO:Redundant", source="Orphanet:87876"} ! sialidosis
is_a: MONDO:0031422 {source="OMIM:256550"} ! familial mucolipidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
intersection_of: MONDO:0017734 ! sialidosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7758 ! NEU1
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: disease_has_feature MONDO:0002331 {source="MONDO:0009730"} ! nephrosis
relationship: excluded_subClassOf MONDO:0005328 {source="Orphanet:87876", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0005381 {source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:87876", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:87876", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7758 {source="MONDO:mim2gene_medgen"} ! NEU1
property_value: IAO:0000233 "https://github.com/monarch-initiative/monarch-disease-ontology/issues/227" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009739
name: obsolete infantile neuroaxonal dystrophy
xref: NANDO:2200887 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/204" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024457

[Term]
id: MONDO:0009740
name: neurofaciodigitorenal syndrome
def: "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." [Orphanet:2673]
subset: gard_rare {source="GARD:3964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2673"}
subset: ordo_malformation_syndrome {source="Orphanet:2673"}
subset: orphanet_rare {source="Orphanet:2673"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Freire Maia-Pinheiro-Opitz syndrome" EXACT [Orphanet:2673]
synonym: "Freire-Maia Pinheiro Opitz syndrome" RELATED [GARD:0003964]
synonym: "neurofaciodigitorenal syndrome" EXACT [OMIM:256690]
synonym: "Nfdr syndrome" RELATED [OMIM:256690]
xref: GARD:3964 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2673/attributed", source="Orphanet:2673/ntbt", source="Orphanet:2673"}
xref: MEDGEN:163212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537388 {source="Orphanet:2673", source="MONDO:equivalentTo", source="Orphanet:2673/e"}
xref: OMIM:256690 {source="Orphanet:2673", source="MONDO:equivalentTo", source="Orphanet:2673/e"}
xref: Orphanet:2673 {source="OMIM:256690", source="MONDO:equivalentTo"}
xref: SCTID:725908007 {source="MONDO:equivalentTo"}
xref: UMLS:C0796088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163212"}
is_a: MONDO:0015159 {source="Orphanet:2673"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2673", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome" xsd:anyURI {source="GARD:0003964"}

[Term]
id: MONDO:0009741
name: neuroblastoma, susceptibility to, 1
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "neuroblastoma, susceptibility to" BROAD [OMIM:256700]
synonym: "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" EXACT [OMIM:256700, OMIM:genemap2]
synonym: "susceptibility to neuroblastoma" BROAD [OMIM:256700]
xref: MEDGEN:412713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:256700 {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:256700"}
xref: UMLS:C2749485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412713"}
is_a: MONDO:0020573 {source="OMIM:256700"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16636 ! KIF1B
intersection_of: predisposes_towards MONDO:0005072 ! neuroblastoma
relationship: predisposes_towards MONDO:0005072 {source="OMIM:256700"} ! neuroblastoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009742
name: neuroectodermal melanolysosomal disease
def: "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment." [Orphanet:33445]
subset: gard_rare {source="GARD:16630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33445"}
subset: ordo_malformation_syndrome {source="Orphanet:33445"}
subset: orphanet_rare {source="Orphanet:33445"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ELEJALDE disease" RELATED [OMIM:256710]
synonym: "Elejalde disease" EXACT [Orphanet:33445]
synonym: "neuroectodermal melanolysosomal disease" EXACT [OMIM:256710]
xref: GARD:16630 {source="MONDO:GARD"}
xref: ICD10CM:L81.4 {source="Orphanet:33445", source="Orphanet:33445/attributed", source="Orphanet:33445/ntbt"}
xref: MEDGEN:348553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536203 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"}
xref: OMIM:256710 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"}
xref: Orphanet:33445 {source="MONDO:equivalentTo", source="OMIM:256710"}
xref: SCTID:724091002 {source="MONDO:equivalentTo"}
xref: UMLS:C1860157 {source="MEDGEN:348553", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:33445", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:33445", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0009743
name: neurologic disease, infantile multisystem, with osseous fragility
synonym: "neurologic disease, infantile multisystem, with osseous fragility" EXACT [OMIM:256720]
xref: MEDGEN:338057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564954 {source="MONDO:equivalentTo"}
xref: OMIM:256720 {source="MONDO:equivalentTo"}
xref: UMLS:C1850465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338057"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009744
name: neuronal ceroid lipofuscinosis 1
def: "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." [NCIT:C85861]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228329"}
subset: ordo_etiological_subtype {source="Orphanet:228329"}
subset: orphanet_rare {source="Orphanet:228329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult CLN (type of CLN1)" NARROW [GARD:0001219]
synonym: "ceroid lipofuscinosis neuronal 1" EXACT [GARD:0001219]
synonym: "ceroid lipofuscinosis, neuronal, 1" EXACT [MONDO:Lexical, OMIM:256730]
synonym: "ceroid lipofuscinosis, neuronal, 1, variable Age at onset" EXACT [OMIM:256730]
synonym: "ceroid lipofuscinosis, neuronal, type 1" EXACT [MONDORULE:1, OMIM:256730]
synonym: "ceroid storage disease" EXACT [OMIM:214200]
synonym: "classic late infantile CLN (type of CLN1)" NARROW [GARD:0001219]
synonym: "CLN1" EXACT ABBREVIATION [DOID:0110721, MONDO:Lexical, OMIM:256730]
synonym: "CLN1 disease" EXACT [Orphanet:228329]
synonym: "CLN1 variable age at onset" EXACT [GARD:0001219]
synonym: "congenital NCL" RELATED [Orphanet:168486]
synonym: "congenital neuronal ceroid lipofuscinosis" RELATED [MONDO:0008956]
synonym: "infantile CLN (type of CLN1)" NARROW [GARD:0001219]
synonym: "infantile neuronal ceroid lipofuscinosis" NARROW [NCIT:C85861]
synonym: "juvenile CLN (type of CLN1)" NARROW [GARD:0001219]
synonym: "lipofuscin storage disease" RELATED [OMIM:214200]
synonym: "neuronal ceroid lipofuscinosis 1" EXACT CLINGEN_LABEL []
synonym: "neuronal ceroid lipofuscinosis 1 variable age of onset" EXACT [DOID:0110721]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in PPT1" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 1" EXACT [DOID:0110721, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, infantile" NARROW [OMIM:256730]
synonym: "PPT1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Santavuori disease" NARROW [OMIM:256730]
synonym: "Santavuori-Haltia disease" NARROW [OMIM:256730]
xref: DOID:0110721 {source="MONDO:equivalentTo"}
xref: GARD:1219 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110721", source="Orphanet:168486", source="Orphanet:228329/attributed", source="Orphanet:228329/ntbt", source="Orphanet:168486/attributed", source="Orphanet:168486/ntbt", source="Orphanet:228329"}
xref: MEDGEN:340540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200152 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201241 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85861 {source="MONDO:equivalentTo"}
xref: OMIM:214200 {source="MONDO:equivalentObsolete"}
xref: OMIM:256730 {source="DOID:0110721", source="Orphanet:228329", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:228329/e"}
xref: Orphanet:168486 {source="MONDO:relatedTo"}
xref: Orphanet:168491 {source="OMIM:256730"}
xref: Orphanet:228329 {source="DOID:0110721", source="MONDO:equivalentTo", source="OMIM:256730"}
xref: Orphanet:79262 {source="MONDO:OtherRelationship", source="OMIM:256730"}
xref: Orphanet:79263 {source="MONDO:OtherRelationship", source="OMIM:214200", source="OMIM:256730"}
xref: Orphanet:79264 {source="MONDO:OtherRelationship", source="OMIM:256730"}
xref: SCTID:720830009 {source="MONDO:equivalentTo"}
xref: UMLS:C1850451 {source="MEDGEN:340540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016295 {source="DOID:0110721", source="MONDO:Redundant", source="NCIT:C85861", source="OMIM:256730", source="Orphanet:228329/inferred"} ! neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9325 ! PPT1
relationship: excluded_subClassOf MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228329", source="https://orcid.org/0000-0001-5208-3432"} ! late infantile neuronal ceroid lipofuscinosis
relationship: excluded_subClassOf MONDO:0019260 {source="Orphanet:228329", source="Orphanet:79262/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! adult neuronal ceroid lipofuscinosis
relationship: excluded_subClassOf MONDO:0019261 {source="Orphanet:228329", source="Orphanet:79263/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! infantile neuronal ceroid lipofuscinosis
relationship: excluded_subClassOf MONDO:0019262 {source="Orphanet:228329", source="Orphanet:79264/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! juvenile neuronal ceroid lipofuscinosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9325 {source="MONDO:mim2gene_medgen"} ! PPT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2665" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1" xsd:anyURI {source="GARD:0001219"}

[Term]
id: MONDO:0009745
name: neuronal ceroid lipofuscinosis 5
def: "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5]
subset: gard_rare {source="GARD:1223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228360"}
subset: ordo_etiological_subtype {source="Orphanet:228360"}
subset: orphanet_rare {source="Orphanet:228360"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 5" RELATED [MONDO:Lexical, OMIM:256731]
synonym: "ceroid lipofuscinosis, neuronal, 5, variable Age at onset" RELATED [OMIM:256731]
synonym: "ceroid lipofuscinosis, neuronal, type 5" EXACT [MONDORULE:1, OMIM:256731]
synonym: "CLN5" EXACT ABBREVIATION [DOID:0110728, MONDO:Lexical, OMIM:256731]
synonym: "CLN5 disease" RELATED [Orphanet:228360]
synonym: "CLN5 disease, adult" RELATED [GARD:0001223]
synonym: "CLN5 disease, juvenile" RELATED [GARD:0001223]
synonym: "CLN5 disease, late infantile (subtype)" RELATED [GARD:0001223]
synonym: "CLN5 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Finnish Vlincl" RELATED [OMIM:256731]
synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT [DOID:0110728]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN5" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis Finnish variant" RELATED [GARD:0001223]
synonym: "neuronal ceroid lipofuscinosis type 5" EXACT [DOID:0110728, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, late infantile, Finnish variant" RELATED [OMIM:256731]
xref: DOID:0110728 {source="MONDO:equivalentTo"}
xref: GARD:1223 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:228360", source="DOID:0110728", source="Orphanet:228360/attributed", source="Orphanet:228360/ntbt"}
xref: MEDGEN:376792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C575534 {source="MONDO:equivalentTo"}
xref: OMIM:256731 {source="MONDO:equivalentTo", source="Orphanet:228360", source="DOID:0110728", source="Orphanet:228360/e"}
xref: Orphanet:168491 {source="OMIM:256731"}
xref: Orphanet:228360 {source="MONDO:equivalentTo", source="OMIM:256731", source="DOID:0110728"}
xref: UMLS:C1850442 {source="MEDGEN:376792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015674 {source="Orphanet:228360"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0016295 {source="DOID:0110728", source="MONDO:Redundant", source="OMIM:256731", source="Orphanet:228360/inferred"} ! neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2076 ! CLN5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2076 {source="MONDO:mim2gene_medgen"} ! CLN5
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5" xsd:anyURI {source="GARD:0001223"}

[Term]
id: MONDO:0009746
name: hereditary sensory and autonomic neuropathy type 4
def: "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." [Orphanet:642]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3006", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1236"}
subset: ordo_disorder {source="Orphanet:642"}
subset: orphanet_rare {source="Orphanet:642"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CIP-anhidrosis syndrome" EXACT [Orphanet:642]
synonym: "CIPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256800]
synonym: "congenital insensitivity to pain with anhidrosis" EXACT [NCIT:C118633]
synonym: "congenital insensitivity to pain-anhidrosis syndrome" EXACT [Orphanet:642]
synonym: "familial dysautonomia, type 2" RELATED [OMIM:256800]
synonym: "hereditary sensory and autonomic neuropathy 4" RELATED [OMIM:256800]
synonym: "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1" EXACT [MONDO:design_pattern]
synonym: "Hereditary Sensory and Autonomic Neuropathy Type IV" EXACT [NORD:1236]
synonym: "hereditary sensory and autonomic neuropathy type IV" EXACT [Orphanet:642]
synonym: "hereditary sensory neuropathy type 4" RELATED [DOID:0070146]
synonym: "hereditary sensory neuropathy type IV" EXACT [DOID:0070146]
synonym: "HSAN 4" RELATED [OMIM:256800]
synonym: "HSAN IV" RELATED [GARD:0003006]
synonym: "HSAN4" EXACT ABBREVIATION [Orphanet:642]
synonym: "HSNAN4" RELATED ABBREVIATION [GARD:0003006]
synonym: "insensitivity to pain, congenital, with anhidrosis" EXACT [DOID:0070146, MONDO:Lexical, OMIM:256800]
synonym: "neuropathy, congenital sensory, with anhidrosis" RELATED [OMIM:256800]
synonym: "NTRK1 hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070146 {source="MONDO:equivalentTo"}
xref: GARD:3006 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:642", source="Orphanet:642/attributed", source="Orphanet:642/ntbt"}
xref: icd11.foundation:1831234152 {source="Orphanet:642", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:6915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200553 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200854 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118633 {source="DOID:0070146", source="MONDO:equivalentTo"}
xref: NORD:1236 {source="MONDO:NORD"}
xref: OMIM:256800 {source="Orphanet:642", source="DOID:0070146", source="MONDO:equivalentTo", source="Orphanet:642/e"}
xref: Orphanet:642 {source="DOID:0070146", source="MONDO:equivalentTo", source="OMIM:256800"}
xref: PMID:14272277 {source="DOID:0070146"}
xref: PMID:8696348 {source="DOID:0070146"}
xref: SCTID:62985007 {source="DOID:0070146", source="MONDO:equivalentTo"}
xref: UMLS:C0020074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6915"}
is_a: MONDO:0015364 {source="DOID:0070146", source="OMIM:256800", source="Orphanet:642/inferred"} ! hereditary sensory and autonomic neuropathy
intersection_of: MONDO:0015364 ! hereditary sensory and autonomic neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8031 ! NTRK1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8031 {source="MONDO:mim2gene_medgen"} ! NTRK1

[Term]
id: MONDO:0009747
name: mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
subset: gard_rare {source="GARD:3972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:255229"}
subset: orphanet_rare {source="Orphanet:255229"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial DNA depletion syndrome 6" RELATED [DOID:0080125, GARD:0003972]
synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:256810]
synonym: "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" RELATED [GARD:0003972]
synonym: "MTDPS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256810]
synonym: "Navajo familial neurogenic arthropathy" RELATED [OMIM:256810]
synonym: "Navajo neurohepatopathy" EXACT [OMIM:256810]
synonym: "Navajo neuropathy" EXACT [OMIM:256810, Orphanet:255229]
synonym: "NN" RELATED ABBREVIATION [GARD:0003972]
xref: DOID:0080125 {source="MONDO:equivalentTo"}
xref: GARD:3972 {source="MONDO:GARD"}
xref: MEDGEN:338045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538344 {source="MONDO:equivalentTo"}
xref: OMIM:256810 {source="DOID:0080125", source="MONDO:equivalentTo", source="Orphanet:255229", source="Orphanet:255229/e"}
xref: Orphanet:255229 {source="MONDO:equivalentTo", source="OMIM:256810"}
xref: UMLS:C1850406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338045"}
is_a: MONDO:0004069 {source="DOID:0080125", source="MESH:C538344", source="OMIM:256810", source="OMIM:256810/inferred", source="Orphanet:255229/inferred"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:256810", source="Orphanet:255229/inferred"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0100512 {source="Orphanet:255229", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7224 {source="MONDO:mim2gene_medgen"} ! MPV17

[Term]
id: MONDO:0009748
name: hereditary sensory and autonomic neuropathy with spastic paraplegia
def: "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." [Orphanet:139578]
subset: gard_rare {source="GARD:16959", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139578"}
subset: orphanet_rare {source="Orphanet:139578"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary sensory and autonomic neuropathy with spastic paraplegia" EXACT CLINGEN_LABEL []
synonym: "HSAN with spastic paraplegia" EXACT [Orphanet:139578]
synonym: "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" RELATED [OMIM:256840]
xref: GARD:16959 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:139578", source="Orphanet:139578/attributed", source="Orphanet:139578/ntbt"}
xref: MEDGEN:342492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564948 {source="MONDO:equivalentTo"}
xref: OMIM:256840 {source="Orphanet:139578", source="MONDO:equivalentTo", source="Orphanet:139578/e"}
xref: Orphanet:139578 {source="MONDO:equivalentTo", source="OMIM:256840"}
xref: SCTID:717827000 {source="MONDO:equivalentTo"}
xref: UMLS:C1850395 {source="MEDGEN:342492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0005244 {source="https://orcid.org/0000-0002-4142-7153"} ! peripheral neuropathy
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1618 {source="MONDO:mim2gene_medgen"} ! CCT5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009749
name: giant axonal neuropathy 1
def: "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy." [Orphanet:643]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:643"}
subset: orphanet_rare {source="Orphanet:643"}
subset: rare
synonym: "gan" EXACT [OMIM:256850, Orphanet:643]
synonym: "GAN giant axonal neuropathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "gan giant axonal neuropathy" EXACT [MONDO:design_pattern]
synonym: "GAN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256850]
synonym: "giant axonal neuropathy 1" EXACT CLINGEN_LABEL []
synonym: "giant axonal neuropathy 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:256850]
synonym: "giant axonal neuropathy caused by mutation in GAN" EXACT []
synonym: "giant axonal neuropathy caused by mutation in gan" EXACT [MONDO:design_pattern]
synonym: "giant axonal neuropathy type 1" EXACT [DOID:0090068, MONDORULE:1]
synonym: "giant axonal neuropathy-1" EXACT [OMIM:256850, OMIM:genemap2]
synonym: "neuropathy, giant axonal" RELATED [GARD:0006500]
xref: DOID:0090068 {source="MONDO:equivalentTo"}
xref: GARD:6500 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:643", source="Orphanet:643/attributed", source="Orphanet:643/ntbt"}
xref: MEDGEN:376775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056768 {source="Orphanet:643", source="Orphanet:643/e"}
xref: OMIM:256850 {source="Orphanet:643", source="MONDO:equivalentTo", source="Orphanet:643/e", source="DOID:0090068"}
xref: Orphanet:643 {source="MONDO:equivalentTo", source="OMIM:256850", source="DOID:0090068"}
xref: UMLS:C1850386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376775"}
is_a: MONDO:0000128 {source="DC-OMIM:256850", source="MONDO:Redundant", source="OMIM:256850"} ! giant axonal neuropathy
is_a: MONDO:0020127 {source="Orphanet:643"} ! hereditary peripheral neuropathy
intersection_of: MONDO:0000128 ! giant axonal neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4137 ! GAN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4137 {source="MONDO:mim2gene_medgen"} ! GAN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2532" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009750
name: neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive
synonym: "Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive" RELATED [OMIM:256855]
synonym: "HMSN with excessive myelin Outfolding, autosomal recessive" RELATED [OMIM:256855]
synonym: "neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive" EXACT [OMIM:256855]
xref: MEDGEN:342491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564947 {source="MONDO:equivalentTo"}
xref: OMIM:256855 {source="MONDO:equivalentTo"}
xref: UMLS:C1850385 {source="MEDGEN:342491", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564947/inferred"} ! hereditary disease

[Term]
id: MONDO:0009751
name: neuropathy, hereditary sensory, atypical
def: "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities." [DOID:0070160]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "atypical hereditary sensory neuropathy" RELATED [DOID:0070160]
synonym: "neuropathy, hereditary sensory, atypical" EXACT [OMIM:256860]
xref: DOID:0070160 {source="MONDO:equivalentTo"}
xref: MEDGEN:376774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564946 {source="MONDO:equivalentTo"}
xref: OMIM:256860 {source="MONDO:equivalentTo", source="DOID:0070160"}
xref: UMLS:C1850384 {source="MEDGEN:376774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="DC-OMIM:256860", source="DOID:0070160"} ! hereditary sensory and autonomic neuropathy

[Term]
id: MONDO:0009752
name: neuropathy, painful
synonym: "neuropathy, painful" EXACT [OMIM:256870]
xref: MEDGEN:342490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564945 {source="MONDO:equivalentTo"}
xref: OMIM:256870 {source="MONDO:equivalentTo"}
xref: UMLS:C1850383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342490"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009753
name: obsolete neurovisceral storage disease with Curvilinear bodies
synonym: "neurovisceral storage disease with Curvilinear bodies" EXACT [OMIM:257000]
xref: MESH:C564944 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:257000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/hpo-annotation-data/issues/260" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0009754
name: neutropenia, lethal congenital, with eosinophilia
subset: gard_rare {source="GARD:6107", source="MONDO:GARD"}
subset: rare
synonym: "lethal congenital neutropenia with eosinophilia" RELATED [GARD:0006107]
synonym: "neutropenia lethal congenital with eosinophilia" RELATED [GARD:0006107]
synonym: "neutropenia, lethal congenital, with eosinophilia" EXACT [OMIM:257100]
xref: GARD:6107 {source="MONDO:GARD"}
xref: MEDGEN:338037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564943 {source="MONDO:equivalentTo"}
xref: OMIM:257100 {source="MONDO:equivalentTo"}
xref: Orphanet:486 {source="OMIM:257100"}
xref: UMLS:C1850381 {source="MEDGEN:338037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008742 {source="Orphanet:486/btnt"} ! autosomal dominant severe congenital neutropenia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia" xsd:anyURI {source="GARD:0006107"}

[Term]
id: MONDO:0009755
name: neutrophil actin dysfunction
def: "Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma." [NCIT:C3694]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Atypical Nevus" EXACT [NCIT:C3694]
synonym: "Clark Nevus" EXACT [NCIT:C3694, Orphanet:625]
synonym: "Clark's Nevus" EXACT [NCIT:C3694]
synonym: "dysplastic nevi" EXACT [NCIT:C3694]
synonym: "dysplastic Nevus" EXACT [NCIT:C3694, Orphanet:625]
synonym: "dysplastic nevus" EXACT [NCIT:C3694]
synonym: "lentiginous Nevus" EXACT [NCIT:C3694]
synonym: "NAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257150]
synonym: "neutrophil actin dysfunction" EXACT [MONDO:Lexical, OMIM:257150]
synonym: "Nevus with architectural disorder" EXACT [NCIT:C3694]
synonym: "Nevus with architectural disorder and cytologic atypia of melanocytes" EXACT [NCIT:C3694]
xref: MEDGEN:338036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564942 {source="MONDO:equivalentTo"}
xref: NCIT:C3694 {source="MONDO:equivalentTo"}
xref: OMIM:257150 {source="MONDO:equivalentTo"}
xref: Orphanet:625 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1850380 {source="MEDGEN:338036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005073 {source="NCIT:C3694"} ! melanocytic nevus
is_a: MONDO:0021583 {source="NCIT:C3694"} ! melanocytic skin neoplasm

[Term]
id: MONDO:0009756
name: Niemann-Pick disease type A
def: "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." [Orphanet:77292]
subset: gard_rare {source="GARD:7206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:77292"}
subset: orphanet_rare {source="Orphanet:77292"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Niemann-Pick disease, Intermediate, protracted neurovisceral" RELATED [OMIM:257200]
synonym: "Niemann-PICK disease, type A" RELATED [OMIM:257200]
synonym: "sphingomyelin lipidosis" RELATED [OMIM:257200]
synonym: "sphingomyelinase deficiency" RELATED [OMIM:257200]
xref: DOID:0070111 {source="MONDO:equivalentTo"}
xref: GARD:7206 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="DOID:0070111", source="Orphanet:77292/inclusion", source="Orphanet:77292", source="Orphanet:77292/ntbt"}
xref: MEDGEN:78650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052536 {source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"}
xref: NANDO:1200061 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201206 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126561 {source="MONDO:equivalentTo"}
xref: OMIM:257200 {source="DOID:0070111", source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"}
xref: Orphanet:77292 {source="OMIM:257200", source="MONDO:equivalentTo"}
xref: SCTID:52165006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78650"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! sphingolipidosis
is_a: MONDO:0100464 {source="https://clinicalgenome.org/affiliation/40110/"} ! acid sphingomyelinase deficiency
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:257200", source="Orphanet:77292"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11120 {source="MONDO:mim2gene_medgen"} ! SMPD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4984" xsd:anyURI

[Term]
id: MONDO:0009757
name: Niemann-Pick disease, type C1
def: "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." [NCIT:C126864]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neurovisceral storage disease with vertical supranuclear ophthalmoplegia" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease type C1" RELATED [DOID:0070113, GARD:0007207]
synonym: "Niemann-Pick disease with cholesterol esterification block" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease without sphingomyelinase deficiency" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, chronic neuronopathic form" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, nova Scotian type" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, subacute juvenile form" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, type C" RELATED [OMIM:257220]
synonym: "Niemann-PICK disease, type C1" RELATED [OMIM:257220]
synonym: "Niemann-Pick disease, type C1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:257220]
synonym: "Niemann-Pick disease, type D" RELATED [OMIM:257220]
synonym: "NPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257220]
synonym: "type C1 Niemann-Pick disease" EXACT [NCIT:C126864]
xref: DOID:0070113 {source="MONDO:equivalentTo"}
xref: ICD10CM:E75.2 {source="DOID:0070113"}
xref: MEDGEN:465922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126864 {source="MONDO:equivalentTo"}
xref: OMIM:257220 {source="DOID:0070113", source="MONDO:equivalentTo"}
xref: Orphanet:646 {source="OMIM:257220"}
xref: SCTID:18927009 {source="MONDO:equivalentTo"}
xref: UMLS:C3179455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:465922"}
is_a: MONDO:0001982 {source="DOID:0070113", source="NCIT:C126864/inferred"} ! Niemann-Pick disease
is_a: MONDO:0018982 ! Niemann-Pick disease type C
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:257220"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7897 {source="MONDO:mim2gene_medgen"} ! NPC1

[Term]
id: MONDO:0009758
name: congenital stationary night blindness 1B
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15212", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive complete congenital stationary night blindness" EXACT [DOID:0110865]
synonym: "congenital stationary night blindness 1B" EXACT CLINGEN_LABEL []
synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT [DOID:0110865]
synonym: "congenital stationary night blindness caused by mutation in GRM6" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1B" EXACT [DOID:0110865, MONDORULE:4]
synonym: "CSNB, complete, autosomal recessive" RELATED [OMIM:257270]
synonym: "CSNB1B" EXACT ABBREVIATION [DOID:0110865, MONDO:Lexical, OMIM:257270]
synonym: "GRM6 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary (complete), 1B, autosomal recessive" EXACT [OMIM:257270, OMIM:genemap2]
synonym: "night blindness, congenital stationary, complete, autosomal recessive" RELATED [OMIM:257270]
synonym: "night blindness, congenital stationary, type 1B" RELATED [MONDO:Lexical, OMIM:257270]
xref: DOID:0110865 {source="MONDO:equivalentTo"}
xref: GARD:15212 {source="MONDO:GARD"}
xref: MEDGEN:342484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:257270 {source="DOID:0110865", source="MONDO:equivalentTo"}
xref: UMLS:C1850362 {source="MEDGEN:342484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:257270", source="DOID:0110865", source="MONDO:Redundant", source="OMIM:257270"} ! congenital stationary night blindness
is_a: MONDO:0800397 {source="https://clinicalgenome.org/affiliation/40072/"} ! GRM6-related retinopathy
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4598 ! GRM6
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4598 {source="MONDO:mim2gene_medgen"} ! GRM6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0009759
name: mosaic variegated aneuploidy syndrome 1
def: "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BUB1B mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MOSAIC variegated aneuploidy syndrome 1" RELATED [OMIM:257300]
synonym: "mosaic variegated aneuploidy syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:257300]
synonym: "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B" EXACT [MONDO:design_pattern]
synonym: "Mosaic variegated aneuploidy syndrome type 1" EXACT [MONDORULE:1, OMIM:257300]
synonym: "mosaic variegated aneuploidy syndrome type 1" EXACT [DOID:0080141, MONDORULE:1]
synonym: "MVA syndrome" RELATED [OMIM:257300]
synonym: "MVA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257300]
xref: DOID:0080141 {source="MONDO:equivalentTo"}
xref: MEDGEN:338026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:257300 {source="DOID:0080141", source="MONDO:equivalentTo", source="Orphanet:1052"}
xref: UMLS:C1850343 {source="MEDGEN:338026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000141 {source="DC-OMIM:257300", source="MONDO:Redundant", source="OMIM:257300"} ! mosaic variegated aneuploidy syndrome
intersection_of: MONDO:0000141 ! mosaic variegated aneuploidy syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1149 ! BUB1B
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1149 {source="MONDO:mim2gene_medgen"} ! BUB1B

[Term]
id: MONDO:0009760
name: Norman-Roberts syndrome
def: "Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." [Orphanet:89844]
subset: gard_rare {source="GARD:16780", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:89844"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LIS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257320]
synonym: "lissencephaly 2" EXACT [DOID:0060902, MONDO:Lexical, OMIM:257320]
synonym: "lissencephaly 2 (Norman-Roberts type)" EXACT [OMIM:257320, OMIM:genemap2]
synonym: "lissencephaly syndrome Norman-Roberts type" RELATED [GARD:0003277]
synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT [DOID:0060902, OMIM:257320]
synonym: "lissencephaly type 2" RELATED EXCLUDE [MONDORULE:1, OMIM:257320]
synonym: "Microlissencephaly type A" EXACT [Orphanet:89844]
synonym: "Norman Roberts lissencephaly syndrome" RELATED [GARD:0003277]
synonym: "Norman-Roberts syndrome" EXACT CLINGEN_LABEL [OMIM:257320]
xref: DOID:0060902 {source="MONDO:equivalentTo"}
xref: GARD:16780 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:89844", source="Orphanet:89844/attributed", source="Orphanet:89844/ntbt", source="DOID:0060902"}
xref: MEDGEN:163213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537848 {source="Orphanet:89844", source="Orphanet:89844/e", source="DOID:0060902"}
xref: OMIM:257320 {source="Orphanet:89844", source="MONDO:equivalentTo", source="Orphanet:89844/e", source="DOID:0060902"}
xref: Orphanet:89844 {source="OMIM:257320", source="MONDO:equivalentTo", source="DOID:0060902"}
xref: SCTID:717977003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163213"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015204 {source="Orphanet:89844"} ! microlissencephaly
is_a: MONDO:0018838 {source="DOID:0060902", source="MONDO:Redundant", source="OMIM:257320", source="Orphanet:89844/inferred"} ! lissencephaly spectrum disorders
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9957 {source="MONDO:mim2gene_medgen"} ! RELN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009761
name: cystic hygroma
def: "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels." [NCIT:C3724]
subset: gard_rare {source="GARD:6234", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cystic hygroma" EXACT [DOID:3081, NCIT:C3724]
synonym: "cystic hygroma, fetal" RELATED [OMIM:257350]
synonym: "cystic hygroma, foetal" RELATED OMO:0003005 []
synonym: "cystic lymphangioma" EXACT [GARD:0006234, NCIT:C3724]
synonym: "hygroma" EXACT [NCIT:C3724]
synonym: "macrocystic lymphatic malformation" RELATED [GARD:0006234]
synonym: "nuchal bleb, familial" RELATED [OMIM:257350]
xref: DOID:3081 {source="MONDO:equivalentTo", source="EFO:1000888"}
xref: EFO:1000888 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6234 {source="MONDO:GARD"}
xref: ICD10CM:D18.1 {source="Orphanet:79486/ntbt", source="Orphanet:79486"}
xref: ICDO:9173/0 {source="NCIT:C3724"}
xref: MedDRA:10058949 {source="EFO:1000888"}
xref: MEDGEN:60195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018191 {source="MONDO:equivalentTo", source="DOID:3081", source="EFO:1000888"}
xref: NCIT:C3724 {source="MONDO:equivalentTo", source="DOID:3081"}
xref: OMIM:257350 {source="Orphanet:79486/e", source="MONDO:equivalentTo", source="Orphanet:79486", source="GARD:0006234"}
xref: Orphanet:137923 {source="OMIM:257350"}
xref: Orphanet:79486 {source="OMIM:257350", source="MONDO:equivalentObsolete"}
xref: SCTID:399882002 {source="MONDO:equivalentTo", source="DOID:3081"}
xref: SCTID:40225001 {source="DOID:3081", source="EFO:1000888"}
xref: SCTID:423984004 {source="DOID:3081"}
xref: UMLS:C0206620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60195"}
is_a: MONDO:0002013 {source="NCIT:C3724"} ! lymphangioma

[Term]
id: MONDO:0009762
name: nystagmus, congenital, autosomal recessive
synonym: "Nystagmus, congenital motor, autosomal recessive" RELATED [GARD:0009609]
synonym: "nystagmus, congenital, autosomal recessive" EXACT [OMIM:257400]
xref: DOID:0111797 {source="MONDO:equivalentTo"}
xref: MEDGEN:462921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564938 {source="MONDO:equivalentTo"}
xref: OMIM:257400 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:257400"}
xref: UMLS:C3151571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462921"}
is_a: MONDO:0005712 {source="DC-OMIM:257400", source="OMIM:257400"} ! congenital nystagmus
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009763
name: obesity-hypoventilation syndrome
def: "Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately." [MESH:D010845]
subset: otar {source="MONDO:OTAR"}
synonym: "obesity-hypoventilation syndrome" EXACT [OMIM:257500]
synonym: "Pickwickian syndrome" RELATED [OMIM:257500]
xref: EFO:1001382 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:786.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010845 {source="MONDO:equivalentTo"}
xref: NANDO:1200752 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:257500 {source="MONDO:equivalentTo"}
xref: SCTID:190966007 {source="MONDO:equivalentTo"}
xref: UMLS:C0031880 {source="MEDGEN:18472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009764
name: ocular motor apraxia, Cogan type
def: "Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." [Orphanet:1125]
subset: gard_rare {source="GARD:16", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1517", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1125"}
subset: orphanet_rare {source="Orphanet:1125"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cogan syndrome type 2" RELATED []
synonym: "Cogan's syndrome type 2" RELATED [GARD:0000016]
synonym: "COMA" RELATED ABBREVIATION [GARD:0000016]
synonym: "congenital oculomotor apraxia" RELATED [GARD:0000016]
synonym: "ocular motor apraxia" RELATED [OMIM:257550]
synonym: "oculomotor apraxia Cogan type" RELATED [GARD:0000016]
synonym: "oculomotor apraxia, Cogan type" EXACT [OMIM:257550, Orphanet:1125]
synonym: "oculomotor apraxia, congenital, Cogan-type" EXACT [OMIM:257550, OMIM:genemap2]
synonym: "saccade initiation failure congenital" RELATED [GARD:0000016]
synonym: "saccade initiation failure, congenital" RELATED [OMIM:257550]
xref: DOID:0080849 {source="MONDO:equivalentTo"}
xref: GARD:16 {source="MONDO:GARD"}
xref: ICD10CM:H51.8 {source="Orphanet:1125/ntbt", source="Orphanet:1125", source="Orphanet:1125/index"}
xref: MEDGEN:154254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537423 {source="Orphanet:1125", source="MONDO:equivalentTo", source="Orphanet:1125/e"}
xref: NORD:1517 {source="MONDO:NORD"}
xref: OMIM:257550 {source="Orphanet:1125", source="MONDO:equivalentTo", source="GARD:0000016", source="Orphanet:1125/e"}
xref: Orphanet:1125 {source="OMIM:257550", source="MONDO:equivalentTo", source="GARD:0000016"}
xref: SCTID:405809000 {source="MONDO:equivalentTo"}
xref: UMLS:C0543874 {source="MONDO:equivalentTo", source="MEDGEN:154254", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0009765
name: ocular myopathy with curare sensitivity
synonym: "ocular myopathy with curare sensitivity" EXACT [OMIM:257600]
xref: MEDGEN:376764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564937 {source="MONDO:equivalentTo"}
xref: OMIM:257600 {source="MONDO:equivalentTo"}
xref: UMLS:C1850341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376764"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009766
name: oculocerebral hypopigmentation syndrome of Preus
subset: gard_rare {source="GARD:4034", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2720"}
subset: orphanet_rare {source="Orphanet:2720"}
subset: rare
synonym: "oculocerebral hypopigmentation syndrome of Preus" EXACT [OMIM:257790]
synonym: "oculocerebral hypopigmentation syndrome type Preus" RELATED [GARD:0004034]
xref: GARD:4034 {source="MONDO:GARD"}
xref: MEDGEN:419131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537866 {source="MONDO:equivalentTo"}
xref: OMIM:257790 {source="MONDO:equivalentTo"}
xref: Orphanet:2720 {source="OMIM:257790", source="MONDO:equivalentTo"}
xref: SCTID:716174001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419131"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009767
name: oculocerebral hypopigmentation syndrome, Cross type
def: "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." [Orphanet:2719]
subset: gard_rare {source="GARD:105", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1520"}
subset: ordo_disorder {source="Orphanet:2719"}
subset: ordo_malformation_syndrome {source="Orphanet:2719"}
subset: orphanet_rare {source="Orphanet:2719"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cross syndrome" EXACT [GARD:0000105, OMIM:257800, Orphanet:2719]
synonym: "hypopigmentation oculocerebral syndrome Cross type" RELATED [GARD:0000105]
synonym: "Kramer syndrome" RELATED [GARD:0000105, OMIM:257800]
synonym: "oculocerebral hypopigmentation syndrome" RELATED [GARD:0000105]
synonym: "Oculocerebral Syndrome with Hypopigmentation" EXACT [NORD:1520]
synonym: "oculocerebral syndrome with hypopigmentation" RELATED [OMIM:257800]
xref: GARD:105 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:2719/ntbt", source="Orphanet:2719/inclusion", source="Orphanet:2719"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:423639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1520 {source="MONDO:NORD"}
xref: OMIM:257800 {source="Orphanet:2719/e", source="GARD:0000105", source="MONDO:equivalentTo", source="Orphanet:2719"}
xref: Orphanet:2719 {source="GARD:0000105", source="MONDO:equivalentTo", source="OMIM:257800"}
xref: SCTID:17827007 {source="MONDO:equivalentTo"}
xref: UMLS:C2936910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423639"}
is_a: MONDO:0017305 {source="Orphanet:2719"} ! syndromic oculocutaneous albinism
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2719", source="Orphanet:2719/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0009768
name: oculodentodigital dysplasia, autosomal recessive
def: "Autosomal recessive form of oculodentodigital dysplasia." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:15213", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive oculodentodigital dysplasia" EXACT [MONDO:design_pattern]
synonym: "oculodentodigital dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:257850]
synonym: "oculodentoosseous dysplasia recessive" RELATED [GARD:0004045]
synonym: "oculodentoosseous dysplasia, autosomal recessive" RELATED [OMIM:257850]
synonym: "ODDD, autosomal recessive" RELATED [OMIM:257850]
synonym: "ODOD recessive" RELATED [GARD:0004045]
synonym: "ODOD, autosomal recessive" RELATED [OMIM:257850]
xref: GARD:15213 {source="MONDO:GARD"}
xref: MEDGEN:412708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567605 {source="MONDO:equivalentTo"}
xref: OMIM:257850 {source="MONDO:equivalentTo"}
xref: Orphanet:2710 {source="OMIM:257850"}
xref: UMLS:C2749477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412708"}
is_a: MONDO:0008111 {source="MONDO:Redundant", source="Orphanet:2710/btnt"} ! oculodentodigital dysplasia
intersection_of: MONDO:0008111 ! oculodentodigital dysplasia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009769
name: oculo-palato-cerebral syndrome
def: "Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." [Orphanet:2714]
subset: gard_rare {source="GARD:16606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2714"}
subset: ordo_malformation_syndrome {source="Orphanet:2714"}
subset: orphanet_rare {source="Orphanet:2714"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "oculo-palato-cerebral dwarfism" EXACT [Orphanet:2714]
synonym: "oculopalatocerebral dwarfism" RELATED [OMIM:257910]
synonym: "oculopalatocerebral syndrome" RELATED [OMIM:257910]
synonym: "OPC dwarfism" RELATED [OMIM:257910]
xref: GARD:16606 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2714/attributed", source="Orphanet:2714/ntbt", source="Orphanet:2714"}
xref: MEDGEN:338025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564935 {source="MONDO:equivalentTo"}
xref: OMIM:257910 {source="Orphanet:2714/e", source="MONDO:equivalentTo", source="Orphanet:2714"}
xref: Orphanet:2714 {source="MONDO:equivalentTo", source="OMIM:257910"}
xref: SCTID:722055008 {source="MONDO:equivalentTo"}
xref: UMLS:C1850338 {source="MEDGEN:338025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2714"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2714", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009770
name: 3MC syndrome 1
def: "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3MC syndrome 1" EXACT [MONDO:Lexical, OMIM:257920]
synonym: "3MC syndrome caused by mutation in MASP1" EXACT [MONDO:design_pattern]
synonym: "3MC syndrome type 1" EXACT [DOID:0060575, MONDORULE:1]
synonym: "3Mc syndrome type 1" EXACT [MONDORULE:1, OMIM:257920]
synonym: "3MC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257920]
synonym: "craniosynostosis with 51D anomalies" RELATED [OMIM:257920]
synonym: "MASP1 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Michels syndrome" RELATED [OMIM:257920]
synonym: "Michels syndrome, formerly" RELATED [OMIM:257920]
synonym: "oculopalatoskeletal syndrome" RELATED [OMIM:257920]
xref: DOID:0060575 {source="MONDO:equivalentTo"}
xref: EFO:1001978 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4049 {source="MONDO:GARD"}
xref: MEDGEN:167100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:257920 {source="DOID:0060575", source="MONDO:equivalentTo"}
xref: Orphanet:2506 {source="MONDO:equivalentObsolete", source="OMIM:257920"}
xref: Orphanet:293843 {source="OMIM:257920"}
xref: UMLS:C0796059 {source="MEDGEN:167100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017398 {source="DC-OMIM:257920", source="DOID:0060575", source="EFO:1001978", source="MONDO:Redundant", source="OMIM:257920"} ! 3MC syndrome
intersection_of: MONDO:0017398 ! 3MC syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6901 ! MASP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6901 {source="MONDO:mim2gene_medgen"} ! MASP1

[Term]
id: MONDO:0009771
name: oculotrichodysplasia
def: "Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2718]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'nervous system disorder' (MONDO:0005071) ontology branch (https://orcid.org/0000-0001-9310-0163), and from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:16607", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2718"}
subset: ordo_malformation_syndrome {source="Orphanet:2718"}
subset: orphanet_rare {source="Orphanet:2718"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cecato de Lima-Pinheiro syndrome" EXACT [Orphanet:2718]
synonym: "oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960]
synonym: "OTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257960]
xref: GARD:16607 {source="MONDO:GARD"}
xref: MEDGEN:340517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564934 {source="MONDO:equivalentTo"}
xref: OMIM:257960 {source="Orphanet:2718/e", source="MONDO:equivalentTo", source="Orphanet:2718"}
xref: Orphanet:2718 {source="MONDO:equivalentTo", source="OMIM:257960"}
xref: SCTID:722062004 {source="MONDO:equivalentTo"}
xref: UMLS:C1850332 {source="MEDGEN:340517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:2718"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0009772
name: oculorenocerebellar syndrome
subset: gard_rare {source="GARD:4050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2715"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:2715"}
subset: rare
synonym: "absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy" RELATED [GARD:0004050]
synonym: "absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy" RELATED DEPRECATED [GARD:0004050]
synonym: "oculorenocerebellar syndrome" EXACT [OMIM:257970]
synonym: "ORC syndrome" RELATED [OMIM:257970]
xref: GARD:4050 {source="MONDO:GARD"}
xref: MEDGEN:340516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537739 {source="MONDO:equivalentTo"}
xref: OMIM:257970 {source="MONDO:equivalentTo", source="Orphanet:2715"}
xref: Orphanet:2715 {source="OMIM:257970", source="MONDO:equivalentTo"}
xref: UMLS:C1850331 {source="MEDGEN:340516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome" xsd:anyURI {source="GARD:0004050"}

[Term]
id: MONDO:0009773
name: odonto-onycho-dermal dysplasia
def: "A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." [Orphanet:2721]
subset: gard_rare {source="GARD:4054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2721"}
subset: orphanet_rare {source="Orphanet:2721"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia" BROAD [OMIM:257980]
synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical, OMIM:257980]
synonym: "OODD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:257980, Orphanet:2721]
xref: GARD:4054 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:2721", source="Orphanet:2721/attributed", source="Orphanet:2721/ntbt"}
xref: MEDGEN:208666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537742 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"}
xref: OMIM:257980 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"}
xref: Orphanet:2721 {source="OMIM:257980", source="MONDO:equivalentTo"}
xref: SCTID:403762003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796093 {source="MEDGEN:208666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="MESH:C537742", source="Orphanet:2721"} ! ectodermal dysplasia syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:257980", source="Orphanet:2721"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 {source="MONDO:mim2gene_medgen"} ! WNT10A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3293" xsd:anyURI

[Term]
id: MONDO:0009774
name: cloacal exstrophy
def: "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." [Orphanet:93929]
subset: gard_rare {source="GARD:4080", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93929"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cloacal exstrophy" EXACT [MONDO:ambiguous]
synonym: "cloacal exstrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cloacal exstrophy sequence" RELATED [GARD:0004080]
synonym: "OEIS complex" RELATED [OMIM:258040, Orphanet:93929]
synonym: "OEIS syndrome" RELATED [NCIT:C99142]
synonym: "omphalocele - cloacal exstrophy - imperforate anus - spinal defect" RELATED [GARD:0004080]
synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects" RELATED [GARD:0004080]
synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex" RELATED [GARD:0004080]
synonym: "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" EXACT [Orphanet:93929]
synonym: "omphalocele-exstrophy-imperforate anus-spinal defects" RELATED [OMIM:258040]
xref: DOID:0080175 {source="MONDO:equivalentTo"}
xref: GARD:4080 {source="MONDO:GARD"}
xref: HP:0010475 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q64.1 {source="Orphanet:93929/attributed", source="Orphanet:93929/ntbt", source="Orphanet:93929"}
xref: icd11.foundation:2004612103 {source="Orphanet:93929", source="MONDO:equivalentTo"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10067424 {source="Orphanet:93929", source="Orphanet:93929/e"}
xref: MEDGEN:83377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537748 {source="MONDO:equivalentTo"}
xref: NANDO:1200909 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200910 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200950 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200951 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99142
xref: Orphanet:322 {source="OMIM:258040"}
xref: Orphanet:93929 {source="MONDO:equivalentTo", source="OMIM:258040"}
xref: SCTID:20815007 {source="MONDO:equivalentTo"}
xref: UMLS:C0345217 {source="MEDGEN:83377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0017919 {source="DOID:0080175", source="Orphanet:93929"} ! exstrophy-epispadias complex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3650" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000589 "cloacal exstrophy (disease)" xsd:string

[Term]
id: MONDO:0009775
name: Oguchi disease-1
def: "Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital stationary night blindness Oguchi type 1" EXACT [DOID:0110712]
synonym: "CSNBO1" EXACT ABBREVIATION [DOID:0110712]
synonym: "night blindness, congenital stationary, Oguchi type 1" RELATED [OMIM:258100]
synonym: "Oguchi disease 1" RELATED [OMIM:258100]
synonym: "Oguchi disease caused by mutation in SAG" EXACT [MONDO:design_pattern]
synonym: "Oguchi disease type 1" EXACT [MONDORULE:1, OMIM:258100]
synonym: "SAG Oguchi disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110712 {source="MONDO:equivalentTo"}
xref: MEDGEN:1645330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:258100 {source="DOID:0110712", source="MONDO:equivalentTo"}
xref: Orphanet:75382 {source="OMIM:258100"}
xref: UMLS:C4551824 {source="MEDGEN:1645330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:258100", source="OMIM:258100"} ! congenital stationary night blindness
intersection_of: MONDO:0019152 ! Oguchi disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 ! SAG
relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110712", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary night blindness
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 {source="MONDO:mim2gene_medgen"} ! SAG

[Term]
id: MONDO:0009776
name: spermatogenic failure 1
subset: gard_rare {source="GARD:15214", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Oligochiasmatic infertility" RELATED [OMIM:258150]
synonym: "Oligosynaptic infertility" RELATED [OMIM:258150]
synonym: "spermatogenic failure 1" EXACT [MONDO:Lexical, OMIM:258150]
synonym: "SPGF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258150]
xref: DOID:0070188 {source="MONDO:equivalentTo"}
xref: GARD:15214 {source="MONDO:GARD"}
xref: MEDGEN:140793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562902 {source="MONDO:equivalentTo"}
xref: OMIM:258150 {source="MONDO:equivalentTo"}
xref: Orphanet:217034 {source="MONDO:relatedTo", source="OMIM:258150"}
xref: SCTID:236803007 {source="MONDO:equivalentTo"}
xref: UMLS:C0403810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140793"}
is_a: MONDO:0004983 {source="DC-OMIM:258150", source="OMIM:258150"} ! spermatogenic failure

[Term]
id: MONDO:0009777
name: Oliver syndrome
def: "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." [Orphanet:2920]
subset: gard_rare {source="GARD:4069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2920"}
subset: ordo_malformation_syndrome {source="Orphanet:2920"}
subset: orphanet_rare {source="Orphanet:2920"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Oliver syndrome" EXACT [OMIM:258200]
synonym: "postaxial polydactyly and intellectual disability" RELATED [OMIM:258200]
synonym: "postaxial polydactyly and mental retardation" RELATED DEPRECATED [OMIM:258200]
synonym: "postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:2920]
xref: GARD:4069 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2920", source="Orphanet:2920/attributed", source="Orphanet:2920/ntbt"}
xref: MEDGEN:342472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564931 {source="MONDO:equivalentTo"}
xref: OMIM:258200 {source="MONDO:equivalentTo", source="Orphanet:2920", source="Orphanet:2920/e"}
xref: Orphanet:2920 {source="OMIM:258200", source="MONDO:equivalentTo"}
xref: SCTID:721017000 {source="MONDO:equivalentTo"}
xref: UMLS:C1850320 {source="MEDGEN:342472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2920"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2920", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome" xsd:anyURI {source="GARD:0004069"}

[Term]
id: MONDO:0009778
name: olivopontocerebellar atrophy II, autosomal recessive
synonym: "olivopontocerebellar atrophy II, autosomal recessive" EXACT [OMIM:258300]
synonym: "OPCA II, Fickler-Winkler type" RELATED [OMIM:258300]
xref: MEDGEN:376758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564930 {source="MONDO:equivalentTo"}
xref: OMIM:258300 {source="MONDO:equivalentTo"}
xref: UMLS:C1850319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376758"}
is_a: MONDO:0003847 {source="MESH:C564930/inferred"} ! hereditary disease

[Term]
id: MONDO:0009779
name: autosomal recessive omodysplasia
def: "Autosomal recessive form of omodysplasia." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:4076", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive omodysplasia" EXACT CLINGEN_LABEL []
synonym: "micromelic dysplasia congenita with dislocation of radius" RELATED [GARD:0004076]
synonym: "micromelic dysplasia, congenital, with dislocation of radius" RELATED [OMIM:258315]
synonym: "micromelic dysplasia-dislocation of radius syndrome" EXACT [Orphanet:93329]
synonym: "OMOD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258315]
synonym: "omodysplasia 1" RELATED [MONDO:Lexical, OMIM:258315]
synonym: "omodysplasia autosomal recessive" RELATED [GARD:0004076]
synonym: "omodysplasia generalised form" RELATED OMO:0003005 []
synonym: "omodysplasia generalized form" RELATED [GARD:0004076]
synonym: "omodysplasia type 1" EXACT [MONDORULE:1, OMIM:258315]
synonym: "omodysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:258315]
synonym: "omodysplasia, generalised form" RELATED OMO:0003005 []
synonym: "omodysplasia, generalized form" RELATED [OMIM:258315]
xref: DOID:0080844 {source="MONDO:equivalentTo"}
xref: GARD:4076 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:93329/attributed", source="Orphanet:93329/ntbt", source="Orphanet:93329"}
xref: MEDGEN:340513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:258315 {source="Orphanet:93329/e", source="MONDO:equivalentTo", source="Orphanet:93329"}
xref: Orphanet:2733 {source="OMIM:258315"}
xref: Orphanet:93329 {source="MONDO:equivalentTo", source="OMIM:258315"}
xref: SCTID:725166005 {source="MONDO:equivalentTo"}
xref: UMLS:C1850318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340513"}
is_a: MONDO:0017136 {source="DC-OMIM:258315", source="MONDO:Redundant", source="Orphanet:93329"} ! omodysplasia
intersection_of: MONDO:0017136 ! omodysplasia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4454 {source="MONDO:mim2gene_medgen"} ! GPC6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009780
name: lethal omphalocele-cleft palate syndrome
def: "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." [Orphanet:2736]
subset: gard_rare {source="GARD:4079", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2736"}
subset: ordo_malformation_syndrome {source="Orphanet:2736"}
subset: orphanet_rare {source="Orphanet:2736"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate-omphalocele syndrome, lethal" RELATED [OMIM:258320]
synonym: "Czeizel syndrome" EXACT [Orphanet:2736]
synonym: "omphalocele cleft palate syndrome lethal" RELATED [GARD:0004079]
synonym: "omphalocele-cleft palate syndrome, lethal" RELATED [OMIM:258320]
xref: GARD:4079 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2736/attributed", source="Orphanet:2736/ntbt", source="Orphanet:2736"}
xref: MEDGEN:376757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537747 {source="Orphanet:2736/e", source="MONDO:equivalentTo", source="Orphanet:2736"}
xref: OMIM:258320 {source="Orphanet:2736/e", source="MONDO:equivalentTo", source="Orphanet:2736"}
xref: Orphanet:2736 {source="OMIM:258320", source="MONDO:equivalentTo"}
xref: SCTID:719408007 {source="MONDO:equivalentTo"}
xref: UMLS:C1850317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376757"}
is_a: MONDO:0015159 {source="Orphanet:2736"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2736", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal" xsd:anyURI {source="GARD:0004079"}

[Term]
id: MONDO:0009781
name: Onychotrichodysplasia and neutropenia
subset: gard_rare {source="GARD:10161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "onycho-tricho-dysplasia-neutropenia syndrome" EXACT [Orphanet:2739]
synonym: "Onychotrichodysplasia and neutropenia" EXACT [OMIM:258360]
xref: GARD:10161 {source="MONDO:GARD"}
xref: MEDGEN:340512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537752 {source="MONDO:equivalentTo"}
xref: OMIM:258360 {source="MONDO:equivalentTo"}
xref: Orphanet:2739 {source="MONDO:equivalentObsolete", source="OMIM:258360"}
xref: UMLS:C1850316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340512"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia" xsd:anyURI {source="GARD:0010161"}

[Term]
id: MONDO:0009782
name: ophthalmoplegia totalis with ptosis and miosis
synonym: "ophthalmoplegia totalis with ptosis and miosis" EXACT [OMIM:258400]
xref: MEDGEN:342471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564927 {source="MONDO:equivalentTo"}
xref: OMIM:258400 {source="MONDO:equivalentTo"}
xref: UMLS:C1850314 {source="MEDGEN:342471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009783
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
def: "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15215", source="MONDO:GARD"}
subset: rare
synonym: "arPEO" RELATED [GARD:0001191]
synonym: "autosomal recessive progressive external ophthalmoplegia" RELATED [GARD:0001191]
synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern]
synonym: "cerebellar ataxia infantile with progressive external ophthalmoplegia" RELATED [GARD:0001191]
synonym: "PEOB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258450]
synonym: "POLG autosomal recessive progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive external ophthalmoplegia with cerebellar ataxia infantile" RELATED [GARD:0001191]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:258450]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:258450]
synonym: "progressive external ophthalmoplegia, autosomal recessive 1" RELATED [OMIM:258450]
xref: DOID:0111522 {source="MONDO:equivalentTo"}
xref: GARD:15215 {source="MONDO:GARD"}
xref: MEDGEN:897191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:258450 {source="MONDO:equivalentTo", source="GARD:0001191"}
xref: Orphanet:254886 {source="OMIM:258450", source="GARD:0001191"}
xref: UMLS:C4225153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897191"}
is_a: MONDO:0000090 {source="DC-OMIM:258450", source="OMIM:258450"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0016810 {source="MONDO:Redundant", source="Orphanet:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia
intersection_of: MONDO:0016810 ! autosomal recessive progressive external ophthalmoplegia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 ! POLG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1" xsd:anyURI {source="GARD:0001191"}

[Term]
id: MONDO:0009784
name: ophthalmoplegic neuromuscular disorder with abnormal mitochondria
synonym: "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" EXACT [OMIM:258470]
xref: MEDGEN:340508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564925 {source="MONDO:equivalentTo"}
xref: OMIM:258470 {source="MONDO:equivalentTo"}
xref: UMLS:C1850302 {source="MEDGEN:340508", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009785
name: opsismodysplasia
def: "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism." [Orphanet:2746]
subset: gard_rare {source="GARD:4098", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2746"}
subset: orphanet_rare {source="Orphanet:2746"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OPSISMODYSPLASIA" RELATED ABBREVIATION [OMIM:258480]
synonym: "opsismodysplasia" EXACT [MONDO:Lexical, OMIM:258480]
synonym: "OPSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258480]
xref: GARD:4098 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:2746", source="Orphanet:2746/attributed", source="Orphanet:2746/ntbt"}
xref: MEDGEN:140927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537122 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"}
xref: OMIM:258480 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"}
xref: Orphanet:2746 {source="MONDO:equivalentTo", source="OMIM:258480"}
xref: SCTID:254068007 {source="MONDO:equivalentTo"}
xref: UMLS:C0432219 {source="MONDO:equivalentTo", source="MEDGEN:140927", source="MONDO:MEDGEN"}
is_a: MONDO:0019694 {source="Orphanet:2746"} ! spondylodysplastic dysplasia
is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6080 {source="MONDO:mim2gene_medgen"} ! INPPL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia" xsd:anyURI {source="GARD:0004098"}

[Term]
id: MONDO:0009786
name: optic atrophy 6
subset: gard_rare {source="GARD:10200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OPA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258500]
synonym: "optic atrophy 6" EXACT [MONDO:Lexical, OMIM:258500]
synonym: "optic atrophy, congenital or early infantile, autosomal recessive" RELATED [OMIM:258500]
xref: DOID:0111435 {source="MONDO:equivalentTo"}
xref: GARD:10200 {source="MONDO:GARD"}
xref: MEDGEN:338012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537127 {source="MONDO:equivalentTo"}
xref: OMIM:258500 {source="MONDO:equivalentTo"}
xref: Orphanet:99012 {source="MONDO:equivalentObsolete", source="OMIM:258500"}
xref: UMLS:C1850281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338012"}
is_a: MONDO:0043878 {source="MESH:C537127/inferred", source="MONDO:Redundant", source="OMIM:258500"} ! hereditary optic atrophy

[Term]
id: MONDO:0009787
name: 3-methylglutaconic aciduria type 3
def: "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." [Orphanet:67047]
subset: gard_rare {source="GARD:5663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67047"}
subset: orphanet_rare {source="Orphanet:67047"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-alpha methylglutaconic aciduria type III" RELATED [GARD:0005663]
synonym: "3-methylglutaconic aciduria caused by mutation in OPA3" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type III" EXACT [DOID:0110004]
synonym: "3-methylglutaconic aciduria, type 3" RELATED [OMIM:258501]
synonym: "3-methylglutaconic aciduria, type III" RELATED [MONDO:Lexical, OMIM:258501]
synonym: "autosomal recessive optic atrophy plus syndrome" EXACT [DOID:0110004, Orphanet:67047]
synonym: "autosomal recessive optic atrophy type 3" EXACT [DOID:0110004, Orphanet:67047]
synonym: "Costeff optic atrophy syndrome" EXACT [DOID:0110004, Orphanet:67047]
synonym: "Costeff syndrome" EXACT [DOID:0110004, OMIM:258501, Orphanet:67047]
synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT [DOID:0110004, Orphanet:67047]
synonym: "Iraqi Jewish optic atrophy plus" RELATED [GARD:0005663]
synonym: "Iraqi-Jewish 'optic atrophy plus'" RELATED [OMIM:258501]
synonym: "Iraqi-Jewish optic atrophy plus" EXACT [DOID:0110004]
synonym: "MGA type III" RELATED [GARD:0005663]
synonym: "MGA, type 3" RELATED [OMIM:258501]
synonym: "MGA3" EXACT ABBREVIATION [DOID:0110004, Orphanet:67047]
synonym: "MGCA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258501]
synonym: "OPA3 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OPA3 defect" BROAD [GARD:0005663]
synonym: "OPA3, autosomal recessive" RELATED [OMIM:258501]
synonym: "optic atrophy 3, autosomal recessive" RELATED [OMIM:258501]
synonym: "optic atrophy infantile with chorea and spastic paraplegia" RELATED [GARD:0005663]
synonym: "optic atrophy plus syndrome" RELATED [OMIM:258501]
synonym: "optic atrophy, infantile, with chorea and spastic paraplegia" RELATED [OMIM:258501]
xref: DOID:0110004 {source="MONDO:equivalentTo"}
xref: GARD:5663 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:67047/attributed", source="Orphanet:67047/ntbt", source="DOID:0110004", source="Orphanet:67047"}
xref: MEDGEN:108273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535311 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="Orphanet:67047"}
xref: NANDO:1200992 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:258501 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="DOID:0110004", source="Orphanet:67047"}
xref: Orphanet:67047 {source="MONDO:equivalentTo", source="OMIM:258501", source="DOID:0110004"}
xref: SCTID:297232009 {source="MONDO:equivalentTo"}
xref: UMLS:C0574084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108273"}
is_a: MONDO:0017359 {source="DC-OMIM:258501", source="DOID:0110004", source="MONDO:Redundant", source="OMIM:258501", source="Orphanet:67047"} ! 3-methylglutaconic aciduria
intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8142 ! OPA3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8142 {source="MONDO:mim2gene_medgen"} ! OPA3

[Term]
id: MONDO:0009788
name: optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
synonym: "optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" EXACT [OMIM:258650]
xref: OMIM:258650 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_shares_features_of MONDO:0010699 ! Charcot-Marie-Tooth disease X-linked recessive 5

[Term]
id: MONDO:0009789
name: nonarteritic anterior ischemic optic neuropathy, susceptibility to
subset: predisposition
synonym: "Naion, susceptibility to" RELATED [OMIM:258660]
synonym: "nonarteritic anterior ischemic optic neuropathy, susceptibility to" EXACT [OMIM:258660]
synonym: "optic neuropathy, anterior ischemic, susceptibility to" RELATED [OMIM:258660]
synonym: "susceptibility to nonarteritic anterior ischaemic optic neuropathy" RELATED OMO:0003005 []
synonym: "susceptibility to nonarteritic anterior ischemic optic neuropathy" RELATED [OMIM:258660]
xref: MEDGEN:338294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:258660 {source="MONDO:equivalentTo"}
xref: UMLS:C1847711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338294"}
is_a: MONDO:0020573 {source="OMIM:258660"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4439 {source="MONDO:mim2gene_medgen"} ! GP1BA
relationship: predisposes_towards MONDO:0000499 ! non-arteritic anterior ischemic optic neuropathy

[Term]
id: MONDO:0009790
name: Opticocochleodentate degeneration
synonym: "Opticocochleodentate degeneration" EXACT [OMIM:258700]
xref: ICD9:333.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:101046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563002 {source="MONDO:equivalentTo"}
xref: OMIM:258700 {source="MONDO:equivalentTo"}
xref: SCTID:77553008 {source="MONDO:equivalentTo"}
xref: UMLS:C0520711 {source="MEDGEN:101046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563002/inferred"} ! hereditary disease

[Term]
id: MONDO:0009791
name: oral sensibility, disturbance of
subset: other_hierarchy
synonym: "disturbance of oral sensitivity" RELATED [GARD:0009476]
synonym: "impairment of oral perception" RELATED [GARD:0009476]
synonym: "oral sensibility, disturbance of" EXACT [OMIM:258800]
xref: MEDGEN:376745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:258800 {source="MONDO:equivalentTo", source="GARD:0009476"}
xref: UMLS:C1850269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376745"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception" xsd:anyURI {source="GARD:0009476"}

[Term]
id: MONDO:0009792
name: ichthyosis-oral and digital anomalies syndrome
def: "Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2272]
subset: gard_rare {source="GARD:2960", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2272"}
subset: ordo_malformation_syndrome {source="Orphanet:2272"}
subset: orphanet_rare {source="Orphanet:2272"}
subset: rare
synonym: "Clayton Smith-Donnai syndrome" EXACT [Orphanet:2272]
synonym: "ichthyosis tapered fingers midline groove up" RELATED [GARD:0002960]
synonym: "oral and digital anomalies with ichthyosis" RELATED [OMIM:258840]
synonym: "unusual facies, digital abnormalities, and ichthyosis" RELATED [GARD:0002960]
xref: GARD:2960 {source="MONDO:GARD"}
xref: MEDGEN:342457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536272 {source="MONDO:equivalentTo"}
xref: OMIM:258840 {source="Orphanet:2272/e", source="MONDO:equivalentTo", source="Orphanet:2272"}
xref: Orphanet:2272 {source="MONDO:equivalentTo", source="OMIM:258840"}
xref: UMLS:C1850268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342457"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2272"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015947 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009793
name: orofaciodigital syndrome III
def: "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." [Orphanet:2752]
subset: gard_rare {source="GARD:10518", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:2752"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OFD syndrome 3" RELATED [GARD:0010518]
synonym: "OFD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258850, Orphanet:2752]
synonym: "Ofds 3" RELATED [OMIM:258850]
synonym: "oral facial digital syndrome 3" RELATED [GARD:0010518]
synonym: "oral facial digital syndrome type 3" RELATED [GARD:0010518]
synonym: "oral-facial-digital syndrome type 3" EXACT [Orphanet:2752]
synonym: "oral-Facial-digital syndrome, type 3" RELATED [OMIM:258850]
synonym: "orofaciodigital syndrome 3" RELATED [GARD:0010518]
synonym: "orofaciodigital syndrome III" EXACT [MONDO:Lexical, OMIM:258850]
synonym: "orofaciodigital syndrome type 3" RELATED [Orphanet:2752]
synonym: "orofaciodigital syndrome type III" EXACT [DOID:0060373, MONDORULE:3]
synonym: "Sugarman syndrome" EXACT [DOID:0060373, OMIM:258850, Orphanet:2752]
xref: DOID:0060373 {source="MONDO:equivalentTo"}
xref: GARD:10518 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2752/attributed", source="Orphanet:2752/ntbt", source="Orphanet:2752"}
xref: MEDGEN:96069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557817 {source="DOID:0060373", source="MONDO:equivalentTo"}
xref: OMIM:258850 {source="DOID:0060373", source="Orphanet:2752", source="MONDO:equivalentTo", source="Orphanet:2752/e"}
xref: Orphanet:2752 {source="DOID:0060373", source="OMIM:258850", source="MONDO:equivalentTo"}
xref: SCTID:239030004 {source="DOID:0060373", source="MONDO:equivalentTo"}
xref: UMLS:C0406726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96069"}
is_a: MONDO:0015375 {source="DC-OMIM:258850", source="DOID:0060373", source="MESH:C557817", source="Orphanet:2752"} ! orofaciodigital syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2752", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3" xsd:anyURI {source="GARD:0010518"}

[Term]
id: MONDO:0009794
name: orofaciodigital syndrome IV
def: "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." [Orphanet:2753]
subset: gard_rare {source="GARD:816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2753"}
subset: ordo_malformation_syndrome {source="Orphanet:2753"}
subset: orphanet_rare {source="Orphanet:2753"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Baraitser-Burn syndrome" EXACT [DOID:0060374, Orphanet:2753]
synonym: "Mohr-Majewski syndrome" EXACT [OMIM:258860, Orphanet:2753]
synonym: "OFD syndrome 4" RELATED [GARD:0000816]
synonym: "Ofd syndrome with tibial defects" RELATED [OMIM:258860]
synonym: "Ofd syndrome, Baraitser-Burn type" RELATED [OMIM:258860]
synonym: "OFD4" EXACT ABBREVIATION [DOID:0060374, MONDO:Lexical, OMIM:258860, Orphanet:2753]
synonym: "Ofds 4" RELATED [OMIM:258860]
synonym: "oral facial digital syndrome 4" RELATED [GARD:0000816]
synonym: "oral facial digital syndrome type 4" RELATED [GARD:0000816]
synonym: "oral-facial-digital syndrome type 4" EXACT [Orphanet:2753]
synonym: "oral-Facial-digital syndrome, type 4" RELATED [OMIM:258860]
synonym: "orofaciodigital syndrome 4" RELATED [GARD:0000816]
synonym: "orofaciodigital syndrome IV" EXACT [MONDO:Lexical, OMIM:258860]
synonym: "orofaciodigital syndrome type 4" EXACT [MONDORULE:1, OMIM:258860]
synonym: "orofaciodigital syndrome type IV" EXACT [DOID:0060374, MONDORULE:3]
synonym: "orofaciodigital syndrome with tibial dysplasia" RELATED [GARD:0000816]
xref: DOID:0060374 {source="MONDO:equivalentTo"}
xref: GARD:816 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2753/attributed", source="Orphanet:2753/ntbt", source="Orphanet:2753"}
xref: MEDGEN:98358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537133 {source="DOID:0060374", source="MONDO:equivalentTo"}
xref: OMIM:258860 {source="DOID:0060374", source="Orphanet:2753", source="MONDO:equivalentTo", source="Orphanet:2753/e"}
xref: Orphanet:2753 {source="DOID:0060374", source="OMIM:258860", source="MONDO:equivalentTo"}
xref: SCTID:239031000 {source="DOID:0060374", source="MONDO:equivalentTo"}
xref: UMLS:C0406727 {source="MEDGEN:98358", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MESH:C537133", source="Orphanet:2753"} ! orofaciodigital syndrome
is_a: MONDO:0015929 {source="Orphanet:2753"} ! thoracic malformation
is_a: MONDO:0019691 {source="Orphanet:2753", source="PMID:31633310"} ! short rib dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2753", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24519 {source="MONDO:mim2gene_medgen"} ! TCTN3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4" xsd:anyURI {source="GARD:0000816"}

[Term]
id: MONDO:0009795
name: orofaciodigital syndrome IX
def: "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment)." [Orphanet:141007]
subset: gard_rare {source="GARD:10520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141007"}
subset: ordo_malformation_syndrome {source="Orphanet:141007"}
subset: orphanet_rare {source="Orphanet:141007"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OFD syndrome 9" RELATED [GARD:0010520]
synonym: "OFD9" EXACT ABBREVIATION [DOID:0060382, MONDO:Lexical, OMIM:258865, Orphanet:141007]
synonym: "Ofds 9" RELATED [OMIM:258865]
synonym: "oral facial digital syndrome 9" RELATED [GARD:0010520]
synonym: "oral facial digital syndrome type 9" RELATED [GARD:0010520]
synonym: "oral-facial-digital syndrome type 9" EXACT [Orphanet:141007]
synonym: "oral-Facial-digital syndrome with retinal abnormalities" RELATED [OMIM:258865]
synonym: "oral-facial-digital syndrome with retinal abnormalities" EXACT [Orphanet:141007]
synonym: "oral-Facial-digital syndrome, type 9" RELATED [OMIM:258865]
synonym: "orofaciodigital syndrome 9" RELATED [GARD:0010520]
synonym: "orofaciodigital syndrome IX" EXACT [MONDO:Lexical, OMIM:258865]
synonym: "orofaciodigital syndrome type 9" RELATED [Orphanet:141007]
synonym: "orofaciodigital syndrome type IX" EXACT [DOID:0060382, MONDORULE:3]
synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [DOID:0060382, OMIM:258865, Orphanet:141007]
xref: DOID:0060382 {source="MONDO:equivalentTo"}
xref: GARD:10520 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:141007", source="Orphanet:141007/attributed", source="Orphanet:141007/ntbt"}
xref: MEDGEN:162908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557818 {source="MONDO:equivalentTo", source="DOID:0060382"}
xref: OMIM:258865 {source="Orphanet:141007/e", source="MONDO:equivalentTo", source="Orphanet:141007", source="DOID:0060382"}
xref: Orphanet:141007 {source="MONDO:equivalentTo", source="OMIM:258865", source="DOID:0060382"}
xref: SCTID:718680001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162908"}
is_a: MONDO:0015375 {source="DC-OMIM:258865", source="DOID:0060382", source="MESH:C557818", source="Orphanet:141007"} ! orofaciodigital syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9" xsd:anyURI {source="GARD:0010520"}

[Term]
id: MONDO:0009796
name: ornithine aminotransferase deficiency
def: "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract." [Orphanet:414]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:414"}
subset: orphanet_rare {source="Orphanet:414"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fuchs atrophia gyrata chorioideae et retinae" RELATED [GARD:0006556]
synonym: "Fuchs gyrate atrophy" RELATED [MESH:C538071]
synonym: "Fuchs gyrate atrophy of the choroid and retina" RELATED [MESH:C538071]
synonym: "GACR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258870]
synonym: "Girate atrophy of the retina" RELATED [GARD:0006556]
synonym: "gyrate atrophy" EXACT [GARD:0006556, https://github.com/monarch-initiative/mondo/issues/724, OMIM:258870]
synonym: "gyrate atrophy of choroid and retina" RELATED [MONDO:Lexical, OMIM:258870]
synonym: "gyrate atrophy of choroid and retina with or without ornithinemia" EXACT [OMIM:258870, OMIM:genemap2]
synonym: "gyrate atrophy of the choroid and/or retina" EXACT [DOID:1415]
synonym: "gyrate atrophy of the retina" EXACT [DOID:1415]
synonym: "hoga" EXACT [Orphanet:414]
synonym: "hyperornithinemia" EXACT [Orphanet:414]
synonym: "hyperornithinemia with gyrate atrophy of choroid and retina" RELATED [GARD:0006556, OMIM:258870]
synonym: "hyperornithinemia-gyrate atrophy of choroid and retina syndrome" EXACT [GARD:0006556, Orphanet:414]
synonym: "OAT deficiency" RELATED [GARD:0006556]
synonym: "Oat deficiency" RELATED [OMIM:258870]
synonym: "OKT deficiency" RELATED [GARD:0006556]
synonym: "Okt deficiency" RELATED [OMIM:258870]
synonym: "ornithine aminotransferase deficiency" EXACT CLINGEN_LABEL [GARD:0006556, OMIM:258870, Orphanet:414]
synonym: "ornithine Keto acid aminotransferase deficiency" RELATED [OMIM:258870]
synonym: "ornithine ketoacid aminotransferase deficiency" RELATED [GARD:0006556]
synonym: "ornithine-Delta-aminotransferase deficiency" RELATED [OMIM:258870]
synonym: "Ornithinemia" RELATED [GARD:0007272]
synonym: "Ornithinemia with gyrate atrophy" EXACT [DOID:1415]
xref: DOID:1415 {source="MONDO:equivalentTo"}
xref: GARD:6556 {source="MONDO:GARD"}
xref: ICD10CM:E72.4 {source="Orphanet:414", source="Orphanet:414/attributed", source="Orphanet:414/ntbt"}
xref: MEDGEN:6695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537132 {source="Orphanet:414", source="Orphanet:414/e"}
xref: MESH:C538071 {source="MONDO:relatedTo"}
xref: MESH:D015799 {source="MONDO:equivalentTo", source="DOID:1415"}
xref: NANDO:2200484 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200486 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84744 {source="MONDO:equivalentTo", source="DOID:1415"}
xref: OMIM:258870 {source="GARD:0006556", source="Orphanet:414", source="MONDO:equivalentTo", source="Orphanet:414/e", source="DOID:1415"}
xref: Orphanet:414 {source="GARD:0006556", source="OMIM:258870", source="MONDO:equivalentTo"}
xref: SCTID:314466003 {source="DOID:1415"}
xref: SCTID:314467007 {source="DOID:1415"}
xref: SCTID:367536002 {source="DOID:1415"}
xref: SCTID:87126009 {source="DOID:1415"}
xref: UMLS:C0018425 {source="MEDGEN:6695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001898 {source="DOID:1415", source="MESH:D015799"} ! optic choroid disorder
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0017356 {source="Orphanet:414"} ! inborn disorder of ornithine metabolism
is_a: MONDO:0019118 {source="Orphanet:414", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8091 {source="MONDO:mim2gene_medgen"} ! OAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina" xsd:anyURI {source="GARD:0006556"}

[Term]
id: MONDO:0009797
name: orotic aciduria
def: "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." []
subset: gard_rare {source="GARD:5429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1942"}
subset: ordo_disorder {source="Orphanet:30"}
subset: orphanet_rare {source="Orphanet:30"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hereditary Orotic Aciduria" EXACT [NORD:1942]
synonym: "hereditary orotic aciduria" RELATED [Orphanet:30]
synonym: "OPRT and ODC deficiency" RELATED [OMIM:258900]
synonym: "orotate phosphoribosyltransferase and OMP decarboxylase deficiency" RELATED [GARD:0005429]
synonym: "orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency" RELATED [OMIM:258900]
synonym: "orotic aciduria" EXACT [OMIM:258900]
synonym: "orotic aciduria 1" RELATED [OMIM:258900]
synonym: "orotic aciduria II (formerly)" RELATED [GARD:0005429]
synonym: "orotic aciduria type 1" RELATED [GARD:0005429]
synonym: "orotic aciduria without megaloblastic Anaemia" RELATED OMO:0003005 []
synonym: "orotic aciduria without megaloblastic Anemia" RELATED [OMIM:258900]
synonym: "oroticaciduria" EXACT [Orphanet:30]
synonym: "oroticaciduria 1" RELATED [GARD:0005429]
synonym: "orotidylic decarboxylase deficiency" EXACT [Orphanet:30]
synonym: "orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" RELATED [OMIM:258900]
synonym: "Ump synthase deficiency" RELATED [OMIM:258900]
synonym: "UMP synthtase deficiency" RELATED [GARD:0005429]
synonym: "UMPS" RELATED ABBREVIATION [GARD:0005429]
synonym: "Umps deficiency" RELATED [OMIM:258900]
synonym: "uridine monophosphate synthase deficiency" RELATED [OMIM:258900]
synonym: "uridine monophosphate synthetase deficiency" EXACT [Orphanet:30]
xref: DOID:0050833 {source="MONDO:equivalentTo"}
xref: GARD:5429 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:30/index", source="Orphanet:30/ntbt", source="Orphanet:30"}
xref: icd11.foundation:449856959 {source="MONDO:equivalentTo", source="Orphanet:30", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10052621 {source="Orphanet:30/e", source="Orphanet:30"}
xref: MEDGEN:78642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537136 {source="Orphanet:30/e", source="Orphanet:30"}
xref: NANDO:2200590 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98944 {source="MONDO:equivalentTo"}
xref: NORD:1942 {source="MONDO:NORD"}
xref: OMIM:258900 {source="Orphanet:30/e", source="MONDO:equivalentTo", source="DOID:0050833", source="Orphanet:30"}
xref: Orphanet:30 {source="MONDO:equivalentTo", source="OMIM:258900"}
xref: SCTID:47641009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78642"}
is_a: MONDO:0019052 {source="DOID:0050833/inferred", source="NCIT:C98944", source="Orphanet:30/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019238 {source="DOID:0050833", source="Orphanet:30"} ! inborn disorder of pyrimidine metabolism
is_a: MONDO:0020112 {source="Orphanet:30"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12563 {source="MONDO:mim2gene_medgen"} ! UMPS

[Term]
id: MONDO:0009798
name: Primrose syndrome
def: "A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." [https://orcid.org/0000-0001-5208-3432, Orphanet:3042]
subset: gard_rare {source="GARD:4488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3042"}
subset: ordo_malformation_syndrome {source="Orphanet:3042"}
subset: orphanet_rare {source="Orphanet:3042"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" EXACT [Orphanet:3042]
synonym: "ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes" RELATED [OMIM:259050]
synonym: "Primrose syndrome" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40006/, OMIM:259050, Orphanet:3042]
synonym: "PRIMS" RELATED ABBREVIATION [OMIM:259050]
xref: GARD:4488 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3042/attributed", source="Orphanet:3042/ntbt", source="Orphanet:3042"}
xref: MEDGEN:162911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536420 {source="MONDO:equivalentTo"}
xref: OMIM:259050 {source="Orphanet:3042/e", source="MONDO:equivalentTo", source="Orphanet:3042"}
xref: Orphanet:3042 {source="MONDO:equivalentTo", source="OMIM:259050"}
xref: SCTID:726709001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796121 {source="MEDGEN:162911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3042", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13503 {source="MONDO:mim2gene_medgen"} ! ZBTB20
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6101" xsd:anyURI

[Term]
id: MONDO:0009799
name: obsolete pachydermoperiostosis
xref: NANDO:1200642 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100288 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3395" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016620

[Term]
id: MONDO:0009800
name: Blount disease, adolescent
subset: gard_rare {source="GARD:15217", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Blount disease, adolescent" EXACT [OMIM:259200]
synonym: "Osteochondrosis deformans tibiae, adolescent" RELATED [OMIM:259200]
synonym: "tibia vara, adolescent" RELATED [OMIM:259200]
xref: GARD:15217 {source="MONDO:GARD"}
xref: MEDGEN:462922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:259200 {source="MONDO:equivalentTo"}
xref: Orphanet:2768 {source="OMIM:259200"}
xref: UMLS:C3151572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462922"}
is_a: MONDO:0017194 {source="Orphanet:2768/btnt"} ! Blount disease

[Term]
id: MONDO:0009801
name: familial osteodysplasia, Anderson type
def: "Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982." [Orphanet:2769]
subset: gard_rare {source="GARD:4136", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2769"}
subset: ordo_malformation_syndrome {source="Orphanet:2769"}
subset: orphanet_rare {source="Orphanet:2769"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteodysplasia familial Anderson type" RELATED [GARD:0004136]
synonym: "osteodysplasia, familial, Anderson type" RELATED [OMIM:259250]
xref: GARD:4136 {source="MONDO:GARD"}
xref: MEDGEN:337990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564923 {source="MONDO:equivalentTo"}
xref: OMIM:259250 {source="Orphanet:2769/e", source="MONDO:equivalentTo", source="Orphanet:2769"}
xref: Orphanet:2769 {source="MONDO:equivalentTo", source="OMIM:259250"}
xref: UMLS:C1850186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337990"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:16476046", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type" xsd:anyURI {source="GARD:0004136"}

[Term]
id: MONDO:0009802
name: osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
synonym: "Danks Mayne Kozlowski precocious osteodysplasty" RELATED [GARD:0008662]
synonym: "osteodysplasty precocious of Danks Mayne and Kozlowski" RELATED [GARD:0008662]
synonym: "osteodysplasty, precocious, of Danks, Mayne, and Kozlowski" EXACT [OMIM:259270]
xref: MEDGEN:337989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564922 {source="MONDO:equivalentTo"}
xref: OMIM:259270 {source="MONDO:equivalentTo"}
xref: UMLS:C1850185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337989"}
is_a: MONDO:0003847 {source="MESH:C564922/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8662/osteodysplasty-precocious-of-danks-mayne-and-kozlowski" xsd:anyURI {source="GARD:0008662"}

[Term]
id: MONDO:0009803
name: congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
def: "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive." [Orphanet:2772]
subset: gard_rare {source="GARD:4139", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2772"}
subset: ordo_malformation_syndrome {source="Orphanet:2772"}
subset: orphanet_rare {source="Orphanet:2772"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteogenesis imperfecta congenita, microcephaly, and cataracts" RELATED [OMIM:259410]
xref: GARD:4139 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:2772/attributed", source="Orphanet:2772/ntbt", source="Orphanet:2772", source="MONDO:directSiblingOf"}
xref: MEDGEN:337988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537558 {source="Orphanet:2772", source="MONDO:equivalentTo", source="Orphanet:2772/e"}
xref: OMIM:259410 {source="Orphanet:2772", source="MONDO:equivalentTo", source="Orphanet:2772/e"}
xref: Orphanet:2772 {source="OMIM:259410", source="MONDO:equivalentTo"}
xref: UMLS:C1850184 {source="MEDGEN:337988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:259410"} ! hereditary disease
relationship: disease_has_feature HP:0004349 {source="Orphanet:2772"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2772", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009804
name: osteogenesis imperfecta type 3
def: "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." [Orphanet:216812]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216812"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OI type 3" EXACT [Orphanet:216812]
synonym: "OI type III" RELATED [GARD:0008695]
synonym: "OI, type 3" RELATED [OMIM:259420]
synonym: "OI3" EXACT ABBREVIATION [DOID:0110339]
synonym: "Oi3" RELATED [OMIM:259420]
synonym: "osteogenesis imperfecta type 3" EXACT CLINGEN_LABEL []
synonym: "osteogenesis imperfecta type III" EXACT [DOID:0110339]
synonym: "osteogenesis imperfecta, progressively deforming with normal sclerae" RELATED [GARD:0008695]
synonym: "osteogenesis imperfecta, progressively deforming, with normal sclerae" RELATED [OMIM:259420]
synonym: "osteogenesis imperfecta, type 3" RELATED [OMIM:259420]
synonym: "osteogenesis imperfecta, type III" RELATED [OMIM:259420]
synonym: "progressive deforming osteogenesis imperfecta" EXACT [Orphanet:216812]
synonym: "progressively deforming OI" RELATED [GARD:0008695]
synonym: "progressively deforming osteogenesis imperfecta with normal sclera" EXACT [DOID:0110339]
synonym: "severe osteogenesis imperfecta" EXACT [Orphanet:216812]
xref: DOID:0110339 {source="MONDO:equivalentTo"}
xref: GARD:8695 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:216812/attributed", source="Orphanet:216812/ntbt", source="DOID:0110339", source="Orphanet:216812"}
xref: MEDGEN:78664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536044 {source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"}
xref: NCIT:C99002 {source="MONDO:equivalentTo"}
xref: OMIM:259420 {source="DOID:0110339", source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"}
xref: Orphanet:216812 {source="OMIM:259420", source="MONDO:equivalentTo"}
xref: SCTID:385483009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78664"}
is_a: MONDO:0019019 {source="DC-OMIM:259420", source="DOID:0110339", source="MESH:C536044", source="NCIT:C99002", source="OMIM:259420", source="Orphanet:216812"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009805
name: osteogenesis imperfecta type 9
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI 9" RELATED [GARD:0010619]
synonym: "OI type IX" RELATED [GARD:0010619]
synonym: "OI, type 9" RELATED [OMIM:259440]
synonym: "OI9" EXACT ABBREVIATION [DOID:0110349, MONDO:Lexical, OMIM:259440]
synonym: "osteogenesis imperfecta caused by mutation in PPIB" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta sillence type II/III without abnormality of type I collagen" RELATED [GARD:0010619]
synonym: "osteogenesis imperfecta type 9" EXACT CLINGEN_LABEL []
synonym: "osteogenesis imperfecta type IX" EXACT [DOID:0110349]
synonym: "osteogenesis imperfecta, type 9" RELATED [OMIM:259440]
synonym: "osteogenesis imperfecta, type IX" RELATED [MONDO:Lexical, OMIM:259440]
synonym: "PPIB osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110349 {source="MONDO:equivalentTo"}
xref: GARD:10619 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110349"}
xref: MEDGEN:376720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564921 {source="MONDO:equivalentTo"}
xref: OMIM:259440 {source="DOID:0110349", source="MONDO:equivalentTo"}
xref: Orphanet:216804 {source="OMIM:259440", source="MONDO:directSiblingOf"}
xref: Orphanet:216812 {source="OMIM:259440", source="MONDO:directSiblingOf"}
xref: Orphanet:216820 {source="OMIM:259440", source="MONDO:directSiblingOf"}
xref: UMLS:C1850169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376720"}
is_a: MONDO:0019019 {source="DC-OMIM:259440", source="DOID:0110349", source="MESH:C564921", source="MONDO:Redundant", source="OMIM:259440"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9255 ! PPIB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9255 {source="MONDO:mim2gene_medgen"} ! PPIB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009806
name: Bruck syndrome 1
def: "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arthrogryposis-like disorder" EXACT [OMIM:259450]
synonym: "BRKS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259450]
synonym: "Bruck syndrome 1" EXACT [MONDO:Lexical, OMIM:259450]
synonym: "Bruck syndrome caused by mutation in FKBP10" EXACT [MONDO:design_pattern]
synonym: "Bruck syndrome type 1" EXACT [MONDORULE:1, OMIM:259450]
synonym: "FKBP10 Bruck syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Kuskokwim disease" RELATED [OMIM:259450]
xref: MEDGEN:342431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:259450 {source="MONDO:equivalentTo"}
xref: Orphanet:2771 {source="OMIM:259450"}
xref: UMLS:C1850168 {source="MONDO:equivalentTo", source="MEDGEN:342431", source="MONDO:MEDGEN"}
is_a: MONDO:0017195 {source="DC-OMIM:259450", source="MONDO:Redundant"} ! Bruck syndrome
intersection_of: MONDO:0017195 ! Bruck syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 ! FKBP10
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 {source="MONDO:mim2gene_medgen"} ! FKBP10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009807
name: osteosarcoma
def: "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs." [NCIT:C9145]
subset: otar {source="MONDO:OTAR"}
synonym: "bone tissue neoplasm" BROAD [DOID:3347]
synonym: "osteogenic sarcoma" EXACT [DOID:3347, NCIT:C9145, OMIM:259500, Orphanet:668]
synonym: "osteoid sarcoma" EXACT [DOID:3347, MONDO:patterns/location]
synonym: "osteosarcoma" EXACT [MONDO:ambiguous, NCIT:C9145]
synonym: "osteosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "osteosarcoma, malignant" EXACT [NCIT:C9145]
synonym: "sarcoma of osteoid" EXACT [MONDO:patterns/sarcoma]
synonym: "skeletal sarcoma" RELATED EXCLUDE [DOID:3347]
xref: DOID:3347 {source="MONDO:equivalentTo", source="EFO:0000637"}
xref: EFO:0000637 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002669 {source="MONDO:otherHierarchy"}
xref: ICDO:9180/3 {source="NCIT:C9145"}
xref: MEDGEN:10501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012516 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: MESH:D018213 {source="DOID:3347"}
xref: NANDO:2200048 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9145 {source="MONDO:equivalentTo", source="DOID:3347", source="EFO:0000637"}
xref: ONCOTREE:OS {source="MONDO:equivalentTo"}
xref: SCTID:189878003 {source="DOID:3347"}
xref: SCTID:21708004 {source="DOID:3347", source="EFO:0000637"}
xref: SCTID:307576001 {source="DOID:3347"}
xref: SCTID:408387006 {source="DOID:3347"}
xref: UMLS:C0029463 {source="MEDGEN:10501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DOID:3347", source="EFO:0000637", source="MONDO:Entailed", source="NCIT:C9145"} ! sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000589 "osteosarcoma (disease)" xsd:string

[Term]
id: MONDO:0009808
name: osteoid osteoma
def: "A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "osteoid osteoma" EXACT [MONDO:ambiguous, NCIT:C3297, OMIM:259550]
synonym: "osteoid osteoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0030433 {source="MONDO:otherHierarchy"}
xref: ICDO:9191/0 {source="NCIT:C3297"}
xref: MEDGEN:18221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010017 {source="MONDO:equivalentTo"}
xref: NCIT:C3297 {source="MONDO:equivalentTo"}
xref: OMIM:259550 {source="MONDO:equivalentTo"}
xref: SCTID:302859004 {source="MONDO:equivalentTo"}
xref: UMLS:C0029441 {source="MEDGEN:18221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000631 {source="NCIT:C3297"} ! bone benign neoplasm
is_a: MONDO:0045052 {source="NCIT:C3297"} ! benign osteogenic neoplasm
property_value: IAO:0000589 "osteoid osteoma (disease)" xsd:string

[Term]
id: MONDO:0009809
name: multicentric osteolysis, nodulosis, and arthropathy
def: "A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy." [NCIT:C123437]
subset: gard_rare {source="GARD:13743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Al-Aqeel Sewairi syndrome" EXACT [OMIM:259600]
synonym: "MONA" EXACT [MONDO:Lexical, OMIM:259600]
synonym: "MONA, MMP2-related" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427]
synonym: "multicentric osteolysis, nodulosis and arthropathy, MMP2-related" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427]
synonym: "multicentric osteolysis, nodulosis, and arthropathy" EXACT [MONDO:Lexical, OMIM:259600]
synonym: "NAO syndrome" EXACT [OMIM:259600]
synonym: "nodulosis-arthropathy-osteolysis syndrome" EXACT [OMIM:259600, PMID:36779427]
synonym: "osteolysis, hereditary multicentric" EXACT [OMIM:259600]
synonym: "Torg syndrome" EXACT [OMIM:259600]
synonym: "Torg-Winchester syndrome" RELATED [OMIM:259600]
synonym: "Torg-Winchester syndrome, formerly" RELATED [OMIM:259600]
synonym: "Winchester-Torg syndrome" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427]
xref: GARD:13743 {source="MONDO:GARD"}
xref: NCIT:C123437 {source="MONDO:equivalentTo"}
xref: OMIM:259600 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="NCIT:C123437"} ! syndromic disease
is_a: MONDO:0018298 {source="https://orcid.org/0000-0001-5493-2602"} ! multicentric osteolysis-nodulosis-arthropathy spectrum
is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7166 {source="MONDO:mim2gene_medgen"} ! MMP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5784" xsd:anyURI

[Term]
id: MONDO:0009810
name: autosomal recessive distal osteolysis syndrome
def: "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait." [Orphanet:2776]
subset: gard_rare {source="GARD:4299", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2776"}
subset: ordo_malformation_syndrome {source="Orphanet:2776"}
subset: orphanet_rare {source="Orphanet:2776"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal osteolysis-short stature-intellectual disability syndrome" EXACT [Orphanet:2776]
synonym: "osteolysis syndrome recessive" RELATED [GARD:0004144]
synonym: "osteolysis syndrome, recessive" RELATED [OMIM:259610]
synonym: "osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance" RELATED [OMIM:259610]
synonym: "osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance" RELATED [GARD:0004144]
synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance" RELATED DEPRECATED [OMIM:259610]
synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance" RELATED DEPRECATED [GARD:0004144]
synonym: "Petit-Fryns syndrome" EXACT [Orphanet:2776]
xref: GARD:4299 {source="MONDO:GARD"}
xref: MEDGEN:376714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536052 {source="MONDO:equivalentTo"}
xref: OMIM:259610 {source="MONDO:equivalentTo", source="Orphanet:2776", source="Orphanet:2776/e", source="GARD:0004144"}
xref: Orphanet:2776 {source="MONDO:equivalentTo", source="OMIM:259610"}
xref: SCTID:715487005 {source="MONDO:equivalentTo"}
xref: UMLS:C1850143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376714"}
is_a: MONDO:0019707 {source="Orphanet:2776"} ! primary osteolysis

[Term]
id: MONDO:0009811
name: osteoma of middle ear
synonym: "osteoma of middle ear" EXACT [OMIM:259650]
xref: MEDGEN:342425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564917 {source="MONDO:equivalentTo"}
xref: OMIM:259650 {source="MONDO:equivalentTo"}
xref: UMLS:C1850142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342425"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009812
name: obsolete osteomalacia, sclerosing, with cerebral calcification
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4966" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009821

[Term]
id: MONDO:0009813
name: chronic recurrent multifocal osteomyelitis
def: "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." [Orphanet:324964]
subset: gard_rare {source="GARD:6108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324964"}
subset: orphanet_rare {source="Orphanet:324964"}
subset: rare
synonym: "chronic multifocal osteomyelitis" EXACT [DOID:0060645]
synonym: "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis" RELATED [Orphanet:324964]
synonym: "chronic recurrent multifocal osteomyelitis" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:259680]
synonym: "chronic recurrent multifocal osteomyelitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "CMO" RELATED ABBREVIATION [GARD:0006108]
synonym: "CNO/CRMO" EXACT [Orphanet:324964]
synonym: "CRMO" EXACT ABBREVIATION [DOID:0060645, MONDO:Lexical, OMIM:259680, Orphanet:324964]
synonym: "multifocal osteomyelitis, chronic" RELATED [GARD:0006108]
synonym: "NBO" EXACT ABBREVIATION [NCIT:C119042]
synonym: "non-bacterial osteomyelitis" EXACT [NCIT:C119042]
synonym: "osteomyelitis, chronic multifocal" RELATED [OMIM:259680]
xref: DOID:0060645 {source="MONDO:equivalentTo"}
xref: GARD:6108 {source="MONDO:GARD"}
xref: HP:0002754 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M86.3 {source="Orphanet:324964", source="DOID:0060645", source="Orphanet:324964/e"}
xref: MEDGEN:140822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535456 {source="MONDO:equivalentTo"}
xref: NANDO:1200869 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200438 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119042 {source="MONDO:equivalentTo"}
xref: OMIMPS:609628 {source="MONDO:equivalentTo"}
xref: Orphanet:324964 {source="MONDO:equivalentTo", source="DOID:0060645", source="OMIM:259680"}
xref: SCTID:240151005 {source="MONDO:equivalentTo"}
xref: UMLS:C0410422 {source="MEDGEN:140822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005246 {source="DOID:0060645", source="MESH:C535456", source="NCIT:C119042"} ! osteomyelitis
is_a: MONDO:0019751 ! autoinflammatory syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609628"} ! inherited
property_value: IAO:0000589 "chronic recurrent multifocal osteomyelitis (disease)" xsd:string

[Term]
id: MONDO:0009814
name: osteopenia-intellectual disability-sparse hair syndrome
def: "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." [Orphanet:2324]
subset: gard_rare {source="GARD:354", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2324"}
subset: ordo_malformation_syndrome {source="Orphanet:2324"}
subset: orphanet_rare {source="Orphanet:2324"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kaler Garrity Stern syndrome" RELATED [GARD:0000354]
synonym: "Kaler-Garrity-Stern syndrome" EXACT [Orphanet:2324]
synonym: "osteopenia and sparse hair" RELATED [OMIM:259690]
synonym: "osteopenia intellectual disability sparse hair" RELATED [GARD:0000354]
synonym: "osteopenia mental retardation sparse hair" RELATED DEPRECATED [GARD:0000354]
xref: GARD:354 {source="MONDO:GARD"}
xref: MEDGEN:337979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537706 {source="Orphanet:2324", source="MONDO:equivalentTo", source="Orphanet:2324/e"}
xref: OMIM:259690 {source="Orphanet:2324", source="MONDO:equivalentTo", source="Orphanet:2324/e"}
xref: Orphanet:2324 {source="MONDO:equivalentTo", source="OMIM:259690"}
xref: SCTID:732954002 {source="MONDO:equivalentTo"}
xref: UMLS:C1850140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337979"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: disease_has_feature HP:0004349 {source="Orphanet:2324"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2324", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2324", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009815
name: autosomal recessive osteopetrosis 1
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Albers-Schonberg disease, autosomal recessive" RELATED [OMIM:259700]
synonym: "autosomal recessive Albers-Schonberg disease" EXACT [DOID:0110942]
synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive osteopetrosis 1" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive osteopetrosis caused by mutation in TCIRG1" EXACT []
synonym: "autosomal recessive osteopetrosis type 1" EXACT [DOID:0110942, MONDORULE:1]
synonym: "infantile malignant osteopetrosis 1" EXACT [DOID:0110942]
synonym: "marble bones autosomal recessive" RELATED [GARD:0002579]
synonym: "marble bones, autosomal recessive" RELATED [OMIM:259700]
synonym: "OPTB1" EXACT ABBREVIATION [DOID:0110942, MONDO:Lexical, OMIM:259700]
synonym: "osteopetrosis autosomal recessive 1" RELATED [GARD:0002579]
synonym: "osteopetrosis infantile malignant 1" RELATED [GARD:0002579]
synonym: "osteopetrosis, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:259700]
synonym: "osteopetrosis, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:259700]
synonym: "osteopetrosis, infantile malignant 1" RELATED [OMIM:259700]
synonym: "TCIRG1 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern]
synonym: "TCIRG1 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110942 {source="MONDO:equivalentTo"}
xref: GARD:2579 {source="MONDO:GARD"}
xref: MEDGEN:376708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564915 {source="MONDO:equivalentTo"}
xref: NCIT:C167215 {source="MONDO:equivalentTo"}
xref: OMIM:259700 {source="DOID:0110942", source="MONDO:equivalentTo"}
xref: Orphanet:667 {source="OMIM:259700"}
xref: UMLS:C1850127 {source="MEDGEN:376708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017198 {source="DOID:0110942", source="MONDO:0009815/inferred", source="MONDO:Redundant", source="OMIM:259700", source="PMID:31633310"} ! osteopetrosis
is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis
intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11647 ! TCIRG1
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11647 {source="MONDO:mim2gene_medgen"} ! TCIRG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1" xsd:anyURI {source="GARD:0002579"}

[Term]
id: MONDO:0009816
name: autosomal recessive osteopetrosis 2
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive osteopetrosis caused by mutation in TNFSF11" EXACT []
synonym: "autosomal recessive osteopetrosis type 2" EXACT [DOID:0110943, MONDORULE:1]
synonym: "mild autosomal recessive form osteopetrosis" EXACT [DOID:0110943]
synonym: "OPTB2" EXACT ABBREVIATION [DOID:0110943, MONDO:Lexical, OMIM:259710]
synonym: "osteoclast-poor osteopetrosis" EXACT [DOID:0110943]
synonym: "osteopetrosis autosomal recessive 2" RELATED [GARD:0004157]
synonym: "osteopetrosis osteoclast-poor" RELATED [GARD:0004157]
synonym: "osteopetrosis, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:259710]
synonym: "osteopetrosis, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:259710]
synonym: "osteopetrosis, mild autosomal recessive form" RELATED [OMIM:259710]
synonym: "osteopetrosis, osteoclast-poor" RELATED [OMIM:259710]
synonym: "TNFSF11 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern]
synonym: "TNFSF11 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110943 {source="MONDO:equivalentTo"}
xref: GARD:4157 {source="MONDO:GARD"}
xref: MEDGEN:342420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536059 {source="MONDO:equivalentTo"}
xref: OMIM:259710 {source="DOID:0110943", source="MONDO:equivalentTo"}
xref: Orphanet:667 {source="OMIM:259710"}
xref: UMLS:C1850126 {source="MONDO:equivalentTo", source="MEDGEN:342420", source="MONDO:MEDGEN"}
is_a: MONDO:0017198 {source="DOID:0110943", source="MONDO:Redundant", source="OMIM:259710", source="PMID:31633310"} ! osteopetrosis
is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis
intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11926 ! TNFSF11
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11926 {source="MONDO:mim2gene_medgen"} ! TNFSF11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2" xsd:anyURI {source="GARD:0004157"}

[Term]
id: MONDO:0009817
name: autosomal recessive osteopetrosis 5
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive osteopetrosis 5" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive osteopetrosis type 5" EXACT [DOID:0110939, MONDORULE:1]
synonym: "infantile malignant osteopetrosis 3" EXACT [DOID:0110939]
synonym: "OPTB5" EXACT ABBREVIATION [DOID:0110939, MONDO:Lexical, OMIM:259720]
synonym: "osteopetrosis (disease) caused by mutation in OSTM1" EXACT []
synonym: "osteopetrosis autosomal recessive 5" RELATED [GARD:0004153]
synonym: "osteopetrosis infantile malignant 3" RELATED [GARD:0004153]
synonym: "osteopetrosis, autosomal recessive 5" RELATED [MONDO:Lexical, OMIM:259720]
synonym: "osteopetrosis, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:259720]
synonym: "osteopetrosis, infantile malignant 3" RELATED [OMIM:259720]
synonym: "OSTM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110939 {source="MONDO:equivalentTo"}
xref: GARD:4153 {source="MONDO:GARD"}
xref: MEDGEN:409627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566883 {source="MONDO:equivalentTo"}
xref: OMIM:259720 {source="MONDO:equivalentTo", source="DOID:0110939"}
xref: Orphanet:85179 {source="OMIM:259720"}
xref: UMLS:C1968603 {source="MEDGEN:409627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010866 ! infantile osteopetrosis with neuroaxonal dysplasia
is_a: MONDO:0017198 {source="DOID:0110939", source="MONDO:Redundant", source="OMIM:259720", source="PMID:31633310"} ! osteopetrosis
intersection_of: MONDO:0017198 ! osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21652 ! OSTM1
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21652 {source="MONDO:mim2gene_medgen"} ! OSTM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5" xsd:anyURI {source="GARD:0004153"}

[Term]
id: MONDO:0009818
name: autosomal recessive osteopetrosis 3
def: "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." [Orphanet:2785]
subset: gard_rare {source="GARD:4154", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2785"}
subset: orphanet_rare {source="Orphanet:2785"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT [DOID:0110941]
synonym: "autosomal recessive osteopetrosis type 3" EXACT [DOID:0110941, MONDORULE:1]
synonym: "Autosomal Recessive osteopetrosis, type 3" EXACT [NCIT:C118438]
synonym: "CA2 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "carbonic anhydrase 2 deficiency" EXACT [Orphanet:2785]
synonym: "carbonic anhydrase II deficiency" EXACT [DOID:0110941]
synonym: "Guibaud Vainsel syndrome" RELATED [GARD:0004154]
synonym: "Guibaud-Vainsel syndrome" EXACT [DOID:0110941, Orphanet:2785]
synonym: "marble brain disease" EXACT [DOID:0110941, Orphanet:2785]
synonym: "mixed renal tubular acidosis" EXACT [Orphanet:2785]
synonym: "mixed RTA" EXACT [Orphanet:2785]
synonym: "OPTB3" EXACT ABBREVIATION [DOID:0110941, MONDO:Lexical, OMIM:259730]
synonym: "osteopetrosis (disease) caused by mutation in CA2" EXACT []
synonym: "osteopetrosis autosomal recessive 3" RELATED [GARD:0004154]
synonym: "osteopetrosis with renal tubular acidosis" EXACT [DOID:0110941, OMIM:259730]
synonym: "osteopetrosis, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:259730]
synonym: "osteopetrosis, autosomal recessive 3, with renal tubular acidosis" EXACT [OMIM:259730, OMIM:genemap2]
synonym: "osteopetrosis, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:259730]
synonym: "renal tubular acidosis type 3" EXACT [Orphanet:2785]
xref: DOID:0110941 {source="MONDO:equivalentTo"}
xref: GARD:4154 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:2785/attributed", source="Orphanet:2785/ntbt", source="Orphanet:2785"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536058 {source="Orphanet:2785", source="MONDO:equivalentTo", source="Orphanet:2785/e"}
xref: NCIT:C118438 {source="MONDO:equivalentTo"}
xref: OMIM:259730 {source="DOID:0110941", source="Orphanet:2785", source="MONDO:equivalentTo", source="Orphanet:2785/e"}
xref: Orphanet:2785 {source="OMIM:259730", source="MONDO:equivalentTo"}
xref: SCTID:254122007 {source="MONDO:equivalentTo"}
xref: UMLS:C0345407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91042"}
is_a: MONDO:0017198 {source="DC-OMIM:259730", source="DOID:0110941", source="MONDO:Redundant", source="OMIM:259730", source="Orphanet:2785", source="PMID:31633310"} ! osteopetrosis
intersection_of: MONDO:0017198 ! osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1373 ! CA2
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1373 {source="MONDO:mim2gene_medgen"} ! CA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3" xsd:anyURI {source="GARD:0004154"}

[Term]
id: MONDO:0009819
name: obsolete idiopathic juvenile osteoporosis
is_obsolete: true
replaced_by: MONDO:0019409

[Term]
id: MONDO:0009820
name: osteoporosis-pseudoglioma syndrome
def: "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." [Orphanet:2788]
subset: gard_rare {source="GARD:4160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2788"}
subset: orphanet_rare {source="Orphanet:2788"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ocular form of osteogenesis imperfecta" EXACT [DOID:0060849, Orphanet:2788]
synonym: "OPPG" EXACT ABBREVIATION [DOID:0060849, MONDO:Lexical, OMIM:259770, Orphanet:2788]
synonym: "Ops" RELATED [OMIM:259770]
synonym: "osteogenesis imperfecta ocular form" RELATED [GARD:0004160]
synonym: "osteogenesis imperfecta, ocular form" RELATED [OMIM:259770]
synonym: "osteoporosis pseudoglioma syndrome" RELATED [GARD:0004160]
synonym: "osteoporosis-pseudoglioma syndrome" EXACT [MONDO:Lexical, OMIM:259770]
synonym: "pseudoglioma with bone fragility" RELATED [GARD:0004160]
xref: DOID:0060849 {source="MONDO:equivalentTo"}
xref: GARD:4160 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2788", source="DOID:0060849", source="Orphanet:2788/attributed", source="Orphanet:2788/ntbt"}
xref: MedDRA:10052452 {source="Orphanet:2788", source="Orphanet:2788/e"}
xref: MEDGEN:98480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536063 {source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"}
xref: NCIT:C130998 {source="MONDO:equivalentTo"}
xref: OMIM:259770 {source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"}
xref: Orphanet:2788 {source="OMIM:259770", source="MONDO:equivalentTo", source="DOID:0060849"}
xref: UMLS:C0432252 {source="MONDO:equivalentTo", source="MEDGEN:98480", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130998"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0060849", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0020247 {source="Orphanet:2788"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0700228 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! LRP5-related exudative vitreoretinopathy
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: disease_has_feature HP:0004349 {source="Orphanet:2788"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2788", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2788", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:259770", source="Orphanet:2788"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome" xsd:anyURI {source="GARD:0004160"}

[Term]
id: MONDO:0009821
name: lethal osteosclerotic bone dysplasia
def: "Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course." [Orphanet:1832]
subset: gard_rare {source="GARD:282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1832"}
subset: ordo_malformation_syndrome {source="Orphanet:1832"}
subset: orphanet_rare {source="Orphanet:1832"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis" RELATED [GARD:0000282]
synonym: "lethal osteosclerotic bone dysplasia" EXACT CLINGEN_LABEL []
synonym: "osteomalacia, sclerosing, with cerebral calcification" EXACT [OMIM:259660]
synonym: "osteosclerotic bone dysplasia, lethal" EXACT [OMIM:259775]
synonym: "RAINE syndrome" EXACT [MONDO:Lexical, OMIM:259775]
synonym: "Raine syndrome" EXACT [Orphanet:1832]
synonym: "RNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259775]
xref: GARD:282 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:1832", source="Orphanet:1832/attributed", source="Orphanet:1832/ntbt"}
xref: MEDGEN:342416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535282 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MESH:C564916 {source="MONDO:equivalentTo"}
xref: OMIM:259660 {source="MONDO:equivalentObsolete"}
xref: OMIM:259775 {source="MONDO:equivalentTo", source="Orphanet:1832", source="Orphanet:1832/e"}
xref: Orphanet:1832 {source="MONDO:equivalentTo", source="OMIM:259775"}
xref: UMLS:C1850106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342416"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019702 {source="Orphanet:1832", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22140 {source="MONDO:mim2gene_medgen"} ! FAM20C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4966" xsd:anyURI

[Term]
id: MONDO:0009822
name: otoonychoperoneal syndrome
subset: gard_rare {source="GARD:4170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2793"}
subset: ordo_malformation_syndrome {source="Orphanet:2793"}
subset: orphanet_rare {source="Orphanet:2793"}
subset: rare
synonym: "oto-onycho-peroneal syndrome" RELATED [GARD:0004170]
synonym: "otoonychoperoneal syndrome" EXACT [OMIM:259780]
xref: GARD:4170 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2793", source="Orphanet:2793/attributed", source="Orphanet:2793/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:376704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564912 {source="MONDO:equivalentTo"}
xref: OMIM:259780 {source="Orphanet:2793", source="MONDO:equivalentTo", source="Orphanet:2793/e"}
xref: Orphanet:2793 {source="OMIM:259780", source="MONDO:equivalentTo"}
xref: SCTID:441944007 {source="MONDO:equivalentTo"}
xref: UMLS:C1850105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376704"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015161 {source="Orphanet:2793"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2793", source="Orphanet:2793/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome" xsd:anyURI {source="GARD:0004170"}

[Term]
id: MONDO:0009823
name: primary hyperoxaluria type 1
def: "A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." [Orphanet:93598]
subset: gard_rare {source="GARD:2835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93598"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGXT primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "alanine-glyoxylate aminotransferase deficiency" RELATED [OMIM:259900]
synonym: "glycolic aciduria" EXACT [OMIM:259900, Orphanet:93598]
synonym: "hepatic AGT deficiency" RELATED [OMIM:259900]
synonym: "HP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259900]
synonym: "hyperoxaluria, primary, type 1" RELATED [OMIM:259900]
synonym: "hyperoxaluria, primary, type I" RELATED [MONDO:Lexical, OMIM:259900]
synonym: "Oxalosis 1" RELATED [OMIM:259900]
synonym: "peroxisomal alanine glyoxylate aminotransferase deficiency" RELATED [GARD:0002835]
synonym: "peroxisomal alanine-glyoxylate aminotransferase deficiency" EXACT [Orphanet:93598]
synonym: "peroxisomal alanine:glyoxylate aminotransferase deficiency" RELATED [OMIM:259900]
synonym: "PH1" EXACT ABBREVIATION [Orphanet:93598]
synonym: "primary hyperoxaluria caused by mutation in AGXT" EXACT [MONDO:design_pattern]
synonym: "primary hyperoxaluria type 1" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/working-groups/dosage-sensitivity-curation/]
synonym: "primary hyperoxaluria type I" EXACT [NCIT:C123212, PMID:16756494]
synonym: "serine pyruvate aminotransferase deficiency" RELATED [GARD:0002835]
synonym: "serine:pyruvate aminotransferase deficiency" RELATED [OMIM:259900]
xref: DOID:0111670 {source="MONDO:equivalentTo"}
xref: GARD:2835 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:93598", source="Orphanet:93598/attributed", source="Orphanet:93598/ntbt"}
xref: icd11.foundation:692812009 {source="MONDO:equivalentTo", source="Orphanet:93598"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536414 {source="MONDO:equivalentTo", source="Orphanet:93598", source="Orphanet:93598/e"}
xref: NANDO:1200773 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123212 {source="MONDO:equivalentTo"}
xref: OMIM:259900 {source="MONDO:equivalentTo", source="Orphanet:93598", source="Orphanet:93598/e"}
xref: Orphanet:416 {source="OMIM:259900"}
xref: Orphanet:93598 {source="MONDO:equivalentTo", source="OMIM:259900"}
xref: SCTID:65520001 {source="MONDO:equivalentTo"}
xref: UMLS:C0268164 {source="MEDGEN:75658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002474 {source="DC-OMIM:259900", source="MESH:C536414", source="MONDO:Redundant", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598"} ! primary hyperoxaluria
is_a: MONDO:0100278 {source="PMID:16756494", source="https://www.clinicalgenome.org/affiliation/40049/"} ! alanine glyoxylate aminotransferase deficiency
intersection_of: MONDO:0002474 ! primary hyperoxaluria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/341 ! AGXT
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:93598", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/341 {source="MONDO:mim2gene_medgen"} ! AGXT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1" xsd:anyURI {source="GARD:0002835"}

[Term]
id: MONDO:0009824
name: primary hyperoxaluria type 2
def: "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." [Orphanet:93599]
subset: gard_rare {source="GARD:2836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93599"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "D-glycerate dehydrogenase deficiency" EXACT [OMIM:260000, Orphanet:93599]
synonym: "glyceric aciduria" RELATED [OMIM:260000]
synonym: "glyoxylate reductase/hydroxypyruvate reductase deficiency" RELATED [OMIM:260000]
synonym: "GRHPR primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260000]
synonym: "hyperoxaluria, primary, type 2" RELATED [OMIM:260000]
synonym: "hyperoxaluria, primary, type II" RELATED [MONDO:Lexical, OMIM:260000]
synonym: "L-glyceric aciduria" EXACT [Orphanet:93599]
synonym: "Oxalosis 2" RELATED [OMIM:260000]
synonym: "primary hyperoxaluria caused by mutation in GRHPR" EXACT [MONDO:design_pattern]
synonym: "primary hyperoxaluria type 2" EXACT CLINGEN_LABEL []
synonym: "primary hyperoxaluria type II" EXACT [NCIT:C123213]
xref: DOID:0111671 {source="MONDO:equivalentTo"}
xref: GARD:2836 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:93599", source="Orphanet:93599/attributed", source="Orphanet:93599/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536415 {source="MONDO:equivalentTo"}
xref: NCIT:C123213 {source="MONDO:equivalentTo"}
xref: OMIM:260000 {source="MONDO:equivalentTo", source="Orphanet:93599", source="Orphanet:93599/e"}
xref: Orphanet:416 {source="OMIM:260000"}
xref: Orphanet:93599 {source="MONDO:equivalentTo", source="OMIM:260000"}
xref: SCTID:40951006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268165 {source="MEDGEN:120616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002474 {source="DC-OMIM:260000", source="MESH:C536415", source="MONDO:Redundant", source="NCIT:C123213", source="OMIM:260000", source="Orphanet:93599"} ! primary hyperoxaluria
intersection_of: MONDO:0002474 ! primary hyperoxaluria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4570 ! GRHPR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4570 {source="MONDO:mim2gene_medgen"} ! GRHPR
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2" xsd:anyURI {source="GARD:0002836"}

[Term]
id: MONDO:0009825
name: 5-oxoprolinase deficiency
def: "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." [Orphanet:33572]
subset: gard_rare {source="GARD:5681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33572"}
subset: orphanet_rare {source="Orphanet:33572"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5-alpha-oxoprolinase deficiency" RELATED [GARD:0005681]
synonym: "5-oxoprolinase deficiency" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:260005]
synonym: "5-oxoprolinase deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder" EXACT []
synonym: "inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "OPLAHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260005]
synonym: "oxoprolinuria due to 5-oxoprolinase deficiency" RELATED [OMIM:260005]
synonym: "oxoprolinuria due to oxoprolinase deficiency" EXACT [Orphanet:33572]
synonym: "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:5681 {source="MONDO:GARD"}
xref: HP:0040142 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E72.8 {source="Orphanet:33572/attributed", source="Orphanet:33572/ntbt", source="Orphanet:33572"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535322 {source="Orphanet:33572/e", source="MONDO:equivalentTo", source="Orphanet:33572"}
xref: OMIM:260005 {source="Orphanet:33572/e", source="MONDO:equivalentTo", source="Orphanet:33572"}
xref: Orphanet:33572 {source="OMIM:260005", source="MONDO:equivalentTo"}
xref: SCTID:26132002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82814"}
is_a: MONDO:0019241 {source="Orphanet:33572"} ! inborn disorder of the gamma-glutamyl cycle
is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0017168 ! 5-oxoprolinase (ATP-hydrolyzing) activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8149 {source="MONDO:mim2gene_medgen"} ! OPLAH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000589 "5-oxoprolinase deficiency (disease)" xsd:string

[Term]
id: MONDO:0009826
name: PA polymorphism of alpha-2-globulin
synonym: "Alpha-2-globulin polymorphism Pa" RELATED [OMIM:260100]
synonym: "PA polymorphism of alpha-2-globulin" EXACT [OMIM:260100]
xref: MEDGEN:342415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:260100 {source="MONDO:equivalentTo"}
xref: UMLS:C1850104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342415"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009827
name: obsolete pachyonychia congenita, autosomal recessive
synonym: "pachyonychia congenita, autosomal recessive" EXACT [OMIM:260130]
xref: GARD:15219 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C538094 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:260130 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5055" xsd:anyURI
is_obsolete: true
consider: MONDO:0016471

[Term]
id: MONDO:0009828
name: palant cleft palate syndrome
synonym: "Palant cleft palate syndrome" EXACT [OMIM:260150]
synonym: "unusual facies, cleft palate, intellectual disability, and limb abnormalities" RELATED [GARD:0004198]
synonym: "unusual facies, cleft palate, mental retardation, and limb abnormalities" RELATED DEPRECATED [GARD:0004198]
xref: MEDGEN:337971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538102 {source="MONDO:equivalentTo"}
xref: OMIM:260150 {source="MONDO:equivalentTo"}
xref: UMLS:C1850102 {source="MEDGEN:337971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4198/palant-cleft-palate-syndrome" xsd:anyURI {source="GARD:0004198"}

[Term]
id: MONDO:0009829
name: obsolete pallidal degeneration, progressive, with retinitis pigmentosa
comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0007132
synonym: "pallidal degeneration, progressive, with retinitis pigmentosa" EXACT [OMIM:260200]
xref: MESH:C564910 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:260200 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true
consider: HP:0007132

[Term]
id: MONDO:0009830
name: parkinsonian-pyramidal syndrome
def: "A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3." [DOID:0060372, PMID:22315721]
subset: gard_rare {source="GARD:9175", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:171695"}
subset: orphanet_rare {source="Orphanet:171695"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT [DOID:0060372]
synonym: "autosomal recessive early-onset Parkinson disease type 15" EXACT [DOID:0060372, MONDORULE:2]
synonym: "autosomal recessive early-onset Parkinson's disease 15" RELATED [DOID:0060372]
synonym: "pallido-pyramidal disease" RELATED [GARD:0009175]
synonym: "pallido-pyramidal syndrome" RELATED [OMIM:260300]
synonym: "Pallidopyramidal syndrome" EXACT [OMIM:260300, Orphanet:171695]
synonym: "pallidopyramidal syndrome" EXACT [DOID:0060372]
synonym: "PARK15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260300]
synonym: "Parkinson disease 15, autosomal recessive" EXACT [OMIM:260300, OMIM:genemap2]
synonym: "Parkinson disease 15, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:260300]
synonym: "parkinsonian-pyramidal syndrome" EXACT CLINGEN_LABEL [DOID:0060372, OMIM:260300]
xref: DOID:0060372 {source="MONDO:equivalentTo"}
xref: GARD:9175 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="Orphanet:171695", source="Orphanet:171695/attributed", source="Orphanet:171695/ntbt"}
xref: MEDGEN:337969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538104 {source="MONDO:equivalentTo"}
xref: OMIM:260300 {source="MONDO:equivalentTo", source="Orphanet:171695", source="DOID:0060372", source="Orphanet:171695/e"}
xref: Orphanet:171695 {source="MONDO:equivalentTo", source="OMIM:260300"}
xref: UMLS:C1850100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337969"}
is_a: MONDO:0005180 {source="DOID:0060372/inferred", source="MONDO:Redundant", source="OMIM:260300"} ! Parkinson disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13586 {source="MONDO:mim2gene_medgen"} ! FBXO7
relationship: predisposes_towards MONDO:0017279 {source="DOID:0060372"} ! young-onset Parkinson disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009831
name: malignant pancreatic neoplasm
def: "A malignant neoplasm involving the pancreas." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "Ca body of pancreas" EXACT [DOID:1793]
synonym: "Ca head of pancreas" EXACT [DOID:1793]
synonym: "Ca tail of pancreas" EXACT [DOID:1793]
synonym: "cancer of pancreas" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of body of pancreas" EXACT [DOID:1793]
synonym: "malignant neoplasm of head of pancreas" EXACT [DOID:1793]
synonym: "malignant neoplasm of pancreas" EXACT [MONDO:patterns/cancer, NCIT:C9005]
synonym: "malignant neoplasm of tail of pancreas" EXACT [DOID:1793]
synonym: "malignant neoplasm of the pancreas" EXACT [NCIT:C9005]
synonym: "malignant pancreas neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant pancreatic neoplasm" EXACT [NCIT:C9005]
synonym: "pancreas cancer" EXACT [MONDO:patterns/location]
synonym: "pancreas neoplasm" BROAD [DOID:1793]
synonym: "pancreatic cancer" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pancreatic neoplasm" RELATED EXCLUDE [DOID:1793]
synonym: "pancreatic tumor" RELATED EXCLUDE [DOID:1793]
synonym: "pancreatic tumour" RELATED OMO:0003005 []
xref: DOID:1793 {source="MONDO:equivalentTo"}
xref: EFO:1000359 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C25.9 {source="MONDO:ICD_NOS"}
xref: ICD9:157.0 {source="DOID:1793"}
xref: ICD9:157.1 {source="DOID:1793"}
xref: ICD9:157.2 {source="DOID:1793"}
xref: ICD9:157.8 {source="DOID:1793"}
xref: MESH:D010190 {source="DOID:1793"}
xref: NCIT:C9005 {source="MONDO:equivalentTo"}
xref: Orphanet:1333 {source="DOID:1793", source="OMIM:260350"}
xref: SCTID:126859007 {source="DOID:1793"}
xref: SCTID:154476001 {source="DOID:1793"}
xref: SCTID:154477005 {source="DOID:1793"}
xref: SCTID:154478000 {source="DOID:1793"}
xref: SCTID:187791002 {source="DOID:1793"}
xref: SCTID:187792009 {source="DOID:1793"}
xref: SCTID:187796007 {source="DOID:1793"}
xref: SCTID:269553001 {source="DOID:1793"}
xref: SCTID:269554007 {source="DOID:1793"}
xref: SCTID:269555008 {source="DOID:1793"}
xref: SCTID:363419009 {source="DOID:1793"}
xref: SCTID:93715005 {source="DOID:1793"}
xref: SCTID:93823001 {source="DOID:1793"}
xref: SCTID:94082003 {source="DOID:1793"}
is_a: MONDO:0002516 {source="MONDO:Redundant", source="NCIT:C9005"} ! digestive system cancer
is_a: MONDO:0021040 {source="EFO:1000359", source="MONDO:Redundant", source="NCIT:C9005"} ! pancreatic neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001264 ! pancreas
relationship: disease_has_feature HP:0001735 {source="MONDO:Wikidata"} ! Acute pancreatitis
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0006515 {source="MONDO:Wikidata"} ! acute pancreatitis

[Term]
id: MONDO:0009832
name: pancreatic agenesis
def: "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." [Orphanet:2805]
subset: gard_rare {source="GARD:4203", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2805"}
subset: ordo_morphological_anomaly {source="Orphanet:2805"}
subset: orphanet_rare {source="Orphanet:2805"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "congenital pancreatic agenesis" EXACT [Orphanet:2805]
synonym: "PAGEN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260370]
synonym: "pancreatic agenesis 1" RELATED [MONDO:Lexical, OMIM:260370]
synonym: "pancreatic agenesis type 1" EXACT [MONDORULE:1, OMIM:260370]
synonym: "partial agenesis of the pancreas" EXACT [Orphanet:2805]
synonym: "partial pancreatic agenesis" EXACT [DOID:0050877]
xref: DOID:0050877 {source="MONDO:equivalentTo"}
xref: GARD:4203 {source="MONDO:GARD"}
xref: ICD10CM:Q45.0 {source="Orphanet:2805/attributed", source="Orphanet:2805/ntbt", source="Orphanet:2805"}
xref: icd11.foundation:634711891 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:2805"}
xref: MEDGEN:1681783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564908 {source="MONDO:equivalentTo"}
xref: OMIMPS:260370 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2805 {source="MONDO:equivalentTo", source="OMIM:260370"}
xref: SCTID:719044008 {source="MONDO:equivalentTo"}
xref: UMLS:C5195568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681783"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:260370"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0009833
name: Shwachman-Diamond syndrome
def: "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." [Orphanet:811]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1711"}
subset: ordo_disorder {source="Orphanet:811"}
subset: orphanet_rare {source="Orphanet:811"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital lipomatosis of pancreas" RELATED [GARD:0004863]
synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400]
synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [DOID:0060479, Orphanet:811]
synonym: "Schwachman-Diamond syndrome" EXACT [OMIMPS:260400]
synonym: "Schwachmann-Diamond syndrome" EXACT [NCIT:C61235]
synonym: "SDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:260400, Orphanet:811]
synonym: "Shwachman Diamond Syndrome" EXACT [NORD:1711]
synonym: "Shwachman syndrome" EXACT [DOID:0060479, Orphanet:811]
synonym: "Shwachman-Bodian syndrome" RELATED [OMIM:260400]
synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [DOID:0060479, Orphanet:811]
synonym: "Shwachman-Diamond syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:260400]
synonym: "Shwachman-Diamond type metaphyseal dysplasia" RELATED [DOID:0080023]
xref: DOID:0060479 {source="MONDO:equivalentTo"}
xref: DOID:0080023 {source="MONDO:equivalentObsolete"}
xref: GARD:4863 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:811/inclusion", source="Orphanet:811/ntbt", source="Orphanet:811", source="DOID:0060479"}
xref: MedDRA:10067940 {source="Orphanet:811", source="Orphanet:811/e"}
xref: MEDGEN:124418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537330 {source="DOID:0060479", source="MONDO:equivalentTo"}
xref: NANDO:1200356 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200756 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61235 {source="MONDO:equivalentTo"}
xref: NORD:1711 {source="MONDO:NORD"}
xref: OMIMPS:260400 {source="MONDO:equivalentTo"}
xref: Orphanet:811 {source="MONDO:equivalentTo", source="OMIM:260400"}
xref: SCTID:89454001 {source="MONDO:equivalentTo"}
xref: UMLS:C0272170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124418"}
is_a: MONDO:0002254 {source="https://github.com/monarch-initiative/mondo/issues/859"} ! syndromic disease
is_a: MONDO:0006025 {source="Wikipedia:Shwachman%E2%80%93Diamond_syndrome#Genetics"} ! autosomal recessive disease
relationship: excluded_subClassOf MONDO:0000841 {source="DOID:0080023", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0001713 {source="Orphanet:811", source="https://orcid.org/0000-0001-5208-3432"} ! inherited aplastic anemia
relationship: excluded_subClassOf MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:811", source="https://orcid.org/0000-0001-5208-3432"} ! pancreas disorder
relationship: excluded_subClassOf MONDO:0015945 {source="Orphanet:811", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete polymalformative genetic syndrome with increased risk of developing cancer
relationship: excluded_subClassOf MONDO:0015978 {source="Orphanet:811", source="https://orcid.org/0000-0001-5208-3432"} ! functional neutrophil defect
relationship: excluded_subClassOf MONDO:0019693 {source="Orphanet:811", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete multiple metaphyseal dysplasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:260400"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome" xsd:anyURI {source="GARD:0004863"}

[Term]
id: MONDO:0009834
name: obsolete pancreatic insufficiency, combined exocrine
is_obsolete: true
replaced_by: MONDO:0009479

[Term]
id: MONDO:0009835
name: subacute sclerosing panencephalitis
def: "A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." [Orphanet:2806]
subset: gard_rare {source="GARD:7708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1743"}
subset: ordo_disorder {source="Orphanet:2806"}
subset: orphanet_rare {source="Orphanet:2806"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dawson disease" RELATED [GARD:0007708]
synonym: "Dawson encephalitis" RELATED [GARD:0007708]
synonym: "Dawson's encephalitis" EXACT [Orphanet:2806]
synonym: "Immunosuppressive measles encephalitis" EXACT [DOID:8970]
synonym: "panencephalitis, SUBACUTE sclerosing" RELATED [OMIM:260470]
synonym: "SSPE" EXACT ABBREVIATION [Orphanet:2806]
synonym: "Subacute inclusion body encephalitis" EXACT [Orphanet:2806]
synonym: "Subacute sclerosing leukoencephalitis" RELATED [Orphanet:2806]
synonym: "subacute sclerosing leukoencephalopathy" EXACT [DOID:8970]
synonym: "Subacute sclerosing panencephalitis" EXACT [DOID:8970, MTH:NOCODE, Orphanet:2806]
synonym: "subacute sclerosing panencephalitis" EXACT [OMIM:260470]
synonym: "Subacute sclerosing panencephalitis (disorder) [ambiguous]" EXACT [DOID:8970]
synonym: "Van Bogaert disease" EXACT [Orphanet:2806]
synonym: "Van Bogaert encephalitis" EXACT [Orphanet:2806]
synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [DOID:8970]
xref: DOID:8970 {source="EFO:0007502", source="MONDO:equivalentTo"}
xref: EFO:0007502 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7708 {source="MONDO:GARD"}
xref: ICD10CM:A81.1 {source="MONDO:equivalentTo", source="Orphanet:2806/ntbt", source="DOID:8970", source="Orphanet:2806"}
xref: icd11.foundation:1098683540 {source="MONDO:equivalentTo", source="Orphanet:2806"}
xref: ICD9:046.2 {source="DOID:8970"}
xref: MEDGEN:52527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013344 {source="EFO:0007502", source="MONDO:equivalentTo", source="DOID:8970"}
xref: NANDO:1200195 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200196 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200198 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100245 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200899 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85171 {source="MONDO:equivalentTo", source="DOID:8970"}
xref: NORD:1743 {source="MONDO:NORD"}
xref: OMIM:260470 {source="Orphanet:2806/e", source="MONDO:equivalentTo", source="DOID:8970", source="Orphanet:2806"}
xref: Orphanet:2806 {source="MONDO:equivalentTo", source="OMIM:260470"}
xref: SCTID:186484007 {source="DOID:8970"}
xref: SCTID:192685000 {source="DOID:8970"}
xref: SCTID:359686005 {source="DOID:8970"}
xref: SCTID:416154000 {source="DOID:8970"}
xref: SCTID:84196008 {source="DOID:8970"}
xref: UMLS:C0038522 {source="MONDO:equivalentTo", source="MEDGEN:52527", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="MONDO:Redundant", source="MONDO:indirect"} ! viral infectious disease
is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C85171"} ! viral encephalitis
relationship: disease_has_infectious_agent NCBITaxon:11234 ! Measles morbillivirus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis" xsd:anyURI {source="GARD:0007708"}

[Term]
id: MONDO:0009836
name: pancreatitis, sclerosing cholangitis, and sicca complex
synonym: "pancreatitis, sclerosing cholangitis, and sicca complex" EXACT [OMIM:260480]
xref: MEDGEN:340461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564906 {source="MONDO:equivalentTo"}
xref: OMIM:260480 {source="MONDO:equivalentTo"}
xref: UMLS:C1850080 {source="MEDGEN:340461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009837
name: choroid plexus papilloma
def: "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." [Orphanet:2807]
subset: gard_rare {source="GARD:4214", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2807"}
subset: orphanet_rare {source="Orphanet:2807"}
subset: rare
synonym: "childhood choroid plexus papilloma" NARROW [DOID:2626]
synonym: "childhood papilloma of choroid plexus" NARROW [DOID:2626]
synonym: "choroid plexus carcinoma" RELATED [OMIM:260500]
synonym: "choroid plexus papilloma" EXACT [MONDO:patterns/location, NCIT:C3698, OMIM:260500, Orphanet:2807]
synonym: "choroid plexus papilloma NOS (morphologic abnormality)" NARROW [DOID:2626]
synonym: "choroid plexus papilloma, no ICD-O subtype" EXACT [DOID:2626]
synonym: "CPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260500, Orphanet:2807]
synonym: "paediatric papilloma of choroid plexus" NARROW OMO:0003005 []
synonym: "papilloma of choroid plexus" RELATED [MONDO:Lexical, NCIT:C3698, OMIM:260500]
synonym: "papilloma of the choroid plexus" EXACT [DOID:2626, NCIT:C3698]
synonym: "papilloma, choroid plexus, benign" RELATED [NCIT:C3698]
synonym: "pediatric papilloma of choroid plexus" NARROW [DOID:2626, NCIT:C5800]
xref: DOID:2626 {source="MONDO:equivalentTo"}
xref: GARD:4214 {source="MONDO:GARD"}
xref: ICD10CM:D33.0 {source="Orphanet:2807/ntbt", source="Orphanet:2807"}
xref: ICDO:9390/0 {source="NCIT:C3698"}
xref: MedDRA:10008777 {source="Orphanet:2807/e", source="Orphanet:2807"}
xref: MEDGEN:64439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020288 {source="Orphanet:2807/e", source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807"}
xref: NANDO:2200093 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3698 {source="MONDO:equivalentTo", source="DOID:2626"}
xref: NCIT:C5800 {source="DOID:2626"}
xref: OMIM:260500 {source="Orphanet:2807/e", source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807"}
xref: ONCOTREE:CPP {source="MONDO:equivalentTo"}
xref: Orphanet:251899 {source="OMIM:260500", source="MONDO:directSiblingOf"}
xref: Orphanet:2807 {source="OMIM:260500", source="MONDO:equivalentTo"}
xref: SCTID:18021007 {source="DOID:2626"}
xref: SCTID:189911002 {source="DOID:2626"}
xref: SCTID:425868004 {source="MONDO:equivalentTo"}
xref: UMLS:C0205770 {source="MEDGEN:64439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002363 {source="DOID:2626", source="MONDO:Redundant", source="NCIT:C3698"} ! papilloma
is_a: MONDO:0016717 {source="NCIT:C3698/inferred", source="ONCOTREE:CPP", source="Orphanet:2807"} ! choroid plexus neoplasm
is_a: MONDO:0044764 {source="MONDO:Redundant", source="NCIT:C3698"} ! benign choroid plexus neoplasm
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_has_location UBERON:0001886 ! choroid plexus
relationship: has_characteristic MONDO:0024491 {source="NCIT:C3698"} ! tumor grade 1, general grading system
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53

[Term]
id: MONDO:0009838
name: Parana hard-skin syndrome
def: "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." [NCIT:C126559]
subset: gard_rare {source="GARD:2598", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2812"}
subset: orphanet_rare {source="Orphanet:2812"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hard skin syndrome Parana type" EXACT [NCIT:C126559]
synonym: "hard skin syndrome, Parana type" EXACT [Orphanet:2812]
synonym: "hard-skin syndrome, Parana type" EXACT [Orphanet:2812]
synonym: "Parana hard skin syndrome" RELATED [Orphanet:2812]
synonym: "Parana hard-skin syndrome" EXACT [OMIM:260530]
xref: GARD:2598 {source="MONDO:GARD"}
xref: ICD10CM:L91.8 {source="Orphanet:2812", source="Orphanet:2812/attributed", source="Orphanet:2812/ntbt"}
xref: MEDGEN:337964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564905 {source="MONDO:equivalentTo"}
xref: NCIT:C126559 {source="MONDO:equivalentTo"}
xref: OMIM:260530 {source="MONDO:equivalentTo", source="Orphanet:2812", source="Orphanet:2812/e"}
xref: Orphanet:2812 {source="MONDO:equivalentTo", source="OMIM:260530"}
xref: UMLS:C1850079 {source="MEDGEN:337964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C126559"} ! syndromic disease
is_a: MONDO:0005093 {source="Orphanet:2812", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder

[Term]
id: MONDO:0009839
name: progressive supranuclear palsy-parkinsonism syndrome
def: "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." [Orphanet:240085]
subset: gard_rare {source="GARD:17183", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:240085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical PSP" RELATED [GARD:0004507]
synonym: "Parkinson-dementia syndrome" RELATED [OMIM:260540]
synonym: "progressive supranuclear palsy atypical" RELATED [GARD:0004507]
synonym: "PSP-p" EXACT [Orphanet:240085]
synonym: "PSP-parkinsonism" EXACT [Orphanet:240085]
synonym: "Steele-Richardson-Olszewski syndrome, atypical" RELATED [OMIM:260540]
synonym: "supranuclear palsy, progressive atypical" EXACT [OMIM:260540, OMIM:genemap2]
synonym: "supranuclear palsy, progressive, 1, atypical" RELATED [OMIM:260540]
xref: GARD:17183 {source="MONDO:GARD"}
xref: ICD10CM:G23.1 {source="Orphanet:240085", source="Orphanet:240085/attributed", source="Orphanet:240085/ntbt"}
xref: MEDGEN:342410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537240 {source="MONDO:equivalentTo"}
xref: OMIM:260540 {source="Orphanet:240085", source="MONDO:equivalentTo", source="Orphanet:240085/e"}
xref: Orphanet:240085 {source="MONDO:equivalentTo", source="OMIM:260540"}
xref: Orphanet:683 {source="OMIM:260540"}
xref: Orphanet:99750 {source="OMIM:260540"}
xref: UMLS:C1850077 {source="MEDGEN:342410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020488 {source="Orphanet:240085"} ! atypical progressive supranuclear palsy syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6893 {source="MONDO:mim2gene_medgen"} ! MAPT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009840
name: Partington-Anderson syndrome
synonym: "Partington-Anderson syndrome" EXACT [OMIM:260555]
xref: MEDGEN:376699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536299 {source="MONDO:equivalentTo"}
xref: OMIM:260555 {source="MONDO:equivalentTo"}
xref: Orphanet:2829 {source="OMIM:260555", source="MONDO:equivalentObsolete"}
xref: UMLS:C1850075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376699"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009841
name: PEHO syndrome
def: "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." [Orphanet:2836]
subset: gard_rare {source="GARD:4264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2836"}
subset: orphanet_rare {source="Orphanet:2836"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile Cerebellooptic atrophy" RELATED [OMIM:260565]
synonym: "peho" RELATED [OMIM:260565]
synonym: "peho syndrome" EXACT [OMIM:260565]
synonym: "peho-like syndrome" RELATED [OMIM:260565]
synonym: "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy" EXACT [Orphanet:2836]
synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" RELATED [OMIM:260565]
synonym: "progressive encephalopathy-optic atrophy syndrome" EXACT [Orphanet:2836]
xref: DOID:0080539 {source="MONDO:equivalentTo"}
xref: GARD:4264 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:2836", source="Orphanet:2836/attributed", source="Orphanet:2836/ntbt"}
xref: MEDGEN:342404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536317 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"}
xref: OMIM:260565 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"}
xref: Orphanet:2836 {source="MONDO:equivalentTo", source="OMIM:260565"}
xref: Orphanet:99807 {source="OMIM:260565"}
xref: UMLS:C1850055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342404"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:2836"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:2836", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome" xsd:anyURI {source="GARD:0004264"}

[Term]
id: MONDO:0009842
name: Pelger-Huet-like anomaly and episodic fever with abdominal pain
def: "An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε." [PMID:31201888]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "immunodeficiency 108 with autoinflammation" EXACT [OMIM:260570]
synonym: "Pelger-Huet-like anomaly and episodic fever with abdominal pain" EXACT [OMIM:260570]
xref: MEDGEN:376692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564899 {source="MONDO:equivalentTo"}
xref: OMIM:260570 {source="MONDO:equivalentTo"}
xref: UMLS:C1850054 {source="MEDGEN:376692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0009843
name: hypomyelinating leukodystrophy 3
def: "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4266", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280293"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIMP1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HLD3" EXACT ABBREVIATION [DOID:0060790, MONDO:Lexical, OMIM:260600]
synonym: "hypomyelinating leukodystrophy 3" EXACT CLINGEN_LABEL []
synonym: "hypomyelinating leukodystrophy type 3" EXACT [DOID:0060790, MONDORULE:1]
synonym: "leukodystrophy caused by mutation in AIMP1" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating 3" RELATED [GARD:0004266]
synonym: "leukodystrophy, hypomyelinating, 3" RELATED [MONDO:Lexical, OMIM:260600]
synonym: "leukodystrophy, hypomyelinating, type 3" EXACT [MONDORULE:1, OMIM:260600]
synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [DOID:0060790]
synonym: "perinatal Sudanophilic leukodystrophy" RELATED [GARD:0004266]
xref: DOID:0060790 {source="MONDO:equivalentTo"}
xref: GARD:4266 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:280293/attributed", source="Orphanet:280293/ntbt", source="Orphanet:280293", source="DOID:0060790"}
xref: MEDGEN:342403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536319 {source="MONDO:equivalentTo"}
xref: OMIM:260600 {source="Orphanet:280293", source="MONDO:equivalentTo", source="Orphanet:280293/e", source="DOID:0060790"}
xref: Orphanet:280270 {source="OMIM:260600"}
xref: Orphanet:280293 {source="OMIM:260600", source="MONDO:equivalentTo", source="DOID:0060790"}
xref: UMLS:C1850053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342403"}
is_a: MONDO:0017226 {source="Orphanet:280293"} ! Pelizaeus-Merzbacher-like disease
is_a: MONDO:0019046 {source="DOID:0060790", source="DOID:0060790/inferred", source="MONDO:Redundant", source="OMIM:260600", source="Orphanet:280293/inferred"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10648 ! AIMP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10648 {source="MONDO:mim2gene_medgen"} ! AIMP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3" xsd:anyURI {source="GARD:0004266"}

[Term]
id: MONDO:0009844
name: pellagra-like syndrome
subset: gard_rare {source="GARD:4267", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pellagra like syndrome" RELATED [GARD:0004267]
synonym: "pellagra-like rash with neurologic manifestations" RELATED [GARD:0004267]
synonym: "pellagra-like skin rash-neurological manifestations syndrome" EXACT [Orphanet:2837]
synonym: "pellagra-like syndrome" EXACT [OMIM:260650]
xref: GARD:4267 {source="MONDO:GARD"}
xref: MEDGEN:337955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538352 {source="MONDO:equivalentTo"}
xref: OMIM:260650 {source="MONDO:equivalentTo"}
xref: Orphanet:2837 {source="MONDO:equivalentObsolete", source="OMIM:260650"}
xref: UMLS:C1850052 {source="MEDGEN:337955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:2837/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome" xsd:anyURI {source="GARD:0004267"}

[Term]
id: MONDO:0009845
name: pelviscapular dysplasia
def: "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." [Orphanet:93333]
subset: gard_rare {source="GARD:1555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93333"}
subset: ordo_malformation_syndrome {source="Orphanet:93333"}
subset: orphanet_rare {source="Orphanet:93333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COUSIN syndrome" RELATED [OMIM:260660]
synonym: "Cousin syndrome" EXACT [Orphanet:93333]
synonym: "craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature" RELATED [GARD:0001555]
synonym: "craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature" RELATED [OMIM:260660]
synonym: "familial pelvis-scapular dysplasia" EXACT [Orphanet:93333]
synonym: "pelviscapular dysplasia" EXACT [OMIM:260660]
xref: GARD:1555 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:93333/attributed", source="Orphanet:93333/ntbt", source="Orphanet:93333"}
xref: MEDGEN:342400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535550 {source="Orphanet:93333", source="MONDO:equivalentTo", source="Orphanet:93333/e"}
xref: OMIM:260660 {source="Orphanet:93333", source="MONDO:equivalentTo", source="Orphanet:93333/e"}
xref: Orphanet:93333 {source="MONDO:equivalentTo", source="OMIM:260660"}
xref: SCTID:719299009 {source="MONDO:equivalentTo"}
xref: UMLS:C1850040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342400"}
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11594 {source="MONDO:mim2gene_medgen"} ! TBX15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009846
name: pentosuria
def: "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." [Orphanet:2843]
subset: gard_rare {source="GARD:418", source="MONDO:GARD"}
subset: mostly_harmless {source="PMID:29884839"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2843"}
subset: orphanet_rare {source="Orphanet:2843"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "essential pentosuria" EXACT [Orphanet:2843]
synonym: "L-xylulose reductase deficiency" RELATED [OMIM:260800]
synonym: "L-Xylulosuria" RELATED [OMIM:260800]
synonym: "pentosuria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:260800, OMIM:genemap2]
synonym: "PNTSU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260800]
synonym: "xylitol dehydrogenase deficiency" EXACT [OMIM:260800, Orphanet:2843]
xref: DOID:0111258 {source="MONDO:equivalentTo"}
xref: GARD:418 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:2843/inclusion", source="Orphanet:2843", source="Orphanet:2843/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10064170 {source="Orphanet:2843", source="Orphanet:2843/e"}
xref: MEDGEN:78646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536652 {source="MONDO:equivalentTo", source="Orphanet:2843", source="Orphanet:2843/e"}
xref: OMIM:260800 {source="MONDO:equivalentTo", source="Orphanet:2843", source="Orphanet:2843/e"}
xref: Orphanet:2843 {source="OMIM:260800", source="MONDO:equivalentTo"}
xref: SCTID:190764000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268162 {source="MEDGEN:78646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018605 {source="Orphanet:2843"} ! disorders of pentose/polyol metabolism
is_a: MONDO:0019231 {source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18985 {source="MONDO:mim2gene_medgen"} ! DCXR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/418/pentosuria" xsd:anyURI {source="GARD:0000418"}

[Term]
id: MONDO:0009847
name: pericardial effusion, chronic
def: "Chronic form of pericardial effusion (disease)." [MONDO:patterns/chronic]
synonym: "cholesterol pericarditis" RELATED [OMIM:260900]
synonym: "chronic pericardial effusion (disease)" EXACT []
synonym: "pericardial effusion (disease), chronic" EXACT [MONDO:patterns/chronic]
synonym: "pericardial effusion, chronic" EXACT [OMIM:260900]
xref: MEDGEN:342399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564895 {source="MONDO:equivalentTo"}
xref: OMIM:260900 {source="MONDO:equivalentTo"}
xref: UMLS:C1850039 {source="MEDGEN:342399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0001370 ! pericardial effusion
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0009848
name: dissecting cellulitis of the scalp
def: "Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia." [Orphanet:345]
subset: gard_rare {source="GARD:1883", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:345"}
subset: orphanet_rare {source="Orphanet:345"}
subset: rare
synonym: "dissecting cellulitis of the scalp" EXACT [OMIM:260910]
synonym: "perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial" RELATED [OMIM:260910]
xref: GARD:1883 {source="MONDO:GARD"}
xref: ICD10CM:L08.8 {source="Orphanet:345", source="Orphanet:345/ntbt"}
xref: icd11.foundation:872245808 {source="Orphanet:345", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056961 {source="Orphanet:345", source="Orphanet:345/e"}
xref: MEDGEN:78097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562486 {source="MONDO:equivalentTo"}
xref: OMIM:260910 {source="Orphanet:345", source="MONDO:equivalentTo", source="Orphanet:345/e"}
xref: Orphanet:345 {source="OMIM:260910", source="MONDO:equivalentTo"}
xref: SCTID:77333008 {source="MONDO:equivalentTo"}
xref: UMLS:C0263506 {source="MONDO:equivalentTo", source="MEDGEN:78097", source="MONDO:MEDGEN"}
is_a: MONDO:0019296 {source="Orphanet:345"} ! subcutaneous tissue disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp" xsd:anyURI {source="GARD:0001883"}

[Term]
id: MONDO:0009849
name: hyperimmunoglobulinemia D with periodic fever
def: "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." [Orphanet:343]
subset: gard_rare {source="GARD:2788", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:343"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HIDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:260920, Orphanet:343]
synonym: "hyper IgD syndrome" RELATED [GARD:0002788]
synonym: "hyper-IgD syndrome" EXACT [MONDO:Lexical, OMIM:260920, Orphanet:343]
synonym: "hyperimmunoglobinemia D with recurrent fever" EXACT [Orphanet:343]
synonym: "hyperimmunoglobulinemia D and periodic fever syndrome" RELATED [OMIM:260920]
synonym: "hyperimmunoglobulinemia D syndrome" EXACT [Orphanet:343]
synonym: "partial mevalonate kinase deficiency" EXACT [Orphanet:343]
synonym: "periodic fever Dutch type" RELATED [GARD:0002788]
synonym: "periodic fever, Dutch type" RELATED [OMIM:260920]
xref: DOID:0081450 {source="MONDO:equivalentTo"}
xref: GARD:2788 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:343/attributed", source="Orphanet:343/ntbt", source="Orphanet:343"}
xref: MEDGEN:140768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200866 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200436 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:260920 {source="Orphanet:343/e", source="MONDO:equivalentTo", source="Orphanet:343"}
xref: Orphanet:343 {source="OMIM:260920", source="MONDO:equivalentTo"}
xref: UMLS:C0398691 {source="MEDGEN:140768", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0017708 {source="Orphanet:343"} ! mevalonate kinase deficiency
is_a: MONDO:0019751 {source="Orphanet:343/inferred", source="PMID:23827249", source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7530 {source="MONDO:mim2gene_medgen"} ! MVK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0009850
name: periodontitis, chronic, adult
synonym: "periodontitis, adult" BROAD [OMIM:260950]
synonym: "periodontitis, chronic" BROAD [OMIM:260950]
xref: MEDGEN:120593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:260950 {source="MONDO:equivalentTo"}
xref: SCTID:74797001 {source="MONDO:equivalentTo"}
xref: UMLS:C0266929 {source="MEDGEN:120593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005593 ! chronic periodontitis

[Term]
id: MONDO:0009851
name: peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain
synonym: "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" EXACT [OMIM:260970]
xref: MEDGEN:342395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564894 {source="MONDO:equivalentTo"}
xref: OMIM:260970 {source="MONDO:equivalentTo"}
xref: UMLS:C1850022 {source="MEDGEN:342395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564894/inferred"} ! hereditary disease

[Term]
id: MONDO:0009852
name: hereditary intrinsic factor deficiency
def: "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." [Orphanet:332]
subset: gard_rare {source="GARD:3024", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:332"}
subset: orphanet_rare {source="Orphanet:332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital intrinsic factor deficiency" EXACT [Orphanet:332]
synonym: "congenital pernicious anaemia" EXACT OMO:0003005 []
synonym: "congenital pernicious anaemia due to defect of intrinsic factor" RELATED OMO:0003005 []
synonym: "congenital pernicious anemia" EXACT [Orphanet:332]
synonym: "congenital pernicious anemia due to defect of intrinsic factor" RELATED [GARD:0003024]
synonym: "gastric intrinsic factor deficiency" EXACT [Orphanet:332]
synonym: "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency" EXACT OMO:0003005 []
synonym: "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency" EXACT [Orphanet:332]
synonym: "IFD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261000, Orphanet:332]
synonym: "intrinsic factor deficiency" BROAD [MONDO:Lexical, OMIM:261000, Orphanet:332]
synonym: "intrinsic factor, congenital deficiency of" RELATED [GARD:0003024]
synonym: "pernicious Anemia, congenital, due to defect of intrinsic Factor" RELATED [OMIM:261000]
xref: DOID:0050734 {source="MONDO:equivalentTo"}
xref: GARD:3024 {source="MONDO:GARD"}
xref: ICD10CM:D51.0 {source="Orphanet:332/attributed", source="Orphanet:332/ntbt", source="Orphanet:332"}
xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10070440 {source="Orphanet:332/e", source="Orphanet:332"}
xref: MEDGEN:235598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563242 {source="MONDO:equivalentTo"}
xref: OMIM:261000 {source="Orphanet:332/e", source="MONDO:equivalentTo", source="DOID:0050734", source="Orphanet:332"}
xref: Orphanet:332 {source="MONDO:equivalentTo", source="OMIM:261000"}
xref: SCTID:34925000 {source="MONDO:relatedTo"}
xref: SCTID:60504009 {source="MONDO:equivalentTo"}
xref: UMLS:C1394891 {source="MEDGEN:235598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000424 {source="DOID:0050734", source="MESH:C563242/inferred", source="MONDO:Redundant"} ! inborn vitamin B12 deficiency
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0019220 {source="Orphanet:332"} ! inborn disorder of cobalamin metabolism and transport
relationship: disease_has_feature HP:0001889 ! Megaloblastic anemia
relationship: disease_has_feature HP:0100502 ! Decreased circulating vitamin B12 concentration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4268 {source="MONDO:mim2gene_medgen"} ! CBLIF

[Term]
id: MONDO:0009853
name: Imerslund-Grasbeck syndrome
def: "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." [Orphanet:35858]
subset: gard_rare {source="GARD:7006", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35858"}
subset: orphanet_rare {source="Orphanet:35858"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "defect of enterocyte intrinsic factor receptor" RELATED [GARD:0007006]
synonym: "enterocyte cobalamin malabsorption" RELATED [OMIM:261100]
synonym: "familial megaloblastic anaemia" EXACT OMO:0003005 []
synonym: "familial megaloblastic anemia" EXACT [Orphanet:35858]
synonym: "Gräsbeck-Imerslund disease" RELATED [Orphanet:35858]
synonym: "Imerslund-Grasbeck syndrome" EXACT [OMIM:261100]
synonym: "Imerslund-Gräsbeck syndrome" EXACT [NCIT:C131677]
synonym: "juvenile megaloblastic Anaemia" EXACT OMO:0003005 []
synonym: "juvenile megaloblastic Anemia" EXACT [NCIT:C131677]
synonym: "selective cobalamin malabsorption with proteinuria" EXACT [Orphanet:35858]
xref: GARD:7006 {source="MONDO:GARD"}
xref: ICD10CM:D51.1 {source="Orphanet:35858/attributed", source="Orphanet:35858/ntbt", source="Orphanet:35858"}
xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1640347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538556 {source="MONDO:equivalentTo"}
xref: OMIMPS:261100 {source="Orphanet:35858", source="MONDO:equivalentTo", source="Orphanet:35858/e"}
xref: Orphanet:35858 {source="MONDO:equivalentTo", source="OMIM:261100"}
xref: SCTID:360495000 {source="MONDO:equivalentTo"}
xref: UMLS:C4551825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640347"}
is_a: MONDO:0001700 {source="DC-OMIM:261100", source="NCIT:C131677"} ! megaloblastic anemia
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-3458-4839"} ! syndromic disease
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0019220 {source="Orphanet:35858"} ! inborn disorder of cobalamin metabolism and transport
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:35858", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:261100"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0009854
name: peroneus tertius muscle, absence of
synonym: "peroneus tertius muscle, absence of" EXACT [OMIM:261400]
xref: MEDGEN:376684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:261400 {source="MONDO:equivalentTo"}
xref: UMLS:C1850001 {source="MEDGEN:376684", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009855
name: d-bifunctional protein deficiency
def: "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." [https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4539", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300"}
subset: orphanet_rare {source="Orphanet:300"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17-beta-hydroxysteroid dehydrogenase 4 deficiency" RELATED [OMIM:261515]
synonym: "17-beta-hydroxysteroid dehydrogenase IV deficiency" RELATED [GARD:0004539]
synonym: "bifunctional enzyme deficiency" RELATED [GARD:0004539]
synonym: "D-bifunctional enzyme deficiency" EXACT [NCIT:C119676]
synonym: "d-bifunctional protein deficiency" EXACT CLINGEN_LABEL [OMIM:261515]
synonym: "DBP deficiency" RELATED [OMIM:261515]
synonym: "HSD17B4 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "multifunctional enzyme deficiency" EXACT [NCIT:C119676]
synonym: "Pbfe deficiency" RELATED [OMIM:261515]
synonym: "peroxisomal bifunctional enzyme deficiency" RELATED [OMIM:261515]
synonym: "peroxisomal multifunctional enzyme (MFE2) deficiency" EXACT [NCIT:C119676]
synonym: "peroxisomal multifunctional enzyme deficiency" EXACT [NCIT:C119676]
synonym: "pseudo-Zellweger syndrome" EXACT [NCIT:C119676]
xref: DOID:0090031 {source="MONDO:equivalentTo"}
xref: GARD:4539 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="DOID:0090031", source="Orphanet:300/attributed", source="Orphanet:300/ntbt", source="Orphanet:300"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536663 {source="Orphanet:300/e", source="Orphanet:300"}
xref: NANDO:1200766 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119676 {source="MONDO:equivalentTo"}
xref: OMIM:261515 {source="DOID:0090031", source="Orphanet:300/e", source="MONDO:equivalentTo", source="Orphanet:300"}
xref: Orphanet:300 {source="OMIM:261515", source="DOID:0090031", source="MONDO:equivalentTo"}
xref: SCTID:238068007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342870 {source="MEDGEN:137982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019233 {source="Orphanet:300", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5213 {source="MONDO:mim2gene_medgen"} ! HSD17B4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency" xsd:anyURI {source="GARD:0004539"}

[Term]
id: MONDO:0009856
name: Peters plus syndrome
def: "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." [Orphanet:709]
subset: gard_rare {source="GARD:8422", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:709"}
subset: ordo_malformation_syndrome {source="Orphanet:709"}
subset: orphanet_rare {source="Orphanet:709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Krause-Kivlin syndrome" EXACT [DOID:0080201, OMIM:261540, Orphanet:709]
synonym: "Krause-van Schooneveld-Kivlin syndrome" EXACT [Orphanet:709]
synonym: "Peters anomaly with short limb dwarfism" EXACT [Orphanet:709]
synonym: "Peters anomaly with short-limb dwarfism" RELATED [OMIM:261540]
synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT [DOID:0080201]
synonym: "Peters-plus syndrome" EXACT [DOID:0080201, OMIM:261540]
xref: DOID:0070312 {source="MONDO:equivalentObsolete"}
xref: DOID:0080201 {source="MONDO:equivalentTo"}
xref: GARD:8422 {source="MONDO:GARD"}
xref: ICD10CM:Q13.4 {source="Orphanet:709/attributed", source="Orphanet:709/ntbt", source="Orphanet:709"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537617 {source="MONDO:equivalentTo"}
xref: NCIT:C123436 {source="MONDO:equivalentTo"}
xref: OMIM:261540 {source="Orphanet:709/e", source="MONDO:equivalentTo", source="DOID:0070312", source="Orphanet:709"}
xref: Orphanet:709 {source="MONDO:equivalentTo", source="OMIM:261540"}
xref: SCTID:449817000 {source="MONDO:equivalentTo"}
xref: UMLS:C0796012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163204"}
is_a: MONDO:0002254 {source="DOID:0070312", source="DOID:0080201", source="MONDO:Redundant", source="NCIT:C123436"} ! syndromic disease
is_a: MONDO:0005267 {source="MONDO:0018290-obsoleted"} ! heart disorder
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0015159 {source="Orphanet:709"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017747 {source="Orphanet:709"} ! disorder of fucoglycosan synthesis
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20207 {source="MONDO:mim2gene_medgen"} ! B3GLCT
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome" xsd:anyURI {source="GARD:0008422"}

[Term]
id: MONDO:0009857
name: persistent Mullerian duct syndrome
def: "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." [Orphanet:2856]
subset: gard_rare {source="GARD:8435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2856"}
subset: ordo_malformation_syndrome {source="Orphanet:2856"}
subset: orphanet_rare {source="Orphanet:2856"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "female genital ducts in otherwise normal Male" RELATED [OMIM:261550]
synonym: "female genital ducts in otherwise normal male" RELATED [GARD:0008435]
synonym: "hernia uteri inguinale" RELATED [OMIM:261550]
synonym: "persistent Muellerian duct syndrome" EXACT [DOID:0050791]
synonym: "persistent Mullerian derivatives" EXACT [Orphanet:2856]
synonym: "persistent Mullerian duct syndrome" EXACT CLINGEN_LABEL []
synonym: "persistent mullerian duct syndrome, type I" EXACT [OMIM:261550, OMIM:genemap2]
synonym: "persistent mullerian duct syndrome, type II" EXACT [OMIM:261550, OMIM:genemap2]
synonym: "persistent mullerian duct syndrome, types 1 and 2" RELATED [GARD:0008435]
synonym: "persistent MULLERIAN duct syndrome, types I and II" RELATED [MONDO:Lexical, OMIM:261550]
synonym: "persistent Müllerian derivatives" EXACT [Orphanet:2856]
synonym: "persistent Müllerian duct syndrome" RELATED [Orphanet:2856]
synonym: "persistent oviduct syndrome" RELATED [OMIM:261550]
synonym: "PMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261550, Orphanet:2856]
synonym: "pseudohermaphroditism, Male internal" RELATED [OMIM:261550]
xref: DOID:0050791 {source="MONDO:equivalentTo"}
xref: GARD:8435 {source="MONDO:GARD"}
xref: ICD10CM:Q55.8 {source="Orphanet:2856", source="Orphanet:2856/attributed", source="Orphanet:2856/ntbt"}
xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:342367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536665 {source="MONDO:equivalentTo", source="Orphanet:2856", source="DOID:0050791", source="Orphanet:2856/e"}
xref: NCIT:C120188 {source="MONDO:equivalentTo", source="DOID:0050791"}
xref: OMIM:261550 {source="MONDO:equivalentTo", source="Orphanet:2856", source="DOID:0050791", source="Orphanet:2856/e"}
xref: Orphanet:2856 {source="MONDO:equivalentTo", source="OMIM:261550"}
xref: SCTID:702358005 {source="MONDO:equivalentTo", source="DOID:0050791"}
xref: UMLS:C1849930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342367"}
is_a: MONDO:0005518 {source="DOID:0050791"} ! pseudohermaphroditism
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome" xsd:anyURI {source="GARD:0008435"}

[Term]
id: MONDO:0009858
name: Pfeiffer-Palm-Teller syndrome
def: "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." [Orphanet:2871]
subset: gard_rare {source="GARD:4305", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2871"}
subset: ordo_malformation_syndrome {source="Orphanet:2871"}
subset: orphanet_rare {source="Orphanet:2871"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pfeiffer Palm Teller syndrome" RELATED [GARD:0004305]
synonym: "Pfeiffer-Palm-Teller syndrome" EXACT [OMIM:261560]
synonym: "PPT syndrome" RELATED [OMIM:261560]
synonym: "short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice" RELATED [GARD:0004305]
synonym: "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice" RELATED [OMIM:261560]
xref: GARD:4305 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2871/attributed", source="Orphanet:2871/ntbt", source="Orphanet:2871"}
xref: MEDGEN:342366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537889 {source="Orphanet:2871", source="MONDO:equivalentTo", source="Orphanet:2871/e"}
xref: OMIM:261560 {source="Orphanet:2871", source="MONDO:equivalentTo", source="Orphanet:2871/e"}
xref: Orphanet:2871 {source="MONDO:equivalentTo", source="OMIM:261560"}
xref: SCTID:726672000 {source="MONDO:equivalentTo"}
xref: UMLS:C1849929 {source="MEDGEN:342366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2871"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2871", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome" xsd:anyURI {source="GARD:0004305"}

[Term]
id: MONDO:0009859
name: PHAVER syndrome
def: "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." [Orphanet:2876]
subset: gard_rare {source="GARD:4465", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2876"}
subset: ordo_malformation_syndrome {source="Orphanet:2876"}
subset: orphanet_rare {source="Orphanet:2876"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHAVER syndrome" EXACT [OMIM:261575]
synonym: "Powell-Chandra-Saal syndrome" EXACT [Orphanet:2876]
synonym: "pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects" RELATED [GARD:0004465]
xref: GARD:4465 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2876", source="Orphanet:2876/attributed", source="Orphanet:2876/ntbt"}
xref: MEDGEN:376670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538357 {source="MONDO:equivalentTo"}
xref: OMIM:261575 {source="MONDO:equivalentTo", source="Orphanet:2876", source="Orphanet:2876/e"}
xref: Orphanet:2876 {source="MONDO:equivalentTo", source="OMIM:261575"}
xref: SCTID:723453002 {source="MONDO:equivalentTo"}
xref: UMLS:C1849928 {source="MEDGEN:376670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2876"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2876", source="Orphanet:2876/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome" xsd:anyURI {source="GARD:0004465"}

[Term]
id: MONDO:0009860
name: phenformin 4-hydroxylation
synonym: "phenformin 4-hydroxylation" EXACT [OMIM:261590]
xref: MEDGEN:342365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:261590 {source="MONDO:equivalentTo"}
xref: UMLS:C1849927 {source="MONDO:equivalentTo", source="MEDGEN:342365", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009861
name: phenylketonuria
def: "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." [Orphanet:716]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7383", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1574"}
subset: ordo_disorder {source="Orphanet:716"}
subset: orphanet_rare {source="Orphanet:716"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Folling disease" RELATED EXCLUDE [OMIM:261600]
synonym: "Folling's disease" RELATED EXCLUDE [DOID:9281]
synonym: "Folling's syndrome" RELATED EXCLUDE []
synonym: "Følling's disease" RELATED EXCLUDE [DOID:9281]
synonym: "HPA, non-PKU mild" RELATED [OMIM:261600]
synonym: "hyperphenylalaninemia, non-PKU mild" EXACT [OMIM:261600, OMIM:genemap2]
synonym: "imbecilitus phenylpyruvica" RELATED []
synonym: "maternal phenylketonuria" RELATED EXCLUDE [DOID:9281]
synonym: "oligophrenia Phenylpyruvica" RELATED [OMIM:261600]
synonym: "oligophrenia phenylpyruvica" RELATED []
synonym: "PAH deficiency" EXACT [OMIM:261600, Orphanet:716]
synonym: "phenylalanine hydroxylase deficiency" EXACT [OMIM:261600, Orphanet:716]
synonym: "phenylalaninemia" EXACT [DOID:9281]
synonym: "phenylketonuria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:261600]
synonym: "phenylketonuria, maternal" RELATED [OMIM:261600]
synonym: "phenylpyruvic oligophrenia" RELATED []
synonym: "PKU" EXACT ABBREVIATION [DOID:9281, MONDO:Lexical, OMIM:261600, Orphanet:716]
xref: DOID:9281 {source="MONDO:equivalentTo"}
xref: GARD:7383 {source="MONDO:GARD"}
xref: ICD10CM:E70.0 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"}
xref: ICD10CM:E70.1 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"}
xref: icd11.foundation:444122923 {source="MONDO:equivalentTo", source="Orphanet:716"}
xref: ICD9:270.1 {source="DOID:9281"}
xref: MedDRA:10034872 {source="Orphanet:716", source="Orphanet:716/e"}
xref: MEDGEN:19244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010661 {source="DOID:9281", source="MONDO:equivalentTo", source="Orphanet:716", source="Orphanet:716/e"}
xref: MESH:D017042 {source="DOID:9281"}
xref: NANDO:1200784 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200785 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200467 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201075 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C81315 {source="DOID:9281", source="MONDO:equivalentTo"}
xref: NORD:1574 {source="MONDO:NORD"}
xref: OMIM:261600 {source="DOID:9281", source="MONDO:equivalentTo", source="Orphanet:716", source="Orphanet:716/e"}
xref: Orphanet:2209 {source="OMIM:261600"}
xref: Orphanet:716 {source="OMIM:261600", source="MONDO:equivalentTo"}
xref: SCTID:154735006 {source="DOID:9281"}
xref: SCTID:190687004 {source="DOID:9281"}
xref: SCTID:297225000 {source="DOID:9281"}
xref: SCTID:7573000 {source="MONDO:equivalentTo"}
xref: UMLS:C0031485 {source="MEDGEN:19244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004736 {source="DOID:9281", source="MESH:D010661", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0017306 {source="Orphanet:716", source="PMID:33340416"} ! disorder of phenylalanine metabolism
is_a: MONDO:0019052 {source="DOID:9281/inferred", source="MESH:D010661/inferred", source="NCIT:C81315/inferred", source="Orphanet:716/inferred"} ! inborn errors of metabolism
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:261600", source="Orphanet:716"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8582 {source="MONDO:mim2gene_medgen"} ! PAH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009862
name: dihydropteridine reductase deficiency
def: "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." [Orphanet:226]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:226"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "6,7-dihydropteridine reductase activity disease" EXACT [MONDO:design_pattern]
synonym: "DHPR deficiency" RELATED [OMIM:261630]
synonym: "dihydropteridine reductase deficiency" EXACT CLINGEN_LABEL [OMIM:261630]
synonym: "disorder of 6,7-dihydropteridine reductase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "HPABH4C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:261630]
synonym: "hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT [Orphanet:226]
synonym: "hyperphenylalaninemia, BH-4-deficient, C" RELATED [GARD:0004319]
synonym: "hyperphenylalaninemia, BH4-deficient C" EXACT [NCIT:C138173]
synonym: "hyperphenylalaninemia, BH4-deficient, C" RELATED [MONDO:Lexical, OMIM:261630]
synonym: "hyperphenylalaninemia, Bh4-deficient, type C" EXACT [MONDORULE:1, OMIM:261630]
synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency" RELATED [OMIM:261630]
synonym: "phenylketonuria type 2" EXACT [Orphanet:226]
synonym: "PKU type 2" EXACT [Orphanet:226]
synonym: "Qdpr deficiency" RELATED [OMIM:261630]
synonym: "quinoid dihydropteridine reductase deficiency" RELATED [OMIM:261630]
xref: DOID:0081130 {source="MONDO:equivalentTo"}
xref: GARD:4319 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:226/attributed", source="Orphanet:226/ntbt", source="Orphanet:226"}
xref: MEDGEN:75682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537896 {source="Orphanet:226", source="Orphanet:226/e"}
xref: NCIT:C138173 {source="MONDO:equivalentTo"}
xref: OMIM:261630 {source="Orphanet:226", source="MONDO:equivalentTo", source="Orphanet:226/e"}
xref: Orphanet:226 {source="MONDO:equivalentTo", source="OMIM:261630"}
xref: Orphanet:238583 {source="OMIM:261630"}
xref: SCTID:58256000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75682"}
is_a: MONDO:0016543 {source="DC-OMIM:261630", source="Orphanet:226"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0004155 ! 6,7-dihydropteridine reductase activity
relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process
relationship: disease_shares_features_of MONDO:0009861 {source="MONDO:Redundant", source="NCIT:C138173", source="OMIM:261630"} ! phenylketonuria
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:261630", source="Orphanet:226"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9752 {source="MONDO:mim2gene_medgen"} ! QDPR
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency" xsd:anyURI {source="GARD:0004319"}

[Term]
id: MONDO:0009863
name: BH4-deficient hyperphenylalaninemia A
def: "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." [NCIT:C138171]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:13"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "6-pyruvoyl tetrahydropterin synthase deficiency" EXACT [NCIT:C138171]
synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [DOID:0090106]
synonym: "BH4-deficient hyperphenylalaninemia A" EXACT CLINGEN_LABEL []
synonym: "Bh4-deficient hyperphenylalaninemia type A" EXACT [DOID:0090106, MONDORULE:1]
synonym: "HPABH4A" EXACT ABBREVIATION [DOID:0090106, MONDO:Lexical, OMIM:261640]
synonym: "hyperphenylalanemia, BH4-deficient, A" RELATED [GARD:0005682]
synonym: "hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency" RELATED [GARD:0005682]
synonym: "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT [DOID:0090106, Orphanet:13]
synonym: "hyperphenylalaninemia, BH4-deficient A" EXACT [NCIT:C138171]
synonym: "hyperphenylalaninemia, BH4-deficient, A" RELATED [MESH:C535325, MONDO:Lexical, OMIM:261640]
synonym: "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency" RELATED [OMIM:261640]
synonym: "hyperphenylalaninemia, BH4-deficient, type A" RELATED [MESH:C535325]
synonym: "hyperphenylalaninemia, Bh4-deficient, type a" EXACT [MONDORULE:1, OMIM:261640]
synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency" RELATED [MESH:C535325, OMIM:261640]
synonym: "PTS deficiency" EXACT [DOID:0090106, MESH:C535325, OMIM:261640]
synonym: "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included" RELATED [MESH:C535325]
synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT [DOID:0090106]
xref: DOID:0090106 {source="MONDO:equivalentTo"}
xref: GARD:5682 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:13/attributed", source="Orphanet:13/ntbt", source="Orphanet:13", source="DOID:0090106"}
xref: MEDGEN:209234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535325 {source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="Orphanet:13/e"}
xref: NCIT:C138171 {source="MONDO:equivalentTo"}
xref: OMIM:261640 {source="Orphanet:13", source="MONDO:equivalentTo", source="DOID:0090106", source="Orphanet:13/e", source="MEDIC:C535325"}
xref: Orphanet:13 {source="MONDO:equivalentTo", source="DOID:0090106", source="OMIM:261640"}
xref: Orphanet:238583 {source="OMIM:261640"}
xref: SCTID:237914002 {source="MONDO:equivalentTo"}
xref: UMLS:C0878676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209234"}
is_a: MONDO:0016543 {source="DC-OMIM:261640", source="Orphanet:13"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency
relationship: disease_shares_features_of MONDO:0009861 {source="MESH:C535325", source="MONDO:Redundant", source="NCIT:C138171"} ! phenylketonuria
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:261640", source="Orphanet:13"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9689 {source="MONDO:mim2gene_medgen"} ! PTS

[Term]
id: MONDO:0009864
name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial
subset: gard_rare {source="GARD:4279", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCK2 deficiency" RELATED [OMIM:261650]
synonym: "PCKDM" RELATED ABBREVIATION [OMIM:261650]
synonym: "PEPCK 2 deficiency" RELATED [GARD:0004279]
synonym: "PEPCK deficiency, mitochondrial" EXACT [OMIM:261650, OMIM:genemap2]
synonym: "PEPCK2" RELATED ABBREVIATION [GARD:0004279]
synonym: "PEPCK2 deficiency" RELATED [OMIM:261650]
synonym: "phosphoenolpyruvate carboxykinase 2 deficiency" RELATED [GARD:0004279]
synonym: "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" EXACT [OMIM:261650]
xref: GARD:4279 {source="MONDO:GARD"}
xref: MEDGEN:376665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564890 {source="MONDO:equivalentTo"}
xref: OMIM:261650 {source="MONDO:equivalentTo"}
xref: Orphanet:2880 {source="OMIM:261650"}
xref: Orphanet:79317 {source="MONDO:equivalentObsolete", source="OMIM:261650"}
xref: UMLS:C1849821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376665"}
is_a: MONDO:0017320 {source="Orphanet:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8725 {source="MONDO:mim2gene_medgen"} ! PCK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009865
name: glycogen storage disease due to phosphoglycerate mutase deficiency
def: "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy." [NCIT:C131647]
subset: gard_rare {source="GARD:9964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97234"}
subset: orphanet_rare {source="Orphanet:97234"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease 10" RELATED [OMIM:261670]
synonym: "glycogen storage disease caused by mutation in PGAM2" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease type 10" EXACT [MONDORULE:2, OMIM:261670]
synonym: "glycogen storage disease X" RELATED [MONDO:Lexical, OMIM:261670]
synonym: "glycogenosis due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234]
synonym: "GSD 10" RELATED [OMIM:261670]
synonym: "GSD due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234]
synonym: "GSD type 10" EXACT [Orphanet:97234]
synonym: "GSD10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:261670]
synonym: "GSDX" RELATED ABBREVIATION [GARD:0009964]
synonym: "muscle phosphoglycerate mutase deficiency" EXACT [Orphanet:97234]
synonym: "myopathy due to Phosphoglycerate mutase deficiency" RELATED [OMIM:261670]
synonym: "myopathy due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234]
synonym: "PGAM deficiency" RELATED [GARD:0009964]
synonym: "PGAM2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PGAMM deficiency" RELATED [OMIM:261670]
synonym: "Phosphoglycerate mutase deficiency" RELATED [GARD:0009964]
synonym: "Phosphoglycerate mutase, muscle, deficiency of" RELATED [OMIM:261670]
xref: GARD:9964 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:97234", source="Orphanet:97234/attributed", source="Orphanet:97234/ntbt"}
xref: MEDGEN:120613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536176 {source="MONDO:equivalentTo"}
xref: NANDO:1200832 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131647 {source="MONDO:equivalentTo"}
xref: OMIM:261670 {source="Orphanet:97234", source="MONDO:equivalentTo", source="Orphanet:97234/e"}
xref: Orphanet:97234 {source="MONDO:equivalentTo", source="OMIM:261670"}
xref: SCTID:61772003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120613"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="NCIT:C131647", source="Orphanet:97234"} ! disorder of glycogen metabolism
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8889 ! PGAM2
relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:97234", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8889 {source="MONDO:mim2gene_medgen"} ! PGAM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009866
name: phosphoenolpyruvate carboxykinase deficiency, cytosolic
def: "PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2)." [GARD:0004278]
subset: gard_rare {source="GARD:4278", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCK1 deficiency, cytosolic" RELATED [OMIM:261680]
synonym: "PCKDC" RELATED ABBREVIATION [OMIM:261680]
synonym: "PEP carboxykinase deficiency" RELATED [GARD:0004278]
synonym: "PEPCK 1 deficiency" RELATED [GARD:0004278]
synonym: "PEPCK deficiency, cytosolic" RELATED [OMIM:261680]
synonym: "PEPCK1 deficiency" RELATED []
synonym: "phosphoenolpyruvate carboxykinase deficiency" RELATED [GARD:0004278]
synonym: "phosphoenolpyruvate carboxykinase deficiency, cytosolic" EXACT [OMIM:261680]
synonym: "phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency" RELATED [GARD:0004278]
synonym: "phosphoenolpyruvate carboxylase deficiency" RELATED [GARD:0004278]
synonym: "phosphopyruvate carboxylase deficiency" RELATED [GARD:0004278]
xref: GARD:4278 {source="MONDO:GARD"}
xref: MEDGEN:1801754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:261680 {source="GARD:0004278", source="MONDO:equivalentTo"}
xref: Orphanet:2880 {source="OMIM:261680"}
xref: Orphanet:79316 {source="MONDO:equivalentObsolete", source="OMIM:261680"}
xref: UMLS:C5574905 {source="MEDGEN:1801754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017320 {source="Orphanet:2880/btnt"} ! phosphoenolpyruvate carboxykinase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8724 {source="MONDO:mim2gene_medgen"} ! PCK1

[Term]
id: MONDO:0009867
name: lethal congenital glycogen storage disease of heart
def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10728", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439854"}
subset: orphanet_rare {source="Orphanet:439854"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" RELATED [Orphanet:439854]
synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [DOID:0090101, Orphanet:439854]
synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT [DOID:0090101, Orphanet:439854]
synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT [DOID:0090101]
synonym: "glycogen storage disease caused by mutation in PRKAG2" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease of heart" RELATED [OMIM:261740]
synonym: "glycogen storage disease of heart, lethal congenital" RELATED [OMIM:261740]
synonym: "phosphorylase kinase deficiency of heart" EXACT [DOID:0090101, OMIM:261740]
synonym: "PRKAG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090101 {source="MONDO:equivalentTo"}
xref: GARD:10728 {source="MONDO:GARD"}
xref: ICD10EXP:E74.0+ {source="DOID:0090101", source="Orphanet:439854/attributed", source="Orphanet:439854/ntbt", source="Orphanet:439854"}
xref: ICD10EXP:G73.6* {source="DOID:0090101", source="Orphanet:439854/attributed", source="Orphanet:439854/ntbt", source="Orphanet:439854"}
xref: MEDGEN:337919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564888 {source="MONDO:equivalentTo"}
xref: OMIM:261740 {source="Orphanet:439854/e", source="MONDO:equivalentTo", source="DOID:0090101", source="Orphanet:439854"}
xref: Orphanet:439854 {source="MONDO:equivalentTo", source="DOID:0090101"}
xref: UMLS:C1849813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337919"}
is_a: MONDO:0002412 {source="DC-OMIM:261740", source="DOID:0090101", source="DOID:0090101/inferred", source="MESH:C564888", source="MONDO:Redundant", source="Orphanet:439854", source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0800484 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2-related cardiomyopathy
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 ! PRKAG2
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="MONDO:mim2gene_medgen"} ! PRKAG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6446" xsd:anyURI

[Term]
id: MONDO:0009868
name: glycogen storage disease IXb
def: "A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation." [https://clinicalgenome.org/affiliation/40097/]
subset: gard_rare {source="GARD:16711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79240"}
subset: orphanet_rare {source="Orphanet:79240"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease 9B" EXACT [https://clinicalgenome.org/affiliation/40097/]
synonym: "glycogen storage disease caused by mutation in PHKB" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" RELATED [Orphanet:79240]
synonym: "glycogen storage disease IXb" EXACT [MONDO:Lexical, OMIM:261750]
synonym: "glycogen storage disease type 9B" EXACT [DOID:0111041, Orphanet:79240]
synonym: "glycogen storage disease type IXb" EXACT [DOID:0111041, MONDORULE:5, OMIM:261750, Orphanet:79240]
synonym: "glycogenosis due to liver and muscle phosphorylase kinase deficiency" EXACT [DOID:0111041, Orphanet:79240]
synonym: "glycogenosis of liver and muscle, autosomal recessive" RELATED [OMIM:261750]
synonym: "glycogenosis type 9B" EXACT [DOID:0111041, Orphanet:79240]
synonym: "glycogenosis type IXb" EXACT [DOID:0111041, Orphanet:79240]
synonym: "GSD due to liver and muscle phosphorylase kinase deficiency" EXACT [DOID:0111041, Orphanet:79240]
synonym: "GSD IXb" EXACT [DOID:0111041, https://www.ncbi.nlm.nih.gov/books/NBK55061/, OMIM:261750]
synonym: "GSD type 9B" EXACT [DOID:0111041, Orphanet:79240]
synonym: "GSD type IXb" EXACT [DOID:0111041, Orphanet:79240]
synonym: "GSD9B" EXACT ABBREVIATION [DOID:0111041, MONDO:Lexical, OMIM:261750]
synonym: "PHKB glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHKB-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" RELATED [OMIM:261750]
xref: DOID:0111041 {source="MONDO:equivalentTo"}
xref: GARD:16711 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="DOID:0111041", source="Orphanet:79240", source="Orphanet:79240/attributed", source="Orphanet:79240/ntbt"}
xref: MEDGEN:107772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563008 {source="MONDO:equivalentTo"}
xref: NANDO:1200848 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201165 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:261750 {source="DOID:0111041", source="MONDO:equivalentTo", source="Orphanet:79240", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:79240/e"}
xref: Orphanet:79240 {source="DOID:0111041", source="MONDO:equivalentTo", source="OMIM:261750"}
xref: UMLS:C0543514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107772"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0005066 {source="Orphanet:79240"} ! metabolic disease
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8927 ! PHKB
disjoint_from: MONDO:0020693 ! glycogen storage disease due to liver phosphorylase kinase deficiency
relationship: disease_disrupts GO:0004689 ! phosphorylase kinase activity
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8927 {source="MONDO:mim2gene_medgen", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! PHKB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009869
name: isolated Pierre-Robin syndrome
def: "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." [Orphanet:718]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1579"}
subset: ordo_disorder {source="Orphanet:718"}
subset: ordo_malformation_syndrome {source="Orphanet:718"}
subset: orphanet_rare {source="Orphanet:718"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glossoptosis, micrognathia, and cleft palate" RELATED [MESH:D010855, OMIM:261800]
synonym: "isolated Pierre Robin sequence" EXACT [Orphanet:718]
synonym: "isolated Pierre Robin syndrome" RELATED [Orphanet:718]
synonym: "isolated Pierre-Robin syndrome" EXACT CLINGEN_LABEL []
synonym: "Pierre Robin Sequence" EXACT [NORD:1579]
synonym: "Pierre Robin sequence" RELATED [MESH:D010855, OMIM:261800]
synonym: "Pierre Robin syndrome" RELATED [MONDO:Lexical, OMIM:261800]
synonym: "Pierre Robin syndrome skeletal dysplasia polydactyly" RELATED [GARD:0004354]
synonym: "Pierre Robin's sequence" RELATED [MESH:D010855]
synonym: "Pierre Robins sequence" RELATED [MESH:D010855]
synonym: "Pierre-Robin syndrome" RELATED [MESH:D010855]
synonym: "PRBNS" RELATED ABBREVIATION [MESH:D010855, MONDO:Lexical, OMIM:261800]
synonym: "Robin sequence" RELATED [MESH:D010855]
synonym: "Robin syndrome, Pierre" RELATED [MESH:D010855]
synonym: "sequence, Pierre Robin" RELATED [MESH:D010855]
synonym: "sequence, Pierre Robin's" RELATED [MESH:D010855]
synonym: "sequence, Robin" RELATED [MESH:D010855]
synonym: "syndrome, Pierre Robin" RELATED [MESH:D010855]
synonym: "syndrome, Pierre-Robin" RELATED [MESH:D010855]
xref: GARD:4347 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:718/inclusion", source="Orphanet:718/ntbt", source="Orphanet:718"}
xref: icd11.foundation:136361299 {source="MONDO:equivalentTo", source="Orphanet:718", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:19310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010855 {source="MONDO:equivalentTo"}
xref: NCIT:C85010 {source="MONDO:equivalentTo"}
xref: NORD:1579 {source="MONDO:NORD"}
xref: OMIM:261800 {source="Orphanet:718/e", source="MONDO:equivalentTo", source="Orphanet:718"}
xref: Orphanet:718 {source="OMIM:261800", source="MONDO:equivalentTo"}
xref: SCTID:4602007 {source="MONDO:equivalentTo"}
xref: UMLS:C0031900 {source="MEDGEN:19310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
relationship: disease_has_feature HP:0000201 ! Pierre-Robin sequence
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C85010", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations

[Term]
id: MONDO:0009870
name: pili torti
def: "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome." [Orphanet:2889]
subset: gard_rare {source="GARD:4361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2889"}
subset: orphanet_rare {source="Orphanet:2889"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coarse, dry, lusterless hair which breaks off easily" RELATED [GARD:0004361]
synonym: "pili torti" EXACT [MONDO:ambiguous]
synonym: "pili torti (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pili torti, early-onset" RELATED [OMIM:261900]
synonym: "pili torti, Ronchese type" RELATED [OMIM:261900]
synonym: "twisted hair" EXACT [OMIM:261900, Orphanet:2889]
xref: GARD:4361 {source="MONDO:GARD"}
xref: HP:0003777 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q84.1 {source="Orphanet:2889", source="Orphanet:2889/attributed", source="Orphanet:2889/ntbt"}
xref: MEDGEN:82670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562485 {source="MONDO:equivalentTo"}
xref: OMIM:261900 {source="MONDO:equivalentTo", source="Orphanet:2889", source="Orphanet:2889/e"}
xref: Orphanet:2889 {source="OMIM:261900", source="MONDO:equivalentTo"}
xref: SCTID:17170005 {source="MONDO:equivalentTo"}
xref: UMLS:C0263491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82670"}
is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly
property_value: IAO:0000589 "pili torti (disease)" xsd:string

[Term]
id: MONDO:0009871
name: pili torti-developmental delay-neurological abnormalities syndrome
def: "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents." [Orphanet:2891]
subset: gard_rare {source="GARD:4362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2891"}
subset: ordo_malformation_syndrome {source="Orphanet:2891"}
subset: orphanet_rare {source="Orphanet:2891"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abnormal hair, joint laxity, and developmental delay" EXACT [OMIM:261990, OMIM:genemap2]
synonym: "pili torti and developmental delay" RELATED [OMIM:261990]
synonym: "pili torti developmental delay neurological abnormalities" RELATED [GARD:0004362]
xref: GARD:4362 {source="MONDO:GARD"}
xref: MEDGEN:342358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537398 {source="Orphanet:2891", source="MONDO:equivalentTo", source="Orphanet:2891/e"}
xref: OMIM:261990 {source="Orphanet:2891", source="MONDO:equivalentTo", source="Orphanet:2891/e"}
xref: Orphanet:2891 {source="MONDO:equivalentTo", source="OMIM:261990"}
xref: UMLS:C1849811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342358"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009872
name: Bjornstad syndrome
def: "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome." [https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:859"}
subset: ordo_disorder {source="Orphanet:123"}
subset: orphanet_rare {source="Orphanet:123"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bjornstad syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:262000]
synonym: "BJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262000]
synonym: "BJörnstad syndrome" RELATED [Orphanet:123]
synonym: "Björnstad Syndrome" EXACT [NORD:859]
synonym: "deafness and pili torti, Bjornstad type" RELATED [GARD:0000022]
synonym: "deafness-pili torti-hypogonadism syndrome" EXACT [Orphanet:123]
synonym: "pili torti and nerve deafness" RELATED [OMIM:262000]
synonym: "pili torti-sensorineural hearing loss" RELATED [GARD:0000022]
synonym: "PTD" RELATED ABBREVIATION [OMIM:262000]
synonym: "PTND" RELATED ABBREVIATION [GARD:0000022]
xref: DOID:0050677 {source="MONDO:equivalentTo"}
xref: GARD:22 {source="MONDO:GARD"}
xref: MEDGEN:82728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537633 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="Orphanet:123"}
xref: NORD:859 {source="MONDO:NORD"}
xref: OMIM:262000 {source="Orphanet:123/e", source="MONDO:equivalentTo", source="DOID:0050677", source="Orphanet:123"}
xref: Orphanet:123 {source="MONDO:equivalentTo", source="OMIM:262000"}
xref: UMLS:C0266006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82728"}
is_a: MONDO:0006025 {source="DOID:0050677", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0044970 ! mitochondrial disease
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:262000", source="Orphanet:123"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 {source="MONDO:mim2gene_medgen"} ! BCS1L
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome" xsd:anyURI {source="GARD:0000022"}

[Term]
id: MONDO:0009873
name: pilodental dysplasia-refractive errors syndrome
def: "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985." [Orphanet:2892]
subset: gard_rare {source="GARD:277", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2892"}
subset: ordo_malformation_syndrome {source="Orphanet:2892"}
subset: orphanet_rare {source="Orphanet:2892"}
subset: rare
synonym: "Euhidrotic ectodermal dysplasia" EXACT [Orphanet:2892]
synonym: "Kopysc-Barczyk-Krol syndrome" EXACT [Orphanet:2892]
synonym: "PILODENTAL dysplasia with refractive errors" RELATED [OMIM:262020]
synonym: "Trichodental dysplasia with hyperopia" RELATED [OMIM:262020]
xref: GARD:277 {source="MONDO:GARD"}
xref: MEDGEN:376661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535763 {source="MONDO:equivalentTo"}
xref: OMIM:262020 {source="Orphanet:2892", source="MONDO:equivalentTo", source="Orphanet:2892/e"}
xref: Orphanet:2892 {source="MONDO:equivalentTo", source="OMIM:262020"}
xref: UMLS:C1849805 {source="MEDGEN:376661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C535763", source="Orphanet:2892"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0009874
name: Rabson-Mendenhall syndrome
def: "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)." [Orphanet:769]
subset: gard_rare {source="GARD:226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1645"}
subset: ordo_disorder {source="Orphanet:769"}
subset: ordo_malformation_syndrome {source="Orphanet:769"}
subset: orphanet_rare {source="Orphanet:769"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mendenhall syndrome" RELATED [OMIM:262190]
synonym: "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" RELATED [OMIM:262190]
synonym: "Rabson-Mendenhall syndrome" EXACT [OMIM:262190]
xref: GARD:226 {source="MONDO:GARD"}
xref: ICD10CM:E13 {source="Orphanet:769", source="Orphanet:769/attributed", source="Orphanet:769/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056731 {source="Orphanet:769", source="MONDO:directSiblingOf", source="Orphanet:769/e"}
xref: NCIT:C131000 {source="MONDO:equivalentTo"}
xref: NORD:1645 {source="MONDO:NORD"}
xref: OMIM:262190 {source="MONDO:equivalentTo", source="Orphanet:769", source="Orphanet:769/e"}
xref: Orphanet:769 {source="OMIM:262190", source="MONDO:equivalentTo"}
xref: SCTID:33559001 {source="MONDO:equivalentTo"}
xref: UMLS:C0271695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78783"}
is_a: MONDO:0002254 {source="NCIT:C131000"} ! syndromic disease
is_a: MONDO:0019280 {source="Orphanet:769"} ! hypertrichosis
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6091 {source="MONDO:mim2gene_medgen"} ! INSR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome" xsd:anyURI {source="GARD:0000226"}

[Term]
id: MONDO:0009875
name: achromatopsia 3
def: "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9650", source="MONDO:GARD"}
subset: rare
synonym: "ACHM1" EXACT ABBREVIATION [DOID:0110008]
synonym: "ACHM1 (formerly)" RELATED [GARD:0009650]
synonym: "ACHM1, formerly" RELATED [OMIM:262300]
synonym: "ACHM3" EXACT ABBREVIATION [DOID:0110008, MONDO:Lexical, OMIM:262300]
synonym: "achromatopsia 3" EXACT [MONDO:Lexical, OMIM:262300]
synonym: "achromatopsia caused by mutation in CNGB3" EXACT [MONDO:design_pattern]
synonym: "achromatopsia type 3" EXACT [DOID:0110008, MONDORULE:1, OMIM:262300]
synonym: "achromatopsia with myopia" RELATED [OMIM:262300]
synonym: "CNGB3 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pingelapese blindness" RELATED EXCLUDE [DOID:0110008]
synonym: "RMCH1" EXACT ABBREVIATION [DOID:0110008]
synonym: "RMCH1 (formerly)" RELATED [GARD:0009650]
synonym: "rod monochromacy 1" EXACT [DOID:0110008]
synonym: "Rod monochromacy 1 (formerly)" RELATED [GARD:0009650]
synonym: "rod monochromacy 1, formerly" RELATED [OMIM:262300]
synonym: "rod monochromatism 1" EXACT [DOID:0110008, OMIM:262300]
synonym: "Rod monochromatism 1 (formerly)" RELATED [GARD:0009650]
synonym: "rod monochromatism 1, formerly" RELATED [OMIM:262300]
synonym: "total colorblindness with myopia" RELATED [OMIM:262300]
xref: DOID:0110008 {source="MONDO:equivalentTo"}
xref: GARD:9650 {source="MONDO:GARD"}
xref: MEDGEN:340413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:262300 {source="DOID:0110008", source="MONDO:equivalentTo"}
xref: Orphanet:49382 {source="OMIM:262300"}
xref: UMLS:C1849792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340413"}
is_a: MONDO:0018852 {source="DC-OMIM:262300", source="DOID:0110008", source="MONDO:Redundant"} ! achromatopsia
is_a: MONDO:0100446 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB3-related retinopathy
intersection_of: MONDO:0018852 ! achromatopsia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2153 ! CNGB3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2153 {source="MONDO:mim2gene_medgen"} ! CNGB3

[Term]
id: MONDO:0009876
name: isolated growth hormone deficiency type IA
def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3." [DOID:0060873, PMID:16060904, PMID:8288694]
subset: gard_rare {source="GARD:7399", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231662"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive isolated growth hormone deficiency" EXACT [DOID:0060873]
synonym: "congenital IGHD" RELATED [GARD:0007399]
synonym: "congenital IGHD type IA" EXACT [Orphanet:231662]
synonym: "congenital isolated GH deficiency" RELATED [GARD:0007399]
synonym: "congenital isolated GH deficiency type IA" EXACT [Orphanet:231662]
synonym: "congenital isolated growth hormone deficiency" RELATED [GARD:0007399]
synonym: "congenital isolated growth hormone deficiency type IA" EXACT [Orphanet:231662]
synonym: "Growth hormone deficiency, isolated autosomal recessive" RELATED [GARD:0007399]
synonym: "Growth hormone deficiency, isolated, autosomal recessive" RELATED [OMIM:262400]
synonym: "growth hormone deficiency, isolated, type IA" EXACT [OMIM:262400, OMIM:genemap2]
synonym: "IGHD 1A" RELATED [OMIM:262400]
synonym: "IGHD IA" EXACT [DOID:0060873]
synonym: "IGHD1A" RELATED ABBREVIATION [GARD:0007399, MONDO:Lexical, OMIM:262400]
synonym: "ILLIG type growth hormone deficiency" RELATED [GARD:0007399]
synonym: "Illig-type Growth hormone deficiency" RELATED [OMIM:262400]
synonym: "Illig-type growth hormone deficiency" EXACT [DOID:0060873]
synonym: "isolated growth hormone deficiency type 1A" RELATED [GARD:0007399]
synonym: "isolated growth hormone deficiency type IA" EXACT [GARD:0007399]
synonym: "isolated Growth hormone deficiency, type 1A" RELATED [OMIM:262400]
synonym: "isolated growth hormone deficiency, type IA" RELATED [MONDO:Lexical, OMIM:262400]
synonym: "non-acquired isolated growth hormone deficiency" RELATED [GARD:0007399]
synonym: "pituitary dwarfism 1" RELATED [GARD:0007399, OMIM:262400]
synonym: "pituitary dwarfism I" EXACT [DOID:0060873]
synonym: "primordial dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400]
synonym: "sexual ateleiotic dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400]
xref: DOID:0060873 {source="MONDO:equivalentTo"}
xref: GARD:7399 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:231662/attributed", source="Orphanet:231662/ntbt", source="DOID:0060873", source="Orphanet:231662"}
xref: ICD9:259.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537404 {source="MONDO:equivalentTo"}
xref: OMIM:262400 {source="DOID:0060873", source="Orphanet:231662", source="MONDO:equivalentTo", source="Orphanet:231662/e", source="GARD:0007399"}
xref: Orphanet:231662 {source="DOID:0060873", source="MONDO:equivalentTo", source="GARD:0007399", source="OMIM:262400"}
xref: Orphanet:631 {source="GARD:0007399", source="OMIM:262400"}
xref: SCTID:237837007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90986"}
is_a: MONDO:0000050 {source="DC-OMIM:262400", source="DOID:0060873", source="Orphanet:231662"} ! isolated congenital growth hormone deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4261 {source="MONDO:mim2gene_medgen"} ! GH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a" xsd:anyURI {source="GARD:0007399"}

[Term]
id: MONDO:0009877
name: Laron syndrome
def: "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." [Orphanet:633]
subset: gard_rare {source="GARD:6859", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1209", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:633"}
subset: orphanet_rare {source="Orphanet:633"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete growth hormone insensitivity" EXACT [Orphanet:633]
synonym: "GH receptor deficiency" EXACT [Orphanet:633]
synonym: "Growth Hormone Insensitivity" EXACT [NORD:1209]
synonym: "growth hormone insensitivity syndrome" RELATED [OMIM:262500]
synonym: "Growth hormone receptor deficiency" EXACT [OMIM:262500, Orphanet:633]
synonym: "Laron dwarfism" RELATED [GARD:0006859]
synonym: "Laron syndrome" EXACT [OMIM:262500]
synonym: "Laron type pituitary dwarfism I" RELATED [GARD:0006859]
synonym: "Laron-type dwarfism" EXACT [Orphanet:633]
synonym: "Laron-type isolated somatotropin defect" EXACT [DOID:9521]
synonym: "pituitary dwarfism 2" RELATED [OMIM:262500]
synonym: "pituitary dwarfism II" RELATED [GARD:0006859]
synonym: "primary GH insensitivity" EXACT [Orphanet:633]
synonym: "primary GH resistance" EXACT [Orphanet:633]
synonym: "primary growth hormone insensitivity" EXACT [Orphanet:633]
synonym: "primary growth hormone resistance" EXACT [Orphanet:633]
synonym: "short stature due to growth hormone resistance" EXACT [Orphanet:633]
xref: DOID:9521 {source="MONDO:equivalentTo"}
xref: GARD:6859 {source="MONDO:GARD"}
xref: ICD10CM:E34.3 {source="Orphanet:633/attributed", source="Orphanet:633/ntbt", source="Orphanet:633", source="DOID:9521"}
xref: MEDGEN:78776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046150 {source="Orphanet:633", source="MONDO:equivalentTo", source="Orphanet:633/e", source="DOID:9521"}
xref: NCIT:C130994 {source="MONDO:equivalentTo"}
xref: NORD:1209 {source="MONDO:NORD"}
xref: OMIM:262500 {source="Orphanet:633", source="MONDO:equivalentTo", source="Orphanet:633/e", source="DOID:9521"}
xref: Orphanet:633 {source="MONDO:equivalentTo", source="OMIM:262500"}
xref: SCTID:38196001 {source="MONDO:equivalentTo", source="DOID:9521"}
xref: UMLS:C0271568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78776"}
is_a: MONDO:0002254 {source="MONDO:0009877/inferred", source="MONDO:Redundant", source="NCIT:C130994"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:9521", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015892 {source="Orphanet:633"} ! growth hormone insensitivity syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:262500", source="Orphanet:633"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4263 {source="MONDO:mim2gene_medgen"} ! GHR

[Term]
id: MONDO:0009878
name: pituitary hormone deficiency, combined, 2
def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ateliotic dwarfism with hypogonadism" RELATED [OMIM:262600]
synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1" EXACT [MONDO:design_pattern]
synonym: "CPHD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262600]
synonym: "Hanhart dwarfism" RELATED [OMIM:262600]
synonym: "panhypopituitarism" RELATED [OMIM:262600]
synonym: "pituitary dwarfism 3" RELATED [OMIM:262600]
synonym: "pituitary hormone deficiency, combined, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:262600]
synonym: "pituitary hormone deficiency, combined, type 2" EXACT [MONDORULE:1, OMIM:262600]
synonym: "PROP1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15222 {source="MONDO:GARD"}
xref: MEDGEN:209236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563172 {source="MONDO:equivalentTo"}
xref: OMIM:262600 {source="MONDO:equivalentTo"}
xref: Orphanet:90695 {source="OMIM:262600"}
xref: Orphanet:95494 {source="OMIM:262600"}
xref: UMLS:C0878683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209236"}
is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:262600", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form
is_a: MONDO:0019591 {source="Orphanet:90695/btnt"} ! panhypopituitarism
intersection_of: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9455 ! PROP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9455 {source="MONDO:mim2gene_medgen"} ! PROP1

[Term]
id: MONDO:0009879
name: short stature due to growth hormone qualitative anomaly
def: "Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." [Orphanet:629]
subset: gard_rare {source="GARD:408", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:629"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Biodefective Growth hormone" RELATED [OMIM:262650]
synonym: "KOWARSKI syndrome" RELATED [OMIM:262650]
synonym: "Kowarski syndrome" EXACT [Orphanet:629]
synonym: "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" RELATED [OMIM:262650]
xref: GARD:408 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:629", source="Orphanet:629/attributed", source="Orphanet:629/ntbt"}
xref: MEDGEN:340412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537505 {source="MONDO:equivalentTo"}
xref: OMIM:262650 {source="MONDO:equivalentTo", source="Orphanet:629", source="Orphanet:629/e"}
xref: Orphanet:629 {source="MONDO:equivalentTo", source="OMIM:262650"}
xref: Orphanet:631 {source="OMIM:262650"}
xref: UMLS:C1849779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340412"}
is_a: MONDO:0000050 {source="Orphanet:629"} ! isolated congenital growth hormone deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4261 {source="MONDO:mim2gene_medgen"} ! GH1

[Term]
id: MONDO:0009880
name: short stature-pituitary and cerebellar defects-small sella turcica syndrome
def: "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)." [Orphanet:85442]
subset: gard_rare {source="GARD:10604", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85442"}
subset: orphanet_rare {source="Orphanet:85442"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CPHD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262700]
synonym: "pituitary hormone deficiency, combined 4" RELATED [GARD:0010604]
synonym: "pituitary hormone deficiency, combined with or without cerebellar defects" RELATED [GARD:0010604]
synonym: "pituitary hormone deficiency, combined, 4" RELATED [MONDO:Lexical, OMIM:262700]
synonym: "pituitary hormone deficiency, combined, type 4" EXACT [MONDORULE:1, OMIM:262700]
synonym: "pituitary hormone deficiency, combined, with or without cerebellar defects" RELATED [OMIM:262700]
synonym: "short stature, pituitary and cerebellar defects and small sella turcica" RELATED [GARD:0010604]
synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" RELATED [OMIM:262700]
xref: GARD:10604 {source="MONDO:GARD"}
xref: MEDGEN:394816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567492 {source="MONDO:equivalentTo"}
xref: OMIM:262700 {source="Orphanet:85442", source="MONDO:equivalentTo", source="Orphanet:85442/e"}
xref: Orphanet:85442 {source="OMIM:262700", source="MONDO:equivalentTo"}
xref: UMLS:C2678408 {source="MEDGEN:394816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005152 {source="MESH:C567492/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! hypopituitarism
is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:262700"} ! combined pituitary hormone deficiencies, genetic form
is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21734 {source="MONDO:mim2gene_medgen"} ! LHX4

[Term]
id: MONDO:0009881
name: pituitary dwarfism with large sella turcica
synonym: "pituitary dwarfism with large sella turcica" EXACT [OMIM:262710]
xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562705 {source="MONDO:equivalentTo"}
xref: OMIM:262710 {source="MONDO:equivalentTo"}
xref: SCTID:27270004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271575 {source="MEDGEN:78778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562705/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10607/pituitary-dwarfism-with-large-sella-turcica" xsd:anyURI {source="GARD:0010607"}

[Term]
id: MONDO:0009882
name: plasma clot retraction factor, deficiency of
synonym: "plasma clot retraction factor, deficiency of" EXACT [OMIM:262800]
xref: MEDGEN:376656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564885 {source="MONDO:equivalentTo"}
xref: OMIM:262800 {source="MONDO:equivalentTo"}
xref: UMLS:C1849778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376656"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009883
name: alpha-2-plasmin inhibitor deficiency
def: "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." [Orphanet:79]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79"}
subset: orphanet_rare {source="Orphanet:79"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-2-plasmin inhibitor deficiency" EXACT CLINGEN_LABEL [OMIM:262850]
synonym: "anti-plasmin deficiency, congenital" RELATED [GARD:0000731]
synonym: "antiplasmin deficiency" RELATED [OMIM:262850]
synonym: "antiplasmin deficiency, congenital" RELATED [GARD:0000731]
synonym: "antiplasmin defiency" EXACT [DOID:0060601]
synonym: "congenital alpha2-antiplasmin deficiency" RELATED [Orphanet:79]
synonym: "plasmin inhibitor deficiency" EXACT [DOID:0060601, OMIM:262850]
xref: DOID:0060601 {source="MONDO:equivalentTo"}
xref: GARD:731 {source="MONDO:GARD"}
xref: ICD10CM:D68.8 {source="Orphanet:79/attributed", source="Orphanet:79/ntbt", source="Orphanet:79", source="DOID:0060601"}
xref: icd11.foundation:688627594 {source="Orphanet:79", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:414178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537777 {source="MONDO:equivalentTo"}
xref: NANDO:2200687 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:262850 {source="Orphanet:79", source="MONDO:equivalentTo", source="DOID:0060601", source="Orphanet:79/e"}
xref: Orphanet:79 {source="MONDO:equivalentTo", source="DOID:0060601", source="OMIM:262850"}
xref: SCTID:716746003 {source="MONDO:equivalentTo"}
xref: UMLS:C2752081 {source="MEDGEN:414178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 {source="DOID:0060601", source="MESH:C537777"} ! hemorrhagic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9075 {source="MONDO:mim2gene_medgen"} ! SERPINF2

[Term]
id: MONDO:0009884
name: platelet prostacyclin receptor defect
synonym: "platelet prostacyclin receptor defect" EXACT [OMIM:262875]
synonym: "Vienna-Hietzing defect" RELATED [OMIM:262875]
xref: MEDGEN:337912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564884 {source="MONDO:equivalentTo"}
xref: OMIM:262875 {source="MONDO:equivalentTo"}
xref: UMLS:C1849774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337912"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009885
name: Scott syndrome
def: "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." [Orphanet:806]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:806"}
subset: orphanet_rare {source="Orphanet:806"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT7" EXACT ABBREVIATION [DOID:0111052]
synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT [DOID:0111052]
synonym: "bleeding Abnormality due to deficiency of Platelet binding of Factor 10" RELATED [OMIM:262890]
synonym: "bleeding disorder, Platelet-type, 7" RELATED [OMIM:262890]
synonym: "familial prothrombin consumption inhibitor" EXACT [DOID:0111052]
synonym: "familial prothrombin conversion defect" EXACT [DOID:0111052]
synonym: "Platelet factor X receptor deficiency" RELATED [GARD:0004777]
synonym: "platelet-type bleeding disorder 7" EXACT [DOID:0111052]
synonym: "prothrombin consumption deficiency" EXACT [DOID:0111052, OMIM:262890]
synonym: "prothrombin consumption inhibitor, familial" RELATED [OMIM:262890]
synonym: "prothrombin conversion defect, familial" RELATED [OMIM:262890]
synonym: "Scott syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:262890]
synonym: "SCTS" EXACT ABBREVIATION [DOID:0111052, MONDO:Lexical, OMIM:262890]
xref: DOID:0111052 {source="MONDO:equivalentTo"}
xref: GARD:4777 {source="MONDO:GARD"}
xref: ICD10CM:D69.8 {source="DOID:0111052", source="Orphanet:806/attributed", source="Orphanet:806/ntbt", source="Orphanet:806"}
xref: MEDGEN:167107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563120 {source="MONDO:equivalentTo"}
xref: NANDO:2200671 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:262890 {source="Orphanet:806/e", source="DOID:0111052", source="MONDO:equivalentTo", source="Orphanet:806"}
xref: Orphanet:806 {source="DOID:0111052", source="MONDO:equivalentTo", source="OMIM:262890"}
xref: SCTID:128098009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167107"}
is_a: MONDO:0000009 {source="DC-OMIM:262890", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:262890"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25240 {source="MONDO:mim2gene_medgen"} ! ANO6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome" xsd:anyURI {source="GARD:0004777"}

[Term]
id: MONDO:0009886
name: pleoconial myopathy with salt craving
synonym: "pleoconial myopathy with salt craving" EXACT [OMIM:262900]
xref: MEDGEN:337911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564883 {source="MONDO:equivalentTo"}
xref: OMIM:262900 {source="MONDO:equivalentTo"}
xref: UMLS:C1849773 {source="MEDGEN:337911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10318/pleoconial-myopathy-with-salt-craving" xsd:anyURI {source="GARD:0010318"}

[Term]
id: MONDO:0009887
name: desquamative interstitial pneumonia
def: "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis." [NCIT:P378]
subset: gard_rare {source="GARD:16864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98852"}
subset: orphanet_rare {source="Orphanet:98852"}
subset: rare
synonym: "desquamative interstitial pneumonia" EXACT [MONDO:0020335]
synonym: "DIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263000]
synonym: "familial desquamative interstitial pneumonitis" EXACT [DOID:0050158]
synonym: "ILD, desquamative" RELATED [OMIM:263000]
synonym: "interstitial lung disease, desquamative" RELATED [OMIM:263000]
synonym: "interstitial pneumonitis, desquamative, familial" RELATED [MONDO:Lexical, OMIM:263000]
synonym: "pneumonia, desquamative interstitial, familial" RELATED [OMIM:263000]
synonym: "pneumonitis, desquamative interstitial, familial" RELATED [OMIM:263000]
synonym: "RBILD" EXACT ABBREVIATION [DOID:0050158]
synonym: "respiratory bronchiolitis interstitial lung disease" EXACT [NCIT:C35288]
synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [DOID:0050158]
xref: DOID:0050158 {source="MONDO:equivalentTo"}
xref: GARD:16864 {source="MONDO:GARD"}
xref: ICD10CM:J84.1 {source="Orphanet:98852/ntbt", source="Orphanet:98852"}
xref: ICD10CM:J84.115 {source="DOID:0050158"}
xref: ICD10CM:J84.117 {source="DOID:0050158"}
xref: icd11.foundation:1620001155 {source="Orphanet:98852", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:516.34 {source="DOID:0050158"}
xref: ICD9:516.37 {source="DOID:0050158"}
xref: MEDGEN:65962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562470 {source="DOID:0050158", source="MONDO:equivalentTo"}
xref: NANDO:1200422 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200423 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35288 {source="DOID:0050158", source="MONDO:equivalentTo"}
xref: OMIM:263000 {source="Orphanet:98852/btnt", source="DOID:0050158", source="MONDO:equivalentTo"}
xref: Orphanet:98852 {source="MONDO:equivalentTo", source="OMIM:263000"}
xref: SCTID:8549006 {source="DOID:0050158", source="MONDO:equivalentTo"}
xref: UMLS:C0238378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65962"}
is_a: MONDO:0002429 {source="DOID:0050158", source="NCIT:C35288", source="Orphanet:98852"} ! idiopathic interstitial pneumonia

[Term]
id: MONDO:0009888
name: polycystic kidney, cataract, and congenital blindness
synonym: "polycystic kidney, cataract, and congenital blindness" EXACT [OMIM:263100]
xref: MEDGEN:337910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564882 {source="MONDO:equivalentTo"}
xref: OMIM:263100 {source="MONDO:equivalentTo"}
xref: UMLS:C1849771 {source="MONDO:equivalentTo", source="MEDGEN:337910", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0009889
name: autosomal recessive polycystic kidney disease
def: "An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement." [Orphanet:731]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:831"}
subset: ordo_disorder {source="Orphanet:731"}
subset: orphanet_rare {source="Orphanet:731"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-PKD" EXACT [Orphanet:731]
synonym: "ARPKD" EXACT ABBREVIATION [DOID:0110861, MONDO:Lexical]
synonym: "autosomal recessive polycystic kidney" EXACT [NCIT:C84579]
synonym: "PKHD1" RELATED ABBREVIATION [DOID:0110861]
synonym: "polycystic kidney and hepatic disease 1" NARROW [DOID:0110861]
synonym: "polycystic kidney disease, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive]
synonym: "polycystic kidney disease, infantile type" EXACT [NCIT:C84579]
synonym: "polycystic kidney disease, infantile, type I" NARROW [DOID:0110861]
xref: DOID:0110861 {source="MONDO:equivalentTo"}
xref: GARD:8378 {source="MONDO:GARD"}
xref: ICD10CM:Q61.1 {source="Orphanet:731", source="Orphanet:731/e", source="DOID:0110861", source="Orphanet:731/specific"}
xref: ICD9:753.14 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10036047 {source="Orphanet:731", source="Orphanet:731/e"}
xref: MEDGEN:39076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016891 {source="DOID:0110861"}
xref: MESH:D017044 {source="Orphanet:731", source="Orphanet:731/e", source="DOID:0110861"}
xref: NANDO:1200369 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200154 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84579 {source="MONDO:equivalentTo"}
xref: NORD:831 {source="MONDO:NORD"}
xref: Orphanet:731 {source="MONDO:equivalentTo", source="OMIM:263200", source="DOID:0110861"}
xref: SCTID:28770003 {source="MONDO:equivalentTo"}
xref: UMLS:C0085548 {source="MEDGEN:39076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:0110861", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019741 {source="Orphanet:731"} ! familial cystic renal disease
is_a: MONDO:0020642 {source="NCIT:C84579"} ! polycystic kidney disease
intersection_of: MONDO:0020642 ! polycystic kidney disease
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic HP:0000007 {source="Orphanet:731"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0009890
name: Gillessen-Kaesbach-Nishimura syndrome
subset: gard_rare {source="GARD:15223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GIKANIS" RELATED ABBREVIATION [OMIM:263210]
synonym: "Gillessen-Kaesbach-Nishimura syndrome" EXACT [OMIM:263210]
synonym: "polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [OMIM:263210]
synonym: "polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [OMIM:263210]
xref: GARD:15223 {source="MONDO:GARD"}
xref: MEDGEN:376653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564881 {source="MONDO:equivalentTo"}
xref: OMIM:263210 {source="MONDO:equivalentTo"}
xref: Orphanet:79328 {source="OMIM:263210"}
xref: UMLS:C1849762 {source="MEDGEN:376653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012117 ! ALG9-congenital disorder of glycosylation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15672 {source="MONDO:mim2gene_medgen"} ! ALG9

[Term]
id: MONDO:0009891
name: acquired polycythemia vera
def: "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." [Orphanet:729]
subset: gard_rare {source="GARD:7422", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:729"}
subset: orphanet_rare {source="Orphanet:729"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired primary erythrocytosis" EXACT [Orphanet:729]
synonym: "Osler-Vaquez disease" EXACT [Orphanet:729]
synonym: "Osler-Vaquez syndrome" EXACT [DOID:8997]
synonym: "polycythaemia rubra vera" EXACT [DOID:8997]
synonym: "polycythemia rubra vera" EXACT [NCIT:C3336, OMIM:263300, Orphanet:729]
synonym: "polycythemia vera" EXACT [MONDO:Lexical, NCIT:C3336, OMIM:263300]
synonym: "polycythemia vera, somatic" EXACT [OMIM:263300, OMIM:genemap2]
synonym: "primary polycythemia" RELATED [GARD:0007422]
synonym: "proliferative polycythaemia" EXACT [DOID:8997]
synonym: "PRV" RELATED ABBREVIATION [GARD:0007422]
synonym: "PV" EXACT ABBREVIATION [MONDO:Lexical, OMIM:263300, Orphanet:729]
synonym: "Vaquez disease" EXACT [Orphanet:729]
xref: DOID:8997 {source="MONDO:equivalentTo", source="EFO:0002429"}
xref: EFO:0002429 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7422 {source="MONDO:GARD"}
xref: ICD10CM:D37-D48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D45 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729"}
xref: icd11.foundation:818364947 {source="MONDO:equivalentTo", source="Orphanet:729", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:238.4 {source="DOID:8997", source="EFO:0002429"}
xref: ICDO:9950/3 {source="NCIT:C3336"}
xref: MedDRA:10036057 {source="Orphanet:729/e", source="Orphanet:729"}
xref: MEDGEN:45996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011087 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729", source="EFO:0002429"}
xref: NANDO:2100186 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200643 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3336 {source="DOID:8997", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0002429"}
xref: OMIM:263300 {source="Orphanet:729/e", source="DOID:8997", source="MONDO:equivalentTo", source="Orphanet:729", source="EFO:0002429"}
xref: ONCOTREE:PV {source="MONDO:equivalentTo"}
xref: Orphanet:729 {source="MONDO:equivalentTo", source="OMIM:263300"}
xref: SCTID:109992005 {source="DOID:8997"}
xref: SCTID:128841001 {source="DOID:8997", source="EFO:0002429"}
xref: SCTID:134182002 {source="DOID:8997"}
xref: SCTID:154644004 {source="DOID:8997"}
xref: SCTID:269652000 {source="DOID:8997"}
xref: SCTID:278190000 {source="DOID:8997"}
xref: SCTID:31569001 {source="DOID:8997"}
xref: UMLS:C0032463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45996"}
is_a: MONDO:0005571 {source="DOID:8997", source="EFO:0002429", source="NCIT:C3336", source="Orphanet:729"} ! polycythemia
is_a: MONDO:0020076 {source="EFO:0002429", source="MONDO:Redundant", source="NCIT:C3336", source="ONCOTREE:PV", source="Orphanet:729"} ! myeloproliferative neoplasm
is_a: MONDO:0020703 {source="NCIT:C3336"} ! erythroid neoplasm
relationship: RO:0004004 http://identifiers.org/hgnc/6192 {source="MONDO:mim2gene_medgen", source="OMIM:263300"} ! has material basis in somatic mutation in JAK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009892
name: Chuvash polycythemia
def: "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death." [Orphanet:238557]
subset: gard_rare {source="GARD:17176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238557"}
subset: orphanet_rare {source="Orphanet:238557"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive benign erythrocytosis" EXACT [DOID:0060474]
synonym: "Chuvash erythrocytosis" RELATED [Orphanet:238557]
synonym: "Chuvash erythromatosis" EXACT [DOID:0060474]
synonym: "Chuvash polycythemia" EXACT [Orphanet:238557]
synonym: "Chuvash type polycythemia" EXACT [DOID:0060474]
synonym: "ECYT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263400]
synonym: "erythrocytosis, autosomal recessive benign" RELATED [OMIM:263400]
synonym: "erythrocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:263400]
synonym: "erythrocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:263400]
synonym: "familial erythrocytosis 2" EXACT [DOID:0060474]
synonym: "familial polycythemia caused by mutation in VHL" EXACT [MONDO:design_pattern]
synonym: "polycythemia, Chuvash type" RELATED [OMIM:263400]
synonym: "polycythemia, VHL-dependent" RELATED [OMIM:263400]
synonym: "VHL familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Von Hippel-Lindau-dependent polycythemia" EXACT [Orphanet:238557]
xref: DOID:0060474 {source="MONDO:equivalentTo"}
xref: GARD:17176 {source="MONDO:GARD"}
xref: ICD10CM:D75.1 {source="Orphanet:238557/attributed", source="Orphanet:238557/ntbt", source="DOID:0060474", source="Orphanet:238557"}
xref: MEDGEN:332974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563918 {source="MONDO:equivalentTo"}
xref: OMIM:263400 {source="DOID:0060474", source="Orphanet:238557", source="MONDO:equivalentTo", source="Orphanet:238557/e"}
xref: Orphanet:238557 {source="DOID:0060474", source="MONDO:equivalentTo", source="OMIM:263400"}
xref: UMLS:C1837915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332974"}
is_a: MONDO:0001115 {source="DC-OMIM:263400", source="DOID:0060474", source="MONDO:Redundant", source="OMIM:263400"} ! familial polycythemia
is_a: MONDO:0016540 {source="Orphanet:238557"} ! congenital secondary polycythemia
intersection_of: MONDO:0001115 ! familial polycythemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12687 ! VHL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12687 {source="MONDO:mim2gene_medgen"} ! VHL

[Term]
id: MONDO:0009893
name: polydactyly, postaxial, type A5
subset: gard_rare {source="GARD:18172", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PAPA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263450]
synonym: "polydactyly, postaxial, type A5" EXACT [MONDO:Lexical, OMIM:263450]
xref: GARD:18172 {source="MONDO:GARD"}
xref: MEDGEN:763575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:263450 {source="MONDO:equivalentTo"}
xref: Orphanet:93334 {source="OMIM:263450"}
xref: UMLS:C3550661 {source="MEDGEN:763575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A

[Term]
id: MONDO:0009894
name: short-rib thoracic dysplasia 6 with or without polydactyly
def: "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." [NCIT:C122654]
subset: gard_rare {source="GARD:15224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Majewski syndrome" EXACT [DOID:0110092, OMIM:263520]
synonym: "polydactyly with neonatal chondrodystrophy type II" EXACT [NCIT:C122654]
synonym: "polydactyly with neonatal chondrodystrophy, type 2" RELATED [OMIM:263520]
synonym: "polydactyly with neonatal chondrodystrophy, type II" EXACT [DOID:0110092]
synonym: "short rib-polydactyly syndrome type II" EXACT [NCIT:C122654]
synonym: "short rib-polydactyly syndrome type IIA" EXACT [DOID:0110092]
synonym: "short rib-polydactyly syndrome, type 2" RELATED [OMIM:263520]
synonym: "short rib-polydactyly syndrome, type 2A" RELATED [OMIM:263520]
synonym: "short-rib thoracic dysplasia 6 with or without polydactyly" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:263520]
synonym: "Srps, type 2" RELATED [OMIM:263520]
synonym: "SRPS2A" EXACT ABBREVIATION [DOID:0110092]
synonym: "SRTD6" EXACT ABBREVIATION [DOID:0110092, MONDO:Lexical, OMIM:263520]
xref: DOID:0110092 {source="MONDO:equivalentTo"}
xref: GARD:15224 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110092"}
xref: MEDGEN:44252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122654 {source="MONDO:equivalentTo"}
xref: OMIM:263520 {source="DOID:0110092", source="MONDO:equivalentTo"}
xref: Orphanet:93269 {source="OMIM:263520"}
xref: UMLS:C0024507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44252"}
is_a: MONDO:0015461 {source="MONDO:Redundant", source="NCIT:C122654"} ! short rib-polydactyly syndrome
is_a: MONDO:0018770 {source="DOID:0110092", source="OMIM:263520"} ! Jeune syndrome
is_a: MONDO:0019662 {source="Orphanet:93269/btnt"} ! short rib-polydactyly syndrome, Majewski type
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7744 {source="MONDO:mim2gene_medgen"} ! NEK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009895
name: postaxial polydactyly-dental and vertebral anomalies syndrome
def: "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." [Orphanet:2916]
subset: gard_rare {source="GARD:16614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2916"}
subset: ordo_malformation_syndrome {source="Orphanet:2916"}
subset: orphanet_rare {source="Orphanet:2916"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polydactyly, postaxial, with dental and vertebral anomalies" RELATED [OMIM:263540]
xref: GARD:16614 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2916/attributed", source="Orphanet:2916/ntbt", source="Orphanet:2916"}
xref: MEDGEN:342342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564880 {source="MONDO:equivalentTo"}
xref: OMIM:263540 {source="Orphanet:2916/e", source="MONDO:equivalentTo", source="Orphanet:2916"}
xref: Orphanet:2916 {source="MONDO:equivalentTo", source="OMIM:263540"}
xref: UMLS:C1849732 {source="MEDGEN:342342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:2916", source="Orphanet:2916/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0009896
name: polymyoclonus, infantile
synonym: "polymyoclonus, infantile" EXACT [OMIM:263550]
xref: MEDGEN:376647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535524 {source="MONDO:equivalentTo"}
xref: OMIM:263550 {source="MONDO:equivalentTo"}
xref: UMLS:C1849731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376647"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009897
name: adult polyglucosan body disease
def: "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." [Orphanet:206583]
subset: gard_rare {source="GARD:108", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1591", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:206583"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "APBD" EXACT ABBREVIATION [Orphanet:206583]
synonym: "APBN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263570]
synonym: "polyglucosan body disease, adult" RELATED [GARD:0000108]
synonym: "polyglucosan body disease, adult form" RELATED [OMIM:263570]
synonym: "polyglucosan body neuropathy, adult form" RELATED [MONDO:Lexical, OMIM:263570]
xref: GARD:108 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:206583/attributed", source="Orphanet:206583/ntbt", source="Orphanet:206583"}
xref: MEDGEN:342338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564878 {source="MONDO:equivalentTo"}
xref: NANDO:2201163 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1591 {source="MONDO:NORD"}
xref: OMIM:263570 {source="Orphanet:206583/e", source="MONDO:equivalentTo", source="Orphanet:206583"}
xref: Orphanet:206583 {source="MONDO:equivalentTo", source="OMIM:263570"}
xref: SCTID:721099001 {source="MONDO:equivalentTo"}
xref: UMLS:C1849722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342338"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0009292 {source="Orphanet:206583"} ! glycogen storage disease due to glycogen branching enzyme deficiency
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4180 {source="MONDO:mim2gene_medgen"} ! GBE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult" xsd:anyURI {source="GARD:0000108"}

[Term]
id: MONDO:0009898
name: polysaccharide, storage of unusual
synonym: "polysaccharide, storage of unusual" EXACT [OMIM:263600]
xref: MEDGEN:376645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564877 {source="MONDO:equivalentTo"}
xref: OMIM:263600 {source="MONDO:equivalentTo"}
xref: UMLS:C1849721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376645"}
is_a: MONDO:0003847 {source="MESH:C564877/inferred"} ! hereditary disease

[Term]
id: MONDO:0009899
name: polyhydramnios, chronic idiopathic
synonym: "Lactogen receptor defect of chorion" RELATED [OMIM:263610]
synonym: "polyhydramnios, chronic idiopathic" EXACT [OMIM:263610]
xref: MEDGEN:340402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564876 {source="MONDO:equivalentTo"}
xref: OMIM:263610 {source="MONDO:equivalentTo"}
xref: UMLS:C1849720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340402"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0009900
name: polysyndactyly-cardiac malformation syndrome
def: "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." [Orphanet:2934]
subset: gard_rare {source="GARD:4428", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2934"}
subset: ordo_malformation_syndrome {source="Orphanet:2934"}
subset: orphanet_rare {source="Orphanet:2934"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bonneau syndrome" EXACT [OMIM:263630, Orphanet:2934]
synonym: "polysyndactyly cardiac malformation" RELATED [GARD:0004428]
synonym: "polysyndactyly with CARDIAC malformation" RELATED [OMIM:263630]
xref: GARD:4428 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2934/attributed", source="Orphanet:2934/ntbt", source="Orphanet:2934"}
xref: MEDGEN:337895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564875 {source="MONDO:equivalentTo"}
xref: OMIM:263630 {source="Orphanet:2934/e", source="MONDO:equivalentTo", source="Orphanet:2934"}
xref: Orphanet:2934 {source="MONDO:equivalentTo", source="OMIM:263630"}
xref: SCTID:724066002 {source="MONDO:equivalentTo"}
xref: UMLS:C1849719 {source="MEDGEN:337895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2934"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2934", source="Orphanet:2934/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0009901
name: Bartsocas-Papas syndrome 1
def: "A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." [https://orcid.org/0000-0001-5208-3432, Orphanet:1234]
subset: gard_rare {source="GARD:4436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1234"}
subset: ordo_malformation_syndrome {source="Orphanet:1234"}
subset: orphanet_rare {source="Orphanet:1234"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive popliteal pterygium syndrome" EXACT [Orphanet:1234]
synonym: "Bartsocas Papas syndrome" EXACT [GARD:0004436]
synonym: "Bartsocas-Papas syndrome" EXACT CLINGEN_LABEL [Orphanet:1234]
synonym: "BPS" RELATED ABBREVIATION [GARD:0004436]
synonym: "lethal popliteal pterygium syndrome" EXACT [Orphanet:1234]
synonym: "multiple pterygium syndrome, Aslan type" RELATED [OMIM:263650]
synonym: "popliteal pterygium syndrome lethal type" RELATED [GARD:0004436]
synonym: "popliteal pterygium syndrome, Bartsocas-Papas type" RELATED [GARD:0004436]
synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 1" EXACT [OMIM:263650, OMIM:genemap2]
synonym: "popliteal pterygium syndrome, lethal type" EXACT [OMIM:263650]
synonym: "pterygium popliteal lethal type" RELATED [GARD:0004436]
synonym: "pterygium, popliteal, lethal type" RELATED [OMIM:263650]
xref: GARD:4436 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1234/attributed", source="Orphanet:1234/ntbt", source="Orphanet:1234"}
xref: MEDGEN:337894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564874 {source="MONDO:equivalentTo"}
xref: NCIT:C168990 {source="MONDO:equivalentTo"}
xref: OMIM:263650 {source="Orphanet:1234", source="MONDO:equivalentTo", source="Orphanet:1234/e"}
xref: Orphanet:1234 {source="MONDO:equivalentTo", source="OMIM:263650"}
xref: SCTID:722376008 {source="MONDO:equivalentTo"}
xref: UMLS:C1849718 {source="MEDGEN:337894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017435 {source="DC-OMIM:263650", source="Orphanet:1234"} ! popliteal pterygium syndrome
is_a: MONDO:0019287 {source="Orphanet:1234"} ! ectodermal dysplasia syndrome
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:1234"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/496 {source="MONDO:mim2gene_medgen"} ! RIPK4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009902
name: cutaneous porphyria
def: "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." [Orphanet:79277]
subset: gard_rare {source="GARD:4446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1599"}
subset: ordo_disorder {source="Orphanet:79277"}
subset: orphanet_rare {source="Orphanet:79277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CEP" EXACT ABBREVIATION [Orphanet:79277]
synonym: "Cep" RELATED [OMIM:263700]
synonym: "Congenital Erythropoietic Porphyria" EXACT [NORD:1599]
synonym: "congenital erythropoietic porphyria" RELATED [Orphanet:79277]
synonym: "congenital porphyria" RELATED [GARD:0004446]
synonym: "cutaneous porphyria" EXACT CLINGEN_LABEL []
synonym: "erythropoietic porphyria" EXACT [DOID:13271]
synonym: "Gunther disease" RELATED [OMIM:263700]
synonym: "Günther disease" EXACT [Orphanet:79277]
synonym: "porphyria, congenital erythropoietic" RELATED [OMIM:263700]
synonym: "uroporphyrinogen 3 synthase deficiency" RELATED [OMIM:263700]
synonym: "uroporphyrinogen III synthase, deficiency of" RELATED [GARD:0004446]
synonym: "Uros deficiency" RELATED [OMIM:263700]
xref: DOID:13271 {source="MONDO:equivalentTo"}
xref: GARD:4446 {source="MONDO:GARD"}
xref: ICD10CM:E80.0 {source="DOID:13271", source="Orphanet:79277/inclusion", source="Orphanet:79277/ntbt", source="Orphanet:79277"}
xref: MEDGEN:102408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017092 {source="DOID:13271", source="MONDO:equivalentTo"}
xref: NANDO:1200817 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201268 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84697 {source="DOID:13271", source="MONDO:equivalentTo"}
xref: NORD:1599 {source="MONDO:NORD"}
xref: OMIM:263700 {source="Orphanet:79277/e", source="DOID:13271", source="MONDO:equivalentTo", source="Orphanet:79277"}
xref: Orphanet:79277 {source="MONDO:equivalentTo", source="OMIM:263700"}
xref: SCTID:190913009 {source="DOID:13271"}
xref: SCTID:22935002 {source="DOID:13271"}
xref: SCTID:67312003 {source="DOID:13271", source="MONDO:equivalentTo"}
xref: UMLS:C0162530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102408"}
is_a: MONDO:0003664 {source="MONDO:0020104-obsoleted"} ! hemolytic anemia
is_a: MONDO:0019142 {source="DC-OMIM:263700", source="DOID:13271", source="MESH:D017092", source="NCIT:C84697", source="Orphanet:79277"} ! inherited porphyria
is_a: MONDO:0020585 {source="MONDO:0020104-obsoleted"} ! anemia due to erythrocyte enzyme disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12592 {source="MONDO:mim2gene_medgen"} ! UROS

[Term]
id: MONDO:0009903
name: postaxial acrofacial dysostosis
def: "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." [Orphanet:246]
subset: gard_rare {source="GARD:8410", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1448"}
subset: ordo_disorder {source="Orphanet:246"}
subset: ordo_malformation_syndrome {source="Orphanet:246"}
subset: orphanet_rare {source="Orphanet:246"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [Orphanet:246]
synonym: "Genee-Wiedemann acrofacial dysostosis" RELATED [GARD:0008410]
synonym: "Genee-Wiedemann syndrome" RELATED [OMIM:263750]
synonym: "GWAFD" RELATED ABBREVIATION [GARD:0008410]
synonym: "Mandibulfacial dysostosis with postaxial limb anomalies" EXACT [Orphanet:246]
synonym: "Miller Syndrome" EXACT [NORD:1448]
synonym: "Miller syndrome" EXACT [OMIM:263750, Orphanet:246]
synonym: "POADS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:263750, Orphanet:246]
synonym: "POADS syndrome" RELATED [GARD:0008410]
synonym: "postaxial acrodysostosis" EXACT [Orphanet:246]
synonym: "postaxial acrofacial dysostosis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:263750]
synonym: "postaxial acrofacial dysostosis (POADS) syndrome" RELATED [GARD:0008410]
synonym: "Wildervanck-Smith syndrome" RELATED [GARD:0008410]
xref: DOID:0111259 {source="MONDO:equivalentTo"}
xref: GARD:8410 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:246", source="Orphanet:246/attributed", source="Orphanet:246/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537680 {source="MONDO:equivalentTo"}
xref: NORD:1448 {source="MONDO:NORD"}
xref: OMIM:263750 {source="Orphanet:246", source="MONDO:equivalentTo", source="Orphanet:246/e"}
xref: Orphanet:246 {source="MONDO:equivalentTo", source="OMIM:263750"}
xref: SCTID:66038001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120522"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:246"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018237 {source="Orphanet:246"} ! acrofacial dysostosis
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:246", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2867 {source="MONDO:mim2gene_medgen"} ! DHODH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009904
name: Gitelman syndrome
def: "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." [Orphanet:358]
subset: gard_rare {source="GARD:8547", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1884"}
subset: ordo_disorder {source="Orphanet:358"}
subset: orphanet_rare {source="Orphanet:358"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hypokalemia-hypomagnesemia" RELATED [GARD:0008547]
synonym: "Gitelman syndrome" EXACT CLINGEN_LABEL [OMIM:263800]
synonym: "Gitelman's syndrome" RELATED [GARD:0008547]
synonym: "GTLMNS" RELATED ABBREVIATION [OMIM:263800]
synonym: "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria" EXACT [DOID:0050450, OMIM:263800]
synonym: "Potassium and magnesium depletion" RELATED [OMIM:263800]
synonym: "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" EXACT [Orphanet:358]
xref: DOID:0050450 {source="MONDO:equivalentTo"}
xref: GARD:8547 {source="MONDO:GARD"}
xref: ICD10CM:N15.8 {source="Orphanet:358/attributed", source="Orphanet:358/ntbt", source="Orphanet:358"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062906 {source="Orphanet:358", source="Orphanet:358/e"}
xref: MEDGEN:75681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053579 {source="Orphanet:358", source="MONDO:equivalentTo", source="Orphanet:358/e", source="DOID:0050450"}
xref: NANDO:2100020 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200145 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84730 {source="MONDO:equivalentTo", source="DOID:0050450"}
xref: NORD:1884 {source="MONDO:NORD"}
xref: OMIM:263800 {source="Orphanet:358", source="MONDO:equivalentTo", source="Orphanet:358/e", source="DOID:0050450"}
xref: Orphanet:358 {source="OMIM:263800", source="MONDO:equivalentTo"}
xref: SCTID:3188003 {source="DOID:0050450"}
xref: SCTID:707756004 {source="MONDO:equivalentTo", source="DOID:0050450"}
xref: UMLS:C0268450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75681"}
is_a: MONDO:0002254 {source="NCIT:C84730"} ! syndromic disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0006510 {source="DOID:0050450", source="MESH:D053579"} ! renal tubular transport disease
is_a: MONDO:0015962 {source="Orphanet:358"} ! inherited renal tubular disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10912 {source="MONDO:mim2gene_medgen"} ! SLC12A3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome" xsd:anyURI {source="GARD:0008547"}

[Term]
id: MONDO:0009905
name: urban-Rogers-Meyer syndrome
def: "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." [Orphanet:3409]
subset: gard_rare {source="GARD:5426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3409"}
subset: ordo_malformation_syndrome {source="Orphanet:3409"}
subset: orphanet_rare {source="Orphanet:3409"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability-short stature-hand contractures-genital anomalies syndrome" EXACT [Orphanet:3409]
synonym: "Prader-Willi habitus, osteopenia, and camptodactyly" RELATED [OMIM:264010]
synonym: "Prader-Willi habitus-osteopenia-camptodactyly syndrome" EXACT [Orphanet:3409]
synonym: "urban-Rogers-Meyer syndrome" EXACT [OMIM:264010]
xref: GARD:5426 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3409/attributed", source="Orphanet:3409/ntbt", source="Orphanet:3409"}
xref: MEDGEN:162919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538276 {source="MONDO:equivalentTo"}
xref: OMIM:264010 {source="Orphanet:3409/e", source="MONDO:equivalentTo", source="Orphanet:3409"}
xref: Orphanet:3409 {source="MONDO:equivalentTo", source="OMIM:264010"}
xref: SCTID:716334004 {source="MONDO:equivalentTo"}
xref: UMLS:C0796189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162919"}
is_a: MONDO:0015159 {source="Orphanet:3409"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3409", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009906
name: prenatal bowing
subset: gard_rare {source="GARD:15225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "prenatal bowing" EXACT [OMIM:264050]
xref: GARD:15225 {source="MONDO:GARD"}
xref: MEDGEN:337891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564873 {source="MONDO:equivalentTo"}
xref: OMIM:264050 {source="MONDO:equivalentTo"}
xref: Orphanet:2292 {source="OMIM:264050"}
xref: UMLS:C1849701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337891"}
is_a: MONDO:0008882 {source="Orphanet:2292/btnt"} ! congenital bowing of long bones

[Term]
id: MONDO:0009907
name: Prepapillary vascular loops
synonym: "Prepapillary vascular loops" EXACT [OMIM:264060]
synonym: "preretinal vascular loops" RELATED [OMIM:264060]
xref: MEDGEN:316814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563287 {source="MONDO:equivalentTo"}
xref: OMIM:264060 {source="MONDO:equivalentTo"}
xref: SCTID:424728002 {source="MONDO:equivalentTo"}
xref: UMLS:C1828066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:316814"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009908
name: pterin-4 alpha-carbinolamine dehydratase 1 deficiency
def: "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner." [Orphanet:1578]
comment: This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2843", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1578"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CADH deficiency" EXACT [OMIM:264070, Orphanet:1578]
synonym: "dehydratase deficiency" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40011/, Orphanet:1578]
synonym: "HPABH4D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264070]
synonym: "hyperphenylalaninemia due to dehydratase deficiency" EXACT [Orphanet:1578]
synonym: "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT [Orphanet:1578]
synonym: "hyperphenylalaninemia with primapterinuria" EXACT [OMIM:264070, Orphanet:1578]
synonym: "hyperphenylalaninemia, BH4-deficient, D" RELATED [MONDO:Lexical, OMIM:264070]
synonym: "hyperphenylalaninemia, Bh4-deficient, type D" EXACT [MONDORULE:1, OMIM:264070]
synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency" RELATED [OMIM:264070]
synonym: "PCBD deficiency" EXACT [OMIM:264070, Orphanet:1578]
synonym: "PCBD1 deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/]
synonym: "PCD deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/]
synonym: "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" EXACT []
synonym: "pterin-4 alpha-carbinolamine dehydratase deficiency" RELATED [Orphanet:1578]
synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" RELATED [GARD:0002843]
xref: DOID:0081131 {source="MONDO:equivalentTo"}
xref: GARD:2843 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:1578", source="Orphanet:1578/attributed", source="Orphanet:1578/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:337890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538382 {source="MONDO:equivalentTo"}
xref: OMIM:264070 {source="MONDO:equivalentTo", source="Orphanet:1578", source="Orphanet:1578/e"}
xref: Orphanet:1578 {source="OMIM:264070", source="MONDO:equivalentTo"}
xref: Orphanet:238583 {source="OMIM:264070"}
xref: SCTID:124646004 {source="MONDO:equivalentTo"}
xref: UMLS:C1849700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337890"}
is_a: MONDO:0016543 {source="DC-OMIM:264070", source="Orphanet:1578"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:264070", source="Orphanet:1578"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8646 {source="MONDO:mim2gene_medgen"} ! PCBD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0009909
name: progesterone resistance
synonym: "progesterone resistance" EXACT [OMIM:264080]
synonym: "pseudocorpus luteum insufficiency" RELATED [OMIM:264080]
xref: MEDGEN:337889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564871 {source="MONDO:equivalentTo"}
xref: OMIM:264080 {source="MONDO:equivalentTo"}
xref: UMLS:C1849699 {source="MEDGEN:337889", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8910 {source="MONDO:mim2gene_medgen"} ! PGR

[Term]
id: MONDO:0009910
name: Wiedemann-Rautenstrauch syndrome
def: "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." [Orphanet:3455]
subset: gard_rare {source="GARD:330", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1852"}
subset: ordo_disorder {source="Orphanet:3455"}
subset: ordo_malformation_syndrome {source="Orphanet:3455"}
subset: orphanet_rare {source="Orphanet:3455"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neonatal progeroid syndrome" EXACT [Orphanet:3455]
synonym: "progeroid syndrome neonatal" RELATED [GARD:0000330]
synonym: "progeroid syndrome, neonatal" RELATED [OMIM:264090]
synonym: "Wiedemann Rautenstrauch Syndrome" EXACT [NORD:1852]
synonym: "Wiedemann Rautenstrauch syndrome" RELATED [GARD:0000330]
synonym: "Wiedemann-Rautenstrauch syndrome" EXACT [OMIM:264090]
xref: DOID:0081333 {source="MONDO:equivalentTo"}
xref: GARD:330 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:3455", source="Orphanet:3455/attributed", source="Orphanet:3455/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536423 {source="Orphanet:3455", source="MONDO:equivalentTo", source="Orphanet:3455/e"}
xref: NCIT:C121565 {source="MONDO:equivalentTo"}
xref: NORD:1852 {source="MONDO:NORD"}
xref: OMIM:264090 {source="Orphanet:3455", source="MONDO:equivalentTo", source="Orphanet:3455/e"}
xref: Orphanet:3455 {source="MONDO:equivalentTo", source="OMIM:264090"}
xref: SCTID:238874008 {source="MONDO:equivalentTo"}
xref: UMLS:C0406586 {source="MONDO:equivalentTo", source="MEDGEN:140806", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:3455"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015333 {source="DC-OMIM:264090", source="Orphanet:3455"} ! progeroid syndrome
is_a: MONDO:0019303 {source="Orphanet:3455"} ! premature aging syndrome
is_a: MONDO:0020087 {source="Orphanet:3455"} ! hereditary lipodystrophy
is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3455", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0009911
name: prolactin deficiency, isolated
synonym: "prolactin deficiency, isolated" EXACT [OMIM:264110]
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562708 {source="MONDO:equivalentTo"}
xref: OMIM:264110 {source="MONDO:equivalentTo"}
xref: SCTID:67873006 {source="MONDO:equivalentTo"}
xref: UMLS:C0271586 {source="MEDGEN:75758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562708"} ! hereditary disease

[Term]
id: MONDO:0009912
name: prolactin deficiency with obesity and enlarged testes
synonym: "PRL deficiency with obesity and enlarged testes" RELATED [OMIM:264120]
synonym: "prolactin deficiency with obesity and enlarged testes" EXACT [OMIM:264120]
xref: MEDGEN:341515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564870 {source="MONDO:equivalentTo"}
xref: OMIM:264120 {source="MONDO:equivalentTo"}
xref: UMLS:C1849698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341515"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009913
name: prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness
synonym: "prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness" EXACT [OMIM:264140]
synonym: "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness" EXACT DEPRECATED [OMIM:264140]
xref: MEDGEN:96043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562894 {source="MONDO:equivalentTo"}
xref: OMIM:264140 {source="MONDO:equivalentTo"}
xref: SCTID:236529001 {source="MONDO:equivalentTo"}
xref: UMLS:C0403551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96043"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009914
name: pseudodiastrophic dysplasia
def: "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." [Orphanet:85174]
subset: gard_rare {source="GARD:9463", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85174"}
subset: ordo_malformation_syndrome {source="Orphanet:85174"}
subset: orphanet_rare {source="Orphanet:85174"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pseudodiastrophic dwarfism" RELATED [GARD:0009463]
synonym: "pseudodiastrophic dysplasia" EXACT [OMIM:264180]
xref: GARD:9463 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:85174/attributed", source="Orphanet:85174/ntbt", source="Orphanet:85174"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535826 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"}
xref: OMIM:264180 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"}
xref: Orphanet:85174 {source="OMIM:264180", source="MONDO:equivalentTo"}
xref: SCTID:254058002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432206 {source="MEDGEN:140924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:294049", source="Orphanet:85174", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia" xsd:anyURI {source="GARD:0009463"}

[Term]
id: MONDO:0009915
name: 46,XX disorder of sex development-skeletal anomalies syndrome
subset: gard_rare {source="GARD:16617", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2975"}
subset: ordo_malformation_syndrome {source="Orphanet:2975"}
subset: orphanet_rare {source="Orphanet:2975"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "female pseudohermaphroditism-skeletal anomalies syndrome" EXACT [Orphanet:2975]
synonym: "pseudohermaphroditism, female, with skeletal anomalies" RELATED [OMIM:264270]
xref: GARD:16617 {source="MONDO:GARD"}
xref: ICD10CM:Q56.2 {source="Orphanet:2975", source="Orphanet:2975/attributed", source="Orphanet:2975/ntbt"}
xref: MEDGEN:341514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564869 {source="MONDO:equivalentTo"}
xref: OMIM:264270 {source="MONDO:equivalentTo", source="Orphanet:2975", source="Orphanet:2975/e"}
xref: Orphanet:2975 {source="OMIM:264270", source="MONDO:equivalentTo"}
xref: UMLS:C1849696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341514"}
is_a: MONDO:0017576 {source="Orphanet:2975"} ! 46,XX disorder of sex development

[Term]
id: MONDO:0009916
name: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
def: "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." [NCIT:C120203]
subset: gard_rare {source="GARD:5659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:752"}
subset: orphanet_rare {source="Orphanet:752"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17 alpha ketosteroid reductase deficiency of testis" RELATED [GARD:0005659]
synonym: "17 alpha KSR deficiency" RELATED [GARD:0005659]
synonym: "17 Beta HSD3 deficiency" EXACT [NCIT:C120203]
synonym: "17 beta HSD3 deficiency" EXACT [NCIT:C120203]
synonym: "17 beta hydroxysteroid dehydrogenase III deficiency" RELATED [GARD:0005659]
synonym: "17-Beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [OMIM:264300]
synonym: "17-beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [GARD:0005659]
synonym: "17-BETA hydroxysteroid dehydrogenase III deficiency" RELATED [OMIM:264300]
synonym: "17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [Orphanet:752]
synonym: "17-ketoreductase deficiency" EXACT [Orphanet:752]
synonym: "17-ketosteroid reductase deficiency of testis" RELATED [OMIM:264300]
synonym: "17-ketosteroidreductase deficiency" EXACT [Orphanet:752]
synonym: "17-KSR deficiency" RELATED [OMIM:264300]
synonym: "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT CLINGEN_LABEL []
synonym: "Male pseudoherma-phroditism with gynecomastia" RELATED [GARD:0005659]
synonym: "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [Orphanet:752]
synonym: "neutral 17 beta hydroxysteroid oxidoreductase deficiency" RELATED [GARD:0005659]
synonym: "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency" RELATED [OMIM:264300]
synonym: "polycystic ovarian disease due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300]
synonym: "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300]
synonym: "pseudohermaphroditism, Male, with gynecomastia" RELATED [OMIM:264300]
xref: DOID:0112248 {source="MONDO:equivalentTo"}
xref: GARD:5659 {source="MONDO:GARD"}
xref: ICD10CM:E29.1 {source="Orphanet:752", source="Orphanet:752/attributed", source="Orphanet:752/ntbt"}
xref: MEDGEN:120626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537805 {source="MONDO:equivalentTo"}
xref: MESH:C564868 {source="MONDO:equivalentTo"}
xref: NANDO:2200390 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C120203 {source="MONDO:equivalentTo"}
xref: OMIM:264300 {source="Orphanet:752", source="MONDO:equivalentTo", source="Orphanet:752/e"}
xref: Orphanet:752 {source="MONDO:equivalentTo", source="OMIM:264300"}
xref: SCTID:50658006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268296 {source="MEDGEN:120626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development
intersection_of: MONDO:0020040 ! 46,XY disorder of sex development
intersection_of: disease_has_basis_in_disruption_of GO:0047045 ! testosterone 17-beta-dehydrogenase (NADP+) activity
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5212 {source="MONDO:mim2gene_medgen"} ! HSD17B3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0009917
name: autosomal recessive pseudohypoaldosteronism type 1
def: "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." [Orphanet:171876]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:171876"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive PHA 1" EXACT [DOID:0060854]
synonym: "autosomal recessive pseudohypoaldosteronism type 1" EXACT [Orphanet:171876]
synonym: "generalised PHA1" RELATED OMO:0003005 []
synonym: "generalised pseudohypoaldosteronism type 1" RELATED OMO:0003005 []
synonym: "generalized PHA1" RELATED [GARD:0004552]
synonym: "generalized pseudohypoaldosteronism type 1" RELATED [GARD:0004552]
synonym: "PHA I, autosomal recessive" RELATED [OMIM:264350]
synonym: "PHA1B" EXACT ABBREVIATION [DOID:0060854, MONDO:Lexical, OMIM:264350]
synonym: "pseudohypoaldosteronism type 1 autosomal recessive" RELATED [GARD:0004552]
synonym: "pseudohypoaldosteronism type 1, recessive" RELATED [GARD:0004552]
synonym: "pseudohypoaldosteronism, type I, autosomal recessive" RELATED [MONDO:Lexical, OMIM:264350]
xref: DOID:0060854 {source="MONDO:equivalentTo"}
xref: GARD:4552 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:171876/attributed", source="Orphanet:171876/ntbt", source="DOID:0060854", source="Orphanet:171876"}
xref: MEDGEN:1823950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011546 {source="DOID:0060854"}
xref: OMIM:264350 {source="Orphanet:171876/e", source="MONDO:equivalentTo", source="DOID:0060854", source="Orphanet:171876"}
xref: Orphanet:171876 {source="OMIM:264350", source="MONDO:equivalentTo", source="DOID:0060854"}
xref: Orphanet:756 {source="OMIM:264350", source="DOID:0060854"}
xref: UMLS:C5774176 {source="MEDGEN:1823950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019161 {source="Orphanet:171876"} ! pseudohypoaldosteronism type 1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1" xsd:anyURI {source="GARD:0004552"}

[Term]
id: MONDO:0009918
name: fundus dystrophy, pseudoinflammatory, recessive form
subset: gard_rare {source="GARD:9633", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fundus dystrophy, pseudoinflammatory recessive form" RELATED [GARD:0009633]
synonym: "fundus dystrophy, pseudoinflammatory, recessive form" EXACT [OMIM:264420]
synonym: "PFD Lavia type" RELATED [GARD:0009633]
synonym: "Pfd, Finnish type" RELATED [OMIM:264420]
synonym: "Pfd, Lavia type" RELATED [OMIM:264420]
synonym: "pseudoinflammatory fundus dystrophy" RELATED [GARD:0009633]
xref: GARD:9633 {source="MONDO:GARD"}
xref: MEDGEN:337888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535828 {source="MONDO:equivalentTo"}
xref: OMIM:264420 {source="MONDO:equivalentTo"}
xref: Orphanet:59181 {source="OMIM:264420"}
xref: UMLS:C1849694 {source="MONDO:equivalentTo", source="MEDGEN:337888", source="MONDO:MEDGEN"}
is_a: MONDO:0007640 {source="Orphanet:59181/btnt"} ! Sorsby fundus dystrophy

[Term]
id: MONDO:0009919
name: peroxisomal acyl-CoA oxidase deficiency
def: "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." [Orphanet:2971]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4543", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2971"}
subset: orphanet_rare {source="Orphanet:2971"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACOX1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "peroxisomal acyl-CoA oxidase deficiency" EXACT CLINGEN_LABEL [OMIM:264470]
synonym: "peroxisomal acyl-coenzyme A oxidase" EXACT [DOID:0050797]
synonym: "pseudo-NALD" EXACT [Orphanet:2971]
synonym: "pseudo-neonatal adrenoleukodystrophy" EXACT [Orphanet:2971]
synonym: "Pseudoadrenoleukodystrophy" EXACT [Orphanet:2971]
synonym: "Pseudoneonatal adrenoleukodystrophy" RELATED [OMIM:264470]
synonym: "straight-chain acyl-Coa oxidase deficiency" RELATED [OMIM:264470]
xref: DOID:0050797 {source="MONDO:equivalentTo"}
xref: GARD:4543 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:2971", source="Orphanet:2971/attributed", source="Orphanet:2971/ntbt"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:376636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536662 {source="Orphanet:2971", source="DOID:0050797", source="MONDO:equivalentTo", source="Orphanet:2971/e"}
xref: NANDO:1200765 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C170437 {source="MONDO:equivalentTo"}
xref: OMIM:264470 {source="Orphanet:2971", source="DOID:0050797", source="MONDO:equivalentTo", source="Orphanet:2971/e"}
xref: Orphanet:2971 {source="OMIM:264470", source="MONDO:equivalentTo"}
xref: SCTID:238069004 {source="MONDO:equivalentTo"}
xref: UMLS:C1849678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376636"}
is_a: MONDO:0019233 {source="Orphanet:2971", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/119 {source="MONDO:mim2gene_medgen"} ! ACOX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0009920
name: Acrootoocular syndrome
def: "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disk swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." [Orphanet:2980]
subset: gard_rare {source="GARD:4559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2980"}
subset: ordo_malformation_syndrome {source="Orphanet:2980"}
subset: orphanet_rare {source="Orphanet:2980"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrootoocular syndrome" EXACT [OMIM:264475]
synonym: "Aoo syndrome" RELATED [OMIM:264475]
synonym: "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" RELATED [OMIM:264475]
synonym: "pseudopapilledema-blepharophimosis-hand anomalies syndrome" EXACT [Orphanet:2980]
xref: GARD:4559 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2980", source="Orphanet:2980/attributed", source="Orphanet:2980/ntbt"}
xref: MEDGEN:337882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564866 {source="MONDO:equivalentTo"}
xref: OMIM:264475 {source="Orphanet:2980", source="MONDO:equivalentTo", source="Orphanet:2980/e"}
xref: Orphanet:2980 {source="MONDO:equivalentTo", source="OMIM:264475"}
xref: SCTID:720410001 {source="MONDO:equivalentTo"}
xref: UMLS:C1849661 {source="MEDGEN:337882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0009921
name: holoprosencephaly-postaxial polydactyly syndrome
def: "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." [Orphanet:2166]
subset: gard_rare {source="GARD:344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2166"}
subset: ordo_malformation_syndrome {source="Orphanet:2166"}
subset: orphanet_rare {source="Orphanet:2166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "holoprosencephaly polydactyly syndrome" RELATED [GARD:0000344]
synonym: "holoprosencephaly-polydactyly syndrome" RELATED [OMIM:264480]
synonym: "pseudo trisomy 13 syndrome" RELATED [GARD:0000344]
synonym: "pseudo-trisomy 13 syndrome" EXACT [Orphanet:2166]
synonym: "PSEUDOTRISOMY 13 syndrome" RELATED [OMIM:264480]
synonym: "Young-Maders syndrome" RELATED [GARD:0000344]
xref: GARD:344 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2166", source="Orphanet:2166/attributed", source="Orphanet:2166/ntbt"}
xref: MEDGEN:340382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535829 {source="MONDO:equivalentTo"}
xref: NCIT:C125418 {source="MONDO:equivalentTo"}
xref: OMIM:264480 {source="Orphanet:2166", source="MONDO:equivalentTo", source="Orphanet:2166/e"}
xref: Orphanet:2166 {source="OMIM:264480", source="MONDO:equivalentTo"}
xref: SCTID:716091000 {source="MONDO:equivalentTo"}
xref: UMLS:C1849649 {source="MEDGEN:340382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125418"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2166"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2166", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009922
name: Pseudouridinuria and mental defect
synonym: "Pseudouridinuria and mental defect" EXACT [OMIM:264500]
xref: MEDGEN:376629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564864 {source="MONDO:equivalentTo"}
xref: OMIM:264500 {source="MONDO:equivalentTo"}
xref: UMLS:C1849648 {source="MEDGEN:376629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564864/inferred"} ! hereditary disease

[Term]
id: MONDO:0009923
name: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
def: "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." [Orphanet:753]
subset: gard_rare {source="GARD:5680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:753"}
subset: orphanet_rare {source="Orphanet:753"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" EXACT [NCIT:C98699]
synonym: "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" EXACT CLINGEN_LABEL []
synonym: "46,XY DSD due to 5-alpha-reductase 2 deficiency" EXACT [Orphanet:753]
synonym: "5 Alpha steroid reductase 2 deficiency" EXACT [NCIT:C98699]
synonym: "5-alpha reductase deficiency" RELATED [GARD:0005680]
synonym: "familial incomplete Male pseudohermaphroditism, type 2" RELATED [OMIM:264600]
synonym: "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" EXACT [Orphanet:753]
synonym: "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency" RELATED [OMIM:264600]
synonym: "micropenis" RELATED [OMIM:264600]
synonym: "PPSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264600]
synonym: "pseudovaginal perineoscrotal hypospadias" EXACT [MONDO:Lexical, OMIM:264600, Orphanet:753]
synonym: "steroid 5-alpha-reductase deficiency" EXACT [Orphanet:753]
xref: GARD:5680 {source="MONDO:GARD"}
xref: ICD10CM:Q56.1 {source="Orphanet:753", source="Orphanet:753/attributed", source="Orphanet:753/ntbt"}
xref: MedDRA:10000029 {source="Orphanet:753", source="Orphanet:753/e"}
xref: MEDGEN:75667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535830 {source="MONDO:equivalentTo"}
xref: NANDO:2200389 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98699 {source="MONDO:equivalentTo"}
xref: OMIM:264600 {source="Orphanet:753", source="MONDO:equivalentTo", source="Orphanet:753/e"}
xref: Orphanet:753 {source="MONDO:equivalentTo", source="OMIM:264600"}
xref: SCTID:57514000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268297 {source="MEDGEN:75667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98699"} ! inherited lipid metabolism disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11285 {source="MONDO:mim2gene_medgen"} ! SRD5A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0009924
name: vitamin D-dependent rickets, type 1
def: "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." [Orphanet:289157]
subset: gard_rare {source="GARD:17319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289157"}
subset: orphanet_rare {source="Orphanet:289157"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1 Alpha-hydroxylase deficiency" EXACT [NCIT:C131073]
synonym: "1-alpha-hydroxylase deficiency" EXACT [Orphanet:289157]
synonym: "hypocalcemic vitamin D-dependent rickets" EXACT [Orphanet:289157]
synonym: "PDDRI" EXACT ABBREVIATION [Orphanet:289157]
synonym: "pseudo vitamin-D deficient rickets" EXACT [NCIT:C131073]
synonym: "pseudovitamin D-deficient rickets" EXACT [Orphanet:289157]
synonym: "selective 1-alpha, 25-hydroxyvitamin D3 deficiency" EXACT [NCIT:C131073]
synonym: "VDDI" EXACT ABBREVIATION [Orphanet:289157]
synonym: "VDDR-I" EXACT [Orphanet:289157]
synonym: "VDDR1" EXACT ABBREVIATION [NCIT:C131073]
synonym: "vitamin D 1 Alpha-Hydroxylase deficiency" EXACT [NCIT:C131073]
synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700]
synonym: "vitamin D dependent rickets type I" EXACT [Orphanet:289157]
synonym: "vitamin D-dependency type I" EXACT [Orphanet:289157]
synonym: "vitamin D-dependent rickets type 1" EXACT [NCIT:C131073]
xref: GARD:17319 {source="MONDO:GARD"}
xref: ICD10CM:E55.0 {source="Orphanet:289157/attributed", source="Orphanet:289157/ntbt", source="Orphanet:289157"}
xref: icd11.foundation:1270705227 {source="Orphanet:289157", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:124344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562688 {source="MONDO:equivalentTo"}
xref: NANDO:1200782 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131073 {source="MONDO:equivalentTo"}
xref: Orphanet:289157 {source="MONDO:equivalentTo", source="OMIM:264700"}
xref: SCTID:67049004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268689 {source="MEDGEN:124344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005520 {source="DC-OMIM:264700", source="MESH:C562688/inferred", source="MONDO:Redundant"} ! rickets
is_a: MONDO:0017323 {source="Orphanet:289157"} ! hypocalcemic rickets
is_a: MONDO:0024299 {source="https://orcid.org/0000-0002-6601-2165"} ! vitamin D-dependent rickets

[Term]
id: MONDO:0009925
name: autosomal recessive inherited pseudoxanthoma elasticum
def: "An autosomal recessive form of PXE." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="NORD:1629", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:758"}
subset: orphanet_rare {source="Orphanet:758"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR inherited pseudoxanthoma elasticum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6601-2165]
synonym: "Gronblad Strandberg syndrome" RELATED [GARD:0009643]
synonym: "Gronblad-Strandberg syndrome" EXACT [DOID:2738, OMIM:264800]
synonym: "Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:758]
synonym: "Pseudoxanthoma Elasticum" EXACT [NORD:1629]
synonym: "pseudoxanthoma elasticum" RELATED [MONDO:Lexical, OMIM:264800]
synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED [OMIM:264800]
synonym: "PXE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:264800, Orphanet:758]
synonym: "PXE, modifier of severity of" RELATED [OMIM:264800]
xref: DOID:2738 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q82.8 {source="Orphanet:758", source="Orphanet:758/index", source="Orphanet:758/ntbt"}
xref: icd11.foundation:1516160852 {source="MONDO:equivalentTo", source="Orphanet:758", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10037150 {source="Orphanet:758", source="Orphanet:758/e"}
xref: MEDGEN:698415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011561 {source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="Orphanet:758/e"}
xref: NCIT:C85036 {source="MONDO:equivalentTo", source="DOID:2738"}
xref: NORD:1629 {source="MONDO:NORD"}
xref: OMIM:264800 {source="MONDO:equivalentTo", source="Orphanet:758", source="DOID:2738", source="Orphanet:758/e"}
xref: Orphanet:758 {source="MONDO:equivalentTo", source="DOID:2738", source="OMIM:264800"}
xref: SCTID:157017000 {source="DOID:2738"}
xref: SCTID:205574000 {source="DOID:2738"}
xref: SCTID:239140003 {source="MONDO:relatedTo", source="DOID:2738"}
xref: SCTID:252246005 {source="DOID:2738"}
xref: SCTID:268355000 {source="DOID:2738"}
xref: SCTID:402782006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:7109007 {source="DOID:2738"}
xref: SCTID:72744008 {source="MONDO:equivalentTo"}
xref: UMLS:C1275116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:698415"}
is_a: MONDO:0003900 ! connective tissue disorder
is_a: MONDO:0006025 {source="DOID:2738", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0100091 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! inherited pseudoxanthoma elasticum
intersection_of: MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0016340 {source="Orphanet:758", source="https://orcid.org/0000-0001-5208-3432"} ! familial restrictive cardiomyopathy
relationship: excluded_subClassOf MONDO:0019755 {source="MONDO:0015332-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0024308 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! pseudoxanthoma elasticum (inherited or acquired)
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:264800", source="Orphanet:758"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 {source="MONDO:mim2gene_medgen"} ! ABCC6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum" xsd:anyURI {source="GARD:0009643"}

[Term]
id: MONDO:0009926
name: autosomal recessive multiple pterygium syndrome
def: "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." [NCIT:C101039]
subset: gard_rare {source="GARD:7111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2990"}
subset: ordo_malformation_syndrome {source="Orphanet:2990"}
subset: orphanet_rare {source="Orphanet:2990"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive multiple pterygium syndrome" EXACT [GARD:0007111]
synonym: "autosomal recessive non-lethal multiple pterygium syndrome" EXACT [Orphanet:2990]
synonym: "Escobar syndrome" EXACT [Orphanet:2990]
synonym: "Escobar variant multiple pterygium syndrome" EXACT [GARD:0007111, Orphanet:2990]
synonym: "EVMPS" EXACT ABBREVIATION [GARD:0007111, MONDO:Lexical, OMIM:265000, Orphanet:2990]
synonym: "multiple pterygium syndrome" RELATED [GARD:0007111, OMIM:265000]
synonym: "multiple pterygium syndrome Escobar type" RELATED [GARD:0007111]
synonym: "multiple pterygium syndrome nonlethal type" RELATED [GARD:0007111]
synonym: "multiple pterygium syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "multiple pterygium syndrome, ESCOBAR variant" RELATED [MONDO:Lexical, OMIM:265000]
synonym: "multiple pterygium syndrome, Nonlethal type" RELATED [OMIM:265000]
synonym: "pterygium colli syndrome" RELATED [GARD:0007111, OMIM:265000]
synonym: "pterygium syndrome" RELATED [GARD:0007111, OMIM:265000]
synonym: "pterygium Universale" RELATED [OMIM:265000]
synonym: "pterygium universale" RELATED [GARD:0007111]
xref: GARD:7111 {source="MONDO:GARD"}
xref: ICD10CM:Q79.8 {source="Orphanet:2990", source="Orphanet:2990/attributed", source="Orphanet:2990/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C101039 {source="MONDO:equivalentTo"}
xref: OMIM:265000 {source="Orphanet:2990", source="MONDO:equivalentTo", source="Orphanet:2990/e", source="GARD:0007111"}
xref: Orphanet:2990 {source="MONDO:equivalentTo", source="OMIM:265000", source="GARD:0007111"}
xref: SCTID:80773006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265261 {source="MEDGEN:82696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C101039"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2990"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0017415 {source="DC-OMIM:265000", source="MONDO:Redundant", source="Orphanet:2990"} ! multiple pterygium syndrome
intersection_of: MONDO:0017415 ! multiple pterygium syndrome
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1967 {source="MONDO:mim2gene_medgen"} ! CHRNG
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type" xsd:anyURI {source="GARD:0007111"}

[Term]
id: MONDO:0009927
name: 3MC syndrome 2
def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18428", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3MC syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:265050]
synonym: "3MC syndrome caused by mutation in COLEC11" EXACT [MONDO:design_pattern]
synonym: "3MC syndrome type 2" EXACT [DOID:0060576, MONDORULE:1]
synonym: "3Mc syndrome type 2" EXACT [MONDORULE:1, OMIM:265050]
synonym: "3MC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:265050]
synonym: "Carnevale syndrome" RELATED [OMIM:265050]
synonym: "Carnevale syndrome, formerly" RELATED [OMIM:265050]
synonym: "COLEC11 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "oculo-skeletal-abdominal syndrome" RELATED [OMIM:265050]
synonym: "Osa syndrome" RELATED [OMIM:265050]
synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" RELATED [OMIM:265050]
xref: DOID:0060576 {source="MONDO:equivalentTo"}
xref: EFO:1001977 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18428 {source="MONDO:GARD"}
xref: MEDGEN:167115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535586 {source="MONDO:equivalentTo"}
xref: OMIM:265050 {source="DOID:0060576", source="MONDO:equivalentTo"}
xref: Orphanet:293843 {source="OMIM:265050"}
xref: Orphanet:2998 {source="OMIM:265050", source="MONDO:equivalentObsolete"}
xref: UMLS:C0796279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167115"}
is_a: MONDO:0017398 {source="DC-OMIM:265050", source="DOID:0060576", source="EFO:1001977", source="MONDO:Redundant", source="OMIM:265050"} ! 3MC syndrome
intersection_of: MONDO:0017398 ! 3MC syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17213 ! COLEC11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17213 {source="MONDO:mim2gene_medgen"} ! COLEC11

[Term]
id: MONDO:0009928
name: pulmonary alveolar microlithiasis
def: "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis]
subset: gard_rare {source="GARD:11894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:60025"}
subset: orphanet_rare {source="Orphanet:60025"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pulmonary alveolar microlithiasis" EXACT CLINGEN_LABEL [OMIM:265100]
xref: DOID:12117 {source="MONDO:equivalentTo"}
xref: GARD:11894 {source="MONDO:GARD"}
xref: ICD10CM:J84.0 {source="Orphanet:60025/ntbt", source="Orphanet:60025/inclusion", source="Orphanet:60025"}
xref: ICD10CM:J84.02 {source="DOID:12117", source="MONDO:equivalentTo"}
xref: icd11.foundation:1220010076 {source="Orphanet:60025", source="MONDO:equivalentTo"}
xref: ICD9:516.2 {source="DOID:12117", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10037315 {source="Orphanet:60025", source="Orphanet:60025/e"}
xref: MEDGEN:56374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562405 {source="DOID:12117", source="MONDO:equivalentTo"}
xref: NANDO:2200202 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:265100 {source="DOID:12117", source="Orphanet:60025", source="MONDO:equivalentTo", source="Orphanet:60025/e"}
xref: Orphanet:60025 {source="MONDO:equivalentTo", source="OMIM:265100"}
xref: SCTID:196160008 {source="DOID:12117"}
xref: SCTID:87153008 {source="DOID:12117", source="MONDO:equivalentTo"}
xref: UMLS:C0155912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56374"}
is_a: MONDO:0005087 {source="Orphanet:60025"} ! respiratory system disorder
is_a: MONDO:0005275 {source="DOID:12117", source="MESH:C562405"} ! lung disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11020 {source="MONDO:mim2gene_medgen"} ! SLC34A2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis" xsd:anyURI {source="GARD:0011894"}

[Term]
id: MONDO:0009929
name: surfactant metabolism dysfunction, pulmonary, 1
subset: gard_rare {source="GARD:17126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217563"}
subset: orphanet_rare {source="Orphanet:217563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "interstitial lung disease due to SP-B dysfunction" EXACT CLINGEN_LABEL [https://orcid.org/0009-0007-1636-9645]
synonym: "interstitial lung disease due to surfactant Protein B deficiency" EXACT [OMIM:265120]
synonym: "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency" RELATED [OMIM:265120]
synonym: "neonatal acute respiratory distress due to SP-B deficiency" EXACT [Orphanet:217563]
synonym: "neonatal acute respiratory distress due to surfactant protein B deficiency" EXACT [Orphanet:217563]
synonym: "pulmonary alveolar proteinosis, congenital, 1" EXACT [OMIM:265120]
synonym: "pulmonary surfactant protein B, deficiency of" RELATED [GARD:0004595]
synonym: "SMDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:265120]
synonym: "surfactant metabolism dysfunction, pulmonary, 1" EXACT [MONDO:Lexical, OMIM:265120]
synonym: "surfactant metabolism dysfunction, pulmonary, type 1" EXACT [MONDORULE:1, OMIM:265120]
xref: GARD:17126 {source="MONDO:GARD"}
xref: ICD10CM:P28.0 {source="Orphanet:217563/ntbt", source="Orphanet:217563", source="Orphanet:217563/index"}
xref: MEDGEN:368844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566882 {source="MONDO:equivalentTo"}
xref: OMIM:265120 {source="Orphanet:217563/e", source="MONDO:equivalentTo", source="Orphanet:217563"}
xref: Orphanet:217563 {source="OMIM:265120", source="MONDO:equivalentTo"}
xref: Orphanet:264675 {source="OMIM:265120"}
xref: UMLS:C1968602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:368844"}
is_a: MONDO:0012580 {source="OMIM:265120", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary pulmonary alveolar proteinosis
intersection_of: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10801 ! SFTPB
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10801 {source="MONDO:mim2gene_medgen", source="OMIM:265120"} ! SFTPB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7306" xsd:anyURI

[Term]
id: MONDO:0009930
name: obsolete pulmonary arteriovenous malformation
def: "OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms." [Orphanet:2038]
comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0006548
subset: ordo_disorder {source="Orphanet:2038"}
subset: ordo_morphological_anomaly {source="Orphanet:2038"}
synonym: "arteriovenous fistula of pulmonary vessels" EXACT [NCIT:C99029]
synonym: "PAVM" EXACT ABBREVIATION [Orphanet:2038]
synonym: "pulmonar arteriovenous aneurysm" RELATED [GARD:0004584]
synonym: "pulmonary arterio-veinous fistula" RELATED [GARD:0004584]
synonym: "pulmonary arteriovenous fistula" EXACT [NCIT:C99029]
synonym: "pulmonary arteriovenous fistulas" RELATED [OMIM:265140]
synonym: "pulmonary arteriovenous malformation" EXACT [MONDO:ambiguous]
synonym: "pulmonary arteriovenous malformation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pulmonary AV fistula" EXACT [NCIT:C99029]
xref: GARD:4584 {source="MONDO:obsoleteEquivalent"}
xref: HP:0006548 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q25.7 {source="Orphanet:2038/ntbt", source="Orphanet:2038"}
xref: icd11.foundation:913404991 {source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10037332 {source="Orphanet:2038", source="Orphanet:2038/e"}
xref: MESH:C562404 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:2200295 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99029 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:265140 {source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="Orphanet:2038/e"}
xref: Orphanet:2038 {source="OMIM:265140", source="MONDO:obsoleteEquivalent"}
xref: SCTID:303070000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000589 "pulmonary arteriovenous malformation (disease)" xsd:string
is_obsolete: true
consider: HP:0006548

[Term]
id: MONDO:0009931
name: pulmonary atresia-intact ventricular septum syndrome
def: "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation." [Orphanet:1208]
subset: gard_rare {source="GARD:4600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1208"}
subset: ordo_morphological_anomaly {source="Orphanet:1208"}
subset: orphanet_rare {source="Orphanet:1208"}
subset: rare
synonym: "pulmonary atresia with intact ventricular septum" RELATED [OMIM:265150]
synonym: "pulmonary valve atresia with intact ventricular septum" EXACT [NCIT:C99032]
xref: GARD:4600 {source="MONDO:GARD"}
xref: ICD10CM:Q22.6 {source="Orphanet:1208", source="Orphanet:1208/ntbt"}
xref: icd11.foundation:131289265 {source="MONDO:equivalentTo", source="Orphanet:1208", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:87491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562832 {source="MONDO:equivalentTo"}
xref: NANDO:1200707 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200253 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99032 {source="MONDO:equivalentTo"}
xref: OMIM:265150 {source="Orphanet:1208/e", source="MONDO:equivalentTo", source="Orphanet:1208"}
xref: Orphanet:1208 {source="OMIM:265150", source="MONDO:equivalentTo"}
xref: SCTID:253590009 {source="MONDO:equivalentTo"}
xref: UMLS:C0344975 {source="MONDO:equivalentTo", source="MEDGEN:87491", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0020291 {source="Orphanet:1208"} ! hypoplastic right heart syndrome

[Term]
id: MONDO:0009932
name: pulmonary bullae causing pneumothorax
synonym: "pulmonary bullae causing pneumothorax" EXACT [OMIM:265200]
xref: MEDGEN:337856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564863 {source="MONDO:equivalentTo"}
xref: OMIM:265200 {source="MONDO:equivalentTo"}
xref: UMLS:C1849566 {source="MEDGEN:337856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009933
name: congenital pulmonary lymphangiectasia
def: "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." [Orphanet:2414]
subset: gard_rare {source="GARD:9900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1054"}
subset: ordo_disorder {source="Orphanet:2414"}
subset: orphanet_rare {source="Orphanet:2414"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital pulmonary lymphangiectasis" EXACT [NCIT:C99034]
synonym: "CPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:265300]
synonym: "Diffuse Pulmonary Lymphangiomatosis" EXACT [NORD:1054]
synonym: "lymphangiectasia pulmonary congenital" RELATED [GARD:0009900]
synonym: "lymphangiectasia, pulmonary, congenital" RELATED [MONDO:Lexical, OMIM:265300]
synonym: "lymphangiomatosis pulmonary" RELATED [GARD:0009900]
synonym: "lymphangiomatosis, pulmonary" RELATED [OMIM:265300]
synonym: "pulmonary cystic lymphangiectasis" RELATED [OMIM:265300]
synonym: "pulmonary lymphangiomatosis" EXACT [Orphanet:2414]
xref: GARD:9900 {source="MONDO:GARD"}
xref: ICD10CM:Q33.8 {source="Orphanet:2414", source="Orphanet:2414/attributed", source="Orphanet:2414/ntbt"}
xref: MEDGEN:340355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537727 {source="MONDO:equivalentTo", source="Orphanet:2414", source="Orphanet:2414/e"}
xref: NCIT:C99034 {source="MONDO:equivalentTo"}
xref: NORD:1054 {source="MONDO:NORD"}
xref: OMIM:265300 {source="MONDO:equivalentTo", source="Orphanet:2414", source="Orphanet:2414/e"}
xref: Orphanet:2414 {source="MONDO:equivalentTo", source="OMIM:265300"}
xref: SCTID:45142002 {source="MONDO:equivalentTo"}
xref: UMLS:C1849554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340355"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:2414", source="Orphanet:2414/inferred"} ! respiratory system disorder
is_a: MONDO:0006840 {source="MESH:C537727", source="NCIT:C99034"} ! lymphangiectasis
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia" xsd:anyURI {source="GARD:0009900"}

[Term]
id: MONDO:0009934
name: alveolar capillary dysplasia with misalignment of pulmonary veins
def: "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." [Orphanet:210122]
comment: Editor note: MESH and NCIT split this, see NCIT:C98809
subset: gard_rare {source="GARD:8644", source="MONDO:GARD"}
subset: nord_rare {source="NORD:759", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210122"}
subset: orphanet_rare {source="Orphanet:210122"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACDMPV" EXACT ABBREVIATION [MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122]
synonym: "alveolar capillary dysplasia" EXACT [NCIT:C98809]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT CLINGEN_LABEL [GARD:0008644, MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies" RELATED [OMIM:265380]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies" RELATED [MESH:C536590]
synonym: "alveolar capillary dysplasia with misalignment of pulmonary vessels" EXACT [Orphanet:210122]
synonym: "alveolar capillary dysplasia with pulmonary venous misalignment" RELATED [GARD:0008644]
synonym: "congenital alveolar capillary dysplasia" EXACT [GARD:0008644, MESH:C536590]
synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [DOID:13042]
synonym: "familial persistent pulmonary hypertension of the newborn" RELATED [GARD:0008644]
synonym: "fetal circulation" EXACT [DOID:13042]
synonym: "foetal circulation" EXACT OMO:0003005 []
synonym: "persistent fetal circulation" RELATED [DOID:13042, ICD9CM:747.83]
synonym: "persistent fetal circulation syndrome" RELATED EXCLUDE [DOID:13042]
synonym: "persistent foetal circulation" RELATED OMO:0003005 []
synonym: "persistent foetal circulation syndrome" RELATED OMO:0003005 []
synonym: "persistent pulmonary hypertension of the newborn" RELATED [DOID:13042]
synonym: "pulmonary hypertension, familial persistent of the newborn" RELATED [GARD:0008644]
xref: DOID:13042 {source="EFO:1001103", source="MONDO:equivalentTo"}
xref: GARD:8644 {source="MONDO:GARD"}
xref: ICD10CM:P29.3 {source="DOID:13042", source="EFO:1001103"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:747.83 {source="DOID:13042"}
xref: MedDRA:10054726 {source="EFO:1001103"}
xref: MEDGEN:755478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536590 {source="MONDO:equivalentTo"}
xref: MESH:D010547 {source="DOID:13042", source="EFO:1001103"}
xref: NCIT:C85006 {source="MONDO:relatedTo", source="DOID:13042", source="EFO:1001103"}
xref: NCIT:C98809 {source="MONDO:equivalentTo"}
xref: NORD:759 {source="MONDO:NORD"}
xref: OMIM:265380 {source="Orphanet:210122", source="DOID:13042", source="MONDO:equivalentTo", source="Orphanet:210122/e", source="GARD:0008644"}
xref: Orphanet:210122 {source="OMIM:265380", source="MONDO:equivalentTo", source="GARD:0008644"}
xref: SCTID:204507004 {source="DOID:13042"}
xref: SCTID:206597007 {source="DOID:13042"}
xref: SCTID:233815004 {source="MONDO:relatedTo", source="DOID:13042"}
xref: SCTID:35604006 {source="DOID:13042", source="EFO:1001103"}
xref: SCTID:447275002 {source="MONDO:equivalentTo", source="GARD:0008644"}
xref: UMLS:C2960310 {source="MEDGEN:755478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017015 {source="Orphanet:210122"} ! primary interstitial lung disease specific to childhood
is_a: MONDO:0020295 {source="https://orcid.org/0000-0002-6601-2165"} ! congenital pulmonary veins anomaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3809 {source="MONDO:mim2gene_medgen"} ! FOXF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia" xsd:anyURI {source="GARD:0008644"}

[Term]
id: MONDO:0009935
name: pulmonary hypertension, primary, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "pulmonary hypertension, primary, autosomal recessive" EXACT [OMIM:265400]
xref: MEDGEN:1802382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564862 {source="MONDO:equivalentTo"}
xref: OMIM:265400 {source="MONDO:equivalentTo"}
xref: Orphanet:422 {source="OMIM:265400"}
xref: UMLS:C5676877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802382"}
is_a: MONDO:0001999 {source="MONDO:Redundant", source="OMIM:265400"} ! primary pulmonary hypertension
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0009936
name: familial primary pulmonary hypoplasia
def: "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." [Orphanet:2257]
subset: gard_rare {source="GARD:16591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2257"}
subset: ordo_malformation_syndrome {source="Orphanet:2257"}
subset: orphanet_rare {source="Orphanet:2257"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung agenesis" RELATED [OMIM:265430]
synonym: "primary pulmonary hypoplasia" RELATED [Orphanet:2257]
synonym: "pulmonary hypoplasia, primary" RELATED [OMIM:265430]
xref: GARD:16591 {source="MONDO:GARD"}
xref: ICD10CM:Q33.6 {source="Orphanet:2257/attributed", source="Orphanet:2257/ntbt", source="Orphanet:2257"}
xref: icd11.foundation:1778475393 {source="Orphanet:2257", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:748.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:141589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:265430 {source="Orphanet:2257", source="MONDO:equivalentTo", source="Orphanet:2257/e"}
xref: Orphanet:2257 {source="MONDO:equivalentTo", source="OMIM:265430"}
xref: SCTID:277656005 {source="MONDO:equivalentTo"}
xref: UMLS:C0456891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141589"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:2257", source="Orphanet:2257/inferred"} ! respiratory system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0009937
name: pulmonary venoocclusive disease
def: "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." [NCIT:C85039]
subset: gard_rare {source="GARD:10153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31837"}
subset: orphanet_rare {source="Orphanet:31837"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "obstructive disease of the pulmonary veins" RELATED [GARD:0010153]
synonym: "pulmonary capillary hemangiomatosis" EXACT [https://orcid.org/0000-0003-0113-912X]
synonym: "pulmonary veno-occlusive disease" EXACT [DOID:5453]
synonym: "PVOD" EXACT ABBREVIATION [OMIM:265450]
xref: DOID:5453 {source="MONDO:equivalentTo"}
xref: GARD:10153 {source="MONDO:GARD"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10037458 {source="Orphanet:31837/e", source="Orphanet:31837"}
xref: MEDGEN:18769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011668 {source="DOID:5453", source="Orphanet:31837/e", source="MONDO:equivalentTo", source="Orphanet:31837"}
xref: NANDO:1200427 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85039 {source="DOID:5453", source="MONDO:equivalentTo"}
xref: OMIMPS:265450 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:31837 {source="OMIM:265450", source="MONDO:equivalentTo"}
xref: SCTID:89420002 {source="DOID:5453", source="MONDO:equivalentTo"}
xref: UMLS:C0034091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18769"}
is_a: MONDO:0005275 {source="https://orcid.org/0000-0001-5208-3432"} ! lung disorder
is_a: MONDO:0005385 {source="NCIT:C85039"} ! vascular disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0018554 {source="Orphanet:31837", source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:265450"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease" xsd:anyURI {source="GARD:0010153"}

[Term]
id: MONDO:0009938
name: pulmonic stenosis
subset: gard_rare {source="GARD:10071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "pulmonary stenosis" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "pulmonic stenosis" EXACT [MONDO:ambiguous, OMIM:265500]
synonym: "pulmonic stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "valvular pulmonic stenosis" RELATED [GARD:0010071]
xref: GARD:10071 {source="MONDO:GARD"}
xref: HP:0001642 {source="MONDO:otherHierarchy"}
xref: MEDGEN:408291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:265500 {source="MONDO:equivalentTo"}
xref: Orphanet:3189 {source="OMIM:265500"}
xref: UMLS:C1956257 {source="MEDGEN:408291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0017865 {source="Orphanet:3189/btnt"} ! congenital pulmonary valve stenosis
property_value: IAO:0000589 "pulmonic stenosis (disease)" xsd:string

[Term]
id: MONDO:0009939
name: pulmonic stenosis and congenital nephrosis
synonym: "pulmonic stenosis and congenital nephrosis" EXACT [OMIM:265600]
xref: MEDGEN:96044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562895 {source="MONDO:equivalentTo"}
xref: OMIM:265600 {source="MONDO:equivalentTo"}
xref: SCTID:236530006 {source="MONDO:equivalentTo"}
xref: UMLS:C0403552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96044"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009940
name: pycnodysostosis
def: "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." [https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1637"}
subset: ordo_disorder {source="Orphanet:763"}
subset: orphanet_rare {source="Orphanet:763"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PKND" RELATED ABBREVIATION [GARD:0004611]
synonym: "Pycd" RELATED [OMIM:265800]
synonym: "pycnodysostosis" EXACT [OMIM:265800]
synonym: "Pyknodysostosis" EXACT [OMIM:265800, Orphanet:763]
xref: DOID:0080038 {source="MONDO:equivalentTo"}
xref: GARD:4611 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:763", source="Orphanet:763/attributed", source="Orphanet:763/ntbt"}
xref: MEDGEN:116061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058631 {source="Orphanet:763", source="MONDO:equivalentTo", source="Orphanet:763/e"}
xref: NANDO:2201023 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131187 {source="MONDO:equivalentTo"}
xref: NORD:1637 {source="MONDO:NORD"}
xref: OMIM:265800 {source="Orphanet:763", source="MONDO:equivalentTo", source="Orphanet:763/e"}
xref: Orphanet:763 {source="MONDO:equivalentTo", source="OMIM:265800"}
xref: SCTID:89647000 {source="MONDO:equivalentTo"}
xref: UMLS:C0238402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116061"}
is_a: MONDO:0002561 {source="MESH:D058631", source="Orphanet:763"} ! lysosomal storage disease
is_a: MONDO:0005516 {source="DOID:0080038", source="MESH:D058631"} ! osteochondrodysplasia
is_a: MONDO:0017198 {source="Orphanet:763", source="PMID:31633310"} ! osteopetrosis
relationship: disease_has_feature HP:0003510 ! Severe short stature
relationship: disease_has_feature HP:0011002 ! Osteopetrosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2536 {source="MONDO:mim2gene_medgen"} ! CTSK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis" xsd:anyURI {source="GARD:0004611"}

[Term]
id: MONDO:0009941
name: obsolete Pygmy
xref: OMIM:265850 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7092" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7093" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0009942
name: pyknoachondrogenesis
def: "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." [Orphanet:3003]
subset: gard_rare {source="GARD:4610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3003"}
subset: ordo_malformation_syndrome {source="Orphanet:3003"}
subset: orphanet_rare {source="Orphanet:3003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "association of skeletal defects resembling achondrogenesis with generalised bone sclerosis" RELATED OMO:0003005 []
synonym: "association of skeletal defects resembling achondrogenesis with generalized bone sclerosis" RELATED [GARD:0004610]
synonym: "camera syndrome" EXACT [Orphanet:3003]
synonym: "pyknoachondrogenesis" EXACT [OMIM:265880]
xref: GARD:4610 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:3003/attributed", source="Orphanet:3003/ntbt", source="Orphanet:3003"}
xref: MEDGEN:337844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536251 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"}
xref: OMIM:265880 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"}
xref: Orphanet:3003 {source="MONDO:equivalentTo", source="OMIM:265880"}
xref: SCTID:719258003 {source="MONDO:equivalentTo"}
xref: UMLS:C1849523 {source="MONDO:equivalentTo", source="MEDGEN:337844", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="PMID:3791681", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="PMID:3791681", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis" xsd:anyURI {source="GARD:0004610"}

[Term]
id: MONDO:0009943
name: Pyle disease
def: "A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." [https://orcid.org/0000-0001-5208-3432, Orphanet:3005]
subset: gard_rare {source="GARD:4612", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3005"}
subset: orphanet_rare {source="Orphanet:3005"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bakwin-Krida syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia]
synonym: "chondrodysplasia calcificans metaphysealis" EXACT [OMIM:215050]
synonym: "metaphyseal dysplasia" BROAD [MONDO:0000841, OMIM:265900]
synonym: "metaphyseal dysplasia Pyle type" RELATED [GARD:0004612]
synonym: "metaphyseal dysplasia, Pyle type" EXACT [Orphanet:3005]
synonym: "Pyl" RELATED [OMIM:265900]
synonym: "Pyle disease" EXACT [OMIM:265900]
synonym: "Pyle's disease" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia]
synonym: "Pyle's syndrome" EXACT [Wikipedia:Metaphyseal_dysplasia]
synonym: "Pyle-Cohn syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia]
xref: DOID:0080019 {source="MONDO:equivalentTo"}
xref: GARD:4612 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:3005/inclusion", source="Orphanet:3005/ntbt", source="Orphanet:3005", source="MONDO:equivalentTo"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536252 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"}
xref: NANDO:2201367 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:265900 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"}
xref: Orphanet:3005 {source="MONDO:equivalentTo", source="OMIM:265900"}
xref: SCTID:27837003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82704"}
is_a: MONDO:0005516 {source="DOID:0080019"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="Orphanet:3005", source="PMID:31633310"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:3005"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:3005", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10778 {source="MONDO:mim2gene_medgen"} ! SFRP4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009944
name: pyloric atresia
synonym: "pyloric atresia" EXACT [OMIM:265950]
xref: ICD9:750.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562561 {source="MONDO:equivalentTo"}
xref: OMIM:265950 {source="MONDO:equivalentTo"}
xref: SCTID:27729002 {source="MONDO:equivalentTo"}
xref: UMLS:C0266159 {source="MEDGEN:75601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009945
name: pyridoxine-dependent epilepsy
def: "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." [Orphanet:3006]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9298", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1639", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3006"}
subset: orphanet_rare {source="Orphanet:3006"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AASA dehydrogenase deficiency" RELATED [OMIM:266100]
synonym: "antiquitin deficiency" EXACT [Orphanet:3006]
synonym: "EPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266100]
synonym: "Epd" RELATED [OMIM:266100]
synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical, OMIM:266100]
synonym: "pyridoxine dependency" RELATED [GARD:0009298]
synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100]
synonym: "pyridoxine-dependent epilepsy" EXACT CLINGEN_LABEL [OMIM:266100]
synonym: "vitamin B6-dependent seizures" EXACT [Orphanet:3006]
xref: DOID:0080768 {source="MONDO:equivalentTo"}
xref: GARD:9298 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:3006", source="Orphanet:3006/e", source="Orphanet:3006/specific"}
xref: MEDGEN:340341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536254 {source="Orphanet:3006", source="MONDO:equivalentTo", source="Orphanet:3006/e"}
xref: NORD:1639 {source="MONDO:NORD"}
xref: Orphanet:3006 {source="MONDO:equivalentTo", source="OMIM:266100"}
xref: SCTID:734434007 {source="MONDO:equivalentTo"}
xref: UMLS:C1849508 {source="MONDO:equivalentTo", source="MEDGEN:340341", source="MONDO:MEDGEN"}
is_a: MONDO:0019237 {source="Orphanet:3006"} ! inborn disorder of pyridoxine metabolism
is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy" xsd:anyURI {source="GARD:0009298"}

[Term]
id: MONDO:0009946
name: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
def: "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." [Orphanet:35120]
subset: gard_rare {source="GARD:16635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35120"}
subset: orphanet_rare {source="Orphanet:35120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, hemolytic, due to UMPH1 deficiency" EXACT [OMIM:266120, OMIM:genemap2]
synonym: "hemolytic Anaemia due to P5N deficiency" RELATED OMO:0003005 []
synonym: "hemolytic Anaemia due to Umph1 deficiency" RELATED OMO:0003005 []
synonym: "hemolytic Anemia due to P5N deficiency" RELATED [OMIM:266120]
synonym: "hemolytic Anemia due to Umph1 deficiency" RELATED [OMIM:266120]
synonym: "P5N deficiency" EXACT [OMIM:266120, Orphanet:35120]
synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to" RELATED OMO:0003005 []
synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to" RELATED [OMIM:266120]
synonym: "UMPH1 deficiency" EXACT [Orphanet:35120]
synonym: "Umph1 deficiency" RELATED [OMIM:266120]
synonym: "uridine 5'-monophosphate hydrolase deficiency" EXACT [Orphanet:35120]
synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to" RELATED OMO:0003005 []
synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" RELATED [OMIM:266120]
xref: GARD:16635 {source="MONDO:GARD"}
xref: ICD10CM:D55.3 {source="Orphanet:35120", source="Orphanet:35120/attributed", source="Orphanet:35120/ntbt"}
xref: MEDGEN:341470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564859 {source="MONDO:equivalentTo"}
xref: OMIM:266120 {source="MONDO:equivalentTo", source="Orphanet:35120", source="Orphanet:35120/e"}
xref: Orphanet:35120 {source="OMIM:266120", source="MONDO:equivalentTo"}
xref: UMLS:C1849507 {source="MEDGEN:341470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="Orphanet:35120"} ! hemolytic anemia
is_a: MONDO:0019238 {source="Orphanet:35120"} ! inborn disorder of pyrimidine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17820 {source="MONDO:mim2gene_medgen"} ! NT5C3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009947
name: glutathione synthetase deficiency with 5-oxoprolinuria
subset: gard_rare {source="GARD:17330", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:289846"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5-oxoprolinuria" RELATED [OMIM:266130]
synonym: "glutathione synthetase deficiency" RELATED [MONDO:Lexical, OMIM:266130]
synonym: "GSSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266130]
synonym: "pyroglutamic aciduria" RELATED [OMIM:266130]
xref: DOID:0081034 {source="MONDO:equivalentTo"}
xref: GARD:17330 {source="MONDO:GARD"}
xref: ICD10CM:D55.1 {source="Orphanet:289846", source="Orphanet:289846/attributed", source="Orphanet:289846/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:266130 {source="MONDO:equivalentTo", source="Orphanet:289846", source="Orphanet:289846/e"}
xref: Orphanet:289846 {source="OMIM:266130", source="MONDO:equivalentTo"}
xref: Orphanet:32 {source="OMIM:266130"}
xref: SCTID:39112005 {source="MONDO:equivalentTo"}
xref: UMLS:C0398746 {source="MEDGEN:97988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017909 {source="Orphanet:289846"} ! inherited glutathione synthetase deficiency
is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4624 {source="MONDO:mim2gene_medgen"} ! GSS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009948
name: pyropoikilocytosis, hereditary
def: "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency." [NCIT:C98943]
subset: gard_rare {source="GARD:4619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary pyropoikilocytosis" RELATED [GARD:0004619]
synonym: "HPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266140]
synonym: "Hypophosphatasia" EXACT [NORD:1276]
synonym: "pyropoikilocytosis" EXACT [OMIM:266140, OMIM:genemap2]
synonym: "pyropoikilocytosis hereditary" RELATED [GARD:0004619]
synonym: "pyropoikilocytosis, hereditary" EXACT [MONDO:Lexical, OMIM:266140]
xref: GARD:4619 {source="MONDO:GARD"}
xref: ICD9:790.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:141708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563004 {source="MONDO:equivalentTo"}
xref: NANDO:2200631 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98943 {source="MONDO:equivalentTo"}
xref: NORD:1276 {source="MONDO:NORD"}
xref: OMIM:266140 {source="MONDO:equivalentTo"}
xref: Orphanet:98867 {source="OMIM:266140", source="MONDO:equivalentObsolete"}
xref: SCTID:9434008 {source="MONDO:equivalentTo"}
xref: UMLS:C0520739 {source="MONDO:equivalentTo", source="MEDGEN:141708", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563004/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 {source="MONDO:mim2gene_medgen"} ! SPTA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary" xsd:anyURI {source="GARD:0004619"}

[Term]
id: MONDO:0009949
name: pyruvate carboxylase deficiency disease
def: "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." [Orphanet:3008]
subset: gard_rare {source="GARD:7512", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3008"}
subset: orphanet_rare {source="Orphanet:3008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia with lactic acidosis 2" RELATED [OMIM:266150]
synonym: "ataxia with lactic acidosis type 2" EXACT [Orphanet:3008]
synonym: "ataxia with lactic acidosis type II" EXACT [Orphanet:3008]
synonym: "deficiency of pyruvic carboxylase" EXACT [DOID:3651]
synonym: "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" EXACT [Orphanet:3008]
synonym: "Leigh syndrome due to PC deficiency" EXACT [Orphanet:3008]
synonym: "Leigh syndrome due to pyruvate carboxylase deficiency" EXACT [OMIM:266150, Orphanet:3008]
synonym: "Pc deficiency" RELATED [OMIM:266150]
synonym: "pyruvate carboxylase deficiency" RELATED [OMIM:266150]
synonym: "pyruvate carboxylase deficiency disease" EXACT CLINGEN_LABEL []
xref: DOID:3651 {source="EFO:1001142", source="MONDO:equivalentTo"}
xref: EFO:1001142 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7512 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="DOID:3651", source="Orphanet:3008/inclusion", source="Orphanet:3008", source="Orphanet:3008/ntbt"}
xref: icd11.foundation:2047948460 {source="MONDO:equivalentTo", source="Orphanet:3008", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015324 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo", source="Orphanet:3008", source="Orphanet:3008/e"}
xref: NANDO:2200519 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85040 {source="DOID:3651", source="EFO:1001142", source="MONDO:equivalentTo"}
xref: OMIM:266150 {source="DOID:3651", source="MONDO:equivalentTo", source="Orphanet:3008", source="Orphanet:3008/e"}
xref: Orphanet:3008 {source="OMIM:266150", source="MONDO:equivalentTo"}
xref: SCTID:124716008 {source="DOID:3651"}
xref: SCTID:87694001 {source="DOID:3651", source="MONDO:equivalentTo"}
xref: UMLS:C0034341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18801"}
is_a: MONDO:0019225 {source="Orphanet:3008", source="PMID:33340416"} ! disorder of gluconeogenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8636 {source="MONDO:mim2gene_medgen"} ! PC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009950
name: pyruvate kinase deficiency of red cells
def: "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." [Orphanet:766]
subset: gard_rare {source="GARD:7514", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1642"}
subset: ordo_disorder {source="Orphanet:766"}
subset: orphanet_rare {source="Orphanet:766"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemolytic Anaemia due to pyruvate Kinase deficiency" EXACT OMO:0003005 []
synonym: "hemolytic anaemia due to red cell pyruvate kinase deficiency" EXACT OMO:0003005 []
synonym: "hemolytic Anemia due to pyruvate Kinase deficiency" EXACT [NCIT:C99037]
synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [DOID:0111077]
synonym: "PK deficiency" EXACT [DOID:0111077]
synonym: "Pk deficiency" RELATED [OMIM:266200]
synonym: "Pyruvate Kinase Deficiency" EXACT [NORD:1642]
synonym: "pyruvate kinase deficiency" RELATED [GARD:0007514]
synonym: "pyruvate kinase deficiency of erythrocyte" EXACT [DOID:0111077, OMIM:266200]
synonym: "pyruvate kinase deficiency of erythrocytes" EXACT [Orphanet:766]
synonym: "pyruvate kinase deficiency of red cells" EXACT [OMIM:266200]
xref: DOID:0111077 {source="MONDO:equivalentTo"}
xref: GARD:7514 {source="MONDO:GARD"}
xref: ICD10CM:D55.2 {source="Orphanet:766/inclusion", source="Orphanet:766", source="Orphanet:766/ntbt"}
xref: MEDGEN:473069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564858 {source="MONDO:equivalentTo"}
xref: NANDO:2200628 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99037 {source="MONDO:equivalentTo"}
xref: NORD:1642 {source="MONDO:NORD"}
xref: OMIM:266200 {source="Orphanet:766", source="MONDO:equivalentTo", source="Orphanet:766/e", source="DOID:0111077"}
xref: Orphanet:766 {source="MONDO:equivalentTo", source="OMIM:266200", source="DOID:0111077"}
xref: SCTID:124331002 {source="MONDO:equivalentTo"}
xref: UMLS:C0340968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473069"}
is_a: MONDO:0003664 ! hemolytic anemia
is_a: MONDO:0006506 {source="DOID:0111077", source="MESH:C564858"} ! congenital nonspherocytic hemolytic anemia
is_a: MONDO:0016789 {source="Orphanet:766"} ! pyruvate metabolism disorder
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
is_a: MONDO:0019052 {source="MESH:C564858/inferred", source="NCIT:C99037", source="Orphanet:766/inferred"} ! inborn errors of metabolism
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9020 {source="MONDO:mim2gene_medgen"} ! PKLR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0009951
name: radiculoneuropathy, fatal neonatal
synonym: "Radiculoneuropathy, fatal neonatal" EXACT [OMIM:266250]
xref: MEDGEN:376592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564857 {source="MONDO:equivalentTo"}
xref: OMIM:266250 {source="MONDO:equivalentTo"}
xref: UMLS:C1849471 {source="MEDGEN:376592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009952
name: radioulnar synostosis-developmental delay-hypotonia syndrome
def: "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)." [Orphanet:3270]
subset: gard_rare {source="GARD:1810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3270"}
subset: ordo_malformation_syndrome {source="Orphanet:3270"}
subset: orphanet_rare {source="Orphanet:3270"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "der Kaloustian mcintosh silver syndrome" RELATED []
synonym: "Der Kaloustian-McIntosh-Silver syndrome" EXACT [Orphanet:3270]
synonym: "radioulnar synostosis with developmental delay and hypotonia syndrome" EXACT []
synonym: "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia" RELATED [OMIM:266255]
synonym: "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" RELATED DEPRECATED [OMIM:266255]
synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED OMO:0003005 []
synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance" RELATED OMO:0003005 []
synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED [GARD:0001810]
synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" RELATED DEPRECATED [GARD:0001810]
xref: GARD:1810 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3270/attributed", source="Orphanet:3270/ntbt", source="Orphanet:3270"}
xref: MEDGEN:341460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538217 {source="MONDO:equivalentTo"}
xref: MESH:C564856 {source="MONDO:equivalentTo"}
xref: OMIM:266255 {source="Orphanet:3270/e", source="GARD:0001810", source="MONDO:equivalentTo", source="Orphanet:3270"}
xref: Orphanet:3270 {source="MONDO:equivalentTo", source="OMIM:266255"}
xref: SCTID:721883006 {source="MONDO:equivalentTo"}
xref: UMLS:C1849470 {source="MEDGEN:341460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001411 {source="MESH:C538217", source="MESH:C564856"} ! synostosis
is_a: MONDO:0005287 {source="MESH:C538217", source="MESH:C564856"} ! developmental disability
is_a: MONDO:0015159 {source="Orphanet:3270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017985 ! congenital radioulnar synostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3270", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome" xsd:anyURI {source="GARD:0001810"}

[Term]
id: MONDO:0009953
name: leukocyte adhesion deficiency type II
def: "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." [Orphanet:99843]
subset: gard_rare {source="GARD:4634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99843"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDG 2C" RELATED [GARD:0004634]
synonym: "CDG IIc" EXACT [DOID:0070255]
synonym: "CDG syndrome type IIc" EXACT [Orphanet:99843]
synonym: "CDG-IIc" EXACT [Orphanet:99843]
synonym: "CDG2C" EXACT ABBREVIATION [DOID:0070255, MONDO:Lexical, OMIM:266265, Orphanet:99843]
synonym: "CDGIIc" EXACT [DOID:0070255]
synonym: "congenital disorder of glycosylation type IIC" RELATED [GARD:0004634]
synonym: "congenital disorder of glycosylation, type IIc" RELATED [MONDO:Lexical, OMIM:266265]
synonym: "lad-II" EXACT [Orphanet:99843]
synonym: "lad-type II" EXACT [NCIT:C4690]
synonym: "LAD2" EXACT ABBREVIATION [DOID:0070255, GARD:0004634]
synonym: "leukocyte adhesion deficiency type 2" EXACT [NCIT:C4690]
synonym: "leukocyte adhesion deficiency type II" EXACT CLINGEN_LABEL []
synonym: "leukocyte adhesion deficiency, type 2" RELATED [OMIM:266265]
synonym: "leukocyte adhesion deficiency, type II" EXACT [DOID:0070255]
synonym: "Rambam-Hasharon syndrome" EXACT [DOID:0070255, OMIM:266265, Orphanet:99843]
synonym: "RHS" EXACT ABBREVIATION [DOID:0070255]
synonym: "sialyl-Lewis X defect" EXACT [NCIT:C4690]
synonym: "SLC35C1-CDG" EXACT [Orphanet:99843]
synonym: "SLC35C1-CDG (CDG-IIc)" RELATED [GARD:0004634]
xref: DOID:0070255 {source="MONDO:equivalentTo"}
xref: DOID:0080492 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:4634 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:99843", source="Orphanet:99843/attributed", source="Orphanet:99843/ntbt"}
xref: MEDGEN:96022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535755 {source="MONDO:equivalentTo"}
xref: NCIT:C4690 {source="MONDO:equivalentTo"}
xref: OMIM:266265 {source="Orphanet:99843", source="DOID:0070255", source="MONDO:equivalentTo", source="Orphanet:99843/e"}
xref: Orphanet:2968 {source="OMIM:266265"}
xref: Orphanet:99843 {source="DOID:0070255", source="MONDO:equivalentTo", source="OMIM:266265"}
xref: SCTID:234583001 {source="MONDO:equivalentTo"}
xref: UMLS:C0398739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96022"}
is_a: MONDO:0005501 {source="DC-OMIM:266265", source="DOID:0070255", source="OMIM:266265"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0017570 {source="NCIT:C4690", source="Orphanet:99843"} ! leukocyte adhesion deficiency
is_a: MONDO:0017749 {source="Orphanet:99843"} ! disorder of multiple glycosylation
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:266265", source="Orphanet:99843"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20197 {source="MONDO:mim2gene_medgen"} ! SLC35C1

[Term]
id: MONDO:0009954
name: Ramon syndrome
subset: gard_rare {source="GARD:7523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3019"}
subset: ordo_malformation_syndrome {source="Orphanet:3019"}
subset: orphanet_rare {source="Orphanet:3019"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth" RELATED [OMIM:266270]
synonym: "cherubism-gingival fibromatosis-intellectual disability syndrome" EXACT [Orphanet:3019]
synonym: "gingival fibromatosis combined with cherubism" RELATED [GARD:0007523]
synonym: "Ramon syndrome" EXACT [OMIM:266270]
xref: GARD:7523 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3019", source="Orphanet:3019/attributed", source="Orphanet:3019/ntbt"}
xref: MEDGEN:208669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535285 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"}
xref: OMIM:266270 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"}
xref: Orphanet:3019 {source="OMIM:266270", source="MONDO:equivalentTo"}
xref: UMLS:C0796133 {source="MEDGEN:208669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="GARD:0007523"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="OMIM:266270"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0015336 {source="Orphanet:3019", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformation syndrome with odontal and/or periodontal component
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:3019", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome" xsd:anyURI {source="GARD:0007523"}

[Term]
id: MONDO:0009955
name: rapadilino syndrome
def: "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." [Orphanet:3021]
subset: gard_rare {source="GARD:4637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3021"}
subset: ordo_malformation_syndrome {source="Orphanet:3021"}
subset: orphanet_rare {source="Orphanet:3021"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate" RELATED [GARD:0004637]
synonym: "radial and patellar aplasia" RELATED [GARD:0004637]
synonym: "radial and patellar hypoplasia" RELATED [GARD:0004637]
synonym: "rapadilino syndrome" EXACT [OMIM:266280]
xref: DOID:0050774 {source="MONDO:equivalentTo"}
xref: GARD:4637 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:3021/attributed", source="Orphanet:3021/ntbt", source="Orphanet:3021"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:336602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535288 {source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"}
xref: NANDO:1201058 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:266280 {source="DOID:0050774", source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"}
xref: Orphanet:3021 {source="MONDO:equivalentTo", source="OMIM:266280"}
xref: SCTID:702413000 {source="MONDO:equivalentTo"}
xref: UMLS:C1849453 {source="MEDGEN:336602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:0050774", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015161 {source="Orphanet:3021"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:266280", source="Orphanet:3021"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9949 {source="MONDO:mim2gene_medgen"} ! RECQL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome" xsd:anyURI {source="GARD:0004637"}

[Term]
id: MONDO:0009956
name: red skin pigment anomaly of new guinea
synonym: "red skin pigment anomaly of new guinea" EXACT [OMIM:266350]
synonym: "Red skin pigment, New Guinea type" RELATED [GARD:0009757]
xref: MEDGEN:341457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535515 {source="MONDO:equivalentTo"}
xref: OMIM:266350 {source="MONDO:equivalentTo"}
xref: UMLS:C1849451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341457"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9757/red-skin-pigment-anomaly-of-new-guinea" xsd:anyURI {source="GARD:0009757"}

[Term]
id: MONDO:0009957
name: Reese retinal dysplasia
synonym: "Reese retinal dysplasia" EXACT [OMIM:266400]
xref: MEDGEN:341456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564854 {source="MONDO:equivalentTo"}
xref: OMIM:266400 {source="MONDO:equivalentTo"}
xref: UMLS:C1849450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341456"}
is_a: MONDO:0003847 {source="MESH:C564854/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10566/reese-retinal-dysplasia" xsd:anyURI {source="GARD:0010566"}

[Term]
id: MONDO:0009958
name: adult Refsum disease
def: "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." [Orphanet:773]
comment: Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500
subset: gard_rare {source="GARD:5691", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1654"}
subset: ordo_disorder {source="Orphanet:773"}
subset: orphanet_rare {source="Orphanet:773"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult Refsum disease" EXACT CLINGEN_LABEL [MESH:D012035, NCIT:C85043, Orphanet:773]
synonym: "adult Refsum disease due to PHYH" EXACT [https://clinicalgenome.org/affiliation/40049/]
synonym: "classic Refsum disease" EXACT [MESH:D012035, NCIT:C85043, Orphanet:773]
synonym: "disorder of cornification 11 (phytanic acid type)" RELATED [GARD:0005691]
synonym: "DOC 11 (phytanic acid type)" RELATED [GARD:0005691]
synonym: "hereditary motor and sensory neuropathy 4" EXACT [NCIT:C85043, OMIM:266500]
synonym: "hereditary motor and sensory neuropathy type 4" EXACT [Orphanet:773]
synonym: "hereditary sensory and motor neuropathy type 4" EXACT [GARD:0005691, NCIT:C85043]
synonym: "heredopathia atactica polyneuritiformis" EXACT [DOID:10582, GARD:0005691, ICD9CM:356.3, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773, SCTID:25362006]
synonym: "HMSN 4" EXACT [GARD:0005691, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773]
synonym: "HMSN type IV" EXACT [DOID:10582, MESH:D012035, NCIT:C85043]
synonym: "HSMN IV" EXACT [DOID:10582, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773, SCTID:25362006]
synonym: "hypertrophic neuropathy of Refsum" EXACT [GARD:0005691, NCIT:C85043]
synonym: "phytanic acid oxidase deficiency" EXACT [GARD:0005691, MESH:D012035, NCIT:C85043, OMIM:266500]
synonym: "phytanic-CoA hydroxylase deficiency" EXACT [Orphanet:773]
synonym: "RDPA" RELATED ABBREVIATION [GARD:0004371]
synonym: "Refsum Disease" EXACT [NORD:1654]
synonym: "Refsum disease" EXACT [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24, NCIT:C85043, Orphanet:773, SCTID:25362006]
synonym: "Refsum disease with increased pipecolic acidemia" RELATED [MESH:C535517, MONDO:0043181, OMIM:266500]
synonym: "Refsum disease, adult, 1" EXACT [OMIM:266500]
synonym: "Refsum disease, classic" EXACT [MESH:D012035, OMIM:266500]
synonym: "Refsum's disease" EXACT [DOID:10582, ICD9CM:356.3, MESH:D012035, NCIT:C85043, SCTID:25362006]
xref: DOID:10582 {source="MONDO:equivalentTo"}
xref: GARD:5691 {source="MONDO:GARD"}
xref: ICD10CM:G60.1 {source="Orphanet:773/specific", source="Orphanet:773/e", source="MONDO:equivalentTo", source="DOID:10582", source="Orphanet:773"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9CM:356.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10582"}
xref: MedDRA:10038275 {source="Orphanet:773/e", source="NCIT:C85043", source="Orphanet:773"}
xref: MEDGEN:11161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535517 {source="MONDO:relatedTo"}
xref: MESH:D012035 {source="Orphanet:773/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:10582", source="Orphanet:773"}
xref: NANDO:1200769 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200577 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85043 {source="DOID:10582"}
xref: NORD:1654 {source="MONDO:NORD"}
xref: OMIM:266500 {source="Orphanet:773/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:10582", source="Orphanet:773"}
xref: OMIM:600964 {source="MONDO:equivalentObsolete", source="GARD:0004371"}
xref: Orphanet:773 {source="MONDO:equivalentTo", source="OMIM:266500"}
xref: SCTID:25362006 {source="MONDO:equivalentTo", source="DOID:10582"}
xref: UMLS:C0034960 {source="MEDGEN:11161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100258 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! phytanoyl-CoA hydroxylase deficiency
relationship: disease_has_major_feature HP:0002352 {source="https://clinicalgenome.org/affiliation/40049/", source="https://orcid.org/0000-0002-2796-282X"} ! Leukoencephalopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0017265 {source="https://github.com/monarch-initiative/mondo/issues/3306", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-2796-282X"} ! autosomal recessive congenital ichthyosis
relationship: excluded_subClassOf MONDO:0017272 {source="Orphanet:773", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal ichthyosis syndrome with prominent neurologics signs
relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:773", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation
relationship: excluded_subClassOf MONDO:0019046 {source="Orphanet:773", source="https://orcid.org/0000-0001-5208-3432", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
relationship: excluded_subClassOf MONDO:0020044 {source="Orphanet:773", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive metabolic cerebellar ataxia
relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy
relationship: excluded_subClassOf MONDO:0020228 {source="Orphanet:773", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cataract associated with a metabolic disease
relationship: excluded_subClassOf MONDO:0020281 {source="Orphanet:773", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metabolic disease with pigmentary retinitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8940 {source="OMIM:266500"} ! PHYH
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5691/refsum-disease" xsd:anyURI {source="GARD:0005691"}

[Term]
id: MONDO:0009959
name: peroxisome biogenesis disorder type 3B
def: "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." [NCIT:P378]
subset: gard_rare {source="GARD:15226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile phytanic acid storage disease" EXACT [DOID:0050444]
synonym: "PBD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266510]
synonym: "peroxisome biogenesis disorder 3B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:266510]
synonym: "peroxisome biogenesis disorder type 3B" EXACT [MONDORULE:4, OMIM:266510]
xref: DOID:0081241 {source="MONDO:equivalentTo"}
xref: GARD:15226 {source="MONDO:GARD"}
xref: ICD10CM:G60.1 {source="DOID:0050444"}
xref: MEDGEN:763607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052919 {source="DOID:0050444"}
xref: NCIT:C84789 {source="DOID:0050444"}
xref: OMIM:266510 {source="DOID:0050444", source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:266510"}
xref: Orphanet:772 {source="OMIM:266510"}
xref: SCTID:238062008 {source="DOID:0050444"}
xref: UMLS:C3550693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763607"}
is_a: MONDO:0100266 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX12 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:266510", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8854 {source="MONDO:mim2gene_medgen"} ! PEX12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0009960
name: inflammatory bowel disease 1
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "Crohn disease" RELATED [OMIM:266600]
synonym: "crohn disease-associated growth failure" EXACT [OMIM:266600, OMIM:genemap2]
synonym: "Crohn disease-associated Growth failure, susceptibility to" RELATED [OMIM:266600]
synonym: "IBD1" EXACT ABBREVIATION [DOID:0110892, MONDO:Lexical, OMIM:266600]
synonym: "inflammatory bowel disease (Crohn disease) 1" RELATED [OMIM:266600]
synonym: "inflammatory bowel disease 1" EXACT [MONDO:Lexical, OMIM:266600]
synonym: "inflammatory bowel disease 1, Crohn disease" EXACT [OMIM:266600, OMIM:genemap2]
synonym: "inflammatory bowel disease caused by mutation in NOD2" EXACT []
synonym: "inflammatory bowel disease type 1" EXACT [DOID:0110892, MONDORULE:1, OMIM:266600]
synonym: "NOD2 inflammatory bowel disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "paediatric ulcerative colitis" RELATED OMO:0003005 []
synonym: "pediatric ulcerative colitis" RELATED [GARD:0009857]
synonym: "regional enteritis" RELATED [OMIM:266600]
synonym: "ulcerative colitis" RELATED [OMIM:266600]
synonym: "ulcerative colitis, paediatric" RELATED OMO:0003005 []
synonym: "ulcerative colitis, pediatric" RELATED [GARD:0009857]
xref: DOID:0110892 {source="MONDO:equivalentTo"}
xref: ICD9:555.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: OMIM:266600 {source="MONDO:equivalentTo", source="DOID:0110892"}
xref: Orphanet:206 {source="OMIM:266600"}
xref: Orphanet:771 {source="OMIM:266600"}
xref: SCTID:34000006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005265 {source="DOID:0110892", source="MONDO:Redundant", source="OMIM:266600"} ! inflammatory bowel disease
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5331 ! NOD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009961
name: renal and mullerian duct hypoplasia
synonym: "renal and mullerian duct hypoplasia" EXACT [OMIM:266810]
xref: MEDGEN:340326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564853 {source="MONDO:equivalentTo"}
xref: OMIM:266810 {source="MONDO:equivalentTo"}
xref: UMLS:C1849439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340326"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009962
name: Senior-Loken syndrome 1
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "juvenile nephronophthisis with Leber amaurosis" RELATED [OMIM:266900]
synonym: "Loken-Senior syndrome" RELATED [OMIM:266900]
synonym: "NPHP1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "renal dysplasia and retinal aplasia" RELATED [OMIM:266900]
synonym: "renal-retinal syndrome" RELATED [OMIM:266900]
synonym: "Senior-Loken syndrome" RELATED [OMIM:266900]
synonym: "SENIOR-Loken syndrome 1" RELATED [OMIM:266900]
synonym: "Senior-Loken syndrome 1" EXACT [MONDO:Lexical, OMIM:266900]
synonym: "Senior-Loken syndrome caused by mutation in NPHP1" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 1" EXACT [MONDORULE:1, OMIM:266900]
synonym: "senior-loken syndrome-1" EXACT [OMIM:266900, OMIM:genemap2]
synonym: "SLSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266900]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1639722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:266900 {source="MONDO:equivalentTo"}
xref: Orphanet:3156 {source="OMIM:266900"}
xref: SCTID:236531005 {source="MONDO:equivalentTo"}
xref: UMLS:C4551559 {source="MEDGEN:1639722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017842 {source="DC-OMIM:266900", source="MONDO:Redundant", source="OMIM:266900"} ! Senior-Loken syndrome
intersection_of: MONDO:0017842 ! Senior-Loken syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 ! NPHP1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:266900"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 {source="MONDO:mim2gene_medgen"} ! NPHP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009963
name: Ulbright-Hodes syndrome
def: "Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." [Orphanet:3404]
subset: gard_rare {source="GARD:5394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3404"}
subset: ordo_malformation_syndrome {source="Orphanet:3404"}
subset: orphanet_rare {source="Orphanet:3404"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "renal dysplasia limb defects syndrome" RELATED [GARD:0005394]
synonym: "renal dysplasia, mesomelia, and radiohumeral fusion" RELATED [GARD:0005394]
synonym: "renal dysplasia-limb defects syndrome" EXACT [OMIM:266910, Orphanet:3404]
synonym: "renal dysplasia-mesomelia-radiohumeral fusion syndrome" EXACT [Orphanet:3404]
synonym: "RL syndrome" RELATED [OMIM:266910]
synonym: "Ulbright Hodes syndrome" RELATED [GARD:0005394]
xref: GARD:5394 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3404", source="Orphanet:3404/attributed", source="Orphanet:3404/ntbt"}
xref: MEDGEN:376585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537754 {source="MONDO:equivalentTo"}
xref: OMIM:266910 {source="MONDO:equivalentTo", source="Orphanet:3404", source="Orphanet:3404/e"}
xref: Orphanet:3404 {source="MONDO:equivalentTo", source="OMIM:266910"}
xref: SCTID:719840003 {source="MONDO:equivalentTo"}
xref: UMLS:C1849438 {source="MEDGEN:376585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:3404"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3404", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0009964
name: short-rib thoracic dysplasia 9 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." [DOID:0110097, PMID:22503633]
subset: gard_rare {source="GARD:15227", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140969"}
subset: orphanet_rare {source="Orphanet:140969"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Conorenal syndrome" EXACT [OMIM:266920, Orphanet:140969]
synonym: "Mainzer Saldino syndrome" EXACT [GARD:0008600]
synonym: "Mainzer-Saldino syndrome" EXACT [OMIM:266920]
synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" EXACT [DOID:0110097]
synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia" RELATED [OMIM:266920]
synonym: "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome" EXACT [Orphanet:140969]
synonym: "Saldino-Mainzer syndrome" EXACT [MONDO:0015373]
synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:266920]
synonym: "SRTD9" EXACT ABBREVIATION [DOID:0110097, MONDO:Lexical, OMIM:266920]
xref: DOID:0110097 {source="MONDO:equivalentTo"}
xref: GARD:15227 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:140969", source="Orphanet:140969/attributed", source="Orphanet:140969/ntbt", source="DOID:0110097"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:341455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535463 {source="Orphanet:140969", source="Orphanet:140969/e"}
xref: OMIM:266920 {source="Orphanet:140969", source="Orphanet:140969/btnt", source="MONDO:equivalentTo", source="DOID:0110097"}
xref: Orphanet:140969 {source="MONDO:equivalentTo", source="OMIM:266920"}
xref: SCTID:254092004 {source="MONDO:equivalentTo"}
xref: UMLS:C1849437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341455"}
is_a: MONDO:0018770 {source="DOID:0110097", source="MONDO:Redundant", source="OMIM:266920"} ! Jeune syndrome
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
is_a: MONDO:0019695 {source="Orphanet:140969"} ! acromelic dysplasia
is_a: MONDO:0100509 {source="https://clinicalgenome.org/affiliation/40072/"} ! IFT140-related recessive ciliopathy
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:140969", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: excluded_subClassOf MONDO:0020240 {source="Orphanet:140969", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic retinitis pigmentosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29077 {source="MONDO:mim2gene_medgen"} ! IFT140
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0009965
name: Perlman syndrome
def: "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." [Orphanet:2849]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3936", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2849"}
subset: ordo_malformation_syndrome {source="Orphanet:2849"}
subset: orphanet_rare {source="Orphanet:2849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [DOID:0060476]
synonym: "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour" EXACT OMO:0003005 []
synonym: "nephroblastomatosis fetal ascites macrosomia and Wilms tumor" RELATED [GARD:0003936]
synonym: "nephroblastomatosis foetal ascites macrosomia and Wilms tumour" RELATED OMO:0003005 []
synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [DOID:0060476]
synonym: "nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor" RELATED [OMIM:267000]
synonym: "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour" EXACT OMO:0003005 []
synonym: "nephroblastomatosis, foetal ascites, macrosomia, and Wilms tumour" RELATED OMO:0003005 []
synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome" EXACT [Orphanet:2849]
synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome" EXACT OMO:0003005 []
synonym: "Perlman syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:267000]
synonym: "PRLMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267000]
synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [DOID:0060476]
synonym: "renal hamartomas, nephroblastomatosis and foetal gigantism" EXACT OMO:0003005 []
synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" RELATED [OMIM:267000]
synonym: "renal hamartomas, nephroblastomatosis, and foetal gigantism" RELATED OMO:0003005 []
xref: DOID:0060476 {source="MONDO:equivalentTo"}
xref: GARD:3936 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="DOID:0060476", source="Orphanet:2849/attributed", source="Orphanet:2849/ntbt", source="Orphanet:2849"}
xref: MEDGEN:162909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536399 {source="DOID:0060476", source="MONDO:equivalentTo"}
xref: NCIT:C103144 {source="MONDO:equivalentTo"}
xref: OMIM:267000 {source="Orphanet:2849/e", source="DOID:0060476", source="MONDO:equivalentTo", source="Orphanet:2849"}
xref: Orphanet:2849 {source="DOID:0060476", source="OMIM:267000", source="MONDO:equivalentTo"}
xref: SCTID:722231005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162909"}
is_a: MONDO:0002254 {source="DOID:0060476", source="MONDO:Redundant", source="NCIT:C103144"} ! syndromic disease
is_a: MONDO:0019716 {source="Orphanet:2849"} ! overgrowth syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28648 {source="MONDO:mim2gene_medgen"} ! DIS3L2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome" xsd:anyURI {source="GARD:0003936"}

[Term]
id: MONDO:0009966
name: NPHP3-related Meckel-like syndrome
subset: gard_rare {source="GARD:4665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3032"}
subset: ordo_malformation_syndrome {source="Orphanet:3032"}
subset: orphanet_rare {source="Orphanet:3032"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia" RELATED [GARD:0004665]
synonym: "Goldston syndrome" EXACT [Orphanet:3032]
synonym: "Meckel syndrome 7" RELATED [GARD:0004665]
synonym: "Meckel syndrome type 7" EXACT [Orphanet:3032]
synonym: "Meckel syndrome, type 7" RELATED [MONDO:Lexical, OMIM:267010]
synonym: "Meckel-Gruber syndrome, type 7" EXACT [DOID:0070121]
synonym: "Meckel-like syndrome type 1" EXACT [Orphanet:3032]
synonym: "MKS7" EXACT ABBREVIATION [DOID:0070121, MONDO:Lexical, OMIM:267010]
synonym: "NPHP3-related Meckel-like syndrome" EXACT [GARD:0004665]
synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" RELATED [OMIM:267010]
synonym: "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome" EXACT [GARD:0004665, Orphanet:3032]
xref: DOID:0070121 {source="MONDO:equivalentTo"}
xref: GARD:4665 {source="MONDO:GARD"}
xref: ICD10CM:Q61.9 {source="Orphanet:3032/attributed", source="Orphanet:3032/ntbt", source="Orphanet:3032"}
xref: MEDGEN:382217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537756 {source="MONDO:equivalentTo"}
xref: OMIM:267010 {source="DOID:0070121", source="GARD:0004665", source="Orphanet:3032/e", source="MONDO:equivalentTo", source="Orphanet:3032"}
xref: Orphanet:3032 {source="OMIM:267010", source="DOID:0070121", source="GARD:0004665", source="MONDO:equivalentTo"}
xref: PMID:18371931 {source="DOID:0070121"}
xref: UMLS:C2673885 {source="MEDGEN:382217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018921 {source="DC-OMIM:267010", source="DOID:0070121", source="OMIM:267010"} ! Meckel syndrome
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 {source="MONDO:mim2gene_medgen"} ! NPHP3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia" xsd:anyURI {source="GARD:0004665"}

[Term]
id: MONDO:0009967
name: renal tubular acidosis 3
subset: gard_rare {source="GARD:15228", source="MONDO:GARD"}
subset: rare
synonym: "bicarbonate-wasting RTA" RELATED [GARD:0004670]
synonym: "renal tubular acidosis 3" EXACT [MONDORULE:1, OMIM:267200]
synonym: "renal tubular acidosis III" EXACT [OMIM:267200]
synonym: "renal tubular acidosis, distal, type 3" RELATED [GARD:0004670]
synonym: "RTA, bicarbonate-wasting type" EXACT [OMIM:267200]
synonym: "RTA, dislocation type" EXACT [OMIM:267200]
xref: GARD:15228 {source="MONDO:GARD"}
xref: MEDGEN:336601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537759 {source="MONDO:equivalentTo"}
xref: OMIM:267200 {source="MONDO:equivalentTo"}
xref: Orphanet:2785 {source="OMIM:267200"}
xref: UMLS:C1849435 {source="MONDO:equivalentTo", source="MEDGEN:336601", source="MONDO:MEDGEN"}
is_a: MONDO:0001909 {source="DC-OMIM:267200", source="MESH:C537759"} ! renal tubular acidosis
relationship: excluded_subClassOf MONDO:0009818 {source="Orphanet:2785/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive osteopetrosis 3

[Term]
id: MONDO:0009968
name: renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15229", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR dRTA with deafness" RELATED [GARD:0004666]
synonym: "AR dRTA with hearing loss" RELATED [GARD:0004666]
synonym: "autosomal recessive distal renal tubular acidosis with deafness" RELATED [GARD:0004666]
synonym: "autosomal recessive distal renal tubular acidosis with hearing loss" RELATED [GARD:0004666]
synonym: "distal renal tubular acidosis 2 with progressive sensorineural hearing loss" EXACT [OMIM:267300, OMIM:genemap2]
synonym: "distal renal tubular acidosis co-occurrent with sensorineural deafness" EXACT []
synonym: "renal tubular acidosis progressive nerve deafness" RELATED [GARD:0004666]
synonym: "renal tubular acidosis type 1b" RELATED [GARD:0004666]
synonym: "renal tubular acidosis with deafness" RELATED [GARD:0004666]
synonym: "renal tubular acidosis with progressive nerve deafness" RELATED [OMIM:267300]
synonym: "renal tubular acidosis, autosomal recessive, with progressive nerve deafness" RELATED [OMIM:267300]
synonym: "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" EXACT CLINGEN_LABEL []
synonym: "renal tubular acidosis, distal, with progressive nerve deafness" EXACT [OMIM:267300]
synonym: "RTA with progressive nerve deafness" RELATED [OMIM:267300]
xref: GARD:15229 {source="MONDO:GARD"}
xref: ICD9:389.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562897 {source="MONDO:equivalentTo"}
xref: OMIM:267300 {source="MONDO:equivalentTo"}
xref: Orphanet:18 {source="OMIM:267300"}
xref: Orphanet:402041 {source="OMIM:267300"}
xref: Orphanet:93611 {source="MONDO:equivalentObsolete"}
xref: SCTID:236532003 {source="MONDO:equivalentTo"}
xref: SCTID:722468005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0403554 {source="MEDGEN:98336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015827 ! distal renal tubular acidosis
is_a: MONDO:0018440 {source="Orphanet:402041/btnt"} ! autosomal recessive distal renal tubular acidosis
relationship: disease_has_feature HP:0000407 ! Sensorineural hearing impairment
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/853 {source="MONDO:mim2gene_medgen"} ! ATP6V1B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0009969
name: renal-genital-middle ear anomalies
subset: gard_rare {source="GARD:4664", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1092"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "renal genital middle ear anomalies" RELATED [GARD:0004664]
synonym: "renal, genital, and middle EAR anomalies" RELATED [OMIM:267400]
xref: GARD:4664 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1092/attributed", source="Orphanet:1092/ntbt", source="Orphanet:1092"}
xref: MEDGEN:341454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564849 {source="MONDO:equivalentTo"}
xref: OMIM:267400 {source="Orphanet:1092/e", source="MONDO:equivalentTo", source="Orphanet:1092"}
xref: Orphanet:1092 {source="MONDO:equivalentObsolete", source="OMIM:267400"}
xref: UMLS:C1849432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341454"}
is_a: MONDO:0015161 {source="Orphanet:1092"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies" xsd:anyURI {source="GARD:0004664"}

[Term]
id: MONDO:0009970
name: renal tubular dysgenesis of genetic origin
def: "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16854", source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:97369"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97369"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic renal tubular dysgenesis" EXACT [MONDO:patterns/genetic]
synonym: "primitive renal tubule syndrome" RELATED [OMIM:267430]
synonym: "renal tubular dysgenesis" RELATED [MONDO:Lexical, OMIM:267430]
synonym: "renal tubular dysgenesis of genetic origin" EXACT CLINGEN_LABEL []
synonym: "renal tubular dysgenesis with choanal atresia and athelia" RELATED [OMIM:267430]
synonym: "RTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267430]
xref: GARD:16854 {source="MONDO:GARD"}
xref: ICD10CM:Q63.8 {source="Orphanet:97369/attributed", source="Orphanet:97369/ntbt", source="Orphanet:97369"}
xref: MEDGEN:1826125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:267430 {source="Orphanet:97369", source="MONDO:equivalentTo", source="Orphanet:97369/e"}
xref: Orphanet:3033 {source="OMIM:267430"}
xref: Orphanet:97369 {source="OMIM:267430", source="MONDO:equivalentTo"}
xref: UMLS:C5681536 {source="MEDGEN:1826125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:97369", source="Orphanet:97369/inferred"} ! kidney disorder
is_a: MONDO:0017609 {source="MONDO:Redundant", source="Orphanet:97369"} ! renal tubular dysgenesis
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:97369", source="Orphanet:97369/inferred"} ! disorder of development or morphogenesis
intersection_of: MONDO:0017609 ! renal tubular dysgenesis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare

[Term]
id: MONDO:0009971
name: respiratory distress syndrome in premature infants
def: "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." [Orphanet:70587]
subset: gard_rare {source="GARD:112", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1659"}
subset: ordo_disorder {source="Orphanet:70587"}
subset: orphanet_rare {source="Orphanet:70587"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyaline Membrane disease" RELATED [OMIM:267450]
synonym: "hyaline Membrane disease, formerly" RELATED [OMIM:267450]
synonym: "infantile respiratory distress syndrome" RELATED [GARD:0000112]
synonym: "IRDS" RELATED ABBREVIATION [GARD:0000112]
synonym: "NRDS" RELATED ABBREVIATION [GARD:0000112]
synonym: "RDS" BROAD ABBREVIATION [NCIT:C27560]
synonym: "RDS - infants" RELATED [GARD:0000112]
synonym: "RDS of prematurity" EXACT [OMIM:267450]
synonym: "respiratory distress syndrome" BROAD [NCIT:C27560]
synonym: "respiratory distress syndrome in premature infants" EXACT [OMIM:267450]
synonym: "Respiratory Distress Syndrome, Infant" EXACT [NORD:1659]
synonym: "respiratory distress syndrome, infant" RELATED [GARD:0000112]
xref: GARD:112 {source="MONDO:GARD"}
xref: ICD10CM:P22.0 {source="Orphanet:70587", source="DOID:12716", source="Orphanet:70587/e"}
xref: icd11.foundation:343716587 {source="MONDO:equivalentTo", source="Orphanet:70587", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:368840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566881 {source="MONDO:equivalentTo"}
xref: MESH:D006819 {source="DOID:12716", source="EFO:1000644"}
xref: NORD:1659 {source="MONDO:NORD"}
xref: OMIM:267450 {source="MONDO:equivalentTo", source="Orphanet:70587", source="DOID:12716", source="EFO:1000644", source="Orphanet:70587/e"}
xref: Orphanet:70587 {source="OMIM:267450", source="MONDO:equivalentTo"}
xref: UMLS:C1968593 {source="MEDGEN:368840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C27560"} ! syndromic disease
is_a: MONDO:0017015 {source="Orphanet:70587"} ! primary interstitial lung disease specific to childhood
is_a: MONDO:0021113 {source="DOID:12716", source="MONDO:Redundant", source="NCIT:C27560"} ! respiratory failure
is_a: MONDO:0700081 {source="https://github.com/monarch-initiative/mondo/issues/1360"} ! newborn respiratory distress syndrome
relationship: excluded_subClassOf MONDO:0001208 {source="DOID:12716", source="https://orcid.org/0000-0001-5208-3432"} ! acute respiratory failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5005" xsd:anyURI

[Term]
id: MONDO:0009972
name: respiratory underresponsiveness to hypoxia and hypercapnia
synonym: "respiratory underresponsiveness to hypoxia and hypercapnia" EXACT [OMIM:267480]
xref: MEDGEN:341453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564848 {source="MONDO:equivalentTo"}
xref: OMIM:267480 {source="MONDO:equivalentTo"}
xref: UMLS:C1849430 {source="MEDGEN:341453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009973
name: reticular dysgenesis
def: "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." [Orphanet:33355]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33355"}
subset: orphanet_rare {source="Orphanet:33355"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AK2 deficiency" EXACT [Orphanet:33355]
synonym: "aleukocytosis" RELATED [DOID:0060020, OMIM:267500]
synonym: "congenital Aleukia" RELATED [OMIM:267500]
synonym: "congenital aleukocytosis" EXACT [Orphanet:33355]
synonym: "De Vaal disease" EXACT [DOID:0060020, OMIM:267500, Orphanet:33355]
synonym: "DeVaal disease" RELATED [GARD:0008625]
synonym: "generalised haematopoietic hypoplasia" EXACT OMO:0003005 []
synonym: "generalized hematopoietic hypoplasia" EXACT [Orphanet:33355]
synonym: "haematopoietic hypoplasia, generalised" RELATED OMO:0003005 []
synonym: "hematopoietic hypoplasia, generalized" RELATED [OMIM:267500]
synonym: "RD" RELATED ABBREVIATION [GARD:0008625]
synonym: "reticular Dysgenesia" RELATED [OMIM:267500]
synonym: "reticular dysgenesis" EXACT CLINGEN_LABEL [OMIM:267500]
synonym: "SCID with leukopenia" EXACT [Orphanet:33355]
synonym: "severe combined immunodeficiency with leukopenia" EXACT [OMIM:267500, Orphanet:33355]
xref: DOID:0060020 {source="MONDO:equivalentTo"}
xref: GARD:8625 {source="MONDO:GARD"}
xref: ICD10CM:D81.0 {source="Orphanet:33355/specific", source="Orphanet:33355/e", source="Orphanet:33355"}
xref: MEDGEN:124417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538361 {source="Orphanet:33355/e", source="MONDO:equivalentTo", source="DOID:0060020", source="Orphanet:33355"}
xref: NANDO:1200322 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200695 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27070 {source="MONDO:equivalentTo", source="DOID:0060020"}
xref: OMIM:267500 {source="Orphanet:33355/e", source="MONDO:equivalentTo", source="DOID:0060020", source="Orphanet:33355"}
xref: Orphanet:33355 {source="MONDO:equivalentTo", source="OMIM:267500"}
xref: SCTID:111584000 {source="MONDO:equivalentTo", source="DOID:0060020"}
xref: UMLS:C0272167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124417"}
is_a: MONDO:0015131 {source="DOID:0060020/inferred", source="MONDO:Redundant", source="NCIT:C27070", source="Orphanet:33355/inferred"} ! combined immunodeficiency
is_a: MONDO:0017855 {source="Orphanet:33355", source="PMID:31953710"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0031520 {source="OMIM:267500"} ! familial severe combined immunodeficiency
relationship: disease_has_feature HP:0000777 ! Abnormal thymus morphology
relationship: disease_has_feature HP:0001888 ! Lymphopenia
relationship: disease_has_feature HP:0004430 ! Severe combined immunodeficiency
relationship: disease_has_feature HP:0005541 ! Congenital agranulocytosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/362 {source="MONDO:mim2gene_medgen"} ! AK2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis" xsd:anyURI {source="GARD:0008625"}

[Term]
id: MONDO:0009974
name: familial hemophagocytic lymphohistiocytosis type 1
def: "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth." [Orphanet:540]
comment: Editor note: type 1 split out. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163).
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Erythrophagocytic lymphohistiocytosis, familial" RELATED [OMIM:267700]
synonym: "familial hemophagocytic lymphohistiocytosis" BROAD [NCIT:C61276]
synonym: "familial hemophagocytic lymphohistiocytosis 1" RELATED [DOID:0110921]
synonym: "familial hemophagocytic lymphohistiocytosis type 1" EXACT [DOID:0110921, MONDORULE:1]
synonym: "familial HLH" EXACT [Orphanet:540]
synonym: "FHL1" EXACT ABBREVIATION [DOID:0110921, MONDO:Lexical, OMIM:267700]
synonym: "hemophagocytic lymphohistiocytosis, familial" RELATED [OMIM:267700]
synonym: "hemophagocytic lymphohistiocytosis, familial, 1" RELATED [MONDO:Lexical, OMIM:267700]
synonym: "hemophagocytic reticulosis, familial" RELATED [OMIM:267700]
synonym: "HLH1" EXACT ABBREVIATION [DOID:0110921]
synonym: "Hlh1" RELATED [OMIM:267700]
synonym: "HPLH1" EXACT ABBREVIATION [DOID:0110921]
synonym: "Hplh1" RELATED [OMIM:267700]
synonym: "reticulosis, familial histiocytic" RELATED [OMIM:267700]
xref: DOID:0110921 {source="MONDO:equivalentTo"}
xref: ICD10CM:D76.1 {source="Orphanet:540/attributed", source="Orphanet:540/ntbt", source="Orphanet:540"}
xref: MedDRA:10070904 {source="Orphanet:540/e", source="Orphanet:540"}
xref: MEDGEN:1642840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C61276 {source="MONDO:equivalentTo"}
xref: OMIM:267700 {source="DOID:0110921", source="Orphanet:540/e", source="MONDO:equivalentTo", source="Orphanet:540"}
xref: Orphanet:540 {source="OMIM:267700"}
xref: UMLS:C4551514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642840"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015540 {source="DOID:0110921", source="MONDO:0009974/inferred", source="MONDO:Redundant", source="NCIT:C61276", source="NCIT:C61276/inferred", source="Orphanet:540/inferred"} ! hemophagocytic syndrome
is_a: MONDO:0015541 {source="MONDO:Entailed", source="OMIM:267700", source="Orphanet:540"} ! hereditary hemophagocytic lymphohistiocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0009975
name: reticulum cell sarcoma
def: "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." [NCIT:C27824]
comment: Editor note: check this
subset: gard_rare {source="GARD:16765", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86900"}
subset: orphanet_rare {source="Orphanet:86900"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "histiocytic lymphoma" EXACT [DOID:8538]
synonym: "interdigitating cell sarcoma" EXACT [Orphanet:86900]
synonym: "large-cell Lymphomas" EXACT [DOID:8538, MTH:NOCODE]
synonym: "reticular cell sarcoma" EXACT [MONDO:patterns/location]
synonym: "reticulosarcoma" EXACT [DOID:8538, NCIT:C27824]
synonym: "Reticulum cell sarcoma" EXACT [Orphanet:86900]
synonym: "reticulum cell sarcoma" EXACT [OMIM:267730]
synonym: "sarcoma of reticular cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:8538 {source="MONDO:equivalentTo", source="EFO:0005287"}
xref: EFO:0005287 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16765 {source="MONDO:GARD"}
xref: ICD10CM:C96.4 {source="Orphanet:86900", source="Orphanet:86900/ntbt"}
xref: icd11.foundation:214592620 {source="MONDO:equivalentTo", source="Orphanet:86900", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:200.0 {source="DOID:8538", source="EFO:0005287"}
xref: ICD9:200.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:200.7 {source="DOID:8538"}
xref: MedDRA:10038804 {source="Orphanet:86900", source="Orphanet:86900/e"}
xref: MEDGEN:44224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008228 {source="MONDO:relatedTo", source="DOID:8538"}
xref: MESH:D054739 {source="MONDO:relatedTo", source="Orphanet:86900", source="Orphanet:86900/e"}
xref: NCIT:C27824 {source="DOID:8538", source="MONDO:equivalentTo", source="EFO:0005287"}
xref: OMIM:267730 {source="DOID:8538", source="MONDO:equivalentTo", source="Orphanet:86900", source="Orphanet:86900/e"}
xref: Orphanet:86900 {source="MONDO:equivalentTo", source="OMIM:267730"}
xref: SCTID:118604003 {source="DOID:8538"}
xref: SCTID:154579006 {source="DOID:8538"}
xref: SCTID:188488003 {source="DOID:8538"}
xref: SCTID:188497004 {source="DOID:8538"}
xref: SCTID:189982000 {source="DOID:8538"}
xref: SCTID:189983005 {source="DOID:8538"}
xref: SCTID:189986002 {source="DOID:8538"}
xref: SCTID:190012002 {source="DOID:8538"}
xref: SCTID:373168002 {source="DOID:8538", source="MONDO:equivalentTo", source="EFO:0005287"}
xref: SCTID:40152000 {source="DOID:8538"}
xref: UMLS:C0024302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44224"}
is_a: MONDO:0000612 {source="DOID:8538"} ! lymphatic system cancer
is_a: MONDO:0005089 {source="EFO:0005287"} ! sarcoma
is_a: MONDO:0020082 {source="Orphanet:86900"} ! dendritic cell tumor

[Term]
id: MONDO:0009976
name: retinal degeneration and epilepsy
synonym: "retinal degeneration and epilepsy" EXACT [OMIM:267740]
xref: MEDGEN:341450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564847 {source="MONDO:equivalentTo"}
xref: OMIM:267740 {source="MONDO:equivalentTo"}
xref: UMLS:C1849416 {source="MEDGEN:341450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009977
name: obsolete Knobloch syndrome
def: "OBSOLETE. Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." [Orphanet:1571]
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5404" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800166

[Term]
id: MONDO:0009978
name: retinal degeneration-nanophthalmos-glaucoma syndrome
def: "Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive." [Orphanet:1574]
subset: gard_rare {source="GARD:395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1574"}
subset: ordo_malformation_syndrome {source="Orphanet:1574"}
subset: orphanet_rare {source="Orphanet:1574"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MacKay Shek Carr syndrome" RELATED [GARD:0000395]
synonym: "Mackay-Shek-Carr syndrome" EXACT [Orphanet:1574]
synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" RELATED [OMIM:267760]
synonym: "retinal degeneration, nanophthalmos, glaucoma" RELATED [GARD:0000395]
xref: GARD:395 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:1574", source="Orphanet:1574/attributed", source="Orphanet:1574/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:444153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538364 {source="MONDO:equivalentTo"}
xref: OMIM:267760 {source="Orphanet:1574", source="MONDO:equivalentTo", source="Orphanet:1574/e"}
xref: Orphanet:1574 {source="OMIM:267760", source="MONDO:equivalentTo"}
xref: SCTID:723503006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931831 {source="MEDGEN:444153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="Orphanet:1574"} ! inherited retinal dystrophy
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1574", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye

[Term]
id: MONDO:0009979
name: reticular dystrophy of the retinal pigment epithelium
def: "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." [Orphanet:99002]
subset: gard_rare {source="GARD:16891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99002"}
subset: orphanet_rare {source="Orphanet:99002"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "reticular dystrophy of retinal pigment epithelium" EXACT [MONDO:0008370, OMIM:179840]
synonym: "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE" RELATED [MESH:C564844, OMIM:267800, UMLS:C1849407]
xref: GARD:16891 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99002/attributed", source="Orphanet:99002/ntbt", source="Orphanet:99002"}
xref: MEDGEN:341448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564844 {source="MONDO:mondoIsBroaderThanSource"}
xref: MESH:C566721 {source="MONDO:equivalentTo"}
xref: OMIM:179840 {source="MONDO:equivalentTo", source="Orphanet:99002/btnt", source="Orphanet:99002"}
xref: OMIM:267800 {source="Orphanet:99002/e", source="MONDO:mondoIsBroaderThanSource", source="Orphanet:99002"}
xref: Orphanet:99002 {source="MONDO:equivalentTo", source="OMIM:179840", source="OMIM:267800"}
xref: SCTID:723502001 {source="MONDO:equivalentTo"}
xref: UMLS:C1849407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341448"}
is_a: MONDO:0018973 {source="Orphanet:99002"} ! patterned dystrophy of the retinal pigment epithelium
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5117" xsd:anyURI

[Term]
id: MONDO:0009980
name: retinal telangiectasia and hypogammaglobulinemia
synonym: "Frenkel Russe syndrome" RELATED [GARD:0002383]
synonym: "retinal telangiectasia and hypogammaglobulinemia" EXACT [OMIM:267900]
synonym: "retinal telangiectasia associated with hypogammaglobulinemia" RELATED [GARD:0002383]
xref: MEDGEN:419680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535638 {source="MONDO:equivalentTo"}
xref: OMIM:267900 {source="MONDO:equivalentTo"}
xref: UMLS:C2930961 {source="MEDGEN:419680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0009981
name: obsolete retinitis pigmentosa type 1
is_obsolete: true
replaced_by: MONDO:0008377

[Term]
id: MONDO:0009982
name: retinitis pigmentosa inversa with deafness
synonym: "retinitis pigmentosa inversa with deafness" EXACT [OMIM:268010]
xref: MEDGEN:341447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564842 {source="MONDO:equivalentTo"}
xref: OMIM:268010 {source="MONDO:equivalentTo"}
xref: UMLS:C1849405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341447"}
is_a: MONDO:0003847 {source="MESH:C564842/inferred"} ! hereditary disease
relationship: disease_has_feature HP:0000365 ! Hearing impairment
relationship: disease_has_feature HP:0008035 ! Retinitis pigmentosa inversa

[Term]
id: MONDO:0009983
name: retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
def: "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." [Orphanet:3085]
subset: gard_rare {source="GARD:4683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3085"}
subset: ordo_malformation_syndrome {source="Orphanet:3085"}
subset: orphanet_rare {source="Orphanet:3085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability" RELATED [OMIM:268020]
synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation" RELATED DEPRECATED [OMIM:268020]
synonym: "retinitis pigmentosa, deafness, intellectual disability, and hypogonadism" RELATED [OMIM:268020]
synonym: "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" RELATED DEPRECATED [OMIM:268020]
synonym: "retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome" EXACT [Orphanet:3085]
synonym: "retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" RELATED [Orphanet:3085]
synonym: "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome" EXACT [Orphanet:3085]
xref: GARD:4683 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3085/attributed", source="Orphanet:3085/ntbt", source="Orphanet:3085"}
xref: MEDGEN:340317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564841 {source="MONDO:equivalentTo"}
xref: OMIM:268020 {source="Orphanet:3085/e", source="MONDO:equivalentTo", source="Orphanet:3085"}
xref: Orphanet:3085 {source="OMIM:268020", source="MONDO:equivalentTo"}
xref: UMLS:C1849401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340317"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0009984
name: late-adult onset retinitis pigmentosa
def: "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." [DOID:0110421, PMID:1424244]
subset: gard_rare {source="GARD:15230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa, 'Senile'" RELATED [OMIM:268025]
synonym: "retinitis pigmentosa, late-ADULT onset" RELATED [OMIM:268025]
synonym: "senile retinitis pigmentosa" EXACT [DOID:0110421]
xref: DOID:0110421 {source="MONDO:equivalentTo"}
xref: GARD:15230 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110421"}
xref: MEDGEN:340316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564840 {source="MONDO:equivalentTo"}
xref: OMIM:268025 {source="MONDO:equivalentTo", source="DOID:0110421"}
xref: UMLS:C1849400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340316"}
is_a: MONDO:0019200 {source="DC-OMIM:268025", source="DOID:0110421", source="MESH:C564840"} ! retinitis pigmentosa

[Term]
id: MONDO:0009985
name: retinohepatoendocrinologic syndrome
def: "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family." [Orphanet:3087]
subset: gard_rare {source="GARD:4685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:3087"}
subset: rare
synonym: "retinohepatoendocrinologic syndrome" EXACT [OMIM:268040]
synonym: "rhe syndrome" RELATED [OMIM:268040]
xref: GARD:4685 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3087/attributed", source="Orphanet:3087/ntbt", source="Orphanet:3087"}
xref: MEDGEN:340315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564839 {source="MONDO:equivalentTo"}
xref: OMIM:268040 {source="Orphanet:3087/e", source="MONDO:equivalentTo", source="Orphanet:3087"}
xref: Orphanet:3087 {source="MONDO:equivalentObsolete", source="OMIM:268040"}
xref: SCTID:724000006 {source="MONDO:equivalentTo"}
xref: UMLS:C1849399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340315"}
is_a: MONDO:0005151 {source="Orphanet:3087", source="Orphanet:3087/inferred"} ! endocrine system disorder
is_a: MONDO:0015126 {source="Orphanet:3087"} ! polyendocrinopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome" xsd:anyURI {source="GARD:0004685"}

[Term]
id: MONDO:0009986
name: retinopathy, pigmentary, and intellectual disability
synonym: "Mirhosseini-Holmes-Walton syndrome" RELATED [OMIM:268050]
synonym: "retinal pigmentary degeneration, microcephaly, and severe intellectual disability" RELATED [GARD:0004688]
synonym: "retinal pigmentary degeneration, microcephaly, and severe mental retardation" RELATED DEPRECATED [GARD:0004688]
synonym: "retinopathy pigmentary intellectual disability" RELATED [GARD:0004688]
synonym: "retinopathy pigmentary mental retardation" RELATED DEPRECATED [GARD:0004688]
synonym: "retinopathy, pigmentary, and intellectual disability" EXACT [OMIM:268050]
synonym: "retinopathy, pigmentary, and mental retardation" EXACT DEPRECATED [OMIM:268050]
xref: MEDGEN:167101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538367 {source="MONDO:equivalentTo"}
xref: OMIM:268050 {source="MONDO:equivalentTo"}
xref: Orphanet:3084 {source="MONDO:equivalentObsolete", source="OMIM:268050"}
xref: UMLS:C0796072 {source="MEDGEN:167101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C538367/inferred"} ! hereditary disease

[Term]
id: MONDO:0009987
name: autosomal recessive pericentral pigmentary retinopathy
def: "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." [DOID:0110422, PMID:3189470]
subset: gard_rare {source="GARD:15231", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa, pericentral" RELATED [OMIM:268060]
synonym: "retinopathy, pericentral pigmentary, autosomal recessive" RELATED [OMIM:268060]
xref: DOID:0110422 {source="MONDO:equivalentTo"}
xref: GARD:15231 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110422"}
xref: MEDGEN:340314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564838 {source="MONDO:equivalentTo"}
xref: OMIM:268060 {source="MONDO:equivalentTo", source="DOID:0110422"}
xref: Orphanet:791 {source="OMIM:268060"}
xref: UMLS:C1849398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340314"}
is_a: MONDO:0019200 {source="DOID:0110422", source="MESH:C564838"} ! retinitis pigmentosa

[Term]
id: MONDO:0009988
name: retinoschisis of fovea
subset: gard_rare {source="GARD:9143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial foveal retinoschisis" RELATED [GARD:0009143]
synonym: "foveal retinoschisis" RELATED [GARD:0009143]
synonym: "retinoschisis of fovea" EXACT [OMIM:268080]
xref: GARD:9143 {source="MONDO:GARD"}
xref: MEDGEN:340313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538369 {source="MONDO:equivalentTo"}
xref: OMIM:268080 {source="MONDO:equivalentTo"}
xref: UMLS:C1849397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340313"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004579 {source="DC-OMIM:268080", source="MESH:C538369"} ! retinoschisis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea" xsd:anyURI {source="GARD:0009143"}

[Term]
id: MONDO:0009989
name: obsolete enhanced S-cone syndrome
comment: Split into two terms.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2684" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100288

[Term]
id: MONDO:0009990
name: Revesz syndrome
def: "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." [Orphanet:3088]
subset: gard_rare {source="GARD:4695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3088"}
subset: ordo_malformation_syndrome {source="Orphanet:3088"}
subset: orphanet_rare {source="Orphanet:3088"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DKCA5" EXACT ABBREVIATION [DOID:0070026]
synonym: "dyskeratosis congenita with bilateral exudative retinopathy" EXACT [Orphanet:3088]
synonym: "dyskeratosis congenita, autosomal dominant 5" EXACT [DOID:0070026, OMIM:268130]
synonym: "exudative retinopathy with bone marrow failure" EXACT [DOID:0070026, OMIM:268130]
synonym: "retinopathy-anemia-central nervous system anomalies syndrome" EXACT [Orphanet:3088]
synonym: "Revesz syndrome" EXACT [OMIM:268130]
synonym: "Revesz-DeBuse syndrome" EXACT [Orphanet:3088]
xref: DOID:0070026 {source="MONDO:equivalentTo"}
xref: GARD:4695 {source="MONDO:GARD"}
xref: MEDGEN:231230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538371 {source="MONDO:equivalentTo"}
xref: NCIT:C152064 {source="MONDO:equivalentTo"}
xref: OMIM:268130 {source="Orphanet:3088/e", source="MONDO:equivalentTo", source="DOID:0070026", source="Orphanet:3088"}
xref: Orphanet:3088 {source="OMIM:268130", source="MONDO:equivalentTo"}
xref: SCTID:723512008 {source="MONDO:equivalentTo"}
xref: UMLS:C1327916 {source="MEDGEN:231230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015780 {source="DC-OMIM:268130", source="DOID:0070026", source="OMIM:268130"} ! dyskeratosis congenita
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:3088"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11824 {source="MONDO:mim2gene_medgen"} ! TINF2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome" xsd:anyURI {source="GARD:0004695"}

[Term]
id: MONDO:0009991
name: obsolete Rh deficiency syndrome
is_obsolete: true
replaced_by: MONDO:0019107

[Term]
id: MONDO:0009992
name: myoglobinuria, acute recurrent, autosomal recessive
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18251", source="MONDO:GARD"}
subset: rare
synonym: "myoglobinuria, acute recurrent, autosomal recessive" EXACT CLINGEN_LABEL [OMIM:268200]
synonym: "myoglobinuria, familial paroxysmal paralytic" RELATED [OMIM:268200]
synonym: "rhabdomyolysis, acute recurrent" RELATED [OMIM:268200]
xref: GARD:18251 {source="MONDO:GARD"}
xref: MEDGEN:340308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564832 {source="MONDO:equivalentTo"}
xref: OMIM:268200 {source="MONDO:equivalentTo"}
xref: Orphanet:99845 {source="OMIM:268200"}
xref: UMLS:C1849386 {source="MEDGEN:340308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000866 {source="DC-OMIM:268200", source="MESH:C564832"} ! hereditary myoglobinuria
is_a: MONDO:0020504 {source="Orphanet:99845/btnt"} ! hereditary recurrent myoglobinuria
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13345 {source="MONDO:mim2gene_medgen"} ! LPIN1

[Term]
id: MONDO:0009993
name: embryonal rhabdomyosarcoma
def: "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis." [NCIT:P378]
subset: gard_rare {source="GARD:4702", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99757"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "botryoid rhabdomyosarcoma (type of ERMS)" RELATED [GARD:0004702]
synonym: "embryonal rhabdomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C8971]
synonym: "embryonal rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "ERMS" EXACT ABBREVIATION [NCIT:C8971]
synonym: "rhabdomyosarcoma 1" RELATED [OMIM:268210]
synonym: "rhabdomyosarcoma chromosomal region" RELATED [OMIM:268210]
synonym: "rhabdomyosarcoma embryonal" RELATED [GARD:0004702]
synonym: "rhabdomyosarcoma, embryonal, 1" RELATED [MONDO:Lexical, OMIM:268210]
synonym: "rhabdomyosarcoma, embryonal, type 1" EXACT [MONDORULE:1, OMIM:268210]
synonym: "rhabdomyosarcoma, somatic" EXACT [OMIM:268210, OMIM:genemap2]
synonym: "RMSE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268210]
synonym: "spindle cell rhabdomyosarcomas (type of ERMS)" RELATED [GARD:0004702]
xref: DOID:3246 {source="MONDO:equivalentTo", source="EFO:0000437"}
xref: EFO:0000437 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4702 {source="MONDO:GARD"}
xref: HP:0006743 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C49.9 {source="Orphanet:99757/ntbt", source="Orphanet:99757"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8910/3 {source="NCIT:C8971"}
xref: MedDRA:10065868 {source="Orphanet:99757", source="Orphanet:99757/e"}
xref: MEDGEN:104910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018233 {source="Orphanet:99757", source="DOID:3246", source="EFO:0000437", source="Orphanet:99757/e"}
xref: NCIT:C8971 {source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"}
xref: OMIM:268210 {source="Orphanet:99757", source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437", source="Orphanet:99757/e"}
xref: ONCOTREE:ERMS {source="MONDO:equivalentTo"}
xref: Orphanet:780 {source="OMIM:268210"}
xref: Orphanet:99757 {source="DOID:3246", source="OMIM:268210", source="MONDO:equivalentTo"}
xref: SCTID:14269005 {source="DOID:3246", source="EFO:0000437"}
xref: SCTID:404051002 {source="DOID:3246", source="MONDO:equivalentTo", source="EFO:0000437"}
xref: UMLS:C0206656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104910"}
is_a: MONDO:0005212 {source="DC-OMIM:268210", source="DOID:3246", source="EFO:0000437", source="NCIT:C8971", source="ONCOTREE:ERMS", source="Orphanet:99757"} ! rhabdomyosarcoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10964 {source="MONDO:mim2gene_medgen"} ! SLC22A18
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "embryonal rhabdomyosarcoma (disease)" xsd:string

[Term]
id: MONDO:0009994
name: alveolar rhabdomyosarcoma
def: "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities." [NCIT:P378]
subset: gard_rare {source="GARD:4701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99756"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alveolar childhood rhabdomyosarcoma" EXACT [DOID:4051]
synonym: "alveolar rhabdomyosarcoma" EXACT [DOID:4051, MONDO:ambiguous, NCIT:C3749]
synonym: "alveolar rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "alveolar rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:4051]
synonym: "arms" EXACT [NCIT:C3749]
synonym: "monomorphous round cell rhabdomyosarcoma" EXACT [NCIT:C3749]
synonym: "paediatric alveolar rhabdomyosarcoma" EXACT OMO:0003005 []
synonym: "pediatric alveolar rhabdomyosarcoma" EXACT [DOID:4051, NCIT:C7958]
synonym: "rhabdomyosarcoma 2" RELATED [MONDO:Lexical, OMIM:268220]
synonym: "rhabdomyosarcoma 2, alveolar, somatic mutation" EXACT [OMIM:268220, OMIM:genemap2]
synonym: "rhabdomyosarcoma alveolar" RELATED [GARD:0004701]
synonym: "rhabdomyosarcoma type 2" EXACT [MONDORULE:1, OMIM:268220]
synonym: "rhabdomyosarcoma, alveolar" RELATED [OMIM:268220]
synonym: "rhabdomyosarcoma, alveolar, somatic mutation" EXACT [OMIM:268220, OMIM:genemap2]
synonym: "RMS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268220]
xref: DOID:4051 {source="MONDO:equivalentTo", source="EFO:0000248"}
xref: EFO:0000248 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4701 {source="MONDO:GARD"}
xref: HP:0006779 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C49.9 {source="Orphanet:99756/ntbt", source="Orphanet:99756"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8920/3 {source="NCIT:C3749"}
xref: MedDRA:10065867 {source="Orphanet:99756", source="Orphanet:99756/e"}
xref: MEDGEN:61651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018232 {source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051", source="Orphanet:99756/e"}
xref: NCIT:C3749 {source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"}
xref: NCIT:C7958 {source="DOID:4051"}
xref: OMIM:268220 {source="Orphanet:99756", source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051", source="Orphanet:99756/e"}
xref: ONCOTREE:ARMS {source="MONDO:equivalentTo"}
xref: Orphanet:780 {source="OMIM:268220"}
xref: Orphanet:99756 {source="OMIM:268220", source="MONDO:equivalentTo"}
xref: SCTID:404053004 {source="MONDO:equivalentTo", source="EFO:0000248", source="DOID:4051"}
xref: SCTID:63449009 {source="EFO:0000248", source="DOID:4051"}
xref: UMLS:C0206655 {source="MEDGEN:61651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005212 {source="DC-OMIM:268220", source="DOID:4051", source="EFO:0000248", source="MESH:D018232", source="NCIT:C3749", source="ONCOTREE:ARMS", source="Orphanet:99756"} ! rhabdomyosarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "alveolar rhabdomyosarcoma (disease)" xsd:string

[Term]
id: MONDO:0009995
name: obsolete rheumatic fever-related antigen
synonym: "rheumatic fever, acute, susceptibility to" RELATED [OMIM:268240]
synonym: "rheumatic fever-related antigen" EXACT [OMIM:268240]
xref: GARD:15232 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:268240 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:3099 {source="OMIM:268240", source="MONDO:relatedTo"}
is_obsolete: true
consider: MONDO:0017767 {source="Orphanet:3099/btnt"}

[Term]
id: MONDO:0009996
name: rhizomelic syndrome, Urbach type
def: "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." [Orphanet:3098]
subset: gard_rare {source="GARD:4705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3098"}
subset: ordo_malformation_syndrome {source="Orphanet:3098"}
subset: orphanet_rare {source="Orphanet:3098"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial rhizomelic dysplasia" RELATED [GARD:0004705]
synonym: "rhizomelic dysplasia, familial" RELATED [OMIM:268250]
synonym: "rhizomelic syndrome" RELATED [OMIM:268250]
xref: GARD:4705 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:3098/attributed", source="Orphanet:3098/ntbt", source="Orphanet:3098"}
xref: MEDGEN:376574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537611 {source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"}
xref: OMIM:268250 {source="Orphanet:3098/e", source="MONDO:equivalentTo", source="Orphanet:3098"}
xref: Orphanet:3098 {source="OMIM:268250", source="MONDO:equivalentTo"}
xref: UMLS:C1849382 {source="MEDGEN:376574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0009997
name: obsolete Roberts syndrome
subset: otar {source="MONDO:OTAR"}
xref: GARD:7387 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4901" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100253

[Term]
id: MONDO:0009998
name: Richieri Costa-Pereira syndrome
def: "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." [Orphanet:3102]
subset: gard_rare {source="GARD:4718", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3102"}
subset: ordo_malformation_syndrome {source="Orphanet:3102"}
subset: orphanet_rare {source="Orphanet:3102"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Richieri Costa Pereira syndrome" RELATED [GARD:0004718]
synonym: "Richieri Costa-Pereira syndrome" EXACT CLINGEN_LABEL []
synonym: "Richieri-Costa and Pereira form of acrofacial dysostosis" RELATED [GARD:0004718]
synonym: "Richieri-Costa-Pereira syndrome" RELATED [OMIM:268305]
synonym: "ROBIN sequence with cleft mandible and limb anomalies" RELATED [OMIM:268305]
synonym: "short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" RELATED [GARD:0004718]
synonym: "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102]
synonym: "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102]
xref: GARD:4718 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3102/attributed", source="Orphanet:3102/ntbt", source="Orphanet:3102"}
xref: MEDGEN:336581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535677 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"}
xref: OMIM:268305 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"}
xref: Orphanet:3102 {source="MONDO:equivalentTo", source="OMIM:268305"}
xref: SCTID:723998001 {source="MONDO:equivalentTo"}
xref: UMLS:C1849348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336581"}
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015161 {source="Orphanet:3102"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18683 {source="MONDO:mim2gene_medgen"} ! EIF4A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome" xsd:anyURI {source="GARD:0004718"}

[Term]
id: MONDO:0009999
name: autosomal recessive Robinow syndrome
def: "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." [Orphanet:1507]
subset: gard_rare {source="GARD:16568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1507"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "costovertebral segmentation defect with mesomelia" RELATED [OMIM:268310]
synonym: "costovertebral segmentation defect with mesomelia, formerly" RELATED [OMIM:268310]
synonym: "costovertebral segmentation defect-mesomelia syndrome" EXACT [DOID:0060764, Orphanet:1507]
synonym: "COVESDEM syndrome" EXACT [DOID:0060764, Orphanet:1507]
synonym: "Covesdem syndrome" RELATED [OMIM:268310]
synonym: "Covesdem syndrome, formerly" RELATED [OMIM:268310]
synonym: "Robinow syndrome, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:268310]
synonym: "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" RELATED [OMIM:268310]
synonym: "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly" RELATED [OMIM:268310]
synonym: "RRS" EXACT ABBREVIATION [DOID:0060764, MONDO:Lexical, OMIM:268310, Orphanet:1507]
xref: DOID:0060764 {source="MONDO:equivalentTo"}
xref: GARD:16568 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="DOID:0060764", source="Orphanet:1507/attributed", source="Orphanet:1507/ntbt", source="Orphanet:1507"}
xref: MEDGEN:1770070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535863 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="Orphanet:1507"}
xref: OMIM:268310 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="DOID:0060764", source="Orphanet:1507"}
xref: Orphanet:1507 {source="OMIM:268310", source="MONDO:equivalentTo", source="DOID:0060764"}
xref: Orphanet:97360 {source="OMIM:268310", source="DOID:0060764"}
xref: UMLS:C5399974 {source="MEDGEN:1770070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019978 {source="DC-OMIM:268310", source="DOID:0060764", source="MONDO:Redundant", source="OMIM:268310", source="Orphanet:1507"} ! Robinow syndrome
intersection_of: MONDO:0019978 ! Robinow syndrome
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10257 {source="MONDO:mim2gene_medgen"} ! ROR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010000
name: rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
subset: otar {source="MONDO:OTAR"}
synonym: "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" EXACT [OMIM:268315]
xref: MEDGEN:376565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564829 {source="MONDO:equivalentTo"}
xref: OMIM:268315 {source="MONDO:equivalentTo"}
xref: UMLS:C1849333 {source="MEDGEN:376565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564829/inferred"} ! hereditary disease

[Term]
id: MONDO:0010001
name: ectodermal dysplasia-blindness syndrome
def: "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." [Orphanet:1806]
subset: gard_rare {source="GARD:2045", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1806"}
subset: ordo_malformation_syndrome {source="Orphanet:1806"}
subset: orphanet_rare {source="Orphanet:1806"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [OMIM:268320]
synonym: "microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [GARD:0000293]
synonym: "RODRIGUES blindness" RELATED [OMIM:268320]
xref: GARD:2045 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1806/attributed", source="Orphanet:1806/ntbt", source="Orphanet:1806"}
xref: MEDGEN:340297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535865 {source="MONDO:equivalentTo"}
xref: OMIM:268320 {source="Orphanet:1806/e", source="MONDO:equivalentTo", source="Orphanet:1806"}
xref: Orphanet:1806 {source="OMIM:268320", source="MONDO:equivalentTo"}
xref: UMLS:C1849332 {source="MONDO:equivalentTo", source="MEDGEN:340297", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019287 {source="Orphanet:1806"} ! ectodermal dysplasia syndrome
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0010002
name: Rothmund-Thomson syndrome
def: "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." [Orphanet:2909]
comment: Editor note: check whether properties apply to both 1 and 2, or just type 2
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1678"}
subset: ordo_disorder {source="Orphanet:2909"}
subset: orphanet_rare {source="Orphanet:2909"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital poikiloderma" EXACT [DOID:2732]
synonym: "poikiloderma atrophicans and cataract" RELATED [OMIM:268400]
synonym: "poikiloderma congenitale" RELATED [GARD:0004392]
synonym: "poikiloderma of Rothmund-Thomson" EXACT [Orphanet:2909]
synonym: "Rothmund-Thomson syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:268400]
synonym: "RTS" EXACT ABBREVIATION [DOID:2732, MONDO:Lexical, NCIT:C3335, OMIM:268400, Orphanet:2909]
xref: DOID:2732 {source="MONDO:equivalentTo"}
xref: GARD:4392 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2909/ntbt", source="Orphanet:2909", source="Orphanet:2909/index", source="DOID:2732"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011038 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"}
xref: NANDO:1200671 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3335 {source="DOID:2732", source="MONDO:equivalentTo"}
xref: NORD:1678 {source="MONDO:NORD"}
xref: OMIMPS:268400 {source="MONDO:equivalentTo"}
xref: Orphanet:2909 {source="MONDO:equivalentTo", source="OMIM:268400"}
xref: SCTID:205565002 {source="DOID:2732"}
xref: SCTID:205572001 {source="DOID:2732"}
xref: SCTID:69093006 {source="DOID:2732", source="MONDO:equivalentTo"}
xref: UMLS:C0032339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10819"}
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder
is_a: MONDO:0015356 {source="NCIT:C3335"} ! hereditary neoplastic syndrome
is_a: MONDO:0015951 {source="Orphanet:2909", source="PMID:27745641"} ! hereditary photodermatosis
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2909", source="Orphanet:2909/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:2909", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0016382 {source="Orphanet:2909", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary poikiloderma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:268400"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI

[Term]
id: MONDO:0010003
name: Rowley-Rosenberg syndrome
synonym: "Growth retardation, pulmonary hypertension, and amino aciduria" RELATED [OMIM:268500]
synonym: "Growth retardation, pulmonary hypertension, and aminoaciduria" RELATED [GARD:0008556]
synonym: "Rowley-Rosenberg syndrome" EXACT [OMIM:268500]
xref: MEDGEN:120638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535874 {source="MONDO:equivalentTo"}
xref: OMIM:268500 {source="MONDO:equivalentTo"}
xref: SCTID:53783003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268426 {source="MEDGEN:120638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C535874/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8556/rowley-rosenberg-syndrome" xsd:anyURI {source="GARD:0008556"}

[Term]
id: MONDO:0010004
name: EEC syndrome
def: "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." [Orphanet:1896]
subset: gard_rare {source="GARD:2076", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1079"}
subset: ordo_disorder {source="Orphanet:1896"}
subset: ordo_malformation_syndrome {source="Orphanet:1896"}
subset: orphanet_rare {source="Orphanet:1896"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate" EXACT [NORD:1079]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome" EXACT [DOID:0060782]
synonym: "ectrodactyly-cleft lip/palate syndrome" RELATED [GARD:0002076]
synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate" RELATED [GARD:0002076]
synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome" EXACT [Orphanet:1896]
synonym: "ectrodactyly-ectodermal dysplasia-cleft syndrome" EXACT [NCIT:C148261]
synonym: "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" RELATED [GARD:0002076]
synonym: "ectrodactyly-ectodermal dysplasia-clefting syndrome" EXACT [DOID:0060782]
synonym: "RUDIGER syndrome" RELATED [OMIM:268650]
synonym: "Rudiger syndrome 1" EXACT [DOID:0060782]
synonym: "Walker-Clodius syndrome" EXACT [DOID:0060782]
xref: DOID:0060782 {source="MONDO:equivalentTo"}
xref: GARD:2076 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="DOID:0060782", source="Orphanet:1896", source="Orphanet:1896/attributed", source="Orphanet:1896/ntbt"}
xref: MEDGEN:98357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536189 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NCIT:C148261 {source="MONDO:equivalentTo"}
xref: NORD:1079 {source="MONDO:NORD"}
xref: OMIM:268650 {source="MONDO:equivalentTo"}
xref: Orphanet:1896 {source="DOID:0060782", source="MONDO:equivalentTo"}
xref: Orphanet:3118 {source="OMIM:268650"}
xref: SCTID:39788007 {source="MONDO:equivalentTo"}
xref: UMLS:C0406704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98357"}
is_a: MONDO:0000426 {source="DOID:0060782", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1896", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_characteristic HP:0000006 {source="Orphanet:1896"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome" xsd:anyURI {source="GARD:0002076"}

[Term]
id: MONDO:0010005
name: saccharopinuria
def: "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria." [Orphanet:3124]
subset: gard_rare {source="GARD:314", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3124"}
subset: orphanet_rare {source="Orphanet:3124"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:268700]
synonym: "hyperlysinemia type II" EXACT [Orphanet:3124]
synonym: "hyperlysinemia, type 2" RELATED [OMIM:268700]
synonym: "saccharopine dehydrogenase deficiency" EXACT [OMIM:268700, Orphanet:3124]
synonym: "saccharopinuria" EXACT [OMIM:268700]
xref: GARD:314 {source="MONDO:GARD"}
xref: ICD10CM:E72.3 {source="Orphanet:3124/attributed", source="Orphanet:3124/ntbt", source="Orphanet:3124"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537218 {source="Orphanet:3124", source="MONDO:equivalentTo", source="Orphanet:3124/e"}
xref: OMIM:268700 {source="Orphanet:3124", source="MONDO:equivalentTo", source="Orphanet:3124/e"}
xref: Orphanet:3124 {source="MONDO:equivalentTo", source="OMIM:268700"}
xref: SCTID:111397004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75693"}
is_a: MONDO:0017351 {source="Orphanet:3124"} ! inborn disorder of lysine and hydroxylysine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17366 {source="MONDO:mim2gene_medgen"} ! AASS

[Term]
id: MONDO:0010006
name: Sandhoff disease
def: "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration." [Orphanet:796]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2521", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1688"}
subset: ordo_disorder {source="Orphanet:796"}
subset: orphanet_rare {source="Orphanet:796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta-hexosaminidase-beta-subunit deficiency" RELATED [GARD:0007604]
synonym: "GM2 gangliosidosis 0 variant" EXACT [Orphanet:796]
synonym: "GM2 gangliosidosis, 0 variant" RELATED [GARD:0002521]
synonym: "GM2 gangliosidosis, type 2" RELATED [GARD:0007604]
synonym: "GM2-gangliosidosis, type 2" RELATED [OMIM:268800]
synonym: "hexosaminidase A and B deficiency disease" RELATED [GARD:0007604]
synonym: "Hexosaminidases A and B deficiency" EXACT [Orphanet:796]
synonym: "Hexosaminidases a and B deficiency" RELATED [OMIM:268800]
synonym: "Sandhoff disease" EXACT CLINGEN_LABEL [OMIM:268800]
synonym: "Sandhoff disease, adult type" RELATED [OMIM:268800]
synonym: "Sandhoff disease, infantile type" RELATED [OMIM:268800]
synonym: "Sandhoff disease, infantile, juvenile, and adult forms" EXACT [OMIM:268800, OMIM:genemap2]
synonym: "Sandhoff disease, juvenile type" RELATED [OMIM:268800]
synonym: "Sandhoff Jatzkewitz disease" EXACT [DOID:3323]
synonym: "Sandhoff-Jatzkewitz-Pilz disease" RELATED [GARD:0007604]
synonym: "total hexosaminidase deficiency" RELATED [GARD:0007604]
xref: DOID:3323 {source="MONDO:equivalentTo"}
xref: GARD:2521 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:796", source="Orphanet:796/ntbt", source="Orphanet:796/inclusion"}
xref: ICD10CM:E75.01 {source="DOID:3323", source="MONDO:equivalentTo"}
xref: MEDGEN:11313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012497 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="Orphanet:796/e"}
xref: NANDO:1200072 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201200 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85052 {source="DOID:3323", source="MONDO:equivalentTo"}
xref: NORD:1688 {source="MONDO:NORD"}
xref: OMIM:268800 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="Orphanet:796/e"}
xref: Orphanet:309155 {source="OMIM:268800"}
xref: Orphanet:309162 {source="OMIM:268800"}
xref: Orphanet:309169 {source="OMIM:268800"}
xref: Orphanet:796 {source="MONDO:equivalentTo", source="OMIM:268800"}
xref: SCTID:23849003 {source="DOID:3323", source="MONDO:equivalentTo"}
xref: UMLS:C0036161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11313"}
is_a: MONDO:0002561 {source="DOID:3323/inferred", source="MESH:D012497/inferred", source="MONDO:Redundant", source="NCIT:C85052", source="Orphanet:796/inferred"} ! lysosomal storage disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0017720 {source="DOID:3323", source="ICD10CM:E75.01", source="MESH:D012497", source="Orphanet:796"} ! GM2 gangliosidosis
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0020143 {source="Orphanet:796"} ! cerebral lipidosis with dementia
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4879 {source="MONDO:mim2gene_medgen"} ! HEXB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010007
name: microbrachycephaly-ptosis-cleft lip syndrome
def: "Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." [Orphanet:2511]
subset: gard_rare {source="GARD:3596", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2511"}
subset: ordo_malformation_syndrome {source="Orphanet:2511"}
subset: orphanet_rare {source="Orphanet:2511"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microbrachycephaly ptosis cleft lip" RELATED [GARD:0003596]
synonym: "Richieri Costa-Guion Almeida-Ramos syndrome" EXACT [Orphanet:2511]
synonym: "Richieri-COSTA/Guion-Almeida syndrome" RELATED [OMIM:268850]
synonym: "sao Paulo MCA/Mr syndrome" RELATED [OMIM:268850]
synonym: "short stature, intellectual disability, eye anomalies, and cleft Lip/palate" RELATED [OMIM:268850]
synonym: "short stature, mental retardation, eye anomalies, and cleft Lip/palate" RELATED DEPRECATED [OMIM:268850]
xref: GARD:3596 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2511/attributed", source="Orphanet:2511/ntbt", source="Orphanet:2511"}
xref: MEDGEN:162914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:268850 {source="Orphanet:2511", source="MONDO:equivalentTo", source="Orphanet:2511/e"}
xref: Orphanet:2511 {source="GARD:0003596", source="MONDO:equivalentTo", source="OMIM:268850"}
xref: UMLS:C0796142 {source="MEDGEN:162914", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2511"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2511", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip" xsd:anyURI {source="GARD:0003596"}

[Term]
id: MONDO:0010008
name: sarcosinemia
def: "Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency." [Orphanet:3129]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3129"}
subset: orphanet_rare {source="Orphanet:3129"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypersarcosinemia" RELATED [OMIM:268900]
synonym: "SARCOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268900]
synonym: "sarcosine dehydrogenase complex deficiency" RELATED [OMIM:268900, Orphanet:3129]
synonym: "sarcosinemia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:268900, OMIM:genemap2]
synonym: "SARD deficiency" RELATED [OMIM:268900]
synonym: "SARDH deficiency" RELATED [OMIM:268900]
xref: DOID:0112307 {source="MONDO:equivalentTo"}
xref: GARD:158 {source="MONDO:GARD"}
xref: ICD10CM:E72.5 {source="Orphanet:3129/inclusion", source="Orphanet:3129", source="Orphanet:3129/ntbt"}
xref: icd11.foundation:1901733714 {source="MONDO:equivalentTo", source="Orphanet:3129", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10059299 {source="Orphanet:3129", source="Orphanet:3129/e"}
xref: MEDGEN:120651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537236 {source="MONDO:equivalentTo", source="Orphanet:3129", source="Orphanet:3129/e"}
xref: OMIM:268900 {source="MONDO:equivalentTo", source="Orphanet:3129", source="Orphanet:3129/e"}
xref: Orphanet:3129 {source="MONDO:equivalentTo", source="OMIM:268900"}
xref: SCTID:64852002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120651"}
is_a: MONDO:0100477 {source="PMID:33340416"} ! disorder of methylamine metabolism
relationship: disease_has_basis_in_disruption_of GO:0006544 {source="https://en.wikipedia.org/wiki/Sarcosine_dehydrogenase", source="https://orcid.org/0000-0001-5208-3432"} ! glycine metabolic process
relationship: disease_has_basis_in_disruption_of GO:0008480 ! sarcosine dehydrogenase activity
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0019239 {source="Orphanet:3129", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of serine family metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10536 {source="MONDO:mim2gene_medgen"} ! SARDH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/158/sarcosinemia" xsd:anyURI {source="GARD:0000158"}

[Term]
id: MONDO:0010009
name: obsolete SC phocomelia syndrome
comment: This term was split into a combined parent class (Roberts-SC phocomelia syndrome) and the children classes.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2553" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100282

[Term]
id: MONDO:0010010
name: Schinzel-Giedion syndrome
def: "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." [Orphanet:798]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:117", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1694"}
subset: ordo_disorder {source="Orphanet:798"}
subset: ordo_malformation_syndrome {source="Orphanet:798"}
subset: orphanet_rare {source="Orphanet:798"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Schinzel Giedion midface-retraction syndrome" RELATED [GARD:0000117]
synonym: "Schinzel Giedion Syndrome" EXACT [NORD:1694]
synonym: "Schinzel Giedion syndrome" RELATED [GARD:0000117]
synonym: "Schinzel-Giedion midface retraction syndrome" RELATED [OMIM:269150]
synonym: "Schinzel-Giedion midface-retraction syndrome" EXACT [NCIT:C129308]
synonym: "Schinzel-Giedion syndrome" EXACT CLINGEN_LABEL [GARD:0000117]
synonym: "SGS" EXACT ABBREVIATION [Orphanet:798]
synonym: "Sgs" RELATED [OMIM:269150]
xref: DOID:0070509 {source="MONDO:equivalentTo"}
xref: GARD:117 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:798/attributed", source="Orphanet:798/ntbt", source="Orphanet:798"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063540 {source="Orphanet:798", source="Orphanet:798/e"}
xref: MEDGEN:120517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536632 {source="MONDO:equivalentTo"}
xref: NCIT:C129308 {source="MONDO:equivalentTo"}
xref: NORD:1694 {source="MONDO:NORD"}
xref: OMIM:269150 {source="Orphanet:798", source="MONDO:equivalentTo", source="GARD:0000117", source="Orphanet:798/e"}
xref: Orphanet:798 {source="MONDO:equivalentTo", source="GARD:0000117", source="OMIM:269150"}
xref: SCTID:18899000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265227 {source="MEDGEN:120517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="Orphanet:798", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129308"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:798"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019287 {source="Orphanet:798"} ! ectodermal dysplasia syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15573 {source="MONDO:mim2gene_medgen"} ! SETBP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010011
name: schizencephaly
def: "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." [Orphanet:799]
subset: gard_rare {source="GARD:166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:799"}
subset: orphanet_rare {source="Orphanet:799"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "schizencephaly" EXACT CLINGEN_LABEL [OMIM:269160]
xref: GARD:166 {source="MONDO:GARD"}
xref: ICD10CM:Q04.6 {source="Orphanet:799/inclusion", source="Orphanet:799", source="Orphanet:799/ntbt"}
xref: icd11.foundation:1693546163 {source="Orphanet:799", source="MONDO:equivalentTo"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065707 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:1201073 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200818 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99056 {source="MONDO:equivalentTo"}
xref: OMIM:269160 {source="Orphanet:799", source="GARD:0000166", source="MONDO:equivalentTo", source="Orphanet:799/e"}
xref: Orphanet:799 {source="GARD:0000166", source="MONDO:equivalentTo", source="OMIM:269160"}
xref: SCTID:253159001 {source="MONDO:equivalentTo"}
xref: UMLS:C0266484 {source="MEDGEN:78606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="NCIT:C99056"} ! congenital nervous system disorder
is_a: MONDO:0017103 {source="Orphanet:799"} ! encephaloclastic disorder

[Term]
id: MONDO:0010012
name: autoimmune polyendocrinopathy type 2
def: "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis." [NCIT:C129728]
subset: gard_rare {source="GARD:7611", source="MONDO:GARD"}
subset: nord_rare {source="NORD:824", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3143"}
subset: orphanet_rare {source="Orphanet:3143"}
subset: rare
synonym: "APS 2" RELATED [OMIM:269200]
synonym: "APS type 2" EXACT [Orphanet:3143]
synonym: "APS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:269200, Orphanet:3143]
synonym: "autoimmune polyendocrine syndrome type 2" EXACT [MONDO:0000272, Orphanet:3143]
synonym: "Autoimmune Polyendocrine Syndrome Type II" EXACT [NORD:824]
synonym: "autoimmune polyendocrine syndrome, type II" RELATED [MONDO:Lexical, OMIM:269200]
synonym: "autoimmune polyglandular syndrome type 2" EXACT [Orphanet:3143]
synonym: "autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome" EXACT [Orphanet:3143]
synonym: "diabetes mellitus, Addison disease, myxedema" RELATED [OMIM:269200]
synonym: "diabetes mellitus, Addison's disease, myxedema" RELATED [GARD:0007611]
synonym: "multiple endocrine deficiency syndrome, type 2" RELATED [GARD:0007611]
synonym: "PGA 2" RELATED [OMIM:269200]
synonym: "polyendocrine autoimmune syndrome, type 2" RELATED [OMIM:269200]
synonym: "polyglandular autoimmune syndrome, type 2" RELATED [OMIM:269200]
synonym: "polyglandular deficiency syndrome type 2" RELATED [GARD:0007611]
synonym: "Schmidt syndrome" EXACT [DOID:0050168, OMIM:269200, Orphanet:3143]
synonym: "Schmidt's syndrome" RELATED [GARD:0007611]
xref: DOID:0050168 {source="MONDO:equivalentTo"}
xref: GARD:7611 {source="MONDO:GARD"}
xref: ICD10CM:E31.0 {source="Orphanet:3143/specific", source="Orphanet:3143/e", source="Orphanet:3143"}
xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200347 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129728 {source="MONDO:equivalentTo"}
xref: NORD:824 {source="MONDO:NORD"}
xref: OMIM:269200 {source="Orphanet:3143/e", source="MONDO:equivalentTo", source="Orphanet:3143"}
xref: Orphanet:3143 {source="OMIM:269200", source="MONDO:equivalentTo"}
xref: SCTID:83728000 {source="MONDO:equivalentTo"}
xref: UMLS:C0085860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39126"}
is_a: MONDO:0017278 {source="DC-OMIM:269200", source="DOID:0050168", source="NCIT:C129728", source="Orphanet:3143"} ! autoimmune polyendocrinopathy
relationship: excluded_subClassOf MONDO:0015130 {source="Orphanet:3143", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acquired chronic primary adrenal insufficiency
relationship: excluded_subClassOf MONDO:0019851 {source="Orphanet:3143", source="https://orcid.org/0000-0001-5208-3432"} ! acquired primary ovarian failure

[Term]
id: MONDO:0010013
name: schneckenbecken dysplasia
def: "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." [Orphanet:3144]
subset: gard_rare {source="GARD:169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3144"}
subset: ordo_malformation_syndrome {source="Orphanet:3144"}
subset: orphanet_rare {source="Orphanet:3144"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia lethal neonatal with snail like pelvis" RELATED [GARD:0000169]
synonym: "chondrodysplasia with snail-like pelvis" EXACT [Orphanet:3144]
synonym: "chondrodysplasia, lethal neonatal, with snail-like pelvis" RELATED [OMIM:269250]
synonym: "schneckenbecken dysplasia" EXACT CLINGEN_LABEL [OMIM:269250]
synonym: "SHNKND" RELATED ABBREVIATION [OMIM:269250]
synonym: "SLC35D1-CDG" EXACT [Orphanet:3144]
xref: DOID:0050775 {source="MONDO:equivalentTo"}
xref: GARD:169 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:3144", source="Orphanet:3144/attributed", source="Orphanet:3144/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536637 {source="Orphanet:3144", source="MONDO:equivalentTo", source="Orphanet:3144/e"}
xref: OMIM:269250 {source="Orphanet:3144", source="DOID:0050775", source="MONDO:equivalentTo", source="Orphanet:3144/e"}
xref: Orphanet:3144 {source="MONDO:equivalentTo", source="OMIM:269250"}
xref: SCTID:254049009 {source="MONDO:equivalentTo"}
xref: UMLS:C0432194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98475"}
is_a: MONDO:0005516 {source="DOID:0050775", source="MESH:C536637"} ! osteochondrodysplasia
is_a: MONDO:0019694 {source="Orphanet:3144"} ! spondylodysplastic dysplasia
is_a: MONDO:0024322 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glycosylation
is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20800 {source="MONDO:mim2gene_medgen"} ! SLC35D1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia" xsd:anyURI {source="GARD:0000169"}

[Term]
id: MONDO:0010014
name: craniometadiaphyseal dysplasia, wormian bone type
def: "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." [Orphanet:85184]
comment: OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. {source="OMIM:269300"}
subset: gard_rare {source="GARD:16737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85184"}
subset: ordo_malformation_syndrome {source="Orphanet:85184"}
subset: orphanet_rare {source="Orphanet:85184"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CRANIOMETADIAPHYSEAL dysplasia" RELATED [MONDO:Lexical, OMIM:269300]
synonym: "CRMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269300]
synonym: "Schwartz-Lelek syndrome" EXACT [OMIM:269300]
xref: GARD:16737 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:85184/attributed", source="Orphanet:85184/ntbt", source="Orphanet:85184"}
xref: MEDGEN:1382152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:269300 {source="Orphanet:85184/e", source="MONDO:equivalentTo", source="Orphanet:85184"}
xref: Orphanet:85184 {source="OMIM:269300", source="MONDO:equivalentTo"}
xref: SCTID:278833002 {source="MONDO:equivalentTo"}
xref: UMLS:C4510809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1382152"}
is_a: MONDO:0018230 {source="Orphanet:85184"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:85184"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:85184", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010015
name: anterior segment dysgenesis 7
def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17327", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289499"}
subset: ordo_malformation_syndrome {source="Orphanet:289499"}
subset: orphanet_rare {source="Orphanet:289499"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior segment dysgenesis 7" EXACT [OMIM:269400]
synonym: "anterior segment dysgenesis 7, with sclerocornea" EXACT [OMIM:269400, OMIM:genemap2]
synonym: "anterior segment dysgenesis caused by mutation in PXDN" EXACT [MONDO:design_pattern]
synonym: "ASGD7" RELATED ABBREVIATION [OMIM:269400]
synonym: "CCMCO" EXACT ABBREVIATION [Orphanet:289499]
synonym: "congenital cataract microcornea with corneal opacity" RELATED [Orphanet:289499]
synonym: "COPOA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269400]
synonym: "corneal opacification and other ocular anomalies" RELATED [DOID:0060648]
synonym: "corneal opacification with Other ocular anomalies" RELATED [OMIM:269400]
synonym: "corneal opacification with other ocular anomalies" RELATED [MONDO:Lexical, OMIM:269400]
synonym: "PXDN anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PXDN-related ocular dysgenesis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/]
synonym: "sclerocornea with Other ocular anomalies" RELATED [OMIM:269400]
synonym: "sclerocornea with other ocular anomalies" EXACT [DOID:0060648]
xref: DOID:0080612 {source="MONDO:equivalentTo"}
xref: GARD:17327 {source="MONDO:GARD"}
xref: MEDGEN:462967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:269400 {source="Orphanet:289499", source="MONDO:equivalentTo", source="Orphanet:289499/e"}
xref: Orphanet:289499 {source="MONDO:equivalentTo", source="OMIM:269400"}
xref: UMLS:C3151617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462967"}
is_a: MONDO:0019503 {source="DC-OMIM:269400", source="MONDO:Redundant", source="OMIM:269400"} ! anterior segment dysgenesis
is_a: MONDO:0019629 {source="DOID:0060648"} ! sclerocornea
intersection_of: MONDO:0019503 ! anterior segment dysgenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14966 ! PXDN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14966 {source="MONDO:mim2gene_medgen"} ! PXDN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6782" xsd:anyURI

[Term]
id: MONDO:0010016
name: sclerosteosis 1
def: "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:15233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cortical hyperostosis with syndactyly" RELATED [OMIM:269500]
synonym: "sclerosteosis 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:269500]
synonym: "sclerosteosis caused by mutation in SOST" EXACT [MONDO:design_pattern]
synonym: "sclerosteosis type 1" EXACT [DOID:0060756, MONDORULE:1, OMIM:269500]
synonym: "SOST" RELATED ABBREVIATION [OMIM:269500]
synonym: "SOST sclerosteosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SOST1" EXACT ABBREVIATION [DOID:0060756, MONDO:Lexical, OMIM:269500]
xref: DOID:0060756 {source="MONDO:equivalentTo"}
xref: GARD:15233 {source="MONDO:GARD"}
xref: ICD10CM:M85.2 {source="DOID:0060756"}
xref: MEDGEN:1642815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:269500 {source="MONDO:equivalentTo", source="DOID:0060756"}
xref: Orphanet:3152 {source="OMIM:269500", source="DOID:0060756"}
xref: UMLS:C4551483 {source="MEDGEN:1642815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017838 {source="DC-OMIM:269500", source="DOID:0060756", source="MONDO:Redundant", source="OMIM:269500"} ! sclerosteosis
intersection_of: MONDO:0017838 ! sclerosteosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13771 ! SOST
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13771 {source="MONDO:mim2gene_medgen"} ! SOST
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010017
name: sea-blue histiocyte syndrome
def: "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." [NCIT:P378]
subset: gard_rare {source="GARD:8241", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158029"}
subset: orphanet_rare {source="Orphanet:158029"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "histiocytosis, Sea-blue" RELATED [OMIM:269600]
synonym: "inherited Lipemic splenomegaly" RELATED [GARD:0008241]
synonym: "SEA-blue histiocyte disease" RELATED [OMIM:269600]
synonym: "sea-blue histiocytosis" RELATED [OMIM:269600]
xref: DOID:4423 {source="MONDO:equivalentTo", source="EFO:1001170"}
xref: GARD:8241 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158029/attributed", source="Orphanet:158029/ntbt", source="Orphanet:158029"}
xref: MEDGEN:19908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012618 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"}
xref: NCIT:C85062 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"}
xref: OMIM:269600 {source="Orphanet:158029", source="DOID:4423", source="MONDO:equivalentTo", source="Orphanet:158029/e"}
xref: Orphanet:158029 {source="MONDO:equivalentTo", source="OMIM:269600"}
xref: SCTID:37821003 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"}
xref: UMLS:C0036489 {source="MEDGEN:19908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C85062"} ! syndromic disease
is_a: MONDO:0015531 {source="DOID:4423", source="MESH:D012618"} ! non-Langerhans cell histiocytosis
is_a: MONDO:0019255 {source="DOID:4423", source="MESH:D012618", source="Orphanet:158029"} ! sphingolipidosis
relationship: disease_has_feature MONDO:0005509 {source="EFO:1001170"} ! histiocytoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/613 {source="MONDO:mim2gene_medgen"} ! APOE

[Term]
id: MONDO:0010018
name: second metatarsal-metacarpal syndrome
synonym: "second metatarsal-metacarpal syndrome" EXACT [OMIM:269630]
xref: MEDGEN:341415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564824 {source="MONDO:equivalentTo"}
xref: OMIM:269630 {source="MONDO:equivalentTo"}
xref: UMLS:C1849259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341415"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010019
name: secretory component deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IgA deficiency, secretory" RELATED [OMIM:269650]
synonym: "secretory component deficiency" EXACT [OMIM:269650]
xref: ICD9:279.03 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562869 {source="MONDO:equivalentTo"}
xref: OMIM:269650 {source="MONDO:equivalentTo"}
xref: Orphanet:69127 {source="OMIM:269650"}
xref: SCTID:234554004 {source="MONDO:equivalentTo"}
xref: UMLS:C0398709 {source="MEDGEN:140769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001341 {source="MESH:C562869"} ! selective IgA deficiency disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010020
name: congenital generalized lipodystrophy type 2
def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Berardinelli Seip congenital lipodystrophy type 2" RELATED [GARD:0010212]
synonym: "Berardinelli syndrome" RELATED [OMIM:269700]
synonym: "Berardinelli-Seip congenital lipodystrophy type 2" EXACT [DOID:0111136]
synonym: "Berardinelli-Seip congenital lipodystrophy, type 2" RELATED [OMIM:269700]
synonym: "Berardinelli-Seip syndrome" EXACT [DOID:0111136]
synonym: "Brunzell syndrome BSCL2-related" EXACT [DOID:0111136]
synonym: "Brunzell syndrome, BSCL2-related" RELATED [OMIM:269700]
synonym: "BSCL2 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 []
synonym: "BSCL2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "BSCL2-related Brunzell syndrome" RELATED [GARD:0010212]
synonym: "CGL2" EXACT ABBREVIATION [DOID:0111136, MONDO:Lexical, OMIM:269700]
synonym: "congenital generalised lipodystrophy (disease) caused by mutation in BSCL2" EXACT OMO:0003005 []
synonym: "congenital generalized lipodystrophy (disease) caused by mutation in BSCL2" EXACT []
synonym: "congenital lipoatrophic diabetes" EXACT [DOID:0111136]
synonym: "lipoatrophic diabetes, congenital" RELATED [OMIM:269700]
synonym: "lipodystrophy, Berardinelli-Seip congenital, type 2" RELATED [OMIM:269700]
synonym: "lipodystrophy, congenital generalized, type 2" RELATED [MONDO:Lexical, OMIM:269700]
synonym: "lipodystrophy, total, and acromegaloid gigantism" RELATED [OMIM:269700]
synonym: "Seip syndrome" RELATED [OMIM:269700]
synonym: "total lipodystrophy and acromegaloid gigantism" EXACT [DOID:0111136]
xref: DOID:0111136 {source="MONDO:equivalentTo"}
xref: GARD:10212 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="DOID:0111136"}
xref: MEDGEN:318593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:269700 {source="MONDO:equivalentTo", source="DOID:0111136"}
xref: Orphanet:528 {source="OMIM:269700"}
xref: UMLS:C1720863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318593"}
is_a: MONDO:0006536 {source="DC-OMIM:269700", source="DOID:0111136", source="MONDO:Redundant", source="OMIM:269700"} ! congenital generalized lipodystrophy
is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy
intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 ! BSCL2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 {source="MONDO:mim2gene_medgen"} ! BSCL2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2" xsd:anyURI {source="GARD:0010212"}

[Term]
id: MONDO:0010021
name: seizures, benign familial neonatal, autosomal recessive
subset: gard_rare {source="GARD:15234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant form of benign neonatal seizures" RELATED [GARD:0001519]
synonym: "Bfns, autosomal recessive" RELATED [OMIM:269720]
synonym: "convulsions benign familial neonatal dominant form" RELATED [GARD:0001519]
synonym: "convulsions, benign familial neonatal, autosomal recessive" RELATED [OMIM:269720]
synonym: "epilepsy, benign familial neonatal, autosomal recessive" RELATED [OMIM:269720]
synonym: "seizures, benign familial neonatal, autosomal recessive" EXACT [OMIM:269720]
xref: GARD:15234 {source="MONDO:GARD"}
xref: MEDGEN:338640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564823 {source="MONDO:equivalentTo"}
xref: OMIM:269720 {source="MONDO:equivalentTo"}
xref: Orphanet:1949 {source="OMIM:269720"}
xref: UMLS:C1849250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338640"}
is_a: MONDO:0016027 {source="DC-OMIM:269720"} ! benign neonatal seizures

[Term]
id: MONDO:0010022
name: senile plaque formation
synonym: "senile plaque formation" EXACT [OMIM:269800]
xref: MEDGEN:338639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:269800 {source="MONDO:equivalentTo"}
xref: UMLS:C1849249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338639"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010023
name: combined immunodeficiency due to ZAP70 deficiency
def: "Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction." [Orphanet:911]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:387", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:911"}
subset: orphanet_rare {source="Orphanet:911"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD48" RELATED ABBREVIATION [OMIM:269840]
synonym: "immunodeficiency 48" RELATED [OMIM:269840]
synonym: "selective T-cell defect" RELATED [MONDO:Lexical, OMIM:269840]
synonym: "severe combined immunodeficiency due to ZAP70 deficiency" RELATED [GARD:0000387]
synonym: "STCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269840]
synonym: "ZAP-70 deficiency" RELATED [GARD:0000387]
synonym: "zeta-associated-protein 70 deficiency" EXACT [Orphanet:911]
xref: DOID:0111943 {source="MONDO:equivalentTo"}
xref: GARD:387 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:911/attributed", source="Orphanet:911/ntbt", source="Orphanet:911"}
xref: MEDGEN:1809040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536722 {source="MONDO:equivalentTo"}
xref: NANDO:1200327 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200700 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:269840 {source="Orphanet:911", source="MONDO:equivalentTo", source="Orphanet:911/e"}
xref: Orphanet:911 {source="MONDO:equivalentTo", source="OMIM:269840"}
xref: SCTID:716378008 {source="MONDO:equivalentTo"}
xref: UMLS:C5575025 {source="MEDGEN:1809040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:269840"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:911", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12858 {source="MONDO:mim2gene_medgen"} ! ZAP70

[Term]
id: MONDO:0010024
name: Beemer-Langer syndrome
def: "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." [Orphanet:93268]
subset: gard_rare {source="GARD:4832", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93268"}
subset: ordo_malformation_syndrome {source="Orphanet:93268"}
subset: orphanet_rare {source="Orphanet:93268"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beemer Langer syndrome" RELATED [GARD:0004832]
synonym: "Beemer-Langer syndrome" EXACT [OMIM:269860]
synonym: "short rib polydactyly syndrome Beemer-Langer type" RELATED [GARD:0004832]
synonym: "short rib syndrome, Beemer type" RELATED [OMIM:269860]
synonym: "short rib-polydactyly syndrome Beemer type" RELATED [GARD:0004832]
synonym: "short rib-polydactyly syndrome type 4" EXACT [Orphanet:93268]
synonym: "short rib-polydactyly syndrome type IV" RELATED [GARD:0004832]
synonym: "short rib-polydactyly syndrome, Beemer-Langer type" RELATED [Orphanet:93268]
synonym: "short rib-polydactyly syndrome, type 4" RELATED [OMIM:269860]
synonym: "short-rib thoracic dysplasia 12" RELATED [MONDO:Lexical, OMIM:269860]
synonym: "Srps 4" RELATED [OMIM:269860]
synonym: "SRPS type 4" RELATED [GARD:0004832]
synonym: "SRTD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269860]
synonym: "type IV short rib polydactyly syndrome" EXACT [DOID:9249]
xref: DOID:9249 {source="MONDO:equivalentTo"}
xref: GARD:4832 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:93268", source="Orphanet:93268/attributed", source="Orphanet:93268/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537599 {source="DOID:9249", source="MONDO:equivalentTo"}
xref: OMIM:269860 {source="DOID:9249", source="MONDO:equivalentTo", source="Orphanet:93268", source="Orphanet:93268/e"}
xref: Orphanet:93268 {source="OMIM:269860", source="MONDO:equivalentTo"}
xref: SCTID:254052001 {source="DOID:9249", source="MONDO:equivalentTo"}
xref: UMLS:C0432198 {source="MEDGEN:96578", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:9249", source="MONDO:Redundant", source="MONDO:indirect"} ! syndromic disease
is_a: MONDO:0015461 {source="MESH:C537599", source="MONDO:Redundant", source="Orphanet:93268"} ! short rib-polydactyly syndrome
is_a: MONDO:0018770 {source="OMIM:269860"} ! Jeune syndrome
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
relationship: disease_has_feature HP:0001789 ! Hydrops fetalis
relationship: disease_has_feature HP:0010442 ! Polydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010025
name: short stature-obesity syndrome
synonym: "short stature-obesity syndrome" EXACT [MONDO:Lexical, OMIM:269870]
synonym: "SSOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269870]
xref: MEDGEN:341410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564821 {source="MONDO:equivalentTo"}
xref: OMIM:269870 {source="MONDO:equivalentTo"}
xref: UMLS:C1849235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341410"}
is_a: MONDO:0003847 {source="MESH:C564821/inferred"} ! hereditary disease

[Term]
id: MONDO:0010026
name: SHORT syndrome
def: "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." [Orphanet:3163]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7633", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1710"}
subset: ordo_disorder {source="Orphanet:3163"}
subset: ordo_malformation_syndrome {source="Orphanet:3163"}
subset: orphanet_rare {source="Orphanet:3163"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aarskog-Ose-Pande syndrome" EXACT [Orphanet:3163]
synonym: "lipodystrophy, partial, with Rieger anomaly and short stature" RELATED [OMIM:269880]
synonym: "lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT [Orphanet:3163]
synonym: "partial lipodystrophy with Rieger anomaly and short stature" RELATED [GARD:0007633]
synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT [Orphanet:3163]
synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay" RELATED [GARD:0007633]
synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" RELATED [OMIM:269880]
synonym: "SHORT syndrome" EXACT CLINGEN_LABEL []
synonym: "short syndrome" EXACT [OMIM:269880]
xref: DOID:0111454 {source="MONDO:equivalentTo"}
xref: GARD:7633 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:3163/attributed", source="Orphanet:3163/ntbt", source="Orphanet:3163"}
xref: MEDGEN:164212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537327 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"}
xref: NORD:1710 {source="MONDO:NORD"}
xref: OMIM:269880 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"}
xref: Orphanet:3163 {source="OMIM:269880", source="MONDO:equivalentTo"}
xref: UMLS:C0878684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164212"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0015160 {source="Orphanet:3163"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015161 {source="Orphanet:3163"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0020087 {source="Orphanet:3163"} ! hereditary lipodystrophy
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:3163", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8979 {source="MONDO:mim2gene_medgen"} ! PIK3R1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010027
name: free sialic acid storage disease, infantile form
subset: gard_rare {source="GARD:175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309324"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile free sialic acid storage disease" RELATED [GARD:0000175]
synonym: "infantile sialic acid storage disease" RELATED [MONDO:Lexical, OMIM:269920]
synonym: "infantile sialic acid storage disorder" RELATED [GARD:0000175]
synonym: "ISSD" EXACT ABBREVIATION [GARD:0000175, MONDO:Lexical, OMIM:269920, Orphanet:309324]
synonym: "N-acetylneuraminic acid storage disease" RELATED [OMIM:269920]
synonym: "Nana storage disease" RELATED [OMIM:269920]
synonym: "sialic acid storage disorder, infantile" EXACT [OMIM:269920, OMIM:genemap2]
synonym: "sialuria, infantile form" RELATED [GARD:0000175, OMIM:269920]
xref: GARD:175 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309324", source="Orphanet:309324/attributed", source="Orphanet:309324/ntbt"}
xref: MedDRA:10067532 {source="Orphanet:309324/e", source="Orphanet:309324"}
xref: MEDGEN:203367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200147 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201237 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:269920 {source="Orphanet:309324/e", source="GARD:0000175", source="MONDO:equivalentTo", source="Orphanet:309324"}
xref: Orphanet:309324 {source="MONDO:equivalentTo", source="OMIM:269920"}
xref: Orphanet:834 {source="OMIM:269920"}
xref: SCTID:34566007 {source="MONDO:equivalentTo"}
xref: UMLS:C1096902 {source="MEDGEN:203367", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0019366 {source="Orphanet:309324"} ! free sialic acid storage disease
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10933 {source="MONDO:mim2gene_medgen"} ! SLC17A5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0010028
name: sialuria
def: "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." [Orphanet:3166]
subset: gard_rare {source="GARD:4865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3166"}
subset: orphanet_rare {source="Orphanet:3166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sialuria" EXACT [OMIM:269921]
synonym: "sialuria, French type" EXACT [OMIM:269921, Orphanet:3166]
xref: DOID:3659 {source="MONDO:equivalentTo"}
xref: GARD:4865 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:3166", source="Orphanet:3166/attributed", source="Orphanet:3166/ntbt"}
xref: ICD9:796.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10067529 {source="Orphanet:3166", source="Orphanet:3166/e"}
xref: MEDGEN:137980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537332 {source="Orphanet:3166", source="Orphanet:3166/e"}
xref: MESH:D029461 {source="DOID:3659"}
xref: NCIT:C85067 {source="DOID:3659"}
xref: OMIM:269921 {source="Orphanet:3166", source="MONDO:equivalentTo", source="Orphanet:3166/e", source="DOID:3659"}
xref: Orphanet:3166 {source="MONDO:equivalentTo", source="OMIM:269921"}
xref: SCTID:238051008 {source="MONDO:equivalentTo", source="DOID:3659"}
xref: UMLS:C0342853 {source="MEDGEN:137980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017736 {source="Orphanet:3166"} ! disorder of sialic acid metabolism
is_a: MONDO:0019366 ! free sialic acid storage disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23657 {source="MONDO:mim2gene_medgen"} ! GNE

[Term]
id: MONDO:0010029
name: situs inversus
def: "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)." [NCIT:P378]
subset: gard_rare {source="GARD:4883", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101063"}
subset: ordo_morphological_anomaly {source="Orphanet:101063"}
subset: orphanet_rare {source="Orphanet:101063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete situs inversus" EXACT [Orphanet:101063]
synonym: "complete situs inversus viscerum" EXACT [Orphanet:101063]
synonym: "complete transposition" RELATED EXCLUDE [DOID:758]
synonym: "complete transposition (morphologic abnormality)" EXACT [DOID:758]
synonym: "laterality sequence" EXACT [DOID:758]
synonym: "situs ambiguus" RELATED [NCIT:C87121]
synonym: "situs inversus" EXACT [Orphanet:101063]
synonym: "situs inversus totalis" EXACT [MONDO:ambiguous]
synonym: "situs inversus totalis (disease)" EXACT [MONDO:0015098]
xref: DOID:758 {source="MONDO:equivalentTo"}
xref: GARD:4883 {source="MONDO:GARD"}
xref: HP:0001696 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q89.3 {source="DOID:758", source="MONDO:equivalentTo", source="Orphanet:101063/ntbt", source="Orphanet:101063/inclusion", source="Orphanet:101063"}
xref: icd11.foundation:797648408 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101063"}
xref: ICD9:759.3 {source="DOID:758"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1642262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012857 {source="DOID:758", source="MONDO:equivalentTo"}
xref: NCIT:C87121 {source="DOID:758", source="MONDO:equivalentTo"}
xref: Orphanet:101063 {source="MONDO:equivalentTo"}
xref: Orphanet:450 {source="OMIM:270100"}
xref: SCTID:157025003 {source="DOID:758"}
xref: SCTID:157033002 {source="DOID:758"}
xref: SCTID:205765000 {source="DOID:758"}
xref: SCTID:205770007 {source="DOID:758"}
xref: SCTID:24614000 {source="MONDO:equivalentTo"}
xref: SCTID:254257004 {source="DOID:758"}
xref: SCTID:268359006 {source="DOID:758"}
xref: SCTID:27317008 {source="DOID:758"}
xref: SCTID:43876007 {source="DOID:758"}
xref: UMLS:C4551493 {source="MEDGEN:1642262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018677 {source="DC-OMIM:270100", source="DOID:758", source="OMIM:270100", source="Orphanet:101063"} ! visceral heterotaxy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2826" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010030
name: Sjogren syndrome
def: "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" [https://rarediseases.info.nih.gov/diseases/10252/sjogren-syndrome]
comment: Editor note: check for differences with Mik PMID:10845583
subset: gard_rare {source="GARD:10252", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:289390"}
subset: orphanet_rare {source="Orphanet:289390"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "primary Sjogren-Gougerot syndrome" EXACT [Orphanet:289390]
synonym: "primary Sjögren syndrome" RELATED [Orphanet:289390]
synonym: "primary Sjögren-Gougerot syndrome" EXACT [Orphanet:289390]
synonym: "sicca syndrome" EXACT [DOID:12894, ICD9CM:710.2, OMIM:270150, Orphanet:378]
synonym: "Sjogren syndrome" EXACT [DOID:12894, OMIM:270150]
synonym: "Sjogren's syndrome" RELATED [DOID:12894]
synonym: "Sjögren syndrome" EXACT [NCIT:C26883]
synonym: "Sjögren-Gougerot syndrome" EXACT [Orphanet:378]
synonym: "syndrome, Sjogren's" EXACT [NCIT:C26883]
synonym: "xerodermosteosis" EXACT [DOID:12894]
xref: DOID:12894 {source="MONDO:equivalentTo", source="EFO:0000699"}
xref: EFO:0000699 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10252 {source="MONDO:GARD"}
xref: ICD10CM:M35.0 {source="DOID:12894"}
xref: ICD10CM:M35.00 {source="DOID:12894"}
xref: icd11.foundation:899463360 {source="MONDO:equivalentTo", source="Orphanet:289390", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:710.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000699", source="DOID:12894"}
xref: MEDGEN:282890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012859 {source="MONDO:equivalentTo", source="EFO:0000699", source="DOID:12894"}
xref: NANDO:1200279 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200280 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200420 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26883 {source="MONDO:equivalentTo", source="EFO:0000699", source="DOID:12894"}
xref: NCIT:C70647 {source="DOID:12894"}
xref: OMIM:270150 {source="MONDO:equivalentTo", source="EFO:0000699", source="DOID:12894"}
xref: Orphanet:289390 {source="MONDO:equivalentTo"}
xref: Orphanet:378 {source="MONDO:equivalentObsolete", source="OMIM:270150"}
xref: SCTID:156455009 {source="DOID:12894"}
xref: SCTID:201444003 {source="DOID:12894"}
xref: SCTID:267875002 {source="DOID:12894"}
xref: SCTID:268050000 {source="DOID:12894"}
xref: SCTID:83901003 {source="MONDO:equivalentTo", source="DOID:12894"}
xref: UMLS:C1527336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:282890"}
is_a: MONDO:0001142 {source="MESH:D012859/inferred", source="MONDO:Redundant"} ! salivary gland disorder
is_a: MONDO:0001854 {source="MONDO:Redundant"} ! lacrimal apparatus disorder
is_a: MONDO:0002254 {source="NCIT:C26883"} ! syndromic disease
is_a: MONDO:0007179 {source="DOID:12894", source="EFO:0000699", source="MESH:D012859/inferred", source="MONDO:Redundant", source="NCIT:C26883"} ! autoimmune disease
relationship: disease_has_feature HP:0001097 {source="MONDO:Wikidata"} ! Keratoconjunctivitis sicca
relationship: disease_has_location UBERON:0001044 {source="EFO:0000784"} ! saliva-secreting gland
relationship: disease_has_location UBERON:0001817 {source="EFO:0000784"} ! lacrimal gland
relationship: disease_shares_features_of MONDO:0019191 {source="PMID:10845583"} ! IgG4-related dacryoadenitis and sialadenitis

[Term]
id: MONDO:0010031
name: Sjogren-Larsson syndrome
def: "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." [Orphanet:816]
subset: gard_rare {source="GARD:7654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1377"}
subset: ordo_disorder {source="Orphanet:816"}
subset: orphanet_rare {source="Orphanet:816"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FADH deficiency" RELATED [GARD:0007654]
synonym: "FALDH deficiency" RELATED [OMIM:270200]
synonym: "FAO deficiency" RELATED [GARD:0007654]
synonym: "fatty acid alcohol oxidoreductase deficiency" EXACT [Orphanet:816]
synonym: "fatty alcohol:NAD+ oxidoreductase deficiency" RELATED [OMIM:270200]
synonym: "fatty aldehyde dehydrogenase deficiency" RELATED [OMIM:270200]
synonym: "ichthyosis, spastic neurologic disorder, and oligophrenia" RELATED [OMIM:270200]
synonym: "Senior-Løken Syndrome" EXACT [NORD:1377]
synonym: "Sjogren Larsson syndrome" EXACT [DOID:14501]
synonym: "Sjogren-Larsson syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:270200]
synonym: "Sjogren-Larsson's syndrome" EXACT [DOID:14501]
synonym: "Sjögren-Larsson syndrome" RELATED [GARD:0007654]
synonym: "SLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:270200]
xref: DOID:14501 {source="MONDO:equivalentTo"}
xref: GARD:7654 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:816", source="Orphanet:816/index", source="Orphanet:816/e"}
xref: icd11.foundation:418359090 {source="MONDO:equivalentTo", source="Orphanet:816", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10048676 {source="Orphanet:816", source="Orphanet:816/e"}
xref: MEDGEN:11443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016111 {source="MONDO:equivalentTo", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501"}
xref: NANDO:1200620 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200994 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85070 {source="MONDO:equivalentTo", source="DOID:14501"}
xref: NORD:1377 {source="MONDO:NORD"}
xref: OMIM:270200 {source="MONDO:equivalentTo", source="Orphanet:816", source="Orphanet:816/e", source="DOID:14501"}
xref: Orphanet:816 {source="MONDO:equivalentTo", source="OMIM:270200"}
xref: SCTID:111303009 {source="MONDO:equivalentTo", source="DOID:14501"}
xref: SCTID:205549003 {source="DOID:14501"}
xref: UMLS:C0037231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11443"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85070", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0006025 {source="DOID:14501", source="MONDO:indirect"} ! autosomal recessive disease
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0019046 {source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:270200", source="Orphanet:816"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/403 {source="MONDO:mim2gene_medgen"} ! ALDH3A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome" xsd:anyURI {source="GARD:0007654"}

[Term]
id: MONDO:0010032
name: Sjogren-Larsson-like ichthyosis without CNS or eye involvement
synonym: "ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement" RELATED [OMIM:270220]
synonym: "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" EXACT [OMIM:270220]
synonym: "Sjogren-Larsson-like syndrome" RELATED [GARD:0004885]
xref: MEDGEN:336532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536668 {source="MONDO:equivalentTo"}
xref: OMIM:270220 {source="MONDO:equivalentTo"}
xref: UMLS:C1849195 {source="MEDGEN:336532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536668/inferred"} ! hereditary disease
relationship: disease_shares_features_of MONDO:0010031 ! Sjogren-Larsson syndrome

[Term]
id: MONDO:0010033
name: generalized peeling skin syndrome
def: "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." [Orphanet:263543]
subset: gard_rare {source="GARD:12862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263543"}
subset: orphanet_rare {source="Orphanet:263543"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "generalised deciduous skin" EXACT OMO:0003005 []
synonym: "generalised PSS" EXACT OMO:0003005 []
synonym: "generalized deciduous skin" EXACT [Orphanet:263543]
synonym: "generalized PSS" EXACT [Orphanet:263543]
synonym: "peeling skin syndrome 1" RELATED [MONDO:Lexical, OMIM:270300]
synonym: "peeling skin syndrome type 1" EXACT [MONDORULE:1, OMIM:270300]
synonym: "PSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270300]
xref: GARD:12862 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:263543", source="Orphanet:263543/attributed", source="Orphanet:263543/ntbt"}
xref: MEDGEN:930825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263543 {source="MONDO:equivalentTo", source="OMIM:270300"}
xref: Orphanet:263553 {source="OMIM:270300"}
xref: SCTID:718749004 {source="MONDO:equivalentTo"}
xref: UMLS:C4305156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930825"}
is_a: MONDO:0019347 {source="DC-OMIM:270300", source="OMIM:270300", source="Orphanet:263543"} ! peeling skin syndrome

[Term]
id: MONDO:0010034
name: obsolete anosmia for butyl mercaptan
synonym: "skunk N-butyl mercaptan, inability to smell" RELATED [OMIM:270350]
synonym: "skunk N-BUTYLMERCAPTAN, inability to smell" RELATED [OMIM:270350]
xref: OMIM:270350 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: HP:0000458

[Term]
id: MONDO:0010035
name: Smith-Lemli-Opitz syndrome
def: "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." [Orphanet:818]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1724"}
subset: ordo_disorder {source="Orphanet:818"}
subset: ordo_malformation_syndrome {source="Orphanet:818"}
subset: orphanet_rare {source="Orphanet:818"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "7-dehydrocholesterol reductase deficiency" EXACT [Orphanet:818]
synonym: "lethal acrodysgenital syndrome" RELATED [OMIM:270400]
synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobar lung" RELATED [OMIM:270400]
synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobular lung" RELATED [GARD:0005683]
synonym: "RSH syndrome" EXACT [OMIM:270400, Orphanet:818]
synonym: "Rutledge lethal multiple congenital anomaly syndrome" EXACT [DOID:14692, OMIM:270400]
synonym: "SLO syndrome" EXACT [OMIM:270400]
synonym: "SLOS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:270400, Orphanet:818]
synonym: "Smith Lemli Opitz syndrome" RELATED [GARD:0005683]
synonym: "Smith-Lemli-Opitz syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:270400]
synonym: "Smith-Opitz-inborn syndrome" EXACT [DOID:14692]
xref: DOID:14692 {source="MONDO:equivalentTo"}
xref: GARD:5683 {source="MONDO:GARD"}
xref: ICD10CM:E78.72 {source="DOID:14692", source="MONDO:equivalentTo"}
xref: ICD10CM:Q87.1 {source="Orphanet:818/inclusion", source="Orphanet:818", source="Orphanet:818/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:61231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019082 {source="Orphanet:818/e", source="DOID:14692", source="MONDO:equivalentTo", source="Orphanet:818"}
xref: NANDO:1200961 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200979 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85071 {source="DOID:14692", source="MONDO:equivalentTo"}
xref: NORD:1724 {source="MONDO:NORD"}
xref: OMIM:270400 {source="Orphanet:818/e", source="DOID:14692", source="MONDO:equivalentTo", source="Orphanet:818"}
xref: Orphanet:818 {source="OMIM:270400", source="MONDO:equivalentTo"}
xref: SCTID:43929004 {source="DOID:14692", source="MONDO:equivalentTo"}
xref: UMLS:C0175694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61231"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85071"} ! syndromic disease
is_a: MONDO:0002525 {source="MONDO:Redundant", source="MONDO:indirect"} ! inherited lipid metabolism disorder
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0015159 {source="Orphanet:818"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019240 {source="Orphanet:818"} ! sterol biosynthesis disorder
relationship: disease_has_basis_in_disruption_of GO:0006695 ! cholesterol biosynthetic process
relationship: disease_has_basis_in_disruption_of GO:0047598 ! 7-dehydrocholesterol reductase activity
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015123"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2860 {source="MONDO:mim2gene_medgen", source="PMID:15670717"} ! DHCR7
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome" xsd:anyURI {source="GARD:0005683"}

[Term]
id: MONDO:0010036
name: congenital secretory sodium diarrhea 3
def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18260", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital secretory sodium diarrhea 3 syndromic" EXACT [DOID:0060781]
synonym: "congenital secretory sodium diarrhea 3 with or without other congenital anomalies" EXACT [DOID:0060781]
synonym: "congenital secretory sodium diarrhea type 3" EXACT [DOID:0060781, MONDORULE:1]
synonym: "congenital secretory sodium diarrhoea 3 syndromic" EXACT OMO:0003005 []
synonym: "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies" EXACT OMO:0003005 []
synonym: "congenital secretory sodium diarrhoea type 3" EXACT OMO:0003005 []
synonym: "DIAR3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270420]
synonym: "diarrhea 3, secretory sodium, congenital, syndromic" RELATED [OMIM:270420]
synonym: "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED [MONDO:Lexical, OMIM:270420]
synonym: "diarrhoea 3, secretory sodium, congenital, syndromic" RELATED OMO:0003005 []
synonym: "diarrhoea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED OMO:0003005 []
synonym: "secretory diarrhea caused by mutation in SPINT2" EXACT [MONDO:design_pattern]
synonym: "secretory diarrhoea caused by mutation in SPINT2" EXACT OMO:0003005 []
synonym: "sodium diarrhea, congenital" RELATED [OMIM:270420]
synonym: "SPINT2 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SPINT2 secretory diarrhoea" EXACT OMO:0003005 []
xref: DOID:0060781 {source="MONDO:equivalentTo"}
xref: GARD:18260 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="DOID:0060781"}
xref: MEDGEN:1778108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:270420 {source="DOID:0060781", source="MONDO:equivalentTo"}
xref: Orphanet:103908 {source="DOID:0060781", source="OMIM:270420"}
xref: UMLS:C5441927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778108"}
is_a: MONDO:0000249 {source="DOID:0060781", source="MONDO:indirect"} ! secretory diarrhea
is_a: MONDO:0000824 {source="DC-OMIM:270420", source="MONDO:Redundant", source="OMIM:270420"} ! congenital diarrhea
is_a: MONDO:0015170 {source="Orphanet:103908/btnt"} ! congenital sodium diarrhea
is_a: MONDO:0045032 {source="MONDO:Redundant"} ! congenital secretory diarrhea
intersection_of: MONDO:0000249 ! secretory diarrhea
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11247 ! SPINT2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11247 {source="MONDO:mim2gene_medgen"} ! SPINT2

[Term]
id: MONDO:0010037
name: sodium-potassium-ATPase activity of red cell
synonym: "sodium pump sites, number of" RELATED [OMIM:270425]
synonym: "sodium-potassium-ATPase activity of red cell" EXACT [OMIM:270425]
xref: MEDGEN:376532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:270425 {source="MONDO:equivalentTo"}
xref: UMLS:C1849169 {source="MEDGEN:376532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010038
name: growth delay due to insulin-like growth factor I resistance
def: "Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)." [Orphanet:73273]
subset: gard_rare {source="GARD:10609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:73273"}
subset: orphanet_rare {source="Orphanet:73273"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "growth delay due to insulin-like growth factor I resistance" EXACT CLINGEN_LABEL []
synonym: "IGF-1 resistance" RELATED [GARD:0010609]
synonym: "IGF-I resistance" RELATED [OMIM:270450]
synonym: "IGF1RES" RELATED ABBREVIATION [OMIM:270450]
synonym: "insulin-like growth factor 1 resistance to" RELATED [GARD:0010609]
synonym: "insulin-like growth factor I, resistance to" RELATED [OMIM:270450]
synonym: "insulin-like Growth Factor I, resistance to, due to increased binding Protein" RELATED [OMIM:270450]
synonym: "resistance to IGF-1" EXACT [Orphanet:73273]
synonym: "Somatomedin end-organ insensitivity to" RELATED [GARD:0010609]
synonym: "Somatomedin, end-organ insensitivity to" RELATED [OMIM:270450]
synonym: "Somatomedin-c resistance to" RELATED [GARD:0010609]
synonym: "Somatomedin-C, resistance to" RELATED [OMIM:270450]
xref: GARD:10609 {source="MONDO:GARD"}
xref: ICD10CM:E34.3 {source="Orphanet:73273/attributed", source="Orphanet:73273/ntbt", source="Orphanet:73273"}
xref: MEDGEN:338622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564816 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:2200320 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:270450 {source="GARD:0010609", source="Orphanet:73273/e", source="MONDO:equivalentTo", source="Orphanet:73273"}
xref: Orphanet:73273 {source="GARD:0010609", source="MONDO:equivalentTo", source="OMIM:270450"}
xref: SCTID:715625007 {source="MONDO:equivalentTo"}
xref: UMLS:C1849157 {source="MEDGEN:338622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015892 {source="Orphanet:73273"} ! growth hormone insensitivity syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5465 {source="MONDO:mim2gene_medgen"} ! IGF1R
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to" xsd:anyURI {source="GARD:0010609"}

[Term]
id: MONDO:0010039
name: congenital heart defect-round face-developmental delay syndrome
def: "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." [Orphanet:1355]
subset: gard_rare {source="GARD:4905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1355"}
subset: ordo_malformation_syndrome {source="Orphanet:1355"}
subset: orphanet_rare {source="Orphanet:1355"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development" RELATED [OMIM:270460]
synonym: "Sonoda syndrome" EXACT [OMIM:270460, Orphanet:1355]
xref: GARD:4905 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1355/attributed", source="Orphanet:1355/ntbt", source="Orphanet:1355"}
xref: MEDGEN:167108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536680 {source="MONDO:equivalentTo"}
xref: OMIM:270460 {source="Orphanet:1355", source="MONDO:equivalentTo", source="Orphanet:1355/e"}
xref: Orphanet:1355 {source="MONDO:equivalentTo", source="OMIM:270460"}
xref: SCTID:715987000 {source="MONDO:equivalentTo"}
xref: UMLS:C0796162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167108"}
is_a: MONDO:0015159 {source="Orphanet:1355"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1355", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010040
name: ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability
synonym: "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability" EXACT [OMIM:270500]
synonym: "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation" EXACT DEPRECATED [OMIM:270500]
xref: MEDGEN:462969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:270500 {source="MONDO:equivalentTo"}
xref: UMLS:C3151619 {source="MEDGEN:462969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010041
name: Charlevoix-Saguenay spastic ataxia
def: "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." [Orphanet:98]
subset: gard_rare {source="GARD:4910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98"}
subset: orphanet_rare {source="Orphanet:98"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARSACS" EXACT ABBREVIATION [Orphanet:98]
synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" RELATED [OMIM:270550]
synonym: "autosomal recessive spastic ataxia type 6" EXACT [Orphanet:98]
synonym: "Charlevoix-Saguenay spastic ataxia" EXACT CLINGEN_LABEL [OMIM:270550]
synonym: "sacs" RELATED [MONDO:Lexical, OMIM:270550]
synonym: "spastic ataxia 6, autosomal recessive" RELATED [OMIM:270550]
synonym: "spastic ataxia Charlevoix-Saguenay type" RELATED [GARD:0004910]
synonym: "spastic ataxia of Charlevoix-Saguenay" RELATED [GARD:0004910]
synonym: "spastic ataxia, Charlevoix-Saguenay type" RELATED [MONDO:Lexical, OMIM:270550]
synonym: "SPAX6" EXACT ABBREVIATION [Orphanet:98]
xref: DOID:0050946 {source="MONDO:equivalentTo"}
xref: GARD:4910 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:98", source="Orphanet:98/attributed", source="Orphanet:98/ntbt"}
xref: MEDGEN:338620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536787 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e"}
xref: OMIM:270550 {source="Orphanet:98", source="MONDO:equivalentTo", source="Orphanet:98/e", source="DOID:0050946"}
xref: Orphanet:98 {source="MONDO:equivalentTo", source="OMIM:270550"}
xref: SCTID:702445005 {source="MONDO:equivalentTo"}
xref: UMLS:C1849140 {source="MEDGEN:338620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="DOID:0050946", source="MONDO:indirect"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:270550", source="Orphanet:98/inferred"} ! spastic ataxia
is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:98"} ! autosomal recessive spastic ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10519 {source="MONDO:mim2gene_medgen"} ! SACS

[Term]
id: MONDO:0010042
name: spastic diplegia and intellectual disability
synonym: "hereditary spastic diplegia with intellectual disability" RELATED [GARD:0004911]
synonym: "hereditary spastic diplegia with mental retardation" RELATED DEPRECATED [GARD:0004911]
synonym: "spastic diplegia and intellectual disability" EXACT [OMIM:270600]
synonym: "spastic diplegia and mental retardation" EXACT DEPRECATED [OMIM:270600]
synonym: "spastic diplegia infantile type" RELATED [GARD:0004911]
synonym: "spastic diplegia, infantile type" RELATED [OMIM:270600]
xref: MEDGEN:376526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537481 {source="MONDO:equivalentTo"}
xref: OMIM:270600 {source="MONDO:equivalentTo"}
xref: Orphanet:1680 {source="OMIM:270600"}
xref: UMLS:C1849139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376526"}
is_a: MONDO:0003847 {source="MESH:C537481/inferred"} ! hereditary disease

[Term]
id: MONDO:0010043
name: hereditary spastic paraplegia 17
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100998"}
subset: orphanet_rare {source="Orphanet:100998"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 17" EXACT [DOID:0110770]
synonym: "autosomal dominant spastic paraplegia type 17" EXACT [DOID:0110770]
synonym: "BSCL2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dHMN5B" EXACT [DOID:0110770]
synonym: "distal hereditary motor neuropathy type 5B" EXACT [DOID:0110770]
synonym: "hereditary spastic paraplegia caused by mutation in BSCL2" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 17" EXACT [DOID:0110770, MONDORULE:2]
synonym: "Silver spastic paraplegia syndrome" EXACT [DOID:0110770]
synonym: "Silver syndrome" EXACT [DOID:0110770, Orphanet:100998]
synonym: "spastic paraplegia 17" RELATED [GARD:0004219]
synonym: "spastic paraplegia 17, autosomal dominant" RELATED [MONDO:Lexical, OMIM:270685]
synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT [DOID:0110770, OMIM:270685]
synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [DOID:0110770, Orphanet:100998]
synonym: "SPG17" EXACT ABBREVIATION [DOID:0110770, MONDO:Lexical, OMIM:270685, Orphanet:100998]
xref: DOID:0110770 {source="MONDO:equivalentTo"}
xref: GARD:4219 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:100998", source="DOID:0110770", source="Orphanet:100998/attributed", source="Orphanet:100998/ntbt"}
xref: MEDGEN:419034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536644 {source="MONDO:equivalentTo"}
xref: OMIM:270685 {source="MONDO:equivalentTo", source="Orphanet:100998", source="DOID:0110770", source="Orphanet:100998/e"}
xref: Orphanet:100998 {source="MONDO:equivalentTo", source="DOID:0110770", source="OMIM:270685"}
xref: UMLS:C2931276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419034"}
is_a: MONDO:0015087 {source="Orphanet:100998"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0015362 {source="Orphanet:100998"} ! neuronopathy, distal hereditary motor, autosomal dominant
is_a: MONDO:0019064 {source="DOID:0110770", source="MESH:C536644", source="MONDO:Redundant", source="OMIM:270685", source="Orphanet:100998/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 ! BSCL2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 {source="MONDO:mim2gene_medgen"} ! BSCL2

[Term]
id: MONDO:0010044
name: hereditary spastic paraplegia 15
def: "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." [Orphanet:100996]
subset: gard_rare {source="GARD:9581", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100996"}
subset: orphanet_rare {source="Orphanet:100996"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 15" EXACT [DOID:0110768]
synonym: "autosomal recessive spastic paraplegia type 15" EXACT [DOID:0110768]
synonym: "hereditary spastic paraparesis type 15" EXACT [DOID:0110768, Orphanet:100996]
synonym: "hereditary spastic paraplegia 15" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia type 15" EXACT [DOID:0110768, MONDORULE:2]
synonym: "Kjellin syndrome" EXACT [DOID:0110768, OMIM:270700, Orphanet:100996]
synonym: "recessive spastic paraplegia with retinal degeneration" RELATED [GARD:0009581]
synonym: "spastic paraplegia 15" RELATED [GARD:0009581]
synonym: "spastic paraplegia 15, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270700]
synonym: "spastic paraplegia and retinal Degeneration" RELATED [OMIM:270700]
synonym: "spastic paraplegia and retinal degeneration" EXACT [DOID:0110768]
synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [DOID:0110768, Orphanet:100996]
synonym: "SPG15" EXACT ABBREVIATION [DOID:0110768, MONDO:Lexical, OMIM:270700, Orphanet:100996]
synonym: "ZFYVE26 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110768 {source="MONDO:equivalentTo"}
xref: GARD:9581 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110768", source="Orphanet:100996", source="Orphanet:100996/attributed", source="Orphanet:100996/ntbt"}
xref: MEDGEN:341387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536642 {source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"}
xref: OMIM:270700 {source="DOID:0110768", source="MONDO:equivalentTo", source="Orphanet:100996", source="Orphanet:100996/e"}
xref: Orphanet:100996 {source="OMIM:270700", source="DOID:0110768", source="MONDO:equivalentTo"}
xref: SCTID:709417000 {source="MONDO:equivalentTo"}
xref: UMLS:C1849128 {source="MEDGEN:341387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110768", source="MESH:C536642", source="MONDO:Redundant", source="OMIM:270700", source="Orphanet:100996/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20761 {source="MONDO:mim2gene_medgen"} ! ZFYVE26
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010045
name: obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome
def: "OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." [Orphanet:2823]
comment: Obsolete in OMIM and Orphanet.
synonym: "Fitzsimmons syndrome" RELATED [OMIM:270710]
synonym: "FITZSIMMONS-Guilbert syndrome" RELATED [OMIM:270710]
synonym: "Fitzsimmons-Guilbert syndrome" EXACT [Orphanet:2823]
synonym: "moved to 270550, 190350, and 616944" RELATED [OMIM:270710]
synonym: "spastic paraplegia associated with brachydactyly type E" RELATED [OMIM:270710]
xref: MESH:C537938 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:270710 {source="Orphanet:2823", source="Orphanet:2823/e", source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:2823 {source="OMIM:270710", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1686" xsd:anyURI
is_obsolete: true
consider: MONDO:0008596
consider: MONDO:0010041
consider: MONDO:0014842

[Term]
id: MONDO:0010046
name: hereditary spastic paraplegia 23
def: "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." [Orphanet:101003]
subset: gard_rare {source="GARD:336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101003"}
subset: orphanet_rare {source="Orphanet:101003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia type 23" RELATED [Orphanet:101003]
synonym: "DSTYK autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 23" EXACT [DOID:0110774, MONDORULE:2]
synonym: "Lison syndrome" EXACT [DOID:0110774, Orphanet:101003]
synonym: "spastic paraparesis, vitiligo, premature graying, characteristic facies" RELATED [OMIM:270750]
synonym: "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" EXACT [DOID:0110774, Orphanet:101003]
synonym: "spastic paraplegia 23" EXACT [DOID:0110774, MONDO:Lexical, OMIM:270750]
synonym: "spastic paraplegia and pigmentary abnormalities" RELATED [GARD:0000336]
synonym: "spastic paraplegia vitiligo premature graying and characteristic facies" RELATED [GARD:0000336]
synonym: "spastic paraplegia vitiligo premature greying and characteristic facies" RELATED OMO:0003005 []
synonym: "spastic paraplegia with pigmentary abnormalities" EXACT [DOID:0110774, OMIM:270750]
synonym: "SPG 23" RELATED [GARD:0000336]
synonym: "SPG23" EXACT ABBREVIATION [DOID:0110774, MONDO:Lexical, OMIM:270750, Orphanet:101003]
xref: DOID:0110774 {source="MONDO:equivalentTo"}
xref: GARD:336 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:101003", source="Orphanet:101003/attributed", source="Orphanet:101003/ntbt", source="DOID:0110774"}
xref: MEDGEN:167094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536859 {source="MONDO:equivalentTo"}
xref: OMIM:270750 {source="Orphanet:101003", source="MONDO:equivalentTo", source="Orphanet:101003/e", source="DOID:0110774"}
xref: Orphanet:101003 {source="MONDO:equivalentTo", source="DOID:0110774", source="OMIM:270750"}
xref: SCTID:726608002 {source="MONDO:equivalentTo"}
xref: UMLS:C0796019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167094"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110774", source="MESH:C536859", source="MONDO:Redundant", source="OMIM:270750", source="Orphanet:101003/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29043 {source="MONDO:mim2gene_medgen"} ! DSTYK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010047
name: hereditary spastic paraplegia 5A
def: "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." [Orphanet:100986]
comment: OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. {source="OMIM:270800"}
subset: gard_rare {source="GARD:4926", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100986"}
subset: orphanet_rare {source="Orphanet:100986"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia" RELATED [GARD:0004926]
synonym: "autosomal recessive spastic paraplegia 5A" EXACT [DOID:0110810]
synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [DOID:0110810]
synonym: "CYP7B1 pure or complex autosomal recessive spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 5A" EXACT [DOID:0110810, MONDORULE:4]
synonym: "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1" EXACT [MONDO:design_pattern]
synonym: "spastic paraplegia 5A" RELATED [GARD:0004926]
synonym: "spastic paraplegia 5A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270800]
synonym: "spastic paraplegia type 5A" RELATED [GARD:0004926]
synonym: "spastic paraplegia type 5B, recessive" EXACT [OMIM:270800]
synonym: "SPG5A" EXACT ABBREVIATION [DOID:0110810, MONDO:Lexical, OMIM:270800, Orphanet:100986]
xref: DOID:0110810 {source="MONDO:equivalentTo"}
xref: GARD:4926 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110810", source="Orphanet:100986", source="Orphanet:100986/attributed", source="Orphanet:100986/ntbt"}
xref: MEDGEN:376521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536871 {source="Orphanet:100986", source="Orphanet:100986/e"}
xref: OMIM:270800 {source="DOID:0110810", source="MONDO:equivalentTo", source="Orphanet:100986", source="Orphanet:100986/e"}
xref: Orphanet:100986 {source="DOID:0110810", source="OMIM:270800", source="MONDO:equivalentTo"}
xref: SCTID:763373005 {source="MONDO:equivalentTo"}
xref: UMLS:C1849115 {source="MEDGEN:376521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110810", source="MONDO:Redundant", source="OMIM:270800", source="Orphanet:100986/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2652 {source="MONDO:mim2gene_medgen"} ! CYP7B1

[Term]
id: MONDO:0010048
name: spastic paraplegia with myoclonic epilepsy
synonym: "spastic paraplegia with myoclonic epilepsy" EXACT [OMIM:270805]
xref: MEDGEN:338615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564810 {source="MONDO:equivalentTo"}
xref: OMIM:270805 {source="MONDO:equivalentTo"}
xref: UMLS:C1849114 {source="MEDGEN:338615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564810/inferred"} ! hereditary disease

[Term]
id: MONDO:0010049
name: spastic paraplegia-glaucoma-intellectual disability syndrome
def: "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive." [Orphanet:2818]
subset: gard_rare {source="GARD:4931", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2818"}
subset: orphanet_rare {source="Orphanet:2818"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spastic paresis glaucoma intellectual disability" RELATED [GARD:0004931]
synonym: "spastic paresis glaucoma mental retardation" RELATED DEPRECATED [GARD:0004931]
synonym: "spastic paresis, glaucoma, and intellectual disability" RELATED [OMIM:270850]
synonym: "spastic paresis, glaucoma, and mental retardation" RELATED DEPRECATED [OMIM:270850]
xref: GARD:4931 {source="MONDO:GARD"}
xref: MEDGEN:376520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564809 {source="MONDO:equivalentTo"}
xref: OMIM:270850 {source="Orphanet:2818/e", source="MONDO:equivalentTo", source="Orphanet:2818"}
xref: Orphanet:2818 {source="MONDO:equivalentTo", source="OMIM:270850"}
xref: UMLS:C1849113 {source="MONDO:equivalentTo", source="MEDGEN:376520", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2818", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010050
name: obsolete spastic pseudosclerosis
synonym: "corticopallidodegeneration" RELATED [OMIM:270900]
synonym: "disseminated encephalomyelopathy" RELATED [OMIM:270900]
synonym: "spastic pseudosclerosis" EXACT [OMIM:270900]
xref: MESH:C563024 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:270900 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5129" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0010051
name: spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
def: "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents." [Orphanet:3011]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:4932", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3011"}
subset: orphanet_rare {source="Orphanet:3011"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss" RELATED [GARD:0004932]
synonym: "progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss" RELATED DEPRECATED [GARD:0004932]
synonym: "spastic quadriplegia retinitis pigmentosa intellectual disability" RELATED [GARD:0004932]
synonym: "spastic quadriplegia retinitis pigmentosa mental retardation" RELATED DEPRECATED [GARD:0004932]
synonym: "spastic quadriplegia, retinitis pigmentosa, and intellectual disability" RELATED [OMIM:270950]
synonym: "spastic quadriplegia, retinitis pigmentosa, and mental retardation" RELATED DEPRECATED [OMIM:270950]
synonym: "spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome" EXACT [Orphanet:3011]
xref: GARD:4932 {source="MONDO:GARD"}
xref: MEDGEN:376519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564808 {source="MONDO:equivalentTo"}
xref: OMIM:270950 {source="Orphanet:3011/e", source="MONDO:equivalentTo", source="Orphanet:3011"}
xref: Orphanet:3011 {source="OMIM:270950", source="MONDO:equivalentTo"}
xref: UMLS:C1849112 {source="MEDGEN:376519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3011", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010052
name: spermatogenic failure 4
def: "Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15235", source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "arrest of spermatogenesis" RELATED [GARD:0008530]
synonym: "azoospermia caused by mutation in SYCP3" EXACT [MONDO:design_pattern]
synonym: "azoospermia due to Perturbations of meiosis" RELATED [OMIM:270960]
synonym: "azoospermia with maturation arrest" RELATED [OMIM:270960]
synonym: "pregnancy loss, recurrent, 4" RELATED [OMIM:270960]
synonym: "pregnancy loss, recurrent, susceptibility to, 4" RELATED [OMIM:270960]
synonym: "spermatogenesis arrest" RELATED [OMIM:270960]
synonym: "spermatogenic failure 4" EXACT [MONDO:Lexical, OMIM:270960]
synonym: "spermatogenic failure type 4" EXACT [MONDORULE:1, OMIM:270960]
synonym: "SPGF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270960]
synonym: "SYCP3 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070176 {source="MONDO:equivalentTo"}
xref: GARD:15235 {source="MONDO:GARD"}
xref: MEDGEN:68568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536875 {source="MONDO:equivalentTo"}
xref: OMIM:270960 {source="MONDO:equivalentTo"}
xref: Orphanet:217034 {source="OMIM:270960"}
xref: UMLS:C0232981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68568"}
is_a: MONDO:0004983 {source="DC-OMIM:270960", source="MESH:C536875", source="MONDO:Redundant", source="OMIM:270960"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18130 ! SYCP3
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18130 ! SYCP3
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18130 {source="MONDO:mim2gene_medgen"} ! SYCP3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18130 {source="MONDO:mim2gene_medgen"} ! SYCP3

[Term]
id: MONDO:0010053
name: hereditary spherocytosis type 3
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary spherocytosis 3" EXACT [DOID:0110918]
synonym: "hereditary spherocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern]
synonym: "HS3" EXACT ABBREVIATION [DOID:0110918]
synonym: "SPH3" EXACT ABBREVIATION [DOID:0110918, MONDO:Lexical, OMIM:270970]
synonym: "spherocytosis, hereditary, 3" RELATED [OMIM:270970]
synonym: "spherocytosis, type 3" RELATED [MONDO:Lexical, OMIM:270970]
synonym: "SPTA1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110918 {source="MONDO:equivalentTo"}
xref: GARD:15236 {source="MONDO:GARD"}
xref: MEDGEN:394798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567489 {source="MONDO:equivalentTo"}
xref: OMIM:270970 {source="MONDO:equivalentTo", source="DOID:0110918"}
xref: Orphanet:822 {source="OMIM:270970"}
xref: UMLS:C2678338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394798"}
is_a: MONDO:0019350 {source="DOID:0110918", source="MESH:C567489", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
intersection_of: MONDO:0019350 ! hereditary spherocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 ! SPTA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11272 {source="MONDO:mim2gene_medgen"} ! SPTA1

[Term]
id: MONDO:0010054
name: spinal muscular atrophy with intellectual disability
synonym: "spinal muscular atrophy with intellectual disability" EXACT [OMIM:271109]
synonym: "spinal muscular atrophy with mental retardation" EXACT DEPRECATED [OMIM:271109]
xref: MEDGEN:376518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564807 {source="MONDO:equivalentTo"}
xref: OMIM:271109 {source="MONDO:equivalentTo"}
xref: UMLS:C1849109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376518"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010055
name: spinal muscular atrophy with microcephaly and mental subnormality
synonym: "spinal muscular atrophy with microcephaly and mental subnormality" EXACT [OMIM:271110]
xref: MEDGEN:341384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564806 {source="MONDO:equivalentTo"}
xref: OMIM:271110 {source="MONDO:equivalentTo"}
xref: UMLS:C1849108 {source="MEDGEN:341384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564806/inferred"} ! hereditary disease

[Term]
id: MONDO:0010056
name: spinal muscular atrophy, type IV
def: "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83420]
subset: gard_rare {source="GARD:564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:83420"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult spinal muscular atrophy" EXACT [DOID:0050529]
synonym: "adult-onset spinal muscular atrophy" RELATED [GARD:0000564]
synonym: "proximal spinal muscular atrophy type 4" RELATED [Orphanet:83420]
synonym: "SMA 4" RELATED [GARD:0000564]
synonym: "SMA type 4" EXACT [Orphanet:83420]
synonym: "SMA type IV" EXACT [Orphanet:83420]
synonym: "SMA-IV" EXACT [Orphanet:83420]
synonym: "SMA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271150, Orphanet:83420]
synonym: "spinal muscular atrophy 4" RELATED [GARD:0000564]
synonym: "spinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "spinal muscular atrophy type 4" RELATED [GARD:0000564]
synonym: "spinal muscular atrophy, adult form" EXACT [DOID:0050529, GARD:0000564, OMIM:271150, Orphanet:83420]
synonym: "spinal muscular atrophy, proximal, adult, autosomal recessive" RELATED [GARD:0000564, OMIM:271150]
synonym: "spinal muscular atrophy, type 4" RELATED [OMIM:271150]
synonym: "spinal muscular atrophy, type IV" EXACT [DOID:0050529, MONDO:Lexical, OMIM:271150]
synonym: "spinal muscular atrophy-4" EXACT [OMIM:271150, OMIM:genemap2]
xref: DOID:0050529 {source="MONDO:equivalentTo"}
xref: GARD:564 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:83420/inclusion", source="Orphanet:83420", source="Orphanet:83420/ntbt"}
xref: icd11.foundation:443229384 {source="Orphanet:83420", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:325364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563948 {source="MONDO:equivalentTo"}
xref: NANDO:1200007 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:271150 {source="Orphanet:83420", source="MONDO:equivalentTo", source="Orphanet:83420/e", source="DOID:0050529"}
xref: Orphanet:70 {source="OMIM:271150"}
xref: Orphanet:83420 {source="MONDO:equivalentTo", source="OMIM:271150"}
xref: SCTID:85505000 {source="MONDO:equivalentTo"}
xref: UMLS:C1838230 {source="MEDGEN:325364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019079 {source="Orphanet:83420"} ! proximal spinal muscular atrophy
is_a: MONDO:0024237 {source="MONDO:indirect"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="MONDO:mim2gene_medgen"} ! SMN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010057
name: spinal muscular atrophy, Ryukyuan type
subset: gard_rare {source="GARD:9646", source="MONDO:GARD"}
subset: rare
synonym: "Ryukyuan muscular atrophy" RELATED [GARD:0009646]
synonym: "spinal muscular atrophy Ryukyuan type" RELATED [GARD:0009646]
synonym: "spinal muscular atrophy, Ryukyuan type" EXACT [OMIM:271200]
xref: GARD:9646 {source="MONDO:GARD"}
xref: MEDGEN:376517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536881 {source="MONDO:equivalentTo"}
xref: OMIM:271200 {source="MONDO:equivalentTo"}
xref: UMLS:C1849102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376517"}
is_a: MONDO:0001516 {source="DC-OMIM:271200", source="MESH:C536881"} ! spinal muscular atrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type" xsd:anyURI {source="GARD:0009646"}

[Term]
id: MONDO:0010058
name: scapuloperoneal spinal muscular atrophy, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "spinal muscular atrophy, scapuloperoneal" EXACT [OMIM:271220]
xref: OMIM:271220 {source="MONDO:equivalentTo"}
is_a: MONDO:0001516 {source="DC-OMIM:271220"} ! spinal muscular atrophy
relationship: excluded_subClassOf MONDO:0008408 {source="https://orcid.org/0000-0001-5208-3432"} ! scapuloperoneal spinal muscular atrophy, autosomal dominant
relationship: has_characteristic HP:0000007 {source="OMIM:271220"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0010059
name: obsolete spinal muscular atrophy, type I, with congenital bone fractures
comment: OMIM merged these records.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014806

[Term]
id: MONDO:0010060
name: mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
def: "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." [Orphanet:1186]
subset: gard_rare {source="GARD:4062", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1186"}
subset: orphanet_rare {source="Orphanet:1186"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK" EXACT []
synonym: "infantile onset spinocerebellar ataxia" EXACT [OMIM:271245]
synonym: "IOSCA" EXACT ABBREVIATION [Orphanet:1186]
synonym: "mitochondrial DNA depletion syndrome 7" RELATED [DOID:0080126]
synonym: "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:271245]
synonym: "mitochondrial DNA depletion syndrome type 7" EXACT [DOID:0080126, MONDORULE:1]
synonym: "MTDPS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271245]
synonym: "OHAHA syndrome" EXACT [DOID:0050556]
synonym: "Ohaha syndrome" EXACT [OMIM:271245, Orphanet:1186]
synonym: "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis" RELATED [GARD:0004062]
synonym: "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis" RELATED [GARD:0004062]
synonym: "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis" RELATED [OMIM:271245]
synonym: "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome" EXACT [Orphanet:1186]
synonym: "SCA8 (formerly)" RELATED [GARD:0004062]
synonym: "spinocerebellar ataxia 8" RELATED [OMIM:271245]
synonym: "spinocerebellar ataxia 8 (formerly)" RELATED [GARD:0004062]
synonym: "spinocerebellar ataxia 8, formerly" RELATED [OMIM:271245]
synonym: "spinocerebellar ataxia infantile with sensory neuropathy" RELATED [GARD:0004062]
synonym: "spinocerebellar ataxia, infantile, with sensory neuropathy" RELATED [OMIM:271245]
synonym: "spinocerebellar ataxia, infantile-onset" RELATED [OMIM:271245]
synonym: "TWNK autosomal recessive degenerative and progressive cerebellar ataxia" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0050556 {source="MONDO:equivalentObsolete"}
xref: DOID:0080126 {source="MONDO:equivalentTo"}
xref: GARD:4062 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:1186", source="Orphanet:1186/attributed", source="Orphanet:1186/ntbt"}
xref: MEDGEN:338613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535523 {source="Orphanet:1186", source="MONDO:equivalentTo", source="Orphanet:1186/e"}
xref: OMIM:271245 {source="Orphanet:1186", source="MONDO:equivalentTo", source="DOID:0050556", source="Orphanet:1186/e"}
xref: Orphanet:1186 {source="MONDO:equivalentTo", source="OMIM:271245"}
xref: SCTID:724227000 {source="MONDO:equivalentTo"}
xref: UMLS:C1849096 {source="MEDGEN:338613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:271245", source="Orphanet:1186/inferred"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0020046 {source="Orphanet:1186"} ! autosomal recessive degenerative and progressive cerebellar ataxia
is_a: MONDO:0100512 {source="Orphanet:1186", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form
intersection_of: MONDO:0020046 ! autosomal recessive degenerative and progressive cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 ! TWNK
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 {source="MONDO:mim2gene_medgen"} ! TWNK

[Term]
id: MONDO:0010061
name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome
subset: gard_rare {source="GARD:9971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95433"}
subset: orphanet_rare {source="Orphanet:95433"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia - blindness - deafness" RELATED [GARD:0009971]
synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT [Orphanet:95433]
synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" RELATED [Orphanet:95433]
synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" EXACT [Orphanet:95433]
synonym: "SCABD" EXACT ABBREVIATION [Orphanet:95433]
synonym: "SCAR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271250, Orphanet:95433]
synonym: "spinocerebellar ataxia autosomal recessive 3" RELATED [GARD:0009971]
synonym: "spinocerebellar ataxia with blindness and deafness" RELATED [OMIM:271250]
synonym: "spinocerebellar ataxia, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:271250]
xref: DOID:0111612 {source="MONDO:equivalentTo"}
xref: GARD:9971 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:95433/attributed", source="Orphanet:95433/ntbt", source="Orphanet:95433"}
xref: MEDGEN:338611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537309 {source="MONDO:equivalentTo"}
xref: OMIM:271250 {source="Orphanet:95433", source="MONDO:equivalentTo", source="Orphanet:95433/e"}
xref: Orphanet:95433 {source="MONDO:equivalentTo", source="OMIM:271250"}
xref: UMLS:C1849094 {source="MEDGEN:338611", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020047 {source="Orphanet:95433"} ! autosomal recessive syndromic cerebellar ataxia

[Term]
id: MONDO:0010062
name: spinocerebellar ataxia-dysmorphism syndrome
def: "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." [Orphanet:1185]
subset: gard_rare {source="GARD:4958", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1185"}
subset: orphanet_rare {source="Orphanet:1185"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spinocerebellar ataxia with dysmorphism" RELATED [OMIM:271270]
xref: GARD:4958 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:1185/attributed", source="Orphanet:1185/ntbt", source="Orphanet:1185"}
xref: MEDGEN:336495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564802 {source="MONDO:equivalentTo"}
xref: OMIM:271270 {source="Orphanet:1185/e", source="MONDO:equivalentTo", source="Orphanet:1185"}
xref: Orphanet:1185 {source="MONDO:equivalentTo", source="OMIM:271270"}
xref: UMLS:C1849088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336495"}
is_a: MONDO:0100309 {source="Orphanet:1185"} ! hereditary ataxia

[Term]
id: MONDO:0010063
name: corneal-cerebellar syndrome
def: "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." [Orphanet:3177]
subset: gard_rare {source="GARD:1525", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3177"}
subset: ordo_malformation_syndrome {source="Orphanet:3177"}
subset: orphanet_rare {source="Orphanet:3177"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal cerebellar syndrome" RELATED [GARD:0001525]
synonym: "corneal dystrophy with spinocerebellar Degeneration" RELATED [OMIM:271310]
synonym: "corneal-cerebellar syndrome" EXACT [OMIM:271310]
synonym: "Der Kaloustian Jarudi Khoury syndrome" RELATED [GARD:0001525]
synonym: "Der Kaloustian-Jarudi-Khoury syndrome" EXACT [Orphanet:3177]
synonym: "spinocerebellar degeneration and corneal dystrophy" RELATED [OMIM:271310]
synonym: "spinocerebellar degeneration corneal dystrophy" RELATED [GARD:0001525]
synonym: "spinocerebellar degeneration-corneal dystrophy syndrome" EXACT [Orphanet:3177]
xref: GARD:1525 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:3177", source="Orphanet:3177/attributed", source="Orphanet:3177/ntbt"}
xref: MEDGEN:341379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535472 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"}
xref: OMIM:271310 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"}
xref: Orphanet:3177 {source="MONDO:equivalentTo", source="OMIM:271310"}
xref: SCTID:720750004 {source="MONDO:equivalentTo"}
xref: UMLS:C1849087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341379"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0004884 ! eye degenerative disorder
is_a: MONDO:0005071 {source="Orphanet:3177", source="https://github.com/monarch-initiative/mondo/issues/834", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0100309 {source="Orphanet:3177", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010064
name: spastic ataxia-corneal dystrophy syndrome
def: "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." [Orphanet:2572]
subset: gard_rare {source="GARD:3795", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2572"}
subset: orphanet_rare {source="Orphanet:2572"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bedouin spastic ataxia syndrome" EXACT [OMIM:271320, Orphanet:2572]
synonym: "Mousa Al din Al Nassar syndrome" RELATED [GARD:0003795]
synonym: "Mousa-Al Din-Al Nassar syndrome" EXACT [Orphanet:2572]
synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs" RELATED OMO:0003005 []
synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted disks" RELATED [GARD:0003795]
synonym: "spastic ataxia-ocular anomalies syndrome" EXACT [Orphanet:2572]
synonym: "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" RELATED [OMIM:271320]
xref: GARD:3795 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:2572", source="Orphanet:2572/attributed", source="Orphanet:2572/ntbt"}
xref: MEDGEN:336493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536989 {source="MONDO:equivalentTo"}
xref: OMIM:271320 {source="Orphanet:2572", source="MONDO:equivalentTo", source="Orphanet:2572/e"}
xref: Orphanet:2572 {source="MONDO:equivalentTo", source="OMIM:271320"}
xref: SCTID:715465001 {source="MONDO:equivalentTo"}
xref: UMLS:C1849085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336493"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0017847 {source="Orphanet:2572"} ! autosomal recessive spastic ataxia
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010065
name: spinocerebellar degeneration with slow eye movements
comment: Editor note: check this
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SDSEM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271322]
synonym: "spinocerebellar degeneration with slow eye movements" EXACT [MONDO:Lexical, OMIM:271322]
xref: OMIM:271322 {source="MONDO:equivalentTo"}
is_a: MONDO:0008458 ! spinocerebellar ataxia type 2

[Term]
id: MONDO:0010066
name: familial isolated congenital asplenia
def: "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings." [Orphanet:101351]
subset: gard_rare {source="GARD:16944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101351"}
subset: ordo_morphological_anomaly {source="Orphanet:101351"}
subset: orphanet_rare {source="Orphanet:101351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asplenia, familial" RELATED [OMIM:271400]
synonym: "asplenia, isolated congenital" RELATED [MONDO:Lexical, OMIM:271400]
synonym: "hyposplenia, isolated congenital" RELATED [OMIM:271400]
synonym: "ICAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271400]
synonym: "splenic hypoplasia" RELATED [OMIM:271400]
xref: GARD:16944 {source="MONDO:GARD"}
xref: ICD10CM:Q89.0 {source="Orphanet:101351/attributed", source="Orphanet:101351/ntbt", source="Orphanet:101351"}
xref: MEDGEN:151935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563028 {source="MONDO:equivalentTo"}
xref: NANDO:2200775 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:271400 {source="Orphanet:101351/e", source="MONDO:equivalentTo", source="Orphanet:101351"}
xref: Orphanet:101351 {source="MONDO:equivalentTo", source="OMIM:271400"}
xref: SCTID:726708009 {source="MONDO:equivalentTo"}
xref: UMLS:C0685889 {source="MEDGEN:151935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="PMID:12111187", source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6502 {source="MONDO:mim2gene_medgen"} ! RPSA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010067
name: splenoportal vascular anomalies
synonym: "splenoportal vascular anomalies" EXACT [OMIM:271500]
xref: MEDGEN:137945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562761 {source="MONDO:equivalentTo"}
xref: OMIM:271500 {source="MONDO:equivalentTo"}
xref: SCTID:234131004 {source="MONDO:equivalentTo"}
xref: UMLS:C0340826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137945"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010068
name: spondyloepimetaphyseal dysplasia, sponastrime type
def: "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation." [NCIT:P378]
subset: gard_rare {source="GARD:4970", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93357"}
subset: orphanet_rare {source="Orphanet:93357"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation" RELATED [GARD:0004970]
synonym: "short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation" RELATED [OMIM:271510]
synonym: "Sponastrime dysplasia" RELATED [OMIM:271510]
synonym: "sponastrime dysplasia" EXACT [DOID:5684]
synonym: "spondylar and nasal alterations with striated metaphyses" RELATED [OMIM:271510]
synonym: "spondylar and nasal alterations-striated metaphyses syndrome" EXACT [DOID:5684, NCIT:C3034]
synonym: "spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia" EXACT [Orphanet:93357]
synonym: "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia" EXACT [Orphanet:93357]
synonym: "spondyloepimetaphyseal dysplasia Sponastrime type" RELATED [GARD:0004970]
synonym: "spondyloepimetaphyseal dysplasia, Sponastrime type" EXACT [Orphanet:93357]
synonym: "spondyloepimetaphyseal dysplasia, sponastrime type" EXACT [OMIM:271510]
xref: DOID:5684 {source="MONDO:equivalentTo"}
xref: GARD:4970 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93357", source="Orphanet:93357/attributed", source="Orphanet:93357/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535786 {source="MONDO:equivalentTo"}
xref: NCIT:C129031 {source="MONDO:equivalentTo"}
xref: NCIT:C92206 {source="DOID:5684"}
xref: OMIM:271510 {source="DOID:5684", source="MONDO:equivalentTo", source="Orphanet:93357", source="Orphanet:93357/e"}
xref: Orphanet:93357 {source="MONDO:equivalentTo", source="OMIM:271510"}
xref: SCTID:389161008 {source="MONDO:equivalentTo"}
xref: UMLS:C1300260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266247"}
is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:271510", source="DOID:5684", source="Orphanet:93357", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type" xsd:anyURI {source="GARD:0004970"}

[Term]
id: MONDO:0010069
name: spondylocostal dysostosis-anal and genitourinary malformations syndrome
def: "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." [Orphanet:94095]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:94095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Casamassima-Morton-Nance syndrome" EXACT [OMIM:271520, Orphanet:94095]
synonym: "CMn syndrome" RELATED [OMIM:271520]
synonym: "spondylocostal dysostosis with anal atresia and urogenital anomalies" RELATED [OMIM:271520]
synonym: "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" RELATED [Orphanet:94095]
xref: ICD10CM:Q87.8 {source="Orphanet:94095/attributed", source="Orphanet:94095/ntbt", source="Orphanet:94095"}
xref: MEDGEN:341373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564799 {source="MONDO:equivalentTo"}
xref: OMIM:271520 {source="Orphanet:94095/e", source="MONDO:equivalentTo", source="Orphanet:94095"}
xref: Orphanet:94095 {source="MONDO:equivalentObsolete", source="OMIM:271520"}
xref: UMLS:C1849069 {source="MEDGEN:341373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0018234 {source="PMID:17056308", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:94095", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010070
name: brachyolmia type 1, Hobaek type
subset: gard_rare {source="GARD:995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCYM1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271530]
synonym: "brachyolmia type 1, Hobaek type" EXACT [MONDO:Lexical, OMIM:271530]
synonym: "brachyolmia, recessive type of Hobaek" RELATED [OMIM:271530]
synonym: "spondylodysplasia with Pure brachyolmia" RELATED [OMIM:271530]
xref: GARD:995 {source="MONDO:GARD"}
xref: MEDGEN:338605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537099 {source="MONDO:equivalentTo"}
xref: OMIM:271530 {source="MONDO:equivalentTo"}
xref: Orphanet:93301 {source="MONDO:equivalentObsolete", source="OMIM:271530"}
xref: UMLS:C1849055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338605"}
is_a: MONDO:0018662 {source="Orphanet:448242/btnt"} ! autosomal recessive brachyolmia

[Term]
id: MONDO:0010071
name: obsolete spondyloenchondrodysplasia
comment: OMIM merged this term.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1687" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011939

[Term]
id: MONDO:0010072
name: spondyloepiphyseal dysplasia tarda, autosomal recessive
def: "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:15237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive spondyloepiphyseal dysplasia tarda" EXACT [MONDO:design_pattern]
synonym: "spondyloepiphyseal dysplasia tarda, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:271600]
xref: DOID:0112293 {source="MONDO:equivalentTo"}
xref: GARD:15237 {source="MONDO:GARD"}
xref: MEDGEN:338604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564797 {source="MONDO:equivalentTo"}
xref: OMIM:271600 {source="MONDO:equivalentTo"}
xref: Orphanet:93284 {source="OMIM:271600"}
xref: UMLS:C1849054 {source="MEDGEN:338604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019667 {source="MONDO:Redundant", source="Orphanet:93284/btnt"} ! spondyloepiphyseal dysplasia tarda
intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:271600", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia with congenital joint dislocations

[Term]
id: MONDO:0010073
name: spondyloepiphyseal dysplasia tarda, Kohn type
def: "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." [Orphanet:163665]
subset: gard_rare {source="GARD:16995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163665"}
subset: orphanet_rare {source="Orphanet:163665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sedt with intellectual disability" RELATED [OMIM:271620]
synonym: "Sedt with mental retardation" RELATED DEPRECATED [OMIM:271620]
synonym: "spondyloepiphyseal dysplasia tarda with intellectual disability" RELATED [OMIM:271620]
synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" RELATED DEPRECATED [OMIM:271620]
xref: DOID:0112292 {source="MONDO:equivalentTo"}
xref: GARD:16995 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:163665", source="Orphanet:163665/attributed", source="Orphanet:163665/ntbt"}
xref: MEDGEN:338603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564796 {source="MONDO:equivalentTo"}
xref: OMIM:271620 {source="MONDO:equivalentTo", source="Orphanet:163665", source="Orphanet:163665/e"}
xref: Orphanet:163665 {source="MONDO:equivalentTo", source="OMIM:271620"}
xref: SCTID:719202006 {source="MONDO:equivalentTo"}
xref: UMLS:C1849053 {source="MONDO:equivalentTo", source="MEDGEN:338603", source="MONDO:MEDGEN"}
is_a: MONDO:0019667 {source="Orphanet:163665"} ! spondyloepiphyseal dysplasia tarda
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:163665", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010074
name: brachyolmia type 1, toledo type
subset: gard_rare {source="GARD:4977", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCYM1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271630]
synonym: "brachyolmia type 1, Toledo type" RELATED [MONDO:Lexical, OMIM:271630]
synonym: "PAPS-chondroitin sulfate sulfotransferase deficiency" RELATED [OMIM:271630]
synonym: "PAPS-chondroitin sulphate sulfotransferase deficiency" RELATED OMO:0003005 []
synonym: "Sed, chondroitin sulfate type" RELATED [OMIM:271630]
synonym: "Sed, chondroitin sulphate type" RELATED OMO:0003005 []
synonym: "spondyloepiphyseal dysplasia tarda, Toledo type" RELATED [OMIM:271630]
xref: GARD:4977 {source="MONDO:GARD"}
xref: MEDGEN:376504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535787 {source="MONDO:equivalentTo"}
xref: OMIM:271630 {source="MONDO:equivalentTo"}
xref: Orphanet:93303 {source="MONDO:equivalentObsolete", source="OMIM:271630"}
xref: UMLS:C1849048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376504"}
is_a: MONDO:0018662 {source="Orphanet:448242/btnt"} ! autosomal recessive brachyolmia

[Term]
id: MONDO:0010075
name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
def: "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:642099"}
subset: orphanet_rare {source="Orphanet:642099"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SEMDJL" BROAD ABBREVIATION [OMIM:271640]
synonym: "SEMDJL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271640]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6" EXACT [MONDO:design_pattern]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" EXACT [Orphanet:642099]
synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures" RELATED [OMIM:271640]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" EXACT [MONDO:Lexical, OMIM:271640]
xref: DOID:0112198 {source="MONDO:equivalentTo"}
xref: MEDGEN:865814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:271640 {source="MONDO:equivalentTo"}
xref: Orphanet:642099 {source="MONDO:equivalentTo"}
xref: Orphanet:93359 {source="OMIM:271640"}
xref: UMLS:C4017377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:865814"}
is_a: MONDO:0019675 {source="DC-OMIM:271640", source="MONDO:Redundant"} ! spondyloepimetaphyseal dysplasia with joint laxity
intersection_of: MONDO:0019675 ! spondyloepimetaphyseal dysplasia with joint laxity
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 ! B3GALT6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 {source="MONDO:mim2gene_medgen"} ! B3GALT6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010076
name: spondyloepimetaphyseal dysplasia, Irapa type
def: "A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." [https://orcid.org/0000-0001-5208-3432, Orphanet:93351]
subset: gard_rare {source="GARD:16819", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93351"}
subset: orphanet_rare {source="Orphanet:93351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMD, Irapa type" EXACT [Orphanet:93351]
synonym: "SEMDIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271650]
synonym: "spondyloepimetaphyseal dysplasia, Irapa type" EXACT [MONDO:Lexical, OMIM:271650]
xref: GARD:16819 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93351", source="Orphanet:93351/attributed", source="Orphanet:93351/ntbt"}
xref: MEDGEN:98476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562958 {source="MONDO:equivalentTo"}
xref: OMIM:271650 {source="Orphanet:93351", source="MONDO:equivalentTo", source="Orphanet:93351/e"}
xref: Orphanet:93351 {source="MONDO:equivalentTo", source="OMIM:271650"}
xref: SCTID:717330004 {source="MONDO:equivalentTo"}
xref: UMLS:C0432213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98476"}
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:271650", source="Orphanet:93351", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0010077
name: spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
def: "A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." [https://orcid.org/0000-0001-5208-3432, Orphanet:93358]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93358"}
subset: orphanet_rare {source="Orphanet:93358"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Smed short limb-abnormal calcification type" RELATED [GARD:0010616]
synonym: "SMED short limb-hand type" RELATED [GARD:0010616]
synonym: "SMED type 2" RELATED [GARD:0010616]
synonym: "Smed, short limb-abnormal calcification type" RELATED [OMIM:271665]
synonym: "Smed, short limb-hand type" RELATED [OMIM:271665]
synonym: "Smed, type 2" RELATED [OMIM:271665]
synonym: "Smed-SL" RELATED [OMIM:271665]
synonym: "Smed-SL/Ac" RELATED [OMIM:271665]
synonym: "spondyloepimetaphyseal dysplasia - short limb - abnormal calcification" RELATED [GARD:0010616]
synonym: "spondylometaepiphyseal dysplasia short limb-abnormal calcification type" RELATED [GARD:0010616]
synonym: "spondylometaepiphyseal dysplasia short limb-hand type" RELATED [GARD:0010616]
synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" RELATED [OMIM:271665]
synonym: "spondylometaepiphyseal dysplasia, short limb-hand type" RELATED [OMIM:271665]
xref: DOID:0112196 {source="MONDO:equivalentTo"}
xref: GARD:10616 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93358", source="Orphanet:93358/attributed", source="Orphanet:93358/ntbt"}
xref: MEDGEN:338595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564794 {source="MONDO:equivalentTo"}
xref: OMIM:271665 {source="MONDO:equivalentTo", source="Orphanet:93358", source="Orphanet:93358/e"}
xref: Orphanet:93358 {source="OMIM:271665", source="MONDO:equivalentTo"}
xref: UMLS:C1849011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338595"}
is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:93358", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2731 {source="MONDO:mim2gene_medgen"} ! DDR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0010078
name: spondyloperipheral dysplasia
def: "A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe." [https://orcid.org/0000-0001-8612-1062]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4994", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1856"}
subset: orphanet_rare {source="Orphanet:1856"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spondyloperipheral dysplasia" EXACT [OMIM:271700]
synonym: "spondyloperipheral dysplasia with short ulna" RELATED [OMIM:271700]
synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT [https://orcid.org/0000-0001-8612-1062]
xref: DOID:0112195 {source="MONDO:equivalentTo"}
xref: GARD:4994 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:1856/attributed", source="Orphanet:1856/ntbt", source="Orphanet:1856"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535799 {source="Orphanet:1856/e", source="MONDO:equivalentTo", source="Orphanet:1856"}
xref: NANDO:2201351 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C135088 {source="MONDO:equivalentTo"}
xref: OMIM:271700 {source="Orphanet:1856/e", source="MONDO:equivalentTo", source="Orphanet:1856"}
xref: Orphanet:1856 {source="OMIM:271700", source="MONDO:equivalentTo"}
xref: SCTID:702339001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163223"}
is_a: MONDO:0016761 {source="Orphanet:1856"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:1856", source="PMID:31633310"} ! type 2 collagenopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5282" xsd:anyURI

[Term]
id: MONDO:0010079
name: Canavan disease
def: "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." [Orphanet:141]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5984", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:886"}
subset: ordo_disorder {source="Orphanet:141"}
subset: orphanet_rare {source="Orphanet:141"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACY2 deficiency" EXACT [Orphanet:141]
synonym: "Acy2 deficiency" RELATED [OMIM:271900]
synonym: "aminoacylase 2 deficiency" EXACT [Orphanet:141]
synonym: "Asp deficiency" RELATED [OMIM:271900]
synonym: "Aspa deficiency" RELATED [OMIM:271900]
synonym: "aspartoacylase deficiency" EXACT [OMIM:271900, Orphanet:141]
synonym: "Canavan disease" EXACT CLINGEN_LABEL [OMIM:271900]
synonym: "Canavan-VAN Bogaert-Bertrand disease" EXACT [DOID:3613]
synonym: "Canavan-Van Bogaert-Bertrand disease" RELATED [OMIM:271900]
synonym: "spongy Degeneration of central nervous system" RELATED [OMIM:271900]
synonym: "spongy degeneration of central nervous system" EXACT [DOID:3613]
synonym: "spongy degeneration of the brain" EXACT [Orphanet:141]
synonym: "spongy degeneration of the central nervous system" RELATED [GARD:0005984]
synonym: "Von Bogaert-Bertrand disease" RELATED [GARD:0005984]
xref: DOID:3613 {source="MONDO:equivalentTo"}
xref: GARD:5984 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:141/ntbt", source="Orphanet:141", source="Orphanet:141/index"}
xref: MedDRA:10067608 {source="Orphanet:141/e", source="Orphanet:141"}
xref: MEDGEN:61565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017825 {source="Orphanet:141/e", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"}
xref: NANDO:1200948 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200834 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84611 {source="MONDO:equivalentTo", source="DOID:3613"}
xref: NORD:886 {source="MONDO:NORD"}
xref: OMIM:271900 {source="Orphanet:141/e", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"}
xref: Orphanet:141 {source="OMIM:271900", source="MONDO:equivalentTo"}
xref: SCTID:80544005 {source="MONDO:equivalentTo", source="DOID:3613"}
xref: UMLS:C0206307 {source="MEDGEN:61565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017686 {source="Orphanet:141"} ! inborn aminoacylase deficiency
is_a: MONDO:0019046 {source="DOID:3613", source="NCIT:C84611", source="Orphanet:141"} ! leukodystrophy
is_a: MONDO:0024237 {source="MESH:D017825", source="MESH:D017825/inferred"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0016399 {source="Orphanet:141", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete amino acid or protein metabolism disease with epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/756 {source="MONDO:mim2gene_medgen"} ! ASPA
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5984/canavan-disease" xsd:anyURI {source="GARD:0005984"}

[Term]
id: MONDO:0010080
name: familial infantile bilateral striatal necrosis
def: "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." [Orphanet:225154]
subset: gard_rare {source="GARD:17141", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:225154"}
subset: orphanet_rare {source="Orphanet:225154"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral striatal Necrosis, infantile" RELATED [OMIM:271930]
synonym: "familial bilateral striatal necrosis" RELATED [GARD:0010665]
synonym: "familial IBSN" EXACT [Orphanet:225154]
synonym: "familial infantile striatonigral degeneration" EXACT [Orphanet:225154]
synonym: "familial infantile striatonigral necrosis" EXACT [Orphanet:225154]
synonym: "FBSN" RELATED ABBREVIATION [GARD:0010665]
synonym: "hereditary infantile bilateral striatal necrosis" EXACT [MONDO:patterns/hereditary]
synonym: "infantile bilateral striatal necrosis" RELATED [OMIM:271930]
synonym: "SNDI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271930]
synonym: "striatal degeneration, familial" RELATED [OMIM:271930]
synonym: "striatonigral degeneration, infantile" RELATED [MONDO:Lexical, OMIM:271930]
xref: GARD:17141 {source="MONDO:GARD"}
xref: ICD10CM:G23.2 {source="Orphanet:225154/attributed", source="Orphanet:225154/ntbt", source="Orphanet:225154"}
xref: MEDGEN:1672478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:271930 {source="Orphanet:225154/e", source="MONDO:equivalentTo", source="Orphanet:225154"}
xref: Orphanet:1576 {source="OMIM:271930"}
xref: Orphanet:225154 {source="OMIM:271930", source="MONDO:equivalentTo"}
xref: UMLS:C4087174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672478"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003122 {source="OMIM:271930"} ! striatonigral degeneration
is_a: MONDO:0015518 {source="MONDO:Redundant", source="Orphanet:225154"} ! infantile bilateral striatal necrosis
intersection_of: MONDO:0015518 ! infantile bilateral striatal necrosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8066 {source="MONDO:mim2gene_medgen"} ! NUP62
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis" xsd:anyURI {source="GARD:0010665"}

[Term]
id: MONDO:0010081
name: subaortic stenosis, membranous
subset: gard_rare {source="GARD:18242", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "subaortic stenosis, membranous" EXACT [OMIM:271950]
xref: GARD:18242 {source="MONDO:GARD"}
xref: MEDGEN:336468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564793 {source="MONDO:equivalentTo"}
xref: OMIM:271950 {source="MONDO:equivalentTo"}
xref: Orphanet:3092 {source="OMIM:271950"}
xref: Orphanet:99051 {source="OMIM:271950"}
xref: UMLS:C1848979 {source="MEDGEN:336468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! hereditary disease
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005561 {source="https://orcid.org/0000-0002-3458-4839"} ! aortic disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0010082
name: subaortic stenosis-short stature syndrome
subset: gard_rare {source="GARD:405", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3191"}
subset: ordo_malformation_syndrome {source="Orphanet:3191"}
subset: orphanet_rare {source="Orphanet:3191"}
subset: rare
synonym: "Onat syndrome" EXACT [OMIM:271960, Orphanet:3191]
synonym: "subaortic stenosis short stature syndrome" RELATED [GARD:0000405]
synonym: "subaortic stenosis--short stature syndrome" RELATED [OMIM:271960]
xref: GARD:405 {source="MONDO:GARD"}
xref: MEDGEN:167085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537749 {source="MONDO:equivalentTo"}
xref: OMIM:271960 {source="MONDO:equivalentTo", source="Orphanet:3191", source="Orphanet:3191/e"}
xref: Orphanet:3191 {source="MONDO:equivalentTo", source="OMIM:271960"}
xref: UMLS:C0795947 {source="MEDGEN:167085", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome" xsd:anyURI {source="GARD:0000405"}

[Term]
id: MONDO:0010083
name: succinic semialdehyde dehydrogenase deficiency
def: "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." [Orphanet:22]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7695", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1904", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:22"}
subset: orphanet_rare {source="Orphanet:22"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "4-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22]
synonym: "GABA metabolic defect" RELATED [OMIM:271980]
synonym: "gamma-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22]
synonym: "gamma-hydroxybutyricaciduria" RELATED [GARD:0007695]
synonym: "SSADH" EXACT ABBREVIATION [DOID:0060175]
synonym: "SSADH deficiency" EXACT [Orphanet:22]
synonym: "Ssadh deficiency" RELATED [OMIM:271980]
synonym: "SSADHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271980]
synonym: "succinic semialdehyde dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:271980]
xref: DOID:0060175 {source="MONDO:equivalentTo"}
xref: GARD:7695 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:22/attributed", source="Orphanet:22/ntbt", source="Orphanet:22"}
xref: MEDGEN:124340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535803 {source="MONDO:equivalentTo"}
xref: NANDO:2200599 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1904 {source="MONDO:NORD"}
xref: OMIM:271980 {source="Orphanet:22", source="MONDO:equivalentTo", source="Orphanet:22/e"}
xref: Orphanet:22 {source="MONDO:equivalentTo", source="OMIM:271980"}
xref: SCTID:49748000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268631 {source="MEDGEN:124340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000698 {source="DOID:0060175"} ! gamma-amino butyric acid metabolism disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/408 {source="MONDO:mim2gene_medgen"} ! ALDH5A1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0007695"}

[Term]
id: MONDO:0010084
name: sucrosuria, hiatus hernia and intellectual disability
synonym: "sucrosuria, hiatus hernia and intellectual disability" EXACT [OMIM:272000]
synonym: "sucrosuria, hiatus hernia and mental retardation" EXACT DEPRECATED [OMIM:272000]
xref: MEDGEN:338583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564792 {source="MONDO:equivalentTo"}
xref: OMIM:272000 {source="MONDO:equivalentTo"}
xref: UMLS:C1848963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338583"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010085
name: Schilder disease
def: "Schilder's disease is a progressive demyelinating disorder of the central nervous system." [Orphanet:59298]
subset: gard_rare {source="GARD:16661", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:59298"}
subset: orphanet_rare {source="Orphanet:59298"}
subset: rare
synonym: "Myelinoclastic diffuse sclerosis" EXACT [Orphanet:59298]
synonym: "Schilder disease" EXACT [OMIM:272100]
synonym: "Schilder's disease" EXACT [Orphanet:59298]
synonym: "SUDANOPHILIC cerebral sclerosis" RELATED [OMIM:272100]
xref: GARD:16661 {source="MONDO:GARD"}
xref: ICD10CM:G37.0 {source="Orphanet:59298", source="Orphanet:59298/e"}
xref: ICD9:341.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:272100 {source="MONDO:equivalentTo", source="Orphanet:59298", source="Orphanet:59298/e"}
xref: Orphanet:59298 {source="MONDO:equivalentTo", source="OMIM:272100"}
xref: SCTID:49692006 {source="MONDO:equivalentTo"}
xref: UMLS:C0007795 {source="MEDGEN:3324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002562 {source="https://orcid.org/0000-0002-4142-7153"} ! demyelinating disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0010086
name: obsolete sudden infant death syndrome
def: "OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." [https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome]
comment: This is not really a disease, and it is really an outcome of a variety of potential reasons, some which could be genetic, or environmental or maybe entirely unknown.
synonym: "cot death" EXACT [DOID:9007]
synonym: "cot death (context-dependent category)" EXACT [DOID:9007]
synonym: "crib death" EXACT [NCIT:C85173]
synonym: "Crib death (context-dependent category)" EXACT [DOID:9007]
synonym: "SIDS" EXACT ABBREVIATION [DOID:9007]
synonym: "Sids" RELATED [OMIM:272120]
synonym: "sudden death of nonspecific cause in infancy" EXACT [DOID:9007]
synonym: "sudden infant death syndrome" EXACT [OMIM:272120]
synonym: "sudden infant death syndrome (context-dependent category)" EXACT [DOID:9007]
synonym: "sudden infant death syndrome (finding)" EXACT [DOID:9007]
synonym: "sudden infant death syndrome NOS (context-dependent category)" EXACT [DOID:9007]
synonym: "sudden infant death syndrome, susceptibility to" EXACT [OMIM:272120, OMIM:genemap2]
xref: DOID:9007 {source="MONDO:obsoleteEquivalent", source="EFO:0005303"}
xref: ICD10WHO:R95 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:798.0 {source="DOID:9007", source="EFO:0005303"}
xref: MedDRA:10042439 {source="EFO:0005303"}
xref: MESH:D013398 {source="DOID:9007", source="MONDO:obsoleteEquivalent"}
xref: NCIT:C85173 {source="DOID:9007", source="MONDO:obsoleteEquivalent", source="EFO:0005303"}
xref: OMIM:272120 {source="DOID:9007", source="MONDO:obsoleteEquivalent", source="EFO:0005303"}
xref: SCTID:158718001 {source="DOID:9007"}
xref: SCTID:207534005 {source="DOID:9007"}
xref: SCTID:207535006 {source="DOID:9007"}
xref: SCTID:207536007 {source="DOID:9007"}
xref: SCTID:207538008 {source="DOID:9007"}
xref: SCTID:207671002 {source="DOID:9007"}
xref: SCTID:51178009 {source="DOID:9007", source="MONDO:obsoleteEquivalent", source="EFO:0005303"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2759" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome" xsd:anyURI {source="GARD:0007711"}
is_obsolete: true

[Term]
id: MONDO:0010087
name: Sugarman brachydactyly
def: "Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982." [Orphanet:498602]
subset: gard_rare {source="GARD:5058", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:498602"}
subset: ordo_morphological_anomaly
subset: orphanet_rare {source="Orphanet:498602"}
subset: rare
synonym: "brachydactyly of the hands and feet with duplication of the first toes" RELATED [GARD:0005058]
synonym: "brachydactyly with Major proximal phalangeal shortening" RELATED [OMIM:272150]
synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [DOID:0110979]
synonym: "Sugarman brachydactyly" EXACT [OMIM:272150]
synonym: "Sugarman-Hager-Kulik syndrome" EXACT [Orphanet:498602]
xref: DOID:0110979 {source="MONDO:equivalentTo"}
xref: GARD:5058 {source="MONDO:GARD"}
xref: MEDGEN:1777636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:272150 {source="MONDO:equivalentTo", source="Orphanet:498602", source="DOID:0110979"}
xref: Orphanet:498602 {source="MONDO:equivalentTo"}
xref: UMLS:C5399870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1777636"}
is_a: MONDO:0019054 {source="Orphanet:498602/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! congenital limb malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly" xsd:anyURI {source="GARD:0005058"}

[Term]
id: MONDO:0010088
name: mucosulfatidosis
def: "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." [Orphanet:585]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5061", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1471", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:585"}
subset: orphanet_rare {source="Orphanet:585"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile sulfatidosis" RELATED [GARD:0005061]
synonym: "juvenile sulfatidosis, Austin type" EXACT [Orphanet:585]
synonym: "MSD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:272200, Orphanet:585]
synonym: "mucosulfatidosis" EXACT CLINGEN_LABEL [OMIM:272200, Orphanet:585]
synonym: "Multiple Sulfatase Deficiency" EXACT [NORD:1471]
synonym: "multiple sulfatase deficiency" RELATED [MONDO:Lexical, OMIM:272200]
synonym: "multiple sulfatase deficiency disease" EXACT [DOID:0050441]
synonym: "sulfatidosis juvenile, Austin type" RELATED [GARD:0005061]
synonym: "sulfatidosis, juvenile, Austin type" EXACT [DOID:0050441, OMIM:272200]
xref: DOID:0050441 {source="MONDO:equivalentTo"}
xref: GARD:5061 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:585/attributed", source="Orphanet:585/ntbt", source="Orphanet:585"}
xref: MEDGEN:75664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052517 {source="DOID:0050441", source="MONDO:equivalentTo"}
xref: NANDO:1200083 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200624 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200566 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84908 {source="DOID:0050441", source="MONDO:equivalentTo"}
xref: NORD:1471 {source="MONDO:NORD"}
xref: OMIM:272200 {source="DOID:0050441", source="Orphanet:585/e", source="MONDO:equivalentTo", source="Orphanet:585"}
xref: Orphanet:585 {source="MONDO:equivalentTo", source="OMIM:272200"}
xref: SCTID:254076009 {source="DOID:0050441"}
xref: SCTID:54898003 {source="DOID:0050441", source="MONDO:equivalentTo"}
xref: UMLS:C0268263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75664"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002561 {source="DOID:0050441/inferred", source="MESH:D052517/inferred", source="MONDO:Redundant", source="NCIT:C84908", source="Orphanet:585/inferred"} ! lysosomal storage disease
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0015327 {source="Orphanet:585"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019255 {source="DOID:0050441", source="MESH:D052517/inferred", source="MONDO:0018299-obsoleted", source="Orphanet:585"} ! sphingolipidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20376 {source="MONDO:mim2gene_medgen"} ! SUMF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0010089
name: isolated sulfite oxidase deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5062", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99731"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ISOD" EXACT ABBREVIATION [OMIM:272300, Orphanet:99731]
synonym: "isolated sulfite oxidase deficiency" EXACT CLINGEN_LABEL []
synonym: "sulfite oxidase deficiency" EXACT [OMIM:272300]
synonym: "sulfite oxidase deficiency, isolated" EXACT [OMIM:272300]
synonym: "Sulfocysteinuria" EXACT [Orphanet:99731]
synonym: "sulfocysteinuria" EXACT [OMIM:272300]
xref: DOID:0111270 {source="MONDO:equivalentTo"}
xref: GARD:5062 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:99731", source="Orphanet:99731/attributed", source="Orphanet:99731/ntbt"}
xref: MEDGEN:78695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538141 {source="MONDO:equivalentTo"}
xref: NANDO:2200583 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:272300 {source="Orphanet:99731", source="MONDO:equivalentTo", source="Orphanet:99731/e"}
xref: Orphanet:833 {source="OMIM:272300"}
xref: Orphanet:99731 {source="MONDO:equivalentTo", source="OMIM:272300"}
xref: SCTID:367368009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78695"}
is_a: MONDO:0019358 {source="Orphanet:99731"} ! encephalopathy due to sulfite oxidase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11460 {source="MONDO:mim2gene_medgen"} ! SUOX

[Term]
id: MONDO:0010090
name: Summitt syndrome
def: "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome." [Orphanet:3210]
subset: gard_rare {source="GARD:127", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1746"}
subset: ordo_malformation_syndrome {source="Orphanet:3210"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "recessive acrocephalosyndactyly with normal intelligence" RELATED [GARD:0000127]
synonym: "Summitt syndrome" EXACT [OMIM:272350]
synonym: "Summitt's acrocephalosyndactyly" RELATED [GARD:0000127]
xref: GARD:127 {source="MONDO:GARD"}
xref: ICD10CM:Q82.0 {source="Orphanet:3210", source="MONDO:relatedTo", source="Orphanet:3210/attributed", source="Orphanet:3210/ntbt"}
xref: MEDGEN:369198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538142 {source="Orphanet:3210", source="MONDO:equivalentTo", source="Orphanet:3210/e"}
xref: NORD:1746 {source="MONDO:NORD"}
xref: OMIM:272350 {source="Orphanet:3210", source="MONDO:equivalentTo", source="Orphanet:3210/e"}
xref: Orphanet:3210 {source="MONDO:equivalentTo", source="OMIM:272350"}
xref: SCTID:733606001 {source="MONDO:equivalentTo"}
xref: UMLS:C1802405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369198"}
is_a: MONDO:0015338 {source="Orphanet:3210", source="Orphanet:3210/inferred"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:1642806", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome" xsd:anyURI {source="GARD:0000127"}

[Term]
id: MONDO:0010091
name: Cold-induced sweating syndrome 1
def: "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly." [Orphanet:1545]
subset: gard_rare {source="GARD:1611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1545"}
subset: ordo_malformation_syndrome {source="Orphanet:1545"}
subset: orphanet_rare {source="Orphanet:1545"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CISS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272430]
synonym: "cold-induced sweating syndrome 1" RELATED [MONDO:Lexical, OMIM:272430]
synonym: "cold-induced sweating syndrome type 1" EXACT [MONDORULE:1, OMIM:272430]
synonym: "Crisponi syndrome" EXACT [OMIM:272430]
synonym: "CRISPONI/cold-induced sweating syndrome 1" RELATED [OMIM:272430]
synonym: "Crisponi/cold-induced sweating syndrome 1" RELATED [OMIM:272430]
synonym: "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death" RELATED [OMIM:272430]
synonym: "Sohar-Crisponi syndrome" RELATED [OMIM:272430]
xref: DOID:0080329 {source="MONDO:equivalentTo"}
xref: GARD:1611 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="Orphanet:1545", source="Orphanet:1545/attributed", source="Orphanet:1545/ntbt"}
xref: MEDGEN:338577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536214 {source="MONDO:equivalentTo", source="Orphanet:1545", source="Orphanet:1545/e"}
xref: OMIM:272430 {source="MONDO:equivalentTo"}
xref: OMIM:601378 {source="MONDO:equivalentObsolete", source="Orphanet:1545", source="Orphanet:1545/e"}
xref: Orphanet:1545 {source="MONDO:equivalentTo"}
xref: Orphanet:157820 {source="OMIM:272430"}
xref: SCTID:725097006 {source="MONDO:equivalentTo"}
xref: UMLS:C1848947 {source="MEDGEN:338577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015526 {source="DC-OMIM:272430", source="OMIM:272430"} ! cold-induced sweating syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2364 {source="MONDO:mim2gene_medgen"} ! CRLF1

[Term]
id: MONDO:0010092
name: Filippi syndrome
def: "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." [Orphanet:3255]
subset: gard_rare {source="GARD:62", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1149"}
subset: ordo_disorder {source="Orphanet:3255"}
subset: ordo_malformation_syndrome {source="Orphanet:3255"}
subset: orphanet_rare {source="Orphanet:3255"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FILIPPI syndrome" RELATED [OMIM:272440]
synonym: "Filippi syndrome" EXACT [MONDO:Lexical, OMIM:272440]
synonym: "FLPIS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272440]
synonym: "Scott craniodigital syndrome with intellectual disability" RELATED [OMIM:272440]
synonym: "Scott craniodigital syndrome with mental retardation" RELATED DEPRECATED [OMIM:272440]
synonym: "syndactyly type I with microcephaly and intellectual disability" RELATED [GARD:0000062]
synonym: "syndactyly type I with microcephaly and mental retardation" RELATED DEPRECATED [GARD:0000062]
synonym: "syndactyly, type I, with microcephaly and intellectual disability" RELATED [OMIM:272440]
synonym: "syndactyly, type I, with microcephaly and mental retardation" RELATED DEPRECATED [OMIM:272440]
synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT [Orphanet:3255]
synonym: "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly" RELATED [GARD:0000062]
synonym: "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly" RELATED DEPRECATED [GARD:0000062]
xref: DOID:0112194 {source="MONDO:equivalentTo"}
xref: GARD:62 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3255", source="Orphanet:3255/attributed", source="Orphanet:3255/ntbt"}
xref: MEDGEN:163197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538152 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e"}
xref: NORD:1149 {source="MONDO:NORD"}
xref: OMIM:272440 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e", source="GARD:0000062"}
xref: Orphanet:3255 {source="MONDO:equivalentTo", source="OMIM:272440", source="GARD:0000062"}
xref: SCTID:720954000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795940 {source="MONDO:equivalentTo", source="MEDGEN:163197", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:3255"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3255", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26877 {source="MONDO:mim2gene_medgen"} ! CKAP2L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010093
name: syndesmodysplasic dwarfism
synonym: "syndesmodysplasic dwarfism" EXACT [OMIM:272450]
xref: MEDGEN:419461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537869 {source="MONDO:equivalentTo"}
xref: OMIM:272450 {source="MONDO:equivalentTo"}
xref: Orphanet:2654 {source="MONDO:equivalentObsolete", source="OMIM:272450"}
xref: UMLS:C2931647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419461"}
is_a: MONDO:0003847 {source="MESH:C537869/inferred"} ! hereditary disease

[Term]
id: MONDO:0010094
name: spondylocarpotarsal synostosis syndrome
def: "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." [Orphanet:3275]
subset: gard_rare {source="GARD:4974", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3275"}
subset: ordo_malformation_syndrome {source="Orphanet:3275"}
subset: orphanet_rare {source="Orphanet:3275"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT [DOID:0090116]
synonym: "congenital synspondylism" EXACT [DOID:0090116]
synonym: "scoliosis, congenital with unilateral unsegmented bar" RELATED [GARD:0004974]
synonym: "scoliosis, congenital, with unilateral unsegmented Bar" RELATED [OMIM:272460]
synonym: "SCT" EXACT ABBREVIATION [DOID:0090116, MONDO:Lexical, OMIM:272460]
synonym: "spondylocarpotarsal syndrome" EXACT [DOID:0090116, OMIM:272460]
synonym: "spondylocarpotarsal synostosis" EXACT [DOID:0090116]
synonym: "spondylocarpotarsal synostosis syndrome" EXACT [MONDO:Lexical, OMIM:272460]
synonym: "Synspondylism" EXACT [Orphanet:3275]
synonym: "Synspondylism congenital" RELATED [GARD:0004974]
synonym: "Synspondylism, congenital" RELATED [OMIM:272460]
synonym: "vertebral fusion with carpal coalition" EXACT [DOID:0090116, OMIM:272460]
xref: DOID:0090116 {source="MONDO:equivalentTo"}
xref: GARD:4974 {source="MONDO:GARD"}
xref: ICD10CM:Q76.4 {source="Orphanet:3275/attributed", source="Orphanet:3275/ntbt", source="DOID:0090116", source="Orphanet:3275"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:341339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535780 {source="MONDO:equivalentTo"}
xref: OMIM:272460 {source="Orphanet:3275/e", source="MONDO:equivalentTo", source="DOID:0090116", source="Orphanet:3275"}
xref: Orphanet:3275 {source="MONDO:equivalentTo", source="OMIM:272460", source="DOID:0090116"}
xref: SCTID:702351004 {source="MONDO:equivalentTo"}
xref: UMLS:C1848934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341339"}
is_a: MONDO:0005497 {source="DOID:0090116", source="MONDO:Redundant", source="MONDO:indirect"} ! bone development disease
is_a: MONDO:0019690 {source="Orphanet:3275", source="PMID:31633310"} ! filamin-related bone disorder
is_a: MONDO:0019694 {source="Orphanet:3275"} ! spondylodysplastic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3755 {source="MONDO:mim2gene_medgen"} ! FLNB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome" xsd:anyURI {source="GARD:0004974"}

[Term]
id: MONDO:0010095
name: ataxia-tapetoretinal degeneration syndrome
subset: gard_rare {source="GARD:16559", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1178"}
subset: orphanet_rare {source="Orphanet:1178"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tapetoretinal degeneration with ataxia" RELATED [OMIM:272600]
xref: GARD:16559 {source="MONDO:GARD"}
xref: MEDGEN:336461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564788 {source="MONDO:equivalentTo"}
xref: OMIM:272600 {source="Orphanet:1178", source="MONDO:equivalentTo", source="Orphanet:1178/e"}
xref: Orphanet:1178 {source="OMIM:272600", source="MONDO:equivalentTo"}
xref: UMLS:C1848932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336461"}
is_a: MONDO:0100309 {source="Orphanet:1178"} ! hereditary ataxia

[Term]
id: MONDO:0010096
name: tardive dyskinesia
synonym: "tardive dyskinesia" EXACT [MONDO:ambiguous, OMIM:272620]
synonym: "tardive dyskinesia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0040141 {source="MONDO:otherHierarchy"}
xref: MEDGEN:151939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000071057 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: OMIM:272620 {source="MONDO:equivalentTo"}
xref: SCTID:102449007 {source="MONDO:equivalentTo"}
xref: UMLS:C0686347 {source="MEDGEN:151939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000589 "tardive dyskinesia (disease)" xsd:string

[Term]
id: MONDO:0010097
name: Tatsumi factor deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Tatsumi factor deficiency" EXACT [OMIM:272650]
xref: MEDGEN:336460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564787 {source="MONDO:equivalentTo"}
xref: OMIM:272650 {source="MONDO:equivalentTo"}
xref: UMLS:C1848931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336460"}
is_a: MONDO:0002242 {source="MESH:C564787"} ! coagulation protein disease
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease

[Term]
id: MONDO:0010098
name: taurodontism
def: "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome." [Orphanet:3289]
subset: ordo_morphological_anomaly {source="Orphanet:3289"}
subset: otar {source="MONDO:OTAR"}
synonym: "Bull teeth" RELATED [GARD:0005119]
synonym: "large pulp chambers in the molars" RELATED [GARD:0005119]
synonym: "taurodontism" EXACT [MONDO:ambiguous, OMIM:272700]
synonym: "taurodontism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0000679 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K00.2 {source="Orphanet:3289/ntbt", source="Orphanet:3289", source="Orphanet:3289/inclusion"}
xref: MEDGEN:75596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536946 {source="Orphanet:3289", source="MONDO:equivalentTo", source="Orphanet:3289/e"}
xref: OMIM:272700 {source="Orphanet:3289", source="MONDO:equivalentTo", source="Orphanet:3289/e"}
xref: Orphanet:3289 {source="OMIM:272700", source="MONDO:equivalentObsolete"}
xref: SCTID:51744007 {source="MONDO:equivalentTo"}
xref: UMLS:C0266039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75596"}
is_a: MONDO:0003847 {source="Orphanet:3289/inferred"} ! hereditary disease
is_a: MONDO:0006999 {source="https://orcid.org/0000-0001-5208-3432"} ! tooth disorder
property_value: IAO:0000589 "taurodontism (disease)" xsd:string

[Term]
id: MONDO:0010099
name: Tay-Sachs disease AB variant
def: "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency." [Orphanet:309246]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17406", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:309246"}
subset: orphanet_rare {source="Orphanet:309246"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ab variant GM2-gangliosidosis" RELATED [OMIM:272750]
synonym: "GM2 activator deficiency" RELATED [OMIM:272750]
synonym: "GM2 gangliosidosis, AB variant" RELATED [Orphanet:309246]
synonym: "GM2-gangliosidosis, AB variant" RELATED [OMIM:272750]
synonym: "hexosaminidase activator deficiency" EXACT [OMIM:272750, Orphanet:309246]
synonym: "Tay-Sachs disease, AB variant" RELATED [OMIM:272750]
synonym: "Tay-Sachs disease, variant AB" EXACT [DOID:4795]
xref: DOID:4795 {source="MONDO:equivalentTo"}
xref: GARD:17406 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309246/attributed", source="Orphanet:309246/ntbt", source="Orphanet:309246"}
xref: MEDGEN:78657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049290 {source="DOID:4795", source="MONDO:equivalentTo"}
xref: NANDO:1200073 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201201 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C133084 {source="MONDO:equivalentTo"}
xref: OMIM:272750 {source="Orphanet:309246/e", source="DOID:4795", source="MONDO:equivalentTo", source="Orphanet:309246"}
xref: Orphanet:309246 {source="MONDO:equivalentTo", source="OMIM:272750"}
xref: SCTID:71253000 {source="DOID:4795", source="MONDO:equivalentTo"}
xref: UMLS:C0268275 {source="MEDGEN:78657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="DOID:4795/inferred", source="MESH:D049290/inferred", source="MONDO:Redundant", source="NCIT:C133084", source="Orphanet:309246/inferred"} ! lysosomal storage disease
is_a: MONDO:0017720 {source="DOID:4795", source="MESH:D049290", source="Orphanet:309246"} ! GM2 gangliosidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4367 {source="MONDO:mim2gene_medgen"} ! GM2A

[Term]
id: MONDO:0010100
name: Tay-Sachs disease
def: "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency." [Orphanet:845]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1761"}
subset: ordo_disorder {source="Orphanet:845"}
subset: orphanet_rare {source="Orphanet:845"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B variant GM2 gangliosidosis" RELATED [GARD:0007737]
synonym: "B variant GM2-gangliosidosis" RELATED [OMIM:272800]
synonym: "disease, Tay-Sachs" EXACT [DOID:3320]
synonym: "gangliosidosis GM2, type 1" RELATED [GARD:0007737]
synonym: "GM2 gangliosidosis, B, B1 variant" EXACT [Orphanet:845]
synonym: "GM2 gangliosidosis, type 1" RELATED [GARD:0007737]
synonym: "GM2-gangliosidosis, adult chronic type" RELATED [OMIM:272800]
synonym: "GM2-gangliosidosis, several forms" EXACT [OMIM:272800, OMIM:genemap2]
synonym: "GM2-gangliosidosis, type 1" RELATED [OMIM:272800]
synonym: "GM2-gangliosidosis, variant B1" RELATED [OMIM:272800]
synonym: "Hex A pseudodeficiency" EXACT [OMIM:272800, OMIM:genemap2]
synonym: "hexa deficiency" RELATED [OMIM:272800]
synonym: "hexosaminidase A deficiency" EXACT [DOID:3320, Orphanet:845]
synonym: "hexosaminidase a deficiency" RELATED [OMIM:272800]
synonym: "hexosaminidase a deficiency, adult type" RELATED [OMIM:272800]
synonym: "hexosaminidase alpha-subunit deficiency (variant B)" RELATED [GARD:0007737]
synonym: "sphingolipidosis, Tay-Sachs" RELATED [GARD:0007737]
synonym: "Tay Sachs Disease" EXACT [NORD:1761]
synonym: "TAY-Sachs disease" RELATED [OMIM:272800]
synonym: "Tay-Sachs disease" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:272800]
synonym: "Tay-Sachs disease, juvenile" RELATED [OMIM:272800]
synonym: "Tay-Sachs disease, pseudo-Ab variant" RELATED [OMIM:272800]
synonym: "Tay-Sachs disease, variant B1" RELATED [OMIM:272800]
synonym: "TSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272800]
xref: DOID:3320 {source="MONDO:equivalentTo"}
xref: GARD:7737 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:845/ntbt", source="Orphanet:845/inclusion", source="Orphanet:845"}
xref: ICD10CM:E75.02 {source="DOID:3320", source="MONDO:equivalentTo"}
xref: MedDRA:10043147 {source="Orphanet:845", source="Orphanet:845/e"}
xref: MEDGEN:11713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013661 {source="DOID:3320", source="Orphanet:845", source="MONDO:equivalentTo", source="Orphanet:845/e"}
xref: NANDO:1200071 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201199 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85184 {source="DOID:3320", source="MONDO:equivalentTo"}
xref: NORD:1761 {source="MONDO:NORD"}
xref: OMIM:272800 {source="DOID:3320", source="Orphanet:845", source="MONDO:equivalentTo", source="Orphanet:845/e"}
xref: Orphanet:845 {source="OMIM:272800", source="MONDO:equivalentTo"}
xref: SCTID:111385000 {source="DOID:3320", source="MONDO:equivalentTo"}
xref: UMLS:C0039373 {source="MEDGEN:11713", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="DOID:3320/inferred", source="MESH:D013661/inferred", source="Orphanet:845/inferred", source="PMID:21723623"} ! lysosomal storage disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0017720 {source="DOID:3320", source="ICD10CM:E75.02", source="MESH:D013661", source="Orphanet:845"} ! GM2 gangliosidosis
is_a: MONDO:0019255 {source="DOID:3320/inferred", source="MESH:D013661/inferred", source="MONDO:Redundant", source="NCIT:C85184", source="Orphanet:845/inferred"} ! sphingolipidosis
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0020143 {source="Orphanet:845"} ! cerebral lipidosis with dementia
relationship: disease_has_basis_in_disruption_of GO:0004563 ! beta-N-acetylhexosaminidase activity
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4878 {source="MONDO:mim2gene_medgen"} ! HEXA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease" xsd:anyURI {source="GARD:0007737"}

[Term]
id: MONDO:0010101
name: Teebi-Shaltout syndrome
def: "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features." [Orphanet:3291]
subset: gard_rare {source="GARD:5125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3291"}
subset: ordo_malformation_syndrome {source="Orphanet:3291"}
subset: orphanet_rare {source="Orphanet:3291"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" RELATED [OMIM:272950]
synonym: "TBSH" RELATED ABBREVIATION [OMIM:272950]
synonym: "Teebi Shaltout syndrome" RELATED [GARD:0005125]
synonym: "Teebi-Shaltout syndrome" EXACT [OMIM:272950]
xref: GARD:5125 {source="MONDO:GARD"}
xref: MEDGEN:376472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"}
xref: OMIM:272950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"}
xref: Orphanet:3291 {source="MONDO:equivalentTo", source="OMIM:272950"}
xref: UMLS:C1848912 {source="MEDGEN:376472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0019287 {source="Orphanet:3291"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome" xsd:anyURI {source="GARD:0005125"}

[Term]
id: MONDO:0010102
name: taurodontia-absent teeth-sparse hair syndrome
def: "This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families." [Orphanet:2731]
subset: gard_rare {source="GARD:5118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:2731"}
subset: rare
synonym: "taurodontia, absent teeth, and sparse hair" RELATED [OMIM:272980]
synonym: "taurodontia, absent teeth, sparse hair syndrome" RELATED [GARD:0005118]
synonym: "teeth, congenital absence of, with taurodontia and sparse hair" RELATED [OMIM:272980]
xref: GARD:5118 {source="MONDO:GARD"}
xref: MEDGEN:338570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536945 {source="Orphanet:2731", source="MONDO:equivalentTo", source="Orphanet:2731/e"}
xref: OMIM:272980 {source="Orphanet:2731", source="MONDO:equivalentTo", source="Orphanet:2731/e"}
xref: Orphanet:2731 {source="MONDO:equivalentObsolete", source="OMIM:272980"}
xref: UMLS:C1848909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338570"}
is_a: MONDO:0019287 {source="MESH:C536945", source="Orphanet:2731"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome" xsd:anyURI {source="GARD:0005118"}

[Term]
id: MONDO:0010103
name: teeth, fused
synonym: "teeth, fused" EXACT [OMIM:273000]
xref: MEDGEN:4808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005671 {source="MONDO:equivalentTo"}
xref: OMIM:273000 {source="MONDO:equivalentTo"}
xref: SCTID:1744008 {source="MONDO:equivalentTo"}
xref: UMLS:C0016873 {source="MEDGEN:4808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010104
name: non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
def: "Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears." [Orphanet:2972]
subset: gard_rare {source="GARD:5027", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2972"}
subset: ordo_malformation_syndrome {source="Orphanet:2972"}
subset: orphanet_rare {source="Orphanet:2972"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" RELATED [GARD:0005027]
synonym: "multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" RELATED [GARD:0005127]
synonym: "non erupted teeth with maxillary hypoplasia and genu valgum" RELATED [GARD:0005027]
synonym: "Stoelinga de Koomen Davis syndrome" RELATED [GARD:0005027]
synonym: "Stoelinga-de Koomen-Davis syndrome" EXACT [Orphanet:2972]
synonym: "teeth noneruption of with maxillary hypoplasia and genu valgum" RELATED [GARD:0005127]
synonym: "teeth, noneruption of, with maxillary hypoplasia and genu valgum" RELATED [OMIM:273050]
xref: GARD:5027 {source="MONDO:GARD"}
xref: MEDGEN:341331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536952 {source="Orphanet:2972", source="Orphanet:2972/e"}
xref: MESH:C537496 {source="Orphanet:2972", source="Orphanet:2972/e"}
xref: OMIM:273050 {source="GARD:0005027", source="GARD:0005127", source="Orphanet:2972", source="MONDO:equivalentTo", source="Orphanet:2972/e"}
xref: Orphanet:2972 {source="OMIM:273050", source="MONDO:equivalentTo"}
xref: SCTID:723442008 {source="MONDO:equivalentTo"}
xref: UMLS:C1848903 {source="MONDO:equivalentTo", source="MEDGEN:341331", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:2972", source="Orphanet:2972/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0010105
name: teratoma, pineal
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "teratoma, pineal" EXACT [OMIM:273120]
xref: MEDGEN:336449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537401 {source="MONDO:equivalentTo"}
xref: OMIM:273120 {source="MONDO:equivalentTo"}
xref: UMLS:C1848902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336449"}
is_a: MONDO:0002601 {source="MESH:C537401", source="MONDO:Redundant"} ! teratoma
relationship: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0010106
name: testes, rudimentary
synonym: "testes, rudimentary" EXACT [OMIM:273150]
xref: MEDGEN:336448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:273150 {source="MONDO:equivalentTo"}
xref: UMLS:C1848901 {source="MEDGEN:336448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010107
name: obsolete testicular regression syndrome
comment: This term was split into two terms: MONDO:8000015 46,XY SEX REVERSAL 11 and MONDO:800012 testicular regression syndrome'.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1447" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:800012

[Term]
id: MONDO:0010108
name: testicular germ cell tumor
def: "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C8591]
subset: disease_grouping
subset: gard_rare {source="GARD:13047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:363504"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "embryonal cell carcinoma" RELATED [OMIM:273300]
synonym: "endodermal sinus tumor" RELATED [OMIM:273300]
synonym: "endodermal sinus tumour" RELATED OMO:0003005 []
synonym: "germ cell neoplasm of testis" EXACT [NCIT:C8591]
synonym: "germ cell neoplasm of the testis" EXACT [NCIT:C8591]
synonym: "germ cell tumor of testis" EXACT [DOID:5557, MONDO:0018196, NCIT:C8591]
synonym: "germ cell tumor of the testis" EXACT [NCIT:C8591]
synonym: "germ cell tumors, somatic" EXACT [OMIM:273300, OMIM:genemap2]
synonym: "germ cell tumour of testis" EXACT OMO:0003005 []
synonym: "germ cell tumour of the testis" EXACT OMO:0003005 []
synonym: "Male germ cell tumor" RELATED [OMIM:273300]
synonym: "male germ cell tumor, somatic" EXACT [OMIM:273300, OMIM:genemap2]
synonym: "Male germ cell tumour" RELATED OMO:0003005 []
synonym: "nonseminomatous germ cell tumors" RELATED [OMIM:273300]
synonym: "nonseminomatous germ cell tumours" RELATED OMO:0003005 []
synonym: "seminoma" RELATED [OMIM:273300]
synonym: "spermatocytic seminoma" RELATED [OMIM:273300]
synonym: "spermatocytic seminoma, somatic" EXACT [OMIM:273300, OMIM:genemap2]
synonym: "teratoma, testicular" RELATED [OMIM:273300]
synonym: "testicular germ cell cancer" RELATED [DOID:5557]
synonym: "testicular germ cell neoplasm" EXACT [DOID:5557, NCIT:C8591]
synonym: "testicular germ cell neoplasms" EXACT [NCIT:C8591]
synonym: "testicular germ cell tumor" EXACT [MONDO:Lexical, NCIT:C8591, OMIM:273300, Orphanet:363504]
synonym: "testicular tumor, somatic" EXACT [OMIM:273300, OMIM:genemap2]
synonym: "testis germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "testis germ cell tumour" EXACT OMO:0003005 []
synonym: "TGCT" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C8591, OMIM:273300]
xref: DOID:5557 {source="MONDO:equivalentTo"}
xref: EFO:1000566 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13047 {source="MONDO:GARD"}
xref: ICD10CM:C62.1 {source="Orphanet:363504", source="Orphanet:363504/ntbt"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:277809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563236 {source="DOID:5557", source="MONDO:equivalentTo"}
xref: NCIT:C8591 {source="DOID:5557", source="MONDO:equivalentTo"}
xref: OMIM:273300 {source="Orphanet:363504/e", source="DOID:5557", source="MONDO:equivalentTo", source="EFO:1000566", source="Orphanet:363504"}
xref: Orphanet:363483 {source="OMIM:273300"}
xref: Orphanet:363494 {source="OMIM:273300"}
xref: Orphanet:363504 {source="MONDO:equivalentTo", source="OMIM:273300"}
xref: Orphanet:3636504 {source="DOID:5557"}
xref: Orphanet:842 {source="OMIM:273300"}
xref: Orphanet:876 {source="MONDO:directSiblingOf", source="OMIM:273300"}
xref: Orphanet:99865 {source="OMIM:273300"}
xref: SCTID:713577007 {source="DOID:5557", source="MONDO:equivalentTo"}
xref: UMLS:C1336708 {source="MEDGEN:277809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002329 {source="DOID:5557/inferred", source="MESH:C563236/inferred", source="MONDO:Redundant", source="NCIT:C8591/inferred"} ! testicular disorder
is_a: MONDO:0005040 {source="DOID:5557/inferred", source="EFO:1000566", source="MONDO:Redundant", source="NCIT:C8591"} ! germ cell tumor
is_a: MONDO:0018202 {source="Orphanet:363504"} ! gonadal germ cell tumor
is_a: MONDO:0021348 {source="EFO:1000566", source="MONDO:Redundant", source="NCIT:C8591"} ! neoplasm of testis
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0000473 ! testis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010109
name: tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
synonym: "Madokoro Ohdo Sonoda syndrome" RELATED [GARD:0003348]
synonym: "tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality" RELATED [GARD:0003348]
synonym: "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" EXACT [OMIM:273390]
xref: MEDGEN:444003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536496 {source="MONDO:equivalentTo"}
xref: OMIM:273390 {source="GARD:0003348", source="MONDO:equivalentTo"}
xref: UMLS:C2931214 {source="MEDGEN:444003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536496/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3348/madokoro-ohdo-sonoda-syndrome" xsd:anyURI {source="GARD:0003348"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5146/tetraamelia-with-ectodermal-dysplasia-and-lacrimal-duct-abnormalities" xsd:anyURI {source="GARD:0005146"}

[Term]
id: MONDO:0010110
name: tetraamelia-multiple malformations syndrome
def: "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." [Orphanet:3301]
subset: gard_rare {source="GARD:386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3301"}
subset: ordo_malformation_syndrome {source="Orphanet:3301"}
subset: orphanet_rare {source="Orphanet:3301"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TETAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273395]
synonym: "Tetraamelia multiple malformations X-linked" RELATED [GARD:0000386]
synonym: "TETRAAMELIA syndrome, autosomal recessive" RELATED [MONDO:Lexical, OMIM:273395]
synonym: "Zimmer phocomelia" EXACT [Orphanet:3301]
synonym: "Zimmer Taub Sova syndrome" RELATED [GARD:0000386]
xref: DOID:0112191 {source="MONDO:equivalentTo"}
xref: GARD:386 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3301", source="Orphanet:3301/attributed", source="Orphanet:3301/ntbt"}
xref: MEDGEN:419746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536500 {source="Orphanet:3301", source="MONDO:equivalentTo", source="Orphanet:3301/e"}
xref: OMIMPS:273395 {source="MONDO:equivalentTo"}
xref: Orphanet:3301 {source="MONDO:equivalentTo", source="OMIM:273395"}
xref: SCTID:716249009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931218 {source="MEDGEN:419746", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015161 {source="Orphanet:3301"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:273395"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010111
name: odontotrichomelic syndrome
def: "Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." [Orphanet:2723]
subset: gard_rare {source="GARD:2381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2723"}
subset: ordo_malformation_syndrome {source="Orphanet:2723"}
subset: orphanet_rare {source="Orphanet:2723"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Freire-Maia odontotrichomelic syndrome" EXACT [MONDO:0023191]
synonym: "Freire-Maia syndrome" EXACT [Orphanet:2723]
synonym: "odontotrichomelic hypohidrotic dysplasia" EXACT [GARD:0002381, MESH:C535637]
synonym: "odontotrichomelic syndrome" EXACT [OMIM:273400]
synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT [OMIM:273400]
xref: GARD:2381 {source="MONDO:GARD"}
xref: MEDGEN:443944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535637 {source="MONDO:equivalentTo"}
xref: OMIM:273400 {source="MONDO:equivalentTo", source="Orphanet:2723", source="Orphanet:2723/e"}
xref: Orphanet:2723 {source="MONDO:equivalentTo", source="OMIM:273400"}
xref: SCTID:239028001 {source="MONDO:equivalentTo"}
xref: UMLS:C2930960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443944"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019287 {source="MESH:C535637"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome" xsd:anyURI {source="GARD:0002381"}

[Term]
id: MONDO:0010112
name: thalamic degeneration, symmetric infantile
subset: gard_rare {source="GARD:5160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "symmetric infantile thalamic degeneration" RELATED [GARD:0005160]
synonym: "symmetrical thalamic degeneration in infants" RELATED [GARD:0005160]
synonym: "thalamic degeneration, symmetric infantile" EXACT [OMIM:273490]
xref: GARD:5160 {source="MONDO:GARD"}
xref: MEDGEN:419748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536504 {source="MONDO:equivalentTo"}
xref: OMIM:273490 {source="MONDO:equivalentTo"}
xref: Orphanet:3311 {source="MONDO:equivalentObsolete", source="OMIM:273490"}
xref: UMLS:C2931220 {source="MEDGEN:419748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5160/thalamic-degeneration-symmetric-infantile" xsd:anyURI {source="GARD:0005160"}

[Term]
id: MONDO:0010113
name: obsolete thalidomide susceptibility
comment: Reason: out of scope. Term to consider: None
synonym: "thalidomide susceptibility" EXACT [OMIM:273600]
xref: OMIM:273600 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4363" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0010114
name: thanatophoric dysplasia, Glasgow variant
subset: gard_rare {source="GARD:5165", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neonatally lethal short-limb skeletal dysplasia, Glasgow type" RELATED [OMIM:273680]
synonym: "thanatophoric dysplasia, Glasgow variant" EXACT [OMIM:273680]
xref: GARD:5165 {source="MONDO:GARD"}
xref: MEDGEN:376457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536506 {source="MONDO:equivalentTo"}
xref: OMIM:273680 {source="MONDO:equivalentTo"}
xref: Orphanet:93275 {source="MONDO:equivalentObsolete", source="OMIM:273680"}
xref: UMLS:C1848865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376457"}
is_a: MONDO:0017042 {source="DC-OMIM:273680", source="MESH:C536506"} ! thanatophoric dysplasia

[Term]
id: MONDO:0010115
name: thoracic dysplasia-hydrocephalus syndrome
subset: gard_rare {source="GARD:5180", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1861"}
subset: ordo_malformation_syndrome {source="Orphanet:1861"}
subset: orphanet_rare {source="Orphanet:1861"}
subset: rare
synonym: "thoracic dysplasia hydrocephalus syndrome" RELATED [GARD:0005180]
synonym: "thoracic dysplasia-hydrocephalus syndrome" EXACT [OMIM:273730]
xref: GARD:5180 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1861/ntbt", source="Orphanet:1861"}
xref: MEDGEN:338562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564774 {source="MONDO:equivalentTo"}
xref: OMIM:273730 {source="Orphanet:1861", source="MONDO:equivalentTo", source="Orphanet:1861/e"}
xref: Orphanet:1861 {source="MONDO:equivalentTo", source="OMIM:273730"}
xref: UMLS:C1848864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338562"}
is_a: MONDO:0015929 {source="Orphanet:1861"} ! thoracic malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome" xsd:anyURI {source="GARD:0005180"}

[Term]
id: MONDO:0010116
name: thoracomelic dysplasia
subset: gard_rare {source="GARD:10612", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1803"}
subset: orphanet_rare {source="Orphanet:1803"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "'thoraco-limb' dysplasia" RELATED [OMIM:273740]
synonym: "Rivera-Perez-Salas syndrome" EXACT [Orphanet:1803]
synonym: "thoraco-limb dysplasia" RELATED [GARD:0010612]
synonym: "thoracolimb dysplasia, Rivera type" EXACT [Orphanet:1803]
synonym: "thoracomelic dysplasia" EXACT [OMIM:273740]
xref: GARD:10612 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:1803/attributed", source="Orphanet:1803/ntbt", source="Orphanet:1803"}
xref: MEDGEN:336441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564773 {source="MONDO:equivalentTo"}
xref: OMIM:273740 {source="Orphanet:1803/e", source="MONDO:equivalentTo", source="Orphanet:1803"}
xref: Orphanet:1803 {source="MONDO:equivalentTo", source="OMIM:273740"}
xref: UMLS:C1848863 {source="MEDGEN:336441", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="MONDO:Entailed"} ! respiratory system disorder
is_a: MONDO:0015929 {source="Orphanet:1803"} ! thoracic malformation
is_a: MONDO:0019691 {source="Orphanet:1803"} ! short rib dysplasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare

[Term]
id: MONDO:0010117
name: 3M syndrome 1
def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15239", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "3-M syndrome 1" EXACT [OMIM:273750, OMIM:genemap2]
synonym: "3-M syndrome caused by mutation in CUL7" EXACT []
synonym: "3-M syndrome caused by mutation in Cul7" EXACT [MONDO:design_pattern]
synonym: "3M syndrome" RELATED [OMIM:273750]
synonym: "3M1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273750]
synonym: "CUL7 3-M syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Cul7 3-M syndrome" EXACT [MONDO:design_pattern]
synonym: "Dolichospondylic dysplasia" RELATED [OMIM:273750]
synonym: "gloomy face syndrome" RELATED [OMIM:273750]
synonym: "Le Merrer syndrome" RELATED [OMIM:273750]
synonym: "three M syndrome 1" EXACT [MONDO:Lexical, OMIM:273750]
synonym: "three M syndrome type 1" EXACT [MONDORULE:1, OMIM:273750]
synonym: "Yakut short stature syndrome" RELATED [OMIM:273750]
xref: GARD:15239 {source="MONDO:GARD"}
xref: MEDGEN:395592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:273750 {source="MONDO:equivalentTo"}
xref: Orphanet:2616 {source="OMIM:273750"}
xref: UMLS:C2678312 {source="MEDGEN:395592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007477 {source="DC-OMIM:273750", source="MONDO:Redundant", source="OMIM:273750"} ! 3-M syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0007477 ! 3-M syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21024 ! CUL7
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:273750"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21024 {source="MONDO:mim2gene_medgen"} ! CUL7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010118
name: inherited threoninemia
subset: gard_rare {source="MONDO:GARD"}
subset: n_of_one {source="OMIM:273770"}
subset: rare
synonym: "hyperthreoninemia" BROAD [OMIM:273770]
synonym: "threoninemia" EXACT [OMIM:273770]
xref: MEDGEN:336439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:273770 {source="MONDO:equivalentTo"}
xref: UMLS:C1848861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336439"}
is_a: MONDO:0019052 ! inborn errors of metabolism
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0010119
name: obsolete Glanzmann's thrombasthenia
xref: NANDO:2200657 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200664 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2940" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0031332

[Term]
id: MONDO:0010120
name: thrombocytopenia 3
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18288", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "THC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:273900]
synonym: "thrombocytopenia 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:273900]
synonym: "thrombocytopenia, autosomal recessive, 3" RELATED [OMIM:273900]
xref: GARD:18288 {source="MONDO:GARD"}
xref: MEDGEN:437174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567487 {source="MONDO:equivalentTo"}
xref: OMIM:273900 {source="MONDO:equivalentTo"}
xref: Orphanet:168629 {source="OMIM:273900"}
xref: Orphanet:268322 {source="OMIM:273900"}
xref: UMLS:C2678311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:437174"}
is_a: MONDO:0100241 {source="DC-OMIM:273900", source="MESH:C567487", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4036 {source="MONDO:mim2gene_medgen"} ! FYB1

[Term]
id: MONDO:0010121
name: thrombocytopenia-absent radius syndrome
def: "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." [Orphanet:3320]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5116", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1768"}
subset: ordo_disorder {source="Orphanet:3320"}
subset: ordo_malformation_syndrome {source="Orphanet:3320"}
subset: orphanet_rare {source="Orphanet:3320"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome" EXACT [DECIPHER:64]
synonym: "absent radii and thrombocytopenia" RELATED [GARD:0005116]
synonym: "chromosome 1q21.1 deletion syndrome" RELATED EXCLUDE [DOID:14699]
synonym: "chromosome 1Q21.1 deletion syndrome, 200-Kb" RELATED [OMIM:274000]
synonym: "radial aplasia-thrombocytopenia syndrome" EXACT [NCIT:C99038]
synonym: "TAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274000]
synonym: "TAR syndrome" EXACT [Orphanet:3320]
synonym: "Tar syndrome" RELATED [OMIM:274000]
synonym: "thrombocytopenia absent radii" RELATED [GARD:0005116]
synonym: "Thrombocytopenia Absent Radius Syndrome" EXACT [NORD:1768]
synonym: "thrombocytopenia absent radius syndrome" RELATED [GARD:0005116]
synonym: "thrombocytopenia with absent radii (TAR) syndrome" EXACT [DOID:14699]
synonym: "thrombocytopenia-absent radius syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:274000]
xref: DECIPHER:64 {source="MONDO:equivalentTo"}
xref: DOID:14699 {source="MONDO:equivalentTo"}
xref: GARD:5116 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:3320", source="Orphanet:3320/ntbt", source="Orphanet:3320/inclusion", source="DOID:14699"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071719 {source="Orphanet:3320", source="Orphanet:3320/e"}
xref: MEDGEN:61235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536940 {source="MONDO:equivalentTo", source="DOID:14699"}
xref: NANDO:2200661 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99038 {source="MONDO:equivalentTo", source="DOID:14699"}
xref: NORD:1768 {source="MONDO:NORD"}
xref: OMIM:274000 {source="Orphanet:3320", source="MONDO:equivalentTo", source="Orphanet:3320/e", source="DOID:14699"}
xref: Orphanet:3320 {source="MONDO:equivalentTo", source="OMIM:274000"}
xref: SCTID:85589009 {source="MONDO:equivalentTo", source="DOID:14699"}
xref: UMLS:C0175703 {source="MEDGEN:61235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99038"} ! syndromic disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0018795 {source="Orphanet:3320"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: excluded_subClassOf MONDO:0000761 {source="DOID:14699", source="https://orcid.org/0000-0001-5208-3432"} ! syndrome caused by partial chromosomal deletion
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9905 {source="MONDO:mim2gene_medgen"} ! RBM8A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010122
name: congenital thrombotic thrombocytopenic purpura
def: "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." [Orphanet:93583]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9430", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93583"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ADAMTS-13 deficiency" EXACT [Orphanet:93583]
synonym: "congenital ADAMTS13 deficiency" EXACT [NCIT:C131657]
synonym: "congenital thrombotic thrombocytopenic purpura" EXACT CLINGEN_LABEL []
synonym: "congenital TTP" EXACT [Orphanet:93583]
synonym: "familial TTP" EXACT [Orphanet:93583]
synonym: "hereditary thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/hereditary]
synonym: "Microangiopathic hemolytic Anaemia" RELATED OMO:0003005 []
synonym: "Microangiopathic hemolytic Anemia" RELATED [OMIM:274150]
synonym: "Microangiopathic hemolytic Anemia, congenital" RELATED [OMIM:274150]
synonym: "Schulman-Upshaw syndrome" RELATED [OMIM:274150]
synonym: "thrombotic microangiopathy, familial" RELATED [OMIM:274150]
synonym: "thrombotic thrombocytopenic purpura, congenital" RELATED [MONDO:Lexical, OMIM:274150]
synonym: "thrombotic thrombocytopenic purpura, familial" RELATED [OMIM:274150]
synonym: "thrombotic thrombocytopenic purpura, hereditary" EXACT [OMIM:274150, OMIM:genemap2]
synonym: "TTP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274150]
synonym: "TTP, congenital" RELATED [GARD:0009430]
synonym: "Upshaw Factor, deficiency of" RELATED [OMIM:274150]
synonym: "Upshaw-Schulman syndrome" EXACT [OMIM:274150, Orphanet:93583]
synonym: "USS" RELATED ABBREVIATION [GARD:0009430]
xref: GARD:9430 {source="MONDO:GARD"}
xref: ICD10CM:M31.3 {source="Orphanet:93583/attributed", source="Orphanet:93583/ntbt", source="MONDO:relatedTo", source="Orphanet:93583"}
xref: ICD9:287.33 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200317 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131657 {source="MONDO:equivalentTo"}
xref: OMIM:274150 {source="Orphanet:93583", source="MONDO:equivalentTo", source="Orphanet:93583/e"}
xref: Orphanet:54057 {source="OMIM:274150"}
xref: Orphanet:93583 {source="OMIM:274150", source="MONDO:equivalentTo"}
xref: SCTID:373420004 {source="MONDO:equivalentTo"}
xref: UMLS:C1268935 {source="MEDGEN:224783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018896 {source="MONDO:Redundant", source="NCIT:C131657", source="Orphanet:93583"} ! thrombotic thrombocytopenic purpura
is_a: MONDO:0021181 {source="MONDO:Entailed", source="Orphanet:93583"} ! inherited blood coagulation disorder
intersection_of: MONDO:0018896 ! thrombotic thrombocytopenic purpura
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:93583/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1366 {source="MONDO:mim2gene_medgen"} ! ADAMTS13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010123
name: obsolete absent thumb-short stature-immunodeficiency syndrome
def: "OBSOLETE. An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." [Orphanet:2951]
subset: ordo_disorder {source="Orphanet:2951"}
subset: ordo_malformation_syndrome {source="Orphanet:2951"}
subset: otar {source="MONDO:OTAR"}
synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [OMIM:274190]
xref: GARD:16615 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D82.8 {source="Orphanet:2951/attributed", source="Orphanet:2951/ntbt", source="Orphanet:2951"}
xref: MESH:C564770 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:274190 {source="MONDO:obsoleteEquivalent", source="Orphanet:2951", source="Orphanet:2951/e"}
xref: Orphanet:2951 {source="OMIM:274190", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6770" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0010124
name: thumb, distal hyperextensibility of
synonym: "thumb, distal hyperextensibility of" EXACT [OMIM:274200]
xref: MEDGEN:338552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:274200 {source="MONDO:equivalentTo"}
xref: UMLS:C1848817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338552"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010125
name: upper limb defect-eye and ear abnormalities syndrome
def: "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." [Orphanet:2489]
subset: gard_rare {source="GARD:16602", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2489"}
subset: ordo_malformation_syndrome {source="Orphanet:2489"}
subset: orphanet_rare {source="Orphanet:2489"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" RELATED [OMIM:274205]
xref: GARD:16602 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2489/attributed", source="Orphanet:2489/ntbt", source="Orphanet:2489"}
xref: MEDGEN:376448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564769 {source="MONDO:equivalentTo"}
xref: OMIM:274205 {source="Orphanet:2489", source="MONDO:equivalentTo", source="Orphanet:2489/e"}
xref: Orphanet:2489 {source="MONDO:equivalentTo", source="OMIM:274205"}
xref: UMLS:C1848816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376448"}
is_a: MONDO:0015159 {source="Orphanet:2489"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2489", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010126
name: thymic aplasia with fetal death
synonym: "thymic aplasia with fetal death" EXACT [OMIM:274210]
xref: MEDGEN:341312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564768 {source="MONDO:equivalentTo"}
xref: OMIM:274210 {source="MONDO:equivalentTo"}
xref: UMLS:C1848815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341312"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010127
name: thymoma, familial
def: "An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary thymoma (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "thymic neoplasia" RELATED [OMIM:274230]
synonym: "thymoma, familial" EXACT [OMIM:274230]
xref: MEDGEN:376447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564767 {source="MONDO:equivalentTo"}
xref: OMIM:274230 {source="MONDO:equivalentTo"}
xref: Orphanet:99867 {source="OMIM:274230"}
xref: UMLS:C1848814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376447"}
is_a: MONDO:0006456 {source="MONDO:Redundant", source="Orphanet:99867/btnt"} ! thymoma
intersection_of: MONDO:0006456 ! thymoma
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0010128
name: thyrocerebrorenal syndrome
def: "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait." [Orphanet:3327]
subset: gard_rare {source="GARD:1646", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3327"}
subset: ordo_malformation_syndrome {source="Orphanet:3327"}
subset: orphanet_rare {source="Orphanet:3327"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cutler Bass Romshe syndrome" EXACT [MONDO:0022913]
synonym: "Cutler-Bass-Romshe syndrome" EXACT [Orphanet:3327]
synonym: "thyrocerebral-retinal syndrome" RELATED [GARD:0005203]
synonym: "thyrocerebroretinal syndrome" EXACT [OMIM:274240]
xref: GARD:1646 {source="MONDO:GARD"}
xref: MEDGEN:341311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536908 {source="MONDO:equivalentTo"}
xref: OMIM:274240 {source="MONDO:equivalentTo", source="Orphanet:3327", source="Orphanet:3327/e"}
xref: Orphanet:3327 {source="MONDO:equivalentTo", source="OMIM:274240"}
xref: SCTID:733096007 {source="MONDO:equivalentTo"}
xref: UMLS:C1848813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341311"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7161" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1646/cutler-bass-romshe-syndrome" xsd:anyURI {source="GARD:0001646"}

[Term]
id: MONDO:0010129
name: thymic-renal-anal-lung dysplasia
def: "This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." [Orphanet:3326]
subset: gard_rare {source="GARD:5202", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3326"}
subset: ordo_malformation_syndrome {source="Orphanet:3326"}
subset: orphanet_rare {source="Orphanet:3326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)" RELATED [GARD:0005202]
synonym: "thymic-renal-anal-lung dysplasia" EXACT [OMIM:274265]
xref: GARD:5202 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3326", source="Orphanet:3326/attributed", source="Orphanet:3326/ntbt"}
xref: MEDGEN:336425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536907 {source="MONDO:equivalentTo", source="Orphanet:3326", source="Orphanet:3326/e"}
xref: OMIM:274265 {source="MONDO:equivalentTo", source="Orphanet:3326", source="Orphanet:3326/e"}
xref: Orphanet:3326 {source="MONDO:equivalentTo", source="OMIM:274265"}
xref: SCTID:723555007 {source="MONDO:equivalentTo"}
xref: UMLS:C1848812 {source="MONDO:equivalentTo", source="MEDGEN:336425", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3326"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia" xsd:anyURI {source="GARD:0005202"}

[Term]
id: MONDO:0010130
name: dihydropyrimidine dehydrogenase deficiency
def: "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency]
subset: gard_rare {source="GARD:19", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1675"}
subset: orphanet_rare {source="Orphanet:1675"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dihydropyrimidine dehydrogenase deficiency" EXACT [OMIM:274270]
synonym: "dihydrouracil dehydrogenase deficiency" EXACT [DOID:14218, NCIT:C3964]
synonym: "DPD deficiency" RELATED [OMIM:274270]
synonym: "Dpyd deficiency" RELATED [OMIM:274270]
synonym: "DYPD deficiency" EXACT [NCIT:C84672]
synonym: "familial pyrimidinaemia" EXACT [DOID:14218]
synonym: "familial pyrimidinemia" EXACT [Orphanet:1675]
synonym: "hereditary thymine-uraciluria" RELATED [GARD:0000019]
synonym: "pyrimidinemia, familial" RELATED [OMIM:274270]
synonym: "thymine-uracilurea" EXACT [DOID:14218]
synonym: "thymine-Uraciluria, hereditary" RELATED [OMIM:274270]
xref: DOID:14218 {source="MONDO:equivalentTo"}
xref: GARD:19 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:1675/attributed", source="Orphanet:1675/ntbt", source="Orphanet:1675"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10052622 {source="Orphanet:1675", source="Orphanet:1675/e"}
xref: MEDGEN:409522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054067 {source="DOID:14218", source="Orphanet:1675", source="MONDO:equivalentTo", source="Orphanet:1675/e"}
xref: NCIT:C3964 {source="DOID:14218"}
xref: NCIT:C84672 {source="DOID:14218", source="MONDO:equivalentTo"}
xref: OMIM:274270 {source="DOID:14218", source="Orphanet:1675", source="MONDO:equivalentTo", source="Orphanet:1675/e"}
xref: Orphanet:1675 {source="OMIM:274270", source="MONDO:equivalentTo"}
xref: SCTID:238016000 {source="DOID:14218"}
xref: SCTID:77365006 {source="DOID:14218", source="MONDO:equivalentTo"}
xref: UMLS:C1959620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409522"}
is_a: MONDO:0018381 {source="MONDO:Redundant", source="Orphanet:1675"} ! osteochondrosis
is_a: MONDO:0019052 {source="DOID:14218/inferred", source="MESH:D054067/inferred", source="MONDO:Redundant", source="NCIT:C84672", source="Orphanet:1675/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019238 {source="Orphanet:1675"} ! inborn disorder of pyrimidine metabolism
is_a: MONDO:0019254 {source="DOID:14218", source="MESH:D054067", source="MONDO:Redundant", source="Orphanet:1675/inferred"} ! inborn disorder of purine or pyrimidine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3012 {source="MONDO:mim2gene_medgen"} ! DPYD
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0000019"}

[Term]
id: MONDO:0010131
name: thyroid hormone resistance, generalized, autosomal recessive
def: "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum." [NCIT:C85191]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GRTH" RELATED ABBREVIATION [GARD:0000301, MONDO:Lexical, OMIM:274300]
synonym: "Gthr" RELATED [OMIM:274300]
synonym: "Refetoff syndrome" RELATED [GARD:0000301, OMIM:274300]
synonym: "THRB" RELATED ABBREVIATION [GARD:0000301]
synonym: "thyroid hormone receptor BETA" RELATED [GARD:0000301]
synonym: "thyroid hormone resistance" BROAD [NCIT:C85191]
synonym: "thyroid hormone resistance syndrome" BROAD [NCIT:C85191]
synonym: "thyroid hormone resistance, autosomal recessive" EXACT [OMIM:274300, OMIM:genemap2]
synonym: "thyroid hormone resistance, generalized, autosomal recessive" EXACT [MONDO:Lexical, OMIM:274300]
synonym: "thyroid hormone unresponsiveness" RELATED [OMIM:274300]
xref: HGNC:11799 {source="GARD:0000301"}
xref: MEDGEN:483749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567936 {source="MONDO:equivalentTo"}
xref: NANDO:1200395 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100121 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200341 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85191 {source="MONDO:NCIT", source="MONDO:equivalentTo"}
xref: OMIM:274300 {source="MONDO:equivalentTo"}
xref: Orphanet:3221 {source="OMIM:274300"}
xref: UMLS:C3489796 {source="MEDGEN:483749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001328 {source="DC-OMIM:274300", source="MONDO:Redundant", source="MONDO:indirect"} ! thyroid hormone resistance syndrome
is_a: MONDO:0009043 {source="Orphanet:3221/btnt"} ! generalized resistance to thyroid hormone
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:3221-moved-down", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11799 {source="MONDO:mim2gene_medgen"} ! THRB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010132
name: familial thyroid dyshormonogenesis
def: "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." [Orphanet:95716]
subset: gard_rare {source="GARD:16843", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95716"}
subset: orphanet_rare {source="Orphanet:95716"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dyshormonogenesis" BROAD [NCIT:C121751]
synonym: "nongoitrous hyperthyrotropinemia" EXACT [https://orcid.org/0000-0001-7451-4467, https://orcid.org/0000-0002-0736-9199]
synonym: "thyroid dyshormonogenesis" EXACT [Orphanet:95716]
xref: DOID:0112183 {source="MONDO:equivalentTo"}
xref: GARD:16843 {source="MONDO:GARD"}
xref: ICD10CM:E03.0 {source="Orphanet:95716/attributed", source="Orphanet:95716/ntbt", source="Orphanet:95716"}
xref: ICD10CM:E03.1 {source="Orphanet:95716/attributed", source="Orphanet:95716/ntbt", source="Orphanet:95716"}
xref: MEDGEN:903446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564766 {source="MONDO:equivalentTo"}
xref: NCIT:C121751 {source="MONDO:equivalentTo"}
xref: Orphanet:95716 {source="MONDO:equivalentTo", source="OMIM:274400"}
xref: SCTID:718183003 {source="MONDO:equivalentTo"}
xref: UMLS:C4273748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903446"}
is_a: MONDO:0018612 {source="MESH:C564766", source="MONDO:Redundant", source="NCIT:C121751", source="Orphanet:95716/inferred"} ! congenital hypothyroidism
relationship: disease_has_basis_in_disruption_of GO:0042403 ! thyroid hormone metabolic process
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/642" xsd:anyURI

[Term]
id: MONDO:0010133
name: thyroid dyshormonogenesis 2A
def: "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase." [NCIT:C121750]
subset: gard_rare {source="GARD:18189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial thyroid dyshormonogenesis caused by mutation in TPO" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2A" EXACT [OMIM:274500]
synonym: "iodide peroxidase deficiency" RELATED [OMIM:274500]
synonym: "TDH2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274500]
synonym: "thyroid dyshormonogenesis 2A" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:274500]
synonym: "thyroid dyshormonogenesis type 2A" EXACT [MONDORULE:4, OMIM:274500]
synonym: "thyroid hormonogenesis, genetic defect in, 2A" EXACT [OMIM:274500]
synonym: "thyroid peroxidase deficiency" RELATED [OMIM:274500]
synonym: "TPO familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112186 {source="MONDO:equivalentTo"}
xref: GARD:18189 {source="MONDO:GARD"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563206 {source="MONDO:equivalentTo"}
xref: NCIT:C121750 {source="MONDO:equivalentTo"}
xref: OMIM:274500 {source="MONDO:equivalentTo"}
xref: Orphanet:95716 {source="OMIM:274500"}
xref: SCTID:124204003 {source="MONDO:equivalentTo"}
xref: UMLS:C1291299 {source="MEDGEN:226940", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis
is_a: MONDO:0018612 {source="MESH:C563206", source="NCIT:C121750"} ! congenital hypothyroidism
intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12015 ! TPO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12015 {source="MONDO:mim2gene_medgen"} ! TPO

[Term]
id: MONDO:0010134
name: Pendred syndrome
def: "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." [Orphanet:705]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4271", source="MONDO:GARD"}
subset: nord_rare {source="NORD:2030", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:705"}
subset: ordo_malformation_syndrome {source="Orphanet:705"}
subset: orphanet_rare {source="Orphanet:705"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive sensorineural hearing impairment and goiter" RELATED [GARD:0004271]
synonym: "autosomal recessive sensorineural hearing impairment and goitre" RELATED OMO:0003005 []
synonym: "congenital hypothyroidism due to dyshormonogenesis 2B" EXACT [DOID:0060744]
synonym: "deafness with goiter" EXACT [DOID:0060744, OMIM:274600]
synonym: "deafness with goitre" EXACT OMO:0003005 []
synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT [DOID:0060744]
synonym: "goiter-deafness syndrome" EXACT [DOID:0060744, OMIM:274600, Orphanet:705]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2B" EXACT [OMIM:274600]
synonym: "PDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274600]
synonym: "Pendred syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:274600]
synonym: "TDH2B" EXACT ABBREVIATION [DOID:0060744]
synonym: "thyroid dyshormonogenesis 2B" EXACT [DOID:0060744, OMIM:274600]
synonym: "thyroid hormonogenesis, genetic defect in, 2B" EXACT [OMIM:274600]
xref: DOID:0060744 {source="MONDO:equivalentTo"}
xref: GARD:4271 {source="MONDO:GARD"}
xref: ICD10CM:E07.1 {source="Orphanet:705/inclusion", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/ntbt"}
xref: icd11.foundation:1156056623 {source="MONDO:equivalentTo", source="Orphanet:705"}
xref: MEDGEN:82890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536648 {source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/e"}
xref: NCIT:C121745 {source="MONDO:equivalentTo"}
xref: NORD:2030 {source="MONDO:NORD"}
xref: OMIM:274600 {source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/e"}
xref: Orphanet:705 {source="MONDO:equivalentTo", source="DOID:0060744", source="OMIM:274600"}
xref: SCTID:70348004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82890"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0060744", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0018612 {source="MONDO:Redundant", source="NCIT:C121745", source="Orphanet:705/inferred"} ! congenital hypothyroidism
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:274600", source="Orphanet:705"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010135
name: thyroid dyshormonogenesis 3
def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18190", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial thyroid dyshormonogenesis caused by mutation in TG" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 3" EXACT [OMIM:274700]
synonym: "TDH3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274700]
synonym: "TG familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "thyroid dyshormonogenesis 3" EXACT [MONDO:Lexical, OMIM:274700]
synonym: "thyroid dyshormonogenesis type 3" EXACT [MONDORULE:1, OMIM:274700]
synonym: "thyroid hormonogenesis, genetic defect in, 3" EXACT [OMIM:274700]
xref: DOID:0112187 {source="MONDO:equivalentTo"}
xref: GARD:18190 {source="MONDO:GARD"}
xref: MEDGEN:90976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562769 {source="MONDO:equivalentTo"}
xref: OMIM:274700 {source="MONDO:equivalentTo"}
xref: Orphanet:95716 {source="OMIM:274700"}
xref: SCTID:23536000 {source="MONDO:equivalentTo"}
xref: UMLS:C0342194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90976"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis
intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11764 ! TG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11764 {source="MONDO:mim2gene_medgen"} ! TG

[Term]
id: MONDO:0010136
name: thyroid dyshormonogenesis 4
def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deiodinase deficiency" RELATED [OMIM:274800]
synonym: "familial thyroid dyshormonogenesis caused by mutation in IYD" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 4" EXACT [OMIM:274800]
synonym: "iodotyrosine dehalogenase deficiency" RELATED [OMIM:274800]
synonym: "IYD familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TDH4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274800]
synonym: "thyroid dyshormonogenesis 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:274800]
synonym: "thyroid dyshormonogenesis type 4" EXACT [MONDORULE:1, OMIM:274800]
synonym: "thyroid hormonogenesis, genetic defect in, 4" EXACT [OMIM:274800]
xref: DOID:0112188 {source="MONDO:equivalentTo"}
xref: GARD:18191 {source="MONDO:GARD"}
xref: MEDGEN:87429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562770 {source="MONDO:equivalentTo"}
xref: OMIM:274800 {source="MONDO:equivalentTo"}
xref: Orphanet:95716 {source="OMIM:274800"}
xref: SCTID:17885001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342195 {source="MEDGEN:87429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis
intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21071 ! IYD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21071 {source="MONDO:mim2gene_medgen"} ! IYD

[Term]
id: MONDO:0010137
name: thyroid dyshormonogenesis 5
def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18192", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DUOXA2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOXA2" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 5" EXACT [OMIM:274900]
synonym: "TDH5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274900]
synonym: "thyroid dyshormonogenesis 5" EXACT [MONDO:Lexical, OMIM:274900]
synonym: "thyroid dyshormonogenesis type 5" EXACT [MONDORULE:1, OMIM:274900]
synonym: "thyroid hormonogenesis, genetic defect in, 5" EXACT [OMIM:274900]
xref: DOID:0112184 {source="MONDO:equivalentTo"}
xref: GARD:18192 {source="MONDO:GARD"}
xref: MEDGEN:87430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562771 {source="MONDO:equivalentTo"}
xref: OMIM:274900 {source="MONDO:equivalentTo"}
xref: Orphanet:95716 {source="OMIM:274900"}
xref: SCTID:63127008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87430"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis
intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32698 ! DUOXA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32698 {source="MONDO:mim2gene_medgen"} ! DUOXA2

[Term]
id: MONDO:0010138
name: thyrotoxicosis
def: "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
subset: predisposition
synonym: "Graves disease, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:275000]
synonym: "GRD" RELATED ABBREVIATION [OMIM:275000]
synonym: "GRD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275000]
synonym: "hyperthyroidism, autoimmune" RELATED [OMIM:275000]
xref: DOID:7997 {source="MONDO:equivalentTo"}
xref: EFO:0009190 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E05.9 {source="DOID:7997"}
xref: ICD9:242 {source="DOID:7997"}
xref: ICD9:242.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:242.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013971 {source="DOID:7997", source="MONDO:equivalentTo"}
xref: NCIT:C61469 {source="DOID:7997", source="MONDO:equivalentTo"}
xref: SCTID:154655004 {source="DOID:7997"}
xref: SCTID:154659005 {source="DOID:7997"}
xref: SCTID:190239004 {source="DOID:7997"}
xref: SCTID:190267008 {source="DOID:7997"}
xref: SCTID:267373004 {source="DOID:7997"}
xref: SCTID:267464006 {source="DOID:7997"}
xref: SCTID:286909009 {source="DOID:7997"}
xref: SCTID:90739004 {source="DOID:7997", source="MONDO:equivalentTo"}
xref: UMLS:C0040156 {source="MEDGEN:11814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004425 {source="EFO:0009190", source="MESH:D013971", source="MONDO:Redundant", source="NCIT:C61469"} ! hyperthyroidism
is_a: MONDO:0005364 {source="DC-OMIM:275000"} ! Graves disease

[Term]
id: MONDO:0010139
name: isolated thyroid-stimulating hormone deficiency
def: "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." [Orphanet:90674]
subset: gard_rare {source="GARD:10129", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90674"}
subset: orphanet_rare {source="Orphanet:90674"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHNG4" EXACT ABBREVIATION [DOID:0070123, MONDO:Lexical, OMIM:275100]
synonym: "congenital nongoitrous hypothyroidism 4" RELATED [DOID:0070123]
synonym: "hypothyroidism, congenital, nongoitrous 4" EXACT [OMIM:275100, OMIM:genemap2]
synonym: "hypothyroidism, congenital, nongoitrous, 4" RELATED [MONDO:Lexical, OMIM:275100]
synonym: "hypothyroidism, congenital, nongoitrous, type 4" EXACT [MONDORULE:1, OMIM:275100]
synonym: "isolated thyrotropin deficiency" EXACT [DOID:0070123, Orphanet:90674]
synonym: "isolated TSH deficiency" EXACT [Orphanet:90674]
synonym: "pituitary cretinism" RELATED DEPRECATED [OMIM:275100]
synonym: "thyroid-stimulating hormone deficiency" RELATED [OMIM:275100]
synonym: "thyroid-stimulating hormone, deficiency of" RELATED [GARD:0010129]
synonym: "thyrotropin deficiency, isolated" RELATED [OMIM:275100]
synonym: "thyrotropin, biologically inactive" RELATED [OMIM:275100]
synonym: "TSH deficiency" RELATED [OMIM:275100]
xref: DOID:0070123 {source="MONDO:equivalentTo"}
xref: GARD:10129 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="DOID:0070123", source="Orphanet:90674", source="Orphanet:90674/attributed", source="Orphanet:90674/ntbt"}
xref: MEDGEN:78786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:275100 {source="DOID:0070123", source="MONDO:equivalentTo", source="Orphanet:90674", source="Orphanet:90674/e"}
xref: Orphanet:90674 {source="MONDO:equivalentTo", source="OMIM:275100"}
xref: UMLS:C0271789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78786"}
is_a: MONDO:0000045 {source="DC-OMIM:275100", source="OMIM:275100"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0016410 {source="Orphanet:90674"} ! central congenital hypothyroidism
is_a: MONDO:0018612 {source="DOID:0070123", source="Orphanet:90674/inferred"} ! congenital hypothyroidism
is_a: MONDO:0019824 {source="Orphanet:90674"} ! non-acquired pituitary hormone deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12372 {source="MONDO:mim2gene_medgen"} ! TSHB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010140
name: isolated thyrotropin-releasing hormone deficiency
def: "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone." [NCIT:C121741]
subset: gard_rare {source="GARD:17179", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238670"}
subset: orphanet_rare {source="Orphanet:238670"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypothalamic hypothyroidism" RELATED [OMIM:275120]
synonym: "isolated prothyroliberin deficiency" EXACT [Orphanet:238670]
synonym: "isolated protirelin deficiency" EXACT [Orphanet:238670]
synonym: "isolated thyroliberin deficiency" EXACT [Orphanet:238670]
synonym: "isolated thyrotropin-releasing factor deficiency" EXACT [Orphanet:238670]
synonym: "isolated TRF deficiency" EXACT [Orphanet:238670]
synonym: "isolated TRH deficiency" EXACT [Orphanet:238670]
synonym: "isolated TSH-releasing factor deficiency" EXACT [Orphanet:238670]
synonym: "tertiary hypothyroidism" EXACT [NCIT:C121741]
synonym: "thyrotropin-releasing hormone deficiency" RELATED [OMIM:275120]
synonym: "TRH deficiency" RELATED [OMIM:275120]
xref: GARD:17179 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:238670/attributed", source="Orphanet:238670/ntbt", source="Orphanet:238670"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:113137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121741 {source="MONDO:equivalentTo"}
xref: OMIM:275120 {source="Orphanet:238670/e", source="MONDO:equivalentTo", source="Orphanet:238670"}
xref: Orphanet:238670 {source="MONDO:equivalentTo", source="OMIM:275120"}
xref: SCTID:10736002 {source="MONDO:equivalentTo"}
xref: UMLS:C0220998 {source="MEDGEN:113137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016410 {source="NCIT:C121741", source="Orphanet:238670"} ! central congenital hypothyroidism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12298 {source="MONDO:mim2gene_medgen"} ! TRH

[Term]
id: MONDO:0010141
name: tiglic acidemia
synonym: "disorder of isoleucine metabolism" RELATED [GARD:0009958]
synonym: "tiglic acidemia" EXACT [OMIM:275190]
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:376443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536921 {source="MONDO:equivalentTo"}
xref: OMIM:275190 {source="MONDO:equivalentTo"}
xref: SCTID:444755001 {source="MONDO:equivalentTo"}
xref: UMLS:C1848793 {source="MONDO:equivalentTo", source="MEDGEN:376443", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536921/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9958/tiglic-acidemia" xsd:anyURI {source="GARD:0009958"}

[Term]
id: MONDO:0010142
name: hypothyroidism due to TSH receptor mutations
def: "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." [Orphanet:90673]
subset: gard_rare {source="GARD:16793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90673"}
subset: orphanet_rare {source="Orphanet:90673"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHNG1" EXACT ABBREVIATION [DOID:0070126, MONDO:Lexical, OMIM:275200]
synonym: "congenital nongoitrous hypothyroidism 1" RELATED [DOID:0070126]
synonym: "hypothyroidism due to unresponsiveness to thyrotropin" RELATED [OMIM:275200]
synonym: "hypothyroidism, congenital, due to TSH resistance" RELATED [OMIM:275200]
synonym: "hypothyroidism, congenital, nongoitrous, 1" RELATED [MONDO:Lexical, OMIM:275200]
synonym: "hypothyroidism, congenital, nongoitrous, type 1" EXACT [MONDORULE:1, OMIM:275200]
synonym: "hypothyroidism, Nonautoimmune" RELATED [OMIM:275200]
synonym: "thyroid-stimulating hormone, resistance to" RELATED [OMIM:275200]
synonym: "thyrotropin resistance" RELATED [OMIM:275200]
synonym: "TSH resistance" EXACT [DOID:0070126]
xref: DOID:0070126 {source="MONDO:equivalentTo"}
xref: GARD:16793 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="DOID:0070126", source="Orphanet:90673", source="Orphanet:90673/attributed", source="Orphanet:90673/ntbt"}
xref: MEDGEN:487729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:275200 {source="DOID:0070126", source="MONDO:equivalentTo", source="Orphanet:90673", source="Orphanet:90673/e"}
xref: Orphanet:90673 {source="MONDO:equivalentTo", source="OMIM:275200"}
xref: UMLS:C3493776 {source="MEDGEN:487729", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000045 {source="DC-OMIM:275200", source="OMIM:275200"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0018612 {source="DOID:0070126", source="Orphanet:90673/inferred"} ! congenital hypothyroidism
relationship: disease_has_basis_in_disruption_of GO:0004879 ! nuclear receptor activity
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12373 {source="MONDO:mim2gene_medgen"} ! TSHR

[Term]
id: MONDO:0010143
name: obsolete lethal restrictive dermopathy
subset: clingen {source="MONDO:CLINGEN"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800042

[Term]
id: MONDO:0010144
name: tibial hemimelia
def: "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." [Orphanet:93322]
subset: gard_rare {source="GARD:8707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93322"}
subset: ordo_morphological_anomaly {source="Orphanet:93322"}
subset: orphanet_rare {source="Orphanet:93322"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absence of tibia" RELATED [GARD:0008707]
synonym: "bilateral absence of the tibia" RELATED [GARD:0008707]
synonym: "congenital absence of tibia" EXACT [Orphanet:93322]
synonym: "congenital aplasia and dysplasia of the tibia with intact fibula" EXACT [Orphanet:93322]
synonym: "congenital longitudinal deficiency of the tibia" EXACT [Orphanet:93322]
synonym: "Thm" RELATED [OMIM:275220]
synonym: "tibia, absence of" RELATED [OMIM:275220]
synonym: "tibial hemimelia" EXACT [OMIM:275220]
synonym: "tibial longitudinal meromelia" EXACT [Orphanet:93322]
xref: GARD:8707 {source="MONDO:GARD"}
xref: ICD10CM:Q72.5 {source="Orphanet:93322", source="Orphanet:93322/e", source="Orphanet:93322/specific"}
xref: icd11.foundation:1111258427 {source="Orphanet:93322", source="MONDO:equivalentTo"}
xref: MEDGEN:120551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535563 {source="MONDO:equivalentTo"}
xref: OMIM:275220 {source="Orphanet:93322", source="MONDO:equivalentTo", source="Orphanet:93322/e"}
xref: Orphanet:93322 {source="MONDO:equivalentTo", source="OMIM:275220"}
xref: SCTID:79177001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265633 {source="MEDGEN:120551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016240 {source="Orphanet:93322"} ! hemimelia
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010145
name: tibia, absence of, with congenital deafness
synonym: "tibia, absence of, with congenital deafness" EXACT [OMIM:275230]
xref: MEDGEN:336413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564764 {source="MONDO:equivalentTo"}
xref: OMIM:275230 {source="MONDO:equivalentTo"}
xref: UMLS:C1848758 {source="MEDGEN:336413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0010146
name: Kerion celsi
def: "A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy." [Orphanet:499]
subset: gard_rare {source="GARD:3109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:499"}
subset: orphanet_rare {source="Orphanet:499"}
subset: rare
synonym: "susceptibility to Tinea imbricata" RELATED [GARD:0003109]
synonym: "Tinea capitis profunda" RELATED [GARD:0003109]
synonym: "TINEA imbricata, susceptibility to" RELATED [OMIM:275240]
synonym: "trichophytia profunda barbae" RELATED [GARD:0003109]
synonym: "trichophytia profunda capitis" RELATED [GARD:0003109]
synonym: "Trichophyton infection" RELATED [GARD:0003109]
xref: GARD:3109 {source="MONDO:GARD"}
xref: ICD10CM:B35.0 {source="Orphanet:499", source="Orphanet:499/ntbt"}
xref: icd11.foundation:1449494917 {source="Orphanet:499", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:124446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536165 {source="Orphanet:499", source="Orphanet:499/e"}
xref: OMIM:275240 {source="MONDO:equivalentTo"}
xref: Orphanet:499 {source="MONDO:equivalentTo"}
xref: SCTID:19087001 {source="MONDO:equivalentTo"}
xref: UMLS:C0276742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124446"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi" xsd:anyURI {source="GARD:0003109"}

[Term]
id: MONDO:0010147
name: tongue, pigmented fungiform papillae of
synonym: "tongue, pigmented fungiform papillae of" EXACT [OMIM:275250]
xref: MEDGEN:336411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:275250 {source="MONDO:equivalentTo"}
xref: UMLS:C1848756 {source="MEDGEN:336411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010148
name: Mounier-Kuhn syndrome
def: "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections." [Orphanet:3347]
subset: gard_rare {source="GARD:3793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:3347"}
subset: ordo_disorder {source="Orphanet:3347"}
subset: orphanet_rare {source="Orphanet:3347"}
subset: rare
synonym: "congenital tracheobronchomegaly" EXACT [Orphanet:3347]
synonym: "idiopathic tracheobronchomegaly" EXACT [Orphanet:3347]
synonym: "Mounier Kuhn syndrome" RELATED [GARD:0003793]
synonym: "Mounier-Kuhn syndrome" EXACT [NCIT:C85196]
synonym: "Mounier-Kühn syndrome" RELATED [Orphanet:3347]
synonym: "tracheobronchomegaly" EXACT [OMIM:275300, Orphanet:3347]
xref: GARD:3793 {source="MONDO:GARD"}
xref: ICD10CM:J98.0 {source="Orphanet:3347/ntbt", source="Orphanet:3347"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10044316 {source="Orphanet:3347", source="Orphanet:3347/e"}
xref: MEDGEN:11871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014137 {source="Orphanet:3347", source="MONDO:equivalentTo", source="Orphanet:3347/e"}
xref: NCIT:C85196 {source="MONDO:equivalentTo"}
xref: OMIM:275300 {source="Orphanet:3347", source="MONDO:equivalentTo", source="Orphanet:3347/e"}
xref: Orphanet:3347 {source="MONDO:equivalentTo", source="OMIM:275300"}
xref: SCTID:57451009 {source="MONDO:equivalentTo"}
xref: UMLS:C0040587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11871"}
is_a: MONDO:0005087 {source="Orphanet:3347"} ! respiratory system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020000"} ! rare

[Term]
id: MONDO:0010149
name: transcobalamin II deficiency
def: "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." [Orphanet:859]
subset: gard_rare {source="GARD:12338", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:859"}
subset: orphanet_rare {source="Orphanet:859"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inherited deficiency of transcobalamin" EXACT [Orphanet:859]
synonym: "TC 2 deficiency" RELATED [OMIM:275350]
synonym: "TCN2 deficiency" EXACT [DOID:0050818]
synonym: "Tcn2 deficiency" RELATED [OMIM:275350]
synonym: "transcobalamin 2 deficiency" RELATED [OMIM:275350]
synonym: "transcobalamin deficiency" RELATED [Orphanet:859]
synonym: "transcobalamin II deficiency" EXACT CLINGEN_LABEL [OMIM:275350, Orphanet:859]
xref: DOID:0050818 {source="MONDO:equivalentTo"}
xref: GARD:12338 {source="MONDO:GARD"}
xref: ICD10CM:D51.2 {source="MONDO:equivalentTo", source="Orphanet:859", source="Orphanet:859/attributed", source="Orphanet:859/ntbt"}
xref: MEDGEN:137976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C142806 {source="MONDO:equivalentTo"}
xref: OMIM:275350 {source="MONDO:equivalentTo", source="Orphanet:859", source="DOID:0050818", source="Orphanet:859/e"}
xref: Orphanet:859 {source="OMIM:275350", source="MONDO:equivalentTo"}
xref: SCTID:237934001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137976"}
is_a: MONDO:0000424 {source="DOID:0050818", source="MONDO:Redundant", source="OMIM:275350"} ! inborn vitamin B12 deficiency
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0019220 {source="Orphanet:859"} ! inborn disorder of cobalamin metabolism and transport
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11653 {source="MONDO:mim2gene_medgen"} ! TCN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0010150
name: head and neck squamous cell carcinoma
def: "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." [NCIT:C34447]
subset: gard_rare {source="GARD:8503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of the head and neck" NARROW [DOID:5520, NCIT:C35850]
synonym: "craniocervical region squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "head and neck squamous cell carcinoma" EXACT [NCIT:C34447, Orphanet:67037]
synonym: "head and neck squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C34447]
synonym: "HNSCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:275355, Orphanet:67037]
synonym: "SCCHN" EXACT ABBREVIATION [NCIT:C34447]
synonym: "squamous cell carcinoma of head and neck" EXACT [NCIT:C34447]
synonym: "squamous cell carcinoma of the head and neck" EXACT [DOID:5520, NCIT:C34447]
synonym: "squamous cell carcinoma, head and neck" RELATED [MONDO:Lexical, OMIM:275355]
synonym: "squamous cell carcinoma, head and neck, somatic" EXACT [OMIM:275355, OMIM:genemap2]
synonym: "squamous cell carcinomas of head and neck" EXACT [DOID:5520]
xref: DOID:5520 {source="MONDO:equivalentTo", source="EFO:0000181"}
xref: EFO:0000181 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8503 {source="MONDO:GARD"}
xref: MedDRA:10060121 {source="Orphanet:67037/e", source="Orphanet:67037"}
xref: MEDGEN:257911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535575 {source="DOID:5520", source="Orphanet:67037/e", source="MONDO:equivalentTo", source="Orphanet:67037"}
xref: NCIT:C34447 {source="DOID:5520", source="MONDO:equivalentTo", source="EFO:0000181"}
xref: OMIM:275355 {source="DOID:5520", source="Orphanet:67037/e", source="MONDO:equivalentTo", source="EFO:0000181", source="Orphanet:67037"}
xref: ONCOTREE:HNSC {source="MONDO:equivalentTo"}
xref: Orphanet:67037 {source="MONDO:equivalentObsolete", source="OMIM:275355"}
xref: SCTID:716659002 {source="MONDO:equivalentTo"}
xref: UMLS:C1168401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:257911"}
is_a: MONDO:0002038 {source="DOID:5520", source="MONDO:Redundant", source="NCIT:C34447"} ! head and neck carcinoma
is_a: MONDO:0005096 {source="DOID:5520", source="EFO:0000181", source="MESH:C535575", source="MONDO:Redundant", source="NCIT:C34447"} ! squamous cell carcinoma
is_a: MONDO:0005586 {source="Orphanet:67037"} ! head and neck neoplasm
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0007811 ! craniocervical region
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017371"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010151
name: tricarboxylic acid cycle, defect of
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tricarboxylic acid cycle, defect of" EXACT [OMIM:275370]
xref: MEDGEN:376430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564762 {source="MONDO:equivalentTo"}
xref: OMIM:275370 {source="MONDO:equivalentTo"}
xref: UMLS:C1848746 {source="MEDGEN:376430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016790 ! tricarboxylic acid cycle disorder
relationship: disease_has_basis_in_disruption_of GO:0006099 ! tricarboxylic acid cycle

[Term]
id: MONDO:0010152
name: trichomegaly-retina pigmentary degeneration-dwarfism syndrome
def: "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability." [Orphanet:3363]
subset: gard_rare {source="GARD:5266", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3363"}
subset: ordo_malformation_syndrome {source="Orphanet:3363"}
subset: orphanet_rare {source="Orphanet:3363"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eyelashes, long with intellectual disability" RELATED [GARD:0005266]
synonym: "eyelashes, long, with intellectual disability" RELATED [OMIM:275400]
synonym: "eyelashes, long, with mental retardation" RELATED DEPRECATED [OMIM:275400]
synonym: "long eyelashes-intellectual disability syndrome" EXACT [Orphanet:3363]
synonym: "Oliver McFarlane syndrome" RELATED [GARD:0005266]
synonym: "Oliver-McFarlane syndrome" EXACT [MONDO:Lexical, OMIM:275400, Orphanet:3363]
synonym: "OMCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275400]
synonym: "trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina" RELATED [GARD:0005266]
synonym: "trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina" RELATED [OMIM:275400]
synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina" RELATED DEPRECATED [OMIM:275400]
xref: DOID:0111271 {source="MONDO:equivalentTo"}
xref: GARD:5266 {source="MONDO:GARD"}
xref: MEDGEN:338532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536554 {source="MONDO:equivalentTo"}
xref: OMIM:275400 {source="Orphanet:3363/e", source="MONDO:equivalentTo", source="Orphanet:3363"}
xref: Orphanet:3363 {source="MONDO:equivalentTo", source="OMIM:275400"}
xref: SCTID:719944006 {source="MONDO:equivalentTo"}
xref: UMLS:C1848745 {source="MEDGEN:338532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:3363"} ! ectodermal dysplasia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="MONDO:mim2gene_medgen"} ! PNPLA6

[Term]
id: MONDO:0010153
name: trichoodontoonychial dysplasia
def: "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983." [Orphanet:3355]
subset: gard_rare {source="GARD:5267", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3355"}
subset: ordo_malformation_syndrome {source="Orphanet:3355"}
subset: orphanet_rare {source="Orphanet:3355"}
subset: rare
synonym: "trichoodontoonychial dysplasia with bone deficiency" RELATED [OMIM:275450]
synonym: "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" EXACT [Orphanet:3355]
xref: GARD:5267 {source="MONDO:GARD"}
xref: MEDGEN:481087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564760 {source="MONDO:equivalentTo"}
xref: OMIM:275450 {source="Orphanet:3355", source="MONDO:equivalentTo", source="Orphanet:3355/e"}
xref: Orphanet:3355 {source="MONDO:equivalentTo", source="OMIM:275450"}
xref: SCTID:766813000 {source="MONDO:equivalentTo"}
xref: UMLS:C3279457 {source="MEDGEN:481087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C564760", source="Orphanet:3355"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia" xsd:anyURI {source="GARD:0005267"}

[Term]
id: MONDO:0010154
name: trigonocephaly-bifid nose-acral anomalies syndrome
def: "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." [Orphanet:3368]
subset: gard_rare {source="GARD:5126", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3368"}
subset: ordo_malformation_syndrome {source="Orphanet:3368"}
subset: orphanet_rare {source="Orphanet:3368"}
subset: rare
synonym: "trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia" RELATED [GARD:0005126]
synonym: "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" RELATED [OMIM:275595]
synonym: "trigonocephaly - bifid nose - acral anomalies" RELATED [GARD:0005126]
xref: GARD:5126 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3368/attributed", source="Orphanet:3368/ntbt", source="Orphanet:3368"}
xref: MEDGEN:341296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564759 {source="MONDO:equivalentTo"}
xref: OMIM:275595 {source="Orphanet:3368", source="MONDO:equivalentTo", source="Orphanet:3368/e"}
xref: Orphanet:3368 {source="MONDO:equivalentTo", source="OMIM:275595"}
xref: UMLS:C1848743 {source="MEDGEN:341296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3368"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:3368", source="Orphanet:3368/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0010155
name: Dorfman-Chanarin disease
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3979", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1283", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98907"}
subset: orphanet_rare {source="Orphanet:98907"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275630]
synonym: "Chanarin-Dorfman disease" RELATED [OMIM:275630]
synonym: "Chanarin-Dorfman Syndrome" EXACT [NORD:1283]
synonym: "Chanarin-Dorfman syndrome" EXACT [DOID:0050729, MONDO:Lexical, OMIM:275630]
synonym: "DCs" RELATED [GARD:0003979]
synonym: "disorder of cornification 12 (neutral lipid storage type)" RELATED [GARD:0003979]
synonym: "Dorfman Chanarin syndrome" RELATED [GARD:0003979]
synonym: "Dorfman-Chanarin syndrome" RELATED [OMIM:275630]
synonym: "ichthyosiform erythroderma with leukocyte vacuolation" RELATED [OMIM:275630]
synonym: "ichthyotic neutral Lipid storage disease" RELATED [OMIM:275630]
synonym: "neutral Lipid storage disease with ichthyosis" RELATED [OMIM:275630]
synonym: "neutral lipid storage disease with ichthyosis" EXACT [Orphanet:98907]
synonym: "neutral lipid storage disease with ichthyotic" RELATED [GARD:0003979]
synonym: "NLSDI" EXACT ABBREVIATION [Orphanet:98907]
synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" RELATED [OMIM:275630]
xref: GARD:3979 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="Orphanet:98907/attributed", source="Orphanet:98907/ntbt", source="Orphanet:98907"}
xref: MEDGEN:82780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200622 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200623 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200997 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1283 {source="MONDO:NORD"}
xref: OMIM:275630 {source="Orphanet:98907/e", source="MONDO:equivalentTo", source="Orphanet:98907", source="DOID:0050729"}
xref: Orphanet:98907 {source="MONDO:equivalentTo", source="OMIM:275630"}
xref: SCTID:19604005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82780"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015611 {source="Orphanet:98907", source="https://orcid.org/0000-0001-5208-3432"} ! neutral lipid storage disease
relationship: excluded_subClassOf MONDO:0017270 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal ichthyosis syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21396 {source="MONDO:mim2gene_medgen"} ! ABHD5

[Term]
id: MONDO:0010156
name: Troyer syndrome
def: "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin." [Orphanet:101000]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101000"}
subset: orphanet_rare {source="Orphanet:101000"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 20" EXACT [DOID:0050886]
synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT [DOID:0050886]
synonym: "autosomal recessive spastic paraplegia type 20" EXACT [DOID:0050886]
synonym: "childhood-onset spastic paraparesis with distal muscle wasting" EXACT [DOID:0050886]
synonym: "childhood-onset spastic paraparesis-distal muscle wasting syndrome" EXACT [Orphanet:101000]
synonym: "Cross-McKusick syndrome" RELATED [GARD:0005372]
synonym: "hereditary spastic paraplegia 20" EXACT [DOID:0050886]
synonym: "spastic paraparesis, childhood-onset, with distal muscle wasting" RELATED [OMIM:275900]
synonym: "spastic paraplegia 20" RELATED [GARD:0005372]
synonym: "spastic paraplegia 20 (Troyer syndrome)" EXACT [DOID:0050886]
synonym: "spastic paraplegia 20, autosomal recessive" RELATED [GARD:0005372, MONDO:Lexical, OMIM:275900]
synonym: "spastic paraplegia type 20" EXACT [DOID:0050886]
synonym: "spastic paraplegia, autosomal recessive, Troyer type" RELATED [OMIM:275900]
synonym: "SPG20" EXACT ABBREVIATION [DOID:0050886, MONDO:Lexical, OMIM:275900, Orphanet:101000]
synonym: "Troyer syndrome" EXACT [OMIM:275900, Orphanet:101000]
xref: DOID:0050886 {source="MONDO:equivalentTo"}
xref: GARD:5372 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:101000", source="Orphanet:101000/attributed", source="Orphanet:101000/ntbt", source="DOID:0050886"}
xref: ICD9:335.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536858 {source="MONDO:equivalentTo"}
xref: OMIM:275900 {source="Orphanet:101000", source="MONDO:equivalentTo", source="DOID:0050886", source="Orphanet:101000/e"}
xref: Orphanet:101000 {source="OMIM:275900", source="MONDO:equivalentTo", source="DOID:0050886"}
xref: SCTID:230264003 {source="MONDO:equivalentTo"}
xref: UMLS:C0393559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:97950"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0050886", source="MESH:C536858", source="MONDO:Redundant", source="OMIM:275900", source="Orphanet:101000/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18514 {source="MONDO:mim2gene_medgen"} ! SPART
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome" xsd:anyURI {source="GARD:0005372"}

[Term]
id: MONDO:0010157
name: Tryptophanuria with dwarfism
synonym: "Tryptophanuria with dwarfism" EXACT [OMIM:276100]
xref: ICD9:259.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562658 {source="MONDO:equivalentTo"}
xref: OMIM:276100 {source="MONDO:equivalentTo"}
xref: SCTID:12045002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268473 {source="MONDO:equivalentTo", source="MEDGEN:78680", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562658/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4268/tryptophanuria-with-dwarfism" xsd:anyURI {source="GARD:0004268"}

[Term]
id: MONDO:0010158
name: T-substance anomaly
synonym: "T-substance anomaly" EXACT [OMIM:276200]
xref: MEDGEN:338528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:276200 {source="MONDO:equivalentTo"}
xref: UMLS:C1848724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338528"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010159
name: mismatch repair cancer syndrome 1
def: "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:420", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1805", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain tumor-polyposis syndrome" RELATED [GARD:0000420]
synonym: "brain tumor-polyposis syndrome 1" EXACT [OMIM:276300]
synonym: "BTP1 syndrome" EXACT [OMIM:276300]
synonym: "childhood cancer syndrome" RELATED [OMIM:276300]
synonym: "CMMR-D" EXACT [NCIT:C130202]
synonym: "CMMR-D syndrome" EXACT [Orphanet:252202]
synonym: "CNS tumors with familial polyposis of the colon" RELATED [GARD:0000420]
synonym: "CNS tumours with familial polyposis of the colon" RELATED OMO:0003005 []
synonym: "constitutional MIS-match repair deficiency syndrome" EXACT [NCIT:C130202]
synonym: "constitutional mismatch repair deficiency syndrome" EXACT [NCIT:C130202, OMIM:276300]
synonym: "glioma-polyposis syndrome" RELATED [GARD:0000420]
synonym: "malignant tumors of the central nervous system associated with familial polyposis of the colon" RELATED [GARD:0000420]
synonym: "malignant tumours of the central nervous system associated with familial polyposis of the colon" RELATED OMO:0003005 []
synonym: "mismatch repair cancer syndrome" RELATED [MONDO:Lexical, OMIM:276300]
synonym: "mismatch repair cancer syndrome 1" EXACT CLINGEN_LABEL []
synonym: "mismatch repair deficiency" RELATED [OMIM:276300]
synonym: "MMR deficiency" RELATED [OMIM:276300]
synonym: "MMRCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276300]
synonym: "MMRCS1" EXACT ABBREVIATION [OMIM:276300]
synonym: "Turcot Syndrome" EXACT [NORD:1805]
synonym: "Turcot syndrome" RELATED [OMIM:276300]
xref: GARD:420 {source="MONDO:GARD"}
xref: MEDGEN:1748029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536928 {source="MONDO:equivalentTo"}
xref: NCIT:C130202 {source="MONDO:equivalentTo"}
xref: NORD:1805 {source="MONDO:NORD"}
xref: OMIM:276300 {source="MONDO:equivalentTo", source="Orphanet:252202", source="Orphanet:252202/e"}
xref: Orphanet:252202 {source="OMIM:276300"}
xref: Orphanet:99817 {source="OMIM:276300"}
xref: SCTID:61665008 {source="MONDO:equivalentTo"}
xref: UMLS:C5399763 {source="MONDO:equivalentTo", source="MEDGEN:1748029", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015356 {source="MESH:C536928", source="NCIT:C130202", source="Orphanet:252202"} ! hereditary neoplastic syndrome
is_a: MONDO:0031219 {source="https://orcid.org/0000-0001-5208-3432"} ! mismatch repair cancer syndrome
relationship: excluded_subClassOf MONDO:0018040 {source="Orphanet:252202", source="https://github.com/monarch-initiative/mondo/issues/1583", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
relationship: excluded_subClassOf MONDO:0021190 {source="https://github.com/monarch-initiative/mondo/issues/1583", source="https://orcid.org/0000-0001-5208-3432"} ! DNA repair disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7068" xsd:anyURI

[Term]
id: MONDO:0010160
name: tyrosinemia type II
def: "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." [Orphanet:28378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3105", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:28378"}
subset: orphanet_rare {source="Orphanet:28378"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratosis palmoplantaris with corneal dystrophy" RELATED [OMIM:276600]
synonym: "keratosis palmoplantaris-corneal dystrophy syndrome" EXACT [Orphanet:28378]
synonym: "oculocutaneous tyrosinemia" EXACT [DOID:0050725, Orphanet:28378]
synonym: "Oregon type tyrosinemia" RELATED [OMIM:276600]
synonym: "Richner Hanhart syndrome" RELATED [GARD:0003105]
synonym: "Richner-Hanhart syndrome" EXACT [DOID:0050725, OMIM:276600, Orphanet:28378]
synonym: "Tat deficiency" RELATED [OMIM:276600]
synonym: "tyrosine aminotransferase deficiency" RELATED [OMIM:276600]
synonym: "tyrosine transaminase deficiency" RELATED [OMIM:276600]
synonym: "tyrosinemia due to TAT deficiency" EXACT [Orphanet:28378]
synonym: "tyrosinemia due to tyrosine aminotransferase deficiency" EXACT [Orphanet:28378]
synonym: "tyrosinemia type 2" RELATED [GARD:0003105]
synonym: "tyrosinemia type II" EXACT CLINGEN_LABEL [Orphanet:28378]
synonym: "tyrosinemia, type 2" RELATED [OMIM:276600]
synonym: "tyrosinemia, type II" RELATED [MONDO:Lexical, OMIM:276600]
synonym: "Tyrosinosis oculocutaneous type" RELATED [GARD:0003105]
synonym: "Tyrosinosis, oculocutaneous type" RELATED [OMIM:276600]
synonym: "TYRSN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276600]
xref: DOID:0050725 {source="MONDO:equivalentTo"}
xref: GARD:3105 {source="MONDO:GARD"}
xref: ICD10CM:E70.2 {source="Orphanet:28378/inclusion", source="Orphanet:28378/ntbt", source="Orphanet:28378"}
xref: icd11.foundation:1900229795 {source="MONDO:equivalentTo", source="Orphanet:28378", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10069463 {source="Orphanet:28378/e", source="Orphanet:28378"}
xref: MEDGEN:75687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200789 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200469 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129032 {source="MONDO:equivalentTo"}
xref: OMIM:276600 {source="Orphanet:28378/e", source="MONDO:equivalentTo", source="DOID:0050725", source="Orphanet:28378"}
xref: Orphanet:28378 {source="MONDO:equivalentTo", source="OMIM:276600"}
xref: SCTID:4887000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268487 {source="MEDGEN:75687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004741 {source="DC-OMIM:276600", source="DOID:0050725", source="NCIT:C129032", source="OMIM:276600"} ! tyrosinemia
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0017672 {source="MONDO:0020097-obsoleted"} ! focal palmoplantar keratoderma
relationship: disease_has_feature HP:0000491 ! Keratitis
relationship: disease_has_feature HP:0000972 ! Palmoplantar hyperkeratosis
relationship: disease_has_feature HP:0001249 ! Intellectual disability
relationship: disease_has_feature HP:0003231 ! Hypertyrosinemia
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11573 {source="MONDO:mim2gene_medgen"} ! TAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2" xsd:anyURI {source="GARD:0003105"}

[Term]
id: MONDO:0010161
name: tyrosinemia type I
def: "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." [Orphanet:882]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1811"}
subset: ordo_disorder {source="Orphanet:882"}
subset: orphanet_rare {source="Orphanet:882"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FAH deficiency" EXACT [Orphanet:882]
synonym: "Fah deficiency" RELATED [OMIM:276700]
synonym: "fumarylacetoacetase deficiency" EXACT [OMIM:276700, Orphanet:882]
synonym: "fumarylacetoacetate hydrolase deficiency" EXACT [Orphanet:882]
synonym: "hepatorenal tyrosinemia" EXACT [DOID:0050726, OMIM:276700, Orphanet:882]
synonym: "type I tyrosinemia" EXACT [NCIT:C98641]
synonym: "Tyrosinemia Type 1" EXACT [NORD:1811]
synonym: "tyrosinemia type 1" RELATED [GARD:0002658]
synonym: "tyrosinemia type I" EXACT CLINGEN_LABEL [Orphanet:882]
synonym: "tyrosinemia, type 1" RELATED [OMIM:276700]
synonym: "tyrosinemia, type I" RELATED [MONDO:Lexical, OMIM:276700]
synonym: "TYRSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276700]
xref: DOID:0050726 {source="MONDO:equivalentTo"}
xref: GARD:2658 {source="MONDO:GARD"}
xref: ICD10CM:E70.2 {source="Orphanet:882/ntbt", source="Orphanet:882/inclusion", source="Orphanet:882"}
xref: icd11.foundation:2029519782 {source="MONDO:equivalentTo", source="Orphanet:882", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10069462 {source="Orphanet:882/e", source="Orphanet:882"}
xref: MEDGEN:75688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200788 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200468 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98641 {source="MONDO:equivalentTo"}
xref: NORD:1811 {source="MONDO:NORD"}
xref: OMIM:276700 {source="Orphanet:882/e", source="MONDO:equivalentTo", source="DOID:0050726", source="Orphanet:882"}
xref: Orphanet:882 {source="MONDO:equivalentTo", source="OMIM:276700"}
xref: SCTID:410056006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268490 {source="MEDGEN:75688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004741 {source="DC-OMIM:276700", source="DOID:0050726", source="NCIT:C98641", source="OMIM:276700"} ! tyrosinemia
is_a: MONDO:0005066 {source="Orphanet:882"} ! metabolic disease
relationship: disease_has_feature HP:0003231 ! Hypertyrosinemia
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:882", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3579 {source="MONDO:mim2gene_medgen"} ! FAH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1" xsd:anyURI {source="GARD:0002658"}

[Term]
id: MONDO:0010162
name: tyrosinemia type III
def: "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." [Orphanet:69723]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10332", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69723"}
subset: orphanet_rare {source="Orphanet:69723"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "4-alpha hydroxyphenylpyruvate dioxygenase deficiency" RELATED [GARD:0010332]
synonym: "4-alpha hydroxyphenylpyruvic acid oxidase deficiency" RELATED [GARD:0010332]
synonym: "4-Hydroxyphenylpyruvate dioxygenase deficiency" RELATED [OMIM:276710]
synonym: "4-Hydroxyphenylpyruvic acid oxidase deficiency" RELATED [OMIM:276710]
synonym: "tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency" EXACT [Orphanet:69723]
synonym: "tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency" EXACT [Orphanet:69723]
synonym: "tyrosinemia due to HPD deficiency" EXACT [Orphanet:69723]
synonym: "tyrosinemia type 3" RELATED [GARD:0010332]
synonym: "tyrosinemia type III" EXACT CLINGEN_LABEL [Orphanet:69723]
synonym: "tyrosinemia, type 3" RELATED [OMIM:276710]
synonym: "tyrosinemia, type III" RELATED [MONDO:Lexical, OMIM:276710]
synonym: "TYRSN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276710]
xref: DOID:0050727 {source="MONDO:equivalentTo"}
xref: GARD:10332 {source="MONDO:GARD"}
xref: ICD10CM:E70.2 {source="Orphanet:69723", source="Orphanet:69723/attributed", source="Orphanet:69723/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069461 {source="Orphanet:69723", source="Orphanet:69723/e"}
xref: MEDGEN:78694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200790 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200470 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:276710 {source="Orphanet:69723", source="MONDO:equivalentTo", source="Orphanet:69723/e", source="DOID:0050727"}
xref: Orphanet:69723 {source="MONDO:equivalentTo", source="OMIM:276710"}
xref: SCTID:415764005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78694"}
is_a: MONDO:0004741 {source="DC-OMIM:276710", source="DOID:0050727", source="OMIM:276710"} ! tyrosinemia
relationship: disease_has_feature HP:0003231 ! Hypertyrosinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5147 {source="MONDO:mim2gene_medgen"} ! HPD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3" xsd:anyURI {source="GARD:0010332"}

[Term]
id: MONDO:0010163
name: Tyrosinosis
synonym: "Tyrosinosis" EXACT [OMIM:276800]
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562659 {source="MONDO:equivalentTo"}
xref: OMIM:276800 {source="MONDO:equivalentTo"}
xref: SCTID:57414003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78683"}
is_a: MONDO:0003847 {source="MESH:C562659/inferred"} ! hereditary disease

[Term]
id: MONDO:0010164
name: phocomelia, Schinzel type
def: "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." [Orphanet:2879]
subset: gard_rare {source="GARD:9212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2879"}
subset: ordo_malformation_syndrome {source="Orphanet:2879"}
subset: orphanet_rare {source="Orphanet:2879"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AARRS" RELATED ABBREVIATION [GARD:0009212]
synonym: "absence of ulna and fibula with severe limb deficiency" RELATED [GARD:0009212]
synonym: "Al Awadi Teebi Farag syndrome" RELATED [GARD:0005124]
synonym: "Al Awadi-Raas-Rothschild syndrome" EXACT [Orphanet:2879]
synonym: "Al-Awadi-Raas-Rothschild syndrome" RELATED [GARD:0009212]
synonym: "Al-Awadi/Raas-Rothschild syndrome" RELATED [OMIM:276820]
synonym: "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" RELATED [GARD:0009212]
synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT [Orphanet:2879]
synonym: "congenital absence of ulna and fibula" EXACT [Orphanet:2879]
synonym: "limb/pelvis-hypoplasia/aplasia syndrome" RELATED [OMIM:276820]
synonym: "profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence" RELATED [GARD:0005124]
synonym: "Schinzel phocomelia syndrome" RELATED [OMIM:276820]
synonym: "severe limb deficit" EXACT [Orphanet:2879]
synonym: "Teebi Naguib Al Awadi syndrome" RELATED [GARD:0005124]
synonym: "ulna and fibula absence of with severe limb deficiency" RELATED [GARD:0009212]
synonym: "ulna and fibula, absence of, with severe limb deficiency" RELATED [OMIM:276820]
xref: DOID:0112181 {source="MONDO:equivalentTo"}
xref: GARD:9212 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2879/attributed", source="Orphanet:2879/ntbt", source="Orphanet:2879"}
xref: MEDGEN:336388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535612 {source="MONDO:equivalentTo"}
xref: OMIM:276820 {source="Orphanet:2879/e", source="MONDO:equivalentTo", source="Orphanet:2879", source="GARD:0005124"}
xref: Orphanet:2879 {source="MONDO:equivalentTo", source="OMIM:276820"}
xref: SCTID:715522000 {source="MONDO:equivalentTo"}
xref: UMLS:C1848651 {source="MEDGEN:336388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12786 {source="MONDO:mim2gene_medgen"} ! WNT7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010165
name: ulna hypoplasia-intellectual disability syndrome
def: "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." [Orphanet:2249]
subset: gard_rare {source="GARD:5398", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2249"}
subset: ordo_malformation_syndrome {source="Orphanet:2249"}
subset: orphanet_rare {source="Orphanet:2249"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral ulnar hypoplasia and intellectual disability" RELATED [GARD:0005398]
synonym: "bilateral ulnar hypoplasia and mental retardation" RELATED DEPRECATED [GARD:0005398]
synonym: "mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability" RELATED [GARD:0005398]
synonym: "mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation" RELATED DEPRECATED [GARD:0005398]
synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability" RELATED [OMIM:276821]
synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation" RELATED DEPRECATED [OMIM:276821]
synonym: "ulna hypoplasia with intellectual disability" RELATED [GARD:0005398]
synonym: "ulna hypoplasia with mental retardation" RELATED DEPRECATED [GARD:0005398]
synonym: "ulnar hypoplasia with intellectual disability" RELATED [OMIM:276821]
synonym: "ulnar hypoplasia with mental retardation" RELATED DEPRECATED [OMIM:276821]
xref: GARD:5398 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2249", source="Orphanet:2249/attributed", source="Orphanet:2249/ntbt"}
xref: MEDGEN:341275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536934 {source="Orphanet:2249", source="Orphanet:2249/e"}
xref: MESH:C564757 {source="MONDO:equivalentTo"}
xref: OMIM:276821 {source="MONDO:equivalentTo", source="Orphanet:2249", source="Orphanet:2249/e"}
xref: Orphanet:2249 {source="MONDO:equivalentTo", source="OMIM:276821"}
xref: UMLS:C1848650 {source="MEDGEN:341275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010166
name: ulnar agenesis and endocardial fibroelastosis
synonym: "ulnar agenesis and endocardial fibroelastosis" EXACT [OMIM:276822]
xref: MEDGEN:336387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564756 {source="MONDO:equivalentTo"}
xref: OMIM:276822 {source="MONDO:equivalentTo"}
xref: UMLS:C1848649 {source="MEDGEN:336387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010167
name: urocanic aciduria
def: "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." [Orphanet:210128]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8539", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210128"}
subset: orphanet_rare {source="Orphanet:210128"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy due to urocanase deficiency" EXACT [Orphanet:210128]
synonym: "urocanase deficiency" RELATED [MONDO:Lexical, OMIM:276880]
synonym: "urocanic aciduria" EXACT CLINGEN_LABEL [MONDO:ambiguous]
synonym: "urocanic aciduria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "UROCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276880]
xref: DOID:0112180 {source="MONDO:equivalentTo"}
xref: GARD:8539 {source="MONDO:GARD"}
xref: HP:0012237 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E70.8 {source="Orphanet:210128", source="Orphanet:210128/attributed", source="Orphanet:210128/ntbt"}
xref: icd11.foundation:61773927 {source="MONDO:equivalentTo", source="Orphanet:210128"}
xref: MEDGEN:120644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536479 {source="MONDO:equivalentTo"}
xref: OMIM:276880 {source="MONDO:equivalentTo", source="Orphanet:210128", source="Orphanet:210128/e"}
xref: Orphanet:210128 {source="MONDO:equivalentTo", source="OMIM:276880"}
xref: SCTID:60952007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120644"}
is_a: MONDO:0019228 {source="Orphanet:210128", source="PMID:33340416"} ! inborn disorder of histidine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26444 {source="MONDO:mim2gene_medgen"} ! UROC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000589 "urocanic aciduria (disease)" xsd:string

[Term]
id: MONDO:0010168
name: Usher syndrome type 1
def: "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." [NCIT:C126327]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "retinitis pigmentosa and congenital deafness" EXACT [OMIM:276900]
synonym: "US1" EXACT ABBREVIATION [DOID:0110826, OMIM:276900]
synonym: "USH1" EXACT ABBREVIATION [DOID:0110826, MONDO:Lexical, OMIM:276900, Orphanet:231169]
synonym: "USH1A" RELATED ABBREVIATION [GARD:0005435]
synonym: "Usher syndrome type 1" EXACT CLINGEN_LABEL []
synonym: "Usher syndrome, type 1" EXACT [GARD:0005435, OMIM:276900]
synonym: "Usher syndrome, type 1A" RELATED [GARD:0005435]
synonym: "Usher syndrome, type 1B" RELATED [OMIM:276900]
synonym: "USHER syndrome, type I" RELATED [MONDO:Lexical, OMIM:276900]
synonym: "Usher syndrome, type I, French variety" RELATED [OMIM:276900]
synonym: "Usher syndrome, type I, French variety, formerly" RELATED [OMIM:276900]
synonym: "Usher syndrome, type Ia" RELATED [OMIM:276900]
synonym: "Usher syndrome, type Ia, formerly" RELATED [OMIM:276900]
xref: DOID:0110826 {source="MONDO:equivalentTo"}
xref: GARD:5435 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110826", source="Orphanet:231169", source="Orphanet:231169/attributed", source="Orphanet:231169/ntbt"}
xref: MEDGEN:292820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200942 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126327 {source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="DOID:0110826", source="MONDO:equivalentTo", source="OMIM:276900"}
xref: Orphanet:886 {source="OMIM:276900"}
xref: SCTID:232057003 {source="MONDO:equivalentTo"}
xref: UMLS:C1568247 {source="MEDGEN:292820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019501 {source="DC-OMIM:276900", source="DOID:0110826", source="NCIT:C126327", source="OMIM:276900", source="Orphanet:231169"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:276900", source="Orphanet:231169"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0010169
name: Usher syndrome type 2A
def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15241", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "retinal disease in usher syndrome type IIA, modifier of" EXACT [OMIM:276901, OMIM:genemap2]
synonym: "US2" RELATED ABBREVIATION [GARD:0005440]
synonym: "USH2A" EXACT ABBREVIATION [DOID:0110838, MONDO:Lexical, OMIM:276901]
synonym: "USH2A Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Usher syndrome caused by mutation in USH2A" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type 2A" EXACT CLINGEN_LABEL []
synonym: "Usher syndrome type IIA" EXACT [DOID:0110838]
synonym: "Usher syndrome, type 2A" RELATED [OMIM:276901]
synonym: "USHER syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:276901]
xref: DOID:0110838 {source="MONDO:equivalentTo"}
xref: GARD:15241 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110838"}
xref: MEDGEN:338513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536490 {source="MONDO:equivalentTo"}
xref: OMIM:276901 {source="MONDO:equivalentTo", source="DOID:0110838"}
xref: Orphanet:231178 {source="OMIM:276901"}
xref: Orphanet:886 {source="OMIM:276901"}
xref: UMLS:C1848634 {source="MEDGEN:338513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016484 {source="DOID:0110838"} ! Usher syndrome type 2
is_a: MONDO:0019501 {source="DOID:0110838/inferred", source="MESH:C536490", source="MONDO:Redundant", source="OMIM:276901"} ! Usher syndrome
intersection_of: MONDO:0019501 ! Usher syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12601 ! USH2A
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:276901"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12601 {source="MONDO:mim2gene_medgen"} ! USH2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010170
name: Usher syndrome type 3A
def: "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15242", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CLRN1 Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "USH3A" EXACT ABBREVIATION [DOID:0110841, MONDO:Lexical, OMIM:276902]
synonym: "Usher syndrome caused by mutation in CLRN1" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type 3A" EXACT CLINGEN_LABEL []
synonym: "Usher syndrome type IIIA" EXACT [DOID:0110841]
synonym: "Usher syndrome, type 3" RELATED [OMIM:276902]
synonym: "Usher syndrome, type 3A" RELATED [OMIM:276902]
synonym: "USHER syndrome, type IIIA" RELATED [MONDO:Lexical, OMIM:276902]
xref: DOID:0110841 {source="MONDO:equivalentTo"}
xref: GARD:15242 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110841", source="MONDO:relatedTo"}
xref: MEDGEN:1830415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:276902 {source="DOID:0110841", source="MONDO:equivalentTo"}
xref: Orphanet:231183 {source="OMIM:276902"}
xref: Orphanet:886 {source="OMIM:276902"}
xref: UMLS:C5779850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830415"}
is_a: MONDO:0016485 {source="DOID:0110841"} ! Usher syndrome type 3
is_a: MONDO:0019501 {source="DOID:0110841/inferred", source="MONDO:Redundant", source="OMIM:276902"} ! Usher syndrome
intersection_of: MONDO:0019501 ! Usher syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12605 ! CLRN1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:276902"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12605 {source="MONDO:mim2gene_medgen"} ! CLRN1

[Term]
id: MONDO:0010171
name: Usher syndrome type 1C
def: "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner." [OMIM:276904]
subset: gard_rare {source="GARD:5437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "USH1C" EXACT ABBREVIATION [DOID:0110830, MONDO:Lexical, OMIM:276904]
synonym: "Usher syndrome type 1C" EXACT CLINGEN_LABEL []
synonym: "Usher syndrome type I Acadian variety" EXACT [DOID:0110830]
synonym: "Usher syndrome type IC" EXACT [DOID:0110830]
synonym: "Usher syndrome, Acadian variety" RELATED [GARD:0005437]
synonym: "Usher syndrome, type 1C" RELATED [GARD:0005437]
synonym: "Usher syndrome, type I, Acadian variety" RELATED [OMIM:276904]
synonym: "USHER syndrome, type IC" RELATED [MONDO:Lexical, OMIM:276904]
xref: DOID:0110830 {source="MONDO:equivalentTo"}
xref: GARD:5437 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110830", source="MONDO:relatedTo"}
xref: MEDGEN:338506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:276904 {source="DOID:0110830", source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="OMIM:276904"}
xref: Orphanet:886 {source="OMIM:276904"}
xref: UMLS:C1848604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338506"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
is_a: MONDO:0019501 {source="DOID:0110830/inferred", source="MONDO:Redundant", source="OMIM:276904"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:276904"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12597 {source="MONDO:mim2gene_medgen"} ! USH1C
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c" xsd:anyURI {source="GARD:0005437"}

[Term]
id: MONDO:0010172
name: VACTERL with hydrocephalus
def: "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." [Orphanet:3412]
subset: gard_rare {source="GARD:272", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3412"}
subset: ordo_malformation_syndrome {source="Orphanet:3412"}
subset: orphanet_rare {source="Orphanet:3412"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sujansky-Leonard syndrome" EXACT [Orphanet:3412]
synonym: "VACTERL association with hydrocephalus" RELATED [OMIM:276950]
synonym: "VACTERL association with hydrocephaly" RELATED [GARD:0000272]
synonym: "VACTERL hydrocephaly" RELATED [GARD:0000272]
synonym: "VACTERL-H" RELATED [OMIM:276950]
synonym: "Vater association with hydrocephalus" RELATED [OMIM:276950]
synonym: "Vater association with macrocephaly and ventriculomegaly" RELATED [OMIM:276950]
synonym: "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly" RELATED [GARD:0000272]
xref: GARD:272 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3412/attributed", source="Orphanet:3412/ntbt", source="Orphanet:3412"}
xref: MEDGEN:376400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:276950 {source="Orphanet:3412", source="MONDO:equivalentTo", source="Orphanet:3412/e"}
xref: Orphanet:3412 {source="MONDO:equivalentTo", source="OMIM:276950"}
xref: UMLS:C1848599 {source="MEDGEN:376400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0008642 ! VACTERL/vater association
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:3412", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:3412", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:3412", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN

[Term]
id: MONDO:0010173
name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1
def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." [Orphanet:247775]
subset: gard_rare {source="GARD:4737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247775"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital absence of the uterus and vagina (CAUV)" RELATED [GARD:0007100]
synonym: "congenital absence of uterus and vagina" EXACT [GARD:0007100, OMIM:277000, Orphanet:247775]
synonym: "genital renal ear syndrome" RELATED [GARD:0007100]
synonym: "Mayer-Rokitansky-KUSTER-Hauser syndrome" RELATED [OMIM:277000]
synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)" RELATED [GARD:0007100]
synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 1" RELATED [Orphanet:247775]
synonym: "Mrk anomaly" RELATED [OMIM:277000]
synonym: "MRKH anomaly" RELATED [OMIM:277000]
synonym: "MRKH syndrome" RELATED [GARD:0007100, OMIM:277000]
synonym: "MRKH syndrome type 1" EXACT [Orphanet:247775]
synonym: "Mullerian aplasia/dysgenesis" RELATED [OMIM:277000]
synonym: "Mullerian dysgenesis" RELATED [GARD:0007100]
synonym: "Müllerian agenesis" RELATED [GARD:0007100]
synonym: "Rokitansky sequence" EXACT [Orphanet:247775]
synonym: "Rokitansky syndrome" RELATED [GARD:0007100]
synonym: "urogenital adysplasia" RELATED [OMIM:277000]
synonym: "uterus Bipartitus solidus Rudimentarius cum vagina Solida" RELATED [OMIM:277000]
synonym: "Von Mayer-Rokitansky-Kuster anomaly" RELATED [OMIM:277000]
xref: DOID:0112178 {source="MONDO:equivalentTo"}
xref: GARD:4737 {source="MONDO:GARD"}
xref: ICD10CM:Q51.8 {source="Orphanet:247775/attributed", source="Orphanet:247775/ntbt", source="Orphanet:247775"}
xref: ICD9:752.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:277000 {source="Orphanet:247775", source="MONDO:equivalentTo", source="Orphanet:247775/e", source="GARD:0007100"}
xref: Orphanet:247775 {source="OMIM:277000", source="MONDO:equivalentTo"}
xref: Orphanet:3109 {source="OMIM:277000"}
xref: UMLS:C0431648 {source="MEDGEN:140915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017771 {source="Orphanet:247775"} ! Mayer-Rokitansky-Kuster-Hauser syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia" xsd:anyURI {source="GARD:0007100"}

[Term]
id: MONDO:0010174
name: Valinemia
def: "Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal." [https://rarediseases.info.nih.gov/diseases/7845/valinemia]
synonym: "hypervalinemia" RELATED [OMIM:277100]
synonym: "valine transaminase deficiency" RELATED [OMIM:277100]
synonym: "Valinemia" EXACT [OMIM:277100]
xref: MEDGEN:120652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536524 {source="MONDO:equivalentTo"}
xref: OMIM:277100 {source="MONDO:equivalentTo"}
xref: SCTID:47719001 {source="MONDO:equivalentTo"}
xref: UMLS:C0268573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120652"}
is_a: MONDO:0003847 {source="MESH:C536524/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7845/valinemia" xsd:anyURI {source="GARD:0007845"}

[Term]
id: MONDO:0010175
name: van Bogaert-Hozay syndrome
synonym: "A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects" RELATED [GARD:0008415]
synonym: "A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects" RELATED DEPRECATED [GARD:0008415]
synonym: "acro-osteolysis-facial dysplasia syndrome" RELATED [GARD:0008415]
synonym: "Hozay's syndrome" RELATED [GARD:0008415]
synonym: "Hozay’s syndrome" RELATED [GARD:0008415]
synonym: "van Bogaert-Hozay syndrome" EXACT [OMIM:277150]
xref: MEDGEN:341263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536526 {source="MONDO:equivalentTo"}
xref: OMIM:277150 {source="MONDO:equivalentTo"}
xref: UMLS:C1848598 {source="MEDGEN:341263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8415/van-bogaert-hozay-syndrome" xsd:anyURI {source="GARD:0008415"}

[Term]
id: MONDO:0010176
name: orofaciodigital syndrome type 6
def: "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." [Orphanet:2754]
subset: gard_rare {source="GARD:4412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2754"}
subset: orphanet_rare {source="Orphanet:2754"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Joubert syndrome with oral-facial-digital syndrome" EXACT [Orphanet:2754]
synonym: "Joubert syndrome with orofaciodigital defect" EXACT [GARD:0004412]
synonym: "OFD6" EXACT ABBREVIATION [DOID:0060376, Orphanet:2754]
synonym: "Ofds 6" RELATED [OMIM:277170]
synonym: "oral-facial-digital syndrome type 6" EXACT [Orphanet:2754]
synonym: "oral-Facial-digital syndrome, type 6" RELATED [OMIM:277170]
synonym: "orofaciodigital syndrome 6" RELATED [OMIM:277170]
synonym: "orofaciodigital syndrome type 6" EXACT [MONDORULE:1, OMIM:277170, Orphanet:2754]
synonym: "orofaciodigital syndrome VI" EXACT [DOID:0060376, MONDO:Lexical, OMIM:277170]
synonym: "polydactyly - cleft lip/palate - psychomotor retardation" RELATED [GARD:0004412]
synonym: "polydactyly cleft lip palate psychomotor retardation" RELATED [GARD:0004412]
synonym: "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation" RELATED [OMIM:277170]
synonym: "polydactyly-cleft lip/palate-psychomotor retardation syndrome" EXACT [Orphanet:2754]
synonym: "Varadi syndrome" EXACT [DOID:0060376, OMIM:277170]
synonym: "Varadi-Papp syndrome" EXACT [DOID:0060376, OMIM:277170]
synonym: "Váradi syndrome" RELATED [GARD:0004412]
synonym: "Váradi-Papp syndrome" RELATED [GARD:0004412]
xref: DOID:0060376 {source="MONDO:equivalentTo"}
xref: GARD:4412 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:2754", source="Orphanet:2754/attributed", source="Orphanet:2754/ntbt"}
xref: MEDGEN:411200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536531 {source="DOID:0060376", source="MONDO:equivalentTo"}
xref: NCIT:C124841 {source="MONDO:equivalentTo"}
xref: OMIM:277170 {source="DOID:0060376", source="MONDO:equivalentTo", source="Orphanet:2754", source="Orphanet:2754/e"}
xref: Orphanet:2754 {source="DOID:0060376", source="GARD:0004412", source="MONDO:equivalentTo", source="OMIM:277170"}
xref: SCTID:721873007 {source="MONDO:equivalentTo"}
xref: UMLS:C2745997 {source="MEDGEN:411200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124841"} ! syndromic disease
is_a: MONDO:0015375 {source="DC-OMIM:277170", source="MESH:C536531", source="Orphanet:2754"} ! orofaciodigital syndrome
is_a: MONDO:0018772 {source="DOID:0060376"} ! Joubert syndrome
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2754", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25801 {source="MONDO:mim2gene_medgen"} ! CPLANE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation" xsd:anyURI {source="GARD:0004412"}

[Term]
id: MONDO:0010177
name: vascular hyalinosis
def: "A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage." [Orphanet:3018]
subset: gard_rare {source="GARD:4635", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3018"}
subset: ordo_malformation_syndrome {source="Orphanet:3018"}
subset: orphanet_rare {source="Orphanet:3018"}
subset: rare
synonym: "digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischaemic syndrome and phenotypic a" RELATED OMO:0003005 []
synonym: "digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a" RELATED [GARD:0004635]
synonym: "Rambaud-Gallian syndrome" EXACT [Orphanet:3018]
synonym: "Rambaud-Gallian-Touchard syndrome" EXACT [Orphanet:3018]
synonym: "retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" EXACT OMO:0003005 []
synonym: "retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" EXACT [Orphanet:3018]
synonym: "vascular hyalinosis" EXACT [OMIM:277175]
xref: GARD:4635 {source="MONDO:GARD"}
xref: ICD10CM:E78.8 {source="Orphanet:3018", source="Orphanet:3018/ntbt"}
xref: MEDGEN:376398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535283 {source="Orphanet:3018", source="Orphanet:3018/e"}
xref: MESH:C564750 {source="MONDO:equivalentTo"}
xref: OMIM:277175 {source="MONDO:equivalentTo", source="Orphanet:3018", source="Orphanet:3018/e"}
xref: Orphanet:3018 {source="OMIM:277175", source="MONDO:equivalentTo"}
xref: UMLS:C1848590 {source="MEDGEN:376398", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564750/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3607" xsd:anyURI

[Term]
id: MONDO:0010178
name: congenital bilateral aplasia of vas deferens from CFTR mutation
def: "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." [NCIT:C129303]
subset: gard_rare {source="GARD:15243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAVD" RELATED ABBREVIATION [OMIM:277180]
synonym: "CBAVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277180]
synonym: "congenital bilateral absence of vas deferens" BROAD [OMIM:277180, OMIM:genemap2]
synonym: "congenital bilateral aplasia of the vas deferens" BROAD [NCIT:C129303]
synonym: "vas deferens, congenital bilateral aplasia of" BROAD [MONDO:Lexical, OMIM:277180]
xref: DOID:0111864 {source="MONDO:equivalentTo"}
xref: GARD:15243 {source="MONDO:GARD"}
xref: MEDGEN:98021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129303 {source="MONDO:equivalentTo"}
xref: OMIM:277180 {source="MONDO:equivalentTo"}
xref: Orphanet:48 {source="OMIM:277180"}
xref: UMLS:C0403814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98021"}
is_a: MONDO:0018801 {source="OMIM:277180", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1884 {source="MONDO:mim2gene_medgen"} ! CFTR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010179
name: isolated right ventricular hypoplasia
def: "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy." [Orphanet:439]
subset: gard_rare {source="GARD:4721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439"}
subset: ordo_morphological_anomaly {source="Orphanet:439"}
subset: orphanet_rare {source="Orphanet:439"}
subset: rare
synonym: "hypoplasia of the right ventricle" RELATED [GARD:0004721]
synonym: "Irvh" RELATED [OMIM:277200]
synonym: "isolated hypoplasia of the right ventricle" RELATED [GARD:0004721]
synonym: "right ventricle hypoplasia" RELATED [GARD:0004721]
synonym: "right ventricular hypoplasia" RELATED [GARD:0004721]
synonym: "right ventricular hypoplasia, isolated" RELATED [OMIM:277200]
xref: GARD:4721 {source="MONDO:GARD"}
xref: ICD10CM:Q22.6 {source="Orphanet:439", source="Orphanet:439/ntbt"}
xref: MEDGEN:336377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535682 {source="MONDO:equivalentTo"}
xref: OMIM:277200 {source="MONDO:equivalentTo", source="Orphanet:439", source="Orphanet:439/e"}
xref: Orphanet:439 {source="MONDO:equivalentTo", source="OMIM:277200"}
xref: SCTID:718135001 {source="MONDO:equivalentTo"}
xref: UMLS:C1848587 {source="MEDGEN:336377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0020291 {source="Orphanet:439"} ! hypoplastic right heart syndrome

[Term]
id: MONDO:0010180
name: autosomal recessive spondylocostal dysostosis
def: "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." [Orphanet:2311]
subset: gard_rare {source="GARD:6798", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2311"}
subset: ordo_malformation_syndrome {source="Orphanet:2311"}
subset: orphanet_rare {source="Orphanet:2311"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "costovertebral dysplasia" RELATED [OMIM:277300]
synonym: "Jarcho-Levin syndrome" EXACT [Orphanet:2311]
synonym: "SCDO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277300]
synonym: "spondylocostal dysostosis 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:277300]
synonym: "spondylocostal dysostosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:6798 {source="MONDO:GARD"}
xref: ICD10CM:Q76.8 {source="Orphanet:2311", source="Orphanet:2311/attributed", source="Orphanet:2311/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C535781 {source="Orphanet:2311", source="MONDO:equivalentTo", source="Orphanet:2311/e"}
xref: MESH:C537565 {source="Orphanet:2311", source="Orphanet:2311/e"}
xref: Orphanet:2311 {source="MONDO:equivalentTo", source="OMIM:277300"}
xref: SCTID:61367005 {source="MONDO:equivalentTo"}
is_a: MONDO:0000359 {source="DC-OMIM:277300", source="MONDO:Redundant", source="OMIM:277300"} ! spondylocostal dysostosis
is_a: MONDO:0017747 {source="Orphanet:2311"} ! disorder of fucoglycosan synthesis
intersection_of: MONDO:0000359 ! spondylocostal dysostosis
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0010181
name: oculogastrointestinal muscular dystrophy
def: "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." [Orphanet:1876]
subset: gard_rare {source="GARD:5496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1876"}
subset: orphanet_rare {source="Orphanet:1876"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial visceral myopathy with external ophthalmoplegia" RELATED [GARD:0005496]
synonym: "intestinal pseudoobstruction with external ophthalmoplegia" RELATED [OMIM:277320]
synonym: "muscular dystrophy, oculogastrointestinal" RELATED [OMIM:277320]
synonym: "visceral myopathy - familial external ophthalmoplegia" RELATED [GARD:0005496]
synonym: "visceral myopathy, familial, with external ophthalmoplegia" RELATED [OMIM:277320]
synonym: "visceral myopathy-familial external ophthalmoplegia syndrome" EXACT [Orphanet:1876]
xref: GARD:5496 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:1876", source="Orphanet:1876/attributed", source="Orphanet:1876/ntbt"}
xref: MEDGEN:336376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536350 {source="Orphanet:1876", source="Orphanet:1876/e"}
xref: OMIM:277320 {source="MONDO:equivalentTo", source="Orphanet:1876", source="Orphanet:1876/e"}
xref: Orphanet:1876 {source="MONDO:equivalentTo", source="OMIM:277320"}
xref: SCTID:722060007 {source="MONDO:equivalentTo"}
xref: UMLS:C1848586 {source="MEDGEN:336376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021189 {source="Orphanet:1876"} ! intestinal motility disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0010182
name: hypercarotenemia and vitamin A deficiency, autosomal recessive
subset: gard_rare {source="GARD:18302", source="MONDO:GARD"}
subset: rare
synonym: "hypercarotenemia and vitamin A deficiency, autosomal recessive" EXACT [OMIM:277350]
xref: GARD:18302 {source="MONDO:GARD"}
xref: MEDGEN:395578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567486 {source="MONDO:equivalentTo"}
xref: OMIM:277350 {source="MONDO:equivalentTo"}
xref: Orphanet:199285 {source="OMIM:277350"}
xref: UMLS:C2678266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395578"}
is_a: MONDO:0007272 {source="Orphanet:199285/btnt"} ! hereditary hypercarotenemia and vitamin A deficiency

[Term]
id: MONDO:0010183
name: methylmalonic aciduria and homocystinuria type cblF
def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." [Orphanet:79284]
comment: Editor note: TODO - relevant annotation from GO
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cblF defect" EXACT [Orphanet:79284]
synonym: "cblF methylmalonic acidemia and homocystinuria" RELATED []
synonym: "cobalamin F defect" EXACT [Orphanet:79284]
synonym: "cobalamin F deficiency" EXACT [DOID:0050717]
synonym: "cobalamin F disease" RELATED [OMIM:277380]
synonym: "cobalamin locus f variant" RELATED []
synonym: "cobalamin, defect in lysosomal release of" RELATED [OMIM:277380]
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF" EXACT [Orphanet:79284]
synonym: "inherited methylmalonic acidemia and homocystinuria" EXACT []
synonym: "lysosomal membrane cobalamin transporter deficiency" EXACT [Orphanet:79284]
synonym: "MAHCF" RELATED ABBREVIATION [OMIM:277380]
synonym: "methylmalonic acidemia and homocystinuria, cblF type" RELATED [OMIM:277380]
synonym: "methylmalonic acidemia with homocystinuria type cblF" RELATED [Orphanet:79284]
synonym: "methylmalonic aciduria and homocystinuria type cblF" EXACT CLINGEN_LABEL []
synonym: "methylmalonic aciduria and homocystinuria, cblF type" RELATED [OMIM:277380]
synonym: "methylmalonic aciduria due to vitamin B12-release defect" RELATED [OMIM:277380]
synonym: "methylmalonic aciduria with homocystinuria, type cblF" EXACT [Orphanet:79284]
synonym: "vitamin B12 lysosomal release defect" RELATED [OMIM:277380]
synonym: "vitamin B12 storage disease" RELATED [OMIM:277380]
xref: DOID:0050717 {source="MONDO:equivalentTo"}
xref: GARD:3584 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:79284", source="Orphanet:79284/attributed", source="Orphanet:79284/ntbt"}
xref: MEDGEN:336373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564747 {source="MONDO:equivalentTo"}
xref: NANDO:2201110 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:277380 {source="MONDO:equivalentTo", source="Orphanet:79284", source="DOID:0050717", source="Orphanet:79284/e"}
xref: Orphanet:26 {source="OMIM:277380"}
xref: Orphanet:79284 {source="OMIM:277380", source="MONDO:equivalentTo"}
xref: SCTID:80887004 {source="MONDO:equivalentTo"}
xref: UMLS:C1848578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336373"}
is_a: MONDO:0016826 {source="DC-OMIM:277380", source="Orphanet:79284"} ! methylmalonic aciduria and homocystinuria
relationship: disease_has_basis_in_disruption_of GO:0007041 {source="PMID:21502308"} ! lysosomal transport
relationship: disease_has_basis_in_disruption_of GO:0015889 {source="PMID:21502308"} ! cobalamin transport
relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23038 {source="MONDO:mim2gene_medgen"} ! LMBRD1

[Term]
id: MONDO:0010184
name: methylmalonic aciduria and homocystinuria type cblC
def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." [Orphanet:79282]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cblC" RELATED [GARD:0012128]
synonym: "cblC - cobalamin locus c" RELATED []
synonym: "cblC defect" EXACT [Orphanet:79282]
synonym: "cblC methylmalonic acidemia and homocystinuria" RELATED []
synonym: "cobalamin C defect" EXACT [Orphanet:79282]
synonym: "cobalamin C deficiency" EXACT [DOID:0050715]
synonym: "cobalamin c disease" EXACT []
synonym: "cobalamin locus c variant" RELATED []
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" EXACT [Orphanet:79282]
synonym: "MAHCC" RELATED ABBREVIATION [OMIM:277400]
synonym: "methylmalonic acidemia and homocystinuria cblC" RELATED [GARD:0012128]
synonym: "methylmalonic acidemia and homocystinuria, cblC type" RELATED [OMIM:277400]
synonym: "methylmalonic acidemia with homocystinuria type cblC" RELATED [GARD:0012128]
synonym: "methylmalonic acidemia with homocystinuria, type cblC" RELATED [Orphanet:79282]
synonym: "methylmalonic aciduria and homocystinuria cblC" RELATED [GARD:0012128]
synonym: "methylmalonic aciduria and homocystinuria type cblC" EXACT CLINGEN_LABEL []
synonym: "methylmalonic aciduria and homocystinuria, cblC type" RELATED [OMIM:277400]
synonym: "methylmalonic aciduria and homocystinuria, cblC type, digenic" RELATED [OMIM:277400]
synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" RELATED [OMIM:277400]
synonym: "methylmalonic aciduria with homocystinuria, type cblC" EXACT [Orphanet:79282]
synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" RELATED [OMIM:277400]
xref: DOID:0050715 {source="MONDO:equivalentTo"}
xref: GARD:12128 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:79282", source="Orphanet:79282/attributed", source="Orphanet:79282/ntbt"}
xref: MEDGEN:341256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201040 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201107 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C142174 {source="MONDO:equivalentTo"}
xref: OMIM:277400 {source="MONDO:equivalentTo", source="Orphanet:79282", source="DOID:0050715", source="Orphanet:79282/e"}
xref: Orphanet:26 {source="OMIM:277400"}
xref: Orphanet:79282 {source="MONDO:equivalentTo", source="OMIM:277400"}
xref: SCTID:74653006 {source="MONDO:equivalentTo"}
xref: UMLS:C1848561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341256"}
is_a: MONDO:0016826 {source="DC-OMIM:277400", source="Orphanet:79282"} ! methylmalonic aciduria and homocystinuria
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24525 {source="MONDO:mim2gene_medgen"} ! MMACHC

[Term]
id: MONDO:0010185
name: methylmalonic aciduria and homocystinuria type cblD
def: "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." [Orphanet:79283]
subset: gard_rare {source="GARD:3582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79283"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cblD - cobalamin locus d" RELATED []
synonym: "cblD defect" EXACT [Orphanet:79283]
synonym: "cblD methylmalonic acidemia and homocystinuria" RELATED []
synonym: "cobalamin D defect" EXACT [Orphanet:79283]
synonym: "cobalamin D deficiency" EXACT [DOID:0050716]
synonym: "cobalamin d disease" EXACT []
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD" EXACT [Orphanet:79283]
synonym: "homocystinuria, cblD type, variant 1" RELATED [OMIM:277410]
synonym: "homocystinuria, cblD type, variant 1, included" RELATED [GARD:0003582]
synonym: "m0e.321 cobalamin locus d variant" RELATED []
synonym: "MAHCD" RELATED ABBREVIATION [OMIM:277410]
synonym: "Mehtylmalonic acidemia with homocystinuria cbI d" RELATED [GARD:0003582]
synonym: "methylmalonic acidemia and homocystinuria, cblD type" RELATED [OMIM:277410]
synonym: "methylmalonic acidemia with homocystinuria type cblD" RELATED [GARD:0003582]
synonym: "methylmalonic acidemia with homocystinuria, type cblD" RELATED [Orphanet:79283]
synonym: "methylmalonic acidemia, Cblh type" RELATED [OMIM:277410]
synonym: "methylmalonic acidemia, Cblh type, formerly" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria and homocystinuria type cblD" EXACT CLINGEN_LABEL []
synonym: "methylmalonic aciduria and homocystinuria, cblD type" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria with homocystinuria, type cblD" EXACT [Orphanet:79283]
synonym: "methylmalonic aciduria, cblD type, variant 2" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria, cblD type, variant 2, included" RELATED [GARD:0003582]
synonym: "methylmalonic aciduria, Cblh type" RELATED [OMIM:277410]
synonym: "methylmalonic aciduria, Cblh type, formerly" RELATED [OMIM:277410]
xref: DOID:0050716 {source="MONDO:equivalentTo"}
xref: GARD:3582 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:79283", source="Orphanet:79283/attributed", source="Orphanet:79283/ntbt"}
xref: MEDGEN:341253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564743 {source="MONDO:equivalentTo"}
xref: NANDO:1200797 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201108 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:277410 {source="MONDO:equivalentTo", source="Orphanet:79283", source="Orphanet:79283/e", source="DOID:0050716"}
xref: Orphanet:26 {source="OMIM:277410"}
xref: Orphanet:28 {source="MONDO:relatedTo", source="OMIM:277410"}
xref: Orphanet:308380 {source="MONDO:relatedTo", source="OMIM:277410"}
xref: Orphanet:308442 {source="MONDO:relatedTo", source="OMIM:277410"}
xref: Orphanet:622 {source="MONDO:relatedTo", source="OMIM:277410"}
xref: Orphanet:79283 {source="MONDO:equivalentTo", source="OMIM:277410"}
xref: SCTID:31220004 {source="MONDO:equivalentTo"}
xref: UMLS:C1848552 {source="MEDGEN:341253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016826 {source="DC-OMIM:277410", source="Orphanet:79283"} ! methylmalonic aciduria and homocystinuria
is_a: MONDO:0100463 {source="https://orcid.org/0000-0002-5655-9589"} ! methylmalonic aciduria and/or homocystinuria, cblD type
relationship: disease_has_feature HP:0002156 ! Homocystinuria
relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25221 {source="MONDO:mim2gene_medgen"} ! MMADHC

[Term]
id: MONDO:0010186
name: vitamin D-dependent rickets, type 2A
def: "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." [NCIT:C131075]
subset: gard_rare {source="GARD:18169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "generalised resistance to 1,25-dihydroxyvitamin D" RELATED OMO:0003005 []
synonym: "generalized resistance to 1,25-dihydroxyvitamin D" RELATED [OMIM:277440]
synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia" EXACT [NCIT:C131075]
synonym: "hypocalcemic vitamin D-resistant rickets" RELATED [OMIM:277440]
synonym: "Pddr 2A" RELATED [OMIM:277440]
synonym: "Pseudovitamin D-deficiency, type 2A" RELATED [OMIM:277440]
synonym: "rickets, hereditary vitamin D-resistant" RELATED [OMIM:277440]
synonym: "rickets, vitamin D-resistant, type IIA" EXACT [OMIM:277440, OMIM:genemap2]
synonym: "rickets-alopecia syndrome" RELATED [OMIM:277440]
synonym: "VDDR2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277440]
synonym: "VDR vitamin D-dependent rickets, type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "vitamin D dependent rickets 2a" EXACT [NCIT:C131075]
synonym: "vitamin D receptor deficiency rickets" EXACT [NCIT:C131075]
synonym: "vitamin d-dependent rickets type II with alopecia" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "vitamin D-dependent rickets, type 2 caused by mutation in VDR" EXACT [MONDO:design_pattern]
synonym: "vitamin D-dependent rickets, type 2A" EXACT [MONDO:Lexical, OMIM:277440]
synonym: "vitamin D-dependent rickets, type 2A, with or without alopecia" RELATED [OMIM:277440]
synonym: "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" RELATED [OMIM:277440]
xref: DOID:0080884 {source="MONDO:equivalentTo"}
xref: GARD:18169 {source="MONDO:GARD"}
xref: MEDGEN:90989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562794 {source="MONDO:equivalentTo"}
xref: NCIT:C131075 {source="MONDO:equivalentTo"}
xref: OMIM:277440 {source="MONDO:equivalentTo"}
xref: Orphanet:93160 {source="OMIM:277440"}
xref: SCTID:237894002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90989"}
is_a: MONDO:0005520 {source="DC-OMIM:277440", source="MONDO:Redundant", source="NCIT:C131075"} ! rickets
is_a: MONDO:0019642 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! vitamin D-dependent rickets, type 2
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0019642 ! vitamin D-dependent rickets, type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12679 ! VDR
relationship: disease_has_basis_in_disruption_of GO:0004879 ! nuclear receptor activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12679 {source="MONDO:mim2gene_medgen"} ! VDR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010187
name: vitamin K-dependent clotting factors, combined deficiency of, type 1
def: "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." [Orphanet:98434]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX" EXACT [MONDO:design_pattern]
synonym: "factors II, VII, IX, and X, combined deficiency of" RELATED [OMIM:277450]
synonym: "familial multiple coagulation Factor deficiency 3" RELATED [OMIM:277450]
synonym: "FMFD 3" RELATED [OMIM:277450]
synonym: "GGCX congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glutamic acid, deficient gamma-carboxylation of" RELATED [OMIM:277450]
synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [Orphanet:98434]
synonym: "hereditary combined deficiency of vitamin K-dependent clotting factors" RELATED [Orphanet:98434]
synonym: "multiple coagulation Factor deficiency 3" RELATED [OMIM:277450]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:277450]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:277450]
synonym: "vitamin K-dependent coagulation defect" RELATED [OMIM:277450]
synonym: "Vkcfd" RELATED [OMIM:277450]
synonym: "VKCFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277450]
xref: DOID:0112173 {source="MONDO:equivalentTo"}
xref: GARD:18195 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:98434/attributed", source="Orphanet:98434/ntbt", source="Orphanet:98434"}
xref: MEDGEN:376381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564741 {source="MONDO:equivalentTo"}
xref: OMIM:277450 {source="Orphanet:98434", source="MONDO:equivalentTo", source="Orphanet:98434/e"}
xref: SCTID:724356003 {source="MONDO:equivalentTo"}
xref: UMLS:C1848534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376381"}
is_a: MONDO:0015722 {source="DC-OMIM:277450", source="MONDO:Redundant", source="OMIM:277450"} ! congenital vitamin K-dependent coagulation factors deficiency
is_a: MONDO:0021181 {source="MESH:C564741", source="MONDO:Redundant"} ! inherited blood coagulation disorder
intersection_of: MONDO:0015722 ! congenital vitamin K-dependent coagulation factors deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4247 ! GGCX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4247 {source="MONDO:mim2gene_medgen"} ! GGCX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI

[Term]
id: MONDO:0010188
name: familial isolated deficiency of vitamin E
def: "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." [Orphanet:96]
subset: gard_rare {source="GARD:8595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:817"}
subset: ordo_disorder {source="Orphanet:96"}
subset: orphanet_rare {source="Orphanet:96"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia with isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96]
synonym: "Ataxia with Vitamin E Deficiency" EXACT [NORD:817]
synonym: "ataxia with vitamin E deficiency" RELATED [Orphanet:96]
synonym: "ataxia, Friedreich-like, with selective vitamin E deficiency" RELATED [OMIM:277460]
synonym: "AVED" EXACT ABBREVIATION [Orphanet:96]
synonym: "familial isolated deficiency of vitamin type E" EXACT [DOID:0090028, MONDORULE:1]
synonym: "familial isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96]
synonym: "Friedreich-like ataxia" EXACT [OMIM:277460, Orphanet:96]
synonym: "Friedreich-like ataxia with selective vitamin E deficiency" RELATED [GARD:0008595]
synonym: "isolated vitamin E deficiency" EXACT [Orphanet:96]
synonym: "VED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277460]
synonym: "vitamin E, familial isolated deficiency OF" RELATED [MONDO:Lexical, OMIM:277460]
xref: DOID:0090028 {source="MONDO:equivalentTo"}
xref: GARD:8595 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:96/attributed", source="Orphanet:96/ntbt", source="DOID:0090028", source="Orphanet:96"}
xref: ICD9:269.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10047631 {source="Orphanet:96/e", source="Orphanet:96"}
xref: MEDGEN:341248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535393 {source="Orphanet:96/e", source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96"}
xref: NANDO:1200050 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:817 {source="MONDO:NORD"}
xref: OMIM:277460 {source="Orphanet:96/e", source="MONDO:equivalentTo", source="DOID:0090028", source="Orphanet:96"}
xref: Orphanet:96 {source="OMIM:277460", source="MONDO:equivalentTo", source="DOID:0090028"}
xref: SCTID:702442008 {source="MONDO:equivalentTo"}
xref: UMLS:C1848533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341248"}
is_a: MONDO:0005528 {source="DOID:0090028"} ! inborn vitamin metabolic disorder
is_a: MONDO:0020044 {source="Orphanet:96"} ! autosomal recessive metabolic cerebellar ataxia
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12404 {source="MONDO:mim2gene_medgen"} ! TTPA

[Term]
id: MONDO:0010189
name: vitiligo, progressive, with intellectual disability and urethral duplication
synonym: "vitiligo, progressive, with intellectual disability and urethral duplication" EXACT [OMIM:277465]
synonym: "vitiligo, progressive, with mental retardation and urethral duplication" EXACT DEPRECATED [OMIM:277465]
xref: MEDGEN:336363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564739 {source="MONDO:equivalentTo"}
xref: OMIM:277465 {source="MONDO:equivalentTo"}
xref: UMLS:C1848532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336363"}
is_a: MONDO:0003847 {source="MESH:C564739/inferred"} ! hereditary disease

[Term]
id: MONDO:0010190
name: pontocerebellar hypoplasia type 2A
subset: gard_rare {source="GARD:15244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microcephaly pontocerebellar hypoplasia dyskinesia" RELATED [GARD:0003631]
synonym: "Pch2" RELATED [OMIM:277470]
synonym: "PCH2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277470]
synonym: "pontocerebellar hypoplasia type 2 caused by mutation in TSEN54" EXACT [MONDO:design_pattern]
synonym: "pontocerebellar hypoplasia with progressive cerebral atrophy" RELATED [OMIM:277470]
synonym: "pontocerebellar hypoplasia, type 2A" RELATED [MONDO:Lexical, OMIM:277470]
synonym: "TSEN54 pontocerebellar hypoplasia type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Volendam neurodegenerative disease" RELATED [OMIM:277470]
xref: DOID:0060267 {source="MONDO:equivalentTo"}
xref: GARD:15244 {source="MONDO:GARD"}
xref: MEDGEN:376379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564738 {source="DOID:0060267", source="MONDO:equivalentTo"}
xref: OMIM:277470 {source="GARD:0003631", source="DOID:0060267", source="MONDO:equivalentTo"}
xref: Orphanet:2524 {source="OMIM:277470", source="DOID:0060267"}
xref: UMLS:C1848526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376379"}
is_a: MONDO:0016759 {source="MONDO:Redundant", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2
is_a: MONDO:0020135 {source="DOID:0060267", source="MONDO:Redundant", source="OMIM:277470"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0016759 ! pontocerebellar hypoplasia type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 ! TSEN54
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 {source="MONDO:mim2gene_medgen"} ! TSEN54
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia" xsd:anyURI {source="GARD:0003631"}

[Term]
id: MONDO:0010191
name: von Willebrand disease 3
def: "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." [Orphanet:166096]
subset: gard_rare {source="GARD:17025", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166096"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "von Willebrand disease 3" EXACT CLINGEN_LABEL []
synonym: "von Willebrand disease type 3" EXACT [DOID:0111054]
synonym: "von Willebrand disease type III" EXACT [DOID:0111054]
synonym: "VON WILLEBRAND disease, type 3" RELATED [MONDO:Lexical, OMIM:277480]
synonym: "Von Willebrand disease, type 3" RELATED [OMIM:277480]
synonym: "von Willebrand's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "von Willebrand's disease type 3" EXACT [DOID:0111054, MONDORULE:1]
synonym: "VWD type 3" EXACT [DOID:0111054]
synonym: "VWD, type 3" RELATED [OMIM:277480]
synonym: "VWD3" EXACT ABBREVIATION [DOID:0111054, MONDO:Lexical, OMIM:277480]
xref: DOID:0111054 {source="MONDO:equivalentTo"}
xref: GARD:17025 {source="MONDO:GARD"}
xref: ICD10CM:D68.0 {source="Orphanet:166096/attributed", source="Orphanet:166096/ntbt", source="DOID:0111054", source="Orphanet:166096"}
xref: MEDGEN:266075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056729 {source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="Orphanet:166096"}
xref: NCIT:C85213 {source="MONDO:equivalentTo"}
xref: OMIM:277480 {source="Orphanet:166096/e", source="MONDO:equivalentTo", source="DOID:0111054", source="Orphanet:166096"}
xref: Orphanet:166096 {source="OMIM:277480", source="MONDO:equivalentTo", source="DOID:0111054"}
xref: Orphanet:903 {source="OMIM:277480"}
xref: SCTID:128108002 {source="MONDO:equivalentTo"}
xref: UMLS:C1264041 {source="MEDGEN:266075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019565 {source="DC-OMIM:277480", source="DOID:0111054", source="MESH:D056729", source="NCIT:C85213", source="Orphanet:166096"} ! hereditary von Willebrand disease
is_a: MONDO:0024574 {source="MESH:D056729", source="NCIT:C85213"} ! von Willebrand disease (hereditary or acquired)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12726 {source="MONDO:mim2gene_medgen"} ! VWF

[Term]
id: MONDO:0010192
name: Waardenburg syndrome type 4A
def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15245", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EDNRB Waardenburg syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Shah-Waardenburg syndrome" RELATED [OMIM:277580]
synonym: "Waardenburg syndrome caused by mutation in EDNRB" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type 4A" EXACT CLINGEN_LABEL []
synonym: "Waardenburg syndrome type IVA" EXACT [DOID:0110953]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4A" EXACT [DOID:0110953]
synonym: "Waardenburg syndrome with Hirschsprung disease, type 4A" RELATED [OMIM:277580]
synonym: "Waardenburg syndrome, type 4A" RELATED [MONDO:Lexical, OMIM:277580]
synonym: "Waardenburg-Shah syndrome" RELATED [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, OMIM:277580]
synonym: "Ws4" RELATED [OMIM:277580]
synonym: "WS4A" EXACT ABBREVIATION [DOID:0110953, MONDO:Lexical, OMIM:277580]
xref: DOID:0110953 {source="MONDO:equivalentTo"}
xref: GARD:15245 {source="MONDO:GARD"}
xref: MEDGEN:341244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:277580 {source="DOID:0110953", source="MONDO:equivalentTo"}
xref: Orphanet:897 {source="OMIM:277580"}
xref: UMLS:C1848519 {source="MEDGEN:341244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="DC-OMIM:277580", source="DOID:0110953", source="OMIM:277580"} ! Waardenburg syndrome
is_a: MONDO:0019518 {source="GARD:0005524/text"} ! Waardenburg-Shah syndrome
intersection_of: MONDO:0018094 ! Waardenburg syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 ! EDNRB
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:277580"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 {source="MONDO:mim2gene_medgen"} ! EDNRB

[Term]
id: MONDO:0010193
name: Weaver syndrome
def: "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." [Orphanet:3447]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7878", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1839", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3447"}
subset: ordo_malformation_syndrome {source="Orphanet:3447"}
subset: orphanet_rare {source="Orphanet:3447"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptodactyly - overgrowth - unusual facies" RELATED [GARD:0007878]
synonym: "camptodactyly-overgrowth-unusual facies syndrome" EXACT [Orphanet:3447]
synonym: "EZH2 related overgrowth" RELATED [GARD:0007878]
synonym: "intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate" RELATED [GTR:AN0102080]
synonym: "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate" RELATED DEPRECATED [GTR:AN0102080]
synonym: "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly" RELATED [GARD:0007878]
synonym: "Weaver like syndrome" RELATED [GARD:0007878]
synonym: "Weaver Smith syndrome" RELATED [GARD:0007878]
synonym: "WEAVER syndrome" RELATED [OMIM:277590]
synonym: "Weaver syndrome" EXACT [MONDO:Lexical, OMIM:277590]
synonym: "Weaver Williams syndrome" RELATED [GTR:AN0102079]
synonym: "WEAVER-like syndrome" EXACT [DOID:14731]
synonym: "Weaver-like syndrome" RELATED [OMIM:277590]
synonym: "Weaver-Smith syndrome" RELATED [OMIM:277590]
synonym: "Weaver-Williams syndrome" RELATED EXCLUDE [DOID:14731]
synonym: "WVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277590]
xref: DOID:14731 {source="MONDO:equivalentTo"}
xref: GARD:7878 {source="MONDO:GARD"}
xref: GTR:AN0102079
xref: GTR:AN0102080
xref: ICD10CM:Q87.3 {source="Orphanet:3447/inclusion", source="Orphanet:3447", source="Orphanet:3447/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536687 {source="MONDO:equivalentTo", source="Orphanet:3447", source="Orphanet:3447/e"}
xref: MESH:C562443 {source="DOID:14731"}
xref: NANDO:1200659 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200957 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125599 {source="MONDO:equivalentTo"}
xref: NORD:1839 {source="MONDO:NORD"}
xref: OMIM:277590 {source="MONDO:equivalentTo", source="Orphanet:3447", source="DOID:14731", source="Orphanet:3447/e"}
xref: Orphanet:3447 {source="OMIM:277590", source="MONDO:equivalentTo"}
xref: SCTID:63119004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120511"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125599"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015159 {source="Orphanet:3447"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0019716 {source="Orphanet:3447"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3447", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3527 {source="MONDO:mim2gene_medgen"} ! EZH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010194
name: Weill-Marchesani syndrome 1
def: "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15246", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADAMTS10 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mesodermal Dysmorphodystrophy, congenital" RELATED [OMIM:277600]
synonym: "spherophakia-brachymorphia syndrome" RELATED [OMIM:277600]
synonym: "Weill-Marchesani syndrome 1" EXACT [MONDO:Lexical, OMIM:277600]
synonym: "Weill-Marchesani syndrome 1, recessive" EXACT [OMIM:277600, OMIM:genemap2]
synonym: "Weill-Marchesani syndrome caused by mutation in ADAMTS10" EXACT [MONDO:design_pattern]
synonym: "Weill-Marchesani syndrome type 1" EXACT [MONDORULE:1, OMIM:277600]
synonym: "Weill-Marchesani syndrome, autosomal recessive" RELATED [OMIM:277600]
synonym: "WMS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277600]
xref: GARD:15246 {source="MONDO:GARD"}
xref: MEDGEN:1637058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:277600 {source="MONDO:equivalentTo"}
xref: Orphanet:3449 {source="OMIM:277600"}
xref: UMLS:C4552002 {source="MEDGEN:1637058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018096 {source="DC-OMIM:277600", source="MONDO:Redundant", source="OMIM:277600"} ! Weill-Marchesani syndrome
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
intersection_of: MONDO:0018096 ! Weill-Marchesani syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13201 ! ADAMTS10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13201 {source="MONDO:mim2gene_medgen"} ! ADAMTS10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010195
name: obsolete Weissenbacher-Zweymuller syndrome
comment: Obsoleted in OMIM and Orphanet.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1689" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008490

[Term]
id: MONDO:0010196
name: Werner syndrome
def: "A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." [Orphanet:902]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1845"}
subset: ordo_disorder {source="Orphanet:902"}
subset: orphanet_rare {source="Orphanet:902"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult premature ageing syndrome" EXACT OMO:0003005 []
synonym: "adult premature aging syndrome" EXACT [DOID:5688]
synonym: "adult progeria" EXACT [DOID:5688, Orphanet:902]
synonym: "Werner syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:277700]
synonym: "Werner's syndrome" EXACT [DOID:5688]
synonym: "WRN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277700]
synonym: "WS" EXACT ABBREVIATION [DOID:5688, NCIT:C3447, Orphanet:902]
xref: DOID:5688 {source="MONDO:equivalentTo"}
xref: GARD:7885 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:902", source="Orphanet:902/index", source="Orphanet:902/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049429 {source="Orphanet:902", source="Orphanet:902/e"}
xref: MEDGEN:12147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014898 {source="DOID:5688", source="MONDO:equivalentTo", source="Orphanet:902", source="Orphanet:902/e"}
xref: NANDO:1200676 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200831 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3447 {source="DOID:5688", source="MONDO:equivalentTo"}
xref: NORD:1845 {source="MONDO:NORD"}
xref: OMIM:277700 {source="DOID:5688", source="MONDO:equivalentTo", source="Orphanet:902", source="Orphanet:902/e"}
xref: Orphanet:902 {source="DOID:5688", source="MONDO:equivalentTo", source="OMIM:277700"}
xref: SCTID:190590004 {source="DOID:5688"}
xref: SCTID:190592007 {source="DOID:5688"}
xref: SCTID:51626007 {source="DOID:5688", source="MONDO:equivalentTo"}
xref: UMLS:C0043119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12147"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:5688", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015333 {source="Orphanet:902", source="https://orcid.org/0000-0001-6330-7526"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0016382 {source="Orphanet:902", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary poikiloderma
relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:902", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:277700", source="Orphanet:902"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12791 {source="MONDO:mim2gene_medgen"} ! WRN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0010197
name: whistling face syndrome, recessive form
subset: gard_rare {source="GARD:10024", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "whistling face syndrome, recessive form" EXACT [OMIM:277720]
xref: DOID:0111606 {source="MONDO:equivalentTo"}
xref: GARD:10024 {source="MONDO:GARD"}
xref: MEDGEN:376364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536699 {source="MONDO:equivalentTo"}
xref: OMIM:277720 {source="MONDO:equivalentTo"}
xref: Orphanet:2053 {source="OMIM:277720"}
xref: UMLS:C1848470 {source="MEDGEN:376364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008675 {source="Orphanet:2053/btnt"} ! Freeman-Sheldon syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form" xsd:anyURI {source="GARD:0010024"}

[Term]
id: MONDO:0010198
name: Wernicke-Korsakoff syndrome
def: "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." [https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome]
comment: Editor note: todo check
subset: otar {source="MONDO:OTAR"}
synonym: "alcohol-induced encephalopathy" RELATED [OMIM:277730]
synonym: "Korsakoff syndrome" EXACT [DOID:10915]
synonym: "Korsakoff's psychosis" EXACT [DOID:10915]
synonym: "Korsakoff's syndrome" EXACT [DOID:10915]
synonym: "Korsakov psychosis" EXACT [DOID:10915]
synonym: "Korsakov's psychosis" EXACT [DOID:10915]
synonym: "transketolase defect" RELATED [OMIM:277730]
synonym: "Wernicke encephalopathy" RELATED [NCIT:C35764]
synonym: "Wernicke-Korsakoff syndrome" EXACT [OMIM:277730]
xref: DOID:10915 {source="EFO:1001242", source="MONDO:equivalentTo"}
xref: EFO:1001242 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10047913 {source="EFO:1001242"}
xref: MEDGEN:83883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538669 {source="MONDO:equivalentTo"}
xref: MESH:D020915 {source="EFO:1001242", source="DOID:10915"}
xref: NCIT:C35764 {source="EFO:1001242", source="MONDO:equivalentTo", source="DOID:10915"}
xref: NCIT:C84803 {source="DOID:10915"}
xref: OMIM:277730 {source="MONDO:equivalentTo", source="DOID:10915"}
xref: Orphanet:97354 {source="OMIM:277730"}
xref: SCTID:154854002 {source="DOID:10915"}
xref: SCTID:191470004 {source="DOID:10915"}
xref: SCTID:191472007 {source="DOID:10915"}
xref: SCTID:268745002 {source="DOID:10915"}
xref: SCTID:69482004 {source="EFO:1001242", source="MONDO:equivalentTo", source="DOID:10915"}
xref: UMLS:C0349464 {source="MEDGEN:83883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C35764"} ! syndromic disease
is_a: MONDO:0006873 {source="DOID:10915"} ! nutritional deficiency disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome" xsd:anyURI {source="GARD:0006843"}

[Term]
id: MONDO:0010199
name: white forelock with malformations
def: "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." [Orphanet:2475]
subset: gard_rare {source="GARD:10081", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2475"}
subset: ordo_malformation_syndrome {source="Orphanet:2475"}
subset: orphanet_rare {source="Orphanet:2475"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "white forelock with malformations" EXACT [OMIM:277740]
xref: GARD:10081 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2475/attributed", source="Orphanet:2475/ntbt", source="Orphanet:2475"}
xref: MEDGEN:376362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536700 {source="Orphanet:2475", source="MONDO:equivalentTo", source="Orphanet:2475/e"}
xref: OMIM:277740 {source="Orphanet:2475", source="MONDO:equivalentTo", source="Orphanet:2475/e"}
xref: Orphanet:2475 {source="MONDO:equivalentTo", source="OMIM:277740"}
xref: SCTID:763619009 {source="MONDO:equivalentTo"}
xref: UMLS:C1848463 {source="MEDGEN:376362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015161 {source="Orphanet:2475"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2475", source="Orphanet:2475/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10081/white-forelock-with-malformations" xsd:anyURI {source="GARD:0010081"}

[Term]
id: MONDO:0010200
name: Wilson disease
def: "A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body." [https://orcid.org/0000-0001-5208-3432, Orphanet:905]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1856"}
subset: ordo_disorder {source="Orphanet:905"}
subset: orphanet_rare {source="Orphanet:905"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral pseudosclerosis" EXACT [DOID:893]
synonym: "hepatolenticular Degeneration" RELATED [OMIM:277900]
synonym: "hepatolenticular degeneration" EXACT [DOID:893, Orphanet:905]
synonym: "WD" RELATED ABBREVIATION [GARD:0007893]
synonym: "Westphal pseudosclerosis" EXACT [DOID:893]
synonym: "Westphal-Strumpell syndrome" EXACT [DOID:893]
synonym: "Wilson disease" EXACT CLINGEN_LABEL [OMIM:277900]
synonym: "Wilson's disease" EXACT [DOID:893]
synonym: "Wnd" RELATED [OMIM:277900]
xref: DOID:893 {source="MONDO:equivalentTo"}
xref: GARD:7893 {source="MONDO:GARD"}
xref: ICD10CM:E83.0 {source="Orphanet:905/inclusion", source="Orphanet:905/ntbt", source="Orphanet:905"}
xref: ICD10CM:E83.01 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-9859-8589", source="DOID:893"}
xref: icd11.foundation:468161208 {source="MONDO:equivalentTo", source="Orphanet:905"}
xref: MedDRA:10019819 {source="Orphanet:905/e", source="Orphanet:905"}
xref: MEDGEN:42426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006527 {source="Orphanet:905/e", source="MONDO:equivalentTo", source="Orphanet:905", source="DOID:893"}
xref: NANDO:1200655 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200579 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84756 {source="MONDO:equivalentTo", source="DOID:893"}
xref: NORD:1856 {source="MONDO:NORD"}
xref: OMIM:277900 {source="Orphanet:905/e", source="MONDO:equivalentTo", source="Orphanet:905", source="DOID:893"}
xref: Orphanet:905 {source="MONDO:equivalentTo", source="OMIM:277900"}
xref: SCTID:154751003 {source="DOID:893"}
xref: SCTID:190823004 {source="DOID:893"}
xref: SCTID:191710006 {source="DOID:893"}
xref: SCTID:192640001 {source="DOID:893"}
xref: SCTID:267504005 {source="DOID:893"}
xref: SCTID:88518009 {source="MONDO:equivalentTo", source="DOID:893"}
xref: UMLS:C0019202 {source="MEDGEN:42426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004689 {source="DOID:893", source="MESH:D006527"} ! inborn metal metabolism disorder
is_a: MONDO:0005066 {source="Orphanet:905", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
is_a: MONDO:0017762 {source="Orphanet:905", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of copper metabolism
relationship: excluded_subClassOf MONDO:0005071 {source="MONDO:0020016-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0005395 {source="Orphanet:905", source="https://orcid.org/0000-0001-5208-3432"} ! movement disorder
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:905", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy
relationship: excluded_subClassOf MONDO:0020257 {source="Orphanet:905", source="https://orcid.org/0000-0001-5208-3432"} ! supranuclear oculomotor palsy
relationship: excluded_subClassOf MONDO:0044807 {source="MONDO:0018265-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! inherited dystonia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115", source="MONDO:0017644"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/870 {source="MONDO:mim2gene_medgen"} ! ATP7B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6891" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7893/wilson-disease" xsd:anyURI {source="GARD:0007893"}

[Term]
id: MONDO:0010201
name: Winchester syndrome
subset: gard_rare {source="GARD:7894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1857"}
subset: rare
synonym: "Al-Qeel Sewairi syndrome" RELATED [GARD:0007894]
synonym: "MMP14-related multicentric osteolysis, nodulosis, and arthropathy" EXACT [https://orcid.org/0000-0001-9310-0163]
synonym: "MONA, MMP14-related" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427]
synonym: "multicentric osteolysis, nodulosis and arthropathy" RELATED [GARD:0007894]
synonym: "multicentric osteolysis, nodulosis and arthropathy, MMP14-related" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427]
synonym: "NOA syndrome" RELATED [GARD:0007894]
synonym: "nodulosis arthropathy osteolysis syndrome" RELATED [GARD:0007894]
synonym: "Winchester syndrome" EXACT [MONDO:Lexical, OMIM:277950]
synonym: "WNCHRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:277950]
xref: DOID:0080696 {source="MONDO:equivalentTo"}
xref: GARD:7894 {source="MONDO:GARD"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536709 {source="MONDO:equivalentTo"}
xref: NCIT:C170731 {source="MONDO:equivalentTo"}
xref: NORD:1857 {source="MONDO:NORD"}
xref: OMIM:277950 {source="MONDO:equivalentTo"}
xref: Orphanet:3460 {source="MONDO:relatedTo", source="OMIM:277950"}
xref: Orphanet:371428 {source="MONDO:relatedTo", source="OMIM:277950"}
xref: SCTID:254151006 {source="MONDO:equivalentTo"}
xref: UMLS:C0432289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98152"}
is_a: MONDO:0003847 {source="OMIM:277950"} ! hereditary disease
is_a: MONDO:0018298 {source="https://orcid.org/0000-0001-5493-2602"} ! multicentric osteolysis-nodulosis-arthropathy spectrum
is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7160 {source="MONDO:mim2gene_medgen"} ! MMP14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5784" xsd:anyURI

[Term]
id: MONDO:0010202
name: obsolete Wiskott-Aldrich syndrome
is_obsolete: true
replaced_by: MONDO:0010518

[Term]
id: MONDO:0010203
name: intellectual disability, Wolff type
def: "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." [Orphanet:3080]
subset: gard_rare {source="GARD:3530", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3080"}
subset: ordo_malformation_syndrome {source="Orphanet:3080"}
subset: orphanet_rare {source="Orphanet:3080"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "WOLFF intellectual disability syndrome" RELATED [OMIM:277990]
synonym: "WOLFF mental retardation syndrome" RELATED DEPRECATED [OMIM:277990]
synonym: "Wolff-Zimmermann syndrome" EXACT [Orphanet:3080]
xref: GARD:3530 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3080", source="Orphanet:3080/attributed", source="Orphanet:3080/ntbt"}
xref: MEDGEN:336345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537448 {source="MONDO:equivalentTo"}
xref: OMIM:277990 {source="MONDO:equivalentTo", source="Orphanet:3080", source="Orphanet:3080/e"}
xref: Orphanet:3080 {source="OMIM:277990", source="MONDO:equivalentTo"}
xref: UMLS:C1848439 {source="MEDGEN:336345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3080", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:3080"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010204
name: obsolete lysosomal acid lipase deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:12097 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6379" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800449

[Term]
id: MONDO:0010205
name: obsolete Wolman disease with hypolipoproteinemia and acanthocytosis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5903" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019148

[Term]
id: MONDO:0010206
name: hypotrichosis 8
def: "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypotrichosis 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:278150]
synonym: "hypotrichosis caused by mutation in LPAR6" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 8" EXACT [DOID:0110705, MONDORULE:1, OMIM:278150]
synonym: "hypotrichosis, localized, autosomal recessive 3" EXACT [DOID:0110705, OMIM:278150]
synonym: "HYPT8" EXACT ABBREVIATION [DOID:0110705, MONDO:Lexical, OMIM:278150]
synonym: "LAH3" EXACT ABBREVIATION [DOID:0110705]
synonym: "LPAR6 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "woolly hair, autosomal recessive 1, with or without hypotrichosis" RELATED OMO:0003005 []
synonym: "wooly hair, autosomal recessive 1, with or without hypotrichosis" RELATED [OMIM:278150]
xref: DOID:0110705 {source="MONDO:equivalentTo"}
xref: GARD:15247 {source="MONDO:GARD"}
xref: MEDGEN:481100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566950 {source="MONDO:equivalentTo"}
xref: OMIM:278150 {source="DOID:0110705", source="MONDO:equivalentTo"}
xref: Orphanet:170 {source="OMIM:278150"}
xref: Orphanet:55654 {source="OMIM:278150"}
xref: UMLS:C3279470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481100"}
is_a: MONDO:0003037 {source="DOID:0110705", source="MESH:C566950", source="MONDO:Redundant", source="OMIM:278150"} ! hypotrichosis
is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial wooly hair disorder
is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15520 ! LPAR6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15520 {source="MONDO:mim2gene_medgen"} ! LPAR6

[Term]
id: MONDO:0010207
name: wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1409"}
subset: otar {source="MONDO:OTAR"}
synonym: "Salamon syndrome" EXACT [OMIM:278200, Orphanet:1409]
synonym: "woolly hair hypotrichosis everted lower lip and outstanding ears" RELATED OMO:0003005 []
synonym: "woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED OMO:0003005 []
synonym: "wooly hair hypotrichosis everted lower lip and outstanding ears" RELATED [GARD:0005594]
synonym: "wooly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED [OMIM:278200]
synonym: "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" EXACT [Orphanet:1409]
xref: MEDGEN:98033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536746 {source="Orphanet:1409/e", source="MONDO:equivalentTo", source="Orphanet:1409"}
xref: OMIM:278200 {source="Orphanet:1409/e", source="MONDO:equivalentTo", source="Orphanet:1409"}
xref: Orphanet:1409 {source="MONDO:equivalentObsolete", source="OMIM:278200"}
xref: SCTID:239023005 {source="MONDO:equivalentTo"}
xref: UMLS:C0406718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98033"}
is_a: MONDO:0002254 {source="Orphanet:1409"} ! syndromic disease

[Term]
id: MONDO:0010208
name: wrinkly skin syndrome
def: "A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2834]
subset: gard_rare {source="GARD:273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2834"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "wrinkled skin syndrome" EXACT [Orphanet:2834]
synonym: "wrinkly skin syndrome" EXACT [MONDO:Lexical, OMIM:278250]
synonym: "WSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:278250, Orphanet:2834]
xref: DOID:0112171 {source="MONDO:equivalentTo"}
xref: GARD:273 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2834", source="Orphanet:2834/attributed", source="Orphanet:2834/ntbt"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536750 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"}
xref: OMIM:278250 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"}
xref: Orphanet:2834 {source="OMIM:278250", source="MONDO:equivalentTo"}
xref: Orphanet:357058 {source="OMIM:278250"}
xref: SCTID:238875009 {source="MONDO:equivalentTo"}
xref: UMLS:C0406587 {source="MEDGEN:98030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018163 {source="Orphanet:2834"} ! autosomal recessive cutis laxa type 2A
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18481 {source="MONDO:mim2gene_medgen"} ! ATP6V0A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010209
name: xanthinuria type I
def: "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." [Orphanet:93601]
subset: gard_rare {source="GARD:5621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93601"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93601"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary xanthinuria, type I" RELATED []
synonym: "isolated xanthine oxidase deficiency" EXACT []
synonym: "type 1 xanthinuria" RELATED [GARD:0005621]
synonym: "XAN1" EXACT ABBREVIATION [MESH:C562584]
synonym: "xanthine dehydrogenase deficiency" BROAD [MESH:C562584]
synonym: "xanthine oxidase deficiency" BROAD [MESH:C562584]
synonym: "xanthine oxidoreductase deficiency" BROAD [Orphanet:93601]
synonym: "xanthinuria type 1" EXACT [GARD:0005621]
synonym: "xanthinuria type I" EXACT CLINGEN_LABEL []
synonym: "xanthinuria, type 1" EXACT [OMIM:278300]
synonym: "xanthinuria, type I" EXACT [OMIM:278300]
synonym: "XDH deficiency" BROAD [MESH:C562584, OMIM:278300, Orphanet:93601]
synonym: "XO deficiency" BROAD [Orphanet:93601]
synonym: "XOR deficiency" BROAD [Orphanet:93601]
xref: DOID:0070452 {source="MONDO:equivalentTo"}
xref: GARD:5621 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:93601", source="Orphanet:93601/attributed", source="Orphanet:93601/ntbt"}
xref: MEDGEN:82771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562584 {source="MONDO:equivalentTo"}
xref: OMIM:278300 {source="MONDO:equivalentTo", source="Orphanet:93601", source="Orphanet:93601/e"}
xref: Orphanet:3467 {source="OMIM:278300"}
xref: Orphanet:93601 {source="MONDO:equivalentTo", source="OMIM:278300"}
xref: SCTID:72682008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268118 {source="MEDGEN:82771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018106 {source="MONDO:Redundant", source="OMIM:278300", source="Orphanet:93601"} ! hereditary xanthinuria
is_a: MONDO:0019052 {source="MESH:C562584", source="MONDO:Redundant", source="Orphanet:93601/inferred"} ! inborn errors of metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12805 {source="MONDO:mim2gene_medgen"} ! XDH

[Term]
id: MONDO:0010210
name: xeroderma pigmentosum group A
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "xeroderma pigmentosum 1" EXACT [DOID:0110843, OMIM:278700]
synonym: "xeroderma pigmentosum caused by mutation in XPA" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum complementation group A" EXACT [DOID:0110843]
synonym: "xeroderma pigmentosum group A" EXACT CLINGEN_LABEL []
synonym: "xeroderma pigmentosum group type A" EXACT [DOID:0110843, MONDORULE:1]
synonym: "xeroderma pigmentosum, complementation group A" RELATED [MONDO:Lexical, OMIM:278700]
synonym: "xeroderma pigmentosum, complementation group type a" EXACT [MONDORULE:1, OMIM:278700]
synonym: "xeroderma pigmentosum, group A" EXACT [OMIM:278700, OMIM:genemap2]
synonym: "xeroderma pigmentosum, type 1" RELATED [GARD:0005624]
synonym: "XP group A" EXACT [DOID:0110843]
synonym: "XP, group A" RELATED [OMIM:278700]
synonym: "XP-A" EXACT [NCIT:C3965]
synonym: "XP1" EXACT ABBREVIATION [DOID:0110843]
synonym: "XPA" EXACT ABBREVIATION [DOID:0110843, MONDO:Lexical, OMIM:278700]
synonym: "XPA xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110843 {source="MONDO:equivalentTo"}
xref: GARD:5624 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="DOID:0110843"}
xref: MEDGEN:82775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3965 {source="MONDO:equivalentTo"}
xref: OMIM:278700 {source="DOID:0110843", source="MONDO:equivalentTo"}
xref: Orphanet:276249 {source="MONDO:equivalentObsolete", source="OMIM:278700"}
xref: Orphanet:910 {source="OMIM:278700"}
xref: SCTID:43477006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268135 {source="MEDGEN:82775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019600 {source="DC-OMIM:278700", source="DOID:0110843", source="MONDO:Redundant", source="NCIT:C3965"} ! xeroderma pigmentosum
intersection_of: MONDO:0019600 ! xeroderma pigmentosum
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12814 ! XPA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12814 {source="MONDO:mim2gene_medgen"} ! XPA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010211
name: xeroderma pigmentosum group C
def: "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." [NCIT:C114770]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "xeroderma pigmentosum 3" RELATED [OMIM:278720]
synonym: "xeroderma pigmentosum group C" EXACT CLINGEN_LABEL []
synonym: "xeroderma pigmentosum group type C" EXACT [DOID:0110844, MONDORULE:1]
synonym: "xeroderma pigmentosum III" EXACT [DOID:0110844]
synonym: "xeroderma pigmentosum, complementation group C" RELATED [MONDO:Lexical, OMIM:278720]
synonym: "xeroderma pigmentosum, complementation group type C" EXACT [MONDORULE:1, OMIM:278720]
synonym: "xeroderma pigmentosum, group C" EXACT [OMIM:278720, OMIM:genemap2]
synonym: "xeroderma pigmentosum, type 3" RELATED [GARD:0005626]
synonym: "XP group C" EXACT [DOID:0110844]
synonym: "XP, Group C" RELATED [OMIM:278720]
synonym: "XP-C" EXACT [NCIT:C114770]
synonym: "XP3" EXACT ABBREVIATION [DOID:0110844]
synonym: "XPC" EXACT ABBREVIATION [DOID:0110844, MONDO:Lexical, OMIM:278720]
synonym: "XPCC" EXACT ABBREVIATION [DOID:0110844, OMIM:278720]
xref: DOID:0110844 {source="MONDO:equivalentTo"}
xref: GARD:5626 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="DOID:0110844"}
xref: MEDGEN:416702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567886 {source="MONDO:equivalentTo"}
xref: NCIT:C114770 {source="MONDO:equivalentTo"}
xref: OMIM:278720 {source="DOID:0110844", source="MONDO:equivalentTo"}
xref: Orphanet:276255 {source="MONDO:equivalentObsolete", source="OMIM:278720"}
xref: Orphanet:910 {source="OMIM:278720"}
xref: SCTID:25784009 {source="MONDO:equivalentTo"}
xref: UMLS:C2752147 {source="MEDGEN:416702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019600 {source="DC-OMIM:278720", source="DOID:0110844", source="MESH:C567886", source="NCIT:C114770"} ! xeroderma pigmentosum
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12816 {source="MONDO:mim2gene_medgen"} ! XPC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010212
name: xeroderma pigmentosum group D
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16452", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ERCC2 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xeroderma pigmentosum 4" RELATED [OMIM:278730]
synonym: "xeroderma pigmentosum caused by mutation in ERCC2" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum group D" EXACT CLINGEN_LABEL []
synonym: "xeroderma pigmentosum group type D" EXACT [DOID:0110845, MONDORULE:1]
synonym: "xeroderma pigmentosum IV" EXACT [DOID:0110845]
synonym: "xeroderma pigmentosum VIII" EXACT [DOID:0110845]
synonym: "xeroderma pigmentosum, complementation group D" RELATED [MONDO:Lexical, OMIM:278730]
synonym: "xeroderma pigmentosum, complementation group type D" EXACT [MONDORULE:1, OMIM:278730]
synonym: "xeroderma pigmentosum, group D" EXACT [OMIM:278730, OMIM:genemap2]
synonym: "XP group D" EXACT [DOID:0110845]
synonym: "XP group H" EXACT [DOID:0110845]
synonym: "XP, Group D" RELATED [OMIM:278730]
synonym: "XP, Group H" RELATED [OMIM:278730]
synonym: "XP, Group H, formerly" RELATED [OMIM:278730]
synonym: "XP-D" EXACT [NCIT:C3967]
synonym: "XP4" EXACT ABBREVIATION [DOID:0110845]
synonym: "XP4 xeroderma pigmentosum VIII" RELATED [OMIM:278730]
synonym: "XP4 xeroderma pigmentosum VIII, formerly" RELATED [OMIM:278730]
synonym: "XP8" EXACT ABBREVIATION [DOID:0110845]
synonym: "XPD" EXACT ABBREVIATION [DOID:0110845, MONDO:Lexical, OMIM:278730]
synonym: "XPDC" EXACT ABBREVIATION [DOID:0110845]
synonym: "XPH" EXACT ABBREVIATION [DOID:0110845]
xref: DOID:0110845 {source="MONDO:equivalentTo"}
xref: GARD:16452 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="DOID:0110845"}
xref: MEDGEN:75656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562591 {source="MONDO:equivalentTo"}
xref: NCIT:C3967 {source="MONDO:equivalentTo"}
xref: OMIM:278730 {source="DOID:0110845", source="MONDO:equivalentTo"}
xref: Orphanet:220295 {source="OMIM:278730"}
xref: Orphanet:276258 {source="MONDO:equivalentObsolete", source="OMIM:278730"}
xref: Orphanet:910 {source="OMIM:278730"}
xref: SCTID:68637004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268138 {source="MEDGEN:75656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex
is_a: MONDO:0019600 {source="DC-OMIM:278730", source="DOID:0110845", source="MESH:C562591", source="MONDO:Redundant", source="NCIT:C3967"} ! xeroderma pigmentosum
intersection_of: MONDO:0019600 ! xeroderma pigmentosum
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 ! ERCC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 {source="MONDO:mim2gene_medgen"} ! ERCC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010213
name: xeroderma pigmentosum group E
def: "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." [NCIT:C114771]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "xeroderma pigmentosum 5" RELATED [OMIM:278740]
synonym: "xeroderma pigmentosum group E" EXACT CLINGEN_LABEL []
synonym: "xeroderma pigmentosum group type E" EXACT [DOID:0110846, MONDORULE:1]
synonym: "xeroderma pigmentosum V" EXACT [DOID:0110846]
synonym: "xeroderma pigmentosum, complementation group E" RELATED [OMIM:278740]
synonym: "xeroderma pigmentosum, complementation group type E" EXACT [MONDORULE:1, OMIM:278740]
synonym: "xeroderma pigmentosum, group E, DDB-negative subtype" EXACT [OMIM:278740, OMIM:genemap2]
synonym: "xeroderma pigmentosum, type 5" RELATED [GARD:0005627]
synonym: "XP group E" EXACT [DOID:0110846]
synonym: "XP, Group E" RELATED [OMIM:278740]
synonym: "XP-E" EXACT [NCIT:C114771]
synonym: "XP5" EXACT ABBREVIATION [DOID:0110846]
synonym: "XPE" EXACT ABBREVIATION [DOID:0110846]
synonym: "XPe" RELATED [OMIM:278740]
xref: DOID:0110846 {source="MONDO:equivalentTo"}
xref: GARD:5627 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="DOID:0110846"}
xref: MEDGEN:341219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564732 {source="MONDO:equivalentTo"}
xref: NCIT:C114771 {source="MONDO:equivalentTo"}
xref: OMIM:278740 {source="DOID:0110846", source="MONDO:equivalentTo"}
xref: Orphanet:276261 {source="MONDO:equivalentObsolete", source="OMIM:278740"}
xref: Orphanet:910 {source="OMIM:278740"}
xref: SCTID:56048001 {source="MONDO:equivalentTo"}
xref: UMLS:C1848411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341219"}
is_a: MONDO:0019600 {source="DC-OMIM:278740", source="DOID:0110846", source="MESH:C564732", source="NCIT:C114771"} ! xeroderma pigmentosum
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2718 {source="MONDO:mim2gene_medgen"} ! DDB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010214
name: xeroderma pigmentosum variant type
def: "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." [Orphanet:90342]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90342"}
subset: orphanet_rare {source="Orphanet:90342"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "photosensitivity with defective DNA synthesis" EXACT [DOID:0110847, OMIM:278750]
synonym: "xeroderma pigmentosum variant" RELATED [Orphanet:90342]
synonym: "xeroderma pigmentosum variant type" EXACT CLINGEN_LABEL []
synonym: "xeroderma pigmentosum with normal DNA repair rates" EXACT [DOID:0110847, OMIM:278750]
synonym: "xeroderma pigmentosum, variant type" RELATED [MONDO:Lexical, OMIM:278750]
synonym: "XPV" EXACT ABBREVIATION [DOID:0110847, MONDO:Lexical, OMIM:278750, Orphanet:90342]
xref: DOID:0110847 {source="MONDO:equivalentTo"}
xref: GARD:5630 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="DOID:0110847", source="Orphanet:90342", source="Orphanet:90342/attributed", source="Orphanet:90342/ntbt"}
xref: MEDGEN:376352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536766 {source="MONDO:equivalentTo", source="Orphanet:90342", source="Orphanet:90342/e"}
xref: NCIT:C141367 {source="MONDO:equivalentTo"}
xref: OMIM:278750 {source="MONDO:equivalentTo", source="DOID:0110847", source="Orphanet:90342", source="Orphanet:90342/e"}
xref: Orphanet:90342 {source="MONDO:equivalentTo", source="OMIM:278750"}
xref: Orphanet:910 {source="OMIM:278750"}
xref: UMLS:C1848410 {source="MEDGEN:376352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019600 {source="DC-OMIM:278750", source="DOID:0110847", source="MESH:C536766", source="NCIT:C141367", source="Orphanet:90342"} ! xeroderma pigmentosum
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9181 {source="MONDO:mim2gene_medgen"} ! POLH
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type" xsd:anyURI {source="GARD:0005630"}

[Term]
id: MONDO:0010215
name: xeroderma pigmentosum group F
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5628", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ERCC4 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xeroderma pigmentosum 6" RELATED [OMIM:278760]
synonym: "xeroderma pigmentosum caused by mutation in ERCC4" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum group F" EXACT CLINGEN_LABEL []
synonym: "xeroderma pigmentosum group type F" EXACT [DOID:0110848, MONDORULE:1]
synonym: "xeroderma pigmentosum VI" EXACT [DOID:0110848]
synonym: "xeroderma pigmentosum, complementation group F" RELATED [MONDO:Lexical, OMIM:278760]
synonym: "xeroderma pigmentosum, complementation group type F" EXACT [MONDORULE:1, OMIM:278760]
synonym: "xeroderma pigmentosum, group F" EXACT [OMIM:278760, OMIM:genemap2]
synonym: "xeroderma pigmentosum, type 6" RELATED [GARD:0005628]
synonym: "xeroderma pigmentosum, type F/Cockayne syndrome" RELATED [OMIM:278760]
synonym: "XP group F" EXACT [DOID:0110848, OMIM:278760]
synonym: "XP, group F" EXACT [OMIM:278760]
synonym: "XP-F" EXACT [NCIT:C3968]
synonym: "XP6" EXACT ABBREVIATION [DOID:0110848]
synonym: "XPF" EXACT ABBREVIATION [DOID:0110848, MONDO:Lexical, OMIM:278760]
xref: DOID:0110848 {source="MONDO:equivalentTo"}
xref: GARD:5628 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="DOID:0110848"}
xref: MEDGEN:120612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562592 {source="MONDO:equivalentTo"}
xref: NCIT:C3968 {source="MONDO:equivalentTo"}
xref: OMIM:278760 {source="DOID:0110848", source="MONDO:equivalentTo"}
xref: Orphanet:220295 {source="OMIM:278760"}
xref: Orphanet:276264 {source="MONDO:equivalentObsolete", source="OMIM:278760"}
xref: Orphanet:910 {source="OMIM:278760"}
xref: SCTID:42530008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120612"}
is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex
is_a: MONDO:0019600 {source="DC-OMIM:278760", source="DOID:0110848", source="MESH:C562592", source="MONDO:Redundant", source="NCIT:C3968"} ! xeroderma pigmentosum
intersection_of: MONDO:0019600 ! xeroderma pigmentosum
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 ! ERCC4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 {source="MONDO:mim2gene_medgen"} ! ERCC4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010216
name: xeroderma pigmentosum group G
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." [MONDO:patterns/disease_series_by_gene]
comment: placement based on OMIM phenotypic series 214150. {source="OMIM:278780"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ERCC5 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xeroderma pigmentosum 7" RELATED [OMIM:278780]
synonym: "xeroderma pigmentosum caused by mutation in ERCC5" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum complementation group G" RELATED [GARD:0005629]
synonym: "xeroderma pigmentosum group G" EXACT CLINGEN_LABEL []
synonym: "xeroderma pigmentosum group type G" EXACT [DOID:0110849, MONDORULE:1]
synonym: "xeroderma pigmentosum type 7" RELATED [GARD:0005629]
synonym: "xeroderma pigmentosum VII" EXACT [DOID:0110849]
synonym: "xeroderma pigmentosum, complementation group G" RELATED [MONDO:Lexical, OMIM:278780]
synonym: "xeroderma pigmentosum, complementation group type G" EXACT [MONDORULE:1, OMIM:278780]
synonym: "xeroderma pigmentosum, group G" EXACT [OMIM:278780, OMIM:genemap2]
synonym: "xeroderma pigmentosum, group G/Cockayne syndrome" EXACT [OMIM:278780, OMIM:genemap2]
synonym: "xeroderma pigmentosum, type G/Cockayne syndrome" RELATED [OMIM:278780]
synonym: "XP group G" EXACT [DOID:0110849]
synonym: "XP, Group G" RELATED [OMIM:278780]
synonym: "XP-G" EXACT [NCIT:C3969]
synonym: "XP7" EXACT ABBREVIATION [DOID:0110849]
synonym: "XPG" EXACT ABBREVIATION [DOID:0110849, MONDO:Lexical, OMIM:278780]
xref: DOID:0110849 {source="MONDO:equivalentTo"}
xref: GARD:5629 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="DOID:0110849"}
xref: MEDGEN:75657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562593 {source="MONDO:equivalentTo"}
xref: NCIT:C3969 {source="MONDO:equivalentTo"}
xref: OMIM:278780 {source="MONDO:equivalentTo", source="DOID:0110849"}
xref: Orphanet:1466 {source="OMIM:278780"}
xref: Orphanet:191 {source="OMIM:278780"}
xref: Orphanet:220295 {source="OMIM:278780"}
xref: Orphanet:276267 {source="OMIM:278780", source="MONDO:equivalentObsolete"}
xref: Orphanet:910 {source="OMIM:278780"}
xref: SCTID:36454001 {source="MONDO:equivalentTo"}
xref: UMLS:C0268141 {source="MEDGEN:75657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008926 {source="DC-OMIM:278780"} ! COFS syndrome
is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex
is_a: MONDO:0019600 {source="DC-OMIM:278780", source="DOID:0110849", source="MESH:C562593", source="MONDO:Redundant", source="NCIT:C3969"} ! xeroderma pigmentosum
intersection_of: MONDO:0019600 ! xeroderma pigmentosum
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3437 ! ERCC5
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:278780"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3437 {source="MONDO:mim2gene_medgen"} ! ERCC5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010217
name: de Sanctis-Cacchione syndrome
def: "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." [NCIT:C84666]
subset: gard_rare {source="GARD:8276", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1035"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "De Sanctis Cacchione Syndrome" EXACT [NORD:1035]
synonym: "de Sanctis-Cacchione syndrome" EXACT [OMIM:278800]
synonym: "xerodermic idiocy" RELATED [GARD:0008276]
xref: DOID:0112158 {source="MONDO:equivalentTo"}
xref: GARD:8276 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535992 {source="MONDO:equivalentTo"}
xref: NCIT:C84666 {source="MONDO:equivalentTo"}
xref: NORD:1035 {source="MONDO:NORD"}
xref: OMIM:278800 {source="MONDO:equivalentTo"}
xref: Orphanet:1569 {source="MONDO:equivalentObsolete", source="OMIM:278800"}
xref: SCTID:414673004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75550"}
is_a: MONDO:0002254 {source="NCIT:C84666"} ! syndromic disease
is_a: MONDO:0003847 {source="MESH:C535992/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome" xsd:anyURI {source="GARD:0008276"}

[Term]
id: MONDO:0010218
name: 46,XX sex reversal 2
subset: gard_rare {source="GARD:15249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XX SEX reversal 2" RELATED [OMIM:278850]
synonym: "46,XX sex reversal 2" EXACT [MONDO:Lexical, OMIM:278850]
synonym: "46,XX Sex reversal type 2" EXACT [MONDORULE:1, OMIM:278850]
synonym: "46XX sex reversal 2" EXACT [OMIM:278850, OMIM:genemap2]
synonym: "chromosome 17Q24 Duplication syndrome" RELATED [OMIM:278850]
synonym: "SRXX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:278850]
xref: DOID:0111763 {source="MONDO:equivalentTo"}
xref: GARD:15249 {source="MONDO:GARD"}
xref: MEDGEN:411414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:278850 {source="MONDO:equivalentTo"}
xref: Orphanet:393 {source="OMIM:278850"}
xref: UMLS:C2749215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411414"}
is_a: MONDO:0100249 {source="Orphanet:393/btnt"} ! 46,XX testicular disorder of sex development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010219
name: xylosidase deficiency
synonym: "xylosidase deficiency" EXACT [OMIM:278900]
xref: MEDGEN:336338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564730 {source="MONDO:equivalentTo"}
xref: OMIM:278900 {source="MONDO:equivalentTo"}
xref: UMLS:C1848407 {source="MEDGEN:336338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564730/inferred"} ! hereditary disease

[Term]
id: MONDO:0010220
name: Young syndrome
def: "Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections." [Orphanet:3471]
subset: gard_rare {source="GARD:341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3471"}
subset: orphanet_rare {source="Orphanet:3471"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "azoospermia obstructive and chronic sinopulmonary infections" RELATED [GARD:0000341]
synonym: "azoospermia, obstructive, and chronic sinopulmonary infections" RELATED [OMIM:279000]
synonym: "azoospermia-sinopulmonary infections syndrome" EXACT [Orphanet:3471]
synonym: "Barry Perkins Young syndrome" RELATED [GARD:0000341]
synonym: "Barry-Perkins-Young syndrome" RELATED [OMIM:279000]
synonym: "sinusitis-infertility syndrome" RELATED [OMIM:279000]
synonym: "young syndrome" EXACT [OMIM:279000]
xref: GARD:341 {source="MONDO:GARD"}
xref: ICD10CM:N46 {source="Orphanet:3471/attributed", source="Orphanet:3471/ntbt", source="Orphanet:3471"}
xref: icd11.foundation:1628320490 {source="MONDO:equivalentTo", source="Orphanet:3471"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063689 {source="Orphanet:3471/e", source="Orphanet:3471"}
xref: MEDGEN:137934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536718 {source="Orphanet:3471/e", source="MONDO:equivalentTo", source="Orphanet:3471"}
xref: OMIM:279000 {source="Orphanet:3471/e", source="MONDO:equivalentTo", source="Orphanet:3471"}
xref: Orphanet:3471 {source="OMIM:279000", source="MONDO:equivalentTo"}
xref: SCTID:233666007 {source="MONDO:equivalentTo"}
xref: UMLS:C0340037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137934"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:3471"} ! respiratory system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/341/young-syndrome" xsd:anyURI {source="GARD:0000341"}

[Term]
id: MONDO:0010221
name: CHIME syndrome
def: "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." [Orphanet:3474]
subset: gard_rare {source="GARD:310", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3474"}
subset: ordo_malformation_syndrome {source="Orphanet:3474"}
subset: orphanet_rare {source="Orphanet:3474"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHIME" RELATED DEPRECATED [MONDO:Lexical, OMIM:280000]
synonym: "CHIME syndrome" EXACT [OMIM:280000]
synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome" RELATED [MONDO:Lexical, OMIM:280000]
synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:280000]
synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT [Orphanet:3474]
synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT [Orphanet:3474]
synonym: "glycosylphosphatidylinositol biosynthesis defect 5" RELATED [OMIM:280000]
synonym: "neuroectodermal dysplasia, CHIME type" EXACT [Orphanet:3474]
synonym: "neuroectodermal syndrome, Zunich type" EXACT [Orphanet:3474]
synonym: "PIGL-CDG" EXACT [Orphanet:3474]
synonym: "Zunich neuroectodermal syndrome" RELATED [OMIM:280000]
synonym: "Zunich-Kaye syndrome" EXACT [Orphanet:3474]
xref: DOID:0112152 {source="MONDO:equivalentTo"}
xref: GARD:310 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3474", source="Orphanet:3474/attributed", source="Orphanet:3474/ntbt"}
xref: MEDGEN:341214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536729 {source="MONDO:equivalentTo"}
xref: OMIM:280000 {source="Orphanet:3474", source="MONDO:equivalentTo", source="Orphanet:3474/e"}
xref: Orphanet:3474 {source="MONDO:equivalentTo", source="OMIM:280000"}
xref: SCTID:720639008 {source="MONDO:equivalentTo"}
xref: UMLS:C1848392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341214"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005093 ! skin disorder
is_a: MONDO:0005267 {source="MONDO:0018290-obsoleted"} ! heart disorder
is_a: MONDO:0015159 {source="Orphanet:3474"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017748 {source="Orphanet:3474"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0019287 {source="MESH:C536729/inferred", source="Orphanet:3474"} ! ectodermal dysplasia syndrome
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8966 {source="MONDO:mim2gene_medgen"} ! PIGL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0010222
name: X-linked Opitz G/BBB syndrome
def: "X-linked form of Opitz G/BBB syndrome." [MONDO:patterns/x_linked]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1868"}
subset: ordo_etiological_subtype {source="Orphanet:306597"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GBBB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300000]
synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [OMIM:300000]
synonym: "hypertelorism-hypospadias syndrome" RELATED [OMIM:300000]
synonym: "Opitz Bbbg syndrome, type 1" RELATED [OMIM:300000]
synonym: "Opitz G/BBB syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "Opitz GBBB syndrome, type 1" RELATED [OMIM:300000]
synonym: "Opitz GBBB syndrome, type I" RELATED [MONDO:Lexical, OMIM:300000]
synonym: "Opitz GBBB syndrome, type I, X-linked recessive" EXACT [OMIM:300000, OMIM:genemap2]
synonym: "Opitz GBBB syndrome, X-linked" RELATED [OMIM:300000]
synonym: "Opitz syndrome" RELATED [OMIM:300000]
synonym: "Opitz syndrome, X-linked" RELATED [OMIM:300000]
synonym: "Opitz-G syndrome, type 1" RELATED [OMIM:300000]
synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:300000]
synonym: "X-linked Opitz BBB/G syndrome" EXACT [Orphanet:306597]
synonym: "X-linked Opitz G/BBB syndrome" EXACT CLINGEN_LABEL []
synonym: "X-linked Opitz syndrome" EXACT [Orphanet:306597]
synonym: "XLOS" EXACT ABBREVIATION [Orphanet:306597]
xref: ICD10CM:Q87.8 {source="Orphanet:306597/attributed", source="Orphanet:306597/ntbt", source="Orphanet:306597"}
xref: MEDGEN:424842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1868 {source="MONDO:NORD"}
xref: OMIM:300000 {source="Orphanet:306597/e", source="MONDO:equivalentTo", source="Orphanet:306597"}
xref: Orphanet:2745 {source="OMIM:300000"}
xref: Orphanet:306597 {source="MONDO:equivalentObsolete", source="OMIM:300000"}
xref: UMLS:C2936904 {source="MEDGEN:424842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017138 {source="DC-OMIM:300000", source="MONDO:Redundant", source="OMIM:300000", source="Orphanet:306597"} ! Opitz G/BBB syndrome
intersection_of: MONDO:0017138 ! Opitz G/BBB syndrome
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7095 {source="MONDO:mim2gene_medgen"} ! MID1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010223
name: ichthyosis, X-linked, without steroid sulfatase deficiency
subset: gard_rare {source="GARD:15250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ichthyosis, X-linked, without steroid sulfatase deficiency" EXACT [OMIM:300001]
xref: GARD:15250 {source="MONDO:GARD"}
xref: MEDGEN:341213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564729 {source="MONDO:equivalentTo"}
xref: OMIM:300001 {source="MONDO:equivalentTo"}
xref: Orphanet:461 {source="OMIM:300001"}
xref: UMLS:C1848387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341213"}
is_a: MONDO:0010622 {source="Orphanet:461/btnt"} ! recessive X-linked ichthyosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-no-subclass-between-genetic-disease.sparql
relationship: has_characteristic HP:0001417 {source="OMIM:300001"} ! X-linked inheritance

[Term]
id: MONDO:0010224
name: corpus callosum agenesis-abnormal genitalia syndrome
def: "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." [Orphanet:2508]
subset: gard_rare {source="GARD:4528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2508"}
subset: ordo_malformation_syndrome {source="Orphanet:2508"}
subset: orphanet_rare {source="Orphanet:2508"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACC with abnormal genitalia" RELATED [OMIM:300004]
synonym: "ACC-abnormal genitalia syndrome" EXACT [Orphanet:2508]
synonym: "corpus callosum, agenesis of, with abnormal genitalia" RELATED [OMIM:300004]
synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT [Orphanet:2508]
synonym: "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum" RELATED [GARD:0004528]
synonym: "Proud Levine Carpenter syndrome" RELATED [GARD:0004528]
synonym: "Proud syndrome" EXACT [OMIM:300004, Orphanet:2508]
synonym: "Proud-Levine-Carpenter syndrome" EXACT [Orphanet:2508]
xref: DOID:0112151 {source="MONDO:equivalentTo"}
xref: GARD:4528 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2508/attributed", source="Orphanet:2508/ntbt", source="Orphanet:2508"}
xref: MEDGEN:163217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563110 {source="MONDO:equivalentTo"}
xref: OMIM:300004 {source="Orphanet:2508/e", source="MONDO:equivalentTo", source="Orphanet:2508"}
xref: Orphanet:2508 {source="MONDO:equivalentTo", source="OMIM:300004"}
xref: SCTID:763797003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163217"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010225
name: Dent disease type 1
def: "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations." [Orphanet:93622]
subset: gard_rare {source="GARD:1804", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93622"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLCN5 Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DENT disease 1" RELATED [OMIM:300009]
synonym: "dent disease 1, X-linked recessive" EXACT [OMIM:300009, OMIM:genemap2]
synonym: "Dent disease caused by mutation in CLCN5" EXACT [MONDO:design_pattern]
synonym: "Dent disease type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:300009]
synonym: "nephrolithiasis 2" RELATED [OMIM:300009]
synonym: "nephrolithiasis type 1" EXACT [Orphanet:93622]
synonym: "nephrolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009]
synonym: "urolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009]
xref: DOID:0081453 {source="MONDO:equivalentTo"}
xref: GARD:1804 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:93622", source="Orphanet:93622/attributed", source="Orphanet:93622/ntbt"}
xref: MEDGEN:336322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538212 {source="Orphanet:93622", source="Orphanet:93622/e"}
xref: OMIM:300009 {source="MONDO:equivalentTo", source="Orphanet:93622", source="Orphanet:93622/e"}
xref: Orphanet:1652 {source="OMIM:300009"}
xref: Orphanet:93622 {source="MONDO:equivalentTo", source="OMIM:300009"}
xref: SCTID:717789008 {source="MONDO:equivalentTo"}
xref: UMLS:C1848336 {source="MEDGEN:336322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015612 {source="DC-OMIM:300009", source="MONDO:Redundant", source="OMIM:300009", source="Orphanet:93622"} ! Dent disease
intersection_of: MONDO:0015612 ! Dent disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 ! CLCN5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010226
name: 46,XY sex reversal 2
subset: gard_rare {source="GARD:9159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XY SEX reversal 2" RELATED [OMIM:300018]
synonym: "46,XY sex reversal 2" EXACT [MONDO:Lexical, OMIM:300018]
synonym: "46,XY Sex reversal type 2" EXACT [MONDORULE:1, OMIM:300018]
synonym: "46,XY Sex reversal, Dax1-related" RELATED [OMIM:300018]
synonym: "46XY sex reversal 2, dosage-sensitive" EXACT [OMIM:300018, OMIM:genemap2]
synonym: "dosage-sensitive Sex reversal" RELATED [OMIM:300018]
synonym: "SRXY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300018]
xref: DOID:0111777 {source="MONDO:equivalentTo"}
xref: GARD:9159 {source="MONDO:GARD"}
xref: MEDGEN:341190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535601 {source="MONDO:equivalentTo"}
xref: NANDO:1200404 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:300018 {source="MONDO:equivalentTo"}
xref: Orphanet:242 {source="OMIM:300018"}
xref: Orphanet:251510 {source="OMIM:300018"}
xref: UMLS:C1848296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341190"}
is_a: MONDO:0010765 {source="OMIM:300018", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7960 {source="MONDO:mim2gene_medgen"} ! NR0B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010227
name: retinitis pigmentosa 3
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Choroidoretinal Degeneration with retinal reflex in heterozygous Women" RELATED [OMIM:300029]
synonym: "cone-rod Degeneration, X-linked" RELATED [OMIM:300029]
synonym: "retinitis pigmentosa 15" RELATED [OMIM:300029]
synonym: "retinitis pigmentosa 3" EXACT [MONDO:Lexical, OMIM:300029]
synonym: "retinitis pigmentosa caused by mutation in RPGR" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 3" EXACT [DOID:0110414, MONDORULE:1, OMIM:300029]
synonym: "RP3" EXACT ABBREVIATION [DOID:0110414, MONDO:Lexical, OMIM:300029]
synonym: "RPGR retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110414 {source="MONDO:equivalentTo"}
xref: GARD:10381 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110414", source="MONDO:relatedTo"}
xref: MEDGEN:336999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564520 {source="MONDO:equivalentTo"}
xref: OMIM:300029 {source="DOID:0110414", source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:300029"}
xref: UMLS:C1845667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336999"}
is_a: MONDO:0019200 {source="DC-OMIM:300029", source="DOID:0110414", source="MESH:C564520", source="MONDO:Redundant", source="OMIM:300029"} ! retinitis pigmentosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 {source="MONDO:mim2gene_medgen"} ! RPGR

[Term]
id: MONDO:0010228
name: hearing loss, X-linked 3
subset: gard_rare {source="GARD:18095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness X-linked, DFN3" NARROW [GARD:0001707]
synonym: "deafness, X-linked 3" NARROW [MONDO:Lexical, OMIM:300030, OMIM:genemap2]
synonym: "deafness, X-linked 4, congenital sensorineural" NARROW [OMIM:300030]
synonym: "DFNX3" NARROW ABBREVIATION [MONDO:Lexical, OMIM:300030]
xref: DOID:0111736 {source="MONDO:equivalentTo"}
xref: GARD:18095 {source="MONDO:GARD"}
xref: MEDGEN:854758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564727 {source="MONDO:equivalentTo"}
xref: OMIM:300030 {source="MONDO:equivalentTo"}
xref: Orphanet:90625 {source="OMIM:300030"}
xref: UMLS:C3888089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854758"}
is_a: MONDO:0019586 {source="DC-OMIM:300030", source="OMIM:300030"} ! X-linked nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010229
name: alopecia, congenital
def: "A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common." [NCIT:C35790]
subset: gard_rare {source="GARD:1470", source="MONDO:GARD"}
subset: rare
synonym: "alopecia, congenital" EXACT [MONDO:Lexical, OMIM:300042]
synonym: "ALPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300042]
synonym: "congenital alopecia" EXACT [NCIT:C35790]
xref: GARD:1470 {source="MONDO:GARD"}
xref: MEDGEN:78581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535981 {source="MONDO:equivalentTo"}
xref: NCIT:C35790 {source="MONDO:equivalentTo"}
xref: OMIM:300042 {source="MONDO:equivalentTo"}
xref: Orphanet:700 {source="OMIM:300042"}
xref: SCTID:2965006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265992 {source="MONDO:equivalentTo", source="MEDGEN:78581", source="MONDO:MEDGEN"}
is_a: MONDO:0000005 {source="OMIM:300042"} ! alopecia, isolated
is_a: MONDO:0004907 {source="MESH:C535981", source="MONDO:Redundant", source="NCIT:C35790"} ! alopecia
is_a: MONDO:0019080 {source="Orphanet:700/btnt"} ! alopecia totalis

[Term]
id: MONDO:0010230
name: intellectual disability, X-linked 23
subset: gard_rare {source="GARD:22666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 23" EXACT [MONDO:Lexical, OMIM:300046]
synonym: "mental retardation, X-linked 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:300046]
synonym: "MRX23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300046]
xref: DOID:0112049 {source="MONDO:equivalentTo"}
xref: GARD:22666 {source="MONDO:GARD"}
xref: MEDGEN:163234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563144 {source="MONDO:equivalentTo"}
xref: OMIM:300046 {source="MONDO:equivalentTo"}
xref: UMLS:C0796229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163234"}
is_a: MONDO:0019181 {source="DC-OMIM:300046", source="OMIM:300046"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0010231
name: intellectual disability, X-linked 20
subset: gard_rare {source="GARD:22667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 20" EXACT [MONDO:Lexical, OMIM:300047]
synonym: "mental retardation, X-linked 20" RELATED DEPRECATED [MONDO:Lexical, OMIM:300047]
synonym: "MRX20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300047]
xref: DOID:0112023 {source="MONDO:equivalentTo"}
xref: GARD:22667 {source="MONDO:GARD"}
xref: MEDGEN:208677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563142 {source="MONDO:equivalentTo"}
xref: OMIM:300047 {source="MONDO:equivalentTo"}
xref: UMLS:C0796226 {source="MEDGEN:208677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300047", source="OMIM:300047"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0010232
name: intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
def: "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms." [https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked]
subset: gard_rare {source="GARD:3017", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CIIP" RELATED ABBREVIATION [GARD:0003017]
synonym: "CIIP X-linked" RELATED [GARD:0003017]
synonym: "Ciip, X-linked" RELATED [OMIM:300048]
synonym: "CIIPX" RELATED ABBREVIATION [GARD:0003017]
synonym: "congenital idiopathic intestinal pseudoobstruction" RELATED [OMIM:300048]
synonym: "congenital short bowel syndrome, X-linked" RELATED [OMIM:300048]
synonym: "congenital short bowel syndrome, X-linked recessive" EXACT [OMIM:300048, OMIM:genemap2]
synonym: "intestinal pseudoobstruction neuronal chronic idiopathic X-linked" RELATED [GARD:0003017]
synonym: "intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement" RELATED [OMIM:300048]
synonym: "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" EXACT [OMIM:300048]
synonym: "intestinal pseudoobstruction, neuronal, X-linked recessive" EXACT [OMIM:300048, OMIM:genemap2]
synonym: "Ipox" RELATED [OMIM:300048]
xref: DOID:0080681 {source="MONDO:equivalentTo"}
xref: GARD:3017 {source="MONDO:GARD"}
xref: MEDGEN:412536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535532 {source="MONDO:equivalentTo"}
xref: OMIM:300048 {source="MONDO:equivalentTo"}
xref: Orphanet:2301 {source="OMIM:300048"}
xref: Orphanet:2978 {source="OMIM:300048"}
xref: UMLS:C2746068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412536"}
is_a: MONDO:0014097 {source="Orphanet:2301/btnt"} ! congenital short bowel syndrome
is_a: MONDO:0017574 {source="Orphanet:2978/btnt"} ! chronic intestinal pseudoobstruction
relationship: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked" xsd:anyURI {source="GARD:0003017"}

[Term]
id: MONDO:0010233
name: heterotopia, periventricular, X-linked dominant
subset: gard_rare {source="GARD:7371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral periventricular nodular heterotopia" RELATED [GARD:0007371]
synonym: "BPNH" RELATED ABBREVIATION [GARD:0007371]
synonym: "heterotopia familial nodular" RELATED [GARD:0007371]
synonym: "heterotopia periventricular X-linked dominant" RELATED [GARD:0007371]
synonym: "heterotopia, familial nodular" RELATED [OMIM:300049]
synonym: "heterotopia, periventricular nodular, with Frontometaphyseal dysplasia" RELATED [OMIM:300049]
synonym: "heterotopia, periventricular, 1, X-linked dominant" EXACT [OMIM:300049, OMIM:genemap2]
synonym: "heterotopia, periventricular, Ehlers-Danlos variant" EXACT [OMIM:300049]
synonym: "heterotopia, periventricular, X-linked dominant" EXACT CLINGEN_LABEL [OMIM:300049]
synonym: "NHBP" RELATED ABBREVIATION [GARD:0007371]
synonym: "nodular heterotopia bilateral periventricular" RELATED [GARD:0007371]
synonym: "nodular heterotopia, bilateral periventricular" RELATED [OMIM:300049]
synonym: "periventricular nodular heterotopia 1" RELATED [OMIM:300049]
synonym: "periventricular nodular heterotopia 4" RELATED [OMIM:300049]
synonym: "periventricular nodular heterotopia 4, formerly" RELATED [OMIM:300049]
synonym: "PVNH1" RELATED ABBREVIATION [GARD:0007371, OMIM:300049]
synonym: "X-linked periventricular heterotopia" RELATED [GARD:0007371]
xref: GARD:7371 {source="MONDO:GARD"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:376309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300049 {source="MONDO:equivalentTo"}
xref: Orphanet:2149 {source="OMIM:300049"}
xref: Orphanet:98892 {source="OMIM:300049"}
xref: SCTID:448227009 {source="MONDO:equivalentTo"}
xref: UMLS:C1848213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376309"}
is_a: MONDO:0020341 {source="DC-OMIM:300049"} ! periventricular nodular heterotopia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010234
name: obsolete body length, mouse, human homolog
synonym: "body length, mouse, HUMAN homolog" RELATED [OMIM:300054]
xref: OMIM:300054 {source="MONDO:relatedTo"}
is_obsolete: true

[Term]
id: MONDO:0010235
name: X-linked intellectual disability-psychosis-macroorchidism syndrome
subset: gard_rare {source="GARD:3506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3077"}
subset: ordo_malformation_syndrome {source="Orphanet:3077"}
subset: orphanet_rare {source="Orphanet:3077"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual deficit, X-linked - psychosis - macroorchidism" RELATED [GARD:0003506]
synonym: "intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive" EXACT [OMIM:300055, OMIM:genemap2]
synonym: "intellectual disability psychosis macroorchidism" RELATED [GARD:0003506]
synonym: "intellectual disability with psychosis, pyramidal signs, and macroorchidism" EXACT [DOID:0060827]
synonym: "intellectual disability, X-linked 16" RELATED [OMIM:300055]
synonym: "intellectual disability, X-linked 79" RELATED [OMIM:300055]
synonym: "intellectual disability, X-linked, syndromic 13" EXACT [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055]
synonym: "intellectual disability, X-linked, syndromic type 13" EXACT [MONDORULE:2, OMIM:300055]
synonym: "intellectual disability, X-linked, with spasticity" RELATED [OMIM:300055]
synonym: "Lindsay-Burn syndrome" EXACT [DOID:0060827, Orphanet:3077]
synonym: "mental retardation psychosis macroorchidism" RELATED DEPRECATED [GARD:0003506]
synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT DEPRECATED [DOID:0060827]
synonym: "mental retardation, X-linked 16" RELATED DEPRECATED [OMIM:300055]
synonym: "mental retardation, X-linked 79" RELATED DEPRECATED [OMIM:300055]
synonym: "mental retardation, X-linked, syndromic 13" EXACT DEPRECATED [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055]
synonym: "mental retardation, X-linked, syndromic type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:300055]
synonym: "mental retardation, X-linked, with spasticity" RELATED DEPRECATED [OMIM:300055]
synonym: "MRXS13" EXACT ABBREVIATION [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055]
synonym: "PPM-X" EXACT [DOID:0060827, Orphanet:3077]
synonym: "PPM-X syndrome" RELATED [GARD:0003506]
synonym: "X-linked intellectual disability 79" EXACT [DOID:0060827]
synonym: "X-linked intellectual disability with spasticity" EXACT [DOID:0060827]
synonym: "X-linked mental retardation 79" EXACT DEPRECATED [DOID:0060827]
synonym: "X-linked mental retardation with spasticity" EXACT DEPRECATED [DOID:0060827]
xref: DOID:0060827 {source="MONDO:equivalentTo"}
xref: GARD:3506 {source="MONDO:GARD"}
xref: ICD10CM:F71.1 {source="Orphanet:3077/attributed", source="Orphanet:3077/ntbt", source="Orphanet:3077", source="DOID:0060827"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300055 {source="Orphanet:3077/e", source="MONDO:equivalentTo", source="GARD:0003506", source="Orphanet:3077", source="DOID:0060827"}
xref: Orphanet:3077 {source="OMIM:300055", source="MONDO:equivalentTo", source="GARD:0003506", source="DOID:0060827"}
xref: SCTID:702356009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163232"}
is_a: MONDO:0020119 {source="DC-OMIM:300055", source="DOID:0060827", source="OMIM:300055", source="Orphanet:3077", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome" xsd:anyURI {source="GARD:0003506"}

[Term]
id: MONDO:0010236
name: intellectual disability, X-linked 14
subset: gard_rare {source="GARD:8557", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 14" EXACT [MONDO:Lexical, OMIM:300062]
synonym: "intellectual disability, X-linked nonspecific, type 14" RELATED [GARD:0008557]
synonym: "mental retardation, X-linked 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:300062]
synonym: "mental retardation, X-linked nonspecific, type 14" RELATED DEPRECATED [GARD:0008557]
synonym: "MRX14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300062]
xref: DOID:0112027 {source="MONDO:equivalentTo"}
xref: GARD:8557 {source="MONDO:GARD"}
xref: MEDGEN:163231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537454 {source="MONDO:equivalentTo"}
xref: OMIM:300062 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300062"}
xref: UMLS:C0796220 {source="MEDGEN:163231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300062", source="OMIM:300062"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0010237
name: X-linked intellectual disability-plagiocephaly syndrome
def: "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." [Orphanet:2898]
subset: gard_rare {source="GARD:2765", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2898"}
subset: ordo_malformation_syndrome {source="Orphanet:2898"}
subset: orphanet_rare {source="Orphanet:2898"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hyde Forster McCarthy Berry syndrome" RELATED [GARD:0002765]
synonym: "Hyde Forster-McCarthy-Berry syndrome" EXACT [Orphanet:2898]
synonym: "intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" RELATED [GARD:0004377]
synonym: "intellectual disability, X-linked Hyde-Forster type" RELATED [GARD:0004377]
synonym: "intellectual disability, X-linked, Hyde-Forster type" RELATED [OMIM:300064]
synonym: "intellectual disability, X-linked, with craniofacial dysmorphism" RELATED [OMIM:300064]
synonym: "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" RELATED DEPRECATED [GARD:0004377]
synonym: "mental retardation, X-linked Hyde-Forster type" RELATED DEPRECATED [GARD:0004377]
synonym: "mental retardation, X-linked, Hyde-Forster type" RELATED DEPRECATED [OMIM:300064]
synonym: "mental retardation, X-linked, with craniofacial dysmorphism" RELATED DEPRECATED [OMIM:300064]
synonym: "plagiocephaly and X-linked intellectual disability" RELATED [GARD:0004377]
synonym: "plagiocephaly and X-linked mental retardation" RELATED DEPRECATED [GARD:0004377]
xref: GARD:2765 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2898", source="Orphanet:2898/attributed", source="Orphanet:2898/ntbt"}
xref: MEDGEN:419824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537512 {source="MONDO:equivalentTo"}
xref: OMIM:300064 {source="GARD:0004377", source="MONDO:equivalentTo", source="Orphanet:2898", source="Orphanet:2898/e"}
xref: Orphanet:2898 {source="OMIM:300064", source="MONDO:equivalentTo"}
xref: SCTID:719812008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931516 {source="MEDGEN:419824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2898"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:2898"} ! syndromic craniosynostosis
is_a: MONDO:0020119 {source="Orphanet:2898", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010238
name: hearing loss, X-linked 4
def: "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, nonsyndromic sensorineural progressive 6" NARROW [OMIM:300066]
synonym: "deafness, X-linked 4" NARROW [MONDO:Lexical, OMIM:300066]
synonym: "deafness, X-linked 4, X-linked dominant" NARROW [OMIM:300066, OMIM:genemap2]
synonym: "deafness, X-linked 6, progressive" RELATED [OMIM:300066]
synonym: "deafness, X-linked type 4" NARROW [MONDORULE:1, OMIM:300066]
synonym: "DFNX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300066]
synonym: "SMPX X-linked nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked nonsyndromic deafness caused by mutation in SMPX" NARROW [MONDO:design_pattern]
xref: DOID:0111735 {source="MONDO:equivalentTo"}
xref: GARD:18096 {source="MONDO:GARD"}
xref: MEDGEN:376307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564723 {source="MONDO:equivalentTo"}
xref: OMIM:300066 {source="MONDO:equivalentTo"}
xref: Orphanet:90625 {source="OMIM:300066"}
xref: UMLS:C1848204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376307"}
is_a: MONDO:0019586 {source="DC-OMIM:300066", source="MONDO:Redundant", source="OMIM:300066"} ! X-linked nonsyndromic hearing loss
intersection_of: MONDO:0019586 ! X-linked nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11122 ! SMPX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11122 {source="MONDO:mim2gene_medgen"} ! SMPX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010239
name: lissencephaly type 1 due to doublecortin gene mutation
def: "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients." [Orphanet:2148]
subset: gard_rare {source="GARD:6914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2148"}
subset: orphanet_rare {source="Orphanet:2148"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dc syndrome" RELATED [OMIM:300067]
synonym: "Double cortex syndrome" RELATED [OMIM:300067]
synonym: "lissencephaly and agenesis of corpus callosum" RELATED [GARD:0006914, OMIM:300067]
synonym: "lissencephaly type 1 due to doublecortin gene mutation" EXACT CLINGEN_LABEL []
synonym: "lissencephaly X-linked" RELATED [GARD:0006914]
synonym: "lissencephaly, X-linked" EXACT [OMIM:300067, OMIM:genemap2]
synonym: "lissencephaly, X-linked, 1" RELATED [MONDO:Lexical, OMIM:300067]
synonym: "lissencephaly, X-linked, type 1" EXACT [MONDORULE:1, OMIM:300067]
synonym: "LISX" RELATED ABBREVIATION [GARD:0006914]
synonym: "LISX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300067]
synonym: "subcortical band heterotopia, X-linked" RELATED [OMIM:300067]
synonym: "subcortical laminal heterotopia, X-linked" EXACT [OMIM:300067, OMIM:genemap2]
synonym: "subcortical laminar heterotopia, X-linked" RELATED [OMIM:300067]
synonym: "subcortical laminar heterotopia, X-linked," RELATED [GARD:0006914]
synonym: "X-linked lissencephaly" RELATED [GARD:0006914]
synonym: "X-linked lissencephaly type 1" EXACT [Orphanet:2148]
synonym: "XLIS" RELATED ABBREVIATION [GARD:0006914]
synonym: "Xlis" RELATED [OMIM:300067]
xref: DOID:0112239 {source="MONDO:equivalentTo"}
xref: GARD:6914 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:2148/attributed", source="Orphanet:2148/ntbt", source="Orphanet:2148"}
xref: MEDGEN:1644310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300067 {source="Orphanet:2148", source="GARD:0006914", source="MONDO:equivalentTo", source="Orphanet:2148/e"}
xref: Orphanet:2148 {source="OMIM:300067", source="MONDO:equivalentTo"}
xref: Orphanet:99796 {source="OMIM:300067"}
xref: SCTID:715780008 {source="MONDO:equivalentTo"}
xref: UMLS:C4551968 {source="MONDO:equivalentTo", source="MEDGEN:1644310", source="MONDO:MEDGEN"}
is_a: MONDO:0015146 {source="Orphanet:2148"} ! classic lissencephaly
is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:300067", source="Orphanet:2148/inferred"} ! lissencephaly spectrum disorders
is_a: MONDO:0020491 ! subcortical band heterotopia
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2148", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2714 {source="MONDO:mim2gene_medgen"} ! DCX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked" xsd:anyURI {source="GARD:0006914"}

[Term]
id: MONDO:0010240
name: obsolete androgen insensitivity syndrome
is_obsolete: true
replaced_by: MONDO:0019154

[Term]
id: MONDO:0010241
name: congenital stationary night blindness 2A
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15251", source="MONDO:GARD"}
subset: rare
synonym: "CACNA1F congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital stationary night blindness 2A X-linked" EXACT [DOID:0110871]
synonym: "congenital stationary night blindness caused by mutation in CACNA1F" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 2A" EXACT [DOID:0110871, MONDORULE:4]
synonym: "CSNB, incomplete, X-linked" EXACT [OMIM:300071]
synonym: "CSNB2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300071]
synonym: "night blindness, congenital stationary (incomplete), 2A, X-linked" EXACT [OMIM:300071, OMIM:genemap2]
synonym: "night blindness, congenital stationary, type 2" RELATED [OMIM:300071]
synonym: "night blindness, congenital stationary, type 2A" RELATED [MONDO:Lexical, OMIM:300071]
xref: DOID:0110871 {source="MONDO:equivalentTo"}
xref: GARD:15251 {source="MONDO:GARD"}
xref: MEDGEN:376299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300071 {source="MONDO:equivalentTo", source="DOID:0110871"}
xref: UMLS:C1848172 {source="MEDGEN:376299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:300071", source="DOID:0110871", source="MONDO:Entailed", source="OMIM:300071"} ! congenital stationary night blindness
is_a: MONDO:0044749 {source="https://orcid.org/0000-0002-6601-2165"} ! X-linked congenital stationary night blindness
is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA1F-related retinopathy
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 ! CACNA1F
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0010242
name: fetal akinesia syndrome, X-linked
subset: gard_rare {source="GARD:2293", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fetal akinesia syndrome X-linked" RELATED [GARD:0002293]
synonym: "fetal akinesia syndrome, X-linked" EXACT [OMIM:300073]
synonym: "foetal akinesia syndrome X-linked" RELATED OMO:0003005 []
synonym: "polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures" RELATED [GARD:0002293]
synonym: "X-linked form of fetal akinesia syndrome" RELATED [GARD:0002293]
synonym: "X-linked form of foetal akinesia syndrome" RELATED OMO:0003005 []
xref: DOID:0081043 {source="MONDO:equivalentTo"}
xref: GARD:2293 {source="MONDO:GARD"}
xref: MEDGEN:341166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537921 {source="MONDO:equivalentTo"}
xref: OMIM:300073 {source="MONDO:equivalentTo"}
xref: Orphanet:994 {source="OMIM:300073"}
xref: UMLS:C1848171 {source="MONDO:equivalentTo", source="MEDGEN:341166", source="MONDO:MEDGEN"}
is_a: MONDO:0008824 {source="Orphanet:994/btnt"} ! fetal akinesia deformation sequence
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked" xsd:anyURI {source="GARD:0002293"}

[Term]
id: MONDO:0010243
name: X-linked immunoneurologic disorder
def: "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." [Orphanet:2571]
subset: gard_rare {source="GARD:274", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2571"}
subset: orphanet_rare {source="Orphanet:2571"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunoneurologic disorder, X-linked" EXACT [OMIM:300076]
synonym: "neonatal death immune deficiency" EXACT [GARD:0000274]
synonym: "Woods Black Norbury syndrome" EXACT [GARD:0000274]
synonym: "Woods-Black-Norbury syndrome" EXACT [OMIM:300076, Orphanet:2571]
synonym: "Woods-Black-Norbury syndrome, X-linked dominant" EXACT [OMIM:300076, OMIM:genemap2]
synonym: "X-linked immunoneurological disorder" EXACT [GARD:0000274]
xref: GARD:274 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="Orphanet:2571/attributed", source="Orphanet:2571/ntbt", source="Orphanet:2571"}
xref: MEDGEN:341162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536743 {source="MONDO:equivalentTo"}
xref: OMIM:300076 {source="Orphanet:2571/e", source="MONDO:equivalentTo", source="Orphanet:2571"}
xref: Orphanet:2571 {source="OMIM:300076", source="MONDO:equivalentTo"}
xref: SCTID:719827008 {source="MONDO:equivalentTo"}
xref: UMLS:C1848144 {source="MEDGEN:341162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-7941-2961"} ! nervous system disorder
relationship: has_characteristic HP:0001417 ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0010244
name: CGF1
synonym: "CGF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300082]
synonym: "cognitive function 1, social" EXACT [MONDO:Lexical, OMIM:300082]
synonym: "social cognition" EXACT [OMIM:300082, OMIM:genemap2]
xref: MEDGEN:338395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300082 {source="MONDO:equivalentTo"}
xref: UMLS:C1848140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338395"}
is_a: MONDO:0003847 {source="OMIM:300082/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010245
name: X-linked cone-rod dystrophy 2
subset: gard_rare {source="GARD:1462", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COD2" EXACT ABBREVIATION [DOID:0111006, OMIM:300085]
synonym: "cone dystrophy 2, X-linked" EXACT [OMIM:300085]
synonym: "cone dystrophy X-linked 2" EXACT [GARD:0001462]
synonym: "cone dystrophy, progressive X-linked, 2" EXACT [OMIM:300085, OMIM:genemap2]
synonym: "cone-rod dystrophy X-linked 2" EXACT [GARD:0001462]
synonym: "cone-rod dystrophy, X-linked, 2" EXACT [MONDO:Lexical, OMIM:300085]
synonym: "CORDX2" EXACT ABBREVIATION [DOID:0111006, MONDO:Lexical, OMIM:300085]
synonym: "X-linked cone dystrophy 2" EXACT [DOID:0111006]
synonym: "X-linked cone-rod dystrophy type 2" EXACT [DOID:0111006, MONDORULE:1]
xref: DOID:0111006 {source="MONDO:equivalentTo"}
xref: GARD:1462 {source="MONDO:GARD"}
xref: MEDGEN:341161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564717 {source="MONDO:equivalentTo"}
xref: OMIM:300085 {source="DOID:0111006", source="MONDO:equivalentTo"}
xref: Orphanet:1871 {source="OMIM:300085", source="MONDO:relatedTo"}
xref: UMLS:C1848139 {source="MEDGEN:341161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DOID:0111006", source="MONDO:Redundant", source="MONDO:indirect"} ! cone-rod dystrophy
relationship: has_characteristic HP:0001417 {source="OMIM:300085"} ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2" xsd:anyURI {source="GARD:0001462"}

[Term]
id: MONDO:0010246
name: developmental and epileptic encephalopathy, 9
def: "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." [Orphanet:101039]
subset: gard_rare {source="GARD:10806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101039"}
subset: orphanet_rare {source="Orphanet:101039"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE9" EXACT ABBREVIATION [OMIM:300088]
synonym: "developmental and epileptic encephalopathy 9" EXACT [OMIM:300088, OMIM:genemap2]
synonym: "developmental and epileptic encephalopathy, 9" EXACT CLINGEN_LABEL []
synonym: "early infantile epileptic encephalopathy 9" EXACT [OMIM:300088]
synonym: "early infantile epileptic encephalopathy caused by mutation in PCDH19" EXACT [MONDO:design_pattern]
synonym: "early infantile epileptic encephalopathy type 9" EXACT [DOID:0060848, MONDORULE:1]
synonym: "early infantile female-limited epilecptic encephalopathy" EXACT [DOID:0060848]
synonym: "EFMR" EXACT ABBREVIATION [DOID:0060848, Orphanet:101039]
synonym: "EIEE9" EXACT ABBREVIATION [DOID:0060848, MONDO:Lexical, OMIM:300088]
synonym: "epilepsy and intellectual disability limited to females" RELATED [GARD:0010806]
synonym: "epilepsy and mental retardation limited to females" RELATED DEPRECATED [GARD:0010806]
synonym: "epilepsy, female restricted, with intellectual disability" RELATED [GARD:0010806]
synonym: "epilepsy, female restricted, with mental retardation" RELATED DEPRECATED [GARD:0010806]
synonym: "epilepsy, female-restricted, with intellectual disability" RELATED [OMIM:300088]
synonym: "epilepsy, female-restricted, with mental retardation" RELATED DEPRECATED [OMIM:300088]
synonym: "epileptic encephalopathy, early infantile, 9" EXACT [MONDO:Lexical, OMIM:300088]
synonym: "epileptic encephalopathy, early infantile, type 9" EXACT [MONDORULE:1, OMIM:300088]
synonym: "familial epilepsy and intellectual disability limited to females" EXACT [Orphanet:101039]
synonym: "familial epilepsy and mental retardation limited to females" EXACT DEPRECATED [Orphanet:101039]
synonym: "female restricted epilepsy with intellectual deficit" RELATED [GARD:0010806]
synonym: "female restricted epilepsy with intellectual disability" EXACT [DOID:0060848, Orphanet:101039]
synonym: "female restricted epilepsy with mental retardation" EXACT DEPRECATED [DOID:0060848]
synonym: "Juberg Hellman syndrome" EXACT [DOID:0060848]
synonym: "Juberg-Hellman syndrome" EXACT [OMIM:300088, Orphanet:101039]
synonym: "PCDH19 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PCDH19-related female-limited epilepsy" RELATED [GARD:0010806]
synonym: "PCDH19-related FLE" RELATED [GARD:0010806]
synonym: "PCDH19-related infantile epileptic encephalopathy" RELATED [GARD:0010806]
xref: DOID:0060848 {source="MONDO:equivalentTo"}
xref: GARD:10806 {source="MONDO:GARD"}
xref: MEDGEN:338393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564715 {source="MONDO:equivalentTo"}
xref: NANDO:1200599 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:300088 {source="MONDO:equivalentTo", source="Orphanet:101039", source="DOID:0060848", source="Orphanet:101039/e"}
xref: Orphanet:101039 {source="OMIM:300088", source="MONDO:equivalentTo", source="DOID:0060848"}
xref: UMLS:C1848137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338393"}
is_a: MONDO:0016160 {source="Orphanet:101039"} ! X-linked intellectual disability-epilepsy syndrome
is_a: MONDO:0100062 {source="DC-OMIM:300088", source="DOID:0060848", source="MONDO:Redundant", source="OMIM:300088"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14270 ! PCDH19
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14270 {source="MONDO:mim2gene_medgen"} ! PCDH19
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010247
name: X-linked cerebral adrenoleukodystrophy
def: "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." [Orphanet:139396]
subset: gard_rare {source="GARD:9412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:139396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Addison disease and cerebral sclerosis" RELATED [OMIM:300100]
synonym: "adrenoleukodystrophy" RELATED [MONDO:Lexical, OMIM:300100]
synonym: "adrenoleukodystrophy childhood cerebral form" RELATED [GARD:0009412]
synonym: "adrenoleukodystrophy X-linked cerebral form" RELATED [GARD:0009412]
synonym: "adrenomyeloneuropathy" RELATED [OMIM:300100]
synonym: "ALD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300100]
synonym: "ALD childhood cerebral form" RELATED [GARD:0009412]
synonym: "bronze Schilder disease" RELATED [OMIM:300100]
synonym: "childhood cerebral ALD" RELATED [GARD:0009412]
synonym: "childhood-onset cerebral X-linked adrenoleukodystrophy" RELATED [GARD:0009412]
synonym: "melanodermic leukodystrophy" RELATED [OMIM:300100]
synonym: "Siemerling-Creutzfeldt disease" RELATED [OMIM:300100]
synonym: "X-linked cerebral adrenoleukodystrophy" EXACT CLINGEN_LABEL [Orphanet:139396]
xref: GARD:9412 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:139396", source="Orphanet:139396/attributed", source="Orphanet:139396/ntbt"}
xref: MEDGEN:1708324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200166 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201246 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:139396 {source="OMIM:300100", source="MONDO:equivalentTo", source="GARD:0009412"}
xref: Orphanet:139399 {source="OMIM:300100"}
xref: Orphanet:43 {source="OMIM:300100"}
xref: UMLS:C2026514 {source="MEDGEN:1708324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018544 {source="Orphanet:139396"} ! adrenoleukodystrophy
relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:300100"} ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/61 {source="MONDO:mim2gene_medgen"} ! ABCD1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy" xsd:anyURI {source="GARD:0009412"}

[Term]
id: MONDO:0010248
name: X-linked spondyloepimetaphyseal dysplasia
def: "X-linked form of spondyloepimetaphyseal dysplasia." [MONDO:patterns/x_linked]
subset: gard_rare {source="GARD:4979", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93349"}
subset: orphanet_rare {source="Orphanet:93349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMD X-linked" RELATED [GARD:0004979]
synonym: "SEMD, X-linked" RELATED [OMIM:300106]
synonym: "SEMDX" RELATED ABBREVIATION [GARD:0004979, OMIM:300106]
synonym: "spondylo-epimetaphyseal dysplasia" RELATED [GARD:0004979]
synonym: "spondyloepimetaphyseal dysplasia X-linked" RELATED [GARD:0004979]
synonym: "spondyloepimetaphyseal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked, OMIM:300106]
synonym: "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive" EXACT [OMIM:300106, OMIM:genemap2]
xref: DOID:0112150 {source="MONDO:equivalentTo"}
xref: GARD:4979 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93349/attributed", source="Orphanet:93349/ntbt", source="Orphanet:93349"}
xref: MEDGEN:376281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564714 {source="MONDO:equivalentTo"}
xref: OMIM:300106 {source="Orphanet:93349/e", source="MONDO:equivalentTo", source="Orphanet:93349"}
xref: Orphanet:93349 {source="MONDO:equivalentTo", source="OMIM:300106"}
xref: UMLS:C1848097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376281"}
is_a: MONDO:0016761 {source="DC-OMIM:300106", source="MONDO:Entailed", source="MONDO:Redundant", source="Orphanet:93349", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1044 {source="MONDO:mim2gene_medgen"} ! BGN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked" xsd:anyURI {source="GARD:0004979"}

[Term]
id: MONDO:0010249
name: obsolete X-linked B cell surface antigen, mouse, homolog-like 1
is_obsolete: true

[Term]
id: MONDO:0010250
name: intellectual disability, X-linked 49
subset: gard_rare {source="GARD:17880", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:485350"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:485350"}
subset: rare
synonym: "CLCN4-related X-linked intellectual disability syndrome" EXACT [MONDO:0044618]
synonym: "intellectual disability, X-linked 15" EXACT [OMIM:300114]
synonym: "intellectual disability, X-linked 49" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300114]
synonym: "mental retardation, X-linked 15" EXACT DEPRECATED [OMIM:300114]
synonym: "mental retardation, X-linked 49" RELATED DEPRECATED [MONDO:Lexical, OMIM:300114]
synonym: "MRX49" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300114]
synonym: "Raynaud-Claes syndrome, X-linked dominant" EXACT [OMIM:300114, OMIM:genemap2]
xref: DOID:0112060 {source="MONDO:equivalentTo"}
xref: GARD:17880 {source="MONDO:GARD"}
xref: MEDGEN:923000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300114 {source="MONDO:equivalentTo"}
xref: Orphanet:485350 {source="MONDO:equivalentTo"}
xref: UMLS:C0796221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:923000"}
is_a: MONDO:0020119 {source="OMIM:300114", source="Orphanet:485350", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2022 {source="MONDO:mim2gene_medgen"} ! CLCN4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6328" xsd:anyURI

[Term]
id: MONDO:0010251
name: intellectual disability, X-linked 50
subset: gard_rare {source="GARD:22668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 50" EXACT [OMIM:300115, OMIM:genemap2]
synonym: "intellectual disability, X-linked 50" EXACT [MONDO:Lexical, OMIM:300115]
synonym: "mental retardation, X-linked 50" RELATED DEPRECATED [MONDO:Lexical, OMIM:300115]
synonym: "MRX50" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300115]
xref: DOID:0112029 {source="MONDO:equivalentTo"}
xref: GARD:22668 {source="MONDO:GARD"}
xref: MEDGEN:376278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564713 {source="MONDO:equivalentTo"}
xref: OMIM:300115 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300115"}
xref: UMLS:C1848087 {source="MONDO:equivalentTo", source="MEDGEN:376278", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300115", source="OMIM:300115"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010252
name: intellectual disability, X-linked, with panhypopituitarism
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked, with isolated growth hormone deficiency" EXACT [OMIM:300123, OMIM:genemap2]
synonym: "intellectual disability, X-linked, with isolated Growth hormone deficiency" RELATED [OMIM:300123]
synonym: "intellectual disability, X-linked, with panhypopituitarism" EXACT [OMIM:300123]
synonym: "mental retardation, X-linked, with isolated Growth hormone deficiency" RELATED DEPRECATED [OMIM:300123]
synonym: "mental retardation, X-linked, with panhypopituitarism" RELATED DEPRECATED [OMIM:300123]
xref: MEDGEN:394771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300123 {source="MONDO:equivalentTo"}
xref: Orphanet:231692 {source="OMIM:300123"}
xref: Orphanet:631 {source="OMIM:300123"}
xref: Orphanet:67045 {source="MONDO:relatedTo", source="OMIM:300123"}
xref: UMLS:C2678223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394771"}
is_a: MONDO:0002254 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic disease
is_a: MONDO:0100195 {source="https://github.com/monarch-initiative/mondo/issues/2045", source="https://github.com/monarch-initiative/mondo/issues/926"} ! X-linked intellectual disability with hypopituitarism
relationship: excluded_subClassOf MONDO:0001071 {source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="https://github.com/monarch-initiative/mondo/issues/2002", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11199 {source="MONDO:mim2gene_medgen"} ! SOX3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010253
name: migraine, familial typical, susceptibility to, 2
subset: predisposition
synonym: "Mfts" RELATED [OMIM:300125]
synonym: "Mgr2" RELATED [OMIM:300125]
synonym: "migraine with or without aura, susceptibility to, 2" RELATED [OMIM:300125]
synonym: "migraine, familial typical, susceptibility to, 2" EXACT [OMIM:300125]
synonym: "migraine, familial typical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:300125]
xref: MEDGEN:341144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300125 {source="MONDO:equivalentTo"}
xref: UMLS:C1848066 {source="MONDO:equivalentTo", source="MEDGEN:341144", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 ! migraine with or without aura, susceptibility to
relationship: excluded_subClassOf MONDO:0021146 {source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! headache disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015954"} ! rare

[Term]
id: MONDO:0010254
name: obsolete hematopoietic stem cell kinetics, control of
synonym: "hematopoietic stem cell kinetics, control of" EXACT [OMIM:300129]
xref: OMIM:300129 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0010255
name: diabetes mellitus, insulin-dependent, X-linked, susceptibility to
subset: predisposition
synonym: "diabetes mellitus, insulin-dependent, X-linked" EXACT [OMIM:300136, OMIM:genemap2]
synonym: "diabetes mellitus, insulin-dependent, X-linked, susceptibility to" EXACT [OMIM:300136]
synonym: "Iddmx" RELATED [OMIM:300136]
synonym: "insulin-dependent diabetes mellitus, X-linked, susceptibility to" RELATED [OMIM:300136]
xref: MEDGEN:338376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300136 {source="MONDO:equivalentTo"}
xref: UMLS:C1848042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338376"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010256
name: intellectual disability, X-linked 21
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IL1RAPL1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, X-linked 21, X-linked recessive" EXACT [OMIM:300143, OMIM:genemap2]
synonym: "intellectual disability, X-linked 21" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300143]
synonym: "intellectual disability, X-linked 34" RELATED [OMIM:300143]
synonym: "intellectual disability, X-linked type 21" EXACT [MONDORULE:2, OMIM:300143]
synonym: "mental retardation, X-linked 21" RELATED DEPRECATED [MONDO:Lexical, OMIM:300143]
synonym: "mental retardation, X-linked 34" RELATED DEPRECATED [OMIM:300143]
synonym: "mental retardation, X-linked type 21" EXACT DEPRECATED [MONDORULE:2, OMIM:300143]
synonym: "MRX21" RELATED DEPRECATED [MONDO:Lexical, OMIM:300143]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1" EXACT [MONDO:design_pattern]
xref: DOID:0112022 {source="MONDO:equivalentTo"}
xref: GARD:22669 {source="MONDO:GARD"}
xref: MEDGEN:1790509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300143 {source="MONDO:equivalentTo"}
xref: UMLS:C5551510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790509"}
is_a: MONDO:0019181 {source="DC-OMIM:300143", source="MONDO:Redundant", source="OMIM:300143"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5996 ! IL1RAPL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5996 {source="MONDO:mim2gene_medgen"} ! IL1RAPL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010257
name: prostate cancer, hereditary, X-linked 1
subset: gard_rare {source="GARD:15253", source="MONDO:GARD"}
subset: rare
synonym: "HPCX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300147]
synonym: "prostate cancer susceptibility, X-linked" RELATED [OMIM:300147]
synonym: "prostate cancer, hereditary, X-linked 1" EXACT [MONDO:Lexical, OMIM:300147]
xref: GARD:15253 {source="MONDO:GARD"}
xref: MEDGEN:339479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300147 {source="MONDO:equivalentTo"}
xref: UMLS:C1846279 {source="MEDGEN:339479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:300147", source="MONDO:0010257/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0010258
name: MEHMO syndrome
def: "MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction." [Orphanet:85282]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85282"}
subset: ordo_malformation_syndrome {source="Orphanet:85282"}
subset: orphanet_rare {source="Orphanet:85282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [DOID:0060801, GARD:0009178, MONDO:Lexical, OMIM:300148]
synonym: "intellectual disability, X-linked, syndromic 20" EXACT [OMIM:300148]
synonym: "intellectual disability, X-linked, syndromic 25" EXACT [OMIM:300148]
synonym: "intellectual disability, X-linked, syndromic, Borck type" EXACT [OMIM:300987]
synonym: "intellectual disability, X-linked, syndromic, Borck type; MRXSBRK" EXACT []
synonym: "MEHMO" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300148]
synonym: "MEHMO syndrome" EXACT [OMIM:300148]
synonym: "MEHMO syndrome, X-linked recessive" EXACT [OMIM:300148, OMIM:genemap2]
synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT DEPRECATED [DOID:0060801, MONDO:Lexical, OMIM:300148]
synonym: "mental retardation, X-linked, syndromic 20" RELATED DEPRECATED [OMIM:300148]
synonym: "mental retardation, X-linked, syndromic 25" RELATED DEPRECATED [OMIM:300148]
synonym: "mental retardation, X-linked, syndromic, Borck type" EXACT DEPRECATED [OMIM:300987]
synonym: "MRXS20" EXACT ABBREVIATION [DOID:0060801]
synonym: "MRXS25" EXACT ABBREVIATION [DOID:0060801]
synonym: "MRXSBRK" EXACT ABBREVIATION [OMIM:300987]
synonym: "syndromic X-linked intellectual disability 20" EXACT [DOID:0060801]
synonym: "syndromic X-linked intellectual disability 25" EXACT [DOID:0060801]
synonym: "syndromic X-linked mental retardation 20" EXACT DEPRECATED [DOID:0060801]
synonym: "syndromic X-linked mental retardation 25" EXACT DEPRECATED [DOID:0060801]
synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT [DOID:0060801, Orphanet:85282]
synonym: "X-linked MEHMO syndrome" RELATED [GARD:0009178]
xref: DOID:0060801 {source="MONDO:equivalentTo"}
xref: GARD:9178 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85282", source="DOID:0060801", source="Orphanet:85282/attributed", source="Orphanet:85282/ntbt"}
xref: MEDGEN:375855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537451 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="Orphanet:85282", source="DOID:0060801"}
xref: OMIM:300148 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:85282", source="DOID:0060801"}
xref: OMIM:300987 {source="MONDO:equivalentObsolete"}
xref: Orphanet:85282 {source="MONDO:equivalentTo", source="OMIM:300148", source="DOID:0060801"}
xref: SCTID:722037004 {source="MONDO:equivalentTo"}
xref: UMLS:C1846278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375855"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0016402 {source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete mitochondrial disease with epilepsy
relationship: excluded_subClassOf MONDO:0016403 {source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete mitochondrial disease with peripheral neuropathy
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300148", source="DC-OMIM:300987", source="DOID:0060801", source="OMIM:300148", source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3267 {source="MONDO:mim2gene_medgen", source="PMID:30517694"} ! EIF2S3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010259
name: retinitis pigmentosa 24
def: "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27." [DOID:0110416, PMID:10690843]
subset: gard_rare {source="GARD:10389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 24" EXACT [MONDO:Lexical, OMIM:300155]
synonym: "retinitis pigmentosa type 24" EXACT [DOID:0110416, MONDORULE:2]
synonym: "RP 24" RELATED [GARD:0010389]
synonym: "RP24" EXACT ABBREVIATION [DOID:0110416, MONDO:Lexical, OMIM:300155]
xref: DOID:0110416 {source="MONDO:equivalentTo"}
xref: GARD:10389 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110416"}
xref: MEDGEN:854690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300155 {source="DOID:0110416", source="MONDO:equivalentTo"}
xref: UMLS:C3887982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854690"}
is_a: MONDO:0019200 {source="DC-OMIM:300155", source="DOID:0110416", source="OMIM:300155"} ! retinitis pigmentosa
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10389/retinitis-pigmentosa-24" xsd:anyURI {source="GARD:0010389"}

[Term]
id: MONDO:0010260
name: arthrogryposis, congenital, lower limb, X-linked
synonym: "ACLLX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300158]
synonym: "arthrogryposis, congenital, LOWER limb, X-linked" RELATED [MONDO:Lexical, OMIM:300158]
synonym: "arthrogryposis, X-linked, type V" RELATED [OMIM:300158]
synonym: "arthrogryposis, X-linked, type V, formerly" RELATED [OMIM:300158]
xref: MEDGEN:339477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564574 {source="MONDO:equivalentTo"}
xref: OMIM:300158 {source="MONDO:equivalentTo"}
xref: UMLS:C1846273 {source="MEDGEN:339477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564574/inferred"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0010261
name: microphthalmia, syndromic 2
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4628", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2712"}
subset: ordo_malformation_syndrome {source="Orphanet:2712"}
subset: orphanet_rare {source="Orphanet:2712"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANOP2 (formerly)" RELATED [GARD:0004628, OMIM:300166]
synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [Orphanet:2712]
synonym: "MAA2 (formerly)" RELATED [GARD:0004628, OMIM:300166]
synonym: "MCOPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300166]
synonym: "microphthalmia cataracts radiculomegaly and septal heart defects" RELATED [GARD:0004628]
synonym: "microphthalmia syndromic 2" EXACT [GARD:0004628]
synonym: "microphthalmia, cataracts, radiculomegaly, and septal heart defects" RELATED [OMIM:300166]
synonym: "microphthalmia, syndromic 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300166]
synonym: "microphthalmia, syndromic 2, X-linked dominant" EXACT [OMIM:300166, OMIM:genemap2]
synonym: "microphthalmia, syndromic type 2" EXACT [MONDORULE:1, OMIM:300166]
synonym: "oculofaciocardiodental syndrome" EXACT [OMIM:300166]
synonym: "OFCD syndrome" EXACT [OMIM:300166, Orphanet:2712]
synonym: "syndromic microphthalmia type 2" RELATED [GARD:0004628]
xref: DOID:0111809 {source="MONDO:equivalentTo"}
xref: GARD:4628 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2712", source="Orphanet:2712/attributed", source="Orphanet:2712/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:337547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537465 {source="Orphanet:2712", source="Orphanet:2712/e"}
xref: MESH:C537735 {source="Orphanet:2712", source="Orphanet:2712/e"}
xref: OMIM:300166 {source="MONDO:equivalentTo"}
xref: Orphanet:2712 {source="OMIM:300166", source="MONDO:equivalentTo"}
xref: Orphanet:568 {source="OMIM:300166", source="MONDO:directSiblingOf"}
xref: SCTID:699300009 {source="MONDO:equivalentTo"}
xref: UMLS:C1846265 {source="MONDO:equivalentTo", source="MEDGEN:337547", source="MONDO:MEDGEN"}
is_a: MONDO:0016073 {source="DC-OMIM:300166", source="OMIM:300166", source="Orphanet:2712"} ! syndromic microphthalmia
relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:2712", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0018924 {source="Orphanet:2712", source="https://orcid.org/0000-0001-5208-3432"} ! microphthalmia, Lenz type
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2712", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20893 {source="MONDO:mim2gene_medgen"} ! BCOR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2999" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010262
name: hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
synonym: "hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response" RELATED [GARD:0009601]
synonym: "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses" EXACT [OMIM:300184]
xref: MEDGEN:373521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537159 {source="MONDO:equivalentTo"}
xref: OMIM:300184 {source="MONDO:equivalentTo"}
xref: UMLS:C1970936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373521"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0010263
name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
subset: gard_rare {source="GARD:16761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86818"}
subset: orphanet_rare {source="Orphanet:86818"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis" RELATED [OMIM:300194]
synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" RELATED DEPRECATED [OMIM:300194]
synonym: "AMME complex" EXACT [OMIM:300194, Orphanet:86818]
synonym: "AMME syndrome" EXACT [Orphanet:86818]
synonym: "ATS-MR" EXACT [Orphanet:86818]
synonym: "Ats-Mr" RELATED [OMIM:300194]
synonym: "chromosome Xq22.3 telomeric deletion syndrome" RELATED [OMIM:300194]
xref: DOID:0111860 {source="MONDO:equivalentTo"}
xref: GARD:16761 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:86818/attributed", source="Orphanet:86818/ntbt", source="Orphanet:86818"}
xref: MEDGEN:337424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564570 {source="MONDO:equivalentTo"}
xref: OMIM:300194 {source="Orphanet:86818/e", source="MONDO:equivalentTo", source="Orphanet:86818"}
xref: Orphanet:86818 {source="OMIM:300194", source="MONDO:equivalentTo"}
xref: SCTID:720982007 {source="MONDO:equivalentTo"}
xref: UMLS:C1846242 {source="MEDGEN:337424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0003664 {source="Orphanet:86818", source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:86818", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0017007 {source="Orphanet:86818", source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the long arm of chromosome X
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:86818", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015910"} ! rare

[Term]
id: MONDO:0010264
name: X-linked adrenal hypoplasia congenita
def: "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." [NCIT:C123725]
subset: gard_rare {source="GARD:555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95702"}
subset: orphanet_rare {source="Orphanet:95702"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Addison disease, X-linked" RELATED [OMIM:300200]
synonym: "adrenal hypoplasia congenita" BROAD [NCIT:C123725]
synonym: "adrenal hypoplasia, congenital" RELATED [MONDO:Lexical, OMIM:300200]
synonym: "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism" RELATED [OMIM:300200]
synonym: "adrenal hypoplasia, congenital, with precocious puberty" RELATED [OMIM:300200]
synonym: "adrenal hypoplasia, congenital, X-linked recessive" EXACT [OMIM:300200, OMIM:genemap2]
synonym: "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism" RELATED [OMIM:300200]
synonym: "AHC" BROAD ABBREVIATION [MONDO:Lexical, OMIM:300200]
synonym: "AHC with HHG" RELATED [OMIM:300200]
synonym: "AHC with isolated gonadotropin deficiency" RELATED [OMIM:300200]
synonym: "congenital adrenal hypoplasia" EXACT [DOID:0080156]
synonym: "cytomegalic adrenocortical hypoplasia" RELATED [OMIM:300200]
synonym: "cytomegalic congenital adrenal hypoplasia" RELATED [Orphanet:95702]
synonym: "mineralocorticoid deficiency, isolated" RELATED [OMIM:300200]
synonym: "X-linked adrenal hypoplasia congenita" EXACT CLINGEN_LABEL []
synonym: "X-linked AHC" RELATED [GARD:0000555]
synonym: "X-linked congenital adrenal hypoplasia" EXACT [Orphanet:95702]
xref: DOID:0080156 {source="MONDO:equivalentTo"}
xref: GARD:555 {source="MONDO:GARD"}
xref: ICD10CM:E27.1 {source="Orphanet:95702", source="Orphanet:95702/attributed", source="Orphanet:95702/ntbt"}
xref: MEDGEN:87442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200403 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200357 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123725 {source="MONDO:equivalentTo"}
xref: OMIM:300200 {source="DOID:0080156", source="MONDO:equivalentTo", source="Orphanet:95702", source="Orphanet:95702/e"}
xref: Orphanet:95702 {source="MONDO:equivalentTo", source="OMIM:300200"}
xref: SCTID:93235007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87442"}
is_a: MONDO:0000004 {source="DC-OMIM:300200", source="DOID:0080156", source="MONDO:Redundant"} ! adrenocortical insufficiency
is_a: MONDO:0005495 {source="MONDO:Redundant", source="Orphanet:95702", source="Orphanet:95702/inferred"} ! adrenal gland disorder
is_a: MONDO:0015129 {source="Orphanet:95702", source="Orphanet:95702/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0016241 {source="NCIT:C123725"} ! alternating hemiplegia of childhood
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7960 {source="MONDO:mim2gene_medgen"} ! NR0B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010265
name: Simpson-Golabi-Behmel syndrome type 2
def: "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." [Orphanet:79022]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:79022"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lethal variant of Simpson-Golabi-Behmel syndrome" EXACT [Orphanet:79022]
synonym: "OFD1 Simpson-Golabi-Behmel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SGBS2" EXACT ABBREVIATION [Orphanet:79022]
synonym: "Sgbs2" RELATED [OMIM:300209]
synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern]
synonym: "Simpson-Golabi-Behmel syndrome, type 2" RELATED [OMIM:300209]
synonym: "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive" EXACT [OMIM:300209, OMIM:genemap2]
xref: DOID:0080342 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q87.3 {source="Orphanet:79022/attributed", source="Orphanet:79022/ntbt", source="Orphanet:79022"}
xref: MEDGEN:337527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564567 {source="MONDO:equivalentTo"}
xref: OMIM:300209 {source="Orphanet:79022/e", source="DOID:0080342", source="MONDO:equivalentTo", source="Orphanet:79022"}
xref: Orphanet:79022 {source="MONDO:equivalentObsolete", source="OMIM:300209"}
xref: UMLS:C1846175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337527"}
is_a: MONDO:0010731 {source="DC-OMIM:300209", source="MONDO:Redundant"} ! Simpson-Golabi-Behmel syndrome
intersection_of: MONDO:0010731 ! Simpson-Golabi-Behmel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 ! OFD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 {source="MONDO:mim2gene_medgen"} ! OFD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010266
name: intellectual disability, X-linked 58
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22670", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 58, X-linked recessive" EXACT [OMIM:300210, OMIM:genemap2]
synonym: "intellectual disability, X-linked 58" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300210]
synonym: "intellectual disability, X-linked type 58" EXACT [MONDORULE:2, OMIM:300210]
synonym: "mental retardation, X-linked 58" RELATED DEPRECATED [MONDO:Lexical, OMIM:300210]
synonym: "mental retardation, X-linked type 58" EXACT DEPRECATED [MONDORULE:2, OMIM:300210]
synonym: "MRX58" RELATED DEPRECATED [MONDO:Lexical, OMIM:300210]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7" EXACT [MONDO:design_pattern]
synonym: "TSPAN7 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112024 {source="MONDO:equivalentTo"}
xref: GARD:22670 {source="MONDO:GARD"}
xref: MEDGEN:337526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564566 {source="MONDO:equivalentTo"}
xref: OMIM:300210 {source="MONDO:equivalentTo"}
xref: UMLS:C1846174 {source="MEDGEN:337526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300210", source="MONDO:Redundant", source="OMIM:300210"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11854 ! TSPAN7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11854 {source="MONDO:mim2gene_medgen"} ! TSPAN7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010267
name: episodic muscle weakness, X-linked
synonym: "EMWX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300211]
synonym: "episodic muscle weakness, X-linked" EXACT [MONDO:Lexical, OMIM:300211]
xref: MEDGEN:337525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564565 {source="MONDO:equivalentTo"}
xref: OMIM:300211 {source="MONDO:equivalentTo"}
xref: UMLS:C1846173 {source="MONDO:equivalentTo", source="MEDGEN:337525", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564565/inferred"} ! hereditary disease

[Term]
id: MONDO:0010268
name: X-linked lissencephaly with abnormal genitalia
def: "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit." [https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia]
subset: gard_rare {source="GARD:12491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:452"}
subset: ordo_malformation_syndrome {source="Orphanet:452"}
subset: orphanet_rare {source="Orphanet:452"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydranencephaly and abnormal genitalia" RELATED [OMIM:300215]
synonym: "hydranencephaly with abnormal genitalia" RELATED [GARD:0012491]
synonym: "lissencephaly, X-linked 2" RELATED [GARD:0012491]
synonym: "lissencephaly, X-linked, 2" RELATED [MONDO:Lexical, OMIM:300215]
synonym: "lissencephaly, X-linked, type 2" EXACT [MONDORULE:1, OMIM:300215]
synonym: "lissencephaly, X-linked, with ambiguous genitalia" RELATED [OMIM:300215]
synonym: "LISX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300215]
synonym: "X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies" RELATED [GARD:0012491]
synonym: "X-linked lissencephaly with abnormal genitalia" EXACT CLINGEN_LABEL []
synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT [Orphanet:452]
synonym: "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome" EXACT [Orphanet:452]
synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT [Orphanet:452]
synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT [Orphanet:452]
synonym: "XLAG syndrome" RELATED [GARD:0012491]
synonym: "Xlisg" RELATED [OMIM:300215]
xref: DOID:0112238 {source="MONDO:equivalentTo"}
xref: GARD:12491 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:452/attributed", source="Orphanet:452/ntbt", source="Orphanet:452"}
xref: MEDGEN:375832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564563 {source="MONDO:equivalentTo"}
xref: OMIM:300215 {source="Orphanet:452/e", source="MONDO:equivalentTo", source="Orphanet:452"}
xref: Orphanet:452 {source="MONDO:equivalentTo", source="OMIM:300215"}
xref: SCTID:717632002 {source="MONDO:equivalentTo"}
xref: UMLS:C1846171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375832"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0018838 {source="MESH:C564563/inferred", source="MONDO:0015147-obsoleted", source="MONDO:Redundant", source="OMIM:300215", source="Orphanet:452/inferred"} ! lissencephaly spectrum disorders
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia" xsd:anyURI {source="GARD:0012491"}

[Term]
id: MONDO:0010269
name: Coats disease
def: "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." [Orphanet:190]
subset: gard_rare {source="GARD:6121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:981"}
subset: ordo_disorder {source="Orphanet:190"}
subset: orphanet_rare {source="Orphanet:190"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Coats disease" EXACT [OMIM:300216]
synonym: "Coats' disease" EXACT [DOID:7765]
synonym: "Coats' syndrome" EXACT [DOID:7765]
synonym: "congenital retinal telangiectasia" EXACT [Orphanet:190]
synonym: "exudative retinopathy" EXACT [DOID:7765, ICD9CM:362.12]
synonym: "Leber miliary aneurysm" EXACT [Orphanet:190]
synonym: "retinal telangiectasis" RELATED [OMIM:300216]
xref: DOID:7765 {source="MONDO:equivalentTo"}
xref: GARD:6121 {source="MONDO:GARD"}
xref: ICD10CM:H35.0 {source="Orphanet:190/inclusion", source="Orphanet:190/ntbt", source="Orphanet:190"}
xref: ICD10CM:H35.02 {source="DOID:7765"}
xref: ICD10CM:H35.07 {source="DOID:7765"}
xref: ICD9:362.12 {source="DOID:7765"}
xref: MedDRA:10015901 {source="Orphanet:190", source="Orphanet:190/e"}
xref: MEDGEN:102319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058456 {source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="Orphanet:190/e"}
xref: NORD:981 {source="MONDO:NORD"}
xref: OMIM:300216 {source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="Orphanet:190/e"}
xref: Orphanet:190 {source="MONDO:equivalentTo", source="OMIM:300216"}
xref: SCTID:193359003 {source="DOID:7765"}
xref: SCTID:193360008 {source="DOID:7765"}
xref: SCTID:25506007 {source="DOID:7765"}
xref: SCTID:360455002 {source="DOID:7765", source="MONDO:equivalentTo"}
xref: UMLS:C0154832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102319"}
is_a: MONDO:0004348 {source="DOID:7765"} ! retinal telangiectasia
is_a: MONDO:0020247 {source="Orphanet:190"} ! congenital vitreoretinal dysplasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6121/coats-disease" xsd:anyURI {source="GARD:0006121"}

[Term]
id: MONDO:0010270
name: syndromic X-linked intellectual disability 7
def: "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." [Orphanet:85274]
subset: gard_rare {source="GARD:9156", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85274"}
subset: ordo_malformation_syndrome {source="Orphanet:85274"}
subset: orphanet_rare {source="Orphanet:85274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ahmad X-linked intellectual disability syndrome" RELATED [OMIM:300218]
synonym: "Ahmad X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300218]
synonym: "intellectual disability X-linked syndromic 7" RELATED [GARD:0009156]
synonym: "intellectual disability, obesity, hypogonadism, and tapering fingers" RELATED [GARD:0009156]
synonym: "intellectual disability, X-linked syndromic 7" EXACT [DOID:0060808]
synonym: "intellectual disability, X-linked, syndromic 7" RELATED [MONDO:Lexical, OMIM:300218]
synonym: "mental retardation X-linked syndromic 7" RELATED DEPRECATED [GARD:0009156]
synonym: "mental retardation, obesity, hypogonadism, and tapering fingers" RELATED DEPRECATED [GARD:0009156]
synonym: "mental retardation, X-linked syndromic 7" EXACT DEPRECATED [DOID:0060808]
synonym: "mental retardation, X-linked, syndromic 7" RELATED DEPRECATED [MONDO:Lexical, OMIM:300218]
synonym: "MRXS7" EXACT ABBREVIATION [DOID:0060808, MONDO:Lexical, OMIM:300218, Orphanet:85274]
synonym: "syndromic X-linked intellectual disability type 7" EXACT [DOID:0060808, MONDORULE:1, Orphanet:85274]
synonym: "X-linked intellectual disability, Ahmad type" EXACT [DOID:0060808, Orphanet:85274]
xref: DOID:0060808 {source="MONDO:equivalentTo"}
xref: GARD:9156 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060808", source="Orphanet:85274/attributed", source="Orphanet:85274/ntbt", source="Orphanet:85274"}
xref: MEDGEN:337403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537449 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="Orphanet:85274"}
xref: OMIM:300218 {source="DOID:0060808", source="Orphanet:85274/e", source="MONDO:equivalentTo", source="Orphanet:85274"}
xref: Orphanet:85274 {source="DOID:0060808", source="MONDO:equivalentTo", source="OMIM:300218"}
xref: SCTID:719160009 {source="MONDO:equivalentTo"}
xref: UMLS:C1846170 {source="MEDGEN:337403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85274"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300218", source="DOID:0060808", source="OMIM:300218", source="Orphanet:85274", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010271
name: X-linked myotubular myopathy-abnormal genitalia syndrome
def: "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." [Orphanet:456328]
subset: gard_rare {source="GARD:17792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:456328"}
subset: orphanet_rare {source="Orphanet:456328"}
subset: rare
synonym: "myotubular myopathy with abnormal genital development" RELATED [OMIM:300219]
synonym: "Xq28 contiguous gene deletion syndrome" EXACT [Orphanet:456328]
xref: GARD:17792 {source="MONDO:GARD"}
xref: MEDGEN:335354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564561 {source="MONDO:equivalentTo"}
xref: OMIM:300219 {source="MONDO:equivalentTo", source="Orphanet:456328", source="Orphanet:456328/e"}
xref: Orphanet:456328 {source="MONDO:equivalentTo"}
xref: UMLS:C1846169 {source="MEDGEN:335354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0010683 ! X-linked myotubular myopathy
is_a: MONDO:0017007 {source="Orphanet:456328"} ! partial deletion of the long arm of chromosome X
is_a: MONDO:0020040 ! 46,XY disorder of sex development
relationship: disease_arises_from_structure CHR:9606-chrXq28 {source="https://orcid.org/0000-0002-4142-7153"} ! Xq28 (Human)
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0010272
name: obsolete syndromic X-linked intellectual disability type 10
comment: OMIM merged these
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1690" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010327

[Term]
id: MONDO:0010273
name: lymphoma, Hodgkin, X-linked pseudoautosomal
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Hodgkin disease susceptibility, pseudoautosomal" EXACT [OMIM:300221, OMIM:genemap2]
synonym: "Hodgkin disease, X-linked Pseudoautosomal" RELATED [OMIM:300221]
synonym: "lymphoma, Hodgkin, X-linked pseudoautosomal" EXACT [OMIM:300221]
xref: MEDGEN:335352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538326 {source="MONDO:equivalentTo"}
xref: OMIM:300221 {source="MONDO:equivalentTo"}
xref: Orphanet:391 {source="OMIM:300221"}
xref: UMLS:C1846167 {source="MEDGEN:335352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004952 {source="MESH:C538326"} ! Hodgkins lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010274
name: testicular germ cell tumor 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "testicular germ cell tumor" BROAD [OMIM:300228, OMIM:genemap2]
synonym: "testicular germ cell tumor 1" EXACT [MONDO:Lexical, OMIM:300228]
synonym: "testicular germ cell tumour" BROAD OMO:0003005 []
synonym: "TGCT1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300228]
xref: MEDGEN:337402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564559 {source="MONDO:equivalentTo"}
xref: OMIM:300228 {source="MONDO:equivalentTo"}
xref: UMLS:C1846164 {source="MEDGEN:337402", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010108 {source="https://orcid.org/0000-0001-5208-3432"} ! testicular germ cell tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010275
name: spondyloepimetaphyseal dysplasia, Bieganski type
def: "A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive." [Orphanet:83629]
subset: gard_rare {source="GARD:4891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83629"}
subset: orphanet_rare {source="Orphanet:83629"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "H-SMD" EXACT [Orphanet:83629]
synonym: "hypomyelination-spondyloepimetaphyseal dysplasia syndrome" EXACT [Orphanet:83629]
synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" RELATED [MONDO:Lexical, OMIM:300660]
synonym: "leukoencephalopathy-metaphyseal chondrodysplasia syndrome" EXACT [Orphanet:83629]
synonym: "leukoencephalopathy-SEMD syndrome" EXACT [Orphanet:83629]
synonym: "LKMCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300660]
synonym: "SEMD X-linked with mental deterioration" RELATED [GARD:0004891]
synonym: "SEMD, X-linked, with mental deterioration" RELATED [OMIM:300232]
synonym: "spondyloepimetaphyseal dysplasia X-linked with mental deterioration" RELATED [GARD:0004891]
synonym: "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" EXACT [OMIM:300232, OMIM:genemap2]
synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" RELATED [OMIM:300232]
xref: GARD:4891 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:83629/attributed", source="Orphanet:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"}
xref: ICD10CM:Q77.7 {source="Orphanet:168448", source="Orphanet:168448/attributed", source="Orphanet:168448/ntbt"}
xref: MEDGEN:335350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536671 {source="MONDO:equivalentTo"}
xref: MESH:C567065 {source="MONDO:equivalentTo"}
xref: OMIM:300232 {source="MONDO:equivalentTo", source="Orphanet:168448", source="Orphanet:168448/e"}
xref: Orphanet:168448 {source="MONDO:equivalentObsolete", source="OMIM:300232"}
xref: Orphanet:83629 {source="OMIM:300660", source="MONDO:equivalentTo"}
xref: UMLS:C1846148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335350"}
is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:168448", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8768 {source="OMIM:300232"} ! AIFM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0010276
name: radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
synonym: "radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE" RELATED [OMIM:300233]
xref: MEDGEN:335349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564557 {source="MONDO:equivalentTo"}
xref: OMIM:300233 {source="MONDO:equivalentTo"}
xref: UMLS:C1846147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335349"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010277
name: syndromic X-linked intellectual disability Shashi type
def: "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome." [Orphanet:85286]
subset: gard_rare {source="GARD:4119", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85286"}
subset: ordo_malformation_syndrome {source="Orphanet:85286"}
subset: orphanet_rare {source="Orphanet:85286"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive" EXACT [OMIM:300238, OMIM:genemap2]
synonym: "intellectual disability X-linked Shashi type" RELATED [GARD:0004119]
synonym: "intellectual disability X-linked syndromic 11" RELATED [GARD:0004119]
synonym: "intellectual disability, X-linked, Shashi type" RELATED [OMIM:300238]
synonym: "intellectual disability, X-linked, syndromic 11" RELATED [MONDO:Lexical, OMIM:300238]
synonym: "intellectual disability, X-linked, syndromic 11, Shashi type" EXACT [DOID:0060826]
synonym: "mental retardation X-linked Shashi type" RELATED DEPRECATED [GARD:0004119]
synonym: "mental retardation X-linked syndromic 11" RELATED DEPRECATED [GARD:0004119]
synonym: "mental retardation, X-linked, Shashi type" RELATED DEPRECATED [OMIM:300238]
synonym: "mental retardation, X-linked, syndromic 11" RELATED DEPRECATED [MONDO:Lexical, OMIM:300238]
synonym: "mental retardation, X-linked, syndromic 11, Shashi type" EXACT DEPRECATED [DOID:0060826]
synonym: "MRXS11" EXACT ABBREVIATION [DOID:0060826, MONDO:Lexical, OMIM:300238]
synonym: "Shashi X-linked intellectual disability syndrome" EXACT [DOID:0060826, OMIM:300238]
synonym: "Shashi X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060826, OMIM:300238]
synonym: "SMRXS" EXACT ABBREVIATION [DOID:0060826]
synonym: "syndromic X-linked intellectual disability type 11" EXACT [DOID:0060826, Orphanet:85286]
synonym: "X-linked intellectual disability Shashi type" EXACT [DOID:0060826]
synonym: "X-linked intellectual disability, Shashi type" RELATED [Orphanet:85286]
synonym: "X-linked mental retardation Shashi type" EXACT DEPRECATED [DOID:0060826]
xref: DOID:0060826 {source="MONDO:equivalentTo"}
xref: GARD:4119 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85286/attributed", source="Orphanet:85286/ntbt", source="DOID:0060826", source="Orphanet:85286"}
xref: MEDGEN:335348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537135 {source="MONDO:equivalentTo"}
xref: OMIM:300238 {source="Orphanet:85286/e", source="MONDO:equivalentTo", source="DOID:0060826", source="Orphanet:85286"}
xref: Orphanet:85286 {source="MONDO:equivalentTo", source="OMIM:300238", source="DOID:0060826"}
xref: SCTID:718900002 {source="MONDO:equivalentTo"}
xref: UMLS:C1846145 {source="MEDGEN:335348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85286"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300238", source="DOID:0060826", source="OMIM:300238", source="Orphanet:85286", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9910 {source="MONDO:mim2gene_medgen"} ! RBMX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010278
name: Christianson syndrome
def: "A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." [Orphanet:85278]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85278"}
subset: ordo_malformation_syndrome {source="Orphanet:85278"}
subset: orphanet_rare {source="Orphanet:85278"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Angelman-like syndrome X-linked" RELATED [GARD:0010572]
synonym: "Angelman-like syndrome, X-linked" RELATED [OMIM:300243]
synonym: "Christianson syndrome" EXACT CLINGEN_LABEL []
synonym: "intellectual developmental disorder, X-linked syndromic, Christianson type" EXACT [OMIM:300243, OMIM:genemap2]
synonym: "intellectual disability microcephaly epilepsy and ataxia syndrome" RELATED [GARD:0010572]
synonym: "intellectual disability X-linked syndromic Christianson type" RELATED [GARD:0010572]
synonym: "intellectual disability, microcephaly, epilepsy, and ataxia syndrome" EXACT [DOID:0060825, OMIM:300243]
synonym: "intellectual disability, X-linked syndromic, Christianson type" EXACT [DOID:0060825]
synonym: "intellectual disability, X-linked, syndromic, Christianson type" RELATED [MONDO:Lexical, OMIM:300243]
synonym: "mental retardation, microcephaly, epilepsy, and ataxia syndrome" EXACT DEPRECATED [DOID:0060825, OMIM:300243]
synonym: "mental retardation, X-linked syndromic, Christianson type" EXACT DEPRECATED [DOID:0060825]
synonym: "mental retardation, X-linked, syndromic, Christianson type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300243]
synonym: "MRXS Christianson" RELATED [GARD:0010572]
synonym: "MRXSCH" EXACT ABBREVIATION [DOID:0060825, MONDO:Lexical, OMIM:300243]
synonym: "X-linked Angelman-like syndrome" EXACT [DOID:0060825, Orphanet:85278]
synonym: "X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy" RELATED [GARD:0010572]
synonym: "X-linked intellectual disability, South African type" EXACT [DOID:0060825, Orphanet:85278]
synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [DOID:0060825, Orphanet:85278]
xref: DOID:0060825 {source="MONDO:equivalentTo"}
xref: GARD:10572 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85278/attributed", source="Orphanet:85278/ntbt", source="Orphanet:85278", source="DOID:0060825"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:394455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537450 {source="Orphanet:85278", source="Orphanet:85278/e", source="DOID:0060825"}
xref: MESH:C567484 {source="MONDO:equivalentTo"}
xref: OMIM:300243 {source="Orphanet:85278", source="MONDO:equivalentTo", source="Orphanet:85278/e", source="DOID:0060825"}
xref: Orphanet:85278 {source="OMIM:300243", source="MONDO:equivalentTo", source="DOID:0060825"}
xref: SCTID:702354007 {source="MONDO:equivalentTo"}
xref: UMLS:C2678194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394455"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85278", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0016612 {source="Orphanet:85278", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked cerebellar ataxia
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300243", source="DOID:0060825", source="OMIM:300243", source="Orphanet:85278", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11079 {source="MONDO:mim2gene_medgen"} ! SLC9A6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome" xsd:anyURI {source="GARD:0010572"}

[Term]
id: MONDO:0010279
name: terminal osseous dysplasia-pigmentary defects syndrome
def: "A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis." [Orphanet:88630]
subset: gard_rare {source="GARD:16769", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88630"}
subset: ordo_malformation_syndrome {source="Orphanet:88630"}
subset: orphanet_rare {source="Orphanet:88630"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Odpd" RELATED [OMIM:300244]
synonym: "Odpf syndrome" RELATED [OMIM:300244]
synonym: "osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula" RELATED [OMIM:300244]
synonym: "terminal osseous dysplasia" RELATED [MONDO:Lexical, OMIM:300244]
synonym: "terminal osseous dysplasia and pigmentary defects" RELATED [OMIM:300244]
synonym: "terminal osseous dysplasia, X-linked dominant" EXACT [OMIM:300244, OMIM:genemap2]
synonym: "TOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300244]
xref: DOID:0112149 {source="MONDO:equivalentTo"}
xref: GARD:16769 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:88630/attributed", source="Orphanet:88630/ntbt", source="Orphanet:88630"}
xref: MEDGEN:335344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564554 {source="MONDO:equivalentTo"}
xref: OMIM:300244 {source="Orphanet:88630/e", source="MONDO:equivalentTo", source="Orphanet:88630"}
xref: Orphanet:88630 {source="MONDO:equivalentTo", source="OMIM:300244"}
xref: UMLS:C1846129 {source="MEDGEN:335344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019690 {source="Orphanet:88630", source="PMID:31633310"} ! filamin-related bone disorder
is_a: MONDO:0019695 {source="Orphanet:88630"} ! acromelic dysplasia
relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:88630", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0010280
name: ptosis, hereditary congenital 2
subset: gard_rare {source="GARD:18163", source="MONDO:GARD"}
subset: rare
synonym: "Ptos2" RELATED [OMIM:300245]
synonym: "ptosis, hereditary congenital 2" EXACT [OMIM:300245]
synonym: "ptosis, hereditary congenital 2, X-linked dominant" EXACT [OMIM:300245, OMIM:genemap2]
synonym: "ptosis, hereditary congenital type 2" EXACT [MONDORULE:1, OMIM:300245]
synonym: "ptosis, X-linked" RELATED [OMIM:300245]
xref: GARD:18163 {source="MONDO:GARD"}
xref: MEDGEN:337515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564553 {source="MONDO:equivalentTo"}
xref: OMIM:300245 {source="MONDO:equivalentTo"}
xref: Orphanet:91411 {source="OMIM:300245"}
xref: UMLS:C1846128 {source="MEDGEN:337515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000728 {source="https://orcid.org/0000-0001-5208-3432"} ! ptosis
relationship: excluded_subClassOf MONDO:0008340 {source="Orphanet:91411/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! ptosis, hereditary congenital, 1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5372" xsd:anyURI

[Term]
id: MONDO:0010281
name: Danon disease
def: "A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." [https://orcid.org/0000-0001-5208-3432, Orphanet:34587]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1033"}
subset: ordo_disorder {source="Orphanet:34587"}
subset: orphanet_rare {source="Orphanet:34587"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANTOPOL disease" EXACT [DOID:0050437]
synonym: "Antopol disease" RELATED [OMIM:300257]
synonym: "Danon disease" EXACT CLINGEN_LABEL [OMIM:300257, Orphanet:34587]
synonym: "Danon disease, X-linked dominant" EXACT [OMIM:300257, OMIM:genemap2]
synonym: "glycogen storage cardiomyopathy" RELATED [GARD:0009730]
synonym: "glycogen storage disease due to LAMP-2 deficiency" RELATED [Orphanet:34587]
synonym: "glycogen storage disease IIb" RELATED [OMIM:300257]
synonym: "glycogen storage disease limited to the heart" RELATED [GARD:0009730]
synonym: "glycogen storage disease type 2b (formerly)" RELATED [GARD:0009730]
synonym: "glycogen storage disease type IIb" EXACT [NCIT:C84735]
synonym: "glycogenosis due to LAMP-2 deficiency" EXACT [Orphanet:34587]
synonym: "GSD due to LAMP-2 deficiency" EXACT [Orphanet:34587]
synonym: "GSD IIb" RELATED [OMIM:300257]
synonym: "GSD IIb, formerly" RELATED [OMIM:300257]
synonym: "GSD2B (formerly)" RELATED [GARD:0009730]
synonym: "LAMP2 lysosomal glycogen storage disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "lysosomal glycogen storage disease caused by mutation in LAMP2" EXACT []
synonym: "lysosomal glycogen storage disease with normal acid maltase activity" EXACT [Orphanet:34587]
synonym: "lysosomal glycogen storage disease without acid maltase deficiency" RELATED [OMIM:300257]
synonym: "lysosomal glycogen storage disease without acid maltase deficiency (formerly)" RELATED [GARD:0009730]
synonym: "lysosomal glycogen storage disease without acid maltase deficiency, formerly" RELATED [OMIM:300257]
synonym: "pseudoglycogenosis 2" RELATED [OMIM:300257]
synonym: "pseudoglycogenosis II" EXACT [DOID:0050437]
synonym: "vacuolar cardiomyopathy and myopathy X-linked" RELATED [GARD:0009730]
synonym: "vacuolar cardiomyopathy and myopathy, X-linked" RELATED [OMIM:300257]
synonym: "X-linked vacuolar cardiomyopathy and myopathy" RELATED [GARD:0009730]
xref: DOID:0050437 {source="MONDO:equivalentTo"}
xref: EFO:1001333 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9730 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:34587/attributed", source="Orphanet:34587/ntbt", source="Orphanet:34587"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:209235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052120 {source="MONDO:equivalentTo", source="DOID:0050437"}
xref: NANDO:1200145 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200222 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84735 {source="MONDO:equivalentTo", source="DOID:0050437"}
xref: NORD:1033 {source="MONDO:NORD"}
xref: OMIM:300257 {source="Orphanet:34587/e", source="MONDO:equivalentTo", source="DOID:0050437", source="Orphanet:34587"}
xref: Orphanet:34587 {source="MONDO:equivalentTo", source="OMIM:300257"}
xref: SCTID:419097006 {source="MONDO:equivalentTo", source="DOID:0050437"}
xref: UMLS:C0878677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209235"}
is_a: MONDO:0002412 {source="MESH:D052120", source="NCIT:C84735/inferred", source="Orphanet:34587"} ! disorder of glycogen metabolism
is_a: MONDO:0017738 {source="Orphanet:34587", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal glycogen storage disease
intersection_of: MONDO:0017738 ! lysosomal glycogen storage disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6501 ! LAMP2
relationship: excluded_subClassOf MONDO:0009290 {source="NCIT:C84735", source="https://orcid.org/0000-0001-5208-3432"} ! glycogen storage disease II
relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:34587", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6501 {source="MONDO:mim2gene_medgen"} ! LAMP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9730/danon-disease" xsd:anyURI {source="GARD:0009730"}

[Term]
id: MONDO:0010282
name: Mycobacterium tuberculosis, susceptibility to, X-linked
subset: predisposition
synonym: "MTBSX" RELATED ABBREVIATION [OMIM:300259]
synonym: "Mycobacterium tuberculosis, susceptibility, X-linked" EXACT [OMIM:300259, OMIM:genemap2]
xref: MEDGEN:357096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300259 {source="MONDO:equivalentTo"}
xref: UMLS:C1866629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357096"}
is_a: MONDO:0000070 {source="DC-OMIM:300259"} ! Mycobacterium tuberculosis, susceptibility
intersection_of: MONDO:0000070 ! Mycobacterium tuberculosis, susceptibility
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010283
name: syndromic X-linked intellectual disability Lubs type
def: "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." [Orphanet:1762]
subset: gard_rare {source="GARD:9781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1762"}
subset: ordo_malformation_syndrome {source="Orphanet:1762"}
subset: orphanet_rare {source="Orphanet:1762"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal duplication Xq" EXACT [Orphanet:1762]
synonym: "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive" EXACT [OMIM:300260, OMIM:genemap2]
synonym: "intellectual disability, X-linked, Lubs type (formerly)" RELATED [GARD:0009781]
synonym: "intellectual disability, X-linked, syndromic, Lubs type" EXACT [DOID:0060799]
synonym: "intellectual disability, X-linked, with recurrent respiratory infections" EXACT [DOID:0060799, OMIM:300260]
synonym: "Lubs X-linked intellectual disability syndrome" EXACT [DOID:0060799, MONDO:Lexical, OMIM:300260]
synonym: "Lubs X-linked intellectual disability syndrome (formerly)" RELATED [GARD:0009781]
synonym: "Lubs X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060799, MONDO:Lexical, OMIM:300260]
synonym: "Lubs X-linked mental retardation syndrome (formerly)" RELATED DEPRECATED [GARD:0009781]
synonym: "MECP2 Duplication syndrome" RELATED [OMIM:300260]
synonym: "MECP2 duplication syndrome" EXACT [DOID:0060799]
synonym: "mental retardation, X-linked, Lubs type (formerly)" RELATED DEPRECATED [GARD:0009781]
synonym: "mental retardation, X-linked, syndromic, Lubs type" EXACT DEPRECATED [DOID:0060799]
synonym: "mental retardation, X-linked, with recurrent respiratory infections" EXACT DEPRECATED [DOID:0060799, OMIM:300260]
synonym: "MRXSL" EXACT ABBREVIATION [DOID:0060799, MONDO:Lexical, OMIM:300260]
synonym: "syndromic X-linked intellectual disability Lubs type" EXACT CLINGEN_LABEL []
synonym: "telomeric duplication Xq" EXACT [Orphanet:1762]
synonym: "trisomy Xq28" RELATED [Orphanet:1762]
synonym: "X-linked intellectual disability-hypotonia-recurrent infections syndrome" EXACT [DOID:0060799]
synonym: "XLMR syndrome, Lubs type" RELATED [GARD:0009781]
synonym: "Xq28 (MECP2) duplication" EXACT [DECIPHER:45]
xref: DECIPHER:45 {source="MONDO:equivalentTo"}
xref: DOID:0060799 {source="MONDO:equivalentTo"}
xref: GARD:9781 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060799"}
xref: ICD10CM:Q99.8 {source="Orphanet:1762/attributed", source="Orphanet:1762/ntbt", source="Orphanet:1762"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:337496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537723 {source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799", source="Orphanet:1762/e"}
xref: NANDO:2200984 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126747 {source="MONDO:equivalentTo"}
xref: OMIM:300260 {source="Orphanet:1762", source="MONDO:equivalentTo", source="DOID:0060799"}
xref: Orphanet:1762 {source="MONDO:equivalentTo"}
xref: Orphanet:85281 {source="OMIM:300260", source="DOID:0060799"}
xref: SCTID:702816000 {source="MONDO:equivalentTo"}
xref: UMLS:C1846058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337496"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C126747"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1762"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017010 {source="Orphanet:1762"} ! partial duplication of the long arm of chromosome X
is_a: MONDO:0020119 {source="DC-OMIM:300260", source="DOID:0060799", source="OMIM:300260", source="Orphanet:1762", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: disease_arises_from_structure CHR:9606-chrXq {source="https://orcid.org/0000-0002-4142-7153"} ! Xq (Human)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010284
name: Armfield syndrome
def: "X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." [Orphanet:85276]
subset: gard_rare {source="GARD:16742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85276"}
subset: ordo_malformation_syndrome {source="Orphanet:85276"}
subset: orphanet_rare {source="Orphanet:85276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Armfield syndrome" EXACT [Orphanet:85276]
synonym: "Armfield X-linked intellectual disability syndrome" EXACT [DOID:0050764, MONDO:Lexical, OMIM:300261]
synonym: "Armfield X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0050764, MONDO:Lexical, OMIM:300261]
synonym: "intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive" EXACT [OMIM:300261, OMIM:genemap2]
synonym: "intellectual disability syndrome, X-linked, Armfield type" EXACT [DOID:0050764]
synonym: "intellectual disability, X-linked, syndromic, Armfield type" RELATED [OMIM:300261]
synonym: "mental retardation syndrome, X-linked, Armfield type" EXACT DEPRECATED [DOID:0050764]
synonym: "mental retardation syndrome, X-linked, armfield type, X-linked recessive" EXACT [OMIM:300261, OMIM:genemap2]
synonym: "mental retardation, X-linked, syndromic, Armfield type" RELATED DEPRECATED [OMIM:300261]
synonym: "MRXSA" EXACT ABBREVIATION [DOID:0050764, MONDO:Lexical, OMIM:300261]
synonym: "syndromic X-linked intellectual disability Armfield type" EXACT [DOID:0050764]
synonym: "syndromic X-linked mental retardation Armfield type" EXACT DEPRECATED [DOID:0050764]
synonym: "X-linked intellectual disability, Armfield type" EXACT [DOID:0050764]
xref: DOID:0050764 {source="MONDO:equivalentTo"}
xref: GARD:16742 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85276", source="DOID:0050764", source="Orphanet:85276/attributed", source="Orphanet:85276/ntbt"}
xref: MEDGEN:375800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564551 {source="MONDO:equivalentTo"}
xref: OMIM:300261 {source="Orphanet:85276", source="DOID:0050764", source="MONDO:equivalentTo", source="Orphanet:85276/e"}
xref: Orphanet:85276 {source="OMIM:300261", source="DOID:0050764", source="MONDO:equivalentTo"}
xref: SCTID:719017003 {source="MONDO:equivalentTo"}
xref: UMLS:C1846057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375800"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85276", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300261", source="DOID:0050764", source="OMIM:300261", source="Orphanet:85276", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010285
name: syndromic X-linked intellectual disability Abidi type
def: "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." [Orphanet:85273]
subset: gard_rare {source="GARD:9157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85273"}
subset: ordo_malformation_syndrome {source="Orphanet:85273"}
subset: orphanet_rare {source="Orphanet:85273"}
subset: rare
synonym: "ABIDI X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:300262]
synonym: "ABIDI X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:300262]
synonym: "intellectual disability X-linked Abidi type" RELATED [GARD:0009157]
synonym: "intellectual disability, X-linked syndromic, Abidi type" EXACT [DOID:0060818]
synonym: "intellectual disability, X-linked, syndromic, Abidi type" RELATED [OMIM:300262]
synonym: "mental retardation, X-linked syndromic, Abidi type" EXACT DEPRECATED [DOID:0060818]
synonym: "mental retardation, X-linked, syndromic, Abidi type" RELATED DEPRECATED [OMIM:300262]
synonym: "MRXSAB" EXACT ABBREVIATION [DOID:0060818, MONDO:Lexical, OMIM:300262]
synonym: "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" RELATED [GARD:0009157]
synonym: "syndromic X-linked intellectual disability Abidi type" EXACT [DOID:0060818]
synonym: "syndromic X-linked mental retardation Abidi type" EXACT DEPRECATED [DOID:0060818]
synonym: "X-linked intellectual disability, Abidi type" RELATED [Orphanet:85273]
xref: DOID:0060818 {source="MONDO:equivalentTo"}
xref: GARD:9157 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060818", source="Orphanet:85273/attributed", source="Orphanet:85273/ntbt", source="Orphanet:85273"}
xref: MEDGEN:337376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535556 {source="DOID:0060818", source="Orphanet:85273/e", source="MONDO:equivalentTo", source="Orphanet:85273"}
xref: OMIM:300262 {source="DOID:0060818", source="Orphanet:85273/e", source="MONDO:equivalentTo", source="Orphanet:85273"}
xref: Orphanet:85273 {source="DOID:0060818", source="OMIM:300262", source="MONDO:equivalentTo"}
xref: UMLS:C1846056 {source="MEDGEN:337376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85273"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300262", source="DOID:0060818", source="OMIM:300262", source="Orphanet:85273", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010286
name: syndromic X-linked intellectual disability Siderius type
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85287"}
subset: ordo_malformation_syndrome {source="Orphanet:85287"}
subset: orphanet_rare {source="Orphanet:85287"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual deficit X-linked Siderius type" RELATED [GARD:0009704]
synonym: "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive" EXACT [OMIM:300263, OMIM:genemap2]
synonym: "intellectual disability syndrome, X-linked, Siderius type" EXACT [DOID:0060812]
synonym: "intellectual disability X-linked Siderius type" RELATED [GARD:0009704]
synonym: "intellectual disability, X-linked, syndromic, Siderius type" RELATED [OMIM:300263]
synonym: "mental retardation syndrome, X-linked, Siderius type" EXACT DEPRECATED [DOID:0060812]
synonym: "mental retardation X-linked Siderius type" RELATED DEPRECATED [GARD:0009704]
synonym: "mental retardation, X-linked, syndromic, Siderius type" RELATED DEPRECATED [OMIM:300263]
synonym: "MRXSSD" EXACT ABBREVIATION [DOID:0060812, MONDO:Lexical, OMIM:300263]
synonym: "Siderius Hamel syndrome" RELATED [GARD:0009704]
synonym: "Siderius X-linked intellectual disability syndrome" EXACT [DOID:0060812, MONDO:Lexical, OMIM:300263]
synonym: "Siderius X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060812, MONDO:Lexical, OMIM:300263]
synonym: "Siderius-Hamel syndrome" EXACT [DOID:0060812, OMIM:300263]
synonym: "syndromic X-linked intellectual disability Siderius type" EXACT CLINGEN_LABEL []
synonym: "X-linked intellectual disability Hamel type" RELATED [GARD:0009704]
synonym: "X-linked intellectual disability, Siderius type" RELATED [Orphanet:85287]
synonym: "X-linked mental retardation Hamel type" RELATED DEPRECATED [GARD:0009704]
xref: DOID:0060812 {source="MONDO:equivalentTo"}
xref: GARD:9704 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85287", source="Orphanet:85287/attributed", source="Orphanet:85287/ntbt", source="DOID:0060812"}
xref: MEDGEN:337375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537333 {source="Orphanet:85287", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"}
xref: OMIM:300263 {source="Orphanet:85287", source="MONDO:equivalentTo", source="Orphanet:85287/e", source="DOID:0060812"}
xref: Orphanet:85287 {source="OMIM:300263", source="MONDO:equivalentTo", source="DOID:0060812"}
xref: UMLS:C1846055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337375"}
is_a: MONDO:0015159 {source="Orphanet:85287"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300263", source="DOID:0060812", source="OMIM:300263", source="Orphanet:85287", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20672 {source="MONDO:mim2gene_medgen"} ! PHF8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010287
name: hereditary spastic paraplegia 16
def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2." [DOID:0110769, PMID:9254866]
subset: gard_rare {source="GARD:9585", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:100997"}
subset: orphanet_rare {source="Orphanet:100997"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary spastic paraplegia type 16" EXACT [DOID:0110769, MONDORULE:2]
synonym: "spastic paraplegia 16" RELATED [GARD:0009585]
synonym: "spastic paraplegia 16, X-linked" RELATED [MONDO:Lexical, OMIM:300266]
synonym: "spastic paraplegia 16, X-linked, complicated, X-linked recessive" EXACT [OMIM:300266, OMIM:genemap2]
synonym: "SPG16" EXACT ABBREVIATION [DOID:0110769, MONDO:Lexical, OMIM:300266, Orphanet:100997]
synonym: "X-linked spastic paraplegia 16" EXACT [DOID:0110769]
synonym: "X-linked spastic paraplegia type 16" EXACT [DOID:0110769]
xref: DOID:0110769 {source="MONDO:equivalentTo"}
xref: GARD:9585 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110769", source="Orphanet:100997", source="Orphanet:100997/attributed", source="Orphanet:100997/ntbt"}
xref: MEDGEN:375796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536643 {source="MONDO:equivalentTo", source="Orphanet:100997", source="Orphanet:100997/e"}
xref: OMIM:300266 {source="DOID:0110769", source="MONDO:equivalentTo", source="Orphanet:100997", source="Orphanet:100997/e"}
xref: Orphanet:100997 {source="DOID:0110769", source="MONDO:equivalentTo", source="OMIM:300266"}
xref: UMLS:C1846046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375796"}
is_a: MONDO:0019064 {source="DOID:0110769", source="MESH:C536643", source="MONDO:Redundant", source="OMIM:300266", source="Orphanet:100997/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010288
name: adrenomyodystrophy
def: "Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982." [Orphanet:977]
subset: gard_rare {source="GARD:562", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:977"}
subset: orphanet_rare {source="Orphanet:977"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenomyodystrophy" EXACT [OMIM:300270]
xref: GARD:562 {source="MONDO:GARD"}
xref: MEDGEN:337494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538051 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"}
xref: OMIM:300270 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"}
xref: Orphanet:977 {source="MONDO:equivalentTo", source="OMIM:300270"}
xref: SCTID:763311001 {source="MONDO:equivalentTo"}
xref: UMLS:C1846044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337494"}
is_a: MONDO:0005495 {source="Orphanet:977", source="Orphanet:977/inferred"} ! adrenal gland disorder
relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:977", source="https://orcid.org/0000-0001-5208-3432"} ! chronic primary adrenal insufficiency
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare

[Term]
id: MONDO:0010289
name: intellectual disability, X-linked 72
subset: gard_rare {source="GARD:22671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 72, X-linked recessive" EXACT [OMIM:300271, OMIM:genemap2]
synonym: "intellectual disability, X-linked 72" EXACT [MONDO:Lexical, OMIM:300271]
synonym: "intellectual disability, X-linked type 72" EXACT [MONDORULE:2, OMIM:300271]
synonym: "mental retardation, X-linked 72" RELATED DEPRECATED [MONDO:Lexical, OMIM:300271]
synonym: "mental retardation, X-linked type 72" EXACT DEPRECATED [MONDORULE:2, OMIM:300271]
synonym: "MRX72" RELATED DEPRECATED [MONDO:Lexical, OMIM:300271]
xref: DOID:0112059 {source="MONDO:equivalentTo"}
xref: GARD:22671 {source="MONDO:GARD"}
xref: MEDGEN:375793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564547 {source="MONDO:equivalentTo"}
xref: OMIM:300271 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300271"}
xref: UMLS:C1846038 {source="MEDGEN:375793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300271", source="OMIM:300271"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010290
name: goiter, multinodular 2
synonym: "goiter, multinodular 2" EXACT [MONDO:Lexical, OMIM:300273]
synonym: "goiter, multinodular, 2, X-linked dominant" EXACT [OMIM:300273, OMIM:genemap2]
synonym: "MNG2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300273]
xref: MEDGEN:337370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564546 {source="MONDO:equivalentTo"}
xref: OMIM:300273 {source="MONDO:equivalentTo"}
xref: UMLS:C1846033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337370"}
is_a: MONDO:0000334 {source="DC-OMIM:300273", source="MONDO:Redundant", source="OMIM:300273"} ! multinodular goiter
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010291
name: obsolete androgen insensitivity syndrome due to coactivator deficiency
synonym: "androgen insensitivity syndrome due to coactivator deficiency" RELATED [OMIM:300274]
xref: MESH:C564545
xref: OMIM:300274 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
replaced_by: MONDO:0019154

[Term]
id: MONDO:0010292
name: Uruguay Faciocardiomusculoskeletal syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "faciocardiomusculoskeletal syndrome, Uruguay type" RELATED [OMIM:300280]
synonym: "Fcms" RELATED [OMIM:300280]
synonym: "FCMSU" RELATED ABBREVIATION [OMIM:300280]
synonym: "URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome" RELATED [OMIM:300280]
synonym: "Uruguay Faciocardiomusculoskeletal syndrome" EXACT [OMIM:300280]
synonym: "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive" EXACT [OMIM:300280, OMIM:genemap2]
xref: DOID:0112148 {source="MONDO:equivalentTo"}
xref: MEDGEN:335320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564544 {source="MONDO:equivalentTo"}
xref: OMIM:300280 {source="MONDO:equivalentTo"}
xref: UMLS:C1846010 {source="MEDGEN:335320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0800462 {source="https://clinicalgenome.org/affiliation/40060/"} ! FHL1-related myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0010293
name: ectodermal dysplasia and immune deficiency
subset: gard_rare {source="GARD:9936", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98813"}
subset: orphanet_rare {source="Orphanet:98813"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anhidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844]
synonym: "anhidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813]
synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency" RELATED [OMIM:300291]
synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency" RELATED [OMIM:300291]
synonym: "EDA-ID" EXACT [OMIM:300291, Orphanet:98813]
synonym: "HED-ID" EXACT [OMIM:300291, Orphanet:98813]
synonym: "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia" RELATED [OMIM:300291]
synonym: "hypohidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844]
synonym: "hypohidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813]
synonym: "Xhm-Ed" RELATED [OMIM:300291]
xref: DOID:0081077 {source="MONDO:equivalentTo"}
xref: GARD:9936 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="Orphanet:98813", source="Orphanet:98813/attributed", source="Orphanet:98813/ntbt"}
xref: MEDGEN:375786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536181 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:1200360 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200761 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118844 {source="MONDO:equivalentTo"}
xref: OMIMPS:300291 {source="MONDO:equivalentTo"}
xref: Orphanet:238468 {source="OMIM:300291"}
xref: Orphanet:98813 {source="MONDO:equivalentTo", source="OMIM:300291"}
xref: SCTID:703525006 {source="MONDO:equivalentTo"}
xref: UMLS:C1846006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375786"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0016535 {source="Orphanet:98813"} ! hypohidrotic ectodermal dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300291"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0010294
name: X-linked severe congenital neutropenia
def: "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein." [https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3981", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86788"}
subset: orphanet_rare {source="Orphanet:86788"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutropenia, severe congenital, X-linked" RELATED [MONDO:Lexical, OMIM:300299]
synonym: "neutropenia, severe congenital, X-linked, X-linked recessive" EXACT [OMIM:300299, OMIM:genemap2]
synonym: "SCNX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300299]
synonym: "severe congenital neutropenia X-linked" RELATED [GARD:0003981]
synonym: "severe congenital neutropenia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked severe congenital neutropenia" EXACT CLINGEN_LABEL []
synonym: "Xln" RELATED [OMIM:300299]
xref: DOID:0112128 {source="MONDO:equivalentTo"}
xref: GARD:3981 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:86788/attributed", source="Orphanet:86788/ntbt", source="Orphanet:86788"}
xref: MEDGEN:335314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564539 {source="MONDO:equivalentTo"}
xref: NANDO:2200753 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:300299 {source="Orphanet:86788", source="MONDO:equivalentTo", source="Orphanet:86788/e"}
xref: Orphanet:86788 {source="MONDO:equivalentTo", source="OMIM:300299"}
xref: SCTID:718882006 {source="MONDO:equivalentTo"}
xref: UMLS:C1845987 {source="MONDO:equivalentTo", source="MEDGEN:335314", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="MESH:C564539", source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0018542 {source="DC-OMIM:300299", source="MONDO:Redundant", source="OMIM:300299", source="Orphanet:86788"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 {source="MONDO:mim2gene_medgen"} ! WAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked" xsd:anyURI {source="GARD:0003981"}

[Term]
id: MONDO:0010295
name: anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
def: "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." [Orphanet:69088]
subset: gard_rare {source="GARD:16681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69088"}
subset: orphanet_rare {source="Orphanet:69088"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" RELATED [MONDO:Lexical, OMIM:300301]
synonym: "ol-EDA-ID" EXACT [Orphanet:69088]
synonym: "OLEDAID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300301]
xref: GARD:16681 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:69088", source="Orphanet:69088/attributed", source="Orphanet:69088/ntbt"}
xref: MEDGEN:929406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564538 {source="MONDO:equivalentTo"}
xref: OMIM:300301 {source="MONDO:equivalentObsolete", source="Orphanet:69088", source="Orphanet:69088/e"}
xref: Orphanet:69088 {source="MONDO:equivalentTo", source="OMIM:300301"}
xref: SCTID:720986005 {source="MONDO:equivalentTo"}
xref: UMLS:C4303737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929406"}
is_a: MONDO:0017198 {source="Orphanet:69088", source="PMID:31633310"} ! osteopetrosis
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
is_a: MONDO:0019287 {source="MESH:C564538", source="Orphanet:69088"} ! ectodermal dysplasia syndrome
is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="MONDO:mim2gene_medgen"} ! IKBKG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5520" xsd:anyURI

[Term]
id: MONDO:0010296
name: immunodeficiency 61
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10007", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia X-linked type 2" RELATED [GARD:0010007]
synonym: "agammaglobulinemia, X-linked, type 2" RELATED [MONDO:Lexical, OMIM:300310]
synonym: "AGMX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300310]
synonym: "immunodeficiency 61, X-linked recessive" EXACT [OMIM:300310, OMIM:genemap2]
synonym: "XLA2" RELATED ABBREVIATION [OMIM:300310]
xref: DOID:0111999 {source="MONDO:equivalentTo"}
xref: GARD:10007 {source="MONDO:GARD"}
xref: MEDGEN:337462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538057 {source="MONDO:equivalentTo"}
xref: OMIM:300310 {source="MONDO:equivalentTo"}
xref: Orphanet:229717 {source="OMIM:300310"}
xref: Orphanet:47 {source="OMIM:300310"}
xref: UMLS:C1845903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337462"}
is_a: MONDO:0015977 {source="MESH:C538057", source="MONDO:Redundant", source="OMIM:300310"} ! agammaglobulinemia
is_a: MONDO:0021094 {source="OMIM:300310"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010297
name: FG syndrome 2
def: "Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FG syndrome 2" EXACT [MONDO:Lexical, OMIM:300321]
synonym: "FG syndrome caused by mutation in FLNA" EXACT [MONDO:design_pattern]
synonym: "FG syndrome type 2" EXACT [MONDORULE:1, OMIM:300321]
synonym: "FGS2" RELATED ABBREVIATION [GARD:0009923, MONDO:Lexical, OMIM:300321]
synonym: "FLNA FG syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:337461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300321 {source="GARD:0009923", source="MONDO:equivalentTo"}
xref: Orphanet:323 {source="OMIM:300321"}
xref: UMLS:C1845902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337461"}
is_a: MONDO:0002010 {source="DC-OMIM:300321", source="MONDO:Redundant"} ! FG syndrome
intersection_of: MONDO:0002010 ! FG syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 ! FLNA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9923/fg-syndrome-2" xsd:anyURI {source="GARD:0009923"}

[Term]
id: MONDO:0010298
name: Lesch-Nyhan syndrome
def: "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." [Orphanet:510]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1365"}
subset: ordo_disorder {source="Orphanet:510"}
subset: orphanet_rare {source="Orphanet:510"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [DOID:1919]
synonym: "deficiency of IMP pyrophosphorylase" EXACT [DOID:1919]
synonym: "HG-PRT deficiency" EXACT [DOID:1919]
synonym: "HPRT complete deficiency" EXACT [Orphanet:510]
synonym: "HPRT deficiency" RELATED [OMIM:300322]
synonym: "HPRT deficiency grade IV" EXACT [Orphanet:510]
synonym: "HPRT deficiency, complete" RELATED [OMIM:300322]
synonym: "HPRT deficiency, neurologic variant" RELATED [OMIM:300322]
synonym: "Hprt1 deficiency" RELATED [OMIM:300322]
synonym: "hypoxanthine guanine phospho-ribosyltransferase 1 deficiency" RELATED [GARD:0007226]
synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency" RELATED [OMIM:300322]
synonym: "hypoxanthine guanine phosphoribosyltransferase complete deficiency" EXACT [Orphanet:510]
synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency" BROAD EXCLUDE [DOID:1919]
synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" EXACT [Orphanet:510]
synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency" RELATED EXCLUDE [DOID:1919]
synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous]" BROAD EXCLUDE [DOID:1919]
synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency" RELATED EXCLUDE [DOID:1919]
synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])" RELATED [DOID:1919]
synonym: "Lesch - Nyhan syndrome" EXACT [DOID:1919]
synonym: "Lesch Nyhan disease" RELATED [GARD:0007226]
synonym: "Lesch Nyhan Syndrome" EXACT [NORD:1365]
synonym: "Lesch Nyhan syndrome" RELATED [GARD:0007226]
synonym: "Lesch-Nyhan syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300322]
synonym: "Lesch-Nyhan syndrome, neurologic variant" RELATED [OMIM:300322]
synonym: "Lesch-Nyhan syndrome, X-linked recessive" EXACT [OMIM:300322, OMIM:genemap2]
synonym: "LNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300322]
synonym: "X-linked hyperuricemia" EXACT [DOID:1919]
synonym: "X-linked hyperuricemia (disorder) [ambiguous]" EXACT [DOID:1919]
xref: DOID:1919 {source="MONDO:equivalentTo"}
xref: GARD:7226 {source="MONDO:GARD"}
xref: ICD10CM:E79.1 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e", source="Orphanet:510/specific"}
xref: icd11.foundation:1886495906 {source="Orphanet:510", source="MONDO:equivalentTo"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10057589 {source="Orphanet:510", source="Orphanet:510/e"}
xref: MEDGEN:9721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007926 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e"}
xref: NANDO:2200586 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61255 {source="DOID:1919", source="MONDO:equivalentTo"}
xref: NORD:1365 {source="MONDO:NORD"}
xref: OMIM:300322 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e"}
xref: Orphanet:510 {source="MONDO:equivalentTo", source="OMIM:300322"}
xref: SCTID:10406007 {source="DOID:1919", source="MONDO:equivalentTo"}
xref: SCTID:124275001 {source="DOID:1919"}
xref: SCTID:190917005 {source="DOID:1919"}
xref: SCTID:190918000 {source="DOID:1919"}
xref: SCTID:190921003 {source="DOID:1919"}
xref: SCTID:267451005 {source="DOID:1919"}
xref: SCTID:68655008 {source="DOID:1919"}
xref: SCTID:90924007 {source="DOID:1919"}
xref: UMLS:C0023374 {source="MEDGEN:9721", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61255"} ! syndromic disease
is_a: MONDO:0016088 {source="Orphanet:510"} ! hypoxanthine-guanine phosphoribosyltransferase deficiency
is_a: MONDO:0019254 {source="DOID:1919", source="MESH:D007926", source="MONDO:Redundant", source="Orphanet:510/inferred"} ! inborn disorder of purine or pyrimidine metabolism
relationship: disease_has_feature HP:0100716 {source="MONDO:Wikidata"} ! Self-injurious behavior
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5157 {source="MONDO:mim2gene_medgen"} ! HPRT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010299
name: hypoxanthine guanine phosphoribosyltransferase partial deficiency
def: "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." [Orphanet:79233]
subset: gard_rare {source="GARD:16710", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79233"}
subset: orphanet_rare {source="Orphanet:79233"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gout, HPRT-related" RELATED [OMIM:300323]
synonym: "HPRT deficiency, grade I" EXACT [Orphanet:79233]
synonym: "HPRT deficiency, partial" RELATED [OMIM:300323]
synonym: "HPRT partial deficiency" EXACT [Orphanet:79233]
synonym: "HPRT-related gout" EXACT [Orphanet:79233]
synonym: "HPRT-related hyperuricemia" EXACT [Orphanet:79233]
synonym: "Hprt1 deficiency, partial" RELATED [OMIM:300323]
synonym: "HPRT1 partial deficiency" EXACT [Orphanet:79233]
synonym: "hyperuricemia, HRPT-related, X-linked recessive" EXACT [OMIM:300323, OMIM:genemap2]
synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial" RELATED [OMIM:300323]
synonym: "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" EXACT [Orphanet:79233]
synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [Orphanet:79233]
synonym: "KELLEY-Seegmiller syndrome" RELATED [OMIM:300323]
synonym: "Kelley-Seegmiller syndrome" EXACT [Orphanet:79233]
xref: DOID:0112127 {source="MONDO:equivalentTo"}
xref: GARD:16710 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:79233/attributed", source="Orphanet:79233/ntbt", source="Orphanet:79233"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562583 {source="MONDO:equivalentTo"}
xref: OMIM:300323 {source="Orphanet:79233/e", source="MONDO:equivalentTo", source="Orphanet:79233"}
xref: Orphanet:79233 {source="MONDO:equivalentTo", source="OMIM:300323"}
xref: SCTID:238007004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82770"}
is_a: MONDO:0016088 {source="Orphanet:79233"} ! hypoxanthine-guanine phosphoribosyltransferase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5157 {source="MONDO:mim2gene_medgen"} ! HPRT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010300
name: intellectual disability, X-linked 53
subset: gard_rare {source="GARD:22672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 53" EXACT [MONDO:Lexical, OMIM:300324]
synonym: "mental retardation, X-linked 53" RELATED DEPRECATED [MONDO:Lexical, OMIM:300324]
synonym: "mental retardation, X-linked 53, X-linked recessive" EXACT [OMIM:300324, OMIM:genemap2]
synonym: "MRX53" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300324]
xref: DOID:0112047 {source="MONDO:equivalentTo"}
xref: GARD:22672 {source="MONDO:GARD"}
xref: MEDGEN:335296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564533 {source="MONDO:equivalentTo"}
xref: OMIM:300324 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300324"}
xref: UMLS:C1845889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335296"}
is_a: MONDO:0019181 {source="DC-OMIM:300324", source="OMIM:300324"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010301
name: obsolete thrombocythemia, X-linked
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3172" xsd:anyURI
is_obsolete: true
consider: MONDO:0019111

[Term]
id: MONDO:0010302
name: Ito hypomelanosis
def: "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." [Orphanet:435]
subset: gard_rare {source="GARD:2992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hi syndrome" EXACT [Orphanet:435]
synonym: "HMI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300337]
synonym: "Hypomelanosis of Ito" EXACT [NORD:1274]
synonym: "hypomelanosis of Ito" EXACT [MONDO:Lexical, OMIM:300337, Orphanet:435]
synonym: "Incontinentia pigmenti achromians" RELATED [OMIM:300337]
synonym: "Incontinentia pigmenti type 1" EXACT [Orphanet:435]
synonym: "Incontinentia pigmenti type 1 (formerly)" RELATED [GARD:0002992]
synonym: "Incontinentia pigmenti, type I" RELATED [OMIM:300337]
synonym: "Incontinentia pigmenti, type I, formerly" RELATED [OMIM:300337]
synonym: "IPA" RELATED ABBREVIATION [GARD:0002992]
synonym: "Ito" RELATED [GARD:0002992]
synonym: "Ito hypomelanosis" EXACT [OMIM:300337]
synonym: "pigmentary mosaicism, Ito type" EXACT [Orphanet:435]
xref: DOID:3156 {source="MONDO:equivalentTo"}
xref: GARD:2992 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:435/attributed", source="Orphanet:435/ntbt", source="Orphanet:435"}
xref: MEDGEN:5920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1274 {source="MONDO:NORD"}
xref: OMIM:300337 {source="Orphanet:435", source="MONDO:equivalentTo", source="Orphanet:435/e"}
xref: Orphanet:435 {source="MONDO:equivalentObsolete", source="OMIM:300337"}
xref: UMLS:C0022283 {source="MEDGEN:5920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019287 {source="Orphanet:435"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019290 {source="OMIM:300337", source="Orphanet:435"} ! hypopigmentation of the skin
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3598" xsd:anyURI

[Term]
id: MONDO:0010303
name: obsolete colobomatous microphthalmia
comment: Duplicate.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2533" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000170

[Term]
id: MONDO:0010304
name: Graves disease, susceptibility to, X-linked 1
subset: predisposition
synonym: "Graves disease, susceptibility to, X-linked" EXACT [OMIM:300351, OMIM:genemap2]
synonym: "Graves disease, susceptibility to, X-linked 1" EXACT [OMIM:300351]
synonym: "Graves disease, susceptibility to, X-linked 2" RELATED [OMIM:300351]
synonym: "Graves disease, susceptibility to, X-linked type 1" EXACT [MONDORULE:1, OMIM:300351]
synonym: "Grdx1" RELATED [OMIM:300351]
xref: MEDGEN:395552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300351 {source="MONDO:equivalentTo"}
xref: UMLS:C2678151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395552"}
is_a: MONDO:0020573 {source="OMIM:300351", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005364 {source="OMIM:300351", source="https://orcid.org/0000-0001-5208-3432"} ! Graves disease
relationship: predisposes_towards MONDO:0005364 {source="OMIM:300351"} ! Graves disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0010305
name: creatine transporter deficiency
def: "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." [Orphanet:52503]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1966"}
subset: ordo_disorder {source="Orphanet:52503"}
subset: orphanet_rare {source="Orphanet:52503"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300352]
synonym: "cerebral creatine deficiency syndrome 1" EXACT [DOID:0050800, MONDO:Lexical, OMIM:300352]
synonym: "cerebral creatine deficiency syndrome 1, X-linked recessive" EXACT [OMIM:300352, OMIM:genemap2]
synonym: "cerebral creatine deficiency syndrome type 1" EXACT [MONDORULE:1, OMIM:300352]
synonym: "creatine deficiency syndrome, X-linked" RELATED [OMIM:300352]
synonym: "creatine deficiency, X-linked" RELATED [GARD:0001608]
synonym: "creatine transporter defect" RELATED [OMIM:300352]
synonym: "creatine transporter deficiency" EXACT CLINGEN_LABEL [Orphanet:52503]
synonym: "intellectual disability, X-linked with seizures, short stature and midface hypoplasia" RELATED [GARD:0001608]
synonym: "intellectual disability, X-linked, with creatine Transport deficiency" RELATED [OMIM:300352]
synonym: "intellectual disability, X-linked, with creatine transport deficiency" RELATED [GARD:0001608]
synonym: "intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia" RELATED [OMIM:300352]
synonym: "mental retardation, X-linked with seizures, short stature and midface hypoplasia" RELATED DEPRECATED [GARD:0001608]
synonym: "mental retardation, X-linked, with creatine Transport deficiency" RELATED DEPRECATED [OMIM:300352]
synonym: "mental retardation, X-linked, with creatine transport deficiency" RELATED DEPRECATED [GARD:0001608]
synonym: "mental retardation, X-linked, with seizures, short stature, and midface hypoplasia" RELATED DEPRECATED [OMIM:300352]
synonym: "SLC6A8 deficiency" EXACT [DOID:0050800, Orphanet:52503]
synonym: "X-linked creatine deficiency" RELATED [GARD:0001608]
synonym: "X-linked creatine deficiency syndrome" RELATED [GARD:0001608]
synonym: "X-linked creatine transporter deficiency" RELATED [Orphanet:52503]
xref: DOID:0050800 {source="MONDO:equivalentTo"}
xref: GARD:1608 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:52503", source="Orphanet:52503/attributed", source="Orphanet:52503/ntbt"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:337451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535598 {source="MONDO:equivalentTo"}
xref: NANDO:1201035 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201301 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125665 {source="MONDO:equivalentTo"}
xref: NORD:1966 {source="MONDO:NORD"}
xref: OMIM:300352 {source="MONDO:equivalentTo", source="Orphanet:52503", source="DOID:0050800", source="Orphanet:52503/e"}
xref: Orphanet:52503 {source="OMIM:300352", source="MONDO:equivalentTo"}
xref: SCTID:698290008 {source="MONDO:equivalentTo"}
xref: UMLS:C1845862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337451"}
is_a: MONDO:0000456 {source="DOID:0050800", source="OMIM:300352", source="Orphanet:52503"} ! cerebral creatine deficiency syndrome
is_a: MONDO:0015159 {source="Orphanet:52503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11055 {source="MONDO:mim2gene_medgen"} ! SLC6A8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010306
name: X-linked intellectual disability, Cabezas type
def: "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome." [Orphanet:85293]
comment: OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. {source="OMIM:300354"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85293"}
subset: ordo_malformation_syndrome {source="Orphanet:85293"}
subset: orphanet_rare {source="Orphanet:85293"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cabezas syndrome" EXACT [Orphanet:85293]
synonym: "Cabezas syndrome; syndromic X-linked intellectual disability 15" EXACT [DOID:0060822]
synonym: "Cabezas syndrome; syndromic X-linked mental retardation 15" EXACT DEPRECATED [DOID:0060822]
synonym: "Cabezas type of X-linked syndromic intellectual disability" RELATED [GARD:0013244]
synonym: "Cul4B-related X-linked intellectual disability" RELATED [GARD:0013244]
synonym: "intellectual disability, X-linked, syndromic 15" RELATED [GARD:0013244, OMIM:300354]
synonym: "intellectual disability, X-linked, syndromic 15 (Cabezas type)" EXACT [DOID:0060822]
synonym: "intellectual disability, X-linked, syndromic, Cabezas type" RELATED [MONDO:Lexical, OMIM:300354]
synonym: "intellectual disability, X-linked, with short stature" EXACT [OMIM:300354]
synonym: "intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED [OMIM:300354]
synonym: "mental retardation, X-linked, syndromic 15" RELATED DEPRECATED [OMIM:300354]
synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type)" EXACT DEPRECATED [DOID:0060822]
synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive" EXACT [OMIM:300354, OMIM:genemap2]
synonym: "mental retardation, X-linked, syndromic, Cabezas type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300354]
synonym: "mental retardation, X-linked, with short stature" EXACT DEPRECATED [OMIM:300354]
synonym: "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED DEPRECATED [OMIM:300354]
synonym: "MRSS" EXACT ABBREVIATION [DOID:0060822]
synonym: "MRXS15" EXACT ABBREVIATION [DOID:0060822]
synonym: "MRXSC" EXACT ABBREVIATION [DOID:0060822, MONDO:Lexical, OMIM:300354]
synonym: "syndromic X-linked intellectual disability Cabezas type" EXACT [MONDO:0000826]
synonym: "X-linked intellectual disability with short stature" EXACT [DOID:0060822]
synonym: "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait" EXACT [DOID:0060822]
synonym: "X-linked intellectual disability, Cabezas type" EXACT CLINGEN_LABEL []
synonym: "X-linked mental retardation with short stature" EXACT DEPRECATED [DOID:0060822]
synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT DEPRECATED [DOID:0060822]
xref: DOID:0060822 {source="MONDO:equivalentTo"}
xref: GARD:13244 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060822", source="Orphanet:85293", source="Orphanet:85293/attributed", source="Orphanet:85293/ntbt"}
xref: MEDGEN:337334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300354 {source="Orphanet:85293/e", source="MONDO:equivalentTo", source="DOID:0060822", source="Orphanet:85293"}
xref: Orphanet:85293 {source="MONDO:equivalentTo", source="OMIM:300354", source="DOID:0060822"}
xref: SCTID:719811001 {source="MONDO:equivalentTo"}
xref: UMLS:C1845861 {source="MEDGEN:337334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85293"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300354", source="DOID:0060822", source="OMIM:300354", source="Orphanet:85293", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2555 {source="MONDO:mim2gene_medgen"} ! CUL4B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010307
name: intellectual disability, X-linked 73
subset: gard_rare {source="GARD:22673", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 73" EXACT [MONDO:Lexical, OMIM:300355]
synonym: "mental retardation, X-linked 73" RELATED DEPRECATED [MONDO:Lexical, OMIM:300355]
synonym: "mental retardation, X-linked 73, X-linked recessive" EXACT [OMIM:300355, OMIM:genemap2]
synonym: "MRX73" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300355]
xref: DOID:0112017 {source="MONDO:equivalentTo"}
xref: GARD:22673 {source="MONDO:GARD"}
xref: MEDGEN:335293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564528 {source="MONDO:equivalentTo"}
xref: OMIM:300355 {source="MONDO:equivalentTo"}
xref: UMLS:C1845860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335293"}
is_a: MONDO:0019181 {source="DC-OMIM:300355", source="OMIM:300355"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010308
name: thrombocytopenia, X-linked, with or without dyserythropoietic anemia
def: "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." [NCIT:C136653]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" EXACT [MONDO:Lexical, OMIM:300367]
synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive" EXACT [OMIM:300367, OMIM:genemap2]
synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia" EXACT OMO:0003005 []
synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anemia" EXACT [NCIT:C136653]
synonym: "XLTDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300367]
xref: MEDGEN:763703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C136653 {source="MONDO:equivalentTo"}
xref: OMIM:300367 {source="MONDO:equivalentTo"}
xref: Orphanet:67044 {source="OMIM:300367"}
xref: UMLS:C3550789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763703"}
is_a: MONDO:0003847 {source="OMIM:300367/inferred"} ! hereditary disease
is_a: MONDO:0100241 {source="DC-OMIM:300367", source="OMIM:300367"} ! inherited thrombocytopenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4170 {source="MONDO:mim2gene_medgen"} ! GATA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010309
name: intellectual disability, X-linked 42
subset: gard_rare {source="GARD:22674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 42" EXACT [MONDO:Lexical, OMIM:300372]
synonym: "mental retardation, X-linked 42" RELATED DEPRECATED [MONDO:Lexical, OMIM:300372]
synonym: "MRX42" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300372]
xref: DOID:0112057 {source="MONDO:equivalentTo"}
xref: GARD:22674 {source="MONDO:GARD"}
xref: MEDGEN:337321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564524 {source="MONDO:equivalentTo"}
xref: OMIM:300372 {source="MONDO:equivalentTo"}
xref: UMLS:C1845810 {source="MEDGEN:337321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300372", source="OMIM:300372"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0010310
name: osteopathia striata with cranial sclerosis
def: "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." [Orphanet:2780]
subset: gard_rare {source="GARD:4148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2780"}
subset: ordo_malformation_syndrome {source="Orphanet:2780"}
subset: orphanet_rare {source="Orphanet:2780"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperostosis generalisata with striations" EXACT [DOID:0060886, OMIM:300373, Orphanet:2780]
synonym: "OSCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300373]
synonym: "osteopathia striata - cranial sclerosis" RELATED [GARD:0004148]
synonym: "osteopathia striata cranial sclerosis" RELATED [GARD:0004148]
synonym: "osteopathia striata with cranial sclerosis" EXACT [MONDO:Lexical, OMIM:300373]
synonym: "Osteopathia striata with cranial sclerosis, X-linked dominant" EXACT [OMIM:300373, OMIM:genemap2]
synonym: "osteopathia striata-cranial sclerosis syndrome" RELATED [Orphanet:2780]
synonym: "Robinow-Unger syndrome" EXACT [DOID:0060886, Orphanet:2780]
xref: DOID:0060886 {source="MONDO:equivalentTo"}
xref: GARD:4148 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="DOID:0060886", source="Orphanet:2780/attributed", source="Orphanet:2780/ntbt", source="Orphanet:2780"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536053 {source="Orphanet:2780/e", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780"}
xref: OMIM:300373 {source="Orphanet:2780/e", source="DOID:0060886", source="MONDO:equivalentTo", source="Orphanet:2780"}
xref: Orphanet:2780 {source="OMIM:300373", source="DOID:0060886", source="MONDO:equivalentTo"}
xref: SCTID:254129003 {source="MONDO:equivalentTo"}
xref: UMLS:C0432268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96590"}
is_a: MONDO:0017198 {source="Orphanet:2780"} ! osteopetrosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26837 {source="MONDO:mim2gene_medgen"} ! AMER1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010311
name: Becker muscular dystrophy
def: "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:98895]
subset: gard_rare {source="GARD:5900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98895"}
subset: orphanet_rare {source="Orphanet:98895"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Becker dystrophinopathy" EXACT [Orphanet:98895]
synonym: "Becker muscular dystrophy" EXACT [OMIM:300376]
synonym: "Becker muscular dystrophy, X-linked recessive" EXACT [OMIM:300376, OMIM:genemap2]
synonym: "Becker's muscular dystrophy" RELATED [GARD:0005900]
synonym: "benign congenital myopathy" EXACT [DOID:9883]
synonym: "benign pseudohypertrophic muscular dystrophy" EXACT [DOID:9883]
synonym: "BMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300376, Orphanet:98895]
synonym: "muscular dystrophy pseudohypertrophic progressive, Becker type" RELATED [GARD:0005900]
synonym: "muscular dystrophy, Becker type" RELATED [GARD:0005900, MONDO:Lexical, OMIM:300376]
synonym: "muscular dystrophy, pseudohypertrophic progressive, Becker type" RELATED [OMIM:300376]
xref: DOID:9883 {source="MONDO:equivalentTo"}
xref: GARD:5900 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:98895", source="Orphanet:98895/ntbt", source="Orphanet:98895/inclusion"}
xref: icd11.foundation:690532643 {source="Orphanet:98895", source="MONDO:equivalentTo"}
xref: MedDRA:10059117 {source="Orphanet:98895", source="Orphanet:98895/e"}
xref: MEDGEN:182959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C570377 {source="https://github.com/monarch-initiative/mondo/issues/1601", source="MONDO:equivalentTo"}
xref: NANDO:1200489 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200865 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84587 {source="MONDO:equivalentTo"}
xref: OMIM:300376 {source="Orphanet:98895", source="MONDO:equivalentTo", source="Orphanet:98895/e", source="DOID:9883"}
xref: Orphanet:98895 {source="MONDO:equivalentTo", source="OMIM:300376"}
xref: SCTID:111501005 {source="DOID:9883"}
xref: SCTID:193222002 {source="DOID:9883"}
xref: SCTID:387732009 {source="MONDO:equivalentTo"}
xref: UMLS:C0917713 {source="MEDGEN:182959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020121 {source="https://orcid.org/0000-0002-4142-7153"} ! muscular dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 {source="MONDO:mim2gene_medgen"} ! DMD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy" xsd:anyURI {source="GARD:0005900"}

[Term]
id: MONDO:0010312
name: radial ray deficiency, X-linked
synonym: "radial ray deficiency" EXACT [OMIM:300378, OMIM:genemap2]
synonym: "radial ray deficiency, X-linked" EXACT [OMIM:300378]
synonym: "Rrdx" RELATED [OMIM:300378]
xref: MEDGEN:337012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564523 {source="MONDO:equivalentTo"}
xref: OMIM:300378 {source="MONDO:equivalentTo"}
xref: UMLS:C1845717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337012"}
is_a: MONDO:0003847 {source="MESH:C564523/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010313
name: intellectual disability, X-linked 63
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:5613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACSL4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ACSL4-related intellectual disability" RELATED [GARD:0005613]
synonym: "intellectual developmental disorder, X-linked 63, X-linked dominant" EXACT [OMIM:300387, OMIM:genemap2]
synonym: "intellectual disability, X-linked 63" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300387]
synonym: "intellectual disability, X-linked 68" RELATED [OMIM:300387]
synonym: "intellectual disability, X-linked type 63" EXACT [MONDORULE:2, OMIM:300387]
synonym: "mental retardation, X-linked 63" RELATED DEPRECATED [MONDO:Lexical, OMIM:300387]
synonym: "mental retardation, X-linked 68" RELATED DEPRECATED [OMIM:300387]
synonym: "mental retardation, X-linked type 63" EXACT DEPRECATED [MONDORULE:2, OMIM:300387]
synonym: "MRX63" RELATED DEPRECATED [MONDO:Lexical, OMIM:300387]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ACSL4" EXACT [MONDO:design_pattern]
xref: DOID:0112050 {source="MONDO:equivalentTo"}
xref: GARD:5613 {source="MONDO:GARD"}
xref: MEDGEN:337002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564522 {source="MONDO:equivalentTo"}
xref: OMIM:300387 {source="MONDO:equivalentTo"}
xref: UMLS:C1845672 {source="MEDGEN:337002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300387", source="MONDO:Redundant", source="OMIM:300387"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3571 ! ACSL4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3571 {source="MONDO:mim2gene_medgen"} ! ACSL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010314
name: polymicrogyria, bilateral perisylvian, X-linked
subset: gard_rare {source="GARD:15256", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BPP" RELATED ABBREVIATION [OMIM:300388]
synonym: "BPPX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300388]
synonym: "perisylvian syndrome, congenital bilateral" RELATED [OMIM:300388]
synonym: "PMGX" RELATED ABBREVIATION [OMIM:300388]
synonym: "polymicrogyria, bilateral perisylvian, X-linked" EXACT [MONDO:Lexical, OMIM:300388]
synonym: "polymicrogyria, bilateral perisylvian, X-linked dominant" EXACT [OMIM:300388, OMIM:genemap2]
xref: GARD:15256 {source="MONDO:GARD"}
xref: OMIM:300388 {source="MONDO:equivalentTo"}
xref: Orphanet:268940 {source="OMIM:300388"}
xref: Orphanet:98889 {source="OMIM:300388"}
xref: SCTID:438583008 {source="MONDO:equivalentTo"}
is_a: MONDO:0020340 {source="Orphanet:98889/btnt"} ! bilateral perisylvian polymicrogyria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010315
name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
def: "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." [Orphanet:276]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276"}
subset: orphanet_rare {source="Orphanet:276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunodeficiency 4" RELATED [OMIM:300400]
synonym: "SCID, X-linked" RELATED [OMIM:300400]
synonym: "SCID-X1" EXACT [DOID:0060013]
synonym: "SCIDX" RELATED ABBREVIATION [OMIM:300400]
synonym: "SCIDX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300400, Orphanet:276]
synonym: "severe combined immunodeficiency T- B+ due to gamma chain deficiency" RELATED [GARD:0005618]
synonym: "severe combined immunodeficiency T- B+, X-linked" RELATED [GARD:0005618]
synonym: "severe combined immunodeficiency, X-linked" RELATED [MONDO:Lexical, OMIM:300400]
synonym: "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:300400]
synonym: "severe combined immunodeficiency, X-linked, X-linked recessive" EXACT [OMIM:300400, OMIM:genemap2]
synonym: "T-B+ SCID due to gamma chain deficiency" EXACT [Orphanet:276]
synonym: "T-B+ severe combined immunodeficiency due to gamma chain deficiency" EXACT CLINGEN_LABEL [Orphanet:276]
synonym: "T-B+ severe combined immunodeficiency, X-linked" EXACT [Orphanet:276]
synonym: "thymic epithelial hypoplasia" EXACT [DOID:0060013]
synonym: "X-linked SCID" RELATED [GARD:0005618]
synonym: "X-linked severe combined immunodeficiency" EXACT [DOID:0060013, NCIT:C4682]
synonym: "X-SCID" RELATED [GARD:0005618]
synonym: "XSCID" EXACT ABBREVIATION [DOID:0060013]
xref: DOID:0060013 {source="EFO:0005555", source="MONDO:equivalentTo"}
xref: EFO:0005555 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5618 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:276/attributed", source="Orphanet:276/ntbt", source="Orphanet:276"}
xref: MEDGEN:220906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053632 {source="DOID:0060013"}
xref: NANDO:1200321 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200694 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4682 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo"}
xref: OMIM:300400 {source="DOID:0060013", source="Orphanet:276/e", source="MONDO:equivalentTo", source="Orphanet:276"}
xref: Orphanet:276 {source="MONDO:equivalentTo", source="OMIM:300400"}
xref: SCTID:203592006 {source="DOID:0060013", source="EFO:0005555", source="MONDO:equivalentTo"}
xref: SCTID:234569003 {source="DOID:0060013"}
xref: UMLS:C1279481 {source="MEDGEN:220906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031520 {source="DOID:0060013", source="MONDO:0010315/inferred", source="MONDO:Redundant", source="NCIT:C4682", source="OMIM:300400", source="Orphanet:276/inferred"} ! familial severe combined immunodeficiency
is_a: MONDO:0044200 {source="Orphanet:276", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency
relationship: disease_has_feature HP:0004430 ! Severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6010 {source="MONDO:mim2gene_medgen"} ! IL2RG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010316
name: FG syndrome 3
synonym: "FG syndrome 3" EXACT [MONDO:Lexical, OMIM:300406]
synonym: "FGS3" RELATED ABBREVIATION [GARD:0009924, MONDO:Lexical, OMIM:300406]
xref: MEDGEN:375687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300406 {source="GARD:0009924", source="MONDO:equivalentTo"}
xref: Orphanet:323 {source="OMIM:300406"}
xref: UMLS:C1845567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375687"}
is_a: MONDO:0002010 {source="DC-OMIM:300406"} ! FG syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9924/fg-syndrome-3" xsd:anyURI {source="GARD:0009924"}

[Term]
id: MONDO:0010317
name: intellectual disability, X-linked, with or without seizures, arx-related
subset: gard_rare {source="GARD:5614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARX-related intellectual disability" RELATED [GARD:0005614]
synonym: "intellectual developmental disorder, X-linked 29, X-linked recessive" EXACT [OMIM:300419, OMIM:genemap2]
synonym: "intellectual disability, X-linked 29" RELATED [OMIM:300419]
synonym: "intellectual disability, X-linked 32" RELATED [OMIM:300419]
synonym: "intellectual disability, X-linked 33" RELATED [OMIM:300419]
synonym: "intellectual disability, X-linked 38" RELATED [OMIM:300419]
synonym: "intellectual disability, X-linked 43" RELATED [OMIM:300419]
synonym: "intellectual disability, X-linked 52" RELATED [MONDO:Lexical, OMIM:300504]
synonym: "intellectual disability, X-linked 54" RELATED [OMIM:300419]
synonym: "intellectual disability, X-linked 76" RELATED [OMIM:300419]
synonym: "intellectual disability, X-linked 87" RELATED [OMIM:300419]
synonym: "intellectual disability, X-linked, with or without seizures, ARX-related" RELATED [MONDO:Lexical, OMIM:300419]
synonym: "intellectual disability, X-linked, with or without seizures, arx-RELATED" RELATED [OMIM:300419]
synonym: "mental retardation, X-linked 29" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked 32" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked 33" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked 38" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked 43" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked 52" RELATED DEPRECATED [MONDO:Lexical, OMIM:300504]
synonym: "mental retardation, X-linked 54" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked 76" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked 87" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked, with or without seizures, arx-RELATED" RELATED DEPRECATED [OMIM:300419]
synonym: "mental retardation, X-linked, with or without seizures, arx-related" RELATED DEPRECATED [MONDO:Lexical, OMIM:300419]
synonym: "MRX52" RELATED DEPRECATED [MONDO:Lexical, OMIM:300504]
synonym: "MRXARX" RELATED DEPRECATED [MONDO:Lexical, OMIM:300419]
xref: DOID:0112021 {source="MONDO:equivalentTo"}
xref: GARD:5614 {source="MONDO:GARD"}
xref: MEDGEN:208681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563150 {source="MONDO:equivalentTo"}
xref: MESH:C564502 {source="MONDO:equivalentObsolete"}
xref: OMIM:300419 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300419"}
xref: UMLS:C0796244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208681"}
is_a: MONDO:0019181 {source="DC-OMIM:300419", source="DC-OMIM:300504", source="OMIM:300419", source="OMIM:300504"} ! non-syndromic X-linked intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010318
name: FG syndrome 4
def: "Any FG syndrome in which the cause of the disease is a mutation in the CASK gene." [MONDO:patterns/disease_series_by_gene]
subset: otar {source="MONDO:OTAR"}
synonym: "CASK FG syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "cask FG syndrome" EXACT [MONDO:design_pattern]
synonym: "FG syndrome 4" EXACT [GARD:0009925, MONDO:Lexical, OMIM:300422]
synonym: "FG syndrome caused by mutation in CASK" EXACT []
synonym: "FG syndrome caused by mutation in cask" EXACT [MONDO:design_pattern]
synonym: "FG syndrome type 4" EXACT [MONDORULE:1, OMIM:300422]
synonym: "FGS4" RELATED ABBREVIATION [GARD:0009925, MONDO:Lexical, OMIM:300422]
synonym: "intellectual disability, X-linked, with or without Nystagmus" RELATED [OMIM:300422]
synonym: "mental retardation, with or without nystagmus" EXACT [OMIM:300422, OMIM:genemap2]
synonym: "mental retardation, X-linked, with or without Nystagmus" RELATED DEPRECATED [OMIM:300422]
synonym: "X-linked intellectual disability with or without nystagmus" RELATED [GARD:0009925]
xref: MEDGEN:336965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300422 {source="GARD:0009925", source="MONDO:equivalentTo"}
xref: Orphanet:323 {source="OMIM:300422"}
xref: UMLS:C1845546 {source="MEDGEN:336965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002010 {source="DC-OMIM:300422", source="MONDO:Redundant"} ! FG syndrome
intersection_of: MONDO:0002010 ! FG syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1497 ! CASK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1497 {source="MONDO:mim2gene_medgen"} ! CASK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus" xsd:anyURI {source="GARD:0009925"}

[Term]
id: MONDO:0010319
name: syndromic X-linked intellectual disability Hedera type
def: "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported." [Orphanet:93952]
subset: gard_rare {source="GARD:16834", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93952"}
subset: orphanet_rare {source="Orphanet:93952"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive" EXACT [OMIM:300423, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic, Hedera type" EXACT [DOID:0060806, MONDO:Lexical, OMIM:300423]
synonym: "intellectual disability, X-linked, with epilepsy" RELATED [OMIM:300423]
synonym: "mental retardation, X-linked, syndromic, Hedera type" EXACT DEPRECATED [DOID:0060806, MONDO:Lexical, OMIM:300423]
synonym: "mental retardation, X-linked, with epilepsy" RELATED DEPRECATED [OMIM:300423]
synonym: "MRXE" EXACT ABBREVIATION [DOID:0060806]
synonym: "MRXSH" EXACT ABBREVIATION [DOID:0060806, MONDO:Lexical, OMIM:300423, Orphanet:93952]
synonym: "X-linked intellectual disability with epilepsy" EXACT [DOID:0060806]
synonym: "X-linked intellectual disability, Hedera type" RELATED [Orphanet:93952]
synonym: "X-linked mental retardation with epilepsy" EXACT DEPRECATED [DOID:0060806]
xref: DOID:0060806 {source="MONDO:equivalentTo"}
xref: GARD:16834 {source="MONDO:GARD"}
xref: MEDGEN:337257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564516 {source="MONDO:equivalentTo"}
xref: OMIM:300423 {source="MONDO:equivalentTo", source="Orphanet:93952", source="DOID:0060806", source="Orphanet:93952/e"}
xref: Orphanet:2076 {source="OMIM:300423"}
xref: Orphanet:93952 {source="MONDO:equivalentTo", source="OMIM:300423", source="DOID:0060806"}
xref: UMLS:C1845543 {source="MEDGEN:337257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016160 {source="Orphanet:93952"} ! X-linked intellectual disability-epilepsy syndrome
is_a: MONDO:0020119 {source="DOID:0060806", source="MONDO:Redundant", source="OMIM:300423", source="Orphanet:93952/inferred", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0100146 {source="https://clinicalgenome.org/affiliation/40006/"} ! ATP6AP2-related disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18305 {source="MONDO:mim2gene_medgen"} ! ATP6AP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010320
name: retinitis pigmentosa 23
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OFD1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 23" EXACT [MONDO:Lexical, OMIM:300424]
synonym: "retinitis pigmentosa 23, X-linked recessive" EXACT [OMIM:300424, OMIM:genemap2]
synonym: "retinitis pigmentosa caused by mutation in OFD1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 23" EXACT [DOID:0110412, MONDORULE:2, OMIM:300424]
synonym: "RP 23" RELATED [GARD:0010391]
synonym: "RP23" EXACT ABBREVIATION [DOID:0110412, MONDO:Lexical, OMIM:300424]
xref: DOID:0110412 {source="MONDO:equivalentTo"}
xref: GARD:10391 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110412", source="MONDO:relatedTo"}
xref: MEDGEN:238456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300424 {source="DOID:0110412", source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:300424"}
xref: UMLS:C1419610 {source="MEDGEN:238456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:300424", source="DOID:0110412", source="MONDO:Redundant", source="OMIM:300424"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 ! OFD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 {source="MONDO:mim2gene_medgen"} ! OFD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10391/retinitis-pigmentosa-23" xsd:anyURI {source="GARD:0010391"}

[Term]
id: MONDO:0010321
name: autism, susceptibility to, X-linked 1
subset: predisposition
synonym: "autism susceptibility, X-linked 1" EXACT [OMIM:300425, OMIM:genemap2]
synonym: "autism, susceptibility to, X-linked 1" EXACT [MONDO:Lexical, OMIM:300425]
synonym: "autism, susceptibility to, X-linked type 1" EXACT [MONDORULE:1, OMIM:300425]
synonym: "AUTSX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300425]
synonym: "susceptibility to X-linked autism 1" RELATED [OMIM:300425]
xref: MEDGEN:335205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300425 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:300425"}
xref: UMLS:C1845540 {source="MEDGEN:335205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 {source="OMIM:300425"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14289 ! NLGN3
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14289 {source="MONDO:mim2gene_medgen"} ! NLGN3
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010322
name: intellectual disability, X-linked 2
subset: gard_rare {source="GARD:22675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 2" EXACT [MONDO:Lexical, OMIM:300428]
synonym: "mental retardation, X-linked 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:300428]
synonym: "MRX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300428]
xref: DOID:0112016 {source="MONDO:equivalentTo"}
xref: GARD:22675 {source="MONDO:GARD"}
xref: MEDGEN:162922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563135 {source="MONDO:equivalentTo"}
xref: OMIM:300428 {source="MONDO:equivalentTo"}
xref: UMLS:C0796207 {source="MEDGEN:162922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300428", source="OMIM:300428"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0010323
name: Atkin-Flaitz syndrome
def: "Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." [Orphanet:1193]
subset: gard_rare {source="GARD:3537", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1193"}
subset: ordo_malformation_syndrome {source="Orphanet:1193"}
subset: orphanet_rare {source="Orphanet:1193"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Atkin syndrome" RELATED [OMIM:300431]
synonym: "Atkin-Flaitz syndrome" EXACT [OMIM:300431]
synonym: "X-linked intellectual disability, Atkin type" EXACT [Orphanet:1193]
xref: GARD:3537 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1193/attributed", source="Orphanet:1193/ntbt", source="Orphanet:1193"}
xref: MEDGEN:163230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300431 {source="Orphanet:1193/e", source="MONDO:equivalentTo", source="Orphanet:1193"}
xref: Orphanet:1193 {source="MONDO:equivalentTo", source="OMIM:300431"}
xref: SCTID:718577005 {source="MONDO:equivalentTo"}
xref: UMLS:C0796206 {source="MONDO:equivalentTo", source="MEDGEN:163230", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:1193", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1193", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0010324
name: intellectual disability, X-linked 81
subset: gard_rare {source="GARD:22676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 81" EXACT [MONDO:Lexical, OMIM:300433]
synonym: "mental retardation, X-linked 81" RELATED DEPRECATED [MONDO:Lexical, OMIM:300433]
synonym: "mental retardation, X-linked 81, X-linked recessive" EXACT [OMIM:300433, OMIM:genemap2]
synonym: "MRX81" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300433]
xref: DOID:0112033 {source="MONDO:equivalentTo"}
xref: GARD:22676 {source="MONDO:GARD"}
xref: MEDGEN:335203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564515 {source="MONDO:equivalentTo"}
xref: OMIM:300433 {source="MONDO:equivalentTo"}
xref: UMLS:C1845531 {source="MEDGEN:335203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300433", source="OMIM:300433"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010325
name: X-linked intellectual disability, Stocco dos Santos type
subset: gard_rare {source="GARD:1133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85288"}
subset: ordo_malformation_syndrome {source="Orphanet:85288"}
subset: orphanet_rare {source="Orphanet:85288"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type" EXACT [OMIM:300434, OMIM:genemap2]
synonym: "intellectual disability, Stocco dos Santos type" RELATED [GARD:0001133]
synonym: "intellectual disability, X-linked, Stocco Dos Santos type" RELATED [OMIM:300434]
synonym: "mental retardation, Stocco dos Santos type" RELATED DEPRECATED [GARD:0001133]
synonym: "mental retardation, X-linked, Stocco Dos Santos type" RELATED DEPRECATED [OMIM:300434]
synonym: "SDSX" RELATED DEPRECATED [OMIM:300434]
synonym: "Sdsx" RELATED [OMIM:300434]
synonym: "Stocco dos Santos syndrome" RELATED [GARD:0001133]
synonym: "Stocco DOS Santos X-linked intellectual disability syndrome" RELATED [OMIM:300434]
synonym: "Stocco DOS Santos X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300434]
xref: DOID:0112126 {source="MONDO:equivalentTo"}
xref: GARD:1133 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85288", source="Orphanet:85288/attributed", source="Orphanet:85288/ntbt"}
xref: MEDGEN:335202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537495 {source="MONDO:equivalentTo"}
xref: OMIM:300434 {source="Orphanet:85288", source="MONDO:equivalentTo", source="Orphanet:85288/e"}
xref: Orphanet:85288 {source="MONDO:equivalentTo", source="OMIM:300434"}
xref: SCTID:718910006 {source="MONDO:equivalentTo"}
xref: UMLS:C1845530 {source="MEDGEN:335202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="OMIM:300434", source="Orphanet:85288", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29215 {source="MONDO:mim2gene_medgen"} ! SHROOM4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010326
name: intellectual disability, X-linked 46
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARHGEF6 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, X-linked 46" EXACT [MONDO:Lexical, OMIM:300436]
synonym: "intellectual disability, X-linked type 46" EXACT [MONDORULE:2, OMIM:300436]
synonym: "mental retardation, X-linked 46" RELATED DEPRECATED [MONDO:Lexical, OMIM:300436]
synonym: "mental retardation, X-linked 46, X-linked recessive" EXACT [OMIM:300436, OMIM:genemap2]
synonym: "mental retardation, X-linked type 46" EXACT DEPRECATED [MONDORULE:2, OMIM:300436]
synonym: "MRX46" RELATED DEPRECATED [MONDO:Lexical, OMIM:300436]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6" EXACT [MONDO:design_pattern]
xref: DOID:0112055 {source="MONDO:equivalentTo"}
xref: GARD:22677 {source="MONDO:GARD"}
xref: MEDGEN:337255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564513 {source="MONDO:equivalentTo"}
xref: OMIM:300436 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300436"}
xref: UMLS:C1845526 {source="MEDGEN:337255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300436", source="MONDO:Redundant", source="OMIM:300436"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/685 ! ARHGEF6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/685 {source="MONDO:mim2gene_medgen"} ! ARHGEF6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010327
name: HSD10 mitochondrial disease
def: "A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." [Orphanet:391417]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10716", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391417"}
subset: orphanet_rare {source="Orphanet:391417"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17 beta-hydroxysteroid dehydrogenase type 10 deficiency" RELATED [GARD:0010716]
synonym: "17-beta-hydroxysteroid dehydrogenase 10 deficiency" EXACT [OMIM:300438]
synonym: "17-beta-hydroxysteroid dehydrogenase X deficiency" EXACT [OMIM:300438]
synonym: "2-methyl-3-hydroxybutyric aciduria" EXACT [Orphanet:391417]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency" EXACT [OMIM:300438, Orphanet:391417]
synonym: "2M3HBA" RELATED ABBREVIATION [GARD:0010716]
synonym: "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency" RELATED [GARD:0010716]
synonym: "3-hydroxyacyl-CoA dehydrogenase 2 deficiency" EXACT [OMIM:300438]
synonym: "3H2MBD deficiency" RELATED [GARD:0010716]
synonym: "chorioathetosis with mental retardation and abnormal behavior" EXACT DEPRECATED [OMIM:300220]
synonym: "chorioathetosis with mental retardation and abnormal behaviour" EXACT OMO:0003005 []
synonym: "HSD10 deficiency" EXACT [OMIM:300438, Orphanet:391417]
synonym: "HSD10 deficiency, atypical type" NARROW [DOID:0060810, Orphanet:85295]
synonym: "HSD10 mitochondrial disease" EXACT CLINGEN_LABEL [OMIM:300438]
synonym: "HSD10 mitochondrial disease, X-linked dominant" EXACT [OMIM:300438, OMIM:genemap2]
synonym: "HSD10MD" EXACT ABBREVIATION [OMIM:300438]
synonym: "HSD17B10 deficiency" EXACT [OMIM:300438]
synonym: "hydroxyacyl-CoA dehydrogenase II deficiency" RELATED [GARD:0010716]
synonym: "mental retardation with chorioathetosis and abnormal behavior" EXACT DEPRECATED [OMIM:300220]
synonym: "mental retardation with chorioathetosis and abnormal behaviour" EXACT OMO:0003005 []
synonym: "mental retardation, X-linked syndromic 10" EXACT DEPRECATED [DOID:0060810]
synonym: "mental retardation, X-linked, syndromic 10" EXACT DEPRECATED [MONDO:Lexical, OMIM:300220]
synonym: "mental retardation, X-linked, syndromic type 10" EXACT DEPRECATED [MONDORULE:2, OMIM:300220]
synonym: "MHBD deficiency" EXACT [OMIM:300438, Orphanet:391417]
synonym: "MRXS10" EXACT DEPRECATED [DOID:0060810, MONDO:Lexical, OMIM:300220]
synonym: "syndromic X-linked intellectual disability type 10" NARROW [MONDO:0010272, Orphanet:85295]
synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" NARROW [DOID:0060810, Orphanet:85295]
synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" NARROW OMO:0003005 []
xref: DOID:0060810 {source="MONDO:equivalentTo"}
xref: GARD:10716 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:391417", source="Orphanet:391417/attributed", source="Orphanet:391417/ntbt"}
xref: ICD10CM:G25.5 {source="DOID:0060810", source="Orphanet:85295/attributed", source="Orphanet:85295/ntbt", source="Orphanet:85295"}
xref: MEDGEN:781653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536080 {source="MONDO:equivalentTo"}
xref: MESH:C564560 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:300220 {source="Orphanet:85295/e", source="MONDO:equivalentObsolete", source="DOID:0060810"}
xref: OMIM:300438 {source="Orphanet:391417", source="MONDO:equivalentTo", source="Orphanet:391417/e", source="MONDO:preferredExternal", source="Orphanet:85295"}
xref: Orphanet:391417 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:300438"}
xref: Orphanet:85295 {source="OMIM:300220", source="DOID:0060810", source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:791000124107 {source="MONDO:equivalentTo"}
xref: UMLS:C3266731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:781653"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0044970 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mitochondrial disease
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:391417", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4800 {source="MONDO:mim2gene_medgen"} ! HSD17B10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010328
name: alpha-thalassemia-myelodysplastic syndrome
def: "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." [Orphanet:231401]
subset: gard_rare {source="GARD:17167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231401"}
subset: orphanet_rare {source="Orphanet:231401"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired haemoglobin H disease" EXACT OMO:0003005 []
synonym: "acquired HbH disease" EXACT [Orphanet:231401]
synonym: "acquired hemoglobin H disease" EXACT [Orphanet:231401]
synonym: "ALPHA-thalassemia myelodysplasia syndrome" RELATED [MONDO:Lexical, OMIM:300448]
synonym: "alpha-thalassemia myelodysplasia syndrome, somatic" EXACT [OMIM:300448, OMIM:genemap2]
synonym: "ATMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300448, Orphanet:231401]
synonym: "Haemoglobin H disease, acquired" RELATED OMO:0003005 []
synonym: "Hemoglobin H disease, acquired" RELATED [OMIM:300448]
xref: DOID:0112125 {source="MONDO:equivalentTo"}
xref: GARD:17167 {source="MONDO:GARD"}
xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:231401", source="Orphanet:231401/attributed", source="Orphanet:231401/ntbt"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:108433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563023 {source="MONDO:equivalentTo"}
xref: OMIM:300448 {source="MONDO:equivalentTo", source="Orphanet:231401", source="Orphanet:231401/e"}
xref: Orphanet:231401 {source="MONDO:equivalentTo", source="OMIM:300448"}
xref: SCTID:307343001 {source="MONDO:equivalentTo"}
xref: UMLS:C0585216 {source="MEDGEN:108433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
relationship: excluded_subClassOf MONDO:0021141 {source="https://orcid.org/0000-0001-5208-3432", comment="acquired through somatic mutations"} ! acquired
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI

[Term]
id: MONDO:0010329
name: intellectual disability, X-linked 77
subset: gard_rare {source="GARD:22678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 77" EXACT [MONDO:Lexical, OMIM:300454]
synonym: "mental retardation, X-linked 77" RELATED DEPRECATED [MONDO:Lexical, OMIM:300454]
synonym: "mental retardation, X-linked 77, X-linked recessive" EXACT [OMIM:300454, OMIM:genemap2]
synonym: "MRX77" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300454]
xref: DOID:0112039 {source="MONDO:equivalentTo"}
xref: GARD:22678 {source="MONDO:GARD"}
xref: MEDGEN:335199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564511 {source="MONDO:equivalentTo"}
xref: OMIM:300454 {source="MONDO:equivalentTo"}
xref: UMLS:C1845499 {source="MEDGEN:335199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300454", source="OMIM:300454"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010330
name: obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome
def: "OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." [Orphanet:247522]
comment: Reason: out of scope. Requested by ClinGen retinal experts to obsolete this term.
subset: ordo_disorder {source="Orphanet:247522"}
synonym: "retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness" RELATED [OMIM:300455]
xref: DOID:0112124 {source="MONDO:obsoleteEquivalent"}
xref: GARD:17190 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C567595 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:300455 {source="Orphanet:247522", source="MONDO:obsoleteEquivalent", source="Orphanet:247522/e"}
xref: Orphanet:247522 {source="MONDO:obsoleteEquivalent", source="OMIM:300455"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0010331
name: coronary heart disease, susceptibility to, 3
subset: predisposition
synonym: "Chds3" RELATED [OMIM:300464]
synonym: "coronary heart disease, susceptibility to, 3" EXACT [OMIM:300464]
synonym: "coronary heart disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:300464]
xref: MEDGEN:337240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300464 {source="MONDO:equivalentTo"}
xref: UMLS:C1845454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337240"}
is_a: MONDO:0020573 {source="OMIM:300464", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
relationship: predisposes_towards MONDO:0005010 {source="OMIM:300464"} ! coronary artery disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0010332
name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
def: "An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." [Orphanet:85280]
subset: gard_rare {source="GARD:16745", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85280"}
subset: ordo_malformation_syndrome {source="Orphanet:85280"}
subset: orphanet_rare {source="Orphanet:85280"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cubitus valgus with intellectual disability and unusual facies" RELATED [OMIM:300471]
synonym: "cubitus valgus with mental retardation and unusual facies" RELATED DEPRECATED [OMIM:300471]
synonym: "Cubitus valgus with mental retardation and unusual facies, X-linked recessive" EXACT [OMIM:300471, OMIM:genemap2]
xref: GARD:16745 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85280", source="Orphanet:85280/attributed", source="Orphanet:85280/ntbt"}
xref: MEDGEN:1801270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564510 {source="MONDO:equivalentTo"}
xref: OMIM:300471 {source="MONDO:equivalentTo", source="Orphanet:85280", source="Orphanet:85280/e"}
xref: Orphanet:85280 {source="OMIM:300471", source="MONDO:equivalentTo"}
xref: UMLS:C5677056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801270"}
is_a: MONDO:0015159 {source="Orphanet:85280"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85280", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010333
name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
def: "A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." [Orphanet:52055]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12486", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:52055"}
subset: ordo_malformation_syndrome {source="Orphanet:52055"}
subset: orphanet_rare {source="Orphanet:52055"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome" RELATED [GARD:0012486]
synonym: "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive" EXACT [OMIM:300472, OMIM:genemap2]
synonym: "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia" EXACT [DOID:0060816]
synonym: "corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia" RELATED [OMIM:300472]
synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia" EXACT DEPRECATED [DOID:0060816]
synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia" RELATED DEPRECATED [OMIM:300472]
synonym: "Graham-Cox syndrome" EXACT [DOID:0060816, Orphanet:52055]
synonym: "intellectual disability, X-linked, syndromic 28" EXACT [DOID:0060816, OMIM:300472]
synonym: "mental retardation, X-linked, syndromic 28" EXACT DEPRECATED [DOID:0060816, OMIM:300472]
synonym: "MRXS28" EXACT ABBREVIATION [DOID:0060816]
xref: DOID:0060816 {source="MONDO:equivalentTo"}
xref: GARD:12486 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:52055/attributed", source="Orphanet:52055/ntbt", source="Orphanet:52055", source="DOID:0060816"}
xref: MEDGEN:335185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564509 {source="MONDO:equivalentTo"}
xref: OMIM:300472 {source="Orphanet:52055/e", source="MONDO:equivalentTo", source="Orphanet:52055", source="DOID:0060816"}
xref: Orphanet:52055 {source="OMIM:300472", source="MONDO:equivalentTo", source="DOID:0060816"}
xref: SCTID:722282008 {source="MONDO:equivalentTo"}
xref: UMLS:C1845446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335185"}
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:52055", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300472", source="DOID:0060816", source="OMIM:300472", source="Orphanet:52055", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete developmental defect of the eye
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5461 {source="MONDO:mim2gene_medgen"} ! IGBP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010334
name: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
def: "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." [Orphanet:369939]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17592", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:369939"}
subset: ordo_malformation_syndrome {source="Orphanet:369939"}
subset: orphanet_rare {source="Orphanet:369939"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "contiguous ABCD1/Dxs1375E deletion syndrome" RELATED [OMIM:300475]
synonym: "DDCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300475]
synonym: "deafness, dystonia, and cerebral hypomyelination" RELATED [MONDO:Lexical, OMIM:300475]
synonym: "deafness, dystonia, and cerebral hypomyelination, X-linked recessive" EXACT [OMIM:300475, OMIM:genemap2]
xref: DOID:0112123 {source="MONDO:equivalentTo"}
xref: GARD:17592 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:369939", source="Orphanet:369939/attributed", source="Orphanet:369939/ntbt"}
xref: MEDGEN:812964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564508 {source="MONDO:equivalentTo"}
xref: OMIM:300475 {source="Orphanet:369939/e", source="MONDO:equivalentTo", source="Orphanet:369939"}
xref: Orphanet:369939 {source="MONDO:equivalentTo", source="OMIM:300475"}
xref: Orphanet:369942 {source="OMIM:300475"}
xref: UMLS:C3806634 {source="MEDGEN:812964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:300475"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:369939", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16695 {source="MONDO:mim2gene_medgen"} ! BCAP31
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010335
name: X-linked cone-rod dystrophy 3
subset: gard_rare {source="GARD:10654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy X-linked 3" RELATED [GARD:0010654]
synonym: "cone-rod dystrophy, X-linked, 3" RELATED [MONDO:Lexical, OMIM:300476]
synonym: "cone-rod dystrophy, X-linked, 3, X-linked recessive" EXACT [OMIM:300476, OMIM:genemap2]
synonym: "cone-rod dystrophy, X-linked, type 3" EXACT [MONDORULE:1, OMIM:300476]
synonym: "CORDX3" EXACT ABBREVIATION [DOID:0111007, MONDO:Lexical, OMIM:300476]
synonym: "X-linked cone-rod dystrophy type 3" EXACT [DOID:0111007, MONDORULE:1]
xref: DOID:0111007 {source="MONDO:equivalentTo"}
xref: GARD:10654 {source="MONDO:GARD"}
xref: MEDGEN:336932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564507 {source="MONDO:equivalentTo"}
xref: OMIM:300476 {source="DOID:0111007", source="MONDO:equivalentTo"}
xref: UMLS:C1845407 {source="MEDGEN:336932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA1F-related retinopathy
intersection_of: MONDO:0021155 ! X-linked cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 ! CACNA1F
relationship: has_characteristic HP:0001417 {source="OMIM:300476"} ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3" xsd:anyURI {source="GARD:0010654"}

[Term]
id: MONDO:0010336
name: orofaciodigital syndrome VIII
def: "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." [Orphanet:2755]
subset: gard_rare {source="GARD:4060", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2755"}
subset: ordo_malformation_syndrome {source="Orphanet:2755"}
subset: orphanet_rare {source="Orphanet:2755"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Edwards syndrome" RELATED EXCLUDE [DOID:0060378]
synonym: "OFD syndrome 8" RELATED [GARD:0004060]
synonym: "OFD8" EXACT ABBREVIATION [DOID:0060378, MONDO:Lexical, OMIM:300484, Orphanet:2755]
synonym: "Ofds 8" RELATED [OMIM:300484]
synonym: "oral facial digital syndrome 8" RELATED [GARD:0004060]
synonym: "oral facial digital syndrome type 8" RELATED [GARD:0004060]
synonym: "oral-facial-digital syndrome type 8" EXACT [Orphanet:2755]
synonym: "oral-Facial-digital syndrome with hypoplastic Epiglottis" RELATED [OMIM:300484]
synonym: "oral-facial-digital syndrome, Edwards type" EXACT [Orphanet:2755]
synonym: "oral-Facial-digital syndrome, type 8" RELATED [OMIM:300484]
synonym: "orofaciodigital syndrome 8" RELATED [GARD:0004060]
synonym: "orofaciodigital syndrome type 8" RELATED [Orphanet:2755]
synonym: "orofaciodigital syndrome type VIII" EXACT [DOID:0060378, MONDORULE:3]
synonym: "orofaciodigital syndrome VIII" EXACT [MONDO:Lexical, OMIM:300484]
synonym: "orofaciodigital syndrome VIII, X-linked recessive" EXACT [OMIM:300484, OMIM:genemap2]
synonym: "orofaciodigital syndrome, Edwards type" EXACT [Orphanet:2755]
xref: DOID:0060378 {source="MONDO:equivalentTo"}
xref: GARD:4060 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2755", source="Orphanet:2755/attributed", source="Orphanet:2755/ntbt"}
xref: MEDGEN:208667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557820 {source="DOID:0060378", source="MONDO:equivalentTo"}
xref: OMIM:300484 {source="DOID:0060378", source="MONDO:equivalentTo", source="Orphanet:2755", source="Orphanet:2755/e"}
xref: Orphanet:2755 {source="DOID:0060378", source="OMIM:300484", source="MONDO:equivalentTo"}
xref: SCTID:722106001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796101 {source="MEDGEN:208667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015375 {source="DC-OMIM:300484", source="DOID:0060378", source="MESH:C557820", source="Orphanet:2755"} ! orofaciodigital syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010337
name: X-linked intellectual disability-cerebellar hypoplasia syndrome
def: "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." [Orphanet:137831]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9947", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137831"}
subset: orphanet_rare {source="Orphanet:137831"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive" EXACT [OMIM:300486, OMIM:genemap2]
synonym: "intellectual disability X-linked 60 (formerly)" RELATED [GARD:0009947]
synonym: "intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0009947]
synonym: "intellectual disability, X-linked 60" RELATED [OMIM:300486]
synonym: "intellectual disability, X-linked 60, formerly" RELATED [OMIM:300486]
synonym: "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0013093, OMIM:300486]
synonym: "mental retardation X-linked 60 (formerly)" RELATED DEPRECATED [GARD:0009947]
synonym: "mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance" RELATED DEPRECATED [GARD:0009947]
synonym: "mental retardation, X-linked 60" RELATED DEPRECATED [OMIM:300486]
synonym: "mental retardation, X-linked 60, formerly" RELATED DEPRECATED [OMIM:300486]
synonym: "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED DEPRECATED [OMIM:300486]
synonym: "MRX60 (formerly)" RELATED [GARD:0009947]
synonym: "Oligophrenin-1 syndrome" EXACT [Orphanet:137831]
synonym: "OPHN1 deficiency" RELATED [GARD:0013093]
synonym: "OPHN1 syndrome" EXACT [Orphanet:137831]
synonym: "OPHN1 XLMR" RELATED [GARD:0013093]
synonym: "OPHN1 XLMR, X-linked intellectual disability" RELATED [GARD:0013093]
synonym: "OPHN1- related XLID" RELATED [GARD:0013093]
synonym: "X-linked intellectual Deficit with cerebellar Hypoplasia" RELATED [GARD:0013093]
synonym: "X-linked intellectual disability-cerebellar hypoplasia syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0080311 {source="MONDO:equivalentTo"}
xref: GARD:9947 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:137831", source="Orphanet:137831/attributed", source="Orphanet:137831/ntbt"}
xref: MEDGEN:336920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537456 {source="MONDO:equivalentTo"}
xref: OMIM:300486 {source="Orphanet:137831", source="GARD:0009947", source="MONDO:equivalentTo", source="Orphanet:137831/e"}
xref: Orphanet:137831 {source="MONDO:equivalentTo", source="OMIM:300486"}
xref: SCTID:719136005 {source="MONDO:equivalentTo"}
xref: UMLS:C1845366 {source="MONDO:equivalentTo", source="MEDGEN:336920", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0020119 {source="Orphanet:137831", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:137831", source="Orphanet:137831/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8148 {source="MONDO:mim2gene_medgen"} ! OPHN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance" xsd:anyURI {source="GARD:0009947"}

[Term]
id: MONDO:0010338
name: X-linked distal spinal muscular atrophy type 3
def: "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." [Orphanet:139557]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16957", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139557"}
subset: orphanet_rare {source="Orphanet:139557"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATP7A spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ATP7A-related distal motor neuropathy" EXACT [Orphanet:139557]
synonym: "DSMAX" EXACT ABBREVIATION [Orphanet:139557]
synonym: "Dsmax" RELATED [OMIM:300489]
synonym: "SMAX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300489, Orphanet:139557]
synonym: "spinal muscular atrophy caused by mutation in ATP7A" EXACT [MONDO:design_pattern]
synonym: "spinal muscular atrophy, distal, X-linked 3" RELATED [MONDO:Lexical, OMIM:300489]
synonym: "spinal muscular atrophy, distal, X-linked 3, X-linked recessive" EXACT [OMIM:300489, OMIM:genemap2]
synonym: "spinal muscular atrophy, distal, X-linked recessive" RELATED [OMIM:300489]
synonym: "spinal muscular atrophy, distal, X-linked type 3" EXACT [MONDORULE:1, OMIM:300489]
synonym: "X-linked dHMN type 3" EXACT [Orphanet:139557]
synonym: "X-linked dHMN3" EXACT [Orphanet:139557]
synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [Orphanet:139557]
synonym: "X-linked dSMA type 3" EXACT [Orphanet:139557]
synonym: "X-linked dSMA3" EXACT [Orphanet:139557]
xref: DOID:0111196 {source="MONDO:equivalentTo"}
xref: GARD:16957 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:139557/attributed", source="Orphanet:139557/ntbt", source="Orphanet:139557"}
xref: MEDGEN:335168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564506 {source="MONDO:equivalentTo"}
xref: OMIM:300489 {source="Orphanet:139557", source="MONDO:equivalentTo", source="Orphanet:139557/e"}
xref: Orphanet:139557 {source="MONDO:equivalentTo", source="OMIM:300489"}
xref: SCTID:766764008 {source="MONDO:equivalentTo"}
xref: UMLS:C1845359 {source="MEDGEN:335168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DC-OMIM:300489", source="MESH:C564506", source="MONDO:Redundant"} ! spinal muscular atrophy
is_a: MONDO:0018894 {source="https://orcid.org/0000-0002-5002-8648"} ! distal hereditary motor neuropathy
intersection_of: MONDO:0001516 ! spinal muscular atrophy
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/869 ! ATP7A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/869 {source="MONDO:mim2gene_medgen"} ! ATP7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010339
name: epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
def: "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." [Orphanet:85294]
subset: gard_rare {source="GARD:16748", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:85294"}
subset: orphanet_rare {source="Orphanet:85294"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders" RELATED [OMIM:300491]
synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" EXACT [OMIM:300491, OMIM:genemap2]
synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders" RELATED OMO:0003005 []
synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant" EXACT OMO:0003005 []
synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT CLINGEN_LABEL [Orphanet:85294]
xref: DOID:0112122 {source="MONDO:equivalentTo"}
xref: GARD:16748 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85294/attributed", source="Orphanet:85294/ntbt", source="Orphanet:85294"}
xref: MEDGEN:1823951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564505 {source="MONDO:equivalentTo"}
xref: OMIM:300491 {source="Orphanet:85294/e", source="MONDO:equivalentTo", source="Orphanet:85294"}
xref: Orphanet:85294 {source="OMIM:300491", source="MONDO:equivalentTo"}
xref: UMLS:C5774177 {source="MONDO:equivalentTo", source="MEDGEN:1823951", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0859390 {source="OMIM:300491"} ! epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:85294", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85294", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11494 {source="MONDO:mim2gene_medgen"} ! SYN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010340
name: Asperger syndrome, X-linked, susceptibility to, 1
subset: predisposition
synonym: "Asperger syndrome susceptibility, X-linked 1, Isolated cases, X-linked" EXACT [OMIM:300494, OMIM:genemap2]
synonym: "ASPERGER syndrome, X-linked, susceptibility to, 1" RELATED [OMIM:300494]
synonym: "Asperger syndrome, X-linked, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:300494]
synonym: "Asperger syndrome, X-linked, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:300494]
synonym: "ASPGX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300494]
synonym: "susceptibility to X-linked asperger syndrome 1" RELATED [OMIM:300494]
xref: OMIM:300425 {source="MONDO:includedEntryInOMIM"}
xref: OMIM:300494 {source="MONDO:equivalentObsolete"}
xref: Orphanet:1162 {source="OMIM:300494"}
is_a: MONDO:0020573 {source="OMIM:300494"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14289 ! NLGN3
intersection_of: predisposes_towards MONDO:0005259 ! Asperger syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14289 {source="MONDO:mim2gene_medgen"} ! NLGN3
relationship: predisposes_towards MONDO:0005259 ! Asperger syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010341
name: autism, susceptibility to, X-linked 2
def: "A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations)." [MESH:D038901]
subset: predisposition
synonym: "autism susceptibility, X-linked 2, isolated cases, X-linked" EXACT [OMIM:300495, OMIM:genemap2]
synonym: "autism, susceptibility to, X-linked 2" EXACT [MONDO:Lexical, OMIM:300495]
synonym: "autism, susceptibility to, X-linked type 2" EXACT [MONDORULE:1, OMIM:300495]
synonym: "AUTSX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300495]
synonym: "intellectual developmental disorder, X-linked, Isolated cases, X-linked" EXACT [OMIM:300495, OMIM:genemap2]
synonym: "intellectual disability, X-linked" RELATED [OMIM:300495]
synonym: "mental retardation, X-linked" RELATED DEPRECATED [OMIM:300495]
synonym: "susceptibility to X-linked autism 2" RELATED [OMIM:300495]
xref: MEDGEN:336964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D038901 {source="MONDO:equivalentTo"}
xref: OMIM:300495 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:300495"}
xref: UMLS:C1845539 {source="MONDO:equivalentTo", source="MEDGEN:336964", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 {source="OMIM:300495"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14287 ! NLGN4X
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14287 {source="MONDO:mim2gene_medgen"} ! NLGN4X
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010342
name: autism, susceptibility to, X-linked 3
subset: predisposition
synonym: "autism susceptibility, X-linked 3" EXACT [OMIM:300496, OMIM:genemap2]
synonym: "autism, susceptibility to, X-linked 3" EXACT [MONDO:Lexical, OMIM:300496]
synonym: "autism, susceptibility to, X-linked type 3" EXACT [MONDORULE:1, OMIM:300496]
synonym: "AUTSX3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300496]
synonym: "susceptibility to X-linked autism 3" RELATED [OMIM:300496]
xref: MEDGEN:335161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300496 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:300496"}
xref: UMLS:C1845336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335161"}
is_a: MONDO:0020836 {source="OMIM:300496"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 ! MECP2
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010343
name: Asperger syndrome, X-linked, susceptibility to, 2
subset: predisposition
synonym: "Asperger syndrome susceptibility, X-linked 2" EXACT [OMIM:300497, OMIM:genemap2]
synonym: "ASPERGER syndrome, X-linked, susceptibility to, 2" RELATED [OMIM:300497]
synonym: "Asperger syndrome, X-linked, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:300497]
synonym: "Asperger syndrome, X-linked, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:300497]
synonym: "ASPGX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300497]
synonym: "susceptibility to X-linked asperger syndrome 2" RELATED [OMIM:300497]
xref: OMIM:300495 {source="MONDO:includedEntryInOMIM"}
xref: OMIM:300497 {source="MONDO:equivalentObsolete"}
xref: Orphanet:1162 {source="OMIM:300497"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14287 ! NLGN4X
intersection_of: predisposes_towards MONDO:0005259 ! Asperger syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14287 {source="MONDO:mim2gene_medgen"} ! NLGN4X
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010344
name: intellectual disability, X-linked 45
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22679", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 45" EXACT [MONDO:Lexical, OMIM:300498]
synonym: "intellectual disability, X-linked type 45" EXACT [MONDORULE:2, OMIM:300498]
synonym: "mental retardation, X-linked 45" EXACT DEPRECATED [MONDO:Lexical, OMIM:300498, OMIM:genemap2]
synonym: "mental retardation, X-linked type 45" EXACT DEPRECATED [MONDORULE:2, OMIM:300498]
synonym: "MRX45" RELATED DEPRECATED [MONDO:Lexical, OMIM:300498]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF81" EXACT [MONDO:design_pattern]
synonym: "ZNF81 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112028 {source="MONDO:equivalentTo"}
xref: GARD:22679 {source="MONDO:GARD"}
xref: MEDGEN:375633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564503 {source="MONDO:equivalentTo"}
xref: OMIM:300498 {source="MONDO:equivalentTo"}
xref: UMLS:C1845333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375633"}
is_a: MONDO:0019181 {source="DC-OMIM:300498", source="MONDO:Redundant", source="OMIM:300498"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13156 ! ZNF81
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13156 {source="MONDO:mim2gene_medgen"} ! ZNF81
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010345
name: obsolete ocular albinism
is_obsolete: true
replaced_by: MONDO:0017304

[Term]
id: MONDO:0010346
name: obsolete MRX52
comment: OMIM merged these.
xref: OMIM:300504 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2329" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010317

[Term]
id: MONDO:0010347
name: intellectual disability, X-linked 84
subset: gard_rare {source="GARD:22680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 84" EXACT [MONDO:Lexical, OMIM:300505]
synonym: "mental retardation, X-linked 84" RELATED DEPRECATED [MONDO:Lexical, OMIM:300505]
synonym: "mental retardation, X-linked 84, X-linked recessive" EXACT [OMIM:300505, OMIM:genemap2]
synonym: "MRX84" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300505]
xref: DOID:0112030 {source="MONDO:equivalentTo"}
xref: GARD:22680 {source="MONDO:GARD"}
xref: MEDGEN:337203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564501 {source="MONDO:equivalentTo"}
xref: OMIM:300505 {source="MONDO:equivalentTo"}
xref: UMLS:C1845297 {source="MEDGEN:337203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300505", source="OMIM:300505"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010348
name: dyslexia, susceptibility to, 9
subset: predisposition
synonym: "dyslexia, susceptibility to, 9" EXACT [OMIM:300509]
synonym: "DYX9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300509]
xref: MEDGEN:375623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300509 {source="MONDO:equivalentTo"}
xref: UMLS:C1845296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375623"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005489 {source="DC-OMIM:300509", source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia
relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0002-4142-7153"} ! dyslexia

[Term]
id: MONDO:0010349
name: ovarian dysgenesis 2
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18040", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BMP15 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ODG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300510]
synonym: "ovarian dysgenesis 2" EXACT [MONDO:Lexical, OMIM:300510]
synonym: "ovarian dysgenesis type 2" EXACT [MONDORULE:1, OMIM:300510]
synonym: "ovarian dysgenesis, hypergonadotropic, X-linked" RELATED [OMIM:300510]
synonym: "ovarian failure, hypergonadotropic, due to ovarian dysgenesis" RELATED [OMIM:300510]
synonym: "premature ovarian failure 4" RELATED [OMIM:300510]
synonym: "primary ovarian failure caused by mutation in BMP15" EXACT [MONDO:design_pattern]
xref: DOID:0080494 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0080861 {source="MONDO:equivalentTo"}
xref: GARD:18040 {source="MONDO:GARD"}
xref: MEDGEN:336903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564499 {source="MONDO:equivalentTo"}
xref: OMIM:300510 {source="MONDO:equivalentTo"}
xref: Orphanet:243 {source="OMIM:300510"}
xref: UMLS:C1845294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336903"}
is_a: MONDO:0005387 {source="OMIM:300510"} ! primary ovarian failure
is_a: MONDO:0009299 {source="OMIM:300510", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis
intersection_of: MONDO:0005387 ! primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1068 ! BMP15
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1068 {source="MONDO:mim2gene_medgen"} ! BMP15

[Term]
id: MONDO:0010350
name: premature ovarian failure 2A
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DIAPH2 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "POF2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300511]
synonym: "premature ovarian failure 2A" EXACT [MONDO:Lexical, OMIM:300511]
synonym: "premature ovarian failure 2A, X-linked dominant" EXACT [OMIM:300511, OMIM:genemap2]
synonym: "premature ovarian failure type 2A" EXACT [MONDORULE:4, OMIM:300511]
synonym: "primary ovarian failure caused by mutation in DIAPH2" EXACT [MONDO:design_pattern]
xref: DOID:0080858 {source="MONDO:equivalentTo"}
xref: MEDGEN:336902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564498 {source="MONDO:equivalentTo"}
xref: OMIM:300511 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:300511"}
xref: UMLS:C1845293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336902"}
is_a: MONDO:0003847 {source="MESH:C564498/inferred"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:300511", source="MESH:C564498", source="OMIM:300511"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2877 ! DIAPH2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2877 {source="MONDO:mim2gene_medgen"} ! DIAPH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010351
name: Fanconi anemia complementation group B
def: "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B." [NCIT:C125703]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FA2" EXACT ABBREVIATION [DOID:0111098]
synonym: "FACB" EXACT ABBREVIATION [DOID:0111098, OMIM:300514]
synonym: "FANCB" EXACT ABBREVIATION [DOID:0111098, MONDO:Lexical, OMIM:300514]
synonym: "Fanconi anaemia complementation group type B" EXACT OMO:0003005 []
synonym: "Fanconi anemia complementation group B" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type B" EXACT [DOID:0111098, MONDORULE:1]
synonym: "Fanconi anemia, complementation group B" RELATED [MONDO:Lexical, OMIM:300514]
synonym: "Fanconi anemia, complementation group B, X-linked recessive" EXACT [OMIM:300514, OMIM:genemap2]
synonym: "Fanconi Anemia, complementation group type B" EXACT [MONDORULE:1, OMIM:300514]
synonym: "Fanconi pancytopenia type 2" EXACT [DOID:0111098]
synonym: "Fanconi pancytopenia, type 2" RELATED [OMIM:300514]
xref: DOID:0111098 {source="MONDO:equivalentTo"}
xref: GARD:15257 {source="MONDO:GARD"}
xref: MEDGEN:336901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564497 {source="MONDO:equivalentTo"}
xref: NCIT:C125703 {source="MONDO:equivalentTo"}
xref: OMIM:300514 {source="MONDO:equivalentTo", source="DOID:0111098"}
xref: Orphanet:84 {source="OMIM:300514"}
xref: UMLS:C1845292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336901"}
is_a: MONDO:0019391 {source="DC-OMIM:300514", source="DOID:0111098", source="MESH:C564497", source="NCIT:C125703", source="OMIM:300514"} ! Fanconi anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3583 {source="MONDO:mim2gene_medgen"} ! FANCB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010352
name: intellectual disability, X-linked 82
subset: gard_rare {source="GARD:22681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 82" EXACT [MONDO:Lexical, OMIM:300518]
synonym: "mental retardation, X-linked 82" RELATED DEPRECATED [MONDO:Lexical, OMIM:300518]
synonym: "mental retardation, X-linked 82, X-linked recessive" EXACT [OMIM:300518, OMIM:genemap2]
synonym: "MRX82" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300518]
xref: DOID:0112052 {source="MONDO:equivalentTo"}
xref: GARD:22681 {source="MONDO:GARD"}
xref: MEDGEN:337201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564496 {source="MONDO:equivalentTo"}
xref: OMIM:300518 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300518"}
xref: UMLS:C1845286 {source="MEDGEN:337201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300518", source="OMIM:300518"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010353
name: deafness-intellectual disability, Martin-Probst type syndrome
def: "A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome." [Orphanet:85321]
subset: gard_rare {source="GARD:16750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85321"}
subset: ordo_malformation_syndrome {source="Orphanet:85321"}
subset: orphanet_rare {source="Orphanet:85321"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness-intellectual disability syndrome, Martin-Probst type" RELATED [Orphanet:85321]
synonym: "intellectual disability, X-linked, syndromic, MARTIN-Probst type" RELATED [MONDO:Lexical, OMIM:300519]
synonym: "intellectual disability, X-linked, syndromic, Martin-Probst type" EXACT [DOID:0060830]
synonym: "Martin-Probst deafness-intellectual disability syndrome" RELATED [OMIM:300519]
synonym: "Martin-Probst deafness-mental retardation syndrome" RELATED DEPRECATED [OMIM:300519]
synonym: "Martin-Probst syndrome" EXACT [DOID:0060830, Orphanet:85321]
synonym: "martin-probst syndrome, X-linked recessive" EXACT [OMIM:300519, OMIM:genemap2]
synonym: "mental retardation, X-linked, syndromic, MARTIN-Probst type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300519]
synonym: "mental retardation, X-linked, syndromic, Martin-Probst type" EXACT DEPRECATED [DOID:0060830]
synonym: "MRXSMP" RELATED DEPRECATED [MONDO:Lexical, OMIM:300519]
synonym: "X-linked deafness-intellectual disability syndrome syndrome" EXACT [Orphanet:85321]
xref: DOID:0060830 {source="MONDO:equivalentTo"}
xref: GARD:16750 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85321", source="Orphanet:85321/attributed", source="Orphanet:85321/ntbt", source="DOID:0060830"}
xref: MEDGEN:375620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564495 {source="MONDO:equivalentTo"}
xref: OMIM:300519 {source="Orphanet:85321", source="MONDO:equivalentTo", source="Orphanet:85321/e", source="DOID:0060830"}
xref: Orphanet:85321 {source="OMIM:300519", source="MONDO:equivalentTo", source="DOID:0060830"}
xref: SCTID:721087008 {source="MONDO:equivalentTo"}
xref: UMLS:C1845285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375620"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85321", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300519", source="DOID:0060830", source="OMIM:300519", source="Orphanet:85321", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010354
name: Allan-Herndon-Dudley syndrome
def: "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." [Orphanet:59]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1415"}
subset: ordo_disorder {source="Orphanet:59"}
subset: orphanet_rare {source="Orphanet:59"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AHDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300523, Orphanet:59]
synonym: "ALLAN-Herndon syndrome" EXACT [DOID:0050631]
synonym: "Allan-Herndon syndrome" RELATED [OMIM:300523]
synonym: "ALLAN-Herndon-DUDLEY syndrome" RELATED [OMIM:300523]
synonym: "Allan-Herndon-Dudley syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300523]
synonym: "intellectual disability and muscular atrophy" RELATED [GARD:0005617, OMIM:300523]
synonym: "intellectual disability, X-linked, with hypotonia" RELATED [OMIM:300523]
synonym: "MCT8 deficiency" EXACT [Orphanet:59]
synonym: "MCT8-specific thyroid hormone cell Membrane transporter deficiency" EXACT [NCIT:C118843]
synonym: "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency" EXACT [NORD:1415]
synonym: "mental retardation and muscular atrophy" RELATED DEPRECATED [OMIM:300523]
synonym: "mental retardation, X-linked, with hypotonia" RELATED DEPRECATED [OMIM:300523]
synonym: "monocarboxylate transporter 8 deficiency" EXACT [OMIM:300523, Orphanet:59]
synonym: "monocarboxylate transporter-8 deficiency" RELATED [GARD:0005617]
synonym: "T3 resisitence" RELATED [GARD:0005617]
synonym: "T3 resistance" RELATED [OMIM:300523]
synonym: "triiodothyronine resistance" RELATED [GARD:0005617, OMIM:300523]
synonym: "X-linked intellectual disability with hypotonia" RELATED [GARD:0005617]
synonym: "X-linked intellectual disability-hypotonia syndrome" EXACT [Orphanet:59]
xref: DOID:0050631 {source="MONDO:equivalentTo"}
xref: GARD:5617 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:59/attributed", source="Orphanet:59/ntbt"}
xref: ICD10CM:G31.8 {source="Orphanet:59"}
xref: MEDGEN:208645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537047 {source="MONDO:equivalentTo", source="Orphanet:59", source="Orphanet:59/e"}
xref: NANDO:1200580 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201292 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118843 {source="MONDO:equivalentTo"}
xref: NORD:1415 {source="MONDO:NORD"}
xref: OMIM:300523 {source="DOID:0050631", source="MONDO:equivalentTo", source="Orphanet:59", source="Orphanet:59/e"}
xref: Orphanet:280270 {source="OMIM:300523"}
xref: Orphanet:59 {source="MONDO:equivalentTo", source="OMIM:300523"}
xref: SCTID:702327009 {source="MONDO:equivalentTo"}
xref: UMLS:C0795889 {source="MEDGEN:208645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118843"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0016412 {source="Orphanet:59", source="https://orcid.org/0000-0001-5208-3432"} ! peripheral hypothyroidism
relationship: excluded_subClassOf MONDO:0017226 {source="Orphanet:59", source="https://orcid.org/0000-0001-5208-3432"} ! Pelizaeus-Merzbacher-like disease
relationship: excluded_subClassOf MONDO:0017916 {source="Orphanet:59", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pure or complex X-linked spastic paraplegia
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:59", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10923 {source="MONDO:mim2gene_medgen"} ! SLC16A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome" xsd:anyURI {source="GARD:0005617"}

[Term]
id: MONDO:0010355
name: syndromic X-linked intellectual disability Claes-Jensen type
subset: gard_rare {source="GARD:16744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85279"}
subset: ordo_malformation_syndrome {source="Orphanet:85279"}
subset: orphanet_rare {source="Orphanet:85279"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive" EXACT [OMIM:300534, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic, Claes-Jensen type" EXACT [DOID:0060809, MONDO:Lexical, OMIM:300534]
synonym: "intellectual disability, X-linked, syndromic, JARID1C-related" RELATED [OMIM:300534]
synonym: "mental retardation, X-linked, syndromic, Claes-Jensen type" EXACT DEPRECATED [DOID:0060809, MONDO:Lexical, OMIM:300534]
synonym: "mental retardation, X-linked, syndromic, JARID1C-related" RELATED DEPRECATED [OMIM:300534]
synonym: "MRXSCJ" EXACT ABBREVIATION [DOID:0060809, MONDO:Lexical, OMIM:300534]
synonym: "MRXSJ" EXACT ABBREVIATION [DOID:0060809]
synonym: "syndromic X-linked intellectual disability Claes-Jensen type" EXACT CLINGEN_LABEL []
synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EXACT [DOID:0060809]
synonym: "syndromic X-linked intellectual disability JARID1C-related" EXACT [DOID:0060809]
synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT DEPRECATED [DOID:0060809]
xref: DOID:0060809 {source="MONDO:equivalentTo"}
xref: GARD:16744 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85279", source="DOID:0060809", source="Orphanet:85279/attributed", source="Orphanet:85279/ntbt"}
xref: MEDGEN:335139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564494 {source="MONDO:equivalentTo"}
xref: OMIM:300534 {source="Orphanet:85279", source="DOID:0060809", source="MONDO:equivalentTo", source="Orphanet:85279/e"}
xref: Orphanet:85279 {source="DOID:0060809", source="MONDO:equivalentTo", source="OMIM:300534"}
xref: SCTID:719161008 {source="MONDO:equivalentTo"}
xref: UMLS:C1845243 {source="MEDGEN:335139", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85279"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300534", source="DOID:0060809", source="OMIM:300534", source="Orphanet:85279", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:85279", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11114 {source="MONDO:mim2gene_medgen"} ! KDM5C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010356
name: nephrogenic syndrome of inappropriate antidiuresis
def: "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." [Orphanet:93606]
subset: gard_rare {source="GARD:10306", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93606"}
subset: orphanet_rare {source="Orphanet:93606"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nephrogenic syndrome of inappropriate antidiuresis" EXACT [MONDO:Lexical, OMIM:300539]
synonym: "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" EXACT [OMIM:300539, OMIM:genemap2]
synonym: "NSIAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300539, Orphanet:93606]
xref: DOID:0112121 {source="MONDO:equivalentTo"}
xref: GARD:10306 {source="MONDO:GARD"}
xref: ICD10CM:E22.2 {source="Orphanet:93606/attributed", source="Orphanet:93606/ntbt", source="Orphanet:93606"}
xref: icd11.foundation:808905140 {source="MONDO:equivalentTo", source="Orphanet:93606"}
xref: MEDGEN:336877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564491 {source="MONDO:equivalentTo"}
xref: OMIM:300539 {source="Orphanet:93606/e", source="MONDO:equivalentTo", source="Orphanet:93606"}
xref: Orphanet:93606 {source="MONDO:equivalentTo", source="OMIM:300539"}
xref: SCTID:723440000 {source="MONDO:equivalentTo"}
xref: UMLS:C1845202 {source="MEDGEN:336877", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:93606"} ! inherited renal tubular disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/897 {source="MONDO:mim2gene_medgen"} ! AVPR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010357
name: obsolete MRX78
comment: OMIM merged these
xref: OMIM:300551 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1691" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010656

[Term]
id: MONDO:0010358
name: hypophosphatemic rickets, X-linked recessive
def: "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations
subset: gard_rare {source="GARD:15011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CLCN5 X-linked hypophosphatemic rickets" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "hypophosphatemic rickets, X-linked recessive" EXACT [OMIM:300554]
synonym: "X-linked hypophosphatemic rickets caused by mutation in CLCN5" EXACT []
xref: DOID:0080353 {source="MONDO:equivalentTo"}
xref: GARD:15011 {source="MONDO:GARD"}
xref: MEDGEN:335115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300554 {source="DOID:0080353", source="MONDO:equivalentTo"}
xref: Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:300554"}
xref: Orphanet:93622 {source="MONDO:relatedTo", source="OMIM:300554"}
xref: UMLS:C1845168 {source="MEDGEN:335115", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000044 {source="MONDO:0010358/inferred", source="MONDO:Redundant", source="OMIM:300554"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0005520 {source="DOID:0080353", source="MONDO:indirect"} ! rickets
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets
intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 ! CLCN5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010359
name: Dent disease type 2
def: "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features." [Orphanet:93623]
subset: gard_rare {source="GARD:10645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93623"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DENT disease 2" RELATED [OMIM:300555]
synonym: "dent disease 2, X-linked recessive" EXACT [OMIM:300555, OMIM:genemap2]
synonym: "Dent disease caused by mutation in OCRL" EXACT [MONDO:design_pattern]
synonym: "Dent disease type 2" EXACT [MONDORULE:1, OMIM:300555]
synonym: "nephrolithiasis type 2" EXACT [Orphanet:93623]
synonym: "OCRL Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081454 {source="MONDO:equivalentTo"}
xref: GARD:10645 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:93623", source="Orphanet:93623/attributed", source="Orphanet:93623/ntbt"}
xref: MEDGEN:336867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564487 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:300555 {source="MONDO:equivalentTo", source="Orphanet:93623", source="Orphanet:93623/e"}
xref: Orphanet:1652 {source="OMIM:300555"}
xref: Orphanet:93623 {source="MONDO:equivalentTo", source="OMIM:300555"}
xref: SCTID:717790004 {source="MONDO:equivalentTo"}
xref: UMLS:C1845167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336867"}
is_a: MONDO:0015612 {source="DC-OMIM:300555", source="MONDO:Redundant", source="OMIM:300555", source="Orphanet:93623"} ! Dent disease
intersection_of: MONDO:0015612 ! Dent disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8108 ! OCRL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8108 {source="MONDO:mim2gene_medgen"} ! OCRL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010360
name: parkinson disease 12
subset: gard_rare {source="GARD:18604", source="MONDO:GARD"}
subset: rare
synonym: "PARK12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300557]
synonym: "Parkinson disease 12" RELATED [MONDO:Lexical, OMIM:300557]
synonym: "Parkinson disease, X-linked" RELATED [OMIM:300557]
xref: GARD:18604 {source="MONDO:GARD"}
xref: MEDGEN:337173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564486 {source="MONDO:equivalentTo"}
xref: OMIM:300557 {source="MONDO:equivalentTo"}
xref: Orphanet:2828 {source="OMIM:300557"}
xref: UMLS:C1845165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337173"}
is_a: MONDO:0005180 {source="MESH:C564486", source="MONDO:Redundant", source="OMIM:300557"} ! Parkinson disease
is_a: MONDO:0017279 {source="Orphanet:2828/btnt"} ! young-onset Parkinson disease

[Term]
id: MONDO:0010361
name: intellectual disability, X-linked 30
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 30, X-linked recessive" EXACT [OMIM:300558, OMIM:genemap2]
synonym: "intellectual disability, X-linked 30" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300558]
synonym: "intellectual disability, X-linked 47" RELATED [OMIM:300558]
synonym: "intellectual disability, X-linked type 30" EXACT [MONDORULE:2, OMIM:300558]
synonym: "mental retardation, X-linked 30" RELATED DEPRECATED [MONDO:Lexical, OMIM:300558]
synonym: "mental retardation, X-linked 47" RELATED DEPRECATED [OMIM:300558]
synonym: "mental retardation, X-linked type 30" EXACT DEPRECATED [MONDORULE:2, OMIM:300558]
synonym: "MRX30" RELATED DEPRECATED [MONDO:Lexical, OMIM:300558]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in PAK3" EXACT [MONDO:design_pattern]
synonym: "PAK3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112051 {source="MONDO:equivalentTo"}
xref: GARD:22682 {source="MONDO:GARD"}
xref: MEDGEN:163235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300558 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300558"}
xref: UMLS:C0796237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163235"}
is_a: MONDO:0019181 {source="DC-OMIM:300558", source="MONDO:Redundant", source="OMIM:300558"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8592 ! PAK3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8592 {source="MONDO:mim2gene_medgen"} ! PAK3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010362
name: glycogen storage disease IXd
def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness." [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
subset: gard_rare {source="GARD:3858", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:715"}
subset: orphanet_rare {source="Orphanet:715"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease caused by mutation in PHKA1" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogen storage disease type 9D" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715]
synonym: "glycogen storage disease type 9E" RELATED EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "glycogen storage disease type IXd" EXACT [DOID:0111040, MONDORULE:5, Orphanet:715]
synonym: "glycogen storage disease type IXe" RELATED EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "glycogen storage disease, type IXd" RELATED [MONDO:Lexical, OMIM:300559]
synonym: "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, Orphanet:715]
synonym: "glycogenosis type 9D" EXACT [DOID:0111040, Orphanet:715]
synonym: "glycogenosis type 9E" RELATED EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "glycogenosis type IXd" EXACT [DOID:0111040, Orphanet:715]
synonym: "glycogenosis type IXe" RELATED EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "GSD due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, Orphanet:715]
synonym: "GSD IXd" EXACT [DOID:0111040]
synonym: "GSD type 9D" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715]
synonym: "GSD type 9E" RELATED EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "GSD type IXd" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715]
synonym: "GSD type IXe" RELATED EXCLUDE [DOID:0111040, Orphanet:715]
synonym: "GSD Vb" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Nomenclature]
synonym: "GSD9D" EXACT ABBREVIATION [DOID:0111040, MONDO:Lexical, OMIM:300559]
synonym: "muscle glycogenosis, X-linked" RELATED [OMIM:300559]
synonym: "muscle glycogenosis, X-linked recessive" EXACT [OMIM:300559, OMIM:genemap2]
synonym: "muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, OMIM:300559]
synonym: "muscular phosphorylase kinase deficiency" RELATED [GARD:0003858]
synonym: "PHKA1 glycogen storage disease" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHKA1-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "X-linked muscke glycogenosis" RELATED EXCLUDE [DOID:0111040]
xref: DOID:0111040 {source="MONDO:equivalentTo"}
xref: GARD:3858 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:715", source="DOID:0111040", source="Orphanet:715/attributed", source="Orphanet:715/ntbt"}
xref: MEDGEN:335112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564485 {source="MONDO:equivalentTo"}
xref: NANDO:1200830 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201167 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:300559 {source="MONDO:equivalentTo", source="Orphanet:715", source="DOID:0111040", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:715/e"}
xref: Orphanet:715 {source="MONDO:equivalentTo", source="DOID:0111040", source="GARD:0003858", source="OMIM:300559"}
xref: UMLS:C1845151 {source="MEDGEN:335112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8925 {source="MONDO:mim2gene_medgen"} ! PHKA1
relationship: disease_disrupts GO:0004689 ! phosphorylase kinase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8925 {source="MONDO:mim2gene_medgen", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! PHKA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency" xsd:anyURI {source="GARD:0003858"}

[Term]
id: MONDO:0010363
name: intellectual disability, X-linked 91
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 91" EXACT [MONDO:Lexical, OMIM:300577]
synonym: "intellectual disability, X-linked type 91" EXACT [MONDORULE:2, OMIM:300577]
synonym: "mental retardation, X-linked 91" RELATED DEPRECATED [MONDO:Lexical, OMIM:300577]
synonym: "mental retardation, X-linked 91, X-linked dominant" EXACT [OMIM:300577, OMIM:genemap2]
synonym: "mental retardation, X-linked type 91" EXACT DEPRECATED [MONDORULE:2, OMIM:300577]
synonym: "MRX91" RELATED DEPRECATED [MONDO:Lexical, OMIM:300577]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15" EXACT [MONDO:design_pattern]
synonym: "ZDHHC15 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112043 {source="MONDO:equivalentTo"}
xref: MEDGEN:375592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564482 {source="MONDO:equivalentTo"}
xref: OMIM:300577 {source="MONDO:equivalentTo"}
xref: UMLS:C1845142 {source="MEDGEN:375592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300577", source="MONDO:Redundant", source="OMIM:300577"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20342 ! ZDHHC15
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20342 {source="MONDO:mim2gene_medgen"} ! ZDHHC15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010364
name: X-linked intellectual disability-retinitis pigmentosa syndrome
def: "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." [Orphanet:85332]
subset: gard_rare {source="GARD:8360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85332"}
subset: orphanet_rare {source="Orphanet:85332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aldred syndrome" EXACT [Orphanet:85332]
synonym: "chromosome Xp11.3 deletion syndrome" RELATED [OMIM:300578]
synonym: "chromosome xp11.3 deletion syndrome, X-linked recessive" EXACT [OMIM:300578, OMIM:genemap2]
synonym: "intellectual disability, X-linked, with retinitis pigmentosa" RELATED [OMIM:300578]
synonym: "mental retardation, X-linked, with retinitis pigmentosa" RELATED DEPRECATED [OMIM:300578]
synonym: "nonspecific intellectual disability associated with retinitis pigmentosa" RELATED [GARD:0008360]
synonym: "nonspecific mental retardation associated with retinitis pigmentosa" RELATED DEPRECATED [GARD:0008360]
synonym: "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" EXACT [Orphanet:85332]
synonym: "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3" EXACT [Orphanet:85332]
synonym: "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" EXACT [Orphanet:85332]
synonym: "X-linked mental handicap-retinitis pigmentosa syndrome" RELATED [GARD:0008360]
xref: GARD:8360 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:85332", source="MONDO:relatedTo", source="Orphanet:85332/attributed", source="Orphanet:85332/ntbt"}
xref: MEDGEN:336862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300578 {source="Orphanet:85332", source="MONDO:equivalentTo", source="Orphanet:85332/e"}
xref: Orphanet:85332 {source="MONDO:equivalentTo", source="OMIM:300578"}
xref: SCTID:719808002 {source="MONDO:equivalentTo"}
xref: UMLS:C1845136 {source="MEDGEN:336862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:300578"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0017004 {source="Orphanet:85332"} ! partial monosomy of the short arm of chromosome X
is_a: MONDO:0020119 {source="Orphanet:85332", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: disease_arises_from_structure CHR:9606-chrXp11.3 {source="https://orcid.org/0000-0002-4142-7153"} ! Xp11.3 (Human)
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010365
name: myopathy, congenital, with fiber-type disproportion, X-linked
subset: gard_rare {source="GARD:15258", source="MONDO:GARD"}
subset: rare
synonym: "CFTDX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300580]
synonym: "myopathy, congenital, with fiber-type disproportion, X-linked" EXACT [MONDO:Lexical, OMIM:300580]
synonym: "myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant" EXACT [OMIM:300580, OMIM:genemap2]
xref: DOID:0111226 {source="MONDO:equivalentTo"}
xref: GARD:15258 {source="MONDO:GARD"}
xref: MEDGEN:440714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567594 {source="MONDO:equivalentTo"}
xref: OMIM:300580 {source="MONDO:equivalentTo"}
xref: Orphanet:2020 {source="OMIM:300580"}
xref: UMLS:C2749128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440714"}
is_a: MONDO:0009711 {source="Orphanet:2020/btnt"} ! congenital fiber-type disproportion myopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010366
name: FG syndrome 5
synonym: "FG syndrome 5" EXACT [MONDO:Lexical, OMIM:300581]
synonym: "FGS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300581]
xref: MEDGEN:336854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564480 {source="MONDO:equivalentTo"}
xref: OMIM:300581 {source="MONDO:equivalentTo"}
xref: Orphanet:323 {source="OMIM:300581"}
xref: UMLS:C1845119 {source="MONDO:equivalentTo", source="MEDGEN:336854", source="MONDO:MEDGEN"}
is_a: MONDO:0002010 {source="DC-OMIM:300581"} ! FG syndrome

[Term]
id: MONDO:0010367
name: SHOX-related short stature
def: "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." [Orphanet:314795]
subset: gard_rare {source="GARD:17434", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314795"}
subset: orphanet_rare {source="Orphanet:314795"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ISS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300582]
synonym: "short stature, idiopathic familial" EXACT [OMIM:300582, OMIM:genemap2]
synonym: "short stature, idiopathic, X-linked" RELATED [MONDO:Lexical, OMIM:300582]
xref: DOID:0112120 {source="MONDO:equivalentTo"}
xref: GARD:17434 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:314795/attributed", source="Orphanet:314795/ntbt", source="Orphanet:314795"}
xref: MEDGEN:375584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564479 {source="MONDO:equivalentTo"}
xref: OMIM:300582 {source="Orphanet:314795/e", source="MONDO:equivalentTo", source="Orphanet:314795"}
xref: Orphanet:314795 {source="OMIM:300582", source="MONDO:equivalentTo"}
xref: SCTID:763868006 {source="MONDO:equivalentTo"}
xref: UMLS:C1845118 {source="MEDGEN:375584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:27994182", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010368
name: obsolete immunodeficiency without anhidrotic ectodermal dysplasia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5701" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010386

[Term]
id: MONDO:0010369
name: nystagmus 5, congenital, X-linked
synonym: "NYS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300589]
synonym: "NYSTAGMUS 5, congenital, X-linked" RELATED [MONDO:Lexical, OMIM:300589]
synonym: "nystagmus 5, congenital, X-linked, X-linked dominant" EXACT [OMIM:300589, OMIM:genemap2]
xref: DOID:0111796 {source="MONDO:equivalentTo"}
xref: MEDGEN:375583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300589 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:300589"}
xref: UMLS:C1845116 {source="MEDGEN:375583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005712 {source="DC-OMIM:300589", source="OMIM:300589"} ! congenital nystagmus
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010370
name: Cornelia de Lange syndrome 2
def: "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation." [NCIT:C75485]
subset: gard_rare {source="GARD:15259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cdls, X-linked" RELATED [OMIM:300590]
synonym: "CDLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300590]
synonym: "Cornelia DE Lange syndrome 2" RELATED [OMIM:300590]
synonym: "Cornelia de Lange syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300590]
synonym: "Cornelia de Lange syndrome 2, X-linked dominant" EXACT [OMIM:300590, OMIM:genemap2]
synonym: "Cornelia de Lange syndrome caused by mutation in SMC1A" EXACT [MONDO:design_pattern]
synonym: "Cornelia De Lange syndrome type 2" EXACT [MONDORULE:1, OMIM:300590]
synonym: "Cornelia De Lange syndrome, X-linked" RELATED [OMIM:300590]
synonym: "SMC1A Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked Cornelia De Lange syndrome" EXACT [NCIT:C75485]
xref: DOID:0080506 {source="MONDO:equivalentTo"}
xref: GARD:15259 {source="MONDO:GARD"}
xref: MEDGEN:315658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75485 {source="MONDO:equivalentTo"}
xref: OMIM:300590 {source="MONDO:equivalentTo"}
xref: Orphanet:199 {source="OMIM:300590"}
xref: UMLS:C1802395 {source="MEDGEN:315658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016033 {source="DC-OMIM:300590", source="MONDO:Redundant", source="NCIT:C75485", source="OMIM:300590"} ! Cornelia de Lange syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11111 ! SMC1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11111 {source="MONDO:mim2gene_medgen"} ! SMC1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010371
name: Aland island eye disease
def: "An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." [Orphanet:178333]
subset: gard_rare {source="GARD:10574", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178333"}
subset: orphanet_rare {source="Orphanet:178333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300600, Orphanet:178333]
synonym: "ALAND ISLAND eye disease" RELATED [OMIM:300600]
synonym: "Aland island eye disease" EXACT [MONDO:Lexical, OMIM:300600]
synonym: "Forsius Eriksson type ocular albinism" RELATED [GARD:0010574]
synonym: "Forsius-Eriksson syndrome" EXACT [DOID:0050630, Orphanet:178333]
synonym: "FORSIUS-Eriksson type ocular albinism" EXACT [DOID:0050630]
synonym: "Forsius-Eriksson type ocular albinism" EXACT [OMIM:300600, Orphanet:178333]
synonym: "Åland Islands eye disease" RELATED [Orphanet:178333]
xref: DOID:0050630 {source="MONDO:equivalentTo"}
xref: GARD:10574 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:178333", source="Orphanet:178333/attributed", source="Orphanet:178333/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:120643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562664 {source="MONDO:equivalentTo"}
xref: OMIM:300600 {source="DOID:0050630", source="Orphanet:178333", source="MONDO:equivalentTo", source="Orphanet:178333/e"}
xref: Orphanet:178333 {source="MONDO:equivalentTo", source="OMIM:300600"}
xref: SCTID:266455006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120643"}
is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder
is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA1F-related retinopathy
relationship: excluded_subClassOf MONDO:0019118 {source="Orphanet:178333", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy
relationship: has_characteristic HP:0001417 {source="Orphanet:178333", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0010372
name: obsolete Clark-Baraitser syndrome
comment: These were merged in OMIM.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2457" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0030914

[Term]
id: MONDO:0010373
name: premature ovarian failure 2B
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF1B primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "POF2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300604]
synonym: "premature ovarian failure 2B" EXACT [MONDO:Lexical, OMIM:300604]
synonym: "premature ovarian failure 2B, X-linked recessive" EXACT [OMIM:300604, OMIM:genemap2]
synonym: "premature ovarian failure type 2B" EXACT [MONDORULE:4, OMIM:300604]
synonym: "primary ovarian failure caused by mutation in POF1B" EXACT [MONDO:design_pattern]
xref: DOID:0080859 {source="MONDO:equivalentTo"}
xref: MEDGEN:337159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564476 {source="MONDO:equivalentTo"}
xref: OMIM:300604 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:300604"}
xref: UMLS:C1845105 {source="MEDGEN:337159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:300604", source="MESH:C564476", source="OMIM:300604"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13711 ! POF1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13711 {source="MONDO:mim2gene_medgen"} ! POF1B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010374
name: retinitis pigmentosa 34
def: "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28." [DOID:0110417, PMID:16740911]
subset: gard_rare {source="GARD:10390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 34" EXACT [MONDO:Lexical, OMIM:300605]
synonym: "retinitis pigmentosa type 34" EXACT [DOID:0110417, MONDORULE:2]
synonym: "RP 34" RELATED [GARD:0010390]
synonym: "RP34" EXACT ABBREVIATION [DOID:0110417, MONDO:Lexical, OMIM:300605]
xref: DOID:0110417 {source="MONDO:equivalentTo"}
xref: GARD:10390 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110417"}
xref: MEDGEN:375582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564475 {source="MONDO:equivalentTo"}
xref: OMIM:300605 {source="DOID:0110417", source="MONDO:equivalentTo"}
xref: UMLS:C1845104 {source="MEDGEN:375582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:300605", source="DOID:0110417", source="MESH:C564475", source="OMIM:300605"} ! retinitis pigmentosa
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10390/retinitis-pigmentosa-34" xsd:anyURI {source="GARD:0010390"}

[Term]
id: MONDO:0010375
name: developmental and epileptic encephalopathy, 8
subset: gard_rare {source="GARD:17010", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163985"}
subset: orphanet_rare {source="Orphanet:163985"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE8" EXACT ABBREVIATION [OMIM:300607]
synonym: "developmental and epileptic encephalopathy 8" EXACT [OMIM:300607, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy 8" EXACT [DOID:0080215]
synonym: "EIEE8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300607]
synonym: "epileptic encephalopathy, early infantile, 8" EXACT [MONDO:Lexical, OMIM:300607]
synonym: "epileptic encephalopathy, early infantile, type 8" EXACT [MONDORULE:1, OMIM:300607]
synonym: "hyperekplexia and epilepsy" RELATED [OMIM:300607]
synonym: "hyperekplexia-epilepsy syndrome" EXACT [Orphanet:163985]
xref: DOID:0080215 {source="MONDO:equivalentTo"}
xref: GARD:17010 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="Orphanet:163985/attributed", source="Orphanet:163985/ntbt", source="Orphanet:163985"}
xref: MEDGEN:375581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564474 {source="MONDO:equivalentTo"}
xref: OMIM:300607 {source="Orphanet:163985/e", source="MONDO:equivalentTo", source="DOID:0080215", source="Orphanet:163985"}
xref: Orphanet:163985 {source="OMIM:300607", source="MONDO:equivalentTo"}
xref: UMLS:C1845102 {source="MEDGEN:375581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="MONDO:Redundant", source="Orphanet:163985"} ! movement disorder
is_a: MONDO:0016160 {source="Orphanet:163985"} ! X-linked intellectual disability-epilepsy syndrome
is_a: MONDO:0017658 {source="MONDO:Redundant", source="Orphanet:163985"} ! hyperekplexia
is_a: MONDO:0100062 {source="DC-OMIM:300607", source="DOID:0080215", source="OMIM:300607"} ! developmental and epileptic encephalopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015957"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14561 {source="MONDO:mim2gene_medgen"} ! ARHGEF9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010376
name: obsolete Brooks-Wisniewski-brown syndrome
comment: Obsoleted in OMIM and GARD.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/696" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010407

[Term]
id: MONDO:0010377
name: myopia 13, X-linked
synonym: "myopia 13" EXACT [OMIM:300613, OMIM:genemap2]
synonym: "myopia 13, X-linked" EXACT [MONDO:Lexical, OMIM:300613]
synonym: "MYP13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300613]
xref: MEDGEN:335097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564473 {source="MONDO:equivalentTo"}
xref: OMIM:300613 {source="MONDO:equivalentTo"}
xref: UMLS:C1845096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335097"}
is_a: MONDO:0001384 {source="DC-OMIM:300613", source="MESH:C564473", source="OMIM:300613"} ! myopia
is_a: MONDO:0003847 {source="MESH:C564473/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010378
name: X-linked hereditary sensory and autonomic neuropathy with hearing loss
def: "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." [Orphanet:139583]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139583"}
subset: orphanet_rare {source="Orphanet:139583"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy" RELATED [OMIM:300614]
synonym: "deafness, X-linked 5" RELATED [GARD:0012731, MONDO:Lexical, OMIM:300614]
synonym: "deafness, X-linked 5, X-linked recessive" NARROW [OMIM:300614, OMIM:genemap2]
synonym: "DFNX5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300614]
synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT [Orphanet:139583]
synonym: "X-linked hereditary sensory and autonomic neuropathy with deafness" NARROW [OMIM:300614]
synonym: "X-linked hereditary sensory and autonomic neuropathy with hearing loss" EXACT CLINGEN_LABEL []
synonym: "X-linked HSAN with deafness" NARROW [Orphanet:139583]
xref: DOID:0111741 {source="MONDO:equivalentTo"}
xref: GARD:12731 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:139583", source="Orphanet:139583/attributed", source="Orphanet:139583/ntbt"}
xref: MEDGEN:930069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564472 {source="MONDO:equivalentTo"}
xref: OMIM:300614 {source="Orphanet:139583/e", source="MONDO:equivalentTo", source="Orphanet:139583"}
xref: Orphanet:139583 {source="MONDO:equivalentTo", source="OMIM:300614"}
xref: SCTID:719838008 {source="MONDO:equivalentTo"}
xref: UMLS:C4304400 {source="MEDGEN:930069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="Orphanet:139583"} ! hereditary sensory and autonomic neuropathy
is_a: MONDO:0019586 {source="DC-OMIM:300614", source="OMIM:300614"} ! X-linked nonsyndromic hearing loss
is_a: MONDO:0021944 {source="OMIM:300614"} ! auditory neuropathy
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8768 {source="MONDO:mim2gene_medgen"} ! AIFM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness" xsd:anyURI {source="GARD:0012731"}

[Term]
id: MONDO:0010379
name: Brunner syndrome
def: "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." [Orphanet:3057]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3531", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3057"}
subset: orphanet_rare {source="Orphanet:3057"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antisocial behavior, susceptibility to" RELATED [OMIM:300615]
synonym: "antisocial behavior, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap2]
synonym: "BRNRS" RELATED ABBREVIATION [OMIM:300615]
synonym: "Brunner syndrome" EXACT CLINGEN_LABEL [OMIM:300615, Orphanet:3057]
synonym: "Brunner syndrome, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap2]
synonym: "monoamine oxidase A deficiency" EXACT [DOID:0060693]
xref: DOID:0060693 {source="MONDO:equivalentTo"}
xref: GARD:3531 {source="MONDO:GARD"}
xref: ICD10CM:E70.8 {source="DOID:0060693", source="Orphanet:3057", source="Orphanet:3057/attributed", source="Orphanet:3057/ntbt"}
xref: MEDGEN:208683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563156 {source="DOID:0060693", source="MONDO:equivalentTo"}
xref: OMIM:300615 {source="DOID:0060693", source="Orphanet:3057", source="MONDO:equivalentTo", source="Orphanet:3057/e"}
xref: Orphanet:3057 {source="DOID:0060693", source="MONDO:equivalentTo", source="OMIM:300615"}
xref: SCTID:718210003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208683"}
is_a: MONDO:0004736 {source="DOID:0060693"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019219 {source="Orphanet:3057"} ! inborn disorder of neurotransmitter metabolism and transport
relationship: has_characteristic HP:0001419 ! X-linked recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6833 {source="MONDO:mim2gene_medgen"} ! MAOA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010380
name: cataract, ataxia, short stature, and intellectual disability
synonym: "Casm syndrome" RELATED [OMIM:300619]
synonym: "cataract, ataxia, short stature, and intellectual disability" EXACT [OMIM:300619]
synonym: "cataract, ataxia, short stature, and mental retardation" EXACT DEPRECATED [OMIM:300619]
synonym: "cataracts, ataxia, short stature, and intellectual disability" RELATED [GARD:0010222]
synonym: "cataracts, ataxia, short stature, and mental retardation" RELATED DEPRECATED [GARD:0010222]
xref: MEDGEN:375579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535345 {source="MONDO:equivalentTo"}
xref: OMIM:300619 {source="MONDO:equivalentTo"}
xref: UMLS:C1845094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375579"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010381
name: Tn polyagglutination syndrome
synonym: "galactosyltransferase deficiency" RELATED [OMIM:300622]
synonym: "Tn polyagglutination syndrome" EXACT [MONDO:Lexical, OMIM:300622]
synonym: "Tn polyagglutination syndrome, somatic" EXACT [OMIM:300622, OMIM:genemap2]
synonym: "TNPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300622]
xref: DOID:0080520 {source="MONDO:equivalentTo"}
xref: MEDGEN:82896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562719 {source="MONDO:equivalentTo"}
xref: OMIM:300622 {source="MONDO:equivalentTo"}
xref: UMLS:C0272137 {source="MEDGEN:82896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24338 {source="MONDO:mim2gene_medgen"} ! C1GALT1C1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010382
name: fragile X-associated tremor/ataxia syndrome
def: "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." [Orphanet:93256]
subset: gard_rare {source="GARD:16806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93256"}
subset: ordo_malformation_syndrome {source="Orphanet:93256"}
subset: orphanet_rare {source="Orphanet:93256"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fragile 10 tremor/ataxia syndrome" RELATED [OMIM:300623]
synonym: "fragile X tremor/ataxia syndrome" RELATED [MONDO:Lexical, OMIM:300623]
synonym: "Fragile X tremor/ataxia syndrome, X-linked dominant" EXACT [OMIM:300623, OMIM:genemap2]
synonym: "FXTAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300623]
synonym: "FXTAS syndrome" EXACT [DOID:0050879, Orphanet:93256]
xref: DOID:0050879 {source="MONDO:equivalentTo"}
xref: GARD:16806 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:93256/attributed", source="Orphanet:93256/ntbt", source="Orphanet:93256"}
xref: MEDGEN:333403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564105 {source="MONDO:equivalentTo"}
xref: NANDO:1200690 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200691 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126566 {source="MONDO:equivalentTo"}
xref: OMIM:300623 {source="Orphanet:93256", source="MONDO:equivalentTo", source="Orphanet:93256/e", source="DOID:0050879"}
xref: Orphanet:93256 {source="MONDO:equivalentTo", source="OMIM:300623"}
xref: SCTID:448045004 {source="MONDO:equivalentTo"}
xref: UMLS:C1839780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333403"}
is_a: MONDO:0002254 {source="NCIT:C126566"} ! syndromic disease
is_a: MONDO:0005395 {source="Orphanet:93256"} ! movement disorder
is_a: MONDO:0016612 {source="DOID:0050879", source="Orphanet:93256"} ! X-linked cerebellar ataxia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017644"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 {source="MONDO:mim2gene_medgen", source="https://www.fragilex.org.uk/"} ! FRAXA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4883" xsd:anyURI

[Term]
id: MONDO:0010383
name: fragile X syndrome
def: "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6464", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1159"}
subset: ordo_disorder {source="Orphanet:908"}
subset: ordo_malformation_syndrome {source="Orphanet:908"}
subset: orphanet_rare {source="Orphanet:908"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fra(X) syndrome" RELATED [GARD:0006464]
synonym: "fragile 10 intellectual disability syndrome" RELATED [OMIM:300624]
synonym: "fragile 10 mental retardation syndrome" RELATED DEPRECATED [OMIM:300624]
synonym: "fragile 10 premature ovarian failure" RELATED [OMIM:300624]
synonym: "fragile 10 syndrome" RELATED [OMIM:300624]
synonym: "fragile X intellectual disability syndrome" EXACT [DOID:14261, OMIM:300624]
synonym: "fragile X mental retardation syndrome" EXACT DEPRECATED [DOID:14261, OMIM:300624]
synonym: "fragile X syndrome" EXACT CLINGEN_LABEL [OMIM:300624]
synonym: "Fragile X syndrome, X-linked dominant" EXACT [OMIM:300624, OMIM:genemap2]
synonym: "FraX syndrome" EXACT [Orphanet:908]
synonym: "FRAXA syndrome" EXACT [Orphanet:908]
synonym: "FXS" EXACT ABBREVIATION [Orphanet:908]
synonym: "intellectual disability, X-linked, associated with Marxq28" RELATED [OMIM:300624]
synonym: "marker 10 syndrome" RELATED [OMIM:300624]
synonym: "marker X syndrome" EXACT [DOID:14261]
synonym: "Martin-Bell syndrome" EXACT [DOID:14261, OMIM:300624, Orphanet:908]
synonym: "mental retardation, X-linked, associated with Marxq28" RELATED DEPRECATED [OMIM:300624]
synonym: "primary ovarian insufficiency, fragile X-associated" RELATED [OMIM:300624]
synonym: "X-linked intellectual disability and macroorchidism" RELATED [OMIM:300624]
synonym: "X-linked mental retardation and macroorchidism" RELATED DEPRECATED [OMIM:300624]
xref: DOID:14261 {source="MONDO:equivalentTo"}
xref: GARD:6464 {source="MONDO:GARD"}
xref: ICD10CM:Q99.2 {source="Orphanet:908/e", source="Orphanet:908/specific", source="DOID:14261", source="Orphanet:908"}
xref: icd11.foundation:1524287677 {source="MONDO:equivalentTo", source="Orphanet:908", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:759.83 {source="DOID:14261", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10017324 {source="Orphanet:908/e", source="Orphanet:908"}
xref: MEDGEN:8912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005600 {source="Orphanet:908/e", source="DOID:14261", source="MONDO:equivalentTo", source="Orphanet:908"}
xref: NANDO:1200692 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100224 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200840 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84717 {source="DOID:14261", source="MONDO:equivalentTo"}
xref: NORD:1159 {source="MONDO:NORD"}
xref: OMIM:300624 {source="DOID:14261", source="MONDO:equivalentTo", source="Orphanet:908/ntbt", source="Orphanet:908"}
xref: Orphanet:908 {source="MONDO:equivalentTo", source="OMIM:300624"}
xref: SCTID:390007001 {source="DOID:14261"}
xref: SCTID:613003 {source="DOID:14261", source="MONDO:equivalentTo"}
xref: UMLS:C0016667 {source="MEDGEN:8912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84717"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:908", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:908", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: excluded_subClassOf MONDO:0017656 {source="Orphanet:908", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete motor stereotypies
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300624", source="Orphanet:908", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 {source="MONDO:mim2gene_medgen", source="https://www.fragilex.org.uk/"} ! FRAXA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1766" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4883" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6428" xsd:anyURI

[Term]
id: MONDO:0010384
name: hypospadias 1, X-linked
subset: gard_rare {source="GARD:18185", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypospadias 1, X-linked" EXACT [MONDO:Lexical, OMIM:300633]
synonym: "hypospadias 1, X-linked, X-linked recessive" EXACT [OMIM:300633, OMIM:genemap2]
synonym: "HYSP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300633]
xref: GARD:18185 {source="MONDO:GARD"}
xref: MEDGEN:394735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567482 {source="MONDO:equivalentTo"}
xref: OMIM:300633 {source="MONDO:equivalentTo"}
xref: Orphanet:440 {source="OMIM:300633"}
xref: UMLS:C2678098 {source="MEDGEN:394735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005345 {source="DC-OMIM:300633", source="MESH:C567482", source="OMIM:300633"} ! hypospadias
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010385
name: X-linked lymphoproliferative disease due to XIAP deficiency
def: "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2." [NCIT:C126295]
subset: gard_rare {source="GARD:10916", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:538934"}
subset: orphanet_rare {source="Orphanet:538934"}
subset: rare
synonym: "lymphoproliferative syndrome, X-linked, 2" RELATED [GARD:0010916, MONDO:Lexical, OMIM:300635]
synonym: "lymphoproliferative syndrome, X-linked, 2, X-linked recessive" EXACT [OMIM:300635, OMIM:genemap2]
synonym: "lymphoproliferative syndrome, X-linked, type 2" EXACT [MONDORULE:1, OMIM:300635]
synonym: "X-linked lymphoproliferative disease due to XIAP deficiency" EXACT CLINGEN_LABEL []
synonym: "X-linked lymphoproliferative syndrome type 2" EXACT [DOID:0060706, MONDORULE:1]
synonym: "XIAP deficiency" EXACT [DOID:0060706]
synonym: "Xiap deficiency" RELATED [OMIM:300635]
synonym: "XIAP deficiency/XLPs" EXACT [NCIT:C126295]
synonym: "XIAP-related lymphoproliferative disease, X-linked" RELATED [GARD:0010916]
synonym: "XLP2" EXACT ABBREVIATION [DOID:0060706, MONDO:Lexical, OMIM:300635]
xref: DOID:0060706 {source="MONDO:equivalentTo"}
xref: GARD:10916 {source="MONDO:GARD"}
xref: ICD10CM:D82.3 {source="DOID:0060706"}
xref: MEDGEN:336848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564469 {source="MONDO:equivalentTo"}
xref: NCIT:C126295 {source="MONDO:equivalentTo"}
xref: OMIM:300635 {source="Orphanet:538934", source="MONDO:equivalentTo", source="DOID:0060706"}
xref: Orphanet:2442 {source="OMIM:300635"}
xref: Orphanet:538934 {source="MONDO:equivalentTo"}
xref: UMLS:C1845076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336848"}
is_a: MONDO:0000001 {source="Orphanet:538934"} ! disease
is_a: MONDO:0010627 {source="MESH:C564469", source="MONDO:Redundant", source="Orphanet:2442/btnt", source="Orphanet:538934"} ! X-linked lymphoproliferative syndrome
is_a: MONDO:0016537 {source="DOID:0060706", source="MESH:C564469", source="MONDO:Redundant", source="OMIM:300635"} ! lymphoproliferative syndrome
is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C126295"} ! immunodeficiency disease
intersection_of: MONDO:0010627 ! X-linked lymphoproliferative syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/592 ! XIAP
relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:300635"} ! X-linked inheritance
relationship: has_characteristic HP:0001419 {source="Orphanet:538934"} ! X-linked recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/592 {source="MONDO:mim2gene_medgen", source="Orphanet:538934"} ! XIAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2" xsd:anyURI {source="GARD:0010916"}

[Term]
id: MONDO:0010386
name: immunodeficiency 33
def: "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12915", source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:319612"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:319612"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "atypical Mycobacteriosis, familial, X-linked 1" RELATED [OMIM:300636]
synonym: "familial X-linked 1 atypical mycobacteriosis" RELATED [GARD:0012915]
synonym: "IKBKG invasive pneumococcal disease, recurrent isolated" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IKBKG X-linked mendelian susceptibility to mycobacterial diseases" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IMD33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300636]
synonym: "immunodeficiency 33, Mycobacteriosis, X-linked" EXACT [OMIM:300636]
synonym: "immunodeficiency 33, X-linked recessive" EXACT [OMIM:300636, OMIM:genemap2]
synonym: "immunodeficiency type 33" EXACT [MONDORULE:2, OMIM:300636]
synonym: "immunodeficiency without anhidrotic ectodermal dysplasia" EXACT [MONDO:0010368, OMIM:300584]
synonym: "immunodeficiency, isolated" EXACT [OMIM:300584]
synonym: "immunodeficiency, pure" EXACT [OMIM:300584]
synonym: "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG" EXACT [MONDO:design_pattern]
synonym: "invasive pneumococcal disease, recurrent isolated, 2" EXACT [MONDO:Lexical, OMIM:300640]
synonym: "invasive pneumococcal disease, recurrent isolated, type 2" EXACT [MONDORULE:1, OMIM:300640]
synonym: "IPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300640]
synonym: "NEMO deficiency syndrome" RELATED [GARD:0012915]
synonym: "NF-kappa B essential modulator deficiency" RELATED [GARD:0012915]
synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG" EXACT [Orphanet:319612]
synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" EXACT [Orphanet:319612]
synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT [Orphanet:319612]
synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [Orphanet:319612]
synonym: "X-linked MSMD due to NEMO deficiency" EXACT [Orphanet:319612]
xref: DOID:0112003 {source="MONDO:equivalentTo"}
xref: GARD:12915 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:319612/attributed", source="Orphanet:319612/ntbt", source="Orphanet:319612"}
xref: MEDGEN:370376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536289 {source="MONDO:equivalentTo"}
xref: MESH:C564468
xref: MESH:C567070 {source="MONDO:equivalentObsolete"}
xref: OMIM:300584 {source="MONDO:equivalentObsolete"}
xref: OMIM:300636 {source="Orphanet:319612/e", source="MONDO:equivalentTo", source="Orphanet:319612"}
xref: Orphanet:319605 {source="OMIM:300636"}
xref: Orphanet:319612 {source="MONDO:equivalentTo"}
xref: UMLS:C1970879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370376"}
is_a: MONDO:0003778 {source="DC-OMIM:300584", source="MESH:C536289"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021094 {xref="OMIM:300636"} ! immunodeficiency disease
is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia
relationship: excluded_subClassOf MONDO:0017905 {source="Orphanet:319612", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked Mendelian susceptibility to mycobacterial diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="MONDO:mim2gene_medgen"} ! IKBKG
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5520" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5701" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6764" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia" xsd:anyURI {source="GARD:0009917"}

[Term]
id: MONDO:0010387
name: obsolete invasive pneumococcal disease, recurrent isolated, 2
comment: Obsolete in OMIM.
xref: OMIM:300640 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2339" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010386

[Term]
id: MONDO:0010388
name: rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
subset: gard_rare {source="GARD:18282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RESDX" RELATED DEPRECATED [MONDO:Lexical, OMIM:300643]
synonym: "rolandic epilepsy, impaired intellectual development, and speech dyspraxia" EXACT [OMIM:300643, OMIM:genemap2]
synonym: "ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked" RELATED [OMIM:300643]
synonym: "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" EXACT [MONDO:Lexical, OMIM:300643]
synonym: "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked" RELATED DEPRECATED [OMIM:300643]
synonym: "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked" EXACT DEPRECATED [MONDO:Lexical, OMIM:300643]
xref: GARD:18282 {source="MONDO:GARD"}
xref: MEDGEN:337150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564467 {source="MONDO:equivalentTo"}
xref: OMIM:300643 {source="MONDO:equivalentTo"}
xref: Orphanet:163721 {source="OMIM:300643"}
xref: UMLS:C1845070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337150"}
is_a: MONDO:0015587 {source="Orphanet:163721/btnt"} ! rolandic epilepsy-speech dyspraxia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30668 {source="MONDO:mim2gene_medgen"} ! SRPX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010389
name: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
def: "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." [MONDO:patterns/disease_series_by_gene]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:319623"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:319623"}
subset: predisposition
subset: rare
synonym: "atypical Mycobacteriosis, familial, X-linked 2" RELATED [OMIM:300645]
synonym: "CYBB X-linked mendelian susceptibility to mycobacterial diseases" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IMD34" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300645]
synonym: "immunodeficiency 34" RELATED [MONDO:Lexical, OMIM:300645]
synonym: "immunodeficiency 34, Mycobacteriosis, X-linked" RELATED [OMIM:300645]
synonym: "immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive" EXACT [OMIM:300645, OMIM:genemap2]
synonym: "immunodeficiency type 34" EXACT [MONDORULE:2, OMIM:300645]
synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB" EXACT []
synonym: "X-linked MSMD due to CYBB deficiency" EXACT [Orphanet:319623]
xref: DOID:0112000 {source="MONDO:equivalentTo"}
xref: ICD10CM:D84.8 {source="Orphanet:319623/attributed", source="Orphanet:319623/ntbt", source="Orphanet:319623"}
xref: MEDGEN:370369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567068 {source="MONDO:equivalentTo"}
xref: NANDO:2201279 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:300645 {source="Orphanet:319623/e", source="MONDO:equivalentTo", source="Orphanet:319623"}
xref: Orphanet:319605 {source="OMIM:300645"}
xref: Orphanet:319623 {source="MONDO:equivalentTo", source="OMIM:300645"}
xref: UMLS:C1970859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370369"}
is_a: MONDO:0017905 {source="Orphanet:319623", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked Mendelian susceptibility to mycobacterial diseases
intersection_of: MONDO:0017905 ! X-linked Mendelian susceptibility to mycobacterial diseases
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2578 ! CYBB
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2578 {source="MONDO:mim2gene_medgen"} ! CYBB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010390
name: ocular albinism with late-onset sensorineural deafness
def: "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome." [Orphanet:1000]
subset: gard_rare {source="GARD:592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1000"}
subset: orphanet_rare {source="Orphanet:1000"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism ocular late onset sensorineural deafness" RELATED [GARD:0000592]
synonym: "albinism, ocular, with late-onset sensorineural deafness" RELATED [MONDO:Lexical, OMIM:300650]
synonym: "deafness and ocular albinism" RELATED [OMIM:300650]
synonym: "OASD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300650]
synonym: "ocular albinism with sensorineural deafness" RELATED [OMIM:300650]
xref: GARD:592 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:1000", source="Orphanet:1000/attributed", source="Orphanet:1000/ntbt"}
xref: MEDGEN:337149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537043 {source="Orphanet:1000", source="Orphanet:1000/e"}
xref: OMIM:300650 {source="Orphanet:1000", source="MONDO:equivalentTo", source="Orphanet:1000/e"}
xref: Orphanet:1000 {source="OMIM:300650", source="MONDO:equivalentTo"}
xref: SCTID:722054007 {source="MONDO:equivalentTo"}
xref: UMLS:C1845069 {source="MEDGEN:337149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017304 {source="Orphanet:1000"} ! ocular albinism

[Term]
id: MONDO:0010391
name: angioma serpiginosum, X-linked
subset: gard_rare {source="GARD:10188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "angio serpiginosum, X-linked dominant" EXACT [OMIM:300652, OMIM:genemap2]
synonym: "angioma serpiginosum, X-linked" EXACT [OMIM:300652]
xref: GARD:10188 {source="MONDO:GARD"}
xref: MEDGEN:1648301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536366 {source="MONDO:equivalentTo"}
xref: OMIM:300652 {source="MONDO:equivalentTo"}
xref: Orphanet:95429 {source="OMIM:300652"}
xref: UMLS:C4721404 {source="MEDGEN:1648301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019803 {source="DC-OMIM:300652"} ! angioma serpiginosum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010392
name: glycogen storage disease due to phosphoglycerate kinase 1 deficiency
def: "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." [Orphanet:713]
subset: gard_rare {source="GARD:7389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1577"}
subset: ordo_disorder {source="Orphanet:713"}
subset: orphanet_rare {source="Orphanet:713"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease caused by mutation in PGK1" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT CLINGEN_LABEL []
synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713]
synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713]
synonym: "PGK deficiency" RELATED [GARD:0007389]
synonym: "Pgk1 deficiency" RELATED [OMIM:300653]
synonym: "PGK1 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHOSPHOGLYCERATE KINASE 1 deficiency" RELATED [OMIM:300653]
synonym: "phosphoglycerate kinase 1 deficiency, X-linked recessive" EXACT [OMIM:300653, OMIM:genemap2]
synonym: "Phosphoglycerate Kinase Deficiency" EXACT [NORD:1577]
synonym: "Phosphoglycerate kinase deficiency" RELATED [GARD:0007389]
xref: DOID:0111933 {source="MONDO:equivalentTo"}
xref: GARD:7389 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:713/attributed", source="Orphanet:713/ntbt", source="Orphanet:713"}
xref: MEDGEN:410166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567067 {source="MONDO:equivalentTo"}
xref: NANDO:1200831 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126738 {source="MONDO:equivalentTo"}
xref: NORD:1577 {source="MONDO:NORD"}
xref: OMIM:300653 {source="Orphanet:713", source="MONDO:equivalentTo", source="Orphanet:713/e"}
xref: Orphanet:713 {source="MONDO:equivalentTo", source="OMIM:300653"}
xref: UMLS:C1970848 {source="MEDGEN:410166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:713"} ! disorder of glycogen metabolism
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
is_a: MONDO:0019052 {source="MESH:C567067", source="MONDO:Redundant", source="NCIT:C126738", source="Orphanet:713/inferred"} ! inborn errors of metabolism
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8896 ! PGK1
relationship: excluded_subClassOf MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:713", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis
relationship: excluded_subClassOf MONDO:0020585 {source="https://orcid.org/0000-0001-5208-3432"} ! anemia due to erythrocyte enzyme disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8896 {source="MONDO:mim2gene_medgen"} ! PGK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0010393
name: intellectual disability, X-linked 93
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BRWD3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, X-linked 93, X-linked recessive" EXACT [OMIM:300659, OMIM:genemap2]
synonym: "intellectual disability, X-linked 93" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300659]
synonym: "intellectual disability, X-linked type 93" EXACT [MONDORULE:2, OMIM:300659]
synonym: "intellectual disability, X-linked, with macrocephaly" RELATED [OMIM:300659]
synonym: "mental retardation, X-linked 93" RELATED DEPRECATED [MONDO:Lexical, OMIM:300659]
synonym: "mental retardation, X-linked type 93" EXACT DEPRECATED [MONDORULE:2, OMIM:300659]
synonym: "mental retardation, X-linked, with macrocephaly" RELATED DEPRECATED [OMIM:300659]
synonym: "MRX93" RELATED DEPRECATED [MONDO:Lexical, OMIM:300659]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in BRWD3" EXACT [MONDO:design_pattern]
xref: DOID:0112045 {source="MONDO:equivalentTo"}
xref: MEDGEN:410164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567066 {source="MONDO:equivalentTo"}
xref: OMIM:300659 {source="MONDO:equivalentTo"}
xref: UMLS:C1970841 {source="MEDGEN:410164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300659", source="MONDO:Redundant", source="OMIM:300659"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17342 ! BRWD3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17342 {source="MONDO:mim2gene_medgen"} ! BRWD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010394
name: obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome
xref: OMIM:300660 {source="Orphanet:83629/e", source="MONDO:obsoleteEquivalentObsolete", source="Orphanet:83629"}
is_obsolete: true
replaced_by: MONDO:0010275

[Term]
id: MONDO:0010395
name: phosphoribosylpyrophosphate synthetase superactivity
def: "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)." [Orphanet:3222]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3222"}
subset: orphanet_rare {source="Orphanet:3222"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gout, PRPS-related" RELATED [OMIM:300661]
synonym: "gout, PRPS-related, X-linked recessive" EXACT [OMIM:300661, OMIM:genemap2]
synonym: "phosphoribosylpyrophosphate synthetase superactivity" EXACT CLINGEN_LABEL [OMIM:300661]
synonym: "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive" EXACT [OMIM:300661, OMIM:genemap2]
synonym: "PRPP synthetase superactivity" EXACT [Orphanet:3222]
synonym: "PRPS1 superactivity" EXACT [OMIM:300661, Orphanet:3222]
xref: DOID:0111260 {source="MONDO:equivalentTo"}
xref: GARD:4337 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:3222", source="Orphanet:3222/attributed", source="Orphanet:3222/ntbt"}
xref: MEDGEN:370358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567064 {source="MONDO:equivalentTo"}
xref: OMIM:300661 {source="Orphanet:3222", source="MONDO:equivalentTo", source="Orphanet:3222/e"}
xref: Orphanet:3222 {source="OMIM:300661", source="MONDO:equivalentTo"}
xref: SCTID:723454008 {source="MONDO:equivalentTo"}
xref: UMLS:C1970827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370358"}
is_a: MONDO:0019236 {source="Orphanet:3222"} ! inborn disorder of purine metabolism
relationship: disease_has_basis_in_disruption_of GO:0004749 ! ribose phosphate diphosphokinase activity
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:3222", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 {source="MONDO:mim2gene_medgen"} ! PRPS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010396
name: developmental and epileptic encephalopathy, 2
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:505652"}
subset: orphanet_rare {source="Orphanet:505652"}
subset: rare
synonym: "CDKL5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DEE2" EXACT ABBREVIATION [OMIM:300672]
synonym: "developmental and epileptic encephalopathy 2, X-linked dominant" EXACT [OMIM:300672, OMIM:genemap2]
synonym: "developmental and epileptic encephalopathy, 2" EXACT CLINGEN_LABEL []
synonym: "early infantile epileptic encephalopathy caused by mutation in CDKL5" EXACT [MONDO:design_pattern]
synonym: "EIEE2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300672]
synonym: "epileptic encephalopathy, early infantile, 2" EXACT [MONDO:Lexical, OMIM:300672]
synonym: "epileptic encephalopathy, early infantile, type 2" EXACT [MONDORULE:1, OMIM:300672]
synonym: "infantile spasm syndrome, X-linked 2" RELATED [OMIM:300672]
xref: DOID:0080467 {source="MONDO:equivalentTo"}
xref: GARD:18617 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:505652"}
xref: MEDGEN:1663579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564064 {source="MONDO:equivalentTo"}
xref: OMIM:300672 {source="MONDO:equivalentTo", source="Orphanet:505652"}
xref: Orphanet:505652 {source="MONDO:equivalentTo"}
xref: UMLS:C4750718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1663579"}
is_a: MONDO:0015653 {source="Orphanet:505652"} ! monogenic epilepsy
is_a: MONDO:0017746 {source="Orphanet:3095/btnt"} ! atypical Rett syndrome
is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome
is_a: MONDO:0100062 {source="DC-OMIM:300672", source="MONDO:Redundant", source="OMIM:300672"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11411 ! CDKL5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11411 {source="MONDO:mim2gene_medgen", source="Orphanet:505652"} ! CDKL5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010397
name: severe neonatal-onset encephalopathy with microcephaly
def: "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." [NCIT:C132293]
subset: gard_rare {source="GARD:17103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209370"}
subset: orphanet_rare {source="Orphanet:209370"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy, neonatal severe, due to MECP2 mutations" RELATED [OMIM:300673]
synonym: "encephalopathy, neonatal severe, X-linked recessive" EXACT [OMIM:300673, OMIM:genemap2]
synonym: "severe congenital encephalopathy due to MECP2 mutation" EXACT [Orphanet:209370]
synonym: "severe neonatal encephalopathy due to MECP2 mutations" EXACT [NCIT:C132293]
xref: DOID:0111932 {source="MONDO:equivalentTo"}
xref: GARD:17103 {source="MONDO:GARD"}
xref: ICD10CM:Q02 {source="Orphanet:209370", source="Orphanet:209370/attributed", source="Orphanet:209370/ntbt"}
xref: MEDGEN:409616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566878 {source="MONDO:equivalentTo"}
xref: NCIT:C132293 {source="MONDO:equivalentTo"}
xref: OMIM:300673 {source="Orphanet:209370", source="MONDO:equivalentTo", source="Orphanet:209370/e"}
xref: Orphanet:209370 {source="MONDO:equivalentTo", source="OMIM:300673"}
xref: UMLS:C1968556 {source="MEDGEN:409616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015653 {source="Orphanet:209370"} ! monogenic epilepsy
is_a: MONDO:0020070 {source="Orphanet:209370"} ! neonatal epilepsy syndrome
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: has_characteristic HP:0003623 {source="NCIT:C132293"} ! Neonatal onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0010398
name: syndromic X-linked intellectual disability 14
def: "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive" EXACT [OMIM:300676, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic 14" EXACT [DOID:0060821, MONDO:Lexical, OMIM:300676]
synonym: "intellectual disability, X-linked, syndromic type 14" EXACT [MONDORULE:2, OMIM:300676]
synonym: "mental retardation, X-linked, syndromic 14" EXACT DEPRECATED [DOID:0060821, MONDO:Lexical, OMIM:300676]
synonym: "mental retardation, X-linked, syndromic type 14" EXACT DEPRECATED [MONDORULE:2, OMIM:300676]
synonym: "MRXS14" RELATED DEPRECATED [MONDO:Lexical, OMIM:300676]
synonym: "syndromic X-linked intellectual disability 14" EXACT CLINGEN_LABEL []
synonym: "syndromic X-linked intellectual disability type 14" EXACT [DOID:0060821, MONDORULE:2]
synonym: "UPF3B X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked syndromic intellectual disability caused by mutation in UPF3B" EXACT [MONDO:design_pattern]
xref: DOID:0060821 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q87.8 {source="DOID:0060821"}
xref: MEDGEN:372646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537923 {source="DOID:0060821"}
xref: MESH:C567063 {source="MONDO:equivalentTo"}
xref: OMIM:300676 {source="MONDO:equivalentTo", source="DOID:0060821"}
xref: Orphanet:323 {source="MONDO:relatedTo", source="OMIM:300676", source="DOID:0060821"}
xref: Orphanet:776 {source="OMIM:300676", source="DOID:0060821"}
xref: UMLS:C1970822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372646"}
is_a: MONDO:0020119 {source="DOID:0060821", source="MONDO:Redundant", source="OMIM:300676", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20439 ! UPF3B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20439 {source="MONDO:mim2gene_medgen"} ! UPF3B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010399
name: chromosome Xp21 deletion syndrome
subset: gard_rare {source="GARD:17246", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261476"}
subset: orphanet_rare {source="Orphanet:261476"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome Xp21 deletion syndrome" EXACT [OMIM:300679]
synonym: "Complex Glycerol kinase deficiency" RELATED [OMIM:300679]
synonym: "complex glycerol kinase deficiency" EXACT [DOID:0060427]
synonym: "Del(X)(p21)" EXACT [Orphanet:261476]
synonym: "Glycerol kinase deficiency-contiguous gene syndrome" EXACT [Orphanet:261476]
synonym: "monosomy Xp21" EXACT [DOID:0060427]
synonym: "Xp21 contiguous gene deletion syndrome" EXACT [Orphanet:261476]
synonym: "Xp21 microdeletion syndrome" EXACT [DOID:0060427, Orphanet:261476]
xref: DOID:0060427 {source="MONDO:equivalentTo"}
xref: GARD:17246 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:261476", source="DOID:0060427", source="Orphanet:261476/attributed", source="Orphanet:261476/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:162885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300679 {source="MONDO:equivalentTo", source="Orphanet:261476", source="DOID:0060427", source="Orphanet:261476/e"}
xref: Orphanet:261476 {source="MONDO:equivalentTo", source="DOID:0060427", source="OMIM:300679"}
xref: SCTID:297257004 {source="MONDO:equivalentTo"}
xref: UMLS:C0795887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162885"}
is_a: MONDO:0000761 {source="DC-OMIM:300679", source="DOID:0060427"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0010613 {source="Orphanet:261476"} ! inborn glycerol kinase deficiency
is_a: MONDO:0017004 {source="Orphanet:261476"} ! partial monosomy of the short arm of chromosome X
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chrXp21 ! Xp21 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0010400
name: X-linked scapuloperoneal muscular dystrophy
def: "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging." [Orphanet:431272]
subset: gard_rare {source="GARD:7608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431272"}
subset: orphanet_rare {source="Orphanet:431272"}
subset: rare
synonym: "scapuloperoneal myopathy, FHL1-related" RELATED [OMIM:300695]
synonym: "scapuloperoneal myopathy, X-linked dominant" RELATED [MONDO:Lexical, OMIM:300695]
synonym: "scapuloperoneal myopathy, X-linked dominant, X-linked dominant" EXACT [OMIM:300695, OMIM:genemap2]
synonym: "SPM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300695]
synonym: "X-linked scapuloperoneal syndrome" EXACT [Orphanet:431272]
synonym: "X-linked SPMD" EXACT [Orphanet:431272]
xref: GARD:7608 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:431272/attributed", source="Orphanet:431272/ntbt", source="Orphanet:431272"}
xref: MEDGEN:395530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300695 {source="Orphanet:431272/e", source="MONDO:equivalentTo", source="Orphanet:431272"}
xref: Orphanet:431272 {source="MONDO:equivalentTo"}
xref: UMLS:C2678061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395530"}
is_a: MONDO:0000727 {source="DC-OMIM:300695"} ! scapuloperoneal myopathy
is_a: MONDO:0016106 ! progressive muscular dystrophy
relationship: disease_has_feature HP:0100306 ! Muscle fiber hyaline bodies
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010401
name: X-linked myopathy with postural muscle atrophy
def: "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." [Orphanet:178461]
subset: gard_rare {source="GARD:17081", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178461"}
subset: orphanet_rare {source="Orphanet:178461"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:300696, OMIM:genemap2]
synonym: "Emery-Dreifuss muscular dystrophy 6, X-linked" RELATED [OMIM:300696]
synonym: "myopathy, X-linked, with postural muscle atrophy" RELATED [MONDO:Lexical, OMIM:300696]
synonym: "myopathy, X-linked, with postural muscle atrophy, X-linked recessive" EXACT [OMIM:300696, OMIM:genemap2]
synonym: "X-linked myopathy with postural muscle atrophy" EXACT CLINGEN_LABEL []
synonym: "XMPMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300696, Orphanet:178461]
xref: DOID:0070251 {source="MONDO:equivalentTo"}
xref: GARD:17081 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:178461/attributed", source="Orphanet:178461/ntbt", source="Orphanet:178461"}
xref: MEDGEN:395525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300696 {source="Orphanet:178461/e", source="MONDO:equivalentTo", source="Orphanet:178461"}
xref: Orphanet:178461 {source="MONDO:equivalentTo", source="OMIM:300696"}
xref: Orphanet:261 {source="OMIM:300696"}
xref: Orphanet:98863 {source="OMIM:300696"}
xref: UMLS:C2678055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395525"}
is_a: MONDO:0010680 {source="https://orcid.org/0000-0001-5493-2602"} ! X-linked Emery-Dreifuss muscular dystrophy
is_a: MONDO:0016830 {source="DC-OMIM:300696", source="OMIM:300696"} ! Emery-Dreifuss muscular dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6738" xsd:anyURI

[Term]
id: MONDO:0010402
name: syndromic X-linked intellectual disability 94
def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25." [DOID:0060823, PMID:17989220, PMID:19449417, PMID:24721225]
synonym: "intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive" EXACT [OMIM:300699, OMIM:genemap2]
synonym: "intellectual disability, X-linked 94" EXACT [DOID:0060823, OMIM:300699]
synonym: "intellectual disability, X-linked, syndromic 29" RELATED [OMIM:300699]
synonym: "intellectual disability, X-linked, syndromic, Wu type" RELATED [MONDO:Lexical, OMIM:300699]
synonym: "mental retardation, X-linked 94" EXACT DEPRECATED [DOID:0060823, OMIM:300699]
synonym: "mental retardation, X-linked, syndromic 29" RELATED DEPRECATED [OMIM:300699]
synonym: "mental retardation, X-linked, syndromic, Wu type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300699]
synonym: "MRX94" EXACT ABBREVIATION [DOID:0060823]
synonym: "MRXS29" EXACT ABBREVIATION [DOID:0060823]
synonym: "MRXSW" RELATED DEPRECATED [MONDO:Lexical, OMIM:300699]
synonym: "syndromic X-linked intellectual disability 29" EXACT [DOID:0060823]
synonym: "syndromic X-linked intellectual disability 94" EXACT CLINGEN_LABEL []
synonym: "syndromic X-linked intellectual disability due to GRIA3 anomalies" EXACT [DOID:0060823]
synonym: "syndromic X-linked intellectual disability type 94" EXACT [DOID:0060823, MONDORULE:2]
synonym: "syndromic X-linked intellectual disability Wu type" EXACT [DOID:0060823]
synonym: "syndromic X-linked mental retardation 29" EXACT DEPRECATED [DOID:0060823]
synonym: "syndromic X-linked mental retardation Wu type" EXACT DEPRECATED [DOID:0060823]
xref: DOID:0060823 {source="MONDO:equivalentTo"}
xref: ICD10CM:F72 {source="DOID:0060823"}
xref: MEDGEN:437111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567479 {source="MONDO:equivalentTo"}
xref: OMIM:300699 {source="MONDO:equivalentTo", source="DOID:0060823"}
xref: Orphanet:364028 {source="DOID:0060823", source="OMIM:300699"}
xref: UMLS:C2678051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:437111"}
is_a: MONDO:0020119 {source="OMIM:300699"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4573 {source="MONDO:mim2gene_medgen"} ! GRIA3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010403
name: albinism-hearing loss syndrome
def: "A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1." [Orphanet:998]
comment: Editor note: check whether precisely identical to Woolf syndrome
subset: gard_rare {source="GARD:589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:998"}
subset: ordo_malformation_syndrome {source="Orphanet:998"}
subset: orphanet_rare {source="Orphanet:998"}
subset: rare
synonym: "ADFN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300700]
synonym: "albinism deafness syndrome" NARROW [GARD:0000589]
synonym: "albinism-deafness syndrome" NARROW [MONDO:Lexical, OMIM:300700, OMIM:genemap2]
synonym: "ALDS" RELATED ABBREVIATION [OMIM:300700]
synonym: "Woolf syndrome" RELATED [Wikipedia:Albinism-deafness_syndrome]
synonym: "Woolf's syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome]
synonym: "Ziprkowski–Margolis syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome]
xref: GARD:589 {source="MONDO:GARD"}
xref: ICD10CM:H90.5 {source="Orphanet:998/attributed", source="Orphanet:998/ntbt", source="Orphanet:998"}
xref: MEDGEN:375573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537042 {source="Orphanet:998", source="MONDO:equivalentTo", source="Orphanet:998/e"}
xref: OMIM:300700 {source="Orphanet:998", source="MONDO:equivalentTo", source="Orphanet:998/e"}
xref: Orphanet:998 {source="MONDO:equivalentTo", source="OMIM:300700"}
xref: SCTID:722285005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:74320008 {source="MONDO:equivalentTo"}
xref: UMLS:C1845068 {source="MEDGEN:375573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019290 {source="MESH:C537042/inferred", source="Orphanet:998"} ! hypopigmentation of the skin
is_a: MONDO:0043209 {source="MESH:C537042", source="https://orcid.org/0000-0002-6601-2165"} ! albinism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome" xsd:anyURI {source="GARD:0000589"}

[Term]
id: MONDO:0010404
name: X-linked non progressive cerebellar ataxia
def: "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." [Orphanet:314978]
subset: gard_rare {source="GARD:17439", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314978"}
subset: orphanet_rare {source="Orphanet:314978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300703, Orphanet:314978]
synonym: "spinocerebellar ataxia, X-linked 5" RELATED [MONDO:Lexical, OMIM:300703]
synonym: "spinocerebellar ataxia, X-linked 5, X-linked recessive" EXACT [OMIM:300703, OMIM:genemap2]
synonym: "X-linked spinocerebellar ataxia type 5" EXACT [Orphanet:314978]
xref: DOID:0111833 {source="MONDO:equivalentTo"}
xref: GARD:17439 {source="MONDO:GARD"}
xref: ICD10CM:G11.0 {source="Orphanet:314978", source="Orphanet:314978/attributed", source="Orphanet:314978/ntbt"}
xref: MEDGEN:394718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567478 {source="MONDO:equivalentTo"}
xref: OMIM:300703 {source="MONDO:equivalentTo", source="Orphanet:314978", source="Orphanet:314978/e"}
xref: Orphanet:314978 {source="MONDO:equivalentTo", source="OMIM:300703"}
xref: SCTID:766818009 {source="MONDO:equivalentTo"}
xref: UMLS:C2678048 {source="MEDGEN:394718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016612 {source="Orphanet:314978"} ! X-linked cerebellar ataxia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010405
name: prostate cancer, hereditary, X-linked 2
subset: gard_rare {source="GARD:15260", source="MONDO:GARD"}
subset: rare
synonym: "HPCX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300704]
synonym: "prostate cancer, hereditary, X-linked 2" EXACT [MONDO:Lexical, OMIM:300704]
xref: GARD:15260 {source="MONDO:GARD"}
xref: MEDGEN:394426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567477 {source="MONDO:equivalentTo"}
xref: OMIM:300704 {source="MONDO:equivalentTo"}
xref: UMLS:C2678047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394426"}
is_a: MONDO:0008315 {source="DC-OMIM:300704", source="MONDO:0010405/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0010406
name: chromosome Xp11.22 duplication syndrome
subset: gard_rare {source="GARD:22683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome Xp11.22 duplication syndrome" EXACT [OMIM:300705]
synonym: "intellectual disability, X-linked 17" RELATED [OMIM:300705]
synonym: "intellectual disability, X-linked 31" RELATED [OMIM:300705]
synonym: "mental retardation, X-linked 17" RELATED DEPRECATED [OMIM:300705]
synonym: "mental retardation, X-linked 31" RELATED DEPRECATED [OMIM:300705]
synonym: "Xp11.22 microduplication syndrome" EXACT [OMIM:300705, OMIM:genemap2]
synonym: "Xp11.22-linked intellectual disability" EXACT [DECIPHER:90]
xref: DECIPHER:90 {source="MONDO:equivalentTo"}
xref: DOID:0112037 {source="MONDO:equivalentTo"}
xref: GARD:22683 {source="MONDO:GARD"}
xref: MEDGEN:208679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300705 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300705"}
xref: UMLS:C0796238 {source="MEDGEN:208679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300705", source="OMIM:300705"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010407
name: intellectual disability, X-linked syndromic, Turner type
def: "An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." [Orphanet:85328]
subset: gard_rare {source="GARD:81", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:85328"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brooks Wisniewski Brown syndrome" EXACT [GARD:0005610]
synonym: "Brooks-Wisniewski-Brown Syndrome" EXACT [OMIM:309590]
synonym: "Brooks-Wisniewski-Brown syndrome" EXACT [MONDO:0010376, OMIM:300612]
synonym: "intellectual disability, X-linked syndromic, Turner type" EXACT CLINGEN_LABEL []
synonym: "Juberg-Marsidi Syndrome" RELATED [OMIM:309590]
synonym: "mental retardation and macrocephaly syndrome" EXACT DEPRECATED [DOID:0060811, OMIM:300706, OMIM:309590]
synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type" RELATED DEPRECATED [OMIM:309590]
synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type" RELATED DEPRECATED [OMIM:300612]
synonym: "mental retardation, X-linked, syndromic, Turner type" EXACT DEPRECATED [DOID:0060811, MONDO:Lexical, OMIM:300706, OMIM:309590]
synonym: "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism" RELATED DEPRECATED [OMIM:309590]
synonym: "MRXST" EXACT ABBREVIATION [DOID:0060811, MONDO:Lexical, OMIM:300706]
synonym: "syndromic X-linked intellectual disability Turner type" EXACT [OMIM:309590]
synonym: "X-linked intellectual disability, Brooks type" EXACT [DOID:0060829]
synonym: "X-linked intellectual disability, Turner type" EXACT [Orphanet:85328]
synonym: "X-linked mental retardation Brooks type" RELATED DEPRECATED [GARD:0005610]
xref: DOID:0060811 {source="MONDO:equivalentTo"}
xref: DOID:0060829 {source="MONDO:equivalentObsolete"}
xref: GARD:81 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060829", source="Orphanet:3056", source="Orphanet:3056/attributed", source="Orphanet:3056/ntbt", source="Orphanet:85328", source="Orphanet:85328/attributed", source="Orphanet:85328/ntbt"}
xref: MEDGEN:394425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563154 {source="MONDO:equivalentTo"}
xref: MESH:C567476 {source="MONDO:equivalentTo"}
xref: OMIM:300612 {source="DOID:0060829", source="Orphanet:3056", source="MONDO:equivalentObsolete", source="Orphanet:3056/e"}
xref: OMIM:300706 {source="MONDO:equivalentObsolete", source="DOID:0060811", source="Orphanet:85328", source="Orphanet:85328/e"}
xref: OMIM:309590 {source="Orphanet:3056", source="MONDO:equivalentTo"}
xref: Orphanet:3056 {source="DOID:0060829", source="MONDO:equivalentObsolete", source="OMIM:300612"}
xref: Orphanet:85328 {source="OMIM:300706", source="MONDO:equivalentObsolete", source="OMIM:309590", source="DOID:0060811", source="MONDO:preferredExternal"}
xref: SCTID:725912001 {source="MONDO:equivalentTo"}
xref: UMLS:C2678046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394425"}
is_a: MONDO:0000001 {source="OMIM:309590"} ! disease
is_a: MONDO:0020119 {source="DC-OMIM:300706", source="DOID:0060811", source="DOID:0060829", source="OMIM:300612", source="OMIM:300706", source="OMIM:309590", source="Orphanet:3056", source="Orphanet:85328", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30892 {source="MONDO:mim2gene_medgen"} ! HUWE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010408
name: syndactyly-telecanthus-anogenital and renal malformations syndrome
def: "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." [Orphanet:140952]
subset: gard_rare {source="GARD:10295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140952"}
subset: ordo_malformation_syndrome {source="Orphanet:140952"}
subset: orphanet_rare {source="Orphanet:140952"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "STAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300707]
synonym: "STAR syndrome" EXACT [Orphanet:140952]
synonym: "Star syndrome" RELATED [OMIM:300707]
synonym: "STAR syndrome, X-linked dominant" EXACT [OMIM:300707, OMIM:genemap2]
synonym: "syndactyly with renal and anogenital malformations" RELATED [OMIM:300707]
synonym: "syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295]
synonym: "syndactyly-telecanthus-anogenital and renal malformations syndrome" EXACT CLINGEN_LABEL []
synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" RELATED [MONDO:Lexical, OMIM:300707]
synonym: "toe syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295]
xref: DOID:0111931 {source="MONDO:equivalentTo"}
xref: GARD:10295 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:140952", source="Orphanet:140952/attributed", source="Orphanet:140952/ntbt"}
xref: MEDGEN:394424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567475 {source="MONDO:equivalentTo"}
xref: OMIM:300707 {source="Orphanet:140952/e", source="MONDO:equivalentTo", source="Orphanet:140952"}
xref: Orphanet:140952 {source="OMIM:300707", source="MONDO:equivalentTo"}
xref: SCTID:723581006 {source="MONDO:equivalentTo"}
xref: UMLS:C2678045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394424"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:140952"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28434 {source="MONDO:mim2gene_medgen"} ! CCNQ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010409
name: syndromic X-linked intellectual disability Shrimpton type
def: "X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome." [Orphanet:85324]
subset: gard_rare {source="GARD:16751", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85324"}
subset: ordo_malformation_syndrome {source="Orphanet:85324"}
subset: orphanet_rare {source="Orphanet:85324"}
subset: rare
synonym: "intellectual disability, X-linked, syndromic 9" EXACT [DOID:0060813, MONDO:Lexical, OMIM:300709]
synonym: "mental retardation, X-linked, syndromic 9" EXACT DEPRECATED [DOID:0060813, MONDO:Lexical, OMIM:300709]
synonym: "MRXS9" EXACT ABBREVIATION [DOID:0060813, MONDO:Lexical, OMIM:300709, Orphanet:85324]
synonym: "X-linked intellectual disability, Shrimpton type" RELATED [Orphanet:85324]
xref: DOID:0060813 {source="MONDO:equivalentTo"}
xref: GARD:16751 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85324/attributed", source="Orphanet:85324/ntbt", source="Orphanet:85324", source="DOID:0060813"}
xref: MEDGEN:395523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567474 {source="MONDO:equivalentTo"}
xref: OMIM:300709 {source="Orphanet:85324", source="MONDO:equivalentTo", source="DOID:0060813", source="Orphanet:85324/e"}
xref: Orphanet:85324 {source="OMIM:300709", source="MONDO:equivalentTo", source="DOID:0060813"}
xref: UMLS:C2678039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395523"}
is_a: MONDO:0020119 {source="DC-OMIM:300709", source="DOID:0060813", source="OMIM:300709", source="Orphanet:85324", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010410
name: alopecia, androgenetic, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AGA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300710]
synonym: "alopecia, androgenetic, 2" EXACT [MONDO:Lexical, OMIM:300710]
xref: MEDGEN:395522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567473 {source="MONDO:equivalentTo"}
xref: OMIM:300710 {source="MONDO:equivalentTo"}
xref: UMLS:C2678038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395522"}
is_a: MONDO:0000005 {source="DC-OMIM:300710", source="OMIM:300710"} ! alopecia, isolated
is_a: MONDO:0005339 ! androgenetic alopecia

[Term]
id: MONDO:0010411
name: pyloric stenosis, infantile hypertrophic, 4
synonym: "IHPS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300711]
synonym: "pyloric stenosis, infantile hypertrophic, 4" EXACT [MONDO:Lexical, OMIM:300711]
xref: MEDGEN:395521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567472 {source="MONDO:equivalentTo"}
xref: OMIM:300711 {source="MONDO:equivalentTo"}
xref: UMLS:C2678037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395521"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100239 {source="DC-OMIM:300711", source="MESH:C567472", source="OMIM:300711"} ! inherited hypertrophic pyloric stenosis

[Term]
id: MONDO:0010412
name: X-linked intellectual disability-craniofacioskeletal syndrome
def: "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." [Orphanet:163979]
subset: gard_rare {source="GARD:17009", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163979"}
subset: orphanet_rare {source="Orphanet:163979"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniofacioskeletal syndrome" RELATED [OMIM:300712]
synonym: "craniofacioskeletal syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300712, OMIM:genemap2]
xref: GARD:17009 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:163979/attributed", source="Orphanet:163979/ntbt", source="Orphanet:163979"}
xref: MEDGEN:394716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567471 {source="MONDO:equivalentTo"}
xref: OMIM:300712 {source="Orphanet:163979/e", source="MONDO:equivalentTo", source="Orphanet:163979"}
xref: Orphanet:163979 {source="MONDO:equivalentTo", source="OMIM:300712"}
xref: UMLS:C2678036 {source="MEDGEN:394716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="Orphanet:163979", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010413
name: intellectual disability, X-linked 95
subset: gard_rare {source="GARD:22684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 95" EXACT [MONDO:Lexical, OMIM:300716]
synonym: "mental retardation, X-linked 95" RELATED DEPRECATED [MONDO:Lexical, OMIM:300716]
synonym: "mental retardation, X-linked 95, X-linked dominant" EXACT [OMIM:300716, OMIM:genemap2]
synonym: "MRX95" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300716]
xref: GARD:22684 {source="MONDO:GARD"}
xref: MEDGEN:394715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567470 {source="MONDO:equivalentTo"}
xref: OMIM:300716 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300716"}
xref: UMLS:C2678034 {source="MEDGEN:394715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300716", source="OMIM:300716"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010414
name: myopathy, reducing body, X-linked, early-onset, severe
subset: gard_rare {source="GARD:15261", source="MONDO:GARD"}
subset: rare
synonym: "myopathy, reducing body, X-linked, early-onset, severe" EXACT [OMIM:300717]
synonym: "RBMX1A" RELATED ABBREVIATION [OMIM:300717]
synonym: "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant" EXACT [OMIM:300717, OMIM:genemap2]
synonym: "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset" RELATED [OMIM:300717]
xref: GARD:15261 {source="MONDO:GARD"}
xref: MEDGEN:906731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567469 {source="MONDO:equivalentTo"}
xref: OMIM:300717 {source="MONDO:equivalentTo"}
xref: Orphanet:97239 {source="OMIM:300717"}
xref: UMLS:C4225423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906731"}
is_a: MONDO:0019948 {source="Orphanet:97239/btnt"} ! reducing body myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010415
name: myopathy, reducing body, X-linked, childhood-onset
subset: gard_rare {source="GARD:15262", source="MONDO:GARD"}
subset: rare
synonym: "myopathy, reducing body, X-linked, childhood-onset" EXACT [OMIM:300718]
synonym: "RBMX1B" RELATED ABBREVIATION [OMIM:300718]
synonym: "reducing body myopathy, X-linked 1B, with late childhood or adult onset" RELATED [OMIM:300718]
xref: DOID:0080687 {source="MONDO:equivalentTo"}
xref: GARD:15262 {source="MONDO:GARD"}
xref: MEDGEN:904593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567468 {source="MONDO:equivalentTo"}
xref: OMIM:300718 {source="MONDO:equivalentTo"}
xref: Orphanet:97239 {source="OMIM:300718"}
xref: UMLS:C4225159 {source="MEDGEN:904593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019948 {source="Orphanet:97239/btnt"} ! reducing body myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1

[Term]
id: MONDO:0010416
name: deafness, cataract, retinitis pigmentosa, and sperm abnormalities
synonym: "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" EXACT [OMIM:300719]
synonym: "deafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive" EXACT [OMIM:300719, OMIM:genemap2]
xref: MEDGEN:395517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567467 {source="MONDO:equivalentTo"}
xref: OMIM:300719 {source="MONDO:equivalentTo"}
xref: UMLS:C2678011 {source="MEDGEN:395517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C567467/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010417
name: syndromic X-linked intellectual disability Najm type
def: "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." [Orphanet:163937]
subset: gard_rare {source="GARD:12669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163937"}
subset: orphanet_rare {source="Orphanet:163937"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant" EXACT [OMIM:300749, OMIM:genemap2]
synonym: "intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia" RELATED [MONDO:Lexical, OMIM:300749]
synonym: "intellectual disability and microcephaly with pontine and cerebellar hypoplasia" EXACT [DOID:0060807, GARD:0012669]
synonym: "intellectual disability, X-linked, syndromic, Najm type" RELATED [OMIM:300749]
synonym: "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia" RELATED DEPRECATED [MONDO:Lexical, OMIM:300749]
synonym: "mental retardation and microcephaly with pontine and cerebellar hypoplasia" EXACT DEPRECATED [DOID:0060807]
synonym: "mental retardation, X-linked, syndromic, Najm type" RELATED DEPRECATED [OMIM:300749]
synonym: "MICPCH" EXACT ABBREVIATION [DOID:0060807, MONDO:Lexical, OMIM:300749, Orphanet:163937]
synonym: "Micpch syndrome" RELATED [OMIM:300749]
synonym: "microcephaly with pontine and cerebellar hypoplasia" RELATED [GARD:0012669]
synonym: "syndromic X-linked intellectual disability Najm type" EXACT CLINGEN_LABEL []
synonym: "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia" RELATED [GARD:0012669]
synonym: "X-linked intellectual disability, Najm type" RELATED [Orphanet:163937]
synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [DOID:0060807, Orphanet:163937]
xref: DOID:0060807 {source="MONDO:equivalentTo"}
xref: GARD:12669 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:163937", source="DOID:0060807", source="Orphanet:163937/attributed", source="Orphanet:163937/ntbt"}
xref: MEDGEN:437070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567466 {source="MONDO:equivalentTo"}
xref: OMIM:300749 {source="Orphanet:163937", source="DOID:0060807", source="MONDO:equivalentTo", source="Orphanet:163937/e"}
xref: Orphanet:163937 {source="DOID:0060807", source="OMIM:300749", source="MONDO:equivalentTo"}
xref: UMLS:C2677903 {source="MONDO:equivalentTo", source="MEDGEN:437070", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0020119 {source="DC-OMIM:300749", source="DOID:0060807", source="OMIM:300749", source="Orphanet:163937", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:163937", source="Orphanet:163937/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1497 {source="MONDO:mim2gene_medgen"} ! CASK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010418
name: hereditary spastic paraplegia 34
def: "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients." [Orphanet:171607]
subset: gard_rare {source="GARD:17063", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171607"}
subset: orphanet_rare {source="Orphanet:171607"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary spastic paraplegia type 34" EXACT [DOID:0110785, MONDORULE:2]
synonym: "spastic paraplegia 34, X-linked" RELATED [MONDO:Lexical, OMIM:300750]
synonym: "spastic paraplegia 34, X-linked, X-linked recessive" EXACT [OMIM:300750, OMIM:genemap2]
synonym: "SPG34" EXACT ABBREVIATION [DOID:0110785, MONDO:Lexical, OMIM:300750, Orphanet:171607]
synonym: "X-linked spastic paraplegia 34" EXACT [DOID:0110785]
synonym: "X-linked spastic paraplegia type 34" EXACT [DOID:0110785]
xref: DOID:0110785 {source="MONDO:equivalentTo"}
xref: GARD:17063 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:171607/attributed", source="Orphanet:171607/ntbt", source="Orphanet:171607", source="DOID:0110785"}
xref: MEDGEN:437069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567465 {source="MONDO:equivalentTo"}
xref: OMIM:300750 {source="Orphanet:171607", source="MONDO:equivalentTo", source="Orphanet:171607/e", source="DOID:0110785"}
xref: Orphanet:171607 {source="MONDO:equivalentTo", source="OMIM:300750", source="DOID:0110785"}
xref: SCTID:763370008 {source="MONDO:equivalentTo"}
xref: UMLS:C2677897 {source="MEDGEN:437069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110785", source="MESH:C567465", source="MONDO:Redundant", source="OMIM:300750", source="Orphanet:171607/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0010419
name: obsolete X-linked sideroblastic anemia
comment: This term is duplicative with X-linked sideroblastic anemia 1.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2107" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020721

[Term]
id: MONDO:0010420
name: X-linked erythropoietic protoporphyria
def: "X-linked form of erythropoietic protoporphyria." [MONDO:patterns/x_linked]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17755", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443197"}
subset: orphanet_rare {source="Orphanet:443197"}
subset: rare
synonym: "Erythrohepatic protoporphyria, X-linked" RELATED [OMIM:300752]
synonym: "erythropoietic protoporphyria, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "protoporphyria, erythropoietic, X-linked" RELATED [MONDO:Lexical, OMIM:300752]
synonym: "protoporphyria, erythropoietic, X-linked dominant" RELATED [OMIM:300752]
synonym: "X-linked dominant erythropoietic protoporphyria" EXACT [Orphanet:443197]
synonym: "X-linked dominant protoporphyria" EXACT [Orphanet:443197]
synonym: "XLDPP" EXACT ABBREVIATION [Orphanet:443197]
synonym: "XLEPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300752]
synonym: "XLP" RELATED ABBREVIATION [Orphanet:443197]
synonym: "XLPP" EXACT ABBREVIATION [Orphanet:443197]
xref: GARD:17755 {source="MONDO:GARD"}
xref: ICD10CM:E80.0 {source="Orphanet:443197/attributed", source="Orphanet:443197/ntbt", source="Orphanet:443197"}
xref: MEDGEN:394385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567464 {source="MONDO:equivalentTo"}
xref: NANDO:1200818 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201269 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:300752 {source="Orphanet:443197/e", source="MONDO:equivalentTo", source="Orphanet:443197"}
xref: Orphanet:443197 {source="MONDO:equivalentTo"}
xref: Orphanet:79278 {source="OMIM:300752", source="MONDO:directSiblingOf"}
xref: UMLS:C2677889 {source="MEDGEN:394385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001676 {source="DC-OMIM:300752", source="MESH:C567464", source="MONDO:Redundant", source="OMIM:300752"} ! erythropoietic protoporphyria
intersection_of: MONDO:0001676 ! erythropoietic protoporphyria
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/397 {source="MONDO:mim2gene_medgen"} ! ALAS2

[Term]
id: MONDO:0010421
name: Bruton-type agammaglobulinemia
def: "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy." [Orphanet:47]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:47"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agammaglobulinemia, Bruton tyrosine kinase" RELATED [GARD:0001033]
synonym: "agammaglobulinemia, BTK" RELATED [GARD:0001033]
synonym: "agammaglobulinemia, X-linked" RELATED [MONDO:Lexical, OMIM:300755]
synonym: "agammaglobulinemia, X-linked 1, X-linked recessive" EXACT [OMIM:300755, OMIM:genemap2]
synonym: "agammaglobulinemia, X-linked, type 1" RELATED [OMIM:300755]
synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT [DOID:14179]
synonym: "Bruton type agammaglobulinemia" EXACT [Orphanet:47]
synonym: "Bruton's agammaglobulinaemia" EXACT [DOID:14179]
synonym: "Bruton's agammaglobulinemia" RELATED [GARD:0001033]
synonym: "Bruton's Sex-linked agammaglobulinemia" EXACT [DOID:14179, NCIT:C3822]
synonym: "Bruton's type agammaglobulinemia" EXACT [DOID:14179]
synonym: "Bruton's X-linked agammaglobulinemia" EXACT [NCIT:C3822]
synonym: "Bruton-type agammaglobulinemia" EXACT CLINGEN_LABEL [OMIM:300755]
synonym: "BTK deficiency" EXACT [DOID:14179]
synonym: "BTK-deficiency" EXACT [Orphanet:47]
synonym: "hypogammaglobulinemia, X-linked" RELATED [OMIM:300755]
synonym: "immunodeficiency 1" RELATED [OMIM:300755]
synonym: "X-linked agammaglobulinemia" EXACT [NCIT:C3822]
synonym: "XLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300755]
xref: DOID:14179 {source="MONDO:equivalentTo"}
xref: GARD:1033 {source="MONDO:GARD"}
xref: ICD10CM:D80.0 {source="Orphanet:47/ntbt", source="Orphanet:47/inclusion", source="Orphanet:47"}
xref: MedDRA:10060360 {source="Orphanet:47", source="Orphanet:47/e"}
xref: MEDGEN:65123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537409 {source="Orphanet:47", source="MONDO:equivalentTo", source="DOID:14179", source="Orphanet:47/e"}
xref: NANDO:1200343 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200716 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3822 {source="MONDO:equivalentTo", source="DOID:14179"}
xref: OMIM:300755 {source="Orphanet:47", source="MONDO:equivalentTo", source="DOID:14179", source="Orphanet:47/e"}
xref: Orphanet:229717 {source="OMIM:300755"}
xref: Orphanet:47 {source="MONDO:equivalentTo", source="DOID:14179", source="OMIM:300755"}
xref: SCTID:116133005 {source="DOID:14179"}
xref: SCTID:190983003 {source="DOID:14179"}
xref: SCTID:65880007 {source="MONDO:equivalentTo", source="DOID:14179"}
xref: UMLS:C0221026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65123"}
is_a: MONDO:0016462 {source="Orphanet:47"} ! isolated agammaglobulinemia
is_a: MONDO:0021094 {source="OMIM:300755"} ! immunodeficiency disease
relationship: disease_has_feature HP:0002721 {source="OMIM:300755"} ! Immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1133 {source="MONDO:mim2gene_medgen"} ! BTK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010422
name: Alzheimer disease 16
def: "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3." [DOID:0110036, PMID:19136949]
synonym: "AD16" EXACT ABBREVIATION [DOID:0110036, MONDO:Lexical, OMIM:300756]
synonym: "Alzheimer disease 16" EXACT [MONDO:Lexical, OMIM:300756]
synonym: "Alzheimer's disease 16" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 16" EXACT [DOID:0110036, MONDORULE:2]
xref: DOID:0110036 {source="MONDO:equivalentTo"}
xref: MEDGEN:394384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567463 {source="MONDO:equivalentTo"}
xref: OMIM:300756 {source="MONDO:equivalentTo", source="DOID:0110036"}
xref: UMLS:C2677888 {source="MONDO:equivalentTo", source="MEDGEN:394384", source="MONDO:MEDGEN"}
is_a: MONDO:0004975 {source="DC-OMIM:300756", source="DOID:0110036", source="MESH:C567463"} ! Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0010423
name: hypospadias 2, X-linked
subset: gard_rare {source="GARD:18186", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypospadias 2, X-linked" EXACT [MONDO:Lexical, OMIM:300758]
synonym: "hypospadias 2, X-linked, X-linked recessive" EXACT [OMIM:300758, OMIM:genemap2]
synonym: "HYSP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300758]
xref: GARD:18186 {source="MONDO:GARD"}
xref: MEDGEN:437064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567462 {source="MONDO:equivalentTo"}
xref: OMIM:300758 {source="MONDO:equivalentTo"}
xref: Orphanet:440 {source="OMIM:300758"}
xref: UMLS:C2677879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:437064"}
is_a: MONDO:0005345 {source="DC-OMIM:300758", source="MESH:C567462", source="OMIM:300758"} ! hypospadias
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2568 {source="MONDO:mim2gene_medgen"} ! MAMLD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010424
name: surfactant metabolism dysfunction, pulmonary, 4
subset: gard_rare {source="GARD:15263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Csf2Ra deficiency" RELATED [OMIM:300770]
synonym: "Pap due to Csf2Ra deficiency" RELATED [OMIM:300770]
synonym: "pulmonary alveolar proteinosis, congenital, 4" RELATED [OMIM:300770]
synonym: "SMDP4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300770]
synonym: "surfactant metabolism dysfunction, pulmonary, 4" EXACT [MONDO:Lexical, OMIM:300770]
synonym: "surfactant metabolism dysfunction, pulmonary, type 4" EXACT [MONDORULE:1, OMIM:300770]
xref: GARD:15263 {source="MONDO:GARD"}
xref: MEDGEN:393858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567461 {source="MONDO:equivalentTo"}
xref: OMIM:300770 {source="MONDO:equivalentTo"}
xref: Orphanet:264675 {source="OMIM:300770"}
xref: UMLS:C2677877 {source="MEDGEN:393858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012580 {source="OMIM:300770", source="Orphanet:264675/btnt"} ! hereditary pulmonary alveolar proteinosis

[Term]
id: MONDO:0010425
name: Lisch epithelial corneal dystrophy
def: "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." [Orphanet:98955]
subset: gard_rare {source="GARD:16877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98955"}
subset: orphanet_rare {source="Orphanet:98955"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "band-shaped and whorled microcystic" EXACT [DOID:0060450]
synonym: "band-Shaped and whorled microcystic corneal epithelial dystrophy" RELATED [OMIM:300778]
synonym: "band-shaped and whorled microcystic dystrophy of the corneal epithelium" EXACT [Orphanet:98955]
synonym: "corneal dystrophy, Lisch epithelial" RELATED [MONDO:Lexical, OMIM:300778]
synonym: "corneal dystrophy, Lisch epithelial, X-linked dominant" EXACT [OMIM:300778, OMIM:genemap2]
synonym: "LECD" EXACT ABBREVIATION [DOID:0060450, MONDO:Lexical, OMIM:300778, Orphanet:98955]
synonym: "Lisch epithelial corneal dystrophy" EXACT [OMIM:300778]
xref: DOID:0060450 {source="MONDO:equivalentTo"}
xref: GARD:16877 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="DOID:0060450", source="Orphanet:98955", source="Orphanet:98955/attributed", source="Orphanet:98955/ntbt"}
xref: MEDGEN:411737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567588 {source="DOID:0060450", source="MONDO:equivalentTo"}
xref: OMIM:300778 {source="DOID:0060450", source="MONDO:equivalentObsolete", source="Orphanet:98955", source="Orphanet:98955/e"}
xref: OMIM:620763 {source="MONDO:equivalentTo"}
xref: Orphanet:98955 {source="DOID:0060450", source="MONDO:equivalentTo", source="OMIM:300778"}
xref: SCTID:724175002 {source="MONDO:equivalentTo"}
xref: UMLS:C2749050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411737"}
is_a: MONDO:0000763 {source="DOID:0060450"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0020212 {source="Orphanet:98955"} ! superficial corneal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010426
name: X-linked endothelial corneal dystrophy
def: "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." [Orphanet:293621]
subset: gard_rare {source="GARD:17339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293621"}
subset: orphanet_rare {source="Orphanet:293621"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy, endothelial, X-linked" RELATED [MONDO:Lexical, OMIM:300779]
synonym: "corneal dystrophy, endothelial, X-linked, X-linked dominant" EXACT [OMIM:300779, OMIM:genemap2]
synonym: "endothelial corneal dystrophy, X-linked" RELATED [OMIM:300779]
synonym: "XECD" EXACT ABBREVIATION [DOID:0060446, MONDO:Lexical, OMIM:300779, Orphanet:293621]
xref: DOID:0060446 {source="MONDO:equivalentTo"}
xref: GARD:17339 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="DOID:0060446", source="Orphanet:293621", source="Orphanet:293621/attributed", source="Orphanet:293621/ntbt"}
xref: MEDGEN:413518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567587 {source="DOID:0060446", source="MONDO:equivalentTo"}
xref: OMIM:300779 {source="Orphanet:293621/e", source="DOID:0060446", source="MONDO:equivalentTo", source="Orphanet:293621"}
xref: Orphanet:293621 {source="DOID:0060446", source="MONDO:equivalentTo", source="OMIM:300779"}
xref: SCTID:718579008 {source="MONDO:equivalentTo"}
xref: UMLS:C2749049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413518"}
is_a: MONDO:0000766 {source="DOID:0060446"} ! corneal endothelial dystrophy
is_a: MONDO:0020214 {source="Orphanet:293621"} ! posterior corneal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010427
name: syndromic X-linked intellectual disability Raymond type
def: "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1." [DOID:0060824, PMID:17436253, PMID:19377476]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, X-linked syndromic, Raymond type" EXACT [DOID:0060824]
synonym: "intellectual disability, X-linked, syndromic, Raymond type" RELATED [MONDO:Lexical, OMIM:300799]
synonym: "mental retardation, X-linked syndromic, Raymond type" EXACT DEPRECATED [DOID:0060824]
synonym: "mental retardation, X-linked, syndromic, Raymond type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300799]
synonym: "MRXSR" EXACT ABBREVIATION [DOID:0060824, MONDO:Lexical, OMIM:300799]
synonym: "syndromic X-linked intellectual disability Raymond type" EXACT CLINGEN_LABEL []
xref: DOID:0060824 {source="MONDO:equivalentTo"}
xref: GARD:15264 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060824"}
xref: MEDGEN:477037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300799 {source="MONDO:equivalentTo", source="DOID:0060824"}
xref: Orphanet:163953 {source="DOID:0060824", source="OMIM:300799"}
xref: UMLS:C3275406 {source="MEDGEN:477037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="DC-OMIM:300799", source="DOID:0060824", source="OMIM:300799", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18475 {source="MONDO:mim2gene_medgen"} ! ZDHHC9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010428
name: chromosome Xp11.23-p11.22 duplication syndrome
def: "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." [Orphanet:217377]
subset: gard_rare {source="GARD:12766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217377"}
subset: ordo_malformation_syndrome {source="Orphanet:217377"}
subset: orphanet_rare {source="Orphanet:217377"}
subset: rare
synonym: "chromosome Xp11.23-p11.22 duplication syndrome" EXACT [OMIM:300801]
synonym: "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant" EXACT [OMIM:300801, OMIM:genemap2]
synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [DOID:0060461]
synonym: "trisomy Xp11.22-p11.23" EXACT [DOID:0060461, Orphanet:217377]
synonym: "Xp11.22-p11.23 Microduplication" EXACT [DECIPHER:89]
xref: DECIPHER:89 {source="MONDO:equivalentTo"}
xref: DOID:0060461 {source="MONDO:equivalentTo"}
xref: GARD:12766 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="DOID:0060461", source="Orphanet:217377/attributed", source="Orphanet:217377/ntbt", source="Orphanet:217377"}
xref: MEDGEN:440690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567585 {source="MONDO:equivalentTo"}
xref: OMIM:300801 {source="DOID:0060461", source="Orphanet:217377/e", source="MONDO:equivalentTo", source="Orphanet:217377"}
xref: Orphanet:217377 {source="DOID:0060461", source="MONDO:equivalentTo", source="OMIM:300801"}
xref: SCTID:721881008 {source="MONDO:equivalentTo"}
xref: UMLS:C2749022 {source="MEDGEN:440690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DC-OMIM:300801", source="DOID:0060461", source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0015159 {source="Orphanet:217377"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017009 {source="Orphanet:217377"} ! partial duplication of the short arm of chromosome X
relationship: disease_arises_from_structure CHR:9606-chrXp11.23-p11.22 {source="https://orcid.org/0000-0002-4142-7153"} ! Xp11.23-p11.22 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217377", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010429
name: intellectual disability, X-linked 96
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 96, X-linked recessive" EXACT [OMIM:300802, OMIM:genemap2]
synonym: "intellectual disability, X-linked 96" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300802]
synonym: "intellectual disability, X-linked type 96" EXACT [MONDORULE:2, OMIM:300802]
synonym: "mental retardation, X-linked 96" RELATED DEPRECATED [MONDO:Lexical, OMIM:300802]
synonym: "mental retardation, X-linked type 96" EXACT DEPRECATED [MONDORULE:2, OMIM:300802]
synonym: "MRX96" RELATED DEPRECATED [MONDO:Lexical, OMIM:300802]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in SYP" EXACT [MONDO:design_pattern]
synonym: "SYP non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112035 {source="MONDO:equivalentTo"}
xref: GARD:22685 {source="MONDO:GARD"}
xref: MEDGEN:477039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300802 {source="MONDO:equivalentTo"}
xref: UMLS:C3275408 {source="MEDGEN:477039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300802", source="MONDO:Redundant", source="OMIM:300802"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11506 ! SYP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11506 {source="MONDO:mim2gene_medgen"} ! SYP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010430
name: intellectual disability, X-linked 97
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22686", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 97" EXACT [OMIM:300803, OMIM:genemap2]
synonym: "intellectual disability, X-linked 65" RELATED [OMIM:300803]
synonym: "intellectual disability, X-linked 97" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300803]
synonym: "intellectual disability, X-linked type 97" EXACT [MONDORULE:2, OMIM:300803]
synonym: "mental retardation, X-linked 65" RELATED DEPRECATED [OMIM:300803]
synonym: "mental retardation, X-linked 97" RELATED DEPRECATED [MONDO:Lexical, OMIM:300803]
synonym: "mental retardation, X-linked type 97" EXACT DEPRECATED [MONDORULE:2, OMIM:300803]
synonym: "MRX97" RELATED DEPRECATED [MONDO:Lexical, OMIM:300803]
synonym: "Mrxz" RELATED [OMIM:300803]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF711" EXACT [MONDO:design_pattern]
synonym: "ZNF711 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112046 {source="MONDO:equivalentTo"}
xref: GARD:22686 {source="MONDO:GARD"}
xref: MEDGEN:440689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567583 {source="MONDO:equivalentTo"}
xref: OMIM:300803 {source="MONDO:equivalentTo"}
xref: UMLS:C2749020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440689"}
is_a: MONDO:0019181 {source="DC-OMIM:300803", source="MONDO:Redundant", source="OMIM:300803"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13128 ! ZNF711
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13128 {source="MONDO:mim2gene_medgen"} ! ZNF711
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010431
name: Joubert syndrome 10
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15265", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS10" EXACT ABBREVIATION [DOID:0110981, MONDO:Lexical, OMIM:300804]
synonym: "Joubert syndrome 10" EXACT [MONDO:Lexical, OMIM:300804]
synonym: "Joubert syndrome 10, X-linked recessive" EXACT [OMIM:300804, OMIM:genemap2]
synonym: "Joubert syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 10" EXACT [DOID:0110981, MONDORULE:2, OMIM:300804]
synonym: "OFD1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110981 {source="MONDO:equivalentTo"}
xref: GARD:15265 {source="MONDO:GARD"}
xref: MEDGEN:440688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567582 {source="MONDO:equivalentTo"}
xref: OMIM:300804 {source="MONDO:equivalentTo", source="DOID:0110981"}
xref: Orphanet:2754 {source="OMIM:300804"}
xref: UMLS:C2749019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440688"}
is_a: MONDO:0018772 {source="DOID:0110981", source="MONDO:Redundant", source="OMIM:300804"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 ! OFD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 {source="MONDO:mim2gene_medgen"} ! OFD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010432
name: thrombophilia, X-linked, due to factor 9 defect
def: "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)." [https://orcid.org/0000-0003-4062-6158, OMIM:300807]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deep Venous thrombosis, protection against" RELATED [OMIM:300807]
synonym: "deep venous thrombosis, protection against, X-linked recessive" EXACT [OMIM:300807, OMIM:genemap2]
synonym: "THPH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300807]
synonym: "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive" EXACT [OMIM:300807, OMIM:genemap2]
synonym: "thrombophilia, X-linked, due to factor 9 defect" EXACT CLINGEN_LABEL []
synonym: "thrombophilia, X-linked, due to factor IX defect" EXACT [https://orcid.org/0000-0003-4062-6158, MONDO:Lexical, OMIM:300807]
xref: DOID:0111899 {source="MONDO:equivalentTo"}
xref: MEDGEN:411730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567581 {source="MONDO:equivalentTo"}
xref: OMIM:300807 {source="MONDO:equivalentTo"}
xref: UMLS:C2749016 {source="MEDGEN:411730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C567581/inferred", source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0100240 {source="DC-OMIM:300807", source="MESH:C567581", source="OMIM:300807"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3551 {source="MONDO:mim2gene_medgen"} ! F9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010433
name: systemic lupus erythematosus, susceptibility to, 15
subset: predisposition
synonym: "SLEB15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300809]
synonym: "systemic lupus erythematosus, susceptibility to, 15" EXACT [MONDO:Lexical, OMIM:300809]
xref: MEDGEN:440686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300809 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:300809"}
xref: UMLS:C2749008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440686"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0010434
name: synovial sarcoma
def: "Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name)." [Orphanet:3273]
comment: Synovial sarcomas are not necessarily of synovial origin.
subset: gard_rare {source="GARD:7721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3273"}
subset: orphanet_rare {source="Orphanet:3273"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sarcoma, synovial" RELATED [OMIM:300813]
synonym: "sarcoma, synovial, malignant" EXACT [NCIT:C3400]
synonym: "SS" BROAD ABBREVIATION [NCIT:C3400]
synonym: "synovial sarcoma" EXACT [MONDO:ambiguous, NCIT:C3400]
synonym: "synovial sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "synovial sarcoma, NOS" RELATED EXCLUDE [NCIT:C3400]
synonym: "synovial sarcoma, not otherwise specified" RELATED EXCLUDE [NCIT:C3400]
synonym: "Synovialosarcoma" EXACT [Orphanet:3273]
xref: DOID:5485 {source="EFO:0001376", source="MONDO:equivalentTo"}
xref: EFO:0001376 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7721 {source="MONDO:GARD"}
xref: HP:0012570 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C49.9 {source="Orphanet:3273/ntbt", source="Orphanet:3273"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9040/3 {source="NCIT:C3400"}
xref: MedDRA:10042863 {source="Orphanet:3273/e", source="Orphanet:3273"}
xref: MEDGEN:21050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013584 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"}
xref: NANDO:2200061 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3400 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"}
xref: OMIM:300813 {source="Orphanet:3273/e", source="EFO:0001376", source="MONDO:equivalentTo", source="Orphanet:3273", source="DOID:5485"}
xref: ONCOTREE:SYNS {source="MONDO:equivalentTo"}
xref: Orphanet:3273 {source="MONDO:equivalentTo", source="OMIM:300813"}
xref: SCTID:302851001 {source="EFO:0001376", source="MONDO:equivalentTo", source="DOID:5485"}
xref: SCTID:63211008 {source="EFO:0001376", source="DOID:5485"}
xref: UMLS:C0039101 {source="MEDGEN:21050", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DC-OMIM:300813", source="EFO:0001376", source="MESH:D013584", source="MONDO:Redundant", source="NCIT:C3400/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C3400", source="Orphanet:3273"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0002403 {source="DOID:5485", source="https://orcid.org/0000-0001-5208-3432"} ! synovium cancer
property_value: IAO:0000589 "synovial sarcoma (disease)" xsd:string

[Term]
id: MONDO:0010435
name: nystagmus 6, congenital, X-linked
subset: otar {source="MONDO:OTAR"}
synonym: "NYS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300814]
synonym: "NYSTAGMUS 6, congenital, X-linked" RELATED [OMIM:300814]
synonym: "nystagmus 6, congenital, X-linked" EXACT [MONDO:Lexical, OMIM:300814]
synonym: "nystagmus 6, congenital, X-linked, X-linked recessive" EXACT [OMIM:300814, OMIM:genemap2]
xref: DOID:0111795 {source="MONDO:equivalentTo"}
xref: MEDGEN:463102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300814 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:300814"}
xref: UMLS:C3151752 {source="MEDGEN:463102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005712 {source="DC-OMIM:300814", source="OMIM:300814"} ! congenital nystagmus
is_a: MONDO:0700230 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! GPR143-related foveal hypoplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 {source="MONDO:mim2gene_medgen"} ! GPR143
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0010436
name: chromosome Xq28 duplication syndrome
subset: gard_rare {source="GARD:15266", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome Xq28 duplication syndrome" EXACT [OMIM:300815]
xref: GARD:15266 {source="MONDO:GARD"}
xref: MEDGEN:411727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567580 {source="MONDO:equivalentTo"}
xref: OMIM:300815 {source="MONDO:equivalentTo"}
xref: Orphanet:1762 {source="OMIM:300815"}
xref: UMLS:C2749007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411727"}
is_a: MONDO:0000762 {source="DC-OMIM:300815"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0010283 {source="Orphanet:1762/btnt"} ! syndromic X-linked intellectual disability Lubs type
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chrXq28 ! Xq28 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0010437
name: severe X-linked mitochondrial encephalomyopathy
def: "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." [Orphanet:238329]
subset: gard_rare {source="GARD:17171", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238329"}
subset: orphanet_rare {source="Orphanet:238329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 6" RELATED [MONDO:Lexical, OMIM:300816]
synonym: "combined oxidative phosphorylation deficiency 6, X-linked recessive" EXACT [OMIM:300816, OMIM:genemap2]
synonym: "combined oxidative phosphorylation deficiency type 6" EXACT [MONDORULE:1, OMIM:300816]
synonym: "COXPD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300816]
synonym: "encephalomyopathy, mitochondrial, X-linked" RELATED [OMIM:300816]
synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [Orphanet:238329]
synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [Orphanet:238329]
xref: DOID:0111502 {source="MONDO:equivalentTo"}
xref: GARD:17171 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:238329/attributed", source="Orphanet:238329/ntbt", source="Orphanet:238329"}
xref: MEDGEN:463103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300816 {source="Orphanet:238329", source="MONDO:equivalentTo", source="Orphanet:238329/e"}
xref: Orphanet:238329 {source="OMIM:300816", source="MONDO:equivalentTo"}
xref: SCTID:722212004 {source="MONDO:equivalentTo"}
xref: UMLS:C3151753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463103"}
is_a: MONDO:0000732 {source="DC-OMIM:300816", source="OMIM:300816"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010438
name: paroxysmal nocturnal hemoglobinuria 1
def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paroxysmal nocturnal hemoglobinuria 1" EXACT [MONDO:Lexical, OMIM:300818]
synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA" EXACT []
synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA" EXACT [MONDO:design_pattern]
synonym: "paroxysmal nocturnal hemoglobinuria type 1" EXACT [MONDORULE:1, OMIM:300818]
synonym: "paroxysmal nocturnal hemoglobinuria, somatic" EXACT [OMIM:300818, OMIM:genemap2]
synonym: "PIGA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "pIgA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern]
synonym: "PNH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300818]
xref: MEDGEN:813000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300818 {source="MONDO:equivalentTo"}
xref: Orphanet:447 {source="OMIM:300818"}
xref: UMLS:C3806670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813000"}
is_a: MONDO:0100244 {source="DC-OMIM:300818", source="MONDO:Redundant", source="OMIM:300818"} ! paroxysmal nocturnal hemoglobinuria
intersection_of: MONDO:0100244 ! paroxysmal nocturnal hemoglobinuria
intersection_of: RO:0004004 http://identifiers.org/hgnc/8957 ! has material basis in somatic mutation in PIGA
relationship: RO:0004004 http://identifiers.org/hgnc/8957 {source="MONDO:mim2gene_medgen"} ! has material basis in somatic mutation in PIGA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010439
name: cardiomyopathy, fatal fetal, due to myocardial calcification
synonym: "cardiomyopathy, fatal fetal, due to myocardial calcification" EXACT [OMIM:300829]
synonym: "myocardial calcifications resulting in intrauterine fetal death" RELATED [GARD:0008311]
synonym: "myocardial calcifications resulting in intrauterine foetal death" RELATED OMO:0003005 []
xref: MEDGEN:340013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C543241 {source="MONDO:equivalentTo"}
xref: OMIM:300829 {source="MONDO:equivalentTo"}
xref: OMIM:606163 {source="MONDO:equivalentObsolete", source="GARD:0008311"}
xref: UMLS:C1853577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340013"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8311/cardiomyopathy-fatal-fetal-due-to-myocardial-calcification" xsd:anyURI {source="GARD:0008311"}

[Term]
id: MONDO:0010440
name: autism, susceptibility to, X-linked 4
subset: predisposition
synonym: "autism, susceptibility to, X-linked 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300830]
synonym: "autism, susceptibility to, X-linked 4, X-linked recessive" EXACT [OMIM:300830, OMIM:genemap2]
synonym: "autism, susceptibility to, X-linked type 4" EXACT [MONDORULE:1, OMIM:300830]
synonym: "AUTSX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300830]
synonym: "chromosome Xp22 deletion syndrome" RELATED [OMIM:300830]
synonym: "susceptibility to autism, X-linked" RELATED [GARD:0003775]
synonym: "susceptibility to X-linked autism 4" RELATED [OMIM:300830]
synonym: "X-linked susceptibility to autism-4" RELATED [GARD:0003775]
xref: MEDGEN:162886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300830 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:300830"}
xref: UMLS:C0795888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162886"}
is_a: MONDO:0020836 {source="OMIM:300830"} ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3775/x-linked-susceptibility-to-autism-4" xsd:anyURI {source="GARD:0003775"}

[Term]
id: MONDO:0010441
name: CK syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251383"}
subset: ordo_malformation_syndrome {source="Orphanet:251383"}
subset: orphanet_rare {source="Orphanet:251383"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CK syndrome" EXACT CLINGEN_LABEL [OMIM:300831]
synonym: "CK syndrome, X-linked recessive" EXACT [OMIM:300831, OMIM:genemap2]
synonym: "intellectual disability, X-linked, with thin body habitus and cortical malformation" RELATED [OMIM:300831]
synonym: "mental retardation, X-linked, with thin body habitus and cortical malformation" RELATED DEPRECATED [OMIM:300831]
synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [Orphanet:251383]
xref: DOID:0111898 {source="MONDO:equivalentTo"}
xref: GARD:17210 {source="MONDO:GARD"}
xref: MEDGEN:463131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300831 {source="Orphanet:251383", source="MONDO:equivalentTo", source="Orphanet:251383/e"}
xref: Orphanet:251383 {source="MONDO:equivalentTo", source="OMIM:300831"}
xref: UMLS:C3151781 {source="MEDGEN:463131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="Orphanet:251383", source="Orphanet:251383/inferred", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:251383", source="Orphanet:251383/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13398 {source="MONDO:mim2gene_medgen"} ! NSDHL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010442
name: 46,XX sex reversal 3
subset: gard_rare {source="GARD:15267", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XX SEX reversal 3" RELATED [OMIM:300833]
synonym: "46,XX sex reversal 3" EXACT [MONDO:Lexical, OMIM:300833]
synonym: "46,XX Sex reversal type 3" EXACT [MONDORULE:1, OMIM:300833]
synonym: "46,XX Sex reversal, Sox3-related" RELATED [OMIM:300833]
synonym: "46XX sex reversal 3, X-linked dominant" EXACT [OMIM:300833, OMIM:genemap2]
synonym: "chromosome Xq26 deletion syndrome" RELATED [OMIM:300833]
synonym: "chromosome Xq26 Duplication syndrome" RELATED [OMIM:300833]
synonym: "SRXX3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300833]
xref: DOID:0111762 {source="MONDO:equivalentTo"}
xref: GARD:15267 {source="MONDO:GARD"}
xref: MEDGEN:463132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300833 {source="MONDO:equivalentTo"}
xref: Orphanet:393 {source="OMIM:300833"}
xref: UMLS:C3151782 {source="MEDGEN:463132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100249 {source="Orphanet:393/btnt"} ! 46,XX testicular disorder of sex development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010443
name: macular degeneration, X-linked atrophic
subset: gard_rare {source="GARD:15268", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "macular degeneration, X-linked atrophic" EXACT [OMIM:300834]
synonym: "macular degeneration, X-linked atrophic, X-linked recessive" EXACT [OMIM:300834, OMIM:genemap2]
xref: DOID:0112157 {source="MONDO:equivalentTo"}
xref: GARD:15268 {source="MONDO:GARD"}
xref: MEDGEN:463134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300834 {source="MONDO:equivalentTo"}
xref: UMLS:C3151784 {source="MONDO:equivalentTo", source="MEDGEN:463134", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 ! cone-rod dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 {source="MONDO:mim2gene_medgen"} ! RPGR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010444
name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
subset: gard_rare {source="GARD:17574", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363727"}
subset: orphanet_rare {source="Orphanet:363727"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, X-linked, with or without neutropenia and/or platelet abnormalities" RELATED [MONDO:Lexical, OMIM:300835]
synonym: "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive" EXACT [OMIM:300835, OMIM:genemap2]
synonym: "XLANP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300835]
xref: DOID:0112156 {source="MONDO:equivalentTo"}
xref: GARD:17574 {source="MONDO:GARD"}
xref: ICD10CM:D64.4 {source="Orphanet:363727/attributed", source="Orphanet:363727/ntbt", source="Orphanet:363727"}
xref: MEDGEN:763770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300835 {source="Orphanet:363727/e", source="MONDO:equivalentTo", source="Orphanet:363727"}
xref: Orphanet:363727 {source="MONDO:equivalentTo", source="OMIM:300835"}
xref: UMLS:C3550856 {source="MEDGEN:763770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019403 {source="Orphanet:363727"} ! congenital dyserythropoietic anemia
is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4170 {source="MONDO:mim2gene_medgen"} ! GATA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010445
name: obsolete McLeod syndrome
is_obsolete: true
replaced_by: MONDO:0018945

[Term]
id: MONDO:0010446
name: X-linked cone dysfunction syndrome with myopia
def: "X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." [Orphanet:90001]
subset: gard_rare {source="GARD:16782", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90001"}
subset: orphanet_rare {source="Orphanet:90001"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bed" RELATED [MONDO:Lexical, OMIM:300843]
synonym: "BORNHOLM eye disease" RELATED [MONDO:Lexical, OMIM:300843]
synonym: "Bornholm eye disease" EXACT [Orphanet:90001]
synonym: "Bornholm eye disease, X-linked recessive" EXACT [OMIM:300843, OMIM:genemap2]
synonym: "myopia, high, with nonprogressive cone dysfunction" RELATED [OMIM:300843]
xref: GARD:16782 {source="MONDO:GARD"}
xref: ICD10CM:H53.8 {source="Orphanet:90001", source="Orphanet:90001/attributed", source="Orphanet:90001/ntbt"}
xref: MEDGEN:463611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564092 {source="MONDO:equivalentTo"}
xref: OMIM:300843 {source="MONDO:equivalentTo", source="Orphanet:90001", source="Orphanet:90001/e"}
xref: Orphanet:90001 {source="MONDO:equivalentTo", source="OMIM:300843"}
xref: SCTID:718718009 {source="MONDO:equivalentTo"}
xref: UMLS:C3159311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463611"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010447
name: intellectual disability, X-linked 19
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 19, X-linked dominant" EXACT [OMIM:300844, OMIM:genemap2]
synonym: "intellectual disability, X-linked 19" EXACT [MONDO:Lexical, OMIM:300844]
synonym: "intellectual disability, X-linked type 19" EXACT [MONDORULE:2, OMIM:300844]
synonym: "mental retardation, X-linked 19" RELATED DEPRECATED [MONDO:Lexical, OMIM:300844]
synonym: "mental retardation, X-linked type 19" EXACT DEPRECATED [MONDORULE:2, OMIM:300844]
synonym: "MRX19" RELATED DEPRECATED [MONDO:Lexical, OMIM:300844]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3" EXACT [MONDO:design_pattern]
synonym: "RPS6KA3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112019 {source="MONDO:equivalentTo"}
xref: GARD:22687 {source="MONDO:GARD"}
xref: MEDGEN:208676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563141 {source="MONDO:equivalentTo"}
xref: OMIM:300844 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300844"}
xref: UMLS:C0796225 {source="MEDGEN:208676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300844", source="MONDO:Redundant", source="OMIM:300844"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10432 ! RPS6KA3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10432 {source="MONDO:mim2gene_medgen"} ! RPS6KA3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010448
name: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
def: "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." [Orphanet:280679]
subset: gard_rare {source="GARD:17301", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280679"}
subset: orphanet_rare {source="Orphanet:280679"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome Xq28 deletion syndrome, 3.4-Kb" RELATED [OMIM:300845]
synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:300845]
synonym: "moyamoya disease 4, X-linked recessive" EXACT [OMIM:300845, OMIM:genemap2]
synonym: "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism" EXACT [Orphanet:280679]
synonym: "MYMY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300845]
synonym: "syndromic Moyamoya disease" RELATED [OMIM:300845]
xref: GARD:17301 {source="MONDO:GARD"}
xref: MEDGEN:463207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300845 {source="Orphanet:280679", source="MONDO:equivalentTo", source="Orphanet:280679/e"}
xref: Orphanet:280679 {source="MONDO:equivalentTo", source="OMIM:300845"}
xref: UMLS:C3151857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463207"}
is_a: MONDO:0015160 {source="Orphanet:280679"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016820 {source="DC-OMIM:300845", source="OMIM:300845"} ! Moyamoya disease
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:280679", source="Orphanet:280679/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906", source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010449
name: autism, susceptibility to, X-linked 5
subset: predisposition
synonym: "autism, susceptibility to, X-linked 5" EXACT [MONDO:Lexical, OMIM:300847]
synonym: "autism, susceptibility to, X-linked type 5" EXACT [MONDORULE:1, OMIM:300847]
synonym: "AUTSX5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300847]
synonym: "susceptibility to X-linked autism 5" RELATED [OMIM:300847]
xref: MEDGEN:477069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300847 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:300847"}
xref: UMLS:C3275438 {source="MEDGEN:477069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 {source="OMIM:300847"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10298 ! RPL10
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10298 {source="MONDO:mim2gene_medgen"} ! RPL10

[Term]
id: MONDO:0010450
name: intellectual disability, X-linked 89
subset: gard_rare {source="GARD:22688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 89" EXACT [MONDO:Lexical, OMIM:300848]
synonym: "mental retardation, X-linked 89" RELATED DEPRECATED [MONDO:Lexical, OMIM:300848]
synonym: "mental retardation, X-linked 89, X-linked dominant" EXACT [OMIM:300848, OMIM:genemap2]
synonym: "MRX89" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300848]
xref: DOID:0112031 {source="MONDO:equivalentTo"}
xref: GARD:22688 {source="MONDO:GARD"}
xref: MEDGEN:333247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564036 {source="MONDO:equivalentTo"}
xref: OMIM:300848 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300848"}
xref: UMLS:C1839082 {source="MEDGEN:333247", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300848", source="OMIM:300848"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010451
name: intellectual disability, X-linked 41
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDI1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, X-linked 41, X-linked dominant" EXACT [OMIM:300849, OMIM:genemap2]
synonym: "intellectual disability, X-linked 41" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300849]
synonym: "intellectual disability, X-linked 48" RELATED [OMIM:300849]
synonym: "intellectual disability, X-linked type 41" EXACT [MONDORULE:2, OMIM:300849]
synonym: "mental retardation, X-linked 41" RELATED DEPRECATED [MONDO:Lexical, OMIM:300849]
synonym: "mental retardation, X-linked 48" RELATED DEPRECATED [OMIM:300849]
synonym: "mental retardation, X-linked type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:300849]
synonym: "MRX41" RELATED DEPRECATED [MONDO:Lexical, OMIM:300849]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in GDI1" EXACT [MONDO:design_pattern]
xref: DOID:0112058 {source="MONDO:equivalentTo"}
xref: GARD:22689 {source="MONDO:GARD"}
xref: MEDGEN:854647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300849 {source="MONDO:equivalentTo"}
xref: UMLS:C3887939 {source="MEDGEN:854647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300849", source="MONDO:Redundant", source="OMIM:300849"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4226 ! GDI1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4226 {source="MONDO:mim2gene_medgen"} ! GDI1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010452
name: intellectual disability, X-linked 90
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DLG3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, X-linked 90, X-linked recessive" EXACT [OMIM:300850, OMIM:genemap2]
synonym: "intellectual disability, X-linked 90" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300850]
synonym: "intellectual disability, X-linked type 90" EXACT [MONDORULE:2, OMIM:300850]
synonym: "mental retardation, X-linked 90" RELATED DEPRECATED [MONDO:Lexical, OMIM:300850]
synonym: "mental retardation, X-linked type 90" EXACT DEPRECATED [MONDORULE:2, OMIM:300850]
synonym: "MRX90" RELATED DEPRECATED [MONDO:Lexical, OMIM:300850]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in DLG3" EXACT [MONDO:design_pattern]
xref: DOID:0112041 {source="MONDO:equivalentTo"}
xref: GARD:22690 {source="MONDO:GARD"}
xref: MEDGEN:477074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300850 {source="MONDO:equivalentTo"}
xref: UMLS:C3275443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477074"}
is_a: MONDO:0019181 {source="DC-OMIM:300850", source="MONDO:Redundant", source="OMIM:300850"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2902 ! DLG3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2902 {source="MONDO:mim2gene_medgen"} ! DLG3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010453
name: intellectual disability, X-linked 92
subset: gard_rare {source="GARD:22691", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 92" EXACT [MONDO:Lexical, OMIM:300851]
synonym: "mental retardation, X-linked 92" RELATED DEPRECATED [MONDO:Lexical, OMIM:300851]
synonym: "mental retardation, X-linked 92, X-linked recessive" EXACT [OMIM:300851, OMIM:genemap2]
synonym: "MRX92" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300851]
xref: DOID:0112032 {source="MONDO:equivalentTo"}
xref: GARD:22691 {source="MONDO:GARD"}
xref: MEDGEN:335109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564483 {source="MONDO:equivalentTo"}
xref: OMIM:300851 {source="MONDO:equivalentTo"}
xref: UMLS:C1845144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335109"}
is_a: MONDO:0019181 {source="DC-OMIM:300851", source="OMIM:300851"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010454
name: intellectual disability, X-linked 88
subset: gard_rare {source="GARD:22692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 88" EXACT [MONDO:Lexical, OMIM:300852]
synonym: "intellectual disability, XMEN-linked 88" EXACT MISSPELLING []
synonym: "mental retardation, X-linked 88" EXACT DEPRECATED [MONDO:Lexical, OMIM:300852]
synonym: "MRX88" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300852]
xref: DOID:0112053 {source="MONDO:equivalentTo"}
xref: GARD:22692 {source="MONDO:GARD"}
xref: MEDGEN:477075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300852 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:300852"}
xref: UMLS:C3275444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477075"}
is_a: MONDO:0019181 {source="DC-OMIM:300852", source="OMIM:300852"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4677" xsd:anyURI

[Term]
id: MONDO:0010455
name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
def: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias." [Orphanet:317476]
subset: gard_rare {source="GARD:10907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:317476"}
subset: orphanet_rare {source="Orphanet:317476"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cid due to MAGT1 deficiency" EXACT [Orphanet:317476]
synonym: "combined immunodeficiency due to MAGT1 deficiency" EXACT [Orphanet:317476]
synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive" EXACT [OMIM:300853, OMIM:genemap2]
synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia" RELATED [MONDO:Lexical, OMIM:300853]
synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" EXACT CLINGEN_LABEL []
synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" RELATED [DOID:0080319]
synonym: "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia" RELATED [GARD:0010907]
synonym: "XMEN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300853, Orphanet:317476]
xref: DOID:0080319 {source="MONDO:equivalentTo"}
xref: GARD:10907 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:317476/attributed", source="Orphanet:317476/ntbt", source="Orphanet:317476"}
xref: MEDGEN:477076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126336 {source="MONDO:equivalentTo"}
xref: OMIM:300853 {source="Orphanet:317476/e", source="MONDO:equivalentTo", source="Orphanet:317476"}
xref: Orphanet:317476 {source="MONDO:equivalentTo", source="OMIM:300853"}
xref: SCTID:711481001 {source="MONDO:equivalentTo"}
xref: UMLS:C3275445 {source="MEDGEN:477076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:317476", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28880 {source="MONDO:mim2gene_medgen"} ! MAGT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010456
name: renal cell carcinoma, Xp11-associated
subset: gard_rare {source="GARD:18445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RCCX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300854]
synonym: "renal cell carcinoma, papillary, 1" EXACT [OMIM:300854, OMIM:genemap2]
synonym: "renal cell carcinoma, Xp11-associated" EXACT [MONDO:Lexical, OMIM:300854]
xref: GARD:18445 {source="MONDO:GARD"}
xref: MEDGEN:477077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300854 {source="MONDO:equivalentTo"}
xref: Orphanet:319308 {source="OMIM:300854"}
xref: UMLS:C3275446 {source="MEDGEN:477077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017886 {source="Orphanet:319308/btnt"} ! MIT family translocation renal cell carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11752 {source="MONDO:mim2gene_medgen"} ! TFE3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010457
name: Ogden syndrome
def: "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." [Orphanet:276432]
comment: Editor note: check GARD
subset: gard_rare {source="GARD:17281", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276432"}
subset: ordo_malformation_syndrome {source="Orphanet:276432"}
subset: orphanet_rare {source="Orphanet:276432"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acetyl-CoA:arylamine n-acetyltransferase" RELATED [GARD:0000188]
synonym: "arylamine n-acetyltransferase 1" RELATED [GARD:0000188]
synonym: "N acetyltransferase 1 deficiency" RELATED [GARD:0000188]
synonym: "N acetyltransferase deficiency" RELATED [GARD:0000188]
synonym: "N-alpha-acetyltransferase" EXACT [DOID:0050781]
synonym: "N-terminal acetyltransferase deficiency" EXACT [DOID:0050781, OMIM:300855]
synonym: "NAT1 deficiency" RELATED [GARD:0000188]
synonym: "Ogden syndrome" EXACT [MONDO:Lexical, OMIM:300855, Orphanet:276432]
synonym: "Ogden syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300855, OMIM:genemap2]
synonym: "OGDNS" EXACT ABBREVIATION [DOID:0050781, MONDO:Lexical, OMIM:300855]
synonym: "premature ageing appearance-developmental delay-cardiac arrhythmia syndrome" EXACT OMO:0003005 []
synonym: "premature aging appearance-developmental delay-cardiac arrhythmia syndrome" EXACT [Orphanet:276432]
synonym: "X-linked malformation and infantile lethality syndrome" EXACT [DOID:0050781]
xref: DOID:0050781 {source="MONDO:equivalentTo"}
xref: GARD:17281 {source="MONDO:GARD"}
xref: HGNC:7645 {source="GARD:0000188"}
xref: MEDGEN:477078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536107 {source="MONDO:equivalentTo"}
xref: NCIT:C188215 {source="MONDO:equivalentTo"}
xref: OMIM:300855 {source="DOID:0050781", source="Orphanet:276432", source="MONDO:equivalentTo", source="Orphanet:276432/e"}
xref: Orphanet:276432 {source="MONDO:equivalentTo", source="OMIM:300855"}
xref: UMLS:C3275447 {source="MEDGEN:477078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="DOID:0050781"} ! X-linked disease
is_a: MONDO:0015333 {source="Orphanet:276432", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
is_a: MONDO:0021147 {source="Orphanet:276432", source="Orphanet:276432/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10-related syndrome
relationship: disease_has_basis_in_disruption_of GO:0008080 ! N-acetyltransferase activity
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18704 {source="MONDO:mim2gene_medgen"} ! NAA10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010458
name: hypospadias 4, X-linked
subset: gard_rare {source="GARD:18187", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypospadias 4, X-linked, susceptibility to" RELATED [MONDO:Lexical, OMIM:300856]
synonym: "HYSP4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300856]
xref: GARD:18187 {source="MONDO:GARD"}
xref: MEDGEN:477089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300856 {source="MONDO:equivalentTo"}
xref: Orphanet:440 {source="OMIM:300856"}
xref: UMLS:C3275458 {source="MEDGEN:477089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005345 {source="DC-OMIM:300856", source="OMIM:300856"} ! hypospadias

[Term]
id: MONDO:0010459
name: amyotrophic lateral sclerosis type 15
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15269", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALS15" EXACT ABBREVIATION [DOID:0060206, MONDO:Lexical, OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15" EXACT [DOID:0060206, OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [DOID:0060206, OMIM:300857]
synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant" EXACT [OMIM:300857, OMIM:genemap2]
synonym: "amyotrophic lateral sclerosis caused by mutation in UBQLN2" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 15" EXACT CLINGEN_LABEL []
synonym: "UBQLN2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060206 {source="MONDO:equivalentTo"}
xref: GARD:15269 {source="MONDO:GARD"}
xref: MEDGEN:477090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300857 {source="MONDO:equivalentTo", source="DOID:0060206"}
xref: Orphanet:803 {source="OMIM:300857"}
xref: UMLS:C3275459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477090"}
is_a: MONDO:0005144 {source="DOID:0060206", source="MONDO:Redundant", source="OMIM:300857"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12509 ! UBQLN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12509 {source="MONDO:mim2gene_medgen"} ! UBQLN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010460
name: syndromic X-linked intellectual disability 17
def: "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals." [Orphanet:289483]
subset: gard_rare {source="GARD:17326", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289483"}
subset: orphanet_rare {source="Orphanet:289483"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, X-linked, syndromic 17" EXACT [DOID:0060803, MONDO:Lexical, OMIM:300858]
synonym: "intellectual disability, X-linked, with alacrima and achalasia" RELATED [OMIM:300858]
synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT [DOID:0060803]
synonym: "mental retardation, X-linked, syndromic 17" EXACT DEPRECATED [DOID:0060803, MONDO:Lexical, OMIM:300858]
synonym: "mental retardation, X-linked, syndromic 17, X-linked recessive" EXACT [OMIM:300858, OMIM:genemap2]
synonym: "mental retardation, X-linked, with alacrima and achalasia" RELATED DEPRECATED [OMIM:300858]
synonym: "MRXS17" RELATED DEPRECATED [MONDO:Lexical, OMIM:300858]
synonym: "syndromic X-linked intellectual disability type 17" EXACT [DOID:0060803, MONDORULE:2]
synonym: "X-linked intellectual disability with alacrima and achalasia" EXACT [DOID:0060803]
synonym: "X-linked mental retardation with alacrima and achalasia" EXACT DEPRECATED [DOID:0060803]
xref: DOID:0060803 {source="MONDO:equivalentTo"}
xref: GARD:17326 {source="MONDO:GARD"}
xref: MEDGEN:477091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300858 {source="Orphanet:289483/e", source="MONDO:equivalentTo", source="DOID:0060803", source="Orphanet:289483"}
xref: Orphanet:289483 {source="MONDO:equivalentTo", source="DOID:0060803", source="OMIM:300858"}
xref: UMLS:C3275460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477091"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020119 {source="DC-OMIM:300858", source="DOID:0060803", source="OMIM:300858", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0010461
name: syndromic X-linked intellectual disability Nascimento type
def: "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." [Orphanet:163956]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163956"}
subset: orphanet_rare {source="Orphanet:163956"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive" EXACT [OMIM:300860, OMIM:genemap2]
synonym: "intellectual disability, X-linked syndromic, Nascimento-type" EXACT [DOID:0060820]
synonym: "intellectual disability, X-linked, syndromic 30" RELATED [OMIM:300860]
synonym: "intellectual disability, X-linked, syndromic, Nascimento type" RELATED [MONDO:Lexical, OMIM:300860]
synonym: "mental retardation, X-linked syndromic, Nascimento-type" EXACT DEPRECATED [DOID:0060820]
synonym: "mental retardation, X-linked, syndromic 30" RELATED DEPRECATED [OMIM:300860]
synonym: "mental retardation, X-linked, syndromic, Nascimento type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300860]
synonym: "MRXSN" RELATED DEPRECATED [MONDO:Lexical, OMIM:300860]
synonym: "syndromic X-linked intellectual disability Nascimento type" EXACT CLINGEN_LABEL []
synonym: "X-linked intellectual disability, Nascimento type" RELATED [Orphanet:163956]
synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [DOID:0060820, Orphanet:163956]
xref: DOID:0060820 {source="MONDO:equivalentTo"}
xref: GARD:17005 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060820", source="Orphanet:163956/attributed", source="Orphanet:163956/ntbt", source="Orphanet:163956"}
xref: MEDGEN:477095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300860 {source="Orphanet:163956/e", source="DOID:0060820", source="MONDO:equivalentTo", source="Orphanet:163956"}
xref: Orphanet:163956 {source="DOID:0060820", source="MONDO:equivalentTo", source="OMIM:300860"}
xref: UMLS:C3275464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477095"}
is_a: MONDO:0020119 {source="DC-OMIM:300860", source="DOID:0060820", source="OMIM:300860", source="Orphanet:163956", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12472 {source="MONDO:mim2gene_medgen"} ! UBE2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010462
name: syndromic X-linked intellectual disability Chudley-Schwartz type
def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23." [DOID:0060819, PMID:10398239]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked, syndromic, Chudley-Schwartz type" EXACT [DOID:0060819, MONDO:Lexical, OMIM:300861]
synonym: "intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance" RELATED [OMIM:300861]
synonym: "mental retardation, X-linked, syndromic, Chudley-Schwartz type" EXACT DEPRECATED [DOID:0060819, MONDO:Lexical, OMIM:300861]
synonym: "mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive" EXACT [OMIM:300861, OMIM:genemap2]
synonym: "mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance" RELATED DEPRECATED [OMIM:300861]
synonym: "MRXSCS" EXACT ABBREVIATION [DOID:0060819, MONDO:Lexical, OMIM:300861]
synonym: "X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance" EXACT [DOID:0060819]
synonym: "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" EXACT DEPRECATED [DOID:0060819]
xref: DOID:0060819 {source="MONDO:equivalentTo"}
xref: MEDGEN:477102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300861 {source="DOID:0060819", source="MONDO:equivalentTo"}
xref: UMLS:C3275471 {source="MEDGEN:477102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="DC-OMIM:300861", source="DOID:0060819", source="OMIM:300861", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010463
name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
def: "A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." [Orphanet:163966]
subset: gard_rare {source="GARD:17007", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163966"}
subset: orphanet_rare {source="Orphanet:163966"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" RELATED [OMIM:300863]
synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant" EXACT [OMIM:300863, OMIM:genemap2]
synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [Orphanet:163966]
xref: DOID:0112106 {source="MONDO:equivalentTo"}
xref: GARD:17007 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:163966/attributed", source="Orphanet:163966/ntbt", source="Orphanet:163966"}
xref: MEDGEN:477107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300863 {source="Orphanet:163966/e", source="MONDO:equivalentTo", source="Orphanet:163966"}
xref: Orphanet:163966 {source="MONDO:equivalentTo", source="OMIM:300863"}
xref: SCTID:719837003 {source="MONDO:equivalentTo"}
xref: UMLS:C3275476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477107"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:163966", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14064 {source="MONDO:mim2gene_medgen"} ! HDAC6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010464
name: X-linked cerebral-cerebellar-coloboma syndrome syndrome
def: "A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures." [Orphanet:163961]
subset: gard_rare {source="GARD:17006", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163961"}
subset: orphanet_rare {source="Orphanet:163961"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral-cerebellar-coloboma syndrome, X-linked" RELATED [OMIM:300864]
synonym: "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive" EXACT [OMIM:300864, OMIM:genemap2]
synonym: "X-linked cerebral-cerebellar-coloboma syndrome" RELATED [Orphanet:163961]
synonym: "X-linked intellectual disability, Kroes type" EXACT [Orphanet:163961]
xref: GARD:17006 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:163961", source="Orphanet:163961/attributed", source="Orphanet:163961/ntbt"}
xref: MEDGEN:477118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300864 {source="MONDO:equivalentTo", source="Orphanet:163961", source="Orphanet:163961/e"}
xref: Orphanet:163961 {source="MONDO:equivalentTo", source="OMIM:300864"}
xref: UMLS:C3275487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477118"}
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:163961", source="Orphanet:163961/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:163961", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010465
name: Kabuki syndrome 2
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15270", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KABUK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300867]
synonym: "KABUKI syndrome 2" RELATED [OMIM:300867]
synonym: "Kabuki syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300867]
synonym: "Kabuki syndrome 2, X-linked dominant" EXACT [OMIM:300867, OMIM:genemap2]
synonym: "Kabuki syndrome type 2" EXACT [MONDORULE:1, OMIM:300867]
xref: GARD:15270 {source="MONDO:GARD"}
xref: MEDGEN:477126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300867 {source="MONDO:equivalentTo"}
xref: Orphanet:2322 {source="OMIM:300867"}
xref: UMLS:C3275495 {source="MONDO:equivalentTo", source="MEDGEN:477126", source="MONDO:MEDGEN"}
is_a: MONDO:0016512 {source="DC-OMIM:300867", source="OMIM:300867"} ! Kabuki syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12637 {source="MONDO:mim2gene_medgen"} ! KDM6A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010466
name: multiple congenital anomalies-hypotonia-seizures syndrome 2
def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:12777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300496"}
subset: ordo_malformation_syndrome {source="Orphanet:300496"}
subset: orphanet_rare {source="Orphanet:300496"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE20" EXACT ABBREVIATION [OMIM:300868]
synonym: "developmental and epileptic encephalopathy 20" EXACT [OMIM:300868]
synonym: "epileptic encephalopathy, early infantile, 20" EXACT [OMIM:300868]
synonym: "glycosylphosphatidylinositol biosynthesis defect 4" EXACT [OMIM:300868]
synonym: "GPIBD4" EXACT ABBREVIATION [OMIM:300868]
synonym: "MCAHS type 2" EXACT [Orphanet:300496]
synonym: "MCAHS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300868]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300868]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive" EXACT [OMIM:300868, OMIM:genemap2]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 2" EXACT [DOID:0080139, MONDORULE:1, OMIM:300868]
synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" EXACT [MONDO:design_pattern]
synonym: "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0080139 {source="MONDO:equivalentTo"}
xref: GARD:12777 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:300496", source="Orphanet:300496/attributed", source="Orphanet:300496/ntbt"}
xref: MEDGEN:477139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300868 {source="Orphanet:300496", source="MONDO:equivalentTo", source="Orphanet:300496/e", source="DOID:0080139"}
xref: Orphanet:300496 {source="MONDO:equivalentTo", source="OMIM:300868"}
xref: UMLS:C3275508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477139"}
is_a: MONDO:0002254 {source="DOID:0080139"} ! syndromic disease
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017748 {source="Orphanet:300496"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0100062 {source="DC-OMIM:300868", source="OMIM:300868"} ! developmental and epileptic encephalopathy
is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:300496"} ! multiple congenital anomalies-hypotonia-seizures syndrome
intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8957 ! PIGA
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8957 {source="MONDO:mim2gene_medgen"} ! PIGA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010467
name: Xq27.3q28 duplication syndrome
def: "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." [Orphanet:261483]
subset: gard_rare {source="GARD:17247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261483"}
subset: ordo_malformation_syndrome {source="Orphanet:261483"}
subset: orphanet_rare {source="Orphanet:261483"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome Xq27.3-q28 DUPLICATION syndrome" RELATED [OMIM:300869]
synonym: "chromosome xq27.3-q28 duplication syndrome, X-linked recessive" EXACT [OMIM:300869, OMIM:genemap2]
synonym: "dup(X)(q27.3q28)" EXACT [Orphanet:261483]
synonym: "trisomy Xq27.3-q28" EXACT [Orphanet:261483]
synonym: "trisomy Xq27.3q28" EXACT [Orphanet:261483]
synonym: "Xq27.3-q28 microduplication syndrome" EXACT [Orphanet:261483]
xref: GARD:17247 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:261483/attributed", source="Orphanet:261483/ntbt", source="Orphanet:261483"}
xref: MEDGEN:477152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300869 {source="Orphanet:261483", source="MONDO:equivalentTo", source="Orphanet:261483/e"}
xref: Orphanet:261483 {source="MONDO:equivalentTo", source="OMIM:300869"}
xref: UMLS:C3275521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477152"}
is_a: MONDO:0000762 {source="DC-OMIM:300869", source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017010 {source="Orphanet:261483"} ! partial duplication of the long arm of chromosome X
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chrXq27.3-q28 ! Xq27.3-q28 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010468
name: aneurysm, intracranial berry, 5
subset: gard_rare {source="GARD:18321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 5" RELATED [MONDO:Lexical, OMIM:300870]
synonym: "ANIB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300870]
xref: DOID:0080968 {source="MONDO:equivalentTo"}
xref: GARD:18321 {source="MONDO:GARD"}
xref: MEDGEN:324377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563670 {source="MONDO:equivalentTo"}
xref: OMIM:300870 {source="MONDO:equivalentTo"}
xref: UMLS:C1835857 {source="MEDGEN:324377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016483 {source="DC-OMIM:300870", source="OMIM:300870"} ! intracranial berry aneurysm

[Term]
id: MONDO:0010469
name: epsilon-trimethyllysine hydroxylase deficiency
subset: predisposition
synonym: "autism, susceptibility to, X-linked 6" RELATED [OMIM:300872]
synonym: "autism, susceptibility to, X-linked 6, X-linked recessive" EXACT [OMIM:300872, OMIM:genemap2]
synonym: "AUTSX6" RELATED ABBREVIATION [OMIM:300872]
synonym: "EPSILON-trimethyllysine HYDROXYLASE deficiency" RELATED [OMIM:300872]
synonym: "epsilon-trimethyllysine hydroxylase deficiency" EXACT [MONDO:Lexical, OMIM:300872]
synonym: "susceptibility to X-linked autism 6" RELATED [OMIM:300872]
synonym: "TMLHED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300872]
xref: MEDGEN:763789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300872 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:300872"}
xref: UMLS:C3550875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763789"}
is_a: MONDO:0020573 {source="OMIM:300872"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18308 {source="MONDO:mim2gene_medgen"} ! TMLHE
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010470
name: obsolete Baratela-Scott syndrome
xref: OMIM:300881 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2961" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014343

[Term]
id: MONDO:0010471
name: Cornelia de Lange syndrome 5
subset: gard_rare {source="GARD:15271", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDLS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300882]
synonym: "Cornelia DE Lange syndrome 5" RELATED [OMIM:300882]
synonym: "Cornelia de Lange syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300882]
synonym: "Cornelia de Lange syndrome 5, X-linked dominant" EXACT [OMIM:300882, OMIM:genemap2]
synonym: "Cornelia De Lange syndrome type 5" EXACT [MONDORULE:1, OMIM:300882]
xref: DOID:0080509 {source="MONDO:equivalentTo"}
xref: GARD:15271 {source="MONDO:GARD"}
xref: MEDGEN:763817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300882 {source="MONDO:equivalentTo"}
xref: Orphanet:199 {source="OMIM:300882"}
xref: UMLS:C3550903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763817"}
is_a: MONDO:0016033 {source="DC-OMIM:300882", source="OMIM:300882"} ! Cornelia de Lange syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010472
name: developmental and epileptic encephalopathy, 36
subset: gard_rare {source="GARD:12401", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324422"}
subset: orphanet_rare {source="Orphanet:324422"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG13-CDG" EXACT [Orphanet:324422]
synonym: "CDG Is" RELATED [OMIM:300884]
synonym: "CDG syndrome type Is" EXACT [Orphanet:324422]
synonym: "CDG-Is" EXACT [Orphanet:324422]
synonym: "CDG1S" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300884, Orphanet:324422]
synonym: "congenital disorder of glycosylation type 1s" EXACT [Orphanet:324422]
synonym: "congenital disorder of glycosylation type Is" EXACT [Orphanet:324422]
synonym: "congenital disorder of glycosylation, type Is" RELATED [MONDO:Lexical, OMIM:300884]
synonym: "DEE36" EXACT ABBREVIATION [OMIM:300884]
synonym: "developmental and epileptic encephalopathy 36" EXACT [OMIM:300884, OMIM:genemap2]
synonym: "EIEE36" EXACT ABBREVIATION [OMIM:300884]
synonym: "epileptic encephalopathy, early infantile, 36" EXACT [OMIM:300884]
xref: DOID:0080470 {source="MONDO:equivalentTo"}
xref: GARD:12401 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:324422", source="Orphanet:324422/attributed", source="Orphanet:324422/ntbt"}
xref: MEDGEN:1382656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300884 {source="Orphanet:324422", source="Orphanet:324422/nd", source="MONDO:equivalentTo"}
xref: Orphanet:324422 {source="MONDO:equivalentTo", source="OMIM:300884"}
xref: SCTID:733451007 {source="MONDO:equivalentTo"}
xref: UMLS:C4317295 {source="MEDGEN:1382656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:300884"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:324422"} ! disorder of protein N-glycosylation
is_a: MONDO:0100062 {source="OMIM:300884"} ! developmental and epileptic encephalopathy
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30881 {source="MONDO:mim2gene_medgen"} ! ALG13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010473
name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
def: "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28." [DOID:0060828, PMID:22814392]
subset: gard_rare {source="GARD:17485", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324410"}
subset: orphanet_rare {source="Orphanet:324410"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive" EXACT [OMIM:300886, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic 32" EXACT [DOID:0060828, MONDO:Lexical, OMIM:300886]
synonym: "intellectual disability, X-linked, syndromic type 32" EXACT [MONDORULE:2, OMIM:300886]
synonym: "mental retardation, X-linked, syndromic 32" EXACT DEPRECATED [DOID:0060828, MONDO:Lexical, OMIM:300886]
synonym: "mental retardation, X-linked, syndromic type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:300886]
synonym: "MRXS32" EXACT ABBREVIATION [DOID:0060828, MONDO:Lexical, OMIM:300886]
xref: DOID:0060828 {source="MONDO:equivalentTo"}
xref: GARD:17485 {source="MONDO:GARD"}
xref: MEDGEN:763827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300886 {source="Orphanet:324410", source="MONDO:equivalentTo", source="Orphanet:324410/e", source="DOID:0060828"}
xref: Orphanet:324410 {source="MONDO:equivalentTo", source="OMIM:300886", source="DOID:0060828"}
xref: UMLS:C3550913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763827"}
is_a: MONDO:0020119 {source="DC-OMIM:300886", source="DOID:0060828", source="OMIM:300886", source="Orphanet:324410", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2063 {source="MONDO:mim2gene_medgen"} ! CLIC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010474
name: linear skin defects with multiple congenital anomalies 2
def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15272", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies" RELATED [OMIM:300887]
synonym: "COX7B microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "linear skin defects with multiple congenital anomalies 2" EXACT [MONDO:Lexical, OMIM:300887]
synonym: "linear skin defects with multiple congenital anomalies 2, X-linked dominant" EXACT [OMIM:300887, OMIM:genemap2]
synonym: "linear skin defects with multiple congenital anomalies type 2" EXACT [MONDORULE:1, OMIM:300887]
synonym: "LSDMCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300887]
synonym: "microphthalmia with linear skin defects syndrome caused by mutation in COX7B" EXACT [MONDO:design_pattern]
xref: DOID:0111877 {source="MONDO:equivalentTo"}
xref: GARD:15272 {source="MONDO:GARD"}
xref: MEDGEN:763835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300887 {source="MONDO:equivalentTo"}
xref: Orphanet:2556 {source="OMIM:300887"}
xref: UMLS:C3550921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763835"}
is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:300887", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies
intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2291 ! COX7B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2291 {source="MONDO:mim2gene_medgen"} ! COX7B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010475
name: X-linked central congenital hypothyroidism with late-onset testicular enlargement
def: "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." [NCIT:C130989]
subset: gard_rare {source="GARD:17499", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329235"}
subset: orphanet_rare {source="Orphanet:329235"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central hypothyroidism and testicular enlargement" EXACT [DOID:0111140]
synonym: "CHTE" EXACT ABBREVIATION [DOID:0111140, MONDO:Lexical, OMIM:300888]
synonym: "hypothyroidism Central and testicular enlargement" EXACT [NCIT:C130989]
synonym: "hypothyroidism, central, and testicular enlargement" RELATED [MONDO:Lexical, OMIM:300888]
synonym: "hypothyroidism, central, and testicular enlargement, X-linked recessive" EXACT [OMIM:300888, OMIM:genemap2]
synonym: "IGSF1 deficiency syndrome" EXACT [Orphanet:329235]
synonym: "Immunoglobulin superfamily member 1 deficiency syndrome" EXACT [NCIT:C130989]
synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [DOID:0111140, Orphanet:329235]
synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [DOID:0111140]
xref: DOID:0111140 {source="MONDO:equivalentTo"}
xref: GARD:17499 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="DOID:0111140", source="Orphanet:329235/attributed", source="Orphanet:329235/ntbt", source="Orphanet:329235"}
xref: MEDGEN:763877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C130989 {source="MONDO:equivalentTo"}
xref: OMIM:300888 {source="Orphanet:329235/e", source="DOID:0111140", source="MONDO:equivalentTo", source="Orphanet:329235"}
xref: Orphanet:329235 {source="DOID:0111140", source="MONDO:equivalentTo", source="OMIM:300888"}
xref: UMLS:C3550963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763877"}
is_a: MONDO:0000425 {source="DOID:0111140"} ! X-linked disease
is_a: MONDO:0002254 {source="NCIT:C130989"} ! syndromic disease
is_a: MONDO:0016410 {source="Orphanet:329235"} ! central congenital hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5948 {source="MONDO:mim2gene_medgen"} ! IGSF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010476
name: neurodegeneration with brain iron accumulation 5
def: "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood." [Orphanet:329284]
subset: gard_rare {source="GARD:12570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329284"}
subset: orphanet_rare {source="Orphanet:329284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "beta-propeller protein-associated neurodegeneration" EXACT [DOID:0110739, OMIM:300894]
synonym: "BPAN" EXACT ABBREVIATION [DOID:0110739, Orphanet:329284]
synonym: "NBIA5" EXACT ABBREVIATION [DOID:0110739, MONDO:Lexical, OMIM:300894, Orphanet:329284]
synonym: "neurodegeneration with brain iron accululation 5" RELATED [GARD:0012570]
synonym: "neurodegeneration with brain iron accumulation 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300894]
synonym: "neurodegeneration with brain iron accumulation 5, X-linked dominant" EXACT [OMIM:300894, OMIM:genemap2]
synonym: "neurodegeneration with brain iron accumulation caused by mutation in WDR45" EXACT [MONDO:design_pattern]
synonym: "neurodegeneration with brain iron accumulation type 5" EXACT [DOID:0110739, MONDORULE:1, OMIM:300894, Orphanet:329284]
synonym: "SENDA" EXACT ABBREVIATION [DOID:0110739, Orphanet:329284]
synonym: "static encephalopathy of childhood with neurdegeneration in adulthood" EXACT [Orphanet:329284]
synonym: "static encephalopathy Of childhood with neurodegeneration In adulthood" EXACT [DOID:0110739]
synonym: "static encephalopathy of childhood with neurodegeneration in adulthood" RELATED [OMIM:300894]
synonym: "WDR45 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110739 {source="MONDO:equivalentTo"}
xref: GARD:12570 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:329284", source="DOID:0110739", source="Orphanet:329284/attributed", source="Orphanet:329284/ntbt"}
xref: MEDGEN:763887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C175210 {source="MONDO:equivalentTo"}
xref: OMIM:300894 {source="MONDO:equivalentTo", source="Orphanet:329284", source="DOID:0110739", source="Orphanet:329284/e"}
xref: Orphanet:329284 {source="MONDO:equivalentTo", source="OMIM:300894", source="DOID:0110739"}
xref: SCTID:732959007 {source="MONDO:equivalentTo"}
xref: UMLS:C3550973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763887"}
is_a: MONDO:0018307 {source="DC-OMIM:300894", source="DOID:0110739", source="MONDO:Redundant", source="OMIM:300894", source="Orphanet:329284"} ! neurodegeneration with brain iron accumulation
intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28912 ! WDR45
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28912 {source="MONDO:mim2gene_medgen"} ! WDR45
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010477
name: blepharophimosis - intellectual disability syndrome, MKB type
def: "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males." [https://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type]
subset: gard_rare {source="GARD:17341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293707"}
subset: ordo_malformation_syndrome {source="Orphanet:293707"}
subset: orphanet_rare {source="Orphanet:293707"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type" EXACT [OMIM:300895, Orphanet:293707]
synonym: "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" RELATED DEPRECATED [OMIM:300895]
synonym: "BMRS, Maat-Kievit-Brunner type" EXACT [Orphanet:293707]
synonym: "BMRS, MKB type" EXACT [Orphanet:293707]
synonym: "Ohdo syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:300895]
synonym: "Ohdo syndrome, X-linked, X-linked recessive" EXACT [OMIM:300895, OMIM:genemap2]
synonym: "OHDOX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300895]
synonym: "X-linked Ohdo syndrome" EXACT [Orphanet:293707]
xref: GARD:17341 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:785805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300895 {source="Orphanet:293707", source="MONDO:equivalentTo", source="Orphanet:293707/e"}
xref: Orphanet:293707 {source="MONDO:equivalentTo", source="OMIM:300895"}
xref: SCTID:699297004 {source="MONDO:equivalentTo"}
xref: UMLS:C3698541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:785805"}
is_a: MONDO:0000734 {source="DC-OMIM:300895"} ! Ohdo syndrome and variants
is_a: MONDO:0100000 ! MED12-related intellectual disability syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11957 {source="MONDO:mim2gene_medgen"} ! MED12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010478
name: SLC35A2-congenital disorder of glycosylation
def: "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)." [Orphanet:356961]
subset: gard_rare {source="GARD:12403", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:356961"}
subset: ordo_inheritance_inconsistent
subset: orphanet_rare {source="Orphanet:356961"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDG IIm" RELATED [OMIM:300896]
synonym: "CDG syndrome type IIm" EXACT [Orphanet:356961]
synonym: "CDG-IIm" EXACT [Orphanet:356961]
synonym: "CDG2M" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300896, Orphanet:356961]
synonym: "congenital disorder of glycosylation type 2m" EXACT [Orphanet:356961]
synonym: "congenital disorder of glycosylation type IIm" EXACT [Orphanet:356961]
synonym: "congenital disorder of glycosylation, type IIm" RELATED [GARD:0012403, MONDO:Lexical, OMIM:300896]
synonym: "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant" EXACT [OMIM:300896, OMIM:genemap2]
synonym: "EIEE22" RELATED ABBREVIATION [GARD:0012403, MONDO:Lexical]
synonym: "epileptic encephalopathy, early infantile, 22" RELATED [GARD:0012403, MONDO:Lexical, OMIM:300896]
synonym: "epileptic encephalopathy, early infantile, 22; EIEE22" RELATED [GARD:0012403]
synonym: "SLC35A2-CDG" EXACT ABBREVIATION [Orphanet:356961]
synonym: "SLC35A2-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0070265 {source="MONDO:equivalentTo"}
xref: GARD:12403 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:356961/attributed", source="Orphanet:356961/ntbt", source="Orphanet:356961"}
xref: MEDGEN:813018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300896 {source="Orphanet:356961", source="MONDO:equivalentTo", source="Orphanet:356961/e"}
xref: Orphanet:356961 {source="MONDO:equivalentTo", source="OMIM:300896"}
xref: UMLS:C3806688 {source="MEDGEN:813018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="DC-OMIM:300896", source="OMIM:300896"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017749 {source="Orphanet:356961"} ! disorder of multiple glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11022 {source="MONDO:mim2gene_medgen"} ! SLC35A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg" xsd:anyURI {source="GARD:0012403"}

[Term]
id: MONDO:0010479
name: Charcot-Marie-Tooth disease X-linked dominant 6
def: "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)." [Orphanet:352675]
comment: Editor note: check CMT6X synonym, this implies it is a subtype of CMT6
subset: gard_rare {source="GARD:12445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352675"}
subset: orphanet_rare {source="Orphanet:352675"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease X-linked dominant type 6" EXACT [DOID:0110207, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6" RELATED [MONDO:Lexical, OMIM:300905]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant" EXACT [OMIM:300905, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 6" EXACT [MONDORULE:1, OMIM:300905]
synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 6" EXACT [DOID:0110207]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 6" RELATED [OMIM:300905]
synonym: "CMT6X" RELATED ABBREVIATION [DOID:0110207, Orphanet:352675]
synonym: "CMTX6" EXACT ABBREVIATION [DOID:0110207, MONDO:Lexical, OMIM:300905, Orphanet:352675]
synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [DOID:0110207]
xref: DOID:0110207 {source="MONDO:equivalentTo"}
xref: GARD:12445 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110207", source="Orphanet:352675", source="Orphanet:352675/attributed", source="Orphanet:352675/ntbt"}
xref: MEDGEN:813032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300905 {source="DOID:0110207", source="MONDO:equivalentTo", source="Orphanet:352675", source="Orphanet:352675/e"}
xref: Orphanet:352675 {source="OMIM:300905", source="DOID:0110207", source="MONDO:equivalentTo"}
xref: SCTID:763347000 {source="MONDO:equivalentTo"}
xref: UMLS:C3806702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813032"}
is_a: MONDO:0015626 {source="DOID:0110207/inferred", source="MONDO:Redundant", source="OMIM:300905", source="Orphanet:352675/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018994 {source="DOID:0110207", source="Orphanet:352675"} ! Charcot-Marie-Tooth disease type X
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010480
name: anemia, nonspherocytic hemolytic, due to G6PD deficiency
def: "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." [https://www.clinicalgenome.org/affiliation/40026, https://www.clinicalgenome.org/affiliation/50147]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466026"}
subset: orphanet_rare {source="Orphanet:466026"}
subset: rare
synonym: "anemia, nonspherocytic hemolytic, due to G6PD deficiency" EXACT [OMIM:300908]
synonym: "Class I G6PD deficiency" EXACT [Orphanet:466026]
synonym: "class I glucose-6-phosphate dehydrogenase deficiency" EXACT [MONDO:0018750]
synonym: "hemolytic anaemia due to G6PD deficiency" EXACT OMO:0003005 []
synonym: "hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026]
synonym: "hemolytic anemia, G6PD deficient (favism), X-linked dominant" EXACT [OMIM:300908, OMIM:genemap2]
synonym: "severe hemolytic anaemia due to G6PD deficiency" EXACT OMO:0003005 []
synonym: "severe hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026]
xref: GARD:6520 {source="MONDO:GARD"}
xref: MEDGEN:403555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567533 {source="MONDO:equivalentTo"}
xref: OMIM:300908 {source="MONDO:equivalentTo"}
xref: Orphanet:362 {source="OMIM:300908"}
xref: Orphanet:466026 {source="MONDO:equivalentTo"}
xref: UMLS:C2720289 {source="MEDGEN:403555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000105 {source="DC-OMIM:300908"} ! anemia, nonspherocytic hemolytic
is_a: MONDO:0003664 ! hemolytic anemia
is_a: MONDO:0019231 {source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4057 {source="MONDO:mim2gene_medgen"} ! G6PD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4202" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6252" xsd:anyURI

[Term]
id: MONDO:0010481
name: angioedema
def: "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx." [MESH:D000799]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioedemas" EXACT [MESH:D000799]
synonym: "angioneurotic edema" NARROW [DOID:1558, MESH:D000799]
synonym: "angioneurotic Edemas" EXACT [MESH:D000799]
synonym: "angioneurotic oedema" NARROW OMO:0003005 []
synonym: "edema, angioneurotic" EXACT [MESH:D000799]
synonym: "edema, Quincke's" EXACT [MESH:D000799]
synonym: "Edemas, angioneurotic" EXACT [MESH:D000799]
synonym: "giant urticaria" EXACT [DOID:1558, MESH:D000799]
synonym: "giant Urticarias" EXACT [MESH:D000799]
synonym: "Quincke edema" EXACT [MESH:D000799]
synonym: "Quincke oedema" EXACT OMO:0003005 []
synonym: "Quincke's edema" EXACT [DOID:1558, MESH:D000799]
synonym: "Quincke's oedema" EXACT OMO:0003005 []
synonym: "Quinckes edema" EXACT [MESH:D000799]
synonym: "Quinckes oedema" EXACT OMO:0003005 []
synonym: "urticaria, giant" EXACT [MESH:D000799]
synonym: "Urticarias, giant" EXACT [MESH:D000799]
xref: CSP:2716-7007 {source="DOID:1558"}
xref: DOID:1558 {source="EFO:0005532", source="MONDO:equivalentTo"}
xref: EFO:0005532 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100665 {source="MONDO:otherHierarchy"}
xref: ICD10CM:T78.3 {source="DOID:1558"}
xref: ICD9:995.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000799 {source="EFO:0005532", source="MONDO:equivalentTo", source="DOID:1558"}
xref: NCIT:C112175 {source="EFO:0005532", source="MONDO:otherHierarchy", source="DOID:1558"}
xref: SCTID:157756002 {source="DOID:1558"}
xref: SCTID:269433002 {source="DOID:1558"}
xref: SCTID:400075008 {source="MONDO:equivalentTo", source="DOID:1558"}
xref: SCTID:41291007 {source="EFO:0005532", source="DOID:1558"}
xref: SCTID:82966003 {source="DOID:1558"}
xref: UMLS:C0002994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1543"}
is_a: MONDO:0005093 {source="DOID:1558", source="EFO:0005532", source="MESH:D000799/inferred", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0005385 {source="MESH:D000799", source="MONDO:Redundant", source="MONDO:indirect"} ! vascular disorder
is_a: MONDO:0005492 {source="MESH:D000799", source="MONDO:Redundant"} ! urticaria
is_a: MONDO:0019293 {source="MESH:D000799/inferred"} ! skin vascular disease

[Term]
id: MONDO:0010482
name: X-linked parkinsonism-spasticity syndrome
def: "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." [Orphanet:363654]
subset: gard_rare {source="GARD:17567", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363654"}
subset: orphanet_rare {source="Orphanet:363654"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PARKINSONISM with spasticity, X-linked" RELATED [MONDO:Lexical, OMIM:300911]
synonym: "Parkinsonism with spasticity, X-linked, X-linked recessive" EXACT [OMIM:300911, OMIM:genemap2]
synonym: "XPDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300911, Orphanet:363654]
xref: DOID:0112105 {source="MONDO:equivalentTo"}
xref: GARD:17567 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="Orphanet:363654", source="Orphanet:363654/attributed", source="Orphanet:363654/ntbt"}
xref: MEDGEN:813052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300911 {source="MONDO:equivalentTo", source="Orphanet:363654", source="Orphanet:363654/e"}
xref: Orphanet:363654 {source="MONDO:equivalentTo", source="OMIM:300911"}
xref: UMLS:C3806722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813052"}
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
is_a: MONDO:0100146 {source="https://clinicalgenome.org/affiliation/40006/"} ! ATP6AP2-related disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18305 {source="MONDO:mim2gene_medgen"} ! ATP6AP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010483
name: X-linked intellectual disability, Cantagrel type
def: "X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." [Orphanet:85277]
subset: gard_rare {source="GARD:16743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85277"}
subset: ordo_malformation_syndrome {source="Orphanet:85277"}
subset: orphanet_rare {source="Orphanet:85277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 98, X-linked dominant" EXACT [OMIM:300912, OMIM:genemap2]
synonym: "intellectual disability, X-linked 98" RELATED [MONDO:Lexical, OMIM:300912]
synonym: "intellectual disability, X-linked type 98" EXACT [MONDORULE:2, OMIM:300912]
synonym: "mental retardation, X-linked 98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912]
synonym: "mental retardation, X-linked type 98" EXACT DEPRECATED [MONDORULE:2, OMIM:300912]
synonym: "MRX98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912]
xref: DOID:0112044 {source="MONDO:equivalentTo"}
xref: GARD:16743 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85277", source="Orphanet:85277/attributed", source="Orphanet:85277/ntbt"}
xref: MEDGEN:813060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300912 {source="Orphanet:85277", source="MONDO:equivalentTo", source="Orphanet:85277/e"}
xref: Orphanet:85277 {source="MONDO:equivalentTo", source="OMIM:300912"}
xref: SCTID:719016007 {source="MONDO:equivalentTo"}
xref: UMLS:C3806730 {source="MEDGEN:813060", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="Orphanet:85277", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29433 {source="MONDO:mim2gene_medgen"} ! NEXMIF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010484
name: hearing loss, X-linked 6
def: "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18097", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COL4A6 X-linked nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, X-linked 6" NARROW [MONDO:Lexical, OMIM:300914]
synonym: "deafness, X-linked 6, X-linked recessive" NARROW [OMIM:300914, OMIM:genemap2]
synonym: "deafness, X-linked type 6" NARROW [MONDORULE:1, OMIM:300914]
synonym: "DFNX6" NARROW ABBREVIATION [MONDO:Lexical, OMIM:300914]
synonym: "hearing loss, X-linked 6" EXACT CLINGEN_LABEL []
synonym: "X-linked nonsyndromic deafness caused by mutation in COL4A6" NARROW [MONDO:design_pattern]
xref: DOID:0111740 {source="MONDO:equivalentTo"}
xref: GARD:18097 {source="MONDO:GARD"}
xref: MEDGEN:813067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300914 {source="MONDO:equivalentTo"}
xref: Orphanet:90625 {source="OMIM:300914"}
xref: UMLS:C3806737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813067"}
is_a: MONDO:0019586 {source="DC-OMIM:300914", source="MONDO:Redundant", source="OMIM:300914"} ! X-linked nonsyndromic hearing loss
intersection_of: MONDO:0019586 ! X-linked nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2208 ! COL4A6
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2208 {source="MONDO:mim2gene_medgen"} ! COL4A6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010485
name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
def: "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." [Orphanet:431140]
subset: gard_rare {source="GARD:17709", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431140"}
subset: ordo_malformation_syndrome {source="Orphanet:431140"}
subset: orphanet_rare {source="Orphanet:431140"}
subset: rare
synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" RELATED [OMIM:300915]
synonym: "Maine microphthalmos" RELATED [OMIM:300915]
synonym: "MCOPS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300915]
synonym: "microphthalmia, syndromic 13" RELATED [MONDO:Lexical, OMIM:300915]
synonym: "microphthalmia, syndromic type 13" EXACT [MONDORULE:2, OMIM:300915]
synonym: "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome" EXACT [Orphanet:431140]
xref: DOID:0111811 {source="MONDO:equivalentTo"}
xref: GARD:17709 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:431140/attributed", source="Orphanet:431140/ntbt", source="Orphanet:431140"}
xref: MEDGEN:813072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300915 {source="Orphanet:431140/e", source="MONDO:equivalentTo", source="Orphanet:431140"}
xref: Orphanet:431140 {source="OMIM:300915", source="MONDO:equivalentTo"}
xref: UMLS:C3806742 {source="MONDO:equivalentTo", source="MEDGEN:813072", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:431140"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016073 {source="DC-OMIM:300915", source="OMIM:300915", source="Orphanet:431140"} ! syndromic microphthalmia
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5004 {source="MONDO:mim2gene_medgen"} ! HMGB3

[Term]
id: MONDO:0010486
name: Olmsted syndrome, X-linked
subset: gard_rare {source="GARD:15273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Olmsted syndrome, X-linked" EXACT [OMIM:300918]
synonym: "Olmsted syndrome, X-linked, X-linked recessive" EXACT [OMIM:300918, OMIM:genemap2]
synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" EXACT [OMIM:300918]
xref: DOID:0112012 {source="MONDO:equivalentTo"}
xref: GARD:15273 {source="MONDO:GARD"}
xref: MEDGEN:813075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300918 {source="MONDO:equivalentTo"}
xref: Orphanet:659 {source="OMIM:300918"}
xref: UMLS:C3806745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813075"}
is_a: MONDO:0031421 {source="OMIM:300918"} ! Olmsted syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15455 {source="MONDO:mim2gene_medgen"} ! MBTPS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010487
name: intellectual disability, X-linked 99
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 99, X-linked recessive" EXACT [OMIM:300919, OMIM:genemap2]
synonym: "intellectual disability, X-linked 99" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300919]
synonym: "intellectual disability, X-linked type 99" EXACT [MONDORULE:2, OMIM:300919]
synonym: "mental retardation, X-linked 99" RELATED DEPRECATED [MONDO:Lexical, OMIM:300919]
synonym: "mental retardation, X-linked type 99" EXACT DEPRECATED [MONDORULE:2, OMIM:300919]
synonym: "MRX99" RELATED DEPRECATED [MONDO:Lexical, OMIM:300919]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern]
synonym: "USP9X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112026 {source="MONDO:equivalentTo"}
xref: GARD:22693 {source="MONDO:GARD"}
xref: MEDGEN:813076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300919 {source="MONDO:equivalentTo"}
xref: UMLS:C3806746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813076"}
is_a: MONDO:0019181 {source="DC-OMIM:300919", source="MONDO:Redundant", source="OMIM:300919"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 ! USP9X
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 {source="MONDO:mim2gene_medgen"} ! USP9X
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010488
name: intellectual disability, X-linked 100
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 100, X-linked recessive" EXACT [OMIM:300923, OMIM:genemap2]
synonym: "intellectual disability, X-linked 100" EXACT [MONDO:Lexical, OMIM:300923]
synonym: "intellectual disability, X-linked type 100" EXACT [MONDORULE:2, OMIM:300923]
synonym: "KIF4A non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 100" RELATED DEPRECATED [MONDO:Lexical, OMIM:300923]
synonym: "mental retardation, X-linked type 100" EXACT DEPRECATED [MONDORULE:2, OMIM:300923]
synonym: "MRX100" RELATED DEPRECATED [MONDO:Lexical, OMIM:300923]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in KIF4A" EXACT [MONDO:design_pattern]
xref: DOID:0112040 {source="MONDO:equivalentTo"}
xref: MEDGEN:855516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300923 {source="MONDO:equivalentTo"}
xref: UMLS:C3890167 {source="MEDGEN:855516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300923", source="MONDO:Redundant", source="OMIM:300923"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13339 ! KIF4A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13339 {source="MONDO:mim2gene_medgen"} ! KIF4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010489
name: intellectual disability, X-linked 101
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 101, X-linked recessive" EXACT [OMIM:300928, OMIM:genemap2]
synonym: "intellectual disability, X-linked 101" EXACT [MONDO:Lexical, OMIM:300928]
synonym: "intellectual disability, X-linked type 101" EXACT [MONDORULE:2, OMIM:300928]
synonym: "mental retardation, X-linked 101" RELATED DEPRECATED [MONDO:Lexical, OMIM:300928]
synonym: "mental retardation, X-linked type 101" EXACT DEPRECATED [MONDORULE:2, OMIM:300928]
synonym: "MID2 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MRX101" RELATED DEPRECATED [MONDO:Lexical, OMIM:300928]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in MID2" EXACT [MONDO:design_pattern]
xref: DOID:0112048 {source="MONDO:equivalentTo"}
xref: GARD:22694 {source="MONDO:GARD"}
xref: MEDGEN:855517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300928 {source="MONDO:equivalentTo"}
xref: UMLS:C3890168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:855517"}
is_a: MONDO:0019181 {source="DC-OMIM:300928", source="MONDO:Redundant", source="OMIM:300928"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7096 ! MID2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7096 {source="MONDO:mim2gene_medgen"} ! MID2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010490
name: SSR4-congenital disorder of glycosylation
def: "A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28)." [Orphanet:370927]
subset: gard_rare {source="GARD:12405", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370927"}
subset: orphanet_rare {source="Orphanet:370927"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type Iy" EXACT [Orphanet:370927]
synonym: "CDG 1Y" RELATED [OMIM:300934]
synonym: "CDG Iy" RELATED [GARD:0012405]
synonym: "CDG syndrome type Iy" EXACT [Orphanet:370927]
synonym: "CDG-Iy" EXACT [Orphanet:370927]
synonym: "CDG1Y" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300934, Orphanet:370927]
synonym: "CDGIy" RELATED [GARD:0012405]
synonym: "congenital disorder of glycosylation type 1y" EXACT [Orphanet:370927]
synonym: "congenital disorder of glycosylation type Iy" EXACT [Orphanet:370927]
synonym: "congenital disorder of glycosylation, type Iy" RELATED [MONDO:Lexical, OMIM:300934]
synonym: "congenital disorder of glycosylation, type Iy, X-linked recessive" EXACT [OMIM:300934, OMIM:genemap2]
synonym: "SSR4-CDG" EXACT ABBREVIATION [Orphanet:370927]
synonym: "SSR4-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0080574 {source="MONDO:equivalentTo"}
xref: GARD:12405 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:370927/attributed", source="Orphanet:370927/ntbt", source="Orphanet:370927"}
xref: MEDGEN:860832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300934 {source="Orphanet:370927", source="MONDO:equivalentTo", source="Orphanet:370927/e"}
xref: Orphanet:370927 {source="MONDO:equivalentTo", source="OMIM:300934"}
xref: SCTID:733115009 {source="MONDO:equivalentTo"}
xref: UMLS:C4012395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860832"}
is_a: MONDO:0005500 {source="DC-OMIM:300934"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015159 {source="Orphanet:370927"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015286 {source="MONDO:0010490/inferred", source="MONDO:Redundant", source="OMIM:300934", source="Orphanet:370927/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:370927"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11326 {source="MONDO:mim2gene_medgen"} ! SSR4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010491
name: X-linked acrogigantism due to Xq26 microduplication
subset: gard_rare {source="GARD:18433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:448372"}
subset: rare
synonym: "chromosome Xq26 microduplication syndrome" RELATED [OMIM:300942]
synonym: "chromosome Xq26.3 DUPLICATION syndrome" RELATED [OMIM:300942]
synonym: "chromosome xq26.3 duplication syndrome, X-linked dominant" EXACT [OMIM:300942, OMIM:genemap2]
synonym: "familial infantile gigantism due to dup(X)q(26)" EXACT [Orphanet:448372]
synonym: "familial infantile gigantism due to Xq26 microduplication" EXACT [Orphanet:448372]
synonym: "X-LAG (X-linked acrogigantism) due to dup(X)q(26)" EXACT [Orphanet:448372]
synonym: "X-linked acrogigantism" RELATED [OMIM:300942]
xref: GARD:18433 {source="MONDO:GARD"}
xref: ICD10CM:E22.0 {source="Orphanet:448372", source="Orphanet:448372/attributed", source="Orphanet:448372/ntbt"}
xref: MEDGEN:856021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300942 {source="MONDO:equivalentTo", source="Orphanet:448372", source="Orphanet:448372/e"}
xref: Orphanet:300373 {source="OMIM:300942"}
xref: Orphanet:448372 {source="MONDO:equivalentObsolete"}
xref: SCTID:768472004 {source="MONDO:equivalentTo"}
xref: UMLS:C3891556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:856021"}
is_a: MONDO:0000762 {source="DC-OMIM:300942", source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017010 ! partial duplication of the long arm of chromosome X
relationship: disease_arises_from_structure CHR:9606-chrXq26 {source="https://orcid.org/0000-0002-4142-7153"} ! Xq26 (Human)
relationship: excluded_subClassOf MONDO:0017009 {source="Orphanet:448372", source="https://orcid.org/0000-0001-5208-3432"} ! partial duplication of the short arm of chromosome X
relationship: has_characteristic HP:0001417 ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010492
name: pituitary adenoma, growth hormone-secreting, 2
def: "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15274", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acromegaly due to pituitary adenoma 2" RELATED [OMIM:300943]
synonym: "acromegaly, X-linked" RELATED [OMIM:300943]
synonym: "GPR101 pituitary gland adenoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PAGH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300943]
synonym: "PITA2" RELATED ABBREVIATION [OMIM:300943]
synonym: "pituitary adenoma 2, GH-secreting" EXACT [OMIM:300943, OMIM:genemap2]
synonym: "pituitary adenoma 2, Growth hormone-secreting" RELATED [OMIM:300943]
synonym: "pituitary adenoma 2, growth hormone-secreting" RELATED [OMIM:300943]
synonym: "pituitary adenoma, growth hormone-secreting, 2" EXACT [MONDO:Lexical, OMIM:300943]
synonym: "pituitary adenoma, Growth hormone-secreting, type 2" EXACT [MONDORULE:1, OMIM:300943]
synonym: "pituitary gland adenoma caused by mutation in GPR101" EXACT [MONDO:design_pattern]
xref: DOID:0112007 {source="MONDO:equivalentTo"}
xref: GARD:15274 {source="MONDO:GARD"}
xref: MEDGEN:860846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300943 {source="MONDO:equivalentTo"}
xref: Orphanet:963 {source="OMIM:300943"}
xref: UMLS:C4012409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860846"}
is_a: MONDO:0017824 {source="MONDO:Redundant", source="OMIM:300943"} ! familial isolated pituitary adenoma
intersection_of: MONDO:0017824 ! familial isolated pituitary adenoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14963 ! GPR101
relationship: excluded_subClassOf MONDO:0019933 {source="Orphanet:963/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! acromegaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14963 {source="MONDO:mim2gene_medgen"} ! GPR101
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010493
name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15275", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300946]
synonym: "Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anaemia caused by mutation in TSR2" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:300946]
synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive" EXACT [OMIM:300946, OMIM:genemap2]
synonym: "Diamond-Blackfan anemia caused by mutation in TSR2" EXACT [MONDO:design_pattern]
synonym: "TSR2 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "TSR2 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111897 {source="MONDO:equivalentTo"}
xref: GARD:15275 {source="MONDO:GARD"}
xref: MEDGEN:895657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300946 {source="MONDO:equivalentTo"}
xref: UMLS:C4225422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895657"}
is_a: MONDO:0015253 {source="DC-OMIM:300946", source="MONDO:Redundant", source="OMIM:300946"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25455 ! TSR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25455 {source="MONDO:mim2gene_medgen"} ! TSR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010494
name: linear skin defects with multiple congenital anomalies 3
def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15276", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "linear skin defects with cardiomyopathy and Other congenital anomalies" RELATED [OMIM:300952]
synonym: "linear skin defects with multiple congenital anomalies 3" EXACT [MONDO:Lexical, OMIM:300952]
synonym: "linear skin defects with multiple congenital anomalies 3, X-linked dominant" EXACT [OMIM:300952, OMIM:genemap2]
synonym: "linear skin defects with multiple congenital anomalies type 3" EXACT [MONDORULE:1, OMIM:300952]
synonym: "LSDMCA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300952]
synonym: "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11" EXACT [MONDO:design_pattern]
synonym: "NDUFB11 microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111876 {source="MONDO:equivalentTo"}
xref: GARD:15276 {source="MONDO:GARD"}
xref: MEDGEN:906997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300952 {source="MONDO:equivalentTo"}
xref: Orphanet:2556 {source="OMIM:300952"}
xref: UMLS:C4225421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906997"}
is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:300952", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies
intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 {source="MONDO:mim2gene_medgen"} ! NDUFB11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010495
name: trichothiodystrophy 5, nonphotosensitive
def: "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15277", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A" EXACT [MONDO:design_pattern]
synonym: "RNF113A nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "trichothiodystrophy 5, nonphotosensitive" EXACT [MONDO:Lexical, OMIM:300953]
synonym: "TTD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300953]
xref: DOID:0111868 {source="MONDO:equivalentTo"}
xref: GARD:15277 {source="MONDO:GARD"}
xref: MEDGEN:899675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300953 {source="MONDO:equivalentTo"}
xref: UMLS:C4225420 {source="MEDGEN:899675", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:300953"} ! trichothiodystrophy
intersection_of: MONDO:0018053 ! trichothiodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12974 ! RNF113A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12974 {source="MONDO:mim2gene_medgen"} ! RNF113A

[Term]
id: MONDO:0010496
name: X-linked intellectual disability-short stature-overweight syndrome
def: "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted." [Orphanet:457240]
subset: gard_rare {source="GARD:17800", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457240"}
subset: ordo_malformation_syndrome {source="Orphanet:457240"}
subset: orphanet_rare {source="Orphanet:457240"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 12, X-linked recessive" EXACT [OMIM:300957, OMIM:genemap2]
synonym: "intellectual disability, X-linked 12" RELATED [MONDO:Lexical, OMIM:300957]
synonym: "intellectual disability, X-linked 35" RELATED [OMIM:300957]
synonym: "intellectual disability, X-linked type 12" EXACT [MONDORULE:2, OMIM:300957]
synonym: "mental retardation, X-linked 12" RELATED DEPRECATED [MONDO:Lexical, OMIM:300957]
synonym: "mental retardation, X-linked 35" RELATED DEPRECATED [OMIM:300957]
synonym: "mental retardation, X-linked type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:300957]
synonym: "MRX12" RELATED DEPRECATED [MONDO:Lexical, OMIM:300957]
xref: DOID:0112056 {source="MONDO:equivalentTo"}
xref: GARD:17800 {source="MONDO:GARD"}
xref: MEDGEN:901885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300957 {source="Orphanet:457240/e", source="MONDO:equivalentTo", source="Orphanet:457240"}
xref: Orphanet:457240 {source="MONDO:equivalentTo"}
xref: UMLS:C0796218 {source="MEDGEN:901885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:457240"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:457240", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19073 {source="MONDO:mim2gene_medgen"} ! THOC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010497
name: intellectual disability, X-linked 102
def: "An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features." [NCIT:C129931]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DDX3X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DDX3X-related intellectual disability" RELATED [GARD:0012715]
synonym: "intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant" EXACT [OMIM:300958, OMIM:genemap2]
synonym: "intellectual disability, X-linked 102" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300958]
synonym: "intellectual disability, X-linked type 102" EXACT [MONDORULE:2, OMIM:300958]
synonym: "mental retardation, X-linked 102" RELATED DEPRECATED [MONDO:Lexical, OMIM:300958]
synonym: "mental retardation, X-linked type 102" EXACT DEPRECATED [MONDORULE:2, OMIM:300958]
synonym: "MRX102" RELATED DEPRECATED [MONDO:Lexical, OMIM:300958]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in DDX3X" EXACT [MONDO:design_pattern]
xref: MEDGEN:1715418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129931 {source="MONDO:equivalentTo"}
xref: OMIM:300958 {source="MONDO:equivalentTo"}
xref: UMLS:C5393299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715418"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0019181 {source="DC-OMIM:300958", source="MONDO:Redundant", source="OMIM:300958"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2745 ! DDX3X
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2745 {source="MONDO:mim2gene_medgen"} ! DDX3X
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010498
name: MEND syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401973"}
subset: ordo_malformation_syndrome {source="Orphanet:401973"}
subset: orphanet_rare {source="Orphanet:401973"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Male EBP disorder with neurologic defects" RELATED [OMIM:300960]
synonym: "Male EBP disorder with neurological defects" EXACT [Orphanet:401973]
synonym: "MEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300960]
synonym: "MEND syndrome" EXACT [MONDO:Lexical, OMIM:300960]
synonym: "MEND syndrome, X-linked recessive" EXACT [OMIM:300960, OMIM:genemap2]
xref: DOID:0111865 {source="MONDO:equivalentTo"}
xref: GARD:17666 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:401973/attributed", source="Orphanet:401973/ntbt", source="Orphanet:401973"}
xref: MEDGEN:905986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300960 {source="Orphanet:401973", source="MONDO:equivalentTo", source="Orphanet:401973/e"}
xref: Orphanet:401973 {source="MONDO:equivalentTo", source="OMIM:300960"}
xref: UMLS:C4085243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905986"}
is_a: MONDO:0019240 {source="Orphanet:401973"} ! sterol biosynthesis disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:401973", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3133 {source="MONDO:mim2gene_medgen"} ! EBP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010499
name: Ritscher-Schinzel syndrome 2
def: "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15278", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCDC22 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Ritscher-Schinzel syndrome 2" EXACT [OMIM:300963]
synonym: "Ritscher-Schinzel syndrome 2, X-linked recessive" EXACT [OMIM:300963, OMIM:genemap2]
synonym: "Ritscher-Schinzel syndrome caused by mutation in CCDC22" EXACT [MONDO:design_pattern]
synonym: "Ritscher-Schinzel syndrome type 2" EXACT [DOID:0060572, MONDORULE:1, OMIM:300963]
synonym: "RTSC2" EXACT ABBREVIATION [OMIM:300963]
xref: DOID:0060572 {source="MONDO:equivalentTo"}
xref: GARD:15278 {source="MONDO:GARD"}
xref: MEDGEN:897005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300963 {source="DOID:0060572", source="MONDO:equivalentTo"}
xref: Orphanet:7 {source="DOID:0060572"}
xref: UMLS:C4225419 {source="MEDGEN:897005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019078 {source="DC-OMIM:300963", source="DOID:0060572", source="MONDO:Redundant", source="OMIM:300963"} ! Ritscher-Schinzel syndrome
intersection_of: MONDO:0019078 ! Ritscher-Schinzel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28909 ! CCDC22
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28909 {source="MONDO:mim2gene_medgen"} ! CCDC22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010500
name: intellectual disability, X-linked, syndromic 33
def: "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive" EXACT [OMIM:300966, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic 33" EXACT [OMIM:300966]
synonym: "intellectual disability, X-linked, syndromic type 33" EXACT [MONDORULE:2, OMIM:300966]
synonym: "mental retardation, X-linked, syndromic 33" EXACT DEPRECATED [OMIM:300966]
synonym: "mental retardation, X-linked, syndromic type 33" EXACT DEPRECATED [MONDORULE:2, OMIM:300966]
synonym: "MRXS33" EXACT ABBREVIATION [OMIM:300966]
synonym: "TAF1 X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked syndromic intellectual disability caused by mutation in TAF1" EXACT [MONDO:design_pattern]
xref: MEDGEN:895979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300966 {source="MONDO:equivalentTo"}
xref: UMLS:C4225418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895979"}
is_a: MONDO:0020119 {source="DC-OMIM:300966", source="MONDO:Redundant", source="OMIM:300966", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11535 ! TAF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11535 {source="MONDO:mim2gene_medgen"} ! TAF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010501
name: syndromic X-linked intellectual disability 34
def: "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." [Orphanet:466791]
subset: gard_rare {source="GARD:17832", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466791"}
subset: ordo_malformation_syndrome {source="Orphanet:466791"}
subset: orphanet_rare {source="Orphanet:466791"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic 34" EXACT [OMIM:300967, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic 34" EXACT [DOID:0060817, OMIM:300967]
synonym: "intellectual disability, X-linked, syndromic type 34" EXACT [MONDORULE:2, OMIM:300967]
synonym: "intellectual disability, X-linked, syndromic, Mircsof-Langouet type" RELATED [OMIM:300967]
synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT [DOID:0060817, Orphanet:466791]
synonym: "mental retardation, X-linked, syndromic 34" EXACT DEPRECATED [DOID:0060817, OMIM:300967]
synonym: "mental retardation, X-linked, syndromic type 34" EXACT DEPRECATED [MONDORULE:2, OMIM:300967]
synonym: "mental retardation, X-linked, syndromic, Mircsof-Langouet type" RELATED DEPRECATED [OMIM:300967]
synonym: "MRXS34" EXACT ABBREVIATION [DOID:0060817, OMIM:300967]
synonym: "MRXSML" EXACT ABBREVIATION [DOID:0060817]
synonym: "NONO X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "syndromic X-linked intellectual disability Mircsof-Langouet type" EXACT [DOID:0060817]
synonym: "syndromic X-linked intellectual disability type 34" EXACT [DOID:0060817, MONDORULE:2]
synonym: "syndromic X-linked mental retardation Mircsof-Langouet type" EXACT DEPRECATED [DOID:0060817]
synonym: "X-linked syndromic intellectual disability caused by mutation in NONO" EXACT [MONDO:design_pattern]
xref: DOID:0060817 {source="MONDO:equivalentTo"}
xref: GARD:17832 {source="MONDO:GARD"}
xref: MEDGEN:902184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300967 {source="MONDO:equivalentTo", source="Orphanet:466791", source="DOID:0060817"}
xref: Orphanet:466791 {source="MONDO:equivalentTo", source="DOID:0060817"}
xref: UMLS:C4225417 {source="MEDGEN:902184", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:466791"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="DC-OMIM:300967", source="DOID:0060817", source="MONDO:Redundant", source="OMIM:300967", source="Orphanet:466791", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7871 ! NONO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7871 {source="MONDO:mim2gene_medgen"} ! NONO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010502
name: intellectual disability, X-linked 99, syndromic, female-restricted
def: "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant" EXACT [OMIM:300968, OMIM:genemap2]
synonym: "intellectual disability, X-linked 99, syndromic, female-restricted" EXACT [OMIM:300968]
synonym: "mental retardation, X-linked 99, syndromic, female-restricted" EXACT DEPRECATED [OMIM:300968]
synonym: "MRXS99F" EXACT ABBREVIATION [OMIM:300968]
synonym: "USP9X X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "X-linked syndromic intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern]
xref: DOID:0112025 {source="MONDO:equivalentTo"}
xref: MEDGEN:899839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300968 {source="MONDO:equivalentTo"}
xref: UMLS:C4225416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899839"}
is_a: MONDO:0020119 {source="DC-OMIM:300968", source="MONDO:Redundant", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 ! USP9X
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 {source="MONDO:mim2gene_medgen"} ! USP9X
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010503
name: Bartter disease type 5
def: "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22308", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:570371"}
subset: rare
synonym: "BARTS5" EXACT ABBREVIATION [DOID:0110147, OMIM:300971]
synonym: "Bartter syndrome caused by mutation in MAGED2" EXACT [MONDO:design_pattern]
synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT [DOID:0110147, OMIM:300971]
synonym: "Bartter syndrome, type 5, antenatal, transient, X-linked recessive" EXACT [OMIM:300971, OMIM:genemap2]
synonym: "MAGED2 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110147 {source="MONDO:equivalentTo"}
xref: GARD:22308 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="Orphanet:570371", source="DOID:0110147"}
xref: MEDGEN:934787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300971 {source="MONDO:equivalentTo", source="DOID:0110147"}
xref: Orphanet:570371 {source="MONDO:equivalentTo"}
xref: UMLS:C4310820 {source="MEDGEN:934787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015231 {source="DOID:0110147", source="MONDO:Redundant", source="OMIM:300971"} ! Bartter syndrome
intersection_of: MONDO:0015231 ! Bartter syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16353 ! MAGED2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16353 {source="MONDO:mim2gene_medgen"} ! MAGED2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010504
name: immunodeficiency 47
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATP6AP1 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IMD47" EXACT ABBREVIATION [OMIM:300972]
synonym: "immunodeficiency 47" EXACT [OMIM:300972]
synonym: "immunodeficiency 47, X-linked recessive" EXACT [OMIM:300972, OMIM:genemap2]
synonym: "immunodeficiency 47; IMD47" EXACT []
synonym: "immunodeficiency and hepatopathy with or without neurologic features" RELATED [OMIM:300972]
synonym: "immunodeficiency type 47" EXACT [MONDORULE:2, OMIM:300972]
synonym: "primary immunodeficiency disease caused by mutation in ATP6AP1" EXACT [MONDO:design_pattern]
xref: DOID:0112002 {source="MONDO:equivalentTo"}
xref: MEDGEN:934786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300972 {source="MONDO:equivalentTo"}
xref: UMLS:C4310819 {source="MEDGEN:934786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DC-OMIM:300972", source="MONDO:Redundant"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0003778 ! inborn error of immunity
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/868 ! ATP6AP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/868 {source="MONDO:mim2gene_medgen"} ! ATP6AP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010505
name: intellectual disability-balding-patella luxation-acromicria syndrome
def: "Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." [Orphanet:3041]
subset: gard_rare {source="GARD:257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3041"}
subset: ordo_malformation_syndrome {source="Orphanet:3041"}
subset: orphanet_rare {source="Orphanet:3041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early balding, patella luxation, acromicria and hypogonadism" RELATED [GARD:0000257]
synonym: "early balding, patella luxation, acromicria, and hypogonadism" RELATED [OMIM:300977]
synonym: "SCHOLTE syndrome" RELATED [OMIM:300977]
synonym: "Scholte syndrome" EXACT [OMIM:300977]
synonym: "Scholte-Begeer-van Essen syndrome" EXACT [Orphanet:3041]
synonym: "SHLTS" EXACT ABBREVIATION [OMIM:300977]
xref: GARD:257 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3041/attributed", source="Orphanet:3041/ntbt", source="Orphanet:3041"}
xref: MEDGEN:401129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536638 {source="MONDO:equivalentTo"}
xref: OMIM:300977 {source="Orphanet:3041/e", source="MONDO:equivalentTo", source="Orphanet:3041"}
xref: Orphanet:3041 {source="MONDO:equivalentTo"}
xref: SCTID:722002002 {source="MONDO:equivalentTo"}
xref: UMLS:C1866985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401129"}
is_a: MONDO:0015159 {source="Orphanet:3041"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019695 {source="Orphanet:3041"} ! acromelic dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3041", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010506
name: intellectual disability, X-linked 61
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, X-linked 61" EXACT [OMIM:300978]
synonym: "intellectual disability, X-linked type 61" EXACT [MONDORULE:2, OMIM:300978]
synonym: "mental retardation, X-linked 61" EXACT DEPRECATED [OMIM:300978]
synonym: "mental retardation, X-linked type 61" EXACT DEPRECATED [MONDORULE:2, OMIM:300978]
synonym: "MRX61" EXACT ABBREVIATION [OMIM:300978]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in RLIM" EXACT [MONDO:design_pattern]
synonym: "RLIM non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Tonne-Kalscheuer syndrome" EXACT [OMIM:300978, OMIM:genemap2]
xref: DOID:0112042 {source="MONDO:equivalentTo"}
xref: GARD:22695 {source="MONDO:GARD"}
xref: MEDGEN:924419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300978 {source="MONDO:equivalentTo"}
xref: UMLS:C4283894 {source="MONDO:equivalentTo", source="MEDGEN:924419", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:300978", source="MONDO:Redundant", source="OMIM:300978"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13429 ! RLIM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13429 {source="MONDO:mim2gene_medgen"} ! RLIM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010507
name: Xq25 microduplication syndrome
subset: gard_rare {source="GARD:17955", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521258"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:521258"}
subset: rare
synonym: "Xq25 duplication syndrome" EXACT [OMIM:300979, OMIM:genemap2]
synonym: "Xq25 triplication syndrome" RELATED [OMIM:300979]
xref: GARD:17955 {source="MONDO:GARD"}
xref: MEDGEN:935016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C177544 {source="MONDO:equivalentTo"}
xref: OMIM:300979 {source="Orphanet:521258", source="MONDO:equivalentTo"}
xref: Orphanet:521258 {source="MONDO:equivalentTo"}
xref: UMLS:C4311049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:935016"}
is_a: MONDO:0000762 {source="DC-OMIM:300979"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017010 {source="Orphanet:521258"} ! partial duplication of the long arm of chromosome X
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chrXq25 ! Xq25 (Human)
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:521258", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:521258", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010508
name: intellectual disability, X-linked 103
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 103, X-linked recessive" EXACT [OMIM:300982, OMIM:genemap2]
synonym: "intellectual disability, X-linked 103" EXACT [OMIM:300982]
synonym: "intellectual disability, X-linked type 103" EXACT [MONDORULE:2, OMIM:300982]
synonym: "KLHL15 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, X-linked 103" EXACT DEPRECATED [OMIM:300982]
synonym: "mental retardation, X-linked type 103" EXACT DEPRECATED [MONDORULE:2, OMIM:300982]
synonym: "MRX103" EXACT ABBREVIATION [OMIM:300982]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in KLHL15" EXACT [MONDO:design_pattern]
xref: DOID:0112020 {source="MONDO:equivalentTo"}
xref: MEDGEN:934785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300982 {source="MONDO:equivalentTo"}
xref: UMLS:C4310818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934785"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0019181 {source="DC-OMIM:300982", source="MONDO:Redundant", source="OMIM:300982"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29347 ! KLHL15
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29347 {source="MONDO:mim2gene_medgen"} ! KLHL15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010509
name: intellectual disability, X-linked 104
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FRMPD4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, X-linked 104" EXACT [OMIM:300983, OMIM:genemap2]
synonym: "intellectual disability, X-linked 104" EXACT [OMIM:300983]
synonym: "intellectual disability, X-linked type 104" EXACT [MONDORULE:2, OMIM:300983]
synonym: "mental retardation, X-linked 104" EXACT DEPRECATED [OMIM:300983]
synonym: "mental retardation, X-linked type 104" EXACT DEPRECATED [MONDORULE:2, OMIM:300983]
synonym: "MRX104" EXACT ABBREVIATION [OMIM:300983]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in FRMPD4" EXACT [MONDO:design_pattern]
xref: DOID:0112018 {source="MONDO:equivalentTo"}
xref: GARD:22696 {source="MONDO:GARD"}
xref: MEDGEN:934784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300983 {source="MONDO:equivalentTo"}
xref: UMLS:C4310817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934784"}
is_a: MONDO:0019181 {source="DC-OMIM:300983", source="MONDO:Redundant", source="OMIM:300983"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29007 ! FRMPD4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29007 {source="MONDO:mim2gene_medgen"} ! FRMPD4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010510
name: intellectual disability, X-linked 105
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 105, X-linked recessive" EXACT [OMIM:300984, OMIM:genemap2]
synonym: "intellectual disability, X-linked 105" EXACT [OMIM:300984]
synonym: "intellectual disability, X-linked type 105" EXACT [MONDORULE:2, OMIM:300984]
synonym: "mental retardation, X-linked 105" EXACT DEPRECATED [OMIM:300984]
synonym: "mental retardation, X-linked type 105" EXACT DEPRECATED [MONDORULE:2, OMIM:300984]
synonym: "MRX105" EXACT ABBREVIATION [OMIM:300984]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP27X" EXACT [MONDO:design_pattern]
synonym: "USP27X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112036 {source="MONDO:equivalentTo"}
xref: GARD:22697 {source="MONDO:GARD"}
xref: MEDGEN:934783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300984 {source="MONDO:equivalentTo"}
xref: UMLS:C4310816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934783"}
is_a: MONDO:0019181 {source="DC-OMIM:300984", source="MONDO:Redundant", source="OMIM:300984"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13486 ! USP27X
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13486 {source="MONDO:mim2gene_medgen"} ! USP27X
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010511
name: vas deferens, congenital bilateral aplasia of, X-linked
subset: gard_rare {source="GARD:15279", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CBAVDX" EXACT ABBREVIATION [OMIM:300985]
synonym: "congenital bilateral absence of vas deferens, X-linked" EXACT [OMIM:300985, OMIM:genemap2]
synonym: "vas deferens, congenital bilateral aplasia of, X-linked" EXACT [OMIM:300985]
synonym: "vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX" EXACT []
xref: DOID:0111863 {source="MONDO:equivalentTo"}
xref: GARD:15279 {source="MONDO:GARD"}
xref: MEDGEN:934782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300985 {source="MONDO:equivalentTo"}
xref: UMLS:C4310815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934782"}
is_a: MONDO:0018801 {source="OMIM:300985", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4516 {source="MONDO:mim2gene_medgen"} ! ADGRG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010512
name: intellectual disability, X-linked, syndromic, Bain type
subset: gard_rare {source="GARD:13442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant" EXACT [OMIM:300986, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic, Bain type" EXACT [OMIM:300986]
synonym: "mental retardation, X-linked, syndromic, Bain type" EXACT DEPRECATED [OMIM:300986]
synonym: "MRXSB" EXACT ABBREVIATION [OMIM:300986]
xref: DOID:0070538 {source="MONDO:equivalentTo"}
xref: GARD:13442 {source="MONDO:GARD"}
xref: MEDGEN:934781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300986 {source="MONDO:equivalentTo"}
xref: UMLS:C4310814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934781"}
is_a: MONDO:0020119 {source="DC-OMIM:300986", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5042 {source="MONDO:mim2gene_medgen"} ! HNRNPH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010513
name: obsolete intellectual disability, X-linked, syndromic, Borck type
comment: OMIM merged these.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1693" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010258

[Term]
id: MONDO:0010514
name: combined immunodeficiency due to moesin deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17939", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:504530"}
subset: orphanet_rare {source="Orphanet:504530"}
subset: rare
synonym: "CID due to Moesin deficiency" EXACT [Orphanet:504530]
synonym: "IMD50" EXACT ABBREVIATION [OMIM:300988]
synonym: "immunodeficiency 50" EXACT [OMIM:300988]
synonym: "immunodeficiency 50, X-linked recessive" RELATED [OMIM:300988]
synonym: "immunodeficiency type 50" EXACT [MONDORULE:2, OMIM:300988]
synonym: "MSN-related combined immunodeficiency" EXACT [Orphanet:504530]
synonym: "X-linked Moesin-associated immunodeficiency" EXACT [Orphanet:504530]
xref: DOID:0112001 {source="MONDO:equivalentTo"}
xref: GARD:17939 {source="MONDO:GARD"}
xref: MEDGEN:1799546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300988 {source="MONDO:equivalentTo", source="Orphanet:504530"}
xref: Orphanet:504530 {source="MONDO:equivalentTo"}
xref: UMLS:C5568123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799546"}
is_a: MONDO:0003778 {source="DC-OMIM:300988", source="MONDO:indirect"} ! inborn error of immunity
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:300988"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:504530", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7373 {source="MONDO:mim2gene_medgen"} ! MSN

[Term]
id: MONDO:0010515
name: Meester-Loeys syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Meester-Loeys syndrome" EXACT [OMIM:300989]
synonym: "Meester-Loeys syndrome; MRLS" EXACT []
synonym: "MRLS" EXACT ABBREVIATION [OMIM:300989]
xref: DOID:0111861 {source="MONDO:equivalentTo"}
xref: MEDGEN:934778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C187989 {source="MONDO:equivalentTo"}
xref: OMIM:300989 {source="MONDO:equivalentTo"}
xref: UMLS:C4310811 {source="MEDGEN:934778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1044 {source="MONDO:mim2gene_medgen"} ! BGN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0010516
name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MFHIEN" EXACT ABBREVIATION [OMIM:300990]
synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" EXACT [OMIM:300990]
synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive" EXACT [OMIM:300990, OMIM:genemap2]
synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN" EXACT []
xref: DOID:0111859 {source="MONDO:equivalentTo"}
xref: MEDGEN:934777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300990 {source="MONDO:equivalentTo"}
xref: UMLS:C4310810 {source="MEDGEN:934777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010263 ! Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/467 {source="MONDO:mim2gene_medgen"} ! AMMECR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010517
name: ciliary dyskinesia, primary, 36, X-linked
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD36" EXACT ABBREVIATION [OMIM:300991]
synonym: "ciliary dyskinesia, primary, 36, with or without situs inversus" RELATED [OMIM:300991]
synonym: "ciliary dyskinesia, primary, 36, X-linked" EXACT [OMIM:300991]
synonym: "ciliary dyskinesia, primary, 36, X-linked, X-linked recessive" EXACT [OMIM:300991, OMIM:genemap2]
synonym: "ciliary dyskinesia, primary, 36, X-linked; CILD36" EXACT []
synonym: "PIH1D3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia caused by mutation in PIH1D3" EXACT [MONDO:design_pattern]
xref: DOID:0111850 {source="MONDO:equivalentTo"}
xref: GARD:15280 {source="MONDO:GARD"}
xref: MEDGEN:1393107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300991 {source="MONDO:equivalentTo"}
xref: UMLS:C4478372 {source="MEDGEN:1393107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:300991", source="MONDO:Redundant", source="OMIM:300991"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28570 ! DNAAF6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28570 {source="MONDO:mim2gene_medgen"} ! DNAAF6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010518
name: Wiskott-Aldrich syndrome
def: "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." [Orphanet:906]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7895", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:906"}
subset: orphanet_rare {source="Orphanet:906"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aldrich syndrome" RELATED [OMIM:301000]
synonym: "eczema thrombocytopenia immunodeficiency syndrome" RELATED [GARD:0007895]
synonym: "eczema-thrombocytopenia-immunodeficiency syndrome" EXACT [OMIM:301000, Orphanet:906]
synonym: "Imd 2" RELATED [GARD:0007895]
synonym: "immunodeficiency 2" EXACT [OMIM:301000]
synonym: "WAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301000, Orphanet:906]
synonym: "Wiskott Aldrich syndrome" EXACT [GARD:0007895]
synonym: "Wiskott syndrome" EXACT [DOID:9169]
synonym: "Wiskott-Aldrich syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:301000]
synonym: "Wiskott-Aldrich syndrome 1" EXACT [OMIM:301000]
synonym: "Wiskott-Aldrich syndrome, X-linked recessive" EXACT [OMIM:301000, OMIM:genemap2]
xref: DOID:9169 {source="MONDO:equivalentTo"}
xref: GARD:7895 {source="MONDO:GARD"}
xref: ICD10CM:D82.0 {source="Orphanet:906/e", source="Orphanet:906/specific", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"}
xref: ICD9:279.12 {source="DOID:9169"}
xref: MedDRA:10047992 {source="Orphanet:906/e", source="Orphanet:906"}
xref: MEDGEN:21921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014923 {source="Orphanet:906/e", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"}
xref: NANDO:1200330 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200704 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3448 {source="MONDO:equivalentTo", source="DOID:9169"}
xref: OMIM:301000 {source="Orphanet:906/e", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"}
xref: Orphanet:906 {source="OMIM:301000", source="MONDO:equivalentTo", source="OMIM:277970"}
xref: SCTID:36070007 {source="MONDO:equivalentTo", source="DOID:9169"}
xref: UMLS:C0043194 {source="MEDGEN:21921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="DOID:9169", source="MESH:D014923"} ! X-linked disease
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0015131 {source="NCIT:C3448"} ! combined immunodeficiency
is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C3448", source="Orphanet:906/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0021094 {source="OMIM:301000"} ! immunodeficiency disease
is_a: MONDO:0021181 {source="MESH:D014923", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited blood coagulation disorder
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome" xsd:anyURI {source="GARD:0007895"}

[Term]
id: MONDO:0010519
name: alpha thalassemia-X-linked intellectual disability syndrome
def: "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal." [Orphanet:847]
comment: Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases.
subset: do_inheritance_inconsistent
subset: gard_rare {source="GARD:5864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:753"}
subset: ordo_disorder {source="Orphanet:847"}
subset: orphanet_rare {source="Orphanet:847"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked" RELATED [GARD:0005864]
synonym: "Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked" RELATED DEPRECATED [GARD:0005864]
synonym: "Alpha Thalassemia X-linked Intellectual Disability Syndrome" EXACT [NORD:753]
synonym: "Alpha thalassemia X-linked intellectual disability syndrome" EXACT [NCIT:C118631]
synonym: "Alpha thalassemia X-linked mental retardation syndrome" EXACT DEPRECATED [NCIT:C118631]
synonym: "alpha thalassemia-X-linked intellectual disability syndrome" EXACT CLINGEN_LABEL []
synonym: "Alpha thalassemia/intellectual disability syndrome X-linked" EXACT [NCIT:C118631]
synonym: "Alpha thalassemia/mental retardation syndrome X-linked" EXACT DEPRECATED [NCIT:C118631]
synonym: "Alpha-thalassemia X-linked intellectual disability syndrome" RELATED [GARD:0005864]
synonym: "Alpha-thalassemia-X-linked intellectual disability syndrome" RELATED [Orphanet:847]
synonym: "alpha-thalassemia/intellectual disability syndrome nondeletion type" EXACT [DOID:0110030]
synonym: "Alpha-thalassemia/intellectual disability syndrome, Nondeletion type" RELATED [OMIM:301040]
synonym: "ALPHA-thalassemia/intellectual disability syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:301040]
synonym: "alpha-thalassemia/mental retardation syndrome nondeletion type" EXACT DEPRECATED [DOID:0110030]
synonym: "Alpha-thalassemia/mental retardation syndrome, Nondeletion type" RELATED DEPRECATED [OMIM:301040]
synonym: "ALPHA-thalassemia/mental retardation syndrome, X-linked" RELATED DEPRECATED [MONDO:Lexical, OMIM:301040]
synonym: "alpha-thalassemia/mental retardation syndrome, X-linked dominant" EXACT [OMIM:301040, OMIM:genemap2]
synonym: "ATR, Nondeletion type" RELATED [OMIM:301040]
synonym: "ATR, nondeletion type" EXACT [DOID:0110030]
synonym: "ATR-X syndrome" EXACT [DOID:0110030, OMIM:301040, Orphanet:847]
synonym: "ATRX" RELATED DEPRECATED [MONDO:Lexical, OMIM:301040]
synonym: "ATRX syndrome" RELATED [GARD:0005864]
synonym: "XLMR hypotonic face syndrome" RELATED [GARD:0005864]
xref: DOID:0110030 {source="MONDO:equivalentTo"}
xref: GARD:5864 {source="MONDO:GARD"}
xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:847", source="DOID:0110030", source="Orphanet:847/attributed", source="Orphanet:847/ntbt"}
xref: MEDGEN:337145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538258 {source="MONDO:equivalentTo"}
xref: NANDO:1200665 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100223 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200839 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118631 {source="MONDO:equivalentTo"}
xref: NORD:753 {source="MONDO:NORD"}
xref: OMIM:301040 {source="MONDO:equivalentTo", source="Orphanet:847", source="DOID:0110030", source="Orphanet:847/e"}
xref: Orphanet:847 {source="MONDO:equivalentTo", source="DOID:0110030", source="OMIM:301040"}
xref: SCTID:715342005 {source="MONDO:equivalentTo"}
xref: UMLS:C1845055 {source="MEDGEN:337145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118631", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome
is_a: MONDO:0020040 ! 46,XY disorder of sex development
is_a: MONDO:0020119 {source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome" xsd:anyURI {source="GARD:0005864"}

[Term]
id: MONDO:0010520
name: X-linked Alport syndrome
def: "X-linked form of Alport syndrome." [MONDO:patterns/x_linked]
subset: gard_rare {source="GARD:16774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:88917"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88917"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alport syndrome 1, X-linked, X-linked dominant" EXACT [OMIM:301050, OMIM:genemap2]
synonym: "Alport syndrome, X-linked" EXACT [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:301050]
synonym: "ATS" RELATED ABBREVIATION [DOID:0110034, MONDO:Lexical, OMIM:301050]
synonym: "congenital hereditary hematuria" RELATED [GARD:0005785]
synonym: "hemorrhagic familial nephritis" RELATED [GARD:0005785]
synonym: "hemorrhagic hereditary nephritis" RELATED [GARD:0005785]
synonym: "nephropathy and deafness, X-linked" EXACT [DOID:0110034, OMIM:301050]
synonym: "X-linked Alport syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0110034 {source="MONDO:equivalentTo"}
xref: GARD:16774 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:88917", source="Orphanet:88917/attributed", source="Orphanet:88917/ntbt"}
xref: MedDRA:10001843 {source="Orphanet:88917/e", source="Orphanet:88917"}
xref: MEDGEN:1648433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301050 {source="Orphanet:88917/e", source="MONDO:equivalentTo", source="Orphanet:88917", source="DOID:0110034"}
xref: Orphanet:63 {source="OMIM:301050"}
xref: Orphanet:88917 {source="MONDO:equivalentTo", source="DOID:0110034", source="OMIM:301050"}
xref: SCTID:717768004 {source="MONDO:equivalentTo"}
xref: UMLS:C4746986 {source="MEDGEN:1648433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0018965 {source="DC-OMIM:301050", source="DOID:0110034", source="MONDO:Redundant", source="Orphanet:88917"} ! Alport syndrome
intersection_of: MONDO:0018965 ! Alport syndrome
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:301050"} ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2207 {source="MONDO:mim2gene_medgen"} ! COL4A5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010521
name: amelogenesis imperfecta type 1E
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9943", source="MONDO:GARD"}
subset: rare
synonym: "AI1E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:301200]
synonym: "AIH1" EXACT ABBREVIATION [DOID:0110058, GARD:0009943]
synonym: "amelogenesis imperfecta caused by mutation in AMELX" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT [DOID:0110058]
synonym: "amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1" RELATED [GARD:0009943]
synonym: "amelogenesis imperfecta type IE" EXACT [DOID:0110058]
synonym: "amelogenesis imperfecta X-linked 1" RELATED [GARD:0009943]
synonym: "amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth" RELATED [OMIM:301200]
synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1" RELATED [OMIM:301200]
synonym: "amelogenesis imperfecta, type 1E" RELATED [OMIM:301200]
synonym: "amelogenesis imperfecta, type 1E, X-linked dominant" EXACT [OMIM:301200, OMIM:genemap2]
synonym: "amelogenesis imperfecta, type IE" RELATED [MONDO:Lexical, OMIM:301200]
synonym: "amelogenesis imperfecta, X-linked 1" RELATED [OMIM:301200]
synonym: "AMELX amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "enamel hypoplasia X-linked" RELATED [GARD:0009943]
synonym: "enamel hypoplasia, X-linked" RELATED [OMIM:301200]
synonym: "X-linked amelogenesis imperfecta 1" EXACT [DOID:0110058]
synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1" EXACT [DOID:0110058]
synonym: "X-linked enamel hypoplasia" RELATED [DOID:0110058]
xref: DOID:0110058 {source="MONDO:equivalentTo"}
xref: GARD:9943 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110058"}
xref: MEDGEN:336847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301200 {source="GARD:0009943", source="MONDO:equivalentTo", source="DOID:0110058"}
xref: Orphanet:100033 {source="OMIM:301200"}
xref: UMLS:C1845053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336847"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2
is_a: MONDO:0019507 {source="DOID:0110058", source="MONDO:Redundant", source="OMIM:301200", source="Orphanet:88661/btnt"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/461 ! AMELX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/461 {source="MONDO:mim2gene_medgen"} ! AMELX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-1" xsd:anyURI {source="GARD:0009943"}

[Term]
id: MONDO:0010522
name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
def: "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." [DOID:0110059, PMID:1358807]
subset: gard_rare {source="GARD:9944", source="MONDO:GARD"}
subset: rare
synonym: "AIH3" EXACT ABBREVIATION [DOID:0110059]
synonym: "AIH3 (formerly)" RELATED [GARD:0009944]
synonym: "amelogenesis imperfecta 3 hypoplastic type" EXACT DEPRECATED [DOID:0110059]
synonym: "amelogenesis imperfecta 3, hypoplastic type" RELATED DEPRECATED [OMIM:301201]
synonym: "amelogenesis imperfecta 3, hypoplastic type (formerly)" RELATED [GARD:0009944]
synonym: "amelogenesis imperfecta 3, hypoplastic type, formerly" RELATED DEPRECATED [OMIM:301201]
synonym: "amelogenesis imperfecta type IE X-linked 2" EXACT [DOID:0110059]
synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2" RELATED [OMIM:301201]
synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2" EXACT [MONDORULE:1, OMIM:301201]
synonym: "amelogenesis imperfecta, type IE, X-linked 2" EXACT [OMIM:301201, OMIM:genemap2]
synonym: "enamel hypoplasia, X-linked" RELATED [OMIM:301201]
synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2" EXACT [DOID:0110059, MONDORULE:1]
synonym: "X-linked enamel hypoplasia" RELATED [DOID:0110059]
xref: DOID:0110059 {source="MONDO:equivalentTo"}
xref: GARD:9944 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110059"}
xref: MEDGEN:336845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301201 {source="MONDO:equivalentTo", source="DOID:0110059"}
xref: Orphanet:100031 {source="OMIM:301201"}
xref: UMLS:C1845051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336845"}
is_a: MONDO:0019507 {source="DOID:0110059", source="MONDO:Redundant", source="OMIM:301201"} ! amelogenesis imperfecta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010523
name: X-linked reticulate pigmentary disorder
def: "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." [Orphanet:85453]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:16756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85453"}
subset: orphanet_rare {source="Orphanet:85453"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis, familial cutaneous" RELATED [OMIM:301220]
synonym: "familial cutaneous amyloidosis" EXACT [Orphanet:85453]
synonym: "Partington disease" EXACT [Orphanet:85453]
synonym: "PDR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301220, Orphanet:85453]
synonym: "pigmentary disorder, reticulate, with systemic manifestations" RELATED [MONDO:Lexical, OMIM:301220]
synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked" RELATED [OMIM:301220]
synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive" EXACT [OMIM:301220, OMIM:genemap2]
synonym: "X-linked cutaneous amyloidosis" EXACT [Orphanet:85453]
synonym: "XLPDR" EXACT ABBREVIATION [Orphanet:85453]
xref: DOID:0111834 {source="MONDO:equivalentTo"}
xref: GARD:16756 {source="MONDO:GARD"}
xref: ICD10EXP:E85.0+ {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"}
xref: ICD10EXP:L99.0* {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"}
xref: MEDGEN:336844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564461 {source="MONDO:equivalentTo"}
xref: OMIM:301220 {source="Orphanet:85453", source="MONDO:equivalentTo", source="Orphanet:85453/e"}
xref: Orphanet:85453 {source="OMIM:301220", source="MONDO:equivalentTo"}
xref: SCTID:717224002 {source="MONDO:equivalentTo"}
xref: UMLS:C1845050 {source="MEDGEN:336844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005093 {source="Orphanet:85453", source="Orphanet:85453/inferred"} ! skin disorder
is_a: MONDO:0957408 {source="Orphanet:85453", source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9173 {source="MONDO:mim2gene_medgen"} ! POLA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0010524
name: X-linked sideroblastic anemia with ataxia
def: "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." [Orphanet:2802]
subset: gard_rare {source="GARD:668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2802"}
subset: orphanet_rare {source="Orphanet:2802"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaemia sideroblastic and spinocerebellar ataxia" EXACT OMO:0003005 []
synonym: "anemia sideroblastic and spinocerebellar ataxia" EXACT [DOID:0050554]
synonym: "anemia, Sex-linked hypochromic Siderobla" RELATED [MESH:C536358]
synonym: "anemia, sideroblastic, and spinocerebellar ataxia" RELATED [MESH:C536358, MONDO:Lexical, OMIM:301310]
synonym: "anemia, sideroblastic, with ataxia, X-linked recessive" EXACT [OMIM:301310, OMIM:genemap2]
synonym: "ASAT" EXACT ABBREVIATION [DOID:0060064, MESH:C536358, MONDO:Lexical, OMIM:301310]
synonym: "Pagon Bird Detter syndrome" RELATED [MESH:C536358]
synonym: "Pagon-Bird-Detter syndrome" EXACT [Orphanet:2802]
synonym: "sideroblastic anaemia with spinocerebellar ataxia" EXACT OMO:0003005 []
synonym: "sideroblastic anemia with spinocerebellar ataxia" EXACT [MESH:C536358, MONDO:0000609]
synonym: "X-linked sideroblastic Anaemia and ataxia" RELATED OMO:0003005 []
synonym: "X-linked sideroblastic anaemia and ataxia" EXACT OMO:0003005 []
synonym: "X-linked sideroblastic anaemia and spinocerebellar ataxia" RELATED OMO:0003005 []
synonym: "X-linked sideroblastic anaemia with spinocerebellar ataxia" EXACT OMO:0003005 []
synonym: "X-linked sideroblastic Anemia and ataxia" RELATED [MESH:C536358]
synonym: "X-linked sideroblastic anemia and ataxia" EXACT [DOID:0050554]
synonym: "X-linked sideroblastic anemia and spinocerebellar ataxia" RELATED [Orphanet:2802]
synonym: "X-linked sideroblastic anemia with ataxia" EXACT [Orphanet:2802]
synonym: "X-linked sideroblastic anemia with spinocerebellar ataxia" EXACT []
synonym: "XLSA-A" EXACT [Orphanet:2802]
synonym: "Xlsa-A" RELATED [MESH:C536358]
xref: DOID:0050554 {source="MONDO:equivalentTo"}
xref: DOID:0060064 {source="MONDO:equivalentObsolete"}
xref: GARD:668 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:2802/attributed", source="Orphanet:2802/ntbt", source="Orphanet:2802"}
xref: MEDGEN:335078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536358 {source="MONDO:equivalentTo"}
xref: OMIM:301310 {source="Orphanet:2802/e", source="DOID:0050554", source="MONDO:equivalentTo", source="Orphanet:2802"}
xref: Orphanet:2802 {source="OMIM:301310", source="MONDO:equivalentTo"}
xref: SCTID:719816006 {source="MONDO:equivalentTo"}
xref: UMLS:C1845028 {source="MEDGEN:335078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015194 {source="DOID:0050554", source="DOID:0060064", source="MESH:C536358", source="MONDO:Redundant", source="Orphanet:2802/inferred"} ! sideroblastic anemia
is_a: MONDO:0016612 {source="Orphanet:2802"} ! X-linked cerebellar ataxia
is_a: MONDO:0020099 {source="Orphanet:2802"} ! inherited sideroblastic anemia
is_a: MONDO:0044970 {source="OMIM:301310"} ! mitochondrial disease
relationship: excluded_subClassOf MONDO:0020721 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked sideroblastic anemia 1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/48 {source="MONDO:mim2gene_medgen"} ! ABCB7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010525
name: neural tube defects, X-linked
subset: gard_rare {source="GARD:669", source="MONDO:GARD"}
subset: rare
synonym: "anencephaly and spina bifida X-linked" RELATED [GARD:0000669]
synonym: "neural tube defects, X-linked" EXACT [OMIM:301410]
synonym: "spina bifida, X-linked" RELATED [OMIM:301410]
synonym: "X-linked anencephaly/spina bifida" RELATED [GARD:0000669]
xref: GARD:669 {source="MONDO:GARD"}
xref: MEDGEN:337140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536359 {source="MONDO:equivalentTo"}
xref: OMIM:301410 {source="MONDO:equivalentTo", source="GARD:0000669"}
xref: Orphanet:268357 {source="OMIM:301410"}
xref: Orphanet:823 {source="OMIM:301410"}
xref: UMLS:C1845026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337140"}
is_a: MONDO:0019351 {source="Orphanet:823/btnt"} ! isolated spina bifida
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked" xsd:anyURI {source="GARD:0000669"}

[Term]
id: MONDO:0010526
name: Fabry disease
def: "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." [Orphanet:324]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1115"}
subset: ordo_disorder {source="Orphanet:324"}
subset: orphanet_rare {source="Orphanet:324"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha galactosidase deficiency" EXACT [DOID:14499]
synonym: "Alpha-galactosidase A deficiency" EXACT [DOID:14499, Orphanet:324]
synonym: "Anderson-Fabry disease" EXACT [OMIM:301500, Orphanet:324]
synonym: "angiokeratoma corporis diffusum" EXACT [DOID:14499, NCIT:C27528, OMIM:301500, Orphanet:324]
synonym: "angiokeratoma, diffuse" RELATED [GARD:0006400]
synonym: "ceramide trihexosidase deficiency" RELATED [OMIM:301500]
synonym: "deficiency of melibiase" EXACT [DOID:14499]
synonym: "diffuse angiokeratoma" EXACT [Orphanet:324]
synonym: "Fabry disease" EXACT CLINGEN_LABEL [OMIM:301500]
synonym: "Fabry disease, Cardiac variant" RELATED [OMIM:301500]
synonym: "Fabry's disease" EXACT [DOID:14499]
synonym: "Fd" EXACT [Orphanet:324]
synonym: "Gla deficiency" RELATED [OMIM:301500]
synonym: "hereditary dystopic lipidosis" RELATED [OMIM:301500]
xref: DOID:14499 {source="MONDO:equivalentTo"}
xref: GARD:6400 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:324", source="Orphanet:324/ntbt", source="Orphanet:324/inclusion"}
xref: ICD10CM:E75.21 {source="DOID:14499"}
xref: icd11.foundation:66996647 {source="Orphanet:324", source="MONDO:equivalentTo"}
xref: MedDRA:10016016 {source="Orphanet:324", source="Orphanet:324/e"}
xref: MEDGEN:8083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000795 {source="Orphanet:324", source="MONDO:equivalentTo", source="Orphanet:324/e", source="DOID:14499"}
xref: NANDO:1200157 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200563 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27528 {source="MONDO:otherHierarchy", source="DOID:14499"}
xref: NCIT:C84701 {source="MONDO:equivalentTo", source="DOID:14499"}
xref: NORD:1115 {source="MONDO:NORD"}
xref: OMIM:301500 {source="Orphanet:324", source="MONDO:equivalentTo", source="Orphanet:324/e", source="DOID:14499"}
xref: Orphanet:324 {source="MONDO:equivalentTo", source="OMIM:301500"}
xref: SCTID:124464003 {source="DOID:14499"}
xref: SCTID:16652001 {source="MONDO:equivalentTo", source="DOID:14499"}
xref: SCTID:190792005 {source="DOID:14499"}
xref: SCTID:190796008 {source="DOID:14499"}
xref: SCTID:236536000 {source="DOID:14499"}
xref: UMLS:C0002986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8083"}
is_a: MONDO:0002561 {source="DOID:14499/inferred", source="MESH:D000795/inferred", source="MONDO:Redundant", source="NCIT:C84701", source="Orphanet:324/inferred", source="PMID:21723623"} ! lysosomal storage disease
is_a: MONDO:0015327 {source="Orphanet:324"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019255 {source="DOID:14499", source="MESH:D000795", source="MONDO:0018299-obsoleted", source="NCIT:C84701", source="Orphanet:324"} ! sphingolipidosis
relationship: disease_has_basis_in_disruption_of GO:0004557 ! alpha-galactosidase activity
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: disease_has_feature MONDO:0005066 ! metabolic disease
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0016340 {source="https://orcid.org/0000-0001-5208-3432"} ! familial restrictive cardiomyopathy
relationship: excluded_subClassOf MONDO:0019293 {source="Orphanet:324", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease
relationship: excluded_subClassOf MONDO:0019520 {source="Orphanet:324", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic lymphedema
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:324", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4296 {source="MONDO:mim2gene_medgen"} ! GLA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0010527
name: obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome
xref: OMIM:301590 {source="Orphanet:85275/e", source="GARD:0005066", source="Orphanet:85275", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3803" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010671

[Term]
id: MONDO:0010528
name: anosmia
def: "Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions." [MESH:D000857]
synonym: "anosmia" EXACT [MONDO:ambiguous, OMIM:301700]
synonym: "anosmia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0000458 {source="MONDO:otherHierarchy"}
xref: MEDGEN:1950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000857 {source="MONDO:equivalentTo"}
xref: SCTID:44169009 {source="MONDO:equivalentTo"}
xref: UMLS:C0003126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1950"}
is_a: MONDO:0002436 {source="https://orcid.org/0000-0001-5208-3432"} ! nasal disorder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3834" xsd:anyURI
property_value: IAO:0000589 "anosmia (disease)" xsd:string

[Term]
id: MONDO:0010529
name: X-linked spinocerebellar ataxia type 3
def: "A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait." [Orphanet:85297]
subset: gard_rare {source="GARD:9981", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85297"}
subset: ordo_malformation_syndrome {source="Orphanet:85297"}
subset: orphanet_rare {source="Orphanet:85297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia-deafness syndrome X-linked" RELATED [GARD:0009981]
synonym: "ataxia-deafness syndrome, X-linked" RELATED [OMIM:301790]
synonym: "SCAX3" EXACT ABBREVIATION [Orphanet:85297]
synonym: "Scax3" RELATED [OMIM:301790]
synonym: "spinocerebellar ataxia X-linked type 3" RELATED [GARD:0009981]
synonym: "spinocerebellar ataxia, X-linked 3" RELATED [OMIM:301790]
synonym: "spinocerebellar ataxia, X-linked type 3" EXACT [MONDORULE:1, OMIM:301790]
synonym: "X-linked ataxia-deafness syndrome" EXACT [Orphanet:85297]
xref: DOID:0111831 {source="MONDO:equivalentTo"}
xref: GARD:9981 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:85297/attributed", source="Orphanet:85297/ntbt", source="Orphanet:85297"}
xref: MEDGEN:337124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537315 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"}
xref: OMIM:301790 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"}
xref: Orphanet:85297 {source="OMIM:301790", source="MONDO:equivalentTo"}
xref: SCTID:719817002 {source="MONDO:equivalentTo"}
xref: UMLS:C1844936 {source="MEDGEN:337124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016612 {source="Orphanet:85297"} ! X-linked cerebellar ataxia
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85297", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3" xsd:anyURI {source="GARD:0009981"}

[Term]
id: MONDO:0010530
name: obsolete anus, imperforate
is_obsolete: true
replaced_by: MONDO:0001046

[Term]
id: MONDO:0010531
name: contractures-ectodermal dysplasia-cleft lip/palate syndrome
def: "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." [Orphanet:1484]
subset: gard_rare {source="GARD:1515", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1484"}
subset: ordo_malformation_syndrome {source="Orphanet:1484"}
subset: orphanet_rare {source="Orphanet:1484"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay" RELATED [OMIM:301815]
synonym: "congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment" RELATED [GARD:0001515]
synonym: "contractures ectodermal dysplasia cleft lip palate" RELATED [GARD:0001515]
synonym: "Ladda Zonana Ramer syndrome" RELATED [GARD:0001515]
synonym: "Ladda-Zonana-Ramer syndrome" EXACT [Orphanet:1484]
xref: GARD:1515 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1484", source="Orphanet:1484/attributed", source="Orphanet:1484/ntbt"}
xref: MEDGEN:375546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535465 {source="Orphanet:1484", source="Orphanet:1484/e"}
xref: MESH:C538135 {source="Orphanet:1484", source="Orphanet:1484/e"}
xref: OMIM:301815 {source="Orphanet:1484", source="MONDO:equivalentTo", source="Orphanet:1484/e"}
xref: Orphanet:1484 {source="MONDO:equivalentTo", source="OMIM:301815"}
xref: SCTID:720746006 {source="MONDO:equivalentTo"}
xref: UMLS:C1844935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375546"}
is_a: MONDO:0019287 {source="Orphanet:1484"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1484", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010532
name: infantile-onset X-linked spinal muscular atrophy
def: "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." [Orphanet:1145]
subset: gard_rare {source="GARD:8521", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1145"}
subset: orphanet_rare {source="Orphanet:1145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMC, distal, X-linked" RELATED [OMIM:301830]
synonym: "arthrogryposis multiplex congenita, distal, X-linked" RELATED [OMIM:301830]
synonym: "arthrogryposis, X-linked, type 1" RELATED [OMIM:301830]
synonym: "SMAX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301830, Orphanet:1145]
synonym: "spinal muscular atrophy with arthrogryposis" EXACT [Orphanet:1145]
synonym: "spinal muscular atrophy, infantile X-linked" RELATED [OMIM:301830]
synonym: "spinal muscular atrophy, X-linked 2" RELATED [MONDO:Lexical, OMIM:301830]
synonym: "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive" EXACT [OMIM:301830, OMIM:genemap2]
synonym: "spinal muscular atrophy, X-linked lethal infantile" RELATED [OMIM:301830]
synonym: "spinal muscular atrophy, X-linked type 2" EXACT [MONDORULE:1, OMIM:301830]
synonym: "X-linked distal arthrogryposis multiplex congenita" EXACT [Orphanet:1145]
synonym: "X-linked spinal muscular atrophy type 2" EXACT [Orphanet:1145]
xref: DOID:0111827 {source="MONDO:equivalentTo"}
xref: GARD:8521 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:1145", source="Orphanet:1145/attributed", source="Orphanet:1145/ntbt"}
xref: MEDGEN:337123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535380 {source="Orphanet:1145", source="MONDO:equivalentTo", source="Orphanet:1145/e"}
xref: OMIM:301830 {source="Orphanet:1145", source="MONDO:equivalentTo", source="Orphanet:1145/e"}
xref: Orphanet:1145 {source="MONDO:equivalentTo", source="OMIM:301830"}
xref: SCTID:719836007 {source="MONDO:equivalentTo"}
xref: UMLS:C1844934 {source="MEDGEN:337123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DC-OMIM:301830"} ! spinal muscular atrophy
is_a: MONDO:0015168 {source="Orphanet:1145"} ! arthrogryposis multiplex congenita
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12469 {source="MONDO:mim2gene_medgen"} ! UBA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010533
name: Arts syndrome
def: "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." [Orphanet:1187]
subset: gard_rare {source="GARD:8756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1187"}
subset: orphanet_rare {source="Orphanet:1187"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arts" EXACT [DOID:0050647, MONDO:Lexical, OMIM:301835]
synonym: "Arts syndrome" EXACT [MONDO:Lexical, OMIM:301835, Orphanet:1187]
synonym: "Arts syndrome, X-linked recessive" EXACT [OMIM:301835, OMIM:genemap2]
synonym: "ataxia, fatal X-linked, with deafness and loss of vision" RELATED [OMIM:301835]
synonym: "fatal X-linked ataxia with deafness and loss of vision" EXACT [DOID:0050647]
synonym: "intellectual disability, X-linked, syndromic 18" RELATED [OMIM:301835]
synonym: "intellectual disability, X-linked, syndromic, Arts type" RELATED [OMIM:301835]
synonym: "lethal ataxia with deafness and optic atrophy" EXACT [DOID:0050647]
synonym: "lethal ataxia-deafness-optic atrophy" RELATED [GARD:0008756]
synonym: "mental retardation, X-linked, syndromic 18" RELATED DEPRECATED [OMIM:301835]
synonym: "mental retardation, X-linked, syndromic, Arts type" RELATED DEPRECATED [OMIM:301835]
synonym: "MRXS18" EXACT ABBREVIATION [DOID:0050647]
synonym: "MRXSARTS" EXACT ABBREVIATION [DOID:0050647]
synonym: "syndromic X-linked intellectual disability 18" EXACT [DOID:0050647]
synonym: "syndromic X-linked intellectual disability Arts type" EXACT [DOID:0050647]
synonym: "syndromic X-linked mental retardation 18" EXACT DEPRECATED [DOID:0050647]
synonym: "syndromic X-linked mental retardation Arts type" EXACT DEPRECATED [DOID:0050647]
synonym: "X-linked fatal ataxia with deafness and loss of vision" RELATED [GARD:0008756]
xref: DOID:0050647 {source="MONDO:equivalentTo"}
xref: GARD:8756 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:1187", source="Orphanet:1187/attributed", source="Orphanet:1187/ntbt", source="DOID:0050647"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535388 {source="Orphanet:1187", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="DOID:0050647"}
xref: OMIM:301835 {source="Orphanet:1187", source="MONDO:equivalentTo", source="Orphanet:1187/e", source="DOID:0050647"}
xref: Orphanet:1187 {source="MONDO:equivalentTo", source="DOID:0050647", source="OMIM:301835"}
xref: SCTID:702441001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163205"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0016612 {source="Orphanet:1187", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked cerebellar ataxia
relationship: excluded_subClassOf MONDO:0019236 {source="Orphanet:1187", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of purine metabolism
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:301835", source="DOID:0050647", source="OMIM:301835", source="Orphanet:1187", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 {source="MONDO:mim2gene_medgen"} ! PRPS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome" xsd:anyURI {source="GARD:0008756"}

[Term]
id: MONDO:0010534
name: X-linked spinocerebellar ataxia type 4
def: "Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life." [Orphanet:85292]
subset: gard_rare {source="GARD:9980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85292"}
subset: orphanet_rare {source="Orphanet:85292"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia-dementia syndrome X-linked" RELATED [GARD:0009980]
synonym: "ataxia-dementia syndrome, X-linked" RELATED [OMIM:301840]
synonym: "SCAX4" EXACT ABBREVIATION [Orphanet:85292]
synonym: "Scax4" RELATED [OMIM:301840]
synonym: "spinocerebellar ataxia X-linked type 4" RELATED [GARD:0009980]
synonym: "spinocerebellar ataxia, X-linked 4" RELATED [OMIM:301840]
synonym: "spinocerebellar ataxia, X-linked type 4" EXACT [MONDORULE:1, OMIM:301840]
synonym: "X-linked ataxia-dementia syndrome" EXACT [Orphanet:85292]
xref: DOID:0111832 {source="MONDO:equivalentTo"}
xref: GARD:9980 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:85292/attributed", source="Orphanet:85292/ntbt", source="Orphanet:85292"}
xref: MEDGEN:337122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537316 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"}
xref: OMIM:301840 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"}
xref: Orphanet:85292 {source="MONDO:equivalentTo", source="OMIM:301840"}
xref: SCTID:719818007 {source="MONDO:equivalentTo"}
xref: UMLS:C1844933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337122"}
is_a: MONDO:0016612 {source="Orphanet:85292"} ! X-linked cerebellar ataxia
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85292", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4" xsd:anyURI {source="GARD:0009980"}

[Term]
id: MONDO:0010535
name: Bazex-Dupre-Christol syndrome
def: "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas." [Orphanet:113]
subset: gard_rare {source="GARD:838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166113", source="Orphanet:113"}
subset: orphanet_rare {source="Orphanet:166113", source="Orphanet:113"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrokeratosis of Bazex" EXACT [Orphanet:166113]
synonym: "acrokeratosis paraneoplastica" EXACT [Orphanet:166113]
synonym: "acrokeratosis paraneoplastica of Bazex" EXACT [Orphanet:166113]
synonym: "Bazex syndrome" EXACT [MONDO:Lexical, OMIM:301845]
synonym: "Bazex syndrome, X-linked dominant" EXACT [OMIM:301845, OMIM:genemap2]
synonym: "Bazex-Dupre-Christol syndrome" EXACT [OMIM:301845]
synonym: "Bazex-Dupré-Christol syndrome" EXACT [Orphanet:113]
synonym: "BDCS" EXACT ABBREVIATION [Orphanet:113]
synonym: "BZX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:301845]
synonym: "follicular atrophoderma and basal cell carcinomas" EXACT [OMIM:301845, Orphanet:113]
synonym: "follicular atrophoderma-basal cell carcinoma syndrome" RELATED [GARD:0000838]
synonym: "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" RELATED [GARD:0000838]
xref: GARD:838 {source="MONDO:GARD"}
xref: ICD10CM:L98.8 {source="Orphanet:113/attributed", source="Orphanet:113/ntbt", source="Orphanet:113"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537663 {source="Orphanet:113/e", source="Orphanet:113"}
xref: OMIM:301845 {source="Orphanet:113/e", source="MONDO:equivalentTo", source="Orphanet:113"}
xref: Orphanet:113 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:301845"}
xref: Orphanet:166113 {source="MONDO:equivalentTo"}
xref: SCTID:238640007 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:254820002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346104 {source="MEDGEN:87539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:113", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:113", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: excluded_subClassOf MONDO:0020175 {source="Orphanet:113", source="https://orcid.org/0000-0001-5208-3432"} ! malignant tumor of palpebral epidermis
relationship: excluded_subClassOf MONDO:0020188 {source="Orphanet:113", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital absence of the eyebrow/eyelashes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010536
name: tubulin, beta
synonym: "tubulin, beta" EXACT [OMIM:301850]
xref: MEDGEN:854410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301850 {source="MONDO:equivalentTo"}
xref: UMLS:C3887557 {source="MEDGEN:854410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010537
name: Borjeson-Forssman-Lehmann syndrome
def: "A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." [Orphanet:127]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:936", source="MONDO:GARD"}
subset: nord_rare {source="NORD:866", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:127"}
subset: ordo_malformation_syndrome {source="Orphanet:127"}
subset: orphanet_rare {source="Orphanet:127"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BFLS" EXACT ABBREVIATION [DOID:0050681, MONDO:Lexical, OMIM:301900, Orphanet:127]
synonym: "BORJ" EXACT ABBREVIATION [DOID:0050681]
synonym: "Borjeson syndrome" EXACT [DOID:0050681, OMIM:301900]
synonym: "Borjeson-FORSSMAN-Lehmann syndrome" RELATED [OMIM:301900]
synonym: "Borjeson-Forssman-Lehmann syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:301900]
synonym: "Borjeson-Forssman-Lehmann syndrome, X-linked recessive" EXACT [OMIM:301900, OMIM:genemap2]
synonym: "Börjeson-Forssman-Lehman Syndrome" EXACT [NORD:866]
synonym: "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT [DOID:0050681]
synonym: "intellectual disability, epilepsy, and endocrine disorder" EXACT [DOID:0050681]
synonym: "intellectual disability, epilepsy, and endocrine disorders" RELATED [OMIM:301900]
synonym: "intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED [OMIM:301900]
synonym: "intellectual disability-epilepsy-endocrine disorders syndrome" EXACT [Orphanet:127]
synonym: "mental deficiency, epilepsy and endocrine disorders" RELATED [GARD:0000936]
synonym: "mental retardation, epilepsy, and endocrine disorder" EXACT DEPRECATED [DOID:0050681]
synonym: "mental retardation, epilepsy, and endocrine disorders" RELATED DEPRECATED [OMIM:301900]
synonym: "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED DEPRECATED [OMIM:301900]
synonym: "MRXSBFL" EXACT ABBREVIATION [DOID:0050681]
synonym: "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type" EXACT [DOID:0050681]
synonym: "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" EXACT DEPRECATED [DOID:0050681]
xref: DOID:0050681 {source="MONDO:equivalentTo"}
xref: GARD:936 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:127/attributed", source="Orphanet:127/ntbt", source="Orphanet:127", source="DOID:0050681"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536575 {source="Orphanet:127", source="MONDO:equivalentTo", source="Orphanet:127/e", source="DOID:0050681"}
xref: NORD:866 {source="MONDO:NORD"}
xref: OMIM:301900 {source="Orphanet:127", source="MONDO:equivalentTo", source="Orphanet:127/e", source="DOID:0050681"}
xref: Orphanet:127 {source="MONDO:equivalentTo", source="OMIM:301900", source="DOID:0050681"}
xref: SCTID:21634003 {source="MONDO:equivalentTo", source="DOID:0050681"}
xref: UMLS:C0265339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78557"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:301900", source="DOID:0050681", source="OMIM:301900", source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020158 {source="MONDO:0020169-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyelids malposition disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18145 {source="MONDO:mim2gene_medgen"} ! PHF6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome" xsd:anyURI {source="GARD:0000936"}

[Term]
id: MONDO:0010538
name: Mononen-Karnes-Senac syndrome
def: "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested." [Orphanet:2565]
subset: gard_rare {source="GARD:4886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2565"}
subset: ordo_malformation_syndrome {source="Orphanet:2565"}
subset: orphanet_rare {source="Orphanet:2565"}
subset: rare
synonym: "brachydactyly Mononen type" RELATED [GARD:0004886]
synonym: "brachydactyly, Mononen type" RELATED [OMIM:301940]
synonym: "Mononen Karnes Senac syndrome" RELATED [GARD:0004886]
synonym: "Mononen type brachydactyly" EXACT [DOID:0110973]
synonym: "short and abducted thumbs and great toes" EXACT [DOID:0110973]
synonym: "skeletal dysplasia brachydactyly" RELATED [GARD:0004886]
synonym: "skeletal dysplasia-brachydactyly syndrome" EXACT [Orphanet:2565]
synonym: "thumbs and great toes short and abducted" RELATED [GARD:0004886]
synonym: "thumbs and great toes, short and abducted" RELATED [OMIM:301940]
xref: DOID:0110973 {source="MONDO:equivalentTo"}
xref: GARD:4886 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2565/attributed", source="Orphanet:2565/ntbt", source="DOID:0110973", source="Orphanet:2565"}
xref: MEDGEN:336815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535914 {source="DOID:0110973", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"}
xref: OMIM:301940 {source="DOID:0110973", source="GARD:0004886", source="Orphanet:2565", source="MONDO:equivalentTo", source="Orphanet:2565/e"}
xref: Orphanet:2565 {source="DOID:0110973", source="GARD:0004886", source="MONDO:equivalentTo", source="OMIM:301940"}
xref: SCTID:733095006 {source="MONDO:equivalentTo"}
xref: UMLS:C1844919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336815"}
is_a: MONDO:0019054 {source="Orphanet:2565", source="Orphanet:2565/inferred"} ! congenital limb malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type" xsd:anyURI {source="GARD:0004886"}

[Term]
id: MONDO:0010539
name: X-linked mandibulofacial dysostosis
def: "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." [Orphanet:1131]
subset: gard_rare {source="GARD:1002", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1131"}
subset: ordo_malformation_syndrome {source="Orphanet:1131"}
subset: orphanet_rare {source="Orphanet:1131"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "branchial arch syndrome X-linked" RELATED [GARD:0001002]
synonym: "branchial arch syndrome, X-linked" RELATED [OMIM:301950]
synonym: "mandibulofacial dysostosis Toriello type" RELATED [GARD:0001002]
synonym: "mandibulofacial dysostosis, Toriello type" EXACT [OMIM:301950, Orphanet:1131]
synonym: "mandibulofacial dysostosis, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "MFD Toriello type" RELATED [GARD:0001002]
synonym: "X-linked branchial arch syndrome" EXACT [Orphanet:1131]
synonym: "X-linked mandibulofacial dysostosis with limb anomalies" EXACT [Orphanet:1131]
xref: GARD:1002 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:1131", source="Orphanet:1131/attributed", source="Orphanet:1131/ntbt"}
xref: MEDGEN:375543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537102 {source="MONDO:equivalentTo"}
xref: OMIM:301950 {source="Orphanet:1131", source="MONDO:equivalentTo", source="Orphanet:1131/e"}
xref: Orphanet:1131 {source="MONDO:equivalentTo", source="OMIM:301950"}
xref: SCTID:719813003 {source="MONDO:equivalentTo"}
xref: UMLS:C1844918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375543"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
intersection_of: MONDO:0015483 ! mandibulofacial dysostosis
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:1131", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015334 {source="Orphanet:1131", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete branchial arch or oral-acral syndrome
relationship: excluded_subClassOf MONDO:0015483 {source="MESH:C537102", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! mandibulofacial dysostosis
relationship: excluded_subClassOf MONDO:0018237 {source="Orphanet:1131", source="https://orcid.org/0000-0001-5208-3432"} ! acrofacial dysostosis
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1131", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0010540
name: bullous dystrophy, macular type
def: "A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family." [Orphanet:1867]
subset: gard_rare {source="GARD:1038", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1867"}
subset: orphanet_rare {source="Orphanet:1867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bullous dystrophy hereditary macular type" RELATED [GARD:0001038]
synonym: "bullous dystrophy, hereditary macular type" RELATED [OMIM:302000]
synonym: "EBM" RELATED ABBREVIATION [GARD:0001038]
synonym: "epidermolysis bullosa macular type" RELATED [GARD:0001038]
synonym: "epidermolysis bullosa, macular type" RELATED [OMIM:302000]
xref: GARD:1038 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:1867/attributed", source="Orphanet:1867/ntbt", source="Orphanet:1867"}
xref: MEDGEN:167089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563065 {source="MONDO:equivalentTo"}
xref: OMIM:302000 {source="Orphanet:1867/e", source="GARD:0001038", source="MONDO:equivalentTo", source="Orphanet:1867"}
xref: Orphanet:1867 {source="OMIM:302000", source="GARD:0001038", source="MONDO:equivalentTo"}
xref: UMLS:C0795974 {source="MEDGEN:167089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1867", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type" xsd:anyURI {source="GARD:0001038"}

[Term]
id: MONDO:0010541
name: X-linked calvarial hyperostosis
subset: gard_rare {source="GARD:1058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391327"}
subset: orphanet_rare {source="Orphanet:391327"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "calvarial hyperostosis" RELATED [OMIM:302030]
synonym: "isolated hyperostosis of the calvarium" RELATED [GARD:0001058]
xref: GARD:1058 {source="MONDO:GARD"}
xref: ICD10CM:M85.2 {source="Orphanet:391327/attributed", source="Orphanet:391327/ntbt", source="Orphanet:391327"}
xref: MEDGEN:1674665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537963 {source="MONDO:equivalentTo"}
xref: OMIM:302030 {source="Orphanet:391327/e", source="MONDO:equivalentTo", source="Orphanet:391327"}
xref: Orphanet:391327 {source="MONDO:equivalentTo", source="OMIM:302030"}
xref: UMLS:C5190611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674665"}
is_a: MONDO:0002185 {source="https://orcid.org/0000-0001-5208-3432"} ! hyperostosis
relationship: disease_has_feature HP:0011001 {source="Orphanet:391327"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:391327", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density

[Term]
id: MONDO:0010542
name: dilated cardiomyopathy 3B
def: "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy, dilated, 3B" RELATED [MONDO:Lexical, OMIM:302045]
synonym: "cardiomyopathy, dilated, type 3B" EXACT [MONDORULE:4, OMIM:302045]
synonym: "cardiomyopathy, dilated, X-linked" RELATED [OMIM:302045]
synonym: "CMD3B" EXACT ABBREVIATION [DOID:0110461, MONDO:Lexical, OMIM:302045]
synonym: "dilated cardiomyopathy 3B" EXACT CLINGEN_LABEL []
synonym: "dilated cardiomyopathy caused by mutation in DMD" EXACT [MONDO:design_pattern]
synonym: "dilated cardiomyopathy type 3B" EXACT [DOID:0110461, MONDORULE:4]
synonym: "DMD dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DMD-related dilated cardiomyopathy" RELATED [DOID:0060561]
synonym: "X-linked dilated cardiomyopathy" RELATED [DOID:0110461]
xref: DOID:0060561 {source="MONDO:equivalentObsolete"}
xref: DOID:0081164 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0110461 {source="MONDO:equivalentTo"}
xref: GARD:15287 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110461"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:777148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580047 {source="DOID:0060561", source="MONDO:equivalentTo"}
xref: OMIM:302045 {source="MONDO:equivalentTo", source="DOID:0110461"}
xref: SCTID:702424003 {source="MONDO:equivalentTo"}
xref: UMLS:C3668940 {source="MEDGEN:777148", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005021 {source="DOID:0060561", source="DOID:0110461", source="MESH:C580047", source="MONDO:Redundant", source="OMIM:302045"} ! dilated cardiomyopathy
is_a: MONDO:0016147 ! qualitative or quantitative defects of dystrophin
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:302045"} ! familial dilated cardiomyopathy
intersection_of: MONDO:0005021 ! dilated cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 ! DMD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 {source="MONDO:mim2gene_medgen"} ! DMD

[Term]
id: MONDO:0010543
name: Barth syndrome
def: "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." [Orphanet:111]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:840"}
subset: ordo_disorder {source="Orphanet:111"}
subset: orphanet_rare {source="Orphanet:111"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-methylglutaconic aciduria type 2" EXACT [Orphanet:111]
synonym: "3-methylglutaconic aciduria type II" RELATED [GARD:0005890]
synonym: "3-Methylglutaconic aciduria, type 2" RELATED [OMIM:302060]
synonym: "3-Methylglutaconicaciduria type 2" EXACT [DOID:0050476]
synonym: "3-Methylglutaconicaciduria type II" EXACT [DOID:0050476]
synonym: "BARTH syndrome" RELATED [OMIM:302060]
synonym: "Barth syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:302060]
synonym: "Barth syndrome, X-linked recessive" EXACT [OMIM:302060, OMIM:genemap2]
synonym: "BTHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:302060, Orphanet:111]
synonym: "cardioskeletal myopathy with neutropenia and abnormal mitochondria" EXACT [Orphanet:111]
synonym: "cardioskeletal myopathy-neutropenia syndrome" EXACT [Orphanet:111]
synonym: "MGA type 2" EXACT [DOID:0050476]
synonym: "MGA type II" EXACT [DOID:0050476]
synonym: "Mga, type 2" RELATED [OMIM:302060]
synonym: "MGA2" EXACT ABBREVIATION [Orphanet:111]
synonym: "TAZ defect" RELATED [GARD:0005890]
synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT [Orphanet:111]
xref: DOID:0050476 {source="MONDO:equivalentTo"}
xref: GARD:5890 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:111/attributed", source="Orphanet:111/ntbt", source="Orphanet:111"}
xref: ICD10CM:E78.71 {source="DOID:0050476", source="MONDO:equivalentTo"}
xref: MEDGEN:107893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056889 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="Orphanet:111"}
xref: NANDO:1200991 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200751 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84585 {source="DOID:0050476", source="MONDO:equivalentTo"}
xref: NORD:840 {source="MONDO:NORD"}
xref: OMIM:302060 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="Orphanet:111"}
xref: Orphanet:111 {source="MONDO:equivalentTo", source="OMIM:302060"}
xref: SCTID:297231002 {source="DOID:0050476", source="MONDO:equivalentTo"}
xref: UMLS:C0574083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107893"}
is_a: MONDO:0002254 {source="NCIT:C84585"} ! syndromic disease
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0009637 {source="Orphanet:111"} ! inborn mitochondrial myopathy
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0017359 {source="DC-OMIM:302060", source="NCIT:C84585", source="OMIM:302060", source="Orphanet:111"} ! 3-methylglutaconic aciduria
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11577 {source="MONDO:mim2gene_medgen"} ! TAFAZZIN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome" xsd:anyURI {source="GARD:0005890"}

[Term]
id: MONDO:0010544
name: cataract 40
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 40" EXACT [MONDO:Lexical, OMIM:302200]
synonym: "cataract 40 with or without microcornea" EXACT [DOID:0110272, OMIM:302200]
synonym: "cataract 40 X-linked" EXACT [DOID:0110272]
synonym: "cataract 40, X-linked" RELATED [GARD:0008278]
synonym: "cataract congenital X-linked" RELATED [GARD:0008278]
synonym: "cataract type 40" EXACT [DOID:0110272, MONDORULE:2, OMIM:302200]
synonym: "cataract, congenital total, with posterior sutural opacities in heterozygotes" RELATED [OMIM:302200]
synonym: "cataract, congenital, with microcornea or slight microphthalmia" RELATED [GARD:0008278]
synonym: "cataract, congenital, X-linked" RELATED [OMIM:302200]
synonym: "CTRCT40" EXACT ABBREVIATION [DOID:0110272, MONDO:Lexical, OMIM:302200]
synonym: "early-onset non-syndromic cataract caused by mutation in NHS" EXACT [MONDO:design_pattern]
synonym: "NHS early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110272 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110272"}
xref: MEDGEN:886621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535338 {source="MONDO:equivalentTo"}
xref: OMIM:302200 {source="MONDO:equivalentTo", source="DOID:0110272"}
xref: Orphanet:91492 {source="OMIM:302200"}
xref: Orphanet:98991 {source="MONDO:relatedTo", source="OMIM:302200"}
xref: Orphanet:98994 {source="OMIM:302200", source="MONDO:directSiblingOf"}
xref: UMLS:C4049004 {source="MEDGEN:886621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110272", source="MESH:C535338", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:302200"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7820 ! NHS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7820 {source="MONDO:mim2gene_medgen"} ! NHS

[Term]
id: MONDO:0010545
name: Nance-Horan syndrome
def: "A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." [Orphanet:627]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1489"}
subset: ordo_disorder {source="Orphanet:627"}
subset: ordo_malformation_syndrome {source="Orphanet:627"}
subset: orphanet_rare {source="Orphanet:627"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract dental syndrome" RELATED [GARD:0007161]
synonym: "cataract X-linked with Hutchinsonian teeth" RELATED [GARD:0007161]
synonym: "cataract, X-linked, with Hutchinsonian teeth" RELATED [OMIM:302350]
synonym: "cataract-dental syndrome" RELATED [OMIM:302350]
synonym: "Mesiodens cataract syndrome" RELATED [GARD:0007161]
synonym: "Mesiodens-cataract syndrome" RELATED [OMIM:302350]
synonym: "Nance-Horan syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:302350]
synonym: "nance-horan syndrome, X-linked dominant" EXACT [OMIM:302350, OMIM:genemap2]
synonym: "NHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302350]
xref: DOID:0060599 {source="MONDO:equivalentTo"}
xref: GARD:7161 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/attributed", source="Orphanet:627/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:208665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538336 {source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"}
xref: NORD:1489 {source="MONDO:NORD"}
xref: OMIM:302350 {source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"}
xref: Orphanet:627 {source="OMIM:302350", source="MONDO:equivalentTo", source="DOID:0060599"}
xref: SCTID:445257004 {source="MONDO:equivalentTo"}
xref: UMLS:C0796085 {source="MEDGEN:208665", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:627", source="Orphanet:627/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:627", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:627", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7820 {source="MONDO:mim2gene_medgen"} ! NHS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome" xsd:anyURI {source="GARD:0007161"}

[Term]
id: MONDO:0010546
name: central incisors, absence of
synonym: "central incisors, absence of" EXACT [OMIM:302400]
xref: MEDGEN:337110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:302400 {source="MONDO:equivalentTo"}
xref: Orphanet:2227 {source="OMIM:302400"}
xref: UMLS:C1844886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337110"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010547
name: X-linked progressive cerebellar ataxia
subset: gard_rare {source="GARD:16558", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1175"}
subset: orphanet_rare {source="Orphanet:1175"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "olivopontocerebellar atrophy, X-linked" RELATED [OMIM:302500]
synonym: "OPCA, X-linked" RELATED [OMIM:302500]
synonym: "SCAX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302500]
synonym: "spinocerebellar ataxia, X-linked 1" RELATED [MONDO:Lexical, OMIM:302500]
synonym: "spinocerebellar ataxia, X-linked 1, X-linked recessive" EXACT [OMIM:302500, OMIM:genemap2]
synonym: "spinocerebellar ataxia, X-linked type 1" EXACT [MONDORULE:1, OMIM:302500]
xref: DOID:0111829 {source="MONDO:equivalentTo"}
xref: GARD:16558 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:1175", source="Orphanet:1175/attributed", source="Orphanet:1175/ntbt"}
xref: MEDGEN:163229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563134 {source="MONDO:equivalentTo"}
xref: OMIM:302500 {source="Orphanet:1175", source="MONDO:equivalentTo", source="Orphanet:1175/e"}
xref: Orphanet:1175 {source="MONDO:equivalentTo", source="OMIM:302500"}
xref: UMLS:C0796205 {source="MEDGEN:163229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016612 {source="Orphanet:1175"} ! X-linked cerebellar ataxia
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1175", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010548
name: spinocerebellar ataxia, X-linked 2
subset: gard_rare {source="GARD:9978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebellar ataxia with extrapyramidal involvement early-onset" RELATED [GARD:0009978]
synonym: "cerebellar ataxia with extrapyramidal involvement, early-onset" RELATED [OMIM:302600]
synonym: "Scax2" RELATED [OMIM:302600]
synonym: "spinocerebellar ataxia X-linked type 2" RELATED [GARD:0009978]
synonym: "spinocerebellar ataxia, X-linked 2" EXACT [OMIM:302600]
synonym: "spinocerebellar ataxia, X-linked type 2" EXACT [MONDORULE:1, OMIM:302600]
xref: DOID:0111830 {source="MONDO:equivalentTo"}
xref: GARD:9978 {source="MONDO:GARD"}
xref: MEDGEN:375535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537314 {source="MONDO:equivalentTo"}
xref: OMIM:302600 {source="MONDO:equivalentTo"}
xref: UMLS:C1844885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375535"}
is_a: MONDO:0016612 {source="https://orcid.org/0000-0002-6601-2165"} ! X-linked cerebellar ataxia

[Term]
id: MONDO:0010549
name: Charcot-Marie-Tooth disease X-linked dominant 1
def: "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." [NCIT:C129068]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1258", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101075"}
subset: orphanet_rare {source="Orphanet:101075"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot Marie Tooth disease X-linked 1" EXACT [GARD:0001258]
synonym: "Charcot-Marie-Tooth disease type X caused by mutation in GJB1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease X-linked dominant 1" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease X-linked dominant type 1" EXACT [DOID:0110209, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 1" EXACT [MONDO:Lexical, OMIM:302800]
synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 1" EXACT [MONDORULE:1, OMIM:302800]
synonym: "Charcot-Marie-Tooth disease, X-linked, 1" EXACT [GARD:0001258]
synonym: "Charcot-Marie-Tooth neuropathy X type 1" EXACT [NCIT:C129068]
synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT [DOID:0110209]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant" EXACT [OMIM:302800, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked, 1" EXACT [OMIM:302800]
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" RELATED [OMIM:302800]
synonym: "CMT1X" RELATED ABBREVIATION [DOID:0110209, Orphanet:101075]
synonym: "CMT2" BROAD ABBREVIATION [OMIM:302800]
synonym: "CMT2, formerly" BROAD [OMIM:302800]
synonym: "CMTX" BROAD ABBREVIATION [OMIM:302800]
synonym: "CMTX 1" EXACT [GARD:0001258]
synonym: "CMTX1" EXACT ABBREVIATION [DOID:0110209, MONDO:Lexical, OMIM:302800, Orphanet:101075]
synonym: "GJB1 Charcot-Marie-Tooth disease type X" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary motor and sensory neuropathy, X-linked" BROAD [OMIM:302800]
synonym: "HMSN, X-linked" BROAD [OMIM:302800]
synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [DOID:0110209]
xref: DOID:0110209 {source="MONDO:equivalentTo"}
xref: GARD:1258 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:101075/attributed", source="Orphanet:101075/ntbt", source="DOID:0110209", source="Orphanet:101075"}
xref: MEDGEN:98290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535919 {source="Orphanet:101075/e", source="Orphanet:101075"}
xref: NCIT:C129068 {source="MONDO:equivalentTo"}
xref: OMIM:302800 {source="Orphanet:101075/e", source="MONDO:equivalentTo", source="DOID:0110209", source="Orphanet:101075"}
xref: Orphanet:101075 {source="MONDO:equivalentTo", source="DOID:0110209", source="OMIM:302800"}
xref: SCTID:763455008 {source="MONDO:equivalentTo"}
xref: UMLS:C0393808 {source="MEDGEN:98290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110209/inferred", source="MONDO:Redundant", source="NCIT:C129068", source="OMIM:302800", source="Orphanet:101075/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018994 {source="DOID:0110209", source="MONDO:Redundant", source="Orphanet:101075"} ! Charcot-Marie-Tooth disease type X
intersection_of: MONDO:0018994 ! Charcot-Marie-Tooth disease type X
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4283 ! GJB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4283 {source="MONDO:mim2gene_medgen"} ! GJB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010550
name: Charcot-Marie-Tooth disease X-linked recessive 2
def: "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." [Orphanet:101076]
subset: gard_rare {source="GARD:1243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101076"}
subset: orphanet_rare {source="Orphanet:101076"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot Marie Tooth disease X-linked recessive 2" EXACT [GARD:0001243]
synonym: "Charcot-Marie-Tooth disease X-linked recessive type 2" EXACT [DOID:0110208, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 2" EXACT [MONDO:Lexical, OMIM:302801]
synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 2" EXACT [DOID:0110208]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2" EXACT [OMIM:302801]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive" EXACT [OMIM:302801, OMIM:genemap2]
synonym: "CMTX 2" EXACT [GARD:0001243]
synonym: "CMTX2" EXACT ABBREVIATION [DOID:0110208, MONDO:Lexical, OMIM:302801, Orphanet:101076]
synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [DOID:0110208]
xref: DOID:0110208 {source="MONDO:equivalentTo"}
xref: GARD:1243 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110208", source="Orphanet:101076/attributed", source="Orphanet:101076/ntbt", source="Orphanet:101076"}
xref: MEDGEN:336803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535302 {source="MONDO:equivalentTo"}
xref: OMIM:302801 {source="DOID:0110208", source="Orphanet:101076/e", source="MONDO:equivalentTo", source="Orphanet:101076"}
xref: Orphanet:101076 {source="DOID:0110208", source="MONDO:equivalentTo", source="OMIM:302801"}
xref: SCTID:763457000 {source="MONDO:equivalentTo"}
xref: UMLS:C1844873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336803"}
is_a: MONDO:0015626 {source="DOID:0110208/inferred", source="MESH:C535302", source="MONDO:Redundant", source="OMIM:302801", source="Orphanet:101076/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018994 {source="DOID:0110208", source="Orphanet:101076"} ! Charcot-Marie-Tooth disease type X
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010551
name: Charcot-Marie-Tooth disease X-linked recessive 3
def: "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported." [Orphanet:101077]
subset: gard_rare {source="GARD:1244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101077"}
subset: orphanet_rare {source="Orphanet:101077"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot Marie Tooth disease X-linked recessive 3" EXACT [GARD:0001244]
synonym: "Charcot-Marie-Tooth disease X-linked recessive type 3" EXACT [DOID:0110211, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 3" EXACT [MONDO:Lexical, OMIM:302802]
synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 3" EXACT [DOID:0110211]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3" EXACT [OMIM:302802]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive" EXACT [OMIM:302802, OMIM:genemap2]
synonym: "CMT3X" EXACT ABBREVIATION [DOID:0110211, Orphanet:101077]
synonym: "CMTX 3" EXACT [GARD:0001244]
synonym: "CMTX3" EXACT ABBREVIATION [DOID:0110211, MONDO:Lexical, OMIM:302802, Orphanet:101077]
synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [DOID:0110211]
xref: DOID:0110211 {source="MONDO:equivalentTo"}
xref: GARD:1244 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:101077", source="Orphanet:101077/attributed", source="Orphanet:101077/ntbt", source="DOID:0110211"}
xref: MEDGEN:375530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535303 {source="MONDO:equivalentTo"}
xref: OMIM:302802 {source="Orphanet:101077", source="MONDO:equivalentTo", source="Orphanet:101077/e", source="DOID:0110211"}
xref: Orphanet:101077 {source="MONDO:equivalentTo", source="DOID:0110211", source="OMIM:302802"}
xref: SCTID:763458005 {source="MONDO:equivalentTo"}
xref: UMLS:C1844865 {source="MONDO:equivalentTo", source="MEDGEN:375530", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110211/inferred", source="MESH:C535303", source="MONDO:Redundant", source="OMIM:302802", source="Orphanet:101077/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018994 {source="DOID:0110211", source="Orphanet:101077"} ! Charcot-Marie-Tooth disease type X
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010552
name: Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita" EXACT [OMIM:302803]
xref: MEDGEN:337105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538077 {source="MONDO:equivalentTo"}
xref: OMIM:302803 {source="MONDO:equivalentTo"}
xref: UMLS:C1844864 {source="MEDGEN:337105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C538077/inferred"} ! hereditary disease

[Term]
id: MONDO:0010553
name: Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined" EXACT [OMIM:302900]
xref: MEDGEN:337104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564446 {source="MONDO:equivalentTo"}
xref: OMIM:302900 {source="MONDO:equivalentTo"}
xref: UMLS:C1844863 {source="MEDGEN:337104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564446/inferred"} ! hereditary disease

[Term]
id: MONDO:0010554
name: Abruzzo-Erickson syndrome
def: "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." [Orphanet:921]
subset: gard_rare {source="GARD:360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:921"}
subset: ordo_malformation_syndrome {source="Orphanet:921"}
subset: orphanet_rare {source="Orphanet:921"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABERS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:302905]
synonym: "Abruzzo-Erickson syndrome" EXACT [MONDO:Lexical, OMIM:302905]
synonym: "CHARGE like syndrome X-linked" RELATED [GARD:0000360]
synonym: "CHARGE-like syndrome" EXACT [Orphanet:921]
synonym: "CHARGE-like syndrome, X-linked" RELATED [OMIM:302905]
synonym: "cleft palate-coloboma-deafness syndrome" EXACT [Orphanet:921]
xref: DOID:0111826 {source="MONDO:equivalentTo"}
xref: GARD:360 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:921/attributed", source="Orphanet:921/ntbt", source="Orphanet:921"}
xref: MEDGEN:375529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535559 {source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"}
xref: OMIM:302905 {source="Orphanet:921", source="MONDO:equivalentTo", source="Orphanet:921/e"}
xref: Orphanet:921 {source="OMIM:302905", source="MONDO:equivalentTo"}
xref: SCTID:718574003 {source="MONDO:equivalentTo"}
xref: UMLS:C1844862 {source="MEDGEN:375529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:921"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11600 {source="MONDO:mim2gene_medgen"} ! TBX22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome" xsd:anyURI {source="GARD:0000360"}

[Term]
id: MONDO:0010555
name: X-linked chondrodysplasia punctata 1
def: "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones." [Orphanet:79345]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79345"}
subset: ordo_malformation_syndrome {source="Orphanet:79345"}
subset: orphanet_rare {source="Orphanet:79345"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "ARSE X-linked chondrodysplasia punctata" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "arse X-linked chondrodysplasia punctata" EXACT [MONDO:design_pattern]
synonym: "arylsulfatase E deficiency" RELATED [GARD:0001296]
synonym: "brachytelephalangic chondrodysplasia punctata" EXACT [Orphanet:79345]
synonym: "CDPX1" RELATED ABBREVIATION [GARD:0001296, MONDO:Lexical, OMIM:302950]
synonym: "chondrodysplasia punctata 1 X-linked recessive" RELATED [GARD:0001296]
synonym: "chondrodysplasia punctata 1, X-linked recessive" RELATED [MONDO:Lexical, OMIM:302950]
synonym: "chondrodysplasia punctata brachytelephalangic" RELATED [GARD:0001296]
synonym: "chondrodysplasia punctata, Brachytelephalangic" RELATED [OMIM:302950]
synonym: "chondrodysplasia punctata, brachytelephalangic" RELATED [GARD:0001296]
synonym: "chondrodysplasia punctata, X-linked recessive, X-linked recessive" EXACT [OMIM:302950, OMIM:genemap2]
synonym: "CPXR" RELATED ABBREVIATION [GARD:0001296]
synonym: "Cpxr" RELATED [OMIM:302950]
synonym: "X-linked chondrodysplasia punctata 1" EXACT CLINGEN_LABEL []
synonym: "X-linked chondrodysplasia punctata caused by mutation in ARSE" EXACT []
synonym: "X-linked chondrodysplasia punctata caused by mutation in arse" EXACT [MONDO:design_pattern]
xref: GARD:1296 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:79345/attributed", source="Orphanet:79345/ntbt", source="Orphanet:79345"}
xref: MEDGEN:777171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535941 {source="Orphanet:79345/e", source="Orphanet:79345"}
xref: NANDO:2201356 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201360 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:302950 {source="Orphanet:79345/e", source="MONDO:equivalentTo", source="GARD:0001296", source="Orphanet:79345"}
xref: Orphanet:79345 {source="MONDO:equivalentTo", source="OMIM:302950", source="GARD:0001296"}
xref: UMLS:C3669395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777171"}
is_a: MONDO:0010556 {source="MONDO:Redundant"} ! X-linked chondrodysplasia punctata
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism
is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata
intersection_of: MONDO:0010556 ! X-linked chondrodysplasia punctata
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/719 ! ARSL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/719 {source="MONDO:mim2gene_medgen"} ! ARSL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive" xsd:anyURI {source="GARD:0001296"}

[Term]
id: MONDO:0010556
name: X-linked chondrodysplasia punctata
def: "X-linked form of chondrodysplasia punctata." [MONDO:patterns/x_linked]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "chondrodysplasia punctata, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "chondrodysplasia punctata, X-linked dominant" RELATED [GARD:0006189]
synonym: "chondrodystrophia calcificans congenita" EXACT [DOID:0060292, Orphanet:35173]
synonym: "CPXD" EXACT ABBREVIATION [GARD:0006189, Orphanet:35173]
synonym: "X-linked dominant chondrodysplasia punctata" RELATED [Orphanet:35173]
xref: DOID:0060292 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q77.3 {source="Orphanet:35173", source="DOID:0060292", source="Orphanet:35173/attributed", source="Orphanet:35173/ntbt"}
xref: MEDGEN:538019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C002806 {source="DOID:0060292"}
xref: UMLS:C0263627 {source="MEDGEN:538019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
is_a: MONDO:0015775 {source="Orphanet:35173"} ! non-rhizomelic chondrodysplasia punctata
is_a: MONDO:0019240 {source="Orphanet:35173"} ! sterol biosynthesis disorder
intersection_of: MONDO:0019701 ! chondrodysplasia punctata
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance

[Term]
id: MONDO:0010557
name: choroideremia
def: "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." [Orphanet:180]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6061", source="MONDO:GARD"}
subset: nord_rare {source="NORD:932", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180"}
subset: orphanet_rare {source="Orphanet:180"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:303100, Orphanet:180]
synonym: "choroidal sclerosis" RELATED [OMIM:303100]
synonym: "choroideremia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:303100]
synonym: "progressive choroidal atrophy" EXACT [DOID:9821, NCIT:C34469]
synonym: "progressive tapetochoroidal dystrophy" RELATED [GARD:0006061]
synonym: "Tapetochoroidal dystrophy" EXACT [Orphanet:180]
synonym: "Tapetochoroidal dystrophy, progressive" RELATED [OMIM:303100]
synonym: "TCD" RELATED ABBREVIATION [GARD:0006061]
xref: DOID:9821 {source="MONDO:equivalentTo"}
xref: GARD:6061 {source="MONDO:GARD"}
xref: ICD10CM:H31.2 {source="Orphanet:180/ntbt", source="Orphanet:180/inclusion", source="Orphanet:180"}
xref: ICD10CM:H31.21 {source="DOID:9821", source="MONDO:equivalentTo"}
xref: ICD9:363.55 {source="DOID:9821", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10008791 {source="Orphanet:180", source="Orphanet:180/e"}
xref: MEDGEN:944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015794 {source="DOID:9821", source="Orphanet:180", source="MONDO:equivalentTo", source="Orphanet:180/e"}
xref: NCIT:C34469 {source="DOID:9821", source="MONDO:equivalentTo"}
xref: NORD:932 {source="MONDO:NORD"}
xref: OMIM:303100 {source="DOID:9821", source="Orphanet:180", source="MONDO:equivalentTo", source="Orphanet:180/e"}
xref: Orphanet:180 {source="OMIM:303100", source="MONDO:equivalentTo"}
xref: SCTID:75241009 {source="DOID:9821", source="MONDO:equivalentTo"}
xref: UMLS:C0008525 {source="MEDGEN:944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="MESH:D015794", source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0001898 {source="DOID:9821", source="MESH:D015794"} ! optic choroid disorder
is_a: MONDO:0004580 {source="DOID:9821", source="MONDO:Redundant", source="MONDO:indirect"} ! retinal degeneration
relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:303100"} ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1940 {source="MONDO:mim2gene_medgen"} ! CHM
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6061/choroideremia" xsd:anyURI {source="GARD:0006061"}

[Term]
id: MONDO:0010558
name: choroideremia-deafness-obesity syndrome
def: "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." [Orphanet:1435]
subset: gard_rare {source="GARD:369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1435"}
subset: ordo_malformation_syndrome {source="Orphanet:1435"}
subset: orphanet_rare {source="Orphanet:1435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ayazi syndrome" EXACT [Orphanet:1435]
synonym: "choroideremia deafness obesity" RELATED [GARD:0000369]
synonym: "choroideremia, deafness, and intellectual disability" RELATED [OMIM:303110]
synonym: "choroideremia, deafness, and mental retardation" RELATED DEPRECATED [OMIM:303110]
synonym: "choroideremia, obesity, and congenital deafness" RELATED [GARD:0000369]
synonym: "chromosome Xq21 deletion syndrome" RELATED [OMIM:303110]
synonym: "Xq21 deletion syndrome, X-linked recessive" EXACT [OMIM:303110, OMIM:genemap2]
xref: GARD:369 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1435", source="Orphanet:1435/attributed", source="Orphanet:1435/ntbt"}
xref: MEDGEN:763933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537793 {source="MONDO:equivalentTo"}
xref: OMIM:303110 {source="MONDO:equivalentTo", source="Orphanet:1435", source="Orphanet:1435/e"}
xref: Orphanet:1435 {source="OMIM:303110", source="MONDO:equivalentTo"}
xref: SCTID:717761005 {source="MONDO:equivalentTo"}
xref: UMLS:C3551019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763933"}
is_a: MONDO:0019118 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010559
name: MASA syndrome
def: "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." [Orphanet:2466]
subset: gard_rare {source="GARD:6986", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2466"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adducted thumb with intellectual disability" RELATED [OMIM:303350]
synonym: "adducted thumb with mental retardation" RELATED DEPRECATED [OMIM:303350]
synonym: "Clasped thumb and intellectual disability" RELATED [OMIM:303350]
synonym: "Clasped thumb and mental retardation" RELATED DEPRECATED [OMIM:303350]
synonym: "CRASH syndrome" RELATED [DOID:0060246]
synonym: "CRASH syndrome, X-linked recessive" RELATED [OMIM:303350, OMIM:genemap2]
synonym: "Gareis-Mason syndrome" EXACT [DOID:0060246, OMIM:303350]
synonym: "hereditary spastic paraplegia 1" EXACT [DOID:0060246]
synonym: "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)" RELATED [GARD:0006986]
synonym: "intellectual disability, aphasia, shuffling Gait, and adducted thumbs" RELATED [OMIM:303350]
synonym: "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome" EXACT [Orphanet:2466]
synonym: "L1 syndrome" RELATED EXCLUDE [DOID:0060246]
synonym: "MASA syndrome" EXACT [OMIM:303350]
synonym: "masa syndrome, X-linked recessive" EXACT [OMIM:303350, OMIM:genemap2]
synonym: "mental retardation aphasia shuffling Gait adducted thumbs (MASA)" RELATED DEPRECATED [GARD:0006986]
synonym: "mental retardation, aphasia, shuffling Gait, and adducted thumbs" RELATED DEPRECATED [OMIM:303350]
synonym: "spastic paraplegia 1" RELATED [GARD:0006986]
synonym: "spastic paraplegia 1, X-linked" RELATED [OMIM:303350]
synonym: "spastic paraplegia, X-linked" EXACT [NCIT:C129930]
synonym: "SPG1" RELATED EXCLUDE [DOID:0060246]
synonym: "thumb congenital clasped with intellectual disability" RELATED [GARD:0006986]
synonym: "thumb congenital clasped with mental retardation" RELATED DEPRECATED [GARD:0006986]
synonym: "thumb, congenital Clasped, with intellectual disability" RELATED [OMIM:303350]
synonym: "thumb, congenital Clasped, with mental retardation" RELATED DEPRECATED [OMIM:303350]
synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [DOID:0060246]
synonym: "X-linked corpus callosum agenesis" EXACT [DOID:0060246]
synonym: "X-linked spastic paraplegia 1" EXACT [DOID:0060246]
xref: DOID:0060246 {source="MONDO:equivalentTo"}
xref: GARD:6986 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:2466/attributed", source="Orphanet:2466/ntbt", source="DOID:0060246", source="Orphanet:2466"}
xref: MEDGEN:162894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536029 {source="DOID:0060246", source="Orphanet:2466", source="Orphanet:2466/e"}
xref: NCIT:C129930 {source="MONDO:equivalentTo"}
xref: OMIM:303350 {source="DOID:0060246", source="Orphanet:2466", source="MONDO:equivalentTo", source="Orphanet:2466/e"}
xref: Orphanet:2466 {source="DOID:0060246", source="MONDO:equivalentTo", source="OMIM:303350"}
xref: Orphanet:275543 {source="OMIM:303350"}
xref: SCTID:716996008 {source="MONDO:equivalentTo"}
xref: UMLS:C0795953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162894"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0017140 {source="Orphanet:2466", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome
is_a: MONDO:0019064 {source="DOID:0060246", source="MONDO:Redundant", source="OMIM:303350", source="Orphanet:2466/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6470 {source="MONDO:mim2gene_medgen"} ! L1CAM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010560
name: cleft palate with or without ankyloglossia, X-linked
def: "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported." [Orphanet:324601]
subset: gard_rare {source="GARD:1394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324601"}
subset: ordo_malformation_syndrome {source="Orphanet:324601"}
subset: orphanet_rare {source="Orphanet:324601"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate with ankyloglossia" EXACT [OMIM:303400, OMIM:genemap2]
synonym: "cleft palate with or without ankyloglossia, X-linked" EXACT CLINGEN_LABEL [MESH:C536426, MONDO:Lexical, OMIM:303400]
synonym: "cleft palate X-linked" RELATED [GARD:0001394]
synonym: "cleft palate, X-linked" RELATED [MESH:C536426]
synonym: "CPX" RELATED ABBREVIATION [GARD:0001394, MESH:C536426, MONDO:Lexical, OMIM:303400]
synonym: "X-linked cleft palate" RELATED [GARD:0001394, MESH:C536426]
synonym: "X-linked cleft palate and ankyloglossia" EXACT [DOID:0060613, MONDO:0017938, Orphanet:324601]
xref: DOID:0060613 {source="MONDO:equivalentTo"}
xref: GARD:1394 {source="MONDO:GARD"}
xref: ICD10CM:Q35.9 {source="Orphanet:324601/attributed", source="Orphanet:324601/ntbt", source="Orphanet:324601"}
xref: MEDGEN:375520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536426 {source="MONDO:equivalentTo"}
xref: OMIM:303400 {source="Orphanet:324601/ntbt", source="Orphanet:324601", source="MONDO:equivalentTo", source="DOID:0060613", source="GARD:0001394"}
xref: Orphanet:324601 {source="OMIM:303400", source="MONDO:equivalentTo", source="DOID:0060613"}
xref: SCTID:766761000 {source="MONDO:equivalentTo"}
xref: UMLS:C1844830 {source="MEDGEN:375520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536426/inferred"} ! hereditary disease
is_a: MONDO:0016064 {source="DC-OMIM:303400", source="MESH:C536426"} ! cleft palate
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11600 {source="MONDO:mim2gene_medgen"} ! TBX22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked" xsd:anyURI {source="GARD:0001394"}

[Term]
id: MONDO:0010561
name: Coffin-Lowry syndrome
def: "A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." [Orphanet:192]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:983"}
subset: ordo_disorder {source="Orphanet:192"}
subset: ordo_malformation_syndrome {source="Orphanet:192"}
subset: orphanet_rare {source="Orphanet:192"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:303600, Orphanet:192]
synonym: "Coffin Lowry Syndrome" EXACT [NORD:983]
synonym: "Coffin syndrome" RELATED [GARD:0006123]
synonym: "Coffin syndrome 1" RELATED [GARD:0008589]
synonym: "COFFIN-Lowry syndrome" RELATED [OMIM:303600]
synonym: "Coffin-Lowry syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:303600]
synonym: "Coffin-Lowry syndrome, X-linked dominant" EXACT [OMIM:303600, OMIM:genemap2]
synonym: "dwarfism, lean spastic type" RELATED [GARD:0008589, MESH:C536435]
synonym: "intellectual disability with osteocartilaginous abnormalities" RELATED [GARD:0006123]
synonym: "lean spastic dwarfism" RELATED [GARD:0008589, MESH:C536435]
synonym: "mental retardation with osteocartilaginous abnormalities" RELATED DEPRECATED [GARD:0006123]
xref: DOID:3783 {source="MONDO:equivalentTo"}
xref: GARD:6123 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:192", source="Orphanet:192/attributed", source="Orphanet:192/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536435 {source="MONDO:equivalentTo"}
xref: MESH:D038921 {source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192", source="Orphanet:192/e"}
xref: NANDO:1200660 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200952 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84643 {source="DOID:3783", source="MONDO:equivalentTo"}
xref: NORD:983 {source="MONDO:NORD"}
xref: OMIM:303600 {source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192", source="Orphanet:192/e"}
xref: Orphanet:192 {source="MONDO:equivalentTo", source="OMIM:303600"}
xref: SCTID:15182000 {source="DOID:3783", source="MONDO:equivalentTo"}
xref: UMLS:C0265252 {source="MEDGEN:75556", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84643"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536435", source="MESH:D038921/inferred", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
relationship: excluded_subClassOf MONDO:0005027 {source="MESH:C536435", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0005392 {source="MESH:C536435", source="https://orcid.org/0000-0001-5208-3432"} ! scoliosis
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:192", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:192", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10432 {source="MONDO:mim2gene_medgen"} ! RPS6KA3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome" xsd:anyURI {source="GARD:0006123"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1" xsd:anyURI {source="GARD:0008589"}

[Term]
id: MONDO:0010562
name: colonic atresia
def: "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." [Orphanet:1198]
subset: gard_rare {source="GARD:1446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1198"}
subset: ordo_morphological_anomaly {source="Orphanet:1198"}
subset: orphanet_rare {source="Orphanet:1198"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atresia of colon" EXACT [NCIT:C101024]
synonym: "colon atresia" EXACT [NCIT:C101024]
synonym: "colonic atresia" EXACT [MONDO:ambiguous, OMIM:303650]
synonym: "colonic atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "congenital atresia of colon" EXACT [NCIT:C101024]
xref: GARD:1446 {source="MONDO:GARD"}
xref: HP:0010448 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q42.9 {source="Orphanet:1198", source="Orphanet:1198/attributed", source="Orphanet:1198/ntbt"}
xref: MEDGEN:75605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562562 {source="MONDO:equivalentTo"}
xref: NCIT:C101024 {source="MONDO:equivalentTo"}
xref: OMIM:303650 {source="Orphanet:1198", source="MONDO:equivalentTo", source="Orphanet:1198/e"}
xref: Orphanet:1198 {source="OMIM:303650", source="MONDO:equivalentTo"}
xref: SCTID:37054000 {source="MONDO:equivalentTo"}
xref: UMLS:C0266190 {source="MONDO:equivalentTo", source="MEDGEN:75605", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "colonic atresia (disease)" xsd:string

[Term]
id: MONDO:0010563
name: blue cone monochromacy
def: "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." [Orphanet:16]
subset: gard_rare {source="GARD:917", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:16"}
subset: orphanet_rare {source="Orphanet:16"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "achromatopsia incomplete X-linked" RELATED [GARD:0000917]
synonym: "atypical X-linked achromatopsia" EXACT [Orphanet:16]
synonym: "BCM" RELATED ABBREVIATION [GARD:0000917, MONDO:Lexical, OMIM:303700]
synonym: "blue cone monochromacy" EXACT [MONDO:Lexical, OMIM:303700, Orphanet:16]
synonym: "blue cone monochromacy, X-linked recessive" EXACT [OMIM:303700, OMIM:genemap2]
synonym: "blue cone monochromatism" EXACT [MONDO:0015563, OMIM:303700]
synonym: "CBBM" RELATED ABBREVIATION [GARD:0000917]
synonym: "color blindness blue mono cone monochromatic type" RELATED [GARD:0000917]
synonym: "color blindness, blue monocone monochromatic type" EXACT [Orphanet:16]
synonym: "colorblindness, blue-Mono-cone-monochromatic type" RELATED [OMIM:303700]
synonym: "colour blindness blue mono cone monochromatic type" RELATED OMO:0003005 []
synonym: "colour blindness, blue monocone monochromatic type" EXACT OMO:0003005 []
synonym: "cone dystrophy 5, X-linked" RELATED [OMIM:303700]
synonym: "incomplete achromatopsia X-linked" RELATED [GARD:0000917]
synonym: "S cone monochromacy" EXACT [Orphanet:16]
synonym: "S cone monochromatism" EXACT [Orphanet:16]
synonym: "X-chromosome-linked achromatopsia" RELATED [GARD:0000917]
synonym: "X-linked achromatopsia incomplete" RELATED [GARD:0000917]
synonym: "X-linked incomplete achromatopsia" EXACT [Orphanet:16]
xref: DOID:0050679 {source="MONDO:equivalentTo"}
xref: GARD:917 {source="MONDO:GARD"}
xref: ICD10CM:H53.5 {source="Orphanet:16/inclusion", source="Orphanet:16", source="Orphanet:16/ntbt"}
xref: MEDGEN:87386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536238 {source="MONDO:equivalentTo", source="Orphanet:16", source="Orphanet:16/e"}
xref: MESH:C538165 {source="Orphanet:16", source="Orphanet:16/e"}
xref: OMIM:303700 {source="GARD:0000917", source="MONDO:equivalentTo", source="Orphanet:16", source="Orphanet:16/e"}
xref: Orphanet:16 {source="GARD:0000917", source="MONDO:equivalentTo", source="OMIM:303700"}
xref: SCTID:24704003 {source="MONDO:equivalentTo"}
xref: UMLS:C0339537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87386"}
is_a: MONDO:0015993 ! cone-rod dystrophy
is_a: MONDO:0018852 {source="DOID:0050679"} ! achromatopsia
relationship: has_characteristic HP:0001419 ! X-linked recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism" xsd:anyURI {source="GARD:0000917"}

[Term]
id: MONDO:0010564
name: red-green color blindness
def: "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." [EFO:0005581]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CBD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:303800]
synonym: "colorblindness, deutan" EXACT [OMIM:303800, OMIM:genemap2]
synonym: "colorblindness, partial, DEUTAN series" RELATED [MONDO:Lexical, OMIM:303800]
synonym: "Deutan colorblindness" RELATED [OMIM:303800]
synonym: "Deutan defect" EXACT [DOID:13909, ICD9CM:368.52]
synonym: "Deuteranomaly" RELATED [OMIM:303800]
synonym: "deuteranopia" EXACT [DOID:13909, OMIM:303800, Orphanet:319698]
synonym: "Green colorblindness" RELATED [OMIM:303800]
synonym: "partial achromatopsia, deutan type" EXACT [Orphanet:319698]
synonym: "reduced red-green discrimination" EXACT [DOID:13909]
xref: DOID:13909 {source="MONDO:equivalentTo", source="EFO:0005581"}
xref: EFO:0005581 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H53.53 {source="MONDO:equivalentTo", source="DOID:13909"}
xref: ICD9:368.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13909", source="EFO:0005581"}
xref: MEDGEN:102324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003117 {source="DOID:13909"}
xref: OMIM:303800 {source="MONDO:equivalentTo", source="DOID:13909", source="EFO:0005581"}
xref: Orphanet:319698 {source="MONDO:equivalentObsolete", source="OMIM:303800", source="DOID:13909"}
xref: SCTID:246674000 {source="DOID:13909"}
xref: SCTID:77479002 {source="MONDO:equivalentTo", source="DOID:13909", source="EFO:0005581"}
xref: UMLS:C0155016 {source="MEDGEN:102324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000014 {source="DC-OMIM:303800"} ! colorblindness, partial
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4206 {source="MONDO:mim2gene_medgen"} ! OPN1MW
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010565
name: red color blindness
def: "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." [EFO:0005580]
subset: otar {source="MONDO:OTAR"}
synonym: "CBP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:303900]
synonym: "colorblindness, partial, protan series" RELATED [MONDO:Lexical, OMIM:303900]
synonym: "colorblindness, protan" EXACT [OMIM:303900, OMIM:genemap2]
synonym: "partial achromatopsia, protan type" EXACT [Orphanet:319691]
synonym: "protan defect" EXACT [DOID:13910, ICD9CM:368.51]
synonym: "protanomaly" RELATED [OMIM:303900]
synonym: "protanopia" EXACT [DOID:13910, OMIM:303900]
synonym: "red color blindness" EXACT CLINGEN_LABEL []
synonym: "red colorblindness" RELATED [OMIM:303900]
xref: DOID:13910 {source="MONDO:equivalentTo", source="EFO:0005580"}
xref: EFO:0005580 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H53.54 {source="DOID:13910", source="MONDO:equivalentTo"}
xref: ICD9:368.51 {source="DOID:13910", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005580"}
xref: MEDGEN:56350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003117 {source="DOID:13910"}
xref: OMIM:303900 {source="DOID:13910", source="MONDO:equivalentTo"}
xref: Orphanet:319691 {source="MONDO:equivalentObsolete", source="OMIM:303900"}
xref: SCTID:51445007 {source="DOID:13910", source="MONDO:equivalentTo", source="EFO:0005580"}
xref: UMLS:C0155015 {source="MONDO:equivalentTo", source="MEDGEN:56350", source="MONDO:MEDGEN"}
is_a: MONDO:0001703 {source="https://orcid.org/0000-0002-6601-2165"} ! color vision disorder
is_a: MONDO:0005328 {source="DOID:13910/inferred", source="EFO:0005580/inferred", source="MONDO:Redundant", source="OMIM:303900/inferred"} ! eye disorder
relationship: disease_has_location UBERON:0010230 ! eyeball of camera-type eye
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9936 {source="MONDO:mim2gene_medgen"} ! OPN1LW
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010566
name: X-linked cone-rod dystrophy 1
subset: gard_rare {source="GARD:10652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COD1" EXACT ABBREVIATION [DOID:0111008]
synonym: "cone dystrophy 1, X-linked" RELATED [OMIM:304020]
synonym: "cone dystrophy X-linked 1" RELATED [GARD:0010652]
synonym: "cone-rod dystrophy X-linked 1" RELATED [GARD:0010652]
synonym: "cone-rod dystrophy, X-linked, 1" RELATED [MONDO:Lexical, OMIM:304020]
synonym: "cone-rod dystrophy, X-linked, 1, X-linked recessive" EXACT [OMIM:304020, OMIM:genemap2]
synonym: "cone-rod dystrophy, X-linked, type 1" EXACT [MONDORULE:1, OMIM:304020]
synonym: "CORDX1" EXACT ABBREVIATION [DOID:0111008, MONDO:Lexical, OMIM:304020]
synonym: "X-linked cone dystrophy 1" EXACT [DOID:0111008]
synonym: "X-linked cone-rod dystrophy type 1" EXACT [DOID:0111008, MONDORULE:1]
xref: DOID:0111008 {source="MONDO:equivalentTo"}
xref: GARD:10652 {source="MONDO:GARD"}
xref: MEDGEN:336777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564438 {source="MONDO:equivalentTo"}
xref: OMIM:304020 {source="DOID:0111008", source="MONDO:equivalentTo"}
xref: Orphanet:1872 {source="MONDO:relatedTo", source="OMIM:304020"}
xref: UMLS:C1844776 {source="MONDO:equivalentTo", source="MEDGEN:336777", source="MONDO:MEDGEN"}
intersection_of: MONDO:0021155 ! X-linked cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 ! RPGR
relationship: has_characteristic HP:0001417 {source="OMIM:304020"} ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 {source="MONDO:mim2gene_medgen"} ! RPGR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1" xsd:anyURI {source="GARD:0010652"}

[Term]
id: MONDO:0010567
name: cone dystrophy, X-linked, with tapetal-like sheen
subset: gard_rare {source="GARD:10119", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone dystrophy X-linked with tapetal-like sheen" RELATED [GARD:0010119]
synonym: "cone dystrophy, X-linked, with tapetal-like sheen" EXACT [OMIM:304030]
synonym: "X-linked recessive cone dystrophy with tapetal-like sheen" RELATED [GARD:0010119]
xref: GARD:10119 {source="MONDO:GARD"}
xref: MEDGEN:336776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535975 {source="MONDO:equivalentTo"}
xref: OMIM:304030 {source="MONDO:equivalentTo"}
xref: Orphanet:1871 {source="OMIM:304030"}
xref: UMLS:C1844775 {source="MEDGEN:336776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000455 {source="https://orcid.org/0000-0001-5208-3432"} ! cone dystrophy
relationship: has_characteristic HP:0001417 {source="https://orcid.org/0000-0002-6601-2165"} ! X-linked inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen" xsd:anyURI {source="GARD:0010119"}

[Term]
id: MONDO:0010568
name: Aicardi syndrome
def: "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." [Orphanet:50]
subset: gard_rare {source="GARD:5764", source="MONDO:GARD"}
subset: nord_rare {source="NORD:745", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50"}
subset: orphanet_rare {source="Orphanet:50"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agenesis of corpus callosum with chorioretinal abnormality" EXACT [Orphanet:50]
synonym: "AIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304050]
synonym: "Aicardi syndrome" EXACT [MONDO:Lexical, OMIM:304050]
synonym: "Aicardi syndrome, X-linked dominant" EXACT [OMIM:304050, OMIM:genemap2]
synonym: "corpus callosum agenesis of with chorioretinal abnormality" EXACT [Orphanet:50]
synonym: "corpus callosum, agenesis of, with chorioretinal Abnormality" RELATED [OMIM:304050]
xref: DOID:8461 {source="MONDO:equivalentTo"}
xref: GARD:5764 {source="MONDO:GARD"}
xref: ICD10CM:Q04.0 {source="Orphanet:50/attributed", source="Orphanet:50/ntbt", source="Orphanet:50"}
xref: MedDRA:10054935 {source="Orphanet:50/e", source="Orphanet:50"}
xref: MEDGEN:61236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058540 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50"}
xref: NANDO:1200562 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35256 {source="MONDO:equivalentTo", source="DOID:8461"}
xref: NORD:745 {source="MONDO:NORD"}
xref: OMIM:304050 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50"}
xref: Orphanet:50 {source="MONDO:equivalentTo", source="OMIM:304050", source="DOID:8461"}
xref: SCTID:80651009 {source="MONDO:equivalentTo", source="DOID:8461"}
xref: UMLS:C0175713 {source="MEDGEN:61236", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:8461", source="MONDO:Redundant", source="NCIT:C35256", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: disease_has_feature HP:0007858 ! Chorioretinal lacunae
relationship: excluded_subClassOf MONDO:0015218 {source="Orphanet:50", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic developmental defect of the eye
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:50", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome" xsd:anyURI {source="GARD:0005764"}

[Term]
id: MONDO:0010569
name: X-linked complicated corpus callosum dysgenesis
def: "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." [Orphanet:1497]
subset: gard_rare {source="GARD:12526", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1497"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corpus callosum, partial agenesis of, X-linked" RELATED [OMIM:304100]
synonym: "corpus callosum, partial agenesis of, X-linked recessive" EXACT [OMIM:304100, OMIM:genemap2]
synonym: "X-linked complicated corpus callosum agenesis" RELATED [GARD:0012526]
synonym: "X-linked partial agenesis of corpus callosum" RELATED [GARD:0012526]
synonym: "X-linked partial corpus callosum agenesis" RELATED [GARD:0012526]
xref: GARD:12526 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:1497", source="Orphanet:1497/attributed", source="Orphanet:1497/ntbt"}
xref: MEDGEN:374339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564115 {source="MONDO:equivalentTo"}
xref: OMIM:304100 {source="Orphanet:1497", source="MONDO:equivalentTo", source="Orphanet:1497/e"}
xref: Orphanet:1497 {source="OMIM:304100", source="MONDO:equivalentTo"}
xref: Orphanet:275543 {source="OMIM:304100"}
xref: UMLS:C1839909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374339"}
is_a: MONDO:0017140 {source="Orphanet:1497", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6470 {source="MONDO:mim2gene_medgen"} ! L1CAM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010570
name: craniofrontonasal syndrome
def: "An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." [Orphanet:1520]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1012"}
subset: ordo_disorder {source="Orphanet:1520"}
subset: ordo_malformation_syndrome {source="Orphanet:1520"}
subset: orphanet_rare {source="Orphanet:1520"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CFND" EXACT ABBREVIATION [Orphanet:1520]
synonym: "CFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:304110, Orphanet:1520]
synonym: "craniofrontonasal dysostosis" RELATED [OMIM:304110]
synonym: "Craniofrontonasal Dysplasia" EXACT [NORD:1012]
synonym: "craniofrontonasal dysplasia" EXACT [DOID:14737, OMIM:304110]
synonym: "craniofrontonasal dysplasia, X-linked dominant" EXACT [OMIM:304110, OMIM:genemap2]
synonym: "craniofrontonasal syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:304110, Orphanet:1520]
xref: DOID:14737 {source="MONDO:equivalentTo"}
xref: GARD:1578 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1520/attributed", source="Orphanet:1520/ntbt", source="Orphanet:1520"}
xref: MEDGEN:65095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536456 {source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"}
xref: NORD:1012 {source="MONDO:NORD"}
xref: OMIM:304110 {source="DOID:14737", source="Orphanet:1520", source="MONDO:equivalentTo", source="Orphanet:1520/e"}
xref: Orphanet:1520 {source="OMIM:304110", source="MONDO:equivalentTo"}
xref: SCTID:715421009 {source="MONDO:equivalentTo"}
xref: UMLS:C0220767 {source="MONDO:equivalentTo", source="MEDGEN:65095", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: excluded_subClassOf MONDO:0016643 {source="Orphanet:1520", source="https://orcid.org/0000-0001-5208-3432"} ! frontonasal dysplasia
relationship: excluded_subClassOf MONDO:0018237 {source="Orphanet:1520", source="https://orcid.org/0000-0001-5208-3432"} ! acrofacial dysostosis
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1520", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3226 {source="MONDO:mim2gene_medgen"} ! EFNB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010571
name: otopalatodigital syndrome type 2
def: "A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." [Orphanet:90652]
subset: gard_rare {source="GARD:5802", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1539", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90652"}
subset: orphanet_rare {source="Orphanet:90652"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Andre syndrome" RELATED [GARD:0005802]
synonym: "cranio-oro-digital syndrome" RELATED [GARD:0005802]
synonym: "cranioorodigital syndrome" RELATED [OMIM:304120]
synonym: "faciopalatoosseous syndrome" RELATED [OMIM:304120]
synonym: "FPO" RELATED ABBREVIATION [GARD:0005802]
synonym: "OPD 2 syndrome" EXACT [OMIM:304120]
synonym: "OPD II syndrome" EXACT [Orphanet:90652]
synonym: "OPD syndrome 2" EXACT [OMIM:304120, Orphanet:90652]
synonym: "OPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304120]
synonym: "oto-palato-digital syndrome type 2" RELATED [GARD:0005802]
synonym: "Otopalatodigital Syndrome Type I and II" EXACT [NORD:1539]
synonym: "otopalatodigital syndrome, type 2" RELATED [OMIM:304120]
synonym: "otopalatodigital syndrome, type II" RELATED [MONDO:Lexical, OMIM:304120]
synonym: "otopalatodigital syndrome, type II, X-linked dominant" EXACT [OMIM:304120, OMIM:genemap2]
xref: DOID:0111784 {source="MONDO:equivalentTo"}
xref: GARD:5802 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:90652", source="Orphanet:90652/attributed", source="Orphanet:90652/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:337064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538089 {source="MONDO:equivalentTo", source="Orphanet:90652", source="Orphanet:90652/e"}
xref: NORD:1539 {source="MONDO:NORD"}
xref: OMIM:304120 {source="MONDO:equivalentTo", source="Orphanet:90652", source="Orphanet:90652/e"}
xref: Orphanet:669 {source="OMIM:304120"}
xref: Orphanet:90652 {source="MONDO:equivalentTo", source="OMIM:304120"}
xref: SCTID:42432003 {source="MONDO:equivalentTo"}
xref: UMLS:C1844696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337064"}
is_a: MONDO:0019027 {source="Orphanet:90652"} ! otopalatodigital syndrome
is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010572
name: occipital horn syndrome
def: "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." [Orphanet:198]
subset: gard_rare {source="GARD:4017", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:198"}
subset: orphanet_rare {source="Orphanet:198"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutis laxa X-linked" RELATED [GARD:0004017]
synonym: "cutis laxa, X-linked" RELATED [OMIM:304150]
synonym: "cutis laxa, X-linked, formerly" RELATED [OMIM:304150]
synonym: "EDS IX" EXACT [OMIM:304150, Orphanet:198]
synonym: "EDS IX (formerly)" RELATED [GARD:0004017]
synonym: "EDS IX, formerly" RELATED [OMIM:304150]
synonym: "EDS9" RELATED ABBREVIATION [OMIM:304150]
synonym: "EDS9, formerly" RELATED [OMIM:304150]
synonym: "Ehlers-Danlos syndrome type 9" EXACT [Orphanet:198]
synonym: "Ehlers-Danlos syndrome type IX" EXACT [Orphanet:198]
synonym: "Ehlers-Danlos syndrome, occipital horn type" RELATED [OMIM:304150]
synonym: "Ehlers-Danlos syndrome, occipital horn type (formerly)" RELATED [GARD:0004017]
synonym: "Ehlers-Danlos syndrome, occipital horn type, formerly" RELATED [OMIM:304150]
synonym: "occipital horn syndrome" EXACT [MONDO:Lexical, OMIM:304150]
synonym: "occipital horn syndrome, X-linked recessive" EXACT [OMIM:304150, OMIM:genemap2]
synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304150]
synonym: "X-linked cutis laxa" EXACT [Orphanet:198]
xref: DOID:0111272 {source="MONDO:equivalentTo"}
xref: GARD:4017 {source="MONDO:GARD"}
xref: ICD10CM:E83.0 {source="Orphanet:198/attributed", source="Orphanet:198/ntbt", source="Orphanet:198"}
xref: MEDGEN:82793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537860 {source="Orphanet:198/e", source="MONDO:equivalentTo", source="Orphanet:198"}
xref: NANDO:1200654 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200581 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:304150 {source="Orphanet:198/e", source="MONDO:equivalentTo", source="Orphanet:198"}
xref: Orphanet:198 {source="MONDO:equivalentTo", source="OMIM:304150"}
xref: SCTID:59399004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268353 {source="MEDGEN:82793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:198"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0017762 {source="Orphanet:198"} ! disorder of copper metabolism
is_a: MONDO:0100237 {source="MESH:C537860", source="Orphanet:198"} ! inherited cutis laxa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/869 {source="MONDO:mim2gene_medgen"} ! ATP7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010573
name: cutis verticis gyrata, thyroid aplasia, and intellectual disability
synonym: "Akesson syndrome" RELATED [GARD:0000578]
synonym: "cutis verticis gyrata, thyroaplasia and mental deficiency syndrome" RELATED [GARD:0000578]
synonym: "cutis verticis gyrata, thyroid aplasia, and intellectual disability" EXACT [OMIM:304200]
synonym: "cutis verticis gyrata, thyroid aplasia, and mental retardation" EXACT DEPRECATED [OMIM:304200]
synonym: "cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome" EXACT [GARD:0000578, Orphanet:79482]
synonym: "cutis verticis gyrata-thyroid aplasia-mental retardation syndrome" RELATED DEPRECATED [GARD:0000578]
xref: MEDGEN:162779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535610 {source="MONDO:equivalentTo"}
xref: OMIM:304200 {source="MONDO:equivalentTo"}
xref: Orphanet:79482 {source="OMIM:304200", source="MONDO:equivalentObsolete"}
xref: UMLS:C0795848 {source="MEDGEN:162779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010574
name: syndromic X-linked intellectual disability 5
def: "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." [Orphanet:1568]
comment: Editor note: check relationship to friend syndrome
subset: gard_rare {source="GARD:8520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85329", source="Orphanet:1568"}
subset: ordo_malformation_syndrome {source="Orphanet:85329", source="Orphanet:1568"}
subset: orphanet_rare {source="Orphanet:85329", source="Orphanet:1568"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures" RELATED [GARD:0008520]
synonym: "fried syndrome" RELATED [DOID:0060800]
synonym: "intellectual disability X-linked syndromic 5" RELATED [GARD:0008520]
synonym: "intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures" RELATED [GARD:0008520]
synonym: "intellectual disability, X-linked 59" RELATED [OMIM:304340]
synonym: "intellectual disability, X-linked syndromic 5" EXACT [DOID:0060800]
synonym: "intellectual disability, X-linked, syndromic 21" RELATED [OMIM:304340]
synonym: "intellectual disability, X-linked, syndromic 5" RELATED [OMIM:304340]
synonym: "intellectual disability, X-linked, syndromic, fried type" RELATED [OMIM:304340]
synonym: "intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED [OMIM:304340]
synonym: "mental retardation X-linked syndromic 5" RELATED DEPRECATED [GARD:0008520]
synonym: "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures" RELATED DEPRECATED [GARD:0008520]
synonym: "mental retardation, X-linked 59" RELATED DEPRECATED [OMIM:304340]
synonym: "mental retardation, X-linked syndromic 5" EXACT DEPRECATED [DOID:0060800]
synonym: "mental retardation, X-linked, syndromic 21" RELATED DEPRECATED [OMIM:304340]
synonym: "mental retardation, X-linked, syndromic 5" RELATED DEPRECATED [OMIM:304340]
synonym: "mental retardation, X-linked, syndromic, fried type" RELATED DEPRECATED [OMIM:304340]
synonym: "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED DEPRECATED [OMIM:304340]
synonym: "MRX59" EXACT ABBREVIATION [DOID:0060800]
synonym: "MRXS21" EXACT ABBREVIATION [DOID:0060800]
synonym: "MRXS5" RELATED ABBREVIATION [GARD:0008520]
synonym: "PETTIGREW syndrome" RELATED [MONDO:Lexical, OMIM:304340]
synonym: "Pettigrew syndrome" EXACT [DOID:0060800]
synonym: "Pettigrew syndrome, X-linked recessive" EXACT [OMIM:304340, OMIM:genemap2]
synonym: "PGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304340]
synonym: "syndromic X-linked intellectual disability 21" EXACT [DOID:0060800]
synonym: "syndromic X-linked intellectual disability fried type" EXACT [DOID:0060800]
synonym: "syndromic X-linked intellectual disability type 5" EXACT [DOID:0060800, MONDORULE:1]
synonym: "syndromic X-linked mental retardation 21" EXACT DEPRECATED [DOID:0060800]
synonym: "syndromic X-linked mental retardation fried type" EXACT DEPRECATED [DOID:0060800]
synonym: "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures" RELATED [GARD:0008520]
synonym: "X-linked intellectual disability 59" EXACT [DOID:0060800]
synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [DOID:0060800]
synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" EXACT [MONDO:0019425]
synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome" EXACT OMO:0003005 []
synonym: "X-linked mental retardation 59" EXACT DEPRECATED [DOID:0060800]
synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [DOID:0060800]
xref: DOID:0060800 {source="MONDO:equivalentTo"}
xref: GARD:8520 {source="MONDO:GARD"}
xref: ICD10CM:Q23.8 {source="Orphanet:1568", source="Orphanet:1568/attributed", source="Orphanet:1568/ntbt"}
xref: ICD10CM:Q87.8 {source="DOID:0060800", source="Orphanet:85329", source="Orphanet:85329/attributed", source="Orphanet:85329/ntbt"}
xref: MEDGEN:162924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124839 {source="MONDO:equivalentTo"}
xref: OMIM:304340 {source="MONDO:equivalentTo", source="DOID:0060800", source="Orphanet:1568", source="Orphanet:1568/ntbt"}
xref: Orphanet:1568 {source="MONDO:equivalentTo", source="DOID:0060800", source="MONDO:preferredExternal", source="OMIM:304340"}
xref: Orphanet:85329 {source="MONDO:equivalentTo"}
xref: Orphanet:85335 {source="DOID:0060800", source="MONDO:directSiblingOf", source="OMIM:304340"}
xref: SCTID:719139003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796254 {source="MEDGEN:162924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124839"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:85329"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0020119 {source="DC-OMIM:304340", source="DOID:0060800", source="OMIM:304340", source="Orphanet:1568", source="Orphanet:85329", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1568", source="Orphanet:1568/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010575
name: deafness-hypogonadism syndrome
def: "This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior." [Orphanet:90646]
subset: gard_rare {source="GARD:1691", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90646"}
subset: ordo_malformation_syndrome {source="Orphanet:90646"}
subset: orphanet_rare {source="Orphanet:90646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness hypogonadism syndrome" RELATED [GARD:0001691]
synonym: "deafness-hypogonadism syndrome" EXACT [MONDO:Lexical, OMIM:304350]
synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304350]
xref: GARD:1691 {source="MONDO:GARD"}
xref: MEDGEN:335003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564435 {source="MONDO:equivalentTo"}
xref: OMIM:304350 {source="Orphanet:90646/e", source="MONDO:equivalentTo", source="Orphanet:90646"}
xref: Orphanet:90646 {source="MONDO:equivalentTo", source="OMIM:304350"}
xref: UMLS:C1844680 {source="MEDGEN:335003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome" xsd:anyURI {source="GARD:0001691"}

[Term]
id: MONDO:0010576
name: X-linked mixed hearing loss with perilymphatic gusher
def: "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss." [Orphanet:383]
subset: gard_rare {source="GARD:4504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central hearing loss" BROAD [DOID:10003, ICD9CM:389.14]
synonym: "conductive deafness with stapes fixation" NARROW [Orphanet:383]
synonym: "deafness 3 conductive with stapes fixation" RELATED [GARD:0004504]
synonym: "deafness 3, conductive, with stapes fixation" RELATED [OMIM:304400]
synonym: "deafness conductive with stapes fixation" RELATED [GARD:0004504]
synonym: "deafness mixed with perilymphatic gusher" RELATED [GARD:0004504]
synonym: "deafness mixed with perilymphatic gusher, X-linked" NARROW [GARD:0001694]
synonym: "deafness, conductive, with stapes fixation" RELATED [OMIM:304400]
synonym: "deafness, mixed, with perilymphatic gusher" RELATED [OMIM:304400]
synonym: "deafness, X-linked 2" RELATED [MONDO:Lexical, OMIM:304400]
synonym: "deafness, X-linked 2, X-linked recessive" NARROW [OMIM:304400, OMIM:genemap2]
synonym: "deafness, X-linked type 2" NARROW [MONDORULE:1, OMIM:304400]
synonym: "DFN 3 nonsyndromic hearing loss and deafness" RELATED [GARD:0004504]
synonym: "DFN3" RELATED ABBREVIATION [GARD:0004504]
synonym: "DFNX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:304400, Orphanet:383]
synonym: "gusher syndrome" RELATED [GARD:0004504]
synonym: "high frequency deafness" BROAD [DOID:10003]
synonym: "high frequency hearing loss" BROAD [DOID:10003, NCIT:C34663]
synonym: "high-frequency hearing loss" BROAD [DOID:10003]
synonym: "Nance deafness" NARROW [OMIM:304400, Orphanet:383]
synonym: "perceptive deafness" BROAD [DOID:10003]
synonym: "perceptive hearing loss" BROAD [DOID:10003]
synonym: "perceptive hearing loss or deafness" BROAD [DOID:10003]
synonym: "perilymphatic gusher-deafness syndrome" RELATED [OMIM:304400]
synonym: "sensorineural deafness" BROAD [DOID:10003, NCIT:C26739]
synonym: "sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear" RELATED [OMIM:304400]
synonym: "sensorineural hearing loss" BROAD [MONDO:ambiguous]
synonym: "sensory hearing loss" BROAD [DOID:10003, ICD9CM:389.11]
synonym: "X-linked deafness type 2" NARROW [Orphanet:383]
synonym: "X-linked mixed conductive and neurosensory deafness" NARROW [Orphanet:383]
synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT [Orphanet:383]
synonym: "X-linked mixed conductive and sensorineural deafness" NARROW [Orphanet:383]
synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT [Orphanet:383]
synonym: "X-linked mixed deafness with perilymphatic gusher" NARROW [OMIM:304400]
synonym: "X-linked mixed hearing loss with perilymphatic gusher" EXACT CLINGEN_LABEL []
synonym: "X-linked stapes gusher syndrome" EXACT [Orphanet:383]
xref: DOID:0111737 {source="MONDO:equivalentTo"}
xref: DOID:10003 {source="EFO:1001176", source="MONDO:relatedTo"}
xref: GARD:4504 {source="MONDO:GARD"}
xref: ICD10CM:H90.5 {source="DOID:10003"}
xref: ICD10CM:H90.8 {source="Orphanet:383/attributed", source="Orphanet:383/ntbt", source="Orphanet:383"}
xref: ICD10CM:H91.9 {source="DOID:10003"}
xref: ICD9:389.1 {source="EFO:1001176", source="DOID:10003"}
xref: ICD9:389.10 {source="DOID:10003"}
xref: ICD9:389.14 {source="DOID:10003"}
xref: MedDRA:10040016 {source="EFO:1001176"}
xref: MEDGEN:336750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006313 {source="EFO:1001176", source="DOID:10003"}
xref: MESH:D006316 {source="DOID:10003"}
xref: MESH:D006319 {source="DOID:10003"}
xref: NCIT:C26739 {source="EFO:1001176", source="DOID:10003"}
xref: NCIT:C34662 {source="DOID:10003"}
xref: NCIT:C34663 {source="DOID:10003"}
xref: OMIM:304400 {source="Orphanet:383/e", source="MONDO:equivalentTo", source="Orphanet:383", source="DOID:10003"}
xref: Orphanet:383 {source="MONDO:equivalentObsolete", source="OMIM:304400"}
xref: SCTID:155256000 {source="DOID:10003"}
xref: SCTID:194421002 {source="DOID:10003"}
xref: SCTID:194427003 {source="DOID:10003"}
xref: SCTID:232326009 {source="DOID:10003"}
xref: SCTID:267770004 {source="DOID:10003"}
xref: SCTID:48758008 {source="DOID:10003"}
xref: SCTID:60700002 {source="EFO:1001176", source="DOID:10003"}
xref: SCTID:68467004 {source="DOID:10003"}
xref: UMLS:C1844678 {source="MEDGEN:336750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="DOID:10003"} ! inner ear disorder
is_a: MONDO:0016297 {source="MONDO:Redundant", source="Orphanet:383"} ! prelingual non-syndromic genetic hearing loss
is_a: MONDO:0019586 {source="DC-OMIM:304400", source="OMIM:304400"} ! X-linked nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010577
name: hearing loss, X-linked 1
subset: gard_rare {source="GARD:18098", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, X-linked 1" NARROW [MONDO:Lexical, OMIM:304500, OMIM:genemap2]
synonym: "deafness, X-linked 2, sensorineural congenital" NARROW [OMIM:304500]
synonym: "deafness, X-linked type 1" NARROW [MONDORULE:1, OMIM:304500]
synonym: "DFNX1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:304500]
xref: DOID:0111739 {source="MONDO:equivalentTo"}
xref: GARD:18098 {source="MONDO:GARD"}
xref: MEDGEN:336749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564433 {source="MONDO:equivalentTo"}
xref: OMIM:304500 {source="MONDO:equivalentTo"}
xref: Orphanet:90625 {source="OMIM:304500"}
xref: UMLS:C1844677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336749"}
is_a: MONDO:0019586 {source="DC-OMIM:304500", source="OMIM:304500"} ! X-linked nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010578
name: deafness dystonia syndrome
def: "An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." [Orphanet:52368]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52368"}
subset: orphanet_rare {source="Orphanet:52368"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DDON syndrome" EXACT [Orphanet:52368]
synonym: "DDP" RELATED ABBREVIATION [GARD:0008331]
synonym: "deafness - dystonia - optic neuronopathy syndrome" RELATED [GARD:0008331]
synonym: "deafness dystonia optic atrophy syndrome" EXACT [DOID:0050757]
synonym: "deafness dystonia optic neuronopathy syndrome" EXACT [DOID:0050757]
synonym: "deafness dystonia optic neuronopathy syndrome (DDON)" EXACT [DOID:0050757]
synonym: "deafness dystonia syndrome" EXACT CLINGEN_LABEL []
synonym: "deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency" RELATED [OMIM:304700]
synonym: "deafness-Dystonia-optic atrophy syndrome" RELATED [OMIM:304700]
synonym: "deafness-dystonia-optic neuronopathy (DDON) syndrome" RELATED [GARD:0008331]
synonym: "deafness-dystonia-optic neuronopathy syndrome" EXACT [Orphanet:52368]
synonym: "dystonia deafness syndrome" EXACT [DOID:0050757]
synonym: "dystonia-deafness syndrome" RELATED [OMIM:304700]
synonym: "MOHR-Tranebjaerg syndrome" RELATED [MONDO:Lexical, OMIM:304700]
synonym: "Mohr-Tranebjaerg syndrome" EXACT [DOID:0050757]
synonym: "Mohr-Tranebjaerg syndrome, X-linked recessive" EXACT [OMIM:304700, OMIM:genemap2]
synonym: "MTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304700]
xref: DOID:0050757 {source="MONDO:equivalentTo"}
xref: GARD:8331 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:52368/attributed", source="Orphanet:52368/ntbt", source="Orphanet:52368"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:162903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535808 {source="Orphanet:52368", source="MONDO:equivalentTo", source="Orphanet:52368/e"}
xref: OMIM:304700 {source="Orphanet:52368", source="MONDO:equivalentTo", source="DOID:0050757", source="Orphanet:52368/e"}
xref: Orphanet:52368 {source="MONDO:equivalentTo", source="OMIM:304700"}
xref: SCTID:702423009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796074 {source="MEDGEN:162903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:52368"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0016802 {source="Orphanet:52368", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial protein import disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:52368", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11817 {source="MONDO:mim2gene_medgen"} ! TIMM8A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010579
name: X-linked corneal dermoid
def: "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." [Orphanet:1661]
subset: gard_rare {source="GARD:2580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1661"}
subset: orphanet_rare {source="Orphanet:1661"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral corneal dermoids" RELATED [MESH:C535376]
synonym: "CND" RELATED ABBREVIATION [GARD:0002580, MESH:C535376, MONDO:Lexical, OMIM:304730]
synonym: "corneal dermoids and short stature" RELATED [MESH:C535376]
synonym: "corneal dystrophy epithelial-short stature syndrome" EXACT [Orphanet:1661]
synonym: "dermoids of cornea" RELATED [MONDO:Lexical, OMIM:304730]
synonym: "Guizar-Vazquez Luengas-Munoz syndrome" RELATED [MESH:C535376]
synonym: "Guízar Vázquez-Luengas-muñoz syndrome" EXACT [Orphanet:1661]
xref: GARD:2580 {source="MONDO:GARD"}
xref: ICD10CM:Q13.4 {source="Orphanet:1661/attributed", source="Orphanet:1661/ntbt", source="Orphanet:1661"}
xref: MEDGEN:375481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535376 {source="MONDO:equivalentTo"}
xref: OMIM:304730 {source="Orphanet:1661", source="MONDO:equivalentTo", source="Orphanet:1661/e", source="GARD:0002580"}
xref: Orphanet:1661 {source="OMIM:304730", source="MONDO:equivalentTo"}
xref: SCTID:715426004 {source="MONDO:equivalentTo"}
xref: UMLS:C1844671 {source="MEDGEN:375481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="MESH:C535376", source="MONDO:Redundant"} ! corneal disorder
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2580/dermoids-of-cornea" xsd:anyURI {source="GARD:0002580"}

[Term]
id: MONDO:0010580
name: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
def: "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." [Orphanet:37042]
subset: gard_rare {source="GARD:1850", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:37042"}
subset: orphanet_rare {source="Orphanet:37042"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autoimmune enteropathy type 1" EXACT [DOID:0090110, Orphanet:37042]
synonym: "autoimmunity-immunodeficiency syndrome X-linked" RELATED [GARD:0001850]
synonym: "autoimmunity-immunodeficiency syndrome, X-linked" EXACT [DOID:0090110]
synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" EXACT [DOID:0090110]
synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea" EXACT OMO:0003005 []
synonym: "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" EXACT [DOID:0090110]
synonym: "DMSD" EXACT ABBREVIATION [DOID:0090110]
synonym: "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy" RELATED OMO:0003005 []
synonym: "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy" RELATED [OMIM:304790]
synonym: "IDDM secretory diarrhea syndrome" RELATED [GARD:0001850]
synonym: "IDDM secretory diarrhoea syndrome" RELATED OMO:0003005 []
synonym: "IDDM-secretory diarrhea syndrome" EXACT [DOID:0090110]
synonym: "Iddm-secretory diarrhea syndrome" RELATED [OMIM:304790]
synonym: "IDDM-secretory diarrhoea syndrome" EXACT OMO:0003005 []
synonym: "Iddm-secretory diarrhoea syndrome" RELATED OMO:0003005 []
synonym: "immune dysfunction and diarrhea syndrome" EXACT [NCIT:C131009]
synonym: "immune dysfunction and diarrhoea syndrome" EXACT OMO:0003005 []
synonym: "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome" EXACT [NCIT:C131009]
synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110]
synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly" RELATED [OMIM:304790]
synonym: "Immunodysregulation, polyendocrinopathy and enteropathy X-linked" RELATED [GARD:0001850]
synonym: "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked" RELATED [MONDO:Lexical, OMIM:304790]
synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110]
synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive" EXACT [OMIM:304790, OMIM:genemap2]
synonym: "IPEX" EXACT ABBREVIATION [DOID:0090110, MONDO:Lexical, OMIM:304790, Orphanet:37042]
synonym: "IPEX syndrome" RELATED [GARD:0001850]
synonym: "islets of Langerhans, absence of" RELATED [OMIM:304790]
synonym: "polyendocrinopathy, immune dysfunction and diarrhea X-linked" RELATED [GARD:0001850]
synonym: "polyendocrinopathy, immune dysfunction and diarrhoea X-linked" RELATED OMO:0003005 []
synonym: "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" RELATED [OMIM:304790]
synonym: "X linked polyendocrinopathy" EXACT [NCIT:C131009]
synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [DOID:0090110, OMIM:304790]
synonym: "XLAAD" EXACT ABBREVIATION [DOID:0090110]
synonym: "XPID" EXACT ABBREVIATION [DOID:0090110]
xref: DOID:0090110 {source="MONDO:equivalentTo"}
xref: GARD:1850 {source="MONDO:GARD"}
xref: ICD10CM:E31.0 {source="DOID:0090110", source="Orphanet:37042", source="MONDO:directSiblingOf", source="Orphanet:37042/attributed", source="Orphanet:37042/ntbt"}
xref: ICD9:250.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580192 {source="MONDO:equivalentTo"}
xref: NANDO:2200924 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131009 {source="MONDO:equivalentTo"}
xref: OMIM:304790 {source="DOID:0090110", source="MONDO:equivalentTo", source="Orphanet:37042", source="Orphanet:37042/e"}
xref: Orphanet:37042 {source="DOID:0090110", source="MONDO:equivalentTo", source="OMIM:304790"}
xref: SCTID:237618001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342288 {source="MEDGEN:83339", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000605 {source="DOID:0090110", source="MONDO:Redundant", source="MONDO:indirect"} ! hypersensitivity reaction disease
is_a: MONDO:0002254 {source="NCIT:C131009"} ! syndromic disease
is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:37042", source="Orphanet:37042/inferred"} ! intestinal disorder
is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:37042", source="Orphanet:37042/inferred"} ! endocrine system disorder
is_a: MONDO:0015126 {source="Orphanet:37042"} ! polyendocrinopathy
is_a: MONDO:0019787 {source="Orphanet:37042"} ! autoimmune enteropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513", source="MONDO:0015616"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6106 {source="MONDO:mim2gene_medgen"} ! FOXP3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010581
name: diabetes insipidus, nephrogenic, X-linked
subset: gard_rare {source="GARD:15289", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diabetes insipidus, nephrogenic, 1, X-linked recessive" EXACT [OMIM:304800, OMIM:genemap2]
synonym: "diabetes insipidus, nephrogenic, type 1" RELATED [OMIM:304800]
synonym: "diabetes insipidus, nephrogenic, X-linked" EXACT CLINGEN_LABEL [OMIM:304800]
synonym: "Ndi" RELATED [OMIM:304800]
xref: DOID:0081060 {source="MONDO:equivalentTo"}
xref: GARD:15289 {source="MONDO:GARD"}
xref: MEDGEN:288785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:304800 {source="MONDO:equivalentTo"}
xref: Orphanet:223 {source="OMIM:304800"}
xref: UMLS:C1563705 {source="MEDGEN:288785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004782 {source="DC-OMIM:304800", source="MONDO:Redundant", source="MONDO:indirect"} ! diabetes insipidus
is_a: MONDO:0016383 {source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/897 {source="MONDO:mim2gene_medgen"} ! AVPR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010582
name: obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance
comment: The latest evidence for the existence of this form of this disease is from 1967, and was weak. From OMIM: "The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone is weak."
synonym: "diabetes insipidus, neurohypophyseal type" EXACT [OMIM:304900]
xref: DOID:0081059 {source="MONDO:obsoleteEquivalent"}
xref: GARD:18603 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:304900 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:178029 {source="OMIM:304900"}
xref: Orphanet:30925 {source="OMIM:304900"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/1914" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0010583
name: Dyggve-Melchior-Clausen syndrome, X-linked
def: "X-linked form of Dyggve-Melchior-Clausen disease." [MONDO:patterns/x_linked]
subset: gard_rare {source="GARD:15290", source="MONDO:GARD"}
subset: rare
synonym: "Dyggve-Melchior-Clausen disease, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked]
synonym: "Dyggve-Melchior-Clausen syndrome, X-linked" EXACT [OMIM:304950]
synonym: "X-linked Dyggve-Melchior-Clausen disease" EXACT [MONDO:design_pattern]
xref: GARD:15290 {source="MONDO:GARD"}
xref: MEDGEN:337052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:304950 {source="MONDO:equivalentTo"}
xref: Orphanet:239 {source="OMIM:304950"}
xref: UMLS:C1844654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337052"}
is_a: MONDO:0009130 {source="MONDO:Redundant", source="Orphanet:239/btnt"} ! Dyggve-Melchior-Clausen disease
intersection_of: MONDO:0009130 ! Dyggve-Melchior-Clausen disease
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance

[Term]
id: MONDO:0010584
name: dyskeratosis congenita, X-linked
def: "X-linked form of dyskeratosis congenita." [MONDO:patterns/x_linked]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2007", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar hypoplasia with pancytopenia" RELATED [OMIM:305000]
synonym: "DKCX" EXACT ABBREVIATION [DOID:0070025, GARD:0002007, MONDO:Lexical, OMIM:305000]
synonym: "dyskeratosis congenita X-linked" RELATED [GARD:0002007]
synonym: "dyskeratosis congenita, X-linked" EXACT CLINGEN_LABEL [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:305000]
synonym: "dyskeratosis congenita, X-linked, X-linked recessive" EXACT [OMIM:305000, OMIM:genemap2]
synonym: "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia" RELATED [OMIM:305000]
synonym: "Hoyeraal Hreidarsson syndrome" EXACT [NCIT:C126352, OMIM:305000]
synonym: "X-linked dyskeratosis congenita" EXACT [DOID:0070025, GARD:0002007]
synonym: "Zinsser-Cole-Engman syndrome" EXACT [DOID:0070025, OMIM:305000]
xref: DOID:0070025 {source="MONDO:equivalentTo"}
xref: GARD:2007 {source="MONDO:GARD"}
xref: MEDGEN:216941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126352 {source="MONDO:equivalentTo"}
xref: OMIM:305000 {source="DOID:0070025", source="MONDO:equivalentTo"}
xref: Orphanet:1775 {source="OMIM:305000"}
xref: Orphanet:3322 {source="OMIM:305000"}
xref: SCTID:708536001 {source="MONDO:equivalentTo"}
xref: UMLS:C1148551 {source="MEDGEN:216941", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100152 {source="https://clinicalgenome.org/affiliation/40006/"} ! DKC1-related disorder
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2890 {source="MONDO:mim2gene_medgen"} ! DKC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010585
name: X-linked hypohidrotic ectodermal dysplasia
def: "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." [MESH:D053358]
subset: gard_rare {source="GARD:10427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:181"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:181"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anhidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427]
synonym: "Christ-Siemens-Touraine syndrome" EXACT [Orphanet:181]
synonym: "CST syndrome" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia 1" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked" RELATED [MONDO:Lexical, OMIM:305100]
synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" EXACT [OMIM:305100, OMIM:genemap2]
synonym: "ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia, anhidrotic, X-linked" RELATED [OMIM:305100]
synonym: "ectodermal dysplasia, hypohidrotic, 1" RELATED [OMIM:305100]
synonym: "Eda1" RELATED [OMIM:305100]
synonym: "hypohidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427]
synonym: "hypohidrotic ectodermal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT [Orphanet:181]
synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT CLINGEN_LABEL []
synonym: "XHED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:305100, Orphanet:181]
synonym: "Xlhed" RELATED [OMIM:305100]
xref: DOID:0111664 {source="MONDO:equivalentTo"}
xref: GARD:10427 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:181", source="Orphanet:181/attributed", source="Orphanet:181/ntbt"}
xref: MEDGEN:57890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053358 {source="Orphanet:181", source="Orphanet:181/e"}
xref: OMIM:305100 {source="MONDO:equivalentTo", source="Orphanet:181", source="Orphanet:181/e"}
xref: Orphanet:181 {source="OMIM:305100", source="MONDO:equivalentTo"}
xref: Orphanet:238468 {source="OMIM:305100"}
xref: SCTID:239007005 {source="MONDO:equivalentTo"}
xref: UMLS:C0162359 {source="MONDO:equivalentTo", source="MEDGEN:57890", source="MONDO:MEDGEN"}
is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:181"} ! hypohidrotic ectodermal dysplasia
is_a: MONDO:0019287 {source="MONDO:0010585/inferred", source="MONDO:Redundant", source="OMIM:305100", source="Orphanet:181/inferred"} ! ectodermal dysplasia syndrome
intersection_of: MONDO:0016535 ! hypohidrotic ectodermal dysplasia
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3157 {source="MONDO:mim2gene_medgen"} ! EDA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4104" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010586
name: X-linked Ehlers-Danlos syndrome
def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." [Orphanet:75497]
subset: gard_rare {source="GARD:8505", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:75497"}
subset: orphanet_rare {source="Orphanet:75497"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS 5" RELATED [OMIM:305200]
synonym: "EDS V" EXACT [Orphanet:75497]
synonym: "EDS5" RELATED ABBREVIATION [OMIM:305200]
synonym: "Ehlers-Danlos syndrome type 5" EXACT [Orphanet:75497]
synonym: "Ehlers-Danlos syndrome, type 5" RELATED [OMIM:305200]
synonym: "Ehlers-Danlos syndrome, type V" RELATED [OMIM:305200]
synonym: "Ehlers-Danlos syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
xref: GARD:8505 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:75497", source="Orphanet:75497/attributed", source="Orphanet:75497/ntbt"}
xref: MEDGEN:75671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536197 {source="Orphanet:75497", source="MONDO:equivalentTo", source="Orphanet:75497/e"}
xref: NCIT:C141423 {source="MONDO:equivalentTo"}
xref: OMIM:305200 {source="Orphanet:75497", source="MONDO:equivalentObsolete", source="Orphanet:75497/e"}
xref: Orphanet:75497 {source="OMIM:305200", source="MONDO:equivalentTo"}
xref: SCTID:67202007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75671"}
is_a: MONDO:0020066 {source="DC-OMIM:305200", source="MESH:C536197", source="MONDO:Redundant", source="NCIT:C141423", source="Orphanet:75497"} ! Ehlers-Danlos syndrome
intersection_of: MONDO:0020066 ! Ehlers-Danlos syndrome
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance

[Term]
id: MONDO:0010587
name: epidermodysplasia verruciformis, X-linked
def: "X-linked form of epidermodysplasia verruciformis." [MONDO:patterns/x_linked]
subset: gard_rare {source="GARD:15291", source="MONDO:GARD"}
subset: rare
synonym: "EDV2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305350]
synonym: "EDVX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305350]
synonym: "epidermodysplasia verruciformis, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked epidermodysplasia verruciformis" EXACT [MONDO:design_pattern]
xref: GARD:15291 {source="MONDO:GARD"}
xref: MEDGEN:337033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564430 {source="MONDO:equivalentTo"}
xref: OMIM:305350 {source="MONDO:equivalentTo"}
xref: Orphanet:302 {source="OMIM:305350"}
xref: UMLS:C1844589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337033"}
is_a: MONDO:0009176 {source="MESH:C564430", source="MONDO:Redundant", source="Orphanet:302/btnt"} ! epidermodysplasia verruciformis
intersection_of: MONDO:0009176 ! epidermodysplasia verruciformis
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0010588
name: exudative vitreoretinopathy 2, X-linked
def: "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15292", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EVR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305390]
synonym: "Evrx" RELATED [OMIM:305390]
synonym: "exudative vitreoretinopathy 2, X-linked" EXACT [MONDO:Lexical, OMIM:305390]
synonym: "exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant" EXACT [OMIM:305390, OMIM:genemap2]
synonym: "exudative vitreoretinopathy caused by mutation in NDP" EXACT [MONDO:design_pattern]
synonym: "exudative vitreoretinopathy, familial, 2" RELATED [OMIM:305390]
synonym: "Fevr, X-linked" RELATED [OMIM:305390]
synonym: "NDP exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111413 {source="MONDO:equivalentTo"}
xref: GARD:15292 {source="MONDO:GARD"}
xref: MEDGEN:337030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564428 {source="MONDO:equivalentTo"}
xref: OMIM:305390 {source="MONDO:equivalentTo"}
xref: Orphanet:891 {source="OMIM:305390"}
xref: UMLS:C1844579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337030"}
is_a: MONDO:0019516 {source="DC-OMIM:305390", source="MONDO:Redundant", source="OMIM:305390"} ! exudative vitreoretinopathy
intersection_of: MONDO:0019516 ! exudative vitreoretinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7678 ! NDP
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7678 {source="MONDO:mim2gene_medgen"} ! NDP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010589
name: Aarskog-Scott syndrome, X-linked
def: "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." [Orphanet:915]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aarskog disease" BROAD [MESH:C535331]
synonym: "Aarskog Scott syndrome" RELATED [GARD:0004775]
synonym: "Aarskog syndrome" BROAD [Orphanet:915]
synonym: "Aarskog syndrome, X-linked" EXACT [OMIM:305400]
synonym: "Aarskog-like syndrome" BROAD [MESH:C535331]
synonym: "Aarskog-Scott syndrome" BROAD [MESH:C535331, MONDO:Lexical, OMIM:305400]
synonym: "Aarskog-Scott syndrome, X-linked" EXACT CLINGEN_LABEL []
synonym: "Aarskog-Scott syndrome, X-linked recessive" EXACT [OMIM:305400, OMIM:genemap2]
synonym: "AAS" BROAD ABBREVIATION [MESH:C535331, MONDO:Lexical, OMIM:305400]
synonym: "facio-digito-genital dysplasia" BROAD [MESH:C535331]
synonym: "faciodigitogenital syndrome" BROAD [MESH:C535331, OMIM:305400, Orphanet:915]
synonym: "faciodigitogenital syndrome, recessive" BROAD [MESH:C535331]
synonym: "faciogenital dysplasia" BROAD [MESH:C535331, OMIM:305400, Orphanet:915]
synonym: "faciogenital dysplasia with attention Deficit-hyperactivity disorder" RELATED [OMIM:305400]
synonym: "FGD" BROAD ABBREVIATION [NCIT:C129720]
synonym: "FGDY" BROAD ABBREVIATION [MESH:C535331]
synonym: "mental retardation, X-linked syndromic 16, X-linked recessive" EXACT [OMIM:305400, OMIM:genemap2]
synonym: "mental retardation, X-linked, syndromic 16" NARROW DEPRECATED [OMIM:305400]
synonym: "mental retardation, X-linked, syndromic 16, included" NARROW DEPRECATED [MESH:C535331]
synonym: "MRXS16, included" NARROW [MESH:C535331]
synonym: "Scott Aarskog syndrome" BROAD [MESH:C535331]
xref: DOID:6683 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q87.1 {source="Orphanet:915"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10067148 {source="Orphanet:915"}
xref: MEDGEN:61234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535331 {source="MONDO:equivalentTo"}
xref: NCIT:C129720 {source="MONDO:equivalentTo"}
xref: OMIM:305400 {source="MONDO:equivalentTo", source="Orphanet:915"}
xref: Orphanet:915 {source="MONDO:mondoIsNarrowerThanSource"}
xref: SCTID:14921002 {source="MONDO:equivalentTo"}
xref: UMLS:C0175701 {source="MEDGEN:61234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="MESH:C535331", source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0002010 {source="OMIM:305400"} ! FG syndrome
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129720"} ! syndromic disease
is_a: MONDO:0021005 ! faciodigitogenital syndrome
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:915", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:915", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:305400", source="Orphanet:915", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3663 {source="MONDO:mim2gene_medgen"} ! FGD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010590
name: FG syndrome 1
def: "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:2317", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1142"}
subset: ordo_disorder {source="Orphanet:93932"}
subset: orphanet_rare {source="Orphanet:93932"}
subset: rare
synonym: "FG syndrome" RELATED [OMIM:305450]
synonym: "FG syndrome 1" EXACT [OMIM:305450]
synonym: "FG syndrome caused by mutation in MED12" EXACT [MONDO:design_pattern]
synonym: "FG Syndrome Type 1" EXACT [NORD:1142]
synonym: "FG syndrome type 1" RELATED [Orphanet:93932]
synonym: "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [OMIM:305450]
synonym: "Keller syndrome" RELATED [OMIM:305450]
synonym: "MED12 FG syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED DEPRECATED [OMIM:305450]
synonym: "OKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305450]
synonym: "Opitz-Kaveggia syndrome" RELATED [MONDO:Lexical, OMIM:305450]
synonym: "Opitz-Kaveggia syndrome, X-linked recessive" EXACT [OMIM:305450, OMIM:genemap2]
xref: GARD:2317 {source="MONDO:GARD"}
xref: MEDGEN:1768809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1142 {source="MONDO:NORD"}
xref: OMIM:305450 {source="MONDO:equivalentTo"}
xref: Orphanet:323 {source="OMIM:305450"}
xref: Orphanet:93932 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C5399762 {source="MEDGEN:1768809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002010 {source="DC-OMIM:305450", source="MONDO:Redundant"} ! FG syndrome
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0100000 {source="MONDO:Redundant"} ! MED12-related intellectual disability syndrome
intersection_of: MONDO:0002010 ! FG syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11957 ! MED12
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:93932", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:93932", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:93932", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11957 {source="MONDO:mim2gene_medgen"} ! MED12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010591
name: fingerprint body myopathy
def: "Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission." [Orphanet:97232]
subset: gard_rare {source="GARD:12720", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97232"}
subset: orphanet_rare {source="Orphanet:97232"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fingerprint body myopathy" EXACT [OMIM:305550]
xref: GARD:12720 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:97232/attributed", source="Orphanet:97232/ntbt", source="Orphanet:97232"}
xref: MEDGEN:337026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564425 {source="MONDO:equivalentTo"}
xref: OMIM:305550 {source="Orphanet:97232/e", source="MONDO:equivalentTo", source="Orphanet:97232"}
xref: Orphanet:97232 {source="MONDO:equivalentTo", source="OMIM:305550"}
xref: UMLS:C1844560 {source="MEDGEN:337026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="Orphanet:97232"} ! congenital myopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy" xsd:anyURI {source="GARD:0012720"}

[Term]
id: MONDO:0010592
name: focal dermal hypoplasia
def: "A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems." [Orphanet:2092]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6457", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1152", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2092"}
subset: ordo_malformation_syndrome {source="Orphanet:2092"}
subset: orphanet_rare {source="Orphanet:2092"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DHOF" RELATED ABBREVIATION [GARD:0006457]
synonym: "FDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305600]
synonym: "focal dermal hypoplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:305600]
synonym: "focal dermal hypoplasia, X-linked dominant" EXACT [OMIM:305600, OMIM:genemap2]
synonym: "Fodh" RELATED [OMIM:305600]
synonym: "Goltz Gorlin syndrome" RELATED [GARD:0006457]
synonym: "Goltz syndrome" EXACT [DOID:2120, OMIM:305600, Orphanet:2092]
synonym: "Goltz-Gorlin syndrome" EXACT [OMIM:305600, Orphanet:2092]
xref: DOID:2120 {source="MONDO:equivalentTo"}
xref: GARD:6457 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2092", source="Orphanet:2092/index", source="Orphanet:2092/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:42055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005489 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"}
xref: NCIT:C84715 {source="DOID:2120", source="MONDO:equivalentTo"}
xref: NORD:1152 {source="MONDO:NORD"}
xref: OMIM:305600 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"}
xref: Orphanet:2092 {source="OMIM:305600", source="MONDO:equivalentTo"}
xref: SCTID:205573006 {source="DOID:2120", source="MONDO:equivalentTo"}
xref: SCTID:2298005 {source="DOID:2120"}
xref: UMLS:C0016395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42055"}
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0003900 {source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:2092", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0019287 {source="MESH:D005489", source="Orphanet:2092", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0019294 {source="Orphanet:2092", source="https://orcid.org/0000-0001-5208-3432"} ! mixed dermis disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2092", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:2092", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17652 {source="MONDO:mim2gene_medgen"} ! PORCN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010593
name: obsolete Frontometaphyseal dysplasia
is_obsolete: true
replaced_by: MONDO:0015942

[Term]
id: MONDO:0010594
name: obsolete inherited genitourinary tract anomalies
comment: Reason: out of scope. Term to consider: none
synonym: "genitourinary tract anomalies" EXACT [MONDO:ambiguous, OMIM:305690]
synonym: "inherited genitourinary tract anomalies (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0000119 {source="MONDO:otherHierarchy"}
xref: MESH:C564424 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:305690 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4113" xsd:anyURI
property_value: IAO:0000589 "inherited genitourinary tract anomalies (disease)" xsd:string
is_obsolete: true

[Term]
id: MONDO:0010595
name: Sertoli cell-only syndrome
def: "Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children." [https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome]
comment: Reason: duplicate. This will be merged with MONDO:0056795 X-linked spermatogenic failure 1. Editor note: consider moving OMIMPS from azoospermia to here
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEL CASTILLO syndrome" EXACT [DOID:0050457]
synonym: "Del Castillo syndrome" RELATED [OMIM:305700]
synonym: "Germinal cell aplasia" EXACT [DOID:0050457, OMIM:305700]
synonym: "Sertoli cell-only syndrome" EXACT [OMIM:305700]
xref: DOID:0050457 {source="MONDO:equivalentTo"}
xref: EFO:1001422 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:235163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054331 {source="MONDO:equivalentTo", source="DOID:0050457"}
xref: NCIT:C168988 {source="MONDO:equivalentTo"}
xref: SCTID:73465006 {source="MONDO:equivalentTo", source="DOID:0050457"}
xref: UMLS:C1384583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235163"}
is_a: MONDO:0004983 {source="DC-OMIM:305700", source="OMIM:305700"} ! spermatogenic failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7409" xsd:anyURI
property_value: IAO:0006012 "2024-06-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome" xsd:anyURI {source="GARD:0008406"}

[Term]
id: MONDO:0010596
name: membranoproliferative glomerulonephritis, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "membranoproliferative glomerulonephritis, X-linked" EXACT [OMIM:305800]
synonym: "Mesangiocapillary glomerulonephritis, X-linked" RELATED [OMIM:305800]
xref: MEDGEN:336706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564423 {source="MONDO:equivalentTo"}
xref: OMIM:305800 {source="MONDO:equivalentTo"}
xref: Orphanet:54370 {source="OMIM:305800"}
xref: UMLS:C1844501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336706"}
is_a: MONDO:0018904 {source="Orphanet:54370/btnt"} ! primary membranoproliferative glomerulonephritis

[Term]
id: MONDO:0010597
name: glutamyl ribose-5-phosphate storage disease
synonym: "ADP-ribose Protein hydrolase deficiency" RELATED [OMIM:305920]
synonym: "glutamyl ribose-5-phosphate storage disease" EXACT [OMIM:305920]
xref: MEDGEN:336179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564422 {source="MONDO:equivalentTo"}
xref: OMIM:305920 {source="MONDO:equivalentTo"}
xref: UMLS:C1844440 {source="MEDGEN:336179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564422/inferred"} ! hereditary disease

[Term]
id: MONDO:0010598
name: glycogen storage disease IXa1
def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes." [MONDO:design_pattern]
subset: gard_rare {source="GARD:18386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glycogen storage disease 8" RELATED [GARD:0006538]
synonym: "glycogen storage disease caused by mutation in PHKA2" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease IXa" BROAD [DOID:0111042]
synonym: "glycogen storage disease IXa1" EXACT [MONDO:Lexical, OMIM:306000]
synonym: "glycogen storage disease type 9A" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogen storage disease type IXa" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:5]
synonym: "glycogen storage disease type VIII" EXACT [DOID:2751, EFO:1000952, MONDORULE:3]
synonym: "glycogen storage disease VIII" EXACT [GARD:0006538, MONDO:0006772, OMIM:306000]
synonym: "glycogen storage disease VIII, formerly" RELATED [OMIM:306000]
synonym: "glycogen storage disease, type IXa1, X-linked recessive" EXACT [OMIM:306000, OMIM:genemap2]
synonym: "glycogen storage disease, type IXa2, X-linked recessive" EXACT [OMIM:306000, OMIM:genemap2]
synonym: "glycogenosis type 8" RELATED [GARD:0006538]
synonym: "glycogenosis type 9A" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogenosis type IXa" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogenosis type VIII" EXACT [DOID:2751]
synonym: "GSD type 9A" EXACT [DOID:0111042]
synonym: "GSD type IXa" EXACT [DOID:0111042]
synonym: "GSD VIII" RELATED [OMIM:306000]
synonym: "GSD VIII, formerly" RELATED [OMIM:306000]
synonym: "GSD9A" EXACT ABBREVIATION [DOID:0111042]
synonym: "GSD9A1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306000]
synonym: "hepatic glycogen phosphorylase kinase deficiency" EXACT [DOID:2751]
synonym: "hepatic phosphorylase kinase deficiency" RELATED [GARD:0006538]
synonym: "liver glycogenosis, X-linked, type 1" RELATED [OMIM:306000]
synonym: "PHKA2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHKA2-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "phosphorylase kinase deficiency of liver" RELATED [GARD:0006538]
synonym: "PYKL" RELATED ABBREVIATION [GARD:0006538]
xref: DOID:0111042 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:2751 {source="MONDO:equivalentTo", source="EFO:1000952"}
xref: GARD:18386 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="DOID:0111042"}
xref: MedDRA:10053242 {source="EFO:1000952"}
xref: MEDGEN:854172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564421 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MESH:D006015 {source="DOID:2751", source="MONDO:equivalentTo", source="EFO:1000952"}
xref: NANDO:1200847 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201164 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:306000 {source="MONDO:equivalentTo", source="DOID:0111042", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"}
xref: Orphanet:264580 {source="OMIM:306000"}
xref: SCTID:235908005 {source="EFO:1000952", source="MONDO:directSiblingOf"}
xref: SCTID:297255007 {source="DOID:2751"}
xref: SCTID:41527003 {source="DOID:2751", source="MONDO:equivalentTo"}
xref: UMLS:C3694531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854172"}
is_a: MONDO:0002412 {source="DOID:2751", source="DOID:2751/inferred", source="EFO:1000952", source="MESH:D006015"} ! disorder of glycogen metabolism
is_a: MONDO:0020693 {source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease due to liver phosphorylase kinase deficiency
intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8926 {source="MONDO:mim2gene_medgen"} ! PHKA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8926 {source="MONDO:mim2gene_medgen", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! PHKA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2128" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8" xsd:anyURI {source="GARD:0006538"}

[Term]
id: MONDO:0010599
name: granulomas, congenital cerebral
synonym: "congenital cerebral granulomas" RELATED [GARD:0008368]
synonym: "granulomas, congenital cerebral" EXACT [OMIM:306300]
xref: MEDGEN:336683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537294 {source="MONDO:equivalentTo"}
xref: OMIM:306300 {source="MONDO:equivalentTo"}
xref: UMLS:C1844406 {source="MEDGEN:336683", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8368/granulomas-congenital-cerebral" xsd:anyURI {source="GARD:0008368"}

[Term]
id: MONDO:0010600
name: granulomatous disease, chronic, X-linked
subset: gard_rare {source="GARD:15294", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDGX" EXACT ABBREVIATION [OMIM:306400]
synonym: "CGD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:306400]
synonym: "chronic granulomatous disease, atypical" EXACT [OMIM:306400]
synonym: "chronic granulomatous disease, X-linked" EXACT [OMIM:306400]
synonym: "chronic granulomatous disease, X-linked, X-linked recessive" EXACT [OMIM:306400, OMIM:genemap2]
synonym: "cytochrome B-negative granulomatous disease, chronic, X-linked" EXACT [OMIM:306400]
synonym: "cytochrome B-positive granulomatous disease, chronic, X-linked" EXACT [OMIM:306400]
synonym: "granulomatous disease, chronic, autosomal dominant type" EXACT [OMIM:138990]
synonym: "granulomatous disease, chronic, X-linked" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:306400]
synonym: "granulomatous disease, chronic, X-linked, variant" EXACT [OMIM:306400]
xref: DOID:0070190 {source="MONDO:equivalentObsolete"}
xref: DOID:0070195 {source="MONDO:equivalentTo"}
xref: GARD:15294 {source="MONDO:GARD"}
xref: MEDGEN:336165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564210 {source="MONDO:equivalentTo"}
xref: OMIM:138990 {source="MONDO:equivalentObsolete"}
xref: OMIM:306400 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:379 {source="OMIM:306400"}
xref: UMLS:C1844376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336165"}
is_a: MONDO:0018305 {source="DC-OMIM:138990", source="DC-OMIM:306400", source="MESH:C564210", source="OMIM:306400"} ! chronic granulomatous disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2578 {source="MONDO:mim2gene_medgen"} ! CYBB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3797" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010601
name: obsolete gynecomastia, familial
def: "OBSOLETE. An instance of gynecomastia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Obsoleted in OMIM
synonym: "gynecomastia, familial" EXACT [OMIM:306500]
synonym: "hereditary gynecomastia" EXACT [MONDO:patterns/hereditary]
xref: MESH:C564416 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:306500 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1695" xsd:anyURI
is_obsolete: true
consider: MONDO:0007690
consider: MONDO:0010720

[Term]
id: MONDO:0010602
name: hemophilia A
def: "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." [Orphanet:98878]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1221"}
subset: ordo_disorder {source="Orphanet:98878"}
subset: orphanet_rare {source="Orphanet:98878"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal haemophilia a" RELATED OMO:0003005 []
synonym: "autosomal hemophilia a" RELATED [OMIM:134500]
synonym: "classic haemophilia" RELATED OMO:0003005 []
synonym: "classic hemophilia" RELATED [GARD:0006591]
synonym: "classical haemophilia" RELATED OMO:0003005 []
synonym: "classical hemophilia" RELATED [GARD:0006591]
synonym: "congenital factor VIII disorder" EXACT [DOID:12134, ICD9CM:286.0]
synonym: "factor 8 deficiency" RELATED [GARD:0006591, OMIM:134500]
synonym: "factor VIII deficiency" EXACT [MONDO:0007596, Orphanet:98878]
synonym: "Haemophilia A" RELATED [GARD:0006591]
synonym: "haemophilia A, congenital" RELATED OMO:0003005 []
synonym: "haemophilia a, X-linked recessive" EXACT OMO:0003005 []
synonym: "haemophilia type A" EXACT OMO:0003005 []
synonym: "haemophilia type a" EXACT OMO:0003005 []
synonym: "hem A" RELATED [GARD:0006591]
synonym: "HEMA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306700]
synonym: "hemophilia A" EXACT CLINGEN_LABEL [DOID:12134, MONDO:Lexical, OMIM:306700]
synonym: "hemophilia A, congenital" RELATED [GARD:0006591]
synonym: "hemophilia a, X-linked recessive" EXACT [OMIM:306700, OMIM:genemap2]
synonym: "hemophilia type A" EXACT [MONDORULE:1, Orphanet:98878]
synonym: "hemophilia type a" EXACT [MONDORULE:1, OMIM:306700]
synonym: "hemophilia, classic" RELATED [OMIM:306700]
synonym: "hereditary Factor VIII deficiency" EXACT [NCIT:C27146]
synonym: "hereditary Factor VIII deficiency disease" EXACT [NCIT:C27146]
synonym: "Subhemophilia" EXACT [DOID:12134]
xref: DOID:0111823 {source="MONDO:mondoIsBroaderThanSource"}
xref: DOID:12134 {source="MONDO:equivalentTo", source="EFO:0007267"}
xref: GARD:6591 {source="MONDO:GARD"}
xref: ICD10CM:D66 {source="Orphanet:98878", source="Orphanet:98878/specific", source="DOID:12134", source="Orphanet:98878/e"}
xref: icd11.foundation:337607970 {source="MONDO:equivalentTo", source="Orphanet:98878", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:286.0 {source="DOID:12134"}
xref: MedDRA:10016080 {source="Orphanet:98878", source="Orphanet:98878/e"}
xref: MEDGEN:5501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006467 {source="MONDO:equivalentTo", source="Orphanet:98878", source="DOID:12134", source="Orphanet:98878/e", source="EFO:0007267"}
xref: NANDO:2200676 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27146 {source="MONDO:equivalentTo", source="DOID:12134"}
xref: NORD:1221 {source="MONDO:NORD"}
xref: OMIM:134500 {source="MONDO:equivalentTo", source="DOID:12134"}
xref: OMIM:306700 {source="MONDO:equivalentTo", source="Orphanet:98878", source="MONDO:preferredExternal", source="Orphanet:98878/e"}
xref: Orphanet:98878 {source="OMIM:306700", source="MONDO:equivalentTo"}
xref: SCTID:234440005 {source="MONDO:equivalentTo"}
xref: SCTID:28293008 {source="DOID:12134"}
xref: UMLS:C0019069 {source="MONDO:equivalentTo", source="MEDGEN:5501", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="DOID:12134"} ! X-linked disease
is_a: MONDO:0002243 {source="MESH:D006467"} ! hemorrhagic disease
is_a: MONDO:0018660 {source="EFO:0007267", source="NCIT:C27146", source="Orphanet:98878"} ! hemophilia
is_a: MONDO:0021181 {source="MESH:D006467", source="MONDO:Redundant"} ! inherited blood coagulation disorder
relationship: disease_arises_from_feature HP:0003125 ! Reduced factor VIII activity
relationship: disease_disrupts GO:0003810 ! protein-glutamine gamma-glutamyltransferase activity
relationship: disease_has_feature HP:0003125 ! Reduced factor VIII activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3546 {source="MONDO:mim2gene_medgen"} ! F8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010603
name: hemophilia A with vascular abnormality
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hemophilia A with vascular abnormality" EXACT [OMIM:306800]
xref: MEDGEN:336105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564415 {source="MONDO:equivalentTo"}
xref: OMIM:306800 {source="MONDO:equivalentTo"}
xref: UMLS:C1844137 {source="MEDGEN:336105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010602 {source="MESH:C564415", source="https://orcid.org/0000-0002-6601-2165"} ! hemophilia A
relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:306800"} ! X-linked inheritance

[Term]
id: MONDO:0010604
name: hemophilia B
def: "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." [Orphanet:98879]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1222"}
subset: ordo_disorder {source="Orphanet:98879"}
subset: orphanet_rare {source="Orphanet:98879"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Christmas disease" EXACT [OMIM:306900, Orphanet:98879]
synonym: "congenital factor IX deficiency" EXACT [DOID:12259]
synonym: "congenital factor IX disorder" EXACT [DOID:12259, ICD9CM:286.1]
synonym: "deficiency, functional factor IX" EXACT [DOID:12259]
synonym: "F9 deficiency" RELATED [OMIM:306900]
synonym: "factor 9 deficiency" RELATED [OMIM:306900]
synonym: "factor IX deficiency" EXACT [DOID:12259, Orphanet:98879]
synonym: "haemophilia B Leyden" RELATED OMO:0003005 []
synonym: "haemophilia B(M)" RELATED OMO:0003005 []
synonym: "haemophilia b, X-linked recessive" EXACT OMO:0003005 []
synonym: "haemophilia type B" EXACT OMO:0003005 []
synonym: "hem B" RELATED [GARD:0008732]
synonym: "HEMB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306900]
synonym: "hemophilia B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:306900]
synonym: "hemophilia B Leyden" RELATED [OMIM:306900]
synonym: "hemophilia B(M)" RELATED [OMIM:306900]
synonym: "hemophilia b, X-linked recessive" EXACT [OMIM:306900, OMIM:genemap2]
synonym: "hemophilia type B" EXACT [DOID:12259, MONDORULE:1, OMIM:306900, Orphanet:98879]
synonym: "hereditary Factor IX deficiency" EXACT [NCIT:C26721]
synonym: "hereditary Factor IX deficiency disease" EXACT [NCIT:C26721]
synonym: "plasma thromboplastin component deficiency" RELATED [OMIM:306900]
xref: DOID:12259 {source="MONDO:equivalentTo"}
xref: GARD:8732 {source="MONDO:GARD"}
xref: ICD10CM:D67 {source="DOID:12259", source="Orphanet:98879", source="Orphanet:98879/specific", source="Orphanet:98879/e"}
xref: icd11.foundation:1901375668 {source="MONDO:equivalentTo", source="Orphanet:98879", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:286.1 {source="DOID:12259", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10016077 {source="Orphanet:98879", source="Orphanet:98879/e"}
xref: MEDGEN:945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002836 {source="DOID:12259", source="MONDO:equivalentTo", source="Orphanet:98879", source="Orphanet:98879/e"}
xref: NANDO:2200677 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26721 {source="DOID:12259", source="MONDO:equivalentTo"}
xref: NORD:1222 {source="MONDO:NORD"}
xref: OMIM:306900 {source="DOID:12259", source="MONDO:equivalentTo", source="Orphanet:98879", source="Orphanet:98879/e"}
xref: Orphanet:98879 {source="MONDO:equivalentTo", source="OMIM:306900"}
xref: SCTID:154817006 {source="DOID:12259"}
xref: SCTID:234443007 {source="DOID:12259"}
xref: SCTID:41788008 {source="DOID:12259", source="MONDO:equivalentTo"}
xref: UMLS:C0008533 {source="MEDGEN:945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002243 {source="MESH:D002836"} ! hemorrhagic disease
is_a: MONDO:0018660 {source="NCIT:C26721", source="Orphanet:98879"} ! hemophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3551 {source="MONDO:mim2gene_medgen"} ! F9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b" xsd:anyURI {source="GARD:0008732"}

[Term]
id: MONDO:0010605
name: hemopoietic proliferation
synonym: "hemopoietic proliferation" EXACT [OMIM:306930]
xref: MEDGEN:336101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:306930 {source="MONDO:equivalentTo"}
xref: UMLS:C1844026 {source="MEDGEN:336101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010606
name: hernia, anterior diaphragmatic
subset: gard_rare {source="GARD:15295", source="MONDO:GARD"}
subset: rare
synonym: "hernia, anterior diaphragmatic" EXACT [OMIM:306950]
xref: GARD:15295 {source="MONDO:GARD"}
xref: MEDGEN:334881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564413 {source="MONDO:equivalentTo"}
xref: OMIM:306950 {source="MONDO:equivalentTo"}
xref: Orphanet:2140 {source="OMIM:306950"}
xref: UMLS:C1844025 {source="MEDGEN:334881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005711 {source="Orphanet:2140/btnt"} ! congenital diaphragmatic hernia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0010607
name: heterotaxy, visceral, 1, X-linked
def: "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia." [https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1]
subset: gard_rare {source="GARD:8591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital heart defects, multiple types, 1, X-linked" RELATED [OMIM:306955]
synonym: "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive" EXACT [OMIM:306955, OMIM:genemap2]
synonym: "dextrocardia with Other Cardiac malformations" RELATED [OMIM:306955]
synonym: "heterotaxy, visceral, 1, X-linked" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:306955]
synonym: "heterotaxy, visceral, 1, X-linked, X-linked recessive" EXACT [OMIM:306955, OMIM:genemap2]
synonym: "heterotaxy, visceral, X-linked" RELATED [GARD:0008591]
synonym: "HTX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306955]
synonym: "laterality, X-linked" RELATED [OMIM:306955]
synonym: "situs inversus, Complex Cardiac defects, and splenic defects, X-linked" RELATED [OMIM:306955]
synonym: "visceral heterotaxy caused by mutation in ZIC3" EXACT [MONDO:design_pattern]
synonym: "X-linked visceral heterotaxy 1" RELATED [GARD:0008591]
synonym: "ZIC3 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:8591 {source="MONDO:GARD"}
xref: MEDGEN:336609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538116 {source="MONDO:equivalentTo"}
xref: OMIM:306955 {source="MONDO:equivalentTo"}
xref: Orphanet:450 {source="OMIM:306955"}
xref: UMLS:C1844020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336609"}
is_a: MONDO:0018677 {source="DC-OMIM:306955", source="MONDO:Redundant", source="OMIM:306955"} ! visceral heterotaxy
is_a: MONDO:0019512 {source="MONDO:Redundant", source="MONDO:indirect"} ! congenital heart malformation
intersection_of: MONDO:0018677 ! visceral heterotaxy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12874 ! ZIC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12874 {source="MONDO:mim2gene_medgen"} ! ZIC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1" xsd:anyURI {source="GARD:0008591"}

[Term]
id: MONDO:0010608
name: Hhhh syndrome
synonym: "hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome" RELATED [OMIM:306960]
synonym: "Hhhh syndrome" EXACT [OMIM:306960]
xref: MEDGEN:336099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564411 {source="MONDO:equivalentTo"}
xref: OMIM:306960 {source="MONDO:equivalentTo"}
xref: UMLS:C1844019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336099"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010609
name: obsolete Hirschsprung disease with type d brachydactyly
is_obsolete: true
replaced_by: MONDO:0016294

[Term]
id: MONDO:0010610
name: holoprosencephaly-hypokinesia-congenital contractures syndrome
def: "An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." [https://orcid.org/0000-0001-5208-3432, Orphanet:2570]
subset: gard_rare {source="GARD:3788", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2570"}
subset: ordo_malformation_syndrome {source="Orphanet:2570"}
subset: orphanet_rare {source="Orphanet:2570"}
subset: rare
synonym: "holoprosencephaly with fetal akinesia/hypokinesia sequence" RELATED [OMIM:306990]
synonym: "holoprosencephaly with foetal akinesia/hypokinesia sequence" RELATED OMO:0003005 []
synonym: "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome" EXACT [Orphanet:2570]
synonym: "Morse-Rawnsley-Sargent syndrome" EXACT [Orphanet:2570]
xref: GARD:3788 {source="MONDO:GARD"}
xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2570/ntbt", source="Orphanet:2570"}
xref: MEDGEN:336097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564409 {source="MONDO:equivalentTo"}
xref: OMIM:306990 {source="Orphanet:2570/e", source="MONDO:equivalentTo", source="Orphanet:2570"}
xref: Orphanet:2570 {source="MONDO:equivalentTo", source="OMIM:306990"}
xref: SCTID:716169009 {source="MONDO:equivalentTo"}
xref: UMLS:C1844016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336097"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system malformation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0010611
name: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
def: "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." [https://orcid.org/0000-0002-6601-2165, https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius, https://www.ncbi.nlm.nih.gov/books/NBK1484/, Orphanet:2182]
subset: gard_rare {source="GARD:434", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2182"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aqueductal stenosis, X-linked" RELATED [OMIM:307000]
synonym: "Bickers-Adams syndrome" EXACT [Orphanet:2182]
synonym: "HSAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:307000, Orphanet:2182]
synonym: "HSAS1" RELATED ABBREVIATION [OMIM:307000]
synonym: "HYCX" RELATED ABBREVIATION [GARD:0000434]
synonym: "hydrocephalus due to aqueductal stenosis, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2]
synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" RELATED [MONDO:Lexical, OMIM:307000]
synonym: "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2]
synonym: "hydrocephalus with hirschsprung disease, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2]
synonym: "hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT [Orphanet:2182]
synonym: "hydrocephalus, X-linked" RELATED [OMIM:307000]
synonym: "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction" RELATED [OMIM:307000]
synonym: "X-linked acqueductal stenosis" EXACT [Orphanet:2182]
synonym: "X-linked HSAS" EXACT [Orphanet:2182]
synonym: "X-linked hydrocephalus" EXACT [Orphanet:2182]
synonym: "X-linked hydrocephalus with stenosis of aqueduct of Sylvius" EXACT [Orphanet:2182]
synonym: "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT CLINGEN_LABEL []
synonym: "XLAS" RELATED ABBREVIATION [GARD:0000434]
xref: GARD:434 {source="MONDO:GARD"}
xref: ICD10CM:Q03.0 {source="Orphanet:2182/inclusion", source="Orphanet:2182", source="Orphanet:2182/ntbt"}
xref: icd11.foundation:1284135636 {source="MONDO:equivalentTo", source="Orphanet:2182", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:75552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536078 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:307000 {source="Orphanet:2182/e", source="MONDO:equivalentTo", source="Orphanet:2182"}
xref: Orphanet:2182 {source="MONDO:equivalentTo", source="OMIM:307000"}
xref: Orphanet:275543 {source="OMIM:307000"}
xref: SCTID:71779008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75552"}
is_a: MONDO:0001150 {source="DC-OMIM:307000"} ! hydrocephalus
is_a: MONDO:0016349 ! congenital hydrocephalus
is_a: MONDO:0017140 {source="Orphanet:2182", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome
relationship: disease_arises_from_feature HP:0002410 ! Aqueductal stenosis
relationship: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6470 {source="MONDO:mim2gene_medgen"} ! L1CAM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010612
name: hydrocephaly-cerebellar agenesis syndrome
def: "This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." [Orphanet:1397]
subset: gard_rare {source="GARD:1200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1397"}
subset: ordo_malformation_syndrome {source="Orphanet:1397"}
subset: orphanet_rare {source="Orphanet:1397"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellum agenesis hydrocephaly" RELATED [GARD:0001200]
synonym: "hydrocephalus with cerebellar agenesis" RELATED [GARD:0001200, OMIM:307010]
synonym: "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome" EXACT [Orphanet:1397]
xref: GARD:1200 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:1397/attributed", source="Orphanet:1397/ntbt", source="Orphanet:1397"}
xref: MEDGEN:375335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564407 {source="MONDO:equivalentTo"}
xref: OMIM:307010 {source="GARD:0001200", source="Orphanet:1397", source="MONDO:equivalentTo", source="Orphanet:1397/e"}
xref: Orphanet:1397 {source="GARD:0001200", source="MONDO:equivalentTo", source="OMIM:307010"}
xref: UMLS:C1844005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375335"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1397", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1200/cerebellum-agenesis-hydrocephaly" xsd:anyURI {source="GARD:0001200"}

[Term]
id: MONDO:0010613
name: inborn glycerol kinase deficiency
def: "An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity." [MONDO:patterns/inborn_metabolic]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:21311", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:308993"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GK deficiency" RELATED [OMIM:307030]
synonym: "GK1 deficiency" RELATED [OMIM:307030]
synonym: "GKD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307030]
synonym: "glycerol kinase deficiency" EXACT [MONDO:0017702, MONDO:Lexical, OMIM:307030]
synonym: "glycerol kinase deficiency, X-linked recessive" EXACT [OMIM:307030, OMIM:genemap2]
synonym: "hyperglycerolemia" RELATED [OMIM:307030]
synonym: "inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glycerol kinase activity disorder" EXACT []
synonym: "rare inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0060363 {source="MONDO:equivalentTo"}
xref: GARD:21311 {source="MONDO:GARD"}
xref: MEDGEN:82803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200505 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:307030 {source="DOID:0060363", source="MONDO:equivalentTo"}
xref: Orphanet:308993 {source="MONDO:equivalentTo"}
xref: Orphanet:408 {source="DOID:0060363", source="OMIM:307030"}
xref: SCTID:124322002 {source="MONDO:equivalentTo"}
xref: SCTID:297256008 {source="DOID:0060363"}
xref: UMLS:C0268418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82803"}
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0004370 ! glycerol kinase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4289 {source="MONDO:mim2gene_medgen"} ! GK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5373" xsd:string

[Term]
id: MONDO:0010614
name: X-linked congenital generalized hypertrichosis
def: "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." [Orphanet:79495]
subset: gard_rare {source="GARD:2863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79495"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cgh" RELATED [OMIM:307150]
synonym: "chromosome Xq27.1 Interchromosomal insertion syndrome" RELATED [OMIM:307150]
synonym: "chromosome Xq27.1 interchromosomal insertion syndrome" RELATED [GARD:0002863]
synonym: "congenital generalised hypertrichosis, Macias-Flores type" EXACT OMO:0003005 []
synonym: "congenital generalized hypertrichosis, Macias-Flores type" EXACT [Orphanet:79495]
synonym: "hCG" RELATED [OMIM:307150]
synonym: "HTC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307150]
synonym: "hypertrichosis congenital generalised X-linked" RELATED OMO:0003005 []
synonym: "hypertrichosis congenital generalized X-linked" RELATED [GARD:0002863]
synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 []
synonym: "hypertrichosis, congenital generalized" RELATED [MONDO:Lexical, OMIM:307150]
synonym: "hypertrichosis, congenital generalized, X-linked dominant" EXACT [OMIM:307150, OMIM:genemap2]
synonym: "Macias Flores-Garcia Cruz-Rivera syndrome" EXACT [Orphanet:79495]
synonym: "Macias-Flores Garcia-Cruz Rivera syndrome" RELATED [GARD:0002863]
xref: GARD:2863 {source="MONDO:GARD"}
xref: ICD10CM:Q84.2 {source="Orphanet:79495/attributed", source="Orphanet:79495/ntbt", source="Orphanet:79495"}
xref: MEDGEN:341002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538388 {source="Orphanet:79495/e", source="MONDO:equivalentTo", source="Orphanet:79495"}
xref: OMIM:307150 {source="Orphanet:79495/e", source="MONDO:equivalentTo", source="Orphanet:79495"}
xref: Orphanet:2222 {source="OMIM:307150"}
xref: Orphanet:79495 {source="MONDO:equivalentTo", source="OMIM:307150"}
xref: UMLS:C1855900 {source="MEDGEN:341002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016381 {source="Orphanet:79495"} ! hypertrichosis lanuginosa congenita
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis" xsd:anyURI {source="GARD:0002863"}

[Term]
id: MONDO:0010615
name: isolated growth hormone deficiency type III
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3921", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231692"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200]
synonym: "congenital IGHD type III" EXACT [DOID:0060875, Orphanet:231692]
synonym: "congenital isolated GH deficiency type III" EXACT [DOID:0060875, Orphanet:231692]
synonym: "congenital isolated growth hormone deficiency type III" EXACT [DOID:0060875, Orphanet:231692]
synonym: "Fleisher syndrome" EXACT [DOID:0060875, OMIM:307200]
synonym: "Growth hormone deficiency with hypogammaglobulinemia" RELATED [OMIM:307200]
synonym: "growth hormone deficiency with hypogammaglobulinemia" EXACT [DOID:0060875]
synonym: "hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200]
synonym: "IGHD 3" RELATED [OMIM:307200]
synonym: "IGHD III" EXACT [DOID:0060875]
synonym: "IGHD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307200]
synonym: "isolated growth hormone deficiency type 3" RELATED [GARD:0003921]
synonym: "isolated growth hormone deficiency type III" EXACT CLINGEN_LABEL []
synonym: "isolated growth hormone deficiency, type 3" RELATED [OMIM:307200]
synonym: "isolated growth hormone deficiency, type III" RELATED [MONDO:Lexical, OMIM:307200]
synonym: "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive" EXACT [OMIM:307200, OMIM:genemap2]
synonym: "X-linked agammaglobulinemia and isolated growth hormone deficiency" EXACT [DOID:0060875]
synonym: "X-linked hypogammaglobulinemia and isolated growth hormone deficiency" EXACT [DOID:0060875]
synonym: "X-linked IGHD" EXACT [DOID:0060875, Orphanet:231692]
synonym: "X-linked isolated growth hormone deficiency" EXACT [DOID:0060875, Orphanet:231692]
xref: DOID:0060875 {source="MONDO:equivalentTo"}
xref: GARD:3921 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:231692", source="Orphanet:231692/attributed", source="Orphanet:231692/ntbt", source="DOID:0060875"}
xref: MEDGEN:141630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537149 {source="MONDO:equivalentTo"}
xref: OMIM:307200 {source="Orphanet:231692", source="Orphanet:231692/btnt", source="DOID:0060875", source="MONDO:equivalentTo"}
xref: Orphanet:231692 {source="DOID:0060875", source="MONDO:equivalentTo", source="OMIM:307200"}
xref: Orphanet:631 {source="OMIM:307200"}
xref: Orphanet:632 {source="OMIM:307200"}
xref: SCTID:234533006 {source="MONDO:equivalentTo"}
xref: UMLS:C0472813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141630"}
is_a: MONDO:0000050 {source="DC-OMIM:307200", source="DOID:0060875", source="Orphanet:231692"} ! isolated congenital growth hormone deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1133 {source="MONDO:mim2gene_medgen"} ! BTK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3" xsd:anyURI {source="GARD:0003921"}

[Term]
id: MONDO:0010616
name: obsolete hypogonadism, male
is_obsolete: true
replaced_by: MONDO:0009421

[Term]
id: MONDO:0010617
name: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
def: "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." [Orphanet:2234]
subset: gard_rare {source="GARD:4899", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2234"}
subset: ordo_malformation_syndrome {source="Orphanet:2234"}
subset: orphanet_rare {source="Orphanet:2234"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypogonadism, MALE, with intellectual disability and skeletal anomalies" RELATED [OMIM:307500]
synonym: "hypogonadism, MALE, with mental retardation and skeletal anomalies" RELATED DEPRECATED [OMIM:307500]
synonym: "Sohval-Soffer syndrome" EXACT [Orphanet:2234]
xref: GARD:4899 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2234", source="Orphanet:2234/attributed", source="Orphanet:2234/ntbt"}
xref: MEDGEN:334557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564406 {source="MONDO:equivalentTo"}
xref: OMIM:307500 {source="Orphanet:2234", source="MONDO:equivalentTo", source="Orphanet:2234/e"}
xref: Orphanet:2234 {source="OMIM:307500", source="MONDO:equivalentTo"}
xref: SCTID:722459008 {source="MONDO:equivalentTo"}
xref: UMLS:C1843994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334557"}
is_a: MONDO:0015159 {source="Orphanet:2234"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2234", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015906", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010618
name: familial isolated hypoparathyroidism due to agenesis of parathyroid gland
def: "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)." [NCIT:C131079]
subset: gard_rare {source="GARD:16589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2239"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypoparathyroidism, X-linked" RELATED [MONDO:Lexical, OMIM:307700]
synonym: "HYPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307700]
synonym: "parathyroid glands, agenesis of" RELATED [OMIM:307700]
synonym: "X-linked hypoparathyroidism" EXACT [NCIT:C131079]
xref: DOID:0111388 {source="MONDO:equivalentTo"}
xref: GARD:16589 {source="MONDO:GARD"}
xref: ICD10CM:E20.8 {source="Orphanet:2239", source="Orphanet:2239/attributed", source="Orphanet:2239/ntbt"}
xref: MEDGEN:87437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563238 {source="MONDO:equivalentTo"}
xref: NCIT:C131079 {source="MONDO:equivalentTo"}
xref: OMIM:307700 {source="MONDO:equivalentTo", source="Orphanet:2239", source="Orphanet:2239/e"}
xref: Orphanet:2238 {source="OMIM:307700"}
xref: Orphanet:2239 {source="OMIM:307700", source="MONDO:equivalentTo"}
xref: UMLS:C0342344 {source="MEDGEN:87437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001220 {source="MESH:C563238", source="NCIT:C131079"} ! hypoparathyroidism
is_a: MONDO:0007796 ! hypoparathyroidism, familial isolated 1

[Term]
id: MONDO:0010619
name: X-linked dominant hypophosphatemic rickets
def: "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." [Orphanet:89936]
subset: gard_rare {source="GARD:12943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:89936"}
subset: orphanet_rare {source="Orphanet:89936"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "HPDR" RELATED ABBREVIATION [GARD:0012943]
synonym: "HYP" RELATED ABBREVIATION [OMIM:307800]
synonym: "hypophophatemia, X-linked" RELATED [GARD:0012943]
synonym: "hypophophatemic vitamin D-resistant rickets" RELATED [GARD:0012943]
synonym: "hypophosphatemia, vitamin D-resistant rickets" EXACT [DOID:0050445]
synonym: "hypophosphatemia, X-linked" RELATED [OMIM:307800]
synonym: "hypophosphatemic rickets X-linked dominant" EXACT [DOID:0050445]
synonym: "hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "hypophosphatemic rickets, X-linked dominant" RELATED [MONDO:Lexical, OMIM:307800]
synonym: "hypophosphatemic rickets, X-linked dominant, X-linked dominant" EXACT [OMIM:307800, OMIM:genemap2]
synonym: "hypophosphatemic vitamin D-resistant rickets" RELATED [OMIM:307800]
synonym: "rickets, vitamin D-resistant" EXACT [DOID:0050445]
synonym: "vitamin D-resistant rickets, X-linked" EXACT [DOID:0050445, OMIM:307800]
synonym: "X-linked dominant hypophosphatemic rickets" EXACT CLINGEN_LABEL []
synonym: "X-linked hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern]
synonym: "X-linked hypophosphatemia" BROAD [DOID:0050445]
synonym: "X-linked hypophosphatemic rickets" BROAD [Orphanet:89936]
synonym: "XLH" EXACT ABBREVIATION [Orphanet:89936]
synonym: "XLHR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307800]
xref: DOID:0050445 {source="MONDO:equivalentTo"}
xref: GARD:12943 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89936", source="Orphanet:89936/attributed", source="Orphanet:89936/ntbt"}
xref: ICD10CM:E83.31 {source="DOID:0050445"}
xref: MEDGEN:196551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053098 {source="MONDO:relatedTo", source="DOID:0050445"}
xref: NANDO:1200779 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123265 {source="MONDO:relatedTo"}
xref: NCIT:C85234 {source="DOID:0050445", source="MONDO:equivalentTo"}
xref: OMIM:307800 {source="DOID:0050445", source="MONDO:equivalentTo", source="Orphanet:89936", source="Orphanet:89936/e"}
xref: Orphanet:89936 {source="OMIM:307800", source="MONDO:equivalentTo"}
xref: SCTID:82236004 {source="MONDO:equivalentTo"}
xref: UMLS:C0733682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196551"}
is_a: MONDO:0000044 {source="DC-OMIM:307800", source="MONDO:Redundant", source="OMIM:307800", source="Orphanet:89936"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0003847 {source="MESH:D053098/inferred", source="MONDO:Redundant", source="NCIT:C123265", source="Orphanet:89936/inferred"} ! hereditary disease
is_a: MONDO:0005520 {source="DOID:0050445", source="MESH:D053098/inferred", source="MONDO:Redundant"} ! rickets
is_a: MONDO:0024300 {source="MESH:D053098", source="MONDO:0010619/inferred", source="MONDO:Redundant"} ! hypophosphatemic rickets
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets
intersection_of: has_characteristic HP:0001423 ! X-linked dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8918 {source="MONDO:mim2gene_medgen"} ! PHEX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2844" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010620
name: hypouricemia, familial renal, due to tubular hypersecretion
subset: gard_rare {source="GARD:15296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypouricemia, familial renal, due to tubular hypersecretion" EXACT [OMIM:307830]
xref: GARD:15296 {source="MONDO:GARD"}
xref: MEDGEN:334869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564405 {source="MONDO:equivalentTo"}
xref: OMIM:307830 {source="MONDO:equivalentTo"}
xref: Orphanet:94088 {source="OMIM:307830"}
xref: UMLS:C1843972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334869"}
is_a: MONDO:0009071 {source="Orphanet:94088/btnt"} ! hereditary renal hypouricemia

[Term]
id: MONDO:0010621
name: CHILD syndrome
def: "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." [Orphanet:139]
subset: gard_rare {source="GARD:6039", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1284", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139"}
subset: orphanet_rare {source="Orphanet:139"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "child nevus" EXACT [Orphanet:139]
synonym: "CHILD syndrome" EXACT CLINGEN_LABEL []
synonym: "child syndrome" EXACT [OMIM:308050]
synonym: "CHILD syndrome, X-linked dominant" EXACT [OMIM:308050, OMIM:genemap2]
synonym: "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" RELATED [OMIM:308050]
synonym: "congenital hemidysplasia with ichthyosiform nevus and limb defects" RELATED [GARD:0006039]
synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT [Orphanet:139]
synonym: "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" RELATED [OMIM:308050]
synonym: "Ichthyosis, CHILD Syndrome" EXACT [NORD:1284]
synonym: "ichthyosis, child syndrome" RELATED [GARD:0006039]
xref: DOID:0111822 {source="MONDO:equivalentTo"}
xref: GARD:6039 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:139", source="Orphanet:139/attributed", source="Orphanet:139/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562515 {source="MONDO:equivalentTo"}
xref: NANDO:1200629 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200998 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201358 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1284 {source="MONDO:NORD"}
xref: OMIM:308050 {source="Orphanet:139", source="MONDO:equivalentTo", source="Orphanet:139/e"}
xref: Orphanet:139 {source="MONDO:equivalentTo", source="OMIM:308050"}
xref: SCTID:17608003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265267 {source="MEDGEN:82697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="Orphanet:139"} ! melanocytic nevus
is_a: MONDO:0015161 {source="Orphanet:139"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0017269 {source="MONDO:Redundant", source="Orphanet:139"} ! X-linked ichthyosis syndrome
is_a: MONDO:0019240 {source="MONDO:Redundant", source="Orphanet:139"} ! sterol biosynthesis disorder
is_a: MONDO:0019701 {source="MONDO:Redundant", source="Orphanet:139", source="PMID:31633310"} ! chondrodysplasia punctata
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13398 {source="MONDO:mim2gene_medgen"} ! NSDHL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6039/child-syndrome" xsd:anyURI {source="GARD:0006039"}

[Term]
id: MONDO:0010622
name: recessive X-linked ichthyosis
def: "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." [Orphanet:461]
comment: There are both syndromic and non-syndromic forms of this disease (PMID:20643494).
subset: gard_rare {source="GARD:7904", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1293", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:461"}
subset: orphanet_rare {source="Orphanet:461"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis (disease), X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "ichthyosis , X-linked, X-linked recessive" EXACT [OMIM:308100, OMIM:genemap2]
synonym: "Ichthyosis, X Linked" EXACT [NORD:1293]
synonym: "ichthyosis, X-linked" RELATED [MONDO:Lexical, OMIM:308100]
synonym: "ichthyosis, X-linked, complicated" RELATED [OMIM:308100]
synonym: "placental steroid sulfatase deficiency" RELATED [OMIM:308100]
synonym: "recessive X-linked ichthyosis" EXACT CLINGEN_LABEL []
synonym: "RXLI" EXACT ABBREVIATION [Orphanet:461]
synonym: "SSDD" RELATED ABBREVIATION [GARD:0007904]
synonym: "steroid sulfatase deficiency" EXACT [DECIPHER:27, OMIM:308100, Orphanet:461]
synonym: "steroid sulfatase deficiency disease" RELATED [OMIM:308100]
synonym: "STS deficiency" RELATED [OMIM:308100]
synonym: "X linked ichthyosis" RELATED [GARD:0007904]
synonym: "X-linked ichthyosis" EXACT [Orphanet:461]
synonym: "X-linked ichthyosis with steryl-sulphatase deficiency" EXACT [DOID:1700]
synonym: "X-linked placental steryl-sulphatase deficiency" EXACT [DOID:1700]
synonym: "X-linked recessive ichthyosis" EXACT [DOID:1700]
synonym: "XLI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:308100, Orphanet:461]
xref: DECIPHER:27 {source="MONDO:equivalentTo"}
xref: DOID:1700 {source="MONDO:equivalentTo"}
xref: GARD:7904 {source="MONDO:GARD"}
xref: ICD10CM:Q80.1 {source="Orphanet:461/e", source="Orphanet:461/specific", source="DOID:1700", source="Orphanet:461"}
xref: icd11.foundation:1466487054 {source="MONDO:equivalentTo", source="Orphanet:461", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10048063 {source="Orphanet:461/e", source="Orphanet:461"}
xref: MEDGEN:86937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016114 {source="Orphanet:461/e", source="DOID:1700", source="Orphanet:461"}
xref: NANDO:1200625 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84779 {source="MONDO:equivalentTo", source="DOID:1700"}
xref: NORD:1293 {source="MONDO:NORD"}
xref: OMIM:308100 {source="Orphanet:461/e", source="MONDO:equivalentTo", source="DOID:1700", source="Orphanet:461"}
xref: Orphanet:281090 {source="MONDO:relatedTo", source="OMIM:308100"}
xref: Orphanet:461 {source="MONDO:equivalentTo", source="OMIM:308100"}
xref: SCTID:205552006 {source="DOID:1700"}
xref: SCTID:254160003 {source="DOID:1700"}
xref: SCTID:3944006 {source="MONDO:equivalentTo"}
xref: SCTID:402771003 {source="DOID:1700"}
xref: SCTID:72523005 {source="DOID:1700"}
xref: UMLS:C0079588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:86937"}
is_a: MONDO:0000425 {source="DOID:1700", source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0015947 {source="PMID:20643494"} ! inherited ichthyosis
relationship: disease_has_basis_in_disruption_of GO:0004773 ! steryl-sulfatase activity
relationship: disease_has_basis_in_disruption_of GO:0016125 ! sterol metabolic process
relationship: excluded_subClassOf MONDO:0015947 {source="Orphanet:461-generalized-by-cjm", source="Orphanet:461/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49", source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
relationship: excluded_subClassOf MONDO:0019269 {source="NCIT:C84779", source="Orphanet:461/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis
relationship: has_characteristic HP:0001419 {source="OMIM:308100"} ! X-linked recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11425 {source="MONDO:mim2gene_medgen"} ! STS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010623
name: ichthyosis and male hypogonadism
synonym: "ichthyosis and male hypogonadism" EXACT [OMIM:308200]
synonym: "Ichthyosis-male hypogonadism syndrome" EXACT [Orphanet:431]
synonym: "rud syndrome" RELATED [OMIM:308200]
synonym: "Ruds" RELATED [OMIM:308200]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:333456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537365 {source="MONDO:equivalentTo"}
xref: OMIM:308200 {source="MONDO:equivalentTo"}
xref: Orphanet:431 {source="MONDO:equivalentObsolete", source="OMIM:308200"}
xref: SCTID:2355008 {source="MONDO:equivalentTo"}
xref: UMLS:C1839989 {source="MEDGEN:333456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010624
name: obsolete IFAP/BRESHECK syndrome
comment: Split this term and added OMIM phenotypic series as a parent.
is_obsolete: true
replaced_by: MONDO:0100213

[Term]
id: MONDO:0010625
name: immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Gpl115 deficiency" RELATED [OMIM:308220]
synonym: "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein" EXACT [OMIM:308220]
xref: MEDGEN:326624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564120 {source="MONDO:equivalentTo"}
xref: OMIM:308220 {source="MONDO:equivalentTo"}
xref: UMLS:C1839982 {source="MONDO:equivalentTo", source="MEDGEN:326624", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DC-OMIM:308220", source="MESH:C564120"} ! inborn error of immunity
is_a: MONDO:0003847 {source="MESH:C564120/inferred"} ! hereditary disease

[Term]
id: MONDO:0010626
name: hyper-IgM syndrome type 1
def: "The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele." [Wikipedia:Hyper-IgM_syndrome_type_1]
comment: This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG. {source="Wikipedia:Hyper-IgM_syndrome_type_1"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:73", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1261", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101088"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD40 ligand deficiency" RELATED [NCIT:C61244]
synonym: "HIGM" RELATED ABBREVIATION [GARD:0000073]
synonym: "HIGM1" EXACT ABBREVIATION [GARD:0000073, MONDO:Lexical, OMIM:308230, Orphanet:101088]
synonym: "HIGMX-1" EXACT [DOID:0060022]
synonym: "hyper IgM immunodeficiency, X-linked" RELATED [GARD:0000073]
synonym: "hyper IgM syndrome" RELATED [GARD:0000073]
synonym: "hyper IgM syndrome 1" RELATED [GARD:0000073]
synonym: "Hyper IgM Syndromes" EXACT [NORD:1261]
synonym: "hyper-IgM immunodeficiency, X-linked" RELATED [OMIM:308230]
synonym: "hyper-IgM syndrome" RELATED [OMIM:308230]
synonym: "hyper-IgM syndrome 1" RELATED [OMIM:308230]
synonym: "hyper-IgM syndrome due to CD40 ligand deficiency" EXACT [Orphanet:101088]
synonym: "hyper-IgM syndrome due to CD40L deficiency" EXACT [Orphanet:101088]
synonym: "hyper-IgM syndrome type 1" EXACT CLINGEN_LABEL [Orphanet:101088]
synonym: "hyper-IgM syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "hyperimmunoglobulin M syndrome" EXACT [DOID:6620]
synonym: "IHIS" RELATED ABBREVIATION [GARD:0000073]
synonym: "immunodeficiency 3" RELATED [OMIM:308230]
synonym: "immunodeficiency with hyper IgM type 1" RELATED [GARD:0000073]
synonym: "immunodeficiency with hyper-IgM, type 1" RELATED [MONDO:Lexical, OMIM:308230]
synonym: "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive" EXACT [OMIM:308230, OMIM:genemap2]
synonym: "X-linked hyper IgM syndrome" RELATED [GARD:0000073]
synonym: "X-linked hyper-IgM syndrome" EXACT [DOID:0060022, GARD:0000073]
synonym: "XHIGM" EXACT ABBREVIATION [Orphanet:101088]
synonym: "XHIM" RELATED ABBREVIATION [GARD:0000073]
xref: DOID:0060022 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:6620 {source="MONDO:equivalentTo"}
xref: GARD:73 {source="MONDO:GARD"}
xref: ICD10CM:D80.5 {source="Orphanet:101088", source="Orphanet:101088/attributed", source="Orphanet:101088/ntbt"}
xref: MEDGEN:96019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C61244 {source="MONDO:equivalentTo"}
xref: NORD:1261 {source="MONDO:NORD"}
xref: OMIM:308230 {source="Orphanet:101088", source="MONDO:equivalentTo", source="Orphanet:101088/e", source="GARD:0000073"}
xref: Orphanet:101088 {source="MONDO:equivalentTo", source="OMIM:308230", source="GARD:0000073"}
xref: Orphanet:183663 {source="OMIM:308230"}
xref: SCTID:403835002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C0398689 {source="MEDGEN:96019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C61244"} ! immunodeficiency disease
intersection_of: MONDO:0003947 ! hyper-IgM syndrome
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11935 {source="MONDO:mim2gene_medgen"} ! CD40LG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1" xsd:anyURI {source="GARD:0000073"}

[Term]
id: MONDO:0010627
name: X-linked lymphoproliferative syndrome
def: "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." [Orphanet:2442]
comment: Editor note: two OMIMPS
subset: gard_rare {source="GARD:10915", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1865"}
subset: ordo_group_of_disorders {source="Orphanet:2442"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Duncan disease" EXACT [Orphanet:2442]
synonym: "lymphoproliferative syndrome X-linked 1" RELATED [GARD:0007906]
synonym: "lymphoproliferative syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "lymphoproliferative syndrome, X-linked, 1" RELATED [GARD:0007906, MONDO:Lexical, OMIM:308240]
synonym: "lymphoproliferative syndrome, X-linked, type 1" NARROW [MONDORULE:1, OMIM:308240]
synonym: "Purtilo syndrome" EXACT [Orphanet:2442]
synonym: "SH2D1A-related lymphoproliferative disease, X-linked" RELATED [GARD:0007906]
synonym: "X linked Lymphoproliferative Syndrome" EXACT [NORD:1865]
synonym: "X-linked lymphoproliferative disease" RELATED [Orphanet:2442]
synonym: "X-linked lymphoproliferative syndrome" EXACT [NCIT:C61246]
synonym: "X-linked lymphoproliferative syndrome 1" RELATED [DOID:0060705]
synonym: "X-linked lymphoproliferative syndrome type 1" NARROW [DOID:0060705, MONDORULE:1]
synonym: "XLP" RELATED ABBREVIATION [Orphanet:2442]
synonym: "XLP1" NARROW ABBREVIATION [DOID:0060705]
xref: DOID:0060705 {source="MONDO:equivalentTo"}
xref: GARD:10915 {source="MONDO:GARD"}
xref: ICD10CM:D82.3 {source="Orphanet:2442", source="Orphanet:2442/e", source="DOID:0060705", source="Orphanet:2442/specific"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068348 {source="Orphanet:2442", source="Orphanet:2442/e"}
xref: MEDGEN:107498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008232 {source="Orphanet:2442", source="Orphanet:2442/e"}
xref: NANDO:1200351 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200725 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61246 {source="MONDO:equivalentTo"}
xref: NORD:1865 {source="MONDO:NORD"}
xref: Orphanet:2442 {source="MONDO:equivalentTo", source="GARD:0007906", source="OMIM:308240"}
xref: SCTID:77121009 {source="MONDO:equivalentTo"}
xref: UMLS:C0549463 {source="MEDGEN:107498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0016537 {source="DC-OMIM:308240", source="DOID:0060705", source="MONDO:Redundant", source="Orphanet:2442"} ! lymphoproliferative syndrome
is_a: MONDO:0021094 {source="NCIT:C61246"} ! immunodeficiency disease
intersection_of: MONDO:0016537 ! lymphoproliferative syndrome
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: excluded_subClassOf MONDO:0015541 {source="Orphanet:2442", source="https://orcid.org/0000-0001-9310-0163"} ! hereditary hemophagocytic lymphohistiocytosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1" xsd:anyURI {source="GARD:0007906"}

[Term]
id: MONDO:0010628
name: immunoglobulin M, level of
synonym: "immunoglobulin M, level of" EXACT [OMIM:308250]
xref: MEDGEN:327005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308250 {source="MONDO:equivalentTo"}
xref: UMLS:C1839966 {source="MEDGEN:327005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010629
name: impacted teeth, multiple
synonym: "impacted teeth, multiple" EXACT [OMIM:308280]
xref: MEDGEN:327004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308280 {source="MONDO:equivalentTo"}
xref: UMLS:C1839965 {source="MEDGEN:327004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010630
name: imprinting gene related to retinoblastoma
synonym: "imprinting gene related to retinoblastoma" EXACT [OMIM:308290]
xref: MEDGEN:333451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308290 {source="MONDO:equivalentTo"}
xref: UMLS:C1839964 {source="MEDGEN:333451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010631
name: incontinentia pigmenti
def: "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." [Orphanet:464]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1300"}
subset: ordo_disorder {source="Orphanet:464"}
subset: ordo_malformation_syndrome {source="Orphanet:464"}
subset: orphanet_rare {source="Orphanet:464"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bloch-Siemens syndrome" EXACT [Orphanet:464]
synonym: "Bloch-Sulzberger syndrome" EXACT [OMIM:308300, Orphanet:464]
synonym: "incontinentia pigmenti" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:308300]
synonym: "Incontinentia pigmenti syndrome" EXACT [DOID:12305]
synonym: "Incontinentia pigmenti type 2 (formerly)" RELATED [GARD:0006778]
synonym: "Incontinentia pigmenti, familial Male-lethal type" RELATED [OMIM:308300]
synonym: "Incontinentia pigmenti, type II" RELATED [OMIM:308300]
synonym: "Incontinentia pigmenti, type II, formerly" RELATED [OMIM:308300]
synonym: "incontinentia pigmenti, X-linked dominant" EXACT [OMIM:308300, OMIM:genemap2]
synonym: "IP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308300]
synonym: "IP2 (formerly)" RELATED [GARD:0006778]
xref: DOID:12305 {source="EFO:1000672", source="MONDO:equivalentTo"}
xref: GARD:6778 {source="MONDO:GARD"}
xref: ICD10CM:Q82.3 {source="Orphanet:464/specific", source="DOID:12305", source="Orphanet:464/e", source="Orphanet:464"}
xref: icd11.foundation:1542530268 {source="MONDO:equivalentTo", source="Orphanet:464"}
xref: MEDGEN:7049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007184 {source="DOID:12305", source="Orphanet:464/e", source="MONDO:equivalentTo", source="Orphanet:464"}
xref: NANDO:2200974 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84787 {source="DOID:12305", source="MONDO:equivalentTo"}
xref: NORD:1300 {source="MONDO:NORD"}
xref: OMIM:308300 {source="DOID:12305", source="Orphanet:464/e", source="MONDO:equivalentTo", source="Orphanet:464"}
xref: Orphanet:464 {source="MONDO:equivalentTo", source="OMIM:308300"}
xref: SCTID:205567005 {source="DOID:12305"}
xref: SCTID:367520004 {source="DOID:12305", source="MONDO:equivalentTo"}
xref: SCTID:806001 {source="DOID:12305"}
xref: UMLS:C0021171 {source="MEDGEN:7049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Incongenita_pigmenti {source="EFO:1000672"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019287 {source="Orphanet:464"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020247 {source="Orphanet:464"} ! congenital vitreoretinal dysplasia
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:50", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020174 {source="Orphanet:464", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete precancerous lesion of palpebral epidermis
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="MONDO:mim2gene_medgen"} ! IKBKG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010632
name: developmental and epileptic encephalopathy, 1
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15298", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DEE1" EXACT ABBREVIATION [OMIM:308350]
synonym: "developmental and epileptic encephalopathy 1, X-linked recessive" EXACT [OMIM:308350, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in ARX" EXACT []
synonym: "early infantile epileptic encephalopathy caused by mutation in arx" EXACT [MONDO:design_pattern]
synonym: "EIEE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:308350]
synonym: "epileptic encephalopathy, early infantile, 1" EXACT [MONDO:Lexical, OMIM:308350]
synonym: "epileptic encephalopathy, early infantile, type 1" EXACT [MONDORULE:1, OMIM:308350]
synonym: "infantile epileptic-dyskinetic encephalopathy" RELATED [OMIM:308350]
synonym: "infantile spasm syndrome, X-linked 1" RELATED [OMIM:308350]
synonym: "Ohtahara syndrome, X-linked" RELATED [OMIM:308350]
synonym: "West syndrome, X-linked" RELATED [OMIM:308350]
synonym: "XMESID" RELATED ABBREVIATION [OMIM:308350]
xref: DOID:0080468 {source="MONDO:equivalentTo"}
xref: GARD:15298 {source="MONDO:GARD"}
xref: MEDGEN:483052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308350 {source="MONDO:equivalentTo"}
xref: UMLS:C3463992 {source="MEDGEN:483052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome
is_a: MONDO:0100062 {source="DC-OMIM:308350", source="MONDO:Redundant", source="OMIM:308350"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 ! ARX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010633
name: iris hypoplasia with glaucoma
subset: gard_rare {source="GARD:9171", source="MONDO:GARD"}
subset: rare
synonym: "IHG" RELATED ABBREVIATION [GARD:0009171, MESH:C535538, MONDO:Lexical, OMIM:308500]
synonym: "iris hypoplasia and glaucoma" RELATED [GARD:0009171]
synonym: "iris hypoplasia with glaucoma" EXACT [MESH:C535538, MONDO:Lexical, OMIM:308500]
xref: GARD:9171 {source="MONDO:GARD"}
xref: MEDGEN:326993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535538 {source="MONDO:equivalentTo"}
xref: OMIM:308500 {source="GARD:0009171", source="MONDO:equivalentTo"}
xref: UMLS:C1839928 {source="MEDGEN:326993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005041 {source="MESH:C535538", source="MONDO:Redundant"} ! glaucoma
is_a: MONDO:0005283 {source="MESH:C535538"} ! retinal disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma" xsd:anyURI {source="GARD:0009171"}

[Term]
id: MONDO:0010634
name: jaundice, familial obstructive, of infancy
synonym: "jaundice, familial obstructive, of infancy" EXACT [OMIM:308600]
xref: MEDGEN:326992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564118 {source="MONDO:equivalentTo"}
xref: OMIM:308600 {source="MONDO:equivalentTo"}
xref: UMLS:C1839927 {source="MEDGEN:326992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010635
name: hypogonadotropic hypogonadism 1 with or without anosmia
def: "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." [NCIT:C75480]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3071", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANOS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "anosmic hypogonadism" RELATED [OMIM:308700]
synonym: "dysplasia Olfactogenitalis of De Morsier" RELATED [OMIM:308700]
synonym: "dysplasia olfactogenitalis of de Morsier" EXACT [DOID:0090094]
synonym: "HH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308700]
synonym: "hypogonadotropic hypogonadism 1 with or without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:308700]
synonym: "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive" EXACT [OMIM:308700, OMIM:genemap2]
synonym: "hypogonadotropic hypogonadism and anosmia" RELATED [OMIM:308700]
synonym: "hypogonadotropic hypogonadism caused by mutation in ANOS1" EXACT [MONDO:design_pattern]
synonym: "KAL1" RELATED ABBREVIATION [GARD:0003071]
synonym: "Kallmann syndrome 1" RELATED [OMIM:308700]
synonym: "Kallmann syndrome, type 1, X-linked" RELATED [GARD:0003071]
synonym: "Kallmann syndrome, X-linked" RELATED [GARD:0003071]
synonym: "KMS" RELATED ABBREVIATION [OMIM:308700]
xref: DOID:0090094 {source="MONDO:equivalentTo"}
xref: GARD:3071 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090094"}
xref: MEDGEN:295872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75480 {source="MONDO:equivalentTo"}
xref: OMIM:308700 {source="MONDO:equivalentTo", source="GARD:0003071", source="DOID:0090094"}
xref: Orphanet:478 {source="GARD:0003071"}
xref: UMLS:C1563719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:295872"}
is_a: MONDO:0018555 {source="DOID:0090094", source="MONDO:0010635/inferred", source="MONDO:Redundant", source="NCIT:C75480/inferred", source="OMIM:308700"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="NCIT:C75480", source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6211 ! ANOS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6211 {source="MONDO:mim2gene_medgen"} ! ANOS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010636
name: Kallmann syndrome with spastic paraplegia
synonym: "Kallmann syndrome with spastic paraplegia" EXACT [OMIM:308750]
synonym: "spastic paraplegia-Kallmann syndrome" RELATED [OMIM:308750]
xref: MEDGEN:333437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536873 {source="MONDO:equivalentTo"}
xref: OMIM:308750 {source="MONDO:equivalentTo"}
xref: UMLS:C1839911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333437"}
is_a: MONDO:0003847 {source="MESH:C536873/inferred"} ! hereditary disease

[Term]
id: MONDO:0010637
name: keratosis follicularis spinulosa decalvans, X-linked
subset: gard_rare {source="GARD:15299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratosis follicularis spinulosa decalvans" RELATED [MESH:C536159]
synonym: "keratosis follicularis Spinulosa decalvans cum Ophiasi" RELATED [OMIM:308800]
synonym: "keratosis follicularis spinulosa decalvans cum ophiasi" RELATED [MESH:C536159]
synonym: "keratosis follicularis SPINULOSA decalvans, X-linked" RELATED [OMIM:308800]
synonym: "keratosis follicularis spinulosa decalvans, X-linked" EXACT [MONDO:Lexical, OMIM:308800]
synonym: "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive" EXACT [OMIM:308800, OMIM:genemap2]
synonym: "KFSDX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308800]
synonym: "Kfsdx" RELATED [MESH:C536159]
xref: DOID:0080754 {source="MONDO:equivalentTo"}
xref: GARD:15299 {source="MONDO:GARD"}
xref: MEDGEN:854384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536159 {source="MONDO:equivalentTo"}
xref: OMIM:308800 {source="MONDO:equivalentTo"}
xref: Orphanet:2340 {source="OMIM:308800"}
xref: UMLS:C3887525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854384"}
is_a: MONDO:0000136 {source="DC-OMIM:308800"} ! keratosis follicularis spinulosa decalvans
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010638
name: keratosis follicularis-dwarfism-cerebral atrophy syndrome
def: "A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." [Orphanet:2339]
subset: gard_rare {source="GARD:3099", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2339"}
subset: ordo_malformation_syndrome {source="Orphanet:2339"}
subset: orphanet_rare {source="Orphanet:2339"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dwarfism, cerebral atrophy and generalised keratosis follicularis" RELATED OMO:0003005 []
synonym: "dwarfism, cerebral atrophy and generalized keratosis follicularis" RELATED [GARD:0003099]
synonym: "keratosis follicularis dwarfism and cerebral atrophy" RELATED [GARD:0003099]
synonym: "keratosis follicularis, dwarfism, and cerebral atrophy" RELATED [OMIM:308830]
xref: GARD:3099 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2339", source="Orphanet:2339/attributed", source="Orphanet:2339/ntbt"}
xref: MEDGEN:374340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536158 {source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e"}
xref: OMIM:308830 {source="MONDO:equivalentTo", source="Orphanet:2339", source="Orphanet:2339/e", source="GARD:0003099"}
xref: Orphanet:2339 {source="OMIM:308830", source="MONDO:equivalentTo", source="GARD:0003099"}
xref: UMLS:C1839910 {source="MEDGEN:374340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2339", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy" xsd:anyURI {source="GARD:0003099"}

[Term]
id: MONDO:0010639
name: laryngeal abductor paralysis-intellectual disability syndrome
def: "Laryngeal abductor paralysis-intellectual disability syndrome is characterized by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." [Orphanet:2375]
comment: X linked version based on information from Joanna. {source="OMIM:308850"}
subset: gard_rare {source="GARD:16597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2375"}
subset: ordo_malformation_syndrome {source="Orphanet:2375"}
subset: orphanet_rare {source="Orphanet:2375"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "laryngeal abductor paralysis" RELATED [OMIM:308850]
synonym: "Plott syndrome" EXACT [OMIM:308850, Orphanet:2375]
synonym: "vocal cord dysfunction, familial" RELATED [OMIM:308850]
xref: GARD:16597 {source="MONDO:GARD"}
xref: ICD10CM:J38.0 {source="Orphanet:2375", source="Orphanet:2375/attributed", source="Orphanet:2375/ntbt"}
xref: MEDGEN:1378465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308850 {source="Orphanet:2375", source="MONDO:equivalentTo", source="Orphanet:2375/e"}
xref: Orphanet:2375 {source="MONDO:equivalentTo", source="OMIM:308850"}
xref: SCTID:724178000 {source="MONDO:equivalentTo"}
xref: UMLS:C4319572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378465"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005087 {source="https://orcid.org/0000-0001-5208-3432"} ! respiratory system disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2375", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare

[Term]
id: MONDO:0010640
name: Leber optic atrophy, susceptibility to
subset: predisposition
synonym: "Leber hereditary optic neuropathy, modifier of" RELATED [OMIM:308905]
synonym: "Leber hereditary optic neuropathy, modifier of, X-linked dominant" EXACT [OMIM:308905, OMIM:genemap2]
synonym: "Leber optic atrophy, susceptibility to" EXACT [OMIM:308905]
synonym: "Lhon, modifier of" RELATED [OMIM:308905]
synonym: "Loas" RELATED [OMIM:308905]
xref: MEDGEN:374333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308905 {source="MONDO:equivalentTo"}
xref: Orphanet:104 {source="OMIM:308905"}
xref: UMLS:C1839891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374333"}
is_a: MONDO:0020573 {source="OMIM:308905", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0010788 {source="Orphanet:104/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Leber hereditary optic neuropathy
relationship: predisposes_towards MONDO:0010788 {source="OMIM:308905"} ! Leber hereditary optic neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0010641
name: X-linked diffuse leiomyomatosis-Alport syndrome
def: "A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females." [Orphanet:1018]
subset: gard_rare {source="GARD:2432", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1018"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alport syndrome and diffuse leiomyomatosis" RELATED [OMIM:308940]
synonym: "Alport syndrome with diffuse leiomyomatosis" RELATED [GARD:0002432]
synonym: "ATS-DL" RELATED [GARD:0002432]
synonym: "chromosome Xq22.3 centromeric deletion syndrome" RELATED [OMIM:308940]
synonym: "diffuse leiomyomatosis in Alport syndrome" RELATED [GARD:0002432]
synonym: "DL-ATS" RELATED [MONDO:Lexical, OMIM:308940]
synonym: "leiomyomatosis, diffuse, with Alport syndrome" RELATED [MONDO:Lexical, OMIM:308940]
synonym: "leiomyomatosis, esophageal and vulval, with nephropathy" RELATED [OMIM:308940]
synonym: "Xq22.3 microdeletion syndrome" EXACT [Orphanet:1018]
xref: GARD:2432 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1018", source="Orphanet:1018/attributed", source="Orphanet:1018/ntbt"}
xref: MEDGEN:333429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537113 {source="MONDO:equivalentTo"}
xref: OMIM:308940 {source="MONDO:equivalentTo", source="Orphanet:1018", source="Orphanet:1018/e"}
xref: Orphanet:1018 {source="OMIM:308940", source="MONDO:equivalentTo"}
xref: UMLS:C1839884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333429"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
is_a: MONDO:0017007 {source="Orphanet:1018"} ! partial deletion of the long arm of chromosome X
relationship: disease_arises_from_structure CHR:9606-chrXq22.3 {source="https://orcid.org/0000-0002-4142-7153"} ! Xq22.3 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0010642
name: Lesch-Nyhan phenotype with normal HGPRT
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Lesch-Nyhan phenotype with normal HGPRT" EXACT [OMIM:308950]
xref: MEDGEN:374332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308950 {source="MONDO:equivalentTo"}
xref: Orphanet:510 {source="OMIM:308950"}
xref: UMLS:C1839883 {source="MEDGEN:374332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010298 ! Lesch-Nyhan syndrome

[Term]
id: MONDO:0010643
name: acute leukemia
def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute leukaemia (disease)" EXACT OMO:0003005 []
synonym: "acute leukemia" EXACT [MONDO:ambiguous, NCIT:C9300]
synonym: "acute leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "leukemia, acute, X-linked" RELATED [OMIM:308960]
synonym: "stem cell leukaemia" RELATED OMO:0003005 []
synonym: "stem cell leukaemia (disease)" RELATED OMO:0003005 []
synonym: "stem cell leukemia" RELATED [DOID:12603, NCIT:C9298]
synonym: "stem cell leukemia (disease)" RELATED [MONDO:patterns/location]
xref: DOID:12603 {source="MONDO:equivalentTo"}
xref: EFO:1000068 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0002488 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C95.0 {source="DOID:12603"}
xref: ICD10CM:C95.00 {source="DOID:12603"}
xref: ICD9:208.0 {source="DOID:12603"}
xref: ICD9:208.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9801/3 {source="NCIT:C9300"}
xref: MEDGEN:43225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564112 {source="MONDO:equivalentTo"}
xref: NCIT:C9298 {source="DOID:12603", source="MONDO:relatedTo"}
xref: NCIT:C9300 {source="DOID:12603", source="MONDO:equivalentTo", source="EFO:1000068"}
xref: SCTID:154599000 {source="DOID:12603"}
xref: SCTID:188763007 {source="DOID:12603"}
xref: SCTID:24072005 {source="DOID:12603"}
xref: SCTID:91855006 {source="DOID:12603", source="MONDO:equivalentTo"}
xref: UMLS:C0085669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43225"}
is_a: MONDO:0005059 {source="DOID:12603", source="EFO:1000068", source="MESH:C564112", source="MONDO:Entailed", source="NCIT:C9300"} ! leukemia
intersection_of: MONDO:0005059 ! leukemia
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0010644
name: proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations
subset: gard_rare {source="GARD:15301", source="MONDO:GARD"}
subset: rare
synonym: "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" EXACT [OMIM:308990]
synonym: "proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive" EXACT [OMIM:308990, OMIM:genemap2]
xref: DOID:0111815 {source="MONDO:equivalentTo"}
xref: GARD:15301 {source="MONDO:GARD"}
xref: MEDGEN:333426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C545036 {source="MONDO:equivalentTo"}
xref: OMIM:308990 {source="MONDO:equivalentTo"}
xref: Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:308990"}
xref: Orphanet:93622 {source="MONDO:relatedTo", source="OMIM:308990"}
xref: UMLS:C1839874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333426"}
is_a: MONDO:0003634 {source="https://orcid.org/0000-0002-6601-2165"} ! proteinuria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010645
name: oculocerebrorenal syndrome
def: "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." [Orphanet:534]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1379"}
subset: ordo_disorder {source="Orphanet:534"}
subset: ordo_malformation_syndrome {source="Orphanet:534"}
subset: orphanet_rare {source="Orphanet:534"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lowe disease" EXACT [Orphanet:534]
synonym: "Lowe oculo-cerebro-renal syndrome" EXACT [Orphanet:534]
synonym: "Lowe oculocerebrorenal syndrome" EXACT [DOID:1056, MONDO:Lexical, OMIM:309000]
synonym: "Lowe syndrome" EXACT [DOID:1056, NORD:1379, OMIM:309000, Orphanet:534]
synonym: "Lowe syndrome, X-linked recessive" EXACT [OMIM:309000, OMIM:genemap2]
synonym: "OCR" EXACT ABBREVIATION [Orphanet:534]
synonym: "OCRL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309000, Orphanet:534]
synonym: "Ocrl1" RELATED [OMIM:309000]
synonym: "oculo-cerebro-renal dystrophy" EXACT [Orphanet:534]
synonym: "oculo-cerebro-renal syndrome" EXACT [Orphanet:534]
synonym: "oculocerebrorenal dystrophy" EXACT [Orphanet:534]
synonym: "oculocerebrorenal syndrome" EXACT CLINGEN_LABEL []
synonym: "oculocerebrorenal syndrome of Lowe" EXACT [DOID:1056]
synonym: "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" EXACT [Orphanet:534]
synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" RELATED [OMIM:309000]
xref: DOID:1056 {source="MONDO:equivalentTo"}
xref: GARD:3295 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:534/ntbt", source="Orphanet:534", source="Orphanet:534/inclusion"}
xref: ICD10CM:E72.03 {source="DOID:1056"}
xref: icd11.foundation:1392767390 {source="Orphanet:534", source="MONDO:equivalentTo"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10051707 {source="Orphanet:534", source="Orphanet:534/e"}
xref: MEDGEN:18145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009800 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="Orphanet:534/e"}
xref: NANDO:2100028 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200188 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84940 {source="DOID:1056", source="MONDO:equivalentTo"}
xref: NORD:1379 {source="MONDO:NORD"}
xref: OMIM:309000 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="Orphanet:534/e"}
xref: Orphanet:534 {source="MONDO:equivalentTo", source="OMIM:309000"}
xref: SCTID:79385002 {source="DOID:1056", source="MONDO:equivalentTo"}
xref: UMLS:C0028860 {source="MEDGEN:18145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84940"} ! syndromic disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0015962 {source="Orphanet:534"} ! inherited renal tubular disease
is_a: MONDO:0019216 {source="Orphanet:534"} ! inborn disorder of amino acid transport
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8108 {source="MONDO:mim2gene_medgen"} ! OCRL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010646
name: macular dystrophy, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "macular dystrophy, X-linked" EXACT [OMIM:309100]
xref: MEDGEN:374323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564110 {source="MONDO:equivalentTo"}
xref: OMIM:309100 {source="MONDO:equivalentTo"}
xref: UMLS:C1839842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374323"}
is_a: MONDO:0020242 ! hereditary macular dystrophy
relationship: has_characteristic HP:0001417 ! X-linked inheritance

[Term]
id: MONDO:0010647
name: spermatogenic failure, X-linked, 2
def: "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15302", source="MONDO:GARD"}
subset: rare
synonym: "azoospermia caused by mutation in TEX11" EXACT [MONDO:design_pattern]
synonym: "Male infertility from defect in meiosis" RELATED [OMIM:309120]
synonym: "spermatogenic failure, X-linked, 2" EXACT [MONDO:Lexical, OMIM:309120]
synonym: "spermatogenic failure, X-linked, 2, X-linked recessive" EXACT [OMIM:309120, OMIM:genemap2]
synonym: "spermatogenic failure, X-linked, type 2" EXACT [MONDORULE:1, OMIM:309120]
synonym: "SPGFX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309120]
synonym: "TEX11 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070185 {source="MONDO:equivalentTo"}
xref: GARD:15302 {source="MONDO:GARD"}
xref: MEDGEN:374322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:309120 {source="MONDO:equivalentTo"}
xref: Orphanet:217034 {source="OMIM:309120"}
xref: UMLS:C1839841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374322"}
is_a: MONDO:0004983 {source="DC-OMIM:309120", source="MONDO:Redundant", source="OMIM:309120"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11733 ! TEX11
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11733 ! TEX11
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11733 {source="MONDO:mim2gene_medgen"} ! TEX11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11733 {source="MONDO:mim2gene_medgen"} ! TEX11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010648
name: major affective disorder 2
synonym: "bipolar affective disorder" RELATED [OMIM:309200]
synonym: "MAFD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309200]
synonym: "MAJOR affective disorder 2" RELATED [OMIM:309200]
synonym: "major affective disorder 2" EXACT [OMIM:309200]
synonym: "major affective disorder 2, X-linked dominant" EXACT [OMIM:309200, OMIM:genemap2]
synonym: "manic-depressive illness" RELATED [OMIM:309200]
synonym: "manic-depressive psychosis, X-linked" RELATED [OMIM:309200]
xref: DOID:0080221 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:326975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564108 {source="MONDO:equivalentTo"}
xref: OMIM:309200 {source="DOID:0080221", source="MONDO:equivalentTo"}
xref: UMLS:C1839839 {source="MEDGEN:326975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000693 {source="DOID:0080221"} ! bipolar II disorder
is_a: MONDO:0003847 {source="MESH:C564108/inferred"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:309200", source="DOID:0080221/inferred", source="MESH:C564108", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010649
name: isolated congenital megalocornea
def: "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma." [Orphanet:91489]
subset: gard_rare {source="GARD:12648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91489"}
subset: ordo_morphological_anomaly {source="Orphanet:91489"}
subset: orphanet_rare {source="Orphanet:91489"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital anterior megalophthalmia" EXACT [Orphanet:91489]
synonym: "isolated congenital megalocornea" EXACT CLINGEN_LABEL []
synonym: "megalocornea" RELATED [MONDO:Lexical, OMIM:309300]
synonym: "megalocornea 1, X-linked, X-linked recessive" EXACT [OMIM:309300, OMIM:genemap2]
synonym: "MGC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309300]
synonym: "Mgcn" RELATED [OMIM:309300]
xref: GARD:12648 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:91489", source="Orphanet:91489/attributed", source="Orphanet:91489/ntbt"}
xref: MEDGEN:1385311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:309300 {source="MONDO:equivalentTo", source="Orphanet:91489", source="Orphanet:91489/e"}
xref: Orphanet:91489 {source="MONDO:equivalentTo", source="OMIM:309300"}
xref: SCTID:734026006 {source="MONDO:equivalentTo"}
xref: UMLS:C4518341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385311"}
is_a: MONDO:0009576 {source="DC-OMIM:309300"} ! megalocornea
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010650
name: Melnick-Needles syndrome
def: "A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems." [Orphanet:2484]
subset: gard_rare {source="GARD:7011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1430"}
subset: ordo_disorder {source="Orphanet:2484"}
subset: ordo_malformation_syndrome {source="Orphanet:2484"}
subset: orphanet_rare {source="Orphanet:2484"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Melnick Needles Syndrome" EXACT [NORD:1430]
synonym: "Melnick-Needles osteodysplasty" EXACT [OMIM:309350, Orphanet:2484]
synonym: "MELNICK-NEEDLES syndrome" RELATED [OMIM:309350]
synonym: "Melnick-Needles syndrome" EXACT [MONDO:Lexical, OMIM:309350]
synonym: "Melnick-Needles syndrome, X-linked dominant" EXACT [OMIM:309350, OMIM:genemap2]
synonym: "MNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309350]
synonym: "osteodysplasty of Melnick and Needles" RELATED [OMIM:309350]
xref: DOID:0111788 {source="MONDO:equivalentTo"}
xref: GARD:7011 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:2484", source="Orphanet:2484/attributed", source="Orphanet:2484/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10060908 {source="Orphanet:2484", source="Orphanet:2484/e"}
xref: MEDGEN:6292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1430 {source="MONDO:NORD"}
xref: OMIM:309350 {source="Orphanet:2484", source="MONDO:equivalentTo", source="Orphanet:2484/e"}
xref: Orphanet:2484 {source="MONDO:equivalentTo", source="OMIM:309350"}
xref: SCTID:13449007 {source="MONDO:equivalentTo"}
xref: UMLS:C0025237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6292"}
is_a: MONDO:0018233 {source="Orphanet:2484"} ! otopalatodigital syndrome spectrum disorder
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015161 {source="Orphanet:2484", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0019690 {source="PMID:31633310", source="https://orcid.org/0000-0001-5208-3432"} ! filamin-related bone disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2484", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome" xsd:anyURI {source="GARD:0007011"}

[Term]
id: MONDO:0010651
name: Menkes disease
def: "A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." [https://orcid.org/0000-0001-5208-3432, Orphanet:565]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1521", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1440"}
subset: ordo_disorder {source="Orphanet:565"}
subset: orphanet_rare {source="Orphanet:565"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "copper transport disease" BROAD [DOID:1838, OMIM:309400]
synonym: "kinky hair disease" EXACT [Orphanet:565]
synonym: "kinky hair syndrome" EXACT [Orphanet:565]
synonym: "MD" EXACT ABBREVIATION [Orphanet:565]
synonym: "Menkea syndrome" RELATED [GARD:0001521]
synonym: "Menkes disease" EXACT CLINGEN_LABEL [OMIM:309400]
synonym: "menkes disease, X-linked recessive" EXACT [OMIM:309400, OMIM:genemap2]
synonym: "Menkes kinky hair syndrome" EXACT [NCIT:C75486]
synonym: "Menkes kinky-hair syndrome" EXACT [DOID:1838]
synonym: "Menkes syndrome" EXACT [Orphanet:565]
synonym: "Mk" EXACT [OMIM:309400, Orphanet:565]
synonym: "MNK" EXACT ABBREVIATION [Orphanet:565]
synonym: "steely hair disease" EXACT [OMIM:309400, Orphanet:565]
synonym: "steely hair syndrome" EXACT [DOID:1838, Orphanet:565]
synonym: "Trichopoliodystrophy" EXACT [Orphanet:565]
synonym: "X-linked copper deficiency" EXACT [Orphanet:565]
xref: DOID:1838 {source="MONDO:equivalentTo"}
xref: GARD:1521 {source="MONDO:GARD"}
xref: ICD10CM:E83.0 {source="Orphanet:565", source="Orphanet:565/ntbt", source="Orphanet:565/inclusion"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10027294 {source="Orphanet:565", source="Orphanet:565/e"}
xref: MEDGEN:44030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007706 {source="MONDO:equivalentTo", source="DOID:1838"}
xref: NANDO:1200653 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200580 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75486 {source="MONDO:equivalentTo", source="DOID:1838"}
xref: NORD:1440 {source="MONDO:NORD"}
xref: OMIM:309400 {source="Orphanet:565", source="MONDO:equivalentTo", source="Orphanet:565/e", source="DOID:1838"}
xref: Orphanet:565 {source="MONDO:equivalentTo", source="OMIM:309400"}
xref: SCTID:59178007 {source="MONDO:equivalentTo", source="DOID:1838"}
xref: UMLS:C0022716 {source="MONDO:equivalentTo", source="MEDGEN:44030", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75486"} ! syndromic disease
is_a: MONDO:0004689 {source="DOID:1838", source="MESH:D007706"} ! inborn metal metabolism disorder
is_a: MONDO:0017762 {source="Orphanet:565"} ! disorder of copper metabolism
relationship: disease_has_feature HP:0000499 {source="Orphanet:565"} ! Abnormal eyelash morphology
relationship: disease_has_feature HP:0000534 {source="Orphanet:565"} ! Abnormal eyebrow morphology
relationship: excluded_subClassOf MONDO:0002917 {source="DOID:1838", source="MESH:D007706", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of pilosebaceous unit
relationship: excluded_subClassOf MONDO:0019282 {source="Orphanet:565", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hair shaft abnormality
relationship: excluded_subClassOf MONDO:0020189 {source="Orphanet:565", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes structural anomaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/869 {source="MONDO:mim2gene_medgen"} ! ATP7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1521/menkes-disease" xsd:anyURI {source="GARD:0001521"}

[Term]
id: MONDO:0010652
name: X-linked intellectual disability-seizures-psoriasis syndrome
def: "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." [Orphanet:3052]
subset: gard_rare {source="GARD:5238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3052"}
subset: orphanet_rare {source="Orphanet:3052"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability and psoriasis" RELATED [OMIM:309480]
synonym: "intellectual disability X-linked, Tranebjaerg type seizures and psoriasis" RELATED [GARD:0005238]
synonym: "mental retardation and psoriasis" RELATED DEPRECATED [OMIM:309480]
synonym: "mental retardation X-linked, Tranebjaerg type seizures and psoriasis" RELATED DEPRECATED [GARD:0005238]
synonym: "Tranebjaerg Svejgaard syndrome" RELATED [GARD:0005238]
synonym: "Tranebjaerg-Svejgaard syndrome" EXACT [Orphanet:3052]
synonym: "X-linked intellectual disability - seizures - psoriasis" RELATED [GARD:0005238]
synonym: "X-linked intellectual disability associated with psoriasis" RELATED [GARD:0005238]
synonym: "X-linked mental retardation associated with psoriasis" RELATED DEPRECATED [GARD:0005238]
xref: GARD:5238 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3052/attributed", source="Orphanet:3052/ntbt", source="Orphanet:3052"}
xref: MEDGEN:501947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536978 {source="MONDO:equivalentTo"}
xref: OMIM:309480 {source="Orphanet:3052/e", source="MONDO:equivalentTo", source="Orphanet:3052"}
xref: Orphanet:3052 {source="MONDO:equivalentTo", source="OMIM:309480"}
xref: SCTID:719810000 {source="MONDO:equivalentTo"}
xref: UMLS:C3501539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501947"}
is_a: MONDO:0020119 {source="Orphanet:3052", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010653
name: Renpenning syndrome
def: "An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature." [Orphanet:3242]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9509", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3242"}
subset: ordo_malformation_syndrome {source="Orphanet:3242"}
subset: orphanet_rare {source="Orphanet:3242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Golabi-Ito-Hall syndrome" EXACT [DOID:0060179, OMIM:309500]
synonym: "intellectual disability, X-linked 55" RELATED [OMIM:309500]
synonym: "intellectual disability, X-linked Renpenning type" RELATED [GARD:0009509]
synonym: "intellectual disability, X-linked, Renpenning type" RELATED [OMIM:309500]
synonym: "intellectual disability, X-linked, syndromic 3" RELATED [OMIM:309500]
synonym: "intellectual disability, X-linked, syndromic 8" RELATED [OMIM:309500]
synonym: "intellectual disability, X-linked, with spastic diplegia" RELATED [OMIM:309500]
synonym: "mental retardation, X-linked 55" RELATED DEPRECATED [OMIM:309500]
synonym: "mental retardation, X-linked Renpenning type" RELATED DEPRECATED [GARD:0009509]
synonym: "mental retardation, X-linked, Renpenning type" RELATED DEPRECATED [OMIM:309500]
synonym: "mental retardation, X-linked, syndromic 3" RELATED DEPRECATED [OMIM:309500]
synonym: "mental retardation, X-linked, syndromic 8" RELATED DEPRECATED [OMIM:309500]
synonym: "mental retardation, X-linked, with spastic diplegia" RELATED DEPRECATED [OMIM:309500]
synonym: "MRXS3" RELATED ABBREVIATION [GARD:0009509]
synonym: "MRXS8" RELATED ABBREVIATION [GARD:0009509]
synonym: "Renpenning syndrome" EXACT CLINGEN_LABEL []
synonym: "Renpenning syndrome 1" RELATED [MONDO:Lexical, OMIM:309500]
synonym: "Renpenning syndrome type 1" EXACT [MONDORULE:1, OMIM:309500]
synonym: "renpenning syndrome, X-linked recessive" EXACT [OMIM:309500, OMIM:genemap2]
synonym: "RENS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309500]
synonym: "Sutherland-Haan syndrome" RELATED [GARD:0009509]
synonym: "Sutherland-Haan X-linked intellectual disability syndrome" EXACT [DOID:0060179, OMIM:309500]
synonym: "Sutherland-Haan X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060179, OMIM:309500]
synonym: "syndromic X-linked intellectual disability 8" EXACT [DOID:0060179]
synonym: "syndromic X-linked mental retardation 8" EXACT DEPRECATED [DOID:0060179]
synonym: "X-linked intellectual disability due to PQBP1 mutations" EXACT [DOID:0060179, Orphanet:3242]
synonym: "X-linked intellectual disability Renpenning type" EXACT [DOID:0060179]
synonym: "X-linked intellectual disability syndromic 3" RELATED [GARD:0009509]
synonym: "X-linked intellectual disability with spastic diplegia" EXACT [DOID:0060179]
synonym: "X-linked intellectual disability, Renpenning type" EXACT [DOID:0060179, Orphanet:3242]
synonym: "X-linked mental retardation Renpenning type" EXACT DEPRECATED [DOID:0060179]
synonym: "X-linked mental retardation syndromic 3" RELATED DEPRECATED [GARD:0009509]
synonym: "X-linked mental retardation with spastic diplegia" EXACT DEPRECATED [DOID:0060179]
xref: DOID:0060179 {source="MONDO:equivalentTo"}
xref: GARD:9509 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="DOID:0060179", source="Orphanet:3242/attributed", source="Orphanet:3242/ntbt", source="Orphanet:3242"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:208670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537761 {source="MONDO:equivalentTo"}
xref: NCIT:C165533 {source="MONDO:equivalentTo"}
xref: OMIM:309500 {source="Orphanet:3242/e", source="DOID:0060179", source="MONDO:equivalentTo", source="Orphanet:3242"}
xref: Orphanet:3242 {source="OMIM:309500", source="DOID:0060179", source="MONDO:equivalentTo"}
xref: SCTID:699669001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208670"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: disease_has_feature HP:0000252 ! Microcephaly
relationship: disease_has_feature HP:0000275 ! Narrow face
relationship: disease_has_feature HP:0001249 ! Intellectual disability
relationship: disease_has_feature HP:0004322 ! Short stature
relationship: disease_has_feature HP:0008734 ! Decreased testicular size
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:3242", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:3242", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309500", source="DOID:0060179", source="OMIM:309500", source="Orphanet:3242", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9330 {source="MONDO:mim2gene_medgen"} ! PQBP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010654
name: Partington syndrome
def: "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." [GARD:0004235]
subset: gard_rare {source="GARD:4235", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:94083"}
subset: ordo_malformation_syndrome {source="Orphanet:94083"}
subset: orphanet_rare {source="Orphanet:94083"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, X-linked 36" RELATED [OMIM:309510]
synonym: "intellectual disability, X-linked, syndromic 1" RELATED [GARD:0004235, OMIM:309510]
synonym: "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures" RELATED [GARD:0004235, OMIM:309510]
synonym: "intellectual disability-dystonic movements-ataxia-seizures syndrome" RELATED [GARD:0004235]
synonym: "mental retardation, X-linked 36" RELATED DEPRECATED [OMIM:309510]
synonym: "mental retardation, X-linked, syndromic 1" RELATED DEPRECATED [OMIM:309510]
synonym: "mental retardation, X-linked, with dystonic movements, ataxia, and seizures" RELATED DEPRECATED [OMIM:309510]
synonym: "MRXS1" RELATED ABBREVIATION [GARD:0004235]
synonym: "Partington syndrome" EXACT [OMIM:309510]
synonym: "Partington syndrome, X-linked recessive" EXACT [OMIM:309510, OMIM:genemap2]
synonym: "Partington X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309510]
synonym: "Partington X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309510]
synonym: "Partington-Mulley syndrome" EXACT [Orphanet:94083]
synonym: "PRTS" RELATED DEPRECATED [MONDO:Lexical, OMIM:309510]
synonym: "X-linked intellectual disability-dystonia-dysarthria syndrome" EXACT [Orphanet:94083]
synonym: "X-linked Russell-Silver syndrome" EXACT [DOID:14744]
xref: DOID:14744 {source="MONDO:equivalentTo"}
xref: GARD:4235 {source="MONDO:GARD"}
xref: MEDGEN:163237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562446 {source="DOID:14744"}
xref: OMIM:309510 {source="Orphanet:94083/e", source="MONDO:equivalentTo", source="Orphanet:94083", source="DOID:14744"}
xref: Orphanet:94083 {source="MONDO:equivalentTo", source="DOID:14744", source="OMIM:309510"}
xref: UMLS:C0796250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163237"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:94083", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309510", source="DOID:14744", source="OMIM:309510", source="Orphanet:94083", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010655
name: X-linked intellectual disability with marfanoid habitus
def: "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." [Orphanet:776]
subset: gard_rare {source="GARD:3307", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:776"}
subset: ordo_malformation_syndrome {source="Orphanet:776"}
subset: orphanet_rare {source="Orphanet:776"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, X-linked, with Marfanoid habitus" RELATED [OMIM:309520]
synonym: "Lujan syndrome" EXACT [Orphanet:776]
synonym: "LUJAN-Fryns syndrome" RELATED [OMIM:309520]
synonym: "Lujan-Fryns syndrome" EXACT [Orphanet:776]
synonym: "Lujan-Fryns syndrome, X-linked recessive" EXACT [OMIM:309520, OMIM:genemap2]
synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies" RELATED [GARD:0003307]
synonym: "mental retardation, X-linked, with Marfanoid habitus" RELATED DEPRECATED [OMIM:309520]
xref: DOID:0080985 {source="MONDO:equivalentTo"}
xref: GARD:3307 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:776/attributed", source="Orphanet:776/ntbt", source="Orphanet:776"}
xref: MEDGEN:167096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537724 {source="MONDO:equivalentTo"}
xref: OMIM:309520 {source="Orphanet:776", source="MONDO:equivalentTo", source="Orphanet:776/e"}
xref: Orphanet:776 {source="MONDO:equivalentTo", source="OMIM:309520"}
xref: SCTID:422437002 {source="MONDO:equivalentTo"}
xref: UMLS:C0796022 {source="MEDGEN:167096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:776"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:776", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0100000 {source="MONDO:Redundant"} ! MED12-related intellectual disability syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11957 {source="MONDO:mim2gene_medgen"} ! MED12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010656
name: intellectual disability, X-linked 1
def: "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities." [NCIT:C133729]
subset: gard_rare {source="GARD:22699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397933"}
subset: orphanet_rare {source="Orphanet:397933"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 1, X-linked dominant" EXACT [OMIM:309530, OMIM:genemap2]
synonym: "intellectual disability, X-linked 1" EXACT CLINGEN_LABEL []
synonym: "IQSEC2" RELATED ABBREVIATION [GARD:0013221]
synonym: "IQSEC2-related disorder" EXACT [https://rarediseases.org/rare-diseases/iqsec2-related-disorder/]
synonym: "IQSEC2-related epilepsy" RELATED [GARD:0013221]
synonym: "IQSEC2-related intellectual disability" RELATED [GARD:0013221]
synonym: "IQSEC2-related syndromic intellectual disability" EXACT [Orphanet:397933]
synonym: "mental retardation, X-linked 1" EXACT DEPRECATED [MONDO:Lexical, OMIM:309530]
synonym: "mental retardation, X-linked 18" EXACT DEPRECATED [OMIM:309530]
synonym: "mental retardation, X-linked 78" EXACT DEPRECATED [MONDO:Lexical, OMIM:300551]
synonym: "mental retardation, X-linked type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:309530]
synonym: "MRX" EXACT ABBREVIATION [OMIM:309530]
synonym: "MRX1" EXACT DEPRECATED [MONDO:Lexical, OMIM:309530]
synonym: "MRX78" EXACT DEPRECATED [MONDO:0010357, MONDO:Lexical, OMIM:300551]
synonym: "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" RELATED [Orphanet:397933]
synonym: "X-linked intellectual disability 1" RELATED [GARD:0013221]
synonym: "X-linked intellectual disability 1/78" RELATED [GARD:0013221]
synonym: "X-linked intellectual disability 78" RELATED [GARD:0013221]
xref: DOID:0112038 {source="MONDO:equivalentTo"}
xref: GARD:22699 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:397933/attributed", source="Orphanet:397933/ntbt", source="Orphanet:397933"}
xref: MEDGEN:444070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564489 {source="MONDO:equivalentTo"}
xref: MESH:C567906 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C133729 {source="MONDO:equivalentTo"}
xref: OMIM:309530 {source="MONDO:equivalentTo"}
xref: Orphanet:397933 {source="MONDO:equivalentTo"}
xref: UMLS:C2931498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444070"}
is_a: MONDO:0019181 {source="DC-OMIM:300551", source="DC-OMIM:309530", source="OMIM:309530"} ! non-syndromic X-linked intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:397933", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29059 {source="MONDO:mim2gene_medgen"} ! IQSEC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7283" xsd:anyURI

[Term]
id: MONDO:0010657
name: methylmalonic acidemia with homocystinuria, type cblX
subset: gard_rare {source="GARD:13137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:369962"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [Orphanet:369962]
synonym: "intellectual disability, X-linked 3" RELATED [GARD:0013137, OMIM:309541]
synonym: "mental retardation, X-linked 3" RELATED DEPRECATED [OMIM:309541]
synonym: "methylmalonic acidemia and homocysteinemia type cblX" RELATED [GARD:0013137]
synonym: "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type" RELATED [OMIM:309541]
synonym: "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive" EXACT [OMIM:309541, OMIM:genemap2]
synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [Orphanet:369962]
xref: DOID:0111814 {source="MONDO:equivalentTo"}
xref: GARD:13137 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:369962", source="Orphanet:369962/attributed", source="Orphanet:369962/ntbt"}
xref: MEDGEN:167111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563136 {source="MONDO:equivalentTo"}
xref: OMIM:309541 {source="Orphanet:369962", source="MONDO:equivalentTo", source="Orphanet:369962/e"}
xref: Orphanet:369962 {source="MONDO:equivalentTo", source="OMIM:309541"}
xref: UMLS:C0796208 {source="MEDGEN:167111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016826 {source="Orphanet:369962"} ! methylmalonic aciduria and homocystinuria
is_a: MONDO:0019181 {source="DC-OMIM:309541", source="OMIM:309541"} ! non-syndromic X-linked intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4839 {source="MONDO:mim2gene_medgen"} ! HCFC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010658
name: syndromic X-linked intellectual disability 12
def: "X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome." [Orphanet:85290]
subset: gard_rare {source="GARD:16747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85290"}
subset: ordo_malformation_syndrome {source="Orphanet:85290"}
subset: orphanet_rare {source="Orphanet:85290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, X-linked, syndromic 12" EXACT [DOID:0060804, MONDO:Lexical, OMIM:309545]
synonym: "mental retardation, X-linked, syndromic 12" EXACT DEPRECATED [DOID:0060804, MONDO:Lexical, OMIM:309545]
synonym: "MRXS12" RELATED DEPRECATED [MONDO:Lexical, OMIM:309545]
synonym: "syndromic X-linked intellectual disability type 12" EXACT [DOID:0060804, MONDORULE:2]
synonym: "X-linked intellectual disability, Wilson type" EXACT [DOID:0060804]
xref: DOID:0060804 {source="MONDO:equivalentTo"}
xref: GARD:16747 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85290", source="DOID:0060804", source="Orphanet:85290/attributed", source="Orphanet:85290/ntbt"}
xref: MEDGEN:333405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564106 {source="MONDO:equivalentTo"}
xref: OMIM:309545 {source="MONDO:equivalentTo", source="Orphanet:85290", source="DOID:0060804", source="Orphanet:85290/e"}
xref: Orphanet:85290 {source="OMIM:309545", source="MONDO:equivalentTo", source="DOID:0060804"}
xref: SCTID:719009006 {source="MONDO:equivalentTo"}
xref: UMLS:C1839792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333405"}
is_a: MONDO:0020119 {source="DC-OMIM:309545", source="DOID:0060804", source="OMIM:309545", source="Orphanet:85290", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010659
name: FRAXE intellectual disability
def: "A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR." [Orphanet:100973]
subset: gard_rare {source="GARD:2378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100973"}
subset: orphanet_rare {source="Orphanet:100973"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fragile site, folic acid type" RELATED [GARD:0002378]
synonym: "fragile XE syndrome" RELATED [GARD:0002378]
synonym: "FRAXE intellectual disability" EXACT CLINGEN_LABEL []
synonym: "FRAXE intellectual disability syndrome" RELATED [OMIM:309548]
synonym: "FRAXE mental retardation syndrome" RELATED DEPRECATED [OMIM:309548]
synonym: "FRAXE syndrome" RELATED [GARD:0002378]
synonym: "intellectual developmental disorder, X-linked 109, X-linked recessive" EXACT [OMIM:309548, OMIM:genemap2]
synonym: "intellectual disability associated with fragile site FRAXE" EXACT [Orphanet:100973]
synonym: "intellectual disability, X-linked, associated with fragile site FRAXE" RELATED [OMIM:309548]
synonym: "mental retardation, X-linked, associated with fragile site FRAXE" RELATED DEPRECATED [OMIM:309548]
synonym: "X-linked intellectual disability associated with fragile site FRAXE" RELATED [GARD:0002378]
synonym: "X-linked mental retardation associated with fragile site FRAXE" RELATED DEPRECATED [GARD:0002378]
xref: DOID:0080984 {source="MONDO:equivalentTo"}
xref: GARD:2378 {source="MONDO:GARD"}
xref: MEDGEN:155512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:309548 {source="GARD:0002378", source="MONDO:equivalentTo", source="Orphanet:100973", source="Orphanet:100973/e"}
xref: Orphanet:100973 {source="GARD:0002378", source="OMIM:309548", source="MONDO:equivalentTo"}
xref: SCTID:716709002 {source="MONDO:equivalentTo"}
xref: UMLS:C0751157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155512"}
is_a: MONDO:0019181 {source="https://orcid.org/0000-0001-5208-3432"} ! non-syndromic X-linked intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309548", source="Orphanet:100973", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3776 {source="MONDO:mim2gene_medgen"} ! AFF2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome" xsd:anyURI {source="GARD:0002378"}

[Term]
id: MONDO:0010660
name: intellectual disability, X-linked 9
def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FTSJ1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, X-linked 9, X-linked recessive" EXACT [OMIM:309549, OMIM:genemap2]
synonym: "intellectual disability, X-linked 44" RELATED [OMIM:309549]
synonym: "intellectual disability, X-linked 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:309549]
synonym: "intellectual disability, X-linked type 9" EXACT [MONDORULE:1, OMIM:309549]
synonym: "mental retardation, X-linked 44" RELATED DEPRECATED [OMIM:309549]
synonym: "mental retardation, X-linked 9" RELATED DEPRECATED [MONDO:Lexical, OMIM:309549]
synonym: "mental retardation, X-linked type 9" EXACT DEPRECATED [MONDORULE:1, OMIM:309549]
synonym: "MRX9" RELATED DEPRECATED [MONDO:Lexical, OMIM:309549]
synonym: "non-syndromic X-linked intellectual disability caused by mutation in FTSJ1" EXACT [MONDO:design_pattern]
xref: DOID:0112034 {source="MONDO:equivalentTo"}
xref: GARD:22700 {source="MONDO:GARD"}
xref: MEDGEN:167112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563137 {source="MONDO:equivalentTo"}
xref: OMIM:309549 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:309549"}
xref: UMLS:C0796215 {source="MEDGEN:167112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="DC-OMIM:309549", source="MONDO:Redundant", source="OMIM:309549"} ! non-syndromic X-linked intellectual disability
intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13254 ! FTSJ1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13254 {source="MONDO:mim2gene_medgen"} ! FTSJ1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010661
name: severe X-linked intellectual disability, Gustavson type
def: "Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." [Orphanet:3078]
subset: gard_rare {source="GARD:5611", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3078"}
subset: ordo_malformation_syndrome {source="Orphanet:3078"}
subset: orphanet_rare {source="Orphanet:3078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gust" RELATED [GARD:0005611]
synonym: "Gustavson syndrome" RELATED [OMIM:309555]
synonym: "intellectual disability with optic atrophy, deafness, and seizures" RELATED [OMIM:309555]
synonym: "intellectual disability X-linked severe Gustavson type" RELATED [GARD:0005611]
synonym: "mental retardation with optic atrophy, deafness, and seizures" RELATED DEPRECATED [OMIM:309555]
synonym: "mental retardation X-linked severe Gustavson type" RELATED DEPRECATED [GARD:0005611]
synonym: "X-linked intellectual disability Gustavson type" RELATED [GARD:0005611]
synonym: "X-linked mental retardation Gustavson type" RELATED DEPRECATED [GARD:0005611]
xref: DOID:0081123 {source="MONDO:equivalentTo"}
xref: GARD:5611 {source="MONDO:GARD"}
xref: MEDGEN:167088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536759 {source="MONDO:equivalentTo"}
xref: OMIM:309555 {source="Orphanet:3078", source="MONDO:equivalentTo", source="Orphanet:3078/e"}
xref: Orphanet:3078 {source="OMIM:309555", source="MONDO:equivalentTo"}
xref: SCTID:722213009 {source="MONDO:equivalentTo"}
xref: UMLS:C0795965 {source="MEDGEN:167088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="Orphanet:3078", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010662
name: paraplegia-intellectual disability-hyperkeratosis syndrome
def: "A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." [Orphanet:2824]
subset: gard_rare {source="GARD:2344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2824"}
subset: ordo_malformation_syndrome {source="Orphanet:2824"}
subset: orphanet_rare {source="Orphanet:2824"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fitzsimmons-McLachlan-Gilbert syndrome" EXACT [Orphanet:2824]
synonym: "intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis" RELATED [OMIM:309560]
synonym: "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" RELATED DEPRECATED [OMIM:309560]
xref: GARD:2344 {source="MONDO:GARD"}
xref: MEDGEN:411554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537058 {source="MONDO:equivalentTo"}
xref: OMIM:309560 {source="Orphanet:2824/e", source="MONDO:equivalentTo", source="Orphanet:2824"}
xref: Orphanet:2824 {source="MONDO:equivalentTo", source="OMIM:309560"}
xref: UMLS:C2745996 {source="MEDGEN:411554", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:2824", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2824", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0010663
name: intellectual disability-hypotonic facies syndrome, X-linked, 1
def: "A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features." [https://orcid.org/0000-0001-5208-3432, Orphanet:73220]
subset: disease_grouping
subset: gard_rare {source="GARD:3521", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:93971", source="Orphanet:93973", source="Orphanet:93974"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carpenter-Waziri syndrome" EXACT [OMIM:309580]
synonym: "Chudley intellectual disability syndrome" RELATED [GARD:0001357]
synonym: "Chudley Lowry Hoar syndrome" EXACT [GARD:0001357]
synonym: "Chudley mental retardation syndrome" RELATED DEPRECATED [GARD:0001357]
synonym: "Chudley syndrome 1" RELATED [GARD:0001357]
synonym: "Chudley-Lowry syndrome" EXACT [OMIM:309580, Orphanet:93971]
synonym: "Chudley-Lowry-Hoar syndrome" EXACT [MONDO:0019775]
synonym: "Holmes-Gang syndrome" EXACT [OMIM:309580]
synonym: "intellectual disability Smith Fineman Myers type" RELATED [GARD:0003521]
synonym: "intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism" RELATED [OMIM:309580]
synonym: "intellectual disability-hypotonic facies syndrome X-linked, 1" RELATED [GARD:0001357]
synonym: "intellectual disability-hypotonic facies syndrome, X-linked, 1" EXACT [MONDO:Lexical, OMIM:309580]
synonym: "intellectual disability-hypotonic facies syndrome, X-linked, type 1" EXACT [MONDORULE:1, OMIM:309580]
synonym: "JMS" RELATED ABBREVIATION [GARD:0000081]
synonym: "Juberg Marsidi syndrome" NARROW [GARD:0000081]
synonym: "Juberg-Marsidi mental retardation syndrome" NARROW DEPRECATED [GARD:0000081]
synonym: "Juberg-Marsidi syndrome" NARROW [OMIM:309580]
synonym: "mental retardation Smith Fineman Myers type" RELATED DEPRECATED [GARD:0003521]
synonym: "mental retardation, X-linked, with growth retardation, deafness, and microgenitalism" RELATED DEPRECATED [OMIM:309580]
synonym: "mental retardation-hypotonic facies syndrome X-linked, 1" RELATED DEPRECATED [GARD:0001357]
synonym: "mental retardation-hypotonic facies syndrome, X-linked, 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:309580]
synonym: "mental retardation-hypotonic facies syndrome, X-linked, type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:309580]
synonym: "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive" EXACT DEPRECATED [OMIM:309580, OMIM:genemap2]
synonym: "mental retradation, X-linked with Growth delay, deafness, microgenitalism" RELATED DEPRECATED [GARD:0000081]
synonym: "MRXHF1" EXACT DEPRECATED [MONDO:Lexical, OMIM:309580]
synonym: "SFM1" RELATED ABBREVIATION [GARD:0001357]
synonym: "SFMS" EXACT ABBREVIATION [OMIM:309580]
synonym: "Smith Fineman Myers syndrome 1" RELATED [GARD:0001357, OMIM:309580]
synonym: "Smith-Fineman-Myers syndrome" EXACT [GARD:0003521]
synonym: "X-linked hypogonadism gynecomastia intellectual disability" RELATED [GARD:0000081]
synonym: "X-linked hypogonadism gynecomastia mental retardation" RELATED DEPRECATED [GARD:0000081]
synonym: "X-linked intellectual disability-hypotonic face syndrome" EXACT [Orphanet:73220]
synonym: "XLMR-hypotonic facies syndrome" EXACT [OMIM:309580]
xref: DOID:0080982 {source="MONDO:equivalentTo"}
xref: GARD:3521 {source="MONDO:GARD"}
xref: MEDGEN:1676827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537445 {source="MONDO:equivalentTo"}
xref: OMIM:309580 {source="Orphanet:73220", source="Orphanet:93971/ntbt", source="Orphanet:93971", source="MONDO:equivalentTo", source="Orphanet:93973", source="Orphanet:73220/e", source="Orphanet:93974", source="GARD:0000081", source="Orphanet:93974/ntbt", source="Orphanet:93973/ntbt"}
xref: Orphanet:73220 {source="MONDO:equivalentObsolete", source="MONDO:preferredExternal", source="OMIM:309580"}
xref: Orphanet:93970 {source="OMIM:309580"}
xref: Orphanet:93971 {source="MONDO:equivalentObsolete", source="OMIM:309580"}
xref: Orphanet:93972 {source="OMIM:309580", source="GARD:0000081"}
xref: Orphanet:93973 {source="MONDO:equivalentObsolete", source="OMIM:309580"}
xref: Orphanet:93974 {source="MONDO:equivalentObsolete", source="OMIM:309580"}
xref: Orphanet:93975 {source="OMIM:309580"}
xref: SCTID:717763008 {source="MONDO:equivalentTo"}
xref: SCTID:719212004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C4759781 {source="MEDGEN:1676827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5061" xsd:anyURI

[Term]
id: MONDO:0010664
name: syndromic X-linked intellectual disability Snyder type
def: "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." [Orphanet:3063]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1890"}
subset: ordo_disorder {source="Orphanet:3063"}
subset: orphanet_rare {source="Orphanet:3063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive" EXACT [OMIM:309583, OMIM:genemap2]
synonym: "intellectual disability, X-linked, Snyder-Robinson type" EXACT [DOID:0060802]
synonym: "intellectual disability, X-linked, syndromic, Snyder-Robinson type" RELATED [MONDO:Lexical, OMIM:309583]
synonym: "mental retardation, X-linked, Snyder-Robinson type" EXACT DEPRECATED [DOID:0060802]
synonym: "mental retardation, X-linked, syndromic, Snyder-Robinson type" RELATED DEPRECATED [MONDO:Lexical, OMIM:309583]
synonym: "MRXSSR" RELATED DEPRECATED [MONDO:Lexical, OMIM:309583]
synonym: "Snyder-Robinson intellectual disability syndrome" EXACT [DOID:0060802, OMIM:309583]
synonym: "Snyder-Robinson mental retardation syndrome" EXACT DEPRECATED [DOID:0060802, OMIM:309583]
synonym: "Snyder-Robinson Syndrome" EXACT [NORD:1890]
synonym: "Snyder-Robinson syndrome" EXACT [DOID:0060802, Orphanet:3063]
synonym: "spermine synthase deficiency" EXACT [DOID:0060802]
synonym: "SRS" EXACT ABBREVIATION [DOID:0060802]
synonym: "syndromic X-linked intellectual disability Snyder type" EXACT CLINGEN_LABEL []
synonym: "X-linked intellectual disability Snyder-Robinson type" RELATED [GARD:0005615]
synonym: "X-linked intellectual disability, Snyder type" RELATED [Orphanet:3063]
synonym: "X-linked mental retardation Snyder-Robinson type" RELATED DEPRECATED [GARD:0005615]
xref: DOID:0060802 {source="MONDO:equivalentTo"}
xref: GARD:5615 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3063/attributed", source="Orphanet:3063/ntbt", source="DOID:0060802", source="Orphanet:3063"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:162918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536678 {source="MONDO:equivalentTo"}
xref: NORD:1890 {source="MONDO:NORD"}
xref: OMIM:309583 {source="Orphanet:3063/e", source="MONDO:equivalentTo", source="DOID:0060802", source="Orphanet:3063"}
xref: Orphanet:3063 {source="MONDO:equivalentTo", source="DOID:0060802", source="OMIM:309583"}
xref: SCTID:702416008 {source="MONDO:equivalentTo"}
xref: UMLS:C0796160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162918"}
is_a: MONDO:0020119 {source="DC-OMIM:309583", source="DOID:0060802", source="OMIM:309583", source="Orphanet:3063", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11123 {source="MONDO:mim2gene_medgen"} ! SMS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010665
name: Wilson-Turner syndrome
def: "A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature." [Orphanet:3459]
subset: gard_rare {source="GARD:5579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3459"}
subset: ordo_malformation_syndrome {source="Orphanet:3459"}
subset: orphanet_rare {source="Orphanet:3459"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, X-linked, syndromic 6" EXACT [DOID:0060814]
synonym: "intellectual disability, X-linked, syndromic 6 (formerly)" RELATED [GARD:0005579]
synonym: "intellectual disability, X-linked, with gynecomastia and obesity" EXACT [DOID:0060814, OMIM:309585]
synonym: "intellectual disability, X-linked, with gynecomastia and obesity (formerly)" RELATED [GARD:0005579]
synonym: "mental retardation, X-linked, syndromic 6" EXACT DEPRECATED [DOID:0060814]
synonym: "mental retardation, X-linked, syndromic 6 (formerly)" RELATED DEPRECATED [GARD:0005579]
synonym: "mental retardation, X-linked, with gynecomastia and obesity" EXACT DEPRECATED [DOID:0060814, OMIM:309585]
synonym: "mental retardation, X-linked, with gynecomastia and obesity (formerly)" RELATED DEPRECATED [GARD:0005579]
synonym: "MRXS6" EXACT ABBREVIATION [DOID:0060814]
synonym: "Wilson Turner intellectual disability syndrome (formerly)" RELATED [GARD:0005579]
synonym: "Wilson Turner mental retardation syndrome (formerly)" RELATED DEPRECATED [GARD:0005579]
synonym: "Wilson-Turner syndrome, X-linked recessive" EXACT [OMIM:309585, OMIM:genemap2]
synonym: "Wilson-TURNER X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309585]
synonym: "Wilson-TURNER X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309585]
synonym: "WTS" EXACT ABBREVIATION [DOID:0060814, MONDO:Lexical, OMIM:309585, Orphanet:3459]
synonym: "X-linked intellectual disability - gynecomastia - obesity" RELATED [GARD:0005579]
synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [DOID:0060814, Orphanet:3459]
xref: DOID:0060814 {source="MONDO:equivalentTo"}
xref: GARD:5579 {source="MONDO:GARD"}
xref: MEDGEN:333393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536708 {source="MONDO:equivalentTo"}
xref: OMIM:309585 {source="MONDO:equivalentTo", source="Orphanet:3459", source="Orphanet:3459/e", source="DOID:0060814"}
xref: Orphanet:3459 {source="MONDO:equivalentTo", source="OMIM:309585", source="DOID:0060814"}
xref: SCTID:719834005 {source="MONDO:equivalentTo"}
xref: UMLS:C1839736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333393"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:3459", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309585", source="DOID:0060814", source="OMIM:309585", source="Orphanet:3459", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25726 {source="MONDO:mim2gene_medgen"} ! LAS1L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome" xsd:anyURI {source="GARD:0005579"}

[Term]
id: MONDO:0010666
name: obsolete Miles-Carpenter syndrome
comment: OMIM merged these
xref: OMIM:309605 {source="Orphanet:85283/e", source="DOID:0060815", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1696" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010758

[Term]
id: MONDO:0010667
name: Prieto syndrome
def: "This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth." [Orphanet:2958]
subset: gard_rare {source="GARD:4482", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2958"}
subset: ordo_malformation_syndrome {source="Orphanet:2958"}
subset: orphanet_rare {source="Orphanet:2958"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, X-linked, syndromic 2" RELATED [OMIM:309610]
synonym: "intellectual disability, X-linked, with Dysmorphism and cerebral atrophy" RELATED [OMIM:309610]
synonym: "mental retardation, X-linked, syndromic 2" RELATED DEPRECATED [OMIM:309610]
synonym: "mental retardation, X-linked, with Dysmorphism and cerebral atrophy" RELATED DEPRECATED [OMIM:309610]
synonym: "MRXS2" RELATED ABBREVIATION [GARD:0004482]
synonym: "Prieto syndrome, X-linked recessive" EXACT [OMIM:309610, OMIM:genemap2]
synonym: "Prieto X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309610]
synonym: "Prieto X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309610]
synonym: "Prieto-Badia-Mulas syndrome" EXACT [DOID:0060805, Orphanet:2958]
synonym: "PRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:309610]
synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [DOID:0060805]
xref: DOID:0060805 {source="MONDO:equivalentTo"}
xref: GARD:4482 {source="MONDO:GARD"}
xref: MEDGEN:374294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535274 {source="MONDO:equivalentTo"}
xref: OMIM:309610 {source="Orphanet:2958/e", source="MONDO:equivalentTo", source="Orphanet:2958", source="DOID:0060805"}
xref: Orphanet:2958 {source="OMIM:309610", source="MONDO:equivalentTo", source="DOID:0060805"}
xref: SCTID:719140001 {source="MONDO:equivalentTo"}
xref: UMLS:C1839730 {source="MEDGEN:374294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309610", source="DOID:0060805", source="OMIM:309610", source="Orphanet:2958", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010668
name: skeletal dysplasia-intellectual disability syndrome
def: "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." [Orphanet:1436]
subset: gard_rare {source="GARD:3520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1436"}
subset: ordo_malformation_syndrome {source="Orphanet:1436"}
subset: orphanet_rare {source="Orphanet:1436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Christian syndrome" EXACT [GARD:0003520, OMIM:309620, Orphanet:1436]
synonym: "intellectual disability skeletal dysplasia abducens palsy" RELATED [GARD:0003520]
synonym: "intellectual disability, skeletal dysplasia, and abducens palsy" RELATED [MONDO:Lexical, OMIM:309620]
synonym: "mental retardation skeletal dysplasia abducens palsy" RELATED DEPRECATED [GARD:0003520]
synonym: "mental retardation, skeletal dysplasia, and abducens palsy" RELATED DEPRECATED [MONDO:Lexical, OMIM:309620]
synonym: "mental retardation-skeletal dysplasia" EXACT [OMIM:309620, OMIM:genemap2]
synonym: "MRSD" RELATED DEPRECATED [MONDO:Lexical, OMIM:309620]
synonym: "X-linked skeletal dysplasia-intellectual disability syndrome" RELATED [Orphanet:1436]
xref: GARD:3520 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:1436", source="Orphanet:1436/attributed", source="Orphanet:1436/ntbt"}
xref: MEDGEN:326949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564101 {source="MONDO:equivalentTo"}
xref: OMIM:309620 {source="GARD:0003520", source="MONDO:equivalentTo", source="Orphanet:1436", source="Orphanet:1436/e"}
xref: Orphanet:1436 {source="GARD:0003520", source="MONDO:equivalentTo", source="OMIM:309620"}
xref: SCTID:722478008 {source="MONDO:equivalentTo"}
xref: UMLS:C1839729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326949"}
is_a: MONDO:0019694 {source="Orphanet:1436"} ! spondylodysplastic dysplasia
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1436", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy" xsd:anyURI {source="GARD:0003520"}

[Term]
id: MONDO:0010669
name: syndactyly type 8
def: "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." [Orphanet:2498]
subset: gard_rare {source="GARD:3559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2498"}
subset: ordo_morphological_anomaly {source="Orphanet:2498"}
subset: orphanet_rare {source="Orphanet:2498"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FGF16 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fusion of metacarpals 4 and 5" EXACT [Orphanet:2498]
synonym: "metacarpal 4-5 fusion" RELATED [MONDO:Lexical, OMIM:309630]
synonym: "metacarpal 4-5 fusion, X-linked recessive" EXACT [OMIM:309630, OMIM:genemap2]
synonym: "metacarpals 4 and 5 fusion" RELATED [GARD:0003559]
synonym: "MF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309630]
synonym: "non-syndromic syndactyly caused by mutation in FGF16" EXACT [MONDO:design_pattern]
xref: DOID:0111813 {source="MONDO:equivalentTo"}
xref: GARD:3559 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:2498", source="Orphanet:2498/attributed", source="Orphanet:2498/ntbt"}
xref: MEDGEN:333392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564100 {source="MONDO:equivalentTo"}
xref: OMIM:309630 {source="Orphanet:2498", source="GARD:0003559", source="MONDO:equivalentTo", source="Orphanet:2498/e"}
xref: Orphanet:2498 {source="GARD:0003559", source="MONDO:equivalentTo", source="OMIM:309630"}
xref: SCTID:715442006 {source="MONDO:equivalentTo"}
xref: UMLS:C1839728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333392"}
is_a: MONDO:0019530 {source="MONDO:Redundant", source="Orphanet:2498"} ! non-syndromic syndactyly
intersection_of: MONDO:0019530 ! non-syndromic syndactyly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3672 ! FGF16
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3672 {source="MONDO:mim2gene_medgen"} ! FGF16
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion" xsd:anyURI {source="GARD:0003559"}

[Term]
id: MONDO:0010670
name: X-linked intellectual disability-spastic quadriparesis syndrome
synonym: "intellectual disability with spastic paraplegia" RELATED [OMIM:309640]
synonym: "mental retardation with spastic paraplegia" RELATED DEPRECATED [OMIM:309640]
xref: MEDGEN:374293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564099 {source="MONDO:equivalentTo"}
xref: OMIM:309640 {source="MONDO:equivalentTo", source="Orphanet:163982", source="Orphanet:163982/e"}
xref: Orphanet:163982 {source="MONDO:equivalentObsolete", source="OMIM:309640"}
xref: UMLS:C1839727 {source="MEDGEN:374293", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="Orphanet:163982", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010671
name: microphthalmia, syndromic 1
subset: gard_rare {source="GARD:15304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85275"}
subset: ordo_malformation_syndrome {source="Orphanet:85275"}
subset: orphanet_rare {source="Orphanet:85275"}
subset: rare
synonym: "ANOP1, formerly" EXACT [OMIM:301590]
synonym: "Lenz dysplasia" EXACT [OMIM:309800]
synonym: "Lenz microphthalmia syndrome" EXACT [OMIM:309800]
synonym: "MAA, formerly" EXACT ABBREVIATION [OMIM:309800]
synonym: "MCOPS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309800]
synonym: "MCOPS4" EXACT ABBREVIATION [GARD:0005066, MONDO:Lexical, OMIM:301590, Orphanet:85275]
synonym: "MCOPS4, formerly" EXACT ABBREVIATION [OMIM:301590]
synonym: "microphthalmia syndromic 4" EXACT [GARD:0005066]
synonym: "microphthalmia with ankyloblepharon and intellectual disability" EXACT [GARD:0005066, OMIM:301590]
synonym: "microphthalmia with ankyloblepharon and mental retardation" EXACT DEPRECATED [GARD:0005066, OMIM:301590]
synonym: "microphthalmia, syndromic 1" EXACT [MONDO:Lexical, OMIM:309800]
synonym: "microphthalmia, syndromic 4, formerly" EXACT [MONDO:Lexical, OMIM:301590]
synonym: "microphthalmia, syndromic type 1" EXACT [MONDORULE:1, OMIM:309800]
synonym: "syndromic microphthalmia type 4" EXACT [GARD:0005066, Orphanet:85275]
xref: DOID:0111799 {source="MONDO:equivalentTo"}
xref: GARD:15304 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:85275/attributed", source="Orphanet:85275/ntbt", source="Orphanet:85275"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:162898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537464 {source="MONDO:equivalentTo"}
xref: MESH:C564457 {source="MONDO:equivalentObsolete"}
xref: OMIM:309800 {source="MONDO:equivalentTo"}
xref: Orphanet:568 {source="OMIM:309800"}
xref: Orphanet:85275 {source="MONDO:equivalentTo", source="GARD:0005066", source="OMIM:301590"}
xref: SCTID:438504004 {source="MONDO:equivalentTo"}
xref: SCTID:717222003 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0796016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162898"}
is_a: MONDO:0016073 {source="DC-OMIM:301590", source="MONDO:0010671/inferred", source="MONDO:Redundant", source="OMIM:301590", source="OMIM:309800", source="Orphanet:85275"} ! syndromic microphthalmia
is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10-related syndrome
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85275", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0018924 {source="Orphanet:568/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! microphthalmia, Lenz type
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85275", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18704 {source="OMIM:309800"} ! NAA10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3803" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4" xsd:anyURI {source="GARD:0005066"}

[Term]
id: MONDO:0010672
name: linear skin defects with multiple congenital anomalies
def: "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." [https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome]
comment: Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. {source="MONDO:DC"}
subset: gard_rare {source="GARD:3659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2556"}
subset: ordo_malformation_syndrome {source="Orphanet:2556"}
subset: orphanet_rare {source="Orphanet:2556"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "linear skin defects with multiple congenital anomalies" EXACT [OMIMPS:309801]
synonym: "linear skin defects with multiple congenital anomalies 1" RELATED [GARD:0003659, MONDO:Lexical, OMIM:309801]
synonym: "linear skin defects with multiple congenital anomalies type 1" EXACT [MONDORULE:1, OMIM:309801]
synonym: "LSDMCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309801]
synonym: "MCOPS7" EXACT ABBREVIATION [Orphanet:2556]
synonym: "microphthalmia dermal aplasia and sclerocornea syndrome" RELATED [GARD:0003659]
synonym: "microphthalmia with linear skin defects syndrome" EXACT [GARD:0003659]
synonym: "microphthalmia-dermal aplasia-sclerocornea syndrome" EXACT [Orphanet:2556]
synonym: "Micropthalmia syndromic 7" RELATED [GARD:0003659]
synonym: "MIDAS syndrome" EXACT [Orphanet:2556]
synonym: "MLS syndrome" EXACT [Orphanet:2556]
synonym: "syndromic microphthalmia type 7" EXACT [Orphanet:2556]
xref: DOID:0111875 {source="MONDO:equivalentTo"}
xref: GARD:3659 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:2556", source="Orphanet:2556/attributed", source="Orphanet:2556/ntbt"}
xref: MESH:C537466 {source="MONDO:equivalentTo"}
xref: OMIMPS:309801 {source="MONDO:equivalentTo"}
xref: Orphanet:2556 {source="OMIM:309801", source="MONDO:equivalentTo"}
xref: SCTID:721879006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0016073 {source="DC-OMIM:309801", source="Orphanet:2556"} ! syndromic microphthalmia
is_a: MONDO:0019294 {source="Orphanet:2556"} ! mixed dermis disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2556", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:309801"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome" xsd:anyURI {source="GARD:0003659"}

[Term]
id: MONDO:0010673
name: modifier, X-linked, for Neurofunctional defects
synonym: "modifier, X-linked, for Neurofunctional defects" EXACT [OMIM:309840]
synonym: "Tourette syndrome, modifier of" RELATED [OMIM:309840]
xref: MEDGEN:326945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564098 {source="MONDO:equivalentTo"}
xref: OMIM:309840 {source="MONDO:equivalentTo"}
xref: UMLS:C1839708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326945"}
is_a: MONDO:0003847 {source="MESH:C564098/inferred"} ! hereditary disease

[Term]
id: MONDO:0010674
name: mucopolysaccharidosis type 2
def: "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." [Orphanet:580]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1255"}
subset: ordo_disorder {source="Orphanet:580"}
subset: ordo_group_of_disorders {source="Orphanet:79388"}
subset: orphanet_rare {source="Orphanet:580"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "attenuated MPS (subtype; formerly known as mild MPS II)" EXACT [GARD:0006675]
synonym: "deficiency of iduronate-2-sulphatase" EXACT [DOID:12799]
synonym: "Hunter syndrome" EXACT [DOID:12799, Orphanet:580]
synonym: "Hunter's syndrome" EXACT [DOID:12799]
synonym: "I2S deficiency" EXACT [GARD:0006675]
synonym: "IDS deficiency" EXACT [OMIM:309900]
synonym: "iduronate 2-sulfatase deficiency" EXACT [OMIM:309900, Orphanet:580]
synonym: "MPS 2" EXACT [OMIM:309900]
synonym: "MPS II" EXACT [GARD:0006675]
synonym: "MPS II - Hunter syndrome" EXACT [DOID:12799]
synonym: "MPS with skin involvement" EXACT [Orphanet:79388]
synonym: "MPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309900, Orphanet:580]
synonym: "MPSII" EXACT ABBREVIATION [Orphanet:580]
synonym: "mucopolysaccharidosis II" EXACT [DOID:12799]
synonym: "mucopolysaccharidosis II, X-linked recessive" EXACT [OMIM:309900, OMIM:genemap2]
synonym: "mucopolysaccharidosis type 2" EXACT CLINGEN_LABEL []
synonym: "Mucopolysaccharidosis Type II" EXACT [NORD:1255]
synonym: "mucopolysaccharidosis type II" EXACT [DOID:12799, MONDORULE:3, Orphanet:580]
synonym: "mucopolysaccharidosis with skin involvement" EXACT [MONDO:0019302]
synonym: "mucopolysaccharidosis, MPS-II" EXACT [DOID:12799]
synonym: "mucopolysaccharidosis, type 2" EXACT [OMIM:309900]
synonym: "mucopolysaccharidosis, type II" EXACT [MONDO:Lexical, OMIM:309900]
synonym: "severe MPS II" EXACT [GARD:0006675]
synonym: "SIDS deficiency" EXACT [OMIM:309900]
synonym: "sulfoiduronate sulfatase deficiency" EXACT [OMIM:309900]
xref: DOID:12799 {source="MONDO:equivalentTo"}
xref: GARD:6675 {source="MONDO:GARD"}
xref: ICD10CM:E76.1 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580/specific", source="Orphanet:580", source="Orphanet:580/e"}
xref: icd11.foundation:1056274204 {source="MONDO:equivalentTo", source="Orphanet:580"}
xref: MedDRA:10056889 {source="Orphanet:580", source="Orphanet:580/e"}
xref: MEDGEN:7734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016532 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580", source="Orphanet:580/e"}
xref: NANDO:1200097 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200548 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61260 {source="DOID:12799", source="MONDO:equivalentTo"}
xref: NORD:1255 {source="MONDO:NORD"}
xref: OMIM:309900 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580", source="Orphanet:580/e"}
xref: Orphanet:580 {source="OMIM:309900", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:79388 {source="MONDO:equivalentTo"}
xref: SCTID:190936000 {source="DOID:12799"}
xref: SCTID:61413000 {source="DOID:12799"}
xref: SCTID:70737009 {source="DOID:12799", source="MONDO:equivalentTo"}
xref: UMLS:C0026705 {source="MONDO:equivalentTo", source="MEDGEN:7734", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61260"} ! syndromic disease
is_a: MONDO:0019249 {source="DOID:12799", source="MESH:D016532", source="MONDO:Redundant", source="NCIT:C61260", source="OMIM:309900", source="Orphanet:580"} ! mucopolysaccharidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
intersection_of: MONDO:0019249 ! mucopolysaccharidosis
intersection_of: disease_has_basis_in_disruption_of GO:0004423 ! iduronate-2-sulfatase activity
relationship: excluded_subClassOf MONDO:0015920 {source="Orphanet:580", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic neurometabolic disease with X-linked intellectual disability
relationship: excluded_subClassOf MONDO:0016326 {source="Orphanet:580", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lysosomal disease with hypertrophic cardiomyopathy
relationship: excluded_subClassOf MONDO:0019301 {source="Orphanet:79388", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metabolic disease with skin involvement
relationship: excluded_subClassOf MONDO:0019706 {source="Orphanet:580", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lysosomal storage disease with skeletal involvement
relationship: excluded_subClassOf MONDO:0020158 {source="MONDO:0020169-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyelids malposition disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5389 {source="MONDO:mim2gene_medgen"} ! IDS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3787" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010675
name: muscular dystrophy, cardiac type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "muscular dystrophy, cardiac type" EXACT [OMIM:309930]
xref: MEDGEN:254845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563247 {source="MONDO:equivalentTo"}
xref: OMIM:309930 {source="MONDO:equivalentTo"}
xref: UMLS:C1442927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:254845"}
is_a: MONDO:0020121 {source="DC-OMIM:309930", source="MESH:C563247"} ! muscular dystrophy

[Term]
id: MONDO:0010676
name: muscular dystrophy, Hemizygous lethal type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "muscular dystrophy, Hemizygous lethal type" EXACT [OMIM:309950]
xref: MEDGEN:326552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564097 {source="MONDO:equivalentTo"}
xref: OMIM:309950 {source="MONDO:equivalentTo"}
xref: UMLS:C1839671 {source="MEDGEN:326552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020121 {source="DC-OMIM:309950", source="MESH:C564097/inferred"} ! muscular dystrophy

[Term]
id: MONDO:0010677
name: muscular dystrophy, Mabry type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "muscular dystrophy, Mabry type" EXACT [OMIM:310000]
xref: MEDGEN:326551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564096 {source="MONDO:equivalentTo"}
xref: OMIM:310000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326551"}
is_a: MONDO:0020121 {source="DC-OMIM:310000", source="MESH:C564096"} ! muscular dystrophy

[Term]
id: MONDO:0010678
name: muscular dystrophy, progressive Pectorodorsal
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "muscular dystrophy, progressive Pectorodorsal" EXACT [OMIM:310095]
synonym: "muscular dystrophy, progressive, involving shoulder girdle and back" RELATED [OMIM:310095]
xref: MEDGEN:326550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564095 {source="MONDO:equivalentTo"}
xref: OMIM:310095 {source="MONDO:equivalentTo"}
xref: UMLS:C1839669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326550"}
is_a: MONDO:0020121 {source="DC-OMIM:310095", source="MESH:C564095"} ! muscular dystrophy

[Term]
id: MONDO:0010679
name: Duchenne muscular dystrophy
def: "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:98896]
subset: gard_rare {source="GARD:6291", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1065"}
subset: ordo_disorder {source="Orphanet:98896"}
subset: orphanet_rare {source="Orphanet:98896"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:310200, Orphanet:98896]
synonym: "Duchenne muscular dystrophy" EXACT CLINGEN_LABEL [OMIM:310200]
synonym: "Duchenne muscular dystrophy, X-linked recessive" EXACT [OMIM:310200, OMIM:genemap2]
synonym: "muscular dystrophy, Duchenne" EXACT [DOID:11723]
synonym: "muscular dystrophy, Duchenne type" RELATED [MONDO:Lexical, OMIM:310200]
synonym: "muscular dystrophy, pseudohypertrophic progressive, Duchenne type" RELATED [OMIM:310200]
synonym: "severe dystrophinopathy, Duchenne type" EXACT [Orphanet:98896]
xref: DOID:11723 {source="MONDO:equivalentTo"}
xref: GARD:6291 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:98896/ntbt", source="Orphanet:98896", source="Orphanet:98896/inclusion"}
xref: icd11.foundation:1479561744 {source="Orphanet:98896", source="MONDO:equivalentTo"}
xref: MedDRA:10013801 {source="Orphanet:98896", source="Orphanet:98896/e"}
xref: MEDGEN:3925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020388 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="Orphanet:98896/e"}
xref: NANDO:1200488 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200856 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75482 {source="DOID:11723", source="MONDO:equivalentTo"}
xref: NORD:1065 {source="MONDO:NORD"}
xref: OMIM:310200 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="Orphanet:98896/e"}
xref: Orphanet:98896 {source="MONDO:equivalentTo", source="OMIM:310200"}
xref: SCTID:129619006 {source="DOID:11723"}
xref: SCTID:155095006 {source="DOID:11723"}
xref: SCTID:267712004 {source="DOID:11723"}
xref: SCTID:387732009 {source="DOID:11723"}
xref: SCTID:76670001 {source="DOID:11723", source="MONDO:equivalentTo"}
xref: UMLS:C0013264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3925"}
is_a: MONDO:0020121 {source="DOID:11723", source="MESH:D020388", source="MONDO:Redundant", source="NCIT:C75482", source="Orphanet:98896/inferred"} ! muscular dystrophy
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 {source="MONDO:mim2gene_medgen"} ! DMD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy" xsd:anyURI {source="GARD:0006291"}

[Term]
id: MONDO:0010680
name: X-linked Emery-Dreifuss muscular dystrophy
def: "X-linked form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/x_linked]
subset: gard_rare {source="GARD:2102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98863"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98863"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Emerinopathy" EXACT [Orphanet:98863]
synonym: "Emery-Dreifuss muscular dystrophy, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "muscular dystrophy, tardive Emery-Dreifuss type, with contractures" RELATED [GARD:0002102]
synonym: "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" RELATED [DOID:0070246]
synonym: "X-linked Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL []
xref: GARD:2102 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:98863/attributed", source="Orphanet:98863/ntbt", source="Orphanet:98863"}
xref: MEDGEN:148284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000083143 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: OMIM:310300 {source="MONDO:relatedTo", source="Orphanet:98863", source="DOID:0070246", source="Orphanet:98863/e"}
xref: Orphanet:261 {source="OMIM:310300"}
xref: Orphanet:98863 {source="MONDO:equivalentTo", source="OMIM:310300"}
xref: UMLS:C0751337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148284"}
is_a: MONDO:0003847 {source="DOID:0070246"} ! hereditary disease
is_a: MONDO:0016830 {source="DOID:0070246", source="MONDO:Redundant", source="OMIM:310300", source="Orphanet:98863"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
intersection_of: MONDO:0016830 ! Emery-Dreifuss muscular dystrophy
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3331 {source="MONDO:mim2gene_medgen"} ! EMD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6738" xsd:anyURI

[Term]
id: MONDO:0010681
name: myelolymphatic insufficiency
synonym: "Myelolymphatic insufficiency" EXACT [OMIM:310350]
synonym: "Pelger-like anomaly with leukopenia and susceptibility to infections" RELATED [OMIM:310350]
xref: MEDGEN:333371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:310350 {source="MONDO:equivalentTo"}
xref: UMLS:C1839650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333371"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010682
name: obsolete myoclonic epilepsy, progressive, X-linked
subset: nord_rare {source="MONDO:NORD"}
synonym: "myoclonic epilepsy, progressive" EXACT [OMIM:310370]
xref: OMIM:310370 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:308 {source="OMIM:310370"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDiseas"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1928" xsd:anyURI
is_obsolete: true
consider: MONDO:0016022

[Term]
id: MONDO:0010683
name: X-linked myotubular myopathy
def: "A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure." [Orphanet:596]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:11925", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:596"}
subset: orphanet_rare {source="Orphanet:596"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "centronuclear myopathy, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "CNMX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310400]
synonym: "MTM" EXACT ABBREVIATION [NCIT:C118781]
synonym: "myopathy, centronuclear, X-linked" RELATED [MONDO:Lexical, OMIM:310400]
synonym: "myotubular myopathy 1" RELATED [OMIM:310400]
synonym: "myotubular myopathy, X-linked" RELATED [OMIM:310400]
synonym: "myotubular myopathy, X-linked, X-linked recessive" EXACT [OMIM:310400, OMIM:genemap2]
synonym: "X-linked centronuclear myopathy" EXACT CLINGEN_LABEL [Orphanet:596]
synonym: "X-linked myotubular myopathy" EXACT [https://orcid.org/0000-0002-7437-8060, Orphanet:596]
synonym: "XLCNM" EXACT ABBREVIATION [Orphanet:596]
synonym: "XLMTM" EXACT ABBREVIATION [Orphanet:596]
xref: DOID:0111225 {source="MONDO:equivalentTo"}
xref: GARD:11925 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:596/ntbt", source="Orphanet:596/inclusion", source="Orphanet:596"}
xref: MEDGEN:98374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538647 {source="Orphanet:596/e", source="Orphanet:596"}
xref: NCIT:C118781 {source="MONDO:equivalentTo"}
xref: OMIM:310400 {source="Orphanet:596/e", source="MONDO:equivalentTo", source="Orphanet:596"}
xref: Orphanet:596 {source="MONDO:equivalentTo", source="OMIM:310400"}
xref: SCTID:46804001 {source="MONDO:equivalentTo"}
xref: UMLS:C0410203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98374"}
is_a: MONDO:0018947 {source="DC-OMIM:310400", source="MONDO:Redundant", source="OMIM:310400", source="Orphanet:596"} ! centronuclear myopathy
intersection_of: MONDO:0018947 ! centronuclear myopathy
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: excluded_subClassOf MONDO:0002921 {source="NCIT:C118781", source="OMIM:310400", source="https://orcid.org/0000-0001-5208-3432"} ! congenital structural myopathy
relationship: excluded_subClassOf MONDO:0016154 {source="Orphanet:596", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete qualitative or quantitative defects of myotubularin
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:596", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7448 {source="MONDO:mim2gene_medgen"} ! MTM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6730" xsd:anyURI

[Term]
id: MONDO:0010684
name: X-linked myopathy with excessive autophagy
def: "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings." [Orphanet:25980]
subset: gard_rare {source="GARD:3892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1866"}
subset: ordo_disorder {source="Orphanet:25980"}
subset: orphanet_rare {source="Orphanet:25980"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEAX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310440]
synonym: "myopathy, X-linked, with excessive autophagy" RELATED [GARD:0003892, MONDO:Lexical, OMIM:310440]
synonym: "myopathy, X-linked, with excessive autophagy, X-linked recessive" EXACT [OMIM:310440, OMIM:genemap2]
synonym: "vacuolar myopathy" EXACT [Orphanet:25980]
synonym: "XMEA" EXACT ABBREVIATION [DOID:0050760, OMIM:310440, Orphanet:25980]
xref: DOID:0050760 {source="MONDO:equivalentTo"}
xref: GARD:3892 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:25980/attributed", source="Orphanet:25980/ntbt", source="Orphanet:25980"}
xref: MEDGEN:374264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536522 {source="MONDO:equivalentTo"}
xref: NANDO:1200223 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1866 {source="MONDO:NORD"}
xref: OMIM:310440 {source="Orphanet:25980/e", source="MONDO:equivalentTo", source="Orphanet:25980"}
xref: Orphanet:25980 {source="OMIM:310440", source="MONDO:equivalentTo"}
xref: SCTID:719815005 {source="MONDO:equivalentTo"}
xref: UMLS:C1839615 {source="MEDGEN:374264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016106 {source="Orphanet:25980"} ! progressive muscular dystrophy
is_a: MONDO:0016112 {source="Orphanet:25980"} ! hereditary inclusion-body myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22082 {source="MONDO:mim2gene_medgen"} ! VMA21
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy" xsd:anyURI {source="GARD:0003892"}

[Term]
id: MONDO:0010685
name: myopia 1, X-linked
synonym: "myopia 1, X-linked" EXACT [MONDO:Lexical, OMIM:310460]
synonym: "myopia-1, X-linked recessive" EXACT [OMIM:310460, OMIM:genemap2]
synonym: "MYP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:310460]
xref: MEDGEN:326540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564091 {source="MONDO:equivalentTo"}
xref: OMIM:310460 {source="MONDO:equivalentTo"}
xref: UMLS:C1839612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326540"}
is_a: MONDO:0001384 {source="DC-OMIM:310460", source="MESH:C564091", source="OMIM:310460"} ! myopia
is_a: MONDO:0003847 {source="MESH:C564091/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010686
name: N syndrome
def: "N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity." [Orphanet:2608]
subset: gard_rare {source="GARD:3902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2608"}
subset: ordo_malformation_syndrome {source="Orphanet:2608"}
subset: orphanet_rare {source="Orphanet:2608"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukaemia" RELATED OMO:0003005 []
synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia" RELATED [GARD:0003902]
synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukaemia" RELATED OMO:0003005 []
synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukemia" RELATED DEPRECATED [GARD:0003902]
synonym: "N syndrome" EXACT [MONDO:Lexical, OMIM:310465]
synonym: "NSX" EXACT ABBREVIATION [DOID:0050769, MONDO:Lexical, OMIM:310465]
xref: DOID:0050769 {source="MONDO:equivalentTo"}
xref: GARD:3902 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2608/attributed", source="Orphanet:2608/ntbt", source="Orphanet:2608"}
xref: MEDGEN:424834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536108 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="Orphanet:2608"}
xref: OMIM:310465 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="DOID:0050769", source="Orphanet:2608"}
xref: Orphanet:2608 {source="MONDO:equivalentTo", source="OMIM:310465", source="DOID:0050769"}
xref: SCTID:723410002 {source="MONDO:equivalentTo"}
xref: UMLS:C2936859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424834"}
is_a: MONDO:0015159 {source="Orphanet:2608"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015356 {source="Orphanet:2608"} ! hereditary neoplastic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9173 {source="MONDO:mim2gene_medgen"} ! POLA1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3902/n-syndrome" xsd:anyURI {source="GARD:0003902"}

[Term]
id: MONDO:0010687
name: nephrolithiasis, X-linked recessive, with renal failure
comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations
subset: gard_rare {source="GARD:15305", source="MONDO:GARD"}
subset: rare
synonym: "nephrolithiasis 1" RELATED [OMIM:310468]
synonym: "nephrolithiasis, type i, X-linked recessive" EXACT [OMIM:310468, OMIM:genemap2]
synonym: "nephrolithiasis, X-linked recessive, type 1" RELATED [OMIM:310468]
synonym: "nephrolithiasis, X-linked recessive, with renal failure" EXACT [MONDO:Lexical, OMIM:310468]
synonym: "urolithiasis, X-linked recessive, type 1" RELATED [OMIM:310468]
synonym: "XRN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310468]
xref: DOID:0111798 {source="MONDO:equivalentTo"}
xref: GARD:15305 {source="MONDO:GARD"}
xref: MEDGEN:96047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562901 {source="MONDO:equivalentTo"}
xref: OMIM:310468 {source="MONDO:equivalentTo"}
xref: Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:310468"}
xref: Orphanet:93622 {source="MONDO:relatedTo", source="OMIM:310468"}
xref: SCTID:236713006 {source="MONDO:equivalentTo"}
xref: UMLS:C0403720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96047"}
is_a: MONDO:0008171 {source="MESH:C562901", source="https://orcid.org/0000-0002-6601-2165"} ! nephrolithiasis
is_a: MONDO:0100191 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited kidney disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010688
name: hereditary sensory neuropathy X-linked
def: "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." [DOID:0070159]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neuropathy, hereditary sensory, X-linked" RELATED [OMIM:310470]
xref: DOID:0070159 {source="MONDO:equivalentTo"}
xref: MEDGEN:333359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564090 {source="MONDO:equivalentTo"}
xref: OMIM:310470 {source="DOID:0070159", source="MONDO:equivalentTo"}
xref: UMLS:C1839602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333359"}
is_a: MONDO:0015364 {source="DC-OMIM:310470", source="DOID:0070159", source="MESH:C564090"} ! hereditary sensory and autonomic neuropathy

[Term]
id: MONDO:0010689
name: Charcot-Marie-Tooth disease X-linked recessive 4
def: "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." [Orphanet:101078]
subset: gard_rare {source="GARD:1240", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101078"}
subset: orphanet_rare {source="Orphanet:101078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "axonal motor sensory neuropathy with deafness and intellectual disability" EXACT [DOID:0110212]
synonym: "axonal motor sensory neuropathy with deafness and mental retardation" EXACT DEPRECATED [DOID:0110212]
synonym: "Charcot-Marie-Tooth disease with deafness and intellectual disability" EXACT [DOID:0110212, OMIM:310490]
synonym: "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT DEPRECATED [DOID:0110212, OMIM:310490]
synonym: "Charcot-Marie-Tooth disease X-linked recessive type 4" EXACT [DOID:0110212, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 4" EXACT [OMIM:310490]
synonym: "CMT4X" EXACT ABBREVIATION [DOID:0110212, Orphanet:101078]
synonym: "CMTX 4" EXACT [GARD:0001240]
synonym: "CMTX4" EXACT ABBREVIATION [DOID:0110212, Orphanet:101078]
synonym: "cowchock syndrome" EXACT [DOID:0110212, MONDO:Lexical, OMIM:310490, Orphanet:101078]
synonym: "Cowchock syndrome, X-linked recessive" EXACT [OMIM:310490, OMIM:genemap2]
synonym: "COWCK" EXACT ABBREVIATION [DOID:0110212, MONDO:Lexical, OMIM:310490]
synonym: "NADMR" EXACT ABBREVIATION [DOID:0110212, OMIM:310490]
synonym: "NAMSD" EXACT ABBREVIATION [DOID:0110212]
synonym: "neuropathy, axonal motor-sensory with deafness and intellectual disability" RELATED [GARD:0001240]
synonym: "neuropathy, axonal motor-sensory with deafness and mental retardation" RELATED DEPRECATED [GARD:0001240]
synonym: "neuropathy, axonal motor-sensory, with deafness and intellectual disability" RELATED [OMIM:310490]
synonym: "neuropathy, axonal motor-sensory, with deafness and mental retardation" RELATED DEPRECATED [OMIM:310490]
synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110212]
xref: DOID:0110212 {source="MONDO:equivalentTo"}
xref: GARD:1240 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:101078", source="Orphanet:101078/attributed", source="Orphanet:101078/ntbt", source="DOID:0110212"}
xref: MEDGEN:162891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:310490 {source="Orphanet:101078", source="MONDO:equivalentTo", source="Orphanet:101078/e", source="DOID:0110212"}
xref: Orphanet:101078 {source="OMIM:310490", source="MONDO:equivalentTo", source="DOID:0110212"}
xref: SCTID:763400005 {source="MONDO:equivalentTo"}
xref: UMLS:C0795910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162891"}
is_a: MONDO:0015626 {source="DOID:0110212/inferred", source="MONDO:Redundant", source="OMIM:310490", source="Orphanet:101078/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018994 {source="DOID:0110212", source="Orphanet:101078"} ! Charcot-Marie-Tooth disease type X
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8768 {source="MONDO:mim2gene_medgen"} ! AIFM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010690
name: congenital stationary night blindness 1A
def: "A congenital stationary night blindness caused by variants in the X-linked NYX gene." [https://clinicalgenome.org/affiliation/40072/]
subset: gard_rare {source="GARD:15306", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "complete CSNB X-linked" EXACT [DOID:0110870]
synonym: "congenital stationary night blindness 1A" EXACT []
synonym: "congenital stationary night blindness 1A X-linked" EXACT [DOID:0110870]
synonym: "congenital stationary night blindness caused by mutation in NYX" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1A" EXACT [DOID:0110870, MONDORULE:4]
synonym: "congenital stationary night blindness with myopia" EXACT [DOID:0110870]
synonym: "CSNB, complete, X-linked" RELATED [OMIM:310500]
synonym: "CSNB1A" EXACT ABBREVIATION [DOID:0110870, MONDO:Lexical, OMIM:310500]
synonym: "hemeralopia-myopia" EXACT [DOID:0110870, OMIM:310500]
synonym: "myopia-night blindness" EXACT [DOID:0110870, OMIM:310500]
synonym: "NBMI" EXACT ABBREVIATION [DOID:0110870]
synonym: "night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive" EXACT [OMIM:310500, OMIM:genemap2]
synonym: "night blindness, congenital stationary, type 1A" EXACT [MONDO:Lexical, OMIM:310500]
synonym: "night blindness, congenital stationary, with myopia" RELATED [OMIM:310500]
synonym: "nyctalopia" RELATED [OMIM:310500]
synonym: "NYX congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NYX-related congenital stationary night blindness" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
xref: DOID:0110870 {source="MONDO:equivalentTo"}
xref: GARD:15306 {source="MONDO:GARD"}
xref: MEDGEN:501208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:310500 {source="MONDO:equivalentTo", source="DOID:0110870"}
xref: Orphanet:215 {source="OMIM:310500"}
xref: UMLS:C3495587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501208"}
is_a: MONDO:0016293 {source="DC-OMIM:310500", source="DOID:0110870", source="MONDO:Entailed", source="OMIM:310500"} ! congenital stationary night blindness
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
is_a: MONDO:0044749 {source="https://orcid.org/0000-0002-6601-2165"} ! X-linked congenital stationary night blindness
is_a: MONDO:0800407 {source="https://clinicalgenome.org/affiliation/40072/"} ! NYX-related retinopathy
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8082 ! NYX
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8082 {source="MONDO:mim2gene_medgen"} ! NYX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0010691
name: Norrie disease
def: "A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." [Orphanet:649]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1514"}
subset: ordo_disorder {source="Orphanet:649"}
subset: ordo_malformation_syndrome {source="Orphanet:649"}
subset: orphanet_rare {source="Orphanet:649"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Anderson-Warburg syndrome" RELATED [GARD:0007224]
synonym: "atrophia bulborum hereditaria" EXACT [DOID:0060844, OMIM:310600, Orphanet:649]
synonym: "Episkopi blindness" EXACT [DOID:0060844, OMIM:310600, Orphanet:649]
synonym: "fetal iritis syndrome" RELATED [GARD:0007224]
synonym: "foetal iritis syndrome" RELATED OMO:0003005 []
synonym: "ND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310600]
synonym: "nd" RELATED [OMIM:310600]
synonym: "NDP" RELATED ABBREVIATION [GARD:0007224]
synonym: "Norrie disease" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:310600]
synonym: "Norrie disease, X-linked recessive" EXACT [OMIM:310600, OMIM:genemap2]
synonym: "Norrie syndrome" RELATED [GARD:0007224]
synonym: "Norrie-Warburg disease" EXACT [DOID:0060844, Orphanet:649]
synonym: "Norrie-Warburg syndrome" RELATED [GARD:0007224]
synonym: "pseudoglioma" RELATED [GARD:0007224]
xref: DOID:0060844 {source="MONDO:equivalentTo"}
xref: GARD:7224 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/attributed", source="Orphanet:649/ntbt"}
xref: ICD9:743.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069760 {source="Orphanet:649", source="Orphanet:649/e"}
xref: MEDGEN:75615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537849 {source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/e"}
xref: NCIT:C118634 {source="MONDO:equivalentTo"}
xref: NORD:1514 {source="MONDO:NORD"}
xref: OMIM:310600 {source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/e"}
xref: Orphanet:649 {source="MONDO:equivalentTo", source="DOID:0060844", source="OMIM:310600"}
xref: SCTID:15228007 {source="MONDO:equivalentTo"}
xref: UMLS:C0266526 {source="MEDGEN:75615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020247 {source="Orphanet:649"} ! congenital vitreoretinal dysplasia
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:649", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7678 {source="MONDO:mim2gene_medgen"} ! NDP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7224/norrie-disease" xsd:anyURI {source="GARD:0007224"}

[Term]
id: MONDO:0010692
name: nuclear ribonucleic acid
synonym: "nRNA" RELATED [MONDO:Lexical, OMIM:310650]
synonym: "nuclear ribonucleic acid" EXACT [MONDO:Lexical, OMIM:310650]
xref: MEDGEN:374259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:310650 {source="MONDO:equivalentTo"}
xref: UMLS:C1839581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374259"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010693
name: nystagmus 1, congenital, X-linked
def: "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "congenital nystagmus caused by mutation in FRMD7" EXACT [MONDO:design_pattern]
synonym: "FRMD7 congenital nystagmus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NYS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310700]
synonym: "Nystagmus 1, congenital, X- linked" RELATED [GARD:0002969]
synonym: "NYSTAGMUS 1, congenital, X-linked" RELATED [OMIM:310700]
synonym: "nystagmus 1, congenital, X-linked" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:310700]
synonym: "Nystagmus 1, infantile, X-linked" RELATED [OMIM:310700]
synonym: "Nystagmus, congenital motor, 1" RELATED [OMIM:310700]
synonym: "Nystagmus, infantile idiopathic" RELATED [OMIM:310700]
synonym: "Nystagmus, infantile idiopathic, formerly" RELATED [OMIM:310700]
synonym: "Nystagmus, infantile periodic alternating, X-linked" RELATED [OMIM:310700]
synonym: "Xlpan" RELATED [OMIM:310700]
xref: DOID:0111790 {source="MONDO:equivalentTo"}
xref: MEDGEN:333352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537853 {source="MONDO:equivalentTo"}
xref: OMIM:310700 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:310700"}
xref: UMLS:C1839580 {source="MEDGEN:333352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005712 {source="DC-OMIM:310700", source="MONDO:Redundant", source="OMIM:310700"} ! congenital nystagmus
intersection_of: MONDO:0005712 ! congenital nystagmus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8079 ! FRMD7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8079 {source="MONDO:mim2gene_medgen"} ! FRMD7
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2969/nystagmus-1-congenital-x--linked" xsd:anyURI {source="GARD:0002969"}

[Term]
id: MONDO:0010694
name: nystagmus, myoclonic
synonym: "myoclonic nystagmus" RELATED [GARD:0009605]
synonym: "nystagmus, myoclonic" EXACT [OMIM:310800]
xref: MEDGEN:326918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564088 {source="MONDO:equivalentTo"}
xref: OMIM:310800 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:310800"}
xref: UMLS:C1839579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326918"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005712 {source="DC-OMIM:310800", source="https://orcid.org/0000-0002-6601-2165"} ! congenital nystagmus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9605/nystagmus-myoclonic" xsd:anyURI {source="GARD:0009605"}

[Term]
id: MONDO:0010695
name: occipital hair, white lock of
synonym: "occipital hair, white lock of" EXACT [OMIM:310900]
xref: MEDGEN:326917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:310900 {source="MONDO:equivalentTo"}
xref: UMLS:C1839578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326917"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010696
name: omphalocele, X-linked
subset: gard_rare {source="GARD:18587", source="MONDO:GARD"}
subset: rare
synonym: "omphalocele, X-linked" EXACT [OMIM:310980]
xref: GARD:18587 {source="MONDO:GARD"}
xref: MEDGEN:477256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:310980 {source="MONDO:equivalentTo"}
xref: Orphanet:660 {source="OMIM:310980"}
xref: UMLS:C3275625 {source="MEDGEN:477256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019015 {source="DC-OMIM:310980"} ! omphalocele

[Term]
id: MONDO:0010697
name: ophthalmoplegia, external, and myopia
synonym: "myopia-ophthalmoplegia syndrome" RELATED [OMIM:311000]
synonym: "OPEM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311000]
synonym: "ophthalmoplegia, external, and myopia" EXACT [MONDO:Lexical, OMIM:311000]
xref: MEDGEN:326916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564087 {source="MONDO:equivalentTo"}
xref: OMIM:311000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326916"}
is_a: MONDO:0003847 {source="MESH:C564087/inferred"} ! hereditary disease

[Term]
id: MONDO:0010698
name: optic atrophy 2
def: "A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected." [Orphanet:98890]
subset: gard_rare {source="GARD:10199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98890"}
subset: orphanet_rare {source="Orphanet:98890"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-Leber type optic atrophy with early-onset" EXACT [Orphanet:98890]
synonym: "OPA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311050, Orphanet:98890]
synonym: "optic atrophy 2" EXACT [MONDO:Lexical, OMIM:311050]
synonym: "optic atrophy 2, X-linked" EXACT [OMIM:311050, OMIM:genemap2]
synonym: "optic atrophy type 2" EXACT [Orphanet:98890]
synonym: "optic atrophy, non-Leber type, with early onset" RELATED [OMIM:311050]
synonym: "optic atrophy, X-linked" RELATED [OMIM:311050]
xref: DOID:0111443 {source="MONDO:equivalentTo"}
xref: GARD:10199 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:98890/attributed", source="Orphanet:98890/ntbt", source="Orphanet:98890"}
xref: MEDGEN:326915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537125 {source="MONDO:equivalentTo"}
xref: OMIM:311050 {source="Orphanet:98890/e", source="MONDO:equivalentTo", source="Orphanet:98890"}
xref: Orphanet:98890 {source="MONDO:equivalentTo", source="OMIM:311050"}
xref: SCTID:721200000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326915"}
is_a: MONDO:0043878 {source="DC-OMIM:311050", source="MESH:C537125", source="OMIM:311050"} ! hereditary optic atrophy
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:98890", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010699
name: Charcot-Marie-Tooth disease X-linked recessive 5
def: "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." [Orphanet:99014]
subset: gard_rare {source="GARD:114", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1677"}
subset: ordo_disorder {source="Orphanet:99014"}
subset: orphanet_rare {source="Orphanet:99014"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease X-linked recessive type 5" EXACT [DOID:0110210, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5" EXACT [MONDO:Lexical, OMIM:311070]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive" EXACT [OMIM:311070, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth disease, X-linked recessive, type 5" EXACT [MONDORULE:1, OMIM:311070]
synonym: "Charcot-Marie-Tooth neuropathy X type 5" EXACT [GARD:0000114]
synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 5" EXACT [DOID:0110210]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5" EXACT [OMIM:311070]
synonym: "CMT5X" EXACT ABBREVIATION [DOID:0110210, Orphanet:99014]
synonym: "CMTX5" EXACT ABBREVIATION [DOID:0110210, OMIM:311070, Orphanet:99014]
synonym: "familial opticoacoustic nerve degeneration and polyneuropathy" EXACT [GARD:0000114]
synonym: "optic atrophy, polyneuropathy, and deafness" EXACT [DOID:0110210, GARD:0000114, OMIM:311070]
synonym: "optic atrophy, sensorineural hearing loss and polyneuropathy" EXACT [GARD:0000114]
synonym: "Rosenberg Chutorian Syndrome" EXACT [NORD:1677]
synonym: "Rosenberg-Chutorian syndrome" EXACT [DOID:0110210, GARD:0000114, OMIM:311070]
synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [DOID:0110210]
xref: DOID:0110210 {source="MONDO:equivalentTo"}
xref: GARD:114 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99014/attributed", source="Orphanet:99014/ntbt", source="DOID:0110210", source="Orphanet:99014"}
xref: MEDGEN:374254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1677 {source="MONDO:NORD"}
xref: OMIM:311070 {source="GARD:0000114", source="Orphanet:99014/e", source="MONDO:equivalentTo", source="DOID:0110210", source="Orphanet:99014"}
xref: Orphanet:99014 {source="GARD:0000114", source="MONDO:equivalentTo", source="OMIM:311070", source="DOID:0110210"}
xref: SCTID:763460007 {source="MONDO:equivalentTo"}
xref: UMLS:C1839566 {source="MONDO:equivalentTo", source="MEDGEN:374254", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110210/inferred", source="MONDO:Redundant", source="OMIM:311070", source="Orphanet:99014/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018994 {source="DOID:0110210", source="Orphanet:99014"} ! Charcot-Marie-Tooth disease type X
is_a: MONDO:0019236 {source="Orphanet:99014"} ! inborn disorder of purine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 {source="MONDO:mim2gene_medgen"} ! PRPS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010700
name: optic atrophy--spastic paraplegia syndrome
synonym: "optic atrophy--spastic paraplegia syndrome" EXACT [OMIM:311100]
xref: MEDGEN:326914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564084 {source="MONDO:equivalentTo"}
xref: OMIM:311100 {source="MONDO:equivalentTo"}
xref: UMLS:C1839565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326914"}
is_a: MONDO:0003847 {source="MESH:C564084/inferred"} ! hereditary disease

[Term]
id: MONDO:0010701
name: obsolete opticoacoustic nerve atrophy with dementia
is_obsolete: true
replaced_by: MONDO:0010578

[Term]
id: MONDO:0010702
name: orofaciodigital syndrome I
def: "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." [Orphanet:2750]
subset: gard_rare {source="GARD:4121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2750"}
subset: ordo_malformation_syndrome {source="Orphanet:2750"}
subset: orphanet_rare {source="Orphanet:2750"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OFD syndrome 1" EXACT [GARD:0004121]
synonym: "OFD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311200, Orphanet:2750]
synonym: "OFDI" EXACT ABBREVIATION [Orphanet:2750]
synonym: "OFDS 1" EXACT [OMIM:311200]
synonym: "OFDSI" EXACT ABBREVIATION [Orphanet:2750]
synonym: "oral facial digital syndrome 1" EXACT [GARD:0004121]
synonym: "oral facial digital syndrome type 1" EXACT [GARD:0004121]
synonym: "oral-facial-digital syndrome 1" EXACT [GARD:0004121]
synonym: "oral-facial-digital syndrome type 1" EXACT [Orphanet:2750]
synonym: "oral-facial-digital syndrome, type 1" EXACT [OMIM:311200]
synonym: "orofaciodigital syndrome 1" EXACT [DOID:0060316]
synonym: "orofaciodigital syndrome I" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:311200]
synonym: "orofaciodigital syndrome i, X-linked dominant" EXACT [OMIM:311200, OMIM:genemap2]
synonym: "orofaciodigital syndrome type 1" EXACT [MONDORULE:1, OMIM:311200]
synonym: "orofaciodigital syndrome type I" EXACT [DOID:0060316, MONDORULE:1]
synonym: "Papillon-Leage and Psaume syndrome" EXACT [OMIM:311200]
synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316, Orphanet:2750]
synonym: "Papillon-league-Psaume syndrome (formerly)" EXACT [GARD:0004121]
synonym: "Papillon-Léage-Psaume syndrome" EXACT [Orphanet:2750]
xref: DOID:0060316 {source="MONDO:equivalentTo"}
xref: GARD:4121 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2750/attributed", source="Orphanet:2750/ntbt", source="Orphanet:2750", source="DOID:0060316"}
xref: MEDGEN:307142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537134 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: MESH:D009958 {source="DOID:0060316"}
xref: NCIT:C75481 {source="MONDO:equivalentTo"}
xref: OMIM:311200 {source="Orphanet:2750", source="MONDO:equivalentTo", source="DOID:0060316", source="Orphanet:2750/e"}
xref: Orphanet:2750 {source="MONDO:equivalentTo", source="OMIM:311200", source="DOID:0060316"}
xref: SCTID:1779005 {source="DOID:0060316", source="MONDO:directSiblingOf"}
xref: SCTID:239029009 {source="DOID:0060316"}
xref: SCTID:403773005 {source="DOID:0060316"}
xref: SCTID:52868006 {source="DOID:0060316"}
xref: SCTID:763833006 {source="MONDO:equivalentTo"}
xref: UMLS:C1510460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307142"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75481"} ! syndromic disease
is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0015375 {source="DC-OMIM:311200", source="DOID:0060316", source="Orphanet:2750", source="https://orcid.org/0000-0001-5208-3432"} ! orofaciodigital syndrome
relationship: excluded_subClassOf MONDO:0019287 {source="Orphanet:2750", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2750", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0021029 {source="Orphanet:2750", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary sebaceous gland anomaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2567 {source="MONDO:mim2gene_medgen"} ! OFD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010703
name: ornithine carbamoyltransferase deficiency
def: "Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications." [Orphanet:664]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:664"}
subset: orphanet_rare {source="Orphanet:664"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency of citrulline phosphorylase" EXACT [DOID:9271]
synonym: "OCT deficiency" EXACT [Orphanet:664]
synonym: "ornithine carbamoyltransferase deficiency" EXACT CLINGEN_LABEL [OMIM:311250, Orphanet:664]
synonym: "ornithine carbamoyltransferase deficiency disease" EXACT [NCIT:C84957]
synonym: "ornithine transcarbamylase deficiency" EXACT [DOID:9271]
synonym: "ornithine transcarbamylase deficiency, hyperammonemia due to" RELATED [OMIM:311250]
synonym: "OTC deficiency" EXACT [OMIM:311250, Orphanet:664]
synonym: "OTCD" EXACT ABBREVIATION [GARD:0008391]
synonym: "valproate sensitivity" RELATED [OMIM:311250]
xref: DOID:9271 {source="MONDO:equivalentTo", source="EFO:0007409"}
xref: EFO:0007409 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8391 {source="MONDO:GARD"}
xref: ICD10CM:E72.4 {source="Orphanet:664", source="Orphanet:664/ntbt", source="DOID:9271", source="Orphanet:664/inclusion"}
xref: MedDRA:10052450 {source="Orphanet:664", source="Orphanet:664/e"}
xref: MEDGEN:75692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020163 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e", source="EFO:0007409"}
xref: NANDO:1200804 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200479 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84957 {source="MONDO:equivalentTo", source="DOID:9271"}
xref: OMIM:311250 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e"}
xref: Orphanet:664 {source="OMIM:311250", source="MONDO:equivalentTo"}
xref: SCTID:124249000 {source="DOID:9271"}
xref: SCTID:80908008 {source="MONDO:equivalentTo", source="DOID:9271"}
xref: UMLS:C0268542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75692"}
is_a: MONDO:0004739 {source="DOID:9271", source="MESH:D020163", source="MONDO:Redundant", source="NCIT:C84957", source="OMIM:311250/inferred", source="Orphanet:664"} ! urea cycle disorder
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8512 {source="MONDO:mim2gene_medgen"} ! OTC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0010704
name: otopalatodigital syndrome type 1
def: "The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." [https://orcid.org/0000-0001-5208-3432, Orphanet:90650]
subset: gard_rare {source="GARD:5121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90650"}
subset: orphanet_rare {source="Orphanet:90650"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "frontootopalatodigital osteodysplasia" RELATED [OMIM:311300]
synonym: "OPD 1 syndrome" EXACT [OMIM:311300]
synonym: "OPD I syndrome" EXACT [Orphanet:90650]
synonym: "OPD syndrome" RELATED [GARD:0005121]
synonym: "OPD syndrome 1" EXACT [OMIM:311300, Orphanet:90650]
synonym: "OPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311300]
synonym: "oto-palato-digital syndrome type 1" EXACT [GARD:0005121]
synonym: "otopalatodigital spectrum disorder" RELATED [OMIM:311300]
synonym: "otopalatodigital syndrome, type 1" EXACT [OMIM:311300]
synonym: "otopalatodigital syndrome, type I" EXACT [MONDO:Lexical, OMIM:311300]
synonym: "otopalatodigital syndrome, type I, X-linked dominant" EXACT [OMIM:311300, OMIM:genemap2]
synonym: "Taybi syndrome" EXACT [Orphanet:90650]
xref: DOID:0111783 {source="MONDO:equivalentTo"}
xref: GARD:5121 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:90650", source="Orphanet:90650/attributed", source="Orphanet:90650/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118845 {source="MONDO:equivalentTo"}
xref: OMIM:311300 {source="MONDO:equivalentTo", source="Orphanet:90650", source="Orphanet:90650/e"}
xref: Orphanet:669 {source="OMIM:311300"}
xref: Orphanet:90650 {source="MONDO:equivalentTo", source="OMIM:311300"}
xref: SCTID:54036001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78542"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118845"} ! syndromic disease
is_a: MONDO:0019027 {source="OMIM:311300", source="Orphanet:90650"} ! otopalatodigital syndrome
is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010705
name: obsolete ouabain resistance
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "ouabain resistance" EXACT [MONDO:Lexical, OMIM:311350]
synonym: "OUBR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311350]
xref: OMIM:311350 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0010706
name: premature ovarian failure 1
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:642691"}
subset: orphanet_rare {source="Orphanet:642691"}
subset: rare
synonym: "familial premature ovarian failure" RELATED [GARD:0004480]
synonym: "FMR1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FMR1-related premature ovarian failure" RELATED [GARD:0004480]
synonym: "FMR1-related primary ovarian insufficiency" RELATED [GARD:0004480]
synonym: "fragile X-associated primary ovarian insufficiency" RELATED [GARD:0004480]
synonym: "fragile x-associated primary ovarian insufficiency" EXACT [Orphanet:642691]
synonym: "hypergonadotropic ovarian failure, X-linked" RELATED [OMIM:311360]
synonym: "idiopathic familial premature ovarian failure" RELATED [GARD:0004480]
synonym: "ovarian failure, premature" BROAD [OMIM:311360]
synonym: "Pof1" RELATED [MONDO:Lexical, OMIM:311360]
synonym: "premature ovarian failure 1" EXACT [MONDO:Lexical, OMIM:311360]
synonym: "premature ovarian failure type 1" EXACT [MONDORULE:1, OMIM:311360]
synonym: "premature ovarian failure, X-linked" RELATED [OMIM:311360]
synonym: "primary ovarian failure caused by mutation in FMR1" EXACT [MONDO:design_pattern]
xref: DOID:0080857 {source="MONDO:equivalentTo"}
xref: ICD9:256.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1644269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:311360 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:311360"}
xref: Orphanet:642691 {source="MONDO:equivalentTo"}
xref: UMLS:C4552079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644269"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:311360", source="OMIM:311360"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 ! FRAXA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 {source="MONDO:mim2gene_medgen", source="https://www.fragilex.org.uk/"} ! FRAXA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4883" xsd:anyURI

[Term]
id: MONDO:0010707
name: Paine syndrome
synonym: "microcephaly with spastic diplegia" RELATED [OMIM:311400]
synonym: "Paine syndrome" EXACT [OMIM:311400]
synonym: "Seemanova syndrome 1" RELATED [OMIM:311400]
xref: MEDGEN:234691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538101 {source="MONDO:equivalentTo"}
xref: OMIM:311400 {source="MONDO:equivalentTo"}
xref: UMLS:C1412041 {source="MEDGEN:234691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome" xsd:anyURI {source="GARD:0009780"}

[Term]
id: MONDO:0010708
name: Pallister-W syndrome
def: "A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." [Orphanet:2804]
subset: gard_rare {source="GARD:358", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2804"}
subset: ordo_malformation_syndrome {source="Orphanet:2804"}
subset: orphanet_rare {source="Orphanet:2804"}
subset: rare
synonym: "median cleft upper lip, intellectual disability and pugilistic facies" RELATED [GARD:0000358]
synonym: "median cleft upper lip, mental retardation and pugilistic facies" RELATED DEPRECATED [GARD:0000358]
synonym: "Pallister W syndrome" RELATED [OMIM:311450]
synonym: "Pallister-W syndrome" EXACT [Orphanet:2804]
synonym: "W syndrome" EXACT [OMIM:311450]
xref: GARD:358 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2804/attributed", source="Orphanet:2804/ntbt", source="Orphanet:2804"}
xref: MEDGEN:163215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538106 {source="MONDO:equivalentTo"}
xref: OMIM:311450 {source="Orphanet:2804/e", source="MONDO:equivalentTo", source="Orphanet:2804"}
xref: Orphanet:2804 {source="OMIM:311450", source="MONDO:equivalentTo"}
xref: SCTID:719020006 {source="MONDO:equivalentTo"}
xref: UMLS:C0796110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163215"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:2804", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015335 {source="Orphanet:2804", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Mendelian syndromes with cleft lip/palate
relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:2804", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2804", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0010709
name: early-onset parkinsonism-intellectual disability syndrome
def: "A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." [Orphanet:2379]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3203", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2379"}
subset: orphanet_rare {source="Orphanet:2379"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basal ganglia disorder with intellectual disability" RELATED [GARD:0003203]
synonym: "basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203]
synonym: "basal ganglion disorder with intellectual disability" RELATED [OMIM:311510]
synonym: "basal ganglion disorder with mental retardation" RELATED DEPRECATED [OMIM:311510]
synonym: "BGMR" RELATED ABBREVIATION [GARD:0003203]
synonym: "early-onset parkinsonism-intellectual disability syndrome" EXACT CLINGEN_LABEL []
synonym: "Laxova Brown hogan syndrome" RELATED [GARD:0003203]
synonym: "Laxova-Opitz syndrome" EXACT [Orphanet:2379]
synonym: "Parkinsonism, early onset with intellectual disability" RELATED [GARD:0003203]
synonym: "Parkinsonism, early onset with mental retardation" RELATED DEPRECATED [GARD:0003203]
synonym: "Parkinsonism, early-onset, with intellectual disability" RELATED [OMIM:311510]
synonym: "Parkinsonism, early-onset, with mental retardation" RELATED DEPRECATED [OMIM:311510]
synonym: "WAISMAN syndrome" RELATED [MONDO:Lexical, OMIM:311510]
synonym: "Waisman syndrome" EXACT [Orphanet:2379]
synonym: "Waisman syndrome, X-linked recessive" EXACT [OMIM:311510, OMIM:genemap2]
synonym: "WSMN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311510]
synonym: "Wsn" RELATED [OMIM:311510]
synonym: "X-linked recessive basal ganglia disorder with intellectual disability" RELATED [GARD:0003203]
synonym: "X-linked recessive basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203]
xref: DOID:0111781 {source="MONDO:equivalentTo"}
xref: GARD:3203 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="Orphanet:2379/attributed", source="Orphanet:2379/ntbt", source="Orphanet:2379"}
xref: icd11.foundation:937544163 {source="Orphanet:2379", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:208674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537179 {source="MONDO:equivalentTo"}
xref: OMIM:311510 {source="Orphanet:2379", source="MONDO:equivalentTo", source="Orphanet:2379/e"}
xref: Orphanet:2379 {source="MONDO:equivalentTo", source="OMIM:311510"}
xref: SCTID:716107009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208674"}
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2379", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16499 {source="MONDO:mim2gene_medgen"} ! RAB39B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010710
name: Pierre Robin syndrome-faciodigital anomaly syndrome
def: "This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal." [Orphanet:2888]
subset: gard_rare {source="GARD:1274", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2888"}
subset: ordo_malformation_syndrome {source="Orphanet:2888"}
subset: orphanet_rare {source="Orphanet:2888"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chitayat Meunier Hodgkinson syndrome" RELATED [GARD:0001274]
synonym: "Chitayat-Meunier-Hodgkinson syndrome" EXACT [Orphanet:2888]
synonym: "Pierre Robin sequence with facial and digital anomalies" RELATED [OMIM:311895]
synonym: "Pierre Robin sequence-faciodigital anomaly syndrome" EXACT [Orphanet:2888]
synonym: "Pierre Robin syndrome, faciodigital anomaly" RELATED [GARD:0001274]
synonym: "Robin sequence with facial and digital anomalies" RELATED [GARD:0001274, MESH:C535926]
xref: GARD:1274 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2888", source="Orphanet:2888/attributed", source="Orphanet:2888/ntbt"}
xref: MEDGEN:443969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535926 {source="MONDO:equivalentTo"}
xref: OMIM:311895 {source="MONDO:equivalentTo", source="Orphanet:2888", source="GARD:0001274", source="Orphanet:2888/e"}
xref: Orphanet:2888 {source="MONDO:equivalentTo", source="OMIM:311895", source="GARD:0001274"}
xref: SCTID:723461007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443969"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome" xsd:anyURI {source="GARD:0001274"}

[Term]
id: MONDO:0010711
name: TARP syndrome
def: "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." [Orphanet:2886]
subset: gard_rare {source="GARD:10089", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2886"}
subset: ordo_malformation_syndrome {source="Orphanet:2886"}
subset: orphanet_rare {source="Orphanet:2886"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pierre Robin sequence - congenital heart defect - talipes" RELATED [GARD:0010089]
synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886]
synonym: "Pierre Robin syndrome - congenital heart defect - talipes" RELATED [GARD:0010089]
synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" RELATED [OMIM:311900]
synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886]
synonym: "talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava" RELATED [GARD:0010089]
synonym: "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava" RELATED [OMIM:311900]
synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT [Orphanet:2886]
synonym: "tarp syndrome" EXACT [MONDO:Lexical, OMIM:311900]
synonym: "TARP syndrome, X-linked recessive" EXACT [OMIM:311900, OMIM:genemap2]
synonym: "TARPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311900]
xref: DOID:0111780 {source="MONDO:equivalentTo"}
xref: GARD:10089 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2886", source="Orphanet:2886/attributed", source="Orphanet:2886/ntbt"}
xref: MEDGEN:333324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536942 {source="MONDO:equivalentTo", source="Orphanet:2886", source="Orphanet:2886/e"}
xref: OMIM:311900 {source="MONDO:equivalentTo", source="Orphanet:2886", source="Orphanet:2886/e"}
xref: Orphanet:2886 {source="MONDO:equivalentTo", source="OMIM:311900"}
xref: SCTID:725911008 {source="MONDO:equivalentTo"}
xref: UMLS:C1839463 {source="MEDGEN:333324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
relationship: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9896 {source="MONDO:mim2gene_medgen"} ! RBM10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome" xsd:anyURI {source="GARD:0010089"}

[Term]
id: MONDO:0010712
name: panhypopituitarism, X-linked
subset: gard_rare {source="GARD:6737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "panhypopituitarism X-linked" RELATED [GARD:0006737]
synonym: "panhypopituitarism, X-linked" EXACT [MONDO:Lexical, OMIM:312000]
synonym: "PHPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312000]
synonym: "pituitary dwarfism IV" RELATED [OMIM:312000]
synonym: "pituitary dwarfism IV (formerly)" RELATED [GARD:0006737]
synonym: "pituitary dwarfism IV, formerly" RELATED [OMIM:312000]
xref: DOID:0111779 {source="MONDO:equivalentTo"}
xref: GARD:6737 {source="MONDO:GARD"}
xref: MEDGEN:87439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538613 {source="MONDO:equivalentTo"}
xref: OMIM:312000 {source="MONDO:equivalentTo"}
xref: Orphanet:90695 {source="OMIM:312000"}
xref: SCTID:237683004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342376 {source="MEDGEN:87439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019591 {source="Orphanet:90695/btnt"} ! panhypopituitarism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11199 {source="MONDO:mim2gene_medgen"} ! SOX3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked" xsd:anyURI {source="GARD:0006737"}

[Term]
id: MONDO:0010713
name: properdin deficiency, X-linked
def: "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease." [Orphanet:2966]
subset: gard_rare {source="GARD:4513", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2966"}
subset: orphanet_rare {source="Orphanet:2966"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312060]
synonym: "complement Factor properdin deficiency" RELATED [OMIM:312060]
synonym: "PFD" RELATED ABBREVIATION [GARD:0009913]
synonym: "properdin deficiency, type 1" RELATED [OMIM:312060]
synonym: "properdin deficiency, type 2" RELATED [OMIM:312060]
synonym: "properdin deficiency, type 3" RELATED [OMIM:312060]
synonym: "properdin deficiency, X-linked" EXACT [MONDO:Lexical, OMIM:312060]
synonym: "properdin deficiency, X-linked, X-linked recessive" EXACT [OMIM:312060, OMIM:genemap2]
synonym: "properdin P Factor deficiency" RELATED [OMIM:312060]
xref: DOID:0111768 {source="MONDO:equivalentTo"}
xref: GARD:4513 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:2966", source="Orphanet:2966/attributed", source="Orphanet:2966/ntbt"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:333322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537241 {source="MONDO:equivalentTo", source="Orphanet:2966", source="Orphanet:2966/e"}
xref: NANDO:2200789 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:312060 {source="MONDO:equivalentTo", source="Orphanet:2966", source="Orphanet:2966/e"}
xref: Orphanet:2966 {source="MONDO:equivalentTo", source="OMIM:312060"}
xref: SCTID:81166004 {source="MONDO:equivalentTo"}
xref: UMLS:C1839454 {source="MEDGEN:333322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8864 {source="MONDO:mim2gene_medgen"} ! CFP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010714
name: Pelizeaus-Merzbacher spectrum disorder
def: "An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." [Orphanet:702]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4265", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:702"}
subset: orphanet_rare {source="Orphanet:702"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse familial brain sclerosis" EXACT [DOID:3210, Orphanet:702]
synonym: "HLD1" EXACT ABBREVIATION [DOID:3210]
synonym: "hypomyelinating leukodystrophy 1" EXACT [DOID:3210]
synonym: "leukodystrophy, hypomyelinating, 1" RELATED [OMIM:312080]
synonym: "leukodystrophy, sudanophilic" EXACT [DOID:3210]
synonym: "Pelizaeus Merzbacher brain sclerosis" EXACT [DOID:3210]
synonym: "Pelizaeus Merzbacher disease" RELATED [GARD:0004265]
synonym: "Pelizaeus-Merzbacher brain sclerosis" EXACT [DOID:3210, Orphanet:702]
synonym: "Pelizaeus-Merzbacher disease" EXACT [MONDO:Lexical, OMIM:312080, Orphanet:702]
synonym: "Pelizaeus-Merzbacher disease, X-linked recessive" EXACT [OMIM:312080, OMIM:genemap2]
synonym: "Pelizeaus-Merzbacher spectrum disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40006/]
synonym: "PMD" EXACT ABBREVIATION [DOID:3210, MONDO:Lexical, OMIM:312080, Orphanet:702]
synonym: "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [Orphanet:702]
synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [DOID:3210]
xref: DECIPHER:38 {source="MONDO:equivalentTo"}
xref: DOID:3210 {source="MONDO:equivalentTo"}
xref: GARD:4265 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="DOID:3210", source="Orphanet:702/ntbt", source="Orphanet:702", source="Orphanet:702/index"}
xref: icd11.foundation:1313582105 {source="Orphanet:702", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10067610 {source="Orphanet:702", source="Orphanet:702/e"}
xref: MEDGEN:61440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020371 {source="DOID:3210", source="Orphanet:702", source="MONDO:equivalentTo", source="Orphanet:702/e"}
xref: NANDO:1200576 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201288 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75487 {source="DOID:3210", source="MONDO:equivalentTo"}
xref: OMIM:312080 {source="DOID:3210", source="Orphanet:702", source="MONDO:equivalentTo", source="Orphanet:702/e"}
xref: Orphanet:702 {source="DOID:3210", source="MONDO:equivalentTo", source="OMIM:312080"}
xref: SCTID:64855000 {source="DOID:3210", source="MONDO:equivalentTo"}
xref: UMLS:C0205711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61440"}
is_a: MONDO:0005559 {source="MESH:D020371/inferred", source="MONDO:Redundant", source="NCIT:C75487", source="Orphanet:702/inferred"} ! neurodegenerative disease
is_a: MONDO:0019046 {source="DOID:3210", source="DOID:3210/inferred", source="OMIM:312080", source="Orphanet:702"} ! leukodystrophy
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:702", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9086 {source="MONDO:mim2gene_medgen"} ! PLP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7081" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease" xsd:anyURI {source="GARD:0004265"}

[Term]
id: MONDO:0010715
name: obsolete pseudohermaphroditism, incomplete male, type 1
comment: OMIM merged these
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1697" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010720

[Term]
id: MONDO:0010716
name: X-linked lethal multiple pterygium syndrome
def: "X-linked form of lethal multiple pterygium syndrome." [MONDO:patterns/x_linked]
subset: gard_rare {source="GARD:4573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79447"}
subset: ordo_malformation_syndrome {source="Orphanet:79447"}
subset: orphanet_rare {source="Orphanet:79447"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lethal multiple pterygium syndrome, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "multiple pterygium syndrome X-linked" RELATED [GARD:0004573]
synonym: "multiple pterygium syndrome, X-linked" RELATED [OMIM:312150]
synonym: "pterygium syndrome multiple X-linked" RELATED [GARD:0004573]
synonym: "pterygium syndrome, multiple, X-linked" RELATED [OMIM:312150]
xref: GARD:4573 {source="MONDO:GARD"}
xref: ICD10CM:Q79.8 {source="Orphanet:79447", source="Orphanet:79447/attributed", source="Orphanet:79447/ntbt"}
xref: MEDGEN:374225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564072 {source="MONDO:equivalentTo"}
xref: OMIM:312150 {source="Orphanet:79447", source="MONDO:equivalentTo", source="Orphanet:79447/e", source="GARD:0004573"}
xref: Orphanet:79447 {source="MONDO:equivalentTo", source="OMIM:312150", source="GARD:0004573"}
xref: SCTID:763462004 {source="MONDO:equivalentTo"}
xref: UMLS:C1839440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374225"}
intersection_of: MONDO:0009668 ! lethal multiple pterygium syndrome
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked" xsd:anyURI {source="GARD:0004573"}

[Term]
id: MONDO:0010717
name: pyruvate dehydrogenase E1-alpha deficiency
def: "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." [Orphanet:79243]
subset: gard_rare {source="GARD:4620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79243"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia with lactic acidosis 1" RELATED [GARD:0004620, OMIM:312170]
synonym: "ataxia, intermittent, with abnormal pyruvate metabolism" RELATED [OMIM:312170]
synonym: "ataxia, intermittent, with pyruvate dehydrogenase deficiency" RELATED [OMIM:312170]
synonym: "ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency" RELATED [GARD:0004620]
synonym: "lactic acidemia, thiamine-responsive" RELATED [OMIM:312170]
synonym: "PDH deficiency" RELATED [OMIM:312170]
synonym: "PDHAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:312170, Orphanet:79243]
synonym: "pyruvate decarboxylase deficiency" BROAD [Orphanet:79243]
synonym: "pyruvate dehydrogenase Complex deficiency" RELATED [OMIM:312170]
synonym: "pyruvate dehydrogenase complex E1 component subunit alpha deficiency" EXACT [Orphanet:79243]
synonym: "pyruvate dehydrogenase E1-ALPHA deficiency" RELATED [OMIM:312170]
synonym: "pyruvate dehydrogenase E1-alpha deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:312170]
synonym: "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant" EXACT [OMIM:312170, OMIM:genemap2]
xref: GARD:4620 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:79243", source="Orphanet:79243/attributed", source="Orphanet:79243/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:326486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564071 {source="MONDO:equivalentTo"}
xref: OMIM:312170 {source="GARD:0004620", source="Orphanet:79243/e", source="MONDO:equivalentTo", source="Orphanet:79243"}
xref: Orphanet:100977 {source="GARD:0004620"}
xref: Orphanet:765 {source="OMIM:312170"}
xref: Orphanet:79243 {source="MONDO:equivalentTo", source="OMIM:312170"}
xref: SCTID:124593001 {source="MONDO:equivalentTo"}
xref: UMLS:C1839413 {source="MEDGEN:326486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019169 {source="DC-OMIM:312170", source="OMIM:312170", source="Orphanet:79243"} ! pyruvate dehydrogenase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8806 {source="MONDO:mim2gene_medgen"} ! PDHA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010718
name: absent radius-anogenital anomalies syndrome
def: "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993." [Orphanet:3016]
subset: gard_rare {source="GARD:4633", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3016"}
subset: ordo_malformation_syndrome {source="Orphanet:3016"}
subset: orphanet_rare {source="Orphanet:3016"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "radial aplasia and anogenital anomalies" RELATED [OMIM:312190]
synonym: "radial aplasia, X-linked" RELATED [OMIM:312190]
synonym: "radius absent anogenital anomalies" RELATED [GARD:0004633]
xref: GARD:4633 {source="MONDO:GARD"}
xref: MEDGEN:333312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535281 {source="Orphanet:3016", source="MONDO:equivalentTo", source="Orphanet:3016/e"}
xref: OMIM:312190 {source="Orphanet:3016", source="MONDO:equivalentTo", source="Orphanet:3016/e"}
xref: Orphanet:3016 {source="MONDO:equivalentTo", source="OMIM:312190"}
xref: UMLS:C1839410 {source="MONDO:equivalentTo", source="MEDGEN:333312", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010719
name: radiation sensitivity of natural killer activity
synonym: "radiation sensitivity of natural killer activity" EXACT [OMIM:312210]
synonym: "X-Ray Nk sensitivity" RELATED [OMIM:312210]
xref: MEDGEN:333311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564066 {source="MONDO:equivalentTo"}
xref: OMIM:312210 {source="MONDO:equivalentTo"}
xref: UMLS:C1839408 {source="MEDGEN:333311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564066/inferred"} ! hereditary disease

[Term]
id: MONDO:0010720
name: partial androgen insensitivity syndrome
def: "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens." [Orphanet:90797]
subset: gard_rare {source="GARD:5692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:771"}
subset: ordo_disorder {source="Orphanet:90797"}
subset: orphanet_rare {source="Orphanet:90797"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "androgen insensitivity syndrome, partial" RELATED [GARD:0005692, GTR:AN0098649]
synonym: "androgen insensitivity, partial" EXACT [MONDO:Lexical, OMIM:312300]
synonym: "androgen insensitivity, partial, with or without breast cancer" EXACT [OMIM:312300]
synonym: "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" EXACT [OMIM:312300, OMIM:genemap2]
synonym: "androgen resistance syndrome, partial" RELATED [GARD:0005692, GTR:AN0098650]
synonym: "familial incomplete Male pseudohermaphroditism, type 1" EXACT [OMIM:312300]
synonym: "incomplete male pseudohermaphroditism" RELATED [GTR:AN0098651]
synonym: "PAIS" EXACT ABBREVIATION [GTR:AN0098652, MONDO:Lexical, OMIM:312300, Orphanet:90797]
synonym: "pais" EXACT [OMIM:312300]
synonym: "partial androgen resistance syndrome" EXACT [Orphanet:90797]
synonym: "pseudohermaphroditism, incomplete male, type I" EXACT [MONDO:0010715, OMIM:312100]
synonym: "Reifenstein syndrome" EXACT [OMIM:312300]
synonym: "Reifenstein syndrome, partial" EXACT [GARD:0005692, GTR:AN0098654]
synonym: "type I familial incomplete male pseudohermaphroditism" RELATED [GTR:AN0098655]
xref: DOID:0080776 {source="MONDO:equivalentTo"}
xref: GARD:5692 {source="MONDO:GARD"}
xref: GTR:AN0098649
xref: GTR:AN0098650
xref: GTR:AN0098651
xref: GTR:AN0098652
xref: GTR:AN0098654
xref: GTR:AN0098655
xref: ICD10CM:E34.5 {source="Orphanet:90797/attributed", source="Orphanet:90797/ntbt", source="Orphanet:90797"}
xref: ICD10CM:E34.52 {source="MONDO:equivalentTo"}
xref: MEDGEN:82785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538435 {source="MONDO:equivalentTo"}
xref: NCIT:C120192 {source="MONDO:equivalentTo"}
xref: NORD:771 {source="MONDO:NORD"}
xref: OMIM:307300 {source="MONDO:equivalentObsolete"}
xref: OMIM:312100 {source="MONDO:equivalentObsolete"}
xref: OMIM:312300 {source="Orphanet:90797/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:90797"}
xref: Orphanet:90797 {source="MONDO:equivalentTo", source="OMIM:312300"}
xref: SCTID:122811000119101 {source="MONDO:equivalentTo"}
xref: UMLS:C0268301 {source="MEDGEN:82785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C538435/inferred"} ! hereditary disease
is_a: MONDO:0019154 {source="NCIT:C120192", source="Orphanet:90797"} ! androgen insensitivity syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome" xsd:anyURI {source="GARD:0005692"}

[Term]
id: MONDO:0010721
name: reticuloendotheliosis, X-linked
synonym: "reticuloendotheliosis" RELATED [GARD:0007559]
synonym: "reticuloendotheliosis, X-linked" EXACT [OMIM:312500]
xref: MEDGEN:19757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538362 {source="MONDO:equivalentTo"}
xref: OMIM:312500 {source="MONDO:equivalentTo"}
xref: UMLS:C0035288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19757"}
is_a: MONDO:0003847 {source="MESH:C538362/inferred"} ! hereditary disease

[Term]
id: MONDO:0010722
name: X-linked retinal dysplasia
subset: gard_rare {source="GARD:4680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1852"}
subset: orphanet_rare {source="Orphanet:1852"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312550]
synonym: "retinal dysplasia X-linked" RELATED [GARD:0004680]
synonym: "retinal dysplasia, primary" RELATED [MONDO:Lexical, OMIM:312550]
xref: GARD:4680 {source="MONDO:GARD"}
xref: ICD10CM:Q14.1 {source="Orphanet:1852", source="Orphanet:1852/attributed", source="Orphanet:1852/ntbt"}
xref: MEDGEN:909011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:312550 {source="MONDO:equivalentTo", source="Orphanet:1852", source="Orphanet:1852/e"}
xref: Orphanet:1852 {source="OMIM:312550", source="MONDO:equivalentTo"}
xref: SCTID:715240000 {source="MONDO:equivalentTo"}
xref: UMLS:C4275241 {source="MEDGEN:909011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="Orphanet:1852"} ! inherited retinal dystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked" xsd:anyURI {source="GARD:0004680"}

[Term]
id: MONDO:0010723
name: retinitis pigmentosa 2
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:312600]
synonym: "retinitis pigmentosa caused by mutation in RP2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 2" EXACT [DOID:0110415, MONDORULE:1, OMIM:312600]
synonym: "RP2" EXACT ABBREVIATION [DOID:0110415, MONDO:Lexical, OMIM:312600]
synonym: "RP2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110415 {source="MONDO:equivalentTo"}
xref: GARD:10380 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110415", source="MONDO:relatedTo"}
xref: MEDGEN:394544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567523 {source="MONDO:equivalentTo"}
xref: OMIM:312600 {source="DOID:0110415", source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:312600"}
xref: UMLS:C2681923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394544"}
is_a: MONDO:0019200 {source="DC-OMIM:312600", source="DOID:0110415", source="MESH:C567523", source="MONDO:Redundant", source="OMIM:312600"} ! retinitis pigmentosa
is_a: MONDO:0100442 {source="https://clinicalgenome.org/affiliation/40072/"} ! RP2-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10274 ! RP2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10274 {source="MONDO:mim2gene_medgen"} ! RP2

[Term]
id: MONDO:0010724
name: obsolete RP6
is_obsolete: true
replaced_by: MONDO:0000910

[Term]
id: MONDO:0010725
name: X-linked retinoschisis
def: "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." [Orphanet:792]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1864"}
subset: ordo_disorder {source="Orphanet:792"}
subset: ordo_malformation_syndrome {source="Orphanet:792"}
subset: orphanet_rare {source="Orphanet:792"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile retinoschisis" RELATED [GARD:0004690]
synonym: "juvenile X-linked retinoschisis" EXACT [NCIT:C75483]
synonym: "retinoschisis 1, X-linked, juvenile" RELATED [MONDO:Lexical, OMIM:312700]
synonym: "retinoschisis juvenile X chromosome-linked" RELATED [GARD:0004690]
synonym: "retinoschisis X-linked" RELATED [GARD:0004690]
synonym: "retinoschisis, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked]
synonym: "retinoschisis, X-linked recessive" EXACT [OMIM:312700, OMIM:genemap2]
synonym: "RS" RELATED ABBREVIATION [OMIM:312700]
synonym: "RS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312700]
synonym: "X-linked juvenile retinoschisis" EXACT [DOID:0060763, Orphanet:792]
synonym: "X-linked juvenile retinoschisis 1" RELATED [DOID:0060763]
synonym: "X-linked juvenile retinoschisis type 1" EXACT [DOID:0060763, MONDORULE:1]
synonym: "X-linked retinoschisis" EXACT CLINGEN_LABEL [DOID:0060763]
synonym: "XJR" RELATED ABBREVIATION [GARD:0004690]
synonym: "XLRS" EXACT ABBREVIATION [DOID:0060763, Orphanet:792]
synonym: "XLRS1" RELATED ABBREVIATION [OMIM:312700]
xref: DOID:0060763 {source="MONDO:equivalentTo"}
xref: GARD:4690 {source="MONDO:GARD"}
xref: ICD10CM:Q14.1 {source="DOID:0060763", source="Orphanet:792/attributed", source="Orphanet:792/ntbt", source="Orphanet:792"}
xref: icd11.foundation:2074506458 {source="MONDO:equivalentTo", source="Orphanet:792", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:811458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200938 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75483 {source="MONDO:equivalentTo"}
xref: NORD:1864 {source="MONDO:NORD"}
xref: OMIM:312700 {source="Orphanet:792/e", source="DOID:0060763", source="MONDO:equivalentTo", source="Orphanet:792"}
xref: Orphanet:792 {source="DOID:0060763", source="MONDO:equivalentTo", source="OMIM:312700"}
xref: SCTID:86923008 {source="MONDO:equivalentTo"}
xref: UMLS:C3714753 {source="MEDGEN:811458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004579 {source="DC-OMIM:312700", source="DOID:0060763", source="MONDO:Redundant"} ! retinoschisis
is_a: MONDO:0020248 {source="Orphanet:792"} ! vitreoretinal degeneration
intersection_of: MONDO:0004579 ! retinoschisis
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10457 {source="MONDO:mim2gene_medgen"} ! RS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010726
name: Rett syndrome
def: "A severe neurodevelopmental disorder affecting the central nervous system." [Orphanet:778]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1666"}
subset: ordo_disorder {source="Orphanet:778"}
subset: orphanet_rare {source="Orphanet:778"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autism, dementia, ataxia, and loss of purposeful hand use" RELATED [OMIM:312750]
synonym: "cerebroatrophic hyperammonemia" EXACT [DOID:1206]
synonym: "Rett syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:312750]
synonym: "Rett syndrome, atypical" RELATED [OMIM:312750]
synonym: "rett syndrome, atypical, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2]
synonym: "Rett syndrome, preserved speech variant" RELATED [OMIM:312750]
synonym: "rett syndrome, preserved speech variant, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2]
synonym: "rett syndrome, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2]
synonym: "Rett syndrome, Zappella variant" RELATED [OMIM:312750]
synonym: "Rett's disorder" EXACT [DOID:1206]
synonym: "Rts" RELATED [OMIM:312750]
synonym: "RTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312750]
xref: DOID:1206 {source="MONDO:equivalentTo"}
xref: GARD:5696 {source="MONDO:GARD"}
xref: ICD10CM:F84.2 {source="Orphanet:778", source="Orphanet:778/specific", source="DOID:1206", source="Orphanet:778/e"}
xref: icd11.foundation:201200685 {source="Orphanet:778", source="MONDO:equivalentTo"}
xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10039000 {source="Orphanet:778", source="Orphanet:778/e"}
xref: MEDGEN:48441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015518 {source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="Orphanet:778/e"}
xref: NANDO:1200603 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200604 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100219 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200825 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75488 {source="MONDO:equivalentTo", source="DOID:1206"}
xref: NORD:1666 {source="MONDO:NORD"}
xref: OMIM:312750 {source="Orphanet:778", source="MONDO:equivalentTo", source="DOID:1206", source="Orphanet:778/e"}
xref: Orphanet:3095 {source="OMIM:312750"}
xref: Orphanet:778 {source="OMIM:312750", source="MONDO:equivalentTo"}
xref: SCTID:192583003 {source="DOID:1206"}
xref: SCTID:68618008 {source="MONDO:equivalentTo", source="DOID:1206"}
xref: UMLS:C0035372 {source="MONDO:equivalentTo", source="MEDGEN:48441", source="MONDO:MEDGEN"}
is_a: MONDO:0000594 {source="Orphanet:778"} ! pervasive developmental disorder
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75488"} ! syndromic disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: disease_has_feature MONDO:0005260 {source="NCIT:C88412"} ! autism
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:778", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0017656 {source="Orphanet:778", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete motor stereotypies
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:778", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6990 {source="MONDO:mim2gene_medgen"} ! MECP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010727
name: Russell-silver syndrome, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Partington syndrome" RELATED [OMIM:312780]
synonym: "Russell-silver syndrome, X-linked" EXACT [OMIM:312780]
synonym: "Russell-Silver-like syndrome with skin pigmentation" RELATED [OMIM:312780]
xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:67401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:312780 {source="MONDO:equivalentTo"}
xref: Orphanet:813 {source="OMIM:312780"}
xref: SCTID:702412005 {source="MONDO:equivalentTo"}
xref: UMLS:C0220775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67401"}
is_a: MONDO:0008394 {source="Orphanet:813/btnt"} ! Silver-Russell syndrome

[Term]
id: MONDO:0010728
name: SCARF syndrome
def: "A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." [Orphanet:3134]
subset: gard_rare {source="GARD:247", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3134"}
subset: ordo_malformation_syndrome {source="Orphanet:3134"}
subset: orphanet_rare {source="Orphanet:3134"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCARF syndrome" EXACT [OMIM:312830]
synonym: "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" RELATED [OMIM:312830]
xref: GARD:247 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:3134", source="Orphanet:3134/attributed", source="Orphanet:3134/ntbt"}
xref: MEDGEN:326461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536625 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"}
xref: OMIM:312830 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"}
xref: Orphanet:3134 {source="MONDO:equivalentTo", source="OMIM:312830"}
xref: SCTID:734173003 {source="MONDO:equivalentTo"}
xref: UMLS:C1839321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326461"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:3134", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015338 {source="Orphanet:3134", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic craniosynostosis
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:3134", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0100237 {source="MESH:C536625", source="Orphanet:3134", source="https://orcid.org/0000-0001-5208-3432"} ! inherited cutis laxa

[Term]
id: MONDO:0010729
name: X-linked intellectual disability, Schimke type
def: "X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." [Orphanet:85285]
subset: gard_rare {source="GARD:9288", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85285"}
subset: ordo_malformation_syndrome {source="Orphanet:85285"}
subset: orphanet_rare {source="Orphanet:85285"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness" RELATED [GARD:0009288]
synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" RELATED DEPRECATED [GARD:0009288]
synonym: "choreoathetosis with intellectual disability X- linked" RELATED [GARD:0009288]
synonym: "choreoathetosis with intellectual disability, X-linked" RELATED [OMIM:312840]
synonym: "choreoathetosis with mental retardation X- linked" RELATED DEPRECATED [GARD:0009288]
synonym: "choreoathetosis with mental retardation, X-linked" RELATED DEPRECATED [OMIM:312840]
synonym: "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" RELATED [GARD:0009288]
synonym: "Schimke X-linked intellectual disability syndrome" RELATED [OMIM:312840]
synonym: "Schimke X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:312840]
xref: GARD:9288 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85285/attributed", source="Orphanet:85285/ntbt", source="Orphanet:85285"}
xref: MEDGEN:374193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536630 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="Orphanet:85285"}
xref: OMIM:312840 {source="Orphanet:85285/e", source="MONDO:equivalentTo", source="Orphanet:85285"}
xref: Orphanet:85285 {source="MONDO:equivalentTo", source="OMIM:312840"}
xref: SCTID:719010001 {source="MONDO:equivalentTo"}
xref: UMLS:C1839320 {source="MEDGEN:374193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="Orphanet:85285", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010730
name: combined immunodeficiency, X-linked
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CIDX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312863]
synonym: "combined immunodeficiency, X-linked" EXACT [MONDO:Lexical, OMIM:312863]
synonym: "combined immunodeficiency, X-linked, moderate, X-linked recessive" EXACT [OMIM:312863, OMIM:genemap2]
synonym: "immunodeficiency 6" RELATED [OMIM:312863]
synonym: "Xcid" RELATED [OMIM:312863]
xref: EFO:1001451 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: OMIM:312863 {source="MONDO:equivalentTo"}
is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0015131 {source="DC-OMIM:312863", source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6010 {source="MONDO:mim2gene_medgen"} ! IL2RG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010731
name: Simpson-Golabi-Behmel syndrome
def: "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk." [Orphanet:373]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7649", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1717", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:373"}
subset: ordo_malformation_syndrome {source="Orphanet:373"}
subset: orphanet_rare {source="Orphanet:373"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DGSX" EXACT ABBREVIATION [Orphanet:373]
synonym: "dysplasia gigantism syndrome, X-linked" RELATED [OMIM:312870]
synonym: "Golabi-Rosen syndrome" EXACT [DOID:0060248, Orphanet:373]
synonym: "Sara Angers syndrome" EXACT [DOID:0060248]
synonym: "SDYS" EXACT ABBREVIATION [Orphanet:373]
synonym: "SGB syndrome" EXACT [DOID:0060248]
synonym: "SGBS" EXACT ABBREVIATION [Orphanet:373]
synonym: "Sgbs" RELATED [OMIM:312870]
synonym: "Simpson-Golabi-Behmel syndrome" EXACT CLINGEN_LABEL []
synonym: "X-linked dysplasia gigantism syndrome" EXACT [DOID:0060248, Orphanet:373]
xref: GARD:7649 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:373", source="Orphanet:373/attributed", source="Orphanet:373/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1387611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537340 {source="Orphanet:373/e", source="DOID:0060248", source="MONDO:equivalentTo", source="Orphanet:373"}
xref: NANDO:2200978 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118787 {source="DOID:0060248"}
xref: NCIT:C131002 {source="MONDO:equivalentTo"}
xref: NORD:1717 {source="MONDO:NORD"}
xref: Orphanet:373 {source="OMIM:312870", source="DOID:0060248", source="MONDO:equivalentTo"}
xref: SCTID:439143004 {source="DOID:0060248", source="MONDO:equivalentTo"}
xref: UMLS:C4317043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387611"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131002"} ! syndromic disease
is_a: MONDO:0019716 {source="Orphanet:373"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:373", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015216 {source="Orphanet:373", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic diaphragmatic or abdominal wall malformation
relationship: excluded_subClassOf MONDO:0015496 {source="Orphanet:373", source="https://orcid.org/0000-0001-5208-3432"} ! macroglossia
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:373", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: excluded_subClassOf MONDO:0015880 {source="Orphanet:373", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic diaphragmatic or thoracic malformation
relationship: excluded_subClassOf MONDO:0019721 {source="Orphanet:373", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic renal or urinary tract malformation
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:373", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome" xsd:anyURI {source="GARD:0007649"}

[Term]
id: MONDO:0010732
name: spastic paraparesis-deafness syndrome
def: "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." [Orphanet:2815]
subset: gard_rare {source="GARD:5555", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2815"}
subset: ordo_malformation_syndrome {source="Orphanet:2815"}
subset: orphanet_rare {source="Orphanet:2815"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial spastic paraparesis and deafness" RELATED [GARD:0005555]
synonym: "spastic paraparesis - deafness" RELATED [GARD:0005555]
synonym: "spastic paraparesis and deafness" RELATED [OMIM:312910]
synonym: "Wells-Jankovic syndrome" EXACT [Orphanet:2815]
xref: DOID:0081100 {source="MONDO:equivalentTo"}
xref: GARD:5555 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:2815/attributed", source="Orphanet:2815/ntbt", source="Orphanet:2815"}
xref: MEDGEN:419037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536692 {source="MONDO:equivalentTo"}
xref: OMIM:312910 {source="Orphanet:2815/e", source="MONDO:equivalentTo", source="Orphanet:2815"}
xref: Orphanet:2815 {source="MONDO:equivalentTo", source="OMIM:312910"}
xref: SCTID:715504003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419037"}
is_a: MONDO:0003847 {source="MESH:C536692/inferred", source="Orphanet:2815/inferred"} ! hereditary disease

[Term]
id: MONDO:0010733
name: hereditary spastic paraplegia 2
def: "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." [Orphanet:99015]
subset: gard_rare {source="GARD:4923", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99015"}
subset: orphanet_rare {source="Orphanet:99015"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary spastic paraplegia caused by mutation in PLP1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 2" EXACT [DOID:0110773, MONDORULE:1]
synonym: "PLP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic gait type 2" EXACT [Orphanet:99015]
synonym: "spastic paraparesis type 2" EXACT [Orphanet:99015]
synonym: "spastic paraplegia 2" RELATED [GARD:0004923]
synonym: "spastic paraplegia 2, X-linked" RELATED [MONDO:Lexical, OMIM:312920]
synonym: "spastic paraplegia 2, X-linked, X-linked recessive" EXACT [OMIM:312920, OMIM:genemap2]
synonym: "spastic paraplegia type 2" EXACT [DOID:0110773]
synonym: "SPG2" EXACT ABBREVIATION [DOID:0110773, MONDO:Lexical, OMIM:312920, Orphanet:99015]
synonym: "Sppx2" RELATED [OMIM:312920]
synonym: "X-linked spastic paraplegia 2" EXACT [DOID:0110773]
synonym: "X-linked spastic paraplegia type 2" EXACT [Orphanet:99015]
xref: DOID:0110773 {source="MONDO:equivalentTo"}
xref: GARD:4923 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:99015", source="Orphanet:99015/attributed", source="Orphanet:99015/ntbt", source="DOID:0110773"}
xref: MEDGEN:374177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536857 {source="Orphanet:99015", source="Orphanet:99015/e"}
xref: OMIM:312920 {source="Orphanet:99015", source="MONDO:equivalentTo", source="Orphanet:99015/e", source="DOID:0110773"}
xref: Orphanet:99015 {source="MONDO:equivalentTo", source="OMIM:312920", source="DOID:0110773"}
xref: SCTID:723622007 {source="MONDO:equivalentTo"}
xref: UMLS:C1839264 {source="MONDO:equivalentTo", source="MEDGEN:374177", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="Orphanet:99015"} ! leukodystrophy
is_a: MONDO:0019064 {source="DOID:0110773", source="MONDO:Redundant", source="OMIM:312920", source="Orphanet:99015/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9086 ! PLP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9086 {source="MONDO:mim2gene_medgen"} ! PLP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010734
name: spatial visualization, aptitude for
synonym: "spatial visualization, aptitude for" EXACT [OMIM:313000]
synonym: "Turner syndrome-associated Neurocognitive phenotype" RELATED [OMIM:313000]
synonym: "Turner syndrome-associated neurocognitive phenotype, X-linked recessive" EXACT [OMIM:313000, OMIM:genemap2]
synonym: "visuospatial/perceptual abilities" RELATED [OMIM:313000]
synonym: "visuospatial/perceptual abilities, X-linked recessive" EXACT [OMIM:313000, OMIM:genemap2]
xref: MEDGEN:326850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564058 {source="MONDO:equivalentTo"}
xref: OMIM:313000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839262 {source="MEDGEN:326850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564058/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010735
name: Kennedy disease
def: "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." [Orphanet:481]
subset: gard_rare {source="GARD:6818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:481"}
subset: orphanet_rare {source="Orphanet:481"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bulbospinal muscular atrophy, X-linked" RELATED [OMIM:313200]
synonym: "bulbospinal neuronopathy, X-linked recessive" RELATED [OMIM:313200]
synonym: "Kennedy disease" EXACT [DOID:0060161, OMIM:313200]
synonym: "Kennedy spinal and bulbar muscular atrophy" RELATED [OMIM:313200]
synonym: "Kennedy's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "SBMA" EXACT ABBREVIATION [DOID:0060161, Orphanet:481]
synonym: "SMAX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:313200, Orphanet:481]
synonym: "spinal and bulbar muscular atrophy" RELATED [OMIM:313200]
synonym: "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive" EXACT [OMIM:313200, OMIM:genemap2]
synonym: "spinal and bulbar muscular atrophy, X-linked 1" RELATED [MONDO:Lexical, OMIM:313200]
synonym: "spinal and bulbar muscular atrophy, X-linked type 1" EXACT [MONDORULE:1, OMIM:313200]
synonym: "spinal bulbar muscular atrophy" EXACT [DOID:0060161]
synonym: "spinobulbar muscular atrophy" EXACT [DOID:0060161]
synonym: "X-linked BSMA" EXACT [Orphanet:481]
synonym: "X-linked bulbo-spinal atrophy" EXACT [DOID:0060161]
synonym: "X-linked bulbospinal amyotrophy" EXACT [Orphanet:481]
synonym: "X-linked bulbospinal muscular atrophy" EXACT [Orphanet:481]
synonym: "X-linked spinal and bulbar muscular atrophy" EXACT [DOID:0060161, Orphanet:481]
xref: DOID:0060161 {source="MONDO:equivalentTo"}
xref: GARD:6818 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:481", source="Orphanet:481/attributed", source="Orphanet:481/ntbt"}
xref: MedDRA:10068600 {source="Orphanet:481", source="Orphanet:481/e"}
xref: MEDGEN:333282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055534 {source="MONDO:equivalentTo", source="DOID:0060161"}
xref: NANDO:1200001 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85233 {source="MONDO:equivalentTo", source="DOID:0060161"}
xref: OMIM:313200 {source="MONDO:equivalentTo", source="Orphanet:481", source="DOID:0060161", source="Orphanet:481/e"}
xref: Orphanet:481 {source="OMIM:313200", source="MONDO:equivalentTo"}
xref: SCTID:230253001 {source="DOID:0060161"}
xref: UMLS:C1839259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333282"}
is_a: MONDO:0024237 {source="Orphanet:481", source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: disease_has_feature HP:0003560 ! Muscular dystrophy
relationship: excluded_subClassOf MONDO:0001516 {source="DOID:0060161", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! spinal muscular atrophy
relationship: excluded_subClassOf MONDO:0005372 {source="MONDO:0018388-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! male infertility
relationship: excluded_subClassOf MONDO:0016115 {source="Orphanet:481", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete bulbospinal muscular atrophy of adulthood
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010736
name: split hand-foot malformation 2
def: "A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26." [DOID:0090027, PMID:15617554]
subset: gard_rare {source="GARD:15308", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SHFD2" RELATED ABBREVIATION [GARD:0004968]
synonym: "SHFM2" EXACT ABBREVIATION [DOID:0090027, GARD:0004968, MONDO:Lexical, OMIM:313350]
synonym: "SHSF2" RELATED ABBREVIATION [GARD:0004968, OMIM:313350]
synonym: "split hand foot anomaly - X-linked" RELATED [GARD:0004968]
synonym: "split hand foot deformity 2" RELATED [GARD:0004968]
synonym: "split hand-foot malformation type 2" EXACT [DOID:0090027, MONDORULE:1]
synonym: "split hand/foot malformation 2" EXACT [OMIM:313350, OMIM:genemap2]
synonym: "split hand/foot malformation X-linked" RELATED [GARD:0004968]
synonym: "split-hand/foot deformity 2" RELATED [OMIM:313350]
synonym: "split-hand/foot malformation 2" RELATED [MONDO:Lexical, OMIM:313350]
synonym: "split-hand/split-foot anomaly, X-linked" RELATED [OMIM:313350]
xref: DOID:0090027 {source="MONDO:equivalentTo"}
xref: GARD:15308 {source="MONDO:GARD"}
xref: ICD10CM:Q71.6 {source="DOID:0090027"}
xref: MEDGEN:326848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564056 {source="MONDO:equivalentTo"}
xref: OMIM:313350 {source="MONDO:equivalentTo", source="DOID:0090027", source="GARD:0004968"}
xref: Orphanet:2440 {source="OMIM:313350", source="DOID:0090027"}
xref: UMLS:C1839258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326848"}
is_a: MONDO:0016576 {source="DOID:0090027", source="OMIM:313350"} ! split hand-foot malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010737
name: spondyloepiphyseal dysplasia tarda, X-linked
def: "X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern." [https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked]
subset: gard_rare {source="GARD:4985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SED" RELATED ABBREVIATION [GARD:0004985]
synonym: "Sed tarda, X-linked" RELATED [OMIM:313400]
synonym: "SEDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313400]
synonym: "spondyloepiphyseal dysplasia tarda X-linked" RELATED [GARD:0004985]
synonym: "spondyloepiphyseal dysplasia tarda, X-linked" EXACT [MONDO:Lexical, OMIM:313400]
synonym: "spondyloepiphyseal dysplasia tarda, X-linked recessive" EXACT [OMIM:313400, OMIM:genemap2]
synonym: "spondyloepiphyseal dysplasia, late" RELATED [OMIM:313400]
synonym: "X linked spondyloepiphyseal dysplasia tarda" RELATED [GARD:0004985]
synonym: "X-linked spondyloepiphyseal dysplasia" RELATED [GARD:0004985]
xref: DOID:0080362 {source="MONDO:equivalentTo"}
xref: GARD:4985 {source="MONDO:GARD"}
xref: MEDGEN:762085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:313400 {source="MONDO:equivalentTo"}
xref: Orphanet:93284 {source="OMIM:313400"}
xref: UMLS:C3541456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762085"}
is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0019667 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia tarda
intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23068 {source="MONDO:mim2gene_medgen"} ! TRAPPC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked" xsd:anyURI {source="GARD:0004985"}

[Term]
id: MONDO:0010738
name: spondylometaphyseal dysplasia, Golden type
def: "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base." [Orphanet:168544]
subset: gard_rare {source="GARD:8343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168544"}
subset: orphanet_rare {source="Orphanet:168544"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spondylometaphyseal dysplasia Richmond type" RELATED [GARD:0008343]
synonym: "spondylometaphyseal dysplasia X-linked" RELATED [GARD:0008343]
synonym: "spondylometaphyseal dysplasia, Richmond type" RELATED [OMIM:313420]
synonym: "spondylometaphyseal dysplasia, X-linked" RELATED [OMIM:313420]
synonym: "X-linked spondylometaphyseal dysplasia" EXACT [Orphanet:168544]
xref: GARD:8343 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:168544/attributed", source="Orphanet:168544/ntbt", source="Orphanet:168544"}
xref: MEDGEN:208672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563124 {source="MONDO:equivalentTo"}
xref: OMIM:313420 {source="Orphanet:168544", source="MONDO:equivalentTo", source="Orphanet:168544/e"}
xref: Orphanet:168544 {source="OMIM:313420", source="MONDO:equivalentTo"}
xref: UMLS:C0796172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208672"}
is_a: MONDO:0016763 {source="DC-OMIM:313420", source="Orphanet:168544"} ! spondylometaphyseal dysplasia

[Term]
id: MONDO:0010739
name: Taqi polymorphism
synonym: "TAQ1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313480]
synonym: "TaqI polymorphism" RELATED [OMIM:313480]
synonym: "Taqi polymorphism" EXACT [MONDO:Lexical, OMIM:313480]
xref: MEDGEN:374172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:313480 {source="MONDO:equivalentTo"}
xref: UMLS:C1839238 {source="MEDGEN:374172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010740
name: taurodontism, microdontia, and dens invaginatus
synonym: "taurodontism, microdontia, and dens invaginatus" EXACT [OMIM:313490]
xref: MEDGEN:374171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536947 {source="MONDO:equivalentTo"}
xref: OMIM:313490 {source="MONDO:equivalentTo"}
xref: UMLS:C1839235 {source="MEDGEN:374171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10068/taurodontism-microdontia-and-dens-invaginatus" xsd:anyURI {source="GARD:0010068"}

[Term]
id: MONDO:0010741
name: tooth agenesis, selective, X-linked, 1
def: "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18246", source="MONDO:GARD"}
subset: rare
synonym: "EDA tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypodontia/oligodontia, X-linked, 1" RELATED [OMIM:313500]
synonym: "STHAGX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313500]
synonym: "tooth agenesis caused by mutation in EDA" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, X-linked 1, X-linked dominant" EXACT [OMIM:313500, OMIM:genemap2]
synonym: "tooth agenesis, selective, X-linked, 1" EXACT [MONDO:Lexical, OMIM:313500]
synonym: "tooth agenesis, selective, X-linked, type 1" EXACT [MONDORULE:1, OMIM:313500]
xref: GARD:18246 {source="MONDO:GARD"}
xref: MEDGEN:410143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567060 {source="MONDO:equivalentTo"}
xref: OMIM:313500 {source="MONDO:equivalentTo"}
xref: Orphanet:2227 {source="OMIM:313500"}
xref: Orphanet:99798 {source="OMIM:313500"}
xref: UMLS:C1970757 {source="MEDGEN:410143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C567060/inferred"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:313500", source="MONDO:Redundant", source="OMIM:313500"} ! tooth agenesis
intersection_of: MONDO:0005486 ! tooth agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3157 ! EDA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3157 {source="MONDO:mim2gene_medgen"} ! EDA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010742
name: pentalogy of Cantrell
def: "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." [Orphanet:1335]
subset: gard_rare {source="GARD:7359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1566"}
subset: ordo_disorder {source="Orphanet:1335"}
subset: ordo_malformation_syndrome {source="Orphanet:1335"}
subset: orphanet_rare {source="Orphanet:1335"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cantrell deformity" EXACT [Orphanet:1335]
synonym: "Cantrell Haller Ravitsch syndrome" RELATED [GARD:0007359]
synonym: "Cantrell pentalogy" RELATED [GARD:0007359]
synonym: "Cantrell syndrome" EXACT [Orphanet:1335]
synonym: "Midline defects, X-linked" RELATED [OMIM:313850]
synonym: "pentalogy of Cantrell" EXACT [OMIM:313850]
synonym: "Tas" RELATED [OMIM:313850]
synonym: "THAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313850]
synonym: "thoraco-abdominal syndrome" EXACT [Orphanet:1335]
synonym: "thoracoabdominal syndrome" RELATED [MONDO:Lexical, OMIM:313850]
xref: GARD:7359 {source="MONDO:GARD"}
xref: ICD10CM:Q89.7 {source="Orphanet:1335", source="Orphanet:1335/attributed", source="Orphanet:1335/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:107540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058502 {source="MONDO:equivalentTo", source="Orphanet:1335", source="Orphanet:1335/e"}
xref: NCIT:C99011 {source="MONDO:equivalentTo"}
xref: NORD:1566 {source="MONDO:NORD"}
xref: OMIM:313850 {source="MONDO:equivalentTo", source="Orphanet:1335", source="Orphanet:1335/e"}
xref: Orphanet:1335 {source="OMIM:313850", source="MONDO:equivalentTo"}
xref: SCTID:281587000 {source="MONDO:equivalentTo"}
xref: UMLS:C0559483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107540"}
is_a: MONDO:0015161 {source="Orphanet:1335"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1335", source="Orphanet:1335/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell" xsd:anyURI {source="GARD:0007359"}

[Term]
id: MONDO:0010743
name: thrombocytopenia 1
subset: gard_rare {source="GARD:5176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:852"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:852"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "THC" RELATED ABBREVIATION [OMIM:313900]
synonym: "THC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313900]
synonym: "thrombocytopenia 1" EXACT [MONDO:Lexical, OMIM:313900]
synonym: "thrombocytopenia type 1" EXACT [MONDORULE:1, OMIM:313900]
synonym: "thrombocytopenia, X-linked" RELATED [OMIM:313900]
synonym: "thrombocytopenia, X-linked, 1" RELATED [OMIM:313900]
synonym: "thrombocytopenia, X-linked, intermittent" RELATED [OMIM:313900]
synonym: "thrombocytopenia, X-linked, intermittent, X-linked recessive" EXACT [OMIM:313900, OMIM:genemap2]
synonym: "thrombocytopenia, X-linked, X-linked recessive" EXACT [OMIM:313900, OMIM:genemap2]
synonym: "X-linked thrombocytopenia" RELATED [GARD:0005176]
synonym: "X-linked thrombocytopenia with normal platelets" EXACT [Orphanet:852]
synonym: "XLT" RELATED ABBREVIATION [GARD:0005176]
xref: GARD:5176 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="Orphanet:852", source="Orphanet:852/attributed", source="Orphanet:852/ntbt"}
xref: MEDGEN:326416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564052 {source="MONDO:equivalentTo"}
xref: NCIT:C176617 {source="MONDO:equivalentTo"}
xref: OMIM:313900 {source="Orphanet:852", source="MONDO:equivalentTo", source="Orphanet:852/e"}
xref: Orphanet:268322 {source="OMIM:313900"}
xref: Orphanet:852 {source="MONDO:equivalentTo", source="OMIM:313900"}
xref: UMLS:C1839163 {source="MEDGEN:326416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100241 {source="DC-OMIM:313900", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia
intersection_of: MONDO:0100241 ! inherited thrombocytopenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 ! WAS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 {source="MONDO:mim2gene_medgen"} ! WAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010744
name: thrombocytopenia with elevated serum IgA and renal disease
synonym: "thrombocytopenia with elevated serum IgA and renal disease" EXACT [OMIM:314000]
xref: MEDGEN:374149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564051 {source="MONDO:equivalentTo"}
xref: OMIM:314000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374149"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010745
name: beta-thalassemia-X-linked thrombocytopenia syndrome
def: "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." [Orphanet:231393]
subset: gard_rare {source="GARD:17166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231393"}
subset: orphanet_rare {source="Orphanet:231393"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thrombocytopenia with BETA-thalassemia, X-linked" RELATED [MONDO:Lexical, OMIM:314050]
synonym: "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive" EXACT [OMIM:314050, OMIM:genemap2]
synonym: "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis" RELATED [OMIM:314050]
synonym: "X-linked thrombocytopenia with Beta-thalassemia" EXACT [NCIT:C134941]
synonym: "XLTT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314050, Orphanet:231393]
xref: DOID:0111767 {source="MONDO:equivalentTo"}
xref: GARD:17166 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="Orphanet:231393/attributed", source="Orphanet:231393/ntbt", source="Orphanet:231393"}
xref: MEDGEN:326415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564050 {source="MONDO:equivalentTo"}
xref: NCIT:C134941 {source="MONDO:equivalentTo"}
xref: OMIM:314050 {source="Orphanet:231393/e", source="MONDO:equivalentTo", source="Orphanet:231393"}
xref: Orphanet:231393 {source="MONDO:equivalentTo", source="OMIM:314050"}
xref: SCTID:718196002 {source="MONDO:equivalentTo"}
xref: UMLS:C1839161 {source="MONDO:equivalentTo", source="MEDGEN:326415", source="MONDO:MEDGEN"}
is_a: MONDO:0017145 ! beta-thalassemia and related diseases
is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4170 {source="MONDO:mim2gene_medgen"} ! GATA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010746
name: thumbs, congenital Clasped
synonym: "adducted thumbs syndrome" RELATED [OMIM:314100]
synonym: "Clasped thumbs, congenital" RELATED [GARD:0010277]
synonym: "thumbs, congenital Clasped" EXACT [OMIM:314100]
xref: MEDGEN:98140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:314100 {source="MONDO:equivalentTo"}
xref: UMLS:C0431886 {source="MEDGEN:98140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0010747
name: X-linked dystonia-parkinsonism
def: "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." [Orphanet:53351]
subset: gard_rare {source="GARD:10533", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53351"}
subset: orphanet_rare {source="Orphanet:53351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 3, torsion, X-linked" RELATED [MONDO:Lexical, OMIM:314250]
synonym: "dystonia-Parkinsonism, X-linked" RELATED [OMIM:314250]
synonym: "dystonia-Parkinsonism, X-linked, X-linked recessive" EXACT [OMIM:314250, OMIM:genemap2]
synonym: "DYT-TAF1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314250, Orphanet:53351]
synonym: "Lubag" EXACT [Orphanet:53351]
synonym: "Lubag syndrome" EXACT [Orphanet:53351]
synonym: "torsion dystonia-Parkinsonism, Filipino type" RELATED [OMIM:314250]
synonym: "X-linked dystonia Parkinsonism" EXACT [NCIT:C126330]
synonym: "X-linked dystonia-Parkinsonism syndrome" RELATED [GARD:0010533]
synonym: "X-linked dystonia-parkinsonism/Lubag" RELATED [GARD:0010533]
synonym: "X-linked torsion dystonia-Parkinsonism syndrome" RELATED [GARD:0010533]
synonym: "XDP" EXACT ABBREVIATION [Orphanet:53351]
xref: DOID:0090057 {source="MONDO:equivalentTo"}
xref: GARD:10533 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="DOID:0090057", source="Orphanet:53351/attributed", source="Orphanet:53351/ntbt", source="Orphanet:53351"}
xref: MEDGEN:326820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564048 {source="MONDO:equivalentTo"}
xref: NANDO:1200514 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126330 {source="MONDO:equivalentTo"}
xref: OMIM:314250 {source="Orphanet:53351/e", source="MONDO:equivalentTo", source="DOID:0090057", source="Orphanet:53351"}
xref: Orphanet:53351 {source="MONDO:equivalentTo", source="DOID:0090057", source="OMIM:314250"}
xref: SCTID:698279003 {source="MONDO:equivalentTo"}
xref: UMLS:C1839130 {source="MEDGEN:326820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000477 {source="DOID:0090057"} ! focal dystonia
is_a: MONDO:0005395 {source="DOID:0090057/inferred", source="MESH:C564048/inferred", source="MONDO:Redundant", source="NCIT:C126330", source="Orphanet:53351/inferred"} ! movement disorder
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
is_a: MONDO:0044807 {source="DOID:0090057/inferred", source="MESH:C564048", source="MONDO:Redundant", source="OMIM:314250"} ! inherited dystonia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11535 {source="MONDO:mim2gene_medgen"} ! TAF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0010748
name: torticollis-keloids-cryptorchidism-renal dysplasia syndrome
def: "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." [Orphanet:3341]
subset: gard_rare {source="GARD:5230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3341"}
subset: ordo_malformation_syndrome {source="Orphanet:3341"}
subset: orphanet_rare {source="Orphanet:3341"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Goeminne syndrome" RELATED [OMIM:314300]
synonym: "Goeminne TKCR syndrome" EXACT [OMIM:314300, OMIM:genemap2]
synonym: "Tkc" RELATED [OMIM:314300]
synonym: "TKCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314300]
synonym: "Tkcr syndrome" RELATED [OMIM:314300]
synonym: "torticollis keloids cryptorchidism renal dysplasia" RELATED [GARD:0005230]
synonym: "torticollis, keloids, cryptorchidism, and renal dysplasia" RELATED [MONDO:Lexical, OMIM:314300]
xref: GARD:5230 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3341/attributed", source="Orphanet:3341/ntbt", source="Orphanet:3341"}
xref: MEDGEN:326819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536970 {source="Orphanet:3341/e", source="MONDO:equivalentTo", source="Orphanet:3341"}
xref: OMIM:314300 {source="Orphanet:3341/e", source="MONDO:equivalentTo", source="Orphanet:3341"}
xref: Orphanet:3341 {source="OMIM:314300", source="MONDO:equivalentTo"}
xref: UMLS:C1839129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326819"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010749
name: trigonocephaly-short stature-developmental delay syndrome
def: "A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." [Orphanet:3369]
subset: gard_rare {source="GARD:243", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3369"}
subset: ordo_malformation_syndrome {source="Orphanet:3369"}
subset: orphanet_rare {source="Orphanet:3369"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Say Meyer syndrome" RELATED [GARD:0000243]
synonym: "Say-Meyer syndrome" EXACT [Orphanet:3369]
synonym: "trigonocephaly with short stature and developmental delay" RELATED [OMIM:314320]
synonym: "trigonocephaly, short stature and developmental delay" RELATED [GARD:0000243]
synonym: "trigonocephaly, short stature, and retarded psychomotor development" RELATED [GARD:0000243]
xref: GARD:243 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3369/attributed", source="Orphanet:3369/ntbt", source="Orphanet:3369"}
xref: MEDGEN:374138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536620 {source="MONDO:equivalentTo"}
xref: OMIM:314320 {source="Orphanet:3369", source="MONDO:equivalentTo", source="Orphanet:3369/e"}
xref: Orphanet:3369 {source="OMIM:314320", source="MONDO:equivalentTo"}
xref: SCTID:733066002 {source="MONDO:equivalentTo"}
xref: UMLS:C1839125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374138"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:3369", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015338 {source="Orphanet:3369", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic craniosynostosis
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:3369", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0010750
name: ulnar hypoplasia-split foot syndrome
def: "Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." [Orphanet:1122]
subset: gard_rare {source="GARD:5400", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1122"}
subset: ordo_malformation_syndrome {source="Orphanet:1122"}
subset: orphanet_rare {source="Orphanet:1122"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet" RELATED [GARD:0005400]
synonym: "familial ulnar aplasia and lobster claw syndrome" RELATED [GARD:0005400]
synonym: "severe ulnar aplasia and lobster claw feet" RELATED [GARD:0005400]
synonym: "ulnar hypoplasia lobster claw deformity of feet" RELATED [GARD:0005400]
synonym: "ulnar hypoplasia with lobster-claw deformity of feet" RELATED [OMIM:314360]
synonym: "ulnar hypoplasia-lobster-claw deformity of feet syndrome" EXACT [Orphanet:1122]
synonym: "Van De Berghe Dequeker syndrome" RELATED [GARD:0005400]
synonym: "Van den Berghe-Dequecker syndrome" EXACT [Orphanet:1122]
xref: GARD:5400 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:1122/attributed", source="Orphanet:1122/ntbt", source="Orphanet:1122"}
xref: MEDGEN:333256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536936 {source="Orphanet:1122", source="MONDO:equivalentTo", source="Orphanet:1122/e"}
xref: OMIM:314360 {source="Orphanet:1122", source="MONDO:equivalentTo", source="Orphanet:1122/e"}
xref: Orphanet:1122 {source="MONDO:equivalentTo", source="OMIM:314360"}
xref: UMLS:C1839123 {source="MEDGEN:333256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010751
name: unique green phenomenon
synonym: "unique green phenomenon" EXACT [OMIM:314380]
xref: MEDGEN:326816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:314380 {source="MONDO:equivalentTo"}
xref: UMLS:C1839116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326816"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010752
name: VACTERL association, X-linked, with or without hydrocephalus
subset: gard_rare {source="GARD:15309", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "VACTERL association with hydrocephaly, X-linked" RELATED [GARD:0008498]
synonym: "VACTERL association, X-linked, with or without hydrocephalus" EXACT [MONDO:Lexical, OMIM:314390]
synonym: "VACTERL association, X-linked, X-linked recessive" EXACT [OMIM:314390, OMIM:genemap2]
synonym: "VACTERL-H, X-linked" RELATED [OMIM:314390]
synonym: "VACTERLX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314390]
synonym: "X-linked VACTERL-H syndrome" RELATED [GARD:0008498]
xref: DOID:0111766 {source="MONDO:equivalentTo"}
xref: GARD:15309 {source="MONDO:GARD"}
xref: MEDGEN:419019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:314390 {source="MONDO:equivalentTo"}
xref: Orphanet:3412 {source="OMIM:314390"}
xref: UMLS:C2931228 {source="MEDGEN:419019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008642 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! VACTERL/vater association
is_a: MONDO:0010172 {source="Orphanet:3412/btnt"} ! VACTERL with hydrocephalus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010753
name: cardiac valvular dysplasia, X-linked
subset: gard_rare {source="GARD:1096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:555877"}
subset: ordo_morphological_anomaly {source="Orphanet:1864"}
subset: orphanet_rare {source="Orphanet:555877"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiac valvular dysplasia, X-linked" EXACT [MONDO:Lexical, OMIM:314400]
synonym: "congenital valvular dysplasia" EXACT [MONDO:0015989]
synonym: "CVD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314400]
synonym: "myxomatous valvular dystrophy, X-linked" EXACT [OMIM:314400]
synonym: "valvular heart disease, congenital" EXACT [OMIM:314400]
synonym: "XMVD" EXACT ABBREVIATION [GARD:0001096]
xref: DOID:0111765 {source="MONDO:equivalentTo"}
xref: GARD:1096 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:1864", source="Orphanet:1864/attributed", source="Orphanet:1864/ntbt"}
xref: MEDGEN:78083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535576 {source="MONDO:equivalentTo"}
xref: OMIM:314400 {source="MONDO:equivalentTo", source="Orphanet:1864", source="Orphanet:1864/btnt"}
xref: Orphanet:1864 {source="MONDO:equivalentObsolete", source="OMIM:314400"}
xref: Orphanet:555877 {source="MONDO:equivalentTo"}
xref: SCTID:718128009 {source="MONDO:equivalentTo"}
xref: UMLS:C0262436 {source="MEDGEN:78083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020289 {source="Orphanet:1864"} ! congenital tricuspid malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked" xsd:anyURI {source="GARD:0001096"}

[Term]
id: MONDO:0010754
name: van den Bosch syndrome
def: "A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion." [Orphanet:3417]
subset: gard_rare {source="GARD:5453", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3417"}
subset: ordo_malformation_syndrome {source="Orphanet:3417"}
subset: orphanet_rare {source="Orphanet:3417"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity" RELATED [GARD:0005453]
synonym: "van den Bosch syndrome" EXACT [OMIM:314500]
xref: GARD:5453 {source="MONDO:GARD"}
xref: MEDGEN:162920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563129 {source="MONDO:equivalentTo"}
xref: OMIM:314500 {source="MONDO:equivalentTo", source="Orphanet:3417", source="Orphanet:3417/e"}
xref: Orphanet:3417 {source="MONDO:equivalentTo", source="OMIM:314500"}
xref: SCTID:733110004 {source="MONDO:equivalentTo"}
xref: UMLS:C0796192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162920"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0019271 {source="Orphanet:3417", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acrokeratoderma
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:3417", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome" xsd:anyURI {source="GARD:0005453"}

[Term]
id: MONDO:0010755
name: vesicoureteral reflux, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "vesicoureteral reflux, X-linked" EXACT [MONDO:Lexical, OMIM:314550]
synonym: "VURX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314550]
xref: MEDGEN:374134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564042 {source="MONDO:equivalentTo"}
xref: OMIM:314550 {source="MONDO:equivalentTo"}
xref: UMLS:C1839114 {source="MEDGEN:374134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564042/inferred", source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0017329 {source="DC-OMIM:314550", source="MESH:C564042", source="MONDO:Redundant"} ! familial vesicoureteral reflux

[Term]
id: MONDO:0010756
name: Von Willebrand disease, X-linked form
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Von Willebrand disease, X-linked" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "Von Willebrand disease, X-linked form" EXACT [OMIM:314560]
xref: MEDGEN:333255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564041 {source="MONDO:equivalentTo"}
xref: OMIM:314560 {source="MONDO:equivalentTo"}
xref: Orphanet:903 {source="OMIM:314560"}
xref: UMLS:C1839113 {source="MEDGEN:333255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019565 {source="DC-OMIM:314560", source="MESH:C564041"} ! hereditary von Willebrand disease

[Term]
id: MONDO:0010757
name: widow's peak syndrome
synonym: "widow's peak syndrome" EXACT [OMIM:314570]
synonym: "widow's peak, ptosis, and skeletal anomalies" RELATED [OMIM:314570]
xref: MEDGEN:374133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564040 {source="MONDO:equivalentTo"}
xref: OMIM:314570 {source="MONDO:equivalentTo"}
xref: UMLS:C1839112 {source="MONDO:equivalentTo", source="MEDGEN:374133", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010758
name: Wieacker-Wolff syndrome
def: "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." [Orphanet:3454]
subset: gard_rare {source="GARD:7890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:91159"}
subset: ordo_disorder {source="Orphanet:3454", source="Orphanet:85283"}
subset: ordo_malformation_syndrome {source="Orphanet:3454", source="Orphanet:85283"}
subset: orphanet_rare {source="Orphanet:3454", source="Orphanet:85283"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "apraxia, oculomotor, with congenital contractures and muscle atrophy" EXACT [OMIM:314580]
synonym: "contractures of feet, muscle atrophy, and oculomotor apraxia" EXACT [OMIM:314580]
synonym: "foot contractures-muscle atrophy-oculomotor apraxia syndrome" EXACT [Orphanet:3454]
synonym: "intellectual disability-developmental delay-contractures syndrome" EXACT [Orphanet:3454]
synonym: "MCS" EXACT DEPRECATED [DOID:0060815, MONDO:Lexical, OMIM:309605]
synonym: "mental retardation, X-linked, syndromic 4" EXACT DEPRECATED [DOID:0060815, OMIM:309605]
synonym: "mental retardation, X-linked, with congenital contractures and Low fingertip arches" EXACT DEPRECATED [OMIM:309605]
synonym: "mental retardation, X-linked, with congenital contractures and low fingertip arches" EXACT DEPRECATED [DOID:0060815]
synonym: "Miles-Carpenter syndrome" EXACT [MONDO:0010666]
synonym: "Miles-CARPENTER X-linked mental retardation syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:309605]
synonym: "MRXS4" EXACT ABBREVIATION [DOID:0060815]
synonym: "Wieacker syndrome" EXACT [OMIM:314580]
synonym: "Wieacker Wolff syndrome" EXACT [GARD:0007890]
synonym: "Wieacker-Wolff syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:314580, Orphanet:3454]
synonym: "Wieacker-Wolff syndrome, X-linked" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Wieacker-Wolff syndrome, X-linked recessive" EXACT [OMIM:314580, OMIM:genemap2]
synonym: "WRWF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314580]
synonym: "WRWFXLR" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [DOID:0060815]
synonym: "ZC4H2-Associated Rare Disorders (ZARD)" EXACT [NORD:91159]
xref: DOID:0060815 {source="MONDO:equivalentTo"}
xref: GARD:7890 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:3454/attributed", source="Orphanet:3454/ntbt", source="Orphanet:3454"}
xref: ICD10CM:Q87.8 {source="Orphanet:85283/attributed", source="Orphanet:85283/ntbt", source="DOID:0060815", source="Orphanet:85283"}
xref: MEDGEN:163227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536703 {source="Orphanet:3454", source="MONDO:equivalentTo", source="Orphanet:3454/e"}
xref: MESH:C537472 {source="Orphanet:85283/e", source="MONDO:equivalentObsolete", source="DOID:0060815", source="Orphanet:85283"}
xref: NORD:91159 {source="MONDO:NORD"}
xref: OMIM:314580 {source="Orphanet:3454", source="MONDO:equivalentTo", source="Orphanet:3454/e", source="Orphanet:85283"}
xref: Orphanet:3454 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:314580"}
xref: Orphanet:85283 {source="MONDO:equivalentTo", source="OMIM:309605", source="DOID:0060815"}
xref: SCTID:719012009 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:722456001 {source="MONDO:equivalentTo"}
xref: UMLS:C0796200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163227"}
is_a: MONDO:0025445 ! Wieacker-Wolff syndrome (spectrum)
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85283", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015168 {source="Orphanet:3454", source="https://orcid.org/0000-0001-5208-3432"} ! arthrogryposis multiplex congenita
relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309605", source="DOID:0060815", source="Orphanet:85283", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020120 {source="Orphanet:3454", source="Orphanet:3454/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal muscle disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010759
name: Wildervanck syndrome
def: "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness." [Orphanet:3456]
subset: gard_rare {source="GARD:5569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1853"}
subset: ordo_disorder {source="Orphanet:3456"}
subset: ordo_malformation_syndrome {source="Orphanet:3456"}
subset: orphanet_rare {source="Orphanet:3456"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervico-oculo-acoustic dysplasia" RELATED [GARD:0005569]
synonym: "cervico-oculo-acoustic syndrome" RELATED [GARD:0005569]
synonym: "Cervicooculoacoustic syndrome" EXACT [OMIM:314600, Orphanet:3456]
synonym: "COA syndrome" RELATED [GARD:0005569]
synonym: "Wildervanck syndrome" EXACT [OMIM:314600]
xref: GARD:5569 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3456/attributed", source="Orphanet:3456/ntbt", source="Orphanet:3456"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069402 {source="Orphanet:3456", source="Orphanet:3456/e"}
xref: MEDGEN:120518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536706 {source="Orphanet:3456", source="Orphanet:3456/e"}
xref: NORD:1853 {source="MONDO:NORD"}
xref: OMIM:314600 {source="Orphanet:3456", source="MONDO:equivalentTo", source="Orphanet:3456/e"}
xref: Orphanet:3456 {source="MONDO:equivalentTo", source="OMIM:314600"}
xref: SCTID:79665007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265239 {source="MEDGEN:120518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001029 {source="PMID:10323018", source="https://orcid.org/0009-0001-6494-4831"} ! Klippel-Feil syndrome
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome" xsd:anyURI {source="GARD:0005569"}

[Term]
id: MONDO:0010760
name: XH antigen
synonym: "XH antigen" EXACT [OMIM:314800]
xref: MEDGEN:854528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C009691 {source="MONDO:equivalentTo"}
xref: OMIM:314800 {source="MONDO:equivalentTo"}
xref: UMLS:C3887689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854528"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010761
name: retinitis pigmentosa Y-linked
def: "Y-linked form of retinitis pigmentosa." [MONDO:patterns/y_linked]
subset: gard_rare {source="GARD:15310", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa, Y-linked" EXACT [MONDO:Lexical, MONDO:patterns/y_linked, OMIM:400004]
synonym: "retinitis pigmentosa, y-linked, y-linked" EXACT [OMIM:400004, OMIM:genemap2]
synonym: "RPY" EXACT ABBREVIATION [DOID:0110418, MONDO:Lexical, OMIM:400004]
synonym: "Y-linked retinitis pigmentosa" EXACT [MONDO:design_pattern]
xref: DOID:0110418 {source="MONDO:equivalentTo"}
xref: GARD:15310 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110418"}
xref: MEDGEN:326805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564035 {source="MONDO:equivalentTo"}
xref: OMIM:400004 {source="MONDO:equivalentTo", source="DOID:0110418"}
xref: Orphanet:791 {source="OMIM:400004"}
xref: UMLS:C1839079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326805"}
is_a: MONDO:0019200 {source="DC-OMIM:400004", source="DOID:0110418", source="MESH:C564035", source="MONDO:Redundant", source="OMIM:400004"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_characteristic HP:0001450 ! Y-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010762
name: lymphoma, Hodgkin, Y-linked pseudoautosomal
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Hodgkin disease, Y-linked Pseudoautosomal" RELATED [OMIM:400021]
synonym: "lymphoma, Hodgkin, Y-linked pseudoautosomal" EXACT [OMIM:400021]
xref: MEDGEN:333246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564034 {source="MONDO:equivalentTo"}
xref: OMIM:400021 {source="MONDO:equivalentTo"}
xref: Orphanet:391 {source="OMIM:400021"}
xref: UMLS:C1839076 {source="MONDO:equivalentTo", source="MEDGEN:333246", source="MONDO:MEDGEN"}
is_a: MONDO:0004952 {source="MESH:C564034"} ! Hodgkins lymphoma

[Term]
id: MONDO:0010763
name: spermatogenic failure, Y-linked, 1
subset: gard_rare {source="GARD:18503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypospermatogenesis" RELATED [OMIM:400042]
synonym: "incomplete Sertoli cell-only syndrome" RELATED [OMIM:400042]
synonym: "Sertoli cell-only syndrome, type 1" RELATED [OMIM:400042]
synonym: "Sertoli cell-only syndrome, type 2" RELATED [OMIM:400042]
synonym: "Sertoli cell-only syndrome, Y-linked" RELATED [OMIM:400042]
synonym: "spermatogenic failure, Y-linked, 1" EXACT [MONDO:Lexical, OMIM:400042]
synonym: "spermatogenic failure, Y-linked, 1, Y-linked" EXACT [OMIM:400042, OMIM:genemap2]
synonym: "spermatogenic failure, Y-linked, type 1" EXACT [MONDORULE:1, OMIM:400042]
synonym: "SPGFY1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:400042]
xref: DOID:0070186 {source="MONDO:equivalentTo"}
xref: GARD:18503 {source="MONDO:GARD"}
xref: MEDGEN:1634798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:400042 {source="MONDO:equivalentTo"}
xref: Orphanet:1646 {source="OMIM:400042"}
xref: UMLS:C4551960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634798"}
is_a: MONDO:0004983 {source="MONDO:Redundant", source="OMIM:400042"} ! spermatogenic failure
is_a: MONDO:0010595 ! Sertoli cell-only syndrome
is_a: MONDO:0015607 {source="Orphanet:1646/btnt"} ! partial chromosome Y deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010764
name: hearing loss, Y-linked 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, Y-linked 1" NARROW [MONDO:Lexical, OMIM:400043]
synonym: "deafness, y-linked 1, y-linked" NARROW [OMIM:400043, OMIM:genemap2]
synonym: "DFNY1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:400043]
xref: DOID:0111759 {source="MONDO:equivalentTo"}
xref: MEDGEN:854748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:400043 {source="MONDO:equivalentTo"}
xref: UMLS:C3888076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854748"}
is_a: MONDO:0019497 ! nonsyndromic genetic hearing loss
is_a: MONDO:0033304 ! nonsyndromic deafness, Y-linked
relationship: has_characteristic HP:0001450 ! Y-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010765
name: 46,XY complete gonadal dysgenesis
def: "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." [Orphanet:242]
subset: gard_rare {source="GARD:5068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1750"}
subset: ordo_disorder {source="Orphanet:242"}
subset: ordo_malformation_syndrome {source="Orphanet:242"}
subset: orphanet_rare {source="Orphanet:242"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "46 XY gonadal dysgenesis" EXACT [MONDO:0001968]
synonym: "46, XY CGD" EXACT [GARD:0005068]
synonym: "46, XY complete gonadal dysgenesis" EXACT [GARD:0005068]
synonym: "46, XY pure gonadal dysgenesis" EXACT [GARD:0005068]
synonym: "46,XY CGD" EXACT [Orphanet:242]
synonym: "46,XY gonadal dysgenesis" EXACT [NCIT:C120198]
synonym: "46,XY pure gonadal dysgenesis" EXACT [Orphanet:242]
synonym: "46,XY SEX reversal" EXACT [DOID:14448]
synonym: "gonadal dysgenesis, XY female type" RELATED [GARD:0005068]
synonym: "pure gonadal dysgenesis 46,XY" EXACT [DOID:14448]
synonym: "sex-reversing locus on X" RELATED [OMIM:400044]
synonym: "sex-reversing locus on X, formerly" RELATED [OMIM:400044]
synonym: "Swyer syndrome" EXACT [DOID:14448, NORD:1750, Orphanet:242]
synonym: "testis-determining Factor, X-chromosomal" RELATED [OMIM:400044]
xref: DOID:14448 {source="MONDO:equivalentTo"}
xref: GARD:5068 {source="MONDO:GARD"}
xref: ICD10CM:Q99.1 {source="Orphanet:242/e", source="Orphanet:242/inclusion", source="Orphanet:242"}
xref: MEDGEN:445380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567574
xref: MESH:C567575
xref: MESH:D006061 {source="DOID:14448", source="MONDO:equivalentTo"}
xref: NCIT:C120198 {source="DOID:14448", source="MONDO:equivalentTo"}
xref: NORD:1750 {source="MONDO:NORD"}
xref: OMIMPS:400044 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:242 {source="OMIM:400044", source="MONDO:equivalentTo"}
xref: SCTID:95218005 {source="MONDO:equivalentTo"}
xref: UMLS:C2936694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:445380"}
is_a: MONDO:0001967 {source="DOID:14448", source="MESH:D006061", source="NCIT:C120198", source="OMIM:400044/inferred"} ! gonadal dysgenesis
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0019520 {source="Orphanet:242", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic lymphedema
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:400044"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0010766
name: obsolete 46,XX sex reversal 1
comment: Split this term - created a new grouping class that is equivalent to the Orphanet class (Orphanet:393) and created a new class for this term, equivalent to the OMIM term (OMIM:400045).
is_obsolete: true
replaced_by: MONDO:0100250

[Term]
id: MONDO:0010767
name: spermatogenic failure, Y-linked, 2
subset: gard_rare {source="GARD:18504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Azf regions" RELATED [OMIM:415000]
synonym: "azoospermia Factor regions" RELATED [OMIM:415000]
synonym: "azoospermia, nonobstructive, Y-linked" RELATED [OMIM:415000]
synonym: "oligospermia, nonobstructive, Y-linked" RELATED [OMIM:415000]
synonym: "oligozoospermia, nonobstructive, Y-linked" RELATED [OMIM:415000]
synonym: "spermatogenic arrest, Y-linked" RELATED [OMIM:415000]
synonym: "spermatogenic failure, nonobstructive, Y-linked" RELATED [OMIM:415000]
synonym: "spermatogenic failure, Y-linked, 2" EXACT [MONDO:Lexical, OMIM:415000]
synonym: "spermatogenic failure, Y-linked, 2, Y-linked" EXACT [OMIM:415000, OMIM:genemap2]
synonym: "spermatogenic failure, Y-linked, type 2" EXACT [MONDORULE:1, OMIM:415000]
synonym: "SPGFY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:415000]
xref: DOID:0070187 {source="MONDO:equivalentTo"}
xref: GARD:18504 {source="MONDO:GARD"}
xref: MEDGEN:326394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564030 {source="MONDO:equivalentTo"}
xref: OMIM:415000 {source="MONDO:equivalentTo"}
xref: Orphanet:1646 {source="OMIM:415000"}
xref: UMLS:C1839071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326394"}
is_a: MONDO:0004983 {source="DC-OMIM:415000", source="OMIM:415000"} ! spermatogenic failure
is_a: MONDO:0015607 {source="Orphanet:1646/btnt"} ! partial chromosome Y deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010768
name: gonadoblastoma
def: "A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype." [NCIT:C3754]
synonym: "gonad blastoma" EXACT [MONDO:patterns/location]
synonym: "gonadoblastoma" EXACT [NCIT:C3754]
xref: DOID:3301 {source="MONDO:equivalentTo"}
xref: ICD10CM:D39.1 {source="Orphanet:206484/ntbt", source="Orphanet:206484"}
xref: ICDO:9073/1 {source="NCIT:C3754"}
xref: MEDGEN:104912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018238 {source="DOID:3301", source="MONDO:equivalentTo"}
xref: NCIT:C3754 {source="DOID:3301", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NCIT:C39985 {source="ONCOTREE:OGBL"}
xref: ONCOTREE:OGBL {source="MONDO:equivalentTo"}
xref: SCTID:74751003 {source="DOID:3301"}
xref: UMLS:C0206661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104912"}
is_a: MONDO:0002259 {source="DOID:3301", source="MESH:D018238/inferred", source="MONDO:Redundant", source="NCIT:C3754/inferred"} ! gonadal disorder
is_a: MONDO:0002478 {source="NCIT:C3754"} ! mixed germ cell-sex cord-stromal tumor
is_a: MONDO:0005565 {source="DOID:3301", source="MONDO:Entailed", source="MONDO:Redundant"} ! blastoma
is_a: MONDO:0006055 {source="https://www.ncbi.nlm.nih.gov/books/NBK558916/"} ! sex cord-stromal tumor
intersection_of: MONDO:0005565 ! blastoma
intersection_of: disease_has_location UBERON:0000991 ! gonad

[Term]
id: MONDO:0010769
name: hairy ears, Y-linked
synonym: "hairy ears, Y-linked" EXACT [OMIM:425500]
synonym: "hairy ears, Y-linked, Y-linked" EXACT [OMIM:425500, OMIM:genemap2]
synonym: "hypertrichosis pinnae auris, Y-linked" RELATED [OMIM:425500]
xref: MEDGEN:374123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564029 {source="MONDO:equivalentTo"}
xref: OMIM:425500 {source="MONDO:equivalentTo"}
xref: UMLS:C1839070 {source="MEDGEN:374123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564029/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010770
name: ubiquitin-activating enzyme, Y-linked
synonym: "Ube1Y" RELATED [OMIM:489000]
synonym: "ubiquitin-activating enzyme, Y-linked" EXACT [OMIM:489000]
xref: MEDGEN:326389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:489000 {source="MONDO:equivalentTo"}
xref: UMLS:C1839046 {source="MEDGEN:326389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010771
name: histiocytoid cardiomyopathy
def: "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." [Orphanet:137675]
subset: gard_rare {source="GARD:9511", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137675"}
subset: orphanet_rare {source="Orphanet:137675"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arachnocytosis of the myocardium" EXACT [NCIT:C45745]
synonym: "cardiomyopathy, focal Lipid" RELATED [OMIM:500000]
synonym: "cardiomyopathy, infantile histiocytoid" RELATED [OMIM:500000]
synonym: "cardiomyopathy, infantile xanthomatous" RELATED [OMIM:500000]
synonym: "cardiomyopathy, oncocytic" RELATED [OMIM:500000]
synonym: "congenital cardiomyopathy" EXACT [NCIT:C45745]
synonym: "foamy myocardial transformation of infancy" EXACT [Orphanet:137675]
synonym: "focal lipid cardiomyopathy" RELATED [GARD:0009511]
synonym: "histiocytoid cardiomyopathy" EXACT [GARD:0009511]
synonym: "infantile cardiomyopathy with histiocytoid change" EXACT [Orphanet:137675]
synonym: "infantile histiocytoid cardiomyopathy" RELATED [GARD:0009511]
synonym: "infantile xanthomatous cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675]
synonym: "isolated Cardiac lipidosis" EXACT [NCIT:C45745]
synonym: "myocardial hamartoma" EXACT [NCIT:C45745]
synonym: "oncocytic cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675]
synonym: "Purkinje cell hamartoma" EXACT [NCIT:C45745]
xref: DOID:0080198 {source="MONDO:equivalentTo"}
xref: GARD:9511 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="Orphanet:137675", source="Orphanet:137675/attributed", source="Orphanet:137675/ntbt"}
xref: MEDGEN:310844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535584 {source="Orphanet:137675", source="MONDO:equivalentTo", source="Orphanet:137675/e"}
xref: NCIT:C45745 {source="MONDO:equivalentTo"}
xref: OMIM:500000 {source="Orphanet:137675", source="DOID:0080198", source="MONDO:equivalentTo", source="Orphanet:137675/e", source="GARD:0009511"}
xref: Orphanet:137675 {source="OMIM:500000", source="MONDO:equivalentTo", source="GARD:0009511"}
xref: UMLS:C1708371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:310844"}
is_a: MONDO:0000591 {source="DOID:0080198", source="MONDO:indirect"} ! intrinsic cardiomyopathy
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0004994 {source="DOID:0080198/inferred", source="MESH:C535584", source="MONDO:Redundant", source="NCIT:C45745", source="Orphanet:137675/inferred"} ! cardiomyopathy
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy" xsd:anyURI {source="GARD:0009511"}

[Term]
id: MONDO:0010772
name: Leber optic atrophy and dystonia
subset: gard_rare {source="GARD:15311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dystonia familial, with visual failure and striatal lucencies" RELATED [GARD:0008476]
synonym: "dystonia, familial, with visual failure and striatal lucencies" RELATED [MESH:C536024, OMIM:500001]
synonym: "LDYT" RELATED ABBREVIATION [GARD:0008476]
synonym: "Leber Hereditary optic neuropathy with dystonia" RELATED [MESH:C536024]
synonym: "Leber hereditary optic neuropathy with dystonia" RELATED [OMIM:500001]
synonym: "Leber optic atrophy and dystonia" EXACT [OMIM:500001]
synonym: "Leber's hereditary optic neuropathy with dystonia" RELATED [GARD:0008476]
synonym: "LHON and dystonia" RELATED [GARD:0008476]
synonym: "Marsden syndrome" RELATED [OMIM:500001]
xref: DOID:0111755 {source="MONDO:equivalentTo"}
xref: GARD:15311 {source="MONDO:GARD"}
xref: MEDGEN:333240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536024 {source="MONDO:equivalentTo"}
xref: OMIM:500001 {source="MONDO:equivalentTo"}
xref: Orphanet:99718 {source="OMIM:500001"}
xref: UMLS:C1839040 {source="MEDGEN:333240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010788 {source="MESH:C536024"} ! Leber hereditary optic neuropathy
is_a: MONDO:0020478 {source="Orphanet:99718/btnt"} ! Leber plus disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0010773
name: mitochondrial myopathy with diabetes
subset: gard_rare {source="GARD:3881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2596"}
subset: orphanet_rare {source="Orphanet:2596"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial myopathy with diabetes" EXACT [OMIM:500002]
synonym: "mitochondrial myopathy, lipid type" EXACT [OMIM:500002]
synonym: "myopathy and diabetes mellitus" EXACT [Orphanet:2596]
xref: GARD:3881 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:2596/attributed", source="Orphanet:2596/ntbt", source="Orphanet:2596"}
xref: MEDGEN:333236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564026 {source="MONDO:equivalentTo"}
xref: OMIM:500002 {source="Orphanet:2596", source="MONDO:equivalentTo", source="Orphanet:2596/e"}
xref: Orphanet:2596 {source="OMIM:500002", source="MONDO:equivalentTo"}
xref: UMLS:C1839028 {source="MEDGEN:333236", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009637 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial myopathy
relationship: excluded_subClassOf MONDO:0005015 {source="Orphanet:2596", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare

[Term]
id: MONDO:0010774
name: striatonigral degeneration, infantile, mitochondrial
subset: gard_rare {source="GARD:18315", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bilateral striatal Necrosis, infantile, mitochondrial" RELATED [OMIM:500003]
synonym: "infantile bilateral striatal Necrosis, mitochondrial" RELATED [OMIM:500003]
synonym: "striatonigral degeneration, infantile, mitochondrial" EXACT [OMIM:500003]
xref: GARD:18315 {source="MONDO:GARD"}
xref: MEDGEN:374113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564025 {source="MONDO:equivalentTo"}
xref: OMIM:500003 {source="MONDO:equivalentTo"}
xref: Orphanet:1576 {source="OMIM:500003"}
xref: Orphanet:225154 {source="OMIM:500003"}
xref: UMLS:C1839022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374113"}
is_a: MONDO:0010080 {source="Orphanet:225154/btnt"} ! familial infantile bilateral striatal necrosis

[Term]
id: MONDO:0010775
name: retinitis pigmentosa-deafness syndrome
def: "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome." [DOID:0110829, PMID:10090882]
comment: Editor note: check relationship to Usher 3 from ORDO
subset: gard_rare {source="GARD:4684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 21" RELATED [OMIM:500004]
synonym: "retinitis pigmentosa 21, formerly" RELATED [OMIM:500004]
synonym: "retinitis pigmentosa 8" RELATED [OMIM:500004]
synonym: "retinitis pigmentosa 8, formerly" RELATED [OMIM:500004]
synonym: "retinitis pigmentosa-deafness syndrome" EXACT [OMIM:500004]
synonym: "RP21, formerly" RELATED [GARD:0004684]
synonym: "RP8, formerly" RELATED [GARD:0004684]
xref: DOID:0110829 {source="MONDO:equivalentTo"}
xref: GARD:4684 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110829"}
xref: MEDGEN:1830314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:500004 {source="MONDO:equivalentTo", source="DOID:0110829"}
xref: Orphanet:231183 {source="MONDO:OtherRelationship", source="OMIM:500004", source="DOID:0110829", source="MONDO:directSiblingOf"}
xref: Orphanet:886 {source="OMIM:500004"}
xref: SCTID:57838006 {source="MONDO:equivalentTo"}
xref: UMLS:C5779620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830314"}
is_a: MONDO:0019501 {source="DOID:0110829"} ! Usher syndrome
relationship: disease_shares_features_of MONDO:0016485 ! Usher syndrome type 3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010776
name: hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
synonym: "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial" EXACT [OMIM:500005]
xref: MEDGEN:333234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564024 {source="MONDO:equivalentTo"}
xref: OMIM:500005 {source="MONDO:equivalentTo"}
xref: UMLS:C1839021 {source="MEDGEN:333234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564024/inferred"} ! hereditary disease

[Term]
id: MONDO:0010777
name: cardiomyopathy, infantile hypertrophic
xref: DOID:0111753 {source="MONDO:equivalentTo"}
xref: MEDGEN:412660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:500006 {source="MONDO:equivalentTo"}
xref: UMLS:C2748884 {source="MEDGEN:412660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010778
name: cyclic vomiting syndrome
def: "A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting." [PMID:22634989, PMID:25332060]
synonym: "CVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500007]
synonym: "Cvs-plus" RELATED [OMIM:500007]
synonym: "cyclic vomiting syndrome" EXACT [MONDO:Lexical, OMIM:500007]
synonym: "cyclic vomiting syndrome with neuromuscular disease" RELATED [OMIM:500007]
synonym: "cyclic vomiting syndrome-plus" RELATED [OMIM:500007]
xref: MEDGEN:57509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100258 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200919 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:500007 {source="MONDO:equivalentTo"}
xref: UMLS:C0152164 {source="MEDGEN:57509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100070 {source="PMID:22634989"} ! neuroendocrine disorder
relationship: disease_has_major_feature HP:0002017 {source="PMID:25332060"} ! Nausea and vomiting
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7490 ! MT-TL1

[Term]
id: MONDO:0010779
name: mitochondrial non-syndromic sensorineural hearing loss
subset: gard_rare {source="GARD:16792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:90641"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90641"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, isolated, due to mitochondrial transmission" NARROW [GARD:0001709]
synonym: "deafness, nonsyndromic sensorineural, mitochondrial" RELATED [OMIM:500008]
synonym: "isolated mitochondrial neurosensory deafness" NARROW [Orphanet:90641]
synonym: "isolated mitochondrial sensorineural deafness" NARROW [Orphanet:90641]
synonym: "mitochondrial non-syndromic neurosensory deafness" NARROW [Orphanet:90641]
synonym: "mitochondrial non-syndromic sensorineural deafness" NARROW [OMIM:500008]
xref: DOID:0111751 {source="MONDO:equivalentTo"}
xref: GARD:16792 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="Orphanet:90641", source="Orphanet:90641/attributed", source="Orphanet:90641/ntbt"}
xref: MEDGEN:463247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:500008 {source="MONDO:equivalentTo", source="Orphanet:90641", source="Orphanet:90641/e"}
xref: Orphanet:90641 {source="MONDO:equivalentTo", source="OMIM:500008"}
xref: UMLS:C3151897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463247"}
is_a: MONDO:0016297 {source="Orphanet:90641"} ! prelingual non-syndromic genetic hearing loss
is_a: MONDO:0016298 {source="Orphanet:90641"} ! postlingual non-syndromic genetic hearing loss
is_a: MONDO:0016387 {source="Orphanet:90641"} ! mitochondrial oxidative phosphorylation disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010780
name: mitochondrial myopathy with reversible cytochrome C oxidase deficiency
subset: gard_rare {source="GARD:17227", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254864"}
subset: orphanet_rare {source="Orphanet:254864"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign COX deficiency" EXACT [Orphanet:254864]
synonym: "Cox deficiency myopathy, infantile, transient" RELATED [OMIM:500009]
synonym: "infantile reversible cytochrome C oxidase deficiency myopathy" EXACT [Orphanet:254864]
synonym: "mitochondrial myopathy with reversible complex IV deficiency" EXACT [Orphanet:254864]
synonym: "mitochondrial myopathy with reversible COX deficiency" EXACT [Orphanet:254864]
synonym: "mitochondrial myopathy, infantile, transient" RELATED [MONDO:Lexical, OMIM:500009]
synonym: "mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency" RELATED [OMIM:500009]
synonym: "MMIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500009]
synonym: "respiratory chain deficiency, infantile, transient" RELATED [OMIM:500009]
synonym: "reversible infantile cytochrome C oxidase deficiency" EXACT [Orphanet:254864]
synonym: "reversible infantile respiratory chain deficiency" EXACT [Orphanet:254864]
xref: GARD:17227 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:254864", source="Orphanet:254864/attributed", source="Orphanet:254864/ntbt"}
xref: MEDGEN:463248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:500009 {source="MONDO:equivalentTo", source="Orphanet:254864", source="Orphanet:254864/e"}
xref: Orphanet:254864 {source="MONDO:equivalentTo", source="OMIM:500009"}
xref: UMLS:C3151898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463248"}
is_a: MONDO:0009637 {source="DC-OMIM:500009"} ! inborn mitochondrial myopathy

[Term]
id: MONDO:0010781
name: ataxia and polyneuropathy, adult-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0111750 {source="MONDO:equivalentTo"}
xref: MEDGEN:374087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564020 {source="MONDO:equivalentTo"}
xref: OMIM:500010 {source="MONDO:equivalentTo"}
xref: UMLS:C1838916 {source="MEDGEN:374087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_basis_in_disruption_of GO:0006281 {source="https://orcid.org/0000-0001-6330-7526"} ! DNA repair
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3195" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI

[Term]
id: MONDO:0010782
name: myopathy, lactic acidosis, and sideroblastic anemia 3
subset: gard_rare {source="GARD:15312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MLASA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500011]
synonym: "myopathy, lactic acidosis, and sideroblastic anaemia type 3" EXACT OMO:0003005 []
synonym: "myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT [MONDO:Lexical, OMIM:500011]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia type 3" EXACT [MONDORULE:1, OMIM:500011]
xref: DOID:0111184 {source="MONDO:equivalentTo"}
xref: GARD:15312 {source="MONDO:GARD"}
xref: MEDGEN:903059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:500011 {source="MONDO:equivalentTo"}
xref: Orphanet:2598 {source="OMIM:500011"}
xref: UMLS:C4225415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903059"}
is_a: MONDO:0000863 {source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia

[Term]
id: MONDO:0010783
name: obsolete Alzheimer disease, susceptibility to, mitochondrial
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4363" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5879" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100295

[Term]
id: MONDO:0010784
name: chloramphenicol toxicity
synonym: "anemia, chloramphenicol-induced" RELATED [OMIM:515000]
synonym: "chloramphenicol resistance" RELATED [OMIM:515000]
synonym: "chloramphenicol toxicity" EXACT [OMIM:515000]
xref: MEDGEN:374104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:515000 {source="MONDO:equivalentTo"}
xref: UMLS:C1838989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374104"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010785
name: maternally-inherited diabetes and deafness
def: "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." [Orphanet:225]
subset: gard_rare {source="GARD:4003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ballinger Wallace syndrome" RELATED [GARD:0004003]
synonym: "Ballinger-Wallace syndrome" RELATED [OMIM:520000]
synonym: "diabetes and deafness, maternally inherited" RELATED [GARD:0004003, MONDO:Lexical, OMIM:520000]
synonym: "diabetes mellitus type II with deafness" RELATED [GARD:0004003]
synonym: "diabetes mellitus, type II, with deafness" RELATED [OMIM:520000]
synonym: "diabetes-deafness syndrome, maternally Transmitted" RELATED [OMIM:520000]
synonym: "maternally inherited diabetes and deafness" RELATED [GARD:0004003]
synonym: "MIDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:520000, Orphanet:225]
synonym: "mitochondrial diabetes" EXACT [Orphanet:225]
synonym: "Niddm with deafness" RELATED [OMIM:520000]
synonym: "noninsulin-dependent diabetes mellitus with deafness" RELATED [OMIM:520000]
xref: GARD:4003 {source="MONDO:GARD"}
xref: ICD10CM:E13.8 {source="Orphanet:225", source="Orphanet:225/attributed", source="Orphanet:225/ntbt"}
xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536246 {source="Orphanet:225", source="MONDO:equivalentTo", source="Orphanet:225/e"}
xref: NCIT:C131859 {source="MONDO:equivalentTo"}
xref: OMIM:520000 {source="Orphanet:225", source="MONDO:equivalentTo", source="Orphanet:225/e"}
xref: Orphanet:225 {source="OMIM:520000", source="MONDO:equivalentTo"}
xref: SCTID:237619009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90979"}
is_a: MONDO:0005015 {source="MESH:C536246/inferred", source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="NCIT:C131859", source="Orphanet:225", source="Orphanet:225/inferred"} ! diabetes mellitus
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
relationship: has_characteristic SO:1000008 ! point_mutation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness" xsd:anyURI {source="GARD:0004003"}

[Term]
id: MONDO:0010786
name: chronic diarrhea with villous atrophy
def: "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." [Orphanet:1670]
subset: gard_rare {source="GARD:16576", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1670"}
subset: orphanet_rare {source="Orphanet:1670"}
subset: rare
synonym: "diarrhea, chronic, with villous atrophy" RELATED [OMIM:520100]
xref: GARD:16576 {source="MONDO:GARD"}
xref: ICD10CM:K59.1 {source="Orphanet:1670", source="MONDO:relatedTo", source="Orphanet:1670/attributed", source="Orphanet:1670/ntbt"}
xref: MEDGEN:325129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564019 {source="MONDO:equivalentTo"}
xref: OMIM:520100 {source="Orphanet:1670", source="MONDO:equivalentTo", source="Orphanet:1670/e"}
xref: Orphanet:1670 {source="OMIM:520100", source="MONDO:equivalentTo"}
xref: UMLS:C1838912 {source="MEDGEN:325129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:1670", source="Orphanet:1670/inferred"} ! intestinal disorder
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare

[Term]
id: MONDO:0010787
name: Kearns-Sayre syndrome
def: "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." [Orphanet:480]
subset: gard_rare {source="GARD:6817", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1323"}
subset: ordo_disorder {source="Orphanet:480"}
subset: orphanet_rare {source="Orphanet:480"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic progressive external ophthalmoplegia with myopathy" RELATED [OMIM:530000]
synonym: "CPEO with myopathy" RELATED [OMIM:530000]
synonym: "CPEO with ragged red fibers" RELATED [GARD:0006817]
synonym: "CPEO with ragged red fibres" RELATED OMO:0003005 []
synonym: "CPEO with ragged-Red fibers" RELATED [OMIM:530000]
synonym: "CPEO with ragged-Red fibres" RELATED OMO:0003005 []
synonym: "Kearns Sayre Syndrome" EXACT [NORD:1323]
synonym: "Kearns-Sayre syndrome" EXACT [MONDO:Lexical, OMIM:530000]
synonym: "KSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:530000]
synonym: "mitochondrial Cytopathy" RELATED [OMIM:530000]
synonym: "oculocraniosomatic syndrome" RELATED [OMIM:530000]
synonym: "ophthalmoplegia plus syndrome" RELATED [GARD:0006817]
synonym: "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy" RELATED [OMIM:530000]
synonym: "ophthalmoplegia, progressive external, with ragged red fibers" RELATED [GARD:0006817]
synonym: "ophthalmoplegia, progressive external, with ragged red fibres" RELATED OMO:0003005 []
synonym: "ophthalmoplegia, progressive external, with ragged-Red fibers" RELATED [OMIM:530000]
synonym: "ophthalmoplegia, progressive external, with ragged-Red fibres" RELATED OMO:0003005 []
synonym: "ophthalmoplegia-plus syndrome" RELATED [OMIM:530000]
xref: DOID:12934 {source="MONDO:equivalentTo"}
xref: GARD:6817 {source="MONDO:GARD"}
xref: ICD10CM:H49.8 {source="Orphanet:480/inclusion", source="Orphanet:480", source="Orphanet:480/ntbt"}
xref: ICD10CM:H49.81 {source="DOID:12934"}
xref: MedDRA:10048804 {source="Orphanet:480", source="Orphanet:480/e"}
xref: MEDGEN:9618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007625 {source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480", source="Orphanet:480/e"}
xref: NANDO:1201064 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200529 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84798 {source="DOID:12934", source="MONDO:equivalentTo"}
xref: NORD:1323 {source="MONDO:NORD"}
xref: OMIM:530000 {source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480", source="Orphanet:480/e"}
xref: Orphanet:480 {source="OMIM:530000", source="MONDO:equivalentTo"}
xref: SCTID:25792000 {source="DOID:12934", source="MONDO:equivalentTo"}
xref: SCTID:51464001 {source="DOID:12934"}
xref: SCTID:77835008 {source="DOID:12934"}
xref: UMLS:C0022541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9618"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84798", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0005181 {source="DOID:12934", source="MESH:D007625"} ! progressive external ophthalmoplegia
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
is_a: MONDO:0044970 {source="Orphanet:480"} ! mitochondrial disease
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome" xsd:anyURI {source="GARD:0006817"}

[Term]
id: MONDO:0010788
name: Leber hereditary optic neuropathy
def: "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." [Orphanet:104]
subset: gard_rare {source="GARD:6870", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1352"}
subset: ordo_disorder {source="Orphanet:104"}
subset: orphanet_rare {source="Orphanet:104"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Leber Hereditary optic atrophy" EXACT [NCIT:C84808]
synonym: "Leber hereditary optic neuropathy" EXACT [OMIM:535000]
synonym: "Leber optic atrophy" EXACT [OMIM:535000, Orphanet:104]
synonym: "Leber's hereditary optic neuropathy" EXACT [DOID:705]
synonym: "Leber's optic atrophy" EXACT [DOID:705]
synonym: "Leber’s disease" RELATED [GARD:0006870]
synonym: "LHON" EXACT ABBREVIATION [Orphanet:104]
synonym: "optic atrophy, Leber type" RELATED [GARD:0006870]
xref: DOID:705 {source="MONDO:equivalentTo"}
xref: GARD:6870 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:104", source="Orphanet:104/attributed", source="Orphanet:104/ntbt"}
xref: ICD10CM:H47.22 {source="DOID:705"}
xref: MEDGEN:182973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D029242 {source="DOID:705", source="MONDO:equivalentTo"}
xref: NANDO:1200178 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200940 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84808 {source="DOID:705", source="MONDO:equivalentTo"}
xref: NORD:1352 {source="MONDO:NORD"}
xref: OMIM:535000 {source="Orphanet:104", source="DOID:705", source="MONDO:equivalentTo", source="Orphanet:104/e"}
xref: Orphanet:104 {source="OMIM:535000", source="MONDO:equivalentTo"}
xref: SCTID:194045006 {source="DOID:705"}
xref: SCTID:230510002 {source="DOID:705"}
xref: SCTID:58610003 {source="DOID:705", source="MONDO:equivalentTo"}
xref: UMLS:C0917796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:182973"}
is_a: MONDO:0002135 {source="DOID:705", source="MESH:D029242/inferred"} ! optic nerve disorder
is_a: MONDO:0004069 {source="MESH:D029242", source="Orphanet:104/inferred"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020249 {source="Orphanet:104"} ! hereditary optic neuropathy
is_a: MONDO:0043878 {source="MESH:D029242", source="NCIT:C84808"} ! hereditary optic atrophy
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0010789
name: MELAS syndrome
def: "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." [Orphanet:550]
subset: gard_rare {source="GARD:7009", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:550"}
subset: orphanet_rare {source="Orphanet:550"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MELAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:540000]
synonym: "MELAS syndrome" EXACT [OMIM:540000]
synonym: "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes" RELATED [GARD:0007009]
synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke" EXACT [NCIT:C84885]
synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550]
synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550]
synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes" EXACT [DOID:3687, MONDO:Lexical, OMIM:540000]
xref: DOID:3687 {source="MONDO:equivalentTo"}
xref: GARD:7009 {source="MONDO:GARD"}
xref: ICD10CM:E88.41 {source="DOID:3687", source="MONDO:equivalentTo"}
xref: ICD10CM:G71.3 {source="Orphanet:550/attributed", source="Orphanet:550/ntbt", source="Orphanet:550"}
xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10053872 {source="Orphanet:550/e", source="Orphanet:550"}
xref: MEDGEN:56485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017241 {source="Orphanet:550/e", source="DOID:3687", source="MONDO:equivalentTo", source="Orphanet:550"}
xref: NANDO:1200176 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200525 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84885 {source="DOID:3687", source="MONDO:equivalentTo"}
xref: OMIM:540000 {source="Orphanet:550/e", source="DOID:3687", source="MONDO:equivalentTo", source="Orphanet:550"}
xref: Orphanet:550 {source="MONDO:equivalentTo", source="OMIM:540000"}
xref: SCTID:240097009 {source="DOID:3687"}
xref: SCTID:39925003 {source="DOID:3687", source="MONDO:equivalentTo"}
xref: UMLS:C0162671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56485"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84885"} ! syndromic disease
is_a: MONDO:0004675 {source="DOID:3687", source="MESH:D017241"} ! mitochondrial encephalomyopathy

[Term]
id: MONDO:0010790
name: MERRF syndrome
def: "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." [NCIT:P378]
subset: gard_rare {source="GARD:7144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1441"}
subset: ordo_disorder {source="Orphanet:551"}
subset: orphanet_rare {source="Orphanet:551"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fukuhara syndrome" EXACT [Orphanet:551]
synonym: "MERRF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:545000]
synonym: "MERRF syndrome" EXACT [OMIM:545000]
synonym: "myoclonic epilepsy - ragged red fibers" EXACT [DOID:310]
synonym: "myoclonic epilepsy - ragged red fibres" EXACT OMO:0003005 []
synonym: "myoclonic epilepsy associated with ragged red fibers" RELATED [GARD:0007144]
synonym: "myoclonic epilepsy associated with ragged red fibres" RELATED OMO:0003005 []
synonym: "myoclonic epilepsy associated with ragged-RED fibers" RELATED [MONDO:Lexical, OMIM:545000]
synonym: "myoclonic epilepsy associated with ragged-RED fibres" RELATED OMO:0003005 []
synonym: "myoclonic epilepsy with ragged red fibers" RELATED [GARD:0007144]
synonym: "myoclonic epilepsy with ragged red fibres" RELATED OMO:0003005 []
synonym: "myoclonus epilepsy and ragged red fibers" EXACT [DOID:310]
synonym: "myoclonus epilepsy and ragged red fibres" EXACT OMO:0003005 []
synonym: "myoclonus epilepsy associated with ragged-red fibers" EXACT [Orphanet:551]
synonym: "myoclonus epilepsy associated with ragged-red fibres" EXACT OMO:0003005 []
synonym: "myoclonus with epilepsy and with ragged Red fibers" EXACT [DOID:310]
synonym: "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)" EXACT [DOID:310]
synonym: "myoclonus with epilepsy and with ragged Red fibres" EXACT OMO:0003005 []
synonym: "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)" EXACT OMO:0003005 []
synonym: "myoencephalopathy ragged-red fiber disease" RELATED [GARD:0007144]
synonym: "myoencephalopathy ragged-red fibre disease" RELATED OMO:0003005 []
xref: DOID:310 {source="MONDO:equivalentTo"}
xref: GARD:7144 {source="MONDO:GARD"}
xref: ICD10CM:E88.42 {source="MONDO:equivalentTo", source="DOID:310"}
xref: ICD10CM:G71.3 {source="Orphanet:551/attributed", source="Orphanet:551/ntbt", source="Orphanet:551"}
xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069825 {source="Orphanet:551/e", source="Orphanet:551"}
xref: MEDGEN:56486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017243 {source="Orphanet:551/e", source="MONDO:equivalentTo", source="DOID:310", source="Orphanet:551"}
xref: NANDO:1200177 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200526 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84889 {source="MONDO:equivalentTo", source="DOID:310"}
xref: NORD:1441 {source="MONDO:NORD"}
xref: OMIM:545000 {source="Orphanet:551/e", source="MONDO:equivalentTo", source="DOID:310", source="Orphanet:551"}
xref: Orphanet:551 {source="OMIM:545000", source="MONDO:equivalentTo"}
xref: SCTID:230426003 {source="DOID:310"}
xref: SCTID:57254004 {source="DOID:310"}
xref: SCTID:68448003 {source="MONDO:equivalentTo", source="DOID:310"}
xref: UMLS:C0162672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56486"}
is_a: MONDO:0002254 {source="NCIT:C84889"} ! syndromic disease
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0004675 {source="DOID:310", source="MESH:D017243"} ! mitochondrial encephalomyopathy
is_a: MONDO:0044970 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease
is_a: MONDO:0100033 {source="https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html"} ! metabolic epilepsy
relationship: excluded_subClassOf MONDO:0016022 {source="DC-OMIM:545000", source="https://orcid.org/0000-0001-5208-3432"} ! early myoclonic encephalopathy
relationship: excluded_subClassOf MONDO:0020074 {source="MESH:D017243", source="Orphanet:551", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI

[Term]
id: MONDO:0010791
name: myoglobinuria, recurrent
def: "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner." [https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent]
subset: gard_rare {source="GARD:3879", source="MONDO:GARD"}
subset: rare
synonym: "myoglobinuria recurrent" RELATED [GARD:0003879]
synonym: "myoglobinuria, recurrent" EXACT [OMIM:550500]
xref: GARD:3879 {source="MONDO:GARD"}
xref: MEDGEN:333201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564018 {source="MONDO:equivalentTo"}
xref: OMIM:550500 {source="MONDO:equivalentTo"}
xref: Orphanet:99845 {source="OMIM:550500"}
xref: UMLS:C1838877 {source="MEDGEN:333201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000866 {source="DC-OMIM:550500", source="MESH:C564018"} ! hereditary myoglobinuria
is_a: MONDO:0020504 {source="Orphanet:99845/btnt"} ! hereditary recurrent myoglobinuria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent" xsd:anyURI {source="GARD:0003879"}

[Term]
id: MONDO:0010792
name: lethal infantile mitochondrial myopathy
def: "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." [Orphanet:254857]
subset: gard_rare {source="GARD:17226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254857"}
subset: orphanet_rare {source="Orphanet:254857"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lethal infantile mitochondrial disease" EXACT [Orphanet:254857]
synonym: "LIMD" EXACT ABBREVIATION [Orphanet:254857]
synonym: "LIMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:551000, Orphanet:254857]
synonym: "mitochondrial myopathy, lethal, infantile" RELATED [MONDO:Lexical, OMIM:551000]
xref: GARD:17226 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:254857", source="Orphanet:254857/attributed", source="Orphanet:254857/ntbt"}
xref: MEDGEN:374077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564017 {source="MONDO:equivalentTo"}
xref: OMIM:551000 {source="Orphanet:254857/e", source="MONDO:equivalentTo", source="Orphanet:254857"}
xref: Orphanet:254857 {source="MONDO:equivalentTo", source="OMIM:551000"}
xref: SCTID:766251006 {source="MONDO:equivalentTo"}
xref: UMLS:C1838876 {source="MEDGEN:374077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009637 {source="DC-OMIM:551000", source="MESH:C564017"} ! inborn mitochondrial myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7499 {source="MONDO:mim2gene_medgen"} ! MT-TT

[Term]
id: MONDO:0010793
name: nephropathy, chronic tubulointerstitial
synonym: "nephropathy, chronic tubulointerstitial" EXACT [OMIM:551200]
xref: MEDGEN:333200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564016 {source="MONDO:equivalentTo"}
xref: OMIM:551200 {source="MONDO:equivalentTo"}
xref: UMLS:C1838875 {source="MEDGEN:333200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010794
name: NARP syndrome
def: "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." [Orphanet:644]
subset: gard_rare {source="GARD:262", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:644"}
subset: orphanet_rare {source="Orphanet:644"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NARP" RELATED ABBREVIATION [GARD:0000262]
synonym: "NARP syndrome" EXACT [OMIM:551500]
synonym: "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644]
synonym: "neuropathy ataxia retinitis pigmentosa syndrome" RELATED [GARD:0000262]
synonym: "neuropathy, ataxia, and retinitis pigmentosa" RELATED [OMIM:551500]
synonym: "neuropathy-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644]
xref: DOID:0111273 {source="MONDO:equivalentTo"}
xref: GARD:262 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:644/attributed", source="Orphanet:644/ntbt", source="Orphanet:644"}
xref: icd11.foundation:2089784682 {source="Orphanet:644", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10062940 {source="Orphanet:644", source="Orphanet:644/e"}
xref: MEDGEN:231285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537396 {source="MONDO:equivalentTo"}
xref: OMIM:551500 {source="Orphanet:644", source="MONDO:equivalentTo", source="Orphanet:644/e"}
xref: Orphanet:644 {source="MONDO:equivalentTo", source="OMIM:551500"}
xref: UMLS:C1328349 {source="MEDGEN:231285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
is_a: MONDO:0100033 ! metabolic epilepsy
relationship: has_characteristic SO:1000008 ! point_mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7414 {source="MONDO:mim2gene_medgen"} ! MT-ATP6

[Term]
id: MONDO:0010795
name: oncocytic neoplasm
def: "A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)" [NCIT:C7072]
subset: otar {source="MONDO:OTAR"}
synonym: "oncocytic neoplasm" EXACT [NCIT:C7072]
synonym: "oncocytic tumor" EXACT [NCIT:C7072]
synonym: "oncocytic tumour" EXACT OMO:0003005 []
synonym: "oncocytoma" BROAD [NCIT:C7072]
synonym: "oncocytoma, benign" EXACT [NCIT:C7072]
xref: MEDGEN:237181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7072 {source="MONDO:equivalentTo"}
xref: OMIM:553000 {source="MONDO:equivalentTo"}
xref: UMLS:C1378050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237181"}
is_a: MONDO:0024276 {source="NCIT:C7072"} ! glandular cell neoplasm

[Term]
id: MONDO:0010796
name: Parkinson disease, mitochondrial
subset: otar {source="MONDO:OTAR"}
synonym: "Parkinson disease, mitochondrial" EXACT [OMIM:556500]
xref: MEDGEN:333199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564015 {source="MONDO:equivalentTo"}
xref: OMIM:556500 {source="MONDO:equivalentTo"}
xref: UMLS:C1838867 {source="MEDGEN:333199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DC-OMIM:556500", source="MESH:C564015"} ! Parkinson disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7499 {source="MONDO:mim2gene_medgen"} ! MT-TT

[Term]
id: MONDO:0010797
name: Pearson syndrome
def: "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." [Orphanet:699]
subset: gard_rare {source="GARD:7343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:699"}
subset: orphanet_rare {source="Orphanet:699"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pearson marrow-pancreas syndrome" EXACT [DOID:0060067, OMIM:557000]
synonym: "Pearson's marrow/pancreas syndrome" RELATED [GARD:0007343]
synonym: "Pearson's syndrome" RELATED [GARD:0007343]
synonym: "sideroblastic Anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED OMO:0003005 []
synonym: "sideroblastic anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED OMO:0003005 []
synonym: "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED [OMIM:557000]
synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED [GARD:0007343]
xref: DOID:0060067 {source="MONDO:equivalentTo"}
xref: GARD:7343 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:699/attributed", source="Orphanet:699/ntbt", source="Orphanet:699"}
xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062941 {source="Orphanet:699", source="Orphanet:699/e"}
xref: MEDGEN:87459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C115326 {source="MONDO:equivalentTo"}
xref: OMIM:557000 {source="DOID:0060067", source="Orphanet:699", source="MONDO:equivalentTo", source="Orphanet:699/e"}
xref: Orphanet:699 {source="OMIM:557000", source="MONDO:equivalentTo"}
xref: SCTID:237985009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342784 {source="MEDGEN:87459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C115326"} ! syndromic disease
relationship: disease_has_feature HP:0001924 ! Sideroblastic anemia
relationship: excluded_subClassOf MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! constitutional neutropenia
relationship: excluded_subClassOf MONDO:0015188 {source="Orphanet:699", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metabolic disorder with intestinal involvement
relationship: excluded_subClassOf MONDO:0015895 {source="Orphanet:699", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with hypoparathyroidism
relationship: excluded_subClassOf MONDO:0016792 {source="Orphanet:699", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
relationship: excluded_subClassOf MONDO:0020099 {source="Orphanet:699", source="https://orcid.org/0000-0001-5208-3432"} ! inherited sideroblastic anemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome" xsd:anyURI {source="GARD:0007343"}

[Term]
id: MONDO:0010798
name: proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
def: "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." [Orphanet:3390]
synonym: "proximal tubulopathy, diabetes mellitus and cerebellar ataxia" RELATED [GARD:0004532]
synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia" RELATED [OMIM:560000]
synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA" RELATED [GARD:0004532]
xref: ICD10CM:Q87.8 {source="Orphanet:3390", source="Orphanet:3390/attributed", source="Orphanet:3390/ntbt"}
xref: MEDGEN:463309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564014 {source="MONDO:equivalentTo"}
xref: OMIM:560000 {source="MONDO:equivalentTo", source="Orphanet:3390", source="Orphanet:3390/e"}
xref: Orphanet:3390 {source="MONDO:equivalentObsolete", source="OMIM:560000"}
xref: UMLS:C3151959 {source="MEDGEN:463309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0010799
name: deafness, aminoglycoside-induced
subset: gard_rare {source="GARD:18161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:168609"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "aminoglycoside-induced deafness" EXACT [OMIM:580000]
synonym: "aminoglycoside-induced hearing loss" BROAD [https://orcid.org/0000-0002-6025-0015]
synonym: "deafness, aminoglycoside-induced" EXACT [OMIM:580000]
synonym: "deafness, mitochondrial, modifier of, mitochondrial" EXACT [OMIM:580000, OMIM:genemap2]
synonym: "deafness, streptomycin-induced" EXACT [OMIM:580000]
synonym: "mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609]
synonym: "mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609]
synonym: "mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609]
synonym: "mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609]
synonym: "mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609]
synonym: "streptomycin ototoxicity" EXACT [OMIM:580000]
xref: DOID:0111734 {source="MONDO:equivalentTo"}
xref: GARD:18161 {source="MONDO:GARD"}
xref: MEDGEN:374074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564013 {source="MONDO:equivalentTo"}
xref: OMIM:580000 {source="Orphanet:168609/e", source="MONDO:equivalentTo", source="Orphanet:168609"}
xref: Orphanet:168609 {source="MONDO:equivalentObsolete", source="OMIM:580000"}
xref: UMLS:C1838854 {source="MEDGEN:374074", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016298 {source="Orphanet:168609"} ! postlingual non-syndromic genetic hearing loss
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
relationship: has_characteristic SO:1000008 ! point_mutation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4279" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010800
name: Wolfram syndrome, mitochondrial form
subset: gard_rare {source="GARD:15313", source="MONDO:GARD"}
subset: rare
synonym: "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" RELATED [OMIM:598500]
synonym: "Didmoad syndrome, mitochondrial form" RELATED [OMIM:598500]
synonym: "Wolfram syndrome, mitochondrial form" EXACT [OMIM:598500]
xref: DOID:0080583 {source="MONDO:equivalentTo"}
xref: GARD:15313 {source="MONDO:GARD"}
xref: MEDGEN:325511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564012 {source="MONDO:equivalentTo"}
xref: OMIM:598500 {source="MONDO:equivalentTo"}
xref: Orphanet:3463 {source="OMIM:598500"}
xref: UMLS:C1838782 {source="MEDGEN:325511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018105 {source="DC-OMIM:598500"} ! Wolfram syndrome

[Term]
id: MONDO:0010801
name: spondylocamptodactyly syndrome
def: "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis." [Orphanet:3180]
subset: gard_rare {source="GARD:4972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3180"}
subset: ordo_malformation_syndrome {source="Orphanet:3180"}
subset: orphanet_rare {source="Orphanet:3180"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptodactyly with cervical platyspondyly" RELATED [OMIM:600000]
synonym: "spondylo camptodactyly syndrome" RELATED [GARD:0004972]
synonym: "spondylocamptodactyly" RELATED [OMIM:600000]
xref: GARD:4972 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:3180", source="Orphanet:3180/attributed", source="Orphanet:3180/ntbt"}
xref: MEDGEN:325510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535779 {source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"}
xref: OMIM:600000 {source="MONDO:equivalentTo", source="Orphanet:3180", source="Orphanet:3180/e"}
xref: Orphanet:3180 {source="OMIM:600000", source="MONDO:equivalentTo"}
xref: SCTID:716231009 {source="MONDO:equivalentTo"}
xref: UMLS:C1838781 {source="MEDGEN:325510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019694 {source="Orphanet:3180"} ! spondylodysplastic dysplasia

[Term]
id: MONDO:0010802
name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome
def: "A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." [Orphanet:2255]
subset: gard_rare {source="GARD:347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2255"}
subset: orphanet_rare {source="Orphanet:2255"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" RELATED [GARD:0000347]
synonym: "HDCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600001]
synonym: "heart defects, congenital, and other congenital anomalies" RELATED [MONDO:Lexical, OMIM:600001]
synonym: "hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease" RELATED [GARD:0000347]
synonym: "pancreatic agenesis and congenital heart defects" RELATED [OMIM:600001]
synonym: "pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease" RELATED [OMIM:600001]
synonym: "pancreatic hypoplasia-diabetes-congenital heart disease syndrome" EXACT CLINGEN_LABEL []
synonym: "Yorifuji Okuno syndrome" RELATED [GARD:0000347]
synonym: "Yorifuji-Okuno syndrome" EXACT [Orphanet:2255]
xref: DOID:0111733 {source="MONDO:equivalentTo"}
xref: GARD:347 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2255/attributed", source="Orphanet:2255/ntbt", source="Orphanet:2255"}
xref: MEDGEN:860891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564011 {source="MONDO:equivalentTo"}
xref: OMIM:600001 {source="Orphanet:2255", source="MONDO:equivalentTo", source="Orphanet:2255/e"}
xref: Orphanet:2255 {source="OMIM:600001", source="MONDO:equivalentTo"}
xref: SCTID:722206009 {source="MONDO:equivalentTo"}
xref: UMLS:C4012454 {source="MEDGEN:860891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="Orphanet:2255", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 {source="MONDO:mim2gene_medgen"} ! GATA6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0010803
name: Eiken syndrome
def: "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family." [Orphanet:79106]
subset: gard_rare {source="GARD:16698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79106"}
subset: ordo_malformation_syndrome {source="Orphanet:79106"}
subset: orphanet_rare {source="Orphanet:79106"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone modeling defect of hands and feet" RELATED [OMIM:600002]
synonym: "bone modelling defect of hands and feet" RELATED OMO:0003005 []
synonym: "Eiken skeletal dysplasia" RELATED [OMIM:600002]
synonym: "Eiken syndrome" EXACT [OMIM:600002]
xref: DOID:0111732 {source="MONDO:equivalentTo"}
xref: GARD:16698 {source="MONDO:GARD"}
xref: MEDGEN:325097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564010 {source="MONDO:equivalentTo"}
xref: OMIM:600002 {source="Orphanet:79106", source="MONDO:equivalentTo", source="Orphanet:79106/e"}
xref: Orphanet:79106 {source="OMIM:600002", source="MONDO:equivalentTo"}
xref: SCTID:720863002 {source="MONDO:equivalentTo"}
xref: UMLS:C1838779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325097"}
is_a: MONDO:0018230 {source="Orphanet:79106"} ! skeletal dysplasia
relationship: disease_has_feature HP:0004348 {source="Orphanet:79106"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:79106", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9608 {source="MONDO:mim2gene_medgen"} ! PTH1R
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010804
name: obsolete BRCATA
synonym: "BRCATA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600048]
synonym: "breast cancer, 11-22 translocation-associated" RELATED [MONDO:Lexical, OMIM:600048]
synonym: "moved to 114480" RELATED [OMIM:600048]
xref: OMIM:600048 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:227535 {source="OMIM:600048"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1698" xsd:anyURI
is_obsolete: true
consider: MONDO:0016419

[Term]
id: MONDO:0010805
name: bladder exstrophy
def: "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." [Orphanet:93930]
subset: gard_rare {source="GARD:6398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:860"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93930"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bladder exstrophy" EXACT [MONDO:ambiguous]
synonym: "bladder exstrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "bladder exstrophy and epispadias Complex" RELATED [OMIM:600057]
synonym: "Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex" EXACT [NORD:860]
synonym: "classic exstrophy of the bladder" EXACT [Orphanet:93930]
synonym: "ectopia vesicae" EXACT [NCIT:C123207]
synonym: "exstrophy of bladder" RELATED [OMIM:600057]
synonym: "exstrophy of the bladder" RELATED [GARD:0006398]
xref: DOID:0080174 {source="MONDO:equivalentTo"}
xref: GARD:6398 {source="MONDO:GARD"}
xref: HP:0002836 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q64.1 {source="DOID:0080174", source="Orphanet:93930/specific", source="Orphanet:93930", source="Orphanet:93930/e"}
xref: icd11.foundation:1927556258 {source="MONDO:equivalentTo", source="Orphanet:93930", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:753.5 {source="DOID:0080174", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001746 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="Orphanet:93930", source="Orphanet:93930/e"}
xref: NCIT:C123207 {source="MONDO:equivalentTo"}
xref: NORD:860 {source="MONDO:NORD"}
xref: Orphanet:322 {source="OMIM:600057"}
xref: Orphanet:93930 {source="DOID:0080174", source="OMIM:600057", source="MONDO:equivalentTo"}
xref: SCTID:61758007 {source="MONDO:equivalentTo"}
xref: UMLS:C0005689 {source="MEDGEN:2661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017919 {source="DOID:0080174", source="Orphanet:93930"} ! exstrophy-epispadias complex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3650" xsd:anyURI
property_value: IAO:0000589 "bladder exstrophy (disease)" xsd:string

[Term]
id: MONDO:0010806
name: retinitis pigmentosa 13
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10388", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PRPF8 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 13" EXACT [MONDO:Lexical, OMIM:600059]
synonym: "retinitis pigmentosa caused by mutation in PRPF8" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 13" EXACT [DOID:0110403, MONDORULE:2, OMIM:600059]
synonym: "RP 13" RELATED [GARD:0010388]
synonym: "RP13" EXACT ABBREVIATION [DOID:0110403, MONDO:Lexical, OMIM:600059]
xref: DOID:0110403 {source="MONDO:equivalentTo"}
xref: GARD:10388 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110403", source="MONDO:relatedTo"}
xref: MEDGEN:325486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564008 {source="MONDO:equivalentTo"}
xref: OMIM:600059 {source="DOID:0110403", source="MONDO:equivalentTo"}
xref: UMLS:C1838702 {source="MEDGEN:325486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:600059", source="DOID:0110403", source="MESH:C564008", source="MONDO:Redundant", source="OMIM:600059"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17340 ! PRPF8
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17340 {source="MONDO:mim2gene_medgen"} ! PRPF8
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13" xsd:anyURI {source="GARD:0010388"}

[Term]
id: MONDO:0010807
name: autosomal recessive nonsyndromic hearing loss 2
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 2" NARROW [DOID:0110477]
synonym: "autosomal recessive nonsyndromic deafness 2" NARROW [OMIM:600060]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO7A" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 2" NARROW [DOID:0110477, MONDORULE:1]
synonym: "deafness, autosomal recessive 2" NARROW [MONDO:Lexical, OMIM:600060, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 2" NARROW [MONDORULE:1, OMIM:600060]
synonym: "DFNB2" NARROW ABBREVIATION [DOID:0110477, MONDO:Lexical, OMIM:600060]
synonym: "MYO7A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neurosensory nonsyndromic recessive deafness 2" RELATED [OMIM:600060]
xref: DOID:0110477 {source="MONDO:equivalentTo"}
xref: GARD:22582 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110477"}
xref: MEDGEN:325485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564007 {source="MONDO:equivalentTo"}
xref: OMIM:600060 {source="MONDO:equivalentTo", source="DOID:0110477"}
xref: UMLS:C1838701 {source="MEDGEN:325485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:600060", source="DOID:0110477", source="MONDO:Redundant", source="OMIM:600060"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 ! MYO7A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 {source="MONDO:mim2gene_medgen"} ! MYO7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010808
name: fatal familial insomnia
def: "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." [Orphanet:466]
subset: gard_rare {source="GARD:6429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1920"}
subset: ordo_disorder {source="Orphanet:466"}
subset: orphanet_rare {source="Orphanet:466"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial fatal insomnia" RELATED [GARD:0006429]
synonym: "fatal familial INSOMNIA" RELATED [OMIM:600072]
synonym: "fatal familial insomnia" EXACT [MONDO:Lexical, OMIM:600072]
synonym: "FFI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600072]
synonym: "Insomnia familial fatal" RELATED [GARD:0006429]
synonym: "Insomnia, fatal familial" RELATED [OMIM:600072]
xref: DOID:0050433 {source="MONDO:equivalentTo"}
xref: GARD:6429 {source="MONDO:GARD"}
xref: ICD10CM:A81.8 {source="Orphanet:466", source="Orphanet:466/attributed", source="Orphanet:466/ntbt"}
xref: ICD10CM:A81.83 {source="DOID:0050433", source="MONDO:equivalentTo"}
xref: icd11.foundation:669154658 {source="Orphanet:466", source="MONDO:equivalentTo"}
xref: ICD9:046.72 {source="DOID:0050433"}
xref: MedDRA:10072077 {source="Orphanet:466", source="Orphanet:466/e"}
xref: MEDGEN:104768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034062 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="Orphanet:466/e"}
xref: NANDO:1200191 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84711 {source="DOID:0050433", source="MONDO:equivalentTo"}
xref: NORD:1920 {source="MONDO:NORD"}
xref: OMIM:600072 {source="Orphanet:466", source="DOID:0050433", source="MONDO:equivalentTo", source="Orphanet:466/e"}
xref: Orphanet:466 {source="MONDO:equivalentTo", source="OMIM:600072"}
xref: SCTID:83157008 {source="DOID:0050433", source="MONDO:equivalentTo"}
xref: UMLS:C0206042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104768"}
is_a: MONDO:0005429 {source="DOID:0050433", source="MESH:D034062", source="MONDO:Redundant", source="MONDO:indirect"} ! prion disease
is_a: MONDO:0013600 {source="MESH:D034062", source="NCIT:C84711"} ! insomnia
is_a: MONDO:0024237 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia" xsd:anyURI {source="GARD:0006429"}

[Term]
id: MONDO:0010809
name: familial chronic myelocytic leukemia-like syndrome
def: "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)." [DOID:0060761, PMID:8086739]
subset: gard_rare {source="GARD:10141", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CML-like syndrome, familial" RELATED [OMIM:600080]
synonym: "familial CML-like syndrome" EXACT [DOID:0060761]
synonym: "myelocytic leukemia-like syndrome, familial, chronic" RELATED [OMIM:600080]
xref: DOID:0060761 {source="MONDO:equivalentTo"}
xref: GARD:10141 {source="MONDO:GARD"}
xref: MEDGEN:325075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536093 {source="MONDO:equivalentTo"}
xref: OMIM:600080 {source="DOID:0060761", source="MONDO:equivalentTo"}
xref: UMLS:C1838670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325075"}
is_a: MONDO:0011996 {source="DOID:0060761"} ! chronic myelogenous leukemia, BCR-ABL1 positive
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic" xsd:anyURI {source="GARD:0010141"}

[Term]
id: MONDO:0010810
name: vitamin D hydroxylation-deficient rickets, type 1B
def: "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets." [NCIT:C131074]
subset: gard_rare {source="GARD:18415", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:600081]
synonym: "CYP2R1 vitamin D-dependent rickets, type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency" RELATED [OMIM:600081]
synonym: "rickets due to defect in vitamin D 25-hydroxylation deficiency" EXACT [OMIM:600081, OMIM:genemap2]
synonym: "VDDR1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600081]
synonym: "Vitam D hydroxylation-deficient rickets type 1b" EXACT [NCIT:C131074]
synonym: "vitamin D 25-Hydroxylase deficiency" EXACT [NCIT:C131074]
synonym: "vitamin D hydroxylation-deficient rickets type 1b" EXACT [NCIT:C131074]
synonym: "vitamin D hydroxylation-deficient rickets, type 1B" EXACT [MONDO:Lexical, OMIM:600081]
synonym: "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1" EXACT [MONDO:design_pattern]
synonym: "vitamin D-dependent rickets, type 1B" RELATED [OMIM:600081]
xref: DOID:0080887 {source="MONDO:equivalentTo"}
xref: GARD:18415 {source="MONDO:GARD"}
xref: MEDGEN:374020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564005 {source="MONDO:equivalentTo"}
xref: NCIT:C131074 {source="MONDO:equivalentTo"}
xref: OMIM:600081 {source="MONDO:equivalentTo"}
xref: Orphanet:289157 {source="OMIM:600081"}
xref: UMLS:C1838657 {source="MEDGEN:374020", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009924 {source="MONDO:Redundant", source="Orphanet:289157/btnt"} ! vitamin D-dependent rickets, type 1
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0009924 ! vitamin D-dependent rickets, type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20580 ! CYP2R1
relationship: disease_has_basis_in_disruption_of GO:0030343 ! vitamin D3 25-hydroxylase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20580 {source="MONDO:mim2gene_medgen"} ! CYP2R1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010811
name: benign prostatic hyperplasia
def: "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." [NCIT:C2897]
subset: otar {source="MONDO:OTAR"}
synonym: "benign hyperplasia of prostate" EXACT [NCIT:C2897]
synonym: "benign hyperplasia of the prostate" EXACT [NCIT:C2897]
synonym: "benign prostate hyperplasia" EXACT [NCIT:C2897]
synonym: "benign prostatic hyperplasia" EXACT [MONDO:ambiguous]
synonym: "benign prostatic hyperplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "benign prostatic hyperplasia - BPH" EXACT [NCIT:C2897]
synonym: "benign prostatic Hypertrophy" EXACT [NCIT:C2897]
synonym: "benign prostatic hypertrophy" EXACT [NCIT:C2897]
synonym: "BPH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600082]
synonym: "prostate hypertrophy" BROAD []
synonym: "prostatic hyperplasia, benign" RELATED [MONDO:Lexical, OMIM:600082]
synonym: "prostatic hypertrophy" BROAD []
xref: DOID:11132 {source="EFO:0000284", source="MONDO:equivalentTo"}
xref: DOID:2883 {source="EFO:0000284", source="MONDO:directSiblingOf"}
xref: EFO:0000284 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0008711 {source="MONDO:otherHierarchy"}
xref: ICD9:600 {source="EFO:0000284"}
xref: ICD9:600.0 {source="EFO:0000284"}
xref: ICD9:600.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:312369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011470 {source="EFO:0000284", source="MONDO:equivalentTo"}
xref: NCIT:C2897 {source="EFO:0000284", source="MONDO:equivalentTo"}
xref: OMIM:600082 {source="EFO:0000284", source="MONDO:equivalentTo"}
xref: SCTID:266569009 {source="EFO:0000284", source="MONDO:equivalentTo"}
xref: UMLS:C1704272 {source="MEDGEN:312369", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003105 {source="DOID:11132", source="MESH:D011470", source="MONDO:Redundant"} ! prostate disorder
is_a: MONDO:0005043 {source="EFO:0000284", source="MONDO:Redundant", source="NCIT:C2897"} ! hyperplasia
intersection_of: MONDO:0005043 ! hyperplasia
intersection_of: disease_has_location UBERON:0002367 ! prostate gland
relationship: disease_has_location UBERON:0002367 {source="EFO:0000784"} ! prostate gland
property_value: IAO:0000589 "benign prostatic hyperplasia (disease)" xsd:string

[Term]
id: MONDO:0010812
name: macrocytosis, familial
synonym: "macrocytosis, familial" EXACT [OMIM:600084]
xref: MEDGEN:333150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564004 {source="MONDO:equivalentTo"}
xref: OMIM:600084 {source="MONDO:equivalentTo"}
xref: UMLS:C1838656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333150"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010813
name: pancreatic beta cell agenesis with neonatal diabetes mellitus
subset: otar {source="MONDO:OTAR"}
synonym: "diabetes mellitus, insulin-dependent, neonatal" EXACT [OMIM:600089, OMIM:genemap2]
synonym: "pancreatic beta cell agenesis with neonatal diabetes mellitus" EXACT [OMIM:600089]
xref: MEDGEN:325072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538111 {source="MONDO:equivalentTo"}
xref: OMIM:600089 {source="MONDO:equivalentTo"}
xref: Orphanet:28455 {source="OMIM:600089", source="MONDO:equivalentObsolete"}
xref: UMLS:C1838655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325072"}
is_a: MONDO:0003847 {source="Orphanet:28455/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010814
name: chondrodysplasia-pseudohermaphroditism syndrome
def: "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." [Orphanet:1422]
subset: gard_rare {source="GARD:16565", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1422"}
subset: ordo_malformation_syndrome {source="Orphanet:1422"}
subset: orphanet_rare {source="Orphanet:1422"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [DOID:0060644]
synonym: "chondrodysplasia-pseudohermaphroditism syndrome" EXACT [OMIM:600092, Orphanet:1422]
synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [DOID:0060644, Orphanet:1422]
xref: DOID:0060644 {source="MONDO:equivalentTo"}
xref: GARD:16565 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1422/attributed", source="Orphanet:1422/ntbt", source="Orphanet:1422", source="DOID:0060644"}
xref: MEDGEN:333149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536123 {source="MONDO:equivalentTo"}
xref: OMIM:600092 {source="Orphanet:1422", source="DOID:0060644", source="MONDO:equivalentTo", source="Orphanet:1422/e"}
xref: Orphanet:1422 {source="DOID:0060644", source="MONDO:equivalentTo", source="OMIM:600092"}
xref: SCTID:720851007 {source="MONDO:equivalentTo"}
xref: UMLS:C1838654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333149"}
is_a: MONDO:0002254 {source="DOID:0060644"} ! syndromic disease
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0020040 ! 46,XY disorder of sex development
is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:1422", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0010815
name: spondyloepiphyseal dysplasia tarda with characteristic facies
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "spondyloepiphyseal dysplasia tarda with characteristic facies" EXACT [OMIM:600093]
xref: DOID:0112289 {source="MONDO:equivalentTo"}
xref: MEDGEN:325071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564003 {source="MONDO:equivalentTo"}
xref: OMIM:600093 {source="MONDO:equivalentTo"}
xref: UMLS:C1838653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325071"}
is_a: MONDO:0003847 {source="MESH:C564003/inferred"} ! hereditary disease
is_a: MONDO:0019667 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia tarda

[Term]
id: MONDO:0010816
name: Qazi Markouizos syndrome
def: "Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." [Orphanet:3010]
subset: gard_rare {source="GARD:371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3010"}
subset: orphanet_rare {source="Orphanet:3010"}
subset: rare
synonym: "Dysharmonic skeletal maturation - muscular fiber disproportion" EXACT [DOID:0050740]
synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT OMO:0003005 []
synonym: "Dysharmonic skeletal maturation muscular fiber disproportion" RELATED [GARD:0000371]
synonym: "Dysharmonic skeletal maturation muscular fibre disproportion" RELATED OMO:0003005 []
synonym: "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome" EXACT [Orphanet:3010]
synonym: "Dysharmonic skeletal maturation-muscular fibre disproportion syndrome" EXACT OMO:0003005 []
synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fiber type disproportion" RELATED [GARD:0000371]
synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion" RELATED OMO:0003005 []
synonym: "PUERTO RICAN infant hypotonia syndrome" RELATED [OMIM:600096]
synonym: "Puertorican infant hypotonia syndrome" RELATED [GARD:0000371]
synonym: "Qazi-Markouizos syndrome" EXACT [DOID:0050740]
xref: DOID:0050740 {source="MONDO:equivalentTo"}
xref: GARD:371 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3010/attributed", source="Orphanet:3010/ntbt", source="Orphanet:3010"}
xref: MEDGEN:443987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536259 {source="Orphanet:3010/e", source="MONDO:equivalentTo", source="Orphanet:3010"}
xref: OMIM:600096 {source="DOID:0050740", source="Orphanet:3010/e", source="MONDO:equivalentTo", source="Orphanet:3010"}
xref: Orphanet:3010 {source="MONDO:equivalentTo", source="OMIM:600096"}
xref: SCTID:721887007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443987"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: disease_has_feature HP:0001252 ! Hypotonia
relationship: disease_has_feature HP:0005832 ! Dysharmonic delayed bone age
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3010", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome" xsd:anyURI {source="GARD:0000371"}

[Term]
id: MONDO:0010817
name: autosomal dominant nonsyndromic hearing loss 2A
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18099", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant deafness 2A" NARROW [DOID:0110558]
synonym: "autosomal dominant nonsyndromic deafness 2A" NARROW [OMIM:600101]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 2A" NARROW [DOID:0110558, MONDORULE:4]
synonym: "deafness, autosomal dominant 2A" NARROW [MONDO:Lexical, OMIM:600101]
synonym: "deafness, autosomal dominant 2a" NARROW [OMIM:600101, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 2A" NARROW [MONDORULE:4, OMIM:600101]
synonym: "DFNA2A" NARROW ABBREVIATION [DOID:0110558, MONDO:Lexical, OMIM:600101]
synonym: "KCNQ4 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110558 {source="MONDO:equivalentTo"}
xref: GARD:18099 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110558"}
xref: MEDGEN:436997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567441 {source="MONDO:equivalentTo"}
xref: OMIM:600101 {source="DOID:0110558", source="MONDO:equivalentTo"}
xref: UMLS:C2677637 {source="MEDGEN:436997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:600101", source="DOID:0110558", source="MONDO:Redundant", source="OMIM:600101"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6298 ! KCNQ4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6298 {source="MONDO:mim2gene_medgen"} ! KCNQ4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010818
name: retinitis pigmentosa 12
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CRB1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 12" EXACT [MONDO:Lexical, OMIM:600105]
synonym: "retinitis pigmentosa caused by mutation in CRB1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 12" EXACT [DOID:0110358, MONDORULE:2, OMIM:600105]
synonym: "retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium" RELATED [OMIM:600105]
synonym: "retinitis pigmentosa-12" EXACT [OMIM:600105, OMIM:genemap2]
synonym: "RP 12" RELATED [GARD:0010376]
synonym: "RP with or without Pprpe" RELATED [OMIM:600105]
synonym: "RP with or without preserved Paraarteriole retinal pigment epithelium" RELATED [OMIM:600105]
synonym: "RP12" EXACT ABBREVIATION [DOID:0110358, MONDO:Lexical, OMIM:600105]
xref: DOID:0110358 {source="MONDO:equivalentTo"}
xref: GARD:10376 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110358", source="MONDO:relatedTo"}
xref: MEDGEN:374019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563999 {source="MONDO:equivalentTo"}
xref: OMIM:600105 {source="DOID:0110358", source="MONDO:equivalentTo"}
xref: UMLS:C1838647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374019"}
is_a: MONDO:0019200 {source="DC-OMIM:600105", source="DOID:0110358", source="MESH:C563999", source="MONDO:Redundant", source="OMIM:600105"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 ! CRB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 {source="MONDO:mim2gene_medgen"} ! CRB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10376/retinitis-pigmentosa-12" xsd:anyURI {source="GARD:0010376"}

[Term]
id: MONDO:0010819
name: Stargardt disease 3
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15314", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "macular dystrophy with flecks, type 3" RELATED [OMIM:600110]
synonym: "Stargardt disease 3" EXACT [MONDO:Lexical, OMIM:600110]
synonym: "Stargardt disease type 3" EXACT [MONDORULE:1, OMIM:600110]
synonym: "Stargardt-like macular dystrophy, autosomal dominant" RELATED [OMIM:600110]
synonym: "STGD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600110]
xref: GARD:15314 {source="MONDO:GARD"}
xref: MEDGEN:333146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535805 {source="MONDO:equivalentTo"}
xref: OMIM:600110 {source="MONDO:equivalentTo"}
xref: Orphanet:827 {source="OMIM:600110"}
xref: UMLS:C1838644 {source="MEDGEN:333146", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019353 {source="DC-OMIM:600110"} ! Stargardt disease
is_a: MONDO:0700227 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! ELOVL4-related maculopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14415 {source="OMIM:600110"} ! ELOVL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0010820
name: autosomal recessive juvenile Parkinson disease 2
def: "A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia." [MESH:D020734]
subset: gard_rare {source="GARD:9642", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive juvenile Parkinson disease" RELATED [GARD:0009642]
synonym: "autosomal recessive juvenile Parkinson disease 2" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive juvenile Parkinson disease type 2" EXACT [DOID:0060368, MONDORULE:1]
synonym: "autosomal recessive juvenile Parkinson's disease 2" RELATED [DOID:0060368]
synonym: "JP" RELATED ABBREVIATION [GARD:0009642]
synonym: "juvenile parkinsonism" RELATED [GARD:0009642]
synonym: "PARK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600116]
synonym: "Parkinson disease 2" RELATED [GARD:0009642]
synonym: "Parkinson disease 2, autosomal recessive juvenile" RELATED [MONDO:Lexical, OMIM:600116]
synonym: "Parkinson disease autosomal recessive, early onset" RELATED [GARD:0009642]
synonym: "Parkinson disease, juvenile, autosomal recessive" RELATED [OMIM:600116]
synonym: "Parkinson disease, juvenile, type 2" EXACT [OMIM:600116, OMIM:genemap2]
synonym: "Parkinsonism, early onset, with diurnal fluctuation" RELATED [GARD:0009642]
synonym: "Parkinsonism, early-onset, with diurnal fluctuation" RELATED [OMIM:600116]
synonym: "PDJ" RELATED ABBREVIATION [GARD:0009642]
synonym: "PRKN young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "young-onset Parkinson disease caused by mutation in PRKN" EXACT [MONDO:design_pattern]
xref: DOID:0060368 {source="MONDO:equivalentTo"}
xref: GARD:9642 {source="MONDO:GARD"}
xref: MEDGEN:401500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020734
xref: OMIM:600116 {source="MONDO:equivalentTo", source="DOID:0060368"}
xref: Orphanet:2828 {source="OMIM:600116"}
xref: UMLS:C1868675 {source="MEDGEN:401500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DOID:0060368/inferred", source="MONDO:Redundant", source="OMIM:600116"} ! Parkinson disease
is_a: MONDO:0017279 {source="MONDO:Redundant", source="Orphanet:2828/btnt"} ! young-onset Parkinson disease
intersection_of: MONDO:0017279 ! young-onset Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8607 ! PRKN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8607 {source="MONDO:mim2gene_medgen"} ! PRKN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010821
name: familial developmental dysphasia
def: "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal." [Orphanet:1799]
subset: gard_rare {source="GARD:1823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:1799"}
subset: ordo_disorder {source="Orphanet:1799"}
subset: orphanet_rare {source="Orphanet:1799"}
subset: rare
synonym: "Billard-Toutain-Maheut syndrome" EXACT [Orphanet:1799]
synonym: "developmental dysphasia familial" RELATED [GARD:0001823]
synonym: "developmental language disorder" RELATED [GARD:0001823]
synonym: "dysphasia, familial developmental" RELATED [OMIM:600117]
synonym: "FOXP2-associated dysphasia" EXACT [Orphanet:1799]
synonym: "specific language impairment" RELATED [GARD:0001823]
xref: GARD:1823 {source="MONDO:GARD"}
xref: ICD10CM:F80.1 {source="MONDO:relatedTo", source="Orphanet:1799", source="Orphanet:1799/ntbt"}
xref: MEDGEN:374015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563997 {source="MONDO:equivalentTo"}
xref: OMIM:600117 {source="MONDO:equivalentTo", source="Orphanet:1799", source="Orphanet:1799/e"}
xref: Orphanet:1799 {source="MONDO:equivalentTo", source="GARD:0001823", source="OMIM:600117"}
xref: SCTID:721220004 {source="MONDO:equivalentTo"}
xref: UMLS:C1838630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374015"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0016226 {source="Orphanet:1799"} ! specific language disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1823/developmental-dysphasia-familial" xsd:anyURI {source="GARD:0001823"}

[Term]
id: MONDO:0010822
name: Warburg micro syndrome 1
def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "micro syndrome" RELATED [OMIM:600118]
synonym: "micro syndrome 1" EXACT [DOID:0110716]
synonym: "RAB3GAP1 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WARBM1" EXACT ABBREVIATION [DOID:0110716, MONDO:Lexical, OMIM:600118]
synonym: "WARBURG micro syndrome 1" RELATED [OMIM:600118]
synonym: "Warburg micro syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600118]
synonym: "Warburg micro syndrome caused by mutation in RAB3GAP1" EXACT [MONDO:design_pattern]
synonym: "Warburg micro syndrome type 1" EXACT [DOID:0110716, MONDORULE:1, OMIM:600118]
xref: DOID:0110716 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q87.0 {source="DOID:0110716"}
xref: MEDGEN:333142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600118 {source="DOID:0110716", source="MONDO:equivalentTo"}
xref: Orphanet:2510 {source="OMIM:600118"}
xref: UMLS:C1838625 {source="MEDGEN:333142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016649 {source="DC-OMIM:600118", source="DOID:0110716", source="MONDO:Redundant", source="OMIM:600118"} ! Warburg micro syndrome
intersection_of: MONDO:0016649 ! Warburg micro syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17063 ! RAB3GAP1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600118"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17063 {source="MONDO:mim2gene_medgen"} ! RAB3GAP1

[Term]
id: MONDO:0010823
name: rhizomelic chondrodysplasia punctata type 3
def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:309803"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309803"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGPS deficiency" BROAD [DOID:0110853]
synonym: "AGPS rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "alkyldihydroxyacetonephosphate synthase deficiency" BROAD [DOID:0110853, OMIM:600121]
synonym: "alkylglycerone-phosphate synthase deficiency" BROAD [DOID:0110853, GARD:0009682, OMIM:600121]
synonym: "RCDP3" EXACT ABBREVIATION [DOID:0110853, MONDO:Lexical, OMIM:600121]
synonym: "rhizomelic chondrodysplasia punctata caused by mutation in AGPS" EXACT [MONDO:design_pattern]
synonym: "rhizomelic chondrodysplasia punctata type 3" EXACT CLINGEN_LABEL [OMIM:600121]
synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, MONDO:Lexical, OMIM:600121]
xref: DOID:0110853 {source="MONDO:equivalentTo"}
xref: GARD:9682 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="DOID:0110853", source="Orphanet:309803", source="Orphanet:309803/attributed", source="Orphanet:309803/ntbt"}
xref: MEDGEN:374012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537608 {source="MONDO:equivalentTo"}
xref: NANDO:1200772 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:600121 {source="DOID:0110853", source="Orphanet:309803", source="MONDO:equivalentTo", source="Orphanet:309803/e"}
xref: Orphanet:177 {source="OMIM:600121"}
xref: Orphanet:309803 {source="DOID:0110853", source="OMIM:600121", source="MONDO:equivalentTo"}
xref: UMLS:C1838612 {source="MONDO:equivalentTo", source="MEDGEN:374012", source="MONDO:MEDGEN"}
is_a: MONDO:0015776 {source="DC-OMIM:600121", source="DOID:0110853", source="MESH:C537608", source="MONDO:Redundant", source="OMIM:600121", source="Orphanet:309803"} ! rhizomelic chondrodysplasia punctata
is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata
is_a: MONDO:0100274 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! alkylglycerone-phosphate synthase deficiency
intersection_of: MONDO:0015776 ! rhizomelic chondrodysplasia punctata
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/327 ! AGPS
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/327 {source="MONDO:mim2gene_medgen"} ! AGPS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3" xsd:anyURI {source="GARD:0009682"}

[Term]
id: MONDO:0010824
name: disorder of sex development-intellectual disability syndrome
def: "A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994." [Orphanet:2983]
subset: gard_rare {source="GARD:4550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2983"}
subset: orphanet_rare {source="Orphanet:2983"}
subset: rare
synonym: "disorder of sex development intellectual disability" RELATED [GARD:0004550]
synonym: "Male pseudohermaphroditism intellectual disability syndrome, Verloes type" RELATED [GARD:0004550]
synonym: "male pseudohermaphroditism/intellectual disability syndrome, Verloes type" RELATED [OMIM:600122]
synonym: "male pseudohermaphroditism/mental retardation syndrome, Verloes type" RELATED DEPRECATED [OMIM:600122]
synonym: "pseudohermaphroditism-intellectual disability syndrome" EXACT [Orphanet:2983]
synonym: "Verloes Gillerot Fryns syndrome" RELATED [GARD:0004550]
synonym: "Verloes syndrome" RELATED [OMIM:600122]
synonym: "Verloes-Gillerot-Fryns syndrome" EXACT [Orphanet:2983]
xref: GARD:4550 {source="MONDO:GARD"}
xref: ICD10CM:Q56.3 {source="Orphanet:2983/attributed", source="Orphanet:2983/ntbt", source="Orphanet:2983"}
xref: MEDGEN:325469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535693 {source="MONDO:equivalentTo"}
xref: OMIM:600122 {source="Orphanet:2983", source="MONDO:equivalentTo", source="Orphanet:2983/e"}
xref: Orphanet:2983 {source="OMIM:600122", source="MONDO:equivalentTo"}
xref: SCTID:719450007 {source="MONDO:equivalentTo"}
xref: UMLS:C1838611 {source="MONDO:equivalentTo", source="MEDGEN:325469", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0020040 ! 46,XY disorder of sex development
is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2983", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010825
name: atrioventricular defect-blepharophimosis-radial and anal defect syndrome
def: "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." [Orphanet:1352]
subset: gard_rare {source="GARD:2742", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1352"}
subset: ordo_malformation_syndrome {source="Orphanet:1352"}
subset: orphanet_rare {source="Orphanet:1352"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrioventricular septal defect with blepharophimosis and anal and radial defects" RELATED [OMIM:600123]
synonym: "Houlston-Ironton-Temple syndrome" EXACT [Orphanet:1352]
xref: GARD:2742 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1352", source="Orphanet:1352/attributed", source="Orphanet:1352/ntbt"}
xref: MEDGEN:374010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563994 {source="MONDO:equivalentTo"}
xref: OMIM:600123 {source="Orphanet:1352", source="MONDO:equivalentTo", source="Orphanet:1352/e"}
xref: Orphanet:1352 {source="OMIM:600123", source="MONDO:equivalentTo"}
xref: UMLS:C1838606 {source="MEDGEN:374010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015161 {source="Orphanet:1352"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0010826
name: childhood absence epilepsy
def: "A familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis." [Orphanet:64280]
subset: gard_rare {source="GARD:16667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64280"}
subset: orphanet_rare {source="Orphanet:64280"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "absence seizure" RELATED [DOID:1825]
synonym: "early onset absence epilepsy" EXACT [DOID:0050708]
synonym: "petit mal seizure" RELATED [DOID:1825]
synonym: "pyknolepsy" EXACT [DOID:1825, Orphanet:64280]
xref: DOID:0050708 {source="MONDO:equivalentTo"}
xref: DOID:1825 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:16667 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:64280/inclusion", source="Orphanet:64280", source="Orphanet:64280/ntbt"}
xref: ICD10CM:G40.A {source="DOID:1825"}
xref: icd11.foundation:726403046 {source="MONDO:equivalentTo", source="Orphanet:64280"}
xref: MEDGEN:924120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004832 {source="DOID:1825"}
xref: NCIT:C3023 {source="DOID:1825"}
xref: NCIT:C50436 {source="MONDO:otherHierarchy", source="DOID:1825"}
xref: OMIMPS:600131 {source="MONDO:equivalentTo"}
xref: Orphanet:64280 {source="OMIM:600131", source="MONDO:equivalentTo"}
xref: SCTID:140805008 {source="DOID:1825"}
xref: SCTID:155037000 {source="DOID:1825"}
xref: SCTID:163596002 {source="DOID:1825"}
xref: SCTID:16757004 {source="DOID:1825"}
xref: SCTID:192980007 {source="DOID:1825"}
xref: SCTID:192983009 {source="DOID:1825"}
xref: SCTID:230413002 {source="MONDO:relatedTo", source="DOID:1825"}
xref: SCTID:432241000124101 {source="DOID:1825"}
xref: SCTID:50866000 {source="MONDO:equivalentTo", source="DOID:1825"}
xref: SCTID:79631006 {source="DOID:1825"}
xref: UMLS:C4281785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924120"}
is_a: MONDO:0000414 {source="DOID:0050708", source="DOID:1825"} ! childhood electroclinical syndrome
is_a: MONDO:0020072 {source="Orphanet:64280/inferred", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
is_a: MONDO:0850093 {source="DOID:0050708"} ! absence epilepsy
relationship: disease_has_feature HP:0002121 ! Generalized non-motor (absence) seizure
relationship: disease_has_feature HP:0011147 ! Typical absence seizure
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600131"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7360" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/cae-overview.html" xsd:anyURI

[Term]
id: MONDO:0010827
name: retinitis pigmentosa 14
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 14" EXACT [MONDO:Lexical, OMIM:600132]
synonym: "retinitis pigmentosa caused by mutation in TULP1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 14" EXACT [DOID:0110381, MONDORULE:2, OMIM:600132]
synonym: "RP 14" RELATED [GARD:0010385]
synonym: "RP14" EXACT ABBREVIATION [DOID:0110381, MONDO:Lexical, OMIM:600132]
synonym: "TULP1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110381 {source="MONDO:equivalentTo"}
xref: GARD:10385 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110381"}
xref: MEDGEN:325056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600132 {source="DOID:0110381", source="MONDO:equivalentTo"}
xref: UMLS:C1838603 {source="MEDGEN:325056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:600132", source="DOID:0110381", source="MONDO:Redundant", source="OMIM:600132"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12423 ! TULP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12423 {source="MONDO:mim2gene_medgen"} ! TULP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10385/retinitis-pigmentosa-14" xsd:anyURI {source="GARD:0010385"}

[Term]
id: MONDO:0010828
name: retinitis pigmentosa 11
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10383", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PRPF31 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 11" EXACT [MONDO:Lexical, OMIM:600138]
synonym: "retinitis pigmentosa caused by mutation in PRPF31" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 11" EXACT [DOID:0110408, MONDORULE:2, OMIM:600138]
synonym: "RP 11" RELATED [GARD:0010383]
synonym: "RP11" EXACT ABBREVIATION [DOID:0110408, MONDO:Lexical, OMIM:600138]
xref: DOID:0110408 {source="MONDO:equivalentTo"}
xref: GARD:10383 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110408"}
xref: MEDGEN:325055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563991 {source="MONDO:equivalentTo"}
xref: OMIM:600138 {source="DOID:0110408", source="MONDO:equivalentTo"}
xref: UMLS:C1838601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325055"}
is_a: MONDO:0019200 {source="DC-OMIM:600138", source="DOID:0110408", source="MESH:C563991", source="MONDO:Redundant", source="OMIM:600138"} ! retinitis pigmentosa
is_a: MONDO:0800395 {source="https://clinicalgenome.org/affiliation/40072/"} ! PRPF31-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15446 ! PRPF31
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15446 {source="MONDO:mim2gene_medgen"} ! PRPF31
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10383/retinitis-pigmentosa-11" xsd:anyURI {source="GARD:0010383"}

[Term]
id: MONDO:0010829
name: CARASIL syndrome
def: "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." [Orphanet:199354]
subset: gard_rare {source="GARD:10424", source="MONDO:GARD"}
subset: nord_rare {source="NORD:888", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199354"}
subset: orphanet_rare {source="Orphanet:199354"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CARASIL" EXACT ABBREVIATION [MONDO:Lexical, NORD:888, OMIM:600142]
synonym: "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:600142]
synonym: "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [Orphanet:199354]
synonym: "cerebrovascular disease with thin skin, alopecia, and disc disease" RELATED OMO:0003005 []
synonym: "cerebrovascular disease with thin skin, alopecia, and disk disease" RELATED [OMIM:600142]
synonym: "Maeda syndrome" EXACT [OMIM:600142, Orphanet:199354]
synonym: "subcortical vascular encephalopathy, progressive" RELATED [OMIM:600142]
xref: GARD:10424 {source="MONDO:GARD"}
xref: ICD10CM:F01.1 {source="Orphanet:199354", source="Orphanet:199354/attributed", source="Orphanet:199354/ntbt"}
xref: icd11.foundation:984450655 {source="Orphanet:199354", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:325051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563990 {source="MONDO:equivalentTo"}
xref: NANDO:1200544 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:888 {source="MONDO:NORD"}
xref: OMIM:600142 {source="Orphanet:199354", source="MONDO:equivalentTo", source="Orphanet:199354/e"}
xref: Orphanet:199354 {source="OMIM:600142", source="MONDO:equivalentTo"}
xref: SCTID:390723008 {source="DOID:13945"}
xref: SCTID:703219008 {source="MONDO:equivalentTo"}
xref: UMLS:C1838577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325051"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0007432 {source="OMIM:600142"} ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 {source="MONDO:mim2gene_medgen"} ! HTRA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0010830
name: neuronal ceroid lipofuscinosis 8
def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17152", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228354"}
subset: ordo_etiological_subtype {source="Orphanet:228354"}
subset: orphanet_rare {source="Orphanet:228354"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 8" RELATED [MONDO:Lexical, OMIM:600143]
synonym: "ceroid lipofuscinosis, neuronal, type 8" EXACT [MONDORULE:1, OMIM:600143]
synonym: "CLN8" EXACT ABBREVIATION [DOID:0110723, MONDO:Lexical, OMIM:600143]
synonym: "CLN8 disease" RELATED [Orphanet:228354]
synonym: "CLN8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronal ceroid lipofuscinosis 8" EXACT CLINGEN_LABEL []
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN8" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 8" EXACT [DOID:0110723, MONDORULE:1]
xref: DOID:0110723 {source="MONDO:equivalentTo"}
xref: GARD:17152 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110723", source="Orphanet:228354/attributed", source="Orphanet:228354/ntbt", source="Orphanet:228354"}
xref: MEDGEN:374004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537952 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:600143 {source="DOID:0110723", source="Orphanet:228354/e", source="MONDO:equivalentTo", source="Orphanet:228354"}
xref: Orphanet:168491 {source="OMIM:600143"}
xref: Orphanet:228354 {source="OMIM:600143", source="DOID:0110723", source="MONDO:equivalentTo"}
xref: Orphanet:79264 {source="OMIM:600143"}
xref: SCTID:703526007 {source="MONDO:equivalentTo"}
xref: UMLS:C1838570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374004"}
is_a: MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228354"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0016295 {source="DOID:0110723", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:600143", source="Orphanet:228354/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="Orphanet:228354", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2079 ! CLN8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2079 {source="MONDO:mim2gene_medgen"} ! CLN8

[Term]
id: MONDO:0010831
name: familial caudal dysgenesis
def: "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies." [Orphanet:1768]
subset: gard_rare {source="GARD:215", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1768"}
subset: ordo_malformation_syndrome {source="Orphanet:1768"}
subset: orphanet_rare {source="Orphanet:1768"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "caudal dysgenesis familial type" RELATED [GARD:0000215]
synonym: "caudal dysgenesis syndrome" RELATED [GARD:0004751, OMIM:600145]
synonym: "caudal regression" EXACT [NCIT:C99054]
synonym: "caudal regression syndrome" RELATED [OMIM:600145]
synonym: "familial caudal dysgenesis" EXACT [GARD:0004751]
synonym: "Rudd-Klimek syndrome" EXACT [GARD:0000215, GARD:0004751, Orphanet:1768]
synonym: "sacral agenesis" RELATED [OMIM:600145]
synonym: "sacral defect with anterior meningocele" RELATED [OMIM:600145]
synonym: "SDAM" RELATED ABBREVIATION [GARD:0004751]
synonym: "Sdam" RELATED [OMIM:600145]
synonym: "sirenomelia" RELATED [OMIM:600145]
xref: GARD:215 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1768/attributed", source="Orphanet:1768/ntbt", source="Orphanet:1768"}
xref: MEDGEN:418973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99054 {source="MONDO:equivalentTo"}
xref: OMIM:600145 {source="GARD:0004751", source="MONDO:equivalentTo"}
xref: Orphanet:1768 {source="GARD:0004751", source="OMIM:600145", source="GARD:0000215", source="MONDO:equivalentTo"}
xref: Orphanet:3027 {source="OMIM:600145"}
xref: Orphanet:3169 {source="OMIM:600145"}
xref: SCTID:722493007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418973"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99054"} ! syndromic disease
is_a: MONDO:0018639 {source="Orphanet:1768"} ! caudal regression-sirenomelia spectrum
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15512 {source="MONDO:mim2gene_medgen"} ! VANGL1

[Term]
id: MONDO:0010832
name: Bardet-Biedl syndrome 3
subset: gard_rare {source="GARD:822", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600151]
synonym: "Bardet-Biedl syndrome type 3" EXACT [DOID:0110125, MONDORULE:1, OMIM:600151]
synonym: "BBS3" EXACT ABBREVIATION [DOID:0110125, MONDO:Lexical, OMIM:600151]
xref: DOID:0110125 {source="MONDO:equivalentTo"}
xref: GARD:822 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110125"}
xref: MEDGEN:347179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537911 {source="MONDO:equivalentTo"}
xref: OMIM:600151 {source="MONDO:equivalentTo", source="DOID:0110125"}
xref: Orphanet:110 {source="OMIM:600151"}
xref: UMLS:C1859564 {source="MEDGEN:347179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:600151", source="DOID:0110125", source="MESH:C537911", source="OMIM:600151"} ! Bardet-Biedl syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600151"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13210 {source="MONDO:mim2gene_medgen"} ! ARL6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3" xsd:anyURI {source="GARD:0000822"}

[Term]
id: MONDO:0010833
name: Hirschsprung disease, susceptibility to, 2
def: "An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "EDNRB Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hirschsprung disease caused by mutation in EDNRB" EXACT [MONDO:design_pattern]
synonym: "Hirschsprung disease type 2" RELATED [GARD:0002698]
synonym: "Hirschsprung disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:600155]
synonym: "Hirschsprung disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:600155]
synonym: "HSCR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600155]
synonym: "susceptibility to Hirschsprung disease 2" RELATED [OMIM:600155]
xref: MEDGEN:374002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600155 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:600155"}
xref: UMLS:C1838564 {source="MEDGEN:374002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100179 {source="DC-OMIM:600155", source="MONDO:Redundant", source="OMIM:600155"} ! Hirschsprung disease, susceptibility to
intersection_of: MONDO:0100179 ! Hirschsprung disease, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 ! EDNRB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 {source="MONDO:mim2gene_medgen"} ! EDNRB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2698/hirschsprung-disease-type-2" xsd:anyURI {source="GARD:0002698"}

[Term]
id: MONDO:0010834
name: Hirschsprung disease, susceptibility to, 5
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:600156]
synonym: "HSCR5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600156]
xref: MEDGEN:410137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600156 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:600156"}
xref: UMLS:C1970723 {source="MEDGEN:410137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0010835
name: pterygium colli-intellectual disability-digital anomalies syndrome
def: "Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant." [Orphanet:2988]
subset: gard_rare {source="GARD:4568", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2988"}
subset: ordo_malformation_syndrome {source="Orphanet:2988"}
subset: orphanet_rare {source="Orphanet:2988"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "khalifa-Graham syndrome" EXACT [Orphanet:2988]
synonym: "pterygium colli and intellectual disability with facial and digital anomalies" RELATED [OMIM:600159]
synonym: "pterygium colli and mental retardation with facial and digital anomalies" RELATED DEPRECATED [OMIM:600159]
synonym: "pterygium colli intellectual disability digital anomalies" RELATED [GARD:0004568]
synonym: "pterygium colli mental retardation digital anomalies" RELATED DEPRECATED [GARD:0004568]
xref: GARD:4568 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2988", source="Orphanet:2988/attributed", source="Orphanet:2988/ntbt"}
xref: MEDGEN:374001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535831 {source="MONDO:equivalentTo"}
xref: OMIM:600159 {source="MONDO:equivalentTo", source="Orphanet:2988", source="Orphanet:2988/e"}
xref: Orphanet:2988 {source="MONDO:equivalentTo", source="OMIM:600159"}
xref: SCTID:719256004 {source="MONDO:equivalentTo"}
xref: UMLS:C1838562 {source="MONDO:equivalentTo", source="MEDGEN:374001", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2988"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2988", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010836
name: nanophthalmos 1
subset: gard_rare {source="GARD:18625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microphthalmos, simple, autosomal dominant" RELATED [OMIM:600165]
synonym: "Nanophthalmia 1" RELATED [OMIM:600165]
synonym: "nanophthalmos 1" EXACT [MONDO:Lexical, OMIM:600165]
synonym: "nanophthalmos with high hyperopia and angle-closure glaucoma" RELATED [OMIM:600165]
synonym: "nanophthalmos, autosomal dominant" RELATED [OMIM:600165]
synonym: "nanophthalmos-1" EXACT [OMIM:600165, OMIM:genemap2]
synonym: "NNO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600165]
xref: GARD:18625 {source="MONDO:GARD"}
xref: MEDGEN:325037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563983 {source="MONDO:equivalentTo"}
xref: OMIM:600165 {source="MONDO:equivalentTo"}
xref: Orphanet:35612 {source="OMIM:600165"}
xref: UMLS:C1838502 {source="MEDGEN:325037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005514 {source="DC-OMIM:600165"} ! nanophthalmia
is_a: MONDO:0021129 {source="MESH:C563983", source="MONDO:Redundant", source="OMIM:600165", source="Orphanet:35612/btnt"} ! microphthalmia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010837
name: primary hyperparathyroidism
def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." [NCIT:P378]
comment: Editor note: check relationship to parent and familiar form
subset: otar {source="MONDO:OTAR"}
synonym: "familial benign hypercalcemia" RELATED EXCLUDE [DOID:11202]
synonym: "familial primary hyperparathyroidism" RELATED EXCLUDE [DOID:11202]
synonym: "primary hyperparathyroidism" EXACT [MONDO:ambiguous, NCIT:C48280]
synonym: "primary hyperparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11202 {source="MONDO:equivalentTo"}
xref: EFO:0008519 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0008200 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E21.0 {source="DOID:11202"}
xref: ICD9:252.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11202"}
xref: MEDGEN:66354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049950 {source="MONDO:equivalentTo", source="DOID:11202"}
xref: NCIT:C48280 {source="MONDO:equivalentTo", source="DOID:11202"}
xref: Orphanet:99878 {source="MONDO:relatedTo", source="DOID:11202"}
xref: SCTID:190452007 {source="DOID:11202"}
xref: SCTID:237653008 {source="DOID:11202"}
xref: SCTID:36348003 {source="MONDO:equivalentTo", source="DOID:11202"}
xref: SCTID:54920000 {source="DOID:11202"}
xref: UMLS:C0221002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66354"}
is_a: MONDO:0001741 {source="DOID:11202", source="EFO:0008519", source="MESH:D049950", source="MONDO:Redundant", source="NCIT:C48280"} ! hyperparathyroidism
property_value: IAO:0000589 "primary hyperparathyroidism (disease)" xsd:string

[Term]
id: MONDO:0010838
name: gonadal agenesis
def: "A congenital disorder characterized by the complete absence of gonadal tissue." [NCIT:C27228]
comment: See https://github.com/obophenotype/human-phenotype-ontology/issues/3571
synonym: "gonadal agenesis" EXACT [OMIM:600171]
xref: MEDGEN:181797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27228 {source="MONDO:equivalentTo"}
xref: OMIM:600171 {source="MONDO:equivalentTo"}
xref: UMLS:C0949331 {source="MEDGEN:181797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010839
name: neuronopathy, distal hereditary motor, autosomal dominant 8
def: "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated." [Orphanet:1216]
subset: gard_rare {source="GARD:1474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1216"}
subset: orphanet_rare {source="Orphanet:1216"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [Orphanet:1216]
synonym: "autosomal dominant congenital benign spinal muscular atrophy" EXACT [Orphanet:1216]
synonym: "congenital benign spinal muscular atrophy with contractures" EXACT [Orphanet:1216]
synonym: "congenital nonprogressive spinal muscular atrophy" EXACT [Orphanet:1216]
synonym: "HMN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600175]
synonym: "neuronopathy, distal hereditary motor, type 8" RELATED [OMIM:600175]
synonym: "neuronopathy, distal hereditary motor, type VIII" RELATED [MONDO:Lexical, OMIM:600175]
synonym: "neuropathy, distal hereditary motor, type 8" RELATED [OMIM:600175]
synonym: "spinal muscular atrophy, congenital benign, with contractures" RELATED [OMIM:600175]
synonym: "spinal muscular atrophy, distal, congenital nonprogressive" RELATED [OMIM:600175]
xref: DOID:0111215 {source="MONDO:equivalentTo"}
xref: GARD:1474 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:1216", source="Orphanet:1216/attributed", source="Orphanet:1216/ntbt"}
xref: MEDGEN:373984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563981 {source="MONDO:equivalentTo"}
xref: OMIM:600175 {source="MONDO:equivalentTo", source="Orphanet:1216", source="Orphanet:1216/e"}
xref: Orphanet:1216 {source="OMIM:600175", source="MONDO:equivalentTo"}
xref: SCTID:763067000 {source="MONDO:equivalentTo"}
xref: UMLS:C1838492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373984"}
is_a: MONDO:0001516 {source="DC-OMIM:600175", source="MESH:C563981"} ! spinal muscular atrophy
is_a: MONDO:0015362 {source="Orphanet:1216"} ! neuronopathy, distal hereditary motor, autosomal dominant
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4

[Term]
id: MONDO:0010840
name: pachygyria-intellectual disability-epilepsy syndrome
def: "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." [Orphanet:2798]
subset: gard_rare {source="GARD:409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2798"}
subset: ordo_malformation_syndrome {source="Orphanet:2798"}
subset: orphanet_rare {source="Orphanet:2798"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kuzniecky syndrome" EXACT [Orphanet:2798]
synonym: "pachygyria with intellectual disability and seizures" RELATED [OMIM:600176]
synonym: "pachygyria with intellectual disability, seizures, and arachnoid cysts" RELATED [OMIM:600176]
synonym: "pachygyria with mental retardation and seizures" RELATED DEPRECATED [OMIM:600176]
synonym: "pachygyria with mental retardation, seizures, and arachnoid cysts" RELATED DEPRECATED [OMIM:600176]
synonym: "pachygyria, intellectual disability and epilepsy" RELATED [GARD:0000409]
synonym: "pachygyria, mental retardation and epilepsy" RELATED DEPRECATED [GARD:0000409]
xref: GARD:409 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:2798", source="Orphanet:2798/attributed", source="Orphanet:2798/ntbt"}
xref: MEDGEN:333107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538091 {source="MONDO:equivalentTo"}
xref: OMIM:600176 {source="MONDO:equivalentTo", source="Orphanet:2798", source="Orphanet:2798/e"}
xref: Orphanet:2798 {source="OMIM:600176", source="MONDO:equivalentTo"}
xref: SCTID:763861000 {source="MONDO:equivalentTo"}
xref: UMLS:C1838491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333107"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2798", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010841
name: Waardenburg syndrome type 2B
subset: gard_rare {source="GARD:5522", source="MONDO:GARD"}
subset: rare
synonym: "Waardenburg syndrome type IIB" EXACT [DOID:0110947]
synonym: "Waardenburg syndrome, type 2B" RELATED [MONDO:Lexical, OMIM:600193]
synonym: "WS2B" EXACT ABBREVIATION [DOID:0110947, MONDO:Lexical, OMIM:600193]
xref: DOID:0110947 {source="MONDO:equivalentTo"}
xref: GARD:5522 {source="MONDO:GARD"}
xref: MEDGEN:373973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536465 {source="MONDO:equivalentTo"}
xref: OMIM:600193 {source="DOID:0110947", source="MONDO:equivalentTo"}
xref: Orphanet:3440 {source="OMIM:600193"}
xref: Orphanet:895 {source="OMIM:600193"}
xref: UMLS:C1838447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373973"}
is_a: MONDO:0018094 {source="DOID:0110947", source="MONDO:Redundant", source="OMIM:600193"} ! Waardenburg syndrome
is_a: MONDO:0019517 {source="https://orcid.org/0000-0002-6601-2165"} ! Waardenburg syndrome type 2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5522/waardenburg-syndrome-type-2b" xsd:anyURI {source="GARD:0005522"}

[Term]
id: MONDO:0010842
name: multiple cutaneous and mucosal venous malformations
def: "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." [Orphanet:2451]
subset: gard_rare {source="GARD:16600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2451"}
subset: ordo_malformation_syndrome {source="Orphanet:2451"}
subset: orphanet_rare {source="Orphanet:2451"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous and mucosal venous malformation" EXACT [Orphanet:2451]
synonym: "mucocutaneous venous malformations" RELATED [Orphanet:2451]
synonym: "VENOUS malformations, multiple cutaneous and mucosal" RELATED [MONDO:Lexical, OMIM:600195]
synonym: "VMCM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600195, Orphanet:2451]
synonym: "Vmcm1" RELATED [OMIM:600195]
xref: DOID:0050792 {source="MONDO:equivalentTo"}
xref: GARD:16600 {source="MONDO:GARD"}
xref: ICD10CM:Q27.8 {source="Orphanet:2451", source="Orphanet:2451/attributed", source="Orphanet:2451/ntbt"}
xref: MEDGEN:325026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563977 {source="MONDO:equivalentTo"}
xref: OMIM:600195 {source="DOID:0050792", source="Orphanet:2451", source="MONDO:equivalentTo", source="Orphanet:2451/e"}
xref: Orphanet:2451 {source="MONDO:equivalentTo", source="OMIM:600195"}
xref: SCTID:699301008 {source="MONDO:equivalentTo"}
xref: UMLS:C1838437 {source="MEDGEN:325026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0050792", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:600195", source="Orphanet:2451"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11724 {source="MONDO:mim2gene_medgen"} ! TEK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0010843
name: dyslexia, susceptibility to, 2
subset: predisposition
synonym: "dyslexia, susceptibility to, 2" EXACT [OMIM:600202]
synonym: "DYX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600202]
synonym: "reading disability, specific, 2" RELATED [OMIM:600202]
xref: MEDGEN:325025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600202 {source="MONDO:equivalentTo"}
xref: UMLS:C1838436 {source="MEDGEN:325025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21580 ! KIAA0319
intersection_of: predisposes_towards MONDO:0005489 ! dyslexia
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005489 {source="DC-OMIM:600202", source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21580 {source="MONDO:mim2gene_medgen"} ! KIAA0319
relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0002-4142-7153"} ! dyslexia

[Term]
id: MONDO:0010844
name: epiphyseal dysplasia, multiple, 2
def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COL9A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EDM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600204]
synonym: "epiphyseal dysplasia multiple 2" RELATED [GARD:0009791]
synonym: "epiphyseal dysplasia, multiple, 2" EXACT [MONDO:Lexical, OMIM:600204]
synonym: "epiphyseal dysplasia, multiple, type 2" EXACT [MONDORULE:1, OMIM:600204]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2" EXACT []
synonym: "multiple epiphyseal dysplasia 2" RELATED [GARD:0009791]
xref: DOID:0070298 {source="MONDO:equivalentTo"}
xref: GARD:9791 {source="MONDO:GARD"}
xref: MEDGEN:333092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535502 {source="MONDO:equivalentTo"}
xref: OMIM:600204 {source="MONDO:equivalentTo"}
xref: Orphanet:166002 {source="OMIM:600204"}
xref: UMLS:C1838429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333092"}
is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly
is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:600204"} ! multiple epiphyseal dysplasia
intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2218 ! COL9A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2218 {source="MONDO:mim2gene_medgen"} ! COL9A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9791/multiple-epiphyseal-dysplasia-2" xsd:anyURI {source="GARD:0009791"}

[Term]
id: MONDO:0010845
name: obsolete macrothrombocytopenia and progressive sensorineural deafness
is_obsolete: true
replaced_by: MONDO:0007954

[Term]
id: MONDO:0010846
name: exostoses, multiple, type III
subset: gard_rare {source="GARD:2206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "exostoses, multiple, type 3" RELATED [GARD:0002206]
synonym: "exostoses, multiple, type III" EXACT [MONDO:Lexical, OMIM:600209]
synonym: "EXT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600209]
xref: GARD:2206 {source="MONDO:GARD"}
xref: MEDGEN:333090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563975 {source="MONDO:equivalentTo"}
xref: OMIM:600209 {source="MONDO:equivalentTo"}
xref: Orphanet:321 {source="OMIM:600209"}
xref: UMLS:C1838420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333090"}
is_a: MONDO:0005508 {source="DC-OMIM:600209"} ! hereditary multiple osteochondromas

[Term]
id: MONDO:0010847
name: spinocerebellar ataxia type 4
def: "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy." [Orphanet:98765]
subset: gard_rare {source="GARD:9970", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98765"}
subset: orphanet_rare {source="Orphanet:98765"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600223, Orphanet:98765]
synonym: "spinocerebellar ataxia 4" RELATED [MONDO:Lexical, OMIM:600223]
synonym: "spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy" RELATED [GARD:0009970]
synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:600223]
xref: DOID:0050957 {source="MONDO:equivalentTo"}
xref: GARD:9970 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98765", source="Orphanet:98765/attributed", source="Orphanet:98765/ntbt"}
xref: MEDGEN:199815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600223 {source="Orphanet:98765", source="MONDO:equivalentTo", source="Orphanet:98765/e"}
xref: Orphanet:98765 {source="OMIM:600223", source="MONDO:equivalentTo"}
xref: SCTID:715755008 {source="MONDO:equivalentTo"}
xref: UMLS:C0752122 {source="MEDGEN:199815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:98765"} ! autosomal dominant cerebellar ataxia type I

[Term]
id: MONDO:0010848
name: spinocerebellar ataxia type 5
def: "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." [Orphanet:98766]
subset: gard_rare {source="GARD:4953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98766"}
subset: orphanet_rare {source="Orphanet:98766"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600224, Orphanet:98766]
synonym: "spinocerebellar ataxia 5" RELATED [MONDO:Lexical, OMIM:600224]
synonym: "spinocerebellar ataxia type 5" EXACT [MONDORULE:1, OMIM:600224]
xref: DOID:0050882 {source="MONDO:equivalentTo"}
xref: GARD:4953 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98766/attributed", source="Orphanet:98766/ntbt", source="Orphanet:98766"}
xref: MEDGEN:155705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600224 {source="DOID:0050882", source="Orphanet:98766", source="MONDO:equivalentTo", source="Orphanet:98766/e"}
xref: Orphanet:98766 {source="OMIM:600224", source="MONDO:equivalentTo"}
xref: SCTID:719302009 {source="MONDO:equivalentTo"}
xref: UMLS:C0752123 {source="MEDGEN:155705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019793 {source="Orphanet:98766"} ! autosomal dominant cerebellar ataxia type III
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11276 {source="MONDO:mim2gene_medgen"} ! SPTBN2

[Term]
id: MONDO:0010849
name: palmoplantar keratoderma, Bothnian type
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2337"}
subset: orphanet_rare {source="Orphanet:2337"}
subset: rare
synonym: "palmoplantar keratoderma, Bothnian type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600231]
synonym: "PPKB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600231]
xref: DOID:0111707 {source="MONDO:equivalentTo"}
xref: GARD:1862 {source="MONDO:GARD"}
xref: MEDGEN:325011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600231 {source="MONDO:equivalentTo"}
xref: Orphanet:2337 {source="OMIM:600231", source="MONDO:equivalentTo"}
xref: UMLS:C1838359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325011"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/638 {source="OMIM:600231"} ! AQP5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010850
name: Tessier number 4 facial cleft
subset: gard_rare {source="GARD:16974", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141258"}
subset: ordo_morphological_anomaly {source="Orphanet:141258"}
subset: orphanet_rare {source="Orphanet:141258"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial clefting, oblique, 1" RELATED [MONDO:Lexical, OMIM:600251]
synonym: "facial clefting, oblique, type 1" EXACT [MONDORULE:1, OMIM:600251]
synonym: "OBLFC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600251]
synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM:600251]
xref: DOID:0111706 {source="MONDO:equivalentTo"}
xref: GARD:16974 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141258", source="Orphanet:141258/attributed", source="Orphanet:141258/ntbt"}
xref: MEDGEN:1642051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600251 {source="MONDO:equivalentTo", source="Orphanet:141258", source="Orphanet:141258/e"}
xref: Orphanet:141258 {source="MONDO:equivalentTo", source="OMIM:600251"}
xref: UMLS:C4703420 {source="MEDGEN:1642051", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015824 ! oculomaxillofacial dysostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29022 {source="MONDO:mim2gene_medgen"} ! SPECC1L

[Term]
id: MONDO:0010851
name: Lowry-MacLean syndrome
def: "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." [Orphanet:2409]
subset: gard_rare {source="GARD:3300", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2409"}
subset: ordo_malformation_syndrome {source="Orphanet:2409"}
subset: orphanet_rare {source="Orphanet:2409"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED [GARD:0003300]
synonym: "Lowry MacLean syndrome" RELATED [GARD:0003300]
synonym: "Lowry-MacLean syndrome" EXACT [OMIM:600252]
synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED DEPRECATED [GARD:0003300]
xref: GARD:3300 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2409/attributed", source="Orphanet:2409/ntbt", source="Orphanet:2409"}
xref: MEDGEN:167095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537037 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"}
xref: OMIM:600252 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"}
xref: Orphanet:2409 {source="OMIM:600252", source="MONDO:equivalentTo"}
xref: SCTID:721974000 {source="MONDO:equivalentTo"}
xref: UMLS:C0796020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167095"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0015159 {source="Orphanet:2409"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:2409"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-5002-8648"} ! craniosynostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2409", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0010852
name: chromosome 8Q12.1-q21.2 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bor-Duane hydrocephalus contiguous Gene syndrome" RELATED [OMIM:600257]
synonym: "Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome" RELATED [GARD:0010002]
synonym: "chromosome 8Q12.1-q21.2 deletion syndrome" EXACT [OMIM:600257]
xref: MEDGEN:333071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536574 {source="MONDO:equivalentTo"}
xref: OMIM:600257 {source="MONDO:equivalentTo"}
xref: UMLS:C1838346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333071"}
is_a: MONDO:0000761 {source="DC-OMIM:600257"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016907 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 8
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8q12.1-q21.2 ! 8q12.1-q21.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0010853
name: Helicobacter pylori infection, susceptibility to
subset: predisposition
synonym: "H. pylori infection, susceptibility to" EXACT [OMIM:600263, OMIM:genemap2]
synonym: "Helicobacter pylori infection, susceptibility to" EXACT [OMIM:600263]
xref: MEDGEN:325004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600263 {source="MONDO:equivalentTo"}
xref: UMLS:C1838332 {source="MEDGEN:325004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:600263"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0006781 {source="OMIM:600263"} ! Helicobacter pylori infectious disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0010854
name: Toriello-Lacassie-Droste syndrome
def: "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital." [Orphanet:3339]
subset: gard_rare {source="GARD:10366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3339"}
subset: ordo_malformation_syndrome {source="Orphanet:3339"}
subset: orphanet_rare {source="Orphanet:3339"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aplasia cutis congenita with epibulbar dermoids" RELATED [OMIM:600268]
synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [Orphanet:3339]
synonym: "oculo-ectodermal syndrome" RELATED [GARD:0010366]
synonym: "oculoectodermal syndrome" EXACT [MONDO:Lexical, OMIM:600268, Orphanet:3339]
synonym: "oculoectodermal syndrome, somatic" EXACT [OMIM:600268, OMIM:genemap2]
synonym: "oes" RELATED [MONDO:Lexical, OMIM:600268]
synonym: "Toriello Lacassie Droste syndrome" RELATED [GARD:0010366]
xref: DOID:0111705 {source="MONDO:equivalentTo"}
xref: GARD:10366 {source="MONDO:GARD"}
xref: MEDGEN:333068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563969 {source="MONDO:equivalentTo"}
xref: OMIM:600268 {source="MONDO:equivalentTo", source="Orphanet:3339", source="Orphanet:3339/e"}
xref: Orphanet:3339 {source="OMIM:600268", source="MONDO:equivalentTo"}
xref: SCTID:723554006 {source="MONDO:equivalentTo"}
xref: UMLS:C1838329 {source="MEDGEN:333068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C563969", source="Orphanet:3339"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010855
name: short tarsus-absence of lower eyelashes syndrome
def: "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." [Orphanet:2832]
subset: gard_rare {source="GARD:296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2832"}
subset: ordo_malformation_syndrome {source="Orphanet:2832"}
subset: orphanet_rare {source="Orphanet:2832"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lopes Gorlin syndrome" RELATED [GARD:0000296]
synonym: "Lopes-Gorlin syndrome" EXACT [Orphanet:2832]
synonym: "short tarsus absence of lower eyelashes" RELATED [GARD:0000296]
synonym: "short tarsus with absence of LOWER eyelashes" RELATED [MONDO:Lexical, OMIM:600269]
synonym: "stale" RELATED [MONDO:Lexical, OMIM:600269]
xref: GARD:296 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2832", source="Orphanet:2832/attributed", source="Orphanet:2832/ntbt"}
xref: MEDGEN:325001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537036 {source="MONDO:equivalentTo"}
xref: OMIM:600269 {source="MONDO:equivalentTo", source="Orphanet:2832", source="Orphanet:2832/e"}
xref: Orphanet:2832 {source="MONDO:equivalentTo", source="OMIM:600269"}
xref: SCTID:721075001 {source="MONDO:equivalentTo"}
xref: UMLS:C1838328 {source="MEDGEN:325001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2832"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2832", source="Orphanet:2832/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0010856
name: autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
def: "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)." [Orphanet:88924]
subset: gard_rare {source="GARD:9481", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88924"}
subset: orphanet_rare {source="Orphanet:88924"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 16P13.3 deletion syndrome, distal" RELATED [OMIM:600273]
synonym: "PKDTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600273]
synonym: "polycystic kidney disease, infantile severe, with tuberous sclerosis" RELATED [MONDO:Lexical, OMIM:600273]
synonym: "polycystic kidneys, severe infantile with tuberous sclerosis" RELATED [GARD:0009481]
synonym: "tuberous sclerosis polycystic kidney disease contiguous gene syndrome" RELATED [GARD:0009481]
synonym: "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" EXACT [Orphanet:88924]
xref: GARD:9481 {source="MONDO:GARD"}
xref: MEDGEN:325000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536328 {source="MONDO:equivalentTo"}
xref: OMIM:600273 {source="MONDO:equivalentTo", source="Orphanet:88924", source="Orphanet:88924/e"}
xref: Orphanet:88924 {source="MONDO:equivalentTo", source="OMIM:600273"}
xref: SCTID:765331004 {source="MONDO:equivalentTo"}
xref: UMLS:C1838327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325000"}
is_a: MONDO:0016894 {source="Orphanet:88924", source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019741 {source="Orphanet:88924", source="Orphanet:88924/inferred"} ! familial cystic renal disease

[Term]
id: MONDO:0010857
name: semantic dementia
def: "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." [Orphanet:100069]
subset: gard_rare {source="GARD:10792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100069"}
subset: orphanet_rare {source="Orphanet:100069"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dementia, frontotemporal" EXACT [OMIM:600274, OMIM:genemap2]
synonym: "dementia, frontotemporal, with or without parkinsonism" EXACT [OMIM:600274, OMIM:genemap2]
synonym: "dementia, frontotemporal, with Parkinsonism" RELATED [OMIM:600274]
synonym: "disinhibition-dementia-Parkinsonism-amyotrophy Complex" RELATED [OMIM:600274]
synonym: "frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:600274]
synonym: "frontotemporal dementia with Parkinsonism" RELATED [OMIM:600274]
synonym: "frontotemporal lobar Degeneration with Tau inclusions" RELATED [OMIM:600274]
synonym: "frontotemporal lobe dementia" RELATED [OMIM:600274]
synonym: "FTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600274]
synonym: "Ftdp17" RELATED [OMIM:600274]
synonym: "Ftld with Tau inclusions" RELATED [OMIM:600274]
synonym: "multiple system tauopathy with presenile dementia" RELATED [OMIM:600274]
synonym: "Pallidopontonigral Degeneration" RELATED [OMIM:600274]
synonym: "Pick Complex" RELATED [OMIM:600274]
synonym: "semantic primary progressive aphasia" EXACT [Orphanet:100069]
synonym: "semantic variant PPA" EXACT [Orphanet:100069]
synonym: "Wilhelmsen-Lynch disease" RELATED [OMIM:600274]
xref: DOID:0081391 {source="MONDO:equivalentTo"}
xref: GARD:10792 {source="MONDO:GARD"}
xref: ICD10CM:G31.0 {source="Orphanet:100069/attributed", source="Orphanet:100069/ntbt", source="Orphanet:100069"}
xref: MEDGEN:83268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200550 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:600274 {source="Orphanet:100069", source="MONDO:equivalentTo"}
xref: Orphanet:100069 {source="MONDO:equivalentTo"}
xref: Orphanet:282 {source="OMIM:600274"}
xref: UMLS:C0338462 {source="MEDGEN:83268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015059 ! progressive non-fluent aphasia
is_a: MONDO:0017160 ! behavioral variant of frontotemporal dementia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010858
name: macrocephaly-spastic paraplegia-dysmorphism syndrome
def: "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive." [Orphanet:2429]
subset: gard_rare {source="GARD:16598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2429"}
subset: ordo_malformation_syndrome {source="Orphanet:2429"}
subset: orphanet_rare {source="Orphanet:2429"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fryns macrocephaly" EXACT [OMIM:600302, Orphanet:2429]
synonym: "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" RELATED [OMIM:600302]
xref: GARD:16598 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2429", source="Orphanet:2429/attributed", source="Orphanet:2429/ntbt"}
xref: MEDGEN:373933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563963 {source="MONDO:equivalentTo"}
xref: OMIM:600302 {source="Orphanet:2429/e", source="MONDO:equivalentTo", source="Orphanet:2429"}
xref: Orphanet:2429 {source="MONDO:equivalentTo", source="OMIM:600302"}
xref: SCTID:716108004 {source="MONDO:equivalentTo"}
xref: UMLS:C1838281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373933"}
is_a: MONDO:0015159 {source="Orphanet:2429"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2429", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010859
name: obsolete atrioventricular septal defect 3
def: "OBSOLETE. Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "atrioventricular septal defect 3" EXACT [MONDO:Lexical, OMIM:600309]
synonym: "atrioventricular septal defect caused by mutation in GJA1" EXACT [MONDO:design_pattern]
synonym: "atrioventricular septal defect type 3" EXACT [MONDORULE:1, OMIM:600309]
synonym: "AVSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600309]
synonym: "GJA1 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:600309 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:98722 {source="OMIM:600309"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6202" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0010860
name: autosomal recessive nonsyndromic hearing loss 3
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" NARROW [DOID:0110488]
synonym: "autosomal recessive nonsyndromic deafness 3" NARROW [OMIM:600316]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO15A" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 3" NARROW [DOID:0110488, MONDORULE:1]
synonym: "autosomal recessive nonsyndromic hearing loss 3" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 3" NARROW [MONDO:Lexical, OMIM:600316, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 3" NARROW [MONDORULE:1, OMIM:600316]
synonym: "DFNB3" NARROW ABBREVIATION [DOID:0110488, MONDO:Lexical, OMIM:600316]
synonym: "MYO15A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neurosensory nonsyndromic recessive deafness 3" NARROW [OMIM:600316]
synonym: "NRSD3" NARROW ABBREVIATION [DOID:0110488]
xref: DOID:0110488 {source="MONDO:equivalentTo"}
xref: GARD:22583 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110488"}
xref: MEDGEN:325373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563961 {source="MONDO:equivalentTo"}
xref: OMIM:600316 {source="MONDO:equivalentTo", source="DOID:0110488"}
xref: UMLS:C1838263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325373"}
is_a: MONDO:0019588 {source="DC-OMIM:600316", source="DOID:0110488", source="MONDO:Redundant", source="OMIM:600316"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7594 ! MYO15A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7594 {source="MONDO:mim2gene_medgen"} ! MYO15A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010861
name: type 1 diabetes mellitus 3
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26." [DOID:0110742, MONDO:patterns/inherited_susceptibility, PMID:7842018]
synonym: "diabetes mellitus, insulin-dependent, 3" RELATED [MONDO:Lexical, OMIM:600318]
synonym: "IDDM3" EXACT ABBREVIATION [DOID:0110742, MONDO:Lexical, OMIM:600318]
synonym: "insulin-dependent diabetes mellitus 3" EXACT [DOID:0110742, OMIM:600318]
xref: DOID:0110742 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110742"}
xref: MEDGEN:325372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563960 {source="MONDO:equivalentTo"}
xref: OMIM:600318 {source="DOID:0110742", source="MONDO:equivalentTo"}
xref: UMLS:C1838262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325372"}
is_a: MONDO:0020573 {source="OMIM:600318"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:600318", source="DOID:0110742", source="MESH:C563960", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:600318"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0010862
name: type 1 diabetes mellitus 4
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13." [DOID:0110743, MONDO:patterns/inherited_susceptibility, PMID:9683605]
synonym: "diabetes mellitus, insulin-dependent, 4" RELATED [MONDO:Lexical, OMIM:600319]
synonym: "IDDM4" EXACT ABBREVIATION [DOID:0110743, MONDO:Lexical, OMIM:600319]
synonym: "insulin-dependent diabetes mellitus 4" EXACT [DOID:0110743, OMIM:600319]
xref: DOID:0110743 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110743"}
xref: MEDGEN:373925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563959 {source="MONDO:equivalentTo"}
xref: OMIM:600319 {source="DOID:0110743", source="MONDO:equivalentTo"}
xref: UMLS:C1838261 {source="MEDGEN:373925", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:600319"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:600319", source="DOID:0110743", source="MESH:C563959", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:600319"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0010863
name: type 1 diabetes mellitus 5
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "diabetes mellitus, insulin-dependent, 5" RELATED [MONDO:Lexical, OMIM:600320]
synonym: "diabetes mellitus, insulin-dependent, type 5" EXACT [MONDORULE:1, OMIM:600320]
synonym: "IDDM5" EXACT ABBREVIATION [DOID:0110744, MONDO:Lexical, OMIM:600320]
synonym: "insulin-dependent diabetes mellitus 5" EXACT [DOID:0110744, OMIM:600320]
synonym: "SUMO4 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "type 1 diabetes mellitus caused by mutation in SUMO4" EXACT [MONDO:design_pattern]
xref: DOID:0110744 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110744"}
xref: MEDGEN:325371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563958 {source="MONDO:equivalentTo"}
xref: OMIM:600320 {source="DOID:0110744", source="MONDO:equivalentTo"}
xref: UMLS:C1838260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325371"}
is_a: MONDO:0020573 {source="OMIM:600320"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 {source="OMIM:600320"} ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21181 {source="OMIM:600320"} ! SUMO4
intersection_of: predisposes_towards MONDO:0005147 {source="OMIM:600320"} ! type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:600320", source="DOID:0110744", source="MESH:C563958", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21181 {source="MONDO:mim2gene_medgen"} ! SUMO4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0010864
name: type 1 diabetes mellitus 7
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31." [DOID:0110746, MONDO:patterns/inherited_susceptibility, PMID:7704030]
synonym: "diabetes mellitus, insulin-dependent, 7" RELATED [MONDO:Lexical, OMIM:600321]
synonym: "IDDM7" EXACT ABBREVIATION [DOID:0110746, MONDO:Lexical, OMIM:600321]
synonym: "insulin-dependent diabetes mellitus 7" EXACT [DOID:0110746, OMIM:600321]
xref: DOID:0110746 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110746"}
xref: MEDGEN:333051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563957 {source="MONDO:equivalentTo"}
xref: OMIM:600321 {source="DOID:0110746", source="MONDO:equivalentTo"}
xref: UMLS:C1838259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333051"}
is_a: MONDO:0020573 {source="-OMIM:600321"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:600321", source="DOID:0110746", source="MESH:C563957", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="-OMIM:600321"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0010865
name: pseudoaminopterin syndrome
def: "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." [Orphanet:221120]
subset: gard_rare {source="GARD:4544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221120"}
subset: ordo_malformation_syndrome {source="Orphanet:221120"}
subset: orphanet_rare {source="Orphanet:221120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aminopterin syndrome sine aminopterin" RELATED [GARD:0004544, MONDO:Lexical, OMIM:600325]
synonym: "aminopterin syndrome-like sine aminopterin" EXACT [Orphanet:221120]
synonym: "ASSA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600325, Orphanet:221120]
synonym: "pseudoaminopterin syndrome" EXACT [OMIM:600325]
xref: GARD:4544 {source="MONDO:GARD"}
xref: ICD10CM:Q82.0 {source="Orphanet:221120", source="MONDO:relatedTo", source="Orphanet:221120/attributed", source="Orphanet:221120/ntbt"}
xref: MEDGEN:163196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535823 {source="MONDO:equivalentTo"}
xref: OMIM:600325 {source="Orphanet:221120", source="MONDO:equivalentTo", source="Orphanet:221120/e"}
xref: Orphanet:221120 {source="MONDO:equivalentTo", source="OMIM:600325"}
xref: SCTID:715867000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795939 {source="MEDGEN:163196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015159 {source="Orphanet:221120"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:221120"} ! syndromic craniosynostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:221120", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome" xsd:anyURI {source="GARD:0004544"}

[Term]
id: MONDO:0010866
name: infantile osteopetrosis with neuroaxonal dysplasia
def: "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus." [Orphanet:85179]
subset: gard_rare {source="GARD:10082", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85179"}
subset: ordo_malformation_syndrome {source="Orphanet:85179"}
subset: orphanet_rare {source="Orphanet:85179"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteopetrosis and infantile neuroaxonal dystrophy" RELATED [OMIM:600329]
xref: DOID:0070343 {source="MONDO:equivalentTo"}
xref: GARD:10082 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:85179/attributed", source="Orphanet:85179/ntbt", source="Orphanet:85179"}
xref: MEDGEN:373924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536055 {source="MONDO:equivalentTo"}
xref: OMIM:600329 {source="Orphanet:85179", source="MONDO:equivalentTo", source="Orphanet:85179/e"}
xref: Orphanet:85179 {source="MONDO:equivalentTo", source="OMIM:600329"}
xref: SCTID:724226009 {source="MONDO:equivalentTo"}
xref: UMLS:C1838258 {source="MEDGEN:373924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017198 {source="Orphanet:85179"} ! osteopetrosis

[Term]
id: MONDO:0010867
name: PARC syndrome
def: "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." [Orphanet:2825]
subset: gard_rare {source="GARD:4223", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2825"}
subset: ordo_malformation_syndrome {source="Orphanet:2825"}
subset: orphanet_rare {source="Orphanet:2825"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PARC syndrome" EXACT [OMIM:600331]
synonym: "poikiloderma, alopecia, retrognathism, and cleft palate" RELATED [OMIM:600331]
synonym: "poikiloderma-alopecia-retrognathism-cleft palate syndrome" EXACT [Orphanet:2825]
xref: GARD:4223 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2825", source="Orphanet:2825/attributed", source="Orphanet:2825/ntbt"}
xref: MEDGEN:373923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537174 {source="Orphanet:2825/e", source="MONDO:equivalentTo", source="Orphanet:2825"}
xref: OMIM:600331 {source="Orphanet:2825/e", source="MONDO:equivalentTo", source="Orphanet:2825"}
xref: Orphanet:2825 {source="OMIM:600331", source="MONDO:equivalentTo"}
xref: UMLS:C1838256 {source="MEDGEN:373923", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2825"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome" xsd:anyURI {source="GARD:0004223"}

[Term]
id: MONDO:0010868
name: rippling muscle disease 1
subset: gard_rare {source="GARD:9165", source="MONDO:GARD"}
subset: rare
synonym: "rippling muscle disease 1" EXACT [MONDO:Lexical, OMIM:600332]
synonym: "rippling muscle disease, 1" RELATED [GARD:0009165]
synonym: "rippling muscle disease-1" EXACT [OMIM:600332, OMIM:genemap2]
synonym: "RMD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600332]
xref: DOID:0070308 {source="MONDO:equivalentTo"}
xref: GARD:9165 {source="MONDO:GARD"}
xref: MEDGEN:324987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600332 {source="MONDO:equivalentTo"}
xref: Orphanet:97238 {source="OMIM:600332"}
xref: UMLS:C1838254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324987"}
is_a: MONDO:0020704 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited rippling muscle disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010869
name: motor neuron disease with dementia and ophthalmoplegia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "motor neuron disease with dementia and ophthalmoplegia" EXACT [OMIM:600333]
xref: MEDGEN:324986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563954 {source="MONDO:equivalentTo"}
xref: OMIM:600333 {source="MONDO:equivalentTo"}
xref: UMLS:C1838253 {source="MEDGEN:324986", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0020128 {source="MESH:C563954"} ! motor neuron disorder
relationship: disease_has_feature MONDO:0001627 {source="MESH:C563954"} ! dementia
relationship: disease_has_feature MONDO:0003425 {source="MESH:C563954"} ! ophthalmoplegia

[Term]
id: MONDO:0010870
name: tibial muscular dystrophy
def: "A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:609]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13154", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:609"}
subset: orphanet_rare {source="Orphanet:609"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal myopathy, Udd type" EXACT [Orphanet:609]
synonym: "distal titinopathy" EXACT [DOID:0111078, Orphanet:609]
synonym: "Finnish tibial muscular dystrophy" EXACT [DOID:0111078, Orphanet:609]
synonym: "tardive tibial muscular dystrophy" EXACT [DOID:0111078, OMIM:600334]
synonym: "tibial muscular dystrophy, tardive" RELATED [OMIM:600334]
synonym: "TMD" EXACT ABBREVIATION [DOID:0111078, Orphanet:609]
synonym: "Tmd" RELATED [OMIM:600334]
synonym: "Udd myopathy" EXACT [DOID:0111078, Orphanet:609]
synonym: "Udd type distal myopathy" EXACT [DOID:0111078]
xref: DOID:0111078 {source="MONDO:equivalentTo"}
xref: GARD:13154 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0111078", source="Orphanet:609", source="Orphanet:609/attributed", source="Orphanet:609/ntbt"}
xref: MEDGEN:333047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536815 {source="Orphanet:609/e", source="DOID:0111078", source="Orphanet:609"}
xref: OMIM:600334 {source="Orphanet:609/e", source="MONDO:equivalentTo", source="DOID:0111078", source="Orphanet:609"}
xref: Orphanet:609 {source="OMIM:600334", source="MONDO:equivalentTo", source="DOID:0111078"}
xref: SCTID:698846009 {source="MONDO:equivalentTo"}
xref: UMLS:C1838244 {source="MEDGEN:333047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016108 {source="Orphanet:609"} ! autosomal dominant distal myopathy
is_a: MONDO:0018949 {source="DOID:0111078", source="MONDO:Redundant", source="Orphanet:609/inferred"} ! distal myopathy
is_a: MONDO:0100494 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal dominant titinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN

[Term]
id: MONDO:0010871
name: succinic acidemia
synonym: "succinic acidemia" EXACT [OMIM:600335]
xref: MEDGEN:373921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563952 {source="MONDO:equivalentTo"}
xref: OMIM:600335 {source="MONDO:equivalentTo"}
xref: Orphanet:936 {source="MONDO:equivalentObsolete", source="OMIM:600335"}
xref: UMLS:C1838243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373921"}
is_a: MONDO:0003847 {source="MESH:C563952/inferred"} ! hereditary disease

[Term]
id: MONDO:0010872
name: parotid salivary glands, polycystic dysgenetic disease of
synonym: "parotid salivary glands, polycystic dysgenetic disease OF" RELATED [MONDO:Lexical, OMIM:600343]
synonym: "PDDP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600343]
xref: MEDGEN:764047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600343 {source="MONDO:equivalentTo"}
xref: UMLS:C3551133 {source="MEDGEN:764047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010873
name: band heterotopia of brain
comment: Editor check: TODO
subset: gard_rare {source="GARD:2250", source="MONDO:GARD"}
subset: rare
synonym: "band heterotopia" RELATED [OMIM:600348]
synonym: "band heterotopia of brain" EXACT [OMIM:600348]
synonym: "BH" RELATED ABBREVIATION [OMIM:600348]
xref: GARD:2250 {source="MONDO:GARD"}
xref: MEDGEN:924885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563950 {source="MONDO:equivalentTo"}
xref: OMIM:600348 {source="MONDO:equivalentTo"}
xref: Orphanet:99796 {source="OMIM:600348"}
xref: UMLS:C4284594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924885"}
is_a: MONDO:0020491 {source="Orphanet:99796/btnt"} ! subcortical band heterotopia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3330 {source="MONDO:mim2gene_medgen"} ! EML1

[Term]
id: MONDO:0010874
name: enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
synonym: "enteropathy, familial, with villous edema and immunoglobulin G2 deficiency" EXACT [OMIM:600351]
xref: MEDGEN:324980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563949 {source="MONDO:equivalentTo"}
xref: OMIM:600351 {source="MONDO:equivalentTo"}
xref: UMLS:C1838238 {source="MEDGEN:324980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010875
name: pachydermodactyly, familial
synonym: "pachydermodactyly, familial" EXACT [OMIM:600356]
xref: MEDGEN:324974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563947 {source="MONDO:equivalentTo"}
xref: OMIM:600356 {source="MONDO:equivalentTo"}
xref: UMLS:C1838218 {source="MONDO:equivalentTo", source="MEDGEN:324974", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010876
name: recessive aplasia cutis congenita of limbs
def: "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980." [Orphanet:1115]
subset: gard_rare {source="GARD:754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aplasia cutis congenita of limbs recessive" RELATED [GARD:0000754]
synonym: "aplasia cutis congenita of limbs, autosomal recessive" RELATED [OMIM:600360]
synonym: "congenital absence of skin on the upper or lower limbs" RELATED [GARD:0000754]
synonym: "recessive aplasia cutis congenita of the limbs" RELATED [GARD:0000754]
xref: GARD:754 {source="MONDO:GARD"}
xref: ICD10CM:Q84.8 {source="Orphanet:1115", source="Orphanet:1115/attributed", source="Orphanet:1115/ntbt"}
xref: MEDGEN:324970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536840 {source="MONDO:equivalentTo", source="Orphanet:1115", source="Orphanet:1115/e"}
xref: OMIM:600360 {source="MONDO:equivalentTo", source="Orphanet:1115", source="Orphanet:1115/e"}
xref: Orphanet:1115 {source="MONDO:equivalentObsolete", source="OMIM:600360"}
xref: SCTID:723500009 {source="MONDO:equivalentTo"}
xref: UMLS:C1838206 {source="MEDGEN:324970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019294 {source="Orphanet:1115"} ! mixed dermis disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive" xsd:anyURI {source="GARD:0000754"}

[Term]
id: MONDO:0010877
name: Charcot-Marie-Tooth disease type 5
def: "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." [Orphanet:64751]
subset: gard_rare {source="GARD:9208", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64751"}
subset: orphanet_rare {source="Orphanet:64751"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant" RELATED [OMIM:600361]
synonym: "Charcot-Marie-Tooth disease-pyramidal features syndrome" EXACT [Orphanet:64751]
synonym: "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant" RELATED [OMIM:600361]
synonym: "CMT with pyramidal features" RELATED [OMIM:600361]
synonym: "hereditary motor and sensory neuropathy 5" RELATED [GARD:0009208, OMIM:600361]
synonym: "hereditary motor and sensory neuropathy type 5" EXACT [MONDORULE:1, OMIM:600361]
synonym: "hereditary motor and sensory neuropathy V" RELATED [OMIM:600361]
synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT [DOID:0080067]
synonym: "HMSN 5" EXACT [OMIM:600361, Orphanet:64751]
synonym: "HMSN5" RELATED ABBREVIATION [OMIM:600361]
synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" RELATED [OMIM:600361]
xref: DOID:0080067 {source="MONDO:equivalentTo"}
xref: GARD:9208 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:64751", source="Orphanet:64751/attributed", source="Orphanet:64751/ntbt"}
xref: MEDGEN:1648461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600361 {source="Orphanet:64751", source="DOID:0080067", source="MONDO:equivalentTo", source="Orphanet:64751/e"}
xref: Orphanet:64751 {source="MONDO:equivalentTo", source="OMIM:600361"}
xref: SCTID:76043009 {source="MONDO:equivalentTo"}
xref: UMLS:C4721916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648461"}
is_a: MONDO:0002316 {source="DC-OMIM:600361"} ! motor peripheral neuropathy
is_a: MONDO:0019064 ! hereditary spastic paraplegia

[Term]
id: MONDO:0010878
name: hereditary spastic paraplegia 6
def: "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." [Orphanet:100988]
subset: gard_rare {source="GARD:4928", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100988"}
subset: orphanet_rare {source="Orphanet:100988"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [DOID:0110811, Orphanet:100988]
synonym: "autosomal dominant spastic paraplegia 6" EXACT [DOID:0110811]
synonym: "autosomal dominant spastic paraplegia type 6" EXACT [DOID:0110811]
synonym: "familial spastic paraplegia autosomal dominant 3" RELATED [GARD:0004928]
synonym: "familial spastic paraplegia, autosomal dominant, 3" RELATED [OMIM:600363]
synonym: "FSP3" EXACT ABBREVIATION [DOID:0110811]
synonym: "hereditary spastic paraplegia caused by mutation in NIPA1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 6" EXACT [DOID:0110811, MONDORULE:1]
synonym: "NIPA1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 6" RELATED [GARD:0004928]
synonym: "spastic paraplegia 6, autosomal dominant" RELATED [MONDO:Lexical, OMIM:600363]
synonym: "SPG6" EXACT ABBREVIATION [DOID:0110811, MONDO:Lexical, OMIM:600363, Orphanet:100988]
xref: DOID:0110811 {source="MONDO:equivalentTo"}
xref: GARD:4928 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110811", source="Orphanet:100988/attributed", source="Orphanet:100988/ntbt", source="Orphanet:100988"}
xref: MEDGEN:324965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536866 {source="Orphanet:100988/e", source="MONDO:equivalentTo", source="Orphanet:100988"}
xref: OMIM:600363 {source="Orphanet:100988/e", source="DOID:0110811", source="MONDO:equivalentTo", source="Orphanet:100988"}
xref: Orphanet:100988 {source="OMIM:600363", source="DOID:0110811", source="MONDO:equivalentTo"}
xref: SCTID:732949006 {source="MONDO:equivalentTo"}
xref: UMLS:C1838192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324965"}
is_a: MONDO:0019064 {source="DOID:0110811", source="MESH:C536866", source="MONDO:Redundant", source="OMIM:600363", source="Orphanet:100988/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17043 ! NIPA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17043 {source="MONDO:mim2gene_medgen"} ! NIPA1

[Term]
id: MONDO:0010879
name: CODAS syndrome
def: "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." [Orphanet:1458]
subset: gard_rare {source="GARD:1418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1458"}
subset: ordo_malformation_syndrome {source="Orphanet:1458"}
subset: orphanet_rare {source="Orphanet:1458"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" RELATED [OMIM:600373]
synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" RELATED [GARD:0001418]
synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" RELATED [GARD:0001418]
synonym: "cerebrooculodentoauriculoskeletal syndrome" EXACT [Orphanet:1458]
synonym: "CODAS syndrome" EXACT [OMIM:600373]
xref: DOID:0111274 {source="MONDO:equivalentTo"}
xref: GARD:1418 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1458", source="Orphanet:1458/attributed", source="Orphanet:1458/ntbt"}
xref: MEDGEN:333031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536434 {source="MONDO:equivalentTo", source="Orphanet:1458", source="Orphanet:1458/e"}
xref: NCIT:C126744 {source="MONDO:equivalentTo"}
xref: OMIM:600373 {source="MONDO:equivalentTo", source="Orphanet:1458", source="Orphanet:1458/e"}
xref: Orphanet:1458 {source="OMIM:600373", source="MONDO:equivalentTo"}
xref: SCTID:717772000 {source="MONDO:equivalentTo"}
xref: UMLS:C1838180 {source="MEDGEN:333031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C126744"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1458"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016761 {source="Orphanet:1458", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0021147 {source="Orphanet:1458", source="Orphanet:1458/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9479 {source="MONDO:mim2gene_medgen"} ! LONP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome" xsd:anyURI {source="GARD:0001418"}

[Term]
id: MONDO:0010880
name: telangiectasia, hereditary hemorrhagic, type 2
def: "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9901", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACVRL1 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1" EXACT [MONDO:design_pattern]
synonym: "hereditary hemorrhagic telangiectasia type 2" RELATED [GARD:0009901]
synonym: "HHT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600376]
synonym: "ORW2" RELATED ABBREVIATION [GARD:0009901]
synonym: "Osler Weber Rendu syndrome type 2" RELATED [GARD:0009901]
synonym: "pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related" RELATED [OMIM:600376]
synonym: "telangiectasia hereditary hemorrhagic type 2" RELATED [GARD:0009901]
synonym: "telangiectasia, hereditary hemorrhagic, type 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600376]
xref: GARD:9901 {source="MONDO:GARD"}
xref: MEDGEN:324960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600376 {source="MONDO:equivalentTo"}
xref: Orphanet:774 {source="OMIM:600376"}
xref: UMLS:C1838163 {source="MEDGEN:324960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019180 {source="DC-OMIM:600376", source="MONDO:Redundant", source="OMIM:600376"} ! hereditary hemorrhagic telangiectasia
intersection_of: MONDO:0019180 ! hereditary hemorrhagic telangiectasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/175 ! ACVRL1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:600376"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/175 {source="MONDO:mim2gene_medgen"} ! ACVRL1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9901/hereditary-hemorrhagic-telangiectasia-type-2" xsd:anyURI {source="GARD:0009901"}

[Term]
id: MONDO:0010881
name: mesomelia-synostoses syndrome
def: "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." [https://orcid.org/0000-0001-5208-3432, Orphanet:2496]
subset: gard_rare {source="GARD:4302", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2496"}
subset: ordo_malformation_syndrome {source="Orphanet:2496"}
subset: orphanet_rare {source="Orphanet:2496"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "8q13 microdeletion syndrome" EXACT [Orphanet:2496]
synonym: "chromosome 8Q13 deletion syndrome" RELATED [OMIM:600383]
synonym: "Del(8)q(13)" EXACT [Orphanet:2496]
synonym: "dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis" RELATED [GARD:0004302]
synonym: "mesomelia synostoses" RELATED [GARD:0004302]
synonym: "mesomelia-synostoses syndrome" EXACT [OMIM:600383]
synonym: "mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type" EXACT [Orphanet:2496]
synonym: "mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type" EXACT [OMIM:600383, Orphanet:2496]
synonym: "mesomelic dysplasia, syndromic" RELATED [OMIM:600383]
synonym: "monosomy 8q13" EXACT [Orphanet:2496]
synonym: "Verloes-David syndrome" EXACT [Orphanet:2496]
xref: GARD:4302 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:2496", source="Orphanet:2496/attributed", source="Orphanet:2496/ntbt"}
xref: MEDGEN:324959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537348 {source="MONDO:equivalentTo"}
xref: OMIM:600383 {source="Orphanet:2496", source="MONDO:equivalentTo", source="Orphanet:2496/e"}
xref: Orphanet:2496 {source="MONDO:equivalentTo", source="OMIM:600383"}
xref: SCTID:724147004 {source="MONDO:equivalentTo"}
xref: UMLS:C1838162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324959"}
is_a: MONDO:0005516 {source="https://orcid.org/0000-0001-5208-3432"} ! osteochondrodysplasia
is_a: MONDO:0016907 {source="Orphanet:2496"} ! partial deletion of the long arm of chromosome 8
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0019696 {source="Orphanet:2496", source="https://orcid.org/0000-0001-5208-3432"} ! acromesomelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome" xsd:anyURI {source="GARD:0004302"}

[Term]
id: MONDO:0010882
name: aphalangy-syndactyly-microcephaly syndrome
def: "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." [Orphanet:1113]
subset: gard_rare {source="GARD:748", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1113"}
subset: ordo_malformation_syndrome {source="Orphanet:1113"}
subset: orphanet_rare {source="Orphanet:1113"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aphalangia partial with syndactyly and duplication of metatarsal IV" RELATED [GARD:0000748]
synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal 4" RELATED [OMIM:600384]
synonym: "APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV" RELATED [OMIM:600384]
synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" EXACT [MONDORULE:1, OMIM:600384]
xref: GARD:748 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1113/attributed", source="Orphanet:1113/ntbt", source="Orphanet:1113"}
xref: MEDGEN:324958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563942 {source="MONDO:equivalentTo"}
xref: OMIM:600384 {source="Orphanet:1113", source="MONDO:equivalentTo", source="Orphanet:1113/e", source="GARD:0000748"}
xref: Orphanet:1113 {source="OMIM:600384", source="MONDO:equivalentTo"}
xref: UMLS:C1838161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324958"}
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/748/aphalangia-partial-with-syndactyly-and-duplication-of-metatarsal-iv" xsd:anyURI {source="GARD:0000748"}

[Term]
id: MONDO:0010883
name: pectus excavatum-macrocephaly-dysplastic nails syndrome
def: "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992." [Orphanet:2835]
subset: gard_rare {source="GARD:374", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2835"}
subset: ordo_malformation_syndrome {source="Orphanet:2835"}
subset: orphanet_rare {source="Orphanet:2835"}
subset: rare
synonym: "familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails" RELATED [GARD:0000374]
synonym: "pectus excavatum, macrocephaly and dysplastic nails" RELATED [GARD:0000374]
synonym: "pectus excavatum, macrocephaly, short stature, and dysplastic nails" RELATED [OMIM:600399]
synonym: "Zori Stalker Williams syndrome" RELATED [GARD:0000374]
synonym: "Zori-Stalker-Williams syndrome" EXACT [Orphanet:2835]
xref: GARD:374 {source="MONDO:GARD"}
xref: MEDGEN:373902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536728 {source="MONDO:equivalentTo"}
xref: OMIM:600399 {source="Orphanet:2835/e", source="MONDO:equivalentTo", source="Orphanet:2835"}
xref: Orphanet:2835 {source="OMIM:600399", source="MONDO:equivalentTo"}
xref: SCTID:763863002 {source="MONDO:equivalentTo"}
xref: UMLS:C1838160 {source="MEDGEN:373902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2835"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2835", source="Orphanet:2835/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0010884
name: muscular dystrophy, scapulohumeral
subset: gard_rare {source="GARD:15317", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "muscular dystrophy, scapulohumeral" EXACT [OMIM:600416]
xref: GARD:15317 {source="MONDO:GARD"}
xref: MEDGEN:98373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562932 {source="MONDO:equivalentTo"}
xref: OMIM:600416 {source="MONDO:equivalentTo"}
xref: Orphanet:269 {source="OMIM:600416"}
xref: SCTID:240074006 {source="MONDO:equivalentTo"}
xref: UMLS:C0410192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98373"}
is_a: MONDO:0001347 {source="MESH:C562932", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy

[Term]
id: MONDO:0010885
name: angiokeratoma corporis diffusum with arteriovenous fistulas
subset: otar {source="MONDO:OTAR"}
synonym: "angiokeratoma corporis diffusum with arteriovenous fistulas" EXACT [OMIM:600419]
xref: MEDGEN:324953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563940 {source="MONDO:equivalentTo"}
xref: OMIM:600419 {source="MONDO:equivalentTo"}
xref: UMLS:C1838141 {source="MEDGEN:324953", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563940/inferred"} ! hereditary disease

[Term]
id: MONDO:0010886
name: 2q37 microdeletion syndrome
def: "A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." [https://orcid.org/0000-0001-5208-3432, Orphanet:1001]
subset: gard_rare {source="GARD:10202", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1001"}
subset: ordo_malformation_syndrome {source="Orphanet:1001"}
subset: orphanet_rare {source="Orphanet:1001"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2q37 deletion syndrome" RELATED [GARD:0010202]
synonym: "2q37 microdeletion syndrome" EXACT CLINGEN_LABEL []
synonym: "2q37 monosomy" EXACT [DECIPHER:44]
synonym: "Albright hereditary osteodystrophy type 3" EXACT [Orphanet:1001]
synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT [OMIM:600430, Orphanet:1001]
synonym: "BDMR" EXACT ABBREVIATION [NCIT:C129021]
synonym: "brachydactyly intellectual disability syndrome" EXACT [NCIT:C129021]
synonym: "brachydactyly mental retardation syndrome" EXACT DEPRECATED [NCIT:C129021]
synonym: "brachydactyly-intellectual disability syndrome" EXACT [OMIM:600430, Orphanet:1001]
synonym: "brachydactyly-mental retardation syndrome" RELATED DEPRECATED [OMIM:600430]
synonym: "chromosome 2q37 deletion syndrome" RELATED [OMIM:600430]
synonym: "Del(2)(q37)" EXACT [Orphanet:1001]
synonym: "deletion 2q37" EXACT [Orphanet:1001]
synonym: "deletion 2q37-qter" EXACT [Orphanet:1001]
synonym: "monosomy 2q37-qter" EXACT [Orphanet:1001]
xref: DECIPHER:44 {source="MONDO:equivalentTo"}
xref: DOID:0111704 {source="MONDO:equivalentTo"}
xref: GARD:10202 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1001/attributed", source="Orphanet:1001/ntbt", source="Orphanet:1001"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:419169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538317 {source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e"}
xref: NCIT:C129021 {source="MONDO:equivalentTo"}
xref: OMIM:600430 {source="Orphanet:1001", source="MONDO:equivalentTo", source="Orphanet:1001/e"}
xref: Orphanet:1001 {source="OMIM:600430", source="MONDO:equivalentTo"}
xref: SCTID:702357000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419169"}
is_a: MONDO:0016901 {source="Orphanet:1001"} ! partial deletion of the long arm of chromosome 2
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0019054 ! congenital limb malformation
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2q37 ! 2q37 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C129021", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010887
name: isolated anterior cervical hypertrichosis
def: "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood." [Orphanet:3387]
subset: gard_rare {source="GARD:8438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3387"}
subset: orphanet_rare {source="Orphanet:3387"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior cervical hypertrichosis" RELATED [GARD:0008438]
synonym: "hairy throat" RELATED [GARD:0008438]
synonym: "hairy throat syndrome" EXACT [Orphanet:3387]
synonym: "hypertrichosis, anterior cervical" RELATED [OMIM:600457]
synonym: "Tsukahara Kajii syndrome" RELATED [GARD:0008438]
synonym: "Tsukahara-Kajii syndrome" EXACT [Orphanet:3387]
xref: GARD:8438 {source="MONDO:GARD"}
xref: ICD10CM:L68.2 {source="Orphanet:3387", source="Orphanet:3387/attributed", source="Orphanet:3387/ntbt"}
xref: MEDGEN:325346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538390 {source="MONDO:equivalentTo"}
xref: OMIM:600457 {source="Orphanet:3387", source="MONDO:equivalentTo", source="Orphanet:3387/e"}
xref: Orphanet:3387 {source="MONDO:equivalentTo", source="OMIM:600457"}
xref: SCTID:717963001 {source="MONDO:equivalentTo"}
xref: UMLS:C1838123 {source="MEDGEN:325346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019280 {source="DC-OMIM:600457", source="MESH:C538390", source="Orphanet:3387"} ! hypertrichosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis" xsd:anyURI {source="GARD:0008438"}

[Term]
id: MONDO:0010888
name: adenomyosis
def: "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia." [NCIT:C6996]
comment: Editor note: NCIT does not classify as a subtype of endometriosis
subset: otar {source="MONDO:OTAR"}
synonym: "adenomyosis of the uterus" EXACT [NCIT:C6996]
synonym: "adenomyosis of uterus" EXACT [NCIT:C6996]
synonym: "endometriosis (disease) of myometrium" EXACT []
synonym: "endometriosis interna" EXACT [DOID:288]
synonym: "endometriosis of myometrium" EXACT [DOID:288]
synonym: "endometriosis of uterus" EXACT [DOID:288]
synonym: "endometriosis, myometrium" EXACT [DOID:288]
synonym: "myometrium endometriosis (disease)" EXACT [MONDO:patterns/location]
synonym: "uterine adenomyosis" EXACT [DOID:288, NCIT:C6996]
synonym: "uterine corpus adenomyosis" EXACT [NCIT:C6996]
synonym: "uterus corpus adenomyosis" EXACT [NCIT:C6996]
xref: DOID:288 {source="MONDO:equivalentTo"}
xref: ICD10CM:N80.0 {source="MONDO:equivalentTo", source="DOID:288"}
xref: ICD9:617.0 {source="DOID:288"}
xref: MEDGEN:1805484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D062788 {source="MONDO:equivalentTo", source="DOID:288"}
xref: NCIT:C6996 {source="MONDO:equivalentTo", source="DOID:288"}
xref: OMIM:600458 {source="MONDO:equivalentTo", source="DOID:288"}
xref: SCTID:155988000 {source="DOID:288"}
xref: SCTID:198246007 {source="DOID:288"}
xref: SCTID:198247003 {source="DOID:288"}
xref: SCTID:198248008 {source="DOID:288"}
xref: SCTID:198249000 {source="DOID:288"}
xref: SCTID:237115002 {source="MONDO:equivalentTo", source="DOID:288"}
xref: SCTID:76376003 {source="DOID:288"}
xref: UMLS:C5574708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805484"}
is_a: MONDO:0000931 {source="https://orcid.org/0000-0002-7463-6306"} ! endometrial disorder
intersection_of: MONDO:0000931 ! endometrial disorder
intersection_of: disease_has_location UBERON:0001296 ! myometrium
relationship: excluded_subClassOf MONDO:0005133 {source="DOID:288", source="ICD10CM:N80.0", source="https://orcid.org/0000-0001-5208-3432"} ! endometriosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5241" xsd:anyURI

[Term]
id: MONDO:0010889
name: arterial dissection-lentiginosis syndrome
def: "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." [Orphanet:1682]
subset: gard_rare {source="GARD:16577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1682"}
subset: ordo_malformation_syndrome {source="Orphanet:1682"}
subset: orphanet_rare {source="Orphanet:1682"}
subset: rare
synonym: "arterial dissection with lentiginosis" RELATED [OMIM:600459]
xref: GARD:16577 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1682", source="Orphanet:1682/ntbt"}
xref: MEDGEN:325345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563937 {source="MONDO:equivalentTo"}
xref: OMIM:600459 {source="Orphanet:1682", source="MONDO:equivalentTo", source="Orphanet:1682/e"}
xref: Orphanet:1682 {source="MONDO:equivalentTo", source="OMIM:600459"}
xref: UMLS:C1838122 {source="MEDGEN:325345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0010890
name: acrocardiofacial syndrome
def: "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." [Orphanet:2008]
subset: gard_rare {source="GARD:1167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2008"}
subset: ordo_malformation_syndrome {source="Orphanet:2008"}
subset: orphanet_rare {source="Orphanet:2008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACFS" EXACT ABBREVIATION [Orphanet:2008]
synonym: "acrocardiofacial syndrome" EXACT [OMIM:600460]
synonym: "CCGE" RELATED ABBREVIATION [OMIM:600460]
synonym: "CCGE syndrome" EXACT [Orphanet:2008]
synonym: "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" RELATED [OMIM:600460]
synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [Orphanet:2008]
xref: DOID:0070419 {source="MONDO:equivalentTo"}
xref: GARD:1167 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2008", source="Orphanet:2008/attributed", source="Orphanet:2008/ntbt"}
xref: MEDGEN:324947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563936 {source="MONDO:equivalentTo"}
xref: OMIM:600460 {source="MONDO:equivalentTo", source="Orphanet:2008", source="Orphanet:2008/e"}
xref: Orphanet:2008 {source="MONDO:equivalentTo", source="OMIM:600460"}
xref: UMLS:C1838121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324947"}
is_a: MONDO:0015159 {source="Orphanet:2008"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2008", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010891
name: lethal hemolytic anemia-genital anomalies syndrome
def: "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." [Orphanet:1046]
subset: gard_rare {source="GARD:2642", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1046"}
subset: ordo_malformation_syndrome {source="Orphanet:1046"}
subset: orphanet_rare {source="Orphanet:1046"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemolytic anaemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED OMO:0003005 []
synonym: "hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED [GARD:0002642]
synonym: "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" RELATED [OMIM:600461]
synonym: "water-West syndrome" EXACT [Orphanet:1046]
xref: GARD:2642 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:1046", source="Orphanet:1046/attributed", source="Orphanet:1046/ntbt"}
xref: MEDGEN:333019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563935 {source="MONDO:equivalentTo"}
xref: OMIM:600461 {source="Orphanet:1046", source="MONDO:equivalentTo", source="Orphanet:1046/e"}
xref: Orphanet:1046 {source="OMIM:600461", source="MONDO:equivalentTo"}
xref: UMLS:C1838120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333019"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003664 {source="Orphanet:1046"} ! hemolytic anemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015910"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0010892
name: obsolete mitochondrial myopathy and sideroblastic anemia
is_obsolete: true
replaced_by: MONDO:0000863

[Term]
id: MONDO:0010893
name: malignant hyperthermia, susceptibility to, 4
subset: predisposition
synonym: "malignant hyperpyrexia susceptibility type 4" RELATED [GARD:0003366, MESH:C535697]
synonym: "malignant hyperthermia susceptibility 4" EXACT [OMIM:600467, OMIM:genemap2]
synonym: "malignant hyperthermia susceptibility type 4" RELATED [GARD:0003366]
synonym: "malignant hyperthermia, susceptibility to, 4" EXACT [MESH:C535697, OMIM:600467]
synonym: "malignant hyperthermia, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:600467]
synonym: "MHS4" RELATED ABBREVIATION [GARD:0003366, MESH:C535697]
synonym: "Mhs4" RELATED [OMIM:600467]
xref: MEDGEN:324944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535697 {source="MONDO:equivalentTo"}
xref: OMIM:600467 {source="GARD:0003366", source="MONDO:equivalentTo"}
xref: Orphanet:423 {source="GARD:0003366", source="OMIM:600467"}
xref: UMLS:C1838102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324944"}
is_a: MONDO:0800188 {source="DC-OMIM:600467", source="MESH:C535697", source="OMIM:600467"} ! malignant hyperthermia, susceptibility to
relationship: predisposes_towards MONDO:0018493 {source="OMIM:600467"} ! malignant hyperthermia of anesthesia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4" xsd:anyURI {source="GARD:0003366"}

[Term]
id: MONDO:0010894
name: maturity-onset diabetes of the young type 3
def: "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha." [NCIT:C129742]
subset: gard_rare {source="GARD:10658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diabetes mellitus MODY type 3" RELATED [GARD:0010658]
synonym: "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes" EXACT [NCIT:C129742]
synonym: "HNF1A maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "HNF1A-associated monogenic diabetes" EXACT [NCIT:C129742]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in HNF1A" EXACT []
synonym: "maturity-onset diabetes of the young type 3" EXACT CLINGEN_LABEL []
synonym: "maturity-onset diabetes of the young, type 3" RELATED [MONDO:Lexical, OMIM:600496]
synonym: "MODY hepatocyte nuclear factor-1-alpha related" RELATED [GARD:0010658]
synonym: "MODY type 3" EXACT [DOID:0111102, GARD:0010658]
synonym: "MODY, type 3" RELATED [OMIM:600496]
synonym: "MODY, type III" EXACT [OMIM:600496, OMIM:genemap2]
synonym: "MODY3" EXACT ABBREVIATION [DOID:0111102, MONDO:Lexical, OMIM:600496]
synonym: "type 3 maturity-onset diabetes of the young" RELATED [GARD:0010658]
xref: DOID:0111102 {source="MONDO:equivalentTo"}
xref: GARD:10658 {source="MONDO:GARD"}
xref: MEDGEN:324942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563933 {source="MONDO:equivalentTo"}
xref: NANDO:2201071 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129742 {source="MONDO:equivalentTo"}
xref: OMIM:600496 {source="MONDO:equivalentTo", source="DOID:0111102"}
xref: Orphanet:552 {source="GARD:0010658"}
xref: SCTID:609570008 {source="MONDO:equivalentTo"}
xref: UMLS:C1838100 {source="MEDGEN:324942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018911 {source="DC-OMIM:600496", source="DOID:0111102", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 ! HNF1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 {source="MONDO:mim2gene_medgen"} ! HNF1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3" xsd:anyURI {source="GARD:0010658"}

[Term]
id: MONDO:0010895
name: ABCD syndrome
def: "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)." [DOID:0050600, http://en.wikipedia.org/wiki/ABCD_syndrome, OMIM:600501]
subset: otar {source="MONDO:OTAR"}
synonym: "ABCD syndrome" EXACT [MONDO:Lexical, OMIM:600501]
synonym: "ABCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600501]
synonym: "albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness" RELATED [OMIM:600501]
synonym: "albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT [DOID:0050600]
xref: DOID:0050600 {source="MONDO:equivalentTo"}
xref: MEDGEN:333014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535334 {source="MONDO:equivalentTo"}
xref: OMIM:600501 {source="MONDO:equivalentTo", source="DOID:0050600"}
xref: Orphanet:918 {source="MONDO:equivalentObsolete", source="OMIM:600501"}
xref: UMLS:C1838099 {source="MEDGEN:333014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:0050600", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: disease_has_feature HP:0000407 ! Sensorineural hearing impairment
relationship: disease_has_feature HP:0001022 ! Albinism
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:0050600", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600501"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3180 {source="MONDO:mim2gene_medgen"} ! EDNRB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0010896
name: pigment dispersion syndrome
def: "Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed." [https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome]
subset: gard_rare {source="GARD:4356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glaucoma, pigment-dispersion type" RELATED [OMIM:600510]
synonym: "glaucoma-RELATED pigment dispersion syndrome" RELATED [MONDO:Lexical, OMIM:600510]
synonym: "glaucoma-related pigment dispersion syndrome" EXACT [DOID:0060680]
synonym: "GPDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600510]
synonym: "pigment dispersion syndrome" EXACT [OMIM:600510]
synonym: "pigment-dispersion syndrome" RELATED [GARD:0004356]
synonym: "pigment-dispersion type glaucoma" EXACT [DOID:0060680]
xref: DOID:0060680 {source="MONDO:equivalentTo"}
xref: GARD:4356 {source="MONDO:GARD"}
xref: MEDGEN:220866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563184 {source="MONDO:equivalentTo", source="DOID:0060680"}
xref: NCIT:C187288 {source="MONDO:equivalentTo"}
xref: OMIM:600510 {source="MONDO:equivalentTo", source="DOID:0060680"}
xref: Orphanet:26823 {source="MONDO:equivalentObsolete", source="OMIM:600510"}
xref: SCTID:392133001 {source="MONDO:equivalentTo"}
xref: UMLS:C1271398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220866"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005328 {source="DOID:0060680", source="MESH:C563184/inferred"} ! eye disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome" xsd:anyURI {source="GARD:0004356"}

[Term]
id: MONDO:0010897
name: schizophrenia 3
def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23." [DOID:0070079]
synonym: "schizophrenia 3" EXACT [MONDO:Lexical, OMIM:600511]
synonym: "schizophrenia 3 with or without an affective disorder" RELATED [OMIM:600511]
synonym: "schizophrenia susceptibility locus, chromosome 6-related" RELATED [OMIM:600511]
synonym: "SCZD3" EXACT ABBREVIATION [DOID:0070079, MONDO:Lexical, OMIM:600511]
xref: DOID:0070079 {source="MONDO:equivalentTo"}
xref: MEDGEN:324936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600511 {source="DOID:0070079", source="MONDO:equivalentTo"}
xref: UMLS:C1838069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324936"}
is_a: MONDO:0005090 {source="DC-OMIM:600511", source="DOID:0070079"} ! schizophrenia

[Term]
id: MONDO:0010898
name: autosomal dominant epilepsy with auditory features
def: "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution." [Orphanet:101046]
comment: Editor note: split out generic type
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101046"}
subset: orphanet_rare {source="Orphanet:101046"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADEAF" EXACT ABBREVIATION [Orphanet:101046]
synonym: "ADLTE" EXACT ABBREVIATION [Orphanet:101046]
synonym: "ADPEAF" EXACT ABBREVIATION [Orphanet:101046]
synonym: "Autosomal dominant epilepsy with auditory features" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant epilepsy with auditory features" EXACT [Orphanet:101046]
synonym: "autosomal dominant lateral temporal lobe epilepsy" EXACT [Orphanet:101046]
synonym: "autosomal dominant partial epilepsy with auditory features" RELATED [GARD:0002257]
synonym: "epilepsy, familial temporal lobe 1" NARROW [NCIT:C141441]
synonym: "epilepsy, familial temporal lobe, 1" RELATED [MONDO:Lexical, OMIM:600512]
synonym: "epilepsy, familial temporal lobe, type 1" NARROW [MONDORULE:1, OMIM:600512]
synonym: "epilepsy, lateral temporal lobe, autosomal dominant" RELATED [OMIM:600512]
synonym: "epilepsy, partial, with auditory features" RELATED [OMIM:600512]
synonym: "ETL1" NARROW ABBREVIATION [DOID:0060748, MONDO:Lexical, OMIM:600512]
synonym: "familial temporal lobe epilepsy 1" NARROW [https://github.com/monarch-initiative/mondo/issues/1134]
synonym: "familial temporal lobe epilepsy type 1" NARROW [DOID:0060748, MONDORULE:1]
synonym: "partial epilepsy with auditory aura" EXACT [Orphanet:101046]
synonym: "partial epilepsy with auditory features" EXACT [DOID:0060748, Orphanet:101046]
xref: DOID:0060748 {source="MONDO:equivalentTo"}
xref: GARD:2257 {source="MONDO:GARD"}
xref: MEDGEN:325326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537297 {source="MONDO:equivalentTo"}
xref: NCIT:C141441
xref: Orphanet:101046 {source="MONDO:equivalentTo", source="OMIM:600512", source="DOID:0060748"}
xref: UMLS:C1838062 {source="MONDO:equivalentTo", source="MEDGEN:325326", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="DOID:0060748/inferred", source="MESH:C537297/inferred", source="MONDO:Redundant", source="NCIT:C141441", source="OMIM:600512/inferred"} ! epilepsy
is_a: MONDO:0005115 {source="DC-OMIM:600512", source="DOID:0060748", source="OMIM:600512"} ! temporal lobe epilepsy
is_a: MONDO:0017704 {source="Orphanet:101046"} ! familial partial epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1134" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2614" xsd:anyURI

[Term]
id: MONDO:0010899
name: autosomal dominant nocturnal frontal lobe epilepsy 1
def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 1" EXACT [DOID:0060682, MONDORULE:1]
synonym: "CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ENFL1" EXACT ABBREVIATION [DOID:0060682, MONDO:Lexical, OMIM:600513]
synonym: "epilepsy, nocturnal frontal lobe, 1" RELATED [MONDO:Lexical, OMIM:600513]
synonym: "epilepsy, nocturnal frontal lobe, type 1" EXACT [MONDORULE:1, OMIM:600513]
synonym: "nocturnal frontal lobe epilepsy 1" EXACT [DOID:0060682]
xref: DOID:0060682 {source="MONDO:equivalentTo"}
xref: GARD:15319 {source="MONDO:GARD"}
xref: MEDGEN:324932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563930 {source="MONDO:equivalentTo"}
xref: OMIM:600513 {source="DOID:0060682", source="MONDO:equivalentTo"}
xref: Orphanet:98784 {source="OMIM:600513"}
xref: UMLS:C1838049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324932"}
is_a: MONDO:0000030 {source="DC-OMIM:600513", source="OMIM:600513"} ! sleep-related hypermotor epilepsy
is_a: MONDO:0020300 {source="DOID:0060682", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy
intersection_of: MONDO:0020300 ! autosomal dominant nocturnal frontal lobe epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1958 ! CHRNA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1958 {source="MONDO:mim2gene_medgen"} ! CHRNA4

[Term]
id: MONDO:0010900
name: intrauterine growth retardation with increased mitomycin c sensitivity
subset: gard_rare {source="GARD:5593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intrauterine growth retardation with increased mitomycin c sensitivity" EXACT [OMIM:600546]
xref: GARD:5593 {source="MONDO:GARD"}
xref: MEDGEN:419040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536744 {source="MONDO:equivalentTo"}
xref: OMIM:600546 {source="MONDO:equivalentTo"}
xref: Orphanet:808 {source="OMIM:600546"}
xref: UMLS:C2931307 {source="MEDGEN:419040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019342 {source="Orphanet:808/btnt"} ! Seckel syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600546"} ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity" xsd:anyURI {source="GARD:0005593"}

[Term]
id: MONDO:0010901
name: HEC syndrome
def: "HEC syndrome is characterized by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed." [Orphanet:2119]
comment: Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy
subset: gard_rare {source="GARD:2620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2119"}
subset: ordo_malformation_syndrome {source="Orphanet:2119"}
subset: orphanet_rare {source="Orphanet:2119"}
subset: rare
synonym: "communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts" RELATED [GARD:0002620]
synonym: "HEC syndrome" EXACT [OMIM:600559]
synonym: "hydrocephalus, endocardial fibroelastosis, and cataracts" RELATED [OMIM:600559]
synonym: "hydrocephalus-endocardial fibroelastosis-cataract syndrome" EXACT [Orphanet:2119]
xref: GARD:2620 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2119", source="Orphanet:2119/attributed", source="Orphanet:2119/ntbt"}
xref: MEDGEN:331549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535855 {source="MONDO:equivalentTo"}
xref: OMIM:600559 {source="MONDO:equivalentTo", source="Orphanet:2119", source="Orphanet:2119/e"}
xref: Orphanet:2119 {source="MONDO:equivalentTo", source="OMIM:600559"}
xref: SCTID:721015008 {source="MONDO:equivalentTo"}
xref: UMLS:C1833607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331549"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome" xsd:anyURI {source="GARD:0002620"}

[Term]
id: MONDO:0010902
name: spondyloepiphyseal dysplasia, Reardon type
def: "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." [Orphanet:163662]
subset: gard_rare {source="GARD:16994", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:163662"}
subset: orphanet_rare {source="Orphanet:163662"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spondyloepiphyseal dysplasia with atlantoaxial instability" RELATED [OMIM:600561]
xref: GARD:16994 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:163662", source="Orphanet:163662/attributed", source="Orphanet:163662/ntbt"}
xref: MEDGEN:322238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563472 {source="MONDO:equivalentTo"}
xref: OMIM:600561 {source="MONDO:equivalentTo", source="Orphanet:163662", source="Orphanet:163662/e"}
xref: Orphanet:163662 {source="OMIM:600561", source="MONDO:equivalentTo"}
xref: SCTID:718764004 {source="MONDO:equivalentTo"}
xref: UMLS:C1833603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322238"}
is_a: MONDO:0016761 {source="Orphanet:163662"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0010903
name: craniosynostosis, Adelaide type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "craniosynostosis, Adelaide type" EXACT [MONDO:Lexical, OMIM:600593]
synonym: "CRSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600593]
xref: MEDGEN:371600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563471 {source="MONDO:equivalentTo"}
xref: OMIM:600593 {source="MONDO:equivalentTo"}
xref: UMLS:C1833578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371600"}
is_a: MONDO:0015469 {source="DC-OMIM:600593", source="MESH:C563471"} ! craniosynostosis

[Term]
id: MONDO:0010904
name: setting-Sun phenomenon, familial benign
synonym: "setting-Sun phenomenon, familial benign" EXACT [OMIM:600598]
xref: MEDGEN:318913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563470 {source="MONDO:equivalentTo"}
xref: OMIM:600598 {source="MONDO:equivalentTo"}
xref: UMLS:C1833577 {source="MONDO:equivalentTo", source="MEDGEN:318913", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010905
name: cone-rod dystrophy 1
subset: gard_rare {source="GARD:10651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 1" EXACT [MONDO:Lexical, OMIM:600624]
synonym: "cone-rod dystrophy type 1" EXACT [DOID:0111009, MONDORULE:1]
synonym: "cone-rod retinal dystrophy-1" EXACT [OMIM:600624, OMIM:genemap2]
synonym: "CORD1" EXACT ABBREVIATION [DOID:0111009, MONDO:Lexical, OMIM:600624]
synonym: "CRD1" EXACT ABBREVIATION [DOID:0111009]
synonym: "Crd1" RELATED [OMIM:600624]
xref: DOID:0111009 {source="MONDO:equivalentTo"}
xref: GARD:10651 {source="MONDO:GARD"}
xref: MEDGEN:371596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563469 {source="MONDO:equivalentTo"}
xref: OMIM:600624 {source="DOID:0111009", source="MONDO:equivalentTo"}
xref: Orphanet:1872 {source="OMIM:600624"}
xref: UMLS:C1833564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371596"}
is_a: MONDO:0015993 {source="DC-OMIM:600624", source="DOID:0111009"} ! cone-rod dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1" xsd:anyURI {source="GARD:0010651"}

[Term]
id: MONDO:0010906
name: orofacial cleft 11
def: "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18303", source="MONDO:GARD"}
subset: rare
synonym: "BMP4 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cleft lip with or without cleft palate, nonsyndromic, 11" RELATED [OMIM:600625]
synonym: "cleft Lip, congenital Healed" RELATED [OMIM:600625]
synonym: "congenital Healed cleft lip" RELATED [OMIM:600625]
synonym: "OFC11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600625]
synonym: "orofacial cleft 11" EXACT [MONDO:Lexical, OMIM:600625]
synonym: "orofacial cleft caused by mutation in BMP4" EXACT [MONDO:design_pattern]
synonym: "orofacial cleft type 11" EXACT [MONDORULE:2, OMIM:600625]
xref: DOID:0080404 {source="MONDO:equivalentTo"}
xref: GARD:18303 {source="MONDO:GARD"}
xref: MEDGEN:436944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600625 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:600625"}
xref: UMLS:C2677434 {source="MEDGEN:436944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:600625"} ! orofacial cleft
is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate
intersection_of: MONDO:0000358 ! orofacial cleft
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1071 ! BMP4
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1071 {source="MONDO:mim2gene_medgen"} ! BMP4

[Term]
id: MONDO:0010907
name: familial hypertryptophanemia
def: "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria." [Orphanet:2224]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2224"}
subset: orphanet_rare {source="Orphanet:2224"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hypertryptophanemia" EXACT CLINGEN_LABEL []
synonym: "hypertryptophanemia" BROAD [OMIM:600627, OMIM:genemap2]
synonym: "hypertryptophanemia, familial" RELATED [OMIM:600627]
synonym: "HYPTRP" RELATED ABBREVIATION [OMIM:600627]
xref: DOID:0111703 {source="MONDO:equivalentTo"}
xref: GARD:2871 {source="MONDO:GARD"}
xref: ICD10CM:E70.8 {source="Orphanet:2224/attributed", source="Orphanet:2224/ntbt", source="Orphanet:2224"}
xref: MEDGEN:419177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538393 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"}
xref: OMIM:600627 {source="Orphanet:2224", source="MONDO:equivalentTo", source="Orphanet:2224/e"}
xref: Orphanet:2224 {source="MONDO:equivalentTo", source="OMIM:600627"}
xref: SCTID:721838005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419177"}
is_a: MONDO:0017350 {source="Orphanet:2224"} ! inborn disorder of tryptophan metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11708 {source="MONDO:mim2gene_medgen"} ! TDO2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia" xsd:anyURI {source="GARD:0002871"}

[Term]
id: MONDO:0010908
name: loose anagen syndrome
def: "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." [Orphanet:168]
subset: gard_rare {source="GARD:3287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168"}
subset: orphanet_rare {source="Orphanet:168"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "loose anagen hair syndrome" RELATED [OMIM:600628]
xref: DOID:0111702 {source="MONDO:equivalentTo"}
xref: GARD:3287 {source="MONDO:GARD"}
xref: ICD10CM:L65.1 {source="Orphanet:168/attributed", source="Orphanet:168/ntbt", source="Orphanet:168"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058247 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"}
xref: OMIM:600628 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"}
xref: Orphanet:168 {source="MONDO:equivalentTo", source="OMIM:600628"}
xref: SCTID:238735005 {source="MONDO:equivalentTo"}
xref: UMLS:C0406468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98351"}
is_a: MONDO:0004907 {source="MESH:D058247", source="Orphanet:168"} ! alopecia
relationship: disease_disrupts GO:0042640 ! anagen

[Term]
id: MONDO:0010909
name: UV-sensitive syndrome 1
def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ERCC6 UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UV-sensitive syndrome 1" EXACT [MONDO:Lexical, OMIM:600630]
synonym: "UV-sensitive syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern]
synonym: "UV-sensitive syndrome type 1" EXACT [MONDORULE:1, OMIM:600630]
synonym: "UVSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600630]
xref: GARD:15320 {source="MONDO:GARD"}
xref: MEDGEN:764087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173106 {source="MONDO:equivalentTo"}
xref: OMIM:600630 {source="MONDO:equivalentTo"}
xref: Orphanet:178338 {source="OMIM:600630"}
xref: UMLS:C3551173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764087"}
is_a: MONDO:0015797 {source="DC-OMIM:600630", source="MONDO:Redundant", source="OMIM:600630"} ! UV-sensitive syndrome
intersection_of: MONDO:0015797 ! UV-sensitive syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:600630"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6

[Term]
id: MONDO:0010910
name: enuresis, nocturnal, 1
def: "Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder." []
synonym: "Bedwetting" RELATED [OMIM:600631]
synonym: "ENUR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600631]
synonym: "enuresis, nocturnal, 1" EXACT [MONDO:Lexical, OMIM:600631]
xref: OMIM:600631 {source="MONDO:equivalentTo"}
is_a: MONDO:0000022 {source="DC-OMIM:600631"} ! nocturnal enuresis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010911
name: prolactin-producing pituitary gland adenoma
def: "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." [Orphanet:2965]
subset: gard_rare {source="GARD:4508", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2965"}
subset: orphanet_rare {source="Orphanet:2965"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial prolactinoma" EXACT [DOID:5394]
synonym: "Forbes-Albright syndrome (formerly)" RELATED [GARD:0004508]
synonym: "lactotrope adenoma" EXACT [NCIT:C3342]
synonym: "lactotroph adenoma" EXACT [NCIT:C3342, Orphanet:2965]
synonym: "lactotroph cell adenoma" EXACT [NCIT:C3342]
synonym: "pituitary adenoma, prolactin-secreting" EXACT [DOID:5394, OMIM:600634]
synonym: "pituitary gland prolactinoma" EXACT [NCIT:C3342]
synonym: "pituitary lactotrophic adenoma" EXACT [Orphanet:2965]
synonym: "pituitary prolactinoma" EXACT [NCIT:C3342]
synonym: "PRL producing pituitary gland adenoma" EXACT [NCIT:C3342]
synonym: "PRL-secreting pituitary adenoma" EXACT [Orphanet:2965]
synonym: "PRLoma" EXACT [Orphanet:2965]
synonym: "prolactin producing adenoma of pituitary" EXACT [NCIT:C3342]
synonym: "prolactin producing adenoma of pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactin producing adenoma of the pituitary" EXACT [NCIT:C3342]
synonym: "prolactin producing adenoma of the pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactin producing pituitary adenoma" EXACT [NCIT:C3342]
synonym: "prolactin producing pituitary gland adenoma" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma of pituitary" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma of pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma of the pituitary" EXACT [NCIT:C3342]
synonym: "prolactin secreting adenoma of the pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactin secreting pituitary adenoma" EXACT [NCIT:C3342]
synonym: "prolactin secreting pituitary gland adenoma" EXACT [NCIT:C3342]
synonym: "prolactin-producing pituitary gland adenoma" EXACT [NCIT:C3342]
synonym: "prolactin-secreting pituitary adenoma" EXACT [Orphanet:2965]
synonym: "prolactinoma" EXACT [NCIT:C3342]
synonym: "prolactinoma of pituitary" EXACT [NCIT:C3342]
synonym: "prolactinoma of pituitary gland" EXACT [DOID:5394, NCIT:C3342]
synonym: "prolactinoma of the pituitary" EXACT [NCIT:C3342]
synonym: "prolactinoma of the pituitary gland" EXACT [NCIT:C3342]
synonym: "prolactinoma, familial" RELATED [OMIM:600634]
xref: DOID:5394 {source="MONDO:equivalentTo"}
xref: EFO:1000496 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4508 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:2965", source="Orphanet:2965/nd"}
xref: ICD10CM:E22.1 {source="MONDO:relatedTo", source="Orphanet:2965", source="Orphanet:2965/nd"}
xref: ICDO:8271/0 {source="NCIT:C3342"}
xref: MedDRA:10036832 {source="Orphanet:2965", source="Orphanet:2965/e"}
xref: MEDGEN:10936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015175 {source="MONDO:equivalentTo", source="Orphanet:2965", source="DOID:5394", source="Orphanet:2965/e"}
xref: NANDO:1200378 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3342 {source="EFO:1000496", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5394"}
xref: OMIM:600634 {source="EFO:1000496", source="MONDO:equivalentObsolete", source="DOID:5394"}
xref: Orphanet:2965 {source="MONDO:equivalentTo"}
xref: Orphanet:314777 {source="OMIM:600634"}
xref: SCTID:134209002 {source="MONDO:equivalentTo", source="DOID:5394"}
xref: SCTID:34337008 {source="DOID:5394"}
xref: SCTID:367098005 {source="DOID:5394"}
xref: UMLS:C0033375 {source="MONDO:equivalentTo", source="MEDGEN:10936", source="MONDO:MEDGEN"}
is_a: MONDO:0003430 {source="NCIT:C3342"} ! prolactin producing pituitary tumor
is_a: MONDO:0006373 {source="DOID:5394/inferred", source="MONDO:Redundant", source="NCIT:C3342", source="Orphanet:2965/inferred"} ! pituitary gland adenoma
is_a: MONDO:0017824 {source="Orphanet:314777/btnt"} ! familial isolated pituitary adenoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018404"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/358 {source="MONDO:mim2gene_medgen"} ! AIP

[Term]
id: MONDO:0010912
name: fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CFEOM3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600638]
synonym: "congenital fibrosis of extraocular muscles caused by mutation in TUBB3" EXACT [MONDO:design_pattern]
synonym: "Feom3 locus" RELATED [OMIM:600638]
synonym: "fibrosis of extraocular muscles, congenital, 3A" EXACT [OMIM:600638, OMIM:genemap2]
synonym: "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" EXACT [MONDO:Lexical, OMIM:600638]
synonym: "TUBB3 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081017 {source="MONDO:equivalentTo"}
xref: GARD:15321 {source="MONDO:GARD"}
xref: MEDGEN:412638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567572 {source="MONDO:equivalentTo"}
xref: OMIM:600638 {source="MONDO:equivalentTo"}
xref: Orphanet:45358 {source="OMIM:600638"}
xref: UMLS:C2748801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412638"}
is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:600638", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles
is_a: MONDO:0100154 {source="https://clinicalgenome.org/affiliation/40006/"} ! TUBB3-related tubulinopathy
intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 ! TUBB3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 {source="MONDO:mim2gene_medgen"} ! TUBB3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5506" xsd:anyURI

[Term]
id: MONDO:0010913
name: Caroli disease
def: "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." [Orphanet:53035]
subset: gard_rare {source="GARD:6002", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:896"}
subset: ordo_disorder {source="Orphanet:53035"}
subset: ordo_malformation_syndrome {source="Orphanet:53035"}
subset: orphanet_rare {source="Orphanet:53035"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Caroli disease isolated" RELATED [GARD:0006002]
synonym: "CAROLI disease, isolated" RELATED [OMIM:600643]
synonym: "congenital polycystic dilatation of intrahepatic bile ducts" RELATED [GARD:0006002]
synonym: "cystic dilatation of the intrahepatic biliary tree" RELATED [GARD:0006002]
xref: DOID:0050876 {source="MONDO:equivalentTo"}
xref: EFO:1001286 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6002 {source="MONDO:GARD"}
xref: ICD10CM:Q44.6 {source="Orphanet:53035", source="Orphanet:53035/attributed", source="Orphanet:53035/ntbt"}
xref: MedDRA:10013003 {source="Orphanet:53035", source="Orphanet:53035/e"}
xref: MEDGEN:57924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531647 {source="Orphanet:53035", source="Orphanet:53035/e"}
xref: MESH:D016767 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="Orphanet:53035/e"}
xref: NANDO:2200934 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84619 {source="DOID:0050876", source="MONDO:equivalentTo"}
xref: NORD:896 {source="MONDO:NORD"}
xref: OMIM:600643 {source="Orphanet:53035", source="MONDO:equivalentTo", source="Orphanet:53035/e"}
xref: Orphanet:53035 {source="MONDO:equivalentTo", source="OMIM:600643"}
xref: SCTID:111331000 {source="DOID:0050876"}
xref: SCTID:717232005 {source="MONDO:equivalentTo"}
xref: UMLS:C0162510 {source="MEDGEN:57924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002887 {source="DOID:0050876", source="MESH:D016767/inferred", source="MONDO:Redundant", source="NCIT:C84619/inferred"} ! bile duct disorder
is_a: MONDO:0006322 {source="NCIT:C84619"} ! non-neoplastic bile duct disorder
relationship: excluded_subClassOf MONDO:0015509 {source="MONDO:Redundant", source="Orphanet:53035", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary biliary tract disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6002/caroli-disease" xsd:anyURI {source="GARD:0006002"}

[Term]
id: MONDO:0010914
name: carnitine palmitoyl transferase II deficiency, severe infantile form
def: "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." [Orphanet:228305]
subset: gard_rare {source="GARD:17150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:228305"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form" EXACT [Orphanet:228305]
synonym: "Carnitine palmitoyl transferase deficiency type 2, severe infantile form" EXACT [Orphanet:228305]
synonym: "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form" EXACT [Orphanet:228305]
synonym: "carnitine palmitoyl transferase II deficiency, severe infantile form" EXACT CLINGEN_LABEL []
synonym: "Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia" RELATED [OMIM:600649]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular" RELATED [OMIM:600649]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, infantile" RELATED [OMIM:600649]
synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile" RELATED [OMIM:600649]
synonym: "CPT 2 deficiency, hepatic" RELATED [OMIM:600649]
synonym: "CPT II deficiency, infantile" EXACT [OMIM:600649, OMIM:genemap2]
synonym: "Cpt2 deficiency, infantile" RELATED [OMIM:600649]
synonym: "CPT2, hepatocardiomuscular form" EXACT [Orphanet:228305]
synonym: "CPT2, severe infantile form" EXACT [Orphanet:228305]
synonym: "CPTII, hepatocardiomuscular form" EXACT [Orphanet:228305]
synonym: "CPTII, severe infantile form" EXACT [Orphanet:228305]
xref: GARD:17150 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:228305/attributed", source="Orphanet:228305/ntbt", source="Orphanet:228305"}
xref: MEDGEN:322211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563462 {source="MONDO:equivalentTo"}
xref: OMIM:600649 {source="Orphanet:228305", source="MONDO:equivalentTo", source="Orphanet:228305/e"}
xref: Orphanet:157 {source="OMIM:600649"}
xref: Orphanet:228305 {source="MONDO:equivalentTo", source="OMIM:600649"}
xref: UMLS:C1833511 {source="MEDGEN:322211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015515 {source="DC-OMIM:600649", source="Orphanet:228305"} ! carnitine palmitoyltransferase II deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 {source="MONDO:mim2gene_medgen"} ! CPT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010915
name: autosomal dominant nonsyndromic hearing loss 4A
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18100", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 4A" NARROW [DOID:0110573]
synonym: "autosomal dominant nonsyndromic deafness 4A" NARROW [OMIM:600652]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH14" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 4A" NARROW [DOID:0110573, MONDORULE:4]
synonym: "deafness, autosomal dominant 4" NARROW [OMIM:600652]
synonym: "deafness, autosomal dominant 4A" NARROW [MONDO:Lexical, OMIM:600652]
synonym: "deafness, autosomal dominant 4a" NARROW [OMIM:600652, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 4A" NARROW [MONDORULE:4, OMIM:600652]
synonym: "DFNA4A" NARROW ABBREVIATION [DOID:0110573, MONDO:Lexical, OMIM:600652]
synonym: "MYH14 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110573 {source="MONDO:equivalentTo"}
xref: GARD:18100 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110573"}
xref: MEDGEN:322209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563460 {source="MONDO:equivalentTo"}
xref: OMIM:600652 {source="MONDO:equivalentTo", source="DOID:0110573"}
xref: UMLS:C1833503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322209"}
is_a: MONDO:0019587 {source="DC-OMIM:600652", source="DOID:0110573", source="MONDO:Redundant", source="OMIM:600652"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23212 ! MYH14
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23212 {source="MONDO:mim2gene_medgen"} ! MYH14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010916
name: polycystic kidney disease 3 with or without polycystic liver disease
def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Apkd3" EXACT [DOID:0110860]
synonym: "autosomal dominant polycystic kidney disease caused by mutation in GANAB" EXACT [MONDO:design_pattern]
synonym: "GANAB autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PKD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600666]
synonym: "Pkd3" EXACT [DOID:0110860]
synonym: "polycystic kidney disease 3" EXACT [OMIM:600666]
synonym: "polycystic kidney disease 3 with or without polycystic liver disease" EXACT CLINGEN_LABEL [OMIM:600666]
synonym: "polycystic kidney disease 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:600666]
synonym: "polycystic kidney disease type 3" EXACT [DOID:0110860, MONDORULE:1]
synonym: "polycystic kidney disease, adult, type 3" EXACT [OMIM:600666]
synonym: "polycystic kidney disease, adult, type III" EXACT [DOID:0110860]
synonym: "polycystic kidney disease, type 3" EXACT [OMIM:600666]
xref: DOID:0110860 {source="MONDO:equivalentTo"}
xref: GARD:18598 {source="MONDO:GARD"}
xref: MEDGEN:854672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600666 {source="MONDO:equivalentTo", source="DOID:0110860"}
xref: Orphanet:730 {source="OMIM:600666"}
xref: UMLS:C3887964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854672"}
is_a: MONDO:0004691 {source="DC-OMIM:600666", source="DOID:0110860", source="MONDO:Redundant", source="OMIM:600666"} ! autosomal dominant polycystic kidney disease
intersection_of: MONDO:0004691 ! autosomal dominant polycystic kidney disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4138 ! GANAB
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:600666"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4138 {source="MONDO:mim2gene_medgen"} ! GANAB

[Term]
id: MONDO:0010917
name: chondrocalcinosis 1
subset: gard_rare {source="GARD:6048", source="MONDO:GARD"}
subset: rare
synonym: "CCAL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600668]
synonym: "chondrocalcinosis 1" EXACT [MONDO:Lexical, OMIM:600668]
synonym: "chondrocalcinosis with early-onset osteoarthritis" RELATED [OMIM:600668]
xref: GARD:6048 {source="MONDO:GARD"}
xref: MEDGEN:331527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535938 {source="MONDO:equivalentTo"}
xref: OMIM:600668 {source="MONDO:equivalentTo"}
xref: Orphanet:1416 {source="OMIM:600668"}
xref: UMLS:C1833499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331527"}
is_a: MONDO:0001314 {source="Orphanet:1416/btnt"} ! chondrocalcinosis

[Term]
id: MONDO:0010918
name: epilepsy, idiopathic generalized, susceptibility to, 1
comment: The OMIM entries here are named generically, the same as the PS but it refers to a susceptibility conferred by a specific gene.
subset: predisposition
synonym: "EIG" BROAD ABBREVIATION [MONDO:Lexical, OMIM:600669]
synonym: "EIG1" EXACT [OMIM:600669]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 1" EXACT [OMIM:600669]
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:412636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562694 {source="MONDO:relatedTo"}
xref: OMIM:600669 {source="MONDO:includedEntryInOMIM"}
xref: SCTID:36803009 {source="MONDO:equivalentTo"}
xref: UMLS:C2748799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412636"}
is_a: MONDO:0020573 {source="OMIM:600669"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005579 {source="DC-OMIM:600669", source="MESH:C562694", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:600669"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4147" xsd:anyURI

[Term]
id: MONDO:0010919
name: varicella, severe recurrent
synonym: "varicella, severe recurrent" EXACT [OMIM:600670]
xref: MEDGEN:322202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563458 {source="MONDO:equivalentTo"}
xref: OMIM:600670 {source="MONDO:equivalentTo"}
xref: UMLS:C1833487 {source="MONDO:equivalentTo", source="MEDGEN:322202", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010920
name: microtia
def: "A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal." [https://orcid.org/0000-0001-5208-3432, Orphanet:83463]
subset: gard_rare {source="GARD:431", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83463"}
subset: ordo_morphological_anomaly {source="Orphanet:83463"}
subset: orphanet_rare {source="Orphanet:83463"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anotia" NARROW [MESH:D065817]
synonym: "congenital microtias" EXACT [MESH:D065817]
synonym: "M-A" EXACT [GARD:0000431]
synonym: "microtia, congenital" EXACT [MESH:D065817]
synonym: "microtia-anotia" EXACT [OMIM:600674]
synonym: "microtias, congenital" EXACT [MESH:D065817]
xref: GARD:431 {source="MONDO:GARD"}
xref: ICD10CM:Q17.2 {source="Orphanet:83463", source="MONDO:equivalentTo", source="Orphanet:83463/e", source="Orphanet:83463/specific"}
xref: icd11.foundation:2005415414 {source="Orphanet:83463", source="MONDO:equivalentTo"}
xref: ICD9:744.23 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10027555 {source="Orphanet:83463", source="Orphanet:83463/e"}
xref: MEDGEN:322201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537772 {source="Orphanet:83463", source="MONDO:equivalentObsolete", source="Orphanet:83463/e"}
xref: MESH:D065817 {source="MONDO:equivalentTo"}
xref: OMIM:600674 {source="Orphanet:83463", source="MONDO:equivalentTo", source="Orphanet:83463/e"}
xref: Orphanet:83463 {source="OMIM:600674", source="MONDO:equivalentTo"}
xref: Orphanet:93976 {source="OMIM:600674", source="MONDO:directSiblingOf"}
xref: SCTID:35045004 {source="MONDO:equivalentTo"}
xref: UMLS:C1833486 {source="MEDGEN:322201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0010921
name: nasal dermoid cyst
def: "A dermoid cyst that involves the nose." [MONDO:patterns/location]
subset: gard_rare {source="GARD:16970", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141103"}
subset: ordo_morphological_anomaly {source="Orphanet:141103"}
subset: orphanet_rare {source="Orphanet:141103"}
subset: rare
synonym: "dermoid cysts, familial frontonasal" RELATED [OMIM:600679]
synonym: "nasal dermoid sinus cyst" EXACT [Orphanet:141103]
xref: GARD:16970 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141103", source="Orphanet:141103/ntbt"}
xref: MEDGEN:371575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563455 {source="MONDO:equivalentTo"}
xref: OMIM:600679 {source="MONDO:equivalentTo", source="Orphanet:141103", source="Orphanet:141103/e"}
xref: Orphanet:141103 {source="MONDO:equivalentTo", source="OMIM:600679"}
xref: UMLS:C1833473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371575"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015476 {source="Orphanet:141103"} ! cysts and fistulae of the face and oral cavity
intersection_of: MONDO:0002378 ! dermoid cyst
intersection_of: disease_has_location UBERON:0000004 ! nose

[Term]
id: MONDO:0010922
name: Satoyoshi syndrome
def: "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system." [https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome]
subset: gard_rare {source="GARD:160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3130"}
subset: orphanet_rare {source="Orphanet:3130"}
subset: rare
synonym: "Komuragaeri disease" EXACT [OMIM:600705, Orphanet:3130]
synonym: "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities" RELATED [GARD:0000160]
synonym: "muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities" RELATED OMO:0003005 []
synonym: "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" RELATED [OMIM:600705]
synonym: "Satoyoshi syndrome" EXACT [OMIM:600705]
xref: GARD:160 {source="MONDO:GARD"}
xref: MedDRA:10070579 {source="Orphanet:3130/e", source="Orphanet:3130"}
xref: MEDGEN:318882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536616 {source="Orphanet:3130/e", source="MONDO:equivalentTo", source="Orphanet:3130"}
xref: OMIM:600705 {source="Orphanet:3130/e", source="MONDO:equivalentTo", source="Orphanet:3130"}
xref: Orphanet:3130 {source="MONDO:equivalentTo", source="OMIM:600705"}
xref: SCTID:763630007 {source="MONDO:equivalentTo"}
xref: UMLS:C1833454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318882"}
is_a: MONDO:0004907 {source="MESH:C536616", source="Orphanet:3130"} ! alopecia
is_a: MONDO:0005020 {source="Orphanet:3130"} ! intestinal disorder
is_a: MONDO:0019852 {source="Orphanet:3130"} ! inherited primary ovarian failure
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome" xsd:anyURI {source="GARD:0000160"}

[Term]
id: MONDO:0010923
name: proximal myopathy with focal depletion of mitochondria
subset: gard_rare {source="GARD:17956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521305"}
subset: orphanet_rare {source="Orphanet:521305"}
subset: rare
synonym: "proximal myopathy with focal depletion of mitochondria" EXACT [OMIM:600706]
xref: GARD:17956 {source="MONDO:GARD"}
xref: MEDGEN:318881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563453 {source="MONDO:equivalentTo"}
xref: OMIM:600706 {source="MONDO:equivalentTo", source="Orphanet:521305"}
xref: Orphanet:521305 {source="MONDO:equivalentTo"}
xref: UMLS:C1833453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318881"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1938 {source="Orphanet:521305"} ! CHKB

[Term]
id: MONDO:0010924
name: D-2-hydroxyglutaric aciduria
def: "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." [Orphanet:79315]
subset: gard_rare {source="GARD:5661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79315"}
subset: orphanet_rare {source="Orphanet:79315"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "D-2-HGA" EXACT [Orphanet:79315]
synonym: "D-2-hydroxyglutaric acidemia" EXACT [Orphanet:79315]
synonym: "D-2-hydroxyglutaric aciduria 1" RELATED [MONDO:Lexical, OMIM:600721]
synonym: "D-2-hydroxyglutaric aciduria type 1" EXACT [MONDORULE:1, OMIM:600721]
synonym: "D2HA" RELATED ABBREVIATION [GARD:0005661]
synonym: "D2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600721]
xref: DOID:0050575 {source="MONDO:equivalentTo"}
xref: GARD:5661 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:79315", source="Orphanet:79315/attributed", source="Orphanet:79315/ntbt"}
xref: MEDGEN:322192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:600721 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:79315 {source="MONDO:equivalentTo", source="OMIM:600721"}
xref: SCTID:237960000 {source="MONDO:equivalentTo"}
xref: UMLS:C1833429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322192"}
is_a: MONDO:0016001 {source="DOID:0050575", source="Orphanet:79315"} ! 2-hydroxyglutaric aciduria
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600721"} ! inherited

[Term]
id: MONDO:0010925
name: velo-facial-skeletal syndrome
def: "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." [Orphanet:3424]
subset: gard_rare {source="GARD:5469", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3424"}
subset: ordo_malformation_syndrome {source="Orphanet:3424"}
subset: orphanet_rare {source="Orphanet:3424"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "VELOFACIOSKELETAL syndrome" RELATED [OMIM:600736]
xref: GARD:5469 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3424/attributed", source="Orphanet:3424/ntbt", source="Orphanet:3424"}
xref: MEDGEN:322177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536536 {source="MONDO:equivalentTo"}
xref: OMIM:600736 {source="Orphanet:3424", source="MONDO:equivalentTo", source="Orphanet:3424/e"}
xref: Orphanet:3424 {source="MONDO:equivalentTo", source="OMIM:600736"}
xref: SCTID:763616002 {source="MONDO:equivalentTo"}
xref: UMLS:C1833380 {source="MEDGEN:322177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3424"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0010926
name: familial hypocalciuric hypercalcemia 3
def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:2878", source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:101050"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AP2S1 familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial benign hypercalcemia, Oklahoma variant" RELATED [GARD:0002878]
synonym: "familial benign hypercalcemia, type 3" RELATED [OMIM:600740]
synonym: "familial hypocalciuric hypercalcemia caused by mutation in AP2S1" EXACT [MONDO:design_pattern]
synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [DOID:0060702, MONDORULE:1]
synonym: "FBH3" RELATED ABBREVIATION [GARD:0002878]
synonym: "FBHOk" RELATED [GARD:0002878]
synonym: "FHH type 3" EXACT [DOID:0060702, Orphanet:101050]
synonym: "HHC3" EXACT ABBREVIATION [DOID:0060702, MONDO:Lexical, OMIM:600740]
synonym: "hpocalciuric hypercalcemia, type III" EXACT [OMIM:600740, OMIM:genemap2]
synonym: "hypercalcemia, familial benign, Oklahoma type" RELATED [OMIM:600740]
synonym: "hypercalcemia, familial benign, type 3" RELATED [OMIM:600740]
synonym: "hypocalciuric hypercalcemia type III" EXACT [DOID:0060702]
synonym: "hypocalciuric hypercalcemia, familial, type 3" RELATED [GARD:0002878, OMIM:600740]
synonym: "hypocalciuric hypercalcemia, familial, type III" RELATED [MONDO:Lexical, OMIM:600740]
xref: DOID:0060702 {source="MONDO:equivalentTo"}
xref: GARD:2878 {source="MONDO:GARD"}
xref: ICD10CM:E83.5 {source="Orphanet:101050", source="DOID:0060702", source="Orphanet:101050/attributed", source="Orphanet:101050/ntbt"}
xref: MEDGEN:322173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537147 {source="Orphanet:101050/e", source="MONDO:equivalentTo", source="Orphanet:101050"}
xref: OMIM:600740 {source="Orphanet:101050/e", source="MONDO:equivalentTo", source="Orphanet:101050", source="DOID:0060702"}
xref: Orphanet:101050 {source="OMIM:600740", source="MONDO:equivalentTo", source="DOID:0060702"}
xref: Orphanet:405 {source="OMIM:600740"}
xref: UMLS:C1833372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322173"}
is_a: MONDO:0018458 {source="DC-OMIM:600740", source="DOID:0060702", source="MONDO:Redundant", source="OMIM:600740", source="Orphanet:101050"} ! familial hypocalciuric hypercalcemia
intersection_of: MONDO:0018458 ! familial hypocalciuric hypercalcemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/565 ! AP2S1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/565 {source="MONDO:mim2gene_medgen"} ! AP2S1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010927
name: orofacial cleft 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cleft lip with or without cleft palate, nonsyndromic, 3" RELATED [OMIM:600757]
synonym: "OFC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600757]
synonym: "orofacial cleft 3" EXACT [MONDO:Lexical, OMIM:600757]
xref: DOID:0080397 {source="MONDO:equivalentTo"}
xref: MEDGEN:318860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563448 {source="MONDO:equivalentTo"}
xref: OMIM:600757 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:600757"}
xref: UMLS:C1833369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318860"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:600757"} ! orofacial cleft
is_a: MONDO:0004747 {source="MESH:C563448"} ! cleft lip
is_a: MONDO:0016064 {source="MESH:C563448"} ! cleft palate
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0010928
name: dwarfism, familial, with muscle spasms
synonym: "dwarfism familial with muscle spasms" RELATED [GARD:0010610]
synonym: "dwarfism, familial, with muscle spasms" EXACT [OMIM:600771]
synonym: "familial dwarfism and painful muscle spasms" RELATED [GARD:0010610]
xref: MEDGEN:322168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563447 {source="MONDO:equivalentTo"}
xref: OMIM:600771 {source="MONDO:equivalentTo"}
xref: UMLS:C1833341 {source="MEDGEN:322168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563447/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10610/dwarfism-familial-with-muscle-spasms" xsd:anyURI {source="GARD:0010610"}

[Term]
id: MONDO:0010929
name: craniosynostosis 4
def: "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "craniosynostosis 4" EXACT [MONDO:Lexical, OMIM:600775]
synonym: "craniosynostosis caused by mutation in ERF" EXACT [MONDO:design_pattern]
synonym: "craniosynostosis type 4" EXACT [MONDORULE:1, OMIM:600775]
synonym: "CRS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600775]
synonym: "ERF craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ERF-related craniosynostosis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40059/, PMID:23354439]
xref: MEDGEN:322167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600775 {source="MONDO:equivalentTo"}
xref: Orphanet:2343 {source="MONDO:relatedTo", source="OMIM:600775"}
xref: Orphanet:3267 {source="MONDO:relatedTo", source="OMIM:600775"}
xref: Orphanet:35093 {source="MONDO:relatedTo", source="OMIM:600775"}
xref: UMLS:C1833340 {source="MEDGEN:322167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MONDO:Redundant", source="OMIM:600775"} ! craniosynostosis
intersection_of: MONDO:0015469 ! craniosynostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3444 ! ERF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3444 {source="MONDO:mim2gene_medgen"} ! ERF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0010930
name: anophthalmia plus syndrome
def: "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." [Orphanet:1104]
subset: gard_rare {source="GARD:719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1104"}
subset: ordo_malformation_syndrome {source="Orphanet:1104"}
subset: orphanet_rare {source="Orphanet:1104"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder" RELATED [GARD:0000719]
synonym: "anophthalmia-plus syndrome" RELATED [OMIM:600776]
synonym: "Fryns anophthalmia syndrome" RELATED [GARD:0000719]
synonym: "Fryns microphthalmia syndrome" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104]
synonym: "Leichtman Wood Rohn syndrome" RELATED [GARD:0000719]
synonym: "microphthalmia with facial clefting" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104]
xref: GARD:719 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1104", source="Orphanet:1104/attributed", source="Orphanet:1104/ntbt"}
xref: MEDGEN:322166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537767 {source="MONDO:equivalentTo", source="Orphanet:1104", source="Orphanet:1104/e"}
xref: OMIM:600776 {source="GARD:0000719", source="MONDO:equivalentTo", source="Orphanet:1104", source="Orphanet:1104/e"}
xref: Orphanet:1104 {source="GARD:0000719", source="MONDO:equivalentTo", source="OMIM:600776"}
xref: SCTID:720496006 {source="MONDO:equivalentTo"}
xref: UMLS:C1833339 {source="MEDGEN:322166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://github.com/monarch-initiative/mondo/issues/140", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1104"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1104", source="Orphanet:1104/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome" xsd:anyURI {source="GARD:0000719"}

[Term]
id: MONDO:0010931
name: vitamin D-dependent rickets, type 2B
def: "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations." [NCIT:C131076, PMID:17071612]
subset: gard_rare {source="GARD:18170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia" EXACT [NCIT:C131076]
synonym: "VDDR2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600785]
synonym: "vitamin D dependent rickets 2b" EXACT [NCIT:C131076]
synonym: "vitamin D receptor signaling defect rickets" EXACT [NCIT:C131076]
synonym: "vitamin D receptor signalling defect rickets" EXACT OMO:0003005 []
synonym: "vitamin D resistant rickets" EXACT [NCIT:C131076]
synonym: "vitamin D-dependent rickets type II without alopecia" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor" RELATED [MONDO:Lexical, OMIM:600785]
xref: DOID:0080885 {source="MONDO:equivalentTo"}
xref: GARD:18170 {source="MONDO:GARD"}
xref: MEDGEN:411667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200779 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131076 {source="MONDO:equivalentTo"}
xref: OMIM:600785 {source="MONDO:equivalentTo"}
xref: Orphanet:93160 {source="OMIM:600785"}
xref: SCTID:237895001 {source="MONDO:equivalentTo"}
xref: UMLS:C2748783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411667"}
is_a: MONDO:0005520 {source="DC-OMIM:600785", source="MONDO:Redundant", source="NCIT:C131076"} ! rickets
is_a: MONDO:0019642 {source="Orphanet:93160/btnt"} ! vitamin D-dependent rickets, type 2
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0010932
name: progressive bifocal chorioretinal atrophy
def: "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression." [Orphanet:75373]
subset: gard_rare {source="GARD:10123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75373"}
subset: orphanet_rare {source="Orphanet:75373"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chorioretinal atrophy, progressive bifocal" RELATED [OMIM:600790]
synonym: "CRAPB" EXACT ABBREVIATION [Orphanet:75373]
synonym: "Crapb" RELATED [OMIM:600790]
synonym: "PBCRA" EXACT ABBREVIATION [Orphanet:75373]
synonym: "progressive bifocal chorioretinal atrophy" EXACT [OMIM:600790]
xref: GARD:10123 {source="MONDO:GARD"}
xref: MEDGEN:371537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535356 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"}
xref: OMIM:600790 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"}
xref: Orphanet:75373 {source="MONDO:equivalentTo", source="OMIM:600790"}
xref: SCTID:719266007 {source="MONDO:equivalentTo"}
xref: UMLS:C1833321 {source="MEDGEN:371537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="Orphanet:75373"} ! inherited retinal dystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy" xsd:anyURI {source="GARD:0010123"}

[Term]
id: MONDO:0010933
name: autosomal recessive nonsyndromic hearing loss 4
def: "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes." [DOID:0110498, OMIM:600791, PMID:9500541]
subset: gard_rare {source="GARD:22584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW [DOID:0110498]
synonym: "autosomal recessive nonsyndromic deafness 4" NARROW [OMIM:600791]
synonym: "autosomal recessive nonsyndromic deafness type 4" NARROW [DOID:0110498, MONDORULE:1]
synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct" NARROW [MONDO:Lexical, OMIM:600791, OMIM:genemap2]
synonym: "DFNB4" NARROW ABBREVIATION [DOID:0110498, MONDO:Lexical, OMIM:600791]
synonym: "dilated vestibular aqueduct" RELATED [OMIM:600791]
synonym: "enlarged vestibular aqueduct" EXACT [OMIM:600791, OMIM:genemap2]
synonym: "enlarged vestibular aqueduct, digenic" EXACT [OMIM:600791, OMIM:genemap2]
synonym: "neurosensory nonsyndromic recessive deafness 4" NARROW [OMIM:600791]
xref: DOID:0110498 {source="MONDO:equivalentTo"}
xref: GARD:22584 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110498"}
xref: MEDGEN:761234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566366 {source="MONDO:equivalentTo"}
xref: OMIM:600791 {source="MONDO:equivalentTo", source="DOID:0110498"}
xref: Orphanet:90636 {source="OMIM:600791"}
xref: UMLS:C3538946 {source="MONDO:equivalentTo", source="MEDGEN:761234", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:600791", source="DOID:0110498", source="MONDO:Redundant", source="OMIM:600791"} ! hearing loss, autosomal recessive
relationship: disease_has_feature HP:0011387 ! Enlarged vestibular aqueduct
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010934
name: obsolete DFNB5
is_obsolete: true
replaced_by: MONDO:0000912

[Term]
id: MONDO:0010935
name: obsolete neuronopathy, distal hereditary motor, type 5A
comment: OMIM merged these.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2354" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015353

[Term]
id: MONDO:0010936
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 7
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15322", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS17" RELATED EXCLUDE [DOID:0060208, MONDO:Lexical, OMIM:614696]
synonym: "amyotrophic lateral sclerosis 17" RELATED EXCLUDE [DOID:0060208, MONDO:Lexical, OMIM:614696]
synonym: "amyotrophic lateral sclerosis caused by mutation in CHMP2B" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 17" RELATED EXCLUDE [MONDORULE:2, OMIM:614696]
synonym: "amyotrophic lateral sclerosis, Chmp2B-related" EXACT [OMIM:614696]
synonym: "CHMP2B amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [DOID:0060208, OMIM:614696]
synonym: "dementia, familial nonspecific" RELATED [OMIM:600795]
synonym: "Dmt1" RELATED [OMIM:600795]
synonym: "frontotemporal dementia, chromosome 3-linked" EXACT [MONDO:Lexical, OMIM:600795]
synonym: "FTD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600795]
xref: DOID:0060208 {source="MONDO:equivalentObsolete"}
xref: DOID:0111227 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:15322 {source="MONDO:GARD"}
xref: ICD9:331.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:318833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563708 {source="MONDO:equivalentTo"}
xref: MESH:C579991 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:600795 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:614696 {source="MONDO:equivalentObsolete", source="DOID:0060208"}
xref: Orphanet:275864 {source="OMIM:600795"}
xref: Orphanet:282 {source="OMIM:600795"}
xref: Orphanet:803 {source="OMIM:614696"}
xref: SCTID:702393003 {source="MONDO:equivalentTo"}
xref: UMLS:C1833296 {source="MEDGEN:318833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DOID:0060208", source="MESH:C563708", source="MONDO:Redundant", source="OMIM:600795", source="OMIM:614696"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017160 {source="Orphanet:275864/btnt"} ! behavioral variant of frontotemporal dementia
is_a: MONDO:0030923 {source="OMIM:600795"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24537 ! CHMP2B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24537 {source="MONDO:mim2gene_medgen"} ! CHMP2B

[Term]
id: MONDO:0010937
name: isoproterenol-mediated vasodilatation
synonym: "isoproterenol-mediated vasodilatation" EXACT [OMIM:600801]
xref: MEDGEN:331475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600801 {source="MONDO:equivalentTo"}
xref: UMLS:C1833276 {source="MONDO:equivalentTo", source="MEDGEN:331475", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010938
name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
def: "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." [Orphanet:35078]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35078"}
subset: orphanet_rare {source="Orphanet:35078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCID, autosomal recessive, T-negative/B-positive type" EXACT [OMIM:600802, OMIM:genemap2]
synonym: "SCID, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:600802]
synonym: "severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency" RELATED []
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE" RELATED [OMIM:600802]
synonym: "T-B+ SCID due to JAK3 deficiency" EXACT [Orphanet:35078]
synonym: "T-B+ severe combined immunodeficiency due to JAK3 deficiency" EXACT CLINGEN_LABEL []
synonym: "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency" EXACT []
xref: GARD:16632 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:35078", source="Orphanet:35078/attributed", source="Orphanet:35078/ntbt"}
xref: MEDGEN:331474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563440 {source="MONDO:equivalentTo"}
xref: OMIM:600802 {source="Orphanet:35078/e", source="MONDO:equivalentTo", source="Orphanet:35078"}
xref: Orphanet:35078 {source="MONDO:equivalentTo", source="OMIM:600802"}
xref: SCTID:718107000 {source="MONDO:equivalentTo"}
xref: UMLS:C1833275 {source="MEDGEN:331474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015974 {source="DC-OMIM:600802", source="MESH:C563440", source="MONDO:0010938/inferred", source="MONDO:Redundant", source="Orphanet:35078/inferred"} ! severe combined immunodeficiency
is_a: MONDO:0031520 {source="OMIM:600802"} ! familial severe combined immunodeficiency
is_a: MONDO:0044200 {source="Orphanet:35078", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6193 {source="MONDO:mim2gene_medgen"} ! JAK3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010939
name: low phospholipid associated cholelithiasis
def: "Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years." [Orphanet:69663]
subset: gard_rare {source="GARD:16683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69663"}
subset: orphanet_rare {source="Orphanet:69663"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABCB4 gene mutation-associated cholelithiasis" EXACT [Orphanet:69663]
synonym: "cholelithiasis with ABCB4 gene mutation" EXACT [Orphanet:69663]
synonym: "cholelithiasis, Low phospholipid-associated" RELATED [OMIM:600803]
synonym: "gallbladder disease 1" RELATED [MONDO:Lexical, OMIM:600803]
synonym: "gallbladder disease type 1" EXACT [MONDORULE:1, OMIM:600803]
synonym: "GBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600803]
synonym: "LPAC" EXACT ABBREVIATION [Orphanet:69663]
xref: GARD:16683 {source="MONDO:GARD"}
xref: MedDRA:10068936 {source="Orphanet:69663/e", source="Orphanet:69663"}
xref: MEDGEN:760527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600803 {source="Orphanet:69663/e", source="MONDO:equivalentTo", source="Orphanet:69663"}
xref: Orphanet:69663 {source="MONDO:equivalentTo", source="OMIM:600803"}
xref: SCTID:715577009 {source="MONDO:equivalentTo"}
xref: UMLS:C2609268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760527"}
is_a: MONDO:0002155 {source="OMIM:600803"} ! cholecystitis
is_a: MONDO:0005281 {source="DC-OMIM:600803", source="MONDO:Redundant", source="OMIM:600803", source="OMIM:600803/inferred"} ! gallbladder disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4

[Term]
id: MONDO:0010940
name: inherited susceptibility to asthma
subset: predisposition
synonym: "asthma, bronchial" RELATED [OMIM:600807]
synonym: "asthma, diminished response to Antileukotriene treatment 1N" RELATED [OMIM:600807]
synonym: "asthma, nocturnal, susceptibility to" EXACT [OMIM:600807, OMIM:genemap2]
synonym: "asthma, protection against" RELATED [OMIM:600807]
synonym: "asthma, susceptibility to" RELATED [OMIM:600807]
synonym: "asthma-related traits, susceptibility to" RELATED [OMIM:600807]
xref: MEDGEN:358271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200197 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:600807 {source="MONDO:equivalentTo"}
xref: UMLS:C1869116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358271"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0004979 ! asthma
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010941
name: nocturnal enuresis, 2
def: "Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred." []
synonym: "ENUR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600808]
synonym: "enuresis, nocturnal, 2" RELATED [MONDO:Lexical, OMIM:600808]
xref: MEDGEN:331473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563439 {source="MONDO:equivalentTo"}
xref: OMIM:600808 {source="MONDO:equivalentTo"}
xref: UMLS:C1833268 {source="MEDGEN:331473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000022 {source="DC-OMIM:600808"} ! nocturnal enuresis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010942
name: obsolete eukaryotic translation elongation factor 1 alpha-1-like 14
synonym: "EEF1A1L14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600841]
synonym: "eukaryotic translation elongation factor 1 ALPHA-1-like 14" RELATED [MONDO:Lexical, OMIM:600841]
synonym: "eukaryotic translation elongation Factor 1 Alpha-1-like type 14" EXACT [MONDORULE:2, OMIM:600841]
synonym: "prostatic carcinoma tumor-inducing Gene 1" RELATED [OMIM:600841]
xref: OMIM:600841 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0010943
name: schizophrenia 4
def: "A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21." [DOID:0070080]
synonym: "schizophrenia 4" EXACT [MONDO:Lexical, OMIM:600850]
synonym: "schizophrenia susceptibility locus, chromosome 22Q11-related" RELATED [OMIM:600850]
synonym: "schizophrenia type 4" EXACT [MONDORULE:1, OMIM:600850]
synonym: "schizophrenia, susceptibility to, 4" EXACT [OMIM:600850, OMIM:genemap2]
synonym: "SCZD4" EXACT ABBREVIATION [DOID:0070080, MONDO:Lexical, OMIM:600850]
xref: DOID:0070080 {source="MONDO:equivalentTo"}
xref: MEDGEN:371517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600850 {source="MONDO:equivalentTo", source="DOID:0070080"}
xref: UMLS:C1833247 {source="MEDGEN:371517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100182 {source="DC-OMIM:600850", source="DOID:0070080", source="MONDO:Redundant"} ! schizophrenia, susceptibility to
intersection_of: MONDO:0100182 ! schizophrenia, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 ! PRODH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 {source="MONDO:mim2gene_medgen"} ! PRODH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010944
name: mitochondrial import-stimulating factor
synonym: "mitochondrial import-stimulating factor" EXACT [OMIM:600851]
synonym: "MSF" RELATED ABBREVIATION [OMIM:600851]
xref: MEDGEN:331468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600851 {source="MONDO:equivalentTo"}
xref: UMLS:C1833246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331468"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010945
name: retinitis pigmentosa 17
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10387", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CA4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 17" EXACT [MONDO:Lexical, OMIM:600852]
synonym: "retinitis pigmentosa caused by mutation in CA4" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 17" EXACT [DOID:0110404, MONDORULE:2, OMIM:600852]
synonym: "RP 17" RELATED [GARD:0010387]
synonym: "RP17" EXACT ABBREVIATION [DOID:0110404, MONDO:Lexical, OMIM:600852]
xref: DOID:0110404 {source="MONDO:equivalentTo"}
xref: GARD:10387 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110404", source="MONDO:relatedTo"}
xref: MEDGEN:322153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563437 {source="MONDO:equivalentTo"}
xref: OMIM:600852 {source="DOID:0110404", source="MONDO:equivalentTo"}
xref: UMLS:C1833245 {source="MEDGEN:322153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:600852", source="DOID:0110404", source="MESH:C563437", source="MONDO:Redundant", source="OMIM:600852"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1375 ! CA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1375 {source="MONDO:mim2gene_medgen"} ! CA4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17" xsd:anyURI {source="GARD:0010387"}

[Term]
id: MONDO:0010946
name: hypertrophic cardiomyopathy 6
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, familial hypertrophic 6" EXACT [DOID:0110312]
synonym: "cardiomyopathy, familial hypertrophic, 6" RELATED [MONDO:Lexical, OMIM:600858]
synonym: "cardiomyopathy, familial hypertrophic, type 6" EXACT [MONDORULE:1, OMIM:600858]
synonym: "cardiomyopathy, hypertrophic 6" EXACT [OMIM:600858, OMIM:genemap2]
synonym: "CMH6" EXACT ABBREVIATION [DOID:0110312, MONDO:Lexical, OMIM:600858]
synonym: "hypertrophic cardiomyopathy 6" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in PRKAG2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 6" EXACT [DOID:0110312, MONDORULE:1]
synonym: "PRKAG2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110312 {source="MONDO:equivalentTo"}
xref: MEDGEN:331466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563436 {source="MONDO:equivalentTo"}
xref: OMIM:600858 {source="MONDO:equivalentTo", source="DOID:0110312"}
xref: Orphanet:155 {source="OMIM:600858"}
xref: UMLS:C1833236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331466"}
is_a: MONDO:0005045 {source="DC-OMIM:600858", source="DOID:0110312", source="MESH:C563436/inferred", source="MONDO:Redundant", source="OMIM:600858"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C563436", source="MONDO:OMIM", source="OMIM:600858"} ! familial hypertrophic cardiomyopathy
is_a: MONDO:0800484 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2-related cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 ! PRKAG2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="MONDO:mim2gene_medgen"} ! PRKAG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6446" xsd:anyURI

[Term]
id: MONDO:0010947
name: Budd-Chiari syndrome
def: "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." [Orphanet:131]
subset: gard_rare {source="GARD:5968", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:131"}
subset: orphanet_rare {source="Orphanet:131"}
subset: rare
synonym: "BDCHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600880]
synonym: "Budd-Chiari syndrome" EXACT [MONDO:Lexical, OMIM:600880]
synonym: "Budd-Chiari syndrome, somatic" EXACT [OMIM:600880, OMIM:genemap2]
synonym: "membranous obstruction of Inferior vena cava" RELATED [OMIM:600880]
synonym: "membranous obstruction of the inferior vena cava" RELATED [GARD:0005968]
xref: GARD:5968 {source="MONDO:GARD"}
xref: ICD10CM:I82.0 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"}
xref: icd11.foundation:1300118676 {source="MONDO:equivalentTo", source="Orphanet:131"}
xref: ICD9:453.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10006537 {source="Orphanet:131/e", source="Orphanet:131"}
xref: MEDGEN:163632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006502 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"}
xref: NANDO:1200437 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:600880 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"}
xref: Orphanet:131 {source="OMIM:600880", source="MONDO:equivalentTo"}
xref: SCTID:82385007 {source="MONDO:equivalentTo"}
xref: UMLS:C0856761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163632"}
is_a: MONDO:0005154 ! liver disorder
relationship: disease_has_location UBERON:0006877 ! vasculature of liver
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome" xsd:anyURI {source="GARD:0005968"}

[Term]
id: MONDO:0010948
name: cataract 10 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 10, multiple types" RELATED [MONDO:Lexical, OMIM:600881]
synonym: "cataract, congenital zonular, with sutural opacities" RELATED [OMIM:600881]
synonym: "CCZS" NARROW ABBREVIATION [DOID:0110258]
synonym: "congenital zonular cataract with sutural opacities" NARROW [DOID:0110258]
synonym: "CRYBA1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT10" EXACT ABBREVIATION [DOID:0110258, MONDO:Lexical, OMIM:600881]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA1" EXACT [MONDO:design_pattern]
xref: DOID:0110258 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110258"}
xref: MEDGEN:318817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563435 {source="MONDO:equivalentTo"}
xref: OMIM:600881 {source="DOID:0110258", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:600881"}
xref: Orphanet:98985 {source="MONDO:relatedTo", source="OMIM:600881"}
xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:600881"}
xref: UMLS:C1833229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318817"}
is_a: MONDO:0005129 {source="DOID:0110258", source="MESH:C563435", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:600881"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2394 ! CRYBA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2394 {source="MONDO:mim2gene_medgen"} ! CRYBA1

[Term]
id: MONDO:0010949
name: Charcot-Marie-Tooth disease type 2B
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." [Orphanet:99936]
subset: gard_rare {source="GARD:9192", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99936"}
subset: orphanet_rare {source="Orphanet:99936"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT [DOID:0110159]
synonym: "Charcot Marie Tooth disease type 2B" RELATED [GARD:0009192]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2B" RELATED [OMIM:600882]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B" RELATED [GARD:0009192, MONDO:Lexical, OMIM:600882]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B" RELATED [GARD:0009192]
synonym: "Charcot-Marie-Tooth disease, type 2B" EXACT [OMIM:600882, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2B" EXACT [DOID:0110159]
synonym: "Charcot-Marie-Tooth neuropathy, type 2B" RELATED [OMIM:600882]
synonym: "CMT 2B" RELATED [GARD:0009192]
synonym: "CMT2B" EXACT ABBREVIATION [DOID:0110159, MONDO:Lexical, OMIM:600882, Orphanet:99936]
synonym: "hereditary motor and sensory neuropathy 2 B (HMSN 2 B)" RELATED [GARD:0009192]
synonym: "hereditary motor and sensory neuropathy 2B" RELATED [OMIM:600882]
synonym: "hereditary motor and sensory nueropathy IIB" EXACT [DOID:0110159]
synonym: "HMSN IIB" EXACT [DOID:0110159]
synonym: "HMSN2B" EXACT ABBREVIATION [DOID:0110159, OMIM:600882]
synonym: "peripheral sensory neuropathy, autosomal dominant (PSN)" RELATED [GARD:0009192]
synonym: "RAB7A Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110159 {source="MONDO:equivalentTo"}
xref: GARD:9192 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110159", source="Orphanet:99936", source="Orphanet:99936/attributed", source="Orphanet:99936/ntbt"}
xref: MEDGEN:371512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537989 {source="MONDO:equivalentTo"}
xref: OMIM:600882 {source="DOID:0110159", source="MONDO:equivalentTo", source="Orphanet:99936", source="Orphanet:99936/e"}
xref: Orphanet:99936 {source="DOID:0110159", source="OMIM:600882", source="MONDO:equivalentTo"}
xref: SCTID:717008005 {source="MONDO:equivalentTo"}
xref: UMLS:C1833219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371512"}
is_a: MONDO:0015626 {source="DOID:0110159/inferred", source="MESH:C537989", source="MONDO:Redundant", source="OMIM:600882", source="Orphanet:99936/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110159", source="MONDO:Redundant", source="Orphanet:99936"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9788 ! RAB7A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9788 {source="MONDO:mim2gene_medgen"} ! RAB7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b" xsd:anyURI {source="GARD:0009192"}

[Term]
id: MONDO:0010950
name: type 1 diabetes mellitus 8
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27." [DOID:0110747, MONDO:patterns/inherited_susceptibility, PMID:7573053]
synonym: "diabetes mellitus, insulin-dependent, 8" RELATED [MONDO:Lexical, OMIM:600883]
synonym: "IDDM8" EXACT ABBREVIATION [DOID:0110747, MONDO:Lexical, OMIM:600883]
synonym: "insulin-dependent diabetes mellitus 8" EXACT [DOID:0110747, OMIM:600883]
xref: DOID:0110747 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110747"}
xref: MEDGEN:331462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563433 {source="MONDO:equivalentTo"}
xref: OMIM:600883 {source="DOID:0110747", source="MONDO:equivalentTo"}
xref: UMLS:C1833218 {source="MEDGEN:331462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:600883"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:600883", source="DOID:0110747", source="MESH:C563433", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:600883"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0010951
name: dilated cardiomyopathy 1B
def: "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13." [DOID:0110443, PMID:7573045]
subset: gard_rare {source="GARD:15323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated 1B" EXACT [OMIM:600884, OMIM:genemap2]
synonym: "cardiomyopathy, dilated, 1B" RELATED [MONDO:Lexical, OMIM:600884]
synonym: "cardiomyopathy, familial dilated" RELATED [OMIM:600884]
synonym: "cardiomyopathy, familial dilated, 1" RELATED [OMIM:600884]
synonym: "CMD1B" RELATED EXCLUDE [DOID:0110443, MONDO:Lexical, OMIM:600884]
synonym: "dilated cardiomyopathy type 1B" EXACT [DOID:0110443, MONDORULE:4]
xref: DOID:0110443 {source="MONDO:equivalentTo"}
xref: GARD:15323 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110443"}
xref: MEDGEN:1814491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600884 {source="MONDO:equivalentTo", source="DOID:0110443"}
xref: UMLS:C5700078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814491"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:600884"} ! familial dilated cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010952
name: hereditary hyperferritinemia with congenital cataracts
def: "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." [Orphanet:163]
subset: gard_rare {source="GARD:2806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1264"}
subset: ordo_disorder {source="Orphanet:163"}
subset: orphanet_rare {source="Orphanet:163"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bonneau-Beaumont syndrome" EXACT [Orphanet:163]
synonym: "cataract-hyperferritinemia syndrome" RELATED [GARD:0002806]
synonym: "hereditary hyperferritinemia cataract syndrome" RELATED [GARD:0002806]
synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT [Orphanet:163]
synonym: "HHCS" EXACT ABBREVIATION [Orphanet:163]
synonym: "HRFTC" RELATED ABBREVIATION [OMIM:600886]
synonym: "Hyperferritinemia Cataract Syndrome" EXACT [NORD:1264]
synonym: "hyperferritinemia cataract syndrome" RELATED [GARD:0002806]
synonym: "hyperferritinemia with or without cataract" RELATED [OMIM:600886]
synonym: "hyperferritinemia, hereditary, with congenital cataracts" RELATED [OMIM:600886]
synonym: "hyperferritinemia-cataract syndrome" RELATED [OMIM:600886]
xref: DOID:0111256 {source="MONDO:equivalentTo"}
xref: GARD:2806 {source="MONDO:GARD"}
xref: ICD10CM:H26.0 {source="Orphanet:163/attributed", source="Orphanet:163/ntbt", source="Orphanet:163"}
xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:366.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:318812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538137 {source="Orphanet:163/e", source="MONDO:equivalentTo", source="Orphanet:163"}
xref: NORD:1264 {source="MONDO:NORD"}
xref: OMIM:600886 {source="Orphanet:163/e", source="MONDO:equivalentTo", source="Orphanet:163"}
xref: Orphanet:163 {source="MONDO:equivalentTo", source="OMIM:600886"}
xref: SCTID:702398007 {source="MONDO:equivalentTo"}
xref: UMLS:C1833213 {source="MEDGEN:318812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3999 {source="MONDO:mim2gene_medgen"} ! FTL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0010953
name: Fanconi anemia complementation group E
def: "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2." [NCIT:C125709]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "face" EXACT [DOID:0111084, OMIM:600901]
synonym: "FANCE" EXACT ABBREVIATION [DOID:0111084, MONDO:Lexical, OMIM:600901]
synonym: "FANCE Fanconi anaemia" EXACT OMO:0003005 []
synonym: "FANCE Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anaemia caused by mutation in FANCE" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type E" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in FANCE" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group E" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type E" EXACT [DOID:0111084, MONDORULE:1]
synonym: "Fanconi anemia, complementation group E" RELATED [MONDO:Lexical, OMIM:600901]
synonym: "Fanconi Anemia, complementation group type E" EXACT [MONDORULE:1, OMIM:600901]
xref: DOID:0111084 {source="MONDO:equivalentTo"}
xref: GARD:15324 {source="MONDO:GARD"}
xref: MEDGEN:463628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125709 {source="MONDO:equivalentTo"}
xref: OMIM:600901 {source="MONDO:equivalentTo", source="DOID:0111084"}
xref: UMLS:C3160739 {source="MEDGEN:463628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:600901", source="DOID:0111084", source="MONDO:Redundant", source="NCIT:C125709", source="OMIM:600901"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3586 ! FANCE
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3586 {source="MONDO:mim2gene_medgen"} ! FANCE

[Term]
id: MONDO:0010954
name: Wiskott-Aldrich syndrome, autosomal dominant form
subset: gard_rare {source="GARD:15325", source="MONDO:GARD"}
subset: rare
synonym: "Wiskott-Aldrich syndrome, autosomal dominant form" EXACT [OMIM:600903]
xref: GARD:15325 {source="MONDO:GARD"}
xref: MEDGEN:1783558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563431 {source="MONDO:equivalentTo"}
xref: OMIM:600903 {source="MONDO:equivalentTo"}
xref: Orphanet:906 {source="OMIM:600903"}
xref: UMLS:C5542398 {source="MEDGEN:1783558", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="MESH:C563431", source="Orphanet:906/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease

[Term]
id: MONDO:0010955
name: ectodermal dysplasia with intellectual disability and syndactyly
synonym: "ectodermal dysplasia intellectual disability syndactyly" RELATED [GARD:0002052]
synonym: "ectodermal dysplasia mental retardation syndactyly" RELATED DEPRECATED [GARD:0002052]
synonym: "ectodermal dysplasia with intellectual disability and syndactyly" EXACT [OMIM:600906]
synonym: "ectodermal dysplasia with mental retardation and syndactyly" EXACT DEPRECATED [OMIM:600906]
xref: MEDGEN:322135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538018 {source="MONDO:equivalentTo"}
xref: OMIM:600906 {source="MONDO:equivalentTo"}
xref: UMLS:C1833169 {source="MEDGEN:322135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C538018/inferred"} ! hereditary disease

[Term]
id: MONDO:0010956
name: enamel hypoplasia, cataracts, and aqueductal stenosis
synonym: "enamel hypoplasia, capsular cataracts, and ductal stenosis" RELATED [GARD:0004801]
synonym: "enamel hypoplasia, cataracts, and aqueductal stenosis" EXACT [OMIM:600907]
synonym: "Seow Najjar syndrome" RELATED [GARD:0004801]
xref: MEDGEN:371497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563430 {source="MONDO:equivalentTo"}
xref: OMIM:600907 {source="MONDO:equivalentTo"}
xref: UMLS:C1833163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371497"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010957
name: obsolete agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5902" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0032738

[Term]
id: MONDO:0010958
name: cardiac arrhythmia, ankyrin-B-related
comment: Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent
subset: gard_rare {source="GARD:10432", source="MONDO:GARD"}
subset: rare
synonym: "ankyrin-B syndrome" EXACT [OMIM:600919]
synonym: "cardiac arrhythmia, ankyrin-b-related" EXACT [OMIM:600919]
synonym: "LQT4" RELATED ABBREVIATION [GARD:0010432, OMIM:600919]
xref: DOID:0111700 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0111701 {source="MONDO:equivalentTo"}
xref: GARD:10432 {source="MONDO:GARD"}
xref: MEDGEN:370181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600919 {source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="OMIM:600919", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:600919"}
xref: SCTID:764457005 {source="MONDO:equivalentTo"}
xref: UMLS:C1970119 {source="MEDGEN:370181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002442 {source="MONDO:Redundant", source="OMIM:600919"} ! long QT syndrome
is_a: MONDO:0019171 {source="OMIM:600919", source="Orphanet:101016-prototype"} ! familial long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/493 {source="MONDO:mim2gene_medgen"} ! ANK2

[Term]
id: MONDO:0010959
name: van den Ende-Gupta syndrome
def: "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." [Orphanet:2460]
subset: gard_rare {source="GARD:3382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2460"}
subset: ordo_malformation_syndrome {source="Orphanet:2460"}
subset: orphanet_rare {source="Orphanet:2460"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis, arachnodactyly, and congenital contractures" RELATED [OMIM:600920]
synonym: "Marden Walker like syndrome" RELATED [GARD:0003382]
synonym: "Marden Walker like syndrome without psychomotor retardation" RELATED [GARD:0003382]
synonym: "Marden-Walker-like syndrome" EXACT [Orphanet:2460]
synonym: "Marden-Walker-like syndrome without psychomotor retardation" RELATED [OMIM:600920]
synonym: "Van den Ende Gupta syndrome" RELATED [GARD:0003382]
synonym: "VAN DEN Ende-Gupta syndrome" RELATED [OMIM:600920]
synonym: "van den Ende-Gupta syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600920]
synonym: "VDEGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600920, Orphanet:2460]
xref: DOID:0111699 {source="MONDO:equivalentTo"}
xref: GARD:3382 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2460/attributed", source="Orphanet:2460/ntbt", source="Orphanet:2460"}
xref: MEDGEN:322127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535909 {source="MONDO:equivalentTo"}
xref: OMIM:600920 {source="Orphanet:2460/e", source="MONDO:equivalentTo", source="Orphanet:2460"}
xref: Orphanet:2460 {source="MONDO:equivalentTo", source="OMIM:600920"}
xref: SCTID:719845008 {source="MONDO:equivalentTo"}
xref: UMLS:C1833136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322127"}
is_a: MONDO:0015161 {source="Orphanet:2460"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015168 {source="Orphanet:2460"} ! arthrogryposis multiplex congenita
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:2460", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19869 {source="MONDO:mim2gene_medgen"} ! SCARF2

[Term]
id: MONDO:0010960
name: protocadherin 3
synonym: "Pcdh3" RELATED [OMIM:600931]
synonym: "protocadherin 3" EXACT [OMIM:600931]
synonym: "protocadherin type 3" EXACT [MONDORULE:1, OMIM:600931]
xref: MEDGEN:371487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600931 {source="MONDO:equivalentTo"}
xref: UMLS:C1833117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371487"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010961
name: obesity due to prohormone convertase I deficiency
def: "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." [Orphanet:71528]
subset: gard_rare {source="GARD:16689", source="MONDO:GARD"}
subset: nord_rare {source="NORD:109523", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:71528"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "obesity and endocrinopathy due to impaired processing of prohormones" RELATED [OMIM:600955]
synonym: "obesity with impaired prohormone processing" EXACT [OMIM:600955, OMIM:genemap2]
synonym: "PCI deficiency" EXACT [Orphanet:71528]
synonym: "PCSK1 Deficiency" EXACT [NORD:109523]
synonym: "proprotein convertase 1/3 deficiency" RELATED [OMIM:600955]
xref: DOID:0111698 {source="MONDO:equivalentTo"}
xref: GARD:16689 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:71528/attributed", source="Orphanet:71528/ntbt", source="Orphanet:71528"}
xref: MEDGEN:318777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563423 {source="MONDO:equivalentTo"}
xref: NORD:109523 {source="MONDO:NORD"}
xref: OMIM:600955 {source="Orphanet:71528/e", source="MONDO:equivalentTo", source="Orphanet:71528"}
xref: Orphanet:71528 {source="MONDO:equivalentTo", source="OMIM:600955"}
xref: SCTID:722053001 {source="MONDO:equivalentTo"}
xref: UMLS:C1833053 {source="MEDGEN:318777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder
is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8743 {source="MONDO:mim2gene_medgen"} ! PCSK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010962
name: diffuse nonepidermolytic palmoplantar keratoderma
def: "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis." [Orphanet:530838]
subset: gard_rare {source="GARD:5186", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:530838"}
subset: ordo_inheritance_inconsistent
subset: orphanet_rare {source="Orphanet:530838"}
subset: rare
synonym: "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" NARROW [Orphanet:2337]
synonym: "diffuse NEPPK" RELATED [GARD:0005186]
synonym: "diffuse nonepidermolytic palmoplantar keratoderma" EXACT [DOID:0050428, GARD:0005186]
synonym: "diffuse palmoplantar keratoderma, Bothnian type" EXACT [Orphanet:2337]
synonym: "keratoderma, nonepidermolytic palmoplantar" RELATED [OMIM:600962]
synonym: "KRT1-related diffuse nonepidermolytic keratoderma" EXACT [Orphanet:530838]
synonym: "NEPPK" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600962, Orphanet:2337]
synonym: "non-epidermolytic palmoplantar keratoderma" EXACT [Orphanet:2337]
synonym: "nonepidermolytic palmoplantar keratoderma" EXACT [MONDO:0006588, OMIM:600962]
synonym: "palmoplantar keratoderma, nonepidermolytic" EXACT [MONDO:Lexical, OMIM:600962]
synonym: "PPK diffusa circumscripta" RELATED [GARD:0005186]
synonym: "PPKNE" RELATED ABBREVIATION [OMIM:600962]
synonym: "Thost-Unna disease" RELATED [GARD:0005186, PMID:7531539]
synonym: "Thost-Unna palmoplantar keratoderma" RELATED [GARD:0005186, PMID:7531539]
synonym: "Thost-Unna syndrome" RELATED DEPRECATED [DOID:0050428, PMID:7531539]
synonym: "tylosis" RELATED [DOID:0050428, OMIM:600962]
synonym: "Unna-Thost palmoplantar keratoderma" RELATED [GARD:0005186, PMID:7531539]
synonym: "Unna-Thost syndrome" RELATED DEPRECATED [DOID:0050428, PMID:7531539]
xref: DOID:0050428 {source="MONDO:equivalentTo", source="EFO:1000743"}
xref: GARD:5186 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2337", source="Orphanet:2337/attributed", source="Orphanet:2337/ntbt"}
xref: MEDGEN:371463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015776 {source="DOID:0050428"}
xref: NCIT:C3147 {source="DOID:0050428"}
xref: OMIM:600962 {source="MONDO:equivalentTo", source="DOID:0050428", source="Orphanet:530838"}
xref: Orphanet:2337 {source="DOID:0050428"}
xref: Orphanet:496 {source="MONDO:equivalentObsolete", source="OMIM:600962"}
xref: Orphanet:530838 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:205584004 {source="DOID:0050428"}
xref: SCTID:28596004 {source="DOID:0050428"}
xref: SCTID:400123002 {source="DOID:0050428"}
xref: SCTID:716105001 {source="MONDO:equivalentTo"}
xref: SCTID:81206005 {source="DOID:0050428"}
xref: UMLS:C1833030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371463"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma
relationship: has_characteristic HP:0000006 {source="Orphanet:530838"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 {source="MONDO:mim2gene_medgen", source="Orphanet:530838"} ! KRT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4095" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0010963
name: autosomal dominant nonsyndromic hearing loss 6
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18101", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 14" NARROW [DOID:0110584]
synonym: "autosomal dominant deafness 38" NARROW [DOID:0110584]
synonym: "autosomal dominant deafness 6" NARROW [DOID:0110584]
synonym: "autosomal dominant nonsyndromic deafness 6" NARROW [OMIM:600965]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in WFS1" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 6" NARROW [DOID:0110584, MONDORULE:1]
synonym: "deafness, autosomal dominant 14" NARROW [OMIM:600965]
synonym: "deafness, autosomal dominant 38" NARROW [OMIM:600965]
synonym: "deafness, autosomal dominant 6" NARROW [MONDO:Lexical, OMIM:600965]
synonym: "deafness, autosomal dominant 6/14/38" NARROW [OMIM:600965, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 6" NARROW [MONDORULE:1, OMIM:600965]
synonym: "DFNA14" NARROW ABBREVIATION [DOID:0110584]
synonym: "DFNA38" NARROW ABBREVIATION [DOID:0110584]
synonym: "DFNA6" NARROW ABBREVIATION [DOID:0110584, MONDO:Lexical, OMIM:600965]
synonym: "WFS1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110584 {source="MONDO:equivalentTo"}
xref: GARD:18101 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110584"}
xref: MEDGEN:331419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563421 {source="MONDO:equivalentTo"}
xref: OMIM:600965 {source="MONDO:equivalentTo", source="DOID:0110584"}
xref: Orphanet:90635 {source="OMIM:600965"}
xref: UMLS:C1833021 {source="MEDGEN:331419", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:600965", source="DOID:0110584", source="MONDO:Redundant", source="OMIM:600965"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 ! WFS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 {source="MONDO:mim2gene_medgen"} ! WFS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010964
name: epiphyseal dysplasia, multiple, 3
def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COL9A3 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EDM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600969]
synonym: "epiphyseal dysplasia multiple 3" RELATED [GARD:0009792]
synonym: "epiphyseal dysplasia, multiple, 3" EXACT [MONDO:Lexical, OMIM:600969]
synonym: "epiphyseal dysplasia, multiple, 3, with myopathy" RELATED [OMIM:600969]
synonym: "epiphyseal dysplasia, multiple, 3, with or without myopathy" EXACT [OMIM:600969, OMIM:genemap2]
synonym: "epiphyseal dysplasia, multiple, type 3" EXACT [MONDORULE:1, OMIM:600969]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3" EXACT []
synonym: "multiple epiphyseal dysplasia 3" RELATED [GARD:0009792]
xref: DOID:0070304 {source="MONDO:equivalentTo"}
xref: GARD:9792 {source="MONDO:GARD"}
xref: MEDGEN:322091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535503 {source="MONDO:equivalentTo"}
xref: OMIM:600969 {source="MONDO:equivalentTo"}
xref: Orphanet:166002 {source="OMIM:600969"}
xref: UMLS:C1832998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322091"}
is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly
is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:600969"} ! multiple epiphyseal dysplasia
intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2219 ! COL9A3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2219 {source="MONDO:mim2gene_medgen"} ! COL9A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9792/multiple-epiphyseal-dysplasia-3" xsd:anyURI {source="GARD:0009792"}

[Term]
id: MONDO:0010965
name: autosomal recessive nonsyndromic hearing loss 6
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 6" NARROW [DOID:0110512]
synonym: "autosomal recessive nonsyndromic deafness 6" NARROW [OMIM:600971]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMIE" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 6" NARROW [DOID:0110512, MONDORULE:1]
synonym: "autosomal recessive nonsyndromic hearing loss 6" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 6" NARROW [MONDO:Lexical, OMIM:600971, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 6" NARROW [MONDORULE:1, OMIM:600971]
synonym: "DFNB6" NARROW ABBREVIATION [DOID:0110512, MONDO:Lexical, OMIM:600971]
synonym: "neurosensory nonsyndromic recessive deafness 6" NARROW [OMIM:600971]
synonym: "TMIE autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110512 {source="MONDO:equivalentTo"}
xref: GARD:22586 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110512"}
xref: MEDGEN:322088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563418 {source="MONDO:equivalentTo"}
xref: OMIM:600971 {source="DOID:0110512", source="MONDO:equivalentTo"}
xref: UMLS:C1832992 {source="MEDGEN:322088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:600971", source="DOID:0110512", source="MONDO:Redundant", source="OMIM:600971"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30800 ! TMIE
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30800 {source="MONDO:mim2gene_medgen"} ! TMIE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010966
name: achondrogenesis type IB
def: "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." [Orphanet:93298]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:460", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93298"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACG1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600972]
synonym: "achondrogenesis Fraccaro type" EXACT [DOID:0080055]
synonym: "achondrogenesis Ib" EXACT [OMIM:600972, OMIM:genemap2]
synonym: "achondrogenesis type 1B" RELATED [Orphanet:93298]
synonym: "achondrogenesis type IB" EXACT CLINGEN_LABEL []
synonym: "achondrogenesis, Fraccaro type" RELATED [OMIM:600972]
synonym: "achondrogenesis, Parenti-Fraccaro type" EXACT [Orphanet:93298]
synonym: "achondrogenesis, type 1B" RELATED [OMIM:600972]
synonym: "achondrogenesis, type IB" RELATED [MONDO:Lexical, OMIM:600972]
synonym: "Fraccaro achondrogenesis" RELATED [GARD:0000460]
xref: DOID:0080055 {source="MONDO:equivalentTo"}
xref: GARD:460 {source="MONDO:GARD"}
xref: ICD10CM:Q77.0 {source="Orphanet:93298", source="Orphanet:93298/attributed", source="Orphanet:93298/ntbt"}
xref: MEDGEN:78547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536016 {source="Orphanet:93298", source="Orphanet:93298/e"}
xref: OMIM:600972 {source="DOID:0080055", source="Orphanet:93298", source="MONDO:equivalentTo", source="Orphanet:93298/e"}
xref: Orphanet:932 {source="OMIM:600972"}
xref: Orphanet:93298 {source="OMIM:600972", source="MONDO:equivalentTo"}
xref: UMLS:C0265274 {source="MEDGEN:78547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease
is_a: MONDO:0019648 {source="DC-OMIM:600972", source="DOID:0080055", source="OMIM:600972", source="Orphanet:93298"} ! achondrogenesis
relationship: disease_has_feature HP:0000023 ! Inguinal hernia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6755" xsd:anyURI

[Term]
id: MONDO:0010967
name: autosomal recessive nonsyndromic hearing loss 7
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive deafness 7" NARROW [DOID:0110520]
synonym: "autosomal recessive nonsyndromic deafness 7" NARROW [OMIM:600974]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 7" NARROW [DOID:0110520, MONDORULE:1]
synonym: "autosomal recessive nonsyndromic hearing loss 7" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 11" NARROW [OMIM:600974]
synonym: "deafness, autosomal recessive 7" NARROW [MONDO:Lexical, OMIM:600974, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 7" NARROW [MONDORULE:1, OMIM:600974]
synonym: "DFNB11" NARROW ABBREVIATION [DOID:0110520]
synonym: "DFNB7" NARROW ABBREVIATION [DOID:0110520, MONDO:Lexical, OMIM:600974]
synonym: "TMC1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110520 {source="MONDO:equivalentTo"}
xref: GARD:22587 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110520"}
xref: MEDGEN:322084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563417 {source="MONDO:equivalentTo"}
xref: OMIM:600974 {source="MONDO:equivalentTo", source="DOID:0110520"}
xref: UMLS:C1832978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322084"}
is_a: MONDO:0019588 {source="DC-OMIM:600974", source="DOID:0110520", source="MONDO:Redundant", source="OMIM:600974"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16513 ! TMC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16513 {source="MONDO:mim2gene_medgen"} ! TMC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010968
name: glaucoma 3, primary infantile, B
subset: gard_rare {source="GARD:2490", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 3 primary infantile B" RELATED [GARD:0002490]
synonym: "glaucoma 3, primary infantile, B" EXACT [MONDO:Lexical, OMIM:600975]
synonym: "glaucoma primary congenita type 3B" RELATED [GARD:0002490]
synonym: "glaucoma, primary congenital, type B" RELATED [OMIM:600975]
synonym: "GLC3 type B" RELATED [GARD:0002490]
synonym: "Glc3, type B" RELATED [OMIM:600975]
synonym: "GLC3B" EXACT ABBREVIATION [GARD:0002490, MONDO:Lexical, OMIM:600975]
synonym: "primary congenital glaucoma" RELATED [GARD:0002490]
synonym: "primary congenital glaucoma type 3B" RELATED [GARD:0002490]
xref: GARD:2490 {source="MONDO:GARD"}
xref: MEDGEN:331409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536824 {source="MONDO:equivalentTo"}
xref: OMIM:600975 {source="MONDO:equivalentTo", source="GARD:0002490"}
xref: Orphanet:156005 {source="GARD:0002490"}
xref: Orphanet:98976 {source="OMIM:600975"}
xref: UMLS:C1832977 {source="MEDGEN:331409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020366 {source="Orphanet:98976/btnt"} ! congenital glaucoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b" xsd:anyURI {source="GARD:0002490"}

[Term]
id: MONDO:0010969
name: cone-rod dystrophy 5
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 5" EXACT [MONDO:Lexical, OMIM:600977]
synonym: "cone-rod dystrophy caused by mutation in PITPNM3" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 5" EXACT [DOID:0111010, MONDORULE:1, OMIM:600977]
synonym: "CORD5" EXACT ABBREVIATION [DOID:0111010, MONDO:Lexical, OMIM:600977]
synonym: "PITPNM3 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111010 {source="MONDO:equivalentTo"}
xref: GARD:10655 {source="MONDO:GARD"}
xref: MEDGEN:322083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563415 {source="MONDO:equivalentTo"}
xref: OMIM:600977 {source="MONDO:equivalentTo", source="DOID:0111010"}
xref: UMLS:C1832976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322083"}
is_a: MONDO:0015993 {source="DC-OMIM:600977", source="DOID:0111010", source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21043 ! PITPNM3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21043 {source="MONDO:mim2gene_medgen"} ! PITPNM3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5" xsd:anyURI {source="GARD:0010655"}

[Term]
id: MONDO:0010970
name: cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
synonym: "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" EXACT CLINGEN_LABEL [OMIM:600987]
synonym: "cleft palate, CARDIAC defects, and intellectual disability" RELATED [OMIM:600987]
synonym: "cleft palate, Cardiac defects, and intellectual disability" RELATED [OMIM:600987]
synonym: "cleft palate, CARDIAC defects, and mental retardation" RELATED DEPRECATED [OMIM:600987]
synonym: "cleft palate, Cardiac defects, and mental retardation" RELATED DEPRECATED [OMIM:600987]
synonym: "CPCMR" RELATED DEPRECATED [OMIM:600987]
xref: DOID:0111697 {source="MONDO:equivalentTo"}
xref: MEDGEN:318752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563414 {source="MONDO:equivalentTo"}
xref: OMIM:600987 {source="MONDO:equivalentTo"}
xref: UMLS:C1832950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318752"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7001 {source="MONDO:mim2gene_medgen"} ! MEIS2

[Term]
id: MONDO:0010971
name: infundibulopelvic stenosis-multicystic kidney syndrome
def: "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging." [Orphanet:1849]
subset: ordo_malformation_syndrome {source="Orphanet:1849"}
subset: otar {source="MONDO:OTAR"}
synonym: "infundibulopelvic dysgenesis" RELATED [OMIM:600989]
xref: MEDGEN:318751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535528 {source="MONDO:equivalentTo"}
xref: OMIM:600989 {source="Orphanet:1849/e", source="MONDO:equivalentTo", source="Orphanet:1849"}
xref: Orphanet:1849 {source="MONDO:equivalentObsolete", source="OMIM:600989"}
xref: SCTID:725905005 {source="MONDO:equivalentTo"}
xref: UMLS:C1832949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318751"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0010972
name: hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
def: "This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." [Orphanet:2180]
subset: gard_rare {source="GARD:5518", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2180"}
subset: ordo_malformation_syndrome {source="Orphanet:2180"}
subset: orphanet_rare {source="Orphanet:2180"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ferlini-Ragno-Calzolari syndrome" EXACT [Orphanet:2180]
synonym: "hydrocephalus, costovertebral dysplasia, and Sprengel anomaly" RELATED [GARD:0005518]
synonym: "hydrocephalus, skeletal anomalies, and mental disturbance" RELATED [GARD:0005518]
synonym: "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia" RELATED [OMIM:600991]
synonym: "Waaler-Aarskog syndrome" EXACT [Orphanet:2180]
xref: GARD:5518 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2180", source="Orphanet:2180/attributed", source="Orphanet:2180/ntbt"}
xref: MEDGEN:764174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536461 {source="MONDO:equivalentTo"}
xref: OMIM:600991 {source="MONDO:equivalentTo", source="Orphanet:2180", source="Orphanet:2180/e"}
xref: Orphanet:2180 {source="OMIM:600991", source="MONDO:equivalentTo"}
xref: SCTID:721229003 {source="MONDO:equivalentTo"}
xref: UMLS:C3551260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764174"}
is_a: MONDO:0015160 {source="Orphanet:2180"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:2180", source="Orphanet:2180/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0010973
name: autosomal dominant nonsyndromic hearing loss 5
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 5" NARROW [DOID:0110575]
synonym: "autosomal dominant nonsyndromic deafness 5" NARROW [OMIM:600994]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GSDME" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 5" NARROW [DOID:0110575, MONDORULE:1]
synonym: "deafness, autosomal dominant 5" NARROW [MONDO:Lexical, OMIM:600994, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 5" NARROW [MONDORULE:1, OMIM:600994]
synonym: "DFNA5" NARROW ABBREVIATION [DOID:0110575, MONDO:Lexical, OMIM:600994]
synonym: "GSDME autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110575 {source="MONDO:equivalentTo"}
xref: GARD:18102 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110575"}
xref: MEDGEN:331398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563410 {source="MONDO:equivalentTo"}
xref: OMIM:600994 {source="MONDO:equivalentTo", source="DOID:0110575"}
xref: UMLS:C1832932 {source="MONDO:equivalentTo", source="MEDGEN:331398", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:600994", source="DOID:0110575", source="MONDO:Redundant", source="OMIM:600994"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2810 ! GSDME
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2810 {source="MONDO:mim2gene_medgen"} ! GSDME
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010974
name: nephrotic syndrome, type 2
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15326", source="MONDO:GARD"}
subset: rare
synonym: "nephrotic syndrome caused by mutation in NPHS2" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, idiopathic, steroid-resistant" RELATED [GARD:0003946]
synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" RELATED [OMIM:600995]
synonym: "nephrotic syndrome, type 2" EXACT [MONDO:Lexical, OMIM:600995]
synonym: "NPHS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600995]
synonym: "NPHS2 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SRN1" RELATED ABBREVIATION [GARD:0003946]
xref: DOID:0080379 {source="MONDO:equivalentTo"}
xref: GARD:15326 {source="MONDO:GARD"}
xref: MEDGEN:358380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600995 {source="MONDO:equivalentTo"}
xref: UMLS:C1868672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358380"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:600995"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:600995"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13394 ! NPHS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13394 {source="MONDO:mim2gene_medgen"} ! NPHS2

[Term]
id: MONDO:0010975
name: obsolete arrhythmogenic right ventricular dysplasia 2
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6200" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011484

[Term]
id: MONDO:0010976
name: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
def: "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." [https://orcid.org/0000-0001-5208-3432, Orphanet:89838]
subset: gard_rare {source="GARD:16778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:89838"}
subset: orphanet_rare {source="Orphanet:89838"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS, autosomal recessive K14" EXACT [Orphanet:89838]
synonym: "EBS-AR KRT14" EXACT [Orphanet:89838]
synonym: "EBSB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601001]
synonym: "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" EXACT [OMIM:601001, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:601001]
synonym: "epidermolysis bullosa simplex, autosomal recessive K14" RELATED [Orphanet:89838]
synonym: "epidermolysis bullosa simplex, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:601001]
synonym: "KRT14-related autosomal recessive EBS" EXACT [Orphanet:89838]
synonym: "KRT14-related autosomal recessive epidermolysis bullosa simplex" EXACT [Orphanet:89838]
synonym: "KRT14-related epidermolysis bullosa simplex" EXACT [Orphanet:89838]
xref: GARD:16778 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:89838", source="Orphanet:89838/attributed", source="Orphanet:89838/ntbt"}
xref: MEDGEN:811576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563408 {source="MONDO:equivalentTo"}
xref: OMIM:601001 {source="MONDO:equivalentTo", source="Orphanet:89838", source="Orphanet:89838/e"}
xref: Orphanet:89838 {source="OMIM:601001", source="MONDO:equivalentTo"}
xref: UMLS:C3715082 {source="MEDGEN:811576", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010977
name: Brody myopathy
def: "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." [https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy]
subset: gard_rare {source="GARD:9158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53347"}
subset: orphanet_rare {source="Orphanet:53347"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brody disease" RELATED [GARD:0009158]
synonym: "Brody myopathy" EXACT CLINGEN_LABEL [OMIM:601003]
synonym: "sarcoplasmic reticulum -Ca2+ATPase deficiency" RELATED [GARD:0009158]
xref: DOID:0050692 {source="MONDO:equivalentTo"}
xref: GARD:9158 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:53347/attributed", source="Orphanet:53347/ntbt", source="Orphanet:53347"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:371441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536607 {source="Orphanet:53347", source="MONDO:equivalentTo", source="Orphanet:53347/e"}
xref: OMIM:601003 {source="Orphanet:53347", source="MONDO:equivalentTo", source="Orphanet:53347/e", source="DOID:0050692"}
xref: Orphanet:53347 {source="OMIM:601003", source="MONDO:equivalentTo"}
xref: SCTID:703530005 {source="MONDO:equivalentTo"}
xref: UMLS:C1832918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371441"}
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
is_a: MONDO:0016199 {source="Orphanet:53347", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of protein SERCA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/811 {source="MONDO:mim2gene_medgen"} ! ATP2A1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy" xsd:anyURI {source="GARD:0009158"}

[Term]
id: MONDO:0010978
name: portal vein, cavernous transformation of
synonym: "portal vein, cavernous transformation of" EXACT [OMIM:601004]
xref: MEDGEN:331396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563407 {source="MONDO:equivalentTo"}
xref: OMIM:601004 {source="MONDO:equivalentTo"}
xref: UMLS:C1832917 {source="MEDGEN:331396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010979
name: Timothy syndrome
def: "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders." [Orphanet:65283]
subset: gard_rare {source="GARD:9294", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1772"}
subset: ordo_disorder {source="Orphanet:65283"}
subset: orphanet_rare {source="Orphanet:65283"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "long QT syndrome 8" RELATED [OMIM:601005]
synonym: "long QT syndrome type 8" RELATED [Orphanet:65283]
synonym: "long QT syndrome with syndactyly" RELATED [OMIM:601005]
synonym: "long QT syndrome-syndactyly syndrome" EXACT [Orphanet:65283]
synonym: "LQT8" RELATED ABBREVIATION [Orphanet:65283]
synonym: "TIMOTHY syndrome" EXACT [OMIM:601005]
synonym: "Timothy syndrome" EXACT [MONDO:Lexical, OMIM:601005]
synonym: "TS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601005]
xref: DOID:0060173 {source="MONDO:equivalentTo"}
xref: GARD:9294 {source="MONDO:GARD"}
xref: ICD10CM:G72.3 {source="DOID:0060173"}
xref: ICD10CM:I45.8 {source="Orphanet:65283/attributed", source="Orphanet:65283/ntbt", source="Orphanet:65283"}
xref: MEDGEN:331395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536962 {source="Orphanet:65283/e", source="MONDO:equivalentTo", source="Orphanet:65283"}
xref: NCIT:C142894 {source="MONDO:equivalentTo"}
xref: NORD:1772 {source="MONDO:NORD"}
xref: OMIM:601005 {source="Orphanet:65283/e", source="MONDO:equivalentTo", source="Orphanet:65283", source="DOID:0060173"}
xref: Orphanet:65283 {source="OMIM:601005", source="MONDO:equivalentTo", source="DOID:0060173"}
xref: Orphanet:768 {source="OMIM:601005", source="DOID:0060173"}
xref: UMLS:C1832916 {source="MEDGEN:331395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0060173", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002442 {source="MESH:C536962", source="MONDO:Redundant", source="NCIT:C142894", source="OMIM:601005"} ! long QT syndrome
relationship: disease_has_feature HP:0001279 {source="MONDO:Wikidata"} ! Syncope
relationship: disease_has_feature HP:0001649 {source="MONDO:Wikidata"} ! Tachycardia
relationship: disease_has_feature HP:0001663 {source="MONDO:Wikidata"} ! Ventricular fibrillation
relationship: disease_has_feature MONDO:0000190 {source="MONDO:Wikidata"} ! ventricular fibrillation
relationship: disease_has_feature MONDO:0000992 {source="MONDO:Wikidata"} ! heart conduction disease
relationship: excluded_subClassOf MONDO:0019171 {source="MONDO:Redundant", source="OMIM:601005", source="Orphanet:65283", source="https://orcid.org/0000-0001-5208-3432"} ! familial long QT syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:601005", source="Orphanet:65283"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1390 {source="MONDO:mim2gene_medgen"} ! CACNA1C
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome" xsd:anyURI {source="GARD:0009294"}

[Term]
id: MONDO:0010980
name: midline malformations, multiple, with limb abnormalities and hypopituitarism
synonym: "Dincsoy syndrome" RELATED [OMIM:601016]
synonym: "Dincsoy-Salih-Patel syndrome" EXACT [Orphanet:1678]
synonym: "midline malformations, multiple, with limb abnormalities and hypopituitarism" EXACT [OMIM:601016]
xref: MEDGEN:371431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536177 {source="MONDO:equivalentTo"}
xref: OMIM:601016 {source="MONDO:equivalentTo"}
xref: Orphanet:1678 {source="MONDO:equivalentObsolete", source="OMIM:601016"}
xref: UMLS:C1832874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371431"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010981
name: absent tibia-polydactyly-arachnoid cyst syndrome
def: "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." [Orphanet:3328]
subset: gard_rare {source="GARD:5210", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3328"}
subset: ordo_malformation_syndrome {source="Orphanet:3328"}
subset: orphanet_rare {source="Orphanet:3328"}
subset: rare
synonym: "absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210]
synonym: "Holmes Collins syndrome" RELATED [GARD:0005210]
synonym: "Holmes-Collins syndrome" EXACT [Orphanet:3328]
synonym: "tibia absent polydactyly arachnoid cyst" RELATED [GARD:0005210]
synonym: "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies" RELATED [OMIM:601027]
synonym: "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210]
xref: GARD:5210 {source="MONDO:GARD"}
xref: MEDGEN:318725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536918 {source="Orphanet:3328", source="Orphanet:3328/e"}
xref: MESH:C563403 {source="MONDO:equivalentTo"}
xref: OMIM:601027 {source="MONDO:equivalentTo", source="Orphanet:3328", source="GARD:0005210", source="Orphanet:3328/e"}
xref: Orphanet:3328 {source="OMIM:601027", source="MONDO:equivalentTo", source="GARD:0005210"}
xref: SCTID:733068001 {source="MONDO:equivalentTo"}
xref: UMLS:C1832859 {source="MEDGEN:318725", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:3328"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst" xsd:anyURI {source="GARD:0005210"}

[Term]
id: MONDO:0010982
name: ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin
synonym: "ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin" EXACT [OMIM:601039]
synonym: "ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin" RELATED DEPRECATED [OMIM:601039]
xref: MEDGEN:318724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563402 {source="MONDO:equivalentTo"}
xref: OMIM:601039 {source="MONDO:equivalentTo"}
xref: UMLS:C1832858 {source="MEDGEN:318724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0010983
name: dystonia 9
def: "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." [DOID:0090044]
subset: gard_rare {source="GARD:16656", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53583"}
subset: orphanet_rare {source="Orphanet:53583"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choreoathetosis, kinesigenic, with episodic ataxia and spasticity" RELATED [OMIM:601042]
synonym: "choreoathetosis/spasticity, episodic" RELATED [OMIM:601042]
synonym: "Cse choreoathetosis, paroxysmal, with episodic ataxia" RELATED [OMIM:601042]
synonym: "dystonia 9" EXACT [MONDO:Lexical, OMIM:601042]
synonym: "dystonia type 9" EXACT [DOID:0090044, MONDORULE:1, OMIM:601042]
synonym: "DYT9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601042, Orphanet:53583]
synonym: "episodic choreoathetosis/spasticity" EXACT [Orphanet:53583]
synonym: "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" RELATED [Orphanet:53583]
xref: DOID:0090044 {source="MONDO:equivalentTo"}
xref: GARD:16656 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="DOID:0090044", source="Orphanet:53583/attributed", source="Orphanet:53583/ntbt", source="Orphanet:53583"}
xref: MEDGEN:371427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563401 {source="MONDO:equivalentTo"}
xref: NANDO:1200520 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:601042 {source="DOID:0090044", source="Orphanet:53583/e", source="MONDO:equivalentTo", source="Orphanet:53583"}
xref: Orphanet:53583 {source="DOID:0090044", source="MONDO:equivalentTo", source="OMIM:601042"}
xref: SCTID:715564000 {source="MONDO:equivalentTo"}
xref: UMLS:C1832855 {source="MEDGEN:371427", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016058 {source="Orphanet:53583"} ! paroxysmal dystonia
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0044807 {source="DOID:0090044", source="MONDO:Redundant", source="OMIM:601042"} ! inherited dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0010984
name: Usher syndrome type 1D
def: "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner." [OMIM:601067]
subset: gard_rare {source="GARD:5438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH1D" EXACT ABBREVIATION [DOID:0110831, MONDO:Lexical, OMIM:601067]
synonym: "Ush1D/F, Cdh23/Pcdh15, digenic" RELATED [OMIM:601067]
synonym: "Usher syndrome type 1D" EXACT []
synonym: "Usher syndrome type ID" EXACT [DOID:0110831]
synonym: "Usher syndrome, type 1D" RELATED [GARD:0005438]
synonym: "Usher syndrome, type 1D/F digenic" EXACT [OMIM:601067, OMIM:genemap2]
synonym: "USHER syndrome, type ID" RELATED [MONDO:Lexical, OMIM:601067]
synonym: "Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic" RELATED [OMIM:601067]
xref: DOID:0110831 {source="MONDO:equivalentTo"}
xref: GARD:5438 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110831", source="MONDO:relatedTo"}
xref: MEDGEN:322051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601067 {source="DOID:0110831", source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="OMIM:601067"}
xref: Orphanet:886 {source="OMIM:601067"}
xref: UMLS:C1832845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322051"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
is_a: MONDO:0019501 {source="DOID:0110831/inferred", source="MONDO:Redundant", source="OMIM:601067"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:601067"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5438/usher-syndrome-type-1d" xsd:anyURI {source="GARD:0005438"}

[Term]
id: MONDO:0010985
name: epilepsy, familial adult myoclonic, 1
subset: gard_rare {source="GARD:18082", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "benign adult familial myoclonic epilepsy 1" RELATED [OMIM:601068]
synonym: "cortical myoclonic tremor with epilepsy, familial, 1" RELATED [OMIM:601068]
synonym: "epilepsy, familial ADULT myoclonic, 1" RELATED [MONDO:Lexical, OMIM:601068]
synonym: "FAME1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601068]
xref: DOID:0111690 {source="MONDO:equivalentTo"}
xref: GARD:18082 {source="MONDO:GARD"}
xref: MEDGEN:371424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563399 {source="MONDO:equivalentTo"}
xref: OMIM:601068 {source="MONDO:equivalentTo"}
xref: Orphanet:86814 {source="OMIM:601068"}
xref: UMLS:C1832841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371424"}
is_a: MONDO:0000160 {source="DC-OMIM:601068", source="OMIM:601068"} ! epilepsy, familial adult myoclonic
relationship: excluded_subClassOf MONDO:0019448 {source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy

[Term]
id: MONDO:0010986
name: autosomal recessive nonsyndromic hearing loss 9
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "auditory neuropathy, autosomal recessive, 1" NARROW [OMIM:601071, OMIM:genemap2]
synonym: "auditory neuropathy, nonsyndromic recessive" NARROW [OMIM:601071]
synonym: "autosomal recessive deafness 9" NARROW [DOID:0110535]
synonym: "autosomal recessive nonsyndromic deafness 9" NARROW [OMIM:601071]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOF" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 9" NARROW [DOID:0110535, MONDORULE:1]
synonym: "autosomal recessive nonsyndromic hearing loss 9" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 9" NARROW [MONDO:Lexical, OMIM:601071, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 9" NARROW [MONDORULE:1, OMIM:601071]
synonym: "DFNB9" NARROW ABBREVIATION [DOID:0110535, MONDO:Lexical, OMIM:601071]
synonym: "neurosensory nonsyndromic recessive deafness 9" NARROW [DOID:0110535, OMIM:601071]
synonym: "NRSD9" NARROW ABBREVIATION [DOID:0110535]
synonym: "OTOF autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110535 {source="MONDO:equivalentTo"}
xref: GARD:22588 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110535"}
xref: MEDGEN:331376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601071 {source="DOID:0110535", source="MONDO:equivalentTo"}
xref: UMLS:C1832828 {source="MONDO:equivalentTo", source="MEDGEN:331376", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:601071", source="DOID:0110535", source="MONDO:Redundant", source="OMIM:601071"} ! hearing loss, autosomal recessive
is_a: MONDO:0021944 {source="OMIM:601071"} ! auditory neuropathy
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8515 ! OTOF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8515 {source="MONDO:mim2gene_medgen"} ! OTOF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010987
name: autosomal recessive nonsyndromic hearing loss 8
def: "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22." [DOID:0110527, PMID:11137999]
subset: gard_rare {source="GARD:22589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 10" NARROW [DOID:0110527]
synonym: "autosomal recessive deafness 8" NARROW [DOID:0110527]
synonym: "autosomal recessive nonsyndromic deafness 8" NARROW [OMIM:601072]
synonym: "autosomal recessive nonsyndromic deafness type 8" NARROW [DOID:0110527, MONDORULE:1]
synonym: "autosomal recessive nonsyndromic hearing loss 8" EXACT CLINGEN_LABEL []
synonym: "childhood-onset neurosensory autosomal recessive deafness 8" NARROW [DOID:0110527]
synonym: "deafness, autosomal recessive 10" NARROW [OMIM:601072]
synonym: "deafness, autosomal recessive 8" NARROW [MONDO:Lexical, OMIM:601072]
synonym: "deafness, autosomal recessive 8/10" NARROW [OMIM:601072, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 8" NARROW [MONDORULE:1, OMIM:601072]
synonym: "deafness, childhood-onset neurosensory, autosomal recessive 8" NARROW [OMIM:601072]
synonym: "DFNB10" NARROW ABBREVIATION [DOID:0110527]
synonym: "DFNB8" NARROW ABBREVIATION [DOID:0110527, MONDO:Lexical, OMIM:601072]
synonym: "neurosensory nonsyndromic recessive deafness 8" NARROW [DOID:0110527, OMIM:601072]
synonym: "NRSD8" NARROW ABBREVIATION [DOID:0110527]
xref: DOID:0110527 {source="MONDO:equivalentTo"}
xref: GARD:22589 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110527"}
xref: MEDGEN:322046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601072 {source="DOID:0110527", source="MONDO:equivalentTo"}
xref: UMLS:C1832827 {source="MEDGEN:322046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:601072", source="DOID:0110527", source="OMIM:601072"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0010988
name: aplasia cutis-myopia syndrome
def: "Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant." [Orphanet:1117]
subset: gard_rare {source="GARD:756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1117"}
subset: orphanet_rare {source="Orphanet:1117"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aplasia cutis congenita, high myopia, and cone-rod dysfunction" RELATED [OMIM:601075]
synonym: "aplasia cutis myopia" EXACT [MONDO:0021910]
synonym: "Gershoni-Baruch-Leibo syndrome" EXACT [Orphanet:1117]
xref: GARD:756 {source="MONDO:GARD"}
xref: ICD10CM:Q84.8 {source="Orphanet:1117", source="Orphanet:1117/attributed", source="Orphanet:1117/ntbt"}
xref: MEDGEN:331375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563394 {source="MONDO:equivalentTo"}
xref: OMIM:601075 {source="MONDO:equivalentTo", source="Orphanet:1117", source="Orphanet:1117/e"}
xref: Orphanet:1117 {source="MONDO:equivalentTo", source="OMIM:601075"}
xref: SCTID:720499004 {source="MONDO:equivalentTo"}
xref: UMLS:C1832826 {source="MEDGEN:331375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007145 {source="GARD:0000756", source="MONDO:0021910"} ! aplasia cutis congenita
is_a: MONDO:0019294 {source="Orphanet:1117"} ! mixed dermis disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia" xsd:anyURI {source="GARD:0000756"}

[Term]
id: MONDO:0010989
name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
def: "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." [Orphanet:2578]
subset: gard_rare {source="GARD:5513", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2578"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical MRKH syndrome" EXACT [Orphanet:2578]
synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" RELATED [OMIM:601076]
synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome, type 2" RELATED [OMIM:601076]
synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 2" EXACT [Orphanet:2578]
synonym: "MRKH syndrome type 2" EXACT [Orphanet:2578]
synonym: "MRKH, type 2" RELATED [OMIM:601076]
synonym: "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies" RELATED [MONDO:Lexical, OMIM:601076]
synonym: "Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578]
synonym: "MURCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601076]
synonym: "MURCS association" EXACT [Orphanet:2578]
synonym: "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578]
xref: DOID:0112179 {source="MONDO:equivalentTo"}
xref: GARD:5513 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2578", source="Orphanet:2578/attributed", source="Orphanet:2578/ntbt"}
xref: icd11.foundation:1521808255 {source="MONDO:equivalentTo", source="Orphanet:2578", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:931237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601076 {source="MONDO:equivalentTo", source="Orphanet:2578", source="Orphanet:2578/e"}
xref: Orphanet:2578 {source="MONDO:equivalentTo", source="OMIM:601076"}
xref: Orphanet:3109 {source="OMIM:601076"}
xref: SCTID:717705004 {source="MONDO:equivalentTo"}
xref: UMLS:C4305568 {source="MEDGEN:931237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017771 {source="Orphanet:2578"} ! Mayer-Rokitansky-Kuster-Hauser syndrome
relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome

[Term]
id: MONDO:0010990
name: obsolete Cd4/CD8 T-cell ratio
synonym: "Cd4/CD8 T-cell ratio" EXACT [OMIM:601083]
xref: NCIT:C74637
xref: OMIM:601083 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2941" xsd:anyURI
is_obsolete: true
consider: HP:0031394

[Term]
id: MONDO:0010991
name: laterality defects, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "laterality defects dominant" RELATED [GARD:0003198]
synonym: "laterality defects, autosomal dominant" EXACT [OMIM:601086]
xref: MEDGEN:322042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563391 {source="MONDO:equivalentTo"}
xref: OMIM:601086 {source="MONDO:equivalentTo"}
xref: Orphanet:450 {source="OMIM:601086"}
xref: UMLS:C1832813 {source="MEDGEN:322042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018677 {source="Orphanet:450/btnt"} ! visceral heterotaxy

[Term]
id: MONDO:0010992
name: Ayme-Gripp syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:477668"}
subset: rare
synonym: "AYGRP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601088]
synonym: "AYME-Gripp syndrome" RELATED [OMIM:601088]
synonym: "Ayme-Gripp syndrome" EXACT [MONDO:Lexical, OMIM:601088]
synonym: "Aymé-Gripp syndrome" RELATED [Orphanet:477668]
synonym: "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability" RELATED [OMIM:601088]
synonym: "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation" RELATED DEPRECATED [OMIM:601088]
xref: DOID:0111688 {source="MONDO:equivalentTo"}
xref: MEDGEN:371416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563390 {source="MONDO:equivalentTo"}
xref: OMIM:601088 {source="MONDO:equivalentTo", source="Orphanet:477668"}
xref: Orphanet:477668 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1832812 {source="MEDGEN:371416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:477668"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:477668", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6776 {source="MONDO:mim2gene_medgen"} ! MAF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010993
name: Harrod syndrome
def: "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." [Orphanet:2115]
subset: gard_rare {source="GARD:2601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2115"}
subset: ordo_malformation_syndrome {source="Orphanet:2115"}
subset: orphanet_rare {source="Orphanet:2115"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cranio-facio-digito-genital syndrome" EXACT [Orphanet:2115]
synonym: "craniofacial digital genital anomalies" RELATED [GARD:0002601]
synonym: "Harrod Doman Keele syndrome" RELATED [GARD:0002601]
synonym: "Harrod syndrome" EXACT [OMIM:601095]
xref: GARD:2601 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2115/attributed", source="Orphanet:2115/ntbt", source="Orphanet:2115"}
xref: MEDGEN:162895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535635 {source="MONDO:equivalentTo"}
xref: OMIM:601095 {source="Orphanet:2115", source="MONDO:equivalentTo", source="Orphanet:2115/e"}
xref: Orphanet:2115 {source="MONDO:equivalentTo", source="OMIM:601095"}
xref: SCTID:716089008 {source="MONDO:equivalentTo"}
xref: UMLS:C0795970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162895"}
is_a: MONDO:0015159 {source="Orphanet:2115"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2115", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0010994
name: obsolete micromelic dwarfism, Fryns type
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects" RELATED [OMIM:601096]
synonym: "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects" RELATED [GARD:0003642]
synonym: "SEMD, micromelic" RELATED [OMIM:601096]
synonym: "spondyloepimetaphyseal dysplasia micromelic" RELATED [GARD:0003642]
synonym: "spondyloepimetaphyseal dysplasia, micromelic" RELATED [OMIM:601096]
xref: ICD10CM:Q77.8 {source="Orphanet:2641", source="Orphanet:2641/attributed", source="Orphanet:2641/ntbt"}
xref: MESH:C537556 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="Orphanet:2641/e"}
xref: OMIM:601096 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="Orphanet:2641/e"}
xref: Orphanet:2641 {source="OMIM:601096", source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:715479009 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0010995
name: Charcot-Marie-Tooth disease type 1C
def: "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:1247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101083"}
subset: orphanet_rare {source="Orphanet:101083"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot Marie Tooth disease type 1C" RELATED [GARD:0001247]
synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" RELATED [GARD:0001247, MONDO:Lexical, OMIM:601098]
synonym: "Charcot-Marie-Tooth disease, type 1C" EXACT [OMIM:601098, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 1C" EXACT [DOID:0110151]
synonym: "Charcot-Marie-Tooth neuropathy, type 1C" RELATED [OMIM:601098]
synonym: "CMT 1C" RELATED [GARD:0001247]
synonym: "CMT slow nerve conduction type C" EXACT [DOID:0110151]
synonym: "CMT, slow nerve conduction type C" RELATED [OMIM:601098]
synonym: "CMT1C" EXACT ABBREVIATION [DOID:0110151, MONDO:Lexical, OMIM:601098, Orphanet:101083]
synonym: "HMSN 1C" RELATED [OMIM:601098]
synonym: "HMSN IC" EXACT [DOID:0110151]
synonym: "HMSN1C" EXACT ABBREVIATION [DOID:0110151]
synonym: "LITAF Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuropathy hereditary motor and sensory type 1C" EXACT [DOID:0110151]
synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [OMIM:601098]
xref: DOID:0110151 {source="MONDO:equivalentTo"}
xref: GARD:1247 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110151", source="Orphanet:101083", source="Orphanet:101083/attributed", source="Orphanet:101083/ntbt"}
xref: MEDGEN:75728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537984 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="Orphanet:101083"}
xref: OMIM:601098 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="DOID:0110151", source="Orphanet:101083"}
xref: Orphanet:101083 {source="MONDO:equivalentTo", source="DOID:0110151", source="OMIM:601098"}
xref: UMLS:C0270913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75728"}
is_a: MONDO:0015626 {source="DOID:0110151/inferred", source="MESH:C537984", source="MONDO:Redundant", source="OMIM:601098", source="Orphanet:101083/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019011 {source="DOID:0110151", source="MONDO:Redundant", source="Orphanet:101083"} ! Charcot-Marie-Tooth disease type 1
intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16841 ! LITAF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16841 {source="MONDO:mim2gene_medgen"} ! LITAF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c" xsd:anyURI {source="GARD:0001247"}

[Term]
id: MONDO:0010996
name: hereditary hemorrhagic telangiectasia type 3
subset: gard_rare {source="GARD:9902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HHT3" RELATED ABBREVIATION [GARD:0009902, MONDO:Lexical, OMIM:601101]
synonym: "ORW3" RELATED ABBREVIATION [GARD:0009902]
synonym: "Osler Weber Rendu syndrome type 3" RELATED [GARD:0009902]
synonym: "telangiectasia hereditary hemorrhagic type 3" RELATED [GARD:0009902]
synonym: "telangiectasia, hereditary hemorrhagic, type 3" RELATED [MONDO:Lexical, OMIM:601101]
xref: GARD:9902 {source="MONDO:GARD"}
xref: MEDGEN:371403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537140 {source="MONDO:equivalentTo"}
xref: OMIM:601101 {source="GARD:0009902", source="MONDO:equivalentTo"}
xref: Orphanet:774 {source="GARD:0009902", source="OMIM:601101"}
xref: UMLS:C1832774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371403"}
is_a: MONDO:0019180 {source="DC-OMIM:601101", source="MESH:C537140", source="OMIM:601101"} ! hereditary hemorrhagic telangiectasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9902/hereditary-hemorrhagic-telangiectasia-type-3" xsd:anyURI {source="GARD:0009902"}

[Term]
id: MONDO:0010997
name: supranuclear palsy, progressive, 1
def: "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." [Orphanet:240071]
subset: gard_rare {source="GARD:17182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:240071"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic progressive supranuclear palsy syndrome" EXACT [Orphanet:240071]
synonym: "classic PSP syndrome" EXACT [Orphanet:240071]
synonym: "PSNP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601104]
synonym: "PSP" EXACT ABBREVIATION [OMIM:601104]
synonym: "Richardson syndrome" EXACT [Orphanet:240071]
synonym: "Steele-Richardson-Olszewski disease" BROAD [Orphanet:240071]
synonym: "Steele-Richardson-Olszewski syndrome" BROAD [OMIM:601104]
synonym: "supranuclear palsy, progressive" EXACT [OMIM:601104, OMIM:genemap2]
synonym: "supranuclear palsy, progressive, 1" EXACT [MONDO:Lexical, OMIM:601104]
synonym: "supranuclear palsy, progressive, type 1" EXACT [MONDORULE:1, OMIM:601104]
xref: GARD:17182 {source="MONDO:GARD"}
xref: ICD10CM:G23.1 {source="Orphanet:240071/ntbt", source="Orphanet:240071/inclusion", source="Orphanet:240071"}
xref: MEDGEN:1640811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601104 {source="Orphanet:240071/e", source="MONDO:equivalentTo", source="Orphanet:240071"}
xref: Orphanet:240071 {source="OMIM:601104", source="MONDO:equivalentTo"}
xref: Orphanet:683 {source="OMIM:601104"}
xref: UMLS:C4551863 {source="MEDGEN:1640811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019037 {source="DC-OMIM:601104", source="Orphanet:240071"} ! progressive supranuclear palsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6893 {source="MONDO:mim2gene_medgen"} ! MAPT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0010998
name: ALG3-congenital disorder of glycosylation
def: "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)." [Orphanet:79321]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79321"}
subset: orphanet_rare {source="Orphanet:79321"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG3-CDG" EXACT ABBREVIATION [Orphanet:79321]
synonym: "ALG3-CDG (CDG-Id)" RELATED [GARD:0009827]
synonym: "ALG3-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "carbohydrate deficient glycoprotein syndrome type Id" EXACT [Orphanet:79321]
synonym: "carbohydrate-deficient glycoprotein syndrome type IV (formerly)" RELATED [GARD:0009827]
synonym: "carbohydrate-deficient glycoprotein syndrome, type IV" RELATED [OMIM:601110]
synonym: "carbohydrate-deficient glycoprotein syndrome, type IV, formerly" RELATED [OMIM:601110]
synonym: "CDG 1D" RELATED [GARD:0009827]
synonym: "CDG Id" RELATED [OMIM:601110]
synonym: "CDG syndrome type Id" EXACT [Orphanet:79321]
synonym: "CDG-Id" EXACT [Orphanet:79321]
synonym: "CDG1D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601110, Orphanet:79321]
synonym: "CDGId" EXACT [NCIT:C126870]
synonym: "CDGS, type IV" RELATED [OMIM:601110]
synonym: "CDGS, type IV, formerly" RELATED [OMIM:601110]
synonym: "CDGS4 (formerly)" RELATED [GARD:0009827]
synonym: "congenital disorder of glycosylation type 1d" EXACT [Orphanet:79321]
synonym: "congenital disorder of glycosylation type Id" EXACT [Orphanet:79321]
synonym: "congenital disorder of glycosylation, type Id" RELATED [MONDO:Lexical, OMIM:601110]
synonym: "mannosyltransferase 6 deficiency" EXACT [Orphanet:79321]
xref: DOID:0080556 {source="MONDO:equivalentTo"}
xref: GARD:9827 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79321/attributed", source="Orphanet:79321/ntbt", source="Orphanet:79321"}
xref: MEDGEN:322026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535742 {source="MONDO:equivalentTo"}
xref: NCIT:C126870 {source="MONDO:equivalentTo"}
xref: OMIM:601110 {source="Orphanet:79321/e", source="MONDO:equivalentTo", source="Orphanet:79321"}
xref: Orphanet:79321 {source="OMIM:601110", source="MONDO:equivalentTo"}
xref: SCTID:720976009 {source="MONDO:equivalentTo"}
xref: UMLS:C1832736 {source="MONDO:equivalentTo", source="MEDGEN:322026", source="MONDO:MEDGEN"}
is_a: MONDO:0005500 {source="DC-OMIM:601110"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535742", source="MONDO:0010998/inferred", source="MONDO:Redundant", source="NCIT:C126870", source="OMIM:601110", source="Orphanet:79321/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79321"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23056 {source="MONDO:mim2gene_medgen"} ! ALG3

[Term]
id: MONDO:0010999
name: fallot complex-intellectual disability-growth delay syndrome
def: "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." [Orphanet:3304]
subset: gard_rare {source="GARD:893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3304"}
subset: ordo_malformation_syndrome {source="Orphanet:3304"}
subset: orphanet_rare {source="Orphanet:3304"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bindewald Ulmer Muller syndrome" RELATED [GARD:0000893]
synonym: "Bindewald-Ulmer-Müller syndrome" EXACT [Orphanet:3304]
synonym: "FALLOT complex with severe mental and growth retardation" RELATED [OMIM:601127]
xref: GARD:893 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3304", source="Orphanet:3304/attributed", source="Orphanet:3304/ntbt"}
xref: MEDGEN:322025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536608 {source="MONDO:equivalentTo"}
xref: OMIM:601127 {source="MONDO:equivalentTo", source="Orphanet:3304", source="Orphanet:3304/e"}
xref: Orphanet:3304 {source="MONDO:equivalentTo", source="OMIM:601127"}
xref: SCTID:723336008 {source="MONDO:equivalentTo"}
xref: UMLS:C1832735 {source="MEDGEN:322025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:3304"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3304", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011000
name: guanylate cyclase 2E
synonym: "GC-E" RELATED [OMIM:601138]
synonym: "guanylate cyclase 2E" EXACT [MONDO:Lexical, OMIM:601138]
synonym: "guanylate cyclase 2E, pseudogene" RELATED [OMIM:601138]
synonym: "guanylate cyclase type 2E" EXACT [MONDORULE:4, OMIM:601138]
synonym: "guanylyl cyclase, Membrane, type E" RELATED [OMIM:601138]
synonym: "Gucy2D, mouse, homolog of" RELATED [OMIM:601138]
synonym: "GUCY2E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601138]
synonym: "GUCY2EP" RELATED ABBREVIATION [OMIM:601138]
xref: OMIM:601138 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011001
name: Brugada syndrome 1
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BRGDA1" EXACT ABBREVIATION [DOID:0110218, MONDO:Lexical, OMIM:601144]
synonym: "Brugada syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:601144]
synonym: "Brugada syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 1" EXACT [DOID:0110218, MONDORULE:1, OMIM:601144]
synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:601144]
synonym: "right bundle branch block, St segment elevation, and sudden death syndrome" RELATED [OMIM:601144]
synonym: "SCN5A Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sudden unexplained nocturnal death syndrome" RELATED [OMIM:601144]
xref: DOID:0110218 {source="MONDO:equivalentTo"}
xref: ICD10CM:I49.8 {source="DOID:0110218"}
xref: MEDGEN:1646402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601144 {source="DOID:0110218", source="MONDO:equivalentTo"}
xref: Orphanet:130 {source="OMIM:601144"}
xref: UMLS:C4551804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646402"}
is_a: MONDO:0015263 {source="DC-OMIM:601144", source="DOID:0110218", source="MONDO:Redundant", source="OMIM:601144"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A

[Term]
id: MONDO:0011002
name: neuropathy, hereditary motor and sensory, type 6A
def: "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18091", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Charcot-Marie-Tooth disease, type 6" BROAD [OMIM:601152]
synonym: "Charcot-Marie-Tooth disease, type 6A" EXACT [OMIM:601152]
synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2" EXACT [MONDO:design_pattern]
synonym: "hereditary motor and sensory neuropathy VIA" EXACT [OMIM:601152, OMIM:genemap2]
synonym: "HMSN 6A" RELATED [OMIM:601152]
synonym: "HMSN6A" EXACT ABBREVIATION [OMIM:601152]
synonym: "MFN2 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuropathy, hereditary motor and sensory, type 6" BROAD [OMIM:601152]
synonym: "neuropathy, hereditary motor and sensory, type VIA" EXACT [MONDO:Lexical, OMIM:601152]
synonym: "peripheral neuropathy and optic atrophy" BROAD [OMIM:601152]
xref: GARD:18091 {source="MONDO:GARD"}
xref: OMIM:601152 {source="MONDO:equivalentTo"}
xref: Orphanet:90120 {source="OMIM:601152"}
is_a: MONDO:0002316 {source="DC-OMIM:601152"} ! motor peripheral neuropathy
is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:601152"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019551 {source="MONDO:Redundant"} ! hereditary motor and sensory neuropathy type 6
intersection_of: MONDO:0019551 ! hereditary motor and sensory neuropathy type 6
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 ! MFN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 {source="MONDO:mim2gene_medgen"} ! MFN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011003
name: dilated cardiomyopathy 1E
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:5644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy dilated with conduction defect type 2" EXACT [MONDO:0022652]
synonym: "cardiomyopathy, dilated, 1E" EXACT [MONDO:Lexical, OMIM:601154]
synonym: "cardiomyopathy, dilated, type 1E" EXACT [MONDORULE:4, OMIM:601154]
synonym: "cardiomyopathy, dilated, with conduction defect 2" EXACT [OMIM:601154]
synonym: "cardiomyopathy, dilated, with conduction disorder and arrhythmia" EXACT [OMIM:601154]
synonym: "CDCD2" EXACT ABBREVIATION [DOID:0110433]
synonym: "CMD1E" EXACT ABBREVIATION [DOID:0110433, MONDO:Lexical, OMIM:601154]
synonym: "dilated cardiomyopathy type 1E" EXACT [DOID:0110433, MONDORULE:4]
synonym: "dilated cardiomyopathy with conduction defect 2" EXACT [DOID:0110433]
synonym: "dilated cardiomyopathy with conduction disorder and arrhythmia" EXACT [DOID:0110433]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "SCN5A familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110433 {source="MONDO:equivalentTo"}
xref: GARD:5644 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110433"}
xref: MEDGEN:331341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563384 {source="MONDO:equivalentTo"}
xref: OMIM:601154 {source="MONDO:equivalentTo", source="DOID:0110433"}
xref: Orphanet:154 {source="OMIM:601154"}
xref: UMLS:C1832680 {source="MEDGEN:331341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:601154"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-with-conduction-defect-type-2" xsd:anyURI {source="GARD:0005644"}

[Term]
id: MONDO:0011004
name: lissencephaly type 3-metacarpal bone dysplasia syndrome
def: "This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence." [Orphanet:86822]
subset: gard_rare {source="GARD:16763", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86822"}
subset: ordo_malformation_syndrome {source="Orphanet:86822"}
subset: orphanet_rare {source="Orphanet:86822"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lissencephaly type 3 and bone dysplasia" RELATED [OMIM:601160]
synonym: "lissencephaly type III and bone dysplasia" RELATED [OMIM:601160]
xref: GARD:16763 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:86822", source="Orphanet:86822/attributed", source="Orphanet:86822/ntbt"}
xref: MEDGEN:371379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563383 {source="MONDO:equivalentTo"}
xref: OMIM:601160 {source="MONDO:equivalentTo", source="Orphanet:86822", source="Orphanet:86822/e"}
xref: Orphanet:86822 {source="MONDO:equivalentTo", source="OMIM:601160"}
xref: SCTID:718720007 {source="MONDO:equivalentTo"}
xref: UMLS:C1832678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371379"}
is_a: MONDO:0015148 {source="Orphanet:86822"} ! lissencephaly type 3

[Term]
id: MONDO:0011005
name: trisomy 18-like syndrome
synonym: "trisomy 18-like syndrome" EXACT [OMIM:601161]
xref: MEDGEN:331340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563382 {source="MONDO:equivalentTo"}
xref: OMIM:601161 {source="MONDO:equivalentTo"}
xref: UMLS:C1832677 {source="MEDGEN:331340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563382/inferred"} ! hereditary disease

[Term]
id: MONDO:0011006
name: hereditary spastic paraplegia 9A
subset: gard_rare {source="GARD:9583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447753"}
subset: orphanet_rare {source="Orphanet:447753"}
subset: rare
synonym: "AD-SPG9A" EXACT [DOID:0110824, Orphanet:447753]
synonym: "autosomal dominant complex spastic paraplegia type 9A" EXACT [DOID:0110824]
synonym: "autosomal dominant spastic paraplegia 9A" EXACT [DOID:0110824]
synonym: "cataracts motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [DOID:0110824]
synonym: "cataracts with motor neuronopathy, short stature and skeletal abnormalities" EXACT [DOID:0110824]
synonym: "cataracts with motor neuronopathy, short stature, and skeletal abnormalities" RELATED [OMIM:601162]
synonym: "hereditary spastic paraplegia type 9A" EXACT [DOID:0110824, MONDORULE:4]
synonym: "spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux" EXACT [DOID:0110824]
synonym: "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux" RELATED [OMIM:601162]
synonym: "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux" RELATED [OMIM:601162]
synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" RELATED EXCLUDE [DOID:0110824]
synonym: "spastic paraplegia 9A, autosomal dominant" RELATED [MONDO:Lexical, OMIM:601162]
synonym: "SPG9A" EXACT ABBREVIATION [DOID:0110824, MONDO:Lexical, OMIM:601162]
xref: DOID:0110824 {source="MONDO:equivalentTo"}
xref: GARD:9583 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:447753", source="DOID:0110824", source="Orphanet:447753/attributed", source="Orphanet:447753/ntbt"}
xref: MEDGEN:1800401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536868 {source="MONDO:equivalentTo"}
xref: OMIM:601162 {source="Orphanet:447753", source="DOID:0110824", source="MONDO:equivalentTo", source="Orphanet:447753/e"}
xref: Orphanet:100990 {source="DOID:0110824", source="OMIM:601162"}
xref: Orphanet:447753 {source="DOID:0110824", source="MONDO:equivalentTo"}
xref: UMLS:C5568978 {source="MEDGEN:1800401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015091 {source="Orphanet:447753"} ! autosomal dominant spastic paraplegia type 9
is_a: MONDO:0019064 {source="DOID:0110824", source="MESH:C536868", source="MONDO:Redundant", source="OMIM:601162", source="Orphanet:447753/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="MONDO:mim2gene_medgen"} ! ALDH18A1
property_value: IAO:0000233 "https://github.com/Orphanet/ORDO/issues/8" xsd:anyURI

[Term]
id: MONDO:0011007
name: diaphragmatic defect-limb deficiency-skull defect syndrome
def: "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." [GARD:0002397]
subset: gard_rare {source="GARD:2397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2141"}
subset: ordo_malformation_syndrome {source="Orphanet:2141"}
subset: orphanet_rare {source="Orphanet:2141"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diaphragmatic defect limb deficiency skull defect" RELATED [GARD:0002397]
synonym: "diaphragmatic defects, limb deficiencies, and ossification defects of skull" RELATED [OMIM:601163]
synonym: "froster syndrome" RELATED [OMIM:601163]
synonym: "froster-Huch syndrome" EXACT [Orphanet:2141]
xref: GARD:2397 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2141/attributed", source="Orphanet:2141/ntbt", source="Orphanet:2141"}
xref: MEDGEN:371377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563380 {source="MONDO:equivalentTo"}
xref: OMIM:601163 {source="GARD:0002397", source="Orphanet:2141/e", source="MONDO:equivalentTo", source="Orphanet:2141"}
xref: Orphanet:2141 {source="GARD:0002397", source="MONDO:equivalentTo", source="OMIM:601163"}
xref: SCTID:721095007 {source="MONDO:equivalentTo"}
xref: UMLS:C1832668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371377"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2141"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2141", source="Orphanet:2141/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome" xsd:anyURI {source="GARD:0002397"}

[Term]
id: MONDO:0011008
name: cleft lip/palate-intestinal malrotation-cardiopathy syndrome
def: "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." [Orphanet:2001]
subset: gard_rare {source="GARD:3430", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2001"}
subset: ordo_malformation_syndrome {source="Orphanet:2001"}
subset: orphanet_rare {source="Orphanet:2001"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [GARD:0003430]
synonym: "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [OMIM:601165]
synonym: "McPherson Clemens syndrome" RELATED [GARD:0003430]
synonym: "McPherson-Clemens syndrome" EXACT [Orphanet:2001]
xref: GARD:3430 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2001", source="Orphanet:2001/attributed", source="Orphanet:2001/ntbt"}
xref: MEDGEN:444135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538160 {source="MONDO:equivalentTo"}
xref: OMIM:601165 {source="Orphanet:2001", source="MONDO:equivalentTo", source="Orphanet:2001/e"}
xref: Orphanet:2001 {source="OMIM:601165", source="MONDO:equivalentTo"}
xref: SCTID:719456001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931750 {source="MEDGEN:444135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2001"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0011009
name: muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
synonym: "muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers" EXACT [OMIM:601170]
xref: MEDGEN:331338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563378 {source="MONDO:equivalentTo"}
xref: OMIM:601170 {source="MONDO:equivalentTo"}
xref: UMLS:C1832665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331338"}
is_a: MONDO:0003847 {source="MESH:C563378/inferred"} ! hereditary disease

[Term]
id: MONDO:0011010
name: Matthew-Wood syndrome
def: "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." [Orphanet:2470]
subset: gard_rare {source="GARD:713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2470"}
subset: ordo_malformation_syndrome {source="Orphanet:2470"}
subset: orphanet_rare {source="Orphanet:2470"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm" RELATED [OMIM:601186]
synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [Orphanet:2470]
synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" RELATED [OMIM:601186]
synonym: "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" RELATED [GARD:0000713]
synonym: "Matthew Wood syndrome" RELATED [GARD:0000713]
synonym: "Matthew-Wood syndrome" EXACT [OMIM:601186]
synonym: "MCOPS9" EXACT ABBREVIATION [DOID:0050819, MONDO:Lexical, OMIM:601186, Orphanet:2470]
synonym: "microphthalmia syndromic 9" RELATED [GARD:0000713]
synonym: "microphthalmia syndromic type 9" EXACT [DOID:0050819]
synonym: "microphthalmia, isolated, with coloboma 8" RELATED [OMIM:601186]
synonym: "microphthalmia, syndromic 9" RELATED [MONDO:Lexical, OMIM:601186]
synonym: "microphthalmia, syndromic type 9" EXACT [MONDORULE:1, OMIM:601186]
synonym: "pulmonary agenesis microphthalmi and diaphragmatic defect" RELATED [GARD:0000713]
synonym: "pulmonary agenesis, microphthalmia, and diaphragmatic defect" RELATED [OMIM:601186]
synonym: "pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect" RELATED [OMIM:601186]
synonym: "spear syndrome" RELATED [OMIM:601186]
synonym: "syndromic microphthalmia type 9" EXACT [Orphanet:2470]
xref: DOID:0050819 {source="MONDO:equivalentObsolete"}
xref: DOID:0111807 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:713 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:2470/attributed", source="Orphanet:2470/ntbt", source="Orphanet:2470"}
xref: MEDGEN:318679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537768 {source="MONDO:equivalentTo"}
xref: OMIM:601186 {source="DOID:0050819", source="Orphanet:2470/e", source="MONDO:equivalentTo", source="Orphanet:2470"}
xref: Orphanet:2470 {source="MONDO:equivalentTo", source="OMIM:601186"}
xref: Orphanet:98938 {source="MONDO:relatedTo", source="OMIM:601186"}
xref: SCTID:722458000 {source="MONDO:equivalentTo"}
xref: UMLS:C1832661 {source="MEDGEN:318679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:2470", source="Orphanet:2470/inferred"} ! respiratory system disorder
is_a: MONDO:0015161 {source="Orphanet:2470"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0015929 {source="Orphanet:2470"} ! thoracic malformation
is_a: MONDO:0016073 {source="OMIM:601186", source="Orphanet:2470"} ! syndromic microphthalmia
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2470", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30650 {source="MONDO:mim2gene_medgen"} ! STRA6

[Term]
id: MONDO:0011011
name: skeletal dysplasia-epilepsy-short stature syndrome
def: "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." [Orphanet:1858]
subset: gard_rare {source="GARD:350", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1858"}
subset: ordo_malformation_syndrome {source="Orphanet:1858"}
subset: orphanet_rare {source="Orphanet:1858"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GURRIERI syndrome" RELATED [OMIM:601187]
synonym: "Gurrieri-Sammito-Bellussi syndrome" EXACT [Orphanet:1858]
synonym: "intellectual disability, epilepsy, short stature and skeletal dysplasia" RELATED [GARD:0000350]
synonym: "mental retardation, epilepsy, short stature and skeletal dysplasia" RELATED DEPRECATED [GARD:0000350]
xref: GARD:350 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:1858/attributed", source="Orphanet:1858/ntbt", source="Orphanet:1858"}
xref: MEDGEN:208660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537625 {source="MONDO:equivalentTo"}
xref: OMIM:601187 {source="Orphanet:1858/e", source="MONDO:equivalentTo", source="Orphanet:1858"}
xref: Orphanet:1858 {source="OMIM:601187", source="MONDO:equivalentTo"}
xref: SCTID:715428003 {source="MONDO:equivalentTo"}
xref: UMLS:C0796046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208660"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:8882779", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0019054 ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1858", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011012
name: African iron overload
def: "African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." [Orphanet:139507]
subset: gard_rare {source="GARD:8495", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:740"}
subset: ordo_disorder {source="Orphanet:139507"}
subset: orphanet_rare {source="Orphanet:139507"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "African iron overload" EXACT [OMIM:601195]
synonym: "Bantu siderosis" EXACT [DOID:0111033, OMIM:601195, Orphanet:139507]
synonym: "hereditary iron overload and African Americans" RELATED [GARD:0008495]
synonym: "iron overload in Africa" EXACT [DOID:0111033, OMIM:601195]
xref: DOID:0111033 {source="MONDO:equivalentTo"}
xref: GARD:8495 {source="MONDO:GARD"}
xref: ICD10CM:E83.1 {source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/attributed", source="Orphanet:139507/ntbt"}
xref: MEDGEN:75649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537904 {source="MONDO:equivalentTo"}
xref: NORD:740 {source="MONDO:NORD"}
xref: OMIM:601195 {source="MONDO:equivalentTo", source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/e"}
xref: Orphanet:139507 {source="MONDO:equivalentTo", source="DOID:0111033", source="OMIM:601195"}
xref: SCTID:66576001 {source="MONDO:equivalentTo"}
xref: UMLS:C0268063 {source="MONDO:equivalentTo", source="MEDGEN:75649", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="Orphanet:139507"} ! metabolic disease
is_a: MONDO:0006507 {source="DOID:0111033", source="MONDO:Redundant", source="OMIM:601195"} ! hereditary hemochromatosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare

[Term]
id: MONDO:0011013
name: autosomal dominant hypocalcemia 1
def: "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant hypocalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant hypocalcemia type 1" EXACT [DOID:0090107, MONDORULE:1]
synonym: "CASR autosomal dominant hypocalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypercalciuric hypocalcemia" RELATED [OMIM:601198]
synonym: "HYPOC1" EXACT ABBREVIATION [DOID:0090107, MONDO:Lexical, OMIM:601198]
synonym: "hypocalcemia, autosomal dominant" BROAD [OMIM:601198, OMIM:genemap2]
synonym: "hypocalcemia, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:601198]
synonym: "hypocalcemia, autosomal dominant 1, with Bartter syndrome" RELATED [OMIM:601198]
synonym: "hypocalcemia, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:601198]
synonym: "hypocalcemia, autosomal dominant, with Bartter syndrome" EXACT [OMIM:601198, OMIM:genemap2]
synonym: "hypocalcemia, familial" RELATED [OMIM:601198]
xref: DOID:0090107 {source="MONDO:equivalentTo"}
xref: MEDGEN:87438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601198 {source="MONDO:equivalentTo", source="DOID:0090107"}
xref: Orphanet:112 {source="OMIM:601198", source="MONDO:relatedTo"}
xref: Orphanet:2238 {source="OMIM:601198"}
xref: Orphanet:263417 {source="OMIM:601198", source="MONDO:relatedTo"}
xref: Orphanet:428 {source="OMIM:601198"}
xref: UMLS:C0342345 {source="MEDGEN:87438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018543 {source="DOID:0090107", source="MONDO:Redundant", source="OMIM:601198"} ! autosomal dominant hypocalcemia
intersection_of: MONDO:0018543 ! autosomal dominant hypocalcemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 ! CASR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 {source="MONDO:mim2gene_medgen"} ! CASR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011014
name: pleuropulmonary blastoma
def: "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." [NCIT:C5669]
subset: gard_rare {source="GARD:8757", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64742"}
subset: orphanet_rare {source="Orphanet:64742"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood pulmonary blastoma" EXACT [MONDO:design_pattern]
synonym: "paediatric pulmonary blastoma" EXACT OMO:0003005 []
synonym: "pediatric pulmonary blastoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "pleuropulmonary blastoma" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C5669, OMIM:601200]
synonym: "pleuropulmonary blastoma (morphologic abnormality)" EXACT [DOID:4769]
synonym: "PPB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601200]
synonym: "PPB familial tumor and dysplasia syndrome" RELATED [OMIM:601200]
synonym: "PPB familial tumour and dysplasia syndrome" RELATED OMO:0003005 []
synonym: "pulmonary blastoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C5669]
xref: DOID:4769 {source="MONDO:equivalentTo"}
xref: EFO:0009052 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8757 {source="MONDO:GARD"}
xref: ICD10CM:C34.1 {source="Orphanet:64742", source="Orphanet:64742/btnt"}
xref: ICD10CM:C34.2 {source="Orphanet:64742", source="Orphanet:64742/btnt"}
xref: ICD10CM:C34.3 {source="Orphanet:64742", source="Orphanet:64742/btnt"}
xref: ICD10CM:C34.9 {source="Orphanet:64742", source="Orphanet:64742/btnt"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8973/3 {source="NCIT:C5669"}
xref: MEDGEN:266105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537516 {source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e"}
xref: NANDO:2200080 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C5669 {source="MONDO:equivalentTo", source="DOID:4769", source="MONDO:exact-label-match"}
xref: OMIM:601200 {source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e"}
xref: ONCOTREE:PPB {source="MONDO:equivalentTo"}
xref: Orphanet:284343 {source="OMIM:601200"}
xref: Orphanet:64742 {source="OMIM:601200", source="MONDO:equivalentTo"}
xref: SCTID:128763002 {source="DOID:4769"}
xref: SCTID:707670009 {source="MONDO:equivalentTo", source="DOID:4769"}
xref: UMLS:C1266144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266105"}
is_a: MONDO:0005565 {source="DOID:4769/inferred", source="MONDO:Redundant", source="NCIT:C5669"} ! blastoma
is_a: MONDO:0005933 {source="DOID:4769", source="MESH:C537516", source="MONDO:Redundant"} ! pulmonary blastoma
is_a: MONDO:0100216 {source="https://clinicalgenome.org/affiliation/40023/"} ! DICER1-related tumor predisposition
intersection_of: MONDO:0005933 ! pulmonary blastoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 {source="MONDO:mim2gene_medgen"} ! DICER1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7051" xsd:anyURI

[Term]
id: MONDO:0011015
name: cataract 24
def: "A cataract that has material basis in variation in the region 17p13." [DOID:0110257, PMID:8852669]
subset: gard_rare {source="GARD:15327", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anterior polar cataract 2" NARROW [DOID:0110257]
synonym: "anterior polar cataract 24" NARROW [DOID:0110257]
synonym: "cataract 24" EXACT [MONDO:Lexical, OMIM:601202]
synonym: "cataract 24, anterior polar" RELATED [OMIM:601202]
synonym: "cataract type 24" EXACT [DOID:0110257, MONDORULE:2]
synonym: "cataract, anterior polar, 2" RELATED [OMIM:601202]
synonym: "CTAA2" NARROW ABBREVIATION [DOID:0110257]
synonym: "CTRCT24" EXACT ABBREVIATION [DOID:0110257, MONDO:Lexical, OMIM:601202]
xref: DOID:0110257 {source="MONDO:equivalentTo"}
xref: GARD:15327 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110257"}
xref: MEDGEN:371364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537774 {source="MONDO:equivalentTo"}
xref: OMIM:601202 {source="MONDO:equivalentTo", source="DOID:0110257"}
xref: Orphanet:91492 {source="OMIM:601202"}
xref: Orphanet:98988 {source="OMIM:601202"}
xref: UMLS:C1832609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371364"}
is_a: MONDO:0005129 {source="DOID:0110257", source="MESH:C537774", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:601202"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
is_a: MONDO:0020373 {source="Orphanet:98988/btnt"} ! early-onset anterior polar cataract
is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract

[Term]
id: MONDO:0011016
name: type 1 diabetes mellitus 11
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31." [DOID:0110750, MONDO:patterns/inherited_susceptibility, PMID:8617492]
synonym: "diabetes mellitus, insulin-dependent, 11" RELATED [MONDO:Lexical, OMIM:601208]
synonym: "IDDM11" EXACT ABBREVIATION [DOID:0110750, MONDO:Lexical, OMIM:601208]
synonym: "insulin-dependent diabetes mellitus 11" EXACT [DOID:0110750, OMIM:601208]
xref: DOID:0110750 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110750"}
xref: MEDGEN:321994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563371 {source="MONDO:equivalentTo"}
xref: OMIM:601208 {source="MONDO:equivalentTo", source="DOID:0110750"}
xref: UMLS:C1832605 {source="MEDGEN:321994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:601208"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:601208", source="DOID:0110750", source="MESH:C563371", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:601208"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0011017
name: Naxos disease
def: "A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma." [https://orcid.org/0000-0001-5208-3432, Orphanet:34217]
subset: gard_rare {source="GARD:9795", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:34217"}
subset: orphanet_rare {source="Orphanet:34217"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities" RELATED [OMIM:601214]
synonym: "keratoderma with woolly hair type I" EXACT OMO:0003005 []
synonym: "keratoderma with wooly hair type I" EXACT [Orphanet:34217]
synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair" RELATED OMO:0003005 []
synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair" RELATED [GARD:0009795]
synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" RELATED [OMIM:601214]
synonym: "keratosis palmoplantaris with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217]
synonym: "KWWH type I" EXACT [Orphanet:34217]
synonym: "Mal De Naxos" RELATED [OMIM:601214]
synonym: "NAXOS disease" EXACT [OMIM:601214]
synonym: "Naxos disease" EXACT [MONDO:Lexical, OMIM:601214]
synonym: "NXD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601214]
synonym: "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217]
synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" RELATED OMO:0003005 []
synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair" RELATED [OMIM:601214]
synonym: "palmoplantar keratoderma with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217]
synonym: "woolly hair palmoplantar keratoderma cardiac abnormalities" RELATED OMO:0003005 []
synonym: "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED OMO:0003005 []
synonym: "wooly hair palmoplantar keratoderma cardiac abnormalities" RELATED [GARD:0009795]
synonym: "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED [OMIM:601214]
xref: DOID:0080551 {source="MONDO:equivalentTo"}
xref: GARD:9795 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:34217", source="Orphanet:34217/attributed", source="Orphanet:34217/ntbt"}
xref: MEDGEN:321991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538346 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"}
xref: OMIM:601214 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"}
xref: Orphanet:34217 {source="OMIM:601214", source="MONDO:equivalentTo"}
xref: SCTID:715535009 {source="MONDO:equivalentTo"}
xref: UMLS:C1832600 {source="MEDGEN:321991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016587 {source="MESH:C538346", source="Orphanet:34217"} ! arrhythmogenic right ventricular cardiomyopathy
is_a: MONDO:0100080 {source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome
relationship: excluded_subClassOf MONDO:0017666 {source="MONDO:0017671-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0019282 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hair shaft abnormality
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:601214", source="Orphanet:34217"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6207 {source="MONDO:mim2gene_medgen"} ! JUP
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9795/naxos-disease" xsd:anyURI {source="GARD:0009795"}

[Term]
id: MONDO:0011018
name: brachyolmia-amelogenesis imperfecta syndrome
def: "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." [Orphanet:2899]
subset: gard_rare {source="GARD:5478", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2899"}
subset: ordo_malformation_syndrome {source="Orphanet:2899"}
subset: orphanet_rare {source="Orphanet:2899"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amelogenesis imperfecta and platyspondyly" RELATED [GARD:0005478]
synonym: "DASS" EXACT ABBREVIATION [DOID:0090143, MONDO:Lexical, OMIM:601216]
synonym: "dental anomalies and short stature" EXACT [DOID:0090143, MONDO:Lexical, OMIM:601216]
synonym: "platyspondyly with amelogenesis imperfecta" EXACT [DOID:0090143, OMIM:601216]
synonym: "platyspondyly-amelogenesis imperfecta syndrome" EXACT [Orphanet:2899]
synonym: "selective tooth agenesis 5" EXACT [DOID:0090143]
synonym: "skeletal dysplasia with amelogenesis imperfecta and platyspondyly" RELATED [GARD:0005478]
synonym: "STHAG6" EXACT ABBREVIATION [DOID:0090143]
synonym: "tooth agenesis, selective, 6" EXACT [OMIM:601216]
synonym: "tooth agenesis, selective, 6, formerly" RELATED [OMIM:601216]
synonym: "Verloes Bourguignon syndrome" RELATED [GARD:0005478]
synonym: "Verloes-Bourguignon syndrome" EXACT [Orphanet:2899]
xref: DOID:0090143 {source="MONDO:equivalentTo"}
xref: GARD:5478 {source="MONDO:GARD"}
xref: ICD10CM:Q76.3 {source="DOID:0090143", source="Orphanet:2899", source="Orphanet:2899/attributed", source="Orphanet:2899/ntbt"}
xref: MEDGEN:318659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601216 {source="DOID:0090143", source="MONDO:equivalentTo", source="Orphanet:2899", source="Orphanet:2899/e"}
xref: Orphanet:2899 {source="DOID:0090143", source="MONDO:equivalentTo", source="OMIM:601216"}
xref: SCTID:716195006 {source="MONDO:equivalentTo"}
xref: UMLS:C1832594 {source="MEDGEN:318659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="GARD:0005478", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disorder
is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6716 {source="MONDO:mim2gene_medgen"} ! LTBP3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011019
name: alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
def: "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." [Orphanet:1014]
subset: gard_rare {source="GARD:16553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1014"}
subset: orphanet_rare {source="Orphanet:1014"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism" RELATED [OMIM:601217]
synonym: "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" RELATED DEPRECATED [OMIM:601217]
synonym: "Devriendt-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1014]
xref: GARD:16553 {source="MONDO:GARD"}
xref: MEDGEN:321990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563370 {source="MONDO:equivalentTo"}
xref: OMIM:601217 {source="Orphanet:1014", source="MONDO:equivalentTo", source="Orphanet:1014/e"}
xref: Orphanet:1014 {source="MONDO:equivalentTo", source="OMIM:601217"}
xref: SCTID:720981000 {source="MONDO:equivalentTo"}
xref: UMLS:C1832593 {source="MEDGEN:321990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="MESH:C563370", source="Orphanet:1014"} ! alopecia

[Term]
id: MONDO:0011020
name: osteoporosis-oculocutaneous hypopigmentation syndrome
def: "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive." [Orphanet:2786]
subset: gard_rare {source="GARD:404", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2786"}
subset: ordo_malformation_syndrome {source="Orphanet:2786"}
subset: orphanet_rare {source="Orphanet:2786"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hernández-Fragoso syndrome" EXACT [Orphanet:2786]
synonym: "OOCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601220]
synonym: "OOCH syndrome" RELATED [GARD:0000404]
synonym: "OOCHS" EXACT ABBREVIATION [Orphanet:2786]
synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" RELATED [MONDO:Lexical, OMIM:601220]
synonym: "osteoporosis oculocutaneous hypopigmentation syndrome" RELATED [GARD:0000404]
xref: GARD:404 {source="MONDO:GARD"}
xref: MEDGEN:331321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536062 {source="MONDO:equivalentTo"}
xref: OMIM:601220 {source="Orphanet:2786", source="MONDO:equivalentTo", source="Orphanet:2786/e"}
xref: Orphanet:2786 {source="OMIM:601220", source="MONDO:equivalentTo"}
xref: SCTID:722113001 {source="MONDO:equivalentTo"}
xref: UMLS:C1832592 {source="MONDO:equivalentTo", source="MEDGEN:331321", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="GARD:0000404"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="OMIM:601220"} ! hereditary disease
relationship: disease_has_feature HP:0004349 {source="Orphanet:2786"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2786", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome" xsd:anyURI {source="GARD:0000404"}

[Term]
id: MONDO:0011021
name: neuronal intestinal dysplasia, type B
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neuronal intestinal dysplasia, type B" EXACT [OMIM:601223]
synonym: "NID B" EXACT [OMIM:601223]
xref: DOID:0080680 {source="MONDO:equivalentTo"}
xref: MEDGEN:318658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601223 {source="MONDO:equivalentTo"}
xref: Orphanet:2978 {source="OMIM:601223"}
xref: UMLS:C1832589 {source="MEDGEN:318658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000858 {source="DC-OMIM:601223"} ! neuronal intestinal dysplasia
is_a: MONDO:0017574 {source="Orphanet:2978/btnt"} ! chronic intestinal pseudoobstruction

[Term]
id: MONDO:0011022
name: Potocki-Shaffer syndrome
def: "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." [Orphanet:52022]
subset: gard_rare {source="GARD:9762", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52022"}
subset: ordo_malformation_syndrome {source="Orphanet:52022"}
subset: orphanet_rare {source="Orphanet:52022"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "11p11.2 deletion" EXACT [Orphanet:52022]
synonym: "chromosome 11P11.2 deletion syndrome" RELATED [OMIM:601224]
synonym: "Defect11 syndrome" RELATED [OMIM:601224]
synonym: "deletion of chromosome 11p11.2" RELATED [GARD:0009762]
synonym: "Potocki-Shaffer syndrome" EXACT [OMIM:601224]
synonym: "proximal 11P deletion syndrome" RELATED [OMIM:601224]
synonym: "proximal 11p deletion syndrome" EXACT [Orphanet:52022]
synonym: "PSS" RELATED ABBREVIATION [OMIM:601224]
xref: DECIPHER:34 {source="MONDO:equivalentTo"}
xref: DOID:0111687 {source="MONDO:equivalentTo"}
xref: GARD:9762 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:52022/attributed", source="Orphanet:52022/ntbt", source="Orphanet:52022"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:318657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538356 {source="Orphanet:52022/e", source="MONDO:equivalentTo", source="Orphanet:52022"}
xref: NCIT:C75456 {source="MONDO:equivalentTo"}
xref: OMIM:601224 {source="Orphanet:52022/e", source="MONDO:equivalentTo", source="Orphanet:52022"}
xref: Orphanet:52022 {source="OMIM:601224", source="MONDO:equivalentTo"}
xref: SCTID:702346005 {source="MONDO:equivalentTo"}
xref: UMLS:C1832588 {source="MEDGEN:318657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C75456"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:52022"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016893 {source="Orphanet:52022"} ! partial deletion of the short arm of chromosome 11
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:52022", source="Orphanet:52022/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0011023
name: hereditary mixed polyposis syndrome
def: "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." [Orphanet:157794]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16981", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157794"}
subset: orphanet_rare {source="Orphanet:157794"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary mixed polyposis syndrome" EXACT CLINGEN_LABEL []
synonym: "HMPS" EXACT ABBREVIATION [Orphanet:157794]
xref: DOID:0111684 {source="MONDO:equivalentTo"}
xref: GARD:16981 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:157794", source="Orphanet:157794/attributed", source="Orphanet:157794/ntbt"}
xref: MEDGEN:1672870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563365 {source="MONDO:equivalentTo"}
xref: OMIMPS:601228 {source="MONDO:equivalentTo"}
xref: Orphanet:157794 {source="MONDO:equivalentTo"}
xref: UMLS:C5192681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672870"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0015185 {source="Orphanet:157794", source="https://orcid.org/0000-0002-3458-4839"} ! intestinal polyposis syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601228"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0011024
name: dermatitis herpetiformis, familial
def: "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone." [GARD:0001917]
subset: gard_rare {source="GARD:1917", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brocq-Duhring disease" RELATED [GARD:0001917]
synonym: "dermatitis herpetiformis, familial" EXACT [OMIM:601230]
synonym: "DH" RELATED ABBREVIATION [GARD:0001917, OMIM:601230]
synonym: "Duhring Brocq disease" RELATED [GARD:0001917]
synonym: "Duhring's disease" RELATED [GARD:0001917]
synonym: "hereditary dermatitis herpetiformis" EXACT [MONDO:patterns/hereditary]
xref: GARD:1917 {source="MONDO:GARD"}
xref: MEDGEN:371361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538218 {source="MONDO:equivalentTo"}
xref: OMIM:601230 {source="MONDO:equivalentTo", source="GARD:0001917"}
xref: Orphanet:1656 {source="GARD:0001917", source="OMIM:601230"}
xref: UMLS:C1832586 {source="MONDO:equivalentTo", source="MEDGEN:371361", source="MONDO:MEDGEN"}
is_a: MONDO:0015614 {source="MESH:C538218", source="MONDO:Redundant", source="Orphanet:1656/btnt"} ! dermatitis herpetiformis
intersection_of: MONDO:0015614 ! dermatitis herpetiformis
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis" xsd:anyURI {source="GARD:0001917"}

[Term]
id: MONDO:0011025
name: Cayman type cerebellar ataxia
def: "Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia." [Orphanet:94122]
subset: gard_rare {source="GARD:16836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94122"}
subset: orphanet_rare {source="Orphanet:94122"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia, cerebellar, Cayman type" EXACT [OMIM:601238, OMIM:genemap2]
synonym: "ATCAY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601238]
synonym: "Cayman ataxia" EXACT [Orphanet:94122]
synonym: "Cayman cerebellar ataxia" EXACT [DOID:0060694]
synonym: "Cayman type cerebellar ataxia" EXACT CLINGEN_LABEL []
synonym: "cerebellar ataxia, CAYMAN type" RELATED [OMIM:601238]
synonym: "cerebellar ataxia, Cayman type" RELATED [MONDO:Lexical, OMIM:601238]
xref: DOID:0060694 {source="MONDO:equivalentTo"}
xref: GARD:16836 {source="MONDO:GARD"}
xref: ICD10CM:G11.0 {source="Orphanet:94122/attributed", source="Orphanet:94122/ntbt", source="DOID:0060694", source="Orphanet:94122"}
xref: MEDGEN:331319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563363 {source="DOID:0060694", source="MONDO:equivalentTo"}
xref: OMIM:601238 {source="DOID:0060694", source="Orphanet:94122", source="MONDO:equivalentTo", source="Orphanet:94122/e"}
xref: Orphanet:94122 {source="DOID:0060694", source="MONDO:equivalentTo", source="OMIM:601238"}
xref: SCTID:717332007 {source="MONDO:equivalentTo"}
xref: UMLS:C1832585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331319"}
is_a: MONDO:0020043 {source="Orphanet:94122"} ! autosomal recessive congenital cerebellar ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/779 {source="MONDO:mim2gene_medgen"} ! ATCAY
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011026
name: autosomal recessive congenital ichthyosis 4A
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCI4A" EXACT ABBREVIATION [DOID:0060712, MONDO:Lexical, OMIM:601277]
synonym: "autosomal recessive congenital ichthyosis type 4A" EXACT [DOID:0060712, MONDORULE:4]
synonym: "ichthyosis congenita 2B" RELATED [OMIM:601277]
synonym: "ichthyosis congenita IIB" EXACT [DOID:0060712]
synonym: "ichthyosis lamellar 2" RELATED [GARD:0009733]
synonym: "ichthyosis, congenital, autosomal recessive 4A" RELATED [MONDO:Lexical, OMIM:601277]
synonym: "ichthyosis, congenital, autosomal recessive type 4A" EXACT [MONDORULE:4, OMIM:601277]
synonym: "ichthyosis, lamellar, 2" RELATED [OMIM:601277]
synonym: "ichthyosis, lamellar, 2, formerly" RELATED [OMIM:601277]
synonym: "ICR2B" EXACT ABBREVIATION [DOID:0060712]
synonym: "lamellar ichthyosis 2" EXACT [DOID:0060712]
synonym: "lamellar ichthyosis, type 2" RELATED [GARD:0009733]
synonym: "LI2" RELATED ABBREVIATION [GARD:0009733]
xref: DOID:0060712 {source="MONDO:equivalentTo"}
xref: GARD:9733 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060712"}
xref: MEDGEN:371355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537264 {source="MONDO:equivalentTo"}
xref: OMIM:601277 {source="MONDO:equivalentTo", source="DOID:0060712"}
xref: Orphanet:313 {source="OMIM:601277"}
xref: UMLS:C1832550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371355"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:601277"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017778 {source="MESH:C537264", source="Orphanet:313/btnt"} ! lamellar ichthyosis
intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14637 ! ABCA12
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14637 {source="MONDO:mim2gene_medgen"} ! ABCA12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011027
name: diabetes mellitus, noninsulin-dependent, 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diabetes mellitus, noninsulin-dependent 1" EXACT [OMIM:601283, OMIM:genemap2]
synonym: "diabetes mellitus, noninsulin-dependent, 1" EXACT [MONDO:Lexical, OMIM:601283]
synonym: "diabetes mellitus, noninsulin-dependent, type 1" EXACT [MONDORULE:1, OMIM:601283]
synonym: "NIDDM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601283]
synonym: "noninsulin-dependent diabetes mellitus 1" RELATED [OMIM:601283]
xref: MEDGEN:321979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563359 {source="MONDO:equivalentTo"}
xref: OMIM:601283 {source="MONDO:equivalentTo"}
xref: UMLS:C1832544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321979"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005148 {source="DC-OMIM:601283", source="MESH:C563359"} ! type 2 diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1477 {source="MONDO:mim2gene_medgen"} ! CAPN10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011028
name: autosomal recessive limb-girdle muscular dystrophy type 2F
def: "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." [Orphanet:219]
subset: gard_rare {source="GARD:8573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:219"}
subset: orphanet_rare {source="Orphanet:219"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" EXACT [MONDO:design_pattern]
synonym: "delta-sarcoglycanopathy" BROAD [DOID:0110280, Orphanet:219]
synonym: "LGMD2F" EXACT ABBREVIATION [DOID:0110280, GARD:0008573, MESH:C535896, MONDO:Lexical, OMIM:601287, Orphanet:219]
synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT [DOID:0110280, Orphanet:219]
synonym: "limb-girdle muscular dystrophy type 2F" RELATED [GARD:0008573]
synonym: "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency" RELATED [GARD:0008573, MESH:C535896]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 6" EXACT [OMIM:601287, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2F" RELATED [MESH:C535896, MONDO:Lexical, OMIM:601287]
synonym: "SGCD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110280 {source="MONDO:equivalentTo"}
xref: GARD:8573 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:219/inclusion", source="DOID:0110280", source="Orphanet:219", source="Orphanet:219/ntbt"}
xref: MEDGEN:331308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535896 {source="MONDO:equivalentTo"}
xref: OMIM:601287 {source="DOID:0110280", source="MONDO:equivalentTo", source="Orphanet:219", source="GARD:0008573", source="Orphanet:219/e"}
xref: Orphanet:219 {source="OMIM:601287", source="DOID:0110280", source="MONDO:equivalentTo", source="GARD:0008573"}
xref: SCTID:718177001 {source="MONDO:equivalentTo"}
xref: UMLS:C1832525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331308"}
is_a: MONDO:0015152 {source="DOID:0110280", source="MONDO:Redundant", source="OMIM:601287", source="Orphanet:219"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016144 {source="Orphanet:219"} ! qualitative or quantitative defects of delta-sarcoglycan
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0019056 ! neuromuscular disease
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10807 ! SGCD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10807 {source="MONDO:mim2gene_medgen"} ! SGCD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f" xsd:anyURI {source="GARD:0008573"}

[Term]
id: MONDO:0011029
name: myeloid tumor suppressor
synonym: "myeloid leukemia-related locus" RELATED [OMIM:601308]
synonym: "myeloid tumor suppressor" EXACT [OMIM:601308]
xref: MEDGEN:318644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601308 {source="MONDO:equivalentTo"}
xref: UMLS:C1832510 {source="MEDGEN:318644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011030
name: epithelial basolateral chloride conductance regulator, rabbit, homolog of
synonym: "Ebcr" RELATED [OMIM:601315]
synonym: "epithelial basolateral chloride conductance regulator, rabbit, homolog of" EXACT [OMIM:601315]
xref: MEDGEN:321967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601315 {source="MONDO:equivalentTo"}
xref: UMLS:C1832477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321967"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011031
name: autosomal dominant nonsyndromic hearing loss 10
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 10" NARROW [DOID:0110542]
synonym: "autosomal dominant nonsyndromic deafness 10" NARROW [OMIM:601316]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in EYA4" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 10" NARROW [DOID:0110542, MONDORULE:2]
synonym: "autosomal dominant nonsyndromic hearing loss 10" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal dominant 10" NARROW [MONDO:Lexical, OMIM:601316, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 10" NARROW [MONDORULE:2, OMIM:601316]
synonym: "DFNA10" NARROW ABBREVIATION [DOID:0110542, MONDO:Lexical, OMIM:601316]
synonym: "EYA4 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110542 {source="MONDO:equivalentTo"}
xref: GARD:18103 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110542"}
xref: MEDGEN:321966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563354 {source="MONDO:equivalentTo"}
xref: OMIM:601316 {source="MONDO:equivalentTo", source="DOID:0110542"}
xref: UMLS:C1832476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321966"}
is_a: MONDO:0019587 {source="DC-OMIM:601316", source="DOID:0110542", source="MONDO:Redundant", source="OMIM:601316"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3522 ! EYA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3522 {source="MONDO:mim2gene_medgen"} ! EYA4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011032
name: autosomal dominant nonsyndromic hearing loss 11
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18104", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 11" NARROW [DOID:0110543]
synonym: "autosomal dominant nonsyndromic deafness 11" NARROW [OMIM:601317]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO7A" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 11" NARROW [DOID:0110543, MONDORULE:2]
synonym: "deafness, autosomal dominant 11" NARROW [MONDO:Lexical, OMIM:601317, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 11" NARROW [MONDORULE:2, OMIM:601317]
synonym: "DFNA11" NARROW ABBREVIATION [DOID:0110543, MONDO:Lexical, OMIM:601317]
synonym: "MYO7A autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110543 {source="MONDO:equivalentTo"}
xref: GARD:18104 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110543"}
xref: MEDGEN:331297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563353 {source="MONDO:equivalentTo"}
xref: OMIM:601317 {source="MONDO:equivalentTo", source="DOID:0110543"}
xref: Orphanet:90635 {source="OMIM:601317"}
xref: UMLS:C1832475 {source="MEDGEN:331297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:601317", source="DOID:0110543", source="MONDO:Redundant", source="OMIM:601317"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 ! MYO7A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 {source="MONDO:mim2gene_medgen"} ! MYO7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011033
name: type 1 diabetes mellitus 13
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34." [DOID:0110752, MONDO:patterns/inherited_susceptibility, PMID:8650584]
synonym: "diabetes mellitus, insulin-dependent, 13" RELATED [MONDO:Lexical, OMIM:601318]
synonym: "IDDM13" EXACT ABBREVIATION [DOID:0110752, MONDO:Lexical, OMIM:601318]
synonym: "insulin-dependent diabetes mellitus 13" EXACT [DOID:0110752, OMIM:601318]
xref: DOID:0110752 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110752"}
xref: MEDGEN:371337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563352 {source="MONDO:equivalentTo"}
xref: OMIM:601318 {source="MONDO:equivalentTo", source="DOID:0110752"}
xref: UMLS:C1832474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371337"}
is_a: MONDO:0020573 {source="OMIM:601318"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:601318", source="DOID:0110752", source="MESH:C563352", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:601318"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0011034
name: odontomicronychial dysplasia
def: "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails." [Orphanet:1811]
subset: gard_rare {source="GARD:4053", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1811"}
subset: ordo_malformation_syndrome {source="Orphanet:1811"}
subset: orphanet_rare {source="Orphanet:1811"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia, nail/Tooth type" RELATED [OMIM:601319]
synonym: "odonto-micronychial dysplasia" RELATED [GARD:0004053]
synonym: "odontomicronychial dysplasia" EXACT [OMIM:601319]
xref: GARD:4053 {source="MONDO:GARD"}
xref: MEDGEN:371336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537741 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"}
xref: OMIM:601319 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"}
xref: Orphanet:1811 {source="MONDO:equivalentTo", source="OMIM:601319"}
xref: UMLS:C1832473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371336"}
is_a: MONDO:0019287 {source="Orphanet:1811", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia" xsd:anyURI {source="GARD:0004053"}

[Term]
id: MONDO:0011035
name: neurofibromatosis-Noonan syndrome
def: "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." [Orphanet:638]
subset: gard_rare {source="GARD:372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:638"}
subset: ordo_malformation_syndrome {source="Orphanet:638"}
subset: orphanet_rare {source="Orphanet:638"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [Orphanet:638]
synonym: "neurofibromatosis with Noonan phenotype" RELATED [OMIM:601321]
synonym: "neurofibromatosis-Noonan syndrome" EXACT [MONDO:Lexical, OMIM:601321]
synonym: "NFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601321, Orphanet:638]
synonym: "Noonan neurofibromatosis syndrome" RELATED [GARD:0000372]
synonym: "Noonan-neurofibromatosis syndrome" RELATED [OMIM:601321]
xref: DOID:0111683 {source="MONDO:equivalentTo"}
xref: GARD:372 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:638", source="Orphanet:638/attributed", source="Orphanet:638/ntbt"}
xref: MEDGEN:419089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537393 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"}
xref: MESH:D009456 {source="Orphanet:638", source="Orphanet:638/e", source="MONDO:directSiblingOf"}
xref: OMIM:601321 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"}
xref: Orphanet:638 {source="OMIM:601321", source="MONDO:equivalentTo"}
xref: SCTID:715344006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419089"}
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021060 {source="Orphanet:textdef", source="https://orcid.org/0000-0002-6601-2165"} ! RASopathy
is_a: MONDO:0021061 {source="https://orcid.org/0000-0001-6330-7526"} ! neurofibromatosis
relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:638", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:638", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4374" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome" xsd:anyURI {source="GARD:0000372"}

[Term]
id: MONDO:0011036
name: porencephaly-cerebellar hypoplasia-internal malformations syndrome
def: "Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed." [Orphanet:2941]
subset: gard_rare {source="GARD:4437", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2941"}
subset: ordo_malformation_syndrome {source="Orphanet:2941"}
subset: orphanet_rare {source="Orphanet:2941"}
subset: rare
synonym: "Bonnemann Meinecke syndrome" RELATED [GARD:0004437]
synonym: "Bonnemann-Meinecke syndrome" EXACT [Orphanet:2941]
synonym: "porencephaly cerebellar hypoplasia internal malformations" RELATED [GARD:0004437]
synonym: "porencephaly, cerebellar hypoplasia, and internal malformations" RELATED [OMIM:601322]
xref: GARD:4437 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2941", source="Orphanet:2941/ntbt"}
xref: MEDGEN:331296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536336 {source="MONDO:equivalentTo"}
xref: OMIM:601322 {source="MONDO:equivalentTo", source="Orphanet:2941", source="Orphanet:2941/e"}
xref: Orphanet:2941 {source="OMIM:601322", source="MONDO:equivalentTo"}
xref: SCTID:763821001 {source="MONDO:equivalentTo"}
xref: UMLS:C1832472 {source="MEDGEN:331296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder

[Term]
id: MONDO:0011037
name: renal dysplasia, cystic, susceptibility to
subset: predisposition
synonym: "CYSRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601331]
synonym: "diffuse cystic renal dysplasia" RELATED [GARD:0004658]
synonym: "renal dysplasia diffuse cystic" RELATED [GARD:0004658]
synonym: "renal dysplasia, cystic, susceptibility to" EXACT [MONDO:Lexical, OMIM:601331]
xref: DOID:0111682 {source="MONDO:equivalentTo"}
xref: MEDGEN:477529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537755 {source="MONDO:equivalentTo"}
xref: OMIM:601331 {source="MONDO:equivalentTo"}
xref: UMLS:C3275898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477529"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19351 {source="MONDO:mim2gene_medgen"} ! BICC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011038
name: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
def: "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements." [Orphanet:1171]
subset: gard_rare {source="GARD:1188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1171"}
subset: orphanet_rare {source="Orphanet:1171"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAPOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601338]
synonym: "CAPOS syndrome" EXACT [Orphanet:1171]
synonym: "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss" RELATED [GARD:0001188]
synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss" RELATED [GARD:0001188]
synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" RELATED [MONDO:Lexical, OMIM:601338]
xref: GARD:1188 {source="MONDO:GARD"}
xref: MEDGEN:318633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535351 {source="MONDO:equivalentTo"}
xref: NANDO:1200526 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:601338 {source="Orphanet:1171/e", source="MONDO:equivalentTo", source="Orphanet:1171"}
xref: Orphanet:1171 {source="MONDO:equivalentTo", source="OMIM:601338"}
xref: SCTID:720634003 {source="MONDO:equivalentTo"}
xref: UMLS:C1832466 {source="MEDGEN:318633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014720 ! autosomal dominant optic atrophy plus syndrome
is_a: MONDO:0019792 {source="Orphanet:1171"} ! autosomal dominant cerebellar ataxia type I
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:601338", source="Orphanet:1171"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 {source="MONDO:mim2gene_medgen"} ! ATP1A3

[Term]
id: MONDO:0011039
name: atrophia maculosa varioliformis cutis, familial
synonym: "AMVC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601341]
synonym: "atrophia MACULOSA VARIOLIFORMIS cutis, familial" RELATED [OMIM:601341]
synonym: "atrophia maculosa varioliformis cutis, familial" EXACT [MONDO:Lexical, OMIM:601341]
synonym: "varioliform macular atrophy of the skin" RELATED [OMIM:601341]
xref: MEDGEN:371334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563349 {source="MONDO:equivalentTo"}
xref: OMIM:601341 {source="MONDO:equivalentTo"}
xref: UMLS:C1832465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371334"}
is_a: MONDO:0003847 {source="MESH:C563349/inferred"} ! hereditary disease

[Term]
id: MONDO:0011040
name: spinal dysplasia, Anhalt type
synonym: "spinal dysplasia, Anhalt type" EXACT [OMIM:601344]
xref: MEDGEN:318632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563348 {source="MONDO:equivalentTo"}
xref: OMIM:601344 {source="MONDO:equivalentTo"}
xref: UMLS:C1832464 {source="MEDGEN:318632", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563348/inferred"} ! hereditary disease

[Term]
id: MONDO:0011041
name: ectodermal dysplasia with natal teeth, Turnpenny type
def: "Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant." [Orphanet:69083]
subset: gard_rare {source="GARD:10526", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69083"}
subset: ordo_malformation_syndrome {source="Orphanet:69083"}
subset: orphanet_rare {source="Orphanet:69083"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia with natal teeth Turnpenny type" RELATED [GARD:0010526]
synonym: "ectodermal dysplasia with natal teeth, Turnpenny type" EXACT [OMIM:601345]
synonym: "ectodermal dysplasia, hair/Tooth type" RELATED [OMIM:601345]
xref: GARD:10526 {source="MONDO:GARD"}
xref: MEDGEN:371331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563347 {source="MONDO:equivalentTo"}
xref: OMIM:601345 {source="Orphanet:69083", source="MONDO:equivalentTo", source="Orphanet:69083/e"}
xref: Orphanet:69083 {source="OMIM:601345", source="MONDO:equivalentTo"}
xref: SCTID:715576000 {source="MONDO:equivalentTo"}
xref: UMLS:C1832444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371331"}
is_a: MONDO:0019287 {source="MESH:C563347", source="Orphanet:69083"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type" xsd:anyURI {source="GARD:0010526"}

[Term]
id: MONDO:0011042
name: Martinez-Frias syndrome
synonym: "Martinez-Frias syndrome" EXACT [OMIM:601346]
synonym: "Martínez-Frías syndrome" RELATED [Orphanet:137862]
synonym: "pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula" RELATED [OMIM:601346]
xref: MEDGEN:318628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563346 {source="MONDO:equivalentTo"}
xref: OMIM:601346 {source="MONDO:equivalentTo"}
xref: Orphanet:137862 {source="MONDO:equivalentObsolete", source="OMIM:601346"}
xref: UMLS:C1832443 {source="MEDGEN:318628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011043
name: myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay
synonym: "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay" EXACT [OMIM:601347]
xref: MEDGEN:318627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563345 {source="MONDO:equivalentTo"}
xref: OMIM:601347 {source="MONDO:equivalentTo"}
xref: UMLS:C1832442 {source="MONDO:equivalentTo", source="MEDGEN:318627", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011044
name: ectrodactyly of lower limbs, congenital heart defect, and micrognathia
synonym: "ectrodactyly of lower limbs, congenital heart defect, and micrognathia" EXACT [OMIM:601348]
xref: MEDGEN:318626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563344 {source="MONDO:equivalentTo"}
xref: OMIM:601348 {source="MONDO:equivalentTo"}
xref: UMLS:C1832441 {source="MEDGEN:318626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011045
name: MMEP syndrome
def: "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." [Orphanet:3434]
subset: gard_rare {source="GARD:3693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3434"}
subset: ordo_malformation_syndrome {source="Orphanet:3434"}
subset: orphanet_rare {source="Orphanet:3434"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCOPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601349, Orphanet:3434]
synonym: "microcephaly microphthalmia ectrodactyly of lower limbs and prognathism" RELATED [GARD:0003693]
synonym: "microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism" RELATED [OMIM:601349]
synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT [Orphanet:3434]
synonym: "microphthalmia syndromic 8" RELATED [GARD:0003693]
synonym: "microphthalmia, syndromic 8" RELATED [MONDO:Lexical, OMIM:601349]
synonym: "MMEP" RELATED ABBREVIATION [GARD:0003693]
synonym: "syndromic microphthalmia type 8" EXACT [Orphanet:3434]
synonym: "Viljoen Smart syndrome" RELATED [GARD:0003693]
synonym: "Viljoen-Smart syndrome" EXACT [Orphanet:3434]
xref: DOID:0111803 {source="MONDO:equivalentTo"}
xref: GARD:3693 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3434/attributed", source="Orphanet:3434/ntbt", source="Orphanet:3434"}
xref: MEDGEN:330469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537686 {source="MONDO:equivalentTo"}
xref: OMIM:601349 {source="Orphanet:3434", source="MONDO:equivalentTo", source="Orphanet:3434/e"}
xref: Orphanet:3434 {source="MONDO:equivalentTo", source="OMIM:601349"}
xref: SCTID:715533002 {source="MONDO:equivalentTo"}
xref: UMLS:C1832440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330469"}
is_a: MONDO:0015159 {source="Orphanet:3434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016073 {source="DC-OMIM:601349", source="OMIM:601349", source="Orphanet:3434"} ! syndromic microphthalmia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3434", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011046
name: short stature, Brussels type
def: "This syndrome is characterized by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism." [Orphanet:2867]
subset: gard_rare {source="GARD:4838", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2867"}
subset: ordo_malformation_syndrome {source="Orphanet:2867"}
subset: orphanet_rare {source="Orphanet:2867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial short stature with facial dysmorphism and osteochondrodysplastic lesions" RELATED [GARD:0004838]
synonym: "Mievis Verellen-Dumoulin syndrome" RELATED [GARD:0004838]
synonym: "Mievis-Verellen-Dumoulin syndrome" EXACT [Orphanet:2867]
synonym: "short stature syndrome, Brussels type" RELATED [OMIM:601350]
xref: GARD:4838 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2867", source="Orphanet:2867/attributed", source="Orphanet:2867/ntbt"}
xref: MEDGEN:318625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537121 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"}
xref: OMIM:601350 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"}
xref: Orphanet:2867 {source="MONDO:equivalentTo", source="OMIM:601350"}
xref: SCTID:719213009 {source="MONDO:equivalentTo"}
xref: UMLS:C1832439 {source="MEDGEN:318625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="GARD:0004838"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="OMIM:601350"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:2867", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components

[Term]
id: MONDO:0011047
name: deafness-epiphyseal dysplasia-short stature syndrome
def: "This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)." [Orphanet:3218]
subset: gard_rare {source="GARD:1688", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3218"}
subset: ordo_malformation_syndrome {source="Orphanet:3218"}
subset: orphanet_rare {source="Orphanet:3218"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chitty-Hall-Baraitser syndrome" EXACT [Orphanet:3218]
synonym: "deafness, epiphyseal dysplasia, short stature" RELATED [GARD:0001688]
synonym: "deafness, femoral epiphyseal dysplasia, short stature and developmental delay" RELATED [GARD:0001688]
synonym: "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" RELATED [OMIM:601351]
xref: GARD:1688 {source="MONDO:GARD"}
xref: MEDGEN:371330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535928 {source="MONDO:equivalentTo"}
xref: OMIM:601351 {source="MONDO:equivalentTo", source="Orphanet:3218", source="Orphanet:3218/e"}
xref: Orphanet:3218 {source="MONDO:equivalentTo", source="OMIM:601351"}
xref: SCTID:716238003 {source="MONDO:equivalentTo"}
xref: UMLS:C1832438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371330"}
is_a: MONDO:0003847 {source="Orphanet:3218/inferred"} ! hereditary disease

[Term]
id: MONDO:0011048
name: epilepsy-microcephaly-skeletal dysplasia syndrome
def: "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." [Orphanet:1948]
subset: gard_rare {source="GARD:836", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1948"}
subset: ordo_malformation_syndrome {source="Orphanet:1948"}
subset: orphanet_rare {source="Orphanet:1948"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Battaglia-Neri syndrome" EXACT [Orphanet:1948]
synonym: "epilepsy - microcephaly - skeletal dysplasia" RELATED [GARD:0000836]
synonym: "intellectual disability, microcephaly, epilepsy, and coarse face" RELATED [OMIM:601352]
synonym: "mental retardation, microcephaly, epilepsy, and coarse face" RELATED DEPRECATED [OMIM:601352]
xref: GARD:836 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1948/attributed", source="Orphanet:1948/ntbt", source="Orphanet:1948"}
xref: MEDGEN:330468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537662 {source="Orphanet:1948/e", source="Orphanet:1948"}
xref: OMIM:601352 {source="Orphanet:1948/e", source="MONDO:equivalentTo", source="Orphanet:1948"}
xref: Orphanet:1948 {source="OMIM:601352", source="MONDO:equivalentTo"}
xref: UMLS:C1832437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330468"}
is_a: MONDO:0015159 {source="Orphanet:1948"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1948", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011049
name: Fine-Lubinsky syndrome
def: "A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." [Orphanet:1272]
subset: gard_rare {source="GARD:958", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1272"}
subset: ordo_malformation_syndrome {source="Orphanet:1272"}
subset: orphanet_rare {source="Orphanet:1272"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachycephaly, deafness, cataract and intellectual disability" RELATED [GARD:0000958]
synonym: "brachycephaly, deafness, cataract and mental retardation" RELATED DEPRECATED [GARD:0000958]
synonym: "brachycephaly, deafness, cataract, microstomia, and intellectual disability" RELATED [OMIM:601353]
synonym: "brachycephaly, deafness, cataract, microstomia, and mental retardation" RELATED DEPRECATED [OMIM:601353]
synonym: "brachycephaly-deafness-cataract-intellectual disability syndrome" EXACT [Orphanet:1272]
synonym: "fine-Lubinsky syndrome" EXACT [OMIM:601353]
xref: GARD:958 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1272/attributed", source="Orphanet:1272/ntbt", source="Orphanet:1272"}
xref: MEDGEN:163198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537933 {source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"}
xref: OMIM:601353 {source="Orphanet:1272/e", source="MONDO:equivalentTo", source="Orphanet:1272"}
xref: Orphanet:1272 {source="OMIM:601353", source="MONDO:equivalentTo"}
xref: SCTID:720955004 {source="MONDO:equivalentTo"}
xref: UMLS:C0795941 {source="MEDGEN:163198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1272"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1272", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome" xsd:anyURI {source="GARD:0000958"}

[Term]
id: MONDO:0011050
name: microcephaly-cardiac defect-lung malsegmentation syndrome
def: "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." [Orphanet:2516]
subset: gard_rare {source="GARD:2098", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2516"}
subset: ordo_malformation_syndrome {source="Orphanet:2516"}
subset: orphanet_rare {source="Orphanet:2516"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ellis Yale Winter syndrome" RELATED [GARD:0002098]
synonym: "Ellis-Yale-Winter syndrome" EXACT [Orphanet:2516]
synonym: "microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis" RELATED [GARD:0002098]
synonym: "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" RELATED [OMIM:601355]
xref: GARD:2098 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2516/attributed", source="Orphanet:2516/ntbt", source="Orphanet:2516"}
xref: MEDGEN:371329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563341 {source="MONDO:equivalentTo"}
xref: OMIM:601355 {source="Orphanet:2516/e", source="MONDO:equivalentTo", source="Orphanet:2516"}
xref: Orphanet:2516 {source="OMIM:601355", source="MONDO:equivalentTo"}
xref: SCTID:719379001 {source="MONDO:equivalentTo"}
xref: UMLS:C1832436 {source="MEDGEN:371329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015161 {source="Orphanet:2516"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2516", source="Orphanet:2516/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0011051
name: lethal short-limb skeletal dysplasia, Al Gazali type
subset: gard_rare {source="GARD:4827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:646136"}
subset: rare
synonym: "dysplastic cortical hyperostosis, Al-Gazali type" EXACT [Orphanet:646136]
synonym: "lethal neonatal short limb dwarfism" RELATED [GARD:0004827]
synonym: "lethal short limb skeletal dysplasia Al Gazali type" RELATED [GARD:0004827]
synonym: "lethal short-limb skeletal dysplasia, Al Gazali type" EXACT [OMIM:601356]
xref: GARD:4827 {source="MONDO:GARD"}
xref: MEDGEN:330467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537598 {source="MONDO:equivalentTo"}
xref: OMIM:601356 {source="MONDO:equivalentTo"}
xref: Orphanet:646136 {xref="MONDO:equivalentTo"}
xref: UMLS:C1832435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330467"}
is_a: MONDO:0003847 {source="MESH:C537598/inferred"} ! hereditary disease
is_a: MONDO:0016357 {source="https://orcid.org/0000-0001-5208-3432"} ! dysplastic cortical hyperostosis
is_a: MONDO:0019702 {source="PMID:31633310"} ! neonatal osteosclerotic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type" xsd:anyURI {source="GARD:0004827"}

[Term]
id: MONDO:0011052
name: amelia cleft lip palate hydrocephalus iris coloboma
synonym: "ACLH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601357]
synonym: "amelia cleft lip palate hydrocephalus iris coloboma" EXACT [MONDO:0022434]
synonym: "bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele" RELATED [GARD:0000388]
synonym: "brachial AMELIA, cleft LIP, and holoprosencephaly" RELATED [MONDO:Lexical, OMIM:601357]
synonym: "brachial amelia, forebrain defects and facial clefts" RELATED [GARD:0000388]
synonym: "brachial amelia, forebrain defects, and Facial clefts" RELATED [OMIM:601357]
xref: MEDGEN:321957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536713 {source="MONDO:equivalentTo"}
xref: OMIM:601357 {source="MONDO:equivalentTo"}
xref: UMLS:C1832434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321957"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/641/amelia-cleft-lip-palate-hydrocephalus-iris-coloboma" xsd:anyURI {source="GARD:0000641"}

[Term]
id: MONDO:0011053
name: intellectual disability-sparse hair-brachydactyly syndrome
def: "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." [Orphanet:3051]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:270", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3051"}
subset: ordo_malformation_syndrome {source="Orphanet:3051"}
subset: orphanet_rare {source="Orphanet:3051"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability-sparse hair-brachydactyly syndrome" EXACT CLINGEN_LABEL []
synonym: "NBs" RELATED [OMIM:601358]
synonym: "NCBRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601358]
synonym: "NICOLAIDES-Baraitser syndrome" RELATED [MONDO:Lexical, OMIM:601358]
synonym: "Nicolaides-Baraitser syndrome" EXACT [Orphanet:3051]
synonym: "SMARCA2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
synonym: "sparse hair and intellectual disability" RELATED [OMIM:601358]
synonym: "sparse hair and mental retardation" RELATED DEPRECATED [OMIM:601358]
xref: DOID:0081441 {source="MONDO:equivalentTo"}
xref: GARD:270 {source="MONDO:GARD"}
xref: MEDGEN:220983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536116 {source="MONDO:equivalentTo"}
xref: OMIM:601358 {source="Orphanet:3051/e", source="MONDO:equivalentTo", source="Orphanet:3051"}
xref: Orphanet:3051 {source="MONDO:equivalentTo", source="OMIM:601358"}
xref: SCTID:401046009 {source="MONDO:equivalentTo"}
xref: UMLS:C1303073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220983"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3051", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:3051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11098 {source="MONDO:mim2gene_medgen"} ! SMARCA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011054
name: autosomal recessive amelia
def: "Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents." [Orphanet:1027]
subset: gard_rare {source="GARD:16554", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1027"}
subset: ordo_malformation_syndrome {source="Orphanet:1027"}
subset: orphanet_rare {source="Orphanet:1027"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amelia, autosomal recessive" RELATED [OMIM:601360]
synonym: "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" EXACT [OMIM:601360, OMIM:genemap2]
xref: GARD:16554 {source="MONDO:GARD"}
xref: ICD10CM:Q73.0 {source="Orphanet:1027", source="Orphanet:1027/attributed", source="Orphanet:1027/ntbt"}
xref: MEDGEN:321955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563338 {source="MONDO:equivalentTo"}
xref: OMIM:601360 {source="MONDO:equivalentTo", source="Orphanet:1027", source="Orphanet:1027/e"}
xref: Orphanet:1027 {source="MONDO:equivalentTo", source="OMIM:601360"}
xref: SCTID:726735000 {source="MONDO:equivalentTo"}
xref: UMLS:C1832432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321955"}
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: disease_has_feature HP:0009827 ! Amelia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:601360", source="Orphanet:1027"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011055
name: distal monosomy 10p
def: "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13." [Orphanet:1580]
subset: gard_rare {source="GARD:1323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1580"}
subset: ordo_malformation_syndrome {source="Orphanet:1580"}
subset: orphanet_rare {source="Orphanet:1580"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "10p deletion" RELATED [GARD:0001323]
synonym: "10p monosomy" RELATED [GARD:0001323]
synonym: "10p13-p14 Deletion syndrome" EXACT [NCIT:C130982]
synonym: "chromosome 10p deletion" RELATED [GARD:0001323]
synonym: "deletion 10p" RELATED [GARD:0001323]
synonym: "Dgs2" RELATED [OMIM:601362]
synonym: "DiGeorge syndrome type 2" EXACT [NCIT:C130982]
synonym: "DiGeorge syndrome/velocardiofacial syndrome complex 2" RELATED [OMIM:601362]
synonym: "DiGeorge syndrome/velocardiofacial syndrome Complex type 2" EXACT [MONDORULE:1, OMIM:601362]
synonym: "DiGeorge syndrome/velocardiofacial syndrome complex-2" EXACT [OMIM:601362, OMIM:genemap2]
synonym: "distal 10p deletion" EXACT [Orphanet:1580]
synonym: "distal monosomy type 10p" EXACT [MONDORULE:4, Orphanet:1580]
synonym: "monosomy 10p" RELATED [GARD:0001323]
synonym: "monosomy 10pter" EXACT [Orphanet:1580]
synonym: "partial monosomy 10p" RELATED [GARD:0001323]
synonym: "telomeric deletion 10p" EXACT [Orphanet:1580]
xref: GARD:1323 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1580/attributed", source="Orphanet:1580/ntbt", source="Orphanet:1580"}
xref: MEDGEN:321954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563337 {source="MONDO:equivalentTo"}
xref: NCIT:C130982 {source="MONDO:equivalentTo"}
xref: OMIM:601362 {source="Orphanet:1580/e", source="MONDO:equivalentTo", source="Orphanet:1580"}
xref: Orphanet:1580 {source="MONDO:equivalentTo", source="OMIM:601362"}
xref: SCTID:719686003 {source="MONDO:equivalentTo"}
xref: UMLS:C1832431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321954"}
is_a: MONDO:0003847 {source="MESH:C563337/inferred", source="Orphanet:1580/inferred"} ! hereditary disease
is_a: MONDO:0016892 {source="Orphanet:1580"} ! partial deletion of the short arm of chromosome 10
relationship: disease_arises_from_structure CHR:9606-chr10p {source="https://orcid.org/0000-0002-4142-7153"} ! 10p (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011056
name: Wilms tumor 4
subset: gard_rare {source="GARD:15328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial Wilms tumor 1" RELATED [OMIM:601363]
synonym: "familial Wilms tumour 1" RELATED OMO:0003005 []
synonym: "Wilms tumor 4" EXACT [OMIM:601363]
synonym: "Wilms tumor type 4" EXACT [MONDORULE:1, OMIM:601363]
synonym: "Wilms tumor, type 4" EXACT [OMIM:601363, OMIM:genemap2]
synonym: "Wilms tumour type 4" EXACT OMO:0003005 []
synonym: "WT4" RELATED ABBREVIATION [OMIM:601363]
xref: GARD:15328 {source="MONDO:GARD"}
xref: MEDGEN:318623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563336 {source="MONDO:equivalentTo"}
xref: OMIM:601363 {source="MONDO:equivalentTo"}
xref: Orphanet:654 {source="OMIM:601363"}
xref: UMLS:C1832426 {source="MEDGEN:318623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003321 {source="MESH:C563336", source="MONDO:Redundant", source="OMIM:601363"} ! hereditary Wilms tumor
is_a: MONDO:0019004 {source="DC-OMIM:601363"} ! kidney Wilms tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011057
name: cerebrovascular disorder
def: "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." [NCIT:C2938]
subset: otar {source="MONDO:OTAR"}
synonym: "cerebral infarction" NARROW [OMIM:601367]
synonym: "cerebrovascular accident" NARROW [DOID:6713]
synonym: "cerebrovascular disease" EXACT [ISBN-13:978-1-259-64403-0, NCIT:C2938]
synonym: "cerebrovascular disorder" EXACT [DOID:6713, NCIT:C2938]
synonym: "CVA" NARROW ABBREVIATION [DOID:6713]
synonym: "CVA (cerebral vascular accident)" NARROW [DOID:6713]
synonym: "stroke" NARROW [DOID:6713]
xref: DOID:6713 {source="EFO:0003763", source="MONDO:equivalentTo"}
xref: EFO:0003763 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I60-I69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:6713", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I63.9 {source="DOID:6713"}
xref: ICD10CM:I67.9 {source="DOID:6713"}
xref: ICD9:430-438.99 {source="EFO:0003763", source="DOID:6713"}
xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:437.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:437.9 {source="MONDO:equivalentTo", source="DOID:6713", source="MONDO:i2s"}
xref: MEDGEN:858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002561 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"}
xref: MESH:D020521 {source="DOID:6713"}
xref: NCIT:C2938 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"}
xref: NCIT:C3390 {source="DOID:6713"}
xref: SCTID:155388006 {source="DOID:6713"}
xref: SCTID:155405006 {source="DOID:6713"}
xref: SCTID:155412002 {source="DOID:6713"}
xref: SCTID:195208004 {source="DOID:6713"}
xref: SCTID:195249004 {source="DOID:6713"}
xref: SCTID:195595007 {source="DOID:6713"}
xref: SCTID:230690007 {source="DOID:6713"}
xref: SCTID:266312006 {source="DOID:6713"}
xref: SCTID:266315008 {source="DOID:6713"}
xref: SCTID:270883006 {source="DOID:6713"}
xref: SCTID:313267000 {source="DOID:6713"}
xref: SCTID:62914000 {source="EFO:0003763", source="MONDO:equivalentTo", source="DOID:6713"}
xref: SCTID:82797006 {source="DOID:6713"}
xref: UMLS:C0007820 {source="MEDGEN:858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002602 {source="ISBN-13:978-1-259-64403-0"} ! central nervous system disorder
is_a: MONDO:0004995 {source="DOID:6713/inferred", source="EFO:0003763/inferred", source="ICD10CM:I60-I69", source="MESH:D002561/inferred", source="MONDO:Redundant", source="NCIT:C2938/inferred"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="DOID:6713/inferred", source="MESH:D002561", source="MONDO:Redundant", source="NCIT:C2938/inferred"} ! vascular disorder
is_a: MONDO:0005560 {source="DOID:6713", source="MESH:D002561", source="MONDO:Redundant"} ! brain disorder
relationship: disease_has_location UBERON:0008998 ! vasculature of brain
relationship: excluded_subClassOf MONDO:0000473 {source="DOID:6713", source="https://orcid.org/0000-0001-5208-3432"} ! arterial disorder

[Term]
id: MONDO:0011058
name: autosomal dominant nonsyndromic hearing loss 9
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18105", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 9" NARROW [DOID:0110593]
synonym: "autosomal dominant nonsyndromic deafness 9" NARROW [OMIM:601369]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COCH" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 9" NARROW [DOID:0110593, MONDORULE:1]
synonym: "COCH autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 9" NARROW [MONDO:Lexical, OMIM:601369, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 9" NARROW [MONDORULE:1, OMIM:601369]
synonym: "DFNA9" NARROW ABBREVIATION [DOID:0110593, MONDO:Lexical, OMIM:601369]
xref: DOID:0110593 {source="MONDO:equivalentTo"}
xref: GARD:18105 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110593"}
xref: MEDGEN:371327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563335 {source="MONDO:equivalentTo"}
xref: OMIM:601369 {source="MONDO:equivalentTo", source="DOID:0110593"}
xref: UMLS:C1832425 {source="MEDGEN:371327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:601369", source="DOID:0110593", source="MONDO:Redundant", source="OMIM:601369"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2180 ! COCH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2180 {source="MONDO:mim2gene_medgen"} ! COCH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011059
name: holoprosencephaly-craniosynostosis syndrome
def: "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features." [Orphanet:2163]
subset: gard_rare {source="GARD:2454", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2163"}
subset: ordo_malformation_syndrome {source="Orphanet:2163"}
subset: orphanet_rare {source="Orphanet:2163"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camera Lituania Cohen syndrome" RELATED [GARD:0002454]
synonym: "Camero-Lituania-Cohen syndrome" EXACT [Orphanet:2163]
synonym: "Genoa syndrome" EXACT [OMIM:601370, Orphanet:2163]
synonym: "holoprosencephaly craniosynostosis" RELATED [GARD:0002454]
synonym: "holoprosencephaly, SEMILOBAR, with craniosynostosis" RELATED [OMIM:601370]
synonym: "Semilobar holoprosencephaly and primary craniosynostosis" RELATED [GARD:0002454]
xref: GARD:2454 {source="MONDO:GARD"}
xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2163/attributed", source="Orphanet:2163/ntbt", source="Orphanet:2163"}
xref: MEDGEN:330464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537684 {source="MONDO:equivalentTo"}
xref: OMIM:601370 {source="Orphanet:2163/e", source="MONDO:equivalentTo", source="Orphanet:2163"}
xref: Orphanet:2163 {source="MONDO:equivalentTo", source="OMIM:601370"}
xref: SCTID:715434005 {source="MONDO:equivalentTo"}
xref: UMLS:C1832424 {source="MEDGEN:330464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:2163"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:11484203", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0011060
name: early-onset non-syndromic cataract
def: "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." [Orphanet:91492]
comment: Not in the OMIM series. {source="OMIM:601371"}
subset: gard_rare {source="GARD:16801", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91492"}
subset: orphanet_rare {source="Orphanet:91492"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract, age-related nuclear" RELATED [OMIM:601371]
synonym: "nuclear sclerosis of the lens" RELATED [OMIM:601371]
xref: GARD:16801 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:91492", source="Orphanet:91492/e", source="Orphanet:91492/specific"}
xref: icd11.foundation:1080602978 {source="Orphanet:91492", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:371326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601371 {source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="MONDO:equivalentTo", source="OMIM:601371"}
xref: Orphanet:98991 {source="OMIM:601371"}
xref: UMLS:C1832423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371326"}
is_a: MONDO:0005129 {source="Orphanet:91492", source="Orphanet:91492/inferred"} ! cataract
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020224"} ! rare

[Term]
id: MONDO:0011061
name: chorea, remitting, with nystagmus and cataract
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chorea, remitting with nystagmus and cataracts" RELATED [GARD:0009606]
synonym: "chorea, remitting, with nystagmus and cataract" EXACT [OMIM:601372]
synonym: "familial remitting chorea, nystagmus and cataracts" RELATED [GARD:0009606]
xref: MEDGEN:330463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535355 {source="MONDO:equivalentTo"}
xref: OMIM:601372 {source="MONDO:equivalentTo"}
xref: UMLS:C1832422 {source="MONDO:equivalentTo", source="MEDGEN:330463", source="MONDO:MEDGEN"}
is_a: MONDO:0001595 {source="DC-OMIM:601372"} ! choreatic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011062
name: aprosencephaly cerebellar dysgenesis
subset: gard_rare {source="GARD:4518", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1126"}
subset: ordo_malformation_syndrome {source="Orphanet:1126"}
subset: orphanet_rare {source="Orphanet:1126"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aprosencephaly and cerebellar dysgenesis" RELATED [OMIM:601374]
xref: GARD:4518 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:1126", source="Orphanet:1126/attributed", source="Orphanet:1126/ntbt"}
xref: MEDGEN:330459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563331 {source="MONDO:equivalentTo"}
xref: OMIM:601374 {source="MONDO:equivalentTo", source="Orphanet:1126", source="Orphanet:1126/e"}
xref: Orphanet:1126 {source="OMIM:601374", source="MONDO:equivalentTo"}
xref: UMLS:C1832412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330459"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0011063
name: hidrotic ectodermal dysplasia, Christianson-Fourie type
def: "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." [Orphanet:1808]
subset: gard_rare {source="GARD:2682", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1808"}
subset: ordo_malformation_syndrome {source="Orphanet:1808"}
subset: orphanet_rare {source="Orphanet:1808"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Christianson-Fourie syndrome" EXACT [Orphanet:1808]
synonym: "ectodermal dysplasia, hidrotic, Christianson-Fourie type" RELATED [OMIM:601375]
xref: GARD:2682 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1808", source="Orphanet:1808/attributed", source="Orphanet:1808/ntbt"}
xref: MEDGEN:371322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536180 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"}
xref: OMIM:601375 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"}
xref: Orphanet:1808 {source="OMIM:601375", source="MONDO:equivalentTo"}
xref: UMLS:C1832411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371322"}
is_a: MONDO:0019287 {source="MESH:C536180", source="Orphanet:1808"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type" xsd:anyURI {source="GARD:0002682"}

[Term]
id: MONDO:0011064
name: lethal chondrodysplasia, Seller type
subset: gard_rare {source="GARD:3226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:1421"}
subset: rare
synonym: "chondrodysplasia, lethal, with long bone angulation and mixed bone density" RELATED [OMIM:601376]
synonym: "lethal chondrodysplasia seller type" RELATED [GARD:0003226]
xref: GARD:3226 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:1421/attributed", source="Orphanet:1421/ntbt", source="Orphanet:1421"}
xref: MEDGEN:318622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563330 {source="MONDO:equivalentTo"}
xref: OMIM:601376 {source="Orphanet:1421", source="MONDO:equivalentTo", source="Orphanet:1421/e"}
xref: Orphanet:1421 {source="OMIM:601376", source="MONDO:equivalentObsolete"}
xref: UMLS:C1832410 {source="MEDGEN:318622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005516 {source="PMID:8818449", source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="PMID:8818449", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type" xsd:anyURI {source="GARD:0003226"}

[Term]
id: MONDO:0011065
name: Hunter-McAlpine craniosynostosis
def: "Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)." [Orphanet:97340]
subset: gard_rare {source="GARD:2754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97340"}
subset: ordo_malformation_syndrome {source="Orphanet:97340"}
subset: orphanet_rare {source="Orphanet:97340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature" RELATED [GARD:0002754]
synonym: "Hunter-McAlpine craniosynostosis syndrome" RELATED [OMIM:601379]
synonym: "Hunter-McAlpine syndrome" RELATED [GARD:0002754]
xref: GARD:2754 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:97340/attributed", source="Orphanet:97340/ntbt", source="Orphanet:97340"}
xref: MEDGEN:321949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536072 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"}
xref: OMIM:601379 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"}
xref: Orphanet:97340 {source="OMIM:601379", source="MONDO:equivalentTo"}
xref: SCTID:721227001 {source="MONDO:equivalentTo"}
xref: UMLS:C1832408 {source="MEDGEN:321949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:97340"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID: 8723067", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0011066
name: Charcot-Marie-Tooth disease type 4B1
def: "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)." [Orphanet:99955]
subset: gard_rare {source="GARD:1253", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99955"}
subset: orphanet_rare {source="Orphanet:99955"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [DOID:0110191]
synonym: "Charcot Marie Tooth disease type 4B1" RELATED [GARD:0001253]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 4B1" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1" RELATED [OMIM:601382]
synonym: "Charcot-Marie-Tooth disease, type 4B" RELATED [OMIM:601382]
synonym: "Charcot-Marie-Tooth disease, type 4B1" RELATED [MONDO:Lexical, OMIM:601382]
synonym: "Charcot-Marie-Tooth neuropathy type 4B1" EXACT [DOID:0110191]
synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" RELATED [OMIM:601382]
synonym: "CMT 4B" RELATED [GARD:0001253]
synonym: "CMT 4B1" RELATED [GARD:0001253]
synonym: "CMT4B1" EXACT ABBREVIATION [DOID:0110191, MONDO:Lexical, OMIM:601382, Orphanet:99955]
synonym: "MTMR2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110191 {source="MONDO:equivalentTo"}
xref: GARD:1253 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99955/attributed", source="Orphanet:99955/ntbt", source="Orphanet:99955", source="DOID:0110191"}
xref: MEDGEN:321947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535420 {source="Orphanet:99955", source="MONDO:equivalentTo", source="Orphanet:99955/e"}
xref: OMIM:601382 {source="Orphanet:99955", source="DOID:0110191", source="MONDO:equivalentTo", source="Orphanet:99955/e"}
xref: Orphanet:99955 {source="DOID:0110191", source="MONDO:equivalentTo", source="OMIM:601382"}
xref: SCTID:715803003 {source="MONDO:equivalentTo"}
xref: UMLS:C1832399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321947"}
is_a: MONDO:0015626 {source="DOID:0110191/inferred", source="MESH:C535420", source="MONDO:Redundant", source="OMIM:601382", source="Orphanet:99955/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110191", source="MONDO:Redundant", source="Orphanet:99955"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7450 ! MTMR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7450 {source="MONDO:mim2gene_medgen"} ! MTMR2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1" xsd:anyURI {source="GARD:0001253"}

[Term]
id: MONDO:0011067
name: autosomal recessive nonsyndromic hearing loss 12
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22." [DOID:0110467, PMID:11090341]
subset: gard_rare {source="GARD:22590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 12" NARROW [DOID:0110467]
synonym: "autosomal recessive nonsyndromic deafness 12" NARROW [OMIM:601386]
synonym: "autosomal recessive nonsyndromic deafness type 12" NARROW [DOID:0110467, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 12" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 12" NARROW [MONDO:Lexical, OMIM:601386, OMIM:genemap2]
synonym: "deafness, autosomal recessive 12, modifier of" NARROW [OMIM:601386, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 12" NARROW [MONDORULE:2, OMIM:601386]
synonym: "DFNB12" NARROW ABBREVIATION [DOID:0110467, MONDO:Lexical, OMIM:601386]
xref: DOID:0110467 {source="MONDO:equivalentTo"}
xref: GARD:22590 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110467"}
xref: MEDGEN:330455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563327 {source="MONDO:equivalentTo"}
xref: OMIM:601386 {source="DOID:0110467", source="MONDO:equivalentTo"}
xref: UMLS:C1832394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330455"}
is_a: MONDO:0019588 {source="DC-OMIM:601386", source="DOID:0110467", source="MONDO:Redundant", source="OMIM:601386"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13733 ! CDH23
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/815 ! ATP2B2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011068
name: type 1 diabetes mellitus 12
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "CTLA4 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, insulin-dependent, 12" RELATED [MONDO:Lexical, OMIM:601388]
synonym: "diabetes mellitus, insulin-dependent, type 12" EXACT [MONDORULE:2, OMIM:601388]
synonym: "IDDM12" EXACT ABBREVIATION [DOID:0110751, MONDO:Lexical, OMIM:601388]
synonym: "insulin-dependent diabetes mellitus 12" EXACT [DOID:0110751, OMIM:601388]
synonym: "type 1 diabetes mellitus caused by mutation in CTLA4" EXACT [MONDO:design_pattern]
xref: DOID:0110751 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110751"}
xref: MEDGEN:318618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563326 {source="MONDO:equivalentTo"}
xref: OMIM:601388 {source="MONDO:equivalentTo", source="DOID:0110751"}
xref: UMLS:C1832392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318618"}
is_a: MONDO:0020573 {source="OMIM:601388"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 ! CTLA4
intersection_of: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:601388", source="DOID:0110751", source="MESH:C563326", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 {source="MONDO:mim2gene_medgen"} ! CTLA4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0011069
name: cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
synonym: "cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction" EXACT [OMIM:601389]
synonym: "cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction" RELATED [GARD:0001227]
synonym: "Frydman Cohen Ashkenazi syndrome" RELATED [GARD:0001227]
xref: MEDGEN:318617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538072 {source="MONDO:equivalentTo"}
xref: OMIM:601389 {source="MONDO:equivalentTo"}
xref: UMLS:C1832391 {source="MEDGEN:318617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1227/cervical-ribs-sprengel-anomaly-anal-atresia-and-urethral-obstruction" xsd:anyURI {source="GARD:0001227"}

[Term]
id: MONDO:0011070
name: van Maldergem syndrome 1
def: "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cerebrofacioarticular syndrome" RELATED [OMIM:601390]
synonym: "DCHS1 van Maldergem syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "VAN Maldergem syndrome 1" RELATED [OMIM:601390]
synonym: "van Maldergem syndrome 1" EXACT [MONDO:Lexical, OMIM:601390]
synonym: "van Maldergem syndrome caused by mutation in DCHS1" EXACT [MONDO:design_pattern]
synonym: "Van Maldergem syndrome type 1" EXACT [MONDORULE:1, OMIM:601390]
synonym: "VMLDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601390]
xref: DOID:0080585 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601390 {source="MONDO:equivalentTo"}
xref: Orphanet:314679 {source="OMIM:601390"}
xref: UMLS:C4551950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644627"}
is_a: MONDO:0017813 {source="DC-OMIM:601390", source="MONDO:Redundant", source="OMIM:601390"} ! van Maldergem syndrome
intersection_of: MONDO:0017813 ! van Maldergem syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13681 ! DCHS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13681 {source="MONDO:mim2gene_medgen"} ! DCHS1

[Term]
id: MONDO:0011071
name: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
def: "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." [https://clinicalgenome.org/affiliation/50034/, PMID:28600339]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10352", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71290"}
subset: orphanet_rare {source="Orphanet:71290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asprin-like platelet disorder" RELATED EXCLUDE [GARD:0010352]
synonym: "familial platelet disorder with associated myeloid malignancy" RELATED EXCLUDE [Orphanet:71290]
synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" RELATED OMO:0003005 []
synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" RELATED EXCLUDE [Orphanet:71290]
synonym: "familial thrombocytopenia with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 []
synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED EXCLUDE [GARD:0010352]
synonym: "FPD/AML syndrome" RELATED EXCLUDE [Orphanet:71290]
synonym: "FPDMM" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399]
synonym: "FPS/AML syndrome" RELATED EXCLUDE [Orphanet:71290]
synonym: "hereditary thrombocytopenia and hematologic cancer predisposition syndrome" EXACT CLINGEN_LABEL []
synonym: "platelet disorder, aspirin-like" RELATED EXCLUDE [OMIM:601399]
synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399]
synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 []
synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED EXCLUDE [OMIM:601399]
xref: GARD:10352 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="Orphanet:71290", source="Orphanet:71290/attributed", source="Orphanet:71290/ntbt"}
xref: MESH:C563324 {source="MONDO:equivalentTo"}
xref: Orphanet:71290 {source="OMIM:601399", source="MONDO:equivalentTo"}
xref: SCTID:725034002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015356 {source="Orphanet:71290"} ! hereditary neoplastic syndrome
is_a: MONDO:0021181 {source="MESH:C563324", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited blood coagulation disorder

[Term]
id: MONDO:0011072
name: diabetes mellitus, noninsulin-dependent, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diabetes mellitus, noninsulin-dependent, 2" EXACT [MONDO:Lexical, OMIM:601407]
synonym: "NIDDM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601407]
synonym: "noninsulin-dependent diabetes mellitus 2" RELATED [OMIM:601407]
xref: MEDGEN:321944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563323 {source="MONDO:equivalentTo"}
xref: OMIM:601407 {source="MONDO:equivalentTo"}
xref: UMLS:C1832387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321944"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005148 {source="DC-OMIM:601407", source="MESH:C563323"} ! type 2 diabetes mellitus

[Term]
id: MONDO:0011073
name: diabetes mellitus, transient neonatal, 1
subset: gard_rare {source="GARD:1839", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99886"}
subset: orphanet_rare {source="Orphanet:99886"}
subset: rare
synonym: "diabetes mellitus, transient neonatal 1" EXACT [OMIM:601410, OMIM:genemap2]
synonym: "diabetes mellitus, transient neonatal, 1" EXACT [OMIM:601410]
synonym: "diabetes mellitus, transient neonatal, type 1" EXACT [MONDORULE:1, OMIM:601410]
synonym: "Dmtn" RELATED [OMIM:601410]
synonym: "Tndm" RELATED [OMIM:601410]
synonym: "Tndm1" RELATED [OMIM:601410]
xref: GARD:1839 {source="MONDO:GARD"}
xref: MEDGEN:371317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563322 {source="MONDO:equivalentTo"}
xref: OMIM:601410 {source="MONDO:equivalentTo"}
xref: Orphanet:99886 {source="OMIM:601410", source="MONDO:equivalentTo"}
xref: SCTID:609579009 {source="MONDO:equivalentTo"}
xref: UMLS:C1832386 {source="MEDGEN:371317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020525 {source="DC-OMIM:601410"} ! transient neonatal diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011074
name: autosomal dominant nonsyndromic hearing loss 7
def: "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23." [DOID:0110591, PMID:8842739]
subset: gard_rare {source="GARD:18106", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant deafness 7" NARROW [DOID:0110591]
synonym: "autosomal dominant nonsyndromic deafness 7" NARROW [OMIM:601412]
synonym: "autosomal dominant nonsyndromic deafness type 7" NARROW [DOID:0110591, MONDORULE:1]
synonym: "deafness, autosomal dominant 7" NARROW [MONDO:Lexical, OMIM:601412, OMIM:genemap2]
synonym: "DFNA7" NARROW ABBREVIATION [DOID:0110591, MONDO:Lexical, OMIM:601412]
xref: DOID:0110591 {source="MONDO:equivalentTo"}
xref: GARD:18106 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110591"}
xref: MEDGEN:318614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563321 {source="MONDO:equivalentTo"}
xref: OMIM:601412 {source="MONDO:equivalentTo", source="DOID:0110591"}
xref: UMLS:C1832379 {source="MEDGEN:318614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:601412", source="DOID:0110591", source="OMIM:601412"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011075
name: retinitis pigmentosa 18
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PRPF3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 18" EXACT [MONDO:Lexical, OMIM:601414]
synonym: "retinitis pigmentosa caused by mutation in PRPF3" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 18" EXACT [DOID:0110356, MONDORULE:2, OMIM:601414]
synonym: "RP 18" RELATED [GARD:0010392]
synonym: "RP18" EXACT ABBREVIATION [DOID:0110356, MONDO:Lexical, OMIM:601414]
xref: DOID:0110356 {source="MONDO:equivalentTo"}
xref: GARD:10392 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110356"}
xref: MEDGEN:371314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563320 {source="MONDO:equivalentTo"}
xref: OMIM:601414 {source="MONDO:equivalentTo", source="DOID:0110356"}
xref: UMLS:C1832378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371314"}
is_a: MONDO:0019200 {source="DC-OMIM:601414", source="DOID:0110356", source="MESH:C563320", source="MONDO:Redundant", source="OMIM:601414"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17348 ! PRPF3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17348 {source="MONDO:mim2gene_medgen"} ! PRPF3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18" xsd:anyURI {source="GARD:0010392"}

[Term]
id: MONDO:0011076
name: myofibrillar myopathy 1
def: "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." [https://orcid.org/0000-0001-5208-3432, Orphanet:98909]
subset: gard_rare {source="GARD:16870", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98909"}
subset: orphanet_rare {source="Orphanet:98909"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 7" RELATED [OMIM:601419]
synonym: "arrhythmogenic right ventricular cardiomyopathy 7, formerly" RELATED [OMIM:601419]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 7" RELATED [OMIM:601419]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 7, formerly" RELATED [OMIM:601419]
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" RELATED EXCLUDE [DOID:0110286, Orphanet:363543]
synonym: "autosomal recessive limb-girdle muscular dystrophy type 2R" EXACT [MONDO:0014129]
synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D" RELATED [OMIM:601419]
synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly" RELATED [OMIM:601419]
synonym: "cardiomyopathy, dilated, with conduction defect and muscular dystrophy" RELATED [OMIM:601419]
synonym: "CMD1F and LGMD1D" RELATED DEPRECATED [OMIM:601419]
synonym: "CMD1F and LGMD1D, formerly" RELATED [OMIM:601419]
synonym: "DES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DES myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "desmin-related myofibrillar myopathy" EXACT [Orphanet:98909]
synonym: "desmin-related myopathy" RELATED [OMIM:601419]
synonym: "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [OMIM:601419]
synonym: "desminopathy" EXACT [DOID:0080092]
synonym: "desminopathy, primary" RELATED [OMIM:601419]
synonym: "IBM1" RELATED DEPRECATED [Wikipedia:Hereditary_inclusion_body_myopathy]
synonym: "inclusion body myopathy 1, autosomal dominant" RELATED [OMIM:601419]
synonym: "inclusion body myopathy 1, autosomal dominant, formerly" RELATED [OMIM:601419]
synonym: "LGMD2R" RELATED EXCLUDE [DOID:0110286, MONDO:Lexical, OMIM:615325, Orphanet:363543]
synonym: "MFM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601419]
synonym: "muscular dystrophy, limb-girdle, type 2R" RELATED EXCLUDE [DOID:0110286, MONDO:Lexical, OMIM:615325]
synonym: "myofibrillar myopathy (disease) caused by mutation in DES" EXACT []
synonym: "myofibrillar myopathy 1" EXACT CLINGEN_LABEL []
synonym: "myofibrillar myopathy type 1" EXACT [DOID:0080092, MONDORULE:1]
synonym: "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [OMIM:601419]
synonym: "myopathy, myofibrillar, 1" RELATED [MONDO:Lexical, OMIM:601419]
synonym: "myopathy, myofibrillar, desmin-related" RELATED [OMIM:601419]
synonym: "myopathy, myofibrillar, type 1" EXACT [MONDORULE:1, OMIM:601419]
xref: DOID:0080092 {source="MONDO:equivalentTo"}
xref: DOID:0110286 {source="MONDO:equivalentObsolete"}
xref: GARD:16870 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:363543", source="DOID:0110286", source="Orphanet:363543/attributed", source="Orphanet:363543/ntbt"}
xref: ICD10CM:G71.8 {source="Orphanet:98909/attributed", source="Orphanet:98909/ntbt", source="Orphanet:98909"}
xref: MEDGEN:330449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601419 {source="Orphanet:98909/e", source="MONDO:equivalentTo", source="DOID:0080092", source="Orphanet:98909"}
xref: OMIM:615325 {source="MONDO:equivalentObsolete", source="Orphanet:363543", source="DOID:0110286", source="Orphanet:363543/e"}
xref: Orphanet:363543 {source="OMIM:615325", source="MONDO:equivalentObsolete", source="DOID:0110286"}
xref: Orphanet:98909 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:601419"}
xref: UMLS:C1832370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330449"}
is_a: MONDO:0016187 ! qualitative or quantitative defects of desmin
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:601419", source="Orphanet:98909"} ! myofibrillar myopathy
is_a: MONDO:0019056 ! neuromuscular disease
intersection_of: MONDO:0018943 ! myofibrillar myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 ! DES
relationship: excluded_subClassOf MONDO:0005336 {source="DOID:0080092", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
relationship: excluded_subClassOf MONDO:0015152 {source="DOID:0110286", source="OMIM:615325", source="Orphanet:363543", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive limb-girdle muscular dystrophy
relationship: excluded_subClassOf MONDO:0016108 {source="Orphanet:98909", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant distal myopathy
relationship: excluded_subClassOf MONDO:0016112 {source="Orphanet:98909", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary inclusion-body myopathy
relationship: excluded_subClassOf MONDO:0016187 {source="Orphanet:363543", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of desmin
relationship: excluded_subClassOf MONDO:0016340 {source="Orphanet:98909", source="https://orcid.org/0000-0001-5208-3432"} ! familial restrictive cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 {source="MONDO:mim2gene_medgen"} ! DES
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4370" xsd:anyURI

[Term]
id: MONDO:0011077
name: microcephaly, corpus callosum dysgenesis, and cleft lip/palate
synonym: "corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation" RELATED [GARD:0003614]
synonym: "microcephaly, corpus callosum dysgenesis and cleft lip-palate" RELATED [GARD:0003614]
synonym: "microcephaly, corpus callosum dysgenesis, and cleft lip/palate" EXACT [OMIM:601420]
synonym: "microcephaly, facial clefting, and preaxial polydactyly" RELATED [GARD:0003614]
xref: MEDGEN:330448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537547 {source="MONDO:equivalentTo"}
xref: OMIM:601420 {source="MONDO:equivalentTo"}
xref: UMLS:C1832369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330448"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate" xsd:anyURI {source="GARD:0003614"}

[Term]
id: MONDO:0011078
name: anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
def: "A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995." [Orphanet:2321]
subset: gard_rare {source="GARD:3062", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2321"}
subset: orphanet_rare {source="Orphanet:2321"}
subset: rare
synonym: "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" EXACT [OMIM:601427]
synonym: "Jung Wolff back Stahl syndrome" RELATED [GARD:0003062]
xref: GARD:3062 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2321", source="MONDO:mondoSubClassOfSource"}
xref: MEDGEN:316973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537694 {source="Orphanet:2321", source="MONDO:equivalentTo"}
xref: OMIM:601427 {source="Orphanet:2321", source="MONDO:equivalentTo"}
xref: Orphanet:2321 {source="MONDO:equivalentTo", source="OMIM:601427"}
xref: UMLS:C1832362 {source="MEDGEN:316973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011079
name: rhizomelic dysplasia, Patterson-Lowry type
def: "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." [Orphanet:2831]
subset: gard_rare {source="GARD:4703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2831"}
subset: ordo_malformation_syndrome {source="Orphanet:2831"}
subset: orphanet_rare {source="Orphanet:2831"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Patterson Lowry syndrome" RELATED [GARD:0004703]
synonym: "Patterson-Lowry rhizomelic dysplasia" RELATED [GARD:0004703]
synonym: "rhizomelic dysplasia Patterson Lowry type" RELATED [GARD:0004703]
synonym: "rhizomelic dysplasia, Patterson-Lowry type" EXACT [OMIM:601438]
xref: GARD:4703 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:2831", source="Orphanet:2831/attributed", source="Orphanet:2831/ntbt"}
xref: MEDGEN:321940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537609 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"}
xref: OMIM:601438 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"}
xref: Orphanet:2831 {source="MONDO:equivalentTo", source="OMIM:601438"}
xref: SCTID:715505002 {source="MONDO:equivalentTo"}
xref: UMLS:C1832359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321940"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:25037730", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type" xsd:anyURI {source="GARD:0004703"}

[Term]
id: MONDO:0011080
name: progressive deafness with stapes fixation
def: "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)." [Orphanet:3235]
subset: gard_rare {source="GARD:5170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3235"}
subset: ordo_malformation_syndrome {source="Orphanet:3235"}
subset: orphanet_rare {source="Orphanet:3235"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, progressive, with stapes fixation" RELATED [OMIM:601449]
synonym: "Stapedo-vestibular ankylosis" EXACT [Orphanet:3235]
synonym: "Thies Reis syndrome" RELATED [GARD:0005170]
synonym: "Thies-Reis syndrome" EXACT [Orphanet:3235]
xref: GARD:5170 {source="MONDO:GARD"}
xref: ICD10CM:H74.3 {source="Orphanet:3235", source="Orphanet:3235/attributed", source="Orphanet:3235/ntbt"}
xref: icd11.foundation:1909954882 {source="Orphanet:3235", source="MONDO:equivalentTo"}
xref: MEDGEN:330446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563316 {source="MONDO:equivalentTo"}
xref: OMIM:601449 {source="Orphanet:3235", source="MONDO:equivalentTo", source="Orphanet:3235/e"}
xref: Orphanet:3235 {source="MONDO:equivalentTo", source="OMIM:601449"}
xref: SCTID:715529009 {source="MONDO:equivalentTo"}
xref: UMLS:C1832354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330446"}
is_a: MONDO:0003847 {source="Orphanet:3235/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation" xsd:anyURI {source="GARD:0005170"}

[Term]
id: MONDO:0011081
name: dislocation of the hip-dysmorphism syndrome
def: "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." [Orphanet:2412]
subset: gard_rare {source="GARD:1428", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2412"}
subset: ordo_malformation_syndrome {source="Orphanet:2412"}
subset: orphanet_rare {source="Orphanet:2412"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Collins Pope syndrome" RELATED [GARD:0001428]
synonym: "Collins-Pope syndrome" EXACT [Orphanet:2412]
synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism" RELATED [OMIM:601450]
synonym: "dislocation of the hip dysmorphism" RELATED [GARD:0001428]
synonym: "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" RELATED [OMIM:601450]
xref: GARD:1428 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2412/attributed", source="Orphanet:2412/ntbt", source="Orphanet:2412"}
xref: MEDGEN:316970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563315 {source="MONDO:equivalentTo"}
xref: OMIM:601450 {source="Orphanet:2412", source="MONDO:equivalentTo", source="Orphanet:2412/e"}
xref: Orphanet:2412 {source="MONDO:equivalentTo", source="GARD:0001428", source="OMIM:601450"}
xref: SCTID:763755009 {source="MONDO:equivalentTo"}
xref: UMLS:C1832353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:316970"}
is_a: MONDO:0015161 {source="Orphanet:2412"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2412", source="Orphanet:2412/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome" xsd:anyURI {source="GARD:0001428"}

[Term]
id: MONDO:0011082
name: oculoauriculofrontonasal syndrome
subset: gard_rare {source="GARD:4031", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398156"}
subset: ordo_malformation_syndrome {source="Orphanet:398156"}
subset: orphanet_rare {source="Orphanet:398156"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OAFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601452, Orphanet:398156]
synonym: "oculoauriculofrontonasal dysplasia" RELATED [OMIM:601452]
synonym: "OCULOAURICULOFRONTONASAL syndrome" RELATED [OMIM:601452]
synonym: "oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452]
xref: GARD:4031 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:398156/attributed", source="Orphanet:398156/ntbt", source="Orphanet:398156"}
xref: MEDGEN:316969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537865 {source="MONDO:equivalentTo"}
xref: OMIM:601452 {source="Orphanet:398156", source="MONDO:equivalentTo", source="Orphanet:398156/e"}
xref: Orphanet:398156 {source="OMIM:601452", source="MONDO:equivalentTo"}
xref: UMLS:C1832352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:316969"}
is_a: MONDO:0016643 {source="Orphanet:398156"} ! frontonasal dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome" xsd:anyURI {source="GARD:0004031"}

[Term]
id: MONDO:0011083
name: trichodental syndrome
def: "Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant." [Orphanet:3351]
subset: gard_rare {source="GARD:265", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3351"}
subset: ordo_malformation_syndrome {source="Orphanet:3351"}
subset: orphanet_rare {source="Orphanet:3351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "kersey syndrome" EXACT [Orphanet:3351]
synonym: "Tricho-dental dysplasia" RELATED [GARD:0000265]
synonym: "Tricho-dental syndrome" RELATED [GARD:0000265]
synonym: "TRICHODENTAL dysplasia" RELATED [OMIM:601453]
xref: GARD:265 {source="MONDO:GARD"}
xref: MEDGEN:96068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536551 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"}
xref: OMIM:601453 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"}
xref: Orphanet:3351 {source="OMIM:601453", source="MONDO:equivalentTo"}
xref: SCTID:277810000 {source="MONDO:equivalentTo"}
xref: UMLS:C0406724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96068"}
is_a: MONDO:0019287 {source="MESH:C536551", source="Orphanet:3351"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome" xsd:anyURI {source="GARD:0000265"}

[Term]
id: MONDO:0011084
name: psoriasis 3, susceptibility to
synonym: "psoriasis 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:601454]
synonym: "psoriasis susceptibility 3" EXACT [OMIM:601454, OMIM:genemap2]
synonym: "PSORS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601454]
xref: DOID:0111283 {source="MONDO:equivalentTo"}
xref: MEDGEN:316964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601454 {source="MONDO:equivalentTo"}
xref: UMLS:C1832345 {source="MEDGEN:316964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:601454"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:601454", source="OMIM:601454"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011085
name: Charcot-Marie-Tooth disease type 4D
def: "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported." [Orphanet:99950]
subset: gard_rare {source="GARD:3973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99950"}
subset: orphanet_rare {source="Orphanet:99950"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D" EXACT [DOID:0110186]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 4D" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D" RELATED [OMIM:601455]
synonym: "Charcot-Marie-Tooth disease, type 4D" RELATED [GARD:0003973, MONDO:Lexical, OMIM:601455]
synonym: "Charcot-Marie-Tooth neuropathy type 4D" EXACT [DOID:0110186]
synonym: "Charcot-Marie-Tooth neuropathy, type 4D" RELATED [OMIM:601455]
synonym: "CMT4D" EXACT ABBREVIATION [DOID:0110186, MONDO:Lexical, OMIM:601455, Orphanet:99950]
synonym: "hereditary motor ABD sensory neuropathy Lom type" EXACT [DOID:0110186]
synonym: "hereditary motor and sensory neuropathy, Lom type" EXACT [Orphanet:99950]
synonym: "HMSN Lom type" EXACT [DOID:0110186]
synonym: "HMSN, Lom type" EXACT [Orphanet:99950]
synonym: "HMSN-Lom" EXACT [DOID:0110186, Orphanet:99950]
synonym: "HMSN4D" EXACT ABBREVIATION [DOID:0110186, OMIM:601455]
synonym: "HMSNL" EXACT ABBREVIATION [DOID:0110186]
synonym: "NDRG1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuropathy, hereditary motor and sensory, Lom type" RELATED [OMIM:601455]
synonym: "NMSL" RELATED ABBREVIATION [GARD:0003973]
xref: DOID:0110186 {source="MONDO:equivalentTo"}
xref: GARD:3973 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99950", source="Orphanet:99950/attributed", source="Orphanet:99950/ntbt", source="DOID:0110186"}
xref: MEDGEN:371304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535716 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e"}
xref: OMIM:601455 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e", source="DOID:0110186"}
xref: Orphanet:99950 {source="OMIM:601455", source="MONDO:equivalentTo", source="DOID:0110186"}
xref: SCTID:715798007 {source="MONDO:equivalentTo"}
xref: UMLS:C1832334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371304"}
is_a: MONDO:0015626 {source="DOID:0110186/inferred", source="MESH:C535716", source="MONDO:Redundant", source="OMIM:601455", source="Orphanet:99950/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110186", source="MONDO:Redundant", source="Orphanet:99950"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7679 ! NDRG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7679 {source="MONDO:mim2gene_medgen"} ! NDRG1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d" xsd:anyURI {source="GARD:0003973"}

[Term]
id: MONDO:0011086
name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
def: "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." [Orphanet:331206]
subset: gard_rare {source="GARD:10339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:331206"}
subset: orphanet_rare {source="Orphanet:331206"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCID due to complete RAG1-2 deficiency" EXACT [DOID:0090013]
synonym: "SCID due to complete RAG1/2 deficiency" EXACT [Orphanet:331206]
synonym: "SCID, AR, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339]
synonym: "SCID, T cell-negative, B cell-negative, NK cell-positive" RELATED [OMIM:601457]
synonym: "severe combined immunodeficiency due to complete RAG1-2 deficiency" EXACT [DOID:0090013]
synonym: "severe combined immunodeficiency due to complete RAG1/2 deficiency" RELATED [Orphanet:331206]
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" EXACT [OMIM:601457]
synonym: "severe combined immunodeficiency, B cell-negative" EXACT [OMIM:601457, OMIM:genemap2]
synonym: "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339]
xref: DOID:0090013 {source="MONDO:equivalentTo"}
xref: GARD:10339 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="DOID:0090013", source="Orphanet:331206", source="Orphanet:331206/attributed", source="Orphanet:331206/ntbt"}
xref: MEDGEN:321935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563311 {source="MONDO:equivalentTo"}
xref: OMIM:601457 {source="MONDO:equivalentTo", source="DOID:0090013", source="Orphanet:331206", source="Orphanet:331206/e"}
xref: Orphanet:331206 {source="MONDO:equivalentTo", source="DOID:0090013", source="OMIM:601457"}
xref: UMLS:C1832322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321935"}
is_a: MONDO:0017855 {source="Orphanet:331206", source="PMID:3195371"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0031520 {source="DOID:0090013", source="MONDO:Redundant", source="OMIM:601457", source="Orphanet:331206/inferred"} ! familial severe combined immunodeficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011087
name: inflammatory bowel disease 2
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1." [DOID:0110900, PMID:8841195]
synonym: "IBD2" EXACT ABBREVIATION [DOID:0110900, MONDO:Lexical, OMIM:601458]
synonym: "inflammatory bowel disease 2" EXACT [MONDO:Lexical, OMIM:601458]
synonym: "inflammatory bowel disease type 2" EXACT [DOID:0110900, MONDORULE:1]
xref: DOID:0110900 {source="MONDO:equivalentTo"}
xref: MEDGEN:321934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563310 {source="MONDO:equivalentTo"}
xref: OMIM:601458 {source="DOID:0110900", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:601458"}
xref: Orphanet:771 {source="OMIM:601458"}
xref: UMLS:C1832321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321934"}
is_a: MONDO:0005265 {source="DC-OMIM:601458", source="DOID:0110900", source="MESH:C563310", source="OMIM:601458"} ! inflammatory bowel disease

[Term]
id: MONDO:0011088
name: congenital myasthenic syndrome 1A
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15330", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHRNA1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS IIa" EXACT [DOID:0110663]
synonym: "Cms IIa" RELATED [OMIM:601462]
synonym: "Cms IIa, formerly" RELATED [OMIM:601462]
synonym: "CMS1A" EXACT ABBREVIATION [DOID:0110663, MONDO:Lexical, OMIM:601462]
synonym: "CMS2A" RELATED EXCLUDE [DOID:0110663]
synonym: "congenital myasthenic syndrome 1A, slow-channel" EXACT [DOID:0110663]
synonym: "congenital myasthenic syndrome caused by mutation in CHRNA1" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 1A" EXACT [DOID:0110663, MONDORULE:4]
synonym: "congenital myasthenic syndrome type IIa" EXACT [DOID:0110663]
synonym: "myasthenic syndrome, congenital, 1A, slow-channel" RELATED [MONDO:Lexical, OMIM:601462]
synonym: "myasthenic syndrome, congenital, type IIa" RELATED [OMIM:601462]
synonym: "myasthenic syndrome, congenital, type IIa, formerly" RELATED [OMIM:601462]
xref: DOID:0110663 {source="MONDO:equivalentTo"}
xref: GARD:15330 {source="MONDO:GARD"}
xref: MEDGEN:419336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601462 {source="MONDO:equivalentTo", source="DOID:0110663"}
xref: Orphanet:590 {source="OMIM:601462"}
xref: Orphanet:98913 {source="OMIM:601462"}
xref: UMLS:C2931107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419336"}
is_a: MONDO:0018940 {source="DOID:0110663", source="MONDO:Redundant", source="OMIM:601462"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1955 ! CHRNA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1955 {source="MONDO:mim2gene_medgen"} ! CHRNA1

[Term]
id: MONDO:0011089
name: patent ductus venosus
synonym: "patent ductus venosus" EXACT [MONDO:Lexical, OMIM:601466]
synonym: "PDV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601466]
synonym: "portosystemic Venous shunt, congenital" RELATED [OMIM:601466]
synonym: "PSVS" RELATED ABBREVIATION [GARD:0010483]
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562830 {source="MONDO:equivalentTo"}
xref: OMIM:601466 {source="MONDO:equivalentTo"}
xref: SCTID:253330006 {source="MONDO:equivalentTo"}
xref: UMLS:C0344688 {source="MEDGEN:91033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10483/patent-ductus-venosus" xsd:anyURI {source="GARD:0010483"}

[Term]
id: MONDO:0011090
name: isolated hereditary congenital facial paralysis
def: "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." [Orphanet:306527]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:8583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306527"}
subset: ordo_morphological_anomaly {source="Orphanet:306527"}
subset: orphanet_rare {source="Orphanet:306527"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [OMIM:601471]
synonym: "facial paresis hereditary congenital" RELATED [GARD:0008583]
synonym: "facial paresis, hereditary congenital" RELATED [OMIMPS:601471]
synonym: "HCFP" BROAD ABBREVIATION []
synonym: "hereditary congenital facial paresis" RELATED [GARD:0008583]
synonym: "MBS2 (formerly)" RELATED [GARD:0008583]
synonym: "Mobius syndrome 2 (formerly)" RELATED [GARD:0008583]
synonym: "Moebius syndrome 2 (formerly)" RELATED [GARD:0008583]
xref: GARD:8583 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:306527", source="Orphanet:306527/attributed", source="Orphanet:306527/ntbt"}
xref: MEDGEN:1381843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563309 {source="MONDO:equivalentTo"}
xref: OMIMPS:601471 {source="MONDO:equivalentTo"}
xref: Orphanet:306527 {source="MONDO:equivalentTo", source="OMIM:601471"}
xref: SCTID:733091002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518577 {source="MEDGEN:1381843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital nervous system disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601471"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis" xsd:anyURI {source="GARD:0008583"}

[Term]
id: MONDO:0011091
name: Charcot-Marie-Tooth disease type 2D
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." [Orphanet:99938]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99938"}
subset: orphanet_rare {source="Orphanet:99938"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [DOID:0110164]
synonym: "Charcot Marie Tooth disease type 2D" RELATED [GARD:0001251]
synonym: "Charcot-Marie-Tooth disease neuronal type 2D" EXACT [DOID:0110164]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2D" RELATED [GARD:0001251, MONDO:Lexical, OMIM:601472]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2D" RELATED [OMIM:601472]
synonym: "Charcot-Marie-Tooth disease, type 2D" EXACT [OMIM:601472, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2D" EXACT [DOID:0110164]
synonym: "Charcot-Marie-Tooth neuropathy, type 2D" RELATED [OMIM:601472]
synonym: "CMT 2D" RELATED [GARD:0001251]
synonym: "CMT2D" EXACT ABBREVIATION [DOID:0110164, MONDO:Lexical, OMIM:601472, Orphanet:99938]
synonym: "GARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110164 {source="MONDO:equivalentTo"}
xref: GARD:1251 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99938/attributed", source="Orphanet:99938/ntbt", source="DOID:0110164", source="Orphanet:99938"}
xref: MEDGEN:316946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537993 {source="MONDO:equivalentTo"}
xref: NCIT:C122659 {source="MONDO:equivalentTo"}
xref: OMIM:601472 {source="Orphanet:99938/e", source="MONDO:equivalentTo", source="DOID:0110164", source="Orphanet:99938"}
xref: Orphanet:99938 {source="MONDO:equivalentTo", source="DOID:0110164", source="OMIM:601472"}
xref: SCTID:717011006 {source="MONDO:equivalentTo"}
xref: UMLS:C1832274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:316946"}
is_a: MONDO:0015626 {source="DOID:0110164/inferred", source="MESH:C537993", source="MONDO:Redundant", source="NCIT:C122659", source="OMIM:601472", source="Orphanet:99938/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110164", source="MONDO:Redundant", source="Orphanet:99938"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4162 ! GARS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4162 {source="MONDO:mim2gene_medgen"} ! GARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d" xsd:anyURI {source="GARD:0001251"}

[Term]
id: MONDO:0011092
name: ribbing disease
def: "Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described." [https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease]
synonym: "diaphyseal sclerosis, multiple" RELATED [OMIM:601477]
synonym: "hereditary multiple diaphyseal sclerosis" RELATED [GARD:0008494]
synonym: "multiple diaphyseal sclerosis" RELATED [GARD:0008494]
synonym: "ribbing disease" EXACT [OMIM:601477]
xref: MEDGEN:321923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537613 {source="MONDO:equivalentTo"}
xref: OMIM:601477 {source="MONDO:equivalentTo"}
xref: UMLS:C1832273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321923"}
is_a: MONDO:0003847 {source="MESH:C537613/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease" xsd:anyURI {source="GARD:0008494"}

[Term]
id: MONDO:0011093
name: mucopolysaccharidosis type 9
def: "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." [NCIT:C129073]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67041"}
subset: orphanet_rare {source="Orphanet:67041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyaluronidase deficiency" RELATED [OMIM:601492]
synonym: "MPS 9" RELATED [OMIM:601492]
synonym: "MPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601492, Orphanet:67041]
synonym: "MPSIX" EXACT ABBREVIATION [Orphanet:67041]
synonym: "mucopolysaccharidosis IX" RELATED [DOID:0050809]
synonym: "mucopolysaccharidosis type 9" EXACT [Orphanet:67041]
synonym: "mucopolysaccharidosis type IX" EXACT [DOID:0050809, MONDORULE:3, Orphanet:67041]
synonym: "mucopolysaccharidosis, type 9" RELATED [OMIM:601492]
synonym: "mucopolysaccharidosis, type IX" RELATED [MONDO:Lexical, OMIM:601492]
xref: DOID:0050809 {source="MONDO:equivalentTo"}
xref: GARD:16675 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:67041", source="Orphanet:67041/attributed", source="Orphanet:67041/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563209 {source="MONDO:equivalentTo"}
xref: NANDO:1200115 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129073 {source="MONDO:equivalentTo"}
xref: OMIM:601492 {source="DOID:0050809", source="MONDO:equivalentTo", source="Orphanet:67041", source="Orphanet:67041/e"}
xref: Orphanet:67041 {source="MONDO:equivalentTo", source="OMIM:601492"}
xref: SCTID:124473006 {source="MONDO:equivalentTo"}
xref: UMLS:C1291490 {source="MONDO:equivalentTo", source="MEDGEN:226942", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019249 {source="DC-OMIM:601492", source="DOID:0050809", source="MESH:C563209", source="MONDO:Redundant", source="NCIT:C129073", source="OMIM:601492", source="Orphanet:67041"} ! mucopolysaccharidosis
intersection_of: MONDO:0019249 ! mucopolysaccharidosis
intersection_of: disease_has_basis_in_disruption_of GO:0004415 ! hyalurononglucosaminidase activity
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5320 {source="MONDO:mim2gene_medgen"} ! HYAL1

[Term]
id: MONDO:0011094
name: dilated cardiomyopathy 1C
def: "A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2." [DOID:0110423, PMID:14662268]
subset: gard_rare {source="GARD:15331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:601493]
synonym: "cardiomyopathy, dilated, 1C, with or without LVNC" EXACT [OMIM:601493, OMIM:genemap2]
synonym: "cardiomyopathy, familial hypertrophic, 24" RELATED [OMIM:601493]
synonym: "cardiomyopathy, hypertrophic, 24" EXACT [OMIM:601493, OMIM:genemap2]
synonym: "CMD1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601493]
synonym: "CMDC1" EXACT ABBREVIATION [DOID:0110423]
synonym: "dilated cardiomyopathy 1C with or without left ventricular noncompaction" EXACT [DOID:0110423]
synonym: "dilated cardiomyopathy type 1C" EXACT [DOID:0110423, MONDORULE:4]
synonym: "left ventricular noncompaction 3" RELATED [OMIM:601493]
xref: DOID:0110423 {source="MONDO:equivalentTo"}
xref: GARD:15331 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110423"}
xref: MEDGEN:316944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563307 {source="MONDO:equivalentTo"}
xref: NCIT:C170436 {source="MONDO:equivalentTo"}
xref: OMIM:601493 {source="DOID:0110423", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:601493"}
xref: Orphanet:54260 {source="OMIM:601493"}
xref: UMLS:C1832244 {source="MONDO:equivalentTo", source="MEDGEN:316944", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0018901 {source="DC-OMIM:601493", source="OMIM:601493"} ! left ventricular noncompaction
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011095
name: dilated cardiomyopathy 1D
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15332", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1D" RELATED [MONDO:Lexical, OMIM:601494]
synonym: "cardiomyopathy, dilated, type 1D" EXACT [MONDORULE:4, OMIM:601494]
synonym: "CMD1D" EXACT ABBREVIATION [DOID:0110426, MONDO:Lexical, OMIM:601494]
synonym: "dilated cardiomyopathy 1D" EXACT CLINGEN_LABEL []
synonym: "dilated cardiomyopathy type 1D" EXACT [DOID:0110426, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 6" RELATED [OMIM:601494]
synonym: "TNNT2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110426 {source="MONDO:equivalentTo"}
xref: GARD:15332 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110426"}
xref: MEDGEN:316943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563306 {source="MONDO:equivalentTo"}
xref: OMIM:601494 {source="DOID:0110426", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:601494"}
xref: Orphanet:54260 {source="OMIM:601494"}
xref: UMLS:C1832243 {source="MEDGEN:316943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018901 {source="DC-OMIM:601494", source="OMIM:601494"} ! left ventricular noncompaction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 {source="MONDO:mim2gene_medgen"} ! TNNT2

[Term]
id: MONDO:0011096
name: autosomal agammaglobulinemia
def: "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." [Orphanet:33110]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:33110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495]
synonym: "agammaglobulinemia, non-Bruton type" EXACT [Orphanet:33110]
synonym: "AGM" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: GARD:9640 {source="MONDO:GARD"}
xref: ICD10CM:D80.0 {source="Orphanet:33110/inclusion", source="Orphanet:33110/ntbt", source="Orphanet:33110"}
xref: MEDGEN:316941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538056 {source="MONDO:equivalentTo"}
xref: Orphanet:229717 {source="OMIM:601495"}
xref: Orphanet:33110 {source="OMIM:601495", source="MONDO:equivalentTo"}
xref: UMLS:C1832241 {source="MEDGEN:316941", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015977 {source="MESH:C538056", source="MONDO:Redundant", source="OMIM:601495", source="Orphanet:33110/inferred"} ! agammaglobulinemia
is_a: MONDO:0016462 {source="Orphanet:33110"} ! isolated agammaglobulinemia

[Term]
id: MONDO:0011097
name: Axenfeld-Rieger syndrome type 2
def: "An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14." [DOID:0110121, PMID:8751862]
subset: gard_rare {source="GARD:10517", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Axenfeld-Rieger syndrome, type 2" RELATED [MONDO:Lexical, OMIM:601499]
synonym: "RIEG2" EXACT ABBREVIATION [DOID:0110121, MONDO:Lexical, OMIM:601499]
synonym: "Rieger syndrome type 2" EXACT [DOID:0110121]
synonym: "Rieger syndrome, type 2" RELATED [OMIM:601499]
xref: DOID:0110121 {source="MONDO:equivalentTo"}
xref: GARD:10517 {source="MONDO:GARD"}
xref: ICD10CM:Q13.8 {source="DOID:0110121"}
xref: MEDGEN:316937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535680 {source="MONDO:equivalentTo"}
xref: OMIM:601499 {source="MONDO:equivalentTo", source="DOID:0110121"}
xref: Orphanet:782 {source="OMIM:601499"}
xref: UMLS:C1832229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:316937"}
is_a: MONDO:0019187 {source="DC-OMIM:601499", source="DOID:0110121", source="OMIM:601499"} ! Axenfeld-Rieger syndrome

[Term]
id: MONDO:0011098
name: prostate cancer, hereditary, 1
def: "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15334", source="MONDO:GARD"}
subset: rare
synonym: "familial prostate cancer caused by mutation in RNASEL" EXACT [MONDO:design_pattern]
synonym: "HPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601518]
synonym: "Prca1" RELATED [OMIM:601518]
synonym: "prostate cancer 1" EXACT [OMIM:601518, OMIM:genemap2]
synonym: "prostate cancer, hereditary, 1" EXACT [MONDO:Lexical, OMIM:601518]
synonym: "prostate cancer, hereditary, type 1" EXACT [MONDORULE:1, OMIM:601518]
synonym: "RNASEL familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15334 {source="MONDO:GARD"}
xref: MEDGEN:1648436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601518 {source="MONDO:equivalentTo"}
xref: UMLS:C4722327 {source="MEDGEN:1648436", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:601518", source="MONDO:0011098/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 {source="MONDO:Redundant"} ! familial prostate carcinoma
intersection_of: MONDO:0023122 ! familial prostate carcinoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10050 ! RNASEL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10050 {source="MONDO:mim2gene_medgen"} ! RNASEL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011099
name: human HOXA1 syndromes
def: "Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive." [Orphanet:69739]
subset: gard_rare {source="GARD:8333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69739"}
subset: orphanet_rare {source="Orphanet:69739"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601536]
synonym: "ABSD" EXACT ABBREVIATION [Orphanet:69739]
synonym: "Athabascan brainstem dysgenesis syndrome" EXACT [Orphanet:69739]
synonym: "Athabaskan brainstem dysgenesis" RELATED [GARD:0008333]
synonym: "Athabaskan brainstem dysgenesis syndrome" EXACT [MONDO:Lexical, OMIM:601536]
synonym: "Bosley Salih Alorainy syndrome" RELATED [GARD:0008333]
synonym: "Bosley-Salih-Alorainy syndrome" RELATED [OMIM:601536]
synonym: "BSAS" RELATED ABBREVIATION [GARD:0008333]
synonym: "Human HOXA1 syndromes" RELATED [GARD:0008333]
synonym: "Navajo brainstem syndrome" EXACT [DOID:0050682, OMIM:601536, Orphanet:69739]
xref: DOID:0050682 {source="MONDO:equivalentTo"}
xref: GARD:8333 {source="MONDO:GARD"}
xref: MEDGEN:330410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535397 {source="Orphanet:69739", source="Orphanet:69739/e"}
xref: OMIM:601536 {source="DOID:0050682", source="MONDO:equivalentTo", source="Orphanet:69739", source="Orphanet:69739/e"}
xref: Orphanet:69737 {source="OMIM:601536"}
xref: Orphanet:69739 {source="MONDO:equivalentTo", source="OMIM:601536"}
xref: SCTID:720518006 {source="MONDO:equivalentTo"}
xref: UMLS:C1832215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330410"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0050682", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="Orphanet:69739"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5099 {source="MONDO:mim2gene_medgen"} ! HOXA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1377" xsd:anyURI

[Term]
id: MONDO:0011100
name: microcephaly, retinitis pigmentosa, and sutural cataract
synonym: "microcephaly, retinitis pigmentosa, and sutural cataract" EXACT [OMIM:601537]
xref: MEDGEN:316936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563296 {source="MONDO:equivalentTo"}
xref: OMIM:601537 {source="MONDO:equivalentTo"}
xref: UMLS:C1832214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:316936"}
is_a: MONDO:0003847 {source="MESH:C563296/inferred"} ! hereditary disease

[Term]
id: MONDO:0011101
name: peroxisome biogenesis disorder 1B
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenoleukodystrophy, autosomal neonatal" RELATED [OMIM:601539]
synonym: "infantile phytanic acid storage disease" RELATED [OMIM:601539]
synonym: "PBD1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601539]
synonym: "peroxisome biogenesis disorder (NALD/Ird)" RELATED [OMIM:601539]
synonym: "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" RELATED [OMIM:601539]
synonym: "peroxisome biogenesis disorder 1B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:601539]
synonym: "peroxisome biogenesis disorder 1B (NALD/IRD)" EXACT [OMIM:601539, OMIM:genemap2]
synonym: "peroxisome biogenesis disorder type 1B" EXACT [MONDORULE:4, OMIM:601539]
synonym: "Refsum disease, infantile" RELATED [OMIM:601539]
xref: DOID:0081240 {source="MONDO:equivalentTo"}
xref: MEDGEN:79470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155749 {source="MONDO:equivalentTo"}
xref: OMIM:601539 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:601539", source="MONDO:directSiblingOf"}
xref: Orphanet:772 {source="OMIM:601539", source="MONDO:directSiblingOf"}
xref: UMLS:C0282527 {source="MEDGEN:79470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100259 {source="DC-OMIM:601539", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX1 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0011101/inferred", source="MONDO:Redundant", source="OMIM:601539", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8850 {source="MONDO:mim2gene_medgen"} ! PEX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011102
name: autosomal dominant nonsyndromic hearing loss 12
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18107", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 12" NARROW [DOID:0110544]
synonym: "autosomal dominant deafness 8" NARROW [DOID:0110544]
synonym: "autosomal dominant nonsyndromic deafness 12" NARROW [OMIM:601543]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TECTA" NARROW [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant nonsyndromic deafness type 12" NARROW [DOID:0110544, MONDORULE:2]
synonym: "autosomal dominant nonsyndromic hearing loss 12" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal dominant 12" NARROW [MONDO:Lexical, OMIM:601543]
synonym: "deafness, autosomal dominant 8" NARROW [OMIM:601543]
synonym: "deafness, autosomal dominant 8/12" NARROW [OMIM:601543, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 12" NARROW [MONDORULE:2, OMIM:601543]
synonym: "DFNA12" NARROW ABBREVIATION [DOID:0110544, MONDO:Lexical, OMIM:601543]
synonym: "DFNA8" NARROW ABBREVIATION [DOID:0110544]
synonym: "TECTA autosomal dominant nonsyndromic deafness" NARROW [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110544 {source="MONDO:equivalentTo"}
xref: GARD:18107 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110544"}
xref: MEDGEN:321902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563295 {source="MONDO:equivalentTo"}
xref: OMIM:601543 {source="DOID:0110544", source="MONDO:equivalentTo"}
xref: UMLS:C1832187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321902"}
is_a: MONDO:0019587 {source="DC-OMIM:601543", source="DOID:0110544", source="MONDO:Redundant", source="OMIM:601543"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11720 ! TECTA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11720 {source="MONDO:mim2gene_medgen"} ! TECTA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011103
name: autosomal dominant nonsyndromic hearing loss 3A
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: consider adding grouping for 3A/3B
subset: gard_rare {source="GARD:9933", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 3A" NARROW [DOID:0110564]
synonym: "autosomal dominant nonsyndromic deafness 3A" NARROW [OMIM:601544]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB2" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 3A" NARROW [DOID:0110564, MONDORULE:4]
synonym: "deafness, autosomal dominant 3A" NARROW [MONDO:Lexical, OMIM:601544]
synonym: "deafness, autosomal dominant 3a" NARROW [OMIM:601544, OMIM:genemap2]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 3" NARROW [GARD:0009933]
synonym: "deafness, autosomal dominant type 3A" NARROW [MONDORULE:4, OMIM:601544]
synonym: "DFNA3" NARROW ABBREVIATION [GARD:0009933]
synonym: "DFNA3A" NARROW ABBREVIATION [DOID:0110564, MONDO:Lexical, OMIM:601544]
synonym: "GJB2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neurosensory nonsyndromic dominant deafness 1" NARROW [GARD:0009933]
synonym: "NSRD1" NARROW ABBREVIATION [GARD:0009933]
xref: DOID:0110564 {source="MONDO:equivalentTo"}
xref: GARD:9933 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110564"}
xref: MEDGEN:436512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567277 {source="MONDO:equivalentTo"}
xref: OMIM:601544 {source="MONDO:equivalentTo", source="DOID:0110564"}
xref: UMLS:C2675750 {source="MEDGEN:436512", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:601544", source="DOID:0110564", source="MONDO:Redundant", source="OMIM:601544"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 ! GJB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011104
name: cataract 3 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15335", source="MONDO:GARD"}
subset: rare
synonym: "cataract (disease) caused by mutation in CRYBB2" EXACT []
synonym: "cataract 3 multiple types with or without microcornea" EXACT [DOID:0110269]
synonym: "cataract 3, multiple types" RELATED [MONDO:Lexical, OMIM:601547]
synonym: "cataract 3, multiple types, with or without microcornea" RELATED [OMIM:601547]
synonym: "cataract, congenital, cerulean type, 2" RELATED [OMIM:601547]
synonym: "CCA2" NARROW ABBREVIATION [DOID:0110269]
synonym: "congenital cerulean type cataract 2" NARROW [DOID:0110269]
synonym: "CRYBB2 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT3" EXACT ABBREVIATION [DOID:0110269, MONDO:Lexical, OMIM:601547]
xref: DOID:0110269 {source="MONDO:equivalentTo"}
xref: GARD:15335 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110269"}
xref: MEDGEN:321901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563294 {source="MONDO:equivalentTo"}
xref: OMIM:601547 {source="DOID:0110269", source="MONDO:equivalentTo"}
xref: Orphanet:1377 {source="MONDO:relatedTo", source="OMIM:601547"}
xref: Orphanet:217052 {source="OMIM:601547"}
xref: Orphanet:91492 {source="MONDO:relatedTo", source="OMIM:601547"}
xref: Orphanet:98985 {source="MONDO:relatedTo", source="OMIM:601547"}
xref: Orphanet:98986 {source="OMIM:601547"}
xref: Orphanet:98989 {source="MONDO:relatedTo", source="OMIM:601547"}
xref: Orphanet:98991 {source="MONDO:relatedTo", source="OMIM:601547"}
xref: Orphanet:98994 {source="MONDO:relatedTo", source="OMIM:601547"}
xref: UMLS:C1832175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321901"}
is_a: MONDO:0005129 {source="DOID:0110269", source="MESH:C563294", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:601547"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2398 ! CRYBB2
relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cataract - microcornea syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2398 {source="MONDO:mim2gene_medgen"} ! CRYBB2

[Term]
id: MONDO:0011105
name: alacrima, congenital, autosomal recessive
subset: gard_rare {source="GARD:18166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alacrima, congenital, autosomal recessive" EXACT [OMIM:601549]
xref: GARD:18166 {source="MONDO:GARD"}
xref: MEDGEN:861034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601549 {source="MONDO:equivalentTo"}
xref: Orphanet:91416 {source="OMIM:601549"}
xref: UMLS:C4012597 {source="MEDGEN:861034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019627 {source="Orphanet:91416/btnt"} ! isolated congenital alacrima
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011106
name: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
def: "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." [Orphanet:412022]
subset: gard_rare {source="GARD:17688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412022"}
subset: ordo_malformation_syndrome {source="Orphanet:412022"}
subset: orphanet_rare {source="Orphanet:412022"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism" RELATED [OMIM:601552]
synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" RELATED [MONDO:Lexical, OMIM:601552]
synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome" EXACT [Orphanet:412022]
synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" EXACT CLINGEN_LABEL []
synonym: "FDLAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601552]
synonym: "FDLAB syndrome" EXACT [Orphanet:412022]
synonym: "Traboulsi syndrome" EXACT [OMIM:601552, Orphanet:412022]
xref: GARD:17688 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:412022/attributed", source="Orphanet:412022/ntbt", source="Orphanet:412022"}
xref: MEDGEN:330396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563293 {source="MONDO:equivalentTo"}
xref: OMIM:601552 {source="Orphanet:412022/e", source="MONDO:equivalentTo", source="Orphanet:412022"}
xref: Orphanet:412022 {source="OMIM:601552", source="MONDO:equivalentTo"}
xref: UMLS:C1832167 {source="MEDGEN:330396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001176 ! lens disorder
is_a: MONDO:0005328 ! eye disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/757 {source="MONDO:mim2gene_medgen"} ! ASPH

[Term]
id: MONDO:0011107
name: congenital hypotrichosis with juvenile macular dystrophy
def: "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." [Orphanet:1573]
subset: gard_rare {source="GARD:3066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1573"}
subset: ordo_malformation_syndrome {source="Orphanet:1573"}
subset: orphanet_rare {source="Orphanet:1573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HJMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601553, Orphanet:1573]
synonym: "Hjmd" EXACT [DOID:0110711]
synonym: "hypotrichosis with cone-rod dystrophy" EXACT [DOID:0110711, OMIM:601553]
synonym: "hypotrichosis with juvenile macular degeneration" RELATED [Orphanet:1573]
synonym: "hypotrichosis with juvenile macular dystrophy" EXACT [Orphanet:1573]
synonym: "hypotrichosis, congenital, with juvenile macular dystrophy" RELATED [MONDO:Lexical, OMIM:601553]
synonym: "juvenile macular degeneration and hypotrichosis" RELATED [GARD:0003066]
synonym: "juvenile macular dystrophy and congenital hypotrichosis" RELATED [GARD:0003066]
xref: DOID:0110711 {source="MONDO:equivalentTo"}
xref: GARD:3066 {source="MONDO:GARD"}
xref: ICD10CM:Q84.0 {source="Orphanet:1573/attributed", source="Orphanet:1573/ntbt", source="Orphanet:1573"}
xref: MEDGEN:316921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537698 {source="MONDO:equivalentTo"}
xref: OMIM:601553 {source="DOID:0110711", source="Orphanet:1573", source="MONDO:equivalentTo", source="Orphanet:1573/e"}
xref: Orphanet:1573 {source="OMIM:601553", source="MONDO:equivalentTo"}
xref: UMLS:C1832162 {source="MEDGEN:316921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003037 {source="DOID:0110711", source="MESH:C537698"} ! hypotrichosis
is_a: MONDO:0019287 {source="Orphanet:1573"} ! ectodermal dysplasia syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1762 {source="MONDO:mim2gene_medgen"} ! CDH3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011108
name: obsolete Stüve-Wiedemann syndrome
subset: clingen {source="MONDO:CLINGEN"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800043

[Term]
id: MONDO:0011109
name: multiple epiphyseal dysplasia, Lowry type
def: "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." [Orphanet:166016]
subset: gard_rare {source="GARD:17013", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166016"}
subset: orphanet_rare {source="Orphanet:166016"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epiphyseal dysplasia, multiple, with Robin phenotype" RELATED [OMIM:601560]
synonym: "multiple epiphyseal dysplasia with ROBIN phenotype" RELATED [OMIM:601560]
synonym: "multiple epiphyseal dysplasia with Robin phenotype" EXACT [Orphanet:166016]
xref: GARD:17013 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:166016", source="Orphanet:166016/attributed", source="Orphanet:166016/ntbt"}
xref: MEDGEN:321890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563291 {source="MONDO:equivalentTo"}
xref: OMIM:601560 {source="MONDO:equivalentTo", source="Orphanet:166016", source="Orphanet:166016/e"}
xref: Orphanet:166016 {source="MONDO:equivalentTo", source="OMIM:601560"}
xref: SCTID:768935003 {source="MONDO:equivalentTo"}
xref: UMLS:C1832112 {source="MEDGEN:321890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016648 {source="Orphanet:166016"} ! multiple epiphyseal dysplasia

[Term]
id: MONDO:0011110
name: dyssegmental dysplasia-glaucoma syndrome
def: "This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." [Orphanet:1804]
subset: ordo_malformation_syndrome {source="Orphanet:1804"}
synonym: "dyssegmental dysplasia and glaucoma" RELATED [GARD:0002025]
synonym: "dyssegmental dysplasia with glaucoma" RELATED [OMIM:601561]
xref: MEDGEN:330382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563290 {source="MONDO:equivalentTo"}
xref: OMIM:601561 {source="Orphanet:1804/e", source="MONDO:equivalentTo", source="Orphanet:1804"}
xref: Orphanet:1804 {source="OMIM:601561", source="GARD:0002025", source="MONDO:equivalentObsolete"}
xref: UMLS:C1832111 {source="MEDGEN:330382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1804", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2025/dyssegmental-dysplasia-and-glaucoma" xsd:anyURI {source="GARD:0002025"}

[Term]
id: MONDO:0011111
name: obsolete horns in sheep
comment: Reason: out of scope. Term to consider: none
synonym: "Ho" RELATED [OMIM:601563]
synonym: "horns in sheep" EXACT [OMIM:601563]
xref: OMIM:601563 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4424" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011112
name: Wilms tumor 5
def: "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bilateral radial aplasia with Wilms tumor" RELATED [GARD:0005578]
synonym: "bilateral radial aplasia with Wilms tumour" RELATED OMO:0003005 []
synonym: "Wilms tumor 5" EXACT [MONDO:Lexical, OMIM:601583]
synonym: "Wilms tumor and radial bilateral aplasia" RELATED [GARD:0005578]
synonym: "Wilms tumor susceptibility-5, autosomal dominant, somatic mutation" EXACT [OMIM:601583, OMIM:genemap2]
synonym: "Wilms tumor type 5" EXACT [MONDORULE:1, OMIM:601583]
synonym: "Wilms tumor, susceptibility to" RELATED [OMIM:601583]
synonym: "Wilms tumour and radial bilateral aplasia" RELATED OMO:0003005 []
synonym: "Wilms tumour susceptibility-5, autosomal dominant, somatic mutation" EXACT OMO:0003005 []
synonym: "Wilms tumour type 5" EXACT OMO:0003005 []
synonym: "WT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601583]
xref: GARD:15336 {source="MONDO:GARD"}
xref: MEDGEN:316905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536707 {source="MONDO:equivalentTo"}
xref: OMIM:601583 {source="MONDO:equivalentTo"}
xref: Orphanet:654 {source="OMIM:601583"}
xref: UMLS:C1832099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:316905"}
is_a: MONDO:0003321 {source="MESH:C536707", source="MONDO:Redundant", source="OMIM:601583"} ! hereditary Wilms tumor
is_a: MONDO:0019004 {source="DC-OMIM:601583"} ! kidney Wilms tumor
intersection_of: MONDO:0003321 ! hereditary Wilms tumor
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21694 ! POU6F2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21694 {source="MONDO:mim2gene_medgen"} ! POU6F2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011113
name: Charcot-Marie-Tooth disease type 4C
def: "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." [Orphanet:99949]
subset: gard_rare {source="GARD:9201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99949"}
subset: orphanet_rare {source="Orphanet:99949"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" EXACT [DOID:0110183]
synonym: "Charcot Marie Tooth disease type 4C" RELATED [GARD:0009201]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 4C" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C" RELATED [OMIM:601596]
synonym: "Charcot-Marie-Tooth disease, type 4C" RELATED [MONDO:Lexical, OMIM:601596]
synonym: "Charcot-Marie-Tooth neuropathy type 4C" EXACT [DOID:0110183]
synonym: "Charcot-Marie-Tooth neuropathy, type 4C" RELATED [OMIM:601596]
synonym: "CMT 4C" RELATED [GARD:0009201]
synonym: "CMT4C" EXACT ABBREVIATION [DOID:0110183, MONDO:Lexical, OMIM:601596, Orphanet:99949]
synonym: "SH3TC2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110183 {source="MONDO:equivalentTo"}
xref: GARD:9201 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110183", source="Orphanet:99949/attributed", source="Orphanet:99949/ntbt", source="Orphanet:99949"}
xref: MEDGEN:356581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535423 {source="Orphanet:99949/e", source="MONDO:equivalentTo", source="Orphanet:99949"}
xref: NCIT:C129864 {source="MONDO:equivalentTo"}
xref: OMIM:601596 {source="Orphanet:99949/e", source="DOID:0110183", source="MONDO:equivalentTo", source="Orphanet:99949"}
xref: Orphanet:99949 {source="OMIM:601596", source="DOID:0110183", source="MONDO:equivalentTo"}
xref: SCTID:715797002 {source="MONDO:equivalentTo"}
xref: UMLS:C1866636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356581"}
is_a: MONDO:0015626 {source="DOID:0110183/inferred", source="MESH:C535423", source="MONDO:Redundant", source="NCIT:C129864", source="OMIM:601596", source="Orphanet:99949/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110183", source="MONDO:Redundant", source="Orphanet:99949"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29427 ! SH3TC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29427 {source="MONDO:mim2gene_medgen"} ! SH3TC2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c" xsd:anyURI {source="GARD:0009201"}

[Term]
id: MONDO:0011114
name: familial multiple trichoepithelioma
subset: gard_rare {source="GARD:10867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606]
synonym: "epithelioma adenoides cysticum" RELATED [GARD:0010867]
synonym: "epithelioma Adenoides Cysticum of Brooke" RELATED [OMIM:601606]
synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606]
synonym: "hereditary multiple benign cystic epithelioma" RELATED [GARD:0010867]
synonym: "multiple familial trichoepithelioma" RELATED [GARD:0010867]
synonym: "trichoepithelioma multiple familial" RELATED [GARD:0010867]
xref: GARD:10867 {source="MONDO:GARD"}
xref: ICD10CM:D23.3 {source="Orphanet:867/attributed", source="Orphanet:867/ntbt", source="Orphanet:867"}
xref: MEDGEN:220890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536552 {source="Orphanet:867", source="Orphanet:867/e"}
xref: Orphanet:79493 {source="OMIM:601606"}
xref: Orphanet:867 {source="MONDO:equivalentTo", source="OMIM:601606"}
xref: SCTID:403825008 {source="MONDO:equivalentTo"}
xref: UMLS:C1275122 {source="MEDGEN:220890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011512 {source="Orphanet:867"} ! Brooke-Spiegler syndrome
relationship: has_characteristic HP:0000006 {source="Orphanet:867"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2584 {source="MONDO:mim2gene_medgen"} ! CYLD

[Term]
id: MONDO:0011115
name: spastic paraplegia and Evans syndrome
synonym: "spastic paraplegia and Evans syndrome" EXACT [OMIM:601608]
xref: MEDGEN:355764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566652 {source="MONDO:equivalentTo"}
xref: OMIM:601608 {source="MONDO:equivalentTo"}
xref: UMLS:C1866619 {source="MEDGEN:355764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566652/inferred"} ! hereditary disease

[Term]
id: MONDO:0011116
name: lung agenesis-heart defect-thumb anomalies syndrome
def: "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." [Orphanet:1120]
subset: gard_rare {source="GARD:3378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1120"}
subset: ordo_malformation_syndrome {source="Orphanet:1120"}
subset: orphanet_rare {source="Orphanet:1120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LACHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601612]
synonym: "lung agenesis heart defect thumb anomalies" RELATED [GARD:0003378, MESH:C535708]
synonym: "lung agenesis, congenital heart defects, and thumb anomalies syndrome" RELATED [MONDO:Lexical, OMIM:601612]
synonym: "Manouvrier syndrome" RELATED [GARD:0003378]
synonym: "Mardini-Nyhan association" RELATED [OMIM:601612]
synonym: "Mardini-Nyhan syndrome" EXACT [Orphanet:1120]
synonym: "pulmonary aplasia and triphalangia of the thumb" RELATED [GARD:0003378, MESH:C535708]
xref: GARD:3378 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1120", source="Orphanet:1120/attributed", source="Orphanet:1120/ntbt"}
xref: MEDGEN:477585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535708 {source="MONDO:equivalentTo"}
xref: OMIM:601612 {source="Orphanet:1120", source="MONDO:equivalentTo", source="Orphanet:1120/e"}
xref: Orphanet:1120 {source="GARD:0003378", source="MONDO:equivalentTo", source="OMIM:601612"}
xref: SCTID:721976003 {source="MONDO:equivalentTo"}
xref: UMLS:C3275954 {source="MEDGEN:477585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005087 {source="Orphanet:1120", source="Orphanet:1120/inferred"} ! respiratory system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1120", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome" xsd:anyURI {source="GARD:0003378"}

[Term]
id: MONDO:0011117
name: iris pigment epithelium anomalies
synonym: "cysts of iris pigment epithelium" RELATED [OMIM:601616]
synonym: "iris pigment epithelium anomalies" EXACT [OMIM:601616]
synonym: "ruffles and cysts of iris pigment epithelium" RELATED [OMIM:601616]
xref: MEDGEN:357091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566651 {source="MONDO:equivalentTo"}
xref: OMIM:601616 {source="MONDO:equivalentTo"}
xref: UMLS:C1866608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357091"}
is_a: MONDO:0003847 {source="MESH:C566651/inferred"} ! hereditary disease

[Term]
id: MONDO:0011118
name: bilineal acute myeloid leukemia
def: "An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003" [NCIT:C6923]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acute bilineal leukaemia" EXACT OMO:0003005 []
synonym: "acute bilineal leukemia" EXACT [NCIT:C6923]
synonym: "bilineal acute leukaemia" RELATED OMO:0003005 []
synonym: "bilineal acute leukemia" RELATED [Orphanet:98836]
xref: ICD10CM:C95.0 {source="Orphanet:98836", source="Orphanet:98836/ntbt"}
xref: MEDGEN:87614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6923 {source="MONDO:equivalentTo"}
xref: Orphanet:98836 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0349680 {source="MEDGEN:87614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019460 {source="NCIT:C6923/inferred", source="NCIT:C82179", source="Orphanet:98836"} ! acute leukemia of ambiguous lineage
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0011119
name: iridogoniodysgenesis
comment: Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2
subset: disease_grouping
subset: gard_rare {source="GARD:16484", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98634"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IRID" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050786 {source="https://github.com/monarch-initiative/mondo/issues/203", source="MONDO:equivalentTo"}
xref: GARD:16484 {source="MONDO:GARD"}
xref: MEDGEN:861486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98634 {source="MONDO:equivalentTo"}
xref: UMLS:C4013049 {source="MEDGEN:861486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019503 {source="https://orcid.org/0000-0002-6601-2165"} ! anterior segment dysgenesis

[Term]
id: MONDO:0011120
name: neural tube defects, folate-sensitive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neural tube defects, folate-sensitive" EXACT [MONDO:Lexical, OMIM:601634]
synonym: "neural tube defects, folate-sensitive, susceptibility to" RELATED [OMIM:601634, OMIM:genemap2]
synonym: "neural tube defects, susceptibility to" RELATED [OMIM:601634, OMIM:genemap2]
synonym: "NTD, folate-sensitive" RELATED [OMIM:601634]
synonym: "NTDFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601634]
synonym: "spina bifida, folate-sensitive" RELATED [OMIM:601634]
xref: MEDGEN:355746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536409 {source="MONDO:equivalentTo"}
xref: OMIM:601634 {source="MONDO:equivalentTo"}
xref: Orphanet:268357 {source="OMIM:601634"}
xref: Orphanet:823 {source="OMIM:601634"}
xref: UMLS:C1866558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355746"}
is_a: MONDO:0019351 {source="Orphanet:823/btnt"} ! isolated spina bifida
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011121
name: paragangliomas 2
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glomus tumors, familial, 2" RELATED [OMIM:601650]
synonym: "paraganglioma caused by mutation in SDHAF2" EXACT [MONDO:design_pattern]
synonym: "paragangliomas 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:601650]
synonym: "paragangliomas type 2" EXACT [MONDORULE:1, OMIM:601650]
synonym: "PGL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601650]
synonym: "SDHAF2 paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)" RELATED [GARD:0010544]
xref: GARD:10544 {source="MONDO:GARD"}
xref: MEDGEN:357076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566646 {source="MONDO:equivalentTo"}
xref: OMIM:601650 {source="MONDO:equivalentTo"}
xref: Orphanet:29072 {source="OMIM:601650"}
xref: UMLS:C1866552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357076"}
is_a: MONDO:0000448 {source="DC-OMIM:601650", source="MESH:C566646", source="MONDO:Redundant", source="OMIM:601650"} ! paraganglioma
is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neoplasm
is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26034 ! SDHAF2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26034 {source="MONDO:mim2gene_medgen"} ! SDHAF2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2" xsd:anyURI {source="GARD:0010544"}

[Term]
id: MONDO:0011122
name: obesity disorder
def: "A disorder involving an excessive amount of body fat." [https://www.ama-assn.org/sites/default/files/media-browser/public/about-ama/councils/Council%20Reports/council-on-science-public-health/a13csaph3.pdf, https://www.mayoclinic.org/diseases-conditions/obesity/symptoms-causes/syc-20375742]
comment: Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes
subset: otar {source="MONDO:OTAR"}
synonym: "leanness" RELATED EXCLUDE [OMIM:601665]
synonym: "obesity" EXACT [MONDO:ambiguous, OMIM:601665]
synonym: "obesity disease" EXACT []
xref: DOID:9970 {source="MONDO:equivalentTo", source="EFO:0001073"}
xref: EFO:0001073 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001513 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E66.9 {source="DOID:9970"}
xref: ICD9:278.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0001073"}
xref: ICD9:278.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9970", source="EFO:0001073"}
xref: MEDGEN:18127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009765 {source="DOID:9970", source="EFO:0001073"}
xref: NCIT:C3283 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:9970", source="EFO:0001073"}
xref: NIFSTD:nlx_dys_20090302 {source="EFO:0001073"}
xref: Orphanet:521399 {source="MONDO:equivalentObsolete"}
xref: Orphanet:71529 {source="OMIM:601665"}
xref: SCTID:154776002 {source="DOID:9970"}
xref: SCTID:190963004 {source="DOID:9970"}
xref: SCTID:414915002 {source="DOID:9970"}
xref: SCTID:414916001 {source="MONDO:equivalentTo", source="DOID:9970", source="EFO:0001073"}
xref: SCTID:5476005 {source="DOID:9970"}
xref: UMLS:C0028754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18127"}
is_a: MONDO:0003916 {source="DOID:9970"} ! overnutrition
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_feature HP:0001513 ! Obesity

[Term]
id: MONDO:0011123
name: type 1 diabetes mellitus 15
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21." [DOID:0110753, MONDO:patterns/inherited_susceptibility, PMID:8981961]
synonym: "diabetes mellitus, insulin-dependent, 15" RELATED [MONDO:Lexical, OMIM:601666]
synonym: "IDDM15" EXACT ABBREVIATION [DOID:0110753, MONDO:Lexical, OMIM:601666]
synonym: "insulin-dependent diabetes mellitus 15" EXACT [DOID:0110753, OMIM:601666]
xref: DOID:0110753 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110753"}
xref: MEDGEN:401019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566645 {source="MONDO:equivalentTo"}
xref: OMIM:601666 {source="DOID:0110753", source="MONDO:equivalentTo"}
xref: UMLS:C1866519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401019"}
is_a: MONDO:0020573 {source="OMIM:601666"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:601666", source="DOID:0110753", source="MESH:C566645", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:601666"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0011124
name: spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
def: "A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." [https://orcid.org/0000-0001-5208-3432, Orphanet:168451]
subset: gard_rare {source="GARD:17030", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:168451"}
subset: orphanet_rare {source="Orphanet:168451"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMDAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601668]
synonym: "spondyloepimetaphyseal dysplasia with abnormal dentition" RELATED [MONDO:Lexical, OMIM:601668]
xref: GARD:17030 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:168451/attributed", source="Orphanet:168451/ntbt", source="Orphanet:168451"}
xref: MEDGEN:356550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566644 {source="MONDO:equivalentTo"}
xref: OMIM:601668 {source="Orphanet:168451/e", source="MONDO:equivalentTo", source="Orphanet:168451"}
xref: Orphanet:168451 {source="MONDO:equivalentTo", source="OMIM:601668"}
xref: UMLS:C1866507 {source="MEDGEN:356550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:168451", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0011125
name: trichothiodystrophy 1, photosensitive
subset: gard_rare {source="GARD:5270", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation" RELATED [OMIM:601675]
synonym: "PIBIDS syndrome" EXACT [OMIM:601675]
synonym: "Tay syndrome" RELATED [OMIM:601675]
synonym: "trichothiodystrophy 1, photosensitive" EXACT [MONDO:Lexical, OMIM:601675]
synonym: "trichothiodystrophy with congenital ichthyosis" RELATED [OMIM:601675]
synonym: "trichothiodystrophy, photosensitive" RELATED [OMIM:601675]
synonym: "TTD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601675]
xref: DOID:0111873 {source="MONDO:equivalentTo"}
xref: GARD:5270 {source="MONDO:GARD"}
xref: MEDGEN:355730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C156433 {source="MONDO:equivalentTo"}
xref: OMIM:601675 {source="MONDO:equivalentTo"}
xref: Orphanet:453 {source="OMIM:601675"}
xref: Orphanet:670 {source="MONDO:equivalentObsolete", source="OMIM:601675"}
xref: UMLS:C1866504 {source="MONDO:equivalentTo", source="MEDGEN:355730", source="MONDO:MEDGEN"}
is_a: MONDO:0002470 {source="DC-OMIM:601675", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy
is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:601675"} ! trichothiodystrophy
intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 ! ERCC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 {source="MONDO:mim2gene_medgen"} ! ERCC2

[Term]
id: MONDO:0011126
name: acute insulin response
synonym: "acute insulin response" EXACT [OMIM:601676]
synonym: "AIR" EXACT ABBREVIATION [OMIM:601676]
xref: MEDGEN:355729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601676 {source="MONDO:equivalentTo"}
xref: UMLS:C1866503 {source="MEDGEN:355729", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0011127
name: obsolete Bartter disease type 1
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2935" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100344

[Term]
id: MONDO:0011128
name: Sheldon-hall syndrome
def: "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." [Orphanet:1147]
subset: gard_rare {source="GARD:16556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1147"}
subset: ordo_malformation_syndrome {source="Orphanet:1147"}
subset: orphanet_rare {source="Orphanet:1147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis multiplex congenita distal type 2B" RELATED [GARD:0009909]
synonym: "arthrogryposis multiplex congenita distal type II with craniofacial abnormalities" RELATED [GARD:0009909]
synonym: "arthrogryposis multiplex congenita, distal, type 2B" RELATED [OMIM:601680]
synonym: "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" RELATED [OMIM:601680]
synonym: "arthrogryposis, distal, type 2B" EXACT [MONDO:Lexical, OMIM:601680]
synonym: "DA2B" EXACT ABBREVIATION [DOID:0111599, MONDO:Lexical, OMIM:601680]
synonym: "distal arthrogryposis type 2B" EXACT [Orphanet:1147]
synonym: "Freeman Sheldon syndrome, variant" RELATED [GARD:0009909]
synonym: "Freeman Sheldon variant" RELATED [GARD:0009909]
synonym: "Freeman-Sheldon syndrome variant" EXACT [DOID:0111599, Orphanet:1147]
synonym: "Sheldon-Hall syndrome" EXACT [DOID:0111599, OMIM:601680]
xref: DOID:0111599 {source="MONDO:equivalentTo"}
xref: GARD:16556 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:1147/attributed", source="Orphanet:1147/ntbt", source="Orphanet:1147"}
xref: MEDGEN:320374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538400 {source="DOID:0111599"}
xref: Orphanet:1147 {source="MONDO:equivalentTo", source="DOID:0111599", source="OMIM:601680"}
xref: SCTID:715216008 {source="DOID:0111599"}
xref: UMLS:C1834523 {source="MEDGEN:320374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019942 {source="DOID:0111599", source="Orphanet:1147"} ! distal arthrogryposis

[Term]
id: MONDO:0011129
name: glaucoma type 1C
subset: gard_rare {source="GARD:2484", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 1, primary open angle, C" RELATED [MONDO:Lexical, OMIM:601682]
synonym: "glaucoma 1C, primary open angle" EXACT [OMIM:601682, OMIM:genemap2]
synonym: "GLC1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601682]
xref: GARD:2484 {source="MONDO:GARD"}
xref: MEDGEN:356544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601682 {source="MONDO:equivalentTo"}
xref: UMLS:C1866483 {source="MONDO:equivalentTo", source="MEDGEN:356544", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0005338 {source="OMIM:601682"} ! open-angle glaucoma
is_a: MONDO:0020366 ! congenital glaucoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c" xsd:anyURI {source="GARD:0002484"}

[Term]
id: MONDO:0011130
name: sebaceous gland hyperplasia, familial presenile
synonym: "sebaceous gland hyperplasia, familial presenile" EXACT [OMIM:601700]
xref: MEDGEN:356529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537530 {source="MONDO:equivalentTo"}
xref: OMIM:601700 {source="MONDO:equivalentTo"}
xref: UMLS:C1866428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356529"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10031/sebaceous-gland-hyperplasia-familial-presenile" xsd:anyURI {source="GARD:0010031"}

[Term]
id: MONDO:0011131
name: tricho-oculo-dermo-vertebral syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:3354"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alves syndrome" RELATED [OMIM:601701]
synonym: "Alves-dos Santos-Castelo syndrome" EXACT [Orphanet:3354]
synonym: "arthrogryposis and ectodermal dysplasia" RELATED [OMIM:601701]
synonym: "ectodermal dysplasia - cataracts - kyphoscoliosis" RELATED [GARD:0001553]
synonym: "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" EXACT [Orphanet:3354]
synonym: "Todv syndrome" RELATED [OMIM:601701]
synonym: "Trichooculodermovertebral syndrome" RELATED [OMIM:601701]
xref: MEDGEN:355714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537441 {source="MONDO:equivalentTo"}
xref: OMIM:601701 {source="Orphanet:3354", source="MONDO:equivalentTo", source="Orphanet:3354/e"}
xref: Orphanet:3354 {source="MONDO:equivalentObsolete", source="OMIM:601701"}
xref: UMLS:C1866427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355714"}
is_a: MONDO:0019287 {source="MESH:C537441", source="Orphanet:3354"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0011132
name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
def: "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." [DOID:0060769, https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy, PMID:10206641, PMID:8911612]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4358", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:169095"}
subset: orphanet_rare {source="Orphanet:169095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia immunodeficiency" EXACT []
synonym: "alymphoid cystic thymic dysgenesis" EXACT [DOID:0060769]
synonym: "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency" RELATED [GARD:0004358]
synonym: "FOXN1 deficiency" EXACT [Orphanet:169095]
synonym: "Pignata Guarino syndrome" RELATED [GARD:0004358]
synonym: "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT [DOID:0060769, Orphanet:169095]
synonym: "T-cell immunodeficiency, congenital alopecia and nail dystrophy" RELATED [GARD:0004358]
synonym: "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" EXACT [OMIM:601705]
synonym: "winged helix deficiency" EXACT [DOID:0060769, Orphanet:169095]
xref: DOID:0060769 {source="MONDO:equivalentTo"}
xref: GARD:4358 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="DOID:0060769", source="Orphanet:169095/attributed", source="Orphanet:169095/ntbt", source="Orphanet:169095"}
xref: MEDGEN:355713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536781 {source="MONDO:equivalentTo"}
xref: OMIM:601705 {source="Orphanet:169095/e", source="MONDO:equivalentTo", source="DOID:0060769", source="Orphanet:169095"}
xref: Orphanet:169095 {source="MONDO:equivalentTo", source="DOID:0060769", source="OMIM:601705"}
xref: SCTID:720345008 {source="MONDO:equivalentTo"}
xref: UMLS:C1866426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355713"}
is_a: MONDO:0015974 {source="DOID:0060769", source="MESH:C536781"} ! severe combined immunodeficiency
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12765 {source="MONDO:mim2gene_medgen"} ! FOXN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy" xsd:anyURI {source="GARD:0004358"}

[Term]
id: MONDO:0011133
name: deaf blind hypopigmentation syndrome, Yemenite type
def: "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss." [Orphanet:3214]
subset: gard_rare {source="GARD:5535", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3214"}
subset: ordo_malformation_syndrome {source="Orphanet:3214"}
subset: orphanet_rare {source="Orphanet:3214"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Warburg Thomsen syndrome" RELATED [GARD:0005535]
synonym: "Warburg-Thomsen syndrome" EXACT [Orphanet:3214]
synonym: "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" RELATED [GARD:0005535]
synonym: "Yemenite deaf-blind hypopigmentation syndrome" EXACT [OMIM:601706, Orphanet:3214]
xref: GARD:5535 {source="MONDO:GARD"}
xref: MEDGEN:355712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536771 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"}
xref: OMIM:601706 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"}
xref: Orphanet:3214 {source="MONDO:equivalentTo", source="OMIM:601706"}
xref: SCTID:721084001 {source="MONDO:equivalentTo"}
xref: UMLS:C1866425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355712"}
is_a: MONDO:0019290 {source="MESH:C536771", source="Orphanet:3214"} ! hypopigmentation of the skin

[Term]
id: MONDO:0011134
name: Curry-Jones syndrome
def: "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported." [Orphanet:1553]
subset: gard_rare {source="GARD:5584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1553"}
subset: ordo_malformation_syndrome {source="Orphanet:1553"}
subset: orphanet_rare {source="Orphanet:1553"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corpus callosum agenesis polysyndactyly" RELATED [GARD:0005584]
synonym: "corpus callosum agenesis-polysyndactyly syndrome" EXACT [Orphanet:1553]
synonym: "craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development" RELATED [OMIM:601707]
synonym: "CRJS" RELATED ABBREVIATION [OMIM:601707]
synonym: "curry Jones syndrome" RELATED [GARD:0005584]
synonym: "curry-JONES syndrome" RELATED [OMIM:601707]
synonym: "curry-Jones syndrome" EXACT [OMIM:601707]
synonym: "Curry-Jones syndrome, somatic mosaic" EXACT [OMIM:601707, OMIM:genemap2]
xref: GARD:5584 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1553/attributed", source="Orphanet:1553/ntbt", source="Orphanet:1553"}
xref: MEDGEN:167083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536735 {source="MONDO:equivalentTo"}
xref: OMIM:601707 {source="Orphanet:1553", source="MONDO:equivalentTo", source="Orphanet:1553/e"}
xref: Orphanet:1553 {source="MONDO:equivalentTo", source="OMIM:601707"}
xref: SCTID:720819006 {source="MONDO:equivalentTo"}
xref: UMLS:C0795915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167083"}
is_a: MONDO:0015160 {source="Orphanet:1553"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015338 {source="Orphanet:1553"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11119 {source="MONDO:mim2gene_medgen"} ! SMO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome" xsd:anyURI {source="GARD:0005584"}

[Term]
id: MONDO:0011135
name: superior transverse scapular ligament, calcification of, familial
synonym: "superior transverse scapular ligament, calcification of, familial" EXACT [OMIM:601708]
xref: MEDGEN:355711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566638 {source="MONDO:equivalentTo"}
xref: OMIM:601708 {source="MONDO:equivalentTo"}
xref: UMLS:C1866424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355711"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011136
name: Quebec platelet disorder
def: "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." [Orphanet:220436]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8345", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:220436"}
subset: orphanet_rare {source="Orphanet:220436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT5" EXACT ABBREVIATION [DOID:0111050]
synonym: "bleeding disorder, platelet-type, 5" RELATED [OMIM:601709]
synonym: "factor 5 Quebec" RELATED [OMIM:601709]
synonym: "factor V Quebec" EXACT [DOID:0111050, Orphanet:220436]
synonym: "platelet-type bleeding disorder 5" EXACT [DOID:0111050]
synonym: "QPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601709]
synonym: "Quebec platelet disorder" EXACT [MONDO:Lexical, OMIM:601709]
xref: DOID:0111050 {source="MONDO:equivalentTo"}
xref: GARD:8345 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="DOID:0111050", source="Orphanet:220436", source="Orphanet:220436/attributed", source="Orphanet:220436/ntbt"}
xref: MEDGEN:356528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536260 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"}
xref: OMIM:601709 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"}
xref: Orphanet:220436 {source="OMIM:601709", source="DOID:0111050", source="MONDO:equivalentTo"}
xref: UMLS:C1866423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356528"}
is_a: MONDO:0000009 {source="DC-OMIM:601709", source="MONDO:Redundant", source="OMIM:601709"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0020117 {source="Orphanet:220436"} ! alpha granule disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9052 {source="MONDO:mim2gene_medgen"} ! PLAU
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder" xsd:anyURI {source="GARD:0008345"}

[Term]
id: MONDO:0011137
name: retinitis pigmentosa 19
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ABCA4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 19" EXACT [MONDO:Lexical, OMIM:601718]
synonym: "retinitis pigmentosa caused by mutation in ABCA4" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 19" EXACT [DOID:0110354, MONDORULE:2, OMIM:601718]
synonym: "RP 19" RELATED [GARD:0010398]
synonym: "RP19" EXACT ABBREVIATION [DOID:0110354, MONDO:Lexical, OMIM:601718]
xref: DOID:0110354 {source="MONDO:equivalentTo"}
xref: GARD:10398 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110354"}
xref: MEDGEN:400996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566637 {source="MONDO:equivalentTo"}
xref: OMIM:601718 {source="MONDO:equivalentTo", source="DOID:0110354"}
xref: Orphanet:791 {source="OMIM:601718"}
xref: UMLS:C1866422 {source="MEDGEN:400996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:601718", source="DOID:0110354", source="MESH:C566637", source="MONDO:Redundant", source="OMIM:601718"} ! retinitis pigmentosa
is_a: MONDO:0800406 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 ! ABCA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="MONDO:mim2gene_medgen"} ! ABCA4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10398/retinitis-pigmentosa-19" xsd:anyURI {source="GARD:0010398"}

[Term]
id: MONDO:0011138
name: systemic lupus erythematosus, susceptibility to, 1
def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "SLEB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601744]
synonym: "susceptibility to systemic lupus erythematosus 1" EXACT [OMIM:601744]
synonym: "systemic lupus erythematosus (disease) caused by mutation in TLR5" EXACT []
synonym: "systemic lupus erythematosus, resistance to" EXACT [OMIM:601744, OMIM:genemap2]
synonym: "systemic lupus erythematosus, resistance to, 1" EXACT [OMIM:601744]
synonym: "systemic lupus erythematosus, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:601744]
synonym: "systemic lupus erythematosus, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:601744]
synonym: "TLR5 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:355700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601744 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:601744"}
xref: UMLS:C1866373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355700"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11851 ! TLR5
intersection_of: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11851 {source="MONDO:mim2gene_medgen"} ! TLR5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011139
name: preaxial hallucal polydactyly
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "preaxial hallucal polydactyly" EXACT [OMIM:601759]
xref: MEDGEN:356507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566632 {source="MONDO:equivalentTo"}
xref: OMIM:601759 {source="MONDO:equivalentTo"}
xref: Orphanet:1926 {source="OMIM:601759"}
xref: UMLS:C1866339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356507"}
is_a: MONDO:0016018 {source="Orphanet:1926/btnt"} ! diabetic embryopathy

[Term]
id: MONDO:0011140
name: obsolete benign familial neonatal-infantile seizures
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4073" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011904

[Term]
id: MONDO:0011141
name: megaloblastic anemia, folate-responsive
synonym: "folate level in erythrocytes" EXACT [OMIM:601775]
synonym: "MEGAF" EXACT ABBREVIATION [OMIM:601775]
xref: MEDGEN:440842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601775 {source="MONDO:equivalentTo"}
xref: UMLS:C2749656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440842"}
is_a: MONDO:0003847 {source="OMIM:601775"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4170" xsd:anyURI

[Term]
id: MONDO:0011142
name: Ehlers-Danlos syndrome, musculocontractural type
def: "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." [Orphanet:2953]
subset: gard_rare {source="GARD:8486", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2953"}
subset: orphanet_rare {source="Orphanet:2953"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adducted thumb clubfoot syndrome" RELATED [GARD:0008486]
synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" RELATED [MESH:C000600608, OMIM:601776]
synonym: "adducted thumb-club foot syndrome" RELATED [GARD:0000545]
synonym: "adducted thumb-clubfoot syndrome" EXACT [MESH:C000600608, OMIM:601776, Orphanet:2953]
synonym: "adducted thumbs Dundar type" RELATED [MESH:C000600608]
synonym: "adducted thumbs-arthrogryposis syndrome, Dundar type" EXACT [Orphanet:2953]
synonym: "arthrogryposis, distal, with peculiar facies and hydronephrosis" RELATED [MESH:C000600608, OMIM:601776]
synonym: "ATCS" EXACT ABBREVIATION [MESH:C000600608, Orphanet:2953]
synonym: "autosomal recessive adducted thumb-club foot syndrome" RELATED [GARD:0008486]
synonym: "CHST14-related EDS" EXACT [Orphanet:2953]
synonym: "CHST14-related Ehlers-Danlos syndrome" EXACT [Orphanet:2953]
synonym: "D4ST1-deficient EDS" EXACT [Orphanet:2953]
synonym: "D4ST1-deficient Ehlers-Danlos syndrome" EXACT [Orphanet:2953]
synonym: "Dundar syndrome" RELATED [MESH:C000600608, OMIM:601776]
synonym: "EDS, arthrogryposic type" EXACT [Orphanet:2953]
synonym: "EDS, Kosho type" EXACT [Orphanet:2953]
synonym: "EDS, musculocontractural type" EXACT [Orphanet:2953]
synonym: "EDS6B, formerly" RELATED [MESH:C000600608]
synonym: "EDSMC" RELATED ABBREVIATION [MESH:C000600608]
synonym: "EDSmc" RELATED [OMIM:601776]
synonym: "EDSMC1" RELATED ABBREVIATION [MESH:C000600608, MONDO:Lexical, OMIM:601776]
synonym: "Ehlers-Danlos syndrome, arthrogryposic type" EXACT [Orphanet:2953]
synonym: "Ehlers-Danlos syndrome, Kosho type" EXACT [Orphanet:2953]
synonym: "Ehlers-Danlos syndrome, musculocontractural type 1" RELATED [MONDO:Lexical, OMIM:601776]
synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1" RELATED [MESH:C000600608, OMIM:601776]
synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, type VIB, formerly" RELATED [MESH:C000600608]
synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:601776]
synonym: "MCEDS" EXACT ABBREVIATION [Orphanet:2953]
synonym: "musculocontractural EDS" RELATED [GARD:0008486]
synonym: "musculocontractural Ehlers-Danlos syndrome" EXACT [Orphanet:2953]
xref: GARD:8486 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:2953", source="Orphanet:2953/attributed", source="Orphanet:2953/ntbt"}
xref: MEDGEN:356497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000600608 {source="MONDO:equivalentTo"}
xref: NANDO:1200652 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201262 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:2953 {source="MONDO:equivalentTo"}
xref: SCTID:720860004 {source="MONDO:equivalentTo"}
xref: UMLS:C1866294 {source="MEDGEN:356497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005267 {source="MONDO:0018290-obsoleted"} ! heart disorder
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0019942 {source="Orphanet:2953"} ! distal arthrogryposis
is_a: MONDO:0020066 {source="DC-OMIM:601776", source="MESH:C000600608", source="OMIM:601776", source="Orphanet:2953"} ! Ehlers-Danlos syndrome
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type" xsd:anyURI {source="GARD:0000545"}

[Term]
id: MONDO:0011143
name: cone-rod dystrophy 6
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10656", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 6" EXACT [MONDO:Lexical, OMIM:601777]
synonym: "cone-rod dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 6" EXACT [DOID:0111011, MONDORULE:1, OMIM:601777]
synonym: "CORD6" EXACT ABBREVIATION [DOID:0111011, MONDO:Lexical, OMIM:601777]
synonym: "GUCY2D cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCD2" EXACT ABBREVIATION [DOID:0111011, OMIM:601251, OMIM:601777]
synonym: "retinal cone dystrophy 2" EXACT [DOID:0111011, OMIM:601777]
xref: DOID:0111011 {source="MONDO:equivalentTo"}
xref: GARD:10656 {source="MONDO:GARD"}
xref: MEDGEN:400963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538363 {source="MONDO:equivalentTo"}
xref: OMIM:601777 {source="MONDO:equivalentTo", source="DOID:0111011"}
xref: UMLS:C1866293 {source="MEDGEN:400963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:601777", source="DOID:0111011", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D retinopathy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 ! GUCY2D
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="MONDO:mim2gene_medgen"} ! GUCY2D

[Term]
id: MONDO:0011144
name: ceroid lipofuscinosis, neuronal, 6A
def: "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6]
subset: gard_rare {source="GARD:1224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228363"}
subset: ordo_etiological_subtype {source="Orphanet:228363"}
subset: orphanet_rare {source="Orphanet:228363"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 6" RELATED [MONDO:Lexical, OMIM:601780]
synonym: "ceroid lipofuscinosis, neuronal, 6, variable age at onset" RELATED [OMIM:601780]
synonym: "ceroid lipofuscinosis, neuronal, type 6" EXACT [MONDORULE:1, OMIM:601780]
synonym: "CLN6" EXACT ABBREVIATION [DOID:0110729, MONDO:Lexical, OMIM:601780]
synonym: "CLN6 disease" RELATED [Orphanet:228363]
synonym: "CLN6 disease, adult Kufs type A (subtype)" RELATED [GARD:0001224]
synonym: "CLN6 disease, late infantile (subtype)" RELATED [GARD:0001224]
synonym: "CLN6 late infantile neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CLN6A" EXACT [OMIM:601780]
synonym: "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis 6" EXACT [DOID:0110729]
synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT [DOID:0110729]
synonym: "neuronal ceroid lipofuscinosis type 6" EXACT [DOID:0110729, MONDORULE:1]
synonym: "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant" RELATED [GARD:0001224]
synonym: "neuronal ceroid lipofuscinosis, late infantile, variant" EXACT [OMIM:601780]
synonym: "vLINCL" EXACT ABBREVIATION [OMIM:601780]
xref: DOID:0110729 {source="MONDO:equivalentTo"}
xref: GARD:1224 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110729", source="Orphanet:228363/attributed", source="Orphanet:228363/ntbt", source="Orphanet:228363"}
xref: MEDGEN:1790423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566627 {source="MONDO:equivalentTo"}
xref: OMIM:601780 {source="Orphanet:228363/e", source="MONDO:equivalentTo", source="DOID:0110729", source="Orphanet:228363"}
xref: Orphanet:168491 {source="OMIM:601780"}
xref: Orphanet:228363 {source="MONDO:equivalentTo", source="DOID:0110729", source="OMIM:601780"}
xref: Orphanet:79262 {source="OMIM:601780"}
xref: UMLS:C5551375 {source="MEDGEN:1790423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015674 {source="MONDO:Redundant", source="Orphanet:168491/btnt", source="Orphanet:228363"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0016295 {source="DOID:0110729", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:601780", source="Orphanet:228363/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019260 {source="MONDO:Redundant", source="Orphanet:228363", source="Orphanet:79262/btnt"} ! adult neuronal ceroid lipofuscinosis
intersection_of: MONDO:0015674 ! late infantile neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2077 ! CLN6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2077 {source="MONDO:mim2gene_medgen"} ! CLN6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6" xsd:anyURI {source="GARD:0001224"}

[Term]
id: MONDO:0011145
name: colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
subset: gard_rare {source="GARD:17575", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363741"}
subset: orphanet_rare {source="Orphanet:363741"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coloboma-obesity-hypogenitalism-intellectual disability syndrome" RELATED [OMIM:601794]
synonym: "coloboma-obesity-hypogenitalism-mental retardation syndrome" RELATED DEPRECATED [OMIM:601794]
xref: GARD:17575 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:363741", source="Orphanet:363741/attributed", source="Orphanet:363741/ntbt"}
xref: MEDGEN:400954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566623 {source="MONDO:equivalentTo"}
xref: OMIM:601794 {source="MONDO:equivalentTo", source="Orphanet:363741", source="Orphanet:363741/e"}
xref: Orphanet:363741 {source="OMIM:601794", source="MONDO:equivalentTo"}
xref: UMLS:C1866256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400954"}
is_a: MONDO:0015159 {source="Orphanet:363741"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0016073 {source="Orphanet:363741", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic microphthalmia

[Term]
id: MONDO:0011146
name: tetrasomy 12p
def: "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." [Orphanet:884]
subset: gard_rare {source="GARD:8421", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1546"}
subset: ordo_disorder {source="Orphanet:884"}
subset: ordo_malformation_syndrome {source="Orphanet:884"}
subset: orphanet_rare {source="Orphanet:884"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 12, Isochromosome 12p syndrome" RELATED [GARD:0008421]
synonym: "Hexasomy 12P, Mosaic" RELATED [OMIM:601803]
synonym: "Isochromosome 12p mosaicism" EXACT [Orphanet:884]
synonym: "Isochromosome 12P syndrome" RELATED [OMIM:601803]
synonym: "Isochromosome 12p syndrome" EXACT [Orphanet:884]
synonym: "Killian syndrome" RELATED [GARD:0008421]
synonym: "Killian Teschler-Nicola syndrome" RELATED [GARD:0008421]
synonym: "Pallister Killian Mosaic Syndrome" EXACT [NORD:1546]
synonym: "Pallister Killian syndrome" RELATED [GARD:0008421]
synonym: "Pallister mosaic syndrome" RELATED [GARD:0008421]
synonym: "Pallister-Killian mosaic syndrome" RELATED [GARD:0008421]
synonym: "Pallister-Killian syndrome" EXACT [MONDO:Lexical, OMIM:601803, Orphanet:884]
synonym: "Pallister-Killian syndrome, Somatic mosaicism" EXACT [OMIM:601803, OMIM:genemap2]
synonym: "PKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601803]
synonym: "Teschler-Nicola Killian syndrome" RELATED [GARD:0008421]
synonym: "tetrasomy 12P, Mosaic" RELATED [OMIM:601803]
synonym: "tetrasomy type 12p" EXACT [MONDORULE:4, Orphanet:884]
xref: GARD:8421 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:884", source="Orphanet:884/attributed", source="Orphanet:884/ntbt"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538105 {source="MONDO:equivalentTo"}
xref: NCIT:C75458 {source="MONDO:equivalentTo"}
xref: NORD:1546 {source="MONDO:NORD"}
xref: OMIM:601803 {source="Orphanet:884", source="MONDO:equivalentTo", source="Orphanet:884/e"}
xref: Orphanet:884 {source="MONDO:equivalentTo", source="OMIM:601803"}
xref: SCTID:9527009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265449 {source="MEDGEN:120540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75458"} ! syndromic disease
is_a: MONDO:0016933 {source="Orphanet:884"} ! partial trisomy/tetrasomy of the short arm of chromosome 12
is_a: MONDO:0019716 ! overgrowth syndrome
relationship: disease_arises_from_structure CHR:9606-chr12p {source="https://orcid.org/0000-0002-4142-7153"} ! 12p (Human)
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011147
name: chromosome 18q deletion syndrome
def: "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." [NCIT:C84522]
subset: disease_grouping
subset: gard_rare {source="GARD:10865", source="MONDO:GARD"}
subset: nord_rare {source="NORD:946", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1600"}
subset: ordo_group_of_disorders {source="Orphanet:262146"}
subset: ordo_malformation_syndrome {source="Orphanet:1600"}
subset: orphanet_rare {source="Orphanet:1600"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "18q deletion syndrome" EXACT [NCIT:C84522]
synonym: "18Q syndrome" EXACT [NCIT:C84522]
synonym: "18Q- syndrome" RELATED [OMIM:601808]
synonym: "18q-syndrome" EXACT [DOID:0060407, NCIT:C84522, Orphanet:1600]
synonym: "chromosome 18q deletion" RELATED [GARD:0013000]
synonym: "chromosome 18q deletion syndrome" EXACT [OMIM:601808]
synonym: "Chromosome 18q- Syndrome" EXACT [NORD:946]
synonym: "chromosome 18Q- syndrome" RELATED [OMIM:601808]
synonym: "deletion 18q" EXACT [DOID:0060407, Orphanet:1600]
synonym: "deletion 18q syndrome" EXACT [NCIT:C84522]
synonym: "monosomy 18q" EXACT [DOID:0060407]
synonym: "monosomy 18q syndrome" RELATED [GARD:0010866]
synonym: "monosomy type 18q" EXACT [MONDORULE:4, Orphanet:1600]
synonym: "partial deletion of chromosome 18q" EXACT [Orphanet:262146]
synonym: "partial deletion of the long arm of chromosome 18" EXACT [MONDO:0016916]
synonym: "partial deletion of the long arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262146]
synonym: "partial monosomy of chromosome 18q" EXACT [Orphanet:262146]
synonym: "partial monosomy of the long arm of chromosome 18" EXACT [Orphanet:262146]
synonym: "proximal 18q deletion" NARROW [GARD:0010866]
synonym: "proximal 18q deletion syndrome" NARROW [GARD:0010866]
synonym: "proximal 18q-" NARROW [GARD:0010866]
synonym: "proximal chromosome 18q deletion syndrome" NARROW [GARD:0010866]
xref: DOID:0060407 {source="MONDO:equivalentTo"}
xref: GARD:10865 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1600", source="Orphanet:262146", source="DOID:0060407", source="Orphanet:1600/attributed", source="Orphanet:1600/ntbt", source="Orphanet:262146/attributed", source="Orphanet:262146/ntbt"}
xref: icd11.foundation:1121828795 {source="MONDO:equivalentTo", source="Orphanet:262146", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536580 {source="MONDO:equivalentTo", source="DOID:0060407"}
xref: NANDO:1200579 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201291 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84522 {source="MONDO:equivalentTo"}
xref: NORD:946 {source="MONDO:NORD"}
xref: OMIM:601808 {source="MONDO:equivalentTo", source="Orphanet:1600", source="Orphanet:1600/e", source="DOID:0060407"}
xref: Orphanet:1600 {source="OMIM:601808", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0060407"}
xref: Orphanet:262146 {source="MONDO:equivalentTo"}
xref: SCTID:270889005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432443 {source="MEDGEN:96605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:601808", source="DOID:0060407"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84522"} ! syndromic disease
is_a: MONDO:0016880 {source="Orphanet:262146"} ! partial deletion of chromosome 18
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr18q ! 18q (Human)
relationship: disease_has_major_feature MONDO:0005129 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! cataract
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1600", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1600", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0011148
name: Spondylospinal thoracic dysostosis
def: "Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life." [https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis]
synonym: "spondylospinal thoracic dysostosis" EXACT [OMIM:601809]
xref: MEDGEN:400937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566622 {source="MONDO:equivalentTo"}
xref: OMIM:601809 {source="MONDO:equivalentTo"}
xref: UMLS:C1866184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400937"}
is_a: MONDO:0003847 {source="MESH:C566622/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis" xsd:anyURI {source="GARD:0010571"}

[Term]
id: MONDO:0011149
name: premature aging syndrome, Okamoto type
subset: gard_rare {source="GARD:4478", source="MONDO:GARD"}
subset: rare
synonym: "premature ageing Okamoto type" RELATED OMO:0003005 []
synonym: "premature ageing syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay" RELATED OMO:0003005 []
synonym: "premature aging Okamoto type" RELATED [GARD:0004478]
synonym: "premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay" RELATED [GARD:0004478]
synonym: "premature aging syndrome, Okamoto type" EXACT [OMIM:601811]
xref: GARD:4478 {source="MONDO:GARD"}
xref: MEDGEN:356468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566621 {source="MONDO:equivalentTo"}
xref: OMIM:601811 {source="MONDO:equivalentTo"}
xref: UMLS:C1866183 {source="MEDGEN:356468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019303 {source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome

[Term]
id: MONDO:0011150
name: acroosteolysis-keloid-like lesions-premature aging syndrome
subset: gard_rare {source="GARD:4276", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363665"}
subset: orphanet_rare {source="Orphanet:363665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PENTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601812]
synonym: "Penttinen-aula syndrome" RELATED [GARD:0004276]
synonym: "premature ageing syndrome Penttinen type" RELATED OMO:0003005 []
synonym: "premature ageing syndrome, Penttinen type" EXACT OMO:0003005 []
synonym: "premature aging syndrome Penttinen type" RELATED [GARD:0004276]
synonym: "premature aging syndrome, Penttinen type" EXACT [GARD:0004498, MONDO:Lexical, OMIM:601812, Orphanet:363665]
synonym: "prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly" RELATED [GARD:0004276]
synonym: "progeroid syndrome, Penttinen type" RELATED [GARD:0004498]
xref: GARD:4276 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:363665", source="Orphanet:363665/attributed", source="Orphanet:363665/ntbt"}
xref: MEDGEN:400936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536653 {source="MONDO:equivalentTo"}
xref: OMIM:601812 {source="GARD:0004498", source="MONDO:equivalentTo", source="Orphanet:363665", source="Orphanet:363665/e", source="GARD:0004276"}
xref: Orphanet:363665 {source="MONDO:equivalentTo", source="OMIM:601812"}
xref: UMLS:C1866182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400936"}
is_a: MONDO:0019303 {source="Orphanet:363665"} ! premature aging syndrome
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:363665", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI

[Term]
id: MONDO:0011151
name: exudative vitreoretinopathy 4
subset: gard_rare {source="GARD:15337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EVR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601813]
synonym: "exudative vitreoretinopathy 4" EXACT [MONDO:Lexical, OMIM:601813]
synonym: "exudative vitreoretinopathy type 4" EXACT [MONDORULE:1, OMIM:601813]
xref: DOID:0111411 {source="MONDO:equivalentTo"}
xref: GARD:15337 {source="MONDO:GARD"}
xref: MEDGEN:356171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566619 {source="MONDO:equivalentTo"}
xref: OMIM:601813 {source="MONDO:equivalentTo"}
xref: Orphanet:891 {source="OMIM:601813"}
xref: UMLS:C1866176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356171"}
is_a: MONDO:0019516 {source="DC-OMIM:601813", source="OMIM:601813"} ! exudative vitreoretinopathy
is_a: MONDO:0700228 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! LRP5-related exudative vitreoretinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0011152
name: PHGDH deficiency
def: "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" [Orphanet:79351]
subset: gard_rare {source="GARD:16718", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" RELATED [Orphanet:79351]
synonym: "PHGDH deficiency" EXACT [OMIM:601815]
synonym: "PHGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601815]
synonym: "PHOSPHOGLYCERATE dehydrogenase deficiency" EXACT [DOID:0050722, MONDO:Lexical, OMIM:601815]
xref: DOID:0050722 {source="MONDO:equivalentTo"}
xref: GARD:16718 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:79351", source="Orphanet:79351/attributed", source="Orphanet:79351/ntbt"}
xref: MEDGEN:400935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566618 {source="MONDO:equivalentTo"}
xref: OMIM:601815 {source="DOID:0050722", source="MONDO:equivalentTo", source="Orphanet:79351", source="Orphanet:79351/e"}
xref: Orphanet:79351 {source="MONDO:equivalentTo", source="OMIM:601815"}
xref: UMLS:C1866174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400935"}
is_a: MONDO:0018491 {source="Orphanet:79351"} ! 3-phosphoglycerate dehydrogenase deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:79351", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8923 {source="MONDO:mim2gene_medgen"} ! PHGDH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011153
name: hyperinsulinemic hypoglycemia, familial, 2
def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HHF2" RELATED ABBREVIATION [GARD:0009927, MONDO:Lexical, OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hyperinsulinemic hypoglycemia familial 2" RELATED [GARD:0009927]
synonym: "hyperinsulinemic hypoglycemia, familial, 2" EXACT [MONDO:Lexical, OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia, familial, type 2" EXACT [MONDORULE:1, OMIM:601820]
synonym: "hyperinsulinemic hypoglycemia, persistent" RELATED [OMIM:601820]
synonym: "hyperinsulinism, congenital" RELATED [OMIM:601820]
synonym: "hyperinsulinism, familial" RELATED [OMIM:601820]
synonym: "hyperinsulinism, neonatal" RELATED [OMIM:601820]
synonym: "KCNJ11 hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nesidioblastosis" RELATED [OMIM:601820]
synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [OMIM:601820]
xref: DOID:0070218 {source="MONDO:equivalentTo"}
xref: GARD:9927 {source="MONDO:GARD"}
xref: MEDGEN:419173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601820 {source="MONDO:equivalentTo", source="GARD:0009927"}
xref: Orphanet:276580 {source="OMIM:601820"}
xref: Orphanet:276603 {source="OMIM:601820"}
xref: Orphanet:79644 {source="OMIM:601820"}
xref: UMLS:C2931833 {source="MONDO:equivalentTo", source="MEDGEN:419173", source="MONDO:MEDGEN"}
is_a: MONDO:0005803 {source="DC-OMIM:601820", source="MONDO:Redundant"} ! hyperinsulinemic hypoglycemia
is_a: MONDO:0019010 ! congenital isolated hyperinsulinism
intersection_of: MONDO:0005803 ! hyperinsulinemic hypoglycemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 ! KCNJ11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 {source="MONDO:mim2gene_medgen"} ! KCNJ11
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2" xsd:anyURI {source="GARD:0009927"}

[Term]
id: MONDO:0011154
name: acrofacial dysostosis, Palagonia type
def: "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." [Orphanet:1787]
subset: gard_rare {source="GARD:499", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1787"}
subset: ordo_malformation_syndrome {source="Orphanet:1787"}
subset: orphanet_rare {source="Orphanet:1787"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrofacial dysostosis Palagonia type" RELATED [GARD:0000499]
synonym: "acrofacial dysostosis, Palagonia type" EXACT [OMIM:601829]
synonym: "acrofacial dysostosis, Patagonia type" EXACT MISSPELLING [DOID:0060385]
synonym: "AFD- Palagonia type" RELATED [GARD:0000499]
synonym: "PAFD" RELATED ABBREVIATION [GARD:0000499]
synonym: "Palagonia form of AFD" RELATED [GARD:0000499]
synonym: "Palagonia type of acrofacial dysostosis" EXACT [MESH:C538185]
xref: DOID:0060385 {source="MONDO:equivalentTo"}
xref: GARD:499 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:1787", source="Orphanet:1787/attributed", source="Orphanet:1787/ntbt"}
xref: MEDGEN:355645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538185 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"}
xref: OMIM:601829 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"}
xref: Orphanet:1787 {source="DOID:0060385", source="MONDO:equivalentTo", source="OMIM:601829"}
xref: SCTID:720429007 {source="MONDO:equivalentTo"}
xref: UMLS:C1866168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355645"}
is_a: MONDO:0018237 {source="DC-OMIM:601829", source="DOID:0060385", source="Orphanet:1787"} ! acrofacial dysostosis

[Term]
id: MONDO:0011155
name: vacuolar Neuromyopathy
synonym: "muscular dystrophy with rimmed vacuoles" EXACT [OMIM:601846, OMIM:genemap2]
synonym: "muscular dystrophy, autosomal dominant, with rimmed vacuoles" RELATED [OMIM:601846]
synonym: "vacuolar Neuromyopathy" EXACT [OMIM:601846]
xref: MEDGEN:355637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566617 {source="MONDO:equivalentTo"}
xref: OMIM:601846 {source="MONDO:equivalentTo"}
xref: UMLS:C1866139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355637"}
is_a: MONDO:0003847 {source="MESH:C566617/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011156
name: progressive familial intrahepatic cholestasis type 2
def: "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." [Orphanet:79304]
subset: gard_rare {source="GARD:1288", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79304"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABCB11 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "BSEP deficiency" EXACT [Orphanet:79304]
synonym: "cholestasis, progressive familial intrahepatic 2" EXACT [OMIM:601847, OMIM:genemap2]
synonym: "cholestasis, progressive familial intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:601847]
synonym: "cholestasis, progressive familial intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:601847]
synonym: "PFIC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601847, Orphanet:79304]
synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB11" EXACT [MONDO:design_pattern]
synonym: "progressive familial intrahepatic cholestasis type 2" EXACT CLINGEN_LABEL []
synonym: "severe ABCB11 deficiency" RELATED [GARD:0001288]
xref: DOID:0070222 {source="MONDO:equivalentTo"}
xref: GARD:1288 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:79304", source="Orphanet:79304/attributed", source="Orphanet:79304/ntbt"}
xref: MEDGEN:483742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535934 {source="Orphanet:79304", source="Orphanet:79304/e"}
xref: NANDO:1201044 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:601847 {source="Orphanet:79304", source="MONDO:equivalentTo", source="Orphanet:79304/e"}
xref: Orphanet:172 {source="OMIM:601847"}
xref: Orphanet:79304 {source="MONDO:equivalentTo", source="OMIM:601847"}
xref: UMLS:C3489789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483742"}
is_a: MONDO:0011559 ! benign recurrent intrahepatic cholestasis type 2
is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:601847", source="Orphanet:79304"} ! progressive familial intrahepatic cholestasis
intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/42 ! ABCB11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/42 {source="MONDO:mim2gene_medgen"} ! ABCB11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2" xsd:anyURI {source="GARD:0001288"}

[Term]
id: MONDO:0011157
name: Gomez-Lopez-Hernandez syndrome
def: "A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported." [Orphanet:1532]
subset: gard_rare {source="GARD:229", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1532"}
subset: ordo_malformation_syndrome {source="Orphanet:1532"}
subset: orphanet_rare {source="Orphanet:1532"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cerebellotrigeminal dermal dysplasia" RELATED [GARD:0000229]
synonym: "Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia" RELATED [OMIM:601853]
synonym: "Cerebellotrigeminal-dermal dysplasia" RELATED [GARD:0000229]
synonym: "Cerebellotrigeminal-dermal dysplasia syndrome" EXACT [GARD:0000229, Orphanet:1532]
synonym: "craniosynostosis-alopecia-brain defect syndrome" EXACT [GARD:0000229, Orphanet:1532]
synonym: "GLHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601853]
synonym: "Gomez Lopez Hernandez syndrome" RELATED [GARD:0000229]
synonym: "GOMEZ-LOPEZ-HERNANDEZ syndrome" RELATED [OMIM:601853]
synonym: "Gomez-Lopez-Hernandez syndrome" EXACT [MONDO:Lexical, OMIM:601853]
synonym: "Gomez-Lopez-Hernández syndrome" RELATED [GARD:0000229]
synonym: "Gómez-López-Hernández syndrome" RELATED [Orphanet:1532]
xref: GARD:229 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:1532/attributed", source="Orphanet:1532/ntbt", source="Orphanet:1532"}
xref: MEDGEN:163201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537285 {source="MONDO:equivalentTo"}
xref: OMIM:601853 {source="Orphanet:1532", source="MONDO:equivalentTo", source="Orphanet:1532/e", source="GARD:0000229"}
xref: Orphanet:1532 {source="MONDO:equivalentTo", source="OMIM:601853", source="GARD:0000229"}
xref: SCTID:722451006 {source="MONDO:equivalentTo"}
xref: UMLS:C0795959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163201"}
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1532", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome" xsd:anyURI {source="GARD:0000229"}

[Term]
id: MONDO:0011158
name: autoimmune lymphoproliferative syndrome type 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome" RELATED [MONDO:Lexical, OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome type 1" EXACT CLINGEN_LABEL []
synonym: "autoimmune lymphoproliferative syndrome, type 1A" NARROW [OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome, type 1B" NARROW [OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome, type I, autosomal dominant" RELATED [OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome, type I, autosomal recessive" RELATED [OMIM:601859]
synonym: "autoimmune lymphoproliferative syndrome, type IA" EXACT [OMIM:601859, OMIM:genemap2]
synonym: "autoimmune lymphoproliferative syndrome, type IB" EXACT [OMIM:601859, OMIM:genemap2]
synonym: "Canale-Smith syndrome" RELATED [OMIM:601859]
xref: ICD9:279.41 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:231300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601859 {source="MONDO:equivalentTo"}
xref: Orphanet:3261 {source="OMIM:601859"}
xref: SCTID:702444009 {source="MONDO:equivalentTo"}
xref: UMLS:C1328840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231300"}
is_a: MONDO:0017979 {source="DC-OMIM:601859"} ! autoimmune lymphoproliferative syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011159
name: autosomal dominant nonsyndromic hearing loss 13
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 13" NARROW [DOID:0110545]
synonym: "autosomal dominant nonsyndromic deafness 13" NARROW [OMIM:601868]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COL11A2" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 13" NARROW [DOID:0110545, MONDORULE:2]
synonym: "COL11A2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 13" NARROW [MONDO:Lexical, OMIM:601868, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 13" NARROW [MONDORULE:2, OMIM:601868]
synonym: "DFNA13" NARROW ABBREVIATION [DOID:0110545, MONDO:Lexical, OMIM:601868]
xref: DOID:0110545 {source="MONDO:equivalentTo"}
xref: GARD:18108 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110545"}
xref: MEDGEN:400917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566612 {source="MONDO:equivalentTo"}
xref: OMIM:601868 {source="DOID:0110545", source="MONDO:equivalentTo"}
xref: UMLS:C1866095 {source="MEDGEN:400917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:601868", source="DOID:0110545", source="MONDO:Redundant", source="OMIM:601868"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 ! COL11A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011160
name: autosomal recessive nonsyndromic hearing loss 15
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 15" NARROW [DOID:0110470]
synonym: "autosomal recessive deafness 72" NARROW [DOID:0110470]
synonym: "autosomal recessive deafness 95" NARROW [DOID:0110470]
synonym: "autosomal recessive nonsyndromic deafness 15" NARROW [OMIM:601869]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GIPC3" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 15" NARROW [DOID:0110470, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 15" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 15" NARROW [MONDO:Lexical, OMIM:601869, OMIM:genemap2]
synonym: "deafness, autosomal recessive 72" NARROW [OMIM:601869]
synonym: "deafness, autosomal recessive 95" NARROW [OMIM:601869]
synonym: "deafness, autosomal recessive type 15" NARROW [MONDORULE:2, OMIM:601869]
synonym: "DFNB15" NARROW ABBREVIATION [DOID:0110470, MONDO:Lexical, OMIM:601869]
synonym: "DFNB72" NARROW ABBREVIATION [DOID:0110470]
synonym: "DFNB95" NARROW ABBREVIATION [DOID:0110470]
synonym: "GIPC3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110470 {source="MONDO:equivalentTo"}
xref: GARD:22591 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110470"}
xref: MEDGEN:355626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566611 {source="MONDO:equivalentTo"}
xref: OMIM:601869 {source="MONDO:equivalentTo", source="DOID:0110470"}
xref: UMLS:C1866094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355626"}
is_a: MONDO:0019588 {source="DC-OMIM:601869", source="DOID:0110470", source="MONDO:Redundant", source="OMIM:601869"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18183 ! GIPC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18183 {source="MONDO:mim2gene_medgen"} ! GIPC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011161
name: sperm-specific antigen 1
synonym: "fertilisation antigen 1" RELATED OMO:0003005 []
synonym: "fertilization antigen 1" RELATED [OMIM:601876]
synonym: "sperm-specific antigen 1" EXACT [MONDO:Lexical, OMIM:601876]
synonym: "sperm-specific antigen type 1" EXACT [MONDORULE:1, OMIM:601876]
synonym: "SSFA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601876]
xref: MEDGEN:244171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601876 {source="MONDO:equivalentTo"}
xref: UMLS:C1420425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:244171"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011162
name: cataract 14 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAE3" NARROW ABBREVIATION [DOID:0110253]
synonym: "Cae3" RELATED [OMIM:601885]
synonym: "cataract 14, multiple types" RELATED [MONDO:Lexical, OMIM:601885]
synonym: "cataract, zonular pulverulent 3" RELATED [OMIM:601885]
synonym: "CTRCT14" EXACT ABBREVIATION [DOID:0110253, MONDO:Lexical, OMIM:601885]
synonym: "CZP3" NARROW ABBREVIATION [DOID:0110253]
synonym: "early-onset non-syndromic cataract caused by mutation in GJA3" EXACT [MONDO:design_pattern]
synonym: "GJA3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "zonular pulverulent cataract 3" NARROW [DOID:0110253]
xref: DOID:0110253 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110253"}
xref: MEDGEN:356152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566608 {source="MONDO:equivalentTo"}
xref: OMIM:601885 {source="MONDO:equivalentTo", source="DOID:0110253"}
xref: Orphanet:91492 {source="OMIM:601885"}
xref: Orphanet:98984 {source="OMIM:601885", source="MONDO:directSiblingOf"}
xref: Orphanet:98986 {source="OMIM:601885"}
xref: Orphanet:98991 {source="MONDO:relatedTo", source="OMIM:601885"}
xref: Orphanet:98993 {source="MONDO:relatedTo", source="OMIM:601885"}
xref: UMLS:C1866078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356152"}
is_a: MONDO:0005129 {source="DOID:0110253", source="MESH:C566608", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:601885"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4277 ! GJA3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4277 {source="MONDO:mim2gene_medgen"} ! GJA3

[Term]
id: MONDO:0011163
name: malignant hyperthermia, susceptibility to, 5
def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CACNA1S malignant hyperthermia of anaesthesia" EXACT OMO:0003005 []
synonym: "CACNA1S malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "malignant hyperpyrexia susceptibility type 5" RELATED [GARD:0003367, MESH:C535698]
synonym: "malignant hyperthermia of anaesthesia caused by mutation in CACNA1S" EXACT OMO:0003005 []
synonym: "malignant hyperthermia of anesthesia caused by mutation in CACNA1S" EXACT [MONDO:design_pattern]
synonym: "malignant hyperthermia susceptibility 5" EXACT [OMIM:601887, OMIM:genemap2]
synonym: "malignant hyperthermia susceptibility type 5" RELATED [GARD:0003367]
synonym: "malignant hyperthermia, susceptibility to, 5" EXACT CLINGEN_LABEL [MESH:C535698, OMIM:601887]
synonym: "malignant hyperthermia, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:601887]
synonym: "MHS5" RELATED ABBREVIATION [GARD:0003367, MESH:C535698]
synonym: "Mhs5" RELATED [OMIM:601887]
synonym: "susceptibility to malignant hyperthermia 5" RELATED [OMIM:601887]
xref: MEDGEN:356151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535698 {source="MONDO:equivalentTo"}
xref: OMIM:601887 {source="GARD:0003367", source="MONDO:equivalentTo"}
xref: Orphanet:423 {source="GARD:0003367", source="OMIM:601887"}
xref: UMLS:C1866077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356151"}
is_a: MONDO:0800188 {source="DC-OMIM:601887", source="MESH:C535698", source="MONDO:Redundant", source="OMIM:601887"} ! malignant hyperthermia, susceptibility to
intersection_of: MONDO:0800188 ! malignant hyperthermia, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1397 ! CACNA1S
intersection_of: predisposes_towards MONDO:0018493 ! malignant hyperthermia of anesthesia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1397 {source="MONDO:mim2gene_medgen"} ! CACNA1S
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5" xsd:anyURI {source="GARD:0003367"}

[Term]
id: MONDO:0011164
name: malignant hyperthermia, susceptibility to, 6
subset: predisposition
synonym: "malignant hyperpyrexia susceptibility type 6" RELATED [GARD:0003368, MESH:C535699]
synonym: "malignant hyperthermia susceptibility 6" EXACT [OMIM:601888, OMIM:genemap2]
synonym: "malignant hyperthermia susceptibility type 6" RELATED [GARD:0003368]
synonym: "malignant hyperthermia, susceptibility to, 6" EXACT [MESH:C535699, OMIM:601888]
synonym: "malignant hyperthermia, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:601888]
synonym: "MHS6" RELATED ABBREVIATION [GARD:0003368, MESH:C535699]
synonym: "Mhs6" RELATED [OMIM:601888]
xref: MEDGEN:356150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535699 {source="MONDO:equivalentTo"}
xref: OMIM:601888 {source="GARD:0003368", source="MONDO:equivalentTo"}
xref: Orphanet:423 {source="GARD:0003368", source="OMIM:601888"}
xref: UMLS:C1866076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356150"}
is_a: MONDO:0800188 {source="DC-OMIM:601888", source="MESH:C535699", source="OMIM:601888"} ! malignant hyperthermia, susceptibility to
relationship: predisposes_towards MONDO:0018493 {source="OMIM:601888"} ! malignant hyperthermia of anesthesia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6" xsd:anyURI {source="GARD:0003368"}

[Term]
id: MONDO:0011165
name: glomerulopathy with fibronectin deposits 2
def: "Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibronectin glomerulopathy" RELATED [OMIM:601894]
synonym: "fibronectin glomerulopathy caused by mutation in FN1" EXACT [MONDO:design_pattern]
synonym: "FN1 fibronectin glomerulopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GFND2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601894]
synonym: "glomerular nephritis familial with fibronectin deposits" RELATED [GARD:0009914]
synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [OMIM:601894]
synonym: "glomerulopathy with fibronectin deposits 2" EXACT [MONDO:Lexical, OMIM:601894]
synonym: "glomerulopathy with fibronectin deposits type 2" EXACT [MONDORULE:1, OMIM:601894]
xref: GARD:9914 {source="MONDO:GARD"}
xref: MEDGEN:356149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601894 {source="MONDO:equivalentTo"}
xref: Orphanet:84090 {source="OMIM:601894"}
xref: SCTID:722759007 {source="MONDO:equivalentTo"}
xref: UMLS:C1866075 {source="MEDGEN:356149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007671 {source="MONDO:Redundant", source="OMIM:601894", source="Orphanet:84090/btnt"} ! fibronectin glomerulopathy
intersection_of: MONDO:0007671 ! fibronectin glomerulopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 ! FN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 {source="MONDO:mim2gene_medgen"} ! FN1

[Term]
id: MONDO:0011166
name: lymphedema-atrial septal defects-facial changes syndrome
def: "Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive." [Orphanet:86915]
subset: gard_rare {source="GARD:284", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86915"}
subset: ordo_malformation_syndrome {source="Orphanet:86915"}
subset: orphanet_rare {source="Orphanet:86915"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539]
synonym: "Irons Bhan syndrome" RELATED [GARD:0000284]
synonym: "Irons-Bhan syndrome" EXACT [Orphanet:86915]
synonym: "Irons-Bianchi syndrome" EXACT [OMIM:601927, Orphanet:86915]
synonym: "lymphedema, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539]
synonym: "lymphedema, atrial septal defect, and characteristic facies" RELATED [OMIM:601927]
synonym: "lymphedema, CARDIAC septal defects, and characteristic facies" RELATED [OMIM:601927]
xref: GARD:284 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:86915", source="Orphanet:86915/attributed", source="Orphanet:86915/ntbt"}
xref: MEDGEN:383042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535539 {source="MONDO:equivalentTo"}
xref: MESH:C567398 {source="MONDO:equivalentTo"}
xref: OMIM:601927 {source="Orphanet:86915/e", source="MONDO:equivalentTo", source="Orphanet:86915", source="GARD:0000284"}
xref: Orphanet:86915 {source="MONDO:equivalentTo", source="OMIM:601927"}
xref: SCTID:721978002 {source="MONDO:equivalentTo"}
xref: UMLS:C2677167 {source="MEDGEN:383042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
is_a: MONDO:0019297 {source="MESH:C535539", source="MESH:C567398", source="MONDO:Redundant", source="Orphanet:86915/inferred"} ! lymphedema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome" xsd:anyURI {source="GARD:0000284"}

[Term]
id: MONDO:0011167
name: type 1 diabetes mellitus 6
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21." [DOID:0110745, MONDO:patterns/inherited_susceptibility, PMID:9215667]
subset: predisposition
synonym: "autoimmune thyroid disease, susceptibility to, 5" RELATED [OMIM:601941]
synonym: "diabetes mellitus, insulin-dependent, 6" RELATED [MONDO:Lexical, OMIM:601941]
synonym: "IDDM6" EXACT ABBREVIATION [DOID:0110745, MONDO:Lexical, OMIM:601941]
synonym: "insulin-dependent diabetes mellitus 6" EXACT [DOID:0110745, OMIM:601941]
xref: DOID:0110745 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110745"}
xref: MEDGEN:356143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566603 {source="MONDO:equivalentTo"}
xref: OMIM:601941 {source="DOID:0110745", source="MONDO:equivalentTo"}
xref: UMLS:C1866041 {source="MEDGEN:356143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:601941"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:601941", source="DOID:0110745", source="MESH:C566603", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:601941"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0011168
name: type 1 diabetes mellitus 10
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "diabetes mellitus, insulin-dependent, 10" RELATED [MONDO:Lexical, OMIM:601942]
synonym: "diabetes mellitus, insulin-dependent, type 10" EXACT [MONDORULE:2, OMIM:601942]
synonym: "diabetes, mellitus, insulin-dependent, susceptibility to, 10" RELATED [OMIM:601942, OMIM:genemap2]
synonym: "IDDM10" EXACT ABBREVIATION [DOID:0110749, MONDO:Lexical, OMIM:601942]
synonym: "IL2RA type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "insulin-dependent diabetes mellitus 10" EXACT [DOID:0110749, OMIM:601942]
synonym: "type 1 diabetes mellitus caused by mutation in IL2RA" EXACT [MONDO:design_pattern]
xref: DOID:0110749 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110749"}
xref: MEDGEN:400903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566602 {source="MONDO:equivalentTo"}
xref: OMIM:601942 {source="DOID:0110749", source="MONDO:equivalentTo"}
xref: UMLS:C1866040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400903"}
is_a: MONDO:0020573 {source="OMIM:601942"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6008 ! IL2RA
intersection_of: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:601942", source="DOID:0110749", source="MESH:C566602", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6008 {source="MONDO:mim2gene_medgen"} ! IL2RA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0011169
name: keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
def: "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities." [Orphanet:281201]
subset: gard_rare {source="GARD:17306", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:281201"}
subset: orphanet_rare {source="Orphanet:281201"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratosis linearis with ichthyosis congenita and sclerosing keratoderma" RELATED [OMIM:601952]
synonym: "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" EXACT CLINGEN_LABEL []
synonym: "KLICK" RELATED ABBREVIATION [OMIM:601952]
synonym: "KLICK syndrome" EXACT [Orphanet:281201]
synonym: "Klick syndrome" RELATED [OMIM:601952]
xref: GARD:17306 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:281201/attributed", source="Orphanet:281201/ntbt", source="Orphanet:281201"}
xref: MEDGEN:356430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566600 {source="MONDO:equivalentTo"}
xref: OMIM:601952 {source="Orphanet:281201/e", source="MONDO:equivalentTo", source="Orphanet:281201"}
xref: Orphanet:281201 {source="MONDO:equivalentTo", source="OMIM:601952"}
xref: SCTID:763775000 {source="MONDO:equivalentTo"}
xref: UMLS:C1866029 {source="MEDGEN:356430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0019268 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20330 {source="MONDO:mim2gene_medgen"} ! POMP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011170
name: autosomal recessive limb-girdle muscular dystrophy type 2G
def: "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." [Orphanet:34514]
subset: gard_rare {source="GARD:10471", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:34514"}
subset: orphanet_rare {source="Orphanet:34514"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP" EXACT []
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap" EXACT [MONDO:design_pattern]
synonym: "LGMD2G" EXACT ABBREVIATION [DOID:0110281, MONDO:Lexical, OMIM:601954, Orphanet:34514]
synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT [DOID:0110281, Orphanet:34514]
synonym: "limb-girdle muscular dystrophy, type 2G" RELATED [GARD:0010471]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 7" EXACT [OMIM:601954, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [DOID:0110281, MONDO:Lexical, OMIM:601954]
synonym: "TCAP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Tcap autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern]
xref: DOID:0110281 {source="MONDO:equivalentTo"}
xref: GARD:10471 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:34514/inclusion", source="Orphanet:34514", source="Orphanet:34514/ntbt", source="DOID:0110281"}
xref: MEDGEN:400895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566599 {source="MONDO:equivalentTo"}
xref: OMIM:601954 {source="Orphanet:34514", source="MONDO:equivalentTo", source="DOID:0110281", source="Orphanet:34514/e"}
xref: Orphanet:34514 {source="MONDO:equivalentTo", source="DOID:0110281", source="OMIM:601954"}
xref: SCTID:720522001 {source="MONDO:equivalentTo"}
xref: UMLS:C1866008 {source="MEDGEN:400895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="DOID:0110281", source="MONDO:Redundant", source="OMIM:601954", source="Orphanet:34514"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016192 {source="Orphanet:34514"} ! qualitative or quantitative defects of telethonin
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 ! TCAP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 {source="MONDO:mim2gene_medgen"} ! TCAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011171
name: odonto-tricho-ungual-digito-palmar syndrome
def: "Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait." [Orphanet:69082]
subset: gard_rare {source="GARD:16679", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:69082"}
subset: ordo_malformation_syndrome {source="Orphanet:69082"}
subset: orphanet_rare {source="Orphanet:69082"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" EXACT [Orphanet:69082]
synonym: "ODONTOTRICHOUNGUAL-digital-palmar syndrome" RELATED [OMIM:601957]
synonym: "OTUDP syndrome" EXACT [Orphanet:69082]
synonym: "Otudp syndrome" RELATED [OMIM:601957]
xref: GARD:16679 {source="MONDO:GARD"}
xref: MEDGEN:400891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566598 {source="MONDO:equivalentTo"}
xref: OMIM:601957 {source="Orphanet:69082", source="MONDO:equivalentTo", source="Orphanet:69082/e"}
xref: Orphanet:69082 {source="MONDO:equivalentTo", source="OMIM:601957"}
xref: SCTID:722063009 {source="MONDO:equivalentTo"}
xref: UMLS:C1865998 {source="MEDGEN:400891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C566598", source="Orphanet:69082"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0011172
name: otofacioosseous-gonadal syndrome
synonym: "otofacioosseous-gonadal syndrome" EXACT [OMIM:601976]
xref: MEDGEN:356416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566597 {source="MONDO:equivalentTo"}
xref: OMIM:601976 {source="MONDO:equivalentTo"}
xref: UMLS:C1865988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356416"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011173
name: thrombocythemia 2
def: "Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial thrombocytosis caused by mutation in MPL" EXACT [MONDO:design_pattern]
synonym: "MPL familial thrombocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THCYT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601977]
synonym: "thrombocythemia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:601977]
synonym: "thrombocythemia 2, autosomal dominant, somatic mutation" EXACT [OMIM:601977, OMIM:genemap2]
synonym: "thrombocythemia type 2" EXACT [MONDORULE:1, OMIM:601977]
xref: MEDGEN:477629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601977 {source="MONDO:equivalentTo"}
xref: Orphanet:3318 {source="OMIM:601977"}
xref: Orphanet:71493 {source="OMIM:601977", source="MONDO:directSiblingOf"}
xref: UMLS:C3275998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477629"}
is_a: MONDO:0002249 {source="DC-OMIM:601977"} ! thrombocytosis disease
is_a: MONDO:0019111 {source="OMIMPS:187950"} ! familial thrombocytosis
relationship: excluded_subClassOf MONDO:0005029 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! essential thrombocythemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7217 {source="MONDO:mim2gene_medgen"} ! MPL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011174
name: hyperzincemia with functional zinc depletion
synonym: "hyperzincemia with functional zinc depletion" EXACT [OMIM:601979]
xref: MEDGEN:356415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566595 {source="MONDO:equivalentTo"}
xref: OMIM:601979 {source="MONDO:equivalentTo"}
xref: UMLS:C1865986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356415"}
is_a: MONDO:0003847 {source="MESH:C566595/inferred"} ! hereditary disease

[Term]
id: MONDO:0011175
name: Friedreich ataxia 2
def: "Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11" [OMIM:601992]
subset: gard_rare {source="GARD:15340", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FRDA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601992]
synonym: "Friedreich ataxia 2" EXACT [MONDO:Lexical, OMIM:601992]
xref: DOID:0111219 {source="MONDO:equivalentTo"}
xref: GARD:15340 {source="MONDO:GARD"}
xref: MEDGEN:356134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566594 {source="MONDO:equivalentTo"}
xref: OMIM:601992 {source="MONDO:equivalentTo"}
xref: Orphanet:95 {source="OMIM:601992"}
xref: UMLS:C1865981 {source="MEDGEN:356134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100339 {source="MESH:C566594", source="Orphanet:95/btnt", source="https://github.com/monarch-initiative/mondo/issues/2807"} ! Friedreich ataxia

[Term]
id: MONDO:0011176
name: intestinal hypomagnesemia 1
def: "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." [Orphanet:30924]
subset: gard_rare {source="GARD:13072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:30924"}
subset: orphanet_rare {source="Orphanet:30924"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial primary hypomagnesemia caused by mutation in TRPM6" EXACT []
synonym: "Homg" RELATED [OMIM:602014]
synonym: "HOMG1" EXACT ABBREVIATION [DOID:0060883, MONDO:Lexical, OMIM:602014, Orphanet:30924]
synonym: "HSH" EXACT ABBREVIATION [Orphanet:30924]
synonym: "hypomagnesemia 1, intestinal" RELATED [MONDO:Lexical, OMIM:602014]
synonym: "hypomagnesemia caused by selective magnesium malabsorption" EXACT [DOID:0060883, Orphanet:30924]
synonym: "hypomagnesemia intestinal type 1" EXACT [DOID:0060883, Orphanet:30924]
synonym: "hypomagnesemia with secondary hypocalcemia" RELATED [OMIM:602014]
synonym: "hypomagnesemia, intestinal, with secondary hypocalcemia" RELATED [OMIM:602014]
synonym: "hypomagnesemic tetany" EXACT [DOID:0060883, OMIM:602014]
synonym: "intestinal hypomagnesemia type 1" EXACT [DOID:0060883, MONDORULE:1]
synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883, Orphanet:30924]
synonym: "PHSH" EXACT ABBREVIATION [Orphanet:30924]
synonym: "primary hypomagnesemia caused by mutation in TRPM6" EXACT [MONDO:design_pattern]
synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883]
synonym: "TRPM6 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "TRPM6 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060883 {source="MONDO:equivalentTo"}
xref: GARD:13072 {source="MONDO:GARD"}
xref: ICD10CM:E83.4 {source="DOID:0060883", source="Orphanet:30924/attributed", source="Orphanet:30924/ntbt", source="Orphanet:30924"}
xref: MEDGEN:355596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566593 {source="MONDO:equivalentTo"}
xref: OMIM:602014 {source="Orphanet:30924/e", source="DOID:0060883", source="MONDO:equivalentTo", source="Orphanet:30924"}
xref: Orphanet:30924 {source="OMIM:602014", source="DOID:0060883", source="MONDO:equivalentTo"}
xref: SCTID:190856003 {source="MONDO:equivalentTo"}
xref: UMLS:C1865974 {source="MEDGEN:355596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017626 {source="Orphanet:30924"} ! familial primary hypomagnesemia with normocalcuria
is_a: MONDO:0018100 {source="DOID:0060883", source="MONDO:Redundant", source="OMIM:602014", source="Orphanet:30924/inferred"} ! familial primary hypomagnesemia
intersection_of: MONDO:0018100 ! familial primary hypomagnesemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17995 ! TRPM6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17995 {source="MONDO:mim2gene_medgen"} ! TRPM6

[Term]
id: MONDO:0011177
name: ectodermal dysplasia 4, hair/nail type
def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18062", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602032]
synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [MONDO:Lexical, OMIM:602032]
synonym: "ectodermal dysplasia, 'Pure' hair/nail type" RELATED [OMIM:602032]
synonym: "KRT85 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pili torti onychodysplasia" RELATED [GARD:0004364]
synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT85" EXACT [MONDO:design_pattern]
synonym: "twisted hair with nail dysplasias" RELATED [GARD:0004364]
xref: DOID:0111658 {source="MONDO:equivalentTo"}
xref: GARD:18062 {source="MONDO:GARD"}
xref: MESH:C566592 {source="MONDO:equivalentTo"}
xref: OMIM:602032 {source="MONDO:equivalentTo", source="GARD:0004364"}
xref: Orphanet:69084 {source="OMIM:602032"}
is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia
is_a: MONDO:0019287 {source="MESH:C566592", source="MONDO:Redundant", source="OMIM:602032"} ! ectodermal dysplasia syndrome
intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6462 ! KRT85
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6462 {source="MONDO:mim2gene_medgen"} ! KRT85

[Term]
id: MONDO:0011178
name: infantile convulsions and choreoathetosis
def: "A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence." [https://orcid.org/0000-0001-5208-3432, Orphanet:31709]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31709"}
subset: orphanet_rare {source="Orphanet:31709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "convulsions, familial infantile, with paroxysmal choreoathetosis" RELATED [MONDO:Lexical, OMIM:602066]
synonym: "convulsions, infantile, with paroxysmal choreoathetosis, familial" RELATED [GARD:0008553]
synonym: "ICCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602066]
synonym: "ICCA syndrome" EXACT [Orphanet:31709]
synonym: "Icca syndrome" RELATED [OMIM:602066]
synonym: "infantile convulsions and choreoathetosis" EXACT CLINGEN_LABEL []
synonym: "infantile convulsions and paroxysmal choreoathetosis, familial" RELATED [OMIM:602066]
synonym: "paroxysmal kinesigenic dyskinesia and infantile convulsions" EXACT [Orphanet:31709]
synonym: "paroxysmal kinesigenic dyskinesia with infantile convulsions" RELATED [OMIM:602066]
synonym: "PKD/IC" EXACT [NCIT:C126650]
xref: GARD:8553 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:31709/attributed", source="Orphanet:31709/ntbt", source="Orphanet:31709"}
xref: MEDGEN:356123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535522 {source="MONDO:equivalentTo"}
xref: NCIT:C126650 {source="MONDO:equivalentTo"}
xref: OMIM:602066 {source="Orphanet:31709/e", source="MONDO:equivalentTo", source="Orphanet:31709"}
xref: Orphanet:31709 {source="MONDO:equivalentTo", source="OMIM:602066"}
xref: SCTID:715534008 {source="MONDO:equivalentTo"}
xref: UMLS:C1865926 {source="MEDGEN:356123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C126650"} ! syndromic disease
is_a: MONDO:0015427 {source="Orphanet:31709"} ! paroxysmal dyskinesia
is_a: MONDO:0015642 {source="Orphanet:31709"} ! benign partial infantile seizures
is_a: MONDO:0100556 {source="PMID:33746883", source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! PRRT2-associated paroxysmal movement disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="OMIM:602066"} ! PRRT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:string

[Term]
id: MONDO:0011179
name: leishmaniasis, tegumentary, susceptibility to
subset: predisposition
synonym: "leishmaniasis, tegumentary, susceptibility to" EXACT [OMIM:602068]
xref: MEDGEN:412566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602068 {source="MONDO:equivalentTo"}
xref: UMLS:C2748501 {source="MEDGEN:412566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:602068"} ! inherited disease susceptibility

[Term]
id: MONDO:0011180
name: broad terminal phalanges, familial
synonym: "broad terminal phalanges, familial" EXACT [OMIM:602071]
xref: MEDGEN:400879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566588 {source="MONDO:equivalentTo"}
xref: OMIM:602071 {source="MONDO:equivalentTo"}
xref: UMLS:C1865923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400879"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011181
name: fibrosis of extraocular muscles, congenital, 2
def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CFEOM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602078]
synonym: "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A" EXACT [MONDO:design_pattern]
synonym: "Feom2 locus" RELATED [OMIM:602078]
synonym: "fibrosis of extraocular muscles, congenital, 2" EXACT [MONDO:Lexical, OMIM:602078]
synonym: "fibrosis of extraocular muscles, congenital, autosomal recessive" RELATED [OMIM:602078]
synonym: "fibrosis of extraocular muscles, congenital, type 2" EXACT [MONDORULE:1, OMIM:602078]
synonym: "PHOX2A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081016 {source="MONDO:equivalentTo"}
xref: GARD:15341 {source="MONDO:GARD"}
xref: MEDGEN:356119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566587 {source="MONDO:equivalentTo"}
xref: OMIM:602078 {source="MONDO:equivalentTo"}
xref: Orphanet:45358 {source="OMIM:602078"}
xref: UMLS:C1865915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356119"}
is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:602078", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles
intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/691 ! PHOX2A
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/691 {source="MONDO:mim2gene_medgen"} ! PHOX2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011182
name: trimethylaminuria
def: "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." [Orphanet:468726]
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fish malodor syndrome" RELATED [GARD:0006447]
synonym: "fish odor syndrome" EXACT [GARD:0006447, Orphanet:35056]
synonym: "fish odour syndrome" EXACT OMO:0003005 []
synonym: "fish-odor syndrome" EXACT [OMIM:602079]
synonym: "stale fish syndrome" RELATED [GARD:0006447]
synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079]
synonym: "TMAuria" RELATED [GARD:0006447]
synonym: "trimethylaminuria" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical, OMIM:602079]
synonym: "trimethylaminuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0003614 {source="MONDO:otherHierarchy"}
xref: MEDGEN:83350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536561
xref: Orphanet:35056 {source="OMIM:602079", source="MONDO:equivalentObsolete"}
xref: SCTID:237959005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83350"}
is_a: MONDO:0003847 {source="MESH:C536561/inferred"} ! hereditary disease
relationship: disease_has_basis_in_disruption_of GO:0047865 {source="OMIM:602079"} ! dimethylglycine dehydrogenase activity
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3448" xsd:anyURI
property_value: IAO:0000589 "trimethylaminuria (disease)" xsd:string

[Term]
id: MONDO:0011183
name: Paget disease of bone 2, early-onset
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Paget disease of bone 2, early-onset" EXACT [MONDO:Lexical, OMIM:602080]
synonym: "PDB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602080]
xref: DOID:0081365 {source="MONDO:equivalentTo"}
xref: MEDGEN:899166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602080 {source="MONDO:equivalentTo"}
xref: Orphanet:280110 {source="OMIM:602080"}
xref: UMLS:C4085251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899166"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005382 {source="DC-OMIM:602080", source="OMIM:602080"} ! bone Paget disease
is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011184
name: childhood apraxia of speech
subset: gard_rare {source="GARD:12889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209908"}
subset: orphanet_rare {source="Orphanet:209908"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "articulatory apraxia" RELATED [GARD:0012889]
synonym: "CAS" EXACT ABBREVIATION [Orphanet:209908]
synonym: "childhood apraxia of speech" EXACT [OMIM:602081]
synonym: "das" RELATED [GARD:0012889]
synonym: "developmental apraxia of speech" RELATED [GARD:0012889]
synonym: "developmental verbal apraxia" RELATED [GARD:0012889]
synonym: "developmental verbal dyspraxia" EXACT [OMIM:602081, Orphanet:209908]
synonym: "SPCH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602081]
synonym: "speech and language disorder with orofacial dyspraxia" EXACT [OMIM:602081, Orphanet:209908]
synonym: "speech-language disorder 1" RELATED [MONDO:Lexical, OMIM:602081]
synonym: "speech-language disorder type 1" EXACT [MONDORULE:1, OMIM:602081, Orphanet:209908]
synonym: "speech-language disorder-1" RELATED [GARD:0012889]
xref: DOID:0111275 {source="MONDO:equivalentTo"}
xref: GARD:12889 {source="MONDO:GARD"}
xref: ICD9:315.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:152917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602081 {source="MONDO:equivalentTo", source="Orphanet:209908", source="Orphanet:209908/e"}
xref: Orphanet:209908 {source="MONDO:equivalentTo", source="OMIM:602081"}
xref: SCTID:229703009 {source="MONDO:equivalentTo"}
xref: UMLS:C0750927 {source="MONDO:equivalentTo", source="MEDGEN:152917", source="MONDO:MEDGEN"}
is_a: MONDO:0016226 {source="Orphanet:209908"} ! specific language disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13875 {source="MONDO:mim2gene_medgen"} ! FOXP2

[Term]
id: MONDO:0011185
name: Thiel-Behnke corneal dystrophy
def: "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." [Orphanet:98960]
subset: gard_rare {source="GARD:9275", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98960"}
subset: orphanet_rare {source="Orphanet:98960"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior limiting membrane dystrophy type 2" EXACT [Orphanet:98960]
synonym: "anterior limiting membrane dystrophy type II" EXACT [DOID:0060455, Orphanet:98960]
synonym: "CDB2" RELATED ABBREVIATION [GARD:0009275]
synonym: "CDTB" RELATED ABBREVIATION [GARD:0009275, MONDO:Lexical, OMIM:602082]
synonym: "corneal dystrophy honeycomb shaped" RELATED [GARD:0009275]
synonym: "corneal dystrophy honeycomb-shaped" EXACT [DOID:0060455]
synonym: "corneal dystrophy of Bowman layer type 2" EXACT [Orphanet:98960]
synonym: "corneal dystrophy of Bowman layer type II" EXACT [DOID:0060455, Orphanet:98960]
synonym: "corneal dystrophy of Bowman Layer, type 2" RELATED [OMIM:602082]
synonym: "corneal dystrophy of the Bowman layer type 2" RELATED [GARD:0009275]
synonym: "corneal dystrophy Thiel Behnke type" RELATED [GARD:0009275]
synonym: "corneal dystrophy, honeycomb-Shaped" RELATED [OMIM:602082]
synonym: "corneal dystrophy, Thiel-Behnke type" RELATED [MONDO:Lexical, OMIM:602082]
synonym: "curly fiber corneal dystrophy" EXACT [Orphanet:98960]
synonym: "curly fibre corneal dystrophy" EXACT OMO:0003005 []
synonym: "honeycomb corneal dystrophy" EXACT [Orphanet:98960]
synonym: "TBCD" EXACT ABBREVIATION [DOID:0060455, GARD:0009275, Orphanet:98960]
synonym: "Thiel Behnke corneal dystrophy" RELATED [GARD:0009275]
synonym: "Thiel-Behnke corneal dystrophy" EXACT [OMIM:602082]
synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [DOID:0060455, Orphanet:98960]
xref: DOID:0060455 {source="MONDO:equivalentTo"}
xref: GARD:9275 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98960", source="Orphanet:98960/attributed", source="Orphanet:98960/ntbt"}
xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:287070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535942 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e"}
xref: OMIM:602082 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e", source="GARD:0009275"}
xref: Orphanet:98960 {source="DOID:0060455", source="MONDO:equivalentTo", source="OMIM:602082", source="GARD:0009275"}
xref: SCTID:417065002 {source="DOID:0060455", source="MONDO:equivalentTo"}
xref: UMLS:C1562894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:287070"}
is_a: MONDO:0000764 {source="DOID:0060455"} ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0020212 {source="Orphanet:98960"} ! superficial corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type" xsd:anyURI {source="GARD:0009275"}

[Term]
id: MONDO:0011186
name: Usher syndrome type 1F
def: "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner." [OMIM:602083]
subset: gard_rare {source="GARD:10043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH1F" EXACT ABBREVIATION [DOID:0110832, MONDO:Lexical, OMIM:602083]
synonym: "Usher syndrome type 1F" EXACT CLINGEN_LABEL []
synonym: "Usher syndrome type IF" EXACT [DOID:0110832]
synonym: "Usher syndrome, type 1F" RELATED [GARD:0010043]
synonym: "USHER syndrome, type IF" RELATED [MONDO:Lexical, OMIM:602083]
xref: DOID:0110832 {source="MONDO:equivalentTo"}
xref: GARD:10043 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110832", source="MONDO:relatedTo"}
xref: MEDGEN:356393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602083 {source="DOID:0110832", source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="OMIM:602083"}
xref: Orphanet:886 {source="OMIM:602083"}
xref: UMLS:C1865885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356393"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
is_a: MONDO:0019501 {source="DOID:0110832/inferred", source="MONDO:Redundant", source="OMIM:602083"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:602083"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14674 {source="MONDO:mim2gene_medgen"} ! PCDH15
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f" xsd:anyURI {source="GARD:0010043"}

[Term]
id: MONDO:0011187
name: polydactyly, postaxial, type A2
subset: gard_rare {source="GARD:18173", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PAPA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602085]
synonym: "polydactyly, postaxial, type A2" EXACT [MONDO:Lexical, OMIM:602085]
synonym: "postaxial polydactyly, type A2" RELATED [OMIM:602085]
xref: GARD:18173 {source="MONDO:GARD"}
xref: MEDGEN:356392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566585 {source="MONDO:equivalentTo"}
xref: OMIM:602085 {source="MONDO:equivalentTo"}
xref: Orphanet:93334 {source="OMIM:602085"}
xref: UMLS:C1865883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356392"}
is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A

[Term]
id: MONDO:0011188
name: arrhythmogenic right ventricular dysplasia 3
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22." [DOID:0110072, PMID:8824801]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 3" EXACT [DOID:0110072, OMIM:602086]
synonym: "arrhythmogenic right ventricular dysplasia type 3" EXACT [DOID:0110072, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 3" RELATED [MONDO:Lexical, OMIM:602086]
synonym: "ARVC3" EXACT ABBREVIATION [DOID:0110072]
synonym: "ARVD3" EXACT ABBREVIATION [DOID:0110072, MONDO:Lexical, OMIM:602086]
synonym: "familial arrhythmogenic right ventricular dysplasia 3" EXACT [DOID:0110072]
xref: DOID:0110072 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110072"}
xref: MEDGEN:356108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566584 {source="MONDO:equivalentTo"}
xref: OMIM:602086 {source="MONDO:equivalentTo", source="DOID:0110072"}
xref: Orphanet:217656 {source="OMIM:602086"}
xref: UMLS:C1865882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356108"}
is_a: MONDO:0016342 {source="DOID:0110072", source="MESH:C566584", source="MONDO:Redundant", source="OMIM:602086", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia

[Term]
id: MONDO:0011189
name: arrhythmogenic right ventricular dysplasia 4
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3." [DOID:0110073, PMID:9344647]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 4" EXACT [DOID:0110073, OMIM:602087]
synonym: "arrhythmogenic right ventricular dysplasia type 4" EXACT [DOID:0110073, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 4" RELATED [MONDO:Lexical, OMIM:602087]
synonym: "ARVC4" EXACT ABBREVIATION [DOID:0110073]
synonym: "ARVD4" EXACT ABBREVIATION [DOID:0110073, MONDO:Lexical, OMIM:602087]
synonym: "fanilial arrhythmogenic right ventricular dysplasia 4" EXACT [DOID:0110073]
xref: DOID:0110073 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110073"}
xref: MEDGEN:356107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566583 {source="MONDO:equivalentTo"}
xref: OMIM:602087 {source="DOID:0110073", source="MONDO:equivalentTo"}
xref: Orphanet:217656 {source="OMIM:602087"}
xref: UMLS:C1865881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356107"}
is_a: MONDO:0016342 {source="DOID:0110073", source="MESH:C566583", source="MONDO:Redundant", source="OMIM:602087", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia

[Term]
id: MONDO:0011190
name: nephronophthisis 2
def: "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93591"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile nephronophthisis 2" EXACT [DOID:0111113]
synonym: "INVS nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in INVS" EXACT []
synonym: "nephronophthisis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:602088]
synonym: "nephronophthisis 2, infantile" EXACT [OMIM:602088, OMIM:genemap2]
synonym: "nephronophthisis type 2" EXACT [DOID:0111113, MONDORULE:1, OMIM:602088]
synonym: "NPH2" EXACT ABBREVIATION [DOID:0111113]
synonym: "Nph2" RELATED [OMIM:602088]
synonym: "NPHP2" EXACT ABBREVIATION [DOID:0111113, MONDO:Lexical, OMIM:602088]
xref: DOID:0111113 {source="MONDO:equivalentTo"}
xref: GARD:18182 {source="MONDO:GARD"}
xref: MEDGEN:355574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566582 {source="MONDO:equivalentTo"}
xref: OMIM:602088 {source="MONDO:equivalentTo", source="DOID:0111113"}
xref: Orphanet:655 {source="OMIM:602088"}
xref: Orphanet:93591 {source="MONDO:equivalentTo"}
xref: UMLS:C1865872 {source="MEDGEN:355574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019005 {source="DC-OMIM:602088", source="DOID:0111113", source="MONDO:Redundant", source="OMIM:602088"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17870 ! INVS
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:602088"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17870 {source="MONDO:mim2gene_medgen"} ! INVS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011191
name: capillary infantile hemangioma
def: "Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover." [https://orcid.org/0000-0001-5208-3432, OMIM:602089]
subset: otar {source="MONDO:OTAR"}
synonym: "HCI" EXACT ABBREVIATION [OMIM:602089]
synonym: "hemangioma, capillary infantile" EXACT [OMIM:602089]
synonym: "hemangioma, capillary infantile, somatic" EXACT [OMIM:602089, OMIM:genemap2]
synonym: "hemangioma, hereditary capillary" EXACT [OMIM:602089]
synonym: "hereditary capillary infantile hemangioma" EXACT [Orphanet:464293]
xref: MEDGEN:355573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535860 {source="MONDO:equivalentTo"}
xref: OMIM:602089 {source="MONDO:equivalentTo"}
xref: Orphanet:464293 {source="MONDO:equivalentObsolete"}
xref: Orphanet:91415 {source="OMIM:602089", source="MONDO:equivalentObsolete", source="MONDO:Obsolete"}
xref: UMLS:C1865871 {source="MEDGEN:355573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002407 {source="https://orcid.org/0000-0001-5208-3432"} ! capillary hemangioma
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0006500 {source="MESH:C535860/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! hemangioma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021152 {source="OMIM:602089"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6302" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011192
name: autosomal recessive nonsyndromic hearing loss 18A
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 18A" NARROW [DOID:0110473]
synonym: "autosomal recessive nonsyndromic deafness 18A" NARROW [OMIM:602092]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in USH1C" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 18A" NARROW [DOID:0110473, MONDORULE:4]
synonym: "deafness, autosomal recessive 18" NARROW [OMIM:602092]
synonym: "deafness, autosomal recessive 18A" NARROW [MONDO:Lexical, OMIM:602092]
synonym: "deafness, autosomal recessive 18a" NARROW [OMIM:602092, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 18A" NARROW [MONDORULE:4, OMIM:602092]
synonym: "DFNB18A" NARROW ABBREVIATION [DOID:0110473, MONDO:Lexical, OMIM:602092]
synonym: "USH1C autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110473 {source="MONDO:equivalentTo"}
xref: GARD:22592 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110473"}
xref: MEDGEN:356389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566580 {source="MONDO:equivalentTo"}
xref: OMIM:602092 {source="MONDO:equivalentTo", source="DOID:0110473"}
xref: UMLS:C1865870 {source="MEDGEN:356389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:602092", source="DOID:0110473", source="MONDO:Redundant", source="OMIM:602092"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12597 ! USH1C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12597 {source="MONDO:mim2gene_medgen"} ! USH1C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011193
name: cone dystrophy 3
def: "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602093]
synonym: "cone dystrophy 3" EXACT [MONDO:Lexical, OMIM:602093]
synonym: "cone dystrophy caused by mutation in GUCA1A" EXACT [MONDO:design_pattern]
synonym: "cone dystrophy type 3" EXACT [MONDORULE:1, OMIM:602093]
synonym: "cone dystrophy-3" EXACT [OMIM:602093, OMIM:genemap2]
synonym: "cone-rod dystrophy 14" RELATED [OMIM:602093]
synonym: "GUCA1A cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal cone dystrophy" RELATED [OMIM:602093]
xref: DOID:0080314 {source="MONDO:equivalentTo"}
xref: GARD:15342 {source="MONDO:GARD"}
xref: MEDGEN:356104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566579 {source="DOID:0080314"}
xref: OMIM:602093 {source="MONDO:equivalentTo", source="DOID:0080314"}
xref: Orphanet:1871 {source="OMIM:602093"}
xref: Orphanet:1872 {source="OMIM:602093"}
xref: UMLS:C1865869 {source="MONDO:equivalentTo", source="MEDGEN:356104", source="MONDO:MEDGEN"}
is_a: MONDO:0000455 {source="DC-OMIM:602093", source="MONDO:Redundant"} ! cone dystrophy
is_a: MONDO:0003847 {source="DOID:0080314"} ! hereditary disease
is_a: MONDO:0015993 {source="DOID:0080314"} ! cone-rod dystrophy
intersection_of: MONDO:0000455 ! cone dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4678 ! GUCA1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4678 {source="MONDO:mim2gene_medgen"} ! GUCA1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011194
name: Alzheimer disease 5
subset: gard_rare {source="GARD:16507", source="MONDO:GARD"}
subset: rare
synonym: "AD5" EXACT ABBREVIATION [DOID:0110037]
synonym: "Ad5" RELATED [OMIM:602096]
synonym: "Alzheimer disease 5" EXACT [DOID:0110037, OMIM:602096]
synonym: "Alzheimer disease type 5" EXACT [MONDORULE:1, OMIM:602096]
synonym: "Alzheimer disease, familial 5" EXACT [DOID:0110037]
synonym: "Alzheimer disease, familial, 5" RELATED [OMIM:602096]
synonym: "Alzheimer disease-5" EXACT [OMIM:602096, OMIM:genemap2]
synonym: "Alzheimer's disease 5" RELATED [DOID:0110037]
synonym: "Alzheimer's disease type 5" EXACT [DOID:0110037, MONDORULE:1]
xref: DOID:0110037 {source="MONDO:equivalentTo"}
xref: GARD:16507 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110037"}
xref: MEDGEN:356103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566578 {source="MONDO:equivalentTo"}
xref: OMIM:602096 {source="MONDO:equivalentTo"}
xref: UMLS:C1865868 {source="MEDGEN:356103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011195
name: Usher syndrome type 1E
def: "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner." [OMIM:602097]
subset: gard_rare {source="GARD:5439", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH1E" EXACT ABBREVIATION [DOID:0110833, MONDO:Lexical, OMIM:602097]
synonym: "Usher syndrome type IE" EXACT [DOID:0110833]
synonym: "Usher syndrome, type 1E" RELATED [GARD:0005439]
synonym: "USHER syndrome, type IE" RELATED [MONDO:Lexical, OMIM:602097]
xref: DOID:0110833 {source="MONDO:equivalentTo"}
xref: GARD:5439 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110833", source="MONDO:relatedTo"}
xref: MEDGEN:400865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602097 {source="DOID:0110833", source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="OMIM:602097"}
xref: Orphanet:886 {source="OMIM:602097"}
xref: UMLS:C1865865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400865"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
is_a: MONDO:0019501 {source="DOID:0110833/inferred", source="MONDO:Redundant", source="OMIM:602097"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:602097"} ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e" xsd:anyURI {source="GARD:0005439"}

[Term]
id: MONDO:0011196
name: amyotrophic lateral sclerosis type 5
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS5" EXACT ABBREVIATION [DOID:0060197, MONDO:Lexical, OMIM:602099]
synonym: "amyotrophic lateral sclerosis 5" EXACT [DOID:0060197, OMIM:602099]
synonym: "amyotrophic lateral sclerosis 5, juvenile" RELATED [MONDO:Lexical, OMIM:602099]
synonym: "amyotrophic lateral sclerosis caused by mutation in SPG11" EXACT [MONDO:design_pattern]
synonym: "SPG11 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060197 {source="MONDO:equivalentTo"}
xref: GARD:15343 {source="MONDO:GARD"}
xref: MEDGEN:356388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566576 {source="MONDO:equivalentTo"}
xref: OMIM:602099 {source="DOID:0060197", source="MONDO:equivalentTo"}
xref: Orphanet:300605 {source="OMIM:602099"}
xref: UMLS:C1865864 {source="MEDGEN:356388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DC-OMIM:602099", source="DOID:0060197", source="MESH:C566576", source="MONDO:Redundant", source="OMIM:602099"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017593 {source="Orphanet:300605/btnt", source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! juvenile amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 ! SPG11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 {source="MONDO:mim2gene_medgen"} ! SPG11
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10503/amyotrophic-lateral-sclerosis-type-5" xsd:anyURI {source="GARD:0010503"}

[Term]
id: MONDO:0011197
name: hereditary thermosensitive neuropathy
def: "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." [Orphanet:84093]
subset: gard_rare {source="GARD:16731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84093"}
subset: orphanet_rare {source="Orphanet:84093"}
subset: rare
synonym: "neuropathy, hereditary thermosensitive" RELATED [OMIM:602107]
xref: GARD:16731 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:84093/attributed", source="Orphanet:84093/ntbt", source="Orphanet:84093"}
xref: MEDGEN:355568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566575 {source="MONDO:equivalentTo"}
xref: OMIM:602107 {source="Orphanet:84093/e", source="MONDO:equivalentTo", source="Orphanet:84093"}
xref: Orphanet:84093 {source="MONDO:equivalentTo", source="OMIM:602107"}
xref: SCTID:715645004 {source="MONDO:equivalentTo"}
xref: UMLS:C1865856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355568"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary motor and sensory neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011198
name: spondyloepimetaphyseal dysplasia, Missouri type
def: "A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." [https://orcid.org/0000-0001-5208-3432, Orphanet:93356]
subset: gard_rare {source="GARD:10618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93356"}
subset: orphanet_rare {source="Orphanet:93356"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "metaphyseal anadysplasia 1" RELATED [OMIM:602111]
synonym: "Missouri type of spondyloepimetaphyseal dysplasia" RELATED [GARD:0010618]
synonym: "SEMD Missouri type" RELATED [GARD:0010618]
synonym: "SEMD type 2" EXACT [Orphanet:93356]
synonym: "SEMD, Missouri type" EXACT [OMIM:602111, Orphanet:93356]
synonym: "spondyloepimetaphyseal dysplasia Missouri type" RELATED [GARD:0010618]
synonym: "spondyloepimetaphyseal dysplasia type 2" EXACT [Orphanet:93356]
synonym: "spondyloepimetaphyseal dysplasia, Missouri type" EXACT [OMIM:602111]
xref: DOID:0080030 {source="MONDO:equivalentTo"}
xref: GARD:10618 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93356", source="Orphanet:93356/attributed", source="Orphanet:93356/ntbt"}
xref: MEDGEN:355563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602111 {source="DOID:0080030", source="MONDO:equivalentTo", source="Orphanet:93356", source="Orphanet:93356/e"}
xref: Orphanet:1040 {source="OMIM:602111"}
xref: Orphanet:93356 {source="OMIM:602111", source="MONDO:equivalentTo"}
xref: SCTID:719171005 {source="MONDO:equivalentTo"}
xref: UMLS:C1865832 {source="MEDGEN:355563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: disease_has_feature HP:0002651 ! Spondyloepimetaphyseal dysplasia
relationship: disease_has_feature HP:0002970 ! Genu varum
relationship: disease_has_feature HP:0004566 ! Pear-shaped vertebrae
relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:602111", source="DOID:0080030", source="Orphanet:93356", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7159 {source="MONDO:mim2gene_medgen"} ! MMP13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type" xsd:anyURI {source="GARD:0010618"}

[Term]
id: MONDO:0011199
name: nephropathy, progressive tubulointerstitial, with cholestatic liver disease
subset: gard_rare {source="GARD:15344", source="MONDO:GARD"}
subset: rare
synonym: "nephropathy, progressive tubulointerstitial, with cholestatic liver disease" EXACT [OMIM:602114]
xref: GARD:15344 {source="MONDO:GARD"}
xref: MEDGEN:355562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566573 {source="MONDO:equivalentTo"}
xref: OMIM:602114 {source="MONDO:equivalentTo"}
xref: Orphanet:171 {source="OMIM:602114"}
xref: UMLS:C1865831 {source="MEDGEN:355562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013433 {source="Orphanet:171/btnt"} ! primary sclerosing cholangitis

[Term]
id: MONDO:0011200
name: torsion dystonia 7
def: "A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p." [DOID:0090040]
subset: gard_rare {source="GARD:7782", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cervical dystonia, primary" RELATED [OMIM:602124]
synonym: "dystonia 7, torsion" RELATED [MONDO:Lexical, OMIM:602124]
synonym: "dystonia-7, torsion" EXACT [OMIM:602124, OMIM:genemap2]
synonym: "DYT7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602124]
synonym: "torsion dystonia type 7" EXACT [DOID:0090040, MONDORULE:1]
synonym: "torsion dystonia, focal adult-onset" RELATED [OMIM:602124]
xref: DOID:0090040 {source="MONDO:equivalentTo"}
xref: GARD:7782 {source="MONDO:GARD"}
xref: MEDGEN:355560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566572 {source="MONDO:equivalentTo"}
xref: NANDO:1200518 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:602124 {source="DOID:0090040", source="MONDO:equivalentTo"}
xref: Orphanet:93963 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1865818 {source="MEDGEN:355560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000477 {source="DOID:0090040"} ! focal dystonia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0044807 {source="DOID:0090040/inferred", source="MONDO:Redundant", source="OMIM:602124"} ! inherited dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011201
name: tremor, hereditary essential, 2
synonym: "essential tremor, hereditary, 2" EXACT [OMIM:602134, OMIM:genemap2]
synonym: "ETM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602134]
synonym: "tremor hereditary essential, 2" RELATED [GARD:0009500]
synonym: "tremor, hereditary essential, 2" EXACT [MONDO:Lexical, OMIM:602134]
xref: DOID:0111429 {source="MONDO:equivalentTo"}
xref: MEDGEN:356087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536546 {source="MONDO:equivalentTo"}
xref: OMIM:602134 {source="MONDO:equivalentTo"}
xref: Orphanet:862 {source="OMIM:602134"}
xref: UMLS:C1865810 {source="MEDGEN:356087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003233 {source="DC-OMIM:602134", source="OMIM:602134"} ! essential tremor
is_a: MONDO:0003847 {source="MESH:C536546/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011202
name: RHYNS syndrome
def: "RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." [Orphanet:140976]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:9681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140976"}
subset: orphanet_rare {source="Orphanet:140976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "retinitis pigmentosa syndrome" RELATED [OMIM:602152]
synonym: "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" RELATED [OMIM:602152]
synonym: "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" EXACT [Orphanet:140976]
synonym: "RHYNS syndrome" EXACT [OMIM:602152]
xref: GARD:9681 {source="MONDO:GARD"}
xref: MEDGEN:356371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537612 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"}
xref: OMIM:602152 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"}
xref: Orphanet:140976 {source="MONDO:equivalentTo", source="OMIM:602152"}
xref: SCTID:723999009 {source="MONDO:equivalentTo"}
xref: UMLS:C1865794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356371"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:140976"} ! inherited renal tubular disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0011203
name: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
subset: gard_rare {source="GARD:10090", source="MONDO:GARD"}
subset: rare
synonym: "campomelic dysplasia, mild" RELATED [OMIM:602196]
synonym: "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies" EXACT [OMIM:602196]
synonym: "skeletal dysplasia related to campomelic dysplasia" RELATED [OMIM:602196]
xref: GARD:10090 {source="MONDO:GARD"}
xref: MEDGEN:355549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535775 {source="MONDO:equivalentTo"}
xref: OMIM:602196 {source="MONDO:equivalentTo"}
xref: Orphanet:140 {source="OMIM:602196"}
xref: UMLS:C1865783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355549"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_feature HP:0000201 ! Pierre-Robin sequence
relationship: excluded_subClassOf MONDO:0007251 {source="MESH:C535775", source="Orphanet:140/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! campomelic dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10090/pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies" xsd:anyURI {source="GARD:0010090"}

[Term]
id: MONDO:0011204
name: obsolete cerebellar degeneration-related autoantigen 3
comment: This is not a disease.
synonym: "Cdr3" RELATED [OMIM:602197]
synonym: "cerebellar degeneration-related autoantigen 3" EXACT [OMIM:602197]
synonym: "cerebellar Degeneration-related autoantigen type 3" EXACT [MONDORULE:1, OMIM:602197]
xref: OMIM:602197 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2522" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011205
name: medium chain 3-ketoacyl-Coa thiolase deficiency
synonym: "Mckat deficiency" RELATED [OMIM:602199]
synonym: "medium chain 3-ketoacyl-Coa thiolase deficiency" EXACT [OMIM:602199]
synonym: "medium-chain 3-ketoacyl-coa thiolase deficiency" RELATED [GARD:0010329]
xref: MEDGEN:356367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566566 {source="MONDO:equivalentTo"}
xref: OMIM:602199 {source="MONDO:equivalentTo"}
xref: UMLS:C1865781 {source="MEDGEN:356367", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566566/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency" xsd:anyURI {source="GARD:0010329"}

[Term]
id: MONDO:0011206
name: ventriculomegaly with defects of the radius and kidney
synonym: "ventriculomegaly with defects of the radius and kidney" EXACT [OMIM:602200]
xref: MEDGEN:400843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566565 {source="MONDO:equivalentTo"}
xref: OMIM:602200 {source="MONDO:equivalentTo"}
xref: UMLS:C1865780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400843"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011207
name: xanthomatosis, susceptibility to
subset: predisposition
synonym: "xanthomatosis, susceptibility to" EXACT [OMIM:602247]
xref: MEDGEN:356066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602247 {source="MONDO:equivalentTo"}
xref: Orphanet:391665 {source="OMIM:602247"}
xref: UMLS:C1865704 {source="MEDGEN:356066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:602247", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0018328 {source="Orphanet:391665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! homozygous familial hypercholesterolemia
relationship: predisposes_towards MONDO:0002615 {source="OMIM:602247"} ! xanthomatosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011208
name: malignant atrophic papulosis
def: "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." [Orphanet:679]
subset: gard_rare {source="GARD:6249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1036"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:679"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrophic papulosis, malignant" RELATED [GARD:0006249]
synonym: "Degos Disease" EXACT [NORD:1036]
synonym: "Degos disease" EXACT [OMIM:602248, Orphanet:679]
synonym: "Degos syndrome" RELATED [GARD:0006249]
synonym: "Degos's malignant atrophic papulosis" RELATED [GARD:0006249]
synonym: "Kohlmeier-Degos disease" EXACT [GARD:0006249, Orphanet:679]
synonym: "Kohlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679]
synonym: "Köhlmeier-Degos disease" EXACT [Orphanet:679]
synonym: "Köhlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679]
synonym: "malignant atrophic papulosis" EXACT [OMIM:602248]
synonym: "papulosis atrophican maligna" EXACT [Orphanet:679]
synonym: "papulosis, malignant atrophic" RELATED [OMIM:602248]
xref: GARD:6249 {source="MONDO:GARD"}
xref: ICD10CM:I77.8 {source="Orphanet:679/ntbt", source="Orphanet:679", source="Orphanet:679/index"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10064281 {source="Orphanet:679", source="Orphanet:679/e"}
xref: MEDGEN:113138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054853 {source="Orphanet:679", source="MONDO:equivalentTo", source="Orphanet:679/e"}
xref: NCIT:C84835 {source="MONDO:equivalentTo"}
xref: NORD:1036 {source="MONDO:NORD"}
xref: OMIM:602248 {source="Orphanet:679", source="MONDO:equivalentTo", source="Orphanet:679/e"}
xref: Orphanet:679 {source="OMIM:602248", source="MONDO:equivalentTo"}
xref: SCTID:400171002 {source="MONDO:equivalentTo"}
xref: UMLS:C0221011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113138"}
is_a: MONDO:0005385 {source="Orphanet:679"} ! vascular disorder
is_a: MONDO:0019293 {source="MESH:D054853", source="Orphanet:679"} ! skin vascular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare

[Term]
id: MONDO:0011209
name: progeroid facial appearance with hand anomalies
synonym: "progeroid facial appearance with hand anomalies" EXACT [OMIM:602249]
xref: MEDGEN:356343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566563 {source="MONDO:equivalentTo"}
xref: OMIM:602249 {source="MONDO:equivalentTo"}
xref: UMLS:C1865699 {source="MEDGEN:356343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566563/inferred"} ! hereditary disease

[Term]
id: MONDO:0011210
name: mitochondrial intermembrane space protein Tim12, yeast, homolog of
synonym: "mitochondrial intermembrane space protein Tim12, yeast, homolog of" EXACT [OMIM:602252]
xref: MEDGEN:400824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602252 {source="MONDO:equivalentTo"}
xref: UMLS:C1865698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400824"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011211
name: axial spondylometaphyseal dysplasia
def: "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia]
subset: gard_rare {source="GARD:8720", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168549"}
subset: orphanet_rare {source="Orphanet:168549"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "axial SmD" RELATED [OMIM:602271]
synonym: "SmD axial" RELATED [GARD:0008720]
synonym: "SmD, axial" RELATED [OMIM:602271]
synonym: "SMDAX" RELATED ABBREVIATION [OMIM:602271]
synonym: "spondylometaphyseal dysplasia axial type" RELATED [GARD:0008720]
synonym: "spondylometaphyseal dysplasia, axial" RELATED [OMIM:602271]
xref: DOID:0112299 {source="MONDO:equivalentTo"}
xref: GARD:8720 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:168549", source="Orphanet:168549/attributed", source="Orphanet:168549/ntbt"}
xref: MEDGEN:356065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535795 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"}
xref: OMIM:602271 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"}
xref: Orphanet:168549 {source="MONDO:equivalentTo", source="OMIM:602271"}
xref: UMLS:C1865695 {source="MEDGEN:356065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="DC-OMIM:602271", source="Orphanet:168549"} ! spondylometaphyseal dysplasia
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1260 ! CFAP410
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1260 {source="MONDO:mim2gene_medgen"} ! CFAP410
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia" xsd:anyURI {source="GARD:0008720"}

[Term]
id: MONDO:0011212
name: sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth
synonym: "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" EXACT [OMIM:602340]
xref: MEDGEN:356334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566560 {source="MONDO:equivalentTo"}
xref: OMIM:602340 {source="MONDO:equivalentTo"}
xref: UMLS:C1865645 {source="MEDGEN:356334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011213
name: Pierpont syndrome
def: "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." [Orphanet:487825]
subset: gard_rare {source="GARD:17885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:487825"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:487825"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PIERPONT syndrome" RELATED [OMIM:602342]
synonym: "Pierpont syndrome" EXACT [OMIM:602342]
synonym: "plantar lipomatosis, unusual facies, and developmental delay" RELATED [OMIM:602342]
synonym: "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:487825]
synonym: "plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [Orphanet:487825]
synonym: "PRPTS" RELATED ABBREVIATION [OMIM:602342]
xref: DOID:0081362 {source="MONDO:equivalentTo"}
xref: GARD:17885 {source="MONDO:GARD"}
xref: MEDGEN:356049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566559 {source="MONDO:equivalentTo"}
xref: OMIM:602342 {source="MONDO:equivalentTo", source="Orphanet:487825"}
xref: Orphanet:487825 {source="MONDO:equivalentTo"}
xref: UMLS:C1865644 {source="MONDO:equivalentTo", source="MEDGEN:356049", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:487825", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:487825"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019296 {source="Orphanet:487825"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29529 {source="MONDO:mim2gene_medgen"} ! TBL1XR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011214
name: progressive familial intrahepatic cholestasis type 3
def: "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." [Orphanet:79305]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1289", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1416"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79305"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABCB4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cholestasis, progressive familial intrahepatic 3" EXACT [OMIM:602347, OMIM:genemap2]
synonym: "cholestasis, progressive familial intrahepatic, 3" RELATED [MONDO:Lexical, OMIM:602347]
synonym: "cholestasis, progressive familial intrahepatic, type 3" EXACT [MONDORULE:1, OMIM:602347]
synonym: "cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase" RELATED [OMIM:602347]
synonym: "MDR3 Deficiency" EXACT [NORD:1416]
synonym: "Mdr3 deficiency" RELATED [OMIM:602347]
synonym: "PFIC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602347, Orphanet:79305]
synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB4" EXACT [MONDO:design_pattern]
synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" RELATED [GARD:0001289]
xref: DOID:0070223 {source="MONDO:equivalentTo"}
xref: GARD:1289 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:79305/attributed", source="Orphanet:79305/ntbt", source="Orphanet:79305"}
xref: MEDGEN:356333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535935 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"}
xref: NANDO:1201045 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1416 {source="MONDO:NORD"}
xref: OMIM:602347 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"}
xref: Orphanet:172 {source="OMIM:602347"}
xref: Orphanet:79305 {source="OMIM:602347", source="MONDO:equivalentTo"}
xref: UMLS:C1865643 {source="MEDGEN:356333", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:602347", source="Orphanet:79305"} ! progressive familial intrahepatic cholestasis
intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 ! ABCB4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3" xsd:anyURI {source="GARD:0001289"}

[Term]
id: MONDO:0011215
name: osteocraniostenosis
def: "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." [Orphanet:2763]
subset: gard_rare {source="GARD:3396", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2763"}
subset: ordo_malformation_syndrome {source="Orphanet:2763"}
subset: orphanet_rare {source="Orphanet:2763"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GCLEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602361]
synonym: "gracile bone dysplasia" EXACT [MONDO:Lexical, OMIM:602361, Orphanet:2763]
synonym: "Habrodysplasia" RELATED [OMIM:602361]
synonym: "Osteocraniosplenic syndrome" EXACT [OMIM:602361, Orphanet:2763]
synonym: "osteocraniostenosis" EXACT [OMIM:602361]
synonym: "skeletal dysplasia lethal with gracile bones" RELATED [GARD:0003396]
synonym: "skeletal dysplasia, lethal, with gracile bones" RELATED [OMIM:602361]
xref: GARD:3396 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:2763/attributed", source="Orphanet:2763/ntbt", source="MONDO:relatedTo", source="Orphanet:2763"}
xref: MEDGEN:356331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537291 {source="MONDO:equivalentTo"}
xref: OMIM:602361 {source="Orphanet:2763", source="MONDO:equivalentTo", source="Orphanet:2763/e"}
xref: Orphanet:2763 {source="MONDO:equivalentTo", source="OMIM:602361"}
xref: SCTID:722109008 {source="MONDO:equivalentTo"}
xref: UMLS:C1865639 {source="MEDGEN:356331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24725 {source="MONDO:mim2gene_medgen"} ! FAM111A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011216
name: hemochromatosis type 2A
def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemochromatosis type 2 caused by mutation in HJV" EXACT [MONDO:design_pattern]
synonym: "hemochromatosis type 2A" EXACT CLINGEN_LABEL []
synonym: "hemochromatosis, juvenile" RELATED [OMIM:602390]
synonym: "hemochromatosis, type 2" RELATED [OMIM:602390]
synonym: "hemochromatosis, type 2A" RELATED [MONDO:Lexical, OMIM:602390]
synonym: "HFE2A" EXACT ABBREVIATION [DOID:0111027, MONDO:Lexical, OMIM:602390]
synonym: "HJV hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111027 {source="MONDO:equivalentTo"}
xref: MEDGEN:356321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602390 {source="MONDO:equivalentTo", source="DOID:0111027"}
xref: Orphanet:79230 {source="OMIM:602390"}
xref: UMLS:C1865614 {source="MEDGEN:356321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006507 {source="DOID:0111027/inferred", source="MONDO:Redundant", source="OMIM:602390"} ! hereditary hemochromatosis
is_a: MONDO:0019257 {source="DOID:0111027", source="MONDO:Redundant"} ! hemochromatosis type 2
intersection_of: MONDO:0019257 ! hemochromatosis type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4887 ! HJV
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4887 {source="MONDO:mim2gene_medgen"} ! HJV

[Term]
id: MONDO:0011217
name: desmosterolosis
def: "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." [Orphanet:35107]
subset: gard_rare {source="GARD:10283", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35107"}
subset: orphanet_rare {source="Orphanet:35107"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "desmosterolosis" EXACT [OMIM:602398]
xref: GARD:10283 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:35107/attributed", source="Orphanet:35107/ntbt", source="Orphanet:35107"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:400801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566555 {source="MONDO:equivalentTo"}
xref: OMIM:602398 {source="Orphanet:35107", source="MONDO:equivalentTo", source="Orphanet:35107/e"}
xref: Orphanet:35107 {source="OMIM:602398", source="MONDO:equivalentTo"}
xref: SCTID:709490002 {source="MONDO:equivalentTo"}
xref: UMLS:C1865596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400801"}
is_a: MONDO:0019240 {source="Orphanet:35107"} ! sterol biosynthesis disorder
is_a: MONDO:0019702 {source="Orphanet:35107", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia
relationship: disease_has_basis_in_disruption_of GO:0006695 ! cholesterol biosynthetic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2859 {source="MONDO:mim2gene_medgen"} ! DHCR24
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis" xsd:anyURI {source="GARD:0010283"}

[Term]
id: MONDO:0011218
name: autosomal recessive congenital ichthyosis 11
subset: gard_rare {source="GARD:10116", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91132"}
subset: orphanet_rare {source="Orphanet:91132"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCI11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602400]
synonym: "ARIH" RELATED ABBREVIATION [GARD:0010116]
synonym: "autosomal recessive congenital ichthyosis 11" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive congenital ichthyosis type 11" EXACT [DOID:0060720, MONDORULE:2]
synonym: "autosomal recessive ichthyosis with hypotrichosis" EXACT [DOID:0060720]
synonym: "hypotrichosis-congenital ichthyosis syndrome" EXACT [DOID:0060720, Orphanet:91132]
synonym: "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT [DOID:0060720, OMIM:602400]
synonym: "ichthyosis with hypotrichosis, autosomal recessive" RELATED [OMIM:602400]
synonym: "ichthyosis, congenital, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:602400]
synonym: "ichthyosis, congenital, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:602400]
synonym: "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT [DOID:0060720, Orphanet:91132]
synonym: "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT [DOID:0060720, Orphanet:91132]
synonym: "ichthyosis-hypotrichosis syndrome" EXACT [DOID:0060720]
synonym: "IFAH syndrome" EXACT [DOID:0060720, Orphanet:91132]
synonym: "IHS" EXACT ABBREVIATION [DOID:0060720, Orphanet:91132]
xref: DOID:0060720 {source="MONDO:equivalentTo"}
xref: GARD:10116 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:91132/attributed", source="Orphanet:91132/ntbt", source="Orphanet:91132", source="DOID:0060720"}
xref: MEDGEN:332073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536273 {source="MONDO:equivalentTo"}
xref: OMIM:602400 {source="Orphanet:91132", source="MONDO:equivalentTo", source="DOID:0060720", source="Orphanet:91132/e"}
xref: Orphanet:91132 {source="OMIM:602400", source="MONDO:equivalentTo"}
xref: UMLS:C1835851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332073"}
is_a: MONDO:0017265 {source="DC-OMIM:602400", source="DOID:0060720", source="OMIM:602400"} ! autosomal recessive congenital ichthyosis
relationship: excluded_subClassOf MONDO:0017271 {source="Orphanet:91132", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal ichthyosis syndrome with prominent hair abnormalities
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011219
name: Fried's tooth and nail syndrome
subset: gard_rare {source="GARD:16903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99672"}
subset: ordo_malformation_syndrome {source="Orphanet:99672"}
subset: orphanet_rare {source="Orphanet:99672"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ECTD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602401]
synonym: "ectodermal dysplasia 8, hair/tooth/nail type" RELATED [MONDO:Lexical, OMIM:602401]
xref: DOID:0111661 {source="MONDO:equivalentTo"}
xref: GARD:16903 {source="MONDO:GARD"}
xref: MEDGEN:764338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602401 {source="Orphanet:99672/e", source="MONDO:equivalentTo", source="Orphanet:99672"}
xref: Orphanet:99672 {source="OMIM:602401", source="MONDO:equivalentTo"}
xref: SCTID:239020008 {source="MONDO:equivalentTo"}
xref: UMLS:C3551424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764338"}
is_a: MONDO:0019287 {source="OMIM:602401", source="Orphanet:99672"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0011220
name: parkinson disease 3, autosomal dominant
subset: gard_rare {source="GARD:8578", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant Parkinson disease" RELATED [GARD:0008578]
synonym: "PARK3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602404]
synonym: "Parkinson disease 3" EXACT [OMIM:602404, OMIM:genemap2]
synonym: "Parkinson disease 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:602404]
synonym: "Parkinson disease 3, autosomal dominant Lewy body" RELATED [OMIM:602404]
synonym: "Parkinson disease type 3" RELATED [GARD:0008578]
xref: DOID:0111250 {source="MONDO:equivalentTo"}
xref: GARD:8578 {source="MONDO:GARD"}
xref: MEDGEN:355499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566552 {source="MONDO:equivalentTo"}
xref: OMIM:602404 {source="MONDO:equivalentTo"}
xref: Orphanet:2828 {source="OMIM:602404"}
xref: UMLS:C1865581 {source="MONDO:equivalentTo", source="MEDGEN:355499", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="MESH:C566552", source="MONDO:Redundant", source="OMIM:602404"} ! Parkinson disease
is_a: MONDO:0017279 {source="Orphanet:2828/btnt"} ! young-onset Parkinson disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011221
name: Weyers ulnar ray/oligodactyly syndrome
synonym: "Weyers ulnar ray/oligodactyly syndrome" EXACT [OMIM:602418]
xref: MEDGEN:356030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536696 {source="MONDO:equivalentTo"}
xref: OMIM:602418 {source="MONDO:equivalentTo"}
xref: UMLS:C1865566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356030"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10178/weyers-ulnar-rayoligodactyly-syndrome" xsd:anyURI {source="GARD:0010178"}

[Term]
id: MONDO:0011222
name: obsolete glaucoma 1, open angle, D
synonym: "glaucoma 1, open angle, D" EXACT [MONDO:Lexical, OMIM:602429]
synonym: "glaucoma 1D, primary open angle" EXACT [OMIM:602429, OMIM:genemap2]
synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:602429]
synonym: "GLC1D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602429]
xref: MESH:C566551 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:602429 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011223
name: amyotrophic lateral sclerosis type 4
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10502", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357043"}
subset: orphanet_rare {source="Orphanet:357043"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALS 4" EXACT [DOID:0060196, OMIM:602433]
synonym: "ALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602433, Orphanet:357043]
synonym: "amyotrophic lateral sclerosis 4" EXACT [DOID:0060196, OMIM:602433]
synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [DOID:0060196, MONDO:Lexical, OMIM:602433]
synonym: "amyotrophic lateral sclerosis caused by mutation in SETX" EXACT [MONDO:design_pattern]
synonym: "dHMN with upper motor neuron signs" EXACT [DOID:0060196, Orphanet:357043]
synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [DOID:0060196, OMIM:602433]
synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [DOID:0060196, Orphanet:357043]
synonym: "neuronopathy, distal hereditary motor, with pyramidal features" RELATED [OMIM:602433]
synonym: "SETX amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060196 {source="MONDO:equivalentTo"}
xref: GARD:10502 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:357043/attributed", source="Orphanet:357043/ntbt", source="Orphanet:357043", source="DOID:0060196"}
xref: MEDGEN:355983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566550 {source="MONDO:equivalentTo"}
xref: OMIM:602433 {source="Orphanet:357043/e", source="MONDO:equivalentTo", source="Orphanet:357043", source="DOID:0060196"}
xref: Orphanet:357043 {source="OMIM:602433", source="MONDO:equivalentTo", source="DOID:0060196"}
xref: UMLS:C1865409 {source="MONDO:equivalentTo", source="MEDGEN:355983", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DC-OMIM:602433", source="DOID:0060196", source="MESH:C566550", source="MONDO:Redundant", source="OMIM:602433", source="Orphanet:357043"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0024237 {source="MONDO:Entailed", source="Orphanet:357043"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/445 ! SETX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/445 {source="MONDO:mim2gene_medgen"} ! SETX
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4" xsd:anyURI {source="GARD:0010502"}

[Term]
id: MONDO:0011224
name: monomelic amyotrophy
def: "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." [Orphanet:65684]
subset: gard_rare {source="GARD:9697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65684"}
subset: orphanet_rare {source="Orphanet:65684"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyotrophy, monomelic" RELATED [OMIM:602440]
synonym: "benign focal amyotrophy" EXACT [Orphanet:65684]
synonym: "Hirayama disease" EXACT [OMIM:602440, Orphanet:65684]
synonym: "JMADUE" EXACT ABBREVIATION [Orphanet:65684]
synonym: "juvenile muscular atrophy of distal upper extremity" EXACT [Orphanet:65684]
synonym: "juvenile muscular atrophy of the distal upper limb" EXACT [Orphanet:65684]
synonym: "spinal muscular atrophy juvenile nonprogressive" RELATED [GARD:0009697]
synonym: "spinal muscular atrophy, juvenile, nonprogressive" RELATED [OMIM:602440]
xref: EFO:1001989 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9697 {source="MONDO:GARD"}
xref: ICD10CM:G12.8 {source="Orphanet:65684/ntbt", source="Orphanet:65684"}
xref: icd11.foundation:2090347823 {source="MONDO:equivalentTo", source="Orphanet:65684"}
xref: MedDRA:10069681 {source="Orphanet:65684/e", source="Orphanet:65684"}
xref: MEDGEN:356265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538253 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="Orphanet:65684"}
xref: OMIM:602440 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="Orphanet:65684"}
xref: Orphanet:65684 {source="MONDO:equivalentTo", source="OMIM:602440"}
xref: UMLS:C1865384 {source="MEDGEN:356265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020129 {source="Orphanet:65684"} ! acquired motor neuron disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy" xsd:anyURI {source="GARD:0009697"}

[Term]
id: MONDO:0011225
name: severe combined immunodeficiency due to DCLRE1C deficiency
def: "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." [Orphanet:275]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9987", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:275"}
subset: orphanet_rare {source="Orphanet:275"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "artemis deficiency" RELATED [DOID:0060006]
synonym: "Athabaskan Severe combined immunodeficiency" RELATED [OMIM:602450]
synonym: "DCLRE1C severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "RS-SCID" RELATED [OMIM:602450]
synonym: "SCID due to ARTEMIS deficiency" EXACT [Orphanet:275]
synonym: "SCID due to artemis deficiency" EXACT [DOID:0090012]
synonym: "SCID due to DCLRE1C deficiency" EXACT [DOID:0090012, Orphanet:275]
synonym: "SCID, Athabascan type" EXACT [DOID:0090012, Orphanet:275]
synonym: "SCID, Athabaskan type" EXACT [DOID:0090012, Orphanet:275]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation" RELATED OMO:0003005 []
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED [OMIM:602450]
synonym: "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C" EXACT []
synonym: "severe combined immunodeficiency due to ARTEMIS deficiency" EXACT [Orphanet:275]
synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT [DOID:0090012, MONDO:0000570]
synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT CLINGEN_LABEL [DOID:0090012]
synonym: "severe combined immunodeficiency with sensitivity to ionising radiation" RELATED OMO:0003005 []
synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation" RELATED [OMIM:602450]
synonym: "severe combined immunodeficiency, Athabascan type" RELATED [DOID:0090012, Orphanet:275]
synonym: "severe combined immunodeficiency, Athabaskan type" RELATED [DOID:0090012, Orphanet:275]
synonym: "severe combined immunodeficiency, Athabaskan-type" RELATED [OMIM:602450]
synonym: "severe combined immunodeficiency, partial" RELATED [OMIM:602450]
xref: DOID:0060006 {source="MONDO:equivalentObsolete"}
xref: DOID:0090012 {source="MONDO:equivalentTo"}
xref: GARD:9987 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="DOID:0090012", source="Orphanet:275/attributed", source="Orphanet:275/ntbt", source="Orphanet:275"}
xref: MEDGEN:355454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602450 {source="DOID:0090012", source="MONDO:equivalentTo", source="Orphanet:275/ntbt", source="Orphanet:275", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:231053 {source="GARD:0009987"}
xref: Orphanet:275 {source="DOID:0090012", source="MONDO:equivalentTo", source="OMIM:602450"}
xref: SCTID:715982006 {source="MONDO:equivalentTo"}
xref: UMLS:C1865370 {source="MEDGEN:355454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017855 {source="Orphanet:275", source="PMID:31953710"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0031520 {source="DOID:0060006", source="DOID:0090012", source="MONDO:Redundant", source="OMIM:602450", source="Orphanet:275/inferred"} ! familial severe combined immunodeficiency
intersection_of: MONDO:0015974 ! severe combined immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17642 ! DCLRE1C
relationship: disease_has_basis_in_disruption_of GO:0006281 {source="https://orcid.org/0000-0002-6601-2165"} ! DNA repair
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17642 {source="MONDO:mim2gene_medgen"} ! DCLRE1C
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation" xsd:anyURI {source="GARD:0009987"}

[Term]
id: MONDO:0011226
name: autosomal dominant nonsyndromic hearing loss 15
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 15" NARROW [DOID:0110546]
synonym: "autosomal dominant nonsyndromic deafness 15" NARROW [OMIM:602459]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in POU4F3" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 15" NARROW [DOID:0110546, MONDORULE:2]
synonym: "deafness, autosomal dominant 15" NARROW [MONDO:Lexical, OMIM:602459, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 15" NARROW [MONDORULE:2, OMIM:602459]
synonym: "DFNA15" NARROW ABBREVIATION [DOID:0110546, MONDO:Lexical, OMIM:602459]
synonym: "POU4F3 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110546 {source="MONDO:equivalentTo"}
xref: GARD:18109 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110546"}
xref: MEDGEN:355451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566545 {source="MONDO:equivalentTo"}
xref: OMIM:602459 {source="DOID:0110546", source="MONDO:equivalentTo"}
xref: UMLS:C1865366 {source="MEDGEN:355451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:602459", source="DOID:0110546", source="MONDO:Redundant", source="OMIM:602459"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9220 ! POU4F3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9220 {source="MONDO:mim2gene_medgen"} ! POU4F3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011227
name: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
subset: gard_rare {source="GARD:17633", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397623"}
subset: ordo_malformation_syndrome {source="Orphanet:397623"}
subset: orphanet_rare {source="Orphanet:397623"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602471]
synonym: "SAMS syndrome" EXACT [Orphanet:397623]
synonym: "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" RELATED [MONDO:Lexical, OMIM:602471]
synonym: "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" EXACT [OMIM:602471, OMIM:genemap2]
xref: GARD:17633 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:397623", source="Orphanet:397623/attributed", source="Orphanet:397623/ntbt"}
xref: MEDGEN:355971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566544 {source="MONDO:equivalentTo"}
xref: OMIM:602471 {source="MONDO:equivalentTo", source="Orphanet:397623", source="Orphanet:397623/e"}
xref: Orphanet:397623 {source="MONDO:equivalentTo", source="OMIM:602471"}
xref: SCTID:417081007 {source="MONDO:equivalentTo"}
xref: UMLS:C1865361 {source="MEDGEN:355971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015161 {source="Orphanet:397623"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4612 {source="MONDO:mim2gene_medgen"} ! GSC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0011228
name: creases, infra-auricular cutaneous, with tall stature and advanced bone age
synonym: "creases, infra-auricular cutaneous, with tall stature and advanced bone age" EXACT [OMIM:602472]
xref: MEDGEN:356259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566543 {source="MONDO:equivalentTo"}
xref: OMIM:602472 {source="MONDO:equivalentTo"}
xref: UMLS:C1865360 {source="MEDGEN:356259", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011229
name: ethylmalonic encephalopathy
def: "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities." [Orphanet:51188]
subset: gard_rare {source="GARD:2198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:51188"}
subset: orphanet_rare {source="Orphanet:51188"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602473]
synonym: "eme" RELATED [GARD:0002198]
synonym: "encephalopathy, ethylmalonic" RELATED [GARD:0002198, MONDO:Lexical, OMIM:602473]
synonym: "encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198]
synonym: "EPEMA syndrome" RELATED [GARD:0002198]
synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198]
xref: DOID:0060640 {source="MONDO:equivalentTo"}
xref: GARD:2198 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:51188", source="DOID:0060640", source="Orphanet:51188/attributed", source="Orphanet:51188/ntbt"}
xref: MEDGEN:355966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535737 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"}
xref: OMIM:602473 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"}
xref: Orphanet:51188 {source="DOID:0060640", source="MONDO:equivalentTo", source="OMIM:602473"}
xref: SCTID:723307008 {source="MONDO:equivalentTo"}
xref: UMLS:C1865349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355966"}
is_a: MONDO:0044970 {source="PMID:32923369", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23287 {source="MONDO:mim2gene_medgen"} ! ETHE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy" xsd:anyURI {source="GARD:0002198"}

[Term]
id: MONDO:0011230
name: ossification of the posterior longitudinal ligament of the spine
def: "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "OPLL" EXACT ABBREVIATION [DOID:0060887, MONDO:Lexical, OMIM:602475]
synonym: "ossification of Posterior longitudinal ligament" EXACT [NCIT:C84975]
synonym: "ossification of the POSTERIOR longitudinal ligament of spine" RELATED [MONDO:Lexical, OMIM:602475]
xref: DOID:0060887 {source="MONDO:equivalentTo"}
xref: EFO:0005895 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:355447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537143 {source="EFO:0005895", source="MONDO:equivalentTo"}
xref: NANDO:1200371 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84975 {source="EFO:0005895", source="MONDO:equivalentTo"}
xref: OMIM:602475 {source="EFO:0005895", source="MONDO:equivalentTo", source="DOID:0060887"}
xref: SCTID:90448008 {source="EFO:0005895", source="MONDO:equivalentTo"}
xref: UMLS:C1865343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355447"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0003900 {source="DOID:0060887"} ! connective tissue disorder
is_a: MONDO:0005172 {source="EFO:0005895"} ! skeletal system disorder

[Term]
id: MONDO:0011231
name: febrile seizures, familial, 2
subset: otar {source="MONDO:OTAR"}
synonym: "convulsions, familial febrile, 2" RELATED [OMIM:602477]
synonym: "FEB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602477]
synonym: "febrile seizures, familial, 2" EXACT [MONDO:Lexical, OMIM:602477]
synonym: "generalised epilepsy with febrile seizures plus, type 11" EXACT OMO:0003005 []
synonym: "generalized epilepsy with febrile seizures plus, type 11" EXACT [OMIM:602477, OMIM:genemap2]
xref: DOID:0111310 {source="MONDO:equivalentTo"}
xref: MEDGEN:355446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566541 {source="MONDO:equivalentTo"}
xref: OMIM:602477 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1865342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355446"}
is_a: MONDO:0000032 {source="DC-OMIM:602477", source="OMIM:602477"} ! febrile seizures, familial
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6280" xsd:anyURI

[Term]
id: MONDO:0011232
name: migraine, familial hemiplegic, 2
def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ATP1A2 familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial hemiplegic migraine type 2" RELATED [GARD:0010095]
synonym: "familial or sporadic hemiplegic migraine caused by mutation in ATP1A2" EXACT [MONDO:design_pattern]
synonym: "FHM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602481]
synonym: "hemiplegic migraine, familial type 2" RELATED [GARD:0010095]
synonym: "Mhp2" RELATED [OMIM:602481]
synonym: "migraine, familial basilar" RELATED [OMIM:602481]
synonym: "migraine, familial hemiplegic, 2" EXACT [MONDO:Lexical, OMIM:602481]
synonym: "migraine, familial hemiplegic, type 2" EXACT [MONDORULE:1, OMIM:602481]
xref: DOID:0111182 {source="MONDO:equivalentTo"}
xref: GARD:10095 {source="MONDO:GARD"}
xref: MEDGEN:355962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602481 {source="MONDO:equivalentTo"}
xref: Orphanet:569 {source="OMIM:602481"}
xref: UMLS:C1865322 {source="MEDGEN:355962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:602481", source="Orphanet:569/btnt"} ! familial hemiplegic migraine
intersection_of: MONDO:0000700 ! familial hemiplegic migraine
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 ! ATP1A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 {source="MONDO:mim2gene_medgen"} ! ATP1A2

[Term]
id: MONDO:0011233
name: Axenfeld-Rieger syndrome type 3
def: "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anterior chamber Cleavage syndrome" RELATED [OMIM:602482]
synonym: "anterior chamber cleavage syndrome" EXACT [DOID:0110122]
synonym: "anterior segment mesenchymal dysgenesis" RELATED [DOID:0110122, OMIM:602482]
synonym: "Axenfeld anomaly" RELATED [OMIM:602482]
synonym: "Axenfeld-Rieger anomaly" RELATED [OMIM:602482]
synonym: "Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss" RELATED [OMIM:602482]
synonym: "Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss" RELATED [OMIM:602482]
synonym: "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" EXACT [DOID:0110122]
synonym: "Axenfeld-Rieger syndrome caused by mutation in FOXC1" EXACT [MONDO:design_pattern]
synonym: "Axenfeld-Rieger syndrome type 3" EXACT CLINGEN_LABEL []
synonym: "Axenfeld-Rieger syndrome, type 3" RELATED [MONDO:Lexical, OMIM:602482]
synonym: "FOXC1 Axenfeld-Rieger syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RIEG3" EXACT ABBREVIATION [DOID:0110122, MONDO:Lexical, OMIM:602482]
synonym: "Rieger anomaly" RELATED [OMIM:602482]
synonym: "Rieger syndrome type 3" EXACT [DOID:0110122]
synonym: "Rieger syndrome, type 3" RELATED [OMIM:602482]
xref: DOID:0110122 {source="MONDO:equivalentTo"}
xref: GARD:9626 {source="MONDO:GARD"}
xref: ICD10CM:Q13.8 {source="DOID:0110122"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:394534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602482 {source="MONDO:equivalentTo", source="DOID:0110122"}
xref: Orphanet:782 {source="OMIM:602482"}
xref: Orphanet:91483 {source="MONDO:relatedTo", source="OMIM:602482"}
xref: Orphanet:98978 {source="MONDO:relatedTo", source="OMIM:602482"}
xref: SCTID:22155002 {source="MONDO:equivalentTo"}
xref: UMLS:C2678503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394534"}
is_a: MONDO:0019187 {source="DC-OMIM:602482", source="DOID:0110122", source="MONDO:Redundant", source="OMIM:602482"} ! Axenfeld-Rieger syndrome
is_a: MONDO:0100235 {source="https://clinicalgenome.org/affiliation/40077/"} ! FOXC1-related anterior segment dysgenesis
intersection_of: MONDO:0019187 ! Axenfeld-Rieger syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3800 ! FOXC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3800 {source="MONDO:mim2gene_medgen"} ! FOXC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5789" xsd:anyURI

[Term]
id: MONDO:0011234
name: auriculocondylar syndrome 1
def: "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCND1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602483]
synonym: "AURICULOCONDYLAR syndrome 1" RELATED [OMIM:602483]
synonym: "Auriculocondylar syndrome 1" EXACT [MONDO:Lexical, OMIM:602483]
synonym: "auriculocondylar syndrome caused by mutation in GNAI3" EXACT [MONDO:design_pattern]
synonym: "Auriculocondylar syndrome type 1" EXACT [MONDORULE:1, OMIM:602483]
synonym: "GNAI3 auriculocondylar syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "question Mark ears syndrome" RELATED [OMIM:602483]
xref: GARD:15346 {source="MONDO:GARD"}
xref: MEDGEN:1639644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602483 {source="MONDO:equivalentTo"}
xref: Orphanet:137888 {source="OMIM:602483"}
xref: UMLS:C4551996 {source="MEDGEN:1639644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000107 {source="DC-OMIM:602483", source="MONDO:Redundant", source="OMIM:602483"} ! auriculocondylar syndrome
intersection_of: MONDO:0000107 ! auriculocondylar syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4387 ! GNAI3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4387 {source="MONDO:mim2gene_medgen"} ! GNAI3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011235
name: pelvic dysplasia-arthrogryposis of lower limbs syndrome
subset: gard_rare {source="GARD:4269", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2840"}
subset: ordo_malformation_syndrome {source="Orphanet:2840"}
subset: orphanet_rare {source="Orphanet:2840"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pelvic dysplasia arthrogryposis of lower limbs" RELATED [GARD:0004269]
synonym: "pelvic hypoplasia with arthrogryposis of lower limbs" RELATED [GARD:0004269]
synonym: "pelvic hypoplasia with lower limb arthrogryposis" RELATED [GARD:0004269]
synonym: "pelvic hypoplasia with LOWER-limb arthrogryposis" RELATED [OMIM:602484]
synonym: "Ray-Peterson-Scott syndrome" EXACT [Orphanet:2840]
xref: GARD:4269 {source="MONDO:GARD"}
xref: MEDGEN:400731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535292 {source="Orphanet:2840", source="Orphanet:2840/e"}
xref: MESH:C535548 {source="Orphanet:2840", source="Orphanet:2840/e"}
xref: OMIM:602484 {source="Orphanet:2840", source="MONDO:equivalentTo", source="Orphanet:2840/e"}
xref: Orphanet:2840 {source="MONDO:equivalentTo", source="OMIM:602484"}
xref: UMLS:C1865294 {source="MONDO:equivalentTo", source="MEDGEN:400731", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011236
name: hyperinsulinism due to glucokinase deficiency
def: "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." [Orphanet:79299]
subset: gard_rare {source="GARD:2818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79299"}
subset: orphanet_rare {source="Orphanet:79299"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HHF3" RELATED ABBREVIATION [GARD:0009930, MONDO:Lexical, OMIM:602485]
synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [Orphanet:79299]
synonym: "hyperinsulinemic hypoglycemia familial 3" RELATED [GARD:0009930]
synonym: "hyperinsulinemic hypoglycemia, familial, 3" RELATED [MONDO:Lexical, OMIM:602485]
synonym: "hyperinsulinemic hypoglycemia, familial, type 3" EXACT [MONDORULE:1, OMIM:602485]
xref: DOID:0070216 {source="MONDO:equivalentTo"}
xref: GARD:2818 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:79299/attributed", source="Orphanet:79299/ntbt", source="Orphanet:79299"}
xref: MEDGEN:355435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538374 {source="MONDO:equivalentTo"}
xref: OMIM:602485 {source="Orphanet:79299/e", source="MONDO:equivalentTo", source="Orphanet:79299", source="GARD:0009930"}
xref: Orphanet:79299 {source="OMIM:602485", source="MONDO:equivalentTo"}
xref: SCTID:717182006 {source="MONDO:equivalentTo"}
xref: UMLS:C1865290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355435"}
is_a: MONDO:0005803 {source="DC-OMIM:602485"} ! hyperinsulinemic hypoglycemia
is_a: MONDO:0015624 {source="Orphanet:79299"} ! diazoxide-sensitive diffuse hyperinsulinism
is_a: MONDO:0017688 {source="Orphanet:79299", source="PMID:33340416"} ! disorder of glycolysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4195 {source="MONDO:mim2gene_medgen"} ! GCK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3" xsd:anyURI {source="GARD:0009930"}

[Term]
id: MONDO:0011237
name: hyperlipidemia, combined, 1
def: "An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "familial combined hyperlipidemia caused by mutation in USF1" EXACT [MONDO:design_pattern]
synonym: "hyperlipidemia, combined, 1" EXACT [OMIM:602491]
synonym: "hyperlipidemia, combined, type 1" EXACT [MONDORULE:1, OMIM:602491]
synonym: "hyperlipidemia, familial combined, 1" RELATED [OMIM:602491]
synonym: "hyperlipidemia, familial combined, susceptibility to" EXACT [OMIM:602491, OMIM:genemap2]
synonym: "hyplip1" RELATED [OMIM:602491]
synonym: "USF1 familial combined hyperlipidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:355434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566535 {source="MONDO:equivalentTo"}
xref: OMIM:602491 {source="MONDO:equivalentTo"}
xref: UMLS:C1865289 {source="MEDGEN:355434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12593 ! USF1
intersection_of: predisposes_towards MONDO:0001336 ! familial hyperlipidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12593 {source="MONDO:mim2gene_medgen"} ! USF1
relationship: predisposes_towards MONDO:0001336 {source="DC-OMIM:602491", source="MESH:C566535", source="MONDO:Redundant"} ! familial hyperlipidemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011238
name: chondrodysplasia punctata, brachytelephalangic, autosomal
subset: gard_rare {source="GARD:15347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachytelephalangic chondrodysplasia punctata" RELATED [OMIM:602497]
synonym: "chondrodysplasia punctata, brachytelephalangic, autosomal" EXACT [OMIM:602497]
xref: GARD:15347 {source="MONDO:GARD"}
xref: MEDGEN:337102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602497 {source="MONDO:equivalentTo"}
xref: UMLS:C1844853 {source="MEDGEN:337102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007321 {source="https://orcid.org/0000-0002-6601-2165"} ! autosomal dominant chondrodysplasia punctata

[Term]
id: MONDO:0011239
name: colobomatous macrophthalmia-microcornea syndrome
subset: gard_rare {source="GARD:17844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468672"}
subset: orphanet_rare {source="Orphanet:468672"}
subset: rare
synonym: "MACOM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602499]
synonym: "MACOM syndrome" EXACT [Orphanet:468672]
synonym: "macrophthalmia, colobomatous, with microcornea" RELATED [MONDO:Lexical, OMIM:602499]
xref: GARD:17844 {source="MONDO:GARD"}
xref: MEDGEN:400728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566533 {source="MONDO:equivalentTo"}
xref: OMIM:602499 {source="MONDO:equivalentTo", source="Orphanet:468672"}
xref: Orphanet:468672 {source="MONDO:equivalentTo"}
xref: UMLS:C1865286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400728"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0011240
name: megalencephaly-capillary malformation-polymicrogyria syndrome
def: "A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." [https://orcid.org/0000-0001-5208-3432, Orphanet:60040]
subset: gard_rare {source="GARD:6950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1423"}
subset: ordo_disorder {source="Orphanet:60040"}
subset: ordo_malformation_syndrome {source="Orphanet:60040"}
subset: orphanet_rare {source="Orphanet:60040"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "M-CM" RELATED [GARD:0006950]
synonym: "M-CMTC" RELATED [GARD:0006950]
synonym: "macrocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950]
synonym: "macrocephaly-capillary malformation" RELATED [OMIM:602501]
synonym: "macrocephaly-capillary malformation syndrome" EXACT [Orphanet:60040]
synonym: "macrocephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501]
synonym: "macrocephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040]
synonym: "MCAP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602501, Orphanet:60040]
synonym: "MCM" EXACT ABBREVIATION [Orphanet:60040]
synonym: "MCMTC" EXACT ABBREVIATION [Orphanet:60040]
synonym: "megalencephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950]
synonym: "Megalencephaly-Capillary Malformation" EXACT [NORD:1423]
synonym: "megalencephaly-capillary malformation syndrome" EXACT [OMIM:602501, Orphanet:60040]
synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome" EXACT [MONDO:Lexical, OMIM:602501]
synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic" EXACT [OMIM:602501, OMIM:genemap2]
synonym: "megalencephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501]
synonym: "megalencephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040]
synonym: "megalocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950]
xref: GARD:6950 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:60040/attributed", source="Orphanet:60040/ntbt", source="Orphanet:60040"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:355421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536142 {source="MONDO:equivalentTo"}
xref: NANDO:2200823 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1423 {source="MONDO:NORD"}
xref: OMIM:602501 {source="Orphanet:60040/e", source="MONDO:equivalentTo", source="Orphanet:60040"}
xref: Orphanet:60040 {source="OMIM:602501", source="MONDO:equivalentTo"}
xref: SCTID:703370002 {source="MONDO:equivalentTo"}
xref: UMLS:C1865285 {source="MEDGEN:355421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
is_a: MONDO:1040002 {source="PMID:23592320", source="PMID:23946963", source="PMID:25557259", source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3CA-related overgrowth spectrum
relationship: disease_has_feature HP:0001548 ! Overgrowth
relationship: disease_has_feature MONDO:0016231 ! capillary malformation
relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:60040", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete obsolete rare capillary malformation with associated anomalies
relationship: excluded_subClassOf MONDO:0019293 {source="MESH:C536142", source="Orphanet:60040", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease
relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:60040", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5210" xsd:anyURI

[Term]
id: MONDO:0011241
name: pseudoacromegaly with severe insulin resistance
synonym: "pseudoacromegaly with severe insulin resistance" EXACT [OMIM:602511]
xref: MEDGEN:400727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566531 {source="MONDO:equivalentTo"}
xref: OMIM:602511 {source="MONDO:equivalentTo"}
xref: UMLS:C1865284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400727"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011242
name: Bartter disease type 4A
def: "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BARTS4A" EXACT ABBREVIATION [DOID:0110145]
synonym: "Bartter disease type 4a" EXACT CLINGEN_LABEL []
synonym: "Bartter syndrome caused by mutation in BSND" EXACT [MONDO:design_pattern]
synonym: "Bartter syndrome type 4a" EXACT [DOID:0110145]
synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:602522]
synonym: "Bartter syndrome, neonatal, with sensorineural deafness" RELATED [OMIM:602522]
synonym: "Bartter syndrome, type 4A" RELATED [OMIM:602522]
synonym: "Bartter syndrome, type 4A, neonatal, with sensorineural deafness" RELATED [OMIM:602522]
synonym: "BSND" EXACT ABBREVIATION [DOID:0110145]
synonym: "BSND Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neonatal Bartter syndrome with sensorineural deafness" EXACT [DOID:0110145]
synonym: "sensorineural deafness with mild renal dysfunction" RELATED [OMIM:602522]
xref: DOID:0110145 {source="MONDO:equivalentTo"}
xref: GARD:15348 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="DOID:0110145"}
xref: MEDGEN:355430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602522 {source="MONDO:equivalentTo", source="DOID:0110145"}
xref: Orphanet:112 {source="OMIM:602522"}
xref: Orphanet:89938 {source="OMIM:602522"}
xref: SCTID:717791000 {source="MONDO:equivalentTo"}
xref: UMLS:C1865270 {source="MEDGEN:355430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015231 {source="DOID:0110145", source="MONDO:0011242/inferred", source="MONDO:Redundant", source="OMIM:602522"} ! Bartter syndrome
is_a: MONDO:0019524 {source="Orphanet:89938", source="https://orcid.org/0000-0001-5208-3432"} ! Bartter syndrome type 4
intersection_of: MONDO:0015231 ! Bartter syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16512 ! BSND
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16512 {source="MONDO:mim2gene_medgen"} ! BSND

[Term]
id: MONDO:0011243
name: grange syndrome
def: "Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." [Orphanet:79094]
subset: gard_rare {source="GARD:16697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79094"}
subset: ordo_malformation_syndrome {source="Orphanet:79094"}
subset: orphanet_rare {source="Orphanet:79094"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly" RELATED [OMIM:602531]
synonym: "grange occlusive arterial syndrome" EXACT [OMIM:602531, Orphanet:79094]
synonym: "grange syndrome" EXACT [OMIM:602531]
synonym: "GRNG" RELATED ABBREVIATION [OMIM:602531]
synonym: "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome" EXACT [Orphanet:79094]
xref: GARD:16697 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:79094/attributed", source="Orphanet:79094/ntbt", source="Orphanet:79094"}
xref: MEDGEN:355427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566529 {source="MONDO:equivalentTo"}
xref: OMIM:602531 {source="Orphanet:79094", source="MONDO:equivalentTo", source="Orphanet:79094/e"}
xref: Orphanet:79094 {source="OMIM:602531", source="MONDO:equivalentTo"}
xref: SCTID:717824007 {source="MONDO:equivalentTo"}
xref: UMLS:C1865267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355427"}
is_a: MONDO:0015161 {source="Orphanet:79094"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30935 {source="MONDO:mim2gene_medgen"} ! YY1AP1

[Term]
id: MONDO:0011244
name: Marshall-Smith syndrome
def: "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." [Orphanet:561]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:561"}
subset: ordo_malformation_syndrome {source="Orphanet:561"}
subset: orphanet_rare {source="Orphanet:561"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome" EXACT [Orphanet:561]
synonym: "Marshall-SMITH syndrome" RELATED [OMIM:602535]
synonym: "Marshall-Smith syndrome" EXACT [MONDO:Lexical, OMIM:602535]
synonym: "MRSHSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602535]
xref: DOID:0050858 {source="MONDO:equivalentTo"}
xref: GARD:6985 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:561/attributed", source="Orphanet:561/ntbt", source="Orphanet:561"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536026 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="Orphanet:561"}
xref: OMIM:602535 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="DOID:0050858", source="Orphanet:561"}
xref: Orphanet:561 {source="MONDO:equivalentTo", source="OMIM:602535", source="DOID:0050858"}
xref: SCTID:73284007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75551"}
is_a: MONDO:0002254 {source="DOID:0050858", source="MONDO:indirect"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:561"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0019716 {source="Orphanet:561"} ! overgrowth syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7788 {source="MONDO:mim2gene_medgen"} ! NFIX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome" xsd:anyURI {source="GARD:0006985"}

[Term]
id: MONDO:0011245
name: ichthyosis, hystrix-like, with hearing loss
subset: gard_rare {source="GARD:15349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HID syndrome" RELATED [OMIM:602540]
synonym: "hystrix-like ichthyosis with deafness" EXACT [OMIM:602540, OMIM:genemap2]
synonym: "ichthyosis, hystrix-like, with deafness" NARROW [OMIM:602540]
xref: GARD:15349 {source="MONDO:GARD"}
xref: MEDGEN:355410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566528 {source="MONDO:equivalentTo"}
xref: OMIM:602540 {source="MONDO:equivalentTo"}
xref: Orphanet:477 {source="OMIM:602540"}
xref: UMLS:C1865234 {source="MEDGEN:355410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018781 {source="Orphanet:477/btnt"} ! KID syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011246
name: megaconial type congenital muscular dystrophy
subset: gard_rare {source="GARD:10317", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280671"}
subset: orphanet_rare {source="Orphanet:280671"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital megaconial myopathy" EXACT [DOID:0110632, Orphanet:280671]
synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [DOID:0110632]
synonym: "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT [DOID:0110632, Orphanet:280671]
synonym: "MDCMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602541]
synonym: "megaconial congenital muscular dystrophy" EXACT [DOID:0110632, Orphanet:280671]
synonym: "megaconial congénital muscular dystrophy" RELATED [GARD:0010317]
synonym: "megaconial type congenital muscular dystrophy" EXACT CLINGEN_LABEL []
synonym: "muscular dystrophy, congenital, megaconial type" RELATED [MONDO:Lexical, OMIM:602541]
synonym: "muscular dystrophy, congenital, with mitochondrial structural abnormalities" RELATED [OMIM:602541]
xref: DOID:0110632 {source="MONDO:equivalentTo"}
xref: GARD:10317 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="DOID:0110632", source="Orphanet:280671", source="Orphanet:280671/attributed", source="Orphanet:280671/ntbt"}
xref: MEDGEN:355943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566527 {source="MONDO:equivalentTo"}
xref: OMIM:602541 {source="DOID:0110632", source="MONDO:equivalentTo", source="Orphanet:280671", source="Orphanet:280671/e"}
xref: Orphanet:280671 {source="OMIM:602541", source="DOID:0110632", source="MONDO:equivalentTo"}
xref: UMLS:C1865233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355943"}
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0019950 {source="DOID:0110632", source="Orphanet:280671"} ! congenital muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1938 {source="MONDO:mim2gene_medgen"} ! CHKB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type" xsd:anyURI {source="GARD:0010317"}

[Term]
id: MONDO:0011247
name: jejunal atresia with renal adysplasia
synonym: "jejunal atresia with renal adysplasia" EXACT [OMIM:602551]
xref: MEDGEN:400708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537567 {source="MONDO:equivalentTo"}
xref: OMIM:602551 {source="MONDO:equivalentTo"}
xref: UMLS:C1865209 {source="MEDGEN:400708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia" xsd:anyURI {source="GARD:0009985"}

[Term]
id: MONDO:0011248
name: distal monosomy 13q
def: "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." [Orphanet:1590]
subset: gard_rare {source="GARD:16571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1590"}
subset: ordo_malformation_syndrome {source="Orphanet:1590"}
subset: orphanet_rare {source="Orphanet:1590"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "13q32 deletion" EXACT [Orphanet:1590]
synonym: "anal atresia, hypospadias, and penoscrotal inversion" RELATED [OMIM:602553]
synonym: "deletion 13q32" EXACT [Orphanet:1590]
synonym: "distal 13q deletion" EXACT [Orphanet:1590]
synonym: "distal monosomy type 13q" EXACT [MONDORULE:4, Orphanet:1590]
synonym: "monosomy 13q32" EXACT [Orphanet:1590]
synonym: "telomeric deletion13q" EXACT [Orphanet:1590]
xref: GARD:16571 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1590/attributed", source="Orphanet:1590/ntbt", source="Orphanet:1590"}
xref: MEDGEN:355405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566526 {source="MONDO:equivalentTo"}
xref: OMIM:602553 {source="Orphanet:1590/e", source="MONDO:equivalentTo", source="Orphanet:1590"}
xref: Orphanet:1590 {source="OMIM:602553", source="MONDO:equivalentTo"}
xref: SCTID:763527007 {source="MONDO:equivalentTo"}
xref: UMLS:C1865208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355405"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0016911 {source="Orphanet:1590"} ! partial deletion of the long arm of chromosome 13
relationship: disease_arises_from_structure CHR:9606-chr13q {source="https://orcid.org/0000-0002-4142-7153"} ! 13q (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1590", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0011249
name: torsion dystonia with onset in infancy
def: "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." [DOID:0090058]
subset: gard_rare {source="GARD:9631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "torsion dystonia with onset in infancy" EXACT [OMIM:602554]
xref: DOID:0090058 {source="MONDO:equivalentTo"}
xref: GARD:9631 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="DOID:0090058"}
xref: MEDGEN:400706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536969 {source="MONDO:equivalentTo"}
xref: OMIM:602554 {source="DOID:0090058", source="MONDO:equivalentTo"}
xref: Orphanet:256 {source="OMIM:602554", source="DOID:0090058"}
xref: UMLS:C1865205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400706"}
is_a: MONDO:0007492 {source="Orphanet:256/btnt"} ! early-onset generalized limb-onset dystonia

[Term]
id: MONDO:0011250
name: microcephaly, macrotia, and intellectual disability
synonym: "microcephaly, macrotia, and intellectual disability" EXACT [OMIM:602555]
synonym: "microcephaly, macrotia, and mental retardation" EXACT DEPRECATED [OMIM:602555]
xref: MEDGEN:355403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566525 {source="MONDO:equivalentTo"}
xref: OMIM:602555 {source="MONDO:equivalentTo"}
xref: UMLS:C1865204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355403"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011251
name: facial dysmorphism, cleft palate, hearing loss, and camptodactyly
synonym: "facial dysmorphism, cleft palate, hearing loss, and camptodactyly" EXACT [OMIM:602556]
xref: MEDGEN:400705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566524 {source="MONDO:equivalentTo"}
xref: OMIM:602556 {source="MONDO:equivalentTo"}
xref: UMLS:C1865203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400705"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011252
name: spondyloepimetaphyseal dysplasia, Shohat type
def: "A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." [https://orcid.org/0000-0001-5208-3432, Orphanet:93352]
subset: gard_rare {source="GARD:4980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93352"}
subset: orphanet_rare {source="Orphanet:93352"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMD Shohat type" RELATED [GARD:0004980]
synonym: "SEMD, Shohat type" EXACT [OMIM:602557, Orphanet:93352]
synonym: "SEMDSH" RELATED ABBREVIATION [OMIM:602557]
synonym: "spondyloepimetaphyseal dysplasia Shohat type" RELATED [GARD:0004980]
synonym: "spondyloepimetaphyseal dysplasia, Shohat type" EXACT [OMIM:602557]
xref: GARD:4980 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93352/attributed", source="Orphanet:93352/ntbt", source="Orphanet:93352"}
xref: MEDGEN:400703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566523 {source="MONDO:equivalentTo"}
xref: OMIM:602557 {source="Orphanet:93352", source="MONDO:equivalentTo", source="Orphanet:93352/e"}
xref: Orphanet:93352 {source="MONDO:equivalentTo", source="OMIM:602557"}
xref: SCTID:719201004 {source="MONDO:equivalentTo"}
xref: UMLS:C1865185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400703"}
is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:602557", source="Orphanet:93352", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type" xsd:anyURI {source="GARD:0004980"}

[Term]
id: MONDO:0011253
name: craniomicromelic syndrome
def: "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." [Orphanet:1524]
subset: gard_rare {source="GARD:1583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1524"}
subset: ordo_malformation_syndrome {source="Orphanet:1524"}
subset: orphanet_rare {source="Orphanet:1524"}
subset: rare
synonym: "craniomicromelic syndrome" EXACT [OMIM:602558]
xref: GARD:1583 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1524", source="Orphanet:1524/attributed", source="Orphanet:1524/ntbt"}
xref: MEDGEN:355396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566522 {source="MONDO:equivalentTo"}
xref: OMIM:602558 {source="MONDO:equivalentTo", source="Orphanet:1524", source="Orphanet:1524/e"}
xref: Orphanet:1524 {source="MONDO:equivalentTo", source="OMIM:602558"}
xref: SCTID:725098001 {source="MONDO:equivalentTo"}
xref: UMLS:C1865184 {source="MEDGEN:355396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015338 {source="Orphanet:1524"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID: 8533844", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome" xsd:anyURI {source="GARD:0001583"}

[Term]
id: MONDO:0011254
name: brachydactyly, intraventricular septal defect, and deafness
synonym: "brachydactyly, intraventricular septal defect, and deafness" EXACT [OMIM:602561]
xref: MEDGEN:355395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566521 {source="MONDO:equivalentTo"}
xref: OMIM:602561 {source="MONDO:equivalentTo"}
xref: UMLS:C1865182 {source="MEDGEN:355395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011255
name: mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
subset: gard_rare {source="GARD:17547", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357158"}
subset: orphanet_rare {source="Orphanet:357158"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macroblepharon, ectropion, hypertelorism, and macrostomia" RELATED [OMIM:602562]
synonym: "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" EXACT [Orphanet:357158]
synonym: "mandibulofacial dysostosis with macroblepharon and macrostomia" RELATED [OMIM:602562]
synonym: "Verloes-Lesenfants syndrome" RELATED [OMIM:602562]
xref: GARD:17547 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:357158", source="Orphanet:357158/attributed", source="Orphanet:357158/ntbt"}
xref: MEDGEN:355927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566520 {source="MONDO:equivalentTo"}
xref: OMIM:602562 {source="Orphanet:357158", source="MONDO:equivalentTo", source="Orphanet:357158/e"}
xref: Orphanet:357158 {source="OMIM:602562", source="MONDO:equivalentTo"}
xref: UMLS:C1865181 {source="MEDGEN:355927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015483 {source="Orphanet:357158"} ! mandibulofacial dysostosis
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0011256
name: emphysema, congenital, with deafness, penoscrotal web, and intellectual disability
synonym: "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" EXACT [OMIM:602564]
synonym: "emphysema, congenital, with deafness, penoscrotal web, and mental retardation" EXACT DEPRECATED [OMIM:602564]
xref: MEDGEN:355926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566519 {source="MONDO:equivalentTo"}
xref: OMIM:602564 {source="MONDO:equivalentTo"}
xref: UMLS:C1865180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355926"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011257
name: MPI-congenital disorder of glycosylation
def: "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." [Orphanet:79319]
subset: gard_rare {source="GARD:9830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79319"}
subset: orphanet_rare {source="Orphanet:79319"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IB" EXACT [Orphanet:79319]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1B" RELATED [GARD:0009830]
synonym: "CDG 1B" RELATED [GARD:0009830]
synonym: "CDG gastrointestinal type" RELATED [GARD:0009830]
synonym: "CDG Ib" RELATED [OMIM:602579]
synonym: "CDG syndrome type IB" EXACT [Orphanet:79319]
synonym: "CDG, gastrointestinal type" RELATED [OMIM:602579]
synonym: "CDG-Ib" EXACT [Orphanet:79319]
synonym: "CDG1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602579, Orphanet:79319]
synonym: "congenital disorder of glycosylation type 1b" EXACT [Orphanet:79319]
synonym: "congenital disorder of glycosylation type IB" EXACT [Orphanet:79319]
synonym: "congenital disorder of glycosylation, type IB" RELATED [MONDO:Lexical, OMIM:602579]
synonym: "Mannosephosphate isomerase deficiency" RELATED [OMIM:602579]
synonym: "Mpi deficiency" RELATED [OMIM:602579]
synonym: "MPI-CDG" EXACT ABBREVIATION [Orphanet:79319]
synonym: "MPI-CDG (CDG-Ib)" RELATED [GARD:0009830]
synonym: "phosphomannose isomerase deficiency" EXACT [Orphanet:79319]
synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" RELATED [OMIM:602579]
synonym: "Saguenay Lac Saint Jean syndrome" RELATED [GARD:0009830]
synonym: "Saguenay-Lac Saint-Jean syndrome" RELATED [OMIM:602579]
synonym: "SLSJ syndrome" RELATED [GARD:0009830]
synonym: "Slsj syndrome" RELATED [OMIM:602579]
xref: DOID:0080554 {source="MONDO:equivalentTo"}
xref: GARD:9830 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79319/attributed", source="Orphanet:79319/ntbt", source="Orphanet:79319"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:400692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535740 {source="MONDO:equivalentTo"}
xref: OMIM:602579 {source="Orphanet:79319", source="MONDO:equivalentTo", source="Orphanet:79319/e"}
xref: Orphanet:79319 {source="MONDO:equivalentTo", source="OMIM:602579"}
xref: SCTID:124668009 {source="MONDO:equivalentTo"}
xref: UMLS:C1865145 {source="MEDGEN:400692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:602579"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535740", source="MONDO:0011257/inferred", source="MONDO:Redundant", source="OMIM:602579", source="Orphanet:79319/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79319"} ! disorder of protein N-glycosylation
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7216 {source="MONDO:mim2gene_medgen"} ! MPI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0011258
name: branchiootic syndrome 1
def: "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anterior segment anomalies with or without cataract" RELATED [OMIM:602588]
synonym: "bo syndrome 1" RELATED [OMIM:602588]
synonym: "BOS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602588]
synonym: "branchiootic dysplasia" RELATED [OMIM:602588]
synonym: "branchiootic syndrome 1" EXACT [MONDO:Lexical, OMIM:602588]
synonym: "branchiootic syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern]
synonym: "branchiootic syndrome type 1" EXACT [MONDORULE:1, OMIM:602588]
synonym: "EYA1 branchiootic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:351307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602588 {source="MONDO:equivalentTo"}
xref: Orphanet:52429 {source="OMIM:602588"}
xref: UMLS:C1865143 {source="MEDGEN:351307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018878 {source="DC-OMIM:602588", source="MONDO:Redundant"} ! branchiootic syndrome
intersection_of: MONDO:0018878 ! branchiootic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 ! EYA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 {source="MONDO:mim2gene_medgen"} ! EYA1

[Term]
id: MONDO:0011259
name: retinitis pigmentosa 22
def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1." [DOID:0110400, PMID:9545639]
subset: gard_rare {source="GARD:10393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 22" EXACT [MONDO:Lexical, OMIM:602594]
synonym: "retinitis pigmentosa type 22" EXACT [DOID:0110400, MONDORULE:2]
synonym: "RP 22" RELATED [GARD:0010393]
synonym: "RP22" EXACT ABBREVIATION [DOID:0110400, MONDO:Lexical, OMIM:602594]
xref: DOID:0110400 {source="MONDO:equivalentTo"}
xref: GARD:10393 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110400"}
xref: MEDGEN:854689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602594 {source="MONDO:equivalentTo", source="DOID:0110400"}
xref: Orphanet:791 {source="OMIM:602594"}
xref: UMLS:C3887981 {source="MEDGEN:854689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:602594", source="DOID:0110400", source="OMIM:602594"} ! retinitis pigmentosa
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10393/retinitis-pigmentosa-22" xsd:anyURI {source="GARD:0010393"}

[Term]
id: MONDO:0011260
name: pancreatic lymphoma, familial
def: "An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: predisposition
subset: rare
synonym: "hereditary pancreas lymphoma" EXACT [MONDO:patterns/hereditary]
synonym: "pancreatic lymphoma, familial" EXACT [OMIM:602596]
xref: MEDGEN:355383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566516 {source="MONDO:equivalentTo"}
xref: OMIM:602596 {source="MONDO:equivalentTo"}
xref: UMLS:C1865139 {source="MEDGEN:355383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0002114 ! pancreas lymphoma
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0011261
name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:163649]
subset: gard_rare {source="GARD:16993", source="MONDO:GARD"}
subset: n_of_one {source="OMIM:602611"}
subset: ordo_disorder {source="Orphanet:163649"}
subset: orphanet_rare {source="Orphanet:163649"}
subset: rare
synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" EXACT [OMIM:602611]
synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" EXACT DEPRECATED [OMIM:602611]
synonym: "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome" EXACT [Orphanet:163649]
xref: DOID:0112294 {source="MONDO:equivalentTo"}
xref: GARD:16993 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:163649/attributed", source="Orphanet:163649/ntbt", source="Orphanet:163649"}
xref: MEDGEN:355919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566515 {source="MONDO:equivalentTo"}
xref: OMIM:602611 {source="Orphanet:163649/e", source="MONDO:equivalentTo", source="Orphanet:163649"}
xref: Orphanet:163649 {source="OMIM:602611", source="MONDO:equivalentTo"}
xref: SCTID:718766002 {source="MONDO:equivalentTo"}
xref: UMLS:C1865134 {source="MEDGEN:355919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="Orphanet:163649"} ! spondyloepiphyseal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:163649", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011262
name: camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
def: "A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." [Orphanet:1323]
subset: gard_rare {source="GARD:216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1323"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:1323"}
subset: rare
synonym: "camptodactyly, joint contractures, facial skeletal defects" RELATED [GARD:0000216]
synonym: "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" EXACT [GARD:0000216, OMIM:602612]
synonym: "Rozin hertz Goodman syndrome" RELATED [GARD:0000216]
xref: GARD:216 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1323"}
xref: MEDGEN:355918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535876 {source="MONDO:equivalentTo"}
xref: OMIM:602612 {source="Orphanet:1323", source="MONDO:equivalentTo", source="GARD:0000216"}
xref: Orphanet:1323 {source="MONDO:equivalentTo", source="OMIM:602612", source="GARD:0000216"}
xref: SCTID:715986009 {source="MONDO:equivalentTo"}
xref: UMLS:C1865133 {source="MEDGEN:355918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015161 {source="Orphanet:1323"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0011263
name: skeletal dysplasia and progressive central nervous system degeneration, lethal
synonym: "skeletal dysplasia and progressive central nervous system degeneration, lethal" EXACT [OMIM:602613]
xref: MEDGEN:400685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566514 {source="MONDO:equivalentTo"}
xref: OMIM:602613 {source="MONDO:equivalentTo"}
xref: UMLS:C1865117 {source="MEDGEN:400685", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011264
name: torsion dystonia 6
def: "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases." [Orphanet:98806]
subset: gard_rare {source="GARD:9630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98806"}
subset: orphanet_rare {source="Orphanet:98806"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adolescent-onset dystonia of mixed type" RELATED [GARD:0009630]
synonym: "dystonia 6" RELATED [GARD:0009630]
synonym: "dystonia 6, torsion" RELATED [MONDO:Lexical, OMIM:602629]
synonym: "DYT-THAP1" EXACT [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602629, Orphanet:98806]
synonym: "generalised cervical and upper-limb-onset dystonia" EXACT OMO:0003005 []
synonym: "generalised isolated dystonia caused by mutation in THAP1" EXACT OMO:0003005 []
synonym: "generalized cervical and upper-limb-onset dystonia" EXACT [Orphanet:98806]
synonym: "generalized isolated dystonia caused by mutation in THAP1" EXACT [MONDO:design_pattern]
synonym: "idiopathic torsion dystonia of mixed type" EXACT [Orphanet:98806]
synonym: "primary dystonia, DYT6 type" RELATED [Orphanet:98806]
synonym: "THAP1 generalised isolated dystonia" EXACT OMO:0003005 []
synonym: "THAP1 generalized isolated dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "torsion dystonia adult onset mixed type" RELATED [GARD:0009630]
synonym: "torsion dystonia type 6" EXACT [DOID:0090039, MONDORULE:1]
synonym: "torsion dystonia, adult-onset, mixed type" RELATED [OMIM:602629]
xref: DOID:0090039 {source="MONDO:equivalentTo"}
xref: GARD:9630 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:98806", source="DOID:0090039", source="Orphanet:98806/attributed", source="Orphanet:98806/ntbt"}
xref: MEDGEN:236274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538003 {source="MONDO:equivalentTo"}
xref: NANDO:1200517 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C156361 {source="MONDO:equivalentTo"}
xref: OMIM:602629 {source="Orphanet:98806/e", source="MONDO:equivalentTo", source="Orphanet:98806", source="DOID:0090039"}
xref: Orphanet:98806 {source="MONDO:equivalentTo", source="DOID:0090039", source="OMIM:602629"}
xref: SCTID:702448007 {source="MONDO:equivalentTo"}
xref: UMLS:C1414216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236274"}
is_a: MONDO:0000476 {source="MONDO:Redundant", source="Orphanet:98806"} ! generalized dystonia
is_a: MONDO:0044807 {source="DOID:0090039/inferred", source="MESH:C538003/inferred", source="MONDO:Redundant", source="OMIM:602629"} ! inherited dystonia
intersection_of: MONDO:0000476 ! generalized dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20856 ! THAP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20856 {source="MONDO:mim2gene_medgen"} ! THAP1

[Term]
id: MONDO:0011265
name: tooth agenesis, selective, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hypodontia/oligodontia 2" RELATED [OMIM:602639]
synonym: "STHAG2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602639]
synonym: "tooth agenesis, selective, 2" EXACT [MONDO:Lexical, OMIM:602639]
xref: MEDGEN:400679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566513 {source="MONDO:equivalentTo"}
xref: OMIM:602639 {source="MONDO:equivalentTo"}
xref: Orphanet:2227 {source="OMIM:602639"}
xref: UMLS:C1865092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400679"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:602639", source="OMIM:602639"} ! tooth agenesis

[Term]
id: MONDO:0011266
name: myotonic dystrophy type 2
def: "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." [Orphanet:606]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:9728", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:606"}
subset: orphanet_rare {source="Orphanet:606"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CNBP myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602668]
synonym: "dystrophia myotonica 2" RELATED [OMIM:602668]
synonym: "dystrophia myotonica type 2" RELATED [GARD:0009728]
synonym: "myotonic dystrophy 2" RELATED [MONDO:Lexical, OMIM:602668]
synonym: "myotonic dystrophy caused by mutation in CNBP" EXACT [MONDO:design_pattern]
synonym: "myotonic dystrophy type 2" EXACT [MONDORULE:1, OMIM:602668, Orphanet:606]
synonym: "myotonic myopathy, proximal" RELATED [OMIM:602668]
synonym: "PROMM" RELATED ABBREVIATION [GARD:0009728]
synonym: "proximal myotonic dystrophy" EXACT [Orphanet:606]
synonym: "proximal myotonic myopathy" EXACT [DOID:0050759]
synonym: "ricker disease" EXACT [Orphanet:606]
synonym: "ricker syndrome" EXACT [OMIM:602668, Orphanet:606]
xref: DOID:0050759 {source="MONDO:equivalentTo"}
xref: GARD:9728 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/attributed", source="Orphanet:606/ntbt"}
xref: ICD10CM:G71.19 {source="DOID:0050759"}
xref: ICD9:359.2 {source="DOID:0050759"}
xref: MEDGEN:419137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020967 {source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/e"}
xref: NCIT:C122789 {source="MONDO:relatedTo", source="DOID:0050759"}
xref: NCIT:C122790 {source="MONDO:relatedTo", source="DOID:0050759"}
xref: NCIT:C84680 {source="MONDO:equivalentTo"}
xref: NCIT:C84913 {source="DOID:0050759"}
xref: OMIM:602668 {source="MONDO:equivalentTo", source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/e"}
xref: Orphanet:606 {source="MONDO:equivalentTo", source="OMIM:602668"}
xref: SCTID:155096007 {source="DOID:0050759"}
xref: SCTID:193237003 {source="DOID:0050759"}
xref: SCTID:193240003 {source="DOID:0050759"}
xref: SCTID:267713009 {source="DOID:0050759"}
xref: SCTID:41574007 {source="MONDO:relatedTo", source="DOID:0050759"}
xref: UMLS:C2931689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419137"}
is_a: MONDO:0016107 {source="DC-OMIM:602668", source="DOID:0050759", source="MONDO:Redundant", source="NCIT:C84680", source="OMIM:602668", source="Orphanet:606"} ! myotonic dystrophy
intersection_of: MONDO:0016107 ! myotonic dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13164 ! CNBP
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13164 {source="MONDO:mim2gene_medgen"} ! CNBP
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2" xsd:anyURI {source="GARD:0009728"}

[Term]
id: MONDO:0011267
name: intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration
synonym: "intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration" EXACT [OMIM:602685]
synonym: "mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration" RELATED DEPRECATED [OMIM:602685]
synonym: "mental retardation, severe, with spasticity and tapetoretinal degeneration" EXACT [OMIM:602685, OMIM:genemap2]
synonym: "Mrst" RELATED [OMIM:602685]
xref: MEDGEN:351159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566429 {source="MONDO:equivalentTo"}
xref: OMIM:602685 {source="MONDO:equivalentTo"}
xref: UMLS:C1864549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351159"}
is_a: MONDO:0003847 {source="MESH:C566429/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011268
name: renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
subset: gard_rare {source="GARD:15350", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "classical distal renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "classical distal RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "distal renal tubular acidosis 3, with or without sensorineural hearing loss" EXACT [OMIM:602722, OMIM:genemap2]
synonym: "renal tubular acidosis, autosomal recessive with preserved hearing" RELATED [GARD:0004669]
synonym: "renal tubular acidosis, autosomal recessive, with preserved hearing" RELATED [OMIM:602722]
synonym: "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" EXACT CLINGEN_LABEL []
synonym: "renal tubular acidosis, distal, autosomal recessive" EXACT [MONDO:Lexical, OMIM:602722]
synonym: "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss" RELATED [OMIM:602722]
synonym: "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included" RELATED [GARD:0004669]
synonym: "RTA, distal, autosomal recessive" RELATED [OMIM:602722]
synonym: "RTADR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602722]
synonym: "type 1 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "type 1 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
xref: GARD:15350 {source="MONDO:GARD"}
xref: MEDGEN:1732975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602722 {source="MONDO:equivalentTo"}
xref: Orphanet:18 {source="OMIM:602722"}
xref: Orphanet:402041 {source="OMIM:602722"}
xref: UMLS:C5399980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1732975"}
is_a: MONDO:0001909 {source="DC-OMIM:602722"} ! renal tubular acidosis
is_a: MONDO:0018440 {source="Orphanet:402041/btnt"} ! autosomal recessive distal renal tubular acidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/866 {source="MONDO:mim2gene_medgen"} ! ATP6V0A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011269
name: psoriasis 2
def: "Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CARD14 psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "psoriasis 2" EXACT [MONDO:Lexical, OMIM:602723]
synonym: "psoriasis caused by mutation in CARD14" EXACT [MONDO:design_pattern]
synonym: "psoriasis type 2" EXACT [MONDORULE:1, OMIM:602723]
synonym: "PSORS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602723]
xref: DOID:0080475 {source="MONDO:equivalentTo"}
xref: MEDGEN:351141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200443 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:602723 {source="MONDO:equivalentTo"}
xref: UMLS:C1864497 {source="MEDGEN:351141", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005083 {source="DC-OMIM:602723", source="MONDO:Redundant", source="OMIM:602723"} ! psoriasis
intersection_of: MONDO:0005083 ! psoriasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 ! CARD14
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 {source="MONDO:mim2gene_medgen"} ! CARD14

[Term]
id: MONDO:0011270
name: prostate cancer, hereditary, 8
subset: gard_rare {source="GARD:15351", source="MONDO:GARD"}
subset: rare
synonym: "HPC8" RELATED ABBREVIATION [OMIM:602759]
synonym: "predisposing for prostate cancer" RELATED [OMIM:602759]
synonym: "prostate cancer, hereditary, 8" EXACT [OMIM:602759]
synonym: "prostate cancer, hereditary, type 8" EXACT [MONDORULE:1, OMIM:602759]
synonym: "prostate cancer, susceptibility to" RELATED [OMIM:602759, OMIM:genemap2]
xref: GARD:15351 {source="MONDO:GARD"}
xref: MEDGEN:400539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566426 {source="MONDO:equivalentTo"}
xref: OMIM:602759 {source="MONDO:equivalentTo"}
xref: UMLS:C1864472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400539"}
is_a: MONDO:0008315 {source="DC-OMIM:602759", source="MONDO:0011270/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011271
name: rigid spine muscular dystrophy 1
def: "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." [NCIT:C126691]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic MmD" BROAD [DOID:0110633]
synonym: "classic multiminicore disease" BROAD [DOID:0110633]
synonym: "classic multiminicore myopathy" BROAD [DOID:0110633]
synonym: "congenital merosin-positive muscular dystrophy with early spine rigidity" EXACT [DOID:0110633]
synonym: "desmin-related myopathy with Mallory bodies" EXACT [DOID:0110633, OMIM:602771]
synonym: "desmin-related myopathy with Mallory body-like inclusions" RELATED EXCLUDE [DOID:0110633]
synonym: "early-onset desmin-related myopathy" RELATED EXCLUDE [DOID:0110633]
synonym: "Eichsfeld type congenital muscular dystrophy" EXACT [DOID:0110633]
synonym: "MDRS1" EXACT ABBREVIATION [DOID:0110633]
synonym: "minicore myopathy, severe classic form" EXACT [OMIM:602771]
synonym: "multicore myopathy, severe classic form" EXACT [OMIM:602771]
synonym: "multiminicore disease, severe classic form" EXACT [OMIM:602771]
synonym: "muscular dystrophy, congenital, Eichsfeld type" EXACT [OMIM:602771]
synonym: "muscular dystrophy, congenital, merosin-positive, with early spine rigidity" EXACT [OMIM:602771]
synonym: "muscular dystrophy, rigid spine, 1" EXACT [OMIM:602771, OMIM:genemap2]
synonym: "myopathy, SEPN1-related" EXACT [OMIM:602771]
synonym: "rigid spine muscular dystrophy 1" EXACT [MONDO:Lexical, OMIM:602771]
synonym: "rigid spine muscular dystrophy type 1" EXACT [DOID:0110633, MONDORULE:1, OMIM:602771]
synonym: "rigid spine syndrome" BROAD [DOID:0110633, OMIM:602771]
synonym: "rigid spine syndrome caused by mutation in SELENON" EXACT [MONDO:design_pattern]
synonym: "RSMD1" EXACT ABBREVIATION [DOID:0110633, MONDO:Lexical, OMIM:602771]
synonym: "RSS" EXACT ABBREVIATION [DOID:0110633]
synonym: "SELENON rigid spine syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SEPN1-related myopathy" RELATED [DOID:0110633]
synonym: "severe classic form minicore myopathy" EXACT [DOID:0110633]
synonym: "severe classic form multicore myopathy" EXACT [DOID:0110633]
synonym: "severe classic form multiminicore disease" EXACT [DOID:0110633]
xref: DOID:0110633 {source="MONDO:equivalentTo"}
xref: ICD10CM:G71.2 {source="DOID:0110633"}
xref: ICD10CM:G71.8 {source="DOID:0110633"}
xref: MEDGEN:98047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535683 {source="DOID:0110633"}
xref: NCIT:C126691 {source="MONDO:equivalentTo"}
xref: OMIM:602771 {source="DOID:0110633", source="MONDO:equivalentTo"}
xref: Orphanet:324604 {source="DOID:0110633", source="OMIM:602771"}
xref: Orphanet:598 {source="OMIM:602771"}
xref: Orphanet:84132 {source="DOID:0110633", source="OMIM:602771"}
xref: Orphanet:97244 {source="DOID:0110633", source="OMIM:602771"}
xref: SCTID:240063002 {source="MONDO:equivalentTo"}
xref: UMLS:C0410180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98047"}
is_a: MONDO:0018948 {source="Orphanet:598/btnt"} ! multiminicore myopathy
is_a: MONDO:0019950 {source="DOID:0110633", source="MONDO:0011271/inferred", source="MONDO:Redundant"} ! congenital muscular dystrophy
is_a: MONDO:0019951 {source="MONDO:Redundant"} ! rigid spine syndrome
is_a: MONDO:0019952 {source="OMIM:602771"} ! congenital myopathy
is_a: MONDO:0020121 {source="DOID:0110633/inferred", source="MONDO:Redundant", source="NCIT:C126691"} ! muscular dystrophy
intersection_of: MONDO:0019951 ! rigid spine syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15999 ! SELENON
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15999 {source="MONDO:mim2gene_medgen"} ! SELENON
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011272
name: retinitis pigmentosa 25
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10384", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EYS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 25" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:602772]
synonym: "retinitis pigmentosa caused by mutation in EYS" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 25" EXACT [DOID:0110384, MONDORULE:2, OMIM:602772]
synonym: "RP 25" RELATED [GARD:0010384]
synonym: "RP25" EXACT ABBREVIATION [DOID:0110384, MONDO:Lexical, OMIM:602772]
xref: DOID:0110384 {source="MONDO:equivalentTo"}
xref: GARD:10384 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110384"}
xref: MEDGEN:350427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566425 {source="MONDO:equivalentTo"}
xref: OMIM:602772 {source="MONDO:equivalentTo", source="DOID:0110384"}
xref: UMLS:C1864446 {source="MEDGEN:350427", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:602772", source="DOID:0110384", source="MESH:C566425", source="MONDO:Redundant", source="OMIM:602772"} ! retinitis pigmentosa
is_a: MONDO:0800391 {source="https://clinicalgenome.org/affiliation/40072/"} ! EYS-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21555 ! EYS
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21555 {source="MONDO:mim2gene_medgen"} ! EYS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10384/retinitis-pigmentosa-25" xsd:anyURI {source="GARD:0010384"}

[Term]
id: MONDO:0011273
name: H syndrome
def: "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." [https://orcid.org/0000-0001-5208-3432, Orphanet:168569]
subset: gard_rare {source="GARD:10239", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168569"}
subset: ordo_malformation_syndrome {source="Orphanet:168569"}
subset: orphanet_rare {source="Orphanet:168569"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Asrar Facharzt Haque syndrome" EXACT [MONDO:0021937]
synonym: "Faisalabad histiocytosis" RELATED [OMIM:602782]
synonym: "H syndrome" EXACT [OMIM:602782]
synonym: "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness" RELATED [OMIM:602782]
synonym: "histiocytosis with Joint contractures and sensorineural deafness" RELATED [OMIM:602782]
synonym: "histiocytosis-lymphadenopathy plus syndrome" RELATED [OMIM:602782]
synonym: "HJCD" RELATED ABBREVIATION [GARD:0010239]
synonym: "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss" RELATED [OMIM:602782]
synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" RELATED [OMIM:602782]
synonym: "Rosai-Dorfman disease, familial" RELATED [OMIM:602782]
synonym: "sinus histiocytosis and massive lymphadenopathy" RELATED [OMIM:602782]
synonym: "SLC29A3 spectrum disorder" RELATED [GARD:0010239]
xref: DOID:0111278 {source="MONDO:equivalentTo"}
xref: GARD:10239 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:168569", source="Orphanet:168569/attributed", source="Orphanet:168569/ntbt"}
xref: MEDGEN:400532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535391 {source="MONDO:equivalentTo"}
xref: MESH:C538322 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NANDO:2200457 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:602782 {source="MONDO:equivalentTo", source="Orphanet:168569", source="Orphanet:168569/e"}
xref: Orphanet:158014 {source="OMIM:602782", source="MONDO:relatedTo"}
xref: Orphanet:168569 {source="OMIM:602782", source="MONDO:equivalentTo"}
xref: SCTID:711159002 {source="MONDO:equivalentTo"}
xref: UMLS:C1864445 {source="MEDGEN:400532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004382 {source="MESH:C535391", source="MESH:C535391/inferred"} ! laryngeal disorder
is_a: MONDO:0006412 {source="MESH:C535391"} ! sinus histiocytosis with massive lymphadenopathy
is_a: MONDO:0019289 {source="Orphanet:168569"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:Redundant", source="Orphanet:168569", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0005147 {source="Orphanet:168569", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015886", source="MONDO:0015967"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23096 {source="MONDO:mim2gene_medgen"} ! SLC29A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome" xsd:anyURI {source="GARD:0000581"}

[Term]
id: MONDO:0011274
name: Muenke syndrome
def: "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." [Orphanet:53271]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7097", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53271"}
subset: ordo_malformation_syndrome {source="Orphanet:53271"}
subset: orphanet_rare {source="Orphanet:53271"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FGFR3-related craniosynostosis" EXACT [DOID:0060703]
synonym: "MNKES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602849]
synonym: "Muenke nonsyndromic coronal craniosynostosis" RELATED [OMIM:602849]
synonym: "Muenke syndrome" EXACT [MONDO:Lexical, OMIM:602849]
synonym: "syndrome of coronal craniosynostosis" RELATED [GARD:0007097]
xref: DOID:0060703 {source="MONDO:equivalentTo"}
xref: GARD:7097 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="DOID:0060703", source="Orphanet:53271/attributed", source="Orphanet:53271/ntbt", source="Orphanet:53271"}
xref: MEDGEN:355217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537369 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"}
xref: NCIT:C84904 {source="MONDO:equivalentTo"}
xref: OMIM:602849 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"}
xref: Orphanet:53271 {source="MONDO:equivalentTo", source="DOID:0060703", source="OMIM:602849"}
xref: SCTID:440350001 {source="MONDO:equivalentTo"}
xref: UMLS:C1864436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355217"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84904", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015338 {source="Orphanet:53271", source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome" xsd:anyURI {source="GARD:0007097"}

[Term]
id: MONDO:0011275
name: acromesomelic dysplasia 1, Maroteaux type
def: "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." [Orphanet:40]
subset: gard_rare {source="GARD:507", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:40"}
subset: ordo_malformation_syndrome {source="Orphanet:40"}
subset: orphanet_rare {source="Orphanet:40"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acromesomelic dwarfism Maroteux type" RELATED [GARD:0000507]
synonym: "acromesomelic dysplasia 1, Maroteaux type" EXACT [OMIM:602875, OMIM:genemap2]
synonym: "acromesomelic dysplasia Maroteaux type" RELATED [GARD:0000507]
synonym: "acromesomelic dysplasia, Maroteaux type" EXACT [MONDO:Lexical, OMIM:602875]
synonym: "AMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602875]
synonym: "St. Helena dysplasia" RELATED [OMIM:602875]
xref: DOID:0080050 {source="MONDO:equivalentTo"}
xref: GARD:507 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:40/attributed", source="Orphanet:40/ntbt", source="Orphanet:40"}
xref: MEDGEN:355199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535661 {source="Orphanet:40/e", source="MONDO:equivalentTo", source="Orphanet:40"}
xref: OMIM:602875 {source="Orphanet:40/e", source="MONDO:equivalentTo", source="DOID:0080050", source="Orphanet:40"}
xref: Orphanet:40 {source="OMIM:602875", source="MONDO:equivalentTo"}
xref: SCTID:718559000 {source="MONDO:equivalentTo"}
xref: UMLS:C1864356 {source="MEDGEN:355199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019696 {source="OMIM:602875", source="PMID:31633310"} ! acromesomelic dysplasia
intersection_of: MONDO:0019696 ! acromesomelic dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 ! NPR2
relationship: disease_has_feature HP:0003510 ! Severe short stature
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 {source="MONDO:mim2gene_medgen"} ! NPR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type" xsd:anyURI {source="GARD:0000507"}

[Term]
id: MONDO:0011276
name: orofacial cleft 2
synonym: "cleft lip with or without cleft palate, nonsyndromic, 2" RELATED [OMIM:602966]
synonym: "OFC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602966]
synonym: "orofacial cleft 2" EXACT [MONDO:Lexical, OMIM:602966]
xref: DOID:0080396 {source="MONDO:equivalentTo"}
xref: MEDGEN:400499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566419 {source="MONDO:equivalentTo"}
xref: OMIM:602966 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:602966"}
xref: UMLS:C1864323 {source="MEDGEN:400499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:602966"} ! orofacial cleft

[Term]
id: MONDO:0011277
name: obsolete leukoregulin
synonym: "leukoregulin" EXACT [OMIM:602994]
xref: OMIM:602994 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0011278
name: obsolete bile duct cysts
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3613" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018805

[Term]
id: MONDO:0011279
name: autosomal recessive nonsyndromic hearing loss 17
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31." [DOID:0110472, PMID:15293785]
subset: gard_rare {source="GARD:22593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 17" NARROW [DOID:0110472]
synonym: "autosomal recessive nonsyndromic deafness 17" NARROW [OMIM:603010]
synonym: "autosomal recessive nonsyndromic deafness type 17" NARROW [DOID:0110472, MONDORULE:2]
synonym: "deafness, autosomal recessive 17" NARROW [MONDO:Lexical, OMIM:603010, OMIM:genemap2]
synonym: "DFNB17" NARROW ABBREVIATION [DOID:0110472, MONDO:Lexical, OMIM:603010]
xref: DOID:0110472 {source="MONDO:equivalentTo"}
xref: GARD:22593 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110472"}
xref: MEDGEN:355180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566418 {source="MONDO:equivalentTo"}
xref: OMIM:603010 {source="MONDO:equivalentTo", source="DOID:0110472"}
xref: UMLS:C1864276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355180"}
is_a: MONDO:0019588 {source="DC-OMIM:603010", source="DOID:0110472", source="OMIM:603010"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011280
name: schizophrenia 6
def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21." [DOID:0070082]
synonym: "schizophrenia 6" EXACT [MONDO:Lexical, OMIM:603013]
synonym: "schizophrenia susceptibility locus, chromosome 8P-related" EXACT [OMIM:603013]
synonym: "SCZD6" EXACT ABBREVIATION [DOID:0070082, MONDO:Lexical, OMIM:603013]
xref: DOID:0070082 {source="MONDO:equivalentTo"}
xref: MEDGEN:350380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603013 {source="MONDO:equivalentTo", source="DOID:0070082"}
xref: UMLS:C1864275 {source="MEDGEN:350380", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100182 {source="DC-OMIM:603013", source="DOID:0070082"} ! schizophrenia, susceptibility to
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7997 {source="MONDO:mim2gene_medgen"} ! NRG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011281
name: congenital myasthenic syndrome 5
def: "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." [NCIT:C129304]
subset: gard_rare {source="GARD:18210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS Ic" EXACT [DOID:0110667]
synonym: "Cms Ic" RELATED [OMIM:603034]
synonym: "Cms Ic, formerly" RELATED [OMIM:603034]
synonym: "CMS5" EXACT ABBREVIATION [DOID:0110667, MONDO:Lexical, OMIM:603034]
synonym: "COLQ congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital myasthenic syndrome 5" EXACT CLINGEN_LABEL []
synonym: "congenital myasthenic syndrome caused by mutation in COLQ" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome Engel type" EXACT [DOID:0110667]
synonym: "congenital myasthenic syndrome type 5" EXACT [DOID:0110667, MONDORULE:1]
synonym: "congenital myasthenic syndrome type Ic" EXACT [DOID:0110667, OMIM:603034]
synonym: "congenital myasthenic syndrome type Ic, formerly" RELATED [OMIM:603034]
synonym: "EAD" EXACT ABBREVIATION [DOID:0110667]
synonym: "end plate acetylcholinesterase deficiency" EXACT [DOID:0110667]
synonym: "endplate acetylcholinesterase deficiency" RELATED [OMIM:603034]
synonym: "Engel congenital myasthenic syndrome" EXACT [DOID:0110667, OMIM:603034]
synonym: "myasthenic syndrome, congenital, 5" RELATED [MONDO:Lexical, OMIM:603034]
synonym: "myasthenic syndrome, congenital, Engel type" RELATED [OMIM:603034]
synonym: "myasthenic syndrome, congenital, type 5" EXACT [MONDORULE:1, OMIM:603034]
xref: DOID:0110667 {source="MONDO:equivalentTo"}
xref: GARD:18210 {source="MONDO:GARD"}
xref: MEDGEN:400481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566415 {source="MONDO:equivalentTo"}
xref: NANDO:1201056 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129304 {source="MONDO:equivalentTo"}
xref: OMIM:603034 {source="DOID:0110667", source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:603034"}
xref: Orphanet:98915 {source="OMIM:603034"}
xref: UMLS:C1864233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400481"}
is_a: MONDO:0018940 {source="DOID:0110667", source="MESH:C566415", source="MONDO:Redundant", source="NCIT:C129304", source="OMIM:603034"} ! congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2226 ! COLQ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2226 {source="MONDO:mim2gene_medgen"} ! COLQ

[Term]
id: MONDO:0011282
name: tumor suppressor gene on chromosome 11
synonym: "nonsmall cell lung cancer" EXACT [OMIM:603040, OMIM:genemap2]
synonym: "Nonsmall cell lung cancer suppressor" RELATED [OMIM:603040]
synonym: "Tsg11" RELATED [OMIM:603040]
synonym: "tumor suppressor gene on chromosome 11" EXACT [OMIM:603040]
synonym: "tumor suppressor Gene on chromosome type 11" EXACT [MONDORULE:2, OMIM:603040]
synonym: "tumour suppressor Gene on chromosome type 11" EXACT OMO:0003005 []
xref: MEDGEN:355171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603040 {source="MONDO:equivalentTo"}
xref: UMLS:C1864232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355171"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011283
name: mitochondrial DNA depletion syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial DNA depletion syndrome 1" EXACT CLINGEN_LABEL []
synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" RELATED [MONDO:Lexical, OMIM:603041]
synonym: "mitochondrial DNA depletion syndrome type 1" EXACT [DOID:0080119, MONDORULE:1]
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related" RELATED [OMIM:603041]
synonym: "Mngie, tymp-related" RELATED [OMIM:603041]
synonym: "MTDPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603041]
synonym: "myoneurogastrointestinal encephalopathy syndrome" RELATED [OMIM:603041]
synonym: "Polip syndrome" RELATED [OMIM:603041]
synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" RELATED [OMIM:603041]
xref: DOID:0080119 {source="MONDO:equivalentTo"}
xref: MEDGEN:1631838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603041 {source="MONDO:equivalentTo", source="DOID:0080119"}
xref: Orphanet:298 {source="MONDO:relatedTo", source="OMIM:603041"}
xref: UMLS:C4551995 {source="MEDGEN:1631838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018158 {source="DC-OMIM:603041", source="OMIM:603041"} ! mitochondrial DNA depletion syndrome

[Term]
id: MONDO:0011284
name: astigmatism
def: "Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)" [MESH:D001251]
synonym: "astigmatism" EXACT [MONDO:ambiguous, OMIM:603047]
synonym: "astigmatism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: CSP:1116-1831 {source="DOID:11782"}
xref: DOID:11782 {source="MONDO:equivalentTo"}
xref: HP:0000483 {source="MONDO:otherHierarchy", source="DOID:11782"}
xref: ICD10CM:H52.2 {source="DOID:11782"}
xref: ICD10CM:H52.20 {source="DOID:11782"}
xref: ICD9:367.2 {source="DOID:11782"}
xref: ICD9:367.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11782"}
xref: MEDGEN:2473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001251 {source="MONDO:equivalentTo", source="DOID:11782"}
xref: OMIM:603047 {source="MONDO:equivalentTo", source="DOID:11782"}
xref: SCTID:155134009 {source="DOID:11782"}
xref: SCTID:193626006 {source="DOID:11782"}
xref: SCTID:193627002 {source="DOID:11782"}
xref: SCTID:82649003 {source="MONDO:equivalentTo", source="DOID:11782"}
xref: UMLS:C0004106 {source="MEDGEN:2473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004892 {source="DOID:11782", source="MESH:D001251"} ! refractive error
property_value: IAO:0000589 "astigmatism (disease)" xsd:string

[Term]
id: MONDO:0011285
name: age related macular degeneration 1
def: "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." [DOID:0110014, PMID:14570714, PMID:9715689]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 1" EXACT [DOID:0110014, MONDORULE:1]
synonym: "age related maculopathy 1" EXACT [DOID:0110014]
synonym: "ARMD1" EXACT ABBREVIATION [DOID:0110014, MONDO:Lexical, OMIM:603075]
synonym: "macular degeneration, age-related" BROAD [OMIM:603075, OMIM:genemap2]
synonym: "macular degeneration, age-related, 1" RELATED [MONDO:Lexical, OMIM:603075]
synonym: "macular degeneration, age-related, reduced risk of" EXACT [OMIM:603075, OMIM:genemap2]
synonym: "macular Degeneration, age-related, type 1" EXACT [MONDORULE:1, OMIM:603075]
synonym: "maculopathy, age-related, 1" RELATED [OMIM:603075]
xref: DOID:0110014 {source="MONDO:equivalentTo"}
xref: MEDGEN:400475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566411 {source="MONDO:equivalentTo"}
xref: OMIM:603075 {source="MONDO:equivalentTo", source="DOID:0110014"}
xref: UMLS:C1864205 {source="MEDGEN:400475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:603075", source="DOID:0110014", source="OMIM:603075"} ! age-related macular degeneration
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011286
name: autosomal recessive nonsyndromic hearing loss 13
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36." [DOID:0110468, PMID:9781028]
subset: gard_rare {source="GARD:22594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 13" NARROW [DOID:0110468]
synonym: "autosomal recessive nonsyndromic deafness 13" NARROW [OMIM:603098]
synonym: "autosomal recessive nonsyndromic deafness type 13" NARROW [DOID:0110468, MONDORULE:2]
synonym: "deafness, autosomal recessive 13" NARROW [MONDO:Lexical, OMIM:603098, OMIM:genemap2]
synonym: "DFNB13" NARROW ABBREVIATION [DOID:0110468, MONDO:Lexical, OMIM:603098]
xref: DOID:0110468 {source="MONDO:equivalentTo"}
xref: GARD:22594 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110468"}
xref: MEDGEN:350361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566410 {source="MONDO:equivalentTo"}
xref: OMIM:603098 {source="DOID:0110468", source="MONDO:equivalentTo"}
xref: UMLS:C1864199 {source="MEDGEN:350361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:603098", source="DOID:0110468", source="OMIM:603098"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011287
name: craniosynostosis-anal anomalies-porokeratosis syndrome
def: "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." [Orphanet:85199]
subset: gard_rare {source="GARD:9506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85199"}
subset: ordo_malformation_syndrome {source="Orphanet:85199"}
subset: orphanet_rare {source="Orphanet:85199"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAP syndrome" EXACT [OMIM:603116, Orphanet:85199]
synonym: "CDAGS syndrome" EXACT [OMIM:603116, Orphanet:85199]
synonym: "craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations" RELATED [GARD:0009506]
synonym: "craniosynostosis, anal anomalies, and porokeratosis" RELATED [OMIM:603116]
xref: GARD:9506 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85199", source="Orphanet:85199/attributed", source="Orphanet:85199/ntbt"}
xref: MEDGEN:351066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536789 {source="Orphanet:85199", source="MONDO:equivalentTo", source="Orphanet:85199/e"}
xref: OMIM:603116 {source="Orphanet:85199", source="MONDO:equivalentTo", source="Orphanet:85199/e"}
xref: Orphanet:85199 {source="OMIM:603116", source="MONDO:equivalentTo"}
xref: SCTID:720812002 {source="MONDO:equivalentTo"}
xref: UMLS:C1864186 {source="MONDO:equivalentTo", source="MEDGEN:351066", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:85199"} ! syndromic craniosynostosis
is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia

[Term]
id: MONDO:0011288
name: spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal
synonym: "spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal" RELATED [OMIM:603117]
xref: MEDGEN:351065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566409 {source="MONDO:equivalentTo"}
xref: OMIM:603117 {source="MONDO:equivalentTo"}
xref: UMLS:C1864185 {source="MEDGEN:351065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566409/inferred"} ! hereditary disease

[Term]
id: MONDO:0011289
name: apraxia of eyelid opening
synonym: "apraxia of eyelid opening" EXACT [OMIM:603119]
xref: MEDGEN:350360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603119 {source="MONDO:equivalentTo"}
xref: UMLS:C1864184 {source="MEDGEN:350360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011290
name: dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability
synonym: "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability" EXACT [OMIM:603133]
synonym: "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation" EXACT DEPRECATED [OMIM:603133]
xref: MEDGEN:350359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566408 {source="MONDO:equivalentTo"}
xref: OMIM:603133 {source="MONDO:equivalentTo"}
xref: UMLS:C1864183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350359"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011291
name: ALG6-congenital disorder of glycosylation 1C
def: "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." [Orphanet:79320]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79320"}
subset: orphanet_rare {source="Orphanet:79320"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG6 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ALG6-CDG" RELATED [Orphanet:79320]
synonym: "ALG6-CDG (CDG-Ic)" EXACT [GARD:0009829]
synonym: "ALG6-CDG1C" EXACT ABBREVIATION [Orphanet:79320]
synonym: "ALG6-congenital disorder of glycosylation 1C" EXACT CLINGEN_LABEL []
synonym: "carbohydrate deficient glycoprotein syndrome type Ic" EXACT [Orphanet:79320]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1C" RELATED [GARD:0009829]
synonym: "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)" RELATED [GARD:0009829]
synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide" RELATED [OMIM:603147]
synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly" RELATED [OMIM:603147]
synonym: "carbohydrate-deficient glycoprotein syndrome, type V" RELATED [OMIM:603147]
synonym: "carbohydrate-deficient glycoprotein syndrome, type V (formerly)" RELATED [GARD:0009829]
synonym: "carbohydrate-deficient glycoprotein syndrome, type V, formerly" RELATED [OMIM:603147]
synonym: "CDG 1C" RELATED [GARD:0009829]
synonym: "CDG Ic" RELATED [OMIM:603147]
synonym: "CDG syndrome type Ic" EXACT [Orphanet:79320]
synonym: "CDG-Ic" EXACT [Orphanet:79320]
synonym: "CDG1C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603147, Orphanet:79320]
synonym: "CDGIc" EXACT [NCIT:C126869]
synonym: "CDGS5 (formerly)" RELATED [GARD:0009829]
synonym: "congenital disorder of glycosylation caused by mutation in ALG6" EXACT [MONDO:design_pattern]
synonym: "congenital disorder of glycosylation type 1C" EXACT [Orphanet:79320]
synonym: "congenital disorder of glycosylation type Ic" EXACT [Orphanet:79320]
synonym: "congenital disorder of glycosylation, type Ic" RELATED [MONDO:Lexical, OMIM:603147]
synonym: "glucosyltransferase 1 deficiency" EXACT [Orphanet:79320]
xref: DOID:0080555 {source="MONDO:equivalentTo"}
xref: GARD:9829 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79320", source="Orphanet:79320/attributed", source="Orphanet:79320/ntbt"}
xref: MEDGEN:443952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535741 {source="MONDO:equivalentTo"}
xref: NCIT:C126869 {source="MONDO:equivalentTo"}
xref: OMIM:603147 {source="Orphanet:79320/e", source="MONDO:equivalentTo", source="Orphanet:79320"}
xref: Orphanet:79320 {source="OMIM:603147", source="MONDO:equivalentTo"}
xref: SCTID:709412006 {source="MONDO:equivalentTo"}
xref: UMLS:C2930997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443952"}
is_a: MONDO:0005500 {source="DC-OMIM:603147"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535741", source="MONDO:0011291/inferred", source="MONDO:Redundant", source="NCIT:C126869", source="OMIM:603147", source="Orphanet:79320/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79320"} ! disorder of protein N-glycosylation
intersection_of: MONDO:0015286 ! congenital disorder of glycosylation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23157 ! ALG6
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23157 {source="MONDO:mim2gene_medgen"} ! ALG6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011292
name: dermatitis, atopic
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0004980 atopic eczema
subset: obsoletion_candidate
synonym: "ATOD" EXACT ABBREVIATION [OMIM:603165]
synonym: "dermatitis, atopic" EXACT [OMIM:603165]
synonym: "eczema, atopic" EXACT [OMIM:603165]
xref: MEDGEN:350353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003876 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: OMIM:603165 {source="MONDO:equivalentTo"}
xref: UMLS:C1864155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350353"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004980 {source="DC-OMIM:603165", source="OMIM:603165"} ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7712" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0011293
name: obsolete Homocysteinemia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3247" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004743

[Term]
id: MONDO:0011294
name: schizophrenia 5
def: "A schizophrenia that has material basis in a mutation on chromosome 6q13-q26." [DOID:0070081]
synonym: "schizophrenia 5" EXACT [MONDO:Lexical, OMIM:603175]
synonym: "schizophrenia 5 with or without an affective disorder" RELATED [OMIM:603175]
synonym: "schizophrenia susceptibility locus, chromosome 6Q-related" RELATED [OMIM:603175]
synonym: "SCZD5" EXACT ABBREVIATION [DOID:0070081, MONDO:Lexical, OMIM:603175]
xref: DOID:0070081 {source="MONDO:equivalentTo"}
xref: MEDGEN:350351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603175 {source="MONDO:equivalentTo", source="DOID:0070081"}
xref: UMLS:C1864153 {source="MONDO:equivalentTo", source="MEDGEN:350351", source="MONDO:MEDGEN"}
is_a: MONDO:0005090 {source="DC-OMIM:603175", source="DOID:0070081"} ! schizophrenia

[Term]
id: MONDO:0011295
name: schizophrenia 7
def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32." [DOID:0070083]
synonym: "schizophrenia 7" EXACT [MONDO:Lexical, OMIM:603176]
synonym: "schizophrenia 7 with or without an affective disorder" RELATED [OMIM:603176]
synonym: "schizophrenia susceptibility locus, chromosome 13Q-related" RELATED [OMIM:603176]
synonym: "SCZD7" EXACT ABBREVIATION [DOID:0070083, MONDO:Lexical, OMIM:603176]
xref: DOID:0070083 {source="MONDO:equivalentTo"}
xref: MEDGEN:350350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603176 {source="MONDO:equivalentTo", source="DOID:0070083"}
xref: UMLS:C1864152 {source="MEDGEN:350350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005090 {source="DC-OMIM:603176", source="DOID:0070083"} ! schizophrenia

[Term]
id: MONDO:0011296
name: Meckel syndrome, type 2
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:8743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Meckel syndrome 2" RELATED [DOID:0070116]
synonym: "Meckel syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome type 2" RELATED [GARD:0008743]
synonym: "Meckel syndrome, type 2" EXACT [MONDO:Lexical, OMIM:603194]
synonym: "Meckel-Gruber syndrome, type 2" EXACT [DOID:0070116, OMIM:603194]
synonym: "MKS2" EXACT ABBREVIATION [DOID:0070116, MONDO:Lexical, OMIM:603194]
synonym: "TMEM216 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070116 {source="MONDO:equivalentTo"}
xref: GARD:8743 {source="MONDO:GARD"}
xref: ICD10CM:Q61.9 {source="DOID:0070116"}
xref: MEDGEN:351059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536131 {source="MONDO:equivalentTo"}
xref: OMIM:603194 {source="MONDO:equivalentTo", source="DOID:0070116"}
xref: Orphanet:564 {source="OMIM:603194"}
xref: UMLS:C1864148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351059"}
is_a: MONDO:0018921 {source="DC-OMIM:603194", source="DOID:0070116", source="MONDO:Redundant", source="OMIM:603194"} ! Meckel syndrome
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25018 ! TMEM216
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25018 {source="MONDO:mim2gene_medgen"} ! TMEM216
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2" xsd:anyURI {source="GARD:0008743"}

[Term]
id: MONDO:0011297
name: autosomal dominant nocturnal frontal lobe epilepsy 2
def: "An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24." [DOID:0060683, PMID:9758605]
subset: gard_rare {source="GARD:15352", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 2" EXACT [DOID:0060683, MONDORULE:1]
synonym: "ENFL2" EXACT ABBREVIATION [DOID:0060683, MONDO:Lexical, OMIM:603204]
synonym: "epilepsy, nocturnal frontal lobe, 2" RELATED [MONDO:Lexical, OMIM:603204]
synonym: "epilepsy, nocturnal frontal lobe, type 2" EXACT [OMIM:603204, OMIM:genemap2]
synonym: "nocturnal frontal lobe epilepsy 2" EXACT [DOID:0060683]
xref: DOID:0060683 {source="MONDO:equivalentTo"}
xref: GARD:15352 {source="MONDO:GARD"}
xref: MEDGEN:351053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566400 {source="MONDO:equivalentTo"}
xref: OMIM:603204 {source="DOID:0060683", source="MONDO:equivalentTo"}
xref: Orphanet:98784 {source="OMIM:603204"}
xref: UMLS:C1864125 {source="MEDGEN:351053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000030 {source="DC-OMIM:603204", source="OMIM:603204"} ! sleep-related hypermotor epilepsy
is_a: MONDO:0020300 {source="DOID:0060683"} ! autosomal dominant nocturnal frontal lobe epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011298
name: schizophrenia 8
def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p." [DOID:0070084]
synonym: "schizophrenia 8" EXACT [MONDO:Lexical, OMIM:603206]
synonym: "schizophrenia 8 with or without an affective disorder" RELATED [OMIM:603206]
synonym: "schizophrenia susceptibility locus, chromosome 18-related" RELATED [OMIM:603206]
synonym: "SCZD8" EXACT ABBREVIATION [DOID:0070084, MONDO:Lexical, OMIM:603206]
xref: DOID:0070084 {source="MONDO:equivalentTo"}
xref: MEDGEN:400456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603206 {source="MONDO:equivalentTo", source="DOID:0070084"}
xref: UMLS:C1864124 {source="MONDO:equivalentTo", source="MEDGEN:400456", source="MONDO:MEDGEN"}
is_a: MONDO:0005090 {source="DC-OMIM:603206", source="DOID:0070084"} ! schizophrenia

[Term]
id: MONDO:0011299
name: Huntington disease-like 1
def: "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157941"}
subset: orphanet_rare {source="Orphanet:157941"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Huntington-like neurodegenerative disorder" EXACT [DOID:0090103]
synonym: "early-onset prion disease with prominent psychiatric features" EXACT [DOID:0090103, Orphanet:157941]
synonym: "HDL1" EXACT ABBREVIATION [DOID:0090103, MONDO:Lexical, OMIM:603218, Orphanet:157941]
synonym: "HLN1" EXACT ABBREVIATION [DOID:0090103]
synonym: "Huntington disease-like 1" EXACT [MONDO:Lexical, OMIM:603218]
synonym: "Huntington disease-like type 1" EXACT [DOID:0090103, MONDORULE:1, OMIM:603218, Orphanet:157941]
synonym: "Huntington's disease-like 1" RELATED [DOID:0090103]
synonym: "Huntington-like neurodegenerative disorder 1" EXACT [DOID:0090103, OMIM:603218]
synonym: "Huntington-like neurodegenerative disorder, autosomal dominant" RELATED [OMIM:603218]
synonym: "neurodegenerative disease with chorea caused by mutation in PRNP" EXACT [MONDO:design_pattern]
synonym: "prion disease, early-onset, with prominent psychiatric features" RELATED [OMIM:603218]
synonym: "PRNP neurodegenerative disease with chorea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090103 {source="MONDO:equivalentTo"}
xref: GARD:16985 {source="MONDO:GARD"}
xref: ICD10CM:G10 {source="Orphanet:157941/attributed", source="Orphanet:157941/ntbt", source="Orphanet:157941", source="DOID:0090103"}
xref: MEDGEN:355137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566398 {source="MONDO:equivalentTo"}
xref: OMIM:603218 {source="Orphanet:157941", source="MONDO:equivalentTo", source="DOID:0090103", source="Orphanet:157941/e"}
xref: Orphanet:157941 {source="MONDO:equivalentTo", source="OMIM:603218", source="DOID:0090103"}
xref: UMLS:C1864112 {source="MEDGEN:355137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005429 {source="DOID:0090103", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! prion disease
is_a: MONDO:0024237 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0000167 {source="DC-OMIM:603218", source="https://orcid.org/0000-0001-5208-3432"} ! Huntington disease and related disorders
relationship: excluded_subClassOf MONDO:0005395 {source="https://orcid.org/0000-0001-5208-3432"} ! movement disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011300
name: myopia 3, autosomal dominant
synonym: "myopia 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:603221]
synonym: "myopia-3" EXACT [OMIM:603221, OMIM:genemap2]
synonym: "MYP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603221]
xref: MEDGEN:400454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566397 {source="MONDO:equivalentTo"}
xref: OMIM:603221 {source="MONDO:equivalentTo"}
xref: UMLS:C1864111 {source="MEDGEN:400454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:603221", source="MESH:C566397", source="OMIM:603221"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011301
name: pseudohypoparathyroidism type 1B
def: "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." [Orphanet:94089]
subset: gard_rare {source="GARD:10680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94089"}
subset: orphanet_rare {source="Orphanet:94089"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Php 1B" RELATED [OMIM:603233]
synonym: "PHP1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603233]
synonym: "pseudohypoparathyroidism Ib" EXACT [OMIM:603233, OMIM:genemap2]
synonym: "pseudohypoparathyroidism type IB" RELATED [DOID:0080222]
synonym: "pseudohypoparathyroidism, type 1B" RELATED [OMIM:603233]
synonym: "pseudohypoparathyroidism, type IB" RELATED [MONDO:Lexical, OMIM:603233]
xref: DOID:0080222 {source="MONDO:equivalentTo"}
xref: GARD:10680 {source="MONDO:GARD"}
xref: ICD10CM:E20.1 {source="Orphanet:94089/attributed", source="Orphanet:94089/ntbt", source="Orphanet:94089"}
xref: MEDGEN:350343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548075 {source="Orphanet:94089", source="MONDO:equivalentTo", source="Orphanet:94089/e"}
xref: NANDO:1201076 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:603233 {source="Orphanet:94089", source="DOID:0080222", source="MONDO:equivalentTo", source="Orphanet:94089/e"}
xref: Orphanet:94089 {source="OMIM:603233", source="MONDO:equivalentTo"}
xref: UMLS:C1864100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350343"}
is_a: MONDO:0019992 {source="DOID:0080222", source="MESH:C548075", source="MONDO:0018700-obsoleted", source="Orphanet:94089", source="Orphanet:94089/inferred"} ! pseudohypoparathyroidism
is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b" xsd:anyURI {source="GARD:0010680"}

[Term]
id: MONDO:0011302
name: type 1 diabetes mellitus 17
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25." [DOID:0110754, MONDO:patterns/inherited_susceptibility, PMID:9788970]
synonym: "diabetes mellitus, insulin-dependent, 17" RELATED [MONDO:Lexical, OMIM:603266]
synonym: "IDDM17" EXACT ABBREVIATION [DOID:0110754, MONDO:Lexical, OMIM:603266]
synonym: "insulin-dependent diabetes mellitus 17" EXACT [DOID:0110754, OMIM:603266]
xref: DOID:0110754 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110754"}
xref: MEDGEN:351036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566395 {source="MONDO:equivalentTo"}
xref: OMIM:603266 {source="DOID:0110754", source="MONDO:equivalentTo"}
xref: UMLS:C1864068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351036"}
is_a: MONDO:0020573 {source="OMIM:603266"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:603266", source="DOID:0110754", source="MESH:C566395", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:603266"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0011303
name: focal segmental glomerulosclerosis 1
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:93213"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTN4 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93213]
synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" RELATED [Orphanet:93213]
synonym: "focal segmental glomerulosclerosis 1" EXACT [MONDO:Lexical, OMIM:603278]
synonym: "focal segmental glomerulosclerosis caused by mutation in ACTN4" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 1" EXACT [DOID:0111128, MONDORULE:1, OMIM:603278]
synonym: "FSGS1" EXACT ABBREVIATION [DOID:0111128, MONDO:Lexical, OMIM:603278]
synonym: "glomerulosclerosis, focal segmental, 1" RELATED [OMIM:603278]
xref: DOID:0111128 {source="MONDO:equivalentTo"}
xref: GARD:15353 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="DOID:0111128", source="Orphanet:93213", source="Orphanet:93213/attributed", source="Orphanet:93213/ntbt"}
xref: MEDGEN:1636833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538457 {source="MONDO:equivalentTo"}
xref: OMIM:603278 {source="DOID:0111128", source="MONDO:equivalentTo", source="Orphanet:93213"}
xref: Orphanet:93213 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4551527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636833"}
is_a: MONDO:0005363 {source="DC-OMIM:603278", source="DOID:0111128", source="MESH:C538457", source="MONDO:Redundant", source="OMIM:603278"} ! inherited focal segmental glomerulosclerosis
is_a: MONDO:0019006 {source="Orphanet:93213"} ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/166 ! ACTN4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/166 {source="MONDO:mim2gene_medgen"} ! ACTN4

[Term]
id: MONDO:0011304
name: cerebral cavernous malformation 2
def: "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18313", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCM2" EXACT ABBREVIATION [DOID:0060670, MONDO:Lexical, OMIM:603284]
synonym: "CCM2 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cerebral cavernous malformation 2" EXACT CLINGEN_LABEL []
synonym: "cerebral cavernous malformation type 2" EXACT [DOID:0060670, MONDORULE:1]
synonym: "cerebral cavernous malformations 2" RELATED [MONDO:Lexical, OMIM:603284]
synonym: "cerebral cavernous malformations type 2" EXACT [MONDORULE:1, OMIM:603284]
synonym: "cerebral cavernous malformations-2" EXACT [OMIM:603284, OMIM:genemap2]
synonym: "familial cerebral cavernous malformation caused by mutation in CCM2" EXACT [MONDO:design_pattern]
xref: DOID:0060670 {source="MONDO:equivalentTo"}
xref: GARD:18313 {source="MONDO:GARD"}
xref: ICD10CM:Q28.3 {source="DOID:0060670"}
xref: MEDGEN:400438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566394 {source="MONDO:equivalentTo"}
xref: OMIM:603284 {source="DOID:0060670", source="MONDO:equivalentTo"}
xref: Orphanet:221061 {source="DOID:0060670", source="OMIM:603284"}
xref: UMLS:C1864041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400438"}
is_a: MONDO:0031037 {source="MONDO:Redundant", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations
intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21708 ! CCM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21708 {source="MONDO:mim2gene_medgen"} ! CCM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011305
name: cerebral cavernous malformation 3
def: "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18314", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCM3" EXACT ABBREVIATION [DOID:0060671, MONDO:Lexical, OMIM:603285]
synonym: "cerebral cavernous malformation 3" EXACT CLINGEN_LABEL []
synonym: "cerebral cavernous malformation type 3" EXACT [DOID:0060671, MONDORULE:1]
synonym: "cerebral cavernous malformations 3" EXACT [MONDO:Lexical, OMIM:603285]
synonym: "cerebral cavernous malformations type 3" EXACT [MONDORULE:1, OMIM:603285]
synonym: "cerebral cavernous malformations-3" EXACT [OMIM:603285, OMIM:genemap2]
synonym: "familial cerebral cavernous malformation caused by mutation in PDCD10" EXACT [MONDO:design_pattern]
synonym: "PDCD10 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060671 {source="MONDO:equivalentTo"}
xref: GARD:18314 {source="MONDO:GARD"}
xref: ICD10CM:Q28.3 {source="DOID:0060671"}
xref: MEDGEN:355121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566393 {source="MONDO:equivalentTo"}
xref: OMIM:603285 {source="MONDO:equivalentTo"}
xref: Orphanet:221061 {source="DOID:0060671", source="OMIM:603285"}
xref: UMLS:C1864040 {source="MEDGEN:355121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031037 {source="MONDO:Redundant", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations
intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8761 ! PDCD10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8761 {source="MONDO:mim2gene_medgen"} ! PDCD10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011306
name: muscular dystrophy, congenital, with cerebellar atrophy
synonym: "muscular dystrophy, congenital, with cerebellar atrophy" EXACT [OMIM:603323]
xref: MEDGEN:351027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566392 {source="MONDO:equivalentTo"}
xref: OMIM:603323 {source="MONDO:equivalentTo"}
xref: UMLS:C1864028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351027"}
is_a: MONDO:0003847 {source="MESH:C566392/inferred"} ! hereditary disease

[Term]
id: MONDO:0011307
name: schizophrenia 2
def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21." [DOID:0070078]
synonym: "schizophrenia 2" EXACT [MONDO:Lexical, OMIM:603342]
synonym: "schizophrenia susceptibility locus, chromosome 11Q-related" RELATED [OMIM:603342]
synonym: "SCZD2" EXACT ABBREVIATION [DOID:0070078, MONDO:Lexical, OMIM:603342]
xref: DOID:0070078 {source="MONDO:equivalentTo"}
xref: MEDGEN:350323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603342 {source="DOID:0070078", source="MONDO:equivalentTo"}
xref: UMLS:C1864010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350323"}
is_a: MONDO:0005090 {source="DC-OMIM:603342", source="DOID:0070078"} ! schizophrenia

[Term]
id: MONDO:0011308
name: GRACILE syndrome
def: "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." [Orphanet:53693]
subset: gard_rare {source="GARD:1", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53693"}
subset: orphanet_rare {source="Orphanet:53693"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fellman disease" EXACT [Orphanet:53693]
synonym: "Fellman syndrome" RELATED [GARD:0000001, OMIM:603358]
synonym: "Finnish lactic acidosis with hepatic hemosiderosis" RELATED [GARD:0000001]
synonym: "Finnish lethal neonatal metabolic syndrome" RELATED [GARD:0000001, OMIM:603358]
synonym: "FLNMS" RELATED ABBREVIATION [GARD:0000001]
synonym: "gracile syndrome" EXACT [OMIM:603358]
synonym: "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [Orphanet:53693]
synonym: "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [Orphanet:53693]
synonym: "Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" RELATED [OMIM:603358]
synonym: "Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death" RELATED [GARD:0000001]
synonym: "lactic acidosis, Finnish, with hepatic hemosiderosis" RELATED [OMIM:603358]
xref: DOID:0111455 {source="MONDO:equivalentTo"}
xref: GARD:1 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:53693/attributed", source="Orphanet:53693/ntbt", source="Orphanet:53693"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:400428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537934 {source="Orphanet:53693/e", source="MONDO:equivalentTo", source="Orphanet:53693"}
xref: OMIM:603358 {source="GARD:0000001", source="Orphanet:53693/e", source="MONDO:equivalentTo", source="Orphanet:53693"}
xref: Orphanet:53693 {source="GARD:0000001", source="OMIM:603358", source="MONDO:equivalentTo"}
xref: SCTID:703388005 {source="MONDO:equivalentTo"}
xref: UMLS:C1864002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400428"}
is_a: MONDO:0044970 {source="Orphanet:53693"} ! mitochondrial disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 {source="MONDO:mim2gene_medgen"} ! BCS1L

[Term]
id: MONDO:0011309
name: familial gestational hyperthyroidism
subset: gard_rare {source="GARD:16913", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99819"}
subset: orphanet_rare {source="Orphanet:99819"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperthyroidism, familial gestational" RELATED [OMIM:603373]
xref: DOID:0081102 {source="MONDO:equivalentTo"}
xref: GARD:16913 {source="MONDO:GARD"}
xref: ICD10CM:E05.8 {source="Orphanet:99819/attributed", source="Orphanet:99819/ntbt", source="Orphanet:99819"}
xref: ICD9:242.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:648.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:355106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566384 {source="Orphanet:99819/e", source="MONDO:equivalentTo", source="Orphanet:99819"}
xref: OMIM:603373 {source="Orphanet:99819/e", source="MONDO:equivalentTo", source="Orphanet:99819"}
xref: Orphanet:99819 {source="MONDO:equivalentTo", source="OMIM:603373"}
xref: SCTID:703309000 {source="MONDO:equivalentTo"}
xref: UMLS:C1863959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355106"}
is_a: MONDO:0004425 {source="Orphanet:99819"} ! hyperthyroidism
is_a: MONDO:0024575 {source="Orphanet:99819"} ! pregnancy disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582", source="MONDO:0015894"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12373 {source="MONDO:mim2gene_medgen"} ! TSHR

[Term]
id: MONDO:0011310
name: long chain fatty acids, defect in transport of
synonym: "long chain fatty acids, defect in TRANSPORT OF" RELATED [OMIM:603376]
xref: MEDGEN:350307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603376 {source="MONDO:equivalentTo"}
xref: UMLS:C1863958 {source="MEDGEN:350307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011311
name: obsolete glaucoma 1, open angle, F
subset: clingen {source="MONDO:CLINGEN"}
synonym: "glaucoma 1, open angle, F" EXACT [MONDO:Lexical, OMIM:603383]
synonym: "glaucoma 1, open angle, type F" EXACT [MONDORULE:1, OMIM:603383]
synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:603383]
synonym: "GLC1F" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603383]
xref: MESH:C566383 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:603383 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011312
name: thyroid carcinoma, nonmedullary, with or without cell oxyphilia
subset: gard_rare {source="GARD:15354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "nonmedullary thyroid carcinoma, with or without cell oxyphilia" RELATED [GARD:0008488]
synonym: "TCO" RELATED ABBREVIATION [OMIM:603386]
synonym: "TCO 1" RELATED [GARD:0008488]
synonym: "TCO1" RELATED ABBREVIATION [OMIM:603386]
synonym: "thyroid carcinoma, nonmedullary, with cell oxyphilia" EXACT [OMIM:603386, OMIM:genemap2]
synonym: "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" EXACT [OMIM:603386]
xref: GARD:15354 {source="MONDO:GARD"}
xref: MEDGEN:400409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537842 {source="MONDO:equivalentTo"}
xref: OMIM:603386 {source="MONDO:equivalentTo"}
xref: Orphanet:319487 {source="OMIM:603386"}
xref: UMLS:C1863925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400409"}
is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8488/nonmedullary-thyroid-carcinoma-with-or-without-cell-oxyphilia" xsd:anyURI {source="GARD:0008488"}

[Term]
id: MONDO:0011313
name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Meg-PMG-Megacc syndrome" RELATED [OMIM:603387]
synonym: "megalencephaly, mega corpus callosum, and complete lack of motor development" RELATED [OMIM:603387]
synonym: "megalencephaly, polymicrogyria, mega corpus callosum syndrome" RELATED [OMIM:603387]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" EXACT [MONDO:Lexical, OMIM:603387]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1" EXACT [MONDORULE:1, OMIM:603387]
synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2" EXACT [MONDO:design_pattern]
synonym: "MPPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603387]
synonym: "PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18077 {source="MONDO:GARD"}
xref: MEDGEN:861164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566381 {source="MONDO:equivalentTo"}
xref: OMIM:603387 {source="MONDO:equivalentTo"}
xref: Orphanet:83473 {source="OMIM:603387"}
xref: UMLS:C4012727 {source="MEDGEN:861164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019375 {source="DC-OMIM:603387", source="MONDO:Redundant", source="OMIM:603387"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
is_a: MONDO:1040004 {source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3R2-related overgrowth spectrum
intersection_of: MONDO:0019375 ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8980 ! PIK3R2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql {source="https://orcid.org/0000-0002-0587-4693"}
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8980 {source="MONDO:mim2gene_medgen"} ! PIK3R2

[Term]
id: MONDO:0011314
name: Graves disease, susceptibility to, 2
subset: predisposition
synonym: "Graves disease, susceptibility to, 2" EXACT [OMIM:603388]
synonym: "Graves disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:603388]
synonym: "Grd2" RELATED [OMIM:603388]
xref: MEDGEN:350301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603388 {source="MONDO:equivalentTo"}
xref: UMLS:C1863923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350301"}
is_a: MONDO:0020573 {source="OMIM:603388", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005364 {source="OMIM:603388", source="https://orcid.org/0000-0001-5208-3432"} ! Graves disease
relationship: predisposes_towards MONDO:0005364 {source="OMIM:603388"} ! Graves disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011315
name: Osebold skeletal dysplasia/osteolysis syndrome
synonym: "Osebold skeletal dysplasia/osteolysis syndrome" EXACT [OMIM:603389]
xref: MEDGEN:350300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566380 {source="MONDO:equivalentTo"}
xref: OMIM:603389 {source="MONDO:equivalentTo"}
xref: UMLS:C1863922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350300"}
is_a: MONDO:0003847 {source="MESH:C566380/inferred"} ! hereditary disease

[Term]
id: MONDO:0011316
name: osteosclerotic chondrodysplasia, lethal, with intracellular inclusions
synonym: "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" EXACT [OMIM:603393]
xref: MEDGEN:350298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566378 {source="MONDO:equivalentTo"}
xref: OMIM:603393 {source="MONDO:equivalentTo"}
xref: UMLS:C1863920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350298"}
is_a: MONDO:0003847 {source="MESH:C566378/inferred"} ! hereditary disease

[Term]
id: MONDO:0011317
name: microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects
synonym: "microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects" EXACT [OMIM:603394]
xref: MEDGEN:400408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566377 {source="MONDO:equivalentTo"}
xref: OMIM:603394 {source="MONDO:equivalentTo"}
xref: UMLS:C1863919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400408"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011318
name: Tonoki syndrome
synonym: "short stature, brachydactyly, nail dysplasia and intellectual disability" RELATED [GARD:0010219]
synonym: "short stature, brachydactyly, nail dysplasia and mental retardation" RELATED DEPRECATED [GARD:0010219]
synonym: "Tonoki syndrome" EXACT [OMIM:603396]
xref: MEDGEN:355094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536967 {source="MONDO:equivalentTo"}
xref: OMIM:603396 {source="MONDO:equivalentTo"}
xref: UMLS:C1863918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355094"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10219/tonoki-syndrome" xsd:anyURI {source="GARD:0010219"}

[Term]
id: MONDO:0011319
name: obsolete activator of liver function 1
comment: Reason: out of scope. Term to consider: none
synonym: "activator of liver function 1" EXACT [MONDO:Lexical, OMIM:603416]
synonym: "activator of liver function type 1" EXACT [MONDORULE:1, OMIM:603416]
synonym: "ALFN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603416]
synonym: "Half1" RELATED [OMIM:603416]
synonym: "ribosomal PROTEIN L21 pseudogene 1" RELATED [OMIM:603416]
synonym: "ribosomal Protein L21 pseudogene 1" RELATED [OMIM:603416]
synonym: "RPL21P1" RELATED ABBREVIATION [OMIM:603416]
xref: OMIM:603416 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4503" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011320
name: radioulnar synostosis-microcephaly-scoliosis syndrome
def: "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." [https://orcid.org/0000-0001-5208-3432, Orphanet:3268]
subset: gard_rare {source="GARD:394", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3268"}
subset: ordo_malformation_syndrome {source="Orphanet:3268"}
subset: orphanet_rare {source="Orphanet:3268"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Giuffre-Tsukahara syndrome" EXACT [OMIM:603438, Orphanet:3268]
synonym: "Giuffré-Tsukahara syndrome" EXACT [Orphanet:3268]
synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability" RELATED [OMIM:603438]
synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation" RELATED DEPRECATED [OMIM:603438]
synonym: "Tsukahara syndrome" EXACT [Orphanet:3268]
synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability" RELATED [GARD:0000394]
synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation" RELATED DEPRECATED [GARD:0000394]
xref: GARD:394 {source="MONDO:GARD"}
xref: MEDGEN:400399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603438 {source="Orphanet:3268", source="MONDO:equivalentTo", source="Orphanet:3268/e"}
xref: Orphanet:3268 {source="MONDO:equivalentTo", source="OMIM:603438"}
xref: UMLS:C1863881 {source="MEDGEN:400399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0011321
name: expansile bone lesions
synonym: "expansile bone lesions" EXACT [OMIM:603439]
xref: MEDGEN:350991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566375 {source="MONDO:equivalentTo"}
xref: OMIM:603439 {source="MONDO:equivalentTo"}
xref: UMLS:C1863880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350991"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011322
name: Oroacral syndrome, Verloes-Koulischer type
synonym: "Oroacral syndrome, Verloes-Koulischer type" EXACT [OMIM:603446]
xref: MEDGEN:400398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566374 {source="MONDO:equivalentTo"}
xref: OMIM:603446 {source="MONDO:equivalentTo"}
xref: UMLS:C1863879 {source="MEDGEN:400398", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011323
name: arhinia, choanal atresia, and microphthalmia
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "arhinia, choanal atresia, and microphthalmia" EXACT [OMIM:603457]
synonym: "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" RELATED [OMIM:603457]
synonym: "BAMS" RELATED ABBREVIATION [OMIM:603457]
synonym: "BOSMA arhinia microphthalmia syndrome" RELATED [OMIM:603457]
synonym: "Bosma arhinia microphthalmia syndrome" RELATED [OMIM:603457]
xref: MEDGEN:355084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537429 {source="MONDO:equivalentTo"}
xref: OMIM:603457 {source="MONDO:equivalentTo"}
xref: Orphanet:1135 {source="MONDO:relatedTo", source="OMIM:603457"}
xref: Orphanet:2250 {source="OMIM:603457"}
xref: SCTID:720511000 {source="MONDO:equivalentTo"}
xref: UMLS:C1863878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355084"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 {source="MONDO:mim2gene_medgen"} ! SMCHD1

[Term]
id: MONDO:0011324
name: obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss
comment: OMIM merged these
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1699" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008885

[Term]
id: MONDO:0011325
name: Fanconi anemia complementation group F
def: "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM." [NCIT:C125707]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FANCF" EXACT ABBREVIATION [DOID:0111088, MONDO:Lexical, OMIM:603467]
synonym: "Fanconi anaemia complementation group type F" EXACT OMO:0003005 []
synonym: "Fanconi anemia complementation group F" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type F" EXACT [DOID:0111088, MONDORULE:1]
synonym: "Fanconi anemia, complementation group F" RELATED [MONDO:Lexical, OMIM:603467]
synonym: "Fanconi Anemia, complementation group type F" EXACT [MONDORULE:1, OMIM:603467]
xref: DOID:0111088 {source="MONDO:equivalentTo"}
xref: GARD:15355 {source="MONDO:GARD"}
xref: MEDGEN:854016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125707 {source="MONDO:equivalentTo"}
xref: OMIM:603467 {source="MONDO:equivalentTo", source="DOID:0111088"}
xref: UMLS:C3469526 {source="MEDGEN:854016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:603467", source="DOID:0111088", source="EFO:0009045", source="NCIT:C125707", source="OMIM:603467"} ! Fanconi anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3587 {source="MONDO:mim2gene_medgen"} ! FANCF

[Term]
id: MONDO:0011326
name: citrullinemia, type II, adult-onset
def: "Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern." [GARD:0010215]
comment: TODO - merge into parent
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult-onset citrullinemia type 2" RELATED [GARD:0010215]
synonym: "adult-onset citrullinemia type II" RELATED [GARD:0010215]
synonym: "citrin deficiency" RELATED [GARD:0010215, OMIM:603471]
synonym: "citrullinemia type 2" RELATED [GARD:0010215]
synonym: "citrullinemia type II" RELATED [GARD:0010215]
synonym: "citrullinemia, adult-onset type II" EXACT [OMIM:603471, OMIM:genemap2]
synonym: "citrullinemia, type II, ADULT-onset" RELATED [OMIM:603471]
synonym: "citrullinemia, type II, adult-onset" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:603471]
synonym: "CTLN2" RELATED ABBREVIATION [GARD:0010215, MONDO:Lexical, OMIM:603471]
xref: DOID:0070342 {source="MONDO:equivalentTo"}
xref: NANDO:1200980 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:603471 {source="MONDO:equivalentTo", source="GARD:0010215"}
xref: Orphanet:247585 {source="GARD:0010215", source="OMIM:603471"}
is_a: MONDO:0016603 ! citrullinemia type II
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10983 {source="MONDO:mim2gene_medgen"} ! SLC25A13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii" xsd:anyURI {source="GARD:0010215"}

[Term]
id: MONDO:0011327
name: neuronal intranuclear inclusion disease
def: "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." [Orphanet:2289]
subset: gard_rare {source="GARD:3971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2289"}
subset: orphanet_rare {source="Orphanet:2289"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuronal intranuclear hyaline inclusion disease" RELATED [GARD:0003971]
synonym: "neuronal intranuclear inclusion disease" EXACT [OMIM:603472]
synonym: "Niid" RELATED [OMIM:603472]
xref: DOID:0081294 {source="MONDO:equivalentTo"}
xref: GARD:3971 {source="MONDO:GARD"}
xref: ICD10CM:G31.0 {source="Orphanet:2289", source="Orphanet:2289/attributed", source="Orphanet:2289/ntbt"}
xref: MEDGEN:355075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537395 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"}
xref: NCIT:C122655 {source="MONDO:equivalentTo"}
xref: OMIM:603472 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"}
xref: Orphanet:2289 {source="MONDO:equivalentTo", source="OMIM:603472"}
xref: SCTID:715437003 {source="MONDO:equivalentTo"}
xref: UMLS:C1863843 {source="MEDGEN:355075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0015547 ! hereditary dementia
is_a: MONDO:0024237 {source="Orphanet:2289"} ! inherited neurodegenerative disorder
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease" xsd:anyURI {source="GARD:0003971"}

[Term]
id: MONDO:0011328
name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1E
is_obsolete: true
replaced_by: MONDO:0018098

[Term]
id: MONDO:0011329
name: obsolete cerebral palsy, spastic quadriplegic, 1
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3807" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0033613

[Term]
id: MONDO:0011330
name: spinocerebellar ataxia type 10
def: "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." [Orphanet:98761]
subset: gard_rare {source="GARD:10474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98761"}
subset: orphanet_rare {source="Orphanet:98761"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603516, Orphanet:98761]
synonym: "spinocerebellar ataxia 10" RELATED [MONDO:Lexical, OMIM:603516]
synonym: "spinocerebellar ataxia type 10" EXACT [MONDORULE:2, OMIM:603516]
xref: DOID:0050960 {source="MONDO:equivalentTo"}
xref: GARD:10474 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98761/attributed", source="Orphanet:98761/ntbt", source="Orphanet:98761"}
xref: MEDGEN:369786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566874 {source="MONDO:equivalentTo"}
xref: OMIM:603516 {source="DOID:0050960", source="Orphanet:98761/e", source="MONDO:equivalentTo", source="Orphanet:98761"}
xref: Orphanet:98761 {source="MONDO:equivalentTo", source="OMIM:603516"}
xref: SCTID:715754007 {source="MONDO:equivalentTo"}
xref: UMLS:C1963674 {source="MEDGEN:369786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019794 {source="Orphanet:98761"} ! autosomal dominant cerebellar ataxia type IV
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10549 {source="MONDO:mim2gene_medgen"} ! ATXN10

[Term]
id: MONDO:0011331
name: congenital chylothorax
def: "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations." [Orphanet:264688]
subset: gard_rare {source="GARD:10156", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:264688"}
subset: orphanet_rare {source="Orphanet:264688"}
subset: rare
synonym: "chylothorax, congenital" RELATED [OMIM:603523]
synonym: "hydrothorax, congenital" RELATED [OMIM:603523]
xref: DOID:0060646 {source="MONDO:equivalentTo"}
xref: GARD:10156 {source="MONDO:GARD"}
xref: ICD10CM:I89.8 {source="Orphanet:264688", source="Orphanet:264688/ntbt"}
xref: ICD9:511.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535461 {source="MONDO:equivalentTo"}
xref: OMIM:603523 {source="MONDO:equivalentTo", source="DOID:0060646", source="Orphanet:264688", source="Orphanet:264688/e"}
xref: Orphanet:264688 {source="OMIM:603523", source="MONDO:equivalentTo", source="DOID:0060646"}
xref: SCTID:233646003 {source="MONDO:equivalentTo"}
xref: UMLS:C0340014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87398"}
is_a: MONDO:0002037 {source="DOID:0060646", source="MESH:C535461/inferred"} ! pleural disorder
is_a: MONDO:0017015 {source="Orphanet:264688"} ! primary interstitial lung disease specific to childhood
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10156/chylothorax-congenital" xsd:anyURI {source="GARD:0010156"}

[Term]
id: MONDO:0011332
name: Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin
synonym: "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin" EXACT [OMIM:603529]
xref: MEDGEN:813565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603529 {source="MONDO:equivalentTo"}
xref: UMLS:C3807235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813565"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011333
name: obsolete light fixation seizure syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6289" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014165

[Term]
id: MONDO:0011334
name: limb-mammary syndrome
def: "Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias." [Orphanet:69085]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:10051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69085"}
subset: ordo_malformation_syndrome {source="Orphanet:69085"}
subset: orphanet_rare {source="Orphanet:69085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "limb-mammary syndrome" EXACT [MONDO:Lexical, OMIM:603543]
synonym: "LMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603543, Orphanet:69085]
synonym: "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" RELATED [GARD:0010051]
xref: GARD:10051 {source="MONDO:GARD"}
xref: MEDGEN:355051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535903 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"}
xref: OMIM:603543 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"}
xref: Orphanet:69085 {source="OMIM:603543", source="MONDO:equivalentTo"}
xref: SCTID:721972001 {source="MONDO:equivalentTo"}
xref: UMLS:C1863753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355051"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019287 {source="https://orcid.org/0000-0002-5002-8648"} ! ectodermal dysplasia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0011335
name: spondyloepimetaphyseal dysplasia with multiple dislocations
def: "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity." [NCIT:C125419]
subset: gard_rare {source="GARD:9866", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93360"}
subset: orphanet_rare {source="Orphanet:93360"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMD-MD" EXACT [DOID:0112199, Orphanet:93360]
synonym: "SEMDJL2" EXACT ABBREVIATION [DOID:0112199, MONDO:Lexical, OMIM:603546, Orphanet:93360]
synonym: "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT [DOID:0112199, Orphanet:93360]
synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity type 2" RELATED [MONDO:Lexical, OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 2" EXACT [DOID:0112199, Orphanet:93360]
synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, Hall type" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT [DOID:0112199, Orphanet:93360]
synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 2" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, type 2" RELATED [OMIM:603546]
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type" RELATED [GARD:0009866]
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type" RELATED [GARD:0009866]
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [DOID:0112199, OMIM:603546, Orphanet:93360]
xref: DOID:0112199 {source="MONDO:equivalentTo"}
xref: GARD:9866 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93360/attributed", source="Orphanet:93360/ntbt", source="Orphanet:93360"}
xref: MEDGEN:350960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535784 {source="Orphanet:93360/e", source="MONDO:equivalentTo", source="Orphanet:93360"}
xref: NCIT:C125419 {source="MONDO:equivalentTo"}
xref: OMIM:603546 {source="Orphanet:93360/e", source="MONDO:equivalentTo", source="DOID:0112199", source="Orphanet:93360"}
xref: Orphanet:93360 {source="OMIM:603546", source="MONDO:equivalentTo", source="DOID:0112199"}
xref: SCTID:766820007 {source="MONDO:equivalentTo"}
xref: UMLS:C1863732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350960"}
is_a: MONDO:0000426 {source="DOID:0112199"} ! autosomal dominant disease
is_a: MONDO:0019675 {source="DC-OMIM:603546"} ! spondyloepimetaphyseal dysplasia with joint laxity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6391 {source="MONDO:mim2gene_medgen"} ! KIF22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations" xsd:anyURI {source="GARD:0009866"}

[Term]
id: MONDO:0011336
name: familial hemophagocytic lymphohistiocytosis 4
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9929", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial hemophagocytic lymphohistiocytosis 4" EXACT CLINGEN_LABEL []
synonym: "familial hemophagocytic lymphohistiocytosis type 4" EXACT [DOID:0110924, MONDORULE:1]
synonym: "FHL4" EXACT ABBREVIATION [DOID:0110924, MONDO:Lexical, OMIM:603552]
synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11" EXACT [MONDO:design_pattern]
synonym: "hemophagocytic lymphohistiocytosis, familial, 4" RELATED [MONDO:Lexical, OMIM:603552]
synonym: "hemophagocytic lymphohistiocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:603552]
synonym: "HLH4" EXACT ABBREVIATION [DOID:0110924]
synonym: "Hlh4" RELATED [OMIM:603552]
synonym: "HPLH4" EXACT ABBREVIATION [DOID:0110924]
synonym: "Hplh4" RELATED [OMIM:603552]
synonym: "STX11 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110924 {source="MONDO:equivalentTo"}
xref: GARD:9929 {source="MONDO:GARD"}
xref: MEDGEN:350245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537252 {source="MONDO:equivalentTo"}
xref: NANDO:2200730 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:603552 {source="MONDO:equivalentTo", source="DOID:0110924"}
xref: Orphanet:540 {source="OMIM:603552", source="MONDO:directSiblingOf"}
xref: UMLS:C1863728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350245"}
is_a: MONDO:0015541 {source="MONDO:Redundant", source="OMIM:603552", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary hemophagocytic lymphohistiocytosis
intersection_of: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11429 ! STX11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11429 {source="MONDO:mim2gene_medgen"} ! STX11
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4" xsd:anyURI {source="GARD:0009929"}

[Term]
id: MONDO:0011337
name: familial hemophagocytic lymphohistiocytosis 2
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial hemophagocytic lymphohistiocytosis type 2" EXACT [DOID:0110922, MONDORULE:1]
synonym: "FHL2" EXACT ABBREVIATION [DOID:0110922, MONDO:Lexical, OMIM:603553]
synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1" EXACT [MONDO:design_pattern]
synonym: "hemophagocytic lymphohistiocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:603553]
synonym: "hemophagocytic lymphohistiocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:603553]
synonym: "HLH2" EXACT ABBREVIATION [DOID:0110922]
synonym: "Hlh2" RELATED [OMIM:603553]
synonym: "HPLH2" EXACT ABBREVIATION [DOID:0110922]
synonym: "Hplh2" RELATED [OMIM:603553]
synonym: "PRF1 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110922 {source="MONDO:equivalentTo"}
xref: GARD:9922 {source="MONDO:GARD"}
xref: MEDGEN:400366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537250 {source="MONDO:equivalentTo"}
xref: NANDO:2200728 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:603553 {source="DOID:0110922", source="MONDO:equivalentTo"}
xref: Orphanet:540 {source="OMIM:603553", source="MONDO:directSiblingOf"}
xref: UMLS:C1863727 {source="MEDGEN:400366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015541 {source="MONDO:Redundant", source="OMIM:603553", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary hemophagocytic lymphohistiocytosis
intersection_of: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9360 ! PRF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9360 {source="MONDO:mim2gene_medgen"} ! PRF1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9922/hemophagocytic-lymphohistiocytosis-familial-2" xsd:anyURI {source="GARD:0009922"}

[Term]
id: MONDO:0011338
name: Omenn syndrome
def: "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." [Orphanet:39041]
subset: gard_rare {source="GARD:8198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:39041"}
subset: orphanet_rare {source="Orphanet:39041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined immunodeficiency with hypereosinophilia" EXACT [DOID:0060010, Orphanet:39041]
synonym: "Omenn syndrome" EXACT CLINGEN_LABEL [OMIM:603554]
synonym: "reticuloendotheliosis familial with eosinophilia" RELATED [GARD:0008198]
synonym: "reticuloendotheliosis, familial, with eosinophilia" RELATED [OMIM:603554]
synonym: "severe combined immunodeficiency with hypereosinophilia" RELATED [OMIM:603554]
xref: DOID:0060010 {source="MONDO:equivalentTo"}
xref: GARD:8198 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="DOID:0060010", source="Orphanet:39041", source="Orphanet:39041/attributed", source="Orphanet:39041/ntbt"}
xref: MedDRA:10069097 {source="Orphanet:39041", source="Orphanet:39041/e"}
xref: MEDGEN:398130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200324 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200697 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61240 {source="MONDO:equivalentTo"}
xref: OMIM:603554 {source="DOID:0060010", source="Orphanet:39041", source="MONDO:equivalentTo", source="Orphanet:39041/e"}
xref: Orphanet:39041 {source="OMIM:603554", source="MONDO:equivalentTo"}
xref: SCTID:722067005 {source="MONDO:equivalentTo"}
xref: UMLS:C2700553 {source="MEDGEN:398130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015974 {source="DOID:0060010", source="MONDO:Redundant", source="NCIT:C61240"} ! severe combined immunodeficiency
is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0031520 {source="OMIM:603554"} ! familial severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:39041", source="https://github.com/monarch-initiative/mondo-build/issues/108", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome" xsd:anyURI {source="GARD:0008198"}

[Term]
id: MONDO:0011339
name: hereditary spastic paraplegia 8
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100989"}
subset: orphanet_rare {source="Orphanet:100989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 8" EXACT [DOID:0110823]
synonym: "autosomal dominant spastic paraplegia type 8" EXACT [DOID:0110823]
synonym: "hereditary spastic paraplegia caused by mutation in WASHC5" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 8" EXACT [DOID:0110823, MONDORULE:1]
synonym: "spastic paraplegia 8" RELATED [GARD:0009591]
synonym: "spastic paraplegia 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:603563]
synonym: "SPG8" EXACT ABBREVIATION [DOID:0110823, MONDO:Lexical, OMIM:603563, Orphanet:100989]
synonym: "WASHC5 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110823 {source="MONDO:equivalentTo"}
xref: GARD:9591 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110823", source="Orphanet:100989", source="Orphanet:100989/attributed", source="Orphanet:100989/ntbt"}
xref: MEDGEN:400359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536867 {source="Orphanet:100989/e", source="Orphanet:100989"}
xref: MESH:C580458 {source="MONDO:equivalentTo"}
xref: OMIM:603563 {source="Orphanet:100989/e", source="DOID:0110823", source="MONDO:equivalentTo", source="Orphanet:100989"}
xref: Orphanet:100989 {source="OMIM:603563", source="DOID:0110823", source="MONDO:equivalentTo"}
xref: UMLS:C1863704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400359"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110823", source="MESH:C580458", source="MONDO:Redundant", source="OMIM:603563", source="Orphanet:100989/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28984 ! WASHC5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28984 {source="MONDO:mim2gene_medgen"} ! WASHC5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0011340
name: congenital tracheal stenosis
subset: gard_rare {source="GARD:12008", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141127"}
subset: ordo_morphological_anomaly {source="Orphanet:141127"}
subset: orphanet_rare {source="Orphanet:141127"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tracheobronchial stenosis, congenital" RELATED [OMIM:603569]
xref: GARD:12008 {source="MONDO:GARD"}
xref: ICD10CM:Q32.1 {source="Orphanet:141127/inclusion", source="Orphanet:141127/ntbt", source="Orphanet:141127"}
xref: icd11.foundation:2095672409 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:141127"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566362 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/1839"}
xref: NANDO:1201003 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:603569 {source="Orphanet:141127/e", source="MONDO:equivalentTo", source="Orphanet:141127"}
xref: Orphanet:141127 {source="MONDO:equivalentTo", source="OMIM:603569"}
xref: SCTID:9660004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120556"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis" xsd:anyURI {source="GARD:0012008"}

[Term]
id: MONDO:0011341
name: microcephaly, facial abnormalities, micromelia, and intellectual disability
synonym: "microcephaly, facial abnormalities, micromelia, and intellectual disability" EXACT [OMIM:603572]
synonym: "microcephaly, facial abnormalities, micromelia, and mental retardation" EXACT DEPRECATED [OMIM:603572]
xref: MEDGEN:350957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566361 {source="MONDO:equivalentTo"}
xref: OMIM:603572 {source="MONDO:equivalentTo"}
xref: UMLS:C1863702 {source="MEDGEN:350957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011342
name: SLC35A1-congenital disorder of glycosylation
def: "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." [Orphanet:238459]
subset: gard_rare {source="GARD:12409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238459"}
subset: orphanet_rare {source="Orphanet:238459"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT [Orphanet:238459]
synonym: "CDG IIf" RELATED [OMIM:603585]
synonym: "CDG syndrome type IIf" EXACT [Orphanet:238459]
synonym: "CDG-IIf" EXACT [Orphanet:238459]
synonym: "CDG2F" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603585, Orphanet:238459]
synonym: "CMP-sialic acid transporter deficiency" EXACT [Orphanet:238459]
synonym: "congenital disorder of glycosylation type 2f" EXACT [Orphanet:238459]
synonym: "congenital disorder of glycosylation type IIf" EXACT [Orphanet:238459]
synonym: "congenital disorder of glycosylation, type IIf" RELATED [MONDO:Lexical, OMIM:603585]
synonym: "SLC35A1-CDG" EXACT ABBREVIATION [Orphanet:356961]
synonym: "SLC35A1-CDG (CDG-IIf)" RELATED [GARD:0012409]
synonym: "SLC35A1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0070258 {source="MONDO:equivalentTo"}
xref: GARD:12409 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:238459", source="Orphanet:238459/attributed", source="Orphanet:238459/ntbt"}
xref: MEDGEN:370234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567040 {source="MONDO:equivalentTo"}
xref: OMIM:603585 {source="Orphanet:238459", source="MONDO:equivalentTo", source="Orphanet:238459/e"}
xref: Orphanet:238459 {source="OMIM:603585", source="MONDO:equivalentTo"}
xref: SCTID:723624008 {source="MONDO:equivalentTo"}
xref: UMLS:C1970344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370234"}
is_a: MONDO:0005501 {source="DC-OMIM:603585", source="OMIM:603585"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0017749 {source="Orphanet:238459"} ! disorder of multiple glycosylation
relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11021 {source="MONDO:mim2gene_medgen"} ! SLC35A1

[Term]
id: MONDO:0011343
name: follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts
synonym: "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts" EXACT [OMIM:603587]
xref: MEDGEN:350955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566360 {source="MONDO:equivalentTo"}
xref: OMIM:603587 {source="MONDO:equivalentTo"}
xref: UMLS:C1863692 {source="MEDGEN:350955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566360/inferred"} ! hereditary disease

[Term]
id: MONDO:0011344
name: parotitis, juvenile recurrent
synonym: "parotitis, juvenile recurrent" EXACT [OMIM:603588]
xref: MEDGEN:350954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566359 {source="MONDO:equivalentTo"}
xref: OMIM:603588 {source="MONDO:equivalentTo"}
xref: UMLS:C1863691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350954"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011345
name: facial dysmorphism, selective tooth agenesis, and choroid calcification
synonym: "facial dysmorphism, selective tooth agenesis, and choroid calcification" EXACT [OMIM:603589]
xref: MEDGEN:370233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567039 {source="MONDO:equivalentTo"}
xref: OMIM:603589 {source="MONDO:equivalentTo"}
xref: UMLS:C1970343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370233"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011346
name: xanthinuria type II
def: "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." [Orphanet:93602]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93602"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93602"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "type 2 xanthinuria" RELATED [GARD:0005620]
synonym: "type II xanthinuria" RELATED [GARD:0005620]
synonym: "XAN2" EXACT ABBREVIATION [MESH:C566358]
synonym: "xanthine dehydrogenase and aldehyde oxidase combined deficiency of" RELATED [GARD:0005620]
synonym: "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of" EXACT [MESH:C566358, OMIM:603592]
synonym: "xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency" EXACT [Orphanet:93602]
synonym: "xanthinuria type 2" RELATED [GARD:0005620]
synonym: "xanthinuria, type 2" RELATED [OMIM:603592]
synonym: "xanthinuria, type II" RELATED [OMIM:603592]
synonym: "XDH and AOX dual deficiency" EXACT [Orphanet:93602]
xref: DOID:0070453 {source="MONDO:equivalentTo"}
xref: GARD:5620 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:93602/attributed", source="Orphanet:93602/ntbt", source="Orphanet:93602"}
xref: MEDGEN:350953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566358 {source="MONDO:equivalentTo"}
xref: OMIM:603592 {source="Orphanet:93602/e", source="MONDO:equivalentTo", source="Orphanet:93602"}
xref: Orphanet:3467 {source="OMIM:603592"}
xref: Orphanet:93602 {source="MONDO:equivalentTo", source="OMIM:603592"}
xref: UMLS:C1863688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350953"}
is_a: MONDO:0018106 {source="MONDO:Redundant", source="OMIM:603592", source="Orphanet:93602"} ! hereditary xanthinuria
is_a: MONDO:0019254 {source="MESH:C566358", source="MONDO:Redundant", source="Orphanet:93602/inferred"} ! inborn disorder of purine or pyrimidine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18234 {source="MONDO:mim2gene_medgen"} ! MOCOS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2" xsd:anyURI {source="GARD:0005620"}

[Term]
id: MONDO:0011347
name: craniosynostosis with ectopia lentis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "craniosynostosis with ectopia lentis" EXACT [OMIM:603595]
xref: MEDGEN:350949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566357 {source="MONDO:equivalentTo"}
xref: OMIM:603595 {source="MONDO:equivalentTo"}
xref: UMLS:C1863678 {source="MEDGEN:350949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MESH:C566357"} ! craniosynostosis

[Term]
id: MONDO:0011348
name: non-syndromic polydactyly
def: "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits." [MESH:D017689]
comment: Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:2913"}
synonym: "Extra digits" RELATED [GARD:0004410]
synonym: "isolated polydactyly" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "isolated polydactyly (disease)" EXACT []
synonym: "nonsyndromic polydactyly" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic polydactyly (disease)" EXACT [MONDO:patterns/isolated]
synonym: "polydactylia" RELATED [GARD:0004410]
synonym: "supernumerary digits" RELATED [GARD:0004410]
xref: ICD10CM:Q69.0 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"}
xref: ICD10CM:Q69.1 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"}
xref: ICD10CM:Q69.2 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"}
xref: ICD10CM:Q69.9 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"}
xref: icd11.foundation:1534380955 {source="MONDO:equivalentTo", source="Orphanet:2913", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10036063 {source="Orphanet:2913/e"}
xref: MESH:D017689 {source="Orphanet:2913/e"}
xref: Orphanet:2913 {source="OMIM:603596", source="MONDO:equivalentTo"}
is_a: MONDO:0021003 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! polydactyly
intersection_of: MONDO:0021003 ! polydactyly
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: disease_has_feature HP:0010442 ! Polydactyly

[Term]
id: MONDO:0011349
name: osteoma of cranial vault, familial
synonym: "osteoma of cranial vault, familial" EXACT [OMIM:603600]
xref: MEDGEN:350948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566356 {source="MONDO:equivalentTo"}
xref: OMIM:603600 {source="MONDO:equivalentTo"}
xref: UMLS:C1863677 {source="MEDGEN:350948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011350
name: autosomal dominant nonsyndromic hearing loss 17
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9726", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 17" NARROW [DOID:0110548]
synonym: "autosomal dominant nonsyndromic deafness 17" NARROW [OMIM:603622]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH9" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 17" NARROW [DOID:0110548, MONDORULE:2]
synonym: "cochleosaccular degeneration" RELATED [OMIM:603622]
synonym: "deafness, autosomal dominant 17" NARROW [MONDO:Lexical, OMIM:603622, OMIM:genemap2]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 17" NARROW [GARD:0009726]
synonym: "deafness, autosomal dominant type 17" NARROW [MONDORULE:2, OMIM:603622]
synonym: "DFNA17" NARROW ABBREVIATION [DOID:0110548, MONDO:Lexical, OMIM:603622]
synonym: "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" RELATED [GARD:0009726]
synonym: "MYH9 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonsyndromic hereditary deafness DFNA17" NARROW [GARD:0009726]
xref: DOID:0110548 {source="MONDO:equivalentTo"}
xref: GARD:9726 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110548"}
xref: MEDGEN:350942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603622 {source="DOID:0110548", source="MONDO:equivalentTo"}
xref: UMLS:C1863659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350942"}
is_a: MONDO:0019587 {source="DC-OMIM:603622", source="DOID:0110548", source="MONDO:Redundant", source="OMIM:603622"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7579 ! MYH9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7579 {source="MONDO:mim2gene_medgen"} ! MYH9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011351
name: autosomal recessive nonsyndromic hearing loss 21
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 21" NARROW [DOID:0110479]
synonym: "autosomal recessive nonsyndromic deafness 21" NARROW [OMIM:603629]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TECTA" NARROW []
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in tecta" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 21" NARROW [DOID:0110479, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 21" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 21" NARROW [MONDO:Lexical, OMIM:603629, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 21" NARROW [MONDORULE:2, OMIM:603629]
synonym: "DFNB21" NARROW ABBREVIATION [DOID:0110479, MONDO:Lexical, OMIM:603629]
synonym: "TECTA autosomal recessive nonsyndromic deafness" NARROW [MONDO:patterns/disease_series_by_gene]
synonym: "tecta autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern]
xref: DOID:0110479 {source="MONDO:equivalentTo"}
xref: GARD:22595 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110479"}
xref: MEDGEN:355030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566353 {source="MONDO:equivalentTo"}
xref: OMIM:603629 {source="DOID:0110479", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:603629"}
xref: UMLS:C1863655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355030"}
is_a: MONDO:0019588 {source="DC-OMIM:603629", source="DOID:0110479", source="MONDO:Redundant", source="OMIM:603629"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11720 ! TECTA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11720 {source="MONDO:mim2gene_medgen"} ! TECTA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011352
name: neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
synonym: "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia" EXACT [OMIM:603641]
xref: MEDGEN:355029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566352 {source="MONDO:equivalentTo"}
xref: OMIM:603641 {source="MONDO:equivalentTo"}
xref: UMLS:C1863649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355029"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011353
name: atrial septal defect, secundum, with various cardiac and Noncardiac defects
synonym: "atrial septal defect, secundum, with various cardiac and Noncardiac defects" EXACT [OMIM:603642]
xref: MEDGEN:400350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566351 {source="MONDO:equivalentTo"}
xref: OMIM:603642 {source="MONDO:equivalentTo"}
xref: UMLS:C1863648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400350"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011354
name: situs inversus totalis with cystic dysplasia of kidneys and pancreas
subset: gard_rare {source="GARD:8567", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "situs inversus totalis with cystic dysplasia of kidneys and pancreas" EXACT [OMIM:603643]
synonym: "situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios" RELATED [GARD:0008567]
xref: GARD:8567 {source="MONDO:GARD"}
xref: MEDGEN:400349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536666 {source="MONDO:equivalentTo"}
xref: OMIM:603643 {source="MONDO:equivalentTo"}
xref: UMLS:C1863647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400349"}
is_a: MONDO:0010029 {source="MESH:C536666", source="https://orcid.org/0000-0002-6601-2165"} ! situs inversus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas" xsd:anyURI {source="GARD:0008567"}

[Term]
id: MONDO:0011355
name: cone-rod dystrophy 7
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 7" EXACT [MONDO:Lexical, OMIM:603649]
synonym: "cone-rod dystrophy caused by mutation in RIMS1" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 7" EXACT [DOID:0111012, MONDORULE:1, OMIM:603649]
synonym: "CORD7" EXACT ABBREVIATION [DOID:0111012, MONDO:Lexical, OMIM:603649]
synonym: "RIMS1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111012 {source="MONDO:equivalentTo"}
xref: GARD:15356 {source="MONDO:GARD"}
xref: MEDGEN:355026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566350 {source="MONDO:equivalentTo"}
xref: OMIM:603649 {source="MONDO:equivalentTo", source="DOID:0111012"}
xref: Orphanet:1872 {source="OMIM:603649"}
xref: UMLS:C1863634 {source="MONDO:equivalentTo", source="MEDGEN:355026", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:603649", source="DOID:0111012", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17282 ! RIMS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17282 {source="MONDO:mim2gene_medgen"} ! RIMS1

[Term]
id: MONDO:0011356
name: exostosis, Dupuytren subungual
synonym: "Dupuytren subungual exostosis" RELATED [GARD:0008280]
synonym: "exostosis, Dupuytren subungual" EXACT [OMIM:603656]
synonym: "subungual exostoses" RELATED [GARD:0008280]
xref: MEDGEN:350935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535723 {source="MONDO:equivalentTo"}
xref: OMIM:603656 {source="MONDO:equivalentTo"}
xref: UMLS:C1863622 {source="MEDGEN:350935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8280/dupuytren-subungual-exostosis" xsd:anyURI {source="GARD:0008280"}

[Term]
id: MONDO:0011357
name: eccrine syringofibroadenomatosis with eyelid abnormalities
synonym: "eccrine syringofibroadenomatosis with eyelid abnormalities" EXACT [OMIM:603669]
xref: MEDGEN:355022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566347 {source="MONDO:equivalentTo"}
xref: OMIM:603669 {source="MONDO:equivalentTo"}
xref: UMLS:C1863618 {source="MEDGEN:355022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature HP:0000492 ! Abnormal eyelid morphology
relationship: disease_has_feature MONDO:0024246 ! syringofibroadenoma

[Term]
id: MONDO:0011358
name: blue nevi, familial multiple
synonym: "blue nevi, familial multiple" EXACT [OMIM:603670]
xref: MEDGEN:400340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566346 {source="MONDO:equivalentTo"}
xref: OMIM:603670 {source="MONDO:equivalentTo"}
xref: UMLS:C1863617 {source="MEDGEN:400340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature MONDO:0006680 ! blue nevus

[Term]
id: MONDO:0011359
name: acromelic frontonasal dysostosis
def: "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." [Orphanet:1827]
subset: gard_rare {source="GARD:5539", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1827"}
subset: ordo_malformation_syndrome {source="Orphanet:1827"}
subset: orphanet_rare {source="Orphanet:1827"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acromelic frontonasal dysostosis" EXACT [MONDO:Lexical, OMIM:603671, Orphanet:1827]
synonym: "acromelic frontonasal dysplasia" RELATED [Orphanet:1827]
synonym: "AFND" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603671, Orphanet:1827]
synonym: "frontonasal dysplasia acromelic" RELATED [GARD:0002393]
synonym: "Toriello syndrome" EXACT [Orphanet:1827]
xref: DOID:0060342 {source="MONDO:equivalentTo"}
xref: GARD:5539 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:1827/attributed", source="Orphanet:1827/ntbt", source="Orphanet:1827"}
xref: MEDGEN:350933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535657 {source="Orphanet:1827/e", source="Orphanet:1827"}
xref: MESH:C566345 {source="MONDO:equivalentTo"}
xref: OMIM:603671 {source="DOID:0060342", source="Orphanet:1827/e", source="MONDO:equivalentTo", source="Orphanet:1827"}
xref: Orphanet:1827 {source="MONDO:equivalentTo", source="OMIM:603671"}
xref: SCTID:715427008 {source="MONDO:equivalentTo"}
xref: UMLS:C1863616 {source="MEDGEN:350933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016643 {source="Orphanet:1827"} ! frontonasal dysplasia
is_a: MONDO:0018237 {source="Orphanet:1827"} ! acrofacial dysostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29316 {source="MONDO:mim2gene_medgen"} ! ZSWIM6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic" xsd:anyURI {source="GARD:0002393"}

[Term]
id: MONDO:0011360
name: autosomal recessive nonsyndromic hearing loss 14
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31." [DOID:0110469, PMID:9887371]
subset: gard_rare {source="GARD:22596", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 14" NARROW [DOID:0110469]
synonym: "autosomal recessive nonsyndromic deafness 14" NARROW [OMIM:603678]
synonym: "autosomal recessive nonsyndromic deafness type 14" NARROW [DOID:0110469, MONDORULE:2]
synonym: "deafness, autosomal recessive 14" NARROW [MONDO:Lexical, OMIM:603678, OMIM:genemap2]
synonym: "DFNB14" NARROW ABBREVIATION [DOID:0110469, MONDO:Lexical, OMIM:603678]
xref: DOID:0110469 {source="MONDO:equivalentTo"}
xref: GARD:22596 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110469"}
xref: MEDGEN:350931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566344 {source="MONDO:equivalentTo"}
xref: OMIM:603678 {source="DOID:0110469", source="MONDO:equivalentTo"}
xref: UMLS:C1863613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350931"}
is_a: MONDO:0019588 {source="DC-OMIM:603678", source="DOID:0110469", source="OMIM:603678"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011361
name: prostate cancer/brain cancer susceptibility
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "Capb" RELATED [OMIM:603688]
synonym: "Pcbc" RELATED [OMIM:603688]
synonym: "prostate cancer/brain cancer susceptibility" EXACT [OMIM:603688]
synonym: "prostate cancer/brain cancer susceptibility, somatic" EXACT [OMIM:603688, OMIM:genemap2]
xref: MEDGEN:400334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603688 {source="MONDO:equivalentTo"}
xref: UMLS:C1863600 {source="MEDGEN:400334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:603688", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0008315 {source="Orphanet:1331/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! prostate cancer
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3393 {source="MONDO:mim2gene_medgen"} ! EPHB2
relationship: predisposes_towards MONDO:0001657 {source="OMIM:603688"} ! brain cancer
relationship: predisposes_towards MONDO:0008315 {source="OMIM:603688"} ! prostate cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011362
name: myopathy, myofibrillar, 9, with early respiratory failure
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178464"}
subset: orphanet_rare {source="Orphanet:178464"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADMERF" EXACT ABBREVIATION [Orphanet:178464]
synonym: "distal myopathy with early respiratory muscle involvement" EXACT [MONDO:0011859]
synonym: "Edstrom myopathy" EXACT [OMIM:603689]
synonym: "Edström myopathy" EXACT [Orphanet:178464]
synonym: "hereditary inclusion body myopathy with early respiratory failure" EXACT [Orphanet:178464]
synonym: "hereditary proximal myopathy with early respiratory failure" EXACT [OMIM:603689]
synonym: "HIBM-ERF" EXACT [Orphanet:178464]
synonym: "HMERF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603689, Orphanet:178464]
synonym: "HMERF-ERF" EXACT [GARD:0012591]
synonym: "myofibrillar myopathy with early respiratory failure" EXACT [Orphanet:178464]
synonym: "myopathy, distal, with early respiratory failure, autosomal dominant" EXACT [OMIM:607569]
synonym: "myopathy, proximal, with early respiratory muscle involvement" EXACT [OMIM:603689]
xref: DOID:0111188 {source="MONDO:equivalentTo"}
xref: GARD:12591 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:178464/attributed", source="Orphanet:178464/ntbt", source="Orphanet:178464", source="Orphanet:34521/attributed", source="Orphanet:34521/ntbt", source="Orphanet:34521"}
xref: MEDGEN:350930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564377 {source="MONDO:equivalentTo"}
xref: MESH:C566343 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:603689 {source="Orphanet:178464", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:178464/e"}
xref: OMIM:607569 {source="MONDO:equivalentObsolete", source="Orphanet:34521/e", source="Orphanet:34521"}
xref: Orphanet:178464 {source="OMIM:603689", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:34521 {source="OMIM:607569", source="MONDO:equivalentObsolete"}
xref: SCTID:702373006 {source="MONDO:equivalentTo"}
xref: SCTID:733490006 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1863599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350930"}
is_a: MONDO:0016106 {source="Orphanet:178464"} ! progressive muscular dystrophy
is_a: MONDO:0016108 {source="Orphanet:34521"} ! autosomal dominant distal myopathy
is_a: MONDO:0016112 {source="Orphanet:178464"} ! hereditary inclusion-body myopathy
is_a: MONDO:0018949 {source="DC-OMIM:607569", source="MONDO:Redundant", source="Orphanet:34521/inferred"} ! distal myopathy
is_a: MONDO:0100494 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal dominant titinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure" xsd:anyURI {source="GARD:0012591"}

[Term]
id: MONDO:0011363
name: diabetes mellitus, noninsulin-dependent, 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diabetes mellitus, noninsulin-dependent, 3" EXACT [OMIM:603694]
synonym: "diabetes mellitus, noninsulin-dependent, type 3" EXACT [MONDORULE:1, OMIM:603694]
synonym: "NIDDM3" RELATED ABBREVIATION [OMIM:603694]
synonym: "noninsulin-dependent diabetes mellitus 3" RELATED [OMIM:603694]
synonym: "type 2 diabetes mellitus 3" EXACT [OMIM:603694, OMIM:genemap2]
xref: MEDGEN:400332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566342 {source="MONDO:equivalentTo"}
xref: OMIM:603694 {source="MONDO:equivalentTo"}
xref: UMLS:C1863594 {source="MEDGEN:400332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005148 {source="DC-OMIM:603694", source="MESH:C566342"} ! type 2 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011364
name: autosomal recessive nonsyndromic hearing loss 16
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 16" NARROW [DOID:0110471]
synonym: "autosomal recessive nonsyndromic deafness 16" NARROW [OMIM:603720]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in STRC" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 16" NARROW [DOID:0110471, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 16" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 16" NARROW [MONDO:Lexical, OMIM:603720, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 16" NARROW [MONDORULE:2, OMIM:603720]
synonym: "DFNB16" NARROW ABBREVIATION [DOID:0110471, MONDO:Lexical, OMIM:603720]
synonym: "STRC autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110471 {source="MONDO:equivalentTo"}
xref: GARD:22597 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110471"}
xref: MEDGEN:350211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566339 {source="MONDO:equivalentTo"}
xref: OMIM:603720 {source="MONDO:equivalentTo", source="DOID:0110471"}
xref: UMLS:C1863561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350211"}
is_a: MONDO:0019588 {source="DC-OMIM:603720", source="DOID:0110471", source="MONDO:Redundant", source="OMIM:603720"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16035 ! STRC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16035 {source="MONDO:mim2gene_medgen"} ! STRC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011365
name: blepharophimosis - intellectual disability syndrome, SBBYS type
def: "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." [Orphanet:3047]
subset: gard_rare {source="GARD:16618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3047"}
subset: ordo_malformation_syndrome {source="Orphanet:3047"}
subset: orphanet_rare {source="Orphanet:3047"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis - intellectual disability syndrome, SBBYS type" EXACT CLINGEN_LABEL []
synonym: "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:3047]
synonym: "Ohdo syndrome, SBBYS variant" EXACT [DOID:0060290, MONDO:Lexical, OMIM:603736]
synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" EXACT [DOID:0060290, OMIM:603736, Orphanet:3047]
synonym: "SBBYSS" EXACT ABBREVIATION [DOID:0060290, MONDO:Lexical, OMIM:603736, Orphanet:3047]
synonym: "SBBYSS syndrome" EXACT [OMIM:603736, OMIM:genemap2]
synonym: "Young-Simpson syndrome" RELATED [OMIM:603736]
xref: DOID:0060290 {source="MONDO:equivalentTo"}
xref: GARD:16618 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3047/attributed", source="Orphanet:3047/ntbt", source="Orphanet:3047"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:350209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536717 {source="MONDO:equivalentTo", source="DOID:0060290"}
xref: NANDO:1200681 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200982 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:603736 {source="Orphanet:3047", source="MONDO:equivalentTo", source="Orphanet:3047/e", source="DOID:0060290"}
xref: Orphanet:3047 {source="MONDO:equivalentTo", source="OMIM:603736", source="DOID:0060290"}
xref: SCTID:699298009 {source="MONDO:equivalentTo", source="DOID:0060290"}
xref: UMLS:C1863557 {source="MEDGEN:350209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000734 {source="DC-OMIM:603736", source="DOID:0060290"} ! Ohdo syndrome and variants
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17582 {source="MONDO:mim2gene_medgen"} ! KAT6B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0011366
name: ovarian germ cell tumor
def: "A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." [NCIT:C3873]
comment: Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor'
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "germ cell neoplasm of ovary" EXACT [DOID:2156, NCIT:C3873]
synonym: "germ cell neoplasm of the ovary" EXACT [NCIT:C3873]
synonym: "germ cell tumor of ovary" EXACT [NCIT:C3873]
synonym: "germ cell tumor of the ovary" EXACT [NCIT:C3873]
synonym: "germ cell tumour of ovary" EXACT OMO:0003005 []
synonym: "germ cell tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian germ cell cancer" RELATED [OMIM:603737]
synonym: "ovarian germ cell neoplasm" EXACT [NCIT:C3873]
synonym: "ovarian germ cell tumor" EXACT [DOID:2156, NCIT:C3873]
synonym: "ovary germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "ovary germ cell tumour" EXACT OMO:0003005 []
xref: DOID:2156 {source="MONDO:equivalentTo"}
xref: EFO:1000419 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:65958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3873 {source="EFO:1000419", source="DOID:2156", source="MONDO:equivalentTo"}
xref: OMIM:603737 {source="DOID:2156", source="MONDO:equivalentTo"}
xref: ONCOTREE:OGCT {source="MONDO:equivalentTo"}
xref: Orphanet:35807 {source="OMIM:603737"}
xref: SCTID:237059008 {source="DOID:2156", source="MONDO:equivalentTo"}
xref: UMLS:C0238324 {source="MONDO:equivalentTo", source="MEDGEN:65958", source="MONDO:MEDGEN"}
is_a: MONDO:0005040 {source="EFO:1000419", source="MONDO:Redundant", source="NCIT:C3873"} ! germ cell tumor
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C3873"} ! ovarian neoplasm
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0011367
name: Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
def: "A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally." [https://orcid.org/0000-0001-5208-3432, PMID:22440536]
synonym: "acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia" RELATED [GARD:0010076]
synonym: "acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" EXACT [OMIM:603740]
xref: MEDGEN:355009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538181 {source="MONDO:equivalentTo"}
xref: OMIM:603740 {source="MONDO:equivalentTo"}
xref: UMLS:C1863556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355009"}
is_a: MONDO:0003847 {source="MESH:C538181/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10076/acrodysplasia-with-ossification-abnormalities-short-stature-and-fibular-hypoplasia" xsd:anyURI {source="GARD:0010076"}

[Term]
id: MONDO:0011368
name: papillary thyroid Microcarcinoma
def: "A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population." [NCIT:P378]
subset: gard_rare {source="GARD:15358", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "papillary Microcarcinoma of the thyroid" EXACT [NCIT:C46004]
synonym: "papillary Microcarcinoma of the thyroid gland" EXACT [NCIT:C46004]
synonym: "papillary thyroid gland Microcarcinoma" EXACT [NCIT:C46004]
synonym: "papillary thyroid Microcarcinoma" EXACT [OMIM:603744]
synonym: "thyroid gland papillary Microcarcinoma" EXACT [NCIT:C46004]
xref: GARD:15358 {source="MONDO:GARD"}
xref: ICDO:8341/3 {source="NCIT:C46004"}
xref: MEDGEN:313563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563277 {source="MONDO:equivalentTo"}
xref: NCIT:C46004 {source="MONDO:equivalentTo"}
xref: OMIM:603744 {source="MONDO:equivalentTo"}
xref: Orphanet:319487 {source="OMIM:603744"}
xref: UMLS:C1709457 {source="MEDGEN:313563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma

[Term]
id: MONDO:0011369
name: hypercholesterolemia, autosomal dominant, 3
def: "Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hypercholesterolemia caused by mutation in PCSK9" EXACT [MONDO:design_pattern]
synonym: "Fh3" RELATED [OMIM:603776]
synonym: "HCHOLA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603776]
synonym: "hypercholesterolemia, autosomal dominant, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:603776]
synonym: "hypercholesterolemia, autosomal dominant, type 3" EXACT [MONDORULE:1, OMIM:603776]
synonym: "hypercholesterolemia, familial, 3" EXACT [OMIM:603776, OMIM:genemap2]
synonym: "low density lipoprotein cholesterol level QTL 1" EXACT [OMIM:603776, OMIM:genemap2]
synonym: "low density lipoprotein cholesterol level quantitative trait locus 1" RELATED [OMIM:603776]
synonym: "PCSK9 familial hypercholesterolemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:355007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566337 {source="MONDO:equivalentTo"}
xref: OMIM:603776 {source="MONDO:equivalentTo"}
xref: Orphanet:406 {source="OMIM:603776"}
xref: UMLS:C1863551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355007"}
is_a: MONDO:0005439 {source="DC-OMIM:603776", source="MONDO:Redundant"} ! familial hypercholesterolemia
intersection_of: MONDO:0005439 ! familial hypercholesterolemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20001 ! PCSK9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20001 {source="MONDO:mim2gene_medgen"} ! PCSK9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011370
name: Stargardt disease 4
def: "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PROM1 Stargardt disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Stargardt disease 4" EXACT [MONDO:Lexical, OMIM:603786]
synonym: "Stargardt disease caused by mutation in PROM1" EXACT [MONDO:design_pattern]
synonym: "Stargardt disease type 4" EXACT [MONDORULE:1, OMIM:603786]
synonym: "STGD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603786]
xref: GARD:15359 {source="MONDO:GARD"}
xref: MEDGEN:355004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535521 {source="MONDO:equivalentTo"}
xref: OMIM:603786 {source="MONDO:equivalentTo"}
xref: Orphanet:827 {source="OMIM:603786"}
xref: UMLS:C1863534 {source="MONDO:equivalentTo", source="MEDGEN:355004", source="MONDO:MEDGEN"}
is_a: MONDO:0019353 {source="DC-OMIM:603786", source="MONDO:Redundant"} ! Stargardt disease
intersection_of: MONDO:0019353 ! Stargardt disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 ! PROM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1

[Term]
id: MONDO:0011371
name: hydroa vacciniforme, familial
def: "An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:10079", source="MONDO:GARD"}
subset: rare
synonym: "familial hydroa vacciniforme" RELATED [GARD:0010079]
synonym: "hereditary hydroa vacciniforme" EXACT [MONDO:patterns/hereditary]
synonym: "hydroa vacciniforme, familial" EXACT [OMIM:603794]
xref: GARD:10079 {source="MONDO:GARD"}
xref: MEDGEN:355003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536077 {source="MONDO:equivalentTo"}
xref: OMIM:603794 {source="MONDO:equivalentTo"}
xref: UMLS:C1863533 {source="MEDGEN:355003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018024 {source="MESH:C536077", source="MONDO:Redundant"} ! hydroa vacciniforme
intersection_of: MONDO:0018024 ! hydroa vacciniforme
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10079/hydroa-vacciniforme-familial" xsd:anyURI {source="GARD:0010079"}

[Term]
id: MONDO:0011372
name: microcephaly with simplified gyral pattern
subset: gard_rare {source="GARD:15360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microcephaly with simplified gyral pattern" EXACT [OMIM:603802]
xref: GARD:15360 {source="MONDO:GARD"}
xref: MEDGEN:350198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566332 {source="MONDO:equivalentTo"}
xref: OMIM:603802 {source="MONDO:equivalentTo"}
xref: UMLS:C1863516 {source="MEDGEN:350198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="Orphanet:2512/btnt"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0011373
name: urinary tract infections, recurrent, susceptibility to
subset: predisposition
synonym: "urinary tract infections, recurrent, susceptibility to" EXACT [OMIM:603806]
xref: MEDGEN:350196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603806 {source="MONDO:equivalentTo"}
xref: UMLS:C1863514 {source="MEDGEN:350196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:603806", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0100338 {source="OMIM:603806", source="https://orcid.org/0000-0001-5208-3432"} ! urinary tract infection
relationship: predisposes_towards MONDO:0100338 {source="OMIM:603806"} ! urinary tract infection
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011374
name: hypercholesterolemia, familial, 4
def: "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." [NCIT:C128114]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18614", source="MONDO:GARD"}
subset: rare
synonym: "ARH" EXACT ABBREVIATION [DOID:0090105, MONDO:Lexical, OMIM:603813]
synonym: "ARH1" NARROW ABBREVIATION [DOID:0090105]
synonym: "ARH2" NARROW ABBREVIATION [DOID:0090105]
synonym: "autosomal recessive hypercholesterolemia 1" NARROW [DOID:0090105]
synonym: "autosomal recessive hypercholesterolemia 2" NARROW [DOID:0090105]
synonym: "familial autosomal recessive hypercholesterolemia" EXACT [DOID:0090105]
synonym: "FHCB1" RELATED ABBREVIATION [DOID:0090105, OMIM:603813]
synonym: "FHCB1, formerly" RELATED [OMIM:603813]
synonym: "FHCB2" RELATED ABBREVIATION [DOID:0090105, OMIM:603813]
synonym: "FHCB2, formerly" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive" RELATED [MONDO:Lexical, OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive, 1" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive, 1, formerly" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive, 2" RELATED [OMIM:603813]
synonym: "hypercholesterolemia, autosomal recessive, 2, formerly" RELATED [OMIM:603813]
xref: DOID:0090105 {source="MONDO:equivalentTo"}
xref: GARD:18614 {source="MONDO:GARD"}
xref: ICD10CM:E78.0 {source="DOID:0090105"}
xref: MEDGEN:400313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566331 {source="MONDO:equivalentTo"}
xref: NCIT:C128114 {source="MONDO:equivalentTo"}
xref: OMIM:603813 {source="MONDO:equivalentTo", source="DOID:0090105"}
xref: Orphanet:391665 {source="OMIM:603813", source="DOID:0090105"}
xref: UMLS:C1863512 {source="MONDO:equivalentTo", source="MEDGEN:400313", source="MONDO:MEDGEN"}
is_a: MONDO:0037748 {source="NCIT:C128114"} ! hyperlipoproteinemia
relationship: excluded_subClassOf MONDO:0018328 {source="Orphanet:391665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! homozygous familial hypercholesterolemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18640 {source="MONDO:mim2gene_medgen"} ! LDLRAP1

[Term]
id: MONDO:0011375
name: brittle bone disorder
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brittle bone disorder" EXACT [OMIM:603828]
xref: MEDGEN:347059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565842 {source="MONDO:equivalentTo"}
xref: OMIM:603828 {source="MONDO:equivalentTo"}
xref: UMLS:C1859069 {source="MEDGEN:347059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 ! osteogenesis imperfecta

[Term]
id: MONDO:0011376
name: ventricular fibrillation, paroxysmal familial, type 1
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IVF" RELATED ABBREVIATION [OMIM:603829]
synonym: "ventricular fibrillation during myocardial infarction, susceptibility to" RELATED [OMIM:603829]
synonym: "ventricular fibrillation, familial, 1" EXACT [OMIM:603829, OMIM:genemap2]
synonym: "ventricular fibrillation, paroxysmal familial, 1" EXACT [MONDO:Lexical, OMIM:603829]
synonym: "ventricular fibrillation, paroxysmal familial, type 1" EXACT [MONDORULE:1, OMIM:603829]
synonym: "VF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603829]
xref: ICD10CM:I49.0 {source="Orphanet:228140", source="Orphanet:228140/attributed", source="Orphanet:228140/ntbt"}
xref: MEDGEN:414502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567851 {source="MONDO:equivalentTo"}
xref: OMIM:603829 {source="MONDO:equivalentTo", source="Orphanet:228140", source="Orphanet:228140/e"}
xref: Orphanet:228140 {source="OMIM:603829"}
xref: SCTID:233915000 {source="MONDO:equivalentTo"}
xref: UMLS:C2751898 {source="MEDGEN:414502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100234 {source="DC-OMIM:603829", source="MESH:C567851"} ! paroxysmal familial ventricular fibrillation
intersection_of: MONDO:0100234 ! paroxysmal familial ventricular fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011377
name: long QT syndrome 3
def: "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." [NCIT:C137959]
subset: gard_rare {source="GARD:3286", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "long QT syndrome 2/3, digenic" RELATED [OMIM:603830]
synonym: "long QT syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:603830]
synonym: "long QT syndrome 3, acquired, susceptibility to" RELATED [OMIM:603830]
synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:603830]
synonym: "long QT syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 3" EXACT [DOID:0110646, MONDORULE:1, OMIM:603830]
synonym: "LQT3" EXACT ABBREVIATION [DOID:0110646, MONDO:Lexical, OMIM:603830]
synonym: "SCN5A long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110646 {source="MONDO:equivalentTo"}
xref: GARD:3286 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="DOID:0110646"}
xref: MEDGEN:349087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565840 {source="MONDO:equivalentTo"}
xref: NCIT:C137959 {source="MONDO:equivalentTo"}
xref: OMIM:603830 {source="DOID:0110646", source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="OMIM:603830", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:603830"}
xref: UMLS:C1859062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349087"}
is_a: MONDO:0019171 {source="OMIM:603830", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110646", source="MESH:C565840", source="NCIT:C137959", source="OMIM:603830", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3" xsd:anyURI {source="GARD:0003286"}

[Term]
id: MONDO:0011378
name: obsolete CFM1
comment: This is a gene, not a disease.
synonym: "CFM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603855]
synonym: "cystic fibrosis, modifier of, 1" RELATED [MONDO:Lexical, OMIM:603855]
synonym: "meconium ileus in cystic fibrosis, susceptibility to" RELATED [OMIM:603855]
xref: OMIM:603855 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1861" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011379
name: obsolete medullary cystic kidney disease 2
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1880" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008073

[Term]
id: MONDO:0011380
name: obsolete leukoencephalopathy with vanishing white matter
xref: GARD:231 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:1200951 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200838 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6216" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800448

[Term]
id: MONDO:0011381
name: dominant beta-thalassemia
def: "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia." [Orphanet:231226]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17164", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231226"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "beta-thalassemia, dominant inclusion body type" RELATED [OMIM:603902]
synonym: "dyserythropoietic Anemia, congenital, Irish or Weatherall type" RELATED [OMIM:603902]
synonym: "inclusion body beta-thalassemia" EXACT [Orphanet:231226]
synonym: "thalassemia-beta, dominant inclusion-body" EXACT [OMIM:603902]
xref: DOID:0080770 {source="MONDO:equivalentTo"}
xref: GARD:17164 {source="MONDO:GARD"}
xref: ICD10CM:D56.1 {source="Orphanet:231226", source="Orphanet:231226/attributed", source="Orphanet:231226/ntbt"}
xref: MEDGEN:347036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565834 {source="MONDO:equivalentTo"}
xref: OMIM:603902 {source="MONDO:equivalentTo", source="Orphanet:231226", source="Orphanet:231226/e"}
xref: Orphanet:231226 {source="MONDO:equivalentTo", source="OMIM:603902"}
xref: SCTID:716682000 {source="MONDO:equivalentTo"}
xref: UMLS:C1858990 {source="MEDGEN:347036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019402 {source="DC-OMIM:603902", source="MESH:C565834", source="Orphanet:231226"} ! beta thalassemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4827 {source="MONDO:mim2gene_medgen"} ! HBB

[Term]
id: MONDO:0011382
name: sickle cell anemia
def: "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." [Orphanet:232]
subset: gard_rare {source="GARD:8614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1714"}
subset: ordo_disorder {source="Orphanet:232"}
subset: orphanet_rare {source="Orphanet:232"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "drepanocytosis" EXACT [DOID:10923]
synonym: "Haemoglobin S disease" RELATED OMO:0003005 []
synonym: "Haemoglobin S disease without crisis" EXACT OMO:0003005 []
synonym: "haemoglobin SC disease" EXACT OMO:0003005 []
synonym: "Hb SC disease" EXACT [DOID:10923]
synonym: "Hb-S/Hb-C disease" EXACT [DOID:10923]
synonym: "Hb-SS disease without crisis" EXACT [DOID:10923]
synonym: "HbS disease" RELATED [GARD:0008614]
synonym: "Hemoglobin S disease" RELATED [GARD:0008614]
synonym: "Hemoglobin S disease without crisis" EXACT [DOID:10923]
synonym: "hemoglobin SC disease" EXACT [DOID:10923]
synonym: "HPA 1 recognition polymorphism, beta-globin-related" RELATED [MONDO:Lexical, OMIM:143020]
synonym: "HPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143020]
synonym: "restriction fragment length polymorphism, sickle cell Anemia-related" RELATED [OMIM:143020]
synonym: "sickle cell anemia" EXACT [OMIM:603903]
synonym: "Sickle Cell Disease" EXACT [NORD:1714]
synonym: "sickle cell disease" EXACT [NORD:1714, Orphanet:232]
synonym: "sickle-cell/Hb-C disease without crisis" EXACT [DOID:10923, ICD9CM:282.63]
synonym: "sickling disorder due to Haemoglobin S" EXACT OMO:0003005 []
synonym: "sickling disorder due to Hemoglobin S" EXACT [NCIT:C34383]
xref: DOID:0081445 {source="MONDO:equivalentTo"}
xref: DOID:10923 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:8614 {source="MONDO:GARD"}
xref: ICD10CM:D57 {source="DOID:10923"}
xref: ICD10CM:D57.0 {source="Orphanet:232/specific", source="Orphanet:232/btnt", source="Orphanet:232"}
xref: ICD10CM:D57.1 {source="Orphanet:232/specific", source="DOID:10923", source="Orphanet:232/btnt", source="Orphanet:232"}
xref: ICD10CM:D57.2 {source="Orphanet:232/specific", source="DOID:10923", source="Orphanet:232/btnt", source="Orphanet:232"}
xref: ICD10CM:D57.20 {source="DOID:10923"}
xref: ICD9:282.6 {source="DOID:10923"}
xref: ICD9:282.60 {source="DOID:10923"}
xref: ICD9:282.63 {source="DOID:10923"}
xref: MedDRA:10040641 {source="Orphanet:232/e", source="Orphanet:232"}
xref: MEDGEN:287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000755 {source="Orphanet:232/e", source="MONDO:equivalentTo", source="DOID:10923", source="Orphanet:232"}
xref: MESH:D006450 {source="DOID:10923"}
xref: NANDO:2200624 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34383 {source="MONDO:equivalentTo", source="DOID:10923"}
xref: NCIT:C34676 {source="DOID:10923"}
xref: NORD:1714 {source="MONDO:NORD"}
xref: OMIM:143020 {source="MONDO:relatedTo"}
xref: OMIM:603903 {source="Orphanet:232/e", source="MONDO:equivalentTo", source="DOID:10923", source="Orphanet:232"}
xref: Orphanet:232 {source="MONDO:equivalentTo", source="OMIM:603903"}
xref: SCTID:127040003 {source="DOID:10923"}
xref: SCTID:154798006 {source="DOID:10923"}
xref: SCTID:191194009 {source="DOID:10923"}
xref: SCTID:191195005 {source="DOID:10923"}
xref: SCTID:191199004 {source="DOID:10923"}
xref: SCTID:276267006 {source="DOID:10923"}
xref: SCTID:35434009 {source="DOID:10923"}
xref: SCTID:417357006 {source="DOID:10923"}
xref: SCTID:80046004 {source="DOID:10923"}
xref: UMLS:C0002895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:287"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005570 ! hematologic disorder
is_a: MONDO:0006025 {source="DOID:10923", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019050 {source="EFO:1001797/inferred", source="MESH:D000755", source="MONDO:Redundant", source="NCIT:C34383", source="Orphanet:232/inferred"} ! inherited hemoglobinopathy
relationship: excluded_subClassOf MONDO:0015770 {source="MONDO:0015890-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_subClassOf MONDO:0018374 {source="MONDO:0018377-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! secondary avascular necrosis
relationship: excluded_subClassOf MONDO:0018384 {source="MONDO:0018377-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete avascular necrosis of genetic origin
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:603903", source="Orphanet:232"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4827 {source="MONDO:mim2gene_medgen"} ! HBB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7391" xsd:anyURI

[Term]
id: MONDO:0011383
name: autoimmune lymphoproliferative syndrome type 2A
def: "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39576]
subset: gard_rare {source="GARD:15361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALPS-CASP10" EXACT [NCIT:C39576]
synonym: "ALPS2A" EXACT ABBREVIATION [DOID:0110115, MONDO:Lexical, OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP10" EXACT [MONDO:design_pattern]
synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT [DOID:0110115]
synonym: "autoimmune lymphoproliferative syndrome, type 2" RELATED [OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome, type 2A" RELATED [OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome, type II" EXACT [OMIM:603909, OMIM:genemap2]
synonym: "autoimmune lymphoproliferative syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:603909]
synonym: "autoimmune lymphoproliferative syndrome-CASP10 variant" EXACT [NCIT:C39576]
synonym: "CASP10 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "type 2 ALPS" EXACT [NCIT:C39576]
synonym: "type 2 autoimmune lymphoproliferative syndrome" EXACT [NCIT:C39576]
xref: DOID:0110115 {source="MONDO:equivalentTo"}
xref: GARD:15361 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="DOID:0110115"}
xref: MEDGEN:349065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565833 {source="MONDO:equivalentTo"}
xref: NCIT:C39576 {source="MONDO:equivalentTo"}
xref: OMIM:603909 {source="DOID:0110115", source="MONDO:equivalentTo"}
xref: Orphanet:3261 {source="OMIM:603909"}
xref: UMLS:C1858968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349065"}
is_a: MONDO:0017979 {source="DC-OMIM:603909", source="DOID:0110115", source="MESH:C565833", source="MONDO:Redundant", source="NCIT:C39576"} ! autoimmune lymphoproliferative syndrome
intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1500 ! CASP10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1500 {source="MONDO:mim2gene_medgen"} ! CASP10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011384
name: hypertension, essential, susceptibility to, 1
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 1" EXACT [OMIM:603918]
synonym: "hypertension, essential, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:603918]
synonym: "Hyt1" RELATED [OMIM:603918]
xref: MEDGEN:395143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603918 {source="MONDO:equivalentTo"}
xref: UMLS:C1858967 {source="MONDO:equivalentTo", source="MEDGEN:395143", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:603918", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0001134 {source="OMIM:603918", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
relationship: excluded_subClassOf MONDO:0007781 {source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension, genetic
relationship: predisposes_towards MONDO:0007781 {source="OMIM:603918"} ! essential hypertension, genetic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011385
name: intervertebral disk degenerative disorder
def: "Any disease of a degenerative nature that affects the intervertebral disk." [NCIT:C26983]
subset: otar {source="MONDO:OTAR"}
synonym: "cervical disc degenerative disease" NARROW OMO:0003005 []
synonym: "cervical disk degenerative disease" NARROW [DOID:90, NCIT:C27156]
synonym: "degenerative disc disease" EXACT OMO:0003005 []
synonym: "degenerative disk disease" EXACT [DOID:90]
synonym: "degenerative disorder of intervertebral disc" EXACT OMO:0003005 []
synonym: "degenerative disorder of intervertebral disk" EXACT [MONDO:design_pattern]
synonym: "IDD" EXACT ABBREVIATION [OMIM:603932]
synonym: "intervertebral Disc Degeneration" EXACT [NCIT:C26983]
synonym: "intervertebral disc degeneration" EXACT OMO:0003005 []
synonym: "intervertebral Disc degenerative disease" EXACT [NCIT:C26983]
synonym: "intervertebral Disc degenerative disorder" EXACT [NCIT:C26983]
synonym: "intervertebral disc disease" EXACT OMO:0003005 []
synonym: "intervertebral disk degeneration" EXACT [DOID:90]
synonym: "intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "intervertebral disk disease" EXACT [MONDO:Lexical, OMIM:603932]
synonym: "lumbar disc degeneration" NARROW OMO:0003005 []
synonym: "lumbar disk degeneration" NARROW [DOID:90]
synonym: "vertebral Disc degenerative disease" EXACT [NCIT:C26983]
synonym: "vertebral Disc degenerative disorder" EXACT [NCIT:C26983]
synonym: "vertebral disc disease" EXACT OMO:0003005 []
synonym: "vertebral disk disease" EXACT [DOID:90]
xref: DOID:90 {source="EFO:0004994", source="MONDO:equivalentTo"}
xref: EFO:0004994 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:722.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055959 {source="MONDO:equivalentTo"}
xref: NCIT:C26983 {source="MONDO:equivalentTo"}
xref: NCIT:C27156 {source="DOID:90"}
xref: OMIM:603932 {source="MONDO:equivalentTo"}
xref: SCTID:156633005 {source="DOID:90"}
xref: SCTID:77547008 {source="MONDO:equivalentTo"}
xref: UMLS:C0158266 {source="MEDGEN:102357", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000812 {source="MESH:D055959"} ! vertebral column disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000834 {source="DOID:90", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete bone deterioration disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5633" xsd:anyURI

[Term]
id: MONDO:0011386
name: microvascular complications of diabetes, susceptibility to, 1
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "microvascular complications of diabetes 1" EXACT [OMIM:603933, OMIM:genemap2]
synonym: "microvascular complications of diabetes, protection against" RELATED [OMIM:603933]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in VEGFA" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to" RELATED [OMIM:603933]
synonym: "microvascular complications of diabetes, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:603933]
synonym: "microvascular complications of diabetes, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:603933]
synonym: "MVCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603933]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "neuropathy, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:603933]
synonym: "VEGFA microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:382957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603933 {source="MONDO:equivalentTo"}
xref: UMLS:C2676832 {source="MEDGEN:382957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000065 {source="DC-OMIM:603933", source="MONDO:Redundant", source="OMIM:603933"} ! microvascular complications of diabetes, susceptibility
intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12680 ! VEGFA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12680 {source="MONDO:mim2gene_medgen"} ! VEGFA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011387
name: psoriasis 4, susceptibility to
synonym: "psoriasis 4, susceptibility to" EXACT [MONDO:Lexical, OMIM:603935]
synonym: "psoriasis susceptibility 4" EXACT [OMIM:603935, OMIM:genemap2]
synonym: "PSORS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603935]
xref: DOID:0111280 {source="MONDO:equivalentTo"}
xref: MEDGEN:347765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603935 {source="MONDO:equivalentTo"}
xref: UMLS:C1858958 {source="MEDGEN:347765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:603935"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:603935", source="OMIM:603935"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011388
name: obsolete cervical cancer
synonym: "cervical cancer" RELATED [OMIM:603956]
is_obsolete: true

[Term]
id: MONDO:0011389
name: autosomal dominant nonsyndromic hearing loss 16
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3." [DOID:0110547, PMID:10364526]
subset: gard_rare {source="GARD:18110", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 16" NARROW [DOID:0110547]
synonym: "autosomal dominant nonsyndromic deafness 16" NARROW [OMIM:603964]
synonym: "autosomal dominant nonsyndromic deafness type 16" NARROW [DOID:0110547, MONDORULE:2]
synonym: "deafness, autosomal dominant 16" NARROW [MONDO:Lexical, OMIM:603964, OMIM:genemap2]
synonym: "DFNA16" NARROW ABBREVIATION [DOID:0110547, MONDO:Lexical, OMIM:603964]
xref: DOID:0110547 {source="MONDO:equivalentTo"}
xref: GARD:18110 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110547"}
xref: MEDGEN:349054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565832 {source="MONDO:equivalentTo"}
xref: OMIM:603964 {source="DOID:0110547", source="MONDO:equivalentTo"}
xref: UMLS:C1858916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349054"}
is_a: MONDO:0019587 {source="DC-OMIM:603964", source="DOID:0110547", source="OMIM:603964"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011390
name: focal segmental glomerulosclerosis 2
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "focal segmental glomerulosclerosis 2" EXACT [MONDO:Lexical, OMIM:603965]
synonym: "focal segmental glomerulosclerosis caused by mutation in TRPC6" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 2" EXACT [DOID:0111129, MONDORULE:1, OMIM:603965]
synonym: "FSGS2" EXACT ABBREVIATION [DOID:0111129, MONDO:Lexical, OMIM:603965]
synonym: "glomerulosclerosis, focal segmental, 2" RELATED [OMIM:603965]
synonym: "TRPC6 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111129 {source="MONDO:equivalentTo"}
xref: GARD:15362 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="DOID:0111129"}
xref: MEDGEN:349053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565831 {source="MONDO:equivalentTo"}
xref: OMIM:603965 {source="DOID:0111129", source="MONDO:equivalentTo"}
xref: UMLS:C1858915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349053"}
is_a: MONDO:0005363 {source="DC-OMIM:603965", source="DOID:0111129", source="MESH:C565831", source="MONDO:Redundant", source="OMIM:603965"} ! inherited focal segmental glomerulosclerosis
intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12338 ! TRPC6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12338 {source="MONDO:mim2gene_medgen"} ! TRPC6

[Term]
id: MONDO:0011391
name: megalencephalic leukoencephalopathy with subcortical cysts
def: "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." [Orphanet:2478]
subset: gard_rare {source="GARD:3445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2478"}
subset: orphanet_rare {source="Orphanet:2478"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "megalencephalic leukodystrophy" EXACT [Orphanet:2478]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" RELATED [MONDO:Lexical, OMIM:604004]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 1" EXACT [MONDORULE:1, OMIM:604004]
synonym: "megalencephaly-cystic leukodystrophy" RELATED [GARD:0003445]
synonym: "megalencephaly-cystic leukodystrophy syndrome" EXACT [Orphanet:2478]
synonym: "MLC" EXACT ABBREVIATION [Orphanet:2478]
synonym: "MLC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604004]
synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [Orphanet:2478]
synonym: "Van der Knaap syndrome" EXACT [Orphanet:2478]
xref: DOID:0080315 {source="MONDO:equivalentTo"}
xref: GARD:3445 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:2478/attributed", source="Orphanet:2478/ntbt", source="Orphanet:2478"}
xref: MEDGEN:347006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536141 {source="MONDO:equivalentTo"}
xref: NANDO:1200950 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200837 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:2478 {source="OMIM:604004", source="MONDO:equivalentTo"}
xref: SCTID:703536004 {source="MONDO:equivalentTo"}
xref: UMLS:C1858854 {source="MEDGEN:347006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000137 {source="DC-OMIM:604004", source="OMIM:604004"} ! leukoencephalopathy, megalencephalic
is_a: MONDO:0019046 {source="Orphanet:2478"} ! leukodystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts" xsd:anyURI {source="GARD:0003445"}

[Term]
id: MONDO:0011392
name: autosomal recessive nonsyndromic hearing loss 20
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter." [DOID:0110478, PMID:10196710]
subset: gard_rare {source="GARD:22598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 20" NARROW [DOID:0110478]
synonym: "autosomal recessive nonsyndromic deafness 20" NARROW [OMIM:604060]
synonym: "autosomal recessive nonsyndromic deafness type 20" NARROW [DOID:0110478, MONDORULE:2]
synonym: "deafness, autosomal recessive 20" NARROW [MONDO:Lexical, OMIM:604060, OMIM:genemap2]
synonym: "DFNB20" NARROW ABBREVIATION [DOID:0110478, MONDO:Lexical, OMIM:604060]
xref: DOID:0110478 {source="MONDO:equivalentTo"}
xref: GARD:22598 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110478"}
xref: MEDGEN:347005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565828 {source="MONDO:equivalentTo"}
xref: OMIM:604060 {source="DOID:0110478", source="MONDO:equivalentTo"}
xref: UMLS:C1858840 {source="MEDGEN:347005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:604060", source="DOID:0110478", source="OMIM:604060"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011393
name: hypoalphalipoproteinemia, primary, 1
def: "Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial HDL deficiency" RELATED [GARD:0002872, OMIM:604091]
synonym: "FHA" RELATED ABBREVIATION [GARD:0002872]
synonym: "FHD" RELATED ABBREVIATION [GARD:0002872]
synonym: "HDL cholesterol, Low serum" RELATED [OMIM:604091]
synonym: "HDL deficiency, familial, 1" EXACT [OMIM:604091, OMIM:genemap2]
synonym: "HDLD" RELATED ABBREVIATION [GARD:0002872]
synonym: "high density lipoprotein deficiency" RELATED [OMIM:604091]
synonym: "hypoalphalipoproteinemia, familial" EXACT [OMIM:604091]
synonym: "hypoalphalipoproteinemia, primary" RELATED [OMIM:604091]
xref: DOID:0080957 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052456
xref: OMIM:604091 {source="MONDO:equivalentTo"}
xref: UMLS:C5231558 {source="MONDO:equivalentTo", source="MEDGEN:1684828", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease
is_a: MONDO:0017773 {source="https://orcid.org/0000-0001-5208-3432"} ! hypoalphalipoproteinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29 {source="OMIM:604091"} ! ABCA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI

[Term]
id: MONDO:0011394
name: obsolete keratosis pilaris atrophicans
is_obsolete: true
replaced_by: MONDO:0018855

[Term]
id: MONDO:0011395
name: cone-rod dystrophy 3
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ABCA4 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 3" EXACT [MONDO:Lexical, OMIM:604116]
synonym: "cone-rod dystrophy caused by mutation in ABCA4" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 3" EXACT [DOID:0111013, MONDORULE:1, OMIM:604116]
synonym: "CORD3" EXACT ABBREVIATION [DOID:0111013, MONDO:Lexical, OMIM:604116]
xref: DOID:0111013 {source="MONDO:equivalentTo"}
xref: GARD:10653 {source="MONDO:GARD"}
xref: MEDGEN:349030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565827 {source="MONDO:equivalentTo"}
xref: OMIM:604116 {source="MONDO:equivalentTo", source="DOID:0111013"}
xref: UMLS:C1858806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349030"}
is_a: MONDO:0015993 {source="DC-OMIM:604116", source="DOID:0111013", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0800406 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4-related retinopathy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 ! ABCA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="MONDO:mim2gene_medgen"} ! ABCA4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3" xsd:anyURI {source="GARD:0010653"}

[Term]
id: MONDO:0011396
name: loricrin keratoderma
def: "A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." [Orphanet:79395]
subset: gard_rare {source="GARD:16719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79395"}
subset: orphanet_rare {source="Orphanet:79395"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Camisa disease" EXACT [Orphanet:79395]
synonym: "keratoderma hereditarium mutilans with ichthyosis" EXACT [Orphanet:79395]
synonym: "keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome" EXACT [Orphanet:79395]
synonym: "loricrin keratoderma" EXACT [OMIM:604117, Orphanet:79395]
synonym: "mutilating keratoderma with ichthyosis" RELATED [OMIM:604117]
synonym: "Vohwinkel syndrome with ichthyosis" EXACT [OMIM:604117, Orphanet:79395]
synonym: "Vohwinkel syndrome, variant form" RELATED [OMIM:604117]
xref: GARD:16719 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:79395", source="Orphanet:79395/attributed", source="Orphanet:79395/ntbt"}
xref: MEDGEN:395099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565826 {source="MONDO:equivalentTo"}
xref: OMIM:604117 {source="MONDO:equivalentTo", source="Orphanet:79395", source="Orphanet:79395/e"}
xref: Orphanet:79395 {source="OMIM:604117", source="MONDO:equivalentTo"}
xref: SCTID:717183001 {source="MONDO:equivalentTo"}
xref: UMLS:C1858805 {source="MONDO:equivalentTo", source="MEDGEN:395099", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6663 {source="MONDO:mim2gene_medgen"} ! LORICRIN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011397
name: autosomal dominant cerebellar ataxia, deafness and narcolepsy
def: "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." [Orphanet:314404]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314404"}
subset: orphanet_rare {source="Orphanet:314404"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADCA-DN" RELATED [GARD:0012372]
synonym: "ADCA-DN syndrome" EXACT [Orphanet:314404]
synonym: "ADCADN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604121]
synonym: "autosomal dominant cerebellar ataxia, deafness and narcolepsy" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant cerebellar ataxia, deafness, and narcolepsy" RELATED [GARD:0012372]
synonym: "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" RELATED [GARD:0012372]
synonym: "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604121]
xref: DOID:0050968 {source="MONDO:equivalentTo"}
xref: GARD:12372 {source="MONDO:GARD"}
xref: MEDGEN:813625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604121 {source="Orphanet:314404", source="MONDO:equivalentTo", source="DOID:0050968", source="Orphanet:314404/e"}
xref: Orphanet:314404 {source="MONDO:equivalentTo", source="OMIM:604121"}
xref: UMLS:C3807295 {source="MEDGEN:813625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="Orphanet:314404"} ! sleep-wake disorder
is_a: MONDO:0019792 {source="Orphanet:314404"} ! autosomal dominant cerebellar ataxia type I
relationship: disease_has_feature HP:0030050 {source="MONDO:Wikidata"} ! Narcolepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2976 {source="MONDO:mim2gene_medgen"} ! DNMT1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy" xsd:anyURI {source="GARD:0012372"}

[Term]
id: MONDO:0011398
name: dystrophic epidermolysis bullosa pruriginosa
def: "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." [Orphanet:89843]
subset: gard_rare {source="GARD:16779", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:89843"}
subset: orphanet_rare {source="Orphanet:89843"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEB, pruriginosa" EXACT [Orphanet:89843]
synonym: "Deb, pruriginosa" RELATED [OMIM:604129]
synonym: "DEB-Pr" EXACT [Orphanet:89843]
synonym: "dystrophic epidermolysis bullosa pruriginosa" EXACT [OMIM:604129]
synonym: "epidermolysis bullosa pruriginosa" RELATED [OMIM:604129]
synonym: "pruriginous dystrophic epidermolysis bullosa" EXACT [Orphanet:89843]
xref: GARD:16779 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:89843/attributed", source="Orphanet:89843/ntbt", source="Orphanet:89843"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563192 {source="MONDO:equivalentTo"}
xref: OMIM:604129 {source="Orphanet:89843", source="MONDO:equivalentTo", source="Orphanet:89843/e"}
xref: Orphanet:89843 {source="OMIM:604129", source="MONDO:equivalentTo"}
xref: SCTID:403810008 {source="MONDO:equivalentTo"}
xref: UMLS:C1275114 {source="MEDGEN:266151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006543 {source="Orphanet:89843"} ! epidermolysis bullosa dystrophica
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1

[Term]
id: MONDO:0011399
name: alpha thalassemia spectrum
def: "An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." [Orphanet:846]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:621", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1902", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:846"}
subset: orphanet_rare {source="Orphanet:846"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "A-thalassemia" RELATED [GARD:0000621]
synonym: "alpha thalassaemia" EXACT [DOID:1099]
synonym: "alpha thalassemia spectrum" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
synonym: "alpha-thalassemia" EXACT [DOID:1099]
synonym: "alpha-thalassemia trait" RELATED [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
synonym: "thalassemia, alpha-" EXACT [OMIM:604131, OMIM:genemap2]
synonym: "thalassemias, alpha-" EXACT [OMIM:604131, OMIM:genemap2]
xref: DOID:1099 {source="MONDO:equivalentTo"}
xref: GARD:621 {source="MONDO:GARD"}
xref: ICD10CM:D56.0 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/specific", source="Orphanet:846/e"}
xref: icd11.foundation:531667506 {source="MONDO:equivalentTo", source="Orphanet:846", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:282.43 {source="DOID:1099"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10043390 {source="Orphanet:846", source="Orphanet:846/e"}
xref: MEDGEN:1434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017085 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/e"}
xref: NANDO:2201273 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34368 {source="DOID:1099", source="MONDO:equivalentTo"}
xref: NORD:1902 {source="MONDO:NORD"}
xref: OMIM:604131 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/e"}
xref: Orphanet:846 {source="MONDO:equivalentTo", source="OMIM:604131"}
xref: SCTID:191186002 {source="DOID:1099"}
xref: SCTID:68913001 {source="DOID:1099", source="MONDO:equivalentTo"}
xref: UMLS:C0002312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1434"}
is_a: MONDO:0000984 {source="DOID:1099", source="ICD10CM:D56.0", source="MESH:D017085", source="NCIT:C34368", source="Orphanet:846/inferred"} ! thalassemia
is_a: MONDO:0005570 ! hematologic disorder
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7561" xsd:anyURI

[Term]
id: MONDO:0011400
name: dilated cardiomyopathy 1G
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15363", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1G" RELATED [MONDO:Lexical, OMIM:604145]
synonym: "cardiomyopathy, dilated, type 1G" EXACT [MONDORULE:4, OMIM:604145]
synonym: "CMD1G" EXACT ABBREVIATION [DOID:0110430, MONDO:Lexical, OMIM:604145]
synonym: "dilated cardiomyopathy type 1G" EXACT [DOID:0110430, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern]
synonym: "TTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110430 {source="MONDO:equivalentTo"}
xref: GARD:15363 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110430"}
xref: MEDGEN:347714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565824 {source="MONDO:equivalentTo"}
xref: OMIM:604145 {source="MONDO:equivalentTo", source="DOID:0110430"}
xref: UMLS:C1858763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347714"}
is_a: MONDO:0016191 ! qualitative or quantitative defects of titin
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:604145"} ! familial dilated cardiomyopathy
is_a: MONDO:0100494 {source="https://orcid.org/0000-0001-9310-0163"} ! autosomal dominant titinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7347" xsd:anyURI

[Term]
id: MONDO:0011401
name: Alzheimer disease without neurofibrillary tangles
subset: gard_rare {source="GARD:7190", source="MONDO:GARD"}
subset: rare
synonym: "AD15" EXACT ABBREVIATION [DOID:0110048, MONDO:Lexical, OMIM:611155]
synonym: "Alzheimer disease 15" EXACT [DOID:0110048, MONDO:Lexical, OMIM:611155]
synonym: "Alzheimer disease without neurofibrillary tangles" EXACT [OMIM:604154]
synonym: "Alzheimer disease-15" EXACT [OMIM:611155, OMIM:genemap2]
synonym: "Alzheimer's disease 15" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 15" EXACT [DOID:0110048, MONDORULE:2]
synonym: "Alzheimer's disease without neurofibrillary tangles" RELATED [GARD:0007190]
xref: DOID:0110048 {source="MONDO:equivalentTo"}
xref: GARD:7190 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110048"}
xref: MEDGEN:346983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536599 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MESH:C566998 {source="MONDO:equivalentTo"}
xref: OMIM:604154 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:611155 {source="MONDO:equivalentObsolete", source="DOID:0110048"}
xref: UMLS:C1858751 {source="MEDGEN:346983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004975 {source="DC-OMIM:604154", source="MESH:C536599"} ! Alzheimer disease
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011402
name: congenital cataracts-facial dysmorphism-neuropathy syndrome
def: "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." [Orphanet:48431]
subset: gard_rare {source="GARD:16645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:48431"}
subset: ordo_malformation_syndrome {source="Orphanet:48431"}
subset: orphanet_rare {source="Orphanet:48431"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract, congenital, with Facial Dysmorphism and neuropathy" RELATED [OMIM:604168]
synonym: "CCFDN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604168, Orphanet:48431]
synonym: "congenital cataracts, facial dysmorphism, and neuropathy" RELATED [MONDO:Lexical, OMIM:604168]
synonym: "congenital cataracts-facial dysmorphism-neuropathy syndrome" EXACT CLINGEN_LABEL []
xref: GARD:16645 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:48431/attributed", source="Orphanet:48431/ntbt", source="Orphanet:48431"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:346973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565822 {source="MONDO:equivalentTo"}
xref: OMIM:604168 {source="Orphanet:48431/e", source="MONDO:equivalentTo", source="Orphanet:48431"}
xref: Orphanet:48431 {source="OMIM:604168", source="MONDO:equivalentTo"}
xref: SCTID:702433001 {source="MONDO:equivalentTo"}
xref: UMLS:C1858726 {source="MEDGEN:346973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:48431", source="Orphanet:485405"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016949 {source="Orphanet:485405"} ! partial duplication of the short arm of chromosome 16
is_a: MONDO:0020046 {source="Orphanet:48431"} ! autosomal recessive degenerative and progressive cerebellar ataxia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:48431", source="Orphanet:485405", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0020165 {source="Orphanet:48431", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic epicanthus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2498 {source="MONDO:mim2gene_medgen"} ! CTDP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011403
name: left ventricular noncompaction 1
def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DTNA left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "left ventricular noncompaction 1" EXACT [MONDO:Lexical, OMIM:604169]
synonym: "left ventricular noncompaction 1 with or without congenital heart defects" RELATED [OMIM:604169]
synonym: "left ventricular noncompaction 1, with or without congenital heart defects" EXACT [OMIM:604169, OMIM:genemap2]
synonym: "left ventricular noncompaction caused by mutation in DTNA" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction type 1" EXACT [MONDORULE:1, OMIM:604169]
synonym: "LVNC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604169]
xref: MEDGEN:349005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604169 {source="MONDO:equivalentTo"}
xref: Orphanet:54260 {source="OMIM:604169"}
xref: UMLS:C1858725 {source="MEDGEN:349005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018901 {source="DC-OMIM:604169", source="MONDO:Redundant", source="OMIM:604169"} ! left ventricular noncompaction
intersection_of: MONDO:0018901 ! left ventricular noncompaction
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3057 ! DTNA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3057 {source="MONDO:mim2gene_medgen"} ! DTNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011404
name: Caronte
comment: Editor note: TODO check
synonym: "Car" RELATED [OMIM:604172]
synonym: "Caronte" EXACT [OMIM:604172]
xref: MEDGEN:349004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604172 {source="MONDO:equivalentTo"}
xref: UMLS:C1858724 {source="MEDGEN:349004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011405
name: poikiloderma with neutropenia
def: "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." [DOID:0060551, PMID:20734427]
subset: gard_rare {source="GARD:4085", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2022"}
subset: ordo_disorder {source="Orphanet:221046"}
subset: orphanet_rare {source="Orphanet:221046"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Clericuzio type poikiloderma with neutropenia" RELATED [GARD:0004085]
synonym: "PN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604173]
synonym: "poikiloderma with neutropenia" EXACT [MONDO:Lexical, OMIM:604173]
synonym: "poikiloderma with neutropenia Clericuzio type" RELATED [GARD:0004085]
synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT [Orphanet:221046]
synonym: "poikiloderma with neutropenia, Clericuzio-type" RELATED [OMIM:604173]
synonym: "Prurigo Nodularis" EXACT [NORD:2022]
xref: DOID:0060551 {source="MONDO:equivalentTo"}
xref: GARD:4085 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="Orphanet:221046", source="DOID:0060551", source="Orphanet:221046/attributed", source="Orphanet:221046/ntbt"}
xref: MEDGEN:388129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200749 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C177535 {source="MONDO:equivalentTo"}
xref: NORD:2022 {source="MONDO:NORD"}
xref: OMIM:604173 {source="Orphanet:221046", source="DOID:0060551", source="MONDO:equivalentTo", source="Orphanet:221046/e"}
xref: Orphanet:221046 {source="DOID:0060551", source="MONDO:equivalentTo", source="OMIM:604173"}
xref: UMLS:C1858723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388129"}
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
is_a: MONDO:0016382 {source="Orphanet:221046"} ! hereditary poikiloderma
relationship: disease_has_feature MONDO:0001475 {source="MONDO:Wikidata"} ! neutropenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25792 {source="MONDO:mim2gene_medgen"} ! USB1

[Term]
id: MONDO:0011406
name: cholesteatoma, congenital
synonym: "cholesteatoma, congenital" EXACT [OMIM:604183]
xref: MEDGEN:95999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562858 {source="MONDO:equivalentTo"}
xref: OMIM:604183 {source="MONDO:equivalentTo"}
xref: SCTID:232262007 {source="MONDO:equivalentTo"}
xref: UMLS:C0395886 {source="MONDO:equivalentTo", source="MEDGEN:95999", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011407
name: facial paresis, hereditary congenital, 2
subset: gard_rare {source="GARD:18436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "facial paresis, hereditary congenital, 2" EXACT [MONDO:Lexical, OMIM:604185]
synonym: "HCFP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604185]
synonym: "Mobius syndrome 3" RELATED [OMIM:604185]
synonym: "Mobius syndrome 3, formerly" RELATED [OMIM:604185]
synonym: "Moebius syndrome 3" RELATED [OMIM:604185]
synonym: "Moebius syndrome 3, formerly" RELATED [OMIM:604185]
xref: GARD:18436 {source="MONDO:GARD"}
xref: MEDGEN:346971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604185 {source="MONDO:equivalentTo"}
xref: Orphanet:306530 {source="OMIM:604185"}
xref: UMLS:C1858717 {source="MEDGEN:346971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017627 {source="Orphanet:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011408
name: hereditary spastic paraplegia 10
def: "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." [Orphanet:100991]
subset: gard_rare {source="GARD:9590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100991"}
subset: orphanet_rare {source="Orphanet:100991"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia" RELATED [GARD:0009590]
synonym: "autosomal dominant spastic paraplegia 10" EXACT [DOID:0110763]
synonym: "autosomal dominant spastic paraplegia type 10" EXACT [DOID:0110763]
synonym: "hereditary spastic paraplegia caused by mutation in KIF5A" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 10" EXACT [DOID:0110763, MONDORULE:2]
synonym: "KIF5A hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 10" RELATED [GARD:0009590]
synonym: "spastic paraplegia 10 with or without peripheral neuropathy" RELATED [OMIM:604187]
synonym: "spastic paraplegia 10, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604187]
synonym: "SPG10" EXACT ABBREVIATION [DOID:0110763, MONDO:Lexical, OMIM:604187, Orphanet:100991]
xref: DOID:0110763 {source="MONDO:equivalentTo"}
xref: GARD:9590 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:100991/attributed", source="Orphanet:100991/ntbt", source="Orphanet:100991", source="DOID:0110763"}
xref: MEDGEN:349003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537482 {source="Orphanet:100991", source="MONDO:equivalentTo", source="Orphanet:100991/e"}
xref: OMIM:604187 {source="Orphanet:100991", source="MONDO:equivalentTo", source="Orphanet:100991/e", source="DOID:0110763"}
xref: Orphanet:100991 {source="MONDO:equivalentTo", source="OMIM:604187", source="DOID:0110763"}
xref: SCTID:732948003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858712 {source="MEDGEN:349003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110763", source="MESH:C537482", source="MONDO:Redundant", source="OMIM:604187", source="Orphanet:100991/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6323 ! KIF5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6323 {source="MONDO:mim2gene_medgen"} ! KIF5A

[Term]
id: MONDO:0011409
name: hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection
subset: predisposition
synonym: "hepatic fibrosis susceptibility due to schistosoma mansoni infection" EXACT [OMIM:604201, OMIM:genemap2]
synonym: "hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection" RELATED [OMIM:604201]
synonym: "hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection" EXACT [OMIM:604201]
synonym: "Sm2" RELATED [OMIM:604201]
xref: MEDGEN:349002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604201 {source="MONDO:equivalentTo"}
xref: UMLS:C1858709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349002"}
is_a: MONDO:0020573 {source="OMIM:604201", source="https://orcid.org/0000-0002-5002-8648"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0859050 {source="DC-OMIM:604201", source="https://orcid.org/0000-0002-5002-8648"} ! Schistosoma mansoni infection, susceptibility/resistance to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011410
name: Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly
synonym: "Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly" EXACT [OMIM:604211]
xref: MEDGEN:388123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565817 {source="MONDO:equivalentTo"}
xref: OMIM:604211 {source="MONDO:equivalentTo"}
xref: UMLS:C1858696 {source="MEDGEN:388123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011411
name: Chudley-McCullough syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:86", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314597"}
subset: ordo_malformation_syndrome {source="Orphanet:314597"}
subset: orphanet_rare {source="Orphanet:314597"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chudley-McCullough syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604213]
synonym: "CMCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604213]
synonym: "deafness, autosomal recessive 82" RELATED [OMIM:604213]
synonym: "deafness, autosomal recessive 82, formerly" RELATED [OMIM:604213]
synonym: "deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction" RELATED [GARD:0000086]
synonym: "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" RELATED [GARD:0000086, OMIM:604213]
xref: GARD:86 {source="MONDO:GARD"}
xref: MEDGEN:347699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535459 {source="MONDO:equivalentTo"}
xref: OMIM:604213 {source="Orphanet:314597/e", source="MONDO:equivalentTo", source="GARD:0000086", source="Orphanet:314597"}
xref: Orphanet:314597 {source="OMIM:604213", source="MONDO:equivalentTo"}
xref: UMLS:C1858695 {source="MEDGEN:347699", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:314597", source="Orphanet:314597/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29501 {source="MONDO:mim2gene_medgen"} ! GPSM2

[Term]
id: MONDO:0011412
name: familial encephalopathy with neuroserpin inclusion bodies
subset: gard_rare {source="GARD:10037", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1123"}
subset: ordo_disorder {source="Orphanet:85110"}
subset: orphanet_rare {source="Orphanet:85110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy, familial, with Collins bodies" RELATED [OMIM:604218]
synonym: "encephalopathy, familial, with neuroserpin inclusion bodies" RELATED [MONDO:Lexical, OMIM:604218]
synonym: "FENIB" EXACT ABBREVIATION [DOID:0050831, MONDO:Lexical, OMIM:604218, Orphanet:85110]
xref: DOID:0050831 {source="MONDO:equivalentTo"}
xref: GARD:10037 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:85110/attributed", source="Orphanet:85110/ntbt", source="Orphanet:85110"}
xref: ICD9:348.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:346965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536841 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="Orphanet:85110"}
xref: NORD:1123 {source="MONDO:NORD"}
xref: OMIM:604218 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="DOID:0050831", source="Orphanet:85110"}
xref: Orphanet:85110 {source="MONDO:equivalentTo", source="OMIM:604218"}
xref: SCTID:702421006 {source="MONDO:equivalentTo"}
xref: UMLS:C1858680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346965"}
is_a: MONDO:0020074 {source="Orphanet:85110"} ! progressive myoclonus epilepsy
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8943 {source="MONDO:mim2gene_medgen"} ! SERPINI1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies" xsd:anyURI {source="GARD:0010037"}

[Term]
id: MONDO:0011413
name: cataract 9 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15364", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive congenital cataract 1" NARROW [DOID:0110266]
synonym: "cataract (disease) caused by mutation in CRYAA" EXACT []
synonym: "cataract 9 multiple types with or without microcornea" EXACT [DOID:0110266]
synonym: "cataract 9, multiple types" RELATED [MONDO:Lexical, OMIM:604219]
synonym: "cataract 9, multiple types, with or without microcornea" RELATED [OMIM:604219]
synonym: "cataract, autosomal dominant" RELATED [OMIM:604219]
synonym: "cataract, autosomal recessive congenital 1" RELATED [OMIM:604219]
synonym: "CATC1" NARROW ABBREVIATION [DOID:0110266]
synonym: "CRYAA cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT9" EXACT ABBREVIATION [DOID:0110266, MONDO:Lexical, OMIM:604219]
xref: DOID:0110266 {source="MONDO:equivalentTo"}
xref: GARD:15364 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110266"}
xref: MEDGEN:347693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604219 {source="MONDO:equivalentTo", source="DOID:0110266"}
xref: Orphanet:1377 {source="MONDO:relatedTo", source="OMIM:604219"}
xref: Orphanet:91492 {source="MONDO:relatedTo", source="OMIM:604219"}
xref: Orphanet:98991 {source="MONDO:relatedTo", source="OMIM:604219"}
xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:604219"}
xref: UMLS:C1858679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347693"}
is_a: MONDO:0005129 {source="DOID:0110266", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:604219"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2388 ! CRYAA
relationship: excluded_subClassOf MONDO:0011060 {source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0015300 {source="Orphanet:1377/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cataract - microcornea syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2388 {source="MONDO:mim2gene_medgen"} ! CRYAA

[Term]
id: MONDO:0011414
name: Peters anomaly
def: "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." [Orphanet:708]
subset: gard_rare {source="GARD:7377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:708"}
subset: ordo_morphological_anomaly {source="Orphanet:708"}
subset: orphanet_rare {source="Orphanet:708"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior segment dysgenesis 5" RELATED [OMIM:604229]
synonym: "anterior segment dysgenesis 5, multiple subtypes" EXACT [OMIM:604229, OMIM:genemap2]
synonym: "ASGD5" RELATED ABBREVIATION [OMIM:604229]
synonym: "Peters anomaly" EXACT [MONDO:ambiguous, OMIM:604229]
synonym: "Peters anomaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Peters congenital glaucoma" EXACT [Orphanet:708]
xref: DOID:0060673 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0080610 {source="MONDO:equivalentTo"}
xref: GARD:7377 {source="MONDO:GARD"}
xref: HP:0000659 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q13.4 {source="DOID:0060673", source="Orphanet:708/inclusion", source="Orphanet:708", source="Orphanet:708/ntbt"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10059202 {source="Orphanet:708/e", source="Orphanet:708"}
xref: MEDGEN:91031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537884 {source="Orphanet:708/e", source="DOID:0060673", source="MONDO:equivalentTo", source="Orphanet:708"}
xref: OMIM:604229 {source="Orphanet:708/e", source="DOID:0060673", source="MONDO:equivalentTo", source="Orphanet:708"}
xref: Orphanet:708 {source="DOID:0060673", source="MONDO:equivalentTo", source="OMIM:604229"}
xref: SCTID:204153003 {source="MONDO:equivalentTo"}
xref: UMLS:C0344559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91031"}
is_a: MONDO:0000942 {source="DOID:0060673", source="MESH:C537884/inferred"} ! corneal disorder
is_a: MONDO:0019503 {source="DC-OMIM:604229", source="OMIM:604229"} ! anterior segment dysgenesis
relationship: excluded_subClassOf MONDO:0020220 {source="Orphanet:708", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete corneoiridogoniodysgenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000589 "Peters anomaly (disease)" xsd:string

[Term]
id: MONDO:0011415
name: Leber congenital amaurosis 3
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 3" RELATED [GARD:0009661]
synonym: "LCA3" EXACT ABBREVIATION [DOID:0110331, MONDO:Lexical, OMIM:604232]
synonym: "Leber congenital amaurosis 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604232]
synonym: "Leber congenital amaurosis caused by mutation in SPATA7" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 3" EXACT [DOID:0110331, MONDORULE:1, OMIM:604232]
synonym: "retinitis pigmentosa, juvenile, autosomal recessive" EXACT [OMIM:604232, OMIM:genemap2]
synonym: "retinitis pigmentosa, juvenile, Spata7-related" RELATED [OMIM:604232]
synonym: "SPATA7 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110331 {source="MONDO:equivalentTo"}
xref: GARD:9661 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110331"}
xref: MEDGEN:346964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565814 {source="MONDO:equivalentTo"}
xref: OMIM:604232 {source="MONDO:equivalentTo", source="DOID:0110331"}
xref: UMLS:C1858677 {source="MEDGEN:346964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:604232", source="DOID:0110331", source="MESH:C565814", source="MONDO:Redundant", source="OMIM:604232"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20423 ! SPATA7
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20423 {source="MONDO:mim2gene_medgen"} ! SPATA7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9661/leber-congenital-amaurosis-3" xsd:anyURI {source="GARD:0009661"}

[Term]
id: MONDO:0011416
name: generalized epilepsy with febrile seizures plus, type 1
subset: gard_rare {source="GARD:18659", source="MONDO:GARD"}
subset: rare
synonym: "Gefs+, type 1" RELATED [OMIM:604233]
synonym: "GEFSP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604233]
synonym: "generalized epilepsy with febrile seizures plus, type 1" EXACT [MONDO:Lexical, OMIM:604233]
xref: DOID:0111302 {source="MONDO:equivalentTo"}
xref: GARD:18659 {source="MONDO:GARD"}
xref: MEDGEN:348994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565809 {source="MONDO:equivalentTo"}
xref: OMIM:604233 {source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="OMIM:604233"}
xref: UMLS:C1858672 {source="MEDGEN:348994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018214 {source="DC-OMIM:604233", source="OMIM:604233"} ! generalized epilepsy with febrile seizures plus

[Term]
id: MONDO:0011417
name: hemochromatosis type 3
def: "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:225123]
subset: gard_rare {source="GARD:10093", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:225123"}
subset: orphanet_rare {source="Orphanet:225123"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemochromatosis due to defect in transferrin receptor 2" EXACT [DOID:0111030, OMIM:604250]
synonym: "hemochromatosis type 3" EXACT CLINGEN_LABEL []
synonym: "hemochromatosis, type 3" RELATED [MONDO:Lexical, OMIM:604250]
synonym: "hereditary hemochromatosis caused by mutation in TFR2" EXACT [MONDO:design_pattern]
synonym: "HFE3" EXACT ABBREVIATION [DOID:0111030, MONDO:Lexical, OMIM:604250]
synonym: "TFR2 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TFR2-related hemochromatosis" EXACT [DOID:0111030, Orphanet:225123]
xref: DOID:0111030 {source="MONDO:equivalentTo"}
xref: GARD:10093 {source="MONDO:GARD"}
xref: ICD10CM:E83.1 {source="DOID:0111030", source="Orphanet:225123/attributed", source="Orphanet:225123/ntbt", source="Orphanet:225123"}
xref: MEDGEN:388114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537248 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123"}
xref: OMIM:604250 {source="Orphanet:225123/e", source="DOID:0111030", source="MONDO:equivalentTo", source="Orphanet:225123"}
xref: Orphanet:225123 {source="DOID:0111030", source="MONDO:equivalentTo", source="OMIM:604250"}
xref: SCTID:719974003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858664 {source="MONDO:equivalentTo", source="MEDGEN:388114", source="MONDO:MEDGEN"}
is_a: MONDO:0006507 {source="DOID:0111030", source="MESH:C537248", source="MONDO:Redundant", source="OMIM:604250", source="Orphanet:225123"} ! hereditary hemochromatosis
intersection_of: MONDO:0006507 ! hereditary hemochromatosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11762 ! TFR2
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11762 {source="MONDO:mim2gene_medgen"} ! TFR2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3" xsd:anyURI {source="GARD:0010093"}

[Term]
id: MONDO:0011418
name: dyslexia, susceptibility to, 3
subset: predisposition
synonym: "dyslexia, susceptibility to, 3" EXACT [OMIM:604254]
synonym: "DYX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604254]
xref: MEDGEN:388113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604254 {source="MONDO:equivalentTo"}
xref: UMLS:C1858662 {source="MEDGEN:388113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005489 {source="DC-OMIM:604254", source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia
relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0002-4142-7153"} ! dyslexia

[Term]
id: MONDO:0011419
name: camera-Marugo-Cohen syndrome
synonym: "camera Marugo Cohen syndrome" RELATED [GARD:0008413]
synonym: "camera-Marugo-Cohen syndrome" EXACT [OMIM:604257]
synonym: "obesity, intellectual disability, body asymmetry, and muscle weakness" RELATED [GARD:0008413]
synonym: "obesity, mental retardation, body asymmetry, and muscle weakness" RELATED DEPRECATED [GARD:0008413]
xref: MEDGEN:347689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537964 {source="MONDO:equivalentTo"}
xref: OMIM:604257 {source="MONDO:equivalentTo"}
xref: UMLS:C1858661 {source="MONDO:equivalentTo", source="MEDGEN:347689", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome" xsd:anyURI {source="GARD:0008413"}

[Term]
id: MONDO:0011420
name: short stature due to partial GHR deficiency
def: "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." [Orphanet:314802]
subset: gard_rare {source="GARD:17435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314802"}
subset: orphanet_rare {source="Orphanet:314802"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GHIP" RELATED ABBREVIATION [MESH:C565805, MONDO:Lexical, OMIM:604271]
synonym: "Growth hormone deficiency, isolated, partial" RELATED [MESH:C565805]
synonym: "growth hormone insensitivity, partial" RELATED [MESH:C565805, MONDO:Lexical, OMIM:604271]
synonym: "Growth hormone, insensitivity to, partial" RELATED [MESH:C565805]
synonym: "increased responsiveness to Growth hormone" RELATED [OMIM:604271]
synonym: "short stature due to partial growth hormone receptor deficiency" EXACT [Orphanet:314802]
xref: GARD:17435 {source="MONDO:GARD"}
xref: ICD10CM:E34.3 {source="Orphanet:314802", source="Orphanet:314802/attributed", source="Orphanet:314802/ntbt"}
xref: MEDGEN:346958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565805 {source="MONDO:equivalentTo"}
xref: OMIM:604271 {source="MEDIC:C565805", source="MONDO:equivalentTo", source="Orphanet:314802", source="Orphanet:314802/e"}
xref: Orphanet:314802 {source="MONDO:equivalentTo", source="OMIM:604271"}
xref: UMLS:C1858656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346958"}
is_a: MONDO:0006909 {source="MESH:C565805"} ! pituitary dwarfism
is_a: MONDO:0015892 {source="Orphanet:314802"} ! growth hormone insensitivity syndrome

[Term]
id: MONDO:0011421
name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
def: "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18660", source="MONDO:GARD"}
subset: prototype_pattern
subset: rare
synonym: "ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Complex 5 mitochondrial respiratory chain deficiency" RELATED [GARD:0001459]
synonym: "MC5DN1" EXACT ABBREVIATION [DOID:0050768, MONDO:Lexical, OMIM:604273]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type" RELATED [OMIM:604273]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1" RELATED [OMIM:604273]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604273]
synonym: "mitochondrial complex V deficiency" BROAD [GARD:0001459]
synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2" EXACT [MONDO:design_pattern]
xref: DOID:0050768 {source="MONDO:equivalentTo"}
xref: GARD:18660 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="DOID:0050768"}
xref: MEDGEN:477906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604273 {source="MONDO:equivalentTo", source="DOID:0050768"}
xref: Orphanet:254913 {source="DOID:0050768", source="OMIM:604273"}
xref: UMLS:C3276276 {source="MEDGEN:477906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 {source="DC-OMIM:604273"} ! mitochondrial complex deficiency
is_a: MONDO:0014471 {source="DOID:0050768", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency
intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18802 ! ATPAF2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18802 {source="MONDO:mim2gene_medgen"} ! ATPAF2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency" xsd:anyURI {source="GARD:0001459"}

[Term]
id: MONDO:0011422
name: autosomal recessive proximal renal tubular acidosis
def: "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." [Orphanet:93607]
subset: gard_rare {source="GARD:16826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93607"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR pRTA" EXACT [Orphanet:93607]
synonym: "proximal renal tubular acidosis with ocular abnormalities and intellectual disability" EXACT [Orphanet:93607]
synonym: "proximal renal tubular acidosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "renal tubular acidosis, proximal, with ocular abnormalities" EXACT [OMIM:604278, OMIM:genemap2]
synonym: "renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability" RELATED [OMIM:604278]
synonym: "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" RELATED DEPRECATED [OMIM:604278]
synonym: "RTA, proximal, autosomal recessive" RELATED [OMIM:604278]
xref: GARD:16826 {source="MONDO:GARD"}
xref: MEDGEN:370883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567038 {source="MONDO:equivalentTo"}
xref: OMIM:604278 {source="Orphanet:93607/e", source="MONDO:equivalentTo", source="Orphanet:93607"}
xref: Orphanet:47159 {source="OMIM:604278"}
xref: Orphanet:93607 {source="OMIM:604278", source="MONDO:equivalentTo"}
xref: UMLS:C1970309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370883"}
is_a: MONDO:0008369 {source="MONDO:Redundant", source="Orphanet:93607"} ! proximal renal tubular acidosis
intersection_of: MONDO:0008369 ! proximal renal tubular acidosis
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11030 {source="MONDO:mim2gene_medgen"} ! SLC4A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011423
name: autosomal recessive limb-girdle muscular dystrophy type 2E
def: "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." [Orphanet:119]
subset: gard_rare {source="GARD:3851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:119"}
subset: orphanet_rare {source="Orphanet:119"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy type 2E" EXACT [Orphanet:119]
synonym: "beta-sarcoglycan limb-girdle muscular dystrophy" RELATED [GARD:0003851]
synonym: "beta-sarcoglycan-related LGMD R4" EXACT [Orphanet:119]
synonym: "beta-sarcoglycan-related limb-girdle muscular dystrophy R4" EXACT [Orphanet:119]
synonym: "beta-sarcoglycanopathy" BROAD [DOID:0110279, Orphanet:119]
synonym: "LGMD due to beta-sarcoglycan deficiency" EXACT [Orphanet:119]
synonym: "LGMD type 2E" EXACT [Orphanet:119]
synonym: "LGMD2E" EXACT ABBREVIATION [DOID:0110279, MONDO:Lexical, OMIM:604286, Orphanet:119]
synonym: "LGMDR4" EXACT ABBREVIATION [OMIM:604286]
synonym: "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" EXACT [DOID:0110279, Orphanet:119]
synonym: "limb-girdle muscular dystrophy type 2E" EXACT [GARD:0003851, Orphanet:119]
synonym: "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency" RELATED [GARD:0003851]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 4" EXACT [OMIM:604286, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [DOID:0110279, MONDO:Lexical, OMIM:604286]
synonym: "SGCB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110279 {source="MONDO:equivalentTo"}
xref: GARD:3851 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:119/ntbt", source="Orphanet:119/inclusion", source="Orphanet:119", source="DOID:0110279"}
xref: MEDGEN:347674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604286 {source="Orphanet:119", source="MONDO:equivalentTo", source="Orphanet:119/e", source="DOID:0110279"}
xref: Orphanet:119 {source="MONDO:equivalentTo", source="OMIM:604286", source="DOID:0110279"}
xref: SCTID:718850008 {source="MONDO:equivalentTo"}
xref: UMLS:C1858593 {source="MEDGEN:347674", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="DOID:0110279", source="MONDO:Redundant", source="OMIM:604286", source="Orphanet:119"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016142 {source="Orphanet:119"} ! qualitative or quantitative defects of beta-sarcoglycan
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0019056 ! neuromuscular disease
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10806 ! SGCB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10806 {source="MONDO:mim2gene_medgen"} ! SGCB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011424
name: Carney triad
def: "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." [Orphanet:139411]
subset: gard_rare {source="GARD:10924", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139411"}
subset: orphanet_rare {source="Orphanet:139411"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carney triad" EXACT [OMIM:604287]
synonym: "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" RELATED [OMIM:604287]
xref: GARD:10924 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="Orphanet:139411/attributed", source="Orphanet:139411/ntbt", source="Orphanet:139411"}
xref: MEDGEN:388099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565803 {source="MONDO:equivalentTo"}
xref: NCIT:C94833 {source="MONDO:equivalentTo"}
xref: OMIM:604287 {source="Orphanet:139411/e", source="MONDO:equivalentTo", source="Orphanet:139411"}
xref: Orphanet:139411 {source="MONDO:equivalentTo", source="OMIM:604287"}
xref: SCTID:733492003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858592 {source="MEDGEN:388099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015079 {source="Orphanet:139411"} ! multiple polyglandular tumor
is_a: MONDO:0021058 {source="NCIT:C94833"} ! neoplastic syndrome
relationship: disease_has_feature MONDO:0000550 ! extra-adrenal sympathetic paraganglioma
relationship: disease_has_feature MONDO:0011719 ! gastrointestinal stromal tumor
relationship: disease_has_feature MONDO:0021117 ! lung neoplasm
relationship: has_characteristic MONDO:0021141 ! acquired
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10924/carney-triad" xsd:anyURI {source="GARD:0010924"}

[Term]
id: MONDO:0011425
name: dilated cardiomyopathy 1H
def: "A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22." [DOID:0110429, PMID:10486326]
subset: gard_rare {source="GARD:15365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1H" RELATED [MONDO:Lexical, OMIM:604288]
synonym: "cardiomyopathy, dilated, with conduction defect" RELATED [OMIM:604288]
synonym: "CMD1H" EXACT ABBREVIATION [DOID:0110429, MONDO:Lexical, OMIM:604288]
synonym: "dilated cardiomyopathy type 1H" EXACT [DOID:0110429, MONDORULE:4]
synonym: "dilated cardiomyopathy with conduction defect" EXACT [DOID:0110429]
xref: DOID:0110429 {source="MONDO:equivalentTo"}
xref: GARD:15365 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110429"}
xref: MEDGEN:348980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536277 {source="MONDO:equivalentTo"}
xref: OMIM:604288 {source="MONDO:equivalentTo", source="DOID:0110429"}
xref: UMLS:C1858591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348980"}
is_a: MONDO:0005021 {source="DOID:0110429", source="MESH:C536277", source="MONDO:Redundant", source="MONDO:indirect"} ! dilated cardiomyopathy
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:604288"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0011426
name: aceruloplasminemia
def: "An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." [https://orcid.org/0000-0001-5208-3432, Orphanet:48818]
subset: gard_rare {source="GARD:9499", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:707"}
subset: ordo_disorder {source="Orphanet:48818"}
subset: orphanet_rare {source="Orphanet:48818"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aceruloplasminemia" EXACT CLINGEN_LABEL [OMIM:604290]
synonym: "cerebellar ataxia" BROAD [OMIM:604290, OMIM:genemap2]
synonym: "ceruloplasmin deficiency" RELATED [OMIM:604290]
synonym: "familial apoceruloplasmin deficiency" RELATED [GARD:0009499]
synonym: "hemosiderosis, systemic, due to aceruloplasminemia" RELATED [OMIM:604290]
synonym: "hereditary ceruloplasmin deficiency" EXACT [Orphanet:48818]
synonym: "hypoceruloplasminemia" RELATED [OMIM:604290]
synonym: "hypoceruloplasminemia, hereditary" EXACT [OMIM:604290, OMIM:genemap2]
synonym: "systemic hemosiderosis due to aceruloplasminemia" RELATED [GARD:0009499]
xref: DOID:0050711 {source="MONDO:equivalentTo"}
xref: GARD:9499 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:48818", source="Orphanet:48818/attributed", source="Orphanet:48818/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:168057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536004 {source="Orphanet:48818", source="Orphanet:48818/e"}
xref: NANDO:1200540 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200582 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:707 {source="MONDO:NORD"}
xref: OMIM:604290 {source="DOID:0050711", source="MONDO:equivalentTo", source="Orphanet:48818", source="Orphanet:48818/e"}
xref: Orphanet:48818 {source="MONDO:equivalentTo", source="OMIM:604290"}
xref: SCTID:124224004 {source="MONDO:equivalentTo"}
xref: UMLS:C0878682 {source="MEDGEN:168057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002279 {source="DOID:0050711", source="MONDO:Redundant", source="MONDO:indirect"} ! iron metabolism disease
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0017763 {source="Orphanet:48818"} ! disorder of iron metabolism and transport
is_a: MONDO:0018307 {source="Orphanet:48818"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:48818"} ! inherited retinal dystrophy
relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis
relationship: disease_has_feature HP:0002344 ! Progressive neurologic deterioration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2295 {source="MONDO:mim2gene_medgen"} ! CP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia" xsd:anyURI {source="GARD:0009499"}

[Term]
id: MONDO:0011427
name: Ascaris lumbricoides infection, susceptibility to
subset: predisposition
synonym: "ascariasis, susceptibility to" RELATED [OMIM:604291]
synonym: "Ascaris lumbricoides infection, susceptibility to" EXACT [OMIM:604291]
xref: MEDGEN:347671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604291 {source="MONDO:equivalentTo"}
xref: UMLS:C1858580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347671"}
is_a: MONDO:0020573 {source="OMIM:604291", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005654 {source="OMIM:604291"} ! ascariasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011428
name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
def: "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3" EXACT [DOID:0060783, MONDORULE:1]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3" RELATED [MONDO:Lexical, OMIM:604292]
synonym: "ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3" EXACT [MONDORULE:1, OMIM:604292]
synonym: "EEC syndrome 3" EXACT [DOID:0060783, OMIM:604292]
synonym: "EEC syndrome caused by mutation in TP63" EXACT [MONDO:design_pattern]
synonym: "EEC3" EXACT ABBREVIATION [DOID:0060783, MONDO:Lexical, OMIM:604292]
synonym: "TP63 EEC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060783 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q82.4 {source="DOID:0060783"}
xref: MEDGEN:347666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565799 {source="MONDO:equivalentTo"}
xref: OMIM:604292 {source="DOID:0060783", source="MONDO:equivalentTo"}
xref: Orphanet:1896 {source="DOID:0060783", source="OMIM:604292"}
xref: UMLS:C1858562 {source="MEDGEN:347666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010004 {source="DC-OMIM:604292", source="DOID:0060783", source="MONDO:Redundant"} ! EEC syndrome
intersection_of: MONDO:0010004 ! EEC syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 ! TP63
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:604292"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011429
name: juvenile idiopathic arthritis
def: "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." [Orphanet:92]
subset: disease_grouping
subset: gard_rare {source="GARD:18677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:808"}
subset: ordo_group_of_disorders {source="Orphanet:92"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute juvenile rheumatoid arthritis" NARROW [DOID:676]
synonym: "Arthritis, Juvenile Rheumatoid" EXACT [NORD:808]
synonym: "JIA" EXACT ABBREVIATION [NCIT:C114357]
synonym: "juvenile chronic arthritis" RELATED [Orphanet:92]
synonym: "juvenile chronic polyarthritis" RELATED [DOID:676]
synonym: "Juvenile idiopathic arthritis" EXACT [NCIT:C114357]
synonym: "juvenile idiopathic arthritis" EXACT [DOID:676]
synonym: "juvenile rheumatoid arthritis" EXACT DEPRECATED [Orphanet:92]
synonym: "monarticular juvenile rheumatoid arthritis" NARROW [DOID:676]
synonym: "pauciarticular juvenile arthritis" NARROW [DOID:676]
synonym: "pauciarticular onset juvenile chronic arthritis" NARROW [DOID:676]
synonym: "rheumatoid arthritis, systemic juvenile" RELATED [OMIM:604302]
synonym: "rheumatoid arthritis, systemic juvenile, susceptibility to" EXACT [OMIM:604302, OMIM:genemap2]
synonym: "systemic juvenile rheumatoid arthritis" NARROW [DOID:676, OMIM:604302]
xref: DOID:676 {source="MONDO:equivalentTo"}
xref: EFO:0002609 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18677 {source="MONDO:GARD"}
xref: ICD10CM:M08.0 {source="Orphanet:92", source="Orphanet:92/btnt"}
xref: ICD10CM:M08.1 {source="Orphanet:92", source="Orphanet:92/btnt"}
xref: ICD10CM:M08.2 {source="Orphanet:92", source="Orphanet:92/btnt"}
xref: ICD10CM:M08.3 {source="Orphanet:92", source="Orphanet:92/btnt"}
xref: ICD10CM:M08.4 {source="DOID:676", source="MONDO:relatedTo", source="Orphanet:92", source="Orphanet:92/btnt"}
xref: ICD10CM:M08.40 {source="DOID:676"}
xref: ICD10CM:M08.8 {source="Orphanet:92", source="Orphanet:92/btnt"}
xref: ICD10CM:M08.9 {source="Orphanet:92", source="Orphanet:92/btnt"}
xref: icd11.foundation:1322678686 {source="MONDO:equivalentTo", source="Orphanet:92"}
xref: ICD9:714.3 {source="DOID:676"}
xref: ICD9:714.31 {source="DOID:676"}
xref: ICD9:714.32 {source="DOID:676", source="MONDO:relatedTo"}
xref: ICD9:714.33 {source="DOID:676"}
xref: MedDRA:10059177 {source="Orphanet:92/e", source="Orphanet:92"}
xref: MEDGEN:760659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001171 {source="Orphanet:92/e", source="DOID:676", source="MONDO:equivalentTo", source="Orphanet:92"}
xref: NANDO:1200469 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200415 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C114357 {source="MONDO:equivalentTo"}
xref: NCIT:C26979 {source="DOID:676", source="MONDO:relatedTo"}
xref: NCIT:C61279 {source="DOID:676"}
xref: NORD:808 {source="MONDO:NORD"}
xref: OMIM:604302 {source="DOID:676", source="MONDO:equivalentTo"}
xref: Orphanet:85414 {source="OMIM:604302"}
xref: Orphanet:92 {source="DOID:676", source="MONDO:equivalentTo"}
xref: SCTID:201798003 {source="DOID:676"}
xref: SCTID:201799006 {source="DOID:676"}
xref: SCTID:201803007 {source="DOID:676"}
xref: SCTID:201809006 {source="DOID:676"}
xref: SCTID:410502007 {source="MONDO:equivalentTo"}
xref: SCTID:74391003 {source="DOID:676", source="MONDO:relatedTo"}
xref: SCTID:7441009 {source="DOID:676"}
xref: SCTID:75822003 {source="DOID:676"}
xref: SCTID:83793004 {source="DOID:676"}
xref: UMLS:C3495559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760659"}
is_a: MONDO:0005554 {source="Orphanet:92"} ! rheumatic disorder
is_a: MONDO:0005578 {source="DOID:676/inferred", source="MESH:D001171", source="NCIT:C114357"} ! arthritic joint disease
relationship: excluded_subClassOf MONDO:0017021 {source="Orphanet:92", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011430
name: pulverulent cataract
def: "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33." [Orphanet:98984]
subset: gard_rare {source="GARD:16884", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98984"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Coppock-like cataract" EXACT [Orphanet:98984]
synonym: "dusty cataract" EXACT [Orphanet:98984]
synonym: "pulverulent cataract" EXACT [Orphanet:98984]
xref: GARD:16884 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98984/attributed", source="Orphanet:98984/ntbt", source="Orphanet:98984", source="DOID:0110235"}
xref: MEDGEN:318793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565133 {source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:604307"}
xref: Orphanet:98984 {source="MONDO:equivalentTo", source="OMIM:604307"}
xref: Orphanet:98986 {source="MONDO:equivalentObsolete", source="OMIM:604307"}
xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:604307"}
xref: UMLS:C1833118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318793"}
is_a: MONDO:0011060 {source="Orphanet:91492/btnt", source="Orphanet:98984", source="Orphanet:98984/inferred"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0005129 {source="DOID:0110235", source="MESH:C565133", source="https://orcid.org/0000-0001-5208-3432"} ! cataract
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2410 {source="MONDO:mim2gene_medgen"} ! CRYGC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3904" xsd:anyURI

[Term]
id: MONDO:0011431
name: MASS syndrome
def: "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome]
subset: gard_rare {source="GARD:8489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MASS phenotype" EXACT [OMIM:604308]
synonym: "MASS syndrome" EXACT [OMIM:604308]
synonym: "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings" RELATED [GARD:0008489]
synonym: "OCTD" RELATED ABBREVIATION [GARD:0008489]
synonym: "overlap connective tissue disease" RELATED [OMIM:604308]
xref: GARD:8489 {source="MONDO:GARD"}
xref: MEDGEN:346932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536030 {source="MONDO:equivalentTo"}
xref: OMIM:604308 {source="MONDO:equivalentTo"}
xref: Orphanet:99715 {source="MONDO:equivalentObsolete", source="OMIM:604308"}
xref: UMLS:C1858556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346932"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016663 ! overlapping connective tissue disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome" xsd:anyURI {source="GARD:0008489"}

[Term]
id: MONDO:0011432
name: blepharophimosis - intellectual disability syndrome, Verloes type
subset: gard_rare {source="GARD:17342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293725"}
subset: ordo_malformation_syndrome {source="Orphanet:293725"}
subset: orphanet_rare {source="Orphanet:293725"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis with facial and genital anomalies and intellectual disability" RELATED [OMIM:604314]
synonym: "blepharophimosis with facial and genital anomalies and mental retardation" RELATED DEPRECATED [OMIM:604314]
synonym: "blepharophimosis-intellectual disability syndrome type V" EXACT [Orphanet:293725]
synonym: "blepharophimosis-intellectual disability syndrome, Verloes type" RELATED [OMIM:604314]
synonym: "blepharophimosis-mental retardation syndrome, Verloes type" RELATED DEPRECATED [OMIM:604314]
synonym: "BMRS type V" EXACT [Orphanet:293725]
synonym: "BMRS, Verloes type" EXACT [Orphanet:293725]
xref: GARD:17342 {source="MONDO:GARD"}
xref: MEDGEN:347661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565797 {source="MONDO:equivalentTo"}
xref: OMIM:604314 {source="Orphanet:293725", source="MONDO:equivalentTo", source="Orphanet:293725/e"}
xref: Orphanet:293725 {source="OMIM:604314", source="MONDO:equivalentTo"}
xref: UMLS:C1858538 {source="MEDGEN:347661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017393 {source="Orphanet:293725"} ! blepharophimosis - intellectual disability syndrome

[Term]
id: MONDO:0011433
name: anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome
synonym: "anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome" EXACT [OMIM:604315]
synonym: "anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome" EXACT DEPRECATED [OMIM:604315]
xref: MEDGEN:388087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565796 {source="MONDO:equivalentTo"}
xref: OMIM:604315 {source="MONDO:equivalentTo"}
xref: UMLS:C1858537 {source="MEDGEN:388087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011434
name: psoriasis 5, susceptibility to
synonym: "psoriasis 5, susceptibility to" EXACT [MONDO:Lexical, OMIM:604316]
synonym: "psoriasis susceptibility 5" EXACT [OMIM:604316, OMIM:genemap2]
synonym: "PSORS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604316]
xref: DOID:0111282 {source="MONDO:equivalentTo"}
xref: MEDGEN:347660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604316 {source="MONDO:equivalentTo"}
xref: UMLS:C1858536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347660"}
is_a: MONDO:0100171 {source="OMIM:604316"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:604316", source="OMIM:604316"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011435
name: microcephaly 2, primary, autosomal recessive, with or without cortical malformations
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604317]
synonym: "microcephaly 2, primary, autosomal recessive, with or without cortical malformations" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604317]
xref: DOID:0070293 {source="MONDO:equivalentTo"}
xref: GARD:15366 {source="MONDO:GARD"}
xref: MEDGEN:346929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565794 {source="MONDO:equivalentTo"}
xref: OMIM:604317 {source="MONDO:equivalentTo"}
xref: UMLS:C1858535 {source="MEDGEN:346929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="DC-OMIM:604317", source="OMIM:604317"} ! autosomal recessive primary microcephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24502 {source="MONDO:mim2gene_medgen"} ! WDR62

[Term]
id: MONDO:0011436
name: autosomal recessive distal spinal muscular atrophy 1
def: "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." [Orphanet:98920]
subset: gard_rare {source="GARD:8592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1994"}
subset: ordo_disorder {source="Orphanet:98920"}
subset: orphanet_rare {source="Orphanet:98920"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive distal spinal muscular atrophy type 1" EXACT [DOID:0111064, MONDORULE:1, Orphanet:98920]
synonym: "autosomal recessive spinal muscular atrophy with respiratory distress" EXACT [DOID:0111064, Orphanet:98920]
synonym: "dHMN6" EXACT [DOID:0111064, Orphanet:98920]
synonym: "diaphragmatic spinal muscular atrophy" EXACT [DOID:0111064, Orphanet:98920]
synonym: "distal hereditary motor neuropathy type 6" EXACT [DOID:0111064, Orphanet:98920]
synonym: "distal-HMN type 6" EXACT [DOID:0111064, Orphanet:98920]
synonym: "DSMA1" EXACT ABBREVIATION [DOID:0111064, MONDO:Lexical, OMIM:604320]
synonym: "dSMA1" EXACT [Orphanet:98920]
synonym: "HMN 6" RELATED [OMIM:604320]
synonym: "HMN VI" RELATED [GARD:0008592]
synonym: "Hmn6" RELATED [OMIM:604320]
synonym: "IGHMBP2 spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronopathy, distal hereditary motor, type 6" RELATED [OMIM:604320]
synonym: "neuronopathy, distal hereditary motor, type VI" RELATED [GARD:0008592]
synonym: "neuronopathy, Severe infantile axonal, with respiratory failure" RELATED [OMIM:604320]
synonym: "severe infantile axonal neuropathy with respiratory failure" RELATED [OMIM:604320]
synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT [DOID:0111064, Orphanet:98920]
synonym: "SIANRF" EXACT ABBREVIATION [DOID:0111064, Orphanet:98920]
synonym: "SMARD1" EXACT ABBREVIATION [DOID:0111064, Orphanet:98920]
synonym: "spinal muscular atrophy caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern]
synonym: "Spinal Muscular Atrophy with Respiratory Distress" EXACT [NORD:1994]
synonym: "spinal muscular atrophy with respiratory distress 1" RELATED [OMIM:604320]
synonym: "spinal muscular atrophy with respiratory distress type 1" EXACT [DOID:0111064]
synonym: "spinal muscular atrophy, diaphragmatic" RELATED [OMIM:604320]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:604320]
synonym: "spinal muscular atrophy, distal, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:604320]
xref: DOID:0111064 {source="MONDO:equivalentTo"}
xref: GARD:8592 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:98920/attributed", source="Orphanet:98920/ntbt", source="Orphanet:98920", source="DOID:0111064"}
xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:388083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536880 {source="MONDO:equivalentTo"}
xref: NORD:1994 {source="MONDO:NORD"}
xref: OMIM:604320 {source="Orphanet:98920", source="MONDO:equivalentTo", source="DOID:0111064", source="Orphanet:98920/e"}
xref: Orphanet:98920 {source="MONDO:equivalentTo", source="DOID:0111064", source="OMIM:604320"}
xref: SCTID:711483003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388083"}
is_a: MONDO:0001516 {source="DC-OMIM:604320", source="DOID:0111064", source="MESH:C536880", source="MONDO:Redundant"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="Orphanet:98920"} ! neuronopathy, distal hereditary motor, autosomal recessive
intersection_of: MONDO:0001516 ! spinal muscular atrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 ! IGHMBP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 {source="MONDO:mim2gene_medgen"} ! IGHMBP2

[Term]
id: MONDO:0011437
name: microcephaly 4, primary, autosomal recessive
subset: gard_rare {source="GARD:15367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604321]
synonym: "microcephaly 4, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:604321]
xref: DOID:0070291 {source="MONDO:equivalentTo"}
xref: GARD:15367 {source="MONDO:GARD"}
xref: MEDGEN:347655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565792 {source="MONDO:equivalentTo"}
xref: OMIM:604321 {source="MONDO:equivalentTo"}
xref: UMLS:C1858516 {source="MEDGEN:347655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="DC-OMIM:604321", source="OMIM:604321"} ! autosomal recessive primary microcephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24054 {source="MONDO:mim2gene_medgen"} ! KNL1

[Term]
id: MONDO:0011438
name: acne
def: "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acne" EXACT [MONDO:ambiguous]
synonym: "acne (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "acne varioliformis" EXACT [DOID:6543, ICD9CM:706.0]
synonym: "acne vulgaris" EXACT [DOID:6543]
synonym: "acne, adult" NARROW [OMIM:604324]
synonym: "frontalis acne" EXACT [DOID:6543]
xref: DOID:6543 {source="EFO:0003894", source="MONDO:equivalentTo"}
xref: EFO:0003894 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0001061 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L70 {source="DOID:6543"}
xref: ICD10CM:L70.2 {source="DOID:6543"}
xref: ICD10CM:L70.9 {source="DOID:6543"}
xref: ICD9:706.0 {source="DOID:6543"}
xref: MEDGEN:152379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000152 {source="EFO:0003894"}
xref: MTH:217 {source="DOID:6543"}
xref: NCIT:C27195 {source="DOID:6543", source="EFO:0003894", source="MONDO:equivalentTo"}
xref: SCTID:11381005 {source="DOID:6543", source="EFO:0003894"}
xref: SCTID:201210008 {source="DOID:6543"}
xref: SCTID:201211007 {source="DOID:6543"}
xref: SCTID:201212000 {source="DOID:6543"}
xref: SCTID:201229002 {source="DOID:6543"}
xref: SCTID:201408008 {source="DOID:6543"}
xref: SCTID:23894009 {source="DOID:6543"}
xref: SCTID:267815009 {source="DOID:6543"}
xref: UMLS:C0702166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152379"}
is_a: MONDO:0002406 {source="EFO:0003894", source="NCIT:C27195"} ! dermatitis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0006607 {source="DOID:6543"} ! sebaceous gland disorder
property_value: IAO:0000589 "acne (disease)" xsd:string

[Term]
id: MONDO:0011439
name: spinocerebellar ataxia type 12
def: "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." [Orphanet:98762]
subset: gard_rare {source="GARD:10476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98762"}
subset: orphanet_rare {source="Orphanet:98762"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604326, Orphanet:98762]
synonym: "spinocerebellar ataxia 12" RELATED [MONDO:Lexical, OMIM:604326]
synonym: "spinocerebellar ataxia type 12" EXACT [MONDORULE:2, OMIM:604326]
xref: DOID:0050962 {source="MONDO:equivalentTo"}
xref: GARD:10476 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98762", source="Orphanet:98762/attributed", source="Orphanet:98762/ntbt"}
xref: MEDGEN:347653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565790 {source="MONDO:equivalentTo"}
xref: NCIT:C154316 {source="MONDO:equivalentTo"}
xref: OMIM:604326 {source="Orphanet:98762", source="DOID:0050962", source="MONDO:equivalentTo", source="Orphanet:98762/e"}
xref: Orphanet:98762 {source="OMIM:604326", source="MONDO:equivalentTo"}
xref: SCTID:719208005 {source="MONDO:equivalentTo"}
xref: UMLS:C1858501 {source="MEDGEN:347653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:98762"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9305 {source="MONDO:mim2gene_medgen"} ! PPP2R2B

[Term]
id: MONDO:0011440
name: hypertension, essential, susceptibility to, 2
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 2" EXACT [OMIM:604329]
synonym: "hypertension, essential, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:604329]
synonym: "Hyt2" RELATED [OMIM:604329]
xref: MEDGEN:388076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604329 {source="MONDO:equivalentTo"}
xref: UMLS:C1858497 {source="MEDGEN:388076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:604329", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0001134 {source="OMIM:604329", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
relationship: excluded_subClassOf MONDO:0007781 {source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension, genetic
relationship: predisposes_towards MONDO:0007781 {source="OMIM:604329"} ! essential hypertension, genetic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011441
name: complex regional pain syndrome type 1
def: "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." [Orphanet:99995]
subset: gard_rare {source="GARD:16928", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99995"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Algodystrophy" EXACT [Orphanet:99995]
synonym: "Complex regional pain syndrome I" EXACT [NCIT:C85042]
synonym: "complex regional pain syndrome type 1" EXACT [Orphanet:99995]
synonym: "CRPS I" EXACT [NCIT:C85042]
synonym: "CRPS1" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "reflex neurovascular dystrophy" EXACT [NCIT:C85042]
synonym: "reflex sympathetic dystrophy" EXACT [OMIM:604335, Orphanet:99995]
synonym: "reflex sympathetic dystrophy syndrome" EXACT [NCIT:C85042]
synonym: "RND" EXACT ABBREVIATION [NCIT:C85042]
synonym: "RSDS" EXACT ABBREVIATION [NCIT:C85042]
xref: DOID:1811 {source="EFO:1001147", source="MONDO:equivalentTo"}
xref: EFO:1001147 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16928 {source="MONDO:GARD"}
xref: ICD10CM:G90.5 {source="DOID:1811"}
xref: ICD10CM:M89.0 {source="Orphanet:99995", source="Orphanet:99995/ntbt", source="DOID:1811", source="MONDO:directSiblingOf"}
xref: ICD9:337.2 {source="EFO:1001147", source="DOID:1811"}
xref: ICD9:337.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1811"}
xref: ICD9:337.21 {source="DOID:1811"}
xref: ICD9:337.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:733.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10038249 {source="EFO:1001147"}
xref: MedDRA:10064334 {source="Orphanet:99995", source="Orphanet:99995/e"}
xref: MEDGEN:11159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012019 {source="EFO:1001147", source="MONDO:equivalentTo", source="DOID:1811"}
xref: NCIT:C85042 {source="MONDO:equivalentTo", source="DOID:1811"}
xref: OMIM:604335 {source="Orphanet:99995", source="MONDO:equivalentTo", source="Orphanet:99995/e", source="DOID:1811"}
xref: Orphanet:83452 {source="OMIM:604335"}
xref: Orphanet:99995 {source="OMIM:604335", source="MONDO:equivalentTo"}
xref: SCTID:128079007 {source="DOID:1811"}
xref: SCTID:156849009 {source="DOID:1811"}
xref: SCTID:15743005 {source="DOID:1811"}
xref: SCTID:192921009 {source="DOID:1811"}
xref: SCTID:203490000 {source="DOID:1811"}
xref: SCTID:203492008 {source="DOID:1811"}
xref: SCTID:2103002 {source="DOID:1811"}
xref: SCTID:393605009 {source="DOID:1811"}
xref: SCTID:403604006 {source="DOID:1811"}
xref: SCTID:50642008 {source="MONDO:equivalentTo", source="DOID:1811"}
xref: UMLS:C0034931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11159"}
is_a: MONDO:0002254 {source="NCIT:C85042"} ! syndromic disease
is_a: MONDO:0019369 {source="DOID:1811", source="MESH:D012019", source="Orphanet:99995"} ! complex regional pain syndrome

[Term]
id: MONDO:0011442
name: advanced sleep phase syndrome 1
def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "advanced sleep phase syndrome caused by mutation in PER2" EXACT [MONDO:design_pattern]
synonym: "advanced sleep phase syndrome type 1" EXACT [DOID:0110011, MONDORULE:1]
synonym: "advanced sleep phase syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:604348]
synonym: "advanced sleep phase syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:604348]
synonym: "familial advanced sleep phase syndrome 1" EXACT [DOID:0110011]
synonym: "FASPS1" EXACT ABBREVIATION [DOID:0110011, MONDO:Lexical, OMIM:604348]
synonym: "PER2 advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110011 {source="MONDO:equivalentTo"}
xref: GARD:15368 {source="MONDO:GARD"}
xref: MEDGEN:813657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604348 {source="MONDO:equivalentTo", source="DOID:0110011"}
xref: Orphanet:164736 {source="OMIM:604348"}
xref: UMLS:C3807327 {source="MEDGEN:813657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015609 {source="DC-OMIM:604348", source="DOID:0110011", source="MONDO:Redundant", source="OMIM:604348"} ! advanced sleep phase syndrome
intersection_of: MONDO:0015609 ! advanced sleep phase syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8846 ! PER2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8846 {source="MONDO:mim2gene_medgen"} ! PER2

[Term]
id: MONDO:0011443
name: febrile seizures, familial, 4
def: "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADGRV1 febrile seizures, familial" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "convulsions, familial febrile, 4" RELATED [OMIM:604352]
synonym: "FEB4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604352]
synonym: "febrile seizures, familial caused by mutation in ADGRV1" EXACT [MONDO:design_pattern]
synonym: "febrile seizures, familial, 4" EXACT [MONDO:Lexical, OMIM:604352]
synonym: "febrile seizures, familial, type 4" EXACT [MONDORULE:1, OMIM:604352]
xref: DOID:0111305 {source="MONDO:equivalentTo"}
xref: MEDGEN:347652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565788 {source="MONDO:equivalentTo"}
xref: OMIM:604352 {source="MONDO:equivalentTo"}
xref: UMLS:C1858493 {source="MEDGEN:347652", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000032 {source="DC-OMIM:604352", source="MONDO:Redundant", source="OMIM:604352"} ! febrile seizures, familial
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
intersection_of: MONDO:0000032 ! febrile seizures, familial
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17416 ! ADGRV1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17416 {source="MONDO:mim2gene_medgen"} ! ADGRV1

[Term]
id: MONDO:0011444
name: Duane retraction syndrome 2
def: "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHN1 Duane retraction syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Duane retraction syndrome 2" EXACT [GARD:0009966, MONDO:Lexical, OMIM:604356]
synonym: "Duane retraction syndrome caused by mutation in CHN1" EXACT [MONDO:design_pattern]
synonym: "Duane retraction syndrome type 2" EXACT [MONDORULE:1, OMIM:604356]
synonym: "Duane syndrome type 2" RELATED [GARD:0009966]
synonym: "DURS2" RELATED ABBREVIATION [GARD:0009966, MONDO:Lexical, OMIM:604356]
xref: GARD:9966 {source="MONDO:GARD"}
xref: MEDGEN:196721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604356 {source="GARD:0009966", source="MONDO:equivalentTo"}
xref: Orphanet:233 {source="GARD:0009966", source="OMIM:604356"}
xref: SCTID:128083007 {source="MONDO:equivalentTo"}
xref: UMLS:C0751083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196721"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:604356", source="Orphanet:233/btnt"} ! Duane retraction syndrome
intersection_of: MONDO:0007473 ! Duane retraction syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1943 ! CHN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1943 {source="MONDO:mim2gene_medgen"} ! CHN1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9966/duane-syndrome-type-2" xsd:anyURI {source="GARD:0009966"}

[Term]
id: MONDO:0011445
name: hereditary spastic paraplegia 11
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2822"}
subset: orphanet_rare {source="Orphanet:2822"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 11" EXACT [DOID:0110764]
synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [DOID:0110764]
synonym: "autosomal recessive spastic paraplegia type 11" EXACT [DOID:0110764]
synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT [DOID:0110764]
synonym: "hereditary spastic paraplegia caused by mutation in SPG11" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia mental impairment and thin corpus callosum" RELATED [GARD:0004919]
synonym: "hereditary spastic paraplegia type 11" EXACT [DOID:0110764, MONDORULE:2]
synonym: "HSP-TCC" EXACT [DOID:0110764, OMIM:604360]
synonym: "Nakamura Osame syndrome" RELATED [GARD:0004919]
synonym: "Nakamura-Osame syndrome" EXACT [DOID:0110764, Orphanet:2822]
synonym: "spastic paraplegia - intellectual deficit - thin corpus callosum" RELATED [GARD:0004919]
synonym: "spastic paraplegia 11" RELATED [GARD:0004919]
synonym: "spastic paraplegia 11, autosomal recessive" RELATED [MONDO:Lexical, OMIM:604360]
synonym: "spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum" RELATED [OMIM:604360]
synonym: "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum" RELATED [OMIM:604360]
synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT [DOID:0110764, Orphanet:2822]
synonym: "SPG11" EXACT ABBREVIATION [DOID:0110764, MONDO:Lexical, OMIM:604360, Orphanet:2822]
synonym: "SPG11 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110764 {source="MONDO:equivalentTo"}
xref: GARD:4919 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110764", source="Orphanet:2822", source="Orphanet:2822/attributed", source="Orphanet:2822/ntbt"}
xref: MEDGEN:388073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537483 {source="Orphanet:2822", source="Orphanet:2822/e"}
xref: MESH:C538335 {source="Orphanet:2822", source="Orphanet:2822/e"}
xref: NCIT:C148317 {source="MONDO:equivalentTo"}
xref: OMIM:604360 {source="DOID:0110764", source="MONDO:equivalentTo", source="Orphanet:2822", source="Orphanet:2822/e"}
xref: Orphanet:2822 {source="DOID:0110764", source="MONDO:equivalentTo", source="OMIM:604360"}
xref: SCTID:715491000 {source="MONDO:equivalentTo"}
xref: UMLS:C1858479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388073"}
is_a: MONDO:0015150 {source="MONDO:Redundant"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110764", source="MONDO:Redundant", source="NCIT:C148317", source="OMIM:604360", source="Orphanet:2822/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 ! SPG11
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2822", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 {source="MONDO:mim2gene_medgen"} ! SPG11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011446
name: myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders
synonym: "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders" EXACT [OMIM:604363]
xref: MEDGEN:388072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565786 {source="MONDO:equivalentTo"}
xref: OMIM:604363 {source="MONDO:equivalentTo"}
xref: UMLS:C1858478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388072"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011447
name: obsolete epilepsy, familial focal, with variable foci
is_obsolete: true
replaced_by: MONDO:0000215

[Term]
id: MONDO:0011448
name: PPARG-related familial partial lipodystrophy
subset: gard_rare {source="GARD:12600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79083"}
subset: orphanet_rare {source="Orphanet:79083"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial partial lipodystrophy associated with PPARG mutations" RELATED [GARD:0012600]
synonym: "familial partial lipodystrophy type 3" EXACT [Orphanet:79083]
synonym: "FPLD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604367, Orphanet:79083]
synonym: "insulin resistance, severe, digenic" RELATED [OMIM:604367, OMIM:genemap2]
synonym: "lipodystrophy, familial partial, associated with Pparg mutations" RELATED [OMIM:604367]
synonym: "lipodystrophy, familial partial, type 3" RELATED [MONDO:Lexical, OMIM:604367]
synonym: "PPARG-related FPLD" EXACT [Orphanet:79083]
xref: DOID:0070204 {source="MONDO:equivalentTo"}
xref: GARD:12600 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:79083/attributed", source="Orphanet:79083/ntbt", source="Orphanet:79083"}
xref: MEDGEN:328393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604367 {source="Orphanet:79083", source="MONDO:equivalentTo", source="Orphanet:79083/e"}
xref: Orphanet:79083 {source="OMIM:604367", source="MONDO:equivalentTo"}
xref: UMLS:C1720861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328393"}
is_a: MONDO:0020088 {source="DC-OMIM:604367", source="OMIM:604367", source="Orphanet:79083"} ! familial partial lipodystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011449
name: Salla disease
def: "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." [https://rarediseases.info.nih.gov/diseases/4754/salla-disease]
subset: gard_rare {source="GARD:4754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309334"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Salla disease" EXACT [MONDO:Lexical, OMIM:604369]
synonym: "SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604369]
synonym: "sialic acid storage disease" EXACT [NCIT:C85067]
synonym: "sialuria, Finnish type" RELATED [OMIM:604369]
xref: GARD:4754 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309334/attributed", source="Orphanet:309334/ntbt", source="Orphanet:309334"}
xref: MedDRA:10067531 {source="Orphanet:309334/e", source="Orphanet:309334"}
xref: MEDGEN:203368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200149 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200582 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201294 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85067 {source="MONDO:equivalentTo"}
xref: OMIM:604369 {source="Orphanet:309334/e", source="MONDO:equivalentTo", source="Orphanet:309334"}
xref: Orphanet:309334 {source="OMIM:604369", source="MONDO:equivalentTo"}
xref: Orphanet:834 {source="OMIM:604369"}
xref: SCTID:87074006 {source="MONDO:equivalentTo"}
xref: UMLS:C1096903 {source="MEDGEN:203368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="MONDO:Redundant", source="NCIT:C85067", source="Orphanet:309334/inferred"} ! lysosomal storage disease
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0019366 {source="Orphanet:309334"} ! free sialic acid storage disease
relationship: disease_has_basis_in_disruption_of GO:0015136 {source="PMID:21502308"} ! sialic acid transmembrane transporter activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10933 {source="MONDO:mim2gene_medgen"} ! SLC17A5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4754/salla-disease" xsd:anyURI {source="GARD:0004754"}

[Term]
id: MONDO:0011450
name: breast-ovarian cancer, familial, susceptibility to, 1
def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: predisposition
subset: rare
synonym: "BRCA1 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "breast cancer, familial, susceptibility to, 1" RELATED [OMIM:604370]
synonym: "breast-ovarian cancer, familial, 1, multifactorial" EXACT [OMIM:604370, OMIM:genemap2]
synonym: "breast-ovarian cancer, familial, susceptibility to, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604370]
synonym: "breast-ovarian cancer, familial, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:604370]
synonym: "BROVCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604370]
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1" EXACT [MONDO:design_pattern]
synonym: "ovarian cancer, familial, susceptibility to, 1" RELATED [OMIM:604370]
synonym: "susceptibility to familial breast-ovarian cancer 1" RELATED [OMIM:604370]
xref: GARD:12351 {source="MONDO:GARD"}
xref: MEDGEN:382914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604370 {source="MONDO:equivalentTo"}
xref: Orphanet:145 {source="OMIM:604370"}
xref: Orphanet:227535 {source="OMIM:604370"}
xref: UMLS:C2676676 {source="MEDGEN:382914", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100526 {source="OMIM:604370"} ! breast-ovarian cancer, familial, susceptibility to
is_a: MONDO:0700268 {source="https://clinicalgenome.org/affiliation/40023/"} ! BRCA1-related cancer predisposition
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1100 ! BRCA1
intersection_of: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome
relationship: excluded_subClassOf MONDO:0003582 {source="MONDO:0011450", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast ovarian cancer syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:604370"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1100 {source="MONDO:mim2gene_medgen"} ! BRCA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011451
name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" EXACT [MONDO:Lexical, OMIM:604377]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1" EXACT [MONDORULE:1, OMIM:604377]
synonym: "CEMCOX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604377]
synonym: "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy" RELATED [OMIM:604377]
synonym: "fatal infantile encephalocardiomyopathy caused by mutation in SCO2" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex IV deficiency, nuclear type 2" EXACT [OMIM:604377, OMIM:genemap2]
synonym: "SCO2 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080357 {source="MONDO:equivalentTo"}
xref: GARD:18570 {source="MONDO:GARD"}
xref: MEDGEN:1748867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604377 {source="MONDO:equivalentTo"}
xref: Orphanet:1561 {source="OMIM:604377"}
xref: UMLS:C5399977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1748867"}
is_a: MONDO:0015487 {source="DC-OMIM:604377", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy
intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 ! SCO2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 {source="MONDO:mim2gene_medgen"} ! SCO2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011452
name: hypotrichosis 7
def: "Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:8178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alopecia universalis congenita, Mari type" RELATED [GARD:0008178]
synonym: "hypotrichosis 7" EXACT [MONDO:Lexical, OMIM:604379]
synonym: "hypotrichosis caused by mutation in LIPH" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 7" EXACT [DOID:0110704, MONDORULE:1, OMIM:604379]
synonym: "hypotrichosis, autosomal recessive" RELATED [OMIM:604379]
synonym: "hypotrichosis, localized, autosomal recessive 2" EXACT [DOID:0110704, OMIM:604379]
synonym: "hypotrichosis, total, Mari type" RELATED [OMIM:604379]
synonym: "HYPT7" EXACT ABBREVIATION [DOID:0110704, MONDO:Lexical, OMIM:604379]
synonym: "Lah2" EXACT [DOID:0110704]
synonym: "LIPH hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Mari type alopecia universalis congenita" RELATED [GARD:0008178]
synonym: "total hypotrichosis, Mari type" RELATED [GARD:0008178]
synonym: "total Mari type hypotrichosis," EXACT [DOID:0110704]
synonym: "Wh/Ht" RELATED [OMIM:604379]
synonym: "woolly hair, autosomal recessive 2 with or without hypotrichosis" EXACT OMO:0003005 []
synonym: "woolly hair, autosomal recessive 2, with or without hypotrichosis" RELATED OMO:0003005 []
synonym: "wooly hair, autosomal recessive 2 with or without hypotrichosis" EXACT [OMIM:604379, OMIM:genemap2]
synonym: "wooly hair, autosomal recessive 2, with or without hypotrichosis" RELATED [OMIM:604379]
xref: DOID:0110704 {source="MONDO:equivalentTo"}
xref: GARD:8178 {source="MONDO:GARD"}
xref: MEDGEN:322969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536973 {source="MONDO:equivalentTo"}
xref: OMIM:604379 {source="MONDO:equivalentTo", source="DOID:0110704"}
xref: Orphanet:170 {source="OMIM:604379"}
xref: Orphanet:55654 {source="OMIM:604379"}
xref: UMLS:C1836672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322969"}
is_a: MONDO:0003037 {source="DOID:0110704", source="MESH:C536973/inferred", source="MONDO:Redundant", source="OMIM:604379"} ! hypotrichosis
is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial wooly hair disorder
is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18483 ! LIPH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18483 {source="MONDO:mim2gene_medgen"} ! LIPH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011453
name: ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
synonym: "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia" EXACT [OMIM:604380]
xref: MEDGEN:346903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565783 {source="MONDO:equivalentTo"}
xref: OMIM:604380 {source="MONDO:equivalentTo"}
xref: UMLS:C1858422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346903"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011454
name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
def: "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." [Orphanet:228190]
subset: gard_rare {source="GARD:17148", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:228190"}
subset: ordo_malformation_syndrome {source="Orphanet:228190"}
subset: orphanet_rare {source="Orphanet:228190"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome" EXACT [Orphanet:228190]
synonym: "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" RELATED [OMIM:604381]
xref: GARD:17148 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:228190/attributed", source="Orphanet:228190/ntbt", source="Orphanet:228190"}
xref: MEDGEN:346902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565782 {source="MONDO:equivalentTo"}
xref: OMIM:604381 {source="Orphanet:228190", source="MONDO:equivalentTo", source="Orphanet:228190/e"}
xref: Orphanet:228190 {source="MONDO:equivalentTo", source="OMIM:604381"}
xref: UMLS:C1858420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346902"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0016432 {source="Orphanet:228190"} ! heart-hand syndrome

[Term]
id: MONDO:0011455
name: lissencephaly, familial, with cleft palate and cerebellar hypoplasia
synonym: "lissencephaly, familial, with cleft palate and cerebellar hypoplasia" EXACT [OMIM:604382]
xref: MEDGEN:348938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565781 {source="MONDO:equivalentTo"}
xref: OMIM:604382 {source="MONDO:equivalentTo"}
xref: UMLS:C1858419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348938"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_major_feature HP:0001339 ! Lissencephaly

[Term]
id: MONDO:0011456
name: nephronophthisis 3
def: "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18179", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "nephronophthisis (disease) caused by mutation in NPHP3" EXACT []
synonym: "nephronophthisis 3" EXACT [MONDO:Lexical, OMIM:604387]
synonym: "nephronophthisis type 3" EXACT [DOID:0111114, MONDORULE:1, OMIM:604387]
synonym: "NPH3" EXACT ABBREVIATION [DOID:0111114]
synonym: "Nph3" RELATED [OMIM:604387]
synonym: "NPHP3" EXACT ABBREVIATION [DOID:0111114, MONDO:Lexical, OMIM:604387]
synonym: "NPHP3 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111114 {source="MONDO:equivalentTo"}
xref: GARD:18179 {source="MONDO:GARD"}
xref: MEDGEN:346809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565780 {source="MONDO:equivalentTo"}
xref: OMIM:604387 {source="MONDO:equivalentTo", source="DOID:0111114"}
xref: Orphanet:655 {source="OMIM:604387"}
xref: UMLS:C1858392 {source="MEDGEN:346809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019005 {source="DC-OMIM:604387", source="DOID:0111114", source="MONDO:Redundant", source="OMIM:604387"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 ! NPHP3
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:604387"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7907 {source="MONDO:mim2gene_medgen"} ! NPHP3

[Term]
id: MONDO:0011457
name: ataxia-telangiectasia-like disorder
def: "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." [NCIT:C132224]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "ataxia - telangiectasia-like disorder" EXACT [Orphanet:251347]
synonym: "ataxia-telangiectasia-like disorder 1" RELATED [MONDO:Lexical, OMIM:604391]
synonym: "ataxia-telangiectasia-like disorder type 1" EXACT [MONDORULE:1, OMIM:604391]
synonym: "ATLD" EXACT ABBREVIATION [Orphanet:251347]
synonym: "ATLD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604391]
xref: ICD10CM:G11.3 {source="Orphanet:251347/attributed", source="Orphanet:251347/ntbt", source="Orphanet:251347"}
xref: ICD9:334.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:348929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565779 {source="MONDO:equivalentTo"}
xref: NCIT:C132224
xref: OMIMPS:604391 {source="MONDO:equivalentTo"}
xref: Orphanet:251347 {source="OMIM:604391"}
xref: SCTID:700058006 {source="MONDO:equivalentTo"}
xref: UMLS:C1858391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348929"}
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/3193", source="https://orcid.org/0000-0001-6330-7526"} ! neurodegenerative disease
relationship: excluded_subClassOf MONDO:0019293 {source="Orphanet:251347", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604391"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0011458
name: Leber congenital amaurosis 4
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AIPL1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "amaurosis congenita of Leber, type 4" RELATED [GARD:0009662]
synonym: "cone-rod dystrophy" BROAD [OMIM:604393, OMIM:genemap2]
synonym: "cone-rod dystrophy, Aipl1-related" RELATED [OMIM:604393]
synonym: "LCA4" EXACT ABBREVIATION [DOID:0110332, MONDO:Lexical, OMIM:604393]
synonym: "Leber congenital amaurosis 4" EXACT [MONDO:Lexical, OMIM:604393]
synonym: "Leber congenital amaurosis caused by mutation in AIPL1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 4" EXACT [DOID:0110332, MONDORULE:1, OMIM:604393]
synonym: "retinitis pigmentosa, juvenile" RELATED [OMIM:604393, OMIM:genemap2]
synonym: "retinitis pigmentosa, juvenile, Aipl1-related" RELATED [OMIM:604393]
xref: DOID:0110332 {source="MONDO:equivalentTo"}
xref: GARD:9662 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110332"}
xref: MEDGEN:346808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565778 {source="MONDO:equivalentTo"}
xref: OMIM:604393 {source="MONDO:equivalentTo", source="DOID:0110332"}
xref: Orphanet:1872 {source="OMIM:604393"}
xref: Orphanet:65 {source="OMIM:604393"}
xref: Orphanet:791 {source="MONDO:relatedTo", source="OMIM:604393"}
xref: UMLS:C1858386 {source="MEDGEN:346808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 ! cone-rod dystrophy
is_a: MONDO:0018998 {source="DC-OMIM:604393", source="DOID:0110332", source="MESH:C565778", source="MONDO:Redundant", source="OMIM:604393"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/359 ! AIPL1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/359 {source="MONDO:mim2gene_medgen"} ! AIPL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4" xsd:anyURI {source="GARD:0009662"}

[Term]
id: MONDO:0011459
name: arrhythmogenic right ventricular dysplasia 5
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 5" EXACT [DOID:0110074, OMIM:604400]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia 5" EXACT CLINGEN_LABEL []
synonym: "arrhythmogenic right ventricular dysplasia type 5" EXACT [DOID:0110074, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 5" RELATED [MONDO:Lexical, OMIM:604400]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 5" EXACT [MONDORULE:1, OMIM:604400]
synonym: "ARVC5" EXACT ABBREVIATION [DOID:0110074]
synonym: "ARVD5" EXACT ABBREVIATION [DOID:0110074, MONDO:Lexical, OMIM:604400]
synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT [DOID:0110074]
synonym: "TMEM43 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110074 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110074"}
xref: MEDGEN:346805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565776 {source="MONDO:equivalentTo"}
xref: OMIM:604400 {source="MONDO:equivalentTo", source="DOID:0110074"}
xref: Orphanet:217656 {source="OMIM:604400"}
xref: UMLS:C1858379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346805"}
is_a: MONDO:0016342 {source="DOID:0110074", source="MESH:C565776", source="MONDO:Redundant", source="OMIM:604400", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28472 ! TMEM43
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28472 {source="MONDO:mim2gene_medgen"} ! TMEM43

[Term]
id: MONDO:0011460
name: arrhythmogenic right ventricular dysplasia 6
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12." [DOID:0110075, PMID:10631146]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 6" EXACT [DOID:0110075, OMIM:604401]
synonym: "arrhythmogenic right ventricular dysplasia type 6" EXACT [DOID:0110075, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 6" RELATED [MONDO:Lexical, OMIM:604401]
synonym: "ARVC6" EXACT ABBREVIATION [DOID:0110075]
synonym: "ARVD6" EXACT ABBREVIATION [DOID:0110075, MONDO:Lexical, OMIM:604401]
synonym: "familial arrhythmogenic right ventricular dysplasia 6" EXACT [DOID:0110075]
xref: DOID:0110075 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110075"}
xref: MEDGEN:346892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565775 {source="MONDO:equivalentTo"}
xref: OMIM:604401 {source="MONDO:equivalentTo", source="DOID:0110075"}
xref: Orphanet:217656 {source="OMIM:604401"}
xref: UMLS:C1858378 {source="MEDGEN:346892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016342 {source="DOID:0110075", source="MESH:C565775", source="MONDO:Redundant", source="OMIM:604401", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia

[Term]
id: MONDO:0011461
name: generalized epilepsy with febrile seizures plus, type 2
def: "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18661", source="MONDO:GARD"}
subset: rare
synonym: "febrile seizures, familial caused by mutation in SCN1A" EXACT [MONDO:design_pattern]
synonym: "febrile seizures, familial, 3A" RELATED [OMIM:604403]
synonym: "Gefs+, type 2" RELATED [OMIM:604403]
synonym: "GEFSP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604403]
synonym: "generalized epilepsy with febrile seizures plus, type 2" EXACT [MONDO:Lexical, OMIM:604403]
synonym: "SCN1A febrile seizures, familial" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111294 {source="MONDO:equivalentTo"}
xref: GARD:18661 {source="MONDO:GARD"}
xref: MEDGEN:388117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565810 {source="MONDO:equivalentTo"}
xref: OMIM:604403 {source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="OMIM:604403"}
xref: UMLS:C1858673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388117"}
is_a: MONDO:0000032 {source="DC-OMIM:604403", source="MONDO:Redundant", source="OMIM:604403"} ! febrile seizures, familial
is_a: MONDO:0018214 {source="DC-OMIM:604403", source="OMIM:604403"} ! generalized epilepsy with febrile seizures plus
intersection_of: MONDO:0000032 ! febrile seizures, familial
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 ! SCN1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="MONDO:mim2gene_medgen"} ! SCN1A

[Term]
id: MONDO:0011462
name: pyogenic arthritis-pyoderma gangrenosum-acne syndrome
def: "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." [Orphanet:69126]
subset: gard_rare {source="GARD:9176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69126"}
subset: orphanet_rare {source="Orphanet:69126"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial recurrent arthritis" EXACT [OMIM:604416, Orphanet:69126]
synonym: "fra" EXACT [Orphanet:69126]
synonym: "papa" EXACT [NCIT:C119055]
synonym: "papa syndrome" EXACT [OMIM:604416, Orphanet:69126]
synonym: "Papas" RELATED [GARD:0009176]
synonym: "pyogenic arthritis, pyoderma gangrenosum and acne" RELATED [GARD:0009176]
synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" RELATED [GARD:0009176]
synonym: "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne" RELATED [OMIM:604416]
xref: DOID:0080519 {source="MONDO:equivalentTo"}
xref: GARD:9176 {source="MONDO:GARD"}
xref: MEDGEN:346801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536253 {source="Orphanet:69126/e", source="MONDO:equivalentTo", source="Orphanet:69126"}
xref: NANDO:1200868 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200437 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119055 {source="MONDO:equivalentTo"}
xref: OMIM:604416 {source="Orphanet:69126/e", source="MONDO:equivalentTo", source="Orphanet:69126"}
xref: Orphanet:69126 {source="MONDO:equivalentTo", source="OMIM:604416"}
xref: SCTID:724015007 {source="MONDO:equivalentTo"}
xref: UMLS:C1858361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346801"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0019751 {source="NCIT:C119055", source="Orphanet:69126/inferred", source="PMID:23827249", source="PMID:33305249", source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9580 {source="MONDO:mim2gene_medgen"} ! PSTPIP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0011463
name: polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
def: "A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination." [Orphanet:538096]
subset: gard_rare {source="GARD:17976", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:538096"}
subset: orphanet_rare {source="Orphanet:538096"}
subset: rare
synonym: "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive" EXACT [OMIM:604431]
xref: GARD:17976 {source="MONDO:GARD"}
xref: MEDGEN:348918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565773 {source="MONDO:equivalentTo"}
xref: OMIM:604431 {source="Orphanet:538096", source="MONDO:equivalentTo"}
xref: Orphanet:538096 {source="MONDO:equivalentTo"}
xref: UMLS:C1858353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348918"}
is_a: MONDO:0000001 {source="Orphanet:538096"} ! disease
is_a: MONDO:0003847 {source="MESH:C565773/inferred"} ! hereditary disease

[Term]
id: MONDO:0011464
name: spinocerebellar ataxia type 11
def: "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." [Orphanet:98767]
subset: gard_rare {source="GARD:10475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98767"}
subset: orphanet_rare {source="Orphanet:98767"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604432, Orphanet:98767]
synonym: "spinocerebellar ataxia 11" RELATED [MONDO:Lexical, OMIM:604432]
synonym: "spinocerebellar ataxia type 11" EXACT [MONDORULE:2, OMIM:604432]
xref: DOID:0050961 {source="MONDO:equivalentTo"}
xref: GARD:10475 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:98767/attributed", source="Orphanet:98767/ntbt", source="Orphanet:98767"}
xref: MEDGEN:346799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565772 {source="MONDO:equivalentTo"}
xref: OMIM:604432 {source="Orphanet:98767", source="DOID:0050961", source="MONDO:equivalentTo", source="Orphanet:98767/e"}
xref: Orphanet:98767 {source="OMIM:604432", source="MONDO:equivalentTo"}
xref: SCTID:719207000 {source="MONDO:equivalentTo"}
xref: UMLS:C1858351 {source="MEDGEN:346799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019793 {source="Orphanet:98767"} ! autosomal dominant cerebellar ataxia type III
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19141 {source="MONDO:mim2gene_medgen"} ! TTBK2

[Term]
id: MONDO:0011465
name: infundibulocystic basal cell carcinoma
subset: gard_rare {source="GARD:9788", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "basal cell carcinoma with follicular differentiation" RELATED [OMIM:604451]
synonym: "basal cell carcinoma, infundibulocystic" RELATED [OMIM:604451]
synonym: "skin infundibulocystic basal cell carcinoma" EXACT [DOID:4279]
xref: DOID:4279 {source="MONDO:equivalentTo"}
xref: GARD:9788 {source="MONDO:GARD"}
xref: MEDGEN:220984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537655 {source="MONDO:equivalentTo"}
xref: NCIT:C27540 {source="MONDO:equivalentTo"}
xref: OMIM:604451 {source="DOID:4279", source="MONDO:equivalentTo"}
xref: UMLS:C1304297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220984"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005341 {source="DC-OMIM:604451", source="DOID:4279", source="NCIT:C27540"} ! skin basal cell carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic" xsd:anyURI {source="GARD:0009788"}

[Term]
id: MONDO:0011466
name: distal myopathy, Welander type
def: "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors." [Orphanet:603]
subset: gard_rare {source="GARD:5552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:603"}
subset: orphanet_rare {source="Orphanet:603"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal myopathy, Swedish type" RELATED [GARD:0005552]
synonym: "muscular dystrophy, distal, late-onset, autosomal dominant" RELATED [OMIM:604454]
synonym: "myopathy, distal, Swedish" RELATED [OMIM:604454]
synonym: "WDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604454, Orphanet:603]
synonym: "Welander distal myopathy" RELATED [MONDO:Lexical, OMIM:604454]
synonym: "Welander distal myopathy, Swedish type" RELATED [GARD:0005552]
xref: GARD:5552 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:603/attributed", source="Orphanet:603/ntbt", source="Orphanet:603"}
xref: MEDGEN:67441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536690 {source="Orphanet:603", source="Orphanet:603/e"}
xref: OMIM:604454 {source="Orphanet:603", source="MONDO:equivalentTo", source="Orphanet:603/e"}
xref: Orphanet:603 {source="OMIM:604454", source="MONDO:equivalentTo"}
xref: UMLS:C0221054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67441"}
is_a: MONDO:0016108 {source="Orphanet:603"} ! autosomal dominant distal myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11802 {source="MONDO:mim2gene_medgen"} ! TIA1

[Term]
id: MONDO:0011467
name: obsolete human herpesvirus type 6, integrated
synonym: "human herpesvirus type 6, integrated" EXACT [OMIM:604474]
xref: MESH:C565771 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:604474 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0011468
name: hereditary motor and sensory neuropathy, Okinawa type
def: "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." [Orphanet:90117]
subset: gard_rare {source="GARD:10131", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90117"}
subset: orphanet_rare {source="Orphanet:90117"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary motor and sensory neuropathy, proximal type" EXACT [OMIM:604484, Orphanet:90117]
synonym: "hereditary motor and sensory neuropathy, proximal type, formerly" RELATED [OMIM:604484]
synonym: "HMSNO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604484]
synonym: "HMSNP" EXACT ABBREVIATION [Orphanet:90117]
synonym: "neuropathy, hereditary motor and sensory, Okinawa type" RELATED [MONDO:Lexical, OMIM:604484]
xref: GARD:10131 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:90117/inclusion", source="Orphanet:90117/ntbt", source="Orphanet:90117"}
xref: MEDGEN:346886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535717 {source="Orphanet:90117/e", source="MONDO:equivalentTo", source="Orphanet:90117"}
xref: OMIM:604484 {source="Orphanet:90117/e", source="MONDO:equivalentTo", source="Orphanet:90117"}
xref: Orphanet:90117 {source="MONDO:equivalentTo", source="OMIM:604484"}
xref: UMLS:C1858338 {source="MONDO:equivalentTo", source="MEDGEN:346886", source="MONDO:MEDGEN"}
is_a: MONDO:0002316 {source="DC-OMIM:604484"} ! motor peripheral neuropathy
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11758 {source="MONDO:mim2gene_medgen"} ! TFG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011469
name: obsolete congenital amegakaryocytic thrombocytopenia
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:640 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:2200651 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6622" xsd:anyURI
is_obsolete: true
consider: MONDO:0800451
consider: MONDO:0800452

[Term]
id: MONDO:0011470
name: hyperlipidemia, combined, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hyperlipidemia, combined, 2" EXACT [OMIM:604499]
synonym: "hyperlipidemia, combined, type 2" EXACT [MONDORULE:1, OMIM:604499]
synonym: "hyperlipidemia, familial combined, 2" RELATED [OMIM:604499]
synonym: "hyplip2" RELATED [OMIM:604499]
xref: MEDGEN:346879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565766 {source="MONDO:equivalentTo"}
xref: OMIM:604499 {source="MONDO:equivalentTo"}
xref: UMLS:C1858308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346879"}
is_a: MONDO:0001336 {source="DC-OMIM:604499", source="MESH:C565766"} ! familial hyperlipidemia

[Term]
id: MONDO:0011471
name: inflammatory bowel disease 3
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3." [DOID:0110891, PMID:10577918]
synonym: "IBD3" EXACT ABBREVIATION [DOID:0110891, MONDO:Lexical, OMIM:604519]
synonym: "inflammatory bowel disease 3" EXACT [MONDO:Lexical, OMIM:604519]
synonym: "inflammatory bowel disease type 3" EXACT [DOID:0110891, MONDORULE:1]
xref: DOID:0110891 {source="MONDO:equivalentTo"}
xref: MEDGEN:346785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565764 {source="MONDO:equivalentTo"}
xref: OMIM:604519 {source="MONDO:equivalentTo", source="DOID:0110891"}
xref: Orphanet:206 {source="OMIM:604519"}
xref: Orphanet:771 {source="OMIM:604519"}
xref: UMLS:C1858303 {source="MEDGEN:346785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DC-OMIM:604519", source="DOID:0110891", source="MESH:C565764", source="OMIM:604519"} ! inflammatory bowel disease

[Term]
id: MONDO:0011472
name: epidermolysis bullosa simplex due to plakophilin deficiency
def: "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering." [Orphanet:158668]
subset: gard_rare {source="GARD:9705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158668"}
subset: orphanet_rare {source="Orphanet:158668"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia - skin fragility syndrome" RELATED [GARD:0009705]
synonym: "ectodermal dysplasia skin fragility syndrome" RELATED [GARD:0009705]
synonym: "ectodermal dysplasia-skin fragility syndrome" EXACT [Orphanet:158668]
synonym: "ectodermal dysplasia/skin fragility syndrome" RELATED [OMIM:604536]
synonym: "McGrath syndrome" EXACT [Orphanet:158668]
synonym: "Mcgrath syndrome" RELATED [OMIM:604536]
xref: GARD:9705 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:158668", source="Orphanet:158668/attributed", source="Orphanet:158668/ntbt"}
xref: MEDGEN:388032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536183 {source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"}
xref: OMIM:604536 {source="MONDO:equivalentTo", source="Orphanet:158668", source="Orphanet:158668/e"}
xref: Orphanet:158668 {source="OMIM:604536", source="MONDO:equivalentTo"}
xref: SCTID:716699004 {source="MONDO:equivalentTo"}
xref: UMLS:C1858302 {source="MEDGEN:388032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015550 {source="Orphanet:158668"} ! suprabasal epidermolysis bullosa simplex
is_a: MONDO:0019287 {source="MESH:C536183", source="Orphanet:158668"} ! ectodermal dysplasia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9023 {source="MONDO:mim2gene_medgen"} ! PKP1

[Term]
id: MONDO:0011473
name: Leber congenital amaurosis 5
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 5" RELATED [GARD:0009983]
synonym: "LCA5" EXACT ABBREVIATION [DOID:0110215, MONDO:Lexical, OMIM:604537]
synonym: "LCA5 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Leber congenital amaurosis 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604537]
synonym: "Leber congenital amaurosis caused by mutation in LCA5" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 5" EXACT [DOID:0110215, MONDORULE:1, OMIM:604537]
xref: DOID:0110215 {source="MONDO:equivalentTo"}
xref: GARD:9983 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110215", source="MONDO:relatedTo"}
xref: MEDGEN:388031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536602 {source="MONDO:equivalentTo"}
xref: OMIM:604537 {source="DOID:0110215", source="MONDO:equivalentTo"}
xref: UMLS:C1858301 {source="MEDGEN:388031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:604537", source="DOID:0110215", source="MESH:C536602", source="MONDO:Redundant", source="OMIM:604537"} ! Leber congenital amaurosis
is_a: MONDO:0100445 {source="https://clinicalgenome.org/affiliation/40072/"} ! LCA5-related retinopathy
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31923 ! LCA5
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31923 {source="MONDO:mim2gene_medgen"} ! LCA5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9983/leber-congenital-amaurosis-5" xsd:anyURI {source="GARD:0009983"}

[Term]
id: MONDO:0011474
name: progressive familial heart block type IB
def: "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:2610", source="MONDO:GARD"}
subset: rare
synonym: "heart block progressive familial type 1B" RELATED [GARD:0002610]
synonym: "PFHB1B" EXACT ABBREVIATION [DOID:0111076, MONDO:Lexical, OMIM:604559]
synonym: "Pfhbib" RELATED [OMIM:604559]
synonym: "progressive familial heart block caused by mutation in TRPM4" EXACT [MONDO:design_pattern]
synonym: "progressive familial heart block type 1B" RELATED [GARD:0002610]
synonym: "progressive familial heart block, type 1B" RELATED [OMIM:604559]
synonym: "progressive familial heart block, type IB" RELATED [MONDO:Lexical, OMIM:604559]
synonym: "TRPM4 progressive familial heart block" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111076 {source="MONDO:equivalentTo"}
xref: GARD:2610 {source="MONDO:GARD"}
xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:370220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567037 {source="MONDO:equivalentTo"}
xref: OMIM:604559 {source="MONDO:equivalentTo", source="DOID:0111076"}
xref: Orphanet:871 {source="OMIM:604559"}
xref: SCTID:698250005 {source="MONDO:equivalentTo"}
xref: UMLS:C1970298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370220"}
is_a: MONDO:0019490 {source="DC-OMIM:604559", source="DOID:0111076", source="MONDO:Redundant", source="OMIM:604559"} ! progressive familial heart block
intersection_of: MONDO:0019490 ! progressive familial heart block
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17993 ! TRPM4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17993 {source="MONDO:mim2gene_medgen"} ! TRPM4

[Term]
id: MONDO:0011475
name: Charcot-Marie-Tooth disease type 4B2
def: "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported." [Orphanet:99956]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99956"}
subset: orphanet_rare {source="Orphanet:99956"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT [DOID:0110190]
synonym: "Charcot Marie Tooth disease type 4B2" RELATED [GARD:0009200]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 4B2" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, type 4B2" RELATED [MONDO:Lexical, OMIM:604563]
synonym: "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563]
synonym: "Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2" RELATED [OMIM:604563]
synonym: "Charcot-Marie-Tooth neuropathy type 4B2" EXACT [DOID:0110190]
synonym: "Charcot-Marie-Tooth neuropathy, type 4B2" RELATED [OMIM:604563]
synonym: "Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563]
synonym: "CMT 4B2" RELATED [GARD:0009200]
synonym: "CMT4B2" EXACT ABBREVIATION [DOID:0110190, MONDO:Lexical, OMIM:604563, Orphanet:99956]
synonym: "SBF2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110190 {source="MONDO:equivalentTo"}
xref: GARD:9200 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110190", source="Orphanet:99956", source="Orphanet:99956/attributed", source="Orphanet:99956/ntbt"}
xref: MEDGEN:346869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535421 {source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"}
xref: OMIM:604563 {source="DOID:0110190", source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"}
xref: Orphanet:99956 {source="DOID:0110190", source="MONDO:equivalentTo", source="OMIM:604563"}
xref: SCTID:715800000 {source="MONDO:equivalentTo"}
xref: UMLS:C1858278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346869"}
is_a: MONDO:0015626 {source="DOID:0110190/inferred", source="MESH:C535421", source="MONDO:Redundant", source="OMIM:604563", source="Orphanet:99956/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110190", source="MONDO:Redundant", source="Orphanet:99956"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2135 ! SBF2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2135 {source="MONDO:mim2gene_medgen"} ! SBF2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2" xsd:anyURI {source="GARD:0009200"}

[Term]
id: MONDO:0011476
name: MHC class I deficiency
def: "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." [Orphanet:34592]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:34592"}
subset: orphanet_rare {source="Orphanet:34592"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bare lymphocyte syndrome type 1" EXACT [Orphanet:34592]
synonym: "bare lymphocyte syndrome type I" EXACT [DOID:0060009]
synonym: "Bare lymphocyte syndrome, type 1" RELATED [OMIM:604571]
synonym: "BARE lymphocyte syndrome, type I" RELATED [OMIM:604571]
synonym: "BLS type 1" RELATED [GARD:0008427]
synonym: "Bls, type 1" RELATED [OMIM:604571]
synonym: "BLS, type I" EXACT [DOID:0060009]
synonym: "BLSI" EXACT ABBREVIATION [DOID:0060009]
synonym: "HLA Class 1 deficiency" RELATED [OMIM:604571]
synonym: "HLA CLASS I deficiency" EXACT [DOID:0060009]
synonym: "immunodeficiency by defective expression of HLA class 1" EXACT [Orphanet:34592]
synonym: "immunodeficiency by defective expression of HLA class type 1" EXACT [MONDORULE:1, Orphanet:34592]
xref: DOID:0060009 {source="MONDO:equivalentTo"}
xref: GARD:8427 {source="MONDO:GARD"}
xref: ICD10CM:D81.6 {source="Orphanet:34592/specific", source="Orphanet:34592", source="Orphanet:34592/e"}
xref: icd11.foundation:489749747 {source="MONDO:equivalentTo", source="Orphanet:34592", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:346868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200328 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200701 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:604571 {source="Orphanet:34592", source="DOID:0060009", source="MONDO:mondoIsBroaderThanSource", source="Orphanet:34592/e"}
xref: OMIMPS:604571 {source="MONDO:equivalentTo"}
xref: Orphanet:34592 {source="MONDO:equivalentTo", source="OMIM:604571"}
xref: SCTID:725136003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346868"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency
relationship: excluded_subClassOf MONDO:0015974 {source="DOID:0060009", source="https://github.com/monarch-initiative/mondo-build/issues/108", source="https://orcid.org/0000-0001-5208-3432"} ! severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:34592", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604571"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011477
name: tooth agenesis, selective, 3
def: "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18247", source="MONDO:GARD"}
subset: rare
synonym: "hypodontia/oligodontia 3" RELATED [OMIM:604625]
synonym: "PAX9 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STHAG3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604625]
synonym: "tooth agenesis caused by mutation in PAX9" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604625]
synonym: "tooth agenesis, selective, type 3" EXACT [MONDORULE:1, OMIM:604625]
xref: GARD:18247 {source="MONDO:GARD"}
xref: MEDGEN:410035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567036 {source="MONDO:equivalentTo"}
xref: OMIM:604625 {source="MONDO:equivalentTo"}
xref: Orphanet:2227 {source="OMIM:604625"}
xref: Orphanet:99798 {source="OMIM:604625"}
xref: UMLS:C1970291 {source="MEDGEN:410035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:604625", source="MONDO:Redundant", source="OMIM:604625"} ! tooth agenesis
intersection_of: MONDO:0005486 ! tooth agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8623 ! PAX9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8623 {source="MONDO:mim2gene_medgen"} ! PAX9

[Term]
id: MONDO:0011478
name: growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia
synonym: "growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia" EXACT [OMIM:604690]
synonym: "growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia" EXACT DEPRECATED [OMIM:604690]
synonym: "Roca syndrome" RELATED [OMIM:604690]
synonym: "Roca-Weidemann syndrome" RELATED [OMIM:604690]
xref: MEDGEN:346757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565755 {source="MONDO:equivalentTo"}
xref: OMIM:604690 {source="MONDO:equivalentTo"}
xref: UMLS:C1858182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346757"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011479
name: postural orthostatic tachycardia syndrome
def: "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart." [EFO:1000645]
subset: gard_rare {source="GARD:13591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443236"}
subset: orphanet_rare {source="Orphanet:443236"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT [DOID:0111154, Orphanet:443236]
synonym: "irritable heart" EXACT [DOID:0111154]
synonym: "mitral valve prolapse syndrome" RELATED EXCLUDE [DOID:0111154]
synonym: "neurocirculatory asthenia" RELATED [DOID:0111154, OMIM:604715]
synonym: "orhtostatic intolerance" EXACT [DOID:0111154]
synonym: "orthostatic intolerance" RELATED [OMIM:604715]
synonym: "orthostatic intolerance due to NET deficiency" EXACT [DOID:0111154, Orphanet:443236]
synonym: "postural tachycardia syndrome due to NET deficiency" EXACT [DOID:0111154, Orphanet:443236]
synonym: "POTS" EXACT ABBREVIATION [https://orcid.org/0000-0002-9353-5498]
synonym: "Soldiers heart" RELATED [OMIM:604715]
synonym: "soldiers heart" EXACT [DOID:0111154]
xref: DOID:0111154 {source="MONDO:equivalentTo"}
xref: EFO:1000645 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13591 {source="MONDO:GARD"}
xref: ICD10CM:I95.1 {source="Orphanet:443236/attributed", source="Orphanet:443236/ntbt", source="Orphanet:443236", source="DOID:0111154"}
xref: MEDGEN:226970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054972 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C85020 {source="MONDO:equivalentTo"}
xref: OMIM:604715 {source="Orphanet:443236", source="MONDO:equivalentTo", source="EFO:1000645", source="DOID:0111154", source="Orphanet:443236/e"}
xref: Orphanet:443236 {source="MONDO:equivalentTo", source="DOID:0111154"}
xref: SCTID:8074002 {source="MONDO:equivalentTo"}
xref: UMLS:C1299624 {source="MEDGEN:226970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000992 {source="DOID:0111154"} ! heart conduction disease
is_a: MONDO:0015914 {source="Orphanet:443236"} ! primary orthostatic hypotension
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11048 {source="MONDO:mim2gene_medgen"} ! SLC6A2
property_value: IAO:0000233 "https://github.com/obophenotype/human-phenotype-ontology/issues/7613" xsd:anyURI

[Term]
id: MONDO:0011480
name: autosomal dominant nonsyndromic hearing loss 20
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTG1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant deafness 20" NARROW [DOID:0110550]
synonym: "autosomal dominant nonsyndromic deafness 20" NARROW [OMIM:604717]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in ACTG1" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 20" NARROW [DOID:0110550, MONDORULE:2]
synonym: "deafness, autosomal dominant 20" NARROW [MONDO:Lexical, OMIM:604717]
synonym: "deafness, autosomal dominant 20/26" NARROW [OMIM:604717, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 20" NARROW [MONDORULE:2, OMIM:604717]
synonym: "DFNA20" NARROW ABBREVIATION [DOID:0110550, MONDO:Lexical, OMIM:604717]
synonym: "DFNA26" NARROW ABBREVIATION [DOID:0110550]
xref: DOID:0110550 {source="MONDO:equivalentTo"}
xref: GARD:18111 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110550"}
xref: MEDGEN:346852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565754 {source="MONDO:equivalentTo"}
xref: OMIM:604717 {source="MONDO:equivalentTo", source="DOID:0110550"}
xref: Orphanet:90635 {source="OMIM:604717"}
xref: UMLS:C1858172 {source="MEDGEN:346852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:604717", source="DOID:0110550", source="MONDO:Redundant", source="OMIM:604717"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 ! ACTG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 {source="MONDO:mim2gene_medgen"} ! ACTG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011481
name: craniosynostosis 2
def: "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." [Orphanet:1541]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1541"}
subset: ordo_malformation_syndrome {source="Orphanet:1541"}
subset: orphanet_rare {source="Orphanet:1541"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604757]
synonym: "craniosynostosis Boston type" RELATED EXCLUDE [GARD:0005538]
synonym: "craniosynostosis type 2" EXACT [MONDORULE:1, OMIM:604757]
synonym: "craniosynostosis Warman type" RELATED [GARD:0005538]
synonym: "craniosynostosis, Boston-type" RELATED EXCLUDE [OMIM:604757]
synonym: "craniosynostosis, Warman type" EXACT [Orphanet:1541]
synonym: "CRS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604757]
synonym: "MSX2-related craniosynostosis" EXACT [https://github.com/mhughes5, https://github.com/monarch-initiative/mondo/issues/1933]
synonym: "Warman Mulliken Hayward syndrome" RELATED [GARD:0005538]
synonym: "Warman-Mulliken-Hayward syndrome" EXACT [Orphanet:1541]
xref: GARD:5538 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:1541", source="Orphanet:1541/attributed", source="Orphanet:1541/ntbt"}
xref: MEDGEN:346753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604757 {source="Orphanet:1541", source="MONDO:equivalentTo", source="Orphanet:1541/e"}
xref: Orphanet:1541 {source="MONDO:equivalentTo", source="OMIM:604757"}
xref: SCTID:720817008 {source="MONDO:equivalentTo"}
xref: UMLS:C1858160 {source="MEDGEN:346753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:1541", source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="MONDO:Redundant", source="OMIM:604757", source="Orphanet:1541/inferred"} ! craniosynostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7392 {source="MONDO:mim2gene_medgen"} ! MSX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011482
name: dilated cardiomyopathy 1I
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1I" RELATED [MONDO:Lexical, OMIM:604765]
synonym: "cardiomyopathy, dilated, type 1I" EXACT [MONDORULE:4, OMIM:604765]
synonym: "CMD1I" EXACT ABBREVIATION [DOID:0110431, MONDO:Lexical, OMIM:604765]
synonym: "DES familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dilated cardiomyopathy type 1I" EXACT [DOID:0110431, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in DES" EXACT [MONDO:design_pattern]
xref: DOID:0110431 {source="MONDO:equivalentTo"}
xref: GARD:15372 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110431"}
xref: MEDGEN:387998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565752 {source="MONDO:equivalentTo"}
xref: OMIM:604765 {source="MONDO:equivalentTo", source="DOID:0110431"}
xref: UMLS:C1858154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387998"}
is_a: MONDO:0016187 ! qualitative or quantitative defects of desmin
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:604765"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 {source="MONDO:mim2gene_medgen"} ! DES

[Term]
id: MONDO:0011483
name: polycystic bone disease
synonym: "Pcbd" RELATED [OMIM:604771]
synonym: "polycystic bone disease" EXACT [OMIM:604771]
xref: MEDGEN:346749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536324 {source="MONDO:equivalentTo"}
xref: OMIM:604771 {source="MONDO:equivalentTo"}
xref: UMLS:C1858143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346749"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8571/polycystic-bone-disease" xsd:anyURI {source="GARD:0008571"}

[Term]
id: MONDO:0011484
name: catecholaminergic polymorphic ventricular tachycardia 1
def: "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene." [NCIT:C123414]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT DEPRECATED [DOID:0110071, OMIM:600996]
synonym: "arrhythmogenic right ventricular dysplasia 2" EXACT DEPRECATED [MONDO:0010975]
synonym: "arrhythmogenic right ventricular dysplasia type 2" EXACT DEPRECATED [DOID:0110071, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:600996]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:600996]
synonym: "ARVC2" EXACT DEPRECATED [DOID:0110071]
synonym: "ARVD2" EXACT DEPRECATED [DOID:0110071, MONDO:Lexical, OMIM:600996]
synonym: "catecholaminergic polymorphic ventricular tachycardia 1" EXACT CLINGEN_LABEL []
synonym: "catecholaminergic polymorphic ventricular tachycardia type 1" EXACT [DOID:0060675, MONDORULE:1]
synonym: "CPVT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604772]
synonym: "CVPT1" EXACT ABBREVIATION [DOID:0060675]
synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT DEPRECATED [DOID:0110071]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2" EXACT [MONDO:design_pattern]
synonym: "RYR2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1" EXACT [OMIM:604772, OMIM:genemap2]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:604772]
synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [OMIM:604772]
xref: DOID:0060675 {source="MONDO:equivalentTo"}
xref: DOID:0110071 {source="MONDO:equivalentObsolete"}
xref: ICD10CM:I42.8 {source="DOID:0110071"}
xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060675"}
xref: MEDGEN:351513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563409 {source="MONDO:equivalentTo"}
xref: NCIT:C123414 {source="MONDO:equivalentTo"}
xref: OMIM:600996 {source="DOID:0110071", source="MONDO:equivalentObsolete"}
xref: OMIM:604772 {source="DOID:0060675", source="MONDO:equivalentTo"}
xref: Orphanet:217656 {source="OMIM:600996"}
xref: Orphanet:3286 {source="OMIM:604772"}
xref: UMLS:C1631597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351513"}
is_a: MONDO:0016342 {source="DOID:0110071", source="MESH:C563409", source="MONDO:Redundant", source="OMIM:600996", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
is_a: MONDO:0017990 {source="DC-OMIM:604772", source="DOID:0060675", source="OMIM:604772"} ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10484 ! RYR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10484 {source="MONDO:mim2gene_medgen"} ! RYR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6200" xsd:anyURI

[Term]
id: MONDO:0011485
name: autosomal recessive congenital ichthyosis 5
def: "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13." [DOID:0060714, PMID:10712223, PMID:16436457]
subset: gard_rare {source="GARD:9734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI5" EXACT ABBREVIATION [DOID:0060714, MESH:C537265, MONDO:Lexical, OMIM:604777]
synonym: "autosomal recessive congenital ichthyosis 5" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive congenital ichthyosis type 5" EXACT [DOID:0060714, MONDORULE:1]
synonym: "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT [DOID:0060714]
synonym: "ichthyosis congenita 3" RELATED [MESH:C537265, OMIM:604777]
synonym: "ichthyosis congenita III" RELATED [GARD:0009734, MESH:C537265]
synonym: "ichthyosis lamellar 3" RELATED [MESH:C537265]
synonym: "ichthyosis, congenital, autosomal recessive 5" RELATED [MESH:C537265, MONDO:Lexical, OMIM:604777]
synonym: "ichthyosis, congenital, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:604777]
synonym: "ichthyosis, lamellar, 3" RELATED [MESH:C537265, OMIM:604777]
synonym: "ichthyosis, lamellar, 3, formerly" RELATED [MESH:C537265, OMIM:604777]
synonym: "ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive" RELATED [MESH:C537265]
synonym: "ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive" RELATED [OMIM:604777]
synonym: "lamellar ichthyosis, type 3" RELATED [GARD:0009734]
synonym: "LI3, formerly" RELATED [MESH:C537265]
synonym: "NNCI" RELATED ABBREVIATION [MESH:C537265]
synonym: "type 3 lamellar ichthyosis" RELATED [MESH:C537265]
xref: DOID:0060714 {source="MONDO:equivalentTo"}
xref: GARD:9734 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060714"}
xref: MEDGEN:347628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537265 {source="MONDO:equivalentTo"}
xref: OMIM:604777 {source="GARD:0009734", source="MONDO:equivalentTo", source="DOID:0060714"}
xref: Orphanet:313 {source="OMIM:604777"}
xref: UMLS:C1858133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347628"}
is_a: MONDO:0017265 {source="OMIM:604777"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017778 {source="MESH:C537265", source="Orphanet:313/btnt"} ! lamellar ichthyosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3" xsd:anyURI {source="GARD:0009734"}

[Term]
id: MONDO:0011486
name: congenital muscular dystrophy 1B
def: "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." [Orphanet:98893]
subset: gard_rare {source="GARD:12586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98893"}
subset: orphanet_rare {source="Orphanet:98893"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMD1B" EXACT ABBREVIATION [DOID:0110634, Orphanet:98893]
synonym: "congenital muscular dystrophy type 1B" EXACT [DOID:0110634, MONDORULE:4]
synonym: "MDC1B" EXACT ABBREVIATION [DOID:0110634, MONDO:Lexical, OMIM:604801, Orphanet:98893]
synonym: "muscular dystrophy, congenital, 1B" RELATED [MONDO:Lexical, OMIM:604801]
xref: DOID:0110634 {source="MONDO:equivalentTo"}
xref: GARD:12586 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="DOID:0110634", source="Orphanet:98893/attributed", source="Orphanet:98893/ntbt", source="Orphanet:98893"}
xref: MEDGEN:346746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565748 {source="MONDO:equivalentTo"}
xref: OMIM:604801 {source="DOID:0110634", source="Orphanet:98893/e", source="MONDO:equivalentTo", source="Orphanet:98893"}
xref: Orphanet:98893 {source="DOID:0110634", source="MONDO:equivalentTo", source="OMIM:604801"}
xref: SCTID:764944006 {source="MONDO:equivalentTo"}
xref: UMLS:C1858118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346746"}
is_a: MONDO:0019950 {source="DOID:0110634", source="Orphanet:98893"} ! congenital muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011487
name: Huntington disease-like 3
def: "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." [Orphanet:157946]
subset: gard_rare {source="GARD:16986", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157946"}
subset: orphanet_rare {source="Orphanet:157946"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HDL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604802, Orphanet:157946]
synonym: "Huntington disease-like 3" EXACT [MONDO:Lexical, OMIM:604802]
synonym: "Huntington disease-like neurodegenerative disorder, autosomal recessive" RELATED [OMIM:604802]
synonym: "Huntington disease-like type 3" EXACT [MONDORULE:1, Orphanet:157946]
xref: GARD:16986 {source="MONDO:GARD"}
xref: ICD10CM:G10 {source="Orphanet:157946/attributed", source="Orphanet:157946/ntbt", source="Orphanet:157946"}
xref: MEDGEN:347622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565747 {source="MONDO:equivalentTo"}
xref: OMIM:604802 {source="Orphanet:157946/e", source="MONDO:equivalentTo", source="Orphanet:157946"}
xref: Orphanet:157946 {source="MONDO:equivalentTo", source="OMIM:604802"}
xref: UMLS:C1858114 {source="MEDGEN:347622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0015548 {source="Orphanet:157946"} ! Huntington disease-like syndrome
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0011488
name: microcephaly 3, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in CDK5RAP2" EXACT [MONDO:design_pattern]
synonym: "CDK5RAP2 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604804]
synonym: "microcephaly 3, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604804]
xref: DOID:0070286 {source="MONDO:equivalentTo"}
xref: GARD:15373 {source="MONDO:GARD"}
xref: MEDGEN:347619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565746 {source="MONDO:equivalentTo"}
xref: OMIM:604804 {source="MONDO:equivalentTo"}
xref: Orphanet:2512 {source="OMIM:604804"}
xref: UMLS:C1858108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347619"}
is_a: MONDO:0016660 {source="DC-OMIM:604804", source="MONDO:Redundant", source="OMIM:604804"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18672 ! CDK5RAP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18672 {source="MONDO:mim2gene_medgen"} ! CDK5RAP2

[Term]
id: MONDO:0011489
name: hereditary spastic paraplegia 12
def: "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus." [Orphanet:100993]
subset: gard_rare {source="GARD:9586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100993"}
subset: orphanet_rare {source="Orphanet:100993"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 12" EXACT [DOID:0110765]
synonym: "autosomal dominant spastic paraplegia type 12" EXACT [DOID:0110765]
synonym: "hereditary spastic paraplegia caused by mutation in RTN2" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 12" EXACT [DOID:0110765, MONDORULE:2]
synonym: "RTN2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 12" RELATED [GARD:0009586]
synonym: "spastic paraplegia 12, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604805]
synonym: "SPG12" EXACT ABBREVIATION [DOID:0110765, MONDO:Lexical, OMIM:604805, Orphanet:100993]
xref: DOID:0110765 {source="MONDO:equivalentTo"}
xref: GARD:9586 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110765", source="Orphanet:100993/attributed", source="Orphanet:100993/ntbt", source="Orphanet:100993"}
xref: MEDGEN:347618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537484 {source="Orphanet:100993", source="MONDO:equivalentTo", source="Orphanet:100993/e"}
xref: OMIM:604805 {source="DOID:0110765", source="Orphanet:100993", source="MONDO:equivalentTo", source="Orphanet:100993/e"}
xref: Orphanet:100993 {source="DOID:0110765", source="MONDO:equivalentTo", source="OMIM:604805"}
xref: SCTID:763374004 {source="MONDO:equivalentTo"}
xref: UMLS:C1858106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347618"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110765", source="MESH:C537484", source="MONDO:Redundant", source="OMIM:604805", source="Orphanet:100993/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10468 ! RTN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10468 {source="MONDO:mim2gene_medgen"} ! RTN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0011490
name: diffuse panbronchiolitis
def: "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis" [Orphanet:171700]
subset: gard_rare {source="GARD:8526", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171700"}
subset: orphanet_rare {source="Orphanet:171700"}
subset: rare
synonym: "DPb" RELATED [OMIM:604809]
synonym: "panbronchiolitis, diffuse" RELATED [OMIM:604809]
synonym: "PBLT" RELATED ABBREVIATION [OMIM:604809]
xref: GARD:8526 {source="MONDO:GARD"}
xref: icd11.foundation:291357751 {source="MONDO:equivalentTo", source="Orphanet:171700"}
xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062952 {source="Orphanet:171700/e", source="Orphanet:171700"}
xref: MEDGEN:163897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536174 {source="Orphanet:171700/e", source="MONDO:equivalentTo", source="Orphanet:171700"}
xref: OMIM:604809 {source="Orphanet:171700/e", source="MONDO:equivalentTo", source="Orphanet:171700"}
xref: Orphanet:171700 {source="MONDO:equivalentTo", source="OMIM:604809"}
xref: SCTID:430476004 {source="MONDO:equivalentTo"}
xref: UMLS:C0878555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163897"}
is_a: MONDO:0005002 {source="https://orcid.org/0000-0002-6601-2165"} ! chronic obstructive pulmonary disease
is_a: MONDO:0005087 {source="Orphanet:171700"} ! respiratory system disorder
relationship: disease_has_location UBERON:0002188 ! respiratory bronchiole
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis" xsd:anyURI {source="GARD:0008526"}

[Term]
id: MONDO:0011491
name: epilepsy, idiopathic generalized, susceptibility to, 7
subset: predisposition
synonym: "EIG7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604827]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:604827]
synonym: "epilepsy, juvenile myoclonic" EXACT [OMIM:604827, OMIM:genemap2]
synonym: "myoclonic epilepsy, juvenile, 2" RELATED [OMIM:604827]
xref: DOID:0111321 {source="MONDO:equivalentTo"}
xref: MEDGEN:442800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604827 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="MONDO:relatedTo", source="OMIM:604827"}
xref: UMLS:C2751729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442800"}
is_a: MONDO:0020573 {source="OMIM:604827"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005579 {source="DC-OMIM:604827", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:604827"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011492
name: mandibulofacial dysostosis syndrome, Bauru type
synonym: "mandibulofacial dysostosis syndrome, Bauru type" EXACT [OMIM:604830]
xref: MEDGEN:346839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565744 {source="MONDO:equivalentTo"}
xref: OMIM:604830 {source="MONDO:equivalentTo"}
xref: UMLS:C1858101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346839"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011493
name: Stickler syndrome type 2
def: "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." [Orphanet:828]
subset: gard_rare {source="GARD:5020", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90654"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COL11A1 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Stickler syndrome caused by mutation in COL11A1" EXACT [MONDO:design_pattern]
synonym: "Stickler syndrome type II" EXACT [NCIT:C74985]
synonym: "Stickler syndrome, beaded vitreous type" RELATED [OMIM:604841]
synonym: "Stickler syndrome, type 2" RELATED [GARD:0005020]
synonym: "STICKLER syndrome, type II" RELATED [MONDO:Lexical, OMIM:604841]
synonym: "Stickler syndrome, vitreous type 2" RELATED [OMIM:604841]
synonym: "STL 2" RELATED [GARD:0005020]
synonym: "STL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604841]
xref: DOID:0080675 {source="MONDO:equivalentTo"}
xref: GARD:5020 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:90654/attributed", source="Orphanet:90654/ntbt", source="Orphanet:90654"}
xref: MEDGEN:347615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537493 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"}
xref: NCIT:C74985 {source="MONDO:equivalentTo"}
xref: OMIM:604841 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"}
xref: Orphanet:828 {source="OMIM:604841"}
xref: Orphanet:90654 {source="OMIM:604841", source="MONDO:equivalentTo"}
xref: UMLS:C1858084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347615"}
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019354 {source="DC-OMIM:604841", source="MONDO:Redundant", source="NCIT:C74985", source="OMIM:604841", source="Orphanet:90654"} ! Stickler syndrome
intersection_of: MONDO:0019354 ! Stickler syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 ! COL11A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2" xsd:anyURI {source="GARD:0005020"}

[Term]
id: MONDO:0011494
name: hyaluronan metabolism, defect 1N
synonym: "hyaluronan metabolism, defect IN" RELATED [OMIM:604855]
synonym: "hyaluronan metabolism, defect type 1N" EXACT [MONDORULE:4, OMIM:604855]
xref: MEDGEN:347614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565742 {source="MONDO:equivalentTo"}
xref: OMIM:604855 {source="MONDO:equivalentTo"}
xref: UMLS:C1858083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347614"}
is_a: MONDO:0003847 {source="MESH:C565742/inferred"} ! hereditary disease
relationship: disease_disrupts GO:0030212 ! hyaluronan metabolic process

[Term]
id: MONDO:0011495
name: obsolete Langerhans-cell histiocytosis
is_obsolete: true
replaced_by: MONDO:0018310

[Term]
id: MONDO:0011496
name: mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
def: "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk." [Orphanet:93279]
subset: gard_rare {source="GARD:16812", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93279"}
subset: orphanet_rare {source="Orphanet:93279"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Namaqualand hip dysplasia" RELATED [OMIM:604864]
synonym: "OSCDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604864]
synonym: "osteoarthritis with mild chondrodysplasia" RELATED [MONDO:Lexical, OMIM:604864]
xref: GARD:16812 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93279", source="Orphanet:93279/attributed", source="Orphanet:93279/ntbt"}
xref: ICD9:755.63 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:609409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565740 {source="MONDO:equivalentTo"}
xref: NANDO:2201352 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:604864 {source="MONDO:equivalentTo", source="Orphanet:93279", source="Orphanet:93279/e"}
xref: Orphanet:93279 {source="OMIM:604864", source="MONDO:equivalentTo"}
xref: SCTID:254064009 {source="MONDO:equivalentTo"}
xref: UMLS:C0432214 {source="MEDGEN:609409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="Orphanet:93279"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:93279", source="PMID:31633310"} ! type 2 collagenopathy
is_a: MONDO:1030002 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! dysplasia of the proximal femoral epiphyses
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011497
name: hereditary North American Indian childhood cirrhosis
def: "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." [Orphanet:168583]
subset: gard_rare {source="GARD:17037", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:168583"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NAIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604901]
synonym: "NORTH American Indian childhood cirrhosis" RELATED [MONDO:Lexical, OMIM:604901]
xref: GARD:17037 {source="MONDO:GARD"}
xref: ICD10CM:K74.6 {source="Orphanet:168583/attributed", source="Orphanet:168583/ntbt", source="Orphanet:168583"}
xref: icd11.foundation:1992710077 {source="MONDO:equivalentTo", source="Orphanet:168583"}
xref: MEDGEN:387974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565737 {source="MONDO:equivalentTo"}
xref: OMIM:604901 {source="Orphanet:168583/e", source="MONDO:equivalentTo", source="Orphanet:168583"}
xref: Orphanet:168583 {source="MONDO:equivalentTo", source="OMIM:604901"}
xref: SCTID:699189004 {source="MONDO:equivalentTo"}
xref: UMLS:C1858051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387974"}
is_a: MONDO:0015762 {source="Orphanet:168583"} ! progressive familial intrahepatic cholestasis
relationship: has_characteristic MONDO:0021152 {source="OMIM:604901"} ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1983 {source="MONDO:mim2gene_medgen"} ! UTP4

[Term]
id: MONDO:0011498
name: schizophrenia 9
def: "A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2." [DOID:0070085]
synonym: "schizophrenia 9" EXACT [MONDO:Lexical, OMIM:604906]
synonym: "schizophrenia 9 with or without an affective disorder" RELATED [OMIM:604906]
synonym: "schizophrenia 9, susceptibility to" EXACT [OMIM:604906, OMIM:genemap2]
synonym: "schizophrenia susceptibility locus, chromosome 1Q42-related" RELATED [OMIM:604906]
synonym: "schizophrenia type 9" EXACT [MONDORULE:1, OMIM:604906]
synonym: "SCZD9" EXACT ABBREVIATION [DOID:0070085, MONDO:Lexical, OMIM:604906]
xref: DOID:0070085 {source="MONDO:equivalentTo"}
xref: MEDGEN:346728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604906 {source="MONDO:equivalentTo", source="DOID:0070085"}
xref: UMLS:C1858050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346728"}
is_a: MONDO:0100182 {source="DC-OMIM:604906", source="DOID:0070085"} ! schizophrenia, susceptibility to
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2888 {source="MONDO:mim2gene_medgen"} ! DISC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011499
name: obsolete Okamoto syndrome
subset: otar {source="MONDO:OTAR"}
xref: GARD:4064 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6335" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014700

[Term]
id: MONDO:0011500
name: Becker nevus syndrome
def: "Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." [https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome]
subset: gard_rare {source="GARD:5901", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64755"}
subset: orphanet_rare {source="Orphanet:64755"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Becker nevus syndrome" EXACT [OMIM:604919]
synonym: "hairy epidermal nevus syndrome" RELATED [GARD:0003856]
synonym: "pigmentary hairy epidermal nevus" EXACT [Orphanet:64755]
xref: GARD:5901 {source="MONDO:GARD"}
xref: ICD10CM:D22.5 {source="Orphanet:64755/attributed", source="Orphanet:64755/ntbt", source="Orphanet:64755"}
xref: MEDGEN:347608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565735 {source="MONDO:equivalentTo"}
xref: OMIM:604919 {source="Orphanet:64755", source="MONDO:equivalentTo", source="Orphanet:64755/e"}
xref: Orphanet:64755 {source="MONDO:equivalentTo", source="OMIM:604919"}
xref: UMLS:C1858042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347608"}
is_a: MONDO:0005073 {source="Orphanet:64755"} ! melanocytic nevus
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0100118 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome" xsd:anyURI {source="GARD:0003856"}

[Term]
id: MONDO:0011501
name: wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
def: "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." [Orphanet:166277]
subset: gard_rare {source="GARD:10290", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166277"}
subset: ordo_malformation_syndrome {source="Orphanet:166277"}
subset: orphanet_rare {source="Orphanet:166277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cortical defects wormian bones and dentinogenesis imperfecta" RELATED [GARD:0010290]
synonym: "cortical defects, WORMIAN bones, and dentinogenesis imperfecta" RELATED [OMIM:604922]
synonym: "Suarez-Stickler syndrome" EXACT [Orphanet:166277]
xref: GARD:10290 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:166277", source="Orphanet:166277/attributed", source="Orphanet:166277/ntbt"}
xref: MEDGEN:387969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565734 {source="MONDO:equivalentTo"}
xref: OMIM:604922 {source="Orphanet:166277", source="MONDO:equivalentTo", source="Orphanet:166277/e", source="GARD:0010290"}
xref: Orphanet:166277 {source="MONDO:equivalentTo", source="OMIM:604922"}
xref: UMLS:C1858032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387969"}
is_a: MONDO:0002081 {source="Orphanet:166277", source="https://orcid.org/0000-0001-5208-3432"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="OMIM:604922"} ! hereditary disease
relationship: disease_has_feature HP:0004349 {source="Orphanet:166277"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0015877 {source="Orphanet:166277", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformative syndrome with dentinogenesis imperfecta
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:166277", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta" xsd:anyURI {source="GARD:0010290"}

[Term]
id: MONDO:0011502
name: Wolfram syndrome 2
def: "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15374", source="MONDO:GARD"}
subset: rare
synonym: "CISD2 Wolfram syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WFS2" EXACT ABBREVIATION [DOID:0110630, MONDO:Lexical, OMIM:604928]
synonym: "WOLFRAM syndrome 2" RELATED [OMIM:604928]
synonym: "Wolfram syndrome 2" EXACT [MONDO:Lexical, OMIM:604928]
synonym: "Wolfram syndrome caused by mutation in CISD2" EXACT [MONDO:design_pattern]
synonym: "Wolfram syndrome type 2" EXACT [DOID:0110630, MONDORULE:1, OMIM:604928]
xref: DOID:0110630 {source="MONDO:equivalentTo"}
xref: GARD:15374 {source="MONDO:GARD"}
xref: ICD10CM:E13.8 {source="DOID:0110630"}
xref: MEDGEN:347604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565733 {source="MONDO:equivalentTo"}
xref: OMIM:604928 {source="MONDO:equivalentTo", source="DOID:0110630"}
xref: Orphanet:3463 {source="OMIM:604928"}
xref: UMLS:C1858028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347604"}
is_a: MONDO:0018105 {source="DC-OMIM:604928", source="DOID:0110630", source="MONDO:Entailed", source="MONDO:Redundant"} ! Wolfram syndrome
intersection_of: MONDO:0018105 ! Wolfram syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24212 ! CISD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24212 {source="MONDO:mim2gene_medgen"} ! CISD2

[Term]
id: MONDO:0011503
name: cortisone reductase deficiency 1
def: "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." [NCIT:C131849]
subset: gard_rare {source="GARD:15375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "apparent cortisone reductase deficiency" EXACT [PMID:21325058]
synonym: "cortisone reductase deficiency 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604931]
synonym: "cortisone reductase deficiency caused by mutation in H6PD" EXACT [MONDO:design_pattern]
synonym: "cortisone reductase deficiency type 1" EXACT [DOID:0090141, MONDORULE:1, NCIT:C131849, OMIM:604931]
synonym: "CORTRD1" EXACT ABBREVIATION [DOID:0090141, MONDO:Lexical, OMIM:604931]
synonym: "H6PD cortisone reductase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hexose-6-phosphate dehydrogenase deficiency" EXACT [NCIT:C131849]
xref: DOID:0090141 {source="MONDO:equivalentTo"}
xref: GARD:15375 {source="MONDO:GARD"}
xref: MEDGEN:764630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131849 {source="DOID:0090141", source="MONDO:equivalentTo"}
xref: OMIM:604931 {source="DOID:0090141", source="MONDO:equivalentTo"}
xref: Orphanet:168588 {source="OMIM:604931"}
xref: UMLS:C3551716 {source="MEDGEN:764630", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000193 {source="DC-OMIM:604931", source="DOID:0090141", source="MONDO:Redundant", source="OMIM:604931", source="Orphanet:168588/btnt"} ! cortisone reductase deficiency
is_a: MONDO:0019052 {source="NCIT:C131849"} ! inborn errors of metabolism
intersection_of: MONDO:0000193 ! cortisone reductase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4795 ! H6PD
relationship: disease_disrupts GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4795 {source="MONDO:mim2gene_medgen"} ! H6PD

[Term]
id: MONDO:0011504
name: NDE1-related microhydranencephaly
def: "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae." [Orphanet:443162]
subset: gard_rare {source="GARD:10216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443162"}
subset: ordo_malformation_syndrome {source="Orphanet:443162"}
subset: orphanet_rare {source="Orphanet:443162"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydranencephaly and microcephaly" RELATED [OMIM:605013]
synonym: "MHAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605013, Orphanet:443162]
synonym: "microhydranencephaly" RELATED [MONDO:Lexical, OMIM:605013]
xref: GARD:10216 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:443162/attributed", source="Orphanet:443162/ntbt", source="Orphanet:443162"}
xref: MEDGEN:341899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537555 {source="MONDO:equivalentTo"}
xref: OMIM:605013 {source="Orphanet:443162/e", source="MONDO:equivalentTo", source="Orphanet:443162"}
xref: Orphanet:1665 {source="OMIM:605013"}
xref: Orphanet:443162 {source="MONDO:equivalentTo"}
xref: UMLS:C1857977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341899"}
is_a: MONDO:0015660 ! sporadic fetal brain disruption sequence
is_a: MONDO:0700116 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly with lissencephaly and/or hydranencephaly
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 {source="MONDO:mim2gene_medgen"} ! NDE1

[Term]
id: MONDO:0011505
name: familial hypobetalipoproteinemia 2
def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ANGPTL3 hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "combined familial hypolipidemia" EXACT [DOID:0111061]
synonym: "familial hypobetalipoproteinemia 2" EXACT CLINGEN_LABEL []
synonym: "familial hypobetalipoproteinemia type 2" EXACT [DOID:0111061, MONDORULE:1]
synonym: "FHBL2" EXACT ABBREVIATION [DOID:0111061, MONDO:Lexical, OMIM:605019]
synonym: "hypobetalipoproteinemia caused by mutation in ANGPTL3" EXACT [MONDO:design_pattern]
synonym: "hypobetalipoproteinemia, familial, 2" RELATED [MONDO:Lexical, OMIM:605019]
synonym: "hypobetalipoproteinemia, familial, type 2" EXACT [MONDORULE:1, OMIM:605019]
synonym: "hypolipidemia, familial, combined" RELATED [OMIM:605019]
xref: DOID:0111061 {source="MONDO:equivalentTo"}
xref: GARD:15376 {source="MONDO:GARD"}
xref: MEDGEN:341895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565732 {source="MONDO:equivalentTo"}
xref: OMIM:605019 {source="DOID:0111061", source="MONDO:equivalentTo"}
xref: Orphanet:426 {source="OMIM:605019"}
xref: UMLS:C1857970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341895"}
is_a: MONDO:0017774 {source="DC-OMIM:605019", source="DOID:0111061", source="MESH:C565732", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypobetalipoproteinemia
intersection_of: MONDO:0017774 ! hypobetalipoproteinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/491 ! ANGPTL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/491 {source="MONDO:mim2gene_medgen"} ! ANGPTL3

[Term]
id: MONDO:0011506
name: familial infantile myoclonic epilepsy
subset: gard_rare {source="GARD:17521", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352582"}
subset: orphanet_rare {source="Orphanet:352582"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Eim" RELATED [OMIM:605021]
synonym: "familial infantile myoclonus epilepsy" EXACT [Orphanet:352582]
synonym: "FIME" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605021, Orphanet:352582]
synonym: "myoclonic epilepsy, familial infantile" RELATED [MONDO:Lexical, OMIM:605021]
synonym: "myoclonic epilepsy, infantile, familial" EXACT [OMIM:605021, OMIM:genemap2]
xref: GARD:17521 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:352582", source="Orphanet:352582/attributed", source="Orphanet:352582/ntbt"}
xref: MEDGEN:181488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605021 {source="Orphanet:352582", source="MONDO:equivalentTo", source="Orphanet:352582/e"}
xref: Orphanet:352582 {source="MONDO:equivalentTo", source="OMIM:605021"}
xref: UMLS:C0917800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181488"}
is_a: MONDO:0015653 {source="Orphanet:352582"} ! monogenic epilepsy
is_a: MONDO:0016022 {source="DC-OMIM:605021"} ! early myoclonic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011507
name: diabetes mellitus, congenital autoimmune
synonym: "diabetes mellitus, congenital autoimmune" EXACT [OMIM:605026]
xref: MEDGEN:347586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565730 {source="MONDO:equivalentTo"}
xref: OMIM:605026 {source="MONDO:equivalentTo"}
xref: UMLS:C1857958 {source="MEDGEN:347586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011508
name: lymphoma, non-Hodgkin, familial
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoma, follicular, somatic" EXACT [OMIM:605027, OMIM:genemap2]
synonym: "lymphoma, non-Hodgkin" EXACT [OMIM:605027, OMIM:genemap2]
synonym: "lymphoma, non-Hodgkin, familial" EXACT [OMIM:605027]
synonym: "lymphoma, non-Hodgkin, somatic" EXACT [OMIM:605027, OMIM:genemap2]
synonym: "non-Hodgkin lymphoma" RELATED [OMIM:605027]
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1648388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605027 {source="MONDO:equivalentTo"}
xref: Orphanet:547 {source="OMIM:605027"}
xref: SCTID:118601006 {source="MONDO:equivalentTo"}
xref: UMLS:C4721532 {source="MEDGEN:1648388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018908 {source="Orphanet:547/btnt"} ! non-Hodgkin lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011509
name: low density lipoprotein cholesterol, mild elevation of
synonym: "Ldlc, mild elevation of" RELATED [OMIM:605028]
synonym: "low density lipoprotein cholesterol, mild elevation of" EXACT [OMIM:605028]
xref: MEDGEN:347585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605028 {source="MONDO:equivalentTo"}
xref: UMLS:C1857956 {source="MEDGEN:347585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011510
name: Bohring-Opitz syndrome
def: "Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." [Orphanet:97297]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1981"}
subset: ordo_disorder {source="Orphanet:97297"}
subset: ordo_malformation_syndrome {source="Orphanet:97297"}
subset: orphanet_rare {source="Orphanet:97297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bohring syndrome" EXACT [OMIM:605039, Orphanet:97297]
synonym: "BOHRING-Opitz syndrome" RELATED [OMIM:605039]
synonym: "Bohring-Opitz syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605039]
synonym: "BOPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605039]
synonym: "Bos syndrome" EXACT [Orphanet:97297]
synonym: "C-like syndrome" EXACT [OMIM:605039, Orphanet:97297]
synonym: "Oberklaid-Danks syndrome" EXACT [Orphanet:97297]
synonym: "Opitz trigonocephaly-like syndrome" EXACT [OMIM:605039, Orphanet:97297]
xref: GARD:10140 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:97297/attributed", source="Orphanet:97297/ntbt", source="Orphanet:97297"}
xref: MEDGEN:208678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537419 {source="MONDO:equivalentTo"}
xref: NCIT:C131533 {source="MONDO:equivalentTo"}
xref: NORD:1981 {source="MONDO:NORD"}
xref: OMIM:605039 {source="Orphanet:97297/e", source="MONDO:equivalentTo", source="Orphanet:97297"}
xref: Orphanet:97297 {source="OMIM:605039", source="MONDO:equivalentTo"}
xref: SCTID:720565000 {source="MONDO:equivalentTo"}
xref: UMLS:C0796232 {source="MEDGEN:208678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:97297", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131533"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:97297"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18318 {source="MONDO:mim2gene_medgen"} ! ASXL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome" xsd:anyURI {source="GARD:0010140"}

[Term]
id: MONDO:0011511
name: clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia
synonym: "Chzam" RELATED [OMIM:605040]
synonym: "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" EXACT [OMIM:605040]
xref: MEDGEN:387951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565729 {source="MONDO:equivalentTo"}
xref: OMIM:605040 {source="MONDO:equivalentTo"}
xref: UMLS:C1857942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387951"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011512
name: Brooke-Spiegler syndrome
def: "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." [Orphanet:79493]
comment: Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163).
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10179", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79493"}
subset: orphanet_rare {source="Orphanet:79493"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brooke-Spiegler syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605041]
synonym: "BRSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605041]
synonym: "Bss" RELATED [OMIM:605041]
synonym: "CYLD cutaneous syndrome" EXACT [Orphanet:79493]
synonym: "Spiegler-Brooke syndrome" RELATED [OMIM:605041]
xref: DOID:0050693 {source="MONDO:equivalentTo"}
xref: GARD:10179 {source="MONDO:GARD"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:346703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536611 {source="Orphanet:79493", source="Orphanet:79493/e"}
xref: OMIM:605041 {source="DOID:0050693", source="MONDO:equivalentTo", source="Orphanet:79493", source="Orphanet:79493/e"}
xref: Orphanet:79493 {source="MONDO:equivalentTo", source="OMIM:605041"}
xref: SCTID:703531009 {source="MONDO:equivalentTo"}
xref: UMLS:C1857941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346703"}
is_a: MONDO:0000426 {source="DOID:0050693", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79493", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:605041", source="Orphanet:79493"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2584 {source="MONDO:mim2gene_medgen"} ! CYLD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0011513
name: Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology
subset: gard_rare {source="GARD:16508", source="MONDO:GARD"}
subset: rare
synonym: "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" EXACT [OMIM:605055]
xref: GARD:16508 {source="MONDO:GARD"}
xref: MEDGEN:341884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565728 {source="MONDO:equivalentTo"}
xref: OMIM:605055 {source="MONDO:equivalentTo"}
xref: Orphanet:1020 {source="OMIM:605055"}
xref: UMLS:C1857933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341884"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0011514
name: tricuspid atresia
def: "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)." [Orphanet:1209]
subset: gard_rare {source="GARD:5274", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1209"}
subset: ordo_morphological_anomaly {source="Orphanet:1209"}
subset: orphanet_rare {source="Orphanet:1209"}
subset: rare
synonym: "congenital agenesis of the tricuspid valve" RELATED [GARD:0005274]
synonym: "congenital atresia of tricuspid valve" EXACT [NCIT:C85202]
synonym: "tricuspid atresia" EXACT [MONDO:ambiguous, OMIM:605067]
synonym: "tricuspid atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "tricuspid valve atresia" EXACT [NCIT:C85202]
xref: DOID:0080169 {source="MONDO:equivalentTo"}
xref: GARD:5274 {source="MONDO:GARD"}
xref: HP:0011662 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q22.4 {source="Orphanet:1209/ntbt", source="MONDO:directSiblingOf", source="Orphanet:1209"}
xref: icd11.foundation:845891723 {source="MONDO:equivalentTo", source="Orphanet:1209"}
xref: MedDRA:10049767 {source="Orphanet:1209/e", source="Orphanet:1209"}
xref: MEDGEN:67034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018785 {source="Orphanet:1209/e", source="MONDO:equivalentTo", source="Orphanet:1209"}
xref: NANDO:1200706 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200962 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100073 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200251 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85202 {source="MONDO:equivalentTo"}
xref: OMIM:605067 {source="Orphanet:1209/e", source="DOID:0080169", source="MONDO:equivalentTo", source="Orphanet:1209"}
xref: Orphanet:1209 {source="MONDO:equivalentTo", source="OMIM:605067"}
xref: SCTID:63042009 {source="MONDO:equivalentTo"}
xref: UMLS:C0243002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67034"}
is_a: MONDO:0000471 {source="DOID:0080169", source="NCIT:C85202"} ! tricuspid valve disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005453 {source="MESH:D018785", source="NCIT:C85202"} ! congenital heart disease
is_a: MONDO:0020289 {source="Orphanet:1209"} ! congenital tricuspid malformation
property_value: IAO:0000589 "tricuspid atresia (disease)" xsd:string

[Term]
id: MONDO:0011515
name: obsolete papillary renal cell carcinoma
is_obsolete: true
replaced_by: MONDO:0017884

[Term]
id: MONDO:0011516
name: early response to neural induction gene
synonym: "early response to neural induction gene" EXACT [OMIM:605105]
synonym: "Erni" RELATED [OMIM:605105]
xref: MEDGEN:344332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605105 {source="MONDO:equivalentTo"}
xref: UMLS:C1854633 {source="MEDGEN:344332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011517
name: pseudohyperaldosteronism type 2
def: "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." [Orphanet:88660]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:19093", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88660"}
subset: orphanet_rare {source="Orphanet:88660"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset hypertension with exacerbation in pregnancy" EXACT [Orphanet:88660]
synonym: "hypertension due to gain-of-function mutations in the mineralocorticoid receptor" EXACT [Orphanet:88660]
synonym: "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" EXACT [OMIM:605115, OMIM:genemap2]
synonym: "hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy" RELATED [OMIM:605115]
synonym: "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy" RELATED [OMIM:605115]
xref: GARD:19093 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:88660/attributed", source="Orphanet:88660/ntbt", source="Orphanet:88660"}
xref: MEDGEN:343170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565359 {source="MONDO:equivalentTo"}
xref: OMIM:605115 {source="Orphanet:88660/e", source="MONDO:equivalentTo", source="Orphanet:88660"}
xref: Orphanet:88660 {source="OMIM:605115", source="MONDO:equivalentTo"}
xref: SCTID:766937004 {source="MONDO:equivalentTo"}
xref: UMLS:C1854631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343170"}
is_a: MONDO:0024575 {source="Orphanet:88660"} ! pregnancy disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7979 {source="MONDO:mim2gene_medgen"} ! NR3C2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011518
name: Wiedemann-Steiner syndrome
def: "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." [https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5565", source="MONDO:GARD"}
subset: nord_rare {source="NORD:150898", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319182"}
subset: ordo_malformation_syndrome {source="Orphanet:319182"}
subset: orphanet_rare {source="Orphanet:319182"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "A syndrome of abnormal facies, short stature, and psychomotor retardation" RELATED [GARD:0005565]
synonym: "hairy elbows, short stature, Facial Dysmorphism, and developmental delay" RELATED [OMIM:605130]
synonym: "hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:319182]
synonym: "WDSTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605130]
synonym: "Wiedemann Grosse Dibbern syndrome" RELATED [GARD:0005565]
synonym: "Wiedemann-Steiner syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605130]
xref: GARD:5565 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:319182/attributed", source="Orphanet:319182/ntbt", source="Orphanet:319182"}
xref: MEDGEN:340266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536704 {source="MONDO:equivalentTo"}
xref: NORD:150898 {source="MONDO:NORD"}
xref: OMIM:605130 {source="Orphanet:319182", source="MONDO:equivalentTo", source="Orphanet:319182/e"}
xref: Orphanet:319182 {source="MONDO:equivalentTo", source="OMIM:605130"}
xref: UMLS:C1854630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340266"}
is_a: MONDO:0015159 {source="Orphanet:319182"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:319182", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7132 {source="MONDO:mim2gene_medgen"} ! KMT2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome" xsd:anyURI {source="GARD:0005565"}

[Term]
id: MONDO:0011519
name: autosomal dominant nonsyndromic hearing loss 23
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:1708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 23" NARROW [DOID:0110553]
synonym: "autosomal dominant nonsyndromic deafness 23" NARROW [OMIM:605192]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SIX1" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 23" NARROW [DOID:0110553, MONDORULE:2]
synonym: "deafness, autosomal dominant 23" NARROW [MONDO:Lexical, OMIM:605192, OMIM:genemap2]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 23" NARROW [GARD:0001708]
synonym: "deafness, autosomal dominant type 23" NARROW [MONDORULE:2, OMIM:605192]
synonym: "DFNA 23" NARROW [GARD:0001708]
synonym: "DFNA23" NARROW ABBREVIATION [DOID:0110553, MONDO:Lexical, OMIM:605192]
synonym: "SIX1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110553 {source="MONDO:equivalentTo"}
xref: GARD:1708 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110553"}
xref: MEDGEN:343162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565357 {source="MONDO:equivalentTo"}
xref: OMIM:605192 {source="MONDO:equivalentTo", source="DOID:0110553"}
xref: UMLS:C1854594 {source="MEDGEN:343162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:605192", source="DOID:0110553", source="MONDO:Redundant", source="OMIM:605192"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 ! SIX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 {source="MONDO:mim2gene_medgen"} ! SIX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011520
name: systemic lupus erythematosus, susceptibility to, 2
subset: predisposition
synonym: "SLEB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605218]
synonym: "susceptibility to systemic lupus erythematosus 2" EXACT [OMIM:605218]
synonym: "systemic lupus erythematosus, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:605218]
synonym: "systemic lupus erythematosus, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:605218]
xref: MEDGEN:343159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605218 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:605218"}
xref: UMLS:C1854577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343159"}
is_a: MONDO:0020573 {source="OMIM:605218"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0011521
name: inflammatory bowel disease 7
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36." [DOID:0110882, PMID:19122664]
synonym: "IBD7" EXACT ABBREVIATION [DOID:0110882, MONDO:Lexical, OMIM:605225]
synonym: "inflammatory bowel disease 7" EXACT [MONDO:Lexical, OMIM:605225]
synonym: "inflammatory bowel disease type 7" EXACT [DOID:0110882, MONDORULE:1]
xref: DOID:0110882 {source="MONDO:equivalentTo"}
xref: MEDGEN:381452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565353 {source="MONDO:equivalentTo"}
xref: OMIM:605225 {source="MONDO:equivalentTo", source="DOID:0110882"}
xref: Orphanet:206 {source="OMIM:605225"}
xref: Orphanet:771 {source="OMIM:605225"}
xref: UMLS:C1854573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381452"}
is_a: MONDO:0005265 {source="DC-OMIM:605225", source="DOID:0110882", source="MESH:C565353", source="OMIM:605225"} ! inflammatory bowel disease

[Term]
id: MONDO:0011522
name: hereditary spastic paraplegia 14
def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28." [DOID:0110767, PMID:10877981]
subset: gard_rare {source="GARD:9589", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:100995"}
subset: orphanet_rare {source="Orphanet:100995"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 14" EXACT [DOID:0110767]
synonym: "autosomal recessive spastic paraplegia type 14" EXACT [DOID:0110767]
synonym: "hereditary spastic paraplegia type 14" EXACT [DOID:0110767, MONDORULE:2]
synonym: "spastic paraplegia 14" EXACT [GARD:0009589]
synonym: "spastic paraplegia 14, autosomal recessive" EXACT [MONDO:Lexical, OMIM:605229]
synonym: "SPG14" EXACT ABBREVIATION [DOID:0110767, MONDO:Lexical, OMIM:605229, Orphanet:100995]
xref: DOID:0110767 {source="MONDO:equivalentTo"}
xref: GARD:9589 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110767", source="Orphanet:100995", source="Orphanet:100995/attributed", source="Orphanet:100995/ntbt"}
xref: MEDGEN:343157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537486 {source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"}
xref: OMIM:605229 {source="DOID:0110767", source="MONDO:equivalentTo", source="Orphanet:100995", source="Orphanet:100995/e"}
xref: Orphanet:100995 {source="DOID:0110767", source="OMIM:605229", source="MONDO:equivalentTo"}
xref: UMLS:C1854568 {source="MONDO:equivalentTo", source="MEDGEN:343157", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110767", source="MESH:C537486", source="MONDO:Redundant", source="OMIM:605229", source="Orphanet:100995/inferred"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0011523
name: Bardet-Biedl syndrome 6
subset: gard_rare {source="GARD:10205", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 6" EXACT [MONDO:Lexical, OMIM:605231]
synonym: "Bardet-Biedl syndrome type 6" EXACT [DOID:0110128, MONDORULE:1, OMIM:605231]
synonym: "BBS6" EXACT ABBREVIATION [DOID:0110128, MONDO:Lexical, OMIM:605231]
xref: DOID:0110128 {source="MONDO:equivalentTo"}
xref: GARD:10205 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110128"}
xref: MEDGEN:347610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565738 {source="MONDO:equivalentTo"}
xref: OMIM:605231 {source="DOID:0110128", source="MONDO:equivalentTo"}
xref: Orphanet:110 {source="OMIM:605231"}
xref: UMLS:C1858054 {source="MEDGEN:347610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:605231", source="DOID:0110128", source="MESH:C565738", source="OMIM:605231"} ! Bardet-Biedl syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:605231"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7108 {source="MONDO:mim2gene_medgen"} ! MKKS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6" xsd:anyURI {source="GARD:0010205"}

[Term]
id: MONDO:0011524
name: Dianzani autoimmune lymphoproliferative disease
def: "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." [Orphanet:275523]
subset: gard_rare {source="GARD:9797", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:275523"}
subset: orphanet_rare {source="Orphanet:275523"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autoimmune lymphoproliferative syndrome without FAS mutations" EXACT [GARD:0009797]
synonym: "DALD" EXACT ABBREVIATION [OMIM:605233, Orphanet:275523]
synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT [OMIM:605233]
synonym: "Dianzani autoimmune lymphoproliferative syndrome" EXACT [GARD:0009797]
synonym: "Dianzani form of autoimmune lymphoproliferative disease" EXACT [GARD:0009797]
xref: GARD:9797 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="Orphanet:275523", source="Orphanet:275523/attributed", source="Orphanet:275523/ntbt"}
xref: MEDGEN:418980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535950 {source="MONDO:equivalentTo"}
xref: OMIM:605233 {source="MONDO:equivalentTo", source="Orphanet:275523", source="Orphanet:275523/e"}
xref: Orphanet:275523 {source="MONDO:equivalentTo", source="OMIM:605233"}
xref: SCTID:721093000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418980"}
is_a: MONDO:0016537 {source="MESH:C535950/inferred", source="Orphanet:275523"} ! lymphoproliferative syndrome

[Term]
id: MONDO:0011525
name: Carney complex type 2
subset: gard_rare {source="GARD:15377", source="MONDO:GARD"}
subset: rare
synonym: "Carney complex, type 2" EXACT [MONDO:Lexical, OMIM:605244]
synonym: "Carney complex, type II" EXACT [OMIM:605244, OMIM:genemap2]
synonym: "Carney Myxoma-endocrine Complex, type 2" EXACT [OMIM:605244]
synonym: "CNC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605244]
xref: GARD:15377 {source="MONDO:GARD"}
xref: MEDGEN:340253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605244 {source="MONDO:equivalentTo"}
xref: Orphanet:1359 {source="OMIM:605244"}
xref: UMLS:C1854540 {source="MONDO:equivalentTo", source="MEDGEN:340253", source="MONDO:MEDGEN"}
is_a: MONDO:0015285 {source="DC-OMIM:605244"} ! Carney complex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011526
name: obsolete Sebastian syndrome
xref: NCIT:C131650 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0007954

[Term]
id: MONDO:0011527
name: Charcot-Marie-Tooth disease type 4E
def: "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." [Orphanet:99951]
comment: Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. {source="OMIM:605253"}
subset: gard_rare {source="GARD:9203", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1506", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99951"}
subset: orphanet_rare {source="Orphanet:99951"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive congenital hypomyelinating neuropathy" EXACT [GARD:0006170, Orphanet:99951]
synonym: "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT [DOID:0110195]
synonym: "Charcot Marie Tooth disease type 4E" RELATED [GARD:0009203]
synonym: "Charcot-Marie-Tooth disease type 4E" EXACT [GARD:0006170]
synonym: "Charcot-Marie-Tooth disease, type 4E" RELATED [OMIM:605253]
synonym: "Charcot-Marie-Tooth neuropathy type 4E" EXACT [DOID:0110195]
synonym: "Charcot-Marie-Tooth neuropathy, type 4E" RELATED [OMIM:605253]
synonym: "CHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605253]
synonym: "CHN1" RELATED ABBREVIATION [OMIM:605253]
synonym: "CMT 4E" RELATED [GARD:0009203]
synonym: "CMT4E" EXACT ABBREVIATION [DOID:0110195, GARD:0006170, Orphanet:99951]
synonym: "congenital hypomyelinating neuropathy (CHN)" RELATED [GARD:0009203]
synonym: "congenital hypomyelination neuropathy" RELATED [GARD:0006170]
synonym: "hypomyelinating neuropathy, congenital, 1" EXACT [OMIM:605253, OMIM:genemap2]
synonym: "hypomyelination, Severe congenital" RELATED [OMIM:605253]
synonym: "neuropathy, congenital hypomyelinating" RELATED [GARD:0009203]
synonym: "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive" RELATED [MONDO:Lexical, OMIM:605253]
synonym: "neuropathy, congenital hypomyelinating, 1" EXACT [DOID:0110195]
synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE" RELATED [OMIM:605253]
synonym: "neuropathy, congenital hypomyelinating, autosomal dominant" RELATED [OMIM:605253]
synonym: "Neuropathy, Congenital Hypomyelination" EXACT [NORD:1506]
xref: DOID:0110195 {source="MONDO:equivalentTo"}
xref: GARD:9203 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99951", source="Orphanet:99951/attributed", source="Orphanet:99951/ntbt", source="DOID:0110195"}
xref: MEDGEN:1648303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535301 {source="Orphanet:99951", source="MONDO:equivalentTo", source="Orphanet:99951/e"}
xref: NORD:1506 {source="MONDO:NORD"}
xref: OMIM:605253 {source="Orphanet:99951", source="GARD:0006170", source="MONDO:equivalentTo", source="Orphanet:99951/e", source="DOID:0110195"}
xref: Orphanet:99951 {source="GARD:0006170", source="MONDO:equivalentTo", source="DOID:0110195", source="OMIM:605253"}
xref: SCTID:763135001 {source="MONDO:equivalentTo"}
xref: UMLS:C4721436 {source="MONDO:equivalentTo", source="MEDGEN:1648303", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110195/inferred", source="MESH:C535301", source="MONDO:Redundant", source="OMIM:605253", source="Orphanet:99951/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110195", source="Orphanet:99951"} ! Charcot-Marie-Tooth disease type 4
is_a: MONDO:0033352 {source="OMIM:605253"} ! neuropathy, congenital hypomelinating
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy" xsd:anyURI {source="GARD:0006170"}

[Term]
id: MONDO:0011528
name: hyper-IgM syndrome type 2
def: "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers." [Wikipedia:Hyper-IgM_syndrome_type_2]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101089"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Activation-induced cytidine deaminase deficiency" EXACT [Orphanet:101089]
synonym: "activation-induced cytidine deaminase deficiency" EXACT [DOID:0060758]
synonym: "AICDA hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "aid deficiency" EXACT [DOID:0060758, Orphanet:101089]
synonym: "HIGM2" EXACT ABBREVIATION [DOID:0060758, MONDO:Lexical, OMIM:605258, Orphanet:101089]
synonym: "hyper IgM syndrome 2" RELATED [GARD:0010578]
synonym: "hyper-IgM syndrome 2" RELATED [OMIM:605258]
synonym: "hyper-IgM syndrome caused by mutation in AICDA" EXACT [MONDO:design_pattern]
synonym: "hyper-IgM syndrome type 2" EXACT CLINGEN_LABEL [DOID:0060758]
synonym: "immunodeficiency with hyper IgM type 2" RELATED [GARD:0010578]
synonym: "immunodeficiency with hyper-IgM type 2" RELATED [DOID:0060758]
synonym: "immunodeficiency with hyper-IgM, type 2" RELATED [MONDO:Lexical, OMIM:605258]
xref: DOID:0060758 {source="MONDO:equivalentTo"}
xref: GARD:10578 {source="MONDO:GARD"}
xref: ICD10CM:D80.5 {source="Orphanet:101089", source="Orphanet:101089/attributed", source="Orphanet:101089/ntbt", source="DOID:0060758"}
xref: MEDGEN:354548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129074 {source="MONDO:equivalentTo"}
xref: OMIM:605258 {source="Orphanet:101089", source="MONDO:equivalentTo", source="Orphanet:101089/e", source="DOID:0060758"}
xref: Orphanet:101089 {source="OMIM:605258", source="MONDO:equivalentTo", source="DOID:0060758"}
xref: Orphanet:183666 {source="OMIM:605258", source="DOID:0060758"}
xref: SCTID:403836001 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C1720956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354548"}
is_a: MONDO:0003947 {source="MONDO:Redundant", source="OMIM:605258"} ! hyper-IgM syndrome
intersection_of: MONDO:0003947 ! hyper-IgM syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13203 ! AICDA
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13203 {source="MONDO:mim2gene_medgen"} ! AICDA
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2" xsd:anyURI {source="GARD:0010578"}

[Term]
id: MONDO:0011529
name: spinocerebellar ataxia type 13
def: "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." [Orphanet:98768]
subset: gard_rare {source="GARD:9611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98768"}
subset: orphanet_rare {source="Orphanet:98768"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant cerebellar ataxia with intellectual disability" RELATED [GARD:0009611]
synonym: "autosomal dominant cerebellar ataxia with mental retardation" RELATED DEPRECATED [GARD:0009611]
synonym: "cerebellar ataxia, autosomal dominant with intellectual disability" RELATED [GARD:0009611]
synonym: "cerebellar ataxia, autosomal dominant with mental retardation" RELATED DEPRECATED [GARD:0009611]
synonym: "SCA13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605259, Orphanet:98768]
synonym: "spinocerebellar ataxia 13" RELATED [MONDO:Lexical, OMIM:605259]
synonym: "spinocerebellar ataxia type 13" EXACT [MONDORULE:2, OMIM:605259]
xref: DOID:0050963 {source="MONDO:equivalentTo"}
xref: GARD:9611 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98768", source="Orphanet:98768/attributed", source="Orphanet:98768/ntbt"}
xref: MEDGEN:344297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537195 {source="MONDO:equivalentTo", source="Orphanet:98768", source="Orphanet:98768/e"}
xref: OMIM:605259 {source="MONDO:equivalentTo", source="DOID:0050963", source="Orphanet:98768", source="Orphanet:98768/e"}
xref: Orphanet:98768 {source="OMIM:605259", source="MONDO:equivalentTo"}
xref: SCTID:719209002 {source="MONDO:equivalentTo"}
xref: UMLS:C1854488 {source="MEDGEN:344297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:98768"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6235 {source="MONDO:mim2gene_medgen"} ! KCNC3

[Term]
id: MONDO:0011530
name: mesomelic dysplasia, Savarirayan type
def: "Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." [Orphanet:85170]
subset: gard_rare {source="GARD:10584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85170"}
subset: ordo_malformation_syndrome {source="Orphanet:85170"}
subset: orphanet_rare {source="Orphanet:85170"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mesomelic dysplasia Savarirayan type" RELATED [GARD:0010584]
synonym: "mesomelic dysplasia with absent fibulas and triangular tibias" EXACT [OMIM:605274, Orphanet:85170]
synonym: "mesomelic dysplasia, Savarirayan type" EXACT [OMIM:605274]
synonym: "triangular tibia and fibular aplasia" RELATED [GARD:0010584]
synonym: "triangular tibia-fibular aplasia syndrome" EXACT [Orphanet:85170]
xref: GARD:10584 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:85170", source="Orphanet:85170/attributed", source="Orphanet:85170/ntbt"}
xref: MEDGEN:343129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565349 {source="MONDO:equivalentTo"}
xref: OMIM:605274 {source="MONDO:equivalentTo", source="Orphanet:85170", source="Orphanet:85170/e"}
xref: Orphanet:85170 {source="MONDO:equivalentTo", source="OMIM:605274"}
xref: SCTID:715652002 {source="MONDO:equivalentTo"}
xref: UMLS:C1854470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343129"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:26032025", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0023599 {source="PMID:26032025", source="https://orcid.org/0009-0001-6494-4831"} ! mesomelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type" xsd:anyURI {source="GARD:0010584"}

[Term]
id: MONDO:0011531
name: Noonan syndrome 2
subset: gard_rare {source="GARD:10698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive Noonan syndrome" RELATED [GARD:0010698]
synonym: "Noonan syndrome 2" EXACT [MONDO:Lexical, OMIM:605275]
synonym: "Noonan syndrome autosomal recessive" RELATED [GARD:0010698]
synonym: "Noonan syndrome type 2" EXACT [DOID:0060580, MONDORULE:1, OMIM:605275]
synonym: "Noonan syndrome, autosomal recessive" RELATED [OMIM:605275]
synonym: "NS2" EXACT ABBREVIATION [DOID:0060580, MONDO:Lexical, OMIM:605275]
xref: DOID:0060580 {source="MONDO:equivalentTo"}
xref: GARD:10698 {source="MONDO:GARD"}
xref: MEDGEN:344290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548081 {source="MONDO:equivalentTo"}
xref: NCIT:C176930 {source="MONDO:equivalentTo"}
xref: OMIM:605275 {source="MONDO:equivalentTo", source="DOID:0060580"}
xref: Orphanet:648 {source="OMIM:605275"}
xref: UMLS:C1854469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344290"}
is_a: MONDO:0018997 {source="DC-OMIM:605275", source="DOID:0060580", source="MESH:C548081", source="OMIM:605275"} ! Noonan syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10698/noonan-syndrome-2" xsd:anyURI {source="GARD:0010698"}

[Term]
id: MONDO:0011532
name: hereditary spastic paraplegia 13
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100994"}
subset: orphanet_rare {source="Orphanet:100994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 13" EXACT [DOID:0110766]
synonym: "autosomal dominant spastic paraplegia type 13" RELATED [Orphanet:100994]
synonym: "hereditary spastic paraplegia caused by mutation in HSPD1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 13" EXACT [DOID:0110766, MONDORULE:2]
synonym: "HSPD1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 13" RELATED [GARD:0009616]
synonym: "spastic paraplegia 13, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605280]
synonym: "SPG13" EXACT ABBREVIATION [DOID:0110766, MONDO:Lexical, OMIM:605280, Orphanet:100994]
xref: DOID:0110766 {source="MONDO:equivalentTo"}
xref: GARD:9616 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:100994/attributed", source="Orphanet:100994/ntbt", source="DOID:0110766", source="Orphanet:100994"}
xref: MEDGEN:344289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537485 {source="Orphanet:100994", source="MONDO:equivalentTo", source="Orphanet:100994/e"}
xref: OMIM:605280 {source="DOID:0110766", source="Orphanet:100994", source="MONDO:equivalentTo", source="Orphanet:100994/e"}
xref: Orphanet:100994 {source="DOID:0110766", source="MONDO:equivalentTo", source="OMIM:605280"}
xref: UMLS:C1854467 {source="MEDGEN:344289", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110766", source="MESH:C537485", source="MONDO:Redundant", source="OMIM:605280", source="Orphanet:100994/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5261 ! HSPD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5261 {source="MONDO:mim2gene_medgen"} ! HSPD1

[Term]
id: MONDO:0011533
name: temtamy preaxial brachydactyly syndrome
def: "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." [DOID:0050814, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, http://www.sciencedirect.com/science/article/pii/S1769721213002449, PMID:21129728]
subset: gard_rare {source="GARD:9679", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363417"}
subset: ordo_malformation_syndrome {source="Orphanet:363417"}
subset: orphanet_rare {source="Orphanet:363417"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED [GARD:0009679]
synonym: "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED DEPRECATED [GARD:0009679]
synonym: "preaxial brachydactyly syndrome, TEMTAMY type" EXACT [DOID:0050814]
synonym: "preaxial brachydactyly syndrome, Temtamy type" RELATED [OMIM:605282]
synonym: "TEMTAMY preaxial brachydactyly syndrome" RELATED [OMIM:605282]
synonym: "temtamy preaxial brachydactyly syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605282]
synonym: "TPBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605282]
xref: DOID:0050814 {source="MONDO:equivalentTo"}
xref: GARD:9679 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:363417/attributed", source="Orphanet:363417/ntbt", source="Orphanet:363417"}
xref: MEDGEN:381425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536958 {source="MONDO:equivalentTo"}
xref: OMIM:605282 {source="Orphanet:363417/e", source="MONDO:equivalentTo", source="DOID:0050814", source="Orphanet:363417"}
xref: Orphanet:363417 {source="MONDO:equivalentTo", source="OMIM:605282"}
xref: UMLS:C1854466 {source="MEDGEN:381425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0006025 {source="DOID:0050814", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:605282", source="Orphanet:363417"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17198 {source="MONDO:mim2gene_medgen"} ! CHSY1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome" xsd:anyURI {source="GARD:0009679"}

[Term]
id: MONDO:0011534
name: Charcot-Marie-Tooth disease type 4G
def: "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." [Orphanet:99953]
subset: gard_rare {source="GARD:10132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99953"}
subset: orphanet_rare {source="Orphanet:99953"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4G" EXACT [DOID:0110196]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4G" RELATED [OMIM:605285]
synonym: "Charcot-Marie-Tooth disease, type 4G" RELATED [OMIM:605285]
synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT [DOID:0110196]
synonym: "Charcot-Marie-Tooth neuropathy, type 4G" RELATED [OMIM:605285]
synonym: "CMT4G" EXACT ABBREVIATION [DOID:0110196, Orphanet:99953]
synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [DOID:0110196]
synonym: "hereditary motor and sensory neuropathy, Russe type" EXACT [OMIM:605285, Orphanet:99953]
synonym: "HK1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HMSNR" EXACT ABBREVIATION [DOID:0110196, MONDO:Lexical, OMIM:605285, Orphanet:99953]
synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:Lexical, OMIM:605285]
xref: DOID:0110196 {source="MONDO:equivalentTo"}
xref: GARD:10132 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99953", source="Orphanet:99953/attributed", source="Orphanet:99953/ntbt", source="DOID:0110196"}
xref: MEDGEN:343122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535813 {source="MONDO:equivalentTo"}
xref: OMIM:605285 {source="Orphanet:99953", source="MONDO:equivalentTo", source="DOID:0110196", source="Orphanet:99953/e"}
xref: Orphanet:99953 {source="MONDO:equivalentTo", source="DOID:0110196", source="OMIM:605285"}
xref: SCTID:715799004 {source="MONDO:equivalentTo"}
xref: UMLS:C1854449 {source="MEDGEN:343122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002316 {source="DC-OMIM:605285"} ! motor peripheral neuropathy
is_a: MONDO:0015626 {source="DOID:0110196/inferred", source="MONDO:Redundant", source="OMIM:605285", source="Orphanet:99953/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
is_a: MONDO:0018995 {source="DOID:0110196", source="MONDO:Redundant", source="Orphanet:99953"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4922 ! HK1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4922 {source="MONDO:mim2gene_medgen"} ! HK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0011535
name: split hand-foot malformation 4
def: "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SHFM4" EXACT ABBREVIATION [DOID:0090023, MONDO:Lexical, OMIM:605289]
synonym: "split hand-foot malformation caused by mutation in TP63" EXACT [MONDO:design_pattern]
synonym: "split hand-foot malformation type 4" EXACT [DOID:0090023, MONDORULE:1]
synonym: "split-hand/foot malformation 4" RELATED [MONDO:Lexical, OMIM:605289]
synonym: "split-hand/foot malformation type 4" EXACT [MONDORULE:1, OMIM:605289]
synonym: "TP63 split hand-foot malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090023 {source="MONDO:equivalentTo"}
xref: GARD:15378 {source="MONDO:GARD"}
xref: ICD10CM:Q71.6 {source="DOID:0090023"}
xref: MEDGEN:343120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565344 {source="MONDO:equivalentTo"}
xref: OMIM:605289 {source="DOID:0090023", source="MONDO:equivalentTo"}
xref: Orphanet:2440 {source="DOID:0090023", source="OMIM:605289"}
xref: UMLS:C1854442 {source="MEDGEN:343120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016576 {source="DOID:0090023", source="MONDO:Redundant", source="OMIM:605289"} ! split hand-foot malformation
intersection_of: MONDO:0016576 ! split hand-foot malformation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 ! TP63
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011536
name: optic atrophy 4
subset: gard_rare {source="GARD:15379", source="MONDO:GARD"}
subset: rare
synonym: "OPA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605293]
synonym: "optic atrophy 4" EXACT [MONDO:Lexical, OMIM:605293]
xref: DOID:0111440 {source="MONDO:equivalentTo"}
xref: GARD:15379 {source="MONDO:GARD"}
xref: MEDGEN:340236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565343 {source="MONDO:equivalentTo"}
xref: OMIM:605293 {source="MONDO:equivalentTo"}
xref: Orphanet:98673 {source="OMIM:605293"}
xref: UMLS:C1854430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340236"}
is_a: MONDO:0043878 {source="MESH:C565343/inferred", source="MONDO:Redundant", source="OMIM:605293"} ! hereditary optic atrophy

[Term]
id: MONDO:0011537
name: macrocephaly-autism syndrome
def: "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23." [DOID:0060867, PMID:15805158, PMID:1719811]
subset: gard_rare {source="GARD:17112", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210548"}
subset: orphanet_rare {source="Orphanet:210548"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [DOID:0060867]
synonym: "macrocephaly/autism syndrome" RELATED [OMIM:605309]
xref: DOID:0060867 {source="MONDO:equivalentTo"}
xref: GARD:17112 {source="MONDO:GARD"}
xref: MEDGEN:381416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565342 {source="MONDO:equivalentTo"}
xref: OMIM:605309 {source="Orphanet:210548/e", source="MONDO:equivalentTo", source="DOID:0060867", source="Orphanet:210548"}
xref: Orphanet:210548 {source="MONDO:equivalentTo", source="OMIM:605309", source="DOID:0060867"}
xref: UMLS:C1854416 {source="MEDGEN:381416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0060867", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:210548", source="Orphanet:210548/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:605309", source="Orphanet:210548"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN

[Term]
id: MONDO:0011538
name: frontoocular syndrome
synonym: "frontoocular syndrome" EXACT [OMIM:605321]
xref: MEDGEN:344278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565340 {source="MONDO:equivalentTo"}
xref: OMIM:605321 {source="MONDO:equivalentTo"}
xref: UMLS:C1854405 {source="MEDGEN:344278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011539
name: nemaline myopathy 5
def: "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community." [Orphanet:98902]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8334", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98902"}
subset: orphanet_rare {source="Orphanet:98902"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Amish nemaline myopathy" EXACT [DOID:0110936]
synonym: "ANM" EXACT ABBREVIATION [DOID:0110936]
synonym: "NEM5" EXACT ABBREVIATION [DOID:0110936, MONDO:Lexical, OMIM:605355]
synonym: "nemaline myopathy 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605355]
synonym: "nemaline myopathy 5, Amish type" EXACT [DOID:0110936]
synonym: "nemaline myopathy caused by mutation in TNNT1" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 5" EXACT [DOID:0110936, MONDORULE:1, OMIM:605355]
synonym: "nemaline myopathy, Amish type" RELATED [OMIM:605355]
synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" RELATED [GARD:0008334]
synonym: "TNNT1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110936 {source="MONDO:equivalentTo"}
xref: GARD:8334 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:98902", source="Orphanet:98902/attributed", source="Orphanet:98902/ntbt"}
xref: MEDGEN:344273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538397 {source="MONDO:equivalentTo"}
xref: OMIM:605355 {source="DOID:0110936", source="MONDO:equivalentTo", source="Orphanet:98902", source="Orphanet:98902/e"}
xref: Orphanet:607 {source="OMIM:605355"}
xref: Orphanet:98902 {source="MONDO:equivalentTo"}
xref: UMLS:C1854380 {source="MEDGEN:344273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018958 {source="DC-OMIM:605355", source="DOID:0110936", source="MESH:C538397", source="MONDO:Redundant", source="OMIM:605355", source="Orphanet:98902"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11948 ! TNNT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11948 {source="MONDO:mim2gene_medgen"} ! TNNT1

[Term]
id: MONDO:0011540
name: spinocerebellar ataxia type 14
def: "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." [Orphanet:98763]
subset: gard_rare {source="GARD:9867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98763"}
subset: orphanet_rare {source="Orphanet:98763"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605361, Orphanet:98763]
synonym: "spinocerebellar ataxia 14" RELATED [MONDO:Lexical, OMIM:605361]
synonym: "spinocerebellar ataxia type 14" EXACT [MONDORULE:2, OMIM:605361]
xref: DOID:0050964 {source="MONDO:equivalentTo"}
xref: GARD:9867 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98763", source="Orphanet:98763/attributed", source="Orphanet:98763/ntbt"}
xref: MEDGEN:343106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537196 {source="Orphanet:98763", source="MONDO:equivalentTo", source="Orphanet:98763/e"}
xref: OMIM:605361 {source="Orphanet:98763", source="DOID:0050964", source="MONDO:equivalentTo", source="Orphanet:98763/e"}
xref: Orphanet:98763 {source="MONDO:equivalentTo", source="OMIM:605361"}
xref: SCTID:719210007 {source="MONDO:equivalentTo"}
xref: UMLS:C1854369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343106"}
is_a: MONDO:0019792 {source="Orphanet:98763"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9402 {source="MONDO:mim2gene_medgen"} ! PRKCG

[Term]
id: MONDO:0011541
name: dilated cardiomyopathy 1J
def: "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." [Orphanet:217622]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217622"}
subset: orphanet_rare {source="Orphanet:217622"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant dilated cardiomyopathy with sensorineural hearing loss" EXACT [DOID:0110440]
synonym: "cardiomyopathy, dilated, 1J" RELATED [MONDO:Lexical, OMIM:605362]
synonym: "cardiomyopathy, dilated, type 1J" EXACT [MONDORULE:4, OMIM:605362]
synonym: "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" RELATED [OMIM:605362]
synonym: "CMD1J" EXACT ABBREVIATION [DOID:0110440, MONDO:Lexical, OMIM:605362]
synonym: "dilated cardiomyopathy 1J" EXACT CLINGEN_LABEL []
synonym: "dilated cardiomyopathy type 1J" EXACT [DOID:0110440, MONDORULE:4]
synonym: "EYA4 familial dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial dilated cardiomyopathy caused by mutation in EYA4" EXACT [MONDO:design_pattern]
synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622]
synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622]
synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [DOID:0110440]
synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622]
xref: DOID:0110440 {source="MONDO:equivalentTo"}
xref: GARD:17128 {source="MONDO:GARD"}
xref: MEDGEN:343105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565337 {source="MONDO:equivalentTo"}
xref: OMIM:605362 {source="Orphanet:217622", source="MONDO:equivalentTo", source="Orphanet:217622/e", source="DOID:0110440"}
xref: Orphanet:217622 {source="MONDO:equivalentTo", source="DOID:0110440", source="OMIM:605362"}
xref: UMLS:C1854368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343105"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:605362", source="Orphanet:217622/inferred"} ! familial dilated cardiomyopathy
intersection_of: MONDO:0016333 ! familial dilated cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3522 ! EYA4
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:217622", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3522 {source="MONDO:mim2gene_medgen"} ! EYA4

[Term]
id: MONDO:0011542
name: psoriasis 6, susceptibility to
synonym: "psoriasis 6, susceptibility to" EXACT [MONDO:Lexical, OMIM:605364]
synonym: "psoriasis susceptibility 6" EXACT [OMIM:605364, OMIM:genemap2]
synonym: "PSORS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605364]
xref: DOID:0111290 {source="MONDO:equivalentTo"}
xref: MEDGEN:343103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605364 {source="MONDO:equivalentTo"}
xref: UMLS:C1854366 {source="MEDGEN:343103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:605364"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:605364", source="OMIM:605364"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011543
name: obsolete BRCA3
comment: See https://omim.org/entry/114480
synonym: "BRCA3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605365]
synonym: "Brcax" RELATED [OMIM:605365]
synonym: "breast cancer 3" RELATED [MONDO:Lexical, OMIM:605365]
synonym: "moved to 114480" RELATED [OMIM:605365]
xref: MESH:C565336 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:605365 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:227535 {source="OMIM:605365"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1700" xsd:anyURI
is_obsolete: true
consider: MONDO:0016419

[Term]
id: MONDO:0011544
name: paragangliomas 3
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10545", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glomus tumors, familial, 3" RELATED [OMIM:605373]
synonym: "paraganglioma caused by mutation in SDHC" EXACT [MONDO:design_pattern]
synonym: "paragangliomas 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605373]
synonym: "paragangliomas type 3" EXACT [MONDORULE:1, OMIM:605373]
synonym: "PGL3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605373]
synonym: "SDHC paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)" RELATED [GARD:0010545]
xref: GARD:10545 {source="MONDO:GARD"}
xref: MEDGEN:340200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565335 {source="MONDO:equivalentTo"}
xref: OMIM:605373 {source="MONDO:equivalentTo"}
xref: Orphanet:29072 {source="OMIM:605373"}
xref: UMLS:C1854336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340200"}
is_a: MONDO:0000448 {source="DC-OMIM:605373", source="MONDO:Redundant", source="OMIM:605373"} ! paraganglioma
is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10682 ! SDHC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10682 {source="MONDO:mim2gene_medgen"} ! SDHC
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3" xsd:anyURI {source="GARD:0010545"}

[Term]
id: MONDO:0011545
name: autosomal dominant nocturnal frontal lobe epilepsy 3
def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 3" EXACT [DOID:0060684, MONDORULE:1]
synonym: "CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ENFL3" EXACT ABBREVIATION [DOID:0060684, MONDO:Lexical, OMIM:605375]
synonym: "epilepsy, nocturnal frontal lobe, 3" RELATED [MONDO:Lexical, OMIM:605375]
synonym: "epilepsy, nocturnal frontal lobe, type 3" EXACT [MONDORULE:1, OMIM:605375]
synonym: "nocturnal frontal lobe epilepsy 3" EXACT [DOID:0060684]
xref: DOID:0060684 {source="MONDO:equivalentTo"}
xref: GARD:15380 {source="MONDO:GARD"}
xref: MEDGEN:344263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565334 {source="MONDO:equivalentTo"}
xref: OMIM:605375 {source="DOID:0060684", source="MONDO:equivalentTo"}
xref: Orphanet:98784 {source="OMIM:605375"}
xref: UMLS:C1854335 {source="MEDGEN:344263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000030 {source="DC-OMIM:605375", source="OMIM:605375"} ! sleep-related hypermotor epilepsy
is_a: MONDO:0020300 {source="DOID:0060684", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy
intersection_of: MONDO:0020300 ! autosomal dominant nocturnal frontal lobe epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1962 ! CHRNB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1962 {source="MONDO:mim2gene_medgen"} ! CHRNB2

[Term]
id: MONDO:0011546
name: heterotaxy, visceral, 2, autosomal
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DTGA2" EXACT ABBREVIATION [OMIM:605376]
synonym: "heterotaxy, visceral, 2, autosomal" EXACT [MONDO:Lexical, OMIM:605376]
synonym: "Htx" RELATED [OMIM:605376]
synonym: "HTX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605376]
synonym: "transposition of the great arteries, dextro-looped 2" EXACT [OMIM:605376]
xref: MEDGEN:237904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605376 {source="MONDO:equivalentTo"}
xref: Orphanet:450 {source="OMIM:605376"}
xref: UMLS:C1415817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237904"}
is_a: MONDO:0000153 {source="DC-OMIM:605376"} ! transposition of the great arteries
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018677 {source="DC-OMIM:605376", source="OMIM:605376"} ! visceral heterotaxy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18292 {source="MONDO:mim2gene_medgen"} ! CFC1

[Term]
id: MONDO:0011547
name: cataract 31 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 31, multiple types" RELATED [MONDO:Lexical, OMIM:605387]
synonym: "cataract, posterior polar, 3" RELATED [OMIM:605387]
synonym: "CHMP4B early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CPP3" NARROW ABBREVIATION [DOID:0110265]
synonym: "CTPP3" NARROW ABBREVIATION [DOID:0110265]
synonym: "CTRCT31" EXACT ABBREVIATION [DOID:0110265, MONDO:Lexical, OMIM:605387]
synonym: "early-onset non-syndromic cataract caused by mutation in CHMP4B" EXACT [MONDO:design_pattern]
synonym: "posterior polar cataract 3" NARROW [DOID:0110265]
xref: DOID:0110265 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110265"}
xref: MEDGEN:343089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535343 {source="MONDO:equivalentTo"}
xref: OMIM:605387 {source="MONDO:equivalentTo", source="DOID:0110265"}
xref: Orphanet:91492 {source="OMIM:605387"}
xref: Orphanet:98993 {source="MONDO:relatedTo", source="OMIM:605387"}
xref: UMLS:C1854311 {source="MEDGEN:343089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110265", source="MESH:C535343", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:605387"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16171 ! CHMP4B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16171 {source="MONDO:mim2gene_medgen"} ! CHMP4B

[Term]
id: MONDO:0011548
name: cerebral palsy, ataxic, autosomal recessive
synonym: "Acp" RELATED [OMIM:605388]
synonym: "ataxic cerebral palsy" RELATED [GARD:0010451, OMIM:605388]
synonym: "cerebral palsy ataxic" RELATED [GARD:0010451]
synonym: "cerebral palsy, ataxic, autosomal recessive" EXACT [OMIM:605388]
xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: OMIM:605388 {source="GARD:0010451", source="MONDO:equivalentTo"}
is_a: MONDO:0000397 ! ataxic cerebral palsy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10451/cerebral-palsy-ataxic" xsd:anyURI {source="GARD:0010451"}

[Term]
id: MONDO:0011549
name: hypotrichosis 1
def: "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "APCDD1 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary generalised hypotrichosis simplex" EXACT OMO:0003005 []
synonym: "hereditary generalized hypotrichosis simplex" EXACT [DOID:0110698]
synonym: "HHS" BROAD ABBREVIATION [DOID:0110698]
synonym: "HTS" EXACT ABBREVIATION [DOID:0110698, OMIM:605389]
synonym: "hypotrichosis 1" EXACT [MONDO:Lexical, OMIM:605389]
synonym: "hypotrichosis caused by mutation in APCDD1" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis simplex, generalized, hereditary" RELATED [OMIM:605389]
synonym: "hypotrichosis type 1" EXACT [DOID:0110698, MONDORULE:1, OMIM:605389]
synonym: "HYPT1" EXACT ABBREVIATION [DOID:0110698, MONDO:Lexical, OMIM:605389]
xref: DOID:0110698 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605389 {source="DOID:0110698", source="MONDO:equivalentTo"}
xref: Orphanet:55654 {source="OMIM:605389"}
xref: UMLS:C4551976 {source="MEDGEN:1644234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003037 {source="DOID:0110698", source="MONDO:Redundant", source="OMIM:605389"} ! hypotrichosis
is_a: MONDO:0018914 ! hypotrichosis simplex
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15718 ! APCDD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15718 {source="MONDO:mim2gene_medgen"} ! APCDD1

[Term]
id: MONDO:0011550
name: fibromatosis, gingival, with hypertrichosis and intellectual disability
synonym: "fibromatosis, gingival, with hypertrichosis and intellectual disability" EXACT [OMIM:605400]
synonym: "fibromatosis, gingival, with hypertrichosis and mental retardation" EXACT DEPRECATED [OMIM:605400]
xref: MEDGEN:344255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565331 {source="MONDO:equivalentTo"}
xref: OMIM:605400 {source="MONDO:equivalentTo"}
xref: UMLS:C1854306 {source="MEDGEN:344255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011551
name: TH-deficient dopa-responsive dystonia
def: "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." [Orphanet:101150]
subset: gard_rare {source="GARD:1902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1810"}
subset: ordo_disorder {source="Orphanet:101150"}
subset: orphanet_rare {source="Orphanet:101150"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive dopa-responsive dystonia" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "autosomal recessive Segawa syndrome" EXACT [Orphanet:101150]
synonym: "DOPA responsive dystonia, autosomal recessive" RELATED [GARD:0001902]
synonym: "Dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:605407]
synonym: "dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "dystonia, DOPA responsive, autosomal recessive" RELATED [GARD:0001902]
synonym: "dystonia, Dopa-responsive, autosomal recessive" RELATED [OMIM:605407]
synonym: "DYT5b" EXACT [Orphanet:101150]
synonym: "Parkinsonism, infantile, autosomal recessive" RELATED [OMIM:605407]
synonym: "Segawa syndrome, autosomal recessive" RELATED [OMIM:605407]
synonym: "Segawa syndrome, recessive" EXACT [OMIM:605407, OMIM:genemap2]
synonym: "Tyrosine Hydroxylase Deficiency" EXACT [NORD:1810]
synonym: "tyrosine hydroxylase-deficient dopa-responsive dystonia" EXACT [Orphanet:101150]
xref: GARD:1902 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:101150/attributed", source="Orphanet:101150/ntbt", source="Orphanet:101150"}
xref: MEDGEN:382128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1810 {source="MONDO:NORD"}
xref: OMIM:605407 {source="Orphanet:101150/e", source="MONDO:equivalentTo", source="Orphanet:101150"}
xref: Orphanet:101150 {source="MONDO:equivalentTo", source="OMIM:605407"}
xref: SCTID:715827001 {source="MONDO:equivalentTo"}
xref: UMLS:C2673535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382128"}
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0016812 {source="MONDO:Redundant", source="Orphanet:101150"} ! dopa-responsive dystonia
is_a: MONDO:0017307 {source="Orphanet:101150"} ! disorder of tyrosine metabolism
is_a: MONDO:0100064 {source="https://orcid.org/0000-0002-5655-9589"} ! tyrosine hydroxylase deficiency
intersection_of: MONDO:0016812 ! dopa-responsive dystonia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:605407", source="Orphanet:101150"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11782 {source="MONDO:mim2gene_medgen"} ! TH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011552
name: schizophrenia 10
def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15." [DOID:0070086]
synonym: "catatonia, periodic" RELATED [OMIM:605419]
synonym: "schizophrenia 10" EXACT [MONDO:Lexical, OMIM:605419]
synonym: "schizophrenia susceptibility locus, chromosome 15Q15-related" RELATED [OMIM:605419]
synonym: "SCZD10" EXACT ABBREVIATION [DOID:0070086, MONDO:Lexical, OMIM:605419]
xref: DOID:0070086 {source="MONDO:equivalentTo"}
xref: MEDGEN:107776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012560 {source="MONDO:equivalentTo"}
xref: OMIM:605419 {source="DOID:0070086", source="MONDO:equivalentTo"}
xref: UMLS:C0543918 {source="MEDGEN:107776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005090 {source="DC-OMIM:605419", source="DOID:0070086"} ! schizophrenia

[Term]
id: MONDO:0011553
name: autosomal recessive nonsyndromic hearing loss 26
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31." [DOID:0110484, PMID:11101839]
subset: gard_rare {source="GARD:22599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 26" NARROW [DOID:0110484]
synonym: "autosomal recessive nonsyndromic deafness 26" NARROW [OMIM:605428]
synonym: "autosomal recessive nonsyndromic deafness type 26" NARROW [DOID:0110484, MONDORULE:2]
synonym: "deafness, autosomal recessive 26" NARROW [MONDO:Lexical, OMIM:605428, OMIM:genemap2]
synonym: "DFNB26" NARROW ABBREVIATION [DOID:0110484, MONDO:Lexical, OMIM:605428]
xref: DOID:0110484 {source="MONDO:equivalentTo"}
xref: GARD:22599 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110484"}
xref: MEDGEN:340185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565329 {source="MONDO:equivalentTo"}
xref: OMIM:605428 {source="MONDO:equivalentTo", source="DOID:0110484"}
xref: UMLS:C1854275 {source="MEDGEN:340185", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:605428", source="DOID:0110484", source="OMIM:605428"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011554
name: obsolete deafness, nonsyndromic, modifier 1
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "deafness, autosomal recessive 26, modifier OF" RELATED [OMIM:605429]
synonym: "deafness, autosomal recessive 26, modifier of" RELATED [OMIM:605429]
synonym: "deafness, nonsyndromic, modifier 1" EXACT [MONDO:Lexical, OMIM:605429]
synonym: "deafness, nonsyndromic, modifier Of, 1" RELATED [OMIM:605429]
synonym: "Dfnb26, modifier of" RELATED [OMIM:605429]
synonym: "Dfnb26, suppressor of" RELATED [OMIM:605429]
synonym: "DFNB26M" RELATED ABBREVIATION [OMIM:605429]
synonym: "DFNM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605429]
xref: OMIM:605429 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011555
name: radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
def: "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." [Orphanet:71289]
subset: gard_rare {source="GARD:16687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71289"}
subset: ordo_malformation_syndrome {source="Orphanet:71289"}
subset: orphanet_rare {source="Orphanet:71289"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATRUS syndrome" EXACT [Orphanet:71289]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia" RELATED [MONDO:Lexical, OMIM:605432]
synonym: "RUSAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605432]
xref: GARD:16687 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:71289/attributed", source="Orphanet:71289/ntbt", source="Orphanet:71289"}
xref: MEDGEN:340183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565328 {source="MONDO:equivalentTo"}
xref: NANDO:2200660 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:605432 {source="MONDO:equivalentTo"}
xref: Orphanet:71289 {source="MONDO:equivalentTo", source="OMIM:605432"}
xref: SCTID:721882001 {source="MONDO:equivalentTo"}
xref: UMLS:C1854273 {source="MEDGEN:340183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
is_a: MONDO:0018795 {source="Orphanet:71289"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:605432"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0011556
name: basal cell carcinoma, susceptibility to, 1
subset: predisposition
synonym: "basal cell carcinoma, multiple" RELATED [OMIM:605462]
synonym: "basal cell carcinoma, nonsyndromic" RELATED [OMIM:605462]
synonym: "basal cell carcinoma, somatic" EXACT [OMIM:605462, OMIM:genemap2]
synonym: "basal cell carcinoma, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:605462]
synonym: "BCC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605462]
synonym: "multiple basal cell carcinoma" RELATED [GARD:0009303]
xref: MEDGEN:414403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605462 {source="MONDO:equivalentTo"}
xref: UMLS:C2751544 {source="MEDGEN:414403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100047 {source="https://orcid.org/0000-0001-5208-3432"} ! basal cell carcinoma, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005341 {source="DC-OMIM:605462", source="https://orcid.org/0000-0001-5208-3432"} ! skin basal cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011557
name: radiation sensitivity/chromosome instability syndrome, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: n_of_one
subset: rare
synonym: "radiation sensitivity/chromosome instability syndrome, autosomal dominant" EXACT [OMIM:605463]
xref: MEDGEN:343082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565326 {source="MONDO:equivalentTo"}
xref: OMIM:605463 {source="MONDO:equivalentTo"}
xref: UMLS:C1854244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343082"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005559 {source="MESH:C565326", source="MONDO:Redundant"} ! neurodegenerative disease

[Term]
id: MONDO:0011558
name: Usher syndrome type 2C
def: "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner." [OMIM:605472]
subset: gard_rare {source="GARD:8497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH2C" EXACT ABBREVIATION [DOID:0110839, MONDO:Lexical, OMIM:605472]
synonym: "Usher syndrome type IIC" EXACT [DOID:0110839]
synonym: "Usher syndrome, type 2C" RELATED [GARD:0008497]
synonym: "Usher syndrome, type 2C, autosomal recessive, digenic dominant" EXACT [OMIM:605472, OMIM:genemap2]
synonym: "Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" EXACT [OMIM:605472, OMIM:genemap2]
synonym: "Usher syndrome, type IIb" RELATED [OMIM:605472]
synonym: "Usher syndrome, type IIb, formerly" RELATED [OMIM:605472]
synonym: "USHER syndrome, type IIC" RELATED [MONDO:Lexical, OMIM:605472]
synonym: "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" EXACT [OMIM:605472, OMIM:genemap2]
synonym: "Usher syndrome, type IIc, Gpr98/Pdzd7, digenic" RELATED [OMIM:605472]
xref: DOID:0110839 {source="MONDO:equivalentTo"}
xref: GARD:8497 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110839"}
xref: MEDGEN:419359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536492 {source="MONDO:equivalentTo"}
xref: NCIT:C153174 {source="MONDO:equivalentTo"}
xref: OMIM:605472 {source="MONDO:equivalentTo", source="DOID:0110839"}
xref: Orphanet:231178 {source="OMIM:605472"}
xref: Orphanet:886 {source="OMIM:605472"}
xref: UMLS:C2931213 {source="MEDGEN:419359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016484 {source="DOID:0110839"} ! Usher syndrome type 2
is_a: MONDO:0019501 {source="DOID:0110839/inferred", source="MESH:C536492", source="MONDO:Redundant", source="OMIM:605472"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:605472"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8497/usher-syndrome-type-2c" xsd:anyURI {source="GARD:0008497"}

[Term]
id: MONDO:0011559
name: benign recurrent intrahepatic cholestasis type 2
subset: gard_rare {source="GARD:10029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99961"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign recurrent intrahepatic cholestasis 2" RELATED [GARD:0010029]
synonym: "Bric type 2" EXACT [DOID:0070232, Orphanet:99961]
synonym: "BRIC2" EXACT ABBREVIATION [DOID:0070232, GARD:0010029, MONDO:Lexical, OMIM:605479, Orphanet:99961]
synonym: "cholestasis, benign recurrent intrahepatic 2" RELATED [GARD:0010029]
synonym: "cholestasis, benign recurrent intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:605479]
synonym: "cholestasis, benign recurrent intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:605479]
synonym: "mild ABCB11 deficiency" RELATED [GARD:0010029]
synonym: "recurrent familial intrahepatic cholestasis 2" RELATED [GARD:0010029]
xref: DOID:0070232 {source="MONDO:equivalentTo"}
xref: GARD:10029 {source="MONDO:GARD"}
xref: ICD10CM:K83.1 {source="Orphanet:99961", source="Orphanet:99961/attributed", source="Orphanet:99961/ntbt"}
xref: MEDGEN:435857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535931 {source="Orphanet:99961", source="Orphanet:99961/e"}
xref: MESH:C535934 {source="MONDO:equivalentTo"}
xref: OMIM:605479 {source="Orphanet:99961", source="DOID:0070232", source="MONDO:equivalentTo", source="Orphanet:99961/e", source="GARD:0010029"}
xref: Orphanet:65682 {source="OMIM:605479"}
xref: Orphanet:99961 {source="DOID:0070232", source="OMIM:605479", source="MONDO:equivalentTo"}
xref: UMLS:C2608083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:435857"}
is_a: MONDO:0003847 {source="DOID:0070232"} ! hereditary disease
is_a: MONDO:0019008 {source="DOID:0070232", source="OMIM:605479", source="Orphanet:99961"} ! benign recurrent intrahepatic cholestasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/42 {source="MONDO:mim2gene_medgen"} ! ABCB11
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2" xsd:anyURI {source="GARD:0010029"}

[Term]
id: MONDO:0011560
name: systemic lupus erythematosus, susceptibility to, 3
subset: predisposition
synonym: "SLEB3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605480]
synonym: "systemic lupus erythematosus, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:605480]
xref: MEDGEN:381377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605480 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:605480"}
xref: UMLS:C1854235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381377"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0011561
name: Alzheimer disease 6
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24." [DOID:0110038, PMID:16385451]
subset: gard_rare {source="GARD:16509", source="MONDO:GARD"}
subset: rare
synonym: "AD6" EXACT ABBREVIATION [DOID:0110038, OMIM:605526]
synonym: "Alzheimer disease 6" EXACT [DOID:0110038, OMIM:605526]
synonym: "Alzheimer disease 6, late onset" EXACT [DOID:0110038]
synonym: "Alzheimer disease 6, late-onset" RELATED [OMIM:605526]
synonym: "Alzheimer disease type 6" EXACT [MONDORULE:1, OMIM:605526]
synonym: "Alzheimer's disease 6" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 6" EXACT [DOID:0110038, MONDORULE:1]
synonym: "plasma Beta-amyloid-42 level quantitative trait locus" RELATED [OMIM:605526]
xref: DOID:0110038 {source="MONDO:equivalentTo"}
xref: GARD:16509 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110038"}
xref: MEDGEN:381362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565325 {source="MONDO:equivalentTo"}
xref: OMIM:605526 {source="DOID:0110038", source="MONDO:equivalentTo"}
xref: UMLS:C1854187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381362"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0011562
name: autosomal dominant Parkinson disease 4
def: "A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22." [DOID:0060895, PMID:14755720, PMID:17251522]
subset: gard_rare {source="GARD:18475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Lewy body Parkinson disease 4" EXACT [DOID:0060895]
synonym: "autosomal dominant Parkinson disease 4" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant Parkinson disease type 4" EXACT [DOID:0060895, MONDORULE:1]
synonym: "autosomal dominant Parkinson's disease 4" RELATED [DOID:0060895]
synonym: "PARK4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605543]
synonym: "Parkinson disease 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605543]
synonym: "Parkinson disease 4, autosomal dominant Lewy body" RELATED [OMIM:605543]
xref: DOID:0060895 {source="MONDO:equivalentTo"}
xref: GARD:18475 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="DOID:0060895"}
xref: MEDGEN:381361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565324 {source="MONDO:equivalentTo"}
xref: OMIM:605543 {source="DOID:0060895", source="MONDO:equivalentTo"}
xref: Orphanet:411602 {source="OMIM:605543"}
xref: UMLS:C1854182 {source="MEDGEN:381361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DOID:0060895/inferred", source="MESH:C565324", source="MONDO:Redundant", source="OMIM:605543"} ! Parkinson disease
is_a: MONDO:0008199 {source="DOID:0060895", source="Orphanet:411602"} ! late-onset Parkinson disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11138 {source="MONDO:mim2gene_medgen"} ! SNCA

[Term]
id: MONDO:0011563
name: fibromatosis, gingival, 2
subset: gard_rare {source="GARD:2474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibromatosis gingival, hereditary, 2" RELATED [GARD:0002474]
synonym: "fibromatosis, gingival, 2" EXACT [MONDO:Lexical, OMIM:605544]
synonym: "fibromatosis, gingival, hereditary, 2" RELATED [OMIM:605544]
synonym: "GGF2" RELATED ABBREVIATION [OMIM:605544]
synonym: "GINGF2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605544]
synonym: "gingival fibromatosis, 2" RELATED [GARD:0002474]
synonym: "hereditary gingival fibromatosis, 2" RELATED [GARD:0002474]
synonym: "HGF2" RELATED ABBREVIATION [GARD:0002474]
xref: GARD:2474 {source="MONDO:GARD"}
xref: MEDGEN:344226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565323 {source="MONDO:equivalentTo"}
xref: OMIM:605544 {source="MONDO:equivalentTo"}
xref: Orphanet:2024 {source="OMIM:605544"}
xref: UMLS:C1854181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344226"}
is_a: MONDO:0016070 {source="DC-OMIM:605544", source="OMIM:605544"} ! hereditary gingival fibromatosis

[Term]
id: MONDO:0011564
name: cone-rod dystrophy 8
def: "A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24." [DOID:0111014, PMID:11053266]
subset: gard_rare {source="GARD:15381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 8" EXACT [MONDO:Lexical, OMIM:605549]
synonym: "cone-rod dystrophy type 8" EXACT [DOID:0111014, MONDORULE:1]
synonym: "CORD8" EXACT ABBREVIATION [DOID:0111014, MONDO:Lexical, OMIM:605549]
xref: DOID:0111014 {source="MONDO:equivalentTo"}
xref: GARD:15381 {source="MONDO:GARD"}
xref: MEDGEN:381360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565322 {source="MONDO:equivalentTo"}
xref: OMIM:605549 {source="MONDO:equivalentTo", source="DOID:0111014"}
xref: UMLS:C1854180 {source="MONDO:equivalentTo", source="MEDGEN:381360", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:605549", source="DOID:0111014"} ! cone-rod dystrophy

[Term]
id: MONDO:0011565
name: metabolic syndrome X
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abdominal obesity metabolic syndrome" RELATED [GARD:0009226]
synonym: "abdominal obesity-metabolic syndrome 1" EXACT [DOID:14221, MONDO:Lexical, OMIM:605552]
synonym: "abdominal obesity-metabolic syndrome quantitative trait locus 1" RELATED [OMIM:605552]
synonym: "AOMS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605552]
synonym: "dysmetabolic syndrome X" EXACT [DOID:14221]
synonym: "metabolic syndrome 10" RELATED [OMIM:605552]
synonym: "metabolic syndrome type X" EXACT [DOID:14221, MONDORULE:1]
synonym: "metabolic syndrome, protection against" RELATED [OMIM:605552]
xref: DOID:14221 {source="MONDO:equivalentTo"}
xref: ICD10CM:E88.81 {source="DOID:14221"}
xref: ICD9:277.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14221"}
xref: MEDGEN:1640883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D024821 {source="MONDO:equivalentTo", source="DOID:14221"}
xref: NCIT:C84442 {source="DOID:14221"}
xref: OMIM:605552 {source="MONDO:equivalentTo", source="DOID:14221"}
xref: SCTID:190394009 {source="DOID:14221"}
xref: SCTID:237602007 {source="MONDO:equivalentTo", source="DOID:14221"}
xref: UMLS:C4552048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640883"}
is_a: MONDO:0000816 {source="DC-OMIM:605552", source="DOID:14221", source="OMIM:605552"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7467 {source="MONDO:mim2gene_medgen"} ! MTTP

[Term]
id: MONDO:0011566
name: abdominal obesity-metabolic syndrome quantitative trait locus 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Abdominal obesity-metabolic syndrome" EXACT [OMIM:605572, OMIM:genemap2]
synonym: "abdominal obesity-metabolic syndrome quantitative trait locus 2" EXACT [OMIM:605572]
synonym: "abdominal obesity-metabolic syndrome quantitative trait locus type 2" EXACT [MONDORULE:1, OMIM:605572]
synonym: "Aoms2" RELATED [OMIM:605572]
xref: MEDGEN:344224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605572 {source="MONDO:equivalentTo"}
xref: UMLS:C1854170 {source="MONDO:equivalentTo", source="MEDGEN:344224", source="MONDO:MEDGEN"}
is_a: MONDO:0000816 {source="DC-OMIM:605572", source="OMIM:605572"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011567
name: dilated cardiomyopathy 1K
def: "A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16." [DOID:0110437, PMID:11085912]
subset: gard_rare {source="GARD:15382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1K" RELATED [MONDO:Lexical, OMIM:605582]
synonym: "CMD1K" EXACT ABBREVIATION [DOID:0110437, MONDO:Lexical, OMIM:605582]
synonym: "dilated cardiomyopathy type 1K" EXACT [DOID:0110437, MONDORULE:4]
xref: DOID:0110437 {source="MONDO:equivalentTo"}
xref: GARD:15382 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110437"}
xref: MEDGEN:381354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565320 {source="MONDO:equivalentTo"}
xref: OMIM:605582 {source="DOID:0110437", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:605582"}
xref: UMLS:C1854159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381354"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:605582"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0011568
name: autosomal dominant nonsyndromic hearing loss 25
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18112", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 25" NARROW [DOID:0110555]
synonym: "autosomal dominant nonsyndromic deafness 25" NARROW [OMIM:605583]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 25" NARROW [DOID:0110555, MONDORULE:2]
synonym: "deafness, autosomal dominant 25" NARROW [MONDO:Lexical, OMIM:605583, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 25" NARROW [MONDORULE:2, OMIM:605583]
synonym: "DFNA25" NARROW ABBREVIATION [DOID:0110555, MONDO:Lexical, OMIM:605583]
synonym: "SLC17A8 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110555 {source="MONDO:equivalentTo"}
xref: GARD:18112 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110555"}
xref: MEDGEN:344221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565319 {source="MONDO:equivalentTo"}
xref: OMIM:605583 {source="DOID:0110555", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="OMIM:605583"}
xref: UMLS:C1854158 {source="MEDGEN:344221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:605583", source="DOID:0110555", source="MONDO:Redundant", source="OMIM:605583"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20151 ! SLC17A8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20151 {source="MONDO:mim2gene_medgen"} ! SLC17A8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011569
name: Charcot-Marie-Tooth disease type 2B1
def: "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:98856]
subset: gard_rare {source="GARD:8548", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98856"}
subset: orphanet_rare {source="Orphanet:98856"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-CMT2B1" EXACT [Orphanet:98856]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156]
synonym: "autosomal recessive axonal CMT4C1" EXACT [DOID:0110156, Orphanet:98856]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156, Orphanet:98856]
synonym: "Charcot Marie Tooth disease type 2B1" RELATED [GARD:0008548]
synonym: "Charcot-Marie-Tooth disease neuronal type 2B1" EXACT [DOID:0110156]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1" RELATED [OMIM:605588]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1" RELATED [OMIM:605588]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B1" RELATED [GARD:0008548, MONDO:Lexical, OMIM:605588]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B1" RELATED [OMIM:605588]
synonym: "Charcot-Marie-Tooth disease, type 2B1" EXACT [OMIM:605588, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2B1" EXACT [DOID:0110156]
synonym: "Charcot-Marie-Tooth neuropathy, type 2B1" RELATED [OMIM:605588]
synonym: "CMT 2B1" RELATED [GARD:0008548]
synonym: "CMT2B1" EXACT ABBREVIATION [DOID:0110156, MONDO:Lexical, OMIM:605588]
synonym: "LMNA Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110156 {source="MONDO:equivalentTo"}
xref: GARD:8548 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/attributed", source="Orphanet:98856/ntbt"}
xref: MEDGEN:343064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537990 {source="MONDO:equivalentTo", source="Orphanet:98856", source="Orphanet:98856/e"}
xref: OMIM:605588 {source="MONDO:equivalentTo", source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/e"}
xref: Orphanet:98856 {source="OMIM:605588", source="MONDO:equivalentTo", source="DOID:0110156"}
xref: SCTID:725048002 {source="MONDO:equivalentTo"}
xref: UMLS:C1854154 {source="MEDGEN:343064", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110156/inferred", source="MESH:C537990", source="MONDO:Redundant", source="OMIM:605588", source="Orphanet:98856/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110156", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 ! LMNA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1" xsd:anyURI {source="GARD:0008548"}

[Term]
id: MONDO:0011570
name: Charcot-Marie-Tooth disease type 2B2
def: "Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry." [Orphanet:101101]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101101"}
subset: orphanet_rare {source="Orphanet:101101"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-CMT2B2" EXACT [DOID:0110179, Orphanet:101101]
synonym: "ARCMT2B" EXACT ABBREVIATION [DOID:0110179]
synonym: "Arcmt2B" RELATED [OMIM:605589]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2" EXACT [DOID:0110179, Orphanet:101101]
synonym: "autosomal recessive axonal CMT4C3" EXACT [DOID:0110179, Orphanet:101101]
synonym: "Charcot Marie Tooth disease type 2B2" RELATED [GARD:0001249]
synonym: "Charcot-Marie-Tooth disease neuronal type 2B2" EXACT [DOID:0110179]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MED25" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2B2" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2" RELATED [GARD:0001249]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2" RELATED [OMIM:605589]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2B2" RELATED [GARD:0001249, MONDO:Lexical, OMIM:605589]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B2" RELATED [OMIM:605589]
synonym: "Charcot-Marie-Tooth disease, type 2B2" EXACT [OMIM:605589, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2B2" EXACT [DOID:0110179]
synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" RELATED [OMIM:605589]
synonym: "CMT 2B2" RELATED [GARD:0001249]
synonym: "CMT2B2" EXACT ABBREVIATION [DOID:0110179, MONDO:Lexical, OMIM:605589]
synonym: "MED25 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110179 {source="MONDO:equivalentTo"}
xref: GARD:1249 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:101101/attributed", source="Orphanet:101101/ntbt", source="Orphanet:101101", source="DOID:0110179"}
xref: MEDGEN:381352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537991 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e"}
xref: OMIM:605589 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e", source="DOID:0110179"}
xref: Orphanet:101101 {source="OMIM:605589", source="MONDO:equivalentTo", source="DOID:0110179"}
xref: SCTID:719981005 {source="MONDO:equivalentTo"}
xref: UMLS:C1854150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381352"}
is_a: MONDO:0015626 {source="DOID:0110179/inferred", source="MESH:C537991", source="MONDO:Redundant", source="OMIM:605589", source="Orphanet:101101/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110179", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28845 ! MED25
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28845 {source="MONDO:mim2gene_medgen"} ! MED25
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2" xsd:anyURI {source="GARD:0001249"}

[Term]
id: MONDO:0011571
name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
subset: gard_rare {source="GARD:15383", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, autosomal dominant 39, with dentinogenesis" NARROW [OMIM:605594, OMIM:genemap2]
synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" EXACT [OMIM:605594]
synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:605594]
synonym: "Dfna39/dentinogenesis imperfecta 1 syndrome" RELATED [OMIM:605594]
synonym: "Dfna39/Dgi1 syndrome" RELATED [OMIM:605594]
synonym: "Dgi1/Dfna39 syndrome" RELATED [OMIM:605594]
xref: GARD:15383 {source="MONDO:GARD"}
xref: MEDGEN:340145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565316 {source="MONDO:equivalentTo"}
xref: OMIM:605594 {source="MONDO:equivalentTo"}
xref: Orphanet:166260 {source="OMIM:605594"}
xref: UMLS:C1854146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340145"}
is_a: MONDO:0007441 {source="Orphanet:166260/btnt"} ! dentinogenesis imperfecta type 2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3054 {source="MONDO:mim2gene_medgen"} ! DSPP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011572
name: type 1 diabetes mellitus 18
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1." [DOID:0110755, MONDO:patterns/inherited_susceptibility, PMID:11175794]
synonym: "diabetes mellitus, insulin-dependent, 18" RELATED [MONDO:Lexical, OMIM:605598]
synonym: "IDDM18" EXACT ABBREVIATION [DOID:0110755, MONDO:Lexical, OMIM:605598]
synonym: "insulin-dependent diabetes mellitus 18" EXACT [DOID:0110755, OMIM:605598]
xref: DOID:0110755 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110755"}
xref: MEDGEN:344213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565315 {source="MONDO:equivalentTo"}
xref: OMIM:605598 {source="DOID:0110755", source="MONDO:equivalentTo"}
xref: UMLS:C1854125 {source="MONDO:equivalentTo", source="MEDGEN:344213", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:605598"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:605598", source="DOID:0110755", source="MESH:C565315", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:605598"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0011573
name: psoriasis 7, susceptibility to
synonym: "psoriasis 7, susceptibility to" EXACT [MONDO:Lexical, OMIM:605606]
synonym: "psoriasis susceptibility 7" EXACT [OMIM:605606, OMIM:genemap2]
synonym: "psoriasis, protection against" EXACT [OMIM:605606, OMIM:genemap2]
synonym: "PSORS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605606]
xref: DOID:0111279 {source="MONDO:equivalentTo"}
xref: MEDGEN:343057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605606 {source="MONDO:equivalentTo"}
xref: UMLS:C1854124 {source="MEDGEN:343057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:605606"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19100 {source="MONDO:mim2gene_medgen"} ! IL23R
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:605606", source="OMIM:605606"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011574
name: tetralogy of fallot syndrome, autosomal recessive
synonym: "tetralogy of fallot syndrome, autosomal recessive" EXACT [OMIM:605618]
xref: MEDGEN:381344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565314 {source="MONDO:equivalentTo"}
xref: OMIM:605618 {source="MONDO:equivalentTo"}
xref: UMLS:C1854119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381344"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011575
name: cerebrooculonasal syndrome
def: "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." [Orphanet:66625]
subset: gard_rare {source="GARD:3480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66625"}
subset: ordo_malformation_syndrome {source="Orphanet:66625"}
subset: orphanet_rare {source="Orphanet:66625"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebrooculonasal syndrome" EXACT [OMIM:605627]
xref: GARD:3480 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:66625/attributed", source="Orphanet:66625/ntbt", source="Orphanet:66625"}
xref: MEDGEN:340138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565313 {source="MONDO:equivalentTo"}
xref: OMIM:605627 {source="Orphanet:66625", source="MONDO:equivalentTo", source="Orphanet:66625/e"}
xref: Orphanet:66625 {source="MONDO:equivalentTo", source="OMIM:605627"}
xref: SCTID:720855003 {source="MONDO:equivalentTo"}
xref: UMLS:C1854108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340138"}
is_a: MONDO:0015159 {source="Orphanet:66625"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66625", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome" xsd:anyURI {source="GARD:0003480"}

[Term]
id: MONDO:0011576
name: familial hyperaldosteronism type II
def: "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." [Orphanet:404]
subset: gard_rare {source="GARD:2789", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404"}
subset: orphanet_rare {source="Orphanet:404"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial adrenal adenoma" EXACT [Orphanet:404]
synonym: "familial hyperaldosteronism type 2" EXACT [Orphanet:404]
synonym: "FH 2" RELATED [OMIM:605635]
synonym: "FH-II" EXACT [Orphanet:404]
synonym: "FH2" EXACT ABBREVIATION [Orphanet:404]
synonym: "FHII" RELATED ABBREVIATION [GARD:0002789]
synonym: "HALD2" RELATED ABBREVIATION [OMIM:605635]
synonym: "hyperaldosteronism, familial, type II" RELATED [OMIM:605635]
xref: GARD:2789 {source="MONDO:GARD"}
xref: ICD10CM:E26.0 {source="Orphanet:404/inclusion", source="Orphanet:404/ntbt", source="Orphanet:404"}
xref: MEDGEN:340137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565312 {source="MONDO:equivalentTo"}
xref: NCIT:C127162 {source="MONDO:equivalentTo"}
xref: OMIM:605635 {source="Orphanet:404", source="MONDO:equivalentTo", source="Orphanet:404/e"}
xref: Orphanet:404 {source="OMIM:605635", source="MONDO:equivalentTo"}
xref: SCTID:703233008 {source="MONDO:equivalentTo"}
xref: UMLS:C1854107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340137"}
is_a: MONDO:0016525 {source="Orphanet:404"} ! familial hyperaldosteronism
is_a: MONDO:0021227 {source="Orphanet:404"} ! adrenal gland neoplasm

[Term]
id: MONDO:0011577
name: myopathy, proximal, and ophthalmoplegia
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inclusion body myopathy 3, autosomal dominant" RELATED [OMIM:605637]
synonym: "inclusion body myopathy 3, autosomal dominant, formerly" RELATED [OMIM:605637]
synonym: "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [OMIM:605637]
synonym: "MYOPATHY, proximal, and ophthalmoplegia" RELATED [OMIM:605637]
synonym: "myopathy, proximal, and ophthalmoplegia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605637]
synonym: "MYPOP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605637]
synonym: "proximal myopathy and ophthalmoplegia" EXACT [OMIM:605637, OMIM:genemap2]
xref: DOID:0080719 {source="MONDO:equivalentTo"}
xref: MEDGEN:381340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565311 {source="MONDO:equivalentTo"}
xref: OMIM:605637 {source="MONDO:equivalentTo"}
xref: Orphanet:79091 {source="OMIM:605637"}
xref: UMLS:C1854106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381340"}
is_a: MONDO:0007827 {source="MESH:C565311"} ! inclusion body myositis
is_a: MONDO:0019952 {source="OMIM:605637"} ! congenital myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7572 {source="MONDO:mim2gene_medgen"} ! MYH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011578
name: familial papillary thyroid carcinoma with renal papillary neoplasia
def: "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC)." [Orphanet:97290]
comment: Editor note: check MONDO:0000201 thyroid cancer, nonmedullary
subset: gard_rare {source="GARD:16853", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97290"}
subset: orphanet_rare {source="Orphanet:97290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Prn1" RELATED [OMIM:605642]
synonym: "ptc-RCC" EXACT [Orphanet:97290]
synonym: "Ptcprn" RELATED [OMIM:605642]
synonym: "thyroid carcinoma, papillary, with papillary renal neoplasia" RELATED [OMIM:605642]
xref: GARD:16853 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:97290", source="Orphanet:97290/attributed", source="Orphanet:97290/ntbt"}
xref: ICD10CM:C73 {source="Orphanet:97290", source="Orphanet:97290/attributed", source="Orphanet:97290/ntbt"}
xref: MEDGEN:381339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565310 {source="MONDO:equivalentTo"}
xref: OMIM:605642 {source="MONDO:equivalentTo", source="Orphanet:97290", source="Orphanet:97290/e"}
xref: Orphanet:97290 {source="OMIM:605642", source="MONDO:equivalentTo"}
xref: SCTID:717734005 {source="MONDO:equivalentTo"}
xref: UMLS:C1854104 {source="MEDGEN:381339", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017896 {source="Orphanet:97290"} ! familial nonmedullary thyroid carcinoma

[Term]
id: MONDO:0011579
name: late-onset retinal degeneration
def: "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." [Orphanet:67042]
subset: gard_rare {source="GARD:4357", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67042"}
subset: orphanet_rare {source="Orphanet:67042"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant late-onset retinal degeneration" EXACT [DOID:0060869, Orphanet:67042]
synonym: "late-onset retinal degeneration" EXACT [MONDO:Lexical, OMIM:605670]
synonym: "LORD" EXACT ABBREVIATION [DOID:0060869, MONDO:Lexical, OMIM:605670, Orphanet:67042]
synonym: "pigmentary retinopathy" RELATED [GARD:0004357]
synonym: "retinal Degeneration, late-onset, autosomal dominant" RELATED [OMIM:605670]
xref: DOID:0060869 {source="MONDO:equivalentTo"}
xref: GARD:4357 {source="MONDO:GARD"}
xref: MEDGEN:344198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565309 {source="MONDO:equivalentTo"}
xref: OMIM:605670 {source="MONDO:equivalentTo", source="Orphanet:67042", source="DOID:0060869", source="Orphanet:67042/e"}
xref: Orphanet:67042 {source="MONDO:equivalentTo", source="OMIM:605670", source="DOID:0060869"}
xref: SCTID:719431007 {source="MONDO:equivalentTo"}
xref: UMLS:C1854065 {source="MEDGEN:344198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="DOID:0060869", source="MESH:C565309", source="MONDO:Redundant", source="MONDO:indirect"} ! retinal degeneration
is_a: MONDO:0019118 {source="Orphanet:67042"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14344 {source="MONDO:mim2gene_medgen"} ! C1QTNF5

[Term]
id: MONDO:0011580
name: cerebellar ataxia and hypergonadotropic hypogonadism
subset: gard_rare {source="GARD:15384", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebellar ataxia and hypergonadotropic hypogonadism" EXACT [OMIM:605672]
xref: GARD:15384 {source="MONDO:GARD"}
xref: MEDGEN:381328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565308 {source="MONDO:equivalentTo"}
xref: OMIM:605672 {source="MONDO:equivalentTo"}
xref: Orphanet:1173 {source="OMIM:605672"}
xref: UMLS:C1854064 {source="MEDGEN:381328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008935 {source="Orphanet:1173/btnt"} ! cerebellar ataxia-hypogonadism syndrome

[Term]
id: MONDO:0011581
name: arrhythmogenic cardiomyopathy with wooly hair and keratoderma
def: "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." [https://clinicalgenome.org/affiliation/40003/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65282"}
subset: orphanet_rare {source="Orphanet:65282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arrhythmogenic cardiomyopathy with wooly hair and keratoderma" EXACT CLINGEN_LABEL []
synonym: "cardiomyopathy dilated with woolly hair and keratoderma" RELATED OMO:0003005 []
synonym: "cardiomyopathy dilated with wooly hair and keratoderma" RELATED [GARD:0005595]
synonym: "cardiomyopathy, dilated, with woolly hair and keratoderma" RELATED OMO:0003005 []
synonym: "cardiomyopathy, dilated, with wooly hair and keratoderma" RELATED [MONDO:Lexical, OMIM:605676]
synonym: "Carvajal syndrome" EXACT [DOID:0090128, Orphanet:65282]
synonym: "DCWHK" EXACT ABBREVIATION [DOID:0090128, MONDO:Lexical, OMIM:605676]
synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT OMO:0003005 []
synonym: "dilated cardiomyopathy with wooly hair and keratoderma" EXACT [https://www.clinicalgenome.org/affiliation/40003/]
synonym: "epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy" RELATED OMO:0003005 []
synonym: "epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy" RELATED [GARD:0005595]
synonym: "keratoderma with woolly hair type II" EXACT OMO:0003005 []
synonym: "keratoderma with wooly hair type II" EXACT [Orphanet:65282]
synonym: "KWWH type II" EXACT [Orphanet:65282]
synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT OMO:0003005 []
synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair" EXACT [DOID:0090128, OMIM:605676]
synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED OMO:0003005 []
synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED OMO:0003005 []
synonym: "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT OMO:0003005 []
synonym: "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT OMO:0003005 []
synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED [GARD:0005595]
synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED [GARD:0005595]
synonym: "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282]
synonym: "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282]
xref: DOID:0090128 {source="MONDO:equivalentTo"}
xref: GARD:5595 {source="MONDO:GARD"}
xref: MEDGEN:340124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535581 {source="MONDO:equivalentTo"}
xref: OMIM:605676 {source="MONDO:equivalentTo", source="Orphanet:65282", source="DOID:0090128", source="Orphanet:65282/e"}
xref: Orphanet:65282 {source="OMIM:605676", source="MONDO:equivalentTo"}
xref: SCTID:719835006 {source="MONDO:equivalentTo"}
xref: UMLS:C1854063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340124"}
is_a: MONDO:0019287 {source="Orphanet:65282"} ! ectodermal dysplasia syndrome
is_a: MONDO:0100080 {source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome
relationship: disease_has_major_feature HP:0000982 {source="MONDO:0020097-obsoleted"} ! Palmoplantar keratoderma
relationship: disease_has_major_feature HP:0001644 {source="Orphanet:65282"} ! Dilated cardiomyopathy
relationship: disease_has_major_feature HP:0002224 {source="Orphanet:65282"} ! Woolly hair
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:65282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0017672 {source="MONDO:0020097-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0018558 {source="Orphanet:65282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with wooly hair
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1120" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma" xsd:anyURI {source="GARD:0005595"}

[Term]
id: MONDO:0011582
name: multiple mitochondrial dysfunctions syndrome 1
def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401869"}
subset: orphanet_rare {source="Orphanet:401869"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1" EXACT [MONDO:design_pattern]
synonym: "Mmds" BROAD [OMIM:605711]
synonym: "MMDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605711]
synonym: "multiple mitochondrial dysfunctions syndrome 1" EXACT [MONDO:Lexical, OMIM:605711]
synonym: "multiple mitochondrial dysfunctions syndrome type 1" EXACT [DOID:0080133, MONDORULE:1, OMIM:605711]
synonym: "NFU1 deficiency" EXACT [Orphanet:401869]
synonym: "NFU1 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080133 {source="MONDO:equivalentTo"}
xref: GARD:17661 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:401869", source="Orphanet:401869/attributed", source="Orphanet:401869/ntbt"}
xref: MEDGEN:478062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605711 {source="DOID:0080133", source="MONDO:equivalentTo", source="Orphanet:401869", source="Orphanet:401869/e"}
xref: Orphanet:289573 {source="OMIM:605711"}
xref: Orphanet:401869 {source="OMIM:605711", source="MONDO:equivalentTo"}
xref: UMLS:C3276432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:478062"}
is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:605711", source="Orphanet:401869"} ! fatal multiple mitochondrial dysfunctions syndrome
intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16287 ! NFU1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16287 {source="MONDO:mim2gene_medgen"} ! NFU1

[Term]
id: MONDO:0011583
name: cerebral amyloid angiopathy, APP-related
def: "A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3." [DOID:0070028]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis, Cerebroarterial, APP-related" EXACT [DOID:0070028]
synonym: "amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant" RELATED [DOID:0070028]
synonym: "APP-related cerebral amyloid angiopathy" RELATED [DOID:0070028]
synonym: "cerebral amyloid angiopathy, APP-related" EXACT [OMIM:605714]
synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" RELATED [DOID:0070028]
synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" RELATED [DOID:0070028]
synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" RELATED [DOID:0070028]
synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" RELATED [DOID:0070028, OMIM:605714]
synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" RELATED [DOID:0070028, OMIM:605714]
synonym: "cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants" EXACT [OMIM:605714, OMIM:genemap2]
synonym: "HCHWAD" EXACT ABBREVIATION [DOID:0070028]
xref: DOID:0070028 {source="MONDO:equivalentTo"}
xref: MEDGEN:414044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C157147 {source="MONDO:equivalentTo"}
xref: OMIM:605714 {source="MONDO:equivalentTo", source="DOID:0070028"}
xref: Orphanet:100006 {source="OMIM:605714"}
xref: Orphanet:324703 {source="OMIM:605714"}
xref: Orphanet:324708 {source="OMIM:605714"}
xref: Orphanet:324713 {source="OMIM:605714"}
xref: Orphanet:324718 {source="OMIM:605714"}
xref: Orphanet:324723 {source="OMIM:605714"}
xref: Orphanet:85458 {source="OMIM:605714"}
xref: UMLS:C2751536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414044"}
is_a: MONDO:0005620 {source="DC-OMIM:605714", source="DOID:0070028"} ! cerebral amyloid angiopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/620 {source="MONDO:mim2gene_medgen"} ! APP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011584
name: Fanconi anemia complementation group D1
def: "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML." [Orphanet:319462]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319462"}
subset: orphanet_rare {source="Orphanet:319462"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FAD1" EXACT ABBREVIATION [DOID:0111089]
synonym: "Fad1" RELATED [OMIM:605724]
synonym: "FANCD1" EXACT ABBREVIATION [DOID:0111089, MONDO:Lexical, OMIM:605724]
synonym: "Fanconi anemia complementation group D1" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia, complementation group D1" RELATED [MONDO:Lexical, OMIM:605724]
synonym: "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" RELATED [Orphanet:319462]
xref: DOID:0111089 {source="MONDO:equivalentTo"}
xref: GARD:17449 {source="MONDO:GARD"}
xref: MEDGEN:325420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563980 {source="MONDO:equivalentTo"}
xref: NCIT:C125705 {source="MONDO:equivalentTo"}
xref: OMIM:605724 {source="MONDO:equivalentTo", source="Orphanet:319462", source="DOID:0111089", source="Orphanet:319462/e"}
xref: Orphanet:319462 {source="OMIM:605724", source="MONDO:equivalentTo"}
xref: SCTID:766707003 {source="MONDO:equivalentTo"}
xref: UMLS:C1838457 {source="MEDGEN:325420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:605724", source="DOID:0111089", source="MESH:C563980", source="NCIT:C125705", source="OMIM:605724"} ! Fanconi anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen"} ! BRCA2

[Term]
id: MONDO:0011585
name: autosomal recessive distal spinal muscular atrophy 2
def: "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)." [Orphanet:139552]
subset: gard_rare {source="GARD:10133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139552"}
subset: orphanet_rare {source="Orphanet:139552"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive distal spinal muscular atrophy type 2" EXACT [DOID:0111065, MONDORULE:1, Orphanet:139552]
synonym: "dHMNJ" EXACT [DOID:0111065, Orphanet:139552]
synonym: "distal hereditary motor neuropathy Jerash type" EXACT [DOID:0111065]
synonym: "distal hereditary motor neuropathy, Jerash type" RELATED [Orphanet:139552]
synonym: "DSMA2" EXACT ABBREVIATION [DOID:0111065, MONDO:Lexical, OMIM:605726]
synonym: "hereditary motor neuropathy, Jerash type" RELATED [GARD:0010133]
synonym: "HMNJ" RELATED ABBREVIATION [GARD:0010133]
synonym: "MNDJ" RELATED ABBREVIATION [GARD:0010133]
synonym: "motor neuropathy, distal, Jerash type" RELATED [GARD:0010133]
synonym: "neuronopathy, distal hereditary motor, Jerash type" RELATED [OMIM:605726]
synonym: "neuropathy, distal hereditary motor, Jerash type" RELATED [GARD:0010133, OMIM:605726]
synonym: "spinal muscular atrophy Jerash type" EXACT [DOID:0111065]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 2" RELATED [MONDO:Lexical, OMIM:605726]
synonym: "spinal muscular atrophy, distal, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:605726]
synonym: "spinal muscular atrophy, Jerash type" RELATED [OMIM:605726]
xref: DOID:0111065 {source="MONDO:equivalentTo"}
xref: GARD:10133 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="DOID:0111065", source="Orphanet:139552/attributed", source="Orphanet:139552/ntbt", source="Orphanet:139552"}
xref: MEDGEN:344189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535715 {source="MONDO:equivalentTo"}
xref: OMIM:605726 {source="Orphanet:139552/e", source="MONDO:equivalentTo", source="DOID:0111065", source="Orphanet:139552"}
xref: Orphanet:139552 {source="MONDO:equivalentTo", source="OMIM:605726", source="DOID:0111065"}
xref: SCTID:763533003 {source="MONDO:equivalentTo"}
xref: UMLS:C1854023 {source="MEDGEN:344189", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DC-OMIM:605726", source="DOID:0111065", source="MESH:C535715"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="Orphanet:139552"} ! neuronopathy, distal hereditary motor, autosomal recessive

[Term]
id: MONDO:0011586
name: otosclerosis 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "otosclerosis 2" EXACT [MONDO:Lexical, OMIM:605727]
synonym: "OTSC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605727]
xref: DOID:0060921 {source="MONDO:equivalentTo"}
xref: MEDGEN:340117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565302 {source="MONDO:equivalentTo"}
xref: OMIM:605727 {source="MONDO:equivalentTo"}
xref: Orphanet:2794 {source="OMIM:605727"}
xref: UMLS:C1854022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340117"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005349 {source="DC-OMIM:605727", source="MESH:C565302", source="OMIM:605727"} ! otosclerosis

[Term]
id: MONDO:0011587
name: cataract 25
def: "A cataract that has material basis in variation in the region 15q21-q22." [DOID:0110254, PMID:11133359]
subset: gard_rare {source="GARD:18232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 25" EXACT [MONDO:Lexical, OMIM:605728]
synonym: "cataract type 25" EXACT [DOID:0110254, MONDORULE:2]
synonym: "cataract, central pouch-like, with sutural opacities" RELATED [OMIM:605728]
synonym: "cataract, central saccular, with sutural opacities" RELATED [OMIM:605728]
synonym: "CCSSO" EXACT ABBREVIATION [DOID:0110254]
synonym: "central pouch-like cataract with sutural opacities" EXACT [DOID:0110254]
synonym: "central saccular cataract with sutural opacities" EXACT [DOID:0110254]
synonym: "CTRCT25" EXACT ABBREVIATION [DOID:0110254, MONDO:Lexical, OMIM:605728]
synonym: "early-onset cataract with Y-shaped suture opacities" RELATED EXCLUDE [DOID:0110254]
xref: DOID:0110254 {source="MONDO:equivalentTo"}
xref: GARD:18232 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110254"}
xref: MEDGEN:340116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565301 {source="MONDO:equivalentTo"}
xref: OMIM:605728 {source="MONDO:equivalentTo", source="DOID:0110254"}
xref: Orphanet:91492 {source="OMIM:605728"}
xref: Orphanet:98985 {source="OMIM:605728", source="DOID:0110254"}
xref: UMLS:C1854021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340116"}
is_a: MONDO:0005129 {source="DOID:0110254", source="MESH:C565301", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:605728"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
is_a: MONDO:0020372 {source="Orphanet:98985/btnt"} ! early-onset sutural cataract
is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract
is_a: MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt"} ! early-onset zonular cataract

[Term]
id: MONDO:0011588
name: platelet-type bleeding disorder 12
def: "An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity." [DOID:0111058, PMID:8562397]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDPLT12" EXACT ABBREVIATION [DOID:0111058, MONDO:Lexical, OMIM:605735]
synonym: "bleeding disorder, platelet-type, 12" RELATED [MONDO:Lexical, OMIM:605735]
synonym: "PGHS1 deficiency" EXACT [DOID:0111058]
synonym: "platelet COX1 deficiency" EXACT [DOID:0111058]
synonym: "platelet cyclooxygenase 1 deficiency" EXACT [DOID:0111058]
synonym: "platelet prostaglandin-endoperoxide synthase 1 deficiency" EXACT [DOID:0111058]
synonym: "prostaglandin-endoperoxide synthase 1 deficiency, platelet" RELATED [OMIM:605735]
xref: DOID:0111058 {source="MONDO:equivalentTo"}
xref: MEDGEN:414043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567786 {source="MONDO:equivalentTo"}
xref: OMIM:605735 {source="MONDO:equivalentTo", source="DOID:0111058"}
xref: UMLS:C2751535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414043"}
is_a: MONDO:0000009 {source="DC-OMIM:605735", source="OMIM:605735"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0001531 {source="DOID:0111058", source="MONDO:Redundant"} ! blood coagulation disease
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020116"} ! rare

[Term]
id: MONDO:0011589
name: microphthalmia with coloboma 2
subset: gard_rare {source="GARD:15385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPCB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605738]
synonym: "microphthalmia, colobomatous, isolated 2" RELATED [OMIM:605738]
synonym: "microphthalmia, isolated, with coloboma 2" RELATED [MONDO:Lexical, OMIM:605738]
xref: GARD:15385 {source="MONDO:GARD"}
xref: MEDGEN:343030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565300 {source="MONDO:equivalentTo"}
xref: OMIM:605738 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:605738"}
xref: UMLS:C1854018 {source="MEDGEN:343030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:605738", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma

[Term]
id: MONDO:0011590
name: anisomastia
synonym: "anisomastia" EXACT [OMIM:605746]
xref: MEDGEN:381317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565299 {source="MONDO:equivalentTo"}
xref: OMIM:605746 {source="MONDO:equivalentTo"}
xref: UMLS:C1854013 {source="MEDGEN:381317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011591
name: cataract 26 multiple types
def: "A cataract that has material basis in variation in the region 9q13-q22." [DOID:0110246, PMID:11179024]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 26, multiple types" RELATED [MONDO:Lexical, OMIM:605749]
synonym: "cataract, autosomal recessive, early-onset, pulverulent" RELATED [OMIM:605749]
synonym: "CTRCT26" EXACT ABBREVIATION [DOID:0110246, MONDO:Lexical, OMIM:605749]
xref: DOID:0110246 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110246"}
xref: MEDGEN:381316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565298 {source="MONDO:equivalentTo"}
xref: OMIM:605749 {source="MONDO:equivalentTo", source="DOID:0110246"}
xref: Orphanet:91492 {source="OMIM:605749"}
xref: Orphanet:98984 {source="OMIM:605749", source="MONDO:directSiblingOf"}
xref: UMLS:C1854003 {source="MEDGEN:381316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110246", source="MESH:C565298", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:605749"} ! cataract
is_a: MONDO:0011060 {source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract

[Term]
id: MONDO:0011592
name: exudative vitreoretinopathy 3
subset: gard_rare {source="GARD:15386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EVR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605750]
synonym: "exudative vitreoretinopathy 3" EXACT [MONDO:Lexical, OMIM:605750]
xref: DOID:0111409 {source="MONDO:equivalentTo"}
xref: GARD:15386 {source="MONDO:GARD"}
xref: MEDGEN:344184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565297 {source="MONDO:equivalentTo"}
xref: OMIM:605750 {source="MONDO:equivalentTo"}
xref: Orphanet:891 {source="OMIM:605750"}
xref: UMLS:C1854002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344184"}
is_a: MONDO:0019516 {source="DC-OMIM:605750", source="OMIM:605750"} ! exudative vitreoretinopathy

[Term]
id: MONDO:0011593
name: seizures, benign familial infantile, 2
subset: gard_rare {source="GARD:16504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BFIS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605751]
synonym: "convulsions, benign familial infantile, 2" RELATED [OMIM:605751]
synonym: "seizures, benign familial infantile, 2" EXACT [MONDO:Lexical, OMIM:605751]
synonym: "seizures, benign familial infantile, type 2" EXACT [MONDORULE:1, OMIM:605751]
xref: DOID:0081115 {source="MONDO:equivalentTo"}
xref: GARD:16504 {source="MONDO:GARD"}
xref: MEDGEN:381313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565296 {source="MONDO:equivalentTo"}
xref: OMIM:605751 {source="MONDO:equivalentTo"}
xref: Orphanet:306 {source="OMIM:605751"}
xref: UMLS:C1853995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381313"}
is_a: MONDO:0017615 {source="DC-OMIM:605751", source="OMIM:605751"} ! benign familial infantile epilepsy
is_a: MONDO:0100556 {source="PMID:33746883", source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! PRRT2-associated paroxysmal movement disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="OMIM:605751"} ! PRRT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI

[Term]
id: MONDO:0011594
name: ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis
synonym: "gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis" RELATED [OMIM:605756]
synonym: "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" EXACT [OMIM:605756]
xref: MEDGEN:460321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605756 {source="MONDO:equivalentTo"}
xref: UMLS:C3148970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:460321"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011595
name: nonsyndromic congenital nail disorder 7
comment: Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49
subset: gard_rare {source="GARD:9761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79144"}
subset: orphanet_rare {source="Orphanet:79144"}
subset: rare
synonym: "COIF" EXACT ABBREVIATION [Orphanet:79144]
synonym: "COIF syndrome" EXACT [Orphanet:79144]
synonym: "congenital isolated nail dysplasia" RELATED [GARD:0009761]
synonym: "congenital onychodysplasia of the index fingers" EXACT [Orphanet:79144]
synonym: "Iso-Kikuchi syndrome" EXACT [Orphanet:79144]
synonym: "isolated congenital nail dysplasia" RELATED [GARD:0009761]
synonym: "isolated congenital onychodysplasia" RELATED [Orphanet:79144]
synonym: "nail disorder, nonsyndromic congenital, 7" RELATED [MONDO:Lexical, OMIM:605779]
synonym: "nail dysplasia, isolated congenital" RELATED [GARD:0009761]
synonym: "NDNC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605779]
synonym: "nonsyndromic congenital nail disorder type 7" EXACT [DOID:0080085, MONDORULE:1]
synonym: "onychodysplasia, isolated congenital" RELATED [OMIM:605779]
xref: DOID:0080085 {source="MONDO:equivalentTo"}
xref: GARD:9761 {source="MONDO:GARD"}
xref: ICD10CM:Q84.6 {source="Orphanet:79144", source="Orphanet:79144/attributed", source="Orphanet:79144/ntbt"}
xref: MEDGEN:1803839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538333 {source="MONDO:equivalentTo"}
xref: OMIM:605779 {source="Orphanet:79144/e", source="DOID:0080085", source="MONDO:equivalentTo", source="Orphanet:79144"}
xref: Orphanet:79144 {source="OMIM:605779", source="MONDO:equivalentTo"}
xref: SCTID:403281007 {source="MONDO:equivalentTo"}
xref: UMLS:C5574953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803839"}
is_a: MONDO:0019284 {source="DC-OMIM:605779", source="OMIM:605779", source="Orphanet:79144"} ! inherited isolated nail anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011596
name: dermatitis, atopic, 2
def: "An inherited susceptibility or predisposition to developing atopic dermatitis in which the cause of the disease is a mutation in the FLG gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "ATOD2" EXACT ABBREVIATION [DOID:0110098, MONDO:Lexical, OMIM:605803]
synonym: "atopic dermatitis 2" EXACT [DOID:0110098]
synonym: "atopic dermatitis type 2" EXACT [DOID:0110098, MONDORULE:1]
synonym: "atopic eczema caused by mutation in FLG" EXACT [MONDO:design_pattern]
synonym: "dermatitis, ATOPIC, 2" RELATED [MONDO:Lexical, OMIM:605803]
synonym: "dermatitis, atopic, susceptibility to, 2" EXACT [OMIM:605803, OMIM:genemap2]
synonym: "dermatitis, Atopic, type 2" EXACT [MONDORULE:1, OMIM:605803]
synonym: "FLG atopic eczema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110098 {source="MONDO:equivalentTo"}
xref: MEDGEN:340100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565293 {source="MONDO:equivalentTo"}
xref: OMIM:605803 {source="MONDO:equivalentTo", source="DOID:0110098"}
xref: UMLS:C1853965 {source="MEDGEN:340100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100178 {source="OMIM:605803"} ! dermatitis, atopic, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3748 ! FLG
intersection_of: predisposes_towards MONDO:0004980 ! atopic eczema
relationship: excluded_subClassOf MONDO:0003847 {source="MESH:C565293/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:605803", source="DOID:0110098", source="MONDO:Redundant", source="OMIM:605803", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema
relationship: excluded_subClassOf MONDO:0013295 {source="OMIM:605803", source="https://orcid.org/0000-0001-5208-3432"} ! dermatitis, atopic, 9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3748 {source="MONDO:mim2gene_medgen"} ! FLG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011597
name: dermatitis, atopic, 3
def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p." [DOID:0110099, PMID:11279517] {comment="MONDO:patterns/inherited_susceptibility"}
synonym: "ATOD3" EXACT ABBREVIATION [DOID:0110099, MONDO:Lexical, OMIM:605804]
synonym: "atopic dermatitis 3" EXACT []
synonym: "atopic dermatitis type 3" EXACT [DOID:0110099, MONDORULE:1]
synonym: "atopic dermatitis with asthma" EXACT [DOID:0110099]
synonym: "dermatitis, ATOPIC, 3" RELATED [MONDO:Lexical, OMIM:605804]
synonym: "dermatitis, atopic, susceptibility to, 3" EXACT [OMIM:605804, OMIM:genemap2]
synonym: "dermatitis, Atopic, with asthma" RELATED [OMIM:605804]
xref: DOID:0110099 {source="MONDO:equivalentTo"}
xref: MEDGEN:344173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565292 {source="MONDO:equivalentTo"}
xref: OMIM:605804 {source="MONDO:equivalentTo", source="DOID:0110099"}
xref: UMLS:C1853964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344173"}
is_a: MONDO:0100178 {source="OMIM:605804"} ! dermatitis, atopic, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="MESH:C565292/inferred", source="OMIM:605804", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:605804", source="DOID:0110099", source="MESH:C565292/inferred", source="OMIM:605804", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011598
name: dermatitis, atopic, 4
def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3." [DOID:0110100, MONDO:patterns/inherited_susceptibility, PMID:11279517]
synonym: "ATOD4" EXACT ABBREVIATION [DOID:0110100, MONDO:Lexical, OMIM:605805]
synonym: "atopic dermatitis 4" EXACT []
synonym: "atopic dermatitis type 4" EXACT [DOID:0110100, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 4" RELATED [MONDO:Lexical, OMIM:605805]
synonym: "dermatitis, atopic, susceptibility to, 4" EXACT [OMIM:605805, OMIM:genemap2]
xref: DOID:0110100 {source="MONDO:equivalentTo"}
xref: MEDGEN:340099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565291 {source="MONDO:equivalentTo"}
xref: OMIM:605805 {source="MONDO:equivalentTo", source="DOID:0110100"}
xref: UMLS:C1853963 {source="MONDO:equivalentTo", source="MEDGEN:340099", source="MONDO:MEDGEN"}
is_a: MONDO:0100178 {source="OMIM:605805"} ! dermatitis, atopic, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="MESH:C565291/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:605805", source="DOID:0110100", source="OMIM:605805", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011599
name: birdshot chorioretinopathy
def: "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." [Orphanet:179]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559)
subset: gard_rare {source="GARD:5926", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:179"}
subset: orphanet_rare {source="Orphanet:179"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "birdshot chorioretinitis" EXACT [DOID:0111079, Orphanet:179]
synonym: "birdshot chorioretinopathy" EXACT [OMIM:605808]
synonym: "birdshot retinochoroiditis" EXACT [DOID:0111079, Orphanet:179]
synonym: "birdshot retinochoroidopathy" EXACT [DOID:0111079, Orphanet:179]
synonym: "BSCR" EXACT ABBREVIATION [DOID:0111079]
synonym: "Bscr" RELATED [OMIM:605808]
synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disc" RELATED OMO:0003005 []
synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk" RELATED [GARD:0005926]
synonym: "vitiliginous choroiditis" EXACT [DOID:0111079, Orphanet:179]
xref: DOID:0111079 {source="MONDO:equivalentTo"}
xref: GARD:5926 {source="MONDO:GARD"}
xref: ICD10CM:H30.1 {source="Orphanet:179/ntbt", source="DOID:0111079", source="Orphanet:179"}
xref: MEDGEN:340098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537630 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"}
xref: OMIM:605808 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"}
xref: Orphanet:179 {source="MONDO:equivalentTo", source="DOID:0111079", source="OMIM:605808"}
xref: SCTID:231981005 {source="MONDO:equivalentTo"}
xref: UMLS:C1853959 {source="MEDGEN:340098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006918 {source="DOID:0111079", source="MESH:C537630/inferred", source="MONDO:Redundant"} ! posterior uveitis
relationship: excluded_subClassOf MONDO:0001280 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! choroiditis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy" xsd:anyURI {source="GARD:0005926"}

[Term]
id: MONDO:0011600
name: congenital myasthenic syndrome 4A
def: "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." [DOID:0110678, PMID:12141316, PMID:25792100, PMID:7531341]
subset: gard_rare {source="GARD:15387", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS Ia1" EXACT [DOID:0110678]
synonym: "Cms Ia1" RELATED [OMIM:605809]
synonym: "Cms Ia1, formerly" RELATED [OMIM:605809]
synonym: "CMS1A1" EXACT ABBREVIATION [DOID:0110678]
synonym: "CMS4A" EXACT ABBREVIATION [DOID:0110678, MONDO:Lexical, OMIM:605809]
synonym: "congenital myasthenic syndrome 4A slow-channel" EXACT [DOID:0110678]
synonym: "congenital myasthenic syndrome type 4A" EXACT [DOID:0110678, MONDORULE:4]
synonym: "congenital myasthenic syndrome type Ia1" RELATED [OMIM:605809]
synonym: "congenital myasthenic syndrome type Ia1, formerly" RELATED [OMIM:605809]
synonym: "congenital myasthenic syndrometype Ia1" EXACT [DOID:0110678]
synonym: "myasthenic syndrome, congenital, 4A, slow-channel" RELATED [MONDO:Lexical, OMIM:605809]
xref: DOID:0110678 {source="MONDO:equivalentTo"}
xref: GARD:15387 {source="MONDO:GARD"}
xref: MEDGEN:908188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605809 {source="DOID:0110678", source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:605809"}
xref: UMLS:C4225413 {source="MEDGEN:908188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110678", source="MONDO:Redundant", source="OMIM:605809"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1966 {source="MONDO:mim2gene_medgen"} ! CHRNE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011601
name: neonatal intrahepatic cholestasis due to citrin deficiency
def: "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." [Orphanet:247598]
subset: gard_rare {source="GARD:10214", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247598"}
subset: orphanet_rare {source="Orphanet:247598"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cholestasis, neonatal intrahepatic, caused by citrin deficiency" RELATED [OMIM:605814]
synonym: "citrullinemia, type II, neonatal-onset" RELATED [OMIM:605814]
synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia" RELATED OMO:0003005 []
synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia" RELATED [OMIM:605814]
synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT [Orphanet:247598]
synonym: "neonatal intrahepatic cholestasis due to citrin deficiency" EXACT CLINGEN_LABEL []
synonym: "neonatal-onset citrullinemia type 2" RELATED [GARD:0010214]
synonym: "neonatal-onset citrullinemia type II" RELATED [GARD:0010214]
synonym: "NICCD" EXACT ABBREVIATION [Orphanet:247598]
xref: DOID:0070341 {source="MONDO:equivalentTo"}
xref: GARD:10214 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:247598", source="Orphanet:247598/attributed", source="Orphanet:247598/ntbt"}
xref: MEDGEN:340091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536398 {source="MONDO:equivalentTo"}
xref: NANDO:1200979 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:605814 {source="Orphanet:247598", source="MONDO:equivalentTo", source="Orphanet:247598/e"}
xref: Orphanet:247598 {source="MONDO:equivalentTo", source="OMIM:605814"}
xref: SCTID:717155003 {source="MONDO:equivalentTo"}
xref: UMLS:C1853942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340091"}
is_a: MONDO:0016602 {source="Orphanet:247598"} ! citrin deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10983 {source="MONDO:mim2gene_medgen"} ! SLC25A13

[Term]
id: MONDO:0011602
name: autosomal recessive nonsyndromic hearing loss 27
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31." [DOID:0110485, PMID:11175289]
subset: gard_rare {source="GARD:22600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 27" NARROW [DOID:0110485]
synonym: "autosomal recessive nonsyndromic deafness 27" NARROW [OMIM:605818]
synonym: "autosomal recessive nonsyndromic deafness type 27" NARROW [DOID:0110485, MONDORULE:2]
synonym: "deafness, autosomal recessive 27" NARROW [MONDO:Lexical, OMIM:605818, OMIM:genemap2]
synonym: "DFNB27" NARROW ABBREVIATION [DOID:0110485, MONDO:Lexical, OMIM:605818]
xref: DOID:0110485 {source="MONDO:equivalentTo"}
xref: GARD:22600 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110485"}
xref: MEDGEN:381303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565287 {source="MONDO:equivalentTo"}
xref: OMIM:605818 {source="MONDO:equivalentTo", source="DOID:0110485"}
xref: Orphanet:90636 {source="OMIM:605818"}
xref: UMLS:C1853941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381303"}
is_a: MONDO:0019588 {source="DC-OMIM:605818", source="DOID:0110485", source="OMIM:605818"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011603
name: GNE myopathy
def: "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." [Orphanet:602]
subset: gard_rare {source="GARD:9493", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2011"}
subset: ordo_disorder {source="Orphanet:602"}
subset: orphanet_rare {source="Orphanet:602"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal myopathy with rimmed vacuoles" EXACT [Orphanet:602]
synonym: "distal myopathy, Nonaka type" EXACT [Orphanet:602]
synonym: "DMRV" EXACT ABBREVIATION [Orphanet:602]
synonym: "hereditary inclusion body myopathy type 2" EXACT [Orphanet:602]
synonym: "HIBM2" EXACT ABBREVIATION [Orphanet:602]
synonym: "IBM2" EXACT ABBREVIATION [Orphanet:602]
synonym: "inclusion body myopathy 2, autosomal recessive" RELATED [OMIM:605820]
synonym: "inclusion body myopathy 2, autosomal recessive, formerly" RELATED [OMIM:605820]
synonym: "inclusion body myopathy autosomal recessive" EXACT [OMIM:605820]
synonym: "inclusion body myopathy type 2" EXACT [Orphanet:602]
synonym: "inclusion body myopathy, autosomal recessive" RELATED [GARD:0009493]
synonym: "inclusion body myopathy, hereditary, autosomal recessive" RELATED [OMIM:605820]
synonym: "inclusion body myopathy, quadriceps-sparing" RELATED [GARD:0009493, OMIM:605820]
synonym: "myopathy, distal, with or without rimmed vacuoles" RELATED [OMIM:605820]
synonym: "myopathy, distal, with rimmed vacuoles" RELATED [OMIM:605820]
synonym: "NM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605820]
synonym: "Nonaka distal myopathy" RELATED [OMIM:605820]
synonym: "Nonaka myopathy" EXACT [MONDO:Lexical, OMIM:605820, Orphanet:602]
synonym: "QSM" RELATED ABBREVIATION [GARD:0009493]
synonym: "quadriceps sparing myopathy" RELATED [GARD:0009493]
synonym: "quadriceps-sparing myopathy" EXACT [Orphanet:602]
synonym: "rimmed vacuole myopathy" RELATED [GARD:0009493]
xref: DOID:0080718 {source="MONDO:equivalentTo"}
xref: GARD:9493 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:602/attributed", source="Orphanet:602/ntbt", source="Orphanet:602"}
xref: MEDGEN:381298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536816 {source="Orphanet:602", source="Orphanet:602/e"}
xref: NANDO:1200218 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:2011 {source="MONDO:NORD"}
xref: OMIM:605820 {source="Orphanet:602", source="MONDO:equivalentTo", source="Orphanet:602/e"}
xref: Orphanet:602 {source="OMIM:605820", source="MONDO:equivalentTo"}
xref: SCTID:702382000 {source="MONDO:equivalentTo"}
xref: UMLS:C1853926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381298"}
is_a: MONDO:0007827 {source="OMIM:605820/inferred"} ! inclusion body myositis
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0016112 {source="Orphanet:602"} ! hereditary inclusion-body myopathy
is_a: MONDO:0017749 {source="Orphanet:602"} ! disorder of multiple glycosylation
is_a: MONDO:0018795 {source="Orphanet:602"} ! syndromic constitutional thrombocytopenia
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23657 {source="MONDO:mim2gene_medgen"} ! GNE

[Term]
id: MONDO:0011604
name: spondylo-ocular syndrome
def: "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." [Orphanet:85194]
subset: gard_rare {source="GARD:16740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85194"}
subset: ordo_malformation_syndrome {source="Orphanet:85194"}
subset: orphanet_rare {source="Orphanet:85194"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605822]
synonym: "spondyloocular syndrome" RELATED [MONDO:Lexical, OMIM:605822]
xref: GARD:16740 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:85194", source="Orphanet:85194/attributed", source="Orphanet:85194/ntbt"}
xref: MEDGEN:900371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605822 {source="Orphanet:85194/e", source="MONDO:equivalentTo", source="Orphanet:85194"}
xref: Orphanet:85194 {source="OMIM:605822", source="MONDO:equivalentTo"}
xref: SCTID:715653007 {source="MONDO:equivalentTo"}
xref: UMLS:C4225412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900371"}
is_a: MONDO:0020247 {source="Orphanet:85194"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: disease_has_feature HP:0004349 {source="Orphanet:85194"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:85194", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15517 {source="MONDO:mim2gene_medgen"} ! XYLT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011605
name: generalized basaloid follicular hamartoma syndrome
def: "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." [Orphanet:168632]
subset: gard_rare {source="GARD:17042", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168632"}
subset: orphanet_rare {source="Orphanet:168632"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605827]
synonym: "GBFHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605827]
xref: GARD:17042 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:168632/attributed", source="Orphanet:168632/ntbt", source="Orphanet:168632"}
xref: MEDGEN:343009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565284 {source="MONDO:equivalentTo"}
xref: OMIM:605827 {source="Orphanet:168632", source="MONDO:equivalentTo", source="Orphanet:168632/e"}
xref: Orphanet:168632 {source="MONDO:equivalentTo", source="OMIM:605827"}
xref: SCTID:766928004 {source="MONDO:equivalentTo"}
xref: UMLS:C1853919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343009"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0100118 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary skin disorder
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:168632", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011606
name: baby rattle pelvis dysplasia
subset: gard_rare {source="GARD:9289", source="MONDO:GARD"}
subset: rare
synonym: "baby rattle pelvic dysplasia" RELATED [GARD:0009289]
synonym: "baby rattle pelvis dysplasia" EXACT [OMIM:605838]
xref: GARD:9289 {source="MONDO:GARD"}
xref: MEDGEN:340083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537794 {source="MONDO:equivalentTo"}
xref: MESH:C565282 {source="MONDO:equivalentTo"}
xref: OMIM:605838 {source="MONDO:equivalentTo", source="GARD:0009289"}
xref: UMLS:C1853911 {source="MEDGEN:340083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C537794/inferred"} ! hereditary disease
is_a: MONDO:0007037 {source="MESH:C537794"} ! Achondroplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia" xsd:anyURI {source="GARD:0009289"}

[Term]
id: MONDO:0011607
name: narcolepsy 2, susceptibility to
subset: predisposition
synonym: "narcolepsy 2" RELATED [OMIM:605841, OMIM:genemap2]
synonym: "narcolepsy 2, susceptibility to" EXACT [OMIM:605841]
synonym: "NRCLP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605841]
xref: MEDGEN:381293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605841 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:605841"}
xref: UMLS:C1853901 {source="MEDGEN:381293", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100049 {source="DC-OMIM:605841"} ! narcolepsy, susceptibility to
relationship: predisposes_towards MONDO:0021107 {source="OMIM:605841"} ! narcolepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011608
name: dermatitis, atopic, 5
def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 13q12-q14." [DOID:0110101, MONDO:patterns/inherited_susceptibility, PMID:11069631]
synonym: "ATOD5" EXACT ABBREVIATION [DOID:0110101, MONDO:Lexical, OMIM:605844]
synonym: "atopic dermatitis 5" EXACT []
synonym: "atopic dermatitis type 5" EXACT [DOID:0110101, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 5" RELATED [MONDO:Lexical, OMIM:605844]
synonym: "dermatitis, atopic, susceptibility to, 5" EXACT [OMIM:605844, OMIM:genemap2]
xref: DOID:0110101 {source="MONDO:equivalentTo"}
xref: MEDGEN:381292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565280 {source="MONDO:equivalentTo"}
xref: OMIM:605844 {source="MONDO:equivalentTo", source="DOID:0110101"}
xref: UMLS:C1853900 {source="MEDGEN:381292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100178 {source="OMIM:605844"} ! dermatitis, atopic, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="MESH:C565280/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:605844", source="DOID:0110101", source="OMIM:605844", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011609
name: dermatitis, atopic, 6
def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 5q31-q33." [DOID:0110102, MONDO:patterns/inherited_susceptibility, PMID:11069631]
synonym: "ATOD6" EXACT ABBREVIATION [DOID:0110102, MONDO:Lexical, OMIM:605845]
synonym: "atopic dermatitis 6" EXACT []
synonym: "atopic dermatitis type 6" EXACT [DOID:0110102, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 6" RELATED [MONDO:Lexical, OMIM:605845]
synonym: "dermatitis, atopic, susceptibility to, 6" EXACT [OMIM:605845, OMIM:genemap2]
xref: DOID:0110102 {source="MONDO:equivalentTo"}
xref: MEDGEN:344154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565279 {source="MONDO:equivalentTo"}
xref: OMIM:605845 {source="MONDO:equivalentTo", source="DOID:0110102"}
xref: UMLS:C1853899 {source="MEDGEN:344154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100178 {source="OMIM:605845"} ! dermatitis, atopic, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="MESH:C565279/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:605845", source="DOID:0110102", source="OMIM:605845", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011610
name: dimethylglycine dehydrogenase deficiency
def: "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:243343]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17185", source="MONDO:GARD"}
subset: n_of_one {source="Orphanet:243343-textdef"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:243343"}
subset: orphanet_rare {source="Orphanet:243343"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dimethylglycine dehydrogenase activity disease" EXACT [MONDO:design_pattern]
synonym: "dimethylglycine dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605850]
synonym: "disorder of dimethylglycine dehydrogenase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "DMG dehydrogenase deficiency" EXACT [Orphanet:243343]
synonym: "DMGDH deficiency" EXACT [Orphanet:243343]
synonym: "Dmgdh deficiency" RELATED [OMIM:605850]
synonym: "DMGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605850]
xref: DOID:0081446 {source="MONDO:equivalentTo"}
xref: GARD:17185 {source="MONDO:GARD"}
xref: ICD10CM:E72.5 {source="Orphanet:243343", source="Orphanet:243343/attributed", source="Orphanet:243343/ntbt"}
xref: MEDGEN:343006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565278 {source="MONDO:equivalentTo"}
xref: OMIM:605850 {source="Orphanet:243343", source="MONDO:equivalentTo", source="Orphanet:243343/e"}
xref: Orphanet:243343 {source="MONDO:equivalentTo", source="OMIM:605850"}
xref: SCTID:719449007 {source="MONDO:equivalentTo"}
xref: UMLS:C1853892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343006"}
is_a: MONDO:0100477 {source="PMID:33340416"} ! disorder of methylamine metabolism
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0047865 ! dimethylglycine dehydrogenase activity
relationship: disease_has_basis_in_disruption_of GO:0047865 ! dimethylglycine dehydrogenase activity
relationship: excluded_subClassOf MONDO:0019239 {source="Orphanet:243343", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of serine family metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24475 {source="MONDO:mim2gene_medgen"} ! DMGDH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0011611
name: short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting
synonym: "short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting" EXACT [OMIM:605856]
synonym: "short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting" EXACT DEPRECATED [OMIM:605856]
xref: MEDGEN:370814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566989 {source="MONDO:equivalentTo"}
xref: OMIM:605856 {source="MONDO:equivalentTo"}
xref: UMLS:C1970039 {source="MEDGEN:370814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566989/inferred"} ! hereditary disease

[Term]
id: MONDO:0011612
name: glycine encephalopathy
def: "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." [Orphanet:407]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1512"}
subset: ordo_disorder {source="Orphanet:407"}
subset: orphanet_rare {source="Orphanet:407"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GCE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605899]
synonym: "GLYCINE encephalopathy" RELATED [OMIM:605899]
synonym: "glycine encephalopathy" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605899]
synonym: "Glycine synthase deficiency" RELATED [GARD:0007219]
synonym: "hyperglycinemia nonketotic" RELATED [GARD:0007219]
synonym: "hyperglycinemia, Nonketotic" RELATED [OMIM:605899]
synonym: "hyperglycinemia, transient neonatal" RELATED [OMIM:605899]
synonym: "NKA" EXACT ABBREVIATION [Orphanet:407]
synonym: "non-ketotic hyperglycinemia" EXACT [DOID:9268, Orphanet:407]
synonym: "Nonketotic Hyperglycinemia" EXACT [NORD:1512]
synonym: "nonketotic hyperglycinemia" EXACT [DOID:9268]
xref: DOID:9268 {source="MONDO:equivalentTo"}
xref: GARD:7219 {source="MONDO:GARD"}
xref: ICD10CM:E72.5 {source="Orphanet:407/inclusion", source="Orphanet:407", source="Orphanet:407/ntbt"}
xref: ICD10CM:E72.51 {source="DOID:9268"}
xref: icd11.foundation:1491869639 {source="MONDO:equivalentTo", source="Orphanet:407"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:155625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020158 {source="DOID:9268"}
xref: NANDO:1200984 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200476 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84937 {source="MONDO:equivalentTo", source="DOID:9268"}
xref: NORD:1512 {source="MONDO:NORD"}
xref: OMIMPS:605899 {source="MONDO:equivalentTo"}
xref: Orphanet:407 {source="OMIM:605899", source="MONDO:equivalentTo"}
xref: SCTID:237939006 {source="MONDO:equivalentTo", source="DOID:9268"}
xref: UMLS:C0751748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155625"}
is_a: MONDO:0004736 {source="DOID:9268", source="MONDO:indirect"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0005560 {source="NCIT:C84937"} ! brain disorder
is_a: MONDO:0019239 {source="MONDO:Redundant", source="Orphanet:407"} ! inborn disorder of serine family metabolism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:605899"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy" xsd:anyURI {source="GARD:0007219"}

[Term]
id: MONDO:0011613
name: autosomal recessive early-onset Parkinson disease 6
def: "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18605", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive early-onset Parkinson disease type 6" RELATED [DOID:0060369, MONDORULE:1]
synonym: "autosomal recessive early-onset Parkinson's disease 6" RELATED [DOID:0060369]
synonym: "early-onset Parkinson disease 6" RELATED [DOID:0060369]
synonym: "PARK6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605909]
synonym: "Parkinson disease 6, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:605909]
synonym: "Parkinson disease 6, early onset" RELATED [OMIM:605909, OMIM:genemap2]
synonym: "Parkinson disease 6, early-onset" RELATED [OMIM:605909]
synonym: "Parkinson disease 6, late-onset, susceptibility to" RELATED [OMIM:605909]
synonym: "Parkinson disease caused by mutation in PINK1" EXACT [MONDO:design_pattern]
synonym: "Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1" RELATED [OMIM:605909]
synonym: "PINK1 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060369 {source="MONDO:equivalentTo"}
xref: GARD:18605 {source="MONDO:GARD"}
xref: MEDGEN:342982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565276 {source="MONDO:equivalentTo"}
xref: OMIM:605909 {source="DOID:0060369", source="MONDO:equivalentTo"}
xref: Orphanet:2828 {source="OMIM:605909"}
xref: UMLS:C1853833 {source="MEDGEN:342982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DOID:0060369/inferred", source="MESH:C565276", source="MONDO:Redundant", source="OMIM:605909"} ! Parkinson disease
is_a: MONDO:0017279 {source="DOID:0060369"} ! young-onset Parkinson disease
intersection_of: MONDO:0005180 ! Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14581 ! PINK1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14581 {source="MONDO:mim2gene_medgen"} ! PINK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011614
name: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
def: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death." [Orphanet:35701]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35701"}
subset: orphanet_rare {source="Orphanet:35701"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" EXACT CLINGEN_LABEL []
synonym: "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency" RELATED [MONDO:Lexical, OMIM:605911]
synonym: "HMG CoA synthetase deficiency" RELATED [GARD:0002712]
synonym: "HMG-CoA synthase deficiency" EXACT [Orphanet:35701]
synonym: "HMG-CoA synthase-2 deficiency" EXACT [OMIM:605911, OMIM:genemap2]
synonym: "Hmgcs2 deficiency" RELATED [OMIM:605911]
synonym: "HMGCS2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605911]
synonym: "mitochondrial HMG-Coa synthase deficiency" RELATED [OMIM:605911]
xref: DOID:0081168 {source="MONDO:equivalentTo"}
xref: GARD:2712 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:35701/attributed", source="Orphanet:35701/ntbt", source="Orphanet:35701"}
xref: MEDGEN:414399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567784 {source="MONDO:equivalentTo"}
xref: NANDO:2200498 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:605911 {source="Orphanet:35701", source="MONDO:equivalentTo", source="Orphanet:35701/e"}
xref: Orphanet:35701 {source="OMIM:605911", source="MONDO:equivalentTo"}
xref: SCTID:725286002 {source="MONDO:equivalentTo"}
xref: UMLS:C2751532 {source="MEDGEN:414399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017713 {source="Orphanet:35701"} ! disorder of fatty acid oxidation and ketogenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5008 {source="MONDO:mim2gene_medgen"} ! HMGCS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011615
name: East Texas bleeding disorder
subset: gard_rare {source="GARD:17613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391320"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bdet" RELATED [OMIM:605913]
synonym: "bleeding disorder, EAST Texas type" RELATED [OMIM:605913]
xref: GARD:17613 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:391320", source="Orphanet:391320/attributed", source="Orphanet:391320/ntbt"}
xref: MEDGEN:342980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565275 {source="MONDO:equivalentTo"}
xref: OMIM:605913 {source="MONDO:equivalentTo", source="Orphanet:391320", source="Orphanet:391320/e"}
xref: Orphanet:391320 {source="MONDO:equivalentTo", source="OMIM:605913"}
xref: UMLS:C1853831 {source="MEDGEN:342980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease

[Term]
id: MONDO:0011616
name: holoprosencephaly 6
def: "A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3." [DOID:0110874, PMID:11343300]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "holoprosencephaly 6" EXACT [MONDO:Lexical, OMIM:605934]
synonym: "holoprosencephaly type 6" EXACT [DOID:0110874, MONDORULE:1]
synonym: "HPE6" EXACT ABBREVIATION [DOID:0110874, MONDO:Lexical, OMIM:605934]
xref: DOID:0110874 {source="MONDO:equivalentTo"}
xref: MEDGEN:342979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565274 {source="MONDO:equivalentTo"}
xref: OMIM:605934 {source="DOID:0110874", source="MONDO:equivalentTo"}
xref: Orphanet:2162 {source="OMIM:605934"}
xref: UMLS:C1853830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342979"}
is_a: MONDO:0016296 {source="DC-OMIM:605934", source="DOID:0110874", source="MESH:C565274", source="OMIM:605934"} ! holoprosencephaly

[Term]
id: MONDO:0011617
name: arthropathy, erosive
synonym: "arthropathy, erosive" EXACT [OMIM:605935]
xref: MEDGEN:342978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565273 {source="MONDO:equivalentTo"}
xref: OMIM:605935 {source="MONDO:equivalentTo"}
xref: UMLS:C1853829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342978"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011618
name: liver fibrocystic disease and polydactyly
synonym: "liver fibrocystic disease and polydactyly" EXACT [OMIM:605944]
xref: MEDGEN:381278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565272 {source="MONDO:equivalentTo"}
xref: OMIM:605944 {source="MONDO:equivalentTo"}
xref: UMLS:C1853827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381278"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011619
name: crumpled helices and small mouth
synonym: "crumpled helices and small mouth" EXACT [OMIM:605945]
synonym: "sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay" RELATED [GARD:0010078]
xref: MEDGEN:342976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536217 {source="MONDO:equivalentTo"}
xref: OMIM:605945 {source="MONDO:equivalentTo"}
xref: UMLS:C1853826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342976"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10078/crumpled-helices-and-small-mouth" xsd:anyURI {source="GARD:0010078"}

[Term]
id: MONDO:0011620
name: metaphyseal dysplasia, Braun-Tinschert type
def: "Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." [Orphanet:85188]
subset: gard_rare {source="GARD:16738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85188"}
subset: ordo_malformation_syndrome {source="Orphanet:85188"}
subset: orphanet_rare {source="Orphanet:85188"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "metaphyseal dysplasia, Braun-Tinschert type" EXACT [OMIM:605946]
xref: GARD:16738 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:85188", source="Orphanet:85188/attributed", source="Orphanet:85188/ntbt"}
xref: MEDGEN:381277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565271 {source="MONDO:equivalentTo"}
xref: OMIM:605946 {source="Orphanet:85188", source="MONDO:equivalentTo", source="Orphanet:85188/e"}
xref: Orphanet:85188 {source="MONDO:equivalentTo", source="OMIM:605946"}
xref: SCTID:717221005 {source="MONDO:equivalentTo"}
xref: UMLS:C1853825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381277"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="OMIM:605946"} ! hereditary disease
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:85188"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:85188", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0011621
name: acropectoral syndrome
def: "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." [Orphanet:85203]
subset: gard_rare {source="GARD:8485", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85203"}
subset: ordo_malformation_syndrome {source="Orphanet:85203"}
subset: orphanet_rare {source="Orphanet:85203"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acro-pectoral syndrome" RELATED [GARD:0008485]
synonym: "acropectoral syndrome" EXACT [MONDO:Lexical, OMIM:605967]
synonym: "ACRP syndrome" EXACT [OMIM:605967, Orphanet:85203]
synonym: "ACRPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605967]
synonym: "Dundar Acropectoral syndrome" RELATED [OMIM:605967]
synonym: "syndactyly, preaxial polydactyly and sternal deformity" RELATED [GARD:0008485]
synonym: "syndactyly, preaxial polydactyly, and sternal deformity" RELATED [OMIM:605967]
synonym: "syndactyly-preaxial polydactyly-sternal deformity syndrome" EXACT [Orphanet:85203]
xref: GARD:8485 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:85203/attributed", source="Orphanet:85203/ntbt", source="Orphanet:85203"}
xref: MEDGEN:342975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535664 {source="MONDO:equivalentTo"}
xref: OMIM:605967 {source="Orphanet:85203", source="MONDO:equivalentTo", source="Orphanet:85203/e"}
xref: Orphanet:85203 {source="MONDO:equivalentTo", source="OMIM:605967"}
xref: SCTID:720412009 {source="MONDO:equivalentTo"}
xref: UMLS:C1853812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342975"}
is_a: MONDO:0019054 {source="Orphanet:85203"} ! congenital limb malformation
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome" xsd:anyURI {source="GARD:0008485"}

[Term]
id: MONDO:0011622
name: nephrolithiasis, uric acid, susceptibility to
subset: predisposition
synonym: "nephrolithiasis, uric acid, susceptibility to" EXACT [OMIM:605990]
synonym: "susceptibility to uric acid nephrolithiasis" RELATED [OMIM:605990]
synonym: "UAN" RELATED ABBREVIATION [OMIM:605990]
synonym: "urolithiasis, uric acid, susceptibility to" RELATED [OMIM:605990]
xref: MEDGEN:397793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605990 {source="MONDO:equivalentTo"}
xref: UMLS:C2700426 {source="MEDGEN:397793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:605990"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0008171 ! nephrolithiasis

[Term]
id: MONDO:0011623
name: obsolete spinocerebellar ataxia, autosomal recessive 1
comment: duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/48" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018996

[Term]
id: MONDO:0011624
name: transaldolase deficiency
def: "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." [Orphanet:101028]
subset: gard_rare {source="GARD:10445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101028"}
subset: orphanet_rare {source="Orphanet:101028"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Eyaid syndrome" RELATED [OMIM:606003]
synonym: "TALDO deficiency" EXACT [Orphanet:101028]
synonym: "Taldo deficiency" RELATED [OMIM:606003]
synonym: "transaldolase deficiency" EXACT [OMIM:606003]
xref: GARD:10445 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:101028", source="Orphanet:101028/attributed", source="Orphanet:101028/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563207 {source="MONDO:equivalentTo"}
xref: OMIM:606003 {source="MONDO:equivalentTo", source="Orphanet:101028", source="Orphanet:101028/e"}
xref: Orphanet:101028 {source="MONDO:equivalentTo", source="OMIM:606003"}
xref: SCTID:124252008 {source="MONDO:equivalentTo"}
xref: UMLS:C1291329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224855"}
is_a: MONDO:0019231 {source="Orphanet:101028", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11559 {source="MONDO:mim2gene_medgen"} ! TALDO1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency" xsd:anyURI {source="GARD:0010445"}

[Term]
id: MONDO:0011625
name: autosomal dominant nonsyndromic hearing loss 18
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22." [DOID:0110549, PMID:11313754]
subset: gard_rare {source="GARD:18113", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 18" NARROW [DOID:0110549]
synonym: "autosomal dominant nonsyndromic deafness 18" NARROW [OMIM:606012]
synonym: "autosomal dominant nonsyndromic deafness type 18" NARROW [DOID:0110549, MONDORULE:2]
synonym: "deafness, autosomal dominant 18" NARROW [MONDO:Lexical, OMIM:606012, OMIM:genemap2]
synonym: "DFNA18" NARROW ABBREVIATION [DOID:0110549, MONDO:Lexical, OMIM:606012]
xref: DOID:0110549 {source="MONDO:equivalentTo"}
xref: GARD:18113 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110549"}
xref: MEDGEN:340051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565267 {source="MONDO:equivalentTo"}
xref: OMIM:606012 {source="DOID:0110549", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="OMIM:606012"}
xref: UMLS:C1853760 {source="MEDGEN:340051", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:606012", source="DOID:0110549", source="OMIM:606012"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011626
name: acromegaloid features, overgrowth, cleft palate, and hernia
synonym: "acromegaloid features, overgrowth, cleft palate and hernia" RELATED [GARD:0010194]
synonym: "acromegaloid features, overgrowth, cleft palate, and hernia" EXACT [OMIM:606049]
synonym: "Aoch" RELATED [OMIM:606049]
xref: MEDGEN:340050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535656 {source="MONDO:equivalentTo"}
xref: OMIM:606049 {source="MONDO:equivalentTo"}
xref: UMLS:C1853757 {source="MEDGEN:340050", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10194/acromegaloid-features-overgrowth-cleft-palate-and-hernia" xsd:anyURI {source="GARD:0010194"}

[Term]
id: MONDO:0011627
name: autism, susceptibility to, 5
subset: predisposition
synonym: "autism, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:606053]
synonym: "autism-related speech delay" RELATED [OMIM:606053]
synonym: "AUTS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606053]
synonym: "intellectual developmental disorder with autism and speech delay" EXACT [OMIM:606053, OMIM:genemap2]
synonym: "phrase speech delay, autism-related" RELATED [OMIM:606053]
xref: MEDGEN:340048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606053 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:606053"}
xref: UMLS:C1853755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340048"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011628
name: propionic acidemia
def: "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." [Orphanet:35]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:467", source="MONDO:GARD"}
subset: nord_rare {source="NORD:714", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35"}
subset: orphanet_rare {source="Orphanet:35"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GLYCINEMIA, ketotic" EXACT [DOID:14701]
synonym: "Glycinemia, ketotic" RELATED [OMIM:606054]
synonym: "hyperglycinemia with ketoacidosis and leukopenia" RELATED [OMIM:606054]
synonym: "ketotic glycinemia" EXACT [DOID:14701]
synonym: "ketotic hyperglycinemia" EXACT [DOID:14701, OMIM:606054, Orphanet:35]
synonym: "ketotic II glycinemia" EXACT [DOID:14701]
synonym: "PCC deficiency" RELATED [OMIM:606054]
synonym: "prop" RELATED [GARD:0000467]
synonym: "propionic acidemia" EXACT CLINGEN_LABEL [OMIM:606054]
synonym: "propionic aciduria" EXACT [DOID:14701, Orphanet:35]
synonym: "Propionicacidemia" RELATED [GARD:0000467]
synonym: "propionyl-CoA carboxylase deficiency" EXACT [DOID:14701, Orphanet:35]
synonym: "propionyl-Coa carboxylase deficiency" RELATED [OMIM:606054]
xref: DOID:14701 {source="MONDO:equivalentTo"}
xref: GARD:467 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:35/inclusion", source="Orphanet:35/ntbt", source="Orphanet:35"}
xref: ICD10CM:E71.121 {source="DOID:14701", source="MONDO:equivalentTo"}
xref: MEDGEN:75694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056693 {source="DOID:14701", source="Orphanet:35", source="MONDO:equivalentTo", source="Orphanet:35/e"}
xref: NANDO:1200792 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200492 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85030 {source="DOID:14701", source="MONDO:equivalentTo"}
xref: NORD:714 {source="MONDO:NORD"}
xref: OMIM:606054 {source="DOID:14701", source="Orphanet:35", source="MONDO:equivalentTo", source="Orphanet:35/e"}
xref: Orphanet:35 {source="MONDO:equivalentTo", source="OMIM:606054"}
xref: SCTID:124718009 {source="DOID:14701"}
xref: SCTID:18979005 {source="DOID:14701"}
xref: SCTID:237948001 {source="DOID:14701"}
xref: SCTID:360364008 {source="DOID:14701"}
xref: SCTID:367417005 {source="DOID:14701"}
xref: SCTID:69080001 {source="DOID:14701", source="MONDO:equivalentTo"}
xref: UMLS:C0268579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75694"}
is_a: MONDO:0000688 {source="DOID:14701", source="MONDO:Redundant", source="NCIT:C85030", source="Orphanet:35/inferred", source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0019215 {source="Orphanet:35"} ! classic organic aciduria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia" xsd:anyURI {source="GARD:0000467"}

[Term]
id: MONDO:0011629
name: MOGS-congenital disorder of glycosylation
def: "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)." [Orphanet:79330]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79330"}
subset: orphanet_rare {source="Orphanet:79330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIb" EXACT [Orphanet:79330]
synonym: "CDG 2B" RELATED [GARD:0010767]
synonym: "CDG IIb" RELATED [OMIM:606056]
synonym: "CDG syndrome type IIb" EXACT [Orphanet:79330]
synonym: "CDG-IIb" EXACT [Orphanet:79330]
synonym: "CDG2B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606056, Orphanet:79330]
synonym: "congenital disorder of glycosylation type 2b" EXACT [Orphanet:79330]
synonym: "congenital disorder of glycosylation type IIb" EXACT [Orphanet:79330]
synonym: "congenital disorder of glycosylation, type IIb" RELATED [MONDO:Lexical, OMIM:606056]
synonym: "GCS1-CDG" RELATED [GARD:0010767]
synonym: "glucosidase 1 deficiency" EXACT [OMIM:606056, Orphanet:79330]
synonym: "MOGS-CDG" EXACT ABBREVIATION [Orphanet:79330]
synonym: "MOGS-CDG (CDG-IIb)" RELATED [GARD:0010767]
synonym: "MOGS-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0070254 {source="MONDO:equivalentTo"}
xref: GARD:10767 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79330/attributed", source="Orphanet:79330/ntbt", source="Orphanet:79330"}
xref: MEDGEN:342954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565264 {source="MONDO:equivalentTo"}
xref: OMIM:606056 {source="Orphanet:79330/e", source="MONDO:equivalentTo", source="Orphanet:79330"}
xref: Orphanet:79330 {source="MONDO:equivalentTo", source="OMIM:606056"}
xref: SCTID:725028009 {source="MONDO:equivalentTo"}
xref: UMLS:C1853736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342954"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005501 {source="DC-OMIM:606056", source="OMIM:606056"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79330"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24862 {source="MONDO:mim2gene_medgen"} ! MOGS

[Term]
id: MONDO:0011630
name: retinitis pigmentosa 28
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FAM161A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 28" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606068]
synonym: "retinitis pigmentosa caused by mutation in FAM161A" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 28" EXACT [DOID:0110365, MONDORULE:2, OMIM:606068]
synonym: "RP 28" RELATED [GARD:0010394]
synonym: "RP28" EXACT ABBREVIATION [DOID:0110365, MONDO:Lexical, OMIM:606068]
xref: DOID:0110365 {source="MONDO:equivalentTo"}
xref: GARD:10394 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110365"}
xref: MEDGEN:244030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606068 {source="MONDO:equivalentTo", source="DOID:0110365"}
xref: UMLS:C1419614 {source="MEDGEN:244030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:606068", source="DOID:0110365", source="MONDO:Redundant", source="OMIM:606068"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25808 ! FAM161A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25808 {source="MONDO:mim2gene_medgen"} ! FAM161A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10394/retinitis-pigmentosa-28" xsd:anyURI {source="GARD:0010394"}

[Term]
id: MONDO:0011631
name: hemochromatosis type 4
def: "A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC." [Orphanet:647834]
subset: gard_rare {source="GARD:10094", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1137"}
subset: ordo_disorder {source="Orphanet:647834", source="Orphanet:648562"}
subset: orphanet_rare {source="Orphanet:647834", source="Orphanet:648562"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant hereditary hemochromatosis" EXACT [DOID:0111028]
synonym: "Ferroportin Disease" EXACT [NORD:1137]
synonym: "ferroportin disease" EXACT [DOID:0111028, Orphanet:648562]
synonym: "hemochromatosis due to defect in ferroportin" EXACT [DOID:0111028, OMIM:606069]
synonym: "hemochromatosis, autosomal dominant" RELATED [OMIM:606069]
synonym: "hemochromatosis, type 4" RELATED [MONDO:Lexical, OMIM:606069]
synonym: "hereditary hemochromatosis caused by mutation in SLC40A1" EXACT [MONDO:design_pattern]
synonym: "HFE4" EXACT ABBREVIATION [DOID:0111028, MONDO:Lexical, OMIM:606069]
synonym: "SLC40A1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111028 {source="MONDO:equivalentTo"}
xref: GARD:10094 {source="MONDO:GARD"}
xref: ICD10CM:E83.1 {source="DOID:0111028", source="Orphanet:139491", source="Orphanet:139491/attributed", source="Orphanet:139491/ntbt"}
xref: MEDGEN:340044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537249 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="Orphanet:139491/e"}
xref: NORD:1137 {source="MONDO:NORD"}
xref: OMIM:606069 {source="DOID:0111028", source="MONDO:equivalentTo", source="Orphanet:139491", source="Orphanet:139491/e"}
xref: Orphanet:139491 {source="DOID:0111028", source="MONDO:equivalentObsolete", source="OMIM:606069"}
xref: Orphanet:647834 {source="MONDO:equivalentTo"}
xref: Orphanet:648562 {source="MONDO:equivalentTo"}
xref: SCTID:719975002 {source="MONDO:equivalentTo"}
xref: UMLS:C1853733 {source="MONDO:equivalentTo", source="MEDGEN:340044", source="MONDO:MEDGEN"}
is_a: MONDO:0006507 {source="DOID:0111028", source="MESH:C537249", source="MONDO:Redundant", source="OMIM:606069", source="Orphanet:139491"} ! hereditary hemochromatosis
intersection_of: MONDO:0006507 ! hereditary hemochromatosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10909 ! SLC40A1
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10909 {source="MONDO:mim2gene_medgen"} ! SLC40A1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4" xsd:anyURI {source="GARD:0010094"}

[Term]
id: MONDO:0011632
name: amyotrophic lateral sclerosis type 21
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS21" EXACT ABBREVIATION [DOID:0060212, MONDO:Lexical, OMIM:606070]
synonym: "amyotrophic lateral sclerosis 21" RELATED [MONDO:Lexical, OMIM:606070]
synonym: "amyotrophic lateral sclerosis caused by mutation in MATR3" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 21" EXACT CLINGEN_LABEL [MONDORULE:2, OMIM:606070]
synonym: "MATR3 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myopathy, distal, 2" RELATED [OMIM:606070]
synonym: "myopathy, distal, 2, formerly" RELATED [OMIM:606070]
synonym: "vocal cord and pharyngeal dysfunction with distal myopathy" RELATED [OMIM:606070]
synonym: "vocal cord and pharyngeal dysfunction with distal myopathy, formerly" RELATED [OMIM:606070]
xref: DOID:0060212 {source="MONDO:equivalentTo"}
xref: GARD:18619 {source="MONDO:GARD"}
xref: MEDGEN:813851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168755 {source="MONDO:equivalentTo"}
xref: OMIM:606070 {source="DOID:0060212", source="MONDO:equivalentTo"}
xref: Orphanet:600 {source="MONDO:relatedTo", source="OMIM:606070"}
xref: Orphanet:803 {source="OMIM:606070"}
xref: UMLS:C3807521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813851"}
is_a: MONDO:0005144 {source="DC-OMIM:606070", source="DOID:0060212", source="MONDO:Redundant", source="OMIM:606070"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6912 ! MATR3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6912 {source="MONDO:mim2gene_medgen"} ! MATR3

[Term]
id: MONDO:0011633
name: Charcot-Marie-Tooth disease axonal type 2C
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." [Orphanet:99937]
subset: gard_rare {source="GARD:1250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99937"}
subset: orphanet_rare {source="Orphanet:99937"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182]
synonym: "Charcot Marie Tooth disease type 2C" RELATED [GARD:0001250]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2C" RELATED [GARD:0001250]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C" RELATED [OMIM:606071]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2C" RELATED [GARD:0001250]
synonym: "Charcot-Marie-Tooth neuropathy type 2C" EXACT [DOID:0110182]
synonym: "Charcot-Marie-Tooth neuropathy, type 2C" RELATED [OMIM:606071]
synonym: "CMT 2C" RELATED [GARD:0001250]
synonym: "CMT2C" EXACT ABBREVIATION [DOID:0110182, Orphanet:99937]
synonym: "hereditary motor and sensory neuropathy 2 C" RELATED [GARD:0001250]
synonym: "hereditary motor and sensory neuropathy type IIc" EXACT [DOID:0110182]
synonym: "hereditary motor and sensory neuropathy, type 2C" RELATED [OMIM:606071]
synonym: "hereditary motor and sensory neuropathy, type IIC" RELATED [MONDO:Lexical, OMIM:606071]
synonym: "HMSN 2 C" RELATED [GARD:0001250]
synonym: "HMSN 2C" RELATED [OMIM:606071]
synonym: "HMSN2C" EXACT ABBREVIATION [DOID:0110182, MONDO:Lexical, OMIM:606071]
synonym: "TRPV4 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110182 {source="MONDO:equivalentTo"}
xref: GARD:1250 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110182", source="Orphanet:99937", source="Orphanet:99937/attributed", source="Orphanet:99937/ntbt"}
xref: MEDGEN:342947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606071 {source="MONDO:equivalentTo", source="DOID:0110182", source="Orphanet:99937", source="GARD:0001250", source="Orphanet:99937/e"}
xref: Orphanet:99937 {source="OMIM:606071", source="MONDO:equivalentTo", source="DOID:0110182"}
xref: SCTID:717010007 {source="MONDO:equivalentTo"}
xref: UMLS:C1853710 {source="MEDGEN:342947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002316 {source="DC-OMIM:606071"} ! motor peripheral neuropathy
is_a: MONDO:0015626 {source="DOID:0110182/inferred", source="MONDO:Redundant", source="OMIM:606071", source="Orphanet:99937/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110182", source="MONDO:Redundant", source="Orphanet:99937"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 ! TRPV4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c" xsd:anyURI {source="GARD:0001250"}

[Term]
id: MONDO:0011634
name: rippling muscle disease
def: "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch" [doi:10.1002/mus.10156, https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: ICD10CM:G71.8 {source="Orphanet:97238/attributed", source="Orphanet:97238/ntbt", source="Orphanet:97238"}
xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069417 {source="Orphanet:97238", source="Orphanet:97238/e"}
xref: MEDGEN:342944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535685 {source="Orphanet:97238", source="Orphanet:97238/e"}
xref: SCTID:709281006 {source="MONDO:equivalentTo"}
xref: UMLS:C1853698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342944"}
is_a: MONDO:0005336 ! myopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease" xsd:anyURI {source="GARD:0009164"}

[Term]
id: MONDO:0011635
name: goiter, multinodular 3
synonym: "goiter, multinodular 3" EXACT [MONDO:Lexical, OMIM:606082]
synonym: "goiter, multinodular, 3" EXACT [OMIM:606082, OMIM:genemap2]
synonym: "MNG3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606082]
xref: MEDGEN:342940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565260 {source="MONDO:equivalentTo"}
xref: OMIM:606082 {source="MONDO:equivalentTo"}
xref: UMLS:C1853686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342940"}
is_a: MONDO:0000334 {source="DC-OMIM:606082", source="MONDO:Redundant", source="OMIM:606082"} ! multinodular goiter
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011636
name: Diamond-Blackfan anemia 2
subset: gard_rare {source="GARD:8283", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anaemia Diamond-Blackfan 2" RELATED OMO:0003005 []
synonym: "anemia Diamond-Blackfan 2" RELATED [GARD:0008283]
synonym: "DBA2" RELATED ABBREVIATION [GARD:0008283, MESH:C536130, MONDO:Lexical, OMIM:606129]
synonym: "Diamond-Blackfan anemia 2" EXACT [MESH:C536130, MONDO:Lexical, OMIM:606129]
synonym: "Diamond-Blackfan Anemia, 2" RELATED [MESH:C536130]
xref: DOID:0111885 {source="MONDO:equivalentTo"}
xref: GARD:8283 {source="MONDO:GARD"}
xref: MEDGEN:344104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536130 {source="MONDO:equivalentTo"}
xref: OMIM:606129 {source="MONDO:equivalentTo", source="GARD:0008283"}
xref: UMLS:C1853666 {source="MEDGEN:344104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015253 {source="DC-OMIM:606129", source="MESH:C536130", source="OMIM:606129"} ! Diamond-Blackfan anemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2" xsd:anyURI {source="GARD:0008283"}

[Term]
id: MONDO:0011637
name: Sener syndrome
synonym: "frontonasal dysplasia and dilated Virchow-Robin spaces" RELATED [OMIM:606156]
synonym: "polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia" RELATED [GARD:0008451]
synonym: "Sener syndrome" EXACT [OMIM:606156]
xref: MEDGEN:342924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537579 {source="MONDO:equivalentTo"}
xref: OMIM:606156 {source="MONDO:equivalentTo"}
xref: UMLS:C1853616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342924"}
is_a: MONDO:0003847 {source="MESH:C537579/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8451/sener-syndrome" xsd:anyURI {source="GARD:0008451"}

[Term]
id: MONDO:0011638
name: neuroferritinopathy
def: "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits." [Orphanet:157846]
comment: Editor note: consider relation to basal ganglia
subset: gard_rare {source="GARD:10686", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157846"}
subset: orphanet_rare {source="Orphanet:157846"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult basal ganglia disease" EXACT [DOID:0110737, Orphanet:157846]
synonym: "basal ganglia disease adult-onset" RELATED [GARD:0010686]
synonym: "basal ganglia disease, adult-onset" RELATED [OMIM:606159]
synonym: "ferritin-related neurodegeneration" EXACT [DOID:0110737, Orphanet:157846]
synonym: "hereditary ferritinopathy" EXACT [DOID:0110737, Orphanet:157846]
synonym: "NBIA3" EXACT ABBREVIATION [DOID:0110737, MONDO:Lexical, OMIM:606159]
synonym: "neurodegeneration with brain iron accumulation 3" RELATED [MONDO:Lexical, OMIM:606159]
synonym: "neurodegeneration with brain iron accumulation type 3" EXACT [DOID:0110737, MONDORULE:1, OMIM:606159]
synonym: "neuroferritinopathy" EXACT [DOID:0110737, OMIM:606159]
synonym: "Neuroferritinopathy; basal ganglia disease, adult-onset" EXACT [DOID:0110737]
xref: DOID:0110737 {source="MONDO:equivalentTo"}
xref: GARD:10686 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/attributed", source="Orphanet:157846/ntbt"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:381211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548080 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/e"}
xref: NANDO:1200539 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200542 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:606159 {source="MONDO:equivalentTo", source="DOID:0110737", source="Orphanet:157846", source="Orphanet:157846/e"}
xref: Orphanet:157846 {source="OMIM:606159", source="MONDO:equivalentTo", source="DOID:0110737"}
xref: SCTID:699299001 {source="MONDO:equivalentTo"}
xref: UMLS:C1853578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381211"}
is_a: MONDO:0015548 {source="Orphanet:157846"} ! Huntington disease-like syndrome
is_a: MONDO:0017763 {source="Orphanet:157846"} ! disorder of iron metabolism and transport
is_a: MONDO:0018307 {source="DC-OMIM:606159", source="DOID:0110737", source="OMIM:606159", source="Orphanet:157846"} ! neurodegeneration with brain iron accumulation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3999 {source="MONDO:mim2gene_medgen"} ! FTL

[Term]
id: MONDO:0011639
name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series 105650. {source="OMIM:606164"}
subset: gard_rare {source="GARD:15390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606164]
synonym: "Diamond Blackfan anaemia 15 with mandibulofacial dysostosis" EXACT OMO:0003005 []
synonym: "Diamond Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [OMIM:606164, OMIM:genemap2]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPS28" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:606164]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS28" EXACT [MONDO:design_pattern]
synonym: "RPS28 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPS28 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111894 {source="MONDO:equivalentTo"}
xref: GARD:15390 {source="MONDO:GARD"}
xref: MEDGEN:902755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606164 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:606164"}
xref: UMLS:C4225411 {source="MEDGEN:902755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="MONDO:Redundant", source="OMIM:606164"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10418 ! RPS28
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10418 {source="MONDO:mim2gene_medgen"} ! RPS28
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011640
name: genitopatellar syndrome
def: "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." [Orphanet:85201]
subset: gard_rare {source="GARD:10994", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85201"}
subset: ordo_malformation_syndrome {source="Orphanet:85201"}
subset: orphanet_rare {source="Orphanet:85201"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability" RELATED [OMIM:606170]
synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" RELATED DEPRECATED [OMIM:606170]
synonym: "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome" EXACT [Orphanet:85201]
synonym: "GENITOPATELLAR syndrome" RELATED [OMIM:606170]
synonym: "genitopatellar syndrome" EXACT [MONDO:Lexical, OMIM:606170]
synonym: "GTPTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606170]
xref: GARD:10994 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85201/attributed", source="Orphanet:85201/ntbt", source="Orphanet:85201"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:381208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565255 {source="MONDO:equivalentTo"}
xref: OMIM:606170 {source="Orphanet:85201", source="MONDO:equivalentTo", source="Orphanet:85201/e"}
xref: Orphanet:85201 {source="OMIM:606170", source="MONDO:equivalentTo"}
xref: SCTID:702367005 {source="MONDO:equivalentTo"}
xref: UMLS:C1853566 {source="MEDGEN:381208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:85201"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:85201", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17582 {source="MONDO:mim2gene_medgen"} ! KAT6B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome" xsd:anyURI {source="GARD:0010994"}

[Term]
id: MONDO:0011641
name: baculum, congenital absence of
synonym: "baculum, congenital absence of" EXACT [OMIM:606174]
synonym: "Os penis, congenital absence of" RELATED [OMIM:606174]
xref: MEDGEN:344078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606174 {source="MONDO:equivalentTo"}
xref: UMLS:C1853565 {source="MEDGEN:344078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011642
name: carnitine acetyltransferase deficiency
def: "A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state." [https://orcid.org/0000-0002-6601-2165, PMID:28955988]
synonym: "Acetyl-carnitine deficiency" RELATED [GTR:AN0098794]
synonym: "acetyl-carnitine deficiency" RELATED [GARD:0008602]
synonym: "carnitine acetyltransferase deficiency" EXACT [GARD:0008602, OMIM:606175]
synonym: "CrAT" RELATED [GTR:AN0098795, PMID:22560225, PMID:28955988]
xref: GTR:AN0098794
xref: GTR:AN0098795
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:257042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563249 {source="MONDO:equivalentTo"}
xref: OMIM:606175 {source="MONDO:equivalentTo"}
xref: SCTID:124257002 {source="MONDO:equivalentTo"}
xref: UMLS:C1443228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:257042"}
is_a: MONDO:0003847 {source="MESH:C563249/inferred"} ! hereditary disease
relationship: disease_has_basis_in_disruption_of GO:0004092 ! carnitine O-acetyltransferase activity
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8602/acetyl-carnitine-deficiency" xsd:anyURI {source="GARD:0008602"}

[Term]
id: MONDO:0011643
name: obsolete permanent neonatal diabetes mellitus
comment: OMIM created a new phenotypic series (PS), so this class was obsoleted and replaced by a new class for 'permanent neonatal diabetes mellitus' (MONDO:0100164) that is equivalent to the OMIMPS.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1803" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100164

[Term]
id: MONDO:0011644
name: pars planitis
def: "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." [NCIT:P378]
subset: gard_rare {source="GARD:7339", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial pars planitis (subtype)" RELATED [GARD:0007339]
synonym: "inflammation of pars plana of ciliary body" EXACT []
synonym: "pars plana of ciliary body inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pars plana of ciliary bodyitis" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pars planitis" EXACT [OMIM:606177]
synonym: "peripheral retinal inflammation" RELATED [GARD:0007339]
synonym: "posterior cyclitis" EXACT [DOID:12731]
xref: DOID:12731 {source="EFO:1001088", source="MONDO:equivalentTo"}
xref: EFO:1001088 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7339 {source="MONDO:GARD"}
xref: ICD10CM:H30.2 {source="DOID:12731"}
xref: ICD9:363.21 {source="DOID:12731"}
xref: MedDRA:10034052 {source="EFO:1001088"}
xref: MEDGEN:14623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015868 {source="EFO:1001088", source="MONDO:equivalentTo", source="DOID:12731"}
xref: NCIT:C34903 {source="EFO:1001088", source="MONDO:equivalentTo", source="DOID:12731"}
xref: OMIM:606177 {source="EFO:1001088", source="MONDO:equivalentTo", source="DOID:12731"}
xref: SCTID:193452008 {source="DOID:12731"}
xref: SCTID:314428001 {source="MONDO:equivalentTo", source="DOID:12731"}
xref: SCTID:45688009 {source="EFO:1001088", source="DOID:12731"}
xref: UMLS:C0030593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14623"}
is_a: MONDO:0004674 {source="DOID:12731"} ! chorioretinitis
is_a: MONDO:0006806 {source="DOID:12731", source="EFO:1001088", source="MESH:D015868"} ! intermediate uveitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0034936 ! pars plana of ciliary body

[Term]
id: MONDO:0011645
name: obsolete aneurysmal bone cysts
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2868" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018815

[Term]
id: MONDO:0011646
name: laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy
synonym: "laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy" EXACT [OMIM:606183]
xref: MEDGEN:381205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565252 {source="MONDO:equivalentTo"}
xref: OMIM:606183 {source="MONDO:equivalentTo"}
xref: UMLS:C1853556 {source="MEDGEN:381205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011647
name: Alzheimer disease 7
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." [DOID:0110039, PMID:11443525]
subset: gard_rare {source="GARD:16510", source="MONDO:GARD"}
subset: rare
synonym: "AD7" EXACT ABBREVIATION [DOID:0110039]
synonym: "Ad7" RELATED [OMIM:606187]
synonym: "Alzheimer disease 7" EXACT [DOID:0110039, OMIM:606187]
synonym: "Alzheimer disease type 7" EXACT [MONDORULE:1, OMIM:606187]
synonym: "Alzheimer disease, familial 7" EXACT [DOID:0110039]
synonym: "Alzheimer disease, familial, 7" RELATED [OMIM:606187]
synonym: "Alzheimer disease-7" EXACT [OMIM:606187, OMIM:genemap2]
synonym: "Alzheimer's disease 7" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 7" EXACT [DOID:0110039, MONDORULE:1]
xref: DOID:0110039 {source="MONDO:equivalentTo"}
xref: GARD:16510 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110039"}
xref: MEDGEN:342907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565251 {source="MONDO:equivalentTo"}
xref: OMIM:606187 {source="DOID:0110039", source="MONDO:equivalentTo"}
xref: Orphanet:1020 {source="OMIM:606187"}
xref: UMLS:C1853555 {source="MEDGEN:342907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011648
name: radiation-induced meningioma
subset: gard_rare {source="GARD:8491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "meningioma, radiation-induced" RELATED [OMIM:606190]
synonym: "Mnri" RELATED [OMIM:606190]
synonym: "radiation induced meningioma" RELATED [GARD:0008491]
xref: GARD:8491 {source="MONDO:GARD"}
xref: MEDGEN:381204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536266 {source="MONDO:equivalentTo"}
xref: OMIM:606190 {source="MONDO:equivalentTo"}
xref: Orphanet:2495 {source="OMIM:606190"}
xref: UMLS:C1853554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381204"}
is_a: MONDO:0016642 {source="MESH:C536266", source="MONDO:Redundant", source="Orphanet:2495/btnt"} ! meningioma
intersection_of: MONDO:0016642 ! meningioma
intersection_of: realized_in_response_to ENVO:01001026 ! electromagnetic radiation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8491/radiation-induced-meningioma" xsd:anyURI {source="GARD:0008491"}

[Term]
id: MONDO:0011649
name: obsolete AVSD 1
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5758" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800268

[Term]
id: MONDO:0011650
name: atrioventricular septal defect, susceptibility to, 2
def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "atrioventricular septal defect caused by mutation in CRELD1" EXACT [MONDO:design_pattern]
synonym: "atrioventricular septal defect, partial, with heterotaxy syndrome" RELATED [OMIM:606217]
synonym: "atrioventricular septal defect, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:606217]
synonym: "atrioventricular septal defect, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606217]
synonym: "AVSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606217]
synonym: "CRELD1 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to atrioventricular septal defect 2" RELATED [OMIM:606217]
xref: MEDGEN:381193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565249 {source="MONDO:equivalentTo"}
xref: OMIM:606217 {source="MONDO:equivalentTo"}
xref: Orphanet:98722 {source="OMIM:606217"}
xref: UMLS:C1853508 {source="MEDGEN:381193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14630 ! CRELD1
intersection_of: predisposes_towards MONDO:0020290 ! familial atrioventricular septal defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14630 {source="MONDO:mim2gene_medgen"} ! CRELD1

[Term]
id: MONDO:0011651
name: intellectual disability, short stature, facial anomalies, and joint dislocations
synonym: "intellectual developmental disorder with short stature, facial anomalies, and speech defects" EXACT [OMIM:606220, OMIM:genemap2]
synonym: "intellectual disability, short stature, facial anomalies, and JOINT dislocations" RELATED [OMIM:606220]
synonym: "mental retardation, short stature, facial anomalies, and JOINT dislocations" RELATED DEPRECATED [OMIM:606220]
xref: MEDGEN:342897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565248 {source="MONDO:equivalentTo"}
xref: OMIM:606220 {source="MONDO:equivalentTo"}
xref: UMLS:C1853507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342897"}
is_a: MONDO:0003847 {source="MESH:C565248/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011652
name: Phelan-McDermid syndrome
def: "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." [Orphanet:48652]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10130", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1573"}
subset: ordo_disorder {source="Orphanet:48652"}
subset: ordo_malformation_syndrome {source="Orphanet:48652"}
subset: orphanet_rare {source="Orphanet:48652"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "22q13 deletion" EXACT [Orphanet:48652]
synonym: "22q13.3 deletion syndrome" RELATED [GARD:0010130]
synonym: "chromosome 22Q13.3 deletion syndrome" RELATED [OMIM:606232]
synonym: "deletion 22q13.3 syndrome" RELATED [GARD:0010130]
synonym: "monosomy 22q13" EXACT []
synonym: "monosomy type 22q13" EXACT [MONDORULE:7, Orphanet:48652]
synonym: "Phelan McDermid syndrome" EXACT [PMID:28346892]
synonym: "PHELAN-McDermid syndrome" RELATED [MONDO:Lexical, OMIM:606232]
synonym: "Phelan-McDermid syndrome" EXACT CLINGEN_LABEL [Orphanet:48652]
synonym: "PHMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606232]
synonym: "telomeric 22Q13 monosomy syndrome" RELATED [OMIM:606232]
xref: DECIPHER:20 {source="MONDO:equivalentTo"}
xref: DOID:0080354 {source="MONDO:equivalentTo"}
xref: GARD:10130 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:48652", source="Orphanet:48652/attributed", source="Orphanet:48652/ntbt"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:339994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536801 {source="MONDO:equivalentTo"}
xref: NCIT:C157124 {source="MONDO:equivalentTo"}
xref: NORD:1573 {source="MONDO:NORD"}
xref: OMIM:606232 {source="Orphanet:48652/e", source="MONDO:equivalentTo", source="Orphanet:48652"}
xref: Orphanet:48652 {source="MONDO:equivalentTo", source="OMIM:606232"}
xref: SCTID:699310000 {source="MONDO:equivalentTo"}
xref: UMLS:C1853490 {source="MEDGEN:339994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0022760 {source="Orphanet:48652"} ! chromosome 22q deletion
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14294 {source="MONDO:mim2gene_medgen"} ! SHANK3

[Term]
id: MONDO:0011653
name: thyroid cancer, nonmedullary, 3
subset: gard_rare {source="GARD:15391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NMTC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606240]
synonym: "thyroid cancer, nonmedullary, 1" RELATED [OMIM:606240]
synonym: "thyroid cancer, nonmedullary, 1, formerly" RELATED [OMIM:606240]
synonym: "thyroid cancer, nonmedullary, 3" EXACT [MONDO:Lexical, OMIM:606240]
synonym: "thyroid carcinoma, nonmedullary, 3" EXACT [OMIM:606240, OMIM:genemap2]
xref: GARD:15391 {source="MONDO:GARD"}
xref: MEDGEN:903332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606240 {source="MONDO:equivalentTo"}
xref: Orphanet:319487 {source="OMIM:606240"}
xref: UMLS:C4225410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903332"}
is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
is_a: MONDO:0017896 {source="OMIM:606240"} ! familial nonmedullary thyroid carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011654
name: intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism
synonym: "intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism" RELATED [OMIM:606242]
synonym: "Kondoh syndrome" RELATED [OMIM:606242]
synonym: "mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism" RELATED DEPRECATED [OMIM:606242]
xref: MEDGEN:342889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565246 {source="MONDO:equivalentTo"}
xref: OMIM:606242 {source="MONDO:equivalentTo"}
xref: UMLS:C1853480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342889"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011655
name: alveolar soft part sarcoma
def: "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." [NCIT:C7943]
subset: gard_rare {source="GARD:5654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:760"}
subset: ordo_disorder {source="Orphanet:163699"}
subset: orphanet_rare {source="Orphanet:163699"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult alveolar soft Part sarcoma" EXACT [NCIT:C7943]
synonym: "adult alveolar soft part sarcoma" EXACT [DOID:4239]
synonym: "adult alveolar soft-Part sarcoma" EXACT [NCIT:C7943]
synonym: "alveolar soft PART sarcoma" RELATED [MONDO:Lexical, OMIM:606243]
synonym: "alveolar soft Part sarcoma" EXACT [DOID:4239, NCIT:C3750, NCIT:C7943]
synonym: "alveolar soft part sarcoma" EXACT [MONDO:ambiguous, NCIT:C3750]
synonym: "alveolar soft part sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "alveolar soft tissue sarcoma" RELATED [Orphanet:163699]
synonym: "alveolar soft-part sarcoma" EXACT [Orphanet:163699]
synonym: "alveolar soft-tissue sarcoma" RELATED [Orphanet:163699]
synonym: "ASPS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3750, OMIM:606243, Orphanet:163699]
synonym: "childhood alveolar soft part sarcoma" NARROW [DOID:4239]
synonym: "paediatric alveolar soft Part sarcoma" NARROW OMO:0003005 []
synonym: "pediatric alveolar soft Part sarcoma" NARROW [DOID:4239, NCIT:C8092]
xref: DOID:4239 {source="MONDO:equivalentTo", source="EFO:0007143"}
xref: EFO:0007143 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5654 {source="MONDO:GARD"}
xref: HP:0012218 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C49.9 {source="Orphanet:163699/ntbt", source="Orphanet:163699"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9581/3 {source="NCIT:C3750"}
xref: MedDRA:10001882 {source="Orphanet:163699/e", source="Orphanet:163699"}
xref: MEDGEN:61652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018234 {source="Orphanet:163699/e", source="DOID:4239", source="MONDO:equivalentTo", source="Orphanet:163699", source="EFO:0007143"}
xref: NANDO:2200063 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3750 {source="DOID:4239", source="MONDO:equivalentTo"}
xref: NCIT:C7943 {source="DOID:4239", source="MONDO:equivalentTo"}
xref: NCIT:C8092 {source="DOID:4239"}
xref: NORD:760 {source="MONDO:NORD"}
xref: OMIM:606243 {source="Orphanet:163699/e", source="DOID:4239", source="MONDO:equivalentTo", source="Orphanet:163699"}
xref: ONCOTREE:ASPS {source="MONDO:equivalentTo"}
xref: Orphanet:163699 {source="MONDO:equivalentTo", source="OMIM:606243"}
xref: SCTID:302839003 {source="DOID:4239"}
xref: SCTID:404056007 {source="DOID:4239", source="MONDO:equivalentTo"}
xref: SCTID:88195001 {source="DOID:4239"}
xref: UMLS:C0206657 {source="MEDGEN:61652", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005089 {source="DC-OMIM:606243", source="EFO:0007143", source="MESH:D018234", source="MONDO:Redundant", source="NCIT:C3750/inferred", source="NCIT:C7943/inferred"} ! sarcoma
is_a: MONDO:0018078 {source="NCIT:C3750", source="NCIT:C7943/inferred", source="Orphanet:163699"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0002847 {source="DOID:4239", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal muscle cancer
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13825 {source="MONDO:mim2gene_medgen"} ! ASPSCR1
property_value: IAO:0000589 "alveolar soft part sarcoma (disease)" xsd:string

[Term]
id: MONDO:0011656
name: paget disease of bone 4
synonym: "Paget disease of bone 4" RELATED [MONDO:Lexical, OMIM:606263]
synonym: "PDB4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606263]
xref: DOID:0081367 {source="MONDO:equivalentTo"}
xref: MEDGEN:339991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565240 {source="MONDO:equivalentTo"}
xref: OMIM:606263 {source="MONDO:equivalentTo"}
xref: Orphanet:280110 {source="OMIM:606263"}
xref: UMLS:C1853473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339991"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005382 {source="DC-OMIM:606263", source="OMIM:606263"} ! bone Paget disease

[Term]
id: MONDO:0011657
name: autosomal dominant nonsyndromic hearing loss 24
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter." [DOID:0110554, PMID:10739769]
subset: gard_rare {source="GARD:9166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 24" NARROW [DOID:0110554]
synonym: "autosomal dominant nonsyndromic deafness 24" NARROW [OMIM:606282]
synonym: "autosomal dominant nonsyndromic deafness type 24" NARROW [DOID:0110554, MONDORULE:2]
synonym: "deafness, autosomal dominant 24" NARROW [MONDO:Lexical, OMIM:606282, OMIM:genemap2]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 24" NARROW [GARD:0009166]
synonym: "DFNA 24" NARROW [GARD:0009166]
synonym: "DFNA24" NARROW ABBREVIATION [DOID:0110554, MONDO:Lexical, OMIM:606282]
xref: DOID:0110554 {source="MONDO:equivalentTo"}
xref: GARD:9166 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110554"}
xref: MEDGEN:377905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565239 {source="MONDO:equivalentTo"}
xref: OMIM:606282 {source="MONDO:equivalentTo", source="DOID:0110554"}
xref: UMLS:C1853451 {source="MEDGEN:377905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:606282", source="DOID:0110554", source="OMIM:606282"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011658
name: autosomal recessive early-onset Parkinson disease 7
def: "Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18606", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive early-onset Parkinson disease 7" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive early-onset Parkinson disease type 7" EXACT [DOID:0060370, MONDORULE:1]
synonym: "autosomal recessive early-onset Parkinson's disease 7" RELATED [DOID:0060370]
synonym: "PARK7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606324]
synonym: "PARK7 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Parkinson disease 7, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:606324]
synonym: "Parkinson disease caused by mutation in PARK7" EXACT [MONDO:design_pattern]
xref: DOID:0060370 {source="MONDO:equivalentTo"}
xref: GARD:18606 {source="MONDO:GARD"}
xref: MEDGEN:344049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565238 {source="MONDO:equivalentTo"}
xref: OMIM:606324 {source="MONDO:equivalentTo", source="DOID:0060370"}
xref: Orphanet:2828 {source="OMIM:606324"}
xref: UMLS:C1853445 {source="MEDGEN:344049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DOID:0060370/inferred", source="MESH:C565238", source="MONDO:Redundant", source="OMIM:606324"} ! Parkinson disease
is_a: MONDO:0017279 {source="DOID:0060370"} ! young-onset Parkinson disease
intersection_of: MONDO:0005180 ! Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16369 ! PARK7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16369 {source="MONDO:mim2gene_medgen"} ! PARK7

[Term]
id: MONDO:0011659
name: heterotaxy, visceral, 3, autosomal
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "heterotaxy, visceral, 3, autosomal" EXACT [MONDO:Lexical, OMIM:606325]
synonym: "HTX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606325]
xref: MEDGEN:339983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565237 {source="MONDO:equivalentTo"}
xref: OMIM:606325 {source="MONDO:equivalentTo"}
xref: Orphanet:450 {source="OMIM:606325"}
xref: UMLS:C1853444 {source="MEDGEN:339983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018677 {source="DC-OMIM:606325", source="OMIM:606325"} ! visceral heterotaxy

[Term]
id: MONDO:0011660
name: autosomal dominant nonsyndromic hearing loss 22
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 22" NARROW [DOID:0110552]
synonym: "autosomal dominant nonsyndromic deafness 22" NARROW [OMIM:606346]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO6" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 22" NARROW [DOID:0110552, MONDORULE:2]
synonym: "deafness, autosomal dominant 22" NARROW [MONDO:Lexical, OMIM:606346, OMIM:genemap2]
synonym: "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" NARROW [OMIM:606346, OMIM:genemap2]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 22" NARROW [GARD:0009167]
synonym: "deafness, autosomal dominant type 22" NARROW [MONDORULE:2, OMIM:606346]
synonym: "DFNA 22" RELATED [GARD:0009167]
synonym: "DFNA22" NARROW ABBREVIATION [DOID:0110552, MONDO:Lexical, OMIM:606346]
synonym: "MYO6 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110552 {source="MONDO:equivalentTo"}
xref: GARD:9167 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110552"}
xref: MEDGEN:419894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538197 {source="MONDO:equivalentTo"}
xref: OMIM:606346 {source="MONDO:equivalentTo", source="DOID:0110552"}
xref: Orphanet:228012 {source="OMIM:606346", source="MONDO:relatedTo"}
xref: Orphanet:90635 {source="OMIM:606346"}
xref: UMLS:C2931767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419894"}
is_a: MONDO:0019587 {source="DC-OMIM:606346", source="DOID:0110552", source="MONDO:Redundant", source="OMIM:606346"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7605 ! MYO6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7605 {source="MONDO:mim2gene_medgen"} ! MYO6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011661
name: inflammatory bowel disease 5
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31." [DOID:0110889, PMID:11586304]
subset: otar {source="MONDO:OTAR"}
synonym: "IBD5" EXACT ABBREVIATION [DOID:0110889, MONDO:Lexical, OMIM:606348]
synonym: "inflammatory bowel disease 5" EXACT [MONDO:Lexical, OMIM:606348]
synonym: "inflammatory bowel disease type 5" EXACT [DOID:0110889, MONDORULE:1]
xref: DOID:0110889 {source="MONDO:equivalentTo"}
xref: MEDGEN:342879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565234 {source="MONDO:equivalentTo"}
xref: OMIM:606348 {source="DOID:0110889", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:606348"}
xref: Orphanet:771 {source="OMIM:606348"}
xref: UMLS:C1853438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342879"}
is_a: MONDO:0005265 {source="DC-OMIM:606348", source="DOID:0110889", source="MESH:C565234", source="OMIM:606348"} ! inflammatory bowel disease

[Term]
id: MONDO:0011662
name: pathological gambling
def: "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "compulsive gambling" EXACT [DOID:12399]
synonym: "gambling, pathologic" RELATED [OMIM:606349]
synonym: "pathological gambling" EXACT [DOID:12399]
xref: DOID:12399 {source="MONDO:equivalentTo"}
xref: EFO:1001926 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F63.0 {source="MONDO:equivalentTo", source="DOID:12399"}
xref: ICD9:312.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12399"}
xref: MEDGEN:14632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005715 {source="MONDO:equivalentTo", source="DOID:12399"}
xref: NCIT:C94335 {source="MONDO:equivalentTo", source="DOID:12399"}
xref: OMIM:606349 {source="MONDO:equivalentTo", source="DOID:12399"}
xref: SCTID:18085000 {source="MONDO:equivalentTo", source="DOID:12399"}
xref: SCTID:192501004 {source="DOID:12399"}
xref: SCTID:284524008 {source="DOID:12399"}
xref: UMLS:C0030662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14632"}
is_a: MONDO:0001162 {source="DOID:12399", source="NCIT:C94335"} ! impulse control disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011663
name: juvenile primary lateral sclerosis
def: "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." [Orphanet:247604]
subset: gard_rare {source="GARD:4485", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247604"}
subset: orphanet_rare {source="Orphanet:247604"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JPLS" EXACT ABBREVIATION [Orphanet:247604]
synonym: "juvenile PLS" EXACT [Orphanet:247604]
synonym: "PLS juvenile" RELATED [GARD:0004485]
synonym: "Pls, juvenile" RELATED [OMIM:606353]
synonym: "PLSJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606353]
synonym: "primary lateral sclerosis, juvenile" RELATED [GARD:0004485, MONDO:Lexical, OMIM:606353]
xref: GARD:4485 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:247604", source="Orphanet:247604/attributed", source="Orphanet:247604/ntbt"}
xref: MEDGEN:342870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536416 {source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e"}
xref: OMIM:606353 {source="MONDO:equivalentTo", source="Orphanet:247604", source="Orphanet:247604/e"}
xref: Orphanet:247604 {source="MONDO:equivalentTo", source="OMIM:606353"}
xref: SCTID:717964007 {source="MONDO:equivalentTo"}
xref: UMLS:C1853396 {source="MEDGEN:342870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018155 {source="DC-OMIM:606353"} ! lateral sclerosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 {source="MONDO:mim2gene_medgen"} ! ALS2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis" xsd:anyURI {source="GARD:0004485"}

[Term]
id: MONDO:0011664
name: immunodeficiency due to CD25 deficiency
subset: gard_rare {source="GARD:17049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169100"}
subset: orphanet_rare {source="Orphanet:169100"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD25 deficiency" RELATED [OMIM:606367]
synonym: "IL2RA deficiency" RELATED [OMIM:606367]
synonym: "IMD41" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606367]
synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity" RELATED [MONDO:Lexical, OMIM:606367]
synonym: "immunodeficiency due to CD25 deficiency" EXACT CLINGEN_LABEL []
synonym: "Interleukin 2 receptor, alpha, deficiency of" RELATED [OMIM:606367]
synonym: "Interleukin-2 receptor alpha chain deficiency" EXACT [Orphanet:169100]
xref: DOID:0111968 {source="MONDO:equivalentTo"}
xref: GARD:17049 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:169100/attributed", source="Orphanet:169100/ntbt", source="Orphanet:169100"}
xref: MEDGEN:377894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565232 {source="MONDO:equivalentTo"}
xref: NANDO:2200736 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:606367 {source="Orphanet:169100/e", source="MONDO:equivalentTo", source="Orphanet:169100"}
xref: Orphanet:169100 {source="MONDO:equivalentTo", source="OMIM:606367"}
xref: UMLS:C1853392 {source="MEDGEN:377894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6008 {source="MONDO:mim2gene_medgen"} ! IL2RA

[Term]
id: MONDO:0011665
name: obsolete Lennox-Gastaut syndrome
is_obsolete: true
replaced_by: MONDO:0016532

[Term]
id: MONDO:0011666
name: obsolete maturity-onset diabetes of the young
is_obsolete: true
replaced_by: MONDO:0018911

[Term]
id: MONDO:0011667
name: maturity-onset diabetes of the young type 4
def: "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes." [NCIT:C129746]
subset: gard_rare {source="GARD:10659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes mellitus MODY type 4" RELATED [GARD:0010659]
synonym: "maturity onset diabetes of the Young, type 4" EXACT [NCIT:C129746]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PDX1" EXACT []
synonym: "maturity-onset diabetes of the young, type 4" RELATED [MONDO:Lexical, OMIM:606392]
synonym: "MODY insulin promoter factor-1 related" RELATED [GARD:0010659]
synonym: "MODY type 4" EXACT [DOID:0111103]
synonym: "MODY, type 4" RELATED [OMIM:606392]
synonym: "MODY, type IV" EXACT [OMIM:606392, OMIM:genemap2]
synonym: "MODY4" EXACT ABBREVIATION [DOID:0111103, MONDO:Lexical, OMIM:606392]
synonym: "PDX1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "PDX1-associated monogenic diabetes" EXACT [NCIT:C129746]
synonym: "type 4 maturity-onset diabetes of the young" RELATED [GARD:0010659]
xref: DOID:0111103 {source="MONDO:equivalentTo"}
xref: GARD:10659 {source="MONDO:GARD"}
xref: MEDGEN:318863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563451 {source="MONDO:equivalentTo"}
xref: NANDO:2201072 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129746 {source="MONDO:equivalentTo"}
xref: OMIM:606392 {source="MONDO:equivalentTo", source="DOID:0111103"}
xref: Orphanet:552 {source="GARD:0010659"}
xref: SCTID:609571007 {source="MONDO:equivalentTo"}
xref: UMLS:C1833382 {source="MEDGEN:318863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018911 {source="DC-OMIM:606392", source="DOID:0111103", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6107 ! PDX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6107 {source="MONDO:mim2gene_medgen"} ! PDX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4" xsd:anyURI {source="GARD:0010659"}

[Term]
id: MONDO:0011668
name: maturity-onset diabetes of the young type 6
def: "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes." [NCIT:C129745]
subset: gard_rare {source="GARD:10660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes mellitus MODY type 6" RELATED [GARD:0010660]
synonym: "maturity onset diabetes of the Young, type 6" EXACT [NCIT:C129745]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1" EXACT []
synonym: "maturity-onset diabetes of the young 6" EXACT [OMIM:606394, OMIM:genemap2]
synonym: "maturity-onset diabetes of the young, type 6" RELATED [MONDO:Lexical, OMIM:606394]
synonym: "MODY NEUROD1 related" RELATED [GARD:0010660]
synonym: "MODY type 6" EXACT [DOID:0111104]
synonym: "MODY, type 6" RELATED [OMIM:606394]
synonym: "MODY6" EXACT ABBREVIATION [DOID:0111104, MONDO:Lexical, OMIM:606394]
synonym: "NEUROD1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "NEUROD1-associated monogenic diabetes" EXACT [NCIT:C129745]
synonym: "neurogenic differentiation Factor 1-associated monogenic diabetes" EXACT [NCIT:C129745]
synonym: "type 6 maturity-onset diabetes of the young" RELATED [GARD:0010660]
xref: DOID:0111104 {source="MONDO:equivalentTo"}
xref: GARD:10660 {source="MONDO:GARD"}
xref: MEDGEN:344030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565231 {source="MONDO:equivalentTo"}
xref: NCIT:C129745 {source="MONDO:equivalentTo"}
xref: OMIM:606394 {source="MONDO:equivalentTo", source="DOID:0111104"}
xref: Orphanet:552 {source="OMIM:606394"}
xref: SCTID:609573005 {source="MONDO:equivalentTo"}
xref: UMLS:C1853371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344030"}
is_a: MONDO:0018911 {source="DC-OMIM:606394", source="DOID:0111104", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7762 ! NEUROD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7762 {source="MONDO:mim2gene_medgen"} ! NEUROD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6" xsd:anyURI {source="GARD:0010660"}

[Term]
id: MONDO:0011669
name: hypotonia-cystinuria syndrome
def: "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." [Orphanet:163690]
subset: disease_grouping
subset: gard_rare {source="GARD:16998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163690"}
subset: ordo_group_of_disorders {source="Orphanet:238517"}
subset: orphanet_rare {source="Orphanet:163690"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cystinuria with mitochondrial disease" EXACT [DOID:0060858, OMIM:606407]
synonym: "HCS" EXACT ABBREVIATION [Orphanet:163690]
synonym: "homozygous 2P16 deletion syndrome" RELATED [OMIM:606407]
synonym: "homozygous 2P16 deletion syndrome, formerly" RELATED [OMIM:606407]
synonym: "homozygous 2P21 deletion syndrome" RELATED [OMIM:606407]
synonym: "hypotonia-cystinuria syndrome" EXACT [OMIM:606407]
synonym: "hypotonia-cystinuria syndrome type 1" EXACT [MONDO:0016538]
synonym: "hypotonia-cystinuria type 1 syndrome" EXACT [Orphanet:238517]
xref: DOID:0060858 {source="MONDO:equivalentTo"}
xref: GARD:16998 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:163690", source="Orphanet:163690/attributed", source="Orphanet:163690/ntbt", source="Orphanet:238517", source="DOID:0060858", source="Orphanet:238517/attributed", source="Orphanet:238517/ntbt"}
xref: icd11.foundation:1852649756 {source="MONDO:equivalentTo", source="Orphanet:238517", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:341133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564710 {source="MONDO:equivalentTo"}
xref: OMIM:606407 {source="Orphanet:163690", source="MONDO:equivalentTo", source="Orphanet:163690/e", source="DOID:0060858"}
xref: Orphanet:163690 {source="MONDO:equivalentTo", source="OMIM:606407", source="MONDO:preferredExternal", source="DOID:0060858"}
xref: Orphanet:163693 {source="OMIM:606407"}
xref: Orphanet:238517 {source="MONDO:equivalentTo"}
xref: Orphanet:238523 {source="OMIM:606407"}
xref: SCTID:721173005 {source="MONDO:equivalentTo"}
xref: UMLS:C1848030 {source="MONDO:equivalentTo", source="MEDGEN:341133", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DOID:0060858"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="DOID:0060858"} ! syndromic disease
is_a: MONDO:0004069 {source="Orphanet:238517"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016884 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 2
is_a: MONDO:0019216 {source="Orphanet:238517", source="PMID:33340416"} ! inborn disorder of amino acid transport
relationship: excluded_subClassOf MONDO:0015962 {source="Orphanet:238517", source="https://orcid.org/0000-0001-5208-3432"} ! inherited renal tubular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3782" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0011670
name: Ehlers-Danlos syndrome due to tenascin-X deficiency
subset: gard_rare {source="GARD:8507", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:230839"}
subset: orphanet_rare {source="Orphanet:230839"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classical-like EDS" RELATED [GARD:0008507]
synonym: "classical-like Ehlers-Danlos syndrome" RELATED [GARD:0008507]
synonym: "clEDS" RELATED [GARD:0008507]
synonym: "EDS due to TNX deficiency" RELATED [MESH:C536193]
synonym: "EDS due to Tnx deficiency" RELATED [OMIM:606408]
synonym: "EDS, classic-like type" EXACT [Orphanet:230839]
synonym: "EDSCLL" RELATED ABBREVIATION [OMIM:606408]
synonym: "Ehlers-Danlos syndrome due to tenascin-X deficiency" EXACT [MESH:C536193, OMIM:606408]
synonym: "Ehlers-Danlos syndrome, classic-like" RELATED [OMIM:606408]
synonym: "Ehlers-Danlos syndrome, classic-like type" EXACT [Orphanet:230839]
synonym: "Ehlers-Danlos syndrome, classic-like, 1" EXACT [OMIM:606408, OMIM:genemap2]
synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" RELATED [MESH:C536193]
synonym: "TNX deficiency" RELATED [MESH:C536193]
synonym: "Tnx deficiency" RELATED [OMIM:606408]
xref: DOID:0080731 {source="MONDO:equivalentTo"}
xref: GARD:8507 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:230839", source="Orphanet:230839/attributed", source="Orphanet:230839/ntbt"}
xref: MEDGEN:336244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536193 {source="MONDO:equivalentTo"}
xref: OMIM:606408 {source="Orphanet:230839", source="MONDO:equivalentTo", source="Orphanet:230839/e"}
xref: Orphanet:230839 {source="MONDO:equivalentTo", source="OMIM:606408"}
xref: UMLS:C1848029 {source="MEDGEN:336244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:0011670/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0020066 {source="MESH:C536193", source="OMIM:606408", source="Orphanet:230839"} ! Ehlers-Danlos syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11976 {source="MONDO:mim2gene_medgen"} ! TNXB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011671
name: Huntington disease-like 2
def: "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities." [Orphanet:98934]
subset: gard_rare {source="GARD:16874", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98934"}
subset: orphanet_rare {source="Orphanet:98934"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HDL2" EXACT ABBREVIATION [DOID:0090104, MONDO:Lexical, OMIM:606438, Orphanet:98934]
synonym: "Huntington disease-like 2" EXACT [MONDO:Lexical, OMIM:606438]
synonym: "Huntington disease-like type 2" EXACT [DOID:0090104, MONDORULE:1, OMIM:606438, Orphanet:98934]
synonym: "Huntington's disease-like 2" RELATED [DOID:0090104]
xref: DOID:0090104 {source="MONDO:equivalentTo"}
xref: GARD:16874 {source="MONDO:GARD"}
xref: ICD10CM:G10 {source="Orphanet:98934", source="DOID:0090104", source="Orphanet:98934/attributed", source="Orphanet:98934/ntbt"}
xref: MEDGEN:341120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564708 {source="MONDO:equivalentTo"}
xref: OMIM:606438 {source="MONDO:equivalentTo", source="Orphanet:98934", source="DOID:0090104", source="Orphanet:98934/e"}
xref: Orphanet:98934 {source="OMIM:606438", source="MONDO:equivalentTo", source="DOID:0090104"}
xref: SCTID:721228006 {source="MONDO:equivalentTo"}
xref: UMLS:C1847987 {source="MEDGEN:341120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016987 {source="Orphanet:98934"} ! neuroacanthocytosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14203 {source="MONDO:mim2gene_medgen"} ! JPH3

[Term]
id: MONDO:0011672
name: persistent polyclonal B-cell lymphocytosis
def: "Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly." [Orphanet:300324]
subset: gard_rare {source="GARD:17366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300324"}
subset: orphanet_rare {source="Orphanet:300324"}
subset: rare
synonym: "persistent polyclonal B-cell lymphocytosis" EXACT [MONDO:Lexical, OMIM:606445]
synonym: "persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes" EXACT [Orphanet:300324]
synonym: "PPBL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606445, Orphanet:300324]
xref: GARD:17366 {source="MONDO:GARD"}
xref: ICD10CM:I72.8 {source="Orphanet:300324/ntbt", source="Orphanet:300324"}
xref: MEDGEN:341117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564707 {source="MONDO:equivalentTo"}
xref: OMIM:606445 {source="Orphanet:300324", source="MONDO:equivalentTo", source="Orphanet:300324/e"}
xref: Orphanet:300324 {source="OMIM:606445", source="MONDO:equivalentTo"}
xref: SCTID:763864008 {source="MONDO:equivalentTo"}
xref: UMLS:C1847973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341117"}
is_a: MONDO:0015757 {source="Orphanet:300324"} ! lymphoid hemopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16393 {source="MONDO:mim2gene_medgen"} ! CARD11

[Term]
id: MONDO:0011673
name: autosomal dominant nonsyndromic hearing loss 30
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26." [DOID:0110560, PMID:11571554]
subset: gard_rare {source="GARD:18114", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 30" NARROW [DOID:0110560]
synonym: "autosomal dominant nonsyndromic deafness 30" NARROW [OMIM:606451]
synonym: "autosomal dominant nonsyndromic deafness type 30" NARROW [DOID:0110560, MONDORULE:2]
synonym: "deafness, autosomal dominant 30" NARROW [MONDO:Lexical, OMIM:606451, OMIM:genemap2]
synonym: "DFNA30" NARROW ABBREVIATION [DOID:0110560, MONDO:Lexical, OMIM:606451]
xref: DOID:0110560 {source="MONDO:equivalentTo"}
xref: GARD:18114 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110560"}
xref: MEDGEN:341116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564706 {source="MONDO:equivalentTo"}
xref: OMIM:606451 {source="MONDO:equivalentTo", source="DOID:0110560"}
xref: Orphanet:90635 {source="OMIM:606451"}
xref: UMLS:C1847972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341116"}
is_a: MONDO:0019587 {source="DC-OMIM:606451", source="DOID:0110560", source="OMIM:606451"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011674
name: Charcot-Marie-Tooth disease dominant intermediate B
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." [Orphanet:100044]
subset: gard_rare {source="GARD:12438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100044"}
subset: orphanet_rare {source="Orphanet:100044"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type B" RELATED [Orphanet:100044]
synonym: "Charcot-Marie-Tooth disease caused by mutation in DNM2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type B" EXACT [DOID:0110197, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, axonal type 2M" EXACT [OMIM:606482, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2M" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate B" RELATED [MONDO:Lexical, OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type B" EXACT [MONDORULE:1, OMIM:606482]
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate B" EXACT [DOID:0110197]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2M" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B" RELATED [OMIM:606482]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia" RELATED [OMIM:606482]
synonym: "CMTDI1" EXACT ABBREVIATION [DOID:0110197]
synonym: "Cmtdi1" RELATED [OMIM:606482]
synonym: "CMTDIB" EXACT ABBREVIATION [DOID:0110197, MONDO:Lexical, OMIM:606482, Orphanet:100044]
synonym: "DI-CMTB" EXACT [DOID:0110197]
synonym: "Di-CMTB" RELATED [OMIM:606482]
synonym: "DNM2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012438]
xref: DOID:0110197 {source="MONDO:equivalentTo"}
xref: GARD:12438 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:100044", source="Orphanet:100044/attributed", source="Orphanet:100044/ntbt", source="DOID:0110197"}
xref: MEDGEN:338346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606482 {source="Orphanet:100044", source="MONDO:equivalentTo", source="Orphanet:100044/e", source="DOID:0110197"}
xref: Orphanet:100044 {source="MONDO:equivalentTo", source="OMIM:606482", source="DOID:0110197"}
xref: Orphanet:228179 {source="OMIM:606482"}
xref: SCTID:765745007 {source="MONDO:equivalentTo"}
xref: UMLS:C1847902 {source="MEDGEN:338346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110197/inferred", source="MONDO:Redundant", source="OMIM:606482", source="Orphanet:100044/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019548 {source="Orphanet:100044", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2974 ! DNM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2974 {source="MONDO:mim2gene_medgen"} ! DNM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011675
name: Charcot-Marie-Tooth Disease, axonal, type 2GG
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." [Orphanet:100043]
subset: gard_rare {source="GARD:12437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100043"}
subset: orphanet_rare {source="Orphanet:100043"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110202]
synonym: "Charcot-Marie-Tooth disease dominant intermediate A" EXACT [OMIM:606483]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type A" EXACT [DOID:0110202, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate A" RELATED [MONDO:Lexical, OMIM:606483]
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate A" EXACT [DOID:0110202]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate a" RELATED [OMIM:606483]
synonym: "CMT2GG" EXACT ABBREVIATION [OMIM:606483]
synonym: "CMTDIA" EXACT ABBREVIATION [DOID:0110202, MONDO:Lexical, OMIM:606483, Orphanet:100043]
synonym: "DI-CMTA" EXACT [DOID:0110202]
synonym: "Di-Cmta" RELATED [OMIM:606483]
xref: DOID:0110202 {source="MONDO:equivalentTo"}
xref: GARD:12437 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:100043", source="Orphanet:100043/attributed", source="Orphanet:100043/ntbt", source="DOID:0110202"}
xref: MEDGEN:1794143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564702 {source="MONDO:equivalentTo"}
xref: OMIM:606483 {source="Orphanet:100043", source="MONDO:equivalentTo", source="Orphanet:100043/e", source="DOID:0110202"}
xref: Orphanet:100043 {source="MONDO:equivalentTo", source="OMIM:606483", source="DOID:0110202"}
xref: SCTID:765744006 {source="MONDO:equivalentTo"}
xref: UMLS:C5561933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794143"}
is_a: MONDO:0015626 {source="DOID:0110202/inferred", source="MESH:C564702", source="MONDO:Redundant", source="OMIM:606483", source="Orphanet:100043/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019548 {source="Orphanet:100043", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease

[Term]
id: MONDO:0011676
name: PHACE syndrome
def: "PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." [Orphanet:42775]
subset: gard_rare {source="GARD:8338", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1927", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:42775"}
subset: ordo_malformation_syndrome {source="Orphanet:42775"}
subset: orphanet_rare {source="Orphanet:42775"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aortic aneurysm, giant congenital" RELATED [OMIM:606519]
synonym: "P-CIIS" RELATED [GARD:0008338]
synonym: "pascual-Castroviejo syndrome type 2" EXACT [Orphanet:42775]
synonym: "pascual-Castroviejo type II syndrome" RELATED [GARD:0008338]
synonym: "PHACE association" RELATED [OMIM:606519]
synonym: "Phaces association" RELATED [OMIM:606519]
synonym: "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities" RELATED [GARD:0008338]
xref: GARD:8338 {source="MONDO:GARD"}
xref: ICD10CM:Q28.8 {source="Orphanet:42775", source="Orphanet:42775/attributed", source="Orphanet:42775/ntbt"}
xref: MedDRA:10068032 {source="Orphanet:42775", source="Orphanet:42775/e"}
xref: MEDGEN:376231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1927 {source="MONDO:NORD"}
xref: OMIM:606519 {source="Orphanet:42775", source="MONDO:equivalentTo", source="Orphanet:42775/e"}
xref: Orphanet:42775 {source="MONDO:equivalentTo", source="OMIM:606519"}
xref: UMLS:C1847874 {source="MEDGEN:376231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015160 {source="Orphanet:42775"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0015145 {source="Orphanet:42775", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurovascular malformation
relationship: excluded_subClassOf MONDO:0018718 {source="Orphanet:42775", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete vascular tumor with associated anomalies
relationship: excluded_subClassOf MONDO:0018729 {source="MONDO:Redundant", source="Orphanet:42775", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic vascular tumor
relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:42775", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Moyamoya syndrome
relationship: excluded_subClassOf MONDO:0020182 {source="Orphanet:42775", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete palpebral tumor with a vascular malformation

[Term]
id: MONDO:0011677
name: Megarbane syndrome
synonym: "Megarbane syndrome" EXACT [OMIM:606527]
synonym: "short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation" RELATED [GARD:0009979]
xref: MEDGEN:339864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536145 {source="MONDO:equivalentTo"}
xref: OMIM:606527 {source="MONDO:equivalentTo"}
xref: UMLS:C1847871 {source="MEDGEN:339864", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome" xsd:anyURI {source="GARD:0009979"}

[Term]
id: MONDO:0011678
name: homozygous 11P15-p14 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 11p15-p14 deletion syndrome" EXACT [OMIM:606528, OMIM:genemap2]
synonym: "homozygous 11P15-p14 deletion syndrome" EXACT [OMIM:606528]
synonym: "hyperinsulinism, infantile, with enteropathy and deafness" RELATED [OMIM:606528]
xref: MEDGEN:338336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564701 {source="MONDO:equivalentTo"}
xref: OMIM:606528 {source="MONDO:equivalentTo"}
xref: UMLS:C1847866 {source="MEDGEN:338336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:606528"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016893 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 11
relationship: disease_arises_from_structure CHR:9606-chr11p15-p14 {source="https://orcid.org/0000-0002-4142-7153"} ! 11p15-p14 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011679
name: craniosynostosis syndrome, autosomal recessive
def: "Autosomal recessive form of craniosynostosis." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive craniosynostosis" EXACT [MONDO:design_pattern]
synonym: "craniosynostosis syndrome, autosomal recessive" EXACT [OMIM:606529]
synonym: "craniosynostosis, autosomal recessive" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_recessive]
xref: MEDGEN:338335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564700 {source="MONDO:equivalentTo"}
xref: OMIM:606529 {source="MONDO:equivalentTo"}
xref: UMLS:C1847865 {source="MEDGEN:338335", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MESH:C564700", source="MONDO:Redundant"} ! craniosynostosis
intersection_of: MONDO:0015469 ! craniosynostosis
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0011680
name: autosomal recessive congenital ichthyosis 3
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI3" EXACT ABBREVIATION [DOID:0060711, MONDO:Lexical, OMIM:606545]
synonym: "autosomal recessive congenital ichthyosis type 3" EXACT [DOID:0060711, MONDORULE:1]
synonym: "collodion baby, self-healing" RELATED [OMIM:606545]
synonym: "ichthyosis, congenital, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:606545]
synonym: "ichthyosis, congenital, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:606545]
synonym: "ichthyosis, lamellar, 5" RELATED [OMIM:606545]
synonym: "ichthyosis, lamellar, 5, formerly" RELATED [OMIM:606545]
synonym: "lamellar ichthyosis 5" EXACT [DOID:0060711]
xref: DOID:0060711 {source="MONDO:equivalentTo"}
xref: GARD:15393 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060711"}
xref: MEDGEN:761665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564699 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:606545 {source="MONDO:equivalentTo", source="DOID:0060711"}
xref: Orphanet:281122 {source="OMIM:606545"}
xref: Orphanet:313 {source="OMIM:606545"}
xref: Orphanet:79394 {source="OMIM:606545"}
xref: UMLS:C3539888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761665"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:606545"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017267 {source="Orphanet:281122/btnt"} ! self-healing collodion baby
is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis
is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13743 ! ALOXE3
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606545"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13743 {source="MONDO:mim2gene_medgen"} ! ALOXE3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011681
name: episodic ataxia type 4
def: "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." [Orphanet:79136]
subset: gard_rare {source="GARD:16703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79136"}
subset: orphanet_rare {source="Orphanet:79136"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia, periodic vestibulocerebellar" RELATED [OMIM:606552]
synonym: "EA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606552]
synonym: "episodic ataxia, type 4" RELATED [MONDO:Lexical, OMIM:606552]
synonym: "PATX" EXACT ABBREVIATION [Orphanet:79136]
synonym: "periodic vestibulocerebellar ataxia" EXACT [OMIM:606552, Orphanet:79136]
xref: DOID:0050992 {source="MONDO:equivalentTo"}
xref: GARD:16703 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:79136/attributed", source="Orphanet:79136/ntbt", source="Orphanet:79136"}
xref: MEDGEN:376222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564698 {source="MONDO:equivalentTo"}
xref: OMIM:606552 {source="DOID:0050992", source="Orphanet:79136/e", source="MONDO:equivalentTo", source="Orphanet:79136"}
xref: Orphanet:79136 {source="MONDO:equivalentTo", source="OMIM:606552"}
xref: SCTID:718754008 {source="MONDO:equivalentTo"}
xref: UMLS:C1847843 {source="MEDGEN:376222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016227 {source="DOID:0050992", source="OMIM:606552", source="Orphanet:79136"} ! hereditary episodic ataxia

[Term]
id: MONDO:0011682
name: episodic ataxia type 3
def: "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." [Orphanet:79135]
subset: gard_rare {source="GARD:16702", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79135"}
subset: orphanet_rare {source="Orphanet:79135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia, episodic, with vertigo and tinnitus" RELATED [OMIM:606554]
synonym: "EA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606554]
synonym: "episodic ataxia, type 3" RELATED [MONDO:Lexical, OMIM:606554]
synonym: "episodic ataxia-vertigo-tinnitus-myokymia syndrome" EXACT [Orphanet:79135]
xref: DOID:0050991 {source="MONDO:equivalentTo"}
xref: GARD:16702 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:79135/attributed", source="Orphanet:79135/ntbt", source="Orphanet:79135"}
xref: MEDGEN:376220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564697 {source="MONDO:equivalentTo"}
xref: OMIM:606554 {source="DOID:0050991", source="Orphanet:79135/e", source="MONDO:equivalentTo", source="Orphanet:79135"}
xref: Orphanet:79135 {source="MONDO:equivalentTo", source="OMIM:606554"}
xref: SCTID:718755009 {source="MONDO:equivalentTo"}
xref: UMLS:C1847839 {source="MEDGEN:376220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016227 {source="DOID:0050991", source="OMIM:606554", source="Orphanet:79135"} ! hereditary episodic ataxia

[Term]
id: MONDO:0011683
name: oculocutaneous albinism type 4
def: "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." [Orphanet:79435]
subset: gard_rare {source="GARD:16722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79435"}
subset: orphanet_rare {source="Orphanet:79435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism, oculocutaneous, type 4" RELATED [OMIM:606574]
synonym: "albinism, oculocutaneous, type IV" RELATED [MONDO:Lexical, OMIM:606574]
synonym: "OCA4" EXACT ABBREVIATION [DOID:0070098, MONDO:Lexical, OMIM:606574, Orphanet:79435]
synonym: "oculocutaneous albinism caused by mutation in SLC45A2" EXACT [MONDO:design_pattern]
synonym: "oculocutaneous albinism type IV" RELATED [DOID:0070098]
synonym: "oculocutaneous albinism, type 4" RELATED [OMIM:606574]
synonym: "SLC45A2 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070098 {source="MONDO:equivalentTo"}
xref: GARD:16722 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:79435", source="Orphanet:79435/attributed", source="Orphanet:79435/ntbt"}
xref: MEDGEN:338324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564696 {source="MONDO:equivalentTo"}
xref: OMIM:606574 {source="DOID:0070098", source="Orphanet:79435", source="MONDO:equivalentTo", source="Orphanet:79435/e"}
xref: Orphanet:79435 {source="MONDO:equivalentTo", source="OMIM:606574"}
xref: SCTID:715632003 {source="MONDO:equivalentTo"}
xref: UMLS:C1847836 {source="MEDGEN:338324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018910 {source="DC-OMIM:606574", source="DOID:0070098", source="MESH:C564696", source="MONDO:Redundant", source="OMIM:606574", source="Orphanet:79435"} ! oculocutaneous albinism
intersection_of: MONDO:0018910 ! oculocutaneous albinism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16472 ! SLC45A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16472 {source="MONDO:mim2gene_medgen"} ! SLC45A2

[Term]
id: MONDO:0011684
name: vitiligo-associated multiple autoimmune disease susceptibility 1
subset: predisposition
synonym: "systemic lupus erythematosus, vitiligo-related" RELATED [OMIM:606579]
synonym: "VAMAS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606579]
synonym: "vitiligo" RELATED [OMIM:606579]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 1" EXACT [MONDO:Lexical, OMIM:606579]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility type 1" EXACT [MONDORULE:1, OMIM:606579]
xref: MEDGEN:335788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606579 {source="MONDO:equivalentTo"}
xref: Orphanet:247871 {source="MONDO:relatedTo", source="OMIM:606579"}
xref: Orphanet:3435 {source="OMIM:606579"}
xref: UMLS:C1847835 {source="MEDGEN:335788", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:606579"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14374 {source="MONDO:mim2gene_medgen"} ! NLRP1
relationship: predisposes_towards MONDO:0007179 {source="OMIM:606579"} ! autoimmune disease

[Term]
id: MONDO:0011685
name: polysubstance abuse, susceptibility to
subset: predisposition
synonym: "drug addiction, susceptibility to" RELATED [OMIM:606581]
synonym: "polysubstance abuse, susceptibility to" EXACT [MONDO:Lexical, OMIM:606581]
synonym: "PSAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606581]
xref: MEDGEN:339856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606581 {source="MONDO:equivalentTo"}
xref: UMLS:C1847831 {source="MEDGEN:339856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:606581"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:606581", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3553 {source="MONDO:mim2gene_medgen"} ! FAAH
relationship: predisposes_towards MONDO:0005303 {source="OMIM:606581"} ! drug dependence
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011686
name: DNA ligase IV deficiency
def: "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." [Orphanet:99812]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15000", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99812"}
subset: orphanet_rare {source="Orphanet:99812"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DNA ligase IV deficiency" EXACT CLINGEN_LABEL [Orphanet:99812]
synonym: "LIG4 syndrome" EXACT [DOID:0060021, OMIM:606593]
synonym: "ligase 4 syndrome" EXACT [Orphanet:99812]
xref: DOID:0060021 {source="MONDO:equivalentTo"}
xref: GARD:15000 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="Orphanet:99812/attributed", source="Orphanet:99812/ntbt", source="Orphanet:99812"}
xref: MEDGEN:339855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564694 {source="MONDO:equivalentTo"}
xref: NCIT:C122657 {source="MONDO:equivalentTo"}
xref: OMIM:606593 {source="DOID:0060021", source="Orphanet:99812", source="MONDO:equivalentTo", source="Orphanet:99812/e"}
xref: Orphanet:99812 {source="MONDO:equivalentTo", source="OMIM:606593"}
xref: SCTID:724177005 {source="MONDO:equivalentTo"}
xref: UMLS:C1847827 {source="MEDGEN:339855", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C122657"} ! syndromic disease
is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0021147 {source="Orphanet:99812", source="Orphanet:99812/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0001510 ! Growth delay
relationship: disease_has_feature HP:0002721 ! Immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:99812", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6601 {source="MONDO:mim2gene_medgen"} ! LIG4

[Term]
id: MONDO:0011687
name: Charcot-Marie-Tooth disease axonal type 2F
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." [Orphanet:99940]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99940"}
subset: orphanet_rare {source="Orphanet:99940"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [DOID:0110163]
synonym: "Charcot Marie Tooth disease type 2F" RELATED [GARD:0009194]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2F" RELATED [GARD:0009194]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2F" RELATED [GARD:0009194, MONDO:Lexical, OMIM:606595]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2F" RELATED [GARD:0009194, OMIM:606595]
synonym: "Charcot-Marie-Tooth neuronal type 2F" EXACT [DOID:0110163]
synonym: "Charcot-Marie-Tooth neuropathy type 2F" EXACT [DOID:0110163]
synonym: "Charcot-Marie-Tooth neuropathy, type 2F" RELATED [GARD:0009194, OMIM:606595]
synonym: "CMT 2F" RELATED [GARD:0009194]
synonym: "CMT2F" EXACT ABBREVIATION [DOID:0110163, MONDO:Lexical, OMIM:606595, Orphanet:99940]
synonym: "HSPB1 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110163 {source="MONDO:equivalentTo"}
xref: GARD:9194 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99940", source="Orphanet:99940/attributed", source="Orphanet:99940/ntbt", source="DOID:0110163"}
xref: MEDGEN:335784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535413 {source="MONDO:equivalentTo"}
xref: OMIM:606595 {source="Orphanet:99940", source="GARD:0009194", source="MONDO:equivalentTo", source="Orphanet:99940/e", source="DOID:0110163"}
xref: Orphanet:99940 {source="GARD:0009194", source="MONDO:equivalentTo", source="DOID:0110163", source="OMIM:606595"}
xref: SCTID:719510006 {source="MONDO:equivalentTo"}
xref: UMLS:C1847823 {source="MEDGEN:335784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110163/inferred", source="MESH:C535413", source="MONDO:Redundant", source="OMIM:606595", source="Orphanet:99940/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110163", source="MONDO:Redundant", source="Orphanet:99940"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5246 ! HSPB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5246 {source="MONDO:mim2gene_medgen"} ! HSPB1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f" xsd:anyURI {source="GARD:0009194"}

[Term]
id: MONDO:0011688
name: muscular dystrophy-dystroglycanopathy type B5
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." [DOID:0110635, PMID:11592034, PMID:14652796]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy 1C" EXACT [DOID:0110635]
synonym: "congenital muscular dystrophy-FKRP related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "FKRP-related congenital muscular dystrophy" EXACT [DOID:0110635]
synonym: "MDC1C" EXACT ABBREVIATION [DOID:0110635]
synonym: "MDDGB5" EXACT ABBREVIATION [DOID:0110635, MONDO:Lexical, OMIM:606612]
synonym: "muscular dystrophy, congenital, 1C" RELATED [OMIM:606612]
synonym: "muscular dystrophy, congenital, FKRP-related" RELATED [OMIM:606612]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5" EXACT [DOID:0110635, MONDO:Lexical, OMIM:606612]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT DEPRECATED [DOID:0110635, MONDO:Lexical, OMIM:606612]
xref: DOID:0110635 {source="MONDO:equivalentTo"}
xref: ICD10CM:G71.2 {source="DOID:0110635"}
xref: MEDGEN:335764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564691 {source="MONDO:equivalentTo"}
xref: OMIM:606612 {source="DOID:0110635", source="MONDO:equivalentTo"}
xref: Orphanet:370959 {source="MONDO:relatedTo", source="OMIM:606612"}
xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:606612"}
xref: Orphanet:370980 {source="MONDO:relatedTo", source="OMIM:606612"}
xref: Orphanet:52428 {source="DOID:0110635", source="OMIM:606612", source="MONDO:equivalentObsolete"}
xref: UMLS:C1847759 {source="MEDGEN:335764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000172 {source="DC-OMIM:606612", source="OMIM:606612"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0700066 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKRP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 {source="MONDO:mim2gene_medgen"} ! FKRP

[Term]
id: MONDO:0011689
name: dyslexia, susceptibility to, 6
subset: predisposition
synonym: "dyslexia, susceptibility to, 6" EXACT [OMIM:606616]
synonym: "DYX6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606616]
xref: MEDGEN:335762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606616 {source="MONDO:equivalentTo"}
xref: UMLS:C1847757 {source="MEDGEN:335762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005489 {source="DC-OMIM:606616", source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia
relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0002-4142-7153"} ! dyslexia

[Term]
id: MONDO:0011690
name: Camurati-Engelmann disease, type 2
def: "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://github.com/monarch-initiative/mondo/issues/163, Wikipedia:Camurati%E2%80%93Engelmann_disease#Classification]
subset: n_of_one
subset: speculative
synonym: "CAEND2" RELATED ABBREVIATION [OMIM:606631]
synonym: "Camurati Engelmann disease, type 2" RELATED [GARD:0008748]
synonym: "Camurati-Engelmann disease, type 2" EXACT [OMIM:606631]
synonym: "progressive diaphyseal dysplasia with striations of the bones" RELATED [GARD:0008748]
xref: MEDGEN:419470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537978 {source="MONDO:equivalentTo"}
xref: OMIM:606631 {source="MONDO:equivalentTo"}
xref: UMLS:C2931683 {source="MONDO:equivalentTo", source="MEDGEN:419470", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_shares_features_of MONDO:0007542 {source="DC-OMIM:606631", source="https://orcid.org/0000-0002-6601-2165"} ! Camurati-Engelmann disease

[Term]
id: MONDO:0011691
name: amyotrophic lateral sclerosis type 3
subset: gard_rare {source="GARD:10501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS3" RELATED ABBREVIATION [DOID:0060195, MONDO:Lexical, OMIM:606640]
synonym: "amyotrophic lateral sclerosis 3" EXACT [DOID:0060195, MONDO:Lexical, OMIM:606640]
xref: DOID:0060195 {source="MONDO:equivalentTo"}
xref: GARD:10501 {source="MONDO:GARD"}
xref: MEDGEN:339829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564688 {source="MONDO:equivalentTo"}
xref: OMIM:606640 {source="MONDO:equivalentTo", source="DOID:0060195"}
xref: Orphanet:803 {source="OMIM:606640"}
xref: UMLS:C1847735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339829"}
is_a: MONDO:0005144 {source="DC-OMIM:606640", source="DOID:0060195", source="MESH:C564688", source="OMIM:606640"} ! familial amyotrophic lateral sclerosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10501/amyotrophic-lateral-sclerosis-type-3" xsd:anyURI {source="GARD:0010501"}

[Term]
id: MONDO:0011692
name: obsolete basal ganglia calcification, idiopathic, 2
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4277" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024538

[Term]
id: MONDO:0011693
name: glaucoma, normal tension, susceptibility to
subset: clingen {source="MONDO:CLINGEN"}
subset: predisposition
synonym: "glaucoma, normal pressure, susceptibility to" RELATED [OMIM:606657]
synonym: "glaucoma, normal tension, susceptibility to" EXACT [OMIM:606657]
synonym: "NTG" RELATED ABBREVIATION [OMIM:606657]
xref: MEDGEN:335756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606657 {source="MONDO:equivalentTo"}
xref: UMLS:C1847730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335756"}
is_a: MONDO:0020573 {source="OMIM:606657"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0006837 ! low tension glaucoma

[Term]
id: MONDO:0011694
name: spinocerebellar ataxia type 15/16
def: "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment." [Orphanet:98769]
comment: In orphanet, SCA16 is obsoleted in favor of 15/16
subset: gard_rare {source="GARD:10477", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98769"}
subset: orphanet_rare {source="Orphanet:98769"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606658]
synonym: "SCA15/16" EXACT [Orphanet:98769]
synonym: "SCA16 (formerly)" RELATED [GARD:0010477]
synonym: "SCAR16" EXACT ABBREVIATION [NCIT:C150250]
synonym: "spinocerebellar ataxia 15" RELATED [MONDO:Lexical, OMIM:606658]
synonym: "spinocerebellar ataxia 16" RELATED [OMIM:606658]
synonym: "spinocerebellar ataxia 16 (formerly)" RELATED [GARD:0010477]
synonym: "spinocerebellar ataxia 16, formerly" RELATED [OMIM:606658]
synonym: "spinocerebellar ataxia type 15" EXACT [MONDORULE:2, OMIM:606658]
synonym: "spinocerebellar ataxia type 15/16" EXACT [MONDO:0020299]
synonym: "spinocerebellar ataxia type 16" EXACT [MONDO:0000561]
xref: DOID:0050965 {source="MONDO:equivalentTo"}
xref: DOID:0050966 {source="MONDO:equivalentObsolete"}
xref: GARD:10477 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98769", source="Orphanet:98769/attributed", source="Orphanet:98769/ntbt"}
xref: MEDGEN:338301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564685 {source="MONDO:equivalentTo"}
xref: NCIT:C150250 {source="MONDO:equivalentTo"}
xref: OMIM:606658 {source="MONDO:equivalentTo", source="DOID:0050965", source="Orphanet:98769/e"}
xref: Orphanet:98769 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:98770 {source="MONDO:equivalentObsolete", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:716724006 {source="MONDO:equivalentTo"}
xref: UMLS:C1847725 {source="MEDGEN:338301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:98769"} ! autosomal dominant cerebellar ataxia type I
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0011695
name: melanoma, uveal, susceptibility to, 1
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "melanoma, uveal, susceptibility to, 1" EXACT [OMIM:606660]
synonym: "melanoma, uveal, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606660]
synonym: "UVM1" EXACT [OMIM:606660]
xref: MEDGEN:376198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606660 {source="MONDO:equivalentTo"}
xref: Orphanet:39044 {source="OMIM:606660"}
xref: UMLS:C1847724 {source="MEDGEN:376198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007966 {source="OMIM:606660", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to uveal melanoma
relationship: excluded_subClassOf MONDO:0006486 {source="DC-OMIM:606660", source="https://orcid.org/0000-0001-5208-3432"} ! uveal melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2656" xsd:anyURI

[Term]
id: MONDO:0011696
name: melanoma, uveal, susceptibility to, 2
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "melanoma, uveal, susceptibility to, 2" EXACT [OMIM:606661]
synonym: "melanoma, uveal, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606661]
synonym: "UVM2" EXACT [OMIM:606661]
xref: MEDGEN:339826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606661 {source="MONDO:equivalentTo"}
xref: Orphanet:39044 {source="OMIM:606661"}
xref: UMLS:C1847723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339826"}
is_a: MONDO:0007966 {source="OMIM:606661", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to uveal melanoma
relationship: excluded_subClassOf MONDO:0006486 {source="DC-OMIM:606661", source="https://orcid.org/0000-0001-5208-3432"} ! uveal melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2656" xsd:anyURI

[Term]
id: MONDO:0011697
name: Waardenburg syndrome type 2C
def: "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23." [DOID:0110951, PMID:11810298, PMID:20127975]
subset: gard_rare {source="GARD:15396", source="MONDO:GARD"}
subset: rare
synonym: "Waardenburg syndrome type IIC" EXACT [DOID:0110951]
synonym: "Waardenburg syndrome, type 2C" RELATED [MONDO:Lexical, OMIM:606662]
synonym: "WS2C" EXACT ABBREVIATION [DOID:0110951, MONDO:Lexical, OMIM:606662]
xref: DOID:0110951 {source="MONDO:equivalentTo"}
xref: GARD:15396 {source="MONDO:GARD"}
xref: MEDGEN:335755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564684 {source="MONDO:equivalentTo"}
xref: OMIM:606662 {source="DOID:0110951", source="MONDO:equivalentTo"}
xref: Orphanet:3440 {source="OMIM:606662"}
xref: Orphanet:895 {source="OMIM:606662"}
xref: UMLS:C1847722 {source="MEDGEN:335755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="DOID:0110951", source="MONDO:Redundant", source="OMIM:606662"} ! Waardenburg syndrome
is_a: MONDO:0019517 {source="https://orcid.org/0000-0002-6601-2165"} ! Waardenburg syndrome type 2

[Term]
id: MONDO:0011698
name: glycine N-methyltransferase deficiency
def: "Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases." [https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289891"}
subset: orphanet_rare {source="Orphanet:289891"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Glycine N-methyltransferase deficiency" EXACT [Orphanet:289891]
synonym: "glycine N-methyltransferase deficiency" EXACT CLINGEN_LABEL [OMIM:606664]
synonym: "GNMT deficiency" EXACT [DOID:0111037, OMIM:606664]
synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [DOID:0111037]
synonym: "hypermethioninemia due to GNMT deficiency" EXACT [DOID:0111037, Orphanet:289891]
xref: DOID:0111037 {source="MONDO:equivalentTo"}
xref: GARD:10764 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:289891/attributed", source="Orphanet:289891/ntbt", source="Orphanet:289891", source="DOID:0111037"}
xref: MEDGEN:338300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606664 {source="Orphanet:289891/e", source="MONDO:equivalentTo", source="Orphanet:289891", source="DOID:0111037"}
xref: Orphanet:289891 {source="MONDO:equivalentTo", source="OMIM:606664", source="DOID:0111037"}
xref: SCTID:763720007 {source="MONDO:equivalentTo"}
xref: UMLS:C1847720 {source="MEDGEN:338300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000351 {source="DOID:0111037"} ! disorder of methionine catabolism
is_a: MONDO:0019222 {source="Orphanet:289891"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4415 {source="MONDO:mim2gene_medgen"} ! GNMT
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency" xsd:anyURI {source="GARD:0010764"}

[Term]
id: MONDO:0011699
name: inflammatory bowel disease 8
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 16p." [DOID:0110904, PMID:11752413]
synonym: "IBD8" EXACT ABBREVIATION [DOID:0110904, MONDO:Lexical, OMIM:606668]
synonym: "inflammatory bowel disease 8" EXACT [MONDO:Lexical, OMIM:606668]
synonym: "inflammatory bowel disease type 8" EXACT [DOID:0110904, MONDORULE:1]
xref: DOID:0110904 {source="MONDO:equivalentTo"}
xref: MEDGEN:335753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564682 {source="MONDO:equivalentTo"}
xref: OMIM:606668 {source="MONDO:equivalentTo", source="DOID:0110904"}
xref: Orphanet:206 {source="OMIM:606668"}
xref: Orphanet:771 {source="OMIM:606668"}
xref: UMLS:C1847719 {source="MEDGEN:335753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DC-OMIM:606668", source="DOID:0110904", source="MESH:C564682", source="OMIM:606668"} ! inflammatory bowel disease

[Term]
id: MONDO:0011700
name: inflammatory bowel disease 6
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13." [DOID:0110907, PMID:10777714]
synonym: "IBD6" EXACT ABBREVIATION [DOID:0110907, MONDO:Lexical, OMIM:606674]
synonym: "inflammatory bowel disease 6" EXACT [MONDO:Lexical, OMIM:606674]
synonym: "inflammatory bowel disease type 6" EXACT [DOID:0110907, MONDORULE:1]
xref: DOID:0110907 {source="MONDO:equivalentTo"}
xref: MEDGEN:376191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564681 {source="MONDO:equivalentTo"}
xref: OMIM:606674 {source="MONDO:equivalentTo", source="DOID:0110907"}
xref: Orphanet:206 {source="OMIM:606674"}
xref: Orphanet:771 {source="OMIM:606674"}
xref: UMLS:C1847692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376191"}
is_a: MONDO:0005265 {source="DC-OMIM:606674", source="DOID:0110907", source="MESH:C564681", source="OMIM:606674"} ! inflammatory bowel disease

[Term]
id: MONDO:0011701
name: inflammatory bowel disease 4
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12." [DOID:0110903, PMID:10747815]
synonym: "IBD4" EXACT ABBREVIATION [DOID:0110903, MONDO:Lexical, OMIM:606675]
synonym: "inflammatory bowel disease 4" EXACT [MONDO:Lexical, OMIM:606675]
synonym: "inflammatory bowel disease type 4" EXACT [DOID:0110903, MONDORULE:1]
xref: DOID:0110903 {source="MONDO:equivalentTo"}
xref: MEDGEN:339822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564680 {source="MONDO:equivalentTo"}
xref: OMIM:606675 {source="DOID:0110903", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:606675"}
xref: Orphanet:771 {source="OMIM:606675"}
xref: UMLS:C1847691 {source="MEDGEN:339822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DC-OMIM:606675", source="DOID:0110903", source="MESH:C564680", source="OMIM:606675"} ! inflammatory bowel disease

[Term]
id: MONDO:0011702
name: dilated cardiomyopathy 1L
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1L" RELATED [MONDO:Lexical, OMIM:606685]
synonym: "cardiomyopathy, dilated, type 1L" EXACT [MONDORULE:4, OMIM:606685]
synonym: "CMD1L" EXACT ABBREVIATION [DOID:0110436, MONDO:Lexical, OMIM:606685]
synonym: "dilated cardiomyopathy type 1L" EXACT [DOID:0110436, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in SGCD" EXACT [MONDO:design_pattern]
synonym: "SGCD familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110436 {source="MONDO:equivalentTo"}
xref: GARD:15397 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110436"}
xref: MEDGEN:335735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564679 {source="MONDO:equivalentTo"}
xref: OMIM:606685 {source="DOID:0110436", source="MONDO:equivalentTo"}
xref: UMLS:C1847667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335735"}
is_a: MONDO:0016144 ! qualitative or quantitative defects of delta-sarcoglycan
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:606685"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10807 {source="MONDO:mim2gene_medgen"} ! SGCD

[Term]
id: MONDO:0011703
name: spongiform encephalopathy with neuropsychiatric features
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "spongiform encephalopathy with neuropsychiatric features" EXACT [OMIM:606688]
xref: MEDGEN:339812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564678 {source="MONDO:equivalentTo"}
xref: OMIM:606688 {source="MONDO:equivalentTo"}
xref: UMLS:C1847650 {source="MEDGEN:339812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564678/inferred", source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005429 {source="MESH:C564678", source="MONDO:Redundant"} ! prion disease
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 {source="MONDO:mim2gene_medgen"} ! PRNP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0011704
name: obsolete glaucoma 1, open angle, B
synonym: "glaucoma 1, open angle, B" EXACT [MONDO:Lexical, OMIM:606689]
synonym: "glaucoma 1B, primary open angle, adult onset" EXACT [OMIM:606689, OMIM:genemap2]
synonym: "GLC1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606689]
xref: OMIM:606689 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011705
name: lymphangioleiomyomatosis
def: "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." [NCIT:C3725]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LAM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606690, Orphanet:538]
synonym: "lung lymphangioleiomyomatosis" NARROW [DOID:3319]
synonym: "lymphangio-myomatosis" RELATED [GARD:0003319]
synonym: "lymphangioleiomyomatosis" EXACT [MONDO:Lexical, NCIT:C3725, OMIM:606690]
synonym: "lymphangioleiomyomatosis, somatic" EXACT [OMIM:606690, OMIM:genemap2]
synonym: "lymphangiomyomatosis" EXACT [DOID:3319, NCIT:C3725, OMIM:606690]
synonym: "pulmonary lymphangioleiomyomatosis" NARROW [DOID:3319]
xref: ICD10CM:J84.81 {source="MONDO:equivalentTo"}
xref: ICDO:9174/1 {source="NCIT:C3725"}
xref: MEDGEN:148366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018192 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:1200430 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3725 {source="MONDO:equivalentTo"}
xref: NCIT:C38153 {source="DOID:3319"}
xref: OMIM:606690 {source="MONDO:equivalentTo"}
xref: UMLS:C0751674 {source="MEDGEN:148366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006359 {source="NCIT:C3725"} ! neoplasm with perivascular epithelioid cell differentiation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4016" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis" xsd:anyURI {source="GARD:0003319"}

[Term]
id: MONDO:0011706
name: Kufor-Rakeb syndrome
def: "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." [Orphanet:306674]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9174", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1959", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306674"}
subset: orphanet_rare {source="Orphanet:306674"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive juvenile onset Parkinson disease 9" EXACT [DOID:0060556]
synonym: "autosomal recessive Parkinson disease 9" EXACT [DOID:0060556]
synonym: "ceroid lipofuscinosis, neuronal, 12" RELATED [OMIM:606693]
synonym: "KRPPD" RELATED ABBREVIATION [GARD:0009174]
synonym: "KRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606693]
synonym: "Kufor Rakeb Syndrome" EXACT [NORD:1959]
synonym: "Kufor-Rakeb syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606693]
synonym: "Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia" RELATED [OMIM:606693]
synonym: "Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia" RELATED [GARD:0009174]
synonym: "park 9" RELATED [GARD:0009174]
synonym: "PARK9" EXACT ABBREVIATION [Orphanet:306674]
synonym: "Parkinson disease 9, autosomal recessive" RELATED [OMIM:606693]
synonym: "Parkinson disease 9, autosomal recessive, juvenile-onset" RELATED [OMIM:606693]
synonym: "Parkinson disease type 9" RELATED [GARD:0009174]
xref: DOID:0060556 {source="MONDO:equivalentTo"}
xref: GARD:9174 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:306674/attributed", source="Orphanet:306674/ntbt", source="Orphanet:306674"}
xref: MEDGEN:338281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537177 {source="DOID:0060556", source="MONDO:equivalentTo"}
xref: NORD:1959 {source="MONDO:NORD"}
xref: OMIM:606693 {source="Orphanet:306674/e", source="DOID:0060556", source="MONDO:equivalentTo", source="Orphanet:306674"}
xref: Orphanet:306674 {source="DOID:0060556", source="MONDO:equivalentTo", source="OMIM:606693"}
xref: Orphanet:314632 {source="OMIM:606693"}
xref: UMLS:C1847640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338281"}
is_a: MONDO:0000828 {source="DOID:0060556"} ! juvenile-onset Parkinson disease
is_a: MONDO:0005180 {source="DOID:0060556/inferred", source="MONDO:Redundant", source="OMIM:606693"} ! Parkinson disease
is_a: MONDO:0018307 {source="Orphanet:306674"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30213 {source="MONDO:mim2gene_medgen"} ! ATP13A2

[Term]
id: MONDO:0011707
name: obsolete familial dyskinesia and facial myokymia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800028

[Term]
id: MONDO:0011708
name: autosomal dominant nonsyndromic hearing loss 36
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18115", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 36" NARROW [DOID:0110563]
synonym: "autosomal dominant nonsyndromic deafness 36" NARROW [OMIM:606705]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 36" NARROW [DOID:0110563, MONDORULE:2]
synonym: "deafness, autosomal dominant 36" NARROW [MONDO:Lexical, OMIM:606705, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 36" NARROW [MONDORULE:2, OMIM:606705]
synonym: "DFNA36" NARROW ABBREVIATION [DOID:0110563, MONDO:Lexical, OMIM:606705]
synonym: "TMC1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110563 {source="MONDO:equivalentTo"}
xref: GARD:18115 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110563"}
xref: MEDGEN:376173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564675 {source="MONDO:equivalentTo"}
xref: OMIM:606705 {source="MONDO:equivalentTo", source="DOID:0110563"}
xref: UMLS:C1847626 {source="MEDGEN:376173", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:606705", source="DOID:0110563", source="MONDO:Redundant", source="OMIM:606705"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16513 ! TMC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16513 {source="MONDO:mim2gene_medgen"} ! TMC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011709
name: split hand-foot malformation 5
def: "Split-hand/foot malformation mapped to chromosome 2q31." [NCIT:C75002]
subset: gard_rare {source="GARD:15398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SHFM5" EXACT ABBREVIATION [DOID:0090022, MONDO:Lexical, OMIM:606708]
synonym: "split hand-foot malformation type 5" EXACT [DOID:0090022, MONDORULE:1]
synonym: "split-hand/foot malformation 5" RELATED [MONDO:Lexical, OMIM:606708]
synonym: "split-hand/foot malformation type 5" EXACT [NCIT:C75002]
xref: DOID:0090022 {source="MONDO:equivalentTo"}
xref: GARD:15398 {source="MONDO:GARD"}
xref: ICD10CM:Q71.6 {source="DOID:0090022"}
xref: MEDGEN:338277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564674 {source="MONDO:equivalentTo"}
xref: NCIT:C75002 {source="MONDO:equivalentTo"}
xref: OMIM:606708 {source="DOID:0090022", source="MONDO:equivalentTo"}
xref: Orphanet:2440 {source="DOID:0090022", source="OMIM:606708"}
xref: UMLS:C1847622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338277"}
is_a: MONDO:0016576 {source="DOID:0090022", source="NCIT:C75002", source="OMIM:606708"} ! split hand-foot malformation

[Term]
id: MONDO:0011710
name: specific language impairment 1
synonym: "SLI1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606711]
synonym: "specific language impairment 1" EXACT [OMIM:606711]
synonym: "specific language impairment QTL, 1" EXACT [OMIM:606711, OMIM:genemap2]
synonym: "specific language impairment quantitative trait locus on chromosome 16" RELATED [OMIM:606711]
xref: MEDGEN:339804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606711 {source="MONDO:equivalentTo"}
xref: UMLS:C1847614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339804"}
is_a: MONDO:0000724 {source="DC-OMIM:606711", source="OMIM:606711"} ! specific language impairment
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011711
name: specific language impairment 2
synonym: "SLI2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606712]
synonym: "specific language impairment 2" EXACT [OMIM:606712]
synonym: "specific language impairment QTL, 2" EXACT [OMIM:606712, OMIM:genemap2]
synonym: "specific language impairment quantitative trait locus on chromosome 19" RELATED [OMIM:606712]
xref: MEDGEN:338273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606712 {source="MONDO:equivalentTo"}
xref: UMLS:C1847605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338273"}
is_a: MONDO:0000724 {source="DC-OMIM:606712", source="OMIM:606712"} ! specific language impairment
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011712
name: van der Woude syndrome 2
def: "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:7846", source="MONDO:GARD"}
subset: rare
synonym: "GRHL3 van der Woude syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "VAN DER Woude syndrome 2" RELATED [OMIM:606713]
synonym: "van der Woude syndrome 2" EXACT [MONDO:Lexical, OMIM:606713]
synonym: "van der Woude syndrome caused by mutation in GRHL3" EXACT [MONDO:design_pattern]
synonym: "Van Der Woude syndrome type 2" EXACT [MONDORULE:1, OMIM:606713]
synonym: "VWS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606713]
xref: GARD:7846 {source="MONDO:GARD"}
xref: MEDGEN:338272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536529 {source="MONDO:equivalentTo"}
xref: OMIM:606713 {source="MONDO:equivalentTo"}
xref: Orphanet:888 {source="OMIM:606713"}
xref: UMLS:C1847604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338272"}
is_a: MONDO:0019508 {source="DC-OMIM:606713", source="MONDO:Redundant"} ! van der Woude syndrome
intersection_of: MONDO:0019508 ! van der Woude syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25839 ! GRHL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25839 {source="MONDO:mim2gene_medgen"} ! GRHL3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2" xsd:anyURI {source="GARD:0007846"}

[Term]
id: MONDO:0011713
name: melanoma-pancreatic cancer syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18473", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome" RELATED [OMIM:606719]
synonym: "melanoma-pancreatic cancer syndrome" EXACT CLINGEN_LABEL [OMIM:606719]
xref: GARD:18473 {source="MONDO:GARD"}
xref: MEDGEN:325450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563985 {source="MONDO:equivalentTo"}
xref: NCIT:C176904 {source="MONDO:equivalentTo"}
xref: OMIM:606719 {source="MONDO:equivalentTo"}
xref: Orphanet:404560 {source="OMIM:606719"}
xref: UMLS:C1838547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325450"}
is_a: MONDO:0018453 {source="Orphanet:404560/btnt"} ! familial atypical multiple mole melanoma syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 {source="MONDO:mim2gene_medgen"} ! CDKN2A

[Term]
id: MONDO:0011714
name: partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
subset: gard_rare {source="GARD:18038", source="MONDO:GARD"}
subset: rare
synonym: "LCCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606721]
synonym: "lipodystrophy, familial partial, type 7" EXACT [OMIM:606721, OMIM:genemap2]
synonym: "lipodystrophy, partial, with congenital cataracts and neurodegeneration" RELATED [OMIM:606721]
synonym: "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" EXACT [MONDO:Lexical, OMIM:606721]
xref: GARD:18038 {source="MONDO:GARD"}
xref: MEDGEN:813897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606721 {source="MONDO:equivalentTo"}
xref: UMLS:C3807567 {source="MEDGEN:813897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 {source="MONDO:mim2gene_medgen"} ! CAV1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011715
name: Seckel syndrome 2
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15399", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microcephalic primordial dwarfism 2" EXACT [DOID:0070013]
synonym: "RBBP8 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL2" EXACT ABBREVIATION [DOID:0070013, MONDO:Lexical, OMIM:606744]
synonym: "Seckel syndrome 2" EXACT [MONDO:Lexical, OMIM:606744]
synonym: "Seckel syndrome caused by mutation in RBBP8" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 2" EXACT [MONDORULE:1, OMIM:606744]
synonym: "Seckel-type dwarfism 2" EXACT [DOID:0070013, OMIM:606744]
xref: DOID:0070013 {source="MONDO:equivalentTo"}
xref: GARD:15399 {source="MONDO:GARD"}
xref: MEDGEN:338264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537534 {source="MONDO:equivalentTo"}
xref: OMIM:606744 {source="DOID:0070013", source="MONDO:equivalentTo"}
xref: Orphanet:808 {source="OMIM:606744"}
xref: UMLS:C1847572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338264"}
is_a: MONDO:0019342 {source="DC-OMIM:606744", source="DOID:0070013", source="MONDO:Redundant", source="OMIM:606744"} ! Seckel syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9891 ! RBBP8
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606744"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9891 {source="MONDO:mim2gene_medgen"} ! RBBP8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011716
name: acute hemorrhagic leukoencephalitis
def: "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL." [https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis]
subset: gard_rare {source="GARD:8629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [DOID:10992]
synonym: "acute hemorrhagic encephalomyelitis" EXACT [DOID:10992]
synonym: "acute hemorrhagic leukoencephalitis" EXACT [OMIM:606752]
synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT [DOID:10992]
synonym: "AHL" EXACT ABBREVIATION [DOID:10992, OMIM:606752]
synonym: "Ahl" RELATED [OMIM:606752]
synonym: "AHLE" RELATED ABBREVIATION [GARD:0008629]
synonym: "Weston-Hurst syndrome" EXACT [DOID:10992]
xref: DOID:10992 {source="MONDO:equivalentTo", source="EFO:0007132"}
xref: EFO:0007132 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8629 {source="MONDO:GARD"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004684 {source="MONDO:equivalentTo", source="EFO:0007132", source="DOID:10992"}
xref: NCIT:C84535 {source="MONDO:equivalentTo", source="DOID:10992"}
xref: OMIM:606752 {source="MONDO:equivalentTo", source="DOID:10992"}
xref: SCTID:72986009 {source="MONDO:equivalentTo", source="DOID:10992"}
xref: UMLS:C0014077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4937"}
is_a: MONDO:0003337 {source="NCIT:C84535"} ! acute hemorrhagic encephalitis
is_a: MONDO:0019383 {source="DOID:10992", source="MESH:D004684"} ! acute disseminated encephalomyelitis
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis" xsd:anyURI {source="GARD:0008629"}

[Term]
id: MONDO:0011717
name: hyperinsulinism-hyperammonemia syndrome
def: "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." [Orphanet:35878]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9931", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35878"}
subset: orphanet_rare {source="Orphanet:35878"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GDH hyperinsulinism" EXACT [NCIT:C131832]
synonym: "GLUD1 hyperinsulinism" EXACT [NCIT:C131832]
synonym: "glutamate dehydrogenase 1 hyperinsulinism" EXACT [NCIT:C131832]
synonym: "HA/hi syndrome" RELATED [GARD:0009931]
synonym: "HHF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606762]
synonym: "hi/HA syndrome" EXACT [Orphanet:35878]
synonym: "hyperinsulinemic hypoglycemia familial 6" RELATED [GARD:0009931]
synonym: "hyperinsulinemic hypoglycemia, familial, 6" RELATED [MONDO:Lexical, OMIM:606762]
synonym: "hyperinsulinemic hypoglycemia, familial, type 6" EXACT [MONDORULE:1, OMIM:606762]
synonym: "hyperinsulinism hyperammonemia syndrome" RELATED [GARD:0009931]
synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT CLINGEN_LABEL [OMIM:606762]
synonym: "hyperinsulinism/hyperammonemia syndrome" EXACT [NCIT:C131832]
xref: DOID:0070217 {source="MONDO:equivalentTo"}
xref: GARD:9931 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:35878", source="Orphanet:35878/attributed", source="Orphanet:35878/ntbt"}
xref: MEDGEN:376153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538375 {source="MONDO:equivalentTo"}
xref: NCIT:C131832 {source="MONDO:equivalentTo"}
xref: OMIM:606762 {source="Orphanet:35878", source="MONDO:equivalentTo", source="Orphanet:35878/e"}
xref: Orphanet:35878 {source="MONDO:equivalentTo", source="OMIM:606762"}
xref: UMLS:C1847555 {source="MEDGEN:376153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001933 {source="NCIT:C131832"} ! endocrine pancreas disorder
is_a: MONDO:0004739 {source="Orphanet:35878"} ! urea cycle disorder
is_a: MONDO:0005803 {source="DC-OMIM:606762"} ! hyperinsulinemic hypoglycemia
is_a: MONDO:0015624 {source="Orphanet:35878"} ! diazoxide-sensitive diffuse hyperinsulinism
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4335 {source="MONDO:mim2gene_medgen"} ! GLUD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome" xsd:anyURI {source="GARD:0009931"}

[Term]
id: MONDO:0011718
name: primary ciliary dyskinesia 2
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD2" EXACT ABBREVIATION [DOID:0110626, MONDO:Lexical, OMIM:606763]
synonym: "ciliary dyskinesia, primary, 2" RELATED [MONDO:Lexical, OMIM:606763]
synonym: "ciliary dyskinesia, primary, 2, with or without situs inversus" RELATED [OMIM:606763]
synonym: "ciliary dyskinesia, primary, type 2" EXACT [MONDORULE:1, OMIM:606763]
synonym: "DNAAF3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 2 with or without situs inversus" EXACT [DOID:0110626]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF3" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 2" EXACT [DOID:0110626, MONDORULE:1]
xref: DOID:0110626 {source="MONDO:equivalentTo"}
xref: GARD:15400 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110626"}
xref: MEDGEN:338258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535277 {source="MONDO:equivalentTo"}
xref: OMIM:606763 {source="DOID:0110626", source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:606763"}
xref: UMLS:C1847554 {source="MEDGEN:338258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:606763", source="DOID:0110626", source="MESH:C535277", source="MESH:C535277/inferred", source="MONDO:Redundant", source="OMIM:606763"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30492 ! DNAAF3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30492 {source="MONDO:mim2gene_medgen"} ! DNAAF3

[Term]
id: MONDO:0011719
name: gastrointestinal stromal tumor
def: "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1." [Orphanet:44890]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8598", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1174", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:44890"}
subset: orphanet_rare {source="Orphanet:44890"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gant" EXACT [DOID:9253, NCIT:C27940]
synonym: "gastrointestinal stromal neoplasm" EXACT [NCIT:C3868]
synonym: "gastrointestinal stromal sarcoma" EXACT [Orphanet:44890]
synonym: "gastrointestinal stromal tumor" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606764]
synonym: "gastrointestinal stromal tumor (gist)" EXACT [NCIT:C3868]
synonym: "gastrointestinal stromal tumor, familial, isolated cases" EXACT [OMIM:606764, OMIM:genemap2]
synonym: "gastrointestinal stromal tumor, isolated cases" EXACT [OMIM:606764, OMIM:genemap2]
synonym: "Gastrointestinal Stromal Tumors" EXACT [NORD:1174]
synonym: "gastrointestinal stromal tumors" RELATED [GARD:0008598]
synonym: "gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 []
synonym: "gastrointestinal stromal tumours" RELATED OMO:0003005 []
synonym: "gist" EXACT [DOID:9253, MONDO:Lexical, OMIM:606764, Orphanet:44890]
synonym: "stromal tumor of gastrointestinal tract" EXACT [DOID:9253, NCIT:C3868]
synonym: "stromal tumour of gastrointestinal tract" EXACT OMO:0003005 []
xref: DOID:9253 {source="MONDO:equivalentTo"}
xref: GARD:8598 {source="MONDO:GARD"}
xref: ICD10CM:C26.9 {source="Orphanet:44890", source="Orphanet:44890/attributed", source="Orphanet:44890/ntbt"}
xref: ICDO:8936/1 {source="NCIT:C3868"}
xref: MedDRA:10051066 {source="Orphanet:44890/e", source="Orphanet:44890"}
xref: MEDGEN:116049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046152 {source="Orphanet:44890/e", source="MONDO:equivalentTo", source="Orphanet:44890", source="DOID:9253"}
xref: NCIT:C3868 {source="MONDO:equivalentTo", source="DOID:9253"}
xref: NORD:1174 {source="MONDO:NORD"}
xref: OMIM:606764 {source="Orphanet:44890/e", source="MONDO:equivalentTo", source="Orphanet:44890", source="DOID:9253"}
xref: ONCOTREE:GIST {source="MONDO:equivalentTo"}
xref: Orphanet:44890 {source="OMIM:606764", source="MONDO:equivalentTo"}
xref: SCTID:128755003 {source="DOID:9253"}
xref: SCTID:420120006 {source="MONDO:equivalentTo", source="DOID:9253"}
xref: UMLS:C0238198 {source="MEDGEN:116049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018506 {source="Orphanet:44890"} ! mesenchymal tumor of small intestine
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011720
name: spermatogenic failure 3
def: "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18399", source="MONDO:GARD"}
subset: rare
synonym: "azoospermia caused by mutation in SLC26A8" EXACT [MONDO:design_pattern]
synonym: "SLC26A8 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 3" EXACT [MONDO:Lexical, OMIM:606766]
synonym: "spermatogenic failure type 3" EXACT [MONDORULE:1, OMIM:606766]
synonym: "SPGF3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606766]
xref: DOID:0070168 {source="MONDO:equivalentTo"}
xref: GARD:18399 {source="MONDO:GARD"}
xref: MEDGEN:1648302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564665 {source="MONDO:equivalentTo"}
xref: OMIM:606766 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:606766"}
xref: UMLS:C4721889 {source="MEDGEN:1648302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:606766", source="MESH:C564665", source="MONDO:Redundant", source="OMIM:606766"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14468 ! SLC26A8
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14468 ! SLC26A8
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14468 {source="MONDO:mim2gene_medgen"} ! SLC26A8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14468 {source="MONDO:mim2gene_medgen"} ! SLC26A8

[Term]
id: MONDO:0011721
name: distal myopathy with anterior tibial onset
subset: gard_rare {source="GARD:17080", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178400"}
subset: orphanet_rare {source="Orphanet:178400"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal anterior compartment myopathy" EXACT [Orphanet:178400]
synonym: "DMAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606768]
synonym: "myopathy, distal, with anterior tibial onset" RELATED [MONDO:Lexical, OMIM:606768]
xref: DOID:0111187 {source="MONDO:equivalentTo"}
xref: GARD:17080 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:178400/attributed", source="Orphanet:178400/ntbt", source="Orphanet:178400"}
xref: MEDGEN:335706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564664 {source="MONDO:equivalentTo"}
xref: OMIM:606768 {source="Orphanet:178400", source="MONDO:equivalentTo", source="Orphanet:178400/e"}
xref: Orphanet:178400 {source="OMIM:606768", source="MONDO:equivalentTo"}
xref: UMLS:C1847532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335706"}
is_a: MONDO:0016145 {source="Orphanet:178400"} ! qualitative or quantitative defects of dysferlin
is_a: MONDO:0018949 {source="DC-OMIM:606768", source="MONDO:Redundant", source="Orphanet:178400/inferred"} ! distal myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="MONDO:mim2gene_medgen"} ! DYSF

[Term]
id: MONDO:0011722
name: intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
subset: gard_rare {source="GARD:17648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397973"}
subset: orphanet_rare {source="Orphanet:397973"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies" RELATED [OMIM:606772]
synonym: "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" RELATED DEPRECATED [OMIM:606772]
synonym: "MOMES syndrome" EXACT [Orphanet:397973]
synonym: "Momes syndrome" RELATED [OMIM:606772]
xref: GARD:17648 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:397973", source="Orphanet:397973/attributed", source="Orphanet:397973/ntbt"}
xref: MEDGEN:376145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564660 {source="MONDO:equivalentTo"}
xref: OMIM:606772 {source="MONDO:equivalentTo", source="Orphanet:397973", source="Orphanet:397973/e"}
xref: Orphanet:397973 {source="MONDO:equivalentTo", source="OMIM:606772"}
xref: UMLS:C1847522 {source="MEDGEN:376145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:397973"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397973", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0011723
name: hemifacial myohyperplasia
def: "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities." [https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia]
subset: gard_rare {source="GARD:10084", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141148"}
subset: ordo_malformation_syndrome {source="Orphanet:141148"}
subset: orphanet_rare {source="Orphanet:141148"}
subset: rare
synonym: "hemifacial myohyperplasia" EXACT [MONDO:Lexical, OMIM:606773]
synonym: "HMH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606773]
synonym: "hypertrophy and asymmetry of the facial muscles" RELATED [GARD:0010084]
xref: GARD:10084 {source="MONDO:GARD"}
xref: ICD10CM:Q67.4 {source="Orphanet:141148", source="Orphanet:141148/ntbt"}
xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:339781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535862 {source="MONDO:equivalentTo", source="Orphanet:141148", source="Orphanet:141148/e"}
xref: OMIM:606773 {source="MONDO:equivalentTo", source="Orphanet:141148", source="Orphanet:141148/e"}
xref: Orphanet:141148 {source="MONDO:equivalentTo", source="OMIM:606773"}
xref: SCTID:699420006 {source="MONDO:equivalentTo"}
xref: UMLS:C1847521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339781"}
is_a: MONDO:0019716 {source="Orphanet:141148"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0015496 {source="Orphanet:141148", source="https://orcid.org/0000-0001-5208-3432"} ! macroglossia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia" xsd:anyURI {source="GARD:0010084"}

[Term]
id: MONDO:0011724
name: encephalopathy due to GLUT1 deficiency
def: "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." [Orphanet:71277]
subset: gard_rare {source="GARD:9265", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1188"}
subset: ordo_disorder {source="Orphanet:71277"}
subset: orphanet_rare {source="Orphanet:71277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "De Vivo disease" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277]
synonym: "encephalopathy due to GLUT1 deficiency" EXACT [GARD:0009265, MESH:C536830]
synonym: "G1D" RELATED ABBREVIATION [GARD:0009265]
synonym: "glucose Transport defect, blood-brain barrier" RELATED [OMIM:606777]
synonym: "glucose transport defect, blood-brain barrier" RELATED [GARD:0009265, MESH:C536830]
synonym: "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included" RELATED [MESH:C536830]
synonym: "glucose transporter Protein syndrome" RELATED [MESH:C536830]
synonym: "glucose transporter protein syndrome" RELATED [GARD:0009265]
synonym: "glucose transporter type 1 deficiency" EXACT [Orphanet:71277]
synonym: "Glucose Transporter Type 1 Deficiency Syndrome" EXACT [NORD:1188]
synonym: "glucose transporter type 1 deficiency syndrome" RELATED [MESH:C536830]
synonym: "glucose transporter type1 (glut-1) deficiency" RELATED [MESH:C536830]
synonym: "glut-1 deficiency syndrome" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277]
synonym: "GLUT1 deficiency syndrome" RELATED [GARD:0009265]
synonym: "GLUT1 deficiency syndrome 1" RELATED [MESH:C536830, MONDO:Lexical, OMIM:606777]
synonym: "GLUT1 deficiency syndrome 1, autosomal recessive" RELATED [OMIM:606777]
synonym: "GLUT1 deficiency syndrome 1, infantile onset, severe" EXACT [OMIM:606777, OMIM:genemap2]
synonym: "GLUT1 deficiency syndrome type 1" EXACT [MONDORULE:1, OMIM:606777]
synonym: "GLUT1 DS" RELATED [GARD:0009265]
synonym: "GLUT1-DS" EXACT [Orphanet:71277]
synonym: "GLUT1DS1" RELATED ABBREVIATION [MESH:C536830, MONDO:Lexical, OMIM:606777]
xref: GARD:9265 {source="MONDO:GARD"}
xref: ICD10CM:G93.4 {source="Orphanet:71277/attributed", source="Orphanet:71277/ntbt", source="Orphanet:71277"}
xref: MEDGEN:1645412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536830 {source="MONDO:equivalentTo"}
xref: NANDO:1200799 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200545 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1188 {source="MONDO:NORD"}
xref: OMIM:606777 {source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265", source="Orphanet:71277/e"}
xref: Orphanet:71277 {source="OMIM:606777", source="MONDO:equivalentTo", source="GARD:0009265"}
xref: UMLS:C4551966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645412"}
is_a: MONDO:0000188 {source="DC-OMIM:606777", source="OMIM:606777"} ! GLUT1 deficiency syndrome
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0019214 {source="MESH:C536830", source="MONDO:Redundant", source="Orphanet:71277/inferred"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0019226 {source="Orphanet:71277"} ! glucose transport disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome" xsd:anyURI {source="GARD:0009265"}

[Term]
id: MONDO:0011725
name: Crigler-Najjar syndrome type 2
def: "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1." [Orphanet:79235]
subset: gard_rare {source="GARD:8683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79235"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arias syndrome" EXACT [Orphanet:79235]
synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2" EXACT [Orphanet:79235]
synonym: "bilirubin-UGT deficiency type 2" EXACT [Orphanet:79235]
synonym: "Crigler Najjar syndrome, type 2" RELATED [GARD:0008683]
synonym: "Crigler-Najjar syndrome, type 2" RELATED [OMIM:606785]
synonym: "Crigler-Najjar syndrome, type II" RELATED [OMIM:606785]
synonym: "hereditary unconjugated hyperbilirubinemia type 2" EXACT [Orphanet:79235]
synonym: "hyperbilirubinemia, Crigler-Najjar type 2" RELATED [OMIM:606785]
synonym: "UGT deficiency type 2" EXACT [Orphanet:79235]
xref: GARD:8683 {source="MONDO:GARD"}
xref: ICD10CM:E80.5 {source="Orphanet:79235/attributed", source="Orphanet:79235/ntbt", source="Orphanet:79235"}
xref: MedDRA:10011387 {source="Orphanet:79235/e", source="Orphanet:79235"}
xref: MEDGEN:419718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536213 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"}
xref: OMIM:606785 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"}
xref: Orphanet:205 {source="OMIM:606785"}
xref: Orphanet:79235 {source="MONDO:equivalentTo", source="OMIM:606785"}
xref: SCTID:68067009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931132 {source="MEDGEN:419718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002408 {source="MESH:C536213/inferred", source="MONDO:0011725/inferred", source="MONDO:Redundant", source="OMIM:606785"} ! hereditary hyperbilirubinemia
is_a: MONDO:0009044 {source="MESH:C536213", source="Orphanet:79235"} ! Crigler-Najjar syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12530 {source="MONDO:mim2gene_medgen"} ! UGT1A1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2" xsd:anyURI {source="GARD:0008683"}

[Term]
id: MONDO:0011726
name: peripheral arterial occlusive disease 1
synonym: "Paod1" RELATED [OMIM:606787]
synonym: "peripheral arterial occlusive disease 1" EXACT [OMIM:606787]
synonym: "peripheral arterial occlusive disease type 1" EXACT [MONDORULE:1, OMIM:606787]
xref: MEDGEN:376140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564658 {source="MONDO:equivalentTo"}
xref: OMIM:606787 {source="MONDO:equivalentTo"}
xref: UMLS:C1847493 {source="MEDGEN:376140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011727
name: anorexia nervosa, susceptibility to, 1
subset: predisposition
synonym: "AN" RELATED ABBREVIATION [OMIM:606788]
synonym: "anon" RELATED [OMIM:606788]
synonym: "ANON1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606788]
synonym: "anorexia nervosa, susceptibility to" RELATED [OMIM:606788]
synonym: "anorexia nervosa, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:606788]
xref: MEDGEN:376139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606788 {source="MONDO:equivalentTo"}
xref: UMLS:C1847492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376139"}
is_a: MONDO:0020573 {source="OMIM:606788", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5293 ! HTR2A
intersection_of: predisposes_towards MONDO:0005351 ! anorexia nervosa
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5293 {source="MONDO:mim2gene_medgen"} ! HTR2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011728
name: benign essential blepharospasm
def: "Involuntary twitching of the eyelid." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "BEB" RELATED ABBREVIATION [GARD:0005909]
synonym: "benign essential blepharospasm" EXACT [GARD:0005909]
synonym: "blepharospasm" EXACT [NCIT:C118723]
synonym: "blepharospasm, benign essential" RELATED [OMIM:606798]
xref: DOID:529 {source="MONDO:equivalentTo"}
xref: ICD10CM:G24.5 {source="DOID:529", source="MONDO:equivalentTo"}
xref: ICD9:333.81 {source="DOID:529", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:419660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001764 {source="DOID:529", source="MONDO:equivalentTo"}
xref: NCIT:C118723 {source="DOID:529", source="MONDO:otherHierarchy"}
xref: OMIM:606798 {source="MONDO:relatedTo"}
xref: SCTID:155009007 {source="DOID:529"}
xref: SCTID:267690000 {source="DOID:529"}
xref: SCTID:59026006 {source="DOID:529", source="MONDO:equivalentTo"}
xref: UMLS:C2930898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419660"}
is_a: MONDO:0000477 {source="DOID:529", source="Wikipedia:Dystonia"} ! focal dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6932" xsd:anyURI

[Term]
id: MONDO:0011729
name: stroke, susceptibility to, 1
subset: predisposition
synonym: "Strk1" RELATED [OMIM:606799]
synonym: "stroke, susceptibility to, 1" EXACT [OMIM:606799]
synonym: "stroke, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606799]
xref: MEDGEN:335696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606799 {source="MONDO:equivalentTo"}
xref: UMLS:C1847482 {source="MEDGEN:335696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:606799", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8783 {source="MONDO:mim2gene_medgen"} ! PDE4D
relationship: predisposes_towards MONDO:0005098 {source="OMIM:606799"} ! stroke disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011730
name: fumaric aciduria
def: "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." [Orphanet:24]
subset: gard_rare {source="GARD:6476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:24"}
subset: orphanet_rare {source="Orphanet:24"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FMRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606812]
synonym: "fumarase deficiency" EXACT [MONDO:Lexical, OMIM:606812, Orphanet:24]
synonym: "fumarate hydratase deficiency" RELATED [GARD:0006476]
synonym: "fumaric aciduria" EXACT [OMIM:606812]
xref: DOID:0111261 {source="MONDO:equivalentTo"}
xref: GARD:6476 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:24/attributed", source="Orphanet:24/ntbt", source="Orphanet:24"}
xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538191 {source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"}
xref: NANDO:2200520 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:606812 {source="Orphanet:24", source="MONDO:equivalentTo", source="Orphanet:24/e"}
xref: Orphanet:24 {source="OMIM:606812", source="MONDO:equivalentTo"}
xref: SCTID:237983002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342770 {source="MEDGEN:87458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016790 {source="Orphanet:24"} ! tricarboxylic acid cycle disorder
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3700 {source="MONDO:mim2gene_medgen"} ! FH

[Term]
id: MONDO:0011731
name: glucose-galactose malabsorption
def: "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." [Orphanet:35710]
subset: gard_rare {source="GARD:6521", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1190"}
subset: ordo_disorder {source="Orphanet:35710"}
subset: orphanet_rare {source="Orphanet:35710"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate intolerance of glucose galactose" RELATED [GARD:0006521]
synonym: "Complex carbohydrate intolerance" RELATED [GARD:0006521]
synonym: "GGM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606824]
synonym: "glucose galactose malabsorption deficiency" RELATED [GARD:0006521]
synonym: "glucose-galactose malabsorption" EXACT CLINGEN_LABEL []
synonym: "glucose/galactose malabsorption" RELATED [MONDO:Lexical, OMIM:606824]
synonym: "monosaccharide malabsorption" RELATED [OMIM:606824]
synonym: "SGLT1 deficiency" EXACT [Orphanet:35710]
xref: GARD:6521 {source="MONDO:GARD"}
xref: ICD10CM:E74.3 {source="Orphanet:35710", source="Orphanet:35710/attributed", source="Orphanet:35710/ntbt"}
xref: icd11.foundation:2108415931 {source="Orphanet:35710", source="MONDO:equivalentTo"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10066388 {source="Orphanet:35710", source="Orphanet:35710/e"}
xref: MEDGEN:78647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562602 {source="MONDO:equivalentTo"}
xref: NANDO:2200909 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1190 {source="MONDO:NORD"}
xref: OMIM:606824 {source="Orphanet:35710", source="MONDO:equivalentTo", source="Orphanet:35710/e"}
xref: Orphanet:35710 {source="OMIM:606824", source="MONDO:equivalentTo"}
xref: SCTID:190749000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268186 {source="MEDGEN:78647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0005020 {source="https://orcid.org/0000-0002-3458-4839"} ! intestinal disorder
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0019226 {source="Orphanet:35710"} ! glucose transport disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11036 {source="MONDO:mim2gene_medgen"} ! SLC5A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption" xsd:anyURI {source="GARD:0006521"}

[Term]
id: MONDO:0011732
name: familial digital arthropathy-brachydactyly
def: "Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant." [Orphanet:85169]
subset: gard_rare {source="GARD:16735", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85169"}
subset: ordo_malformation_syndrome {source="Orphanet:85169"}
subset: orphanet_rare {source="Orphanet:85169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "digital arthropathy-brachydactyly, familial" RELATED [MONDO:Lexical, OMIM:606835]
synonym: "FDAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606835]
xref: GARD:16735 {source="MONDO:GARD"}
xref: ICD10CM:M06.8 {source="Orphanet:85169", source="Orphanet:85169/attributed", source="Orphanet:85169/ntbt"}
xref: MEDGEN:335678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564656 {source="MONDO:equivalentTo"}
xref: NCIT:C175208 {source="MONDO:equivalentTo"}
xref: OMIM:606835 {source="Orphanet:85169", source="MONDO:equivalentTo", source="Orphanet:85169/e"}
xref: Orphanet:85169 {source="OMIM:606835", source="MONDO:equivalentTo"}
xref: UMLS:C1847406 {source="MEDGEN:335678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018240 {source="Orphanet:85169", source="PMID:31633310"} ! TRPV4-related bone disorder
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011733
name: parasomnia, sleep bruxism type
synonym: "faciomandibular myoclonus, nocturnal" RELATED [OMIM:606840]
synonym: "nocturnal facio-mandibular myoclonus" RELATED [GARD:0010195]
synonym: "parasomnia, sleep bruxism type" EXACT [MONDO:Lexical, OMIM:606840]
synonym: "parasomnia, Sleeptalking type" RELATED [OMIM:606840]
synonym: "PSMNSB" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606840]
xref: MEDGEN:339751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536389 {source="MONDO:equivalentTo"}
xref: OMIM:606840 {source="MONDO:equivalentTo"}
xref: UMLS:C1847399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339751"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011734
name: Cardioneuromyopathy with hyaline masses and nemaline rods
synonym: "Cardioneuromyopathy with hyaline masses and nemaline rods" EXACT [OMIM:606842]
xref: MEDGEN:339747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564655 {source="MONDO:equivalentTo"}
xref: OMIM:606842 {source="MONDO:equivalentTo"}
xref: UMLS:C1847387 {source="MONDO:equivalentTo", source="MEDGEN:339747", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564655/inferred"} ! hereditary disease

[Term]
id: MONDO:0011735
name: hyper-IgM syndrome type 3
def: "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells." [Wikipedia:Hyper-IgM_syndrome_type_3]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101090"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD40 deficiency" RELATED [DOID:0060023]
synonym: "CD40 hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HIGM3" EXACT ABBREVIATION [GARD:0010579, MONDO:Lexical, OMIM:606843, Orphanet:101090]
synonym: "hyper IgM syndrome 3" RELATED [GARD:0010579]
synonym: "hyper-IgM syndrome 3" RELATED [OMIM:606843]
synonym: "hyper-IgM syndrome caused by mutation in CD40" EXACT [MONDO:design_pattern]
synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT [DOID:0060023, Orphanet:101090]
synonym: "immunodeficiency with hyper IgM type 3" RELATED [GARD:0010579]
synonym: "immunodeficiency with hyper-IgM type 3" EXACT [DOID:0060023]
synonym: "immunodeficiency with hyper-IgM, type 3" RELATED [MONDO:Lexical, OMIM:606843]
synonym: "type 3 hyper-IgM immunodeficiency" EXACT [DOID:0060023]
xref: DOID:0060023 {source="MONDO:equivalentTo"}
xref: GARD:10579 {source="MONDO:GARD"}
xref: ICD10CM:D80.5 {source="Orphanet:101090", source="Orphanet:101090/attributed", source="Orphanet:101090/ntbt"}
xref: MEDGEN:328419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606843 {source="DOID:0060023", source="MONDO:equivalentTo", source="Orphanet:101090", source="GARD:0010579", source="Orphanet:101090/e"}
xref: Orphanet:101090 {source="DOID:0060023", source="OMIM:606843", source="MONDO:equivalentTo", source="GARD:0010579"}
xref: Orphanet:183663 {source="OMIM:606843"}
xref: UMLS:C1720957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328419"}
is_a: MONDO:0003947 {source="MONDO:Redundant", source="OMIM:606843"} ! hyper-IgM syndrome
intersection_of: MONDO:0003947 ! hyper-IgM syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11919 ! CD40
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11919 {source="MONDO:mim2gene_medgen"} ! CD40
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3" xsd:anyURI {source="GARD:0010579"}

[Term]
id: MONDO:0011736
name: Cree intellectual disability syndrome
synonym: "Cree intellectual disability syndrome" EXACT [OMIM:606851]
synonym: "Cree mental retardation syndrome" EXACT DEPRECATED [OMIM:606851]
xref: MEDGEN:335673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564654 {source="MONDO:equivalentTo"}
xref: OMIM:606851 {source="MONDO:equivalentTo"}
xref: UMLS:C1847361 {source="MEDGEN:335673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011737
name: parkinson disease 10
subset: gard_rare {source="GARD:18607", source="MONDO:GARD"}
subset: rare
synonym: "PARK10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606852]
synonym: "Parkinson disease 10" RELATED [MONDO:Lexical, OMIM:606852]
synonym: "Parkinson disease, Age at onset of" RELATED [OMIM:606852]
xref: GARD:18607 {source="MONDO:GARD"}
xref: MEDGEN:339741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564653 {source="MONDO:equivalentTo"}
xref: OMIM:606852 {source="MONDO:equivalentTo"}
xref: Orphanet:2828 {source="OMIM:606852"}
xref: UMLS:C1847360 {source="MEDGEN:339741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="MESH:C564653", source="MONDO:Redundant", source="OMIM:606852"} ! Parkinson disease
is_a: MONDO:0017279 {source="Orphanet:2828/btnt"} ! young-onset Parkinson disease

[Term]
id: MONDO:0011738
name: bilateral frontoparietal polymicrogyria
def: "A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus." [https://www.clinicalgenome.org/affiliation/40020/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101070"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BFPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606854]
synonym: "bilateral frontoparietal polymicrogyria" EXACT CLINGEN_LABEL []
synonym: "cerebellar ataxia with neuronal migration defect" RELATED [OMIM:606854]
synonym: "polymicrogyria, bilateral frontoparietal" RELATED [MONDO:Lexical, OMIM:606854]
xref: DOID:0080922 {source="MONDO:equivalentTo"}
xref: GARD:10784 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:101070", source="Orphanet:101070/attributed", source="Orphanet:101070/ntbt"}
xref: MEDGEN:376107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564652 {source="MONDO:equivalentTo"}
xref: NCIT:C148367 {source="MONDO:equivalentTo"}
xref: OMIM:606854 {source="MONDO:equivalentTo", source="Orphanet:101070", source="Orphanet:101070/e"}
xref: Orphanet:101070 {source="OMIM:606854", source="MONDO:equivalentTo"}
xref: Orphanet:268940 {source="OMIM:606854"}
xref: UMLS:C1847352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376107"}
is_a: MONDO:0017091 {source="Orphanet:101070"} ! bilateral polymicrogyria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4512 {source="MONDO:mim2gene_medgen"} ! ADGRG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6756" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria" xsd:anyURI {source="GARD:0010784"}

[Term]
id: MONDO:0011739
name: pancreatic cancer, susceptibility to, 1
def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene." [MONDO:patterns/disease_series_by_gene]
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "familial pancreatic carcinoma caused by mutation in PALLD" EXACT [MONDO:design_pattern]
synonym: "PALLD familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pancreatic cancer, susceptibility to, 1" EXACT [OMIM:606856]
synonym: "pancreatic cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606856]
synonym: "Pnca1" RELATED [OMIM:606856]
synonym: "susceptibility to pancreatic cancer 1" RELATED [OMIM:606856]
xref: MEDGEN:339739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606856 {source="MONDO:equivalentTo"}
xref: Orphanet:1333 {source="OMIM:606856"}
xref: UMLS:C1847351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339739"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17068 ! PALLD
intersection_of: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17068 {source="MONDO:mim2gene_medgen", source="OMIM:606856"} ! PALLD

[Term]
id: MONDO:0011740
name: Carney-Stratakis syndrome
def: "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." [Orphanet:97286]
subset: gard_rare {source="GARD:10643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97286"}
subset: orphanet_rare {source="Orphanet:97286"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carney dyad" EXACT [Orphanet:97286]
synonym: "Carney-Stratakis dyad" EXACT [Orphanet:97286]
synonym: "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma" RELATED [GARD:0010643]
synonym: "Carney-Stratakis syndrome" EXACT [OMIM:606864]
synonym: "gist-paraganglioma dyad" EXACT [Orphanet:97286]
synonym: "paraganglioma and gastric stromal sarcoma" EXACT [OMIM:606864, Orphanet:97286]
synonym: "paraganglioma and gastrointestinal stromal tumor" RELATED [OMIM:606864]
synonym: "paraganglioma and gastrointestinal stromal tumour" RELATED OMO:0003005 []
synonym: "paraganglioma and gist" RELATED [GARD:0010643]
xref: DOID:0080533 {source="MONDO:equivalentTo"}
xref: GARD:10643 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="Orphanet:97286/attributed", source="Orphanet:97286/ntbt", source="Orphanet:97286"}
xref: MEDGEN:376098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564650 {source="MONDO:equivalentTo"}
xref: NCIT:C94831 {source="MONDO:equivalentTo"}
xref: OMIM:606864 {source="Orphanet:97286/e", source="MONDO:equivalentTo", source="Orphanet:97286"}
xref: Orphanet:97286 {source="OMIM:606864", source="MONDO:equivalentTo"}
xref: SCTID:722377004 {source="MONDO:equivalentTo"}
xref: UMLS:C1847319 {source="MEDGEN:376098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015079 {source="Orphanet:97286"} ! multiple polyglandular tumor
is_a: MONDO:0015356 {source="NCIT:C94831"} ! hereditary neoplastic syndrome

[Term]
id: MONDO:0011741
name: Hirschsprung disease, susceptibility to, 6
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:606874]
synonym: "HSCR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606874]
xref: MEDGEN:369600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606874 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:606874"}
xref: UMLS:C1969837 {source="MEDGEN:369600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011742
name: Hirschsprung disease, susceptibility to, 7
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:606875]
synonym: "HSCR7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606875]
xref: MEDGEN:370761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606875 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:606875"}
xref: UMLS:C1969836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370761"}
is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011743
name: Alzheimer disease 4
def: "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene." [NCIT:C123413]
subset: gard_rare {source="GARD:16511", source="MONDO:GARD"}
subset: rare
synonym: "AD4" EXACT ABBREVIATION [DOID:0110040]
synonym: "Ad4" RELATED [OMIM:606889]
synonym: "Alzheimer disease 4" EXACT [DOID:0110040, OMIM:606889]
synonym: "Alzheimer disease familial type 4" RELATED [GARD:0009469]
synonym: "Alzheimer disease type 4" EXACT [MONDORULE:1, OMIM:606889]
synonym: "Alzheimer disease, familial, 4" RELATED [OMIM:606889]
synonym: "Alzheimer disease, familial4" EXACT [DOID:0110040]
synonym: "Alzheimer disease-4" EXACT [OMIM:606889, OMIM:genemap2]
synonym: "Alzheimer's disease 4" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 4" EXACT [DOID:0110040, MONDORULE:1]
synonym: "familial Alzheimer disease, type 4" EXACT [NCIT:C123413]
synonym: "familial Alzheimer's disease, type 4" EXACT [NCIT:C123413]
xref: DOID:0110040 {source="MONDO:equivalentTo"}
xref: GARD:16511 {source="MONDO:GARD"}
xref: MEDGEN:376072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536596 {source="MONDO:equivalentTo"}
xref: NCIT:C123413 {source="MONDO:equivalentTo"}
xref: OMIM:606889 {source="DOID:0110040", source="MONDO:equivalentTo"}
xref: UMLS:C1847200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376072"}
is_a: MONDO:0004975 {source="DOID:0110040", source="MESH:C536596", source="NCIT:C123413"} ! Alzheimer disease
is_a: MONDO:0015140 {source="Orphanet:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011744
name: primary intraosseous venous malformation
def: "Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting." [Orphanet:140436]
subset: gard_rare {source="GARD:16961", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140436"}
subset: orphanet_rare {source="Orphanet:140436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemangioma, intraosseous" RELATED [OMIM:606893]
synonym: "intraosseous hemangioma" EXACT [Orphanet:140436]
synonym: "osseous venous malformation" EXACT [Orphanet:140436]
synonym: "vascular malformation osseous" RELATED [OMIM:606893]
synonym: "vascular malformation, primary intraosseous" RELATED [OMIM:606893]
xref: GARD:16961 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:140436/attributed", source="Orphanet:140436/ntbt", source="Orphanet:140436"}
xref: MEDGEN:376071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564648 {source="MONDO:equivalentTo"}
xref: OMIM:606893 {source="Orphanet:140436/e", source="MONDO:equivalentTo", source="Orphanet:140436"}
xref: Orphanet:140436 {source="MONDO:equivalentTo", source="OMIM:606893"}
xref: SCTID:764100007 {source="MONDO:equivalentTo"}
xref: UMLS:C1847197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376071"}
is_a: MONDO:0016223 {source="Orphanet:140436"} ! infantile hemangioma of rare localization
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17233 {source="MONDO:mim2gene_medgen"} ! ELMO2

[Term]
id: MONDO:0011745
name: duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery
synonym: "duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery" RELATED [GARD:0009227]
synonym: "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery" EXACT [OMIM:606894]
xref: MEDGEN:339705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535722 {source="MONDO:equivalentTo"}
xref: OMIM:606894 {source="MONDO:equivalentTo"}
xref: UMLS:C1847196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339705"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9227/duodenojejunal-atresia-with-volvulus-absent-dorsal-mesentery-and-absent-superior-mesenteric-artery" xsd:anyURI {source="GARD:0009227"}

[Term]
id: MONDO:0011746
name: symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
synonym: "distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch" RELATED [GARD:0008554]
synonym: "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" EXACT [OMIM:606895]
xref: MEDGEN:376067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538148 {source="MONDO:equivalentTo"}
xref: OMIM:606895 {source="MONDO:equivalentTo"}
xref: UMLS:C1847185 {source="MEDGEN:376067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8554/symphalangism-distal-with-microdontia-dental-pulp-stones-and-narrowed-zygomatic-arch" xsd:anyURI {source="GARD:0008554"}

[Term]
id: MONDO:0011747
name: dyslexia, susceptibility to, 5
subset: predisposition
synonym: "dyslexia, susceptibility to, 5" EXACT [OMIM:606896]
synonym: "DYX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606896]
xref: MEDGEN:337746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606896 {source="MONDO:equivalentTo"}
xref: UMLS:C1847184 {source="MEDGEN:337746", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005489 {source="DC-OMIM:606896", source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia
relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0002-4142-7153"} ! dyslexia

[Term]
id: MONDO:0011748
name: Usher syndrome type 1G
def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15404", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH1G" EXACT ABBREVIATION [DOID:0110834, MONDO:Lexical, OMIM:606943]
synonym: "USH1G Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Usher syndrome caused by mutation in USH1G" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type 1G" EXACT CLINGEN_LABEL []
synonym: "Usher syndrome type Ig" EXACT [DOID:0110834]
synonym: "Usher syndrome, type 1G" RELATED [OMIM:606943]
synonym: "USHER syndrome, type Ig" RELATED [MONDO:Lexical, OMIM:606943]
xref: DOID:0110834 {source="MONDO:equivalentTo"}
xref: GARD:15404 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110834"}
xref: MEDGEN:339683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564643 {source="MONDO:equivalentTo"}
xref: OMIM:606943 {source="DOID:0110834", source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="OMIM:606943"}
xref: Orphanet:886 {source="OMIM:606943"}
xref: UMLS:C1847089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339683"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
is_a: MONDO:0019501 {source="DOID:0110834/inferred", source="MESH:C564643", source="MONDO:Redundant", source="OMIM:606943"} ! Usher syndrome
intersection_of: MONDO:0019501 ! Usher syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16356 ! USH1G
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606943"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16356 {source="MONDO:mim2gene_medgen"} ! USH1G

[Term]
id: MONDO:0011749
name: oculocutaneous albinism type 1B
def: "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." [Orphanet:79434]
subset: gard_rare {source="GARD:594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79434"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism, oculocutaneous, type 1B" RELATED [OMIM:606952]
synonym: "albinism, oculocutaneous, type I, temperature-sensitive" RELATED [OMIM:606952]
synonym: "albinism, oculocutaneous, type IB" RELATED [MONDO:Lexical, OMIM:606952]
synonym: "albinism, Yellow mutant type" EXACT [DOID:0070095, OMIM:606952]
synonym: "Oca1-Ts" RELATED [OMIM:606952]
synonym: "OCA1B" EXACT ABBREVIATION [DOID:0070095, MONDO:Lexical, OMIM:606952, Orphanet:79434]
synonym: "oculocutaneous albinism type IB" RELATED [DOID:0070095]
synonym: "oculocutaneous albinism, Amish type" EXACT [Orphanet:79434]
synonym: "oculocutaneous albinism, type 1B" RELATED [OMIM:606952]
synonym: "platinum oculocutaneous albinism" EXACT [Orphanet:79434]
synonym: "Yellow albinism" RELATED [OMIM:606952]
synonym: "Yellow mutant albinism" RELATED [GARD:0000594]
synonym: "Yellow oculocutaneous albinism" EXACT [Orphanet:79434]
xref: DOID:0070095 {source="MONDO:equivalentTo"}
xref: GARD:594 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:79434/attributed", source="Orphanet:79434/ntbt", source="Orphanet:79434"}
xref: MEDGEN:337712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537729 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434"}
xref: OMIM:606952 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434", source="DOID:0070095"}
xref: Orphanet:352731 {source="OMIM:606952"}
xref: Orphanet:352737 {source="OMIM:606952", source="MONDO:directSiblingOf"}
xref: Orphanet:79434 {source="OMIM:606952", source="MONDO:equivalentTo"}
xref: UMLS:C1847024 {source="MONDO:equivalentTo", source="MEDGEN:337712", source="MONDO:MEDGEN"}
is_a: MONDO:0018135 {source="Orphanet:79434"} ! oculocutaneous albinism type 1
is_a: MONDO:0018910 {source="DOID:0070095", source="MESH:C537729", source="MONDO:Redundant", source="OMIM:606952", source="Orphanet:79434/inferred"} ! oculocutaneous albinism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12442 {source="MONDO:mim2gene_medgen"} ! TYR
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b" xsd:anyURI {source="GARD:0000594"}

[Term]
id: MONDO:0011750
name: obsolete insulinoma tumor suppressor gene locus
synonym: "insulinoma tumor suppressor gene locus" EXACT [OMIM:606960]
xref: OMIM:606960 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0011751
name: COPD, severe early onset
synonym: "COPD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:606963]
synonym: "COPD, rate of decline of lung function in" EXACT [OMIM:606963, OMIM:genemap2]
synonym: "COPD, severe early-onset" EXACT [OMIM:606963]
synonym: "pulmonary disease, chronic obstructive" BROAD [MONDO:Lexical, OMIM:606963]
synonym: "pulmonary disease, chronic obstructive, severe early-onset" EXACT [OMIM:606963]
xref: MEDGEN:376022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606963 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1847014 {source="MEDGEN:376022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005002 ! chronic obstructive pulmonary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0011752
name: nephronophthisis 4
def: "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "juvenile nephronophthisis 4" EXACT [DOID:0111115]
synonym: "nephronophthisis (disease) caused by mutation in NPHP4" EXACT []
synonym: "nephronophthisis 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606966]
synonym: "nephronophthisis 4, juvenile" RELATED [OMIM:606966]
synonym: "nephronophthisis type 4" EXACT [DOID:0111115, MONDORULE:1, OMIM:606966]
synonym: "NPHP4" EXACT ABBREVIATION [DOID:0111115, MONDO:Lexical, OMIM:606966]
synonym: "NPHP4 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111115 {source="MONDO:equivalentTo"}
xref: MEDGEN:339667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564640 {source="MONDO:equivalentTo"}
xref: OMIM:606966 {source="MONDO:equivalentTo", source="DOID:0111115"}
xref: Orphanet:655 {source="OMIM:606966"}
xref: SCTID:446989009 {source="MONDO:equivalentTo"}
xref: UMLS:C1847013 {source="MEDGEN:339667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019005 {source="DC-OMIM:606966", source="DOID:0111115", source="MONDO:Redundant", source="OMIM:606966"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19104 ! NPHP4
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606966"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19104 {source="MONDO:mim2gene_medgen"} ! NPHP4

[Term]
id: MONDO:0011753
name: epilepsy, idiopathic generalized, susceptibility to, 2
subset: predisposition
synonym: "EIG2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606972]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:606972]
synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14" EXACT [OMIM:606972]
xref: DOID:0111317 {source="MONDO:equivalentTo"}
xref: MEDGEN:335573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606972 {source="MONDO:equivalentTo"}
xref: UMLS:C1846992 {source="MEDGEN:335573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:606972"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005579 {source="DC-OMIM:606972", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:606972"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0011754
name: familial hyperreninemic hypoaldosteronism type 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:99764"}
subset: rare
synonym: "aldosterone synthase deficiency unrelated to CYP11B2" EXACT [Orphanet:99764]
synonym: "aldosterone synthase deficiency unrelated to the aldosterone synthase gene" EXACT [Orphanet:99764]
synonym: "FHHA2" EXACT ABBREVIATION [Orphanet:99764]
synonym: "Fhha2" RELATED [OMIM:606984]
synonym: "hyperreninemic hypoaldosteronism, familial, 2" RELATED [OMIM:606984]
synonym: "hyperreninemic hypoaldosteronism, familial, type 2" EXACT [MONDORULE:1, OMIM:606984]
xref: ICD10CM:E27.4 {source="Orphanet:99764", source="Orphanet:99764/attributed", source="Orphanet:99764/ntbt"}
xref: MEDGEN:335571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564638 {source="MONDO:equivalentTo"}
xref: OMIM:606984 {source="Orphanet:99764", source="MONDO:equivalentTo", source="Orphanet:99764/e"}
xref: Orphanet:427 {source="OMIM:606984"}
xref: Orphanet:99764 {source="OMIM:606984", source="MONDO:equivalentObsolete"}
xref: UMLS:C1846990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335571"}
is_a: MONDO:0018541 {source="Orphanet:99764"} ! familial hypoaldosteronism

[Term]
id: MONDO:0011755
name: senior-loken syndrome 3
subset: gard_rare {source="GARD:15405", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SENIOR-Loken syndrome 3" RELATED [MONDO:Lexical, OMIM:606995]
synonym: "SLSN3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606995]
xref: GARD:15405 {source="MONDO:GARD"}
xref: MEDGEN:335569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564637 {source="MONDO:equivalentTo"}
xref: OMIM:606995 {source="MONDO:equivalentTo"}
xref: Orphanet:3156 {source="OMIM:606995"}
xref: UMLS:C1846980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335569"}
is_a: MONDO:0017842 {source="DC-OMIM:606995", source="OMIM:606995"} ! Senior-Loken syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606995"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0011756
name: Senior-Loken syndrome 4
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15406", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NPHP4 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SENIOR-Loken syndrome 4" RELATED [OMIM:606996]
synonym: "Senior-Loken syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606996]
synonym: "Senior-Loken syndrome caused by mutation in NPHP4" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 4" EXACT [MONDORULE:1, OMIM:606996]
synonym: "SLSN4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606996]
xref: GARD:15406 {source="MONDO:GARD"}
xref: MEDGEN:337697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537581 {source="MONDO:equivalentTo"}
xref: OMIM:606996 {source="MONDO:equivalentTo"}
xref: Orphanet:3156 {source="OMIM:606996"}
xref: UMLS:C1846979 {source="MEDGEN:337697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017842 {source="DC-OMIM:606996", source="MONDO:Redundant", source="OMIM:606996"} ! Senior-Loken syndrome
intersection_of: MONDO:0017842 ! Senior-Loken syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19104 ! NPHP4
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:606996"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19104 {source="MONDO:mim2gene_medgen"} ! NPHP4

[Term]
id: MONDO:0011757
name: brachydactyly type A1B
subset: gard_rare {source="GARD:15407", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDA1B" EXACT ABBREVIATION [DOID:0110974, MONDO:Lexical, OMIM:607004]
synonym: "brachydactyly, type A1, B" RELATED [MONDO:Lexical, OMIM:607004]
xref: DOID:0110974 {source="MONDO:equivalentTo"}
xref: GARD:15407 {source="MONDO:GARD"}
xref: MEDGEN:339652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564635 {source="MONDO:equivalentTo"}
xref: OMIM:607004 {source="DOID:0110974", source="MONDO:equivalentTo"}
xref: Orphanet:93388 {source="OMIM:607004"}
xref: UMLS:C1846949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339652"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
relationship: excluded_subClassOf MONDO:0007215 {source="DOID:0110974", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type A1

[Term]
id: MONDO:0011758
name: Hurler syndrome
def: "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." [Orphanet:93473]
subset: gard_rare {source="GARD:12559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hurler disease" EXACT [Orphanet:93473]
synonym: "Hurler syndrome" EXACT CLINGEN_LABEL [OMIM:607014]
synonym: "MPS I H" EXACT [NCIT:C61261]
synonym: "MPS1-H" RELATED [GARD:0012559]
synonym: "MPS1H" EXACT ABBREVIATION [Orphanet:93473]
synonym: "MPSIH" EXACT ABBREVIATION [Orphanet:93473]
synonym: "mucopolysaccharidosis IH" RELATED [GARD:0012559]
synonym: "mucopolysaccharidosis type 1H" EXACT [OMIM:607014, Orphanet:93473]
synonym: "mucopolysaccharidosis type IH" EXACT [Orphanet:93473]
xref: DOID:0111390 {source="MONDO:equivalentTo"}
xref: GARD:12559 {source="MONDO:GARD"}
xref: ICD10CM:E76.0 {source="Orphanet:93473/attributed", source="Orphanet:93473/ntbt", source="Orphanet:93473"}
xref: MEDGEN:39698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200094 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201168 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61261 {source="MONDO:equivalentTo"}
xref: OMIM:607014 {source="Orphanet:93473", source="MONDO:equivalentTo", source="Orphanet:93473/e"}
xref: Orphanet:579 {source="OMIM:607014"}
xref: Orphanet:93473 {source="MONDO:equivalentTo", source="OMIM:607014"}
xref: UMLS:C0086795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39698"}
is_a: MONDO:0001586 {source="NCIT:C61261", source="Orphanet:93473"} ! mucopolysaccharidosis type 1
is_a: MONDO:0002254 {source="NCIT:C61261"} ! syndromic disease
is_a: MONDO:0002561 {source="NCIT:C61261/inferred", source="Orphanet:93473/inferred", source="PMID:21723623"} ! lysosomal storage disease
is_a: MONDO:0016340 ! familial restrictive cardiomyopathy
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
disjoint_from: MONDO:0011759 ! Hurler-Scheie syndrome
relationship: disease_has_basis_in_disruption_of GO:0003940 ! L-iduronidase activity
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5391 {source="MONDO:mim2gene_medgen"} ! IDUA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011759
name: Hurler-Scheie syndrome
def: "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." [Orphanet:93476]
subset: gard_rare {source="GARD:12560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93476"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hurler-Scheie syndrome" EXACT CLINGEN_LABEL [OMIM:607015]
synonym: "Hurler–Scheie syndrome" RELATED [GARD:0012560]
synonym: "l-iduronidase deficiency, Scheie type" RELATED []
synonym: "MPS I H-S" EXACT [NCIT:C122782]
synonym: "MPS1-HS" RELATED [GARD:0012560]
synonym: "MPS1H/S" EXACT [Orphanet:93476]
synonym: "MPSIH/S" EXACT [Orphanet:93476]
synonym: "mucopolysaccharidosis IH/S" RELATED [GARD:0012560]
synonym: "mucopolysaccharidosis type 1H/S" EXACT [Orphanet:93476]
synonym: "mucopolysaccharidosis type I mild form" RELATED []
synonym: "mucopolysaccharidosis type I-S" RELATED []
synonym: "mucopolysaccharidosis type IH/S" EXACT [Orphanet:93476]
synonym: "mucopolysaccharidosis type Ih/S" RELATED [OMIM:607015]
synonym: "mucopolysaccharidosis, mps-I-s" EXACT []
synonym: "Scheie disease mps type 1s" RELATED []
synonym: "Scheie's syndrome" RELATED []
xref: DOID:0111389 {source="MONDO:equivalentTo"}
xref: GARD:12560 {source="MONDO:GARD"}
xref: ICD10CM:E76.0 {source="Orphanet:93476/attributed", source="Orphanet:93476/ntbt", source="Orphanet:93476"}
xref: MedDRA:10056916 {source="Orphanet:93476", source="Orphanet:93476/e"}
xref: MEDGEN:88566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200096 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201170 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122782 {source="MONDO:equivalentTo"}
xref: OMIM:607015 {source="Orphanet:93476", source="MONDO:equivalentTo", source="Orphanet:93476/e"}
xref: Orphanet:579 {source="OMIM:607015"}
xref: Orphanet:93476 {source="MONDO:equivalentTo", source="OMIM:607015"}
xref: SCTID:73123008 {source="MONDO:equivalentTo"}
xref: UMLS:C0086431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88566"}
is_a: MONDO:0001586 {source="NCIT:C122782", source="Orphanet:93476"} ! mucopolysaccharidosis type 1
is_a: MONDO:0002254 {source="NCIT:C122782"} ! syndromic disease
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
disjoint_from: MONDO:0011760 ! Scheie syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5391 {source="MONDO:mim2gene_medgen"} ! IDUA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011760
name: Scheie syndrome
def: "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." [Orphanet:93474]
subset: gard_rare {source="GARD:12561", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93474"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MPS I S" EXACT [NCIT:C61265]
synonym: "MPS V" RELATED [OMIM:607016]
synonym: "MPS V, formerly" RELATED [OMIM:607016]
synonym: "MPS1-S" RELATED [GARD:0012561]
synonym: "MPS1S" EXACT ABBREVIATION [Orphanet:93474]
synonym: "MPS5, formerly" RELATED [GARD:0012561]
synonym: "MPSIS" EXACT ABBREVIATION [Orphanet:93474]
synonym: "mucopolysaccharidosis Is" RELATED [GARD:0012561]
synonym: "mucopolysaccharidosis type 1S" EXACT [DOID:0060222, OMIM:607016, Orphanet:93474]
synonym: "mucopolysaccharidosis type IS" EXACT [DOID:0060222, Orphanet:93474]
synonym: "mucopolysaccharidosis type V" EXACT [DOID:0060222, OMIM:607016]
synonym: "mucopolysaccharidosis type V, formerly" RELATED [OMIM:607016]
synonym: "Scheie syndrome" EXACT CLINGEN_LABEL [OMIM:607016]
xref: DOID:0060222 {source="MONDO:equivalentTo"}
xref: GARD:12561 {source="MONDO:GARD"}
xref: ICD10CM:E76.0 {source="DOID:0060222", source="Orphanet:93474", source="Orphanet:93474/attributed", source="Orphanet:93474/ntbt"}
xref: MEDGEN:6453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200095 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201169 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61265 {source="MONDO:equivalentTo"}
xref: OMIM:607016 {source="DOID:0060222", source="Orphanet:93474", source="MONDO:equivalentTo", source="Orphanet:93474/e"}
xref: Orphanet:579 {source="OMIM:607016"}
xref: Orphanet:93474 {source="DOID:0060222", source="MONDO:equivalentTo", source="OMIM:607016"}
xref: UMLS:C0026708 {source="MEDGEN:6453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001586 {source="NCIT:C61265", source="Orphanet:93474"} ! mucopolysaccharidosis type 1
is_a: MONDO:0002254 {source="NCIT:C61265"} ! syndromic disease
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5391 {source="MONDO:mim2gene_medgen"} ! IDUA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome" xsd:anyURI {source="GARD:0012561"}

[Term]
id: MONDO:0011761
name: autosomal dominant nonsyndromic hearing loss 21
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3." [DOID:0110551, PMID:10764236]
subset: gard_rare {source="GARD:18116", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 21" NARROW [DOID:0110551]
synonym: "autosomal dominant nonsyndromic deafness 21" NARROW [OMIM:607017]
synonym: "autosomal dominant nonsyndromic deafness type 21" NARROW [DOID:0110551, MONDORULE:2]
synonym: "deafness, autosomal dominant 21" NARROW [MONDO:Lexical, OMIM:607017, OMIM:genemap2]
synonym: "DFNA21" NARROW ABBREVIATION [DOID:0110551, MONDO:Lexical, OMIM:607017]
xref: DOID:0110551 {source="MONDO:equivalentTo"}
xref: GARD:18116 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110551"}
xref: MEDGEN:339643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564634 {source="MONDO:equivalentTo"}
xref: OMIM:607017 {source="MONDO:equivalentTo", source="DOID:0110551"}
xref: UMLS:C1846922 {source="MEDGEN:339643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:607017", source="DOID:0110551", source="OMIM:607017"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011762
name: autosomal recessive nonsyndromic hearing loss 22
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 22" NARROW [DOID:0110480]
synonym: "autosomal recessive nonsyndromic deafness 22" NARROW [OMIM:607039]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOA" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 22" NARROW [DOID:0110480, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 22" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 22" NARROW [MONDO:Lexical, OMIM:607039, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 22" NARROW [MONDORULE:2, OMIM:607039]
synonym: "DFNB22" NARROW ABBREVIATION [DOID:0110480, MONDO:Lexical, OMIM:607039]
synonym: "OTOA autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110480 {source="MONDO:equivalentTo"}
xref: GARD:22601 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110480"}
xref: MEDGEN:339636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564633 {source="MONDO:equivalentTo"}
xref: OMIM:607039 {source="DOID:0110480", source="MONDO:equivalentTo"}
xref: UMLS:C1846896 {source="MEDGEN:339636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:607039", source="DOID:0110480", source="MONDO:Redundant", source="OMIM:607039"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16378 ! OTOA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16378 {source="MONDO:mim2gene_medgen"} ! OTOA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011763
name: obsolete T-box 24
xref: OMIM:607044 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4945" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0011764
name: autosomal dominant Parkinson disease 8
def: "Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Parkinson disease 8" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant Parkinson disease type 8" EXACT [DOID:0060371, MONDORULE:1]
synonym: "autosomal dominant Parkinson's disease 8" RELATED [DOID:0060371]
synonym: "LRRK2 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PARK8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607060]
synonym: "Parkinson disease 8" EXACT [OMIM:607060, OMIM:genemap2]
synonym: "Parkinson disease 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607060]
synonym: "Parkinson disease caused by mutation in LRRK2" EXACT [MONDO:design_pattern]
xref: DOID:0060371 {source="MONDO:equivalentTo"}
xref: GARD:18476 {source="MONDO:GARD"}
xref: MEDGEN:339628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607060 {source="MONDO:equivalentTo", source="DOID:0060371"}
xref: Orphanet:411602 {source="OMIM:607060"}
xref: UMLS:C1846862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339628"}
is_a: MONDO:0005180 {source="DOID:0060371/inferred", source="MONDO:Redundant", source="OMIM:607060"} ! Parkinson disease
is_a: MONDO:0008199 {source="DOID:0060371", source="Orphanet:411602"} ! late-onset Parkinson disease
intersection_of: MONDO:0005180 ! Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18618 ! LRRK2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18618 {source="MONDO:mim2gene_medgen"} ! LRRK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011765
name: multiple epiphyseal dysplasia type 5
def: "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." [Orphanet:93311]
subset: gard_rare {source="GARD:9794", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93311"}
subset: orphanet_rare {source="Orphanet:93311"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BHMED" EXACT ABBREVIATION [Orphanet:93311]
synonym: "bilateral hereditary micro-epiphyseal dysplasia" EXACT [Orphanet:93311]
synonym: "EDM5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607078, Orphanet:93311]
synonym: "epiphyseal dysplasia multiple 5" RELATED [GARD:0009794]
synonym: "epiphyseal dysplasia, multiple, 5" RELATED [MONDO:Lexical, OMIM:607078]
synonym: "epiphyseal dysplasia, multiple, type 5" EXACT [MONDORULE:1, OMIM:607078]
synonym: "MATN3 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MED5" EXACT ABBREVIATION [Orphanet:93311]
synonym: "Microepiphyseal dysplasia, bilateral hereditary" RELATED [OMIM:607078]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3" EXACT []
synonym: "multiple epiphyseal dysplasia 5" RELATED [GARD:0009794]
synonym: "multiple epiphyseal dysplasia, MATN3 related" RELATED [GARD:0009794]
synonym: "multiple epiphyseal dysplasia, MATN3-related" RELATED [OMIM:607078]
synonym: "Polyepiphyseal dysplasia type 5" EXACT [Orphanet:93311]
xref: DOID:0070299 {source="MONDO:equivalentTo"}
xref: GARD:9794 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:93311/attributed", source="Orphanet:93311/ntbt", source="MONDO:relatedTo", source="Orphanet:93311"}
xref: MEDGEN:335542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535505 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"}
xref: OMIM:607078 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"}
xref: Orphanet:93311 {source="MONDO:equivalentTo", source="OMIM:607078"}
xref: SCTID:715674008 {source="MONDO:equivalentTo"}
xref: UMLS:C1846843 {source="MEDGEN:335542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016648 {source="DC-OMIM:607078", source="MONDO:Redundant", source="OMIM:607078", source="Orphanet:93311"} ! multiple epiphyseal dysplasia
intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 ! MATN3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 {source="MONDO:mim2gene_medgen"} ! MATN3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011766
name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
subset: gard_rare {source="GARD:17034", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168563"}
subset: ordo_malformation_syndrome {source="Orphanet:168563"}
subset: orphanet_rare {source="Orphanet:168563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy" RELATED [OMIM:607080]
synonym: "46XY gonadal dysgenesis with minifascicular neuropathy" EXACT [OMIM:607080, OMIM:genemap2]
xref: GARD:17034 {source="MONDO:GARD"}
xref: ICD10CM:Q56.1 {source="Orphanet:168563", source="Orphanet:168563/attributed", source="Orphanet:168563/ntbt"}
xref: MEDGEN:1727162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567773 {source="MONDO:equivalentTo"}
xref: OMIM:607080 {source="Orphanet:168563", source="MONDO:equivalentTo", source="Orphanet:168563/e"}
xref: Orphanet:168563 {source="OMIM:607080", source="MONDO:equivalentTo"}
xref: UMLS:C5436061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1727162"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0010765 {source="MESH:C567773"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0020040 ! 46,XY disorder of sex development
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2865 {source="MONDO:mim2gene_medgen"} ! DHH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011767
name: autosomal recessive nonsyndromic hearing loss 31
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22602", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 31" NARROW [DOID:0110490]
synonym: "autosomal recessive nonsyndromic deafness 31" NARROW [OMIM:607084]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in WHRN" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 31" NARROW [DOID:0110490, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 31" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 31" NARROW [MONDO:Lexical, OMIM:607084, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 31" NARROW [MONDORULE:2, OMIM:607084]
synonym: "DFNB31" NARROW ABBREVIATION [DOID:0110490, MONDO:Lexical, OMIM:607084]
synonym: "whirler, mouse, homolog of" RELATED [OMIM:607084]
synonym: "WHRN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110490 {source="MONDO:equivalentTo"}
xref: GARD:22602 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110490"}
xref: MEDGEN:339621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564629 {source="MONDO:equivalentTo"}
xref: OMIM:607084 {source="MONDO:equivalentTo", source="DOID:0110490"}
xref: UMLS:C1846839 {source="MEDGEN:339621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:607084", source="DOID:0110490", source="MONDO:Redundant", source="OMIM:607084"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16361 ! WHRN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16361 {source="MONDO:mim2gene_medgen"} ! WHRN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011768
name: myasthenia gravis with thymus hyperplasia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Myas1" RELATED [OMIM:607085]
synonym: "myasthenia gravis with thymus hyperplasia" EXACT [OMIM:607085]
xref: MEDGEN:375982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564628 {source="MONDO:equivalentTo"}
xref: OMIM:607085 {source="MONDO:equivalentTo"}
xref: Orphanet:589 {source="OMIM:607085"}
xref: UMLS:C1846838 {source="MEDGEN:375982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009688 {source="MESH:C564628", source="Orphanet:589/btnt"} ! myasthenia gravis

[Term]
id: MONDO:0011769
name: obsolete familial aortic dissection
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/408" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019625

[Term]
id: MONDO:0011770
name: aortic aneurysm, familial thoracic 2
subset: gard_rare {source="GARD:15409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607087]
synonym: "aortic aneurysm, familial thoracic 2" EXACT [MONDO:Lexical, OMIM:607087]
synonym: "FAA2" RELATED ABBREVIATION [OMIM:607087]
xref: GARD:15409 {source="MONDO:GARD"}
xref: MEDGEN:335538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564627 {source="MONDO:equivalentTo"}
xref: OMIM:607087 {source="MONDO:equivalentTo"}
xref: Orphanet:91387 {source="OMIM:607087"}
xref: UMLS:C1846837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335538"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:607087", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection

[Term]
id: MONDO:0011771
name: neuronopathy, distal hereditary motor, autosomal recessive 3
def: "A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction." [Orphanet:139547]
subset: gard_rare {source="GARD:16956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139547"}
subset: orphanet_rare {source="Orphanet:139547"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [Orphanet:139547]
synonym: "dHMN3" RELATED [OMIM:607088]
synonym: "dHMN3 and dHMN4" EXACT [Orphanet:139547]
synonym: "dHMN4" RELATED [OMIM:607088]
synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT [Orphanet:139547]
synonym: "distal spinal muscular atrophy type 3" EXACT [Orphanet:139547]
synonym: "dSMA3" EXACT [MONDO:Lexical, OMIM:607088, Orphanet:139547]
synonym: "HMN 3" RELATED [OMIM:607088]
synonym: "HMN 4" RELATED [OMIM:607088]
synonym: "neuronopathy, distal hereditary motor, type 3" RELATED [OMIM:607088]
synonym: "neuronopathy, distal hereditary motor, type 4" RELATED [OMIM:607088]
synonym: "neuropathy, distal hereditary motor, type 4" RELATED [OMIM:607088]
synonym: "spinal muscular atrophy, chronic distal, autosomal recessive" EXACT [OMIM:607088, OMIM:genemap2]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:607088]
xref: DOID:0111211 {source="MONDO:equivalentTo"}
xref: GARD:16956 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:139547", source="Orphanet:139547/attributed", source="Orphanet:139547/ntbt"}
xref: MEDGEN:337659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564626 {source="MONDO:equivalentTo"}
xref: OMIM:607088 {source="Orphanet:139547", source="MONDO:equivalentTo", source="Orphanet:139547/e"}
xref: Orphanet:139547 {source="MONDO:equivalentTo", source="OMIM:607088"}
xref: UMLS:C1846823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337659"}
is_a: MONDO:0001516 {source="DC-OMIM:607088", source="MESH:C564626"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="Orphanet:139547"} ! neuronopathy, distal hereditary motor, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011772
name: B4GALT1-congenital disorder of glycosylation
def: "B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." [Orphanet:79332]
subset: gard_rare {source="GARD:9841", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79332"}
subset: orphanet_rare {source="Orphanet:79332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B4GALT1-CDG" EXACT ABBREVIATION [Orphanet:79332]
synonym: "B4GALT1-CDG (CDG-IId)" RELATED [GARD:0009841]
synonym: "B4GALT1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "Beta-1,4-galactosyltransferase deficiency" EXACT [Orphanet:79332]
synonym: "carbohydrate deficient glycoprotein syndrome type IId" EXACT [Orphanet:79332]
synonym: "CDG 2D" RELATED [GARD:0009841]
synonym: "CDG IId" RELATED [OMIM:607091]
synonym: "CDG syndrome type IId" EXACT [Orphanet:79332]
synonym: "CDG-IId" EXACT [Orphanet:79332]
synonym: "CDG2D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607091, Orphanet:79332]
synonym: "congenital disorder of glycosylation type 2d" EXACT [Orphanet:79332]
synonym: "congenital disorder of glycosylation type IId" EXACT [Orphanet:79332]
synonym: "congenital disorder of glycosylation, type IId" RELATED [MONDO:Lexical, OMIM:607091]
xref: DOID:0070256 {source="MONDO:equivalentTo"}
xref: GARD:9841 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79332/attributed", source="Orphanet:79332/ntbt", source="Orphanet:79332"}
xref: MEDGEN:419310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535753 {source="MONDO:equivalentTo"}
xref: OMIM:607091 {source="Orphanet:79332/e", source="MONDO:equivalentTo", source="Orphanet:79332"}
xref: Orphanet:79332 {source="OMIM:607091", source="MONDO:equivalentTo"}
xref: SCTID:725587007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419310"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005501 {source="DC-OMIM:607091", source="OMIM:607091"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017749 {source="Orphanet:79332"} ! disorder of multiple glycosylation
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/924 {source="MONDO:mim2gene_medgen"} ! B4GALT1

[Term]
id: MONDO:0011773
name: anauxetic dysplasia
def: "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." [DOID:0050640, https://www.ncbi.nlm.nih.gov/books/NBK84550/]
comment: Editor note: consider distinct subclass for type 1
subset: gard_rare {source="GARD:9657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93347"}
subset: orphanet_rare {source="Orphanet:93347"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "anauxetic dysplasia" EXACT [OMIM:607095]
synonym: "anauxetic dysplasia 1" RELATED [DOID:0050640, OMIM:607095]
synonym: "anauxetic dysplasia type 1" EXACT [DOID:0050640, MONDORULE:1]
synonym: "ANXD1" RELATED ABBREVIATION [OMIM:607095]
synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" EXACT [Orphanet:93347]
synonym: "spondyloepimetaphyseal dysplasia, Menger type" EXACT [Orphanet:93347]
synonym: "spondylometaepiphyseal dysplasia anauxetic type" RELATED [GARD:0009657]
synonym: "spondylometaepiphyseal dysplasia Menger type" RELATED [GARD:0009657]
synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095]
synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [DOID:0050640]
xref: DOID:0080942 {source="MONDO:equivalentTo"}
xref: GARD:9657 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93347", source="Orphanet:93347/attributed", source="Orphanet:93347/ntbt"}
xref: MEDGEN:375972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538256 {source="MONDO:equivalentTo", source="Orphanet:93347", source="Orphanet:93347/e"}
xref: OMIMPS:607095 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:93347 {source="MONDO:equivalentTo", source="OMIM:607095"}
xref: UMLS:C1846796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375972"}
is_a: MONDO:0016761 {source="DOID:0050640", source="Orphanet:93347"} ! spondyloepiphyseal dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607095"} ! inherited

[Term]
id: MONDO:0011774
name: autosomal recessive nonsyndromic hearing loss 30
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 30" NARROW [DOID:0110489]
synonym: "autosomal recessive nonsyndromic deafness 30" NARROW [OMIM:607101]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO3A" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 30" NARROW [DOID:0110489, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 30" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 30" NARROW [MONDO:Lexical, OMIM:607101, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 30" NARROW [MONDORULE:2, OMIM:607101]
synonym: "DFNB30" NARROW ABBREVIATION [DOID:0110489, MONDO:Lexical, OMIM:607101]
synonym: "MYO3A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110489 {source="MONDO:equivalentTo"}
xref: GARD:22603 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110489"}
xref: MEDGEN:335521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564624 {source="MONDO:equivalentTo"}
xref: OMIM:607101 {source="DOID:0110489", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="DOID:0110489", source="OMIM:607101"}
xref: UMLS:C1846784 {source="MEDGEN:335521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:607101", source="DOID:0110489", source="MONDO:Redundant", source="OMIM:607101"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7601 ! MYO3A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7601 {source="MONDO:mim2gene_medgen"} ! MYO3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011775
name: nasopharyngeal carcinoma, susceptibility to, 1
def: "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "nasopharyngeal cancer" RELATED [OMIM:607107]
synonym: "nasopharyngeal carcinoma" RELATED [OMIM:607107]
synonym: "nasopharyngeal carcinoma 1" EXACT [OMIM:607107, OMIM:genemap2]
synonym: "nasopharyngeal carcinoma caused by mutation in TP53" EXACT [MONDO:design_pattern]
synonym: "nasopharyngeal carcinoma, somatic" EXACT [OMIM:607107, OMIM:genemap2]
synonym: "nasopharyngeal carcinoma, susceptibility to, 1" EXACT [OMIM:607107]
synonym: "NPC" RELATED ABBREVIATION [OMIM:607107]
synonym: "Npca" RELATED [OMIM:607107]
synonym: "TP53 nasopharyngeal carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:339597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607107 {source="MONDO:equivalentTo"}
xref: Orphanet:150 {source="OMIM:607107"}
xref: UMLS:C1846758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339597"}
is_a: MONDO:0020573 {source="OMIM:607107", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 ! TP53
intersection_of: predisposes_towards MONDO:0015459 ! nasopharyngeal carcinoma
relationship: excluded_subClassOf MONDO:0015459 {source="OMIM:607107", source="https://orcid.org/0000-0001-5208-3432"} ! nasopharyngeal carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53
relationship: predisposes_towards MONDO:0015459 {source="OMIM:607107"} ! nasopharyngeal carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011776
name: CINCA syndrome
def: "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." [Orphanet:1451]
subset: gard_rare {source="GARD:1356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1496"}
subset: ordo_disorder {source="Orphanet:1451"}
subset: orphanet_rare {source="Orphanet:1451"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT [NCIT:C116380]
synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [DOID:0090029, Orphanet:1451]
synonym: "chronic neurologic cutaneous and articular syndrome" EXACT [DOID:0090029, OMIM:607115]
synonym: "CINCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607115]
synonym: "CINCA syndrome" EXACT [MONDO:Lexical, OMIM:607115]
synonym: "CINCA/NOMID" EXACT [NCIT:C116380]
synonym: "Cryopyrin-associated periodic syndrome 3" RELATED [OMIM:607115]
synonym: "cryopyrin-associated periodic syndrome 3" EXACT [DOID:0090029]
synonym: "infantile onset multisystem inflammatory disease" RELATED [GARD:0001356]
synonym: "infantile-onset multisystem inflammatory disease" EXACT [DOID:0090029, Orphanet:1451]
synonym: "IOMID" RELATED ABBREVIATION [GARD:0001356]
synonym: "IOMID syndrome" EXACT [DOID:0090029, Orphanet:1451]
synonym: "multisystem inflammatory disease, neonatal-onset" RELATED [OMIM:607115]
synonym: "neonatal onset multisystem inflammatory disease" RELATED [GARD:0001356]
synonym: "Neonatal-Onset Multisystem Inflammatory Disease" EXACT [NORD:1496]
synonym: "neonatal-onset multisystem inflammatory disease" EXACT [DOID:0090029, Orphanet:1451]
synonym: "NOMID" EXACT ABBREVIATION [NCIT:C116380]
synonym: "NOMID syndrome" EXACT [DOID:0090029, Orphanet:1451]
synonym: "Prieur Griscelli syndrome" RELATED [GARD:0001356]
synonym: "Prieur-Griscelli syndrome" EXACT [DOID:0090029, Orphanet:1451]
xref: DOID:0090029 {source="MONDO:equivalentTo"}
xref: GARD:1356 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:1451", source="Orphanet:1451/attributed", source="Orphanet:1451/ntbt", source="DOID:0090029"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200468 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201066 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116380 {source="MONDO:equivalentTo"}
xref: NORD:1496 {source="MONDO:NORD"}
xref: OMIM:607115 {source="Orphanet:1451", source="MONDO:equivalentTo", source="Orphanet:1451/e", source="DOID:0090029"}
xref: Orphanet:1451 {source="MONDO:equivalentTo", source="DOID:0090029", source="OMIM:607115"}
xref: SCTID:239826001 {source="MONDO:equivalentTo"}
xref: UMLS:C0409818 {source="MONDO:equivalentTo", source="MEDGEN:98370", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C116380"} ! syndromic disease
is_a: MONDO:0016168 {source="Orphanet:1451"} ! cryopyrin-associated periodic syndrome
is_a: MONDO:0019751 {source="Orphanet:1451/inferred", source="PMID:23827249"} ! autoinflammatory syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 {source="MONDO:mim2gene_medgen"} ! NLRP3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0011777
name: Alzheimer disease 8
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21." [DOID:0110041, PMID:9008509]
subset: gard_rare {source="GARD:16512", source="MONDO:GARD"}
subset: rare
synonym: "AD8" EXACT ABBREVIATION [DOID:0110041]
synonym: "Ad8" RELATED [OMIM:607116]
synonym: "Alzheimer disease 8" EXACT [DOID:0110041, OMIM:607116]
synonym: "Alzheimer disease type 8" EXACT [MONDORULE:1, OMIM:607116]
synonym: "Alzheimer disease, familial 8" EXACT [DOID:0110041]
synonym: "Alzheimer disease, familial, 8" RELATED [OMIM:607116]
synonym: "Alzheimer's disease 8" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 8" EXACT [DOID:0110041, MONDORULE:1]
xref: DOID:0110041 {source="MONDO:equivalentTo"}
xref: GARD:16512 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110041"}
xref: MEDGEN:375956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564622 {source="MONDO:equivalentTo"}
xref: OMIM:607116 {source="MONDO:equivalentTo", source="DOID:0110041"}
xref: UMLS:C1846735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375956"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0011778
name: multiple epiphyseal dysplasia, Al-Gazali type
def: "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism." [Orphanet:166024]
subset: gard_rare {source="GARD:17014", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166024"}
subset: orphanet_rare {source="Orphanet:166024"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGBK" RELATED ABBREVIATION [OMIM:607131]
synonym: "AL-Gazali-BAKALINOVA syndrome" RELATED [OMIM:607131]
synonym: "Al-Gazali-Bakalinova syndrome" RELATED [OMIM:607131]
synonym: "macrocephaly with multiple epiphyseal dysplasia and distinctive facies" RELATED [OMIM:607131]
synonym: "Mmedf" RELATED [OMIM:607131]
synonym: "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" EXACT [Orphanet:166024]
xref: GARD:17014 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:166024", source="MONDO:relatedTo", source="Orphanet:166024/attributed", source="Orphanet:166024/ntbt"}
xref: MEDGEN:335505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564621 {source="MONDO:equivalentTo"}
xref: OMIM:607131 {source="Orphanet:166024", source="MONDO:equivalentTo", source="Orphanet:166024/e"}
xref: Orphanet:166024 {source="MONDO:equivalentTo", source="OMIM:607131"}
xref: SCTID:719688002 {source="MONDO:equivalentTo"}
xref: UMLS:C1846722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335505"}
is_a: MONDO:0016648 {source="Orphanet:166024"} ! multiple epiphyseal dysplasia
is_a: MONDO:0800463 {source="https://clinicalgenome.org/affiliation/40060/"} ! KIF7-related ciliopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 {source="MONDO:mim2gene_medgen"} ! KIF7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0011779
name: laryngeal atresia, encephalocele, and limb deformities
synonym: "laryngeal atresia, encephalocele, and limb deformities" EXACT [OMIM:607132]
synonym: "Lel" RELATED [OMIM:607132]
xref: MEDGEN:335504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564620 {source="MONDO:equivalentTo"}
xref: OMIM:607132 {source="MONDO:equivalentTo"}
xref: UMLS:C1846721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335504"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011780
name: specific language impairment 3
synonym: "SLI3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607134]
synonym: "specific language impairment 3" EXACT [OMIM:607134]
synonym: "specific language impairment QTL, 3" EXACT [OMIM:607134, OMIM:genemap2]
synonym: "specific language impairment quantitative trait locus on chromosome 13" RELATED [OMIM:607134]
xref: MEDGEN:375953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607134 {source="MONDO:equivalentTo"}
xref: UMLS:C1846719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375953"}
is_a: MONDO:0000724 {source="DC-OMIM:607134", source="OMIM:607134"} ! specific language impairment
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011781
name: spinocerebellar ataxia type 17
def: "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." [Orphanet:98759]
subset: gard_rare {source="GARD:10469", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98759"}
subset: orphanet_rare {source="Orphanet:98759"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebelloparenchymal disorder II" EXACT [MONDO:Lexical, OMIM:213100]
synonym: "CPD, late-onset recessive type" RELATED [OMIM:213100]
synonym: "CPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213100]
synonym: "HDL4" EXACT ABBREVIATION [Orphanet:98759]
synonym: "Huntington disease-like 4" EXACT [OMIM:607136, Orphanet:98759]
synonym: "olivopontocerebellar atrophy 5" EXACT [MONDO:0008122]
synonym: "olivopontocerebellar atrophy type 5" EXACT [MONDORULE:1, OMIM:164700]
synonym: "olivopontocerebellar atrophy V" RELATED [OMIM:164700]
synonym: "OPCA V" EXACT ABBREVIATION [OMIM:164700]
synonym: "OPCA with dementia and extrapyramidal signs" EXACT [OMIM:164700]
synonym: "SCA 17" EXACT [GARD:0010469]
synonym: "SCA17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607136, Orphanet:98759]
synonym: "spinocerebellar ataxia 17" EXACT [MONDO:Lexical, OMIM:607136]
synonym: "spinocerebellar ataxia type 17" EXACT [MONDORULE:2, OMIM:607136]
xref: DOID:0050967 {source="MONDO:equivalentTo"}
xref: GARD:10469 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:98759", source="Orphanet:98759/attributed", source="Orphanet:98759/ntbt"}
xref: MEDGEN:337637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563505 {source="MONDO:equivalentTo"}
xref: MESH:C564616 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MESH:C565866 {source="MONDO:equivalentTo"}
xref: NCIT:C179861 {source="MONDO:equivalentTo"}
xref: OMIM:164700 {source="MONDO:equivalentObsolete"}
xref: OMIM:213100 {source="MONDO:equivalentObsolete"}
xref: OMIM:607136 {source="MONDO:equivalentTo", source="Orphanet:98759", source="DOID:0050967", source="Orphanet:98759/e"}
xref: Orphanet:98759 {source="MONDO:equivalentTo", source="OMIM:607136"}
xref: SCTID:719249005 {source="MONDO:equivalentTo"}
xref: UMLS:C1846707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337637"}
is_a: MONDO:0000114 {source="DC-OMIM:213100"} ! cerebelloparenchymal disorder
is_a: MONDO:0003847 {source="MESH:C563505/inferred"} ! hereditary disease
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0015548 {source="Orphanet:98759"} ! Huntington disease-like syndrome
is_a: MONDO:0019792 {source="Orphanet:98759"} ! autosomal dominant cerebellar ataxia type I
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11588 {source="MONDO:mim2gene_medgen"} ! TBP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3805" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4444" xsd:anyURI

[Term]
id: MONDO:0011782
name: angioid streaks
def: "Small breaks in the elastin-filled tissue of the retina." [MESH:D000793]
subset: otar {source="MONDO:OTAR"}
synonym: "angioid streaks" EXACT [OMIM:607140]
xref: DOID:13401 {source="EFO:1000805", source="MONDO:equivalentTo"}
xref: EFO:1000805 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MedDRA:10066191 {source="EFO:1000805"}
xref: MEDGEN:1541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000793 {source="EFO:1000805", source="MONDO:equivalentTo", source="DOID:13401"}
xref: OMIM:607140 {source="MONDO:equivalentTo", source="DOID:13401"}
xref: SCTID:86103006 {source="EFO:1000805"}
xref: UMLS:C0002982 {source="MONDO:equivalentTo", source="MEDGEN:1541", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005283 {source="DOID:13401", source="MESH:D000793"} ! retinal disorder

[Term]
id: MONDO:0011783
name: ALG12-congenital disorder of glycosylation
def: "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." [Orphanet:79324]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9833", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79324"}
subset: orphanet_rare {source="Orphanet:79324"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG12-CDG" EXACT ABBREVIATION [Orphanet:79324]
synonym: "ALG12-CDG (CDG-Ig)" RELATED [GARD:0009833]
synonym: "ALG12-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [GARD:0009833]
synonym: "carbohydrate deficient glycoprotein syndrome type Ig" EXACT [Orphanet:79324]
synonym: "CDG 1G" RELATED [GARD:0009833]
synonym: "CDG Ig" RELATED [OMIM:607143]
synonym: "CDG syndrome type Ig" EXACT [Orphanet:79324]
synonym: "CDG-Ig" EXACT [Orphanet:79324]
synonym: "CDG1G" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607143, Orphanet:79324]
synonym: "CDGIg" EXACT [NCIT:C126873]
synonym: "congenital disorder of glycosylation type 1g" EXACT [Orphanet:79324]
synonym: "congenital disorder of glycosylation type Ig" EXACT [Orphanet:79324]
synonym: "congenital disorder of glycosylation, type Ig" RELATED [MONDO:Lexical, OMIM:607143]
synonym: "mannosyltransferase 8 deficiency" EXACT [Orphanet:79324]
xref: DOID:0080559 {source="MONDO:equivalentTo"}
xref: GARD:9833 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79324/attributed", source="Orphanet:79324/ntbt", source="Orphanet:79324"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:443954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535745 {source="MONDO:equivalentTo"}
xref: NCIT:C126873 {source="MONDO:equivalentTo"}
xref: OMIM:607143 {source="Orphanet:79324/e", source="MONDO:equivalentTo", source="Orphanet:79324"}
xref: Orphanet:79324 {source="MONDO:equivalentTo", source="OMIM:607143"}
xref: SCTID:711155008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443954"}
is_a: MONDO:0005500 {source="DC-OMIM:607143"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535745", source="MONDO:0011783/inferred", source="MONDO:Redundant", source="NCIT:C126873", source="OMIM:607143", source="Orphanet:79324/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79324"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19358 {source="MONDO:mim2gene_medgen"} ! ALG12

[Term]
id: MONDO:0011784
name: Moyamoya disease 2
def: "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15410", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Moyamoya disease 2" EXACT [MONDO:Lexical, OMIM:607151]
synonym: "moyamoya disease 2, susceptibility to" EXACT [OMIM:607151, OMIM:genemap2]
synonym: "Moyamoya disease caused by mutation in RNF213" EXACT [MONDO:design_pattern]
synonym: "Moyamoya disease type 2" EXACT [MONDORULE:1, OMIM:607151]
synonym: "MYMY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607151]
synonym: "RNF213 Moyamoya disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15410 {source="MONDO:GARD"}
xref: MEDGEN:339584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536992 {source="MONDO:equivalentTo"}
xref: NCIT:C183312 {source="MONDO:equivalentTo"}
xref: OMIM:607151 {source="MONDO:equivalentTo"}
xref: Orphanet:2573 {source="OMIM:607151"}
xref: UMLS:C1846689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339584"}
is_a: MONDO:0016820 {source="DC-OMIM:607151", source="MESH:C536992", source="MONDO:Redundant", source="OMIM:607151"} ! Moyamoya disease
intersection_of: MONDO:0016820 ! Moyamoya disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14539 ! RNF213
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14539 {source="MONDO:mim2gene_medgen"} ! RNF213
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011785
name: hereditary spastic paraplegia 19
def: "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy." [Orphanet:100999]
subset: gard_rare {source="GARD:9588", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:100999"}
subset: orphanet_rare {source="Orphanet:100999"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 19" EXACT [DOID:0110772]
synonym: "autosomal dominant spastic paraplegia type 19" EXACT [DOID:0110772]
synonym: "hereditary spastic paraplegia type 19" EXACT [DOID:0110772, MONDORULE:2]
synonym: "spastic paraplegia 19" RELATED [GARD:0009588]
synonym: "spastic paraplegia 19, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607152]
synonym: "SPG19" EXACT ABBREVIATION [DOID:0110772, MONDO:Lexical, OMIM:607152, Orphanet:100999]
xref: DOID:0110772 {source="MONDO:equivalentTo"}
xref: GARD:9588 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:100999/attributed", source="Orphanet:100999/ntbt", source="Orphanet:100999", source="DOID:0110772"}
xref: MEDGEN:335494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536856 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="Orphanet:100999"}
xref: OMIM:607152 {source="Orphanet:100999/e", source="MONDO:equivalentTo", source="Orphanet:100999", source="DOID:0110772"}
xref: Orphanet:100999 {source="MONDO:equivalentTo", source="OMIM:607152", source="DOID:0110772"}
xref: SCTID:763375003 {source="MONDO:equivalentTo"}
xref: UMLS:C1846685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335494"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110772", source="MESH:C536856", source="MONDO:Redundant", source="OMIM:607152", source="Orphanet:100999/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0011786
name: allergic rhinitis
def: "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." [NCIT:C79532]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic form of rhinitis" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic rhinitis" EXACT [NCIT:C79532, OMIM:607154]
synonym: "Alrh" RELATED [OMIM:607154]
synonym: "atopic rhinitis" NARROW [DOID:4481]
synonym: "hay fever" RELATED EXCLUDE [DOID:4481]
synonym: "non-seasonal allergic rhinitis" NARROW [DOID:4481]
synonym: "Perenial allergic rhinitis" NARROW [DOID:4481]
synonym: "perennial allergic rhinitis" NARROW [DOID:4481]
synonym: "pollenosis" EXACT [DOID:4481]
synonym: "seasonal allergic rhinitis" NARROW [DOID:4481]
xref: DOID:4481 {source="EFO:0005854", source="MONDO:equivalentTo"}
xref: EFO:0005854 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0003193 {source="EFO:0005854", source="MONDO:otherHierarchy"}
xref: ICD9:477 {source="EFO:0005854"}
xref: ICD9:477.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:477.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:382012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34987 {source="DOID:4481"}
xref: NCIT:C79532 {source="EFO:0005854", source="MONDO:equivalentTo"}
xref: SCTID:38103000 {source="DOID:4481"}
xref: SCTID:61582004 {source="EFO:0005854", source="MONDO:equivalentTo"}
xref: UMLS:C2607914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382012"}
is_a: MONDO:0003014 {source="DOID:4481", source="MONDO:Redundant", source="NCIT:C79532"} ! rhinitis
is_a: MONDO:0005271 {source="EFO:0005854", source="MONDO:Redundant", source="MONDO:indirect"} ! allergic disease
intersection_of: MONDO:0003014 ! rhinitis
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011787
name: autosomal recessive limb-girdle muscular dystrophy type 2I
def: "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." [Orphanet:34515]
subset: gard_rare {source="GARD:12533", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:34515"}
subset: orphanet_rare {source="Orphanet:34515"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" EXACT [MONDO:design_pattern]
synonym: "FKRP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD-FKRP related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "LGMD2I" EXACT ABBREVIATION [DOID:0110299, Orphanet:34515]
synonym: "limb-girdle muscular dystrophy due to FKRP deficiency" EXACT [DOID:0110299, Orphanet:34515]
synonym: "limb-girdle muscular dystrophy type 2I" RELATED [GARD:0012533]
synonym: "MDDGC5" EXACT ABBREVIATION [DOID:0110299, MONDO:Lexical, OMIM:607155]
synonym: "muscular dystrophy limb-girdle type 2I" EXACT [DOID:0110299]
synonym: "muscular dystrophy, limb-girdle, type 2I" RELATED [OMIM:607155]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" EXACT [DOID:0110299]
synonym: "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5" EXACT [NCIT:C126739]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" RELATED [MONDO:Lexical, OMIM:607155]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5" EXACT [OMIM:607155]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" EXACT [DOID:0110299]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" RELATED [OMIM:607155]
xref: DOID:0110299 {source="MONDO:equivalentTo"}
xref: GARD:12533 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:34515/inclusion", source="Orphanet:34515/ntbt", source="Orphanet:34515", source="DOID:0110299"}
xref: MEDGEN:339580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564612 {source="MONDO:equivalentTo"}
xref: NCIT:C126739 {source="MONDO:equivalentTo"}
xref: OMIM:607155 {source="Orphanet:34515", source="MONDO:equivalentTo", source="Orphanet:34515/e", source="DOID:0110299"}
xref: Orphanet:34515 {source="MONDO:equivalentTo", source="OMIM:607155", source="DOID:0110299"}
xref: SCTID:718180000 {source="MONDO:equivalentTo"}
xref: UMLS:C1846672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339580"}
is_a: MONDO:0015152 {source="DOID:0110299", source="MONDO:Redundant", source="OMIM:607155", source="Orphanet:34515"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0016156 {source="Orphanet:34515"} ! qualitative or quantitative defects of FKRP
is_a: MONDO:0020121 {source="DOID:0110299/inferred", source="MESH:C564612/inferred", source="NCIT:C126739", source="OMIM:607155/inferred", source="Orphanet:34515/inferred"} ! muscular dystrophy
is_a: MONDO:0700066 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKRP
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 ! FKRP
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 {source="MONDO:mim2gene_medgen"} ! FKRP

[Term]
id: MONDO:0011788
name: cloverleaf skull-multiple congenital anomalies syndrome
def: "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." [Orphanet:93267]
subset: gard_rare {source="GARD:16811", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:93267"}
subset: ordo_malformation_syndrome {source="Orphanet:93267"}
subset: orphanet_rare {source="Orphanet:93267"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "multiple congenital anomalies syndrome with cloverleaf skull" RELATED [OMIM:607161]
xref: GARD:16811 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:93267/attributed", source="Orphanet:93267/ntbt", source="Orphanet:93267"}
xref: MEDGEN:375942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564611 {source="MONDO:equivalentTo"}
xref: OMIM:607161 {source="Orphanet:93267", source="MONDO:equivalentTo", source="Orphanet:93267/e"}
xref: Orphanet:93267 {source="MONDO:equivalentTo", source="OMIM:607161"}
xref: SCTID:717771007 {source="MONDO:equivalentTo"}
xref: UMLS:C1846671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375942"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015338 {source="Orphanet:93267"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:23633933", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0011789
name: familial meningioma
def: "A meningioma that is transmitted from the parents to an offspring." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial meningioma" EXACT CLINGEN_LABEL [NCIT:C5301]
synonym: "hereditary meningioma" EXACT [NCIT:C5301]
synonym: "hereditary meningioma (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "meningioma" BROAD [OMIM:607174, OMIM:genemap2]
synonym: "meningioma, familial, susceptibility to" RELATED [OMIM:607174]
synonym: "meningioma, NF2-related, somatic" EXACT [OMIM:607174, OMIM:genemap2]
synonym: "meningioma, SIS-related" EXACT [OMIM:607174, OMIM:genemap2]
synonym: "susceptibility to familial meningioma" RELATED [OMIM:607174]
xref: DOID:4586 {source="MONDO:equivalentTo"}
xref: GARD:18385 {source="MONDO:GARD"}
xref: MEDGEN:764829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537443 {source="DOID:4586", source="MONDO:equivalentTo"}
xref: NCIT:C5301 {source="DOID:4586", source="MONDO:equivalentTo"}
xref: OMIM:607174 {source="DOID:4586", source="MONDO:equivalentTo"}
xref: Orphanet:263662 {source="OMIM:607174"}
xref: UMLS:C3551915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764829"}
is_a: MONDO:0020573 {source="OMIM:607174"} ! inherited disease susceptibility
intersection_of: MONDO:0016642 ! meningioma
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011790
name: Amish lethal microcephaly
def: "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." [Orphanet:99742]
subset: gard_rare {source="GARD:8606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99742"}
subset: ordo_malformation_syndrome {source="Orphanet:99742"}
subset: orphanet_rare {source="Orphanet:99742"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Amish lethal microcephaly" EXACT [OMIM:607196]
synonym: "MCPHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607196]
synonym: "microcephaly, Amish type" RELATED [GARD:0008606, MONDO:Lexical, OMIM:607196]
synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" RELATED [OMIM:607196]
xref: GARD:8606 {source="MONDO:GARD"}
xref: ICD10CM:Q02 {source="Orphanet:99742", source="Orphanet:99742/attributed", source="Orphanet:99742/ntbt"}
xref: MEDGEN:375938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538247 {source="Orphanet:99742", source="MONDO:equivalentTo", source="Orphanet:99742/e"}
xref: OMIM:607196 {source="Orphanet:99742", source="MONDO:equivalentTo", source="Orphanet:99742/e"}
xref: Orphanet:99742 {source="MONDO:equivalentTo", source="OMIM:607196"}
xref: SCTID:702437000 {source="MONDO:equivalentTo"}
xref: UMLS:C1846648 {source="MEDGEN:375938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000152 {source="DC-OMIM:607196", source="OMIM:607196"} ! thiamine-responsive dysfunction syndrome
is_a: MONDO:0001149 {source="OMIM:607196"} ! microcephaly
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14409 {source="MONDO:mim2gene_medgen"} ! SLC25A19
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6445" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly" xsd:anyURI {source="GARD:0008606"}

[Term]
id: MONDO:0011791
name: obsolete deafness, autosomal recessive
is_obsolete: true
replaced_by: MONDO:0019588

[Term]
id: MONDO:0011792
name: thyroid dyshormonogenesis 6
def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18193", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DUOX2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOX2" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 6" RELATED [OMIM:607200]
synonym: "TDH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607200]
synonym: "thyroid dyshormonogenesis 6" EXACT [MONDO:Lexical, OMIM:607200]
synonym: "thyroid dyshormonogenesis type 6" EXACT [MONDORULE:1, OMIM:607200]
synonym: "thyroid hormonogenesis, genetic defect in, 6" RELATED [OMIM:607200]
xref: DOID:0112189 {source="MONDO:equivalentTo"}
xref: GARD:18193 {source="MONDO:GARD"}
xref: MEDGEN:375935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564608 {source="MONDO:equivalentTo"}
xref: OMIM:607200 {source="MONDO:equivalentTo"}
xref: Orphanet:95716 {source="OMIM:607200"}
xref: UMLS:C1846632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375935"}
is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis
intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13273 ! DUOX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13273 {source="MONDO:mim2gene_medgen"} ! DUOX2

[Term]
id: MONDO:0011793
name: celiac disease, susceptibility to, 5
subset: predisposition
synonym: "celiac disease, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:607202]
synonym: "CELIAC5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607202]
synonym: "gluten-sensitive enteropathy, susceptibility to, 5" RELATED [OMIM:607202]
synonym: "GSES" RELATED ABBREVIATION [OMIM:607202]
xref: MEDGEN:337622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607202 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:607202"}
xref: UMLS:C1846631 {source="MEDGEN:337622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:607202", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="OMIM:607202", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:607202"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011794
name: obsolete Dravet syndrome
def: "OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." [Orphanet:33069]
comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
subset: ordo_disorder {source="Orphanet:33069"}
xref: GARD:10430 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G40.4 {source="Orphanet:33069/attributed", source="Orphanet:33069/ntbt", source="Orphanet:33069"}
xref: icd11.foundation:1255654700 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:33069"}
xref: Orphanet:33069 {source="MONDO:obsoleteEquivalent", source="OMIM:607208"}
is_obsolete: true
replaced_by: MONDO:0100135

[Term]
id: MONDO:0011795
name: anonychia-microcephaly syndrome
def: "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." [Orphanet:1094]
subset: gard_rare {source="GARD:5123", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1094"}
subset: ordo_malformation_syndrome {source="Orphanet:1094"}
subset: orphanet_rare {source="Orphanet:1094"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anonychia total with microcephaly" RELATED [GARD:0000709]
synonym: "anonychia, total, with microcephaly" RELATED [OMIM:607214]
synonym: "Teebi-Kaurah syndrome" EXACT [Orphanet:1094]
synonym: "total anonychia congenita and microcephaly" RELATED [GARD:0000709]
synonym: "total anonychia with microcephaly" RELATED [GARD:0000709]
xref: GARD:5123 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1094/attributed", source="Orphanet:1094/ntbt", source="Orphanet:1094"}
xref: MEDGEN:339565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536948 {source="Orphanet:1094/e", source="Orphanet:1094"}
xref: OMIM:607214 {source="GARD:0000709", source="Orphanet:1094/e", source="MONDO:equivalentTo", source="Orphanet:1094"}
xref: Orphanet:1094 {source="MONDO:equivalentTo", source="OMIM:607214"}
xref: SCTID:720494009 {source="MONDO:equivalentTo"}
xref: UMLS:C1846617 {source="MEDGEN:339565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:1094"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1094", source="Orphanet:1094/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly" xsd:anyURI {source="GARD:0000709"}

[Term]
id: MONDO:0011796
name: epilepsy, partial, with pericentral spikes
synonym: "epilepsy, partial, with pericentral spikes" EXACT [MONDO:Lexical, OMIM:607221]
synonym: "Epps" RELATED [OMIM:607221]
synonym: "PEPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607221]
xref: MEDGEN:337614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564605 {source="MONDO:equivalentTo"}
xref: OMIM:607221 {source="MONDO:equivalentTo"}
xref: UMLS:C1846609 {source="MEDGEN:337614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011797
name: infantile-onset ascending hereditary spastic paralysis
def: "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." [Orphanet:293168]
subset: gard_rare {source="GARD:4914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293168"}
subset: orphanet_rare {source="Orphanet:293168"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IAHSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607225, Orphanet:293168]
synonym: "spastic paralysis, infantile onset ascending" RELATED [GARD:0004914]
synonym: "spastic paralysis, infantile-onset ascending" RELATED [MONDO:Lexical, OMIM:607225]
xref: GARD:4914 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:293168", source="Orphanet:293168/attributed", source="Orphanet:293168/ntbt"}
xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:419413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537217 {source="MONDO:equivalentTo"}
xref: OMIM:607225 {source="MONDO:equivalentTo", source="Orphanet:293168", source="Orphanet:293168/e"}
xref: Orphanet:293168 {source="MONDO:equivalentTo", source="OMIM:607225"}
xref: SCTID:703543005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419413"}
is_a: MONDO:0020128 {source="Orphanet:293168", source="Orphanet:293168/inferred"} ! motor neuron disorder
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 {source="MONDO:mim2gene_medgen"} ! ALS2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis" xsd:anyURI {source="GARD:0004914"}

[Term]
id: MONDO:0011798
name: hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
synonym: "harp syndrome" RELATED [OMIM:607236]
synonym: "hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" EXACT [OMIM:607236]
xref: MEDGEN:337612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564603 {source="MONDO:equivalentTo"}
xref: OMIM:607236 {source="MONDO:equivalentTo"}
xref: Orphanet:157855 {source="MONDO:equivalentObsolete", source="OMIM:607236"}
xref: UMLS:C1846582 {source="MEDGEN:337612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564603/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15894 {source="MONDO:mim2gene_medgen"} ! PANK2

[Term]
id: MONDO:0011799
name: autosomal recessive nonsyndromic hearing loss 33
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1." [DOID:0110492, PMID:12080392]
subset: gard_rare {source="GARD:22604", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 33" NARROW [DOID:0110492]
synonym: "autosomal recessive nonsyndromic deafness 33" NARROW [OMIM:607239]
synonym: "autosomal recessive nonsyndromic deafness type 33" NARROW [DOID:0110492, MONDORULE:2]
synonym: "deafness, autosomal recessive 33" NARROW [MONDO:Lexical, OMIM:607239, OMIM:genemap2]
synonym: "DFNB33" NARROW ABBREVIATION [DOID:0110492, MONDO:Lexical, OMIM:607239]
xref: DOID:0110492 {source="MONDO:equivalentTo"}
xref: GARD:22604 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110492"}
xref: MEDGEN:335464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564602 {source="MONDO:equivalentTo"}
xref: OMIM:607239 {source="MONDO:equivalentTo", source="DOID:0110492"}
xref: UMLS:C1846576 {source="MEDGEN:335464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:607239", source="DOID:0110492", source="OMIM:607239"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011800
name: glioma susceptibility 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioma susceptibility 4" EXACT [MONDO:Lexical, OMIM:607248]
synonym: "GLM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607248]
xref: MEDGEN:416425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607248 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="OMIM:607248"}
xref: UMLS:C2750944 {source="MEDGEN:416425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100242 {source="OMIM:607248"} ! glioma susceptibility
relationship: predisposes_towards MONDO:0100342 ! malignant glioma

[Term]
id: MONDO:0011801
name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
def: "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." [Orphanet:94124]
subset: gard_rare {source="GARD:10000", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1730"}
subset: ordo_disorder {source="Orphanet:94124"}
subset: orphanet_rare {source="Orphanet:94124"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy" BROAD [DOID:0090115]
synonym: "SCAN1" EXACT ABBREVIATION [DOID:0090115, MONDO:Lexical, OMIM:607250, Orphanet:94124]
synonym: "spinocerebellar ataxia autosomal recessive with axonal neuropathy" RELATED [GARD:0010000]
synonym: "spinocerebellar ataxia type 1 with axonal neuropathy" EXACT [Orphanet:94124]
synonym: "Spinocerebellar Ataxia with Axonal Neuropathy" EXACT [NORD:1730]
synonym: "spinocerebellar ataxia with axonal neuropathy" RELATED [GARD:0010000]
synonym: "spinocerebellar ataxia with axonal neuropathy type 1" RELATED [Orphanet:94124]
synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" BROAD [OMIM:607250]
synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" EXACT CLINGEN_LABEL []
xref: DOID:0090115 {source="MONDO:equivalentTo"}
xref: GARD:10000 {source="MONDO:GARD"}
xref: ICD10CM:G60.2 {source="Orphanet:94124/attributed", source="Orphanet:94124/ntbt", source="Orphanet:94124", source="DOID:0090115"}
xref: MEDGEN:1683470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537313 {source="MONDO:equivalentTo"}
xref: NORD:1730 {source="MONDO:NORD"}
xref: OMIM:607250 {source="Orphanet:94124", source="MONDO:equivalentTo", source="DOID:0090115", source="Orphanet:94124/e"}
xref: Orphanet:94124 {source="MONDO:equivalentTo", source="OMIM:607250", source="DOID:0090115"}
xref: SCTID:765091006 {source="MONDO:equivalentTo"}
xref: UMLS:C4759870 {source="MONDO:equivalentTo", source="MEDGEN:1683470", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="Orphanet:94124"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0020127 {source="Orphanet:94124"} ! hereditary peripheral neuropathy
is_a: MONDO:0020771 {source="OMIM:607250"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18884 {source="MONDO:mim2gene_medgen", source="OMIM:607250"} ! TDP1

[Term]
id: MONDO:0011802
name: hypercalciuria, absorptive, 1
subset: gard_rare {source="GARD:18584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Hca1" RELATED [OMIM:607258]
synonym: "hypercalciuria, absorptive" EXACT [OMIM:607258, OMIM:genemap2]
synonym: "hypercalciuria, absorptive, 1" EXACT [OMIM:607258]
synonym: "hypercalciuria, absorptive, type 1" EXACT [MONDORULE:1, OMIM:607258]
xref: GARD:18584 {source="MONDO:GARD"}
xref: MEDGEN:375924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564600 {source="MONDO:equivalentTo"}
xref: OMIM:607258 {source="MONDO:equivalentTo"}
xref: Orphanet:2197 {source="OMIM:607258"}
xref: UMLS:C1846573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375924"}
is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011803
name: hereditary spastic paraplegia 7
def: "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia." [Orphanet:99013]
subset: gard_rare {source="GARD:4927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99013"}
subset: orphanet_rare {source="Orphanet:99013"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 7" EXACT [DOID:0110816]
synonym: "hereditary spastic paraplegia 7" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia caused by mutation in SPG7" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia paraplegin type" RELATED [GARD:0004927]
synonym: "hereditary spastic paraplegia type 7" EXACT [DOID:0110816, MONDORULE:1]
synonym: "spastic paraplegia 7" RELATED [GARD:0004927]
synonym: "spastic paraplegia 7, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607259]
synonym: "spastic paraplegia type 7" EXACT [DOID:0110816]
synonym: "SPG7" EXACT ABBREVIATION [DOID:0110816, MONDO:Lexical, OMIM:607259, Orphanet:99013]
synonym: "SPG7 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110816 {source="MONDO:equivalentTo"}
xref: GARD:4927 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:99013/attributed", source="Orphanet:99013/ntbt", source="DOID:0110816", source="Orphanet:99013"}
xref: MEDGEN:339552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564599 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:607259 {source="Orphanet:99013/e", source="MONDO:equivalentTo", source="DOID:0110816", source="Orphanet:99013"}
xref: Orphanet:99013 {source="OMIM:607259", source="MONDO:equivalentTo", source="DOID:0110816"}
xref: SCTID:715776003 {source="MONDO:equivalentTo"}
xref: UMLS:C1846564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339552"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019064 {source="DOID:0110816", source="MONDO:Redundant", source="OMIM:607259", source="Orphanet:99013/inferred"} ! hereditary spastic paraplegia
is_a: MONDO:0100309 {source="Orphanet:99013"} ! hereditary ataxia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11237 ! SPG7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11237 {source="MONDO:mim2gene_medgen"} ! SPG7

[Term]
id: MONDO:0011804
name: autoimmune lymphoproliferative syndrome type 2B
def: "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." [Orphanet:275517]
subset: gard_rare {source="GARD:9796", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:275517"}
subset: orphanet_rare {source="Orphanet:275517"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALPS with recurrent viral infections" EXACT [DOID:0110116, Orphanet:275517]
synonym: "ALPS2B" EXACT ABBREVIATION [DOID:0110116]
synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP8" EXACT [MONDO:design_pattern]
synonym: "autoimmune lymphoproliferative syndrome type IIB" EXACT [DOID:0110116]
synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT [DOID:0110116]
synonym: "autoimmune lymphoproliferative syndrome, type 2B" RELATED [OMIM:607271]
synonym: "autoimmune lymphoproliferative syndrome, type IIB" EXACT [OMIM:607271, OMIM:genemap2]
synonym: "CASP8 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "caspase 8 deficiency" EXACT [DOID:0110116, OMIM:607271]
synonym: "caspase 8 deficiency syndrome" EXACT [DOID:0110116, Orphanet:275517]
synonym: "caspase eight deficiency state" EXACT [DOID:0110116]
synonym: "caspase-8 deficiency" RELATED [GARD:0009796]
synonym: "CEDS" EXACT ABBREVIATION [DOID:0110116, Orphanet:275517]
synonym: "Ceds" RELATED [OMIM:607271]
xref: DOID:0110116 {source="MONDO:equivalentTo"}
xref: GARD:9796 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="DOID:0110116", source="Orphanet:275517/attributed", source="Orphanet:275517/ntbt", source="Orphanet:275517"}
xref: MEDGEN:339548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200740 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:607271 {source="DOID:0110116", source="Orphanet:275517/e", source="MONDO:equivalentTo", source="Orphanet:275517"}
xref: Orphanet:275517 {source="DOID:0110116", source="MONDO:equivalentTo", source="OMIM:607271"}
xref: SCTID:722290008 {source="MONDO:equivalentTo"}
xref: UMLS:C1846545 {source="MEDGEN:339548", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017979 {source="DC-OMIM:607271", source="DOID:0110116", source="MONDO:Redundant"} ! autoimmune lymphoproliferative syndrome
intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1509 ! CASP8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1509 {source="MONDO:mim2gene_medgen"} ! CASP8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011805
name: asthma-related traits, susceptibility to, 1
def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "AS1" RELATED ABBREVIATION [OMIM:607277]
synonym: "ASRT1" RELATED ABBREVIATION [OMIM:607277]
synonym: "asthma, susceptibility to, 1" EXACT [OMIM:607277, OMIM:genemap2]
synonym: "asthma-related traits, susceptibility to, 1" EXACT [OMIM:607277]
synonym: "asthma-related traits, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607277]
synonym: "inherited susceptibility to asthma caused by mutation in PTGDR" EXACT [MONDO:design_pattern]
synonym: "PTGDR inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:339547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607277 {source="MONDO:equivalentTo"}
xref: UMLS:C1846534 {source="MEDGEN:339547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010940 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma
intersection_of: MONDO:0010940 ! inherited susceptibility to asthma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9591 ! PTGDR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9591 {source="MONDO:mim2gene_medgen"} ! PTGDR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011806
name: osteofibrous dysplasia
def: "A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases." [NCIT:C53970]
subset: gard_rare {source="GARD:10887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488265"}
subset: orphanet_rare {source="Orphanet:488265"}
subset: rare
synonym: "cortical fibrous dysplasia" EXACT [NCIT:C53970]
synonym: "Kempson-Campanacci lesion" EXACT [NCIT:C53970]
synonym: "OFD" EXACT ABBREVIATION [Orphanet:488265]
synonym: "OSFD" EXACT ABBREVIATION [OMIM:607278]
synonym: "ossifying fibroma of long bones" EXACT [NCIT:C53970]
synonym: "osteofibrous dysplasia" EXACT [OMIM:607278]
synonym: "osteofibrous dysplasia of bone" EXACT [NCIT:C53970]
synonym: "osteofibrous dysplasia, susceptibility to" RELATED [OMIM:607278]
synonym: "tibia, bowing of, with pseudarthrosis and pectus excavatum" EXACT [OMIM:609143]
xref: GARD:10887 {source="MONDO:GARD"}
xref: MEDGEN:895748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563276 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MESH:C563787 {source="MONDO:equivalentTo"}
xref: NCIT:C53970 {source="MONDO:equivalentTo"}
xref: OMIM:607278 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:488265"}
xref: OMIM:609143 {source="MONDO:equivalentObsolete"}
xref: Orphanet:488265 {source="MONDO:equivalentTo"}
xref: UMLS:C4085248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895748"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018230 {source="Orphanet:488265"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7029 {source="MONDO:mim2gene_medgen"} ! MET
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011807
name: systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1
subset: predisposition
synonym: "SLEH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607279]
synonym: "systemic lupus erythematosus with hemolytic anaemia" EXACT OMO:0003005 []
synonym: "systemic lupus erythematosus with hemolytic anemia" EXACT [OMIM:607279, OMIM:genemap2]
synonym: "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607279]
synonym: "systemic lupus erythematosus, hemolytic Anemia-related" EXACT [OMIM:607279]
xref: MEDGEN:375913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607279 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:607279"}
xref: UMLS:C1846533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375913"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011808
name: cataract 27
def: "A cataract that has material basis in mutation in the region 2p12." [DOID:0110233, PMID:12091400]
subset: gard_rare {source="GARD:18235", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 27" EXACT [MONDO:Lexical, OMIM:607304]
synonym: "cataract 27 nuclear progressive" EXACT [DOID:0110233]
synonym: "cataract 27, nuclear progressive" RELATED [OMIM:607304]
synonym: "cataract type 27" EXACT [DOID:0110233, MONDORULE:2]
synonym: "Ccnp" RELATED [OMIM:607304]
synonym: "CTRCT27" EXACT ABBREVIATION [DOID:0110233, MONDO:Lexical, OMIM:607304]
xref: DOID:0110233 {source="MONDO:equivalentTo"}
xref: GARD:18235 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110233"}
xref: MEDGEN:335448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564596 {source="MONDO:equivalentTo"}
xref: OMIM:607304 {source="MONDO:equivalentTo", source="DOID:0110233"}
xref: Orphanet:91492 {source="OMIM:607304"}
xref: Orphanet:98991 {source="OMIM:607304"}
xref: UMLS:C1846520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335448"}
is_a: MONDO:0005129 {source="DOID:0110233", source="MESH:C564596", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:607304"} ! cataract
is_a: MONDO:0011060 {source="PMID:12091400"} ! early-onset non-syndromic cataract
is_a: MONDO:0020376 {source="Orphanet:98991/btnt", source="PMID:12091400"} ! early-onset nuclear cataract

[Term]
id: MONDO:0011809
name: obsolete mammographic density
synonym: "mammographic density" EXACT [OMIM:607308]
xref: MESH:C564595 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:607308 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0011810
name: horizontal gaze palsy with progressive scoliosis
def: "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." [Orphanet:2744]
subset: gard_rare {source="GARD:12682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2744"}
subset: orphanet_rare {source="Orphanet:2744"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "gaze palsy, familial horizontal, with progressive scoliosis" RELATED [GARD:0012682, MONDO:Lexical, OMIM:607313]
synonym: "gaze palsy, horizontal, with progressive scoliosis" RELATED [GARD:0012682]
synonym: "HGPPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607313, Orphanet:2744]
synonym: "ophthalmoplegia, progressive external, and scoliosis" RELATED [OMIM:607313]
synonym: "progressive external ophthalmoplegia and scoliosis" EXACT [Orphanet:2744]
xref: GARD:12682 {source="MONDO:GARD"}
xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:2744", source="Orphanet:2744/attributed", source="Orphanet:2744/ntbt"}
xref: ICD9:737.43 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1683615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564593 {source="MONDO:equivalentTo"}
xref: OMIMPS:607313 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2744 {source="MONDO:equivalentTo", source="OMIM:607313"}
xref: SCTID:702381007 {source="MONDO:equivalentTo"}
xref: UMLS:C4760875 {source="MEDGEN:1683615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:2744", source="Orphanet:2744/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607313"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis" xsd:anyURI {source="GARD:0012682"}

[Term]
id: MONDO:0011811
name: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
def: "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances." [Orphanet:95434]
subset: gard_rare {source="GARD:4952", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95434"}
subset: orphanet_rare {source="Orphanet:95434"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCAR4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607317, Orphanet:95434]
synonym: "SCASI" EXACT ABBREVIATION [Orphanet:95434]
synonym: "spinocerebellar ataxia 24" RELATED [OMIM:607317]
synonym: "spinocerebellar ataxia 24 (formerly)" RELATED [GARD:0004952]
synonym: "spinocerebellar ataxia 24, formerly" RELATED [OMIM:607317]
synonym: "spinocerebellar ataxia autosomal recessive 4" RELATED [GARD:0004952]
synonym: "spinocerebellar ataxia with saccadic Intrusions" RELATED [OMIM:607317]
synonym: "spinocerebellar ataxia, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:607317]
xref: DOID:0111611 {source="MONDO:equivalentTo"}
xref: GARD:4952 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:95434/attributed", source="Orphanet:95434/ntbt", source="Orphanet:95434"}
xref: MEDGEN:335442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537310 {source="MONDO:equivalentTo"}
xref: OMIM:607317 {source="Orphanet:95434", source="MONDO:equivalentTo", source="Orphanet:95434/e"}
xref: Orphanet:95434 {source="OMIM:607317", source="MONDO:equivalentTo"}
xref: UMLS:C1846492 {source="MEDGEN:335442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020047 {source="Orphanet:95434"} ! autosomal recessive syndromic cerebellar ataxia

[Term]
id: MONDO:0011812
name: Duane-radial ray syndrome
def: "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." [Orphanet:93293]
subset: gard_rare {source="GARD:9182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:959", source="Orphanet:93293"}
subset: ordo_malformation_syndrome {source="Orphanet:959", source="Orphanet:93293"}
subset: orphanet_rare {source="Orphanet:959", source="Orphanet:93293"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acro-renal-ocular syndrome" EXACT [MONDO:0019863]
synonym: "acrorenocular syndrome" EXACT [DOID:0060747, OMIM:607323]
synonym: "DR syndrome" EXACT [DOID:0060747, OMIM:607323]
synonym: "DRRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607323]
synonym: "Duane anomaly with radial abnormalities and deafness" RELATED [GARD:0009182]
synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT [DOID:0060747, OMIM:607323]
synonym: "Duane-radial ray syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607323, Orphanet:93293]
synonym: "Okihiro syndrome" EXACT [DOID:0060747, GARD:0009182, OMIM:607323]
xref: DOID:0060747 {source="MONDO:equivalentTo"}
xref: GARD:9182 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:93293/attributed", source="Orphanet:93293/ntbt", source="Orphanet:959", source="DOID:0060747", source="Orphanet:959/attributed", source="Orphanet:959/ntbt", source="Orphanet:93293"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:301647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607323 {source="Orphanet:93293/e", source="MONDO:equivalentTo", source="Orphanet:959", source="DOID:0060747", source="Orphanet:959/ntbt", source="Orphanet:93293"}
xref: Orphanet:93293 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0060747", source="OMIM:607323"}
xref: Orphanet:959 {source="MONDO:equivalentTo"}
xref: SCTID:699867001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:720415006 {source="MONDO:equivalentTo"}
xref: UMLS:C1623209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:301647"}
is_a: MONDO:0000426 {source="DOID:0060747", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:607323", source="Orphanet:93293", source="Orphanet:959"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15924 {source="MONDO:mim2gene_medgen"} ! SALL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome" xsd:anyURI {source="GARD:0009182"}

[Term]
id: MONDO:0011813
name: polydactyly, postaxial, type A3
subset: gard_rare {source="GARD:18174", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PAPA3" RELATED ABBREVIATION [OMIM:607324]
synonym: "Papa3" RELATED [OMIM:607324]
synonym: "polydactyly, postaxial, type A3" EXACT [OMIM:607324]
synonym: "postaxial polydactyly, type A3" RELATED [OMIM:607324]
xref: GARD:18174 {source="MONDO:GARD"}
xref: MEDGEN:337585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564590 {source="MONDO:equivalentTo"}
xref: OMIM:607324 {source="MONDO:equivalentTo"}
xref: Orphanet:93334 {source="OMIM:607324"}
xref: UMLS:C1846452 {source="MEDGEN:337585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A

[Term]
id: MONDO:0011814
name: Smith-McCort dysplasia 1
def: "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DYM Smith-McCort dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SMC" RELATED ABBREVIATION [OMIM:607326]
synonym: "Smc1" RELATED [MONDO:Lexical, OMIM:607326]
synonym: "Smith-McCort dysplasia" BROAD [OMIM:607326, OMIM:genemap2]
synonym: "SMITH-McCort dysplasia 1" RELATED [OMIM:607326]
synonym: "Smith-McCort dysplasia 1" EXACT [MONDO:Lexical, OMIM:607326]
synonym: "Smith-McCort dysplasia caused by mutation in DYM" EXACT [MONDO:design_pattern]
synonym: "Smith-McCort dysplasia type 1" EXACT [MONDORULE:1, OMIM:607326]
xref: DOID:0081270 {source="MONDO:equivalentTo"}
xref: GARD:15411 {source="MONDO:GARD"}
xref: MEDGEN:854757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607326 {source="MONDO:equivalentTo"}
xref: Orphanet:178355 {source="OMIM:607326"}
xref: UMLS:C3888088 {source="MEDGEN:854757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015799 {source="DC-OMIM:607326", source="MONDO:Redundant", source="OMIM:607326"} ! Smith-McCort dysplasia
intersection_of: MONDO:0015799 ! Smith-McCort dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21317 ! DYM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21317 {source="MONDO:mim2gene_medgen"} ! DYM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011815
name: hypertension, essential, susceptibility to, 3
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 3" EXACT [OMIM:607329]
synonym: "hypertension, essential, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:607329]
synonym: "Hyt3" RELATED [OMIM:607329]
xref: MEDGEN:339523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607329 {source="MONDO:equivalentTo"}
xref: UMLS:C1846430 {source="MEDGEN:339523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:607329", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0001134 {source="OMIM:607329", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
relationship: excluded_subClassOf MONDO:0007781 {source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension, genetic
relationship: predisposes_towards MONDO:0007781 {source="OMIM:607329"} ! essential hypertension, genetic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011816
name: lathosterolosis
def: "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." [Orphanet:46059]
subset: gard_rare {source="GARD:9711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:46059"}
subset: orphanet_rare {source="Orphanet:46059"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lathosterolosis" EXACT [OMIM:607330]
synonym: "Sc5D deficiency" RELATED [OMIM:607330]
synonym: "sterol C5-desaturase deficiency" EXACT [OMIM:607330, Orphanet:46059]
xref: GARD:9711 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:46059/attributed", source="Orphanet:46059/ntbt", source="Orphanet:46059"}
xref: MEDGEN:375885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537880 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"}
xref: OMIM:607330 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"}
xref: Orphanet:46059 {source="MONDO:equivalentTo", source="OMIM:607330"}
xref: SCTID:719257008 {source="MONDO:equivalentTo"}
xref: UMLS:C1846421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375885"}
is_a: MONDO:0019240 {source="Orphanet:46059"} ! sterol biosynthesis disorder
relationship: disease_has_basis_in_disruption_of GO:0033490 ! cholesterol biosynthetic process via lathosterol
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10547 {source="MONDO:mim2gene_medgen"} ! SC5D
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis" xsd:anyURI {source="GARD:0009711"}

[Term]
id: MONDO:0011817
name: coronary heart disease, susceptibility to, 1
def: "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "Chds1" RELATED [OMIM:607339]
synonym: "coronary artery disease caused by mutation in CX3CR1" EXACT [MONDO:design_pattern]
synonym: "coronary artery disease, resistance to" EXACT [OMIM:607339, OMIM:genemap2]
synonym: "coronary heart disease, susceptibility to" EXACT [OMIM:607339, OMIM:genemap2]
synonym: "coronary heart disease, susceptibility to, 1" EXACT [OMIM:607339]
synonym: "coronary heart disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607339]
synonym: "CX3CR1 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:375884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607339 {source="MONDO:equivalentTo"}
xref: UMLS:C1846418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375884"}
is_a: MONDO:0020573 {source="OMIM:607339", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2558 ! CX3CR1
intersection_of: predisposes_towards MONDO:0005010 ! coronary artery disorder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005010 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2558 {source="MONDO:mim2gene_medgen"} ! CX3CR1
relationship: predisposes_towards MONDO:0005010 {source="OMIM:607339"} ! coronary artery disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011818
name: isolated focal cortical dysplasia type II
subset: gard_rare {source="GARD:10190", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDT" RELATED ABBREVIATION [GARD:0010190]
synonym: "cortical dysplasia of Taylor" RELATED [GARD:0010190, OMIM:607341]
synonym: "cortical dysplasia of Taylor with balloon cells" RELATED [OMIM:607341]
synonym: "cortical dysplasia of Taylor without balloon cells" RELATED [OMIM:607341]
synonym: "cortical dysplasia of Taylor, dysplasia only" RELATED [OMIM:607341]
synonym: "cortical dysplasia, Taylor type" EXACT [Orphanet:268994]
synonym: "FCD 2A" RELATED [OMIM:607341]
synonym: "FCD 2B" RELATED [OMIM:607341]
synonym: "FCD type II" EXACT [Orphanet:268994]
synonym: "Fcd2" RELATED [OMIM:607341]
synonym: "FCDT" RELATED ABBREVIATION [GARD:0010190, MONDO:Lexical, OMIM:607341]
synonym: "FCORD2" RELATED ABBREVIATION [OMIM:607341]
synonym: "focal cortical dysplasia of Taylor" RELATED [MONDO:Lexical, OMIM:607341]
synonym: "focal cortical dysplasia of Taylor, type 2A" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia of Taylor, type 2B" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia type 2" RELATED [GARD:0010190]
synonym: "focal cortical dysplasia type II" RELATED [GARD:0010190]
synonym: "focal cortical dysplasia, type 2" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia, type 2A" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia, type 2B" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia, type II" RELATED [OMIM:607341]
synonym: "focal cortical dysplasia, type II, somatic" EXACT [OMIM:607341, OMIM:genemap2]
synonym: "isolated focal cortical dysplasia type 2" EXACT [Orphanet:268994]
xref: GARD:10190 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:268994/attributed", source="Orphanet:268994/ntbt", source="Orphanet:268994"}
xref: MEDGEN:339510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537067 {source="MONDO:equivalentTo"}
xref: OMIM:607341 {source="Orphanet:268994", source="MONDO:equivalentTo", source="Orphanet:268994/e", source="GARD:0010190"}
xref: Orphanet:268994 {source="MONDO:equivalentTo", source="OMIM:607341"}
xref: Orphanet:269001 {source="OMIM:607341"}
xref: Orphanet:269008 {source="OMIM:607341"}
xref: Orphanet:65683 {source="OMIM:607341"}
xref: Orphanet:99964 {source="GARD:0010190"}
xref: UMLS:C1846385 {source="MEDGEN:339510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019009 {source="Orphanet:268994"} ! isolated focal cortical dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10190/focal-cortical-dysplasia-of-taylor" xsd:anyURI {source="GARD:0010190"}

[Term]
id: MONDO:0011819
name: spinocerebellar ataxia type 19/22
def: "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." [Orphanet:98772]
subset: gard_rare {source="GARD:12365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98772"}
subset: orphanet_rare {source="Orphanet:98772"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607346]
synonym: "SCA19/22" EXACT [Orphanet:98772]
synonym: "spinocerebellar ataxia 19" RELATED [MONDO:Lexical, OMIM:607346]
synonym: "spinocerebellar ataxia 19 and 22" RELATED [GARD:0012365]
synonym: "spinocerebellar ataxia 22" RELATED [OMIM:607346]
synonym: "spinocerebellar ataxia type 19" EXACT [MONDORULE:2, OMIM:607346]
xref: DOID:0050970 {source="MONDO:equivalentTo"}
xref: GARD:12365 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98772/attributed", source="Orphanet:98772/ntbt", source="Orphanet:98772"}
xref: MEDGEN:339504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537198 {source="Orphanet:98772/e", source="MONDO:equivalentTo", source="Orphanet:98772"}
xref: MESH:C542540 {source="MONDO:equivalentTo"}
xref: NCIT:C163756 {source="MONDO:equivalentTo"}
xref: OMIM:607346 {source="DOID:0050970", source="Orphanet:98772/e", source="MONDO:equivalentTo", source="Orphanet:98772"}
xref: Orphanet:101107 {source="OMIM:607346"}
xref: Orphanet:98772 {source="MONDO:equivalentTo", source="OMIM:607346"}
xref: SCTID:719251009 {source="MONDO:equivalentTo"}
xref: UMLS:C1846367 {source="MEDGEN:339504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:98772"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6239 {source="MONDO:mim2gene_medgen"} ! KCND3

[Term]
id: MONDO:0011820
name: scoliosis, isolated, susceptibility to, 2
subset: predisposition
synonym: "IS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607354]
synonym: "scoliosis, idiopathic 2" EXACT [OMIM:607354, OMIM:genemap2]
synonym: "scoliosis, isolated, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607354]
xref: MEDGEN:375871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607354 {source="MONDO:equivalentTo"}
xref: UMLS:C1846366 {source="MONDO:equivalentTo", source="MEDGEN:375871", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011821
name: Meckel syndrome, type 3
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:8744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Meckel syndrome 3" RELATED [DOID:0070117]
synonym: "Meckel syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome type 3" RELATED [GARD:0008744]
synonym: "Meckel syndrome, type 3" EXACT [MONDO:Lexical, OMIM:607361]
synonym: "Meckel-Gruber syndrome, type 3" EXACT [DOID:0070117, OMIM:607361]
synonym: "MKS3" EXACT ABBREVIATION [DOID:0070117, MONDO:Lexical, OMIM:607361]
synonym: "TMEM67 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070117 {source="MONDO:equivalentTo"}
xref: GARD:8744 {source="MONDO:GARD"}
xref: ICD10CM:Q61.9 {source="DOID:0070117"}
xref: MEDGEN:335402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536132 {source="MONDO:equivalentTo"}
xref: OMIM:607361 {source="MONDO:equivalentTo", source="DOID:0070117"}
xref: Orphanet:564 {source="OMIM:607361"}
xref: UMLS:C1846357 {source="MONDO:equivalentTo", source="MEDGEN:335402", source="MONDO:MEDGEN"}
is_a: MONDO:0018921 {source="DC-OMIM:607361", source="DOID:0070117", source="MONDO:Redundant", source="OMIM:607361"} ! Meckel syndrome
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 ! TMEM67
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 {source="MONDO:mim2gene_medgen"} ! TMEM67
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3" xsd:anyURI {source="GARD:0008744"}

[Term]
id: MONDO:0011822
name: Bartter disease type 3
def: "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." [Orphanet:93605]
subset: gard_rare {source="GARD:9659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93605"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult Bartter syndrome" EXACT [Orphanet:93605]
synonym: "BARTS3" EXACT ABBREVIATION [DOID:0110144]
synonym: "Bartter disease type 3" EXACT CLINGEN_LABEL []
synonym: "Bartter syndrome classic" RELATED [GARD:0009659]
synonym: "Bartter syndrome type 3" EXACT [DOID:0110144, Orphanet:93605]
synonym: "Bartter syndrome type III" EXACT [Orphanet:93605]
synonym: "Bartter syndrome, classic" RELATED [OMIM:607364]
synonym: "Bartter syndrome, type 3" RELATED [OMIM:607364]
synonym: "Bartter syndrome, type 3, with hypocalciuria" RELATED [OMIM:607364]
synonym: "classic Bartter syndrome" EXACT [DOID:0110144]
xref: DOID:0110144 {source="MONDO:equivalentTo"}
xref: GARD:9659 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="Orphanet:93605/attributed", source="Orphanet:93605/ntbt", source="Orphanet:93605", source="DOID:0110144"}
xref: MEDGEN:335399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607364 {source="Orphanet:93605/e", source="MONDO:equivalentTo", source="Orphanet:93605", source="DOID:0110144"}
xref: Orphanet:112 {source="OMIM:607364"}
xref: Orphanet:93605 {source="MONDO:equivalentTo", source="OMIM:607364"}
xref: SCTID:700111000 {source="MONDO:equivalentTo"}
xref: UMLS:C1846343 {source="MEDGEN:335399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015231 {source="DC-OMIM:607364", source="DOID:0110144", source="OMIM:607364", source="Orphanet:93605"} ! Bartter syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2027 {source="MONDO:mim2gene_medgen"} ! CLCNKB

[Term]
id: MONDO:0011823
name: developmental malformations-deafness-dystonia syndrome
def: "Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome." [Orphanet:79107]
subset: gard_rare {source="GARD:9818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79107"}
subset: ordo_malformation_syndrome {source="Orphanet:79107"}
subset: orphanet_rare {source="Orphanet:79107"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DJO" RELATED ABBREVIATION [MESH:C537704, MONDO:Lexical, OMIM:607371]
synonym: "dystonia, juvenile-onset" RELATED [GARD:0009818, MESH:C537704, MONDO:Lexical, OMIM:607371]
synonym: "juvenile-onset dystonia" RELATED [GARD:0009818]
xref: GARD:9818 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:79107/attributed", source="Orphanet:79107/ntbt", source="Orphanet:79107"}
xref: MEDGEN:339494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537704 {source="MONDO:equivalentTo"}
xref: OMIM:607371 {source="Orphanet:79107", source="GARD:0009818", source="MONDO:equivalentTo", source="Orphanet:79107/e"}
xref: Orphanet:79107 {source="MONDO:equivalentTo", source="OMIM:607371"}
xref: UMLS:C1846331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339494"}
is_a: MONDO:0015161 {source="Orphanet:79107"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:79107", source="Orphanet:79107/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/132 {source="MONDO:mim2gene_medgen"} ! ACTB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia" xsd:anyURI {source="GARD:0009818"}

[Term]
id: MONDO:0011824
name: autism, susceptibility to, 8
subset: predisposition
synonym: "autism susceptibility 8, isolated cases" EXACT [OMIM:607373, OMIM:genemap2]
synonym: "autism, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:607373]
synonym: "AUTS2" RELATED ABBREVIATION [OMIM:607373]
synonym: "AUTS2, formerly" RELATED [OMIM:607373]
synonym: "AUTS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607373]
xref: MEDGEN:409897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607373 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:607373"}
xref: UMLS:C1969710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409897"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011825
name: streptococcus, group A, severity of infection by
synonym: "streptococcus, group A, severity of infection by" EXACT [OMIM:607395]
xref: MEDGEN:375858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607395 {source="MONDO:equivalentTo"}
xref: UMLS:C1846298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375858"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011826
name: glucocorticoid deficiency 2
def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial glucocorticoid deficiency 2" RELATED [OMIM:607398]
synonym: "familial glucocorticoid deficiency caused by mutation in MRAP" EXACT [MONDO:design_pattern]
synonym: "GCCD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607398]
synonym: "glucocorticoid deficiency 2" EXACT [MONDO:Lexical, OMIM:607398]
synonym: "glucocorticoid deficiency type 2" EXACT [MONDORULE:1, OMIM:607398]
synonym: "MRAP familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15412 {source="MONDO:GARD"}
xref: MEDGEN:891117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564577 {source="MONDO:equivalentTo"}
xref: NANDO:1200409 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123728 {source="MONDO:equivalentTo"}
xref: OMIM:607398 {source="MONDO:equivalentTo"}
xref: Orphanet:361 {source="OMIM:607398"}
xref: UMLS:C4049714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:891117"}
is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:607398", source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency
intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1304 ! MRAP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1304 {source="MONDO:mim2gene_medgen"} ! MRAP

[Term]
id: MONDO:0011827
name: patent ductus arteriosus
def: "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: prototype_pattern
subset: rare
synonym: "ductus arteriosus, patent" RELATED [DOID:13832]
synonym: "patency of the ductus arteriosus" RELATED [GARD:0007342]
synonym: "patent ductus arteriosus" EXACT [Orphanet:706]
synonym: "patent ductus arteriosus familial (type)" RELATED [GARD:0007342]
synonym: "patent ductus botalli" EXACT [DOID:13832]
synonym: "PDA" EXACT ABBREVIATION [NCIT:C84492]
synonym: "persistent patency of the arterial duct" EXACT [Orphanet:706]
xref: DOID:13832 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q25.0 {source="DOID:13832", source="MONDO:equivalentTo"}
xref: ICD9:747.0 {source="DOID:13832", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004374 {source="DOID:13832", source="MONDO:equivalentTo"}
xref: NANDO:2100084 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200264 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84492 {source="DOID:13832", source="MONDO:equivalentTo"}
xref: OMIMPS:607411 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:706 {source="MONDO:equivalentObsolete", source="OMIM:607411"}
xref: SCTID:156928009 {source="DOID:13832"}
xref: SCTID:83330001 {source="DOID:13832", source="MONDO:equivalentTo"}
xref: UMLS:C0013274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4415"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005385 {source="NCIT:C84492"} ! vascular disorder
is_a: MONDO:0005453 {source="DOID:13832", source="MESH:D004374"} ! congenital heart disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607411"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus" xsd:anyURI {source="GARD:0007342"}

[Term]
id: MONDO:0011828
name: intellectual disability, autosomal recessive 2
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN" EXACT [MONDO:design_pattern]
synonym: "CRBN autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:607417]
synonym: "intellectual disability, autosomal recessive 2A" RELATED [OMIM:607417]
synonym: "intellectual disability, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:607417]
synonym: "mental retardation, autosomal recessive 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:607417]
synonym: "mental retardation, autosomal recessive 2A" RELATED DEPRECATED [OMIM:607417]
synonym: "mental retardation, autosomal recessive type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:607417]
synonym: "MRT2" RELATED DEPRECATED [MONDO:Lexical, OMIM:607417]
xref: DOID:0081178 {source="MONDO:equivalentTo"}
xref: GARD:22538 {source="MONDO:GARD"}
xref: MEDGEN:334541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564404 {source="MONDO:equivalentTo"}
xref: OMIM:607417 {source="MONDO:equivalentTo"}
xref: UMLS:C1843942 {source="MEDGEN:334541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:607417", source="MONDO:Redundant", source="OMIM:607417"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30185 ! CRBN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30185 {source="MONDO:mim2gene_medgen"} ! CRBN

[Term]
id: MONDO:0011829
name: coenzyme Q10 deficiency, primary, 1
def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "coenzyme Q deficiency 1" RELATED [OMIM:607426]
synonym: "coenzyme Q10 deficiency caused by mutation in COQ2" EXACT [MONDO:design_pattern]
synonym: "coenzyme Q10 deficiency, primary, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607426]
synonym: "coenzyme Q10 deficiency, primary, type 1" EXACT [MONDORULE:1, OMIM:607426]
synonym: "CoQ deficiency 1" RELATED [OMIM:607426]
synonym: "Coq10 deficiency, primary, 1" RELATED [OMIM:607426]
synonym: "COQ10D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607426]
synonym: "COQ2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ubiquinone deficiency 1" RELATED [OMIM:607426]
xref: DOID:0070238 {source="MONDO:equivalentTo"}
xref: GARD:18378 {source="MONDO:GARD"}
xref: MEDGEN:764868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607426 {source="MONDO:equivalentTo"}
xref: Orphanet:255249 {source="OMIM:607426"}
xref: UMLS:C3551954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764868"}
is_a: MONDO:0018151 {source="MONDO:Redundant", source="OMIM:607426"} ! coenzyme Q10 deficiency
intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25223 ! COQ2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25223 {source="MONDO:mim2gene_medgen"} ! COQ2

[Term]
id: MONDO:0011830
name: lissencephaly due to LIS1 mutation
def: "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia." [Orphanet:95232]
subset: gard_rare {source="GARD:16838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95232"}
subset: orphanet_rare {source="Orphanet:95232"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LIS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607432]
synonym: "lissencephaly 1" RELATED [MONDO:Lexical, OMIM:607432]
synonym: "lissencephaly sequence, isolated" RELATED [OMIM:607432]
synonym: "lissencephaly type 1" RELATED EXCLUDE [MONDORULE:1, OMIM:607432]
synonym: "lissencephaly, classic" RELATED [OMIM:607432]
synonym: "PAFAH1B1-related lissencephaly" EXACT [Orphanet:95232]
synonym: "subcortical band heterotopia" RELATED [OMIM:607432]
synonym: "subcortical laminar heterotopia" RELATED [OMIM:607432]
xref: DOID:0112237 {source="MONDO:equivalentTo"}
xref: GARD:16838 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:95232", source="Orphanet:95232/attributed", source="Orphanet:95232/ntbt"}
xref: MEDGEN:1657090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607432 {source="Orphanet:95232", source="MONDO:equivalentTo", source="Orphanet:95232/e"}
xref: Orphanet:95232 {source="MONDO:equivalentTo", source="OMIM:607432"}
xref: Orphanet:99796 {source="MONDO:relatedTo", source="OMIM:607432"}
xref: UMLS:C4749301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657090"}
is_a: MONDO:0015146 {source="Orphanet:95232"} ! classic lissencephaly
is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:607432", source="Orphanet:95232/inferred"} ! lissencephaly spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8574 {source="MONDO:mim2gene_medgen"} ! PAFAH1B1

[Term]
id: MONDO:0011831
name: arrhythmogenic right ventricular dysplasia 8
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT [DOID:0110076, OMIM:607450]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia 8" EXACT CLINGEN_LABEL []
synonym: "arrhythmogenic right ventricular dysplasia type 8" EXACT [DOID:0110076, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 8" RELATED [MONDO:Lexical, OMIM:607450]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 8" EXACT [MONDORULE:1, OMIM:607450]
synonym: "ARVC8" EXACT ABBREVIATION [DOID:0110076]
synonym: "ARVD8" EXACT ABBREVIATION [DOID:0110076, MONDO:Lexical, OMIM:607450]
synonym: "DSP arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial arrhythmogenic right ventricular dysplasia 8" EXACT [DOID:0110076]
xref: DOID:0110076 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110076"}
xref: MEDGEN:336069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564400 {source="MONDO:equivalentTo"}
xref: OMIM:607450 {source="MONDO:equivalentTo", source="DOID:0110076"}
xref: Orphanet:217656 {source="OMIM:607450"}
xref: UMLS:C1843896 {source="MEDGEN:336069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016342 {source="DOID:0110076", source="MESH:C564400", source="MONDO:Redundant", source="OMIM:607450", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 ! DSP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP

[Term]
id: MONDO:0011832
name: autosomal dominant nonsyndromic hearing loss 44
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 44" NARROW [DOID:0110569]
synonym: "autosomal dominant nonsyndromic deafness 44" NARROW [OMIM:607453]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 44" NARROW [DOID:0110569, MONDORULE:2]
synonym: "CCDC50 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 44" NARROW [MONDO:Lexical, OMIM:607453, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 44" NARROW [MONDORULE:2, OMIM:607453]
synonym: "DFNA44" NARROW ABBREVIATION [DOID:0110569, MONDO:Lexical, OMIM:607453]
xref: DOID:0110569 {source="MONDO:equivalentTo"}
xref: GARD:18118 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110569"}
xref: MEDGEN:334525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564399 {source="MONDO:equivalentTo"}
xref: OMIM:607453 {source="DOID:0110569", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="OMIM:607453"}
xref: UMLS:C1843895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334525"}
is_a: MONDO:0019587 {source="DC-OMIM:607453", source="DOID:0110569", source="MONDO:Redundant", source="OMIM:607453"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18111 ! CCDC50
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18111 {source="MONDO:mim2gene_medgen"} ! CCDC50
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011833
name: spinocerebellar ataxia type 21
def: "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." [Orphanet:98773]
subset: gard_rare {source="GARD:9999", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98773"}
subset: orphanet_rare {source="Orphanet:98773"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607454, Orphanet:98773]
synonym: "spinocerebellar ataxia 21" RELATED [MONDO:Lexical, OMIM:607454]
synonym: "spinocerebellar ataxia type 21" EXACT [MONDORULE:2, OMIM:607454]
xref: DOID:0050972 {source="MONDO:equivalentTo"}
xref: GARD:9999 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:98773", source="Orphanet:98773/attributed", source="Orphanet:98773/ntbt"}
xref: MEDGEN:375311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537200 {source="Orphanet:98773", source="MONDO:equivalentTo", source="Orphanet:98773/e"}
xref: OMIM:607454 {source="Orphanet:98773", source="DOID:0050972", source="MONDO:equivalentTo", source="Orphanet:98773/e"}
xref: Orphanet:98773 {source="MONDO:equivalentTo", source="OMIM:607454"}
xref: SCTID:718774001 {source="MONDO:equivalentTo"}
xref: UMLS:C1843891 {source="MEDGEN:375311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:98773"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25186 {source="MONDO:mim2gene_medgen"} ! TMEM240

[Term]
id: MONDO:0011834
name: spinocerebellar ataxia type 18
def: "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia." [Orphanet:98771]
subset: gard_rare {source="GARD:9976", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98771"}
subset: orphanet_rare {source="Orphanet:98771"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607458, Orphanet:98771]
synonym: "sensorimotor neuropathy with ataxia autosomal dominant" RELATED [GARD:0009976]
synonym: "sensorimotor neuropathy with ataxia, autosomal dominant" RELATED [OMIM:607458]
synonym: "SMNA" RELATED ABBREVIATION [GARD:0009976]
synonym: "spinocerebellar ataxia 18" RELATED [MONDO:Lexical, OMIM:607458]
xref: DOID:0050969 {source="MONDO:equivalentTo"}
xref: GARD:9976 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:98771/attributed", source="Orphanet:98771/ntbt", source="Orphanet:98771"}
xref: MEDGEN:336066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537197 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="Orphanet:98771"}
xref: OMIM:607458 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="DOID:0050969", source="Orphanet:98771"}
xref: Orphanet:98771 {source="OMIM:607458", source="MONDO:equivalentTo"}
xref: SCTID:719250005 {source="MONDO:equivalentTo"}
xref: UMLS:C1843884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336066"}
is_a: MONDO:0019792 {source="Orphanet:98771"} ! autosomal dominant cerebellar ataxia type I

[Term]
id: MONDO:0011835
name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
def: "A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia." [Orphanet:70595]
subset: gard_rare {source="GARD:9998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70595", source="Orphanet:402082"}
subset: orphanet_rare {source="Orphanet:70595", source="Orphanet:402082"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, progressive myoclonic, 5" RELATED [MONDO:Lexical, OMIM:613832]
synonym: "epilepsy, progressive myoclonic, 5, formerly" RELATED [OMIM:607459]
synonym: "epilepsy, progressive myoclonic, type 5" EXACT [MONDORULE:1, OMIM:613832]
synonym: "epilepsy, progressive myoclonic, with sensory ataxic neuropathy" RELATED [OMIM:607459]
synonym: "EPM5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613832, Orphanet:402082]
synonym: "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" EXACT [OMIM:607459, OMIM:genemap2]
synonym: "PME type 5" EXACT [Orphanet:402082]
synonym: "PRICKLE2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE2" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonus epilepsy type 5" EXACT [Orphanet:402082]
synonym: "SANDO" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607459, Orphanet:70595]
synonym: "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive" RELATED [OMIM:607459]
synonym: "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" EXACT [OMIM:607459]
synonym: "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" RELATED [Orphanet:70595]
synonym: "spinocerebellar ataxia with epilepsy" RELATED [OMIM:607459]
xref: DOID:0111276 {source="MONDO:equivalentTo"}
xref: GARD:9998 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:402082", source="Orphanet:402082/attributed", source="Orphanet:402082/ntbt"}
xref: ICD10CM:G71.3 {source="Orphanet:70595/attributed", source="Orphanet:70595/ntbt", source="Orphanet:70595"}
xref: MEDGEN:375302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537583 {source="Orphanet:70595", source="Orphanet:70595/e"}
xref: OMIM:607459 {source="Orphanet:70595", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:70595/e"}
xref: OMIM:613832 {source="MONDO:equivalentObsolete", source="Orphanet:402082", source="Orphanet:402082/e"}
xref: Orphanet:254881 {source="OMIM:607459"}
xref: Orphanet:402082 {source="MONDO:equivalentTo", source="OMIM:613832"}
xref: Orphanet:70595 {source="OMIM:607459", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1843851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375302"}
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0009637 {source="Orphanet:70595"} ! inborn mitochondrial myopathy
is_a: MONDO:0016798 {source="Orphanet:70595"} ! ataxia neuropathy spectrum
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
is_a: MONDO:0100033 ! metabolic epilepsy
relationship: excluded_subClassOf MONDO:0020074 {source="DC-OMIM:613832", source="Orphanet:402082", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20340 {source="MONDO:mim2gene_medgen"} ! PRICKLE2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011836
name: thyroid Hurthle cell carcinoma
subset: gard_rare {source="GARD:9428", source="MONDO:GARD"}
subset: rare
synonym: "follicular thyroid cancer, Hurthle cell type" RELATED [GARD:0009428]
synonym: "Hurthle cell thyroid cancer" RELATED [GARD:0009428]
synonym: "Hurthle cell thyroid neoplasia" RELATED [OMIM:607464]
synonym: "oncocytic carcinoma of the thyroid" RELATED [DOID:8161, NCIT:C4946]
synonym: "thyroid cancer, follicular, Hurthle cell type" RELATED [GARD:0009428]
synonym: "thyroid cancer, Hurthle cell" RELATED [GARD:0009428]
synonym: "thyroid carcinoma, Hurthle cell" RELATED [OMIM:607464]
xref: DOID:8161 {source="MONDO:equivalentTo"}
xref: GARD:9428 {source="MONDO:GARD"}
xref: MEDGEN:196672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536913 {source="DOID:8161", source="MONDO:equivalentTo"}
xref: NCIT:C4946 {source="MONDO:relatedTo", source="DOID:8161"}
xref: OMIM:607464 {source="DOID:8161", source="MONDO:equivalentTo"}
xref: ONCOTREE:THHC {source="MONDO:equivalentTo"}
xref: Orphanet:146 {source="OMIM:607464"}
xref: SCTID:423158009 {source="DOID:8161", source="MONDO:equivalentTo"}
xref: UMLS:C0749424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196672"}
is_a: MONDO:0005034 ! thyroid gland follicular carcinoma
is_a: MONDO:0015447 {source="Orphanet:146/btnt"} ! differentiated thyroid carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17194 {source="MONDO:mim2gene_medgen"} ! NDUFA13

[Term]
id: MONDO:0011837
name: vitamin K-dependent clotting factors, combined deficiency of, type 2
def: "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1" EXACT [MONDO:design_pattern]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, 2" EXACT [MONDO:Lexical, MONDORULE:1, OMIM:607473]
synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 2" EXACT CLINGEN_LABEL []
synonym: "VKCFD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607473]
synonym: "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112174 {source="MONDO:equivalentTo"}
xref: GARD:18196 {source="MONDO:GARD"}
xref: MEDGEN:334505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564393 {source="MONDO:equivalentTo"}
xref: OMIM:607473 {source="MONDO:equivalentTo"}
xref: UMLS:C1843832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334505"}
is_a: MONDO:0015722 {source="MONDO:Redundant", source="OMIM:607473"} ! congenital vitamin K-dependent coagulation factors deficiency
intersection_of: MONDO:0015722 ! congenital vitamin K-dependent coagulation factors deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23663 ! VKORC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23663 {source="MONDO:mim2gene_medgen"} ! VKORC1

[Term]
id: MONDO:0011838
name: Bothnia retinal dystrophy
def: "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted." [Orphanet:85128]
subset: gard_rare {source="GARD:16734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85128"}
subset: orphanet_rare {source="Orphanet:85128"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bothnia retinal dystrophy" EXACT [OMIM:607475]
synonym: "Vasterbotten dystrophy" EXACT [DOID:0050683, OMIM:607475]
synonym: "VC$sterbotten dystrophy" EXACT [Orphanet:85128]
synonym: "Västerbotten dystrophy" EXACT [Orphanet:85128]
xref: DOID:0050683 {source="MONDO:equivalentTo"}
xref: GARD:16734 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:85128", source="MONDO:directSiblingOf", source="Orphanet:85128/attributed", source="Orphanet:85128/ntbt"}
xref: MEDGEN:334499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564392 {source="MONDO:equivalentTo"}
xref: OMIM:607475 {source="DOID:0050683", source="MONDO:equivalentTo", source="Orphanet:85128", source="Orphanet:85128/e"}
xref: Orphanet:85128 {source="MONDO:equivalentTo", source="OMIM:607475"}
xref: SCTID:715647007 {source="MONDO:equivalentTo"}
xref: UMLS:C1843816 {source="MEDGEN:334499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="DOID:0050683", source="Orphanet:85128"} ! inherited retinal dystrophy
is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 {source="MONDO:mim2gene_medgen"} ! RLBP1

[Term]
id: MONDO:0011839
name: Newfoundland cone-rod dystrophy
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy caused by mutation in RLBP1" EXACT [MONDO:design_pattern]
synonym: "Newfoundland ROD-cone dystrophy" RELATED [MONDO:Lexical, OMIM:607476]
synonym: "NFRCD" EXACT ABBREVIATION [DOID:0111015, MONDO:Lexical, OMIM:607476]
synonym: "RLBP1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111015 {source="MONDO:equivalentTo"}
xref: MEDGEN:334840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564391 {source="MONDO:equivalentTo"}
xref: OMIM:607476 {source="MONDO:equivalentTo", source="DOID:0111015"}
xref: UMLS:C1843815 {source="MEDGEN:334840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:607476", source="DOID:0111015", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 ! RLBP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 {source="MONDO:mim2gene_medgen"} ! RLBP1

[Term]
id: MONDO:0011840
name: dilated cardiomyopathy 1M
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1M" RELATED [MONDO:Lexical, OMIM:607482]
synonym: "cardiomyopathy, dilated, type 1M" EXACT [MONDORULE:4, OMIM:607482]
synonym: "CMD1M" EXACT ABBREVIATION [DOID:0110449, MONDO:Lexical, OMIM:607482]
synonym: "CSRP3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dilated cardiomyopathy type 1M" EXACT [DOID:0110449, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern]
xref: DOID:0110449 {source="MONDO:equivalentTo"}
xref: GARD:15413 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110449"}
xref: MEDGEN:334498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564390 {source="MONDO:equivalentTo"}
xref: OMIM:607482 {source="DOID:0110449", source="MONDO:equivalentTo"}
xref: UMLS:C1843808 {source="MEDGEN:334498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:607482"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2472 {source="MONDO:mim2gene_medgen"} ! CSRP3

[Term]
id: MONDO:0011841
name: biotin-responsive basal ganglia disease
subset: gard_rare {source="GARD:10237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199348", source="Orphanet:65284"}
subset: orphanet_rare {source="Orphanet:199348", source="Orphanet:65284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basal ganglia disease, biotin-responsive" RELATED [OMIM:607483]
synonym: "BBGD" EXACT ABBREVIATION [Orphanet:65284]
synonym: "biotin-thiamine-responsive basal ganglia disease" EXACT [Orphanet:65284]
synonym: "BTBGD" EXACT ABBREVIATION [Orphanet:65284]
synonym: "encephalopathy, thiamine-responsive" RELATED [OMIM:607483]
synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" EXACT [OMIM:607483, OMIM:genemap2]
synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" RELATED [MONDO:Lexical, OMIM:607483]
synonym: "thiamine-responsive encephalopathy" EXACT [MONDO:0016050]
synonym: "THMD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607483]
xref: DOID:0050659 {source="MONDO:equivalentTo"}
xref: GARD:10237 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="Orphanet:65284", source="Orphanet:65284/attributed", source="Orphanet:65284/ntbt"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:375289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537658 {source="Orphanet:65284/e", source="MONDO:equivalentTo", source="Orphanet:65284"}
xref: OMIM:607483 {source="MONDO:equivalentTo", source="Orphanet:65284", source="DOID:0050659", source="Orphanet:65284/ntbt"}
xref: Orphanet:199348 {source="MONDO:equivalentTo"}
xref: Orphanet:65284 {source="MONDO:equivalentTo", source="OMIM:607483", source="MONDO:preferredExternal"}
xref: SCTID:703522009 {source="MONDO:equivalentTo"}
xref: SCTID:723557004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1843807 {source="MEDGEN:375289", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000152 {source="DC-OMIM:607483", source="OMIM:607483"} ! thiamine-responsive dysfunction syndrome
is_a: MONDO:0003996 {source="DOID:0050659", source="MESH:C537658", source="MONDO:Redundant"} ! basal ganglia disorder
is_a: MONDO:0005527 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! toxic encephalopathy
intersection_of: MONDO:0003996 ! basal ganglia disorder
intersection_of: disease_responds_to CHEBI:15956 ! biotin
relationship: disease_responds_to CHEBI:26948 ! vitamin B1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:199348", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16266 {source="MONDO:mim2gene_medgen"} ! SLC19A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4205" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011842
name: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
def: "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." [DOID:0060672, PMID:16862116, PMID:16983677]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aphasia, primary progressive" RELATED [OMIM:607485]
synonym: "dementia, hereditary dysphasic disinhibition" RELATED [OMIM:607485]
synonym: "frontotemporal dementia with TDP43 inclusions, GRN-related" RELATED [OMIM:607485]
synonym: "frontotemporal dementia, ubiquitin-positive" RELATED [OMIM:607485]
synonym: "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related" RELATED [OMIM:607485]
synonym: "frontotemporal lobar degeneration with ubiquitin-positive inclusions" RELATED [OMIM:607485]
synonym: "FTLD-TDP, GRN-related" RELATED [OMIM:607485]
xref: DOID:0060672 {source="MONDO:equivalentTo"}
xref: ICD10CM:G31.0 {source="DOID:0060672"}
xref: MEDGEN:375285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607485 {source="DOID:0060672", source="MONDO:equivalentTo"}
xref: Orphanet:100070 {source="OMIM:607485"}
xref: Orphanet:282 {source="DOID:0060672", source="OMIM:607485"}
xref: UMLS:C1843792 {source="MEDGEN:375285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017276 {source="DOID:0060672"} ! frontotemporal dementia
is_a: MONDO:0019806 ! primary progressive aphasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4601 {source="MONDO:mim2gene_medgen"} ! GRN

[Term]
id: MONDO:0011843
name: hypertrophic cardiomyopathy 25
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 25" EXACT [DOID:0110328]
synonym: "cardiomyopathy, familial hypertrophic, 25" RELATED [MONDO:Lexical, OMIM:607487]
synonym: "cardiomyopathy, familial hypertrophic, type 25" EXACT [MONDORULE:2, OMIM:607487]
synonym: "cardiomyopathy, hypertrophic, 25" EXACT [OMIM:607487, OMIM:genemap2]
synonym: "CMH25" EXACT ABBREVIATION [DOID:0110328, MONDO:Lexical, OMIM:607487]
synonym: "hypertrophic cardiomyopathy caused by mutation in TCAP" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 25" EXACT [DOID:0110328, MONDORULE:2]
synonym: "TCAP hypertrophic cardiomyopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Tcap hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern]
xref: DOID:0110328 {source="MONDO:equivalentTo"}
xref: MEDGEN:895360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564388 {source="MONDO:equivalentTo"}
xref: OMIM:607487 {source="DOID:0110328", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:607487"}
xref: UMLS:C4225408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895360"}
is_a: MONDO:0005021 {source="DC-OMIM:607487", source="MESH:C564388"} ! dilated cardiomyopathy
is_a: MONDO:0005045 {source="DOID:0110328", source="MONDO:Redundant", source="OMIM:607487"} ! hypertrophic cardiomyopathy
is_a: MONDO:0016192 ! qualitative or quantitative defects of telethonin
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:607487"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 ! TCAP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 {source="MONDO:mim2gene_medgen"} ! TCAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011844
name: myoclonic dystonia 15
def: "A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11." [DOID:0090035]
subset: gard_rare {source="GARD:9629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dystonia 15, myoclonic" RELATED [MONDO:Lexical, OMIM:607488]
synonym: "dystonia-15, myoclonic" EXACT [OMIM:607488, OMIM:genemap2]
synonym: "DYT15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607488]
synonym: "myoclonic dystonia type 15" EXACT [DOID:0090035, MONDORULE:2]
xref: DOID:0090035 {source="MONDO:equivalentTo"}
xref: GARD:9629 {source="MONDO:GARD"}
xref: MEDGEN:334492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538002 {source="MONDO:equivalentTo"}
xref: NANDO:1200528 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:607488 {source="MONDO:equivalentTo", source="DOID:0090035"}
xref: Orphanet:210566 {source="MONDO:equivalentObsolete", source="DOID:0090035", source="OMIM:607488"}
xref: UMLS:C1843786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334492"}
is_a: MONDO:0000903 {source="DOID:0090035"} ! myoclonus-dystonia syndrome
is_a: MONDO:0044807 {source="DOID:0090035/inferred", source="MESH:C538002/inferred", source="MONDO:Redundant", source="OMIM:607488"} ! inherited dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011845
name: migraine with or without aura, susceptibility to, 3
subset: predisposition
synonym: "MGR3" RELATED ABBREVIATION [OMIM:607498]
synonym: "migraine with or without aura, susceptibility to, 3" EXACT [OMIM:607498]
synonym: "migraine with or without aura, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:607498]
xref: MEDGEN:375283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607498 {source="MONDO:equivalentTo"}
xref: UMLS:C1843782 {source="MEDGEN:375283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 {source="DC-OMIM:607498", source="OMIM:607498/inferred"} ! migraine with or without aura, susceptibility to

[Term]
id: MONDO:0011846
name: bulimia nervosa, susceptibility to, 1
subset: predisposition
synonym: "anorexia nervosa, susceptibility to, 2" RELATED [OMIM:610269]
synonym: "BN" RELATED ABBREVIATION [OMIM:607499]
synonym: "bulimia nervosa, susceptibility to" BROAD [OMIM:607499, OMIM:genemap2]
synonym: "bulimia nervosa, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607499]
synonym: "bulimia nervosa, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:610269]
synonym: "bulimia nervosa, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:610269]
synonym: "BULN" RELATED ABBREVIATION [OMIM:607499]
synonym: "BULN1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607499]
synonym: "BULN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610269]
synonym: "susceptibility to bulimia nervosa 2" EXACT [OMIM:610269]
xref: MEDGEN:334832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607499 {source="MONDO:equivalentTo"}
xref: UMLS:C1843776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334832"}
intersection_of: MONDO:0020573 {source="MONDO:mim2gene_medgen"} ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1033 {source="MONDO:mim2gene_medgen"} ! BDNF
intersection_of: predisposes_towards MONDO:0005452 {source="MONDO:mim2gene_medgen"} ! bulimia nervosa
relationship: excluded_subClassOf MONDO:0005452 {source="DC-OMIM:607499", source="https://orcid.org/0000-0001-5208-3432"} ! bulimia nervosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1033 {source="MONDO:mim2gene_medgen"} ! BDNF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1705" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011847
name: migraine without aura, susceptibility to, 4
def: "An inherited susceptibility or predisposition to developing migraines without aura." [MONDO:patterns/inherited_susceptibility]
subset: predisposition
synonym: "common migraine" RELATED [DOID:12783]
synonym: "MGOA" RELATED ABBREVIATION [OMIM:607501]
synonym: "MGR4" EXACT ABBREVIATION [OMIM:607501]
synonym: "migraine without aura, susceptibility to, 4" EXACT [OMIM:607501]
synonym: "migraine without aura, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:607501]
xref: DOID:12783 {source="MONDO:relatedTo", source="EFO:0005296"}
xref: HP:0002083 {source="MONDO:otherHierarchy", source="EFO:0005296"}
xref: ICD10CM:G43.0 {source="DOID:12783"}
xref: ICD10CM:G43.009 {source="DOID:12783"}
xref: ICD9:346.1 {source="EFO:0005296", source="DOID:12783"}
xref: MEDGEN:336040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020326 {source="MONDO:relatedTo", source="EFO:0005296", source="DOID:12783"}
xref: NCIT:C117004 {source="MONDO:relatedTo", source="EFO:0005296", source="DOID:12783"}
xref: OMIM:607501 {source="MONDO:equivalentTo", source="DOID:12783"}
xref: SCTID:193027003 {source="DOID:12783"}
xref: SCTID:193029000 {source="DOID:12783"}
xref: SCTID:56097005 {source="MONDO:relatedTo", source="EFO:0005296", source="DOID:12783"}
xref: UMLS:C1843773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336040"}
is_a: MONDO:0100246 {source="DC-OMIM:607501", source="DOID:12783", source="EFO:0005296", source="MESH:D020326", source="NCIT:C117004"} ! migraine with or without aura, susceptibility to
relationship: predisposes_towards MONDO:0100431 {source="OMIM:607501"} ! migraine without aura
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3984" xsd:anyURI

[Term]
id: MONDO:0011848
name: headache associated with sexual activity
synonym: "benign sexual headache" RELATED [OMIM:607504]
synonym: "headache associated with sexual activity" EXACT [MONDO:Lexical, OMIM:607504]
synonym: "HSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607504]
xref: ICD10CM:G44.82 {source="MONDO:equivalentTo"}
xref: MEDGEN:95989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607504 {source="MONDO:equivalentTo"}
xref: UMLS:C0393754 {source="MEDGEN:95989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011849
name: psoriatic arthritis
def: "Joint inflammation associated with psoriasis." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
subset: predisposition
synonym: "arthritis psoriatica" EXACT [DOID:9008]
synonym: "arthropathic psoriasis" EXACT [DOID:9008]
synonym: "psoriatic arthritis, susceptibility to" RELATED [OMIM:607507]
synonym: "psoriatic arthritis, susceptibility to, 1" RELATED [OMIM:607507]
synonym: "psoriatic arthropathy" RELATED [DOID:9008]
synonym: "susceptibility to psoriatic arthritis" RELATED [OMIM:607507]
xref: DOID:9008 {source="MONDO:equivalentTo", source="EFO:0003778"}
xref: EFO:0003778 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:L40.5 {source="DOID:9008"}
xref: ICD10CM:L40.50 {source="DOID:9008"}
xref: ICD9:696.0 {source="DOID:9008"}
xref: MEDGEN:2077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015535 {source="DOID:9008", source="MONDO:equivalentTo", source="EFO:0003778"}
xref: NANDO:2201059 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61277 {source="DOID:9008", source="MONDO:equivalentTo", source="EFO:0003778"}
xref: OMIM:607507 {source="MONDO:relatedTo", source="EFO:0003778"}
xref: Orphanet:40050 {source="MONDO:equivalentObsolete", source="OMIM:607507"}
xref: SCTID:156370009 {source="DOID:9008", source="MONDO:equivalentTo"}
xref: SCTID:200959009 {source="DOID:9008"}
xref: SCTID:33339001 {source="DOID:9008"}
xref: UMLS:C0003872 {source="MEDGEN:2077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:9008"} ! syndromic disease
is_a: MONDO:0005046 {source="EFO:0003778", source="MONDO:Redundant", source="MONDO:indirect"} ! immune system disorder
is_a: MONDO:0005578 {source="MESH:D015535", source="MESH:D015535/inferred", source="NCIT:C61277"} ! arthritic joint disease
intersection_of: MONDO:0005578 ! arthritic joint disease
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
intersection_of: disease_has_major_feature MONDO:0005083 ! psoriasis
relationship: excluded_subClassOf MONDO:0020573 {source="OMIM:607507", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility

[Term]
id: MONDO:0011850
name: migraine with or without aura, susceptibility to, 5
subset: predisposition
synonym: "Mgr5" RELATED [OMIM:607508]
synonym: "migraine with or without aura, susceptibility to, 5" EXACT [OMIM:607508]
synonym: "migraine with or without aura, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:607508]
xref: MEDGEN:334831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607508 {source="MONDO:equivalentTo"}
xref: UMLS:C1843771 {source="MEDGEN:334831", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 {source="DC-OMIM:607508", source="OMIM:607508/inferred"} ! migraine with or without aura, susceptibility to

[Term]
id: MONDO:0011851
name: migraine with or without aura, susceptibility to, 6
subset: predisposition
synonym: "MGR6" RELATED ABBREVIATION [OMIM:607516]
synonym: "migraine with or without aura, susceptibility to, 6" EXACT [OMIM:607516]
synonym: "migraine with or without aura, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:607516]
synonym: "migraine, familial hemiplegic, 4" RELATED [OMIM:607516]
xref: MEDGEN:334829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564385 {source="MONDO:equivalentTo"}
xref: OMIM:607516 {source="MONDO:equivalentTo"}
xref: Orphanet:569 {source="MONDO:relatedTo", source="OMIM:607516"}
xref: UMLS:C1843765 {source="MEDGEN:334829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 {source="OMIM:607516"} ! migraine with or without aura, susceptibility to
relationship: excluded_subClassOf MONDO:0021146 {source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! headache disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015954"} ! rare

[Term]
id: MONDO:0011852
name: nonsyndromic congenital nail disorder 8
def: "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "COL7A1 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inherited isolated nail anomaly caused by mutation in COL7A1" EXACT [MONDO:design_pattern]
synonym: "nail disorder, nonsyndromic congenital, 8" RELATED [MONDO:Lexical, OMIM:607523]
synonym: "nail disorder, nonsyndromic congenital, type 8" EXACT [MONDORULE:1, OMIM:607523]
synonym: "NDNC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607523]
synonym: "nonsyndromic congenital nail disorder type 8" EXACT [DOID:0080086, MONDORULE:1]
synonym: "toenail dystrophy, isolated" RELATED [OMIM:607523]
xref: DOID:0080086 {source="MONDO:equivalentTo"}
xref: MEDGEN:375277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564384 {source="MONDO:equivalentTo"}
xref: OMIM:607523 {source="DOID:0080086", source="MONDO:equivalentTo"}
xref: UMLS:C1843761 {source="MONDO:equivalentTo", source="MEDGEN:375277", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0019284 {source="DC-OMIM:607523", source="MONDO:Redundant", source="OMIM:607523"} ! inherited isolated nail anomaly
intersection_of: MONDO:0019284 ! inherited isolated nail anomaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 ! COL7A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1

[Term]
id: MONDO:0011853
name: Camptosynpolydactyly, complex
subset: otar {source="MONDO:OTAR"}
synonym: "camptopolydactyly, disorganisation type" RELATED OMO:0003005 []
synonym: "camptopolydactyly, disorganization type" RELATED [OMIM:607539]
synonym: "camptosynpolydactyly, complex" EXACT [OMIM:607539]
synonym: "CCSPD" RELATED ABBREVIATION [OMIM:607539]
xref: MEDGEN:375276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564383 {source="MONDO:equivalentTo"}
xref: OMIM:607539 {source="MONDO:equivalentTo"}
xref: UMLS:C1843758 {source="MEDGEN:375276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/35126 {source="MONDO:mim2gene_medgen"} ! BHLHA9

[Term]
id: MONDO:0011854
name: secretory diarrhea, myopathy, and deafness
synonym: "secretory diarrhea, myopathy, and deafness" EXACT [OMIM:607540]
xref: MEDGEN:334488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564382 {source="MONDO:equivalentTo"}
xref: OMIM:607540 {source="MONDO:equivalentTo"}
xref: UMLS:C1843757 {source="MEDGEN:334488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011855
name: granular corneal dystrophy type II
def: "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." [Orphanet:98963]
subset: gard_rare {source="GARD:9278", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98963"}
subset: orphanet_rare {source="Orphanet:98963"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACD" RELATED ABBREVIATION [OMIM:607541]
synonym: "Avellino corneal dystrophy" EXACT [OMIM:607541, Orphanet:98963]
synonym: "avellino corneal dystrophy" EXACT [DOID:0060444]
synonym: "CDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607541]
synonym: "CGD2" EXACT ABBREVIATION [DOID:0060444]
synonym: "combined granular-lattice corneal dystrophies" RELATED [GARD:0009278]
synonym: "combined granular-lattice corneal dystrophy" EXACT [DOID:0060444, OMIM:607541]
synonym: "corneal dystrophy Avellino type" RELATED [GARD:0009278]
synonym: "corneal dystrophy, AVELLINO type" RELATED [MONDO:Lexical, OMIM:607541]
synonym: "GCD2" EXACT ABBREVIATION [Orphanet:98963]
synonym: "GCDII" EXACT ABBREVIATION [Orphanet:98963]
synonym: "granular and lattice corneal dystrophies" RELATED [GARD:0009278]
synonym: "granular corneal dystrophy type 2" EXACT [DOID:0060444, Orphanet:98963]
synonym: "granular corneal dystrophy, type 2" RELATED [OMIM:607541]
synonym: "granular-lattice (Avellino) corneal dystrophy" RELATED [GARD:0009278]
synonym: "granular-lattice corneal dystrophy" EXACT [Orphanet:98963]
xref: DOID:0060444 {source="MONDO:equivalentTo"}
xref: GARD:9278 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98963", source="Orphanet:98963/attributed", source="Orphanet:98963/ntbt"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535474 {source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="Orphanet:98963/e"}
xref: OMIM:607541 {source="Orphanet:98963", source="DOID:0060444", source="MONDO:equivalentTo", source="Orphanet:98963/e"}
xref: Orphanet:98963 {source="DOID:0060444", source="MONDO:equivalentTo", source="OMIM:607541"}
xref: SCTID:397568004 {source="DOID:0060444", source="MONDO:equivalentTo"}
xref: UMLS:C1275685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220900"}
is_a: MONDO:0000764 {source="DOID:0060444"} ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0020213 {source="Orphanet:98963"} ! stromal corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI

[Term]
id: MONDO:0011856
name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
subset: gard_rare {source="GARD:8719", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:168552"}
subset: orphanet_rare {source="Orphanet:168552"}
subset: rare
synonym: "SmD with bowed forearms and Facial Dysmorphism" RELATED [OMIM:607543]
synonym: "SmD with with bowed forearms and facial dysmorphism" RELATED [GARD:0008719]
synonym: "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" RELATED [OMIM:607543]
xref: DOID:0112305 {source="MONDO:equivalentTo"}
xref: GARD:8719 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:168552", source="Orphanet:168552/attributed", source="Orphanet:168552/ntbt"}
xref: MEDGEN:375263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535791 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"}
xref: OMIM:607543 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"}
xref: Orphanet:168552 {source="MONDO:equivalentTo", source="OMIM:607543"}
xref: UMLS:C1843706 {source="MEDGEN:375263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="Orphanet:168552"} ! spondylometaphyseal dysplasia

[Term]
id: MONDO:0011857
name: atrial fibrillation, familial, 3
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ATFB3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607554]
synonym: "atrial fibrillation, familial, 3" EXACT [MONDO:Lexical, OMIM:607554]
synonym: "atrial fibrillation, familial, type 3" EXACT [MONDORULE:1, OMIM:607554]
synonym: "familial atrial fibrillation caused by mutation in KCNQ1" EXACT [MONDO:design_pattern]
synonym: "KCNQ1 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15414 {source="MONDO:GARD"}
xref: MEDGEN:373232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563817 {source="MONDO:equivalentTo"}
xref: OMIM:607554 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:607554"}
xref: UMLS:C1837014 {source="MEDGEN:373232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:607554", source="MONDO:Redundant", source="OMIM:607554"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 ! KCNQ1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 {source="MONDO:mim2gene_medgen"} ! KCNQ1

[Term]
id: MONDO:0011858
name: spastic paraplegia, ataxia, and intellectual disability
synonym: "Spar" RELATED [OMIM:607565]
synonym: "spastic paraplegia, ataxia, and intellectual disability" EXACT [OMIM:607565]
synonym: "spastic paraplegia, ataxia, and mental retardation" EXACT DEPRECATED [OMIM:607565]
xref: MEDGEN:336010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564378 {source="MONDO:equivalentTo"}
xref: OMIM:607565 {source="MONDO:equivalentTo"}
xref: UMLS:C1843661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336010"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011859
name: obsolete distal myopathy with early respiratory muscle involvement
comment: Obsoleted in Orphanet.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2208" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011362

[Term]
id: MONDO:0011860
name: leprosy, susceptibility to, 2
subset: predisposition
synonym: "leprosy, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607572]
synonym: "LPRS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607572]
xref: MEDGEN:334455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607572 {source="MONDO:equivalentTo"}
xref: Orphanet:548 {source="OMIM:607572"}
xref: UMLS:C1843632 {source="MEDGEN:334455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:607572", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005124 {source="DC-OMIM:607572", source="https://orcid.org/0000-0001-5208-3432"} ! leprosy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8607 {source="MONDO:mim2gene_medgen"} ! PRKN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760" xsd:anyURI

[Term]
id: MONDO:0011861
name: breath-holding Spells
synonym: "Bhs" RELATED [OMIM:607578]
synonym: "breath-holding Spells" EXACT [OMIM:607578]
xref: MEDGEN:105400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607578 {source="MONDO:equivalentTo"}
xref: UMLS:C0476287 {source="MEDGEN:105400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011862
name: hereditary spastic paraplegia 24
def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14." [DOID:0110775, PMID:12499481]
subset: gard_rare {source="GARD:9296", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:101004"}
subset: orphanet_rare {source="Orphanet:101004"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 24" EXACT [DOID:0110775]
synonym: "autosomal recessive spastic paraplegia type 24" EXACT [DOID:0110775]
synonym: "hereditary spastic paraplegia type 24" EXACT [DOID:0110775, MONDORULE:2]
synonym: "spastic paraplegia 24" RELATED [GARD:0009296]
synonym: "spastic paraplegia 24, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607584]
synonym: "SPG24" EXACT ABBREVIATION [DOID:0110775, MONDO:Lexical, OMIM:607584, Orphanet:101004]
xref: DOID:0110775 {source="MONDO:equivalentTo"}
xref: GARD:9296 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:101004/attributed", source="Orphanet:101004/ntbt", source="DOID:0110775", source="Orphanet:101004"}
xref: MEDGEN:334784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564375 {source="MONDO:equivalentTo"}
xref: OMIM:607584 {source="DOID:0110775", source="Orphanet:101004", source="MONDO:equivalentTo", source="Orphanet:101004/e"}
xref: Orphanet:101004 {source="DOID:0110775", source="MONDO:equivalentTo", source="OMIM:607584"}
xref: UMLS:C1843569 {source="MEDGEN:334784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110775", source="MONDO:Redundant", source="OMIM:607584", source="Orphanet:101004/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0011863
name: prostate cancer aggressiveness quantitative trait locus on chromosome 19
synonym: "HPCqtl19" RELATED [OMIM:607592]
synonym: "prostate cancer aggressiveness QTL" EXACT [OMIM:607592, OMIM:genemap2]
synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome 19" EXACT [OMIM:607592]
synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome type 19" EXACT [MONDORULE:2, OMIM:607592]
xref: MEDGEN:334432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607592 {source="MONDO:equivalentTo"}
xref: UMLS:C1843533 {source="MEDGEN:334432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011864
name: immunodeficiency, common variable, 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "antibody deficiency due to Icos defect" RELATED [OMIM:607594]
synonym: "CVID1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607594]
synonym: "immunodeficiency, common variable" RELATED [OMIM:607594]
synonym: "immunodeficiency, common variable, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607594]
synonym: "immunodeficiency, common variable, type 1" EXACT [MONDORULE:1, OMIM:607594]
xref: DOID:0081144 {source="MONDO:equivalentTo"}
xref: MEDGEN:460728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607594 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:607594"}
xref: UMLS:C3149378 {source="MEDGEN:460728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015517 {source="DC-OMIM:607594", source="OMIM:607594"} ! common variable immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5351 {source="MONDO:mim2gene_medgen"} ! ICOS

[Term]
id: MONDO:0011865
name: obsolete COL4A1-related familial vascular leukoencephalopathy
def: "OBSOLETE. A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34." [DOID:0090125]
is_obsolete: true
replaced_by: MONDO:0008289

[Term]
id: MONDO:0011866
name: pontocerebellar hypoplasia type 1A
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15416", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1" EXACT [MONDO:design_pattern]
synonym: "Pch1" RELATED [OMIM:607596]
synonym: "PCH1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607596]
synonym: "pontocerebellar hypoplasia with anterior horn cell disease" RELATED [OMIM:607596]
synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" RELATED [OMIM:607596]
synonym: "pontocerebellar hypoplasia, type 1A" RELATED [MONDO:Lexical, OMIM:607596]
synonym: "VRK1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060265 {source="MONDO:equivalentTo"}
xref: GARD:15416 {source="MONDO:GARD"}
xref: MEDGEN:335969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607596 {source="DOID:0060265", source="MONDO:equivalentTo"}
xref: Orphanet:2254 {source="DOID:0060265", source="OMIM:607596"}
xref: UMLS:C1843504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335969"}
is_a: MONDO:0016396 {source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1
is_a: MONDO:0020135 {source="DOID:0060265", source="MONDO:Redundant", source="OMIM:607596"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12718 ! VRK1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12718 {source="MONDO:mim2gene_medgen"} ! VRK1

[Term]
id: MONDO:0011867
name: microphthalmia with cyst, bilateral facial clefts, and limb anomalies
synonym: "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" EXACT [OMIM:607597]
xref: MEDGEN:375210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564370 {source="MONDO:equivalentTo"}
xref: OMIM:607597 {source="MONDO:equivalentTo"}
xref: UMLS:C1843492 {source="MEDGEN:375210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011868
name: lethal congenital contracture syndrome 2
def: "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." [Orphanet:137776]
subset: gard_rare {source="GARD:9177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137776"}
subset: ordo_malformation_syndrome {source="Orphanet:137776"}
subset: orphanet_rare {source="Orphanet:137776"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ERBB3 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS2" EXACT ABBREVIATION [DOID:0060560, MONDO:Lexical, OMIM:607598, Orphanet:137776]
synonym: "lethal congenital contractural syndrome 2" EXACT [OMIM:607598, OMIM:genemap2]
synonym: "lethal congenital contracture syndrome 2" EXACT [MONDO:Lexical, OMIM:607598]
synonym: "lethal congenital contracture syndrome caused by mutation in ERBB3" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 2" EXACT [DOID:0060560, MONDORULE:1, OMIM:607598]
synonym: "multiple contracture syndrome, Israeli Bedouin type" RELATED [GARD:0009177]
synonym: "multiple contracture syndrome, Israeli Bedouin type a" RELATED [OMIM:607598]
synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [DOID:0060560, Orphanet:137776]
xref: DOID:0060560 {source="MONDO:equivalentTo"}
xref: GARD:9177 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="DOID:0060560", source="Orphanet:137776", source="Orphanet:137776/attributed", source="Orphanet:137776/ntbt"}
xref: MEDGEN:334413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564369 {source="DOID:0060560", source="MONDO:equivalentTo"}
xref: OMIM:607598 {source="DOID:0060560", source="Orphanet:137776", source="MONDO:equivalentTo", source="Orphanet:137776/e"}
xref: Orphanet:137776 {source="MONDO:equivalentTo", source="OMIM:607598"}
xref: Orphanet:137783 {source="DOID:0060560", source="MONDO:directSiblingOf"}
xref: SCTID:715419004 {source="MONDO:equivalentTo"}
xref: UMLS:C1843478 {source="MEDGEN:334413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:137776"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0017436 {source="DC-OMIM:607598", source="DOID:0060560", source="MONDO:Redundant", source="OMIM:607598", source="Orphanet:137776"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3431 ! ERBB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3431 {source="MONDO:mim2gene_medgen"} ! ERBB3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2" xsd:anyURI {source="GARD:0009177"}

[Term]
id: MONDO:0011869
name: epidermolysis bullosa simplex superficialis
def: "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters." [Orphanet:89839]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607600, Orphanet:89839]
synonym: "epidermolysis bullosa simplex superficialis" EXACT [MONDO:Lexical, OMIM:607600]
xref: ICD10CM:Q81.0 {source="Orphanet:89839", source="Orphanet:89839/attributed", source="Orphanet:89839/ntbt"}
xref: MEDGEN:334412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564368 {source="MONDO:equivalentTo"}
xref: OMIM:607600 {source="MONDO:equivalentTo", source="Orphanet:89839", source="Orphanet:89839/e"}
xref: Orphanet:89839 {source="OMIM:607600", source="MONDO:equivalentObsolete"}
xref: UMLS:C1843477 {source="MONDO:equivalentTo", source="MEDGEN:334412", source="MONDO:MEDGEN"}
is_a: MONDO:0015550 {source="Orphanet:89839"} ! suprabasal epidermolysis bullosa simplex

[Term]
id: MONDO:0011870
name: annular epidermolytic ichthyosis
def: "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." [Orphanet:281139]
subset: gard_rare {source="GARD:17304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:281139"}
subset: orphanet_rare {source="Orphanet:281139"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AEI" EXACT ABBREVIATION [Orphanet:281139]
synonym: "Ciehk" RELATED [OMIM:607602]
synonym: "epidermolytic ichthyosis, annular" RELATED [OMIM:607602]
synonym: "ichthyosis, annular epidermolytic" EXACT [OMIMPS:607602]
synonym: "ichthyosis, cyclic, with epidermolytic hyperkeratosis" RELATED [OMIM:607602]
xref: GARD:17304 {source="MONDO:GARD"}
xref: ICD10CM:Q80.3 {source="Orphanet:281139/attributed", source="Orphanet:281139/ntbt", source="Orphanet:281139"}
xref: MEDGEN:334410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564367 {source="MONDO:equivalentTo"}
xref: OMIMPS:607602 {source="MONDO:equivalentTo"}
xref: Orphanet:281139 {source="OMIM:607602", source="MONDO:equivalentTo"}
xref: Orphanet:312 {source="OMIM:607602"}
xref: SCTID:718631006 {source="MONDO:equivalentTo"}
xref: UMLS:C1843463 {source="MEDGEN:334410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007239 {source="MESH:C564367", source="Orphanet:312/btnt"} ! epidermolytic ichthyosis
is_a: MONDO:0017266 {source="Orphanet:281139"} ! keratinopathic ichthyosis
relationship: has_characteristic HP:0000006 {source="Orphanet:281139"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607602"} ! inherited

[Term]
id: MONDO:0011871
name: Niemann-Pick disease type B
def: "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" [Orphanet:77293]
subset: gard_rare {source="GARD:10729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:77293"}
subset: orphanet_rare {source="Orphanet:77293"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Niemann Pick disease type B" RELATED [GARD:0010729]
synonym: "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression" RELATED [OMIM:607616]
synonym: "Niemann-PICK disease, type B" RELATED [OMIM:607616]
synonym: "Niemann-Pick disease, type E" RELATED [OMIM:607616]
synonym: "Niemann-Pick disease, type F" RELATED [OMIM:607616]
synonym: "type B Niemann-Pick disease" EXACT [NCIT:C126866]
xref: DOID:0070112 {source="MONDO:equivalentTo"}
xref: GARD:10729 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:77293/inclusion", source="DOID:0070112", source="Orphanet:77293", source="Orphanet:77293/ntbt"}
xref: ICD10CM:E75.241 {source="MONDO:equivalentTo"}
xref: MEDGEN:78651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052537 {source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"}
xref: NANDO:1200062 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201207 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126866 {source="MONDO:equivalentTo"}
xref: OMIM:607616 {source="DOID:0070112", source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"}
xref: Orphanet:77293 {source="OMIM:607616", source="MONDO:equivalentTo"}
xref: Orphanet:99022 {source="OMIM:607616", source="MONDO:directSiblingOf"}
xref: SCTID:39390005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78651"}
is_a: MONDO:0017014 ! interstitial lung disease specific to childhood
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0100464 {source="https://clinicalgenome.org/affiliation/40110/"} ! acid sphingomyelinase deficiency
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:607616", source="Orphanet:77293"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11120 {source="MONDO:mim2gene_medgen"} ! SMPD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4984" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b" xsd:anyURI {source="GARD:0010729"}

[Term]
id: MONDO:0011872
name: Griscelli syndrome type 2
def: "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." [https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4483", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79477"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Griscelli disease type 2" RELATED [Orphanet:79477]
synonym: "Griscelli syndrome type 2" EXACT CLINGEN_LABEL []
synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT [DOID:0060833]
synonym: "Griscelli syndrome, type 2" RELATED [MONDO:Lexical, OMIM:607624]
synonym: "Griscelli-PruniC)ras syndrome type 2" EXACT [Orphanet:79477]
synonym: "Griscelli-Pruniéras syndrome type 2" EXACT [DOID:0060833]
synonym: "Griscelli-Pruni��ras syndrome type 2" EXACT [DOID:0060833]
synonym: "GS2" EXACT ABBREVIATION [DOID:0060833, MONDO:Lexical, OMIM:607624]
synonym: "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT [DOID:0060833, Orphanet:79477]
synonym: "PAID syndrome" EXACT [DOID:0060833]
synonym: "Paid syndrome" RELATED [OMIM:607624]
synonym: "partial albinism and immunodeficiency syndrome" EXACT [DOID:0060833, OMIM:607624]
xref: DOID:0060833 {source="MONDO:equivalentTo"}
xref: GARD:4483 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79477/attributed", source="Orphanet:79477/ntbt", source="DOID:0060833", source="Orphanet:79477"}
xref: MEDGEN:357030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537302 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"}
xref: NANDO:2200732 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C111814 {source="MONDO:equivalentTo"}
xref: OMIM:607624 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"}
xref: Orphanet:381 {source="OMIM:607624"}
xref: Orphanet:79477 {source="OMIM:607624", source="MONDO:equivalentTo", source="DOID:0060833"}
xref: UMLS:C1868679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357030"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C111814"} ! syndromic disease
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0005093 ! skin disorder
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis
is_a: MONDO:0018306 {source="DC-OMIM:607624", source="DOID:0060833", source="MONDO:Redundant", source="OMIM:607624", source="Orphanet:79477"} ! Griscelli syndrome
intersection_of: MONDO:0018306 ! Griscelli syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9766 ! RAB27A
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9766 {source="MONDO:mim2gene_medgen"} ! RAB27A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2" xsd:anyURI {source="GARD:0004483"}

[Term]
id: MONDO:0011873
name: Niemann-Pick disease, type C2
def: "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3992", source="MONDO:GARD"}
subset: rare
synonym: "Niemann-Pick disease type C2" RELATED [GARD:0003992]
synonym: "Niemann-PICK disease, type C2" RELATED [OMIM:607625]
synonym: "Niemann-Pick disease, type C2" EXACT [MONDO:Lexical, OMIM:607625]
synonym: "NPC2" EXACT ABBREVIATION [DOID:0070114, MONDO:Lexical, OMIM:607625]
synonym: "type C2 Niemann-Pick disease" EXACT [NCIT:C126865]
xref: DOID:0070114 {source="MONDO:equivalentTo"}
xref: GARD:3992 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="DOID:0070114"}
xref: MEDGEN:335942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536119 {source="MONDO:equivalentTo"}
xref: NCIT:C126865 {source="MONDO:equivalentTo"}
xref: OMIM:607625 {source="MONDO:equivalentTo", source="DOID:0070114"}
xref: Orphanet:646 {source="OMIM:607625"}
xref: UMLS:C1843366 {source="MEDGEN:335942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001982 {source="DOID:0070114", source="MESH:C536119/inferred", source="NCIT:C126865/inferred"} ! Niemann-Pick disease
is_a: MONDO:0018982 {source="MESH:C536119", source="Orphanet:646/btnt"} ! Niemann-Pick disease type C
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:607625"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14537 {source="MONDO:mim2gene_medgen"} ! NPC2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2" xsd:anyURI {source="GARD:0003992"}

[Term]
id: MONDO:0011874
name: neonatal ichthyosis-sclerosing cholangitis syndrome
def: "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis." [Orphanet:59303]
subset: gard_rare {source="GARD:10583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:59303"}
subset: orphanet_rare {source="Orphanet:59303"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" RELATED [OMIM:607626]
synonym: "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" EXACT [Orphanet:59303]
synonym: "ichthyosis-sclerosing cholangitis syndrome" RELATED [OMIM:607626]
synonym: "IHSC" EXACT ABBREVIATION [Orphanet:59303]
synonym: "ILVASC" RELATED ABBREVIATION [OMIM:607626]
synonym: "Ilvasc" RELATED [OMIM:607626]
synonym: "neonatal ichthyosis-sclerosing cholangitis syndrome" EXACT [OMIM:607626]
synonym: "NISCH syndrome" EXACT [Orphanet:59303]
synonym: "Nisch syndrome" RELATED [OMIM:607626]
xref: GARD:10583 {source="MONDO:GARD"}
xref: MEDGEN:334382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564365 {source="MONDO:equivalentTo"}
xref: OMIM:607626 {source="Orphanet:59303/e", source="MONDO:equivalentTo", source="Orphanet:59303"}
xref: Orphanet:59303 {source="OMIM:607626", source="MONDO:equivalentTo"}
xref: SCTID:724278007 {source="MONDO:equivalentTo"}
xref: UMLS:C1843355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334382"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015947 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited ichthyosis
is_a: MONDO:0018646 {source="Orphanet:59303"} ! sclerosing cholangitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2032 {source="MONDO:mim2gene_medgen"} ! CLDN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0011875
name: epilepsy, idiopathic generalized, susceptibility to, 11
def: "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
subset: predisposition
synonym: "CLCN2 generalised epilepsy" EXACT OMO:0003005 []
synonym: "CLCN2 generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EIG11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607628]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:607628]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:607628]
synonym: "epilepsy, juvenile absence, susceptibility to, 2" RELATED [OMIM:607628]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 8" RELATED [OMIM:607628]
synonym: "generalised epilepsy caused by mutation in CLCN2" EXACT OMO:0003005 []
synonym: "generalized epilepsy caused by mutation in CLCN2" EXACT [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalised epilepsy 11" RELATED OMO:0003005 []
synonym: "susceptibility to idiopathic generalized epilepsy 11" RELATED [OMIM:607628]
xref: DOID:0111312 {source="MONDO:equivalentTo"}
xref: MEDGEN:416407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607628 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="OMIM:607628"}
xref: UMLS:C2750893 {source="MEDGEN:416407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:1030001 ! epilepsy, juvenile absence, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2020 ! CLCN2
intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic generalized
relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:607628", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: excluded_subClassOf MONDO:0009696 {source="OMIM:607628", source="https://orcid.org/0000-0001-5208-3432"} ! juvenile myoclonic epilepsy
relationship: excluded_subClassOf MONDO:0011876 {source="OMIM:607628", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete juvenile absence epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2020 {source="MONDO:mim2gene_medgen"} ! CLCN2
relationship: predisposes_towards MONDO:0005579 {source="OMIM:607628"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0011876
name: obsolete juvenile absence epilepsy
subset: otar {source="MONDO:OTAR"}
xref: GARD:2162 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6897" xsd:anyURI
is_obsolete: true
consider: MONDO:0020772
consider: MONDO:0800453

[Term]
id: MONDO:0011877
name: autosomal dominant osteopetrosis 1
def: "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." [Orphanet:2783]
subset: gard_rare {source="GARD:4151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2783"}
subset: ordo_malformation_syndrome {source="Orphanet:2783"}
subset: orphanet_rare {source="Orphanet:2783"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant osteopetrosis type 1" EXACT [DOID:0110937, MONDORULE:1]
synonym: "LRP5 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "OPTA1" EXACT ABBREVIATION [DOID:0110937, MONDO:Lexical, OMIM:607634]
synonym: "osteopetrosis (disease) caused by mutation in LRP5" EXACT []
synonym: "osteopetrosis autosomal dominant type 1" RELATED [GARD:0004151]
synonym: "osteopetrosis, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:607634]
synonym: "osteopetrosis, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:607634]
synonym: "osteopetrosis, autosomal dominant, type 1" RELATED [OMIM:607634]
xref: DOID:0110937 {source="MONDO:equivalentTo"}
xref: GARD:4151 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:2783/ntbt", source="Orphanet:2783", source="DOID:0110937", source="Orphanet:2783/inclusion"}
xref: MEDGEN:335932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536056 {source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="Orphanet:2783/e"}
xref: OMIM:607634 {source="Orphanet:2783", source="MONDO:equivalentTo", source="DOID:0110937", source="Orphanet:2783/e"}
xref: Orphanet:2783 {source="OMIM:607634", source="MONDO:equivalentTo", source="DOID:0110937"}
xref: UMLS:C1843330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335932"}
is_a: MONDO:0017198 {source="DC-OMIM:607634", source="DOID:0110937", source="MONDO:Redundant", source="OMIM:607634", source="Orphanet:2783"} ! osteopetrosis
intersection_of: MONDO:0017198 ! osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 ! LRP5
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5

[Term]
id: MONDO:0011878
name: obsolete Worth syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4533" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007764

[Term]
id: MONDO:0011879
name: neuronopathy, distal hereditary motor, type 7B
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18270", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DCTN1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Dhmn7B" RELATED [OMIM:607641]
synonym: "HMN 7B" RELATED [OMIM:607641]
synonym: "HMN7B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607641]
synonym: "Lower motor neuron disease, dynactin type" RELATED [OMIM:607641]
synonym: "neuronopathy, distal hereditary motor caused by mutation in DCTN1" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type VIIB" RELATED [MONDO:Lexical, OMIM:607641]
synonym: "neuropathy, distal hereditary motor, type 7B" RELATED [OMIM:607641]
synonym: "neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B" RELATED [OMIM:607641]
xref: DOID:0111202 {source="MONDO:equivalentTo"}
xref: GARD:18270 {source="MONDO:GARD"}
xref: MEDGEN:375157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564362 {source="MONDO:equivalentTo"}
xref: OMIM:607641 {source="MONDO:equivalentTo"}
xref: Orphanet:139589 {source="OMIM:607641"}
xref: UMLS:C1843315 {source="MEDGEN:375157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015355 {source="Orphanet:139589/btnt"} ! distal hereditary motor neuropathy type 7
is_a: MONDO:0018894 {source="DC-OMIM:607641", source="MONDO:Redundant"} ! distal hereditary motor neuropathy
intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2711 ! DCTN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2711 {source="MONDO:mim2gene_medgen"} ! DCTN1

[Term]
id: MONDO:0011880
name: candidiasis, familial, 3
subset: gard_rare {source="GARD:15418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CANDF3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607644]
synonym: "candidiasis, familial chronic nail, with Icam1 deficiency" RELATED [OMIM:607644]
synonym: "candidiasis, familial, 3" EXACT [MONDO:Lexical, OMIM:607644]
synonym: "Fcnc" RELATED [OMIM:607644]
xref: GARD:15418 {source="MONDO:GARD"}
xref: MEDGEN:335927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564361 {source="MONDO:equivalentTo"}
xref: OMIM:607644 {source="MONDO:equivalentTo"}
xref: UMLS:C1843306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335927"}
is_a: MONDO:0015279 {source="OMIM:607644"} ! chronic mucocutaneous candidiasis

[Term]
id: MONDO:0011881
name: keratosis palmoplantaris striata 3
def: "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9173", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoderma palmoplantar striate form 3" RELATED [GARD:0009173]
synonym: "keratoderma, palmoplantar, striate form 3" RELATED [OMIM:607654]
synonym: "keratosis palmoplantaris striata III" RELATED [MONDO:Lexical, OMIM:607654]
synonym: "keratosis palmoplantaris striata type 3" EXACT [MONDORULE:1, OMIM:607654]
synonym: "KRT1 striate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PPKS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607654]
synonym: "striate palmoplantar keratoderma 3" RELATED [OMIM:607654]
synonym: "striate palmoplantar keratoderma caused by mutation in KRT1" EXACT [MONDO:design_pattern]
xref: DOID:0081110 {source="MONDO:equivalentTo"}
xref: GARD:9173 {source="MONDO:GARD"}
xref: MEDGEN:418996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536163 {source="MONDO:equivalentTo"}
xref: OMIM:607654 {source="MONDO:equivalentTo"}
xref: Orphanet:50942 {source="OMIM:607654"}
xref: UMLS:C2931123 {source="MEDGEN:418996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018865 {source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma
intersection_of: MONDO:0018865 ! striate palmoplantar keratoderma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 ! KRT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 {source="MONDO:mim2gene_medgen"} ! KRT1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3" xsd:anyURI {source="GARD:0009173"}

[Term]
id: MONDO:0011882
name: skin fragility-woolly hair-palmoplantar keratoderma syndrome
subset: gard_rare {source="GARD:5231", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293165"}
subset: orphanet_rare {source="Orphanet:293165"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SFWHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607655]
synonym: "skin fragility woolly hair syndrome" RELATED OMO:0003005 []
synonym: "skin fragility wooly hair syndrome" RELATED [GARD:0005231]
synonym: "skin fragility-woolly hair syndrome" RELATED [MONDO:Lexical, OMIM:607655]
synonym: "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:293165]
xref: GARD:5231 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:293165", source="Orphanet:293165/attributed", source="Orphanet:293165/ntbt"}
xref: MEDGEN:1659950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564359 {source="MONDO:equivalentTo"}
xref: OMIM:607655 {source="MONDO:equivalentObsolete", source="Orphanet:293165", source="Orphanet:293165/e"}
xref: Orphanet:293165 {source="OMIM:607655", source="MONDO:equivalentTo"}
xref: UMLS:C4755263 {source="MEDGEN:1659950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:607655", source="Orphanet:293165"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome" xsd:anyURI {source="GARD:0005231"}

[Term]
id: MONDO:0011883
name: Curly hair - acral keratoderma - caries syndrome
def: "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." [Orphanet:307766]
subset: gard_rare {source="GARD:10163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:307766"}
subset: orphanet_rare {source="Orphanet:307766"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chac syndrome" EXACT [Orphanet:307766]
synonym: "CHACS" EXACT ABBREVIATION [Orphanet:307766]
synonym: "Chacs" RELATED [OMIM:607656]
synonym: "Curly hair - acral keratoderma - caries syndrome" EXACT [OMIM:607656]
xref: GARD:10163 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:307766/attributed", source="Orphanet:307766/ntbt", source="Orphanet:307766"}
xref: MEDGEN:335923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536220 {source="MONDO:equivalentTo"}
xref: OMIM:607656 {source="Orphanet:307766/e", source="MONDO:equivalentTo", source="Orphanet:307766"}
xref: Orphanet:307766 {source="OMIM:607656", source="MONDO:equivalentTo"}
xref: UMLS:C1843291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335923"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="Orphanet:307766"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome" xsd:anyURI {source="GARD:0010163"}

[Term]
id: MONDO:0011884
name: hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
def: "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." [Orphanet:307936]
subset: gard_rare {source="GARD:17384", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:307936"}
subset: orphanet_rare {source="Orphanet:307936"}
subset: rare
synonym: "HOPP syndrome" EXACT [Orphanet:307936]
synonym: "Hopp syndrome" RELATED [OMIM:607658]
synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:307936]
synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" EXACT [OMIM:607658]
synonym: "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936]
synonym: "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936]
xref: GARD:17384 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:307936/attributed", source="Orphanet:307936/ntbt", source="Orphanet:307936"}
xref: MEDGEN:375146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564357 {source="MONDO:equivalentTo"}
xref: OMIM:607658 {source="Orphanet:307936", source="MONDO:equivalentTo", source="Orphanet:307936/e"}
xref: Orphanet:307936 {source="OMIM:607658", source="MONDO:equivalentTo"}
xref: SCTID:763658004 {source="MONDO:equivalentTo"}
xref: UMLS:C1843285 {source="MEDGEN:375146", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma
is_a: MONDO:0019287 {source="Orphanet:307936"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0011885
name: tubulointerstitial nephritis and uveitis syndrome
def: "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis." [NCIT:P378]
subset: gard_rare {source="GARD:9252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91500"}
subset: orphanet_rare {source="Orphanet:91500"}
subset: rare
synonym: "acute Tubulointerstitial nephritis" RELATED [OMIM:607665]
synonym: "acute tubulointerstitial nephritis and uveitis syndrome" EXACT [Orphanet:91500]
synonym: "Dobrin syndrome" EXACT [Orphanet:91500]
synonym: "TINU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607665]
synonym: "TINU syndrome" EXACT [Orphanet:91500]
synonym: "Tubulointerstitial nephritis and uveitis" EXACT [NCIT:C123021]
synonym: "TUBULOINTERSTITIAL nephritis with uveitis" RELATED [MONDO:Lexical, OMIM:607665]
xref: GARD:9252 {source="MONDO:GARD"}
xref: ICD10CM:N10 {source="MONDO:relatedTo", source="Orphanet:91500", source="Orphanet:91500/ntbt"}
xref: MedDRA:10069034 {source="Orphanet:91500", source="Orphanet:91500/e"}
xref: MedDRA:10069039 {source="Orphanet:91500", source="Orphanet:91500/e"}
xref: MEDGEN:334715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536922 {source="MONDO:equivalentTo", source="Orphanet:91500", source="Orphanet:91500/e"}
xref: NCIT:C123021 {source="MONDO:equivalentTo"}
xref: OMIM:607665 {source="MONDO:equivalentTo", source="Orphanet:91500", source="Orphanet:91500/e"}
xref: Orphanet:91500 {source="MONDO:equivalentTo", source="OMIM:607665"}
xref: UMLS:C1843273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334715"}
is_a: MONDO:0002254 {source="NCIT:C123021"} ! syndromic disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder

[Term]
id: MONDO:0011886
name: torsion dystonia 13
def: "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." [Orphanet:98807]
subset: gard_rare {source="GARD:10537", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98807"}
subset: orphanet_rare {source="Orphanet:98807"}
subset: rare
synonym: "dystonia 13, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607671]
synonym: "DYT13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607671, Orphanet:98807]
synonym: "primary dystonia with mixed phenotype" EXACT [Orphanet:98807]
synonym: "primary dystonia, DYT13 type" RELATED [Orphanet:98807]
synonym: "primary torsion dystonia with predominant craniocervical or upper limb onset" EXACT [Orphanet:98807]
synonym: "torsion dystonia type 13" EXACT [DOID:0090037, MONDORULE:2]
xref: DOID:0090037 {source="MONDO:equivalentTo"}
xref: GARD:10537 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:98807/attributed", source="Orphanet:98807/ntbt", source="DOID:0090037", source="Orphanet:98807"}
xref: MEDGEN:335918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564354 {source="MONDO:equivalentTo"}
xref: NANDO:1200527 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:607671 {source="Orphanet:98807/e", source="MONDO:equivalentTo", source="DOID:0090037", source="Orphanet:98807"}
xref: Orphanet:98807 {source="MONDO:equivalentTo", source="DOID:0090037", source="OMIM:607671"}
xref: SCTID:719278006 {source="MONDO:equivalentTo"}
xref: UMLS:C1843264 {source="MEDGEN:335918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015990 {source="Orphanet:98807"} ! focal, segmental or multifocal dystonia
is_a: MONDO:0044807 {source="DOID:0090037", source="MONDO:Redundant", source="OMIM:607671"} ! inherited dystonia

[Term]
id: MONDO:0011887
name: cataract, congenital, with mental impairment and dentate gyrus atrophy
synonym: "cataract, congenital, with mental impairment and dentate gyrus atrophy" EXACT [OMIM:607674]
xref: MEDGEN:334365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564353 {source="MONDO:equivalentTo"}
xref: OMIM:607674 {source="MONDO:equivalentTo"}
xref: UMLS:C1843257 {source="MEDGEN:334365", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011888
name: immunodeficiency 67
def: "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." [Orphanet:70592]
subset: gard_rare {source="GARD:10311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70592"}
subset: orphanet_rare {source="Orphanet:70592"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunodeficiency 67" EXACT CLINGEN_LABEL []
synonym: "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" EXACT [Orphanet:70592]
synonym: "Interleukin receptor-associated kinase deficiency" RELATED [GARD:0010311]
synonym: "invasive pneumococcal disease, protection against" RELATED [OMIM:610799]
synonym: "invasive pneumococcal disease, recurrent isolated, 1" EXACT [MONDO:Lexical, OMIM:610799]
synonym: "invasive pneumococcal disease, recurrent isolated, type 1" EXACT [MONDORULE:1, OMIM:610799]
synonym: "IPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610799]
synonym: "IRAK-4 deficiency" RELATED [GARD:0010311]
synonym: "IRAK4 deficiency" EXACT [OMIM:607676, Orphanet:70592]
synonym: "IRAK4D" RELATED ABBREVIATION [OMIM:607676]
xref: GARD:10311 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:70592", source="Orphanet:70592/attributed", source="Orphanet:70592/ntbt"}
xref: MEDGEN:375137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563662 {source="MONDO:equivalentObsolete"}
xref: MESH:C564352 {source="MONDO:equivalentTo"}
xref: NANDO:1200361 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200762 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:607676 {source="Orphanet:70592", source="MONDO:equivalentTo", source="Orphanet:70592/e"}
xref: Orphanet:70592 {source="MONDO:equivalentTo", source="OMIM:607676"}
xref: UMLS:C1843256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375137"}
is_a: MONDO:0021094 {source="OMIM:607676"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17967 {source="MONDO:mim2gene_medgen"} ! IRAK4

[Term]
id: MONDO:0011889
name: Charcot-Marie-Tooth disease type 2I
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." [Orphanet:99942]
subset: gard_rare {source="GARD:9197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99942"}
subset: orphanet_rare {source="Orphanet:99942"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2I" RELATED [Orphanet:99942]
synonym: "Charcot Marie Tooth disease type 2I" RELATED [GARD:0009197]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2I" RELATED [GARD:0009197, MONDO:Lexical, OMIM:607677]
synonym: "Charcot-Marie-Tooth disease, type 2I" EXACT [OMIM:607677, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2I" EXACT [DOID:0110158]
synonym: "Charcot-Marie-Tooth neuropathy, type 2I" RELATED [OMIM:607677]
synonym: "CMT 2I" RELATED [GARD:0009197]
synonym: "CMT2I" EXACT ABBREVIATION [DOID:0110158, MONDO:Lexical, OMIM:607677, Orphanet:99942]
xref: DOID:0110158 {source="MONDO:equivalentTo"}
xref: GARD:9197 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99942", source="Orphanet:99942/attributed", source="Orphanet:99942/ntbt", source="DOID:0110158"}
xref: MEDGEN:854756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607677 {source="Orphanet:99942", source="MONDO:equivalentTo", source="Orphanet:99942/e", source="DOID:0110158"}
xref: Orphanet:99942 {source="OMIM:607677", source="MONDO:equivalentTo", source="DOID:0110158"}
xref: SCTID:717013009 {source="MONDO:equivalentTo"}
xref: UMLS:C3888087 {source="MONDO:equivalentTo", source="MEDGEN:854756", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110158/inferred", source="MONDO:Redundant", source="OMIM:607677", source="Orphanet:99942/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110158", source="Orphanet:99942"} ! Charcot-Marie-Tooth disease type 2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 {source="MONDO:mim2gene_medgen"} ! MPZ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i" xsd:anyURI {source="GARD:0009197"}

[Term]
id: MONDO:0011890
name: Charcot-Marie-Tooth disease type 1D
def: "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis." [Orphanet:101084]
subset: gard_rare {source="GARD:9189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101084"}
subset: orphanet_rare {source="Orphanet:101084"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot Marie Tooth disease type 1D" RELATED [GARD:0009189]
synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1D" RELATED [GARD:0009189, MONDO:Lexical, OMIM:607678]
synonym: "Charcot-Marie-Tooth disease, type 1D" EXACT [OMIM:607678, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 1D" EXACT [DOID:0110150]
synonym: "Charcot-Marie-Tooth neuropathy, type 1D" RELATED [OMIM:607678]
synonym: "CMT 1D" RELATED [GARD:0009189]
synonym: "CMT1D" EXACT ABBREVIATION [DOID:0110150, MONDO:Lexical, OMIM:607678, Orphanet:101084]
synonym: "EGR2 Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary motor and sensory neuropathy 1D" EXACT [DOID:0110150, OMIM:607678]
synonym: "HMSN 1D" RELATED [OMIM:607678]
synonym: "HMSN ID" EXACT [DOID:0110150]
synonym: "HMSN1D" EXACT ABBREVIATION [DOID:0110150, OMIM:607678]
xref: DOID:0110150 {source="MONDO:equivalentTo"}
xref: GARD:9189 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110150", source="Orphanet:101084/attributed", source="Orphanet:101084/ntbt", source="Orphanet:101084"}
xref: MEDGEN:334709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537985 {source="Orphanet:101084/e", source="MONDO:equivalentTo", source="Orphanet:101084"}
xref: OMIM:607678 {source="Orphanet:101084/e", source="DOID:0110150", source="MONDO:equivalentTo", source="Orphanet:101084"}
xref: Orphanet:101084 {source="OMIM:607678", source="DOID:0110150", source="MONDO:equivalentTo"}
xref: SCTID:719979008 {source="MONDO:equivalentTo"}
xref: UMLS:C1843247 {source="MEDGEN:334709", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110150/inferred", source="MESH:C537985", source="MONDO:Redundant", source="OMIM:607678", source="Orphanet:101084/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019011 {source="DOID:0110150", source="MONDO:Redundant", source="Orphanet:101084"} ! Charcot-Marie-Tooth disease type 1
intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3239 ! EGR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3239 {source="MONDO:mim2gene_medgen"} ! EGR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d" xsd:anyURI {source="GARD:0009189"}

[Term]
id: MONDO:0011891
name: febrile seizures, familial, 8
def: "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype." [OMIM:607681]
subset: gard_rare {source="GARD:18058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: predisposition
subset: rare
synonym: "childhood absence epilepsy caused by mutation in GABRG2" EXACT [MONDO:design_pattern]
synonym: "ECA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607681]
synonym: "epilepsy, childhood absence, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:607681]
synonym: "epilepsy, childhood absence, susceptibility to, type 2" RELATED [MONDORULE:1, OMIM:607681]
synonym: "GABRG2 childhood absence epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GABRG2 generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 []
synonym: "GABRG2 generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Gefs+, type 3" RELATED [OMIM:611277]
synonym: "GEFSP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611277]
synonym: "generalised epilepsy with febrile seizures plus caused by mutation in GABRG2" EXACT OMO:0003005 []
synonym: "generalised epilepsy with febrile seizures plus, type 3" EXACT OMO:0003005 []
synonym: "generalized epilepsy with febrile seizures plus caused by mutation in GABRG2" EXACT [MONDO:design_pattern]
synonym: "generalized epilepsy with febrile seizures plus, type 3" EXACT [MONDO:Lexical, OMIM:611277]
synonym: "susceptibility to childhood absence epilepsy 2" RELATED [OMIM:607681]
xref: DOID:0111298 {source="MONDO:equivalentTo"}
xref: GARD:18058 {source="MONDO:GARD"}
xref: MEDGEN:370755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565811 {source="MONDO:equivalentTo"}
xref: OMIM:607681 {source="MONDO:equivalentTo"}
xref: OMIM:611277 {source="MONDO:equivalentObsolete"}
xref: Orphanet:36387 {source="OMIM:611277"}
xref: Orphanet:64280 {source="OMIM:607681"}
xref: UMLS:C1969810 {source="MEDGEN:370755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000032 {source="DC-OMIM:611277", source="OMIM:611277"} ! febrile seizures, familial
is_a: MONDO:0010826 {source="OMIMPS:600131", source="https://github.com/monarch-initiative/mondo/issues/1062"} ! childhood absence epilepsy
is_a: MONDO:0018214 {source="DC-OMIM:611277", source="MONDO:Redundant", source="OMIM:611277"} ! generalized epilepsy with febrile seizures plus
intersection_of: MONDO:0000032 ! febrile seizures, familial
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4087 ! GABRG2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4087 {source="MONDO:mim2gene_medgen"} ! GABRG2

[Term]
id: MONDO:0011892
name: epilepsy, idiopathic generalized, susceptibility to, 9
def: "Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CACNB4 generalised epilepsy" EXACT OMO:0003005 []
synonym: "CACNB4 generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EIG9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607682]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:607682]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:607682]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 6" RELATED [OMIM:607682]
synonym: "generalised epilepsy caused by mutation in CACNB4" EXACT OMO:0003005 []
synonym: "generalized epilepsy caused by mutation in CACNB4" EXACT [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalised epilepsy 9" RELATED OMO:0003005 []
synonym: "susceptibility to idiopathic generalized epilepsy 9" RELATED [OMIM:607682]
xref: DOID:0111323 {source="MONDO:equivalentTo"}
xref: MEDGEN:413424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607682 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="OMIM:607682"}
xref: UMLS:C2750887 {source="MEDGEN:413424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:607682"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1404 ! CACNB4
intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:607682"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0011893
name: autosomal dominant nonsyndromic hearing loss 52
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32." [DOID:0110578, PMID:18312703]
subset: gard_rare {source="GARD:18119", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 52" NARROW [DOID:0110578]
synonym: "autosomal dominant nonsyndromic deafness 52" NARROW [OMIM:607683]
synonym: "autosomal dominant nonsyndromic deafness type 52" NARROW [DOID:0110578, MONDORULE:2]
synonym: "deafness, autosomal dominant 42" NARROW [OMIM:607683]
synonym: "deafness, autosomal dominant 52" NARROW [MONDO:Lexical, OMIM:607683, OMIM:genemap2]
synonym: "DFNA52" NARROW ABBREVIATION [DOID:0110578, MONDO:Lexical, OMIM:607683]
xref: DOID:0110578 {source="MONDO:equivalentTo"}
xref: GARD:18119 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110578"}
xref: MEDGEN:334357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564348 {source="MONDO:equivalentTo"}
xref: OMIM:607683 {source="DOID:0110578", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="OMIM:607683"}
xref: UMLS:C1843232 {source="MONDO:equivalentTo", source="MEDGEN:334357", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:607683", source="DOID:0110578", source="OMIM:607683"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011894
name: Charcot-Marie-Tooth disease type 2E
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." [Orphanet:99939]
subset: gard_rare {source="GARD:9193", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99939"}
subset: orphanet_rare {source="Orphanet:99939"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [DOID:0110165]
synonym: "Charcot Marie Tooth disease type 2E" RELATED [GARD:0009193]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2E" RELATED [GARD:0009193, MONDO:Lexical, OMIM:607684]
synonym: "Charcot-Marie-Tooth disease, type 2E" EXACT [OMIM:607684, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT [DOID:0110165]
synonym: "Charcot-Marie-Tooth neuropathy, type 2E" RELATED [OMIM:607684]
synonym: "CMT 2E" RELATED [GARD:0009193]
synonym: "CMT2E" EXACT ABBREVIATION [DOID:0110165, MONDO:Lexical, OMIM:607684, Orphanet:99939]
synonym: "NEFL Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110165 {source="MONDO:equivalentTo"}
xref: GARD:9193 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110165", source="Orphanet:99939", source="Orphanet:99939/attributed", source="Orphanet:99939/ntbt"}
xref: MEDGEN:375127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537994 {source="MONDO:equivalentTo"}
xref: NCIT:C134953 {source="MONDO:equivalentTo"}
xref: OMIM:607684 {source="Orphanet:99939/e", source="MONDO:equivalentTo", source="DOID:0110165", source="Orphanet:99939"}
xref: Orphanet:99939 {source="MONDO:equivalentTo", source="DOID:0110165", source="OMIM:607684"}
xref: SCTID:717012004 {source="MONDO:equivalentTo"}
xref: UMLS:C1843225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375127"}
is_a: MONDO:0015626 {source="DOID:0110165/inferred", source="MESH:C537994", source="MONDO:Redundant", source="NCIT:C134953", source="OMIM:607684", source="Orphanet:99939/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110165", source="MONDO:Redundant", source="Orphanet:99939"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7739 ! NEFL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7739 {source="MONDO:mim2gene_medgen"} ! NEFL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e" xsd:anyURI {source="GARD:0009193"}

[Term]
id: MONDO:0011895
name: idiopathic hypereosinophilic syndrome
subset: gard_rare {source="GARD:16625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3260"}
subset: orphanet_rare {source="Orphanet:3260"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607685]
synonym: "hypereosinophilic syndrome, idiopathic" RELATED [MONDO:Lexical, OMIM:607685]
synonym: "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" EXACT [OMIM:607685, OMIM:genemap2]
xref: GARD:16625 {source="MONDO:GARD"}
xref: MEDGEN:61525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607685 {source="Orphanet:3260/e", source="MONDO:equivalentTo", source="Orphanet:3260"}
xref: Orphanet:3260 {source="MONDO:equivalentTo", source="OMIM:607685"}
xref: SCTID:423294001 {source="MONDO:equivalentTo"}
xref: UMLS:C0206141 {source="MONDO:equivalentTo", source="MEDGEN:61525", source="MONDO:MEDGEN"}
is_a: MONDO:0015691 {source="Orphanet:3260"} ! hypereosinophilic syndrome
intersection_of: MONDO:0015691 ! hypereosinophilic syndrome
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8803 {source="MONDO:mim2gene_medgen"} ! PDGFRA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011896
name: Parkinson disease 11, autosomal dominant, susceptibility to
def: "An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
subset: predisposition
synonym: "GIGYF2 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary late onset Parkinson disease caused by mutation in GIGYF2" EXACT [MONDO:design_pattern]
synonym: "PARK11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607688]
synonym: "Parkinson disease 11" EXACT [OMIM:607688, OMIM:genemap2]
synonym: "Parkinson disease 11, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:607688]
synonym: "susceptibility to autosomal dominant Parkinson disease 11" RELATED [OMIM:607688]
xref: MEDGEN:896658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564345 {source="MONDO:equivalentTo"}
xref: OMIM:607688 {source="MONDO:equivalentTo"}
xref: Orphanet:411602 {source="OMIM:607688"}
xref: UMLS:C4083045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896658"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11960 ! GIGYF2
intersection_of: predisposes_towards MONDO:0008199 ! late-onset Parkinson disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005180 {source="MESH:C564345", source="OMIM:607688", source="https://orcid.org/0000-0001-5208-3432"} ! Parkinson disease
relationship: excluded_subClassOf MONDO:0008199 {source="Orphanet:411602/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! late-onset Parkinson disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11960 {source="MONDO:mim2gene_medgen"} ! GIGYF2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011897
name: leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
def: "A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." [https://orcid.org/0000-0001-5208-3432, Orphanet:137639]
subset: gard_rare {source="GARD:16948", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:137639"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "4H syndrome" RELATED [OMIM:607694]
synonym: "ataxia, delayed dentition, and hypomyelination" RELATED [OMIM:607694]
synonym: "ataxia-delayed dentition-hypomyelination syndrome" EXACT [Orphanet:137639]
synonym: "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT [DOID:0060794]
synonym: "dentoleukoencephalopathy" RELATED [DOID:0060794]
synonym: "HLD7" EXACT ABBREVIATION [DOID:0060794, MONDO:Lexical, OMIM:607694]
synonym: "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism" RELATED [DOID:0060794]
synonym: "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome" RELATED [Orphanet:137639]
synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" RELATED [DOID:0060794]
synonym: "leukodystrophy with oligodontia" RELATED EXCLUDE [DOID:0060794]
synonym: "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:607694]
synonym: "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism" RELATED [OMIM:607694]
synonym: "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition" RELATED [OMIM:607694]
synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT [DOID:0060794]
synonym: "TACH syndrome" RELATED EXCLUDE [DOID:0060794]
synonym: "tremor-ataxia-central hypomyelination syndrome" RELATED EXCLUDE [DOID:0060794]
xref: DOID:0060794 {source="MONDO:equivalentTo"}
xref: GARD:16948 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:137639", source="Orphanet:137639/attributed", source="Orphanet:137639/ntbt"}
xref: ICD10CM:G11.1 {source="DOID:0060794"}
xref: MEDGEN:390993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200585 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201297 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:607694 {source="DOID:0060794", source="MONDO:equivalentTo", source="Orphanet:137639", source="Orphanet:137639/ntbt"}
xref: Orphanet:137639 {source="DOID:0060794", source="MONDO:equivalentTo", source="OMIM:607694"}
xref: Orphanet:447893 {source="DOID:0060794", source="MONDO:relatedTo"}
xref: Orphanet:447896 {source="DOID:0060794", source="MONDO:relatedTo"}
xref: Orphanet:77295 {source="DOID:0060794", source="OMIM:607694", source="MONDO:directSiblingOf"}
xref: Orphanet:88637 {source="MONDO:relatedTo", source="OMIM:607694"}
xref: SCTID:721846006 {source="MONDO:equivalentTo"}
xref: UMLS:C2676243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390993"}
is_a: MONDO:0019046 {source="DOID:0060794", source="DOID:0060794/inferred", source="MONDO:Redundant", source="OMIM:607694", source="Orphanet:137639/inferred"} ! leukodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30074 {source="MONDO:mim2gene_medgen"} ! POLR3A

[Term]
id: MONDO:0011898
name: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" EXACT [OMIM:607706]
synonym: "Charcot-Marie-Tooth disease, type 4A, axonal form" RELATED [OMIM:607706]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive" RELATED [OMIM:607706]
synonym: "CMT2 with vocal cord paresis, autosomal recessive" RELATED [OMIM:607706]
xref: MEDGEN:375113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607706 {source="MONDO:equivalentTo"}
xref: Orphanet:101097 {source="OMIM:607706"}
xref: UMLS:C1843183 {source="MEDGEN:375113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:607706", source="OMIM:607706/inferred"} ! Charcot-Marie-Tooth disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 {source="MONDO:mim2gene_medgen"} ! GDAP1

[Term]
id: MONDO:0011899
name: Noonan syndrome-like disorder with loose anagen hair
def: "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays." [Orphanet:2701]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2701"}
subset: ordo_malformation_syndrome {source="Orphanet:2701"}
subset: orphanet_rare {source="Orphanet:2701"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "Noonan syndrome-like disorder with loose anagen hair" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607721]
synonym: "Noonan syndrome-like disorder with loose anagen hair 1" RELATED [OMIM:607721]
synonym: "Noonan-like syndrome with loose anagen hair" RELATED [GARD:0010719]
synonym: "NS/LAH" EXACT [Orphanet:2701]
synonym: "NSLH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607721]
synonym: "NSLH1" RELATED ABBREVIATION [OMIM:607721]
synonym: "Tosti syndrome" EXACT [OMIM:607721, Orphanet:2701]
xref: DOID:0080691 {source="MONDO:equivalentTo"}
xref: GARD:10719 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2701", source="Orphanet:2701/attributed", source="Orphanet:2701/ntbt"}
xref: MEDGEN:334697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564342 {source="MONDO:equivalentTo"}
xref: NCIT:C178129 {source="MONDO:equivalentTo"}
xref: OMIMPS:607721 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2701 {source="OMIM:607721", source="MONDO:equivalentTo"}
xref: SCTID:723444009 {source="MONDO:equivalentTo"}
xref: UMLS:C1843181 {source="MEDGEN:334697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="OMIM:607721/inferred", source="Orphanet:2701"} ! alopecia
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0010908 ! loose anagen syndrome
is_a: MONDO:0015160 {source="Orphanet:2701"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0020297 {source="Orphanet:2701"} ! Noonan syndrome and Noonan-related syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607721"} ! inherited

[Term]
id: MONDO:0011900
name: porokeratosis 4, disseminated superficial actinic type
subset: gard_rare {source="GARD:9504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POROK4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607728]
synonym: "porokeratosis 4, disseminated superficial actinic" EXACT [OMIM:607728, OMIM:genemap2]
synonym: "porokeratosis 4, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:607728]
synonym: "porokeratosis, disseminated superficial actinic, 2" RELATED [OMIM:607728]
xref: GARD:9504 {source="MONDO:GARD"}
xref: MEDGEN:335900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607728 {source="MONDO:equivalentTo"}
xref: Orphanet:79152 {source="OMIM:607728"}
xref: UMLS:C1843180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335900"}
is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:607728"} ! porokeratosis
is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011901
name: Charcot-Marie-Tooth disease axonal type 2H
def: "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement." [Orphanet:101102]
comment: Not in the OMIM series. {source="OMIM:607731"}
subset: gard_rare {source="GARD:9196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101102"}
subset: orphanet_rare {source="Orphanet:101102"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-CMT2C" EXACT [DOID:0110166, Orphanet:101102]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT [DOID:0110166]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT [DOID:0110166]
synonym: "autosomal recessive axonal CMT4C2" EXACT [DOID:0110166, Orphanet:101102]
synonym: "axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT [DOID:0110166, Orphanet:101102]
synonym: "Charcot Marie Tooth disease type 2H" RELATED [GARD:0009196]
synonym: "Charcot-Marie-Tooth disease type 2H" EXACT [DOID:0110166]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2H" RELATED [MONDO:Lexical, OMIM:607731]
synonym: "Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive" RELATED [OMIM:607731]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive" RELATED [OMIM:607731]
synonym: "CMT 2H" RELATED [GARD:0009196]
synonym: "CMT2H" EXACT ABBREVIATION [DOID:0110166, MONDO:Lexical, OMIM:607731, Orphanet:101102]
xref: DOID:0110166 {source="MONDO:equivalentTo"}
xref: GARD:9196 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:101102", source="Orphanet:101102/attributed", source="Orphanet:101102/ntbt", source="DOID:0110166"}
xref: MEDGEN:334344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535415 {source="Orphanet:101102", source="MONDO:equivalentTo", source="Orphanet:101102/e"}
xref: OMIM:607731 {source="Orphanet:101102", source="MONDO:equivalentTo", source="Orphanet:101102/e", source="DOID:0110166"}
xref: Orphanet:101102 {source="MONDO:equivalentTo", source="DOID:0110166", source="OMIM:607731"}
xref: SCTID:720637005 {source="MONDO:equivalentTo"}
xref: UMLS:C1843173 {source="MEDGEN:334344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110166/inferred", source="MESH:C535415", source="MONDO:Redundant", source="OMIM:607731", source="Orphanet:101102/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110166"} ! Charcot-Marie-Tooth disease type 2

[Term]
id: MONDO:0011902
name: Charcot-Marie-Tooth disease type 1F
def: "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).." [Orphanet:101085]
subset: gard_rare {source="GARD:9191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101085"}
subset: orphanet_rare {source="Orphanet:101085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot Marie Tooth disease type 1F" RELATED [GARD:0009191]
synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" RELATED [GARD:0009191, MONDO:Lexical, OMIM:607734]
synonym: "Charcot-Marie-Tooth disease, type 1F" EXACT [OMIM:607734, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 1F" EXACT [DOID:0110149]
synonym: "Charcot-Marie-Tooth neuropathy, type 1F" RELATED [OMIM:607734]
synonym: "CMT 1F" RELATED [GARD:0009191]
synonym: "CMT1F" EXACT ABBREVIATION [DOID:0110149, MONDO:Lexical, OMIM:607734, Orphanet:101085]
synonym: "NEFL Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110149 {source="MONDO:equivalentTo"}
xref: GARD:9191 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110149", source="Orphanet:101085/attributed", source="Orphanet:101085/ntbt", source="Orphanet:101085"}
xref: MEDGEN:334337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537987 {source="MONDO:equivalentTo"}
xref: OMIM:607734 {source="DOID:0110149", source="Orphanet:101085/e", source="MONDO:equivalentTo", source="Orphanet:101085"}
xref: Orphanet:101085 {source="DOID:0110149", source="OMIM:607734", source="MONDO:equivalentTo"}
xref: SCTID:719980006 {source="MONDO:equivalentTo"}
xref: UMLS:C1843164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334337"}
is_a: MONDO:0015626 {source="DOID:0110149/inferred", source="MESH:C537987", source="MONDO:Redundant", source="OMIM:607734", source="Orphanet:101085/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019011 {source="DOID:0110149", source="MONDO:Redundant", source="Orphanet:101085"} ! Charcot-Marie-Tooth disease type 1
intersection_of: MONDO:0019011 ! Charcot-Marie-Tooth disease type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7739 ! NEFL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7739 {source="MONDO:mim2gene_medgen"} ! NEFL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f" xsd:anyURI {source="GARD:0009191"}

[Term]
id: MONDO:0011903
name: Charcot-Marie-Tooth disease type 2J
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." [Orphanet:99943]
subset: gard_rare {source="GARD:9198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99943"}
subset: orphanet_rare {source="Orphanet:99943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2J" RELATED [Orphanet:99943]
synonym: "Charcot Marie Tooth disease type 2J" RELATED [GARD:0009198]
synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" EXACT [DOID:0110157]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2J" RELATED [GARD:0009198, MONDO:Lexical, OMIM:607736]
synonym: "Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities" RELATED [OMIM:607736]
synonym: "Charcot-Marie-Tooth disease, type 2J" EXACT [OMIM:607736, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2J" EXACT [DOID:0110157]
synonym: "Charcot-Marie-Tooth neuropathy, type 2J" RELATED [OMIM:607736]
synonym: "CMT 2J" RELATED [GARD:0009198]
synonym: "CMT2J" EXACT ABBREVIATION [DOID:0110157, MONDO:Lexical, OMIM:607736, Orphanet:99943]
xref: DOID:0110157 {source="MONDO:equivalentTo"}
xref: GARD:9198 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99943/attributed", source="Orphanet:99943/ntbt", source="Orphanet:99943", source="DOID:0110157"}
xref: MEDGEN:375107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535417 {source="MONDO:equivalentTo"}
xref: OMIM:607736 {source="Orphanet:99943", source="MONDO:equivalentTo", source="Orphanet:99943/e", source="DOID:0110157"}
xref: Orphanet:99943 {source="OMIM:607736", source="MONDO:equivalentTo", source="DOID:0110157"}
xref: SCTID:717014003 {source="MONDO:equivalentTo"}
xref: UMLS:C1843153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375107"}
is_a: MONDO:0015626 {source="DOID:0110157/inferred", source="MESH:C535417", source="MONDO:Redundant", source="OMIM:607736", source="Orphanet:99943/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110157", source="Orphanet:99943"} ! Charcot-Marie-Tooth disease type 2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 {source="MONDO:mim2gene_medgen"} ! MPZ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j" xsd:anyURI {source="GARD:0009198"}

[Term]
id: MONDO:0011904
name: seizures, benign familial infantile, 3
def: "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16521", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140927"}
subset: orphanet_rare {source="Orphanet:140927"}
subset: rare
synonym: "benign familial infantile convulsions" RELATED [GARD:0001518]
synonym: "benign familial infantile epilepsy caused by mutation in SCN2A" EXACT [MONDO:design_pattern]
synonym: "benign familial neonatal-infantile seizures" EXACT CLINGEN_LABEL []
synonym: "benign neonatal-infantile epilepsy" EXACT [Orphanet:140927]
synonym: "BFIS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607745]
synonym: "BFNIS" EXACT ABBREVIATION [GARD:0001518, Orphanet:140927]
synonym: "convulsions benign familial neonatal" RELATED [GARD:0001518]
synonym: "convulsions, benign familial infantile, 3" RELATED [OMIM:607745]
synonym: "epilepsy, benign neonatal-infantile" RELATED [GARD:0001518]
synonym: "SCN2A benign familial infantile epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "seizures, benign familial infantile, 3" EXACT [MONDO:Lexical, OMIM:607745]
synonym: "seizures, benign familial infantile, type 3" EXACT [MONDORULE:1, OMIM:607745]
synonym: "seizures, benign familial neonatal-infantile" RELATED [OMIM:607745]
xref: DOID:0081116 {source="MONDO:equivalentTo"}
xref: GARD:16521 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:140927", source="Orphanet:140927/attributed", source="Orphanet:140927/ntbt"}
xref: MedDRA:10067866 {source="Orphanet:140927", source="Orphanet:140927/e"}
xref: MEDGEN:375105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607745 {source="Orphanet:140927", source="Orphanet:140927/ntbt", source="MONDO:equivalentTo", source="GARD:0001518"}
xref: Orphanet:140927 {source="OMIM:607745", source="MONDO:equivalentTo", source="GARD:0001518"}
xref: Orphanet:306 {source="OMIM:607745", source="OMIM:601764"}
xref: UMLS:C1843140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375105"}
is_a: MONDO:0015642 {source="MONDO:Redundant", source="Orphanet:140927"} ! benign partial infantile seizures
is_a: MONDO:0017615 {source="DC-OMIM:607745", source="MONDO:Redundant", source="OMIM:601764", source="OMIM:607745"} ! benign familial infantile epilepsy
intersection_of: MONDO:0017615 ! benign familial infantile epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 ! SCN2A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 {source="MONDO:mim2gene_medgen"} ! SCN2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4073" xsd:anyURI

[Term]
id: MONDO:0011905
name: obsolete familial hypercholanemia
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2940" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0031446

[Term]
id: MONDO:0011906
name: congenital bile acid synthesis defect 1
def: "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption." [Orphanet:79301]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79301"}
subset: orphanet_rare {source="Orphanet:79301"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of" RELATED [GARD:0009813]
synonym: "3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency" RELATED [OMIM:607765]
synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1" EXACT [Orphanet:79301]
synonym: "BASD1" EXACT ABBREVIATION [Orphanet:79301]
synonym: "bile acid synthesis defect, congenital, 1" RELATED [MONDO:Lexical, OMIM:607765]
synonym: "bile acid synthesis defect, congenital, type 1" EXACT [MONDORULE:1, OMIM:607765]
synonym: "CBAS1" EXACT ABBREVIATION [DOID:0111071, MONDO:Lexical, OMIM:607765]
synonym: "congenital bile acid synthesis defect 1" EXACT CLINGEN_LABEL []
synonym: "congenital bile acid synthesis defect caused by mutation in HSD3B7" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 1" EXACT [DOID:0111071, MONDORULE:1]
synonym: "congenital bile acid synthesis defect, type 1" RELATED [GARD:0009813]
synonym: "HSD3B7 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111071 {source="MONDO:equivalentTo"}
xref: GARD:9813 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="DOID:0111071", source="Orphanet:79301/attributed", source="Orphanet:79301/ntbt", source="Orphanet:79301"}
xref: MEDGEN:335883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535442 {source="DOID:0111071", source="Orphanet:79301/e", source="MONDO:equivalentTo", source="Orphanet:79301"}
xref: OMIM:607765 {source="DOID:0111071", source="Orphanet:79301/e", source="MONDO:equivalentTo", source="Orphanet:79301"}
xref: Orphanet:79301 {source="OMIM:607765", source="DOID:0111071", source="MONDO:equivalentTo"}
xref: UMLS:C1843116 {source="MEDGEN:335883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018841 {source="DC-OMIM:607765", source="DOID:0111071", source="MONDO:Redundant", source="OMIM:607765", source="Orphanet:79301"} ! congenital bile acid synthesis defect
intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18324 ! HSD3B7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18324 {source="MONDO:mim2gene_medgen"} ! HSD3B7

[Term]
id: MONDO:0011907
name: acrocapitofemoral dysplasia
def: "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." [Orphanet:63446]
subset: gard_rare {source="GARD:10605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63446"}
subset: ordo_malformation_syndrome {source="Orphanet:63446"}
subset: orphanet_rare {source="Orphanet:63446"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607778]
synonym: "acrocapitofemoral dysplasia" EXACT [MONDO:Lexical, OMIM:607778]
xref: DOID:0050604 {source="MONDO:equivalentTo"}
xref: GARD:10605 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:63446/attributed", source="Orphanet:63446/ntbt", source="Orphanet:63446"}
xref: MEDGEN:334681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564334 {source="MONDO:equivalentTo"}
xref: OMIM:607778 {source="Orphanet:63446", source="MONDO:equivalentTo", source="Orphanet:63446/e", source="DOID:0050604"}
xref: Orphanet:63446 {source="OMIM:607778", source="MONDO:equivalentTo"}
xref: SCTID:720416007 {source="MONDO:equivalentTo"}
xref: UMLS:C1843096 {source="MEDGEN:334681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="DOID:0050604"} ! osteochondrodysplasia
is_a: MONDO:0019695 {source="Orphanet:63446", source="PMID:31633310"} ! acromelic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5956 {source="MONDO:mim2gene_medgen"} ! IHH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia" xsd:anyURI {source="GARD:0010605"}

[Term]
id: MONDO:0011908
name: juvenile myelomonocytic leukemia
def: "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" [NCIT:C9233]
subset: gard_rare {source="GARD:9884", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1316"}
subset: ordo_disorder {source="Orphanet:86834"}
subset: orphanet_rare {source="Orphanet:86834"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic myelomonocytic leukaemia" BROAD OMO:0003005 []
synonym: "chronic myelomonocytic leukemia" BROAD [NCIT:C9233]
synonym: "JCML" EXACT ABBREVIATION [NCIT:C9233]
synonym: "JMML" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C9233, OMIM:607785, Orphanet:86834]
synonym: "juvenile chronic myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "juvenile chronic myelogenous leukemia" EXACT [NCIT:C9233]
synonym: "juvenile chronic myeloid leukaemia" EXACT OMO:0003005 []
synonym: "juvenile chronic myeloid leukemia" EXACT [NCIT:C9233]
synonym: "juvenile chronic myelomonocytic leukaemia" EXACT OMO:0003005 []
synonym: "juvenile chronic myelomonocytic leukemia" EXACT [Orphanet:86834]
synonym: "juvenile myelomonocytic leukemia" EXACT [MONDO:Lexical, NCIT:C9233, OMIM:607785]
synonym: "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" EXACT [OMIM:607785, OMIM:genemap2]
synonym: "leukemia, chronic myelomonocytic" RELATED [OMIM:607785]
synonym: "leukemia, juvenile myelomonocytic" RELATED [OMIM:607785]
synonym: "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" EXACT [OMIM:607785, OMIM:genemap2]
synonym: "leukemia, juvenile myelomonocytic, somatic" EXACT [OMIM:607785, OMIM:genemap2]
xref: DOID:0050458 {source="MONDO:equivalentTo"}
xref: EFO:1000309 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9884 {source="MONDO:GARD"}
xref: ICD10CM:C93.3 {source="DOID:0050458", source="Orphanet:86834", source="Orphanet:86834/e"}
xref: ICD10CM:C93.30 {source="DOID:0050458"}
xref: icd11.foundation:1786015803 {source="MONDO:equivalentTo", source="Orphanet:86834", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9946/3 {source="NCIT:C9233"}
xref: MedDRA:10023249 {source="Orphanet:86834", source="Orphanet:86834/e"}
xref: MEDGEN:138109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054429 {source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="Orphanet:86834/e"}
xref: NANDO:2200014 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200015 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9233 {source="EFO:1000309", source="DOID:0050458", source="MONDO:equivalentTo"}
xref: NORD:1316 {source="MONDO:NORD"}
xref: OMIM:607785 {source="EFO:1000309", source="DOID:0050458", source="MONDO:equivalentTo", source="Orphanet:86834", source="Orphanet:86834/e"}
xref: ONCOTREE:JMML {source="MONDO:equivalentTo"}
xref: Orphanet:86834 {source="MONDO:equivalentTo", source="OMIM:607785"}
xref: SCTID:128832006 {source="DOID:0050458"}
xref: SCTID:277587001 {source="DOID:0050458"}
xref: SCTID:445227008 {source="DOID:0050458", source="MONDO:equivalentTo"}
xref: UMLS:C0349639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138109"}
is_a: MONDO:0006311 {source="DOID:0050458", source="MONDO:Redundant", source="NCIT:C9233", source="ONCOTREE:JMML"} ! myelodysplastic/myeloproliferative neoplasm
is_a: MONDO:0020311 ! chronic myelomonocytic leukemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1541 {source="OMIM:607785"} ! CBL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17073 {source="OMIM:607785"} ! ARHGAP26
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="OMIM:607785"} ! NF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="OMIM:607785"} ! PTPN11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011909
name: Charcot-Marie-Tooth disease dominant intermediate D
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor." [Orphanet:100046]
subset: gard_rare {source="GARD:9207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100046"}
subset: orphanet_rare {source="Orphanet:100046"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110200]
synonym: "Charcot Marie Tooth disease dominant intermediate 3" RELATED [GARD:0009207]
synonym: "Charcot-Marie-Tooth disease caused by mutation in MPZ" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type D" EXACT [DOID:0110200, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate D" RELATED [MONDO:Lexical, OMIM:607791]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type D" EXACT [MONDORULE:1, OMIM:607791]
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate D" EXACT [DOID:0110200]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate D" RELATED [OMIM:607791]
synonym: "CMTDID" EXACT ABBREVIATION [DOID:0110200, MONDO:Lexical, OMIM:607791, Orphanet:100046]
synonym: "DI-CMTD" EXACT [DOID:0110200]
synonym: "Di-Cmtd" RELATED [OMIM:607791]
synonym: "MPZ Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009207]
xref: DOID:0110200 {source="MONDO:equivalentTo"}
xref: GARD:9207 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:100046", source="Orphanet:100046/attributed", source="Orphanet:100046/ntbt", source="DOID:0110200"}
xref: MEDGEN:334318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564333 {source="MONDO:equivalentTo"}
xref: OMIM:607791 {source="Orphanet:100046", source="MONDO:equivalentTo", source="Orphanet:100046/e", source="DOID:0110200"}
xref: Orphanet:100046 {source="MONDO:equivalentTo", source="OMIM:607791", source="DOID:0110200"}
xref: SCTID:765747004 {source="MONDO:equivalentTo"}
xref: UMLS:C1843075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334318"}
is_a: MONDO:0015626 {source="DOID:0110200/inferred", source="MESH:C564333", source="MONDO:Redundant", source="OMIM:607791", source="Orphanet:100046/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019548 {source="Orphanet:100046", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 ! MPZ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7225 {source="MONDO:mim2gene_medgen"} ! MPZ

[Term]
id: MONDO:0011910
name: obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
xref: DOID:0110302 {source="MONDO:obsoleteEquivalentObsolete"}
xref: ICD10CM:G71.0 {source="DOID:0110302", source="Orphanet:265/ntbt", source="Orphanet:265/inclusion", source="Orphanet:265"}
xref: MESH:C563362 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C148318 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:607801 {source="DOID:0110302", source="Orphanet:265/e", source="Orphanet:265", source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:265 {source="DOID:0110302", source="OMIM:607801", source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:719986000 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0019947

[Term]
id: MONDO:0011911
name: craniolenticulosutural dysplasia
def: "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." [Orphanet:50814]
subset: gard_rare {source="GARD:16647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50814"}
subset: ordo_malformation_syndrome {source="Orphanet:50814"}
subset: orphanet_rare {source="Orphanet:50814"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Boyadjiev-Jabs syndrome" EXACT [OMIM:607812, Orphanet:50814]
synonym: "CLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607812]
synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [DOID:0070307]
synonym: "craniolenticulosutural dysplasia" EXACT [MONDO:Lexical, OMIM:607812]
xref: DOID:0070307 {source="MONDO:equivalentTo"}
xref: GARD:16647 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:50814/attributed", source="Orphanet:50814/ntbt", source="Orphanet:50814"}
xref: MEDGEN:334671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564332 {source="MONDO:equivalentTo"}
xref: OMIM:607812 {source="Orphanet:50814/e", source="MONDO:equivalentTo", source="Orphanet:50814"}
xref: Orphanet:50814 {source="OMIM:607812", source="MONDO:equivalentTo"}
xref: SCTID:725100001 {source="MONDO:equivalentTo"}
xref: UMLS:C1843042 {source="MEDGEN:334671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:50814"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:50814", source="Orphanet:50814/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10701 {source="MONDO:mim2gene_medgen"} ! SEC23A

[Term]
id: MONDO:0011912
name: autosomal recessive nonsyndromic hearing loss 37
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 37" NARROW [DOID:0110495]
synonym: "autosomal recessive nonsyndromic deafness 37" NARROW [OMIM:607821]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO6" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 37" NARROW [DOID:0110495, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 37" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 37" NARROW [MONDO:Lexical, OMIM:607821, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 37" NARROW [MONDORULE:2, OMIM:607821]
synonym: "DFNB37" NARROW ABBREVIATION [DOID:0110495, MONDO:Lexical, OMIM:607821]
synonym: "MYO6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110495 {source="MONDO:equivalentTo"}
xref: GARD:22605 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110495"}
xref: MEDGEN:375076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564331 {source="MONDO:equivalentTo"}
xref: OMIM:607821 {source="MONDO:equivalentTo", source="DOID:0110495"}
xref: UMLS:C1843028 {source="MEDGEN:375076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:607821", source="DOID:0110495", source="MONDO:Redundant", source="OMIM:607821"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7605 ! MYO6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7605 {source="MONDO:mim2gene_medgen"} ! MYO6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011913
name: Alzheimer disease 3
def: "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene." [NCIT:C123412]
subset: gard_rare {source="GARD:16513", source="MONDO:GARD"}
subset: rare
synonym: "AD" RELATED ABBREVIATION [OMIM:607822]
synonym: "AD3" EXACT ABBREVIATION [DOID:0110042, OMIM:607822]
synonym: "Alzheimer disease 3" EXACT [DOID:0110042, OMIM:607822]
synonym: "Alzheimer disease 3, early onset" EXACT [DOID:0110042]
synonym: "Alzheimer disease 3, early-onset" RELATED [OMIM:607822]
synonym: "Alzheimer disease early onset type 3" RELATED [GARD:0009468]
synonym: "Alzheimer disease familial 3" EXACT [DOID:0110042]
synonym: "Alzheimer disease type 3" EXACT [MONDORULE:1, OMIM:607822]
synonym: "Alzheimer disease, familial, 3" RELATED [OMIM:607822]
synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" RELATED [OMIM:607822]
synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" RELATED [OMIM:607822]
synonym: "Alzheimer disease, protection against, due to APOE3-Christchurch" EXACT [OMIM:607822, OMIM:genemap2]
synonym: "Alzheimer disease, type 3" EXACT [OMIM:607822, OMIM:genemap2]
synonym: "Alzheimer disease, type 3, with spastic paraparesis and apraxia" EXACT [OMIM:607822, OMIM:genemap2]
synonym: "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques" EXACT [OMIM:607822, OMIM:genemap2]
synonym: "Alzheimer's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 3" EXACT [DOID:0110042, MONDORULE:1]
synonym: "early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1" EXACT [MONDO:design_pattern]
synonym: "familial Alzheimer disease, type 3" EXACT [NCIT:C123412]
synonym: "familial Alzheimer's disease, type 3" EXACT [NCIT:C123412]
synonym: "PSEN1 early-onset autosomal dominant Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110042 {source="MONDO:equivalentTo"}
xref: GARD:16513 {source="MONDO:GARD"}
xref: MEDGEN:334304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536598 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NCIT:C123412 {source="MONDO:equivalentTo"}
xref: OMIM:607822 {source="MONDO:equivalentTo", source="DOID:0110042"}
xref: UMLS:C1843013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334304"}
is_a: MONDO:0004975 {source="DOID:0110042", source="NCIT:C123412"} ! Alzheimer disease
is_a: MONDO:0015140 {source="MONDO:Redundant", source="Orphanet:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease
intersection_of: MONDO:0015140 ! early-onset autosomal dominant Alzheimer disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 ! PSEN1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 {source="MONDO:mim2gene_medgen"} ! PSEN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011914
name: hypotrichosis-lymphedema-telangiectasia syndrome
subset: gard_rare {source="GARD:15420", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607823]
synonym: "hypotrichosis-lymphedema-telangiectasia syndrome" EXACT [MONDO:Lexical, OMIM:607823]
xref: DOID:0111361 {source="MONDO:equivalentTo"}
xref: GARD:15420 {source="MONDO:GARD"}
xref: MEDGEN:375070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564327 {source="MONDO:equivalentTo"}
xref: OMIM:607823 {source="MONDO:equivalentTo"}
xref: Orphanet:69735 {source="OMIM:607823"}
xref: UMLS:C1843004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375070"}
is_a: MONDO:0007670 ! hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11194 {source="MONDO:mim2gene_medgen"} ! SOX18

[Term]
id: MONDO:0011915
name: mitral valve prolapse, myxomatous 2
subset: gard_rare {source="GARD:15421", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mitral valve prolapse 2" RELATED [OMIM:607829]
synonym: "mitral valve prolapse, myxomatous 2" EXACT [MONDO:Lexical, OMIM:607829]
synonym: "MMVP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607829]
synonym: "MVP2" RELATED ABBREVIATION [OMIM:607829]
synonym: "myxomatous mitral valve prolapse 2" RELATED [OMIM:607829]
xref: GARD:15421 {source="MONDO:GARD"}
xref: MEDGEN:335856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564326 {source="MONDO:equivalentTo"}
xref: OMIM:607829 {source="MONDO:equivalentTo"}
xref: UMLS:C1843003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335856"}
is_a: MONDO:0008004 {source="MONDO:Redundant", source="OMIM:607829", source="Orphanet:741/btnt"} ! familial mitral valve prolapse
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13681 {source="MONDO:mim2gene_medgen"} ! DCHS1

[Term]
id: MONDO:0011916
name: Charcot-Marie-Tooth disease axonal type 2K
def: "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:101097]
subset: gard_rare {source="GARD:12448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101097"}
subset: orphanet_rare {source="Orphanet:101097"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCMT2K" EXACT ABBREVIATION [DOID:0110167, Orphanet:101097]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT [DOID:0110167]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" EXACT [DOID:0110167, Orphanet:101097]
synonym: "autosomal recessive axonal CMT4C4" EXACT [DOID:0110167, Orphanet:101097]
synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT [DOID:0110167]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2K" RELATED [OMIM:607831]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K" EXACT [OMIM:607831, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K" RELATED [OMIM:607831]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2K" RELATED [MONDO:Lexical, OMIM:607831]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2K" EXACT [DOID:0110167]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2K" RELATED [OMIM:607831]
synonym: "CMT2K" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607831]
xref: DOID:0110167 {source="MONDO:equivalentTo"}
xref: GARD:12448 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:101097/attributed", source="Orphanet:101097/ntbt", source="DOID:0110167", source="Orphanet:101097"}
xref: MEDGEN:375064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607831 {source="MONDO:equivalentTo", source="Orphanet:101097/btnt", source="DOID:0110167", source="Orphanet:101097"}
xref: Orphanet:101097 {source="OMIM:607831", source="MONDO:equivalentTo", source="DOID:0110167"}
xref: Orphanet:99944 {source="OMIM:607831", source="MONDO:directSiblingOf"}
xref: SCTID:725047007 {source="MONDO:equivalentTo"}
xref: UMLS:C1842983 {source="MEDGEN:375064", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110167/inferred", source="MONDO:Redundant", source="OMIM:607831", source="Orphanet:101097/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110167"} ! Charcot-Marie-Tooth disease type 2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011917
name: focal segmental glomerulosclerosis 3, susceptibility to
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CD2AP focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:607832]
synonym: "focal segmental glomerulosclerosis caused by mutation in CD2AP" EXACT [MONDO:design_pattern]
synonym: "FSGS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607832]
synonym: "glomerulosclerosis, focal segmental, 3" EXACT [OMIM:607832, OMIM:genemap2]
synonym: "glomerulosclerosis, focal segmental, 3, susceptibility to" RELATED [OMIM:607832]
synonym: "susceptibility to focal segmental glomerulosclerosis 3" RELATED [OMIM:607832]
xref: DOID:0112245 {source="MONDO:equivalentTo"}
xref: MEDGEN:335850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607832 {source="MONDO:equivalentTo"}
xref: UMLS:C1842982 {source="MEDGEN:335850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14258 ! CD2AP
intersection_of: predisposes_towards MONDO:0005363 ! inherited focal segmental glomerulosclerosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14258 {source="MONDO:mim2gene_medgen"} ! CD2AP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011918
name: anxiety
synonym: "anxiety" EXACT [OMIM:607834]
synonym: "anxiety-related personality traits" EXACT [OMIM:607834, OMIM:genemap2]
synonym: "harm avoidance" RELATED [OMIM:607834]
xref: MEDGEN:1613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001007 {source="MONDO:equivalentTo"}
xref: OMIM:607834 {source="MONDO:equivalentTo"}
xref: UMLS:C0003467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005618 ! anxiety disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11050 {source="MONDO:mim2gene_medgen"} ! SLC6A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011919
name: autoimmune disease, susceptibility to, 1
def: "Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "AIS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607836]
synonym: "autoimmune disease caused by mutation in FOXD3" EXACT [MONDO:design_pattern]
synonym: "autoimmune disease susceptibility locus, chromosome 1P-related" RELATED [OMIM:607836]
synonym: "autoimmune disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607836]
synonym: "autoimmune disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607836]
synonym: "FOXD3 autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to autoimmune disease 1" RELATED [OMIM:607836]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 2" RELATED [OMIM:607836]
xref: MEDGEN:335848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607836 {source="MONDO:equivalentTo"}
xref: Orphanet:247871 {source="OMIM:607836"}
xref: UMLS:C1842979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335848"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3804 ! FOXD3
intersection_of: predisposes_towards MONDO:0007179 ! autoimmune disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3804 {source="MONDO:mim2gene_medgen"} ! FOXD3

[Term]
id: MONDO:0011920
name: autosomal dominant nonsyndromic hearing loss 48
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 48" NARROW [DOID:0110571]
synonym: "autosomal dominant nonsyndromic deafness 48" NARROW [OMIM:607841]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO1A" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 48" NARROW [DOID:0110571, MONDORULE:2]
synonym: "deafness, autosomal dominant 48" NARROW [MONDO:Lexical, OMIM:607841, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 48" NARROW [MONDORULE:2, OMIM:607841]
synonym: "DFNA48" NARROW ABBREVIATION [DOID:0110571, MONDO:Lexical, OMIM:607841]
synonym: "MYO1A autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110571 {source="MONDO:equivalentTo"}
xref: GARD:18120 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110571"}
xref: MEDGEN:375052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564322 {source="MONDO:equivalentTo"}
xref: OMIM:607841 {source="MONDO:equivalentTo", source="DOID:0110571"}
xref: UMLS:C1842939 {source="MEDGEN:375052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:607841", source="DOID:0110571", source="MONDO:Redundant", source="OMIM:607841"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7595 ! MYO1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7595 {source="MONDO:mim2gene_medgen"} ! MYO1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011921
name: aural atresia, congenital
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18275", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aural atresia, congenital" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607842]
synonym: "aural atresia, congenital, with hyposmia" RELATED [OMIM:607842]
synonym: "CAA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607842]
xref: GARD:18275 {source="MONDO:GARD"}
xref: MEDGEN:375051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564321 {source="MONDO:equivalentTo"}
xref: OMIM:607842 {source="MONDO:equivalentTo"}
xref: Orphanet:141074 {source="OMIM:607842"}
xref: UMLS:C1842937 {source="MEDGEN:375051", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10669 {source="MONDO:mim2gene_medgen"} ! TSHZ1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011922
name: nonimmune chronic idiopathic neutropenia of adults
subset: gard_rare {source="GARD:16605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2688"}
subset: orphanet_rare {source="Orphanet:2688"}
subset: rare
synonym: "adult idiopathic neutropenia" EXACT [Orphanet:2688]
synonym: "neutropenia, nonimmune chronic idiopathic, of adults" EXACT [OMIM:607847]
synonym: "NI-CINA" EXACT [OMIM:607847]
synonym: "nonimmune chronic idiopathic neutropenia of adults" EXACT [OMIM:607847]
xref: GARD:16605 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="MONDO:relatedTo", source="Orphanet:2688", source="Orphanet:2688/ntbt"}
xref: MEDGEN:375050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564320 {source="MONDO:equivalentTo"}
xref: OMIM:607847 {source="MONDO:equivalentTo", source="Orphanet:2688", source="Orphanet:2688/e"}
xref: Orphanet:2688 {source="OMIM:607847", source="MONDO:equivalentTo"}
xref: UMLS:C1842930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375050"}
is_a: MONDO:0003847 {source="OMIM:607847"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0015822 {source="Orphanet:2688", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acquired neutropenia
relationship: has_characteristic MONDO:0700005 {source="OMIM:607847"} ! idiopathic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4237 {source="MONDO:mim2gene_medgen"} ! GFI1

[Term]
id: MONDO:0011923
name: osteoarthritis susceptibility 3
def: "Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ASPN osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607850]
synonym: "osteoarthritis caused by mutation in ASPN" EXACT [MONDO:design_pattern]
synonym: "osteoarthritis of knee/hip" RELATED [OMIM:607850]
synonym: "osteoarthritis susceptibility 3" EXACT [MONDO:Lexical, OMIM:607850]
synonym: "osteoarthritis susceptibility type 3" EXACT [MONDORULE:1, OMIM:607850]
xref: MEDGEN:382650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607850 {source="MONDO:equivalentTo"}
xref: UMLS:C2675609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382650"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14872 ! ASPN
intersection_of: predisposes_towards MONDO:0005178 ! osteoarthritis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14872 {source="MONDO:mim2gene_medgen"} ! ASPN

[Term]
id: MONDO:0011924
name: panic disorder 2
synonym: "Pand2" RELATED [OMIM:607853]
synonym: "panic disorder 2" EXACT [OMIM:607853]
synonym: "panic disorder susceptibility locus, chromosome 9Q-related" RELATED [OMIM:607853]
synonym: "panic disorder type 2" EXACT [MONDORULE:1, OMIM:607853]
xref: MEDGEN:375048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607853 {source="MONDO:equivalentTo"}
xref: UMLS:C1842922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375048"}
is_a: MONDO:0003847 {source="OMIM:607853"} ! hereditary disease
is_a: MONDO:0031240 {source="DC-OMIM:607853", source="OMIM:607853"} ! familial panic disorder

[Term]
id: MONDO:0011925
name: congenital merosin-deficient muscular dystrophy 1A
def: "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." [Orphanet:258]
subset: gard_rare {source="GARD:3843", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:258"}
subset: ordo_malformation_syndrome {source="Orphanet:258"}
subset: orphanet_rare {source="Orphanet:258"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMD1A" EXACT ABBREVIATION [DOID:0110636, Orphanet:258]
synonym: "congenital merosin-deficient muscular dystrophy type 1A" EXACT [DOID:0110636, MONDORULE:4]
synonym: "congenital muscular dystrophy caused by mutation in LAMA2" EXACT [MONDO:design_pattern]
synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT [DOID:0110636, Orphanet:258]
synonym: "congenital muscular dystrophy type 1A" RELATED [Orphanet:258]
synonym: "LAMA2 congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LAMA2-related muscular dystrophy" RELATED [GARD:0003843]
synonym: "laminin alpha-2 deficiency" RELATED [GARD:0003843]
synonym: "MDC1A" EXACT ABBREVIATION [DOID:0110636, MONDO:Lexical, OMIM:607855, Orphanet:258]
synonym: "merosin-deficient congenital muscular dystrophy" RELATED [GARD:0003843]
synonym: "merosin-deficient congenital muscular dystrophy type 1A" EXACT [NCIT:C118783]
synonym: "merosin-negative congenital muscular dystrophy" EXACT [DOID:0110636, Orphanet:258]
synonym: "muscular dystrophy, congenital merosin-deficient" RELATED [OMIM:607855]
synonym: "muscular dystrophy, congenital merosin-deficient, 1A" RELATED [MONDO:Lexical, OMIM:607855]
synonym: "muscular dystrophy, congenital merosin-deficient, type 1A" EXACT [MONDORULE:4, OMIM:607855]
synonym: "muscular dystrophy, congenital, due to partial LAMA2 deficiency" RELATED [OMIM:607855]
synonym: "muscular dystrophy, congenital, merosin deficient or partially deficient" EXACT [OMIM:607855, OMIM:genemap2]
synonym: "muscular dystrophy, congenital, merosin-deficient" RELATED [GARD:0003843]
xref: DOID:0110636 {source="MONDO:equivalentTo"}
xref: GARD:3843 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:258", source="DOID:0110636", source="Orphanet:258/attributed", source="Orphanet:258/ntbt"}
xref: MEDGEN:224728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200861 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118783 {source="MONDO:equivalentTo"}
xref: OMIM:607855 {source="Orphanet:258", source="DOID:0110636", source="MONDO:equivalentTo", source="Orphanet:258/e"}
xref: Orphanet:258 {source="OMIM:607855", source="DOID:0110636", source="MONDO:equivalentTo"}
xref: SCTID:111503008 {source="MONDO:equivalentTo"}
xref: UMLS:C1263858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224728"}
is_a: MONDO:0019950 {source="DOID:0110636", source="MONDO:Redundant", source="Orphanet:258"} ! congenital muscular dystrophy
is_a: MONDO:0020121 {source="DOID:0110636/inferred", source="MONDO:Redundant", source="NCIT:C118783", source="Orphanet:258/inferred"} ! muscular dystrophy
is_a: MONDO:0100228 {source="PMID:30055037", source="https://clinicalgenome.org/affiliation/40031/"} ! LAMA2-related muscular dystrophy
intersection_of: MONDO:0019950 ! congenital muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 ! LAMA2
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 {source="MONDO:mim2gene_medgen"} ! LAMA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011926
name: psoriasis 9, susceptibility to
synonym: "psoriasis 9, susceptibility to" EXACT [MONDO:Lexical, OMIM:607857]
synonym: "psoriasis susceptibility 9" EXACT [OMIM:607857, OMIM:genemap2]
synonym: "PSORS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607857]
xref: DOID:0111284 {source="MONDO:equivalentTo"}
xref: MEDGEN:334635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607857 {source="MONDO:equivalentTo"}
xref: UMLS:C1842897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334635"}
is_a: MONDO:0100171 {source="OMIM:607857"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:607857", source="OMIM:607857"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011927
name: tufted angioma
def: "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood." [Orphanet:1063]
subset: gard_rare {source="GARD:425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1063"}
subset: orphanet_rare {source="Orphanet:1063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioblastoma of Nakagawa" EXACT [NCIT:C4487]
synonym: "angioma tufted" RELATED [GARD:0000425]
synonym: "angioma, tufted" RELATED [OMIM:607859]
synonym: "Nakagawa angioblastoma" EXACT [Orphanet:1063]
synonym: "tufted angioma" EXACT [MONDO:ambiguous, NCIT:C4487, OMIM:607859]
synonym: "tufted angioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "tufted angioma of skin" EXACT [NCIT:C4487]
synonym: "tufted angioma of the skin" EXACT [NCIT:C4487]
synonym: "tufted hemangioma" EXACT [NCIT:C4487]
synonym: "tufted hemangioma of skin" EXACT [NCIT:C4487]
synonym: "tufted hemangioma of the skin" EXACT [NCIT:C4487]
synonym: "tufted skin angioma" EXACT [NCIT:C4487]
xref: GARD:425 {source="MONDO:GARD"}
xref: HP:0012329 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D18.0 {source="Orphanet:1063/attributed", source="Orphanet:1063/ntbt", source="Orphanet:1063"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9161/0 {source="NCIT:C4487"}
xref: MEDGEN:83402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536924 {source="Orphanet:1063/e", source="MONDO:equivalentTo", source="Orphanet:1063"}
xref: NCIT:C4487 {source="MONDO:equivalentTo"}
xref: OMIM:607859 {source="Orphanet:1063/e", source="MONDO:equivalentTo", source="Orphanet:1063"}
xref: Orphanet:1063 {source="MONDO:equivalentTo", source="OMIM:607859"}
xref: SCTID:705155008 {source="MONDO:equivalentTo"}
xref: UMLS:C0346073 {source="MEDGEN:83402", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003110 {source="NCIT:C4487"} ! skin hemangioma
is_a: MONDO:0024296 {source="Orphanet:1063"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: IAO:0000589 "tufted angioma (disease)" xsd:string

[Term]
id: MONDO:0011928
name: caudal duplication
def: "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." [Orphanet:1756]
subset: gard_rare {source="GARD:1164", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1756"}
subset: ordo_malformation_syndrome {source="Orphanet:1756"}
subset: orphanet_rare {source="Orphanet:1756"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "caudal DUPLICATION anomaly" RELATED [OMIM:607864]
synonym: "dipygus" EXACT [Orphanet:1756]
synonym: "split notochord syndrome" EXACT [Orphanet:1756]
xref: GARD:1164 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1756", source="Orphanet:1756/attributed", source="Orphanet:1756/ntbt"}
xref: MEDGEN:335822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564315 {source="MONDO:equivalentTo"}
xref: OMIM:607864 {source="MONDO:equivalentTo", source="Orphanet:1756", source="Orphanet:1756/e"}
xref: Orphanet:1756 {source="OMIM:607864", source="MONDO:equivalentTo"}
xref: SCTID:71464000 {source="MONDO:equivalentTo"}
xref: UMLS:C1842884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335822"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0004335 {source="https://orcid.org/0000-0002-4142-7153"} ! digestive system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/903 {source="MONDO:mim2gene_medgen"} ! AXIN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication" xsd:anyURI {source="GARD:0001164"}

[Term]
id: MONDO:0011929
name: chromosome 1p36 deletion syndrome
def: "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." [Orphanet:1606]
subset: gard_rare {source="GARD:6082", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1606"}
subset: ordo_malformation_syndrome {source="Orphanet:1606"}
subset: orphanet_rare {source="Orphanet:1606"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1p telomere deletion syndrome" EXACT [NCIT:C74983]
synonym: "1p36 deletion syndrome" EXACT [DOID:0060410]
synonym: "1p36 microdeletion syndrome" EXACT [DECIPHER:18]
synonym: "chromosome 1p36 deletion syndrome" EXACT [OMIM:607872]
synonym: "chromosome 1p36 deletion syndrome, distal, isolated cases" EXACT [OMIM:607872, OMIM:genemap2]
synonym: "Del(1)(p36)" EXACT [Orphanet:1606]
synonym: "deletion 1p36" EXACT [DOID:0060410, Orphanet:1606]
synonym: "deletion 1pter" EXACT [Orphanet:1606]
synonym: "monosomy 1p36" EXACT [DECIPHER:18, DOID:0060410, Orphanet:1606]
synonym: "monosomy 1P36 syndrome" RELATED [OMIM:607872]
synonym: "monosomy 1pter" EXACT [Orphanet:1606]
synonym: "subtelomeric 1p36 deletion" EXACT [DOID:0060410, Orphanet:1606]
xref: DECIPHER:18 {source="MONDO:equivalentTo"}
xref: DOID:0060410 {source="MONDO:equivalentTo"}
xref: GARD:6082 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1606/attributed", source="Orphanet:1606/ntbt", source="Orphanet:1606"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:334629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535362 {source="DOID:0060410", source="MONDO:equivalentTo"}
xref: NANDO:1200682 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C74983 {source="DOID:0060410", source="MONDO:equivalentTo"}
xref: OMIM:607872 {source="Orphanet:1606/e", source="DOID:0060410", source="MONDO:equivalentTo", source="Orphanet:1606"}
xref: Orphanet:1606 {source="DOID:0060410", source="MONDO:equivalentTo", source="OMIM:607872"}
xref: SCTID:699306003 {source="DOID:0060410", source="MONDO:equivalentTo"}
xref: UMLS:C1842870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334629"}
is_a: MONDO:0000761 {source="DC-OMIM:607872", source="DOID:0060410"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016883 {source="Orphanet:1606"} ! partial deletion of the short arm of chromosome 1
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1p36 ! 1p36 (Human)
relationship: disease_has_feature HP:0001250 {source="Orphanet:1606"} ! Seizure
relationship: disease_has_feature HP:0001644 {source="Orphanet:1606"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:1606", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015955"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome" xsd:anyURI {source="GARD:0006082"}

[Term]
id: MONDO:0011930
name: epilepsy, familial adult myoclonic, 2
def: "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18083", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADRA2B epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "benign adult familial myoclonic epilepsy 2" RELATED [OMIM:607876]
synonym: "cortical myoclonic tremor with epilepsy, familial, 2" RELATED [OMIM:607876]
synonym: "cortical myoclonus and epilepsy, autosomal dominant" RELATED [OMIM:607876]
synonym: "epilepsy, familial adult myoclonic caused by mutation in ADRA2B" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial ADULT myoclonic, 2" RELATED [OMIM:607876]
synonym: "epilepsy, familial adult myoclonic, 2" EXACT [MONDO:Lexical, OMIM:607876]
synonym: "epilepsy, familial adult myoclonic, type 2" EXACT [MONDORULE:1, OMIM:607876]
synonym: "FAME2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607876]
xref: DOID:0111692 {source="MONDO:equivalentTo"}
xref: GARD:18083 {source="MONDO:GARD"}
xref: MEDGEN:375031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564313 {source="MONDO:equivalentTo"}
xref: OMIM:607876 {source="MONDO:equivalentTo"}
xref: Orphanet:86814 {source="OMIM:607876"}
xref: UMLS:C1842852 {source="MEDGEN:375031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000160 {source="DC-OMIM:607876", source="MONDO:Redundant", source="OMIM:607876"} ! epilepsy, familial adult myoclonic
intersection_of: MONDO:0000160 ! epilepsy, familial adult myoclonic
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/282 ! ADRA2B
relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/282 {source="MONDO:mim2gene_medgen"} ! ADRA2B

[Term]
id: MONDO:0011931
name: ovarian cancer, susceptibility to, 1
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "ovarian cancer, susceptibility to" EXACT [OMIM:607893, OMIM:genemap2]
synonym: "ovarian cancer, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607893]
synonym: "OVCAS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607893]
xref: MEDGEN:390836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607893 {source="MONDO:equivalentTo"}
xref: UMLS:C2675601 {source="MONDO:equivalentTo", source="MEDGEN:390836", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:607893", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0008170 {source="OMIM:607893", source="https://orcid.org/0000-0001-5208-3432"} ! ovarian cancer
relationship: predisposes_towards MONDO:0008170 {source="OMIM:607893"} ! ovarian cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011932
name: hypotrichosis 6
def: "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15423", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive localised hypotrichosis" EXACT OMO:0003005 []
synonym: "autosomal recessive localized hypotrichosis" EXACT [DOID:0110703]
synonym: "DSG4 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Htl" RELATED [OMIM:607903]
synonym: "hypotrichosis 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607903]
synonym: "hypotrichosis caused by mutation in DSG4" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 6" EXACT [DOID:0110703, MONDORULE:1, OMIM:607903]
synonym: "hypotrichosis, localized, autosomal recessive" RELATED [OMIM:607903]
synonym: "hypotrichosis, localized, autosomal recessive 1" EXACT [DOID:0110703, OMIM:607903]
synonym: "HYPT6" EXACT ABBREVIATION [DOID:0110703, MONDO:Lexical, OMIM:607903]
synonym: "Lah1" EXACT [DOID:0110703]
synonym: "monilethrix-like hypotrichosis" EXACT [DOID:0110703, OMIM:607903]
xref: DOID:0110703 {source="MONDO:equivalentTo"}
xref: GARD:15423 {source="MONDO:GARD"}
xref: MEDGEN:335812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564312 {source="MONDO:equivalentTo"}
xref: OMIM:607903 {source="DOID:0110703", source="MONDO:equivalentTo"}
xref: Orphanet:55654 {source="OMIM:607903"}
xref: UMLS:C1842839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335812"}
is_a: MONDO:0003037 {source="DOID:0110703", source="MESH:C564312", source="MONDO:Redundant", source="OMIM:607903"} ! hypotrichosis
is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21307 ! DSG4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21307 {source="MONDO:mim2gene_medgen"} ! DSG4

[Term]
id: MONDO:0011933
name: ALG2-congenital disorder of glycosylation
def: "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive." [Orphanet:79326]
subset: gard_rare {source="GARD:9836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79326"}
subset: orphanet_rare {source="Orphanet:79326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG2-CDG" EXACT ABBREVIATION [Orphanet:79326]
synonym: "ALG2-CDG (CDG-II)" RELATED [GARD:0009836]
synonym: "ALG2-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "carbohydrate deficient glycoprotein syndrome type Ii" EXACT [Orphanet:79326]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1I" RELATED [GARD:0009836]
synonym: "CDG 1I" EXACT [GARD:0009836]
synonym: "CDG Ii" EXACT [OMIM:607906]
synonym: "CDG syndrome type Ii" EXACT [Orphanet:79326]
synonym: "CDG1I" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607906, Orphanet:79326]
synonym: "congenital disorder of glycosylation type 1i" EXACT [Orphanet:79326]
synonym: "congenital disorder of glycosylation type Ii" EXACT [Orphanet:79326]
synonym: "congenital disorder of glycosylation, type Ii" EXACT [MONDO:Lexical, OMIM:607906]
synonym: "mannosyltransferase 2 deficiency" EXACT [Orphanet:79326]
xref: DOID:0080561 {source="MONDO:equivalentTo"}
xref: GARD:9836 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79326", source="Orphanet:79326/attributed", source="Orphanet:79326/ntbt"}
xref: MEDGEN:334618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607906 {source="Orphanet:79326", source="MONDO:equivalentTo", source="Orphanet:79326/e"}
xref: Orphanet:79326 {source="MONDO:equivalentTo", source="OMIM:607906"}
xref: UMLS:C1842836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334618"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:607906"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MONDO:0011933/inferred", source="MONDO:Redundant", source="OMIM:607906", source="Orphanet:79326/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79326"} ! disorder of protein N-glycosylation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23159 {source="MONDO:mim2gene_medgen"} ! ALG2

[Term]
id: MONDO:0011934
name: dermatofibrosarcoma protuberans
def: "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)." [Orphanet:31112]
subset: gard_rare {source="GARD:9569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31112"}
subset: orphanet_rare {source="Orphanet:31112"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dermatofibrosarcoma" EXACT [NCIT:C4683]
synonym: "dermatofibrosarcoma protuberans" EXACT [MONDO:Lexical, OMIM:607907]
synonym: "DFSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607907, Orphanet:31112]
synonym: "familial dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569]
synonym: "giant cell fibroblastoma" RELATED [OMIM:607907]
synonym: "metastatic dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569]
xref: DOID:3507 {source="MONDO:equivalentTo"}
xref: GARD:9569 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:31112", source="Orphanet:31112/attributed", source="Orphanet:31112/ntbt"}
xref: ICDO:8832/3 {source="NCIT:C4683"}
xref: MedDRA:10057070 {source="Orphanet:31112", source="Orphanet:31112/e"}
xref: MEDGEN:811326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538219 {source="Orphanet:31112", source="Orphanet:31112/e"}
xref: MESH:D018223 {source="MONDO:equivalentTo", source="DOID:3507"}
xref: NCIT:C4683 {source="MONDO:equivalentTo"}
xref: OMIM:607907 {source="Orphanet:31112", source="MONDO:equivalentTo", source="Orphanet:31112/e"}
xref: ONCOTREE:DFSP {source="MONDO:equivalentTo"}
xref: Orphanet:31112 {source="MONDO:equivalentTo", source="OMIM:607907"}
xref: SCTID:134160009 {source="DOID:3507"}
xref: SCTID:276799004 {source="MONDO:equivalentTo", source="DOID:3507"}
xref: SCTID:302844005 {source="DOID:3507"}
xref: SCTID:76594008 {source="DOID:3507"}
xref: UMLS:C3693482 {source="MEDGEN:811326", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000653 {source="MONDO:Redundant", source="MONDO:indirect"} ! integumentary system cancer
is_a: MONDO:0005164 {source="DOID:3507"} ! fibrosarcoma
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:31112", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8800 {source="MONDO:mim2gene_medgen"} ! PDGFB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans" xsd:anyURI {source="GARD:0009569"}

[Term]
id: MONDO:0011935
name: retinitis pigmentosa 30
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10401", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FSCN2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular Degeneration" RELATED [OMIM:607921]
synonym: "retinitis pigmentosa 30" EXACT [MONDO:Lexical, OMIM:607921]
synonym: "retinitis pigmentosa caused by mutation in FSCN2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 30" EXACT [DOID:0110406, MONDORULE:2, OMIM:607921]
synonym: "RP 30" RELATED [GARD:0010401]
synonym: "RP30" EXACT ABBREVIATION [DOID:0110406, MONDO:Lexical, OMIM:607921]
xref: DOID:0110406 {source="MONDO:equivalentTo"}
xref: GARD:10401 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110406"}
xref: MEDGEN:334614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607921 {source="DOID:0110406", source="MONDO:equivalentTo"}
xref: UMLS:C1842816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334614"}
is_a: MONDO:0019200 {source="DC-OMIM:607921", source="DOID:0110406", source="MONDO:Redundant", source="OMIM:607921"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3960 ! FSCN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3960 {source="MONDO:mim2gene_medgen"} ! FSCN2

[Term]
id: MONDO:0011936
name: microphthalmia with brain and digit anomalies
def: "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." [Orphanet:139471]
subset: gard_rare {source="GARD:3645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139471"}
subset: ordo_malformation_syndrome {source="Orphanet:139471"}
subset: orphanet_rare {source="Orphanet:139471"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" RELATED [GARD:0003645]
synonym: "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia" RELATED [OMIM:607932]
synonym: "Bakrania-Ragge syndrome" EXACT [Orphanet:139471]
synonym: "MCOPS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607932, Orphanet:139471]
synonym: "microphthalmia and pituitary anomalies" RELATED [OMIM:607932]
synonym: "microphthalmia syndromic 6" RELATED [GARD:0003645]
synonym: "microphthalmia with brain and digit anomalies" EXACT CLINGEN_LABEL []
synonym: "microphthalmia with brain and digit developmental anomalies" RELATED [OMIM:607932]
synonym: "microphthalmia, syndromic 6" RELATED [MONDO:Lexical, OMIM:607932]
synonym: "microphthalmia, syndromic type 6" EXACT [MONDORULE:1, OMIM:607932]
synonym: "syndromic microphthalmia type 6" EXACT [Orphanet:139471]
xref: DOID:0111805 {source="MONDO:equivalentTo"}
xref: GARD:3645 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:139471", source="Orphanet:139471/attributed", source="Orphanet:139471/ntbt"}
xref: MEDGEN:355268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566440 {source="MONDO:equivalentTo"}
xref: OMIM:607932 {source="MONDO:equivalentTo", source="Orphanet:139471", source="Orphanet:139471/e"}
xref: Orphanet:139471 {source="OMIM:607932", source="MONDO:equivalentTo"}
xref: SCTID:721878003 {source="MONDO:equivalentTo"}
xref: UMLS:C1864689 {source="MONDO:equivalentTo", source="MEDGEN:355268", source="MONDO:MEDGEN"}
is_a: MONDO:0016073 {source="DC-OMIM:607932", source="OMIM:607932", source="Orphanet:139471"} ! syndromic microphthalmia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1071 {source="MONDO:mim2gene_medgen"} ! BMP4

[Term]
id: MONDO:0011937
name: peeling skin syndrome 4
def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CSTA peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ichthyosis bullosa of Siemens-like" RELATED [OMIM:607936]
synonym: "ichthyosis, exfoliative, autosomal recessive" RELATED [OMIM:607936]
synonym: "peeling skin syndrome 4" EXACT [MONDO:Lexical, OMIM:607936]
synonym: "peeling skin syndrome caused by mutation in CSTA" EXACT [MONDO:design_pattern]
synonym: "peeling skin syndrome type 4" EXACT [MONDORULE:1, OMIM:607936]
synonym: "PSS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607936]
xref: DOID:0070523 {source="MONDO:equivalentTo"}
xref: GARD:18426 {source="MONDO:GARD"}
xref: MEDGEN:895692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564309 {source="MONDO:equivalentTo"}
xref: OMIM:607936 {source="MONDO:equivalentTo"}
xref: Orphanet:289586 {source="OMIM:607936"}
xref: UMLS:C4225407 {source="MEDGEN:895692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017339 {source="Orphanet:289586/btnt"} ! exfoliative ichthyosis
is_a: MONDO:0019347 {source="DC-OMIM:607936", source="MONDO:Redundant", source="OMIM:607936"} ! peeling skin syndrome
intersection_of: MONDO:0019347 ! peeling skin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2481 ! CSTA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2481 {source="MONDO:mim2gene_medgen"} ! CSTA

[Term]
id: MONDO:0011938
name: atrial septal defect 2
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ASD2" EXACT ABBREVIATION [DOID:0110107, MONDO:Lexical, OMIM:607941]
synonym: "atrial heart septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 2" EXACT [DOID:0110107, MONDORULE:1]
synonym: "atrial septal defect 2" EXACT CLINGEN_LABEL [DOID:0110107, MONDO:Lexical, OMIM:607941]
synonym: "atrial septal defect type 2" EXACT [MONDORULE:1, OMIM:607941]
synonym: "GATA4 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110107 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q21.1 {source="DOID:0110107"}
xref: MEDGEN:334249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538263 {source="MONDO:equivalentTo"}
xref: OMIM:607941 {source="DOID:0110107", source="MONDO:equivalentTo"}
xref: Orphanet:1478 {source="OMIM:607941"}
xref: UMLS:C1842778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334249"}
is_a: MONDO:0006664 {source="DC-OMIM:607941", source="DOID:0110107", source="MESH:C538263", source="MONDO:Redundant", source="OMIM:607941"} ! atrial septal defect
intersection_of: MONDO:0006664 ! atrial septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4

[Term]
id: MONDO:0011939
name: Spondyloenchondrodysplasia with immune dysregulation
subset: gard_rare {source="GARD:4978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1855"}
subset: ordo_malformation_syndrome {source="Orphanet:1855"}
subset: orphanet_rare {source="Orphanet:1855"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" EXACT [OMIM:607944]
synonym: "Roifman Immunoskeletal syndrome" EXACT [OMIM:607944]
synonym: "SEM" RELATED ABBREVIATION [GARD:0004978]
synonym: "SPENCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271550, Orphanet:1855]
synonym: "SPENCDI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607944]
synonym: "spondyloenchondrodysplasia" EXACT [MONDO:0010071, MONDO:Lexical, OMIM:271550]
synonym: "Spondyloenchondrodysplasia with immune dysregulation" EXACT CLINGEN_LABEL []
synonym: "spondyloenchondrodysplasia with immune dysregulation" EXACT [MONDO:Lexical, OMIM:607944]
synonym: "spondyloenchondromatosis" EXACT [OMIM:271550, Orphanet:1855]
synonym: "spondylometaphyseal dysplasia with combined immunodeficiency" EXACT [Orphanet:50816]
synonym: "spondylometaphyseal dysplasia with enchondromatous changes" EXACT [OMIM:271550, Orphanet:1855]
xref: GARD:4978 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:1855", source="Orphanet:1855/attributed", source="Orphanet:1855/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:375009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535782 {source="MONDO:relatedTo", source="Orphanet:1855", source="Orphanet:1855/e"}
xref: MESH:C564307 {source="MONDO:equivalentTo"}
xref: NANDO:2200744 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:271550 {source="MONDO:equivalentObsolete", source="Orphanet:1855", source="Orphanet:1855/e"}
xref: OMIM:607944 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:1855 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:271550"}
xref: Orphanet:50816 {source="OMIM:607944", source="MONDO:equivalentObsolete"}
xref: SCTID:254079002 {source="MONDO:relatedTo"}
xref: SCTID:703523004 {source="MONDO:equivalentTo"}
xref: UMLS:C1842763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375009"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="MESH:C564307/inferred"} ! hereditary disease
is_a: MONDO:0016763 {source="OMIM:607944", source="Orphanet:1855", source="PMID:31633310"} ! spondylometaphyseal dysplasia
is_a: MONDO:0957408 {source="Orphanet:1855", source="PMID:37161741"} ! type 1 interferonopathy of childhood
intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/124 ! ACP5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/124 {source="MONDO:mim2gene_medgen"} ! ACP5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia" xsd:anyURI {source="GARD:0004978"}

[Term]
id: MONDO:0011940
name: obsolete Mycobacterium tuberculosis, susceptibility to
xref: GARD:2456 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7616" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000070

[Term]
id: MONDO:0011941
name: Mycobacterium tuberculosis, susceptibility to, 1
subset: predisposition
synonym: "MTBS1" RELATED ABBREVIATION [OMIM:607949]
synonym: "Mycobacterium tuberculosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607949]
synonym: "tuberculosis, susceptibility to" BROAD [OMIM:607949, OMIM:genemap2]
xref: MEDGEN:334244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607949 {source="MONDO:equivalentTo"}
xref: UMLS:C1842762 {source="MEDGEN:334244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000070 {source="DC-OMIM:607949"} ! Mycobacterium tuberculosis, susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011942
name: systemic lupus erythematosus with nephritis, susceptibility to, 1
subset: predisposition
synonym: "SLEN1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607965]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607965]
xref: MEDGEN:335794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607965 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:607965"}
xref: UMLS:C1842757 {source="MEDGEN:335794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0011943
name: systemic lupus erythematosus with nephritis, susceptibility to, 2
subset: predisposition
synonym: "SLEN2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607966]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607966]
xref: MEDGEN:375006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607966 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:607966"}
xref: UMLS:C1842756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375006"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0011944
name: systemic lupus erythematosus with nephritis, susceptibility to, 3
subset: predisposition
synonym: "SLEN3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607967]
synonym: "systemic lupus erythematosus with nephritis, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:607967]
xref: MEDGEN:335793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607967 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:607967"}
xref: UMLS:C1842755 {source="MEDGEN:335793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0011945
name: Gaucher disease perinatal lethal
def: "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." [Orphanet:85212]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0003-4830-7530)
subset: gard_rare {source="GARD:10675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:85212"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fetal Gaucher disease" EXACT [DOID:0110960]
synonym: "foetal Gaucher disease" EXACT OMO:0003005 []
synonym: "Gaucher disease collodion type" EXACT [GARD:0010675]
synonym: "Gaucher disease perinatal lethal" EXACT CLINGEN_LABEL [GARD:0010675]
synonym: "Gaucher disease, collodion type" EXACT [DOID:0110960, OMIM:608013]
synonym: "Gaucher disease, perinatal lethal" EXACT [OMIM:608013]
synonym: "Gaucher disease, perinatal-lethal form" EXACT [GARD:0010675]
synonym: "Gaucher's disease perinatal lethal" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "perinatal lethal Gaucher disease" EXACT [GARD:0010675, Orphanet:85212]
xref: DOID:0110960 {source="MONDO:equivalentTo"}
xref: GARD:10675 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:85212/attributed", source="Orphanet:85212/ntbt", source="Orphanet:85212", source="DOID:0110960"}
xref: MEDGEN:374996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564306 {source="MONDO:equivalentTo"}
xref: OMIM:608013 {source="Orphanet:85212", source="MONDO:equivalentTo", source="GARD:0010675", source="Orphanet:85212/e", source="DOID:0110960"}
xref: Orphanet:355 {source="OMIM:608013"}
xref: Orphanet:85212 {source="MONDO:equivalentTo", source="GARD:0010675", source="OMIM:608013", source="DOID:0110960"}
xref: UMLS:C1842704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374996"}
is_a: MONDO:0018150 {source="DC-OMIM:608013", source="DOID:0110960", source="MESH:C564306", source="Orphanet:85212"} ! Gaucher disease
relationship: disease_has_basis_in_disruption_of GO:0004348 {source="PMID:21502308"} ! glucosylceramidase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="MONDO:mim2gene_medgen"} ! GBA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal" xsd:anyURI {source="GARD:0010675"}

[Term]
id: MONDO:0011946
name: diaphanospondylodysostosis
def: "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." [Orphanet:66637]
subset: gard_rare {source="GARD:16674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66637"}
subset: ordo_malformation_syndrome {source="Orphanet:66637"}
subset: orphanet_rare {source="Orphanet:66637"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diaphanospondylodysostosis" EXACT CLINGEN_LABEL [OMIM:608022]
synonym: "vertebral ossification, defect in, with nephrogenic rests" EXACT [OMIM:608022]
xref: GARD:16674 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:66637", source="Orphanet:66637/attributed", source="Orphanet:66637/ntbt"}
xref: MEDGEN:374993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564305 {source="MONDO:equivalentTo"}
xref: OMIM:608022 {source="MONDO:equivalentTo", source="Orphanet:66637", source="Orphanet:66637/e"}
xref: Orphanet:66637 {source="MONDO:equivalentTo", source="OMIM:608022"}
xref: SCTID:721094006 {source="MONDO:equivalentTo"}
xref: UMLS:C1842691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374993"}
is_a: MONDO:0019694 {source="Orphanet:66637"} ! spondylodysplastic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24154 {source="MONDO:mim2gene_medgen"} ! BMPER
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011947
name: obsolete HNP1
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3600" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024633

[Term]
id: MONDO:0011948
name: pontocerebellar hypoplasia type 3
def: "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." [Orphanet:97249]
subset: gard_rare {source="GARD:10708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97249"}
subset: ordo_malformation_syndrome {source="Orphanet:97249"}
subset: orphanet_rare {source="Orphanet:97249"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar atrophy with progressive microcephaly" EXACT [OMIM:608027, Orphanet:97249]
synonym: "clam" EXACT [Orphanet:97249]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO" EXACT [MONDO:design_pattern]
synonym: "PCH with optic atrophy" EXACT [Orphanet:97249]
synonym: "Pch with optic atrophy" RELATED [OMIM:608027]
synonym: "PCH without dyskinesia" EXACT [Orphanet:97249]
synonym: "PCH3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608027, Orphanet:97249]
synonym: "PCLO non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical, OMIM:608027]
xref: DOID:0060272 {source="MONDO:equivalentTo"}
xref: GARD:10708 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:97249/attributed", source="Orphanet:97249/ntbt", source="Orphanet:97249"}
xref: MEDGEN:334225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548072 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"}
xref: OMIM:608027 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"}
xref: Orphanet:97249 {source="MONDO:equivalentTo", source="DOID:0060272", source="OMIM:608027"}
xref: SCTID:718609003 {source="MONDO:equivalentTo"}
xref: UMLS:C1842687 {source="MONDO:equivalentTo", source="MEDGEN:334225", source="MONDO:MEDGEN"}
is_a: MONDO:0020135 {source="DC-OMIM:608027", source="DOID:0060272", source="MONDO:Redundant", source="OMIM:608027", source="Orphanet:97249"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13406 ! PCLO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13406 {source="MONDO:mim2gene_medgen"} ! PCLO
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3" xsd:anyURI {source="GARD:0010708"}

[Term]
id: MONDO:0011949
name: Thai symphalangism syndrome
synonym: "Thai symphalangism syndrome" EXACT [OMIM:608028]
xref: MEDGEN:374990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564303 {source="MONDO:equivalentTo"}
xref: OMIM:608028 {source="MONDO:equivalentTo"}
xref: UMLS:C1842679 {source="MEDGEN:374990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3557/thai-symphalangism-syndrome" xsd:anyURI {source="GARD:0003557"}

[Term]
id: MONDO:0011950
name: infantile-onset autosomal recessive nonprogressive cerebellar ataxia
subset: gard_rare {source="GARD:4954", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284332"}
subset: orphanet_rare {source="Orphanet:284332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [Orphanet:284332]
synonym: "cerebellar ataxia infantile nonprogressive autosomal recessive" RELATED [GARD:0004954]
synonym: "cerebellar ataxia, infantile nonprogressive, autosomal recessive" RELATED [OMIM:608029]
synonym: "Norwegian infantile onset ataxia" RELATED [OMIM:608029]
synonym: "SCAR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608029, Orphanet:284332]
synonym: "spinocerebellar ataxia autosomal recessive 6" RELATED [GARD:0004954]
synonym: "spinocerebellar ataxia, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:608029]
xref: DOID:0111617 {source="MONDO:equivalentTo"}
xref: GARD:4954 {source="MONDO:GARD"}
xref: ICD10CM:G11.0 {source="Orphanet:284332", source="Orphanet:284332/attributed", source="Orphanet:284332/ntbt"}
xref: MEDGEN:334220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537312 {source="MONDO:equivalentTo"}
xref: OMIM:608029 {source="MONDO:equivalentTo", source="Orphanet:284332", source="Orphanet:284332/e"}
xref: Orphanet:284332 {source="OMIM:608029", source="MONDO:equivalentTo"}
xref: UMLS:C1842676 {source="MEDGEN:334220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="Orphanet:284332"} ! autosomal recessive cerebellar ataxia
relationship: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0011951
name: amyotrophic lateral sclerosis type 6
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9874", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS6" EXACT ABBREVIATION [DOID:0060198, MONDO:Lexical, OMIM:608030]
synonym: "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:608030]
synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [DOID:0060198, OMIM:608030]
synonym: "amyotrophic lateral sclerosis caused by mutation in FUS" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [DOID:0060198, OMIM:608030]
synonym: "FUS amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060198 {source="MONDO:equivalentTo"}
xref: GARD:9874 {source="MONDO:GARD"}
xref: MEDGEN:419901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567699 {source="MONDO:equivalentTo"}
xref: OMIM:608030 {source="DOID:0060198", source="MONDO:equivalentTo"}
xref: Orphanet:275872 {source="OMIM:608030"}
xref: Orphanet:803 {source="OMIM:608030"}
xref: UMLS:C2931786 {source="MEDGEN:419901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DOID:0060198", source="MESH:C567699", source="MONDO:Redundant", source="OMIM:608030"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 ! FUS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 {source="MONDO:mim2gene_medgen"} ! FUS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9874/amyotrophic-lateral-sclerosis-type-6" xsd:anyURI {source="GARD:0009874"}

[Term]
id: MONDO:0011952
name: amyotrophic lateral sclerosis type 7
subset: gard_rare {source="GARD:10500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS7" EXACT ABBREVIATION [DOID:0060199, MONDO:Lexical, OMIM:608031]
synonym: "amyotrophic lateral sclerosis 7" EXACT [DOID:0060199, MONDO:Lexical, OMIM:608031]
xref: DOID:0060199 {source="MONDO:equivalentTo"}
xref: GARD:10500 {source="MONDO:GARD"}
xref: MEDGEN:334136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564300 {source="MONDO:equivalentTo"}
xref: OMIM:608031 {source="DOID:0060199", source="MONDO:equivalentTo"}
xref: Orphanet:803 {source="OMIM:608031"}
xref: UMLS:C1842674 {source="MEDGEN:334136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DC-OMIM:608031", source="DOID:0060199", source="MESH:C564300", source="OMIM:608031"} ! familial amyotrophic lateral sclerosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10500/amyotrophic-lateral-sclerosis-type-7" xsd:anyURI {source="GARD:0010500"}

[Term]
id: MONDO:0011953
name: familial acute necrotizing encephalopathy
def: "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen." [Orphanet:88619]
subset: gard_rare {source="GARD:13232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88619"}
subset: orphanet_rare {source="Orphanet:88619"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "acute necrotizing encephalopathy type 1" RELATED [GARD:0013232]
synonym: "ADANE" EXACT ABBREVIATION [Orphanet:88619]
synonym: "ANE1" RELATED ABBREVIATION [GARD:0013232]
synonym: "autosomal dominant acute necrotizing encephalopathy" RELATED [GARD:0013232]
synonym: "encephalopathy, acute necrotizing, susceptibility to" RELATED [OMIM:608033]
synonym: "encephalopathy, acute, infection-induced, 3, susceptibility to" EXACT [OMIM:608033, OMIM:genemap2]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608033]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608033]
synonym: "IIAE3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608033]
synonym: "infection-induced acute encephalopathy 3" RELATED [GARD:0013232]
synonym: "Postinfectious acute necrotizing hemorrhagic encephalopathy" RELATED [GARD:0013232]
synonym: "recurrent acute necrotizing encephalopathy" EXACT [Orphanet:88619]
synonym: "susceptibility to acute infection-induced encephalopathy-3" RELATED [GARD:0013232]
synonym: "susceptibility to acute necrotizing encephalopathy" RELATED [GARD:0013232]
synonym: "susceptibility to infection-induced acute encephalopathy 3" RELATED [GARD:0013232]
xref: GARD:13232 {source="MONDO:GARD"}
xref: MEDGEN:382634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608033 {source="Orphanet:88619/e", source="MONDO:equivalentTo", source="Orphanet:88619"}
xref: Orphanet:88619 {source="MONDO:equivalentTo", source="OMIM:608033"}
xref: SCTID:723359002 {source="MONDO:equivalentTo"}
xref: UMLS:C2675556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382634"}
is_a: MONDO:0000166 {source="DC-OMIM:608033", source="OMIM:608033"} ! encephalopathy, acute, infection-induced
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9848 {source="MONDO:mim2gene_medgen"} ! RANBP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0011954
name: melanoma, cutaneous malignant, susceptibility to, 4
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "CMM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608035]
synonym: "melanoma, cutaneous malignant, 4" EXACT [OMIM:608035, OMIM:genemap2]
synonym: "melanoma, cutaneous malignant, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:608035]
xref: MEDGEN:334129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608035 {source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="OMIM:608035"}
xref: UMLS:C1842643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334129"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:608035", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0011955
name: diabetes mellitus, noninsulin-dependent, 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diabetes mellitus, noninsulin-dependent, 4" EXACT [OMIM:608036]
synonym: "diabetes mellitus, noninsulin-dependent, type 4" EXACT [MONDORULE:1, OMIM:608036]
synonym: "Niddm4" RELATED [OMIM:608036]
synonym: "noninsulin-dependent diabetes mellitus 4" RELATED [OMIM:608036]
xref: MEDGEN:334578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564299 {source="MONDO:equivalentTo"}
xref: OMIM:608036 {source="MONDO:equivalentTo"}
xref: UMLS:C1842642 {source="MEDGEN:334578", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005148 {source="DC-OMIM:608036", source="MESH:C564299"} ! type 2 diabetes mellitus

[Term]
id: MONDO:0011956
name: autism, susceptibility to, 3
subset: predisposition
synonym: "autism susceptibility 3, isolated cases" EXACT [OMIM:608049, OMIM:genemap2]
synonym: "autism, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608049]
synonym: "AUTS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608049]
xref: MEDGEN:334211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608049 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:608049"}
xref: UMLS:C1842632 {source="MEDGEN:334211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011957
name: retinal macular dystrophy type 2
def: "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages." [Orphanet:319640]
subset: gard_rare {source="GARD:17467", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319640"}
subset: orphanet_rare {source="Orphanet:319640"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macular dystrophy, retinal, 2" RELATED [MONDO:Lexical, OMIM:608051]
synonym: "macular dystrophy, retinal, type 2" EXACT [MONDORULE:1, OMIM:608051]
synonym: "MCDR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608051, Orphanet:319640]
xref: DOID:0070517 {source="MONDO:equivalentTo"}
xref: GARD:17467 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:319640", source="Orphanet:319640/attributed", source="Orphanet:319640/ntbt"}
xref: MEDGEN:1666864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562746 {source="MONDO:equivalentTo"}
xref: OMIM:608051 {source="MONDO:equivalentTo", source="Orphanet:319640", source="Orphanet:319640/e"}
xref: Orphanet:319640 {source="OMIM:608051", source="MONDO:equivalentTo"}
xref: UMLS:C4749334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1666864"}
is_a: MONDO:0031166 {source="OMIM:608051"} ! macular dystrophy, retinal
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1

[Term]
id: MONDO:0011958
name: bile and pancreatic ducts, complete absence of
synonym: "bile and pancreatic ducts, complete absence of" EXACT [OMIM:608063]
xref: MEDGEN:374974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564298 {source="MONDO:equivalentTo"}
xref: OMIM:608063 {source="MONDO:equivalentTo"}
xref: UMLS:C1842614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374974"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011959
name: sweet syndrome
def: "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." [Orphanet:3243]
subset: gard_rare {source="GARD:521", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1749", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3243"}
subset: orphanet_rare {source="Orphanet:3243"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute febrile neutrophilic dermatosis" EXACT [Orphanet:3243]
synonym: "Afnd" RELATED [OMIM:608068]
synonym: "Gomm button disease" RELATED [GARD:0000521]
synonym: "Gomm-button disease" RELATED [OMIM:608068]
synonym: "neutrophilic dermatosis, acute febrile" RELATED [OMIM:608068]
synonym: "sweet syndrome" EXACT [OMIM:608068]
xref: DOID:0080746 {source="MONDO:equivalentTo"}
xref: GARD:521 {source="MONDO:GARD"}
xref: ICD10CM:L98.2 {source="Orphanet:3243", source="Orphanet:3243/e"}
xref: icd11.foundation:195212152 {source="Orphanet:3243", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:702.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10000748 {source="Orphanet:3243", source="Orphanet:3243/e"}
xref: MEDGEN:43097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016463 {source="Orphanet:3243", source="MONDO:equivalentTo", source="Orphanet:3243/e"}
xref: NCIT:C85177 {source="MONDO:equivalentTo"}
xref: NORD:1749 {source="MONDO:NORD"}
xref: OMIM:608068 {source="Orphanet:3243", source="MONDO:equivalentTo", source="Orphanet:3243/e"}
xref: Orphanet:3243 {source="MONDO:equivalentTo", source="OMIM:608068"}
xref: SCTID:84625002 {source="MONDO:equivalentTo"}
xref: UMLS:C0085077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43097"}
is_a: MONDO:0002254 {source="NCIT:C85177"} ! syndromic disease
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
is_a: MONDO:0005554 {source="Orphanet:3243"} ! rheumatic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare

[Term]
id: MONDO:0011960
name: schizophrenia 11
def: "A schizophrenia that has material basis in a mutation on chromosome 10q22.3." [DOID:0070087]
synonym: "schizophrenia 11" EXACT [OMIM:608078]
synonym: "schizophrenia susceptibility locus, chromosome 10Q-related" RELATED [OMIM:608078]
synonym: "schizophrenia type 11" EXACT [MONDORULE:2, OMIM:608078]
synonym: "SCZD11" EXACT ABBREVIATION [DOID:0070087]
synonym: "Sczd11" RELATED [OMIM:608078]
xref: DOID:0070087 {source="MONDO:equivalentTo"}
xref: MEDGEN:334205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608078 {source="DOID:0070087", source="MONDO:equivalentTo"}
xref: UMLS:C1842605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334205"}
is_a: MONDO:0005090 {source="DC-OMIM:608078", source="DOID:0070087"} ! schizophrenia

[Term]
id: MONDO:0011961
name: hereditary sensory and autonomic neuropathy type 1B
def: "Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." [Orphanet:139564]
subset: gard_rare {source="GARD:16958", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139564"}
subset: orphanet_rare {source="Orphanet:139564"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" EXACT [Orphanet:139564]
synonym: "hereditary sensory and autonomic neuropathy type IB" EXACT [Orphanet:139564]
synonym: "hereditary sensory neuropathy type 1B" RELATED [DOID:0070148]
synonym: "hereditary sensory neuropathy type IB" EXACT [DOID:0070148]
synonym: "HSAN with cough and gastroesophageal reflux" EXACT [DOID:0070148, Orphanet:139564]
synonym: "HSAN1B" EXACT ABBREVIATION [Orphanet:139564]
synonym: "neuropathy, hereditary sensory and autonomic, type 1B" RELATED [OMIM:608088]
synonym: "neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux" RELATED [OMIM:608088]
synonym: "neuropathy, hereditary sensory, type 1B" RELATED [OMIM:608088]
synonym: "neuropathy, hereditary sensory, type IB" EXACT [OMIM:608088, OMIM:genemap2]
xref: DOID:0070148 {source="MONDO:equivalentTo"}
xref: GARD:16958 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:139564/attributed", source="Orphanet:139564/ntbt", source="Orphanet:139564"}
xref: MEDGEN:330880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564296 {source="MONDO:equivalentTo"}
xref: OMIM:608088 {source="Orphanet:139564/e", source="DOID:0070148", source="MONDO:equivalentTo", source="Orphanet:139564"}
xref: Orphanet:139564 {source="DOID:0070148", source="MONDO:equivalentTo", source="OMIM:608088"}
xref: PMID:12870133 {source="DOID:0070148"}
xref: PMID:16311270 {source="DOID:0070148"}
xref: SCTID:717825008 {source="MONDO:equivalentTo"}
xref: UMLS:C1842586 {source="MEDGEN:330880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="DOID:0070148", source="MESH:C564296", source="OMIM:608088", source="Orphanet:139564/inferred"} ! hereditary sensory and autonomic neuropathy
is_a: MONDO:0018213 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary sensory and autonomic neuropathy type 1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011962
name: endometrial cancer
def: "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." [NCIT:C27815]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of endometrium" EXACT [MONDO:patterns/cancer]
synonym: "endometrial Ca" EXACT [DOID:1380]
synonym: "endometrial cancer" EXACT [OMIM:608089]
synonym: "endometrial cancer, familial, autosomal dominant, somatic mutation" EXACT [OMIM:608089, OMIM:genemap2]
synonym: "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:608089, OMIM:genemap2]
synonym: "endometrial carcinoma, somatic" EXACT [OMIM:608089, OMIM:genemap2]
synonym: "endometrial neoplasm" BROAD [DOID:1380]
synonym: "endometrium cancer" EXACT [MONDO:patterns/location]
synonym: "malignant endometrial neoplasm" EXACT [DOID:1380, NCIT:C27815]
synonym: "malignant endometrium neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of endometrium" EXACT [DOID:1380, MONDO:patterns/cancer]
synonym: "neoplasm of endometrium" BROAD [DOID:1380]
synonym: "primary malignant neoplasm of endometrium" EXACT [DOID:1380]
synonym: "tumor of endometrium" BROAD [DOID:1380, NCIT:C3012]
synonym: "tumour of endometrium" BROAD OMO:0003005 []
xref: DOID:1380 {source="MONDO:equivalentTo"}
xref: ICD10CM:C54.1 {source="DOID:1380"}
xref: MEDGEN:2840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016889 {source="DOID:1380"}
xref: NCIT:C27815 {source="MONDO:equivalentTo", source="DOID:1380"}
xref: NCIT:C3012 {source="DOID:1380"}
xref: OMIM:608089 {source="MONDO:equivalentTo", source="DOID:1380"}
xref: SCTID:123844007 {source="DOID:1380"}
xref: UMLS:C0007103 {source="MEDGEN:2840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002715 {source="DOID:1380", source="MONDO:Redundant", source="NCIT:C27815/inferred"} ! uterine cancer
is_a: MONDO:0021251 {source="MONDO:Redundant", source="NCIT:C27815"} ! endometrium neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001295 ! endometrium
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011963
name: Joubert syndrome 2
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cerebellooculorenal syndrome 2" RELATED [OMIM:608091]
synonym: "cerebellooculorenal syndrome 2" EXACT [DOID:0110988]
synonym: "CORS2" EXACT ABBREVIATION [DOID:0110988]
synonym: "JBTS2" EXACT ABBREVIATION [DOID:0110988, MONDO:Lexical, OMIM:608091]
synonym: "Joubert syndrome 2" EXACT [MONDO:Lexical, OMIM:608091]
synonym: "Joubert syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 2" EXACT [DOID:0110988, MONDORULE:1, OMIM:608091]
synonym: "TMEM216 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110988 {source="MONDO:equivalentTo"}
xref: GARD:10167 {source="MONDO:GARD"}
xref: MEDGEN:334114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536294 {source="MONDO:equivalentTo"}
xref: OMIM:608091 {source="DOID:0110988", source="MONDO:equivalentTo"}
xref: Orphanet:2318 {source="OMIM:608091"}
xref: UMLS:C1842577 {source="MEDGEN:334114", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0018772 {source="DC-OMIM:608091", source="DOID:0110988", source="MONDO:Redundant", source="OMIM:608091"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25018 ! TMEM216
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25018 {source="MONDO:mim2gene_medgen"} ! TMEM216
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2" xsd:anyURI {source="GARD:0010167"}

[Term]
id: MONDO:0011964
name: DPAGT1-congenital disorder of glycosylation
def: "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." [Orphanet:86309]
subset: gard_rare {source="GARD:9837", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86309"}
subset: orphanet_rare {source="Orphanet:86309"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type Ij" EXACT [Orphanet:86309]
synonym: "CDG 1J" RELATED [GARD:0009837]
synonym: "CDG Ij" RELATED [OMIM:608093]
synonym: "CDG syndrome type Ij" EXACT [Orphanet:86309]
synonym: "CDG-Ij" EXACT [Orphanet:86309]
synonym: "CDG1J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608093, Orphanet:86309]
synonym: "CDGIj" EXACT [NCIT:C126874]
synonym: "congenital disorder of glycosylation type 1j" EXACT [Orphanet:86309]
synonym: "congenital disorder of glycosylation type Ij" EXACT [Orphanet:86309]
synonym: "congenital disorder of glycosylation, type Ij" RELATED [MONDO:Lexical, OMIM:608093]
synonym: "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency" EXACT [Orphanet:86309]
synonym: "DPAGT1-CDG" EXACT ABBREVIATION [Orphanet:86309]
synonym: "DPAGT1-CDG (CDG-Ij)" RELATED [GARD:0009837]
synonym: "DPAGT1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0080562 {source="MONDO:equivalentTo"}
xref: GARD:9837 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:86309/attributed", source="Orphanet:86309/ntbt", source="Orphanet:86309"}
xref: MEDGEN:419694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535748 {source="MONDO:equivalentTo"}
xref: NCIT:C126874 {source="MONDO:equivalentTo"}
xref: OMIM:608093 {source="Orphanet:86309/e", source="MONDO:equivalentTo", source="Orphanet:86309"}
xref: Orphanet:86309 {source="OMIM:608093", source="MONDO:equivalentTo"}
xref: SCTID:725079003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419694"}
is_a: MONDO:0005500 {source="DC-OMIM:608093"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535748", source="MONDO:0011964/inferred", source="MONDO:Redundant", source="NCIT:C126874", source="OMIM:608093", source="Orphanet:86309/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:86309"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2995 {source="MONDO:mim2gene_medgen"} ! DPAGT1

[Term]
id: MONDO:0011965
name: familial temporal lobe epilepsy 2
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3." [DOID:0060755, PMID:12011300, PMID:15342703]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, familial temporal lobe" RELATED [GARD:0005135]
synonym: "epilepsy, familial temporal lobe, 2" RELATED [MONDO:Lexical, OMIM:608096]
synonym: "ETL2" EXACT ABBREVIATION [DOID:0060755, MONDO:Lexical, OMIM:608096]
synonym: "familial temporal lobe epilepsy" RELATED [Orphanet:98819]
synonym: "familial temporal lobe epilepsy type 2" EXACT [DOID:0060755, MONDORULE:1]
synonym: "Ftle" RELATED [OMIM:608096]
synonym: "temporal epilepsy, familial" RELATED [GARD:0005135]
xref: DOID:0060755 {source="MONDO:equivalentTo"}
xref: ICD10CM:G40.2 {source="Orphanet:98819/attributed", source="Orphanet:98819/ntbt", source="Orphanet:98819"}
xref: MEDGEN:1683026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536956 {source="Orphanet:98819/e", source="MONDO:equivalentTo", source="Orphanet:98819"}
xref: OMIM:608096 {source="Orphanet:98819/e", source="MONDO:equivalentTo", source="DOID:0060755", source="Orphanet:98819"}
xref: UMLS:C4759869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683026"}
is_a: MONDO:0005115 {source="DC-OMIM:608096", source="DOID:0060755", source="MESH:C536956", source="OMIM:608096"} ! temporal lobe epilepsy
is_a: MONDO:0017704 {source="Orphanet:98819"} ! familial partial epilepsy

[Term]
id: MONDO:0011966
name: periventricular heterotopia with microcephaly, autosomal recessive
subset: gard_rare {source="GARD:15424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARPHM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608097]
synonym: "heterotopia, periventricular, autosomal recessive" RELATED [OMIM:608097]
synonym: "periventricular heterotopia with microcephaly, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608097]
synonym: "periventricular nodular heterotopia 2" RELATED [OMIM:608097]
xref: GARD:15424 {source="MONDO:GARD"}
xref: MEDGEN:334110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564292 {source="MONDO:equivalentTo"}
xref: OMIM:608097 {source="MONDO:equivalentTo"}
xref: Orphanet:2149 {source="OMIM:608097"}
xref: Orphanet:98892 {source="OMIM:608097"}
xref: UMLS:C1842563 {source="MEDGEN:334110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020341 {source="DC-OMIM:608097", source="MESH:C564292"} ! periventricular nodular heterotopia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15853 {source="MONDO:mim2gene_medgen"} ! ARFGEF2

[Term]
id: MONDO:0011967
name: heterotopia, periventricular, associated with chromosome 5P anomalies
subset: gard_rare {source="GARD:15425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "heterotopia, periventricular, associated with chromosome 5P anomalies" EXACT [OMIM:608098]
synonym: "periventricular nodular heterotopia 3" RELATED [OMIM:608098]
xref: GARD:15425 {source="MONDO:GARD"}
xref: MEDGEN:374963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564291 {source="MONDO:equivalentTo"}
xref: OMIM:608098 {source="MONDO:equivalentTo"}
xref: Orphanet:2149 {source="OMIM:608098"}
xref: Orphanet:98892 {source="OMIM:608098"}
xref: UMLS:C1842562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374963"}
is_a: MONDO:0020341 {source="DC-OMIM:608098", source="MESH:C564291"} ! periventricular nodular heterotopia

[Term]
id: MONDO:0011968
name: autosomal recessive limb-girdle muscular dystrophy type 2D
def: "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." [Orphanet:62]
subset: gard_rare {source="GARD:438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:62"}
subset: orphanet_rare {source="Orphanet:62"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adhalinopathy, primary" RELATED [OMIM:608099]
synonym: "Alpha-sarcoglycanopathy" EXACT [DOID:0110278, Orphanet:62]
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA" EXACT [MONDO:design_pattern]
synonym: "DMDA2" EXACT ABBREVIATION [DOID:0110278]
synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT [DOID:0110278]
synonym: "Duchenne-like autosomal recessive muscular dystrophy, type 2" RELATED [OMIM:608099]
synonym: "LGMD2D" EXACT ABBREVIATION [DOID:0110278, MONDO:Lexical, OMIM:608099, Orphanet:62]
synonym: "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency" EXACT [Orphanet:62]
synonym: "limb-girdle muscular dystrophy type 2D" EXACT [NCIT:C142081]
synonym: "limb-girdle muscular dystrophy, type 2D" RELATED [GARD:0000438]
synonym: "muscular dystrophy limb-girdle with alpha-sarcoglycan" RELATED [GARD:0000438]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 3" EXACT [OMIM:608099, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2D" EXACT [DOID:0110278, MONDO:Lexical, OMIM:608099]
synonym: "primary adhalinopathy" EXACT [DOID:0110278]
synonym: "SGCA autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110278 {source="MONDO:equivalentTo"}
xref: GARD:438 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:62/ntbt", source="Orphanet:62/inclusion", source="DOID:0110278", source="Orphanet:62"}
xref: MEDGEN:424706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C142081 {source="MONDO:equivalentTo"}
xref: OMIM:608099 {source="Orphanet:62/e", source="MONDO:equivalentTo", source="DOID:0110278", source="Orphanet:62"}
xref: Orphanet:62 {source="MONDO:equivalentTo", source="OMIM:608099", source="DOID:0110278"}
xref: SCTID:715340002 {source="MONDO:equivalentTo"}
xref: UMLS:C2936332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424706"}
is_a: MONDO:0015152 {source="DOID:0110278", source="MONDO:Redundant", source="OMIM:608099", source="Orphanet:62"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016141 {source="Orphanet:207060"} ! qualitative or quantitative defects of alpha-sarcoglycan
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0016971 {source="DOID:0110278/inferred", source="MONDO:Redundant", source="NCIT:C142081", source="Orphanet:62/inferred"} ! limb-girdle muscular dystrophy
is_a: MONDO:0019056 ! neuromuscular disease
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10805 ! SGCA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10805 {source="MONDO:mim2gene_medgen"} ! SGCA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011969
name: ALG8-congenital disorder of glycosylation
def: "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." [Orphanet:79325]
subset: gard_rare {source="GARD:9834", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79325"}
subset: orphanet_rare {source="Orphanet:79325"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG8-CDG" EXACT ABBREVIATION [Orphanet:79325]
synonym: "ALG8-CDG (CDG-Ih)" RELATED [GARD:0009834]
synonym: "ALG8-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "carbohydrate deficient glycoprotein syndrome type Ih" EXACT [Orphanet:79325]
synonym: "CDG 1H" RELATED [GARD:0009834]
synonym: "CDG Ih" RELATED [OMIM:608104]
synonym: "CDG syndrome type Ih" EXACT [Orphanet:79325]
synonym: "CDG-Ih" EXACT [Orphanet:79325]
synonym: "CDG1H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608104, Orphanet:79325]
synonym: "congenital disorder of glycosylation type 1h" EXACT [Orphanet:79325]
synonym: "congenital disorder of glycosylation type Ih" EXACT [Orphanet:79325]
synonym: "congenital disorder of glycosylation, type Ih" RELATED [MONDO:Lexical, OMIM:608104]
synonym: "glucosyltransferase 2 deficiency" EXACT [Orphanet:79325]
xref: DOID:0080560 {source="MONDO:equivalentTo"}
xref: GARD:9834 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79325", source="Orphanet:79325/attributed", source="Orphanet:79325/ntbt"}
xref: MEDGEN:419692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535746 {source="MONDO:equivalentTo"}
xref: OMIM:608104 {source="Orphanet:79325", source="MONDO:equivalentTo", source="Orphanet:79325/e"}
xref: Orphanet:79325 {source="MONDO:equivalentTo", source="OMIM:608104"}
xref: SCTID:720977000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419692"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:608104"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535746", source="MONDO:0011969/inferred", source="MONDO:Redundant", source="OMIM:608104", source="Orphanet:79325/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79325"} ! disorder of protein N-glycosylation
relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23161 {source="MONDO:mim2gene_medgen"} ! ALG8

[Term]
id: MONDO:0011970
name: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
subset: gard_rare {source="GARD:17003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163727"}
subset: orphanet_rare {source="Orphanet:163727"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp" EXACT [OMIM:608105, OMIM:genemap2]
synonym: "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp" RELATED [MONDO:Lexical, OMIM:608105]
synonym: "EPRPDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608105]
synonym: "Re-ped-Wc" RELATED [OMIM:608105]
xref: DOID:0111645 {source="MONDO:equivalentTo"}
xref: GARD:17003 {source="MONDO:GARD"}
xref: MEDGEN:334104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535499 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"}
xref: OMIM:608105 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"}
xref: Orphanet:163727 {source="MONDO:equivalentTo", source="OMIM:608105"}
xref: UMLS:C1842531 {source="MONDO:equivalentTo", source="MEDGEN:334104", source="MONDO:MEDGEN"}
is_a: MONDO:0020072 {source="Orphanet:163727"} ! childhood-onset epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011971
name: hyper-IgM syndrome type 5
def: "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10581", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101092"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HIGM5" EXACT ABBREVIATION [DOID:0060759, MONDO:Lexical, OMIM:608106, Orphanet:101092]
synonym: "hyper IgM syndrome 5" RELATED [GARD:0010581]
synonym: "hyper-IgM syndrome 5" EXACT [DOID:0060759, OMIM:608106]
synonym: "hyper-IgM syndrome caused by mutation in UNG" EXACT [MONDO:design_pattern]
synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT [DOID:0060759, Orphanet:101092]
synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT [DOID:0060759, Orphanet:101092]
synonym: "hyper-IgM syndrome type 5" EXACT CLINGEN_LABEL []
synonym: "immunodeficiency with hyper IgM type 5" RELATED [DOID:0060759]
synonym: "immunodeficiency with hyper IgM, type 5" EXACT [OMIM:608106, OMIM:genemap2]
synonym: "immunodeficiency with hyper-IgM, type 5" RELATED [MONDO:Lexical, OMIM:608106]
synonym: "UNG hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060759 {source="MONDO:equivalentTo"}
xref: GARD:10581 {source="MONDO:GARD"}
xref: ICD10CM:D80.5 {source="Orphanet:101092", source="DOID:0060759", source="Orphanet:101092/attributed", source="Orphanet:101092/ntbt"}
xref: MEDGEN:328420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608106 {source="MONDO:equivalentTo", source="Orphanet:101092", source="DOID:0060759", source="Orphanet:101092/e"}
xref: Orphanet:101092 {source="OMIM:608106", source="MONDO:equivalentTo", source="DOID:0060759"}
xref: Orphanet:183666 {source="OMIM:608106", source="DOID:0060759"}
xref: UMLS:C1720958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328420"}
is_a: MONDO:0003947 {source="MONDO:Redundant", source="OMIM:608106"} ! hyper-IgM syndrome
intersection_of: MONDO:0003947 ! hyper-IgM syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12572 ! UNG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12572 {source="MONDO:mim2gene_medgen"} ! UNG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5" xsd:anyURI {source="GARD:0010581"}

[Term]
id: MONDO:0011972
name: ovarian hyperstimulation syndrome
def: "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." [MESH:D016471]
subset: gard_rare {source="GARD:16668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64739"}
subset: orphanet_rare {source="Orphanet:64739"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OHSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608115, Orphanet:64739]
synonym: "ovarian hyperstimulation syndrome" EXACT [MONDO:Lexical, OMIM:608115]
synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" RELATED [OMIM:608115]
synonym: "secondary Meig's syndrome" EXACT [DOID:5425]
xref: DOID:5425 {source="MONDO:equivalentTo"}
xref: GARD:16668 {source="MONDO:GARD"}
xref: ICD10CM:N98.1 {source="Orphanet:64739/e", source="Orphanet:64739/specific", source="Orphanet:64739"}
xref: icd11.foundation:1216664013 {source="MONDO:equivalentTo", source="Orphanet:64739"}
xref: ICD9:256.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10033266 {source="Orphanet:64739/e", source="Orphanet:64739"}
xref: MEDGEN:38966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016471 {source="Orphanet:64739/e", source="DOID:5425", source="MONDO:equivalentTo", source="Orphanet:64739"}
xref: OMIM:608115 {source="Orphanet:64739/e", source="DOID:5425", source="MONDO:equivalentTo", source="Orphanet:64739"}
xref: Orphanet:64739 {source="MONDO:equivalentTo", source="OMIM:608115"}
xref: SCTID:129635004 {source="DOID:5425", source="MONDO:equivalentTo"}
xref: UMLS:C0085083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38966"}
is_a: MONDO:0002263 {source="MONDO:0015875-obsoleted", source="MONDO:Entailed", source="Orphanet:64739"} ! female reproductive system disorder
is_a: MONDO:0005558 {source="DOID:5425", source="MESH:D016471"} ! ovarian disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015980"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3969 {source="MONDO:mim2gene_medgen"} ! FSHR

[Term]
id: MONDO:0011973
name: zinc deficiency, transient neonatal
subset: otar {source="MONDO:OTAR"}
synonym: "TNZD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608118]
synonym: "zinc deficiency, neonatal, due to Low breast milk zinc" RELATED [OMIM:608118]
synonym: "zinc deficiency, transient neonatal" EXACT [MONDO:Lexical, OMIM:608118]
synonym: "zinc in breast milk, reduced" RELATED [OMIM:608118]
xref: MEDGEN:330858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564286 {source="MONDO:equivalentTo"}
xref: OMIM:608118 {source="MONDO:equivalentTo"}
xref: UMLS:C1842486 {source="MEDGEN:330858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11013 {source="MONDO:mim2gene_medgen"} ! SLC30A2

[Term]
id: MONDO:0011974
name: retinitis pigmentosa 7
def: "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." [DOID:0110383, PMID:1749427]
subset: gard_rare {source="GARD:10386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Leber congenital amaurosis 18" RELATED [OMIM:608133]
synonym: "leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant" EXACT [OMIM:608133, OMIM:genemap2]
synonym: "retinitis pigmentosa 7" EXACT [MONDO:Lexical, OMIM:608133]
synonym: "retinitis pigmentosa 7 and digenic form, autosomal recessive, autosomal dominant, digenic dominant" EXACT [OMIM:608133, OMIM:genemap2]
synonym: "retinitis pigmentosa 7, digenic" RELATED [OMIM:608133]
synonym: "retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant" EXACT [OMIM:608133, OMIM:genemap2]
synonym: "retinitis pigmentosa type 7" EXACT [DOID:0110383, MONDORULE:1, OMIM:608133]
synonym: "RP 7" RELATED [GARD:0010386]
synonym: "RP7" EXACT ABBREVIATION [DOID:0110383, MONDO:Lexical, OMIM:608133]
xref: DOID:0110383 {source="MONDO:equivalentTo"}
xref: GARD:10386 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110383"}
xref: MEDGEN:334168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608133 {source="MONDO:equivalentTo", source="DOID:0110383"}
xref: Orphanet:791 {source="OMIM:608133"}
xref: UMLS:C1842475 {source="MEDGEN:334168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:608133", source="DOID:0110383", source="MONDO:Redundant", source="OMIM:608133"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10254 ! ROM1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 ! PRPH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10386/retinitis-pigmentosa-7" xsd:anyURI {source="GARD:0010386"}

[Term]
id: MONDO:0011975
name: paternal uniparental disomy of chromosome 14
subset: gard_rare {source="GARD:5409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:96334"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:96334"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KAGAMI-Ogata syndrome" RELATED [OMIM:608149]
synonym: "paternal uniparental disomy 14" RELATED [GARD:0005409]
synonym: "paternal uniparental disomy of chromosome 14" EXACT CLINGEN_LABEL []
synonym: "paternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96334]
synonym: "uniparental disomy, paternal, chromosome 14" RELATED [OMIM:608149]
synonym: "UPD(14)pat" EXACT [Orphanet:96334]
xref: GARD:5409 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96334", source="Orphanet:96334/attributed", source="Orphanet:96334/ntbt"}
xref: MEDGEN:1843450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536471 {source="Orphanet:96334", source="MONDO:equivalentTo", source="Orphanet:96334/e"}
xref: NANDO:1200685 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:608149 {source="MONDO:equivalentTo"}
xref: Orphanet:254519 {source="OMIM:608149"}
xref: Orphanet:263049 {source="GARD:0005409"}
xref: Orphanet:96334 {source="MONDO:equivalentTo"}
xref: UMLS:C5680251 {source="MEDGEN:1843450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016779 {source="Orphanet:96334"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr14 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 14 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5409/uniparental-disomy-paternal-chromosome-14" xsd:anyURI {source="GARD:0005409"}

[Term]
id: MONDO:0011976
name: lipodystrophy-intellectual disability-deafness syndrome
def: "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." [Orphanet:50811]
subset: gard_rare {source="GARD:16646", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:50811"}
subset: orphanet_rare {source="Orphanet:50811"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones" RELATED [OMIM:608154]
synonym: "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" RELATED DEPRECATED [OMIM:608154]
synonym: "Rajab-Spranger syndrome" EXACT [Orphanet:50811]
xref: GARD:16646 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:50811", source="Orphanet:50811/attributed", source="Orphanet:50811/ntbt"}
xref: MEDGEN:334166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564283 {source="MONDO:equivalentTo"}
xref: OMIM:608154 {source="MONDO:equivalentTo", source="Orphanet:50811", source="Orphanet:50811/e"}
xref: Orphanet:50811 {source="MONDO:equivalentTo", source="OMIM:608154"}
xref: SCTID:721973006 {source="MONDO:equivalentTo"}
xref: UMLS:C1842465 {source="MEDGEN:334166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020087 {source="Orphanet:50811"} ! hereditary lipodystrophy
relationship: disease_has_feature HP:0004348 {source="Orphanet:50811"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:50811", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:50811", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI

[Term]
id: MONDO:0011977
name: 8q22.1 microdeletion syndrome
def: "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." [Orphanet:178303]
subset: gard_rare {source="GARD:4722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178303"}
subset: ordo_malformation_syndrome {source="Orphanet:178303"}
subset: orphanet_rare {source="Orphanet:178303"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 8Q22.1 deletion syndrome" RELATED [OMIM:608156]
synonym: "monosomy 8q22.1" EXACT [Orphanet:178303]
synonym: "NABLUS mask-like facial syndrome" RELATED [MONDO:Lexical, OMIM:608156]
synonym: "Nablus mask-like facial syndrome" EXACT [Orphanet:178303]
synonym: "NMLFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608156]
xref: GARD:4722 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:178303", source="Orphanet:178303/attributed", source="Orphanet:178303/ntbt"}
xref: MEDGEN:334165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536110 {source="MONDO:equivalentTo"}
xref: OMIM:608156 {source="MONDO:equivalentTo", source="Orphanet:178303", source="Orphanet:178303/e"}
xref: Orphanet:178303 {source="MONDO:equivalentTo", source="OMIM:608156"}
xref: SCTID:719664004 {source="MONDO:equivalentTo"}
xref: UMLS:C1842464 {source="MEDGEN:334165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:178303"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016907 {source="Orphanet:178303"} ! partial deletion of the long arm of chromosome 8
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:178303", source="Orphanet:178303/inferred"} ! disorder of development or morphogenesis
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8q22.1 ! 8q22.1 (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0011978
name: CoQ-responsive OXPHOS deficiency
subset: n_of_one
synonym: "CoQ-responsive oxidative phosphorylation disorder" EXACT []
synonym: "CoQ-responsive OXPHOS deficiency" EXACT [OMIM:608158]
xref: MEDGEN:334164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535470 {source="MONDO:equivalentTo"}
xref: OMIM:608158 {source="MONDO:equivalentTo"}
xref: UMLS:C1842463 {source="MEDGEN:334164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C535470/inferred"} ! hereditary disease
relationship: disease_shares_features_of MONDO:0009723 {source="PMID:12948744"} ! Leigh syndrome
relationship: has_characteristic HP:0000007 {source="PMID:12948744"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0011979
name: adult-onset foveomacular vitelliform dystrophy
def: "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." [Orphanet:99000]
subset: gard_rare {source="GARD:10909", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99000"}
subset: orphanet_rare {source="Orphanet:99000"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset foveomacular dystrophy" EXACT [Orphanet:99000]
synonym: "adult-onset foveomacular dystrophy with choroidal neovascularization" EXACT [Orphanet:99000]
synonym: "adult-onset vitelliform macular dystrophy" EXACT [Orphanet:99000]
synonym: "AOFMD" EXACT ABBREVIATION [Orphanet:99000]
synonym: "AVMD" EXACT ABBREVIATION [Orphanet:99000]
synonym: "foveomacular dystrophy, adult-onset, with choroidal neovascularization" RELATED [GARD:0010909]
synonym: "foveomacular dystrophy, adult-onset; AOFMD" RELATED [GARD:0010909]
synonym: "Gass disease" EXACT [Orphanet:99000]
synonym: "macular dystrophy, vitelliform, 3" RELATED [MONDO:Lexical, OMIM:608161]
synonym: "macular dystrophy, vitelliform, adult-onset" RELATED [GARD:0010909]
synonym: "macular dystrophy, vitelliform, type 3" EXACT [MONDORULE:1, OMIM:608161]
synonym: "pseudo-Best disease" EXACT [Orphanet:99000]
synonym: "pseudo-vitelliform macular dystrophy" EXACT [Orphanet:99000]
synonym: "VMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608161]
xref: GARD:10909 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99000/attributed", source="Orphanet:99000/ntbt", source="Orphanet:99000"}
xref: MEDGEN:334280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99000 {source="OMIM:608161", source="MONDO:equivalentTo"}
xref: SCTID:232049001 {source="MONDO:equivalentTo"}
xref: UMLS:C1842914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334280"}
is_a: MONDO:0000390 {source="DC-OMIM:608161", source="OMIM:608161"} ! vitelliform macular dystrophy
is_a: MONDO:0020242 {source="MONDO:Redundant", source="Orphanet:99000"} ! hereditary macular dystrophy

[Term]
id: MONDO:0011980
name: autoimmune thyroid disease, susceptibility to, 1
subset: predisposition
synonym: "AITD1" RELATED ABBREVIATION [OMIM:608173]
synonym: "autoimmune thyroid disease, susceptibility to, 1" EXACT [OMIM:608173]
synonym: "autoimmune thyroid disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608173]
xref: MEDGEN:334160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608173 {source="MONDO:equivalentTo"}
xref: UMLS:C1842446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334160"}
is_a: MONDO:0000162 {source="DC-OMIM:608173"} ! autoimmune thyroid disease, susceptibility to

[Term]
id: MONDO:0011981
name: autoimmune thyroid disease, susceptibility to, 2
subset: predisposition
synonym: "AITD2" RELATED ABBREVIATION [OMIM:608174]
synonym: "autoimmune thyroid disease, susceptibility to, 2" EXACT [OMIM:608174]
synonym: "autoimmune thyroid disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608174]
xref: MEDGEN:334159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608174 {source="MONDO:equivalentTo"}
xref: UMLS:C1842445 {source="MONDO:equivalentTo", source="MEDGEN:334159", source="MONDO:MEDGEN"}
is_a: MONDO:0000162 {source="DC-OMIM:608174"} ! autoimmune thyroid disease, susceptibility to

[Term]
id: MONDO:0011982
name: autoimmune thyroid disease, susceptibility to, 3
comment: Editor note: TODO check causative gene; check ORDO synonyms
subset: predisposition
synonym: "AITD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608175]
synonym: "autoimmune thyroid disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608175]
synonym: "autoimmune thyroid disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608175]
synonym: "TGN" RELATED EXCLUDE [Orphanet:168347]
synonym: "thyroglobulin" RELATED EXCLUDE [Orphanet:168347]
xref: MEDGEN:374932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608175 {source="MONDO:equivalentTo"}
xref: UMLS:C1842444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374932"}
is_a: MONDO:0000162 {source="DC-OMIM:608175"} ! autoimmune thyroid disease, susceptibility to

[Term]
id: MONDO:0011983
name: autoimmune thyroid disease, susceptibility to, 4
subset: predisposition
synonym: "AITD4" RELATED ABBREVIATION [OMIM:608176]
synonym: "autoimmune thyroid disease, susceptibility to, 4" EXACT [OMIM:608176]
synonym: "autoimmune thyroid disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608176]
xref: MEDGEN:334080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608176 {source="MONDO:equivalentTo"}
xref: UMLS:C1842443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334080"}
is_a: MONDO:0000162 {source="DC-OMIM:608176"} ! autoimmune thyroid disease, susceptibility to

[Term]
id: MONDO:0011984
name: synpolydactyly type 2
def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295197"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FBLN1 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic synpolydactyly caused by mutation in FBLN1" EXACT [MONDO:design_pattern]
synonym: "SD2, Debeer type" EXACT [Orphanet:295197]
synonym: "SD2b" EXACT [Orphanet:295197]
synonym: "SPD, Debeer type" EXACT [Orphanet:295197]
synonym: "SPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608180, Orphanet:295197]
synonym: "synpolydactyly 2" RELATED [MONDO:Lexical, OMIM:608180]
synonym: "synpolydactyly type 2" EXACT [MONDORULE:1, OMIM:608180]
synonym: "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" EXACT [OMIM:608180, OMIM:genemap2]
synonym: "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" RELATED [OMIM:608180]
synonym: "synpolydactyly, Debeer type" EXACT [Orphanet:295197]
xref: GARD:17359 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"}
xref: ICD10CM:Q70.2 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"}
xref: MEDGEN:331290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564278 {source="MONDO:equivalentTo"}
xref: OMIM:608180 {source="Orphanet:295197", source="MONDO:equivalentTo", source="Orphanet:295197/e"}
xref: Orphanet:295197 {source="OMIM:608180", source="MONDO:equivalentTo"}
xref: Orphanet:93403 {source="OMIM:608180"}
xref: UMLS:C1842422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331290"}
is_a: MONDO:0000722 {source="DC-OMIM:608180", source="MONDO:Redundant"} ! non-syndromic synpolydactyly
is_a: MONDO:0021651 {source="Orphanet:295197"} ! synpolydactyly
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0000722 ! non-syndromic synpolydactyly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3600 ! FBLN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3600 {source="MONDO:mim2gene_medgen"} ! FBLN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0011985
name: hyper-IgM syndrome type 4
def: "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation." [Wikipedia:Hyper-IgM_syndrome_type_4]
subset: gard_rare {source="GARD:10580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101091"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HIGM4" EXACT ABBREVIATION [DOID:0060760, MONDO:Lexical, OMIM:608184, Orphanet:101091]
synonym: "hyper IgM syndrome 4" RELATED [GARD:0010580]
synonym: "hyper-IgM syndrome 4" RELATED [OMIM:608184]
synonym: "hyper-IgM syndrome type 4" EXACT [DOID:0060760]
synonym: "immunodeficiency with hyper IgM type 4" RELATED [GARD:0010580]
synonym: "immunodeficiency with hyper-IgM type 4" RELATED [DOID:0060760]
synonym: "immunodeficiency with hyper-IgM, type 4" RELATED [MONDO:Lexical, OMIM:608184]
xref: DOID:0060760 {source="MONDO:equivalentTo"}
xref: GARD:10580 {source="MONDO:GARD"}
xref: ICD10CM:D80.5 {source="DOID:0060760", source="Orphanet:101091", source="Orphanet:101091/attributed", source="Orphanet:101091/ntbt"}
xref: MEDGEN:330847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564277 {source="MONDO:equivalentTo"}
xref: OMIM:608184 {source="DOID:0060760", source="MONDO:equivalentTo", source="Orphanet:101091", source="Orphanet:101091/e"}
xref: Orphanet:101091 {source="DOID:0060760", source="MONDO:equivalentTo", source="OMIM:608184"}
xref: Orphanet:183666 {source="DOID:0060760", source="OMIM:608184"}
xref: UMLS:C1842413 {source="MEDGEN:330847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003947 {source="MESH:C564277", source="MONDO:Redundant", source="OMIM:608184"} ! hyper-IgM syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4" xsd:anyURI {source="GARD:0010580"}

[Term]
id: MONDO:0011986
name: tropical pancreatitis
def: "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis." [Orphanet:103918]
subset: gard_rare {source="GARD:16946", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:103918"}
subset: orphanet_rare {source="Orphanet:103918"}
subset: rare
synonym: "fibrocalculous pancreatic diabetes, susceptibility to" RELATED [OMIM:608189, OMIM:genemap2]
synonym: "TCP" EXACT ABBREVIATION [OMIM:608189, Orphanet:103918]
synonym: "tropical calcific chronic pancreatitis" EXACT [Orphanet:103918]
synonym: "tropical calcific pancreatitis" RELATED [OMIM:608189]
xref: GARD:16946 {source="MONDO:GARD"}
xref: ICD10CM:K86.1 {source="Orphanet:103918/ntbt", source="Orphanet:103918"}
xref: icd11.foundation:1645607956 {source="MONDO:equivalentTo", source="Orphanet:103918"}
xref: MEDGEN:334069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564276 {source="MONDO:equivalentTo"}
xref: OMIM:608189 {source="Orphanet:103918/e", source="MONDO:equivalentTo", source="Orphanet:103918"}
xref: Orphanet:103918 {source="MONDO:equivalentTo", source="OMIM:608189"}
xref: SCTID:724540009 {source="MONDO:equivalentTo"}
xref: UMLS:C1842402 {source="MEDGEN:334069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:103918"} ! pancreas disorder
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005003 {source="MESH:C564276", source="MONDO:Redundant"} ! chronic pancreatitis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11244 {source="MONDO:mim2gene_medgen"} ! SPINK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011987
name: cone-rod dystrophy 13
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 13" EXACT [MONDO:Lexical, OMIM:608194]
synonym: "cone-rod dystrophy caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 13" EXACT [DOID:0111016, MONDORULE:2, OMIM:608194]
synonym: "CORD13" EXACT ABBREVIATION [DOID:0111016, MONDO:Lexical, OMIM:608194]
synonym: "RPGRIP1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111016 {source="MONDO:equivalentTo"}
xref: GARD:15426 {source="MONDO:GARD"}
xref: MEDGEN:413025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567698 {source="MONDO:equivalentTo"}
xref: OMIM:608194 {source="MONDO:equivalentTo", source="DOID:0111016"}
xref: UMLS:C2750720 {source="MEDGEN:413025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:608194", source="DOID:0111016", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 ! RPGRIP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 {source="MONDO:mim2gene_medgen"} ! RPGRIP1

[Term]
id: MONDO:0011988
name: neutrophil immunodeficiency syndrome
def: "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." [Orphanet:183707]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17087", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:183707"}
subset: orphanet_rare {source="Orphanet:183707"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis" EXACT [OMIM:608203, OMIM:genemap2]
synonym: "neutrophil immunodeficiency syndrome" EXACT [OMIM:608203]
xref: DOID:0112064 {source="MONDO:equivalentTo"}
xref: GARD:17087 {source="MONDO:GARD"}
xref: ICD10CM:D71 {source="Orphanet:183707/attributed", source="Orphanet:183707/ntbt", source="Orphanet:183707"}
xref: icd11.foundation:1459690929 {source="Orphanet:183707", source="MONDO:equivalentTo"}
xref: MEDGEN:374920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564275 {source="MONDO:equivalentTo"}
xref: OMIM:608203 {source="Orphanet:183707", source="MONDO:equivalentTo", source="Orphanet:183707/e"}
xref: Orphanet:183707 {source="MONDO:equivalentTo", source="OMIM:608203"}
xref: SCTID:723443003 {source="MONDO:equivalentTo"}
xref: UMLS:C1842398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374920"}
is_a: MONDO:0015978 {source="Orphanet:183707"} ! functional neutrophil defect
is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9802 {source="MONDO:mim2gene_medgen"} ! RAC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011989
name: leishmaniasis
def: "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration)." [Orphanet:507]
subset: gard_rare {source="GARD:6881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1895"}
subset: ordo_disorder {source="Orphanet:507"}
subset: orphanet_rare {source="Orphanet:507"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous leishmaniasis (subtype)" RELATED [GARD:0006881]
synonym: "post kala-Azar dermal leishmaniasis" RELATED [DOID:9065, NCIT:C34936]
synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED [DOID:9065]
synonym: "post-kala-azar dermal leishmaniasis" RELATED [DOID:9065]
synonym: "visceral leishmaniasis (subtype)" RELATED [GARD:0006881]
xref: DOID:9065 {source="MONDO:equivalentTo", source="EFO:0005044"}
xref: EFO:0005044 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6881 {source="MONDO:GARD"}
xref: ICD10CM:B55 {source="MONDO:equivalentTo", source="DOID:9065"}
xref: ICD10CM:B55.0 {source="Orphanet:507", source="Orphanet:507/btnt"}
xref: ICD10CM:B55.1 {source="Orphanet:507", source="Orphanet:507/btnt"}
xref: ICD10CM:B55.2 {source="Orphanet:507", source="Orphanet:507/btnt"}
xref: ICD10CM:B55.9 {source="DOID:9065", source="Orphanet:507", source="Orphanet:507/btnt"}
xref: ICD9:085 {source="DOID:9065", source="EFO:0005044"}
xref: ICD9:085.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9065"}
xref: MedDRA:10024198 {source="Orphanet:507", source="Orphanet:507/e"}
xref: MEDGEN:9714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007896 {source="MONDO:equivalentTo", source="DOID:9065", source="Orphanet:507", source="EFO:0005044", source="Orphanet:507/e"}
xref: NCIT:C34767 {source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"}
xref: NORD:1895 {source="MONDO:NORD"}
xref: Orphanet:507 {source="OMIM:608207", source="MONDO:equivalentTo"}
xref: SCTID:154377009 {source="DOID:9065"}
xref: SCTID:186811002 {source="DOID:9065"}
xref: SCTID:187511000 {source="DOID:9065"}
xref: SCTID:266206004 {source="DOID:9065"}
xref: SCTID:80612004 {source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"}
xref: UMLS:C0023281 {source="MONDO:equivalentTo", source="MEDGEN:9714", source="MONDO:MEDGEN"}
is_a: MONDO:0002428 {source="DOID:9065", source="MESH:D007896/inferred"} ! protozoa infectious disease
is_a: MONDO:0005135 {source="DOID:9065/inferred", source="EFO:0005044", source="MESH:D007896/inferred", source="MONDO:Redundant", source="NCIT:C34767", source="Orphanet:507"} ! parasitic infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0011990
name: seizures, benign familial neonatal, 3
subset: gard_rare {source="GARD:15427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BFNS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608217]
synonym: "convulsions, benign familial neonatal, 3" RELATED [OMIM:608217]
synonym: "seizures, benign familial neonatal, 3" EXACT [MONDO:Lexical, OMIM:608217]
xref: GARD:15427 {source="MONDO:GARD"}
xref: MEDGEN:334063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564274 {source="MONDO:equivalentTo"}
xref: OMIM:608217 {source="MONDO:equivalentTo"}
xref: Orphanet:1949 {source="OMIM:608217"}
xref: UMLS:C1842382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334063"}
is_a: MONDO:0016027 {source="DC-OMIM:608217", source="OMIM:608217"} ! benign neonatal seizures

[Term]
id: MONDO:0011991
name: autosomal recessive nonsyndromic hearing loss 38
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27." [DOID:0110496, PMID:12890929]
subset: gard_rare {source="GARD:22606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 38" NARROW [DOID:0110496]
synonym: "autosomal recessive nonsyndromic deafness 38" NARROW [OMIM:608219]
synonym: "autosomal recessive nonsyndromic deafness type 38" NARROW [DOID:0110496, MONDORULE:2]
synonym: "deafness, autosomal recessive 38" NARROW [MONDO:Lexical, OMIM:608219, OMIM:genemap2]
synonym: "DFNB38" NARROW ABBREVIATION [DOID:0110496, MONDO:Lexical, OMIM:608219]
xref: DOID:0110496 {source="MONDO:equivalentTo"}
xref: GARD:22606 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110496"}
xref: MEDGEN:330838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564273 {source="MONDO:equivalentTo"}
xref: OMIM:608219 {source="MONDO:equivalentTo", source="DOID:0110496"}
xref: UMLS:C1842381 {source="MEDGEN:330838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:608219", source="DOID:0110496", source="OMIM:608219"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011992
name: hereditary spastic paraplegia 25
def: "Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1." [Orphanet:101005]
subset: gard_rare {source="GARD:9582", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:101005"}
subset: orphanet_rare {source="Orphanet:101005"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 25" EXACT [DOID:0110776]
synonym: "autosomal recessive spastic paraplegia type 25" EXACT [DOID:0110776]
synonym: "autosomal recessive spastic paraplegia-disc herniation syndrome" EXACT [Orphanet:101005]
synonym: "Disc herniation with spastic paraplegia, autosomal recessive" RELATED [OMIM:608220]
synonym: "hereditary spastic paraplegia type 25" EXACT [DOID:0110776, MONDORULE:2]
synonym: "spastic paraplegia 25" RELATED [GARD:0009582]
synonym: "spastic paraplegia 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608220]
synonym: "SPG25" EXACT ABBREVIATION [DOID:0110776, MONDO:Lexical, OMIM:608220, Orphanet:101005]
synonym: "spinal disc herniation with autosomal recessive spastic paraplegia" RELATED OMO:0003005 []
synonym: "spinal disk herniation with autosomal recessive spastic paraplegia" RELATED [GARD:0009582]
xref: DOID:0110776 {source="MONDO:equivalentTo"}
xref: GARD:9582 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110776", source="Orphanet:101005/attributed", source="Orphanet:101005/ntbt", source="Orphanet:101005"}
xref: MEDGEN:424835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536861 {source="Orphanet:101005", source="MONDO:equivalentTo", source="Orphanet:101005/e"}
xref: OMIM:608220 {source="DOID:0110776", source="Orphanet:101005", source="MONDO:equivalentTo", source="Orphanet:101005/e"}
xref: Orphanet:101005 {source="DOID:0110776", source="MONDO:equivalentTo", source="OMIM:608220"}
xref: SCTID:732933009 {source="MONDO:equivalentTo"}
xref: UMLS:C2936860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424835"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110776", source="MESH:C536861", source="MONDO:Redundant", source="OMIM:608220", source="Orphanet:101005/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0011993
name: aspirin resistance
synonym: "aspirin resistance" EXACT [OMIM:608223]
synonym: "aspirin, resistance to Antithrombotic Effect of" RELATED [OMIM:608223]
synonym: "aspirin, resistance to Cardioprotective Effect of" RELATED [OMIM:608223]
xref: MEDGEN:330835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608223 {source="MONDO:equivalentTo"}
xref: UMLS:C1842372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330835"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0011994
name: autosomal dominant nonsyndromic hearing loss 41
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 41" NARROW [DOID:0110567]
synonym: "autosomal dominant nonsyndromic deafness 41" NARROW [OMIM:608224]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in P2RX2" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 41" NARROW [DOID:0110567, MONDORULE:2]
synonym: "deafness, autosomal dominant 41" NARROW [MONDO:Lexical, OMIM:608224, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 41" NARROW [MONDORULE:2, OMIM:608224]
synonym: "DFNA41" NARROW ABBREVIATION [DOID:0110567, MONDO:Lexical, OMIM:608224]
synonym: "P2RX2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110567 {source="MONDO:equivalentTo"}
xref: GARD:18121 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110567"}
xref: MEDGEN:330834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564272 {source="MONDO:equivalentTo"}
xref: OMIM:608224 {source="DOID:0110567", source="MONDO:equivalentTo"}
xref: UMLS:C1842371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330834"}
is_a: MONDO:0019587 {source="DC-OMIM:608224", source="DOID:0110567", source="MONDO:Redundant", source="OMIM:608224"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15459 ! P2RX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15459 {source="MONDO:mim2gene_medgen"} ! P2RX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0011995
name: cataract - congenital heart disease - neural tube defect syndrome
def: "Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported." [Orphanet:314993]
subset: gard_rare {source="GARD:17440", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:314993"}
subset: ordo_malformation_syndrome {source="Orphanet:314993"}
subset: orphanet_rare {source="Orphanet:314993"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability" RELATED [OMIM:608227]
synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" RELATED DEPRECATED [OMIM:608227]
xref: GARD:17440 {source="MONDO:GARD"}
xref: MEDGEN:330832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564271 {source="MONDO:equivalentTo"}
xref: OMIM:608227 {source="Orphanet:314993/e", source="MONDO:equivalentTo", source="Orphanet:314993"}
xref: Orphanet:314993 {source="OMIM:608227", source="MONDO:equivalentTo"}
xref: UMLS:C1842363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330832"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:314993", source="Orphanet:314993/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0011996
name: chronic myelogenous leukemia, BCR-ABL1 positive
def: "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." [NCIT:C3174]
subset: gard_rare {source="GARD:6105", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521"}
subset: orphanet_rare {source="Orphanet:521"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCR-ABL Positive chronic myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "BCR-ABL Positive chronic myelogenous leukemia" EXACT [NCIT:C3174]
synonym: "chronic granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "chronic granulocytic leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521]
synonym: "chronic myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "chronic myelocytic leukemia" EXACT [NCIT:C3174]
synonym: "chronic myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "chronic myelogenous leukaemia (CML)" EXACT OMO:0003005 []
synonym: "chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521]
synonym: "chronic myelogenous leukemia (CML)" EXACT [NCIT:C3174]
synonym: "chronic myelogenous leukemia, BCR-ABL1 Positive" EXACT [NCIT:C3174]
synonym: "chronic myelogenous leukemias" EXACT [NCIT:C3174]
synonym: "chronic myeloid leukaemia" EXACT OMO:0003005 []
synonym: "chronic myeloid leukemia" EXACT [DOID:8552, NCIT:C3174]
synonym: "CML" EXACT ABBREVIATION [DOID:8552, MONDO:Lexical, NCIT:C3174, OMIM:608232, Orphanet:521]
synonym: "CML - chronic myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "CML - chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174]
synonym: "hematopoeitic - chronic myelocytic leukaemia (CML)" EXACT OMO:0003005 []
synonym: "hematopoeitic - chronic myelocytic leukemia (CML)" EXACT [NCIT:C3174]
synonym: "leukemia, chronic myelogenous" RELATED [OMIM:608232]
synonym: "leukemia, chronic myeloid" RELATED [MONDO:Lexical, OMIM:608232]
synonym: "leukemia, chronic myeloid, atypical" RELATED [OMIM:608232]
synonym: "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic" EXACT [OMIM:608232, OMIM:genemap2]
synonym: "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation" EXACT [OMIM:608232, OMIM:genemap2]
synonym: "myeloid leukemia, chronic" EXACT [DOID:8552, MONDO:patterns/chronic, MTH:NOCODE]
xref: DOID:0081088 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:8552 {source="MONDO:equivalentTo", source="EFO:0000339"}
xref: EFO:0000339 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6105 {source="MONDO:GARD"}
xref: ICD10CM:C92.1 {source="Orphanet:521", source="Orphanet:521/e"}
xref: ICD9:205.1 {source="DOID:8552", source="EFO:0000339"}
xref: ICDO:9863/3 {source="NCIT:C3174"}
xref: ICDO:9875/3 {source="NCIT:C3174"}
xref: MedDRA:10009013 {source="Orphanet:521", source="Orphanet:521/e"}
xref: MEDGEN:75993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015464 {source="DOID:8552", source="EFO:0000339"}
xref: MESH:D015466 {source="EFO:0000339"}
xref: NANDO:2200013 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3172 {source="ONCOTREE:CML"}
xref: NCIT:C3174 {source="MONDO:equivalentTo", source="DOID:8552"}
xref: NCIT:C3177 {source="EFO:0000339", source="MONDO:directSiblingOf"}
xref: OMIM:608232 {source="Orphanet:521", source="MONDO:equivalentTo", source="Orphanet:521/e", source="DOID:8552", source="EFO:0000339"}
xref: ONCOTREE:CML {source="MONDO:equivalentTo"}
xref: Orphanet:521 {source="MONDO:equivalentTo", source="OMIM:608232"}
xref: SCTID:154592009 {source="DOID:8552"}
xref: SCTID:188735005 {source="DOID:8552"}
xref: SCTID:63364005 {source="DOID:8552", source="EFO:0000339"}
xref: SCTID:92817004 {source="EFO:0000339"}
xref: SCTID:92818009 {source="DOID:8552", source="EFO:0000339"}
xref: UMLS:C0279543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75993"}
is_a: MONDO:0004643 {source="DOID:8552", source="MONDO:Entailed", source="NCIT:C3174"} ! myeloid leukemia
is_a: MONDO:0020076 {source="EFO:0000339", source="MONDO:Redundant", source="NCIT:C3174", source="ONCOTREE:CML", source="Orphanet:521"} ! myeloproliferative neoplasm
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1014 {source="MONDO:mim2gene_medgen"} ! BCR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0011997
name: Hermansky-Pudlak syndrome 2
def: "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." [Orphanet:183678]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:664500", source="Orphanet:183678"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AP3B1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky Pudlak syndrome 2" RELATED [GARD:0009435]
synonym: "Hermansky-Pudlak syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608233]
synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3B1" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 2" EXACT [DOID:0060540, MONDORULE:1, OMIM:608233, Orphanet:183678]
synonym: "Hermansky-Pudlak syndrome with neutropenia" RELATED [Orphanet:183678]
synonym: "HPS-2" EXACT ABBREVIATION [Orphanet:183678]
synonym: "HPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608233, Orphanet:183678]
synonym: "Platelet defects and oculocutaneous albinism" RELATED [GARD:0009435]
xref: DOID:0060540 {source="MONDO:equivalentTo"}
xref: GARD:15026 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:183678/attributed", source="Orphanet:183678/ntbt", source="Orphanet:183678"}
xref: MEDGEN:374912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537709 {source="MONDO:equivalentTo"}
xref: NANDO:2200733 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C150368 {source="MONDO:equivalentTo"}
xref: OMIM:608233 {source="Orphanet:183678/e", source="DOID:0060540", source="MONDO:equivalentTo", source="Orphanet:183678"}
xref: Orphanet:183678 {source="MONDO:equivalentTo", source="OMIM:608233"}
xref: Orphanet:664500 {source="MONDO:equivalentTo"}
xref: Orphanet:79430 {source="OMIM:608233"}
xref: UMLS:C1842362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374912"}
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis
is_a: MONDO:0019312 {source="DC-OMIM:608233", source="DOID:0060540", source="MESH:C537709", source="MONDO:Redundant", source="NCIT:C150368", source="OMIM:608233", source="Orphanet:183678"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/566 ! AP3B1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/566 {source="MONDO:mim2gene_medgen"} ! AP3B1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2" xsd:anyURI {source="GARD:0009435"}

[Term]
id: MONDO:0011998
name: autosomal dominant slowed nerve conduction velocity
def: "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene." [Orphanet:140481]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16962", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140481"}
subset: orphanet_rare {source="Orphanet:140481"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant slowed nerve conduction velocity" EXACT CLINGEN_LABEL []
synonym: "slowed nerve conduction velocity, AD" EXACT [OMIM:608236, OMIM:genemap2]
synonym: "slowed nerve conduction velocity, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608236]
synonym: "SNCV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608236]
xref: GARD:16962 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:140481/attributed", source="Orphanet:140481/ntbt", source="Orphanet:140481"}
xref: MEDGEN:330829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564269 {source="MONDO:equivalentTo"}
xref: OMIM:608236 {source="Orphanet:140481", source="MONDO:equivalentTo", source="Orphanet:140481/e"}
xref: Orphanet:140481 {source="MONDO:equivalentTo", source="OMIM:608236"}
xref: SCTID:764854006 {source="MONDO:equivalentTo"}
xref: UMLS:C1842357 {source="MEDGEN:330829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary motor and sensory neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14103 {source="MONDO:mim2gene_medgen"} ! ARHGEF10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0011999
name: otosclerosis 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "otosclerosis 3" EXACT [MONDO:Lexical, OMIM:608244]
synonym: "OTSC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608244]
xref: DOID:0060922 {source="MONDO:equivalentTo"}
xref: MEDGEN:334054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564268 {source="MONDO:equivalentTo"}
xref: OMIM:608244 {source="MONDO:equivalentTo"}
xref: Orphanet:2794 {source="OMIM:608244"}
xref: UMLS:C1842353 {source="MEDGEN:334054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005349 {source="DC-OMIM:608244", source="MESH:C564268", source="OMIM:608244"} ! otosclerosis

[Term]
id: MONDO:0012000
name: specific phobia
def: "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "phobia, simple" RELATED [OMIM:608251]
synonym: "phobia, specific" RELATED [OMIM:608251]
synonym: "simple phobia" EXACT [DOID:599]
xref: DOID:599 {source="MONDO:equivalentTo"}
xref: EFO:1001918 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F40.2 {source="DOID:599"}
xref: ICD9:300.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:65932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562465 {source="DOID:599", source="MONDO:equivalentTo"}
xref: NCIT:C35284 {source="DOID:599", source="MONDO:equivalentTo"}
xref: OMIM:608251 {source="DOID:599", source="MONDO:equivalentTo"}
xref: SCTID:192396001 {source="DOID:599"}
xref: SCTID:54587008 {source="DOID:599", source="MONDO:equivalentTo"}
xref: UMLS:C0236801 {source="MEDGEN:65932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003699 {source="DOID:599", source="EFO:1001918", source="MESH:C562465", source="NCIT:C35284"} ! phobic disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012001
name: mandibulofacial dysostosis with ptosis, autosomal dominant
synonym: "mandibulofacial dysostosis with ptosis, autosomal dominant" EXACT [OMIM:608257]
xref: MEDGEN:331276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564267 {source="MONDO:equivalentTo"}
xref: OMIM:608257 {source="MONDO:equivalentTo"}
xref: UMLS:C1842349 {source="MEDGEN:331276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012002
name: autosomal recessive nonsyndromic hearing loss 40
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1." [DOID:0110499, PMID:14512974]
subset: gard_rare {source="GARD:22607", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 40" NARROW [DOID:0110499]
synonym: "autosomal recessive nonsyndromic deafness 40" NARROW [OMIM:608264]
synonym: "autosomal recessive nonsyndromic deafness type 40" NARROW [DOID:0110499, MONDORULE:2]
synonym: "deafness, autosomal recessive 40" NARROW [MONDO:Lexical, OMIM:608264, OMIM:genemap2]
synonym: "DFNB40" NARROW ABBREVIATION [DOID:0110499, MONDO:Lexical, OMIM:608264]
xref: DOID:0110499 {source="MONDO:equivalentTo"}
xref: GARD:22607 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110499"}
xref: MEDGEN:334053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564266 {source="MONDO:equivalentTo"}
xref: OMIM:608264 {source="MONDO:equivalentTo", source="DOID:0110499"}
xref: Orphanet:90636 {source="OMIM:608264"}
xref: UMLS:C1842345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334053"}
is_a: MONDO:0019588 {source="DC-OMIM:608264", source="DOID:0110499", source="OMIM:608264"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012003
name: autosomal recessive nonsyndromic hearing loss 39
def: "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." [NCIT:C129874]
subset: gard_rare {source="GARD:22608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 39" NARROW [DOID:0110497]
synonym: "autosomal recessive nonsyndromic deafness 39" NARROW [OMIM:608265]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in HGF" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 39" NARROW [DOID:0110497, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 39" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 39" NARROW [MONDO:Lexical, OMIM:608265, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 39" NARROW [MONDORULE:2, OMIM:608265]
synonym: "DFNB39" NARROW ABBREVIATION [DOID:0110497, MONDO:Lexical, OMIM:608265]
synonym: "HGF autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110497 {source="MONDO:equivalentTo"}
xref: GARD:22608 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110497"}
xref: MEDGEN:374909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564265 {source="MONDO:equivalentTo"}
xref: NCIT:C129874 {source="MONDO:equivalentTo"}
xref: OMIM:608265 {source="MONDO:equivalentTo", source="DOID:0110497"}
xref: Orphanet:90636 {source="OMIM:608265"}
xref: UMLS:C1842342 {source="MEDGEN:374909", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:608265", source="DOID:0110497", source="MONDO:Redundant", source="OMIM:608265"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4893 ! HGF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4893 {source="MONDO:mim2gene_medgen"} ! HGF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012004
name: parathyroid gland carcinoma
def: "A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." [https://orcid.org/0000-0001-5208-3432, Orphanet:143]
subset: gard_rare {source="GARD:7329", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:143"}
subset: orphanet_rare {source="Orphanet:143"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenocarcinoma of parathyroid" EXACT [NCIT:C4906]
synonym: "adenocarcinoma of parathyroid gland" EXACT [NCIT:C4906]
synonym: "adenocarcinoma of the parathyroid" EXACT [NCIT:C4906]
synonym: "adenocarcinoma of the parathyroid gland" EXACT [NCIT:C4906]
synonym: "cancer of parathyroid gland" BROAD [NCIT:C4906]
synonym: "cancer of the parathyroid gland" BROAD [NCIT:C4906]
synonym: "carcinoma of parathyroid" EXACT [NCIT:C4906]
synonym: "carcinoma of parathyroid gland" EXACT [DOID:1540, MONDO:patterns/carcinoma, NCIT:C4906]
synonym: "carcinoma of the parathyroid" EXACT [NCIT:C4906]
synonym: "carcinoma of the parathyroid gland" EXACT [NCIT:C4906]
synonym: "malignant neoplasm of parathyroid gland" BROAD [DOID:1540, ICD9CM:194.1]
synonym: "malignant neoplasm of the parathyroid" BROAD [DOID:1540, NCIT:C9322]
synonym: "malignant tumor of parathyroid gland" BROAD EXCLUDE [DOID:1540]
synonym: "malignant tumour of parathyroid gland" BROAD OMO:0003005 []
synonym: "neoplasm of parathyroid gland" BROAD EXCLUDE [DOID:1540]
synonym: "parathyroid adenocarcinoma" EXACT [NCIT:C4906]
synonym: "parathyroid cancer" BROAD [NCIT:C4906]
synonym: "parathyroid cancer, NOS" BROAD EXCLUDE [NCIT:C4906]
synonym: "parathyroid carcinoma" EXACT [NCIT:C4906, OMIM:608266]
synonym: "parathyroid gland adenocarcinoma" EXACT [DOID:1540, NCIT:C4906]
synonym: "parathyroid gland cancer" BROAD [DOID:1540, NCIT:C4906]
synonym: "parathyroid gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C4906]
synonym: "parathyroid gland neoplasm" BROAD [DOID:1540, NCIT:C3313]
synonym: "parathyroid neoplasm" BROAD [DOID:1540]
synonym: "PRTC" RELATED ABBREVIATION [OMIM:608266]
xref: DOID:1540 {source="MONDO:equivalentTo"}
xref: EFO:1000456 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7329 {source="MONDO:GARD"}
xref: ICD10CM:C75.0 {source="DOID:1540", source="Orphanet:143/ntbt", source="Orphanet:143"}
xref: ICD9:194.1 {source="DOID:1540"}
xref: MEDGEN:146361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010282 {source="DOID:1540"}
xref: NCIT:C3313 {source="DOID:1540"}
xref: NCIT:C4906 {source="DOID:1540", source="MONDO:equivalentTo", source="EFO:1000456"}
xref: NCIT:C9322 {source="DOID:1540"}
xref: OMIM:608266 {source="DOID:1540", source="Orphanet:143/e", source="MONDO:equivalentTo", source="EFO:1000456", source="Orphanet:143"}
xref: ONCOTREE:PTHC {source="MONDO:equivalentTo"}
xref: Orphanet:143 {source="MONDO:equivalentTo", source="OMIM:608266"}
xref: SCTID:127020005 {source="DOID:1540"}
xref: SCTID:255037004 {source="DOID:1540", source="MONDO:equivalentTo"}
xref: SCTID:363481002 {source="DOID:1540"}
xref: SCTID:93943008 {source="DOID:1540"}
xref: UMLS:C0687150 {source="MEDGEN:146361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="NCIT:C4906"} ! adenocarcinoma
is_a: MONDO:0004993 {source="DOID:1540", source="EFO:1000456", source="MONDO:0012004/inferred", source="MONDO:Redundant", source="NCIT:C4906/inferred"} ! carcinoma
is_a: MONDO:0021069 {source="DOID:1540", source="MONDO:Redundant", source="NCIT:C4906"} ! malignant endocrine neoplasm
is_a: MONDO:0021311 {source="MONDO:Redundant", source="NCIT:C4906", source="ONCOTREE:PTHC"} ! malignant tumor of parathyroid gland
is_a: MONDO:0021360 {source="MONDO:Redundant", source="Orphanet:143"} ! tumor of parathyroid gland
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015076"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16783 {source="MONDO:mim2gene_medgen"} ! CDC73

[Term]
id: MONDO:0012005
name: growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
synonym: "growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" EXACT [OMIM:608278]
synonym: "growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" EXACT DEPRECATED [OMIM:608278]
xref: MEDGEN:330820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564264 {source="MONDO:equivalentTo"}
xref: OMIM:608278 {source="MONDO:equivalentTo"}
xref: UMLS:C1842321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330820"}
is_a: MONDO:0003847 {source="MESH:C564264/inferred"} ! hereditary disease

[Term]
id: MONDO:0012006
name: craniosynostosis with ocular abnormalities and hallucal defects
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "craniosynostosis with ocular abnormalities and hallucal defects" EXACT [OMIM:608279]
xref: MEDGEN:331266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564263 {source="MONDO:equivalentTo"}
xref: OMIM:608279 {source="MONDO:equivalentTo"}
xref: UMLS:C1842316 {source="MONDO:equivalentTo", source="MEDGEN:331266", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MESH:C564263"} ! craniosynostosis

[Term]
id: MONDO:0012007
name: scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities
synonym: "anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities" RELATED [OMIM:608281]
synonym: "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" EXACT [OMIM:608281]
xref: MEDGEN:331265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564262 {source="MONDO:equivalentTo"}
xref: OMIM:608281 {source="MONDO:equivalentTo"}
xref: UMLS:C1842315 {source="MEDGEN:331265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012008
name: Lelis syndrome
def: "Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans." [Orphanet:140936]
subset: gard_rare {source="GARD:10367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140936"}
subset: ordo_malformation_syndrome {source="Orphanet:140936"}
subset: orphanet_rare {source="Orphanet:140936"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia, hypohidrotic, with acanthosis nigricans" RELATED [OMIM:608290]
synonym: "ectodermal dysplasia-acanthosis nigricans syndrome" EXACT [Orphanet:140936]
synonym: "Lelis syndrome" EXACT [OMIM:608290]
xref: GARD:10367 {source="MONDO:GARD"}
xref: MEDGEN:334042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564261 {source="MONDO:equivalentTo"}
xref: OMIM:608290 {source="Orphanet:140936", source="MONDO:equivalentTo", source="Orphanet:140936/e"}
xref: Orphanet:140936 {source="OMIM:608290", source="MONDO:equivalentTo"}
xref: SCTID:719429003 {source="MONDO:equivalentTo"}
xref: UMLS:C1842307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334042"}
is_a: MONDO:0019287 {source="MESH:C564261", source="Orphanet:140936"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome" xsd:anyURI {source="GARD:0010367"}

[Term]
id: MONDO:0012009
name: coronary heart disease, susceptibility to, 2
subset: predisposition
synonym: "Chds2" RELATED [OMIM:608316]
synonym: "coronary heart disease, susceptibility to, 2" EXACT [OMIM:608316]
synonym: "coronary heart disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608316]
xref: MEDGEN:330807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608316 {source="MONDO:equivalentTo"}
xref: UMLS:C1842260 {source="MEDGEN:330807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:608316", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
relationship: predisposes_towards MONDO:0005010 {source="OMIM:608316"} ! coronary artery disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012010
name: coronary heart disease, susceptibility to, 4
subset: predisposition
synonym: "Chds4" RELATED [OMIM:608318]
synonym: "coronary heart disease, susceptibility to, 4" EXACT [OMIM:608318]
synonym: "coronary heart disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608318]
xref: MEDGEN:374891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608318 {source="MONDO:equivalentTo"}
xref: UMLS:C1842258 {source="MEDGEN:374891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:608318", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
relationship: predisposes_towards MONDO:0005010 {source="OMIM:608318"} ! coronary artery disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012011
name: coronary artery disease, autosomal dominant, 1
def: "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADCAD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608320]
synonym: "coronary artery disease caused by mutation in MEF2A" EXACT [MONDO:design_pattern]
synonym: "coronary artery disease with myocardial infarction" RELATED [OMIM:608320]
synonym: "coronary artery disease, autosomal dominant, 1" EXACT [MONDO:Lexical, OMIM:608320]
synonym: "coronary artery disease, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:608320]
synonym: "MEF2A coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:330802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564258 {source="MONDO:equivalentTo"}
xref: OMIM:608320 {source="MONDO:equivalentTo"}
xref: UMLS:C1842247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330802"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005010 {source="DC-OMIM:608320", source="MESH:C564258", source="MONDO:Redundant"} ! coronary artery disorder
intersection_of: MONDO:0005010 ! coronary artery disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6993 ! MEF2A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6993 {source="MONDO:mim2gene_medgen"} ! MEF2A

[Term]
id: MONDO:0012012
name: Charcot-Marie-Tooth disease dominant intermediate C
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs." [Orphanet:100045]
subset: gard_rare {source="GARD:12439", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100045"}
subset: orphanet_rare {source="Orphanet:100045"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110199]
synonym: "Charcot-Marie-Tooth disease caused by mutation in YARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type C" EXACT [DOID:0110199, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate C" RELATED [MONDO:Lexical, OMIM:608323]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type C" EXACT [MONDORULE:1, OMIM:608323]
synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate C" EXACT [DOID:0110199]
synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate C" RELATED [OMIM:608323]
synonym: "CMTDIC" EXACT ABBREVIATION [DOID:0110199, MONDO:Lexical, OMIM:608323, Orphanet:100045]
synonym: "DI-CMTC" EXACT [DOID:0110199]
synonym: "Di-Cmtc" RELATED [OMIM:608323]
synonym: "YARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "YARS-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012439]
xref: DOID:0110199 {source="MONDO:equivalentTo"}
xref: GARD:12439 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:100045/attributed", source="Orphanet:100045/ntbt", source="Orphanet:100045", source="DOID:0110199"}
xref: MEDGEN:334023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564257 {source="MONDO:equivalentTo"}
xref: OMIM:608323 {source="Orphanet:100045", source="MONDO:equivalentTo", source="Orphanet:100045/e", source="DOID:0110199"}
xref: Orphanet:100045 {source="MONDO:equivalentTo", source="OMIM:608323", source="DOID:0110199"}
xref: SCTID:765746008 {source="MONDO:equivalentTo"}
xref: UMLS:C1842237 {source="MEDGEN:334023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110199/inferred", source="MESH:C564257", source="MONDO:Redundant", source="OMIM:608323", source="Orphanet:100045/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0019548 {source="Orphanet:100045", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12840 ! YARS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12840 {source="MONDO:mim2gene_medgen"} ! YARS1

[Term]
id: MONDO:0012013
name: Weill-Marchesani syndrome 2, dominant
def: "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." [Orphanet:2084]
subset: gard_rare {source="GARD:2452", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2084"}
subset: ordo_malformation_syndrome {source="Orphanet:2084"}
subset: orphanet_rare {source="Orphanet:2084"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GEMSS" EXACT ABBREVIATION [GARD:0002452]
synonym: "GEMSS syndrome" EXACT [Orphanet:2084]
synonym: "glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome" EXACT [GARD:0002452]
synonym: "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome" EXACT [OMIM:608328]
synonym: "mesodermal Dysmorphodystrophy, congenital" BROAD [OMIM:608328]
synonym: "spherophakia-brachymorphia syndrome" BROAD [OMIM:608328]
synonym: "Weill-Marchesani syndrome 2" EXACT [MONDO:Lexical, OMIM:608328]
synonym: "Weill-Marchesani syndrome type 2" EXACT [MONDORULE:1, OMIM:608328]
synonym: "Weill-Marchesani syndrome, autosomal dominant" EXACT [OMIM:608328]
synonym: "WMS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608328]
xref: GARD:2452 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2084/attributed", source="Orphanet:2084/ntbt", source="Orphanet:2084"}
xref: MEDGEN:358388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608328 {source="Orphanet:2084/e", source="MONDO:equivalentTo", source="Orphanet:2084"}
xref: Orphanet:2084 {source="OMIM:608328", source="MONDO:equivalentTo"}
xref: Orphanet:3449 {source="OMIM:608328"}
xref: SCTID:722450007 {source="MONDO:equivalentTo"}
xref: UMLS:C1869115 {source="MEDGEN:358388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018096 {source="DC-OMIM:608328", source="OMIM:608328"} ! Weill-Marchesani syndrome
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012014
name: Charcot-Marie-Tooth disease recessive intermediate A
def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." [Orphanet:217055]
subset: gard_rare {source="GARD:12453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217055"}
subset: orphanet_rare {source="Orphanet:217055"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110201]
synonym: "Charcot-Marie-Tooth disease caused by mutation in GDAP1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease recessive intermediate type A" EXACT [DOID:0110201, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate A" RELATED [MONDO:Lexical, OMIM:608340]
synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type a" EXACT [MONDORULE:1, OMIM:608340]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate, A" RELATED [GARD:0012453]
synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate A" EXACT [DOID:0110201]
synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate a" RELATED [OMIM:608340]
synonym: "CMTRIA" EXACT ABBREVIATION [DOID:0110201, MONDO:Lexical, OMIM:608340]
synonym: "GDAP1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RI-CMT type A" EXACT [Orphanet:217055]
synonym: "RI-CMTA" EXACT [DOID:0110201]
synonym: "Ri-Cmta" RELATED [OMIM:608340]
xref: DOID:0110201 {source="MONDO:equivalentTo"}
xref: GARD:12453 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:217055/attributed", source="Orphanet:217055/ntbt", source="Orphanet:217055"}
xref: MEDGEN:334012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564256 {source="MONDO:equivalentTo"}
xref: OMIM:608340 {source="Orphanet:217055/e", source="MONDO:equivalentTo", source="Orphanet:217055", source="DOID:0110201"}
xref: Orphanet:217055 {source="MONDO:equivalentTo", source="OMIM:608340", source="DOID:0110201"}
xref: UMLS:C1842197 {source="MEDGEN:334012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110201/inferred", source="MESH:C564256", source="MONDO:Redundant", source="OMIM:608340", source="Orphanet:217055/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0017058 {source="Orphanet:217055"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 ! GDAP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15968 {source="MONDO:mim2gene_medgen"} ! GDAP1

[Term]
id: MONDO:0012015
name: nystagmus 3, congenital, autosomal dominant
synonym: "NYS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608345]
synonym: "NYSTAGMUS 3, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608345]
xref: DOID:0111793 {source="MONDO:equivalentTo"}
xref: MEDGEN:374873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537855 {source="MONDO:equivalentTo"}
xref: OMIM:608345 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:608345"}
xref: UMLS:C1842186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374873"}
is_a: MONDO:0005712 {source="DC-OMIM:608345", source="MESH:C537855", source="OMIM:608345"} ! congenital nystagmus

[Term]
id: MONDO:0012016
name: capillary malformation-arteriovenous malformation syndrome
def: "This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." [Orphanet:137667]
subset: gard_rare {source="GARD:11904", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137667"}
subset: ordo_malformation_syndrome {source="Orphanet:137667"}
subset: orphanet_rare {source="Orphanet:137667"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "capillary malformation without arteriovenous malformation" RELATED [OMIM:608354]
synonym: "capillary malformation-arteriovenous malformation" RELATED [MONDO:Lexical, OMIM:608354]
synonym: "CM-AVM" EXACT [Orphanet:137667]
synonym: "CM-AVM syndrome" RELATED [GARD:0011904]
synonym: "CMAVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608354]
xref: GARD:11904 {source="MONDO:GARD"}
xref: ICD10CM:Q27.3 {source="Orphanet:137667/attributed", source="Orphanet:137667/ntbt", source="Orphanet:137667"}
xref: ICD9:747.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:334007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564254 {source="MONDO:equivalentTo"}
xref: NCIT:C179668 {source="MONDO:equivalentTo"}
xref: OMIMPS:608354 {source="MONDO:equivalentTo"}
xref: Orphanet:137667 {source="MONDO:equivalentTo", source="OMIM:608354"}
xref: SCTID:703533007 {source="MONDO:equivalentTo"}
xref: UMLS:C1842180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334007"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0016231 {source="Orphanet:137667"} ! capillary malformation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608354"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome" xsd:anyURI {source="GARD:0011904"}

[Term]
id: MONDO:0012017
name: obsolete Parkes Weber syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/114" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020783

[Term]
id: MONDO:0012018
name: obsolete myopathy, myosin storage, autosomal dominant
xref: GARD:15429 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6045" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008409

[Term]
id: MONDO:0012019
name: spondyloepiphyseal dysplasia, Kimberley type
def: "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy." [Orphanet:93283]
subset: gard_rare {source="GARD:16814", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93283"}
subset: orphanet_rare {source="Orphanet:93283"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEDK" RELATED ABBREVIATION [OMIM:608361]
synonym: "Sedk" RELATED [OMIM:608361]
synonym: "spondyloepiphyseal dysplasia, Kimberley type" EXACT [OMIM:608361]
xref: DOID:0112282 {source="MONDO:equivalentTo"}
xref: GARD:16814 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93283/attributed", source="Orphanet:93283/ntbt", source="Orphanet:93283"}
xref: MEDGEN:330777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564252 {source="MONDO:equivalentTo"}
xref: OMIM:608361 {source="Orphanet:93283/e", source="MONDO:equivalentTo", source="Orphanet:93283"}
xref: Orphanet:93283 {source="MONDO:equivalentTo", source="OMIM:608361"}
xref: SCTID:719203001 {source="MONDO:equivalentTo"}
xref: UMLS:C1842149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330777"}
is_a: MONDO:0016761 {source="Orphanet:93283"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/319 {source="MONDO:mim2gene_medgen"} ! ACAN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012020
name: chromosome 22q11.2 microduplication syndrome
def: "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome." [Orphanet:1727]
subset: gard_rare {source="GARD:10557", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1727"}
subset: ordo_malformation_syndrome {source="Orphanet:1727"}
subset: orphanet_rare {source="Orphanet:1727"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "22q11 duplication syndrome" EXACT [DECIPHER:32]
synonym: "22q11.2 duplication" RELATED [GARD:0010557]
synonym: "22q11.2 duplication syndrome" RELATED [GARD:0010557]
synonym: "22q11.2 microduplication syndrome" EXACT [DOID:0060436, GARD:0010557]
synonym: "chromosome 22q11.2 DUPLICATION syndrome" RELATED [OMIM:608363]
synonym: "chromosome 22q11.2 duplication syndrome" RELATED [GARD:0010557]
synonym: "chromosome 22q11.2 microduplication syndrome" EXACT [OMIM:608363]
synonym: "chromosome 22q11.2 microduplication syndrome, isolated cases" EXACT [OMIM:608363, OMIM:genemap2]
synonym: "dup(22)(q11)" EXACT [Orphanet:1727]
synonym: "Duplication 22q11.2" EXACT [Orphanet:1727]
synonym: "duplication 22q11.2" EXACT [DOID:0060436]
synonym: "trisomy 22q11.2" EXACT [DOID:0060436, Orphanet:1727]
xref: DECIPHER:32 {source="MONDO:equivalentTo"}
xref: DOID:0060436 {source="MONDO:equivalentTo"}
xref: GARD:10557 {source="MONDO:GARD"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:436417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567224 {source="MONDO:equivalentTo"}
xref: OMIM:608363 {source="Orphanet:1727/e", source="MONDO:equivalentTo", source="GARD:0010557", source="DOID:0060436", source="Orphanet:1727"}
xref: Orphanet:1727 {source="MONDO:equivalentTo", source="GARD:0010557", source="OMIM:608363", source="DOID:0060436"}
xref: SCTID:699311001 {source="MONDO:equivalentTo"}
xref: UMLS:C2675369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436417"}
is_a: MONDO:0000762 {source="DC-OMIM:608363", source="DOID:0060436"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016972 {source="Orphanet:1727"} ! partial duplication of the long arm of chromosome 22
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr22q11.2 ! 22q11.2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome" xsd:anyURI {source="GARD:0010557"}

[Term]
id: MONDO:0012021
name: myopia 17, autosomal dominant
synonym: "myopia 17, autosomal dominant" EXACT [MONDO:Lexical, OMIM:608367]
synonym: "myopia 4" RELATED [OMIM:608367]
synonym: "myopia 4, formerly" RELATED [OMIM:608367]
synonym: "MYP17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608367]
xref: MEDGEN:854818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608367 {source="MONDO:equivalentTo"}
xref: UMLS:C3888211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854818"}
is_a: MONDO:0001384 {source="DC-OMIM:608367", source="OMIM:608367"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012022
name: orofacial cleft 4
synonym: "cleft lip with or without cleft palate, nonsyndromic, 4" RELATED [OMIM:608371]
synonym: "OFC4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608371]
synonym: "orofacial cleft 4" EXACT [MONDO:Lexical, OMIM:608371]
xref: DOID:0080398 {source="MONDO:equivalentTo"}
xref: MEDGEN:331228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564251 {source="MONDO:equivalentTo"}
xref: OMIM:608371 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:608371"}
xref: UMLS:C1842143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331228"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:608371"} ! orofacial cleft
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0012023
name: autosomal dominant nonsyndromic hearing loss 49
def: "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23." [DOID:0110572, PMID:14627674]
subset: gard_rare {source="GARD:18122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 49" NARROW [DOID:0110572]
synonym: "autosomal dominant nonsyndromic deafness 49" NARROW [OMIM:608372]
synonym: "autosomal dominant nonsyndromic deafness type 49" NARROW [DOID:0110572, MONDORULE:2]
synonym: "deafness, autosomal dominant 49" NARROW [MONDO:Lexical, OMIM:608372, OMIM:genemap2]
synonym: "DFNA49" NARROW ABBREVIATION [DOID:0110572, MONDO:Lexical, OMIM:608372]
xref: DOID:0110572 {source="MONDO:equivalentTo"}
xref: GARD:18122 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110572"}
xref: MEDGEN:331222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564250 {source="MONDO:equivalentTo"}
xref: OMIM:608372 {source="MONDO:equivalentTo", source="DOID:0110572"}
xref: UMLS:C1842136 {source="MONDO:equivalentTo", source="MEDGEN:331222", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:608372", source="DOID:0110572", source="OMIM:608372"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012024
name: retinitis pigmentosa 26
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CERKL retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 26" EXACT [MONDO:Lexical, OMIM:608380]
synonym: "retinitis pigmentosa caused by mutation in CERKL" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 26" EXACT [DOID:0110368, MONDORULE:2, OMIM:608380]
synonym: "RP 26" RELATED [GARD:0010397]
synonym: "RP26" EXACT ABBREVIATION [DOID:0110368, MONDO:Lexical, OMIM:608380]
xref: DOID:0110368 {source="MONDO:equivalentTo"}
xref: GARD:10397 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110368", source="MONDO:relatedTo"}
xref: MEDGEN:333996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564249 {source="MONDO:equivalentTo"}
xref: OMIM:608380 {source="DOID:0110368", source="MONDO:equivalentTo"}
xref: UMLS:C1842127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333996"}
is_a: MONDO:0019200 {source="DC-OMIM:608380", source="DOID:0110368", source="MESH:C564249", source="MONDO:Redundant", source="OMIM:608380"} ! retinitis pigmentosa
is_a: MONDO:0800401 {source="https://clinicalgenome.org/affiliation/40072/"} ! CERKL-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21699 ! CERKL
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21699 {source="MONDO:mim2gene_medgen"} ! CERKL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10397/retinitis-pigmentosa-26" xsd:anyURI {source="GARD:0010397"}

[Term]
id: MONDO:0012025
name: branchiootic syndrome 3
def: "Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15430", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bo syndrome 3" RELATED [OMIM:608389]
synonym: "BOS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608389]
synonym: "branchiootic syndrome 3" EXACT [MONDO:Lexical, OMIM:608389]
synonym: "branchiootic syndrome caused by mutation in SIX1" EXACT [MONDO:design_pattern]
synonym: "branchiootic syndrome type 3" EXACT [MONDORULE:1, OMIM:608389]
synonym: "SIX1 branchiootic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15430 {source="MONDO:GARD"}
xref: MEDGEN:333995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564248 {source="MONDO:equivalentTo"}
xref: OMIM:608389 {source="MONDO:equivalentTo"}
xref: Orphanet:52429 {source="OMIM:608389"}
xref: UMLS:C1842124 {source="MEDGEN:333995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018878 {source="DC-OMIM:608389", source="MONDO:Redundant"} ! branchiootic syndrome
intersection_of: MONDO:0018878 ! branchiootic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 ! SIX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 {source="MONDO:mim2gene_medgen"} ! SIX1

[Term]
id: MONDO:0012026
name: obsolete myotonia, potassium-aggravated
is_obsolete: true
replaced_by: MONDO:0018959

[Term]
id: MONDO:0012027
name: autoimmune disease, susceptibility to, 2
subset: predisposition
synonym: "AIS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608391]
synonym: "autoimmune disease susceptibility locus, chromosome 7-related" RELATED [OMIM:608391]
synonym: "autoimmune disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:608391]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 3" RELATED [OMIM:608391]
xref: MEDGEN:331217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608391 {source="MONDO:equivalentTo"}
xref: Orphanet:247871 {source="OMIM:608391"}
xref: UMLS:C1842113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331217"}
is_a: MONDO:0020573 {source="OMIM:608391", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0007179 {source="OMIM:608391", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: predisposes_towards MONDO:0007179 {comment="OMIM:608391"} ! autoimmune disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012028
name: autoimmune disease, susceptibility to, 3
subset: predisposition
synonym: "AIS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608392]
synonym: "autoimmune disease susceptibility locus, chromosome 8-related" RELATED [OMIM:608392]
synonym: "autoimmune disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608392]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 4" RELATED [OMIM:608392]
xref: MEDGEN:333993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608392 {source="MONDO:equivalentTo"}
xref: Orphanet:247871 {source="OMIM:608392"}
xref: UMLS:C1842112 {source="MEDGEN:333993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:608392"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0007179 {source="OMIM:608392", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: predisposes_towards MONDO:0007179 {source="OMIM:608392"} ! autoimmune disease

[Term]
id: MONDO:0012029
name: microcephaly 6, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15431", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in CENPJ" EXACT [MONDO:design_pattern]
synonym: "CENPJ autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608393]
synonym: "microcephaly 6, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608393]
xref: DOID:0070290 {source="MONDO:equivalentTo"}
xref: GARD:15431 {source="MONDO:GARD"}
xref: MEDGEN:330770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564247 {source="MONDO:equivalentTo"}
xref: OMIM:608393 {source="MONDO:equivalentTo"}
xref: UMLS:C1842109 {source="MEDGEN:330770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="DC-OMIM:608393", source="MONDO:Redundant", source="OMIM:608393"} ! autosomal recessive primary microcephaly
is_a: MONDO:0700054 {source="https://clinicalgenome.org/affiliation/40060"} ! microcephaly 6 with or without short stature
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17272 {source="MONDO:mim2gene_medgen"} ! CENPJ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17272 {source="MONDO:mim2gene_medgen"} ! CENPJ

[Term]
id: MONDO:0012030
name: autosomal dominant nonsyndromic hearing loss 43
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12." [DOID:0110568, PMID:12676899]
subset: gard_rare {source="GARD:18123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 43" NARROW [DOID:0110568]
synonym: "autosomal dominant nonsyndromic deafness 43" NARROW [OMIM:608394]
synonym: "autosomal dominant nonsyndromic deafness type 43" NARROW [DOID:0110568, MONDORULE:2]
synonym: "deafness, autosomal dominant 43" NARROW [MONDO:Lexical, OMIM:608394, OMIM:genemap2]
synonym: "DFNA43" NARROW ABBREVIATION [DOID:0110568, MONDO:Lexical, OMIM:608394]
xref: DOID:0110568 {source="MONDO:equivalentTo"}
xref: GARD:18123 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110568"}
xref: MEDGEN:330769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564246 {source="MONDO:equivalentTo"}
xref: OMIM:608394 {source="DOID:0110568", source="MONDO:equivalentTo"}
xref: UMLS:C1842108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330769"}
is_a: MONDO:0019587 {source="DC-OMIM:608394", source="DOID:0110568", source="OMIM:608394"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012031
name: platelet-type bleeding disorder 10
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT10" EXACT ABBREVIATION [DOID:0111046]
synonym: "bleeding disorder, Platelet-type, 10" RELATED [OMIM:608404]
synonym: "CD36 deficiency" EXACT [DOID:0111046]
synonym: "CD36 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in CD36" EXACT [MONDO:design_pattern]
synonym: "platelet glycoprotein 4 deficiency" RELATED [OMIM:608404]
synonym: "platelet glycoprotein IV deficiency" EXACT [DOID:0111046]
synonym: "platelet-type bleeding disorder 10" EXACT CLINGEN_LABEL []
xref: DOID:0111046 {source="MONDO:equivalentTo"}
xref: MEDGEN:374856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564245 {source="MONDO:equivalentTo"}
xref: OMIM:608404 {source="MONDO:equivalentTo", source="DOID:0111046"}
xref: UMLS:C1842090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374856"}
is_a: MONDO:0000009 {source="DC-OMIM:608404", source="MONDO:Redundant", source="OMIM:608404"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0001531 {source="DOID:0111046", source="MONDO:Redundant"} ! blood coagulation disease
is_a: MONDO:0003847 {source="MESH:C564245", source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1663 ! CD36
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020116"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1663 {source="MONDO:mim2gene_medgen"} ! CD36

[Term]
id: MONDO:0012032
name: Braddock syndrome
def: "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." [Orphanet:52047]
subset: gard_rare {source="GARD:16652", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:52047"}
subset: ordo_malformation_syndrome {source="Orphanet:52047"}
subset: orphanet_rare {source="Orphanet:52047"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" RELATED [OMIM:608406]
synonym: "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency" EXACT [Orphanet:52047]
xref: GARD:16652 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:52047/attributed", source="Orphanet:52047/ntbt", source="Orphanet:52047"}
xref: MEDGEN:333986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564244 {source="MONDO:equivalentTo"}
xref: OMIM:608406 {source="Orphanet:52047", source="MONDO:equivalentTo", source="Orphanet:52047/e"}
xref: Orphanet:52047 {source="OMIM:608406", source="MONDO:equivalentTo"}
xref: SCTID:720575002 {source="MONDO:equivalentTo"}
xref: UMLS:C1842082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333986"}
is_a: MONDO:0005149 {source="MONDO:0017159-obsoleted"} ! pulmonary hypertension
is_a: MONDO:0015161 {source="Orphanet:52047"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:52047", source="Orphanet:52047/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0012033
name: bradyopsia
def: "Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." [Orphanet:75374]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75374"}
subset: orphanet_rare {source="Orphanet:75374"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bradyopsia" EXACT CLINGEN_LABEL [OMIM:608415]
synonym: "PERRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608415, Orphanet:75374]
synonym: "prolonged electroretinal response suppression" EXACT [DOID:0050335, MONDO:Lexical, OMIM:608415, Orphanet:75374]
xref: DOID:0050335 {source="MONDO:equivalentTo"}
xref: GARD:12299 {source="MONDO:GARD"}
xref: ICD10CM:H53.8 {source="Orphanet:75374/attributed", source="Orphanet:75374/ntbt", source="Orphanet:75374"}
xref: ICD9:368.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:331206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564243 {source="DOID:0050335", source="MONDO:equivalentTo"}
xref: OMIMPS:608415 {source="MONDO:equivalentTo"}
xref: Orphanet:75374 {source="OMIM:608415", source="DOID:0050335", source="MONDO:equivalentTo"}
xref: SCTID:711163009 {source="DOID:0050335", source="MONDO:equivalentTo"}
xref: UMLS:C1842073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331206"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005283 {source="DOID:0050335", source="MONDO:indirect"} ! retinal disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608415"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12299/bradyopsia" xsd:anyURI {source="GARD:0012299"}

[Term]
id: MONDO:0012034
name: autosomal dominant limb-girdle muscular dystrophy type 1F
def: "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." [Orphanet:55595]
subset: gard_rare {source="GARD:12530", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:55595"}
subset: orphanet_rare {source="Orphanet:55595"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LGMD1F" EXACT ABBREVIATION [DOID:0110304, MONDO:Lexical, OMIM:608423, Orphanet:55595]
synonym: "limb-girdle muscular dystrophy type 1F" RELATED [GARD:0012530]
synonym: "muscular dystrophy limb-girdle type 1F" EXACT [DOID:0110304]
synonym: "muscular dystrophy, limb-girdle, autosomal dominant 2" EXACT [OMIM:608423, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 1F" RELATED [MONDO:Lexical, OMIM:608423]
xref: DOID:0110304 {source="MONDO:equivalentTo"}
xref: GARD:12530 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0110304", source="Orphanet:55595/ntbt", source="Orphanet:55595/inclusion", source="Orphanet:55595"}
xref: MEDGEN:333983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564242 {source="MONDO:equivalentTo"}
xref: OMIM:608423 {source="Orphanet:55595/e", source="DOID:0110304", source="MONDO:equivalentTo", source="Orphanet:55595"}
xref: Orphanet:55595 {source="DOID:0110304", source="MONDO:equivalentTo", source="OMIM:608423"}
xref: SCTID:719989007 {source="MONDO:equivalentTo"}
xref: UMLS:C1842062 {source="MONDO:equivalentTo", source="MEDGEN:333983", source="MONDO:MEDGEN"}
is_a: MONDO:0015151 {source="DOID:0110304", source="OMIM:608423", source="Orphanet:55595"} ! muscular dystrophy, limb-girdle, autosomal dominant
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012035
name: craniosynostosis-intracranial calcifications syndrome
def: "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." [Orphanet:52054]
subset: gard_rare {source="GARD:16653", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:52054"}
subset: ordo_malformation_syndrome {source="Orphanet:52054"}
subset: orphanet_rare {source="Orphanet:52054"}
subset: rare
synonym: "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" RELATED [OMIM:608432]
synonym: "Longman-Tolmie syndrome" EXACT [Orphanet:52054]
xref: GARD:16653 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:52054/attributed", source="Orphanet:52054/ntbt", source="Orphanet:52054"}
xref: MEDGEN:333981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564241 {source="MONDO:equivalentTo"}
xref: OMIM:608432 {source="Orphanet:52054/e", source="MONDO:equivalentTo", source="Orphanet:52054"}
xref: Orphanet:52054 {source="MONDO:equivalentTo", source="OMIM:608432"}
xref: SCTID:720816004 {source="MONDO:equivalentTo"}
xref: UMLS:C1842058 {source="MEDGEN:333981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:52054"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID: 14564206", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0012036
name: systemic lupus erythematosus, susceptibility to, 4
subset: predisposition
synonym: "SLEB4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608437]
synonym: "systemic lupus erythematosus, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:608437]
xref: MEDGEN:374849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608437 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:608437"}
xref: UMLS:C1842057 {source="MEDGEN:374849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0012037
name: intellectual disability, autosomal recessive 3
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22539", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A" EXACT [MONDO:design_pattern]
synonym: "CC2D1A autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal recessive 3" EXACT [MONDO:Lexical, OMIM:608443]
synonym: "intellectual disability, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:608443]
synonym: "mental retardation, autosomal recessive 3" EXACT DEPRECATED [MONDO:Lexical, OMIM:608443]
synonym: "mental retardation, autosomal recessive type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:608443]
synonym: "MRT3" EXACT DEPRECATED [MONDO:Lexical, OMIM:608443]
xref: DOID:0081179 {source="MONDO:equivalentTo"}
xref: GARD:22539 {source="MONDO:GARD"}
xref: MEDGEN:373870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563929 {source="MONDO:equivalentTo"}
xref: OMIM:608443 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:608443"}
xref: UMLS:C1838023 {source="MEDGEN:373870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:608443", source="MONDO:Redundant", source="OMIM:608443"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30237 ! CC2D1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30237 {source="MONDO:mim2gene_medgen"} ! CC2D1A

[Term]
id: MONDO:0012038
name: speech-sound disorder
synonym: "speech-sound disorder" EXACT [OMIM:608445]
synonym: "SSD" RELATED ABBREVIATION [OMIM:608445]
xref: MEDGEN:866372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563928 {source="MONDO:equivalentTo"}
xref: OMIM:608445 {source="MONDO:equivalentTo"}
xref: UMLS:C4019167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:866372"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012039
name: myocardial infarction, susceptibility to
subset: predisposition
synonym: "myocardial infarction, decreased susceptibility to" EXACT [OMIM:608446, OMIM:genemap2]
synonym: "myocardial infarction, protection against" RELATED [OMIM:608446]
synonym: "myocardial infarction, susceptibility to" EXACT [OMIM:608446]
synonym: "myocardial infarction, susceptibility to, 1" RELATED [OMIM:608446]
synonym: "susceptibility to myocardial infarction" RELATED [OMIM:608446]
xref: MEDGEN:318680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608446 {source="MONDO:equivalentTo"}
xref: UMLS:C1832662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318680"}
is_a: MONDO:0020573 {source="OMIM:608446"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005068 ! myocardial infarction
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012040
name: inflammatory bowel disease 9
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26." [DOID:0110886, PMID:12354785]
synonym: "IBD9" EXACT ABBREVIATION [DOID:0110886, MONDO:Lexical, OMIM:608448]
synonym: "inflammatory bowel disease 9" EXACT [MONDO:Lexical, OMIM:608448]
synonym: "inflammatory bowel disease type 9" EXACT [DOID:0110886, MONDORULE:1]
xref: DOID:0110886 {source="MONDO:equivalentTo"}
xref: MEDGEN:324926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563926 {source="MONDO:equivalentTo"}
xref: OMIM:608448 {source="DOID:0110886", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:608448"}
xref: Orphanet:771 {source="OMIM:608448"}
xref: UMLS:C1838019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324926"}
is_a: MONDO:0005265 {source="DC-OMIM:608448", source="DOID:0110886", source="MESH:C563926", source="OMIM:608448"} ! inflammatory bowel disease

[Term]
id: MONDO:0012041
name: familial adenomatous polyposis 2
def: "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." [NCIT:C96520]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10805", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247798"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenomas, multiple colorectal, autosomal recessive" EXACT [OMIM:608456]
synonym: "autosomal recessive familial adenomatous polyposis" RELATED [GARD:0010805]
synonym: "autosomal recessive multiple colorectal adenomas" RELATED [GARD:0010805]
synonym: "colorectal adenomatous polyposis, autosomal recessive" EXACT [OMIM:608456]
synonym: "familial adenomatous polyposis 2" EXACT [OMIM:608456]
synonym: "familial adenomatous polyposis, 2" EXACT [MONDO:Lexical, OMIM:608456]
synonym: "familial adenomatous polyposis, type 2" EXACT [MONDORULE:1, OMIM:608456]
synonym: "FAP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608456]
synonym: "MAP" EXACT ABBREVIATION [NCIT:C96520]
synonym: "MAP syndrome" RELATED [GARD:0010805]
synonym: "MUTYH-associated polyposis" EXACT [NCIT:C96520]
synonym: "MUTYH-related AFAP" EXACT [Orphanet:247798]
synonym: "MUTYH-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [Orphanet:247798]
synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [Orphanet:247798]
synonym: "MUTYH-related attenuated FAP" EXACT [Orphanet:247798]
synonym: "MYH-associated polyposis" RELATED [GARD:0010805]
xref: DOID:0080410 {source="MONDO:equivalentTo"}
xref: GARD:10805 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:247798", source="Orphanet:247798/attributed", source="Orphanet:247798/ntbt"}
xref: MEDGEN:474474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563924 {source="MONDO:equivalentTo"}
xref: NCIT:C96520 {source="MONDO:equivalentTo"}
xref: OMIM:608456 {source="Orphanet:247798", source="MONDO:equivalentTo", source="Orphanet:247798/e"}
xref: Orphanet:220460 {source="OMIM:608456"}
xref: Orphanet:247798 {source="MONDO:equivalentTo", source="OMIM:608456"}
xref: UMLS:C3272841 {source="MEDGEN:474474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0016362 {source="Orphanet:247798"} ! attenuated familial adenomatous polyposis
is_a: MONDO:0021055 {source="OMIM:608456"} ! classic familial adenomatous polyposis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:608456", source="Orphanet:247798"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7527 {source="MONDO:mim2gene_medgen"} ! MUTYH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5374" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis" xsd:anyURI {source="GARD:0010805"}

[Term]
id: MONDO:0012042
name: Hirschsprung disease, susceptibility to, 8
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:608462]
synonym: "HSCR8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608462]
xref: MEDGEN:409841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608462 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:608462"}
xref: UMLS:C1969482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409841"}
is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012043
name: Reis-Bucklers corneal dystrophy
def: "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." [Orphanet:98961]
subset: gard_rare {source="GARD:9276", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98961"}
subset: orphanet_rare {source="Orphanet:98961"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior limiting membrane dystrophy type 1" EXACT [Orphanet:98961]
synonym: "anterior limiting membrane dystrophy type I" EXACT [DOID:0060453, Orphanet:98961]
synonym: "atypical granular corneal dystrophy" EXACT [Orphanet:98961]
synonym: "CDB1" RELATED ABBREVIATION [GARD:0009276]
synonym: "CDRB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608470]
synonym: "corneal dystrophy geographic" RELATED [GARD:0009276]
synonym: "corneal dystrophy of Bowman layer type 1" EXACT [Orphanet:98961]
synonym: "corneal dystrophy of Bowman layer type I" EXACT [DOID:0060453, Orphanet:98961]
synonym: "corneal dystrophy of Bowman Layer, type 1" RELATED [OMIM:608470]
synonym: "corneal dystrophy Reis Bucklers type" RELATED [GARD:0009276]
synonym: "corneal dystrophy, geographic" RELATED [OMIM:608470]
synonym: "corneal dystrophy, REIS-Bucklers type" RELATED [MONDO:Lexical, OMIM:608470]
synonym: "geographic corneal dystrophy" EXACT [DOID:0060453, Orphanet:98961]
synonym: "granular corneal dystrophy type 3" EXACT [Orphanet:98961]
synonym: "granular corneal dystrophy type III" EXACT [DOID:0060453, Orphanet:98961]
synonym: "granular corneal dystrophy, type 3" RELATED [OMIM:608470]
synonym: "RBCD" EXACT ABBREVIATION [DOID:0060453, Orphanet:98961]
synonym: "Reis Bucklers corneal dystrophy" RELATED [GARD:0009276]
synonym: "Reis Bucklers dystrophy" RELATED [GARD:0009276]
synonym: "Reis-Bucklers corneal dystrophy" EXACT [OMIM:608470]
synonym: "Reis-Bücklers corneal dystrophy" RELATED [Orphanet:98961]
synonym: "superficial granular corneal dystrophy" EXACT [Orphanet:98961]
xref: DOID:0060453 {source="MONDO:equivalentTo"}
xref: GARD:9276 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98961", source="Orphanet:98961/attributed", source="Orphanet:98961/ntbt"}
xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535476 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="Orphanet:98961/e"}
xref: OMIM:608470 {source="Orphanet:98961", source="DOID:0060453", source="MONDO:equivalentTo", source="Orphanet:98961/e"}
xref: Orphanet:98961 {source="DOID:0060453", source="MONDO:equivalentTo", source="OMIM:608470"}
xref: SCTID:231930000 {source="DOID:0060453", source="MONDO:equivalentTo"}
xref: UMLS:C0339278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83284"}
is_a: MONDO:0000764 {source="DOID:0060453"} ! epithelial-stromal TGFBI dystrophy
is_a: MONDO:0020212 {source="Orphanet:98961"} ! superficial corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI

[Term]
id: MONDO:0012044
name: corneal dystrophy, lattice type 3A
def: "Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically." [GARD:0010320]
subset: gard_rare {source="GARD:10320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDL3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608471]
synonym: "corneal dystrophy, lattice type IIIA" RELATED [MONDO:Lexical, OMIM:608471]
synonym: "lattice corneal dystrophy type 3A" RELATED [GARD:0010320]
synonym: "lattice corneal dystrophy type III A" RELATED [GARD:0010320]
synonym: "lattice corneal dystrophy, type 3A" RELATED [OMIM:608471]
xref: GARD:10320 {source="MONDO:GARD"}
xref: MEDGEN:332989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563923 {source="MONDO:equivalentTo"}
xref: OMIM:608471 {source="GARD:0010320", source="MONDO:equivalentTo"}
xref: Orphanet:98964 {source="OMIM:608471"}
xref: UMLS:C1837974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332989"}
is_a: MONDO:0004686 ! lattice corneal dystrophy
relationship: excluded_subClassOf MONDO:0007380 {source="Orphanet:98964/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! lattice corneal dystrophy type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11771 {source="MONDO:mim2gene_medgen"} ! TGFBI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a" xsd:anyURI {source="GARD:0010320"}

[Term]
id: MONDO:0012045
name: myopia 5, autosomal dominant
synonym: "myopia 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:608474]
synonym: "MYP5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608474]
xref: MEDGEN:324913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563922 {source="MONDO:equivalentTo"}
xref: OMIM:608474 {source="MONDO:equivalentTo"}
xref: UMLS:C1837972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324913"}
is_a: MONDO:0001384 {source="DC-OMIM:608474", source="MESH:C563922", source="OMIM:608474"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012046
name: congenital corneal opacities, cornea guttata, and corectopia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital corneal opacities, cornea guttata, and corectopia" EXACT [OMIM:608484]
synonym: "corneal opacities, congenital, with cornea guttata and corectopia" RELATED [OMIM:608484]
xref: MEDGEN:324911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563921 {source="MONDO:equivalentTo"}
xref: OMIM:608484 {source="MONDO:equivalentTo"}
xref: UMLS:C1837970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324911"}
is_a: MONDO:0003847 {source="MESH:C563921/inferred"} ! hereditary disease
is_a: MONDO:0005349 ! otosclerosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012047
name: alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia
synonym: "alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia" RELATED [OMIM:608509]
xref: MEDGEN:373853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563920 {source="MONDO:equivalentTo"}
xref: OMIM:608509 {source="MONDO:equivalentTo"}
xref: UMLS:C1837946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373853"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012048
name: endogenous depression
def: "Depression which is considered strictly biological." [NCIT:P378]
synonym: "clinical depression" RELATED [DOID:1595]
synonym: "major depressive disorder" RELATED [MONDO:Lexical, OMIM:608516]
synonym: "MDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608516]
synonym: "unipolar depression" RELATED [DOID:1595, OMIM:608516]
xref: DOID:1595 {source="MONDO:equivalentTo"}
xref: MEDGEN:3763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003866 {source="DOID:1595"}
xref: NCIT:C34532 {source="DOID:1595", source="MONDO:equivalentTo"}
xref: NCIT:C35094 {source="DOID:1595", source="MONDO:directSiblingOf"}
xref: SCTID:154873003 {source="DOID:1595"}
xref: SCTID:191599006 {source="DOID:1595"}
xref: SCTID:231498003 {source="DOID:1595"}
xref: SCTID:300706003 {source="DOID:1595", source="MONDO:equivalentTo"}
xref: UMLS:C0011573 {source="MONDO:equivalentTo", source="MEDGEN:3763", source="MONDO:MEDGEN"}
is_a: MONDO:0002009 {source="DC-OMIM:608516", source="DOID:1595"} ! major depressive disorder
is_a: MONDO:0002050 {source="DOID:1595/inferred", source="NCIT:C34532"} ! depressive disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0012049
name: orofaciodigital syndrome VII
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OFD7" EXACT ABBREVIATION [DOID:0060377, MONDO:Lexical, OMIM:608518]
synonym: "Ofds 7" RELATED [OMIM:608518]
synonym: "oral-Facial-digital syndrome, type 7" RELATED [OMIM:608518]
synonym: "orofaciodigital syndrome 7" RELATED [OMIM:608518]
synonym: "orofaciodigital syndrome type 7" EXACT [MONDORULE:1, OMIM:608518]
synonym: "orofaciodigital syndrome type VII" EXACT [DOID:0060377, MONDORULE:3]
synonym: "orofaciodigital syndrome VII" EXACT [MONDO:Lexical, OMIM:608518]
synonym: "Whelan syndrome" EXACT [DOID:0060377, OMIM:608518]
xref: DOID:0060377 {source="MONDO:equivalentTo"}
xref: MEDGEN:162907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563104 {source="DOID:0060377", source="MONDO:equivalentTo"}
xref: OMIM:608518 {source="DOID:0060377", source="MONDO:equivalentTo"}
xref: Orphanet:90649 {source="MONDO:equivalentObsolete", source="OMIM:608518", source="DOID:0060377"}
xref: UMLS:C0796100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162907"}
is_a: MONDO:0015375 {source="DC-OMIM:608518", source="DOID:0060377", source="MESH:C563104"} ! orofaciodigital syndrome

[Term]
id: MONDO:0012050
name: major depressive disorder 1
comment: OMIM reports one susceptibility locus for major depressive disorder (MDD1) has been mapped to chromosome 12q22-q23.2.
synonym: "major depressive disorder 1" EXACT [OMIM:608520]
synonym: "major depressive disorder type 1" EXACT [MONDORULE:1, OMIM:608520]
synonym: "MDD1" EXACT ABBREVIATION [OMIM:608520]
synonym: "unipolar depression 1" RELATED [OMIM:608520]
xref: MEDGEN:325293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563919 {source="MONDO:equivalentTo"}
xref: OMIM:608520 {source="MONDO:equivalentTo"}
xref: UMLS:C1837929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325293"}
is_a: MONDO:0020573 {source="OMIM:608520"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0002009 {source="https://orcid.org/0000-0001-5208-3432"} ! major depressive disorder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0002009 {source="OMIM:608520"} ! major depressive disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5509" xsd:anyURI

[Term]
id: MONDO:0012051
name: periodontitis, aggressive, 2
synonym: "periodontitis, aggressive, 2" EXACT [OMIM:608526]
synonym: "periodontitis, aggressive, type 2" EXACT [MONDORULE:1, OMIM:608526]
xref: MEDGEN:370671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566946 {source="MONDO:equivalentTo"}
xref: OMIM:608526 {source="MONDO:equivalentTo"}
xref: UMLS:C1969478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370671"}
is_a: MONDO:0005593 {source="OMIM:608526"} ! chronic periodontitis

[Term]
id: MONDO:0012052
name: ALG1-congenital disorder of glycosylation
def: "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." [Orphanet:79327]
subset: gard_rare {source="GARD:9838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79327"}
subset: orphanet_rare {source="Orphanet:79327"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG1-CDG" EXACT ABBREVIATION [Orphanet:79327]
synonym: "ALG1-CDG (CDG-Ik)" RELATED [GARD:0009838]
synonym: "ALG1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "carbohydrate deficient glycoprotein syndrome type Ik" EXACT [Orphanet:79327]
synonym: "CDG 1K" RELATED [GARD:0009838]
synonym: "CDG Ik" RELATED [OMIM:608540]
synonym: "CDG syndrome type Ik" EXACT [Orphanet:79327]
synonym: "CDG-Ik" EXACT [Orphanet:79327]
synonym: "CDG1K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608540, Orphanet:79327]
synonym: "congenital disorder of glycosylation type 1k" EXACT [Orphanet:79327]
synonym: "congenital disorder of glycosylation type Ik" EXACT [Orphanet:79327]
synonym: "congenital disorder of glycosylation, type Ik" RELATED [MONDO:Lexical, OMIM:608540]
synonym: "mannosyltransferase 1 deficiency" EXACT [Orphanet:79327]
xref: DOID:0080563 {source="MONDO:equivalentTo"}
xref: GARD:9838 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79327/attributed", source="Orphanet:79327/ntbt", source="Orphanet:79327"}
xref: MEDGEN:419308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535749 {source="MONDO:equivalentTo"}
xref: OMIM:608540 {source="Orphanet:79327", source="MONDO:equivalentTo", source="Orphanet:79327/e"}
xref: Orphanet:79327 {source="MONDO:equivalentTo", source="OMIM:608540"}
xref: SCTID:720941007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931005 {source="MEDGEN:419308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005500 {source="DC-OMIM:608540"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535749", source="MONDO:0012052/inferred", source="MONDO:Redundant", source="OMIM:608540", source="Orphanet:79327/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79327"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18294 {source="MONDO:mim2gene_medgen"} ! ALG1

[Term]
id: MONDO:0012053
name: aneurysm, intracranial berry, 2
subset: gard_rare {source="GARD:10033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 2" RELATED [MONDO:Lexical, OMIM:608542]
synonym: "ANIB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608542]
xref: DOID:0080965 {source="MONDO:equivalentTo"}
xref: GARD:10033 {source="MONDO:GARD"}
xref: MEDGEN:325285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536360 {source="MONDO:equivalentTo"}
xref: OMIM:608542 {source="MONDO:equivalentTo"}
xref: Orphanet:231160 {source="OMIM:608542"}
xref: UMLS:C1837894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325285"}
is_a: MONDO:0016483 {source="DC-OMIM:608542", source="OMIM:608542"} ! intracranial berry aneurysm

[Term]
id: MONDO:0012054
name: schizophrenia 12
def: "A schizophrenia that has material basis in a mutation on chromosome 1p36.2." [DOID:0070088]
synonym: "schizophrenia 12" EXACT [OMIM:608543]
synonym: "schizophrenia susceptibility locus, chromosome 1P-related" RELATED [OMIM:608543]
synonym: "schizophrenia type 12" EXACT [MONDORULE:2, OMIM:608543]
synonym: "SCZD12" EXACT ABBREVIATION [DOID:0070088]
synonym: "Sczd12" RELATED [OMIM:608543]
xref: DOID:0070088 {source="MONDO:equivalentTo"}
xref: MEDGEN:373838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608543 {source="DOID:0070088", source="MONDO:equivalentTo"}
xref: UMLS:C1837893 {source="MEDGEN:373838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005090 {source="DC-OMIM:608543", source="DOID:0070088"} ! schizophrenia

[Term]
id: MONDO:0012055
name: Larsen-like osseous dysplasia-short stature syndrome
def: "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." [Orphanet:2370]
subset: gard_rare {source="GARD:16595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2370"}
subset: ordo_malformation_syndrome {source="Orphanet:2370"}
subset: orphanet_rare {source="Orphanet:2370"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Larsen-like syndrome" RELATED [OMIM:608545]
synonym: "Larsen-like syndrome, isolated cases" EXACT [OMIM:608545, OMIM:genemap2]
synonym: "Lrsl" RELATED [OMIM:608545]
xref: GARD:16595 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:2370/attributed", source="Orphanet:2370/ntbt", source="Orphanet:2370"}
xref: MEDGEN:325280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563914 {source="MONDO:equivalentTo"}
xref: OMIM:608545 {source="Orphanet:2370/e", source="MONDO:equivalentTo", source="Orphanet:2370"}
xref: Orphanet:2370 {source="MONDO:equivalentTo", source="OMIM:608545"}
xref: UMLS:C1837884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325280"}
is_a: MONDO:0018230 {source="Orphanet:2370"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:2370", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012056
name: Leber congenital amaurosis 9
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 9" RELATED [GARD:0009491]
synonym: "LCA9" EXACT ABBREVIATION [DOID:0110005, MONDO:Lexical, OMIM:608553]
synonym: "Leber congenital amaurosis 9" EXACT [MONDO:Lexical, OMIM:608553]
synonym: "Leber congenital amaurosis caused by mutation in NMNAT1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 9" EXACT [DOID:0110005, MONDORULE:1, OMIM:608553]
synonym: "NMNAT1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110005 {source="MONDO:equivalentTo"}
xref: GARD:9491 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110005", source="MONDO:relatedTo"}
xref: MEDGEN:325277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536603 {source="MONDO:equivalentTo"}
xref: OMIM:608553 {source="DOID:0110005", source="MONDO:equivalentTo"}
xref: Orphanet:65 {source="OMIM:608553"}
xref: UMLS:C1837873 {source="MEDGEN:325277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:608553", source="DOID:0110005", source="MESH:C536603", source="MONDO:Redundant", source="OMIM:608553"} ! Leber congenital amaurosis
is_a: MONDO:0800101 {source="https://clinicalgenome.org/affiliation/40072/"} ! NMNAT1-related retinopathy
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17877 ! NMNAT1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17877 {source="MONDO:mim2gene_medgen"} ! NMNAT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9491/leber-congenital-amaurosis-9" xsd:anyURI {source="GARD:0009491"}

[Term]
id: MONDO:0012057
name: legionnaire disease, susceptibility to
subset: predisposition
synonym: "Legionella infection" RELATED [GARD:0006876]
synonym: "legionnaire disease, susceptibility to" EXACT [OMIM:608556]
synonym: "legionnaire's disease" RELATED [GARD:0006876]
synonym: "susceptibility to legionnaire disease" RELATED [OMIM:608556]
xref: MEDGEN:325276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608556 {source="MONDO:equivalentTo"}
xref: UMLS:C1837872 {source="MEDGEN:325276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005824 ! Legionnaires' disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11851 {source="MONDO:mim2gene_medgen"} ! TLR5

[Term]
id: MONDO:0012058
name: myocardial infarction, susceptibility to, 2
subset: predisposition
synonym: "Mci2" RELATED [OMIM:608557]
synonym: "myocardial infarction, susceptibility to, 2" EXACT [OMIM:608557]
synonym: "myocardial infarction, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608557]
xref: MEDGEN:325275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608557 {source="MONDO:equivalentTo"}
xref: UMLS:C1837871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325275"}
is_a: MONDO:0020573 {source="OMIM:608557", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005068 {source="DC-OMIM:608557", source="https://orcid.org/0000-0001-5208-3432"} ! myocardial infarction
relationship: predisposes_towards MONDO:0005068 {source="OMIM:608557"} ! myocardial infarction
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012059
name: polydactyly, postaxial, type A4
subset: gard_rare {source="GARD:18175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Papa4" RELATED [OMIM:608562]
synonym: "polydactyly, postaxial, type A4" EXACT [OMIM:608562]
synonym: "postaxial polydactyly, type A4" RELATED [OMIM:608562]
xref: GARD:18175 {source="MONDO:GARD"}
xref: MEDGEN:325272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563909 {source="MONDO:equivalentTo"}
xref: OMIM:608562 {source="MONDO:equivalentTo"}
xref: Orphanet:93334 {source="OMIM:608562"}
xref: UMLS:C1837868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325272"}
is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A

[Term]
id: MONDO:0012060
name: autosomal recessive nonsyndromic hearing loss 35
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 35" NARROW [DOID:0110493]
synonym: "autosomal recessive nonsyndromic deafness 35" NARROW [OMIM:608565]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 35" NARROW [DOID:0110493, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 35" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 35" NARROW [MONDO:Lexical, OMIM:608565, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 35" NARROW [MONDORULE:2, OMIM:608565]
synonym: "DFNB35" NARROW ABBREVIATION [DOID:0110493, MONDO:Lexical, OMIM:608565]
synonym: "ESRRB autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110493 {source="MONDO:equivalentTo"}
xref: GARD:22609 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110493"}
xref: MEDGEN:324897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563908 {source="MONDO:equivalentTo"}
xref: OMIM:608565 {source="MONDO:equivalentTo", source="DOID:0110493"}
xref: UMLS:C1837857 {source="MONDO:equivalentTo", source="MEDGEN:324897", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:608565", source="DOID:0110493", source="MONDO:Redundant", source="OMIM:608565"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3473 ! ESRRB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3473 {source="MONDO:mim2gene_medgen"} ! ESRRB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012061
name: familial sick sinus syndrome
def: "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." [Orphanet:166282]
subset: gard_rare {source="GARD:13663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166282"}
subset: orphanet_rare {source="Orphanet:166282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial sinus node dysfunction" EXACT [Orphanet:166282]
synonym: "hereditary sick sinus syndrome" EXACT [MONDO:patterns/hereditary]
synonym: "sick sinus syndrome 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608567]
synonym: "SSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608567]
xref: GARD:13663 {source="MONDO:GARD"}
xref: ICD10CM:I49.5 {source="Orphanet:166282/attributed", source="Orphanet:166282/ntbt", source="Orphanet:166282"}
xref: MedDRA:10040639 {source="Orphanet:166282/e", source="Orphanet:166282"}
xref: MEDGEN:573766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563907 {source="MONDO:equivalentTo"}
xref: MESH:D012804 {source="Orphanet:166282/e", source="Orphanet:166282"}
xref: OMIMPS:608567 {source="MONDO:equivalentTo"}
xref: Orphanet:166282 {source="MONDO:equivalentTo", source="OMIM:608567"}
xref: SCTID:233913007 {source="MONDO:equivalentTo"}
xref: UMLS:C0340491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573766"}
is_a: MONDO:0001823 {source="DC-OMIM:608567", source="MESH:C563907", source="MONDO:Redundant", source="OMIM:608567"} ! sick sinus syndrome
intersection_of: MONDO:0001823 ! sick sinus syndrome
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608567"} ! inherited

[Term]
id: MONDO:0012062
name: dilated cardiomyopathy 1O
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15434", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ABCC9 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1O" RELATED [MONDO:Lexical, OMIM:608569]
synonym: "cardiomyopathy, dilated, type 1O" EXACT [MONDORULE:4, OMIM:608569]
synonym: "cardiomyopathy, dilated, with ventricular tachycardia" RELATED [OMIM:608569]
synonym: "CMD1O" EXACT ABBREVIATION [DOID:0110451, MONDO:Lexical, OMIM:608569]
synonym: "dilated cardiomyopathy type 1O" EXACT [DOID:0110451, MONDORULE:4]
synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT [DOID:0110451]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in ABCC9" EXACT [MONDO:design_pattern]
xref: DOID:0110451 {source="MONDO:equivalentTo"}
xref: GARD:15434 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110451"}
xref: MEDGEN:325268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563906 {source="MONDO:equivalentTo"}
xref: OMIM:608569 {source="MONDO:equivalentTo", source="DOID:0110451"}
xref: UMLS:C1837839 {source="MEDGEN:325268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:608569"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/60 {source="MONDO:mim2gene_medgen"} ! ABCC9

[Term]
id: MONDO:0012063
name: ulnar/fibula ray defect-brachydactyly syndrome
def: "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." [Orphanet:52056]
subset: gard_rare {source="GARD:16654", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:52056"}
subset: ordo_malformation_syndrome {source="Orphanet:52056"}
subset: orphanet_rare {source="Orphanet:52056"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Morava-Mehes syndrome" EXACT [Orphanet:52056]
synonym: "ulnar/fibular RAY defect and brachydactyly" RELATED [OMIM:608571]
xref: GARD:16654 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:52056", source="Orphanet:52056/attributed", source="Orphanet:52056/ntbt"}
xref: MEDGEN:324890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563905 {source="MONDO:equivalentTo"}
xref: OMIM:608571 {source="Orphanet:52056", source="MONDO:equivalentTo", source="Orphanet:52056/e"}
xref: Orphanet:52056 {source="MONDO:equivalentTo", source="OMIM:608571"}
xref: SCTID:719843001 {source="MONDO:equivalentTo"}
xref: UMLS:C1837830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324890"}
is_a: MONDO:0019054 {source="Orphanet:52056", source="Orphanet:52056/inferred"} ! congenital limb malformation

[Term]
id: MONDO:0012064
name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
def: "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." [Orphanet:1200]
subset: gard_rare {source="GARD:10041", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1200"}
subset: ordo_malformation_syndrome {source="Orphanet:1200"}
subset: orphanet_rare {source="Orphanet:1200"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" RELATED [GARD:0010041]
synonym: "BMKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608572]
synonym: "Burn-McKeown syndrome" EXACT [MONDO:Lexical, OMIM:608572, Orphanet:1200]
synonym: "choanal atresia deafness cardiac defects dysmorphism" RELATED [GARD:0010041]
synonym: "oculootofacial dysplasia" EXACT [OMIM:608572]
xref: DOID:0080695 {source="MONDO:equivalentTo"}
xref: GARD:10041 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1200", source="Orphanet:1200/attributed", source="Orphanet:1200/ntbt"}
xref: MEDGEN:325265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537411 {source="Orphanet:1200", source="Orphanet:1200/e"}
xref: MESH:C563682 {source="MONDO:equivalentTo"}
xref: OMIM:608572 {source="Orphanet:1200", source="MONDO:equivalentTo", source="Orphanet:1200/e"}
xref: Orphanet:1200 {source="MONDO:equivalentTo", source="OMIM:608572"}
xref: UMLS:C1837822 {source="MEDGEN:325265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:1200"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30551 {source="MONDO:mim2gene_medgen"} ! TXNL4A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome" xsd:anyURI {source="GARD:0010041"}

[Term]
id: MONDO:0012065
name: obsolete Stevens-Johnson syndrome
is_obsolete: true
replaced_by: MONDO:0018229

[Term]
id: MONDO:0012066
name: atrial fibrillation, familial, 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ATFB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608583]
synonym: "atrial fibrillation, autosomal dominant" BROAD [OMIM:608583]
synonym: "atrial fibrillation, familial, 1" EXACT [MONDO:Lexical, OMIM:608583]
xref: MEDGEN:334469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538261 {source="MONDO:equivalentTo"}
xref: OMIM:608583 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:608583"}
xref: UMLS:C1843687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334469"}
is_a: MONDO:0018054 {source="DC-OMIM:608583", source="OMIM:608583"} ! familial atrial fibrillation

[Term]
id: MONDO:0012067
name: asthma-related traits, susceptibility to, 2
def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ASRT2" RELATED ABBREVIATION [OMIM:608584]
synonym: "asthma, susceptibility to, 2" EXACT [OMIM:608584, OMIM:genemap2]
synonym: "asthma-related traits, susceptibility to, 2" EXACT [OMIM:608584]
synonym: "asthma-related traits, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608584]
synonym: "inherited susceptibility to asthma caused by mutation in NPSR1" EXACT [MONDO:design_pattern]
synonym: "NPSR1 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:324885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608584 {source="MONDO:equivalentTo"}
xref: UMLS:C1837811 {source="MEDGEN:324885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010940 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma
intersection_of: MONDO:0010940 ! inherited susceptibility to asthma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23631 ! NPSR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23631 {source="MONDO:mim2gene_medgen"} ! NPSR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012068
name: brachial palsy, familial congenital
synonym: "brachial palsy, familial congenital" EXACT [OMIM:608585]
xref: MEDGEN:324884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563901 {source="MONDO:equivalentTo"}
xref: OMIM:608585 {source="MONDO:equivalentTo"}
xref: UMLS:C1837810 {source="MEDGEN:324884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012069
name: keratoconus 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus 3" EXACT [MONDO:Lexical, OMIM:608586]
synonym: "KTCN3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608586]
xref: MEDGEN:324883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563900 {source="MONDO:equivalentTo"}
xref: OMIM:608586 {source="MONDO:equivalentTo"}
xref: Orphanet:2335 {source="OMIM:608586"}
xref: UMLS:C1837809 {source="MEDGEN:324883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015486 {source="DC-OMIM:608586", source="MESH:C563900", source="OMIM:608586"} ! keratoconus

[Term]
id: MONDO:0012070
name: obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G
comment: OMIM merged these
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1701" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013753

[Term]
id: MONDO:0012071
name: congenital generalized lipodystrophy type 1
def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:84", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGPAT2 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 []
synonym: "AGPAT2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "AGPAT2-related Brunzell syndrome" RELATED [GARD:0000084]
synonym: "Berardinelli-Seip congenital lipodystrophy type 1" RELATED [GARD:0000084]
synonym: "Berardinelli-Seip congenital lipodystrophy, type 1" EXACT [DOID:0111135]
synonym: "Brunzell syndrome AGPAT2-related" EXACT [DOID:0111135]
synonym: "Brunzell syndrome, AGPAT2-related" RELATED [OMIM:608594]
synonym: "BSCL1" EXACT ABBREVIATION [DOID:0111135, GARD:0000084]
synonym: "CGL1" EXACT ABBREVIATION [DOID:0111135, MONDO:Lexical, OMIM:608594]
synonym: "congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2" EXACT OMO:0003005 []
synonym: "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2" EXACT []
synonym: "congenital generalized lipodystrophy type 1" EXACT CLINGEN_LABEL []
synonym: "lipodystrophy, Berardinelli-Seip congenital, type 1" RELATED [OMIM:608594]
synonym: "lipodystrophy, congenital generalized, type 1" RELATED [MONDO:Lexical, OMIM:608594]
xref: DOID:0111135 {source="MONDO:equivalentTo"}
xref: GARD:84 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="DOID:0111135"}
xref: MEDGEN:318592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608594 {source="MONDO:equivalentTo", source="DOID:0111135", source="GARD:0000084"}
xref: Orphanet:528 {source="OMIM:608594"}
xref: UMLS:C1720862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318592"}
is_a: MONDO:0006536 {source="DC-OMIM:608594", source="DOID:0111135", source="MONDO:Redundant", source="OMIM:608594"} ! congenital generalized lipodystrophy
is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy
intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/325 ! AGPAT2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/325 {source="MONDO:mim2gene_medgen"} ! AGPAT2

[Term]
id: MONDO:0012072
name: familial partial lipodystrophy, Kobberling type
def: "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant." [Orphanet:79084]
subset: gard_rare {source="GARD:12598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79084"}
subset: orphanet_rare {source="Orphanet:79084"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial partial lipodystrophy type 1" EXACT [Orphanet:79084]
synonym: "familial partial lipodystrophy type Köbberling" RELATED [GARD:0012598]
synonym: "familial partial lipodystrophy, Köbberling type" RELATED [Orphanet:79084]
synonym: "FPLD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608600, Orphanet:79084]
synonym: "lipodystrophy, familial partial, Kobberling type" RELATED [OMIM:608600]
synonym: "lipodystrophy, familial partial, type 1" RELATED [MONDO:Lexical, OMIM:608600]
xref: DOID:0070207 {source="MONDO:equivalentTo"}
xref: GARD:12598 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:79084", source="Orphanet:79084/attributed", source="Orphanet:79084/ntbt"}
xref: MEDGEN:318591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608600 {source="MONDO:equivalentTo", source="Orphanet:79084", source="Orphanet:79084/e"}
xref: Orphanet:79084 {source="MONDO:equivalentTo", source="OMIM:608600"}
xref: SCTID:725035001 {source="MONDO:equivalentTo"}
xref: UMLS:C1720859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318591"}
is_a: MONDO:0020088 {source="DC-OMIM:608600", source="OMIM:608600", source="Orphanet:79084"} ! familial partial lipodystrophy

[Term]
id: MONDO:0012073
name: ribose-5-P isomerase deficiency
def: "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy." [Orphanet:440706]
subset: gard_rare {source="GARD:17747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440706"}
subset: orphanet_rare {source="Orphanet:440706"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ribose 5-phosphate isomerase deficiency" RELATED [OMIM:608611]
xref: GARD:17747 {source="MONDO:GARD"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563212 {source="MONDO:equivalentTo"}
xref: OMIM:608611 {source="Orphanet:440706/e", source="MONDO:equivalentTo", source="Orphanet:440706"}
xref: Orphanet:440706 {source="MONDO:equivalentTo"}
xref: SCTID:124667004 {source="MONDO:equivalentTo"}
xref: UMLS:C1291609 {source="MEDGEN:220946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="Orphanet:440706"} ! leukodystrophy
is_a: MONDO:0019231 {source="Orphanet:440706", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10297 {source="MONDO:mim2gene_medgen"} ! RPIA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0012074
name: mandibuloacral dysplasia with type B lipodystrophy
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9989", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90154"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lipodystrophy, type B, associated with Mandibuloacral dysplasia" RELATED [OMIM:608612]
synonym: "MADB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608612]
synonym: "MANDIBULOACRAL dysplasia with type B lipodystrophy" RELATED [OMIM:608612]
synonym: "mandibuloacral dysplasia with type B lipodystrophy" EXACT [MONDO:Lexical, OMIM:608612]
xref: DOID:0081129 {source="MONDO:equivalentTo"}
xref: GARD:9989 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:90154/attributed", source="Orphanet:90154/ntbt", source="Orphanet:90154"}
xref: MEDGEN:332940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535706 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"}
xref: OMIM:608612 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"}
xref: Orphanet:2457 {source="OMIM:608612"}
xref: Orphanet:90154 {source="OMIM:608612", source="MONDO:equivalentTo"}
xref: UMLS:C1837756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332940"}
is_a: MONDO:0016584 {source="DC-OMIM:608612", source="OMIM:608612", source="Orphanet:90154"} ! mandibuloacral dysplasia
is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12877 {source="MONDO:mim2gene_medgen"} ! ZMPSTE24
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy" xsd:anyURI {source="GARD:0009989"}

[Term]
id: MONDO:0012075
name: oligodontia-cancer predisposition syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300576"}
subset: orphanet_rare {source="Orphanet:300576"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant ectodermal dysplasia-cancer predisposition syndrome" EXACT [Orphanet:300576]
synonym: "ODCRCS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608615]
synonym: "oligodontia-cancer predisposition syndrome" EXACT CLINGEN_LABEL []
synonym: "oligodontia-colorectal cancer syndrome" EXACT [MESH:C563898, MONDO:Lexical, OMIM:608615]
synonym: "tooth agenesis-colorectal cancer syndrome" EXACT [OMIM:608615]
xref: GARD:17376 {source="MONDO:GARD"}
xref: MEDGEN:324868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563898 {source="MONDO:equivalentTo"}
xref: OMIM:608615 {source="Orphanet:300576", source="MONDO:equivalentTo", source="Orphanet:300576/e"}
xref: Orphanet:300576 {source="OMIM:608615", source="MONDO:equivalentTo"}
xref: UMLS:C1837750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324868"}
is_a: MONDO:0003847 {source="OMIM:608615"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/904 {source="MONDO:mim2gene_medgen"} ! AXIN2

[Term]
id: MONDO:0012076
name: midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
synonym: "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia" EXACT [OMIM:608624]
xref: MEDGEN:325238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563896 {source="MONDO:equivalentTo"}
xref: OMIM:608624 {source="MONDO:equivalentTo"}
xref: UMLS:C1837730 {source="MONDO:equivalentTo", source="MEDGEN:325238", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012077
name: amyotrophic lateral sclerosis type 8
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10499", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS8" EXACT ABBREVIATION [DOID:0050752, MONDO:Lexical, OMIM:608627]
synonym: "amyotrophic lateral sclerosis 8" EXACT [DOID:0050752, MONDO:Lexical, OMIM:608627]
synonym: "amyotrophic lateral sclerosis caused by mutation in VAPB" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 8" EXACT [MONDORULE:1, OMIM:608627]
synonym: "VAPB amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0050752 {source="MONDO:equivalentTo"}
xref: GARD:10499 {source="MONDO:GARD"}
xref: MEDGEN:325237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563895 {source="MONDO:equivalentTo"}
xref: OMIM:608627 {source="DOID:0050752", source="MONDO:equivalentTo"}
xref: Orphanet:803 {source="OMIM:608627"}
xref: UMLS:C1837728 {source="MEDGEN:325237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DC-OMIM:608627", source="DOID:0050752", source="MESH:C563895", source="MONDO:Redundant", source="OMIM:608627"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12649 ! VAPB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12649 {source="MONDO:mim2gene_medgen"} ! VAPB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10499/amyotrophic-lateral-sclerosis-type-8" xsd:anyURI {source="GARD:0010499"}

[Term]
id: MONDO:0012078
name: Joubert syndrome 3
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AHI1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS3" EXACT ABBREVIATION [DOID:0110998, MONDO:Lexical, OMIM:608629]
synonym: "Joubert syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608629]
synonym: "Joubert syndrome caused by mutation in AHI1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 3" EXACT [DOID:0110998, MONDORULE:1, OMIM:608629]
xref: DOID:0110998 {source="MONDO:equivalentTo"}
xref: GARD:15435 {source="MONDO:GARD"}
xref: MEDGEN:332931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536295 {source="MONDO:equivalentTo"}
xref: NCIT:C148259 {source="MONDO:equivalentTo"}
xref: OMIM:608629 {source="DOID:0110998", source="MONDO:equivalentTo"}
xref: Orphanet:220493 {source="OMIM:608629"}
xref: UMLS:C1837713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332931"}
is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DC-OMIM:608629", source="DOID:0110998", source="MONDO:Redundant", source="NCIT:C148259", source="OMIM:608629"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21575 ! AHI1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21575 {source="MONDO:mim2gene_medgen"} ! AHI1

[Term]
id: MONDO:0012079
name: asperger syndrome, susceptibility to, 2
subset: predisposition
synonym: "Asperger syndrome susceptibility 2, Isolated cases" EXACT [OMIM:608631, OMIM:genemap2]
synonym: "ASPERGER syndrome, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:608631]
synonym: "ASPG2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608631]
xref: MEDGEN:332517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608631 {source="MONDO:equivalentTo"}
xref: Orphanet:1162 {source="OMIM:608631"}
xref: UMLS:C1837697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332517"}
is_a: MONDO:0100440 {source="OMIM:608631"} ! Asperger syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005259 {source="OMIM:608631", source="https://orcid.org/0000-0001-5208-3432"} ! Asperger syndrome
relationship: predisposes_towards MONDO:0005259 {source="OMIM:608631"} ! Asperger syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012080
name: neuronopathy, distal hereditary motor, type 2B
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HMN 2B" RELATED [OMIM:608634]
synonym: "HMN2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608634]
synonym: "HSPB1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB1" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type IIB" RELATED [MONDO:Lexical, OMIM:608634]
synonym: "neuropathy, distal hereditary motor, type 2B" RELATED [OMIM:608634]
xref: DOID:0111207 {source="MONDO:equivalentTo"}
xref: GARD:18263 {source="MONDO:GARD"}
xref: MEDGEN:382017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567084 {source="MONDO:equivalentTo"}
xref: OMIM:608634 {source="MONDO:equivalentTo"}
xref: Orphanet:139525 {source="OMIM:608634"}
xref: UMLS:C2608087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382017"}
is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2
is_a: MONDO:0018894 {source="DC-OMIM:608634", source="MONDO:Redundant"} ! distal hereditary motor neuropathy
intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5246 ! HSPB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5246 {source="MONDO:mim2gene_medgen"} ! HSPB1

[Term]
id: MONDO:0012081
name: 15q11q13 microduplication syndrome
def: "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." [Orphanet:238446]
subset: gard_rare {source="GARD:17172", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238446"}
subset: ordo_malformation_syndrome {source="Orphanet:238446"}
subset: orphanet_rare {source="Orphanet:238446"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "15q11-q13 duplication syndrome" EXACT [Orphanet:238446]
synonym: "15q11-q13 microduplication syndrome" EXACT [Orphanet:238446]
synonym: "15q11q13 duplication syndrome" EXACT [Orphanet:238446]
synonym: "autism susceptibility 4" EXACT [OMIM:608636, OMIM:genemap2]
synonym: "autism, susceptibility to, 4" RELATED [OMIM:608636]
synonym: "chromosome 15q11-q13 DUPLICATION syndrome" RELATED [OMIM:608636]
synonym: "chromosome 15Q11.2 Duplication syndrome" RELATED [OMIM:608636]
synonym: "dup(15)(q11q13)" EXACT [Orphanet:238446]
synonym: "Duplication 15Q11-q13 syndrome" RELATED [OMIM:608636]
synonym: "trisomy 15q11-q13" EXACT [Orphanet:238446]
synonym: "trisomy 15q11q13" EXACT [Orphanet:238446]
xref: GARD:17172 {source="MONDO:GARD"}
xref: MEDGEN:390767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126692 {source="MONDO:equivalentTo"}
xref: OMIM:608636 {source="Orphanet:238446", source="MONDO:equivalentTo", source="Orphanet:238446/e"}
xref: Orphanet:106 {source="OMIM:608636"}
xref: Orphanet:238446 {source="OMIM:608636", source="MONDO:equivalentTo"}
xref: SCTID:719427001 {source="MONDO:equivalentTo"}
xref: UMLS:C2675336 {source="MEDGEN:390767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DC-OMIM:608636", source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016965 {source="Orphanet:238446"} ! partial duplication of the long arm of chromosome 15
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr15q11-q13 ! 15q11-q13 (Human)
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C126692", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: predisposes_towards MONDO:0005260 {source="DC-OMIM:608636", source="OMIM:608636"} ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012082
name: asperger syndrome, susceptibility to, 1
subset: predisposition
synonym: "Asperger syndrome susceptibility 1, Isolated cases" EXACT [OMIM:608638, OMIM:genemap2]
synonym: "ASPERGER syndrome, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:608638]
synonym: "ASPG1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608638]
xref: MEDGEN:325218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608638 {source="MONDO:equivalentTo"}
xref: Orphanet:1162 {source="OMIM:608638"}
xref: UMLS:C1837646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325218"}
is_a: MONDO:0100440 {source="OMIM:608638"} ! Asperger syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005259 {source="OMIM:608638", source="https://orcid.org/0000-0001-5208-3432"} ! Asperger syndrome
relationship: predisposes_towards MONDO:0005259 {source="OMIM:608638"} ! Asperger syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012083
name: autosomal dominant nonsyndromic hearing loss 28
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 28" NARROW [DOID:0110557]
synonym: "autosomal dominant nonsyndromic deafness 28" NARROW [OMIM:608641]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GRHL2" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 28" NARROW [DOID:0110557, MONDORULE:2]
synonym: "deafness, autosomal dominant 28" NARROW [MONDO:Lexical, OMIM:608641, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 28" NARROW [MONDORULE:2, OMIM:608641]
synonym: "DFNA28" NARROW ABBREVIATION [DOID:0110557, MONDO:Lexical, OMIM:608641]
synonym: "GRHL2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110557 {source="MONDO:equivalentTo"}
xref: GARD:18124 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110557"}
xref: MEDGEN:324846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563890 {source="MONDO:equivalentTo"}
xref: OMIM:608641 {source="DOID:0110557", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="OMIM:608641"}
xref: UMLS:C1837640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324846"}
is_a: MONDO:0019587 {source="DC-OMIM:608641", source="DOID:0110557", source="MONDO:Redundant", source="OMIM:608641"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2799 ! GRHL2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2799 {source="MONDO:mim2gene_medgen"} ! GRHL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012084
name: aromatic L-amino acid decarboxylase deficiency
def: "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction." [Orphanet:35708]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:770", source="MONDO:GARD"}
subset: nord_rare {source="NORD:2010", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35708"}
subset: orphanet_rare {source="Orphanet:35708"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AADC deficiency" EXACT [DOID:0090123, Orphanet:35708]
synonym: "Aadc deficiency" RELATED [OMIM:608643]
synonym: "aromatic amino acid decarboxylase deficiency" RELATED [GARD:0000770]
synonym: "aromatic L-amino acid decarboxylase deficiency" EXACT [OMIM:608643]
synonym: "aromatic L-amino-acid decarboxylase deficiency" EXACT [NCIT:C142085]
synonym: "DDC deficiency" RELATED [OMIM:608643]
synonym: "Dopa decarboxylase deficiency" RELATED [OMIM:608643]
xref: DOID:0090123 {source="MONDO:equivalentTo"}
xref: GARD:770 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="DOID:0090123", source="Orphanet:35708", source="Orphanet:35708/attributed", source="Orphanet:35708/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537437 {source="MONDO:equivalentTo"}
xref: NANDO:1200988 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200596 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C142085 {source="MONDO:equivalentTo"}
xref: NORD:2010 {source="MONDO:NORD"}
xref: OMIM:608643 {source="MONDO:equivalentTo", source="DOID:0090123", source="Orphanet:35708", source="Orphanet:35708/e"}
xref: Orphanet:35708 {source="MONDO:equivalentTo", source="DOID:0090123", source="OMIM:608643"}
xref: SCTID:237922009 {source="MONDO:equivalentTo"}
xref: UMLS:C1291564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220945"}
is_a: MONDO:0017759 {source="Orphanet:35708"} ! disorder of catecholamine synthesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2719 {source="MONDO:mim2gene_medgen"} ! DDC
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency" xsd:anyURI {source="GARD:0000770"}

[Term]
id: MONDO:0012085
name: primary ciliary dyskinesia 3
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD3" EXACT ABBREVIATION [DOID:0110599, MONDO:Lexical, OMIM:608644]
synonym: "ciliary dyskinesia, primary, 3" RELATED [MONDO:Lexical, OMIM:608644]
synonym: "ciliary dyskinesia, primary, 3, with or without situs inversus" RELATED [OMIM:608644]
synonym: "ciliary dyskinesia, primary, type 3" EXACT [MONDORULE:1, OMIM:608644]
synonym: "DNAH5 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 3" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 3 with or without situs inversus" EXACT [DOID:0110599]
synonym: "primary ciliary dyskinesia caused by mutation in DNAH5" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 3" EXACT [DOID:0110599, MONDORULE:1]
xref: DOID:0110599 {source="MONDO:equivalentTo"}
xref: GARD:15436 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110599"}
xref: MEDGEN:325210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535278 {source="MONDO:equivalentTo"}
xref: NCIT:C172392 {source="MONDO:equivalentTo"}
xref: OMIM:608644 {source="DOID:0110599", source="MONDO:equivalentTo"}
xref: UMLS:C1837618 {source="MEDGEN:325210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:608644", source="DOID:0110599", source="MESH:C535278", source="MESH:C535278/inferred", source="MONDO:Redundant", source="OMIM:608644"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2950 ! DNAH5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2950 {source="MONDO:mim2gene_medgen"} ! DNAH5

[Term]
id: MONDO:0012086
name: autosomal dominant nonsyndromic hearing loss 31
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3." [DOID:0110561, PMID:11559344]
subset: gard_rare {source="GARD:18125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 31" NARROW [DOID:0110561]
synonym: "autosomal dominant nonsyndromic deafness 31" NARROW [OMIM:608645]
synonym: "autosomal dominant nonsyndromic deafness type 31" NARROW [DOID:0110561, MONDORULE:2]
synonym: "deafness, autosomal dominant 31" NARROW [MONDO:Lexical, OMIM:608645, OMIM:genemap2]
synonym: "DFNA31" NARROW ABBREVIATION [DOID:0110561, MONDO:Lexical, OMIM:608645]
xref: DOID:0110561 {source="MONDO:equivalentTo"}
xref: GARD:18125 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110561"}
xref: MEDGEN:325209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563888 {source="MONDO:equivalentTo"}
xref: OMIM:608645 {source="MONDO:equivalentTo", source="DOID:0110561"}
xref: UMLS:C1837617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325209"}
is_a: MONDO:0019587 {source="DC-OMIM:608645", source="DOID:0110561", source="OMIM:608645"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012087
name: primary ciliary dyskinesia 4
def: "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1." [DOID:0110614, PMID:14985390]
subset: gard_rare {source="GARD:15437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD4" EXACT ABBREVIATION [DOID:0110614, MONDO:Lexical, OMIM:608646]
synonym: "ciliary dyskinesia, primary, 4" RELATED [MONDO:Lexical, OMIM:608646]
synonym: "ciliary dyskinesia, primary, 4, with or without situs inversus" RELATED [OMIM:608646]
synonym: "primary ciliary dyskinesia 4 with or without situs inversus" EXACT [DOID:0110614]
synonym: "primary ciliary dyskinesia type 4" EXACT [DOID:0110614, MONDORULE:1]
xref: DOID:0110614 {source="MONDO:equivalentTo"}
xref: GARD:15437 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110614"}
xref: MEDGEN:324841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535279 {source="MONDO:equivalentTo"}
xref: OMIM:608646 {source="DOID:0110614", source="MONDO:equivalentTo"}
xref: UMLS:C1837616 {source="MEDGEN:324841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:608646", source="DOID:0110614", source="MESH:C535279", source="MESH:C535279/inferred", source="OMIM:608646"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0012088
name: primary ciliary dyskinesia 5
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CILD5" EXACT ABBREVIATION [DOID:0110617, MONDO:Lexical, OMIM:608647]
synonym: "ciliary dyskinesia, primary, 5" RELATED [MONDO:Lexical, OMIM:608647]
synonym: "ciliary dyskinesia, primary, 5, without situs inversus" RELATED [OMIM:608647]
synonym: "ciliary dyskinesia, primary, type 5" EXACT [MONDORULE:1, OMIM:608647]
synonym: "HYDIN primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [DOID:0110617]
synonym: "primary ciliary dyskinesia caused by mutation in HYDIN" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 5" EXACT [DOID:0110617, MONDORULE:1]
xref: DOID:0110617 {source="MONDO:equivalentTo"}
xref: GARD:15438 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110617"}
xref: MEDGEN:324840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563886 {source="MONDO:equivalentTo"}
xref: OMIM:608647 {source="DOID:0110617", source="MONDO:equivalentTo"}
xref: UMLS:C1837615 {source="MEDGEN:324840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:608647", source="DOID:0110617", source="MESH:C563886", source="MONDO:Redundant", source="OMIM:608647"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19368 ! HYDIN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19368 {source="MONDO:mim2gene_medgen"} ! HYDIN

[Term]
id: MONDO:0012089
name: ichthyosis prematurity syndrome
def: "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." [Orphanet:88621]
subset: gard_rare {source="GARD:9886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88621"}
subset: orphanet_rare {source="Orphanet:88621"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ichthyosis type 4" EXACT [Orphanet:88621]
synonym: "ichthyosis congenita 4" RELATED [OMIM:608649]
synonym: "ichthyosis congenita IV" RELATED [GARD:0009886]
synonym: "ichthyosis prematurity syndrome" EXACT [MONDO:Lexical, OMIM:608649]
synonym: "ichthyosis-prematurity syndrome" RELATED [Orphanet:88621]
synonym: "idiopathic pneumonia syndrome" EXACT [NCIT:C62590]
synonym: "IPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608649, Orphanet:88621]
xref: GARD:9886 {source="MONDO:GARD"}
xref: MEDGEN:324839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536271 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"}
xref: NCIT:C62590 {source="MONDO:equivalentTo"}
xref: OMIM:608649 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"}
xref: Orphanet:88621 {source="OMIM:608649", source="MONDO:equivalentTo"}
xref: SCTID:12381000132107 {source="MONDO:equivalentTo"}
xref: UMLS:C1837610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324839"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0043905 {source="NCIT:C62590"} ! pneumonitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10998 {source="MONDO:mim2gene_medgen"} ! SLC27A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome" xsd:anyURI {source="GARD:0009886"}

[Term]
id: MONDO:0012090
name: autosomal dominant nonsyndromic hearing loss 47
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21." [DOID:0110570, PMID:12634859]
subset: gard_rare {source="GARD:18126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 47" NARROW [DOID:0110570]
synonym: "autosomal dominant nonsyndromic deafness 47" NARROW [OMIM:608652]
synonym: "autosomal dominant nonsyndromic deafness type 47" NARROW [DOID:0110570, MONDORULE:2]
synonym: "deafness, autosomal dominant 47" NARROW [MONDO:Lexical, OMIM:608652, OMIM:genemap2]
synonym: "DFNA47" NARROW ABBREVIATION [DOID:0110570, MONDO:Lexical, OMIM:608652]
xref: DOID:0110570 {source="MONDO:equivalentTo"}
xref: GARD:18126 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110570"}
xref: MEDGEN:324838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563885 {source="MONDO:equivalentTo"}
xref: OMIM:608652 {source="MONDO:equivalentTo", source="DOID:0110570"}
xref: Orphanet:90635 {source="OMIM:608652"}
xref: UMLS:C1837609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324838"}
is_a: MONDO:0019587 {source="DC-OMIM:608652", source="DOID:0110570", source="OMIM:608652"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012091
name: autosomal recessive nonsyndromic hearing loss 32
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3." [DOID:0110491, PMID:12634867]
subset: gard_rare {source="GARD:22610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 105" NARROW [DOID:0110466]
synonym: "autosomal recessive deafness 32" NARROW [DOID:0110491]
synonym: "autosomal recessive nonsyndromic deafness 105" NARROW [MONDO:0014849]
synonym: "autosomal recessive nonsyndromic deafness 32" NARROW [OMIM:608653]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CDC14A" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 105" NARROW [DOID:0110466, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic deafness type 32" NARROW [DOID:0110491, MONDORULE:2]
synonym: "CDC14A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 105" NARROW [OMIM:616958]
synonym: "deafness, autosomal recessive 32" NARROW [MONDO:Lexical, OMIM:608653]
synonym: "deafness, autosomal recessive 32, with or without immotile sperm" NARROW [OMIM:608653, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 105" NARROW [MONDORULE:2, OMIM:616958]
synonym: "DFNB105" NARROW ABBREVIATION [DOID:0110466, OMIM:616958]
synonym: "DFNB32" NARROW ABBREVIATION [DOID:0110491, MONDO:Lexical, OMIM:608653]
xref: DOID:0110466 {source="MONDO:equivalentObsolete"}
xref: DOID:0110491 {source="MONDO:equivalentTo"}
xref: GARD:22610 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110491", source="DOID:0110466"}
xref: MEDGEN:373370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563884 {source="MONDO:equivalentTo"}
xref: OMIM:608653 {source="DOID:0110491", source="MONDO:equivalentTo"}
xref: UMLS:C1837608 {source="MEDGEN:373370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:608653", source="DC-OMIM:616958", source="DOID:0110466", source="DOID:0110491", source="MONDO:Redundant", source="OMIM:608653", source="OMIM:616958"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1718 ! CDC14A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1718 {source="MONDO:mim2gene_medgen"} ! CDC14A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012092
name: hereditary sensory and autonomic neuropathy type 5
def: "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." [Orphanet:64752]
subset: gard_rare {source="GARD:12328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64752"}
subset: orphanet_rare {source="Orphanet:64752"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF" EXACT [MONDO:design_pattern]
synonym: "congenital insensitivity to pain and thermal analgesia" EXACT [Orphanet:64752]
synonym: "hereditary sensory and autonomic neuropathy type V" EXACT [DOID:0070145, Orphanet:64752]
synonym: "HSAN 5" RELATED [OMIM:608654]
synonym: "HSAN V" RELATED [GARD:0012328]
synonym: "HSAN5" EXACT ABBREVIATION [DOID:0070145, MONDO:Lexical, OMIM:608654, Orphanet:64752]
synonym: "insensitivity to pain, congenital" RELATED [OMIM:608654]
synonym: "neuropathy, hereditary sensory and autonomic, type 5" RELATED [OMIM:608654]
synonym: "neuropathy, hereditary sensory and autonomic, type V" RELATED [MONDO:Lexical, OMIM:608654]
synonym: "NGF autosomal recessive hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070145 {source="MONDO:equivalentTo"}
xref: GARD:12328 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:64752/attributed", source="Orphanet:64752/ntbt", source="Orphanet:64752"}
xref: icd11.foundation:1411011731 {source="Orphanet:64752", source="MONDO:equivalentTo"}
xref: MEDGEN:6916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000699 {source="Orphanet:64752", source="Orphanet:64752/e"}
xref: NCIT:C125386 {source="DOID:0070145"}
xref: OMIM:608654 {source="Orphanet:64752", source="DOID:0070145", source="MONDO:equivalentTo", source="Orphanet:64752/e"}
xref: Orphanet:608654 {source="DOID:0070145"}
xref: Orphanet:64752 {source="MONDO:equivalentTo", source="OMIM:608654"}
xref: PMID:14976160 {source="DOID:0070145"}
xref: PMID:77656 {source="DOID:0070145"}
xref: SCTID:128206006 {source="DOID:0070145", source="MONDO:equivalentTo"}
xref: SCTID:403605007 {source="DOID:0070145"}
xref: UMLS:C0020075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6916"}
is_a: MONDO:0015364 {source="DOID:0070145", source="OMIM:608654", source="Orphanet:64752/inferred"} ! hereditary sensory and autonomic neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7808 {source="MONDO:mim2gene_medgen"} ! NGF

[Term]
id: MONDO:0012093
name: prostate cancer, hereditary, 3
subset: gard_rare {source="GARD:15439", source="MONDO:GARD"}
subset: rare
synonym: "HPC3" RELATED ABBREVIATION [OMIM:608656]
synonym: "prostate cancer, hereditary, 3" EXACT [OMIM:608656]
synonym: "prostate cancer, hereditary, type 3" EXACT [MONDORULE:1, OMIM:608656]
synonym: "prostate cancer, susceptibility to, 3" EXACT [OMIM:608656, OMIM:genemap2]
xref: GARD:15439 {source="MONDO:GARD"}
xref: MEDGEN:373367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563883 {source="MONDO:equivalentTo"}
xref: OMIM:608656 {source="MONDO:equivalentTo"}
xref: UMLS:C1837595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373367"}
is_a: MONDO:0008315 {source="DC-OMIM:608656", source="MONDO:0012093/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012094
name: prostate cancer, hereditary, 4
subset: gard_rare {source="GARD:15440", source="MONDO:GARD"}
subset: rare
synonym: "HPC4" RELATED ABBREVIATION [OMIM:608658]
synonym: "prostate cancer, hereditary, 4" EXACT [OMIM:608658]
synonym: "prostate cancer, hereditary, on chromosome 7" RELATED [OMIM:608658]
synonym: "prostate cancer, hereditary, type 4" EXACT [MONDORULE:1, OMIM:608658]
synonym: "prostate cancer, susceptibility to, 4" EXACT [OMIM:608658, OMIM:genemap2]
xref: GARD:15440 {source="MONDO:GARD"}
xref: MEDGEN:325204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563882 {source="MONDO:equivalentTo"}
xref: OMIM:608658 {source="MONDO:equivalentTo"}
xref: UMLS:C1837593 {source="MEDGEN:325204", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:608658", source="MONDO:0012094/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012095
name: intellectual disability-brachydactyly-Pierre Robin syndrome
def: "Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness." [Orphanet:364577]
subset: gard_rare {source="GARD:17583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:364577"}
subset: ordo_malformation_syndrome {source="Orphanet:364577"}
subset: orphanet_rare {source="Orphanet:364577"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ROBIN sequence with distinctive facial appearance and brachydactyly" RELATED [OMIM:608670]
xref: GARD:17583 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:364577", source="Orphanet:364577/attributed", source="Orphanet:364577/ntbt"}
xref: MEDGEN:325196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563880 {source="MONDO:equivalentTo"}
xref: OMIM:608670 {source="MONDO:equivalentTo", source="Orphanet:364577", source="Orphanet:364577/e"}
xref: Orphanet:364577 {source="MONDO:equivalentTo", source="OMIM:608670"}
xref: UMLS:C1837564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325196"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:364577"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:364577", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0012096
name: Charcot-Marie-Tooth disease axonal type 2L
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." [Orphanet:99945]
subset: gard_rare {source="GARD:12432", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99945"}
subset: orphanet_rare {source="Orphanet:99945"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2L" RELATED [GARD:0012432]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L" RELATED [OMIM:608673]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2L" RELATED [MONDO:Lexical, OMIM:608673]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2L" EXACT [DOID:0110174]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2L" RELATED [OMIM:608673]
synonym: "CMT2L" EXACT ABBREVIATION [DOID:0110174, MONDO:Lexical, OMIM:608673, Orphanet:99945]
synonym: "HSPB8 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110174 {source="MONDO:equivalentTo"}
xref: GARD:12432 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99945", source="DOID:0110174", source="Orphanet:99945/attributed", source="Orphanet:99945/ntbt"}
xref: MEDGEN:324826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608673 {source="MONDO:equivalentTo", source="Orphanet:99945", source="DOID:0110174", source="Orphanet:99945/e"}
xref: Orphanet:99945 {source="MONDO:equivalentTo", source="DOID:0110174", source="OMIM:608673"}
xref: SCTID:719513008 {source="MONDO:equivalentTo"}
xref: UMLS:C1837552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324826"}
is_a: MONDO:0015626 {source="DOID:0110174/inferred", source="MONDO:Redundant", source="OMIM:608673", source="Orphanet:99945/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110174", source="MONDO:Redundant", source="Orphanet:99945"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30171 ! HSPB8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30171 {source="MONDO:mim2gene_medgen"} ! HSPB8

[Term]
id: MONDO:0012097
name: spondylocostal dysostosis 2, autosomal recessive
subset: gard_rare {source="GARD:9703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCDO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608681]
synonym: "spondylocostal dysostosis 2" RELATED [GARD:0009703]
synonym: "spondylocostal dysostosis 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608681]
xref: DOID:0112362 {source="MONDO:equivalentTo"}
xref: GARD:9703 {source="MONDO:GARD"}
xref: MEDGEN:332481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608681 {source="MONDO:equivalentTo"}
xref: Orphanet:2311 {source="OMIM:608681"}
xref: UMLS:C1837549 {source="MEDGEN:332481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:608681"} ! spondylocostal dysostosis
is_a: MONDO:0010180 {source="OMIM:608681", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis
intersection_of: MONDO:0000359 ! spondylocostal dysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29659 ! MESP2
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012098
name: spinocerebellar ataxia type 20
def: "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation." [Orphanet:101110]
subset: gard_rare {source="GARD:9997", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101110"}
subset: orphanet_rare {source="Orphanet:101110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 11q12 duplication syndrome, 260-Kb" RELATED [OMIM:608687]
synonym: "SCA20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608687, Orphanet:101110]
synonym: "spinocerebellar ataxia 20" RELATED [MONDO:Lexical, OMIM:608687]
synonym: "spinocerebellar ataxia type 20" EXACT [MONDORULE:2, OMIM:608687]
synonym: "spinocerebellar ataxia with dysphonia" RELATED [OMIM:608687]
synonym: "spinocerebellar ataxia with spasmodic cough" RELATED [OMIM:608687]
xref: DOID:0050971 {source="MONDO:equivalentTo"}
xref: GARD:9997 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:101110", source="Orphanet:101110/attributed", source="Orphanet:101110/ntbt"}
xref: MEDGEN:373352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537199 {source="Orphanet:101110", source="MONDO:equivalentTo", source="Orphanet:101110/e"}
xref: OMIM:608687 {source="Orphanet:101110", source="DOID:0050971", source="MONDO:equivalentTo", source="Orphanet:101110/e"}
xref: Orphanet:101110 {source="MONDO:equivalentTo", source="OMIM:608687"}
xref: SCTID:718771009 {source="MONDO:equivalentTo"}
xref: UMLS:C1837541 {source="MONDO:equivalentTo", source="MEDGEN:373352", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:101110"} ! autosomal dominant cerebellar ataxia type I

[Term]
id: MONDO:0012099
name: AICA-ribosiduria
def: "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." [Orphanet:250977]
subset: gard_rare {source="GARD:13781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:250977"}
subset: orphanet_rare {source="Orphanet:250977"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5-amino-4-imidazole carboxamide ribosiduria" EXACT [Orphanet:250977]
synonym: "AICA-ribosiduria due to ATIC deficiency" EXACT [OMIM:608688, OMIM:genemap2]
synonym: "Aica-Ribosuria due to Atic deficiency" RELATED [OMIM:608688]
synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" RELATED [OMIM:608688]
synonym: "ATIC deficiency" EXACT [Orphanet:250977]
synonym: "Atic deficiency" RELATED [OMIM:608688]
xref: GARD:13781 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:250977/attributed", source="Orphanet:250977/ntbt", source="Orphanet:250977"}
xref: MEDGEN:332474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563876 {source="MONDO:equivalentTo"}
xref: OMIM:608688 {source="Orphanet:250977/e", source="MONDO:equivalentTo", source="Orphanet:250977"}
xref: Orphanet:250977 {source="MONDO:equivalentTo", source="OMIM:608688"}
xref: SCTID:725289009 {source="MONDO:equivalentTo"}
xref: UMLS:C1837530 {source="MEDGEN:332474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:250977"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019236 {source="Orphanet:250977"} ! inborn disorder of purine metabolism
is_a: MONDO:0020242 {source="Orphanet:250977"} ! hereditary macular dystrophy
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:250977", source="Orphanet:250977/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/794 {source="MONDO:mim2gene_medgen"} ! ATIC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012100
name: major depressive disorder 2
synonym: "major depressive disorder 2" EXACT [OMIM:608691]
synonym: "major depressive disorder type 2" EXACT [MONDORULE:1, OMIM:608691]
synonym: "MDD2" EXACT ABBREVIATION [OMIM:608691]
synonym: "unipolar depression 2" RELATED [OMIM:608691]
xref: MEDGEN:324819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563875 {source="MONDO:equivalentTo"}
xref: OMIM:608691 {source="MONDO:equivalentTo"}
xref: UMLS:C1837529 {source="MEDGEN:324819", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:608691"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0002009 {source="DC-OMIM:608691", source="MESH:C563875", source="https://orcid.org/0000-0001-5208-3432"} ! major depressive disorder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0002009 {source="OMIM:608691"} ! major depressive disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5509" xsd:anyURI

[Term]
id: MONDO:0012101
name: glaucoma 1, open angle, J
subset: gard_rare {source="GARD:18228", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 1, open angle, J" EXACT [MONDO:Lexical, OMIM:608695]
synonym: "glaucoma, primary open angle, juvenile-onset, 2" RELATED [OMIM:608695]
synonym: "GLC1J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608695]
synonym: "JOAG1J" EXACT ABBREVIATION []
synonym: "JOAG2" EXACT ABBREVIATION []
xref: GARD:18228 {source="MONDO:GARD"}
xref: MEDGEN:324818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563874 {source="MONDO:equivalentTo"}
xref: OMIM:608695 {source="MONDO:equivalentTo"}
xref: Orphanet:98977 {source="OMIM:608695"}
xref: UMLS:C1837528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324818"}
is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma

[Term]
id: MONDO:0012102
name: glaucoma 1, open angle, K
subset: gard_rare {source="GARD:18229", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 1, open angle, K" EXACT [MONDO:Lexical, OMIM:608696]
synonym: "glaucoma 1K, primary open angle, juvenile-onset" EXACT [OMIM:608696, OMIM:genemap2]
synonym: "glaucoma, primary open angle, juvenile-onset, 3" RELATED [OMIM:608696]
synonym: "GLC1K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608696]
synonym: "JOAG1K" EXACT ABBREVIATION []
xref: GARD:18229 {source="MONDO:GARD"}
xref: MEDGEN:324817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563873 {source="MONDO:equivalentTo"}
xref: OMIM:608696 {source="MONDO:equivalentTo"}
xref: Orphanet:98977 {source="OMIM:608696"}
xref: UMLS:C1837527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324817"}
is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012103
name: spinocerebellar ataxia type 25
def: "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy." [Orphanet:101111]
subset: gard_rare {source="GARD:9996", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101111"}
subset: orphanet_rare {source="Orphanet:101111"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608703, Orphanet:101111]
synonym: "spinocerebellar ataxia 25" RELATED [MONDO:Lexical, OMIM:608703]
xref: DOID:0050974 {source="MONDO:equivalentTo"}
xref: GARD:9996 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:101111", source="Orphanet:101111/attributed", source="Orphanet:101111/ntbt"}
xref: MEDGEN:373347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537202 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e"}
xref: OMIM:608703 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e", source="DOID:0050974"}
xref: Orphanet:101111 {source="OMIM:608703", source="MONDO:equivalentTo"}
xref: SCTID:718770005 {source="MONDO:equivalentTo"}
xref: UMLS:C1837518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373347"}
is_a: MONDO:0019792 {source="Orphanet:101111"} ! autosomal dominant cerebellar ataxia type I

[Term]
id: MONDO:0012104
name: acquired partial lipodystrophy
def: "A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs." [Orphanet:79087]
subset: gard_rare {source="GARD:10509", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79087"}
subset: orphanet_rare {source="Orphanet:79087"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired partial lipodystrophy" EXACT [MONDO:patterns/acquired]
synonym: "APLD" EXACT ABBREVIATION [MONDO:Lexical]
synonym: "APLD, susceptibility to" RELATED [OMIM:608709]
synonym: "Barraquer-Simons syndrome" EXACT [Orphanet:79087]
synonym: "lipodystophy partial progressive" RELATED [GARD:0010509]
synonym: "lipodystrophy cephalothoracic type" RELATED [GARD:0010509]
synonym: "lipodystrophy partial acquired" RELATED [GARD:0010509]
synonym: "lipodystrophy, cephalothoracic type" RELATED [OMIM:608709]
synonym: "lipodystrophy, partial, acquired, susceptibility to" RELATED [MONDO:Lexical, OMIM:608709]
synonym: "lipodystrophy, partial, progressive" RELATED [OMIM:608709]
synonym: "partial acquired lipodystrophy" EXACT [NCIT:C129723]
synonym: "progressive cephalothoracic lipodystrophy" EXACT [Orphanet:79087]
synonym: "susceptibility to partial acquired lipodystrophy" RELATED [OMIM:608709]
xref: GARD:10509 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:79087", source="Orphanet:79087/ntbt"}
xref: icd11.foundation:2042663302 {source="MONDO:equivalentTo", source="Orphanet:79087"}
xref: MEDGEN:66352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562448 {source="MONDO:equivalentTo"}
xref: NANDO:1200862 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129723 {source="MONDO:equivalentTo"}
xref: Orphanet:79087 {source="MONDO:equivalentTo", source="OMIM:608709"}
xref: SCTID:75659004 {source="MONDO:equivalentTo"}
xref: UMLS:C0220989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66352"}
is_a: MONDO:0020089 {source="MONDO:Redundant", source="Orphanet:79087"} ! acquired lipodystrophy
is_a: MONDO:0027767 {source="MONDO:Redundant", source="NCIT:C129723"} ! partial lipodystrophy
intersection_of: MONDO:0027767 ! partial lipodystrophy
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:79087", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0021106 {source="Wikipedia:Laminopathy", source="https://orcid.org/0000-0001-5208-3432"} ! laminopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI

[Term]
id: MONDO:0012105
name: granulomatosis with polyangiitis
def: "A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." [Orphanet:900]
subset: gard_rare {source="GARD:7880", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1840"}
subset: ordo_disorder {source="Orphanet:900"}
subset: orphanet_rare {source="Orphanet:900"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANCA-associated vasculitis" BROAD [PMID:16887845, PMID:28148583]
synonym: "GPA" EXACT ABBREVIATION [Orphanet:900]
synonym: "granulomatosis - Wegener's" EXACT DEPRECATED [DOID:12132]
synonym: "granulomatosis with polyangiitis" EXACT [OMIM:608710]
synonym: "Midline granulomatosis" RELATED [GARD:0007880]
synonym: "necrotizing respiratory granulomatosis" EXACT [DOID:12132]
synonym: "pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis" EXACT [NCIT:C123111]
synonym: "Wegener granulomatosis" EXACT DEPRECATED [DOID:12132, OMIM:608710, Orphanet:900]
synonym: "Wegener's granulomatosis" EXACT DEPRECATED [Orphanet:900]
synonym: "Wegener's syndrome" EXACT [DOID:12132]
synonym: "Wg" BROAD DEPRECATED [OMIM:608710]
xref: DOID:12132 {source="MONDO:equivalentTo", source="EFO:0005297"}
xref: EFO:0005297 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7880 {source="MONDO:GARD"}
xref: ICD10CM:M31.3 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132"}
xref: ICD10CM:M31.30 {source="DOID:12132"}
xref: icd11.foundation:1020056159 {source="Orphanet:900", source="MONDO:equivalentTo"}
xref: ICD9:446.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12132", source="EFO:0005297"}
xref: MedDRA:10047888 {source="Orphanet:900", source="Orphanet:900/e"}
xref: MEDGEN:811223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014890 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132", source="EFO:0005297"}
xref: NANDO:1200263 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1201009 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200424 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123111 {source="MONDO:equivalentTo"}
xref: NCIT:C3444 {source="MONDO:equivalentTo", source="DOID:12132", source="EFO:0005297"}
xref: NORD:1840 {source="MONDO:NORD"}
xref: OMIM:608710 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132"}
xref: Orphanet:900 {source="MONDO:equivalentTo", source="OMIM:608710"}
xref: SCTID:155445002 {source="DOID:12132"}
xref: SCTID:195353004 {source="MONDO:equivalentTo", source="DOID:12132", source="EFO:0005297"}
xref: SCTID:23782005 {source="DOID:12132"}
xref: SCTID:239934006 {source="DOID:12132"}
xref: SCTID:266323005 {source="DOID:12132"}
xref: SCTID:390001000 {source="DOID:12132"}
xref: UMLS:C3495801 {source="MEDGEN:811223", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="NCIT:C123111"} ! glomerulonephritis
is_a: MONDO:0005046 {source="MONDO:Entailed"} ! immune system disorder
is_a: MONDO:0015492 {source="MESH:D014890", source="Orphanet:900"} ! anti-neutrophil cytoplasmic antibody-associated vasculitis
is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis
relationship: disease_has_feature HP:0002633 ! Vasculitis
relationship: disease_has_feature HP:0002960 ! Autoimmunity
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:900", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0012106
name: microcephaly 5, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ASPM autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive primary microcephaly caused by mutation in ASPM" EXACT [MONDO:design_pattern]
synonym: "MCPH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608716]
synonym: "microcephaly 5, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608716]
xref: DOID:0070280 {source="MONDO:equivalentTo"}
xref: GARD:15441 {source="MONDO:GARD"}
xref: MEDGEN:373344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563871 {source="MONDO:equivalentTo"}
xref: OMIM:608716 {source="MONDO:equivalentTo"}
xref: UMLS:C1837501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373344"}
is_a: MONDO:0016660 {source="DC-OMIM:608716", source="MONDO:Redundant", source="OMIM:608716"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19048 ! ASPM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19048 {source="MONDO:mim2gene_medgen"} ! ASPM

[Term]
id: MONDO:0012107
name: neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia
synonym: "neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia" EXACT [OMIM:608720]
xref: MEDGEN:324809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563870 {source="MONDO:equivalentTo"}
xref: OMIM:608720 {source="MONDO:equivalentTo"}
xref: UMLS:C1837492 {source="MEDGEN:324809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563870/inferred"} ! hereditary disease

[Term]
id: MONDO:0012108
name: spondyloepimetaphyseal dysplasia, matrilin-3 type
def: "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." [https://orcid.org/0000-0001-5208-3432, Orphanet:156728]
subset: gard_rare {source="GARD:10611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:156728"}
subset: orphanet_rare {source="Orphanet:156728"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMD MATN3-related" RELATED [GARD:0010611]
synonym: "SEMD, MATN3-related" EXACT [OMIM:608728, Orphanet:156728]
synonym: "SEMD, matrilin-3 type" EXACT [Orphanet:156728]
synonym: "spondyloepimetaphyseal dysplasia matrilin-3 related" RELATED [GARD:0010611]
synonym: "spondyloepimetaphyseal dysplasia matrilin-3 type" RELATED [GARD:0010611]
synonym: "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" EXACT [OMIM:608728, OMIM:genemap2]
synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" RELATED [OMIM:608728]
xref: GARD:10611 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:156728/attributed", source="Orphanet:156728/ntbt", source="Orphanet:156728"}
xref: MEDGEN:325181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563869 {source="MONDO:equivalentTo"}
xref: OMIM:608728 {source="Orphanet:156728/e", source="MONDO:equivalentTo", source="Orphanet:156728"}
xref: Orphanet:156728 {source="MONDO:equivalentTo", source="OMIM:608728"}
xref: SCTID:719166003 {source="MONDO:equivalentTo"}
xref: UMLS:C1837481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325181"}
is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:608728", source="Orphanet:156728", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 {source="MONDO:mim2gene_medgen"} ! MATN3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0012109
name: hypertension, essential, susceptibility to, 4
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 4" EXACT [OMIM:608742]
synonym: "hypertension, essential, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608742]
synonym: "Hyt4" RELATED [OMIM:608742]
xref: MEDGEN:325180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608742 {source="MONDO:equivalentTo"}
xref: UMLS:C1837479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325180"}
is_a: MONDO:0020573 {source="OMIM:608742", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0001134 {source="OMIM:608742", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
relationship: excluded_subClassOf MONDO:0007781 {source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension, genetic
relationship: predisposes_towards MONDO:0007781 {source="OMIM:608742"} ! essential hypertension, genetic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012110
name: growth delay due to insulin-like growth factor type 1 deficiency
def: "Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." [Orphanet:73272]
subset: gard_rare {source="GARD:10627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:73272"}
subset: orphanet_rare {source="Orphanet:73272"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "growth delay-deafness- intellectual disability syndrome" EXACT [Orphanet:73272]
synonym: "growth retardation with deafness and mental retardation due to IGF1 deficiency" EXACT [OMIM:608747, OMIM:genemap2]
synonym: "growth retardation with sensorineural deafness and intellectual disability" RELATED [OMIM:608747]
synonym: "growth retardation with sensorineural deafness and mental retardation" RELATED DEPRECATED [OMIM:608747]
synonym: "IGF-1 deficiency" EXACT [Orphanet:73272]
synonym: "IGF1 deficiency" RELATED [OMIM:608747]
synonym: "insulin-like growth Factor 1 deficiency" RELATED [OMIM:608747]
synonym: "insulin-like growth factor I deficiency" RELATED [OMIM:608747]
synonym: "primary insulin-like growth factor deficiency" EXACT [Orphanet:73272]
xref: GARD:10627 {source="MONDO:GARD"}
xref: ICD10CM:E34.3 {source="Orphanet:73272/attributed", source="Orphanet:73272/ntbt", source="Orphanet:73272"}
xref: MEDGEN:373337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563867 {source="MONDO:equivalentTo"}
xref: OMIM:608747 {source="Orphanet:73272/e", source="MONDO:equivalentTo", source="Orphanet:73272"}
xref: Orphanet:73272 {source="OMIM:608747", source="MONDO:equivalentTo"}
xref: SCTID:724385009 {source="MONDO:equivalentTo"}
xref: UMLS:C1837475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373337"}
is_a: MONDO:0015892 {source="Orphanet:73272"} ! growth hormone insensitivity syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5464 {source="MONDO:mim2gene_medgen"} ! IGF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012111
name: hypertrophic cardiomyopathy 8
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy hypertrophic mid-left ventricular chamber type 1" EXACT [DOID:0110314]
synonym: "cardiomyopathy, familial hypertrophic, 8" EXACT [DOID:0110314, MONDO:Lexical, OMIM:608751]
synonym: "cardiomyopathy, familial hypertrophic, type 8" EXACT [MONDORULE:1, OMIM:608751]
synonym: "cardiomyopathy, hypertrophic, 8" EXACT [OMIM:608751, OMIM:genemap2]
synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1" RELATED [OMIM:608751]
synonym: "CMH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608751]
synonym: "hypertrophic cardiomyopathy 8" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in MYL3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 8" EXACT [DOID:0110314, MONDORULE:1]
synonym: "MYL3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110314 {source="MONDO:equivalentTo"}
xref: MEDGEN:324806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563866 {source="MONDO:equivalentTo"}
xref: OMIM:608751 {source="DOID:0110314", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:608751"}
xref: UMLS:C1837471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324806"}
is_a: MONDO:0005045 {source="DC-OMIM:608751", source="DOID:0110314", source="MESH:C563866/inferred", source="MONDO:Redundant", source="OMIM:608751"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C563866", source="MONDO:OMIM", source="OMIM:608751"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7584 ! MYL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7584 {source="MONDO:mim2gene_medgen"} ! MYL3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012112
name: hypertrophic cardiomyopathy 10
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy, familial hypertrophic, 10" EXACT [DOID:0110316, MONDO:Lexical, OMIM:608758]
synonym: "cardiomyopathy, familial hypertrophic, type 10" EXACT [MONDORULE:2, OMIM:608758]
synonym: "cardiomyopathy, hypertrophic, 10" EXACT [OMIM:608758, OMIM:genemap2]
synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2" RELATED [OMIM:608758]
synonym: "CMH10" EXACT ABBREVIATION [DOID:0110316, MONDO:Lexical, OMIM:608758]
synonym: "hypertrophic cardiomyopathy 10" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in MYL2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 10" EXACT [DOID:0110316, MONDORULE:2]
synonym: "MYL2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110316 {source="MONDO:equivalentTo"}
xref: MEDGEN:331754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563865 {source="MONDO:equivalentTo"}
xref: OMIM:608758 {source="DOID:0110316", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:608758"}
xref: UMLS:C1834460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331754"}
is_a: MONDO:0005045 {source="DC-OMIM:608758", source="DOID:0110316", source="MESH:C563865/inferred", source="MONDO:Redundant", source="OMIM:608758"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C563865", source="MONDO:OMIM", source="OMIM:608758"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7583 ! MYL2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7583 {source="MONDO:mim2gene_medgen"} ! MYL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012113
name: epilepsy, idiopathic generalized, susceptibility to, 3
subset: predisposition
synonym: "EIG3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608762]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608762]
synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9" EXACT [OMIM:608762]
xref: DOID:0111318 {source="MONDO:equivalentTo"}
xref: MEDGEN:373335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608762 {source="MONDO:equivalentTo"}
xref: UMLS:C1837468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373335"}
is_a: MONDO:0020573 {source="OMIM:608762"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005579 {source="DC-OMIM:608762", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:608762"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0012114
name: Ehlers-Danlos syndrome, Beasley-Cohen type
subset: gard_rare {source="GARD:10102", source="MONDO:GARD"}
subset: n_of_one {xref="PMID:477010"}
subset: rare
synonym: "Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract" RELATED [OMIM:608763]
synonym: "Ehlers-Danlos syndrome with mental retardation, deafness, and cataract" RELATED DEPRECATED [OMIM:608763]
synonym: "Ehlers-Danlos syndrome, Beasley-Cohen type" EXACT [OMIM:608763]
xref: GARD:10102 {source="MONDO:GARD"}
xref: MEDGEN:332459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536199 {source="MONDO:equivalentTo"}
xref: OMIM:608763 {source="MONDO:equivalentTo"}
xref: UMLS:C1837462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332459"}
is_a: MONDO:0020066 {source="DC-OMIM:608763", source="MESH:C536199"} ! Ehlers-Danlos syndrome

[Term]
id: MONDO:0012115
name: scoliosis, isolated, susceptibility to, 3
subset: predisposition
synonym: "IS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608765]
synonym: "scoliosis, isolated, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608765]
xref: MEDGEN:373333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608765 {source="MONDO:equivalentTo"}
xref: UMLS:C1837461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373333"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis

[Term]
id: MONDO:0012116
name: spinocerebellar ataxia type 8
def: "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." [Orphanet:98760]
subset: gard_rare {source="GARD:4956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98760"}
subset: orphanet_rare {source="Orphanet:98760"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608768, Orphanet:98760]
synonym: "spinocerebellar ataxia 8" RELATED [MONDO:Lexical, OMIM:608768]
synonym: "spinocerebellar ataxia type 8" EXACT [MONDORULE:1, OMIM:608768]
xref: DOID:0050959 {source="MONDO:equivalentTo"}
xref: GARD:4956 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:98760/attributed", source="Orphanet:98760/ntbt", source="Orphanet:98760"}
xref: MEDGEN:332457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537307 {source="Orphanet:98760/e", source="Orphanet:98760"}
xref: OMIM:608768 {source="Orphanet:98760/e", source="MONDO:equivalentTo", source="DOID:0050959", source="Orphanet:98760"}
xref: Orphanet:98760 {source="OMIM:608768", source="MONDO:equivalentTo"}
xref: SCTID:715753001 {source="MONDO:equivalentTo"}
xref: UMLS:C1837454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332457"}
is_a: MONDO:0019792 {source="Orphanet:98760"} ! autosomal dominant cerebellar ataxia type I

[Term]
id: MONDO:0012117
name: ALG9-congenital disorder of glycosylation
def: "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)." [Orphanet:79328]
subset: gard_rare {source="GARD:9839", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79328"}
subset: orphanet_rare {source="Orphanet:79328"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG9-CDG" EXACT ABBREVIATION [Orphanet:79328]
synonym: "ALG9-CDG (CDG-IL)" RELATED [GARD:0009839]
synonym: "ALG9-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "carbohydrate deficient glycoprotein syndrome type 1L" EXACT [Orphanet:79328]
synonym: "carbohydrate deficient glycoprotein syndrome type IL" RELATED [GARD:0009839]
synonym: "CDG 1L" RELATED [GARD:0009839]
synonym: "CDG IL" RELATED [OMIM:608776]
synonym: "CDG syndrome type IL" EXACT [Orphanet:79328]
synonym: "CDG-IL" EXACT [Orphanet:79328]
synonym: "CDG1L" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608776, Orphanet:79328]
synonym: "congenital disorder of glycosylation type 1L" EXACT [Orphanet:79328]
synonym: "congenital disorder of glycosylation type IL" RELATED [GARD:0009839]
synonym: "congenital disorder of glycosylation, type IL" RELATED [MONDO:Lexical, OMIM:608776]
synonym: "mannosyltransferase 7-9 deficiency" EXACT [Orphanet:79328]
xref: DOID:0080564 {source="MONDO:equivalentTo"}
xref: GARD:9839 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79328", source="Orphanet:79328/attributed", source="Orphanet:79328/ntbt"}
xref: MEDGEN:443955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535750 {source="MONDO:equivalentTo"}
xref: OMIM:608776 {source="Orphanet:79328", source="MONDO:equivalentTo", source="Orphanet:79328/e"}
xref: Orphanet:79328 {source="MONDO:equivalentTo", source="OMIM:608776"}
xref: SCTID:720978005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443955"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:608776"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535750", source="MONDO:0012117/inferred", source="MONDO:Redundant", source="OMIM:608776", source="Orphanet:79328/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:79328"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15672 {source="MONDO:mim2gene_medgen"} ! ALG9

[Term]
id: MONDO:0012118
name: COG7-congenital disorder of glycosylation
def: "COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." [Orphanet:79333]
subset: gard_rare {source="GARD:9842", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79333"}
subset: orphanet_rare {source="Orphanet:79333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [Orphanet:79333]
synonym: "CDG 2E" RELATED [GARD:0009842]
synonym: "CDG IIe" RELATED [OMIM:608779]
synonym: "CDG syndrome type IIe" EXACT [Orphanet:79333]
synonym: "CDG-IIe" EXACT [Orphanet:79333]
synonym: "CDG2E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608779, Orphanet:79333]
synonym: "COG7-CDG" EXACT ABBREVIATION [Orphanet:79333]
synonym: "COG7-CDG (CDG-IIe)" RELATED [GARD:0009842]
synonym: "COG7-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "congenital disorder of glycosylation type 2e" EXACT [Orphanet:79333]
synonym: "congenital disorder of glycosylation type IIe" EXACT [Orphanet:79333]
synonym: "congenital disorder of glycosylation, type IIe" RELATED [MONDO:Lexical, OMIM:608779]
xref: DOID:0070257 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:9842 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79333/attributed", source="Orphanet:79333/ntbt", source="Orphanet:79333"}
xref: MEDGEN:419311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535754 {source="MONDO:equivalentTo"}
xref: OMIM:608779 {source="Orphanet:79333/e", source="MONDO:equivalentTo", source="Orphanet:79333"}
xref: Orphanet:79333 {source="OMIM:608779", source="MONDO:equivalentTo"}
xref: SCTID:717773005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419311"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005501 {source="DC-OMIM:608779", source="OMIM:608779"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017750 {source="Orphanet:79333"} ! defect in conserved oligomeric Golgi complex
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0005267 {source="MONDO:0018290-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder
relationship: excluded_subClassOf MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18622 {source="MONDO:mim2gene_medgen"} ! COG7

[Term]
id: MONDO:0012119
name: asperger syndrome, susceptibility to, 3
subset: predisposition
synonym: "Asperger syndrome susceptibility 3" EXACT [OMIM:608781, OMIM:genemap2]
synonym: "ASPERGER syndrome, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608781]
synonym: "ASPG3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608781]
xref: MEDGEN:373329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608781 {source="MONDO:equivalentTo"}
xref: Orphanet:1162 {source="OMIM:608781"}
xref: UMLS:C1837434 {source="MEDGEN:373329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100440 {source="OMIM:608781"} ! Asperger syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005259 {source="OMIM:608781", source="https://orcid.org/0000-0001-5208-3432"} ! Asperger syndrome
relationship: predisposes_towards MONDO:0005259 {source="OMIM:608781"} ! Asperger syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012120
name: pyruvate dehydrogenase phosphatase deficiency
def: "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period." [Orphanet:79246]
subset: gard_rare {source="GARD:9888", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79246"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" RELATED [OMIM:608782]
synonym: "PDH phosphatase deficiency" EXACT [Orphanet:79246]
synonym: "PDHPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608782]
synonym: "pyruvate dehydrogenase phosphatase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608782]
xref: GARD:9888 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:79246/attributed", source="Orphanet:79246/ntbt", source="Orphanet:79246"}
xref: MEDGEN:332448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536258 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"}
xref: OMIM:608782 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"}
xref: Orphanet:765 {source="OMIM:608782"}
xref: Orphanet:79246 {source="MONDO:equivalentTo", source="OMIM:608782"}
xref: UMLS:C1837429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332448"}
is_a: MONDO:0019169 {source="DC-OMIM:608782", source="OMIM:608782", source="Orphanet:79246"} ! pyruvate dehydrogenase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9279 {source="MONDO:mim2gene_medgen"} ! PDP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency" xsd:anyURI {source="GARD:0009888"}

[Term]
id: MONDO:0012121
name: otosclerosis 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "otosclerosis 5" EXACT [MONDO:Lexical, OMIM:608787]
synonym: "OTSC5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608787]
xref: DOID:0060924 {source="MONDO:equivalentTo"}
xref: MEDGEN:325168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563858 {source="MONDO:equivalentTo"}
xref: OMIM:608787 {source="MONDO:equivalentTo"}
xref: Orphanet:2794 {source="OMIM:608787"}
xref: UMLS:C1837422 {source="MEDGEN:325168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005349 {source="DC-OMIM:608787", source="MESH:C563858", source="OMIM:608787"} ! otosclerosis

[Term]
id: MONDO:0012122
name: moyamoya disease 3
subset: gard_rare {source="GARD:15442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Moyamoya disease 3" RELATED [MONDO:Lexical, OMIM:608796]
synonym: "MYMY3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608796]
xref: GARD:15442 {source="MONDO:GARD"}
xref: MEDGEN:373326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536993 {source="MONDO:equivalentTo"}
xref: OMIM:608796 {source="MONDO:equivalentTo"}
xref: Orphanet:2573 {source="OMIM:608796"}
xref: UMLS:C1837418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373326"}
is_a: MONDO:0016820 {source="DC-OMIM:608796", source="MESH:C536993", source="OMIM:608796"} ! Moyamoya disease

[Term]
id: MONDO:0012123
name: congenital disorder of glycosylation type 1E
def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." [Orphanet:79322]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9831", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79322"}
subset: orphanet_rare {source="Orphanet:79322"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type Ie" EXACT [Orphanet:79322]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1E" RELATED [GARD:0009831]
synonym: "CDG 1E" RELATED [GARD:0009831]
synonym: "CDG Ie" RELATED [OMIM:608799]
synonym: "CDG syndrome type Ie" EXACT [Orphanet:79322]
synonym: "CDG-Ie" EXACT [Orphanet:79322]
synonym: "CDG1E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608799, Orphanet:79322]
synonym: "CDGIe" EXACT [NCIT:C126871]
synonym: "congenital disorder of glycosylation caused by mutation in DPM1" EXACT [MONDO:design_pattern]
synonym: "congenital disorder of glycosylation type 1E" EXACT CLINGEN_LABEL []
synonym: "congenital disorder of glycosylation type 1e" EXACT [Orphanet:79322]
synonym: "congenital disorder of glycosylation type Ie" EXACT [Orphanet:79322]
synonym: "congenital disorder of glycosylation, type Ie" RELATED [MONDO:Lexical, OMIM:608799]
synonym: "Dol-P-mannosyltransferase deficiency" EXACT [Orphanet:79322]
synonym: "DPM1 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DPM1-CDG" RELATED [Orphanet:79322]
synonym: "DPM1-CDG (CDG-Ie)" RELATED [GARD:0009831]
xref: DOID:0080557 {source="MONDO:equivalentTo"}
xref: GARD:9831 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79322/attributed", source="Orphanet:79322/ntbt", source="Orphanet:79322"}
xref: MEDGEN:324784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535743 {source="MONDO:equivalentTo"}
xref: NCIT:C126871 {source="MONDO:equivalentTo"}
xref: OMIM:608799 {source="Orphanet:79322/e", source="MONDO:equivalentTo", source="Orphanet:79322"}
xref: Orphanet:79322 {source="OMIM:608799", source="MONDO:equivalentTo"}
xref: SCTID:725078006 {source="MONDO:equivalentTo"}
xref: UMLS:C1837396 {source="MEDGEN:324784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005500 {source="DC-OMIM:608799"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535743", source="MONDO:0012123/inferred", source="MONDO:Redundant", source="NCIT:C126871", source="OMIM:608799", source="Orphanet:79322/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017749 {source="Orphanet:79322"} ! disorder of multiple glycosylation
intersection_of: MONDO:0015286 ! congenital disorder of glycosylation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3005 ! DPM1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3005 {source="MONDO:mim2gene_medgen"} ! DPM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012124
name: sudden infant death-dysgenesis of the testes syndrome
def: "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." [Orphanet:168593]
subset: gard_rare {source="GARD:12382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168593"}
subset: ordo_malformation_syndrome {source="Orphanet:168593"}
subset: orphanet_rare {source="Orphanet:168593"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SIDDT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608800, Orphanet:168593]
synonym: "sudden infant death - dysgenesis of the testes" RELATED [GARD:0012382]
synonym: "sudden infant death with dysgenesis of the testes syndrome" RELATED [MONDO:Lexical, OMIM:608800]
xref: GARD:12382 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="Orphanet:168593/attributed", source="Orphanet:168593/ntbt", source="Orphanet:168593"}
xref: MEDGEN:332428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563856 {source="MONDO:equivalentTo"}
xref: OMIM:608800 {source="Orphanet:168593/e", source="MONDO:equivalentTo", source="Orphanet:168593"}
xref: Orphanet:168593 {source="OMIM:608800", source="MONDO:equivalentTo"}
xref: UMLS:C1837371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332428"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:168593"} ! respiratory system disorder
is_a: MONDO:0020040 ! 46,XY disorder of sex development
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12382 {source="MONDO:mim2gene_medgen"} ! TSPYL1

[Term]
id: MONDO:0012125
name: hypomyelinating leukodystrophy 2
def: "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17293", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GJC2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HLD2" EXACT ABBREVIATION [DOID:0060787, MONDO:Lexical, OMIM:608804]
synonym: "hypomyelinating leukodystrophy type 2" EXACT [DOID:0060787, MONDORULE:1]
synonym: "leukodystrophy caused by mutation in GJC2" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 2" RELATED [MONDO:Lexical, OMIM:608804]
synonym: "leukodystrophy, hypomyelinating, type 2" EXACT [MONDORULE:1, OMIM:608804]
synonym: "Pelizaeus-Merzbacher-like disease 1" EXACT [DOID:0060787]
synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [DOID:0060787]
synonym: "Pelizaeus-Merzbacher-like disease, 1" RELATED [OMIM:608804]
synonym: "PMLD1" EXACT ABBREVIATION [DOID:0060787, Orphanet:280282]
xref: DOID:0060787 {source="MONDO:equivalentTo"}
xref: GARD:17293 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:280282/attributed", source="Orphanet:280282/ntbt", source="Orphanet:280282", source="DOID:0060787"}
xref: MEDGEN:325157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563855 {source="MONDO:equivalentTo"}
xref: OMIM:608804 {source="Orphanet:280282", source="DOID:0060787", source="MONDO:equivalentTo", source="Orphanet:280282/e"}
xref: Orphanet:280270 {source="OMIM:608804"}
xref: Orphanet:280282 {source="OMIM:608804", source="DOID:0060787", source="MONDO:equivalentTo"}
xref: UMLS:C1837355 {source="MEDGEN:325157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017226 {source="Orphanet:280282"} ! Pelizaeus-Merzbacher-like disease
is_a: MONDO:0019046 {source="DOID:0060787", source="DOID:0060787/inferred", source="MONDO:Redundant", source="OMIM:608804", source="Orphanet:280282/inferred"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 ! GJC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 {source="MONDO:mim2gene_medgen"} ! GJC2

[Term]
id: MONDO:0012126
name: familial avascular necrosis of femoral head
def: "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty." [Orphanet:86820]
subset: gard_rare {source="GARD:10914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86820"}
subset: orphanet_rare {source="Orphanet:86820"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "ANFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608805]
synonym: "ANFH1" RELATED ABBREVIATION [OMIM:608805]
synonym: "aseptic Necrosis of femoral head" EXACT [NCIT:C35480]
synonym: "aseptic Necrosis of head of femur" EXACT [NCIT:C35480]
synonym: "avascular NECROSIS of femoral head, primary" RELATED [MONDO:Lexical, OMIM:608805]
synonym: "avascular NECROSIS of femoral head, primary, 1" RELATED [OMIM:608805]
synonym: "avascular Necrosis of femoral head, primary, 1" RELATED [OMIM:608805]
synonym: "familial avascular necrosis of the femoral head" RELATED [GARD:0010914]
synonym: "familial osteonecrosis of the femoral head" EXACT [Orphanet:86820]
synonym: "femoral head, aseptic Necrosis of" RELATED [OMIM:608805]
synonym: "femoral head, avascular Necrosis of" RELATED [OMIM:608805]
synonym: "ischaemic Necrosis of femoral head" RELATED OMO:0003005 []
synonym: "ischemic Necrosis of femoral head" RELATED [OMIM:608805]
synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805]
synonym: "primary avascular necrosis of the femoral head" RELATED [GARD:0010914]
xref: GARD:10914 {source="MONDO:GARD"}
xref: ICD10CM:M87.8 {source="Orphanet:86820/attributed", source="Orphanet:86820/ntbt", source="Orphanet:86820"}
xref: MEDGEN:909851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005271 {source="MONDO:equivalentTo"}
xref: NANDO:1200373 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35480 {source="MONDO:equivalentTo"}
xref: OMIMPS:608805 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:86820 {source="MONDO:equivalentTo", source="OMIM:608805"}
xref: SCTID:715657008 {source="MONDO:equivalentTo"}
xref: UMLS:C4275066 {source="MEDGEN:909851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018379 {source="Orphanet:86820"} ! primary avascular necrosis
is_a: MONDO:0018383 {source="https://orcid.org/0000-0002-5002-8648"} ! osteonecrosis of genetic origin
relationship: excluded_subClassOf MONDO:0019686 {source="Orphanet:86820", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete type 2 collagen-related bone disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608805"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-the-femoral-head" xsd:anyURI {source="GARD:0010914"}

[Term]
id: MONDO:0012127
name: autosomal recessive limb-girdle muscular dystrophy type 2J
def: "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." [Orphanet:140922]
subset: gard_rare {source="GARD:12534", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140922"}
subset: orphanet_rare {source="Orphanet:140922"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" EXACT [MONDO:design_pattern]
synonym: "LGMD2J" EXACT ABBREVIATION [DOID:0110283, MONDO:Lexical, OMIM:608807, Orphanet:140922]
synonym: "limb-girdle muscular dystrophy type 2J" RELATED [GARD:0012534]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 10" EXACT [OMIM:608807, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [DOID:0110283, MONDO:Lexical, OMIM:608807]
synonym: "TTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110283 {source="MONDO:equivalentTo"}
xref: GARD:12534 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:140922/attributed", source="Orphanet:140922/ntbt", source="DOID:0110283", source="Orphanet:140922"}
xref: MEDGEN:324741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563854 {source="MONDO:equivalentTo"}
xref: OMIM:608807 {source="Orphanet:140922/e", source="MONDO:equivalentTo", source="DOID:0110283", source="Orphanet:140922"}
xref: Orphanet:140922 {source="MONDO:equivalentTo", source="DOID:0110283", source="OMIM:608807"}
xref: UMLS:C1837342 {source="MEDGEN:324741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="DOID:0110283", source="MONDO:Redundant", source="OMIM:608807", source="Orphanet:140922"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 ! TTN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012128
name: transposition of the great arteries, dextro-looped
def: "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "D-TGA" RELATED [OMIM:608808]
synonym: "dextro-looped transposition of the great arteries 1" EXACT [DOID:0060770]
synonym: "dextro-looped transposition of the great arteries caused by mutation in MED13L" EXACT [MONDO:design_pattern]
synonym: "dextro-looped transposition of the great arteries type 1" EXACT [DOID:0060771, MONDORULE:1]
synonym: "DTGA" EXACT ABBREVIATION [OMIM:608808]
synonym: "DTGA1" EXACT ABBREVIATION [DOID:0060771, MONDO:Lexical, OMIM:608808]
synonym: "MED13L dextro-looped transposition of the great arteries" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "transposition of the great arteries, dextro-looped 1" RELATED [MONDO:Lexical, OMIM:608808]
synonym: "transposition of the great arteries, dextro-looped type 1" EXACT [MONDORULE:1, OMIM:608808]
xref: DOID:0060771 {source="MONDO:equivalentObsolete"}
xref: ICD10CM:Q20.3 {source="DOID:0060771"}
xref: MEDGEN:332422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563853 {source="MONDO:equivalentTo"}
xref: OMIM:608808 {source="DOID:0060771", source="MONDO:equivalentTo"}
xref: Orphanet:860 {source="OMIM:608808"}
xref: UMLS:C1837341 {source="MEDGEN:332422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019443 {source="DOID:0060771", source="MONDO:Redundant", source="OMIM:608808"} ! dextro-looped transposition of the great arteries
intersection_of: MONDO:0019443 ! dextro-looped transposition of the great arteries
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22962 ! MED13L
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22962 {source="MONDO:mim2gene_medgen"} ! MED13L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5348" xsd:anyURI

[Term]
id: MONDO:0012129
name: leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
synonym: "LACH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608809]
synonym: "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" EXACT [MONDO:Lexical, OMIM:608809]
xref: MEDGEN:324768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563852 {source="MONDO:equivalentTo"}
xref: OMIM:608809 {source="MONDO:equivalentTo"}
xref: UMLS:C1837329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324768"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema" xsd:anyURI {source="GARD:0010065"}

[Term]
id: MONDO:0012130
name: myofibrillar myopathy 2
def: "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399058"}
subset: orphanet_rare {source="Orphanet:399058"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-B crystallin-related late-onset distal myopathy" RELATED [Orphanet:399058]
synonym: "alpha-B crystallinopathy" EXACT [DOID:0080093]
synonym: "autosomal dominant distal myopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern]
synonym: "CRYAB autosomal dominant distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "late-onset distal crystallinopathy" EXACT [Orphanet:399058]
synonym: "MFM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608810]
synonym: "myofibrillar myopathy type 2" EXACT [DOID:0080093, MONDORULE:1]
synonym: "myopathy, desmin-related, associated with mutation in the Cryab Gene" RELATED [OMIM:608810]
synonym: "myopathy, myofibrillar, 2" RELATED [MONDO:Lexical, OMIM:608810]
synonym: "myopathy, myofibrillar, alpha-B crystallin-related" RELATED [OMIM:608810]
synonym: "myopathy, myofibrillar, type 2" EXACT [MONDORULE:1, OMIM:608810]
synonym: "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy" RELATED [OMIM:608810]
xref: DOID:0080093 {source="MONDO:equivalentTo"}
xref: GARD:17651 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:399058/attributed", source="Orphanet:399058/ntbt", source="Orphanet:399058"}
xref: MEDGEN:324735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563848 {source="MONDO:equivalentTo"}
xref: OMIM:608810 {source="Orphanet:399058", source="MONDO:equivalentTo", source="Orphanet:399058/e", source="DOID:0080093"}
xref: Orphanet:399058 {source="MONDO:equivalentTo"}
xref: Orphanet:98910 {source="OMIM:608810"}
xref: UMLS:C1837317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324735"}
is_a: MONDO:0005336 {source="DOID:0080093", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy
is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:399058"} ! autosomal dominant distal myopathy
intersection_of: MONDO:0016108 ! autosomal dominant distal myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 ! CRYAB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB

[Term]
id: MONDO:0012131
name: metaphyseal undermodeling, spondylar dysplasia, and overgrowth
subset: gard_rare {source="GARD:10066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498485"}
subset: orphanet_rare {source="Orphanet:498485"}
subset: rare
synonym: "metaphyseal undermodeling, spondylar dysplasia, and overgrowth" EXACT [OMIM:608811]
synonym: "overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome" EXACT [Orphanet:498485]
xref: GARD:10066 {source="MONDO:GARD"}
xref: MEDGEN:373306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537355 {source="MONDO:equivalentTo"}
xref: OMIM:608811 {source="MONDO:equivalentTo"}
xref: Orphanet:498485 {source="MONDO:equivalentTo"}
xref: UMLS:C1837316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373306"}
is_a: MONDO:0003847 {source="MESH:C537355/inferred"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10066/metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth" xsd:anyURI {source="GARD:0010066"}

[Term]
id: MONDO:0012132
name: colorectal cancer, susceptibility to, 1
def: "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal adenoma and cancer, susceptibility to" RELATED [OMIM:608812]
synonym: "colorectal cancer caused by mutation in GALNT12" EXACT [MONDO:design_pattern]
synonym: "colorectal cancer, susceptibility to, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608812]
synonym: "colorectal cancer, susceptibility to, on chromosome 9" RELATED [OMIM:608812]
synonym: "colorectal cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608812]
synonym: "CRCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608812]
synonym: "GALNT12 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to colorectal cancer 1" RELATED [OMIM:608812]
xref: MEDGEN:324734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608812 {source="MONDO:equivalentTo"}
xref: UMLS:C1837315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324734"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19877 ! GALNT12
intersection_of: predisposes_towards MONDO:0005575 ! colorectal cancer
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19877 {source="MONDO:mim2gene_medgen"} ! GALNT12

[Term]
id: MONDO:0012133
name: lateral semicircular canal malformation, familial, with external and middle ear abnormalities
synonym: "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" EXACT [OMIM:608814]
xref: MEDGEN:373305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537879 {source="MONDO:equivalentTo"}
xref: OMIM:608814 {source="MONDO:equivalentTo"}
xref: UMLS:C1837314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373305"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities" xsd:anyURI {source="GARD:0010067"}

[Term]
id: MONDO:0012134
name: myoclonic epilepsy, juvenile, susceptibility to, 3
subset: predisposition
synonym: "EJM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608816]
synonym: "epilepsy, juvenile myoclonic 3" EXACT [OMIM:608816, OMIM:genemap2]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608816]
xref: DOID:0111326 {source="MONDO:equivalentTo"}
xref: MEDGEN:324732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608816 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="OMIM:608816"}
xref: UMLS:C1837308 {source="MONDO:equivalentTo", source="MEDGEN:324732", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:608816"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0009696 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile myoclonic epilepsy
relationship: predisposes_towards MONDO:0009696 {source="OMIM:608816"} ! juvenile myoclonic epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012135
name: restless legs syndrome, susceptibility to, 2
subset: predisposition
synonym: "restless legs syndrome 2" EXACT [OMIM:608831, OMIM:genemap2]
synonym: "restless legs syndrome, susceptibility to, 2" EXACT [OMIM:608831]
synonym: "RLS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608831]
xref: MEDGEN:324722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608831 {source="MONDO:equivalentTo"}
xref: UMLS:C1837285 {source="MEDGEN:324722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100170 {source="OMIM:608831"} ! restless legs syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005391 {source="DC-OMIM:608831", source="OMIM:608831"} ! restless legs syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012136
name: carnitine palmitoyl transferase II deficiency, neonatal form
def: "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." [Orphanet:228308]
subset: gard_rare {source="GARD:17151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:228308"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" EXACT [Orphanet:228308]
synonym: "Carnitine palmitoyl transferase deficiency type 2, neonatal form" EXACT [Orphanet:228308]
synonym: "Carnitine palmitoyl transferase II deficiency, lethal systemic form" EXACT [Orphanet:228308]
synonym: "carnitine palmitoyl transferase II deficiency, neonatal form" EXACT CLINGEN_LABEL []
synonym: "Carnitine Palmitoyltransferase 2 deficiency, antenatal" RELATED [OMIM:608836]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal" RELATED [OMIM:608836]
synonym: "Carnitine Palmitoyltransferase 2 deficiency, neonatal" RELATED [OMIM:608836]
synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal" RELATED [OMIM:608836]
synonym: "CPT 2 deficiency, lethal neonatal" RELATED [OMIM:608836]
synonym: "CPT II deficiency, lethal neonatal" EXACT [OMIM:608836, OMIM:genemap2]
synonym: "Cpt2 deficiency, lethal neonatal" RELATED [OMIM:608836]
synonym: "CPT2, lethal systemic form" EXACT [Orphanet:228308]
synonym: "CPT2, neonatal form" EXACT [Orphanet:228308]
synonym: "CPTII, lethal systemic form" EXACT [Orphanet:228308]
synonym: "CPTII, neonatal form" EXACT [Orphanet:228308]
xref: GARD:17151 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:228308/attributed", source="Orphanet:228308/ntbt", source="Orphanet:228308"}
xref: MEDGEN:318896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563463 {source="MONDO:equivalentTo"}
xref: NANDO:2201132 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:608836 {source="Orphanet:228308", source="MONDO:equivalentTo", source="Orphanet:228308/e"}
xref: Orphanet:157 {source="OMIM:608836"}
xref: Orphanet:228308 {source="OMIM:608836", source="MONDO:equivalentTo"}
xref: UMLS:C1833518 {source="MEDGEN:318896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015515 {source="DC-OMIM:608836", source="Orphanet:228308"} ! carnitine palmitoyltransferase II deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 {source="MONDO:mim2gene_medgen"} ! CPT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012137
name: Carney complex - trismus - pseudocamptodactyly syndrome
def: "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." [Orphanet:319340]
subset: gard_rare {source="GARD:17448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319340"}
subset: orphanet_rare {source="Orphanet:319340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CARNEY complex variant" RELATED [OMIM:608837]
synonym: "Carney complex variant" EXACT [Orphanet:319340]
xref: GARD:17448 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:319340", source="Orphanet:319340/attributed", source="Orphanet:319340/ntbt"}
xref: MEDGEN:332400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608837 {source="MONDO:equivalentTo", source="Orphanet:319340", source="Orphanet:319340/e"}
xref: Orphanet:319340 {source="OMIM:608837", source="MONDO:equivalentTo"}
xref: UMLS:C1837245 {source="MEDGEN:332400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015285 {source="DC-OMIM:608837"} ! Carney complex
is_a: MONDO:0016432 {source="Orphanet:319340"} ! heart-hand syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:608837"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7578 {source="MONDO:mim2gene_medgen"} ! MYH8

[Term]
id: MONDO:0012138
name: muscular dystrophy-dystroglycanopathy type B6
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." [DOID:0110637, PMID:12966029, PMID:19067344]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy large-related" EXACT [DOID:0110637]
synonym: "congenital muscular dystrophy type 1D" EXACT [DOID:0110637]
synonym: "MDC1D" EXACT ABBREVIATION [DOID:0110637]
synonym: "MDDGB6" EXACT ABBREVIATION [DOID:0110637, MONDO:Lexical, OMIM:608840]
synonym: "muscular dystrophy, congenital, large-related" RELATED [OMIM:608840]
synonym: "muscular dystrophy, congenital, type 1D" RELATED [OMIM:608840]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6" EXACT [DOID:0110637, MONDO:Lexical, OMIM:608840]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT DEPRECATED [DOID:0110637, MONDO:Lexical, OMIM:608840]
xref: DOID:0110637 {source="MONDO:equivalentTo"}
xref: ICD10CM:G71.2 {source="DOID:0110637"}
xref: MEDGEN:373284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563844 {source="MONDO:equivalentTo"}
xref: OMIM:608840 {source="DOID:0110637", source="MONDO:equivalentTo"}
xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:608840"}
xref: Orphanet:98894 {source="DOID:0110637", source="MONDO:equivalentObsolete", source="OMIM:608840"}
xref: UMLS:C1837229 {source="MEDGEN:373284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000172 {source="DC-OMIM:608840", source="OMIM:608840"} ! muscular dystrophy-dystroglycanopathy, type B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6511 {source="MONDO:mim2gene_medgen"} ! LARGE1

[Term]
id: MONDO:0012139
name: macular dystrophy, retinal, 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "macular dystrophy, retinal, 3" EXACT [OMIM:608850]
synonym: "macular dystrophy, retinal, type 3" EXACT [MONDORULE:1, OMIM:608850]
synonym: "MCDR3" RELATED ABBREVIATION [OMIM:608850]
synonym: "Mcdr3" RELATED [OMIM:608850]
xref: DOID:0070440 {source="MONDO:equivalentTo"}
xref: MEDGEN:854716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608850 {source="MONDO:equivalentTo"}
xref: UMLS:C3888009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854716"}
is_a: MONDO:0031166 {source="OMIM:608850"} ! macular dystrophy, retinal

[Term]
id: MONDO:0012140
name: obsolete pulmonary function
synonym: "lung function, accelerated rate of decline In, smoking-related" RELATED [OMIM:608852]
synonym: "Plf" RELATED [OMIM:608852]
synonym: "pulmonary function" RELATED [OMIM:608852]
xref: OMIM:608852 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0012141
name: orofacial cleft 6, susceptibility to
def: "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "cleft lip with or without cleft palate, nonsyndromic, 6" RELATED [OMIM:608864]
synonym: "IRF6 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OFC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608864]
synonym: "orofacial cleft 6" EXACT [OMIM:608864, OMIM:genemap2]
synonym: "orofacial cleft 6, susceptibility to" EXACT [MONDO:Lexical, OMIM:608864]
synonym: "orofacial cleft caused by mutation in IRF6" EXACT [MONDO:design_pattern]
synonym: "susceptibility to orofacial cleft 6" RELATED [OMIM:608864]
xref: DOID:0080593 {source="MONDO:equivalentTo"}
xref: MEDGEN:332391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608864 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:608864"}
xref: UMLS:C1837213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332391"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 ! IRF6
intersection_of: predisposes_towards MONDO:0000358 ! orofacial cleft
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6121 {source="MONDO:mim2gene_medgen"} ! IRF6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012142
name: orofacial cleft 5
def: "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18305", source="MONDO:GARD"}
subset: rare
synonym: "cleft lip with or without cleft palate, nonsyndromic, 5" RELATED [OMIM:608874]
synonym: "MSX1 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OFC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608874]
synonym: "orofacial cleft 5" EXACT [MONDO:Lexical, OMIM:608874]
synonym: "orofacial cleft caused by mutation in MSX1" EXACT [MONDO:design_pattern]
synonym: "orofacial cleft type 5" EXACT [MONDORULE:1, OMIM:608874]
xref: DOID:0080399 {source="MONDO:equivalentTo"}
xref: GARD:18305 {source="MONDO:GARD"}
xref: MEDGEN:373280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563843 {source="MONDO:equivalentTo"}
xref: OMIM:608874 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:608874"}
xref: UMLS:C1837210 {source="MEDGEN:373280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:608874"} ! orofacial cleft
is_a: MONDO:0015420 {source="Orphanet:141291/btnt"} ! cleft lip and alveolus
is_a: MONDO:0016043 {source="Orphanet:199302/btnt"} ! isolated cleft lip
is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate
intersection_of: MONDO:0000358 ! orofacial cleft
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 ! MSX1
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 {source="MONDO:mim2gene_medgen"} ! MSX1

[Term]
id: MONDO:0012143
name: hereditary cryohydrocytosis with reduced stomatin
subset: gard_rare {source="GARD:17036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168577"}
subset: orphanet_rare {source="Orphanet:168577"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ChC type 2" EXACT [Orphanet:168577]
synonym: "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly" RELATED [OMIM:608885]
synonym: "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly" RELATED DEPRECATED [OMIM:608885]
synonym: "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis" RELATED [OMIM:608885]
synonym: "hereditary cryohydrocytosis type 2" EXACT [Orphanet:168577]
synonym: "sdCHC" EXACT [Orphanet:168577]
synonym: "SDCHCN" RELATED ABBREVIATION [OMIM:608885]
synonym: "stomatin-deficient cryohydrocytosis" EXACT [Orphanet:168577]
synonym: "stomatin-deficient cryohydrocytosis with neurologic defects" RELATED [OMIM:608885]
xref: GARD:17036 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:168577/attributed", source="Orphanet:168577/ntbt", source="Orphanet:168577"}
xref: MEDGEN:332390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563840 {source="MONDO:equivalentTo"}
xref: OMIM:608885 {source="Orphanet:168577", source="MONDO:equivalentTo", source="Orphanet:168577/e"}
xref: Orphanet:168577 {source="MONDO:equivalentTo", source="OMIM:608885"}
xref: UMLS:C1837206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332390"}
is_a: MONDO:0000508 {source="Orphanet:168577", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0020102 {source="Orphanet:168577"} ! hereditary stomatocytosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11005 {source="MONDO:mim2gene_medgen"} ! SLC2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012144
name: Waardenburg syndrome type 2D
def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene." [MONDO:patterns/disease_series_by_gene]
subset: inferred_rare
subset: rare
synonym: "SNAI2 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Waardenburg syndrome type 2 caused by mutation in SNAI2" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type IID" EXACT [DOID:0110952]
synonym: "Waardenburg syndrome, type 2D" RELATED [MONDO:Lexical, OMIM:608890]
synonym: "WS2D" EXACT ABBREVIATION [DOID:0110952, MONDO:Lexical, OMIM:608890]
xref: DOID:0110952 {source="MONDO:equivalentTo"}
xref: MEDGEN:323102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563839 {source="MONDO:equivalentTo"}
xref: OMIM:608890 {source="DOID:0110952", source="MONDO:equivalentTo"}
xref: Orphanet:3440 {source="OMIM:608890"}
xref: Orphanet:895 {source="OMIM:608890"}
xref: UMLS:C1837203 {source="MEDGEN:323102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="DOID:0110952", source="MONDO:Redundant", source="OMIM:608890"} ! Waardenburg syndrome
is_a: MONDO:0019517 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! Waardenburg syndrome type 2
intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11094 ! SNAI2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11094 {source="MONDO:mim2gene_medgen"} ! SNAI2

[Term]
id: MONDO:0012145
name: macular degeneration, age-related, 3
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age-related macular degeneration caused by mutation in FBLN5" EXACT [MONDO:design_pattern]
synonym: "ARMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608895]
synonym: "FBLN5 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HNARMD" RELATED ABBREVIATION [OMIM:608895]
synonym: "macular degeneration, age-related, 3" EXACT [MONDO:Lexical, OMIM:608895]
synonym: "macular Degeneration, age-related, type 3" EXACT [MONDORULE:1, OMIM:608895]
synonym: "neuropathy, hereditary, with or without age-related macular Degeneration" RELATED [OMIM:608895]
synonym: "neuropathy, hereditary, with or without age-related macular degeneration" RELATED [OMIM:608895]
xref: MEDGEN:373276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563838 {source="MONDO:equivalentTo"}
xref: OMIM:608895 {source="MONDO:equivalentTo"}
xref: UMLS:C1837187 {source="MEDGEN:373276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:608895", source="MONDO:Redundant", source="OMIM:608895"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 ! FBLN5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 {source="MONDO:mim2gene_medgen"} ! FBLN5

[Term]
id: MONDO:0012146
name: familial hemophagocytic lymphohistiocytosis 3
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9928", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial hemophagocytic lymphohistiocytosis type 3" EXACT [DOID:0110923, MONDORULE:1]
synonym: "FHL3" EXACT ABBREVIATION [DOID:0110923, MONDO:Lexical, OMIM:608898]
synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D" EXACT [MONDO:design_pattern]
synonym: "hemophagocytic lymphohistiocytosis, familial, 3" RELATED [MONDO:Lexical, OMIM:608898]
synonym: "hemophagocytic lymphohistiocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:608898]
synonym: "HLH3" EXACT ABBREVIATION [DOID:0110923]
synonym: "Hlh3" RELATED [OMIM:608898]
synonym: "HPLH3" EXACT ABBREVIATION [DOID:0110923]
synonym: "Hplh3" RELATED [OMIM:608898]
synonym: "UNC13D genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110923 {source="MONDO:equivalentTo"}
xref: GARD:9928 {source="MONDO:GARD"}
xref: MEDGEN:332383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537251 {source="MONDO:equivalentTo"}
xref: NANDO:2200729 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:608898 {source="DOID:0110923", source="MONDO:equivalentTo"}
xref: Orphanet:540 {source="OMIM:608898", source="MONDO:directSiblingOf"}
xref: UMLS:C1837174 {source="MEDGEN:332383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015541 {source="MONDO:Redundant", source="OMIM:608898", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary hemophagocytic lymphohistiocytosis
intersection_of: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23147 ! UNC13D
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23147 {source="MONDO:mim2gene_medgen"} ! UNC13D
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9928/hemophagocytic-lymphohistiocytosis-familial-3" xsd:anyURI {source="GARD:0009928"}

[Term]
id: MONDO:0012147
name: coronary heart disease, susceptibility to, 5
def: "Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "Chds5" RELATED [OMIM:608901]
synonym: "coronary artery disease caused by mutation in KALRN" EXACT [MONDO:design_pattern]
synonym: "coronary artery disease, early-onset" RELATED [OMIM:608901]
synonym: "coronary heart disease, susceptibility to, 5" EXACT [OMIM:608901]
synonym: "coronary heart disease, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:608901]
synonym: "KALRN coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to coronary heart disease 5" RELATED [OMIM:608901]
xref: MEDGEN:323093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608901 {source="MONDO:equivalentTo"}
xref: UMLS:C1837173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323093"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4814 ! KALRN
intersection_of: predisposes_towards MONDO:0005010 ! coronary artery disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4814 {source="MONDO:mim2gene_medgen"} ! KALRN

[Term]
id: MONDO:0012148
name: obsolete drug metabolism, poor, CYP2D6-related
synonym: "codeine sensitivity" EXACT [OMIM:608902, OMIM:genemap2]
synonym: "codeine, ultrarapid metabolism of" RELATED [OMIM:608902]
synonym: "debrisoquine sensitivity" EXACT [OMIM:608902, OMIM:genemap2]
synonym: "debrisoquine, poor metabolism of" RELATED [OMIM:608902]
synonym: "debrisoquine, ultrarapid metabolism of" RELATED [OMIM:608902]
synonym: "drug metabolism, poor, CYP2D6-related" EXACT [OMIM:608902]
synonym: "drug metabolism, ultrarapid, CYP2D6-related" RELATED [OMIM:608902]
synonym: "nortriptyline, poor metabolism of" RELATED [OMIM:608902]
synonym: "sparteine, poor metabolism of" RELATED [OMIM:608902]
xref: MESH:C563835 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:608902 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0012149
name: attention deficit-hyperactivity disorder, susceptibility to, 1
subset: predisposition
synonym: "ADHD1" EXACT ABBREVIATION [OMIM:608903]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 1" EXACT [OMIM:608903]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608903]
xref: MEDGEN:323087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608903 {source="MONDO:equivalentTo"}
xref: UMLS:C1837153 {source="MEDGEN:323087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:608903", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0007743 {source="OMIM:608903", source="https://orcid.org/0000-0001-5208-3432"} ! attention deficit-hyperactivity disorder
relationship: predisposes_towards MONDO:0007743 {source="OMIM:608903"} ! attention deficit-hyperactivity disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012150
name: attention deficit-hyperactivity disorder, susceptibility to, 2
subset: predisposition
synonym: "ADHD2" EXACT ABBREVIATION [OMIM:608904]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 2" EXACT [OMIM:608904]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608904]
xref: MEDGEN:323086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608904 {source="MONDO:equivalentTo"}
xref: UMLS:C1837152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323086"}
is_a: MONDO:0020573 {source="OMIM:608904", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0007743 {source="OMIM:608904", source="https://orcid.org/0000-0001-5208-3432"} ! attention deficit-hyperactivity disorder
relationship: predisposes_towards MONDO:0007743 {source="OMIM:608904"} ! attention deficit-hyperactivity disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012151
name: attention deficit-hyperactivity disorder, susceptibility to, 3
subset: predisposition
synonym: "ADHD3" EXACT ABBREVIATION [OMIM:608905]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 3" EXACT [OMIM:608905]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608905]
xref: MEDGEN:323085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608905 {source="MONDO:equivalentTo"}
xref: UMLS:C1837151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323085"}
is_a: MONDO:0020573 {source="OMIM:608905", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0007743 {source="OMIM:608905", source="https://orcid.org/0000-0001-5208-3432"} ! attention deficit-hyperactivity disorder
relationship: predisposes_towards MONDO:0007743 {source="OMIM:608905"} ! attention deficit-hyperactivity disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012152
name: attention deficit-hyperactivity disorder, susceptibility to, 4
subset: predisposition
synonym: "ADHD4" EXACT ABBREVIATION [OMIM:608906]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 4" EXACT [OMIM:608906]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608906]
xref: MEDGEN:373267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608906 {source="MONDO:equivalentTo"}
xref: UMLS:C1837150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373267"}
is_a: MONDO:0020573 {source="OMIM:608906", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0007743 {source="OMIM:608906", source="https://orcid.org/0000-0001-5208-3432"} ! attention deficit-hyperactivity disorder
relationship: predisposes_towards MONDO:0007743 {source="OMIM:608906"} ! attention deficit-hyperactivity disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012153
name: Alzheimer disease 9
synonym: "AD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608907]
synonym: "Alzheimer disease 9" EXACT [MONDO:Lexical, OMIM:608907]
synonym: "Alzheimer disease 9, late-onset" RELATED [OMIM:608907]
synonym: "Alzheimer disease 9, susceptibility to" RELATED [OMIM:608907]
xref: DOID:0111364 {source="MONDO:equivalentTo"}
xref: MEDGEN:924255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563834 {source="MONDO:equivalentTo"}
xref: OMIM:608907 {source="MONDO:equivalentTo"}
xref: Orphanet:1020 {source="OMIM:608907"}
xref: UMLS:C4282179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924255"}
intersection_of: MONDO:0020573 {source="MONDO:mim2gene_medgen"} ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37 {source="MONDO:mim2gene_medgen"} ! ABCA7
intersection_of: predisposes_towards MONDO:0015140 {source="MONDO:mim2gene_medgen"} ! early-onset autosomal dominant Alzheimer disease

[Term]
id: MONDO:0012154
name: myopia 6
def: "Any myopia in which the cause of the disease is a mutation in the SCO2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9937", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "myopia (disease) caused by mutation in SCO2" EXACT []
synonym: "myopia 6" EXACT [MONDO:Lexical, OMIM:608908]
synonym: "myopia type 6" EXACT [MONDORULE:1, OMIM:608908]
synonym: "myopia, susceptibility to" RELATED [GARD:0009937]
synonym: "MYP6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608908]
synonym: "SCO2 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: GARD:9937 {source="MONDO:GARD"}
xref: MEDGEN:324696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536105 {source="MONDO:equivalentTo"}
xref: OMIM:608908 {source="MONDO:equivalentTo"}
xref: Orphanet:98619 {source="OMIM:608908"}
xref: UMLS:C1837148 {source="MEDGEN:324696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:608908", source="MESH:C536105", source="MONDO:Redundant", source="OMIM:608908", source="Orphanet:98619/btnt"} ! myopia
intersection_of: MONDO:0001384 ! myopia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 ! SCO2
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020207"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 {source="MONDO:mim2gene_medgen"} ! SCO2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9937/myopia-6" xsd:anyURI {source="GARD:0009937"}

[Term]
id: MONDO:0012155
name: choanal atresia
def: "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." [Orphanet:137914]
subset: gard_rare {source="GARD:16951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137914"}
subset: ordo_morphological_anomaly {source="Orphanet:137914"}
subset: orphanet_rare {source="Orphanet:137914"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atresia of nares" EXACT [DOID:9574]
synonym: "choanal atresia, POSTERIOR" RELATED [MONDO:Lexical, OMIM:608911]
synonym: "imperforate nares" EXACT [DOID:9574]
synonym: "PCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608911]
synonym: "posterior choanal atresia" EXACT [DOID:9574]
xref: DOID:9574 {source="MONDO:equivalentTo"}
xref: GARD:16951 {source="MONDO:GARD"}
xref: ICD10CM:Q30.0 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"}
xref: icd11.foundation:2099486655 {source="MONDO:equivalentTo", source="Orphanet:137914"}
xref: ICD9:748.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9574"}
xref: MedDRA:10008587 {source="Orphanet:137914", source="Orphanet:137914/e"}
xref: MEDGEN:3395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562435 {source="DOID:9574"}
xref: MESH:D002754 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"}
xref: OMIM:608911 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"}
xref: Orphanet:137914 {source="OMIM:608911", source="MONDO:equivalentTo"}
xref: SCTID:14988006 {source="DOID:9574"}
xref: SCTID:156934002 {source="DOID:9574"}
xref: SCTID:204508009 {source="MONDO:equivalentTo", source="DOID:9574"}
xref: SCTID:204509001 {source="DOID:9574"}
xref: SCTID:204514002 {source="DOID:9574"}
xref: SCTID:53458004 {source="DOID:9574"}
xref: UMLS:C0008297 {source="MEDGEN:3395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002232 {source="DOID:9574"} ! nasal cavity disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012156
name: myasthenic syndrome, congenital, 1B, fast-channel
def: "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q." [DOID:0110662, PMID:10195214, PMID:15079006, PMID:25792100]
subset: gard_rare {source="GARD:15445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS1B" EXACT ABBREVIATION [DOID:0110662, MONDO:Lexical, OMIM:608930]
synonym: "congenital myasthenic syndrome 1B" RELATED [DOID:0110662]
synonym: "congenital myasthenic syndrome 1B, fast-channel" EXACT [DOID:0110662]
synonym: "congenital myasthenic syndrome type 1B" EXACT [DOID:0110662, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 1B, FAST-channel" RELATED [OMIM:608930]
synonym: "myasthenic syndrome, congenital, 1B, fast-channel" EXACT [MONDO:Lexical, OMIM:608930]
xref: DOID:0110662 {source="MONDO:equivalentTo"}
xref: GARD:15445 {source="MONDO:GARD"}
xref: MEDGEN:909200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608930 {source="MONDO:equivalentTo", source="DOID:0110662"}
xref: Orphanet:590 {source="OMIM:608930"}
xref: UMLS:C4225405 {source="MEDGEN:909200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110662", source="MONDO:Redundant", source="OMIM:608930"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="MONDO:Redundant", source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
relationship: disease_has_basis_in_dysfunction_of GO:0098975 ! postsynapse of neuromuscular junction
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1955 {source="MONDO:mim2gene_medgen"} ! CHRNA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012157
name: congenital myasthenic syndrome 4C
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [DOID:0110679, PMID:25792100, PMID:8957026]
subset: gard_rare {source="GARD:10108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS Id" EXACT [DOID:0110679]
synonym: "Cms Id" RELATED [OMIM:608931]
synonym: "Cms Id, formerly" RELATED [OMIM:608931]
synonym: "CMS1D" EXACT ABBREVIATION [DOID:0110679]
synonym: "CMS4C" EXACT ABBREVIATION [DOID:0110679, MONDO:Lexical, OMIM:608931]
synonym: "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency" EXACT [DOID:0110679]
synonym: "congenital myasthenic syndrome associated with acetylcholine receptor deficiency" RELATED [GARD:0010108]
synonym: "congenital myasthenic syndrome type 4C" EXACT [DOID:0110679, MONDORULE:4]
synonym: "congenital myasthenic syndrome type Id" EXACT [DOID:0110679]
synonym: "familial infantile myasthenia 1" EXACT [DOID:0110679]
synonym: "FIM1" EXACT ABBREVIATION [DOID:0110679]
synonym: "myasthenia, familial infantile, 1" RELATED [OMIM:608931]
synonym: "myasthenia, familial infantile, 1, formerly" RELATED [OMIM:608931]
synonym: "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:608931]
synonym: "myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency" RELATED [GARD:0010108]
synonym: "myasthenic syndrome, congenital, type Id" RELATED [OMIM:608931]
xref: DOID:0110679 {source="MONDO:equivalentTo"}
xref: GARD:10108 {source="MONDO:GARD"}
xref: MEDGEN:373251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608931 {source="DOID:0110679", source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:608931"}
xref: UMLS:C1837091 {source="MEDGEN:373251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110679", source="MONDO:Redundant", source="OMIM:608931"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="MONDO:Redundant", source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1966 ! CHRNE
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4241 ! GFPT1
relationship: disease_has_basis_in_dysfunction_of GO:0098975 ! postsynapse of neuromuscular junction
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012158
name: keratoconus 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus 2" EXACT [MONDO:Lexical, OMIM:608932]
synonym: "KTCN2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608932]
xref: MEDGEN:332363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563827 {source="MONDO:equivalentTo"}
xref: OMIM:608932 {source="MONDO:equivalentTo"}
xref: Orphanet:2335 {source="OMIM:608932"}
xref: UMLS:C1837090 {source="MEDGEN:332363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015486 {source="DC-OMIM:608932", source="MESH:C563827", source="OMIM:608932"} ! keratoconus

[Term]
id: MONDO:0012159
name: lung cancer susceptibility 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LNCR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608935]
synonym: "lung cancer susceptibility" EXACT [OMIM:608935, OMIM:genemap2]
synonym: "lung cancer susceptibility 1" EXACT [MONDO:Lexical, OMIM:608935]
xref: MEDGEN:373250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608935 {source="MONDO:equivalentTo"}
xref: UMLS:C1837089 {source="MEDGEN:373250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:608935", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0008903 {source="DC-OMIM:608935", source="https://orcid.org/0000-0001-5208-3432"} ! lung cancer
relationship: predisposes_towards MONDO:0008903 {source="OMIM:608935"} ! lung cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012160
name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
def: "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." [Orphanet:85167]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85167"}
subset: orphanet_rare {source="Orphanet:85167"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SmD-CRD" EXACT [Orphanet:85167]
synonym: "SMDCRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608940]
synonym: "spondylometaphyseal dysplasia with cone-rod dystrophy" RELATED [MONDO:Lexical, OMIM:608940]
synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0112300 {source="MONDO:equivalentTo"}
xref: GARD:10647 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:85167", source="Orphanet:85167/attributed", source="Orphanet:85167/ntbt"}
xref: MEDGEN:324684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563825 {source="MONDO:equivalentTo"}
xref: OMIM:608940 {source="Orphanet:85167", source="MONDO:equivalentTo", source="Orphanet:85167/e"}
xref: Orphanet:85167 {source="MONDO:equivalentTo", source="OMIM:608940"}
xref: UMLS:C1837073 {source="MEDGEN:324684", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="Orphanet:85167", source="PMID:31633310"} ! spondylometaphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8754 {source="MONDO:mim2gene_medgen"} ! PCYT1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012161
name: susceptibility to respiratory infections associated with CD8alpha chain mutation
def: "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes." [Orphanet:169085]
subset: clingen {source="MONDO:CLINGEN"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169085"}
subset: orphanet_rare {source="Orphanet:169085"}
subset: predisposition
subset: rare
synonym: "CD8 deficiency, familial" RELATED [OMIM:608957]
synonym: "familial CD8 deficiency" EXACT [Orphanet:169085]
synonym: "susceptibility to respiratory infections associated with CD8alpha chain mutation" EXACT CLINGEN_LABEL []
xref: ICD10CM:D84.8 {source="Orphanet:169085", source="Orphanet:169085/attributed", source="Orphanet:169085/ntbt"}
xref: MEDGEN:323058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563824 {source="MONDO:equivalentTo"}
xref: NANDO:1200326 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200699 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:608957 {source="Orphanet:169085/e", source="MONDO:equivalentTo", source="Orphanet:169085"}
xref: Orphanet:169085 {source="OMIM:608957", source="MONDO:equivalentTo"}
xref: SCTID:766983005 {source="MONDO:equivalentTo"}
xref: UMLS:C1837065 {source="MEDGEN:323058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:169085", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1706 {source="MONDO:mim2gene_medgen"} ! CD8A
relationship: predisposes_towards MONDO:0024355 {source="https://orcid.org/0000-0001-5208-3432"} ! respiratory tract infectious disorder

[Term]
id: MONDO:0012162
name: patterned macular dystrophy 2
def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT [DOID:0060864]
synonym: "CTNNA1 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular dystrophy, butterfly-Shaped pigmentary, 2" RELATED [OMIM:608970]
synonym: "macular dystrophy, patterned, 2" RELATED [OMIM:608970]
synonym: "macular dystrophy, patterned, type 2" EXACT [MONDORULE:1, OMIM:608970]
synonym: "MDPT2" EXACT ABBREVIATION [DOID:0060864]
synonym: "patterned macular dystrophy caused by mutation in CTNNA1" EXACT [MONDO:design_pattern]
synonym: "patterned macular dystrophy type 2" EXACT [DOID:0060864, MONDORULE:1]
xref: DOID:0060864 {source="MONDO:equivalentTo"}
xref: GARD:18238 {source="MONDO:GARD"}
xref: MEDGEN:332348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608970 {source="DOID:0060864", source="MONDO:equivalentTo"}
xref: Orphanet:99001 {source="OMIM:608970"}
xref: UMLS:C1837029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332348"}
is_a: MONDO:0020381 {source="DOID:0060864", source="MONDO:Redundant", source="OMIM:608970"} ! patterned macular dystrophy
intersection_of: MONDO:0020381 ! patterned macular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2509 ! CTNNA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2509 {source="MONDO:mim2gene_medgen"} ! CTNNA1

[Term]
id: MONDO:0012163
name: immunodeficiency 104
def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31." [DOID:0090014, PMID:9068311, PMID:9843216]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18293", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [DOID:0090014]
synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT [DOID:0090014]
synonym: "IMD104" EXACT ABBREVIATION [OMIM:608971]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:608971]
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" EXACT CLINGEN_LABEL [OMIM:608971]
synonym: "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive" EXACT [OMIM:608971, OMIM:genemap2]
synonym: "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type" EXACT [OMIM:608971, OMIM:genemap2]
xref: DOID:0090014 {source="MONDO:equivalentTo"}
xref: GARD:18293 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="DOID:0090014"}
xref: MEDGEN:1801019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563822 {source="MONDO:equivalentTo"}
xref: OMIM:608971 {source="DOID:0090014", source="MONDO:equivalentTo"}
xref: Orphanet:169154 {source="DOID:0090014", source="MONDO:directSiblingOf", source="OMIM:608971"}
xref: Orphanet:169157 {source="MONDO:directSiblingOf", source="OMIM:608971"}
xref: Orphanet:169160 {source="MONDO:relatedTo", source="OMIM:608971"}
xref: UMLS:C5676890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801019"}
is_a: MONDO:0031520 {source="DOID:0090014"} ! familial severe combined immunodeficiency
is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6024 {source="OMIM:608971"} ! IL7R
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5160" xsd:anyURI

[Term]
id: MONDO:0012164
name: Meacham syndrome
def: "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." [Orphanet:3097]
subset: gard_rare {source="GARD:3432", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3097"}
subset: ordo_malformation_syndrome {source="Orphanet:3097"}
subset: orphanet_rare {source="Orphanet:3097"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype" RELATED [GARD:0003432]
synonym: "Meacham syndrome" EXACT [OMIM:608978]
synonym: "Meacham Winn Culler syndrome" RELATED [GARD:0003432]
synonym: "Meacham-Winn-Culler syndrome" EXACT [Orphanet:3097]
synonym: "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome" EXACT [Orphanet:3097]
xref: GARD:3432 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3097/attributed", source="Orphanet:3097/ntbt", source="Orphanet:3097"}
xref: MEDGEN:373234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538162 {source="MONDO:equivalentTo"}
xref: OMIM:608978 {source="Orphanet:3097/e", source="MONDO:equivalentTo", source="Orphanet:3097"}
xref: Orphanet:3097 {source="OMIM:608978", source="MONDO:equivalentTo"}
xref: SCTID:722461004 {source="MONDO:equivalentTo"}
xref: UMLS:C1837026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373234"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0020040 ! 46,XY disorder of sex development
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012165
name: BNAR syndrome
def: "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." [Orphanet:217266]
subset: gard_rare {source="GARD:10595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217266"}
subset: ordo_malformation_syndrome {source="Orphanet:217266"}
subset: orphanet_rare {source="Orphanet:217266"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bifid NOSE with or without anorectal and renal anomalies" RELATED [MONDO:Lexical, OMIM:608980]
synonym: "bifid nose with or without anorectal and renal anomalies" EXACT [Orphanet:217266]
synonym: "BNAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608980]
xref: GARD:10595 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:217266/attributed", source="Orphanet:217266/ntbt", source="Orphanet:217266"}
xref: MEDGEN:413305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567672 {source="MONDO:equivalentTo"}
xref: OMIM:608980 {source="Orphanet:217266/e", source="MONDO:equivalentTo", source="Orphanet:217266"}
xref: Orphanet:217266 {source="MONDO:equivalentTo", source="OMIM:608980"}
xref: SCTID:717940006 {source="MONDO:equivalentTo"}
xref: UMLS:C2750433 {source="MEDGEN:413305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000110 {source="DC-OMIM:608980"} ! bifid nose
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:217266"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 {source="MONDO:mim2gene_medgen"} ! FREM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012166
name: autosomal dominant sensory ataxia 1
def: "Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADSA" EXACT ABBREVIATION [DOID:0111170]
synonym: "Adsa" RELATED [OMIM:608984]
synonym: "ataxia, sensory, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608984]
synonym: "hereditary ataxia caused by mutation in RNF170" EXACT [MONDO:design_pattern]
synonym: "RNF170 hereditary ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SNAX1" EXACT ABBREVIATION [DOID:0111170, MONDO:Lexical, OMIM:608984]
xref: DOID:0111170 {source="MONDO:equivalentTo"}
xref: MEDGEN:332346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608984 {source="DOID:0111170", source="MONDO:equivalentTo"}
xref: UMLS:C1837015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332346"}
is_a: MONDO:0003847 {source="OMIM:608984"} ! hereditary disease
is_a: MONDO:0100311 {source="https://orcid.org/0000-0001-5208-3432"} ! sensory ataxia
intersection_of: MONDO:0100311 ! sensory ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25358 ! RNF170
relationship: excluded_subClassOf MONDO:0100309 {source="DOID:0111170", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25358 {source="MONDO:mim2gene_medgen"} ! RNF170

[Term]
id: MONDO:0012167
name: atrial fibrillation, familial, 2
subset: gard_rare {source="GARD:15446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ATFB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608988]
synonym: "atrial fibrillation, familial, 2" EXACT [MONDO:Lexical, OMIM:608988]
xref: GARD:15446 {source="MONDO:GARD"}
xref: MEDGEN:324886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563903 {source="MONDO:equivalentTo"}
xref: OMIM:608988 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:608988"}
xref: UMLS:C1837812 {source="MONDO:equivalentTo", source="MEDGEN:324886", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:608988", source="OMIM:608988"} ! familial atrial fibrillation

[Term]
id: MONDO:0012168
name: dyslexia, susceptibility to, 8
subset: predisposition
synonym: "dyslexia, susceptibility to, 8" EXACT [OMIM:608995]
synonym: "dyslexia, susceptibility to, 8, multifactorial" EXACT [OMIM:608995, OMIM:genemap2]
synonym: "DYX8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608995]
xref: MEDGEN:332344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608995 {source="MONDO:equivalentTo"}
xref: UMLS:C1837009 {source="MONDO:equivalentTo", source="MEDGEN:332344", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005489 {source="DC-OMIM:608995", source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia
relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0002-4142-7153"} ! dyslexia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012169
name: premature ovarian failure 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Pof3" RELATED [MONDO:Lexical, OMIM:608996]
synonym: "premature ovarian failure 3" EXACT [MONDO:Lexical, OMIM:608996]
synonym: "premature ovarian failure type 3" EXACT [MONDORULE:1, OMIM:608996]
xref: DOID:0080860 {source="MONDO:equivalentTo"}
xref: MEDGEN:373230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563816 {source="MONDO:equivalentTo"}
xref: OMIM:608996 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:608996"}
xref: UMLS:C1837008 {source="MEDGEN:373230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:608996", source="MESH:C563816", source="OMIM:608996"} ! inherited primary ovarian failure
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="MONDO:mim2gene_medgen"} ! FOXL2

[Term]
id: MONDO:0012170
name: autosomal recessive nonsyndromic hearing loss 36
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 36" NARROW [DOID:0110494]
synonym: "autosomal recessive nonsyndromic deafness 36" NARROW [OMIM:609006]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESPN" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 36" NARROW [DOID:0110494, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 36" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal dominant, without vestibular involvement" NARROW [OMIM:609006]
synonym: "deafness, autosomal recessive 36" NARROW [OMIM:609006, OMIM:genemap2]
synonym: "deafness, autosomal recessive 36, with or without vestibular involvement" NARROW [MONDO:Lexical, OMIM:609006]
synonym: "deafness, neurosensory, without vestibular involvement, autosomal dominant" EXACT []
synonym: "DFNB36" NARROW ABBREVIATION [DOID:0110494, MONDO:Lexical, OMIM:609006]
synonym: "ESPN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110494 {source="MONDO:equivalentTo"}
xref: GARD:22611 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110494"}
xref: MEDGEN:324662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563815 {source="MONDO:equivalentTo"}
xref: OMIM:609006 {source="MONDO:equivalentTo", source="DOID:0110494"}
xref: UMLS:C1837007 {source="MEDGEN:324662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:609006", source="DOID:0110494", source="MONDO:Redundant", source="OMIM:609006"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13281 ! ESPN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13281 {source="MONDO:mim2gene_medgen"} ! ESPN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012171
name: marfanoid habitus with situs inversus
synonym: "marfanoid habitus with situs inversus" EXACT [OMIM:609008]
xref: MEDGEN:323046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563814 {source="MONDO:equivalentTo"}
xref: OMIM:609008 {source="MONDO:equivalentTo"}
xref: UMLS:C1836994 {source="MEDGEN:323046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563814/inferred"} ! hereditary disease

[Term]
id: MONDO:0012172
name: mitochondrial trifunctional protein deficiency
def: "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." [Orphanet:746]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:746"}
subset: orphanet_rare {source="Orphanet:746"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial trifunctional PROTEIN deficiency" RELATED [OMIM:609015]
synonym: "mitochondrial trifunctional protein deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609015]
synonym: "MTPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609015]
synonym: "TFP deficiency" EXACT [Orphanet:746]
synonym: "TFPD" EXACT ABBREVIATION [Orphanet:746]
synonym: "trifunctional Protein deficiency" RELATED [OMIM:609015]
synonym: "trifunctional Protein deficiency with myopathy and neuropathy" RELATED [OMIM:609015]
xref: DOID:0111277 {source="MONDO:equivalentTo"}
xref: GARD:3684 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:746/attributed", source="Orphanet:746/ntbt", source="Orphanet:746"}
xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:370665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566945 {source="Orphanet:746", source="MONDO:equivalentTo", source="Orphanet:746/e", source="https://github.com/monarch-initiative/mondo/issues/2212"}
xref: NANDO:1200974 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200515 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201147 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98991 {source="MONDO:equivalentTo"}
xref: OMIMPS:609015 {source="MONDO:equivalentTo"}
xref: Orphanet:746 {source="MONDO:equivalentTo", source="OMIM:609015"}
xref: SCTID:237999008 {source="MONDO:equivalentTo"}
xref: UMLS:C1969443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370665"}
is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98991"} ! inherited lipid metabolism disorder
is_a: MONDO:0009637 {source="Orphanet:746"} ! inborn mitochondrial myopathy
relationship: excluded_subClassOf MONDO:0012173 {source="https://orcid.org/0000-0001-5208-3432"} ! long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609015"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency" xsd:anyURI {source="GARD:0003684"}

[Term]
id: MONDO:0012173
name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
def: "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." [Orphanet:5]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:5"}
subset: orphanet_rare {source="Orphanet:5"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-hydroxyacyl-CoA dehydrogenase long chain deficiency" RELATED [GARD:0006867]
synonym: "fatty liver, acute, of pregnancy" EXACT [OMIM:609016, OMIM:genemap2]
synonym: "HELLP syndrome, maternal, of pregnancy" EXACT [OMIM:609016, OMIM:genemap2]
synonym: "LCHAD deficiency" EXACT [OMIM:609016, Orphanet:5]
synonym: "LCHADD" EXACT ABBREVIATION [Orphanet:5]
synonym: "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL []
synonym: "long-chain 3-hydroxy acyl CoA dehydrogenase deficiency" RELATED [GARD:0006867]
synonym: "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:609016]
synonym: "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:5]
synonym: "long-chain 3-OH acyl-CoA dehydrogenase deficiency" RELATED [GARD:0006867]
synonym: "trifunctional protein deficiency type 1" RELATED [GARD:0006867]
xref: GARD:6867 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:5", source="Orphanet:5/attributed", source="Orphanet:5/ntbt"}
xref: MEDGEN:778253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129929 {source="MONDO:equivalentTo"}
xref: OMIM:609016 {source="Orphanet:5", source="MONDO:equivalentTo", source="Orphanet:5/e"}
xref: Orphanet:5 {source="MONDO:equivalentTo", source="OMIM:609016"}
xref: SCTID:726021008 {source="MONDO:equivalentTo"}
xref: UMLS:C3711645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:778253"}
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: excluded_subClassOf MONDO:0017715 {source="Orphanet:5", source="https://orcid.org/0000-0001-5208-3432"} ! 3-hydroxyacyl-CoA dehydrogenase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4801 {source="MONDO:mim2gene_medgen"} ! HADHA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012174
name: peripheral cone dystrophy
synonym: "peripheral cone dystrophy" EXACT [OMIM:609021]
xref: MEDGEN:323031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563813 {source="MONDO:equivalentTo"}
xref: OMIM:609021 {source="MONDO:equivalentTo"}
xref: UMLS:C1836946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323031"}
is_a: MONDO:0003847 {source="MESH:C563813/inferred"} ! hereditary disease

[Term]
id: MONDO:0012175
name: cataract 28
def: "A cataract that has material basis in variation in the region 6p12-q12." [DOID:0110244, PMID:15452352]
synonym: "age-related cortical cataract 1" EXACT [DOID:0110244]
synonym: "ARCC1" EXACT ABBREVIATION [DOID:0110244]
synonym: "cataract 28" EXACT [MONDO:Lexical, OMIM:609026]
synonym: "cataract 28, age-related cortical, susceptibility to" EXACT [OMIM:609026, OMIM:genemap2]
synonym: "cataract type 28" EXACT [DOID:0110244, MONDORULE:2]
synonym: "cataract, age-related cortical, 1" RELATED [OMIM:609026]
synonym: "CTRCT28" EXACT ABBREVIATION [DOID:0110244, MONDO:Lexical, OMIM:609026]
xref: DOID:0110244 {source="MONDO:equivalentTo"}
xref: MEDGEN:373214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563812 {source="MONDO:equivalentTo"}
xref: OMIM:609026 {source="MONDO:equivalentTo", source="DOID:0110244"}
xref: UMLS:C1836942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373214"}
is_a: MONDO:0005129 {source="DOID:0110244", source="MESH:C563812", source="MONDO:DOID", source="OMIM:609026"} ! cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012176
name: Emanuel syndrome
def: "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities." [Orphanet:96170]
subset: gard_rare {source="GARD:9835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96170"}
subset: ordo_malformation_syndrome {source="Orphanet:96170"}
subset: orphanet_rare {source="Orphanet:96170"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Der(22)t(11;22) syndrome" EXACT [Orphanet:96170]
synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:609029, OMIM:genemap2]
synonym: "Emanuel syndrome" EXACT [OMIM:609029]
synonym: "supernumerary der(22) syndrome" EXACT [Orphanet:96170]
synonym: "supernumerary der(22),t(11;22) syndrome" RELATED [GARD:0009835]
synonym: "supernumerary Der(22)T(11" RELATED [OMIM:609029]
xref: GARD:9835 {source="MONDO:GARD"}
xref: ICD10CM:Q92.6 {source="Orphanet:96170", source="Orphanet:96170/attributed", source="Orphanet:96170/ntbt"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:323030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535733 {source="MONDO:equivalentTo", source="Orphanet:96170", source="Orphanet:96170/e"}
xref: NANDO:1200689 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:609029 {source="MONDO:equivalentTo", source="Orphanet:96170", source="Orphanet:96170/e"}
xref: Orphanet:96170 {source="MONDO:equivalentTo", source="OMIM:609029"}
xref: SCTID:702417004 {source="MONDO:equivalentTo"}
xref: UMLS:C1836929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323030"}
is_a: MONDO:0003847 {source="MESH:C535733/inferred", source="Orphanet:96170/inferred"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome" xsd:anyURI {source="GARD:0009835"}

[Term]
id: MONDO:0012177
name: posterior column ataxia-retinitis pigmentosa syndrome
def: "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." [Orphanet:88628]
subset: gard_rare {source="GARD:9898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88628"}
subset: orphanet_rare {source="Orphanet:88628"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia, posterior column, with retinitis pigmentosa" EXACT [OMIM:609033, OMIM:genemap2]
synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" EXACT [Orphanet:88628]
synonym: "AXPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609033]
synonym: "PCARP" EXACT ABBREVIATION [Orphanet:88628]
synonym: "Pcarp" RELATED [OMIM:609033]
synonym: "POSTERIOR column ataxia with retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:609033]
xref: GARD:9898 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:88628", source="Orphanet:88628/attributed", source="Orphanet:88628/ntbt"}
xref: MEDGEN:324636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536343 {source="MONDO:equivalentTo", source="Orphanet:88628", source="Orphanet:88628/e"}
xref: OMIM:609033 {source="MONDO:equivalentTo", source="Orphanet:88628", source="Orphanet:88628/e"}
xref: Orphanet:88628 {source="MONDO:equivalentTo", source="OMIM:609033"}
xref: SCTID:724065003 {source="MONDO:equivalentTo"}
xref: UMLS:C1836916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324636"}
is_a: MONDO:0020046 {source="Orphanet:88628"} ! autosomal recessive degenerative and progressive cerebellar ataxia
is_a: MONDO:0100449 {source="https://clinicalgenome.org/affiliation/40072/"} ! FLVCR1-related retinopathy with or without ataxia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24682 {source="MONDO:mim2gene_medgen"} ! FLVCR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012178
name: intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature
synonym: "intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature" EXACT [OMIM:609037]
synonym: "mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature" RELATED DEPRECATED [OMIM:609037]
xref: MEDGEN:324635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563810 {source="MONDO:equivalentTo"}
xref: OMIM:609037 {source="MONDO:equivalentTo"}
xref: UMLS:C1836915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324635"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012179
name: narcolepsy 3
subset: gard_rare {source="GARD:15447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "narcolepsy 3" EXACT [OMIM:609039]
synonym: "NRCLP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609039]
xref: GARD:15447 {source="MONDO:GARD"}
xref: MEDGEN:332320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609039 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:609039"}
xref: UMLS:C1836907 {source="MEDGEN:332320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016158 {source="DC-OMIM:609039"} ! narcolepsy-cataplexy syndrome
is_a: MONDO:0100554 {source="MONDO:Redundant", source="OMIM:609039"} ! hereditary narcolepsy

[Term]
id: MONDO:0012180
name: arrhythmogenic right ventricular dysplasia 9
def: "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 9" EXACT [DOID:0110077, OMIM:609040]
synonym: "arrhythmogenic right ventricular dysplasia 9" EXACT CLINGEN_LABEL []
synonym: "arrhythmogenic right ventricular dysplasia type 9" EXACT [DOID:0110077, MONDORULE:1]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 9" RELATED [MONDO:Lexical, OMIM:609040]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 9" EXACT [MONDORULE:1, OMIM:609040]
synonym: "ARVC9" EXACT ABBREVIATION [DOID:0110077]
synonym: "ARVD9" EXACT ABBREVIATION [DOID:0110077, MONDO:Lexical, OMIM:609040]
synonym: "familial arrhythmogenic right ventricular dysplasia 9" EXACT [DOID:0110077]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2" EXACT [MONDO:design_pattern]
synonym: "PKP2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110077 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110077"}
xref: MEDGEN:373205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563808 {source="MONDO:equivalentTo"}
xref: OMIM:609040 {source="MONDO:equivalentTo", source="DOID:0110077"}
xref: Orphanet:217656 {source="OMIM:609040"}
xref: UMLS:C1836906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373205"}
is_a: MONDO:0016342 {source="DOID:0110077", source="MESH:C563808", source="MONDO:Redundant", source="OMIM:609040", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9024 ! PKP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9024 {source="MONDO:mim2gene_medgen"} ! PKP2

[Term]
id: MONDO:0012181
name: hereditary spastic paraplegia 27
def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1." [DOID:0110778, PMID:15455396]
subset: gard_rare {source="GARD:16940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101007"}
subset: orphanet_rare {source="Orphanet:101007"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 27" EXACT [DOID:0110778]
synonym: "autosomal recessive spastic paraplegia type 27" EXACT [DOID:0110778]
synonym: "hereditary spastic paraplegia type 27" EXACT [DOID:0110778, MONDORULE:2]
synonym: "spastic paraplegia 27, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609041]
synonym: "SPG27" EXACT ABBREVIATION [DOID:0110778, MONDO:Lexical, OMIM:609041, Orphanet:101007]
xref: DOID:0110778 {source="MONDO:equivalentTo"}
xref: GARD:16940 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110778", source="Orphanet:101007", source="Orphanet:101007/attributed", source="Orphanet:101007/ntbt"}
xref: MEDGEN:373203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563807 {source="MONDO:equivalentTo"}
xref: OMIM:609041 {source="DOID:0110778", source="MONDO:equivalentTo", source="Orphanet:101007", source="Orphanet:101007/e"}
xref: Orphanet:101007 {source="DOID:0110778", source="OMIM:609041", source="MONDO:equivalentTo"}
xref: UMLS:C1836899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373203"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110778", source="MESH:C563807", source="MONDO:Redundant", source="OMIM:609041", source="Orphanet:101007/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012182
name: skeletal dysplasia, rhizomelic, with retinitis pigmentosa
synonym: "skeletal dysplasia, rhizomelic, with retinitis pigmentosa" EXACT [OMIM:609047]
xref: MEDGEN:332318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563806 {source="MONDO:equivalentTo"}
xref: OMIM:609047 {source="MONDO:equivalentTo"}
xref: UMLS:C1836898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332318"}
is_a: MONDO:0003847 {source="MESH:C563806/inferred"} ! hereditary disease

[Term]
id: MONDO:0012183
name: melanoma, cutaneous malignant, susceptibility to, 3
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "CMM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609048]
synonym: "melanoma, cutaneous malignant, 3" EXACT [OMIM:609048, OMIM:genemap2]
synonym: "melanoma, cutaneous malignant, susceptibility to, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609048]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609048]
synonym: "susceptibility to cutaneous malignant melanoma 3" RELATED [OMIM:609048]
xref: MEDGEN:373202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609048 {source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="OMIM:609048"}
xref: UMLS:C1836892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373202"}
is_a: MONDO:0020573 {source="OMIM:609048"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1773 ! CDK4
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:609048", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1773 {source="MONDO:mim2gene_medgen"} ! CDK4
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012184
name: Pierson syndrome
def: "Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." [Orphanet:2670]
subset: gard_rare {source="GARD:9420", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2670"}
subset: ordo_malformation_syndrome {source="Orphanet:2670"}
subset: orphanet_rare {source="Orphanet:2670"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcoria - congenital nephrosis" RELATED [GARD:0009420]
synonym: "microcoria - congenital nephrotic syndrome" RELATED [GARD:0009420]
synonym: "microcoria-congenital nephrosis syndrome" EXACT [DOID:0060852, Orphanet:2670]
synonym: "microcoria-congenital nephrotic syndrome" RELATED [OMIM:609049]
synonym: "Pierson syndrome" EXACT [OMIM:609049]
xref: DOID:0060852 {source="MONDO:equivalentTo"}
xref: GARD:9420 {source="MONDO:GARD"}
xref: ICD10CM:N04.8 {source="DOID:0060852", source="Orphanet:2670/attributed", source="Orphanet:2670/ntbt", source="Orphanet:2670"}
xref: MEDGEN:373199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537185 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"}
xref: NANDO:2200117 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C128145 {source="MONDO:equivalentTo"}
xref: OMIM:609049 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"}
xref: Orphanet:2670 {source="MONDO:equivalentTo", source="DOID:0060852", source="OMIM:609049"}
xref: SCTID:723449004 {source="MONDO:equivalentTo"}
xref: UMLS:C1836876 {source="MEDGEN:373199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002350 {source="NCIT:C128145"} ! familial nephrotic syndrome
is_a: MONDO:0006025 {source="DOID:0060852", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:609049", source="Orphanet:2670"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6487 {source="MONDO:mim2gene_medgen"} ! LAMB2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome" xsd:anyURI {source="GARD:0009420"}

[Term]
id: MONDO:0012185
name: spondylometaphyseal dysplasia, A4 type
subset: gard_rare {source="GARD:458", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168555"}
subset: orphanet_rare {source="Orphanet:168555"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spondylometaphyseal dysplasia A4 type" RELATED [GARD:0000458]
synonym: "spondylometaphyseal dysplasia type A4" RELATED [GARD:0000458]
synonym: "spondylometaphyseal dysplasia, type A4" RELATED [OMIM:609052]
xref: DOID:0112301 {source="MONDO:equivalentTo"}
xref: GARD:458 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:168555/attributed", source="Orphanet:168555/ntbt", source="Orphanet:168555"}
xref: MEDGEN:324620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563803 {source="MONDO:equivalentTo"}
xref: OMIM:609052 {source="Orphanet:168555", source="MONDO:equivalentTo", source="Orphanet:168555/e"}
xref: Orphanet:168555 {source="OMIM:609052", source="MONDO:equivalentTo"}
xref: UMLS:C1836862 {source="MEDGEN:324620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="DC-OMIM:609052", source="Orphanet:168555"} ! spondylometaphyseal dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4" xsd:anyURI {source="GARD:0000458"}

[Term]
id: MONDO:0012186
name: Fanconi anemia complementation group I
def: "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." [NCIT:C129026]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FANCI" EXACT ABBREVIATION [DOID:0111091, MONDO:Lexical, OMIM:609053]
synonym: "Fanconi anaemia complementation group type I" EXACT OMO:0003005 []
synonym: "Fanconi anemia complementation group I" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type I" EXACT [DOID:0111091, MONDORULE:1]
synonym: "Fanconi Anemia, complementation Group 1" RELATED [OMIM:609053]
synonym: "Fanconi anemia, complementation group I" RELATED [MONDO:Lexical, OMIM:609053]
synonym: "Fanconi Anemia, complementation group type 1" EXACT [MONDORULE:1, OMIM:609053]
xref: DOID:0111091 {source="MONDO:equivalentTo"}
xref: GARD:15448 {source="MONDO:GARD"}
xref: MEDGEN:323016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563802 {source="MONDO:equivalentTo"}
xref: NCIT:C129026 {source="MONDO:equivalentTo"}
xref: OMIM:609053 {source="DOID:0111091", source="MONDO:equivalentTo"}
xref: UMLS:C1836861 {source="MONDO:equivalentTo", source="MEDGEN:323016", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:609053", source="DOID:0111091", source="MESH:C563802", source="NCIT:C129026", source="OMIM:609053"} ! Fanconi anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25568 {source="MONDO:mim2gene_medgen"} ! FANCI

[Term]
id: MONDO:0012187
name: Fanconi anemia complementation group J
def: "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." [NCIT:C129027]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FANCJ" EXACT ABBREVIATION [DOID:0111097, MONDO:Lexical, OMIM:609054]
synonym: "Fanconi anaemia complementation group type J" EXACT OMO:0003005 []
synonym: "Fanconi anemia complementation group J" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type J" EXACT [DOID:0111097, MONDORULE:1]
synonym: "Fanconi anemia, complementation group J" RELATED [MONDO:Lexical, OMIM:609054]
synonym: "Fanconi Anemia, complementation group type J" EXACT [MONDORULE:1, OMIM:609054]
xref: DOID:0111097 {source="MONDO:equivalentTo"}
xref: GARD:15449 {source="MONDO:GARD"}
xref: MEDGEN:323015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563801 {source="MONDO:equivalentTo"}
xref: NCIT:C129027 {source="MONDO:equivalentTo"}
xref: OMIM:609054 {source="MONDO:equivalentTo", source="DOID:0111097"}
xref: UMLS:C1836860 {source="MEDGEN:323015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:609054", source="DOID:0111097", source="MESH:C563801", source="NCIT:C129027", source="OMIM:609054"} ! Fanconi anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20473 {source="MONDO:mim2gene_medgen"} ! BRIP1

[Term]
id: MONDO:0012188
name: neuronal ceroid lipofuscinosis 9
def: "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9]
subset: gard_rare {source="GARD:6618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:228357"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 9" RELATED [MONDO:Lexical, OMIM:609055]
synonym: "CLN 9" RELATED [GARD:0006618]
synonym: "CLN9" EXACT ABBREVIATION [DOID:0110733, MONDO:Lexical, OMIM:609055]
synonym: "CLN9 disease" RELATED [Orphanet:228357]
synonym: "neuronal ceroid lipofuscinosis type 9" EXACT [DOID:0110733, MONDORULE:1]
xref: DOID:0110733 {source="MONDO:equivalentTo"}
xref: GARD:6618 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110733", source="Orphanet:228357/attributed", source="Orphanet:228357/ntbt", source="Orphanet:228357"}
xref: MEDGEN:332304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537953 {source="MONDO:equivalentTo"}
xref: OMIM:609055 {source="DOID:0110733", source="Orphanet:228357/e", source="MONDO:equivalentTo", source="Orphanet:228357"}
xref: Orphanet:228357 {source="DOID:0110733", source="MONDO:equivalentTo", source="OMIM:609055"}
xref: Orphanet:79264 {source="OMIM:609055"}
xref: UMLS:C1836841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332304"}
is_a: MONDO:0016295 {source="DOID:0110733", source="MONDO:Redundant", source="OMIM:609055", source="Orphanet:228357/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="Orphanet:228357"} ! juvenile neuronal ceroid lipofuscinosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9" xsd:anyURI {source="GARD:0006618"}

[Term]
id: MONDO:0012189
name: obsolete Amish infantile epilepsy syndrome
comment: Obsoleted in the source ontologies.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018274

[Term]
id: MONDO:0012190
name: epidermolysis bullosa simplex 7, with nephropathy and deafness
subset: gard_rare {source="GARD:17367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300333"}
subset: orphanet_rare {source="Orphanet:300333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermolysis bullosa simplex 7, with nephropathy and deafness" EXACT [OMIM:609057, OMIM:genemap2]
synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" RELATED [OMIM:609057]
synonym: "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333]
synonym: "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333]
xref: GARD:17367 {source="MONDO:GARD"}
xref: MEDGEN:323004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563798 {source="MONDO:equivalentTo"}
xref: OMIM:609057 {source="Orphanet:300333", source="MONDO:equivalentTo", source="Orphanet:300333/e"}
xref: Orphanet:300333 {source="MONDO:equivalentTo", source="OMIM:609057"}
xref: UMLS:C1836823 {source="MEDGEN:323004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="OMIM:609057"} ! epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1630 {source="MONDO:mim2gene_medgen"} ! CD151
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012191
name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
def: "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." [Orphanet:137681]
subset: gard_rare {source="GARD:16949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137681"}
subset: orphanet_rare {source="Orphanet:137681"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 1" RELATED [MONDO:Lexical, OMIM:609060]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in GFM1" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 1" EXACT [MONDORULE:1, OMIM:609060]
synonym: "COXPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609060]
synonym: "GFM1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" EXACT CLINGEN_LABEL []
synonym: "Hepatoencephalopathy due to COXPD1" EXACT [Orphanet:137681]
synonym: "Hepatoencephalopathy, early fatal progressive" RELATED [OMIM:609060]
xref: DOID:0111474 {source="MONDO:equivalentTo"}
xref: GARD:16949 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:137681/attributed", source="Orphanet:137681/ntbt", source="Orphanet:137681"}
xref: MEDGEN:322999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563797 {source="MONDO:equivalentTo"}
xref: NCIT:C125663 {source="MONDO:equivalentTo"}
xref: OMIM:609060 {source="Orphanet:137681/e", source="MONDO:equivalentTo", source="Orphanet:137681"}
xref: Orphanet:137681 {source="OMIM:609060", source="MONDO:equivalentTo"}
xref: SCTID:764962002 {source="MONDO:equivalentTo"}
xref: UMLS:C1836797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322999"}
is_a: MONDO:0000732 {source="DC-OMIM:609060", source="MONDO:Redundant", source="OMIM:609060"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0005066 {source="MESH:C563797/inferred", source="NCIT:C125663", source="Orphanet:137681", source="Orphanet:137681/inferred"} ! metabolic disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13780 {source="MONDO:mim2gene_medgen"} ! GFM1
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13780 {source="MONDO:mim2gene_medgen"} ! GFM1

[Term]
id: MONDO:0012192
name: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
def: "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." [Orphanet:65288]
subset: gard_rare {source="GARD:16670", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65288"}
subset: ordo_malformation_syndrome {source="Orphanet:65288"}
subset: orphanet_rare {source="Orphanet:65288"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes mellitus, permanent neonatal, with cerebellar agenesis" RELATED [OMIM:609069]
synonym: "paca" RELATED [MONDO:Lexical, OMIM:609069]
synonym: "pancreatic and cerebellar agenesis" EXACT [MONDO:Lexical, OMIM:609069, Orphanet:65288]
xref: GARD:16670 {source="MONDO:GARD"}
xref: MEDGEN:332288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563796 {source="MONDO:equivalentTo"}
xref: OMIM:609069 {source="Orphanet:65288/e", source="MONDO:equivalentTo", source="Orphanet:65288"}
xref: Orphanet:65288 {source="MONDO:equivalentTo", source="OMIM:609069"}
xref: UMLS:C1836780 {source="MEDGEN:332288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016391 {source="Orphanet:65288"} ! neonatal diabetes mellitus
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:65288", source="Orphanet:65288/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23734 {source="MONDO:mim2gene_medgen"} ! PTF1A

[Term]
id: MONDO:0012193
name: autosomal dominant limb-girdle muscular dystrophy type 1G
def: "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." [Orphanet:55596]
subset: gard_rare {source="GARD:12531", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:55596"}
subset: orphanet_rare {source="Orphanet:55596"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL" EXACT [MONDO:design_pattern]
synonym: "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD1G" EXACT ABBREVIATION [DOID:0110306, MONDO:Lexical, OMIM:609115, Orphanet:55596]
synonym: "limb-girdle muscular dystrophy type 1G" RELATED [GARD:0012531]
synonym: "limb-girdle muscular dystrophy, type 1G" RELATED [MONDO:Lexical, OMIM:609115]
synonym: "muscular dystrophy limb-girdle type 1G" EXACT [DOID:0110306]
synonym: "muscular dystrophy, limb-girdle, autosomal dominant 3" EXACT [OMIM:609115, OMIM:genemap2]
xref: DOID:0110306 {source="MONDO:equivalentTo"}
xref: GARD:12531 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0110306", source="Orphanet:55596/attributed", source="Orphanet:55596/ntbt", source="Orphanet:55596"}
xref: MEDGEN:322993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563794 {source="MONDO:equivalentTo"}
xref: OMIM:609115 {source="DOID:0110306", source="Orphanet:55596/e", source="MONDO:equivalentTo", source="Orphanet:55596"}
xref: Orphanet:55596 {source="DOID:0110306", source="MONDO:equivalentTo", source="OMIM:609115"}
xref: SCTID:719990003 {source="MONDO:equivalentTo"}
xref: UMLS:C1836765 {source="MEDGEN:322993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015151 {source="DOID:0110306", source="MONDO:Redundant", source="OMIM:609115", source="Orphanet:55596"} ! muscular dystrophy, limb-girdle, autosomal dominant
intersection_of: MONDO:0015151 ! muscular dystrophy, limb-girdle, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5037 ! HNRNPDL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5037 {source="MONDO:mim2gene_medgen"} ! HNRNPDL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012194
name: aneurysm, intracranial berry, 3
subset: gard_rare {source="GARD:18322", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 3" RELATED [MONDO:Lexical, OMIM:609122]
synonym: "ANIB3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609122]
xref: DOID:0080966 {source="MONDO:equivalentTo"}
xref: GARD:18322 {source="MONDO:GARD"}
xref: MEDGEN:332280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563792 {source="MONDO:equivalentTo"}
xref: OMIM:609122 {source="MONDO:equivalentTo"}
xref: Orphanet:231160 {source="OMIM:609122"}
xref: UMLS:C1836757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332280"}
is_a: MONDO:0016483 {source="DC-OMIM:609122", source="OMIM:609122"} ! intracranial berry aneurysm

[Term]
id: MONDO:0012195
name: arthrogryposis-severe scoliosis syndrome
def: "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." [Orphanet:65720]
subset: gard_rare {source="GARD:16672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65720"}
subset: ordo_malformation_syndrome {source="Orphanet:65720"}
subset: orphanet_rare {source="Orphanet:65720"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis with Severe scoliosis" RELATED [OMIM:609128]
synonym: "arthrogryposis, distal, type 2D" RELATED [OMIM:609128]
synonym: "arthrogryposis, distal, type 4" RELATED [MONDO:Lexical, OMIM:609128]
synonym: "DA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609128]
synonym: "distal arthrogryposis type 4" EXACT [Orphanet:65720]
synonym: "distal arthrogryposis type IID" EXACT [Orphanet:65720]
xref: DOID:0111610 {source="MONDO:equivalentTo"}
xref: GARD:16672 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:65720/attributed", source="Orphanet:65720/ntbt", source="Orphanet:65720"}
xref: MEDGEN:373169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563791 {source="MONDO:equivalentTo"}
xref: OMIM:609128 {source="Orphanet:65720", source="MONDO:equivalentTo", source="Orphanet:65720/e"}
xref: Orphanet:65720 {source="MONDO:equivalentTo", source="OMIM:609128"}
xref: SCTID:715575001 {source="MONDO:equivalentTo"}
xref: UMLS:C1836756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373169"}
is_a: MONDO:0019942 {source="DC-OMIM:609128", source="Orphanet:65720"} ! distal arthrogryposis

[Term]
id: MONDO:0012196
name: autosomal dominant auditory neuropathy 1
def: "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18127", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "auditory neuropathy caused by mutation in DIAPH3" EXACT [MONDO:design_pattern]
synonym: "auditory neuropathy, autosomal dominant, 1" RELATED [MONDO:Lexical, OMIM:609129]
synonym: "auditory neuropathy, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:609129]
synonym: "auditory neuropathy, nonsyndromic dominant" RELATED [OMIM:609129]
synonym: "AUNA1" EXACT ABBREVIATION [DOID:0060690, MONDO:Lexical, OMIM:609129]
synonym: "autosomal dominant auditory neuropathy type 1" EXACT [DOID:0060690, MONDORULE:1]
synonym: "DIAPH3 auditory neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonsyndromic dominant auditory neuropathy" EXACT [DOID:0060690]
synonym: "NSDAN" EXACT ABBREVIATION [DOID:0060690]
xref: DOID:0060690 {source="MONDO:equivalentTo"}
xref: GARD:18127 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0060690"}
xref: MEDGEN:322984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563790 {source="MONDO:equivalentTo"}
xref: OMIM:609129 {source="MONDO:equivalentTo", source="DOID:0060690"}
xref: UMLS:C1836743 {source="MEDGEN:322984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DOID:0060690"} ! autosomal dominant nonsyndromic hearing loss
is_a: MONDO:0021944 {source="MONDO:Redundant", source="OMIM:609129"} ! auditory neuropathy
intersection_of: MONDO:0021944 ! auditory neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15480 ! DIAPH3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15480 {source="MONDO:mim2gene_medgen"} ! DIAPH3

[Term]
id: MONDO:0012197
name: idiopathic aplastic anemia
def: "Aplastic anemia without a known cause." [NCIT:C61230]
subset: gard_rare {source="GARD:5836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88"}
subset: orphanet_rare {source="Orphanet:88"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaemia aplastic" RELATED OMO:0003005 []
synonym: "anemia aplastic" RELATED [GARD:0005836]
synonym: "aplastic anaemia" RELATED OMO:0003005 []
synonym: "aplastic anaemia idiopathic" RELATED OMO:0003005 []
synonym: "aplastic anemia" RELATED [OMIM:609135]
synonym: "aplastic anemia idiopathic" RELATED [GARD:0005836]
synonym: "aplastic Anemia, susceptibility to" RELATED [OMIM:609135]
synonym: "idiopathic aplastic aplasia" EXACT [NCIT:C61230]
synonym: "idiopathic bone marrow failure" EXACT [Orphanet:88]
synonym: "secondary aplastic anaemia" RELATED OMO:0003005 []
synonym: "secondary aplastic anemia" RELATED [GARD:0005836]
xref: GARD:5836 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:88", source="Orphanet:88/e"}
xref: ICD10CM:D61.3 {source="MONDO:equivalentTo"}
xref: icd11.foundation:1615519452 {source="Orphanet:88", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:87595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538494 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e"}
xref: NANDO:1200296 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201276 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61230 {source="MONDO:equivalentTo"}
xref: OMIM:609135 {source="Orphanet:88", source="MONDO:equivalentTo", source="Orphanet:88/e"}
xref: Orphanet:88 {source="MONDO:equivalentTo", source="OMIM:609135"}
xref: SCTID:191256002 {source="MONDO:equivalentTo"}
xref: UMLS:C0348890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87595"}
is_a: MONDO:0015610 {source="Orphanet:88"} ! acquired aplastic anemia
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0012198
name: PCWH syndrome
def: "A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." [Orphanet:163746]
subset: gard_rare {source="GARD:17004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163746"}
subset: orphanet_rare {source="Orphanet:163746"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neurologic Waardenburg-Shah syndrome" EXACT [DOID:0090111]
synonym: "PCWH" EXACT ABBREVIATION [DOID:0090111, MONDO:Lexical, OMIM:609136, Orphanet:163746]
synonym: "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease" EXACT [DOID:0090111, MONDO:Lexical, OMIM:609136]
synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT [DOID:0090111, Orphanet:163746]
synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" RELATED [Orphanet:163746]
synonym: "Waardenburg-Shah syndrome, neurologic variant" RELATED [OMIM:609136]
synonym: "WS4 plus" EXACT [Orphanet:163746]
xref: DOID:0090111 {source="MONDO:equivalentTo"}
xref: GARD:17004 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="DOID:0090111", source="Orphanet:163746/attributed", source="Orphanet:163746/ntbt", source="Orphanet:163746"}
xref: MEDGEN:373160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563789 {source="MONDO:equivalentTo"}
xref: NANDO:1200586 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201298 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:609136 {source="Orphanet:163746/e", source="DOID:0090111", source="MONDO:equivalentTo", source="Orphanet:163746"}
xref: Orphanet:163746 {source="DOID:0090111", source="MONDO:equivalentTo", source="OMIM:609136"}
xref: UMLS:C1836727 {source="MEDGEN:373160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0090111", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0019046 {source="Orphanet:163746", source="https://orcid.org/0000-0001-5208-3432"} ! leukodystrophy
relationship: excluded_subClassOf MONDO:0019290 {source="Orphanet:163746", source="https://orcid.org/0000-0001-5208-3432"} ! hypopigmentation of the skin
relationship: excluded_subClassOf MONDO:0020127 {source="Orphanet:163746", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy
relationship: excluded_subClassOf MONDO:0021189 {source="Orphanet:163746", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal motility disease
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:609136", source="Orphanet:163746"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11190 {source="MONDO:mim2gene_medgen"} ! SOX10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0012199
name: posterior polymorphous corneal dystrophy 2
def: "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18213", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COL8A2 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, posterior polymorphous 2" EXACT [OMIM:609140, OMIM:genemap2]
synonym: "corneal dystrophy, POSTERIOR polymorphous, 2" RELATED [MONDO:Lexical, OMIM:609140]
synonym: "corneal dystrophy, posterior polymorphous, type 2" EXACT [MONDORULE:1, OMIM:609140]
synonym: "posterior polymorphous corneal dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern]
synonym: "posterior polymorphous corneal dystrophy type 2" EXACT [DOID:0110856, MONDORULE:1]
synonym: "PPCD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609140]
synonym: "Ppcd2" EXACT [DOID:0110856]
xref: DOID:0110856 {source="MONDO:equivalentTo"}
xref: GARD:18213 {source="MONDO:GARD"}
xref: ICD10CM:H18.50 {source="DOID:0110856"}
xref: MEDGEN:377757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565176 {source="MONDO:equivalentTo"}
xref: OMIM:609140 {source="DOID:0110856", source="MONDO:equivalentTo"}
xref: Orphanet:98973 {source="OMIM:609140"}
xref: UMLS:C1852795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377757"}
is_a: MONDO:0020364 {source="DC-OMIM:609140", source="DOID:0110856", source="MONDO:Redundant", source="OMIM:609140"} ! posterior polymorphous corneal dystrophy
intersection_of: MONDO:0020364 ! posterior polymorphous corneal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2216 ! COL8A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2216 {source="MONDO:mim2gene_medgen"} ! COL8A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012200
name: posterior polymorphous corneal dystrophy 3
def: "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18214", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corneal dystrophy, POSTERIOR polymorphous, 3" RELATED [MONDO:Lexical, OMIM:609141]
synonym: "corneal dystrophy, posterior polymorphous, type 3" EXACT [MONDORULE:1, OMIM:609141]
synonym: "posterior polymorphous corneal dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern]
synonym: "posterior polymorphous corneal dystrophy type 3" EXACT [DOID:0110857, MONDORULE:1]
synonym: "PPCD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609141]
synonym: "Ppcd3" EXACT [DOID:0110857]
synonym: "ZEB1 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110857 {source="MONDO:equivalentTo"}
xref: GARD:18214 {source="MONDO:GARD"}
xref: ICD10CM:H18.50 {source="DOID:0110857"}
xref: MEDGEN:322978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563788 {source="MONDO:equivalentTo"}
xref: OMIM:609141 {source="DOID:0110857", source="MONDO:equivalentTo"}
xref: Orphanet:98973 {source="OMIM:609141"}
xref: UMLS:C1836724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322978"}
is_a: MONDO:0020364 {source="DC-OMIM:609141", source="DOID:0110857", source="MONDO:Redundant", source="OMIM:609141"} ! posterior polymorphous corneal dystrophy
intersection_of: MONDO:0020364 ! posterior polymorphous corneal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11642 ! ZEB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11642 {source="MONDO:mim2gene_medgen"} ! ZEB1

[Term]
id: MONDO:0012201
name: obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum
comment: OMIM merged these.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1702" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011806

[Term]
id: MONDO:0012202
name: malaria, mild, susceptibility to
subset: predisposition
synonym: "malaria, mild, susceptibility to" EXACT [OMIM:609148]
synonym: "Mals" RELATED [OMIM:609148]
synonym: "susceptibility to mild malaria" RELATED [OMIM:609148]
xref: MEDGEN:332274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609148 {source="MONDO:equivalentTo"}
xref: UMLS:C1836721 {source="MEDGEN:332274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19077 {source="MONDO:mim2gene_medgen"} ! NCR3
relationship: predisposes_towards MONDO:0005136 ! malaria

[Term]
id: MONDO:0012203
name: familial hyperthyroidism due to mutations in TSH receptor
def: "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." [Orphanet:424]
subset: gard_rare {source="GARD:2858", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424"}
subset: orphanet_rare {source="Orphanet:424"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial non-immune hyperthyroidism" EXACT [Orphanet:424]
synonym: "hyperthyroidism, congenital Nonautoimmune" RELATED [OMIM:609152]
synonym: "hyperthyroidism, NONAUTOIMMUNE" RELATED [OMIM:609152]
synonym: "hyperthyroidism, Nonautoimmune, autosomal dominant" RELATED [OMIM:609152]
synonym: "Nonautoimmune hyperthyroidism" RELATED [GARD:0002858]
synonym: "resistance to thyroid stimulating hormone" EXACT [Orphanet:424]
synonym: "toxic thyroid hyperplasia, autosomal dominant" RELATED [OMIM:609152]
xref: DOID:0081101 {source="MONDO:equivalentTo"}
xref: GARD:2858 {source="MONDO:GARD"}
xref: ICD10CM:E05.8 {source="Orphanet:424/attributed", source="Orphanet:424/ntbt", source="Orphanet:424"}
xref: MEDGEN:373154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563786 {source="MONDO:equivalentTo"}
xref: OMIM:609152 {source="Orphanet:424", source="MONDO:equivalentTo", source="Orphanet:424/e"}
xref: Orphanet:424 {source="MONDO:equivalentTo", source="OMIM:609152"}
xref: UMLS:C1836706 {source="MONDO:equivalentTo", source="MEDGEN:373154", source="MONDO:MEDGEN"}
is_a: MONDO:0004425 {source="Orphanet:424"} ! hyperthyroidism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12373 {source="MONDO:mim2gene_medgen"} ! TSHR

[Term]
id: MONDO:0012204
name: familial pseudohyperkalemia
def: "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis." [Orphanet:90044]
subset: gard_rare {source="GARD:16785", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90044"}
subset: orphanet_rare {source="Orphanet:90044"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cryohydrocytosis, mild" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia Chiswick" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia East London" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia Falkirk" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia Lille" RELATED [OMIM:609153]
synonym: "pseudohyperkalemia, familial, 2, due to red cell leak" EXACT [OMIM:609153]
synonym: "PSHK2" EXACT ABBREVIATION [OMIM:609153]
xref: GARD:16785 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:90044/attributed", source="Orphanet:90044/ntbt", source="Orphanet:90044"}
xref: icd11.foundation:1653996588 {source="Orphanet:90044", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:324588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563785 {source="MONDO:equivalentTo"}
xref: OMIM:609153 {source="Orphanet:90044", source="MONDO:equivalentTo", source="Orphanet:90044/e"}
xref: Orphanet:90044 {source="MONDO:equivalentTo", source="OMIM:609153"}
xref: SCTID:717254007 {source="MONDO:equivalentTo"}
xref: UMLS:C1836705 {source="MEDGEN:324588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020102 {source="Orphanet:90044"} ! hereditary stomatocytosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 {source="MONDO:mim2gene_medgen"} ! ABCB6

[Term]
id: MONDO:0012205
name: autosomal dominant striatal neurodegeneration type 1
def: "Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia." [OMIM:609161]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609161, Orphanet:228169]
synonym: "ADSD1" EXACT ABBREVIATION [OMIM:609161]
synonym: "autosomal dominant striatal neurodegeneration" RELATED [Orphanet:228169]
synonym: "PDE8B striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "striatal degeneration, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609161]
synonym: "striatal Degeneration, autosomal dominant 1" EXACT [OMIM:609161]
synonym: "striatal degeneration, autosomal dominant 1" EXACT [OMIM:609161]
synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE8B" EXACT [MONDO:design_pattern]
xref: MEDGEN:934775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609161 {source="Orphanet:228169/e", source="MONDO:equivalentTo", source="Orphanet:228169"}
xref: SCTID:725392005 {source="MONDO:equivalentTo"}
xref: UMLS:C4310808 {source="MEDGEN:934775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000211 {source="DC-OMIM:609161", source="MONDO:Redundant", source="OMIM:609161"} ! striatal degeneration, autosomal dominant
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
intersection_of: MONDO:0000211 ! striatal degeneration, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8794 ! PDE8B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8794 {source="MONDO:mim2gene_medgen"} ! PDE8B

[Term]
id: MONDO:0012206
name: spondyloepiphyseal dysplasia with metatarsal shortening
def: "A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies." [Orphanet:137678]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137678"}
subset: orphanet_rare {source="Orphanet:137678"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Czech dysplasia" EXACT [OMIM:609162]
synonym: "Czech dysplasia metatarsal type" EXACT [GARD:0010220]
synonym: "Czech dysplasia, metatarsal type" EXACT [OMIM:609162, Orphanet:137678]
synonym: "pseudorheumatoid dysplasia progressive, with hypoplastic toes" RELATED [GARD:0010220]
synonym: "pseudorheumatoid dysplasia, progressive, with hypoplastic toes" EXACT [OMIM:609162]
synonym: "SED with metatarsal shortening" EXACT [Orphanet:137678]
synonym: "spondyloepiphyseal dysplasia with precocious osteoarthritis" EXACT [OMIM:609162]
xref: GARD:10220 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:137678/attributed", source="Orphanet:137678/ntbt", source="Orphanet:137678"}
xref: MEDGEN:324580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535766 {source="Orphanet:137678", source="MONDO:equivalentTo", source="Orphanet:137678/e"}
xref: NANDO:2201353 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:609162 {source="Orphanet:137678", source="MONDO:equivalentTo", source="Orphanet:137678/e"}
xref: Orphanet:137678 {source="OMIM:609162", source="MONDO:equivalentTo"}
xref: SCTID:720826006 {source="MONDO:equivalentTo"}
xref: UMLS:C1836683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324580"}
is_a: MONDO:0016761 {source="Orphanet:137678"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:137678", source="PMID:31633310"} ! type 2 collagenopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7375" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7387" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10220/czech-dysplasia-metatarsal-type" xsd:anyURI {source="GARD:0010220"}

[Term]
id: MONDO:0012207
name: umbilicus, familial flat
synonym: "flat umbilicus autosomal dominant" RELATED [GARD:0009490]
synonym: "flat umbilicus familial" RELATED [GARD:0009490]
synonym: "flat umbilicus, autosomal dominant" RELATED [OMIM:609164]
synonym: "umbilicus, familial flat" EXACT [OMIM:609164]
xref: MEDGEN:332265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537059 {source="MONDO:equivalentTo"}
xref: OMIM:609164 {source="MONDO:equivalentTo"}
xref: UMLS:C1836682 {source="MEDGEN:332265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial" xsd:anyURI {source="GARD:0009490"}

[Term]
id: MONDO:0012208
name: congenital reticular ichthyosiform erythroderma
subset: gard_rare {source="GARD:17305", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:281190"}
subset: orphanet_rare {source="Orphanet:281190"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aarau disease" RELATED [OMIM:609165]
synonym: "CRIE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609165, Orphanet:281190]
synonym: "erythroderma, ichthyosiform, congenital reticular" RELATED [MONDO:Lexical, OMIM:609165]
synonym: "erythrokeratoderma, reticular" RELATED [OMIM:609165]
synonym: "ichthyosis variegata" EXACT [OMIM:609165, Orphanet:281190]
synonym: "ichthyosis with confetti" EXACT [OMIM:609165, Orphanet:281190]
synonym: "IWC" EXACT ABBREVIATION [Orphanet:281190]
xref: GARD:17305 {source="MONDO:GARD"}
xref: MEDGEN:777141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563781 {source="MONDO:equivalentTo"}
xref: OMIM:609165 {source="Orphanet:281190/e", source="MONDO:equivalentTo", source="Orphanet:281190"}
xref: Orphanet:281190 {source="MONDO:equivalentTo", source="OMIM:609165"}
xref: SCTID:703504006 {source="MONDO:equivalentTo"}
xref: UMLS:C3665704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777141"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
is_a: MONDO:0017266 {source="Orphanet:281190"} ! keratinopathic ichthyosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6413 {source="MONDO:mim2gene_medgen"} ! KRT10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0012209
name: branchiogenic deafness syndrome
def: "Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent." [Orphanet:50815]
subset: gard_rare {source="GARD:16648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50815"}
subset: ordo_malformation_syndrome {source="Orphanet:50815"}
subset: orphanet_rare {source="Orphanet:50815"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BRANCHIOGENIC-deafness syndrome" RELATED [OMIM:609166]
synonym: "MC)garbanC)-Loiselet syndrome" EXACT [Orphanet:50815]
synonym: "Mégarbané-Loiselet syndrome" EXACT [Orphanet:50815]
xref: GARD:16648 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:50815/attributed", source="Orphanet:50815/ntbt", source="Orphanet:50815"}
xref: MEDGEN:322970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563780 {source="MONDO:equivalentTo"}
xref: OMIM:609166 {source="Orphanet:50815/e", source="MONDO:equivalentTo", source="Orphanet:50815"}
xref: Orphanet:50815 {source="MONDO:equivalentTo", source="OMIM:609166"}
xref: SCTID:717944002 {source="MONDO:equivalentTo"}
xref: UMLS:C1836673 {source="MEDGEN:322970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:50815"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:50815", source="Orphanet:50815/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0012210
name: migraine with aura, susceptibility to, 7
subset: predisposition
synonym: "Mgr7" RELATED [OMIM:609179]
synonym: "migraine with aura, susceptibility to, 7" EXACT [OMIM:609179]
synonym: "migraine with aura, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:609179]
xref: MEDGEN:373145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609179 {source="MONDO:equivalentTo"}
xref: UMLS:C1836670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373145"}
is_a: MONDO:0100246 ! migraine with or without aura, susceptibility to

[Term]
id: MONDO:0012211
name: MPDU1-congenital disorder of glycosylation
def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." [Orphanet:79323]
subset: gard_rare {source="GARD:9832", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79323"}
subset: orphanet_rare {source="Orphanet:79323"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type If" EXACT [Orphanet:79323]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1F" RELATED [GARD:0009832]
synonym: "CDG 1F" RELATED [GARD:0009832]
synonym: "CDG If" RELATED [OMIM:609180]
synonym: "CDG syndrome type If" EXACT [Orphanet:79323]
synonym: "CDG-If" EXACT [Orphanet:79323]
synonym: "CDG1F" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609180, Orphanet:79323]
synonym: "CDGIf" EXACT [NCIT:C126872]
synonym: "congenital disorder of glycosylation type 1f" EXACT [Orphanet:79323]
synonym: "congenital disorder of glycosylation type If" EXACT [Orphanet:79323]
synonym: "congenital disorder of glycosylation, type If" RELATED [MONDO:Lexical, OMIM:609180]
synonym: "MPDU1-CDG" EXACT ABBREVIATION [Orphanet:79323]
synonym: "MPDU1-CDG (CDG-If)" RELATED [GARD:0009832]
xref: DOID:0080558 {source="MONDO:equivalentTo"}
xref: GARD:9832 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:79323/attributed", source="Orphanet:79323/ntbt", source="Orphanet:79323"}
xref: MEDGEN:322968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535744 {source="MONDO:equivalentTo"}
xref: NCIT:C126872 {source="MONDO:equivalentTo"}
xref: OMIM:609180 {source="Orphanet:79323/e", source="MONDO:equivalentTo", source="Orphanet:79323"}
xref: Orphanet:79323 {source="OMIM:609180", source="MONDO:equivalentTo"}
xref: SCTID:724096007 {source="MONDO:equivalentTo"}
xref: UMLS:C1836669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322968"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:609180"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535744", source="MONDO:0012211/inferred", source="MONDO:Redundant", source="NCIT:C126872", source="OMIM:609180", source="Orphanet:79323/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017749 {source="Orphanet:79323"} ! disorder of multiple glycosylation
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7207 {source="MONDO:mim2gene_medgen"} ! MPDU1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0012212
name: Loeys-Dietz syndrome 1
def: "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones." [NCIT:C75119]
subset: gard_rare {source="GARD:9458", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aortic aneurysm, familial thoracic 5" RELATED [OMIM:609192]
synonym: "Furlong syndrome" EXACT [OMIM:609192]
synonym: "LDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609192]
synonym: "Loeys-Dietz aortic aneurysm syndrome" RELATED [OMIM:609192]
synonym: "Loeys-Dietz syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609192]
synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR1" EXACT [MONDO:design_pattern]
synonym: "Loeys-Dietz syndrome type 1" EXACT [MONDORULE:1, OMIM:609192]
synonym: "TGFBR1 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070235 {source="MONDO:equivalentTo"}
xref: GARD:9458 {source="MONDO:GARD"}
xref: MEDGEN:1646567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75119 {source="MONDO:equivalentTo"}
xref: OMIM:609192 {source="MONDO:equivalentTo"}
xref: Orphanet:60030 {source="OMIM:609192"}
xref: Orphanet:91387 {source="MONDO:relatedTo", source="OMIM:609192"}
xref: Orphanet:97295 {source="OMIM:609192", source="MONDO:equivalentObsolete"}
xref: UMLS:C4551955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646567"}
is_a: MONDO:0018954 {source="DC-OMIM:609192", source="MONDO:Redundant", source="NCIT:C75119", source="OMIM:609192"} ! Loeys-Dietz syndrome
intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11772 ! TGFBR1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:609192"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11772 {source="MONDO:mim2gene_medgen"} ! TGFBR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012213
name: hereditary spastic paraplegia 26
def: "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." [Orphanet:101006]
subset: gard_rare {source="GARD:9587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101006"}
subset: orphanet_rare {source="Orphanet:101006"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 26" EXACT [DOID:0110777]
synonym: "autosomal recessive spastic paraplegia type 26" EXACT [DOID:0110777]
synonym: "GM2 synthase deficiency" EXACT [DOID:0110777, Orphanet:101006]
synonym: "hereditary spastic paraplegia type 26" EXACT [DOID:0110777, MONDORULE:2]
synonym: "spastic paraplegia 26" RELATED [GARD:0009587]
synonym: "spastic paraplegia 26, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609195]
synonym: "SPG26" EXACT ABBREVIATION [DOID:0110777, MONDO:Lexical, OMIM:609195, Orphanet:101006]
xref: DOID:0110777 {source="MONDO:equivalentTo"}
xref: GARD:9587 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110777", source="Orphanet:101006", source="Orphanet:101006/attributed", source="Orphanet:101006/ntbt"}
xref: MEDGEN:373138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536862 {source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"}
xref: OMIM:609195 {source="DOID:0110777", source="MONDO:equivalentTo", source="Orphanet:101006", source="Orphanet:101006/e"}
xref: Orphanet:101006 {source="DOID:0110777", source="OMIM:609195", source="MONDO:equivalentTo"}
xref: SCTID:726607007 {source="MONDO:equivalentTo"}
xref: UMLS:C1836632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373138"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110777", source="MESH:C536862", source="MONDO:Redundant", source="OMIM:609195", source="Orphanet:101006/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012214
name: glucocorticoid deficiency 3
subset: gard_rare {source="GARD:15450", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial glucocorticoid deficiency 3" RELATED [OMIM:609197]
synonym: "GCCD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609197]
synonym: "glucocorticoid deficiency 2" RELATED [OMIM:609197]
synonym: "glucocorticoid deficiency 2, formerly" RELATED [OMIM:609197]
synonym: "glucocorticoid deficiency 3" EXACT [MONDO:Lexical, OMIM:609197]
xref: GARD:15450 {source="MONDO:GARD"}
xref: MEDGEN:332252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563776 {source="MONDO:equivalentTo"}
xref: OMIM:609197 {source="MONDO:equivalentTo"}
xref: Orphanet:361 {source="OMIM:609197"}
xref: UMLS:C1836621 {source="MEDGEN:332252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008733 {source="OMIM:609197", source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency

[Term]
id: MONDO:0012215
name: myofibrillar myopathy 3
def: "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." [Orphanet:98911]
subset: gard_rare {source="GARD:16871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268129", source="Orphanet:98911", source="Orphanet:266"}
subset: orphanet_rare {source="Orphanet:268129", source="Orphanet:98911", source="Orphanet:266"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant distal myopathy caused by mutation in MYOT" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT [MONDO:0008032]
synonym: "autosomal dominant spheroid body myopathy" RELATED [GARD:0008711]
synonym: "distal myotilinopathy" EXACT [Orphanet:98911]
synonym: "LGMD1" RELATED ABBREVIATION [GARD:0010229, OMIM:159000]
synonym: "LGMD1A" EXACT ABBREVIATION [DOID:0110300, GARD:0010229, MONDO:Lexical, OMIM:159000, Orphanet:266]
synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT [DOID:0110300, Orphanet:266]
synonym: "limb-girdle muscular dystrophy type 1A" RELATED [GARD:0010229]
synonym: "MFM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609200]
synonym: "muscular dystrophy limb-girdle type 1A" EXACT [DOID:0110300]
synonym: "muscular dystrophy, limb-girdle, type 1A" RELATED [MONDO:Lexical, OMIM:159000]
synonym: "muscular dystrophy, proximal, type 1A" RELATED [GARD:0010229, OMIM:159000]
synonym: "myofibrillar myopathy type 3" EXACT [DOID:0080094, MONDORULE:1]
synonym: "myopathy, myofibrillar, 3" RELATED [MONDO:Lexical, OMIM:609200]
synonym: "myopathy, myofibrillar, myotilin-related" RELATED [OMIM:609200]
synonym: "myopathy, myofibrillar, type 3" EXACT [MONDORULE:1, OMIM:609200]
synonym: "myopathy, spheroid body" RELATED [OMIM:182920]
synonym: "MYOT autosomal dominant distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MYOT autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myotilinopathy" EXACT [DOID:0080094, OMIM:609200]
synonym: "proximal muscular dystrophy type 1A" EXACT [DOID:0110300]
synonym: "spheroid body myopathy" EXACT [MONDO:0008448]
xref: DOID:0080094 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0110300 {source="MONDO:equivalentObsolete"}
xref: GARD:16871 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:266/ntbt", source="Orphanet:266/inclusion", source="DOID:0110300", source="Orphanet:266"}
xref: ICD10CM:G71.8 {source="Orphanet:268129", source="Orphanet:98911", source="Orphanet:268129/attributed", source="Orphanet:268129/ntbt", source="Orphanet:98911/attributed", source="Orphanet:98911/ntbt"}
xref: MEDGEN:811509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000598645 {source="MONDO:equivalentTo"}
xref: MESH:C535906 {source="MONDO:equivalentTo"}
xref: MESH:C563775 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:159000 {source="MONDO:equivalentObsolete", source="Orphanet:266/e", source="GARD:0010229", source="DOID:0110300", source="Orphanet:266"}
xref: OMIM:182920 {source="MONDO:equivalentObsolete", source="Orphanet:268129", source="Orphanet:268129/e"}
xref: OMIM:609200 {source="MONDO:equivalentTo", source="Orphanet:98911", source="MONDO:preferredExternal", source="Orphanet:98911/e", source="DOID:0080094"}
xref: Orphanet:266 {source="OMIM:159000", source="MONDO:equivalentTo", source="GARD:0010229", source="DOID:0110300"}
xref: Orphanet:268129 {source="OMIM:182920", source="MONDO:equivalentTo"}
xref: Orphanet:98911 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:609200"}
xref: SCTID:719985001 {source="MONDO:equivalentTo"}
xref: SCTID:765092004 {source="MONDO:equivalentTo"}
xref: SCTID:765196004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C3714934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811509"}
is_a: MONDO:0002921 {source="MESH:C000598645", source="MONDO:Redundant", source="OMIM:182920/inferred"} ! congenital structural myopathy
is_a: MONDO:0005336 {source="DOID:0080094", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy
is_a: MONDO:0015151 {source="DOID:0110300", source="MONDO:Redundant", source="OMIM:159000", source="Orphanet:266"} ! muscular dystrophy, limb-girdle, autosomal dominant
is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:98911"} ! autosomal dominant distal myopathy
is_a: MONDO:0018943 {source="OMIM:182920", source="OMIM:609200", source="Orphanet:268129", source="Orphanet:98911"} ! myofibrillar myopathy
intersection_of: MONDO:0018943 ! myofibrillar myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12399 ! MYOT
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12399 {source="MONDO:mim2gene_medgen"} ! MYOT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6203" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a" xsd:anyURI {source="GARD:0010229"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy" xsd:anyURI {source="GARD:0008711"}

[Term]
id: MONDO:0012216
name: foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397618"}
subset: orphanet_rare {source="Orphanet:397618"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FHONDA syndrome" EXACT [Orphanet:397618]
synonym: "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" EXACT CLINGEN_LABEL []
synonym: "foveal hypoplasia 2" RELATED [MONDO:Lexical, OMIM:609218]
synonym: "foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism" RELATED [OMIM:609218]
synonym: "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" RELATED [OMIM:609218]
synonym: "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" EXACT [OMIM:609218, OMIM:genemap2]
synonym: "foveal hypoplasia type 2" EXACT [MONDORULE:1, OMIM:609218]
synonym: "FVH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609218]
xref: DOID:0070531 {source="MONDO:equivalentTo"}
xref: GARD:17632 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:397618/attributed", source="Orphanet:397618/ntbt", source="Orphanet:397618"}
xref: MEDGEN:814203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563774 {source="MONDO:equivalentTo"}
xref: OMIM:609218 {source="Orphanet:397618/e", source="MONDO:equivalentTo", source="Orphanet:397618"}
xref: Orphanet:397618 {source="OMIM:609218", source="MONDO:equivalentTo"}
xref: UMLS:C3807873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814203"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
is_a: MONDO:0020249 {source="Orphanet:397618"} ! hereditary optic neuropathy
is_a: MONDO:0044203 {source="OMIM:609218"} ! foveal hypoplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32434 {source="MONDO:mim2gene_medgen"} ! SLC38A8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0012217
name: Bruck syndrome 2
def: "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10023", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BRKS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609220]
synonym: "Bruck syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609220]
synonym: "Bruck syndrome caused by mutation in PLOD2" EXACT [MONDO:design_pattern]
synonym: "Bruck syndrome type 2" EXACT [MONDORULE:1, OMIM:609220]
synonym: "osteogenesis imperfecta with congenital Joint contractures" RELATED [OMIM:609220]
synonym: "PLOD2 Bruck syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:10023 {source="MONDO:GARD"}
xref: MEDGEN:373129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537407 {source="MONDO:equivalentTo"}
xref: OMIM:609220 {source="MONDO:equivalentTo"}
xref: Orphanet:2771 {source="OMIM:609220"}
xref: UMLS:C1836602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373129"}
is_a: MONDO:0017195 {source="DC-OMIM:609220", source="MONDO:Redundant"} ! Bruck syndrome
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0017195 ! Bruck syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9082 ! PLOD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9082 {source="MONDO:mim2gene_medgen"} ! PLOD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012218
name: dandy-walker malformation with occipital cephalocele, autosomal dominant
synonym: "ADDWOC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609222]
synonym: "Dandy-Walker malformation with occipital cephalocele, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609222]
xref: MEDGEN:393273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567185 {source="MONDO:equivalentTo"}
xref: OMIM:609222 {source="MONDO:equivalentTo"}
xref: UMLS:C2674987 {source="MONDO:equivalentTo", source="MEDGEN:393273", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012219
name: spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type" EXACT [OMIM:609223]
xref: DOID:0112291 {source="MONDO:equivalentTo"}
xref: MEDGEN:373126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563772 {source="MONDO:equivalentTo"}
xref: OMIM:609223 {source="MONDO:equivalentTo"}
xref: UMLS:C1836584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373126"}
is_a: MONDO:0019667 {source="OMIM:609223", source="https://github.com/monarch-initiative/mondo/issues/962", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia tarda
relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:609223", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia with congenital joint dislocations

[Term]
id: MONDO:0012220
name: Griscelli syndrome type 3
def: "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes." [DOID:0060834, PMID:12148598, PMID:12897212]
subset: gard_rare {source="GARD:9715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79478"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Griscelli disease type 3" RELATED [Orphanet:79478]
synonym: "Griscelli syndrome type 3" EXACT CLINGEN_LABEL []
synonym: "Griscelli syndrome, type 3" RELATED [MONDO:Lexical, OMIM:609227]
synonym: "Griscelli-PruniC)ras syndrome type 3" EXACT [Orphanet:79478]
synonym: "Griscelli-Pruniéras syndrome type 3" EXACT [DOID:0060834]
synonym: "Griscelli-Pruni��ras syndrome type 3" EXACT [DOID:0060834]
synonym: "GS3" EXACT ABBREVIATION [DOID:0060834, MONDO:Lexical, OMIM:609227]
synonym: "hypomelanosis with no immunologic or neurologic manifestations" RELATED [GARD:0009715]
xref: DOID:0060834 {source="MONDO:equivalentTo"}
xref: GARD:9715 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79478/attributed", source="Orphanet:79478/ntbt", source="DOID:0060834", source="Orphanet:79478"}
xref: MEDGEN:373124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537303 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"}
xref: OMIM:609227 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"}
xref: Orphanet:381 {source="OMIM:609227"}
xref: Orphanet:79478 {source="MONDO:equivalentTo", source="DOID:0060834", source="OMIM:609227"}
xref: UMLS:C1836573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373124"}
is_a: MONDO:0018306 {source="DC-OMIM:609227", source="DOID:0060834", source="MONDO:Redundant", source="OMIM:609227", source="Orphanet:79478"} ! Griscelli syndrome
intersection_of: MONDO:0018306 ! Griscelli syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29643 ! MLPH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29643 {source="MONDO:mim2gene_medgen"} ! MLPH
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3" xsd:anyURI {source="GARD:0009715"}

[Term]
id: MONDO:0012221
name: alpha-N-acetylgalactosaminidase deficiency type 1
def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy." [Orphanet:79279]
subset: gard_rare {source="GARD:116", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79279"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [OMIM:609241]
synonym: "alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [GARD:0000116]
synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 3" RELATED [OMIM:609241]
synonym: "N-acetyl-alpha-D-galactosaminidase deficiency type III" RELATED [GARD:0003903]
synonym: "NAGA deficiency type 1" EXACT [Orphanet:79279]
synonym: "NAGA deficiency, type 1" RELATED [GARD:0000116, OMIM:609241]
synonym: "NAGA deficiency, type 3" RELATED [OMIM:609241]
synonym: "neuroaxonal dystrophy, Schindler type" RELATED [GARD:0000116, OMIM:609241]
synonym: "Schindler disease type 1" EXACT [Orphanet:79279]
synonym: "Schindler disease type I" RELATED [GARD:0000116]
synonym: "Schindler disease, type 1" RELATED [OMIM:609241]
synonym: "Schindler disease, type 3" RELATED [OMIM:609241]
synonym: "Schindler disease, type I" RELATED [OMIM:609241]
synonym: "Schindler disease, type III" EXACT [OMIM:609241, OMIM:genemap2]
xref: DOID:0112318 {source="MONDO:equivalentTo"}
xref: GARD:116 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:79279/attributed", source="Orphanet:79279/ntbt", source="Orphanet:79279"}
xref: MEDGEN:373113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200135 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:609241 {source="Orphanet:79279/e", source="GARD:0000116", source="MONDO:equivalentTo", source="GARD:0003903", source="Orphanet:79279"}
xref: Orphanet:3137 {source="OMIM:609241"}
xref: Orphanet:79279 {source="GARD:0000116", source="MONDO:equivalentTo", source="OMIM:609241"}
xref: Orphanet:79281 {source="OMIM:609241", source="MONDO:directSiblingOf"}
xref: UMLS:C1836544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373113"}
is_a: MONDO:0017779 {source="Orphanet:79279"} ! alpha-N-acetylgalactosaminidase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7631 {source="MONDO:mim2gene_medgen"} ! NAGA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012222
name: alpha-N-acetylgalactosaminidase deficiency type 2
def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy." [Orphanet:79280]
subset: gard_rare {source="GARD:9161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79280"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset Alpha-N-acetylgalactosaminidase deficiency" EXACT [Orphanet:79280]
synonym: "Alpha-N-acetylgalactosaminidase deficiency adult onset" RELATED [GARD:0009161]
synonym: "Alpha-N-acetylgalactosaminidase deficiency, adult-onset" RELATED [OMIM:609242]
synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 2" RELATED [OMIM:609242]
synonym: "KANZAKI disease" RELATED [OMIM:609242]
synonym: "Kanzaki disease" EXACT [Orphanet:79280]
synonym: "NAGA deficiency type 2" EXACT [Orphanet:79280]
synonym: "Naga deficiency, type 2" RELATED [OMIM:609242]
synonym: "Schindler disease type 2" EXACT [Orphanet:79280]
synonym: "Schindler disease, type 2" RELATED [OMIM:609242]
xref: DOID:0112319 {source="MONDO:equivalentTo"}
xref: GARD:9161 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:79280/attributed", source="Orphanet:79280/ntbt", source="Orphanet:79280"}
xref: MEDGEN:324539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200136 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:609242 {source="Orphanet:79280", source="MONDO:equivalentTo", source="Orphanet:79280/e"}
xref: Orphanet:3137 {source="OMIM:609242"}
xref: Orphanet:79280 {source="MONDO:equivalentTo", source="OMIM:609242"}
xref: UMLS:C1836522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324539"}
is_a: MONDO:0017779 {source="Orphanet:79280"} ! alpha-N-acetylgalactosaminidase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7631 {source="MONDO:mim2gene_medgen"} ! NAGA

[Term]
id: MONDO:0012223
name: hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate
synonym: "hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate" EXACT [OMIM:609250]
synonym: "Marie Unna-like scalp hypotrichosis" RELATED [OMIM:609250]
xref: MEDGEN:324538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563765 {source="MONDO:equivalentTo"}
xref: OMIM:609250 {source="MONDO:equivalentTo"}
xref: UMLS:C1836521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324538"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012224
name: febrile seizures, familial, 6
synonym: "convulsions, familial febrile, 6" RELATED [OMIM:609253]
synonym: "FEB6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609253]
synonym: "febrile seizures, familial, 6" EXACT [MONDO:Lexical, OMIM:609253]
xref: DOID:0111309 {source="MONDO:equivalentTo"}
xref: MEDGEN:373107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563764 {source="MONDO:equivalentTo"}
xref: OMIM:609253 {source="MONDO:equivalentTo"}
xref: UMLS:C1836518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373107"}
is_a: MONDO:0000032 {source="DC-OMIM:609253", source="OMIM:609253"} ! febrile seizures, familial
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease

[Term]
id: MONDO:0012225
name: Senior-Loken syndrome 5
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IQCB1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SENIOR-Loken syndrome 5" RELATED [OMIM:609254]
synonym: "Senior-Loken syndrome 5" EXACT [MONDO:Lexical, OMIM:609254]
synonym: "Senior-Loken syndrome caused by mutation in IQCB1" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 5" EXACT [MONDORULE:1, OMIM:609254]
synonym: "SLSN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609254]
xref: GARD:15451 {source="MONDO:GARD"}
xref: MEDGEN:332226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563763 {source="MONDO:equivalentTo"}
xref: OMIM:609254 {source="MONDO:equivalentTo"}
xref: Orphanet:3156 {source="OMIM:609254"}
xref: UMLS:C1836517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332226"}
is_a: MONDO:0017842 {source="DC-OMIM:609254", source="MONDO:Redundant", source="OMIM:609254"} ! Senior-Loken syndrome
intersection_of: MONDO:0017842 ! Senior-Loken syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28949 ! IQCB1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:609254"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28949 {source="MONDO:mim2gene_medgen"} ! IQCB1

[Term]
id: MONDO:0012226
name: febrile seizures, familial, 5
synonym: "convulsions, familial febrile, 5" RELATED [OMIM:609255]
synonym: "FEB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609255]
synonym: "febrile seizures, familial, 5" EXACT [MONDO:Lexical, OMIM:609255]
xref: DOID:0111306 {source="MONDO:equivalentTo"}
xref: MEDGEN:322934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563762 {source="MONDO:equivalentTo"}
xref: OMIM:609255 {source="MONDO:equivalentTo"}
xref: UMLS:C1836507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322934"}
is_a: MONDO:0000032 {source="DC-OMIM:609255", source="OMIM:609255"} ! febrile seizures, familial
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease

[Term]
id: MONDO:0012227
name: myopia 7
synonym: "myopia 7" EXACT [MONDO:Lexical, OMIM:609256]
synonym: "MYP7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609256]
xref: MEDGEN:373105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563761 {source="MONDO:equivalentTo"}
xref: OMIM:609256 {source="MONDO:equivalentTo"}
xref: UMLS:C1836506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373105"}
is_a: MONDO:0001384 {source="DC-OMIM:609256", source="MESH:C563761", source="OMIM:609256"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012228
name: myopia 8
synonym: "myopia 8" EXACT [MONDO:Lexical, OMIM:609257]
synonym: "MYP8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609257]
xref: MEDGEN:332223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563760 {source="MONDO:equivalentTo"}
xref: OMIM:609257 {source="MONDO:equivalentTo"}
xref: UMLS:C1836505 {source="MONDO:equivalentTo", source="MEDGEN:332223", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:609257", source="MESH:C563760", source="OMIM:609257"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012229
name: myopia 9
synonym: "myopia 9" EXACT [MONDO:Lexical, OMIM:609258]
synonym: "MYP9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609258]
xref: MEDGEN:332222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563759 {source="MONDO:equivalentTo"}
xref: OMIM:609258 {source="MONDO:equivalentTo"}
xref: UMLS:C1836504 {source="MEDGEN:332222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:609258", source="MESH:C563759", source="OMIM:609258"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012230
name: myopia 10
synonym: "myopia 10" EXACT [MONDO:Lexical, OMIM:609259]
synonym: "MYP10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609259]
xref: MEDGEN:373104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563758 {source="MONDO:equivalentTo"}
xref: OMIM:609259 {source="MONDO:equivalentTo"}
xref: UMLS:C1836503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373104"}
is_a: MONDO:0001384 {source="DC-OMIM:609259", source="MESH:C563758", source="OMIM:609259"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012231
name: Charcot-Marie-Tooth disease type 2A2
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." [Orphanet:99947]
subset: gard_rare {source="GARD:16925", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99947"}
subset: orphanet_rare {source="Orphanet:99947"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [DOID:0110155]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A2" RELATED [Orphanet:99947]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2A2A" EXACT [NCIT:C150646]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2" RELATED [OMIM:609260]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A" RELATED [OMIM:609260]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2" RELATED [MONDO:Lexical, OMIM:609260]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2A" EXACT [OMIM:609260, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A2" RELATED [OMIM:609260]
synonym: "Charcot-Marie-Tooth neuronal type 2A2" EXACT [DOID:0110155]
synonym: "Charcot-Marie-Tooth neuropathy type 2A2" EXACT [DOID:0110155]
synonym: "Charcot-Marie-Tooth neuropathy, type 2A2" RELATED [OMIM:609260]
synonym: "CMT2A2" EXACT ABBREVIATION [DOID:0110155, MONDO:Lexical, OMIM:609260, Orphanet:99947]
synonym: "CMT2A2A" RELATED ABBREVIATION [OMIM:609260]
synonym: "hereditary motor and sensory neuropathy IIA2" EXACT [DOID:0110155]
synonym: "hereditary motor and sensory neuropathy IIa2" RELATED [OMIM:609260]
synonym: "HMSN IIA2" EXACT [DOID:0110155]
synonym: "HMSN IIa2" RELATED [OMIM:609260]
synonym: "HMSN2A2" EXACT ABBREVIATION [DOID:0110155]
synonym: "MFN2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110155 {source="MONDO:equivalentTo"}
xref: GARD:16925 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99947", source="Orphanet:99947/attributed", source="Orphanet:99947/ntbt", source="DOID:0110155"}
xref: MEDGEN:1648317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563757 {source="MONDO:equivalentTo"}
xref: NCIT:C150646 {source="MONDO:equivalentTo"}
xref: OMIM:609260 {source="MONDO:equivalentTo", source="Orphanet:99947", source="DOID:0110155", source="Orphanet:99947/e"}
xref: Orphanet:99947 {source="OMIM:609260", source="MONDO:equivalentTo", source="DOID:0110155"}
xref: SCTID:764850002 {source="MONDO:equivalentTo"}
xref: UMLS:C4721887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648317"}
is_a: MONDO:0015626 {source="DOID:0110155/inferred", source="MESH:C563757", source="MONDO:Redundant", source="NCIT:C150646/inferred", source="OMIM:609260", source="Orphanet:99947/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110155", source="MONDO:Redundant", source="Orphanet:99947"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 ! MFN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 {source="MONDO:mim2gene_medgen"} ! MFN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012232
name: stuttering, familial persistent, 2
synonym: "STUT2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609261]
synonym: "stuttering, familial persistent, 2" EXACT [OMIM:609261]
xref: MEDGEN:332218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563756 {source="MONDO:equivalentTo"}
xref: OMIM:609261 {source="MONDO:equivalentTo"}
xref: UMLS:C1836484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332218"}
is_a: MONDO:0000723 {source="DC-OMIM:609261", source="OMIM:609261"} ! stutter disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012233
name: obsolete Li-Fraumeni syndrome 2
def: "OBSOLETE. Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CHEK2 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609265]
synonym: "Li-Fraumeni syndrome 2" EXACT [MONDO:Lexical, OMIM:609265]
synonym: "Li-Fraumeni syndrome caused by mutation in CHEK2" EXACT [MONDO:design_pattern]
synonym: "Li-Fraumeni syndrome type 2" EXACT [MONDORULE:1, OMIM:609265]
xref: DOID:0111504 {source="MONDO:obsoleteEquivalent"}
xref: GARD:16263 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C563755 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:609265 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:524 {source="OMIM:609265"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6260" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6269" xsd:anyURI
is_obsolete: true
consider: MONDO:0018875

[Term]
id: MONDO:0012234
name: obsolete LFS3
is_obsolete: true
replaced_by: MONDO:0007903

[Term]
id: MONDO:0012235
name: autosomal recessive spinocerebellar ataxia 7
def: "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7]
subset: gard_rare {source="GARD:12232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284324"}
subset: orphanet_rare {source="Orphanet:284324"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spinocerebellar ataxia type 7" EXACT [DOID:0080059, MONDORULE:1, Orphanet:284324]
synonym: "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [GARD:0012232]
synonym: "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [Orphanet:284324]
synonym: "SCAR7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609270, Orphanet:284324]
synonym: "spinocerebellar ataxia autosomal recessive 7" RELATED [GARD:0012232]
synonym: "spinocerebellar ataxia, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:609270]
synonym: "spinocerebellar ataxia, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:609270]
xref: DOID:0080059 {source="MONDO:equivalentTo"}
xref: GARD:12232 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:284324", source="Orphanet:284324/attributed", source="Orphanet:284324/ntbt"}
xref: MEDGEN:324520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563753 {source="MONDO:equivalentTo"}
xref: OMIM:609270 {source="DOID:0080059", source="MONDO:equivalentTo", source="Orphanet:284324", source="Orphanet:284324/e"}
xref: Orphanet:284324 {source="OMIM:609270", source="MONDO:equivalentTo"}
xref: UMLS:C1836474 {source="MEDGEN:324520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="DOID:0080059", source="Orphanet:284324"} ! autosomal recessive cerebellar ataxia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7" xsd:anyURI {source="GARD:0012232"}

[Term]
id: MONDO:0012236
name: keratoconus 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus 4" EXACT [MONDO:Lexical, OMIM:609271]
synonym: "KTCN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609271]
xref: MEDGEN:332217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563752 {source="MONDO:equivalentTo"}
xref: OMIM:609271 {source="MONDO:equivalentTo"}
xref: Orphanet:2335 {source="OMIM:609271"}
xref: UMLS:C1836473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332217"}
is_a: MONDO:0015486 {source="DC-OMIM:609271", source="MESH:C563752", source="OMIM:609271"} ! keratoconus

[Term]
id: MONDO:0012237
name: nemaline myopathy 6
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15452", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KBTBD13 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609273]
synonym: "nemaline myopathy 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609273]
synonym: "nemaline myopathy 6, autosomal dominant" EXACT [DOID:0110935]
synonym: "nemaline myopathy caused by mutation in KBTBD13" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 6" EXACT [DOID:0110935, MONDORULE:1, OMIM:609273]
xref: DOID:0110935 {source="MONDO:equivalentTo"}
xref: GARD:15452 {source="MONDO:GARD"}
xref: MEDGEN:373095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538398 {source="MONDO:equivalentTo"}
xref: OMIM:609273 {source="MONDO:equivalentTo", source="DOID:0110935"}
xref: Orphanet:607 {source="OMIM:609273"}
xref: UMLS:C1836472 {source="MEDGEN:373095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110935", source="MESH:C538398", source="MONDO:Redundant", source="OMIM:609273"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37227 ! KBTBD13
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37227 {source="MONDO:mim2gene_medgen"} ! KBTBD13

[Term]
id: MONDO:0012238
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16498", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PEOA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609283]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:609283]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:609283]
synonym: "progressive external ophthalmoplegia, autosomal dominant 2" RELATED [OMIM:609283]
synonym: "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111517 {source="MONDO:equivalentTo"}
xref: GARD:16498 {source="MONDO:GARD"}
xref: MEDGEN:322925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563750 {source="MONDO:equivalentTo"}
xref: OMIM:609283 {source="MONDO:equivalentTo"}
xref: Orphanet:254892 {source="OMIM:609283"}
xref: UMLS:C1836460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322925"}
is_a: MONDO:0000090 {source="MONDO:0012238/inferred", source="MONDO:Redundant", source="OMIM:609283"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia
intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 ! SLC25A4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 {source="MONDO:mim2gene_medgen"} ! SLC25A4

[Term]
id: MONDO:0012239
name: congenital myopathy 4B, autosomal recessive
def: "Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15453", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEM1" RELATED ABBREVIATION [OMIM:609284]
synonym: "Nem1" RELATED [DOID:0110926, MONDO:Lexical]
synonym: "nemaline myopathy 1" RELATED [MONDO:Lexical, OMIM:609284]
synonym: "nemaline myopathy 1, autosomal dominant or recessive" RELATED [DOID:0110926]
synonym: "nemaline myopathy caused by mutation in TPM3" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 1" RELATED [DOID:0110926, MONDORULE:1, OMIM:609284]
synonym: "TPM3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110926 {source="MONDO:equivalentTo"}
xref: GARD:15453 {source="MONDO:GARD"}
xref: MEDGEN:1840525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538348 {source="MONDO:equivalentTo"}
xref: OMIM:609284 {source="MONDO:equivalentTo", source="DOID:0110926"}
xref: Orphanet:171881 {source="MONDO:relatedTo", source="OMIM:609284"}
xref: Orphanet:607 {source="OMIM:609284"}
xref: UMLS:C5829889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840525"}
is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy
is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110926", source="MESH:C538348", source="MONDO:Redundant", source="OMIM:609284"} ! nemaline myopathy
is_a: MONDO:0019952 {source="OMIM:609284"} ! congenital myopathy
is_a: MONDO:0100108 {comment="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12012 ! TPM3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12012 {source="MONDO:mim2gene_medgen", source="OMIM:609284"} ! TPM3

[Term]
id: MONDO:0012240
name: congenital myopathy 23
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15454", source="MONDO:GARD"}
subset: rare
synonym: "cap myopathy 2" EXACT DEPRECATED [OMIM:609285]
synonym: "CAPM2" EXACT DEPRECATED [OMIM:609285]
synonym: "NEM4" EXACT ABBREVIATION [DOID:0110932, MONDO:Lexical, OMIM:609285]
synonym: "nemaline myopathy 4" EXACT [MONDO:Lexical, OMIM:609285]
synonym: "nemaline myopathy 4, autosomal dominant" EXACT [DOID:0110932]
synonym: "nemaline myopathy caused by mutation in TPM2" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 4" EXACT [DOID:0110932, MONDORULE:1, OMIM:609285]
synonym: "TPM2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110932 {source="MONDO:equivalentTo"}
xref: GARD:15454 {source="MONDO:GARD"}
xref: MEDGEN:324513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538351 {source="MONDO:equivalentTo"}
xref: NCIT:C164225 {source="MONDO:equivalentTo"}
xref: OMIM:609285 {source="DOID:0110932", source="MONDO:equivalentTo"}
xref: Orphanet:171881 {source="MONDO:relatedTo", source="OMIM:609285"}
xref: Orphanet:607 {source="OMIM:609285"}
xref: UMLS:C1836447 {source="MEDGEN:324513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110932", source="MESH:C538351", source="MONDO:Redundant", source="OMIM:609285"} ! nemaline myopathy
is_a: MONDO:0100196 {source="https://clinicalgenome.org/affiliation/40031/"} ! TPM2-related myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12011 ! TPM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12011 {source="MONDO:mim2gene_medgen"} ! TPM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6327" xsd:anyURI

[Term]
id: MONDO:0012241
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16499", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PEOA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609286]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:609286]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:609286]
synonym: "progressive external ophthalmoplegia, autosomal dominant 3" RELATED [OMIM:609286]
synonym: "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111520 {source="MONDO:equivalentTo"}
xref: GARD:16499 {source="MONDO:GARD"}
xref: MEDGEN:373087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563747 {source="MONDO:equivalentTo"}
xref: OMIM:609286 {source="MONDO:equivalentTo"}
xref: Orphanet:254892 {source="OMIM:609286"}
xref: UMLS:C1836439 {source="MEDGEN:373087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000090 {source="MONDO:0012241/inferred", source="MONDO:Redundant", source="OMIM:609286"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia
intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 ! TWNK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 {source="MONDO:mim2gene_medgen"} ! TWNK

[Term]
id: MONDO:0012242
name: syncope, familial vasovagal
synonym: "familial neurocardiogenic syncope" RELATED [GARD:0009502]
synonym: "familial vasovagal syncope" RELATED [GARD:0009502]
synonym: "syncope familial neurocardiogenic" RELATED [GARD:0009502]
synonym: "syncope, familial Neurocardiogenic" RELATED [OMIM:609289]
synonym: "syncope, familial VASOVAGAL" RELATED [MONDO:Lexical, OMIM:609289]
synonym: "VVS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609289]
xref: MEDGEN:373086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536849 {source="MONDO:equivalentTo"}
xref: OMIM:609289 {source="MONDO:equivalentTo"}
xref: UMLS:C1836438 {source="MEDGEN:373086", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012243
name: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
subset: clingen {source="MONDO:CLINGEN"}
synonym: "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" EXACT [OMIM:609296]
synonym: "Bilu syndrome" RELATED [OMIM:609296]
synonym: "Hoffman syndrome" RELATED [OMIM:609296]
xref: MEDGEN:332208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563745 {source="MONDO:equivalentTo"}
xref: OMIM:609296 {source="MONDO:equivalentTo"}
xref: UMLS:C1836437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332208"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012244
name: prostate cancer, hereditary, 5
subset: gard_rare {source="GARD:15455", source="MONDO:GARD"}
subset: rare
synonym: "HPC5" RELATED ABBREVIATION [OMIM:609299]
synonym: "prostate cancer, hereditary, 5" EXACT [OMIM:609299]
synonym: "prostate cancer, hereditary, type 5" EXACT [MONDORULE:1, OMIM:609299]
xref: GARD:15455 {source="MONDO:GARD"}
xref: MEDGEN:373085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563744 {source="MONDO:equivalentTo"}
xref: OMIM:609299 {source="MONDO:equivalentTo"}
xref: Orphanet:1331 {source="OMIM:609299"}
xref: UMLS:C1836436 {source="MEDGEN:373085", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:609299", source="MONDO:0012244/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0012245
name: developmental and epileptic encephalopathy, 3
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15456", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE3" EXACT ABBREVIATION [OMIM:609304]
synonym: "developmental and epileptic encephalopathy 3" EXACT [OMIM:609304, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A22" EXACT [MONDO:design_pattern]
synonym: "EIEE3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609304]
synonym: "epileptic encephalopathy, early infantile, 3" EXACT [MONDO:Lexical, OMIM:609304]
synonym: "epileptic encephalopathy, early infantile, type 3" EXACT [MONDORULE:1, OMIM:609304]
synonym: "SLC25A22 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080440 {source="MONDO:equivalentTo"}
xref: GARD:15456 {source="MONDO:GARD"}
xref: MEDGEN:1801135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609304 {source="MONDO:equivalentTo"}
xref: Orphanet:1935 {source="OMIM:609304"}
xref: UMLS:C5574665 {source="MEDGEN:1801135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:609304", source="MONDO:Redundant", source="OMIM:609304"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19954 ! SLC25A22
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19954 {source="MONDO:mim2gene_medgen"} ! SLC25A22
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012246
name: spinocerebellar ataxia type 26
def: "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." [Orphanet:101112]
subset: gard_rare {source="GARD:9995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101112"}
subset: orphanet_rare {source="Orphanet:101112"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA26" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609306, Orphanet:101112]
synonym: "spinocerebellar ataxia 26" RELATED [MONDO:Lexical, OMIM:609306]
synonym: "spinocerebellar ataxia type 26" EXACT [MONDORULE:2, OMIM:609306]
xref: DOID:0050975 {source="MONDO:equivalentTo"}
xref: GARD:9995 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:101112/attributed", source="Orphanet:101112/ntbt", source="Orphanet:101112"}
xref: MEDGEN:373077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537203 {source="Orphanet:101112", source="MONDO:equivalentTo", source="Orphanet:101112/e"}
xref: OMIM:609306 {source="Orphanet:101112", source="DOID:0050975", source="MONDO:equivalentTo", source="Orphanet:101112/e"}
xref: Orphanet:101112 {source="OMIM:609306", source="MONDO:equivalentTo"}
xref: SCTID:718769009 {source="MONDO:equivalentTo"}
xref: UMLS:C1836395 {source="MONDO:equivalentTo", source="MEDGEN:373077", source="MONDO:MEDGEN"}
is_a: MONDO:0019793 {source="Orphanet:101112"} ! autosomal dominant cerebellar ataxia type III
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3214 {source="MONDO:mim2gene_medgen"} ! EEF2

[Term]
id: MONDO:0012247
name: spinocerebellar ataxia type 27
def: "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." [Orphanet:98764]
subset: gard_rare {source="GARD:9963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98764"}
subset: orphanet_rare {source="Orphanet:98764"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar ataxia autosomal dominant FGF14-related" RELATED [GARD:0009963]
synonym: "cerebellar ataxia, autosomal dominant, Fgf14-related" RELATED [OMIM:609307]
synonym: "SCA27" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609307, Orphanet:98764]
synonym: "spinocerebellar ataxia 27" RELATED [MONDO:Lexical, OMIM:609307]
synonym: "spinocerebellar ataxia type 27" EXACT [MONDORULE:2, OMIM:609307]
xref: DOID:0050976 {source="MONDO:equivalentTo"}
xref: GARD:9963 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:98764/attributed", source="Orphanet:98764/ntbt", source="Orphanet:98764"}
xref: MEDGEN:373075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537204 {source="Orphanet:98764", source="MONDO:equivalentTo", source="Orphanet:98764/e"}
xref: OMIM:609307 {source="Orphanet:98764", source="MONDO:equivalentObsolete", source="DOID:0050976", source="Orphanet:98764/e"}
xref: Orphanet:98764 {source="OMIM:609307", source="MONDO:equivalentTo"}
xref: SCTID:719252002 {source="MONDO:equivalentTo"}
xref: UMLS:C1836383 {source="MEDGEN:373075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:98764"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3671 {source="MONDO:mim2gene_medgen"} ! FGF14

[Term]
id: MONDO:0012248
name: autosomal recessive limb-girdle muscular dystrophy type 2K
def: "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." [Orphanet:86812]
subset: gard_rare {source="GARD:12535", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86812"}
subset: orphanet_rare {source="Orphanet:86812"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1" EXACT [MONDO:design_pattern]
synonym: "LGMD-POMT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "LGMD2K" EXACT ABBREVIATION [DOID:0110297, Orphanet:86812]
synonym: "limb-girdle muscular dystrophy - intellectual disability" RELATED [GARD:0012535]
synonym: "limb-girdle muscular dystrophy type 2K" RELATED [GARD:0012535]
synonym: "limb-girdle muscular dystrophy-intellectual disability syndrome" EXACT [DOID:0110297, Orphanet:86812]
synonym: "MDDGC1" EXACT ABBREVIATION [DOID:0110297, MONDO:Lexical, OMIM:609308]
synonym: "muscular dystrophy limb-girdle type 2K" EXACT [DOID:0110297]
synonym: "muscular dystrophy, limb-girdle, type 2K" RELATED [OMIM:609308]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT [DOID:0110297]
synonym: "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1" EXACT [NCIT:C133730]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" RELATED [MONDO:Lexical, OMIM:609308]
synonym: "POMT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110297 {source="MONDO:equivalentTo"}
xref: GARD:12535 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:86812/inclusion", source="Orphanet:86812", source="DOID:0110297", source="Orphanet:86812/ntbt"}
xref: MEDGEN:332193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C133730 {source="MONDO:equivalentTo"}
xref: OMIM:609308 {source="MONDO:equivalentTo", source="Orphanet:86812", source="DOID:0110297", source="Orphanet:86812/e"}
xref: Orphanet:86812 {source="OMIM:609308", source="MONDO:equivalentTo", source="DOID:0110297"}
xref: SCTID:720523006 {source="MONDO:equivalentTo"}
xref: UMLS:C1836373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332193"}
is_a: MONDO:0000173 {source="OMIM:609308"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110297", source="MONDO:Redundant", source="OMIM:609308", source="Orphanet:86812"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0016184 {source="Orphanet:86812"} ! qualitative or quantitative defects of protein O-mannosyltransferase 1
is_a: MONDO:0020121 {source="DOID:0110297/inferred", source="EFO:0009145/inferred", source="NCIT:C133730", source="OMIM:609308/inferred", source="Orphanet:86812/inferred"} ! muscular dystrophy
is_a: MONDO:0700070 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT1
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9202 ! POMT1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9202 {source="MONDO:mim2gene_medgen"} ! POMT1

[Term]
id: MONDO:0012249
name: Lynch syndrome 2
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15457", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COCA2" RELATED ABBREVIATION [OMIM:609310]
synonym: "colon cancer, familial nonpolyposis, type 2" RELATED [OMIM:609310]
synonym: "colorectal cancer, hereditary nonpolyposis, type 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609310]
synonym: "familial non-polyposis colon cancer type 2" EXACT [NCIT:C6726]
synonym: "Hereditary non-polyposis colon cancer type 2" EXACT [NCIT:C6726]
synonym: "Hereditary nonpolyposis colorectal cancer type 2" EXACT [NCIT:C6726]
synonym: "HNPCC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609310]
synonym: "Lynch 2 syndrome" EXACT [NCIT:C6726]
xref: DOID:0070274 {source="MONDO:equivalentTo"}
xref: GARD:15457 {source="MONDO:GARD"}
xref: MEDGEN:232603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055847 {source="MONDO:equivalentTo"}
xref: NCIT:C6726 {source="MONDO:equivalentTo"}
xref: OMIM:609310 {source="MONDO:equivalentTo"}
xref: Orphanet:144 {source="OMIM:609310"}
xref: UMLS:C1333991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232603"}
is_a: MONDO:0018630 {source="MONDO:Redundant", source="NCIT:C6726/inferred", source="OMIM:609310"} ! hereditary nonpolyposis colon cancer
relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:609310", source="NCIT:C6726", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:609310"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7127 {source="MONDO:mim2gene_medgen"} ! MLH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI

[Term]
id: MONDO:0012250
name: Charcot-Marie-Tooth disease type 4H
def: "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" [Orphanet:99954]
subset: gard_rare {source="GARD:12442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99954"}
subset: orphanet_rare {source="Orphanet:99954"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192]
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 4H" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4H" RELATED [OMIM:609311]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H" RELATED [OMIM:609311]
synonym: "Charcot-Marie-Tooth disease, type 4H" RELATED [GARD:0012442, MONDO:Lexical, OMIM:609311]
synonym: "Charcot-Marie-Tooth neuropathy type 4H" EXACT [DOID:0110192]
synonym: "Charcot-Marie-Tooth neuropathy, type 4H" RELATED [OMIM:609311]
synonym: "CMT4H" EXACT ABBREVIATION [DOID:0110192, MONDO:Lexical, OMIM:609311, Orphanet:99954]
synonym: "FGD4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110192 {source="MONDO:equivalentTo"}
xref: GARD:12442 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99954/attributed", source="Orphanet:99954/ntbt", source="DOID:0110192", source="Orphanet:99954"}
xref: MEDGEN:324487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563740 {source="MONDO:equivalentTo"}
xref: OMIM:609311 {source="DOID:0110192", source="Orphanet:99954", source="MONDO:equivalentTo", source="Orphanet:99954/e"}
xref: Orphanet:99954 {source="DOID:0110192", source="MONDO:equivalentTo", source="OMIM:609311"}
xref: SCTID:715802008 {source="MONDO:equivalentTo"}
xref: UMLS:C1836336 {source="MEDGEN:324487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110192/inferred", source="MESH:C563740", source="MONDO:Redundant", source="OMIM:609311", source="Orphanet:99954/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110192", source="MONDO:Redundant", source="Orphanet:99954"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19125 ! FGD4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19125 {source="MONDO:mim2gene_medgen"} ! FGD4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h" xsd:anyURI {source="GARD:0012442"}

[Term]
id: MONDO:0012251
name: MEDNIK syndrome
def: "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." [Orphanet:171851]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171851"}
subset: orphanet_rare {source="Orphanet:171851"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythrokeratodermia variabilis 3" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851]
synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851]
synonym: "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT [DOID:0060483]
synonym: "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED [MONDO:Lexical, OMIM:609313]
synonym: "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome" EXACT [Orphanet:171851]
synonym: "MEDNIK" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313]
synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT DEPRECATED [DOID:0060483]
synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313]
xref: DOID:0060483 {source="MONDO:equivalentTo"}
xref: GARD:17072 {source="MONDO:GARD"}
xref: MEDGEN:322893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563739 {source="MONDO:equivalentTo"}
xref: OMIM:609313 {source="Orphanet:171851/e", source="DOID:0060483", source="MONDO:equivalentTo", source="Orphanet:171851"}
xref: Orphanet:171851 {source="DOID:0060483", source="MONDO:equivalentTo", source="OMIM:609313"}
xref: SCTID:722035007 {source="MONDO:equivalentTo"}
xref: UMLS:C1836330 {source="MEDGEN:322893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0017762 {source="Orphanet:171851"} ! disorder of copper metabolism
is_a: MONDO:0019270 {source="Orphanet:171851"} ! erythrokeratoderma
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:171851", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/559 {source="MONDO:mim2gene_medgen"} ! AP1S1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012252
name: rhabdoid tumor predisposition syndrome 1
def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18318", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "At/RT" RELATED [OMIM:609322]
synonym: "brain tumor, posterior fossa, of infancy, familial" RELATED [OMIM:609322]
synonym: "familial rhabdoid tumor caused by mutation in SMARCB1" EXACT [MONDO:design_pattern]
synonym: "familial rhabdoid tumour caused by mutation in SMARCB1" EXACT OMO:0003005 []
synonym: "malignant rhabdoid tumor, somatic" RELATED [OMIM:609322]
synonym: "rhabdoid tumor predisposition syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609322]
synonym: "rhabdoid tumor predisposition syndrome type 1" EXACT [MONDORULE:1, OMIM:609322]
synonym: "rhabdoid tumors, somatic" EXACT [OMIM:609322, OMIM:genemap2]
synonym: "rhabdoid tumour predisposition syndrome type 1" EXACT OMO:0003005 []
synonym: "RTPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609322]
synonym: "SMARCB1 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SMARCB1 familial rhabdoid tumour" EXACT OMO:0003005 []
synonym: "teratoid tumor, atypical" RELATED [OMIM:609322]
xref: GARD:18318 {source="MONDO:GARD"}
xref: MEDGEN:322892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563738 {source="MONDO:equivalentTo"}
xref: NCIT:C178393 {source="MONDO:equivalentTo"}
xref: OMIM:609322 {source="MONDO:equivalentTo"}
xref: Orphanet:231108 {source="OMIM:609322"}
xref: Orphanet:69077 {source="OMIM:609322"}
xref: Orphanet:99966 {source="MONDO:relatedTo", source="OMIM:609322"}
xref: UMLS:C1836327 {source="MEDGEN:322892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016473 {source="MONDO:Redundant", source="OMIM:609322", source="Orphanet:231108/btnt"} ! familial rhabdoid tumor
intersection_of: MONDO:0016473 ! familial rhabdoid tumor
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 ! SMARCB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 {source="MONDO:mim2gene_medgen"} ! SMARCB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012253
name: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
def: "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated." [Orphanet:166029]
subset: gard_rare {source="GARD:17015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166029"}
subset: orphanet_rare {source="Orphanet:166029"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" RELATED [OMIM:609324]
xref: GARD:17015 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:166029", source="Orphanet:166029/attributed", source="Orphanet:166029/ntbt"}
xref: MEDGEN:324484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563736 {source="MONDO:equivalentTo"}
xref: OMIM:609324 {source="MONDO:equivalentTo", source="Orphanet:166029", source="Orphanet:166029/e"}
xref: Orphanet:166029 {source="MONDO:equivalentTo", source="OMIM:609324"}
xref: UMLS:C1836315 {source="MEDGEN:324484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016648 {source="Orphanet:166029"} ! multiple epiphyseal dysplasia

[Term]
id: MONDO:0012254
name: multiple epiphyseal dysplasia, with miniepiphyses
def: "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." [Orphanet:166032]
subset: gard_rare {source="GARD:17016", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166032"}
subset: orphanet_rare {source="Orphanet:166032"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epiphyseal dysplasia, multiple, with miniepiphyses" RELATED [OMIM:609325]
xref: GARD:17016 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:166032", source="MONDO:relatedTo", source="Orphanet:166032/attributed", source="Orphanet:166032/ntbt"}
xref: MEDGEN:332176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563735 {source="MONDO:equivalentTo"}
xref: OMIM:609325 {source="Orphanet:166032", source="MONDO:equivalentTo", source="Orphanet:166032/e"}
xref: Orphanet:166032 {source="MONDO:equivalentTo", source="OMIM:609325"}
xref: UMLS:C1836307 {source="MEDGEN:332176", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016648 {source="Orphanet:166032"} ! multiple epiphyseal dysplasia

[Term]
id: MONDO:0012255
name: chromosome 18 pericentric inversion
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 18 pericentric inversion" EXACT [OMIM:609334]
xref: MEDGEN:322886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563734 {source="MONDO:equivalentTo"}
xref: OMIM:609334 {source="MONDO:equivalentTo"}
xref: UMLS:C1836305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322886"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0043678 ! chromosome inversion disorder
intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human)

[Term]
id: MONDO:0012256
name: hereditary spastic paraplegia 28
def: "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." [Orphanet:101008]
subset: gard_rare {source="GARD:16941", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101008"}
subset: orphanet_rare {source="Orphanet:101008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 28" EXACT [DOID:0110779]
synonym: "autosomal recessive spastic paraplegia type 28" EXACT [DOID:0110779]
synonym: "DDHD1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia 28" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia type 28" EXACT [DOID:0110779, MONDORULE:2]
synonym: "spastic paraplegia 28, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609340]
synonym: "SPG28" EXACT ABBREVIATION [DOID:0110779, MONDO:Lexical, OMIM:609340, Orphanet:101008]
xref: DOID:0110779 {source="MONDO:equivalentTo"}
xref: GARD:16941 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110779", source="Orphanet:101008", source="Orphanet:101008/attributed", source="Orphanet:101008/ntbt"}
xref: MEDGEN:332174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563732 {source="MONDO:equivalentTo"}
xref: OMIM:609340 {source="DOID:0110779", source="MONDO:equivalentTo", source="Orphanet:101008", source="Orphanet:101008/e"}
xref: Orphanet:101008 {source="DOID:0110779", source="MONDO:equivalentTo", source="OMIM:609340"}
xref: SCTID:763376002 {source="MONDO:equivalentTo"}
xref: UMLS:C1836295 {source="MEDGEN:332174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110779", source="MONDO:Redundant", source="OMIM:609340", source="Orphanet:101008/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19714 {source="MONDO:mim2gene_medgen"} ! DDHD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0012257
name: Cerebrorenodigital syndrome
subset: gard_rare {source="GARD:15458", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1396"}
subset: rare
synonym: "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula" RELATED [OMIM:609345]
xref: GARD:15458 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1396", source="Orphanet:1396/attributed", source="Orphanet:1396/ntbt"}
xref: MEDGEN:373053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563731 {source="MONDO:equivalentTo"}
xref: OMIM:609345 {source="Orphanet:1396", source="MONDO:equivalentTo", source="Orphanet:1396/e"}
xref: Orphanet:1396 {source="MONDO:equivalentObsolete", source="OMIM:609345"}
xref: UMLS:C1836287 {source="MEDGEN:373053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0019721 {source="Orphanet:1396", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic renal or urinary tract malformation
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:1396", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease

[Term]
id: MONDO:0012258
name: epidermolysis bullosa simplex 2E, with migratory circinate erythema
def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." [https://orcid.org/0000-0001-5208-3432, Orphanet:158681]
subset: gard_rare {source="GARD:16990", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158681"}
subset: orphanet_rare {source="Orphanet:158681"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS-migr" EXACT [Orphanet:158681]
synonym: "epidermolysis bullosa simplex 2E, with migratory circinate erythema" EXACT [OMIM:609352, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex with migratory circinate erythema" EXACT [OMIM:609352]
xref: GARD:16990 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:158681/attributed", source="Orphanet:158681/ntbt", source="Orphanet:158681"}
xref: MEDGEN:324475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563730 {source="MONDO:equivalentTo"}
xref: OMIM:609352 {source="Orphanet:158681/e", source="MONDO:equivalentTo", source="Orphanet:158681"}
xref: Orphanet:158681 {source="MONDO:equivalentTo", source="OMIM:609352"}
xref: SCTID:716700003 {source="MONDO:equivalentTo"}
xref: UMLS:C1836284 {source="MEDGEN:324475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 {source="MONDO:mim2gene_medgen"} ! KRT5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012259
name: colloid cysts of third ventricle
def: "Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening." [https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle]
synonym: "colloid cysts of third ventricle" EXACT [OMIM:609363]
synonym: "neuroepithelial cysts of third ventricle" RELATED [OMIM:609363]
xref: MEDGEN:82744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535966 {source="MONDO:equivalentTo"}
xref: OMIM:609363 {source="MONDO:equivalentTo"}
xref: UMLS:C0266481 {source="MONDO:equivalentTo", source="MEDGEN:82744", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle" xsd:anyURI {source="GARD:0009878"}

[Term]
id: MONDO:0012260
name: cataract 35
def: "A cataract that has material basis in variation in the region 19q13." [DOID:0110261, PMID:15671291]
subset: gard_rare {source="GARD:9492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive congenital nuclear cataract 1" EXACT [DOID:0110261]
synonym: "cataract 35" EXACT [MONDO:Lexical, OMIM:609376]
synonym: "cataract 35, congenital nuclear" EXACT [DOID:0110261]
synonym: "cataract type 35" EXACT [DOID:0110261, MONDORULE:2]
synonym: "cataract, congenital nuclear, autosomal recessive 1" RELATED [OMIM:609376]
synonym: "CATCN1" EXACT ABBREVIATION [DOID:0110261]
synonym: "CTRCT35" EXACT ABBREVIATION [DOID:0110261, MONDO:Lexical, OMIM:609376]
xref: DOID:0110261 {source="MONDO:equivalentTo"}
xref: GARD:9492 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110261"}
xref: MEDGEN:373050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563728 {source="MONDO:equivalentTo"}
xref: OMIM:609376 {source="MONDO:equivalentTo", source="DOID:0110261"}
xref: Orphanet:91492 {source="OMIM:609376"}
xref: Orphanet:98991 {source="OMIM:609376"}
xref: UMLS:C1836272 {source="MEDGEN:373050", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110261", source="MESH:C563728", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:609376"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
is_a: MONDO:0020376 {source="Orphanet:98991/btnt"} ! early-onset nuclear cataract
is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract
is_a: MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt"} ! early-onset zonular cataract

[Term]
id: MONDO:0012261
name: autism, susceptibility to, 6
subset: predisposition
synonym: "autism susceptibility 6" EXACT [OMIM:609378, OMIM:genemap2]
synonym: "autism, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:609378]
synonym: "AUTS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609378]
xref: MEDGEN:324472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609378 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:609378"}
xref: UMLS:C1836271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324472"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012262
name: fibrosis of extraocular muscles, congenital, 3c
subset: gard_rare {source="GARD:15459", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CFEOM3C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609384]
synonym: "Feom4 locus" RELATED [OMIM:609384]
synonym: "fibrosis of extraocular muscles, congenital, 3C" RELATED [MONDO:Lexical, OMIM:609384]
xref: DOID:0081019 {source="MONDO:equivalentTo"}
xref: GARD:15459 {source="MONDO:GARD"}
xref: MEDGEN:412956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567666 {source="MONDO:equivalentTo"}
xref: OMIM:609384 {source="MONDO:equivalentTo"}
xref: Orphanet:45358 {source="OMIM:609384"}
xref: UMLS:C2750404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412956"}
is_a: MONDO:0007614 {source="OMIM:609384", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012263
name: autoimmune disease, susceptibility to, 4
subset: predisposition
synonym: "AIS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609400]
synonym: "autoimmune disease susceptibility locus, chromosome 4-related" RELATED [OMIM:609400]
synonym: "autoimmune disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609400]
synonym: "vitiligo-associated multiple autoimmune disease susceptibility 5" RELATED [OMIM:609400]
xref: MEDGEN:332163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609400 {source="MONDO:equivalentTo"}
xref: Orphanet:247871 {source="OMIM:609400"}
xref: UMLS:C1836258 {source="MEDGEN:332163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:609400"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0007179 {source="OMIM:609400", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: predisposes_towards MONDO:0007179 {source="OMIM:609400"} ! autoimmune disease

[Term]
id: MONDO:0012264
name: preeclampsia/eclampsia 2
subset: gard_rare {source="GARD:18390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PEE2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609402]
synonym: "PREECLAMPSIA/eclampsia 2" RELATED [MONDO:Lexical, OMIM:609402]
xref: GARD:18390 {source="MONDO:GARD"}
xref: MEDGEN:322876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609402 {source="MONDO:equivalentTo"}
xref: Orphanet:275555 {source="OMIM:609402"}
xref: UMLS:C1836257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322876"}
is_a: MONDO:0005081 {source="DC-OMIM:609402", source="OMIM:609402"} ! preeclampsia

[Term]
id: MONDO:0012265
name: preeclampsia/eclampsia 3
subset: gard_rare {source="GARD:18391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PEE3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609403]
synonym: "PREECLAMPSIA/eclampsia 3" RELATED [MONDO:Lexical, OMIM:609403]
xref: GARD:18391 {source="MONDO:GARD"}
xref: MEDGEN:322875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609403 {source="MONDO:equivalentTo"}
xref: Orphanet:275555 {source="OMIM:609403"}
xref: UMLS:C1836256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322875"}
is_a: MONDO:0005081 {source="DC-OMIM:609403", source="OMIM:609403"} ! preeclampsia

[Term]
id: MONDO:0012266
name: preeclampsia/eclampsia 4
def: "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PEE4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609404]
synonym: "preeclampsia caused by mutation in STOX1" EXACT [MONDO:design_pattern]
synonym: "PREECLAMPSIA/eclampsia 4" RELATED [OMIM:609404]
synonym: "preeclampsia/eclampsia 4" EXACT [MONDO:Lexical, OMIM:609404]
synonym: "Preeclampsia/eclampsia type 4" EXACT [MONDORULE:1, OMIM:609404]
synonym: "STOX1 preeclampsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18392 {source="MONDO:GARD"}
xref: MEDGEN:322874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563724 {source="MONDO:equivalentTo"}
xref: OMIM:609404 {source="MONDO:equivalentTo"}
xref: Orphanet:275555 {source="OMIM:609404"}
xref: UMLS:C1836255 {source="MEDGEN:322874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005081 {source="DC-OMIM:609404", source="MESH:C563724", source="MONDO:Redundant", source="OMIM:609404"} ! preeclampsia
intersection_of: MONDO:0005081 ! preeclampsia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23508 ! STOX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23508 {source="MONDO:mim2gene_medgen"} ! STOX1

[Term]
id: MONDO:0012267
name: holoprosencephaly 8
def: "A holoprosencephaly that has material basis in variation in the chromosome region 14q13." [DOID:0110879, PMID:15820313]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "holoprosencephaly 8" EXACT [MONDO:Lexical, OMIM:609408]
synonym: "holoprosencephaly type 8" EXACT [DOID:0110879, MONDORULE:1]
synonym: "HPE8" EXACT ABBREVIATION [DOID:0110879, MONDO:Lexical, OMIM:609408]
xref: DOID:0110879 {source="MONDO:equivalentTo"}
xref: MEDGEN:322873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563723 {source="MONDO:equivalentTo"}
xref: OMIM:609408 {source="DOID:0110879", source="MONDO:equivalentTo"}
xref: Orphanet:2162 {source="OMIM:609408"}
xref: UMLS:C1836254 {source="MONDO:equivalentTo", source="MEDGEN:322873", source="MONDO:MEDGEN"}
is_a: MONDO:0016296 {source="DC-OMIM:609408", source="DOID:0110879", source="MESH:C563723", source="OMIM:609408"} ! holoprosencephaly

[Term]
id: MONDO:0012268
name: AIDS
def: "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "acquired immune deficiency" EXACT [DOID:635, NCIT:C2851]
synonym: "acquired immune deficiency syndrome" RELATED [DOID:635]
synonym: "acquired immunodeficiency disease" EXACT [NCIT:C2851]
synonym: "acquired immunodeficiency syndrome" RELATED [DOID:635]
synonym: "acquired immunodeficiency syndrome, AIDS" EXACT [NCIT:C2851]
synonym: "AIDS" EXACT ABBREVIATION [DOID:635]
synonym: "AIDS, acquired immunodeficiency syndrome" EXACT [NCIT:C2851]
xref: DOID:635 {source="MONDO:equivalentTo", source="EFO:0000765"}
xref: EFO:0000765 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:B20 {source="DOID:635"}
xref: MEDGEN:99 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000163 {source="DOID:635", source="MONDO:equivalentTo", source="EFO:0000765"}
xref: NANDO:2100212 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200809 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2851 {source="DOID:635", source="MONDO:equivalentTo", source="EFO:0000765"}
xref: Orphanet:319269 {source="OMIM:609423"}
xref: SCTID:186705005 {source="DOID:635"}
xref: SCTID:186715004 {source="DOID:635"}
xref: SCTID:234644008 {source="DOID:635"}
xref: SCTID:266201009 {source="DOID:635"}
xref: SCTID:62479008 {source="DOID:635", source="MONDO:equivalentTo", source="EFO:0000765"}
xref: UMLS:C0001175 {source="MEDGEN:99", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003780 {source="NCIT:C2851"} ! T-cell immunodeficiency
is_a: MONDO:0005109 {source="DOID:635", source="EFO:0000765", source="MESH:D000163", source="MONDO:Redundant"} ! HIV infectious disease
intersection_of: MONDO:0003780 ! T-cell immunodeficiency
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12721 ! disease has primary infectious agent Human immunodeficiency virus
relationship: disease_causes_dysfunction_of CL:0000492 ! CD4-positive helper T cell
relationship: disease_has_infectious_agent NCBITaxon:12721 {source="MONDO:Wikidata"} ! Human immunodeficiency virus

[Term]
id: MONDO:0012269
name: chromosome 3q29 microdeletion syndrome
def: "3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features." [Orphanet:65286]
subset: gard_rare {source="GARD:11974", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65286"}
subset: ordo_malformation_syndrome {source="Orphanet:65286"}
subset: orphanet_rare {source="Orphanet:65286"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3q subtelomere deletion syndrome" EXACT [DOID:0060419, Orphanet:65286]
synonym: "3q29 deletion" RELATED [GARD:0011974]
synonym: "3q29 deletion syndrome" RELATED [GARD:0011974]
synonym: "3q29 microdeletion syndrome" EXACT [DOID:0060419]
synonym: "3qter deletion" EXACT [DOID:0060419, Orphanet:65286]
synonym: "chromosome 3q29 deletion syndrome" RELATED [OMIM:609425]
synonym: "chromosome 3q29 microdeletion syndrome, isolated cases" EXACT [OMIM:609425, OMIM:genemap2]
synonym: "Del(3)(q29)" EXACT [Orphanet:65286]
synonym: "microdeletion 3Q29 syndrome" RELATED [OMIM:609425]
synonym: "monosomy 3q29" EXACT [Orphanet:65286]
synonym: "monosomy 3qter" EXACT [Orphanet:65286]
xref: DECIPHER:37 {source="MONDO:equivalentTo"}
xref: DOID:0060419 {source="MONDO:equivalentTo"}
xref: GARD:11974 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:65286/attributed", source="Orphanet:65286/ntbt", source="Orphanet:65286"}
xref: MEDGEN:393265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567184 {source="MONDO:equivalentTo", source="DOID:0060419"}
xref: OMIM:609425 {source="Orphanet:65286/e", source="MONDO:equivalentTo", source="DOID:0060419", source="Orphanet:65286"}
xref: Orphanet:65286 {source="MONDO:equivalentTo", source="DOID:0060419", source="OMIM:609425"}
xref: SCTID:716456000 {source="MONDO:equivalentTo"}
xref: UMLS:C2674949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393265"}
is_a: MONDO:0000761 {source="DC-OMIM:609425", source="DOID:0060419"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016902 {source="Orphanet:65286"} ! partial deletion of the long arm of chromosome 3
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr3q29 ! 3q29 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012270
name: Tukel syndrome
subset: gard_rare {source="GARD:9814", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cfeom-U" RELATED [OMIM:609428]
synonym: "congenital extraocular muscle fibrosis with ulnar hand anomalies" RELATED [GARD:0009814]
synonym: "fibrosis of extraocular muscles, congenital, 4" RELATED [OMIM:609428]
synonym: "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies" RELATED [OMIM:609428]
synonym: "Tukel syndrome" EXACT [OMIM:609428]
xref: DOID:0081021 {source="MONDO:equivalentTo"}
xref: GARD:9814 {source="MONDO:GARD"}
xref: MEDGEN:332153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536925 {source="MONDO:equivalentTo"}
xref: OMIM:609428 {source="MONDO:equivalentTo"}
xref: Orphanet:45358 {source="OMIM:609428"}
xref: UMLS:C1836217 {source="MEDGEN:332153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007614 {source="OMIM:609428", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles

[Term]
id: MONDO:0012271
name: mesoaxial synostotic syndactyly with phalangeal reduction
def: "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." [Orphanet:157801]
subset: gard_rare {source="GARD:10590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157801"}
subset: ordo_morphological_anomaly {source="Orphanet:157801"}
subset: orphanet_rare {source="Orphanet:157801"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MSSD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609432, Orphanet:157801]
synonym: "syndactyly Malik-Percin type" RELATED [GARD:0010590]
synonym: "syndactyly mesoaxial synostotic with phalangeal reduction" RELATED [GARD:0010590]
synonym: "syndactyly type 9" EXACT [Orphanet:157801]
synonym: "syndactyly, Malik-Percin type" EXACT [OMIM:609432, Orphanet:157801]
synonym: "syndactyly, mesoaxial synostotic, with phalangeal reduction" RELATED [MONDO:Lexical, OMIM:609432]
synonym: "syndactyly, type 9" RELATED [OMIM:609432]
xref: GARD:10590 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:157801", source="Orphanet:157801/attributed", source="Orphanet:157801/ntbt"}
xref: ICD10CM:Q70.2 {source="Orphanet:157801", source="Orphanet:157801/attributed", source="Orphanet:157801/ntbt"}
xref: MEDGEN:324459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563721 {source="MONDO:equivalentTo"}
xref: OMIM:609432 {source="MONDO:equivalentTo", source="Orphanet:157801", source="Orphanet:157801/e"}
xref: Orphanet:157801 {source="MONDO:equivalentTo", source="OMIM:609432"}
xref: SCTID:724170007 {source="MONDO:equivalentTo"}
xref: UMLS:C1836206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324459"}
is_a: MONDO:0019530 {source="Orphanet:157801"} ! non-syndromic syndactyly
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/35126 {source="MONDO:mim2gene_medgen"} ! BHLHA9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012272
name: intellectual disability, keratoconus, febrile seizures, and sinoatrial block
synonym: "intellectual disability, keratoconus, febrile seizures, and sinoatrial block" EXACT [OMIM:609438]
synonym: "mental retardation, keratoconus, febrile seizures, and sinoatrial block" RELATED DEPRECATED [OMIM:609438]
xref: MEDGEN:324455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537452 {source="MONDO:equivalentTo"}
xref: OMIM:609438 {source="MONDO:equivalentTo"}
xref: UMLS:C1836202 {source="MEDGEN:324455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block" xsd:anyURI {source="GARD:0010064"}

[Term]
id: MONDO:0012273
name: autosomal recessive nonsyndromic hearing loss 48
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22612", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 48" NARROW [DOID:0110505]
synonym: "autosomal recessive nonsyndromic deafness 48" NARROW [OMIM:609439]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CIB2" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 48" NARROW [DOID:0110505, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 48" EXACT CLINGEN_LABEL []
synonym: "CIB2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 48" NARROW [MONDO:Lexical, OMIM:609439, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 48" NARROW [MONDORULE:2, OMIM:609439]
synonym: "DFNB48" NARROW ABBREVIATION [DOID:0110505, MONDO:Lexical, OMIM:609439]
xref: DOID:0110505 {source="MONDO:equivalentTo"}
xref: GARD:22612 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110505"}
xref: MEDGEN:332149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563720 {source="MONDO:equivalentTo"}
xref: OMIM:609439 {source="DOID:0110505", source="MONDO:equivalentTo"}
xref: UMLS:C1836199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332149"}
is_a: MONDO:0019588 {source="DC-OMIM:609439", source="DOID:0110505", source="MONDO:Redundant", source="OMIM:609439"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 ! CIB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 {source="MONDO:mim2gene_medgen"} ! CIB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012274
name: acromesomelic dysplasia 3
subset: gard_rare {source="GARD:10077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acromesomelic dysplasia 3" EXACT [OMIM:609441, OMIM:genemap2]
synonym: "acromesomelic dysplasia, Demirhan type" EXACT [MONDO:Lexical, OMIM:609441]
synonym: "AMDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609441]
synonym: "chondrodysplasia acromesomelic with genital anomalies" RELATED [GARD:0010077]
synonym: "chondrodysplasia, acromesomelic, with or without genital anomalies" EXACT [OMIM:609441]
xref: DOID:0081237 {source="MONDO:equivalentTo"}
xref: GARD:10077 {source="MONDO:GARD"}
xref: MEDGEN:904735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537913 {source="MONDO:equivalentTo"}
xref: OMIM:609441 {source="GARD:0010077", source="MONDO:equivalentTo"}
xref: UMLS:C4225404 {source="MEDGEN:904735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019696 {source="PMID:31633310"} ! acromesomelic dysplasia
intersection_of: MONDO:0019696 ! acromesomelic dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1077 ! BMPR1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1077 {source="MONDO:mim2gene_medgen"} ! BMPR1B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies" xsd:anyURI {source="GARD:0010077"}

[Term]
id: MONDO:0012275
name: fetal valproate syndrome
def: "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." [Orphanet:1906]
subset: gard_rare {source="GARD:5447", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1141", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1906"}
subset: ordo_malformation_syndrome {source="Orphanet:1906"}
subset: orphanet_rare {source="Orphanet:1906"}
subset: rare
synonym: "fetal valproate syndrome" EXACT [OMIM:609442]
synonym: "fetal valproic acid syndrome" EXACT [DOID:0060471, Orphanet:1906]
synonym: "foetal valproic acid syndrome" EXACT OMO:0003005 []
synonym: "FVS" RELATED ABBREVIATION [GARD:0005447]
synonym: "susceptibility to valproate embryopathy" RELATED [GARD:0005447]
synonym: "valproate embryopathy, susceptibility to" RELATED [OMIM:609442]
synonym: "valproic acid embryopathy" RELATED [GARD:0005447]
xref: DOID:0060471 {source="MONDO:equivalentTo"}
xref: GARD:5447 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:1906", source="Orphanet:1906/ntbt"}
xref: icd11.foundation:1055155432 {source="Orphanet:1906", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10016524 {source="Orphanet:1906", source="Orphanet:1906/e"}
xref: MEDGEN:65922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536525 {source="Orphanet:1906", source="MONDO:equivalentTo", source="Orphanet:1906/e", source="DOID:0060471"}
xref: NCIT:C98930 {source="MONDO:equivalentTo", source="DOID:0060471"}
xref: NORD:1141 {source="MONDO:NORD"}
xref: OMIM:609442 {source="Orphanet:1906", source="MONDO:equivalentTo", source="Orphanet:1906/e", source="DOID:0060471"}
xref: Orphanet:1906 {source="MONDO:equivalentTo", source="OMIM:609442", source="DOID:0060471"}
xref: SCTID:17231009 {source="MONDO:equivalentTo", source="DOID:0060471"}
xref: SCTID:205792006 {source="DOID:0060471"}
xref: UMLS:C0236026 {source="MEDGEN:65922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060471", source="NCIT:C98930"} ! syndromic disease
is_a: MONDO:0016677 {source="https://orcid.org/0000-0002-4142-7153"} ! toxic or drug-related embryofetopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-syndrome" xsd:anyURI {source="GARD:0005447"}

[Term]
id: MONDO:0012276
name: generalized epilepsy-paroxysmal dyskinesia syndrome
def: "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." [Orphanet:79137]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79137"}
subset: orphanet_rare {source="Orphanet:79137"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, generalized, with paroxysmal dyskinesia" RELATED [OMIM:609446]
synonym: "generalised epilepsy and paroxysmal dyskinesia" RELATED OMO:0003005 []
synonym: "generalized epilepsy and paroxysmal dyskinesia" RELATED [MONDO:Lexical, OMIM:609446]
synonym: "GEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609446, Orphanet:79137]
synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy" RELATED OMO:0003005 []
synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" RELATED [OMIM:609446]
synonym: "PNKD3" RELATED ABBREVIATION [OMIM:609446]
xref: DOID:0070442 {source="MONDO:equivalentTo"}
xref: GARD:16704 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:79137/attributed", source="Orphanet:79137/ntbt", source="Orphanet:79137"}
xref: MEDGEN:1801137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563719 {source="MONDO:equivalentTo"}
xref: OMIM:609446 {source="Orphanet:79137/e", source="MONDO:equivalentTo", source="Orphanet:79137"}
xref: Orphanet:79137 {source="MONDO:equivalentTo", source="OMIM:609446"}
xref: UMLS:C5574945 {source="MONDO:equivalentTo", source="MEDGEN:1801137", source="MONDO:MEDGEN"}
is_a: MONDO:0017704 {source="Orphanet:79137"} ! familial partial epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6284 {source="MONDO:mim2gene_medgen"} ! KCNMA1

[Term]
id: MONDO:0012277
name: myofibrillar myopathy 4
def: "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." [Orphanet:98912]
subset: gard_rare {source="GARD:1886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98912"}
subset: orphanet_rare {source="Orphanet:98912"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "late-onset distal myopathy, Markesbery-Griggs type" RELATED [Orphanet:98912]
synonym: "LDB3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MFM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609452]
synonym: "myofibrillar myopathy (disease) caused by mutation in LDB3" EXACT []
synonym: "myofibrillar myopathy type 4" EXACT [DOID:0080095, MONDORULE:1]
synonym: "myopathy, myofibrillar, 4" RELATED [MONDO:Lexical, OMIM:609452]
synonym: "myopathy, myofibrillar, type 4" EXACT [MONDORULE:1, OMIM:609452]
synonym: "ZASP-related myofibrillar myopathy" EXACT [Orphanet:98912]
synonym: "zaspopathy" EXACT [DOID:0080095]
xref: DOID:0080095 {source="MONDO:equivalentTo"}
xref: GARD:1886 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:98912", source="Orphanet:98912/attributed", source="Orphanet:98912/ntbt"}
xref: MEDGEN:1648314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563718 {source="MONDO:equivalentTo"}
xref: OMIM:609452 {source="MONDO:equivalentTo", source="Orphanet:98912", source="Orphanet:98912/e", source="DOID:0080095"}
xref: Orphanet:98912 {source="MONDO:equivalentTo", source="OMIM:609452"}
xref: UMLS:C4721886 {source="MONDO:equivalentTo", source="MEDGEN:1648314", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:0080095", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy
is_a: MONDO:0016108 {source="Orphanet:98912"} ! autosomal dominant distal myopathy
is_a: MONDO:0016190 {source="Orphanet:98912"} ! qualitative or quantitative defects of protein ZASP
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:609452", source="Orphanet:98912"} ! myofibrillar myopathy
intersection_of: MONDO:0018943 ! myofibrillar myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15710 ! LDB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15710 {source="MONDO:mim2gene_medgen"} ! LDB3

[Term]
id: MONDO:0012278
name: supranuclear palsy, progressive, 2
subset: gard_rare {source="GARD:18344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PSNP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609454]
synonym: "supranuclear palsy, progressive, 2" EXACT [MONDO:Lexical, OMIM:609454]
xref: GARD:18344 {source="MONDO:GARD"}
xref: MEDGEN:324446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563717 {source="MONDO:equivalentTo"}
xref: OMIM:609454 {source="MONDO:equivalentTo"}
xref: Orphanet:240071 {source="OMIM:609454"}
xref: Orphanet:683 {source="OMIM:609454"}
xref: UMLS:C1836148 {source="MONDO:equivalentTo", source="MEDGEN:324446", source="MONDO:MEDGEN"}
is_a: MONDO:0019037 {source="OMIM:609454", source="Orphanet:240071/btnt"} ! progressive supranuclear palsy

[Term]
id: MONDO:0012279
name: obsolete congenital muscular dystrophy merosin-positive
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6205" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009690

[Term]
id: MONDO:0012280
name: Goldberg-Shprintzen syndrome
def: "A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." [Orphanet:66629]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:9849", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66629"}
subset: ordo_malformation_syndrome {source="Orphanet:66629"}
subset: orphanet_rare {source="Orphanet:66629"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [DOID:0060481, OMIM:609460]
synonym: "Goldberg-Shprintzen syndrome" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40020/, MONDO:Lexical, OMIM:609460]
synonym: "GOSHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609460, Orphanet:66629]
synonym: "megacolon-microcephaly syndrome" EXACT [Orphanet:66629]
xref: DOID:0060481 {source="MONDO:equivalentTo"}
xref: GARD:9849 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:66629", source="Orphanet:66629/attributed", source="Orphanet:66629/ntbt"}
xref: MEDGEN:332131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537279 {source="MONDO:equivalentTo", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"}
xref: OMIM:609460 {source="MONDO:equivalentTo", source="Orphanet:66629", source="Orphanet:66629/e", source="DOID:0060481"}
xref: Orphanet:66629 {source="MONDO:equivalentTo", source="OMIM:609460", source="DOID:0060481"}
xref: SCTID:717822006 {source="MONDO:equivalentTo"}
xref: UMLS:C1836123 {source="MEDGEN:332131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:66629"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0021189 {source="Orphanet:66629"} ! intestinal motility disease
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66629", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015184", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23419 {source="MONDO:mim2gene_medgen"} ! KIFBP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6456" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0012281
name: obsolete sarcoidosis, early-onset
comment: OMIM merged these.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1703" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008523

[Term]
id: MONDO:0012282
name: Al-Gazali syndrome
def: "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." [https://orcid.org/0000-0001-5208-3432, PMID:10319196]
subset: gard_rare {source="GARD:10054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Al Gazali Al Talabani syndrome" RELATED [GARD:0010054]
synonym: "Al Gazali syndrome" RELATED [GARD:0010054]
synonym: "Al-Gazali syndrome" EXACT [OMIM:609465]
synonym: "eye defects arachnodactyly cardiopathy" RELATED [GARD:0010054]
xref: GARD:10054 {source="MONDO:GARD"}
xref: MEDGEN:373020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536817 {source="MONDO:equivalentTo"}
xref: OMIM:609465 {source="MONDO:equivalentTo", source="Orphanet:2725"}
xref: Orphanet:2725 {source="MONDO:equivalentTo", source="OMIM:609465"}
xref: UMLS:C1836121 {source="MEDGEN:373020", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome" xsd:anyURI {source="GARD:0010054"}

[Term]
id: MONDO:0012283
name: cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
synonym: "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" EXACT [OMIM:609466]
xref: MEDGEN:324442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536427 {source="MONDO:equivalentTo"}
xref: OMIM:609466 {source="MONDO:equivalentTo"}
xref: UMLS:C1836120 {source="MEDGEN:324442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10063/cleft-palate-midfacial-hypoplasia-triangular-facies-and-sensorineural-hearing-loss" xsd:anyURI {source="GARD:0010063"}

[Term]
id: MONDO:0012284
name: nephropathy, progressive, with deafness
synonym: "Alport/focal segmental glomerulosclerosis-like syndrome" RELATED [OMIM:609469]
synonym: "Nede" RELATED [OMIM:609469]
synonym: "nephropathy, progressive, with deafness" EXACT [OMIM:609469]
xref: MEDGEN:322828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563713 {source="MONDO:equivalentTo"}
xref: OMIM:609469 {source="MONDO:equivalentTo"}
xref: UMLS:C1836119 {source="MEDGEN:322828", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012285
name: left ventricular noncompaction 2
subset: gard_rare {source="GARD:15460", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "left ventricular noncompaction 2" EXACT [MONDO:Lexical, OMIM:609470]
synonym: "LVNC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609470]
xref: GARD:15460 {source="MONDO:GARD"}
xref: MEDGEN:322827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609470 {source="MONDO:equivalentTo"}
xref: Orphanet:54260 {source="OMIM:609470"}
xref: UMLS:C1836118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322827"}
is_a: MONDO:0018901 {source="DC-OMIM:609470", source="OMIM:609470"} ! left ventricular noncompaction

[Term]
id: MONDO:0012286
name: myopathy, autophagic vacuolar, infantile-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myopathy, autophagic vacuolar, infantile-onset" EXACT [OMIM:609500]
xref: MEDGEN:419364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609500 {source="MONDO:equivalentTo"}
xref: UMLS:C2931230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419364"}
is_a: MONDO:0010684 ! X-linked myopathy with excessive autophagy

[Term]
id: MONDO:0012287
name: Stickler syndrome, type I, nonsyndromic ocular
comment: Editor note: check this
subset: gard_rare {source="GARD:15461", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "rhegmatogenous retinal detachment, autosomal dominant" RELATED [OMIM:609508]
synonym: "Stickler syndrome, atypical" RELATED [OMIM:609508]
synonym: "Stickler syndrome, type i, nonsyndromic ocular" EXACT [OMIM:609508]
synonym: "Stickler syndrome, type I, predominantly ocular" RELATED [OMIM:609508]
xref: GARD:15461 {source="MONDO:GARD"}
xref: MEDGEN:322820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563709 {source="MONDO:equivalentTo"}
xref: OMIM:609508 {source="MONDO:equivalentTo"}
xref: Orphanet:209867 {source="OMIM:609508"}
xref: Orphanet:828 {source="OMIM:609508"}
xref: Orphanet:90653 {source="OMIM:609508"}
xref: UMLS:C1836080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322820"}
is_a: MONDO:0007160 {source="Orphanet:90653/btnt"} ! Stickler syndrome type 1
is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:609508"} ! Stickler syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1

[Term]
id: MONDO:0012288
name: iridogoniodysgenesis and skeletal anomalies
synonym: "iridogoniodysgenesis and skeletal anomalies" EXACT [OMIM:609515]
xref: MEDGEN:373009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535534 {source="MONDO:equivalentTo"}
xref: OMIM:609515 {source="MONDO:equivalentTo"}
xref: UMLS:C1836074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373009"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_feature MONDO:0011119 {source="https://orcid.org/0000-0002-6601-2165"} ! iridogoniodysgenesis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10058/iridogoniodysgenesis-and-skeletal-anomalies" xsd:anyURI {source="GARD:0010058"}

[Term]
id: MONDO:0012289
name: myofibrillar myopathy 5
def: "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." [Orphanet:171445]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17062", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:171445"}
subset: orphanet_rare {source="Orphanet:171445"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "filaminopathy" EXACT [DOID:0080096]
synonym: "filaminopathy, autosomal dominant" RELATED [OMIM:609524]
synonym: "FLNC myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MFM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609524]
synonym: "muscle filaminopathy" RELATED [Orphanet:171445]
synonym: "myofibrillar myopathy (disease) caused by mutation in FLNC" EXACT []
synonym: "myofibrillar myopathy 5" EXACT CLINGEN_LABEL []
synonym: "myofibrillar myopathy type 5" EXACT [DOID:0080096, MONDORULE:1]
synonym: "myopathy, myofibrillar, 5" RELATED [MONDO:Lexical, OMIM:609524]
synonym: "myopathy, myofibrillar, filamin C-related" RELATED [OMIM:609524]
synonym: "myopathy, myofibrillar, type 5" EXACT [MONDORULE:1, OMIM:609524]
xref: DOID:0080096 {source="MONDO:equivalentTo"}
xref: GARD:17062 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:171445/attributed", source="Orphanet:171445/ntbt", source="Orphanet:171445"}
xref: MEDGEN:372186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537932 {source="MONDO:equivalentTo"}
xref: OMIM:609524 {source="DOID:0080096", source="Orphanet:171445/e", source="MONDO:equivalentTo", source="Orphanet:171445"}
xref: Orphanet:171445 {source="MONDO:equivalentTo", source="OMIM:609524"}
xref: UMLS:C1836050 {source="MONDO:equivalentTo", source="MEDGEN:372186", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:0080096", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy
is_a: MONDO:0016189 {source="Orphanet:171445"} ! qualitative or quantitative defects of filamin C
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:609524", source="Orphanet:171445"} ! myofibrillar myopathy
intersection_of: MONDO:0018943 ! myofibrillar myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 ! FLNC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 {source="MONDO:mim2gene_medgen"} ! FLNC

[Term]
id: MONDO:0012290
name: CEDNIK syndrome
def: "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." [Orphanet:66631]
subset: gard_rare {source="GARD:9940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66631"}
subset: orphanet_rare {source="Orphanet:66631"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CEDNIK syndrome" EXACT CLINGEN_LABEL [OMIM:609528]
synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [DOID:0060337, OMIM:609528]
synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" RELATED [OMIM:609528]
synonym: "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" EXACT [Orphanet:66631]
xref: DOID:0060337 {source="MONDO:equivalentTo"}
xref: GARD:9940 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:66631", source="Orphanet:66631/attributed", source="Orphanet:66631/ntbt"}
xref: MEDGEN:332113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537943 {source="MONDO:equivalentTo", source="DOID:0060337"}
xref: OMIM:609528 {source="Orphanet:66631", source="MONDO:equivalentTo", source="Orphanet:66631/e", source="DOID:0060337"}
xref: Orphanet:66631 {source="OMIM:609528", source="MONDO:equivalentTo", source="DOID:0060337"}
xref: SCTID:722385008 {source="MONDO:equivalentTo"}
xref: UMLS:C1836033 {source="MONDO:equivalentTo", source="MEDGEN:332113", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0017666 {source="Orphanet:66631-generalized-by-cjm", source="Orphanet:66631/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! diffuse palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:66631", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11133 {source="MONDO:mim2gene_medgen"} ! SNAP29
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012291
name: immunoglobulin A deficiency 2
def: "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IgA, selective deficiency of, TACI related" RELATED [GARD:0010198]
synonym: "IgA, selective deficiency of, TACI-related" RELATED [OMIM:609529]
synonym: "IGAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609529]
synonym: "IMMUNOGLOBULIN A deficiency 2" RELATED [OMIM:609529]
synonym: "immunoglobulin a deficiency 2" EXACT [MONDO:Lexical, OMIM:609529]
synonym: "Immunoglobulin a deficiency type 2" EXACT [MONDORULE:1, OMIM:609529]
synonym: "Immunoglobulin A, selective deficiency of, TACI related" RELATED [GARD:0010198]
synonym: "Immunoglobulin A, selective deficiency of, TACI-related" RELATED [OMIM:609529]
synonym: "selective IgA deficiency disease caused by mutation in TNFRSF13B" EXACT [MONDO:design_pattern]
synonym: "TNFRSF13B selective IgA deficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:10198 {source="MONDO:GARD"}
xref: MEDGEN:372182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536291 {source="MONDO:equivalentTo"}
xref: OMIM:609529 {source="MONDO:equivalentTo"}
xref: Orphanet:69127 {source="OMIM:609529"}
xref: UMLS:C1836032 {source="MEDGEN:372182", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001341 {source="DC-OMIM:609529", source="MESH:C536291", source="MONDO:Redundant"} ! selective IgA deficiency disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0001341 ! selective IgA deficiency disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18153 ! TNFRSF13B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18153 {source="MONDO:mim2gene_medgen"} ! TNFRSF13B
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2" xsd:anyURI {source="GARD:0010198"}

[Term]
id: MONDO:0012292
name: hepatitis C virus, susceptibility to
subset: predisposition
synonym: "HCV, resistance to" RELATED [OMIM:609532]
synonym: "HCV, susceptibility to" RELATED [OMIM:609532]
synonym: "Hepatitis C Virus infection, response to therapy of" RELATED [OMIM:609532]
synonym: "Hepatitis C Virus, resistance to" RELATED [OMIM:609532]
synonym: "hepatitis C virus, response to therapy of" EXACT [OMIM:609532, OMIM:genemap2]
synonym: "hepatitis C virus, susceptibility to" EXACT [OMIM:609532]
xref: MEDGEN:322657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609532 {source="MONDO:equivalentTo"}
xref: Orphanet:284102 {source="OMIM:609532"}
xref: UMLS:C1835407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322657"}
is_a: MONDO:0020573 {source="OMIM:609532", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:609532", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0044200 {source="PMID:31953710", source="https://orcid.org/0000-0001-5208-3432"} ! T-B+ severe combined immunodeficiency
relationship: predisposes_towards MONDO:0005231 {source="OMIM:609532"} ! hepatitis C virus infection
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012293
name: autosomal recessive nonsyndromic hearing loss 23
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 23" NARROW [DOID:0110481]
synonym: "autosomal recessive nonsyndromic deafness 23" NARROW [OMIM:609533]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 23" NARROW [DOID:0110481, MONDORULE:2]
synonym: "deafness, autosomal recessive 23" NARROW [MONDO:Lexical, OMIM:609533, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 23" NARROW [MONDORULE:2, OMIM:609533]
synonym: "DFNB23" NARROW ABBREVIATION [DOID:0110481, MONDO:Lexical, OMIM:609533]
synonym: "PCDH15 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110481 {source="MONDO:equivalentTo"}
xref: GARD:22613 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110481"}
xref: MEDGEN:332110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563705 {source="MONDO:equivalentTo"}
xref: OMIM:609533 {source="MONDO:equivalentTo", source="DOID:0110481"}
xref: Orphanet:90636 {source="OMIM:609533"}
xref: UMLS:C1836027 {source="MEDGEN:332110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:609533", source="DOID:0110481", source="MONDO:Redundant", source="OMIM:609533"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14674 ! PCDH15
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14674 {source="MONDO:mim2gene_medgen"} ! PCDH15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012294
name: obsolete drug metabolism, poor, Cyp2C19-related
synonym: "clopidogrel, impaired responsiveness to" EXACT [OMIM:609535, OMIM:genemap2]
synonym: "clopidogrel, poor metabolism of" RELATED [OMIM:609535]
synonym: "drug metabolism, poor, Cyp2C19-related" EXACT [OMIM:609535]
synonym: "mephenytoin poor metabolizer" EXACT [OMIM:609535, OMIM:genemap2]
synonym: "Mephenytoin, poor metabolism of" RELATED [OMIM:609535]
synonym: "omeprazole poor metabolizer" EXACT [OMIM:609535, OMIM:genemap2]
synonym: "Omeprazole, poor metabolism of" RELATED [OMIM:609535]
synonym: "Opremazole, poor metabolism of" RELATED [OMIM:609535]
synonym: "proguanil poor metabolizer" EXACT [OMIM:609535, OMIM:genemap2]
synonym: "Proguanil, poor metabolism of" RELATED [OMIM:609535]
xref: OMIM:609535 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:240935 {source="OMIM:609535"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0012295
name: complement component 5 deficiency
def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." [NCIT:P378]
subset: gard_rare {source="GARD:2191", source="MONDO:GARD"}
subset: rare
synonym: "C5 complement deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C5 deficiency" EXACT [DOID:8158, OMIM:609536]
synonym: "C5D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609536]
synonym: "complement component 5 deficiency" EXACT [MONDO:Lexical, OMIM:609536]
synonym: "complement deficiency caused by mutation in C5" EXACT [MONDO:design_pattern]
synonym: "dysfunction of the fifth component of complement (C5)" RELATED [GARD:0006878]
xref: DOID:8158 {source="MONDO:equivalentTo"}
xref: GARD:2191 {source="MONDO:GARD"}
xref: MEDGEN:91003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200783 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9469 {source="MONDO:equivalentTo", source="DOID:8158"}
xref: OMIM:609536 {source="MONDO:equivalentTo", source="DOID:8158"}
xref: Orphanet:169150 {source="OMIM:609536", source="DOID:8158"}
xref: UMLS:C0343047 {source="MEDGEN:91003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000015 {source="DC-OMIM:609536"} ! classic complement early component deficiency
is_a: MONDO:0003832 {source="DOID:8158", source="MONDO:Redundant", source="NCIT:C9469"} ! complement deficiency
is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
intersection_of: MONDO:0003832 ! complement deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1331 ! C5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1331 {source="MONDO:mim2gene_medgen"} ! C5

[Term]
id: MONDO:0012296
name: lipomyelomeningocele
def: "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome." [Orphanet:268835]
subset: gard_rare {source="GARD:10053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_morphological_anomaly {source="Orphanet:268835"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial lipomyelomeningocele" RELATED [GARD:0010053]
synonym: "lipomyelomeningocele" EXACT [OMIM:609537]
xref: GARD:10053 {source="MONDO:GARD"}
xref: ICD10CM:Q05.9 {source="Orphanet:268835", source="Orphanet:268835/attributed", source="Orphanet:268835/ntbt"}
xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:332109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537030 {source="MONDO:equivalentTo"}
xref: OMIM:609537 {source="MONDO:equivalentTo"}
xref: Orphanet:268835 {source="MONDO:equivalentTo"}
xref: SCTID:104431000119107 {source="MONDO:equivalentTo"}
xref: UMLS:C1836022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332109"}
is_a: MONDO:0018075 {source="https://orcid.org/0000-0002-4142-7153"} ! neural tube defect
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele" xsd:anyURI {source="GARD:0010053"}

[Term]
id: MONDO:0012297
name: spastic paraplegia, optic atropy, and neuropathy
def: "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2." [Orphanet:320406]
subset: gard_rare {source="GARD:17479", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320406"}
subset: orphanet_rare {source="Orphanet:320406"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [DOID:0060491]
synonym: "spastic paraplegia-optic atrophy-neuropathy syndrome" EXACT [Orphanet:320406]
synonym: "SPOAN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609541, Orphanet:320406]
synonym: "SPOAN syndrome" EXACT [MONDO:0012297]
xref: DOID:0060491 {source="MONDO:equivalentTo"}
xref: GARD:17479 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320406", source="Orphanet:320406/attributed", source="Orphanet:320406/ntbt", source="DOID:0060491"}
xref: MEDGEN:324411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563702 {source="MONDO:equivalentTo", source="DOID:0060491"}
xref: OMIM:609541 {source="Orphanet:320406/e", source="MONDO:equivalentTo", source="Orphanet:320406", source="DOID:0060491"}
xref: Orphanet:320406 {source="MONDO:equivalentTo", source="OMIM:609541", source="DOID:0060491"}
xref: UMLS:C1836010 {source="MEDGEN:324411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20716 {source="MONDO:mim2gene_medgen"} ! KLC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012298
name: omphalocele, diaphragmatic hernia, and radial ray defects
synonym: "Gershoni-Baruch syndrome" RELATED [OMIM:609545]
synonym: "omphalocele, diaphragmatic hernia, and radial ray defects" EXACT [OMIM:609545]
xref: MEDGEN:332105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563701 {source="MONDO:equivalentTo"}
xref: OMIM:609545 {source="MONDO:equivalentTo"}
xref: UMLS:C1836007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332105"}
is_a: MONDO:0003847 {source="MESH:C563701/inferred"} ! hereditary disease

[Term]
id: MONDO:0012299
name: nanophthalmos 2
def: "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MFRP nanophthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Nanophthalmia 2" RELATED [OMIM:609549]
synonym: "nanophthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern]
synonym: "nanophthalmos 2" EXACT [MONDO:Lexical, OMIM:609549]
synonym: "nanophthalmos type 2" EXACT [MONDORULE:1, OMIM:609549]
synonym: "nanophthalmos, autosomal recessive" RELATED [OMIM:609549]
synonym: "NNO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609549]
xref: GARD:18626 {source="MONDO:GARD"}
xref: MEDGEN:372177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563700 {source="MONDO:equivalentTo"}
xref: OMIM:609549 {source="MONDO:equivalentTo"}
xref: Orphanet:35612 {source="OMIM:609549"}
xref: UMLS:C1836006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372177"}
is_a: MONDO:0005514 {source="DC-OMIM:609549", source="MONDO:Redundant"} ! nanophthalmia
is_a: MONDO:0021129 {source="MESH:C563700", source="MONDO:Redundant", source="OMIM:609549", source="Orphanet:35612/btnt"} ! microphthalmia
intersection_of: MONDO:0005514 ! nanophthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 ! MFRP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 {source="MONDO:mim2gene_medgen"} ! MFRP

[Term]
id: MONDO:0012300
name: prostate cancer, hereditary, 6
subset: gard_rare {source="GARD:15462", source="MONDO:GARD"}
subset: rare
synonym: "HPC6" RELATED ABBREVIATION [OMIM:609558]
synonym: "prostate cancer, hereditary, 6" EXACT [OMIM:609558]
synonym: "prostate cancer, hereditary, type 6" EXACT [MONDORULE:1, OMIM:609558]
synonym: "prostate cancer, susceptibility to" RELATED [OMIM:609558, OMIM:genemap2]
xref: GARD:15462 {source="MONDO:GARD"}
xref: MEDGEN:322797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563699 {source="MONDO:equivalentTo"}
xref: OMIM:609558 {source="MONDO:equivalentTo"}
xref: UMLS:C1836005 {source="MEDGEN:322797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:609558", source="MONDO:0012300/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012301
name: mitochondrial DNA depletion syndrome, myopathic form
def: "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." [Orphanet:254875]
subset: gard_rare {source="GARD:17228", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254875"}
subset: orphanet_rare {source="Orphanet:254875"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial DNA depletion myopathy, Tk2-related" RELATED [OMIM:609560]
synonym: "mitochondrial DNA depletion syndrome 2" RELATED [DOID:0080120]
synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type)" RELATED [MONDO:Lexical, OMIM:609560]
synonym: "mitochondrial DNA depletion syndrome type 2" EXACT [DOID:0080120, MONDORULE:1]
synonym: "mtDNA depletion syndrome, myopathic form" EXACT [Orphanet:254875]
synonym: "MTDPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609560]
xref: DOID:0080120 {source="MONDO:equivalentTo"}
xref: GARD:17228 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:254875", source="Orphanet:254875/attributed", source="Orphanet:254875/ntbt"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:461100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563698 {source="MONDO:equivalentTo"}
xref: OMIM:609560 {source="DOID:0080120", source="MONDO:equivalentTo", source="Orphanet:254875", source="Orphanet:254875/e"}
xref: Orphanet:254875 {source="MONDO:equivalentTo", source="OMIM:609560"}
xref: SCTID:703527003 {source="MONDO:equivalentTo"}
xref: UMLS:C3149750 {source="MEDGEN:461100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018158 {source="DC-OMIM:609560", source="OMIM:609560", source="Orphanet:254875"} ! mitochondrial DNA depletion syndrome
is_a: MONDO:0019238 {source="Orphanet:254875"} ! inborn disorder of pyrimidine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11831 {source="MONDO:mim2gene_medgen"} ! TK2

[Term]
id: MONDO:0012302
name: parietal foramina 3
subset: gard_rare {source="GARD:18052", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "parietal foramina 3" EXACT [MONDO:Lexical, OMIM:609566]
synonym: "PFM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609566]
xref: GARD:18052 {source="MONDO:GARD"}
xref: MEDGEN:322792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563697 {source="MONDO:equivalentTo"}
xref: OMIM:609566 {source="MONDO:equivalentTo"}
xref: Orphanet:60015 {source="OMIM:609566"}
xref: UMLS:C1835980 {source="MEDGEN:322792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018953 {source="DC-OMIM:609566", source="OMIM:609566"} ! parietal foramina

[Term]
id: MONDO:0012303
name: migraine with or without aura, susceptibility to, 8
subset: predisposition
synonym: "Mgr8" RELATED [OMIM:609570]
synonym: "migraine with or without aura, susceptibility to, 8" EXACT [OMIM:609570]
synonym: "migraine with or without aura, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:609570]
synonym: "migraine, susceptibility to, 8" EXACT [OMIM:609570, OMIM:genemap2]
xref: MEDGEN:332101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609570 {source="MONDO:equivalentTo"}
xref: UMLS:C1835968 {source="MEDGEN:332101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 {source="DC-OMIM:609570", source="OMIM:609570/inferred"} ! migraine with or without aura, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012304
name: photoparoxysmal response 2
subset: gard_rare {source="GARD:15463", source="MONDO:GARD"}
subset: rare
synonym: "photoparoxysmal response 2" EXACT [MONDO:Lexical, OMIM:609572]
synonym: "photoparoxysmal response with or without idiopathic generalised epilepsy" RELATED OMO:0003005 []
synonym: "photoparoxysmal response with or without idiopathic generalized epilepsy" RELATED [OMIM:609572]
synonym: "PPR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609572]
xref: GARD:15463 {source="MONDO:GARD"}
xref: MEDGEN:324401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609572 {source="MONDO:equivalentTo"}
xref: Orphanet:166409 {source="OMIM:609572"}
xref: UMLS:C1835967 {source="MEDGEN:324401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015643 {source="DC-OMIM:609572", source="OMIM:609572"} ! photosensitive epilepsy

[Term]
id: MONDO:0012305
name: photoparoxysmal response 3
subset: gard_rare {source="GARD:15464", source="MONDO:GARD"}
subset: rare
synonym: "photoparoxysmal response 3" EXACT [MONDO:Lexical, OMIM:609573]
synonym: "photoparoxysmal response with or without myoclonic epilepsy" RELATED [OMIM:609573]
synonym: "PPR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609573]
xref: GARD:15464 {source="MONDO:GARD"}
xref: MEDGEN:372169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563695 {source="MONDO:equivalentTo"}
xref: OMIM:609573 {source="MONDO:equivalentTo"}
xref: Orphanet:166409 {source="OMIM:609573"}
xref: UMLS:C1835966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372169"}
is_a: MONDO:0015643 {source="DC-OMIM:609573", source="OMIM:609573"} ! photosensitive epilepsy

[Term]
id: MONDO:0012306
name: cardiomyopathy, familial restrictive, 2
subset: gard_rare {source="GARD:18071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, familial restrictive, 2" EXACT [MONDO:Lexical, OMIM:609578]
synonym: "RCM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609578]
xref: DOID:0111426 {source="MONDO:equivalentTo"}
xref: GARD:18071 {source="MONDO:GARD"}
xref: MEDGEN:400673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566512 {source="MONDO:equivalentTo"}
xref: OMIM:609578 {source="MONDO:equivalentTo"}
xref: Orphanet:75249 {source="OMIM:609578"}
xref: UMLS:C1865071 {source="MEDGEN:400673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016340 {source="MONDO:Redundant", source="OMIM:609578"} ! familial restrictive cardiomyopathy

[Term]
id: MONDO:0012307
name: familial scaphocephaly syndrome, McGillivray type
def: "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." [Orphanet:168624]
subset: gard_rare {source="GARD:3426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168624"}
subset: ordo_malformation_syndrome {source="Orphanet:168624"}
subset: orphanet_rare {source="Orphanet:168624"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "scaphocephaly, maxillary retrusion, and intellectual disability" RELATED [OMIM:609579]
synonym: "scaphocephaly, maxillary retrusion, and mental retardation" RELATED DEPRECATED [OMIM:609579]
synonym: "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" EXACT [Orphanet:168624]
xref: GARD:3426 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:168624", source="Orphanet:168624/attributed", source="Orphanet:168624/ntbt"}
xref: MEDGEN:355365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566511 {source="MONDO:equivalentTo"}
xref: OMIM:609579 {source="MONDO:equivalentTo", source="Orphanet:168624", source="Orphanet:168624/e"}
xref: Orphanet:168624 {source="MONDO:equivalentTo", source="OMIM:609579"}
xref: UMLS:C1865070 {source="MEDGEN:355365", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015704 {source="Orphanet:168624"} ! familial scaphocephaly syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2

[Term]
id: MONDO:0012308
name: Joubert syndrome with renal defect
def: "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." [Orphanet:220497]
subset: gard_rare {source="GARD:10169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:220497"}
subset: orphanet_rare {source="Orphanet:220497"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JBTS4" EXACT ABBREVIATION [DOID:0110999, GARD:0010169, MONDO:Lexical, OMIM:609583]
synonym: "Joubert syndrome 4" RELATED [GARD:0010169, MONDO:Lexical, OMIM:609583]
synonym: "Joubert syndrome type 4" EXACT [DOID:0110999, MONDORULE:1, OMIM:609583]
synonym: "Joubert syndrome with renal anomalies" RELATED [GARD:0010169]
synonym: "JS-R" EXACT [Orphanet:220497]
xref: DOID:0110999 {source="MONDO:equivalentTo"}
xref: GARD:10169 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"}
xref: ICD10CM:Q61.5 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"}
xref: MEDGEN:335526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536296 {source="MONDO:equivalentTo"}
xref: NCIT:C74997 {source="MONDO:equivalentTo"}
xref: OMIM:609583 {source="DOID:0110999", source="Orphanet:220497", source="MONDO:equivalentTo", source="GARD:0010169", source="Orphanet:220497/e"}
xref: Orphanet:220497 {source="MONDO:equivalentTo", source="OMIM:609583"}
xref: SCTID:716999001 {source="MONDO:equivalentTo"}
xref: UMLS:C1846790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335526"}
is_a: MONDO:0018772 {source="DC-OMIM:609583", source="DOID:0110999", source="NCIT:C74997", source="OMIM:609583"} ! Joubert syndrome
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:220497", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: excluded_subClassOf MONDO:0020022 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7905 {source="MONDO:mim2gene_medgen"} ! NPHP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies" xsd:anyURI {source="GARD:0010169"}

[Term]
id: MONDO:0012309
name: parietal foramina 2
def: "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALX4 parietal foramina" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "parietal foramina 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609597]
synonym: "parietal foramina caused by mutation in ALX4" EXACT [MONDO:design_pattern]
synonym: "parietal foramina type 2" EXACT [MONDORULE:1, OMIM:609597]
synonym: "PFM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609597]
xref: GARD:18053 {source="MONDO:GARD"}
xref: MEDGEN:355358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566510 {source="MONDO:equivalentTo"}
xref: OMIM:609597 {source="MONDO:equivalentTo"}
xref: Orphanet:60015 {source="OMIM:609597"}
xref: UMLS:C1865044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355358"}
is_a: MONDO:0018953 {source="DC-OMIM:609597", source="MONDO:Redundant", source="OMIM:609597"} ! parietal foramina
intersection_of: MONDO:0018953 ! parietal foramina
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 ! ALX4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 {source="MONDO:mim2gene_medgen"} ! ALX4

[Term]
id: MONDO:0012310
name: fibrosis of extraocular muscles, congenital, with synergistic divergence
subset: gard_rare {source="GARD:15466", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital fibrosis syndrome with synergistic divergence" RELATED [OMIM:609612]
synonym: "external ophthalmoplegia with synergistic divergence" RELATED [OMIM:609612]
synonym: "external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation" RELATED [OMIM:609612]
synonym: "fibrosis of extraocular muscles, congenital, with synergistic divergence" EXACT [OMIM:609612]
xref: GARD:15466 {source="MONDO:GARD"}
xref: MEDGEN:351285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566508 {source="MONDO:equivalentTo"}
xref: OMIM:609612 {source="MONDO:equivalentTo"}
xref: Orphanet:45358 {source="OMIM:609612"}
xref: UMLS:C1865040 {source="MEDGEN:351285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007614 {source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles

[Term]
id: MONDO:0012311
name: spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
synonym: "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness" EXACT [OMIM:609616]
xref: MEDGEN:355893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566507 {source="MONDO:equivalentTo"}
xref: OMIM:609616 {source="MONDO:equivalentTo"}
xref: UMLS:C1865022 {source="MEDGEN:355893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C566507/inferred"} ! hereditary disease

[Term]
id: MONDO:0012312
name: short QT syndrome type 1
def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18633", source="MONDO:GARD"}
subset: rare
synonym: "KCNH2 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "short QT syndrome 1" RELATED [MONDO:Lexical, OMIM:609620]
synonym: "short QT syndrome caused by mutation in KCNH2" EXACT [MONDO:design_pattern]
synonym: "short QT syndrome type 1" EXACT [MONDORULE:1, OMIM:609620]
synonym: "SQT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609620]
synonym: "SQTS" EXACT ABBREVIATION [Orphanet:51083]
xref: GARD:18633 {source="MONDO:GARD"}
xref: MEDGEN:355891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566506 {source="MONDO:equivalentTo"}
xref: OMIM:609620 {source="MONDO:equivalentTo", source="Orphanet:51083"}
xref: UMLS:C1865020 {source="MEDGEN:355891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000453 {source="DC-OMIM:609620", source="MONDO:Redundant", source="OMIM:609620"} ! short QT syndrome
intersection_of: MONDO:0000453 ! short QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6251 ! KCNH2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6251 {source="MONDO:mim2gene_medgen"} ! KCNH2

[Term]
id: MONDO:0012313
name: short QT syndrome type 2
def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18634", source="MONDO:GARD"}
subset: rare
synonym: "KCNQ1 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "short QT syndrome 2" RELATED [MONDO:Lexical, OMIM:609621]
synonym: "short QT syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern]
synonym: "short QT syndrome type 2" EXACT [MONDORULE:1, OMIM:609621]
synonym: "SQT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609621]
xref: GARD:18634 {source="MONDO:GARD"}
xref: MEDGEN:355890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566505 {source="MONDO:equivalentTo"}
xref: OMIM:609621 {source="MONDO:equivalentTo"}
xref: UMLS:C1865019 {source="MEDGEN:355890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000453 {source="MONDO:Redundant", source="OMIM:609621"} ! short QT syndrome
intersection_of: MONDO:0000453 ! short QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 ! KCNQ1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 {source="MONDO:mim2gene_medgen"} ! KCNQ1

[Term]
id: MONDO:0012314
name: short QT syndrome type 3
def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18635", source="MONDO:GARD"}
subset: rare
synonym: "KCNJ2 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "short QT syndrome 3" RELATED [MONDO:Lexical, OMIM:609622]
synonym: "short QT syndrome caused by mutation in KCNJ2" EXACT [MONDO:design_pattern]
synonym: "short QT syndrome type 3" EXACT [MONDORULE:1, OMIM:609622]
synonym: "SQT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609622]
xref: GARD:18635 {source="MONDO:GARD"}
xref: MEDGEN:400662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566504 {source="MONDO:equivalentTo"}
xref: OMIM:609622 {source="MONDO:equivalentTo"}
xref: UMLS:C1865018 {source="MEDGEN:400662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000453 {source="MONDO:Redundant", source="OMIM:609622"} ! short QT syndrome
intersection_of: MONDO:0000453 ! short QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 ! KCNJ2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 {source="MONDO:mim2gene_medgen"} ! KCNJ2

[Term]
id: MONDO:0012315
name: distal 10q deletion syndrome
def: "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay." [Orphanet:96148]
subset: gard_rare {source="GARD:3711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96148"}
subset: ordo_malformation_syndrome {source="Orphanet:96148"}
subset: orphanet_rare {source="Orphanet:96148"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "10q deletion" RELATED [GARD:0003711]
synonym: "10q monosomy" RELATED [GARD:0003711]
synonym: "chromosome 10q deletion" RELATED [GARD:0003711]
synonym: "chromosome 10q26 deletion syndrome" EXACT [DOID:0060390, OMIM:609625]
synonym: "deletion 10q" RELATED [GARD:0003711]
synonym: "distal deletion 10q" EXACT [Orphanet:96148]
synonym: "distal monosomy 10q" EXACT [DOID:0060390]
synonym: "distal monosomy type 10q" EXACT [MONDORULE:4, Orphanet:96148]
synonym: "monosomy 10q" RELATED [GARD:0003711]
synonym: "monosomy 10qter" EXACT [DOID:0060390, Orphanet:96148]
synonym: "partial monosomy 10q" RELATED [GARD:0003711]
synonym: "telomeric deletion 10q" EXACT [DOID:0060390, Orphanet:96148]
synonym: "terminal chromosome 10Q26 deletion syndrome" RELATED [OMIM:609625]
synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [DOID:0060390]
xref: DOID:0060390 {source="MONDO:equivalentTo"}
xref: GARD:3711 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96148/attributed", source="Orphanet:96148/ntbt", source="Orphanet:96148", source="DOID:0060390"}
xref: MEDGEN:436306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567182 {source="MONDO:equivalentTo", source="DOID:0060390"}
xref: OMIM:609625 {source="Orphanet:96148", source="MONDO:equivalentTo", source="DOID:0060390", source="Orphanet:96148/e"}
xref: Orphanet:96148 {source="OMIM:609625", source="MONDO:equivalentTo", source="DOID:0060390"}
xref: SCTID:718687003 {source="MONDO:equivalentTo"}
xref: UMLS:C2674937 {source="MEDGEN:436306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:609625", source="DOID:0060390"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016909 {source="Orphanet:96148"} ! partial monosomy of the long arm of chromosome 10
relationship: disease_arises_from_structure CHR:9606-chr10q {source="https://orcid.org/0000-0002-4142-7153"} ! 10q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0012316
name: Majeed syndrome
def: "Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis." [Orphanet:77297]
subset: gard_rare {source="GARD:10088", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:77297"}
subset: orphanet_rare {source="Orphanet:77297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDA and CRMO" RELATED [GARD:0010088]
synonym: "chronic recurrent multifocal osteomyelitis, congenital" RELATED [GARD:0010088]
synonym: "chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis" RELATED [OMIM:609628]
synonym: "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome" EXACT [Orphanet:77297]
synonym: "congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis" RELATED OMO:0003005 []
synonym: "congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis" RELATED [GARD:0010088]
synonym: "dyserythropoietic anemia, and neutrophilic dermatosis" RELATED [GARD:0010088]
synonym: "MAJEED syndrome" RELATED [OMIM:609628]
synonym: "Majeed syndrome" EXACT CLINGEN_LABEL [OMIM:609628]
synonym: "MJDS" RELATED ABBREVIATION [OMIM:609628]
xref: GARD:10088 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10072223 {source="Orphanet:77297/e", source="Orphanet:77297"}
xref: MEDGEN:351273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537839 {source="Orphanet:77297/e", source="MONDO:equivalentTo", source="Orphanet:77297"}
xref: NANDO:2200453 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119058 {source="MONDO:equivalentTo"}
xref: OMIM:609628 {source="Orphanet:77297/e", source="MONDO:equivalentTo", source="Orphanet:77297"}
xref: Orphanet:77297 {source="OMIM:609628", source="MONDO:equivalentTo"}
xref: SCTID:703540008 {source="MONDO:equivalentTo"}
xref: UMLS:C1864997 {source="MEDGEN:351273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0009813 {source="OMIM:609628"} ! chronic recurrent multifocal osteomyelitis
is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119058", source="Orphanet:77297/inferred"} ! autoinflammatory syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14450 {source="MONDO:mim2gene_medgen"} ! LPIN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome" xsd:anyURI {source="GARD:0010088"}

[Term]
id: MONDO:0012317
name: visceral neuropathy, familial, 3, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "enteric neuropathy, familial" RELATED [OMIM:609629]
synonym: "pseudoobstruction, chronic intestinal, neuropathic" RELATED [OMIM:609629]
synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:609629]
synonym: "visceral neuropathy, familial, autosomal dominant" EXACT [OMIM:609629]
xref: DOID:0080682 {source="MONDO:equivalentTo"}
xref: MEDGEN:351272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609629 {source="MONDO:equivalentTo"}
xref: Orphanet:2978 {source="OMIM:609629"}
xref: UMLS:C1864996 {source="MEDGEN:351272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017574 {source="Orphanet:2978/btnt"} ! chronic intestinal pseudoobstruction

[Term]
id: MONDO:0012318
name: leukemia, chronic lymphocytic, susceptibility to, 1
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "Clls1" RELATED [OMIM:609630]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 1" EXACT [OMIM:609630]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:609630]
xref: MEDGEN:351271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609630 {source="MONDO:equivalentTo"}
xref: Orphanet:67038 {source="OMIM:609630"}
xref: UMLS:C1864995 {source="MEDGEN:351271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="https://orcid.org/0000-0002-6601-2165"} ! B-cell chronic lymphocytic leukemia

[Term]
id: MONDO:0012319
name: major affective disorder 3
synonym: "bipolar affective disorder, early-onset" RELATED [OMIM:609633]
synonym: "MAFD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609633]
synonym: "MAJOR affective disorder 3" RELATED [OMIM:609633]
synonym: "major affective disorder 3" EXACT [OMIM:609633]
synonym: "major affective disorder 3, early onset" EXACT [OMIM:609633, OMIM:genemap2]
xref: MEDGEN:351270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566501 {source="MONDO:equivalentTo"}
xref: OMIM:609633 {source="MONDO:equivalentTo"}
xref: UMLS:C1864994 {source="MEDGEN:351270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:609633", source="MESH:C566501", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012320
name: migraine, familial hemiplegic, 3
def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10974", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial or sporadic hemiplegic migraine caused by mutation in SCN1A" EXACT [MONDO:design_pattern]
synonym: "FHM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609634]
synonym: "migraine, familial hemiplegic, 3" EXACT [MONDO:Lexical, OMIM:609634]
synonym: "migraine, familial hemiplegic, type 3" EXACT [MONDORULE:1, OMIM:609634]
synonym: "SCN1A familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111183 {source="MONDO:equivalentTo"}
xref: GARD:10974 {source="MONDO:GARD"}
xref: MEDGEN:400655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566500 {source="MONDO:equivalentTo"}
xref: OMIM:609634 {source="MONDO:equivalentTo"}
xref: Orphanet:569 {source="OMIM:609634"}
xref: UMLS:C1864987 {source="MEDGEN:400655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:609634", source="Orphanet:569/btnt"} ! familial hemiplegic migraine
intersection_of: MONDO:0000700 ! familial hemiplegic migraine
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 ! SCN1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="MONDO:mim2gene_medgen"} ! SCN1A

[Term]
id: MONDO:0012321
name: Alzheimer disease 10
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." [DOID:0110043, PMID:16175510]
subset: gard_rare {source="GARD:16514", source="MONDO:GARD"}
subset: rare
synonym: "AD10" EXACT ABBREVIATION [DOID:0110043]
synonym: "Ad10" RELATED [OMIM:609636]
synonym: "Alzheimer disease 10" EXACT [DOID:0110043, OMIM:609636]
synonym: "Alzheimer disease familial 10" EXACT [DOID:0110043]
synonym: "Alzheimer disease type 10" EXACT [MONDORULE:2, OMIM:609636]
synonym: "Alzheimer disease, familial, 10" RELATED [OMIM:609636]
synonym: "Alzheimer disease-10" EXACT [OMIM:609636, OMIM:genemap2]
synonym: "Alzheimer's disease 10" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 10" EXACT [DOID:0110043, MONDORULE:2]
xref: DOID:0110043 {source="MONDO:equivalentTo"}
xref: GARD:16514 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110043"}
xref: MEDGEN:351228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566465 {source="MONDO:equivalentTo"}
xref: OMIM:609636 {source="MONDO:equivalentTo", source="DOID:0110043"}
xref: UMLS:C1864828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351228"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012322
name: holoprosencephaly 5
def: "Holoprosencephaly associated with mutations in the ZIC2 gene." [NCIT:C75460]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "holoprosencephaly 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609637]
synonym: "holoprosencephaly caused by mutation in ZIC2" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 5" EXACT [DOID:0110878, MONDORULE:1, OMIM:609637]
synonym: "HPE5" EXACT ABBREVIATION [DOID:0110878, MONDO:Lexical, OMIM:609637]
synonym: "ZIC2 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110878 {source="MONDO:equivalentTo"}
xref: MEDGEN:355304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566464 {source="MONDO:equivalentTo"}
xref: NCIT:C75460 {source="MONDO:equivalentTo"}
xref: OMIM:609637 {source="DOID:0110878", source="MONDO:equivalentTo"}
xref: Orphanet:2162 {source="OMIM:609637"}
xref: UMLS:C1864827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355304"}
is_a: MONDO:0016296 {source="DOID:0110878", source="MESH:C566464", source="MONDO:Redundant", source="NCIT:C75460", source="OMIM:609637"} ! holoprosencephaly
is_a: MONDO:0017219 ! microform holoprosencephaly
is_a: MONDO:0019756 ! lobar holoprosencephaly
is_a: MONDO:0019757 ! alobar holoprosencephaly
intersection_of: MONDO:0016296 ! holoprosencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12873 ! ZIC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12873 {source="MONDO:mim2gene_medgen"} ! ZIC2

[Term]
id: MONDO:0012323
name: lethal acantholytic epidermolysis bullosa
def: "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters." [Orphanet:158687]
subset: gard_rare {source="GARD:9910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158687"}
subset: orphanet_rare {source="Orphanet:158687"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609638]
synonym: "epidermolysis bullosa, lethal acantholytic" RELATED [MONDO:Lexical, OMIM:609638]
synonym: "LAEB" EXACT ABBREVIATION [Orphanet:158687]
synonym: "lethal acantholytic epidermolysis bullosa" EXACT [OMIM:609638]
xref: GARD:9910 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:158687", source="Orphanet:158687/attributed", source="Orphanet:158687/ntbt"}
xref: MEDGEN:400622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535493 {source="Orphanet:158687", source="MONDO:equivalentTo", source="Orphanet:158687/e"}
xref: OMIM:609638 {source="Orphanet:158687", source="MONDO:equivalentTo", source="Orphanet:158687/e"}
xref: Orphanet:158687 {source="OMIM:609638", source="MONDO:equivalentTo"}
xref: UMLS:C1864826 {source="MEDGEN:400622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015550 {source="Orphanet:158687"} ! suprabasal epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic" xsd:anyURI {source="GARD:0009910"}

[Term]
id: MONDO:0012324
name: Frias syndrome
def: "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." [Orphanet:264200]
subset: gard_rare {source="GARD:2384", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:264200"}
subset: ordo_malformation_syndrome {source="Orphanet:264200"}
subset: orphanet_rare {source="Orphanet:264200"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "14q22-q23 microdeletion syndrome" EXACT [Orphanet:264200]
synonym: "14q22q23 microdeletion syndrome" EXACT [Orphanet:264200]
synonym: "chromosome 14Q22 deletion syndrome" RELATED [OMIM:609640]
synonym: "Del(14)(q22q23)" EXACT [Orphanet:264200]
synonym: "Frias syndrome" EXACT [GARD:0002384, OMIM:609640]
synonym: "Growth deficiency, Facial anomalies, and brachydactyly" RELATED [OMIM:609640]
synonym: "monosomy 14q22-q23" EXACT [Orphanet:264200]
synonym: "monosomy 14q22q23" EXACT [Orphanet:264200]
xref: GARD:2384 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:264200/attributed", source="Orphanet:264200/ntbt", source="Orphanet:264200"}
xref: MEDGEN:400621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535639 {source="MONDO:equivalentTo"}
xref: OMIM:609640 {source="Orphanet:264200", source="MONDO:equivalentTo", source="Orphanet:264200/e"}
xref: Orphanet:2055 {source="MONDO:equivalentObsolete", source="OMIM:609640"}
xref: Orphanet:264200 {source="MONDO:equivalentTo", source="OMIM:609640"}
xref: UMLS:C1864825 {source="MONDO:equivalentTo", source="MEDGEN:400621", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:264200"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016912 {source="Orphanet:264200"} ! partial deletion of the long arm of chromosome 14
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:264200", source="Orphanet:264200/inferred"} ! disorder of development or morphogenesis
relationship: disease_arises_from_structure CHR:9606-chr14q22-q23 {source="https://orcid.org/0000-0002-4142-7153"} ! 14q22-q23 (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0012325
name: Nguyen syndrome
synonym: "MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [GARD:0009754]
synonym: "MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [OMIM:609643]
synonym: "Nguyen syndrome" EXACT [OMIM:609643]
xref: MEDGEN:400620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536115 {source="MONDO:equivalentTo"}
xref: OMIM:609643 {source="MONDO:equivalentTo"}
xref: UMLS:C1864823 {source="MEDGEN:400620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536115/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9754/nguyen-syndrome" xsd:anyURI {source="GARD:0009754"}

[Term]
id: MONDO:0012326
name: autosomal recessive nonsyndromic hearing loss 42
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 42" NARROW [DOID:0110500]
synonym: "autosomal recessive nonsyndromic deafness 42" NARROW [OMIM:609646]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ILDR1" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 42" NARROW [DOID:0110500, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 42" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 42" NARROW [MONDO:Lexical, OMIM:609646, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 42" NARROW [MONDORULE:2, OMIM:609646]
synonym: "DFNB42" NARROW ABBREVIATION [DOID:0110500, MONDO:Lexical, OMIM:609646]
synonym: "ILDR1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110500 {source="MONDO:equivalentTo"}
xref: GARD:22614 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110500"}
xref: MEDGEN:351225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566460 {source="MONDO:equivalentTo"}
xref: OMIM:609646 {source="DOID:0110500", source="MONDO:equivalentTo"}
xref: UMLS:C1864818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351225"}
is_a: MONDO:0019588 {source="DC-OMIM:609646", source="DOID:0110500", source="MONDO:Redundant", source="OMIM:609646"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28741 ! ILDR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28741 {source="MONDO:mim2gene_medgen"} ! ILDR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012327
name: autosomal recessive nonsyndromic hearing loss 46
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31." [DOID:0110503, PMID:15637723]
subset: gard_rare {source="GARD:22615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 46" NARROW [DOID:0110503]
synonym: "autosomal recessive nonsyndromic deafness 46" NARROW [OMIM:609647]
synonym: "autosomal recessive nonsyndromic deafness type 46" NARROW [DOID:0110503, MONDORULE:2]
synonym: "deafness, autosomal recessive 46" NARROW [MONDO:Lexical, OMIM:609647, OMIM:genemap2]
synonym: "DFNB46" NARROW ABBREVIATION [DOID:0110503, MONDO:Lexical, OMIM:609647]
xref: DOID:0110503 {source="MONDO:equivalentTo"}
xref: GARD:22615 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110503"}
xref: MEDGEN:355302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566459 {source="MONDO:equivalentTo"}
xref: OMIM:609647 {source="DOID:0110503", source="MONDO:equivalentTo"}
xref: UMLS:C1864815 {source="MEDGEN:355302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:609647", source="DOID:0110503", source="OMIM:609647"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012328
name: trichilemmal cyst
subset: otar {source="MONDO:OTAR"}
synonym: "Pilar cyst" RELATED [OMIM:609649]
synonym: "trichilemmal cyst 1" RELATED [MONDO:Lexical, OMIM:609649]
synonym: "Tricholemmal cyst" RELATED [OMIM:609649]
synonym: "TRICY1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609649]
xref: MEDGEN:389216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609649 {source="MONDO:equivalentTo"}
xref: SCTID:254677004 {source="MONDO:equivalentTo"}
xref: UMLS:C2266788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:389216"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012329
name: short stature and Facioauriculothoracic malformations
synonym: "short stature and Facioauriculothoracic malformations" EXACT [OMIM:609654]
xref: MEDGEN:351216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566457 {source="MONDO:equivalentTo"}
xref: OMIM:609654 {source="MONDO:equivalentTo"}
xref: UMLS:C1864791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351216"}
is_a: MONDO:0003847 {source="MESH:C566457/inferred"} ! hereditary disease

[Term]
id: MONDO:0012330
name: talo-patello-scaphoid osteolysis
def: "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested." [Orphanet:50809]
subset: gard_rare {source="GARD:10061", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:50809"}
subset: ordo_malformation_syndrome {source="Orphanet:50809"}
subset: orphanet_rare {source="Orphanet:50809"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "singh-Williams-McAlister syndrome" EXACT [Orphanet:50809]
synonym: "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" RELATED [OMIM:609655]
xref: GARD:10061 {source="MONDO:GARD"}
xref: MEDGEN:400611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536894 {source="MONDO:equivalentTo"}
xref: OMIM:609655 {source="Orphanet:50809", source="MONDO:equivalentTo", source="Orphanet:50809/e"}
xref: Orphanet:50809 {source="MONDO:equivalentTo", source="OMIM:609655"}
xref: UMLS:C1864784 {source="MEDGEN:400611", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019707 {source="Orphanet:50809"} ! primary osteolysis

[Term]
id: MONDO:0012331
name: migraine with aura, susceptibility to, 9
subset: predisposition
synonym: "Mgr9" RELATED [OMIM:609670]
synonym: "migraine with aura, susceptibility to, 9" EXACT [OMIM:609670]
synonym: "migraine with aura, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:609670]
xref: MEDGEN:400609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609670 {source="MONDO:equivalentTo"}
xref: UMLS:C1864772 {source="MEDGEN:400609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 ! migraine with or without aura, susceptibility to

[Term]
id: MONDO:0012332
name: obsolete short stature-delayed bone age due to thyroid hormone metabolism deficiency
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4971" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800046

[Term]
id: MONDO:0012333
name: autosomal recessive nonsyndromic hearing loss 53
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 53" NARROW [DOID:0110509]
synonym: "autosomal recessive nonsyndromic deafness 53" NARROW [OMIM:609706]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in COL11A2" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 53" NARROW [DOID:0110509, MONDORULE:2]
synonym: "COL11A2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 53" NARROW [MONDO:Lexical, OMIM:609706, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 53" NARROW [MONDORULE:2, OMIM:609706]
synonym: "DFNB53" NARROW ABBREVIATION [DOID:0110509, MONDO:Lexical, OMIM:609706]
xref: DOID:0110509 {source="MONDO:equivalentTo"}
xref: GARD:22616 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110509"}
xref: MEDGEN:400602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566453 {source="MONDO:equivalentTo"}
xref: OMIM:609706 {source="MONDO:equivalentTo", source="DOID:0110509"}
xref: UMLS:C1864746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400602"}
is_a: MONDO:0019588 {source="DC-OMIM:609706", source="DOID:0110509", source="MONDO:Redundant", source="OMIM:609706"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 ! COL11A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012334
name: hereditary spastic paraplegia 29
def: "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia." [Orphanet:101009]
subset: gard_rare {source="GARD:9729", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:101009"}
subset: orphanet_rare {source="Orphanet:101009"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 29" EXACT [DOID:0110780]
synonym: "autosomal dominant spastic paraplegia type 29" RELATED [Orphanet:101009]
synonym: "hereditary spastic paraplegia type 29" EXACT [DOID:0110780, MONDORULE:2]
synonym: "spastic paraplegia 29" RELATED [GARD:0009729]
synonym: "spastic paraplegia 29, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609727]
synonym: "SPG29" EXACT ABBREVIATION [DOID:0110780, MONDO:Lexical, OMIM:609727, Orphanet:101009]
xref: DOID:0110780 {source="MONDO:equivalentTo"}
xref: GARD:9729 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:101009", source="DOID:0110780", source="Orphanet:101009/attributed", source="Orphanet:101009/ntbt"}
xref: MEDGEN:346682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536863 {source="MONDO:equivalentTo", source="Orphanet:101009", source="Orphanet:101009/e"}
xref: OMIM:609727 {source="MONDO:equivalentTo", source="Orphanet:101009", source="DOID:0110780", source="Orphanet:101009/e"}
xref: Orphanet:101009 {source="OMIM:609727", source="MONDO:equivalentTo", source="DOID:0110780"}
xref: SCTID:733029008 {source="MONDO:equivalentTo"}
xref: UMLS:C1857855 {source="MEDGEN:346682", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015087 {source="Orphanet:101009"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110780", source="MESH:C536863", source="MONDO:Redundant", source="OMIM:609727", source="Orphanet:101009/inferred"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0012335
name: obesity due to pro-opiomelanocortin deficiency
def: "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin." [Orphanet:71526]
subset: gard_rare {source="GARD:10823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:110450"}
subset: ordo_malformation_syndrome {source="Orphanet:71526"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:71526"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OBAIRH" RELATED ABBREVIATION [OMIM:609734]
synonym: "obesity, adrenal insufficiency, and red hair due to POMC deficiency" EXACT [OMIM:609734, OMIM:genemap2]
synonym: "obesity, early-onset, adrenal insufficiency, and Red hair" RELATED [OMIM:609734]
synonym: "obesity, early-onset, with adrenal insufficiency and RED hair" RELATED [OMIM:609734]
synonym: "obesity, early-onset, with adrenal insufficiency and Red hair" RELATED [OMIM:609734]
synonym: "POMC Deficiency" EXACT [NORD:110450]
synonym: "POMC deficiency" EXACT [Orphanet:71526]
synonym: "PROOPIOMELANOCORTIN deficiency" RELATED [OMIM:609734]
xref: GARD:10823 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:71526", source="Orphanet:71526/attributed", source="Orphanet:71526/ntbt"}
xref: ICD9:255.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:341863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565726 {source="MONDO:equivalentTo"}
xref: NORD:110450 {source="MONDO:NORD"}
xref: OMIM:609734 {source="Orphanet:71526/e", source="MONDO:equivalentTo", source="Orphanet:71526"}
xref: Orphanet:71526 {source="OMIM:609734", source="MONDO:equivalentTo"}
xref: SCTID:702949005 {source="MONDO:equivalentTo"}
xref: UMLS:C1857854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341863"}
is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9201 {source="MONDO:mim2gene_medgen"} ! POMC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012336
name: cataract 22 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive congenital nuclear cataract 2" NARROW [DOID:0110268]
synonym: "cataract 22" EXACT [OMIM:609741, OMIM:genemap2]
synonym: "cataract 22, multiple types" RELATED [MONDO:Lexical, OMIM:609741]
synonym: "cataract, congenital nuclear, autosomal recessive 2" RELATED [OMIM:609741]
synonym: "CATCN2" NARROW ABBREVIATION [DOID:0110268]
synonym: "CRYBB3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT22" EXACT ABBREVIATION [DOID:0110268, MONDO:Lexical, OMIM:609741]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBB3" EXACT [MONDO:design_pattern]
xref: DOID:0110268 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110268"}
xref: MEDGEN:341862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565725 {source="MONDO:equivalentTo"}
xref: OMIM:609741 {source="MONDO:equivalentTo", source="DOID:0110268"}
xref: Orphanet:91492 {source="OMIM:609741"}
xref: Orphanet:98988 {source="MONDO:relatedTo", source="OMIM:609741"}
xref: Orphanet:98991 {source="MONDO:relatedTo", source="OMIM:609741"}
xref: UMLS:C1857853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341862"}
is_a: MONDO:0005129 {source="DOID:0110268", source="MESH:C565725", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:609741"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2400 ! CRYBB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2400 {source="MONDO:mim2gene_medgen"} ! CRYBB3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012337
name: obsolete glaucoma 1, open angle, I
synonym: "glaucoma 1, open angle, I" EXACT [MONDO:Lexical, OMIM:609745]
synonym: "GLC1I" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609745]
xref: MESH:C565724 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:609745 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0012338
name: epilepsy, idiopathic generalized, susceptibility to, 4
subset: predisposition
synonym: "EIG4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609750]
synonym: "epilepsy, idiopathic generalized, susceptibility to 4" EXACT [OMIM:609750, OMIM:genemap2]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609750]
synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:609750]
xref: DOID:0111319 {source="MONDO:equivalentTo"}
xref: MEDGEN:387924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609750 {source="MONDO:equivalentTo"}
xref: UMLS:C1857851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387924"}
is_a: MONDO:0020573 {source="OMIM:609750"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005579 {source="DC-OMIM:609750", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:609750"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012339
name: celiac disease, susceptibility to, 4
def: "Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "celiac disease caused by mutation in MYO9B" EXACT [MONDO:design_pattern]
synonym: "celiac disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609753]
synonym: "celiac disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:609753]
synonym: "CELIAC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609753]
synonym: "coeliac disease caused by mutation in MYO9B" EXACT OMO:0003005 []
synonym: "coeliac disease, susceptibility to, type 4" EXACT OMO:0003005 []
synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED [OMIM:609753]
synonym: "MYO9B celiac disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MYO9B coeliac disease" EXACT OMO:0003005 []
synonym: "susceptibility to celiac disease 4" RELATED [OMIM:609753]
synonym: "susceptibility to coeliac disease 4" RELATED OMO:0003005 []
xref: MEDGEN:346679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609753 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:609753"}
xref: UMLS:C1857847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346679"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7609 ! MYO9B
intersection_of: predisposes_towards MONDO:0005130 ! celiac disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7609 {source="MONDO:mim2gene_medgen"} ! MYO9B

[Term]
id: MONDO:0012340
name: celiac disease, susceptibility to, 2
subset: predisposition
synonym: "celiac disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:609754]
synonym: "CELIAC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609754]
synonym: "gluten-sensitive enteropathy, susceptibility to, 2" RELATED [OMIM:609754]
xref: MEDGEN:347564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609754 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:609754"}
xref: UMLS:C1857846 {source="MEDGEN:347564", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:609754", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="DC-OMIM:609754", source="OMIM:609754", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:609754"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012341
name: celiac disease, susceptibility to, 3
def: "Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "celiac disease caused by mutation in CTLA4" EXACT [MONDO:design_pattern]
synonym: "celiac disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:609755]
synonym: "celiac disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609755]
synonym: "CELIAC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609755]
synonym: "coeliac disease caused by mutation in CTLA4" EXACT OMO:0003005 []
synonym: "coeliac disease, susceptibility to, type 3" EXACT OMO:0003005 []
synonym: "CTLA4 celiac disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTLA4 coeliac disease" EXACT OMO:0003005 []
synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED [OMIM:609755]
synonym: "susceptibility to celiac disease 3" RELATED [OMIM:609755]
synonym: "susceptibility to coeliac disease 3" RELATED OMO:0003005 []
xref: MEDGEN:347563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609755 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:609755"}
xref: UMLS:C1857845 {source="MEDGEN:347563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 ! CTLA4
intersection_of: predisposes_towards MONDO:0005130 ! celiac disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 {source="MONDO:mim2gene_medgen"} ! CTLA4

[Term]
id: MONDO:0012342
name: 7q11.23 microduplication syndrome
def: "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported." [Orphanet:96121]
subset: gard_rare {source="GARD:12076", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96121"}
subset: ordo_malformation_syndrome {source="Orphanet:96121"}
subset: orphanet_rare {source="Orphanet:96121"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "7q11.23 duplication syndrome" RELATED [GARD:0012076]
synonym: "chromosome 7Q11.23 Duplication syndrome" RELATED [OMIM:609757]
synonym: "chromosome 7Q11.23 triplication syndrome" RELATED [OMIM:609757]
synonym: "dup(7)(q11.23)" EXACT [Orphanet:96121]
synonym: "Somerville-Van Der Aa syndrome" RELATED [OMIM:609757]
synonym: "trisomy 7q11.23" EXACT [Orphanet:96121]
synonym: "Wbs Duplication syndrome" RELATED [OMIM:609757]
synonym: "Wbs triplication syndrome" RELATED [OMIM:609757]
synonym: "Williams-Beuren region DUPLICATION syndrome" RELATED [OMIM:609757]
xref: DECIPHER:43 {source="MONDO:equivalentTo"}
xref: DOID:0080926 {source="MONDO:equivalentTo"}
xref: GARD:12076 {source="MONDO:GARD"}
xref: MEDGEN:347562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565723 {source="MONDO:equivalentTo"}
xref: OMIM:609757 {source="Orphanet:96121/e", source="MONDO:equivalentTo", source="Orphanet:96121"}
xref: Orphanet:96121 {source="OMIM:609757", source="MONDO:equivalentTo"}
xref: SCTID:726707004 {source="MONDO:equivalentTo"}
xref: UMLS:C1857844 {source="MEDGEN:347562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C565723/inferred", source="Orphanet:96121/inferred"} ! hereditary disease
is_a: MONDO:0016958 {source="Orphanet:96121"} ! partial duplication of the long arm of chromosome 7
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr7q11.23 ! 7q11.23 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0012343
name: aortic aneurysm, familial abdominal, 2
subset: gard_rare {source="GARD:16492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609782]
synonym: "aortic aneurysm, familial abdominal 2" EXACT [OMIM:609782, OMIM:genemap2]
synonym: "aortic aneurysm, familial abdominal, 2" EXACT [MONDO:Lexical, OMIM:609782]
xref: GARD:16492 {source="MONDO:GARD"}
xref: MEDGEN:339960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565229 {source="MONDO:equivalentTo"}
xref: OMIM:609782 {source="MONDO:equivalentTo"}
xref: Orphanet:86 {source="OMIM:609782"}
xref: UMLS:C1853364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339960"}
is_a: MONDO:0007031 {source="OMIM:609782", source="Orphanet:86/btnt"} ! familial abdominal aortic aneurysm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012344
name: Alzheimer disease 11
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." [DOID:0110044, PMID:18761660]
subset: gard_rare {source="GARD:16515", source="MONDO:GARD"}
subset: rare
synonym: "AD11" EXACT ABBREVIATION [DOID:0110044]
synonym: "Ad11" RELATED [OMIM:609790]
synonym: "Alzheimer disease 11" EXACT [DOID:0110044, OMIM:609790]
synonym: "Alzheimer disease type 11" EXACT [MONDORULE:2, OMIM:609790]
synonym: "Alzheimer disease, familial, 11" RELATED [OMIM:609790]
synonym: "Alzheimer disease-11" EXACT [OMIM:609790, OMIM:genemap2]
synonym: "Alzheimer's disease 11" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 11" EXACT [DOID:0110044, MONDORULE:2]
xref: DOID:0110044 {source="MONDO:equivalentTo"}
xref: GARD:16515 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110044"}
xref: MEDGEN:377886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565228 {source="MONDO:equivalentTo"}
xref: OMIM:609790 {source="MONDO:equivalentTo", source="DOID:0110044"}
xref: UMLS:C1853360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377886"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012345
name: acral peeling skin syndrome
def: "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." [Orphanet:263534]
subset: gard_rare {source="GARD:12863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263534"}
subset: orphanet_rare {source="Orphanet:263534"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acral deciduous skin" EXACT [Orphanet:263534]
synonym: "acral peeling skin syndrome" EXACT CLINGEN_LABEL [OMIM:609796]
synonym: "acral PSS" EXACT [Orphanet:263534]
synonym: "localised deciduous skin" EXACT OMO:0003005 []
synonym: "localised PSS" EXACT OMO:0003005 []
synonym: "localized deciduous skin" EXACT [Orphanet:263534]
synonym: "localized PSS" EXACT [Orphanet:263534]
synonym: "peeling skin syndrome 2" RELATED [MONDO:Lexical, OMIM:609796]
synonym: "peeling skin syndrome type 2" EXACT [MONDORULE:1, OMIM:609796]
synonym: "peeling skin syndrome, acral type" RELATED [OMIM:609796]
synonym: "PSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609796]
xref: DOID:0070521 {source="MONDO:equivalentTo"}
xref: GARD:12863 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:263534", source="Orphanet:263534/attributed", source="Orphanet:263534/ntbt"}
xref: MEDGEN:342862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536316 {source="MONDO:equivalentTo"}
xref: OMIM:609796 {source="MONDO:equivalentTo", source="Orphanet:263534", source="Orphanet:263534/e"}
xref: Orphanet:263534 {source="MONDO:equivalentTo", source="OMIM:609796"}
xref: SCTID:709416009 {source="MONDO:equivalentTo"}
xref: UMLS:C1853354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342862"}
is_a: MONDO:0019347 {source="DC-OMIM:609796", source="OMIM:609796", source="Orphanet:263534"} ! peeling skin syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11781 {source="MONDO:mim2gene_medgen"} ! TGM5
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome" xsd:anyURI {source="GARD:0012863"}

[Term]
id: MONDO:0012346
name: generalized epilepsy with febrile seizures plus, type 4
subset: gard_rare {source="GARD:18662", source="MONDO:GARD"}
subset: rare
synonym: "Gefs+, type 4" RELATED [OMIM:609800]
synonym: "GEFSP4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609800]
synonym: "generalized epilepsy with febrile seizures plus, type 4" EXACT [MONDO:Lexical, OMIM:609800]
xref: DOID:0111293 {source="MONDO:equivalentTo"}
xref: GARD:18662 {source="MONDO:GARD"}
xref: MEDGEN:342858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565227 {source="MONDO:equivalentTo"}
xref: OMIM:609800 {source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="OMIM:609800"}
xref: UMLS:C1853345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342858"}
is_a: MONDO:0018214 {source="DC-OMIM:609800", source="OMIM:609800"} ! generalized epilepsy with febrile seizures plus

[Term]
id: MONDO:0012347
name: hamartoma, Precalcaneal congenital fibrolipomatous
synonym: "hamartoma, Precalcaneal congenital fibrolipomatous" EXACT [OMIM:609808]
synonym: "Pcfh" RELATED [OMIM:609808]
xref: MEDGEN:342846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565226 {source="MONDO:equivalentTo"}
xref: OMIM:609808 {source="MONDO:equivalentTo"}
xref: UMLS:C1853298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342846"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012348
name: maturity-onset diabetes of the young type 8
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEL maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes and pancreatic exocrine" EXACT [DOID:0111105]
synonym: "diabetes and pancreatic exocrine dysfunction" RELATED [OMIM:609812]
synonym: "diabetes mellitus MODY type 8" RELATED [GARD:0010662]
synonym: "diabetes-pancreatic exocrine dysfunction syndrome" RELATED [OMIM:609812]
synonym: "DPED" RELATED ABBREVIATION [GARD:0010662]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in CEL" EXACT []
synonym: "maturity-onset diabetes of the young type 8 with exocrine dysfunction" EXACT [DOID:0111105]
synonym: "maturity-onset diabetes of the young, type 8" RELATED [GARD:0010662]
synonym: "maturity-onset diabetes of the young, type 8, with exocrine dysfunction" RELATED [GARD:0010662, MONDO:Lexical, OMIM:609812]
synonym: "maturity-onset diabetes of the young, type VIII" EXACT [OMIM:609812, OMIM:genemap2]
synonym: "MODY type 8" EXACT [DOID:0111105]
synonym: "MODY8" EXACT ABBREVIATION [DOID:0111105, MONDO:Lexical, OMIM:609812]
synonym: "type 8 maturity-onset diabetes of the young" RELATED [GARD:0010662]
xref: DOID:0111105 {source="MONDO:equivalentTo"}
xref: GARD:10662 {source="MONDO:GARD"}
xref: MEDGEN:342845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565225 {source="MONDO:equivalentTo"}
xref: OMIM:609812 {source="DOID:0111105", source="MONDO:equivalentTo"}
xref: Orphanet:552 {source="GARD:0010662"}
xref: SCTID:609575003 {source="MONDO:equivalentTo"}
xref: UMLS:C1853297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342845"}
is_a: MONDO:0018911 {source="DC-OMIM:609812", source="DOID:0111105", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1848 ! CEL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1848 {source="MONDO:mim2gene_medgen"} ! CEL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10662/maturity-onset-diabetes-of-the-young-type-8" xsd:anyURI {source="GARD:0010662"}

[Term]
id: MONDO:0012349
name: spondylocostal dysostosis 3, autosomal recessive
def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in LFNG" EXACT []
synonym: "LFNG autosomal recessive spondylocostal dysostosis" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "SCDO3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609813]
synonym: "SCOD3" RELATED ABBREVIATION [GARD:0004973]
synonym: "spondylocostal dysostosis 3" RELATED [GARD:0004973]
synonym: "spondylocostal dysostosis 3, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609813]
xref: DOID:0112361 {source="MONDO:equivalentTo"}
xref: GARD:4973 {source="MONDO:GARD"}
xref: MEDGEN:377871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609813 {source="MONDO:equivalentTo"}
xref: Orphanet:2311 {source="OMIM:609813"}
xref: UMLS:C1853296 {source="MEDGEN:377871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:609813"} ! spondylocostal dysostosis
is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:609813", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis
intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6560 ! LFNG
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6560 {source="MONDO:mim2gene_medgen"} ! LFNG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012350
name: complement factor H deficiency
subset: gard_rare {source="GARD:18551", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cfh deficiency" RELATED [OMIM:609814]
synonym: "CFHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609814]
synonym: "complement factor H deficiency" EXACT [MONDO:Lexical, OMIM:609814]
synonym: "factor H deficiency" RELATED [OMIM:609814]
xref: GARD:18551 {source="MONDO:GARD"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562875 {source="MONDO:equivalentTo"}
xref: NANDO:2200791 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:609814 {source="MONDO:equivalentTo"}
xref: Orphanet:200421 {source="OMIM:609814"}
xref: Orphanet:2134 {source="OMIM:609814"}
xref: Orphanet:329918 {source="OMIM:609814"}
xref: Orphanet:54370 {source="OMIM:609814"}
xref: Orphanet:93571 {source="OMIM:609814", source="MONDO:directSiblingOf"}
xref: Orphanet:93579 {source="OMIM:609814"}
xref: SCTID:234622003 {source="MONDO:equivalentTo"}
xref: UMLS:C0398777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96024"}
is_a: MONDO:0018013 {source="Orphanet:329918/btnt"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis
relationship: excluded_subClassOf MONDO:0016244 {source="Orphanet:2134/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! atypical hemolytic-uremic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 {source="MONDO:mim2gene_medgen"} ! CFH

[Term]
id: MONDO:0012351
name: zygodactyly type 1
subset: gard_rare {source="GARD:17357", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295187"}
subset: rare
synonym: "SD1, Weidenreich type" EXACT [Orphanet:295187]
synonym: "SD1a" EXACT [Orphanet:295187]
synonym: "syndactyly type 1, Weidenreich type" EXACT [Orphanet:295187]
synonym: "syndactyly type 1a" EXACT [Orphanet:295187]
synonym: "Zd1" RELATED [OMIM:609815]
synonym: "ZYGODACTYLY 1" RELATED [OMIM:609815]
synonym: "zygodactyly type 1" EXACT [MONDORULE:1, OMIM:609815]
synonym: "Zygodactyly, Weidenreich type" EXACT [Orphanet:295187]
xref: DOID:0111820 {source="MONDO:equivalentTo"}
xref: GARD:17357 {source="MONDO:GARD"}
xref: ICD10CM:Q70.3 {source="Orphanet:295187/attributed", source="Orphanet:295187/ntbt", source="Orphanet:295187"}
xref: MEDGEN:377870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565223 {source="MONDO:equivalentTo"}
xref: OMIM:609815 {source="Orphanet:295187", source="MONDO:equivalentTo", source="Orphanet:295187/e"}
xref: Orphanet:295187 {source="OMIM:609815", source="MONDO:equivalentTo"}
xref: Orphanet:93402 {source="OMIM:609815"}
xref: UMLS:C1853294 {source="MEDGEN:377870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008512 {source="Orphanet:295187"} ! syndactyly type 1

[Term]
id: MONDO:0012352
name: vasculitis, lymphocytic, cutaneous small vessel
synonym: "vasculitis, lymphocytic, cutaneous small vessel" EXACT [OMIM:609817]
xref: MEDGEN:344012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565222 {source="MONDO:equivalentTo"}
xref: OMIM:609817 {source="MONDO:equivalentTo"}
xref: UMLS:C1853293 {source="MEDGEN:344012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012353
name: erythrocytosis, familial, 3
def: "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECYT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609820]
synonym: "EGLN1 familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "erythrocytosis, familial, 3" EXACT [MONDO:Lexical, OMIM:609820]
synonym: "erythrocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:609820]
synonym: "familial polycythemia caused by mutation in EGLN1" EXACT [MONDO:design_pattern]
xref: DOID:0080338 {source="MONDO:equivalentTo"}
xref: GARD:18355 {source="MONDO:GARD"}
xref: MEDGEN:377868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565221 {source="MONDO:equivalentTo"}
xref: OMIM:609820 {source="MONDO:equivalentTo", source="DOID:0080338"}
xref: Orphanet:247511 {source="OMIM:609820"}
xref: UMLS:C1853286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377868"}
is_a: MONDO:0001115 {source="DC-OMIM:609820", source="DOID:0080338", source="OMIM:609820"} ! familial polycythemia
intersection_of: MONDO:0001115 ! familial polycythemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1232 ! EGLN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1232 {source="MONDO:mim2gene_medgen"} ! EGLN1

[Term]
id: MONDO:0012354
name: platelet-type bleeding disorder 8
def: "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." [Orphanet:36355]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12478", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36355"}
subset: orphanet_rare {source="Orphanet:36355"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADP platelet receptor P2Y12 defect" EXACT [DOID:0060692, Orphanet:36355]
synonym: "BDPLT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609821]
synonym: "bleeding disorder due to P2Rx1 defect, somatic" RELATED [OMIM:609821]
synonym: "bleeding disorder due to P2Ry12 defect" RELATED [OMIM:609821]
synonym: "bleeding disorder, platelet-type 8" RELATED [GARD:0012478]
synonym: "bleeding disorder, platelet-type, 8" RELATED [MONDO:Lexical, OMIM:609821]
synonym: "P2Y12 defect" EXACT [DOID:0060692]
synonym: "platelet-type bleeding disorder 8" EXACT CLINGEN_LABEL []
xref: DOID:0060692 {source="MONDO:equivalentTo"}
xref: GARD:12478 {source="MONDO:GARD"}
xref: ICD10CM:D69.8 {source="DOID:0060692", source="Orphanet:36355/attributed", source="Orphanet:36355/ntbt", source="Orphanet:36355"}
xref: MEDGEN:344008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565220 {source="MONDO:equivalentTo"}
xref: NANDO:2200669 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:609821 {source="DOID:0060692", source="Orphanet:36355/e", source="MONDO:equivalentTo", source="Orphanet:36355"}
xref: Orphanet:36355 {source="DOID:0060692", source="MONDO:equivalentTo", source="OMIM:609821"}
xref: SCTID:725291001 {source="MONDO:equivalentTo"}
xref: UMLS:C1853278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344008"}
is_a: MONDO:0000009 {source="DC-OMIM:609821", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:609821"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder

[Term]
id: MONDO:0012355
name: autosomal recessive nonsyndromic hearing loss 28
def: "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss." [NCIT:C129023]
subset: gard_rare {source="GARD:22617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 28" NARROW [DOID:0110486]
synonym: "autosomal recessive nonsyndromic deafness 28" NARROW [OMIM:609823]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 28" NARROW [DOID:0110486, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 28" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 28" NARROW [MONDO:Lexical, OMIM:609823, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 28" NARROW [MONDORULE:2, OMIM:609823]
synonym: "DFNB28" NARROW ABBREVIATION [DOID:0110486, MONDO:Lexical, OMIM:609823]
synonym: "TRIOBP autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110486 {source="MONDO:equivalentTo"}
xref: GARD:22617 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110486"}
xref: MEDGEN:342839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565218 {source="MONDO:equivalentTo"}
xref: NCIT:C129023 {source="MONDO:equivalentTo"}
xref: OMIM:609823 {source="MONDO:equivalentTo", source="DOID:0110486"}
xref: UMLS:C1853276 {source="MEDGEN:342839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:609823", source="DOID:0110486", source="MONDO:Redundant", source="OMIM:609823"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17009 ! TRIOBP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17009 {source="MONDO:mim2gene_medgen"} ! TRIOBP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012356
name: obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1880" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008073

[Term]
id: MONDO:0012357
name: obsolete glaucoma 1, open angle, G
def: "OBSOLETE. Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "glaucoma 1, open angle, G" EXACT [MONDO:Lexical, OMIM:609887]
synonym: "glaucoma 1, open angle, type G" EXACT [MONDORULE:1, OMIM:609887]
synonym: "GLC1G" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609887]
synonym: "open-angle glaucoma caused by mutation in WDR36" EXACT [MONDO:design_pattern]
synonym: "WDR36 open-angle glaucoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C563692 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:609887 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0012358
name: leprosy, susceptibility to, 1
subset: predisposition
synonym: "leprosy, paucibacillary type, susceptibility to" EXACT [OMIM:609888, OMIM:genemap2]
synonym: "leprosy, Paucibacillary type, susceptibility to, 1" RELATED [OMIM:609888]
synonym: "leprosy, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:609888]
synonym: "LPRS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609888]
xref: MEDGEN:332089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609888 {source="MONDO:equivalentTo"}
xref: Orphanet:548 {source="OMIM:609888"}
xref: UMLS:C1835932 {source="MEDGEN:332089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:609888", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005124 {source="DC-OMIM:609888", source="https://orcid.org/0000-0001-5208-3432"} ! leprosy
relationship: predisposes_towards MONDO:0005124 {source="OMIM:609888"} ! leprosy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012359
name: combined immunodeficiency due to partial RAG1 deficiency
def: "A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." [Orphanet:231154]
subset: gard_rare {source="GARD:13712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231154"}
subset: orphanet_rare {source="Orphanet:231154"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity" RELATED [OMIM:609889]
synonym: "CID due to partial RAG1 deficiency" EXACT [Orphanet:231154]
synonym: "CID with expansion of gamma delta T cells" EXACT [Orphanet:231154]
synonym: "combined immunodeficiency with expansion of gamma delta T cells" EXACT [Orphanet:231154]
xref: GARD:13712 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:231154/attributed", source="Orphanet:231154/ntbt", source="Orphanet:231154"}
xref: MEDGEN:372161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563691 {source="MONDO:equivalentTo"}
xref: OMIM:609889 {source="Orphanet:231154", source="MONDO:equivalentTo", source="Orphanet:231154/e"}
xref: Orphanet:231154 {source="OMIM:609889", source="MONDO:equivalentTo"}
xref: SCTID:725290000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835931 {source="MEDGEN:372161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:231154", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9831 {source="MONDO:mim2gene_medgen"} ! RAG1

[Term]
id: MONDO:0012360
name: congenital nongoitrous hypothyroidism 3
def: "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1." [DOID:0070127]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHNG3" EXACT ABBREVIATION [DOID:0070127, MONDO:Lexical, OMIM:609893]
synonym: "congenital nongoitrous hypothyroidism 3" EXACT [DOID:0070127]
synonym: "hypothyroidism, congenital, nongoitrous, 3" EXACT [MONDO:Lexical, OMIM:609893]
synonym: "resistance to thyrotropin" RELATED [OMIM:609893]
synonym: "thyrotropin resistance" RELATED [OMIM:609893]
xref: DOID:0070127 {source="MONDO:equivalentTo"}
xref: ICD10CM:E03.1 {source="DOID:0070127"}
xref: MEDGEN:424853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567935 {source="MONDO:equivalentTo"}
xref: OMIM:609893 {source="MONDO:equivalentTo", source="DOID:0070127"}
xref: Orphanet:97927 {source="OMIM:609893"}
xref: UMLS:C2940785 {source="MEDGEN:424853", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000045 {source="DC-OMIM:609893", source="OMIM:609893"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0018612 {source="DOID:0070127", source="MESH:C567935", source="MONDO:indirect"} ! congenital hypothyroidism
is_a: MONDO:0019995 {source="Orphanet:97927/btnt"} ! peripheral resistance to thyroid hormones

[Term]
id: MONDO:0012361
name: systemic lupus erythematosus, susceptibility to, 5
subset: predisposition
synonym: "SLEB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609903]
synonym: "systemic lupus erythematosus, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:609903]
xref: MEDGEN:322783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609903 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:609903"}
xref: UMLS:C1835929 {source="MEDGEN:322783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0012362
name: dilated cardiomyopathy 1P
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15469", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1P" EXACT [MONDO:Lexical, OMIM:609909]
synonym: "cardiomyopathy, dilated, type 1P" EXACT [MONDORULE:4, OMIM:609909]
synonym: "CMD1P" EXACT ABBREVIATION [DOID:0110439, MONDO:Lexical, OMIM:609909]
synonym: "dilated cardiomyopathy type 1P" EXACT [DOID:0110439, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern]
synonym: "PLN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110439 {source="MONDO:equivalentTo"}
xref: GARD:15469 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110439"}
xref: MEDGEN:322782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563690 {source="MONDO:equivalentTo"}
xref: OMIM:609909 {source="DOID:0110439", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:609909"}
xref: UMLS:C1835928 {source="MEDGEN:322782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:609909"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9080 {source="MONDO:mim2gene_medgen"} ! PLN

[Term]
id: MONDO:0012363
name: retinitis pigmentosa 32
def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3." [DOID:0110355, PMID:16189710]
subset: gard_rare {source="GARD:10395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "retinitis pigmentosa 32" EXACT [MONDO:Lexical, OMIM:609913]
synonym: "retinitis pigmentosa type 32" EXACT [DOID:0110355, MONDORULE:2]
synonym: "RP32" EXACT ABBREVIATION [DOID:0110355, GARD:0010395, MONDO:Lexical, OMIM:609913]
xref: DOID:0110355 {source="MONDO:equivalentTo"}
xref: GARD:10395 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110355"}
xref: MEDGEN:322781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563689 {source="MONDO:equivalentTo"}
xref: OMIM:609913 {source="MONDO:equivalentTo", source="DOID:0110355"}
xref: UMLS:C1835927 {source="MEDGEN:322781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:609913", source="DOID:0110355", source="MESH:C563689", source="OMIM:609913"} ! retinitis pigmentosa
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10395/retinitis-pigmentosa-32" xsd:anyURI {source="GARD:0010395"}

[Term]
id: MONDO:0012364
name: dilated cardiomyopathy 1Q
def: "A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1." [DOID:0110442, PMID:16228230]
subset: gard_rare {source="GARD:15470", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1Q" RELATED [MONDO:Lexical, OMIM:609915]
synonym: "CMD1Q" EXACT ABBREVIATION [DOID:0110442, MONDO:Lexical, OMIM:609915]
synonym: "dilated cardiomyopathy type 1Q" EXACT [DOID:0110442, MONDORULE:4]
xref: DOID:0110442 {source="MONDO:equivalentTo"}
xref: GARD:15470 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110442"}
xref: MEDGEN:332088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563688 {source="MONDO:equivalentTo"}
xref: OMIM:609915 {source="MONDO:equivalentTo", source="DOID:0110442"}
xref: UMLS:C1835926 {source="MEDGEN:332088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:609915"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0012365
name: gallbladder disease 2
synonym: "gallbladder disease 2" EXACT [MONDO:Lexical, OMIM:609918]
synonym: "GBD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609918]
xref: MEDGEN:372160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563687 {source="MONDO:equivalentTo"}
xref: OMIM:609918 {source="MONDO:equivalentTo"}
xref: UMLS:C1835925 {source="MEDGEN:372160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005281 {source="DC-OMIM:609918", source="OMIM:609918"} ! gallbladder disorder

[Term]
id: MONDO:0012366
name: gallbladder disease 3
synonym: "gallbladder disease 3" EXACT [MONDO:Lexical, OMIM:609919]
synonym: "GBD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609919]
xref: MEDGEN:332087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563686 {source="MONDO:equivalentTo"}
xref: OMIM:609919 {source="MONDO:equivalentTo"}
xref: UMLS:C1835924 {source="MEDGEN:332087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005281 {source="DC-OMIM:609919", source="OMIM:609919"} ! gallbladder disorder

[Term]
id: MONDO:0012367
name: retinitis pigmentosa 31
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10396", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 31" EXACT [MONDO:Lexical, OMIM:609923]
synonym: "retinitis pigmentosa caused by mutation in TOPORS" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 31" EXACT [DOID:0110391, MONDORULE:2, OMIM:609923]
synonym: "RP 31" RELATED [GARD:0010396]
synonym: "RP31" EXACT ABBREVIATION [DOID:0110391, MONDO:Lexical, OMIM:609923]
synonym: "TOPORS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110391 {source="MONDO:equivalentTo"}
xref: GARD:10396 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110391"}
xref: MEDGEN:372159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563685 {source="MONDO:equivalentTo"}
xref: OMIM:609923 {source="MONDO:equivalentTo", source="DOID:0110391"}
xref: UMLS:C1835923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372159"}
is_a: MONDO:0019200 {source="DC-OMIM:609923", source="DOID:0110391", source="MESH:C563685", source="MONDO:Redundant", source="OMIM:609923"} ! retinitis pigmentosa
is_a: MONDO:0700233 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! TOPORS-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21653 ! TOPORS
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21653 {source="MONDO:mim2gene_medgen"} ! TOPORS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31" xsd:anyURI {source="GARD:0010396"}

[Term]
id: MONDO:0012368
name: aminoacylase 1 deficiency
def: "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms." [Orphanet:137754]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137754"}
subset: orphanet_rare {source="Orphanet:137754"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACY1 deficiency" RELATED [GARD:0009741]
synonym: "ACY1D" EXACT ABBREVIATION [GARD:0009741, MESH:C538246, MONDO:Lexical, OMIM:609924, Orphanet:137754]
synonym: "aminoacylase 1 deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609924]
synonym: "deficiency of the aminoacylase-1 enzyme" RELATED [GARD:0009741, MESH:C538246]
synonym: "N-acyl-L-amino acid amidohydrolase deficiency" EXACT [Orphanet:137754]
synonym: "neurological conditions associated with aminoacylase 1 deficiency" EXACT [Orphanet:137754]
xref: EFO:1001981 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9741 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:137754", source="Orphanet:137754/attributed", source="Orphanet:137754/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:324393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538246 {source="MONDO:equivalentTo"}
xref: OMIM:609924 {source="Orphanet:137754", source="MONDO:equivalentTo", source="Orphanet:137754/e", source="GARD:0009741"}
xref: Orphanet:137754 {source="OMIM:609924", source="MONDO:equivalentTo", source="GARD:0009741"}
xref: SCTID:709282004 {source="MONDO:equivalentTo"}
xref: UMLS:C1835922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324393"}
is_a: MONDO:0004736 {source="MESH:C538246", source="MONDO:Redundant", source="PMID:33340416"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0017686 {source="EFO:1001981", source="Orphanet:137754"} ! inborn aminoacylase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/177 {source="MONDO:mim2gene_medgen"} ! ACY1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency" xsd:anyURI {source="GARD:0009741"}

[Term]
id: MONDO:0012369
name: systemic lupus erythematosus, susceptibility to, 6
subset: predisposition
synonym: "SLEB6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609939]
synonym: "systemic lupus erythematosus, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:609939]
xref: MEDGEN:332086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609939 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:609939"}
xref: UMLS:C1835919 {source="MEDGEN:332086", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 {source="MONDO:mim2gene_medgen"} ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6149 {source="MONDO:mim2gene_medgen"} ! ITGAM
intersection_of: predisposes_towards MONDO:0007915 {source="MONDO:mim2gene_medgen"} ! systemic lupus erythematosus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6149 {source="MONDO:mim2gene_medgen"} ! ITGAM

[Term]
id: MONDO:0012370
name: autosomal recessive nonsyndromic hearing loss 51
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12." [DOID:0110508, PMID:16158433]
subset: gard_rare {source="GARD:9918", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 51" NARROW [DOID:0110508]
synonym: "autosomal recessive nonsyndromic deafness 51" NARROW [OMIM:609941]
synonym: "autosomal recessive nonsyndromic deafness type 51" NARROW [DOID:0110508, MONDORULE:2]
synonym: "deafness, autosomal recessive 51" NARROW [MONDO:Lexical, OMIM:609941, OMIM:genemap2]
synonym: "DFNB51" NARROW ABBREVIATION [DOID:0110508, MONDO:Lexical, OMIM:609941]
xref: DOID:0110508 {source="MONDO:equivalentTo"}
xref: GARD:9918 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110508"}
xref: MEDGEN:355880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538202 {source="MONDO:equivalentTo"}
xref: OMIM:609941 {source="MONDO:equivalentTo", source="DOID:0110508"}
xref: UMLS:C1864968 {source="MEDGEN:355880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:609941", source="DOID:0110508", source="OMIM:609941"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012371
name: Noonan syndrome 3
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KRAS gene related Noonan syndrome" EXACT [GARD:0009885]
synonym: "KRAS Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Noonan syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609942]
synonym: "Noonan syndrome caused by mutation in KRAS" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 3" EXACT [DOID:0060581, MONDORULE:1, OMIM:609942]
synonym: "NS3" EXACT ABBREVIATION [DOID:0060581, MONDO:Lexical, OMIM:609942]
xref: DOID:0060581 {source="MONDO:equivalentTo"}
xref: GARD:9885 {source="MONDO:GARD"}
xref: MEDGEN:349931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537847 {source="MONDO:equivalentTo"}
xref: NCIT:C176931 {source="MONDO:equivalentTo"}
xref: OMIM:609942 {source="MONDO:equivalentTo", source="DOID:0060581"}
xref: Orphanet:648 {source="OMIM:609942"}
xref: UMLS:C1860991 {source="MEDGEN:349931", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018997 {source="DC-OMIM:609942", source="DOID:0060581", source="MESH:C537847", source="MONDO:Redundant", source="OMIM:609942"} ! Noonan syndrome
intersection_of: MONDO:0018997 ! Noonan syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 ! KRAS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 {source="MONDO:mim2gene_medgen"} ! KRAS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3" xsd:anyURI {source="GARD:0009885"}

[Term]
id: MONDO:0012372
name: obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
is_obsolete: true
replaced_by: MONDO:0007617

[Term]
id: MONDO:0012373
name: ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
synonym: "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" EXACT [OMIM:609944]
xref: MEDGEN:355878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536182 {source="MONDO:equivalentTo"}
xref: OMIM:609944 {source="MONDO:equivalentTo"}
xref: UMLS:C1864966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355878"}
is_a: MONDO:0003847 {source="MESH:C536182/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9939/ectodermal-dysplasia-sensorineural-hearing-loss-and-distinctive-facial-features" xsd:anyURI {source="GARD:0009939"}

[Term]
id: MONDO:0012374
name: brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
synonym: "brachyphalangy, polydactyly and absent tibiae" RELATED [GARD:0009893]
synonym: "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" EXACT [OMIM:609945]
xref: MEDGEN:355340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537100 {source="MONDO:equivalentTo"}
xref: OMIM:609945 {source="MONDO:equivalentTo"}
xref: UMLS:C1864965 {source="MEDGEN:355340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9893/brachyphalangy-polydactyly-and-tibial-aplasiahypoplasia" xsd:anyURI {source="GARD:0009893"}

[Term]
id: MONDO:0012375
name: autosomal recessive nonsyndromic hearing loss 47
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3." [DOID:0110504, PMID:16261342]
subset: gard_rare {source="GARD:9935", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 47" NARROW [DOID:0110504]
synonym: "autosomal recessive nonsyndromic deafness 47" NARROW [OMIM:609946]
synonym: "autosomal recessive nonsyndromic deafness type 47" NARROW [DOID:0110504, MONDORULE:2]
synonym: "deafness, autosomal recessive 47" NARROW [MONDO:Lexical, OMIM:609946]
synonym: "deafness, neurosensory, autosomal recessive 47" EXACT [GARD:0009935, OMIM:609946, OMIM:genemap2]
synonym: "DFNB47" NARROW ABBREVIATION [DOID:0110504, MONDO:Lexical, OMIM:609946]
xref: DOID:0110504 {source="MONDO:equivalentTo"}
xref: GARD:9935 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110504"}
xref: MEDGEN:355339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566498 {source="MONDO:equivalentTo"}
xref: OMIM:609946 {source="DOID:0110504", source="MONDO:equivalentTo"}
xref: UMLS:C1864964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355339"}
is_a: MONDO:0019588 {source="DC-OMIM:609946", source="DOID:0110504", source="OMIM:609946"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012376
name: autosomal recessive nonsyndromic hearing loss 55
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2." [DOID:0110510, PMID:16098016]
subset: gard_rare {source="GARD:9919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 55" NARROW [DOID:0110510]
synonym: "autosomal recessive nonsyndromic deafness 55" NARROW [OMIM:609952]
synonym: "autosomal recessive nonsyndromic deafness type 55" NARROW [DOID:0110510, MONDORULE:2]
synonym: "deafness, autosomal recessive 55" NARROW [MONDO:Lexical, OMIM:609952, OMIM:genemap2]
synonym: "DFNB55" NARROW ABBREVIATION [DOID:0110510, MONDO:Lexical, OMIM:609952]
xref: DOID:0110510 {source="MONDO:equivalentTo"}
xref: GARD:9919 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110510"}
xref: MEDGEN:355338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538203 {source="MONDO:equivalentTo"}
xref: OMIM:609952 {source="MONDO:equivalentTo", source="DOID:0110510"}
xref: UMLS:C1864962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355338"}
is_a: MONDO:0019588 {source="DC-OMIM:609952", source="DOID:0110510", source="OMIM:609952"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012377
name: asperger syndrome, susceptibility to, 4
subset: predisposition
synonym: "Asperger syndrome susceptibility 4" EXACT [OMIM:609954, OMIM:genemap2]
synonym: "ASPERGER syndrome, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:609954]
synonym: "ASPG4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609954]
xref: MEDGEN:400650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609954 {source="MONDO:equivalentTo"}
xref: Orphanet:1162 {source="OMIM:609954"}
xref: UMLS:C1864961 {source="MEDGEN:400650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100440 {source="OMIM:609954", source="https://orcid.org/0000-0001-5208-3432"} ! Asperger syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005259 {source="OMIM:609954", source="https://orcid.org/0000-0001-5208-3432"} ! Asperger syndrome
relationship: predisposes_towards MONDO:0005259 {source="OMIM:609954"} ! Asperger syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012378
name: fibromatosis, gingival, 3
subset: gard_rare {source="GARD:9911", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibromatosis gingival, hereditary, 3" RELATED [GARD:0009911]
synonym: "fibromatosis, gingival, 3" EXACT [MONDO:Lexical, OMIM:609955]
synonym: "fibromatosis, gingival, hereditary, 3" RELATED [OMIM:609955]
synonym: "GGF3" RELATED ABBREVIATION [OMIM:609955]
synonym: "GINGF3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609955]
synonym: "gingival fibromatosis, 3" RELATED [GARD:0009911]
synonym: "hereditary gingival fibromatosis, 3" RELATED [GARD:0009911]
synonym: "HGF3" RELATED ABBREVIATION [GARD:0009911]
xref: GARD:9911 {source="MONDO:GARD"}
xref: MEDGEN:351261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537928 {source="MONDO:equivalentTo"}
xref: OMIM:609955 {source="MONDO:equivalentTo"}
xref: Orphanet:2024 {source="OMIM:609955"}
xref: UMLS:C1864960 {source="MEDGEN:351261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016070 {source="DC-OMIM:609955", source="OMIM:609955"} ! hereditary gingival fibromatosis

[Term]
id: MONDO:0012379
name: asthma-related traits, susceptibility to, 3
subset: predisposition
synonym: "ASRT3" RELATED ABBREVIATION [OMIM:609958]
synonym: "asthma-related traits, susceptibility to, 3" EXACT [OMIM:609958]
synonym: "asthma-related traits, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609958]
xref: MEDGEN:355337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609958 {source="MONDO:equivalentTo"}
xref: UMLS:C1864959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355337"}
is_a: MONDO:0010940 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma

[Term]
id: MONDO:0012380
name: autosomal dominant nonsyndromic hearing loss 53
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12." [DOID:0110579, PMID:15958501]
subset: gard_rare {source="GARD:9934", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 53" NARROW [DOID:0110579]
synonym: "autosomal dominant nonsyndromic deafness 53" NARROW [OMIM:609965]
synonym: "autosomal dominant nonsyndromic deafness type 53" NARROW [DOID:0110579, MONDORULE:2]
synonym: "deafness, autosomal dominant 53" NARROW [MONDO:Lexical, OMIM:609965, OMIM:genemap2]
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 53" NARROW [GARD:0009934]
synonym: "DFNA53" NARROW ABBREVIATION [DOID:0110579, MONDO:Lexical, OMIM:609965]
xref: DOID:0110579 {source="MONDO:equivalentTo"}
xref: GARD:9934 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110579"}
xref: MEDGEN:355336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566495 {source="MONDO:equivalentTo"}
xref: OMIM:609965 {source="DOID:0110579", source="MONDO:equivalentTo"}
xref: UMLS:C1864957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355336"}
is_a: MONDO:0019587 {source="DC-OMIM:609965", source="DOID:0110579", source="OMIM:609965"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012381
name: hyperinsulinism due to INSR deficiency
def: "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." [Orphanet:263458]
subset: gard_rare {source="GARD:17256", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263458"}
subset: orphanet_rare {source="Orphanet:263458"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HHF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609968]
synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [Orphanet:263458]
synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT [Orphanet:263458]
synonym: "hyperinsulinemic hypoglycemia, familial, 5" RELATED [MONDO:Lexical, OMIM:609968]
synonym: "hyperinsulinemic hypoglycemia, familial, type 5" EXACT [MONDORULE:1, OMIM:609968]
xref: DOID:0070220 {source="MONDO:equivalentTo"}
xref: GARD:17256 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:263458/attributed", source="Orphanet:263458/ntbt", source="Orphanet:263458"}
xref: MEDGEN:355335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566494 {source="MONDO:equivalentTo"}
xref: OMIM:609968 {source="Orphanet:263458/e", source="MONDO:equivalentTo", source="Orphanet:263458"}
xref: Orphanet:263458 {source="OMIM:609968", source="MONDO:equivalentTo"}
xref: SCTID:721235003 {source="MONDO:equivalentTo"}
xref: UMLS:C1864952 {source="MEDGEN:355335", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005803 {source="DC-OMIM:609968"} ! hyperinsulinemic hypoglycemia
is_a: MONDO:0017182 {source="Orphanet:263458"} ! familial hyperinsulinism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6091 {source="MONDO:mim2gene_medgen"} ! INSR

[Term]
id: MONDO:0012382
name: hyperinsulinemic hypoglycemia, familial, 4
def: "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9870", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71212"}
subset: orphanet_rare {source="Orphanet:71212"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-alpha hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870]
synonym: "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310]
synonym: "3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:231530]
synonym: "3-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310]
synonym: "3-hydroxylacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870]
synonym: "had deficiency" RELATED [MESH:C535310]
synonym: "HADH deficiency" RELATED [GARD:0009870, MESH:C535310, OMIM:231530]
synonym: "HADH hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "HADHSC deficiency" RELATED [MESH:C535310]
synonym: "HHF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609975]
synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to HADH deficiency" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [Orphanet:71212]
synonym: "hyperinsulinemic hypoglycemia, familial, 4" EXACT [MONDO:Lexical, OMIM:609975]
synonym: "hyperinsulinemic hypoglycemia, familial, type 4" EXACT [MONDORULE:1, OMIM:609975]
synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT [Orphanet:71212]
synonym: "hyperinsulinism due to SCHAD deficiency" EXACT [Orphanet:71212]
synonym: "hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency" EXACT []
synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:0009278]
synonym: "L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency" RELATED [MESH:C535310]
synonym: "M-SCHAD deficiency" RELATED [MESH:C535310]
synonym: "M/SCHAD" RELATED [GARD:0009870]
synonym: "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870]
synonym: "SCHAD deficiency" RELATED [MESH:C535310, OMIM:231530, Orphanet:71212]
synonym: "SCHAD deficiency, formerly" RELATED [OMIM:231530]
xref: DOID:0070215 {source="MONDO:equivalentTo"}
xref: GARD:9870 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:71212/attributed", source="Orphanet:71212/ntbt", source="Orphanet:71212"}
xref: MEDGEN:400646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535310 {source="MONDO:relatedTo"}
xref: MESH:C566493 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:609975 {source="Orphanet:71212", source="MONDO:equivalentTo", source="Orphanet:71212/e"}
xref: Orphanet:71212 {source="MONDO:equivalentTo", source="GARD:0009870", source="OMIM:231530", source="OMIM:609975"}
xref: SCTID:721236002 {source="MONDO:equivalentTo"}
xref: UMLS:C1864948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400646"}
is_a: MONDO:0005803 {source="DC-OMIM:609975", source="MONDO:Redundant"} ! hyperinsulinemic hypoglycemia
is_a: MONDO:0015624 {source="Orphanet:71212"} ! diazoxide-sensitive diffuse hyperinsulinism
is_a: MONDO:0019052 {source="MESH:C535310", source="Orphanet:71212/inferred"} ! inborn errors of metabolism
intersection_of: MONDO:0005803 ! hyperinsulinemic hypoglycemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4799 ! HADH
relationship: excluded_subClassOf MONDO:0017715 {source="Orphanet:71212", source="https://orcid.org/0000-0001-5208-3432"} ! 3-hydroxyacyl-CoA dehydrogenase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4799 {source="MONDO:mim2gene_medgen"} ! HADH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3977" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0009870"}

[Term]
id: MONDO:0012383
name: primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
def: "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21." [Orphanet:75391]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75391"}
subset: orphanet_rare {source="Orphanet:75391"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD54" RELATED ABBREVIATION [OMIM:609981]
synonym: "immunodeficiency 54" RELATED [OMIM:609981]
synonym: "mini-chromosome maintenance 4" EXACT [NCIT:C123729]
synonym: "natural KILLER cell and glucocorticoid deficiency with DNA repair defect" RELATED [MONDO:Lexical, OMIM:609981]
synonym: "natural Killer cell deficiency, familial isolated" RELATED [OMIM:609981]
synonym: "NKGCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609981]
synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [Orphanet:75391]
xref: DOID:0111967 {source="MONDO:equivalentTo"}
xref: GARD:16695 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:75391", source="Orphanet:75391/attributed", source="Orphanet:75391/ntbt"}
xref: MEDGEN:351256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566492 {source="MONDO:equivalentTo"}
xref: NANDO:2200771 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123729 {source="MONDO:equivalentTo"}
xref: OMIM:609981 {source="MONDO:equivalentTo", source="Orphanet:75391", source="Orphanet:75391/e"}
xref: Orphanet:75391 {source="MONDO:equivalentTo", source="OMIM:609981"}
xref: SCTID:724275005 {source="MONDO:equivalentTo"}
xref: UMLS:C1864947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351256"}
is_a: MONDO:0021094 {source="NCIT:C123729"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6947 {source="MONDO:mim2gene_medgen"} ! MCM4

[Term]
id: MONDO:0012384
name: panic disorder 3
synonym: "Pand3" RELATED [OMIM:609985]
synonym: "panic disorder 3" EXACT [OMIM:609985]
synonym: "panic disorder susceptibility locus, chromosome 4Q-related" RELATED [OMIM:609985]
synonym: "panic disorder type 3" EXACT [MONDORULE:1, OMIM:609985]
xref: MEDGEN:400645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609985 {source="MONDO:equivalentTo"}
xref: UMLS:C1864946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400645"}
is_a: MONDO:0003847 {source="OMIM:609985"} ! hereditary disease
is_a: MONDO:0031240 {source="DC-OMIM:609985", source="OMIM:609985"} ! familial panic disorder

[Term]
id: MONDO:0012385
name: metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
synonym: "cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly" RELATED [OMIM:609989]
synonym: "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" EXACT [OMIM:609989]
xref: MEDGEN:355877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537354 {source="MONDO:equivalentTo"}
xref: OMIM:609989 {source="MONDO:equivalentTo"}
xref: UMLS:C1864944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355877"}
is_a: MONDO:0003847 {source="MESH:C537354/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9942/metaphyseal-chondrodysplasia-with-cone-shaped-epiphyses-normal-hair-and-normal-hands" xsd:anyURI {source="GARD:0009942"}

[Term]
id: MONDO:0012386
name: trichoscyphodysplasia
synonym: "cupped metaphyses and cone-Shaped epiphyses with alopecia" RELATED [OMIM:609990]
synonym: "metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia" RELATED [OMIM:609990]
synonym: "metaphyseal chondrodysplasia with ectodermal dysplasia" RELATED [OMIM:609990]
synonym: "Trichoscyphodysplasia" EXACT [OMIM:609990]
xref: MEDGEN:355876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536557 {source="MONDO:equivalentTo"}
xref: OMIM:609990 {source="MONDO:equivalentTo"}
xref: UMLS:C1864943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355876"}
is_a: MONDO:0003847 {source="MESH:C536557/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia" xsd:anyURI {source="GARD:0009861"}

[Term]
id: MONDO:0012387
name: osteosclerosis-ichthyosis-premature ovarian failure syndrome
def: "This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." [Orphanet:75325]
subset: gard_rare {source="GARD:9904", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:75325"}
subset: orphanet_rare {source="Orphanet:75325"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteosclerosis with ichthyosis and POF" RELATED [GARD:0009904]
synonym: "osteosclerosis with ichthyosis and premature ovarian failure" RELATED [OMIM:609993]
synonym: "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" RELATED [OMIM:609993]
synonym: "sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome" EXACT [Orphanet:75325]
xref: GARD:9904 {source="MONDO:GARD"}
xref: MEDGEN:355875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536064 {source="Orphanet:75325", source="MONDO:equivalentTo", source="Orphanet:75325/e"}
xref: OMIM:609993 {source="Orphanet:75325", source="MONDO:equivalentTo", source="Orphanet:75325/e"}
xref: Orphanet:75325 {source="MONDO:equivalentTo", source="OMIM:609993"}
xref: SCTID:722114007 {source="MONDO:equivalentTo"}
xref: UMLS:C1864942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355875"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:609993"} ! hereditary disease
is_a: MONDO:0019852 {source="Orphanet:75325"} ! inherited primary ovarian failure
relationship: disease_has_feature HP:0011001 {source="Orphanet:75325"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:75325", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012388
name: myopia 11, autosomal dominant
synonym: "myopia 11" EXACT [OMIM:609994, OMIM:genemap2]
synonym: "myopia 11, autosomal dominant" EXACT [MONDO:Lexical, OMIM:609994]
synonym: "MYP11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609994]
xref: MEDGEN:355874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566490 {source="MONDO:equivalentTo"}
xref: OMIM:609994 {source="MONDO:equivalentTo"}
xref: UMLS:C1864941 {source="MEDGEN:355874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:609994", source="MESH:C566490", source="OMIM:609994"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012389
name: myopia 12, autosomal dominant
synonym: "myopia 12" EXACT [OMIM:609995, OMIM:genemap2]
synonym: "myopia 12, autosomal dominant" EXACT [MONDO:Lexical, OMIM:609995]
synonym: "MYP12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609995]
xref: MEDGEN:355332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566489 {source="MONDO:equivalentTo"}
xref: OMIM:609995 {source="MONDO:equivalentTo"}
xref: UMLS:C1864940 {source="MEDGEN:355332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:609995", source="MESH:C566489", source="OMIM:609995"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012390
name: arthrogryposis multiplex with deafness, inguinal hernias, and early death
synonym: "arthrogryposis multiplex with deafness, inguinal hernias, and early death" EXACT [OMIM:610001]
xref: MEDGEN:400644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535381 {source="MONDO:equivalentTo"}
xref: OMIM:610001 {source="MONDO:equivalentTo"}
xref: UMLS:C1864939 {source="MEDGEN:400644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9946/arthrogryposis-multiplex-with-deafness-inguinal-hernias-and-early-death" xsd:anyURI {source="GARD:0009946"}

[Term]
id: MONDO:0012391
name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant
def: "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." [Orphanet:1947]
subset: gard_rare {source="GARD:4010", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1947"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:530298"}
subset: orphanet_rare {source="Orphanet:1947"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis neuronal 8" RELATED [GARD:0004010]
synonym: "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant" RELATED [OMIM:610003]
synonym: "CLN8" RELATED ABBREVIATION [GARD:0004010]
synonym: "CLN8 disease, EPMR (subtype)" RELATED [GARD:0004010]
synonym: "CLN8 disease, late infantile (subtype)" RELATED [GARD:0004010]
synonym: "CLN8 disease, Northern epilepsy variant" EXACT [Orphanet:1947]
synonym: "early onset familial encephalopathy with neuroserpin inclusion bodies" EXACT [Orphanet:530298]
synonym: "epilepsy mental deterioration Finnish type" RELATED [GARD:0002163]
synonym: "epilepsy, progressive, with intellectual disability" RELATED [OMIM:610003]
synonym: "epilepsy, progressive, with mental retardation" RELATED DEPRECATED [OMIM:610003]
synonym: "EPMR" EXACT ABBREVIATION [DOID:0110724]
synonym: "NCL, Northern epilepsy variant" EXACT [Orphanet:1947]
synonym: "neuronal ceroid lipofuscinosis 8" RELATED [GARD:0004010]
synonym: "neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [Orphanet:1947]
synonym: "Northern epilepsy" EXACT [OMIM:610003, Orphanet:1947]
synonym: "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [DOID:0110724]
synonym: "progressive epilepsy - intellectual disability, Finnish type" RELATED [GARD:0004010]
synonym: "progressive epilepsy with intellectual disability, northern epilepsy" EXACT [DOID:0110724]
synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT DEPRECATED [DOID:0110724]
synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [DOID:0110724, GARD:0004010]
synonym: "progressive myoclonic epilepsy with neuroserpin inclusion bodies" EXACT [MONDO:0035160]
xref: DOID:0110724 {source="MONDO:equivalentTo"}
xref: GARD:4010 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110724", source="Orphanet:1947/attributed", source="Orphanet:1947/ntbt", source="Orphanet:1947"}
xref: ICD10CM:G40.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:530298"}
xref: MEDGEN:355328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610003 {source="Orphanet:1947/e", source="DOID:0110724", source="MONDO:equivalentTo", source="Orphanet:1947"}
xref: Orphanet:1947 {source="OMIM:610003", source="DOID:0110724", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="GARD:0004010"}
xref: Orphanet:530298 {source="MONDO:equivalentTo"}
xref: UMLS:C1864923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355328"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015653 {source="Orphanet:1947"} ! monogenic epilepsy
is_a: MONDO:0016295 {source="DC-OMIM:610003", source="DOID:0110724", source="OMIM:610003", source="Orphanet:1947"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020074 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! progressive myoclonus epilepsy
relationship: excluded_subClassOf MONDO:0020074 {source="Orphanet:1947", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2079 {source="MONDO:mim2gene_medgen"} ! CLN8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6406" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type" xsd:anyURI {source="GARD:0002163"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy" xsd:anyURI {source="GARD:0004010"}

[Term]
id: MONDO:0012392
name: 2-methylbutyryl-CoA dehydrogenase deficiency
def: "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported." [Orphanet:79157]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10322", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79157"}
subset: orphanet_rare {source="Orphanet:79157"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2-methylbutyric aciduria" EXACT [Orphanet:79157]
synonym: "2-methylbutyryl Glycinuria" RELATED [OMIM:610006]
synonym: "2-methylbutyryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [OMIM:610006]
synonym: "2-methylbutyrylglycinuria" EXACT [OMIM:610006, OMIM:genemap2]
synonym: "butyryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98863]
synonym: "developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" EXACT [Orphanet:79157]
synonym: "SBCAD deficiency" EXACT [Orphanet:79157]
synonym: "short branched-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0010322]
synonym: "short/branched-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:610006]
synonym: "short/branched-chain acyl-coA dehydrogenase deficiency" EXACT [Orphanet:79157]
xref: GARD:10322 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:79157/attributed", source="Orphanet:79157/ntbt", source="Orphanet:79157"}
xref: MEDGEN:355324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566487 {source="MONDO:equivalentTo"}
xref: NCIT:C98863 {source="MONDO:equivalentTo"}
xref: OMIM:610006 {source="Orphanet:79157/e", source="MONDO:equivalentTo", source="Orphanet:79157"}
xref: Orphanet:79157 {source="MONDO:equivalentTo", source="OMIM:610006"}
xref: UMLS:C1864912 {source="MEDGEN:355324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0019215 {source="Orphanet:79157"} ! classic organic aciduria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/91 {source="MONDO:mim2gene_medgen"} ! ACADSB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0010322"}

[Term]
id: MONDO:0012393
name: congenital brain dysgenesis due to glutamine synthetase deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9848", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71278"}
subset: orphanet_rare {source="Orphanet:71278"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital brain dysgenesis due to glutamine synthetase deficiency" EXACT CLINGEN_LABEL []
synonym: "congenital glutamine deficiency" RELATED [GARD:0009848]
synonym: "glutamine deficiency, congenital" RELATED [OMIM:610015]
synonym: "glutamine synthase deficiency, congenital systemic" RELATED [OMIM:610015]
synonym: "glutamine synthetase deficiency, congenital systemic" RELATED [GARD:0009848]
synonym: "inherited glutamine synthetase deficiency" EXACT [Orphanet:71278]
synonym: "inherited GS deficiency" EXACT [Orphanet:71278]
xref: DOID:0070544 {source="MONDO:equivalentTo"}
xref: GARD:9848 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:71278/attributed", source="Orphanet:71278/ntbt", source="Orphanet:71278"}
xref: MEDGEN:400638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536832 {source="MONDO:equivalentTo"}
xref: OMIM:610015 {source="Orphanet:71278", source="MONDO:equivalentTo", source="Orphanet:71278/e"}
xref: Orphanet:71278 {source="MONDO:equivalentTo", source="OMIM:610015"}
xref: UMLS:C1864910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400638"}
is_a: MONDO:0017352 {source="Orphanet:71278"} ! disorder of glutamine metabolism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4341 {source="MONDO:mim2gene_medgen"} ! GLUL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012394
name: multiple synostoses syndrome 2
def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9916", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDF5 multiple synostoses syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple synostoses syndrome 2" EXACT [MONDO:Lexical, OMIM:610017]
synonym: "multiple synostoses syndrome caused by mutation in GDF5" EXACT [MONDO:design_pattern]
synonym: "multiple synostoses syndrome type 2" EXACT [MONDORULE:1, OMIM:610017]
synonym: "SYNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610017]
xref: DOID:0081318 {source="MONDO:equivalentTo"}
xref: GARD:9916 {source="MONDO:GARD"}
xref: MEDGEN:331348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537380 {source="MONDO:equivalentTo"}
xref: OMIM:610017 {source="MONDO:equivalentTo"}
xref: Orphanet:3237 {source="OMIM:610017"}
xref: UMLS:C1832708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331348"}
is_a: MONDO:0017923 {source="DC-OMIM:610017", source="MONDO:Redundant", source="OMIM:610017"} ! multiple synostoses syndrome
intersection_of: MONDO:0017923 ! multiple synostoses syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 ! GDF5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2" xsd:anyURI {source="GARD:0009916"}

[Term]
id: MONDO:0012395
name: cataract 18
def: "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9892", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive congenital cataract 2" EXACT [DOID:0110238]
synonym: "cataract (disease) caused by mutation in FYCO1" EXACT []
synonym: "cataract 18" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610019]
synonym: "cataract 18 autosomal recessive" EXACT [DOID:0110238]
synonym: "cataract 18, autosomal recessive" EXACT [OMIM:610019, OMIM:genemap2]
synonym: "cataract type 18" EXACT [DOID:0110238, MONDORULE:2, OMIM:610019]
synonym: "cataract, autosomal recessive congenital 2" RELATED [OMIM:610019]
synonym: "CATC2" EXACT ABBREVIATION [DOID:0110238]
synonym: "CTRCT18" EXACT ABBREVIATION [DOID:0110238, MONDO:Lexical, OMIM:610019]
synonym: "FYCO1 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110238 {source="MONDO:equivalentTo"}
xref: GARD:9892 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110238"}
xref: MEDGEN:351249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535337 {source="MONDO:equivalentTo"}
xref: OMIM:610019 {source="DOID:0110238", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:610019"}
xref: Orphanet:98991 {source="OMIM:610019"}
xref: UMLS:C1864908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351249"}
is_a: MONDO:0005129 {source="DOID:0110238", source="MESH:C535337", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:610019"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14673 ! FYCO1
relationship: excluded_subClassOf MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset non-syndromic cataract
relationship: excluded_subClassOf MONDO:0020376 {source="Orphanet:98991/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset nuclear cataract
relationship: excluded_subClassOf MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset partial cataract
relationship: excluded_subClassOf MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! early-onset zonular cataract
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14673 {source="MONDO:mim2gene_medgen"} ! FYCO1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012396
name: exercise-induced hyperinsulinism
def: "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells." [Orphanet:165991]
subset: gard_rare {source="GARD:9932", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:165991"}
subset: orphanet_rare {source="Orphanet:165991"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EIHI" EXACT ABBREVIATION [Orphanet:165991]
synonym: "exercise induced hyperinsulinemic hypoglycemia" RELATED [GARD:0009932]
synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT [Orphanet:165991]
synonym: "HHF7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610021]
synonym: "hyperinsulinemic hypoglycemia exercise-induced" RELATED [GARD:0009932]
synonym: "hyperinsulinemic hypoglycemia familial 7" RELATED [GARD:0009932]
synonym: "hyperinsulinemic hypoglycemia, exercise-induced" RELATED [OMIM:610021]
synonym: "hyperinsulinemic hypoglycemia, familial, 7" RELATED [MONDO:Lexical, OMIM:610021]
synonym: "hyperinsulinemic hypoglycemia, familial, type 7" EXACT [MONDORULE:1, OMIM:610021]
synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT [Orphanet:165991]
synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [Orphanet:165991]
synonym: "MCT1 hyperinsulinism" EXACT [NCIT:C131839]
synonym: "monocarboxylate transporter 1 hyperinsulinism" EXACT [NCIT:C131839]
xref: DOID:0070214 {source="MONDO:equivalentTo"}
xref: GARD:9932 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:165991", source="Orphanet:165991/attributed", source="Orphanet:165991/ntbt"}
xref: MEDGEN:351246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538376 {source="MONDO:equivalentTo"}
xref: NCIT:C131839 {source="MONDO:equivalentTo"}
xref: OMIM:610021 {source="Orphanet:165991", source="MONDO:equivalentTo", source="Orphanet:165991/e"}
xref: Orphanet:165991 {source="OMIM:610021", source="MONDO:equivalentTo"}
xref: SCTID:715830008 {source="MONDO:equivalentTo"}
xref: UMLS:C1864902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351246"}
is_a: MONDO:0001933 {source="NCIT:C131839"} ! endocrine pancreas disorder
is_a: MONDO:0005803 {source="DC-OMIM:610021"} ! hyperinsulinemic hypoglycemia
is_a: MONDO:0015624 {source="Orphanet:165991"} ! diazoxide-sensitive diffuse hyperinsulinism
is_a: MONDO:0017706 {source="Orphanet:165991"} ! disorder of carbohydrate transmembrane transport and absorption
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10922 {source="MONDO:mim2gene_medgen"} ! SLC16A1

[Term]
id: MONDO:0012397
name: brachydactyly, coloboma, and anterior segment dysgenesis
synonym: "brachydactyly, coloboma, and anterior segment dysgenesis" EXACT [OMIM:610023]
xref: MEDGEN:355321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566484 {source="MONDO:equivalentTo"}
xref: OMIM:610023 {source="MONDO:equivalentTo"}
xref: UMLS:C1864901 {source="MEDGEN:355321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012398
name: retinal cone dystrophy 3A
comment: Editor note: TODO logical defs for achromatopsias
subset: gard_rare {source="GARD:10648", source="MONDO:GARD"}
subset: rare
synonym: "achromatopsia 6" RELATED [OMIM:610024]
synonym: "cone dystrophy with night blindness and supernormal rod responses PDE6H-related" RELATED [GARD:0010648]
synonym: "cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related" RELATED [OMIM:610024]
synonym: "RCD3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610024]
synonym: "retinal cone dystrophy 3" EXACT [OMIM:610024, OMIM:genemap2]
synonym: "retinal cone dystrophy 3A" EXACT [MONDO:Lexical, OMIM:610024]
synonym: "retinal cone dystrophy type 3A" EXACT [MONDORULE:4, OMIM:610024]
xref: DOID:0081025 {source="MONDO:equivalentTo"}
xref: GARD:10648 {source="MONDO:GARD"}
xref: MEDGEN:355864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566483 {source="MONDO:equivalentTo"}
xref: OMIM:610024 {source="MONDO:equivalentTo"}
xref: Orphanet:49382 {source="OMIM:610024"}
xref: UMLS:C1864900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355864"}
is_a: MONDO:0018852 {source="Orphanet:49382/btnt"} ! achromatopsia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8790 {source="MONDO:mim2gene_medgen"} ! PDE6H
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a" xsd:anyURI {source="GARD:0010648"}

[Term]
id: MONDO:0012399
name: complex cortical dysplasia with other brain malformations 7
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300573"}
subset: ordo_malformation_syndrome {source="Orphanet:300573"}
subset: orphanet_rare {source="Orphanet:300573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDCBM7" EXACT ABBREVIATION [DOID:0090132]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 7" EXACT [DOID:0090132, MONDORULE:1]
synonym: "cortical dysplasia, COMPLEX, with OTHER brain malformations 7" RELATED [OMIM:610031]
synonym: "cortical dysplasia, Complex, with Other brain malformations 7" RELATED [OMIM:610031]
synonym: "PMGYSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610031]
synonym: "polymicrogyria due to TUBB2B mutation" EXACT [DOID:0090132]
synonym: "polymicrogyria, symmetric or asymmetric" RELATED [MONDO:Lexical, OMIM:610031]
synonym: "TUBB2B complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090132 {source="MONDO:equivalentTo"}
xref: GARD:17375 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:300573", source="Orphanet:300573/attributed", source="Orphanet:300573/ntbt", source="DOID:0090132"}
xref: MEDGEN:765150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610031 {source="Orphanet:300573", source="DOID:0090132", source="MONDO:equivalentTo", source="Orphanet:300573/e"}
xref: Orphanet:208444 {source="OMIM:610031", source="DOID:0090132"}
xref: Orphanet:268940 {source="OMIM:610031"}
xref: Orphanet:300573 {source="OMIM:610031", source="DOID:0090132", source="MONDO:equivalentTo"}
xref: UMLS:C3552236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:765150"}
is_a: MONDO:0000904 {source="DOID:0090132", source="MONDO:Redundant", source="OMIM:610031"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0015159 {source="Orphanet:300573"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016162 {source="Orphanet:208444/btnt", source="Orphanet:300573"} ! bilateral frontal polymicrogyria
is_a: MONDO:0017091 {source="MONDO:Redundant", source="Orphanet:268940/btnt", source="Orphanet:300573/inferred"} ! bilateral polymicrogyria
intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30829 ! TUBB2B
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:300573", source="Orphanet:300573/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30829 {source="MONDO:mim2gene_medgen"} ! TUBB2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012400
name: cortical dysplasia-focal epilepsy syndrome
def: "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." [NCIT:C133743]
subset: gard_rare {source="GARD:16997", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163681"}
subset: orphanet_rare {source="Orphanet:163681"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDFE syndrome" EXACT [DOID:0090130, OMIM:610042]
synonym: "CDFES" EXACT ABBREVIATION [DOID:0090130, MONDO:Lexical, OMIM:610042]
synonym: "cortical dysplasia-focal epilepsy syndrome" EXACT [MONDO:Lexical, OMIM:610042]
synonym: "Pitt-Hopkins like syndrome 1" EXACT [OMIM:610042, OMIM:genemap2]
synonym: "Pitt-Hopkins-like syndrome 1" RELATED [OMIM:610042]
synonym: "PTHSL1" RELATED ABBREVIATION [OMIM:610042]
xref: DOID:0090130 {source="MONDO:equivalentTo"}
xref: GARD:16997 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:163681", source="DOID:0090130", source="Orphanet:163681/attributed", source="Orphanet:163681/ntbt"}
xref: MEDGEN:413258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567657 {source="MONDO:equivalentTo"}
xref: NCIT:C133743 {source="MONDO:equivalentTo"}
xref: OMIM:610042 {source="Orphanet:163681", source="DOID:0090130", source="MONDO:equivalentTo", source="Orphanet:163681/e"}
xref: Orphanet:163681 {source="OMIM:610042", source="DOID:0090130", source="MONDO:equivalentTo"}
xref: Orphanet:221150 {source="OMIM:610042"}
xref: UMLS:C2750246 {source="MEDGEN:413258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C133743"} ! syndromic disease
is_a: MONDO:0016377 {source="https://orcid.org/0000-0002-6601-2165"} ! Pitt-Hopkins-like syndrome
relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:163681", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13830 {source="MONDO:mim2gene_medgen"} ! CNTNAP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012401
name: congenital stromal corneal dystrophy
def: "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." [Orphanet:101068]
subset: gard_rare {source="GARD:16943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101068"}
subset: orphanet_rare {source="Orphanet:101068"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hereditary stromal dystrophy" EXACT [DOID:0060445, Orphanet:101068]
synonym: "congenital stromal corneal dystrophy" EXACT [OMIM:610048]
synonym: "corneal dystrophy, congenital stromal" RELATED [MONDO:Lexical, OMIM:610048]
synonym: "CSCD" EXACT ABBREVIATION [DOID:0060445, MONDO:Lexical, OMIM:610048, Orphanet:101068]
synonym: "Witschel dystrophy" EXACT [Orphanet:101068]
xref: DOID:0060445 {source="MONDO:equivalentTo"}
xref: GARD:16943 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:101068/attributed", source="Orphanet:101068/ntbt", source="Orphanet:101068", source="DOID:0060445"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:400601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566452 {source="MONDO:equivalentTo", source="DOID:0060445"}
xref: OMIM:610048 {source="Orphanet:101068", source="MONDO:equivalentTo", source="DOID:0060445", source="Orphanet:101068/e"}
xref: Orphanet:101068 {source="MONDO:equivalentTo", source="DOID:0060445", source="OMIM:610048"}
xref: SCTID:702359002 {source="MONDO:equivalentTo"}
xref: UMLS:C1864738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400601"}
is_a: MONDO:0020213 {source="DOID:0060445", source="Orphanet:101068"} ! stromal corneal dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2705 {source="MONDO:mim2gene_medgen"} ! DCN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012402
name: opioid dependence, susceptibility to, 1
subset: predisposition
synonym: "Ods1" RELATED [OMIM:610064]
synonym: "opioid dependence, susceptibility to, 1" EXACT [OMIM:610064]
synonym: "opioid dependence, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:610064]
xref: MEDGEN:400600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610064 {source="MONDO:equivalentTo"}
xref: UMLS:C1864733 {source="MEDGEN:400600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:610064", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005530 {source="OMIM:610064"} ! opiate dependence
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012403
name: systemic lupus erythematosus, susceptibility to, 7
subset: predisposition
synonym: "SLEB7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610065]
synonym: "systemic lupus erythematosus, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:610065]
xref: MEDGEN:355279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610065 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:610065"}
xref: UMLS:C1864732 {source="MONDO:equivalentTo", source="MEDGEN:355279", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0012404
name: systemic lupus erythematosus, susceptibility to, 8
subset: predisposition
synonym: "SLEB8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610066]
synonym: "systemic lupus erythematosus, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:610066]
xref: MEDGEN:355278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610066 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:610066"}
xref: UMLS:C1864731 {source="MEDGEN:355278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0012405
name: polyposis syndrome, hereditary mixed, 2
def: "Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18276", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BMPR1A hereditary mixed polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary mixed polyposis syndrome caused by mutation in BMPR1A" EXACT [MONDO:design_pattern]
synonym: "HMPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610069]
synonym: "polyposis syndrome, hereditary mixed, 2" EXACT [MONDO:Lexical, OMIM:610069]
synonym: "polyposis syndrome, hereditary mixed, type 2" EXACT [MONDORULE:1, OMIM:610069]
xref: DOID:0111686 {source="MONDO:equivalentTo"}
xref: GARD:18276 {source="MONDO:GARD"}
xref: MEDGEN:350500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566451 {source="MONDO:equivalentTo"}
xref: OMIM:610069 {source="MONDO:equivalentTo"}
xref: Orphanet:157794 {source="OMIM:610069"}
xref: UMLS:C1864730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350500"}
is_a: MONDO:0011023 {source="MONDO:Redundant", source="Orphanet:157794/btnt"} ! hereditary mixed polyposis syndrome
intersection_of: MONDO:0011023 ! hereditary mixed polyposis syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1076 ! BMPR1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1076 {source="MONDO:mim2gene_medgen"} ! BMPR1A

[Term]
id: MONDO:0012406
name: hyperparathyroidism 3
subset: gard_rare {source="GARD:18255", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HRPT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610071]
synonym: "hyperparathyroidism 3" EXACT [MONDO:Lexical, OMIM:610071]
synonym: "hyperparathyroidism, familial isolated" RELATED [OMIM:610071]
xref: GARD:18255 {source="MONDO:GARD"}
xref: MEDGEN:355277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566450 {source="MONDO:equivalentTo"}
xref: OMIM:610071 {source="MONDO:equivalentTo"}
xref: Orphanet:99879 {source="OMIM:610071"}
xref: UMLS:C1864729 {source="MEDGEN:355277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001741 {source="MESH:C566450/inferred", source="MONDO:Redundant", source="OMIM:610071"} ! hyperparathyroidism
is_a: MONDO:0015027 {source="Orphanet:99879/btnt"} ! familial isolated hyperparathyroidism
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012407
name: pyridoxal phosphate-responsive seizures
def: "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." [Orphanet:79096]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10730", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:79096"}
subset: orphanet_rare {source="Orphanet:79096"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epileptic encephalopathy, neonatal, Pnpo-related" RELATED [OMIM:610090]
synonym: "PNPO deficiency" EXACT [Orphanet:79096]
synonym: "Pnpo deficiency" RELATED [OMIM:610090]
synonym: "PNPO-related neonatal epileptic encephalopathy" EXACT [Orphanet:79096]
synonym: "PNPOD" RELATED ABBREVIATION [OMIM:610090]
synonym: "pyridoxal 5'-phosphate-dependent epilepsy" RELATED [GARD:0010730]
synonym: "pyridoxal phosphate-dependent seizures" EXACT [Orphanet:79096]
synonym: "pyridoxamine 5'-oxidase deficiency" EXACT [Orphanet:79096]
synonym: "pyridoxamine 5'-phosphate oxidase deficiency" EXACT [Orphanet:79096]
synonym: "pyridoxamine 5-prime-phosphate oxidase deficiency" RELATED [OMIM:610090]
synonym: "pyridoxine 5' phosphate oxidase deficiency" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html]
synonym: "pyridoxine-5'-phosphate oxidase deficiency" RELATED [GARD:0010730]
synonym: "seizures, pyridoxine-resistant, PLP-sensitive" RELATED [OMIM:610090]
xref: DOID:0111329 {source="MONDO:equivalentTo"}
xref: GARD:10730 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:79096", source="Orphanet:79096/attributed", source="Orphanet:79096/ntbt"}
xref: icd11.foundation:1632334328 {source="MONDO:equivalentTo", source="Orphanet:79096", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:350498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566449 {source="MONDO:equivalentTo"}
xref: OMIM:610090 {source="MONDO:equivalentTo", source="Orphanet:79096", source="Orphanet:79096/e"}
xref: Orphanet:79096 {source="MONDO:equivalentTo", source="OMIM:610090"}
xref: SCTID:724576005 {source="MONDO:equivalentTo"}
xref: UMLS:C1864723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350498"}
is_a: MONDO:0019237 {source="Orphanet:79096"} ! inborn disorder of pyridoxine metabolism
is_a: MONDO:0100033 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
intersection_of: MONDO:0100033 ! metabolic epilepsy
intersection_of: disease_responds_to CHEBI:18405 ! pyridoxal 5'-phosphate
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30260 {source="MONDO:mim2gene_medgen"} ! PNPO
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#pyridoxine" xsd:anyURI

[Term]
id: MONDO:0012408
name: microphthalmia, isolated, with coloboma 3
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15471", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPCB3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610092]
synonym: "microphthalmia with coloboma 3" EXACT [OMIM:610092, OMIM:genemap2]
synonym: "microphthalmia, cataracts, and iris abnormalities" RELATED [OMIM:610092]
synonym: "microphthalmia, colobomatous, isolated 3" RELATED [OMIM:610092]
synonym: "microphthalmia, isolated, with coloboma 3" EXACT [MONDO:Lexical, OMIM:610092]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in VSX2" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 3" EXACT [MONDORULE:1, OMIM:610092]
synonym: "VSX2 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15471 {source="MONDO:GARD"}
xref: MEDGEN:400598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566447 {source="MONDO:equivalentTo"}
xref: OMIM:610092 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:610092"}
xref: UMLS:C1864721 {source="MEDGEN:400598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:610092", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma
intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 ! VSX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 {source="MONDO:mim2gene_medgen"} ! VSX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012409
name: isolated microphthalmia 2
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anophthalmia, clinical, isolated" RELATED [OMIM:610093]
synonym: "isolated microphthalmia caused by mutation in VSX2" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 2" EXACT [DOID:0060839, MONDORULE:1]
synonym: "MCOP2" EXACT ABBREVIATION [DOID:0060839, MONDO:Lexical, OMIM:610093]
synonym: "microphthalmia, isolated 2" RELATED [MONDO:Lexical, OMIM:610093]
synonym: "microphthalmia, isolated type 2" EXACT [MONDORULE:1, OMIM:610093]
synonym: "VSX2 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060839 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q11.0 {source="DOID:0060839"}
xref: MEDGEN:351204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566446 {source="MONDO:equivalentTo"}
xref: OMIM:610093 {source="MONDO:equivalentTo", source="DOID:0060839"}
xref: Orphanet:2542 {source="OMIM:610093", source="DOID:0060839"}
xref: UMLS:C1864720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351204"}
is_a: MONDO:0000062 {source="DC-OMIM:610093", source="MONDO:Redundant", source="OMIM:610093"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 ! VSX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 {source="MONDO:mim2gene_medgen"} ! VSX2

[Term]
id: MONDO:0012410
name: Finnish upper limb-onset distal myopathy
def: "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common." [Orphanet:399086]
subset: gard_rare {source="GARD:17652", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:399086"}
subset: orphanet_rare {source="Orphanet:399086"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal myopathy type 3" EXACT [Orphanet:399086]
synonym: "MPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610099, Orphanet:399086]
synonym: "myopathy, distal, 3" RELATED [MONDO:Lexical, OMIM:610099]
xref: DOID:0111189 {source="MONDO:equivalentTo"}
xref: GARD:17652 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:399086/attributed", source="Orphanet:399086/ntbt", source="Orphanet:399086"}
xref: MEDGEN:400595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610099 {source="Orphanet:399086/e", source="MONDO:equivalentTo", source="Orphanet:399086"}
xref: Orphanet:399086 {source="OMIM:610099", source="MONDO:equivalentTo"}
xref: SCTID:763718009 {source="MONDO:equivalentTo"}
xref: UMLS:C1864706 {source="MEDGEN:400595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016108 {source="Orphanet:399086"} ! autosomal dominant distal myopathy
is_a: MONDO:0018949 {source="DC-OMIM:610099", source="MONDO:Redundant", source="Orphanet:399086/inferred"} ! distal myopathy

[Term]
id: MONDO:0012411
name: giant axonal neuropathy 2
def: "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401964"}
subset: orphanet_rare {source="Orphanet:401964"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" RELATED [Orphanet:401964]
synonym: "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" EXACT [Orphanet:401964]
synonym: "CMT2 with giant axons" EXACT [Orphanet:401964]
synonym: "DCAF8 giant axonal neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GAN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610100]
synonym: "giant axonal neuropathy 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610100]
synonym: "giant axonal neuropathy caused by mutation in DCAF8" EXACT [MONDO:design_pattern]
synonym: "giant axonal neuropathy type 2" EXACT [DOID:0090069, MONDORULE:1]
synonym: "HMSN2 with giant axons" EXACT [Orphanet:401964]
xref: DOID:0090069 {source="MONDO:equivalentTo"}
xref: GARD:12447 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:401964/attributed", source="Orphanet:401964/ntbt", source="Orphanet:401964"}
xref: MEDGEN:400593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610100 {source="Orphanet:401964", source="DOID:0090069", source="MONDO:equivalentTo", source="Orphanet:401964/e"}
xref: Orphanet:401964 {source="OMIM:610100", source="MONDO:equivalentTo"}
xref: UMLS:C1864695 {source="MEDGEN:400593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000128 {source="DC-OMIM:610100", source="MONDO:Redundant", source="OMIM:610100"} ! giant axonal neuropathy
is_a: MONDO:0018993 {source="Orphanet:401964"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0000128 ! giant axonal neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24891 ! DCAF8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24891 {source="MONDO:mim2gene_medgen"} ! DCAF8

[Term]
id: MONDO:0012412
name: complement component 7 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18290", source="MONDO:GARD"}
subset: rare
synonym: "C7 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C7 deficiency" RELATED [OMIM:610102]
synonym: "C7D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610102]
synonym: "classic complement early component deficiency caused by mutation in C7" EXACT [MONDO:design_pattern]
synonym: "complement component 7 deficiency" EXACT [MONDO:Lexical, OMIM:610102]
xref: DOID:0060300 {source="MONDO:equivalentTo"}
xref: GARD:18290 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="DOID:0060300"}
xref: MEDGEN:355270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566443 {source="MONDO:equivalentTo"}
xref: NANDO:2200785 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:610102 {source="DOID:0060300", source="MONDO:equivalentTo"}
xref: Orphanet:169150 {source="OMIM:610102"}
xref: Orphanet:1695150 {source="DOID:0060300"}
xref: UMLS:C1864694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355270"}
is_a: MONDO:0000015 {source="DC-OMIM:610102", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
intersection_of: MONDO:0000015 ! classic complement early component deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1346 ! C7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1346 {source="MONDO:mim2gene_medgen"} ! C7

[Term]
id: MONDO:0012413
name: syndromic microphthalmia type 5
def: "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." [Orphanet:178364]
subset: gard_rare {source="GARD:3692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178364"}
subset: ordo_malformation_syndrome {source="Orphanet:178364"}
subset: orphanet_rare {source="Orphanet:178364"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCOPS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610125, Orphanet:178364]
synonym: "microphthalmia syndromic 5" RELATED [GARD:0003692]
synonym: "microphthalmia, syndromic 5" RELATED [MONDO:Lexical, OMIM:610125]
synonym: "microphthalmia, syndromic type 5" EXACT [MONDORULE:1, OMIM:610125]
synonym: "OTX2 syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OTX2-related eye disorders" RELATED [GARD:0003692]
synonym: "retinal dystrophy, early-onset, with or without pituitary dysfunction" RELATED [OMIM:610125]
synonym: "syndromic microphthalmia caused by mutation in OTX2" EXACT [MONDO:design_pattern]
synonym: "syndromic microphthalmia type 5" EXACT CLINGEN_LABEL []
synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [Orphanet:178364]
xref: DOID:0111806 {source="MONDO:equivalentTo"}
xref: GARD:3692 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:178364", source="Orphanet:178364/attributed", source="Orphanet:178364/ntbt"}
xref: MEDGEN:350491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566441 {source="MONDO:equivalentTo"}
xref: OMIM:610125 {source="Orphanet:178364", source="MONDO:equivalentTo", source="Orphanet:178364/e"}
xref: Orphanet:178364 {source="MONDO:equivalentTo", source="OMIM:610125"}
xref: SCTID:718761007 {source="MONDO:equivalentTo"}
xref: UMLS:C1864690 {source="MEDGEN:350491", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016073 {source="DC-OMIM:610125", source="MONDO:Redundant", source="OMIM:610125", source="Orphanet:178364"} ! syndromic microphthalmia
intersection_of: MONDO:0016073 ! syndromic microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 ! OTX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 {source="MONDO:mim2gene_medgen"} ! OTX2

[Term]
id: MONDO:0012414
name: neuronal ceroid lipofuscinosis 10
def: "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10]
subset: gard_rare {source="GARD:1218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228337"}
subset: ordo_etiological_subtype {source="Orphanet:228337"}
subset: orphanet_rare {source="Orphanet:228337"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cathepsin D deficiency" EXACT [DOID:0110725, Orphanet:228337]
synonym: "ceroid lipofuscinosis neuronal Cathepsin D-deficient" RELATED [GARD:0001218]
synonym: "ceroid lipofuscinosis, neuronal, 10" RELATED [MONDO:Lexical, OMIM:610127]
synonym: "ceroid lipofuscinosis, neuronal, Cathepsin D-deficient" RELATED [OMIM:610127]
synonym: "ceroid lipofuscinosis, neuronal, type 10" EXACT [MONDORULE:2, OMIM:610127]
synonym: "CLN10" EXACT ABBREVIATION [DOID:0110725, MONDO:Lexical, OMIM:610127]
synonym: "CLN10 disease" RELATED [Orphanet:228337]
synonym: "CLN10 disease, adult (subtype)" RELATED [GARD:0001218]
synonym: "CLN10 disease, congenital (subtype)" RELATED [GARD:0001218]
synonym: "CLN10 disease, juvenile (subtype)" RELATED [GARD:0001218]
synonym: "CLN10 disease, late infantile (subtype)" RELATED [GARD:0001218]
synonym: "CLN10-NCL" EXACT ABBREVIATION [GARD:0001218]
synonym: "CTSD neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronal ceroid lipofuscinosis cathepsin D-deficient" EXACT [DOID:0110725]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSD" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis due to Cathepsin D deficiency" RELATED [OMIM:610127]
synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [DOID:0110725]
synonym: "neuronal ceroid lipofuscinosis type 10" EXACT [DOID:0110725, MONDORULE:2]
synonym: "neuronal ceroid lipofuscinosis, congenital" RELATED [OMIM:610127]
xref: DOID:0110725 {source="MONDO:equivalentTo"}
xref: GARD:1218 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:228337", source="DOID:0110725", source="Orphanet:228337/attributed", source="Orphanet:228337/ntbt"}
xref: MEDGEN:350481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566438 {source="MONDO:equivalentTo"}
xref: OMIM:610127 {source="Orphanet:228337", source="DOID:0110725", source="MONDO:equivalentTo", source="Orphanet:228337/e"}
xref: Orphanet:168486 {source="OMIM:610127"}
xref: Orphanet:168491 {source="OMIM:610127"}
xref: Orphanet:228337 {source="DOID:0110725", source="MONDO:equivalentTo", source="OMIM:610127"}
xref: Orphanet:79262 {source="OMIM:610127"}
xref: Orphanet:79264 {source="OMIM:610127"}
xref: SCTID:720831008 {source="MONDO:equivalentTo"}
xref: UMLS:C1864669 {source="MEDGEN:350481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228337"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0016295 {source="DOID:0110725", source="MONDO:Redundant", source="OMIM:610127", source="Orphanet:228337/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019260 {source="Orphanet:228337", source="Orphanet:79262/btnt"} ! adult neuronal ceroid lipofuscinosis
is_a: MONDO:0019262 {source="Orphanet:228337", source="Orphanet:79264/btnt"} ! juvenile neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2529 ! CTSD
relationship: excluded_subClassOf MONDO:0009744 {source="Orphanet:168486/btnt", source="Orphanet:228337", source="https://orcid.org/0000-0001-5208-3432"} ! neuronal ceroid lipofuscinosis 1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2529 {source="MONDO:mim2gene_medgen"} ! CTSD
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10" xsd:anyURI {source="GARD:0001218"}

[Term]
id: MONDO:0012415
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16500", source="MONDO:GARD"}
subset: rare
synonym: "PEOA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610131]
synonym: "POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" EXACT [MONDO:Lexical, OMIM:610131]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:610131]
synonym: "progressive external ophthalmoplegia, autosomal dominant 4" RELATED [OMIM:610131]
xref: DOID:0111525 {source="MONDO:equivalentTo"}
xref: GARD:16500 {source="MONDO:GARD"}
xref: MEDGEN:350480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566437 {source="MONDO:equivalentTo"}
xref: OMIM:610131 {source="MONDO:equivalentTo"}
xref: Orphanet:254892 {source="OMIM:610131"}
xref: UMLS:C1864668 {source="MEDGEN:350480", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000090 {source="MONDO:0012415/inferred", source="MONDO:Redundant", source="OMIM:610131"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia
intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9180 ! POLG2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9180 {source="MONDO:mim2gene_medgen"} ! POLG2

[Term]
id: MONDO:0012416
name: Devriendt syndrome
synonym: "Devriendt syndrome" EXACT [OMIM:610136]
synonym: "severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism" RELATED [GARD:0010052]
synonym: "severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism" RELATED DEPRECATED [GARD:0010052]
xref: MEDGEN:341860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535947 {source="MONDO:equivalentTo"}
xref: OMIM:610136 {source="MONDO:equivalentTo"}
xref: UMLS:C1857830 {source="MEDGEN:341860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome" xsd:anyURI {source="GARD:0010052"}

[Term]
id: MONDO:0012417
name: heart-hand syndrome, Slovenian type
def: "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." [Orphanet:168796]
subset: gard_rare {source="GARD:9846", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168796"}
subset: ordo_malformation_syndrome {source="Orphanet:168796"}
subset: orphanet_rare {source="Orphanet:168796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atriodigital dysplasia, Slovenian type" EXACT [Orphanet:168796]
synonym: "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" EXACT [Orphanet:168796]
synonym: "heart-hand syndrome, Slovenian type" EXACT [OMIM:610140]
xref: GARD:9846 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:168796", source="Orphanet:168796/attributed", source="Orphanet:168796/ntbt"}
xref: MEDGEN:341859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535852 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"}
xref: OMIM:610140 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"}
xref: Orphanet:168796 {source="MONDO:equivalentTo", source="OMIM:610140"}
xref: SCTID:721014007 {source="MONDO:equivalentTo"}
xref: UMLS:C1857829 {source="MEDGEN:341859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016432 {source="https://orcid.org/0000-0002-6601-2165"} ! heart-hand syndrome
relationship: disease_has_feature HP:0001644 {source="Orphanet:168796"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:168796", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610140", source="Orphanet:168796"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type" xsd:anyURI {source="GARD:0009846"}

[Term]
id: MONDO:0012418
name: autosomal recessive nonsyndromic hearing loss 62
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23." [DOID:0110514, PMID:16650082]
subset: gard_rare {source="GARD:22618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 62" NARROW [DOID:0110514]
synonym: "autosomal recessive nonsyndromic deafness 62" NARROW [OMIM:610143]
synonym: "autosomal recessive nonsyndromic deafness type 62" NARROW [DOID:0110514, MONDORULE:2]
synonym: "deafness, autosomal recessive 62" NARROW [MONDO:Lexical, OMIM:610143, OMIM:genemap2]
synonym: "DFNB62" NARROW ABBREVIATION [DOID:0110514, MONDO:Lexical, OMIM:610143]
xref: DOID:0110514 {source="MONDO:equivalentTo"}
xref: GARD:22618 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110514"}
xref: MEDGEN:387916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565719 {source="MONDO:equivalentTo"}
xref: OMIM:610143 {source="DOID:0110514", source="MONDO:equivalentTo"}
xref: UMLS:C1857820 {source="MEDGEN:387916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:610143", source="DOID:0110514", source="OMIM:610143"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012419
name: age related macular degeneration 7
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 7" EXACT [DOID:0110019, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in HTRA1" EXACT [MONDO:design_pattern]
synonym: "ARMD7" EXACT ABBREVIATION [DOID:0110019, MONDO:Lexical, OMIM:610149]
synonym: "HTRA1 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 7" RELATED [MONDO:Lexical, OMIM:610149]
synonym: "macular degeneration, age-related, neovascular type" EXACT [OMIM:610149, OMIM:genemap2]
synonym: "macular Degeneration, age-related, neovascular type, susceptibility to" RELATED [OMIM:610149]
synonym: "macular Degeneration, age-related, type 7" EXACT [MONDORULE:1, OMIM:610149]
synonym: "macular Degeneration, age-related, wet type, susceptibility to" RELATED [OMIM:610149]
xref: DOID:0110019 {source="MONDO:equivalentTo"}
xref: MEDGEN:347554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565718 {source="MONDO:equivalentTo"}
xref: OMIM:610149 {source="DOID:0110019", source="MONDO:equivalentTo"}
xref: UMLS:C1857813 {source="MEDGEN:347554", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:610149", source="DOID:0110019", source="MONDO:Redundant", source="OMIM:610149"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 ! HTRA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 {source="MONDO:mim2gene_medgen"} ! HTRA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012420
name: autosomal recessive nonsyndromic hearing loss 49
def: "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." [NCIT:C129024]
subset: gard_rare {source="GARD:22619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 49" NARROW [DOID:0110506]
synonym: "autosomal recessive nonsyndromic deafness 49" NARROW [OMIM:610153]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 49" NARROW [DOID:0110506, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 49" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 49" NARROW [MONDO:Lexical, OMIM:610153, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 49" NARROW [MONDORULE:2, OMIM:610153]
synonym: "DFNB49" NARROW ABBREVIATION [DOID:0110506, MONDO:Lexical, OMIM:610153]
synonym: "MARVELD2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110506 {source="MONDO:equivalentTo"}
xref: GARD:22619 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110506"}
xref: MEDGEN:346670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565717 {source="MONDO:equivalentTo"}
xref: NCIT:C129024 {source="MONDO:equivalentTo"}
xref: OMIM:610153 {source="MONDO:equivalentTo", source="DOID:0110506"}
xref: UMLS:C1857811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346670"}
is_a: MONDO:0019588 {source="DC-OMIM:610153", source="DOID:0110506", source="MONDO:Redundant", source="OMIM:610153"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26401 ! MARVELD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26401 {source="MONDO:mim2gene_medgen"} ! MARVELD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012421
name: autosomal recessive nonsyndromic hearing loss 44
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADCY1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive deafness 44" NARROW [DOID:0110501]
synonym: "autosomal recessive nonsyndromic deafness 44" NARROW [OMIM:610154]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ADCY1" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 44" NARROW [DOID:0110501, MONDORULE:2]
synonym: "deafness, autosomal recessive 44" NARROW [MONDO:Lexical, OMIM:610154, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 44" NARROW [MONDORULE:2, OMIM:610154]
synonym: "DFNB44" NARROW ABBREVIATION [DOID:0110501, MONDO:Lexical, OMIM:610154]
xref: DOID:0110501 {source="MONDO:equivalentTo"}
xref: GARD:22620 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110501"}
xref: MEDGEN:341854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565716 {source="MONDO:equivalentTo"}
xref: OMIM:610154 {source="DOID:0110501", source="MONDO:equivalentTo"}
xref: UMLS:C1857809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341854"}
is_a: MONDO:0019588 {source="DC-OMIM:610154", source="DOID:0110501", source="MONDO:Redundant", source="OMIM:610154"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/232 ! ADCY1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/232 {source="MONDO:mim2gene_medgen"} ! ADCY1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012422
name: type 1 diabetes mellitus 19
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3." [DOID:0110756, MONDO:patterns/inherited_susceptibility, PMID:16699517]
synonym: "diabetes mellitus, insulin-dependent, 19" RELATED [MONDO:Lexical, OMIM:610155]
synonym: "IDDM19" EXACT ABBREVIATION [DOID:0110756, MONDO:Lexical, OMIM:610155]
synonym: "insulin-dependent diabetes mellitus 19" EXACT [DOID:0110756]
xref: DOID:0110756 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110756"}
xref: MEDGEN:346669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565715 {source="MONDO:equivalentTo"}
xref: OMIM:610155 {source="DOID:0110756", source="MONDO:equivalentTo"}
xref: UMLS:C1857808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346669"}
is_a: MONDO:0020573 {source="OMIM:610155"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:610155", source="DOID:0110756", source="MESH:C565715", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:610155"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0012423
name: MORM syndrome
def: "MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34." [Orphanet:75858]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75858"}
subset: orphanet_rare {source="Orphanet:75858"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, truncal obesity, retinal dystrophy and micropenis" RELATED [GARD:0010121]
synonym: "intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED [MONDO:Lexical, OMIM:610156]
synonym: "intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT [Orphanet:75858]
synonym: "mental retardation, truncal obesity, retinal dystrophy and micropenis" RELATED DEPRECATED [GARD:0010121]
synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis" EXACT [OMIM:610156, OMIM:genemap2]
synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156]
synonym: "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT DEPRECATED [Orphanet:75858]
synonym: "MORM syndrome" EXACT [OMIM:610156]
synonym: "MORMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156]
xref: GARD:10121 {source="MONDO:GARD"}
xref: MEDGEN:341851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536984 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"}
xref: OMIM:610156 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"}
xref: Orphanet:75858 {source="OMIM:610156", source="MONDO:equivalentTo"}
xref: SCTID:715628009 {source="MONDO:equivalentTo"}
xref: UMLS:C1857802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341851"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019118 {source="Orphanet:75858", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21474 {source="MONDO:mim2gene_medgen"} ! INPP5E
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome" xsd:anyURI {source="GARD:0010121"}

[Term]
id: MONDO:0012424
name: obsolete heat-shock RNA 1
comment: This is a gene, not a disease.
synonym: "heat-shock RNA 1" EXACT [OMIM:610157]
synonym: "heat-shock RNA type 1" EXACT [MONDORULE:1, OMIM:610157]
synonym: "Hsr1" RELATED [OMIM:610157]
xref: OMIM:610157 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0012425
name: corneal dystrophy, fuchs endothelial, 2
subset: gard_rare {source="GARD:18217", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corneal dystrophy, Fuchs endothelial, 2" RELATED [MONDO:Lexical, OMIM:610158]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:610158]
synonym: "Fcd1 locus" RELATED [OMIM:610158]
synonym: "FECD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610158]
xref: GARD:18217 {source="MONDO:GARD"}
xref: MEDGEN:347552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535479 {source="MONDO:equivalentTo"}
xref: OMIM:610158 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="OMIM:610158"}
xref: UMLS:C1857800 {source="MEDGEN:347552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005321 {source="DC-OMIM:610158", source="OMIM:610158"} ! Fuchs' endothelial dystrophy

[Term]
id: MONDO:0012426
name: immunodeficiency 25
def: "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18294", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD247 severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CD3zeta deficiency" EXACT [MONDO:0000571]
synonym: "IMD25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610163]
synonym: "immunodeficiency 25" EXACT [MONDO:Lexical, OMIM:610163]
synonym: "immunodeficiency due to defect in CD3-zeta" RELATED [OMIM:610163]
synonym: "immunodeficiency type 25" EXACT [MONDORULE:2, OMIM:610163]
synonym: "severe combined immunodeficiency (disease) caused by mutation in CD247" EXACT []
xref: DOID:0060007 {source="MONDO:equivalentTo"}
xref: DOID:0111942 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:18294 {source="MONDO:GARD"}
xref: MEDGEN:346666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565712 {source="MONDO:equivalentTo"}
xref: OMIM:610163 {source="MONDO:equivalentTo"}
xref: Orphanet:169160 {source="OMIM:610163"}
xref: UMLS:C1857798 {source="MONDO:equivalentTo", source="MEDGEN:346666", source="MONDO:MEDGEN"}
is_a: MONDO:0015703 {source="Orphanet:169160/btnt"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
is_a: MONDO:0015974 {source="DOID:0060007", source="MONDO:Redundant", source="MONDO:indirect"} ! severe combined immunodeficiency
is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency
intersection_of: MONDO:0015974 ! severe combined immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1677 ! CD247
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1677 {source="MONDO:mim2gene_medgen"} ! CD247

[Term]
id: MONDO:0012427
name: Loeys-Dietz syndrome 2
def: "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2." [NCIT:C114768]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aortic aneurysm, familial thoracic 3" RELATED [OMIM:610168]
synonym: "LDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610168]
synonym: "Loeys-Dietz syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610168]
synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR2" EXACT [MONDO:design_pattern]
synonym: "Loeys-Dietz syndrome type 2" EXACT [MONDORULE:1, OMIM:610168]
synonym: "Loeys-Dietz syndrome type II" EXACT [NCIT:C114768]
synonym: "Marfan syndrome, type II" RELATED [OMIM:610168]
synonym: "Marfan syndrome, type II, formerly" RELATED [OMIM:610168]
synonym: "TGFBR2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070234 {source="MONDO:equivalentTo"}
xref: GARD:10586 {source="MONDO:GARD"}
xref: MEDGEN:382398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537783 {source="MONDO:equivalentTo"}
xref: NCIT:C114768 {source="MONDO:equivalentTo"}
xref: OMIM:610168 {source="MONDO:equivalentTo"}
xref: Orphanet:284973 {source="OMIM:610168"}
xref: Orphanet:558 {source="MONDO:relatedTo", source="OMIM:610168"}
xref: Orphanet:60030 {source="OMIM:610168"}
xref: Orphanet:91387 {source="MONDO:relatedTo", source="OMIM:610168"}
xref: UMLS:C2674574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382398"}
is_a: MONDO:0018954 {source="DC-OMIM:610168", source="MESH:C537783", source="MONDO:Redundant", source="NCIT:C114768", source="OMIM:610168", source="OMIM:610168/inferred"} ! Loeys-Dietz syndrome
intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 ! TGFBR2
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610168"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 {source="MONDO:mim2gene_medgen"} ! TGFBR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012428
name: kyphoscoliosis 1
synonym: "kyphoscoliosis 1" EXACT [MONDO:Lexical, OMIM:610170]
synonym: "KYPSC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610170]
xref: MEDGEN:347550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565711 {source="MONDO:equivalentTo"}
xref: OMIM:610170 {source="MONDO:equivalentTo"}
xref: UMLS:C1857795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347550"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012429
name: Aicardi-Goutieres syndrome 2
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15472", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610181]
synonym: "Aicardi-Goutieres syndrome 2" EXACT [MONDO:Lexical, OMIM:610181]
synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 2" EXACT [MONDORULE:1, OMIM:610181]
synonym: "RNASEH2B Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RNASEH2B-related Aicardi-Goutieres syndrome" RELATED [GARD:0010894]
xref: GARD:15472 {source="MONDO:GARD"}
xref: MEDGEN:483677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200894 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C165673 {source="MONDO:equivalentTo"}
xref: OMIM:610181 {source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="OMIM:610181"}
xref: UMLS:C3489724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483677"}
is_a: MONDO:0018866 {source="DC-OMIM:610181", source="MONDO:Redundant", source="OMIM:610181"} ! Aicardi-Goutieres syndrome
is_a: MONDO:0700257 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! RNASEH2B-related type 1 interferonopathy
intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25671 ! RNASEH2B
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610181"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25671 {source="MONDO:mim2gene_medgen"} ! RNASEH2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0012430
name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15473", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAMRQ2" RELATED DEPRECATED [MONDO:Lexical, OMIM:610185]
synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2" RELATED [OMIM:610185]
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" RELATED DEPRECATED [OMIM:610185]
synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2" EXACT [MONDO:Lexical, OMIM:610185]
synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2" EXACT [MONDORULE:1, OMIM:610185]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:610185]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:610185]
synonym: "dysequilibrium syndrome caused by mutation in WDR81" EXACT [MONDO:design_pattern]
synonym: "WDR81 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15473 {source="MONDO:GARD"}
xref: MEDGEN:412914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567656 {source="MONDO:equivalentTo"}
xref: OMIM:610185 {source="MONDO:equivalentTo"}
xref: Orphanet:1766 {source="OMIM:610185"}
xref: UMLS:C2750234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412914"}
is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:610185", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium
intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26600 ! WDR81
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26600 {source="MONDO:mim2gene_medgen"} ! WDR81

[Term]
id: MONDO:0012431
name: diaphragmatic hernia 3
def: "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15474", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital diaphragmatic hernia caused by mutation in ZFPM2" EXACT [MONDO:design_pattern]
synonym: "diaphragmatic hernia 3" EXACT [MONDO:Lexical, OMIM:610187]
synonym: "diaphragmatic hernia type 3" EXACT [MONDORULE:1, OMIM:610187]
synonym: "DIH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610187]
synonym: "ZFPM2 congenital diaphragmatic hernia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15474 {source="MONDO:GARD"}
xref: MEDGEN:347546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565710 {source="MONDO:equivalentTo"}
xref: OMIM:610187 {source="MONDO:equivalentTo"}
xref: Orphanet:2140 {source="OMIM:610187"}
xref: UMLS:C1857781 {source="MONDO:equivalentTo", source="MEDGEN:347546", source="MONDO:MEDGEN"}
is_a: MONDO:0005711 {source="DC-OMIM:610187", source="MONDO:Redundant", source="OMIM:610187"} ! congenital diaphragmatic hernia
intersection_of: MONDO:0005711 ! congenital diaphragmatic hernia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16700 ! ZFPM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16700 {source="MONDO:mim2gene_medgen"} ! ZFPM2

[Term]
id: MONDO:0012432
name: Joubert syndrome 5
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP290 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS5" EXACT ABBREVIATION [DOID:0111000, MONDO:Lexical, OMIM:610188]
synonym: "Joubert syndrome 5" EXACT [MONDO:Lexical, OMIM:610188]
synonym: "Joubert syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 5" EXACT [DOID:0111000, MONDORULE:1, OMIM:610188]
xref: DOID:0111000 {source="MONDO:equivalentTo"}
xref: GARD:15475 {source="MONDO:GARD"}
xref: MEDGEN:347545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537688 {source="MONDO:equivalentTo"}
xref: OMIM:610188 {source="MONDO:equivalentTo", source="DOID:0111000"}
xref: Orphanet:2318 {source="OMIM:610188"}
xref: UMLS:C1857780 {source="MEDGEN:347545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0018772 {source="DC-OMIM:610188", source="DOID:0111000", source="MONDO:Redundant", source="OMIM:610188"} ! Joubert syndrome
is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290-related ciliopathy
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="MONDO:mim2gene_medgen"} ! CEP290

[Term]
id: MONDO:0012433
name: Senior-Loken syndrome 6
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP290 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SENIOR-Loken syndrome 6" RELATED [OMIM:610189]
synonym: "Senior-Loken syndrome 6" EXACT [MONDO:Lexical, OMIM:610189]
synonym: "Senior-Loken syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 6" EXACT [MONDORULE:1, OMIM:610189]
synonym: "SLSN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610189]
xref: GARD:15476 {source="MONDO:GARD"}
xref: MEDGEN:387907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565708 {source="MONDO:equivalentTo"}
xref: OMIM:610189 {source="MONDO:equivalentTo"}
xref: Orphanet:3156 {source="OMIM:610189"}
xref: UMLS:C1857779 {source="MEDGEN:387907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017842 {source="DC-OMIM:610189", source="MONDO:Redundant", source="OMIM:610189"} ! Senior-Loken syndrome
is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290-related ciliopathy
intersection_of: MONDO:0017842 ! Senior-Loken syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610189"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="MONDO:mim2gene_medgen"} ! CEP290

[Term]
id: MONDO:0012434
name: arrhythmogenic right ventricular dysplasia 10
def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 10" EXACT [DOID:0110081, OMIM:610193]
synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern]
synonym: "arrhythmogenic right ventricular dysplasia 10" EXACT CLINGEN_LABEL []
synonym: "arrhythmogenic right ventricular dysplasia type 10" EXACT [DOID:0110081, MONDORULE:2]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 10" RELATED [MONDO:Lexical, OMIM:610193]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 10" EXACT [MONDORULE:2, OMIM:610193]
synonym: "ARVC10" EXACT ABBREVIATION [DOID:0110081]
synonym: "ARVD10" EXACT ABBREVIATION [DOID:0110081, MONDO:Lexical, OMIM:610193]
synonym: "DSG2 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial arrhythmogenic right ventricular dysplasia 10" EXACT [DOID:0110081]
xref: DOID:0110081 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110081"}
xref: MEDGEN:347543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565707 {source="MONDO:equivalentTo"}
xref: OMIM:610193 {source="DOID:0110081", source="MONDO:equivalentTo"}
xref: Orphanet:217656 {source="OMIM:610193"}
xref: UMLS:C1857777 {source="MEDGEN:347543", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016342 {source="DOID:0110081", source="MESH:C565707", source="MONDO:Redundant", source="OMIM:610193"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3049 ! DSG2
relationship: excluded_subClassOf MONDO:0017401 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, left dominant form
relationship: excluded_subClassOf MONDO:0017402 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, biventricular form
relationship: excluded_subClassOf MONDO:0017403 {source="https://orcid.org/0000-0001-5208-3432"} ! familial isolated arrhythmogenic ventricular dysplasia, right dominant form
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3049 {source="MONDO:mim2gene_medgen"} ! DSG2

[Term]
id: MONDO:0012435
name: 3-methylglutaconic aciduria type 5
def: "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." [Orphanet:66634]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66634"}
subset: orphanet_rare {source="Orphanet:66634"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3 alpha methylglutaconic aciduria type V" RELATED [GARD:0010344]
synonym: "3 methylglutaconic aciduria type V" RELATED [GARD:0010344]
synonym: "3-methylglutaconic aciduria caused by mutation in DNAJC19" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type 5" EXACT CLINGEN_LABEL [Orphanet:66634]
synonym: "3-methylglutaconic aciduria type V" EXACT [DOID:0110000]
synonym: "3-Methylglutaconic aciduria, type 5" RELATED [OMIM:610198]
synonym: "3-METHYLGLUTACONIC aciduria, type V" RELATED [MONDO:Lexical, OMIM:610198]
synonym: "cardiomyopathy, dilated, with ataxia" RELATED [OMIM:610198]
synonym: "DCMA" EXACT ABBREVIATION [DOID:0110000]
synonym: "DCMA syndrome" EXACT [DOID:0110000, Orphanet:66634]
synonym: "dilated cardiomyopathy with ataxia" EXACT [DOID:0110000]
synonym: "DNAJC19 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MGA 5" RELATED [GARD:0010344]
synonym: "MGA V" RELATED [GARD:0010344]
synonym: "Mga, type 5" RELATED [OMIM:610198]
synonym: "MGA5" EXACT ABBREVIATION [DOID:0110000, Orphanet:66634]
synonym: "MGCA5" EXACT ABBREVIATION [DOID:0110000, MONDO:Lexical, OMIM:610198]
xref: DOID:0110000 {source="MONDO:equivalentTo"}
xref: GARD:12964 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:66634", source="Orphanet:66634/attributed", source="Orphanet:66634/ntbt", source="DOID:0110000"}
xref: MEDGEN:347542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565706 {source="MONDO:equivalentTo"}
xref: NCIT:C173146 {source="MONDO:equivalentTo"}
xref: OMIM:610198 {source="Orphanet:66634", source="GARD:0010344", source="MONDO:equivalentTo", source="Orphanet:66634/e", source="DOID:0110000"}
xref: Orphanet:66634 {source="OMIM:610198", source="MONDO:equivalentTo", source="DOID:0110000"}
xref: SCTID:711412004 {source="MONDO:equivalentTo"}
xref: UMLS:C1857776 {source="MEDGEN:347542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017359 {source="DC-OMIM:610198", source="DOID:0110000", source="MONDO:Redundant", source="OMIM:610198", source="Orphanet:66634"} ! 3-methylglutaconic aciduria
intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30528 ! DNAJC19
relationship: disease_has_major_feature HP:0001644 {source="Orphanet:66634"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:66634", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30528 {source="MONDO:mim2gene_medgen"} ! DNAJC19
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v" xsd:anyURI {source="GARD:0010344"}

[Term]
id: MONDO:0012436
name: neonatal diabetes mellitus with congenital hypothyroidism
def: "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others" [Orphanet:79118]
subset: gard_rare {source="GARD:16699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79118"}
subset: orphanet_rare {source="Orphanet:79118"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes mellitus, neonatal, with congenital hypothyroidism" RELATED [OMIM:610199]
synonym: "NDH" RELATED ABBREVIATION [OMIM:610199]
synonym: "NDH syndrome" EXACT [DOID:0060638]
synonym: "Ndh syndrome" RELATED [OMIM:610199]
synonym: "neonatal diabetes mellitus with congenital hypothyroidism" EXACT CLINGEN_LABEL []
synonym: "neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" RELATED [Orphanet:79118]
xref: DOID:0060638 {source="MONDO:equivalentTo"}
xref: GARD:16699 {source="MONDO:GARD"}
xref: MEDGEN:347541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565705 {source="MONDO:equivalentTo"}
xref: OMIM:610199 {source="Orphanet:79118", source="MONDO:equivalentTo", source="Orphanet:79118/e", source="DOID:0060638"}
xref: Orphanet:79118 {source="OMIM:610199", source="MONDO:equivalentTo", source="DOID:0060638"}
xref: UMLS:C1857775 {source="MEDGEN:347541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016391 {source="DOID:0060638"} ! neonatal diabetes mellitus
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:79118", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28510 {source="MONDO:mim2gene_medgen"} ! GLIS3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012437
name: cataract 21 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 21 multiple types with or without microcornea" EXACT [DOID:0110256]
synonym: "cataract 21, multiple types" RELATED [MONDO:Lexical, OMIM:610202]
synonym: "cataract 21, multiple types, with or without microcornea" RELATED [OMIM:610202]
synonym: "cataract, congenital, cerulean type, 4" RELATED [OMIM:610202]
synonym: "cataract, pulverulent, juvenile-onset" RELATED [OMIM:610202]
synonym: "CCA4" NARROW ABBREVIATION [DOID:0110256]
synonym: "congenital cataract cerulean type 4" NARROW [DOID:0110256]
synonym: "CTRCT21" EXACT ABBREVIATION [DOID:0110256, MONDO:Lexical, OMIM:610202]
synonym: "early-onset non-syndromic cataract caused by mutation in MAF" EXACT [MONDO:design_pattern]
synonym: "MAF early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110256 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110256"}
xref: MEDGEN:347538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565703 {source="MONDO:equivalentTo"}
xref: OMIM:610202 {source="MONDO:equivalentTo", source="DOID:0110256"}
xref: Orphanet:217052 {source="OMIM:610202"}
xref: Orphanet:91492 {source="OMIM:610202"}
xref: Orphanet:98984 {source="OMIM:610202", source="MONDO:directSiblingOf"}
xref: Orphanet:98989 {source="MONDO:relatedTo", source="OMIM:610202"}
xref: UMLS:C1857768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347538"}
is_a: MONDO:0005129 {source="DOID:0110256", source="MESH:C565703", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:610202"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6776 ! MAF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6776 {source="MONDO:mim2gene_medgen"} ! MAF

[Term]
id: MONDO:0012438
name: pontocerebellar hypoplasia type 5
def: "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." [Orphanet:166068]
subset: gard_rare {source="GARD:10709", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:166068"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT [Orphanet:166068]
synonym: "olivopontocerebellar hypoplasia fetal-onset" RELATED [GARD:0010709]
synonym: "olivopontocerebellar hypoplasia, fetal-onset" RELATED [OMIM:610204]
synonym: "PCH5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610204, Orphanet:166068]
synonym: "pontocerebellar hypoplasia, type 5" RELATED [MONDO:Lexical, OMIM:610204]
xref: DOID:0060274 {source="MONDO:equivalentTo"}
xref: GARD:10709 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:166068", source="Orphanet:166068/attributed", source="Orphanet:166068/ntbt"}
xref: MEDGEN:341845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537745 {source="DOID:0060274", source="MONDO:equivalentTo"}
xref: OMIM:610204 {source="DOID:0060274", source="Orphanet:166068", source="MONDO:equivalentTo", source="Orphanet:166068/e"}
xref: Orphanet:166068 {source="DOID:0060274", source="MONDO:equivalentObsolete", source="OMIM:610204"}
xref: SCTID:718607001 {source="MONDO:equivalentTo"}
xref: UMLS:C1857762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341845"}
is_a: MONDO:0020135 {source="DC-OMIM:610204", source="DOID:0060274", source="OMIM:610204", source="Orphanet:166068"} ! pontocerebellar hypoplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 {source="MONDO:mim2gene_medgen"} ! TSEN54
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5" xsd:anyURI {source="GARD:0010709"}

[Term]
id: MONDO:0012439
name: Alagille syndrome due to a NOTCH2 point mutation
subset: gard_rare {source="GARD:17252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261629"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261629"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alagille syndrome 2" RELATED [MONDO:Lexical, OMIM:610205]
synonym: "Alagille syndrome due to a NOTCH2 point mutation" EXACT CLINGEN_LABEL []
synonym: "Alagille syndrome type 2" EXACT [MONDORULE:1, OMIM:610205]
synonym: "Alagille-Watson syndrome due to a NOTCH2 point mutation" EXACT [Orphanet:261629]
synonym: "ALGS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610205]
synonym: "Arteriohepatic dysplasia due to a NOTCH2 point mutation" EXACT [Orphanet:261629]
synonym: "syndromic bile duct paucity due to a NOTCH2 point mutation" EXACT [Orphanet:261629]
xref: GARD:17252 {source="MONDO:GARD"}
xref: ICD10CM:Q44.7 {source="Orphanet:261629/attributed", source="Orphanet:261629/ntbt", source="Orphanet:261629"}
xref: MEDGEN:341844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610205 {source="Orphanet:261629", source="MONDO:equivalentTo", source="Orphanet:261629/e"}
xref: Orphanet:261629 {source="MONDO:equivalentTo", source="OMIM:610205"}
xref: Orphanet:52 {source="OMIM:610205"}
xref: UMLS:C1857761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341844"}
is_a: MONDO:0007318 {source="OMIM:610205", source="Orphanet:261629"} ! Alagille syndrome
relationship: has_characteristic SO:1000008 ! point_mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7882 {source="MONDO:mim2gene_medgen"} ! NOTCH2

[Term]
id: MONDO:0012440
name: migraine with or without aura, susceptibility to, 10
subset: predisposition
synonym: "Mgr10" RELATED [OMIM:610208]
synonym: "migraine with or without aura, susceptibility to, 10" EXACT [OMIM:610208]
synonym: "migraine with or without aura, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:610208]
synonym: "migraine with pulsation" RELATED [OMIM:610208]
xref: MEDGEN:341839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610208 {source="MONDO:equivalentTo"}
xref: UMLS:C1857752 {source="MEDGEN:341839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 {source="DC-OMIM:610208"} ! migraine with or without aura, susceptibility to

[Term]
id: MONDO:0012441
name: migraine with or without aura, susceptibility to, 11
subset: predisposition
synonym: "Mgr11" RELATED [OMIM:610209]
synonym: "migraine with or without aura, susceptibility to, 11" EXACT [OMIM:610209]
synonym: "migraine with or without aura, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:610209]
xref: MEDGEN:387900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610209 {source="MONDO:equivalentTo"}
xref: UMLS:C1857751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387900"}
is_a: MONDO:0100246 {source="DC-OMIM:610209"} ! migraine with or without aura, susceptibility to

[Term]
id: MONDO:0012442
name: autosomal recessive nonsyndromic hearing loss 66
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 66" NARROW [DOID:0110517]
synonym: "autosomal recessive nonsyndromic deafness 66" NARROW [OMIM:610212]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in DCDC2" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 66" NARROW [DOID:0110517, MONDORULE:2]
synonym: "DCDC2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 66" NARROW [MONDO:Lexical, OMIM:610212, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 66" NARROW [MONDORULE:2, OMIM:610212]
synonym: "DFNB66" NARROW ABBREVIATION [DOID:0110517, MONDO:Lexical, OMIM:610212]
xref: DOID:0110517 {source="MONDO:equivalentTo"}
xref: GARD:22621 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110517"}
xref: MEDGEN:346659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565701 {source="MONDO:equivalentTo"}
xref: OMIM:610212 {source="MONDO:equivalentTo", source="DOID:0110517"}
xref: UMLS:C1857750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346659"}
is_a: MONDO:0019588 {source="DC-OMIM:610212", source="DOID:0110517", source="MONDO:Redundant", source="OMIM:610212"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18141 ! DCDC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18141 {source="MONDO:mim2gene_medgen"} ! DCDC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012443
name: aneurysm, intracranial berry, 4
subset: gard_rare {source="GARD:18323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 4" RELATED [MONDO:Lexical, OMIM:610213]
synonym: "ANIB4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610213]
xref: DOID:0080967 {source="MONDO:equivalentTo"}
xref: GARD:18323 {source="MONDO:GARD"}
xref: MEDGEN:341838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565700 {source="MONDO:equivalentTo"}
xref: OMIM:610213 {source="MONDO:equivalentTo"}
xref: UMLS:C1857749 {source="MEDGEN:341838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016483 {source="DC-OMIM:610213", source="OMIM:610213"} ! intracranial berry aneurysm

[Term]
id: MONDO:0012444
name: neurodegeneration with brain iron accumulation 2B
comment: NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset.
subset: gard_rare {source="GARD:10688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "atypical neuroaxonal dystrophy" RELATED [GARD:0010688]
synonym: "early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline" RELATED [GARD:0010688]
synonym: "Karak syndrome" RELATED [OMIM:610217]
synonym: "NBIA2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610217]
synonym: "NBIA2b" EXACT [DOID:0110736]
synonym: "neuroaxonal dystrophy, atypical" EXACT [DOID:0110736, OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation 2B" EXACT [MONDO:Lexical, OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation type 2B" EXACT [MONDORULE:4, OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation type 2b" EXACT [DOID:0110736, MONDORULE:4]
synonym: "neurodegeneration with brain iron accumulation, Pla2G6-related" RELATED [OMIM:610217]
synonym: "neurodegeneration with brain iron accumulation, Pla2g6-related" EXACT [DOID:0110736]
xref: DOID:0110736 {source="MONDO:equivalentTo"}
xref: GARD:10688 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="DOID:0110736"}
xref: MEDGEN:346658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200538 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:610217 {source="DOID:0110736", source="MONDO:equivalentTo"}
xref: Orphanet:35069 {source="OMIM:610217"}
xref: UMLS:C1857747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346658"}
is_a: MONDO:0018307 {source="DOID:0110736", source="MONDO:Redundant", source="OMIM:610217"} ! neurodegeneration with brain iron accumulation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 {source="MONDO:mim2gene_medgen"} ! PLA2G6

[Term]
id: MONDO:0012445
name: autosomal recessive nonsyndromic hearing loss 59
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 59" NARROW [DOID:0110511]
synonym: "autosomal recessive nonsyndromic deafness 59" NARROW [OMIM:610220]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PJVK" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 59" NARROW [DOID:0110511, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 59" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 59" NARROW [MONDO:Lexical, OMIM:610220, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 59" NARROW [MONDORULE:2, OMIM:610220]
synonym: "DFNB59" NARROW ABBREVIATION [DOID:0110511, MONDO:Lexical, OMIM:610220]
synonym: "PJVK autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110511 {source="MONDO:equivalentTo"}
xref: GARD:22622 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110511"}
xref: MEDGEN:387899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565698 {source="MONDO:equivalentTo"}
xref: OMIM:610220 {source="DOID:0110511", source="MONDO:equivalentTo"}
xref: UMLS:C1857744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387899"}
is_a: MONDO:0019588 {source="DC-OMIM:610220", source="DOID:0110511", source="MONDO:Redundant", source="OMIM:610220"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29502 ! PJVK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29502 {source="MONDO:mim2gene_medgen"} ! PJVK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012446
name: seborrhea-like dermatitis with psoriasiform elements
subset: gard_rare {source="GARD:17039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168606"}
subset: orphanet_rare {source="Orphanet:168606"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "seborrhea-like dermatitis with psoriasiform elements" EXACT [OMIM:610227]
xref: GARD:17039 {source="MONDO:GARD"}
xref: MEDGEN:342832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565217 {source="MONDO:equivalentTo"}
xref: OMIM:610227 {source="Orphanet:168606/e", source="MONDO:equivalentTo", source="Orphanet:168606"}
xref: Orphanet:168606 {source="MONDO:equivalentTo", source="OMIM:610227"}
xref: UMLS:C1853258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342832"}
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25843 {source="MONDO:mim2gene_medgen"} ! ZNF750

[Term]
id: MONDO:0012447
name: synpolydactyly type 3
subset: gard_rare {source="GARD:17360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295199"}
subset: rare
synonym: "SD2, Malik type" EXACT [Orphanet:295199]
synonym: "SD2c" EXACT [Orphanet:295199]
synonym: "SPD, Malik type" EXACT [Orphanet:295199]
synonym: "SPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610234, Orphanet:295199]
synonym: "synpolydactyly 3" RELATED [MONDO:Lexical, OMIM:610234]
synonym: "synpolydactyly, Malik type" EXACT [Orphanet:295199]
xref: GARD:17360 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"}
xref: ICD10CM:Q70.2 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"}
xref: MEDGEN:344005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565216 {source="MONDO:equivalentTo"}
xref: OMIM:610234 {source="Orphanet:295199", source="MONDO:equivalentTo", source="Orphanet:295199/e"}
xref: Orphanet:295199 {source="OMIM:610234", source="MONDO:equivalentTo"}
xref: Orphanet:93403 {source="OMIM:610234"}
xref: UMLS:C1853255 {source="MEDGEN:344005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000722 {source="DC-OMIM:610234"} ! non-syndromic synpolydactyly
is_a: MONDO:0021651 {source="Orphanet:295199"} ! synpolydactyly

[Term]
id: MONDO:0012448
name: hereditary spastic paraplegia 33
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 33" EXACT [DOID:0110784]
synonym: "hereditary spastic paraplegia caused by mutation in ZFYVE27" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 33" EXACT [DOID:0110784, MONDORULE:2]
synonym: "spastic paraplegia 33, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610244]
synonym: "SPG33" EXACT ABBREVIATION [DOID:0110784, MONDO:Lexical, OMIM:610244]
synonym: "ZFYVE27 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110784 {source="MONDO:equivalentTo"}
xref: MEDGEN:339943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565214 {source="MONDO:equivalentTo"}
xref: OMIM:610244 {source="MONDO:equivalentTo", source="DOID:0110784"}
xref: UMLS:C1853251 {source="MEDGEN:339943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DC-OMIM:610244", source="DOID:0110784", source="MESH:C565214", source="MONDO:Redundant", source="OMIM:610244"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26559 ! ZFYVE27
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26559 {source="MONDO:mim2gene_medgen"} ! ZFYVE27

[Term]
id: MONDO:0012449
name: spinocerebellar ataxia type 23
def: "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." [Orphanet:101108]
subset: gard_rare {source="GARD:9950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101108"}
subset: orphanet_rare {source="Orphanet:101108"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610245, Orphanet:101108]
synonym: "spinocerebellar ataxia 23" RELATED [MONDO:Lexical, OMIM:610245]
synonym: "spinocerebellar ataxia type 23" EXACT [MONDORULE:2, OMIM:610245]
xref: DOID:0050973 {source="MONDO:equivalentTo"}
xref: GARD:9950 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:101108", source="Orphanet:101108/attributed", source="Orphanet:101108/ntbt"}
xref: MEDGEN:339942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537201 {source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"}
xref: OMIM:610245 {source="DOID:0050973", source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"}
xref: Orphanet:101108 {source="OMIM:610245", source="MONDO:equivalentTo"}
xref: SCTID:718772002 {source="MONDO:equivalentTo"}
xref: UMLS:C1853250 {source="MEDGEN:339942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:101108"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8820 {source="MONDO:mim2gene_medgen"} ! PDYN

[Term]
id: MONDO:0012450
name: spinocerebellar ataxia type 28
def: "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." [Orphanet:101109]
subset: gard_rare {source="GARD:9951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101109"}
subset: orphanet_rare {source="Orphanet:101109"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610246, Orphanet:101109]
synonym: "spinocerebellar ataxia 28" RELATED [MONDO:Lexical, OMIM:610246]
synonym: "spinocerebellar ataxia type 28" EXACT [MONDORULE:2, OMIM:610246]
xref: DOID:0050977 {source="MONDO:equivalentTo"}
xref: GARD:9951 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:101109/attributed", source="Orphanet:101109/ntbt", source="Orphanet:101109"}
xref: MEDGEN:339941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537205 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="Orphanet:101109"}
xref: OMIM:610246 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="DOID:0050977", source="Orphanet:101109"}
xref: Orphanet:101109 {source="MONDO:equivalentTo", source="OMIM:610246"}
xref: SCTID:715824008 {source="MONDO:equivalentTo"}
xref: UMLS:C1853249 {source="MEDGEN:339941", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019792 {source="Orphanet:101109"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 {source="MONDO:mim2gene_medgen"} ! AFG3L2

[Term]
id: MONDO:0012451
name: esophagitis, eosinophilic, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EOE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610247]
synonym: "esophagitis, eosinophilic" RELATED [OMIM:610247]
synonym: "esophagitis, eosinophilic, 1" EXACT [MONDO:Lexical, OMIM:610247]
xref: MEDGEN:1634032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610247 {source="MONDO:equivalentTo"}
xref: Orphanet:73247 {source="OMIM:610247"}
xref: UMLS:C4551589 {source="MEDGEN:1634032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005361 {source="DC-OMIM:610247"} ! eosinophilic esophagitis

[Term]
id: MONDO:0012452
name: autosomal recessive nonsyndromic hearing loss 65
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3." [DOID:0110516, PMID:16596430]
subset: gard_rare {source="GARD:22623", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 65" NARROW [DOID:0110516]
synonym: "autosomal recessive nonsyndromic deafness 65" NARROW [OMIM:610248]
synonym: "autosomal recessive nonsyndromic deafness type 65" NARROW [DOID:0110516, MONDORULE:2]
synonym: "deafness, autosomal recessive 65" NARROW [MONDO:Lexical, OMIM:610248, OMIM:genemap2]
synonym: "DFNB65" NARROW ABBREVIATION [DOID:0110516, MONDO:Lexical, OMIM:610248]
xref: DOID:0110516 {source="MONDO:equivalentTo"}
xref: GARD:22623 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110516"}
xref: MEDGEN:344004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565211 {source="MONDO:equivalentTo"}
xref: OMIM:610248 {source="DOID:0110516", source="MONDO:equivalentTo"}
xref: UMLS:C1853248 {source="MONDO:equivalentTo", source="MEDGEN:344004", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:610248", source="DOID:0110516", source="OMIM:610248"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012453
name: hereditary spastic paraplegia 31
def: "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense." [Orphanet:101011]
subset: gard_rare {source="GARD:10817", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101011"}
subset: orphanet_rare {source="Orphanet:101011"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 31" EXACT [DOID:0110782]
synonym: "autosomal dominant spastic paraplegia type 31" EXACT [DOID:0110782]
synonym: "hereditary spastic paraplegia caused by mutation in REEP1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 31" EXACT [DOID:0110782, MONDORULE:2]
synonym: "REEP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 31" RELATED [GARD:0010817]
synonym: "spastic paraplegia 31, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610250]
synonym: "SPG31" EXACT ABBREVIATION [DOID:0110782, MONDO:Lexical, OMIM:610250, Orphanet:101011]
xref: DOID:0110782 {source="MONDO:equivalentTo"}
xref: GARD:10817 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:101011", source="Orphanet:101011/attributed", source="Orphanet:101011/ntbt", source="DOID:0110782"}
xref: MEDGEN:377858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565210 {source="MONDO:equivalentTo"}
xref: OMIM:610250 {source="Orphanet:101011", source="MONDO:equivalentTo", source="Orphanet:101011/e", source="DOID:0110782"}
xref: Orphanet:101011 {source="MONDO:equivalentTo", source="DOID:0110782", source="OMIM:610250"}
xref: SCTID:763068005 {source="MONDO:equivalentTo"}
xref: UMLS:C1853247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377858"}
is_a: MONDO:0019064 {source="DOID:0110782", source="MESH:C565210", source="MONDO:Redundant", source="OMIM:610250", source="Orphanet:101011/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25786 ! REEP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25786 {source="MONDO:mim2gene_medgen"} ! REEP1

[Term]
id: MONDO:0012454
name: alcohol sensitivity, acute
def: "Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment." [https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity]
synonym: "acute alcohol sensitivity" RELATED [GARD:0012634]
synonym: "alcohol intolerance" RELATED [GARD:0012634]
synonym: "alcohol sensitivity, acute" EXACT [OMIM:610251]
synonym: "Hangover, susceptibility to" RELATED [OMIM:610251]
xref: MEDGEN:390639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610251 {source="MONDO:equivalentTo"}
xref: UMLS:C2674838 {source="MEDGEN:390639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021698 {source="OMIM:610251"} ! alcohol-related disorders
relationship: disease_has_basis_in_disruption_of GO:0004029 ! aldehyde dehydrogenase (NAD+) activity
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/404 {source="MONDO:mim2gene_medgen"} ! ALDH2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity" xsd:anyURI {source="GARD:0012634"}

[Term]
id: MONDO:0012455
name: Kleefstra syndrome
def: "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." [Orphanet:261494]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:184097"}
subset: ordo_disorder {source="Orphanet:261494"}
subset: ordo_malformation_syndrome {source="Orphanet:261494"}
subset: orphanet_rare {source="Orphanet:261494"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "9Q subtelomeric deletion syndrome" EXACT [OMIM:610253]
synonym: "9q subtelomeric deletion syndrome" RELATED EXCLUDE [DOID:0060352]
synonym: "9Q- syndrome" EXACT [OMIM:610253]
synonym: "9q-syndrome" EXACT [DOID:0060352]
synonym: "9q34 deletion syndrome" EXACT [DOID:0060352]
synonym: "9q34.3 microdeletion syndrome" EXACT [GARD:0008672]
synonym: "chromosome 9q deletion syndrome" EXACT [GARD:0008672]
synonym: "chromosome 9Q34.3 deletion syndrome" EXACT [OMIM:610253]
synonym: "Kleefstra syndrome" EXACT CLINGEN_LABEL [OMIM:610253]
xref: DOID:0080597 {source="MONDO:equivalentTo"}
xref: GARD:8672 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:261494/attributed", source="Orphanet:261494/ntbt", source="Orphanet:261494"}
xref: MEDGEN:1684615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200959 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:184097 {source="MONDO:NORD"}
xref: OMIMPS:610253 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:261494 {source="DOID:0060352", source="OMIM:610253", source="MONDO:equivalentTo"}
xref: UMLS:C4551771 {source="MEDGEN:1684615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:261494"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:261494", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610253"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome" xsd:anyURI {source="GARD:0008672"}

[Term]
id: MONDO:0012456
name: congenital primary aphakia
def: "Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents." [Orphanet:83461]
subset: gard_rare {source="GARD:9952", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83461"}
subset: ordo_malformation_syndrome {source="Orphanet:83461"}
subset: orphanet_rare {source="Orphanet:83461"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior segment dysgenesis 2" RELATED [OMIM:610256]
synonym: "anterior segment dysgenesis 2, multiple subtypes" EXACT [OMIM:610256, OMIM:genemap2]
synonym: "aphakia, congenital primary" EXACT [DOID:11367, OMIM:610256]
synonym: "ASGD2" RELATED ABBREVIATION [OMIM:610256]
synonym: "congenital absence of lens" EXACT [DOID:11367]
synonym: "congenital aphakia" EXACT [Orphanet:83461]
synonym: "CPA" RELATED ABBREVIATION [OMIM:610256]
xref: DOID:0080607 {source="MONDO:equivalentTo"}
xref: DOID:11367 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:9952 {source="MONDO:GARD"}
xref: ICD10CM:Q12.3 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e", source="DOID:11367", source="Orphanet:83461/specific"}
xref: icd11.foundation:885383581 {source="Orphanet:83461", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:743.35 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11367"}
xref: MedDRA:10002947 {source="Orphanet:83461", source="Orphanet:83461/e"}
xref: MEDGEN:339935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537786 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e"}
xref: NCIT:C35172 {source="MONDO:equivalentTo", source="DOID:11367"}
xref: OMIM:610256 {source="Orphanet:83461", source="MONDO:equivalentTo", source="Orphanet:83461/e", source="DOID:11367"}
xref: Orphanet:83461 {source="OMIM:610256", source="MONDO:equivalentTo"}
xref: SCTID:35387008 {source="MONDO:equivalentTo", source="DOID:11367"}
xref: UMLS:C1853230 {source="MEDGEN:339935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001176 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred"} ! lens disorder
is_a: MONDO:0019503 {source="DC-OMIM:610256", source="OMIM:610256"} ! anterior segment dysgenesis
relationship: disease_has_major_feature HP:0007707 ! Congenital aphakia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3808 {source="MONDO:mim2gene_medgen"} ! FOXE3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012457
name: pyloric stenosis, infantile hypertrophic, 2
synonym: "IHPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610260]
synonym: "pyloric stenosis, infantile hypertrophic, 2" EXACT [MONDO:Lexical, OMIM:610260]
xref: MEDGEN:339934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565208 {source="MONDO:equivalentTo"}
xref: OMIM:610260 {source="MONDO:equivalentTo"}
xref: UMLS:C1853228 {source="MONDO:equivalentTo", source="MEDGEN:339934", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100239 {source="DC-OMIM:610260", source="MESH:C565208", source="OMIM:610260"} ! inherited hypertrophic pyloric stenosis

[Term]
id: MONDO:0012458
name: hypertension, essential, susceptibility to, 5
subset: predisposition
synonym: "hypertension, essential, body Mass-related" RELATED [OMIM:610261]
synonym: "hypertension, essential, susceptibility to, 5" EXACT [OMIM:610261]
synonym: "hypertension, essential, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:610261]
synonym: "Hyt5" RELATED [OMIM:610261]
xref: MEDGEN:339933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610261 {source="MONDO:equivalentTo"}
xref: UMLS:C1853227 {source="MEDGEN:339933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:610261", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0001134 {source="OMIM:610261", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
relationship: excluded_subClassOf MONDO:0007781 {source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension, genetic
relationship: predisposes_towards MONDO:0007781 {source="OMIM:610261"} ! essential hypertension, genetic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012459
name: hypertension, essential, susceptibility to, 6
subset: predisposition
synonym: "hypertension, essential, kidney function-related" RELATED [OMIM:610262]
synonym: "hypertension, essential, susceptibility to, 6" EXACT [OMIM:610262]
synonym: "hypertension, essential, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:610262]
synonym: "Hyt6" RELATED [OMIM:610262]
xref: MEDGEN:377855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610262 {source="MONDO:equivalentTo"}
xref: UMLS:C1853226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377855"}
is_a: MONDO:0020573 {source="OMIM:610262", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0001134 {source="OMIM:610262", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
relationship: excluded_subClassOf MONDO:0007781 {source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension, genetic
relationship: predisposes_towards MONDO:0007781 {source="OMIM:610262"} ! essential hypertension, genetic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012460
name: autosomal recessive nonsyndromic hearing loss 67
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 67" NARROW [DOID:0110518]
synonym: "autosomal recessive nonsyndromic deafness 67" NARROW [OMIM:610265]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 67" NARROW [DOID:0110518, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 67" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 67" NARROW [MONDO:Lexical, OMIM:610265, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 67" NARROW [MONDORULE:2, OMIM:610265]
synonym: "DFNB67" NARROW ABBREVIATION [DOID:0110518, MONDO:Lexical, OMIM:610265]
synonym: "LHFPL5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110518 {source="MONDO:equivalentTo"}
xref: GARD:22624 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110518"}
xref: MEDGEN:343997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565207 {source="MONDO:equivalentTo"}
xref: OMIM:610265 {source="DOID:0110518", source="MONDO:equivalentTo"}
xref: UMLS:C1853223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343997"}
is_a: MONDO:0019588 {source="DC-OMIM:610265", source="DOID:0110518", source="MONDO:Redundant", source="OMIM:610265"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21253 ! LHFPL5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21253 {source="MONDO:mim2gene_medgen"} ! LHFPL5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012461
name: obsolete bulimia nervosa, susceptibility to, 2
xref: OMIM:610269 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1705" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011846

[Term]
id: MONDO:0012462
name: autosomal recessive frontotemporal pachygyria
subset: gard_rare {source="GARD:21489", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:329329"}
subset: ordo_malformation_syndrome {source="Orphanet:329329"}
subset: orphanet_rare {source="Orphanet:329329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pachygyria, frontotemporal" RELATED [OMIM:610279]
xref: GARD:21489 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:329329/attributed", source="Orphanet:329329/ntbt", source="Orphanet:329329"}
xref: MEDGEN:343995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538092 {source="MONDO:equivalentTo"}
xref: OMIM:610279 {source="MONDO:equivalentTo"}
xref: Orphanet:329329 {source="MONDO:equivalentTo"}
xref: UMLS:C1853215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343995"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0012463
name: retinitis pigmentosa 35
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10402", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 35" EXACT [MONDO:Lexical, OMIM:610282]
synonym: "retinitis pigmentosa caused by mutation in SEMA4A" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 35" EXACT [DOID:0110357, MONDORULE:2, OMIM:610282]
synonym: "RP 35" RELATED [GARD:0010402]
synonym: "RP35" EXACT ABBREVIATION [DOID:0110357, MONDO:Lexical, OMIM:610282]
synonym: "SEMA4A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110357 {source="MONDO:equivalentTo"}
xref: GARD:10402 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110357", source="MONDO:relatedTo"}
xref: MEDGEN:339931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565206 {source="MONDO:equivalentTo"}
xref: OMIM:610282 {source="DOID:0110357", source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:610282"}
xref: UMLS:C1853214 {source="MEDGEN:339931", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:610282", source="DOID:0110357", source="MESH:C565206", source="MONDO:Redundant", source="OMIM:610282"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 ! SEMA4A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 {source="MONDO:mim2gene_medgen"} ! SEMA4A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10402/retinitis-pigmentosa-35" xsd:anyURI {source="GARD:0010402"}

[Term]
id: MONDO:0012464
name: cone-rod dystrophy 10
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15477", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 10" EXACT [MONDO:Lexical, OMIM:610283]
synonym: "cone-rod dystrophy caused by mutation in SEMA4A" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 10" EXACT [DOID:0111017, MONDORULE:2, OMIM:610283]
synonym: "CORD10" EXACT ABBREVIATION [DOID:0111017, MONDO:Lexical, OMIM:610283]
synonym: "SEMA4A cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111017 {source="MONDO:equivalentTo"}
xref: GARD:15477 {source="MONDO:GARD"}
xref: MEDGEN:337598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564597 {source="MONDO:equivalentTo"}
xref: OMIM:610283 {source="DOID:0111017", source="MONDO:equivalentTo"}
xref: Orphanet:1872 {source="OMIM:610283"}
xref: UMLS:C1846529 {source="MEDGEN:337598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:610283", source="DOID:0111017", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 ! SEMA4A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 {source="MONDO:mim2gene_medgen"} ! SEMA4A

[Term]
id: MONDO:0012465
name: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
def: "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." [Orphanet:83639]
subset: gard_rare {source="GARD:9965", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83639"}
subset: orphanet_rare {source="Orphanet:83639"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital disorder of glycosylation due to PIGM deficiency" RELATED [GARD:0009965]
synonym: "glycosylphosphatidylinositol biosynthesis defect 1" RELATED [OMIM:610293]
synonym: "glycosylphosphatidylinositol deficiency" RELATED [OMIM:610293]
synonym: "GPI deficiency" RELATED [OMIM:610293]
synonym: "GPID" RELATED ABBREVIATION [OMIM:610293]
synonym: "PIGM-CDG" EXACT [Orphanet:83639]
xref: GARD:9965 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:83639/attributed", source="Orphanet:83639/ntbt", source="Orphanet:83639"}
xref: MEDGEN:1684821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200983 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:610293 {source="Orphanet:83639/e", source="MONDO:equivalentTo", source="Orphanet:83639"}
xref: Orphanet:83639 {source="MONDO:equivalentTo", source="OMIM:610293"}
xref: SCTID:724344004 {source="MONDO:equivalentTo"}
xref: UMLS:C5201145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684821"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0017748 {source="Orphanet:83639"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0021181 {source="MONDO:0016633-obsoleted"} ! inherited blood coagulation disorder
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic SO:1000008 ! point_mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18858 {source="MONDO:mim2gene_medgen"} ! PIGM
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency" xsd:anyURI {source="GARD:0009965"}

[Term]
id: MONDO:0012466
name: Parkinson disease 13, autosomal dominant, susceptibility to
def: "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "HTRA2 young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PARK13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610297]
synonym: "Parkinson disease 13" EXACT [OMIM:610297, OMIM:genemap2]
synonym: "Parkinson disease 13, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:610297]
synonym: "susceptibility to autosomal dominant Parkinson disease 13" RELATED [OMIM:610297]
synonym: "young-onset Parkinson disease caused by mutation in HTRA2" EXACT [MONDO:design_pattern]
xref: MEDGEN:343992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565204 {source="MONDO:equivalentTo"}
xref: OMIM:610297 {source="MONDO:equivalentTo"}
xref: Orphanet:2828 {source="OMIM:610297"}
xref: UMLS:C1853202 {source="MEDGEN:343992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14348 ! HTRA2
intersection_of: predisposes_towards MONDO:0005180 ! Parkinson disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14348 {source="MONDO:mim2gene_medgen"} ! HTRA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012467
name: cold-induced sweating syndrome 2
def: "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18277", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CISS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610313]
synonym: "CLCF1 cold-induced sweating syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cold-induced sweating syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610313]
synonym: "cold-induced sweating syndrome caused by mutation in CLCF1" EXACT [MONDO:design_pattern]
synonym: "cold-induced sweating syndrome type 2" EXACT [MONDORULE:1, OMIM:610313]
synonym: "CRISPONI/cold-induced sweating syndrome 2" RELATED [OMIM:610313]
synonym: "Crisponi/cold-induced sweating syndrome 2" RELATED [OMIM:610313]
xref: DOID:0080330 {source="MONDO:equivalentTo"}
xref: GARD:18277 {source="MONDO:GARD"}
xref: MEDGEN:342816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564791 {source="MONDO:equivalentTo"}
xref: OMIM:610313 {source="DOID:0080330", source="MONDO:equivalentTo"}
xref: Orphanet:157820 {source="OMIM:610313"}
xref: UMLS:C1853198 {source="MEDGEN:342816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015526 {source="DC-OMIM:610313", source="DOID:0080330", source="MONDO:Redundant", source="OMIM:610313"} ! cold-induced sweating syndrome
intersection_of: MONDO:0015526 ! cold-induced sweating syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17412 ! CLCF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17412 {source="MONDO:mim2gene_medgen"} ! CLCF1

[Term]
id: MONDO:0012468
name: rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
synonym: "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" EXACT [OMIM:610319]
xref: MEDGEN:342815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537610 {source="MONDO:equivalentTo"}
xref: OMIM:610319 {source="MONDO:equivalentTo"}
xref: UMLS:C1853197 {source="MEDGEN:342815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C537610/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9968/rhizomelic-dysplasia-scoliosis-and-retinitis-pigmentosa" xsd:anyURI {source="GARD:0009968"}

[Term]
id: MONDO:0012469
name: myopia 14
synonym: "myopia 14" EXACT [MONDO:Lexical, OMIM:610320]
synonym: "MYP14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610320]
xref: MEDGEN:343990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565202 {source="MONDO:equivalentTo"}
xref: OMIM:610320 {source="MONDO:equivalentTo"}
xref: UMLS:C1853196 {source="MEDGEN:343990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:610320", source="MESH:C565202", source="OMIM:610320"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012470
name: prostate cancer, hereditary, 7
subset: gard_rare {source="GARD:15478", source="MONDO:GARD"}
subset: rare
synonym: "HPC7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610321]
synonym: "prostate cancer aggressiveness" RELATED [OMIM:610321]
synonym: "prostate cancer, hereditary, 7" EXACT [MONDO:Lexical, OMIM:610321]
xref: GARD:15478 {source="MONDO:GARD"}
xref: MEDGEN:377849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565201 {source="MONDO:equivalentTo"}
xref: OMIM:610321 {source="MONDO:equivalentTo"}
xref: UMLS:C1853195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377849"}
is_a: MONDO:0008315 {source="DC-OMIM:610321", source="MONDO:0012470/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0012471
name: Aicardi-Goutieres syndrome 3
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15479", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610329]
synonym: "Aicardi-Goutieres syndrome 3" EXACT [MONDO:Lexical, OMIM:610329]
synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 3" EXACT [MONDORULE:1, OMIM:610329]
synonym: "RNASEH2C -related Aicardi-Goutieres syndrome" RELATED [GARD:0010895]
synonym: "RNASEH2C Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15479 {source="MONDO:GARD"}
xref: MEDGEN:324389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563683 {source="MONDO:equivalentTo"}
xref: NANDO:2200895 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:610329 {source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="OMIM:610329"}
xref: UMLS:C1835916 {source="MEDGEN:324389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018866 {source="DC-OMIM:610329", source="MONDO:Redundant", source="OMIM:610329"} ! Aicardi-Goutieres syndrome
is_a: MONDO:0700258 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! RNASEH2C-related type 1 interferonopathy
intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24116 ! RNASEH2C
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610329"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24116 {source="MONDO:mim2gene_medgen"} ! RNASEH2C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0012472
name: Aicardi-Goutieres syndrome 4
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610333]
synonym: "Aicardi-Goutieres syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610333]
synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2A" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 4" EXACT [MONDORULE:1, OMIM:610333]
synonym: "RNASEH2A Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RNASEH2A-related Aicardi-Goutieres syndrome" RELATED [GARD:0010896]
xref: GARD:15480 {source="MONDO:GARD"}
xref: MEDGEN:332084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563681 {source="MONDO:equivalentTo"}
xref: OMIM:610333 {source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="OMIM:610333"}
xref: UMLS:C1835912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332084"}
is_a: MONDO:0018866 {source="DC-OMIM:610333", source="MONDO:Redundant", source="OMIM:610333"} ! Aicardi-Goutieres syndrome
is_a: MONDO:0700259 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! RNASEH2A-related type 1 interferonopathy
intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18518 ! RNASEH2A
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610333"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18518 {source="MONDO:mim2gene_medgen"} ! RNASEH2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0012473
name: right pulmonary artery, anomalous origin of, familial
synonym: "anomalous origin of right pulmonary artery familial" RELATED [GARD:0010146]
synonym: "ARPA familial" RELATED [GARD:0010146]
synonym: "Arpa, familial" RELATED [OMIM:610338]
synonym: "familial anomalous origin of right pulmonary artery" RELATED [GARD:0010146]
synonym: "familial ARPA" RELATED [GARD:0010146]
synonym: "right pulmonary artery, anomalous origin of, familial" EXACT [OMIM:610338]
synonym: "right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus" RELATED [OMIM:610338]
xref: MEDGEN:322780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535681 {source="MONDO:equivalentTo"}
xref: OMIM:610338 {source="MONDO:equivalentTo"}
xref: UMLS:C1835910 {source="MEDGEN:322780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10146/anomalous-origin-of-right-pulmonary-artery-familial" xsd:anyURI {source="GARD:0010146"}

[Term]
id: MONDO:0012474
name: autosomal dominant nocturnal frontal lobe epilepsy 4
def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15481", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 4" EXACT [DOID:0060685, MONDORULE:1]
synonym: "CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "convulsions, benign familial infantile, 6" RELATED [OMIM:610353]
synonym: "ENFL4" EXACT ABBREVIATION [DOID:0060685, MONDO:Lexical, OMIM:610353]
synonym: "epilepsy, familial, with nocturnal wandering and Ictal fear" RELATED [OMIM:610353]
synonym: "epilepsy, nocturnal frontal lobe, 4" RELATED [MONDO:Lexical, OMIM:610353]
synonym: "epilepsy, nocturnal frontal lobe, type 4" EXACT [MONDORULE:1, OMIM:610353]
synonym: "nocturnal frontal lobe epilepsy 4" EXACT [DOID:0060685]
synonym: "seizures, benign familial infantile, 6" RELATED [OMIM:610353]
xref: DOID:0060685 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0081119 {source="MONDO:equivalentTo"}
xref: GARD:15481 {source="MONDO:GARD"}
xref: MEDGEN:332082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563679 {source="MONDO:equivalentTo"}
xref: OMIM:610353 {source="DOID:0060685", source="MONDO:equivalentTo"}
xref: Orphanet:98784 {source="OMIM:610353"}
xref: UMLS:C1835905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332082"}
is_a: MONDO:0000030 {source="DC-OMIM:610353", source="OMIM:610353"} ! sleep-related hypermotor epilepsy
is_a: MONDO:0020300 {source="DOID:0060685", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy
intersection_of: MONDO:0020300 ! autosomal dominant nocturnal frontal lobe epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1956 ! CHRNA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1956 {source="MONDO:mim2gene_medgen"} ! CHRNA2

[Term]
id: MONDO:0012475
name: cone dystrophy with supernormal rod response
def: "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." [Orphanet:209932]
subset: gard_rare {source="GARD:10649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209932"}
subset: orphanet_rare {source="Orphanet:209932"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cone dystrophy with night blindness and supernormal rod responses KCNV2 related" RELATED [GARD:0010649]
synonym: "cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related" RELATED [OMIM:610356]
synonym: "cone dystrophy with supernormal rod electroretinogram" EXACT [Orphanet:209932]
synonym: "cone dystrophy with supernormal rod ERG" EXACT [Orphanet:209932]
synonym: "cone dystrophy with supernormal rod response" EXACT CLINGEN_LABEL []
synonym: "cone dystrophy with supernormal Rod responses" RELATED [OMIM:610356]
synonym: "cone dystrophy with supernormal scotopic electroretinogram" EXACT [Orphanet:209932]
synonym: "RCD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610356]
synonym: "retinal cone dystrophy 3B" RELATED [MONDO:Lexical, OMIM:610356]
synonym: "retinal cone dystrophy type 3B" EXACT [MONDORULE:4, OMIM:610356]
xref: DOID:0081022 {source="MONDO:equivalentTo"}
xref: GARD:10649 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:209932/attributed", source="Orphanet:209932/ntbt", source="Orphanet:209932"}
xref: MEDGEN:332081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563678 {source="MONDO:equivalentTo"}
xref: OMIM:610356 {source="Orphanet:209932/e", source="MONDO:equivalentTo", source="Orphanet:209932"}
xref: Orphanet:209932 {source="MONDO:equivalentTo", source="OMIM:610356"}
xref: SCTID:719455002 {source="MONDO:equivalentTo"}
xref: UMLS:C1835897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332081"}
is_a: MONDO:0000455 {source="DC-OMIM:610356"} ! cone dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19698 {source="MONDO:mim2gene_medgen"} ! KCNV2

[Term]
id: MONDO:0012476
name: hereditary spastic paraplegia 30
def: "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy." [Orphanet:101010]
subset: gard_rare {source="GARD:16942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101010"}
subset: orphanet_rare {source="Orphanet:101010"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 30" EXACT [DOID:0110781]
synonym: "autosomal spastic paraplegia type 30" EXACT [DOID:0110781]
synonym: "hereditary spastic paraplegia caused by mutation in KIF1A" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 30" EXACT [DOID:0110781, MONDORULE:2]
synonym: "KIF1A hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 30, autosomal dominant" EXACT [OMIM:610357, OMIM:genemap2]
synonym: "spastic paraplegia 30, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610357]
synonym: "SPG30" EXACT ABBREVIATION [DOID:0110781, MONDO:Lexical, OMIM:610357, Orphanet:101010]
xref: DOID:0110781 {source="MONDO:equivalentTo"}
xref: GARD:16942 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:101010/attributed", source="Orphanet:101010/ntbt", source="DOID:0110781", source="Orphanet:101010"}
xref: MEDGEN:1710020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563677 {source="MONDO:equivalentTo"}
xref: OMIM:610357 {source="Orphanet:101010/e", source="MONDO:equivalentTo", source="DOID:0110781", source="Orphanet:101010"}
xref: Orphanet:101010 {source="MONDO:equivalentTo", source="OMIM:610357", source="DOID:0110781"}
xref: SCTID:763377006 {source="MONDO:equivalentTo"}
xref: UMLS:C5235139 {source="MEDGEN:1710020", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110781", source="MONDO:Redundant", source="OMIM:610357", source="Orphanet:101010/inferred"} ! hereditary spastic paraplegia
is_a: MONDO:0700055 {source="https://orcid.org/0000-0002-8134-1207"} ! KIF1A related neurological disorder
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 ! KIF1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 {source="MONDO:mim2gene_medgen"} ! KIF1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012477
name: retinitis pigmentosa 33
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 33" EXACT [MONDO:Lexical, OMIM:610359]
synonym: "retinitis pigmentosa caused by mutation in SNRNP200" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 33" EXACT [DOID:0110366, MONDORULE:2, OMIM:610359]
synonym: "RP 33" RELATED [GARD:0010400]
synonym: "RP33" EXACT ABBREVIATION [DOID:0110366, MONDO:Lexical, OMIM:610359]
synonym: "SNRNP200 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110366 {source="MONDO:equivalentTo"}
xref: GARD:10400 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110366"}
xref: MEDGEN:332080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563676 {source="MONDO:equivalentTo"}
xref: OMIM:610359 {source="MONDO:equivalentTo", source="DOID:0110366"}
xref: UMLS:C1835895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332080"}
is_a: MONDO:0019200 {source="DC-OMIM:610359", source="DOID:0110366", source="MESH:C563676", source="MONDO:Redundant", source="OMIM:610359"} ! retinitis pigmentosa
is_a: MONDO:0800098 {source="https://clinicalgenome.org/affiliation/40072/"} ! SNRNP200-related dominant retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30859 ! SNRNP200
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30859 {source="MONDO:mim2gene_medgen"} ! SNRNP200
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10400/retinitis-pigmentosa-33" xsd:anyURI {source="GARD:0010400"}

[Term]
id: MONDO:0012478
name: orofacial cleft 9
synonym: "cleft lip with or without cleft palate, nonsyndromic, 9" RELATED [OMIM:610361]
synonym: "OFC9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610361]
synonym: "orofacial cleft 9" EXACT [MONDO:Lexical, OMIM:610361]
xref: DOID:0080402 {source="MONDO:equivalentTo"}
xref: MEDGEN:332079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563675 {source="MONDO:equivalentTo"}
xref: OMIM:610361 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:610361"}
xref: UMLS:C1835894 {source="MEDGEN:332079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:610361"} ! orofacial cleft
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0012479
name: congenital malabsorptive diarrhea 4
def: "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." [Orphanet:83620]
subset: gard_rare {source="GARD:16729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83620"}
subset: orphanet_rare {source="Orphanet:83620"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital diarrhea caused by mutation in NEUROG3" EXACT [MONDO:design_pattern]
synonym: "congenital diarrhoea caused by mutation in NEUROG3" EXACT OMO:0003005 []
synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [DOID:0060779]
synonym: "congenital malabsorptive diarrhea type 4" EXACT [DOID:0060779, MONDORULE:1]
synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT OMO:0003005 []
synonym: "congenital malabsorptive diarrhoea type 4" EXACT OMO:0003005 []
synonym: "DIAR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610370]
synonym: "diarrhea 4, malabsorptive, congenital" RELATED [MONDO:Lexical, OMIM:610370]
synonym: "diarrhoea 4, malabsorptive, congenital" RELATED OMO:0003005 []
synonym: "enteric anendocrinosis" EXACT [DOID:0060779, OMIM:610370, Orphanet:83620]
synonym: "NEUROG3 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEUROG3 congenital diarrhoea" EXACT OMO:0003005 []
xref: DOID:0060779 {source="MONDO:equivalentTo"}
xref: GARD:16729 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="Orphanet:83620/attributed", source="Orphanet:83620/ntbt", source="Orphanet:83620", source="DOID:0060779"}
xref: MEDGEN:372151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563673 {source="MONDO:equivalentTo"}
xref: OMIM:610370 {source="Orphanet:83620", source="MONDO:equivalentTo", source="Orphanet:83620/e", source="DOID:0060779"}
xref: Orphanet:83620 {source="MONDO:equivalentTo", source="DOID:0060779", source="OMIM:610370"}
xref: SCTID:722392003 {source="MONDO:equivalentTo"}
xref: UMLS:C1835888 {source="MEDGEN:372151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000824 {source="DC-OMIM:610370", source="DOID:0060779", source="MONDO:Redundant", source="OMIM:610370"} ! congenital diarrhea
intersection_of: MONDO:0000824 ! congenital diarrhea
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13806 ! NEUROG3
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13806 {source="MONDO:mim2gene_medgen"} ! NEUROG3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012480
name: diabetes mellitus, transient neonatal, 2
def: "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15482", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ABCC8 transient neonatal diabetes mellitus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, transient neonatal 2" EXACT [OMIM:610374, OMIM:genemap2]
synonym: "diabetes mellitus, transient neonatal, 2" EXACT [OMIM:610374]
synonym: "diabetes mellitus, transient neonatal, type 2" EXACT [MONDORULE:1, OMIM:610374]
synonym: "Tndm2" RELATED [OMIM:610374]
synonym: "transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8" EXACT []
xref: GARD:15482 {source="MONDO:GARD"}
xref: MEDGEN:372150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563672 {source="MONDO:equivalentTo"}
xref: OMIM:610374 {source="MONDO:equivalentTo"}
xref: Orphanet:99886 {source="OMIM:610374"}
xref: SCTID:609580007 {source="MONDO:equivalentTo"}
xref: UMLS:C1835887 {source="MEDGEN:372150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020525 {source="DC-OMIM:610374", source="MONDO:Redundant"} ! transient neonatal diabetes mellitus
intersection_of: MONDO:0020525 ! transient neonatal diabetes mellitus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 ! ABCC8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 {source="MONDO:mim2gene_medgen"} ! ABCC8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012481
name: mevalonic aciduria
def: "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." [Orphanet:29]
subset: gard_rare {source="GARD:3588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:29"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete mevalonate kinase deficiency" EXACT [Orphanet:29]
synonym: "HIDS" EXACT ABBREVIATION [NCIT:C84890]
synonym: "hyperimmunoglobulin D with periodic fever syndrome" EXACT [NCIT:C84890]
synonym: "MEVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610377]
synonym: "mevalonate kinase deficiency" RELATED EXCLUDE [DOID:0050452]
synonym: "mevalonic aciduria" EXACT [MONDO:Lexical, OMIM:610377]
synonym: "Mevalonicaciduria" RELATED [GARD:0003588]
synonym: "MKD" EXACT ABBREVIATION [NCIT:C84890]
synonym: "MVA" EXACT ABBREVIATION [Orphanet:29]
xref: DOID:0050452 {source="MONDO:equivalentTo"}
xref: GARD:3588 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:29", source="Orphanet:29/attributed", source="Orphanet:29/ntbt"}
xref: MedDRA:10072219 {source="Orphanet:29", source="Orphanet:29/e"}
xref: MEDGEN:368373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054078 {source="DOID:0050452", source="Orphanet:29", source="Orphanet:29/e"}
xref: NANDO:1200866 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84890 {source="DOID:0050452", source="MONDO:equivalentTo"}
xref: OMIM:610377 {source="DOID:0050452", source="MONDO:equivalentTo", source="Orphanet:29", source="Orphanet:29/e"}
xref: Orphanet:29 {source="OMIM:610377", source="MONDO:equivalentTo"}
xref: SCTID:124327008 {source="DOID:0050452"}
xref: SCTID:234538002 {source="DOID:0050452"}
xref: SCTID:718558008 {source="MONDO:equivalentTo"}
xref: UMLS:C1959626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:368373"}
is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C84890", source="Orphanet:29/inferred"} ! inherited lipid metabolism disorder
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0017708 {source="Orphanet:29", source="https://clinicalgenome.org/affiliation/40049/"} ! mevalonate kinase deficiency
relationship: excluded_subClassOf MONDO:0019053 {source="DOID:0050452", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisomal disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7530 {source="MONDO:mim2gene_medgen"} ! MVK
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria" xsd:anyURI {source="GARD:0003588"}

[Term]
id: MONDO:0012482
name: West Nile virus, susceptibility to
subset: predisposition
synonym: "West Nile virus, susceptibility to" EXACT [OMIM:610379]
synonym: "WNV, susceptibility to" RELATED [OMIM:610379]
xref: MEDGEN:372145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610379 {source="MONDO:equivalentTo"}
xref: UMLS:C1835867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372145"}
is_a: MONDO:0020573 {source="OMIM:610379", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0019376 {source="Orphanet:83476/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! West-Nile encephalitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1606 {source="MONDO:mim2gene_medgen"} ! CCR5
relationship: predisposes_towards MONDO:0019376 {source="OMIM:610379"} ! West-Nile encephalitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012483
name: cone-rod dystrophy 11
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 11" EXACT [MONDO:Lexical, OMIM:610381]
synonym: "cone-rod dystrophy caused by mutation in RAX2" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 11" EXACT [DOID:0111018, MONDORULE:2, OMIM:610381]
synonym: "CORD11" EXACT ABBREVIATION [DOID:0111018, MONDO:Lexical, OMIM:610381]
synonym: "RAX2 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111018 {source="MONDO:equivalentTo"}
xref: GARD:15484 {source="MONDO:GARD"}
xref: MEDGEN:322767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563671 {source="MONDO:equivalentTo"}
xref: OMIM:610381 {source="DOID:0111018", source="MONDO:equivalentTo"}
xref: Orphanet:1872 {source="OMIM:610381"}
xref: UMLS:C1835865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322767"}
is_a: MONDO:0015993 {source="DC-OMIM:610381", source="DOID:0111018", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 ! RAX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 {source="MONDO:mim2gene_medgen"} ! RAX2

[Term]
id: MONDO:0012484
name: prosopagnosia, hereditary
def: "An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "congenital prosopagnosia" RELATED [GARD:0010035]
synonym: "developmental prosopagnosia" RELATED [GARD:0010035]
synonym: "face blindness" RELATED [OMIM:610382]
synonym: "hereditary prosopagnosia" RELATED [GARD:0010035]
synonym: "hereditary prosopagnosia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "prosopagnosia, congenital" RELATED [OMIM:610382]
synonym: "prosopagnosia, developmental" RELATED [OMIM:610382]
synonym: "prosopagnosia, hereditary" EXACT [OMIM:610382]
xref: MEDGEN:419809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537242 {source="MONDO:equivalentTo"}
xref: OMIM:610382 {source="MONDO:equivalentTo"}
xref: UMLS:C2931455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419809"}
intersection_of: MONDO:0003227 ! prosopagnosia
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0012485
name: autosomal recessive nonsyndromic hearing loss 68
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 68" NARROW [DOID:0110519]
synonym: "autosomal recessive nonsyndromic deafness 68" NARROW [OMIM:610419]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in S1PR2" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 68" NARROW [DOID:0110519, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 68" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 68" NARROW [MONDO:Lexical, OMIM:610419, OMIM:genemap2]
synonym: "DFNB68" NARROW ABBREVIATION [DOID:0110519, MONDO:Lexical, OMIM:610419]
synonym: "S1PR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110519 {source="MONDO:equivalentTo"}
xref: GARD:22625 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110519"}
xref: MEDGEN:324374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563669 {source="MONDO:equivalentTo"}
xref: OMIM:610419 {source="MONDO:equivalentTo", source="DOID:0110519"}
xref: Orphanet:90636 {source="OMIM:610419"}
xref: UMLS:C1835854 {source="MEDGEN:324374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:610419", source="DOID:0110519", source="MONDO:Redundant", source="OMIM:610419"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3169 ! S1PR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3169 {source="MONDO:mim2gene_medgen"} ! S1PR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012486
name: preauricular tag, isolated, autosomal dominant, 1
synonym: "preauricular tag, isolated, autosomal dominant, 1" EXACT [OMIM:610420]
synonym: "preauricular Tag, isolated, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:610420]
xref: MEDGEN:369878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566904 {source="MONDO:equivalentTo"}
xref: OMIM:610420 {source="MONDO:equivalentTo"}
xref: UMLS:C1968893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369878"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012487
name: alopecia-intellectual disability syndrome 2
subset: gard_rare {source="GARD:4291", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alopecia intellectual disability syndrome 2" RELATED [GARD:0004291]
synonym: "alopecia with mild to moderate intellectual deficit" RELATED [GARD:0004291]
synonym: "alopecia-intellectual disability syndrome 2" EXACT [MONDO:Lexical, OMIM:610422]
synonym: "alopecia-mental retardation syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:610422]
synonym: "AMR syndrome 2" RELATED [GARD:0004291]
synonym: "APMR2" RELATED DEPRECATED [MONDO:Lexical, OMIM:610422]
xref: DOID:0080629 {source="MONDO:equivalentTo"}
xref: GARD:4291 {source="MONDO:GARD"}
xref: MEDGEN:372142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563668 {source="MONDO:equivalentTo"}
xref: OMIM:610422 {source="MONDO:equivalentTo"}
xref: Orphanet:2850 {source="OMIM:610422"}
xref: UMLS:C1835852 {source="MONDO:equivalentTo", source="MEDGEN:372142", source="MONDO:MEDGEN"}
is_a: MONDO:0008756 {source="OMIM:610422"} ! alopecia - intellectual disability syndrome

[Term]
id: MONDO:0012488
name: hepatitis B virus, susceptibility to
subset: predisposition
synonym: "HBV, resistance to" RELATED [OMIM:610424]
synonym: "HBV, susceptibility to" RELATED [OMIM:610424]
synonym: "hepatitis B virus infection, susceptibility to" EXACT [OMIM:610424, OMIM:genemap2]
synonym: "Hepatitis B Virus, resistance to" RELATED [OMIM:610424]
synonym: "hepatitis b virus, susceptibility to" EXACT [OMIM:610424]
xref: MEDGEN:400632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610424 {source="MONDO:equivalentTo"}
xref: UMLS:C1864880 {source="MONDO:equivalentTo", source="MEDGEN:400632", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:610424", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0003847 {source="OMIM:610424"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012489
name: cataract 23
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 23" EXACT [MONDO:Lexical, OMIM:610425]
synonym: "cataract 23, lamellar" RELATED [OMIM:610425]
synonym: "cataract 23, multiple types" RELATED [OMIM:610425]
synonym: "cataract 23, multiple types, with or without microcornea" RELATED [OMIM:610425]
synonym: "cataract type 23" EXACT [DOID:0110271, MONDORULE:2, OMIM:610425]
synonym: "CRYBA4 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT23" EXACT ABBREVIATION [DOID:0110271, MONDO:Lexical, OMIM:610425]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA4" EXACT [MONDO:design_pattern]
synonym: "lamellar cataract 23" EXACT [DOID:0110271]
xref: DOID:0110271 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110271"}
xref: MEDGEN:814342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610425 {source="DOID:0110271", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:610425"}
xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:610425"}
xref: UMLS:C3808012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814342"}
is_a: MONDO:0005129 {source="DOID:0110271", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:610425"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2396 ! CRYBA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2396 {source="MONDO:mim2gene_medgen"} ! CRYBA4

[Term]
id: MONDO:0012490
name: cone-rod synaptic disorder, congenital nonprogressive
subset: gard_rare {source="GARD:15485", source="MONDO:GARD"}
subset: rare
synonym: "cone-rod synaptic disorder, congenital nonprogressive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610427]
synonym: "CRSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610427]
synonym: "night blindness, congenital stationary, incomplete, autosomal recessive" RELATED [OMIM:610427]
synonym: "night blindness, congenital stationary, incomplete, autosomal recessive, formerly" RELATED [OMIM:610427]
synonym: "night blindness, congenital stationary, type 2B" RELATED [OMIM:610427]
synonym: "night blindness, congenital stationary, type 2B, formerly" RELATED [OMIM:610427]
xref: GARD:15485 {source="MONDO:GARD"}
xref: MEDGEN:874422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610427 {source="MONDO:equivalentTo"}
xref: Orphanet:215 {source="OMIM:610427"}
xref: UMLS:C4041558 {source="MEDGEN:874422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:610427"} ! congenital stationary night blindness
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1386 {source="MONDO:mim2gene_medgen"} ! CABP4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012491
name: macroglobulinemia, Waldenstrom, 2
subset: gard_rare {source="GARD:15486", source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "macroglobulinemia, WALDENSTROM, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:610430]
synonym: "WM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610430]
xref: GARD:15486 {source="MONDO:GARD"}
xref: MEDGEN:355856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610430 {source="MONDO:equivalentTo"}
xref: Orphanet:33226 {source="OMIM:610430"}
xref: UMLS:C1864876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355856"}
is_a: MONDO:0100280 {source="Orphanet:33226/btnt"} ! Waldenstrom macroglobulinemia

[Term]
id: MONDO:0012492
name: restless legs syndrome, susceptibility to, 3
subset: predisposition
synonym: "restless legs syndrome 3" EXACT [OMIM:610438, OMIM:genemap2]
synonym: "restless legs syndrome, susceptibility to, 3" EXACT [OMIM:610438]
synonym: "RLS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610438]
xref: MEDGEN:355315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610438 {source="MONDO:equivalentTo"}
xref: UMLS:C1864875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355315"}
is_a: MONDO:0100170 {source="OMIM:610438"} ! restless legs syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005391 {source="DC-OMIM:610438", source="OMIM:610438"} ! restless legs syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012493
name: restless legs syndrome, susceptibility to, 4
subset: predisposition
synonym: "restless legs syndrome 4" EXACT [OMIM:610439, OMIM:genemap2]
synonym: "restless legs syndrome, susceptibility to, 4" EXACT [OMIM:610439]
synonym: "RLS 4" RELATED [GARD:0010271]
synonym: "RLS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610439]
xref: MEDGEN:355855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610439 {source="MONDO:equivalentTo"}
xref: UMLS:C1864874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355855"}
is_a: MONDO:0100170 {source="OMIM:610439"} ! restless legs syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005391 {source="DC-OMIM:610439", source="OMIM:610439"} ! restless legs syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012494
name: testicular microlithiasis
synonym: "testicular microlithiasis" EXACT [MONDO:ambiguous, OMIM:610441]
synonym: "testicular microlithiasis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0012215 {source="MONDO:otherHierarchy"}
xref: MEDGEN:355854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566478 {source="MONDO:equivalentTo"}
xref: OMIM:610441 {source="MONDO:equivalentTo"}
xref: UMLS:C1864873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355854"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11020 {source="MONDO:mim2gene_medgen"} ! SLC34A2
property_value: IAO:0000589 "testicular microlithiasis (disease)" xsd:string

[Term]
id: MONDO:0012495
name: spondyloepimetaphyseal dysplasia, Genevieve type
def: "A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips." [https://orcid.org/0000-0001-5208-3432, Orphanet:168454]
subset: gard_rare {source="GARD:10057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168454"}
subset: orphanet_rare {source="Orphanet:168454"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Nans deficiency" RELATED [OMIM:610442]
synonym: "SEMD Genevieve type" RELATED [GARD:0010057]
synonym: "SEMD, Genevieve type" RELATED [OMIM:610442]
synonym: "SEMD, Geneviève type" EXACT [Orphanet:168454]
synonym: "SEMDG" EXACT ABBREVIATION [Orphanet:168454]
synonym: "spondyloepimetaphyseal dysplasia Genevieve type" RELATED [GARD:0010057]
synonym: "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" EXACT [OMIM:610442, OMIM:genemap2]
synonym: "spondyloepimetaphyseal dysplasia, Genevieve type" EXACT [OMIM:610442]
synonym: "spondyloepimetaphyseal dysplasia, Geneviève type" RELATED [Orphanet:168454]
xref: DOID:0080576 {source="MONDO:equivalentTo"}
xref: GARD:10057 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:168454/attributed", source="Orphanet:168454/ntbt", source="Orphanet:168454"}
xref: MEDGEN:355314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535785 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"}
xref: OMIM:610442 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"}
xref: Orphanet:168454 {source="OMIM:610442", source="MONDO:equivalentTo"}
xref: UMLS:C1864872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355314"}
is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:610442", source="Orphanet:168454", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19237 {source="MONDO:mim2gene_medgen"} ! NANS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0012496
name: Koolen-de Vries syndrome
def: "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." [Orphanet:96169]
comment: Editor note: DOID classifies as non-syndromic but we classify as syndromic
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10727", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:91169"}
subset: ordo_disorder {source="Orphanet:96169"}
subset: ordo_malformation_syndrome {source="Orphanet:96169"}
subset: orphanet_rare {source="Orphanet:96169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17q21.31 deletion syndrome" RELATED [GARD:0010727]
synonym: "17q21.31 microdeletion syndrome" RELATED EXCLUDE [DOID:0050880]
synonym: "chromosome 17Q21.31 deletion syndrome" RELATED [OMIM:610443]
synonym: "chromosome 17q21.31 deletion syndrome" EXACT [DOID:0070076]
synonym: "chromosome 17q21.31 microdeletion syndrome" RELATED [GARD:0010727]
synonym: "KANSL1-related intellectual disability syndrome" EXACT [DOID:0050880]
synonym: "KDVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610443]
synonym: "KdVS" EXACT [DOID:0050880, Orphanet:96169]
synonym: "Koolen de Vries syndrome" EXACT CLINGEN_LABEL []
synonym: "Koolen-DE Vries syndrome" RELATED [MONDO:Lexical, OMIM:610443]
synonym: "Koolen-De Vries syndrome" EXACT [DOID:0050880]
synonym: "microdeletion 17Q21.31 syndrome" RELATED [OMIM:610443]
synonym: "microdeletion 17q21.31 syndrome" EXACT [DOID:0070076]
xref: GARD:10727 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96169", source="Orphanet:96169/attributed", source="Orphanet:96169/ntbt"}
xref: MEDGEN:355853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566476 {source="https://github.com/monarch-initiative/mondo/issues/4174", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NORD:91169 {source="MONDO:NORD"}
xref: OMIM:610443 {source="DOID:0070076", source="DOID:0050880", source="Orphanet:96169", source="MONDO:equivalentTo", source="Orphanet:96169/e"}
xref: Orphanet:96169 {source="DOID:0050880", source="OMIM:610443", source="MONDO:equivalentTo"}
xref: SCTID:717338006
xref: UMLS:C1864871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355853"}
is_a: MONDO:0015159 {source="Orphanet:96169"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070076", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24565 {source="MONDO:mim2gene_medgen"} ! KANSL1

[Term]
id: MONDO:0012497
name: congenital stationary night blindness autosomal dominant 3
def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21." [DOID:0110715, PMID:8673138]
subset: gard_rare {source="GARD:15487", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness autosomal dominant type 3" EXACT [DOID:0110715, MONDORULE:1]
synonym: "CSNBAD3" EXACT ABBREVIATION [DOID:0110715, MONDO:Lexical, OMIM:610444]
synonym: "night blindness, congenital stationary, autosomal dominant 3" RELATED [MONDO:Lexical, OMIM:610444]
synonym: "night blindness, congenital stationary, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:610444]
synonym: "night blindness, congenital stationary, Nougaret type" RELATED [OMIM:610444]
synonym: "Nougaret type congenital stationary night blindness" EXACT [DOID:0110715]
xref: DOID:0110715 {source="MONDO:equivalentTo"}
xref: GARD:15487 {source="MONDO:GARD"}
xref: MEDGEN:355313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566475 {source="MONDO:equivalentTo"}
xref: OMIM:610444 {source="MONDO:equivalentTo", source="DOID:0110715"}
xref: UMLS:C1864870 {source="MEDGEN:355313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:610444", source="DOID:0110715", source="MONDO:Redundant", source="OMIM:610444"} ! congenital stationary night blindness
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4393 ! GNAT1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4393 {source="MONDO:mim2gene_medgen"} ! GNAT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012498
name: congenital stationary night blindness autosomal dominant 1
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15488", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness autosomal dominant type 1" EXACT [DOID:0110862, MONDORULE:1]
synonym: "congenital stationary night blindness caused by mutation in RHO" EXACT [MONDO:design_pattern]
synonym: "CSNBAD1" EXACT ABBREVIATION [DOID:0110862, MONDO:Lexical, OMIM:610445]
synonym: "night blindness, congenital stationary, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:610445]
synonym: "night blindness, congenital stationary, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:610445]
synonym: "night blindness, congenital stationary, rhodopsin-related" RELATED [OMIM:610445]
synonym: "RHO congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "rhodopsin-related congenital stationary night blindness" EXACT [DOID:0110862]
xref: DOID:0110862 {source="MONDO:equivalentTo"}
xref: GARD:15488 {source="MONDO:GARD"}
xref: MEDGEN:355852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566474 {source="MONDO:equivalentTo"}
xref: OMIM:610445 {source="MONDO:equivalentTo", source="DOID:0110862"}
xref: UMLS:C1864869 {source="MEDGEN:355852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:610445", source="DOID:0110862", source="MONDO:Redundant", source="OMIM:610445"} ! congenital stationary night blindness
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10012 ! RHO
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10012 {source="MONDO:mim2gene_medgen"} ! RHO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012499
name: Buruli ulcer, susceptibility to
subset: predisposition
synonym: "BUD" RELATED ABBREVIATION [GARD:0009520]
synonym: "Buruli ulcer, susceptibility to" EXACT [OMIM:610446]
synonym: "Mycobacterium ulcerans, susceptibility to" RELATED [OMIM:610446]
xref: MEDGEN:355851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610446 {source="MONDO:equivalentTo"}
xref: UMLS:C1864868 {source="MONDO:equivalentTo", source="MEDGEN:355851", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:610446", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10907 {source="MONDO:mim2gene_medgen"} ! SLC11A1
relationship: predisposes_towards MONDO:0000327 {source="OMIM:610446"} ! Buruli ulcer disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012500
name: chilblain lupus 1
def: "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18493", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHBL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610448]
synonym: "chilblain lupus" BROAD [OMIM:610448, OMIM:genemap2]
synonym: "chilblain lupus 1" EXACT [MONDO:Lexical, OMIM:610448]
synonym: "chilblain lupus caused by mutation in TREX1" EXACT [MONDO:design_pattern]
synonym: "chilblain lupus type 1" EXACT [MONDORULE:1, OMIM:610448]
synonym: "TREX1 chilblain lupus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18493 {source="MONDO:GARD"}
xref: MEDGEN:9822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610448 {source="MONDO:equivalentTo"}
xref: Orphanet:90280 {source="OMIM:610448"}
xref: UMLS:C0024145 {source="MEDGEN:9822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018827 {source="OMIM:610448"} ! familial chilblain lupus
is_a: MONDO:0019557 {source="DC-OMIM:610448", source="OMIM:610448"} ! chilblain lupus
is_a: MONDO:0700256 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! TREX1-related type 1 interferonopathy
intersection_of: MONDO:0019557 ! chilblain lupus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 ! TREX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 {source="MONDO:mim2gene_medgen"} ! TREX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0012501
name: obsolete mutagen sensitivity
comment: Reason: out of scope. Term to consider: None
synonym: "mutagen sensitivity" EXACT [OMIM:610452]
xref: OMIM:610452 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4132" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8273/mutagen-sensitivity" xsd:anyURI {source="GARD:0008273"}
is_obsolete: true

[Term]
id: MONDO:0012502
name: normophosphatemic familial tumoral calcinosis
subset: gard_rare {source="GARD:10878", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:306658"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "calcinosis, tumoral, with Normophosphatemia" RELATED [OMIM:610455]
synonym: "familial normophosphatemic tumoral calcinosis" RELATED [Orphanet:306658]
synonym: "NFTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610455]
synonym: "normophosphatemic familial tumoral calcinosis" EXACT CLINGEN_LABEL []
synonym: "tumoral calcinosis, familial, normophosphatemic" EXACT [OMIM:610455, OMIM:genemap2]
synonym: "tumoral calcinosis, normophosphatemic, familial" RELATED [MONDO:Lexical, OMIM:610455]
xref: DOID:0080170 {source="MONDO:equivalentTo"}
xref: GARD:10878 {source="MONDO:GARD"}
xref: ICD10CM:M11.2 {source="Orphanet:306658/attributed", source="Orphanet:306658/ntbt", source="Orphanet:306658"}
xref: MEDGEN:355311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566473 {source="MONDO:equivalentTo"}
xref: OMIM:610455 {source="Orphanet:306658", source="MONDO:equivalentTo", source="Orphanet:306658/e", source="DOID:0080170"}
xref: Orphanet:306658 {source="MONDO:equivalentTo", source="OMIM:610455"}
xref: Orphanet:53715 {source="OMIM:610455"}
xref: UMLS:C1864861 {source="MEDGEN:355311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018891 {source="DC-OMIM:610455", source="Orphanet:306658"} ! familial tumoral calcinosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1348 {source="MONDO:mim2gene_medgen"} ! SAMD9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis" xsd:anyURI {source="GARD:0010878"}

[Term]
id: MONDO:0012503
name: thiopurine S-methyltransferase deficiency
def: "An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "6-mercaptopurine sensitivity" RELATED [GARD:0005173]
synonym: "inborn error of thiopurine S-methyltransferase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn thiopurine S-methyltransferase activity disorder" EXACT []
synonym: "poor metabolism of thiopurines-1" EXACT [DOID:0080172]
synonym: "rare inborn error of thiopurine S-methyltransferase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "thiopurine methyltransferase deficiency" RELATED [GARD:0005173]
synonym: "thiopurine S methyltranferase deficiency" RELATED [GARD:0005173]
synonym: "thiopurine S-methyltransferase deficiency" EXACT [OMIM:610460]
synonym: "Thiopurines, poor metabolism of" RELATED [OMIM:610460]
synonym: "Thiopurines, poor metabolism of, 1" RELATED [OMIM:610460]
synonym: "thiopurines, poor metabolism of, 1" RELATED [OMIM:610460]
synonym: "THPM1" RELATED ABBREVIATION [OMIM:610460]
synonym: "TPMT deficiency" EXACT [DOID:0080172, OMIM:610460]
xref: DOID:0080172 {source="MONDO:equivalentTo"}
xref: MEDGEN:83352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536512 {source="MONDO:equivalentTo"}
xref: NCIT:C4389 {source="MONDO:equivalentTo"}
xref: OMIM:610460 {source="MONDO:equivalentTo", source="DOID:0080172"}
xref: Orphanet:3315 {source="OMIM:610460", source="MONDO:equivalentObsolete"}
xref: SCTID:238012003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83352"}
is_a: MONDO:0000210 {source="DC-OMIM:610460", source="OMIM:610460"} ! thiopurine metabolic disease
is_a: MONDO:0019052 {source="DOID:0080172", source="MESH:C536512/inferred", source="MONDO:Redundant", source="Orphanet:3315/inferred"} ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0008119 ! thiopurine S-methyltransferase activity
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12014 {source="MONDO:mim2gene_medgen"} ! TPMT

[Term]
id: MONDO:0012504
name: camptodactyly-tall stature-scoliosis-hearing loss syndrome
def: "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." [Orphanet:85164]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85164"}
subset: orphanet_rare {source="Orphanet:85164"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptodactyly, tall stature, and hearing loss syndrome" RELATED [OMIM:610474]
synonym: "CATSHL syndrome" EXACT [DOID:0111160, GARD:0010012, OMIM:610474, Orphanet:85164]
synonym: "CATSHLS" RELATED ABBREVIATION [OMIM:610474]
xref: DOID:0111160 {source="MONDO:equivalentTo"}
xref: GARD:10012 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:85164/attributed", source="Orphanet:85164/ntbt", source="Orphanet:85164"}
xref: MEDGEN:355844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537975 {source="MONDO:equivalentTo"}
xref: OMIM:610474 {source="GARD:0010012", source="DOID:0111160", source="Orphanet:85164/e", source="MONDO:equivalentTo", source="Orphanet:85164"}
xref: Orphanet:85164 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="MONDO:equivalentTo"}
xref: UMLS:C1864852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355844"}
is_a: MONDO:0000429 {source="DOID:0111160"} ! autosomal genetic disease
is_a: MONDO:0019685 {source="Orphanet:85164", source="PMID:31633310"} ! FGFR3-related chondrodysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012505
name: pigmented nodular adrenocortical disease, primary, 2
def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cushing syndrome, adrenal, due to PPNAD2" RELATED [OMIM:610475]
synonym: "PDE11A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pigmented micronodular adrenocortical disease, primary, 2" RELATED [OMIM:610475]
synonym: "pigmented nodular adrenocortical disease, primary, 2" EXACT [MONDO:Lexical, OMIM:610475]
synonym: "pigmented nodular adrenocortical disease, primary, type 2" EXACT [MONDORULE:1, OMIM:610475]
synonym: "PPNAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610475]
synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A" EXACT [MONDO:design_pattern]
xref: GARD:15489 {source="MONDO:GARD"}
xref: MEDGEN:355843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566472 {source="MONDO:equivalentTo"}
xref: OMIM:610475 {source="MONDO:equivalentTo"}
xref: Orphanet:189439 {source="OMIM:610475"}
xref: UMLS:C1864851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355843"}
is_a: MONDO:0015999 {source="DC-OMIM:610475", source="MONDO:Redundant", source="OMIM:610475"} ! primary pigmented nodular adrenocortical disease
intersection_of: MONDO:0015999 ! primary pigmented nodular adrenocortical disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8773 ! PDE11A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8773 {source="MONDO:mim2gene_medgen"} ! PDE11A

[Term]
id: MONDO:0012506
name: arrhythmogenic right ventricular dysplasia 11
def: "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 11" EXACT [DOID:0110082, OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia 11" EXACT CLINGEN_LABEL []
synonym: "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair" EXACT OMO:0003005 []
synonym: "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hair" EXACT [OMIM:610476, OMIM:genemap2]
synonym: "arrhythmogenic right ventricular dysplasia type 11" EXACT [DOID:0110082, MONDORULE:2]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11" RELATED [MONDO:Lexical, OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair" RELATED OMO:0003005 []
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without wooly hair" RELATED [OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair" RELATED OMO:0003005 []
synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and wooly hair" RELATED [OMIM:610476]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 11" EXACT [MONDORULE:2, OMIM:610476]
synonym: "ARVC11" EXACT ABBREVIATION [DOID:0110082]
synonym: "ARVD11" EXACT ABBREVIATION [DOID:0110082, MONDO:Lexical, OMIM:610476]
synonym: "DSC2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial arrhythmogenic right ventricular dysplasia 11" EXACT [DOID:0110082]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2" EXACT [MONDO:design_pattern]
xref: DOID:0110082 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110082"}
xref: MEDGEN:351237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566471 {source="MONDO:equivalentTo"}
xref: OMIM:610476 {source="DOID:0110082", source="MONDO:equivalentTo"}
xref: Orphanet:217656 {source="OMIM:610476"}
xref: UMLS:C1864850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351237"}
is_a: MONDO:0016342 {source="DOID:0110082", source="MESH:C566471", source="MONDO:Redundant", source="OMIM:610476", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3036 ! DSC2
relationship: excluded_subClassOf MONDO:0100080 {source="https://github.com/monarch-initiative/mondo/issues/2116", source="https://github.com/monarch-initiative/mondo/issues/577", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6733-369X"} ! cardioectodermal syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3036 {source="MONDO:mim2gene_medgen"} ! DSC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012507
name: retinal cone dystrophy 4
def: "Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10650", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CACNA2D4 cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone dystrophy caused by mutation in CACNA2D4" EXACT [MONDO:design_pattern]
synonym: "RCD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610478]
synonym: "retinal cone dystrophy 4" EXACT [MONDO:Lexical, OMIM:610478]
synonym: "retinal cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:610478]
xref: DOID:0081023 {source="MONDO:equivalentTo"}
xref: GARD:10650 {source="MONDO:GARD"}
xref: MEDGEN:355308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566470 {source="MONDO:equivalentTo"}
xref: OMIM:610478 {source="MONDO:equivalentTo"}
xref: UMLS:C1864849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355308"}
is_a: MONDO:0000455 {source="DC-OMIM:610478", source="MONDO:Redundant"} ! cone dystrophy
is_a: MONDO:0015993 ! cone-rod dystrophy
is_a: MONDO:0700244 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA2D4-related retinopathy
intersection_of: MONDO:0000455 ! cone dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 ! CACNA2D4
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 {source="MONDO:mim2gene_medgen"} ! CACNA2D4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4" xsd:anyURI {source="GARD:0010650"}

[Term]
id: MONDO:0012508
name: agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
def: "A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." [Orphanet:83617]
subset: gard_rare {source="GARD:10011", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:83617"}
subset: ordo_malformation_syndrome {source="Orphanet:83617"}
subset: orphanet_rare {source="Orphanet:83617"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agammaglobulinemia, microcephaly, and severe dermatitis" RELATED [OMIM:610483]
xref: GARD:10011 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:83617/attributed", source="Orphanet:83617/ntbt", source="Orphanet:83617"}
xref: MEDGEN:351236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538055 {source="MONDO:equivalentTo"}
xref: OMIM:610483 {source="Orphanet:83617/e", source="MONDO:equivalentTo", source="Orphanet:83617"}
xref: Orphanet:83617 {source="OMIM:610483", source="MONDO:equivalentTo"}
xref: SCTID:722281001 {source="MONDO:equivalentTo"}
xref: UMLS:C1864848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351236"}
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0015159 {source="Orphanet:83617"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016463 {source="Orphanet:83617"} ! syndromic agammaglobulinemia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:83617", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0012509
name: pigmented nodular adrenocortical disease, primary, 1
def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adrenocortical nodular dysplasia, primary" RELATED [OMIM:610489]
synonym: "Cushing syndrome, adrenal, due to PPNAD1" RELATED [OMIM:610489]
synonym: "pigmented micronodular adrenocortical disease, primary, 1" RELATED [OMIM:610489]
synonym: "pigmented nodular adrenocortical disease, primary, 1" EXACT [MONDO:Lexical, OMIM:610489]
synonym: "pigmented nodular adrenocortical disease, primary, type 1" EXACT [MONDORULE:1, OMIM:610489]
synonym: "PPNAD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610489]
synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern]
synonym: "PRKAR1A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18620 {source="MONDO:GARD"}
xref: MEDGEN:400627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566469 {source="MONDO:equivalentTo"}
xref: OMIM:610489 {source="MONDO:equivalentTo"}
xref: Orphanet:189439 {source="OMIM:610489"}
xref: UMLS:C1864846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400627"}
is_a: MONDO:0015999 {source="DC-OMIM:610489", source="MONDO:Redundant", source="OMIM:610489"} ! primary pigmented nodular adrenocortical disease
intersection_of: MONDO:0015999 ! primary pigmented nodular adrenocortical disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 ! PRKAR1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9388 {source="MONDO:mim2gene_medgen"} ! PRKAR1A

[Term]
id: MONDO:0012510
name: combined oxidative phosphorylation defect type 2
def: "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined." [Orphanet:254920]
subset: gard_rare {source="GARD:17232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254920"}
subset: orphanet_rare {source="Orphanet:254920"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 2" RELATED [MONDO:Lexical, OMIM:610498]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS16" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 2" EXACT [MONDORULE:1, OMIM:610498]
synonym: "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis" RELATED [OMIM:610498]
synonym: "COXPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610498, Orphanet:254920]
synonym: "MRPS16 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111483 {source="MONDO:equivalentTo"}
xref: GARD:17232 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:254920", source="Orphanet:254920/attributed", source="Orphanet:254920/ntbt"}
xref: MEDGEN:400626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566468 {source="MONDO:equivalentTo"}
xref: OMIM:610498 {source="MONDO:equivalentTo", source="Orphanet:254920", source="Orphanet:254920/e"}
xref: Orphanet:254920 {source="OMIM:610498", source="MONDO:equivalentTo"}
xref: SCTID:764943000 {source="MONDO:equivalentTo"}
xref: UMLS:C1864843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400626"}
is_a: MONDO:0000732 {source="DC-OMIM:610498", source="MONDO:Redundant", source="OMIM:610498"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14048 ! MRPS16
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14048 {source="MONDO:mim2gene_medgen"} ! MRPS16

[Term]
id: MONDO:0012511
name: preterm premature rupture of the membranes
def: "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." [DOID:0111144]
subset: otar {source="MONDO:OTAR"}
synonym: "PPROM" EXACT ABBREVIATION [DOID:0111144, MONDO:Lexical, OMIM:610504]
synonym: "preterm premature rupture of the membranes" EXACT [MONDO:Lexical, OMIM:610504]
synonym: "preterm premature rupture of the membranes, susceptibility to" EXACT [OMIM:610504, OMIM:genemap2]
xref: DOID:0111144 {source="MONDO:equivalentTo"}
xref: MEDGEN:147582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563032 {source="MONDO:equivalentTo"}
xref: NCIT:C92862 {source="MONDO:equivalentTo"}
xref: OMIM:610504 {source="MONDO:equivalentTo", source="DOID:0111144"}
xref: SCTID:312974005 {source="MONDO:equivalentTo"}
xref: UMLS:C0729264 {source="MEDGEN:147582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:0111144"} ! female reproductive system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1546 {source="MONDO:mim2gene_medgen"} ! SERPINH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012512
name: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
def: "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." [Orphanet:168566]
subset: gard_rare {source="GARD:17035", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168566"}
subset: orphanet_rare {source="Orphanet:168566"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 3" RELATED [MONDO:Lexical, OMIM:610505]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TSFM" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 3" EXACT [MONDORULE:1, OMIM:610505]
synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" RELATED [OMIM:610505]
synonym: "COXPD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610505]
synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" RELATED [OMIM:610505]
synonym: "fatal mitochondrial disease due to COXPD3" EXACT [Orphanet:168566]
synonym: "TSFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111486 {source="MONDO:equivalentTo"}
xref: GARD:17035 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:168566/attributed", source="Orphanet:168566/ntbt", source="Orphanet:168566"}
xref: MEDGEN:355842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566467 {source="MONDO:equivalentTo"}
xref: OMIM:610505 {source="Orphanet:168566", source="MONDO:equivalentTo", source="Orphanet:168566/e"}
xref: Orphanet:168566 {source="MONDO:equivalentTo", source="OMIM:610505"}
xref: SCTID:720951008 {source="MONDO:equivalentTo"}
xref: UMLS:C1864840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355842"}
is_a: MONDO:0000732 {source="DC-OMIM:610505", source="MONDO:Redundant", source="OMIM:610505"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12367 ! TSFM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12367 {source="MONDO:mim2gene_medgen"} ! TSFM

[Term]
id: MONDO:0012513
name: maturity-onset diabetes of the young type 7
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diabetes mellitus MODY type 7" RELATED [GARD:0010661]
synonym: "KLF11 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in KLF11" EXACT []
synonym: "maturity-onset diabetes of the young, type 7" RELATED [MONDO:Lexical, OMIM:610508]
synonym: "maturity-onset diabetes of the young, type VII" EXACT [OMIM:610508, OMIM:genemap2]
synonym: "MODY KLF11 related" RELATED [GARD:0010661]
synonym: "MODY type 7" RELATED [GARD:0010661]
synonym: "MODY7" EXACT ABBREVIATION [DOID:0111106, MONDO:Lexical, OMIM:610508]
synonym: "type 7 maturity-onset diabetes of the young" RELATED [GARD:0010661]
xref: DOID:0111106 {source="MONDO:equivalentTo"}
xref: GARD:10661 {source="MONDO:GARD"}
xref: MEDGEN:351232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566466 {source="MONDO:equivalentTo"}
xref: OMIM:610508 {source="DOID:0111106", source="MONDO:equivalentTo"}
xref: Orphanet:552 {source="OMIM:610508"}
xref: SCTID:609574004 {source="MONDO:equivalentTo"}
xref: UMLS:C1864839 {source="MEDGEN:351232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018911 {source="DC-OMIM:610508", source="DOID:0111106", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11811 ! KLF11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11811 {source="MONDO:mim2gene_medgen"} ! KLF11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7" xsd:anyURI {source="GARD:0010661"}

[Term]
id: MONDO:0012514
name: hypomyelinating leukodystrophy 5
def: "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit." [Orphanet:85163]
subset: gard_rare {source="GARD:11980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85163"}
subset: ordo_malformation_syndrome {source="Orphanet:85163"}
subset: orphanet_rare {source="Orphanet:85163"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FAM126A leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HLD5" EXACT ABBREVIATION [DOID:0060793, MONDO:Lexical, OMIM:610532]
synonym: "hypomyelinating leukodystrophy type 5" EXACT [DOID:0060793, MONDORULE:1]
synonym: "hypomyelination - congenital cataract" RELATED [GARD:0011980]
synonym: "hypomyelination and congenital cataract" RELATED [GARD:0011980]
synonym: "hypomyelination and congenital cataract: HCC" RELATED [OMIM:610532]
synonym: "hypomyelination-congenital cataract syndrome" EXACT [DOID:0060793]
synonym: "leukodystrophy caused by mutation in FAM126A" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 5" RELATED [MONDO:Lexical, OMIM:610532]
synonym: "leukodystrophy, hypomyelinating, type 5" EXACT [MONDORULE:1, OMIM:610532]
xref: DOID:0060793 {source="MONDO:equivalentTo"}
xref: GARD:11980 {source="MONDO:GARD"}
xref: ICD10CM:G37.8 {source="DOID:0060793", source="Orphanet:85163/attributed", source="Orphanet:85163/ntbt", source="Orphanet:85163"}
xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:501134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567166 {source="MONDO:equivalentTo"}
xref: NANDO:1200584 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201296 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:610532 {source="Orphanet:85163/e", source="DOID:0060793", source="MONDO:equivalentTo", source="Orphanet:85163"}
xref: Orphanet:85163 {source="DOID:0060793", source="MONDO:equivalentTo", source="OMIM:610532"}
xref: SCTID:702379005 {source="MONDO:equivalentTo"}
xref: UMLS:C1864663 {source="MEDGEN:501134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="DOID:0060793", source="DOID:0060793/inferred", source="MONDO:Redundant", source="OMIM:610532", source="Orphanet:85163"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24587 ! HYCC1
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:85163", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24587 {source="MONDO:mim2gene_medgen"} ! HYCC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012515
name: glaucoma 1, open angle, M
subset: gard_rare {source="GARD:18230", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 1, open angle, M" EXACT [MONDO:Lexical, OMIM:610535]
synonym: "GLC1M" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610535]
synonym: "JOAG1M" EXACT ABBREVIATION []
xref: GARD:18230 {source="MONDO:GARD"}
xref: MEDGEN:400584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566436 {source="MONDO:equivalentTo"}
xref: OMIM:610535 {source="MONDO:equivalentTo"}
xref: Orphanet:98977 {source="OMIM:610535"}
xref: UMLS:C1864653 {source="MEDGEN:400584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma

[Term]
id: MONDO:0012516
name: mandibulofacial dysostosis-microcephaly syndrome
def: "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." [Orphanet:79113]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79113"}
subset: ordo_malformation_syndrome {source="Orphanet:79113"}
subset: orphanet_rare {source="Orphanet:79113"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED [OMIM:610536]
synonym: "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED DEPRECATED [OMIM:610536]
synonym: "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate" RELATED [GARD:0010056]
synonym: "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome" RELATED [GARD:0010056]
synonym: "mandibulofacial dysostosis with microcephaly" EXACT [DOID:0080196, OMIM:610536]
synonym: "mandibulofacial dysostosis, Guion-Almeida type" EXACT [MONDO:Lexical, OMIM:610536, Orphanet:79113]
synonym: "mandibulofacial dysostosis-microcephaly syndrome" EXACT CLINGEN_LABEL []
synonym: "MFDGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610536]
synonym: "MFDM" RELATED ABBREVIATION [GARD:0010056]
synonym: "MFDM syndrome" EXACT [Orphanet:79113]
xref: DOID:0080196 {source="MONDO:equivalentTo"}
xref: GARD:10056 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:79113/attributed", source="Orphanet:79113/ntbt", source="Orphanet:79113"}
xref: MEDGEN:355264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537405 {source="MONDO:equivalentTo"}
xref: OMIM:610536 {source="DOID:0080196", source="Orphanet:79113/e", source="MONDO:equivalentTo", source="Orphanet:79113"}
xref: Orphanet:79113 {source="MONDO:equivalentTo", source="OMIM:610536"}
xref: SCTID:711543008 {source="MONDO:equivalentTo"}
xref: UMLS:C1864652 {source="MEDGEN:355264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0080196", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015159 {source="Orphanet:79113"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018237 {source="Orphanet:79113"} ! acrofacial dysostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:79113", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610536", source="Orphanet:79113"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30858 {source="MONDO:mim2gene_medgen"} ! EFTUD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012517
name: Gaucher disease due to saposin C deficiency
def: "Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309252"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT [Orphanet:309252]
synonym: "atypical Gaucher's disease due to saposin c deficiency" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Gaucher disease caused by mutation in PSAP" EXACT [MONDO:design_pattern]
synonym: "Gaucher disease, atypical" RELATED [GARD:0012503]
synonym: "Gaucher disease, atypical, due to saposin C deficiency" RELATED [OMIM:610539]
synonym: "PSAP Gaucher disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110961 {source="MONDO:equivalentTo"}
xref: GARD:12503 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:309252/attributed", source="Orphanet:309252/ntbt", source="Orphanet:309252", source="DOID:0110961"}
xref: MEDGEN:350479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566435 {source="MONDO:equivalentTo"}
xref: OMIM:610539 {source="Orphanet:309252", source="MONDO:equivalentTo", source="Orphanet:309252/e", source="DOID:0110961"}
xref: Orphanet:309252 {source="MONDO:equivalentTo", source="OMIM:610539", source="DOID:0110961"}
xref: Orphanet:355 {source="OMIM:610539"}
xref: UMLS:C1864651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350479"}
is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis
relationship: excluded_subClassOf MONDO:0018150 {source="DC-OMIM:610539", source="DOID:0110961", source="MESH:C566435", source="Orphanet:309252", source="https://orcid.org/0000-0001-5208-3432"} ! Gaucher disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 {source="MONDO:mim2gene_medgen"} ! PSAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI

[Term]
id: MONDO:0012518
name: congenital myasthenic syndrome 12
def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene." [MONDO:patterns/disease_series_by_gene]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:18451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS12" EXACT ABBREVIATION [DOID:0110660, MONDO:Lexical, OMIM:610542]
synonym: "congenital myasthenia 12 with tubular aggregates" EXACT [DOID:0110660]
synonym: "congenital myasthenic syndrome type 12" EXACT [DOID:0110660, MONDORULE:2]
synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1" EXACT [MONDO:design_pattern]
synonym: "GFPT1 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myasthenia, congenital, 12, with tubular aggregates" EXACT [OMIM:610542, OMIM:genemap2]
synonym: "myasthenic syndrome, congenital, 12" RELATED [MONDO:Lexical, OMIM:610542]
synonym: "myasthenic syndrome, congenital, type 12" EXACT [MONDORULE:2, OMIM:610542]
synonym: "myasthenic syndrome, congenital, with tubular aggregates 1" RELATED [OMIM:610542]
xref: DOID:0110660 {source="MONDO:equivalentTo"}
xref: GARD:18451 {source="MONDO:GARD"}
xref: MEDGEN:765249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168997 {source="MONDO:equivalentTo"}
xref: OMIM:610542 {source="MONDO:equivalentTo", source="DOID:0110660"}
xref: Orphanet:353327 {source="OMIM:610542"}
xref: Orphanet:590 {source="OMIM:610542"}
xref: UMLS:C3552335 {source="MONDO:equivalentTo", source="MEDGEN:765249", source="MONDO:MEDGEN"}
is_a: MONDO:0000182 {source="DC-OMIM:610542", source="OMIM:610542"} ! congenital myasthenic syndrome with tubular aggregates
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4241 {source="MONDO:mim2gene_medgen"} ! GFPT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI

[Term]
id: MONDO:0012519
name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
def: "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders." [GARD:0010754]
subset: gard_rare {source="GARD:10754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:353281"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "16p13.3 deletion syndrome" RELATED [GARD:0010754]
synonym: "chromosome 16p13.3 deletion syndrome" RELATED [OMIM:610543, OMIM:genemap2]
synonym: "chromosome 16p13.3 deletion syndrome, proximal" RELATED [OMIM:610543]
synonym: "Rsts deletion syndrome" RELATED [OMIM:610543]
synonym: "Rubinstein-Taybi deletion syndrome" RELATED [OMIM:610543]
xref: GARD:10754 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:353281/attributed", source="Orphanet:353281/ntbt", source="Orphanet:353281"}
xref: MEDGEN:350477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610543 {source="Orphanet:353281/e", source="MONDO:equivalentTo", source="GARD:0010754", source="Orphanet:353281"}
xref: Orphanet:353281 {source="MONDO:equivalentTo", source="OMIM:610543"}
xref: Orphanet:783 {source="OMIM:610543"}
xref: UMLS:C1864648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350477"}
is_a: MONDO:0000761 {source="DC-OMIM:610543"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016894 {source="Orphanet:353281", source="Orphanet:353281/inferred"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019188 {source="DC-OMIM:610543", source="OMIM:610543", source="Orphanet:353281"} ! Rubinstein-Taybi syndrome
relationship: disease_arises_from_structure CHR:9606-chr16p13.3 {source="https://orcid.org/0000-0002-4142-7153"} ! 16p13.3 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome" xsd:anyURI {source="GARD:0010754"}

[Term]
id: MONDO:0012520
name: insulin-resistance syndrome type A
def: "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." [Orphanet:2297]
subset: gard_rare {source="GARD:3008", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2297"}
subset: orphanet_rare {source="Orphanet:2297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans" RELATED [OMIM:610549]
synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a" RELATED [OMIM:610549]
synonym: "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans" RELATED [OMIM:610549]
synonym: "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" EXACT [NCIT:C131836]
synonym: "insulin-resistant acanthosis nigricans, type A" RELATED [GARD:0003008]
synonym: "Iran, type a" RELATED [OMIM:610549]
synonym: "type A insulin resistance syndrome" EXACT [NCIT:C131836]
xref: GARD:3008 {source="MONDO:GARD"}
xref: ICD10CM:E13 {source="Orphanet:2297", source="Orphanet:2297/attributed", source="Orphanet:2297/ntbt"}
xref: MEDGEN:501111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562710 {source="MONDO:equivalentTo"}
xref: NCIT:C131836 {source="MONDO:equivalentTo"}
xref: OMIM:610549 {source="Orphanet:2297", source="MONDO:equivalentTo", source="Orphanet:2297/e"}
xref: Orphanet:2297 {source="MONDO:equivalentTo", source="OMIM:610549"}
xref: UMLS:C0342278 {source="MEDGEN:501111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001933 {source="MONDO:Redundant", source="NCIT:C131836"} ! endocrine pancreas disorder
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6091 {source="MONDO:mim2gene_medgen"} ! INSR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0012521
name: herpes simplex encephalitis
def: "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." [Orphanet:1930]
subset: gard_rare {source="GARD:6649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1087"}
subset: ordo_disorder {source="Orphanet:1930"}
subset: orphanet_rare {source="Orphanet:1930"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Encephalitis, Herpes Simplex" EXACT [NORD:1087]
synonym: "Herpes simplex meningo-encephalitis" EXACT [Orphanet:1930]
synonym: "Herpes simplex neuroinvasion" EXACT [Orphanet:1930]
synonym: "Herpes simplex virus encephalitis" RELATED [Orphanet:1930]
synonym: "herpetic encephalitis" EXACT [Orphanet:1930]
synonym: "HSE" EXACT ABBREVIATION [Orphanet:1930]
synonym: "HSV encephalitis" EXACT [Orphanet:1930]
synonym: "HSVE" EXACT ABBREVIATION [Orphanet:1930]
synonym: "Simplexvirus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus infectious encephalitis" EXACT []
xref: GARD:6649 {source="MONDO:GARD"}
xref: ICD10EXP:B00.4+ {source="Orphanet:1930", source="Orphanet:1930/specific", source="Orphanet:1930/e"}
xref: ICD10EXP:G05.1* {source="Orphanet:1930", source="Orphanet:1930/specific", source="Orphanet:1930/e"}
xref: icd11.foundation:320069644 {source="MONDO:equivalentTo", source="Orphanet:1930", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:75794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020803 {source="MONDO:equivalentTo"}
xref: NANDO:2200772 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84762 {source="MONDO:equivalentTo"}
xref: NORD:1087 {source="MONDO:NORD"}
xref: Orphanet:1930 {source="OMIM:610551", source="MONDO:equivalentTo"}
xref: UMLS:C0276226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75794"}
is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C84762", source="Orphanet:1930"} ! viral encephalitis
is_a: MONDO:0020067 {source="MESH:D020803/inferred", source="MONDO:Redundant", source="NCIT:C84762/inferred", source="Orphanet:1930"} ! infectious encephalitis
intersection_of: MONDO:0020067 ! infectious encephalitis
intersection_of: MONDO:0100332 NCBITaxon:10294 ! disease has primary infectious agent Simplexvirus
relationship: excluded_subClassOf MONDO:0015659 {source="Orphanet:1930", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete infectious disease with epilepsy
relationship: excluded_subClassOf MONDO:0015979 {source="Orphanet:1930", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary predisposition to infections
relationship: excluded_subClassOf MONDO:0020141 {source="Orphanet:1930", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete infectious disease with dementia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis" xsd:anyURI {source="GARD:0006649"}

[Term]
id: MONDO:0012522
name: diabetes mellitus, transient neonatal, 3
def: "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15490", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diabetes mellitus, transient neonatal 3" EXACT [OMIM:610582, OMIM:genemap2]
synonym: "diabetes mellitus, transient neonatal, 3" EXACT [OMIM:610582]
synonym: "diabetes mellitus, transient neonatal, type 3" EXACT [MONDORULE:1, OMIM:610582]
synonym: "diabetes mellitus, type II, autosomal dominant" RELATED [OMIM:610582]
synonym: "KCNJ11 transient neonatal diabetes mellitus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Tndm3" RELATED [OMIM:610582]
synonym: "transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11" EXACT []
xref: GARD:15490 {source="MONDO:GARD"}
xref: MEDGEN:351177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566432 {source="MONDO:equivalentTo"}
xref: OMIM:610582 {source="MONDO:equivalentTo"}
xref: Orphanet:99886 {source="OMIM:610582"}
xref: SCTID:609581006 {source="MONDO:equivalentTo"}
xref: UMLS:C1864623 {source="MEDGEN:351177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020525 {source="DC-OMIM:610582", source="MONDO:Redundant"} ! transient neonatal diabetes mellitus
intersection_of: MONDO:0020525 ! transient neonatal diabetes mellitus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 ! KCNJ11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 {source="MONDO:mim2gene_medgen"} ! KCNJ11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012523
name: retinitis pigmentosa 36
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10403", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PRCD retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 36" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610599]
synonym: "retinitis pigmentosa caused by mutation in PRCD" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 36" EXACT [DOID:0110405, MONDORULE:2, OMIM:610599]
synonym: "RP 36" RELATED [GARD:0010403]
synonym: "RP36" EXACT ABBREVIATION [DOID:0110405, MONDO:Lexical, OMIM:610599]
xref: DOID:0110405 {source="MONDO:equivalentTo"}
xref: GARD:10403 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110405"}
xref: MEDGEN:351175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566431 {source="MONDO:equivalentTo"}
xref: OMIM:610599 {source="DOID:0110405", source="MONDO:equivalentTo"}
xref: UMLS:C1864621 {source="MEDGEN:351175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:610599", source="DOID:0110405", source="MESH:C566431", source="MONDO:Redundant", source="OMIM:610599"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32528 ! PRCD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32528 {source="MONDO:mim2gene_medgen"} ! PRCD
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10403/retinitis-pigmentosa-36" xsd:anyURI {source="GARD:0010403"}

[Term]
id: MONDO:0012524
name: corticosterone methyloxidase type 2 deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "18-oxidase deficiency" RELATED [OMIM:610600]
synonym: "aldosterone deficiency 2" RELATED [OMIM:610600]
synonym: "aldosterone deficiency due to deficiency of steroid 18-oxidase" RELATED [OMIM:610600]
synonym: "Cmo 2 deficiency" RELATED [OMIM:610600]
synonym: "corticosterone methyloxidase type II deficiency" RELATED [OMIM:610600]
synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [OMIM:610600]
synonym: "hypoaldosteronism, congenital, due to CMO II deficiency" EXACT [OMIM:610600, OMIM:genemap2]
synonym: "steroid 18-oxidase deficiency" RELATED [OMIM:610600]
xref: MEDGEN:483046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610600 {source="MONDO:equivalentTo"}
xref: Orphanet:427 {source="OMIM:610600"}
xref: Orphanet:99763 {source="OMIM:610600"}
xref: UMLS:C3463917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483046"}
is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypoaldosteronism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2592 {source="MONDO:mim2gene_medgen"} ! CYP11B2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6813" xsd:anyURI

[Term]
id: MONDO:0012525
name: Leber congenital amaurosis 12
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 12" RELATED [GARD:0010489]
synonym: "LCA12" EXACT ABBREVIATION [DOID:0110080, MONDO:Lexical, OMIM:610612]
synonym: "Leber congenital amaurosis 12" EXACT [MONDO:Lexical, OMIM:610612]
synonym: "Leber congenital amaurosis caused by mutation in RD3" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 12" EXACT [DOID:0110080, MONDORULE:2, OMIM:610612]
synonym: "RD3 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110080 {source="MONDO:equivalentTo"}
xref: GARD:10489 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110080", source="MONDO:relatedTo"}
xref: MEDGEN:347535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565697 {source="MONDO:equivalentTo"}
xref: OMIM:610612 {source="DOID:0110080", source="MONDO:equivalentTo"}
xref: UMLS:C1857743 {source="MONDO:equivalentTo", source="MEDGEN:347535", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:610612", source="DOID:0110080", source="MESH:C565697", source="MONDO:Redundant", source="OMIM:610612"} ! Leber congenital amaurosis
is_a: MONDO:0700235 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! RD3-related retinopathy
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19689 ! RD3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19689 {source="MONDO:mim2gene_medgen"} ! RD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12" xsd:anyURI {source="GARD:0010489"}

[Term]
id: MONDO:0012526
name: hereditary angioedema type 3
def: "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100054]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16935", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:100054"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100054"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioedema, hereditary, 3" EXACT [OMIM:610618, OMIM:genemap2]
synonym: "angioedema, hereditary, type 3" RELATED [OMIM:610618]
synonym: "angioedema, hereditary, type III" RELATED [MONDO:Lexical, OMIM:610618]
synonym: "angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function" RELATED [OMIM:610618]
synonym: "estrogen-related Hae" RELATED [OMIM:610618]
synonym: "estrogen-sensitive Hae" RELATED [OMIM:610618]
synonym: "F12 hereditary angioedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HAE 3" EXACT [Orphanet:100054]
synonym: "Hae 3" RELATED [OMIM:610618]
synonym: "Hae with normal C1 inhibitor concentration and function" RELATED [OMIM:610618]
synonym: "HAE-III" EXACT [Orphanet:100054]
synonym: "HAE3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610618]
synonym: "hereditary angioedema caused by mutation in F12" EXACT [MONDO:design_pattern]
synonym: "hereditary angioedema type 3" EXACT CLINGEN_LABEL []
synonym: "hereditary angioedema with normal C1 inhibitor activity" RELATED [OMIM:610618]
synonym: "hereditary angioneurotic edema type 3" EXACT [Orphanet:100054]
synonym: "hereditary angioneurotic oedema type 3" EXACT OMO:0003005 []
synonym: "inherited estrogen-associated angioedema" EXACT [Orphanet:100054]
synonym: "inherited estrogen-associated angioneurotic edema" EXACT [Orphanet:100054]
synonym: "inherited estrogen-associated angioneurotic oedema" EXACT OMO:0003005 []
synonym: "inherited estrogen-dependent angioedema" EXACT [Orphanet:100054]
synonym: "inherited estrogen-dependent angioneurotic edema" EXACT [Orphanet:100054]
synonym: "inherited estrogen-dependent angioneurotic oedema" EXACT OMO:0003005 []
xref: DOID:0080940 {source="MONDO:equivalentTo"}
xref: GARD:16935 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:100054", source="Orphanet:100054/attributed", source="Orphanet:100054/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:346653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056828 {source="Orphanet:100054", source="MONDO:equivalentTo", source="Orphanet:100054/e"}
xref: OMIM:610618 {source="Orphanet:100054", source="MONDO:equivalentTo", source="Orphanet:100054/e"}
xref: Orphanet:100054 {source="MONDO:equivalentTo", source="OMIM:610618"}
xref: Orphanet:91378 {source="OMIM:610618"}
xref: SCTID:427167008 {source="MONDO:equivalentTo"}
xref: UMLS:C1857728 {source="MEDGEN:346653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0019623 ! hereditary angioedema
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3530 ! F12
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3530 {source="MONDO:mim2gene_medgen"} ! F12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012527
name: cataract 11 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 11 with microphthalmia and neurodevelopmental abnormalities" RELATED [OMIM:610623]
synonym: "cataract 11, multiple types" RELATED [MONDO:Lexical, OMIM:610623]
synonym: "cataract 11, syndromic, autosomal recessive" EXACT [OMIM:610623, OMIM:genemap2]
synonym: "cataract, posterior polar, 4" RELATED [OMIM:610623]
synonym: "CPP4" NARROW ABBREVIATION [DOID:0110249]
synonym: "Cpp4" RELATED [OMIM:610623]
synonym: "CTPP4" NARROW ABBREVIATION [DOID:0110249]
synonym: "CTRCT11" EXACT ABBREVIATION [DOID:0110249, MONDO:Lexical, OMIM:610623]
synonym: "early-onset non-syndromic cataract caused by mutation in PITX3" EXACT [MONDO:design_pattern]
synonym: "PITX3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "posterior polar cataract 4" NARROW [DOID:0110249]
synonym: "Posterior polar cataract, 4" RELATED [GARD:0010228]
xref: DOID:0110249 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110249"}
xref: MEDGEN:351162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535344 {source="MONDO:equivalentTo"}
xref: OMIM:610623 {source="DOID:0110249", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:610623"}
xref: Orphanet:98993 {source="MONDO:relatedTo", source="OMIM:610623"}
xref: UMLS:C1864567 {source="MEDGEN:351162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110249", source="MESH:C535344", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:610623"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9006 ! PITX3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9006 {source="MONDO:mim2gene_medgen"} ! PITX3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012528
name: hypogonadotropic hypogonadism 4 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10772", source="MONDO:GARD"}
subset: rare
synonym: "HH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610628]
synonym: "hypogonadotropic hypogonadism 4 with or without anosmia" EXACT [MONDO:Lexical, OMIM:610628]
synonym: "hypogonadotropic hypogonadism caused by mutation in PROK2" EXACT [MONDO:design_pattern]
synonym: "KAL4" NARROW ABBREVIATION [GARD:0010772, https://github.com/monarch-initiative/mondo-build/issues/77]
synonym: "Kallman syndrome 4" NARROW [GARD:0010772, https://github.com/monarch-initiative/mondo-build/issues/77]
synonym: "Kallmann syndrome 4" RELATED [GARD:0010772]
synonym: "PROK2 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090077 {source="MONDO:equivalentTo"}
xref: GARD:10772 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090077"}
xref: MEDGEN:765257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565696 {source="MONDO:equivalentTo"}
xref: OMIM:610628 {source="DOID:0090077", source="GARD:0010772", source="MONDO:equivalentTo"}
xref: Orphanet:478 {source="OMIM:610628"}
xref: UMLS:C3552343 {source="MEDGEN:765257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090077", source="MONDO:0012528/inferred", source="MONDO:Redundant", source="OMIM:610628"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="MESH:C565696", source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18455 ! PROK2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18455 {source="MONDO:mim2gene_medgen"} ! PROK2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4" xsd:anyURI {source="GARD:0010772"}

[Term]
id: MONDO:0012529
name: Diamond-Blackfan anemia 3
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10241", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anaemia Diamond-Blackfan 3" RELATED OMO:0003005 []
synonym: "anemia Diamond-Blackfan 3" RELATED [GARD:0010241]
synonym: "DBA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610629]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPS24" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 3" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610629]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS24" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 3" EXACT [MONDORULE:1, OMIM:610629]
synonym: "RPS24 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPS24 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111887 {source="MONDO:equivalentTo"}
xref: GARD:10241 {source="MONDO:GARD"}
xref: MEDGEN:387892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536355 {source="MONDO:equivalentTo"}
xref: NCIT:C176912 {source="MONDO:equivalentTo"}
xref: OMIM:610629 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:610629"}
xref: UMLS:C1857719 {source="MEDGEN:387892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="DC-OMIM:610629", source="MESH:C536355", source="MONDO:Redundant", source="OMIM:610629"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10411 ! RPS24
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10411 {source="MONDO:mim2gene_medgen"} ! RPS24
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3" xsd:anyURI {source="GARD:0010241"}

[Term]
id: MONDO:0012530
name: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
def: "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown." [Orphanet:85112]
subset: gard_rare {source="GARD:16733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85112"}
subset: orphanet_rare {source="Orphanet:85112"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "palmoplantar hyperkeratosis and true hermaphroditism" RELATED [OMIM:610644]
synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal" RELATED [OMIM:610644]
synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" EXACT [OMIM:610644, OMIM:genemap2]
synonym: "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome" EXACT [Orphanet:85112]
xref: GARD:16733 {source="MONDO:GARD"}
xref: ICD10CM:Q56.0 {source="Orphanet:85112", source="Orphanet:85112/attributed", source="Orphanet:85112/ntbt"}
xref: MEDGEN:461281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567165 {source="MONDO:equivalentTo"}
xref: OMIM:610644 {source="Orphanet:85112", source="MONDO:equivalentTo", source="Orphanet:85112/e"}
xref: Orphanet:85112 {source="MONDO:equivalentTo", source="OMIM:610644"}
xref: UMLS:C3149931 {source="MEDGEN:461281", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017576 {source="Orphanet:85112"} ! 46,XX disorder of sex development
is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610644", source="Orphanet:85112"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21679 {source="MONDO:mim2gene_medgen"} ! RSPO1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012531
name: xeroderma pigmentosum group B
def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ERCC3 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xeroderma pigmentosum B/Cockayne syndrome" RELATED [OMIM:610651]
synonym: "xeroderma pigmentosum caused by mutation in ERCC3" EXACT [MONDO:design_pattern]
synonym: "xeroderma pigmentosum group B" EXACT CLINGEN_LABEL []
synonym: "xeroderma pigmentosum group type B" EXACT [DOID:0110850, MONDORULE:1]
synonym: "xeroderma pigmentosum, complementation group B" RELATED [MONDO:Lexical, OMIM:610651]
synonym: "xeroderma pigmentosum, complementation group type B" EXACT [MONDORULE:1, OMIM:610651]
synonym: "xeroderma pigmentosum, group B" EXACT [OMIM:610651, OMIM:genemap2]
synonym: "xeroderma pigmentosum, type 2" RELATED [GARD:0005625]
synonym: "XP group B" EXACT [DOID:0110850]
synonym: "XP, Group B" EXACT [OMIM:610651]
synonym: "XP-B" EXACT [NCIT:C3966]
synonym: "XPB" EXACT ABBREVIATION [DOID:0110850, MONDO:Lexical, OMIM:610651]
synonym: "XPB/CS" RELATED [OMIM:610651]
synonym: "XPBC" EXACT ABBREVIATION [DOID:0110850]
xref: DOID:0110850 {source="MONDO:equivalentTo"}
xref: GARD:5625 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="DOID:0110850"}
xref: MEDGEN:78643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562590 {source="MONDO:equivalentTo"}
xref: NCIT:C3966 {source="MONDO:equivalentTo"}
xref: OMIM:610651 {source="MONDO:equivalentTo", source="DOID:0110850"}
xref: Orphanet:220295 {source="OMIM:610651"}
xref: Orphanet:276252 {source="MONDO:equivalentObsolete", source="OMIM:610651"}
xref: Orphanet:910 {source="OMIM:610651"}
xref: SCTID:1073003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78643"}
is_a: MONDO:0016354 {source="Orphanet:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex
is_a: MONDO:0019600 {source="DC-OMIM:610651", source="DOID:0110850", source="MESH:C562590", source="MONDO:Redundant", source="NCIT:C3966"} ! xeroderma pigmentosum
intersection_of: MONDO:0019600 ! xeroderma pigmentosum
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 ! ERCC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 {source="MONDO:mim2gene_medgen"} ! ERCC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012532
name: hereditary hemorrhagic telangiectasia type 4
subset: gard_rare {source="GARD:10615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HHT4" RELATED ABBREVIATION [GARD:0010615, MONDO:Lexical, OMIM:610655]
synonym: "telangiectasia, hereditary hemorrhagic, type 4" RELATED [MONDO:Lexical, OMIM:610655]
xref: GARD:10615 {source="MONDO:GARD"}
xref: MEDGEN:341824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565691 {source="MONDO:equivalentTo"}
xref: OMIM:610655 {source="MONDO:equivalentTo", source="GARD:0010615"}
xref: Orphanet:774 {source="OMIM:610655", source="GARD:0010615"}
xref: UMLS:C1857688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341824"}
is_a: MONDO:0019180 {source="DC-OMIM:610655", source="MESH:C565691", source="OMIM:610655"} ! hereditary hemorrhagic telangiectasia
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610655"} ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10615/hereditary-hemorrhagic-telangiectasia-type-4" xsd:anyURI {source="GARD:0010615"}

[Term]
id: MONDO:0012533
name: autism, susceptibility to, 7
subset: predisposition
synonym: "autism susceptibility 7" EXACT [OMIM:610676, OMIM:genemap2]
synonym: "autism, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:610676]
synonym: "AUTS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610676]
xref: MEDGEN:410155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610676 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:610676"}
xref: UMLS:C1970807 {source="MEDGEN:410155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012534
name: combined oxidative phosphorylation defect type 4
def: "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy." [Orphanet:254925]
subset: gard_rare {source="GARD:17233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254925"}
subset: orphanet_rare {source="Orphanet:254925"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation defect type 4" EXACT CLINGEN_LABEL []
synonym: "combined oxidative phosphorylation deficiency 4" RELATED [MONDO:Lexical, OMIM:610678]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TUFM" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 4" EXACT [MONDORULE:1, OMIM:610678]
synonym: "COXPD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610678, Orphanet:254925]
synonym: "TUFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111494 {source="MONDO:equivalentTo"}
xref: GARD:17233 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:254925/attributed", source="Orphanet:254925/ntbt", source="Orphanet:254925"}
xref: MEDGEN:387884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565690 {source="MONDO:equivalentTo"}
xref: OMIM:610678 {source="Orphanet:254925/e", source="MONDO:equivalentTo", source="Orphanet:254925"}
xref: Orphanet:254925 {source="MONDO:equivalentTo", source="OMIM:610678"}
xref: SCTID:766876004 {source="MONDO:equivalentTo"}
xref: UMLS:C1857682 {source="MEDGEN:387884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:610678", source="MONDO:Redundant", source="OMIM:610678"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12420 ! TUFM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12420 {source="MONDO:mim2gene_medgen"} ! TUFM

[Term]
id: MONDO:0012535
name: holoprosencephaly, recurrent infections, and monocytosis
synonym: "holoprosencephaly, recurrent infections, and monocytosis" EXACT [OMIM:610680]
xref: MEDGEN:343987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538328 {source="MONDO:equivalentTo"}
xref: OMIM:610680 {source="MONDO:equivalentTo"}
xref: UMLS:C1853187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343987"}
is_a: MONDO:0003847 {source="MESH:C538328/inferred"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10055/holoprosencephaly-recurrent-infections-and-monocytosis" xsd:anyURI {source="GARD:0010055"}

[Term]
id: MONDO:0012536
name: osteogenesis imperfecta type 7
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:8701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CRTAP osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OI type 7" RELATED [GARD:0008701]
synonym: "OI type VII" RELATED [GARD:0008701]
synonym: "OI, type 7" RELATED [OMIM:610682]
synonym: "OI7" EXACT ABBREVIATION [DOID:0110337, MONDO:Lexical, OMIM:610682]
synonym: "osteogenesis imperfecta caused by mutation in CRTAP" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type 7" EXACT CLINGEN_LABEL []
synonym: "osteogenesis imperfecta type VII" EXACT [DOID:0110337]
synonym: "osteogenesis imperfecta, type 7" RELATED [OMIM:610682]
synonym: "osteogenesis imperfecta, type IIb" RELATED [OMIM:610682]
synonym: "osteogenesis imperfecta, type IIb, formerly" RELATED [OMIM:610682]
synonym: "osteogenesis imperfecta, type VII" RELATED [MONDO:Lexical, OMIM:610682]
xref: DOID:0110337 {source="MONDO:equivalentTo"}
xref: GARD:8701 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110337"}
xref: MEDGEN:343981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610682 {source="DOID:0110337", source="MONDO:equivalentTo"}
xref: Orphanet:216804 {source="OMIM:610682", source="MONDO:directSiblingOf"}
xref: Orphanet:216812 {source="OMIM:610682", source="MONDO:directSiblingOf"}
xref: Orphanet:216820 {source="OMIM:610682", source="MONDO:directSiblingOf"}
xref: SCTID:254111008 {source="MONDO:equivalentTo"}
xref: UMLS:C1853162 {source="MEDGEN:343981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:610682", source="DOID:0110337", source="MONDO:Redundant", source="OMIM:610682"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2379 ! CRTAP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2379 {source="MONDO:mim2gene_medgen"} ! CRTAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012537
name: split-hand/foot malformation with long bone deficiency 2
subset: gard_rare {source="GARD:15492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SHFLD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610685]
synonym: "split-hand/foot malformation with long bone deficiency 2" EXACT [MONDO:Lexical, OMIM:610685]
xref: GARD:15492 {source="MONDO:GARD"}
xref: MEDGEN:377841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565199 {source="MONDO:equivalentTo"}
xref: OMIM:610685 {source="MONDO:equivalentTo"}
xref: Orphanet:3329 {source="OMIM:610685"}
xref: UMLS:C1853156 {source="MEDGEN:377841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018050 {source="Orphanet:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome

[Term]
id: MONDO:0012538
name: nemaline myopathy 7
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15493", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CFL2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM7" EXACT ABBREVIATION [DOID:0110934, MONDO:Lexical, OMIM:610687]
synonym: "nemaline myopathy 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610687]
synonym: "nemaline myopathy 7, autosomal recessive" EXACT [DOID:0110934]
synonym: "nemaline myopathy caused by mutation in CFL2" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 7" EXACT [DOID:0110934, MONDORULE:1, OMIM:610687]
xref: DOID:0110934 {source="MONDO:equivalentTo"}
xref: GARD:15493 {source="MONDO:GARD"}
xref: MEDGEN:343979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565198 {source="MONDO:equivalentTo"}
xref: OMIM:610687 {source="DOID:0110934", source="MONDO:equivalentTo"}
xref: Orphanet:607 {source="OMIM:610687"}
xref: UMLS:C1853154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343979"}
is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110934", source="MESH:C565198", source="MONDO:Redundant", source="OMIM:610687"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1875 ! CFL2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1875 {source="MONDO:mim2gene_medgen"} ! CFL2

[Term]
id: MONDO:0012539
name: Joubert syndrome 6
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS6" EXACT ABBREVIATION [DOID:0111001, MONDO:Lexical, OMIM:610688]
synonym: "Joubert syndrome 6" EXACT [MONDO:Lexical, OMIM:610688]
synonym: "Joubert syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 6" EXACT [DOID:0111001, MONDORULE:1, OMIM:610688]
synonym: "TMEM67 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111001 {source="MONDO:equivalentTo"}
xref: GARD:15494 {source="MONDO:GARD"}
xref: MEDGEN:342805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537689 {source="MONDO:equivalentTo"}
xref: OMIM:610688 {source="MONDO:equivalentTo", source="DOID:0111001"}
xref: Orphanet:475 {source="OMIM:610688"}
xref: UMLS:C1853153 {source="MEDGEN:342805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DC-OMIM:610688", source="DOID:0111001", source="MONDO:Redundant", source="OMIM:610688"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 ! TMEM67
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 {source="MONDO:mim2gene_medgen"} ! TMEM67

[Term]
id: MONDO:0012540
name: age related macular degeneration 4
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 4" EXACT [DOID:0110017, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in CFH" EXACT [MONDO:design_pattern]
synonym: "ARMD4" EXACT ABBREVIATION [DOID:0110017, MONDO:Lexical, OMIM:610698]
synonym: "CFH age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 4" RELATED [MONDO:Lexical, OMIM:610698]
synonym: "macular Degeneration, age-related, type 4" EXACT [MONDORULE:1, OMIM:610698]
xref: DOID:0110017 {source="MONDO:equivalentTo"}
xref: MEDGEN:339914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565196 {source="MONDO:equivalentTo"}
xref: OMIM:610698 {source="DOID:0110017", source="MONDO:equivalentTo"}
xref: UMLS:C1853147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339914"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:610698", source="DOID:0110017", source="MONDO:Redundant", source="OMIM:610698"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 ! CFH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 {source="MONDO:mim2gene_medgen"} ! CFH

[Term]
id: MONDO:0012541
name: deafness with labyrinthine aplasia, microtia, and microdontia
def: "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." [Orphanet:90024]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90024"}
subset: ordo_malformation_syndrome {source="Orphanet:90024"}
subset: orphanet_rare {source="Orphanet:90024"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital deafness with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707]
synonym: "deafness congenital with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707]
synonym: "deafness with labyrinthine aplasia microtia and microdontia (LAMM)" RELATED [GARD:0010707]
synonym: "deafness with labyrinthine aplasia, microtia, and microdontia" EXACT CLINGEN_LABEL []
synonym: "deafness with Lamm" RELATED [OMIM:610706]
synonym: "deafness, congenital with inner ear agenesis, microtia, and microdontia" EXACT [OMIM:610706, OMIM:genemap2]
synonym: "deafness, congenital, with inner EAR agenesis, microtia, and microdontia" RELATED [OMIM:610706]
synonym: "deafness, congenital, with labyrinthine aplasia, microtia, and microdontia" RELATED [OMIM:610706]
synonym: "LAMM syndrome" EXACT [Orphanet:90024]
synonym: "microdontia-type I microtia-deafness syndrome" EXACT [Orphanet:90024]
xref: GARD:10707 {source="MONDO:GARD"}
xref: ICD10CM:Q16.5 {source="Orphanet:90024", source="Orphanet:90024/attributed", source="Orphanet:90024/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:342803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548011 {source="Orphanet:90024", source="Orphanet:90024/e"}
xref: MESH:C565195 {source="MONDO:equivalentTo"}
xref: OMIM:610706 {source="MONDO:equivalentTo", source="Orphanet:90024", source="Orphanet:90024/e"}
xref: Orphanet:90024 {source="MONDO:equivalentTo", source="OMIM:610706"}
xref: SCTID:702360007 {source="MONDO:equivalentTo"}
xref: UMLS:C1853144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342803"}
is_a: MONDO:0003847 {source="Orphanet:90024/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3681 {source="MONDO:mim2gene_medgen"} ! FGF3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012542
name: psoriasis 8, susceptibility to
synonym: "psoriasis 8, susceptibility to" EXACT [MONDO:Lexical, OMIM:610707]
synonym: "psoriasis susceptibility 8" EXACT [OMIM:610707, OMIM:genemap2]
synonym: "PSORS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610707]
xref: DOID:0111288 {source="MONDO:equivalentTo"}
xref: MEDGEN:377839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610707 {source="MONDO:equivalentTo"}
xref: UMLS:C1853143 {source="MEDGEN:377839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:610707"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:610707", source="OMIM:610707"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012543
name: optic atrophy 5
subset: gard_rare {source="GARD:10201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OPA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610708]
synonym: "optic atrophy 5" EXACT [MONDO:Lexical, OMIM:610708]
xref: DOID:0111438 {source="MONDO:equivalentTo"}
xref: GARD:10201 {source="MONDO:GARD"}
xref: MEDGEN:377837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537126 {source="MONDO:equivalentTo"}
xref: OMIM:610708 {source="MONDO:equivalentTo"}
xref: Orphanet:98673 {source="OMIM:610708"}
xref: UMLS:C1853139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377837"}
is_a: MONDO:0043878 {source="MESH:C537126/inferred", source="MONDO:Redundant", source="OMIM:610708"} ! hereditary optic atrophy
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610708"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2973 {source="MONDO:mim2gene_medgen"} ! DNM1L

[Term]
id: MONDO:0012544
name: brachydactyly-syndactyly syndrome
def: "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." [Orphanet:93409]
subset: gard_rare {source="GARD:16821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93409"}
subset: ordo_malformation_syndrome {source="Orphanet:93409"}
subset: orphanet_rare {source="Orphanet:93409"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDSD" RELATED ABBREVIATION [OMIM:610713]
synonym: "Bdsd" RELATED [OMIM:610713]
synonym: "brachydactyly-syndactyly syndrome" EXACT [OMIM:610713]
synonym: "brachydactyly-syndactyly, Zhao type" RELATED [Orphanet:93409]
synonym: "brachydactyly-syndactyly-oligodactyly syndrome" RELATED [OMIM:610713]
xref: DOID:0050689 {source="MONDO:equivalentTo"}
xref: GARD:16821 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:93409/attributed", source="Orphanet:93409/ntbt", source="Orphanet:93409"}
xref: MEDGEN:377836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565193 {source="MONDO:equivalentTo"}
xref: OMIM:610713 {source="Orphanet:93409/e", source="DOID:0050689", source="MONDO:equivalentTo", source="Orphanet:93409"}
xref: Orphanet:93409 {source="MONDO:equivalentTo", source="OMIM:610713"}
xref: UMLS:C1853137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377836"}
is_a: MONDO:0000429 {source="DOID:0050689"} ! autosomal genetic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0001-5208-3432"} ! skeletal system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13

[Term]
id: MONDO:0012545
name: neutral lipid storage myopathy
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10288", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98908"}
subset: orphanet_rare {source="Orphanet:98908"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutral lipid storage disease with myopathy" RELATED [MONDO:Lexical, OMIM:610717]
synonym: "neutral lipid storage disease with myopathy without ichthyosis" EXACT [Orphanet:98908]
synonym: "neutral lipid storage disease without ichthyosis" RELATED [OMIM:610717]
synonym: "NLSDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610717, Orphanet:98908]
synonym: "triglyceride deposit cardiomyovasculopathy" RELATED [Orphanet:98908]
xref: GARD:10288 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="Orphanet:98908/attributed", source="Orphanet:98908/ntbt", source="Orphanet:98908"}
xref: MEDGEN:339913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610717 {source="Orphanet:98908/e", source="MONDO:equivalentTo", source="Orphanet:98908"}
xref: Orphanet:98908 {source="MONDO:equivalentTo", source="OMIM:610717"}
xref: SCTID:699315005 {source="MONDO:equivalentTo"}
xref: UMLS:C1853136 {source="MEDGEN:339913", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015611 {source="Orphanet:98908"} ! neutral lipid storage disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30802 {source="MONDO:mim2gene_medgen"} ! PNPLA2

[Term]
id: MONDO:0012546
name: nephrotic syndrome, type 3
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15495", source="MONDO:GARD"}
subset: rare
synonym: "nephrotic syndrome caused by mutation in PLCE1" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, early-onset, type 3" RELATED [OMIM:610725]
synonym: "nephrotic syndrome, type 3" EXACT [MONDO:Lexical, OMIM:610725]
synonym: "NPHS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610725]
synonym: "PLCE1 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080382 {source="MONDO:equivalentTo"}
xref: GARD:15495 {source="MONDO:GARD"}
xref: MEDGEN:377831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610725 {source="MONDO:equivalentTo"}
xref: UMLS:C1853124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377831"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:610725"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:610725"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17175 ! PLCE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17175 {source="MONDO:mim2gene_medgen"} ! PLCE1

[Term]
id: MONDO:0012547
name: Noonan syndrome 4
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Noonan syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610733]
synonym: "Noonan syndrome caused by mutation in SOS1" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 4" EXACT [DOID:0060582, MONDORULE:1, OMIM:610733]
synonym: "NS4" EXACT ABBREVIATION [DOID:0060582, MONDO:Lexical, OMIM:610733]
synonym: "SOS1 gene related Noonan syndrome" RELATED [GARD:0010699]
synonym: "SOS1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060582 {source="MONDO:equivalentTo"}
xref: GARD:10699 {source="MONDO:GARD"}
xref: MEDGEN:339908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548082 {source="MONDO:equivalentTo"}
xref: NCIT:C176932 {source="MONDO:equivalentTo"}
xref: OMIM:610733 {source="DOID:0060582", source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:610733"}
xref: UMLS:C1853120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339908"}
is_a: MONDO:0018997 {source="DC-OMIM:610733", source="DOID:0060582", source="MESH:C548082", source="MONDO:Redundant", source="OMIM:610733"} ! Noonan syndrome
intersection_of: MONDO:0018997 ! Noonan syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11187 ! SOS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11187 {source="MONDO:mim2gene_medgen"} ! SOS1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4" xsd:anyURI {source="GARD:0010699"}

[Term]
id: MONDO:0012548
name: Kostmann syndrome
def: "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." [Orphanet:99749]
subset: gard_rare {source="GARD:302", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99749"}
subset: orphanet_rare {source="Orphanet:99749"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agranulocytosis infantile" RELATED [GARD:0000302]
synonym: "agranulocytosis, infantile" RELATED [OMIM:610738]
synonym: "infantile agranulocytosis" EXACT [Orphanet:99749]
synonym: "Kostmann disease" RELATED [OMIM:610738]
synonym: "neutropenia, severe congenital 3, autosomal recessive" EXACT [OMIM:610738, OMIM:genemap2]
synonym: "neutropenia, severe congenital, 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610738]
synonym: "SCN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610738]
synonym: "severe congenital neutropenia autosomal recessive 3" RELATED [GARD:0000302]
synonym: "severe congenital neutropenia type 3" EXACT [Orphanet:99749]
xref: DOID:0112133 {source="MONDO:equivalentTo"}
xref: GARD:302 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:99749/inclusion", source="Orphanet:99749", source="Orphanet:99749/ntbt"}
xref: MEDGEN:1713491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610738 {source="MONDO:equivalentTo", source="Orphanet:99749", source="Orphanet:99749/e"}
xref: Orphanet:99749 {source="MONDO:equivalentTo", source="OMIM:610738"}
xref: UMLS:C5235141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713491"}
is_a: MONDO:0015356 {source="Orphanet:99749"} ! hereditary neoplastic syndrome
is_a: MONDO:0018542 {source="DC-OMIM:610738", source="OMIM:610738", source="Orphanet:99749", source="Orphanet:99749/inferred"} ! severe congenital neutropenia
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16915 {source="MONDO:mim2gene_medgen"} ! HAX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012549
name: autosomal recessive ataxia, Beauce type
def: "A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations." [Orphanet:88644]
subset: gard_rare {source="GARD:12234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88644"}
subset: orphanet_rare {source="Orphanet:88644"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCA1" EXACT ABBREVIATION [Orphanet:88644]
synonym: "ataxia, recessive, of Beauce" RELATED [OMIM:610743]
synonym: "autosomal recessive ataxia Beauce type" RELATED [GARD:0012234]
synonym: "autosomal recessive cerebellar ataxia type 1" EXACT [Orphanet:88644]
synonym: "autosomal recessive spinocerebellar ataxia 8" RELATED [GARD:0012234]
synonym: "cerebellar ataxia, autosomal recessive, type 1" RELATED [OMIM:610743]
synonym: "recessive ataxia of Beauce" RELATED [GARD:0012234]
synonym: "SCAR8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610743, Orphanet:88644]
synonym: "spinocerebellar ataxia autosomal recessive 8" RELATED [GARD:0012234]
synonym: "spinocerebellar ataxia, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:610743]
synonym: "spinocerebellar ataxia, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:610743]
synonym: "SYNE1-related autosomal recessive cerebellar ataxia" RELATED [GARD:0012234]
xref: DOID:0111618 {source="MONDO:equivalentTo"}
xref: GARD:12234 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:88644/attributed", source="Orphanet:88644/ntbt", source="Orphanet:88644"}
xref: MEDGEN:343973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610743 {source="Orphanet:88644", source="MONDO:equivalentTo", source="Orphanet:88644/e"}
xref: Orphanet:88644 {source="MONDO:equivalentTo", source="OMIM:610743"}
xref: UMLS:C1853116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343973"}
is_a: MONDO:0015244 {source="Orphanet:88644"} ! autosomal recessive cerebellar ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 {source="MONDO:mim2gene_medgen"} ! SYNE1

[Term]
id: MONDO:0012550
name: iris pattern
synonym: "iris pattern" EXACT [OMIM:610744]
xref: MEDGEN:339907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610744 {source="MONDO:equivalentTo"}
xref: UMLS:C1853115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339907"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012551
name: alopecia areata 2
subset: gard_rare {source="GARD:15496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610753]
synonym: "alopecia areata 2" EXACT [MONDO:Lexical, OMIM:610753]
xref: GARD:15496 {source="MONDO:GARD"}
xref: MEDGEN:343971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565186 {source="MONDO:equivalentTo"}
xref: OMIM:610753 {source="MONDO:equivalentTo"}
xref: Orphanet:700 {source="OMIM:610753"}
xref: Orphanet:701 {source="OMIM:610753", source="MONDO:directSiblingOf"}
xref: UMLS:C1853104 {source="MONDO:equivalentTo", source="MEDGEN:343971", source="MONDO:MEDGEN"}
is_a: MONDO:0000005 {source="MONDO:Redundant", source="OMIM:610753"} ! alopecia, isolated
is_a: MONDO:0019080 {source="Orphanet:700/btnt"} ! alopecia totalis

[Term]
id: MONDO:0012552
name: multiple endocrine neoplasia type 4
def: "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." [Orphanet:276152]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17275", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276152"}
subset: orphanet_rare {source="Orphanet:276152"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDKN1B multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MEN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610755, Orphanet:276152]
synonym: "multiple endocrine neoplasia caused by mutation in CDKN1B" EXACT [MONDO:design_pattern]
synonym: "multiple endocrine neoplasia type 4" EXACT CLINGEN_LABEL []
synonym: "multiple endocrine neoplasia, type 4" RELATED [OMIM:610755]
synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexical, OMIM:610755]
xref: DOID:0080137 {source="MONDO:equivalentTo"}
xref: GARD:17275 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="Orphanet:276152/attributed", source="Orphanet:276152/ntbt", source="Orphanet:276152"}
xref: MEDGEN:373469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567059 {source="MONDO:equivalentTo"}
xref: NCIT:C157449 {source="MONDO:equivalentTo"}
xref: OMIM:610755 {source="Orphanet:276152/e", source="MONDO:equivalentTo", source="DOID:0080137", source="Orphanet:276152"}
xref: Orphanet:276152 {source="MONDO:equivalentTo", source="OMIM:610755"}
xref: SCTID:715907003 {source="MONDO:equivalentTo"}
xref: UMLS:C1970712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373469"}
is_a: MONDO:0000426 {source="DOID:0080137", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:C567059/inferred", source="MONDO:Entailed", source="MONDO:indirect"} ! hereditary neoplastic syndrome
is_a: MONDO:0017169 {source="DC-OMIM:610755", source="MONDO:Redundant", source="OMIM:610755"} ! multiple endocrine neoplasia
intersection_of: MONDO:0017169 ! multiple endocrine neoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1785 ! CDKN1B
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610755", source="Orphanet:276152"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1785 {source="MONDO:mim2gene_medgen"} ! CDKN1B

[Term]
id: MONDO:0012553
name: cerebrooculofacioskeletal syndrome 2
def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebrooculofacioskeletal syndrome 2" EXACT [MONDO:Lexical, OMIM:610756]
synonym: "cerebrooculofacioskeletal syndrome type 2" EXACT [MONDORULE:1, OMIM:610756]
synonym: "COFS syndrome caused by mutation in ERCC2" EXACT [MONDO:design_pattern]
synonym: "COFS2" EXACT ABBREVIATION [OMIM:610756]
synonym: "ERCC2 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080912 {source="MONDO:equivalentTo"}
xref: GARD:15497 {source="MONDO:GARD"}
xref: MEDGEN:342799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565185 {source="MONDO:equivalentTo"}
xref: OMIM:610756 {source="MONDO:equivalentTo"}
xref: Orphanet:1466 {source="OMIM:610756"}
xref: Orphanet:191 {source="OMIM:610756"}
xref: UMLS:C1853102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342799"}
is_a: MONDO:0008926 {source="DC-OMIM:610756", source="MONDO:Redundant", source="OMIM:610756"} ! COFS syndrome
intersection_of: MONDO:0008926 ! COFS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 ! ERCC2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610756"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 {source="MONDO:mim2gene_medgen"} ! ERCC2

[Term]
id: MONDO:0012554
name: cerebrooculofacioskeletal syndrome 4
def: "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebrooculofacioskeletal syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610758]
synonym: "cerebrooculofacioskeletal syndrome type 4" EXACT [MONDORULE:1, OMIM:610758]
synonym: "COFS syndrome caused by mutation in ERCC1" EXACT [MONDO:design_pattern]
synonym: "COFS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610758]
synonym: "ERCC1 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080914 {source="MONDO:equivalentTo"}
xref: GARD:15498 {source="MONDO:GARD"}
xref: MEDGEN:342798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565184 {source="MONDO:equivalentTo"}
xref: NCIT:C173104 {source="MONDO:equivalentTo"}
xref: OMIM:610758 {source="MONDO:equivalentTo"}
xref: Orphanet:1466 {source="OMIM:610758"}
xref: Orphanet:191 {source="OMIM:610758"}
xref: UMLS:C1853100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342798"}
is_a: MONDO:0008926 {source="DC-OMIM:610758", source="MONDO:Redundant", source="OMIM:610758"} ! COFS syndrome
intersection_of: MONDO:0008926 ! COFS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3433 ! ERCC1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610758"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3433 {source="MONDO:mim2gene_medgen"} ! ERCC1

[Term]
id: MONDO:0012555
name: Cornelia de Lange syndrome 3
def: "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15499", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDLS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610759]
synonym: "Cornelia DE Lange syndrome 3" RELATED [OMIM:610759]
synonym: "Cornelia de Lange syndrome 3" EXACT [MONDO:Lexical, OMIM:610759]
synonym: "Cornelia de Lange syndrome caused by mutation in SMC3" EXACT []
synonym: "Cornelia de Lange syndrome caused by mutation in Smc3" EXACT [MONDO:design_pattern]
synonym: "Cornelia De Lange syndrome type 3" EXACT [MONDORULE:1, OMIM:610759]
synonym: "SMC3 Cornelia de Lange syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Smc3 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern]
xref: DOID:0080507 {source="MONDO:equivalentTo"}
xref: GARD:15499 {source="MONDO:GARD"}
xref: MEDGEN:339902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610759 {source="MONDO:equivalentTo"}
xref: Orphanet:199 {source="OMIM:610759"}
xref: UMLS:C1853099 {source="MEDGEN:339902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016033 {source="DC-OMIM:610759", source="MONDO:Redundant", source="OMIM:610759"} ! Cornelia de Lange syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2468 ! SMC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2468 {source="MONDO:mim2gene_medgen"} ! SMC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012556
name: DK1-congenital disorder of glycosylation
def: "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." [Orphanet:91131]
subset: gard_rare {source="GARD:12393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91131"}
subset: orphanet_rare {source="Orphanet:91131"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type Im" EXACT [Orphanet:91131]
synonym: "CDG Im" RELATED [OMIM:610768]
synonym: "CDG syndrome type Im" EXACT [Orphanet:91131]
synonym: "CDG-Im" EXACT [Orphanet:91131]
synonym: "CDG1M" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610768, Orphanet:91131]
synonym: "CDGIm" RELATED [GARD:0012393]
synonym: "congenital disorder of glycosylation type 1m" EXACT [Orphanet:91131]
synonym: "congenital disorder of glycosylation type Im" EXACT [Orphanet:91131]
synonym: "congenital disorder of glycosylation, type Im" RELATED [MONDO:Lexical, OMIM:610768]
synonym: "Dk1 deficiency" RELATED [OMIM:610768]
synonym: "DK1-CDG" EXACT ABBREVIATION [Orphanet:91131]
synonym: "DK1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "dolichol kinase deficiency" EXACT [OMIM:610768, Orphanet:91131]
synonym: "DOLK-CDG (CDG-Im)" RELATED [GARD:0012393]
synonym: "hypotonia and ichthyosis due to dolichol phosphate deficiency" EXACT [Orphanet:91131]
xref: DOID:0080565 {source="MONDO:equivalentTo"}
xref: GARD:12393 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:91131", source="Orphanet:91131/attributed", source="Orphanet:91131/ntbt"}
xref: MEDGEN:332072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563666 {source="MONDO:equivalentTo"}
xref: OMIM:610768 {source="Orphanet:91131", source="MONDO:equivalentTo", source="Orphanet:91131/e"}
xref: Orphanet:91131 {source="MONDO:equivalentTo", source="OMIM:610768"}
xref: SCTID:718712005 {source="MONDO:equivalentTo"}
xref: UMLS:C1835849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332072"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005093 ! skin disorder
is_a: MONDO:0005500 {source="DC-OMIM:610768"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C563666", source="MONDO:0012556/inferred", source="MONDO:Redundant", source="OMIM:610768", source="Orphanet:91131/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0017749 {source="Orphanet:91131"} ! disorder of multiple glycosylation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23406 {source="MONDO:mim2gene_medgen"} ! DOLK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012557
name: cardiomyopathy-hypotonia-lactic acidosis syndrome
def: "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter." [Orphanet:91130]
subset: gard_rare {source="GARD:16795", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91130"}
subset: orphanet_rare {source="Orphanet:91130"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome" EXACT []
synonym: "mitochondrial phosphate carrier deficiency" RELATED [OMIM:610773]
synonym: "Mpcd" RELATED [OMIM:610773]
xref: GARD:16795 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:91130/attributed", source="Orphanet:91130/ntbt", source="Orphanet:91130"}
xref: MEDGEN:324373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563665 {source="MONDO:equivalentTo"}
xref: OMIM:610773 {source="Orphanet:91130", source="MONDO:equivalentTo", source="Orphanet:91130/e"}
xref: Orphanet:91130 {source="OMIM:610773", source="MONDO:equivalentTo"}
xref: SCTID:718713000 {source="MONDO:equivalentTo"}
xref: UMLS:C1835845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324373"}
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0006040 {source="https://orcid.org/0000-0001-5208-3432"} ! lactic acidosis
is_a: MONDO:0016801 {source="Orphanet:91130"} ! mitochondrial substrate carrier disorder
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610773", source="Orphanet:91130"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10989 {source="MONDO:mim2gene_medgen"} ! SLC25A3

[Term]
id: MONDO:0012558
name: epiphyseal dysplasia, Baumann type
synonym: "epiphyseal dysplasia, Baumann type" EXACT [OMIM:610797]
xref: MEDGEN:322764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563664 {source="MONDO:equivalentTo"}
xref: OMIM:610797 {source="MONDO:equivalentTo"}
xref: UMLS:C1835830 {source="MEDGEN:322764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C563664/inferred"} ! hereditary disease

[Term]
id: MONDO:0012559
name: primary immunodeficiency syndrome due to p14 deficiency
def: "Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." [Orphanet:90023]
subset: gard_rare {source="GARD:16783", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90023"}
subset: orphanet_rare {source="Orphanet:90023"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunodeficiency due to defect in MAPBP-interacting PROTEIN" RELATED [OMIM:610798]
synonym: "immunodeficiency due to defect in Mapbp-interacting Protein" RELATED [OMIM:610798]
synonym: "primary immunodeficiency syndrome due to LAMTOR2 deficiency" EXACT [Orphanet:90023]
synonym: "primary immunodeficiency syndrome with short stature" EXACT [Orphanet:90023]
xref: GARD:16783 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="Orphanet:90023", source="Orphanet:90023/attributed", source="Orphanet:90023/ntbt"}
xref: MEDGEN:372135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563663 {source="MONDO:equivalentTo"}
xref: NANDO:2200752 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:610798 {source="MONDO:equivalentTo", source="Orphanet:90023", source="Orphanet:90023/e"}
xref: Orphanet:90023 {source="MONDO:equivalentTo", source="OMIM:610798"}
xref: SCTID:718717004 {source="MONDO:equivalentTo"}
xref: UMLS:C1835829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372135"}
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29796 {source="MONDO:mim2gene_medgen"} ! LAMTOR2

[Term]
id: MONDO:0012560
name: obsolete invasive pneumococcal disease, recurrent isolated, 1
comment: Obsolete in OMIM.
xref: OMIM:610799 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2339" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011888

[Term]
id: MONDO:0012561
name: congenital anomalies of kidney and urinary tract 1
def: "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "CAKUT1" EXACT ABBREVIATION [OMIM:610805]
synonym: "congenital anomalies of kidney and urinary tract 1" EXACT [MONDO:Lexical, OMIM:610805]
synonym: "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK" EXACT [MONDO:design_pattern]
synonym: "DSTYK congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "renal hypodysplasia, nonsyndromic, 1" EXACT [OMIM:610805]
xref: DOID:0080206 {source="MONDO:equivalentTo"}
xref: MEDGEN:322763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563661 {source="MONDO:equivalentTo"}
xref: OMIM:610805 {source="MONDO:equivalentTo", source="DOID:0080206"}
xref: UMLS:C1835826 {source="MONDO:equivalentTo", source="MEDGEN:322763", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019719 {source="DOID:0080206", source="MONDO:Redundant", source="OMIM:610805"} ! congenital anomaly of kidney and urinary tract
intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29043 ! DSTYK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29043 {source="MONDO:mim2gene_medgen"} ! DSTYK

[Term]
id: MONDO:0012562
name: holoprosencephaly 7
def: "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "holoprosencephaly 7" EXACT [MONDO:Lexical, OMIM:610828]
synonym: "holoprosencephaly caused by mutation in PTCH1" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 7" EXACT [DOID:0110876, MONDORULE:1, OMIM:610828]
synonym: "HPE7" EXACT ABBREVIATION [DOID:0110876, MONDO:Lexical, OMIM:610828]
synonym: "PTCH1 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110876 {source="MONDO:equivalentTo"}
xref: MEDGEN:372134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563660 {source="MONDO:equivalentTo"}
xref: OMIM:610828 {source="DOID:0110876", source="MONDO:equivalentTo"}
xref: Orphanet:2162 {source="OMIM:610828"}
xref: UMLS:C1835820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372134"}
is_a: MONDO:0016296 {source="DC-OMIM:610828", source="DOID:0110876", source="MESH:C563660", source="MONDO:Redundant", source="OMIM:610828"} ! holoprosencephaly
intersection_of: MONDO:0016296 ! holoprosencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9585 ! PTCH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9585 {source="MONDO:mim2gene_medgen"} ! PTCH1

[Term]
id: MONDO:0012563
name: holoprosencephaly 9
def: "Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GLI2 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "holoprosencephaly 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610829]
synonym: "holoprosencephaly caused by mutation in GLI2" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 9" EXACT [DOID:0110873, MONDORULE:1, OMIM:610829]
synonym: "holoprosencephaly with microphthalmia and first branchial Arch anomalies" RELATED [OMIM:610829]
synonym: "holoprosencephaly with microphthalmia and first branchial arch anomalies" EXACT [DOID:0110873]
synonym: "HPE9" EXACT ABBREVIATION [DOID:0110873, MONDO:Lexical, OMIM:610829]
synonym: "pituitary anomalies with holoprosencephaly-like features" EXACT [DOID:0110873, OMIM:610829]
xref: DOID:0110873 {source="MONDO:equivalentTo"}
xref: MEDGEN:324369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610829 {source="MONDO:equivalentTo", source="DOID:0110873"}
xref: Orphanet:2162 {source="OMIM:610829"}
xref: UMLS:C1835819 {source="MONDO:equivalentTo", source="MEDGEN:324369", source="MONDO:MEDGEN"}
is_a: MONDO:0016296 {source="DOID:0110873", source="MONDO:Redundant", source="OMIM:610829"} ! holoprosencephaly
is_a: MONDO:0017219 ! microform holoprosencephaly
is_a: MONDO:0019756 ! lobar holoprosencephaly
is_a: MONDO:0019757 ! alobar holoprosencephaly
intersection_of: MONDO:0016296 ! holoprosencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4318 ! GLI2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4318 {source="MONDO:mim2gene_medgen"} ! GLI2

[Term]
id: MONDO:0012564
name: Polyosteolysis-hyperostosis syndrome
synonym: "Polyosteolysis-hyperostosis syndrome" EXACT [OMIM:610830]
synonym: "Polyosteolysis/hyperostosis syndrome" RELATED [GARD:0010456]
xref: MEDGEN:324368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563658 {source="MONDO:equivalentTo"}
xref: OMIM:610830 {source="MONDO:equivalentTo"}
xref: UMLS:C1835818 {source="MEDGEN:324368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10456/polyosteolysishyperostosis-syndrome" xsd:anyURI {source="GARD:0010456"}

[Term]
id: MONDO:0012565
name: Fanconi anemia complementation group N
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FANCN" EXACT ABBREVIATION [DOID:0111094, MONDO:Lexical, OMIM:610832]
synonym: "Fanconi anaemia caused by mutation in PALB2" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type N" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in PALB2" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group N" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type N" EXACT [DOID:0111094, MONDORULE:1]
synonym: "Fanconi anemia, complementation group N" RELATED [MONDO:Lexical, OMIM:610832]
synonym: "Fanconi Anemia, complementation group type N" EXACT [MONDORULE:1, OMIM:610832]
synonym: "PALB2 Fanconi anaemia" EXACT OMO:0003005 []
synonym: "PALB2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111094 {source="MONDO:equivalentTo"}
xref: GARD:15500 {source="MONDO:GARD"}
xref: MEDGEN:372133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563657 {source="MONDO:equivalentTo"}
xref: OMIM:610832 {source="DOID:0111094", source="MONDO:equivalentTo"}
xref: UMLS:C1835817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372133"}
is_a: MONDO:0019391 {source="DC-OMIM:610832", source="DOID:0111094", source="MESH:C563657", source="MONDO:Redundant", source="OMIM:610832"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26144 ! PALB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26144 {source="MONDO:mim2gene_medgen"} ! PALB2

[Term]
id: MONDO:0012566
name: autism, susceptibility to, 11
subset: predisposition
synonym: "autism susceptibility 11" EXACT [OMIM:610836, OMIM:genemap2]
synonym: "autism, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:610836]
synonym: "AUTS11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610836]
xref: MEDGEN:370932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610836 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:610836"}
xref: UMLS:C1970512 {source="MEDGEN:370932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012567
name: autism, susceptibility to, 12
subset: predisposition
synonym: "autism susceptibility 12" EXACT [OMIM:610838, OMIM:genemap2]
synonym: "autism, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:610838]
synonym: "AUTS12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610838]
xref: MEDGEN:410089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610838 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:610838"}
xref: UMLS:C1970511 {source="MEDGEN:410089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012568
name: osteoarthritis susceptibility 4
synonym: "OS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610839]
synonym: "osteoarthritis susceptibility 4" EXACT [MONDO:Lexical, OMIM:610839]
synonym: "osteoarthritis, generalized, without dysplasia" RELATED [OMIM:610839]
xref: MEDGEN:332068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610839 {source="MONDO:equivalentTo"}
xref: UMLS:C1835815 {source="MEDGEN:332068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:610839"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005178 {source="DC-OMIM:610839", source="https://orcid.org/0000-0001-5208-3432"} ! osteoarthritis
relationship: predisposes_towards MONDO:0005178 {source="OMIM:610839"} ! osteoarthritis

[Term]
id: MONDO:0012569
name: mitral valve prolapse, myxomatous 3
subset: gard_rare {source="GARD:15501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mitral valve prolapse 3" RELATED [OMIM:610840]
synonym: "mitral valve prolapse, myxomatous 3" EXACT [MONDO:Lexical, OMIM:610840]
synonym: "MMVP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610840]
synonym: "MVP3" RELATED ABBREVIATION [OMIM:610840]
synonym: "myxomatous mitral valve prolapse 3" RELATED [OMIM:610840]
xref: GARD:15501 {source="MONDO:GARD"}
xref: MEDGEN:372132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563655 {source="MONDO:equivalentTo"}
xref: OMIM:610840 {source="MONDO:equivalentTo"}
xref: UMLS:C1835814 {source="MEDGEN:372132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008004 {source="MONDO:Redundant", source="OMIM:610840", source="Orphanet:741/btnt"} ! familial mitral valve prolapse

[Term]
id: MONDO:0012570
name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
def: "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." [Orphanet:91135]
subset: gard_rare {source="GARD:16796", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91135"}
subset: orphanet_rare {source="Orphanet:91135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" RELATED [OMIM:610842]
synonym: "pseudoxanthoma elasticum-like syndrome" EXACT [Orphanet:91135]
synonym: "PXE-like disorder with multiple coagulation Factor deficiency" RELATED [OMIM:610842]
synonym: "PXE-like syndrome" EXACT [Orphanet:91135]
xref: GARD:16796 {source="MONDO:GARD"}
xref: ICD10CM:D68.4 {source="Orphanet:91135", source="Orphanet:91135/attributed", source="Orphanet:91135/ntbt"}
xref: MEDGEN:332067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563654 {source="MONDO:equivalentTo"}
xref: OMIM:610842 {source="MONDO:equivalentTo", source="Orphanet:91135", source="Orphanet:91135/e"}
xref: Orphanet:91135 {source="MONDO:equivalentTo", source="OMIM:610842"}
xref: SCTID:717941005 {source="MONDO:equivalentTo"}
xref: UMLS:C1835813 {source="MEDGEN:332067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100118 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary skin disorder
relationship: disease_arises_from_feature HP:0001928 ! Abnormality of coagulation
relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4247 {source="MONDO:mim2gene_medgen"} ! GGCX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0012571
name: primary ciliary dyskinesia 6
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15502", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD6" EXACT ABBREVIATION [DOID:0110606, MONDO:Lexical, OMIM:610852]
synonym: "ciliary dyskinesia, primary, 6" RELATED [MONDO:Lexical, OMIM:610852]
synonym: "ciliary dyskinesia, primary, type 6" EXACT [MONDORULE:1, OMIM:610852]
synonym: "NME8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia caused by mutation in NME8" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 6" EXACT [DOID:0110606, MONDORULE:1]
xref: DOID:0110606 {source="MONDO:equivalentTo"}
xref: GARD:15502 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110606"}
xref: MEDGEN:370930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567057 {source="MONDO:equivalentTo"}
xref: OMIM:610852 {source="DOID:0110606", source="MONDO:equivalentTo"}
xref: UMLS:C1970506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370930"}
is_a: MONDO:0016575 {source="DC-OMIM:610852", source="DOID:0110606", source="MESH:C567057", source="MONDO:Redundant", source="OMIM:610852"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16473 ! NME8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16473 {source="MONDO:mim2gene_medgen"} ! NME8

[Term]
id: MONDO:0012572
name: Sakoda complex
synonym: "Sakoda complex" EXACT [OMIM:610871]
synonym: "Sakoda spectrum" RELATED [OMIM:610871]
synonym: "sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate" RELATED [GARD:0009695]
synonym: "sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate" RELATED [OMIM:610871]
xref: MEDGEN:370271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567055 {source="MONDO:equivalentTo"}
xref: OMIM:610871 {source="MONDO:equivalentTo"}
xref: UMLS:C1970485 {source="MEDGEN:370271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9695/sakoda-complex" xsd:anyURI {source="GARD:0009695"}

[Term]
id: MONDO:0012573
name: vesicoureteral reflux 2
def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18419", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ROBO2 vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "vesicoureteral reflux (disease) caused by mutation in ROBO2" EXACT []
synonym: "vesicoureteral reflux 2" EXACT [MONDO:Lexical, OMIM:610878]
synonym: "vesicoureteral reflux type 2" EXACT [MONDORULE:1, OMIM:610878]
synonym: "VUR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610878]
xref: GARD:18419 {source="MONDO:GARD"}
xref: MEDGEN:370270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567053 {source="MONDO:equivalentTo"}
xref: OMIM:610878 {source="MONDO:equivalentTo"}
xref: Orphanet:289365 {source="OMIM:610878"}
xref: UMLS:C1970483 {source="MEDGEN:370270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017329 {source="MESH:C567053", source="MONDO:Redundant", source="OMIM:610878", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux
intersection_of: MONDO:0017329 ! familial vesicoureteral reflux
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10250 ! ROBO2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10250 {source="MONDO:mim2gene_medgen"} ! ROBO2

[Term]
id: MONDO:0012574
name: Potocki-Lupski syndrome
def: "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." [Orphanet:1713]
subset: gard_rare {source="GARD:10145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1713"}
subset: ordo_malformation_syndrome {source="Orphanet:1713"}
subset: orphanet_rare {source="Orphanet:1713"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17p11.2 Duplication syndrome" EXACT [NCIT:C124846]
synonym: "17p11.2 microduplication syndrome" EXACT [DOID:0060853]
synonym: "chromosome 17P11.2 Duplication syndrome" RELATED [OMIM:610883]
synonym: "chromosome 17p11.2 duplication syndrome" EXACT [DOID:0060853]
synonym: "Duplication 17p11.2 syndrome" RELATED [GARD:0010145]
synonym: "Potocki-Lupski syndrome" EXACT [MONDO:Lexical, OMIM:610883, Orphanet:1713]
synonym: "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))" RELATED [GARD:0010145]
synonym: "Potocki-Lupski syndrome, Isolated cases" EXACT [OMIM:610883, OMIM:genemap2]
synonym: "PTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610883]
synonym: "trisomy 17p11.2" EXACT [DOID:0060853, Orphanet:1713]
xref: DECIPHER:19 {source="MONDO:equivalentTo"}
xref: DOID:0060853 {source="MONDO:equivalentTo"}
xref: GARD:10145 {source="MONDO:GARD"}
xref: MEDGEN:444010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536578 {source="Orphanet:1713/e", source="DOID:0060853", source="Orphanet:1713"}
xref: NCIT:C124846 {source="MONDO:equivalentTo"}
xref: OMIM:610883 {source="Orphanet:1713/e", source="DOID:0060853", source="MONDO:equivalentTo", source="Orphanet:1713"}
xref: Orphanet:1713 {source="OMIM:610883", source="DOID:0060853", source="MONDO:equivalentTo"}
xref: SCTID:734016004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931246 {source="MEDGEN:444010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DOID:0060853"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124846"} ! syndromic disease
is_a: MONDO:0016950 {source="Orphanet:1713"} ! partial duplication of the short arm of chromosome 17
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1713", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27310 {source="MONDO:mim2gene_medgen"} ! FLCN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012575
name: branchiootorenal syndrome 2
def: "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15503", source="MONDO:GARD"}
subset: rare
synonym: "BOR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610896]
synonym: "branchio-oto-renal syndrome caused by mutation in SIX5" EXACT [MONDO:design_pattern]
synonym: "branchiootorenal syndrome 2" EXACT [MONDO:Lexical, OMIM:610896]
synonym: "branchiootorenal syndrome type 2" EXACT [MONDORULE:1, OMIM:610896]
synonym: "SIX5 branchio-oto-renal syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111424 {source="MONDO:equivalentTo"}
xref: GARD:15503 {source="MONDO:GARD"}
xref: MEDGEN:410081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610896 {source="MONDO:equivalentTo"}
xref: Orphanet:107 {source="OMIM:610896"}
xref: UMLS:C1970479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:410081"}
is_a: MONDO:0007029 {source="DC-OMIM:610896", source="MONDO:Redundant"} ! branchio-oto-renal syndrome
intersection_of: MONDO:0007029 ! branchio-oto-renal syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10891 ! SIX5
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610896"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10891 {source="MONDO:mim2gene_medgen"} ! SIX5

[Term]
id: MONDO:0012576
name: supranuclear palsy, progressive, 3
subset: gard_rare {source="GARD:18345", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PSNP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610898]
synonym: "supranuclear palsy, progressive, 3" EXACT [MONDO:Lexical, OMIM:610898]
xref: GARD:18345 {source="MONDO:GARD"}
xref: MEDGEN:370922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567050 {source="MONDO:equivalentTo"}
xref: OMIM:610898 {source="MONDO:equivalentTo"}
xref: Orphanet:240071 {source="OMIM:610898"}
xref: Orphanet:683 {source="OMIM:610898"}
xref: UMLS:C1970476 {source="MEDGEN:370922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019037 {source="OMIM:610898", source="Orphanet:240071/btnt"} ! progressive supranuclear palsy

[Term]
id: MONDO:0012577
name: asthma-related traits, susceptibility to, 4
subset: predisposition
synonym: "ASRT4" RELATED ABBREVIATION [OMIM:610906]
synonym: "asthma and allergic rhinitis, susceptibility to" RELATED [OMIM:610906]
synonym: "asthma-related traits, susceptibility to, 4" EXACT [OMIM:610906]
synonym: "asthma-related traits, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:610906]
xref: MEDGEN:370920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610906 {source="MONDO:equivalentTo"}
xref: UMLS:C1970474 {source="MEDGEN:370920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010940 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma

[Term]
id: MONDO:0012578
name: autism, susceptibility to, 13
subset: predisposition
synonym: "autism susceptibility 13" EXACT [OMIM:610908, OMIM:genemap2]
synonym: "autism, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:610908]
synonym: "AUTS13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610908]
xref: MEDGEN:410080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610908 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:610908"}
xref: UMLS:C1970473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:410080"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012579
name: autoimmune pulmonary alveolar proteinosis
def: "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)." [Orphanet:747]
subset: gard_rare {source="GARD:7499", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1633"}
subset: ordo_disorder {source="Orphanet:747"}
subset: orphanet_rare {source="Orphanet:747"}
subset: rare
synonym: "acquired pulmonary alveolar proteinosis" RELATED [GARD:0007499]
synonym: "APAP" EXACT ABBREVIATION [Orphanet:747]
synonym: "autoimmune PAP" EXACT [Orphanet:747]
synonym: "idiopathic PAP" EXACT [Orphanet:747]
synonym: "idiopathic pulmonary alveolar proteinosis" EXACT [Orphanet:747]
synonym: "iPAP" EXACT [Orphanet:747]
synonym: "PAP" RELATED ABBREVIATION [GARD:0007499]
synonym: "PAP acquired" RELATED [GARD:0007499]
synonym: "Pap, acquired" RELATED [OMIM:610910]
synonym: "pulmonary alveolar lipoproteinosis acquired" RELATED [GARD:0007499]
synonym: "pulmonary alveolar lipoproteinosis, acquired" RELATED [OMIM:610910]
synonym: "Pulmonary Alveolar Proteinosis" EXACT [NORD:1633]
synonym: "pulmonary alveolar proteinosis acquired" RELATED [GARD:0007499]
synonym: "pulmonary alveolar proteinosis autoimmune" RELATED [GARD:0007499]
synonym: "pulmonary alveolar proteinosis, acquired" RELATED [OMIM:610910]
synonym: "pulmonary alveolar proteinosis, autoimmune" RELATED [OMIM:610910]
xref: GARD:7499 {source="MONDO:GARD"}
xref: ICD10CM:J84.0 {source="Orphanet:747", source="Orphanet:747/ntbt"}
xref: MEDGEN:410079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567049 {source="MONDO:equivalentTo"}
xref: NANDO:1200747 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200748 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1633 {source="MONDO:NORD"}
xref: OMIM:610910 {source="MONDO:equivalentTo", source="Orphanet:747", source="Orphanet:747/e"}
xref: Orphanet:747 {source="MONDO:equivalentTo", source="OMIM:610910"}
xref: SCTID:707443007 {source="MONDO:equivalentTo"}
xref: UMLS:C1970472 {source="MEDGEN:410079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001437 {source="MESH:C567049", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! pulmonary alveolar proteinosis
intersection_of: MONDO:0001437 ! pulmonary alveolar proteinosis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis" xsd:anyURI {source="GARD:0007499"}

[Term]
id: MONDO:0012580
name: hereditary pulmonary alveolar proteinosis
def: "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." [Orphanet:264675]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
subset: gard_rare {source="GARD:4582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:264675"}
subset: orphanet_rare {source="Orphanet:264675"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital PAP" EXACT [GARD:0004582, Orphanet:264675]
synonym: "congenital pulmonary alveolar proteinosis" EXACT [Orphanet:264675]
synonym: "hereditary pulmonary alveolar proteinosis" EXACT [MONDO:patterns/hereditary]
synonym: "inborn error of pulmonary surfactant metabolism" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "inborn error of surfactant metabolism" EXACT [https://orcid.org/0009-0007-1636-9645]
synonym: "pulmonary alveolar proteinosis, congenital" RELATED [GARD:0004582]
synonym: "sufactant metabolism dysfunction, pulmonary" RELATED [OMIMPS:265120]
xref: GARD:4582 {source="MONDO:GARD"}
xref: ICD10CM:J84.0 {source="Orphanet:264675", source="Orphanet:264675/attributed", source="Orphanet:264675/ntbt"}
xref: MEDGEN:777976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535832 {source="MONDO:equivalentTo"}
xref: NANDO:1200746 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200750 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200200 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:265120 {source="MONDO:equivalentTo"}
xref: Orphanet:217566 {source="OMIM:610913"}
xref: Orphanet:264675 {source="MONDO:equivalentTo", source="OMIM:610913", source="GARD:0004582"}
xref: SCTID:707442002 {source="MONDO:equivalentTo"}
xref: UMLS:C3711368 {source="MONDO:equivalentTo", source="MEDGEN:777976", source="MONDO:MEDGEN"}
is_a: MONDO:0001437 {source="MESH:C535832", source="MONDO:Redundant", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-6601-2165"} ! pulmonary alveolar proteinosis
is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:264675/inferred"} ! hereditary disease
intersection_of: MONDO:0001437 ! pulmonary alveolar proteinosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:265120"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7305" xsd:anyURI

[Term]
id: MONDO:0012581
name: osteogenesis imperfecta type 8
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10152", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI type VIII" RELATED [GARD:0010152]
synonym: "OI, type 8" RELATED [OMIM:610915]
synonym: "OI8" EXACT ABBREVIATION [DOID:0110336, MONDO:Lexical, OMIM:610915]
synonym: "osteogenesis imperfecta caused by mutation in P3H1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type 8" EXACT CLINGEN_LABEL []
synonym: "osteogenesis imperfecta type VIII" EXACT [DOID:0110336]
synonym: "osteogenesis imperfecta, type 8" RELATED [OMIM:610915]
synonym: "osteogenesis imperfecta, type VIII" RELATED [MONDO:Lexical, OMIM:610915]
synonym: "P3H1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110336 {source="MONDO:equivalentTo"}
xref: GARD:10152 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110336"}
xref: MEDGEN:410075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536049 {source="MONDO:equivalentTo"}
xref: OMIM:610915 {source="DOID:0110336", source="MONDO:equivalentTo"}
xref: Orphanet:216804 {source="MONDO:directSiblingOf", source="OMIM:610915"}
xref: Orphanet:216812 {source="MONDO:directSiblingOf", source="OMIM:610915"}
xref: Orphanet:666 {source="OMIM:610915"}
xref: UMLS:C1970458 {source="MEDGEN:410075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:610915", source="DOID:0110336", source="MESH:C536049", source="MONDO:Redundant", source="OMIM:610915"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19316 ! P3H1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19316 {source="MONDO:mim2gene_medgen"} ! P3H1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012582
name: interstitial lung disease due to ABCA3 deficiency
def: "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea." [Orphanet:440402]
subset: gard_rare {source="GARD:17745", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440402"}
subset: orphanet_rare {source="Orphanet:440402"}
subset: rare
synonym: "interstitial lung disease due to ABCA3 deficiency" EXACT [OMIM:610921]
synonym: "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency" EXACT [Orphanet:440402]
synonym: "pulmonary alveolar proteinosis, congenital, 3" RELATED [OMIM:610921]
synonym: "SMDP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610921]
synonym: "surfactant metabolism dysfunction, pulmonary, 3" RELATED [MONDO:Lexical, OMIM:610921]
synonym: "surfactant metabolism dysfunction, pulmonary, type 3" EXACT [MONDORULE:1, OMIM:610921]
xref: GARD:17745 {source="MONDO:GARD"}
xref: ICD10CM:J84.8 {source="Orphanet:440402", source="Orphanet:440402/attributed", source="Orphanet:440402/ntbt"}
xref: MEDGEN:410074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567046 {source="MONDO:equivalentTo"}
xref: OMIM:610921 {source="MONDO:equivalentTo", source="Orphanet:440402", source="Orphanet:440402/e"}
xref: Orphanet:217563 {source="OMIM:610921"}
xref: Orphanet:264675 {source="OMIM:610921"}
xref: Orphanet:440402 {source="MONDO:equivalentTo"}
xref: UMLS:C1970456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:410074"}
is_a: MONDO:0012580 {source="OMIM:610921"} ! hereditary pulmonary alveolar proteinosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33 {source="MONDO:mim2gene_medgen"} ! ABCA3

[Term]
id: MONDO:0012583
name: tooth agenesis, selective, 5
subset: gard_rare {source="GARD:18248", source="MONDO:GARD"}
subset: rare
synonym: "he-Zhao deficiency" RELATED [OMIM:610926]
synonym: "hypodontia/oligodontia 5" RELATED [OMIM:610926]
synonym: "STHAG5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610926]
synonym: "tooth agenesis, selective, 5" EXACT [MONDO:Lexical, OMIM:610926]
xref: GARD:18248 {source="MONDO:GARD"}
xref: MEDGEN:346764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565757 {source="MONDO:equivalentTo"}
xref: OMIM:610926 {source="MONDO:equivalentTo"}
xref: Orphanet:99798 {source="OMIM:610926"}
xref: UMLS:C1858210 {source="MEDGEN:346764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:610926", source="OMIM:610926"} ! tooth agenesis

[Term]
id: MONDO:0012584
name: systemic lupus erythematosus, susceptibility to, 9
def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CR2 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "SLEB9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610927]
synonym: "susceptibility to systemic lupus erythematosus 9" RELATED [OMIM:610927]
synonym: "systemic lupus erythematosus (disease) caused by mutation in CR2" EXACT []
synonym: "systemic lupus erythematosus, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:610927]
synonym: "systemic lupus erythematosus, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:610927]
xref: MEDGEN:369736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200801 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:610927 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:610927"}
xref: UMLS:C1970455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369736"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2336 ! CR2
intersection_of: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2336 {source="MONDO:mim2gene_medgen"} ! CR2

[Term]
id: MONDO:0012585
name: coronary heart disease, susceptibility to, 7
def: "Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CD36 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CHDS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610938]
synonym: "coronary artery disease caused by mutation in CD36" EXACT [MONDO:design_pattern]
synonym: "coronary heart disease, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:610938]
synonym: "coronary heart disease, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:610938]
synonym: "susceptibility to coronary heart disease 7" RELATED [OMIM:610938]
xref: MEDGEN:370260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610938 {source="MONDO:equivalentTo"}
xref: UMLS:C1970441 {source="MEDGEN:370260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1663 ! CD36
intersection_of: predisposes_towards MONDO:0005010 ! coronary artery disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1663 {source="MONDO:mim2gene_medgen"} ! CD36

[Term]
id: MONDO:0012586
name: coronary artery disease, autosomal dominant 2
def: "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." [MONDO:patterns/disease_series_by_gene]
subset: otar {source="MONDO:OTAR"}
synonym: "ADCAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610947]
synonym: "coronary artery disease caused by mutation in LRP6" EXACT [MONDO:design_pattern]
synonym: "coronary artery disease, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:610947]
synonym: "coronary artery disease, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:610947]
synonym: "coronary artery disease, autosomal dominant, 2" EXACT [OMIM:610947, OMIM:genemap2]
synonym: "LRP6 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:370259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567045 {source="MONDO:equivalentTo"}
xref: OMIM:610947 {source="MONDO:equivalentTo"}
xref: Orphanet:94062 {source="OMIM:610947"}
xref: UMLS:C1970440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370259"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005010 {source="DC-OMIM:610947", source="MESH:C567045", source="MONDO:Redundant"} ! coronary artery disorder
intersection_of: MONDO:0005010 ! coronary artery disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 ! LRP6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 {source="MONDO:mim2gene_medgen"} ! LRP6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012587
name: hypertension, essential, susceptibility to, 7
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 7" EXACT [OMIM:610948]
synonym: "hypertension, essential, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:610948]
synonym: "Hyt7" RELATED [OMIM:610948]
xref: MEDGEN:370258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610948 {source="MONDO:equivalentTo"}
xref: UMLS:C1970439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370258"}
is_a: MONDO:0020573 {source="OMIM:610948", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0001134 {source="OMIM:610948", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
relationship: excluded_subClassOf MONDO:0007781 {source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension, genetic
relationship: predisposes_towards MONDO:0007781 {source="OMIM:610948"} ! essential hypertension, genetic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012588
name: neuronal ceroid lipofuscinosis 7
def: "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." [https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7]
subset: gard_rare {source="GARD:1220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228366"}
subset: ordo_etiological_subtype {source="Orphanet:228366"}
subset: orphanet_rare {source="Orphanet:228366"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 7" RELATED [MONDO:Lexical, OMIM:610951]
synonym: "ceroid lipofuscinosis, neuronal, type 7" EXACT [MONDORULE:1, OMIM:610951]
synonym: "CLN7" EXACT ABBREVIATION [DOID:0110722, MONDO:Lexical, OMIM:610951]
synonym: "CLN7 disease" RELATED [GARD:0001220]
synonym: "CLN7 disease, late infantile" RELATED [GARD:0001220]
synonym: "MFSD8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronal ceroid lipofuscinosis 7" EXACT CLINGEN_LABEL []
synonym: "neuronal ceroid lipofuscinosis caused by mutation in MFSD8" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 7" EXACT [DOID:0110722, MONDORULE:1]
xref: DOID:0110722 {source="MONDO:equivalentTo"}
xref: GARD:1220 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110722", source="Orphanet:228366/attributed", source="Orphanet:228366/ntbt", source="Orphanet:228366"}
xref: MEDGEN:325457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563989 {source="MONDO:equivalentTo"}
xref: OMIM:610951 {source="Orphanet:228366/e", source="DOID:0110722", source="MONDO:equivalentTo", source="Orphanet:228366"}
xref: Orphanet:168491 {source="OMIM:610951"}
xref: Orphanet:228366 {source="DOID:0110722", source="MONDO:equivalentTo", source="OMIM:610951"}
xref: UMLS:C1838571 {source="MEDGEN:325457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015674 {source="Orphanet:228366"} ! late infantile neuronal ceroid lipofuscinosis
is_a: MONDO:0016295 {source="DOID:0110722", source="MONDO:Redundant", source="OMIM:610951", source="Orphanet:228366/inferred"} ! neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28486 ! MFSD8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28486 {source="MONDO:mim2gene_medgen"} ! MFSD8
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7" xsd:anyURI {source="GARD:0001220"}

[Term]
id: MONDO:0012589
name: Pitt-Hopkins syndrome
def: "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." [Orphanet:2896]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1921"}
subset: ordo_disorder {source="Orphanet:2896"}
subset: ordo_malformation_syndrome {source="Orphanet:2896"}
subset: orphanet_rare {source="Orphanet:2896"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy, Severe epileptic, with autonomic dysfunction" RELATED [OMIM:610954]
synonym: "intellectual disability, Syndromal, with intermittent hyperventilation" RELATED [OMIM:610954]
synonym: "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea" RELATED [GARD:0004372]
synonym: "mental retardation, Syndromal, with intermittent hyperventilation" RELATED DEPRECATED [OMIM:610954]
synonym: "Pitt Hopkins syndrome" RELATED [GARD:0004372]
synonym: "Pitt-Hopkins syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610954]
synonym: "PTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610954]
xref: DOID:0060488 {source="MONDO:equivalentTo"}
xref: GARD:4372 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2896/attributed", source="Orphanet:2896/ntbt", source="Orphanet:2896"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:370910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537403 {source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="Orphanet:2896/e"}
xref: NCIT:C129872 {source="MONDO:equivalentTo"}
xref: NORD:1921 {source="MONDO:NORD"}
xref: OMIM:610954 {source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="Orphanet:2896/e"}
xref: Orphanet:2896 {source="DOID:0060488", source="MONDO:equivalentTo", source="OMIM:610954"}
xref: SCTID:702344008 {source="DOID:0060488", source="MONDO:equivalentTo"}
xref: UMLS:C1970431 {source="MEDGEN:370910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060488", source="MONDO:Redundant", source="NCIT:C129872"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2896"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2896", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:2896", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11634 {source="MONDO:mim2gene_medgen"} ! TCF4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome" xsd:anyURI {source="GARD:0004372"}

[Term]
id: MONDO:0012590
name: XFE progeroid syndrome
def: "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." [DOID:0060590, PMID:17183314]
subset: otar {source="MONDO:OTAR"}
synonym: "XFE progeroid syndrome" EXACT [MONDO:Lexical, OMIM:610965]
synonym: "XFEPS" EXACT ABBREVIATION [DOID:0060590, MONDO:Lexical, OMIM:610965]
synonym: "XPF-ERCC1 progeroid syndrome" EXACT [DOID:0060590, OMIM:610965]
xref: DOID:0060590 {source="MONDO:equivalentTo"}
xref: MEDGEN:410064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567043 {source="MONDO:equivalentTo", source="DOID:0060590"}
xref: NCIT:C173111 {source="MONDO:equivalentTo"}
xref: OMIM:610965 {source="MONDO:equivalentTo", source="DOID:0060590"}
xref: UMLS:C1970416 {source="MEDGEN:410064", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060590"} ! syndromic disease
is_a: MONDO:0003847 {source="MESH:C567043/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 {source="MONDO:mim2gene_medgen"} ! ERCC4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome" xsd:anyURI {source="GARD:0010628"}

[Term]
id: MONDO:0012591
name: osteogenesis imperfecta type 5
def: "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)." [Orphanet:216828]
subset: gard_rare {source="GARD:8699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216828"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IFITM5 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OI type 5" EXACT [Orphanet:216828]
synonym: "OI type V" RELATED [GARD:0008699]
synonym: "OI with calcification in interosseous membranes" RELATED [GARD:0008699]
synonym: "OI, type 5" RELATED [OMIM:610967]
synonym: "OI5" EXACT ABBREVIATION [DOID:0110344, MONDO:Lexical, OMIM:610967]
synonym: "osteogenesis imperfecta caused by mutation in IFITM5" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type V" EXACT [DOID:0110344]
synonym: "osteogenesis imperfecta, type 5" RELATED [OMIM:610967]
synonym: "osteogenesis imperfecta, type V" RELATED [MONDO:Lexical, OMIM:610967]
synonym: "type V OI" RELATED [GARD:0008699]
xref: DOID:0110344 {source="MONDO:equivalentTo"}
xref: GARD:8699 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:216828", source="Orphanet:216828/attributed", source="Orphanet:216828/ntbt", source="DOID:0110344"}
xref: MEDGEN:419332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536046 {source="Orphanet:216828", source="Orphanet:216828/e"}
xref: MESH:C567042 {source="MONDO:equivalentTo"}
xref: OMIM:610967 {source="MONDO:equivalentTo", source="Orphanet:216828", source="Orphanet:216828/e", source="DOID:0110344"}
xref: Orphanet:216828 {source="MONDO:equivalentTo", source="OMIM:610967"}
xref: UMLS:C2931093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419332"}
is_a: MONDO:0019019 {source="DC-OMIM:610967", source="DOID:0110344", source="MESH:C567042", source="MONDO:Redundant", source="OMIM:610967", source="Orphanet:216828"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16644 ! IFITM5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16644 {source="MONDO:mim2gene_medgen"} ! IFITM5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012592
name: osteogenesis imperfecta type 11
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12875", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FKBP10 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OI type 11" RELATED [GARD:0012875]
synonym: "OI type XI" RELATED [GARD:0012875]
synonym: "OI, type 11" RELATED [OMIM:610968]
synonym: "OI11" EXACT ABBREVIATION [DOID:0110351, MONDO:Lexical, OMIM:610968]
synonym: "osteogenesis imperfecta caused by mutation in FKBP10" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XI" EXACT [DOID:0110351]
synonym: "osteogenesis imperfecta, type 11" RELATED [OMIM:610968]
synonym: "osteogenesis imperfecta, type XI" RELATED [MONDO:Lexical, OMIM:610968]
xref: DOID:0110351 {source="MONDO:equivalentTo"}
xref: GARD:12875 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110351"}
xref: MEDGEN:462568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610968 {source="MONDO:equivalentTo", source="DOID:0110351"}
xref: Orphanet:216812 {source="OMIM:610968", source="MONDO:directSiblingOf"}
xref: Orphanet:216820 {source="OMIM:610968", source="MONDO:directSiblingOf"}
xref: Orphanet:666 {source="OMIM:610968"}
xref: UMLS:C3151218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462568"}
is_a: MONDO:0019019 {source="DC-OMIM:610968", source="DOID:0110351", source="MONDO:Redundant", source="OMIM:610968"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 ! FKBP10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 {source="MONDO:mim2gene_medgen"} ! FKBP10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012593
name: brain-lung-thyroid syndrome
def: "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)." [Orphanet:209905]
subset: gard_rare {source="GARD:12163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209905"}
subset: orphanet_rare {source="Orphanet:209905"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BLT syndrome" RELATED [GARD:0012163]
synonym: "brain-lung-thyroid syndrome" EXACT [OMIM:610978]
synonym: "CAHTP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610978]
synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" RELATED [GARD:0012163, MONDO:Lexical, OMIM:610978]
synonym: "choreoathetosis, hypothyroidism, and neonatal respiratory distress" EXACT [OMIM:610978, OMIM:genemap2]
synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress" RELATED [GARD:0012163]
synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" EXACT [Orphanet:209905]
xref: GARD:12163 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:209905/attributed", source="Orphanet:209905/ntbt", source="Orphanet:209905"}
xref: icd11.foundation:809856670 {source="Orphanet:209905", source="MONDO:equivalentTo"}
xref: MEDGEN:369694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567034 {source="MONDO:equivalentTo"}
xref: OMIM:610978 {source="Orphanet:209905", source="MONDO:equivalentTo", source="Orphanet:209905/e"}
xref: Orphanet:209905 {source="MONDO:equivalentTo", source="OMIM:610978"}
xref: SCTID:719098007 {source="MONDO:equivalentTo"}
xref: UMLS:C1970269 {source="MEDGEN:369694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
is_a: MONDO:0005395 ! movement disorder
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11825 {source="MONDO:mim2gene_medgen"} ! NKX2-1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome" xsd:anyURI {source="GARD:0012163"}

[Term]
id: MONDO:0012594
name: complement factor I deficiency
subset: gard_rare {source="GARD:17098", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:200418"}
subset: orphanet_rare {source="Orphanet:200418"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C3 inactivator deficiency" EXACT [DOID:0050419]
synonym: "CFID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610984]
synonym: "complement component 3 inactivator deficiency" EXACT [DOID:0050419, OMIM:610984]
synonym: "complement Factor 1 deficiency" RELATED [OMIM:610984]
synonym: "complement factor I deficiency" EXACT [MONDO:Lexical, OMIM:610984]
synonym: "immunodeficiency with factor I anomaly" RELATED [Orphanet:200418]
xref: DOID:0050419 {source="MONDO:equivalentTo"}
xref: GARD:17098 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:200418", source="Orphanet:200418/attributed", source="Orphanet:200418/ntbt"}
xref: MEDGEN:483045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C572568 {source="MONDO:equivalentTo"}
xref: NANDO:2200790 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200798 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:610984 {source="Orphanet:200418/e", source="MONDO:equivalentTo", source="Orphanet:200418", source="DOID:0050419"}
xref: Orphanet:200418 {source="MONDO:equivalentTo", source="OMIM:610984"}
xref: UMLS:C3463916 {source="MEDGEN:483045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003832 {source="DOID:0050419"} ! complement deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5394 {source="MONDO:mim2gene_medgen"} ! CFI

[Term]
id: MONDO:0012595
name: leprosy, susceptibility to, 4
def: "Any leprosy in which the cause of the disease is a mutation in the LTA gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "leprosy caused by mutation in LTA" EXACT [MONDO:design_pattern]
synonym: "leprosy, early-onset, susceptibility to" RELATED [OMIM:610988]
synonym: "leprosy, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:610988]
synonym: "leprosy, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:610988]
synonym: "LPRS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610988]
synonym: "LTA leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to leprosy 4" RELATED [OMIM:610988]
xref: MEDGEN:370866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610988 {source="MONDO:equivalentTo"}
xref: Orphanet:548 {source="OMIM:610988"}
xref: UMLS:C1970254 {source="MEDGEN:370866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6709 ! LTA
intersection_of: predisposes_towards MONDO:0005124 ! leprosy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6709 {source="MONDO:mim2gene_medgen"} ! LTA

[Term]
id: MONDO:0012596
name: PSAT deficiency
def: "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." [Orphanet:284417]
subset: gard_rare {source="GARD:13273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:284417"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "phosphoserine aminotransferase deficiency" EXACT [DOID:0050723, MONDO:Lexical, OMIM:610992]
synonym: "PSAT deficiency" EXACT [OMIM:610992, Orphanet:284417]
synonym: "PSATD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610992]
xref: DOID:0050723 {source="MONDO:equivalentTo"}
xref: GARD:13273 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:284417/attributed", source="Orphanet:284417/ntbt", source="Orphanet:284417"}
xref: MEDGEN:410026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567032 {source="MONDO:equivalentTo"}
xref: OMIM:610992 {source="Orphanet:284417/e", source="MONDO:equivalentTo", source="DOID:0050723", source="Orphanet:284417"}
xref: Orphanet:284417 {source="OMIM:610992", source="MONDO:equivalentTo"}
xref: SCTID:718603002 {source="MONDO:equivalentTo"}
xref: UMLS:C1970253 {source="MONDO:equivalentTo", source="MEDGEN:410026", source="MONDO:MEDGEN"}
is_a: MONDO:0018162 {source="Orphanet:284417"} ! neurometabolic disorder due to serine deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:284417", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19129 {source="MONDO:mim2gene_medgen"} ! PSAT1

[Term]
id: MONDO:0012597
name: prostate cancer, hereditary, 9
subset: gard_rare {source="GARD:15505", source="MONDO:GARD"}
subset: rare
synonym: "HPC9" RELATED ABBREVIATION [OMIM:610997]
synonym: "prostate cancer, hereditary, 9" EXACT [OMIM:610997]
synonym: "prostate cancer, hereditary, type 9" EXACT [MONDORULE:1, OMIM:610997]
xref: GARD:15505 {source="MONDO:GARD"}
xref: MEDGEN:369689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567031 {source="MONDO:equivalentTo"}
xref: OMIM:610997 {source="MONDO:equivalentTo"}
xref: UMLS:C1970250 {source="MONDO:equivalentTo", source="MEDGEN:369689", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:610997", source="MONDO:0012597/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0012598
name: fibromatosis, gingival, 4
subset: gard_rare {source="GARD:2475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibromatosis gingival, hereditary, 4" RELATED [GARD:0002475]
synonym: "fibromatosis, gingival, 4" EXACT [MONDO:Lexical, OMIM:611010]
synonym: "fibromatosis, gingival, hereditary, 4" RELATED [OMIM:611010]
synonym: "GGF4" RELATED ABBREVIATION [OMIM:611010]
synonym: "GINGF4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611010]
synonym: "gingival fibromatosis, 4" RELATED [GARD:0002475]
synonym: "hereditary gingival fibromatosis, 4" RELATED [GARD:0002475]
synonym: "HGF4" RELATED ABBREVIATION [GARD:0002475]
xref: GARD:2475 {source="MONDO:GARD"}
xref: MEDGEN:370209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567028 {source="MONDO:equivalentTo"}
xref: OMIM:611010 {source="MONDO:equivalentTo"}
xref: Orphanet:2024 {source="OMIM:611010"}
xref: UMLS:C1970245 {source="MEDGEN:370209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016070 {source="DC-OMIM:611010", source="OMIM:611010"} ! hereditary gingival fibromatosis

[Term]
id: MONDO:0012599
name: hypertension, essential, susceptibility to, 8
subset: predisposition
synonym: "hypertension, essential, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:611014]
synonym: "HYT8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611014]
xref: MEDGEN:369687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611014 {source="MONDO:equivalentTo"}
xref: UMLS:C1970244 {source="MEDGEN:369687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:611014", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0001134 {source="OMIM:611014", source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension
relationship: excluded_subClassOf MONDO:0007781 {source="https://orcid.org/0000-0001-5208-3432"} ! essential hypertension, genetic
relationship: predisposes_towards MONDO:0007781 {source="OMIM:611014"} ! essential hypertension, genetic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012600
name: autism, susceptibility to, 9
subset: predisposition
synonym: "autism, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:611015]
synonym: "AUTS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611015]
xref: MEDGEN:410023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611015 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:611015"}
xref: UMLS:C1970243 {source="MEDGEN:410023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism

[Term]
id: MONDO:0012601
name: autism, susceptibility to, 10
subset: predisposition
synonym: "autism, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:611016]
synonym: "AUTS10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611016]
xref: MEDGEN:370865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611016 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:611016"}
xref: UMLS:C1970242 {source="MEDGEN:370865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 ! autism

[Term]
id: MONDO:0012602
name: autosomal recessive nonsyndromic hearing loss 24
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 24" NARROW [DOID:0110482]
synonym: "autosomal recessive nonsyndromic deafness 24" NARROW [OMIM:611022]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RDX" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 24" NARROW [DOID:0110482, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 24" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 24" NARROW [MONDO:Lexical, OMIM:611022, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 24" NARROW [MONDORULE:2, OMIM:611022]
synonym: "DFNB24" NARROW ABBREVIATION [DOID:0110482, MONDO:Lexical, OMIM:611022]
synonym: "RDX autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110482 {source="MONDO:equivalentTo"}
xref: GARD:22626 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110482"}
xref: MEDGEN:370208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567027 {source="MONDO:equivalentTo"}
xref: OMIM:611022 {source="MONDO:equivalentTo", source="DOID:0110482"}
xref: UMLS:C1970239 {source="MEDGEN:370208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:611022", source="DOID:0110482", source="MONDO:Redundant", source="OMIM:611022"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9944 ! RDX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9944 {source="MONDO:mim2gene_medgen"} ! RDX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012603
name: episodic kinesigenic dyskinesia 2
def: "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1." [DOID:0090054]
subset: gard_rare {source="GARD:15506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dystonia 19" RELATED [OMIM:611031]
synonym: "EKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611031]
synonym: "episodic kinesigenic dyskinesia 2" EXACT [MONDO:Lexical, OMIM:611031]
synonym: "episodic kinesigenic dyskinesia type 2" EXACT [DOID:0090054, MONDORULE:1]
xref: DOID:0090054 {source="MONDO:equivalentTo"}
xref: GARD:15506 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="DOID:0090054"}
xref: MEDGEN:410022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567026 {source="MONDO:equivalentTo"}
xref: NANDO:1200532 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:611031 {source="DOID:0090054", source="MONDO:equivalentTo"}
xref: Orphanet:98809 {source="DOID:0090054", source="MONDO:directSiblingOf", source="OMIM:611031"}
xref: UMLS:C1970238 {source="MEDGEN:410022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044202 {source="OMIM:611031"} ! episodic kinesigenic dyskinesia
is_a: MONDO:0044807 {source="DOID:0090054", source="OMIM:611031"} ! inherited dystonia

[Term]
id: MONDO:0012604
name: isolated microphthalmia 3
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "isolated microphthalmia 3" EXACT CLINGEN_LABEL []
synonym: "isolated microphthalmia caused by mutation in RAX" EXACT []
synonym: "isolated microphthalmia caused by mutation in rax" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 3" EXACT [DOID:0060842, MONDORULE:1]
synonym: "MCOP3" EXACT ABBREVIATION [DOID:0060842, MONDO:Lexical, OMIM:611038]
synonym: "microphthalmia, isolated 3" RELATED [MONDO:Lexical, OMIM:611038]
synonym: "microphthalmia, isolated type 3" EXACT [MONDORULE:1, OMIM:611038]
synonym: "RAX isolated microphthalmia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "rax isolated microphthalmia" EXACT [MONDO:design_pattern]
xref: DOID:0060842 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q11.0 {source="DOID:0060842"}
xref: MEDGEN:1823955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567025 {source="MONDO:equivalentTo"}
xref: OMIM:611038 {source="DOID:0060842", source="MONDO:equivalentTo"}
xref: Orphanet:2542 {source="DOID:0060842", source="OMIM:611038"}
xref: UMLS:C5774181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823955"}
is_a: MONDO:0000062 {source="DC-OMIM:611038", source="MONDO:Redundant", source="OMIM:611038"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18662 ! RAX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18662 {source="MONDO:mim2gene_medgen"} ! RAX

[Term]
id: MONDO:0012605
name: isolated microphthalmia 5
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17205", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251279"}
subset: orphanet_rare {source="Orphanet:251279"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated microphthalmia 5" EXACT CLINGEN_LABEL []
synonym: "isolated microphthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 5" EXACT [DOID:0060837, MONDORULE:1]
synonym: "MCOP5" EXACT ABBREVIATION [DOID:0060837, MONDO:Lexical, OMIM:611040]
synonym: "MFRP isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microphthalmia, isolated 5" RELATED [MONDO:Lexical, OMIM:611040]
synonym: "microphthalmia, isolated type 5" EXACT [MONDORULE:1, OMIM:611040]
synonym: "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen" RELATED [OMIM:611040]
synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 []
synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [DOID:0060837]
synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 []
synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [Orphanet:251279]
synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT OMO:0003005 []
synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen" EXACT [DOID:0060837]
xref: DOID:0060837 {source="MONDO:equivalentTo"}
xref: GARD:17205 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/attributed", source="Orphanet:251279/ntbt"}
xref: MEDGEN:410021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567024 {source="MONDO:equivalentTo"}
xref: OMIM:611040 {source="MONDO:equivalentTo", source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/e"}
xref: Orphanet:251279 {source="MONDO:equivalentTo", source="DOID:0060837", source="OMIM:611040"}
xref: UMLS:C1970236 {source="MEDGEN:410021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000062 {source="DC-OMIM:611040", source="MONDO:Redundant", source="OMIM:611040"} ! isolated microphthalmia
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 ! MFRP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 {source="MONDO:mim2gene_medgen"} ! MFRP

[Term]
id: MONDO:0012606
name: Mycobacterium tuberculosis, susceptibility to, 2
subset: predisposition
synonym: "MTBS2" RELATED ABBREVIATION [OMIM:611046]
synonym: "Mycobacterium tuberculosis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:611046]
xref: MEDGEN:369686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611046 {source="MONDO:equivalentTo"}
xref: UMLS:C1970235 {source="MEDGEN:369686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000070 {source="DC-OMIM:611046"} ! Mycobacterium tuberculosis, susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0012607
name: asthma-related traits, susceptibility to, 5
def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ASRT5" RELATED ABBREVIATION [OMIM:611064]
synonym: "asthma susceptibility 5" EXACT [OMIM:611064, OMIM:genemap2]
synonym: "asthma-related traits, susceptibility to, 5" EXACT [OMIM:611064]
synonym: "asthma-related traits, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:611064]
synonym: "inherited susceptibility to asthma caused by mutation in IRAK3" EXACT [MONDO:design_pattern]
synonym: "IRAK3 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:370858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611064 {source="MONDO:equivalentTo"}
xref: UMLS:C1970224 {source="MEDGEN:370858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010940 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma
intersection_of: MONDO:0010940 ! inherited susceptibility to asthma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17020 ! IRAK3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17020 {source="MONDO:mim2gene_medgen"} ! IRAK3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012608
name: neuronopathy, distal hereditary motor, autosomal recessive 4
def: "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." [Orphanet:206580]
subset: gard_rare {source="GARD:17101", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206580"}
subset: orphanet_rare {source="Orphanet:206580"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [Orphanet:206580]
synonym: "autosomal recessive lower motor neuron disease with childhood onset" EXACT [Orphanet:206580]
synonym: "distal spinal muscular atrophy type 4" EXACT [Orphanet:206580]
synonym: "DSMA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611067]
synonym: "dSMA4" EXACT [Orphanet:206580]
synonym: "neuronopathy, distal hereditary motor, autosomal recessive 4" EXACT [Orphanet:206580]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 4" RELATED [MONDO:Lexical, OMIM:611067]
synonym: "spinal muscular atrophy, distal, autosomal recessive, type 4" EXACT [MONDORULE:1, OMIM:611067]
xref: DOID:0111213 {source="MONDO:equivalentTo"}
xref: GARD:17101 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:206580", source="Orphanet:206580/attributed", source="Orphanet:206580/ntbt"}
xref: MEDGEN:369682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567023 {source="MONDO:equivalentTo"}
xref: OMIM:611067 {source="MONDO:equivalentTo", source="Orphanet:206580", source="Orphanet:206580/e"}
xref: Orphanet:206580 {source="OMIM:611067", source="MONDO:equivalentTo"}
xref: UMLS:C1970211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369682"}
is_a: MONDO:0001516 {source="DC-OMIM:611067", source="MESH:C567023/inferred"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="OMIM:611067"} ! neuronopathy, distal hereditary motor, autosomal recessive
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29105 {source="MONDO:mim2gene_medgen"} ! PLEKHG5

[Term]
id: MONDO:0012609
name: Alzheimer disease 12
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." [DOID:0110045, PMID:16825432]
subset: gard_rare {source="GARD:16516", source="MONDO:GARD"}
subset: rare
synonym: "AD12" EXACT ABBREVIATION [DOID:0110045]
synonym: "Ad12" RELATED [OMIM:611073]
synonym: "Alzheimer disease 12" EXACT [DOID:0110045, OMIM:611073]
synonym: "Alzheimer disease familial 12" EXACT [DOID:0110045]
synonym: "Alzheimer disease type 12" EXACT [MONDORULE:2, OMIM:611073]
synonym: "Alzheimer disease, familial, 12" RELATED [OMIM:611073]
synonym: "Alzheimer's disease 12" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 12" EXACT [DOID:0110045, MONDORULE:2]
xref: DOID:0110045 {source="MONDO:equivalentTo"}
xref: GARD:16516 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110045"}
xref: MEDGEN:410013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567022 {source="MONDO:equivalentTo"}
xref: OMIM:611073 {source="MONDO:equivalentTo", source="DOID:0110045"}
xref: Orphanet:1020 {source="OMIM:611073"}
xref: UMLS:C1970209 {source="MEDGEN:410013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0012610
name: inflammatory bowel disease 10
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ATG16L1 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IBD10" EXACT ABBREVIATION [DOID:0110885, MONDO:Lexical, OMIM:611081]
synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT [DOID:0110885]
synonym: "inflammatory bowel disease 10" EXACT [MONDO:Lexical, OMIM:611081]
synonym: "inflammatory bowel disease caused by mutation in ATG16L1" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 10" EXACT [DOID:0110885, MONDORULE:2, OMIM:611081]
xref: DOID:0110885 {source="MONDO:equivalentTo"}
xref: MEDGEN:370205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567021 {source="MONDO:equivalentTo"}
xref: OMIM:611081 {source="DOID:0110885", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:611081"}
xref: Orphanet:771 {source="OMIM:611081"}
xref: UMLS:C1970207 {source="MEDGEN:370205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DC-OMIM:611081", source="DOID:0110885", source="MESH:C567021", source="MONDO:Redundant", source="OMIM:611081"} ! inflammatory bowel disease
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21498 ! ATG16L1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21498 {source="MONDO:mim2gene_medgen"} ! ATG16L1

[Term]
id: MONDO:0012611
name: polyhydramnios, megalencephaly, and symptomatic epilepsy
subset: gard_rare {source="GARD:12913", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500533"}
subset: orphanet_rare {source="Orphanet:500533"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PMSE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611087]
synonym: "PMSE syndrome" EXACT [OMIM:611087, Orphanet:500533]
synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy" EXACT [MONDO:Lexical, OMIM:611087]
synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome" RELATED [GARD:0012913]
synonym: "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" RELATED [Orphanet:500533]
synonym: "pretzel syndrome" RELATED [GARD:0012913]
xref: DOID:0070511 {source="MONDO:equivalentTo"}
xref: GARD:12913 {source="MONDO:GARD"}
xref: MEDGEN:370203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567020 {source="MONDO:equivalentTo"}
xref: OMIM:611087 {source="Orphanet:500533", source="MONDO:equivalentTo"}
xref: Orphanet:500533 {source="MONDO:equivalentTo"}
xref: UMLS:C1970203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370203"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0015653 {source="Orphanet:500533"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500533", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30172 {source="MONDO:mim2gene_medgen"} ! STRADA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012612
name: intellectual disability, autosomal recessive 12
subset: gard_rare {source="GARD:22540", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, autosomal recessive 12" EXACT [OMIM:611090, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 12" EXACT [MONDO:Lexical, OMIM:611090]
synonym: "intellectual disability, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:611090]
synonym: "mental retardation, autosomal recessive 12" RELATED DEPRECATED [MONDO:Lexical, OMIM:611090]
synonym: "mental retardation, autosomal recessive type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:611090]
synonym: "MRT12" RELATED DEPRECATED [MONDO:Lexical, OMIM:611090]
xref: DOID:0081180 {source="MONDO:equivalentTo"}
xref: GARD:22540 {source="MONDO:GARD"}
xref: MEDGEN:370850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567019 {source="MONDO:equivalentTo"}
xref: OMIM:611090 {source="MONDO:equivalentTo"}
xref: UMLS:C1970200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370850"}
is_a: MONDO:0019502 {source="DC-OMIM:611090", source="OMIM:611090"} ! autosomal recessive non-syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012613
name: intellectual disability, autosomal recessive 5
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22541", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 5" EXACT [MONDO:Lexical, OMIM:611091]
synonym: "intellectual disability, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:611091]
synonym: "mental retardation, autosomal recessive 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:611091]
synonym: "mental retardation, autosomal recessive type 5" EXACT DEPRECATED [MONDORULE:1, OMIM:611091]
synonym: "MRT5" RELATED DEPRECATED [MONDO:Lexical, OMIM:611091]
synonym: "NSUN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081181 {source="MONDO:equivalentTo"}
xref: GARD:22541 {source="MONDO:GARD"}
xref: MEDGEN:370849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567018 {source="MONDO:equivalentTo"}
xref: OMIM:611091 {source="MONDO:equivalentTo"}
xref: UMLS:C1970199 {source="MONDO:equivalentTo", source="MEDGEN:370849", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:611091", source="MONDO:Redundant", source="OMIM:611091"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25994 ! NSUN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25994 {source="MONDO:mim2gene_medgen"} ! NSUN2

[Term]
id: MONDO:0012614
name: intellectual disability, autosomal recessive 6
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22542", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2" EXACT [MONDO:design_pattern]
synonym: "GRIK2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal recessive 6" EXACT [OMIM:611092, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:611092]
synonym: "intellectual disability, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:611092]
synonym: "mental retardation, autosomal recessive 6" RELATED DEPRECATED [MONDO:Lexical, OMIM:611092]
synonym: "mental retardation, autosomal recessive type 6" EXACT DEPRECATED [MONDORULE:1, OMIM:611092]
synonym: "MRT6" RELATED DEPRECATED [MONDO:Lexical, OMIM:611092]
xref: DOID:0081182 {source="MONDO:equivalentTo"}
xref: GARD:22542 {source="MONDO:GARD"}
xref: MEDGEN:370848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567017 {source="MONDO:equivalentTo"}
xref: OMIM:611092 {source="MONDO:equivalentTo"}
xref: UMLS:C1970198 {source="MEDGEN:370848", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:611092", source="MONDO:Redundant", source="OMIM:611092"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4580 ! GRIK2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4580 {source="MONDO:mim2gene_medgen"} ! GRIK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012615
name: intellectual disability, autosomal recessive 7
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22543", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 22" RELATED [OMIM:611093]
synonym: "intellectual disability, autosomal recessive 7" EXACT [MONDO:Lexical, OMIM:611093]
synonym: "intellectual disability, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:611093]
synonym: "mental retardation, autosomal recessive 22" RELATED DEPRECATED [OMIM:611093]
synonym: "mental retardation, autosomal recessive 7" RELATED DEPRECATED [MONDO:Lexical, OMIM:611093]
synonym: "mental retardation, autosomal recessive type 7" EXACT DEPRECATED [MONDORULE:1, OMIM:611093]
synonym: "MRT7" RELATED DEPRECATED [MONDO:Lexical, OMIM:611093]
synonym: "TUSC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081183 {source="MONDO:equivalentTo"}
xref: GARD:22543 {source="MONDO:GARD"}
xref: MEDGEN:370847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567016 {source="MONDO:equivalentTo"}
xref: OMIM:611093 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:611093"}
xref: UMLS:C1970197 {source="MEDGEN:370847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:611093", source="MONDO:Redundant", source="OMIM:611093"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30242 ! TUSC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30242 {source="MONDO:mim2gene_medgen"} ! TUSC3

[Term]
id: MONDO:0012616
name: obsolete MRT8
comment: OMIM merged these
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1706" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013676

[Term]
id: MONDO:0012617
name: intellectual disability, autosomal recessive 9
subset: gard_rare {source="GARD:22544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 26" RELATED [OMIM:611095]
synonym: "intellectual disability, autosomal recessive 9" EXACT [MONDO:Lexical, OMIM:611095]
synonym: "mental retardation, autosomal recessive 26" RELATED DEPRECATED [OMIM:611095]
synonym: "mental retardation, autosomal recessive 9" RELATED DEPRECATED [MONDO:Lexical, OMIM:611095]
synonym: "mental retardation, autosomal recessive, 9/26" EXACT [OMIM:611095, OMIM:genemap2]
synonym: "MRT9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611095]
xref: DOID:0081184 {source="MONDO:equivalentTo"}
xref: GARD:22544 {source="MONDO:GARD"}
xref: MEDGEN:369678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567014 {source="MONDO:equivalentTo"}
xref: OMIM:611095 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:611095"}
xref: UMLS:C1970195 {source="MONDO:equivalentTo", source="MEDGEN:369678", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:611095", source="OMIM:611095"} ! autosomal recessive non-syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012618
name: intellectual disability, autosomal recessive 10
subset: gard_rare {source="GARD:22545", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 10" EXACT [MONDO:Lexical, OMIM:611096]
synonym: "intellectual disability, autosomal recessive 20" RELATED [OMIM:611096]
synonym: "mental retardation, autosomal recessive 10" RELATED DEPRECATED [MONDO:Lexical, OMIM:611096]
synonym: "mental retardation, autosomal recessive 10/20" EXACT [OMIM:611096, OMIM:genemap2]
synonym: "mental retardation, autosomal recessive 20" RELATED DEPRECATED [OMIM:611096]
synonym: "MRT10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611096]
xref: DOID:0081185 {source="MONDO:equivalentTo"}
xref: GARD:22545 {source="MONDO:GARD"}
xref: MEDGEN:410010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567013 {source="MONDO:equivalentTo"}
xref: OMIM:611096 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:611096"}
xref: UMLS:C1970194 {source="MEDGEN:410010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:611096", source="OMIM:611096"} ! autosomal recessive non-syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012619
name: intellectual disability, autosomal recessive 11
subset: gard_rare {source="GARD:22546", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 11" EXACT [MONDO:Lexical, OMIM:611097]
synonym: "mental retardation, autosomal recessive 11" RELATED DEPRECATED [MONDO:Lexical, OMIM:611097]
synonym: "mental retardation, autosomal recessive, 11" EXACT [OMIM:611097, OMIM:genemap2]
synonym: "MRT11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611097]
xref: DOID:0081186 {source="MONDO:equivalentTo"}
xref: GARD:22546 {source="MONDO:GARD"}
xref: MEDGEN:369677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567012 {source="MONDO:equivalentTo"}
xref: OMIM:611097 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:611097"}
xref: UMLS:C1970193 {source="MEDGEN:369677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:611097", source="OMIM:611097"} ! autosomal recessive non-syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012620
name: prostate cancer, hereditary, 10
subset: gard_rare {source="GARD:15507", source="MONDO:GARD"}
subset: rare
synonym: "HPC10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611100]
synonym: "prostate cancer, hereditary, 10" EXACT [MONDO:Lexical, OMIM:611100]
xref: GARD:15507 {source="MONDO:GARD"}
xref: MEDGEN:370202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567011 {source="MONDO:equivalentTo"}
xref: OMIM:611100 {source="MONDO:equivalentTo"}
xref: UMLS:C1970192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370202"}
is_a: MONDO:0008315 {source="DC-OMIM:611100", source="MONDO:0012620/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0012621
name: deafness-infertility syndrome
def: "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." [Orphanet:94064]
subset: gard_rare {source="GARD:11911", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94064"}
subset: ordo_malformation_syndrome {source="Orphanet:94064"}
subset: orphanet_rare {source="Orphanet:94064"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 15Q15.3 deletion syndrome" RELATED [OMIM:611102]
synonym: "deafness and male infertility" EXACT [OMIM:611102, OMIM:genemap2]
synonym: "deafness, sensorineural, and Male infertility" RELATED [OMIM:611102]
synonym: "deafness-infertility syndrome" EXACT [MONDO:Lexical, OMIM:611102]
synonym: "dis" EXACT [MONDO:Lexical, OMIM:611102, Orphanet:94064]
synonym: "sensorineural deafness and male infertility" RELATED [GARD:0011911]
xref: GARD:11911 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:94064/attributed", source="Orphanet:94064/ntbt", source="Orphanet:94064"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:370197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567010 {source="MONDO:equivalentTo"}
xref: OMIM:611102 {source="Orphanet:94064/e", source="MONDO:equivalentTo", source="Orphanet:94064"}
xref: Orphanet:94064 {source="OMIM:611102", source="MONDO:equivalentTo"}
xref: SCTID:700489002 {source="MONDO:equivalentTo"}
xref: UMLS:C1970187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370197"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0016913 {source="Orphanet:94064"} ! partial deletion of the long arm of chromosome 15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome" xsd:anyURI {source="GARD:0011911"}

[Term]
id: MONDO:0012622
name: leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
def: "This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." [Orphanet:137898]
subset: gard_rare {source="GARD:12652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1941"}
subset: ordo_disorder {source="Orphanet:137898"}
subset: orphanet_rare {source="Orphanet:137898"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LBSL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611105, Orphanet:137898]
synonym: "leukoencephalopathy with brain stem and spinal cord involvement - high lactate" RELATED [GARD:0012652]
synonym: "leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation" RELATED [GARD:0012652]
synonym: "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation" EXACT [NORD:1941]
synonym: "leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation" RELATED [GARD:0012652]
synonym: "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" EXACT CLINGEN_LABEL []
synonym: "leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" EXACT [Orphanet:137898]
synonym: "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" RELATED [MONDO:Lexical, OMIM:611105]
synonym: "mitochondrial aspartyl-tRNA synthetase deficiency" RELATED [OMIM:611105]
xref: GARD:12652 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:137898/attributed", source="Orphanet:137898/ntbt", source="Orphanet:137898"}
xref: MEDGEN:370845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567009 {source="MONDO:equivalentTo"}
xref: NORD:1941 {source="MONDO:NORD"}
xref: OMIM:611105 {source="Orphanet:137898", source="MONDO:equivalentTo", source="Orphanet:137898/e"}
xref: Orphanet:137898 {source="MONDO:equivalentTo", source="OMIM:611105"}
xref: SCTID:703537008 {source="MONDO:equivalentTo"}
xref: UMLS:C1970180 {source="MEDGEN:370845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019046 {source="Orphanet:137898"} ! leukodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25538 {source="MONDO:mim2gene_medgen"} ! DARS2

[Term]
id: MONDO:0012623
name: intellectual disability, autosomal recessive 4
subset: gard_rare {source="GARD:22547", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 4" EXACT [MONDO:Lexical, OMIM:611107]
synonym: "mental retardation, autosomal recessive 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:611107]
synonym: "mental retardation, autosomal recessive, 4" EXACT [OMIM:611107, OMIM:genemap2]
synonym: "MRT4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611107]
xref: DOID:0081187 {source="MONDO:equivalentTo"}
xref: GARD:22547 {source="MONDO:GARD"}
xref: MEDGEN:370844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567008 {source="MONDO:equivalentTo"}
xref: OMIM:611107 {source="MONDO:equivalentTo"}
xref: UMLS:C1970179 {source="MEDGEN:370844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:611107", source="OMIM:611107"} ! autosomal recessive non-syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012624
name: acyl-CoA dehydrogenase 9 deficiency
def: "A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." [Orphanet:99901]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12986", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99901"}
subset: orphanet_rare {source="Orphanet:99901"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACAD9 deficiency" EXACT [OMIM:611126, Orphanet:99901]
synonym: "acyl-CoA dehydrogenase 9 deficiency" EXACT CLINGEN_LABEL [OMIM:611126]
synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT [OMIM:611126]
synonym: "mitochondrial complex I deficiency, nuclear type 20" EXACT [OMIM:611126, OMIM:genemap2]
xref: DOID:0112072 {source="MONDO:equivalentTo"}
xref: GARD:12986 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:99901", source="Orphanet:99901/attributed", source="Orphanet:99901/ntbt"}
xref: MEDGEN:1648400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567006 {source="MONDO:equivalentTo"}
xref: OMIM:611126 {source="MONDO:equivalentTo", source="Orphanet:99901", source="Orphanet:99901/e"}
xref: Orphanet:99901 {source="MONDO:equivalentTo", source="OMIM:611126"}
xref: SCTID:725046003 {source="MONDO:equivalentTo"}
xref: UMLS:C4747517 {source="MEDGEN:1648400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017713 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fatty acid oxidation and ketogenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21497 {source="MONDO:mim2gene_medgen"} ! ACAD9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012625
name: retinitis pigmentosa 37
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15508", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NR2E3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 37" EXACT [MONDO:Lexical, OMIM:611131]
synonym: "retinitis pigmentosa caused by mutation in NR2E3" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 37" EXACT [DOID:0110399, MONDORULE:2, OMIM:611131]
synonym: "RP37" EXACT ABBREVIATION [DOID:0110399, MONDO:Lexical, OMIM:611131]
xref: DOID:0110399 {source="MONDO:equivalentTo"}
xref: GARD:15508 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110399"}
xref: MEDGEN:410004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567005 {source="MONDO:equivalentTo"}
xref: OMIM:611131 {source="MONDO:equivalentTo", source="DOID:0110399"}
xref: Orphanet:791 {source="OMIM:611131"}
xref: UMLS:C1970163 {source="MONDO:equivalentTo", source="MEDGEN:410004", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:611131", source="DOID:0110399", source="MESH:C567005", source="MONDO:Redundant", source="OMIM:611131"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7974 ! NR2E3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7974 {source="MONDO:mim2gene_medgen"} ! NR2E3

[Term]
id: MONDO:0012626
name: Meckel syndrome, type 4
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15509", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP290 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meckel syndrome 4" RELATED [DOID:0070118]
synonym: "Meckel syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 4" EXACT [MONDO:Lexical, OMIM:611134]
synonym: "Meckel-Gruber syndrome, type 4" EXACT [DOID:0070118, OMIM:611134]
synonym: "Meckel-like Cerebrorenodigital syndrome" RELATED [OMIM:611134]
synonym: "MKS4" EXACT ABBREVIATION [DOID:0070118, MONDO:Lexical, OMIM:611134]
xref: DOID:0070118 {source="MONDO:equivalentTo"}
xref: GARD:15509 {source="MONDO:GARD"}
xref: ICD10CM:Q61.9 {source="DOID:0070118"}
xref: MEDGEN:410003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611134 {source="MONDO:equivalentTo", source="DOID:0070118"}
xref: Orphanet:564 {source="OMIM:611134"}
xref: UMLS:C1970161 {source="MEDGEN:410003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018921 {source="DC-OMIM:611134", source="DOID:0070118", source="MONDO:Redundant", source="OMIM:611134"} ! Meckel syndrome
is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290-related ciliopathy
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="MONDO:mim2gene_medgen"} ! CEP290
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012627
name: epilepsy, idiopathic generalized, susceptibility to, 13
def: "An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
subset: predisposition
synonym: "EIG13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611136]
synonym: "epilepsy, childhood absence, susceptibility to, 4" RELATED [OMIM:611136]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:611136]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 13" EXACT [MONDORULE:2, OMIM:611136]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 5" RELATED [OMIM:611136]
synonym: "GABRA1 juvenile myoclonic epilepsy" RELATED [MONDO:patterns/disease_series_by_gene]
synonym: "juvenile myoclonic epilepsy caused by mutation in GABRA1" RELATED [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalised epilepsy 13" EXACT OMO:0003005 []
synonym: "susceptibility to idiopathic generalized epilepsy 13" EXACT [OMIM:611136]
xref: DOID:0111314 {source="MONDO:equivalentTo"}
xref: MEDGEN:861910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567002 {source="MONDO:equivalentTo"}
xref: OMIM:611136 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="OMIM:611136"}
xref: Orphanet:64280 {source="MONDO:relatedTo", source="OMIM:611136"}
xref: UMLS:C4013473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:861910"}
is_a: MONDO:0020573 {source="OMIM:611136"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005579 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! epilepsy, idiopathic generalized
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4075 {source="MONDO:mim2gene_medgen"} ! GABRA1
relationship: predisposes_towards MONDO:0005579 {source="OMIM:611136"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0009696 {source="OMIM:611136"} ! juvenile myoclonic epilepsy
relationship: predisposes_towards MONDO:0010826 {source="OMIM:611136"} ! childhood absence epilepsy

[Term]
id: MONDO:0012628
name: coronary heart disease, susceptibility to, 8
subset: predisposition
synonym: "CHDS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611139]
synonym: "coronary heart disease, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:611139]
xref: MEDGEN:370192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611139 {source="MONDO:equivalentTo"}
xref: UMLS:C1970158 {source="MEDGEN:370192", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:611139", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
relationship: predisposes_towards MONDO:0005010 {source="OMIM:611139"} ! coronary artery disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012629
name: paroxysmal nonkinesigenic dyskinesia 2
def: "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31." [DOID:0090047]
subset: gard_rare {source="GARD:15510", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dystonia 20" RELATED [OMIM:611147]
synonym: "paroxysmal nonkinesigenic dyskinesia 2" EXACT [MONDO:Lexical, OMIM:611147]
synonym: "paroxysmal nonkinesigenic dyskinesia type 2" EXACT [DOID:0090047, MONDORULE:1]
synonym: "PNKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611147]
xref: DOID:0090047 {source="MONDO:equivalentTo"}
xref: GARD:15510 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="DOID:0090047"}
xref: MEDGEN:370188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567001 {source="MONDO:equivalentTo"}
xref: NANDO:1200533 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:611147 {source="DOID:0090047", source="MONDO:equivalentTo"}
xref: Orphanet:98810 {source="OMIM:611147", source="DOID:0090047"}
xref: UMLS:C1970149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370188"}
is_a: MONDO:0015427 {source="Orphanet:98810/btnt"} ! paroxysmal dyskinesia
is_a: MONDO:0044807 {source="DOID:0090047", source="MONDO:Redundant", source="OMIM:611147"} ! inherited dystonia
is_a: MONDO:0700088 {source="Orphanet:98810"} ! paroxysmal nonkinesigenic dyskinesia

[Term]
id: MONDO:0012630
name: Alzheimer disease 13
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21." [DOID:0110046, PMID:17564960]
subset: gard_rare {source="GARD:16517", source="MONDO:GARD"}
subset: rare
synonym: "AD13" EXACT ABBREVIATION [DOID:0110046, MONDO:Lexical, OMIM:611152]
synonym: "Alzheimer disease 13" EXACT [DOID:0110046, MONDO:Lexical, OMIM:611152]
synonym: "Alzheimer disease-13" EXACT [OMIM:611152, OMIM:genemap2]
synonym: "Alzheimer's disease 13" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 13" EXACT [DOID:0110046, MONDORULE:2]
xref: DOID:0110046 {source="MONDO:equivalentTo"}
xref: GARD:16517 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110046"}
xref: MEDGEN:370835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567000 {source="MONDO:equivalentTo"}
xref: OMIM:611152 {source="MONDO:equivalentTo", source="DOID:0110046"}
xref: Orphanet:1020 {source="OMIM:611152"}
xref: UMLS:C1970147 {source="MEDGEN:370835", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012631
name: Alzheimer disease 14
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25." [DOID:0110047, PMID:17564960]
subset: gard_rare {source="GARD:16518", source="MONDO:GARD"}
subset: rare
synonym: "AD14" EXACT ABBREVIATION [DOID:0110047, MONDO:Lexical, OMIM:611154]
synonym: "Alzheimer disease 14" EXACT [DOID:0110047, MONDO:Lexical, OMIM:611154]
synonym: "Alzheimer disease-14" EXACT [OMIM:611154, OMIM:genemap2]
synonym: "Alzheimer's disease 14" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 14" EXACT [DOID:0110047, MONDORULE:2]
xref: DOID:0110047 {source="MONDO:equivalentTo"}
xref: GARD:16518 {source="MONDO:GARD"}
xref: ICD10CM:G30 {source="DOID:0110047"}
xref: MEDGEN:369666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566999 {source="MONDO:equivalentTo"}
xref: OMIM:611154 {source="MONDO:equivalentTo", source="DOID:0110047"}
xref: UMLS:C1970144 {source="MEDGEN:369666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015140 {source="Orphanet:1020/btnt"} ! early-onset autosomal dominant Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012632
name: obsolete Alzheimer disease 15
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2767" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011401

[Term]
id: MONDO:0012633
name: obsolete malaria
is_obsolete: true
replaced_by: MONDO:0005136

[Term]
id: MONDO:0012634
name: craniofacial dysplasia - osteopenia syndrome
subset: gard_rare {source="GARD:17422", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314555"}
subset: ordo_malformation_syndrome {source="Orphanet:314555"}
subset: orphanet_rare {source="Orphanet:314555"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HAMAMY syndrome" RELATED [MONDO:Lexical, OMIM:611174]
synonym: "Hamamy syndrome" EXACT [Orphanet:314555]
synonym: "HMMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611174]
synonym: "hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility" RELATED [OMIM:611174]
synonym: "hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility" RELATED DEPRECATED [OMIM:611174]
xref: GARD:17422 {source="MONDO:GARD"}
xref: MEDGEN:370148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566988 {source="MONDO:equivalentTo"}
xref: OMIM:611174 {source="Orphanet:314555", source="MONDO:equivalentTo", source="Orphanet:314555/e"}
xref: Orphanet:314555 {source="MONDO:equivalentTo", source="OMIM:611174"}
xref: UMLS:C1970027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370148"}
is_a: MONDO:0021147 {source="Orphanet:314555", source="Orphanet:314555/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14361 {source="MONDO:mim2gene_medgen"} ! IRX5

[Term]
id: MONDO:0012635
name: COG8-congenital disorder of glycosylation
def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." [Orphanet:95428]
subset: gard_rare {source="GARD:12411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95428"}
subset: orphanet_rare {source="Orphanet:95428"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [Orphanet:95428]
synonym: "CDG IIh" RELATED [OMIM:611182]
synonym: "CDG syndrome type IIh" EXACT [Orphanet:95428]
synonym: "CDG-IIh" EXACT [Orphanet:95428]
synonym: "CDG2H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611182, Orphanet:95428]
synonym: "COG8-CDG" EXACT ABBREVIATION [Orphanet:95428]
synonym: "COG8-CDG (CDG-IIh)" RELATED [GARD:0012411]
synonym: "COG8-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "congenital disorder of glycosylation type 2h" EXACT [Orphanet:95428]
synonym: "congenital disorder of glycosylation type IIh" EXACT [Orphanet:95428]
synonym: "congenital disorder of glycosylation, type IIh" RELATED [MONDO:Lexical, OMIM:611182]
xref: DOID:0070260 {source="MONDO:equivalentTo"}
xref: GARD:12411 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:95428/attributed", source="Orphanet:95428/ntbt", source="Orphanet:95428"}
xref: MEDGEN:409971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566987 {source="MONDO:equivalentTo"}
xref: OMIM:611182 {source="Orphanet:95428/e", source="MONDO:equivalentTo", source="Orphanet:95428"}
xref: Orphanet:95428 {source="MONDO:equivalentTo", source="OMIM:611182"}
xref: SCTID:717774004 {source="MONDO:equivalentTo"}
xref: UMLS:C1970021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409971"}
is_a: MONDO:0005501 {source="DC-OMIM:611182", source="OMIM:611182"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0017750 {source="Orphanet:95428"} ! defect in conserved oligomeric Golgi complex
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18623 {source="MONDO:mim2gene_medgen"} ! COG8

[Term]
id: MONDO:0012636
name: restless legs syndrome, susceptibility to, 6
subset: predisposition
synonym: "periodic limb movements in sleep" RELATED [GARD:0010273, OMIM:611185]
synonym: "restless legs syndrome 6" EXACT [OMIM:611185, OMIM:genemap2]
synonym: "restless legs syndrome, susceptibility to, 6" EXACT [OMIM:611185]
synonym: "RLS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611185]
xref: MEDGEN:370810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611185 {source="MONDO:equivalentTo"}
xref: UMLS:C1970020 {source="MEDGEN:370810", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100170 {source="OMIM:611185"} ! restless legs syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005391 {source="DC-OMIM:611185", source="OMIM:611185"} ! restless legs syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012637
name: COG1-congenital disorder of glycosylation
def: "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." [Orphanet:263508]
subset: gard_rare {source="GARD:10226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263508"}
subset: orphanet_rare {source="Orphanet:263508"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT [Orphanet:263508]
synonym: "CDG 2G" RELATED [GARD:0010226]
synonym: "CDG IIg" RELATED [OMIM:611209]
synonym: "CDG syndrome type IIg" EXACT [Orphanet:263508]
synonym: "CDG-IIg" EXACT [Orphanet:263508]
synonym: "CDG2G" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611209, Orphanet:263508]
synonym: "Cdgii/Cog1 Cerebrocostomandibular-like syndrome" RELATED [OMIM:611209]
synonym: "COG1-CDG" EXACT ABBREVIATION [Orphanet:263508]
synonym: "COG1-CDG (CDG-IIg)" RELATED [GARD:0010226]
synonym: "COG1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "congenital disorder of glycosylation type 2g" EXACT [Orphanet:263508]
synonym: "congenital disorder of glycosylation type IIg" EXACT [Orphanet:263508]
synonym: "congenital disorder of glycosylation, type IIg" RELATED [MONDO:Lexical, OMIM:611209]
xref: DOID:0070259 {source="MONDO:equivalentTo"}
xref: GARD:10226 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:263508", source="Orphanet:263508/attributed", source="Orphanet:263508/ntbt"}
xref: MEDGEN:443957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535756 {source="MONDO:equivalentTo"}
xref: OMIM:611209 {source="Orphanet:263508", source="MONDO:equivalentTo", source="Orphanet:263508/e"}
xref: Orphanet:263508 {source="MONDO:equivalentTo", source="OMIM:611209"}
xref: SCTID:718750004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443957"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005267 {source="MONDO:0018290-obsoleted"} ! heart disorder
is_a: MONDO:0005501 {source="DC-OMIM:611209", source="OMIM:611209"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017750 {source="Orphanet:263508"} ! defect in conserved oligomeric Golgi complex
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6545 {source="MONDO:mim2gene_medgen"} ! COG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0012638
name: microphthalmia-brain atrophy syndrome
def: "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." [Orphanet:77299]
subset: gard_rare {source="GARD:9292", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:77299"}
subset: ordo_malformation_syndrome {source="Orphanet:77299"}
subset: orphanet_rare {source="Orphanet:77299"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCOPS10" EXACT ABBREVIATION [GARD:0009292, MONDO:Lexical, OMIM:611222, Orphanet:77299]
synonym: "microphthalmia and brain atrophy" RELATED [GARD:0009292, OMIM:611222]
synonym: "microphthalmia syndromic 10" RELATED [GARD:0009292]
synonym: "microphthalmia, syndromic 10" RELATED [MONDO:Lexical, OMIM:611222]
synonym: "MOBA" RELATED ABBREVIATION [GARD:0009292]
synonym: "MOBA syndrome" EXACT [Orphanet:77299]
synonym: "syndromic microphthalmia type 10" EXACT [Orphanet:77299]
xref: DOID:0111812 {source="MONDO:equivalentTo"}
xref: GARD:9292 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:77299/attributed", source="Orphanet:77299/ntbt", source="Orphanet:77299"}
xref: MEDGEN:370809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566985 {source="MONDO:equivalentTo"}
xref: OMIM:611222 {source="GARD:0009292", source="Orphanet:77299/e", source="MONDO:equivalentTo", source="Orphanet:77299"}
xref: Orphanet:77299 {source="GARD:0009292", source="OMIM:611222", source="MONDO:equivalentTo"}
xref: SCTID:720010009 {source="MONDO:equivalentTo"}
xref: UMLS:C1970013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370809"}
is_a: MONDO:0016073 {source="DC-OMIM:611222", source="OMIM:611222", source="Orphanet:77299"} ! syndromic microphthalmia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:77299"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:77299", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10" xsd:anyURI {source="GARD:0009292"}

[Term]
id: MONDO:0012639
name: hereditary spastic paraplegia 18
def: "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2." [Orphanet:209951]
subset: gard_rare {source="GARD:4922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209951"}
subset: orphanet_rare {source="Orphanet:209951"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 18" EXACT [DOID:0110771]
synonym: "autosomal recessive spastic paraplegia type 18" EXACT [DOID:0110771]
synonym: "ERLIN2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 18" EXACT [DOID:0110771, MONDORULE:2]
synonym: "IDMDC" RELATED EXCLUDE [DOID:0110771]
synonym: "intellectual disability, motor dysfunction and joint contractures" EXACT [DOID:0110771]
synonym: "intellectual disability, motor dysfunction, and Joint contractures" RELATED [OMIM:611225]
synonym: "spastic paraplegia 18" RELATED [GARD:0004922]
synonym: "spastic paraplegia 18, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611225]
synonym: "SPG18" EXACT ABBREVIATION [DOID:0110771, MONDO:Lexical, OMIM:611225, Orphanet:209951]
xref: DOID:0110771 {source="MONDO:equivalentTo"}
xref: GARD:4922 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:209951/attributed", source="Orphanet:209951/ntbt", source="DOID:0110771", source="Orphanet:209951"}
xref: MEDGEN:442343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567628 {source="MONDO:equivalentTo"}
xref: OMIM:611225 {source="Orphanet:209951/e", source="MONDO:equivalentTo", source="DOID:0110771", source="Orphanet:209951"}
xref: Orphanet:209951 {source="MONDO:equivalentTo", source="OMIM:611225", source="DOID:0110771"}
xref: SCTID:732932004 {source="MONDO:equivalentTo"}
xref: UMLS:C2749936 {source="MEDGEN:442343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019064 {source="DOID:0110771", source="MESH:C567628", source="MONDO:Redundant", source="OMIM:611225", source="Orphanet:209951/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1356 {source="MONDO:mim2gene_medgen"} ! ERLIN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012640
name: Charcot-Marie-Tooth disease type 4J
def: "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." [Orphanet:139515]
subset: gard_rare {source="GARD:12443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139515"}
subset: orphanet_rare {source="Orphanet:139515"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [DOID:0110184]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4J" RELATED [OMIM:611228]
synonym: "Charcot-Marie-Tooth disease, type 4J" RELATED [GARD:0012443, MONDO:Lexical, OMIM:611228]
synonym: "CMT4J" EXACT ABBREVIATION [DOID:0110184, MONDO:Lexical, OMIM:611228, Orphanet:139515]
synonym: "FIG4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110184 {source="MONDO:equivalentTo"}
xref: GARD:12443 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:139515/attributed", source="Orphanet:139515/ntbt", source="Orphanet:139515", source="DOID:0110184"}
xref: MEDGEN:370808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566984 {source="MONDO:equivalentTo"}
xref: NCIT:C134954 {source="MONDO:equivalentTo"}
xref: OMIM:611228 {source="Orphanet:139515", source="MONDO:equivalentTo", source="DOID:0110184", source="Orphanet:139515/e"}
xref: Orphanet:139515 {source="MONDO:equivalentTo", source="OMIM:611228", source="DOID:0110184"}
xref: SCTID:720638000 {source="MONDO:equivalentTo"}
xref: UMLS:C1970011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370808"}
is_a: MONDO:0015626 {source="DOID:0110184/inferred", source="MESH:C566984", source="MONDO:Redundant", source="NCIT:C134954", source="OMIM:611228", source="Orphanet:139515/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110184", source="MONDO:Redundant", source="Orphanet:139515"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 ! FIG4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 {source="MONDO:mim2gene_medgen"} ! FIG4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j" xsd:anyURI {source="GARD:0012443"}

[Term]
id: MONDO:0012641
name: restless legs syndrome, susceptibility to, 5
subset: predisposition
synonym: "restless legs syndrome 5" EXACT [OMIM:611242, OMIM:genemap2]
synonym: "restless legs syndrome, susceptibility to, 5" EXACT [OMIM:611242]
synonym: "RLS 5" RELATED [GARD:0010272]
synonym: "RLS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611242]
xref: MEDGEN:370807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611242 {source="MONDO:equivalentTo"}
xref: UMLS:C1970010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370807"}
is_a: MONDO:0100170 {source="OMIM:611242"} ! restless legs syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005391 {source="DC-OMIM:611242", source="OMIM:611242"} ! restless legs syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012642
name: major affective disorder 4
synonym: "bipolar affective disorder" RELATED [OMIM:611247]
synonym: "MAFD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611247]
synonym: "MAJOR affective disorder 4" RELATED [OMIM:611247]
synonym: "major affective disorder 4" EXACT [OMIM:611247]
xref: MEDGEN:372671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567073 {source="MONDO:equivalentTo"}
xref: OMIM:611247 {source="MONDO:equivalentTo"}
xref: UMLS:C1970943 {source="MEDGEN:372671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:611247", source="MESH:C567073", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder

[Term]
id: MONDO:0012643
name: hereditary spastic paraplegia 32
def: "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." [Orphanet:171622]
subset: gard_rare {source="GARD:12749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171622"}
subset: orphanet_rare {source="Orphanet:171622"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 32" EXACT [DOID:0110783]
synonym: "autosomal recessive spastic paraplegia type 32" EXACT [DOID:0110783]
synonym: "hereditary spastic paraplegia type 32" EXACT [DOID:0110783, MONDORULE:2]
synonym: "spastic paraplegia 32" RELATED [GARD:0012749]
synonym: "spastic paraplegia 32, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611252]
synonym: "SPG32" EXACT ABBREVIATION [DOID:0110783, MONDO:Lexical, OMIM:611252, Orphanet:171622]
xref: DOID:0110783 {source="MONDO:equivalentTo"}
xref: GARD:12749 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:171622/attributed", source="Orphanet:171622/ntbt", source="DOID:0110783", source="Orphanet:171622"}
xref: MEDGEN:409967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566983 {source="MONDO:equivalentTo"}
xref: OMIM:611252 {source="Orphanet:171622/e", source="MONDO:equivalentTo", source="DOID:0110783", source="Orphanet:171622"}
xref: Orphanet:171622 {source="OMIM:611252", source="MONDO:equivalentTo", source="DOID:0110783"}
xref: SCTID:726606003 {source="MONDO:equivalentTo"}
xref: UMLS:C1970009 {source="MEDGEN:409967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110783", source="MESH:C566983", source="MONDO:Redundant", source="OMIM:611252", source="Orphanet:171622/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012644
name: asphyxiating thoracic dystrophy 2
def: "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15511", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "asphyxiating thoracic dystrophy 2" EXACT [OMIM:611263]
synonym: "asphyxiating thoracic dystrophy type 2" EXACT [DOID:0110086, MONDORULE:1]
synonym: "ATD2" EXACT ABBREVIATION [DOID:0110086]
synonym: "IFT80 Jeune syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Jeune syndrome caused by mutation in IFT80" EXACT [MONDO:design_pattern]
synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT [DOID:0110086, MONDO:Lexical, OMIM:611263]
synonym: "SRTD2" EXACT ABBREVIATION [DOID:0110086, MONDO:Lexical, OMIM:611263]
xref: DOID:0110086 {source="MONDO:equivalentTo"}
xref: GARD:15511 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110086"}
xref: MEDGEN:370804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566982 {source="MONDO:equivalentTo"}
xref: OMIM:611263 {source="MONDO:equivalentTo", source="DOID:0110086"}
xref: Orphanet:474 {source="OMIM:611263"}
xref: UMLS:C1970005 {source="MEDGEN:370804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018770 {source="DOID:0110086", source="MONDO:Redundant", source="OMIM:611263"} ! Jeune syndrome
intersection_of: MONDO:0018770 ! Jeune syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29262 ! IFT80
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29262 {source="MONDO:mim2gene_medgen"} ! IFT80

[Term]
id: MONDO:0012645
name: glaucoma 1, open angle, N
subset: gard_rare {source="GARD:18231", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 1, open angle, N" EXACT [MONDO:Lexical, OMIM:611274]
synonym: "GLC1N" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611274]
synonym: "JOAG1N" EXACT ABBREVIATION []
xref: GARD:18231 {source="MONDO:GARD"}
xref: MEDGEN:370756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566977 {source="MONDO:equivalentTo"}
xref: OMIM:611274 {source="MONDO:equivalentTo"}
xref: Orphanet:98977 {source="OMIM:611274"}
xref: UMLS:C1969812 {source="MEDGEN:370756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucoma

[Term]
id: MONDO:0012646
name: obsolete glaucoma 1, open angle, H
synonym: "glaucoma 1, open angle, H" EXACT [MONDO:Lexical, OMIM:611276]
synonym: "GLC1H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611276]
xref: MESH:C566976 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:611276 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0012647
name: obsolete generalized epilepsy with febrile seizures plus, type 3
is_obsolete: true
replaced_by: MONDO:0011891

[Term]
id: MONDO:0012648
name: isobutyryl-CoA dehydrogenase deficiency
def: "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)." [Orphanet:79159]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79159"}
subset: orphanet_rare {source="Orphanet:79159"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acad8 deficiency" RELATED [OMIM:611283]
synonym: "acyl-Coa dehydrogenase family, member 8, deficiency of" RELATED [OMIM:611283]
synonym: "acyl-CoaA dehydrogenase family, member 8, deficiency of" RELATED [GARD:0010223]
synonym: "IBD deficiency" RELATED [OMIM:611283]
synonym: "isobutyric aciduria" EXACT [Orphanet:79159]
synonym: "isobutyryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [OMIM:611283]
xref: GARD:10223 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:79159/attributed", source="Orphanet:79159/ntbt", source="Orphanet:79159"}
xref: MEDGEN:370754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535541 {source="Orphanet:79159/e", source="MONDO:equivalentTo", source="Orphanet:79159"}
xref: NCIT:C129975 {source="MONDO:equivalentTo"}
xref: OMIM:611283 {source="Orphanet:79159/e", source="MONDO:equivalentTo", source="Orphanet:79159"}
xref: Orphanet:79159 {source="MONDO:equivalentTo", source="OMIM:611283"}
xref: UMLS:C1969809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370754"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0019215 {source="Orphanet:79159"} ! classic organic aciduria
relationship: disease_has_major_feature HP:0001644 {source="Orphanet:79159"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:79159", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/87 {source="MONDO:mim2gene_medgen"} ! ACAD8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0010223"}

[Term]
id: MONDO:0012649
name: obsolete FTSD
is_obsolete: true
replaced_by: MONDO:0044871

[Term]
id: MONDO:0012650
name: Cernunnos-XLF deficiency
def: "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." [Orphanet:169079]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17045", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169079"}
subset: orphanet_rare {source="Orphanet:169079"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cernunnos deficiency" EXACT [Orphanet:169079]
synonym: "Cernunnos XLFD" EXACT [Orphanet:169079]
synonym: "Cernunnos-XLF deficiency" EXACT CLINGEN_LABEL []
synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome" EXACT OMO:0003005 []
synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" EXACT [Orphanet:169079]
synonym: "NHEJ1 deficiency" EXACT [Orphanet:169079]
synonym: "Nhej1 syndrome" RELATED [OMIM:611291]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 []
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation" RELATED OMO:0003005 []
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291]
synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation" RELATED OMO:0003005 []
synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291]
synonym: "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 []
synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291]
xref: GARD:17045 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="Orphanet:169079", source="Orphanet:169079/attributed", source="Orphanet:169079/ntbt"}
xref: MEDGEN:369590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566970 {source="MONDO:equivalentTo"}
xref: OMIM:611291 {source="Orphanet:169079", source="MONDO:equivalentTo", source="Orphanet:169079/e"}
xref: Orphanet:169079 {source="MONDO:equivalentTo", source="OMIM:611291"}
xref: SCTID:720853005 {source="MONDO:equivalentTo"}
xref: UMLS:C1969799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369590"}
is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0031520 {source="OMIM:611291"} ! familial severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:169079", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25737 {source="MONDO:mim2gene_medgen"} ! NHEJ1

[Term]
id: MONDO:0012651
name: spastic ataxia 2
def: "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." [Orphanet:397946]
subset: gard_rare {source="GARD:17644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397946"}
subset: orphanet_rare {source="Orphanet:397946"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic ataxia type 2" EXACT [Orphanet:397946]
synonym: "autosomal recessive spastic paraplegia type 58" RELATED [Orphanet:397946]
synonym: "KIF1C spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic ataxia 2" EXACT CLINGEN_LABEL []
synonym: "spastic ataxia 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611302]
synonym: "spastic ataxia caused by mutation in KIF1C" EXACT [MONDO:design_pattern]
synonym: "spastic ataxia type 2" EXACT [DOID:0050941, MONDORULE:1]
synonym: "SPAX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611302, Orphanet:397946]
synonym: "SPG58" EXACT ABBREVIATION [Orphanet:397946]
xref: DOID:0050941 {source="MONDO:equivalentTo"}
xref: GARD:17644 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:397946/attributed", source="Orphanet:397946/ntbt", source="Orphanet:397946"}
xref: MEDGEN:370750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566969 {source="MONDO:equivalentTo"}
xref: OMIM:611302 {source="Orphanet:397946/e", source="MONDO:equivalentTo", source="DOID:0050941", source="Orphanet:397946"}
xref: Orphanet:397946 {source="MONDO:equivalentTo", source="OMIM:611302"}
xref: UMLS:C1969796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370750"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0017845 {source="DOID:0050941", source="MONDO:Redundant", source="OMIM:611302"} ! spastic ataxia
intersection_of: MONDO:0017845 ! spastic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6317 ! KIF1C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6317 {source="MONDO:mim2gene_medgen"} ! KIF1C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0012652
name: autosomal recessive limb-girdle muscular dystrophy type 2L
def: "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." [Orphanet:206549]
subset: gard_rare {source="GARD:12536", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206549"}
subset: orphanet_rare {source="Orphanet:206549"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANO5 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" EXACT [MONDO:design_pattern]
synonym: "LGMD2L" EXACT ABBREVIATION [DOID:0110284, MONDO:Lexical, OMIM:611307, Orphanet:206549]
synonym: "limb-girdle muscular dystrophy type 2L" RELATED [GARD:0012536]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 12" EXACT [OMIM:611307, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2L" EXACT [DOID:0110284, MONDO:Lexical, OMIM:611307]
xref: DOID:0110284 {source="MONDO:equivalentTo"}
xref: GARD:12536 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:206549/attributed", source="Orphanet:206549/ntbt", source="Orphanet:206549", source="DOID:0110284"}
xref: MEDGEN:370102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566968 {source="MONDO:equivalentTo"}
xref: OMIM:611307 {source="Orphanet:206549", source="MONDO:equivalentTo", source="DOID:0110284", source="Orphanet:206549/e"}
xref: Orphanet:206549 {source="MONDO:equivalentTo", source="DOID:0110284", source="OMIM:611307"}
xref: UMLS:C1969785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370102"}
is_a: MONDO:0015152 {source="DOID:0110284", source="MONDO:Redundant", source="OMIM:611307", source="Orphanet:206549"} ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 ! ANO5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 {source="MONDO:mim2gene_medgen"} ! ANO5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012653
name: persistent hyperplastic primary vitreous, autosomal dominant
subset: gard_rare {source="GARD:18168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "persistent hyperplastic primary vitreous, autosomal dominant" EXACT [MONDO:Lexical, OMIM:611308]
synonym: "PHPVAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611308]
xref: GARD:18168 {source="MONDO:GARD"}
xref: MEDGEN:370101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611308 {source="MONDO:equivalentTo"}
xref: Orphanet:91495 {source="OMIM:611308"}
xref: UMLS:C1969784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370101"}
is_a: MONDO:0019631 {source="DC-OMIM:611308", source="OMIM:611308"} ! persistent hyperplastic primary vitreous

[Term]
id: MONDO:0012654
name: atrial septal defect 4
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15512", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ASD4" EXACT ABBREVIATION [DOID:0110109, MONDO:Lexical, OMIM:611363]
synonym: "atrial heart septal defect caused by mutation in TBX20" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 4" EXACT [DOID:0110109, MONDORULE:1]
synonym: "atrial septal defect 4" EXACT [DOID:0110109, MONDO:Lexical, OMIM:611363]
synonym: "atrial septal defect type 4" EXACT [MONDORULE:1, OMIM:611363]
synonym: "TBX20 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110109 {source="MONDO:equivalentTo"}
xref: GARD:15512 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="DOID:0110109"}
xref: MEDGEN:369556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566963 {source="MONDO:equivalentTo"}
xref: OMIM:611363 {source="DOID:0110109", source="MONDO:equivalentTo"}
xref: Orphanet:1478 {source="OMIM:611363"}
xref: UMLS:C1969657 {source="MEDGEN:369556", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006664 {source="DC-OMIM:611363", source="DOID:0110109", source="MESH:C566963", source="MONDO:Redundant", source="OMIM:611363"} ! atrial septal defect
intersection_of: MONDO:0006664 ! atrial septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11598 ! TBX20
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11598 {source="MONDO:mim2gene_medgen"} ! TBX20

[Term]
id: MONDO:0012655
name: myoclonic epilepsy, juvenile, susceptibility to, 4
subset: predisposition
synonym: "EJM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611364]
synonym: "myoclonic epilepsy, juvenile, 4" EXACT [OMIM:611364, OMIM:genemap2]
synonym: "myoclonic epilepsy, juvenile, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:611364]
xref: DOID:0111327 {source="MONDO:equivalentTo"}
xref: MEDGEN:370067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611364 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="OMIM:611364"}
xref: UMLS:C1969656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370067"}
is_a: MONDO:0020573 {source="OMIM:611364"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0009696 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile myoclonic epilepsy
relationship: predisposes_towards MONDO:0009696 {source="OMIM:611364"} ! juvenile myoclonic epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012656
name: lethal congenital contracture syndrome 3
def: "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." [Orphanet:137783]
subset: gard_rare {source="GARD:12644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137783"}
subset: ordo_malformation_syndrome {source="Orphanet:137783"}
subset: orphanet_rare {source="Orphanet:137783"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Israeli Bedouin type B multiple contracture syndrome" EXACT [DOID:0060653]
synonym: "LCCS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611369, Orphanet:137783]
synonym: "lethal congenital contractural syndrome 3" EXACT [OMIM:611369, OMIM:genemap2]
synonym: "lethal congenital contracture syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:611369]
synonym: "lethal congenital contracture syndrome caused by mutation in PIP5K1C" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 3" EXACT [DOID:0060653, MONDORULE:1, OMIM:611369]
synonym: "multiple contracture syndrome, Israeli Bedouin type B" RELATED [OMIM:611369]
synonym: "PIP5K1C lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060653 {source="MONDO:equivalentTo"}
xref: GARD:12644 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="DOID:0060653", source="Orphanet:137783/attributed", source="Orphanet:137783/ntbt", source="Orphanet:137783"}
xref: MEDGEN:369555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566961 {source="MONDO:equivalentTo"}
xref: OMIM:611369 {source="Orphanet:137783/e", source="MONDO:equivalentTo", source="Orphanet:137783"}
xref: Orphanet:137783 {source="DOID:0060653", source="MONDO:equivalentTo", source="OMIM:611369"}
xref: SCTID:715420005 {source="MONDO:equivalentTo"}
xref: UMLS:C1969655 {source="MEDGEN:369555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:137783"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0017436 {source="DC-OMIM:611369", source="DOID:0060653", source="MONDO:Redundant", source="OMIM:611369", source="Orphanet:137783"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8996 ! PIP5K1C
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8996 {source="MONDO:mim2gene_medgen"} ! PIP5K1C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3" xsd:anyURI {source="GARD:0012644"}

[Term]
id: MONDO:0012657
name: Mungan syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "MGS" EXACT ABBREVIATION [OMIM:611376]
synonym: "MUNGAN syndrome" EXACT [MONDO:Lexical, OMIM:611376]
synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687]
synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett oesophagus and cardiac abnormalities" RELATED OMO:0003005 []
synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities" RELATED [OMIM:611376]
synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett oesophagus and Cardiac abnormalities" RELATED OMO:0003005 []
synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687]
synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett oesophagus and cardiac abnormalities" RELATED OMO:0003005 []
synonym: "visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities" RELATED [OMIM:611376]
xref: MEDGEN:369554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548078 {source="MONDO:equivalentTo"}
xref: OMIM:611376 {source="MONDO:equivalentTo"}
xref: UMLS:C1969653 {source="MEDGEN:369554", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012658
name: brachydactyly type B2
def: "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." [Orphanet:140908]
subset: gard_rare {source="GARD:16963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:140908"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:140908"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDB2" EXACT ABBREVIATION [DOID:0110975, MONDO:Lexical, OMIM:611377]
synonym: "brachydactyly, type B2" RELATED [MONDO:Lexical, OMIM:611377]
xref: DOID:0110975 {source="MONDO:equivalentTo"}
xref: GARD:16963 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="DOID:0110975", source="Orphanet:140908", source="Orphanet:140908/attributed", source="Orphanet:140908/ntbt"}
xref: MEDGEN:409880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611377 {source="DOID:0110975", source="MONDO:equivalentTo", source="Orphanet:140908", source="Orphanet:140908/e"}
xref: Orphanet:140908 {source="DOID:0110975", source="OMIM:611377", source="MONDO:equivalentTo"}
xref: SCTID:770406002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"}
xref: UMLS:C1969652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409880"}
is_a: MONDO:0019676 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type B
is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder
intersection_of: MONDO:0019676 ! brachydactyly type B
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG
relationship: excluded_subClassOf MONDO:0019066 {source="Orphanet:140908", source="Orphanet:140908/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with brachydactyly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3709" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:string

[Term]
id: MONDO:0012659
name: age related macular degeneration 9
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 9" EXACT [DOID:0110021, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in C3" EXACT [MONDO:design_pattern]
synonym: "ARMD9" EXACT ABBREVIATION [DOID:0110021, MONDO:Lexical, OMIM:611378]
synonym: "C3 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 9" RELATED [MONDO:Lexical, OMIM:611378]
synonym: "macular Degeneration, age-related, type 9" EXACT [MONDORULE:1, OMIM:611378]
xref: DOID:0110021 {source="MONDO:equivalentTo"}
xref: MEDGEN:370717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566958 {source="MONDO:equivalentTo"}
xref: OMIM:611378 {source="MONDO:equivalentTo", source="DOID:0110021"}
xref: UMLS:C1969651 {source="MONDO:equivalentTo", source="MEDGEN:370717", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:611378", source="DOID:0110021", source="MONDO:Redundant", source="OMIM:611378"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 ! C3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 {source="MONDO:mim2gene_medgen"} ! C3

[Term]
id: MONDO:0012660
name: susceptibility to visceral leishmaniasis, 2
subset: predisposition
synonym: "kala-AZAR, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:611381]
synonym: "KAZA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611381]
synonym: "leishmaniasis, visceral, susceptibility to, 2" RELATED [OMIM:611381]
xref: MEDGEN:409879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611381 {source="MONDO:equivalentTo"}
xref: UMLS:C1969649 {source="MEDGEN:409879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:611381"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005445 {source="OMIM:611381", source="https://orcid.org/0000-0001-5208-3432"} ! visceral leishmaniasis
relationship: predisposes_towards MONDO:0005445 {source="OMIM:611381"} ! visceral leishmaniasis

[Term]
id: MONDO:0012661
name: susceptibility to visceral leishmaniasis, 3
subset: predisposition
synonym: "kala-AZAR, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:611382]
synonym: "KAZA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611382]
synonym: "leishmaniasis, visceral, susceptibility to, 3" RELATED [OMIM:611382]
xref: MEDGEN:370066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611382 {source="MONDO:equivalentTo"}
xref: UMLS:C1969648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370066"}
is_a: MONDO:0020573 {source="OMIM:611382"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005445 {source="OMIM:611382", source="https://orcid.org/0000-0001-5208-3432"} ! visceral leishmaniasis
relationship: predisposes_towards MONDO:0005445 {source="OMIM:611382"} ! visceral leishmaniasis

[Term]
id: MONDO:0012662
name: Usher syndrome type 2D
def: "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15514", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "USH2D" EXACT ABBREVIATION [DOID:0110840, MONDO:Lexical, OMIM:611383]
synonym: "Usher syndrome caused by mutation in WHRN" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type 2D" EXACT CLINGEN_LABEL []
synonym: "Usher syndrome type IID" EXACT [DOID:0110840]
synonym: "Usher syndrome, type 2D" RELATED [OMIM:611383]
synonym: "USHER syndrome, type IID" RELATED [MONDO:Lexical, OMIM:611383]
synonym: "WHRN Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110840 {source="MONDO:equivalentTo"}
xref: GARD:15514 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110840"}
xref: MEDGEN:292821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611383 {source="MONDO:equivalentTo", source="DOID:0110840"}
xref: Orphanet:231178 {source="OMIM:611383"}
xref: Orphanet:886 {source="OMIM:611383"}
xref: UMLS:C1568249 {source="MEDGEN:292821", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016484 {source="DOID:0110840"} ! Usher syndrome type 2
is_a: MONDO:0019501 {source="DOID:0110840/inferred", source="MONDO:Redundant", source="OMIM:611383"} ! Usher syndrome
intersection_of: MONDO:0019501 ! Usher syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16361 ! WHRN
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:611383"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16361 {source="MONDO:mim2gene_medgen"} ! WHRN

[Term]
id: MONDO:0012663
name: obsolete Plasmodium falciparum fever episodes quantitative trait locus 1
synonym: "malaria fever episodes quantitative trait locus 1" RELATED [OMIM:611384]
synonym: "Pffe1" RELATED [OMIM:611384]
synonym: "plasmodium falciparum fever episodes QTL1" EXACT [OMIM:611384, OMIM:genemap2]
synonym: "Plasmodium falciparum fever episodes quantitative trait locus 1" EXACT [OMIM:611384]
synonym: "Plasmodium falciparum fever episodes quantitative trait locus type 1" EXACT [MONDORULE:1, OMIM:611384]
xref: OMIM:611384 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeTrait"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0012664
name: spastic ataxia 3
def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314603"}
subset: orphanet_rare {source="Orphanet:314603"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARSAL" EXACT ABBREVIATION [Orphanet:314603]
synonym: "autosomal recessive spastic ataxia caused by mutation in MARS2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic ataxia type 3" EXACT [Orphanet:314603]
synonym: "autosomal recessive spastic ataxia with leukoencephalopathy" RELATED [OMIM:611390]
synonym: "MARS2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic ataxia 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611390]
synonym: "spastic ataxia type 3" EXACT [DOID:0050942, MONDORULE:1]
synonym: "SPAX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611390, Orphanet:314603]
xref: DOID:0050942 {source="MONDO:equivalentTo"}
xref: GARD:17425 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:314603/attributed", source="Orphanet:314603/ntbt", source="MONDO:relatedTo", source="Orphanet:314603"}
xref: MEDGEN:370715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566956 {source="MONDO:equivalentTo"}
xref: OMIM:611390 {source="Orphanet:314603", source="DOID:0050942", source="MONDO:equivalentTo", source="Orphanet:314603/e"}
xref: Orphanet:314603 {source="MONDO:equivalentTo", source="OMIM:611390"}
xref: UMLS:C1969645 {source="MEDGEN:370715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0017845 {source="DOID:0050942", source="MONDO:Redundant", source="OMIM:611390", source="Orphanet:314603/inferred"} ! spastic ataxia
is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:314603"} ! autosomal recessive spastic ataxia
intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 ! MARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 {source="MONDO:mim2gene_medgen"} ! MARS2

[Term]
id: MONDO:0012665
name: cataract 33
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BFSP1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cataract 33" EXACT [MONDO:Lexical, OMIM:611391]
synonym: "cataract 33, cortical" RELATED [OMIM:611391]
synonym: "cataract 33, multiple types" RELATED [OMIM:611391]
synonym: "cataract type 33" EXACT [DOID:0110264, MONDORULE:2, OMIM:611391]
synonym: "cortical cataract 33" NARROW [DOID:0110264]
synonym: "CTRCT33" EXACT ABBREVIATION [DOID:0110264, MONDO:Lexical, OMIM:611391]
synonym: "early-onset non-syndromic cataract caused by mutation in BFSP1" EXACT [MONDO:design_pattern]
xref: DOID:0110264 {source="MONDO:equivalentTo"}
xref: GARD:18236 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110264"}
xref: MEDGEN:814437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566955 {source="MONDO:equivalentTo"}
xref: OMIM:611391 {source="MONDO:equivalentTo", source="DOID:0110264"}
xref: Orphanet:217046 {source="MONDO:equivalentObsolete", source="OMIM:611391"}
xref: Orphanet:217052 {source="MONDO:equivalentObsolete", source="OMIM:611391"}
xref: UMLS:C3808107 {source="MEDGEN:814437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110264", source="MESH:C566955", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:611391"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1040 ! BFSP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1040 {source="MONDO:mim2gene_medgen"} ! BFSP1

[Term]
id: MONDO:0012666
name: asthma-related traits, susceptibility to, 6
subset: predisposition
synonym: "ASRT6" RELATED ABBREVIATION [OMIM:611403]
synonym: "asthma-related traits, susceptibility to, 6" EXACT [OMIM:611403]
synonym: "asthma-related traits, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:611403]
xref: MEDGEN:409877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611403 {source="MONDO:equivalentTo"}
xref: UMLS:C1969640 {source="MEDGEN:409877", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010940 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma

[Term]
id: MONDO:0012667
name: dilated cardiomyopathy 1W
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15515", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1W" RELATED [MONDO:Lexical, OMIM:611407]
synonym: "cardiomyopathy, dilated, type 1W" EXACT [MONDORULE:4, OMIM:611407]
synonym: "CMD1W" EXACT ABBREVIATION [DOID:0110446, MONDO:Lexical, OMIM:611407]
synonym: "dilated cardiomyopathy type 1W" EXACT [DOID:0110446, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern]
synonym: "VCL familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110446 {source="MONDO:equivalentTo"}
xref: GARD:15515 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110446"}
xref: MEDGEN:370063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566954 {source="MONDO:equivalentTo"}
xref: OMIM:611407 {source="DOID:0110446", source="MONDO:equivalentTo"}
xref: UMLS:C1969639 {source="MONDO:equivalentTo", source="MEDGEN:370063", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:611407"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12665 {source="MONDO:mim2gene_medgen"} ! VCL

[Term]
id: MONDO:0012668
name: Tented eyebrows
synonym: "Tented eyebrows" EXACT [OMIM:611426]
xref: MEDGEN:370710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611426 {source="MONDO:equivalentTo"}
xref: UMLS:C1969624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370710"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012669
name: Legius syndrome
def: "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling." [Orphanet:137605]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137605"}
subset: ordo_malformation_syndrome {source="Orphanet:137605"}
subset: orphanet_rare {source="Orphanet:137605"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Legius syndrome" EXACT CLINGEN_LABEL [OMIM:611431]
synonym: "neurofibromatosis 1-like syndrome" EXACT [Orphanet:137605]
synonym: "neurofibromatosis type 1 like syndrome" RELATED [GARD:0010714]
synonym: "neurofibromatosis type 1-like syndrome" RELATED [OMIM:611431]
synonym: "NF1-like syndrome" EXACT [Orphanet:137605]
xref: DOID:0070484 {source="MONDO:equivalentTo"}
xref: GARD:10714 {source="MONDO:GARD"}
xref: ICD10CM:Q85.0 {source="Orphanet:137605", source="Orphanet:137605/attributed", source="Orphanet:137605/ntbt"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:370709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548032 {source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"}
xref: NCIT:C176941 {source="MONDO:equivalentTo"}
xref: OMIM:611431 {source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"}
xref: Orphanet:137605 {source="OMIM:611431", source="MONDO:equivalentTo"}
xref: SCTID:703541007 {source="MONDO:equivalentTo"}
xref: UMLS:C1969623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370709"}
is_a: MONDO:0019289 {source="Orphanet:137605"} ! hyperpigmentation of the skin
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0020297 {source="https://orcid.org/0000-0001-6671-2252", source="https://orcid.org/0000-0001-7736-9672", source="https://orcid.org/0000-0001-8200-1733", source="https://orcid.org/0000-0001-9069-3901", source="https://orcid.org/0000-0002-0146-4881", source="https://orcid.org/0000-0002-2635-9172", source="https://orcid.org/0000-0002-2827-6880", source="https://orcid.org/0000-0002-5791-6891", source="https://orcid.org/0000-0002-6559-2858", source="https://orcid.org/0000-0003-1348-7738", source="https://orcid.org/0000-0003-1618-9269", source="https://orcid.org/0000-0003-1719-7228", source="https://orcid.org/0000-0003-2840-1511", source="https://orcid.org/0000-0003-2890-7483"} ! Noonan syndrome and Noonan-related syndrome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20249 {source="MONDO:mim2gene_medgen"} ! SPRED1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome" xsd:anyURI {source="GARD:0010714"}

[Term]
id: MONDO:0012670
name: autosomal recessive nonsyndromic hearing loss 63
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive deafness 63" NARROW [DOID:0110515]
synonym: "autosomal recessive nonsyndromic deafness 63" NARROW [OMIM:611451]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 63" NARROW [DOID:0110515, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 63" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 63" NARROW [MONDO:Lexical, OMIM:611451, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 63" NARROW [MONDORULE:2, OMIM:611451]
synonym: "DFNB63" NARROW ABBREVIATION [DOID:0110515, MONDO:Lexical, OMIM:611451]
synonym: "LRTOMT autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110515 {source="MONDO:equivalentTo"}
xref: GARD:22627 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110515"}
xref: MEDGEN:409872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566951 {source="MONDO:equivalentTo"}
xref: OMIM:611451 {source="DOID:0110515", source="MONDO:equivalentTo"}
xref: UMLS:C1969621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409872"}
is_a: MONDO:0019588 {source="DC-OMIM:611451", source="DOID:0110515", source="MONDO:Redundant", source="OMIM:611451"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25033 ! LRTOMT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25033 {source="MONDO:mim2gene_medgen"} ! LRTOMT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012671
name: tremor, hereditary essential, 3
synonym: "essential tremor, hereditary, 3" EXACT [OMIM:611456, OMIM:genemap2]
synonym: "ETM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611456]
synonym: "tremor, hereditary essential, 3" EXACT [MONDO:Lexical, OMIM:611456]
xref: DOID:0111430 {source="MONDO:equivalentTo"}
xref: MEDGEN:409870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566949 {source="MONDO:equivalentTo"}
xref: OMIM:611456 {source="MONDO:equivalentTo"}
xref: Orphanet:862 {source="OMIM:611456"}
xref: UMLS:C1969617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409870"}
is_a: MONDO:0003233 {source="DC-OMIM:611456", source="MESH:C566949", source="OMIM:611456"} ! essential tremor
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012672
name: cholelithiasis
def: "The presence of calculi in the gallbladder." [NCIT:C122822]
subset: otar {source="MONDO:OTAR"}
synonym: "gallbladder disease 4" RELATED [MONDO:Lexical, OMIM:611465]
synonym: "gallbladder disease type 4" EXACT [MONDORULE:1, OMIM:611465]
synonym: "gallstones" BROAD [NCIT:C122822]
synonym: "GBD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611465]
xref: DOID:10211 {source="MONDO:equivalentTo", source="EFO:0004799"}
xref: EFO:0004799 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:574 {source="EFO:0004799"}
xref: ICD9:574.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:574.5 {source="DOID:10211"}
xref: MEDGEN:3039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002769 {source="MONDO:equivalentTo", source="EFO:0004799"}
xref: NCIT:C122822 {source="MONDO:equivalentTo"}
xref: OMIM:611465 {source="MONDO:equivalentTo", source="EFO:0004799"}
xref: SCTID:197397004 {source="DOID:10211"}
xref: SCTID:266474003 {source="MONDO:equivalentTo"}
xref: SCTID:266475002 {source="DOID:10211"}
xref: UMLS:C0008350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3039"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005281 {source="DC-OMIM:611465", source="DOID:10211", source="MONDO:Redundant", source="NCIT:C122822/inferred", source="OMIM:611465"} ! gallbladder disorder
is_a: MONDO:0006026 {source="EFO:0004799"} ! urinary bladder disorder
relationship: disease_has_location UBERON:0002110 {source="EFO:0000784"} ! gallbladder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13887 {source="MONDO:mim2gene_medgen"} ! ABCG8

[Term]
id: MONDO:0012673
name: colorectal cancer, susceptibility to, 2
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal cancer, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:611469]
synonym: "colorectal cancer, susceptibility to, on chromosome 8Q24" RELATED [OMIM:611469]
synonym: "CRCS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611469]
xref: MEDGEN:369417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611469 {source="MONDO:equivalentTo"}
xref: UMLS:C1969113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369417"}
is_a: MONDO:0020573 {source="DC-OMIM:611469", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005575 {source="DC-OMIM:611469", source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
relationship: predisposes_towards MONDO:0005575 {source="DC-OMIM:611469"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012674
name: age related macular degeneration 10
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 10" EXACT [DOID:0110022, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in TLR4" EXACT [MONDO:design_pattern]
synonym: "ARMD10" EXACT ABBREVIATION [DOID:0110022, MONDO:Lexical, OMIM:611488]
synonym: "macular degeneration, age-related, 10" RELATED [MONDO:Lexical, OMIM:611488]
synonym: "macular Degeneration, age-related, type 10" EXACT [MONDORULE:2, OMIM:611488]
synonym: "TLR4 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110022 {source="MONDO:equivalentTo"}
xref: MEDGEN:409758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566935 {source="MONDO:equivalentTo"}
xref: OMIM:611488 {source="MONDO:equivalentTo", source="DOID:0110022"}
xref: UMLS:C1969108 {source="MEDGEN:409758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:611488", source="DOID:0110022", source="MONDO:Redundant", source="OMIM:611488"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11850 ! TLR4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11850 {source="MONDO:mim2gene_medgen"} ! TLR4

[Term]
id: MONDO:0012675
name: corticosteroid-binding globulin deficiency
def: "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." [https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency]
subset: gard_rare {source="GARD:13101", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199247"}
subset: orphanet_rare {source="Orphanet:199247"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CBG deficiency" EXACT [DOID:0090030]
synonym: "Cbg deficiency" RELATED [OMIM:611489]
synonym: "corticosteroid-binding globulin deficiency" EXACT [OMIM:611489]
synonym: "corticosteroid-binding globulin, elevated" RELATED [OMIM:611489]
synonym: "Transcortin deficiency" EXACT [OMIM:611489, Orphanet:199247]
synonym: "transcortin deficiency" EXACT [DOID:0090030]
xref: DOID:0090030 {source="MONDO:equivalentTo"}
xref: GARD:13101 {source="MONDO:GARD"}
xref: ICD10CM:E27.8 {source="DOID:0090030", source="Orphanet:199247", source="Orphanet:199247/attributed", source="Orphanet:199247/ntbt"}
xref: MEDGEN:343831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611489 {source="DOID:0090030", source="MONDO:equivalentTo", source="Orphanet:199247", source="Orphanet:199247/e"}
xref: Orphanet:199247 {source="DOID:0090030", source="MONDO:equivalentTo", source="OMIM:611489"}
xref: UMLS:C1852529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343831"}
is_a: MONDO:0005495 {source="Orphanet:199247"} ! adrenal gland disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1540 {source="MONDO:mim2gene_medgen"} ! SERPINA6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency" xsd:anyURI {source="GARD:0013101"}

[Term]
id: MONDO:0012676
name: autosomal recessive osteopetrosis 4
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5993", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive osteopetrosis caused by mutation in CLCN7" EXACT []
synonym: "autosomal recessive osteopetrosis type 4" EXACT [DOID:0110944, MONDORULE:1]
synonym: "CLCN7 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern]
synonym: "CLCN7 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CLCN7-related osteopetrosis" EXACT [https://clinicalgenome.org/affiliation/40065/]
synonym: "infantile malignant osteopetrosis 2" EXACT [DOID:0110944]
synonym: "OPTB4" EXACT ABBREVIATION [DOID:0110944, MONDO:Lexical, OMIM:611490]
synonym: "osteopetrosis autosomal recessive 4" RELATED [GARD:0005993]
synonym: "osteopetrosis infantile malignant 2" RELATED [GARD:0005993]
synonym: "osteopetrosis, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:611490]
synonym: "osteopetrosis, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:611490]
synonym: "osteopetrosis, infantile malignant 2" RELATED [OMIM:611490]
xref: DOID:0110944 {source="MONDO:equivalentTo"}
xref: GARD:5993 {source="MONDO:GARD"}
xref: MEDGEN:370598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566933 {source="MONDO:equivalentTo"}
xref: OMIM:611490 {source="DOID:0110944", source="MONDO:equivalentTo"}
xref: Orphanet:667 {source="OMIM:611490"}
xref: UMLS:C1969106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370598"}
is_a: MONDO:0017198 {source="DOID:0110944", source="MONDO:0012676/inferred", source="MONDO:Redundant", source="OMIM:611490", source="PMID:31633310"} ! osteopetrosis
is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis
intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2025 ! CLCN7
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2025 {source="MONDO:mim2gene_medgen"} ! CLCN7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7165" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4" xsd:anyURI {source="GARD:0005993"}

[Term]
id: MONDO:0012677
name: atrial fibrillation, familial, 4
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15516", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ATFB4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611493]
synonym: "atrial fibrillation, familial, 4" EXACT [MONDO:Lexical, OMIM:611493]
synonym: "atrial fibrillation, familial, type 4" EXACT [MONDORULE:1, OMIM:611493]
synonym: "familial atrial fibrillation caused by mutation in KCNE2" EXACT [MONDO:design_pattern]
synonym: "KCNE2 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15516 {source="MONDO:GARD"}
xref: MEDGEN:400041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566244 {source="MONDO:equivalentTo"}
xref: OMIM:611493 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:611493"}
xref: UMLS:C1862394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400041"}
is_a: MONDO:0018054 {source="DC-OMIM:611493", source="MONDO:Redundant", source="OMIM:611493"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6242 ! KCNE2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6242 {source="MONDO:mim2gene_medgen"} ! KCNE2

[Term]
id: MONDO:0012678
name: atrial fibrillation, familial, 5
subset: gard_rare {source="GARD:15517", source="MONDO:GARD"}
subset: rare
synonym: "ATFB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611494]
synonym: "atrial fibrillation, familial, 5" EXACT [MONDO:Lexical, OMIM:611494]
xref: GARD:15517 {source="MONDO:GARD"}
xref: MEDGEN:369411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566932 {source="MONDO:equivalentTo"}
xref: OMIM:611494 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:611494"}
xref: UMLS:C1969099 {source="MEDGEN:369411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:611494", source="OMIM:611494"} ! familial atrial fibrillation

[Term]
id: MONDO:0012679
name: autosomal recessive osteopetrosis 6
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4156", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210110"}
subset: ordo_malformation_syndrome {source="Orphanet:210110"}
subset: orphanet_rare {source="Orphanet:210110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive intermediate osteopetrosis" EXACT [Orphanet:210110]
synonym: "autosomal recessive osteopetrosis intermediate form" EXACT [DOID:0110945]
synonym: "autosomal recessive osteopetrosis type 6" EXACT [DOID:0110945, MONDORULE:1]
synonym: "intermediate osteopetrosis" RELATED [Orphanet:210110]
synonym: "OPTB6" EXACT ABBREVIATION [DOID:0110945, MONDO:Lexical, OMIM:611497]
synonym: "osteopetrosis (disease) caused by mutation in PLEKHM1" EXACT []
synonym: "osteopetrosis autosomal recessive 6" RELATED [GARD:0004156]
synonym: "osteopetrosis autosomal recessive intermediate form" RELATED [GARD:0004156]
synonym: "osteopetrosis, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:611497]
synonym: "osteopetrosis, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:611497]
synonym: "osteopetrosis, autosomal recessive, Intermediate form" RELATED [OMIM:611497]
synonym: "PLEKHM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110945 {source="MONDO:equivalentTo"}
xref: GARD:4156 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:210110", source="Orphanet:210110/attributed", source="Orphanet:210110/ntbt"}
xref: MEDGEN:409754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566931 {source="MONDO:equivalentTo"}
xref: OMIM:611497 {source="Orphanet:210110", source="DOID:0110945", source="MONDO:equivalentTo", source="Orphanet:210110/e"}
xref: Orphanet:210110 {source="OMIM:611497", source="MONDO:equivalentTo"}
xref: UMLS:C1969093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409754"}
is_a: MONDO:0017198 {source="DC-OMIM:611497", source="DOID:0110945", source="MONDO:Redundant", source="OMIM:611497", source="Orphanet:210110", source="PMID:31633310"} ! osteopetrosis
intersection_of: MONDO:0017198 ! osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29017 ! PLEKHM1
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29017 {source="MONDO:mim2gene_medgen"} ! PLEKHM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6" xsd:anyURI {source="GARD:0004156"}

[Term]
id: MONDO:0012680
name: nephronophthisis 7
def: "Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GLIS2 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in GLIS2" EXACT []
synonym: "nephronophthisis 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:611498]
synonym: "nephronophthisis type 7" EXACT [DOID:0111116, MONDORULE:1, OMIM:611498]
synonym: "NPHP7" EXACT ABBREVIATION [DOID:0111116, MONDO:Lexical, OMIM:611498]
xref: DOID:0111116 {source="MONDO:equivalentTo"}
xref: MEDGEN:369409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566930 {source="MONDO:equivalentTo"}
xref: OMIM:611498 {source="DOID:0111116", source="MONDO:equivalentTo"}
xref: Orphanet:655 {source="OMIM:611498"}
xref: UMLS:C1969092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369409"}
is_a: MONDO:0019005 {source="DC-OMIM:611498", source="DOID:0111116", source="MONDO:Redundant", source="OMIM:611498"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29450 ! GLIS2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:611498"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29450 {source="MONDO:mim2gene_medgen"} ! GLIS2

[Term]
id: MONDO:0012681
name: febrile seizures, familial, 7
synonym: "FEB7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611515]
synonym: "febrile convulsions, familial, 7" RELATED [OMIM:611515]
synonym: "febrile seizures, familial, 7" EXACT [MONDO:Lexical, OMIM:611515]
xref: DOID:0111311 {source="MONDO:equivalentTo"}
xref: MEDGEN:369406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566929 {source="MONDO:equivalentTo"}
xref: OMIM:611515 {source="MONDO:equivalentTo"}
xref: UMLS:C1969087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369406"}
is_a: MONDO:0000032 {source="DC-OMIM:611515", source="OMIM:611515"} ! febrile seizures, familial
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease

[Term]
id: MONDO:0012682
name: immunodeficiency 35
def: "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene." [MONDO:patterns/disease_series_by_gene]
comment: OMIM has the synonym hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive but the clinical description does not suggest that this is a type of hyper-IgE syndrome. Some patients presented with hyper-IgE syndrome, whereas one had mildly increased serum IgE.
subset: gard_rare {source="GARD:17514", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:331226"}
subset: orphanet_rare {source="Orphanet:331226"}
subset: predisposition
subset: rare
synonym: "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" EXACT [Orphanet:331226]
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "HIES with atypical Mycobacteriosis, autosomal recessive" EXACT [OMIM:611521]
synonym: "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive" EXACT [OMIM:611521]
synonym: "IMD35" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611521]
synonym: "immunodeficiency 35" EXACT [MONDO:Lexical, OMIM:611521]
synonym: "immunodeficiency type 35" EXACT [MONDORULE:2, OMIM:611521]
synonym: "susceptibility to infection due to TYK2 deficiency" EXACT []
synonym: "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "TYK2 deficiency" EXACT [OMIM:611521]
synonym: "tyrosine kinase 2 deficiency" EXACT [OMIM:611521]
xref: DOID:0111989 {source="MONDO:equivalentTo"}
xref: GARD:17514 {source="MONDO:GARD"}
xref: ICD10CM:D82.4 {source="Orphanet:331226", source="Orphanet:331226/attributed", source="Orphanet:331226/ntbt"}
xref: MEDGEN:409751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566928 {source="MONDO:equivalentTo"}
xref: OMIM:611521 {source="MONDO:equivalentTo", source="Orphanet:331226", source="Orphanet:331226/e"}
xref: Orphanet:169446 {source="OMIM:611521"}
xref: Orphanet:331226 {source="OMIM:611521", source="MONDO:equivalentTo"}
xref: UMLS:C1969086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409751"}
is_a: MONDO:0021094 {source="OMIM:611521", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12440 {source="MONDO:mim2gene_medgen"} ! TYK2

[Term]
id: MONDO:0012683
name: pontocerebellar hypoplasia type 6
def: "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." [Orphanet:166073]
subset: gard_rare {source="GARD:10710", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166073"}
subset: ordo_malformation_syndrome {source="Orphanet:166073"}
subset: orphanet_rare {source="Orphanet:166073"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy fatal infantile with mitochondrial respiratory chain defects" RELATED [GARD:0010710]
synonym: "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects" RELATED [OMIM:611523]
synonym: "fatal infantile encephalopathy with mitochondrial respiratory chain defects" EXACT [Orphanet:166073]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2" EXACT [MONDO:design_pattern]
synonym: "PCH6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611523, Orphanet:166073]
synonym: "pontocerebellar hypoplasia type 6" EXACT CLINGEN_LABEL []
synonym: "pontocerebellar hypoplasia, type 6" RELATED [MONDO:Lexical, OMIM:611523]
synonym: "RARS2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060275 {source="MONDO:equivalentTo"}
xref: GARD:10710 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:166073/attributed", source="Orphanet:166073/ntbt", source="Orphanet:166073"}
xref: MEDGEN:370596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548074 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"}
xref: OMIM:611523 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"}
xref: Orphanet:166073 {source="DOID:0060275", source="MONDO:equivalentTo", source="OMIM:611523"}
xref: SCTID:718606005 {source="MONDO:equivalentTo"}
xref: UMLS:C1969084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370596"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020135 {source="DC-OMIM:611523", source="DOID:0060275", source="MONDO:Redundant", source="OMIM:611523", source="Orphanet:166073"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21406 ! RARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21406 {source="MONDO:mim2gene_medgen"} ! RARS2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6" xsd:anyURI {source="GARD:0010710"}

[Term]
id: MONDO:0012684
name: arrhythmogenic right ventricular dysplasia 12
def: "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy 12" EXACT [DOID:0110083, OMIM:611528]
synonym: "arrhythmogenic right ventricular dysplasia 12" EXACT CLINGEN_LABEL []
synonym: "arrhythmogenic right ventricular dysplasia type 12" EXACT [DOID:0110083, MONDORULE:2]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 12" RELATED [MONDO:Lexical, OMIM:611528]
synonym: "arrhythmogenic right ventricular dysplasia, familial, type 12" EXACT [MONDORULE:2, OMIM:611528]
synonym: "ARVC12" EXACT ABBREVIATION [DOID:0110083]
synonym: "ARVD12" EXACT ABBREVIATION [DOID:0110083, MONDO:Lexical, OMIM:611528]
synonym: "familial arrhythmogenic right ventricular dysplasia 12" EXACT [DOID:0110083]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP" EXACT [MONDO:design_pattern]
synonym: "JUP familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110083 {source="MONDO:equivalentTo"}
xref: ICD10CM:I42.8 {source="DOID:0110083"}
xref: MEDGEN:409749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566925 {source="MONDO:equivalentTo"}
xref: OMIM:611528 {source="MONDO:equivalentTo", source="DOID:0110083"}
xref: Orphanet:217656 {source="OMIM:611528"}
xref: UMLS:C1969081 {source="MEDGEN:409749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016342 {source="DOID:0110083", source="MESH:C566925", source="MONDO:Redundant", source="OMIM:611528", source="Orphanet:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6207 ! JUP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6207 {source="MONDO:mim2gene_medgen"} ! JUP

[Term]
id: MONDO:0012685
name: major affective disorder 5
synonym: "bipolar affective disorder" RELATED [OMIM:611535]
synonym: "MAFD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611535]
synonym: "MAJOR affective disorder 5" RELATED [OMIM:611535]
synonym: "major affective disorder 5" EXACT [OMIM:611535]
xref: MEDGEN:372672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567074 {source="MONDO:equivalentTo"}
xref: OMIM:611535 {source="MONDO:equivalentTo"}
xref: UMLS:C1970944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372672"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:611535", source="MESH:C567074", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder

[Term]
id: MONDO:0012686
name: major affective disorder 6
synonym: "bipolar affective disorder" RELATED [OMIM:611536]
synonym: "MAFD6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611536]
synonym: "MAJOR affective disorder 6" RELATED [OMIM:611536]
synonym: "major affective disorder 6" EXACT [OMIM:611536]
xref: MEDGEN:372673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567075 {source="MONDO:equivalentTo"}
xref: OMIM:611536 {source="MONDO:equivalentTo"}
xref: UMLS:C1970945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372673"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:611536", source="MESH:C567075", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder

[Term]
id: MONDO:0012687
name: familial cavitary optic disk anomaly
subset: gard_rare {source="GARD:17822", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464760"}
subset: ordo_morphological_anomaly {source="Orphanet:464760"}
subset: orphanet_rare {source="Orphanet:464760"}
subset: rare
synonym: "cavitary optic DISC anomalies" RELATED [MONDO:Lexical, OMIM:611543]
synonym: "CODA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611543]
synonym: "familial CODA" EXACT [Orphanet:464760]
xref: GARD:17822 {source="MONDO:GARD"}
xref: MEDGEN:370593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566924 {source="MONDO:equivalentTo"}
xref: OMIM:611543 {source="Orphanet:464760", source="MONDO:equivalentTo", source="Orphanet:464760/e"}
xref: Orphanet:464760 {source="MONDO:equivalentTo"}
xref: UMLS:C1969063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370593"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7165 {source="MONDO:mim2gene_medgen"} ! MMP19
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0012688
name: cataract 17 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive congenital nuclear cataract 3" NARROW [DOID:0110270]
synonym: "cataract 17, multiple types" RELATED [MONDO:Lexical, OMIM:611544]
synonym: "cataract 17, multiple types, with or without microcornea" RELATED [OMIM:611544]
synonym: "cataract, congenital nuclear, autosomal recessive 3" RELATED [OMIM:611544]
synonym: "CATCN3" NARROW ABBREVIATION [DOID:0110270]
synonym: "CRYBB1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT17" EXACT ABBREVIATION [DOID:0110270, MONDO:Lexical, OMIM:611544]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYBB1" EXACT [MONDO:design_pattern]
xref: DOID:0110270 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110270"}
xref: MEDGEN:854781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566923 {source="MONDO:equivalentTo"}
xref: OMIM:611544 {source="MONDO:equivalentTo", source="DOID:0110270"}
xref: Orphanet:91492 {source="OMIM:611544"}
xref: Orphanet:98991 {source="MONDO:relatedTo", source="OMIM:611544"}
xref: UMLS:C3888124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854781"}
is_a: MONDO:0005129 {source="DOID:0110270", source="MESH:C566923", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:611544"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2397 ! CRYBB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2397 {source="MONDO:mim2gene_medgen"} ! CRYBB1

[Term]
id: MONDO:0012689
name: premature ovarian failure 5
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NOBOX primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pof5" RELATED [MONDO:Lexical, OMIM:611548]
synonym: "premature ovarian failure 5" EXACT [MONDO:Lexical, OMIM:611548]
synonym: "premature ovarian failure type 5" EXACT [MONDORULE:1, OMIM:611548]
synonym: "primary ovarian failure caused by mutation in NOBOX" EXACT [MONDO:design_pattern]
xref: DOID:0080862 {source="MONDO:equivalentTo"}
xref: MEDGEN:409743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566921 {source="MONDO:equivalentTo"}
xref: OMIM:611548 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:611548"}
xref: UMLS:C1969060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409743"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:611548", source="MESH:C566921", source="OMIM:611548"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22448 ! NOBOX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22448 {source="MONDO:mim2gene_medgen"} ! NOBOX

[Term]
id: MONDO:0012690
name: Noonan syndrome 5
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Noonan syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:611553]
synonym: "Noonan syndrome caused by mutation in RAF1" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 5" EXACT [DOID:0060583, MONDORULE:1, OMIM:611553]
synonym: "NS5" EXACT ABBREVIATION [DOID:0060583, MONDO:Lexical, OMIM:611553]
synonym: "RAF1 gene related Noonan syndrome" RELATED [GARD:0010700]
synonym: "RAF1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060583 {source="MONDO:equivalentTo"}
xref: GARD:10700 {source="MONDO:GARD"}
xref: MEDGEN:370589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548083 {source="MONDO:equivalentTo"}
xref: NCIT:C176933 {source="MONDO:equivalentTo"}
xref: OMIM:611553 {source="DOID:0060583", source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:611553"}
xref: UMLS:C1969057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370589"}
is_a: MONDO:0018997 {source="DC-OMIM:611553", source="DOID:0060583", source="MESH:C548083", source="MONDO:Redundant", source="OMIM:611553"} ! Noonan syndrome
intersection_of: MONDO:0018997 ! Noonan syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 ! RAF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 {source="MONDO:mim2gene_medgen"} ! RAF1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5" xsd:anyURI {source="GARD:0010700"}

[Term]
id: MONDO:0012691
name: LEOPARD syndrome 2
def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15518", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LEOPARD syndrome 2" EXACT CLINGEN_LABEL [OMIM:611554]
synonym: "leopard syndrome 2" EXACT [MONDO:Lexical, OMIM:611554]
synonym: "Leopard syndrome type 2" EXACT [MONDORULE:1, OMIM:611554]
synonym: "LPRD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611554]
xref: DOID:0080549 {source="MONDO:equivalentTo"}
xref: GARD:15518 {source="MONDO:GARD"}
xref: MEDGEN:370588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537117 {source="MONDO:equivalentTo"}
xref: OMIM:611554 {source="MONDO:equivalentTo"}
xref: Orphanet:500 {source="OMIM:611554"}
xref: UMLS:C1969056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370588"}
is_a: MONDO:0007893 {source="MESH:C537117", source="MONDO:Redundant", source="OMIM:611554", source="Orphanet:500/btnt"} ! Noonan syndrome with multiple lentigines
intersection_of: MONDO:0007893 ! Noonan syndrome with multiple lentigines
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 ! RAF1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:611554"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 {source="MONDO:mim2gene_medgen"} ! RAF1

[Term]
id: MONDO:0012692
name: renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies
synonym: "renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies" EXACT [OMIM:611555]
synonym: "renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies" EXACT DEPRECATED [OMIM:611555]
xref: MEDGEN:370587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566918 {source="MONDO:equivalentTo"}
xref: OMIM:611555 {source="MONDO:equivalentTo"}
xref: UMLS:C1969055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370587"}
is_a: MONDO:0003847 {source="MESH:C566918/inferred"} ! hereditary disease

[Term]
id: MONDO:0012693
name: glycogen storage disease due to muscle and heart glycogen synthase deficiency
def: "A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." [https://orcid.org/0000-0001-5208-3432, Orphanet:137625]
subset: gard_rare {source="GARD:10760", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137625"}
subset: orphanet_rare {source="Orphanet:137625"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease 0, muscle" RELATED [MONDO:Lexical, OMIM:611556]
synonym: "glycogen storage disease due to glycogen synthase deficiency of heart" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease type 0, muscle" RELATED [GARD:0010760]
synonym: "glycogen storage disease type 0b" EXACT [Orphanet:137625]
synonym: "glycogenosis due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625]
synonym: "glycogenosis type 0b" EXACT [Orphanet:137625]
synonym: "GSD 0B" RELATED [OMIM:611556]
synonym: "GSD due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625]
synonym: "GSD type 0b" EXACT [Orphanet:137625]
synonym: "GSD0B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611556]
synonym: "heart glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "muscle glycogen storage disease 0" RELATED [OMIM:611556]
synonym: "muscle glycogen synthase deficiency" RELATED [OMIM:611556]
xref: GARD:10760 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:137625", source="Orphanet:137625/attributed", source="Orphanet:137625/ntbt"}
xref: MEDGEN:409741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566917 {source="MONDO:equivalentTo"}
xref: NANDO:2201152 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:611556 {source="MONDO:equivalentTo", source="Orphanet:137625", source="Orphanet:137625/e"}
xref: Orphanet:137625 {source="MONDO:equivalentTo", source="OMIM:611556"}
xref: SCTID:725027004 {source="MONDO:equivalentTo"}
xref: UMLS:C1969054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409741"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:137625", source="PMID:33340416"} ! disorder of glycogen metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4706 {source="MONDO:mim2gene_medgen"} ! GYS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0012694
name: Joubert syndrome 7
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS7" EXACT ABBREVIATION [DOID:0111002, MONDO:Lexical, OMIM:611560]
synonym: "Joubert syndrome 7" EXACT [MONDO:Lexical, OMIM:611560]
synonym: "Joubert syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 7" EXACT [DOID:0111002, MONDORULE:1, OMIM:611560]
synonym: "RPGRIP1L Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111002 {source="MONDO:equivalentTo"}
xref: GARD:15519 {source="MONDO:GARD"}
xref: MEDGEN:369401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566916 {source="MONDO:equivalentTo"}
xref: NCIT:C159653 {source="MONDO:equivalentTo"}
xref: OMIM:611560 {source="MONDO:equivalentTo", source="DOID:0111002"}
xref: Orphanet:220497 {source="OMIM:611560", source="MONDO:directSiblingOf"}
xref: UMLS:C1969053 {source="MEDGEN:369401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DOID:0111002", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:611560"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 ! RPGRIP1L
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 {source="MONDO:mim2gene_medgen"} ! RPGRIP1L

[Term]
id: MONDO:0012695
name: Meckel syndrome, type 5
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Meckel syndrome 5" RELATED [DOID:0070119]
synonym: "Meckel syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 5" EXACT [MONDO:Lexical, OMIM:611561]
synonym: "Meckel-Gruber syndrome, type 5" EXACT [DOID:0070119]
synonym: "MKS5" EXACT ABBREVIATION [DOID:0070119, MONDO:Lexical, OMIM:611561]
synonym: "RPGRIP1L Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070119 {source="MONDO:equivalentTo"}
xref: GARD:15520 {source="MONDO:GARD"}
xref: ICD10CM:Q61.9 {source="DOID:0070119"}
xref: MEDGEN:409740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566915 {source="MONDO:equivalentTo"}
xref: OMIM:611561 {source="MONDO:equivalentTo", source="DOID:0070119"}
xref: Orphanet:564 {source="OMIM:611561"}
xref: UMLS:C1969052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409740"}
is_a: MONDO:0018921 {source="DC-OMIM:611561", source="DOID:0070119", source="MONDO:Redundant", source="OMIM:611561"} ! Meckel syndrome
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 ! RPGRIP1L
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 {source="MONDO:mim2gene_medgen"} ! RPGRIP1L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012696
name: otosclerosis 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "otosclerosis 4" EXACT [MONDO:Lexical, OMIM:611571]
synonym: "OTSC4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611571]
xref: DOID:0060923 {source="MONDO:equivalentTo"}
xref: MEDGEN:369916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566914 {source="MONDO:equivalentTo"}
xref: OMIM:611571 {source="MONDO:equivalentTo"}
xref: Orphanet:2794 {source="OMIM:611571"}
xref: UMLS:C1969046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369916"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005349 {source="DC-OMIM:611571", source="MESH:C566914", source="OMIM:611571"} ! otosclerosis

[Term]
id: MONDO:0012697
name: otosclerosis 7
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "otosclerosis 7" EXACT [MONDO:Lexical, OMIM:611572]
synonym: "OTSC7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611572]
xref: DOID:0060925 {source="MONDO:equivalentTo"}
xref: MEDGEN:409738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566913 {source="MONDO:equivalentTo"}
xref: OMIM:611572 {source="MONDO:equivalentTo"}
xref: Orphanet:2794 {source="OMIM:611572"}
xref: UMLS:C1969044 {source="MEDGEN:409738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005349 {source="DC-OMIM:611572", source="MESH:C566913", source="OMIM:611572"} ! otosclerosis

[Term]
id: MONDO:0012698
name: Waardenburg syndrome type 2E
def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15521", source="MONDO:GARD"}
subset: rare
synonym: "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" EXACT [DOID:0110956]
synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" RELATED [OMIM:611584]
synonym: "SOX10 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Waardenburg syndrome type 2 caused by mutation in SOX10" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type 2E with or without neurologic involvement" EXACT [DOID:0110956]
synonym: "Waardenburg syndrome type IIE" EXACT [DOID:0110956]
synonym: "Waardenburg syndrome, type 2E" RELATED [MONDO:Lexical, OMIM:611584]
synonym: "Waardenburg syndrome, type 2E, with or without neurologic involvement" RELATED [OMIM:611584]
synonym: "WS2E" EXACT ABBREVIATION [DOID:0110956, MONDO:Lexical, OMIM:611584]
synonym: "WS2E with or without neurological involvement" EXACT [DOID:0110956]
synonym: "Ws2E, with or without neurologic involvement" RELATED [OMIM:611584]
xref: DOID:0110956 {source="MONDO:equivalentTo"}
xref: GARD:15521 {source="MONDO:GARD"}
xref: MEDGEN:398476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611584 {source="DOID:0110956", source="MONDO:equivalentTo"}
xref: Orphanet:3440 {source="OMIM:611584"}
xref: Orphanet:895 {source="OMIM:611584"}
xref: UMLS:C2700405 {source="MONDO:equivalentTo", source="MEDGEN:398476", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="DOID:0110956", source="MONDO:Redundant", source="OMIM:611584"} ! Waardenburg syndrome
is_a: MONDO:0019517 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! Waardenburg syndrome type 2
intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11190 ! SOX10
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:611584"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11190 {source="MONDO:mim2gene_medgen"} ! SOX10

[Term]
id: MONDO:0012699
name: autosomal recessive limb-girdle muscular dystrophy type 2M
def: "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." [Orphanet:206554]
subset: gard_rare {source="GARD:12538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206554"}
subset: orphanet_rare {source="Orphanet:206554"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN" EXACT [MONDO:design_pattern]
synonym: "FKTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD-FKTN related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "LGMD2M" EXACT ABBREVIATION [DOID:0110296, Orphanet:206554]
synonym: "limb-girdle muscular dystrophy type 2M" RELATED [GARD:0012538]
synonym: "MDDGC4" EXACT ABBREVIATION [DOID:0110296, MONDO:Lexical, OMIM:611588]
synonym: "muscular dystrophy, limb-girdle, type 2M" RELATED [OMIM:611588]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [DOID:0110296]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" RELATED [MONDO:Lexical, OMIM:611588]
xref: DOID:0110296 {source="MONDO:equivalentTo"}
xref: GARD:12538 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:206554/attributed", source="Orphanet:206554/ntbt", source="DOID:0110296", source="Orphanet:206554"}
xref: MEDGEN:370585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566912 {source="MONDO:equivalentTo"}
xref: OMIM:611588 {source="Orphanet:206554/e", source="MONDO:equivalentTo", source="DOID:0110296", source="Orphanet:206554"}
xref: Orphanet:206554 {source="MONDO:equivalentTo", source="OMIM:611588", source="DOID:0110296"}
xref: UMLS:C1969040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370585"}
is_a: MONDO:0000173 {source="OMIM:611588"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110296", source="MONDO:Redundant", source="OMIM:611588", source="Orphanet:206554"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0019056 ! neuromuscular disease
is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 ! FKTN
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN

[Term]
id: MONDO:0012700
name: renal tubular acidosis, distal, 4, with hemolytic anemia
def: "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." [Orphanet:93610]
subset: gard_rare {source="GARD:12354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93610"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal renal tubular acidosis 4 with hemolytic anaemia" EXACT OMO:0003005 []
synonym: "distal renal tubular acidosis 4 with hemolytic anemia" EXACT [OMIM:611590, OMIM:genemap2]
synonym: "distal renal tubular acidosis with anaemia" EXACT OMO:0003005 []
synonym: "distal renal tubular acidosis with anemia" EXACT [Orphanet:93610]
synonym: "dRTA with anaemia" EXACT OMO:0003005 []
synonym: "dRTA with anemia" EXACT [Orphanet:93610]
synonym: "renal tubular acidosis, distal, with hemolytic anaemia" RELATED OMO:0003005 []
synonym: "renal tubular acidosis, distal, with hemolytic anemia" RELATED [OMIM:611590]
synonym: "renal tubular acidosis, distal, with normal Red cell morphology" RELATED [OMIM:611590]
synonym: "RTA, distal, autosomal recessive, with hemolytic Anaemia" RELATED OMO:0003005 []
synonym: "RTA, distal, autosomal recessive, with hemolytic Anemia" RELATED [OMIM:611590]
xref: GARD:12354 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:93610", source="Orphanet:93610/attributed", source="Orphanet:93610/ntbt"}
xref: MEDGEN:1771439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611590 {source="MONDO:equivalentTo", source="Orphanet:93610", source="Orphanet:93610/e"}
xref: Orphanet:18 {source="OMIM:611590"}
xref: Orphanet:93610 {source="MONDO:equivalentTo", source="OMIM:611590"}
xref: UMLS:C5436235 {source="MEDGEN:1771439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0015827 {source="Orphanet:93610"} ! distal renal tubular acidosis
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012701
name: cataract 12 multiple types
def: "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." [DOID:0110239, PMID:10729115]
subset: otar {source="MONDO:OTAR"}
synonym: "cataract 12, multiple types" RELATED [MONDO:Lexical, OMIM:611597]
synonym: "CTRCT12" EXACT ABBREVIATION [DOID:0110239, MONDO:Lexical, OMIM:611597]
xref: DOID:0110239 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110239"}
xref: MEDGEN:814445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566909 {source="MONDO:equivalentTo"}
xref: OMIM:611597 {source="DOID:0110239", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="MONDO:relatedTo", source="OMIM:611597"}
xref: Orphanet:98992 {source="MONDO:relatedTo", source="OMIM:611597"}
xref: UMLS:C3808115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814445"}
is_a: MONDO:0005129 {source="DOID:0110239", source="MESH:C566909", source="MONDO:DOID", source="OMIM:611597"} ! cataract
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1041 {source="MONDO:mim2gene_medgen"} ! BFSP2

[Term]
id: MONDO:0012702
name: celiac disease, susceptibility to, 6
subset: predisposition
synonym: "autoimmune disease, susceptibility to, 5" RELATED [OMIM:611598]
synonym: "celiac disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:611598]
synonym: "CELIAC6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611598]
synonym: "gluten-sensitive enteropathy, susceptibility to, 6" RELATED [OMIM:611598]
xref: MEDGEN:369397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611598 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:611598"}
xref: UMLS:C1969030 {source="MEDGEN:369397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:611598", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="OMIM:611598", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:611598"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012703
name: lissencephaly due to TUBA1A mutation
def: "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." [Orphanet:171680]
subset: gard_rare {source="GARD:17066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171680"}
subset: ordo_malformation_syndrome {source="Orphanet:171680"}
subset: orphanet_rare {source="Orphanet:171680"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LIS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611603]
synonym: "lissencephaly 3" EXACT [MONDO:Lexical, OMIM:611603]
xref: GARD:17066 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:171680/attributed", source="Orphanet:171680/ntbt", source="Orphanet:171680"}
xref: MEDGEN:930822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566908 {source="MONDO:equivalentTo"}
xref: NCIT:C148461 {source="MONDO:equivalentTo"}
xref: OMIM:611603 {source="Orphanet:171680", source="MONDO:equivalentTo", source="Orphanet:171680/e"}
xref: Orphanet:171680 {source="MONDO:equivalentTo", source="OMIM:611603"}
xref: UMLS:C4305153 {source="MEDGEN:930822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015148 ! lissencephaly type 3
is_a: MONDO:0018838 {source="MESH:C566908", source="MONDO:Redundant", source="NCIT:C148461", source="OMIM:611603", source="Orphanet:171680"} ! lissencephaly spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20766 {source="MONDO:mim2gene_medgen"} ! TUBA1A

[Term]
id: MONDO:0012704
name: dilated cardiomyopathy 1X
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1X" RELATED [MONDO:Lexical, OMIM:611615]
synonym: "cardiomyopathy, dilated, type 1X" EXACT [MONDORULE:4, OMIM:611615]
synonym: "cardiomyopathy, dilated, with mild or No proximal muscle weakness" RELATED [OMIM:611615]
synonym: "CMD1X" EXACT ABBREVIATION [DOID:0110444, MONDO:Lexical, OMIM:611615]
synonym: "dilated cardiomyopathy type 1X" EXACT [DOID:0110444, MONDORULE:4]
synonym: "dilated cardiomyopathy with mild or no proximal muscle weakness" EXACT [DOID:0110444]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in FKTN" EXACT [MONDO:design_pattern]
synonym: "FKTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110444 {source="MONDO:equivalentTo"}
xref: GARD:15522 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110444"}
xref: MEDGEN:370583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566907 {source="MONDO:equivalentTo"}
xref: OMIM:611615 {source="MONDO:equivalentTo", source="DOID:0110444"}
xref: Orphanet:154 {source="OMIM:611615"}
xref: UMLS:C1969024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370583"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:611615"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN

[Term]
id: MONDO:0012705
name: familial temporal lobe epilepsy 3
subset: gard_rare {source="GARD:18279", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, familial mesial temporal lobe" RELATED [OMIM:611630]
synonym: "epilepsy, familial temporal lobe, 3" RELATED [MONDO:Lexical, OMIM:611630]
synonym: "ETL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611630]
synonym: "familial mesial temporal lobe epilepsy" EXACT [DOID:0060750]
synonym: "familial temporal lobe epilepsy type 3" EXACT [DOID:0060750, MONDORULE:1]
synonym: "FMTLE" EXACT ABBREVIATION [DOID:0060750]
xref: DOID:0060750 {source="MONDO:equivalentTo"}
xref: GARD:18279 {source="MONDO:GARD"}
xref: MEDGEN:368898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566903 {source="MONDO:equivalentTo"}
xref: OMIM:611630 {source="DOID:0060750", source="MONDO:equivalentTo"}
xref: Orphanet:163717 {source="DOID:0060750", source="OMIM:611630"}
xref: UMLS:C1968848 {source="MEDGEN:368898", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005115 {source="DOID:0060750", source="OMIM:611630"} ! temporal lobe epilepsy

[Term]
id: MONDO:0012706
name: familial temporal lobe epilepsy 4
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22." [DOID:0060753, PMID:17460155, PMID:18332351]
subset: gard_rare {source="GARD:15523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, familial temporal lobe, 4" RELATED [MONDO:Lexical, OMIM:611631]
synonym: "epilepsy, occipitotemporal lobe, and migraine with aura" RELATED [OMIM:611631]
synonym: "EPOLM" RELATED ABBREVIATION [DOID:0060753]
synonym: "ETL4" EXACT ABBREVIATION [DOID:0060753, MONDO:Lexical, OMIM:611631]
synonym: "familial temporal lobe epilepsy type 4" EXACT [DOID:0060753, MONDORULE:1]
synonym: "occipitotemporal lobe epilepsy and migraine with aura" RELATED [DOID:0060753]
xref: DOID:0060753 {source="MONDO:equivalentTo"}
xref: GARD:15523 {source="MONDO:GARD"}
xref: MEDGEN:368897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566902 {source="MONDO:equivalentTo"}
xref: OMIM:611631 {source="MONDO:equivalentTo", source="DOID:0060753"}
xref: Orphanet:98819 {source="OMIM:611631", source="DOID:0060753"}
xref: UMLS:C1968847 {source="MONDO:equivalentTo", source="MEDGEN:368897", source="MONDO:MEDGEN"}
is_a: MONDO:0005115 {source="OMIM:611631"} ! temporal lobe epilepsy

[Term]
id: MONDO:0012707
name: familial febrile seizures 9
synonym: "FEB9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611634]
synonym: "febrile convulsions, familial, 9" RELATED [OMIM:611634]
synonym: "febrile seizures, familial, 9" RELATED [MONDO:Lexical, OMIM:611634]
xref: DOID:0111303 {source="MONDO:equivalentTo"}
xref: MEDGEN:369868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566901 {source="MONDO:equivalentTo"}
xref: OMIM:611634 {source="MONDO:equivalentTo"}
xref: UMLS:C1968846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369868"}
is_a: MONDO:0000032 {source="DC-OMIM:611634", source="OMIM:611634"} ! febrile seizures, familial
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease

[Term]
id: MONDO:0012708
name: primary lateral sclerosis, adult, 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Pls, adult" RELATED [OMIM:611637]
synonym: "PLSA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611637]
synonym: "primary lateral sclerosis, ADULT, 1" RELATED [MONDO:Lexical, OMIM:611637]
xref: MEDGEN:369357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566900 {source="MONDO:equivalentTo"}
xref: OMIM:611637 {source="MONDO:equivalentTo"}
xref: Orphanet:35689 {source="OMIM:611637"}
xref: UMLS:C1968845 {source="MEDGEN:369357", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018155 {source="DC-OMIM:611637"} ! lateral sclerosis

[Term]
id: MONDO:0012709
name: microphthalmia, isolated, with coloboma 5
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPCB5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611638]
synonym: "microphthalmia with coloboma 5" EXACT [OMIM:611638, OMIM:genemap2]
synonym: "microphthalmia, isolated, with coloboma 5" EXACT [MONDO:Lexical, OMIM:611638]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in SHH" EXACT []
synonym: "microphthalmia, isolated, with coloboma caused by mutation in Shh" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 5" EXACT [MONDORULE:1, OMIM:611638]
synonym: "SHH microphthalmia, isolated, with coloboma" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Shh microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern]
xref: GARD:15524 {source="MONDO:GARD"}
xref: MEDGEN:369356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566899 {source="MONDO:equivalentTo"}
xref: OMIM:611638 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:611638"}
xref: UMLS:C1968843 {source="MEDGEN:369356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:611638", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma
intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 ! SHH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10848 {source="MONDO:mim2gene_medgen"} ! SHH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012710
name: Hirschsprung disease, susceptibility to, 9
subset: predisposition
synonym: "Hirschsprung disease, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:611644]
synonym: "HSCR9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611644]
xref: MEDGEN:369866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611644 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:611644"}
xref: UMLS:C1968840 {source="MEDGEN:369866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012711
name: peripapillary atrophy, beta type
synonym: "Beta-PPA" RELATED [OMIM:611650]
synonym: "peripapillary atrophy, BETA type" RELATED [OMIM:611650]
synonym: "peripapillary atrophy, beta type" EXACT [MONDO:Lexical, OMIM:611650]
synonym: "peripapillary chorioretinal atrophy, Beta type" RELATED [OMIM:611650]
synonym: "PPAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611650]
xref: MEDGEN:409689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566898 {source="MONDO:equivalentTo"}
xref: OMIM:611650 {source="MONDO:equivalentTo"}
xref: UMLS:C1968838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409689"}
is_a: MONDO:0003847 {source="MESH:C566898/inferred"} ! hereditary disease

[Term]
id: MONDO:0012712
name: dystonia with cerebellar atrophy
synonym: "dystonia with cerebellar atrophy" EXACT [MONDO:Lexical, OMIM:611694]
synonym: "DYTCA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611694]
xref: MEDGEN:392987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567131 {source="MONDO:equivalentTo"}
xref: OMIM:611694 {source="MONDO:equivalentTo"}
xref: UMLS:C2673697 {source="MEDGEN:392987", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012713
name: spondylometaphyseal dysplasia, East African type
subset: gard_rare {source="GARD:4992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "spondylometaphyseal dysplasia East-African type" RELATED [GARD:0004992]
synonym: "spondylometaphyseal dysplasia, East African type" EXACT [OMIM:611702]
xref: DOID:0112302 {source="MONDO:equivalentTo"}
xref: GARD:4992 {source="MONDO:GARD"}
xref: MEDGEN:388701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535796 {source="MONDO:equivalentTo"}
xref: OMIM:611702 {source="MONDO:equivalentTo"}
xref: UMLS:C2673686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388701"}
is_a: MONDO:0016763 {source="DC-OMIM:611702"} ! spondylometaphyseal dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type" xsd:anyURI {source="GARD:0004992"}

[Term]
id: MONDO:0012714
name: early-onset myopathy with fatal cardiomyopathy
subset: gard_rare {source="GARD:17324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289377"}
subset: orphanet_rare {source="Orphanet:289377"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EOMFC" RELATED ABBREVIATION [OMIM:611705]
synonym: "myopathy, early-onset, with fatal cardiomyopathy" RELATED [OMIM:611705]
synonym: "Salih myopathy" EXACT [Orphanet:289377]
synonym: "SALMY" RELATED ABBREVIATION [OMIM:611705]
xref: DOID:0081341 {source="MONDO:equivalentTo"}
xref: GARD:17324 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:289377/attributed", source="Orphanet:289377/ntbt", source="Orphanet:289377"}
xref: MEDGEN:435983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567129 {source="MONDO:equivalentTo"}
xref: OMIM:611705 {source="Orphanet:289377", source="MONDO:equivalentTo", source="Orphanet:289377/e"}
xref: Orphanet:289377 {source="MONDO:equivalentTo", source="OMIM:611705"}
xref: SCTID:702343002 {source="MONDO:equivalentTo"}
xref: UMLS:C2673677 {source="MEDGEN:435983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0019056 ! neuromuscular disease
is_a: MONDO:0019952 {source="OMIM:611705"} ! congenital myopathy
is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN

[Term]
id: MONDO:0012715
name: migraine with or without aura, susceptibility to, 12
subset: predisposition
synonym: "MGR12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611706]
synonym: "migraine with or without aura, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:611706]
synonym: "migraine, with or without aura, susceptibility to, 12" EXACT [OMIM:611706, OMIM:genemap2]
xref: MEDGEN:388698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611706 {source="MONDO:equivalentTo"}
xref: UMLS:C2673676 {source="MEDGEN:388698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100246 {source="DC-OMIM:611706", source="OMIM:611706/inferred"} ! migraine with or without aura, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012716
name: spondyloepiphyseal dysplasia, Cantu type
def: "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." [Orphanet:163654]
subset: gard_rare {source="GARD:10629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163654"}
subset: orphanet_rare {source="Orphanet:163654"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fantasy Island syndrome" RELATED [OMIM:611717]
synonym: "SED-BDS" EXACT [Orphanet:163654]
synonym: "Sed-BDS" RELATED [OMIM:611717]
synonym: "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech" RELATED [OMIM:611717]
synonym: "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome" EXACT [Orphanet:163654]
synonym: "Tatoo dysplasia" RELATED [OMIM:611717]
synonym: "tattoo dysplasia" EXACT [Orphanet:163654]
xref: DOID:0112287 {source="MONDO:equivalentTo"}
xref: GARD:10629 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:163654", source="Orphanet:163654/attributed", source="Orphanet:163654/ntbt"}
xref: MEDGEN:435975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567128 {source="MONDO:equivalentTo"}
xref: OMIM:611717 {source="MONDO:equivalentTo", source="Orphanet:163654", source="Orphanet:163654/e"}
xref: Orphanet:163654 {source="MONDO:equivalentTo", source="OMIM:611717"}
xref: SCTID:718765003 {source="MONDO:equivalentTo"}
xref: UMLS:C2673649 {source="MONDO:equivalentTo", source="MEDGEN:435975", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="Orphanet:163654"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0012717
name: renal hypomagnesemia 4
def: "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EGF familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EGF primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial primary hypomagnesemia caused by mutation in EGF" EXACT []
synonym: "HOMG4" EXACT ABBREVIATION [DOID:0060882, MONDO:Lexical, OMIM:611718]
synonym: "hypomagnesemia 4, renal" RELATED [MONDO:Lexical, OMIM:611718]
synonym: "hypomagnesemia, renal, Normocalciuric" RELATED [OMIM:611718]
synonym: "primary hypomagnesemia caused by mutation in EGF" EXACT [MONDO:design_pattern]
synonym: "renal hypomagnesemia type 4" EXACT [DOID:0060882, MONDORULE:1]
xref: DOID:0060882 {source="MONDO:equivalentTo"}
xref: ICD10CM:E83.4 {source="DOID:0060882"}
xref: MEDGEN:388692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567127 {source="MONDO:equivalentTo"}
xref: OMIM:611718 {source="DOID:0060882", source="MONDO:equivalentTo"}
xref: Orphanet:34527 {source="DOID:0060882", source="OMIM:611718"}
xref: UMLS:C2673648 {source="MEDGEN:388692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018100 {source="DOID:0060882", source="MONDO:Redundant", source="OMIM:611718"} ! familial primary hypomagnesemia
is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia
intersection_of: MONDO:0018100 ! familial primary hypomagnesemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3229 ! EGF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3229 {source="MONDO:mim2gene_medgen"} ! EGF

[Term]
id: MONDO:0012718
name: hypotonia with lactic acidemia and hyperammonemia
def: "This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia." [Orphanet:137908]
subset: gard_rare {source="GARD:16950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137908"}
subset: orphanet_rare {source="Orphanet:137908"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation defect type 5" EXACT [Orphanet:137908]
synonym: "combined oxidative phosphorylation deficiency 5" RELATED [MONDO:Lexical, OMIM:611719]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS22" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 5" EXACT [MONDORULE:1, OMIM:611719]
synonym: "COXPD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611719, Orphanet:137908]
synonym: "MRPS22 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111473 {source="MONDO:equivalentTo"}
xref: GARD:16950 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:137908/attributed", source="Orphanet:137908/ntbt", source="Orphanet:137908"}
xref: MEDGEN:435972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567126 {source="MONDO:equivalentTo"}
xref: OMIM:611719 {source="Orphanet:137908/e", source="MONDO:equivalentTo", source="Orphanet:137908"}
xref: Orphanet:137908 {source="OMIM:611719", source="MONDO:equivalentTo"}
xref: SCTID:724279004 {source="MONDO:equivalentTo"}
xref: UMLS:C2673642 {source="MEDGEN:435972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:611719", source="MONDO:Redundant", source="OMIM:611719"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14508 {source="MONDO:mim2gene_medgen"} ! MRPS22
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14508 {source="MONDO:mim2gene_medgen"} ! MRPS22

[Term]
id: MONDO:0012719
name: combined PSAP deficiency
def: "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." [Orphanet:139406]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139406"}
subset: orphanet_rare {source="Orphanet:139406"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined prosaposin deficiency" EXACT [Orphanet:139406]
synonym: "combined SAP deficiency" RELATED [GARD:0012505]
synonym: "combined Sap deficiency" RELATED [OMIM:611721]
synonym: "combined saposin deficiency" RELATED [GARD:0012505, OMIM:611721]
synonym: "encephalopathy due to prosaposin deficiency" EXACT [Orphanet:139406]
synonym: "prosaposin deficiency" RELATED [OMIM:611721]
synonym: "PSAPD" RELATED ABBREVIATION [GARD:0012505]
xref: DOID:0111330 {source="MONDO:equivalentTo"}
xref: GARD:12505 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:139406/attributed", source="Orphanet:139406/ntbt", source="Orphanet:139406"}
xref: MEDGEN:382151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567125 {source="MONDO:equivalentTo"}
xref: OMIM:611721 {source="Orphanet:139406", source="MONDO:equivalentTo", source="Orphanet:139406/e"}
xref: Orphanet:139406 {source="MONDO:equivalentTo", source="OMIM:611721"}
xref: SCTID:720864008 {source="MONDO:equivalentTo"}
xref: UMLS:C2673635 {source="MEDGEN:382151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019255 {source="MESH:C567125/inferred", source="MONDO:0018299-obsoleted", source="Orphanet:139406"} ! sphingolipidosis
is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 {source="MONDO:mim2gene_medgen"} ! PSAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency" xsd:anyURI {source="GARD:0012505"}

[Term]
id: MONDO:0012720
name: Krabbe disease due to saposin A deficiency
subset: gard_rare {source="GARD:10289", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Krabbe disease, atypical" EXACT [OMIM:611722, OMIM:genemap2]
synonym: "Krabbe disease, atypical due to saposin A deficiency" EXACT [GARD:0010289]
synonym: "Krabbe disease, atypical, due to saposin A deficiency" EXACT [OMIM:611722]
synonym: "saposin A deficiency" RELATED [OMIM:611722]
xref: GARD:10289 {source="MONDO:GARD"}
xref: MEDGEN:392873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567097 {source="MONDO:equivalentTo"}
xref: OMIM:611722 {source="MONDO:equivalentTo"}
xref: Orphanet:487 {source="OMIM:611722"}
xref: UMLS:C2673266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:392873"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0100517 {source="https://clinicalgenome.org/affiliation/50009/"} ! PSAP-related sphingolipidosis
relationship: disease_shares_features_of MONDO:0009499 {source="MESH:C567097", source="Orphanet:487/btnt"} ! Krabbe disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 {source="MONDO:mim2gene_medgen"} ! PSAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6019" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency" xsd:anyURI {source="GARD:0010289"}

[Term]
id: MONDO:0012721
name: progressive myoclonic epilepsy type 3
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:2167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263516"}
subset: orphanet_rare {source="Orphanet:263516"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 14" RELATED [OMIM:611726]
synonym: "epilepsy progressive myoclonic type 3" RELATED [GARD:0002167]
synonym: "epilepsy, progressive myoclonic 3, with or without intracellular inclusions" EXACT [OMIM:611726, OMIM:genemap2]
synonym: "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions" RELATED [MONDO:Lexical, OMIM:611726]
synonym: "EPM 3" RELATED [GARD:0002167]
synonym: "EPM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611726, Orphanet:263516]
synonym: "KCTD7 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PME type 3" EXACT [Orphanet:263516]
synonym: "progressive myoclonic epilepsy 3" RELATED [GARD:0002167]
synonym: "progressive myoclonic epilepsy caused by mutation in KCTD7" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [Orphanet:263516]
synonym: "progressive myoclonic epilepsy type 3" EXACT CLINGEN_LABEL []
synonym: "progressive myoclonus epilepsy type 3" EXACT [Orphanet:263516]
xref: DOID:0111446 {source="MONDO:equivalentTo"}
xref: GARD:2167 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:263516/attributed", source="Orphanet:263516/ntbt", source="Orphanet:263516"}
xref: MEDGEN:388595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567095 {source="MONDO:equivalentTo"}
xref: OMIM:611726 {source="Orphanet:263516/e", source="MONDO:equivalentTo", source="Orphanet:263516"}
xref: Orphanet:263516 {source="MONDO:equivalentTo", source="OMIM:611726"}
xref: UMLS:C2673257 {source="MEDGEN:388595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0016295 {source="Orphanet:263516", source="Orphanet:263516/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020074 {source="DC-OMIM:611726", source="MESH:C567095", source="MONDO:Redundant", source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! progressive myoclonus epilepsy
intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21957 ! KCTD7
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21957 {source="MONDO:mim2gene_medgen"} ! KCTD7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3" xsd:anyURI {source="GARD:0002167"}

[Term]
id: MONDO:0012722
name: Dauwerse-Peters syndrome
synonym: "Dauwerse-Peters syndrome" EXACT [OMIM:611733]
synonym: "short stature, facial dysmorphism, severe brachydactyly and syndactyly" RELATED [GARD:0010568]
synonym: "short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly" RELATED [OMIM:611733]
xref: MEDGEN:382037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567093 {source="MONDO:equivalentTo"}
xref: OMIM:611733 {source="MONDO:equivalentTo"}
xref: UMLS:C2673203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382037"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10568/dauwerse-peters-syndrome" xsd:anyURI {source="GARD:0010568"}

[Term]
id: MONDO:0012723
name: Leber congenital amaurosis 10
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 10" RELATED [GARD:0010487]
synonym: "CEP290 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA10" EXACT ABBREVIATION [DOID:0110291, MONDO:Lexical, OMIM:611755]
synonym: "Leber congenital amaurosis 10" EXACT [MONDO:Lexical, OMIM:611755]
synonym: "Leber congenital amaurosis caused by mutation in CEP290" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 10" EXACT [DOID:0110291, MONDORULE:2, OMIM:611755]
xref: DOID:0110291 {source="MONDO:equivalentTo"}
xref: GARD:10487 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110291"}
xref: MEDGEN:346672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565720 {source="MONDO:equivalentTo"}
xref: OMIM:611755 {source="DOID:0110291", source="MONDO:equivalentTo"}
xref: UMLS:C1857821 {source="MEDGEN:346672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:611755", source="DOID:0110291", source="MESH:C565720", source="MONDO:Redundant", source="OMIM:611755"} ! Leber congenital amaurosis
is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290-related ciliopathy
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="MONDO:mim2gene_medgen"} ! CEP290
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10487/leber-congenital-amaurosis-10" xsd:anyURI {source="GARD:0010487"}

[Term]
id: MONDO:0012724
name: familial cold autoinflammatory syndrome 2
def: "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." [NCIT:C119043]
subset: gard_rare {source="GARD:17201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247868"}
subset: orphanet_rare {source="Orphanet:247868"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial cold autoinflammatory syndrome 2" EXACT [MONDO:Lexical, OMIM:611762]
synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP12" EXACT [MONDO:design_pattern]
synonym: "familial cold autoinflammatory syndrome type 2" EXACT [DOID:0090063, MONDORULE:1, OMIM:611762, Orphanet:247868]
synonym: "FCAS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611762, Orphanet:247868]
synonym: "NALP12-associated hereditary periodic fever syndrome" EXACT [NCIT:C119043]
synonym: "NAPS12" EXACT ABBREVIATION [Orphanet:247868]
synonym: "NLRP12 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [DOID:0090063]
xref: DOID:0090063 {source="MONDO:equivalentTo"}
xref: GARD:17201 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="DOID:0090063", source="Orphanet:247868", source="Orphanet:247868/attributed", source="Orphanet:247868/ntbt"}
xref: MEDGEN:435869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567090 {source="MONDO:equivalentTo"}
xref: NANDO:2200449 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200454 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119043 {source="MONDO:equivalentTo"}
xref: OMIM:611762 {source="DOID:0090063", source="MONDO:equivalentTo", source="Orphanet:247868", source="Orphanet:247868/e"}
xref: Orphanet:247868 {source="OMIM:611762", source="MONDO:equivalentTo"}
xref: UMLS:C2673198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:435869"}
is_a: MONDO:0015137 {source="MONDO:Redundant", source="NCIT:C119043", source="Orphanet:247868/inferred"} ! periodic fever syndrome
is_a: MONDO:0018768 {source="DC-OMIM:611762", source="DOID:0090063", source="MONDO:Redundant", source="OMIM:611762"} ! familial cold autoinflammatory syndrome
intersection_of: MONDO:0018768 ! familial cold autoinflammatory syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22938 ! NLRP12
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22938 {source="MONDO:mim2gene_medgen"} ! NLRP12

[Term]
id: MONDO:0012725
name: lipoprotein glomerulopathy
subset: gard_rare {source="GARD:17504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329481"}
subset: orphanet_rare {source="Orphanet:329481"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lipoprotein glomerulopathy" EXACT [MONDO:Lexical, OMIM:611771]
synonym: "LPG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611771, Orphanet:329481]
xref: GARD:17504 {source="MONDO:GARD"}
xref: ICD10CM:N07.8 {source="Orphanet:329481/attributed", source="Orphanet:329481/ntbt", source="Orphanet:329481"}
xref: icd11.foundation:69778702 {source="Orphanet:329481", source="MONDO:equivalentTo"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:382034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567089 {source="MONDO:equivalentTo"}
xref: NANDO:2200134 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:611771 {source="Orphanet:329481", source="MONDO:equivalentTo", source="Orphanet:329481/e"}
xref: Orphanet:329481 {source="OMIM:611771", source="MONDO:equivalentTo"}
xref: SCTID:446923008 {source="MONDO:equivalentTo"}
xref: UMLS:C2673196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382034"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015905 {source="Orphanet:329481"} ! syndromic dyslipidemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/613 {source="MONDO:mim2gene_medgen"} ! APOE

[Term]
id: MONDO:0012726
name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
def: "A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." [Orphanet:73229]
subset: gard_rare {source="GARD:10889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:73229"}
subset: orphanet_rare {source="Orphanet:73229"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" EXACT [MONDO:Lexical, OMIM:611773]
synonym: "HANAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611773]
synonym: "HANAC syndrome" EXACT [Orphanet:73229]
synonym: "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" RELATED [GARD:0010889]
synonym: "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" EXACT [Orphanet:73229]
xref: GARD:10889 {source="MONDO:GARD"}
xref: ICD10CM:I99 {source="Orphanet:73229", source="Orphanet:73229/attributed", source="Orphanet:73229/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:382033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567088 {source="MONDO:equivalentTo"}
xref: OMIM:611773 {source="MONDO:equivalentTo", source="Orphanet:73229", source="Orphanet:73229/e"}
xref: Orphanet:73229 {source="OMIM:611773", source="MONDO:equivalentTo"}
xref: SCTID:702428000 {source="MONDO:equivalentTo"}
xref: UMLS:C2673195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382033"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="MONDO:mim2gene_medgen"} ! COL4A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0012727
name: mucocutaneous lymph node syndrome
def: "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." [Orphanet:2331]
subset: gard_rare {source="GARD:6816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2331"}
subset: orphanet_rare {source="Orphanet:2331"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute febrile MCLS" EXACT [DOID:13378]
synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [DOID:13378]
synonym: "acute febrile mucocutaneous lymph node syndrome [MCLS]" EXACT [DOID:13378, ICD9CM:446.1]
synonym: "infantile polyarteritis" RELATED [OMIM:611775]
synonym: "infantile polyarteritis nodosa" EXACT [NCIT:C34825]
synonym: "Kawasaki disease" RELATED [OMIM:611775]
synonym: "Kawasaki syndrome" RELATED [GARD:0006816]
synonym: "Kawasaki's disease" EXACT [DOID:13378]
synonym: "Kd" RELATED [OMIM:611775]
synonym: "MLNS" EXACT ABBREVIATION [DOID:13378]
synonym: "mucocutaneous lymph node syndrome" EXACT [DOID:13378, OMIM:611775, Orphanet:2331]
xref: DOID:13378 {source="EFO:0004246", source="MONDO:equivalentTo"}
xref: EFO:0004246 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6816 {source="MONDO:GARD"}
xref: ICD10CM:M30.3 {source="Orphanet:2331", source="Orphanet:2331/e", source="DOID:13378"}
xref: icd11.foundation:540285662 {source="Orphanet:2331", source="MONDO:equivalentTo"}
xref: ICD9:446.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13378"}
xref: MedDRA:10023320 {source="Orphanet:2331", source="Orphanet:2331/e"}
xref: MEDGEN:10118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009080 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"}
xref: NCIT:C34825 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"}
xref: OMIM:611775 {source="Orphanet:2331", source="EFO:0004246", source="MONDO:equivalentTo", source="Orphanet:2331/e", source="DOID:13378"}
xref: Orphanet:2331 {source="MONDO:equivalentTo", source="OMIM:611775"}
xref: SCTID:155444003 {source="DOID:13378"}
xref: SCTID:195348009 {source="DOID:13378"}
xref: SCTID:195349001 {source="DOID:13378"}
xref: SCTID:75053002 {source="MONDO:equivalentTo", source="DOID:13378"}
xref: UMLS:C0026691 {source="MEDGEN:10118", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002052 {source="DOID:13378"} ! lymphadenitis
is_a: MONDO:0018882 {source="MESH:D009080", source="MONDO:Redundant", source="NCIT:C34825", source="Orphanet:2331/inferred"} ! vasculitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14897 {source="MONDO:mim2gene_medgen"} ! ITPKC

[Term]
id: MONDO:0012728
name: Brugada syndrome 2
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15526", source="MONDO:GARD"}
subset: rare
synonym: "BRGDA2" EXACT ABBREVIATION [DOID:0110219, MONDO:Lexical, OMIM:611777]
synonym: "Brugada syndrome 2" EXACT [MONDO:Lexical, OMIM:611777]
synonym: "Brugada syndrome caused by mutation in GPD1L" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 2" EXACT [DOID:0110219, MONDORULE:1, OMIM:611777]
synonym: "GPD1L Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110219 {source="MONDO:equivalentTo"}
xref: GARD:15526 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0110219"}
xref: MEDGEN:382031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567087 {source="MONDO:equivalentTo"}
xref: OMIM:611777 {source="DOID:0110219", source="MONDO:equivalentTo"}
xref: Orphanet:130 {source="OMIM:611777"}
xref: UMLS:C2673193 {source="MONDO:equivalentTo", source="MEDGEN:382031", source="MONDO:MEDGEN"}
is_a: MONDO:0015263 {source="DC-OMIM:611777", source="DOID:0110219", source="MESH:C567087", source="MONDO:Redundant", source="OMIM:611777"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28956 ! GPD1L
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28956 {source="MONDO:mim2gene_medgen"} ! GPD1L

[Term]
id: MONDO:0012729
name: erythrocytosis, familial, 4
def: "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECYT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611783]
synonym: "EPAS1 familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "erythrocytosis, familial, 4" EXACT [MONDO:Lexical, OMIM:611783]
synonym: "erythrocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:611783]
synonym: "familial polycythemia caused by mutation in EPAS1" EXACT [MONDO:design_pattern]
xref: DOID:0080339 {source="MONDO:equivalentTo"}
xref: GARD:18356 {source="MONDO:GARD"}
xref: MEDGEN:435867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567086 {source="MONDO:equivalentTo"}
xref: OMIM:611783 {source="MONDO:equivalentTo", source="DOID:0080339"}
xref: Orphanet:247511 {source="OMIM:611783"}
xref: UMLS:C2673187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:435867"}
is_a: MONDO:0001115 {source="DC-OMIM:611783", source="DOID:0080339", source="OMIM:611783"} ! familial polycythemia
intersection_of: MONDO:0001115 ! familial polycythemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3374 ! EPAS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3374 {source="MONDO:mim2gene_medgen"} ! EPAS1

[Term]
id: MONDO:0012730
name: aortic aneurysm, familial thoracic 6
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15527", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAT6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611788]
synonym: "ACTA2 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "aortic aneurysm, familial thoracic 6" EXACT [MONDO:Lexical, OMIM:611788]
synonym: "aortic aneurysm, familial thoracic type 6" EXACT [MONDORULE:1, OMIM:611788]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2" EXACT [MONDO:design_pattern]
synonym: "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" RELATED [OMIM:611788]
xref: GARD:15527 {source="MONDO:GARD"}
xref: MEDGEN:435866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567085 {source="MONDO:equivalentTo"}
xref: OMIM:611788 {source="MONDO:equivalentTo"}
xref: Orphanet:91387 {source="OMIM:611788"}
xref: UMLS:C2673186 {source="MEDGEN:435866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:611788", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 ! ACTA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 {source="MONDO:mim2gene_medgen"} ! ACTA2

[Term]
id: MONDO:0012731
name: elliptocytosis 1
def: "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "4.1- trait" RELATED [OMIM:611804]
synonym: "4.1-minus trait" RELATED [OMIM:611804]
synonym: "EL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611804]
synonym: "elliptocytosis 1" EXACT [MONDO:Lexical, OMIM:611804]
synonym: "elliptocytosis type 1" EXACT [MONDORULE:1, OMIM:611804]
synonym: "elliptocytosis, Rhesus-linked type" RELATED [OMIM:611804]
synonym: "elliptocytosis-1" EXACT [OMIM:611804, OMIM:genemap2]
synonym: "EPB41 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary elliptocytosis caused by mutation in EPB41" EXACT [MONDO:design_pattern]
synonym: "Protein 4.1 of erythrocyte Membrane, defect of" RELATED [OMIM:611804]
xref: GARD:15528 {source="MONDO:GARD"}
xref: MEDGEN:394841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567520 {source="MONDO:equivalentTo"}
xref: OMIM:611804 {source="MONDO:equivalentTo"}
xref: Orphanet:288 {source="OMIM:611804"}
xref: UMLS:C2678497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394841"}
is_a: MONDO:0017319 {source="DC-OMIM:611804", source="MESH:C567520", source="MONDO:Redundant"} ! hereditary elliptocytosis
intersection_of: MONDO:0017319 ! hereditary elliptocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3377 ! EPB41
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3377 {source="MONDO:mim2gene_medgen"} ! EPB41
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012732
name: tremor, hereditary essential, and idiopathic normal pressure hydrocephalus
synonym: "ETINPH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611808]
synonym: "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" EXACT [MONDO:Lexical, OMIM:611808]
xref: MEDGEN:394839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567519 {source="MONDO:equivalentTo"}
xref: OMIM:611808 {source="MONDO:equivalentTo"}
xref: UMLS:C2678494 {source="MEDGEN:394839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0012733
name: autosomal recessive bestrophinopathy
def: "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." [Orphanet:139455]
subset: gard_rare {source="GARD:10301", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139455"}
subset: orphanet_rare {source="Orphanet:139455"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611809]
synonym: "bestrophinopathy" EXACT [DOID:0050662]
synonym: "bestrophinopathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611809]
synonym: "retinopathy, Burgess-Black type" EXACT [Orphanet:139455]
xref: DOID:0050662 {source="MONDO:equivalentTo"}
xref: GARD:10301 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:139455/attributed", source="Orphanet:139455/ntbt", source="MONDO:directSiblingOf", source="Orphanet:139455"}
xref: MEDGEN:854806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567518 {source="MONDO:equivalentTo"}
xref: OMIM:611809 {source="DOID:0050662", source="Orphanet:139455/e", source="MONDO:equivalentTo", source="Orphanet:139455"}
xref: Orphanet:139455 {source="OMIM:611809", source="MONDO:equivalentTo"}
xref: SCTID:723828008 {source="MONDO:equivalentTo"}
xref: UMLS:C3888198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854806"}
is_a: MONDO:0003004 {source="DOID:0050662"} ! macular degeneration
is_a: MONDO:0019118 {source="Orphanet:139455"} ! inherited retinal dystrophy
is_a: MONDO:0700239 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1-related recessive retinopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0012734
name: SERKAL syndrome
def: "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." [Orphanet:139466]
subset: gard_rare {source="GARD:10302", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139466"}
subset: ordo_malformation_syndrome {source="Orphanet:139466"}
subset: orphanet_rare {source="Orphanet:139466"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs" EXACT [NCIT:C123726]
synonym: "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs" RELATED [MONDO:Lexical, OMIM:611812]
synonym: "SERKAL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611812]
synonym: "SERKAL syndrome" EXACT [OMIM:611812]
synonym: "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" EXACT [Orphanet:139466]
xref: GARD:10302 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:139466/attributed", source="Orphanet:139466/ntbt", source="Orphanet:139466"}
xref: MEDGEN:394528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567517 {source="MONDO:equivalentTo"}
xref: NCIT:C123726 {source="MONDO:equivalentTo"}
xref: OMIM:611812 {source="Orphanet:139466/e", source="MONDO:equivalentTo", source="Orphanet:139466"}
xref: Orphanet:139466 {source="MONDO:equivalentTo", source="OMIM:611812"}
xref: SCTID:723720008 {source="MONDO:equivalentTo"}
xref: UMLS:C2678492 {source="MEDGEN:394528", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009299 {source="DC-OMIM:611812"} ! 46 XX gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12783 {source="MONDO:mim2gene_medgen"} ! WNT4

[Term]
id: MONDO:0012735
name: Temple-Baraitser syndrome
def: "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." [https://orcid.org/0000-0001-5208-3432, Orphanet:420561]
subset: gard_rare {source="GARD:9441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420561"}
subset: orphanet_rare {source="Orphanet:420561"}
subset: rare
synonym: "intellectual disability, severe, and absent nails of hallux and pollex" RELATED [OMIM:611816]
synonym: "mental retardation, severe, and absent nails of hallux and pollex" RELATED DEPRECATED [OMIM:611816]
synonym: "severe intellectual disability and absent nails of hallux and pollex" RELATED [GARD:0009441]
synonym: "severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome" EXACT [Orphanet:420561]
synonym: "severe mental retardation and absent nails of hallux and pollex" RELATED DEPRECATED [GARD:0009441]
synonym: "Temple-Baraitser syndrome" EXACT [MONDO:Lexical, OMIM:611816]
synonym: "TMBTS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611816, Orphanet:420561]
xref: GARD:9441 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:420561", source="Orphanet:420561/attributed", source="Orphanet:420561/ntbt"}
xref: MEDGEN:395636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567516 {source="MONDO:equivalentTo"}
xref: OMIM:611816 {source="Orphanet:420561", source="MONDO:equivalentTo", source="Orphanet:420561/e"}
xref: Orphanet:420561 {source="MONDO:equivalentTo", source="OMIM:611816"}
xref: UMLS:C2678486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395636"}
is_a: MONDO:0003847 {source="OMIM:611816"} ! hereditary disease
is_a: MONDO:0100485 {source="https://clinicalgenome.org/affiliation/40006/"} ! KCNH1 associated disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:420561", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="EFO:0009062", source="Orphanet:420561", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0019285 {source="Orphanet:420561", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic nail anomaly
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6250 {source="MONDO:mim2gene_medgen"} ! KCNH1

[Term]
id: MONDO:0012736
name: long QT syndrome 9
def: "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10435", source="MONDO:GARD"}
subset: rare
synonym: "CAV3 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 2/9, digenic" RELATED [OMIM:611818]
synonym: "long QT syndrome 9" EXACT [MONDO:Lexical, OMIM:611818]
synonym: "long QT syndrome 9, acquired, susceptibility to" RELATED [OMIM:611818]
synonym: "long QT syndrome caused by mutation in CAV3" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 9" EXACT [DOID:0110650, MONDORULE:1, OMIM:611818]
synonym: "LQT9" EXACT ABBREVIATION [DOID:0110650, MONDO:Lexical, OMIM:611818]
xref: DOID:0110650 {source="MONDO:equivalentTo"}
xref: GARD:10435 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="DOID:0110650"}
xref: MEDGEN:395635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567515 {source="MONDO:equivalentTo"}
xref: OMIM:611818 {source="MONDO:equivalentTo", source="DOID:0110650"}
xref: Orphanet:101016 {source="OMIM:611818", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:611818"}
xref: UMLS:C2678485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395635"}
is_a: MONDO:0019171 {source="OMIM:611818", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 ! CAV3
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110650", source="MESH:C567515", source="OMIM:611818", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="MONDO:mim2gene_medgen"} ! CAV3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9" xsd:anyURI {source="GARD:0010435"}

[Term]
id: MONDO:0012737
name: long QT syndrome 10
def: "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10436", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrial fibrillation, familial, 17" RELATED [OMIM:611819]
synonym: "long QT syndrome 10" EXACT [MONDO:Lexical, OMIM:611819]
synonym: "long QT syndrome caused by mutation in SCN4B" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 10" EXACT [DOID:0110651, MONDORULE:2, OMIM:611819]
synonym: "LQT10" EXACT ABBREVIATION [DOID:0110651, MONDO:Lexical, OMIM:611819]
synonym: "SCN4B long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110651 {source="MONDO:equivalentTo"}
xref: GARD:10436 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="DOID:0110651"}
xref: MEDGEN:394836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567514 {source="MONDO:equivalentTo"}
xref: OMIM:611819 {source="MONDO:equivalentTo", source="DOID:0110651"}
xref: Orphanet:101016 {source="OMIM:611819", source="MONDO:directSiblingOf"}
xref: Orphanet:334 {source="OMIM:611819", source="MONDO:relatedTo"}
xref: Orphanet:768 {source="OMIM:611819"}
xref: UMLS:C2678484 {source="MEDGEN:394836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019171 {source="OMIM:611819", source="Orphanet:768/btnt"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10592 ! SCN4B
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110651", source="MESH:C567514", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10592 {source="MONDO:mim2gene_medgen"} ! SCN4B
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10" xsd:anyURI {source="GARD:0010436"}

[Term]
id: MONDO:0012738
name: long QT syndrome 11
def: "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10437", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AKAP9 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 11" EXACT [MONDO:Lexical, OMIM:611820]
synonym: "long QT syndrome caused by mutation in AKAP9" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 11" EXACT [DOID:0110652, MONDORULE:2, OMIM:611820]
synonym: "LQT11" EXACT ABBREVIATION [DOID:0110652, MONDO:Lexical, OMIM:611820]
xref: DOID:0110652 {source="MONDO:equivalentTo"}
xref: GARD:10437 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="DOID:0110652"}
xref: MEDGEN:437218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567513 {source="MONDO:equivalentTo"}
xref: OMIM:611820 {source="MONDO:equivalentTo", source="DOID:0110652"}
xref: Orphanet:101016 {source="OMIM:611820", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:611820"}
xref: UMLS:C2678483 {source="MONDO:equivalentTo", source="MEDGEN:437218", source="MONDO:MEDGEN"}
is_a: MONDO:0019171 {source="OMIM:611820", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/379 ! AKAP9
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110652", source="MESH:C567513", source="OMIM:611820", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/379 {source="MONDO:mim2gene_medgen"} ! AKAP9
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11" xsd:anyURI {source="GARD:0010437"}

[Term]
id: MONDO:0012739
name: microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
def: "This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." [Orphanet:139450]
subset: gard_rare {source="GARD:10300", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139450"}
subset: ordo_malformation_syndrome {source="Orphanet:139450"}
subset: orphanet_rare {source="Orphanet:139450"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Balikova-Vermeesch syndrome" EXACT [Orphanet:139450]
synonym: "microtia eye coloboma and imperforation of the nasolacrimal duct" RELATED [GARD:0010300]
synonym: "microtia with nasolacrimal duct imperforation and eye coloboma" RELATED [OMIM:611863]
xref: GARD:10300 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:139450/attributed", source="Orphanet:139450/ntbt", source="Orphanet:139450"}
xref: MEDGEN:394835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567512 {source="MONDO:equivalentTo"}
xref: OMIM:611863 {source="Orphanet:139450/e", source="MONDO:equivalentTo", source="Orphanet:139450"}
xref: Orphanet:139450 {source="MONDO:equivalentTo", source="OMIM:611863"}
xref: UMLS:C2678482 {source="MEDGEN:394835", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0012740
name: chromosome 22q11.2 deletion syndrome, distal
def: "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors." [Orphanet:261330]
subset: gard_rare {source="GARD:17245", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261330"}
subset: ordo_malformation_syndrome {source="Orphanet:261330"}
subset: orphanet_rare {source="Orphanet:261330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 22q11.2 deletion syndrome, distal" EXACT [OMIM:611867]
synonym: "distal 22q11.2 microdeletion syndrome" EXACT [DOID:0060413]
synonym: "distal chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:611867]
synonym: "distal del(22)(q11.2)" EXACT [Orphanet:261330]
synonym: "distal monosomy 22q11.2" EXACT [Orphanet:261330]
xref: DECIPHER:72 {source="MONDO:equivalentTo"}
xref: DOID:0060413 {source="MONDO:equivalentTo"}
xref: GARD:17245 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261330/attributed", source="Orphanet:261330/ntbt", source="Orphanet:261330"}
xref: MEDGEN:395634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567511 {source="MONDO:equivalentTo"}
xref: OMIM:611867 {source="Orphanet:261330", source="DOID:0060413", source="MONDO:equivalentTo", source="Orphanet:261330/e"}
xref: Orphanet:261330 {source="DOID:0060413", source="MONDO:equivalentTo", source="OMIM:611867"}
xref: SCTID:734029004 {source="MONDO:equivalentTo"}
xref: UMLS:C2678480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395634"}
is_a: MONDO:0000761 {source="DC-OMIM:611867", source="DOID:0060413"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0022760 {source="Orphanet:261330"} ! chromosome 22q deletion
relationship: disease_arises_from_structure CHR:9606-chr22q11.2 {source="https://orcid.org/0000-0002-4142-7153"} ! 22q11.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0012741
name: prostate cancer, hereditary, 12
def: "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15529", source="MONDO:GARD"}
subset: rare
synonym: "EHBP1 familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial prostate cancer caused by mutation in EHBP1" EXACT [MONDO:design_pattern]
synonym: "HPC12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611868]
synonym: "prostate cancer, hereditary, 12" EXACT [MONDO:Lexical, OMIM:611868]
synonym: "prostate cancer, hereditary, type 12" EXACT [MONDORULE:2, OMIM:611868]
xref: GARD:15529 {source="MONDO:GARD"}
xref: MEDGEN:437216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567510 {source="MONDO:equivalentTo"}
xref: OMIM:611868 {source="MONDO:equivalentTo"}
xref: Orphanet:1331 {source="OMIM:611868"}
xref: UMLS:C2678479 {source="MEDGEN:437216", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:611868", source="MONDO:0012741/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 {source="MONDO:Redundant"} ! familial prostate carcinoma
intersection_of: MONDO:0023122 ! familial prostate carcinoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29144 ! EHBP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29144 {source="MONDO:mim2gene_medgen"} ! EHBP1

[Term]
id: MONDO:0012742
name: Brugada syndrome 3
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10361", source="MONDO:GARD"}
subset: rare
synonym: "BRGDA3" EXACT ABBREVIATION [DOID:0110220, MONDO:Lexical, OMIM:611875]
synonym: "Brugada syndrome 3" EXACT [MONDO:Lexical, OMIM:611875]
synonym: "Brugada syndrome caused by mutation in CACNA1C" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 3" EXACT [DOID:0110220, MONDORULE:1, OMIM:611875]
synonym: "CACNA1C Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110220 {source="MONDO:equivalentTo"}
xref: GARD:10361 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0110220"}
xref: MEDGEN:395633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567509 {source="MONDO:equivalentTo"}
xref: OMIM:611875 {source="MONDO:equivalentTo", source="DOID:0110220"}
xref: Orphanet:130 {source="OMIM:611875"}
xref: UMLS:C2678478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395633"}
is_a: MONDO:0015263 {source="DC-OMIM:611875", source="DOID:0110220", source="MESH:C567509", source="MONDO:Redundant", source="OMIM:611875"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1390 ! CACNA1C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1390 {source="MONDO:mim2gene_medgen"} ! CACNA1C
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3" xsd:anyURI {source="GARD:0010361"}

[Term]
id: MONDO:0012743
name: Brugada syndrome 4
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10362", source="MONDO:GARD"}
subset: rare
synonym: "BRGDA4" EXACT ABBREVIATION [DOID:0110221, MONDO:Lexical, OMIM:611876]
synonym: "Brugada syndrome 4" EXACT [MONDO:Lexical, OMIM:611876]
synonym: "Brugada syndrome caused by mutation in CACNB2" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 4" EXACT [DOID:0110221, MONDORULE:1, OMIM:611876]
synonym: "CACNB2 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110221 {source="MONDO:equivalentTo"}
xref: GARD:10362 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0110221"}
xref: MEDGEN:395632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567508 {source="MONDO:equivalentTo"}
xref: OMIM:611876 {source="MONDO:equivalentTo", source="DOID:0110221"}
xref: Orphanet:130 {source="OMIM:611876"}
xref: UMLS:C2678477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395632"}
is_a: MONDO:0015263 {source="DC-OMIM:611876", source="DOID:0110221", source="MESH:C567508", source="MONDO:Redundant", source="OMIM:611876"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1402 ! CACNB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1402 {source="MONDO:mim2gene_medgen"} ! CACNB2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4" xsd:anyURI {source="GARD:0010362"}

[Term]
id: MONDO:0012744
name: dilated cardiomyopathy 1Y
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15530", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1Y" RELATED [MONDO:Lexical, OMIM:611878]
synonym: "cardiomyopathy, dilated, type 1Y" EXACT [MONDORULE:4, OMIM:611878]
synonym: "CMD1Y" EXACT ABBREVIATION [DOID:0110457, MONDO:Lexical, OMIM:611878]
synonym: "dilated cardiomyopathy type 1Y" EXACT [DOID:0110457, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TPM1" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 9" RELATED [OMIM:611878]
synonym: "TPM1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110457 {source="MONDO:equivalentTo"}
xref: GARD:15530 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110457"}
xref: MEDGEN:437215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567507 {source="MONDO:equivalentTo"}
xref: OMIM:611878 {source="DOID:0110457", source="MONDO:equivalentTo"}
xref: Orphanet:54260 {source="OMIM:611878"}
xref: UMLS:C2678476 {source="MEDGEN:437215", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018901 {source="DC-OMIM:611878", source="OMIM:611878"} ! left ventricular noncompaction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12010 {source="MONDO:mim2gene_medgen"} ! TPM1

[Term]
id: MONDO:0012745
name: dilated cardiomyopathy 1Z
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15531", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1Z" RELATED [MONDO:Lexical, OMIM:611879]
synonym: "cardiomyopathy, dilated, type 1Z" EXACT [MONDORULE:4, OMIM:611879]
synonym: "CMD1Z" EXACT ABBREVIATION [DOID:0110434, MONDO:Lexical, OMIM:611879]
synonym: "dilated cardiomyopathy type 1Z" EXACT [DOID:0110434, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern]
synonym: "TNNC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110434 {source="MONDO:equivalentTo"}
xref: GARD:15531 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110434"}
xref: MEDGEN:395631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567506 {source="MONDO:equivalentTo"}
xref: OMIM:611879 {source="DOID:0110434", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:611879"}
xref: UMLS:C2678475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395631"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:611879"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11943 {source="MONDO:mim2gene_medgen"} ! TNNC1

[Term]
id: MONDO:0012746
name: dilated cardiomyopathy 2A
def: "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." [DOID:0110460, PMID:15070570]
subset: gard_rare {source="GARD:15532", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, congestive, autosomal recessive" RELATED [OMIM:611880]
synonym: "cardiomyopathy, dilated, 2A" RELATED [MONDO:Lexical, OMIM:611880]
synonym: "cardiomyopathy, dilated, autosomal recessive" RELATED [OMIM:611880]
synonym: "cardiomyopathy, dilated, type 2A" EXACT [MONDORULE:4, OMIM:611880]
synonym: "CMD2A" EXACT ABBREVIATION [DOID:0110460, MONDO:Lexical, OMIM:611880]
synonym: "dilated cardiomyopathy type 2A" EXACT [DOID:0110460, MONDORULE:4]
xref: DOID:0110460 {source="MONDO:equivalentTo"}
xref: GARD:15532 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110460"}
xref: MEDGEN:437214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611880 {source="MONDO:equivalentTo", source="DOID:0110460"}
xref: UMLS:C2678474 {source="MEDGEN:437214", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:611880"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3

[Term]
id: MONDO:0012747
name: glycogen storage disease due to aldolase A deficiency
def: "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported." [Orphanet:57]
subset: gard_rare {source="GARD:600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:57"}
subset: orphanet_rare {source="Orphanet:57"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aldoa deficiency" RELATED [OMIM:611881]
synonym: "aldolase a deficiency" RELATED [OMIM:611881]
synonym: "aldolase deficiency red cell" RELATED [GARD:0000600]
synonym: "aldolase deficiency, Red cell" RELATED [OMIM:611881]
synonym: "glycogen storage disease 12" RELATED [GARD:0000600, OMIM:611881]
synonym: "glycogen storage disease due to aldolase A deficiency" EXACT CLINGEN_LABEL []
synonym: "glycogen storage disease type 12" EXACT [MONDORULE:2, OMIM:611881, Orphanet:57]
synonym: "glycogen storage disease type XII" EXACT [Orphanet:57]
synonym: "glycogen storage disease XII" RELATED [MONDO:Lexical, OMIM:611881]
synonym: "glycogenosis due to aldolase A deficiency" EXACT [Orphanet:57]
synonym: "glycogenosis type 12" EXACT [Orphanet:57]
synonym: "glycogenosis type XII" EXACT [Orphanet:57]
synonym: "GSD 12" RELATED [OMIM:611881]
synonym: "GSD due to aldolase A deficiency" EXACT [Orphanet:57]
synonym: "GSD type 12" EXACT [Orphanet:57]
synonym: "GSD type XII" EXACT [Orphanet:57]
synonym: "GSD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611881]
synonym: "Red cell aldolase deficiency" RELATED [OMIM:611881]
xref: GARD:600 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:57/attributed", source="Orphanet:57/ntbt", source="Orphanet:57"}
xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562718 {source="MONDO:equivalentTo"}
xref: NANDO:1200834 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:611881 {source="Orphanet:57", source="MONDO:equivalentTo", source="Orphanet:57/e"}
xref: Orphanet:57 {source="OMIM:611881", source="MONDO:equivalentTo"}
xref: SCTID:111578003 {source="MONDO:equivalentTo"}
xref: UMLS:C0272066 {source="MEDGEN:82895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 ! hemolytic anemia
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
relationship: excluded_subClassOf MONDO:0002412 {source="DC-OMIM:611881", source="MESH:C562718", source="Orphanet:57", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glycogen metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/414 {source="MONDO:mim2gene_medgen"} ! ALDOA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0012748
name: primary ciliary dyskinesia 7
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15533", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD7" EXACT ABBREVIATION [DOID:0110605, MONDO:Lexical, OMIM:611884]
synonym: "ciliary dyskinesia, primary, 7" RELATED [MONDO:Lexical, OMIM:611884]
synonym: "ciliary dyskinesia, primary, 7, with or without situs inversus" RELATED [OMIM:611884]
synonym: "ciliary dyskinesia, primary, type 7" EXACT [MONDORULE:1, OMIM:611884]
synonym: "DNAH11 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 7" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT [DOID:0110605]
synonym: "primary ciliary dyskinesia caused by mutation in DNAH11" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 7" EXACT [DOID:0110605, MONDORULE:1]
xref: DOID:0110605 {source="MONDO:equivalentTo"}
xref: GARD:15533 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110605"}
xref: MEDGEN:394834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567504 {source="MONDO:equivalentTo"}
xref: OMIM:611884 {source="MONDO:equivalentTo", source="DOID:0110605"}
xref: UMLS:C2678473 {source="MEDGEN:394834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:611884", source="DOID:0110605", source="MESH:C567504", source="MESH:C567504/inferred", source="MONDO:Redundant", source="OMIM:611884"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2942 ! DNAH11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2942 {source="MONDO:mim2gene_medgen"} ! DNAH11

[Term]
id: MONDO:0012749
name: mesomelic dysplasia, camera type
synonym: "mesomelic dysplasia, camera type" EXACT [OMIM:611886]
xref: MEDGEN:394526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567503 {source="MONDO:equivalentTo"}
xref: OMIM:611886 {source="MONDO:equivalentTo"}
xref: UMLS:C2678472 {source="MEDGEN:394526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012750
name: lethal arthrogryposis-anterior horn cell disease syndrome
subset: gard_rare {source="GARD:16658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53696"}
subset: ordo_malformation_syndrome {source="Orphanet:53696"}
subset: orphanet_rare {source="Orphanet:53696"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital arthrogryposis with anterior horn cell disease" EXACT [OMIM:611890, OMIM:genemap2]
synonym: "LAAHD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611890, Orphanet:53696]
synonym: "lethal arthrogryposis with anterior horn cell disease" RELATED [MONDO:Lexical, OMIM:611890]
synonym: "Vuopala disease" EXACT [Orphanet:53696]
xref: GARD:16658 {source="MONDO:GARD"}
xref: MEDGEN:1677784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567502 {source="MONDO:equivalentTo"}
xref: OMIM:611890 {source="Orphanet:53696", source="MONDO:equivalentTo", source="Orphanet:53696/e"}
xref: Orphanet:53696 {source="OMIM:611890", source="MONDO:equivalentTo"}
xref: SCTID:715565004 {source="MONDO:equivalentTo"}
xref: UMLS:C5193016 {source="MEDGEN:1677784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015168 {source="Orphanet:53696"} ! arthrogryposis multiplex congenita
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4315 {source="MONDO:mim2gene_medgen"} ! GLE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012751
name: aortic aneurysm, familial abdominal, 3
subset: gard_rare {source="GARD:16493", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAA3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611891]
synonym: "aneurysm, familial abdominal 3" EXACT [OMIM:611891, OMIM:genemap2]
synonym: "aortic aneurysm, familial abdominal, 3" EXACT [MONDO:Lexical, OMIM:611891]
xref: GARD:16493 {source="MONDO:GARD"}
xref: MEDGEN:394525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567501 {source="MONDO:equivalentTo"}
xref: OMIM:611891 {source="MONDO:equivalentTo"}
xref: Orphanet:86 {source="OMIM:611891"}
xref: UMLS:C2678470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394525"}
is_a: MONDO:0007031 {source="OMIM:611891", source="Orphanet:86/btnt"} ! familial abdominal aortic aneurysm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012752
name: aneurysm, intracranial berry, 6
subset: gard_rare {source="GARD:18324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 6" RELATED [MONDO:Lexical, OMIM:611892]
synonym: "ANIB6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611892]
xref: DOID:0080969 {source="MONDO:equivalentTo"}
xref: GARD:18324 {source="MONDO:GARD"}
xref: MEDGEN:395630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567500 {source="MONDO:equivalentTo"}
xref: OMIM:611892 {source="MONDO:equivalentTo"}
xref: UMLS:C2678469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395630"}
is_a: MONDO:0016483 {source="DC-OMIM:611892", source="OMIM:611892"} ! intracranial berry aneurysm

[Term]
id: MONDO:0012753
name: amyotrophic lateral sclerosis type 9
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS9" EXACT ABBREVIATION [DOID:0060200, MONDO:Lexical, OMIM:611895]
synonym: "amyotrophic lateral sclerosis 9" EXACT [DOID:0060200, MONDO:Lexical, OMIM:611895]
synonym: "amyotrophic lateral sclerosis caused by mutation in ANG" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 9" EXACT [MONDORULE:1, OMIM:611895]
synonym: "ANG amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060200 {source="MONDO:equivalentTo"}
xref: GARD:10498 {source="MONDO:GARD"}
xref: MEDGEN:395629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567499 {source="MONDO:equivalentTo"}
xref: OMIM:611895 {source="DOID:0060200", source="MONDO:equivalentTo"}
xref: Orphanet:803 {source="OMIM:611895"}
xref: UMLS:C2678468 {source="MEDGEN:395629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DC-OMIM:611895", source="DOID:0060200", source="MESH:C567499", source="MONDO:Redundant", source="OMIM:611895"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/483 ! ANG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/483 {source="MONDO:mim2gene_medgen"} ! ANG
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10498/amyotrophic-lateral-sclerosis-type-9" xsd:anyURI {source="GARD:0010498"}

[Term]
id: MONDO:0012754
name: nanophthalmos 3
subset: gard_rare {source="GARD:18627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Nanophthalmia 3" RELATED [OMIM:611897]
synonym: "nanophthalmos 3" EXACT [MONDO:Lexical, OMIM:611897]
synonym: "NNO3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611897]
xref: GARD:18627 {source="MONDO:GARD"}
xref: MEDGEN:395628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567498 {source="MONDO:equivalentTo"}
xref: OMIM:611897 {source="MONDO:equivalentTo"}
xref: Orphanet:35612 {source="OMIM:611897"}
xref: UMLS:C2678467 {source="MEDGEN:395628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005514 {source="DC-OMIM:611897"} ! nanophthalmia
is_a: MONDO:0021129 {source="MESH:C567498", source="MONDO:Redundant", source="OMIM:611897", source="Orphanet:35612/btnt"} ! microphthalmia

[Term]
id: MONDO:0012755
name: episodic ataxia type 7
def: "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." [Orphanet:209970]
subset: gard_rare {source="GARD:17108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209970"}
subset: orphanet_rare {source="Orphanet:209970"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611907]
synonym: "episodic ataxia, type 7" RELATED [MONDO:Lexical, OMIM:611907]
xref: DOID:0050995 {source="MONDO:equivalentTo"}
xref: GARD:17108 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:209970", source="Orphanet:209970/attributed", source="Orphanet:209970/ntbt"}
xref: MEDGEN:383209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567459 {source="MONDO:equivalentTo"}
xref: OMIM:611907 {source="DOID:0050995", source="MONDO:equivalentTo", source="Orphanet:209970", source="Orphanet:209970/e"}
xref: Orphanet:209970 {source="OMIM:611907", source="MONDO:equivalentTo"}
xref: SCTID:718752007 {source="MONDO:equivalentTo"}
xref: UMLS:C2677843 {source="MEDGEN:383209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016227 {source="DOID:0050995", source="OMIM:611907", source="Orphanet:209970"} ! hereditary episodic ataxia

[Term]
id: MONDO:0012756
name: proximal 16p11.2 microdeletion syndrome
def: "A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." [Orphanet:261197]
subset: gard_rare {source="GARD:10740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261197"}
subset: ordo_malformation_syndrome {source="Orphanet:261197"}
subset: orphanet_rare {source="Orphanet:261197"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "16p11.2 deletion syndrome" RELATED [GARD:0010740]
synonym: "autism susceptibility 14A" EXACT [OMIM:611913, OMIM:genemap2]
synonym: "autism, susceptibility to, 14A" RELATED [OMIM:611913]
synonym: "chromosome 16p11.2 deletion syndrome" RELATED [GARD:0010740]
synonym: "chromosome 16p11.2 deletion syndrome, 593-KB" RELATED [OMIM:611913]
synonym: "chromosome 16p11.2 deletion syndrome, 593kb" EXACT [OMIM:611913, OMIM:genemap2]
synonym: "Del(16)(p11.2)" RELATED [GARD:0010740]
synonym: "microdeletion 16p11.2" RELATED [GARD:0010740]
synonym: "monosomy 16p11.2" RELATED [GARD:0010740]
synonym: "proximal del(16)(p11.2)" EXACT [Orphanet:261197]
synonym: "proximal monosomy 16p11.2" EXACT [Orphanet:261197]
xref: DOID:0070515 {source="MONDO:equivalentTo"}
xref: GARD:10740 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261197/attributed", source="Orphanet:261197/ntbt", source="Orphanet:261197"}
xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:461504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579850 {source="MONDO:equivalentTo"}
xref: NCIT:C120408 {source="MONDO:equivalentTo"}
xref: OMIM:611913 {source="GARD:0010740", source="Orphanet:261197", source="MONDO:equivalentTo", source="Orphanet:261197/e"}
xref: Orphanet:106 {source="OMIM:611913"}
xref: Orphanet:261197 {source="GARD:0010740", source="MONDO:equivalentTo", source="OMIM:611913"}
xref: SCTID:699307007 {source="MONDO:equivalentTo"}
xref: SCTID:718227006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C3150154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461504"}
is_a: MONDO:0000761 {source="DC-OMIM:611913"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016894 {source="Orphanet:261197"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019040 {source="MESH:C579850", source="MONDO:Redundant", source="Orphanet:261197/inferred"} ! chromosomal disorder
relationship: disease_arises_from_structure CHR:9606-chr16p11.2 {source="https://orcid.org/0000-0002-4142-7153"} ! 16p11.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
relationship: predisposes_towards MONDO:0005260 {source="DC-OMIM:611913", source="OMIM:611913"} ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome" xsd:anyURI {source="GARD:0010740"}

[Term]
id: MONDO:0012757
name: lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
def: "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." [Orphanet:137631]
subset: gard_rare {source="GARD:16947", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:137631"}
subset: orphanet_rare {source="Orphanet:137631"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" RELATED [OMIM:611926]
xref: GARD:16947 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="Orphanet:137631", source="Orphanet:137631/attributed", source="Orphanet:137631/ntbt"}
xref: MEDGEN:461506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611926 {source="Orphanet:137631", source="MONDO:equivalentTo", source="Orphanet:137631/e"}
xref: Orphanet:137631 {source="MONDO:equivalentTo", source="OMIM:611926"}
xref: SCTID:721977007 {source="MONDO:equivalentTo"}
xref: UMLS:C3150156 {source="MEDGEN:461506", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:137631", source="Orphanet:137631/inferred"} ! respiratory system disorder
is_a: MONDO:0017015 {source="Orphanet:137631"} ! primary interstitial lung disease specific to childhood
is_a: MONDO:0044200 {source="Orphanet:137631"} ! T-B+ severe combined immunodeficiency
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare

[Term]
id: MONDO:0012758
name: prostate cancer, hereditary, 13
def: "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15534", source="MONDO:GARD"}
subset: rare
synonym: "familial prostate cancer caused by mutation in MSMB" EXACT [MONDO:design_pattern]
synonym: "HPC13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611928]
synonym: "MSMB familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "prostate cancer, hereditary, 13" EXACT [MONDO:Lexical, OMIM:611928]
synonym: "prostate cancer, hereditary, type 13" EXACT [MONDORULE:2, OMIM:611928]
xref: GARD:15534 {source="MONDO:GARD"}
xref: MEDGEN:383198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567456 {source="MONDO:equivalentTo"}
xref: OMIM:611928 {source="MONDO:equivalentTo"}
xref: Orphanet:1331 {source="OMIM:611928"}
xref: UMLS:C2677821 {source="MEDGEN:383198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:611928", source="MONDO:0012758/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 {source="MONDO:Redundant"} ! familial prostate carcinoma
intersection_of: MONDO:0023122 ! familial prostate carcinoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7372 ! MSMB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7372 {source="MONDO:mim2gene_medgen"} ! MSMB

[Term]
id: MONDO:0012759
name: camptodactyly syndrome, Guadalajara type 3
def: "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age." [Orphanet:488434]
subset: gard_rare {source="GARD:10573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488434"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488434"}
subset: rare
synonym: "camptodactyly syndrome Guadalajara type 3" RELATED [GARD:0010573]
synonym: "camptodactyly syndrome, Guadalajara, type 3" RELATED [OMIM:611929]
synonym: "camptodactyly syndrome, Guadalajara, type III" RELATED [OMIM:611929]
xref: GARD:10573 {source="MONDO:GARD"}
xref: MEDGEN:394371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567455 {source="MONDO:equivalentTo"}
xref: OMIM:611929 {source="Orphanet:488434", source="MONDO:equivalentTo"}
xref: Orphanet:488434 {source="MONDO:equivalentTo"}
xref: UMLS:C2677809 {source="MEDGEN:394371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000111 {source="DC-OMIM:611929"} ! camptodactyly syndrome, Guadalajara
is_a: MONDO:0015159 {source="Orphanet:488434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488434", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3" xsd:anyURI {source="GARD:0010573"}

[Term]
id: MONDO:0012760
name: epilepsy, idiopathic generalized, susceptibility to, 5
subset: predisposition
synonym: "EIG5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611934]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:611934]
synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:611934]
xref: DOID:0111320 {source="MONDO:equivalentTo"}
xref: MEDGEN:393842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611934 {source="MONDO:equivalentTo"}
xref: UMLS:C2677808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393842"}
is_a: MONDO:0020573 {source="OMIM:611934"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005579 {source="DC-OMIM:611934", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:611934"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0012761
name: chromosome 3q29 microduplication syndrome
def: "3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly." [https://orcid.org/0000-0002-0736-9199, PMID:18241066]
subset: gard_rare {source="GARD:10360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251038"}
subset: ordo_malformation_syndrome {source="Orphanet:251038"}
subset: orphanet_rare {source="Orphanet:251038"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3q29 microduplication" EXACT [DOID:0060459]
synonym: "3q29 microduplication syndrome" EXACT [DECIPHER:77, Orphanet:251038]
synonym: "chromosome 3q29 DUPLICATION syndrome" RELATED [OMIM:611936]
synonym: "microduplication 3Q29 syndrome" RELATED [OMIM:611936]
synonym: "trisomy 3q29" EXACT [DOID:0060459, Orphanet:251038]
xref: DECIPHER:77 {source="MONDO:equivalentTo"}
xref: DOID:0060459 {source="MONDO:equivalentTo"}
xref: GARD:10360 {source="MONDO:GARD"}
xref: MEDGEN:440897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567626 {source="MONDO:equivalentTo", source="DOID:0060459"}
xref: OMIM:611936 {source="MONDO:equivalentTo", source="DOID:0060459", source="Orphanet:251038", source="Orphanet:251038/e"}
xref: Orphanet:251038 {source="MONDO:equivalentTo", source="DOID:0060459", source="OMIM:611936"}
xref: SCTID:717973004 {source="MONDO:equivalentTo"}
xref: UMLS:C2749873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440897"}
is_a: MONDO:0000762 {source="DC-OMIM:611936", source="DOID:0060459"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016954 {source="Orphanet:251038"} ! partial duplication of the long arm of chromosome 3
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr3q29 ! 3q29 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome" xsd:anyURI {source="GARD:0010360"}

[Term]
id: MONDO:0012762
name: catecholaminergic polymorphic ventricular tachycardia 2
def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15535", source="MONDO:GARD"}
subset: rare
synonym: "CASQ2 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "catecholaminergic polymorphic ventricular tachycardia 2" EXACT CLINGEN_LABEL []
synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2" EXACT [MONDO:design_pattern]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 2" EXACT [DOID:0060676, MONDORULE:1]
synonym: "CPVT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611938]
synonym: "CVPT2" EXACT ABBREVIATION [DOID:0060676]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 2" RELATED [MONDO:Lexical, OMIM:611938]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 2" EXACT [MONDORULE:1, OMIM:611938]
synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [OMIM:611938]
xref: DOID:0060676 {source="MONDO:equivalentTo"}
xref: GARD:15535 {source="MONDO:GARD"}
xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060676"}
xref: MEDGEN:393837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C148368 {source="MONDO:equivalentTo"}
xref: OMIM:611938 {source="MONDO:equivalentTo", source="DOID:0060676"}
xref: Orphanet:3286 {source="OMIM:611938"}
xref: UMLS:C2677794 {source="MEDGEN:393837", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017990 {source="DC-OMIM:611938", source="DOID:0060676", source="MONDO:Redundant", source="OMIM:611938"} ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: MONDO:0017990 ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1513 ! CASQ2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1513 {source="MONDO:mim2gene_medgen"} ! CASQ2

[Term]
id: MONDO:0012763
name: epilepsy, childhood absence, susceptibility to, 6
def: "An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
subset: predisposition
synonym: "CACNA1H childhood absence epilepsy" RELATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "childhood absence epilepsy caused by mutation in CACNA1H" RELATED [MONDO:design_pattern]
synonym: "ECA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611942]
synonym: "epilepsy, childhood absence, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:611942]
synonym: "epilepsy, childhood absence, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:611942]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 6" RELATED [OMIM:611942]
synonym: "susceptibility to childhood absence epilepsy 6" EXACT [OMIM:611942]
xref: MEDGEN:440896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611942 {source="MONDO:equivalentTo"}
xref: Orphanet:64280 {source="OMIM:611942"}
xref: UMLS:C2749872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440896"}
is_a: MONDO:0020573 {source="OMIM:611942"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1395 {source="MONDO:mim2gene_medgen"} ! CACNA1H
relationship: predisposes_towards MONDO:0005579 {source="OMIM:611942"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0010826 {source="OMIM:611942"} ! childhood absence epilepsy

[Term]
id: MONDO:0012764
name: RIDDLE syndrome
def: "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29." [DOID:0090113]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420741"}
subset: ordo_malformation_syndrome {source="Orphanet:420741"}
subset: orphanet_rare {source="Orphanet:420741"}
subset: rare
synonym: "radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties" RELATED [OMIM:611943]
synonym: "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT [DOID:0090113, Orphanet:420741]
synonym: "RIDDLE syndrome" EXACT CLINGEN_LABEL [OMIM:611943]
synonym: "RNF168 deficiency" EXACT [DOID:0090113, Orphanet:420741]
xref: DOID:0090113 {source="MONDO:equivalentTo"}
xref: GARD:17701 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="Orphanet:420741/attributed", source="Orphanet:420741/ntbt", source="Orphanet:420741", source="DOID:0090113"}
xref: MEDGEN:394368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567453 {source="MONDO:equivalentTo"}
xref: NANDO:1200336 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200710 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:611943 {source="Orphanet:420741", source="DOID:0090113", source="MONDO:equivalentTo", source="Orphanet:420741/e"}
xref: Orphanet:420741 {source="DOID:0090113", source="MONDO:equivalentTo", source="OMIM:611943"}
xref: UMLS:C2677792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394368"}
is_a: MONDO:0015244 {source="EFO:0009055", source="Orphanet:420741"} ! autosomal recessive cerebellar ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26661 {source="MONDO:mim2gene_medgen"} ! RNF168

[Term]
id: MONDO:0012765
name: lymphatic malformation 2
subset: gard_rare {source="GARD:16453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LMPH1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611944]
synonym: "lymphedema, hereditary, 1B" EXACT [MONDO:Lexical, OMIM:611944]
xref: DOID:0070211 {source="MONDO:equivalentTo"}
xref: GARD:16453 {source="MONDO:GARD"}
xref: MEDGEN:1648459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567452 {source="MONDO:equivalentTo"}
xref: OMIM:611944 {source="MONDO:equivalentTo"}
xref: Orphanet:79452 {source="OMIM:611944"}
xref: UMLS:C4747568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648459"}
is_a: MONDO:0019313 {source="OMIM:611944", source="Orphanet:79452/btnt"} ! lymphatic malformation

[Term]
id: MONDO:0012766
name: hereditary spastic paraplegia 37
def: "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients." [Orphanet:171612]
subset: gard_rare {source="GARD:17064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171612"}
subset: orphanet_rare {source="Orphanet:171612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 37" EXACT [DOID:0110788]
synonym: "autosomal dominant spastic paraplegia type 37" EXACT [DOID:0110788]
synonym: "hereditary spastic paraplegia type 37" EXACT [DOID:0110788, MONDORULE:2]
synonym: "spastic paraplegia 37, autosomal dominant" RELATED [MONDO:Lexical, OMIM:611945]
synonym: "SPG37" EXACT ABBREVIATION [DOID:0110788, MONDO:Lexical, OMIM:611945, Orphanet:171612]
xref: DOID:0110788 {source="MONDO:equivalentTo"}
xref: GARD:17064 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110788", source="Orphanet:171612/attributed", source="Orphanet:171612/ntbt", source="Orphanet:171612"}
xref: MEDGEN:422458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567931 {source="MONDO:equivalentTo"}
xref: OMIM:611945 {source="DOID:0110788", source="Orphanet:171612/e", source="MONDO:equivalentTo", source="Orphanet:171612"}
xref: Orphanet:171612 {source="DOID:0110788", source="MONDO:equivalentTo", source="OMIM:611945"}
xref: SCTID:763369007 {source="MONDO:equivalentTo"}
xref: UMLS:C2936880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:422458"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110788", source="MESH:C567931", source="MONDO:Redundant", source="OMIM:611945", source="Orphanet:171612/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0012767
name: age related macular degeneration 11
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 11" EXACT [DOID:0110023, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in CST3" EXACT [MONDO:design_pattern]
synonym: "ARMD11" EXACT ABBREVIATION [DOID:0110023, MONDO:Lexical, OMIM:611953]
synonym: "CST3 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 11" RELATED [MONDO:Lexical, OMIM:611953]
synonym: "macular Degeneration, age-related, type 11" EXACT [MONDORULE:2, OMIM:611953]
xref: DOID:0110023 {source="MONDO:equivalentTo"}
xref: MEDGEN:393833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567450 {source="MONDO:equivalentTo"}
xref: OMIM:611953 {source="MONDO:equivalentTo", source="DOID:0110023"}
xref: UMLS:C2677774 {source="MEDGEN:393833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:611953", source="DOID:0110023", source="MONDO:Redundant", source="OMIM:611953"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2475 ! CST3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2475 {source="MONDO:mim2gene_medgen"} ! CST3

[Term]
id: MONDO:0012768
name: prostate cancer, hereditary, 11
subset: gard_rare {source="GARD:15536", source="MONDO:GARD"}
subset: rare
synonym: "HPC11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611955]
synonym: "prostate cancer, hereditary, 11" EXACT [MONDO:Lexical, OMIM:611955]
xref: GARD:15536 {source="MONDO:GARD"}
xref: MEDGEN:394363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567449 {source="MONDO:equivalentTo"}
xref: OMIM:611955 {source="MONDO:equivalentTo"}
xref: UMLS:C2677773 {source="MEDGEN:394363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:611955", source="MONDO:0012768/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0012769
name: prostate cancer, hereditary, 14
subset: gard_rare {source="GARD:15537", source="MONDO:GARD"}
subset: rare
synonym: "HPC14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611958]
synonym: "prostate cancer, hereditary, 14" EXACT [MONDO:Lexical, OMIM:611958]
xref: GARD:15537 {source="MONDO:GARD"}
xref: MEDGEN:393832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567448 {source="MONDO:equivalentTo"}
xref: OMIM:611958 {source="MONDO:equivalentTo"}
xref: Orphanet:1331 {source="OMIM:611958"}
xref: UMLS:C2677772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393832"}
is_a: MONDO:0008315 {source="DC-OMIM:611958", source="MONDO:0012769/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0012770
name: prostate cancer, hereditary, 15
subset: gard_rare {source="GARD:15538", source="MONDO:GARD"}
subset: rare
synonym: "HPC15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611959]
synonym: "prostate cancer, hereditary, 15" EXACT [MONDO:Lexical, OMIM:611959]
xref: GARD:15538 {source="MONDO:GARD"}
xref: MEDGEN:437036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567447 {source="MONDO:equivalentTo"}
xref: OMIM:611959 {source="MONDO:equivalentTo"}
xref: Orphanet:1331 {source="OMIM:611959"}
xref: UMLS:C2677771 {source="MEDGEN:437036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008315 {source="DC-OMIM:611959", source="MONDO:0012770/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 ! familial prostate carcinoma

[Term]
id: MONDO:0012771
name: asthma-related traits, susceptibility to, 7
def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ASRT7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611960]
synonym: "asthma-RELATED traits, susceptibility to, 7" RELATED [OMIM:611960]
synonym: "asthma-related traits, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:611960]
synonym: "asthma-related traits, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:611960]
synonym: "CHI3L1 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inherited susceptibility to asthma caused by mutation in CHI3L1" EXACT [MONDO:design_pattern]
xref: MEDGEN:394362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611960 {source="MONDO:equivalentTo"}
xref: UMLS:C2677770 {source="MONDO:equivalentTo", source="MEDGEN:394362", source="MONDO:MEDGEN"}
is_a: MONDO:0010940 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma
intersection_of: MONDO:0010940 ! inherited susceptibility to asthma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1932 ! CHI3L1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1932 {source="MONDO:mim2gene_medgen"} ! CHI3L1

[Term]
id: MONDO:0012772
name: Stevenson-Carey syndrome
synonym: "Stevenson-Carey syndrome" EXACT [OMIM:611961]
xref: MEDGEN:383183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567446 {source="MONDO:equivalentTo"}
xref: OMIM:611961 {source="MONDO:equivalentTo"}
xref: UMLS:C2677763 {source="MEDGEN:383183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012773
name: Hunter-Macdonald syndrome
synonym: "Hunter-Macdonald syndrome" EXACT [OMIM:611962]
xref: MEDGEN:383181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567445 {source="MONDO:equivalentTo"}
xref: OMIM:611962 {source="MONDO:equivalentTo"}
xref: UMLS:C2677745 {source="MEDGEN:383181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012774
name: chromosome 15q13.3 microdeletion syndrome
def: "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." [Orphanet:199318]
subset: gard_rare {source="GARD:10296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199318"}
subset: ordo_malformation_syndrome {source="Orphanet:199318"}
subset: orphanet_rare {source="Orphanet:199318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "15q13.3 microdeletion" RELATED [GARD:0010296]
synonym: "15q13.3 microdeletion syndrome" EXACT [DOID:0060394]
synonym: "chromosome 15q13.3 deletion syndrome" RELATED [OMIM:612001]
synonym: "chromosome 15q13.3 microdeletion syndrome" EXACT [OMIM:612001]
synonym: "Del(15)(q13.3)" EXACT [Orphanet:199318]
synonym: "microdeletion 15q13.3 syndrome" RELATED [GARD:0010296]
synonym: "monosomy 15q13.3" EXACT [Orphanet:199318]
xref: DECIPHER:74 {source="MONDO:equivalentTo"}
xref: DOID:0060394 {source="MONDO:equivalentTo"}
xref: GARD:10296 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:199318", source="Orphanet:199318/attributed", source="Orphanet:199318/ntbt", source="DOID:0060394"}
xref: MEDGEN:393784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567439 {source="MONDO:equivalentTo", source="DOID:0060394"}
xref: OMIM:612001 {source="Orphanet:199318/e", source="MONDO:equivalentTo", source="Orphanet:199318", source="DOID:0060394"}
xref: Orphanet:199318 {source="OMIM:612001", source="MONDO:equivalentTo", source="DOID:0060394"}
xref: SCTID:699254009 {source="MONDO:equivalentTo"}
xref: UMLS:C2677613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393784"}
is_a: MONDO:0000761 {source="DC-OMIM:612001", source="DOID:0060394"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:199318"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016913 {source="Orphanet:199318"} ! partial deletion of the long arm of chromosome 15
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr15q13.3 ! 15q13.3 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:199318", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015955", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012775
name: thrombocytopenia 4
def: "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18289", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CYCS thrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612004]
synonym: "thrombocytopenia 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612004]
synonym: "thrombocytopenia caused by mutation in CYCS" EXACT [MONDO:design_pattern]
synonym: "thrombocytopenia type 4" EXACT [MONDORULE:1, OMIM:612004]
synonym: "thrombocytopenia, autosomal dominant, 4" RELATED [OMIM:612004]
xref: GARD:18289 {source="MONDO:GARD"}
xref: MEDGEN:394329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567438 {source="MONDO:equivalentTo"}
xref: OMIM:612004 {source="MONDO:equivalentTo"}
xref: Orphanet:168629 {source="OMIM:612004"}
xref: Orphanet:268322 {source="OMIM:612004"}
xref: UMLS:C2677608 {source="MEDGEN:394329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100241 {source="DC-OMIM:612004", source="MESH:C567438", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia
intersection_of: MONDO:0100241 ! inherited thrombocytopenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19986 ! CYCS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19986 {source="MONDO:mim2gene_medgen"} ! CYCS

[Term]
id: MONDO:0012776
name: celiac disease, susceptibility to, 7
subset: predisposition
synonym: "celiac disease, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612005]
synonym: "CELIAC7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612005]
synonym: "gluten-sensitive enteropathy, susceptibility to, 7" RELATED [OMIM:612005]
xref: MEDGEN:394328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612005 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:612005"}
xref: UMLS:C2677607 {source="MEDGEN:394328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:612005", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="OMIM:612005", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:612005"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012777
name: celiac disease, susceptibility to, 8
subset: predisposition
synonym: "celiac disease, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612006]
synonym: "CELIAC8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612006]
synonym: "gluten-sensitive enteropathy, susceptibility to, 8" RELATED [OMIM:612006]
xref: MEDGEN:394327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612006 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:612006"}
xref: UMLS:C2677606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394327"}
is_a: MONDO:0020573 {source="OMIM:612006", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="OMIM:612006", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:612006"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012778
name: celiac disease, susceptibility to, 9
subset: predisposition
synonym: "celiac disease, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:612007]
synonym: "CELIAC9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612007]
synonym: "gluten-sensitive enteropathy, susceptibility to, 9" RELATED [OMIM:612007]
xref: MEDGEN:393783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612007 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:612007"}
xref: UMLS:C2677605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393783"}
is_a: MONDO:0020573 {source="OMIM:612007", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="OMIM:612007", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:612007"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012779
name: celiac disease, susceptibility to, 10
subset: predisposition
synonym: "celiac disease, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:612008]
synonym: "CELIAC10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612008]
synonym: "gluten-sensitive enteropathy, susceptibility to, 10" RELATED [OMIM:612008]
xref: MEDGEN:394326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612008 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:612008"}
xref: UMLS:C2677604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394326"}
is_a: MONDO:0020573 {source="OMIM:612008", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="DC-OMIM:612008", source="OMIM:612008", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:612008"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012780
name: celiac disease, susceptibility to, 11
subset: predisposition
synonym: "celiac disease, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:612009]
synonym: "CELIAC11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612009]
synonym: "gluten-sensitive enteropathy, susceptibility to, 11" RELATED [OMIM:612009]
xref: MEDGEN:393782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612009 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:612009"}
xref: UMLS:C2677603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393782"}
is_a: MONDO:0020573 {source="OMIM:612009", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="DC-OMIM:612009", source="OMIM:612009", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:612009"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012781
name: celiac disease, susceptibility to, 12
subset: predisposition
synonym: "celiac disease, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:612010]
synonym: "CELIAC12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612010]
synonym: "gluten-sensitive enteropathy, susceptibility to, 12" RELATED [OMIM:612010]
xref: MEDGEN:436989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612010 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:612010"}
xref: UMLS:C2677602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436989"}
is_a: MONDO:0020573 {source="OMIM:612010", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="OMIM:612010", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:612010"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012782
name: celiac disease, susceptibility to, 13
subset: predisposition
synonym: "celiac disease, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:612011]
synonym: "CELIAC13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612011]
synonym: "gluten-sensitive enteropathy, susceptibility to, 13" RELATED [OMIM:612011]
xref: MEDGEN:383149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612011 {source="MONDO:equivalentTo"}
xref: Orphanet:555 {source="OMIM:612011"}
xref: UMLS:C2677601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383149"}
is_a: MONDO:0020573 {source="OMIM:612011", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005130 {source="OMIM:612011", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease
relationship: predisposes_towards MONDO:0005130 {source="OMIM:612011"} ! celiac disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012783
name: RFT1-congenital disorder of glycosylation
def: "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." [Orphanet:244310]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:244310"}
subset: orphanet_rare {source="Orphanet:244310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type In" EXACT [Orphanet:244310]
synonym: "CDG in" RELATED [OMIM:612015]
synonym: "CDG syndrome type In" EXACT [Orphanet:244310]
synonym: "CDG-In" EXACT [Orphanet:244310]
synonym: "CDG1N" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612015, Orphanet:244310]
synonym: "CDGIN" RELATED ABBREVIATION [GARD:0012394]
synonym: "congenital disorder of glycosylation type 1n" EXACT [Orphanet:244310]
synonym: "congenital disorder of glycosylation type In" EXACT [Orphanet:244310]
synonym: "congenital disorder of glycosylation, type In" RELATED [MONDO:Lexical, OMIM:612015]
synonym: "Man5GlcNAc2-PP-Dol flippase deficiency" EXACT [Orphanet:244310]
synonym: "RFT1-CDG" EXACT ABBREVIATION [Orphanet:244310]
synonym: "RFT1-CDG (CDG-In)" RELATED [GARD:0012394]
synonym: "RFT1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0080566 {source="MONDO:equivalentTo"}
xref: GARD:12394 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:244310/attributed", source="Orphanet:244310/ntbt", source="Orphanet:244310"}
xref: MEDGEN:383145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567437 {source="MONDO:equivalentTo"}
xref: OMIM:612015 {source="Orphanet:244310", source="MONDO:equivalentTo", source="Orphanet:244310/e"}
xref: Orphanet:244310 {source="OMIM:612015", source="MONDO:equivalentTo"}
xref: SCTID:733084000 {source="MONDO:equivalentTo"}
xref: UMLS:C2677590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383145"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:612015"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C567437", source="MONDO:0012783/inferred", source="MONDO:Redundant", source="OMIM:612015", source="Orphanet:244310/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017740 {source="Orphanet:244310"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30220 {source="MONDO:mim2gene_medgen"} ! RFT1

[Term]
id: MONDO:0012784
name: autosomal recessive ataxia due to ubiquinone deficiency
def: "This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy." [Orphanet:139485]
subset: gard_rare {source="GARD:10294", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139485"}
subset: orphanet_rare {source="Orphanet:139485"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCA2" EXACT ABBREVIATION [Orphanet:139485]
synonym: "autosomal recessive ataxia due to coenzyme Q10 deficiency" EXACT [Orphanet:139485]
synonym: "autosomal recessive cerebellar ataxia type 2" EXACT [Orphanet:139485]
synonym: "autosomal recessive spinocerebellar ataxia 9" RELATED [GARD:0010294]
synonym: "autosomal recessive spinocerebellar ataxia type 9" EXACT [Orphanet:139485]
synonym: "coenzyme Q10 deficiency, primary, 4" RELATED [MONDO:Lexical, OMIM:612016]
synonym: "coenzyme Q10 deficiency, primary, type 4" EXACT [MONDORULE:1, OMIM:612016]
synonym: "COQ10D4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612016]
synonym: "SCAR9" EXACT ABBREVIATION [Orphanet:139485]
synonym: "spinocerebellar ataxia, autosomal recessive 9" RELATED [OMIM:612016]
xref: DOID:0070241 {source="MONDO:equivalentTo"}
xref: GARD:10294 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:139485/attributed", source="Orphanet:139485/ntbt", source="Orphanet:139485"}
xref: MEDGEN:436985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567436 {source="MONDO:equivalentTo"}
xref: OMIM:612016 {source="Orphanet:139485/e", source="MONDO:equivalentTo", source="Orphanet:139485"}
xref: Orphanet:139485 {source="OMIM:612016", source="MONDO:equivalentTo"}
xref: SCTID:725394006 {source="MONDO:equivalentTo"}
xref: UMLS:C2677589 {source="MEDGEN:436985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="Orphanet:139485"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0018151 {source="DC-OMIM:612016", source="OMIM:612016", source="Orphanet:139485"} ! coenzyme Q10 deficiency
intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia
intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16812 {source="MONDO:mim2gene_medgen"} ! COQ8A

[Term]
id: MONDO:0012785
name: pyloric stenosis, infantile hypertrophic, 3
synonym: "IHPS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612017]
synonym: "pyloric stenosis, infantile hypertrophic, 3" EXACT [MONDO:Lexical, OMIM:612017]
xref: MEDGEN:383144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567435 {source="MONDO:equivalentTo"}
xref: OMIM:612017 {source="MONDO:equivalentTo"}
xref: UMLS:C2677588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383144"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100239 {source="DC-OMIM:612017", source="MESH:C567435", source="OMIM:612017"} ! inherited hypertrophic pyloric stenosis

[Term]
id: MONDO:0012786
name: juvenile cataract-microcornea-renal glucosuria syndrome
def: "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." [Orphanet:247794]
subset: gard_rare {source="GARD:17196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247794"}
subset: orphanet_rare {source="Orphanet:247794"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract 47" RELATED [OMIM:612018]
synonym: "cataract 47, juvenile, with microcornea" EXACT [OMIM:612018, OMIM:genemap2]
synonym: "cataract, juvenile, with microcornea" RELATED [OMIM:612018]
synonym: "cataract, juvenile, with microcornea and glucosuria" RELATED [MONDO:Lexical, OMIM:612018]
synonym: "cataract, juvenile, with microcornea and glucosuria, formerly" RELATED [OMIM:612018]
synonym: "CJMG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612018]
synonym: "CTRCT47" RELATED ABBREVIATION [OMIM:612018]
synonym: "juvenile cataract-microcornea-renal glucosuria syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0070353 {source="MONDO:equivalentTo"}
xref: GARD:17196 {source="MONDO:GARD"}
xref: MEDGEN:934773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567434 {source="MONDO:equivalentTo"}
xref: OMIM:612018 {source="Orphanet:247794/e", source="MONDO:equivalentTo", source="Orphanet:247794"}
xref: Orphanet:247794 {source="MONDO:equivalentTo", source="OMIM:612018"}
xref: SCTID:722457005 {source="MONDO:equivalentTo"}
xref: UMLS:C4310806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934773"}
is_a: MONDO:0017706 {source="Orphanet:247794"} ! disorder of carbohydrate transmembrane transport and absorption
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:247794", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic HP:0000006 {source="https://orcid.org/0000-0002-4142-7153"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23094 {source="MONDO:mim2gene_medgen"} ! SLC16A12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012787
name: hereditary spastic paraplegia 39
def: "This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting." [Orphanet:139480]
subset: gard_rare {source="GARD:4924", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139480"}
subset: orphanet_rare {source="Orphanet:139480"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 39" EXACT [DOID:0110790]
synonym: "autosomal recessive spastic paraplegia type 39" EXACT [DOID:0110790]
synonym: "hereditary spastic paraplegia caused by mutation in PNPLA6" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 39" EXACT [DOID:0110790, MONDORULE:2]
synonym: "NTE related motor neuron disorder" RELATED [GARD:0004924]
synonym: "NTE-related motor neuron disorder" EXACT [DOID:0110790, OMIM:612020]
synonym: "NTEMND" EXACT ABBREVIATION [DOID:0110790]
synonym: "PNPLA6 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 39" RELATED [GARD:0004924]
synonym: "spastic paraplegia 39, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612020]
synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT [DOID:0110790, Orphanet:139480]
synonym: "spastic paraplegia due to NTE mutation" EXACT [DOID:0110790, Orphanet:139480]
synonym: "SPG39" EXACT ABBREVIATION [DOID:0110790, MONDO:Lexical, OMIM:612020, Orphanet:139480]
xref: DOID:0110790 {source="MONDO:equivalentTo"}
xref: GARD:4924 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:139480", source="DOID:0110790", source="Orphanet:139480/attributed", source="Orphanet:139480/ntbt"}
xref: MEDGEN:383142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567433 {source="MONDO:equivalentTo"}
xref: OMIM:612020 {source="MONDO:equivalentTo", source="Orphanet:139480", source="DOID:0110790", source="Orphanet:139480/e"}
xref: Orphanet:139480 {source="MONDO:equivalentTo", source="DOID:0110790", source="OMIM:612020"}
xref: SCTID:719103009 {source="MONDO:equivalentTo"}
xref: UMLS:C2677586 {source="MONDO:equivalentTo", source="MEDGEN:383142", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0019064 {source="DOID:0110790", source="MESH:C567433", source="MONDO:Redundant", source="OMIM:612020", source="Orphanet:139480/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 ! PNPLA6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="MONDO:mim2gene_medgen"} ! PNPLA6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0012788
name: coronary heart disease, susceptibility to, 9
subset: predisposition
synonym: "CHDS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612030]
synonym: "coronary heart disease, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:612030]
xref: MEDGEN:436983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612030 {source="MONDO:equivalentTo"}
xref: UMLS:C2677580 {source="MEDGEN:436983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:612030", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
relationship: predisposes_towards MONDO:0005010 {source="OMIM:612030"} ! coronary artery disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012789
name: dystonia 16
def: "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." [Orphanet:210571]
subset: gard_rare {source="GARD:10539", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210571"}
subset: orphanet_rare {source="Orphanet:210571"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 16" EXACT [MONDO:Lexical, OMIM:612067]
synonym: "dystonia type 16" EXACT [DOID:0090048, MONDORULE:2, OMIM:612067, Orphanet:210571]
synonym: "dystonic disorder caused by mutation in PRKRA" EXACT [MONDO:design_pattern]
synonym: "DYT-PRKRA" EXACT [PMID:18243799]
synonym: "DYT16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612067, Orphanet:210571]
synonym: "early-onset dystonia parkinsonism" EXACT [Orphanet:210571]
synonym: "PRKRA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Young-onset dystonia-(parkinsonism)" RELATED [GARD:0010539]
xref: DOID:0090048 {source="MONDO:equivalentTo"}
xref: GARD:10539 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:210571", source="Orphanet:210571/attributed", source="Orphanet:210571/ntbt", source="DOID:0090048"}
xref: MEDGEN:436979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567430 {source="MONDO:equivalentTo"}
xref: NANDO:1200529 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C168729 {source="MONDO:equivalentTo"}
xref: OMIM:612067 {source="Orphanet:210571", source="MONDO:equivalentTo", source="Orphanet:210571/e", source="DOID:0090048"}
xref: Orphanet:210571 {source="OMIM:612067", source="MONDO:equivalentTo", source="DOID:0090048"}
xref: SCTID:722435003 {source="MONDO:equivalentTo"}
xref: UMLS:C2677567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436979"}
is_a: MONDO:0000478 {source="DOID:0090048"} ! multifocal dystonia
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
is_a: MONDO:0044807 {source="DOID:0090048/inferred", source="MESH:C567430", source="MONDO:Redundant", source="OMIM:612067"} ! inherited dystonia
intersection_of: MONDO:0044807 ! inherited dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9438 ! PRKRA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9438 {source="MONDO:mim2gene_medgen"} ! PRKRA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10539/dystonia-16" xsd:anyURI {source="GARD:0010539"}

[Term]
id: MONDO:0012790
name: amyotrophic lateral sclerosis type 10
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15540", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS10" EXACT ABBREVIATION [DOID:0060201, MONDO:Lexical, OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10" EXACT [DOID:0060201, OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" EXACT [DOID:0060201, OMIM:612069]
synonym: "amyotrophic lateral sclerosis 10, with or without FTD" EXACT [OMIM:612069, OMIM:genemap2]
synonym: "amyotrophic lateral sclerosis caused by mutation in TARDBP" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 10" EXACT CLINGEN_LABEL []
synonym: "frontotemporal dementia with Tdp43 inclusions, Tardbp-related" RELATED [OMIM:612069]
synonym: "frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related" RELATED [OMIM:612069]
synonym: "frontotemporal lobar degeneration, TARDBP-related" EXACT [OMIM:612069, OMIM:genemap2]
synonym: "Ftld-TDP, Tardbp-related" RELATED [OMIM:612069]
synonym: "TARDBP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions" EXACT [DOID:0060201, OMIM:612069]
xref: DOID:0060201 {source="MONDO:equivalentTo"}
xref: GARD:15540 {source="MONDO:GARD"}
xref: MEDGEN:383137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567429 {source="MONDO:equivalentTo"}
xref: OMIM:612069 {source="DOID:0060201", source="MONDO:equivalentTo"}
xref: Orphanet:275872 {source="OMIM:612069"}
xref: Orphanet:803 {source="OMIM:612069"}
xref: UMLS:C2677565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383137"}
is_a: MONDO:0005144 {source="OMIM:612069"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11571 ! TARDBP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11571 {source="MONDO:mim2gene_medgen"} ! TARDBP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10" xsd:anyURI {source="GARD:0010497"}

[Term]
id: MONDO:0012791
name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
def: "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." [Orphanet:1933]
subset: gard_rare {source="GARD:3681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1933"}
subset: orphanet_rare {source="Orphanet:1933"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "booth-Haworth-Dilling syndrome" EXACT [Orphanet:1933]
synonym: "encephalomyopathy" RELATED [GARD:0003681]
synonym: "mitochondrial DNA depletion syndrome 5" EXACT [DOID:0080124]
synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:612073]
synonym: "mitochondrial DNA depletion syndrome type 5" EXACT [DOID:0080124, MONDORULE:1]
synonym: "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive" RELATED [GARD:0003681]
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related" RELATED [OMIM:612073]
synonym: "mitochondrial encephalomyopathy aminoacidopathy" RELATED [GARD:0003681]
synonym: "mitochondrial encephalomyopathy-aminoacidopathy syndrome" EXACT [Orphanet:1933]
synonym: "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" EXACT [Orphanet:1933]
synonym: "MTDPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612073]
xref: DOID:0080124 {source="MONDO:equivalentTo"}
xref: GARD:3681 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:1933/attributed", source="Orphanet:1933/ntbt", source="Orphanet:1933"}
xref: MEDGEN:413170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567624 {source="MONDO:equivalentTo"}
xref: OMIM:612073 {source="Orphanet:1933/e", source="MONDO:equivalentTo", source="DOID:0080124", source="Orphanet:1933", source="GARD:0003681"}
xref: Orphanet:1933 {source="MONDO:equivalentTo", source="GARD:0003681", source="OMIM:612073"}
xref: Orphanet:254803 {source="OMIM:612073"}
xref: UMLS:C2749864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413170"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0016796 {source="Orphanet:1933"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form
is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:612073", source="Orphanet:1933/inferred"} ! mitochondrial DNA depletion syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11448 {source="MONDO:mim2gene_medgen"} ! SUCLA2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy" xsd:anyURI {source="GARD:0003681"}

[Term]
id: MONDO:0012792
name: mitochondrial DNA depletion syndrome 8a
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:255235"}
subset: orphanet_rare {source="Orphanet:255235"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalomyopathic type with renal tubulopathy" RELATED [GARD:0013200]
synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" RELATED [MONDO:Lexical, OMIM:612075]
synonym: "mitochondrial DNA depletion syndrome 8B (Mngie type)" RELATED [OMIM:612075]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in RRM2B" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 8a" EXACT [DOID:0080127, MONDORULE:4]
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" RELATED [Orphanet:255235]
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive" RELATED [OMIM:612075]
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related" RELATED [OMIM:612075]
synonym: "Mngie, Rrm2B-related" RELATED [OMIM:612075]
synonym: "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT [Orphanet:255235]
synonym: "MTDPS8A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612075]
synonym: "RRM2B mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RRM2B-related mitochondrial DNA depletion syndrome" RELATED [GARD:0013200]
xref: DOID:0070331 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0080127 {source="MONDO:equivalentTo"}
xref: GARD:13200 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:255235/attributed", source="Orphanet:255235/ntbt", source="Orphanet:255235"}
xref: MEDGEN:412815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612075 {source="Orphanet:255235", source="MONDO:equivalentTo", source="DOID:0080127", source="Orphanet:255235/e"}
xref: Orphanet:254803 {source="OMIM:612075"}
xref: Orphanet:255235 {source="MONDO:equivalentTo", source="OMIM:612075"}
xref: Orphanet:298 {source="MONDO:relatedTo", source="OMIM:612075"}
xref: SCTID:765100000 {source="MONDO:equivalentTo"}
xref: UMLS:C2749861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412815"}
is_a: MONDO:0016796 {source="Orphanet:255235"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form
is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:612075", source="Orphanet:255235/inferred"} ! mitochondrial DNA depletion syndrome
intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17296 ! RRM2B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17296 {source="MONDO:mim2gene_medgen"} ! RRM2B

[Term]
id: MONDO:0012793
name: hypouricemia, renal, 2
subset: gard_rare {source="GARD:15541", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gout susceptibility 2" RELATED [OMIM:612076]
synonym: "hypouricemia, renal, 2" EXACT [MONDO:Lexical, OMIM:612076]
synonym: "hypouricemia, renal, type 2" EXACT [MONDORULE:1, OMIM:612076]
synonym: "RHUC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612076]
synonym: "uric acid concentration, serum, QTL 2" EXACT [OMIM:612076, OMIM:genemap2]
synonym: "uric acid concentration, serum, quantitative trait locus 2" RELATED [OMIM:612076]
xref: GARD:15541 {source="MONDO:GARD"}
xref: MEDGEN:436974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567426 {source="MONDO:equivalentTo"}
xref: OMIM:612076 {source="MONDO:equivalentTo"}
xref: Orphanet:94088 {source="OMIM:612076"}
xref: UMLS:C2677549 {source="MEDGEN:436974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009071 {source="MONDO:Redundant", source="Orphanet:94088/btnt"} ! hereditary renal hypouricemia
is_a: MONDO:0968951 {source="OMIM:612076"} ! hypouricemia, renal
intersection_of: MONDO:0009071 ! hereditary renal hypouricemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13446 ! SLC2A9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13446 {source="MONDO:mim2gene_medgen"} ! SLC2A9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012794
name: ANE syndrome
def: "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." [Orphanet:157954]
subset: gard_rare {source="GARD:16987", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157954"}
subset: orphanet_rare {source="Orphanet:157954"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia, neurologic defects, and endocrinopathy syndrome" RELATED [MONDO:Lexical, OMIM:612079]
synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [Orphanet:157954]
synonym: "ANE syndrome" EXACT [OMIM:612079]
synonym: "anes" RELATED [MONDO:Lexical, OMIM:612079]
xref: DOID:0112244 {source="MONDO:equivalentTo"}
xref: GARD:16987 {source="MONDO:GARD"}
xref: MEDGEN:394313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567425 {source="MONDO:equivalentTo"}
xref: OMIM:612079 {source="MONDO:equivalentTo", source="Orphanet:157954", source="Orphanet:157954/e"}
xref: Orphanet:157954 {source="OMIM:612079", source="MONDO:equivalentTo"}
xref: UMLS:C2677535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394313"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:157954", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21863 {source="MONDO:mim2gene_medgen"} ! RBM28
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0012795
name: hypophosphatemic rickets and hyperparathyroidism
synonym: "hypophosphatemic rickets and hyperparathyroidism" EXACT [OMIM:612089]
xref: MEDGEN:383131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567423 {source="MONDO:equivalentTo"}
xref: OMIM:612089 {source="MONDO:equivalentTo"}
xref: UMLS:C2677524 {source="MONDO:equivalentTo", source="MEDGEN:383131", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012796
name: retinitis pigmentosa 41
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PROM1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal Degeneration, autosomal recessive, prominin-related" RELATED [OMIM:612095]
synonym: "retinitis pigmentosa 41" EXACT [MONDO:Lexical, OMIM:612095]
synonym: "retinitis pigmentosa caused by mutation in PROM1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 41" EXACT [DOID:0110376, MONDORULE:2, OMIM:612095]
synonym: "RP 41" RELATED [GARD:0010379]
synonym: "RP41" EXACT ABBREVIATION [DOID:0110376, MONDO:Lexical, OMIM:612095]
xref: DOID:0110376 {source="MONDO:equivalentTo"}
xref: GARD:10379 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110376"}
xref: MEDGEN:383126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567422 {source="MONDO:equivalentTo"}
xref: OMIM:612095 {source="MONDO:equivalentTo", source="DOID:0110376"}
xref: UMLS:C2677516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383126"}
is_a: MONDO:0019200 {source="DC-OMIM:612095", source="DOID:0110376", source="MESH:C567422", source="MONDO:Redundant", source="OMIM:612095"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 ! PROM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10379/retinitis-pigmentosa-41" xsd:anyURI {source="GARD:0010379"}

[Term]
id: MONDO:0012797
name: otosclerosis 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "otosclerosis 8" EXACT [MONDO:Lexical, OMIM:612096]
synonym: "OTSC8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612096]
xref: DOID:0060926 {source="MONDO:equivalentTo"}
xref: MEDGEN:436965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567421 {source="MONDO:equivalentTo"}
xref: OMIM:612096 {source="MONDO:equivalentTo"}
xref: Orphanet:2794 {source="OMIM:612096"}
xref: UMLS:C2677515 {source="MONDO:equivalentTo", source="MEDGEN:436965", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005349 {source="DC-OMIM:612096", source="MESH:C567421", source="OMIM:612096"} ! otosclerosis

[Term]
id: MONDO:0012798
name: deafness, unilateral, with delayed endolymphatic hydrops
synonym: "deafness, unilateral, with delayed endolymphatic hydrops" EXACT [OMIM:612097]
xref: MEDGEN:393762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567420 {source="MONDO:equivalentTo"}
xref: OMIM:612097 {source="MONDO:equivalentTo"}
xref: UMLS:C2677512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393762"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012799
name: hypertrophic cardiomyopathy 11
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 11" EXACT [DOID:0110317]
synonym: "cardiomyopathy, familial hypertrophic, 11" RELATED [MONDO:Lexical, OMIM:612098]
synonym: "cardiomyopathy, familial hypertrophic, type 11" EXACT [MONDORULE:2, OMIM:612098]
synonym: "cardiomyopathy, hypertrophic, 11" EXACT [OMIM:612098, OMIM:genemap2]
synonym: "CMH11" EXACT ABBREVIATION [DOID:0110317, MONDO:Lexical, OMIM:612098]
synonym: "hypertrophic cardiomyopathy 11" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 11" EXACT [DOID:0110317, MONDORULE:2]
xref: DOID:0110317 {source="MONDO:equivalentTo"}
xref: MEDGEN:436962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567419 {source="MONDO:equivalentTo"}
xref: OMIM:612098 {source="DOID:0110317", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:612098"}
xref: UMLS:C2677506 {source="MEDGEN:436962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:612098", source="DOID:0110317", source="MESH:C567419/inferred", source="MONDO:Redundant", source="OMIM:612098"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C567419", source="MONDO:OMIM", source="OMIM:612098"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 ! ACTC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 {source="MONDO:mim2gene_medgen"} ! ACTC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012800
name: trichoepithelioma, multiple familial, 2
subset: gard_rare {source="GARD:10373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Mft2" RELATED [OMIM:612099]
synonym: "multiple familial trichoepithelioma 2" RELATED [GARD:0010373]
synonym: "trichoepithelioma multiple familial 2" RELATED [GARD:0010373]
synonym: "trichoepithelioma, multiple familial, 2" EXACT [OMIM:612099]
synonym: "trichoepithelioma, multiple familial, type 2" EXACT [MONDORULE:1, OMIM:612099]
xref: GARD:10373 {source="MONDO:GARD"}
xref: MEDGEN:394303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567418 {source="MONDO:equivalentTo"}
xref: OMIM:612099 {source="MONDO:equivalentTo"}
xref: Orphanet:867 {source="OMIM:612099"}
xref: UMLS:C2677505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394303"}
is_a: MONDO:0011114 {source="Orphanet:867/btnt"} ! familial multiple trichoepithelioma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10373/multiple-familial-trichoepithelioma-2" xsd:anyURI {source="GARD:0010373"}

[Term]
id: MONDO:0012801
name: autism, susceptibility to, 15
subset: predisposition
synonym: "autism susceptibility 15" EXACT [OMIM:612100, OMIM:genemap2]
synonym: "autism, susceptibility to, 15" EXACT [MONDO:Lexical, OMIM:612100]
synonym: "autism, susceptibility to, type 15" EXACT [MONDORULE:2, OMIM:612100]
synonym: "AUTS15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612100]
synonym: "susceptibility to autism 15" RELATED [OMIM:612100]
xref: MEDGEN:394302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612100 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:612100"}
xref: UMLS:C2677504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394302"}
is_a: MONDO:0020836 {source="OMIM:612100"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13830 ! CNTNAP2
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13830 {source="MONDO:mim2gene_medgen"} ! CNTNAP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012802
name: oculoauricular syndrome
def: "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)." [Orphanet:157962]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16988", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157962"}
subset: ordo_malformation_syndrome {source="Orphanet:157962"}
subset: orphanet_rare {source="Orphanet:157962"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear" RELATED [OMIM:612109]
synonym: "OCACS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612109]
synonym: "oculoauricular syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612109]
synonym: "oculoauricular syndrome, Schorderet type" RELATED [Orphanet:157962]
synonym: "Schorderet-Munier-Franceschetti syndrome" RELATED [OMIM:612109]
xref: DOID:0060482 {source="MONDO:equivalentTo"}
xref: GARD:16988 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:157962/attributed", source="Orphanet:157962/ntbt", source="Orphanet:157962", source="DOID:0060482"}
xref: MEDGEN:393758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567416 {source="MONDO:equivalentTo", source="DOID:0060482"}
xref: OMIM:612109 {source="Orphanet:157962", source="MONDO:equivalentTo", source="Orphanet:157962/e", source="DOID:0060482"}
xref: Orphanet:157962 {source="MONDO:equivalentTo", source="OMIM:612109", source="DOID:0060482"}
xref: UMLS:C2677500 {source="MEDGEN:393758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016073 {source="Orphanet:157962"} ! syndromic microphthalmia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5017 {source="MONDO:mim2gene_medgen"} ! HMX1

[Term]
id: MONDO:0012803
name: diarrhea-vomiting due to trehalase deficiency
def: "This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." [Orphanet:103909]
subset: gard_rare {source="GARD:10372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:103909"}
subset: orphanet_rare {source="Orphanet:103909"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated trehalose intolerance" EXACT [Orphanet:103909]
synonym: "trehalase deficiency" RELATED [OMIM:612119]
synonym: "trehalose intolerance" RELATED [OMIM:612119]
xref: GARD:10372 {source="MONDO:GARD"}
xref: ICD10CM:E74.3 {source="Orphanet:103909", source="Orphanet:103909/attributed", source="Orphanet:103909/ntbt"}
xref: icd11.foundation:2025219157 {source="Orphanet:103909", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562603 {source="MONDO:equivalentTo"}
xref: OMIM:612119 {source="Orphanet:103909", source="MONDO:equivalentTo", source="Orphanet:103909/e"}
xref: Orphanet:103909 {source="MONDO:equivalentTo", source="OMIM:612119"}
xref: SCTID:84193000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75660"}
is_a: MONDO:0017706 {source="Orphanet:103909", source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:0004555 ! alpha,alpha-trehalase activity
intersection_of: disease_has_feature HP:0002013 ! Vomiting
intersection_of: disease_has_feature HP:0002014 ! Diarrhea
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12266 {source="MONDO:mim2gene_medgen"} ! TREH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0012804
name: hypertrophic cardiomyopathy 12
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 12" EXACT [DOID:0110318]
synonym: "cardiomyopathy, familial hypertrophic, 12" RELATED [MONDO:Lexical, OMIM:612124]
synonym: "cardiomyopathy, familial hypertrophic, type 12" EXACT [MONDORULE:2, OMIM:612124]
synonym: "cardiomyopathy, hypertrophic, 12" EXACT [OMIM:612124, OMIM:genemap2]
synonym: "CMH12" EXACT ABBREVIATION [DOID:0110318, MONDO:Lexical, OMIM:612124]
synonym: "CSRP3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypertrophic cardiomyopathy 12" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 12" EXACT [DOID:0110318, MONDORULE:2]
xref: DOID:0110318 {source="MONDO:equivalentTo"}
xref: MEDGEN:393755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612124 {source="DOID:0110318", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:612124"}
xref: UMLS:C2677491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393755"}
is_a: MONDO:0005045 {source="DC-OMIM:612124", source="DOID:0110318", source="MONDO:Redundant", source="OMIM:612124", source="OMIM:612124/inferred"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:612124"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2472 ! CSRP3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2472 {source="MONDO:mim2gene_medgen"} ! CSRP3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012805
name: childhood onset GLUT1 deficiency syndrome 2
def: "A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." [Orphanet:98811]
subset: gard_rare {source="GARD:10541", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98811"}
subset: orphanet_rare {source="Orphanet:98811"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood onset GLUT1 deficiency syndrome 2" EXACT CLINGEN_LABEL []
synonym: "childhood onset GLUT1 deficiency syndrome type 2" EXACT [DOID:0090045, MONDORULE:1]
synonym: "dystonia 18" EXACT [OMIM:612126, Orphanet:98811]
synonym: "DYT-SLC2A1" RELATED [GARD:0010541]
synonym: "DYT18" EXACT ABBREVIATION [Orphanet:98811]
synonym: "GLUT1 deficiency syndrome 2" RELATED [MONDO:Lexical, OMIM:612126]
synonym: "GLUT1 deficiency syndrome 2, childhood onset" EXACT [OMIM:612126, OMIM:genemap2]
synonym: "GLUT1 deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612126]
synonym: "GLUT1DS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612126]
synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 []
synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126]
synonym: "paroxysmal exercise-induced dystonia" EXACT [PMID:26598494]
synonym: "paroxysmal exertion-induced dyskinesia" RELATED [Orphanet:98811]
synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 []
synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126]
synonym: "ped" EXACT [Orphanet:98811]
synonym: "ped with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 []
synonym: "ped with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126]
synonym: "PxMD-SLC2A1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
xref: DOID:0090045 {source="MONDO:equivalentTo"}
xref: GARD:10541 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="Orphanet:98811/attributed", source="Orphanet:98811/ntbt", source="DOID:0090045", source="Orphanet:98811"}
xref: MEDGEN:330866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564288 {source="MONDO:equivalentTo"}
xref: NANDO:1200531 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612126 {source="DOID:0090045", source="Orphanet:98811", source="MONDO:equivalentTo", source="Orphanet:98811/e"}
xref: Orphanet:98811 {source="DOID:0090045", source="OMIM:612126", source="MONDO:equivalentTo"}
xref: SCTID:724072002 {source="MONDO:equivalentTo"}
xref: UMLS:C1842534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330866"}
is_a: MONDO:0000188 {source="DC-OMIM:612126", source="OMIM:612126"} ! GLUT1 deficiency syndrome
is_a: MONDO:0015427 {source="Orphanet:98811"} ! paroxysmal dyskinesia
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0012806
name: ectodermal dysplasia and immunodeficiency 2
subset: gard_rare {source="GARD:15542", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant" EXACT [OMIM:612132]
synonym: "EPAID2" EXACT ABBREVIATION [OMIM:612132]
xref: DOID:0081079 {source="MONDO:equivalentTo"}
xref: GARD:15542 {source="MONDO:GARD"}
xref: MEDGEN:394295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567411 {source="MONDO:equivalentTo"}
xref: NCIT:C176826 {source="MONDO:equivalentTo"}
xref: OMIM:612132 {source="MONDO:equivalentTo"}
xref: Orphanet:238468 {source="OMIM:612132"}
xref: Orphanet:98813 {source="OMIM:612132"}
xref: UMLS:C2677481 {source="MEDGEN:394295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010293 {source="Orphanet:98813/btnt"} ! ectodermal dysplasia and immune deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7797 {source="MONDO:mim2gene_medgen"} ! NFKBIA

[Term]
id: MONDO:0012807
name: epidermolysis bullosa simplex 5C, with pyloric atresia
def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." [https://orcid.org/0000-0001-5208-3432, Orphanet:158684]
subset: gard_rare {source="GARD:16991", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158684"}
subset: orphanet_rare {source="Orphanet:158684"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS with pyloric atresia" RELATED [OMIM:612138]
synonym: "EBS-PA" EXACT [Orphanet:158684]
synonym: "EBSPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612138]
synonym: "epidermolysis bullosa simplex 5C, with pyloric atresia" EXACT [OMIM:612138, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT [MONDO:Lexical, OMIM:612138]
xref: GARD:16991 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:158684", source="Orphanet:158684/attributed", source="Orphanet:158684/ntbt"}
xref: MEDGEN:436922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567408 {source="MONDO:equivalentTo"}
xref: OMIM:612138 {source="Orphanet:158684", source="MONDO:equivalentTo", source="Orphanet:158684/e"}
xref: Orphanet:158684 {source="MONDO:equivalentTo", source="OMIM:612138"}
xref: SCTID:716701004 {source="MONDO:equivalentTo"}
xref: UMLS:C2677349 {source="MEDGEN:436922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012808
name: dilated cardiomyopathy 1AA
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15543", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:612158]
synonym: "cardiomyopathy, dilated, 1AA, with or without LVNC" EXACT [OMIM:612158, OMIM:genemap2]
synonym: "cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction" RELATED [OMIM:612158]
synonym: "cardiomyopathy, hypertrophic, 23, with or without LVNC" EXACT [OMIM:612158, OMIM:genemap2]
synonym: "CMD1AA" EXACT ABBREVIATION [DOID:0110428, MONDO:Lexical, OMIM:612158]
synonym: "dilated cardiomyopathy 1AA with or without left ventricular noncompaction" EXACT [DOID:0110428]
synonym: "dilated cardiomyopathy type 1AA" EXACT [DOID:0110428, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTN2" EXACT [MONDO:design_pattern]
xref: DOID:0110428 {source="MONDO:equivalentTo"}
xref: GARD:15543 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110428"}
xref: MEDGEN:393713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567407 {source="MONDO:equivalentTo"}
xref: OMIM:612158 {source="DOID:0110428", source="MONDO:equivalentTo"}
xref: UMLS:C2677338 {source="MEDGEN:393713", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0016333 {source="PMID:25610839", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0009-0001-6494-4831"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/164 {source="MONDO:mim2gene_medgen"} ! ACTN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0012809
name: histiocytoma, Angiomatoid fibrous
def: "A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare." [NCIT:P378]
subset: gard_rare {source="GARD:22303", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:569164"}
subset: orphanet_rare {source="Orphanet:569164"}
subset: rare
synonym: "AFH" EXACT ABBREVIATION [NCIT:C6494]
synonym: "angiomatoid fibrous histiocytoma" EXACT [NCIT:C6494]
synonym: "angiomatoid malignant fibrous histiocytoma" EXACT [NCIT:C6494]
synonym: "histiocytoma, Angiomatoid fibrous" EXACT [OMIM:612160]
synonym: "histiocytoma, angiomatoid fibrous, somatic" EXACT [OMIM:612160, OMIM:genemap2]
xref: GARD:22303 {source="MONDO:GARD"}
xref: ICDO:8836/1 {source="NCIT:C6494"}
xref: MEDGEN:226845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563181 {source="MONDO:equivalentTo"}
xref: NCIT:C6494 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: OMIM:612160 {source="MONDO:equivalentTo"}
xref: ONCOTREE:AFH {source="MONDO:equivalentTo"}
xref: Orphanet:569164 {source="MONDO:equivalentTo"}
xref: UMLS:C1266127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226845"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005509 {source="MESH:C563181/inferred"} ! histiocytoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2345 {source="MONDO:mim2gene_medgen"} ! CREB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012810
name: aneurysm, intracranial berry, 7
subset: gard_rare {source="GARD:18325", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 7" RELATED [MONDO:Lexical, OMIM:612161]
synonym: "ANIB7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612161]
xref: DOID:0080970 {source="MONDO:equivalentTo"}
xref: GARD:18325 {source="MONDO:GARD"}
xref: MEDGEN:436919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567406 {source="MONDO:equivalentTo"}
xref: OMIM:612161 {source="MONDO:equivalentTo"}
xref: UMLS:C2677337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436919"}
is_a: MONDO:0016483 {source="DC-OMIM:612161", source="OMIM:612161"} ! intracranial berry aneurysm

[Term]
id: MONDO:0012811
name: aneurysm, intracranial berry, 8
subset: gard_rare {source="GARD:18326", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 8" RELATED [MONDO:Lexical, OMIM:612162]
synonym: "ANIB8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612162]
xref: DOID:0080971 {source="MONDO:equivalentTo"}
xref: GARD:18326 {source="MONDO:GARD"}
xref: MEDGEN:393712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567405 {source="MONDO:equivalentTo"}
xref: OMIM:612162 {source="MONDO:equivalentTo"}
xref: Orphanet:231160 {source="OMIM:612162"}
xref: UMLS:C2677336 {source="MEDGEN:393712", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016483 {source="DC-OMIM:612162", source="OMIM:612162"} ! intracranial berry aneurysm

[Term]
id: MONDO:0012812
name: developmental and epileptic encephalopathy, 4
def: "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition." [https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4]
subset: gard_rare {source="GARD:12900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599373"}
subset: orphanet_rare {source="Orphanet:599373"}
subset: rare
synonym: "DEE4" EXACT ABBREVIATION [OMIM:612164]
synonym: "developmental and epileptic encephalopathy 4" EXACT [OMIM:612164, OMIM:genemap2]
synonym: "developmental and epileptic encephalopathy, 4" EXACT CLINGEN_LABEL []
synonym: "early infantile epileptic encephalopathy 4" EXACT [GARD:0012900]
synonym: "early infantile epileptic encephalopathy caused by mutation in STXBP1" EXACT [MONDO:design_pattern]
synonym: "EIEE4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612164]
synonym: "epileptic encephalopathy, early infantile, 4" EXACT [MONDO:Lexical, OMIM:612164]
synonym: "epileptic encephalopathy, early infantile, type 4" EXACT [MONDORULE:1, OMIM:612164]
synonym: "STXBP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STXBP1-related early-onset encephalopathy" RELATED [GARD:0012900]
synonym: "STXBP1-related encephalopathy" EXACT [Orphanet:599373]
xref: DOID:0080436 {source="MONDO:equivalentTo"}
xref: GARD:12900 {source="MONDO:GARD"}
xref: MEDGEN:436917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567404 {source="MONDO:equivalentTo"}
xref: NCIT:C162472 {source="MONDO:equivalentTo"}
xref: OMIM:612164 {source="MONDO:equivalentTo"}
xref: Orphanet:33069 {source="MONDO:relatedTo", source="OMIM:612164"}
xref: Orphanet:599373 {source="MONDO:equivalentTo"}
xref: SCTID:768666006 {source="MONDO:equivalentTo"}
xref: UMLS:C2677326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436917"}
is_a: MONDO:0100062 {source="MONDO:Redundant", source="OMIM:612164"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11444 ! STXBP1
relationship: excluded_subClassOf MONDO:0100135 {source="Orphanet:33069/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Dravet syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11444 {source="MONDO:mim2gene_medgen"} ! STXBP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4" xsd:anyURI {source="GARD:0012900"}

[Term]
id: MONDO:0012813
name: retinitis pigmentosa 29
def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34." [DOID:0110378, PMID:11381043]
subset: gard_rare {source="GARD:10378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 29" EXACT [MONDO:Lexical, OMIM:612165]
synonym: "retinitis pigmentosa type 29" EXACT [DOID:0110378, MONDORULE:2]
synonym: "RP 29" RELATED [GARD:0010378]
synonym: "RP29" EXACT ABBREVIATION [DOID:0110378, MONDO:Lexical, OMIM:612165]
xref: DOID:0110378 {source="MONDO:equivalentTo"}
xref: GARD:10378 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110378"}
xref: MEDGEN:393710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567403 {source="MONDO:equivalentTo"}
xref: OMIM:612165 {source="MONDO:equivalentTo", source="DOID:0110378"}
xref: Orphanet:791 {source="OMIM:612165"}
xref: UMLS:C2677325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393710"}
is_a: MONDO:0019200 {source="DC-OMIM:612165", source="DOID:0110378", source="MESH:C567403", source="OMIM:612165"} ! retinitis pigmentosa
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10378/retinitis-pigmentosa-29" xsd:anyURI {source="GARD:0010378"}

[Term]
id: MONDO:0012814
name: diastasis recti and weakness of the linea alba
synonym: "diastasis recti and weakness of the linea alba" EXACT [OMIM:612198]
xref: MEDGEN:394255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567402 {source="MONDO:equivalentTo"}
xref: OMIM:612198 {source="MONDO:equivalentTo"}
xref: UMLS:C2677303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394255"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012815
name: Coats plus syndrome
def: "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." [Orphanet:313838]
subset: gard_rare {source="GARD:17412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313838"}
subset: orphanet_rare {source="Orphanet:313838"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebroretinal microangiopathy with calcfications and cysts" EXACT [OMIMPS:612199]
synonym: "cerebroretinal microangiopathy with calcifications and cysts" EXACT [MONDO:Lexical, OMIM:612199, Orphanet:313838]
synonym: "CRMCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612199, Orphanet:313838]
xref: GARD:17412 {source="MONDO:GARD"}
xref: ICD10CM:H35.0 {source="Orphanet:313838/attributed", source="Orphanet:313838/ntbt", source="Orphanet:313838"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:383079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567401 {source="MONDO:equivalentTo"}
xref: OMIMPS:612199 {source="MONDO:equivalentTo"}
xref: Orphanet:313838 {source="OMIM:612199", source="MONDO:equivalentTo"}
xref: SCTID:711482008 {source="MONDO:equivalentTo"}
xref: UMLS:C2677299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383079"}
is_a: MONDO:0020247 {source="Orphanet:313838"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:612199"} ! inherited

[Term]
id: MONDO:0012816
name: atrial fibrillation, familial, 6
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15544", source="MONDO:GARD"}
subset: rare
synonym: "ATFB6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612201]
synonym: "atrial fibrillation, familial, 6" EXACT [MONDO:Lexical, OMIM:612201]
synonym: "atrial fibrillation, familial, type 6" EXACT [MONDORULE:1, OMIM:612201]
synonym: "familial atrial fibrillation caused by mutation in NPPA" EXACT [MONDO:design_pattern]
synonym: "NPPA familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15544 {source="MONDO:GARD"}
xref: MEDGEN:394252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567400 {source="MONDO:equivalentTo"}
xref: OMIM:612201 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:612201"}
xref: UMLS:C2677294 {source="MONDO:equivalentTo", source="MEDGEN:394252", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:612201", source="MONDO:Redundant", source="OMIM:612201"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7939 ! NPPA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7939 {source="MONDO:mim2gene_medgen"} ! NPPA

[Term]
id: MONDO:0012817
name: Ewing sarcoma
def: "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C4817]
subset: gard_rare {source="GARD:6390", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:319"}
subset: orphanet_rare {source="Orphanet:319"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ES" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4817, OMIM:612219]
synonym: "Ewing sarcoma" EXACT [MONDO:Lexical, NCIT:C4817, OMIM:612219]
synonym: "Ewing tumor" RELATED [GARD:0006390]
synonym: "Ewing tumour" RELATED OMO:0003005 []
synonym: "Ewing's family localised tumour" EXACT OMO:0003005 []
synonym: "Ewing's family localized tumor" EXACT [DOID:3369]
synonym: "Ewing's sarcoma" EXACT [NCIT:C4817]
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:3369]
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "Ewing's tumor" EXACT [NCIT:C4817]
synonym: "Ewing's tumour" EXACT OMO:0003005 []
synonym: "Ewings sarcoma" EXACT [DOID:3369]
synonym: "Ewings sarcoma-primitive neuroectodermal tumor" RELATED [DOID:3369]
synonym: "Ewings sarcoma-primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "localised Ewing sarcoma" RELATED OMO:0003005 []
synonym: "localised Ewing's sarcoma" RELATED OMO:0003005 []
synonym: "localised Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "localised Ewing's tumour" RELATED OMO:0003005 []
synonym: "localised peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "localized Ewing sarcoma" RELATED [DOID:3369]
synonym: "localized Ewing's sarcoma" RELATED [DOID:3369]
synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED [DOID:3369]
synonym: "localized Ewing's tumor" RELATED [DOID:3369]
synonym: "localized peripheral primitive neuroectodermal tumor" RELATED [DOID:3369]
synonym: "neuroepithelioma" RELATED [OMIM:612219, OMIM:genemap2]
synonym: "neuroepithelioma, peripheral" RELATED [OMIM:612219]
synonym: "peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:3369]
synonym: "peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "PNET of Thoracopulmonary region" EXACT [DOID:3369]
synonym: "sarcoma, Ewing's" RELATED [GARD:0006390]
xref: DOID:0050608 {source="EFO:0000174", source="MONDO:relatedTo"}
xref: DOID:3369 {source="MONDO:equivalentTo"}
xref: EFO:0000174 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6390 {source="MONDO:GARD"}
xref: ICD10CM:C40.0 {source="Orphanet:319", source="Orphanet:319/ntbt"}
xref: ICD10CM:C40.1 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"}
xref: ICD10CM:C40.2 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"}
xref: ICD10CM:C40.3 {source="MONDO:relatedTo", source="Orphanet:319", source="Orphanet:319/ntbt"}
xref: ICD10CM:C41.2 {source="Orphanet:319", source="Orphanet:319/ntbt"}
xref: ICD10CM:C41.3 {source="Orphanet:319", source="Orphanet:319/ntbt"}
xref: ICD10CM:C41.4 {source="Orphanet:319", source="Orphanet:319/ntbt"}
xref: ICDO:9260/3 {source="NCIT:C4817"}
xref: MedDRA:10015560 {source="Orphanet:319", source="Orphanet:319/e"}
xref: MEDGEN:107816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563168 {source="DOID:3369"}
xref: MESH:D012512 {source="EFO:0000174", source="MONDO:equivalentTo", source="DOID:3369"}
xref: MESH:D018241 {source="DOID:3369"}
xref: NANDO:2200053 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27901 {source="DOID:3369"}
xref: NCIT:C27903 {source="DOID:3369"}
xref: NCIT:C4817 {source="EFO:0000174", source="MONDO:equivalentTo", source="DOID:3369"}
xref: NCIT:C7542 {source="MONDO:relatedTo", source="DOID:3369"}
xref: NCIT:C7806 {source="DOID:3369"}
xref: NCIT:C9341 {source="DOID:3369", source="MONDO:directSiblingOf"}
xref: OMIM:612219 {source="EFO:0000174", source="MONDO:equivalentTo", source="Orphanet:319", source="DOID:3369", source="Orphanet:319/e"}
xref: ONCOTREE:ES {source="MONDO:equivalentTo"}
xref: Orphanet:2677 {source="MONDO:relatedTo", source="OMIM:612219"}
xref: Orphanet:319 {source="MONDO:equivalentTo", source="OMIM:612219"}
xref: SCTID:128783001 {source="DOID:3369"}
xref: SCTID:134210007 {source="DOID:3369"}
xref: SCTID:253096008 {source="DOID:3369"}
xref: SCTID:703707001 {source="DOID:3369"}
xref: SCTID:73506006 {source="DOID:3369"}
xref: SCTID:73676002 {source="DOID:3369"}
xref: SCTID:76909002 {source="EFO:0000174", source="DOID:3369"}
xref: UMLS:C0553580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107816"}
is_a: MONDO:0005089 {source="EFO:0000174", source="MESH:D012512/inferred", source="NCIT:C4817"} ! sarcoma
is_a: MONDO:0021038 {source="NCIT:C4817"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3508 {source="MONDO:mim2gene_medgen"} ! EWSR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012818
name: maturity-onset diabetes of the young type 9
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diabetes mellitus MODY type 9" RELATED [GARD:0010663]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PAX4" EXACT []
synonym: "maturity-onset diabetes of the young, type 9" RELATED [MONDO:Lexical, OMIM:612225]
synonym: "maturity-onset diabetes of the young, type IX" EXACT [OMIM:612225, OMIM:genemap2]
synonym: "MODY PAX4 related" RELATED [GARD:0010663]
synonym: "MODY type 9" RELATED [GARD:0010663]
synonym: "MODY9" EXACT ABBREVIATION [DOID:0111107, MONDO:Lexical, OMIM:612225]
synonym: "PAX4 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "type 9 maturity-onset diabetes of the young" RELATED [GARD:0010663]
xref: DOID:0111107 {source="MONDO:equivalentTo"}
xref: GARD:10663 {source="MONDO:GARD"}
xref: MEDGEN:383033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567393 {source="MONDO:equivalentTo"}
xref: OMIM:612225 {source="DOID:0111107", source="MONDO:equivalentTo"}
xref: Orphanet:552 {source="GARD:0010663"}
xref: SCTID:609576002 {source="MONDO:equivalentTo"}
xref: UMLS:C2677132 {source="MEDGEN:383033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018911 {source="DC-OMIM:612225", source="DOID:0111107", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8618 ! PAX4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8618 {source="MONDO:mim2gene_medgen"} ! PAX4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10663/maturity-onset-diabetes-of-the-young-type-9" xsd:anyURI {source="GARD:0010663"}

[Term]
id: MONDO:0012819
name: diabetic ketoacidosis
def: "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "ketosis-prone diabetes mellitus" EXACT [DOID:1837]
synonym: "KPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612227]
xref: DOID:1837 {source="MONDO:equivalentTo", source="EFO:1000897"}
xref: EFO:1000897 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:250.1 {source="DOID:1837"}
xref: ICD9:250.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10012671 {source="EFO:1000897"}
xref: MEDGEN:8351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016883 {source="MONDO:equivalentTo", source="EFO:1000897", source="DOID:1837"}
xref: NCIT:C50530 {source="MONDO:otherHierarchy", source="EFO:1000897", source="DOID:1837"}
xref: SCTID:154671004 {source="DOID:1837"}
xref: SCTID:190328004 {source="DOID:1837"}
xref: SCTID:24927004 {source="DOID:1837"}
xref: SCTID:267467004 {source="DOID:1837"}
xref: SCTID:420422005 {source="MONDO:equivalentTo", source="EFO:1000897", source="DOID:1837"}
xref: UMLS:C0011880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8351"}
is_a: MONDO:0005015 {source="https://orcid.org/0000-0003-0978-0309"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005148 {source="DOID:1837", source="https://orcid.org/0000-0001-5208-3432"} ! type 2 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4859" xsd:anyURI

[Term]
id: MONDO:0012820
name: colorectal cancer, susceptibility to, 3
def: "Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal cancer caused by mutation in SMAD7" EXACT [MONDO:design_pattern]
synonym: "colorectal cancer, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612229]
synonym: "colorectal cancer, susceptibility to, on chromosome 18" RELATED [OMIM:612229]
synonym: "colorectal cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612229]
synonym: "CRCS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612229]
synonym: "SMAD7 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to colorectal cancer 3" RELATED [OMIM:612229]
xref: MEDGEN:436866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612229 {source="MONDO:equivalentTo"}
xref: UMLS:C2677123 {source="MONDO:equivalentTo", source="MEDGEN:436866", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6773 ! SMAD7
intersection_of: predisposes_towards MONDO:0005575 ! colorectal cancer
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6773 {source="MONDO:mim2gene_medgen"} ! SMAD7

[Term]
id: MONDO:0012821
name: colorectal cancer, susceptibility to, 5
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal cancer, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612230]
synonym: "colorectal cancer, susceptibility to, on chromosome 10" RELATED [OMIM:612230]
synonym: "CRCS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612230]
xref: MEDGEN:393664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612230 {source="MONDO:equivalentTo"}
xref: UMLS:C2677122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393664"}
is_a: MONDO:0020573 {source="DC-OMIM:612230", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005575 {source="DC-OMIM:612230", source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
relationship: predisposes_towards MONDO:0005575 {source="DC-OMIM:612230"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012822
name: colorectal cancer, susceptibility to, 6
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal cancer, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:612231]
synonym: "colorectal cancer, susceptibility to, on chromosome 8Q23" RELATED [OMIM:612231]
synonym: "CRCS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612231]
xref: MEDGEN:436865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612231 {source="MONDO:equivalentTo"}
xref: UMLS:C2677121 {source="MEDGEN:436865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="DC-OMIM:612231", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005575 {source="DC-OMIM:612231", source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
relationship: predisposes_towards MONDO:0005575 {source="DC-OMIM:612231"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012823
name: colorectal cancer, susceptibility to, 7
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal cancer, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612232]
synonym: "colorectal cancer, susceptibility to, on chromosome 11" RELATED [OMIM:612232]
synonym: "CRCS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612232]
xref: MEDGEN:394209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612232 {source="MONDO:equivalentTo"}
xref: UMLS:C2677120 {source="MEDGEN:394209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="DC-OMIM:612232", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005575 {source="DC-OMIM:612232", source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
relationship: predisposes_towards MONDO:0005575 {source="DC-OMIM:612232"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012824
name: hypomyelinating leukodystrophy 4
def: "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17294", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280288"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLD4" EXACT ABBREVIATION [DOID:0060789, MONDO:Lexical, OMIM:612233]
synonym: "HSPD1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypomyelinating leukodystrophy type 4" EXACT [DOID:0060789, MONDORULE:1]
synonym: "leukodystrophy caused by mutation in HSPD1" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 4" RELATED [MONDO:Lexical, OMIM:612233]
synonym: "leukodystrophy, hypomyelinating, type 4" EXACT [MONDORULE:1, OMIM:612233]
synonym: "MitCHAP60 disease" EXACT [DOID:0060789]
synonym: "Mitchap60 disease" RELATED [OMIM:612233]
synonym: "mitochondrial HSP60 chaperonopathy" EXACT [DOID:0060789, Orphanet:280288]
synonym: "mitochondrial Hsp60 chaperonopathy" RELATED [OMIM:612233]
synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [DOID:0060789]
xref: DOID:0060789 {source="MONDO:equivalentTo"}
xref: GARD:17294 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="DOID:0060789", source="Orphanet:280288/attributed", source="Orphanet:280288/ntbt", source="Orphanet:280288"}
xref: MEDGEN:383026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567390 {source="MONDO:equivalentTo"}
xref: NANDO:1200581 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201293 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612233 {source="Orphanet:280288/e", source="MONDO:equivalentTo", source="DOID:0060789", source="Orphanet:280288"}
xref: Orphanet:280270 {source="OMIM:612233"}
xref: Orphanet:280288 {source="OMIM:612233", source="MONDO:equivalentTo", source="DOID:0060789"}
xref: UMLS:C2677109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383026"}
is_a: MONDO:0017226 {source="Orphanet:280288"} ! Pelizaeus-Merzbacher-like disease
is_a: MONDO:0019046 {source="DOID:0060789", source="DOID:0060789/inferred", source="MONDO:Redundant", source="OMIM:612233", source="Orphanet:280288/inferred"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5261 ! HSPD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5261 {source="MONDO:mim2gene_medgen"} ! HSPD1

[Term]
id: MONDO:0012825
name: extraskeletal myxoid chondrosarcoma
def: "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." [NCIT:P378]
subset: gard_rare {source="GARD:17105", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209916"}
subset: orphanet_rare {source="Orphanet:209916"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrosarcoma, extraskeletal myxoid" RELATED [OMIM:612237]
synonym: "EMC" RELATED ABBREVIATION [OMIM:612237]
synonym: "extraosseous chondrosarcoma" EXACT [NCIT:C27502]
synonym: "extraskeletal chondrosarcoma" EXACT [NCIT:C27502]
synonym: "myxoid extraosseous chondrosarcoma" EXACT [DOID:6496, NCIT:C27502]
synonym: "myxoid extraskeletal chondrosarcoma" EXACT [NCIT:C27502]
xref: DOID:6496 {source="MONDO:equivalentObsolete"}
xref: GARD:17105 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:209916/ntbt", source="Orphanet:209916"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563195 {source="MONDO:equivalentTo", source="DOID:6496"}
xref: NCIT:C27502 {source="MONDO:equivalentTo", source="DOID:6496"}
xref: OMIM:612237 {source="Orphanet:209916", source="MONDO:equivalentTo", source="Orphanet:209916/e", source="DOID:6496"}
xref: ONCOTREE:EMCHS {source="MONDO:equivalentTo"}
xref: Orphanet:209916 {source="MONDO:equivalentTo", source="OMIM:612237"}
xref: SCTID:404079008 {source="MONDO:equivalentTo", source="DOID:6496"}
xref: UMLS:C1275278 {source="MONDO:equivalentTo", source="MEDGEN:220892", source="MONDO:MEDGEN"}
is_a: MONDO:0018078 {source="NCIT:C27502", source="Orphanet:209916"} ! soft tissue sarcoma

[Term]
id: MONDO:0012826
name: scoliosis, isolated, susceptibility to, 4
subset: predisposition
synonym: "IS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612238]
synonym: "scoliosis, idiopathic, susceptibility to, 4" EXACT [OMIM:612238, OMIM:genemap2]
synonym: "scoliosis, isolated, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:612238]
xref: MEDGEN:393659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612238 {source="MONDO:equivalentTo"}
xref: UMLS:C2677108 {source="MEDGEN:393659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012827
name: scoliosis, isolated, susceptibility to, 5
subset: predisposition
synonym: "IS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612239]
synonym: "scoliosis, idiopathic, susceptibility to, 5" EXACT [OMIM:612239, OMIM:genemap2]
synonym: "scoliosis, isolated, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612239]
xref: MEDGEN:436862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612239 {source="MONDO:equivalentTo"}
xref: UMLS:C2677107 {source="MEDGEN:436862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000726 ! idiopathic scoliosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012828
name: atrial fibrillation, familial, 7
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15545", source="MONDO:GARD"}
subset: rare
synonym: "ATFB7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612240]
synonym: "atrial fibrillation, familial, 7" EXACT [MONDO:Lexical, OMIM:612240]
synonym: "atrial fibrillation, familial, type 7" EXACT [MONDORULE:1, OMIM:612240]
synonym: "familial atrial fibrillation caused by mutation in KCNA5" EXACT [MONDO:design_pattern]
synonym: "KCNA5 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15545 {source="MONDO:GARD"}
xref: MEDGEN:393658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567389 {source="MONDO:equivalentTo"}
xref: OMIM:612240 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:612240"}
xref: UMLS:C2677106 {source="MEDGEN:393658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:612240", source="MONDO:Redundant", source="OMIM:612240"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6224 ! KCNA5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6224 {source="MONDO:mim2gene_medgen"} ! KCNA5

[Term]
id: MONDO:0012829
name: inflammatory bowel disease 12
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3" [DOID:0110887, PMID:17804789]
synonym: "IBD12" EXACT ABBREVIATION [DOID:0110887, MONDO:Lexical, OMIM:612241]
synonym: "inflammatory bowel disease 12" EXACT [MONDO:Lexical, OMIM:612241]
synonym: "inflammatory bowel disease type 12" EXACT [DOID:0110887, MONDORULE:2]
xref: DOID:0110887 {source="MONDO:equivalentTo"}
xref: MEDGEN:436861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567388 {source="MONDO:equivalentTo"}
xref: OMIM:612241 {source="DOID:0110887", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:612241"}
xref: Orphanet:771 {source="OMIM:612241"}
xref: UMLS:C2677105 {source="MEDGEN:436861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DC-OMIM:612241", source="DOID:0110887", source="MESH:C567388", source="OMIM:612241"} ! inflammatory bowel disease

[Term]
id: MONDO:0012830
name: chromosome 10q23 deletion syndrome
def: "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive." [Orphanet:276413]
subset: gard_rare {source="GARD:17280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276413"}
subset: ordo_malformation_syndrome {source="Orphanet:276413"}
subset: orphanet_rare {source="Orphanet:276413"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "10q22.3q23 microdeletion syndrome" RELATED [GARD:0013018]
synonym: "10q22.3q23.3 microdeletion syndrome" RELATED [Orphanet:276413]
synonym: "chromosome 10Q22.3-q23.2 deletion syndrome" RELATED [OMIM:612242]
synonym: "chromosome 10q22.3-q23.2 deletion syndrome" RELATED [OMIM:612242]
synonym: "chromosome 10q23 deletion syndrome" EXACT [OMIM:612242]
synonym: "Del(10)(q22.3q23.3)" EXACT [Orphanet:276413]
synonym: "deletion 10q22.3q23.3" EXACT [Orphanet:276413]
synonym: "juvenile polyposis of infancy" RELATED [OMIM:612242]
synonym: "juvenile polyposis, infantile" RELATED [OMIM:612242]
synonym: "monosomy 10q22.3q23.3" EXACT [GARD:0013018, Orphanet:276413]
xref: DOID:0060389 {source="MONDO:equivalentTo"}
xref: GARD:17280 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:276413", source="Orphanet:276413/attributed", source="Orphanet:276413/ntbt"}
xref: MEDGEN:906099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567385 {source="DOID:0060389", source="MONDO:equivalentTo"}
xref: OMIM:612242 {source="DOID:0060389", source="MONDO:equivalentTo", source="Orphanet:276413", source="Orphanet:276413/e"}
xref: Orphanet:276413 {source="MONDO:equivalentTo"}
xref: Orphanet:2929 {source="OMIM:612242", source="MONDO:relatedTo"}
xref: Orphanet:79076 {source="OMIM:612242", source="MONDO:relatedTo"}
xref: UMLS:C4225669 {source="MONDO:equivalentTo", source="MEDGEN:906099", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:612242", source="DOID:0060389"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016909 {source="Orphanet:276413"} ! partial monosomy of the long arm of chromosome 10
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr10q23 ! 10q23 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0012831
name: inflammatory bowel disease 13
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ABCB1 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IBD13" EXACT ABBREVIATION [DOID:0110893, MONDO:Lexical, OMIM:612244]
synonym: "inflammatory bowel disease 13" EXACT [MONDO:Lexical, OMIM:612244]
synonym: "inflammatory bowel disease caused by mutation in ABCB1" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 13" EXACT [DOID:0110893, MONDORULE:2, OMIM:612244]
xref: DOID:0110893 {source="MONDO:equivalentTo"}
xref: MEDGEN:394202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567384 {source="MONDO:equivalentTo"}
xref: OMIM:612244 {source="MONDO:equivalentTo", source="DOID:0110893"}
xref: Orphanet:206 {source="OMIM:612244"}
xref: Orphanet:771 {source="OMIM:612244"}
xref: UMLS:C2677101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394202"}
is_a: MONDO:0005265 {source="DC-OMIM:612244", source="DOID:0110893", source="MESH:C567384", source="MONDO:Redundant", source="OMIM:612244"} ! inflammatory bowel disease
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/40 ! ABCB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/40 {source="MONDO:mim2gene_medgen"} ! ABCB1

[Term]
id: MONDO:0012832
name: inflammatory bowel disease 14
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IBD14" EXACT ABBREVIATION [DOID:0110895, MONDO:Lexical, OMIM:612245]
synonym: "inflammatory bowel disease 14" EXACT [MONDO:Lexical, OMIM:612245]
synonym: "inflammatory bowel disease caused by mutation in IRF5" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 14" EXACT [DOID:0110895, MONDORULE:2, OMIM:612245]
synonym: "IRF5 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110895 {source="MONDO:equivalentTo"}
xref: MEDGEN:436860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567383 {source="MONDO:equivalentTo"}
xref: OMIM:612245 {source="MONDO:equivalentTo", source="DOID:0110895"}
xref: Orphanet:206 {source="OMIM:612245"}
xref: Orphanet:771 {source="OMIM:612245"}
xref: UMLS:C2677100 {source="MEDGEN:436860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DC-OMIM:612245", source="DOID:0110895", source="MESH:C567383", source="MONDO:Redundant", source="OMIM:612245"} ! inflammatory bowel disease
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6120 ! IRF5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6120 {source="MONDO:mim2gene_medgen"} ! IRF5

[Term]
id: MONDO:0012833
name: Crouzon syndrome-acanthosis nigricans syndrome
def: "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." [Orphanet:93262]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93262"}
subset: ordo_malformation_syndrome {source="Orphanet:93262"}
subset: orphanet_rare {source="Orphanet:93262"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAN" EXACT ABBREVIATION [DOID:0111161, MONDO:Lexical, OMIM:612247]
synonym: "can" RELATED [OMIM:612247]
synonym: "chronic allograft nephropathy" EXACT [NCIT:C38145]
synonym: "Chronic kidney allograft nephropathy" EXACT [NCIT:C38145]
synonym: "Crouzon syndrome with acanthosis nigricans" RELATED [MONDO:Lexical, OMIM:612247]
synonym: "Crouzon-dermoskeletal syndrome" EXACT [DOID:0111161, Orphanet:93262]
synonym: "Crouzonodermoskeletal syndrome" EXACT [DOID:0111161, OMIM:612247]
xref: DOID:0111161 {source="MONDO:equivalentTo"}
xref: GARD:16810 {source="MONDO:GARD"}
xref: ICD10CM:Q75.1 {source="Orphanet:93262", source="Orphanet:93262/attributed", source="Orphanet:93262/ntbt"}
xref: MEDGEN:394201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567382 {source="MONDO:equivalentTo"}
xref: NCIT:C38145 {source="MONDO:equivalentTo"}
xref: OMIM:612247 {source="Orphanet:93262", source="MONDO:equivalentTo", source="DOID:0111161", source="Orphanet:93262/e"}
xref: Orphanet:93262 {source="OMIM:612247", source="MONDO:equivalentTo", source="DOID:0111161"}
xref: SCTID:702361006 {source="MONDO:equivalentTo"}
xref: UMLS:C2677099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394201"}
is_a: MONDO:0000426 {source="DOID:0111161", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005381 {source="DOID:0111161", source="MESH:C567382/inferred", source="Orphanet:93262/inferred"} ! bone disorder
is_a: MONDO:0015338 {source="Orphanet:93262", source="PMID:31633310"} ! syndromic craniosynostosis
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0005363 {source="NCIT:C38145", source="https://orcid.org/0000-0001-5208-3432"} ! inherited focal segmental glomerulosclerosis
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:612247", source="Orphanet:93262"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012834
name: systemic lupus erythematosus, susceptibility to, 10
def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "IRF5 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "SLEB10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612251]
synonym: "susceptibility to systemic lupus erythematosus 10" RELATED [OMIM:612251]
synonym: "systemic lupus erythematosus (disease) caused by mutation in IRF5" EXACT []
synonym: "systemic lupus erythematosus, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:612251]
synonym: "systemic lupus erythematosus, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:612251]
xref: MEDGEN:436859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612251 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:612251"}
xref: UMLS:C2677097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436859"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6120 ! IRF5
intersection_of: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6120 {source="MONDO:mim2gene_medgen"} ! IRF5
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0012835
name: systemic lupus erythematosus, susceptibility to, 11
def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "SLEB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612253]
synonym: "STAT4 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to systemic lupus erythematosus 11" RELATED [OMIM:612253]
synonym: "systemic lupus erythematosus (disease) caused by mutation in STAT4" EXACT []
synonym: "systemic lupus erythematosus, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:612253]
synonym: "systemic lupus erythematosus, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:612253]
xref: MEDGEN:393656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612253 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:612253"}
xref: UMLS:C2677096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393656"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11365 ! STAT4
intersection_of: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11365 {source="MONDO:mim2gene_medgen"} ! STAT4

[Term]
id: MONDO:0012836
name: systemic lupus erythematosus, susceptibility to, 12
subset: predisposition
synonym: "SLEB12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612254]
synonym: "systemic lupus erythematosus, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:612254]
xref: MEDGEN:436858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612254 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:612254"}
xref: UMLS:C2677095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436858"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0012837
name: inflammatory bowel disease 15
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21." [DOID:0110897, PMID:18438406]
synonym: "IBD15" EXACT ABBREVIATION [DOID:0110897, MONDO:Lexical, OMIM:612255]
synonym: "inflammatory bowel disease 15" EXACT [MONDO:Lexical, OMIM:612255]
synonym: "inflammatory bowel disease type 15" EXACT [DOID:0110897, MONDORULE:2]
xref: DOID:0110897 {source="MONDO:equivalentTo"}
xref: MEDGEN:383025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567381 {source="MONDO:equivalentTo"}
xref: OMIM:612255 {source="DOID:0110897", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:612255"}
xref: Orphanet:771 {source="OMIM:612255"}
xref: UMLS:C2677094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383025"}
is_a: MONDO:0005265 {source="DC-OMIM:612255", source="DOID:0110897", source="MESH:C567381", source="OMIM:612255"} ! inflammatory bowel disease

[Term]
id: MONDO:0012838
name: inflammatory bowel disease 16
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32." [DOID:0110896, PMID:18587394]
synonym: "IBD16" EXACT ABBREVIATION [DOID:0110896, MONDO:Lexical, OMIM:612259]
synonym: "inflammatory bowel disease 16" EXACT [MONDO:Lexical, OMIM:612259]
synonym: "inflammatory bowel disease type 16" EXACT [DOID:0110896, MONDORULE:2]
xref: DOID:0110896 {source="MONDO:equivalentTo"}
xref: MEDGEN:383024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567380 {source="MONDO:equivalentTo"}
xref: OMIM:612259 {source="DOID:0110896", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:612259"}
xref: Orphanet:771 {source="OMIM:612259"}
xref: UMLS:C2677093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383024"}
is_a: MONDO:0005265 {source="DC-OMIM:612259", source="DOID:0110896", source="MESH:C567380", source="OMIM:612259"} ! inflammatory bowel disease

[Term]
id: MONDO:0012839
name: pyogenic bacterial infections due to MyD88 deficiency
def: "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." [Orphanet:183713]
subset: gard_rare {source="GARD:12638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:183713"}
subset: orphanet_rare {source="Orphanet:183713"}
subset: rare
synonym: "immunodeficiency 68" EXACT [OMIM:612260, OMIM:genemap2]
synonym: "MyD88 deficiency" EXACT [MONDO:Lexical, OMIM:612260, Orphanet:183713]
synonym: "MYD88D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612260]
synonym: "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" EXACT [OMIM:612260]
synonym: "recurrent pyogenic bacterial infections due to MyD88 deficiency" EXACT [OMIM:612260]
xref: GARD:12638 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:183713/attributed", source="Orphanet:183713/ntbt", source="Orphanet:183713"}
xref: MEDGEN:383023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567379 {source="MONDO:equivalentTo"}
xref: NANDO:1200362 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200763 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612260 {source="Orphanet:183713/e", source="MONDO:equivalentTo", source="Orphanet:183713"}
xref: Orphanet:183713 {source="MONDO:equivalentTo", source="OMIM:612260"}
xref: UMLS:C2677092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383023"}
is_a: MONDO:0021094 {source="OMIM:612260", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7562 {source="MONDO:mim2gene_medgen"} ! MYD88
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012840
name: inflammatory bowel disease 17
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IBD17" EXACT ABBREVIATION [DOID:0110883, MONDO:Lexical, OMIM:612261]
synonym: "IL23R inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory bowel disease 17" EXACT [MONDO:Lexical, OMIM:612261]
synonym: "inflammatory bowel disease 17, protection against" EXACT [OMIM:612261, OMIM:genemap2]
synonym: "inflammatory bowel disease caused by mutation in IL23R" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 17" EXACT [DOID:0110883, MONDORULE:2, OMIM:612261]
xref: DOID:0110883 {source="MONDO:equivalentTo"}
xref: MEDGEN:436857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567378 {source="MONDO:equivalentTo"}
xref: OMIM:612261 {source="MONDO:equivalentTo", source="DOID:0110883"}
xref: Orphanet:206 {source="OMIM:612261"}
xref: Orphanet:771 {source="OMIM:612261"}
xref: UMLS:C2677091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436857"}
is_a: MONDO:0005265 {source="DC-OMIM:612261", source="DOID:0110883", source="MESH:C567378", source="MONDO:Redundant", source="OMIM:612261"} ! inflammatory bowel disease
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19100 ! IL23R
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19100 {source="MONDO:mim2gene_medgen"} ! IL23R
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012841
name: inflammatory bowel disease 18
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1." [DOID:0110888, PMID:17447842]
synonym: "IBD18" EXACT ABBREVIATION [DOID:0110888, MONDO:Lexical, OMIM:612262]
synonym: "inflammatory bowel disease 18" EXACT [MONDO:Lexical, OMIM:612262]
synonym: "inflammatory bowel disease type 18" EXACT [DOID:0110888, MONDORULE:2]
xref: DOID:0110888 {source="MONDO:equivalentTo"}
xref: MEDGEN:393655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567377 {source="MONDO:equivalentTo"}
xref: OMIM:612262 {source="DOID:0110888", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:612262"}
xref: Orphanet:771 {source="OMIM:612262"}
xref: UMLS:C2677090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393655"}
is_a: MONDO:0005265 {source="DC-OMIM:612262", source="DOID:0110888", source="MESH:C567377", source="OMIM:612262"} ! inflammatory bowel disease

[Term]
id: MONDO:0012842
name: melanoma, cutaneous malignant, susceptibility to, 7
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "CMM7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612263]
synonym: "melanoma, cutaneous malignant, 7" EXACT [OMIM:612263, OMIM:genemap2]
synonym: "melanoma, cutaneous malignant, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612263]
xref: MEDGEN:394200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612263 {source="MONDO:equivalentTo"}
xref: UMLS:C2677089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394200"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0018961 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:612263", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012843
name: epilepsy, childhood absence, susceptibility to, 5
def: "Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "childhood absence epilepsy caused by mutation in GABRB3" EXACT [MONDO:design_pattern]
synonym: "ECA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612269]
synonym: "epilepsy, childhood absence, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612269]
synonym: "epilepsy, childhood absence, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612269]
synonym: "GABRB3 childhood absence epilepsy" RELATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to childhood absence epilepsy 5" EXACT [OMIM:612269]
xref: MEDGEN:393654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612269 {source="MONDO:equivalentTo"}
xref: Orphanet:64280 {source="OMIM:612269"}
xref: UMLS:C2677087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393654"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4083 ! GABRB3
intersection_of: predisposes_towards MONDO:0010826 ! childhood absence epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4083 {source="MONDO:mim2gene_medgen"} ! GABRB3

[Term]
id: MONDO:0012844
name: primary ciliary dyskinesia 8
def: "A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25." [DOID:0110616, PMID:18270537]
subset: gard_rare {source="GARD:15546", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD8" EXACT ABBREVIATION [DOID:0110616, MONDO:Lexical, OMIM:612274]
synonym: "ciliary dyskinesia, primary, 8" RELATED [MONDO:Lexical, OMIM:612274]
synonym: "ciliary dyskinesia, primary, 8, with or without situs inversus" RELATED [OMIM:612274]
synonym: "primary ciliary dyskinesia 8 with or without situs inversus" EXACT [DOID:0110616]
synonym: "primary ciliary dyskinesia type 8" EXACT [DOID:0110616, MONDORULE:1]
xref: DOID:0110616 {source="MONDO:equivalentTo"}
xref: GARD:15546 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110616"}
xref: MEDGEN:393653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567373 {source="MONDO:equivalentTo"}
xref: OMIM:612274 {source="MONDO:equivalentTo", source="DOID:0110616"}
xref: Orphanet:244 {source="OMIM:612274"}
xref: UMLS:C2677085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393653"}
is_a: MONDO:0016575 {source="DC-OMIM:612274", source="DOID:0110616", source="MESH:C567373", source="MESH:C567373/inferred", source="OMIM:612274"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0012845
name: inflammatory bowel disease 19
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "IBD19" EXACT ABBREVIATION [DOID:0110890, MONDO:Lexical, OMIM:612278]
synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT [DOID:0110890]
synonym: "inflammatory bowel disease 19" EXACT [MONDO:Lexical, OMIM:612278]
synonym: "inflammatory bowel disease caused by mutation in IRGM" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 19" EXACT [DOID:0110890, MONDORULE:2, OMIM:612278]
synonym: "IRGM inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110890 {source="MONDO:equivalentTo"}
xref: MEDGEN:393652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567372 {source="MONDO:equivalentTo"}
xref: OMIM:612278 {source="MONDO:equivalentTo", source="DOID:0110890"}
xref: Orphanet:206 {source="OMIM:612278"}
xref: Orphanet:771 {source="OMIM:612278"}
xref: UMLS:C2677079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393652"}
is_a: MONDO:0005265 {source="DC-OMIM:612278", source="DOID:0110890", source="MESH:C567372", source="MONDO:Redundant", source="OMIM:612278"} ! inflammatory bowel disease
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29597 ! IRGM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29597 {source="MONDO:mim2gene_medgen"} ! IRGM

[Term]
id: MONDO:0012846
name: generalized epilepsy with febrile seizures plus, type 6
subset: gard_rare {source="GARD:18663", source="MONDO:GARD"}
subset: rare
synonym: "Gefs+, type 6" RELATED [OMIM:612279]
synonym: "GEFSP6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612279]
synonym: "generalized epilepsy with febrile seizures plus, type 6" EXACT [MONDO:Lexical, OMIM:612279]
xref: DOID:0111300 {source="MONDO:equivalentTo"}
xref: GARD:18663 {source="MONDO:GARD"}
xref: MEDGEN:394198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567371 {source="MONDO:equivalentTo"}
xref: OMIM:612279 {source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="OMIM:612279"}
xref: UMLS:C2677078 {source="MEDGEN:394198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018214 {source="DC-OMIM:612279", source="OMIM:612279"} ! generalized epilepsy with febrile seizures plus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29597 {source="MONDO:mim2gene_medgen"} ! IRGM

[Term]
id: MONDO:0012847
name: autosomal recessive congenital ichthyosis 6
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15547", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI6" EXACT ABBREVIATION [DOID:0060715, MONDO:Lexical, OMIM:612281]
synonym: "autosomal recessive congenital ichthyosis type 6" EXACT [DOID:0060715, MONDORULE:1]
synonym: "ichthyosis, congenital, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:612281]
synonym: "ichthyosis, congenital, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:612281]
synonym: "ichthyosis, congenital, autosomal recessive, Nipal4-related" RELATED [OMIM:612281]
xref: DOID:0060715 {source="MONDO:equivalentTo"}
xref: GARD:15547 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060715"}
xref: MEDGEN:436851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612281 {source="MONDO:equivalentTo", source="DOID:0060715"}
xref: Orphanet:313 {source="OMIM:612281"}
xref: Orphanet:79394 {source="OMIM:612281"}
xref: UMLS:C2677065 {source="MEDGEN:436851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:612281"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis
is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28018 ! NIPAL4
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612281"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28018 {source="MONDO:mim2gene_medgen"} ! NIPAL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012848
name: Meckel syndrome, type 6
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15548", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CC2D2A Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meckel syndrome 6" RELATED [DOID:0070120]
synonym: "Meckel syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 6" EXACT [MONDO:Lexical, OMIM:612284]
synonym: "Meckel-Gruber syndrome, type 6" EXACT [DOID:0070120]
synonym: "MKS6" EXACT ABBREVIATION [DOID:0070120, MONDO:Lexical, OMIM:612284]
xref: DOID:0070120 {source="MONDO:equivalentTo"}
xref: GARD:15548 {source="MONDO:GARD"}
xref: ICD10CM:Q61.9 {source="DOID:0070120"}
xref: MEDGEN:382942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567365 {source="MONDO:equivalentTo"}
xref: OMIM:612284 {source="DOID:0070120", source="MONDO:equivalentTo"}
xref: Orphanet:564 {source="OMIM:612284"}
xref: UMLS:C2676790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382942"}
is_a: MONDO:0018921 {source="DC-OMIM:612284", source="DOID:0070120", source="MONDO:Redundant", source="OMIM:612284"} ! Meckel syndrome
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 ! CC2D2A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 {source="MONDO:mim2gene_medgen"} ! CC2D2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012849
name: Joubert syndrome 9
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15549", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CC2D2A Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS9" EXACT ABBREVIATION [DOID:0111004, MONDO:Lexical, OMIM:612285]
synonym: "Joubert syndrome 9" EXACT [MONDO:Lexical, OMIM:612285]
synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:612285]
synonym: "Joubert syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 9" EXACT [DOID:0111004, MONDORULE:1, OMIM:612285]
xref: DOID:0111004 {source="MONDO:equivalentTo"}
xref: GARD:15549 {source="MONDO:GARD"}
xref: MEDGEN:382940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567364 {source="MONDO:equivalentTo"}
xref: NCIT:C181002 {source="MONDO:equivalentTo"}
xref: OMIM:612285 {source="MONDO:equivalentTo", source="DOID:0111004"}
xref: Orphanet:2318 {source="OMIM:612285"}
xref: UMLS:C2676788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382940"}
is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0018772 {source="DC-OMIM:612285", source="DOID:0111004", source="MONDO:Redundant", source="OMIM:612285"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 ! CC2D2A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 {source="MONDO:mim2gene_medgen"} ! CC2D2A

[Term]
id: MONDO:0012850
name: hypophosphatemic nephrolithiasis/osteoporosis 1
subset: gard_rare {source="GARD:18346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 1" EXACT [DOID:0080077, MONDORULE:1]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 1" RELATED [MONDO:Lexical, OMIM:612286]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 1" EXACT [MONDORULE:1, OMIM:612286]
synonym: "NPHLOP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612286]
xref: DOID:0080077 {source="MONDO:equivalentTo"}
xref: GARD:18346 {source="MONDO:GARD"}
xref: MEDGEN:436776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567363 {source="MONDO:equivalentTo"}
xref: OMIM:612286 {source="DOID:0080077", source="MONDO:equivalentTo"}
xref: Orphanet:244305 {source="OMIM:612286"}
xref: UMLS:C2676786 {source="MEDGEN:436776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000079 {source="DC-OMIM:612286", source="MONDO:Redundant", source="OMIM:612286"} ! nephrolithiasis/osteoporosis, hypophosphatemic
is_a: MONDO:0001343 {source="DOID:0080077"} ! impaired renal function disease
intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 ! SLC34A1
relationship: disease_has_feature HP:0002905 {source="MONDO:Wikidata"} ! Hyperphosphatemia
relationship: disease_has_feature MONDO:0000328 {source="MONDO:Wikidata"} ! hyperphosphatemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 {source="MONDO:mim2gene_medgen"} ! SLC34A1

[Term]
id: MONDO:0012851
name: hypophosphatemic nephrolithiasis/osteoporosis 2
subset: gard_rare {source="GARD:18347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 2" EXACT [DOID:0080078, MONDORULE:1]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 2" RELATED [MONDO:Lexical, OMIM:612287]
synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 2" EXACT [MONDORULE:1, OMIM:612287]
synonym: "NPHLOP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612287]
xref: DOID:0080078 {source="MONDO:equivalentTo"}
xref: GARD:18347 {source="MONDO:GARD"}
xref: MEDGEN:394127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567362 {source="MONDO:equivalentTo"}
xref: OMIM:612287 {source="DOID:0080078", source="MONDO:equivalentTo"}
xref: Orphanet:244305 {source="OMIM:612287"}
xref: UMLS:C2676782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394127"}
is_a: MONDO:0000079 {source="DC-OMIM:612287", source="MONDO:Redundant", source="OMIM:612287"} ! nephrolithiasis/osteoporosis, hypophosphatemic
is_a: MONDO:0001343 {source="DOID:0080078"} ! impaired renal function disease
intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11075 ! NHERF1
relationship: disease_has_feature HP:0002905 {source="MONDO:Wikidata"} ! Hyperphosphatemia
relationship: disease_has_feature MONDO:0000328 {source="MONDO:Wikidata"} ! hyperphosphatemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11075 {source="MONDO:mim2gene_medgen"} ! NHERF1

[Term]
id: MONDO:0012852
name: inflammatory bowel disease 20
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24." [DOID:0110898, PMID:10053016]
synonym: "IBD20" EXACT ABBREVIATION [DOID:0110898, MONDO:Lexical, OMIM:612288]
synonym: "inflammatory bowel disease 20" EXACT [MONDO:Lexical, OMIM:612288]
synonym: "inflammatory bowel disease type 20" EXACT [DOID:0110898, MONDORULE:2]
xref: DOID:0110898 {source="MONDO:equivalentTo"}
xref: MEDGEN:394126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567361 {source="MONDO:equivalentTo"}
xref: OMIM:612288 {source="DOID:0110898", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:612288"}
xref: Orphanet:771 {source="OMIM:612288"}
xref: UMLS:C2676781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394126"}
is_a: MONDO:0005265 {source="DC-OMIM:612288", source="DOID:0110898", source="MESH:C567361", source="OMIM:612288"} ! inflammatory bowel disease

[Term]
id: MONDO:0012853
name: Fontaine progeroid syndrome
def: "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." [Orphanet:2963]
subset: gard_rare {source="GARD:4497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1201"}
subset: ordo_disorder {source="Orphanet:2963", source="Orphanet:2095"}
subset: ordo_malformation_syndrome {source="Orphanet:2963", source="Orphanet:2095"}
subset: orphanet_rare {source="Orphanet:2963", source="Orphanet:2095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora" EXACT [OMIM:233500]
synonym: "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence" EXACT [OMIM:612289]
synonym: "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies" RELATED [GARD:0000066]
synonym: "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" EXACT [Orphanet:2095]
synonym: "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" EXACT [Orphanet:2095]
synonym: "dental and eye anomalies, patent ductus arteriosus, and normal intelligence" EXACT [OMIM:233500]
synonym: "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" EXACT [Orphanet:2095]
synonym: "Fontaine progeroid syndrome" EXACT [OMIM:612289, Orphanet:2963]
synonym: "FPS" EXACT ABBREVIATION [OMIM:612289]
synonym: "GCM syndrome" EXACT [Orphanet:2095]
synonym: "GCMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:233500]
synonym: "Gorlin Chaudhry Moss syndrome" EXACT [GARD:0000066]
synonym: "Gorlin-Chaudhry-Moss Syndrome" EXACT [NORD:1201]
synonym: "Gorlin-Chaudhry-Moss syndrome" EXACT [MONDO:0009304, MONDO:Lexical, OMIM:233500]
synonym: "Petty Laxova Wiedemann syndrome" RELATED [GARD:0004497]
synonym: "Petty syndrome" EXACT [Orphanet:2963]
synonym: "Petty-Laxova-Wiedemann syndrome" EXACT [Orphanet:2963]
synonym: "progeroid syndrome congenital Petty type" EXACT [GARD:0004497]
synonym: "progeroid syndrome Petty type" EXACT [GARD:0004497]
synonym: "progeroid syndrome, congenital, Petty type" NARROW [OMIM:612289]
synonym: "progeroid syndrome, Petty type" EXACT [GARD:0004497]
xref: GARD:4497 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:2963", source="MONDO:mondoSubClassOfSource", source="Orphanet:2963/attributed", source="Orphanet:2963/ntbt"}
xref: ICD10CM:Q87.0 {source="Orphanet:2095/ntbt", source="Orphanet:2095", source="Orphanet:2095/index"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:394125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537290 {source="Orphanet:2095/e", source="MONDO:equivalentTo", source="Orphanet:2095"}
xref: NORD:1201 {source="MONDO:NORD"}
xref: OMIM:233500 {source="Orphanet:2095/e", source="MONDO:equivalentObsolete", source="Orphanet:2095"}
xref: OMIM:612289 {source="MONDO:equivalentTo", source="Orphanet:2963", source="MONDO:preferredExternal", source="Orphanet:2963/e"}
xref: Orphanet:2095 {source="MONDO:equivalentTo", source="OMIM:233500"}
xref: Orphanet:2963 {source="OMIM:612289", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:205800003 {source="MONDO:equivalentTo"}
xref: UMLS:C2676780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394125"}
is_a: MONDO:0015161 {source="Orphanet:2095"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019287 {source="Orphanet:2095"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0015333 {source="DC-OMIM:612289", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:2963", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type" xsd:anyURI {source="GARD:0004497"}

[Term]
id: MONDO:0012854
name: bilateral microtia-deafness-cleft palate syndrome
def: "This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate." [Orphanet:140963]
subset: gard_rare {source="GARD:16966", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:140963"}
subset: ordo_malformation_syndrome {source="Orphanet:140963"}
subset: orphanet_rare {source="Orphanet:140963"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microtia with or without hearing impairment" RELATED [OMIM:612290]
synonym: "microtia with or without hearing impairment (AD)" EXACT [OMIM:612290, OMIM:genemap2]
synonym: "microtia, hearing impairment, and cleft palate" RELATED [OMIM:612290]
synonym: "microtia, hearing impairment, and cleft palate (AR)" EXACT [OMIM:612290, OMIM:genemap2]
xref: GARD:16966 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:140963", source="Orphanet:140963/attributed", source="Orphanet:140963/ntbt"}
xref: MEDGEN:382936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567359 {source="MONDO:equivalentTo"}
xref: OMIM:612290 {source="Orphanet:140963/e", source="MONDO:equivalentTo", source="Orphanet:140963"}
xref: Orphanet:140963 {source="MONDO:equivalentTo", source="OMIM:612290"}
xref: UMLS:C2676772 {source="MEDGEN:382936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5103 {source="MONDO:mim2gene_medgen"} ! HOXA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012855
name: Joubert syndrome 8
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARL13B Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS8" EXACT ABBREVIATION [DOID:0111003, MONDO:Lexical, OMIM:612291]
synonym: "Joubert syndrome 8" EXACT [MONDO:Lexical, OMIM:612291]
synonym: "Joubert syndrome caused by mutation in ARL13B" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 8" EXACT [DOID:0111003, MONDORULE:1, OMIM:612291]
xref: DOID:0111003 {source="MONDO:equivalentTo"}
xref: GARD:15550 {source="MONDO:GARD"}
xref: MEDGEN:436772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567358 {source="MONDO:equivalentTo"}
xref: OMIM:612291 {source="MONDO:equivalentTo", source="DOID:0111003"}
xref: Orphanet:475 {source="OMIM:612291"}
xref: UMLS:C2676771 {source="MEDGEN:436772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DC-OMIM:612291", source="DOID:0111003", source="MONDO:Redundant", source="OMIM:612291"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25419 ! ARL13B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25419 {source="MONDO:mim2gene_medgen"} ! ARL13B

[Term]
id: MONDO:0012856
name: Birk-Barel syndrome
def: "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)." [https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome]
subset: gard_rare {source="GARD:10358", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1896"}
subset: ordo_disorder {source="Orphanet:166108"}
subset: orphanet_rare {source="Orphanet:166108"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Birk Barel intellectual disability dysmorphism syndrome" RELATED [GARD:0010358]
synonym: "Birk Barel mental retardation dysmorphism syndrome" RELATED DEPRECATED [GARD:0010358]
synonym: "BIRK-Barel intellectual disability dysmorphism syndrome" EXACT [DOID:0050675, OMIM:612292]
synonym: "BIRK-Barel mental retardation dysmorphism syndrome" EXACT DEPRECATED [DOID:0050675, OMIM:612292]
synonym: "Birk-Barel syndrome" EXACT CLINGEN_LABEL [OMIM:612292]
synonym: "intellectual disability with hypotonia and Facial Dysmorphism" RELATED [OMIM:612292]
synonym: "intellectual disability, Birk-Barel type" RELATED [Orphanet:166108]
synonym: "intellectual disability-hypotonia-facial dysmorphism syndrome" EXACT [Orphanet:166108]
synonym: "KCNK9 Imprinting Syndrome" EXACT [NORD:1896]
synonym: "mental retardation with hypotonia and Facial Dysmorphism" RELATED DEPRECATED [OMIM:612292]
xref: DOID:0050675 {source="MONDO:equivalentTo"}
xref: GARD:10358 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:166108/attributed", source="Orphanet:166108/ntbt", source="Orphanet:166108"}
xref: MEDGEN:393583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567357 {source="MONDO:equivalentTo"}
xref: NORD:1896 {source="MONDO:NORD"}
xref: OMIM:612292 {source="Orphanet:166108/e", source="DOID:0050675", source="MONDO:equivalentTo", source="Orphanet:166108"}
xref: Orphanet:166108 {source="MONDO:equivalentTo", source="OMIM:612292"}
xref: SCTID:764861005 {source="MONDO:equivalentTo"}
xref: UMLS:C2676770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393583"}
is_a: MONDO:0000426 {source="DOID:0050675", source="MONDO:Redundant"} ! autosomal dominant disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:166108", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:612292"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6283 {source="MONDO:mim2gene_medgen"} ! KCNK9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome" xsd:anyURI {source="GARD:0010358"}

[Term]
id: MONDO:0012857
name: porokeratosis 5, disseminated superficial actinic type
subset: gard_rare {source="GARD:15551", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POROK5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612293]
synonym: "porokeratosis 5, disseminated superficial actinic" EXACT [OMIM:612293, OMIM:genemap2]
synonym: "porokeratosis 5, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:612293]
synonym: "porokeratosis, disseminated superficial actinic, 3" RELATED [OMIM:612293]
xref: GARD:15551 {source="MONDO:GARD"}
xref: MEDGEN:382935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567356 {source="MONDO:equivalentTo"}
xref: OMIM:612293 {source="MONDO:equivalentTo"}
xref: Orphanet:79152 {source="OMIM:612293"}
xref: UMLS:C2676769 {source="MEDGEN:382935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:612293"} ! porokeratosis
is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012858
name: primary CD59 deficiency
subset: gard_rare {source="GARD:17054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169464"}
subset: orphanet_rare {source="Orphanet:169464"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD59 deficiency" RELATED [OMIM:612300]
synonym: "HACD59" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612300]
synonym: "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" RELATED [MONDO:Lexical, OMIM:612300]
synonym: "primary CD59 deficiency" EXACT CLINGEN_LABEL []
xref: GARD:17054 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:169464", source="Orphanet:169464/attributed", source="Orphanet:169464/ntbt"}
xref: MEDGEN:393582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567355 {source="MONDO:equivalentTo"}
xref: NANDO:2200804 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612300 {source="Orphanet:169464", source="MONDO:equivalentTo", source="Orphanet:169464/e"}
xref: Orphanet:169464 {source="OMIM:612300", source="MONDO:equivalentTo"}
xref: UMLS:C2676767 {source="MEDGEN:393582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 ! hemolytic anemia
is_a: MONDO:0003689 ! familial hemolytic anemia
is_a: MONDO:0020127 {source="Orphanet:169464"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1689 {source="MONDO:mim2gene_medgen"} ! CD59

[Term]
id: MONDO:0012859
name: autosomal recessive osteopetrosis 7
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10106", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178389"}
subset: orphanet_rare {source="Orphanet:178389"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [DOID:0110946, Orphanet:178389]
synonym: "autosomal recessive osteopetrosis type 7" EXACT [DOID:0110946, MONDORULE:1, Orphanet:178389]
synonym: "OPTB7" EXACT ABBREVIATION [DOID:0110946, MONDO:Lexical, OMIM:612301]
synonym: "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [DOID:0110946]
synonym: "osteopetrosis (disease) caused by mutation in TNFRSF11A" EXACT []
synonym: "osteopetrosis autosomal recessive 7" RELATED [GARD:0010106]
synonym: "osteopetrosis osteoclast-poor with hypogammaglobulinemia" RELATED [GARD:0010106]
synonym: "osteopetrosis, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:612301]
synonym: "osteopetrosis, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:612301]
synonym: "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia" RELATED [OMIM:612301]
synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [DOID:0110946]
synonym: "TNFRSF11A osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110946 {source="MONDO:equivalentTo"}
xref: GARD:10106 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:178389/attributed", source="Orphanet:178389/ntbt", source="Orphanet:178389", source="DOID:0110946"}
xref: MEDGEN:436770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567354 {source="MONDO:equivalentTo"}
xref: OMIM:612301 {source="Orphanet:178389", source="MONDO:equivalentTo", source="DOID:0110946", source="Orphanet:178389/e"}
xref: Orphanet:178389 {source="OMIM:612301", source="MONDO:equivalentTo", source="DOID:0110946"}
xref: UMLS:C2676766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436770"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0017198 {source="DC-OMIM:612301", source="DOID:0110946", source="MONDO:Redundant", source="OMIM:612301", source="Orphanet:178389", source="PMID:31633310"} ! osteopetrosis
intersection_of: MONDO:0017198 ! osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11908 ! TNFRSF11A
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11908 {source="MONDO:mim2gene_medgen"} ! TNFRSF11A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-autosomal-recessive-7" xsd:anyURI {source="GARD:0010106"}

[Term]
id: MONDO:0012860
name: thrombophilia due to protein C deficiency, autosomal recessive
subset: gard_rare {source="GARD:13041", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive hereditary thrombophilia due to protein C deficiency" RELATED [GARD:0013041]
synonym: "autosomal recessive protein C deficiency" RELATED [GARD:0013041]
synonym: "hereditary thrombophilia due to congenital protein C deficiency" RELATED [GARD:0013041]
synonym: "hereditary thrombophilia due to PC deficiency" RELATED [GARD:0013041]
synonym: "Proc deficiency, autosomal recessive" RELATED [OMIM:612304]
synonym: "Protein C deficiency, autosomal recessive" RELATED [OMIM:612304]
synonym: "THPH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612304]
synonym: "thrombophilia 3 due to protein C deficiency, autosomal recessive" EXACT [OMIM:612304, OMIM:genemap2]
synonym: "thrombophilia due to PROTEIN C deficiency, autosomal recessive" RELATED [OMIM:612304]
synonym: "thrombophilia due to protein C deficiency, autosomal recessive" EXACT CLINGEN_LABEL [GARD:0013041, MONDO:Lexical, OMIM:612304]
xref: DOID:0111904 {source="MONDO:equivalentTo"}
xref: GARD:13041 {source="MONDO:GARD"}
xref: MEDGEN:394120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567353 {source="MONDO:equivalentTo"}
xref: OMIM:612304 {source="MONDO:equivalentTo", source="GARD:0013041"}
xref: Orphanet:745 {source="OMIM:612304", source="GARD:0013041"}
xref: UMLS:C2676759 {source="MONDO:equivalentTo", source="MEDGEN:394120", source="MONDO:MEDGEN"}
is_a: MONDO:0019145 {source="MESH:C567353", source="OMIM:612304", source="OMIM:612304/inferred", source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency
is_a: MONDO:0100240 {source="MESH:C567353/inferred", source="MONDO:Redundant", source="OMIM:612304", source="OMIM:612304/inferred"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9451 {source="MONDO:mim2gene_medgen"} ! PROC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012861
name: premature ovarian failure 6
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FIGLA primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pof6" RELATED [MONDO:Lexical, OMIM:612310]
synonym: "premature ovarian failure 6" EXACT [MONDO:Lexical, OMIM:612310]
synonym: "premature ovarian failure type 6" EXACT [MONDORULE:1, OMIM:612310]
synonym: "primary ovarian failure caused by mutation in FIGLA" EXACT [MONDO:design_pattern]
xref: DOID:0080863 {source="MONDO:equivalentTo"}
xref: MEDGEN:394115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567351 {source="MONDO:equivalentTo"}
xref: OMIM:612310 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:612310"}
xref: UMLS:C2676742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394115"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:612310", source="MESH:C567351", source="OMIM:612310"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24669 ! FIGLA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24669 {source="MONDO:mim2gene_medgen"} ! FIGLA

[Term]
id: MONDO:0012862
name: attention deficit-hyperactivity disorder, susceptibility to, 5
subset: predisposition
synonym: "ADHD5" EXACT ABBREVIATION [OMIM:612311]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 5" EXACT [OMIM:612311]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612311]
synonym: "motor timing quantitative trait locus" RELATED [OMIM:612311]
xref: MEDGEN:394114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612311 {source="MONDO:equivalentTo"}
xref: UMLS:C2676741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394114"}
is_a: MONDO:0020573 {source="OMIM:612311", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0007743 {source="OMIM:612311", source="https://orcid.org/0000-0001-5208-3432"} ! attention deficit-hyperactivity disorder
relationship: predisposes_towards MONDO:0007743 {source="OMIM:612311"} ! attention deficit-hyperactivity disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012863
name: attention deficit-hyperactivity disorder, susceptibility to, 6
subset: predisposition
synonym: "ADHD6" EXACT ABBREVIATION [OMIM:612312]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 6" EXACT [OMIM:612312]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612312]
synonym: "digit span quantitative trait locus" RELATED [OMIM:612312]
xref: MEDGEN:393577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612312 {source="MONDO:equivalentTo"}
xref: UMLS:C2676740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393577"}
is_a: MONDO:0020573 {source="OMIM:612312", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0007743 {source="OMIM:612312", source="https://orcid.org/0000-0001-5208-3432"} ! attention deficit-hyperactivity disorder
relationship: predisposes_towards MONDO:0007743 {source="OMIM:612312"} ! attention deficit-hyperactivity disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012864
name: chromosome 2q32-q33 deletion syndrome
def: "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." [Orphanet:251019]
subset: gard_rare {source="GARD:13206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251019"}
subset: ordo_malformation_syndrome {source="Orphanet:251019"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:576283"}
subset: orphanet_rare {source="Orphanet:251019"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2q32-q33 microdeletion syndrome" EXACT [DOID:0060428, Orphanet:251019]
synonym: "2q32q33 microdeletion syndrome" EXACT [DOID:0060428]
synonym: "2q32q33 microdeletion syndromes" RELATED [GARD:0013206]
synonym: "chromosome 2q32-q33 deletion syndrome" EXACT [OMIM:612313]
synonym: "Del(2)(q32)" EXACT [Orphanet:251019]
synonym: "Del(2)(q32q33)" EXACT [Orphanet:251019]
synonym: "glass" RELATED [MONDO:Lexical, OMIM:612313]
synonym: "glass syndrome" EXACT [DOID:0060428, MONDO:Lexical, OMIM:612313]
synonym: "monosomy 2q32" EXACT [DOID:0060428, Orphanet:251019]
synonym: "monosomy 2q32-q33" EXACT [DOID:0060428, GARD:0013206, Orphanet:251019]
synonym: "monosomy 2q32q33" EXACT [DOID:0060428, Orphanet:251019]
synonym: "SAS" RELATED ABBREVIATION [GARD:0013206]
synonym: "SATB2 syndrome" RELATED [GARD:0013206]
synonym: "SATB2-associated syndrome" RELATED [GARD:0013206]
xref: DOID:0060428 {source="MONDO:equivalentTo"}
xref: GARD:13206 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:251019/attributed", source="Orphanet:251019/ntbt", source="DOID:0060428", source="Orphanet:251019"}
xref: MEDGEN:436765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567350 {source="MONDO:equivalentTo"}
xref: OMIM:612313 {source="Orphanet:251019/e", source="MONDO:equivalentTo", source="DOID:0060428", source="Orphanet:251019"}
xref: Orphanet:251019 {source="OMIM:612313", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0060428"}
xref: Orphanet:576283 {source="MONDO:equivalentTo"}
xref: SCTID:719659003 {source="MONDO:equivalentTo"}
xref: UMLS:C2676739 {source="MEDGEN:436765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:612313", source="DOID:0060428"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016901 {source="Orphanet:251019"} ! partial deletion of the long arm of chromosome 2
is_a: MONDO:0100147 {source="https://clinicalgenome.org/affiliation/40006/"} ! SATB2 associated disorder
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2q32-q33 ! 2q32-q33 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21637 {source="MONDO:mim2gene_medgen"} ! SATB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0012865
name: Pseudofolliculitis barbae
synonym: "ingrown hairs" RELATED [OMIM:612318]
synonym: "PFB" RELATED ABBREVIATION [OMIM:612318]
synonym: "pili Incarnati" RELATED [OMIM:612318]
synonym: "Pseudofolliculitis barbae" EXACT [OMIM:612318]
synonym: "pseudofolliculitis barbae, susceptibility to" RELATED [OMIM:612318, OMIM:genemap2]
xref: ICD10CM:L73.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:107807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563016 {source="MONDO:equivalentTo"}
xref: OMIM:612318 {source="MONDO:equivalentTo"}
xref: UMLS:C0549150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107807"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24431 {source="MONDO:mim2gene_medgen"} ! KRT75
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012866
name: hereditary spastic paraplegia 35
def: "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging." [Orphanet:171629]
subset: gard_rare {source="GARD:10538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171629"}
subset: orphanet_rare {source="Orphanet:171629"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 35" EXACT [DOID:0110786]
synonym: "autosomal recessive spastic paraplegia type 35" EXACT [DOID:0110786]
synonym: "FA2H hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FAHN" RELATED EXCLUDE [DOID:0110786]
synonym: "fatty acid hydroxylase-associated neurodegeneration" RELATED EXCLUDE [DOID:0110786]
synonym: "hereditary spastic paraplegia 35" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia caused by mutation in FA2H" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 35" EXACT [DOID:0110786, MONDORULE:2]
synonym: "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia" EXACT [DOID:0110786]
synonym: "leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia" RELATED [OMIM:612319]
synonym: "spastic paraplegia 35, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612319]
synonym: "SPG35" EXACT ABBREVIATION [DOID:0110786, MONDO:Lexical, OMIM:612319, Orphanet:171629]
xref: DOID:0110786 {source="MONDO:equivalentTo"}
xref: GARD:10538 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:171629/attributed", source="Orphanet:171629/ntbt", source="DOID:0110786", source="Orphanet:171629"}
xref: MEDGEN:501249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567311 {source="MONDO:equivalentTo"}
xref: NANDO:1200541 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612319 {source="DOID:0110786", source="Orphanet:171629", source="MONDO:equivalentTo", source="Orphanet:171629/e"}
xref: Orphanet:171629 {source="DOID:0110786", source="MONDO:equivalentTo", source="OMIM:612319"}
xref: SCTID:764688002 {source="MONDO:equivalentTo"}
xref: UMLS:C3496228 {source="MONDO:equivalentTo", source="MEDGEN:501249", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110786", source="MESH:C567311", source="MONDO:Redundant", source="OMIM:612319", source="Orphanet:171629/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21197 ! FA2H
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21197 {source="MONDO:mim2gene_medgen"} ! FA2H

[Term]
id: MONDO:0012867
name: hereditary spastic paraplegia 38
def: "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15." [DOID:0110789, PMID:18401025]
subset: gard_rare {source="GARD:17065", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171617"}
subset: orphanet_rare {source="Orphanet:171617"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 38" EXACT [DOID:0110789]
synonym: "autosomal dominant spastic paraplegia type 38" EXACT [DOID:0110789]
synonym: "hereditary spastic paraplegia type 38" EXACT [DOID:0110789, MONDORULE:2]
synonym: "spastic paraplegia 38, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612335]
synonym: "SPG38" EXACT ABBREVIATION [DOID:0110789, MONDO:Lexical, OMIM:612335, Orphanet:171617]
xref: DOID:0110789 {source="MONDO:equivalentTo"}
xref: GARD:17065 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110789", source="Orphanet:171617", source="Orphanet:171617/attributed", source="Orphanet:171617/ntbt"}
xref: MEDGEN:436764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567349 {source="MONDO:equivalentTo"}
xref: OMIM:612335 {source="DOID:0110789", source="Orphanet:171617", source="MONDO:equivalentTo", source="Orphanet:171617/e"}
xref: Orphanet:171617 {source="DOID:0110789", source="OMIM:612335", source="MONDO:equivalentTo"}
xref: UMLS:C2676732 {source="MEDGEN:436764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015087 {source="Orphanet:171617"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110789", source="MESH:C567349", source="MONDO:Redundant", source="OMIM:612335", source="Orphanet:171617/inferred"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0012868
name: thrombophilia due to protein S deficiency, autosomal dominant
def: "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." [MONDO:design_pattern]
comment: Note that ORDO appears to classify as hereditary and acquired.
subset: gard_rare {source="GARD:18568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:26349"}
subset: orphanet_rare {source="Orphanet:26349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency" EXACT [MONDO:design_pattern]
synonym: "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
synonym: "protein S acquired deficiency" RELATED [Orphanet:26349]
synonym: "THPH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612336]
synonym: "thrombophilia 5 due to protein S deficiency, autosomal dominant" EXACT [OMIM:612336, OMIM:genemap2]
synonym: "thrombophilia due to protein S deficiency, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612336]
xref: DOID:0111900 {source="MONDO:equivalentTo"}
xref: GARD:18568 {source="MONDO:GARD"}
xref: ICD10CM:D68.8 {source="Orphanet:26349", source="Orphanet:26349/ntbt"}
xref: MedDRA:10068370 {source="Orphanet:26349", source="Orphanet:26349/e"}
xref: MEDGEN:479841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567077 {source="MONDO:equivalentTo"}
xref: OMIM:612336 {source="MONDO:equivalentTo"}
xref: Orphanet:26349 {source="MONDO:equivalentTo", source="OMIM:612336"}
xref: Orphanet:743 {source="OMIM:612336"}
xref: UMLS:C3278211 {source="MEDGEN:479841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019144 {source="MONDO:Redundant", source="Orphanet:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency
is_a: MONDO:0100240 {source="MESH:C567077/inferred", source="MONDO:Redundant", source="OMIM:612336", source="OMIM:612336/inferred"} ! inherited thrombophilia
intersection_of: MONDO:0019144 ! hereditary thrombophilia due to congenital protein S deficiency
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: excluded_subClassOf MONDO:0016634 {source="Orphanet:26349", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete thrombotic disorder due to an acquired coagulation factors defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9456 {source="MONDO:mim2gene_medgen"} ! PROS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012869
name: intellectual disability, autosomal dominant 22
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 22" EXACT [DOID:0070052]
synonym: "autosomal dominant mental retardation 22" EXACT DEPRECATED [DOID:0070052]
synonym: "autosomal dominant non-syndromic intellectual disability 22" RELATED [DOID:0070052]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18" EXACT [MONDO:design_pattern]
synonym: "chromosome 1Q43-q44 deletion syndrome" RELATED [OMIM:612337]
synonym: "chromosome 1Qter deletion syndrome" RELATED [OMIM:612337]
synonym: "intellectual disability, autosomal dominant 22" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612337]
synonym: "intellectual disability, autosomal dominant type 22" EXACT [MONDORULE:2, OMIM:612337]
synonym: "mental retardation, autosomal dominant 22" RELATED DEPRECATED [MONDO:Lexical, OMIM:612337]
synonym: "mental retardation, autosomal dominant type 22" EXACT DEPRECATED [MONDORULE:2, OMIM:612337]
synonym: "MRD22" EXACT ABBREVIATION [DOID:0070052, MONDO:Lexical, OMIM:612337]
synonym: "ZBTB18 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070052 {source="MONDO:equivalentTo"}
xref: MESH:C567346 {source="MONDO:equivalentTo"}
xref: OMIM:612337 {source="MONDO:equivalentTo", source="DOID:0070052"}
xref: Orphanet:36367 {source="MONDO:relatedTo", source="OMIM:612337"}
is_a: MONDO:0015802 {source="DC-OMIM:612337", source="DOID:0070052", source="MONDO:Redundant", source="OMIM:612337"} ! autosomal dominant non-syndromic intellectual disability
intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13030 ! ZBTB18
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13030 {source="MONDO:mim2gene_medgen"} ! ZBTB18

[Term]
id: MONDO:0012870
name: chromosome 2q31.2 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 2q31.2 deletion syndrome" EXACT [OMIM:612345]
xref: DOID:0060416 {source="MONDO:equivalentTo"}
xref: MEDGEN:394109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567344 {source="MONDO:equivalentTo"}
xref: OMIM:612345 {source="MONDO:equivalentTo", source="DOID:0060416"}
xref: UMLS:C2676724 {source="MEDGEN:394109", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:612345", source="DOID:0060416"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016901 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2q31.2 ! 2q31.2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0012871
name: Jervell and Lange-Nielsen syndrome 2
def: "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Jervell and Lange-Nielsen syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612347]
synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern]
synonym: "Jervell and Lange-Nielsen syndrome type 2" EXACT [MONDORULE:1, OMIM:612347]
synonym: "JLNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612347]
synonym: "KCNE1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:10364 {source="MONDO:GARD"}
xref: MEDGEN:394108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567343 {source="MONDO:equivalentTo"}
xref: OMIM:612347 {source="MONDO:equivalentTo"}
xref: Orphanet:768 {source="OMIM:612347"}
xref: Orphanet:90647 {source="OMIM:612347"}
xref: UMLS:C2676723 {source="MEDGEN:394108", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002441 {source="MONDO:Redundant", source="OMIM:612347", source="Orphanet:90647/btnt"} ! Jervell and Lange-Nielsen syndrome
intersection_of: MONDO:0002441 ! Jervell and Lange-Nielsen syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6240 ! KCNE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6240 {source="MONDO:mim2gene_medgen"} ! KCNE1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2" xsd:anyURI {source="GARD:0010364"}

[Term]
id: MONDO:0012872
name: thrombophilia, familial, due to decreased release of tissue plasminogen activator
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hyperfibrinolysis, familial, due to increased release of plat" EXACT [OMIM:612348, OMIM:genemap2]
synonym: "hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator" RELATED [OMIM:612348]
synonym: "THPH9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612348]
synonym: "thrombophilia, familial, due to decreased release of PLAT" EXACT [OMIM:612348, OMIM:genemap2]
synonym: "thrombophilia, familial, due to decreased release of tissue plasminogen activator" EXACT [MONDO:Lexical, OMIM:612348]
xref: DOID:0111906 {source="MONDO:equivalentTo"}
xref: MEDGEN:393574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567341 {source="MONDO:equivalentTo"}
xref: OMIM:612348 {source="MONDO:equivalentTo"}
xref: UMLS:C2676721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393574"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0100240 {source="DC-OMIM:612348", source="MESH:C567341", source="OMIM:612348"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9051 {source="MONDO:mim2gene_medgen"} ! PLAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012873
name: Ehlers-Danlos syndrome, spondylocheirodysplastic type
def: "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers." [Orphanet:157965]
subset: gard_rare {source="GARD:12610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:157965"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS, spondylocheirodysplastic type" EXACT [Orphanet:157965]
synonym: "EDSSPD3" RELATED ABBREVIATION [OMIM:612350]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 3" RELATED [OMIM:612350]
synonym: "SCD-EDS" RELATED [OMIM:612350]
synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" RELATED [OMIM:612350]
xref: DOID:0080739 {source="MONDO:equivalentTo"}
xref: GARD:12610 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:157965", source="Orphanet:157965/attributed", source="Orphanet:157965/ntbt"}
xref: MEDGEN:393515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567340 {source="MONDO:equivalentTo"}
xref: OMIM:612350 {source="MONDO:equivalentTo", source="Orphanet:157965", source="Orphanet:157965/e"}
xref: Orphanet:157965 {source="MONDO:equivalentTo", source="OMIM:612350"}
xref: UMLS:C2676510 {source="MEDGEN:393515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007526 {source="https://orcid.org/0000-0001-5493-2602"} ! Ehlers-Danlos syndrome, spondylodysplastic type
is_a: MONDO:0016761 {source="Orphanet:157965", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0020066 {source="MESH:C567340", source="OMIM:612350", source="Orphanet:157965"} ! Ehlers-Danlos syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20859 {source="MONDO:mim2gene_medgen"} ! SLC39A13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012874
name: porokeratosis 6, disseminated superficial actinic type
subset: gard_rare {source="GARD:15552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POROK6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612353]
synonym: "porokeratosis 6, disseminated superficial" RELATED [OMIM:612353]
synonym: "porokeratosis 6, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:612353]
synonym: "porokeratosis 6, multiple types" RELATED [OMIM:612353]
synonym: "porokeratosis, disseminated superficial actinic, 4" RELATED [OMIM:612353]
xref: GARD:15552 {source="MONDO:GARD"}
xref: MEDGEN:394063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567339 {source="MONDO:equivalentTo"}
xref: OMIM:612353 {source="MONDO:equivalentTo"}
xref: Orphanet:79152 {source="OMIM:612353"}
xref: UMLS:C2676508 {source="MEDGEN:394063", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:612353"} ! porokeratosis
is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis

[Term]
id: MONDO:0012875
name: inflammatory bowel disease 21
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11." [DOID:0110906, PMID:17554261]
synonym: "IBD21" EXACT ABBREVIATION [DOID:0110906, MONDO:Lexical, OMIM:612354]
synonym: "inflammatory bowel disease 21" EXACT [MONDO:Lexical, OMIM:612354]
synonym: "inflammatory bowel disease type 21" EXACT [DOID:0110906, MONDORULE:2]
xref: DOID:0110906 {source="MONDO:equivalentTo"}
xref: MEDGEN:436705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567338 {source="MONDO:equivalentTo"}
xref: OMIM:612354 {source="MONDO:equivalentTo", source="DOID:0110906"}
xref: Orphanet:206 {source="OMIM:612354"}
xref: Orphanet:771 {source="OMIM:612354"}
xref: UMLS:C2676507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436705"}
is_a: MONDO:0005265 {source="DC-OMIM:612354", source="DOID:0110906", source="MESH:C567338", source="OMIM:612354"} ! inflammatory bowel disease

[Term]
id: MONDO:0012876
name: heparin cofactor 2 deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hcf 2 deficiency" RELATED [OMIM:612356]
synonym: "Hcf2 deficiency" RELATED [OMIM:612356]
synonym: "heparin cofactor 2 deficiency" EXACT CLINGEN_LABEL []
synonym: "heparin cofactor II deficiency" RELATED [OMIM:612356]
synonym: "thrombophilia 10 due to heparin cofactor II deficiency" EXACT [OMIM:612356, OMIM:genemap2]
synonym: "thrombophilia due to heparin cofactor 2 deficiency" RELATED [OMIM:612356]
xref: DOID:0111901 {source="MONDO:equivalentTo"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562865 {source="MONDO:equivalentTo"}
xref: OMIM:612356 {source="MONDO:equivalentTo"}
xref: SCTID:234468009 {source="MONDO:equivalentTo"}
xref: UMLS:C0398626 {source="MEDGEN:96017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0100240 {source="DC-OMIM:612356", source="OMIM:612356"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4838 {source="MONDO:mim2gene_medgen"} ! SERPIND1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012877
name: major affective disorder 8
synonym: "bipolar affective disorder" RELATED [OMIM:612357]
synonym: "MAFD8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612357]
synonym: "MAJOR affective disorder 8" RELATED [OMIM:612357]
synonym: "major affective disorder 8" EXACT [OMIM:612357]
synonym: "major affective disorder-8, susceptibility to" EXACT [OMIM:612357, OMIM:genemap2]
xref: MEDGEN:397794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567530 {source="MONDO:equivalentTo"}
xref: OMIM:612357 {source="MONDO:equivalentTo"}
xref: UMLS:C2700439 {source="MONDO:equivalentTo", source="MEDGEN:397794", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:612357", source="MESH:C567530", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012878
name: Cowden syndrome 2
def: "Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cowden disease caused by mutation in SDHB" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 2" EXACT [MONDO:Lexical, OMIM:612359]
synonym: "Cowden syndrome type 2" EXACT [MONDORULE:1, OMIM:612359]
synonym: "CWS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612359]
synonym: "SDHB Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MESH:C567337 {source="MONDO:equivalentTo"}
xref: OMIM:612359 {source="MONDO:equivalentObsolete"}
xref: Orphanet:201 {source="OMIM:612359"}
is_a: MONDO:0016063 {source="DC-OMIM:612359", source="MESH:C567337", source="MONDO:Redundant", source="OMIM:612359"} ! Cowden disease
intersection_of: MONDO:0016063 ! Cowden disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10681 ! SDHB
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:612359"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10681 {source="MONDO:mim2gene_medgen"} ! SDHB

[Term]
id: MONDO:0012879
name: schizophrenia 14
def: "A schizophrenia that has material basis in a mutation on chromosome 2q32.1." [DOID:0070090]
synonym: "schizophrenia 14" EXACT [OMIM:612361]
synonym: "schizophrenia susceptibility locus, chromosome 2Q32-related" RELATED [OMIM:612361]
synonym: "schizophrenia type 14" EXACT [MONDORULE:2, OMIM:612361]
synonym: "schizophrenia, susceptibility to, 14" EXACT [OMIM:612361, OMIM:genemap2]
synonym: "SCZD14" EXACT ABBREVIATION [DOID:0070090]
synonym: "Sczd14" RELATED [OMIM:612361]
xref: DOID:0070090 {source="MONDO:equivalentTo"}
xref: MEDGEN:436991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612361 {source="MONDO:equivalentTo", source="DOID:0070090"}
xref: UMLS:C2677614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436991"}
is_a: MONDO:0100182 {source="OMIM:612361", source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia, susceptibility to
relationship: excluded_subClassOf MONDO:0005090 {source="DOID:0070090", source="OMIM:612361", source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia
relationship: predisposes_towards MONDO:0005090 {source="OMIM:612361"} ! schizophrenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012880
name: hypogonadotropic hypogonadism 5 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10773", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHD7 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612370]
synonym: "hypogonadotropic hypogonadism 5 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612370]
synonym: "hypogonadotropic hypogonadism caused by mutation in CHD7" EXACT [MONDO:design_pattern]
synonym: "KAL5" NARROW ABBREVIATION [GARD:0010773]
synonym: "Kallmann syndrome 5" RELATED [GARD:0010773]
xref: DOID:0090084 {source="MONDO:equivalentTo"}
xref: GARD:10773 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="DOID:0090084", source="MONDO:relatedTo"}
xref: MEDGEN:765467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567220 {source="MONDO:equivalentTo"}
xref: OMIM:612370 {source="DOID:0090084", source="GARD:0010773", source="MONDO:equivalentTo"}
xref: UMLS:C3552553 {source="MEDGEN:765467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090084", source="MONDO:0012880/inferred", source="MONDO:Redundant", source="OMIM:612370"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="MESH:C567220", source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20626 ! CHD7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20626 {source="MONDO:mim2gene_medgen"} ! CHD7
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5" xsd:anyURI {source="GARD:0010773"}

[Term]
id: MONDO:0012881
name: major affective disorder 7
synonym: "bipolar affective disorder" RELATED [OMIM:612371]
synonym: "MAFD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612371]
synonym: "major affective disorder 7" EXACT [MONDO:Lexical, OMIM:612371]
synonym: "major affective disorder type 7" EXACT [MONDORULE:1, OMIM:612371]
synonym: "major affective disorder-7, susceptibility to" EXACT [OMIM:612371, OMIM:genemap2]
xref: MEDGEN:438008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567529 {source="MONDO:equivalentTo"}
xref: OMIM:612371 {source="MONDO:equivalentTo"}
xref: UMLS:C2700438 {source="MEDGEN:438008", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:612371", source="MESH:C567529", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder
intersection_of: MONDO:0004985 ! bipolar disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12801 ! XBP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12801 {source="MONDO:mim2gene_medgen"} ! XBP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012882
name: major affective disorder 9
synonym: "bipolar affective disorder" RELATED [OMIM:612372]
synonym: "MAFD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612372]
synonym: "MAJOR affective disorder 9" RELATED [OMIM:612372]
synonym: "major affective disorder 9" EXACT [OMIM:612372]
synonym: "major affective disorder-9, susceptibility to" EXACT [OMIM:612372, OMIM:genemap2]
xref: MEDGEN:398108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567531 {source="MONDO:equivalentTo"}
xref: OMIM:612372 {source="MONDO:equivalentTo"}
xref: UMLS:C2700440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:398108"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004985 {source="DC-OMIM:612372", source="MESH:C567531", source="https://orcid.org/0000-0002-6601-2165"} ! bipolar disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012883
name: acute promyelocytic leukemia
def: "An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue." [Orphanet:520]
subset: gard_rare {source="GARD:538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2003"}
subset: ordo_disorder {source="Orphanet:520"}
subset: orphanet_rare {source="Orphanet:520"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute myeloblastic leukaemia 3" EXACT OMO:0003005 []
synonym: "acute myeloblastic leukaemia type 3" EXACT OMO:0003005 []
synonym: "acute myeloblastic leukemia 3" EXACT [Orphanet:520]
synonym: "acute myeloblastic leukemia type 3" EXACT [DOID:0060318]
synonym: "acute myeloid leukaemia M3" EXACT OMO:0003005 []
synonym: "acute myeloid leukaemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia M3" EXACT [DOID:0060318]
synonym: "acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520]
synonym: "acute promyelocytic leukaemia with PML-rara" EXACT OMO:0003005 []
synonym: "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-rara" EXACT OMO:0003005 []
synonym: "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara" EXACT OMO:0003005 []
synonym: "acute promyelocytic leukemia" EXACT [MONDO:Lexical, OMIM:612376]
synonym: "acute promyelocytic leukemia with PML-rara" EXACT [NCIT:C3182]
synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara" EXACT [NCIT:C3182]
synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara" EXACT [NCIT:C3182]
synonym: "AML M3" EXACT [Orphanet:520]
synonym: "AML with t(15;17)(q22;q12)" EXACT [NCIT:C3182]
synonym: "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520]
synonym: "APL" EXACT ABBREVIATION [DOID:0060318, MONDO:Lexical, OMIM:612376]
synonym: "APML" EXACT ABBREVIATION [Orphanet:520]
synonym: "APML - acute promyelocytic leukaemia" EXACT OMO:0003005 []
synonym: "APML - acute promyelocytic leukemia" EXACT [NCIT:C3182]
synonym: "FAB M3" EXACT [NCIT:C3182]
synonym: "leukemia, acute promyelocytic" RELATED [OMIM:612376]
synonym: "leukemia, acute promyelocytic, somatic" EXACT [OMIM:612376, OMIM:genemap2]
synonym: "promyelocytic leukaemia" EXACT OMO:0003005 []
synonym: "promyelocytic leukemia" EXACT [NCIT:C3182]
xref: DOID:0060318 {source="EFO:0000224", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0081081 {source="MONDO:equivalentTo"}
xref: EFO:0000224 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:538 {source="MONDO:GARD"}
xref: ICD10CM:C92.4 {source="Orphanet:520/e", source="DOID:0060318", source="Orphanet:520"}
xref: ICD10CM:C92.40 {source="DOID:0060318"}
xref: ICDO:9866/3 {source="NCIT:C3182"}
xref: MedDRA:10001019 {source="Orphanet:520/e", source="Orphanet:520"}
xref: MEDGEN:44127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015473 {source="Orphanet:520/e", source="MONDO:equivalentTo", source="DOID:0060318", source="Orphanet:520"}
xref: NANDO:2200007 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3182 {source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318"}
xref: NORD:2003 {source="MONDO:NORD"}
xref: OMIM:612376 {source="Orphanet:520/e", source="EFO:0000224", source="MONDO:equivalentTo", source="DOID:0060318", source="Orphanet:520"}
xref: Orphanet:520 {source="OMIM:612376", source="MONDO:equivalentTo", source="DOID:0060318"}
xref: SCTID:110004001 {source="MONDO:equivalentTo", source="DOID:0060318"}
xref: SCTID:28950004 {source="EFO:0000224", source="DOID:0060318"}
xref: UMLS:C0023487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44127"}
is_a: MONDO:0018874 {source="NCIT:C3182", source="Orphanet:520"} ! acute myeloid leukemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0011118 {source="DOID:0060318", source="EFO:0000224", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012884
name: systemic lupus erythematosus, susceptibility to, 13
subset: predisposition
synonym: "SLEB13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612378]
synonym: "systemic lupus erythematosus, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:612378]
xref: MEDGEN:382864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612378 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:612378"}
xref: UMLS:C2676487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382864"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0012885
name: SRD5A3-congenital disorder of glycosylation
def: "A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." [Orphanet:324737]
subset: gard_rare {source="GARD:12397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324737"}
subset: orphanet_rare {source="Orphanet:324737"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDG Iq" RELATED [OMIM:612379]
synonym: "CDG syndrome type Iq" EXACT [Orphanet:324737]
synonym: "CDG-Iq" EXACT [Orphanet:324737]
synonym: "CDG1Q" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612379, Orphanet:324737]
synonym: "CDGIq" RELATED [GARD:0012397]
synonym: "coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities" RELATED [OMIM:612379]
synonym: "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency" RELATED [GARD:0012397]
synonym: "congenital disorder of glycosylation type 1q" EXACT [Orphanet:324737]
synonym: "congenital disorder of glycosylation type Iq" EXACT [Orphanet:324737]
synonym: "congenital disorder of glycosylation, type Iq" RELATED [MONDO:Lexical, OMIM:612379]
synonym: "SRD5A3-CDG" EXACT ABBREVIATION [Orphanet:324737]
synonym: "SRD5A3-CDG (CDG-Iq)" RELATED [GARD:0012397]
synonym: "SRD5A3-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0080568 {source="MONDO:equivalentTo"}
xref: GARD:12397 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:324737", source="Orphanet:324737/attributed", source="Orphanet:324737/ntbt"}
xref: MEDGEN:1392124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612379 {source="MONDO:equivalentTo", source="Orphanet:324737", source="Orphanet:324737/e"}
xref: Orphanet:139477 {source="OMIM:612379"}
xref: Orphanet:324737 {source="OMIM:612379", source="MONDO:equivalentTo"}
xref: SCTID:733601006 {source="MONDO:equivalentTo"}
xref: UMLS:C4317224 {source="MEDGEN:1392124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:612379"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MONDO:0012885/inferred", source="MONDO:Redundant", source="OMIM:612379", source="Orphanet:324737/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017749 {source="Orphanet:324737"} ! disorder of multiple glycosylation
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0020145 {source="MONDO:0020149-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete developmental defect of the eye
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25812 {source="MONDO:mim2gene_medgen"} ! SRD5A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0012886
name: inflammatory bowel disease 22
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2." [DOID:0110905, PMID:18438405]
synonym: "IBD22" EXACT ABBREVIATION [DOID:0110905, MONDO:Lexical, OMIM:612380]
synonym: "inflammatory bowel disease 22" EXACT [MONDO:Lexical, OMIM:612380]
synonym: "inflammatory bowel disease type 22" EXACT [DOID:0110905, MONDORULE:2]
xref: DOID:0110905 {source="MONDO:equivalentTo"}
xref: MEDGEN:382862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567327 {source="MONDO:equivalentTo"}
xref: OMIM:612380 {source="MONDO:equivalentTo", source="DOID:0110905"}
xref: Orphanet:206 {source="OMIM:612380"}
xref: Orphanet:771 {source="OMIM:612380"}
xref: UMLS:C2676485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382862"}
is_a: MONDO:0005265 {source="DC-OMIM:612380", source="DOID:0110905", source="MESH:C567327", source="OMIM:612380"} ! inflammatory bowel disease

[Term]
id: MONDO:0012887
name: inflammatory bowel disease 23
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1." [DOID:0110884, PMID:15937090, PMID:18587394]
synonym: "IBD23" EXACT ABBREVIATION [DOID:0110884, MONDO:Lexical, OMIM:612381]
synonym: "inflammatory bowel disease 23" EXACT [MONDO:Lexical, OMIM:612381]
synonym: "inflammatory bowel disease type 23" EXACT [DOID:0110884, MONDORULE:2]
xref: DOID:0110884 {source="MONDO:equivalentTo"}
xref: MEDGEN:382861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567326 {source="MONDO:equivalentTo"}
xref: OMIM:612381 {source="MONDO:equivalentTo", source="DOID:0110884"}
xref: Orphanet:206 {source="OMIM:612381"}
xref: Orphanet:771 {source="OMIM:612381"}
xref: UMLS:C2676484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382861"}
is_a: MONDO:0005265 {source="DC-OMIM:612381", source="DOID:0110884", source="MESH:C567326", source="OMIM:612381"} ! inflammatory bowel disease

[Term]
id: MONDO:0012888
name: sarcoidosis, susceptibility to, 2
def: "Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "BTNL2 sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sarcoidosis caused by mutation in BTNL2" EXACT [MONDO:design_pattern]
synonym: "sarcoidosis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612387]
synonym: "sarcoidosis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612387]
synonym: "SS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612387]
synonym: "susceptibility to sarcoidosis 2" RELATED [OMIM:612387]
xref: MEDGEN:436694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612387 {source="MONDO:equivalentTo"}
xref: Orphanet:797 {source="OMIM:612387"}
xref: UMLS:C2676468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436694"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1142 ! BTNL2
intersection_of: predisposes_towards MONDO:0019338 ! sarcoidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1142 {source="MONDO:mim2gene_medgen"} ! BTNL2

[Term]
id: MONDO:0012889
name: sarcoidosis, susceptibility to, 3
subset: predisposition
synonym: "sarcoidosis, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612388]
synonym: "SS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612388]
xref: MEDGEN:436693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612388 {source="MONDO:equivalentTo"}
xref: Orphanet:797 {source="OMIM:612388"}
xref: UMLS:C2676467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436693"}
is_a: MONDO:0020573 {source="OMIM:612388"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0019338 {source="DC-OMIM:612388", source="https://orcid.org/0000-0001-5208-3432"} ! sarcoidosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012890
name: pontocerebellar hypoplasia type 2B
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2" EXACT [MONDO:design_pattern]
synonym: "PCH2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612389]
synonym: "pontocerebellar hypoplasia type 2B" EXACT CLINGEN_LABEL []
synonym: "pontocerebellar hypoplasia, type 2B" RELATED [MONDO:Lexical, OMIM:612389]
synonym: "TSEN2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060268 {source="MONDO:equivalentTo"}
xref: GARD:15553 {source="MONDO:GARD"}
xref: MEDGEN:393505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567325 {source="DOID:0060268", source="MONDO:equivalentTo"}
xref: OMIM:612389 {source="DOID:0060268", source="MONDO:equivalentTo"}
xref: Orphanet:2524 {source="DOID:0060268", source="OMIM:612389"}
xref: UMLS:C2676466 {source="MEDGEN:393505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2
is_a: MONDO:0020135 {source="DOID:0060268", source="MONDO:Redundant", source="OMIM:612389"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28422 ! TSEN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28422 {source="MONDO:mim2gene_medgen"} ! TSEN2

[Term]
id: MONDO:0012891
name: pontocerebellar hypoplasia type 2C
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15554", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34" EXACT [MONDO:design_pattern]
synonym: "PCH2C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612390]
synonym: "pontocerebellar hypoplasia, type 2C" RELATED [MONDO:Lexical, OMIM:612390]
synonym: "TSEN34 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060269 {source="MONDO:equivalentTo"}
xref: GARD:15554 {source="MONDO:GARD"}
xref: MEDGEN:382856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567324 {source="MONDO:equivalentTo", source="DOID:0060269"}
xref: OMIM:612390 {source="MONDO:equivalentTo", source="DOID:0060269"}
xref: Orphanet:2524 {source="DOID:0060269", source="OMIM:612390"}
xref: UMLS:C2676465 {source="MEDGEN:382856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2
is_a: MONDO:0020135 {source="DOID:0060269", source="MONDO:Redundant", source="OMIM:612390"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15506 ! TSEN34
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15506 {source="MONDO:mim2gene_medgen"} ! TSEN34

[Term]
id: MONDO:0012892
name: bone fragility with contractures, arterial rupture, and deafness
def: "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." [Orphanet:300284]
subset: gard_rare {source="GARD:17362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300284"}
subset: orphanet_rare {source="Orphanet:300284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone fragility with contractures, arterial rupture, and deafness" EXACT [OMIM:612394]
synonym: "bone fragility-contractures-arterial rupture-deafness syndrome" EXACT [Orphanet:300284]
synonym: "connective tissue disorder due to LH3 deficiency" EXACT [Orphanet:300284]
synonym: "connective tissue disorder due to lysyl hydroxylase-3 deficiency" EXACT CLINGEN_LABEL [Orphanet:300284]
synonym: "LH3 deficiency" RELATED [OMIM:612394]
synonym: "lysyl Hydroxylase 3 deficiency" RELATED [OMIM:612394]
xref: GARD:17362 {source="MONDO:GARD"}
xref: MEDGEN:382811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567320 {source="MONDO:equivalentTo"}
xref: OMIM:612394 {source="Orphanet:300284/e", source="MONDO:equivalentTo", source="Orphanet:300284"}
xref: Orphanet:300284 {source="MONDO:equivalentTo", source="OMIM:612394"}
xref: SCTID:763318007 {source="MONDO:equivalentTo"}
xref: UMLS:C2676285 {source="MEDGEN:382811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disorder of connective tissue
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9083 {source="MONDO:mim2gene_medgen"} ! PLOD3

[Term]
id: MONDO:0012893
name: osteoarthritis susceptibility 5
def: "Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "GDF5 osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612400]
synonym: "osteoarthritis caused by mutation in GDF5" EXACT [MONDO:design_pattern]
synonym: "osteoarthritis of hip" RELATED [OMIM:612400]
synonym: "osteoarthritis susceptibility 5" EXACT [MONDO:Lexical, OMIM:612400]
synonym: "osteoarthritis susceptibility type 5" EXACT [MONDORULE:1, OMIM:612400]
synonym: "osteoarthritis-5" EXACT [OMIM:612400, OMIM:genemap2]
xref: MEDGEN:1674605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612400 {source="MONDO:equivalentTo"}
xref: SCTID:239872002 {source="MONDO:equivalentTo"}
xref: UMLS:C4759728 {source="MEDGEN:1674605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 ! GDF5
intersection_of: predisposes_towards MONDO:0005178 ! osteoarthritis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012894
name: osteoarthritis susceptibility 6
synonym: "OS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612401]
synonym: "osteoarthritis of knee" RELATED [OMIM:612401]
synonym: "osteoarthritis susceptibility 6" EXACT [MONDO:Lexical, OMIM:612401]
xref: ICD9:715.96 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: OMIM:612401 {source="MONDO:equivalentTo"}
xref: SCTID:239873007 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIM:612401"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005178 {source="DC-OMIM:612401", source="https://orcid.org/0000-0001-5208-3432"} ! osteoarthritis
relationship: predisposes_towards MONDO:0005178 {source="OMIM:612401"} ! osteoarthritis

[Term]
id: MONDO:0012895
name: torsion dystonia 17
def: "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12." [DOID:0090042]
subset: gard_rare {source="GARD:10536", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370103"}
subset: orphanet_rare {source="Orphanet:370103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 17, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612406]
synonym: "dystonia-17, primary torsion" EXACT [OMIM:612406, OMIM:genemap2]
synonym: "DYT17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612406]
synonym: "primary dystonia, DYT17 type" RELATED [Orphanet:370103]
synonym: "torsion dystonia type 17" EXACT [DOID:0090042, MONDORULE:2]
xref: DOID:0090042 {source="MONDO:equivalentTo"}
xref: GARD:10536 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="DOID:0090042", source="Orphanet:370103/attributed", source="Orphanet:370103/ntbt", source="Orphanet:370103"}
xref: MEDGEN:391003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567319 {source="MONDO:equivalentTo"}
xref: NANDO:1200530 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612406 {source="Orphanet:370103/e", source="DOID:0090042", source="MONDO:equivalentTo", source="Orphanet:370103"}
xref: Orphanet:370103 {source="DOID:0090042", source="MONDO:equivalentTo", source="OMIM:612406"}
xref: UMLS:C2676281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:391003"}
is_a: MONDO:0015990 {source="Orphanet:370103"} ! focal, segmental or multifocal dystonia
is_a: MONDO:0044807 {source="DOID:0090042", source="MESH:C567319", source="MONDO:Redundant", source="OMIM:612406"} ! inherited dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012896
name: psoriasis 10, susceptibility to
synonym: "psoriasis 10, susceptibility to" EXACT [MONDO:Lexical, OMIM:612410]
synonym: "psoriasis susceptibility 10" EXACT [OMIM:612410, OMIM:genemap2]
synonym: "PSORS10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612410]
xref: DOID:0111289 {source="MONDO:equivalentTo"}
xref: MEDGEN:854730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612410 {source="MONDO:equivalentTo"}
xref: UMLS:C3888028 {source="MEDGEN:854730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:612410"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:612410", source="OMIM:612410"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012897
name: congenital factor XI deficiency
def: "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." [Orphanet:329]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9670", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329"}
subset: orphanet_rare {source="Orphanet:329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital factor XI deficiency" EXACT CLINGEN_LABEL [DOID:2229, ICD9CM:286.2]
synonym: "F11 deficiency" RELATED [OMIM:612416]
synonym: "factor 11 deficiency" RELATED [OMIM:612416]
synonym: "factor XI deficiency" RELATED [OMIM:612416]
synonym: "factor XI deficiency, autosomal dominant" EXACT [OMIM:612416, OMIM:genemap2]
synonym: "factor XI deficiency, autosomal recessive" EXACT [OMIM:612416, OMIM:genemap2]
synonym: "haemophilia C" EXACT OMO:0003005 []
synonym: "hemophilia C" EXACT [DOID:2229, Orphanet:329]
synonym: "hereditary Factor XI deficiency" EXACT [NCIT:C84705]
synonym: "hereditary factor XI deficiency" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary factor XI deficiency disease" EXACT [DOID:2229]
synonym: "plasma thromboplastin antecedent deficiency" EXACT [DOID:2229, Orphanet:329]
synonym: "PTA deficiency" EXACT [OMIM:612416, Orphanet:329]
synonym: "Rosenthal factor deficiency" EXACT [Orphanet:329]
synonym: "Rosenthal syndrome" EXACT [OMIM:612416, Orphanet:329]
synonym: "Rosenthal's disease" EXACT [DOID:2229]
xref: DOID:2229 {source="MONDO:equivalentTo"}
xref: GARD:9670 {source="MONDO:GARD"}
xref: ICD10CM:D68.1 {source="Orphanet:329", source="Orphanet:329/specific", source="DOID:2229", source="Orphanet:329/e"}
xref: icd11.foundation:413739466 {source="MONDO:equivalentTo", source="Orphanet:329", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:286.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2229"}
xref: MEDGEN:8770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005173 {source="DOID:2229"}
xref: NCIT:C84705 {source="MONDO:equivalentTo", source="DOID:2229"}
xref: OMIM:612416 {source="MONDO:equivalentTo", source="Orphanet:329", source="DOID:2229", source="Orphanet:329/e"}
xref: Orphanet:329 {source="MONDO:equivalentTo", source="OMIM:612416"}
xref: SCTID:49762007 {source="MONDO:equivalentTo", source="DOID:2229"}
xref: UMLS:C0015523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8770"}
is_a: MONDO:0000429 {source="DOID:2229"} ! autosomal genetic disease
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 {source="MESH:D005173"} ! hemorrhagic disease
is_a: MONDO:0021181 {source="MESH:D005173", source="MONDO:Redundant"} ! inherited blood coagulation disorder
intersection_of: MONDO:0020587 ! factor XI deficiency
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3529 {source="MONDO:mim2gene_medgen"} ! F11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency" xsd:anyURI {source="GARD:0009670"}

[Term]
id: MONDO:0012898
name: narcolepsy 4, susceptibility to
subset: predisposition
synonym: "narcolepsy 4" RELATED [OMIM:612417, OMIM:genemap2]
synonym: "narcolepsy 4, susceptibility to" EXACT [OMIM:612417]
synonym: "NRCLP4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612417]
xref: MEDGEN:391001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612417 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:612417"}
xref: UMLS:C2676275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:391001"}
is_a: MONDO:0100049 {source="DC-OMIM:612417"} ! narcolepsy, susceptibility to
relationship: predisposes_towards MONDO:0021107 {source="OMIM:612417"} ! narcolepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012899
name: alopecia, androgenetic, 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGA3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612421]
synonym: "alopecia, androgenetic, 3" EXACT [MONDO:Lexical, OMIM:612421]
xref: MEDGEN:382808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567317 {source="MONDO:equivalentTo"}
xref: OMIM:612421 {source="MONDO:equivalentTo"}
xref: UMLS:C2676272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382808"}
is_a: MONDO:0000005 {source="DC-OMIM:612421", source="OMIM:612421"} ! alopecia, isolated
is_a: MONDO:0005339 ! androgenetic alopecia

[Term]
id: MONDO:0012900
name: cardiomyopathy, familial restrictive, 3
def: "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, familial restrictive, 3" EXACT [MONDO:Lexical, OMIM:612422]
synonym: "cardiomyopathy, familial restrictive, type 3" EXACT [MONDORULE:1, OMIM:612422]
synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern]
synonym: "RCM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612422]
synonym: "TNNT2 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111427 {source="MONDO:equivalentTo"}
xref: GARD:18072 {source="MONDO:GARD"}
xref: MEDGEN:382807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567316 {source="MONDO:equivalentTo"}
xref: OMIM:612422 {source="MONDO:equivalentTo"}
xref: Orphanet:75249 {source="OMIM:612422"}
xref: UMLS:C2676271 {source="MEDGEN:382807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016340 {source="MONDO:Redundant", source="OMIM:612422"} ! familial restrictive cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 {source="MONDO:mim2gene_medgen"} ! TNNT2

[Term]
id: MONDO:0012901
name: inherited prekallikrein deficiency
def: "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4477", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:749"}
subset: orphanet_rare {source="Orphanet:749"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital prekallikrein deficiency" EXACT [Orphanet:749]
synonym: "fletcher factor (prekallikrein) deficiency" EXACT [OMIM:612423, OMIM:genemap2]
synonym: "Fletcher Factor deficiency" RELATED [OMIM:612423]
synonym: "hereditary prekallikrein deficiency" EXACT [MONDO:patterns/hereditary]
synonym: "PKK deficiency" RELATED [OMIM:612423]
synonym: "prekallikrein deficiency" RELATED [OMIM:612423]
synonym: "prekallikrein deficiency, congenital" RELATED [GARD:0004477]
xref: GARD:4477 {source="MONDO:GARD"}
xref: ICD10CM:D68.8 {source="Orphanet:749", source="Orphanet:749/attributed", source="Orphanet:749/ntbt"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C562725 {source="MONDO:equivalentTo"}
xref: NANDO:2200684 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612423 {source="MONDO:equivalentTo", source="Orphanet:749", source="Orphanet:749/e"}
xref: Orphanet:749 {source="OMIM:612423", source="MONDO:equivalentTo"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
intersection_of: MONDO:0044744 ! prekallikrein deficiency
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6371 {source="MONDO:mim2gene_medgen"} ! KLKB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital" xsd:anyURI {source="GARD:0004477"}

[Term]
id: MONDO:0012902
name: autosomal dominant nonsyndromic hearing loss 27
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1." [DOID:0110556, PMID:18279434]
subset: gard_rare {source="GARD:18128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 27" NARROW [DOID:0110556]
synonym: "autosomal dominant nonsyndromic deafness 27" NARROW [OMIM:612431]
synonym: "autosomal dominant nonsyndromic deafness type 27" NARROW [DOID:0110556, MONDORULE:2]
synonym: "deafness, autosomal dominant 27" NARROW [MONDO:Lexical, OMIM:612431, OMIM:genemap2]
synonym: "DFNA27" NARROW ABBREVIATION [DOID:0110556, MONDO:Lexical, OMIM:612431]
xref: DOID:0110556 {source="MONDO:equivalentTo"}
xref: GARD:18128 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110556"}
xref: MEDGEN:854637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612431 {source="DOID:0110556", source="MONDO:equivalentTo"}
xref: UMLS:C3887929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854637"}
is_a: MONDO:0019587 {source="DC-OMIM:612431", source="DOID:0110556", source="OMIM:612431"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012903
name: autosomal recessive nonsyndromic hearing loss 45
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44." [DOID:0110502, PMID:18325041]
subset: gard_rare {source="GARD:22628", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 45" NARROW [DOID:0110502]
synonym: "autosomal recessive nonsyndromic deafness 45" NARROW [OMIM:612433]
synonym: "autosomal recessive nonsyndromic deafness type 45" NARROW [DOID:0110502, MONDORULE:2]
synonym: "deafness, autosomal recessive 45" NARROW [MONDO:Lexical, OMIM:612433, OMIM:genemap2]
synonym: "DFNB45" NARROW ABBREVIATION [DOID:0110502, MONDO:Lexical, OMIM:612433]
xref: DOID:0110502 {source="MONDO:equivalentTo"}
xref: GARD:22628 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110502"}
xref: MEDGEN:854732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612433 {source="DOID:0110502", source="MONDO:equivalentTo"}
xref: UMLS:C3888030 {source="MEDGEN:854732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:612433", source="DOID:0110502", source="OMIM:612433"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012904
name: epilepsy, progressive myoclonic, 1B
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, progressive myoclonic 1B" EXACT [OMIM:612437, OMIM:genemap2]
synonym: "epilepsy, progressive myoclonic, 1B" EXACT [MONDO:Lexical, OMIM:612437]
synonym: "epilepsy, progressive myoclonic, type 1B" EXACT [MONDORULE:4, OMIM:612437]
synonym: "EPM1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612437]
synonym: "PRICKLE1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE1" EXACT [MONDO:design_pattern]
xref: DOID:0111448 {source="MONDO:equivalentTo"}
xref: GARD:15556 {source="MONDO:GARD"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:394003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580388 {source="MONDO:equivalentTo"}
xref: OMIM:612437 {source="MONDO:equivalentTo"}
xref: Orphanet:308 {source="OMIM:612437"}
xref: SCTID:702326000 {source="MONDO:equivalentTo"}
xref: UMLS:C2676254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394003"}
is_a: MONDO:0020074 {source="MESH:C580388", source="MONDO:Redundant", source="OMIM:612437"} ! progressive myoclonus epilepsy
intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17019 ! PRICKLE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17019 {source="MONDO:mim2gene_medgen"} ! PRICKLE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012905
name: hypomyelinating leukodystrophy 6
def: "A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." [Orphanet:139441]
subset: gard_rare {source="GARD:10917", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139441"}
subset: orphanet_rare {source="Orphanet:139441"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "H-ABC" EXACT [DOID:0060798, Orphanet:139441]
synonym: "HABC" EXACT ABBREVIATION [DOID:0060798]
synonym: "HLD6" EXACT ABBREVIATION [DOID:0060798, MONDO:Lexical, OMIM:612438]
synonym: "hypomyelinating leukodystrophy type 6" EXACT [DOID:0060798, MONDORULE:1]
synonym: "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT [DOID:0060798]
synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT [DOID:0060798]
synonym: "leukodystrophy, hypomyelinating, 6" RELATED [MONDO:Lexical, OMIM:612438]
synonym: "leukodystrophy, hypomyelinating, type 6" EXACT [MONDORULE:1, OMIM:612438]
synonym: "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" RELATED [OMIM:612438]
xref: DOID:0060798 {source="MONDO:equivalentTo"}
xref: GARD:10917 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="DOID:0060798", source="Orphanet:139441/attributed", source="Orphanet:139441/ntbt", source="Orphanet:139441"}
xref: MEDGEN:436642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567314 {source="MONDO:equivalentTo"}
xref: NANDO:1200578 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201290 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612438 {source="Orphanet:139441/e", source="DOID:0060798", source="MONDO:equivalentTo", source="Orphanet:139441"}
xref: Orphanet:139441 {source="DOID:0060798", source="MONDO:equivalentTo", source="OMIM:612438"}
xref: UMLS:C2676244 {source="MEDGEN:436642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="DOID:0060798", source="DOID:0060798/inferred", source="OMIM:612438", source="Orphanet:139441"} ! leukodystrophy
is_a: MONDO:0800470 {source="PMID:28973395", source="PMID:35275727", source="https://orcid.org/0000-0002-0505-2091"} ! TUBB4A-related neurologic disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20774 {source="PMID:28973395", source="PMID:35275727", source="https://orcid.org/0000-0002-0505-2091"} ! TUBB4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6821" xsd:anyURI

[Term]
id: MONDO:0012906
name: primary ciliary dyskinesia 9
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15558", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD9" EXACT ABBREVIATION [DOID:0110622, MONDO:Lexical, OMIM:612444]
synonym: "ciliary dyskinesia, primary, 9" RELATED [MONDO:Lexical, OMIM:612444]
synonym: "ciliary dyskinesia, primary, 9, with or without situs inversus" RELATED [OMIM:612444]
synonym: "ciliary dyskinesia, primary, type 9" EXACT [MONDORULE:1, OMIM:612444]
synonym: "DNAI2 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 9" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 9 with or without situs inversus" EXACT [DOID:0110622]
synonym: "primary ciliary dyskinesia caused by mutation in DNAI2" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 9" EXACT [DOID:0110622, MONDORULE:1]
xref: DOID:0110622 {source="MONDO:equivalentTo"}
xref: GARD:15558 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110622"}
xref: MEDGEN:390990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567310 {source="MONDO:equivalentTo"}
xref: OMIM:612444 {source="DOID:0110622", source="MONDO:equivalentTo"}
xref: UMLS:C2676235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390990"}
is_a: MONDO:0016575 {source="DC-OMIM:612444", source="DOID:0110622", source="MESH:C567310", source="MESH:C567310/inferred", source="MONDO:Redundant", source="OMIM:612444"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18744 ! DNAI2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18744 {source="MONDO:mim2gene_medgen"} ! DNAI2

[Term]
id: MONDO:0012907
name: blindness - scoliosis - arachnodactyly syndrome
def: "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes." [Orphanet:171844]
subset: gard_rare {source="GARD:17070", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:171844"}
subset: ordo_malformation_syndrome {source="Orphanet:171844"}
subset: orphanet_rare {source="Orphanet:171844"}
subset: rare
synonym: "scoliosis, arachnodactyly, and blindness" RELATED [OMIM:612445]
xref: GARD:17070 {source="MONDO:GARD"}
xref: MEDGEN:436640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567309 {source="MONDO:equivalentTo"}
xref: OMIM:612445 {source="Orphanet:171844/e", source="MONDO:equivalentTo", source="Orphanet:171844"}
xref: Orphanet:171844 {source="OMIM:612445", source="MONDO:equivalentTo"}
xref: SCTID:717920004 {source="MONDO:equivalentTo"}
xref: UMLS:C2676234 {source="MEDGEN:436640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="Orphanet:171844"} ! eye disorder
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare

[Term]
id: MONDO:0012908
name: complement component 6 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18291", source="MONDO:GARD"}
subset: rare
synonym: "C6 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C6 deficiency" RELATED [OMIM:612446]
synonym: "C6 deficiency, subtotal" RELATED [OMIM:612446]
synonym: "C6D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612446]
synonym: "classic complement early component deficiency caused by mutation in C6" EXACT [MONDO:design_pattern]
synonym: "complement component 6 deficiency" EXACT [MONDO:Lexical, OMIM:612446]
synonym: "complement component 6 deficiency, subtotal" RELATED [OMIM:612446]
xref: DOID:0060299 {source="MONDO:equivalentTo"}
xref: GARD:18291 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="DOID:0060299"}
xref: MEDGEN:436639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200784 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612446 {source="DOID:0060299", source="MONDO:equivalentTo"}
xref: Orphanet:169150 {source="DOID:0060299", source="OMIM:612446"}
xref: UMLS:C2676232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436639"}
is_a: MONDO:0000015 {source="DC-OMIM:612446", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
intersection_of: MONDO:0000015 ! classic complement early component deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1339 ! C6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1339 {source="MONDO:mim2gene_medgen"} ! C6

[Term]
id: MONDO:0012909
name: skeletal defects, genital hypoplasia, and intellectual disability
subset: otar {source="MONDO:OTAR"}
synonym: "skeletal defects, genital hypoplasia, and intellectual disability" EXACT [OMIM:612447]
synonym: "skeletal defects, genital hypoplasia, and mental retardation" EXACT DEPRECATED [OMIM:612447]
xref: MEDGEN:382795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567306 {source="MONDO:equivalentTo"}
xref: OMIM:612447 {source="MONDO:equivalentTo"}
xref: UMLS:C2676231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382795"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12930 {source="MONDO:mim2gene_medgen"} ! ZBTB16

[Term]
id: MONDO:0012910
name: age-related hearing impairment 1
synonym: "age-related hearing impairment 1" EXACT [MONDO:Lexical, OMIM:612448]
synonym: "ARHI1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612448]
synonym: "presbycusis 1" RELATED [OMIM:612448]
xref: MEDGEN:382794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567305 {source="MONDO:equivalentTo"}
xref: OMIM:612448 {source="MONDO:equivalentTo"}
xref: UMLS:C2676230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382794"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0043765 {source="DC-OMIM:612448", source="https://orcid.org/0000-0001-5208-3432"} ! presbycusis

[Term]
id: MONDO:0012911
name: pseudohypoparathyroidism type 1C
def: "A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." [Orphanet:79444]
subset: gard_rare {source="GARD:10681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79444"}
subset: orphanet_rare {source="Orphanet:79444"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Php 1C" RELATED [OMIM:612462]
synonym: "PHP1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612462]
synonym: "pseudohypoparathyroidism Ic" EXACT [OMIM:612462, OMIM:genemap2]
synonym: "pseudohypoparathyroidism, type 1C" RELATED [OMIM:612462]
synonym: "pseudohypoparathyroidism, type IC" RELATED [MONDO:Lexical, OMIM:612462]
xref: GARD:10681 {source="MONDO:GARD"}
xref: ICD10CM:E20.1 {source="Orphanet:79444/attributed", source="Orphanet:79444/ntbt", source="Orphanet:79444"}
xref: MEDGEN:420958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548076 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"}
xref: NANDO:1201077 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612462 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"}
xref: Orphanet:665 {source="OMIM:612462"}
xref: Orphanet:79444 {source="OMIM:612462", source="MONDO:equivalentTo"}
xref: SCTID:717792007 {source="MONDO:equivalentTo"}
xref: UMLS:C2932716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:420958"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
is_a: MONDO:0018379 {source="Orphanet:79444"} ! primary avascular necrosis
is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia
is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism
is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c" xsd:anyURI {source="GARD:0010681"}

[Term]
id: MONDO:0012912
name: pseudopseudohypoparathyroidism
def: "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." [Orphanet:79445]
subset: gard_rare {source="GARD:7860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79445"}
subset: orphanet_rare {source="Orphanet:79445"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aho-PPHP syndrome" EXACT [Orphanet:79445]
synonym: "Albright Hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129722]
synonym: "Albright hereditary osteodystrophy without multiple hormone resistance" RELATED [OMIM:612463]
synonym: "Albright hereditary osteodystrophy-PPHP syndrome" EXACT [Orphanet:79445]
synonym: "Normocalcemic pseudohypoparathyroidism" EXACT [DOID:4183]
synonym: "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]" EXACT [DOID:4183]
synonym: "PPHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612463]
synonym: "pseudo-pseudohypoparathyroidism" RELATED [GARD:0007860]
synonym: "Pseudopseudo-hypoparathyroidism" RELATED [GARD:0007860]
synonym: "pseudopseudohypoparathyroidism" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612463]
xref: DOID:4183 {source="MONDO:equivalentTo"}
xref: GARD:7860 {source="MONDO:GARD"}
xref: ICD10CM:E20.1 {source="Orphanet:79445/attributed", source="Orphanet:79445/ntbt", source="Orphanet:79445"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011556 {source="Orphanet:79445/e", source="MONDO:equivalentTo", source="DOID:4183", source="Orphanet:79445"}
xref: NANDO:2200348 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129722 {source="MONDO:equivalentTo"}
xref: OMIM:612463 {source="Orphanet:79445/e", source="MONDO:equivalentTo", source="DOID:4183", source="Orphanet:79445"}
xref: Orphanet:665 {source="OMIM:612463", source="MONDO:equivalentObsolete"}
xref: Orphanet:79445 {source="OMIM:612463", source="MONDO:equivalentTo"}
xref: SCTID:190867002 {source="DOID:4183"}
xref: SCTID:237659007 {source="MONDO:equivalentTo", source="DOID:4183"}
xref: SCTID:8084001 {source="DOID:4183"}
xref: UMLS:C0033835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10995"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia
is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism
is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism" xsd:anyURI {source="GARD:0007860"}

[Term]
id: MONDO:0012913
name: Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
def: "A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene." [NCIT:P378]
subset: gard_rare {source="GARD:15559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 11P13-p12 deletion syndrome" RELATED [OMIM:612469]
synonym: "WAGR syndrome with obesity" RELATED [OMIM:612469]
synonym: "WAGRO" RELATED DEPRECATED [MONDO:Lexical, OMIM:612469]
synonym: "Wagro syndrome" RELATED [OMIM:612469]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome" EXACT [MONDO:Lexical, OMIM:612469]
synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:612469]
synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome" EXACT [NCIT:C122804]
synonym: "Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome" EXACT DEPRECATED [NCIT:C122804]
xref: GARD:15559 {source="MONDO:GARD"}
xref: MEDGEN:382718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567292 {source="MONDO:equivalentTo"}
xref: NCIT:C122804 {source="MONDO:equivalentTo"}
xref: OMIM:612469 {source="MONDO:equivalentTo"}
xref: Orphanet:893 {source="OMIM:612469"}
xref: UMLS:C2675904 {source="MONDO:equivalentTo", source="MEDGEN:382718", source="MONDO:MEDGEN"}
is_a: MONDO:0008681 {source="MESH:C567292", source="Orphanet:893/btnt"} ! WAGR syndrome
is_a: MONDO:0015356 {source="MESH:C567292/inferred", source="MONDO:Redundant", source="NCIT:C122804"} ! hereditary neoplastic syndrome

[Term]
id: MONDO:0012914
name: chromosome 1q21.1 deletion syndrome
def: "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." [Orphanet:250989]
subset: gard_rare {source="GARD:10813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:250989"}
subset: ordo_malformation_syndrome {source="Orphanet:250989"}
subset: orphanet_rare {source="Orphanet:250989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1q21.1 microdeletion" RELATED [GARD:0010813]
synonym: "1q21.1 microdeletion syndrome" EXACT [DOID:0060411]
synonym: "1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)" EXACT [DECIPHER:62]
synonym: "chromosome 1q21.1 deletion syndrome, 1.35-MB" RELATED [OMIM:612474]
synonym: "chromosome 1q21.1 deletion syndrome, isolated cases" EXACT [OMIM:612474, OMIM:genemap2]
synonym: "chromosome 1q21.1 microdeletion syndrome" RELATED [GARD:0010813]
synonym: "Del(1)(q21)" EXACT [Orphanet:250989]
synonym: "monosomy 1q21.1" EXACT [DOID:0060411, Orphanet:250989]
xref: DECIPHER:62 {source="MONDO:equivalentTo"}
xref: DOID:0060411 {source="MONDO:equivalentTo"}
xref: GARD:10813 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="DOID:0060411", source="Orphanet:250989/attributed", source="Orphanet:250989/ntbt", source="Orphanet:250989"}
xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:393913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612474 {source="DOID:0060411", source="Orphanet:250989/e", source="MONDO:equivalentTo", source="Orphanet:250989"}
xref: Orphanet:250989 {source="OMIM:612474", source="DOID:0060411", source="MONDO:equivalentTo"}
xref: SCTID:699305004 {source="MONDO:equivalentTo"}
xref: UMLS:C2675897 {source="MEDGEN:393913", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:612474", source="DOID:0060411"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0022756 {source="Orphanet:250989"} ! chromosome 1q deletion
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1q21.1 ! 1q21.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012915
name: chromosome 1q21.1 duplication syndrome
def: "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual." [https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome]
subset: gard_rare {source="GARD:10591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:250994"}
subset: ordo_malformation_syndrome {source="Orphanet:250994"}
subset: orphanet_rare {source="Orphanet:250994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1q21.1 microduplication syndrome" EXACT [DOID:0060435]
synonym: "1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)" EXACT [DECIPHER:67]
synonym: "chromosome 1q21.1 duplication syndrome" EXACT [OMIM:612475]
synonym: "chromosome 1q21.1 duplication syndrome, isolated cases" EXACT [OMIM:612475, OMIM:genemap2]
synonym: "dup(1)(q21.1)" EXACT [Orphanet:250994]
synonym: "trisomy 1q21.1" EXACT [DOID:0060435, Orphanet:250994]
xref: DECIPHER:67 {source="MONDO:equivalentTo"}
xref: DOID:0060435 {source="MONDO:equivalentTo"}
xref: GARD:10591 {source="MONDO:GARD"}
xref: MEDGEN:382715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567290 {source="MONDO:equivalentTo"}
xref: OMIM:612475 {source="DOID:0060435", source="MONDO:equivalentTo", source="Orphanet:250994", source="Orphanet:250994/e"}
xref: Orphanet:250994 {source="OMIM:612475", source="DOID:0060435", source="MONDO:equivalentTo"}
xref: UMLS:C2675891 {source="MEDGEN:382715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DC-OMIM:612475", source="DOID:0060435"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016952 {source="Orphanet:250994"} ! partial duplication of the long arm of chromosome 1
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr1q21.1 ! 1q21.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome" xsd:anyURI {source="GARD:0010591"}

[Term]
id: MONDO:0012916
name: chromosome 2p16.1-p15 deletion syndrome
def: "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." [Orphanet:261349]
subset: gard_rare {source="GARD:13391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261349"}
subset: ordo_malformation_syndrome {source="Orphanet:261349"}
subset: orphanet_rare {source="Orphanet:261349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2p15-p16.1 microdeletion syndrome" EXACT [DOID:0060415, Orphanet:261349]
synonym: "2p15p16.1 microdeletion syndrome" EXACT [DOID:0060415]
synonym: "chromosome 2p16.1-p15 deletion syndrome" EXACT [OMIM:612513]
synonym: "chromosome 2p16.1-p15 deletion syndrome, isolated cases" EXACT [OMIM:612513, OMIM:genemap2]
synonym: "Del(2)(p15p16.1)" EXACT [Orphanet:261349]
synonym: "monosomy 2p15-p16.1" EXACT [Orphanet:261349]
synonym: "monosomy 2p15p16.1" EXACT [Orphanet:261349]
xref: DECIPHER:70 {source="MONDO:equivalentTo"}
xref: DOID:0060415 {source="MONDO:equivalentTo"}
xref: GARD:13391 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="DOID:0060415", source="Orphanet:261349/attributed", source="Orphanet:261349/ntbt", source="Orphanet:261349"}
xref: MEDGEN:390902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567289 {source="MONDO:equivalentTo"}
xref: OMIM:612513 {source="Orphanet:261349/e", source="MONDO:equivalentTo", source="DOID:0060415", source="Orphanet:261349"}
xref: Orphanet:261349 {source="MONDO:equivalentTo", source="OMIM:612513", source="DOID:0060415"}
xref: SCTID:719651000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675875 {source="MONDO:equivalentTo", source="MEDGEN:390902", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:612513", source="DOID:0060415"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016884 {source="Orphanet:261349"} ! partial deletion of the short arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2p16.1-p15 ! 2p16.1-p15 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012917
name: specific language impairment 4
synonym: "SLI4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612514]
synonym: "specific language impairment 4" EXACT [OMIM:612514]
xref: MEDGEN:393910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567288 {source="MONDO:equivalentTo"}
xref: OMIM:612514 {source="MONDO:equivalentTo"}
xref: UMLS:C2675874 {source="MEDGEN:393910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000724 {source="DC-OMIM:612514", source="OMIM:612514"} ! specific language impairment
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012918
name: primary ciliary dyskinesia 10
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD10" EXACT ABBREVIATION [DOID:0110612, MONDO:Lexical, OMIM:612518]
synonym: "ciliary dyskinesia, primary, 10" RELATED [MONDO:Lexical, OMIM:612518]
synonym: "ciliary dyskinesia, primary, 10, with or without situs inversus" RELATED [OMIM:612518]
synonym: "ciliary dyskinesia, primary, type 10" EXACT [MONDORULE:2, OMIM:612518]
synonym: "DNAAF2 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 10 with or without situs inversus" EXACT [DOID:0110612]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF2" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 10" EXACT [DOID:0110612, MONDORULE:2]
xref: DOID:0110612 {source="MONDO:equivalentTo"}
xref: GARD:15560 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110612"}
xref: MEDGEN:382707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567287 {source="MONDO:equivalentTo"}
xref: OMIM:612518 {source="DOID:0110612", source="MONDO:equivalentTo"}
xref: UMLS:C2675867 {source="MONDO:equivalentTo", source="MEDGEN:382707", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:612518", source="DOID:0110612", source="MESH:C567287", source="MONDO:Redundant", source="OMIM:612518"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20188 ! DNAAF2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20188 {source="MONDO:mim2gene_medgen"} ! DNAAF2

[Term]
id: MONDO:0012919
name: type 1 diabetes mellitus 20
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "diabetes mellitus, insulin-dependent, 20" RELATED [MONDO:Lexical, OMIM:612520]
synonym: "diabetes mellitus, insulin-dependent, type 20" EXACT [MONDORULE:2, OMIM:612520]
synonym: "HNF1A type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IDDM20" EXACT ABBREVIATION [DOID:0110757, MONDO:Lexical, OMIM:612520]
synonym: "insulin-dependent diabetes mellitus 20" EXACT [DOID:0110757]
synonym: "type 1 diabetes mellitus caused by mutation in HNF1A" EXACT [MONDO:design_pattern]
xref: DOID:0110757 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110757"}
xref: MEDGEN:382706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567286 {source="MONDO:equivalentTo"}
xref: OMIM:612520 {source="DOID:0110757", source="MONDO:equivalentTo"}
xref: UMLS:C2675866 {source="MEDGEN:382706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:612520"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 ! HNF1A
intersection_of: predisposes_towards MONDO:0005147 ! type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:612520", source="DOID:0110757", source="MESH:C567286", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 {source="MONDO:mim2gene_medgen"} ! HNF1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0012920
name: type 1 diabetes mellitus 21
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25." [DOID:0110758, MONDO:patterns/inherited_susceptibility, PMID:19073967]
synonym: "diabetes mellitus, insulin-dependent, 21" RELATED [MONDO:Lexical, OMIM:612521]
synonym: "IDDM21" EXACT ABBREVIATION [DOID:0110758, MONDO:Lexical, OMIM:612521]
synonym: "insulin-dependent diabetes mellitus 21" EXACT [DOID:0110758]
xref: DOID:0110758 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110758"}
xref: MEDGEN:436543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567285 {source="MONDO:equivalentTo"}
xref: OMIM:612521 {source="DOID:0110758", source="MONDO:equivalentTo"}
xref: UMLS:C2675865 {source="MEDGEN:436543", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:612521"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:612521", source="DOID:0110758", source="MESH:C567285", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:612521"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0012921
name: type 1 diabetes mellitus 22
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "CCR5 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "diabetes mellitus, insulin-dependent, 22" RELATED [MONDO:Lexical, OMIM:612522]
synonym: "diabetes mellitus, insulin-dependent, type 22" EXACT [MONDORULE:2, OMIM:612522]
synonym: "IDDM22" EXACT ABBREVIATION [DOID:0110759, MONDO:Lexical, OMIM:612522]
synonym: "insulin-dependent diabetes mellitus 22" EXACT [DOID:0110759]
synonym: "type 1 diabetes mellitus caused by mutation in CCR5" EXACT [MONDO:design_pattern]
xref: DOID:0110759 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110759"}
xref: MEDGEN:390900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567284 {source="MONDO:equivalentTo"}
xref: OMIM:612522 {source="MONDO:equivalentTo", source="DOID:0110759"}
xref: UMLS:C2675864 {source="MEDGEN:390900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:612522"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 {source="OMIM:612522"} ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1606 {source="OMIM:612522"} ! CCR5
intersection_of: predisposes_towards MONDO:0005147 {source="OMIM:612522"} ! type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:612522", source="DOID:0110759", source="MESH:C567284", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1606 {source="MONDO:mim2gene_medgen"} ! CCR5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0012922
name: pyloric stenosis, infantile hypertrophic, 5
synonym: "IHPS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612525]
synonym: "infantile hypertrophic pyloric stenosis type 5" EXACT [OMIM:612525]
synonym: "pyloric stenosis, infantile hypertrophic, 5" EXACT [MONDO:Lexical, OMIM:612525]
xref: MEDGEN:390899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567283 {source="MONDO:equivalentTo"}
xref: OMIM:612525 {source="MONDO:equivalentTo"}
xref: UMLS:C2675862 {source="MEDGEN:390899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100239 {source="DC-OMIM:612525", source="MESH:C567283", source="OMIM:612525"} ! inherited hypertrophic pyloric stenosis

[Term]
id: MONDO:0012923
name: congenital generalized lipodystrophy type 3
def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Berardinelli-Seip congenital lipodystrophy type 3" EXACT [DOID:0111137]
synonym: "Berardinelli-Seip congenital lipodystrophy, type 3" RELATED [OMIM:612526]
synonym: "BSCL3" EXACT ABBREVIATION [DOID:0111137]
synonym: "CAV1 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 []
synonym: "CAV1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CGL3" EXACT ABBREVIATION [DOID:0111137, MONDO:Lexical, OMIM:612526]
synonym: "congenital generalised lipodystrophy (disease) caused by mutation in CAV1" EXACT OMO:0003005 []
synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAV1" EXACT []
synonym: "lipodystrophy, Berardinelli-Seip congenital, type 3" RELATED [OMIM:612526]
synonym: "lipodystrophy, congenital generalized, type 3" RELATED [MONDO:Lexical, OMIM:612526]
synonym: "type 3 Berardinelli-Seip congenital lipodystrophy" RELATED [GARD:0013389]
xref: DOID:0111137 {source="MONDO:equivalentTo"}
xref: GARD:13389 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="DOID:0111137"}
xref: MEDGEN:436541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567282 {source="MONDO:equivalentTo"}
xref: OMIM:612526 {source="MONDO:equivalentTo", source="DOID:0111137"}
xref: Orphanet:528 {source="OMIM:612526"}
xref: UMLS:C2675861 {source="MEDGEN:436541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006536 {source="DC-OMIM:612526", source="DOID:0111137", source="MONDO:Redundant", source="OMIM:612526"} ! congenital generalized lipodystrophy
is_a: MONDO:0018883 {source="Orphanet:528/btnt"} ! Berardinelli-Seip congenital lipodystrophy
intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 ! CAV1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 {source="MONDO:mim2gene_medgen"} ! CAV1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3" xsd:anyURI {source="GARD:0013389"}

[Term]
id: MONDO:0012924
name: Diamond-Blackfan anemia 4
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15561", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612527]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPS17" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 4" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612527]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS17" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 4" EXACT [MONDORULE:1, OMIM:612527]
synonym: "RPS17 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPS17 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111890 {source="MONDO:equivalentTo"}
xref: GARD:15561 {source="MONDO:GARD"}
xref: MEDGEN:393906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567281 {source="MONDO:equivalentTo"}
xref: NCIT:C176913 {source="MONDO:equivalentTo"}
xref: OMIM:612527 {source="MONDO:equivalentTo"}
xref: UMLS:C2675860 {source="MEDGEN:393906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="DC-OMIM:612527", source="MESH:C567281", source="MONDO:Redundant", source="OMIM:612527"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10397 ! RPS17
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10397 {source="MONDO:mim2gene_medgen"} ! RPS17

[Term]
id: MONDO:0012925
name: Diamond-Blackfan anemia 5
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612528]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPL35A" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 5" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 5" EXACT [MONDO:Lexical, OMIM:612528]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL35A" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 5" EXACT [MONDORULE:1, OMIM:612528]
synonym: "RPL35A Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPL35A Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111883 {source="MONDO:equivalentTo"}
xref: GARD:15562 {source="MONDO:GARD"}
xref: MEDGEN:382705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567280 {source="MONDO:equivalentTo"}
xref: NCIT:C176914 {source="MONDO:equivalentTo"}
xref: OMIM:612528 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:612528"}
xref: UMLS:C2675859 {source="MEDGEN:382705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="DC-OMIM:612528", source="MESH:C567280", source="MONDO:Redundant", source="OMIM:612528"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10345 ! RPL35A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10345 {source="MONDO:mim2gene_medgen"} ! RPL35A

[Term]
id: MONDO:0012926
name: amelogenesis imperfecta hypomaturation type 2A2
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15563", source="MONDO:GARD"}
subset: rare
synonym: "AI2A2" EXACT ABBREVIATION [DOID:0110060, MONDO:Lexical, OMIM:612529]
synonym: "amelogenesis imperfecta caused by mutation in MMP20" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT [DOID:0110060]
synonym: "amelogenesis imperfecta pigmented hypomaturation type 2" EXACT [DOID:0110060]
synonym: "amelogenesis imperfecta type IIA2" EXACT [DOID:0110060]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA2" RELATED [MONDO:Lexical, OMIM:612529]
synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" RELATED [OMIM:612529]
synonym: "amelogenesis imperfecta, type IIA2" EXACT [OMIM:612529, OMIM:genemap2]
synonym: "MMP20 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110060 {source="MONDO:equivalentTo"}
xref: GARD:15563 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110060"}
xref: MEDGEN:436540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567279 {source="MONDO:equivalentTo"}
xref: OMIM:612529 {source="DOID:0110060", source="MONDO:equivalentTo"}
xref: Orphanet:100033 {source="OMIM:612529"}
xref: UMLS:C2675858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436540"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2
is_a: MONDO:0019507 {source="DOID:0110060", source="MESH:C567279", source="MONDO:Redundant", source="OMIM:612529"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7167 ! MMP20
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7167 {source="MONDO:mim2gene_medgen"} ! MMP20
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012927
name: chromosome 1q41-q42 deletion syndrome
def: "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." [Orphanet:250999]
subset: gard_rare {source="GARD:3738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:250999"}
subset: ordo_malformation_syndrome {source="Orphanet:250999"}
subset: orphanet_rare {source="Orphanet:250999"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1q41-q42 deletion syndrome" RELATED [GARD:0003738]
synonym: "1q41-q42 microdeletion syndrome" EXACT [DOID:0060412, Orphanet:250999]
synonym: "1q41q42 microdeletion syndrome" EXACT [DOID:0060412]
synonym: "chromosome 1q41-q42 deletion syndrome" EXACT [OMIM:612530]
synonym: "chromosome 1q41-q42 deletion syndrome, isolated cases" EXACT [OMIM:612530, OMIM:genemap2]
synonym: "Del(1)(q41q42)" EXACT [Orphanet:250999]
synonym: "deletion 1q41-q42" RELATED [GARD:0003738]
synonym: "holoprosencephaly 10" RELATED [OMIM:612530]
synonym: "monosomy 1q41-q42" EXACT [Orphanet:250999]
synonym: "monosomy 1q41q42" EXACT [Orphanet:250999]
xref: DOID:0060412 {source="MONDO:equivalentTo"}
xref: GARD:3738 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:250999/attributed", source="Orphanet:250999/ntbt", source="DOID:0060412", source="Orphanet:250999"}
xref: MEDGEN:382704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612530 {source="Orphanet:250999/e", source="MONDO:equivalentTo", source="DOID:0060412", source="Orphanet:250999"}
xref: Orphanet:2162 {source="OMIM:612530"}
xref: Orphanet:250999 {source="OMIM:612530", source="MONDO:equivalentTo", source="DOID:0060412"}
xref: SCTID:716515000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675857 {source="MEDGEN:382704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:612530", source="DOID:0060412"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016296 {source="DC-OMIM:612530", source="OMIM:612530"} ! holoprosencephaly
is_a: MONDO:0022756 {source="Orphanet:250999"} ! chromosome 1q deletion
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1q41-q42 ! 1q41-q42 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome" xsd:anyURI {source="GARD:0003738"}

[Term]
id: MONDO:0012928
name: hereditary spastic paraplegia 42
def: "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." [Orphanet:171863]
subset: gard_rare {source="GARD:17073", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171863"}
subset: orphanet_rare {source="Orphanet:171863"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant spastic paraplegia 42" EXACT [DOID:0110794]
synonym: "autosomal dominant spastic paraplegia type 42" EXACT [DOID:0110794]
synonym: "hereditary spastic paraplegia type 42" EXACT [DOID:0110794, MONDORULE:2]
synonym: "SLC33A1 autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 42, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612539]
synonym: "SPG42" EXACT ABBREVIATION [DOID:0110794, MONDO:Lexical, OMIM:612539, Orphanet:171863]
xref: DOID:0110794 {source="MONDO:equivalentTo"}
xref: GARD:17073 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:171863/attributed", source="Orphanet:171863/ntbt", source="DOID:0110794", source="Orphanet:171863"}
xref: MEDGEN:393407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567262 {source="MONDO:equivalentTo"}
xref: OMIM:612539 {source="Orphanet:171863/e", source="MONDO:equivalentTo", source="DOID:0110794", source="Orphanet:171863"}
xref: Orphanet:171863 {source="MONDO:equivalentTo", source="OMIM:612539", source="DOID:0110794"}
xref: SCTID:763070001 {source="MONDO:equivalentTo"}
xref: UMLS:C2675528 {source="MEDGEN:393407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110794", source="MESH:C567262", source="MONDO:Redundant", source="OMIM:612539", source="Orphanet:171863/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/95 {source="MONDO:mim2gene_medgen"} ! SLC33A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0012929
name: Compton-North congenital myopathy
subset: gard_rare {source="GARD:17111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210163"}
subset: orphanet_rare {source="Orphanet:210163"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Compton-North congenital myopathy" EXACT CLINGEN_LABEL []
synonym: "congenital lethal myopathy, Compton-North type" RELATED [Orphanet:210163]
synonym: "myopathy, congenital, Compton-NORTH" RELATED [MONDO:Lexical, OMIM:612540]
synonym: "MYPCN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612540]
xref: DOID:0080101 {source="MONDO:equivalentTo"}
xref: GARD:17111 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:210163/attributed", source="Orphanet:210163/ntbt", source="Orphanet:210163"}
xref: MEDGEN:393406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567261 {source="MONDO:equivalentTo"}
xref: OMIM:612540 {source="DOID:0080101", source="Orphanet:210163/e", source="MONDO:equivalentTo", source="Orphanet:210163"}
xref: Orphanet:210163 {source="OMIM:612540", source="MONDO:equivalentTo"}
xref: UMLS:C2675527 {source="MEDGEN:393406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="DC-OMIM:612540", source="DOID:0080101", source="Orphanet:210163"} ! congenital myopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2171 {source="MONDO:mim2gene_medgen"} ! CNTN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0012930
name: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
subset: gard_rare {source="GARD:17511", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:331176"}
subset: orphanet_rare {source="Orphanet:331176"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT CLINGEN_LABEL []
synonym: "Dursun syndrome" RELATED [OMIM:612541]
synonym: "neutropenia, severe congenital 4, autosomal recessive" EXACT [OMIM:612541, OMIM:genemap2]
synonym: "neutropenia, severe congenital, 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612541]
synonym: "pulmonary arterial hypertension, leukopenia, and atrial septal defect" RELATED [OMIM:612541]
synonym: "SCN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612541, Orphanet:331176]
synonym: "severe congenital neutropenia type 4" EXACT [Orphanet:331176]
synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [Orphanet:331176]
xref: DOID:0112136 {source="MONDO:equivalentTo"}
xref: GARD:17511 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:331176", source="Orphanet:331176/attributed", source="Orphanet:331176/ntbt"}
xref: MEDGEN:414066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612541 {source="Orphanet:331176", source="MONDO:equivalentTo", source="Orphanet:331176/e"}
xref: Orphanet:178503 {source="OMIM:612541"}
xref: Orphanet:331176 {source="OMIM:612541", source="MONDO:equivalentTo"}
xref: UMLS:C2751630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414066"}
is_a: MONDO:0018542 {source="DC-OMIM:612541", source="OMIM:612541", source="Orphanet:331176", source="Orphanet:331176/inferred"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24861 ! G6PC3
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24861 {source="MONDO:mim2gene_medgen"} ! G6PC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012931
name: focal segmental glomerulosclerosis 4, susceptibility to
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: predisposition
synonym: "APOL1 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "end-stage renal disease, nondiabetic, susceptibility to" RELATED [OMIM:612551]
synonym: "focal segmental glomerulosclerosis 4, susceptibility to" EXACT [MONDO:Lexical, OMIM:612551]
synonym: "focal segmental glomerulosclerosis caused by mutation in APOL1" EXACT [MONDO:design_pattern]
synonym: "FSGS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612551]
synonym: "glomerulosclerosis, focal segmental, 4, susceptibility to" EXACT [OMIM:612551, OMIM:genemap2]
synonym: "susceptibility to focal segmental glomerulosclerosis 4" RELATED [OMIM:612551]
xref: MEDGEN:390820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612551 {source="MONDO:equivalentTo"}
xref: UMLS:C2675525 {source="MEDGEN:390820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/618 ! APOL1
intersection_of: predisposes_towards MONDO:0005363 ! inherited focal segmental glomerulosclerosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/618 {source="MONDO:mim2gene_medgen"} ! APOL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012932
name: myopia 16, autosomal dominant
synonym: "myopia 16" EXACT [OMIM:612554, OMIM:genemap2]
synonym: "myopia 16, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612554]
synonym: "MYP16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612554]
xref: MEDGEN:390819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567259 {source="MONDO:equivalentTo"}
xref: OMIM:612554 {source="MONDO:equivalentTo"}
xref: UMLS:C2675523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390819"}
is_a: MONDO:0001384 {source="DC-OMIM:612554", source="MESH:C567259", source="OMIM:612554"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012933
name: breast-ovarian cancer, familial, susceptibility to, 2
def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: predisposition
synonym: "BRCA2 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "breast cancer, familial, susceptibility to, 2" RELATED [OMIM:612555]
synonym: "breast-ovarian cancer, familial, 2" EXACT [OMIM:612555, OMIM:genemap2]
synonym: "breast-ovarian cancer, familial, susceptibility to, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612555]
synonym: "breast-ovarian cancer, familial, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612555]
synonym: "BROVCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612555]
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2" EXACT [MONDO:design_pattern]
synonym: "ovarian cancer, familial, susceptibility to, 2" RELATED [OMIM:612555]
synonym: "susceptibility to familial breast-ovarian cancer 2" RELATED [OMIM:612555]
xref: MEDGEN:382625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612555 {source="MONDO:equivalentTo"}
xref: Orphanet:145 {source="OMIM:612555"}
xref: Orphanet:227535 {source="OMIM:612555"}
xref: UMLS:C2675520 {source="MEDGEN:382625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100526 {source="OMIM:612555"} ! breast-ovarian cancer, familial, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 ! BRCA2
intersection_of: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome
relationship: excluded_subClassOf MONDO:0003582 {source="OMIM:612555", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast ovarian cancer syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:612555"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen"} ! BRCA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012934
name: leukemia, chronic lymphocytic, susceptibility to, 3
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "Clls3" RELATED [OMIM:612557]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 3" EXACT [OMIM:612557]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612557]
xref: MEDGEN:382621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612557 {source="MONDO:equivalentTo"}
xref: Orphanet:67038 {source="OMIM:612557"}
xref: UMLS:C2675516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382621"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="https://orcid.org/0000-0002-6601-2165"} ! B-cell chronic lymphocytic leukemia

[Term]
id: MONDO:0012935
name: leukemia, chronic lymphocytic, susceptibility to, 4
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "Clls4" RELATED [OMIM:612558]
synonym: "leukemia, chronic lymphocytic susceptibility to, 4" EXACT [OMIM:612558, OMIM:genemap2]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 4" EXACT [OMIM:612558]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612558]
xref: MEDGEN:382620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612558 {source="MONDO:equivalentTo"}
xref: Orphanet:67038 {source="OMIM:612558"}
xref: UMLS:C2675515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382620"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="https://orcid.org/0000-0002-6601-2165"} ! B-cell chronic lymphocytic leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012936
name: leukemia, chronic lymphocytic, susceptibility to, 5
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "Clls5" RELATED [OMIM:612559]
synonym: "leukemia, chronic lymphocytic susceptibility to, 5" EXACT [OMIM:612559, OMIM:genemap2]
synonym: "leukemia, chronic lymphocytic, susceptibility to, 5" EXACT [OMIM:612559]
synonym: "leukemia, chronic lymphocytic, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612559]
xref: MEDGEN:436452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612559 {source="MONDO:equivalentTo"}
xref: Orphanet:67038 {source="OMIM:612559"}
xref: UMLS:C2675514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436452"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004948 {source="https://orcid.org/0000-0002-6601-2165"} ! B-cell chronic lymphocytic leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012937
name: Diamond-Blackfan anemia 6
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Aase-Smith syndrome 2" RELATED [OMIM:612561]
synonym: "DBA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612561]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPL5" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 6" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 6" EXACT [MONDO:Lexical, OMIM:612561]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL5" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 6" EXACT [MONDORULE:1, OMIM:612561]
synonym: "RPL5 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPL5 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111879 {source="MONDO:equivalentTo"}
xref: GARD:15568 {source="MONDO:GARD"}
xref: MEDGEN:419918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176915 {source="MONDO:equivalentTo"}
xref: OMIM:612561 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:612561"}
xref: UMLS:C2931850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419918"}
is_a: MONDO:0015253 {source="DC-OMIM:612561", source="MONDO:Redundant", source="OMIM:612561"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10360 ! RPL5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10360 {source="MONDO:mim2gene_medgen"} ! RPL5

[Term]
id: MONDO:0012938
name: Diamond-Blackfan anemia 7
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612562]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPL11" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 7" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 7" EXACT [MONDO:Lexical, OMIM:612562]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL11" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 7" EXACT [MONDORULE:1, OMIM:612562]
synonym: "RPL11 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPL11 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111878 {source="MONDO:equivalentTo"}
xref: GARD:15569 {source="MONDO:GARD"}
xref: MEDGEN:436451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567254 {source="MONDO:equivalentTo"}
xref: NCIT:C176916 {source="MONDO:equivalentTo"}
xref: OMIM:612562 {source="MONDO:equivalentTo"}
xref: UMLS:C2675512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436451"}
is_a: MONDO:0015253 {source="DC-OMIM:612562", source="MESH:C567254", source="MONDO:Redundant", source="OMIM:612562"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10301 ! RPL11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10301 {source="MONDO:mim2gene_medgen"} ! RPL11

[Term]
id: MONDO:0012939
name: Diamond-Blackfan anemia 8
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612563]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPS7" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 8" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 8" EXACT [MONDO:Lexical, OMIM:612563]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS7" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 8" EXACT [MONDORULE:1, OMIM:612563]
synonym: "RPS7 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPS7 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111881 {source="MONDO:equivalentTo"}
xref: GARD:15570 {source="MONDO:GARD"}
xref: MEDGEN:390817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567253 {source="MONDO:equivalentTo"}
xref: NCIT:C176917 {source="MONDO:equivalentTo"}
xref: OMIM:612563 {source="MONDO:equivalentTo"}
xref: UMLS:C2675511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390817"}
is_a: MONDO:0015253 {source="DC-OMIM:612563", source="MESH:C567253", source="MONDO:Redundant", source="OMIM:612563"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10440 ! RPS7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10440 {source="MONDO:mim2gene_medgen"} ! RPS7

[Term]
id: MONDO:0012940
name: inflammatory bowel disease 24
def: "An inflammatory bowel disease that has material basis in variation in the chromosome 20q13." [DOID:0110908, PMID:18758464]
synonym: "IBD24" EXACT ABBREVIATION [DOID:0110908, MONDO:Lexical, OMIM:612566]
synonym: "inflammatory bowel disease 24" EXACT [MONDO:Lexical, OMIM:612566]
synonym: "inflammatory bowel disease type 24" EXACT [DOID:0110908, MONDORULE:2]
xref: DOID:0110908 {source="MONDO:equivalentTo"}
xref: MEDGEN:393404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567252 {source="MONDO:equivalentTo"}
xref: OMIM:612566 {source="MONDO:equivalentTo", source="DOID:0110908"}
xref: Orphanet:206 {source="OMIM:612566"}
xref: Orphanet:771 {source="OMIM:612566"}
xref: UMLS:C2675509 {source="MEDGEN:393404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DC-OMIM:612566", source="DOID:0110908", source="MESH:C567252", source="OMIM:612566"} ! inflammatory bowel disease

[Term]
id: MONDO:0012941
name: inflammatory bowel disease 25
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [DOID:0110909]
synonym: "IBD25" EXACT ABBREVIATION [DOID:0110909, MONDO:Lexical, OMIM:612567]
synonym: "IL10RB inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory bowel disease 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612567]
synonym: "inflammatory bowel disease 25, early onset, autosomal recessive" EXACT [OMIM:612567, OMIM:genemap2]
synonym: "inflammatory bowel disease caused by mutation in IL10RB" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 25" EXACT [DOID:0110909, MONDORULE:2]
synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:612567]
xref: DOID:0110909 {source="MONDO:equivalentTo"}
xref: GARD:18342 {source="MONDO:GARD"}
xref: MEDGEN:393403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567251 {source="MONDO:equivalentTo"}
xref: NANDO:2200448 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612567 {source="MONDO:equivalentTo", source="DOID:0110909"}
xref: Orphanet:238569 {source="OMIM:612567"}
xref: UMLS:C2675508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393403"}
is_a: MONDO:0005265 {source="DOID:0110909", source="MESH:C567251", source="MONDO:Redundant", source="OMIM:612567"} ! inflammatory bowel disease
is_a: MONDO:0016542 {source="Orphanet:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5965 ! IL10RB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5965 {source="MONDO:mim2gene_medgen"} ! IL10RB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012942
name: lung cancer susceptibility 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenocarcinoma of lung, susceptibility to" RELATED [OMIM:612571]
synonym: "LNCR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612571]
synonym: "lung cancer susceptibility 3" EXACT [MONDO:Lexical, OMIM:612571]
xref: MEDGEN:382615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612571 {source="MONDO:equivalentTo"}
xref: UMLS:C2675497 {source="MEDGEN:382615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:612571", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0008903 {source="DC-OMIM:612571", source="https://orcid.org/0000-0001-5208-3432"} ! lung cancer
relationship: predisposes_towards MONDO:0008903 {source="OMIM:612571"} ! lung cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012943
name: retinitis pigmentosa 46
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IDH3B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 46" EXACT [MONDO:Lexical, OMIM:612572]
synonym: "retinitis pigmentosa caused by mutation in IDH3B" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 46" EXACT [DOID:0110409, MONDORULE:2, OMIM:612572]
synonym: "retinitis pigmentosa, autosomal recessive, Idh3B-related" RELATED [OMIM:612572]
synonym: "RP46" EXACT ABBREVIATION [DOID:0110409, MONDO:Lexical, OMIM:612572]
xref: DOID:0110409 {source="MONDO:equivalentTo"}
xref: GARD:15571 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110409"}
xref: MEDGEN:382614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567249 {source="MONDO:equivalentTo"}
xref: OMIM:612572 {source="MONDO:equivalentTo", source="DOID:0110409"}
xref: Orphanet:791 {source="OMIM:612572"}
xref: UMLS:C2675496 {source="MEDGEN:382614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:612572", source="DOID:0110409", source="MESH:C567249", source="MONDO:Redundant", source="OMIM:612572"} ! retinitis pigmentosa
is_a: MONDO:0800393 {source="https://clinicalgenome.org/affiliation/40072/"} ! IDH3B-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5385 ! IDH3B
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5385 {source="MONDO:mim2gene_medgen"} ! IDH3B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0012944
name: chromosome 17P13.3, telomeric, duplication syndrome
subset: gard_rare {source="GARD:15572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 17P13.3, telomeric, duplication syndrome" EXACT [OMIM:612576]
synonym: "split-hand/foot malformation with long bone deficiency 3" RELATED [OMIM:612576]
xref: GARD:15572 {source="MONDO:GARD"}
xref: MEDGEN:390813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567245 {source="MONDO:equivalentTo"}
xref: OMIM:612576 {source="MONDO:equivalentTo"}
xref: Orphanet:3329 {source="OMIM:612576"}
xref: UMLS:C2675492 {source="MEDGEN:390813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018050 {source="Orphanet:3329/btnt"} ! tibial aplasia-ectrodactyly syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0012945
name: amyotrophic lateral sclerosis type 11
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS11" EXACT ABBREVIATION [DOID:0060202, MONDO:Lexical, OMIM:612577]
synonym: "amyotrophic lateral sclerosis 11" EXACT [DOID:0060202, MONDO:Lexical, OMIM:612577]
synonym: "amyotrophic lateral sclerosis caused by mutation in FIG4" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 11" EXACT [MONDORULE:2, OMIM:612577]
synonym: "FIG4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060202 {source="MONDO:equivalentTo"}
xref: GARD:10496 {source="MONDO:GARD"}
xref: MEDGEN:393399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567244 {source="MONDO:equivalentTo"}
xref: OMIM:612577 {source="DOID:0060202", source="MONDO:equivalentTo"}
xref: Orphanet:803 {source="OMIM:612577"}
xref: UMLS:C2675491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393399"}
is_a: MONDO:0005144 {source="DOID:0060202", source="MESH:C567244", source="MONDO:Redundant", source="OMIM:612577"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 ! FIG4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 {source="MONDO:mim2gene_medgen"} ! FIG4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10496/amyotrophic-lateral-sclerosis-type-11" xsd:anyURI {source="GARD:0010496"}

[Term]
id: MONDO:0012946
name: intellectual disability, autosomal dominant 3
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16454", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 3" EXACT [DOID:0070033]
synonym: "autosomal dominant mental retardation 3" EXACT DEPRECATED [DOID:0070033]
synonym: "autosomal dominant non-syndromic intellectual disability 3" RELATED [DOID:0070033]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15" EXACT [MONDO:design_pattern]
synonym: "CDH15 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612580]
synonym: "intellectual disability, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:612580]
synonym: "mental retardation, autosomal dominant 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:612580]
synonym: "mental retardation, autosomal dominant type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:612580]
synonym: "MRD3" EXACT ABBREVIATION [DOID:0070033, MONDO:Lexical, OMIM:612580]
xref: DOID:0070033 {source="MONDO:equivalentTo"}
xref: GARD:16454 {source="MONDO:GARD"}
xref: MEDGEN:436447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567241 {source="MONDO:equivalentTo"}
xref: OMIM:612580 {source="DOID:0070033", source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="OMIM:612580"}
xref: UMLS:C2675488 {source="MEDGEN:436447", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:612580"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1754 ! CDH15
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1754 {source="MONDO:mim2gene_medgen"} ! CDH15

[Term]
id: MONDO:0012947
name: intellectual disability, autosomal dominant 4
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16455", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 4" EXACT [DOID:0070034]
synonym: "autosomal dominant mental retardation 4" EXACT DEPRECATED [DOID:0070034]
synonym: "autosomal dominant non-syndromic intellectual disability 4" RELATED [DOID:0070034]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal dominant 4" EXACT [MONDO:Lexical, OMIM:612581]
synonym: "intellectual disability, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:612581]
synonym: "KIRREL3 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:612581]
synonym: "mental retardation, autosomal dominant type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:612581]
synonym: "MRD4" EXACT ABBREVIATION [DOID:0070034, MONDO:Lexical, OMIM:612581]
xref: DOID:0070034 {source="MONDO:equivalentTo"}
xref: GARD:16455 {source="MONDO:GARD"}
xref: MEDGEN:393397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567240 {source="MONDO:equivalentTo"}
xref: OMIM:612581 {source="DOID:0070034", source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="OMIM:612581"}
xref: UMLS:C2675487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393397"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:612581"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23204 ! KIRREL3
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23204 {source="MONDO:mim2gene_medgen"} ! KIRREL3

[Term]
id: MONDO:0012948
name: chromosome 6pter-p24 deletion syndrome
def: "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." [Orphanet:96125]
subset: gard_rare {source="GARD:16845", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96125"}
subset: ordo_malformation_syndrome {source="Orphanet:96125"}
subset: orphanet_rare {source="Orphanet:96125"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "6p subtelomeric deletion syndrome" EXACT [DOID:0060422, Orphanet:96125]
synonym: "6p25 microdeletion syndrome" EXACT [DOID:0060422, Orphanet:96125]
synonym: "chromosome 6pter-p24 deletion syndrome" EXACT [OMIM:612582]
synonym: "chromosome 6pter-p24 deletion syndrome, isolated cases" EXACT [OMIM:612582, OMIM:genemap2]
synonym: "distal deletion 6p" EXACT [Orphanet:96125]
synonym: "distal monosomy 6p" EXACT [DOID:0060422]
synonym: "distal monosomy type 6p" EXACT [MONDORULE:4, Orphanet:96125]
synonym: "monosomy 6p25" EXACT [Orphanet:96125]
xref: DOID:0060422 {source="MONDO:equivalentTo"}
xref: GARD:16845 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96125", source="Orphanet:96125/attributed", source="Orphanet:96125/ntbt", source="DOID:0060422"}
xref: MEDGEN:393396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567239 {source="MONDO:equivalentTo"}
xref: OMIM:612582 {source="Orphanet:96125", source="DOID:0060422", source="MONDO:equivalentTo", source="Orphanet:96125/e"}
xref: Orphanet:96125 {source="DOID:0060422", source="MONDO:equivalentTo", source="OMIM:612582"}
xref: SCTID:718688008 {source="MONDO:equivalentTo"}
xref: UMLS:C2675486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393396"}
is_a: MONDO:0000761 {source="DC-OMIM:612582", source="DOID:0060422"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0011119 {source="Orphanet:96125"} ! iridogoniodysgenesis
is_a: MONDO:0015159 {source="Orphanet:96125"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016888 {source="Orphanet:96125"} ! partial deletion of the short arm of chromosome 6
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr6pter-p24 ! 6pter-p24 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:96125", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0012949
name: aneurysm, intracranial berry, 9
subset: gard_rare {source="GARD:18327", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 9" RELATED [MONDO:Lexical, OMIM:612586]
synonym: "ANIB9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612586]
xref: DOID:0080972 {source="MONDO:equivalentTo"}
xref: GARD:18327 {source="MONDO:GARD"}
xref: MEDGEN:393395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567238 {source="MONDO:equivalentTo"}
xref: OMIM:612586 {source="MONDO:equivalentTo"}
xref: UMLS:C2675485 {source="MEDGEN:393395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016483 {source="DC-OMIM:612586", source="OMIM:612586"} ! intracranial berry aneurysm

[Term]
id: MONDO:0012950
name: aneurysm, intracranial berry, 10
subset: gard_rare {source="GARD:18328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 10" RELATED [MONDO:Lexical, OMIM:612587]
synonym: "ANIB10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612587]
xref: DOID:0080973 {source="MONDO:equivalentTo"}
xref: GARD:18328 {source="MONDO:GARD"}
xref: MEDGEN:390811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567237 {source="MONDO:equivalentTo"}
xref: OMIM:612587 {source="MONDO:equivalentTo"}
xref: UMLS:C2675484 {source="MEDGEN:390811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016483 {source="DC-OMIM:612587", source="OMIM:612587"} ! intracranial berry aneurysm

[Term]
id: MONDO:0012951
name: colorectal cancer, susceptibility to, 8
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal cancer, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612589]
synonym: "colorectal cancer, susceptibility to, on chromosome 14Q" RELATED [OMIM:612589]
synonym: "CRCS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612589]
xref: MEDGEN:436446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612589 {source="MONDO:equivalentTo"}
xref: UMLS:C2675483 {source="MEDGEN:436446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="DC-OMIM:612589", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005575 {source="DC-OMIM:612589", source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
relationship: predisposes_towards MONDO:0005575 {source="DC-OMIM:612589"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012952
name: colorectal cancer, susceptibility to, 9
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal cancer, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:612590]
synonym: "colorectal cancer, susceptibility to, on chromosome 16Q" RELATED [OMIM:612590]
synonym: "CRCS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612590]
xref: MEDGEN:390810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612590 {source="MONDO:equivalentTo"}
xref: UMLS:C2675482 {source="MEDGEN:390810", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="DC-OMIM:612590", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005575 {source="DC-OMIM:612590", source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
relationship: predisposes_towards MONDO:0005575 {source="DC-OMIM:612590"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012953
name: colorectal cancer, susceptibility to, 10
def: "Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "colorectal cancer caused by mutation in POLD1" EXACT [MONDO:design_pattern]
synonym: "colorectal cancer, susceptibility to, 10" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612591]
synonym: "colorectal cancer, susceptibility to, on chromosome 19Q" RELATED [OMIM:612591]
synonym: "colorectal cancer, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:612591]
synonym: "CRCS10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612591]
synonym: "POLD1 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to colorectal cancer 10" RELATED [OMIM:612591]
xref: MEDGEN:436445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612591 {source="MONDO:equivalentTo"}
xref: UMLS:C2675481 {source="MEDGEN:436445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9175 ! POLD1
intersection_of: predisposes_towards MONDO:0005575 ! colorectal cancer
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9175 {source="MONDO:mim2gene_medgen"} ! POLD1

[Term]
id: MONDO:0012954
name: colorectal cancer, susceptibility to, 11
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "colorectal cancer, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:612592]
synonym: "colorectal cancer, susceptibility to, on chromosome 20P" RELATED [OMIM:612592]
synonym: "CRCS11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612592]
xref: MEDGEN:390809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612592 {source="MONDO:equivalentTo"}
xref: UMLS:C2675480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390809"}
is_a: MONDO:0020573 {source="DC-OMIM:612592", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005575 {source="DC-OMIM:612592", source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
relationship: predisposes_towards MONDO:0005575 {source="DC-OMIM:612592"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012955
name: lung cancer susceptibility 4
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "LNCR4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612593]
synonym: "lung cancer susceptibility 4" EXACT [MONDO:Lexical, OMIM:612593]
xref: MEDGEN:390808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612593 {source="MONDO:equivalentTo"}
xref: UMLS:C2675479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390808"}
is_a: MONDO:0020573 {source="OMIM:612593", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0008903 {source="DC-OMIM:612593", source="https://orcid.org/0000-0001-5208-3432"} ! lung cancer
relationship: predisposes_towards MONDO:0008903 {source="OMIM:612593"} ! lung cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012956
name: multiple sclerosis, susceptibility to, 2
subset: predisposition
synonym: "MS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612594]
synonym: "multiple sclerosis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612594]
xref: MEDGEN:436444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612594 {source="MONDO:equivalentTo"}
xref: Orphanet:802 {source="OMIM:612594"}
xref: UMLS:C2675478 {source="MEDGEN:436444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007462 {source="OMIM:612594"} ! multiple sclerosis, susceptibility to
relationship: excluded_subClassOf MONDO:0005301 {source="DC-OMIM:612594", source="https://orcid.org/0000-0001-5208-3432"} ! multiple sclerosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012957
name: multiple sclerosis, susceptibility to, 3
subset: predisposition
synonym: "MS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612595]
synonym: "multiple sclerosis, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612595]
xref: MEDGEN:390807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612595 {source="MONDO:equivalentTo"}
xref: Orphanet:802 {source="OMIM:612595"}
xref: UMLS:C2675477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390807"}
is_a: MONDO:0007462 {source="OMIM:612595"} ! multiple sclerosis, susceptibility to
relationship: excluded_subClassOf MONDO:0005301 {source="DC-OMIM:61259", source="https://orcid.org/0000-0001-5208-3432"} ! multiple sclerosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012958
name: multiple sclerosis, susceptibility to, 4
subset: predisposition
synonym: "MS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612596]
synonym: "multiple sclerosis, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:612596]
xref: MEDGEN:436443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612596 {source="MONDO:equivalentTo"}
xref: Orphanet:802 {source="OMIM:612596"}
xref: UMLS:C2675476 {source="MEDGEN:436443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007462 {source="OMIM:612596"} ! multiple sclerosis, susceptibility to
relationship: excluded_subClassOf MONDO:0005301 {source="DC-OMIM:612596", source="https://orcid.org/0000-0001-5208-3432"} ! multiple sclerosis
relationship: predisposes_towards MONDO:0005301 ! multiple sclerosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012959
name: psoriasis 11, susceptibility to
synonym: "psoriasis 11, susceptibility to" EXACT [MONDO:Lexical, OMIM:612599]
synonym: "psoriasis susceptibility 11" EXACT [OMIM:612599, OMIM:genemap2]
synonym: "PSORS11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612599]
xref: DOID:0111285 {source="MONDO:equivalentTo"}
xref: MEDGEN:382613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612599 {source="MONDO:equivalentTo"}
xref: UMLS:C2675475 {source="MEDGEN:382613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:612599"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:612599", source="OMIM:612599"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0012960
name: intellectual disability, autosomal dominant 5
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12558", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 5" EXACT [DOID:0070035]
synonym: "autosomal dominant mental retardation 5" EXACT DEPRECATED [DOID:0070035]
synonym: "autosomal dominant non-syndromic intellectual disability 5" RELATED [DOID:0070035]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal dominant 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612621]
synonym: "intellectual disability, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:612621]
synonym: "mental retardation, autosomal dominant 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:612621]
synonym: "mental retardation, autosomal dominant type 5" EXACT DEPRECATED [MONDORULE:1, OMIM:612621]
synonym: "MRD5" EXACT ABBREVIATION [DOID:0070035, MONDO:Lexical, OMIM:612621]
synonym: "SYNGAP1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism" RELATED [GARD:0012558]
synonym: "SYNGAP1 syndrome" RELATED [GARD:0012558]
synonym: "SYNGAP1-related non-syndromic intellectual disability" RELATED [GARD:0012558]
synonym: "SYNGAP1-related NSID" RELATED [GARD:0012558]
xref: DOID:0070035 {source="MONDO:equivalentTo"}
xref: GARD:12558 {source="MONDO:GARD"}
xref: MEDGEN:382611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567234 {source="MONDO:equivalentTo"}
xref: OMIM:612621 {source="DOID:0070035", source="MONDO:equivalentTo"}
xref: UMLS:C2675473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382611"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:612621"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11497 ! SYNGAP1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11497 {source="MONDO:mim2gene_medgen"} ! SYNGAP1

[Term]
id: MONDO:0012961
name: type 1 diabetes mellitus 23
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27." [DOID:0110760, MONDO:patterns/inherited_susceptibility, PMID:8072542]
synonym: "diabetes mellitus, insulin-dependent, 23" RELATED [MONDO:Lexical, OMIM:612622]
synonym: "IDDM23" EXACT ABBREVIATION [DOID:0110760, MONDO:Lexical, OMIM:612622]
synonym: "insulin-dependent diabetes mellitus 23" EXACT [DOID:0110760]
xref: DOID:0110760 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110760"}
xref: MEDGEN:382610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567233 {source="MONDO:equivalentTo"}
xref: OMIM:612622 {source="MONDO:equivalentTo", source="DOID:0110760"}
xref: UMLS:C2675472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382610"}
is_a: MONDO:0020573 {source="OMIM:612622"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:612622", source="DOID:0110760", source="MESH:C567233", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:612622"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0012962
name: microvascular complications of diabetes, susceptibility to, 2
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:612623]
synonym: "EPO microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microvascular complications of diabetes 2" EXACT [OMIM:612623, OMIM:genemap2]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in EPO" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612623]
synonym: "microvascular complications of diabetes, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612623]
synonym: "MVCD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612623]
synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612623]
xref: MEDGEN:436442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612623 {source="MONDO:equivalentTo"}
xref: UMLS:C2675471 {source="MEDGEN:436442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000065 {source="DC-OMIM:612623", source="MONDO:Redundant", source="OMIM:612623"} ! microvascular complications of diabetes, susceptibility
intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3415 ! EPO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3415 {source="MONDO:mim2gene_medgen"} ! EPO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012963
name: microvascular complications of diabetes, susceptibility to, 3
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ACE microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:612624]
synonym: "microvascular complications of diabetes 3" EXACT [OMIM:612624, OMIM:genemap2]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in ACE" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612624]
synonym: "microvascular complications of diabetes, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612624]
synonym: "MVCD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612624]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612624]
xref: MEDGEN:390806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612624 {source="MONDO:equivalentTo"}
xref: UMLS:C2675470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390806"}
is_a: MONDO:0000065 {source="DC-OMIM:612624", source="MONDO:Redundant", source="OMIM:612624"} ! microvascular complications of diabetes, susceptibility
intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2707 ! ACE
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2707 {source="MONDO:mim2gene_medgen"} ! ACE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012964
name: chromosome 15q26-qter deletion syndrome
def: "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported." [Orphanet:1596]
subset: gard_rare {source="GARD:16572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1596"}
subset: ordo_malformation_syndrome {source="Orphanet:1596"}
subset: orphanet_rare {source="Orphanet:1596"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "15q26 deletion syndrome" EXACT [DOID:0060397, Orphanet:1596]
synonym: "chromosome 15q26-qter deletion syndrome" EXACT [OMIM:612626]
synonym: "chromosome 15q26-qter deletion syndrome, isolated cases" EXACT [OMIM:612626, OMIM:genemap2]
synonym: "distal 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596]
synonym: "distal monosomy 15q" EXACT [DOID:0060397]
synonym: "distal monosomy type 15q" EXACT [MONDORULE:4, Orphanet:1596]
synonym: "Drayer syndrome" EXACT [DOID:0060397, OMIM:612626]
synonym: "monosomy 15q26" EXACT [Orphanet:1596]
synonym: "telomeric 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596]
xref: DOID:0060397 {source="MONDO:equivalentTo"}
xref: GARD:16572 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1596", source="DOID:0060397", source="Orphanet:1596/attributed", source="Orphanet:1596/ntbt"}
xref: MEDGEN:390804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567232 {source="DOID:0060397", source="MONDO:equivalentTo"}
xref: OMIM:612626 {source="Orphanet:1596", source="DOID:0060397", source="MONDO:equivalentTo", source="Orphanet:1596/e"}
xref: Orphanet:1596 {source="DOID:0060397", source="MONDO:equivalentTo", source="OMIM:612626"}
xref: SCTID:766050000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675463 {source="MEDGEN:390804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:612626", source="DOID:0060397"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016913 {source="Orphanet:1596"} ! partial deletion of the long arm of chromosome 15
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr15q26-qter ! 15q26-qter (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012965
name: seizures, benign familial infantile, 4
subset: gard_rare {source="GARD:16505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BFIS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612627]
synonym: "convulsions, benign familial infantile, 4" RELATED [OMIM:612627]
synonym: "seizures, benign familial infantile, 4" EXACT [MONDO:Lexical, OMIM:612627]
xref: DOID:0081117 {source="MONDO:equivalentTo"}
xref: GARD:16505 {source="MONDO:GARD"}
xref: MEDGEN:436440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567231 {source="MONDO:equivalentTo"}
xref: OMIM:612627 {source="MONDO:equivalentTo"}
xref: Orphanet:306 {source="OMIM:612627"}
xref: UMLS:C2675462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436440"}
is_a: MONDO:0017615 {source="DC-OMIM:612627", source="OMIM:612627"} ! benign familial infantile epilepsy

[Term]
id: MONDO:0012966
name: microvascular complications of diabetes, susceptibility to, 4
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "IL1RN microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microvascular complications of diabetes 4" EXACT [OMIM:612628, OMIM:genemap2]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in IL1RN" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:612628]
synonym: "microvascular complications of diabetes, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612628]
synonym: "MVCD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612628]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612628]
xref: MEDGEN:382527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612628 {source="MONDO:equivalentTo"}
xref: UMLS:C2675112 {source="MEDGEN:382527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000065 {source="DC-OMIM:612628", source="MONDO:Redundant", source="OMIM:612628"} ! microvascular complications of diabetes, susceptibility
intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6000 ! IL1RN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6000 {source="MONDO:mim2gene_medgen"} ! IL1RN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012967
name: hemolytic anemia due to adenylate kinase deficiency
def: "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." [Orphanet:86817]
subset: gard_rare {source="GARD:16760", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86817"}
subset: orphanet_rare {source="Orphanet:86817"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADENYLATE KINASE deficiency, hemolytic anaemia due to" RELATED OMO:0003005 []
synonym: "ADENYLATE KINASE deficiency, hemolytic anemia due to" RELATED [OMIM:612631]
xref: GARD:16760 {source="MONDO:GARD"}
xref: ICD10CM:D55.3 {source="Orphanet:86817/attributed", source="Orphanet:86817/ntbt", source="Orphanet:86817"}
xref: MEDGEN:390802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567228 {source="MONDO:equivalentTo"}
xref: OMIM:612631 {source="Orphanet:86817/e", source="MONDO:equivalentTo", source="Orphanet:86817"}
xref: Orphanet:86817 {source="OMIM:612631", source="MONDO:equivalentTo"}
xref: SCTID:766982000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675459 {source="MEDGEN:390802", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="Orphanet:86817"} ! hemolytic anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/361 {source="MONDO:mim2gene_medgen"} ! AK1

[Term]
id: MONDO:0012968
name: Usher syndrome type 1H
def: "An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23." [DOID:0110835, PMID:18505454]
subset: gard_rare {source="GARD:15573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH1H" EXACT ABBREVIATION [DOID:0110835, MONDO:Lexical, OMIM:612632]
synonym: "Usher syndrome type IH" EXACT [DOID:0110835]
synonym: "Usher syndrome, type 1H" EXACT [OMIM:612632, OMIM:genemap2]
synonym: "USHER syndrome, type IH" RELATED [MONDO:Lexical, OMIM:612632]
xref: DOID:0110835 {source="MONDO:equivalentTo"}
xref: GARD:15573 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110835"}
xref: MEDGEN:393392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567227 {source="MONDO:equivalentTo"}
xref: OMIM:612632 {source="DOID:0110835", source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="OMIM:612632"}
xref: Orphanet:886 {source="OMIM:612632"}
xref: UMLS:C2675458 {source="MEDGEN:393392", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
is_a: MONDO:0019501 {source="DOID:0110835/inferred", source="MESH:C567227", source="MONDO:Redundant", source="OMIM:612632"} ! Usher syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012969
name: microvascular complications of diabetes, susceptibility to, 5
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "microvascular complications of diabetes 5" EXACT [OMIM:612633, OMIM:genemap2]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in PON1" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612633]
synonym: "microvascular complications of diabetes, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612633]
synonym: "MVCD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612633]
synonym: "PON1 microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinopathy, diabetic, susceptibility to" RELATED [OMIM:612633]
xref: MEDGEN:436225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612633 {source="MONDO:equivalentTo"}
xref: UMLS:C2674665 {source="MEDGEN:436225", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000065 {source="DC-OMIM:612633", source="MONDO:Redundant", source="OMIM:612633"} ! microvascular complications of diabetes, susceptibility
intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9204 ! PON1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9204 {source="MONDO:mim2gene_medgen"} ! PON1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012970
name: microvascular complications of diabetes, susceptibility to, 6
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "microvascular complications of diabetes 6" EXACT [OMIM:612634, OMIM:genemap2]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in SOD2" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:612634]
synonym: "microvascular complications of diabetes, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612634]
synonym: "MVCD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612634]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612634]
synonym: "SOD2 microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:382533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612634 {source="MONDO:equivalentTo"}
xref: UMLS:C2675128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382533"}
is_a: MONDO:0000065 {source="DC-OMIM:612634", source="MONDO:Redundant", source="OMIM:612634"} ! microvascular complications of diabetes, susceptibility
intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11180 ! SOD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11180 {source="MONDO:mim2gene_medgen"} ! SOD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012971
name: microvascular complications of diabetes, susceptibility to, 7
def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "HFE microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microvascular complications of diabetes 7" EXACT [OMIM:612635, OMIM:genemap2]
synonym: "microvascular complications of diabetes, susceptibility caused by mutation in HFE" EXACT [MONDO:design_pattern]
synonym: "microvascular complications of diabetes, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612635]
synonym: "microvascular complications of diabetes, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:612635]
synonym: "MVCD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612635]
synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612635]
synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612635]
synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612635]
xref: MEDGEN:382123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612635 {source="MONDO:equivalentTo"}
xref: UMLS:C2673520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382123"}
is_a: MONDO:0000065 {source="DC-OMIM:612635", source="MONDO:Redundant", source="OMIM:612635"} ! microvascular complications of diabetes, susceptibility
intersection_of: MONDO:0000065 ! microvascular complications of diabetes, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4886 ! HFE
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4886 {source="MONDO:mim2gene_medgen"} ! HFE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0012972
name: febrile seizures, familial, 10
synonym: "convulsions, familial febrile, 10" RELATED [OMIM:612637]
synonym: "FEB10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612637]
synonym: "febrile seizures, familial, 10" EXACT [MONDO:Lexical, OMIM:612637]
xref: DOID:0111304 {source="MONDO:equivalentTo"}
xref: MEDGEN:390747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567218 {source="MONDO:equivalentTo"}
xref: OMIM:612637 {source="MONDO:equivalentTo"}
xref: UMLS:C2675251 {source="MEDGEN:390747", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000032 {source="DC-OMIM:612637", source="OMIM:612637"} ! febrile seizures, familial
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease

[Term]
id: MONDO:0012973
name: inflammatory bowel disease 26
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15." [DOID:0110901, PMID:19122664]
synonym: "IBD26" EXACT ABBREVIATION [DOID:0110901, MONDO:Lexical, OMIM:612639]
synonym: "inflammatory bowel disease 26" EXACT [MONDO:Lexical, OMIM:612639]
synonym: "inflammatory bowel disease type 26" EXACT [DOID:0110901, MONDORULE:2]
xref: DOID:0110901 {source="MONDO:equivalentTo"}
xref: MEDGEN:382561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567217 {source="MONDO:equivalentTo"}
xref: OMIM:612639 {source="DOID:0110901", source="MONDO:equivalentTo"}
xref: Orphanet:206 {source="OMIM:612639"}
xref: Orphanet:771 {source="OMIM:612639"}
xref: UMLS:C2675249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382561"}
is_a: MONDO:0005265 {source="DC-OMIM:612639", source="DOID:0110901", source="MESH:C567217", source="OMIM:612639"} ! inflammatory bowel disease

[Term]
id: MONDO:0012974
name: autosomal dominant nonsyndromic hearing loss 59
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3." [DOID:0110583, PMID:19030898]
subset: gard_rare {source="GARD:18129", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 59" NARROW [DOID:0110583]
synonym: "autosomal dominant nonsyndromic deafness 59" NARROW [OMIM:612642]
synonym: "autosomal dominant nonsyndromic deafness type 59" NARROW [DOID:0110583, MONDORULE:2]
synonym: "deafness, autosomal dominant 59" NARROW [MONDO:Lexical, OMIM:612642, OMIM:genemap2]
synonym: "DFNA59" NARROW ABBREVIATION [DOID:0110583, MONDO:Lexical, OMIM:612642]
xref: DOID:0110583 {source="MONDO:equivalentTo"}
xref: GARD:18129 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110583"}
xref: MEDGEN:390743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567216 {source="MONDO:equivalentTo"}
xref: OMIM:612642 {source="MONDO:equivalentTo", source="DOID:0110583"}
xref: UMLS:C2675238 {source="MEDGEN:390743", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:612642", source="DOID:0110583", source="OMIM:612642"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012975
name: autosomal dominant nonsyndromic hearing loss 3B
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18130", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 3B" NARROW [DOID:0110565]
synonym: "autosomal dominant nonsyndromic deafness 3B" NARROW [OMIM:612643]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB6" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 3B" NARROW [DOID:0110565, MONDORULE:4]
synonym: "deafness, autosomal dominant 3B" NARROW [MONDO:Lexical, OMIM:612643]
synonym: "deafness, autosomal dominant 3b" NARROW [OMIM:612643, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 3B" NARROW [MONDORULE:4, OMIM:612643]
synonym: "DFNA3B" NARROW ABBREVIATION [DOID:0110565, MONDO:Lexical, OMIM:612643]
synonym: "GJB6 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110565 {source="MONDO:equivalentTo"}
xref: GARD:18130 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110565"}
xref: MEDGEN:436382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567215 {source="MONDO:equivalentTo"}
xref: OMIM:612643 {source="MONDO:equivalentTo", source="DOID:0110565"}
xref: UMLS:C2675237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436382"}
is_a: MONDO:0019587 {source="DC-OMIM:612643", source="DOID:0110565", source="MONDO:Redundant", source="OMIM:612643"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 ! GJB6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 {source="MONDO:mim2gene_medgen"} ! GJB6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012976
name: autosomal dominant nonsyndromic hearing loss 2B
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18131", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 2B" NARROW [DOID:0110559]
synonym: "autosomal dominant nonsyndromic deafness 2B" NARROW [OMIM:612644]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB3" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 2B" NARROW [DOID:0110559, MONDORULE:4]
synonym: "deafness, autosomal dominant 2B" NARROW [MONDO:Lexical, OMIM:612644]
synonym: "deafness, autosomal dominant 2b" NARROW [OMIM:612644, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 2B" NARROW [MONDORULE:4, OMIM:612644]
synonym: "DFNA2B" NARROW ABBREVIATION [DOID:0110559, MONDO:Lexical, OMIM:612644]
synonym: "GJB3 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110559 {source="MONDO:equivalentTo"}
xref: GARD:18131 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110559"}
xref: MEDGEN:390742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567214 {source="MONDO:equivalentTo"}
xref: OMIM:612644 {source="DOID:0110559", source="MONDO:equivalentTo"}
xref: UMLS:C2675236 {source="MEDGEN:390742", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:612644", source="DOID:0110559", source="MONDO:Redundant", source="OMIM:612644"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4285 ! GJB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4285 {source="MONDO:mim2gene_medgen"} ! GJB3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012977
name: autosomal recessive nonsyndromic hearing loss 1B
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 1B" NARROW [DOID:0110476]
synonym: "Autosomal recessive deafness type 1B" NARROW [GTR:AN1075764]
synonym: "autosomal recessive nonsyndromic deafness 1B" NARROW [OMIM:612645]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GJB6" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 1B" NARROW [DOID:0110476, MONDORULE:4]
synonym: "deafness, autosomal recessive 1B" NARROW [MONDO:Lexical, OMIM:612645]
synonym: "deafness, autosomal recessive 1b" NARROW [OMIM:612645, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 1B" NARROW [MONDORULE:4, OMIM:612645]
synonym: "DFNB1B" NARROW ABBREVIATION [DOID:0110476, MONDO:Lexical, OMIM:612645]
synonym: "GJB6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110476 {source="MONDO:equivalentTo"}
xref: GARD:22629 {source="MONDO:GARD"}
xref: GTR:AN1075764
xref: ICD10CM:H90.3 {source="DOID:0110476"}
xref: MEDGEN:436381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567213 {source="MONDO:equivalentTo"}
xref: OMIM:612645 {source="MONDO:equivalentTo", source="DOID:0110476"}
xref: UMLS:C2675235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436381"}
is_a: MONDO:0019588 {source="DC-OMIM:612645", source="DOID:0110476", source="MONDO:Redundant", source="OMIM:612645"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 ! GJB6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 {source="MONDO:mim2gene_medgen"} ! GJB6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0012978
name: primary ciliary dyskinesia 11
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15574", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD11" EXACT ABBREVIATION [DOID:0110602, MONDO:Lexical, OMIM:612649]
synonym: "ciliary dyskinesia, primary, 11" RELATED [MONDO:Lexical, OMIM:612649]
synonym: "ciliary dyskinesia, primary, 11, without situs inversus" RELATED [OMIM:612649]
synonym: "ciliary dyskinesia, primary, type 11" EXACT [MONDORULE:2, OMIM:612649]
synonym: "primary ciliary dyskinesia 11" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 11 without situs inversus" EXACT [DOID:0110602]
synonym: "primary ciliary dyskinesia caused by mutation in RSPH4A" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 11" EXACT [DOID:0110602, MONDORULE:2]
synonym: "RSPH4A primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110602 {source="MONDO:equivalentTo"}
xref: GARD:15574 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110602"}
xref: MEDGEN:390741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567212 {source="MONDO:equivalentTo"}
xref: OMIM:612649 {source="DOID:0110602", source="MONDO:equivalentTo"}
xref: UMLS:C2675229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390741"}
is_a: MONDO:0016575 {source="DC-OMIM:612649", source="DOID:0110602", source="MESH:C567212", source="MONDO:Redundant", source="OMIM:612649"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21558 ! RSPH4A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21558 {source="MONDO:mim2gene_medgen"} ! RSPH4A

[Term]
id: MONDO:0012979
name: primary ciliary dyskinesia 12
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15575", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD12" EXACT ABBREVIATION [DOID:0110601, MONDO:Lexical, OMIM:612650]
synonym: "ciliary dyskinesia, primary, 12" RELATED [MONDO:Lexical, OMIM:612650]
synonym: "ciliary dyskinesia, primary, 12, without situs inversus" RELATED [OMIM:612650]
synonym: "ciliary dyskinesia, primary, type 12" EXACT [MONDORULE:2, OMIM:612650]
synonym: "primary ciliary dyskinesia 12 without situs inversus" EXACT [DOID:0110601]
synonym: "primary ciliary dyskinesia caused by mutation in RSPH9" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 12" EXACT [DOID:0110601, MONDORULE:2]
synonym: "RSPH9 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110601 {source="MONDO:equivalentTo"}
xref: GARD:15575 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110601"}
xref: MEDGEN:436379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567211 {source="MONDO:equivalentTo"}
xref: OMIM:612650 {source="DOID:0110601", source="MONDO:equivalentTo"}
xref: UMLS:C2675228 {source="MEDGEN:436379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:612650", source="DOID:0110601", source="MESH:C567211", source="MONDO:Redundant", source="OMIM:612650"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21057 ! RSPH9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21057 {source="MONDO:mim2gene_medgen"} ! RSPH9

[Term]
id: MONDO:0012980
name: endocrine-cerebro-osteodysplasia syndrome
def: "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." [Orphanet:199332]
subset: gard_rare {source="GARD:17094", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199332"}
subset: ordo_malformation_syndrome {source="Orphanet:199332"}
subset: orphanet_rare {source="Orphanet:199332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ECO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612651]
synonym: "ECO syndrome" EXACT [DOID:0060641, Orphanet:199332]
synonym: "endocrine-CEREBROOSTEODYSPLASIA" RELATED [MONDO:Lexical, OMIM:612651]
xref: DOID:0060641 {source="MONDO:equivalentTo"}
xref: GARD:17094 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:199332", source="Orphanet:199332/attributed", source="Orphanet:199332/ntbt", source="DOID:0060641"}
xref: MEDGEN:390740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567210 {source="MONDO:equivalentTo"}
xref: OMIM:612651 {source="Orphanet:199332", source="DOID:0060641", source="MONDO:equivalentTo", source="Orphanet:199332/e"}
xref: Orphanet:199332 {source="OMIM:612651", source="DOID:0060641", source="MONDO:equivalentTo"}
xref: SCTID:723309006 {source="MONDO:equivalentTo"}
xref: UMLS:C2675227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390740"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:199332"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21219 {source="MONDO:mim2gene_medgen"} ! CILK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0012981
name: hereditary spherocytosis type 4
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15576", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary spherocytosis 4" EXACT [DOID:0110919]
synonym: "hereditary spherocytosis caused by mutation in SLC4A1" EXACT [MONDO:design_pattern]
synonym: "HS4" EXACT ABBREVIATION [DOID:0110919]
synonym: "SLC4A1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SPH4" EXACT ABBREVIATION [DOID:0110919, MONDO:Lexical, OMIM:612653]
synonym: "spherocytosis, hereditary, 4" RELATED [OMIM:612653]
synonym: "spherocytosis, type 4" RELATED [MONDO:Lexical, OMIM:612653]
xref: DOID:0110919 {source="MONDO:equivalentTo"}
xref: GARD:15576 {source="MONDO:GARD"}
xref: MEDGEN:436375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567208 {source="MONDO:equivalentTo"}
xref: OMIM:612653 {source="MONDO:equivalentTo", source="DOID:0110919"}
xref: Orphanet:822 {source="OMIM:612653"}
xref: UMLS:C2675212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436375"}
is_a: MONDO:0019350 {source="DOID:0110919", source="MESH:C567208", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
intersection_of: MONDO:0019350 ! hereditary spherocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 ! SLC4A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1

[Term]
id: MONDO:0012982
name: episodic ataxia type 6
def: "Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." [Orphanet:209967]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17107", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209967"}
subset: orphanet_rare {source="Orphanet:209967"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612656]
synonym: "episodic ataxia type 6" EXACT CLINGEN_LABEL []
synonym: "episodic ataxia, type 6" RELATED [MONDO:Lexical, OMIM:612656]
synonym: "hereditary episodic ataxia caused by mutation in SLC1A3" EXACT [MONDO:design_pattern]
synonym: "SLC1A3 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0050994 {source="MONDO:equivalentTo"}
xref: GARD:17107 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:209967", source="Orphanet:209967/attributed", source="Orphanet:209967/ntbt"}
xref: MEDGEN:390739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567207 {source="MONDO:equivalentTo"}
xref: OMIM:612656 {source="Orphanet:209967", source="DOID:0050994", source="MONDO:equivalentTo", source="Orphanet:209967/e"}
xref: Orphanet:209967 {source="MONDO:equivalentTo", source="OMIM:612656"}
xref: SCTID:718753002 {source="MONDO:equivalentTo"}
xref: UMLS:C2675211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390739"}
is_a: MONDO:0016227 {source="DOID:0050994", source="MONDO:Redundant", source="OMIM:612656", source="Orphanet:209967"} ! hereditary episodic ataxia
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
intersection_of: MONDO:0016227 ! hereditary episodic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10941 ! SLC1A3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10941 {source="MONDO:mim2gene_medgen"} ! SLC1A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0012983
name: cone-rod dystrophy 12
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 12" EXACT [MONDO:Lexical, OMIM:612657]
synonym: "cone-rod dystrophy caused by mutation in PROM1" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 12" EXACT [DOID:0111019, MONDORULE:2, OMIM:612657]
synonym: "CORD12" EXACT ABBREVIATION [DOID:0111019, MONDO:Lexical, OMIM:612657]
synonym: "PROM1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111019 {source="MONDO:equivalentTo"}
xref: GARD:15577 {source="MONDO:GARD"}
xref: MEDGEN:393334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567206 {source="MONDO:equivalentTo"}
xref: OMIM:612657 {source="DOID:0111019", source="MONDO:equivalentTo"}
xref: UMLS:C2675210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393334"}
is_a: MONDO:0015993 {source="DC-OMIM:612657", source="DOID:0111019", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 ! PROM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1

[Term]
id: MONDO:0012984
name: PHARC syndrome
def: "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." [Orphanet:171848]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171848"}
subset: orphanet_rare {source="Orphanet:171848"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peripheral neuropathy, Fiskerstrand type" EXACT [Orphanet:171848]
synonym: "PHARC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612674]
synonym: "PHARC syndrome" EXACT CLINGEN_LABEL [Orphanet:171848]
synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" RELATED [MONDO:Lexical, OMIM:612674]
synonym: "polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" RELATED [Orphanet:171848]
synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [DOID:0080181]
xref: DOID:0080181 {source="MONDO:equivalentTo"}
xref: GARD:17071 {source="MONDO:GARD"}
xref: MEDGEN:436373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567203 {source="MONDO:equivalentTo"}
xref: OMIM:612674 {source="Orphanet:171848", source="MONDO:equivalentTo", source="Orphanet:171848/e", source="DOID:0080181"}
xref: Orphanet:171848 {source="OMIM:612674", source="MONDO:equivalentTo", source="DOID:0080181"}
xref: SCTID:723452007 {source="MONDO:equivalentTo"}
xref: UMLS:C2675204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436373"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0080181", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612674", source="Orphanet:171848"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15868 {source="MONDO:mim2gene_medgen"} ! ABHD12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0012985
name: hereditary spherocytosis type 5
def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EPB42 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spherocytosis 5" EXACT [DOID:0110920]
synonym: "hereditary spherocytosis caused by mutation in EPB42" EXACT [MONDO:design_pattern]
synonym: "hereditary spherocytosis type 5" EXACT CLINGEN_LABEL []
synonym: "HS5" EXACT ABBREVIATION [DOID:0110920]
synonym: "SPH5" EXACT ABBREVIATION [DOID:0110920, MONDO:Lexical, OMIM:612690]
synonym: "spherocytosis, hereditary, 5" RELATED [OMIM:612690]
synonym: "spherocytosis, type 5" RELATED [MONDO:Lexical, OMIM:612690]
xref: DOID:0110920 {source="MONDO:equivalentTo"}
xref: GARD:15578 {source="MONDO:GARD"}
xref: MEDGEN:436371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567202 {source="MONDO:equivalentTo"}
xref: OMIM:612690 {source="DOID:0110920", source="MONDO:equivalentTo"}
xref: Orphanet:822 {source="OMIM:612690"}
xref: UMLS:C2675192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436371"}
is_a: MONDO:0019350 {source="DOID:0110920", source="MESH:C567202", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary spherocytosis
intersection_of: MONDO:0019350 ! hereditary spherocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3381 ! EPB42
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3381 {source="MONDO:mim2gene_medgen"} ! EPB42

[Term]
id: MONDO:0012986
name: bilateral parasagittal parieto-occipital polymicrogyria
subset: gard_rare {source="GARD:10785", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:208441"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BTOP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612691]
synonym: "polymicrogyria, bilateral temporooccipital" RELATED [MONDO:Lexical, OMIM:612691]
xref: DOID:0080923 {source="MONDO:equivalentTo"}
xref: GARD:10785 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:208441", source="Orphanet:208441/attributed", source="Orphanet:208441/ntbt"}
xref: MEDGEN:862085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567201 {source="MONDO:equivalentTo"}
xref: OMIM:612691 {source="MONDO:equivalentTo", source="Orphanet:208441", source="Orphanet:208441/e"}
xref: Orphanet:208441 {source="MONDO:equivalentTo", source="OMIM:612691"}
xref: Orphanet:268940 {source="OMIM:612691"}
xref: UMLS:C4013648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862085"}
is_a: MONDO:0017091 {source="Orphanet:208441"} ! bilateral polymicrogyria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16873 {source="MONDO:mim2gene_medgen"} ! FIG4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria" xsd:anyURI {source="GARD:0010785"}

[Term]
id: MONDO:0012987
name: agammaglobulinemia 6, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia 6, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612692]
synonym: "agammaglobulinemia, autosomal recessive, due to Cd79B defect" RELATED [OMIM:612692]
synonym: "AGM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612692]
synonym: "autosomal agammaglobulinemia caused by mutation in CD79B" EXACT [MONDO:design_pattern]
synonym: "CD79B autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081138 {source="MONDO:equivalentTo"}
xref: GARD:15579 {source="MONDO:GARD"}
xref: MEDGEN:461557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612692 {source="MONDO:equivalentTo"}
xref: Orphanet:229717 {source="OMIM:612692"}
xref: Orphanet:33110 {source="OMIM:612692"}
xref: UMLS:C3150207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461557"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia
is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:612692"} ! agammaglobulinemia
intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1699 ! CD79B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1699 {source="MONDO:mim2gene_medgen"} ! CD79B

[Term]
id: MONDO:0012988
name: hypogonadotropic hypogonadism 6 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10774", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FGF8 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612702]
synonym: "hypogonadotropic hypogonadism 6 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612702]
synonym: "hypogonadotropic hypogonadism caused by mutation in FGF8" EXACT [MONDO:design_pattern]
synonym: "KAL6" NARROW ABBREVIATION [GARD:0010774]
synonym: "Kallmann syndrome 6" RELATED [GARD:0010774]
xref: DOID:0090086 {source="MONDO:equivalentTo"}
xref: GARD:10774 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="DOID:0090086", source="MONDO:relatedTo"}
xref: MEDGEN:765488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567199 {source="MONDO:equivalentTo"}
xref: OMIM:612702 {source="DOID:0090086", source="MONDO:equivalentTo", source="GARD:0010774"}
xref: UMLS:C3552574 {source="MEDGEN:765488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090086", source="MONDO:0012988/inferred", source="MONDO:Redundant", source="OMIM:612702"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="MESH:C567199", source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3686 ! FGF8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3686 {source="MONDO:mim2gene_medgen"} ! FGF8
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6" xsd:anyURI {source="GARD:0010774"}

[Term]
id: MONDO:0012989
name: microcephaly 7, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in STIL" EXACT [MONDO:design_pattern]
synonym: "MCPH7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612703]
synonym: "microcephaly 7, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612703]
synonym: "STIL autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070278 {source="MONDO:equivalentTo"}
xref: GARD:15580 {source="MONDO:GARD"}
xref: MEDGEN:436370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567198 {source="MONDO:equivalentTo"}
xref: OMIM:612703 {source="MONDO:equivalentTo"}
xref: Orphanet:2512 {source="OMIM:612703"}
xref: UMLS:C2675187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436370"}
is_a: MONDO:0016660 {source="DC-OMIM:612703", source="MONDO:Redundant", source="OMIM:612703"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10879 ! STIL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10879 {source="MONDO:mim2gene_medgen"} ! STIL

[Term]
id: MONDO:0012990
name: Leber congenital amaurosis 13
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LCA13" EXACT ABBREVIATION [DOID:0110330, MONDO:Lexical, OMIM:612712]
synonym: "Leber congenital amaurosis 13" EXACT [MONDO:Lexical, OMIM:612712]
synonym: "Leber congenital amaurosis caused by mutation in RDH12" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 13" EXACT [DOID:0110330, MONDORULE:2, OMIM:612712]
synonym: "RDH12 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 53" RELATED [OMIM:612712]
xref: DOID:0110330 {source="MONDO:equivalentTo"}
xref: GARD:10882 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110330"}
xref: MEDGEN:382544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567197 {source="MONDO:equivalentTo"}
xref: OMIM:612712 {source="MONDO:equivalentTo", source="DOID:0110330"}
xref: UMLS:C2675186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382544"}
is_a: MONDO:0018998 {source="DC-OMIM:612712", source="DOID:0110330", source="MESH:C567197", source="MONDO:Redundant", source="OMIM:612712"} ! Leber congenital amaurosis
is_a: MONDO:0800099 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH12-related recessive retinopathy
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19977 ! RDH12
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19977 {source="MONDO:mim2gene_medgen"} ! RDH12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10882/leber-congenital-amaurosis-13" xsd:anyURI {source="GARD:0010882"}

[Term]
id: MONDO:0012991
name: Kahrizi syndrome
def: "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene." [DOID:0050807, OMIM:612713, Orphanet:168972]
subset: otar {source="MONDO:OTAR"}
synonym: "intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive" RELATED [OMIM:612713]
synonym: "Kahrizi syndrome" EXACT [MONDO:Lexical, OMIM:612713]
synonym: "KHRZ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612713]
synonym: "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" RELATED DEPRECATED [OMIM:612713]
xref: DOID:0050807 {source="MONDO:equivalentTo"}
xref: MEDGEN:382543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567196 {source="MONDO:equivalentTo"}
xref: OMIM:612713 {source="MONDO:equivalentTo", source="DOID:0050807"}
xref: Orphanet:168972 {source="MONDO:equivalentObsolete", source="OMIM:612713"}
xref: UMLS:C2675185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382543"}
is_a: MONDO:0006025 {source="DOID:0050807"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612713"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25812 {source="MONDO:mim2gene_medgen"} ! SRD5A3

[Term]
id: MONDO:0012992
name: pancreatic insufficiency-anemia-hyperostosis syndrome
def: "This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis." [Orphanet:199337]
subset: gard_rare {source="GARD:17095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199337"}
subset: orphanet_rare {source="Orphanet:199337"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" RELATED [OMIM:612714]
synonym: "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome" EXACT []
xref: GARD:17095 {source="MONDO:GARD"}
xref: MEDGEN:436369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567195 {source="MONDO:equivalentTo"}
xref: OMIM:612714 {source="MONDO:equivalentTo", source="Orphanet:199337", source="Orphanet:199337/e"}
xref: Orphanet:199337 {source="MONDO:equivalentTo", source="OMIM:612714"}
xref: SCTID:722207000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675184 {source="MEDGEN:436369", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001684 {source="MESH:C567195"} ! exocrine pancreatic insufficiency
is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:199337"} ! pancreas disorder
is_a: MONDO:0009068 ! cytochrome-c oxidase deficiency disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia
is_a: MONDO:0019403 {source="MESH:C567195"} ! congenital dyserythropoietic anemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16232 {source="MONDO:mim2gene_medgen"} ! COX4I2

[Term]
id: MONDO:0012993
name: dyschromatosis universalis hereditaria 2
subset: gard_rare {source="GARD:15581", source="MONDO:GARD"}
subset: rare
synonym: "DUH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612715]
synonym: "dyschromatosis universalis hereditaria 2" EXACT [MONDO:Lexical, OMIM:612715]
xref: GARD:15581 {source="MONDO:GARD"}
xref: MEDGEN:382542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567194 {source="MONDO:equivalentTo"}
xref: OMIM:612715 {source="MONDO:equivalentTo"}
xref: Orphanet:241 {source="OMIM:612715"}
xref: UMLS:C2675183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382542"}
is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:612715", source="Orphanet:241/btnt"} ! dyschromatosis universalis hereditaria

[Term]
id: MONDO:0012994
name: dopa-responsive dystonia due to sepiapterin reductase deficiency
def: "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." [Orphanet:70594]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1885"}
subset: ordo_disorder {source="Orphanet:70594"}
subset: orphanet_rare {source="Orphanet:70594"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive sepiapterin reductase-deficient DRD" EXACT [Orphanet:70594]
synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT CLINGEN_LABEL [DOID:0111168]
synonym: "DRD due to SRD" EXACT [DOID:0111168, Orphanet:70594]
synonym: "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency" RELATED [OMIM:612716]
synonym: "DYT-SPR" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK304122/]
synonym: "Sepiapterin Reductase Deficiency" EXACT [NORD:1885]
synonym: "sepiapterin reductase deficiency" EXACT [Orphanet:70594]
synonym: "SPR deficiency" EXACT [DOID:0111168, OMIM:612716, Orphanet:70594]
synonym: "SRD" EXACT ABBREVIATION [DOID:0111168]
xref: DOID:0111168 {source="MONDO:equivalentTo"}
xref: GARD:10365 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:70594", source="Orphanet:70594/attributed", source="Orphanet:70594/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562657 {source="MONDO:equivalentTo"}
xref: NANDO:1200982 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1885 {source="MONDO:NORD"}
xref: OMIM:612716 {source="Orphanet:70594", source="MONDO:equivalentTo", source="Orphanet:70594/e", source="DOID:0111168"}
xref: Orphanet:70594 {source="MONDO:equivalentTo", source="DOID:0111168", source="OMIM:612716"}
xref: SCTID:45116002 {source="MONDO:equivalentTo", source="DOID:0111168"}
xref: UMLS:C0268468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120642"}
is_a: MONDO:0016812 {source="MONDO:Redundant", source="Orphanet:70594"} ! dopa-responsive dystonia
is_a: MONDO:0044807 {source="DOID:0111168", source="MONDO:indirect"} ! inherited dystonia
intersection_of: MONDO:0016812 ! dopa-responsive dystonia
intersection_of: disease_has_basis_in_disruption_of GO:0004757 ! sepiapterin reductase (NADP+) activity
relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11257 {source="MONDO:mim2gene_medgen"} ! SPR

[Term]
id: MONDO:0012995
name: myopia 15, autosomal dominant
synonym: "myopia 15, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612717]
synonym: "MYP15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612717]
xref: MEDGEN:393323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567193 {source="MONDO:equivalentTo"}
xref: OMIM:612717 {source="MONDO:equivalentTo"}
xref: UMLS:C2675180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393323"}
is_a: MONDO:0001384 {source="DC-OMIM:612717", source="MESH:C567193", source="OMIM:612717"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012996
name: AGAT deficiency
def: "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." [Orphanet:35704]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10323", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:35704"}
subset: orphanet_rare {source="Orphanet:35704"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGAT deficiency" EXACT CLINGEN_LABEL [OMIM:612718, Orphanet:35704]
synonym: "arginine:glycine amidinotransferase deficiency" EXACT [DOID:0050712, OMIM:612718]
synonym: "CCDS3" EXACT ABBREVIATION [OMIM:612718]
synonym: "cerebral creatine deficiency syndrome 3" EXACT [DOID:0050712, MONDO:Lexical, OMIM:612718]
synonym: "cerebral creatine deficiency syndrome type 3" EXACT [MONDORULE:1, OMIM:612718]
synonym: "creatine deficiency syndrome due to AGAT deficiency" EXACT [OMIM:612718]
synonym: "disorder of glycine amidinotransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "GATM deficiency" EXACT [OMIM:612718]
synonym: "glycine amidinotransferase activity disease" EXACT [MONDO:design_pattern]
synonym: "L-arginine:glycine amidinotransferase deficiency" EXACT [Orphanet:35704]
xref: DOID:0050712 {source="MONDO:equivalentTo"}
xref: GARD:10323 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:35704/attributed", source="Orphanet:35704/ntbt", source="Orphanet:35704"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:436367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567192 {source="MONDO:equivalentTo"}
xref: NANDO:1201033 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201299 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612718 {source="Orphanet:35704", source="MONDO:equivalentTo", source="DOID:0050712", source="Orphanet:35704/e"}
xref: Orphanet:35704 {source="MONDO:equivalentTo", source="OMIM:612718"}
xref: SCTID:702440000 {source="MONDO:equivalentTo"}
xref: UMLS:C2675179 {source="MEDGEN:436367", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000456 {source="DOID:0050712", source="OMIM:612718", source="Orphanet:35704"} ! cerebral creatine deficiency syndrome
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0015068 ! glycine amidinotransferase activity
relationship: disease_has_basis_in_disruption_of GO:0006601 ! creatine biosynthetic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4175 {source="MONDO:mim2gene_medgen"} ! GATM

[Term]
id: MONDO:0012997
name: cholestasis-pigmentary retinopathy-cleft palate syndrome
def: "Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated." [Orphanet:1415]
subset: gard_rare {source="GARD:9280", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1415"}
subset: ordo_malformation_syndrome {source="Orphanet:1415"}
subset: orphanet_rare {source="Orphanet:1415"}
subset: rare
synonym: "HARDIKAR syndrome" RELATED [OMIM:612726]
synonym: "Hardikar syndrome" EXACT [Orphanet:1415]
xref: GARD:9280 {source="MONDO:GARD"}
xref: MEDGEN:208652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535632 {source="MONDO:equivalentTo"}
xref: OMIM:301068 {source="MONDO:equivalentTo"}
xref: OMIM:612726 {source="MONDO:equivalentObsolete", source="Orphanet:1415", source="Orphanet:1415/e"}
xref: Orphanet:1415 {source="MONDO:equivalentTo", source="OMIM:612726"}
xref: SCTID:720636001 {source="MONDO:equivalentTo"}
xref: UMLS:C0795969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208652"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012998
name: faciocardiomelic syndrome
synonym: "faciocardiomelic syndrome" EXACT [OMIM:612731]
xref: MEDGEN:436265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567176 {source="MONDO:equivalentTo"}
xref: OMIM:612731 {source="MONDO:equivalentTo"}
xref: UMLS:C2674798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436265"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0012999
name: guanidinoacetate methyltransferase deficiency
def: "A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." [https://orcid.org/0000-0001-5208-3432, Orphanet:382]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1967"}
subset: ordo_disorder {source="Orphanet:382"}
subset: orphanet_rare {source="Orphanet:382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612736]
synonym: "cerebral creatine deficiency syndrome 2" EXACT [DOID:0050799, MONDO:Lexical, OMIM:612736]
synonym: "cerebral creatine deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612736]
synonym: "creatine deficiency syndrome due to GAMT deficiency" RELATED [OMIM:612736]
synonym: "disorder of guanidinoacetate N-methyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "GAMT deficiency" EXACT [DOID:0050799, OMIM:612736, Orphanet:382]
synonym: "guanidinoacetate methyltransferase deficiency" EXACT CLINGEN_LABEL [OMIM:612736]
synonym: "guanidinoacetate N-methyltransferase activity disease" EXACT [MONDO:design_pattern]
xref: DOID:0050799 {source="MONDO:equivalentTo"}
xref: GARD:2578 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:382", source="Orphanet:382/attributed", source="Orphanet:382/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:154356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537622 {source="MONDO:equivalentTo", source="Orphanet:382", source="Orphanet:382/e"}
xref: NANDO:1201034 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201300 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1967 {source="MONDO:NORD"}
xref: OMIM:612736 {source="DOID:0050799", source="MONDO:equivalentTo", source="Orphanet:382", source="Orphanet:382/e"}
xref: Orphanet:382 {source="MONDO:equivalentTo", source="OMIM:612736"}
xref: SCTID:124239003 {source="MONDO:equivalentTo"}
xref: UMLS:C0574080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154356"}
is_a: MONDO:0000456 {source="DOID:0050799", source="OMIM:612736", source="Orphanet:382"} ! cerebral creatine deficiency syndrome
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0030731 ! guanidinoacetate N-methyltransferase activity
relationship: disease_has_basis_in_disruption_of GO:0006601 ! creatine biosynthetic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4136 {source="MONDO:mim2gene_medgen"} ! GAMT
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency" xsd:anyURI {source="GARD:0002578"}

[Term]
id: MONDO:0013000
name: porphyria due to ALA dehydratase deficiency
def: "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." [Orphanet:100924]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16937", source="MONDO:GARD"}
subset: nord_rare {source="NORD:747", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100924"}
subset: orphanet_rare {source="Orphanet:100924"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5-aminolevulinic acid dehydratase deficiency porphyria" RELATED [GARD:0004445]
synonym: "acute hepatic porphyria" EXACT [NCIT:C133887, OMIM:612740]
synonym: "ALA dehydratase deficiency pophyria" RELATED [GARD:0004445]
synonym: "ALAD deficiency" RELATED [OMIM:612740]
synonym: "ALAD Porphyria" EXACT [NORD:747]
synonym: "ALAD porphyria" EXACT [Orphanet:100924]
synonym: "aminolevulinate dehydratase deficiency porphyria" RELATED [GARD:0004445]
synonym: "Delta-aminolevulinate dehydratase deficiency" RELATED [OMIM:612740]
synonym: "Doss porphyria" RELATED [OMIM:612740]
synonym: "Lead poisoning, susceptibility to" RELATED [OMIM:612740]
synonym: "porphobilinogen synthase deficiency" RELATED [OMIM:612740]
synonym: "porphyria due to ALA dehydratase deficiency" EXACT CLINGEN_LABEL []
synonym: "porphyria due to ALAD deficiency" EXACT [Orphanet:100924]
synonym: "porphyria due to delta-aminolevulinate dehydratase deficiency" EXACT [Orphanet:100924]
synonym: "porphyria of Doss" EXACT [Orphanet:100924]
synonym: "porphyria, acute hepatic" RELATED [OMIM:612740]
synonym: "porphyria, ALAD" RELATED [OMIM:612740]
xref: GARD:16937 {source="MONDO:GARD"}
xref: ICD10CM:E80.2 {source="Orphanet:100924/attributed", source="Orphanet:100924/ntbt", source="Orphanet:100924"}
xref: MEDGEN:78659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562618 {source="MONDO:equivalentTo"}
xref: NCIT:C133887 {source="MONDO:equivalentTo"}
xref: NORD:747 {source="MONDO:NORD"}
xref: OMIM:612740 {source="Orphanet:100924/e", source="MONDO:equivalentTo", source="Orphanet:100924"}
xref: Orphanet:100924 {source="OMIM:612740", source="MONDO:equivalentTo"}
xref: UMLS:C0268328 {source="MEDGEN:78659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002520 {source="MESH:C562618", source="Orphanet:100924"} ! hepatic porphyria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/395 {source="MONDO:mim2gene_medgen"} ! ALAD
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria" xsd:anyURI {source="GARD:0004445"}

[Term]
id: MONDO:0013001
name: obsolete synesthesia
comment: This is not a disease, and may be obsoleted or moved to another hierarchy
synonym: "synesthesia" EXACT [OMIM:612759]
synonym: "Synsth" RELATED [OMIM:612759]
xref: MESH:C562460 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:612759 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1688" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0013002
name: cone-rod dystrophy 9
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADAM9 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612775]
synonym: "cone-rod dystrophy caused by mutation in ADAM9" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 9" EXACT [DOID:0111020, MONDORULE:1, OMIM:612775]
synonym: "CORD9" EXACT ABBREVIATION [DOID:0111020, MONDO:Lexical, OMIM:612775]
xref: DOID:0111020 {source="MONDO:equivalentTo"}
xref: GARD:15582 {source="MONDO:GARD"}
xref: MEDGEN:244692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612775 {source="MONDO:equivalentTo", source="DOID:0111020"}
xref: UMLS:C1423873 {source="MEDGEN:244692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:612775", source="DOID:0111020", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0800398 {source="https://clinicalgenome.org/affiliation/40072/"} ! ADAM9-related retinopathy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/216 ! ADAM9
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/216 {source="MONDO:mim2gene_medgen"} ! ADAM9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0013003
name: isolated congenital hypoglossia/aglossia
def: "Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS)." [Orphanet:141152]
subset: gard_rare {source="GARD:16972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141152"}
subset: ordo_morphological_anomaly {source="Orphanet:141152"}
subset: orphanet_rare {source="Orphanet:141152"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypoglossia with situs inversus" RELATED [OMIM:612776]
synonym: "hypoglossia, isolated" RELATED [OMIM:612776]
xref: GARD:16972 {source="MONDO:GARD"}
xref: ICD10CM:Q38.3 {source="Orphanet:141152/attributed", source="Orphanet:141152/ntbt", source="Orphanet:141152"}
xref: MEDGEN:411249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612776 {source="Orphanet:141152", source="MONDO:equivalentTo", source="Orphanet:141152/e"}
xref: Orphanet:141152 {source="MONDO:equivalentTo", source="OMIM:612776"}
xref: UMLS:C2748587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411249"}
is_a: MONDO:0001165 {source="https://orcid.org/0000-0002-5002-8648"} ! tongue disorder
is_a: MONDO:0017139 {source="PMID:1477514", source="https://orcid.org/0009-0001-6494-4831"} ! oromandibular-limb hypogenesis syndrome
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0013004
name: hypotonia, seizures, and precocious puberty
synonym: "hypotonia, seizures, and precocious puberty" EXACT [OMIM:612777]
xref: MEDGEN:411248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567566 {source="MONDO:equivalentTo"}
xref: OMIM:612777 {source="MONDO:equivalentTo"}
xref: UMLS:C2748586 {source="MEDGEN:411248", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013005
name: EAST syndrome
def: "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)." [Orphanet:199343]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10514", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199343"}
subset: orphanet_rare {source="Orphanet:199343"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EAST syndrome" EXACT [OMIM:612780]
synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT [DOID:0060484]
synonym: "epilepsy, ataxia, sensorineural deafness, and tubulopathy" RELATED [OMIM:612780]
synonym: "seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance" RELATED [GARD:0010514]
synonym: "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance" EXACT [DOID:0060484]
synonym: "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance" RELATED [MONDO:Lexical, OMIM:612780]
synonym: "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" EXACT DEPRECATED [DOID:0060484]
synonym: "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance" RELATED DEPRECATED [MONDO:Lexical, OMIM:612780]
synonym: "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome" EXACT [Orphanet:199343]
synonym: "sesame syndrome" EXACT [DOID:0060484, OMIM:612780, Orphanet:199343]
synonym: "SESAMES" RELATED DEPRECATED [MONDO:Lexical, OMIM:612780]
xref: DOID:0060484 {source="MONDO:equivalentTo"}
xref: GARD:10514 {source="MONDO:GARD"}
xref: MEDGEN:411243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557674 {source="DOID:0060484", source="MONDO:equivalentTo"}
xref: OMIM:612780 {source="DOID:0060484", source="Orphanet:199343", source="MONDO:equivalentTo", source="Orphanet:199343/e"}
xref: Orphanet:199343 {source="DOID:0060484", source="MONDO:equivalentTo", source="OMIM:612780"}
xref: SCTID:721207002 {source="MONDO:equivalentTo"}
xref: UMLS:C2748572 {source="MEDGEN:411243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:199343"} ! inherited renal tubular disease
is_a: MONDO:0100309 {source="Orphanet:199343"} ! hereditary ataxia
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6256 {source="MONDO:mim2gene_medgen"} ! KCNJ10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013006
name: isolated growth hormone deficiency type IB
def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." [DOID:0060874, PMID:10678654, PMID:8288694, PMID:8528260]
subset: gard_rare {source="GARD:3919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231671"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital IGHD type IB" EXACT [DOID:0060874, Orphanet:231671]
synonym: "congenital isolated GH deficiency type IB" EXACT [DOID:0060874, Orphanet:231671]
synonym: "congenital isolated growth hormone deficiency type IB" EXACT [DOID:0060874, Orphanet:231671]
synonym: "dwarfism of Sindh" EXACT [DOID:0060874, GARD:0003919, OMIM:612781]
synonym: "growth hormone deficiency, isolated, type IB" EXACT [OMIM:612781, OMIM:genemap2]
synonym: "IGHD 1B" RELATED [GARD:0003919, OMIM:612781]
synonym: "IGHD IB" EXACT [DOID:0060874]
synonym: "IGHD1B" RELATED ABBREVIATION [GARD:0003919, MONDO:Lexical, OMIM:612781]
synonym: "isolated growth hormone deficiency type 1B" RELATED [GARD:0003919]
synonym: "isolated Growth hormone deficiency, type 1B" RELATED [OMIM:612781]
synonym: "isolated growth hormone deficiency, type IB" RELATED [MONDO:Lexical, OMIM:612781]
xref: DOID:0060874 {source="MONDO:equivalentTo"}
xref: GARD:3919 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:231671/attributed", source="Orphanet:231671/ntbt", source="Orphanet:231671", source="DOID:0060874"}
xref: MEDGEN:411242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567564 {source="MONDO:equivalentTo"}
xref: OMIM:612781 {source="Orphanet:231671", source="MONDO:equivalentTo", source="DOID:0060874", source="Orphanet:231671/e", source="GARD:0003919"}
xref: Orphanet:231671 {source="OMIM:612781", source="MONDO:equivalentTo", source="DOID:0060874"}
xref: Orphanet:631 {source="OMIM:612781"}
xref: UMLS:C2748571 {source="MEDGEN:411242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000050 {source="DC-OMIM:612781", source="DOID:0060874", source="Orphanet:231671"} ! isolated congenital growth hormone deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b" xsd:anyURI {source="GARD:0003919"}

[Term]
id: MONDO:0013007
name: combined immunodeficiency due to ORAI1 deficiency
def: "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." [Orphanet:317428]
subset: gard_rare {source="GARD:10524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:317428"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CID due to ORAI1 deficiency" EXACT [Orphanet:317428]
synonym: "IMD9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612782]
synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" RELATED [OMIM:612782]
synonym: "immunodeficiency 9" RELATED [MONDO:Lexical, OMIM:612782]
synonym: "immunodeficiency type 9" EXACT [MONDORULE:1, OMIM:612782]
xref: DOID:0111976 {source="MONDO:equivalentTo"}
xref: GARD:10524 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:317428", source="Orphanet:317428/attributed", source="Orphanet:317428/ntbt"}
xref: MEDGEN:440578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557826 {source="MONDO:equivalentTo"}
xref: OMIM:612782 {source="Orphanet:317428", source="MONDO:equivalentTo", source="Orphanet:317428/e"}
xref: Orphanet:169090 {source="OMIM:612782"}
xref: Orphanet:317428 {source="OMIM:612782", source="MONDO:equivalentTo"}
xref: UMLS:C2748568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440578"}
is_a: MONDO:0015695 {source="Orphanet:317428"} ! combined immunodeficiency due to CRAC channel dysfunction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25896 {source="MONDO:mim2gene_medgen"} ! ORAI1

[Term]
id: MONDO:0013008
name: combined immunodeficiency due to STIM1 deficiency
def: "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." [Orphanet:317430]
subset: gard_rare {source="GARD:10523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:317430"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CID due to STIM1 deficiency" EXACT [Orphanet:317430]
synonym: "IMD10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612783]
synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 2" RELATED [OMIM:612783]
synonym: "immunodeficiency 10" RELATED [MONDO:Lexical, OMIM:612783]
synonym: "immunodeficiency type 10" EXACT [MONDORULE:2, OMIM:612783]
synonym: "STIM1 deficiency" RELATED [OMIM:612783]
xref: DOID:0111970 {source="MONDO:equivalentTo"}
xref: GARD:10523 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:317430/attributed", source="Orphanet:317430/ntbt", source="Orphanet:317430"}
xref: MEDGEN:440575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557827 {source="MONDO:equivalentTo"}
xref: OMIM:612783 {source="Orphanet:317430/e", source="MONDO:equivalentTo", source="Orphanet:317430"}
xref: Orphanet:169090 {source="OMIM:612783"}
xref: Orphanet:317430 {source="OMIM:612783", source="MONDO:equivalentTo"}
xref: UMLS:C2748557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440575"}
is_a: MONDO:0015695 {source="Orphanet:317430"} ! combined immunodeficiency due to CRAC channel dysfunction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11386 {source="MONDO:mim2gene_medgen"} ! STIM1

[Term]
id: MONDO:0013009
name: Megarbane-Jalkh syndrome
synonym: "developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure" RELATED [GARD:0010689]
synonym: "developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure" RELATED [OMIM:612785]
synonym: "Megarbane Jalkh syndrome" RELATED [GARD:0010689]
synonym: "Megarbane-Jalkh syndrome" EXACT [OMIM:612785]
xref: MEDGEN:412581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548071 {source="MONDO:equivalentTo"}
xref: OMIM:612785 {source="MONDO:equivalentTo"}
xref: UMLS:C2748555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412581"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome" xsd:anyURI {source="GARD:0010689"}

[Term]
id: MONDO:0013010
name: autosomal recessive nonsyndromic hearing loss 71
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3." [DOID:0110522, PMID:19229252]
subset: gard_rare {source="GARD:22630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 71" NARROW [DOID:0110522]
synonym: "autosomal recessive nonsyndromic deafness 71" NARROW [OMIM:612789]
synonym: "autosomal recessive nonsyndromic deafness type 71" NARROW [DOID:0110522, MONDORULE:2]
synonym: "deafness, autosomal recessive 71" NARROW [MONDO:Lexical, OMIM:612789, OMIM:genemap2]
synonym: "DFNB71" NARROW ABBREVIATION [DOID:0110522, MONDO:Lexical, OMIM:612789]
xref: DOID:0110522 {source="MONDO:equivalentTo"}
xref: GARD:22630 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110522"}
xref: MEDGEN:411609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567562 {source="MONDO:equivalentTo"}
xref: OMIM:612789 {source="DOID:0110522", source="MONDO:equivalentTo"}
xref: UMLS:C2748554 {source="MEDGEN:411609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:612789", source="DOID:0110522", source="OMIM:612789"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013011
name: atrial septal defect 5
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTC1 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ASD5" EXACT ABBREVIATION [DOID:0110110, MONDO:Lexical, OMIM:612794]
synonym: "atrial heart septal defect caused by mutation in ACTC1" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 5" EXACT [DOID:0110110, MONDORULE:1]
synonym: "atrial septal defect 5" EXACT [DOID:0110110, MONDO:Lexical, OMIM:612794]
synonym: "atrial septal defect type 5" EXACT [MONDORULE:1, OMIM:612794]
xref: DOID:0110110 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q21.1 {source="DOID:0110110"}
xref: MEDGEN:412580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567561 {source="MONDO:equivalentTo"}
xref: OMIM:612794 {source="MONDO:equivalentTo", source="DOID:0110110"}
xref: Orphanet:1478 {source="OMIM:612794"}
xref: UMLS:C2748552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412580"}
is_a: MONDO:0006664 {source="DC-OMIM:612794", source="DOID:0110110", source="MESH:C567561", source="MONDO:Redundant", source="OMIM:612794"} ! atrial septal defect
intersection_of: MONDO:0006664 ! atrial septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 ! ACTC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 {source="MONDO:mim2gene_medgen"} ! ACTC1

[Term]
id: MONDO:0013012
name: inflammatory bowel disease 27
def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3" [DOID:0110902, PMID:18246054]
synonym: "IBD27" EXACT ABBREVIATION [DOID:0110902, MONDO:Lexical, OMIM:612796]
synonym: "inflammatory bowel disease 27" EXACT [MONDO:Lexical, OMIM:612796]
synonym: "inflammatory bowel disease type 27" EXACT [DOID:0110902, MONDORULE:2]
xref: DOID:0110902 {source="MONDO:equivalentTo"}
xref: MEDGEN:412579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567559 {source="MONDO:equivalentTo"}
xref: OMIM:612796 {source="MONDO:equivalentTo", source="DOID:0110902"}
xref: Orphanet:206 {source="OMIM:612796"}
xref: Orphanet:771 {source="OMIM:612796"}
xref: UMLS:C2748550 {source="MEDGEN:412579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DC-OMIM:612796", source="DOID:0110902", source="MESH:C567559", source="OMIM:612796"} ! inflammatory bowel disease

[Term]
id: MONDO:0013013
name: question mark ears, isolated
subset: gard_rare {source="GARD:15583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "auricular cleft, congenital" RELATED [OMIM:612798]
synonym: "Cosman deformity of the auricle" RELATED [OMIM:612798]
synonym: "ears, prominent and constricted" RELATED [OMIM:612798]
synonym: "QME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612798]
synonym: "question MARK ears, isolated" RELATED [OMIM:612798]
synonym: "question mark ears, isolated" EXACT [MONDO:Lexical, OMIM:612798]
xref: GARD:15583 {source="MONDO:GARD"}
xref: MEDGEN:411238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612798 {source="MONDO:equivalentTo"}
xref: Orphanet:137888 {source="OMIM:612798"}
xref: UMLS:C2748545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411238"}
is_a: MONDO:0000107 {source="Orphanet:137888/btnt"} ! auriculocondylar syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3176 {source="MONDO:mim2gene_medgen"} ! EDN1

[Term]
id: MONDO:0013014
name: spondyloepimetaphyseal dysplasia, aggrecan type
def: "A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings." [https://orcid.org/0000-0001-5208-3432, Orphanet:171866]
subset: gard_rare {source="GARD:10513", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171866"}
subset: orphanet_rare {source="Orphanet:171866"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMD, aggrecan type" EXACT [OMIM:612813, Orphanet:171866]
synonym: "SEMDAG" RELATED ABBREVIATION [OMIM:612813]
synonym: "spondyloepimetaphyseal dysplasia, aggrecan type" EXACT [OMIM:612813]
xref: GARD:10513 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:171866/attributed", source="Orphanet:171866/ntbt", source="Orphanet:171866"}
xref: MEDGEN:411237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567558 {source="MONDO:equivalentTo"}
xref: OMIM:612813 {source="Orphanet:171866/e", source="MONDO:equivalentTo", source="Orphanet:171866"}
xref: Orphanet:171866 {source="MONDO:equivalentTo", source="OMIM:612813"}
xref: SCTID:719165004 {source="MONDO:equivalentTo"}
xref: UMLS:C2748544 {source="MEDGEN:411237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:612813", source="Orphanet:171866", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/319 {source="MONDO:mim2gene_medgen"} ! ACAN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type" xsd:anyURI {source="GARD:0010513"}

[Term]
id: MONDO:0013015
name: Brugada syndrome 5
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15584", source="MONDO:GARD"}
subset: rare
synonym: "BRGDA5" EXACT ABBREVIATION [DOID:0110222, MONDO:Lexical, OMIM:612838]
synonym: "Brugada syndrome 5" EXACT [MONDO:Lexical, OMIM:612838]
synonym: "Brugada syndrome caused by mutation in SCN1B" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 5" EXACT [DOID:0110222, MONDORULE:1, OMIM:612838]
synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:612838]
synonym: "SCN1B Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110222 {source="MONDO:equivalentTo"}
xref: GARD:15584 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0110222"}
xref: MEDGEN:411607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612838 {source="MONDO:equivalentTo", source="DOID:0110222"}
xref: Orphanet:130 {source="OMIM:612838"}
xref: Orphanet:871 {source="MONDO:relatedTo", source="OMIM:612838"}
xref: UMLS:C2748541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411607"}
is_a: MONDO:0015263 {source="DC-OMIM:612838", source="DOID:0110222", source="MONDO:Redundant", source="OMIM:612838"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10586 ! SCN1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10586 {source="MONDO:mim2gene_medgen"} ! SCN1B

[Term]
id: MONDO:0013016
name: leukocyte adhesion deficiency 3
def: "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder." [Orphanet:99844]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16915", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99844"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FERMT3 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IADD" EXACT ABBREVIATION [DOID:0110912]
synonym: "integrin Activation deficiency disease" RELATED [OMIM:612840]
synonym: "integrin activation deficiency disease" EXACT [DOID:0110912]
synonym: "lad-1 variant" EXACT [Orphanet:99844]
synonym: "lad-III" EXACT [Orphanet:99844]
synonym: "LAD1 variant" EXACT [DOID:0110912]
synonym: "LAD1V" EXACT ABBREVIATION [DOID:0110912]
synonym: "LAD3" EXACT ABBREVIATION [DOID:0110912, MONDO:Lexical, OMIM:612840]
synonym: "leukocyte adhesion deficiency 1 variant" EXACT [DOID:0110912, OMIM:612840]
synonym: "leukocyte adhesion deficiency 3" EXACT CLINGEN_LABEL [OMIM:612840]
synonym: "leukocyte adhesion deficiency caused by mutation in FERMT3" EXACT [MONDO:design_pattern]
synonym: "leukocyte adhesion deficiency type 3" EXACT [DOID:0110912, MONDORULE:1]
synonym: "leukocyte adhesion deficiency type III" EXACT [DOID:0110912]
synonym: "leukocyte adhesion deficiency, type 3" RELATED [OMIM:612840]
synonym: "leukocyte adhesion deficiency, type III" RELATED [MONDO:Lexical, OMIM:612840]
synonym: "leukocyte adhesion deficiency-1 variant" EXACT [Orphanet:99844]
xref: DOID:0110912 {source="MONDO:equivalentTo"}
xref: GARD:16915 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:99844/attributed", source="Orphanet:99844/ntbt", source="Orphanet:99844"}
xref: MEDGEN:411605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567555 {source="MONDO:equivalentTo"}
xref: OMIM:612840 {source="DOID:0110912", source="Orphanet:99844", source="MONDO:equivalentTo", source="Orphanet:99844/e"}
xref: Orphanet:2968 {source="OMIM:612840"}
xref: Orphanet:99844 {source="DOID:0110912", source="OMIM:612840", source="MONDO:equivalentTo"}
xref: UMLS:C2748536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411605"}
is_a: MONDO:0017198 {source="Orphanet:99844", source="PMID:31633310"} ! osteopetrosis
is_a: MONDO:0017570 {source="DOID:0110912", source="MONDO:Redundant", source="Orphanet:99844"} ! leukocyte adhesion deficiency
intersection_of: MONDO:0017570 ! leukocyte adhesion deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23151 ! FERMT3
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612840", source="Orphanet:99844"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23151 {source="MONDO:mim2gene_medgen"} ! FERMT3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013017
name: hypotrichosis 5
def: "A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3." [DOID:0110702, PMID:16185270]
subset: gard_rare {source="GARD:15585", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypotrichosis 5" EXACT [MONDO:Lexical, OMIM:612841]
synonym: "hypotrichosis type 5" EXACT [DOID:0110702, MONDORULE:1]
synonym: "HYPT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612841]
synonym: "hypt5" EXACT [DOID:0110702]
synonym: "Marie Unna hereditary hypotrichosis 2" EXACT [DOID:0110702, OMIM:612841]
synonym: "Muhh2" EXACT [DOID:0110702]
xref: DOID:0110702 {source="MONDO:equivalentTo"}
xref: GARD:15585 {source="MONDO:GARD"}
xref: MEDGEN:440568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567554 {source="MONDO:equivalentTo"}
xref: OMIM:612841 {source="DOID:0110702", source="MONDO:equivalentTo"}
xref: Orphanet:444 {source="OMIM:612841"}
xref: UMLS:C2748535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440568"}
is_a: MONDO:0003037 {source="DOID:0110702", source="MESH:C567554", source="MONDO:Redundant", source="OMIM:612841"} ! hypotrichosis
is_a: MONDO:0018631 {source="https://orcid.org/0000-0001-5493-2602"} ! Marie Unna hereditary hypotrichosis
relationship: excluded_subClassOf MONDO:0018631 {source="Orphanet:444/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Marie Unna hereditary hypotrichosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6357" xsd:anyURI

[Term]
id: MONDO:0013018
name: keratosis follicularis spinulosa decalvans, autosomal dominant
subset: gard_rare {source="GARD:15586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratosis follicularis SPINULOSA decalvans, autosomal dominant" RELATED [OMIM:612843]
synonym: "keratosis follicularis spinulosa decalvans, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612843]
synonym: "KFSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612843]
xref: DOID:0080755 {source="MONDO:equivalentTo"}
xref: GARD:15586 {source="MONDO:GARD"}
xref: MEDGEN:412573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567553 {source="MONDO:equivalentTo"}
xref: OMIM:612843 {source="MONDO:equivalentTo"}
xref: Orphanet:2340 {source="OMIM:612843"}
xref: UMLS:C2748527 {source="MEDGEN:412573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000136 {source="DC-OMIM:612843"} ! keratosis follicularis spinulosa decalvans

[Term]
id: MONDO:0013019
name: obsolete spondyloepimetaphyseal dysplasia, Pakistani type
is_obsolete: true
replaced_by: MONDO:0019666

[Term]
id: MONDO:0013020
name: narcolepsy 5, susceptibility to
subset: predisposition
synonym: "narcolepsy 5" RELATED [OMIM:612851, OMIM:genemap2]
synonym: "narcolepsy 5, susceptibility to" EXACT [OMIM:612851]
synonym: "NRCLP5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612851]
xref: MEDGEN:440562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612851 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:612851"}
xref: UMLS:C2748508 {source="MONDO:equivalentTo", source="MEDGEN:440562", source="MONDO:MEDGEN"}
is_a: MONDO:0100049 {source="DC-OMIM:612851"} ! narcolepsy, susceptibility to
relationship: predisposes_towards MONDO:0021107 {source="OMIM:612851"} ! narcolepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013021
name: sterile multifocal osteomyelitis with periostitis and pustulosis
def: "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." [NCIT:C119056]
subset: gard_rare {source="GARD:10516", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210115"}
subset: orphanet_rare {source="Orphanet:210115"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115]
synonym: "deficiency of interleukin-1 receptor antagonist" RELATED [GARD:0010516]
synonym: "deficiency of the Interleukin-1 receptor antagonist" EXACT [NCIT:C119056]
synonym: "DIRA" EXACT ABBREVIATION [Orphanet:210115]
synonym: "Interleukin 1 receptor antagonist deficiency" RELATED [OMIM:612852]
synonym: "Interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115]
synonym: "OMPP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612852, Orphanet:210115]
synonym: "osteomyelitis, STERILE multifocal, with periostitis and pustulosis" RELATED [MONDO:Lexical, OMIM:612852]
xref: GARD:10516 {source="MONDO:GARD"}
xref: MEDGEN:411230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557815 {source="MONDO:equivalentTo"}
xref: NANDO:2200439 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119056 {source="MONDO:equivalentTo"}
xref: OMIM:612852 {source="MONDO:equivalentTo", source="Orphanet:210115", source="Orphanet:210115/e"}
xref: Orphanet:210115 {source="OMIM:612852", source="MONDO:equivalentTo"}
xref: UMLS:C2748507 {source="MEDGEN:411230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0009813 {source="OMIM:612852"} ! chronic recurrent multifocal osteomyelitis
is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119056", source="Orphanet:210115/inferred", source="PMID:23827249"} ! autoinflammatory syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6000 {source="MONDO:mim2gene_medgen"} ! IL1RN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0013022
name: restless legs syndrome, susceptibility to, 7
subset: predisposition
synonym: "restless legs syndrome 7" EXACT [OMIM:612853, OMIM:genemap2]
synonym: "restless legs syndrome, susceptibility to, 7" EXACT [OMIM:612853]
synonym: "RLS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612853]
xref: MEDGEN:440561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612853 {source="MONDO:equivalentTo"}
xref: UMLS:C2748506 {source="MEDGEN:440561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100170 {source="OMIM:612853"} ! restless legs syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005391 {source="DC-OMIM:612853", source="OMIM:612853"} ! restless legs syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013023
name: orofacial cleft 12
synonym: "cleft lip with or without cleft palate, nonsyndromic, 12" RELATED [OMIM:612858]
synonym: "OFC12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612858]
synonym: "orofacial cleft 12" EXACT [MONDO:Lexical, OMIM:612858]
xref: DOID:0080405 {source="MONDO:equivalentTo"}
xref: MEDGEN:411596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567548 {source="MONDO:equivalentTo"}
xref: OMIM:612858 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:612858"}
xref: UMLS:C2748505 {source="MEDGEN:411596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:612858"} ! orofacial cleft
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0013024
name: chronic thromboembolic pulmonary hypertension
def: "Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure." [Orphanet:70591]
subset: gard_rare {source="GARD:13124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70591"}
subset: orphanet_rare {source="Orphanet:70591"}
subset: rare
synonym: "CTEPH" EXACT ABBREVIATION [Orphanet:70591]
synonym: "Cteph, Dvt-negative, susceptibility to" RELATED [OMIM:612862]
synonym: "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" RELATED [OMIM:612862]
xref: GARD:13124 {source="MONDO:GARD"}
xref: icd11.foundation:1567490107 {source="Orphanet:70591", source="MONDO:equivalentTo"}
xref: ICD9:415.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068739 {source="Orphanet:70591", source="Orphanet:70591/e"}
xref: MEDGEN:440560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200429 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612862 {source="Orphanet:70591", source="MONDO:equivalentTo", source="Orphanet:70591/e"}
xref: Orphanet:70591 {source="OMIM:612862", source="MONDO:equivalentTo"}
xref: SCTID:233947005 {source="MONDO:equivalentTo"}
xref: UMLS:C2748504 {source="MEDGEN:440560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005149 {source="Orphanet:70591"} ! pulmonary hypertension
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019096"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension" xsd:anyURI {source="GARD:0013124"}

[Term]
id: MONDO:0013025
name: chromosome 6q24-q25 deletion syndrome
def: "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." [Orphanet:251056]
subset: gard_rare {source="GARD:3764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251056"}
subset: ordo_malformation_syndrome {source="Orphanet:251056"}
subset: orphanet_rare {source="Orphanet:251056"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "6q25 microdeletion syndrome" EXACT [DOID:0060424]
synonym: "chromosome 6q24-q25 deletion syndrome" EXACT [OMIM:612863]
synonym: "chromosome 6q25 microdeletion syndrome" RELATED [GARD:0003764]
synonym: "chromosome 6q25-q25 deletion syndrome" EXACT [OMIM:612863, OMIM:genemap2]
synonym: "Del(6)(q25)" EXACT [Orphanet:251056]
synonym: "del(6q25)" RELATED [NCIT:C36470]
synonym: "deletion 6q25" RELATED [GARD:0003764]
synonym: "monosomy 6q25" EXACT [DOID:0060424, Orphanet:251056]
xref: DOID:0060424 {source="MONDO:equivalentTo"}
xref: GARD:3764 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:251056/attributed", source="Orphanet:251056/ntbt", source="Orphanet:251056"}
xref: MEDGEN:461565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36470 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"}
xref: OMIM:612863 {source="Orphanet:251056", source="DOID:0060424", source="MONDO:equivalentTo", source="Orphanet:251056/e"}
xref: Orphanet:251056 {source="OMIM:612863", source="DOID:0060424", source="MONDO:equivalentTo"}
xref: SCTID:719663005 {source="MONDO:equivalentTo"}
xref: UMLS:C3150215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461565"}
is_a: MONDO:0000761 {source="DC-OMIM:612863", source="DOID:0060424"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016905 {source="Orphanet:251056"} ! partial deletion of the long arm of chromosome 6
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr6q24-q25 ! 6q24-q25 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013026
name: subepithelial mucinous corneal dystrophy
def: "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." [Orphanet:98959]
subset: gard_rare {source="GARD:16878", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98959"}
subset: orphanet_rare {source="Orphanet:98959"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy, subepithelial mucinous" RELATED [MONDO:Lexical, OMIM:612867]
synonym: "SMCD" EXACT ABBREVIATION [DOID:0060454, MONDO:Lexical, OMIM:612867, Orphanet:98959]
synonym: "subepithelial mucinous corneal dystrophy" EXACT [OMIM:612867]
xref: DOID:0060454 {source="MONDO:equivalentTo"}
xref: GARD:16878 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="DOID:0060454", source="Orphanet:98959/attributed", source="Orphanet:98959/ntbt", source="Orphanet:98959"}
xref: MEDGEN:411595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567547 {source="DOID:0060454", source="MONDO:equivalentTo"}
xref: OMIM:612867 {source="Orphanet:98959/e", source="DOID:0060454", source="MONDO:equivalentTo", source="Orphanet:98959"}
xref: Orphanet:98959 {source="DOID:0060454", source="MONDO:equivalentTo", source="OMIM:612867"}
xref: SCTID:723582004 {source="MONDO:equivalentTo"}
xref: UMLS:C2748503 {source="MEDGEN:411595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000763 {source="DOID:0060454"} ! epithelial and subepithelial corneal dystrophy
is_a: MONDO:0020212 {source="Orphanet:98959"} ! superficial corneal dystrophy

[Term]
id: MONDO:0013027
name: posterior amorphous corneal dystrophy
def: "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." [Orphanet:98971]
subset: gard_rare {source="GARD:16880", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98971"}
subset: orphanet_rare {source="Orphanet:98971"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 12Q21.33 deletion syndrome" RELATED [OMIM:612868]
synonym: "corneal dystrophy, POSTERIOR amorphous" RELATED [MONDO:Lexical, OMIM:612868]
synonym: "PACD" EXACT ABBREVIATION [DOID:0060452, MONDO:Lexical, OMIM:612868, Orphanet:98971]
synonym: "posterior amorphous corneal dystrophy" EXACT [OMIM:612868]
synonym: "posterior amorphous stromal dystrophy" EXACT [Orphanet:98971]
xref: DOID:0060452 {source="MONDO:equivalentTo"}
xref: GARD:16880 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98971", source="DOID:0060452", source="Orphanet:98971/attributed", source="Orphanet:98971/ntbt"}
xref: MEDGEN:412567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567546 {source="DOID:0060452", source="MONDO:equivalentTo"}
xref: OMIM:612868 {source="Orphanet:98971", source="DOID:0060452", source="MONDO:equivalentTo", source="Orphanet:98971/e"}
xref: Orphanet:98971 {source="DOID:0060452", source="MONDO:equivalentTo", source="OMIM:612868"}
xref: SCTID:719296002 {source="MONDO:equivalentTo"}
xref: UMLS:C2748502 {source="MONDO:equivalentTo", source="MEDGEN:412567", source="MONDO:MEDGEN"}
is_a: MONDO:0020213 {source="DOID:0060452", source="Orphanet:98971"} ! stromal corneal dystrophy

[Term]
id: MONDO:0013028
name: adenosine monophosphate deaminase deficiency
def: "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue." [Orphanet:45]
subset: gard_rare {source="GARD:547", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:45"}
subset: orphanet_rare {source="Orphanet:45"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMP deaminase deficiency" EXACT [Orphanet:45]
synonym: "myoadenylate deaminase deficiency" EXACT [Orphanet:45]
xref: GARD:547 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:45", source="Orphanet:45/attributed", source="Orphanet:45/ntbt"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:444140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538234 {source="Orphanet:45", source="MONDO:equivalentTo", source="Orphanet:45/e"}
xref: Orphanet:45 {source="OMIM:612874", source="MONDO:equivalentTo"}
xref: SCTID:9105005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444140"}
is_a: MONDO:0009637 {source="Orphanet:45"} ! inborn mitochondrial myopathy
is_a: MONDO:0019236 {source="Orphanet:45"} ! inborn disorder of purine metabolism

[Term]
id: MONDO:0013029
name: cerebellar ataxia type 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebellar ataxia type 9" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "SCA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612876]
synonym: "spinocerebellar ataxia 9" RELATED [MONDO:Lexical, OMIM:612876]
synonym: "spinocerebellar ataxia type 9" RELATED [GARD:0010481]
xref: DOID:0111747 {source="MONDO:equivalentTo"}
xref: MEDGEN:854704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612876 {source="MONDO:equivalentTo"}
xref: UMLS:C3887996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854704"}
is_a: MONDO:0020380 {source="DC-OMIM:612876", source="OMIM:612876"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0013030
name: dilated cardiomyopathy 1BB
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1BB" RELATED [MONDO:Lexical, OMIM:612877]
synonym: "cardiomyopathy, dilated, type 1Bb" EXACT [MONDORULE:9, OMIM:612877]
synonym: "CMD1BB" EXACT ABBREVIATION [DOID:0110458, MONDO:Lexical, OMIM:612877]
synonym: "dilated cardiomyopathy type 1BB" EXACT [DOID:0110458, MONDORULE:9]
synonym: "DSG2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern]
xref: DOID:0110458 {source="MONDO:equivalentTo"}
xref: GARD:15588 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110458"}
xref: MEDGEN:414552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567877 {source="MONDO:equivalentTo"}
xref: OMIM:612877 {source="DOID:0110458", source="MONDO:equivalentTo"}
xref: UMLS:C2752072 {source="MEDGEN:414552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:612877"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3049 {source="MONDO:mim2gene_medgen"} ! DSG2

[Term]
id: MONDO:0013031
name: chromosome 5Q14.3 deletion syndrome, distal
subset: gard_rare {source="GARD:15589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 5Q14.3 deletion syndrome, distal" EXACT [OMIM:612881]
synonym: "heterotopia, periventricular, associated with chromosome 5Q deletion" RELATED [OMIM:612881]
synonym: "periventricular nodular heterotopia 5" RELATED [OMIM:612881]
xref: GARD:15589 {source="MONDO:GARD"}
xref: MEDGEN:442882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567876 {source="MONDO:equivalentTo"}
xref: OMIM:612881 {source="MONDO:equivalentTo"}
xref: Orphanet:2149 {source="OMIM:612881"}
xref: Orphanet:98892 {source="OMIM:612881"}
xref: UMLS:C2752071 {source="MEDGEN:442882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020341 {source="DC-OMIM:612881", source="MESH:C567876"} ! periventricular nodular heterotopia

[Term]
id: MONDO:0013032
name: epilepsy, idiopathic generalized, susceptibility to, 8
def: "Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CASR generalised epilepsy" EXACT OMO:0003005 []
synonym: "CASR generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EIG8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612899]
synonym: "epilepsy idiopathic generalized, susceptibility to, 8" EXACT [OMIM:612899, OMIM:genemap2]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612899]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:612899]
synonym: "generalised epilepsy caused by mutation in CASR" EXACT OMO:0003005 []
synonym: "generalized epilepsy caused by mutation in CASR" EXACT [MONDO:design_pattern]
synonym: "susceptibility to idiopathic generalised epilepsy 8" RELATED OMO:0003005 []
synonym: "susceptibility to idiopathic generalized epilepsy 8" RELATED [OMIM:612899]
xref: DOID:0111322 {source="MONDO:equivalentTo"}
xref: MEDGEN:414549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612899 {source="MONDO:equivalentTo"}
xref: UMLS:C2752062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414549"}
is_a: MONDO:0020573 {source="OMIM:612899"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 ! CASR
intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic generalized
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1514 {source="MONDO:mim2gene_medgen"} ! CASR
relationship: predisposes_towards MONDO:0005579 {source="OMIM:612899"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013033
name: cerebral palsy, spastic quadriplegic, 2
def: "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18309", source="MONDO:GARD"}
subset: rare
synonym: "cerebral palsy, spastic quadriplegic, 2" EXACT [MONDO:Lexical, OMIM:612900]
synonym: "cerebral palsy, spastic quadriplegic, type 2" EXACT [MONDORULE:1, OMIM:612900]
synonym: "CPSQ2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612900]
synonym: "KANK1 spastic quadriplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic quadriplegia caused by mutation in KANK1" EXACT [MONDO:design_pattern]
xref: DOID:0081360 {source="MONDO:equivalentTo"}
xref: GARD:18309 {source="MONDO:GARD"}
xref: MEDGEN:442880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567867 {source="MONDO:equivalentTo"}
xref: OMIM:612900 {source="MONDO:equivalentTo"}
xref: Orphanet:210141 {source="OMIM:612900"}
xref: UMLS:C2752061 {source="MEDGEN:442880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016215 {source="DC-OMIM:612900", source="MONDO:Redundant", source="OMIM:612900"} ! spastic quadriplegic cerebral palsy
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder
intersection_of: MONDO:0016215 ! spastic quadriplegic cerebral palsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19309 ! KANK1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19309 {source="MONDO:mim2gene_medgen"} ! KANK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4768" xsd:anyURI

[Term]
id: MONDO:0013034
name: keratosis palmoplantaris striata 2
def: "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DSP striate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "keratoderma, palmoplantar, striate form 2" RELATED [OMIM:612908]
synonym: "keratosis palmoplantaris striata II" RELATED [MONDO:Lexical, OMIM:612908]
synonym: "keratosis palmoplantaris striata type 2" EXACT [MONDORULE:1, OMIM:612908]
synonym: "PPKS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612908]
synonym: "striate palmoplantar keratoderma 2" RELATED [OMIM:612908]
synonym: "striate palmoplantar keratoderma caused by mutation in DSP" EXACT [MONDO:design_pattern]
xref: DOID:0081109 {source="MONDO:equivalentTo"}
xref: GARD:15590 {source="MONDO:GARD"}
xref: MEDGEN:343725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565102 {source="MONDO:equivalentTo"}
xref: OMIM:612908 {source="MONDO:equivalentTo"}
xref: Orphanet:50942 {source="OMIM:612908"}
xref: UMLS:C1852127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343725"}
is_a: MONDO:0018865 {source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma
intersection_of: MONDO:0018865 ! striate palmoplantar keratoderma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 ! DSP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP

[Term]
id: MONDO:0013035
name: orofaciodigital syndrome XI
def: "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." [Orphanet:141000]
subset: gard_rare {source="GARD:4118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141000"}
subset: ordo_malformation_syndrome {source="Orphanet:141000"}
subset: orphanet_rare {source="Orphanet:141000"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gabrielli syndrome" RELATED [OMIM:612913]
synonym: "OFD syndrome 11" RELATED [GARD:0004118]
synonym: "OFD11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612913, Orphanet:141000]
synonym: "Ofds 11" RELATED [OMIM:612913]
synonym: "oral facial digital syndrome 11" RELATED [GARD:0004118]
synonym: "oral facial digital syndrome type 11" RELATED [GARD:0004118]
synonym: "oral-facial-digital syndrome type 11" EXACT [Orphanet:141000]
synonym: "oral-Facial-digital syndrome with skeletal anomalies" RELATED [OMIM:612913]
synonym: "oral-facial-digital syndrome, Gabrielli type" EXACT [Orphanet:141000]
synonym: "oral-Facial-digital syndrome, type 11" RELATED [OMIM:612913]
synonym: "orofaciodigital syndrome 11" RELATED [GARD:0004118]
synonym: "orofaciodigital syndrome type 11" RELATED [Orphanet:141000]
synonym: "orofaciodigital syndrome type XI" EXACT [DOID:0060381, MONDORULE:3]
synonym: "orofaciodigital syndrome XI" EXACT [MONDO:Lexical, OMIM:612913]
synonym: "orofaciodigital syndrome, Gabrielli type" EXACT [Orphanet:141000]
xref: DOID:0060381 {source="MONDO:equivalentTo"}
xref: GARD:4118 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:141000/attributed", source="Orphanet:141000/ntbt", source="Orphanet:141000"}
xref: MEDGEN:416694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557821 {source="MONDO:equivalentTo", source="DOID:0060381"}
xref: OMIM:612913 {source="Orphanet:141000", source="MONDO:equivalentTo", source="Orphanet:141000/e", source="DOID:0060381"}
xref: Orphanet:141000 {source="MONDO:equivalentTo", source="OMIM:612913", source="DOID:0060381"}
xref: SCTID:718681002 {source="MONDO:equivalentTo"}
xref: UMLS:C2752048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416694"}
is_a: MONDO:0015375 {source="DC-OMIM:612913", source="DOID:0060381", source="MESH:C557821", source="Orphanet:141000"} ! orofaciodigital syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11" xsd:anyURI {source="GARD:0004118"}

[Term]
id: MONDO:0013036
name: Zechi-Ceide syndrome
subset: gard_rare {source="GARD:10582", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:217017"}
subset: ordo_malformation_syndrome {source="Orphanet:217017"}
subset: orphanet_rare {source="Orphanet:217017"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "occipital atretic cephalocele, unusual facies and large feet" RELATED [GARD:0010582]
synonym: "occipital atretic cephalocele, unusual facies, and large feet" RELATED [OMIM:612916]
synonym: "occipital atretic cephalocele-unusual facies-large feet syndrome" EXACT [Orphanet:217017]
synonym: "Zechi Ceide syndrome" RELATED [GARD:0010582]
synonym: "Zechi-Ceide syndrome" EXACT [OMIM:612916]
xref: GARD:10582 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:217017", source="Orphanet:217017/attributed", source="Orphanet:217017/ntbt"}
xref: MEDGEN:416693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567865 {source="MONDO:equivalentTo"}
xref: OMIM:612916 {source="Orphanet:217017", source="MONDO:equivalentTo", source="Orphanet:217017/e"}
xref: Orphanet:217017 {source="MONDO:equivalentTo", source="OMIM:612916"}
xref: UMLS:C2752047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416693"}
is_a: MONDO:0015159 {source="Orphanet:217017"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217017", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome" xsd:anyURI {source="GARD:0010582"}

[Term]
id: MONDO:0013037
name: Giacheti syndrome
synonym: "Giacheti syndrome" EXACT [OMIM:612917]
synonym: "Marfanoid habitus and specific language and learning disabilities" RELATED [OMIM:612917]
xref: MEDGEN:414543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567864 {source="MONDO:equivalentTo"}
xref: OMIM:612917 {source="MONDO:equivalentTo"}
xref: UMLS:C2752043 {source="MEDGEN:414543", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013038
name: CLOVES syndrome
def: "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0009-0001-6494-4831, Orphanet:140944]
subset: gard_rare {source="GARD:10939", source="MONDO:GARD"}
subset: nord_rare {source="NORD:979", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140944"}
subset: ordo_malformation_syndrome {source="Orphanet:140944"}
subset: orphanet_rare {source="Orphanet:140944"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLOVE syndrome" RELATED [OMIM:612918]
synonym: "CLOVE syndrome, somatic" EXACT [OMIM:612918, OMIM:genemap2]
synonym: "CLOVES syndrome" EXACT [OMIM:612918]
synonym: "congenital lipomatous overgrowth - vascular malformation - epidermal nevi" RELATED [GARD:0010939]
synonym: "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi" RELATED [OMIM:612918]
synonym: "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" EXACT [DOID:0080351]
synonym: "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities" RELATED [OMIM:612918]
synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" EXACT [Orphanet:140944]
synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" EXACT [Orphanet:140944]
xref: DOID:0080351 {source="MONDO:equivalentTo"}
xref: GARD:10939 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="DOID:0080351", source="Orphanet:140944/attributed", source="Orphanet:140944/ntbt", source="Orphanet:140944"}
xref: MEDGEN:442876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567863 {source="MONDO:equivalentTo"}
xref: NORD:979 {source="MONDO:NORD"}
xref: OMIM:612918 {source="DOID:0080351", source="Orphanet:140944/e", source="MONDO:equivalentTo", source="Orphanet:140944"}
xref: Orphanet:140944 {source="OMIM:612918", source="DOID:0080351", source="MONDO:equivalentTo"}
xref: SCTID:719475006 {source="MONDO:equivalentTo"}
xref: UMLS:C2752042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442876"}
is_a: MONDO:0002254 {source="DOID:0080351"} ! syndromic disease
is_a: MONDO:0005073 {source="Orphanet:140944"} ! melanocytic nevus
is_a: MONDO:0019296 {source="Orphanet:140944"} ! subcutaneous tissue disorder
is_a: MONDO:1040002 {source="PMID:23592320", source="PMID:23946963", source="PMID:25557259", source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3CA-related overgrowth spectrum
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949", source="MONDO:0017414"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5210" xsd:anyURI

[Term]
id: MONDO:0013039
name: 3M syndrome 2
def: "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "3-M syndrome 2" EXACT [OMIM:612921, OMIM:genemap2]
synonym: "3-M syndrome caused by mutation in OBSL1" EXACT [MONDO:design_pattern]
synonym: "3M syndrome 2" EXACT CLINGEN_LABEL [OMIM:612921]
synonym: "3M2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612921]
synonym: "OBSL1 3-M syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "three M syndrome 2" EXACT [MONDO:Lexical, OMIM:612921]
synonym: "three M syndrome type 2" EXACT [MONDORULE:1, OMIM:612921]
xref: GARD:15591 {source="MONDO:GARD"}
xref: MEDGEN:414168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567862 {source="MONDO:equivalentTo"}
xref: OMIM:612921 {source="MONDO:equivalentTo"}
xref: Orphanet:2616 {source="OMIM:612921"}
xref: UMLS:C2752041 {source="MEDGEN:414168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007477 {source="DC-OMIM:612921", source="MONDO:Redundant", source="OMIM:612921"} ! 3-M syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0007477 ! 3-M syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29092 ! OBSL1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612921"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29092 {source="MONDO:mim2gene_medgen"} ! OBSL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013040
name: atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
subset: gard_rare {source="GARD:18552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93576"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "aHUS with MCP/CD46 anomaly" EXACT [Orphanet:93576]
synonym: "AHUS, susceptibility to, 2" RELATED [OMIM:612922]
synonym: "AHUS2" RELATED ABBREVIATION [OMIM:612922]
synonym: "aHUS2" RELATED [MONDO:Lexical, OMIM:612922]
synonym: "atypical HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576]
synonym: "D-HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:612922]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612922]
synonym: "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" EXACT [Orphanet:93576]
synonym: "hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly" EXACT OMO:0003005 []
synonym: "susceptibility to atypical hemolytic uremic syndrome 2" RELATED [OMIM:612922]
xref: GARD:18552 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:93576", source="Orphanet:93576/attributed", source="Orphanet:93576/ntbt"}
xref: MEDGEN:414167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200803 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612922 {source="MONDO:equivalentTo", source="Orphanet:93576", source="Orphanet:93576/e"}
xref: Orphanet:2134 {source="OMIM:612922"}
xref: Orphanet:93576 {source="MONDO:equivalentObsolete", source="OMIM:612922"}
xref: UMLS:C2752040 {source="MEDGEN:414167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001549 {source="MONDO:0013040/inferred", source="MONDO:Redundant", source="OMIM:612922"} ! hemolytic-uremic syndrome
is_a: MONDO:0016244 {source="Orphanet:93576"} ! atypical hemolytic-uremic syndrome
is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6953 {source="MONDO:mim2gene_medgen"} ! CD46

[Term]
id: MONDO:0013041
name: atypical hemolytic-uremic syndrome with I factor anomaly
subset: gard_rare {source="GARD:18553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93580"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "aHUS with I factor anomaly" EXACT [Orphanet:93580]
synonym: "aHUS, susceptibility to, 3" RELATED [OMIM:612923]
synonym: "AHUS3" RELATED ABBREVIATION [OMIM:612923]
synonym: "aHUS3" RELATED [MONDO:Lexical, OMIM:612923]
synonym: "atypical HUS with I factor anomaly" EXACT [Orphanet:93580]
synonym: "D-HUS with I factor anomaly" EXACT [Orphanet:93580]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:612923]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612923]
synonym: "hemolytic-uremic syndrome without diarrhea with I factor anomaly" EXACT [Orphanet:93580]
synonym: "hemolytic-uremic syndrome without diarrhoea with I factor anomaly" EXACT OMO:0003005 []
synonym: "susceptibility to atypical hemolytic uremic syndrome 3" RELATED [OMIM:612923]
xref: GARD:18553 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:93580/attributed", source="Orphanet:93580/ntbt", source="Orphanet:93580"}
xref: MEDGEN:414542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612923 {source="Orphanet:93580/e", source="MONDO:equivalentTo", source="Orphanet:93580"}
xref: Orphanet:2134 {source="OMIM:612923"}
xref: Orphanet:93580 {source="MONDO:equivalentObsolete", source="OMIM:612923"}
xref: UMLS:C2752039 {source="MEDGEN:414542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001549 {source="MONDO:0013041/inferred", source="MONDO:Redundant", source="OMIM:612923"} ! hemolytic-uremic syndrome
is_a: MONDO:0016244 {source="Orphanet:93580"} ! atypical hemolytic-uremic syndrome
is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5394 {source="MONDO:mim2gene_medgen"} ! CFI

[Term]
id: MONDO:0013042
name: atypical hemolytic-uremic syndrome with B factor anomaly
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18554", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93578"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "aHUS with B factor anomaly" EXACT [Orphanet:93578]
synonym: "aHUS, susceptibility to, 4" RELATED [OMIM:612924]
synonym: "AHUS4" RELATED ABBREVIATION [OMIM:612924]
synonym: "aHUS4" RELATED [MONDO:Lexical, OMIM:612924]
synonym: "atypical HUS with B factor anomaly" EXACT [Orphanet:93578]
synonym: "D-HUS with B factor anomaly" EXACT [Orphanet:93578]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:612924]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612924]
synonym: "hemolytic-uremic syndrome without diarrhea with B factor anomaly" EXACT [Orphanet:93578]
synonym: "hemolytic-uremic syndrome without diarrhoea with B factor anomaly" EXACT OMO:0003005 []
synonym: "susceptibility to atypical hemolytic uremic syndrome 4" RELATED [OMIM:612924]
xref: GARD:18554 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:93578", source="Orphanet:93578/attributed", source="Orphanet:93578/ntbt"}
xref: MEDGEN:416691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612924 {source="MONDO:equivalentTo", source="Orphanet:93578", source="Orphanet:93578/e"}
xref: Orphanet:2134 {source="OMIM:612924"}
xref: Orphanet:93578 {source="MONDO:equivalentObsolete", source="OMIM:612924"}
xref: UMLS:C2752038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416691"}
is_a: MONDO:0001549 {source="MONDO:0013042/inferred", source="MONDO:Redundant", source="OMIM:612924"} ! hemolytic-uremic syndrome
is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1037 {source="MONDO:mim2gene_medgen"} ! CFB

[Term]
id: MONDO:0013043
name: atypical hemolytic-uremic syndrome with C3 anomaly
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93575"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "aHUS with C3 anomaly" EXACT [Orphanet:93575]
synonym: "Ahus, susceptibility to, 5" RELATED [OMIM:612925]
synonym: "AHUS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612925]
synonym: "atypical HUS with C3 anomaly" EXACT [Orphanet:93575]
synonym: "D-HUS with C3 anomaly" EXACT [Orphanet:93575]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:612925]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612925]
synonym: "hemolytic-uremic syndrome without diarrhea with C3 anomaly" EXACT [Orphanet:93575]
synonym: "hemolytic-uremic syndrome without diarrhoea with C3 anomaly" EXACT OMO:0003005 []
synonym: "susceptibility to atypical hemolytic uremic syndrome 5" RELATED [OMIM:612925]
xref: GARD:18555 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:93575/attributed", source="Orphanet:93575/ntbt", source="Orphanet:93575"}
xref: MEDGEN:442875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612925 {source="Orphanet:93575", source="MONDO:equivalentTo", source="Orphanet:93575/e"}
xref: Orphanet:2134 {source="OMIM:612925"}
xref: Orphanet:93575 {source="MONDO:equivalentObsolete", source="OMIM:612925"}
xref: UMLS:C2752037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442875"}
is_a: MONDO:0001549 {source="MONDO:0013043/inferred", source="MONDO:Redundant", source="OMIM:612925"} ! hemolytic-uremic syndrome
is_a: MONDO:0016244 {source="Orphanet:93575"} ! atypical hemolytic-uremic syndrome
is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 {source="MONDO:mim2gene_medgen"} ! C3

[Term]
id: MONDO:0013044
name: atypical hemolytic-uremic syndrome with thrombomodulin anomaly
subset: gard_rare {source="GARD:18556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:217023"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "aHUS with thrombomodulin anomaly" EXACT [Orphanet:217023]
synonym: "Ahus, susceptibility to, 6" RELATED [OMIM:612926]
synonym: "AHUS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612926]
synonym: "atypical HUS with thrombomodulin anomaly" EXACT [Orphanet:217023]
synonym: "D-HUS with thrombomodulin anomaly" EXACT [Orphanet:217023]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:612926]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612926]
synonym: "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" EXACT [Orphanet:217023]
synonym: "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly" EXACT OMO:0003005 []
synonym: "susceptibility to atypical hemolytic uremic syndrome 6" RELATED [OMIM:612926]
xref: GARD:18556 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:217023", source="Orphanet:217023/attributed", source="Orphanet:217023/ntbt"}
xref: MEDGEN:414541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612926 {source="Orphanet:217023/e", source="MONDO:equivalentTo", source="Orphanet:217023"}
xref: Orphanet:2134 {source="OMIM:612926"}
xref: Orphanet:217023 {source="MONDO:equivalentObsolete", source="OMIM:612926"}
xref: UMLS:C2752036 {source="MEDGEN:414541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001549 {source="MONDO:0013044/inferred", source="MONDO:Redundant", source="OMIM:612926"} ! hemolytic-uremic syndrome
is_a: MONDO:0035290 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! atypical hemolytic uremic syndrome with complement gene abnormality
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11784 {source="MONDO:mim2gene_medgen"} ! THBD

[Term]
id: MONDO:0013045
name: Mycobacterium tuberculosis, susceptibility to, 3
subset: predisposition
synonym: "MTBS3" RELATED ABBREVIATION [OMIM:612929]
synonym: "Mycobacterium tuberculosis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612929]
xref: MEDGEN:416690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612929 {source="MONDO:equivalentTo"}
xref: UMLS:C2752035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416690"}
is_a: MONDO:0000070 {source="DC-OMIM:612929"} ! Mycobacterium tuberculosis, susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0013046
name: glycogen storage disease due to muscle beta-enolase deficiency
def: "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." [Orphanet:99849]
subset: gard_rare {source="GARD:2125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99849"}
subset: orphanet_rare {source="Orphanet:99849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "enolase 3 deficiency" RELATED [OMIM:612932]
synonym: "enolase-Beta deficiency" RELATED [OMIM:612932]
synonym: "glycogen storage disease 13" RELATED [GARD:0002125, OMIM:612932]
synonym: "glycogen storage disease due to muscle beta-enolase deficiency" EXACT CLINGEN_LABEL []
synonym: "glycogen storage disease type 13" EXACT [MONDORULE:2, OMIM:612932]
synonym: "glycogen storage disease XIII" RELATED [MONDO:Lexical, OMIM:612932]
synonym: "glycogenosis due to muscle beta-enolase deficiency" EXACT [Orphanet:99849]
synonym: "glycogenosis type 13" EXACT [Orphanet:99849]
synonym: "GSD 13" RELATED [OMIM:612932]
synonym: "GSD due to muscle beta-enolase deficiency" EXACT [Orphanet:99849]
synonym: "GSD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612932]
synonym: "GSDXIII" EXACT ABBREVIATION [Orphanet:99849]
synonym: "muscle enolase deficiency" EXACT [Orphanet:99849]
synonym: "muscular enolase deficiency" EXACT [Orphanet:99849]
xref: GARD:2125 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:99849", source="Orphanet:99849/attributed", source="Orphanet:99849/ntbt"}
xref: MEDGEN:442873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567861 {source="MONDO:equivalentTo"}
xref: NANDO:1200835 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612932 {source="MONDO:equivalentTo", source="Orphanet:99849", source="Orphanet:99849/e"}
xref: Orphanet:99849 {source="MONDO:equivalentTo", source="OMIM:612932"}
xref: UMLS:C2752027 {source="MEDGEN:442873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="DC-OMIM:612932", source="MESH:C567861", source="Orphanet:99849"} ! disorder of glycogen metabolism
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:99849", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3354 {source="MONDO:mim2gene_medgen"} ! ENO3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0013047
name: glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." [GARD:0003160]
subset: gard_rare {source="GARD:3160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:284426"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease caused by mutation in LDHA" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [MONDORULE:2, OMIM:612933, Orphanet:284426]
synonym: "glycogen storage disease XI" RELATED AMBIGUOUS [GARD:0003160, MESH:C538133, OMIM:612933]
synonym: "glycogenosis due to lactate dehydrogenase M-subunit deficiency" EXACT [Orphanet:284426]
synonym: "glycogenosis type 11" RELATED AMBIGUOUS [Orphanet:284426]
synonym: "GSD 11" RELATED AMBIGUOUS [OMIM:612933]
synonym: "GSD due to lactate dehydrogenase M-subunit deficiency" EXACT [Orphanet:284426]
synonym: "GSD type 11" RELATED AMBIGUOUS [Orphanet:284426]
synonym: "GSD XI" RELATED [MESH:C538133]
synonym: "GSD11" RELATED AMBIGUOUS [MESH:C538133, OMIM:612933]
synonym: "lactate dehydrogenase A deficiency" EXACT [MESH:C538133, OMIM:612933, Orphanet:284426]
synonym: "lactate dehydrogenase deficiency type A" RELATED [GARD:0003160]
synonym: "LDH-M subunit deficiency" EXACT [Orphanet:284426]
synonym: "LDHA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:3160 {source="MONDO:GARD"}
xref: HGNC:6535 {source="GARD:0003160"}
xref: ICD10CM:E74.0 {source="Orphanet:284426/attributed", source="Orphanet:284426/ntbt", source="Orphanet:284426"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:419152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538133 {source="MONDO:equivalentTo"}
xref: NANDO:1200833 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612933 {source="Orphanet:284426/e", source="MONDO:equivalentTo", source="Orphanet:284426"}
xref: Orphanet:2364 {source="OMIM:612933"}
xref: Orphanet:284426 {source="MONDO:equivalentTo", source="OMIM:612933"}
xref: SCTID:237982007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931743 {source="MEDGEN:419152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="MESH:C538133", source="MONDO:Redundant", source="Orphanet:284426/inferred"} ! disorder of glycogen metabolism
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6535 {source="MONDO:mim2gene_medgen"} ! LDHA
relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:284426", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis
relationship: excluded_subClassOf MONDO:0016527 {source="Orphanet:284426", source="https://orcid.org/0000-0001-5208-3432"} ! glycogen storage disease due to lactate dehydrogenase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6535 {source="MONDO:mim2gene_medgen"} ! LDHA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency" xsd:anyURI {source="GARD:0003160"}

[Term]
id: MONDO:0013048
name: hereditary spastic paraplegia 50
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AP4M1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spastic paraplegia 50" EXACT [DOID:0110802]
synonym: "cerebral palsy, spastic quadriplegic, 3" RELATED [OMIM:612936]
synonym: "cerebral palsy, spastic quadriplegic, 3, formerly" RELATED [OMIM:612936]
synonym: "CPSQ3" RELATED EXCLUDE [DOID:0110802]
synonym: "hereditary spastic paraplegia caused by mutation in AP4M1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 50" EXACT [DOID:0110802, MONDORULE:2]
synonym: "Spastic Paraplegia 50" EXACT [NORD:1989]
synonym: "spastic paraplegia 50, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612936]
synonym: "SPG50" EXACT ABBREVIATION [DOID:0110802, MONDO:Lexical, OMIM:612936]
xref: DOID:0110802 {source="MONDO:equivalentTo"}
xref: GARD:15592 {source="MONDO:GARD"}
xref: MEDGEN:442869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567858 {source="MONDO:equivalentTo"}
xref: NORD:1989 {source="MONDO:NORD"}
xref: OMIM:612936 {source="DOID:0110802", source="MONDO:equivalentTo"}
xref: Orphanet:280763 {source="DOID:0110802", source="OMIM:612936"}
xref: UMLS:C2752008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442869"}
is_a: MONDO:0019064 {source="DOID:0110802", source="MESH:C567858", source="MONDO:Redundant", source="OMIM:612936"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/574 ! AP4M1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/574 {source="MONDO:mim2gene_medgen"} ! AP4M1

[Term]
id: MONDO:0013049
name: DPM3-congenital disorder of glycosylation
def: "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy." [Orphanet:263494]
subset: gard_rare {source="GARD:12395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263494"}
subset: orphanet_rare {source="Orphanet:263494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type Io" EXACT [Orphanet:263494]
synonym: "CDG Io" RELATED [OMIM:612937]
synonym: "CDG syndrome type Io" EXACT [Orphanet:263494]
synonym: "CDG-Io" EXACT [Orphanet:263494]
synonym: "Cdg1(Dpm3)" RELATED [OMIM:612937]
synonym: "CDG1O" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612937, Orphanet:263494]
synonym: "CDGIo" RELATED [GARD:0012395]
synonym: "congenital disorder of glycosylation type 1o" EXACT [Orphanet:263494]
synonym: "congenital disorder of glycosylation type Io" EXACT [Orphanet:263494]
synonym: "congenital disorder of glycosylation, type Io" RELATED [MONDO:Lexical, OMIM:612937]
synonym: "DG1O" RELATED ABBREVIATION [GARD:0012395]
synonym: "DPM3-CDG" EXACT ABBREVIATION [Orphanet:263494]
synonym: "DPM3-CDG (CDG-Io)" RELATED [GARD:0012395]
synonym: "DPM3-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" EXACT [OMIM:612937, OMIM:genemap2]
xref: GARD:12395 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:263494/attributed", source="Orphanet:263494/ntbt", source="Orphanet:263494"}
xref: MEDGEN:414534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567857 {source="MONDO:equivalentTo"}
xref: OMIM:612937 {source="Orphanet:263494", source="MONDO:equivalentTo", source="Orphanet:263494/e"}
xref: Orphanet:263494 {source="MONDO:equivalentTo", source="OMIM:612937"}
xref: SCTID:725044000 {source="MONDO:equivalentTo"}
xref: UMLS:C2752007 {source="MEDGEN:414534", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005500 {source="DC-OMIM:612937"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C567857", source="MONDO:0013049/inferred", source="MONDO:Redundant", source="OMIM:612937", source="Orphanet:263494/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017749 {source="Orphanet:263494"} ! disorder of multiple glycosylation
is_a: MONDO:0018276 {source="Orphanet:263494"} ! muscular dystrophy-dystroglycanopathy
relationship: excluded_subClassOf MONDO:0016333 {source="https://orcid.org/0000-0001-5208-3432"} ! familial dilated cardiomyopathy
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3007 {source="MONDO:mim2gene_medgen"} ! DPM3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013050
name: lethal polymalformative syndrome, Boissel type
subset: gard_rare {source="GARD:17110", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210144"}
subset: ordo_malformation_syndrome {source="Orphanet:210144"}
subset: orphanet_rare {source="Orphanet:210144"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GDFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612938]
synonym: "growth retardation, developmental delay, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:612938]
synonym: "growth retardation, developmental delay, facial dysmorphism" EXACT [OMIM:612938, OMIM:genemap2]
xref: GARD:17110 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:210144/attributed", source="Orphanet:210144/ntbt", source="Orphanet:210144"}
xref: MEDGEN:414158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567856 {source="MONDO:equivalentTo"}
xref: OMIM:612938 {source="Orphanet:210144", source="MONDO:equivalentTo", source="Orphanet:210144/e"}
xref: Orphanet:210144 {source="MONDO:equivalentTo", source="OMIM:612938"}
xref: UMLS:C2752001 {source="MEDGEN:414158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="Orphanet:210144", source="Orphanet:210144/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0043009 {source="Orphanet:210144"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24678 {source="MONDO:mim2gene_medgen"} ! FTO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013051
name: autosomal recessive cutis laxa type 2B
def: "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." [Orphanet:357064]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357064"}
subset: orphanet_rare {source="Orphanet:357064"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCL2, progeroid type" EXACT [DOID:0070137, Orphanet:357064]
synonym: "ARCL2B" EXACT ABBREVIATION [DOID:0070137, MONDO:Lexical, OMIM:612940, Orphanet:357064]
synonym: "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive cutis laxa type 2, progeroid type" EXACT [Orphanet:357064]
synonym: "autosomal recessive cutis laxa type 2B" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive cutis laxa type IIB" RELATED [DOID:0070137]
synonym: "cutis laxa with progeroid features" RELATED [OMIM:612940]
synonym: "cutis laxa, autosomal recessive type 2B" RELATED [GARD:0001641]
synonym: "cutis laxa, autosomal recessive, type 2B" RELATED [OMIM:612940]
synonym: "cutis laxa, autosomal recessive, type IIB" RELATED [MONDO:Lexical, OMIM:612940]
synonym: "PYCR1 autosomal recessive cutis laxa type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070137 {source="MONDO:equivalentTo"}
xref: GARD:1641 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070137", source="Orphanet:357064", source="Orphanet:357064/attributed", source="Orphanet:357064/ntbt"}
xref: MEDGEN:414526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567855 {source="MONDO:equivalentTo"}
xref: OMIM:612940 {source="Orphanet:357064/e", source="DOID:0070137", source="MONDO:equivalentTo", source="Orphanet:357064"}
xref: Orphanet:357064 {source="OMIM:612940", source="DOID:0070137", source="MONDO:equivalentTo"}
xref: UMLS:C2751987 {source="MEDGEN:414526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019573 {source="MONDO:Redundant", source="Orphanet:357064"} ! autosomal recessive cutis laxa type 2
is_a: MONDO:0100237 {source="DOID:0070137", source="MESH:C567855", source="MONDO:Redundant", source="OMIM:612940", source="Orphanet:357064/inferred"} ! inherited cutis laxa
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019573 ! autosomal recessive cutis laxa type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9721 ! PYCR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9721 {source="MONDO:mim2gene_medgen"} ! PYCR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b" xsd:anyURI {source="GARD:0001641"}

[Term]
id: MONDO:0013052
name: retinitis pigmentosa 42
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KLHL7 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 42" EXACT [MONDO:Lexical, OMIM:612943]
synonym: "retinitis pigmentosa caused by mutation in KLHL7" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 42" EXACT [DOID:0110386, MONDORULE:2, OMIM:612943]
synonym: "RP42" EXACT ABBREVIATION [DOID:0110386, MONDO:Lexical, OMIM:612943]
xref: DOID:0110386 {source="MONDO:equivalentTo"}
xref: GARD:15593 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110386"}
xref: MEDGEN:442864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567854 {source="MONDO:equivalentTo"}
xref: OMIM:612943 {source="MONDO:equivalentTo", source="DOID:0110386"}
xref: UMLS:C2751986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442864"}
is_a: MONDO:0019200 {source="DC-OMIM:612943", source="DOID:0110386", source="MESH:C567854", source="MONDO:Redundant", source="OMIM:612943"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 ! KLHL7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 {source="MONDO:mim2gene_medgen"} ! KLHL7

[Term]
id: MONDO:0013053
name: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
def: "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." [Orphanet:217026]
subset: gard_rare {source="GARD:17116", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217026"}
subset: ordo_malformation_syndrome {source="Orphanet:217026"}
subset: orphanet_rare {source="Orphanet:217026"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hadziselimovic syndrome" EXACT [OMIM:612946, Orphanet:217026]
synonym: "microcephaly-faciocardioskeletal syndrome" EXACT [OMIM:612946, Orphanet:217026]
xref: GARD:17116 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:217026/attributed", source="Orphanet:217026/ntbt", source="Orphanet:217026"}
xref: MEDGEN:414129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567850 {source="MONDO:equivalentTo"}
xref: OMIM:612946 {source="Orphanet:217026/e", source="MONDO:equivalentTo", source="Orphanet:217026"}
xref: Orphanet:217026 {source="MONDO:equivalentTo", source="OMIM:612946"}
xref: SCTID:719395001 {source="MONDO:equivalentTo"}
xref: UMLS:C2751878 {source="MONDO:equivalentTo", source="MEDGEN:414129", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015161 {source="Orphanet:217026"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:217026", source="Orphanet:217026/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0013054
name: microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
synonym: "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" EXACT [OMIM:612947]
xref: MEDGEN:416652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567849 {source="MONDO:equivalentTo"}
xref: OMIM:612947 {source="MONDO:equivalentTo"}
xref: UMLS:C2751870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416652"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013055
name: Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features
synonym: "Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features" RELATED [GARD:0010683]
synonym: "Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features" RELATED DEPRECATED [GARD:0010683]
synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features" EXACT [OMIM:612948]
synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features" EXACT DEPRECATED [OMIM:612948]
xref: MEDGEN:1680314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548086 {source="MONDO:equivalentTo"}
xref: OMIM:612948 {source="MONDO:equivalentTo"}
xref: UMLS:C5193232 {source="MEDGEN:1680314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10683/stargardt-macular-degeneration-absent-or-hypoplastic-corpus-callosum-mental-retardation-and-dysmorphic-features" xsd:anyURI {source="GARD:0010683"}

[Term]
id: MONDO:0013056
name: developmental and epileptic encephalopathy, 39
def: "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." [Orphanet:353217]
subset: gard_rare {source="GARD:17532", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:353217"}
subset: orphanet_rare {source="Orphanet:353217"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGC1 deficiency" EXACT [DOID:0080349]
synonym: "aspartate-glutamate carrier 1 deficiency" RELATED [OMIM:612949]
synonym: "DEE39" EXACT ABBREVIATION [OMIM:612949]
synonym: "developmental and epileptic encephalopathy 39" EXACT [OMIM:612949, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A12" EXACT [Orphanet:353217]
synonym: "EIEE39" EXACT ABBREVIATION [OMIM:612949]
synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT [DOID:0080349]
synonym: "epileptic encephalopathy, early infantile, 39" EXACT [OMIM:612949]
synonym: "hypomyelination, global cerebral" RELATED [OMIM:612949]
synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [DOID:0080349, Orphanet:353217]
synonym: "SLC25A12 early infantile epileptic encephalopathy" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0080349 {source="MONDO:equivalentTo"}
xref: GARD:17532 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:353217", source="Orphanet:353217/attributed", source="Orphanet:353217/ntbt"}
xref: MEDGEN:414492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567847 {source="MONDO:equivalentTo"}
xref: OMIM:612949 {source="MONDO:equivalentTo", source="Orphanet:353217", source="DOID:0080349", source="Orphanet:353217/e"}
xref: Orphanet:353217 {source="MONDO:equivalentTo", source="DOID:0080349", source="OMIM:612949"}
xref: SCTID:726702005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414492"}
is_a: MONDO:0016801 {source="Orphanet:353217"} ! mitochondrial substrate carrier disorder
is_a: MONDO:0020070 {source="MONDO:Redundant", source="Orphanet:353217"} ! neonatal epilepsy syndrome
is_a: MONDO:0100062 {source="DOID:0080349", source="OMIM:612949"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10982 ! SLC25A12
relationship: has_characteristic HP:0003623 {source="Orphanet:353217"} ! Neonatal onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10982 {source="MONDO:mim2gene_medgen"} ! SLC25A12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013057
name: psoriasis 12, susceptibility to
synonym: "psoriasis 12, susceptibility to" EXACT [MONDO:Lexical, OMIM:612950]
synonym: "psoriasis susceptibility 12" EXACT [OMIM:612950, OMIM:genemap2]
synonym: "PSORS12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612950]
xref: DOID:0111291 {source="MONDO:equivalentTo"}
xref: MEDGEN:414124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612950 {source="MONDO:equivalentTo"}
xref: UMLS:C2751854 {source="MEDGEN:414124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:612950"} ! psoriasis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005083 {source="DC-OMIM:612950", source="OMIM:612950"} ! psoriasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013058
name: cystic leukoencephalopathy without megalencephaly
def: "Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." [Orphanet:85136]
subset: gard_rare {source="GARD:13199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85136"}
subset: orphanet_rare {source="Orphanet:85136"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLWM" EXACT ABBREVIATION [Orphanet:85136]
synonym: "leukoencephalopathy, cystic, without megalencephaly" RELATED [OMIM:612951]
synonym: "RNAse T2-deficient leukoencephalopathy" RELATED [GARD:0013199]
xref: DOID:0081007 {source="MONDO:equivalentTo"}
xref: GARD:13199 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:85136", source="Orphanet:85136/attributed", source="Orphanet:85136/ntbt"}
xref: MEDGEN:416646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567845 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"}
xref: OMIM:612951 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"}
xref: Orphanet:85136 {source="OMIM:612951", source="MONDO:equivalentTo"}
xref: SCTID:720825005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751843 {source="MEDGEN:416646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="Orphanet:85136"} ! leukodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21686 {source="MONDO:mim2gene_medgen"} ! RNASET2

[Term]
id: MONDO:0013059
name: Aicardi-Goutieres syndrome 5
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612952]
synonym: "Aicardi-Goutieres syndrome 5" EXACT [MONDO:Lexical, OMIM:612952]
synonym: "Aicardi-Goutieres syndrome caused by mutation in SAMHD1" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 5" EXACT [MONDORULE:1, OMIM:612952]
synonym: "SAMHD1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SAMHD1-related Aicardi-Goutieres syndrome" RELATED [GARD:0010151]
xref: GARD:10151 {source="MONDO:GARD"}
xref: MEDGEN:413116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535608 {source="MONDO:equivalentTo"}
xref: NANDO:2200897 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C168564 {source="MONDO:equivalentTo"}
xref: OMIM:612952 {source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="OMIM:612952"}
xref: UMLS:C2749659 {source="MEDGEN:413116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018866 {source="DC-OMIM:612952", source="MONDO:Redundant", source="OMIM:612952"} ! Aicardi-Goutieres syndrome
is_a: MONDO:0700260 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! SAMHD1-related type 1 interferonopathy
intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 ! SAMHD1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:612952"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 {source="MONDO:mim2gene_medgen"} ! SAMHD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0013060
name: autosomal recessive Parkinson disease 14
def: "A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." [Orphanet:199351]
subset: gard_rare {source="GARD:12568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199351"}
subset: orphanet_rare {source="Orphanet:199351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset dystonia - parkinsonism" RELATED [Orphanet:199351]
synonym: "autosomal recessive Parkinson disease type 14" EXACT [DOID:0060900, MONDORULE:2]
synonym: "autosomal recessive Parkinson's disease 14" RELATED [DOID:0060900]
synonym: "dystonia-Parkinsonism Adult-onset" EXACT [DOID:0060900]
synonym: "dystonia-Parkinsonism, adult-onset" RELATED [OMIM:612953]
synonym: "dystonia-parkinsonism, Paisan-Ruiz type" EXACT [Orphanet:199351]
synonym: "hereditary late onset Parkinson disease caused by mutation in PLA2G6" EXACT [MONDO:design_pattern]
synonym: "PARK14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612953, Orphanet:199351]
synonym: "Parkinson disease 14, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612953]
synonym: "PLA2G6 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PLA2G6-related dystonia-parkinsonism" EXACT [Orphanet:199351]
xref: DOID:0060900 {source="MONDO:equivalentTo"}
xref: GARD:12568 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:199351", source="Orphanet:199351/attributed", source="Orphanet:199351/ntbt"}
xref: MEDGEN:414488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567844 {source="MONDO:equivalentTo"}
xref: OMIM:612953 {source="Orphanet:199351", source="MONDO:equivalentTo", source="Orphanet:199351/e", source="DOID:0060900"}
xref: Orphanet:199351 {source="MONDO:equivalentTo", source="OMIM:612953"}
xref: SCTID:720466001 {source="MONDO:equivalentTo"}
xref: UMLS:C2751842 {source="MEDGEN:414488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DOID:0060900/inferred", source="MONDO:Redundant", source="OMIM:612953"} ! Parkinson disease
is_a: MONDO:0008199 {source="DOID:0060900", source="MONDO:Redundant", source="Orphanet:411602"} ! late-onset Parkinson disease
is_a: MONDO:0017998 {source="Orphanet:199351", source="https://orcid.org/0000-0001-5208-3432"} ! PLA2G6-associated neurodegeneration
intersection_of: MONDO:0008199 ! late-onset Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 ! PLA2G6
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0018329 {source="Orphanet:199351", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete persistent combined dystonia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 {source="MONDO:mim2gene_medgen"} ! PLA2G6

[Term]
id: MONDO:0013061
name: myofibrillar myopathy 6
def: "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." [Orphanet:199340]
subset: gard_rare {source="GARD:17096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199340"}
subset: orphanet_rare {source="Orphanet:199340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BAG3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "BAG3-related myofibrillar myopathy" RELATED [DOID:0080097]
synonym: "MFM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612954]
synonym: "muscular dystrophy, Selcen type" RELATED [Orphanet:199340]
synonym: "myofibrillar myopathy (disease) caused by mutation in BAG3" EXACT []
synonym: "myofibrillar myopathy 6" EXACT CLINGEN_LABEL []
synonym: "myofibrillar myopathy type 6" EXACT [DOID:0080097, MONDORULE:1]
synonym: "myopathy, myofibrillar, 6" RELATED [MONDO:Lexical, OMIM:612954]
synonym: "myopathy, myofibrillar, Bag3-related" RELATED [OMIM:612954]
synonym: "myopathy, myofibrillar, type 6" EXACT [MONDORULE:1, OMIM:612954]
xref: DOID:0080097 {source="MONDO:equivalentTo"}
xref: GARD:17096 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:199340", source="Orphanet:199340/attributed", source="Orphanet:199340/ntbt"}
xref: MEDGEN:414119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567843 {source="MONDO:equivalentTo"}
xref: OMIM:612954 {source="DOID:0080097", source="Orphanet:199340", source="MONDO:equivalentTo", source="Orphanet:199340/e"}
xref: Orphanet:199340 {source="MONDO:equivalentTo", source="OMIM:612954"}
xref: UMLS:C2751831 {source="MEDGEN:414119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:0080097", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:612954", source="Orphanet:199340"} ! myofibrillar myopathy
intersection_of: MONDO:0018943 ! myofibrillar myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/939 ! BAG3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/939 {source="MONDO:mim2gene_medgen"} ! BAG3

[Term]
id: MONDO:0013062
name: long QT syndrome 12
def: "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "long QT syndrome 12" EXACT [MONDO:Lexical, OMIM:612955]
synonym: "long QT syndrome caused by mutation in SNTA1" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 12" EXACT [DOID:0110653, MONDORULE:2, OMIM:612955]
synonym: "LQT12" EXACT ABBREVIATION [DOID:0110653, MONDO:Lexical, OMIM:612955]
synonym: "SNTA1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110653 {source="MONDO:equivalentTo"}
xref: GARD:15595 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="DOID:0110653"}
xref: MEDGEN:442824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567842 {source="MONDO:equivalentTo"}
xref: OMIM:612955 {source="MONDO:equivalentTo", source="DOID:0110653"}
xref: Orphanet:101016 {source="OMIM:612955", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:612955"}
xref: UMLS:C2751830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442824"}
is_a: MONDO:0019171 {source="OMIM:612955", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11167 ! SNTA1
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110653", source="MESH:C567842", source="OMIM:612955", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11167 {source="MONDO:mim2gene_medgen"} ! SNTA1

[Term]
id: MONDO:0013063
name: ventricular fibrillation, paroxysmal familial, 2
def: "Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15596", source="MONDO:GARD"}
subset: rare
synonym: "DPP6 ventricular fibrillation (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ventricular fibrillation (disease) caused by mutation in DPP6" EXACT []
synonym: "ventricular fibrillation, paroxysmal familial, 2" EXACT [MONDO:Lexical, OMIM:612956]
synonym: "ventricular fibrillation, paroxysmal familial, type 2" EXACT [MONDORULE:1, OMIM:612956]
synonym: "VF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612956]
xref: GARD:15596 {source="MONDO:GARD"}
xref: MEDGEN:442823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567841 {source="MONDO:equivalentTo"}
xref: OMIM:612956 {source="MONDO:equivalentTo"}
xref: Orphanet:228140 {source="OMIM:612956"}
xref: UMLS:C2751829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442823"}
is_a: MONDO:0100234 {source="MESH:C567841", source="MONDO:Redundant", source="MONDO:indirect"} ! paroxysmal familial ventricular fibrillation
intersection_of: MONDO:0100234 ! paroxysmal familial ventricular fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3010 ! DPP6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3010 {source="MONDO:mim2gene_medgen"} ! DPP6

[Term]
id: MONDO:0013064
name: multiple synostoses syndrome 3
def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FGF9 multiple synostoses syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple synostoses syndrome 3" EXACT [MONDO:Lexical, OMIM:612961]
synonym: "multiple synostoses syndrome caused by mutation in FGF9" EXACT [MONDO:design_pattern]
synonym: "multiple synostoses syndrome type 3" EXACT [MONDORULE:1, OMIM:612961]
synonym: "SYNS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612961]
xref: DOID:0081319 {source="MONDO:equivalentTo"}
xref: GARD:15597 {source="MONDO:GARD"}
xref: MEDGEN:414116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567839 {source="MONDO:equivalentTo"}
xref: OMIM:612961 {source="MONDO:equivalentTo"}
xref: Orphanet:3237 {source="OMIM:612961"}
xref: UMLS:C2751826 {source="MEDGEN:414116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017923 {source="DC-OMIM:612961", source="MONDO:Redundant", source="OMIM:612961"} ! multiple synostoses syndrome
intersection_of: MONDO:0017923 ! multiple synostoses syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3687 ! FGF9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3687 {source="MONDO:mim2gene_medgen"} ! FGF9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013065
name: premature ovarian failure 7
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adrenal insufficiency, Nr5A1-related" RELATED [OMIM:612964]
synonym: "adrenocortical insufficiency" BROAD [OMIM:612964, OMIM:genemap2]
synonym: "NR5A1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pof7" RELATED [MONDO:Lexical, OMIM:612964]
synonym: "premature ovarian failure 7" EXACT [MONDO:Lexical, OMIM:612964]
synonym: "premature ovarian failure type 7" EXACT [MONDORULE:1, OMIM:612964]
synonym: "primary ovarian failure caused by mutation in NR5A1" EXACT [MONDO:design_pattern]
xref: DOID:0080864 {source="MONDO:equivalentTo"}
xref: MEDGEN:414115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567838 {source="MONDO:equivalentTo"}
xref: OMIM:612964 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:612964"}
xref: UMLS:C2751825 {source="MEDGEN:414115", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:612964", source="MESH:C567838", source="OMIM:612964"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 ! NR5A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013066
name: 46,XY sex reversal 3
subset: gard_rare {source="GARD:15598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure" RELATED [OMIM:612965]
synonym: "46,XY SEX reversal 3" RELATED [OMIM:612965]
synonym: "46,XY sex reversal 3" EXACT [MONDO:Lexical, OMIM:612965]
synonym: "46,XY Sex reversal type 3" EXACT [MONDORULE:1, OMIM:612965]
synonym: "46,XY Sex reversal, partial or complete, Nr5A1-related" RELATED [OMIM:612965]
synonym: "46XY sex reversal 3" EXACT [OMIM:612965, OMIM:genemap2]
synonym: "disorder of Sex development, 46,XY, Nr5A1-related" RELATED [OMIM:612965]
synonym: "Sex reversal, XY, with or without adrenal failure" RELATED [OMIM:612965]
synonym: "SRXY3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612965]
xref: DOID:0111772 {source="MONDO:equivalentTo"}
xref: GARD:15598 {source="MONDO:GARD"}
xref: MEDGEN:483746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200405 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:612965 {source="MONDO:equivalentTo"}
xref: Orphanet:242 {source="OMIM:612965"}
xref: Orphanet:251510 {source="OMIM:612965"}
xref: UMLS:C3489793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483746"}
is_a: MONDO:0010765 {source="OMIM:612965", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013067
name: cataract 34 multiple types
def: "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15599", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive congenital cataract 3" EXACT [DOID:0110230]
synonym: "cataract (disease) caused by mutation in FOXE3" EXACT []
synonym: "cataract 34 multiple types with or without microcornea" EXACT [DOID:0110230]
synonym: "cataract 34, multiple types" RELATED [MONDO:Lexical, OMIM:612968]
synonym: "cataract 34, multiple types, with or without microcornea" RELATED [OMIM:612968]
synonym: "cataract, autosomal recessive congenital 3" RELATED [OMIM:612968]
synonym: "CATC3" EXACT ABBREVIATION [DOID:0110230]
synonym: "CTRCT34" EXACT ABBREVIATION [DOID:0110230, MONDO:Lexical, OMIM:612968]
synonym: "FOXE3 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110230 {source="MONDO:equivalentTo"}
xref: GARD:15599 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110230"}
xref: MEDGEN:442822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567835 {source="MONDO:equivalentTo"}
xref: OMIM:612968 {source="MONDO:equivalentTo", source="DOID:0110230"}
xref: Orphanet:91492 {source="MONDO:relatedTo", source="OMIM:612968"}
xref: Orphanet:98993 {source="MONDO:relatedTo", source="OMIM:612968"}
xref: UMLS:C2751822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442822"}
is_a: MONDO:0005129 {source="DOID:0110230", source="MESH:C567835", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:612968"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3808 ! FOXE3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3808 {source="MONDO:mim2gene_medgen"} ! FOXE3

[Term]
id: MONDO:0013068
name: age-related hearing impairment 2
synonym: "age-related hearing impairment 2" EXACT [MONDO:Lexical, OMIM:612976]
synonym: "ARHI2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612976]
synonym: "presbycusis 2" RELATED [OMIM:612976]
xref: MEDGEN:416639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567834 {source="MONDO:equivalentTo"}
xref: OMIM:612976 {source="MONDO:equivalentTo"}
xref: UMLS:C2751814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416639"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0043765 {source="DC-OMIM:612976", source="https://orcid.org/0000-0001-5208-3432"} ! presbycusis

[Term]
id: MONDO:0013069
name: autosomal recessive optic atrophy, OPA7 type
subset: gard_rare {source="GARD:17143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:227976"}
subset: orphanet_rare {source="Orphanet:227976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OPA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612989]
synonym: "optic atrophy 7" EXACT [OMIM:612989, OMIM:genemap2]
synonym: "optic atrophy 7 with or without auditory neuropathy" RELATED [MONDO:Lexical, OMIM:612989]
xref: DOID:0111437 {source="MONDO:equivalentTo"}
xref: GARD:17143 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:227976", source="Orphanet:227976/attributed", source="Orphanet:227976/ntbt"}
xref: MEDGEN:414112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567833 {source="MONDO:equivalentTo"}
xref: OMIM:612989 {source="Orphanet:227976", source="MONDO:equivalentTo", source="Orphanet:227976/e"}
xref: Orphanet:227976 {source="MONDO:equivalentTo", source="OMIM:612989"}
xref: UMLS:C2751812 {source="MEDGEN:414112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0043878 {source="DC-OMIM:612989", source="MESH:C567833/inferred", source="OMIM:612989"} ! hereditary optic atrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25382 {source="MONDO:mim2gene_medgen"} ! TMEM126A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013070
name: spermatogenic failure 7
subset: gard_rare {source="GARD:18400", source="MONDO:GARD"}
subset: rare
synonym: "Male infertility, nonsyndromic, autosomal recessive" RELATED [OMIM:612997]
synonym: "spermatogenic failure 7" EXACT [MONDO:Lexical, OMIM:612997]
synonym: "spermatogenic failure type 7" EXACT [MONDORULE:1, OMIM:612997]
synonym: "SPGF7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612997]
xref: DOID:0070173 {source="MONDO:equivalentTo"}
xref: GARD:18400 {source="MONDO:GARD"}
xref: MEDGEN:414478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567832 {source="MONDO:equivalentTo"}
xref: OMIM:612997 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:612997"}
xref: UMLS:C2751811 {source="MEDGEN:414478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:612997", source="OMIM:612997"} ! spermatogenic failure

[Term]
id: MONDO:0013071
name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1" EXACT [MONDO:design_pattern]
synonym: "EDMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612998]
synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" RELATED [OMIM:612998]
synonym: "EMERY-Dreifuss muscular dystrophy 4, autosomal dominant" RELATED [OMIM:612998]
synonym: "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612998]
synonym: "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070249 {source="MONDO:equivalentTo"}
xref: GARD:18206 {source="MONDO:GARD"}
xref: MEDGEN:414476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567831 {source="MONDO:equivalentTo"}
xref: OMIM:612998 {source="MONDO:equivalentTo"}
xref: Orphanet:261 {source="OMIM:612998"}
xref: Orphanet:98853 {source="OMIM:612998"}
xref: UMLS:C2751807 {source="MEDGEN:414476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016830 {source="MESH:C567831", source="MONDO:Redundant", source="OMIM:612998"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy
intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 ! SYNE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 {source="MONDO:mim2gene_medgen"} ! SYNE1

[Term]
id: MONDO:0013072
name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant
def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2" EXACT [MONDO:design_pattern]
synonym: "EDMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612999]
synonym: "EMERY-Dreifuss muscular dystrophy 5, autosomal dominant" RELATED [OMIM:612999]
synonym: "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612999]
synonym: "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070250 {source="MONDO:equivalentTo"}
xref: GARD:18207 {source="MONDO:GARD"}
xref: MEDGEN:414111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612999 {source="MONDO:equivalentTo"}
xref: Orphanet:261 {source="OMIM:612999"}
xref: Orphanet:98853 {source="OMIM:612999"}
xref: UMLS:C2751805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414111"}
is_a: MONDO:0016830 {source="MONDO:Redundant", source="OMIM:612999"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy
intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17084 ! SYNE2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17084 {source="MONDO:mim2gene_medgen"} ! SYNE2

[Term]
id: MONDO:0013073
name: palmoplantar keratoderma, nonepidermolytic, focal 1
def: "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FNEPPK1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613000]
synonym: "focal nonepidermolytic palmoplantar keratoderma" RELATED [OMIM:613000]
synonym: "keratoderma, focal nonepidermolytic palmoplantar" RELATED [OMIM:613000]
synonym: "KRT16 nonepidermolytic palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16" EXACT [MONDO:design_pattern]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal" EXACT [OMIM:613000, OMIM:genemap2]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal 1" EXACT [MONDO:Lexical, OMIM:613000]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 1" EXACT [MONDORULE:1, OMIM:613000]
synonym: "Ppkfne" RELATED [OMIM:613000]
xref: DOID:0111709 {source="MONDO:equivalentTo"}
xref: GARD:18487 {source="MONDO:GARD"}
xref: MEDGEN:1644485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613000 {source="MONDO:equivalentTo"}
xref: UMLS:C4552049 {source="MEDGEN:1644485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017672 {source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:613000", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nonepidermolytic palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6423 {source="MONDO:mim2gene_medgen"} ! KRT16
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3108" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013074
name: encephalocraniocutaneous lipomatosis
def: "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." [NCIT:P378]
subset: gard_rare {source="GARD:2108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2396"}
subset: orphanet_rare {source="Orphanet:2396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ECCL" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4701, OMIM:613001]
synonym: "encephalocraniocutaneous lipomatosis" EXACT [MONDO:Lexical, NCIT:C4701, OMIM:613001]
synonym: "encephalocraniocutaneous lipomatosis, somatic mosaic" EXACT [OMIM:613001, OMIM:genemap2]
synonym: "Fishman syndrome" EXACT [GARD:0002108, NCIT:C4701]
synonym: "Haberland syndrome" EXACT [Orphanet:2396]
xref: GARD:2108 {source="MONDO:GARD"}
xref: ICD10CM:E88.2 {source="Orphanet:2396", source="Orphanet:2396/attributed", source="Orphanet:2396/ntbt"}
xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535736 {source="Orphanet:2396", source="MONDO:equivalentTo", source="Orphanet:2396/e"}
xref: NCIT:C4701 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: OMIM:613001 {source="Orphanet:2396", source="MONDO:equivalentTo", source="Orphanet:2396/e"}
xref: Orphanet:2396 {source="OMIM:613001", source="MONDO:equivalentTo"}
xref: SCTID:238905009 {source="MONDO:equivalentTo"}
xref: UMLS:C0406612 {source="MEDGEN:140807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002531 {source="MONDO:Entailed", source="Orphanet:2396/inferred"} ! skin neoplasm
is_a: MONDO:0006574 {source="MESH:C535736", source="NCIT:C4701"} ! lipomatosis
is_a: MONDO:0019296 {source="Orphanet:2396"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis" xsd:anyURI {source="GARD:0002108"}

[Term]
id: MONDO:0013075
name: herpes simplex encephalitis, susceptibility to, 2
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2" RELATED [OMIM:613002]
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2" RELATED [OMIM:613002]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 2" RELATED [OMIM:613002]
synonym: "herpes simplex encephalitis, susceptibility to, 2" EXACT [OMIM:613002]
synonym: "Herpes simplex encephalitis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613002]
synonym: "IIAE2" RELATED ABBREVIATION [OMIM:613002]
xref: Orphanet:1930 {source="OMIM:613002"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:613002", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced
relationship: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis
relationship: predisposes_towards MONDO:0100198 {source="OMIM:613002"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013076
name: attention deficit-hyperactivity disorder, susceptibility to, 7
subset: predisposition
synonym: "ADHD7" EXACT ABBREVIATION [OMIM:613003]
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 7" EXACT [OMIM:613003]
synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:613003]
synonym: "susceptibility to attention deficit-hyperactivity disorder 7" RELATED [OMIM:613003]
xref: MEDGEN:416637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613003 {source="MONDO:equivalentTo"}
xref: UMLS:C2751802 {source="MONDO:equivalentTo", source="MEDGEN:416637", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20692 ! TPH2
intersection_of: predisposes_towards MONDO:0005302 ! attention deficit hyperactivity disorder, inattentive type
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20692 {source="MONDO:mim2gene_medgen"} ! TPH2

[Term]
id: MONDO:0013077
name: Santos syndrome
synonym: "fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome" RELATED [OMIM:613005]
synonym: "Santos syndrome" EXACT [OMIM:613005]
xref: MEDGEN:414444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567819 {source="MONDO:equivalentTo"}
xref: OMIM:613005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751698 {source="MEDGEN:414444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013078
name: type 1 diabetes mellitus 24
def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31." [DOID:0110761, MONDO:patterns/inherited_susceptibility, PMID:19430480]
synonym: "diabetes mellitus, insulin-dependent, 24" RELATED [MONDO:Lexical, OMIM:613006]
synonym: "IDDM24" EXACT ABBREVIATION [DOID:0110761, MONDO:Lexical, OMIM:613006]
synonym: "insulin-dependent diabetes mellitus 24" EXACT [DOID:0110761]
xref: DOID:0110761 {source="MONDO:equivalentTo"}
xref: ICD10CM:E10 {source="DOID:0110761"}
xref: MEDGEN:442792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567818 {source="MONDO:equivalentTo"}
xref: OMIM:613006 {source="MONDO:equivalentTo", source="DOID:0110761"}
xref: UMLS:C2751697 {source="MEDGEN:442792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613006"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0005147 {source="DC-OMIM:613006", source="DOID:0110761", source="MESH:C567818", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: predisposes_towards MONDO:0005147 {source="OMIM:613006"} ! type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5033" xsd:anyURI

[Term]
id: MONDO:0013079
name: primary biliary cholangitis 2
subset: gard_rare {source="GARD:15601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "biliary cirrhosis, primary, 2" RELATED [MONDO:Lexical, OMIM:613007]
synonym: "PBC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613007]
xref: DOID:0070359 {source="MONDO:equivalentTo"}
xref: GARD:15601 {source="MONDO:GARD"}
xref: MEDGEN:442791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567817 {source="MONDO:equivalentTo"}
xref: OMIM:613007 {source="MONDO:equivalentTo"}
xref: Orphanet:186 {source="OMIM:613007"}
xref: UMLS:C2751696 {source="MEDGEN:442791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005388 {source="DC-OMIM:613007", source="MESH:C567817", source="OMIM:613007"} ! primary biliary cholangitis

[Term]
id: MONDO:0013080
name: primary biliary cholangitis 3
subset: gard_rare {source="GARD:15602", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "biliary cirrhosis, primary, 3" RELATED [MONDO:Lexical, OMIM:613008]
synonym: "PBC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613008]
xref: DOID:0070360 {source="MONDO:equivalentTo"}
xref: GARD:15602 {source="MONDO:GARD"}
xref: MEDGEN:414443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567816 {source="MONDO:equivalentTo"}
xref: OMIM:613008 {source="MONDO:equivalentTo"}
xref: Orphanet:186 {source="OMIM:613008"}
xref: UMLS:C2751695 {source="MEDGEN:414443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005388 {source="DC-OMIM:613008", source="MESH:C567816", source="OMIM:613008"} ! primary biliary cholangitis

[Term]
id: MONDO:0013081
name: lymphoproliferative syndrome 1
def: "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." [NCIT:C126344]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17979", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:538963"}
subset: orphanet_rare {source="Orphanet:538963"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ITK deficiency" EXACT [NCIT:C126344]
synonym: "ITK lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LPFS1" EXACT ABBREVIATION [DOID:0060707, MONDO:Lexical, OMIM:613011]
synonym: "lymphoproliferative syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613011]
synonym: "lymphoproliferative syndrome caused by mutation in ITK" EXACT [MONDO:design_pattern]
synonym: "lymphoproliferative syndrome type 1" EXACT [DOID:0060707, MONDORULE:1, OMIM:613011]
xref: DOID:0060707 {source="MONDO:equivalentTo"}
xref: GARD:17979 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="DOID:0060707"}
xref: MEDGEN:765548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567815 {source="MONDO:equivalentTo"}
xref: NANDO:2200734 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126344 {source="MONDO:equivalentTo"}
xref: OMIM:613011 {source="MONDO:equivalentTo", source="DOID:0060707", source="Orphanet:538963"}
xref: Orphanet:238505 {source="OMIM:613011"}
xref: Orphanet:538963 {source="MONDO:equivalentTo"}
xref: UMLS:C3552634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:765548"}
is_a: MONDO:0016537 {source="DOID:0060707", source="MESH:C567815", source="MONDO:Redundant", source="OMIM:613011", source="Orphanet:538963"} ! lymphoproliferative syndrome
is_a: MONDO:0021094 {source="NCIT:C126344"} ! immunodeficiency disease
intersection_of: MONDO:0016537 ! lymphoproliferative syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6171 ! ITK
relationship: excluded_subClassOf MONDO:0000001 {source="Orphanet:538963", source="https://orcid.org/0000-0001-5208-3432"} ! disease
relationship: excluded_subClassOf MONDO:0016536 {source="Orphanet:238505/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal recessive lymphoproliferative disease
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:538963", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6171 {source="MONDO:mim2gene_medgen", source="Orphanet:538963"} ! ITK

[Term]
id: MONDO:0013082
name: Hirschsprung disease-ganglioneuroblastoma syndrome
def: "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." [Orphanet:2151]
subset: gard_rare {source="GARD:2695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2151"}
subset: ordo_malformation_syndrome {source="Orphanet:2151"}
subset: orphanet_rare {source="Orphanet:2151"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "Hirschsprung disease ganglioneuroblastoma" RELATED [GARD:0002695]
synonym: "neuroblastoma with Hirschsprung disease" RELATED [OMIM:613013]
xref: GARD:2695 {source="MONDO:GARD"}
xref: ICD10CM:Q43.1 {source="Orphanet:2151/attributed", source="Orphanet:2151/ntbt", source="Orphanet:2151"}
xref: MEDGEN:1683967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538119 {source="Orphanet:2151/e", source="MONDO:equivalentTo", source="Orphanet:2151"}
xref: Orphanet:2151 {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="OMIM:613013", source="MONDO:relatedTo"}
xref: UMLS:C5191058 {source="MEDGEN:1683967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0021189 {source="Orphanet:2151"} ! intestinal motility disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0013083
name: neuroblastoma, susceptibility to, 3
def: "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "ALK neuroblastoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NBLST3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613014]
synonym: "neuroblastoma caused by mutation in ALK" EXACT [MONDO:design_pattern]
synonym: "neuroblastoma, susceptibility to, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613014]
synonym: "neuroblastoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613014]
synonym: "susceptibility to neuroblastoma 3" RELATED [OMIM:613014]
xref: MEDGEN:414083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613014 {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613014"}
xref: UMLS:C2751681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414083"}
is_a: MONDO:0020573 {source="OMIM:613014"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/427 ! ALK
intersection_of: predisposes_towards MONDO:0005072 ! neuroblastoma
relationship: excluded_subClassOf MONDO:0005072 {source="DC-OMIM:613014", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! neuroblastoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/427 {source="MONDO:mim2gene_medgen"} ! ALK
relationship: predisposes_towards MONDO:0005072 {source="OMIM:613014"} ! neuroblastoma

[Term]
id: MONDO:0013084
name: neuroblastoma, susceptibility to, 4
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "NBLST4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613015]
synonym: "neuroblastoma, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:613015]
xref: MEDGEN:414082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613015 {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="OMIM:613015", source="MONDO:relatedTo"}
xref: UMLS:C2751680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414082"}
is_a: MONDO:0020573 {source="OMIM:613015"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005072 {source="OMIM:613015"} ! neuroblastoma

[Term]
id: MONDO:0013085
name: neuroblastoma, susceptibility to, 5
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "NBLST5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613016]
synonym: "neuroblastoma, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613016]
xref: MEDGEN:442787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613016 {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613016"}
xref: UMLS:C2751679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442787"}
is_a: MONDO:0020573 {source="OMIM:613016"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005072 {source="OMIM:613016"} ! neuroblastoma

[Term]
id: MONDO:0013086
name: neuroblastoma, susceptibility to, 6
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "NBLST6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613017]
synonym: "neuroblastoma, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613017]
xref: MEDGEN:414440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613017 {source="MONDO:equivalentTo"}
xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613017"}
xref: UMLS:C2751678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414440"}
is_a: MONDO:0020573 {source="OMIM:613017"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005072 {source="OMIM:613017"} ! neuroblastoma

[Term]
id: MONDO:0013087
name: bronchiectasis with or without elevated sweat chloride 2
def: "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BESC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613021]
synonym: "bronchiectasis caused by mutation in SCNN1A" EXACT [MONDO:design_pattern]
synonym: "bronchiectasis with or without elevated sweat chloride 2" EXACT [MONDO:Lexical, OMIM:613021]
synonym: "bronchiectasis with or without elevated sweat chloride type 2" EXACT [MONDORULE:1, OMIM:613021]
synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:613021]
synonym: "SCNN1A bronchiectasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080527 {source="MONDO:equivalentTo"}
xref: GARD:18055 {source="MONDO:GARD"}
xref: MEDGEN:414437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567813 {source="MONDO:equivalentTo"}
xref: OMIM:613021 {source="MONDO:equivalentTo"}
xref: Orphanet:60033 {source="OMIM:613021"}
xref: UMLS:C2751666 {source="MONDO:equivalentTo", source="MEDGEN:414437", source="MONDO:MEDGEN"}
is_a: MONDO:0004822 {source="MESH:C567813", source="MONDO:Redundant", source="OMIM:613021"} ! bronchiectasis
is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis
intersection_of: MONDO:0004822 ! bronchiectasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10599 ! SCNN1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10599 {source="MONDO:mim2gene_medgen"} ! SCNN1A

[Term]
id: MONDO:0013088
name: follicular lymphoma, susceptibility to, 1
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "FL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613024]
synonym: "follicular lymphoma, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:613024]
xref: MEDGEN:442784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613024 {source="MONDO:equivalentTo"}
xref: Orphanet:545 {source="OMIM:613024"}
xref: UMLS:C2751665 {source="MONDO:equivalentTo", source="MEDGEN:442784", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613024", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 ! BCL10
intersection_of: predisposes_towards MONDO:0018906 ! follicular lymphoma
relationship: excluded_subClassOf MONDO:0018906 {source="Orphanet:545/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! follicular lymphoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 {source="MONDO:mim2gene_medgen"} ! BCL10
relationship: predisposes_towards MONDO:0018906 {source="OMIM:613024"} ! follicular lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013089
name: schizophrenia 13
def: "A schizophrenia that has material basis in a mutation on chromosome 15q13." [DOID:0070089]
synonym: "schizophrenia 13" EXACT [MONDO:Lexical, OMIM:613025]
synonym: "schizophrenia susceptibility locus, chromosome 15Q13-q14-related" EXACT [OMIM:613025]
synonym: "schizophrenia, Neurophysiologic defect 1N" RELATED [OMIM:613025]
synonym: "schizophrenia, susceptibility to, 13" EXACT [OMIM:613025, OMIM:genemap2]
synonym: "SCZD13" EXACT ABBREVIATION [DOID:0070089, MONDO:Lexical, OMIM:613025]
xref: DOID:0070089 {source="MONDO:equivalentTo"}
xref: MEDGEN:416605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613025 {source="DOID:0070089", source="MONDO:equivalentTo"}
xref: UMLS:C2751663 {source="MEDGEN:416605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100182 {source="OMIM:613025", source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia, susceptibility to
relationship: excluded_subClassOf MONDO:0005090 {source="DOID:0070089", source="OMIM:613025", source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia
relationship: predisposes_towards MONDO:0005090 {source="OMIM:613025"} ! schizophrenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013090
name: chromosome 19q13.11 deletion syndrome
def: "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." [Orphanet:217346]
subset: gard_rare {source="GARD:10592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217346"}
subset: ordo_malformation_syndrome {source="Orphanet:217346"}
subset: orphanet_rare {source="Orphanet:217346"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "19q13.11 microdeletion syndrome" EXACT [DOID:0060408]
synonym: "chromosome 19Q13.11 deletion syndrome, distal" RELATED [OMIM:613026]
synonym: "chromosome 19q13.11 deletion syndrome, distal" RELATED [OMIM:613026]
synonym: "Del(19)(q13.11)" EXACT [Orphanet:217346]
synonym: "monosomy 19q13.11" EXACT [DOID:0060408, Orphanet:217346]
xref: DOID:0060408 {source="MONDO:equivalentTo"}
xref: GARD:10592 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:217346/attributed", source="Orphanet:217346/ntbt", source="Orphanet:217346"}
xref: MEDGEN:414432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567810 {source="MONDO:equivalentTo", source="DOID:0060408"}
xref: Orphanet:217346 {source="OMIM:613026", source="MONDO:equivalentTo", source="DOID:0060408"}
xref: SCTID:719599008 {source="MONDO:equivalentTo"}
xref: UMLS:C2751651 {source="MEDGEN:414432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613026", source="DOID:0060408"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015159 {source="Orphanet:217346"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016917 {source="Orphanet:217346"} ! partial deletion of the long arm of chromosome 19
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr19q13.11 ! 19q13.11 (Human)
relationship: disease_arises_from_structure CHR:9606-chr19q13.11 {source="OMIM:613026"} ! 19q13.11 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217346", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome" xsd:anyURI {source="GARD:0010592"}

[Term]
id: MONDO:0013091
name: glycogen storage disease IXc
def: "A liver PhK deficiency caused by variants in the PHKG2 gene" [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
subset: gard_rare {source="GARD:18387", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glycogen storage disease caused by mutation in PHKG2" EXACT [MONDO:design_pattern]
synonym: "glycogen storage disease IXc" EXACT CLINGEN_LABEL [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:Lexical, OMIM:613027]
synonym: "glycogen storage disease type 9C" RELATED EXCLUDE [DOID:0111043]
synonym: "glycogen storage disease type IXc" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:5, OMIM:613027]
synonym: "glycogenosis type 9C" RELATED EXCLUDE [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD IXc" RELATED [OMIM:613027]
synonym: "GSD type 9C" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD type IXc" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD9C" EXACT ABBREVIATION [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:Lexical, OMIM:613027]
synonym: "PHKG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHKG2-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
xref: DOID:0111043 {source="MONDO:equivalentTo"}
xref: GARD:18387 {source="MONDO:GARD"}
xref: MEDGEN:442778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567809 {source="MONDO:equivalentTo"}
xref: NANDO:1200849 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201166 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613027 {source="MONDO:equivalentTo", source="Orphanet:264580/btnt", source="DOID:0111043", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:264580"}
xref: Orphanet:264580 {source="OMIM:613027"}
xref: UMLS:C2751643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442778"}
is_a: MONDO:0020693 {source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! glycogen storage disease due to liver phosphorylase kinase deficiency
intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8931 {source="MONDO:mim2gene_medgen"} ! PHKG2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8931 {source="MONDO:mim2gene_medgen", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/"} ! PHKG2

[Term]
id: MONDO:0013092
name: glioma susceptibility 2
def: "Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "glioma susceptibility 2" EXACT [MONDO:Lexical, OMIM:613028]
synonym: "glioma susceptibility type 2" EXACT [MONDORULE:1, OMIM:613028]
synonym: "GLM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613028]
synonym: "malignant glioma caused by mutation in PTEN" EXACT [MONDO:design_pattern]
synonym: "PTEN malignant glioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:414431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613028 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="OMIM:613028"}
xref: UMLS:C2751642 {source="MEDGEN:414431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100242 {source="OMIM:613028"} ! glioma susceptibility
intersection_of: MONDO:0100242 ! glioma susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 ! PTEN
intersection_of: predisposes_towards MONDO:0100342 ! malignant glioma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 {source="MONDO:mim2gene_medgen"} ! PTEN

[Term]
id: MONDO:0013093
name: glioma susceptibility 3
def: "Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "BRCA2 malignant glioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glioblastoma 3" EXACT [OMIM:613029, OMIM:genemap2]
synonym: "glioma susceptibility 3" EXACT [MONDO:Lexical, OMIM:613029]
synonym: "glioma susceptibility type 3" EXACT [MONDORULE:1, OMIM:613029]
synonym: "GLM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613029]
synonym: "malignant glioma caused by mutation in BRCA2" EXACT [MONDO:design_pattern]
xref: MEDGEN:442777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613029 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="OMIM:613029"}
xref: Orphanet:360 {source="MONDO:relatedTo", source="OMIM:613029"}
xref: UMLS:C2751641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442777"}
intersection_of: MONDO:0100242 ! glioma susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 ! BRCA2
intersection_of: predisposes_towards MONDO:0100342 ! malignant glioma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen"} ! BRCA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013094
name: glioma susceptibility 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioma susceptibility 5" EXACT [MONDO:Lexical, OMIM:613030]
synonym: "GLM5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613030]
xref: MEDGEN:414430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613030 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="OMIM:613030"}
xref: UMLS:C2751640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414430"}
is_a: MONDO:0100242 {source="OMIM:613030"} ! glioma susceptibility
relationship: predisposes_towards MONDO:0100342 ! malignant glioma

[Term]
id: MONDO:0013095
name: glioma susceptibility 6
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioma susceptibility 6" EXACT [MONDO:Lexical, OMIM:613031]
synonym: "GLM6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613031]
xref: MEDGEN:414429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613031 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="OMIM:613031"}
xref: UMLS:C2751639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414429"}
is_a: MONDO:0100242 {source="OMIM:613031"} ! glioma susceptibility
relationship: predisposes_towards MONDO:0100342 ! malignant glioma

[Term]
id: MONDO:0013096
name: glioma susceptibility 7
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioma susceptibility 7" EXACT [MONDO:Lexical, OMIM:613032]
synonym: "GLM7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613032]
xref: MEDGEN:416602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613032 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="OMIM:613032"}
xref: UMLS:C2751638 {source="MEDGEN:416602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100242 {source="OMIM:613032"} ! glioma susceptibility
relationship: predisposes_towards MONDO:0100342 ! malignant glioma

[Term]
id: MONDO:0013097
name: glioma susceptibility 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioma susceptibility 8" EXACT [MONDO:Lexical, OMIM:613033]
synonym: "GLM8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613033]
xref: MEDGEN:416601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613033 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="OMIM:613033"}
xref: UMLS:C2751637 {source="MEDGEN:416601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100242 {source="OMIM:613033"} ! glioma susceptibility
relationship: predisposes_towards MONDO:0100342 ! malignant glioma

[Term]
id: MONDO:0013098
name: noise induced hearing loss
def: "A condition in which a person loses the ability to hear due to exposure to high intensity sound." [NCIT:C34664]
subset: otar {source="MONDO:OTAR"}
synonym: "hearing loss, noise-induced, susceptibility to" RELATED [MONDO:Lexical, OMIM:613035]
synonym: "NIHL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613035]
synonym: "noise-induced hearing loss" EXACT [NCIT:C34664]
xref: EFO:1001254 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:388.12 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:5455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006317 {source="MONDO:equivalentTo"}
xref: NCIT:C34664 {source="MONDO:equivalentTo"}
xref: SCTID:73415002 {source="MONDO:equivalentTo"}
xref: UMLS:C0018781 {source="MEDGEN:5455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005365 {source="EFO:1001254", source="MESH:D006317/inferred", source="NCIT:C34664"} ! hearing loss disorder
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013099
name: combined pituitary hormone deficiencies, genetic form
def: "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." [Orphanet:95494]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10602", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95494"}
subset: orphanet_rare {source="Orphanet:95494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined pituitary hormone deficiencies, genetic forms" RELATED [Orphanet:95494]
synonym: "familial congenital hypopituitarism" EXACT [Orphanet:95494]
synonym: "familial hypopituitarism" RELATED [GARD:0002252]
synonym: "genetic hypopituitarism" EXACT [MONDO:patterns/genetic]
synonym: "multiple pituitary hormone deficiencies, genetic forms" EXACT [Orphanet:95494]
synonym: "pituitary hormone deficiency, combined" EXACT [OMIMPS:613038]
xref: GARD:10602 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95494/attributed", source="Orphanet:95494/ntbt", source="Orphanet:95494"}
xref: MEDGEN:906592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:613038 {source="MONDO:equivalentTo"}
xref: Orphanet:95494 {source="OMIM:613038", source="MONDO:equivalentTo"}
xref: SCTID:718182008 {source="MONDO:equivalentTo"}
xref: UMLS:C4273747 {source="MEDGEN:906592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism
intersection_of: MONDO:0005152 ! hypopituitarism
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613038"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism" xsd:anyURI {source="GARD:0002252"}

[Term]
id: MONDO:0013100
name: atrial fibrillation, familial, 8
subset: gard_rare {source="GARD:15609", source="MONDO:GARD"}
subset: rare
synonym: "ATFB8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613055]
synonym: "atrial fibrillation, familial, 8" EXACT [MONDO:Lexical, OMIM:613055]
xref: GARD:15609 {source="MONDO:GARD"}
xref: MEDGEN:414420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567802 {source="MONDO:equivalentTo"}
xref: OMIM:613055 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:613055"}
xref: UMLS:C2751607 {source="MEDGEN:414420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:613055", source="OMIM:613055"} ! familial atrial fibrillation

[Term]
id: MONDO:0013101
name: basal cell carcinoma, susceptibility to, 2
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613058]
synonym: "BCC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613058]
xref: MEDGEN:442769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613058 {source="MONDO:equivalentTo"}
xref: UMLS:C2751606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442769"}
is_a: MONDO:0100047 {source="https://orcid.org/0000-0001-5208-3432"} ! basal cell carcinoma, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005341 {source="DC-OMIM:613058", source="https://orcid.org/0000-0001-5208-3432"} ! skin basal cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013102
name: basal cell carcinoma, susceptibility to, 3
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613059]
synonym: "BCC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613059]
xref: MEDGEN:414419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613059 {source="MONDO:equivalentTo"}
xref: UMLS:C2751605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414419"}
is_a: MONDO:0100047 {source="https://orcid.org/0000-0001-5208-3432"} ! basal cell carcinoma, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005341 {source="DC-OMIM:613059", source="https://orcid.org/0000-0001-5208-3432"} ! skin basal cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013103
name: epilepsy, idiopathic generalized, susceptibility to, 10
def: "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
subset: predisposition
synonym: "EIG10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613060]
synonym: "epilepsy, idiopathic generalized, 10" EXACT [OMIM:613060, OMIM:genemap2]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:613060]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:613060]
synonym: "epilepsy, juvenile myoclonic, susceptibility to" EXACT [OMIM:613060, OMIM:genemap2]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 7" RELATED [OMIM:613060]
synonym: "GEFS+, type 5, susceptibility to" RELATED [OMIM:613060]
synonym: "GEFS+5, susceptibility to" RELATED [OMIM:613060]
synonym: "GEFSP5, susceptibility to" RELATED [OMIM:613060]
synonym: "generalised epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED OMO:0003005 []
synonym: "generalized epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED [OMIM:613060]
synonym: "susceptibility to idiopathic generalised epilepsy 10" EXACT OMO:0003005 []
synonym: "susceptibility to idiopathic generalized epilepsy 10" EXACT [OMIM:613060]
xref: DOID:0111292 {source="MONDO:equivalentTo"}
xref: MEDGEN:414062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613060 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="OMIM:613060"}
xref: Orphanet:36387 {source="OMIM:613060"}
xref: UMLS:C2751603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414062"}
is_a: MONDO:0020573 {source="OMIM:600669"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4084 {source="MONDO:mim2gene_medgen"} ! GABRD
relationship: predisposes_towards MONDO:0005579 {source="OMIM:600669"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013104
name: basal cell carcinoma, susceptibility to, 4
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:613061]
synonym: "BCC4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613061]
xref: MEDGEN:414061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613061 {source="MONDO:equivalentTo"}
xref: UMLS:C2751602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414061"}
is_a: MONDO:0100047 {source="https://orcid.org/0000-0001-5208-3432"} ! basal cell carcinoma, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005341 {source="DC-OMIM:613061", source="https://orcid.org/0000-0001-5208-3432"} ! skin basal cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013105
name: basal cell carcinoma, susceptibility to, 5
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613062]
synonym: "BCC5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613062]
xref: MEDGEN:414060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613062 {source="MONDO:equivalentTo"}
xref: UMLS:C2751601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414060"}
is_a: MONDO:0100047 {source="https://orcid.org/0000-0001-5208-3432"} ! basal cell carcinoma, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005341 {source="DC-OMIM:613062", source="https://orcid.org/0000-0001-5208-3432"} ! skin basal cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013106
name: basal cell carcinoma, susceptibility to, 6
subset: predisposition
synonym: "basal cell carcinoma, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613063]
synonym: "BCC6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613063]
xref: MEDGEN:414059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613063 {source="MONDO:equivalentTo"}
xref: UMLS:C2751600 {source="MEDGEN:414059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100047 {source="https://orcid.org/0000-0001-5208-3432"} ! basal cell carcinoma, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005341 {source="DC-OMIM:613063", source="https://orcid.org/0000-0001-5208-3432"} ! skin basal cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013107
name: dermatitis, atopic, 7
def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 11q13.5." [DOID:0110103, MONDO:patterns/inherited_susceptibility, PMID:19349984]
synonym: "ATOD7" EXACT ABBREVIATION [DOID:0110103, MONDO:Lexical, OMIM:613064]
synonym: "atopic dermatitis 7" EXACT []
synonym: "atopic dermatitis type 7" EXACT [DOID:0110103, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 7" RELATED [MONDO:Lexical, OMIM:613064]
synonym: "dermatitis, atopic, susceptibility to, 7" EXACT [OMIM:613064, OMIM:genemap2]
xref: DOID:0110103 {source="MONDO:equivalentTo"}
xref: MEDGEN:414058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567796 {source="MONDO:equivalentTo"}
xref: OMIM:613064 {source="MONDO:equivalentTo", source="DOID:0110103"}
xref: UMLS:C2751599 {source="MEDGEN:414058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100178 {source="OMIM:613064"} ! dermatitis, atopic, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="MESH:C567796/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:613064", source="DOID:0110103", source="OMIM:613064", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013108
name: leukemia, acute lymphocytic, susceptibility to, 1
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "ALL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613065]
synonym: "All1" RELATED [OMIM:613065]
synonym: "leukemia, acute lymphoblastic" RELATED [MONDO:Lexical, OMIM:613065]
synonym: "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to" RELATED [OMIM:613065]
synonym: "leukemia, acute lymphoblastic, somatic" EXACT [OMIM:613065, OMIM:genemap2]
synonym: "leukemia, acute lymphoblastic, susceptibility to, 1" RELATED [OMIM:613065]
synonym: "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic" EXACT [OMIM:613065, OMIM:genemap2]
synonym: "leukemia, acute lymphocytic, susceptibility to, 1" EXACT [OMIM:613065]
synonym: "leukemia, B-cell acute lymphoblastic, susceptibility to" RELATED [OMIM:613065]
synonym: "leukemia, T-cell acute lymphoblastic, somatic" EXACT [OMIM:613065, OMIM:genemap2]
synonym: "leukemia, T-cell acute lymphoblastic, susceptibility to" RELATED [OMIM:613065]
synonym: "leukemia, T-cell acute lymphocytic, somatic" EXACT [OMIM:613065, OMIM:genemap2]
synonym: "T-cell acute lymphoblastic leukemia, somatic" EXACT [OMIM:613065, OMIM:genemap2]
xref: MEDGEN:442767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613065 {source="MONDO:equivalentTo"}
xref: Orphanet:513 {source="OMIM:613065"}
xref: UMLS:C2751595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442767"}
is_a: MONDO:0020573 {source="OMIM:613065", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0004967 {source="DC-OMIM:613065", source="https://orcid.org/0000-0001-5208-3432"} ! acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute
relationship: predisposes_towards MONDO:0004967 {source="OMIM:613065"} ! acute lymphoblastic leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013109
name: leukemia, acute lymphocytic, susceptibility to, 2
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "ALL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613067]
synonym: "leukemia, acute lymphoblastic, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:613067]
synonym: "leukemia, acute lymphocytic, susceptibility to, 2" EXACT [OMIM:613067]
xref: MEDGEN:442766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613067 {source="MONDO:equivalentTo"}
xref: Orphanet:513 {source="OMIM:613067"}
xref: UMLS:C2751593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442766"}
is_a: MONDO:0020573 {source="OMIM:613067", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0004967 {source="DC-OMIM:613067", source="https://orcid.org/0000-0001-5208-3432"} ! acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute
relationship: predisposes_towards MONDO:0004967 {source="OMIM:613067"} ! acute lymphoblastic leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013110
name: neurodegenerative syndrome due to cerebral folate transport deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217382"}
subset: orphanet_rare {source="Orphanet:217382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral folate deficiency syndrome" RELATED [GARD:0010594]
synonym: "cerebral folate receptor alpha deficiency" EXACT []
synonym: "cerebral folate transport deficiency" RELATED [GARD:0010594]
synonym: "neurodegeneration due to cerebral folate TRANSPORT deficiency" RELATED [OMIM:613068]
synonym: "neurodegenerative syndrome due to cerebral folate transport deficiency" EXACT CLINGEN_LABEL []
xref: DOID:0050719 {source="MONDO:equivalentTo"}
xref: GARD:10594 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:217382", source="Orphanet:217382/attributed", source="Orphanet:217382/ntbt"}
xref: ICD9:266.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:442763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567791 {source="MONDO:equivalentTo"}
xref: OMIM:613068 {source="MONDO:equivalentTo", source="Orphanet:217382", source="Orphanet:217382/e"}
xref: Orphanet:217382 {source="OMIM:613068", source="MONDO:equivalentTo"}
xref: SCTID:711403001 {source="MONDO:equivalentTo"}
xref: UMLS:C2751584 {source="MEDGEN:442763", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005528 {source="DOID:0050719"} ! inborn vitamin metabolic disorder
is_a: MONDO:0017313 {source="Orphanet:217382"} ! disorder of folate metabolism and transport
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:217382"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3791 {source="MONDO:mim2gene_medgen"} ! FOLR1

[Term]
id: MONDO:0013111
name: acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
def: "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." [Orphanet:217371]
comment: Editor note: add transient course
subset: gard_rare {source="GARD:10593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217371"}
subset: orphanet_rare {source="Orphanet:217371"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute infantile liver failure" BROAD [GARD:0010593]
synonym: "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" EXACT [Orphanet:217371]
synonym: "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" EXACT CLINGEN_LABEL []
synonym: "infantile liver failure caused by mutation in TRMU" EXACT [MONDO:design_pattern]
synonym: "LFIT" EXACT ABBREVIATION [OMIM:613070]
synonym: "liver failure, infantile, transient" EXACT [MONDO:Lexical, OMIM:613070]
synonym: "liver failure, transient infantile" EXACT [OMIM:613070, OMIM:genemap2]
synonym: "transient infantile liver failure" EXACT [GARD:0010593]
synonym: "TRMU infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080778 {source="MONDO:equivalentTo"}
xref: GARD:10593 {source="MONDO:GARD"}
xref: ICD10CM:K72.0 {source="Orphanet:217371", source="Orphanet:217371/attributed", source="Orphanet:217371/ntbt"}
xref: MEDGEN:480294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613070 {source="MONDO:equivalentTo", source="Orphanet:217371", source="Orphanet:217371/e"}
xref: Orphanet:217371 {source="MONDO:equivalentTo", source="OMIM:613070"}
xref: UMLS:C3278664 {source="MONDO:equivalentTo", source="MEDGEN:480294", source="MONDO:MEDGEN"}
is_a: MONDO:0000023 {source="DC-OMIM:613070", source="MONDO:Redundant"} ! infantile liver failure
is_a: MONDO:0005066 {source="MONDO:Redundant", source="Orphanet:217371"} ! metabolic disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000023 ! infantile liver failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25481 ! TRMU
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015115"} ! rare
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25481 {source="MONDO:mim2gene_medgen"} ! TRMU
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013112
name: bronchiectasis with or without elevated sweat chloride 3
def: "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BESC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613071]
synonym: "bronchiectasis caused by mutation in SCNN1G" EXACT [MONDO:design_pattern]
synonym: "bronchiectasis with or without elevated sweat chloride 3" EXACT [MONDO:Lexical, OMIM:613071]
synonym: "bronchiectasis with or without elevated sweat chloride type 3" EXACT [MONDORULE:1, OMIM:613071]
synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:613071]
synonym: "SCNN1G bronchiectasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080528 {source="MONDO:equivalentTo"}
xref: GARD:18056 {source="MONDO:GARD"}
xref: MEDGEN:414351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567772 {source="MONDO:equivalentTo"}
xref: OMIM:613071 {source="MONDO:equivalentTo"}
xref: Orphanet:60033 {source="OMIM:613071"}
xref: UMLS:C2751324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414351"}
is_a: MONDO:0004822 {source="MESH:C567772", source="MONDO:Redundant", source="OMIM:613071"} ! bronchiectasis
is_a: MONDO:0018956 {source="Orphanet:60033/btnt"} ! idiopathic bronchiectasis
intersection_of: MONDO:0004822 ! bronchiectasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 ! SCNN1G
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 {source="MONDO:mim2gene_medgen"} ! SCNN1G

[Term]
id: MONDO:0013113
name: metaphyseal anadysplasia 2
def: "Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MANDP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613073]
synonym: "metaphyseal anadysplasia 2" EXACT [MONDO:Lexical, OMIM:613073]
synonym: "metaphyseal anadysplasia caused by mutation in MMP9" EXACT [MONDO:design_pattern]
synonym: "metaphyseal anadysplasia type 2" EXACT [MONDORULE:1, OMIM:613073]
synonym: "MMP9 metaphyseal anadysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15610 {source="MONDO:GARD"}
xref: MEDGEN:414350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567771 {source="MONDO:equivalentTo"}
xref: OMIM:613073 {source="MONDO:equivalentTo"}
xref: Orphanet:1040 {source="OMIM:613073"}
xref: UMLS:C2751322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414350"}
is_a: MONDO:0015177 {source="MONDO:Redundant", source="Orphanet:1040/btnt"} ! metaphyseal anadysplasia
intersection_of: MONDO:0015177 ! metaphyseal anadysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7176 ! MMP9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7176 {source="MONDO:mim2gene_medgen"} ! MMP9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013114
name: autosomal dominant nonsyndromic hearing loss 50
def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32." [DOID:0110576, PMID:19363479]
subset: gard_rare {source="GARD:18132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 50" NARROW [DOID:0110576]
synonym: "autosomal dominant nonsyndromic deafness 50" NARROW [OMIM:613074]
synonym: "autosomal dominant nonsyndromic deafness type 50" NARROW [DOID:0110576, MONDORULE:2]
synonym: "deafness, autosomal dominant 50" RELATED [MONDO:Lexical, OMIM:613074]
synonym: "deafness, autosomal dominant type 50" NARROW [MONDORULE:2, OMIM:613074]
synonym: "DFNA50" NARROW ABBREVIATION [DOID:0110576, MONDO:Lexical, OMIM:613074]
xref: DOID:0110576 {source="MONDO:equivalentTo"}
xref: GARD:18132 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110576"}
xref: MEDGEN:854780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613074 {source="MONDO:equivalentTo", source="DOID:0110576"}
xref: UMLS:C3888123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854780"}
is_a: MONDO:0019587 {source="DC-OMIM:613074", source="DOID:0110576", source="MONDO:Redundant", source="OMIM:613074"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31648 ! MIR96
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31648 {source="MONDO:mim2gene_medgen"} ! MIR96
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013115
name: RIN2 syndrome
def: "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." [Orphanet:217335]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217335"}
subset: ordo_malformation_syndrome {source="Orphanet:217335"}
subset: orphanet_rare {source="Orphanet:217335"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrocephaly, alopecia, cutis laxa, and scoliosis" RELATED [OMIM:613075]
synonym: "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" EXACT [Orphanet:217335]
synonym: "MACS syndrome" EXACT [OMIM:613075, Orphanet:217335]
synonym: "RIN2 deficiency" EXACT [Orphanet:217335]
synonym: "RIN2 syndrome" EXACT CLINGEN_LABEL []
synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" RELATED [OMIM:613075]
synonym: "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" EXACT [Orphanet:217335]
xref: GARD:17120 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:217335/attributed", source="Orphanet:217335/ntbt", source="Orphanet:217335"}
xref: MEDGEN:416526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567770 {source="MONDO:equivalentTo"}
xref: OMIM:613075 {source="Orphanet:217335/e", source="MONDO:equivalentTo", source="Orphanet:217335"}
xref: Orphanet:217335 {source="MONDO:equivalentTo", source="OMIM:613075"}
xref: SCTID:723367005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751321 {source="MEDGEN:416526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100237 {source="MESH:C567770", source="Orphanet:217335"} ! inherited cutis laxa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18750 {source="MONDO:mim2gene_medgen"} ! RIN2

[Term]
id: MONDO:0013116
name: congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
subset: gard_rare {source="GARD:10522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330054"}
subset: orphanet_rare {source="Orphanet:330054"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" EXACT [Orphanet:330054]
synonym: "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" EXACT CLINGEN_LABEL []
synonym: "mitochondrial Complex deficiency, combined" RELATED [OMIM:613076]
synonym: "myopathy with cataract and combined respiratory chain deficiency" RELATED [OMIM:613076]
synonym: "myopathy with cataract and combined respiratory-chain deficiency" RELATED [GARD:0010522]
synonym: "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" EXACT [OMIM:613076, OMIM:genemap2]
synonym: "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" RELATED [OMIM:613076]
xref: GARD:10522 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:330054", source="Orphanet:330054/attributed", source="Orphanet:330054/ntbt"}
xref: MEDGEN:416525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567769 {source="MONDO:equivalentTo"}
xref: OMIM:613076 {source="Orphanet:330054", source="MONDO:equivalentTo", source="Orphanet:330054/e"}
xref: Orphanet:330054 {source="MONDO:equivalentTo", source="OMIM:613076"}
xref: UMLS:C2751320 {source="MEDGEN:416525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009637 {source="MESH:C567769", source="Orphanet:330054"} ! inborn mitochondrial myopathy
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4236 {source="MONDO:mim2gene_medgen"} ! GFER
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013117
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16501", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PEOA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613077]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" EXACT [MONDO:Lexical, OMIM:613077]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:613077]
synonym: "progressive external ophthalmoplegia, autosomal dominant 5" RELATED [OMIM:613077]
synonym: "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111518 {source="MONDO:equivalentTo"}
xref: GARD:16501 {source="MONDO:GARD"}
xref: MEDGEN:413981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567768 {source="MONDO:equivalentTo"}
xref: OMIM:613077 {source="MONDO:equivalentTo"}
xref: Orphanet:254892 {source="OMIM:613077"}
xref: UMLS:C2751319 {source="MEDGEN:413981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000090 {source="MONDO:0013117/inferred", source="MONDO:Redundant", source="OMIM:613077"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0008003 {source="Orphanet:254892/btnt"} ! autosomal dominant progressive external ophthalmoplegia
intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17296 ! RRM2B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17296 {source="MONDO:mim2gene_medgen"} ! RRM2B

[Term]
id: MONDO:0013118
name: Nijmegen breakage syndrome-like disorder
def: "Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly." [Orphanet:240760]
subset: gard_rare {source="GARD:17184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:240760"}
subset: ordo_malformation_syndrome {source="Orphanet:240760"}
subset: orphanet_rare {source="Orphanet:240760"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly and chromosomal instability without immunodeficiency" EXACT [Orphanet:240760]
synonym: "microcephaly and spontaneous chromosome instability without immunodeficiency" RELATED [OMIM:613078]
synonym: "NBs-like disorder" EXACT [OMIM:613078, Orphanet:240760]
synonym: "NBSLD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613078, Orphanet:240760]
synonym: "Nijmegen breakage syndrome-like disorder" EXACT [MONDO:Lexical, OMIM:613078]
synonym: "RAD50 deficiency" EXACT [Orphanet:240760]
synonym: "Rad50 deficiency" RELATED [OMIM:613078]
xref: GARD:17184 {source="MONDO:GARD"}
xref: MEDGEN:442700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567767 {source="MONDO:equivalentTo"}
xref: NCIT:C153178 {source="MONDO:equivalentTo"}
xref: OMIM:613078 {source="Orphanet:240760", source="MONDO:equivalentTo", source="Orphanet:240760/e"}
xref: Orphanet:240760 {source="OMIM:613078", source="MONDO:equivalentTo"}
xref: SCTID:766753005 {source="MONDO:equivalentTo"}
xref: UMLS:C2751318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442700"}
is_a: MONDO:0015161 {source="Orphanet:240760"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:240760", source="Orphanet:240760/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0021190 {source="PMID:19409520", source="PMID:23684796"} ! DNA repair disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9816 {source="MONDO:mim2gene_medgen"} ! RAD50
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5347" xsd:anyURI

[Term]
id: MONDO:0013119
name: autosomal recessive nonsyndromic hearing loss 77
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 77" NARROW [DOID:0110525]
synonym: "autosomal recessive nonsyndromic deafness 77" NARROW [OMIM:613079]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 77" NARROW [DOID:0110525, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 77" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 77" NARROW [MONDO:Lexical, OMIM:613079, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 77" NARROW [MONDORULE:2, OMIM:613079]
synonym: "DFNB77" NARROW ABBREVIATION [DOID:0110525, MONDO:Lexical, OMIM:613079]
synonym: "LOXHD1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110525 {source="MONDO:equivalentTo"}
xref: GARD:22631 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110525"}
xref: MEDGEN:412541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567543 {source="MONDO:equivalentTo"}
xref: OMIM:613079 {source="DOID:0110525", source="MONDO:equivalentTo"}
xref: UMLS:C2746083 {source="MEDGEN:412541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:613079", source="DOID:0110525", source="MONDO:Redundant", source="OMIM:613079"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26521 ! LOXHD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26521 {source="MONDO:mim2gene_medgen"} ! LOXHD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013120
name: 46,XY sex reversal 5
subset: gard_rare {source="GARD:15611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XY gonadal dysgenesis, complete, Cbx2-related" RELATED [OMIM:613080]
synonym: "46,XY SEX reversal 5" RELATED [OMIM:613080]
synonym: "46,XY sex reversal 5" EXACT [MONDO:Lexical, OMIM:613080]
synonym: "46,XY Sex reversal type 5" EXACT [MONDORULE:1, OMIM:613080]
synonym: "46,XY Sex reversal, Cbx2-related" RELATED [OMIM:613080]
synonym: "46XY sex reversal 5" EXACT [OMIM:613080, OMIM:genemap2]
synonym: "disorder of Sex development, 46,XY, Cbx2-related" RELATED [OMIM:613080]
synonym: "Sex reversal, XY, Cbx2-related" RELATED [OMIM:613080]
synonym: "SRXY5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613080]
xref: DOID:0111776 {source="MONDO:equivalentTo"}
xref: GARD:15611 {source="MONDO:GARD"}
xref: MEDGEN:414349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567766 {source="MONDO:equivalentTo"}
xref: OMIM:613080 {source="MONDO:equivalentTo"}
xref: Orphanet:242 {source="OMIM:613080"}
xref: UMLS:C2751317 {source="MONDO:equivalentTo", source="MEDGEN:414349", source="MONDO:MEDGEN"}
is_a: MONDO:0010765 {source="MESH:C567766", source="OMIM:613080", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1552 {source="MONDO:mim2gene_medgen"} ! CBX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013121
name: glaucoma 3, primary congenital, C
subset: gard_rare {source="GARD:18225", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 3, primary congenital, C" EXACT [MONDO:Lexical, OMIM:613085]
synonym: "GLC3C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613085]
xref: GARD:18225 {source="MONDO:GARD"}
xref: MEDGEN:854718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613085 {source="MONDO:equivalentTo"}
xref: Orphanet:98976 {source="OMIM:613085"}
xref: UMLS:C3888011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854718"}
is_a: MONDO:0000365 ! primary congenital glaucoma
is_a: MONDO:0020366 {source="MONDO:Redundant", source="Orphanet:98976/btnt"} ! congenital glaucoma

[Term]
id: MONDO:0013122
name: glaucoma 3, primary congenital, D
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18226", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 3, primary congenital, D" EXACT [MONDO:Lexical, OMIM:613086]
synonym: "glaucoma 3, primary congenital, type D" EXACT [MONDORULE:1, OMIM:613086]
synonym: "GLC3D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613086]
xref: GARD:18226 {source="MONDO:GARD"}
xref: MEDGEN:416524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567765 {source="MONDO:equivalentTo"}
xref: OMIM:613086 {source="MONDO:equivalentTo"}
xref: Orphanet:98976 {source="OMIM:613086"}
xref: UMLS:C2751316 {source="MEDGEN:416524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000365 ! primary congenital glaucoma
is_a: MONDO:0020366 {source="MONDO:Redundant", source="Orphanet:98976/btnt"} ! congenital glaucoma
is_a: MONDO:0100236 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2-related ocular dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="MONDO:mim2gene_medgen"} ! LTBP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI

[Term]
id: MONDO:0013123
name: atrial septal defect 6
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ASD6" EXACT ABBREVIATION [DOID:0110111, MONDO:Lexical, OMIM:613087]
synonym: "atrial heart septal defect caused by mutation in TLL1" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 6" EXACT [DOID:0110111, MONDORULE:1]
synonym: "atrial septal defect 6" EXACT [DOID:0110111, MONDO:Lexical, OMIM:613087]
synonym: "atrial septal defect type 6" EXACT [MONDORULE:1, OMIM:613087]
synonym: "TLL1 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110111 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q21.1 {source="DOID:0110111"}
xref: MEDGEN:414348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567764 {source="MONDO:equivalentTo"}
xref: OMIM:613087 {source="MONDO:equivalentTo", source="DOID:0110111"}
xref: Orphanet:1478 {source="OMIM:613087"}
xref: UMLS:C2751315 {source="MEDGEN:414348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006664 {source="DC-OMIM:613087", source="DOID:0110111", source="MESH:C567764", source="MONDO:Redundant", source="OMIM:613087"} ! atrial septal defect
intersection_of: MONDO:0006664 ! atrial septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11843 ! TLL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11843 {source="MONDO:mim2gene_medgen"} ! TLL1

[Term]
id: MONDO:0013124
name: pelvic organ prolapse, susceptibility to, 2
subset: predisposition
synonym: "pelvic organ prolapse, susceptibility to, 2" EXACT [OMIM:613088]
synonym: "pelvic organ prolapse, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613088]
synonym: "Pvop2" RELATED [OMIM:613088]
xref: MEDGEN:416523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613088 {source="MONDO:equivalentTo"}
xref: UMLS:C2751314 {source="MEDGEN:416523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613088", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0000082 {source="DC-OMIM:613088", source="https://orcid.org/0000-0001-5208-3432"} ! pelvic organ prolapse
relationship: excluded_subClassOf MONDO:0019347 {source="https://orcid.org/0000-0001-5208-3432"} ! peeling skin syndrome
relationship: predisposes_towards MONDO:0000082 {source="OMIM:613088"} ! pelvic organ prolapse
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013125
name: CLAPO syndrome
def: "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." [Orphanet:168984]
subset: gard_rare {source="GARD:17044", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168984"}
subset: ordo_malformation_syndrome {source="Orphanet:168984"}
subset: orphanet_rare {source="Orphanet:168984"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" RELATED [OMIM:613089]
synonym: "Clapo" RELATED [OMIM:613089]
synonym: "CLAPO syndrome, somatic" EXACT [OMIM:613089, OMIM:genemap2]
synonym: "Lopez-Gutierrez syndrome" RELATED [OMIM:613089]
xref: GARD:17044 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:168984/attributed", source="Orphanet:168984/ntbt", source="Orphanet:168984"}
xref: MEDGEN:416522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567763 {source="MONDO:equivalentTo"}
xref: OMIM:613089 {source="Orphanet:168984", source="MONDO:equivalentTo", source="Orphanet:168984/e"}
xref: Orphanet:168984 {source="OMIM:613089", source="MONDO:equivalentTo"}
xref: SCTID:717765001 {source="MONDO:equivalentTo"}
xref: UMLS:C2751313 {source="MEDGEN:416522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019716 {source="Orphanet:168984"} ! overgrowth syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013126
name: obsolete Bartter syndrome, type 4B
is_obsolete: true
replaced_by: MONDO:0000909

[Term]
id: MONDO:0013127
name: asphyxiating thoracic dystrophy 3
def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." [DOID:0110087, PMID:19442771]
subset: gard_rare {source="GARD:15613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93270", source="Orphanet:93271"}
subset: ordo_malformation_syndrome {source="Orphanet:93270", source="Orphanet:93271"}
subset: orphanet_rare {source="Orphanet:93270", source="Orphanet:93271"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asphyxiating thoracic dystrophy 3" EXACT CLINGEN_LABEL [OMIM:613091]
synonym: "asphyxiating thoracic dystrophy type 3" EXACT [DOID:0110087, MONDORULE:1]
synonym: "ATD3" EXACT ABBREVIATION [DOID:0110087]
synonym: "polydactyly with neonatal chondrodystrophy type 1" EXACT [GARD:0004834, OMIM:613091]
synonym: "polydactyly with neonatal chondrodystrophy type III" EXACT [DOID:0110087, GARD:0004835]
synonym: "polydactyly with neonatal chondrodystrophy, type 3" EXACT [OMIM:613091]
synonym: "polydactyly with neonatal chondrodystrophy, type I" EXACT [DOID:0110087]
synonym: "Saldino-Noonan syndrome" EXACT [DOID:0110087, OMIM:613091]
synonym: "short rib polydactyly syndrome Verma Naumoff type" EXACT [GARD:0004835, MONDO:0019664]
synonym: "short rib-polydactyly syndrome Saldino-Noonan type" EXACT [GARD:0004834, MONDO:0019663]
synonym: "short rib-polydactyly syndrome type 1" EXACT [DOID:0110087, OMIM:613091, Orphanet:93270]
synonym: "short rib-polydactyly syndrome type 3" EXACT [GARD:0004835, OMIM:613091, Orphanet:93271]
synonym: "short rib-polydactyly syndrome type III" EXACT [GARD:0004835]
synonym: "short rib-polydactyly syndrome, type 2B" EXACT [OMIM:613091]
synonym: "short rib-polydactyly syndrome, type IIB" EXACT [DOID:0110087]
synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT [DOID:0110087, MONDO:Lexical, OMIM:613091]
synonym: "SRPS type 1" EXACT [GARD:0004834]
synonym: "SRPS type 3" EXACT [GARD:0004835]
synonym: "SRPS1" EXACT ABBREVIATION [DOID:0110087]
synonym: "SRPS2B" EXACT ABBREVIATION [DOID:0110087]
synonym: "SRPS3" EXACT ABBREVIATION [DOID:0110087]
synonym: "SRTD3" EXACT ABBREVIATION [DOID:0110087, MONDO:Lexical, OMIM:613091]
synonym: "type I short rib polydactyly syndrome" EXACT [DOID:0050549]
synonym: "Verma-Naumoff syndrome" EXACT [DOID:0110087, GARD:0004835, OMIM:613091]
xref: DOID:0050549 {source="MONDO:equivalentTo"}
xref: DOID:0110087 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:15613 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:93271/attributed", source="Orphanet:93271/ntbt", source="Orphanet:93270/attributed", source="Orphanet:93270/ntbt", source="DOID:0110087", source="Orphanet:93270", source="Orphanet:93271"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537602 {source="Orphanet:93271/e", source="MONDO:equivalentTo", source="Orphanet:93271"}
xref: NCIT:C163755 {source="MONDO:equivalentTo"}
xref: OMIM:613091 {source="MONDO:equivalentTo", source="Orphanet:93271/btnt", source="Orphanet:93270/ntbt", source="DOID:0110087", source="Orphanet:93270", source="Orphanet:93271"}
xref: Orphanet:474 {source="OMIM:613091"}
xref: Orphanet:93270 {source="MONDO:equivalentTo", source="OMIM:613091"}
xref: Orphanet:93271 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:254051008 {source="MONDO:equivalentTo"}
xref: SCTID:27330009 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0036069 {source="MEDGEN:19860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0050549", source="MONDO:0019663/inferred", source="MONDO:Redundant"} ! syndromic disease
is_a: MONDO:0015461 {source="MESH:C537602", source="Orphanet:93270", source="Orphanet:93271"} ! short rib-polydactyly syndrome
is_a: MONDO:0018770 {source="DOID:0110087", source="OMIM:613091"} ! Jeune syndrome
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4148" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013128
name: familial juvenile hyperuricemic nephropathy type 2
def: "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." [Orphanet:217330]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13461", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:217330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADTKD-REN" EXACT [Orphanet:217330]
synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in REN" EXACT [PMID:25738250]
synonym: "early-onset hyperuricemia, Anemia, and progressive kidney failure" RELATED [OMIM:613092]
synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in REN" EXACT [MONDO:design_pattern]
synonym: "familial juvenile hyperuricemic nephropathy type 2" EXACT [Orphanet:217330]
synonym: "FJHN type 2" EXACT [Orphanet:217330]
synonym: "HNFJ2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613092]
synonym: "hyperuricemic nephropathy, familial juvenile, 2" RELATED [MONDO:Lexical, OMIM:613092]
synonym: "hyperuricemic nephropathy, familial juvenile, type 2" EXACT [MONDORULE:1, OMIM:613092]
synonym: "REN familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "REN-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:217330]
synonym: "REN-associated FJHN" EXACT [Orphanet:217330]
synonym: "REN-associated kidney disease" EXACT [Orphanet:217330]
synonym: "REN-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:217330]
synonym: "tubulointerstitial kidney disease, autosomal dominant, 4" EXACT [OMIM:613092, OMIM:genemap2]
xref: GARD:13461 {source="MONDO:GARD"}
xref: MEDGEN:414347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567760 {source="MONDO:equivalentTo"}
xref: OMIM:613092 {source="Orphanet:217330/e", source="MONDO:equivalentTo", source="Orphanet:217330"}
xref: Orphanet:217330 {source="MONDO:equivalentTo", source="OMIM:613092"}
xref: SCTID:721840000 {source="MONDO:equivalentTo"}
xref: UMLS:C2751310 {source="MEDGEN:414347", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000608 {source="DC-OMIM:613092", source="MONDO:Redundant", source="OMIM:613092"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:217330", source="Orphanet:217330/inferred"} ! inherited renal tubular disease
intersection_of: MONDO:0000608 ! familial juvenile hyperuricemic nephropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9958 ! REN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9958 {source="MONDO:mim2gene_medgen"} ! REN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013129
name: cone dystrophy 4
def: "Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "achromatopsia 5" RELATED [OMIM:613093]
synonym: "COD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613093]
synonym: "cone dystrophy 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613093]
synonym: "cone dystrophy caused by mutation in PDE6C" EXACT [MONDO:design_pattern]
synonym: "cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:613093]
synonym: "PDE6C cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16449 {source="MONDO:GARD"}
xref: MEDGEN:416518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567758 {source="MONDO:equivalentTo"}
xref: NCIT:C164226 {source="MONDO:equivalentTo"}
xref: OMIM:613093 {source="MONDO:equivalentTo"}
xref: Orphanet:1871 {source="OMIM:613093"}
xref: Orphanet:49382 {source="MONDO:relatedTo", source="OMIM:613093"}
xref: UMLS:C2751308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416518"}
is_a: MONDO:0000455 {source="DC-OMIM:613093", source="MONDO:Redundant"} ! cone dystrophy
intersection_of: MONDO:0000455 ! cone dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8787 ! PDE6C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8787 {source="MONDO:mim2gene_medgen"} ! PDE6C

[Term]
id: MONDO:0013130
name: isolated microphthalmia 4
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDF6 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated microphthalmia caused by mutation in GDF6" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 4" EXACT [DOID:0060836, MONDORULE:1]
synonym: "MCOP4" EXACT ABBREVIATION [DOID:0060836, MONDO:Lexical, OMIM:613094]
synonym: "microphthalmia, isolated 4" RELATED [MONDO:Lexical, OMIM:613094]
synonym: "microphthalmia, isolated type 4" EXACT [MONDORULE:1, OMIM:613094]
xref: DOID:0060836 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q11.0 {source="DOID:0060836"}
xref: MEDGEN:414346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567757 {source="MONDO:equivalentTo"}
xref: OMIM:613094 {source="MONDO:equivalentTo", source="DOID:0060836"}
xref: Orphanet:2542 {source="OMIM:613094", source="DOID:0060836"}
xref: UMLS:C2751307 {source="MEDGEN:414346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000062 {source="DC-OMIM:613094", source="MONDO:Redundant", source="OMIM:613094"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 ! GDF6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 {source="MONDO:mim2gene_medgen"} ! GDF6

[Term]
id: MONDO:0013131
name: polycystic kidney disease 2
def: "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2." [NCIT:C123166]
subset: gard_rare {source="GARD:18599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "APKD2" EXACT ABBREVIATION [DOID:0110859]
synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD2" EXACT [MONDO:design_pattern]
synonym: "Autosomal dominant polycystic kidney disease type 2" EXACT [NCIT:C123166]
synonym: "PKD2" EXACT ABBREVIATION [DOID:0110859, MONDO:Lexical, OMIM:613095]
synonym: "PKD2 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "polycystic kidney disease 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613095]
synonym: "polycystic kidney disease 2 with or without polycystic liver disease" RELATED [OMIM:613095]
synonym: "polycystic kidney disease type 2" EXACT [DOID:0110859, MONDORULE:1, OMIM:613095]
synonym: "polycystic kidney disease, adult, type 2" RELATED [OMIM:613095]
synonym: "polycystic kidney disease, adult, type II" EXACT [DOID:0110859]
xref: DOID:0110859 {source="MONDO:equivalentTo"}
xref: GARD:18599 {source="MONDO:GARD"}
xref: MEDGEN:442699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123166 {source="MONDO:equivalentTo"}
xref: OMIM:613095 {source="DOID:0110859", source="MONDO:equivalentTo"}
xref: Orphanet:730 {source="OMIM:613095"}
xref: SCTID:253879006 {source="MONDO:equivalentTo"}
xref: UMLS:C2751306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442699"}
is_a: MONDO:0004691 {source="DC-OMIM:613095", source="DOID:0110859", source="MONDO:Redundant", source="NCIT:C123166", source="OMIM:613095"} ! autosomal dominant polycystic kidney disease
intersection_of: MONDO:0004691 ! autosomal dominant polycystic kidney disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9009 ! PKD2
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613095"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9009 {source="MONDO:mim2gene_medgen"} ! PKD2

[Term]
id: MONDO:0013132
name: hereditary spastic paraplegia 36
def: "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy." [Orphanet:320365]
subset: gard_rare {source="GARD:17472", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:320365"}
subset: orphanet_rare {source="Orphanet:320365"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 36" EXACT [DOID:0110787]
synonym: "autosomal dominant spastic paraplegia type 36" EXACT [DOID:0110787]
synonym: "hereditary spastic paraplegia type 36" EXACT [DOID:0110787, MONDORULE:2]
synonym: "spastic paraplegia 36, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613096]
synonym: "SPG36" EXACT ABBREVIATION [DOID:0110787, MONDO:Lexical, OMIM:613096, Orphanet:320365]
xref: DOID:0110787 {source="MONDO:equivalentTo"}
xref: GARD:17472 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110787", source="Orphanet:320365", source="Orphanet:320365/attributed", source="Orphanet:320365/ntbt"}
xref: MEDGEN:422457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567930 {source="MONDO:equivalentTo"}
xref: OMIM:613096 {source="DOID:0110787", source="Orphanet:320365", source="MONDO:equivalentTo", source="Orphanet:320365/e"}
xref: Orphanet:320365 {source="DOID:0110787", source="MONDO:equivalentTo", source="OMIM:613096"}
xref: SCTID:723819007 {source="MONDO:equivalentTo"}
xref: UMLS:C2936879 {source="MEDGEN:422457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015087 {source="Orphanet:320365"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110787", source="MESH:C567930", source="MONDO:Redundant", source="OMIM:613096", source="Orphanet:320365/inferred"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0013133
name: melanoma, cutaneous malignant, susceptibility to, 5
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "CMM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613099]
synonym: "melanoma, cutaneous malignant, 5" EXACT [OMIM:613099, OMIM:genemap2]
synonym: "melanoma, cutaneous malignant, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613099]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613099]
synonym: "susceptibility to cutaneous malignant melanoma 5" RELATED [OMIM:613099]
xref: MEDGEN:416516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613099 {source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="OMIM:613099"}
xref: UMLS:C2751295 {source="MONDO:equivalentTo", source="MEDGEN:416516", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613099"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6929 ! MC1R
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:613099", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6929 {source="MONDO:mim2gene_medgen"} ! MC1R
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013134
name: glaucoma 1, open angle, O
def: "Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 1, open angle, 1O" EXACT [OMIM:613100, OMIM:genemap2]
synonym: "glaucoma 1, open angle, O" EXACT [MONDO:Lexical, OMIM:613100]
synonym: "glaucoma 1, open angle, type O" EXACT [MONDORULE:1, OMIM:613100]
synonym: "GLC1O" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613100]
synonym: "NTF4 open-angle glaucoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "open-angle glaucoma caused by mutation in NTF4" EXACT [MONDO:design_pattern]
xref: MEDGEN:416515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567753 {source="MONDO:equivalentTo"}
xref: OMIM:613100 {source="MONDO:equivalentTo"}
xref: UMLS:C2751294 {source="MEDGEN:416515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005338 {source="MONDO:Redundant"} ! open-angle glaucoma
intersection_of: MONDO:0005338 ! open-angle glaucoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8024 ! NTF4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8024 {source="MONDO:mim2gene_medgen"} ! NTF4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013135
name: familial hemophagocytic lymphohistiocytosis 5
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial hemophagocytic lymphohistiocytosis type 5" EXACT [DOID:0110925, MONDORULE:1]
synonym: "FHL5" EXACT ABBREVIATION [DOID:0110925, MONDO:Lexical, OMIM:613101]
synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2" EXACT [MONDO:design_pattern]
synonym: "hemophagocytic lymphohistiocytosis, familial, 5" RELATED [MONDO:Lexical, OMIM:613101]
synonym: "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease" EXACT [OMIM:613101, OMIM:genemap2]
synonym: "hemophagocytic lymphohistiocytosis, familial, type 5" EXACT [MONDORULE:1, OMIM:613101]
synonym: "HLH5" EXACT ABBREVIATION [DOID:0110925]
synonym: "HPLH5" EXACT ABBREVIATION [DOID:0110925]
synonym: "STXBP2 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110925 {source="MONDO:equivalentTo"}
xref: GARD:15614 {source="MONDO:GARD"}
xref: MEDGEN:416514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567752 {source="MONDO:equivalentTo"}
xref: NANDO:2200731 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613101 {source="DOID:0110925", source="MONDO:equivalentTo"}
xref: Orphanet:540 {source="OMIM:613101", source="MONDO:directSiblingOf"}
xref: UMLS:C2751293 {source="MEDGEN:416514", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015541 {source="MONDO:Redundant", source="OMIM:613101", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary hemophagocytic lymphohistiocytosis
intersection_of: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11445 ! STXBP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11445 {source="MONDO:mim2gene_medgen"} ! STXBP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013136
name: hereditary hypotrichosis with recurrent skin vesicles
def: "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." [Orphanet:217407]
subset: gard_rare {source="GARD:17124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217407"}
subset: orphanet_rare {source="Orphanet:217407"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary hypotrichosis with recurrent skin vesicles" EXACT CLINGEN_LABEL []
synonym: "hypotrichosis and recurrent skin vesicles" RELATED [OMIM:613102]
xref: GARD:17124 {source="MONDO:GARD"}
xref: MEDGEN:442697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567751 {source="MONDO:equivalentTo"}
xref: OMIM:613102 {source="Orphanet:217407", source="MONDO:equivalentTo", source="Orphanet:217407/e"}
xref: Orphanet:217407 {source="OMIM:613102", source="MONDO:equivalentTo"}
xref: SCTID:724350009 {source="MONDO:equivalentTo"}
xref: UMLS:C2751292 {source="MEDGEN:442697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="Orphanet:217407"} ! alopecia

[Term]
id: MONDO:0013137
name: choroidal dystrophy, central areolar 2
def: "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15615", source="MONDO:GARD"}
subset: rare
synonym: "CACD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613105]
synonym: "central areolar choroidal dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern]
synonym: "choroidal dystrophy, central areolar 2" EXACT [MONDO:Lexical, OMIM:613105]
synonym: "choroidal dystrophy, central areolar type 2" EXACT [MONDORULE:1, OMIM:613105]
synonym: "macular dystrophy, progressive" RELATED [OMIM:613105]
synonym: "PRPH2 central areolar choroidal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15615 {source="MONDO:GARD"}
xref: MEDGEN:442696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567750 {source="MONDO:equivalentTo"}
xref: OMIM:613105 {source="MONDO:equivalentTo"}
xref: Orphanet:75377 {source="OMIM:613105"}
xref: UMLS:C2751290 {source="MONDO:equivalentTo", source="MEDGEN:442696", source="MONDO:MEDGEN"}
is_a: MONDO:0008982 {source="MONDO:Redundant", source="OMIM:613105", source="Orphanet:75377/btnt"} ! central areolar choroidal dystrophy
intersection_of: MONDO:0008982 ! central areolar choroidal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 ! PRPH2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 {source="MONDO:mim2gene_medgen"} ! PRPH2

[Term]
id: MONDO:0013138
name: vertigo, benign recurrent, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BRV2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613106]
synonym: "vertigo, benign recurrent, 2" EXACT [MONDO:Lexical, OMIM:613106]
xref: MEDGEN:442695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567749 {source="MONDO:equivalentTo"}
xref: OMIM:613106 {source="MONDO:equivalentTo"}
xref: UMLS:C2751289 {source="MEDGEN:442695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004900 {source="OMIM:613106"} ! peripheral vertigo

[Term]
id: MONDO:0013139
name: neutropenia, severe congenital, 2, autosomal dominant
def: "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant severe congenital neutropenia caused by mutation in GFI1" EXACT [MONDO:design_pattern]
synonym: "GFI1 autosomal dominant severe congenital neutropenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neutropenia, severe congenital 2, autosomal dominant" EXACT [OMIM:613107, OMIM:genemap2]
synonym: "neutropenia, severe congenital, 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613107]
synonym: "SCN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613107]
xref: DOID:0112131 {source="MONDO:equivalentTo"}
xref: GARD:15616 {source="MONDO:GARD"}
xref: MEDGEN:413975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567748 {source="MONDO:equivalentTo"}
xref: OMIM:613107 {source="MONDO:equivalentTo"}
xref: Orphanet:486 {source="OMIM:613107"}
xref: UMLS:C2751288 {source="MONDO:equivalentTo", source="MEDGEN:413975", source="MONDO:MEDGEN"}
is_a: MONDO:0008742 {source="MONDO:Redundant", source="Orphanet:486/btnt"} ! autosomal dominant severe congenital neutropenia
is_a: MONDO:0018542 {source="MONDO:Redundant", source="OMIM:613107"} ! severe congenital neutropenia
intersection_of: MONDO:0008742 ! autosomal dominant severe congenital neutropenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4237 ! GFI1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4237 {source="MONDO:mim2gene_medgen"} ! GFI1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013140
name: candidiasis, familial, 4
def: "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CANDF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613108]
synonym: "candidiasis, familial chronic mucocutaneous" RELATED [OMIM:613108]
synonym: "candidiasis, familial, 4" EXACT [MONDO:Lexical, OMIM:613108]
synonym: "candidiasis, familial, 4, autosomal recessive" EXACT [OMIM:613108, OMIM:genemap2]
synonym: "candidiasis, familial, type 4" EXACT [MONDORULE:1, OMIM:613108]
synonym: "CLEC7A familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A" EXACT [MONDO:design_pattern]
xref: GARD:15617 {source="MONDO:GARD"}
xref: MEDGEN:90958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613108 {source="MONDO:equivalentTo"}
xref: Orphanet:1334 {source="OMIM:613108"}
xref: SCTID:235073000 {source="MONDO:equivalentTo"}
xref: UMLS:C0341024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90958"}
is_a: MONDO:0015279 {source="MONDO:Redundant", source="OMIM:613108"} ! chronic mucocutaneous candidiasis
intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14558 ! CLEC7A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14558 {source="MONDO:mim2gene_medgen"} ! CLEC7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013141
name: obsolete autosomal dominant macrothrombocytopenia TUBB1-related
xref: NANDO:2200667 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4971" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800046

[Term]
id: MONDO:0013142
name: neuropathy, hereditary sensory and autonomic, type 2B
def: "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory and autonomic neuropathy type 2B" RELATED [DOID:0070150]
synonym: "hereditary sensory and autonomic neuropathy type IIB" EXACT [DOID:0070150]
synonym: "HSAN2B" EXACT ABBREVIATION [DOID:0070150, MONDO:Lexical, OMIM:613115]
synonym: "neuropathy, hereditary sensory and autonomic, type 2B" EXACT CLINGEN_LABEL []
synonym: "neuropathy, hereditary sensory and autonomic, type IIB" RELATED [MONDO:Lexical, OMIM:613115]
synonym: "RETREG1 hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070150 {source="MONDO:equivalentTo"}
xref: GARD:15618 {source="MONDO:GARD"}
xref: MEDGEN:413474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613115 {source="MONDO:equivalentTo", source="DOID:0070150"}
xref: Orphanet:970 {source="OMIM:613115"}
xref: UMLS:C2751092 {source="MEDGEN:413474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019941 {source="DOID:0070150", source="MONDO:Redundant", source="Orphanet:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2
intersection_of: MONDO:0019941 ! hereditary sensory and autonomic neuropathy type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25964 ! RETREG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25964 {source="MONDO:mim2gene_medgen"} ! RETREG1

[Term]
id: MONDO:0013143
name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217467"}
subset: orphanet_rare {source="Orphanet:217467"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [Orphanet:217467]
synonym: "THPH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613116]
synonym: "thrombophilia 11 due to HRG deficiency" EXACT [OMIM:613116, OMIM:genemap2]
synonym: "thrombophilia due to elevated histidine-rich glycoprotein" RELATED [OMIM:613116]
synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" RELATED [MONDO:Lexical, OMIM:613116]
xref: DOID:0111903 {source="MONDO:equivalentTo"}
xref: GARD:17125 {source="MONDO:GARD"}
xref: ICD10CM:D68.5 {source="Orphanet:217467/attributed", source="Orphanet:217467/ntbt", source="Orphanet:217467"}
xref: MEDGEN:416465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567737 {source="MONDO:equivalentTo"}
xref: OMIM:613116 {source="Orphanet:217467/e", source="MONDO:equivalentTo", source="Orphanet:217467"}
xref: Orphanet:217467 {source="OMIM:613116", source="MONDO:equivalentTo"}
xref: UMLS:C2751090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416465"}
is_a: MONDO:0018374 {source="MONDO:0016320-obsoleted"} ! secondary avascular necrosis
is_a: MONDO:0021181 {source="MONDO:0016320-obsoleted"} ! inherited blood coagulation disorder
is_a: MONDO:0100240 {source="DC-OMIM:613116", source="MESH:C567737", source="MONDO:0016320-obsoleted", source="OMIM:613116"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5181 {source="MONDO:mim2gene_medgen"} ! HRG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013144
name: hereditary antithrombin deficiency
def: "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." [Orphanet:82]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:791"}
subset: ordo_disorder {source="Orphanet:82"}
subset: orphanet_rare {source="Orphanet:82"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antithrombin 3 deficiency" EXACT [OMIM:613118]
synonym: "Antithrombin Deficiency" EXACT [NORD:791]
synonym: "antithrombin III deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613118]
synonym: "AT III deficiency" EXACT [DOID:3755]
synonym: "AT3D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613118]
synonym: "congenital antithrombin III deficiency" EXACT [GARD:0006148]
synonym: "congenital AT-III deficiency" EXACT [GARD:0006148]
synonym: "hereditary antithrombin deficiency" EXACT [GARD:0006148]
synonym: "hereditary thrombophilia due to congenital antithrombin 3 deficiency" EXACT [Orphanet:82]
synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT [DOID:3755]
synonym: "inherited antithrombin deficiency" EXACT [GARD:0006148]
synonym: "thrombophilia 7 due to antithrombin III deficiency" EXACT [OMIM:613118, OMIM:genemap2]
synonym: "thrombophilia due to antithrombin 3 deficiency" EXACT [OMIM:613118]
synonym: "thrombophilia due to antithrombin III deficiency" EXACT [GARD:0006148]
xref: DOID:3755 {source="MONDO:equivalentTo"}
xref: GARD:6148 {source="MONDO:GARD"}
xref: ICD10CM:D68.5 {source="Orphanet:82/inclusion", source="Orphanet:82/ntbt", source="Orphanet:82"}
xref: ICD10CM:D68.59 {source="DOID:3755"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020152 {source="DOID:3755", source="MONDO:equivalentTo"}
xref: NCIT:C98815 {source="DOID:3755"}
xref: NORD:791 {source="MONDO:NORD"}
xref: OMIM:613118 {source="Orphanet:82/e", source="DOID:3755", source="MONDO:equivalentTo", source="Orphanet:82"}
xref: Orphanet:82 {source="MONDO:equivalentTo", source="OMIM:613118"}
xref: SCTID:36351005 {source="DOID:3755", source="MONDO:equivalentTo"}
xref: UMLS:C0272375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75781"}
is_a: MONDO:0001531 {source="DOID:3755/inferred", source="MESH:D020152/inferred", source="MONDO:Redundant", source="NCIT:C98815"} ! blood coagulation disease
is_a: MONDO:0018374 {source="MONDO:0016320-obsoleted"} ! secondary avascular necrosis
is_a: MONDO:0021181 {source="MONDO:0016320-obsoleted"} ! inherited blood coagulation disorder
is_a: MONDO:0100240 {source="DC-OMIM:613118", source="MESH:D020152", source="MONDO:0016320-obsoleted", source="OMIM:613118"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/775 {source="MONDO:mim2gene_medgen"} ! SERPINC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013145
name: Brugada syndrome 6
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BRGDA6" EXACT ABBREVIATION [DOID:0110223, MONDO:Lexical, OMIM:613119]
synonym: "Brugada syndrome 6" EXACT [MONDO:Lexical, OMIM:613119]
synonym: "Brugada syndrome caused by mutation in KCNE3" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 6" EXACT [DOID:0110223, MONDORULE:1, OMIM:613119]
synonym: "KCNE3 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110223 {source="MONDO:equivalentTo"}
xref: GARD:15619 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0110223"}
xref: MEDGEN:413473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567735 {source="MONDO:equivalentTo"}
xref: OMIM:613119 {source="MONDO:equivalentTo", source="DOID:0110223"}
xref: Orphanet:130 {source="OMIM:613119"}
xref: UMLS:C2751089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413473"}
is_a: MONDO:0015263 {source="DC-OMIM:613119", source="DOID:0110223", source="MESH:C567735", source="MONDO:Redundant", source="OMIM:613119"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6243 ! KCNE3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6243 {source="MONDO:mim2gene_medgen"} ! KCNE3

[Term]
id: MONDO:0013146
name: Brugada syndrome 7
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15620", source="MONDO:GARD"}
subset: rare
synonym: "atrial fibrillation, familial, 16" RELATED [OMIM:613120]
synonym: "BRGDA7" EXACT ABBREVIATION [DOID:0110224, MONDO:Lexical, OMIM:613120]
synonym: "Brugada syndrome 7" EXACT [MONDO:Lexical, OMIM:613120]
synonym: "Brugada syndrome caused by mutation in SCN3B" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 7" EXACT [DOID:0110224, MONDORULE:1, OMIM:613120]
synonym: "SCN3B Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110224 {source="MONDO:equivalentTo"}
xref: GARD:15620 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0110224"}
xref: MEDGEN:413472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567734 {source="MONDO:equivalentTo"}
xref: OMIM:613120 {source="MONDO:equivalentTo", source="DOID:0110224"}
xref: Orphanet:130 {source="OMIM:613120"}
xref: Orphanet:334 {source="MONDO:relatedTo", source="OMIM:613120"}
xref: UMLS:C2751088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413472"}
is_a: MONDO:0015263 {source="DC-OMIM:613120", source="DOID:0110224", source="MESH:C567734", source="MONDO:Redundant", source="OMIM:613120"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20665 ! SCN3B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20665 {source="MONDO:mim2gene_medgen"} ! SCN3B

[Term]
id: MONDO:0013147
name: dilated cardiomyopathy 1CC
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1CC" RELATED [MONDO:Lexical, OMIM:613122]
synonym: "cardiomyopathy, dilated, type 1Cc" EXACT [MONDORULE:9, OMIM:613122]
synonym: "CMD1CC" EXACT ABBREVIATION [DOID:0110424, MONDO:Lexical, OMIM:613122]
synonym: "dilated cardiomyopathy type 1CC" EXACT [DOID:0110424, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern]
synonym: "NEXN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110424 {source="MONDO:equivalentTo"}
xref: GARD:15621 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110424"}
xref: MEDGEN:413929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567733 {source="MONDO:equivalentTo"}
xref: OMIM:613122 {source="DOID:0110424", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:613122"}
xref: UMLS:C2751084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413929"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613122"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29557 {source="MONDO:mim2gene_medgen"} ! NEXN

[Term]
id: MONDO:0013148
name: Brugada syndrome 8
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15622", source="MONDO:GARD"}
subset: rare
synonym: "BRGDA8" EXACT ABBREVIATION [DOID:0110225, MONDO:Lexical, OMIM:613123]
synonym: "Brugada syndrome 8" EXACT [MONDO:Lexical, OMIM:613123]
synonym: "Brugada syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 8" EXACT [DOID:0110225, MONDORULE:1, OMIM:613123]
synonym: "HCN4 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110225 {source="MONDO:equivalentTo"}
xref: GARD:15622 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0110225"}
xref: MEDGEN:413928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567732 {source="MONDO:equivalentTo"}
xref: OMIM:613123 {source="DOID:0110225", source="MONDO:equivalentTo"}
xref: Orphanet:130 {source="OMIM:613123"}
xref: UMLS:C2751083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413928"}
is_a: MONDO:0015263 {source="DC-OMIM:613123", source="DOID:0110225", source="MESH:C567732", source="MONDO:Redundant", source="OMIM:613123"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 ! HCN4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 {source="MONDO:mim2gene_medgen"} ! HCN4

[Term]
id: MONDO:0013149
name: hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
synonym: "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features" EXACT [OMIM:613124]
xref: MEDGEN:1677588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567731 {source="MONDO:equivalentTo"}
xref: OMIM:613124 {source="MONDO:equivalentTo"}
xref: UMLS:C5193233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677588"}
is_a: MONDO:0003847 {source="MESH:C567731/inferred"} ! hereditary disease

[Term]
id: MONDO:0013150
name: parkinsonism-dystonia, infantile
def: "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." [Orphanet:238455]
subset: gard_rare {source="GARD:10484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238455"}
subset: orphanet_rare {source="Orphanet:238455"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dopamine transporter deficiency syndrome" EXACT [OMIM:613135]
synonym: "infantile Parkinsonism-dystonia" EXACT [OMIMPS:613135]
synonym: "IPD" EXACT ABBREVIATION [Orphanet:238455]
synonym: "Parkinsonism-dystonia infantile" EXACT [OMIMPS:613135]
synonym: "PARKINSONISM-dystonia, infantile" EXACT [MONDO:Lexical, OMIMPS:613135]
synonym: "parkinsonism-dystonia, infantile" EXACT CLINGEN_LABEL []
synonym: "PKDYS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613135, Orphanet:238455]
xref: GARD:10484 {source="MONDO:GARD"}
xref: MEDGEN:413468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567730 {source="MONDO:equivalentTo"}
xref: NCIT:C129866 {source="MONDO:mondoIsBroaderThanSource"}
xref: OMIMPS:613135 {source="MONDO:equivalentTo"}
xref: Orphanet:238455 {source="OMIM:613135", source="MONDO:equivalentTo"}
xref: SCTID:722763000 {source="MONDO:mondoIsBroaderThanSource"}
xref: UMLS:C2751067 {source="MEDGEN:413468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C129866"} ! syndromic disease
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-5002-8648"} ! combined dystonia
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613135"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013151
name: choroidal dystrophy, central areolar, 3
subset: gard_rare {source="GARD:15623", source="MONDO:GARD"}
subset: rare
synonym: "CACD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613144]
synonym: "choroidal dystrophy, central areolar, 3" EXACT [MONDO:Lexical, OMIM:613144]
synonym: "choroidal dystrophy, central areolar, with or without drusen" RELATED [OMIM:613144]
xref: GARD:15623 {source="MONDO:GARD"}
xref: MEDGEN:442631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567729 {source="MONDO:equivalentTo"}
xref: OMIM:613144 {source="MONDO:equivalentTo"}
xref: Orphanet:75377 {source="OMIM:613144"}
xref: UMLS:C2751055 {source="MEDGEN:442631", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008982 {source="OMIM:613144", source="Orphanet:75377/btnt"} ! central areolar choroidal dystrophy

[Term]
id: MONDO:0013152
name: systemic lupus erythematosus, susceptibility to, 14
subset: predisposition
synonym: "SLEB14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613145]
synonym: "systemic lupus erythematosus, susceptibility to, 14" EXACT [MONDO:Lexical, OMIM:613145]
xref: MEDGEN:413921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613145 {source="MONDO:equivalentTo"}
xref: Orphanet:536 {source="OMIM:613145"}
xref: UMLS:C2751054 {source="MEDGEN:413921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007915 ! systemic lupus erythematosus

[Term]
id: MONDO:0013153
name: inflammatory bowel disease 28
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT [DOID:0110899]
synonym: "IBD28" EXACT ABBREVIATION [DOID:0110899, MONDO:Lexical, OMIM:613148]
synonym: "IL10RA inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory bowel disease 28" EXACT CLINGEN_LABEL []
synonym: "inflammatory bowel disease 28, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613148]
synonym: "inflammatory bowel disease 28, early onset, autosomal recessive" EXACT [OMIM:613148, OMIM:genemap2]
synonym: "inflammatory bowel disease caused by mutation in IL10RA" EXACT [MONDO:design_pattern]
synonym: "inflammatory bowel disease type 28" EXACT [DOID:0110899, MONDORULE:2]
synonym: "inflammatory bowel disease, early-onset, autosomal recessive" EXACT [OMIM:613148]
xref: DOID:0110899 {source="MONDO:equivalentTo"}
xref: GARD:18343 {source="MONDO:GARD"}
xref: MEDGEN:442630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567728 {source="MONDO:equivalentTo"}
xref: NANDO:2200447 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C164676 {source="MONDO:equivalentTo"}
xref: OMIM:613148 {source="DOID:0110899", source="MONDO:equivalentTo"}
xref: Orphanet:238569 {source="OMIM:613148"}
xref: UMLS:C2751053 {source="MONDO:equivalentTo", source="MEDGEN:442630", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="DOID:0110899", source="MESH:C567728", source="MONDO:Redundant", source="OMIM:613148"} ! inflammatory bowel disease
is_a: MONDO:0016542 {source="Orphanet:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5964 ! IL10RA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5964 {source="MONDO:mim2gene_medgen"} ! IL10RA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013154
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
def: "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." [NCIT:C126742]
subset: gard_rare {source="GARD:15624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613150]
synonym: "muscle-eye-brain-POMT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2" EXACT [NCIT:C126742]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" EXACT [MONDO:Lexical, OMIM:613150]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related" EXACT [OMIM:613150]
xref: DOID:0111240 {source="MONDO:equivalentTo"}
xref: GARD:15624 {source="MONDO:GARD"}
xref: MEDGEN:461761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126742 {source="MONDO:equivalentTo"}
xref: OMIM:613150 {source="MONDO:equivalentTo"}
xref: Orphanet:588 {source="OMIM:613150"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:613150"}
xref: UMLS:C3150411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461761"}
is_a: MONDO:0000171 {source="OMIM:613150", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease
is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126742", source="OMIM:613150/inferred"} ! muscular dystrophy
is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 {source="MONDO:mim2gene_medgen"} ! POMT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013155
name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
subset: gard_rare {source="GARD:18455", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy-POMGNT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "MDDGB3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613151]
synonym: "muscular dystrophy, congenital, POMGNT1-related" RELATED [OMIM:613151]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3" RELATED [MONDO:Lexical, OMIM:613151]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613151]
xref: DOID:0112378 {source="MONDO:equivalentTo"}
xref: GARD:18455 {source="MONDO:GARD"}
xref: MEDGEN:461762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613151 {source="MONDO:equivalentTo"}
xref: Orphanet:370959 {source="OMIM:613151"}
xref: UMLS:C3150412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461762"}
is_a: MONDO:0000172 {source="OMIM:613151"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013156
name: muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
subset: gard_rare {source="GARD:18456", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy-FKTN related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "MDDGB4" RELATED DEPRECATED [MONDO:Lexical, OMIM:613152]
synonym: "muscular dystrophy, congenital, Fktn-related" RELATED [OMIM:613152]
synonym: "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4" RELATED [MONDO:Lexical, OMIM:613152]
synonym: "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:613152]
xref: DOID:0112379 {source="MONDO:equivalentTo"}
xref: GARD:18456 {source="MONDO:GARD"}
xref: MEDGEN:413465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613152 {source="MONDO:equivalentTo"}
xref: Orphanet:370980 {source="OMIM:613152"}
xref: UMLS:C2751052 {source="MEDGEN:413465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000172 {source="OMIM:613152"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013157
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
subset: gard_rare {source="GARD:15625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613153]
synonym: "muscle-eye-brain-FKRP related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" RELATED [MONDO:Lexical, OMIM:613153]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" RELATED [OMIM:613153]
xref: DOID:0111241 {source="MONDO:equivalentTo"}
xref: GARD:15625 {source="MONDO:GARD"}
xref: MEDGEN:461763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613153 {source="MONDO:equivalentTo"}
xref: Orphanet:588 {source="OMIM:613153"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:613153"}
xref: UMLS:C3150413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461763"}
is_a: MONDO:0000171 {source="OMIM:613153", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0016156 {source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of FKRP
is_a: MONDO:0018939 {source="https://orcid.org/0000-0002-4142-7153"} ! muscle-eye-brain disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 {source="MONDO:mim2gene_medgen"} ! FKRP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013158
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
def: "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." [NCIT:C126743]
subset: gard_rare {source="GARD:15626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613154]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6" EXACT [NCIT:C126743]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" RELATED [MONDO:Lexical, OMIM:613154]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, large-related" RELATED [OMIM:613154]
xref: DOID:0111242 {source="MONDO:equivalentTo"}
xref: GARD:15626 {source="MONDO:GARD"}
xref: MEDGEN:461764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126743 {source="MONDO:equivalentTo"}
xref: OMIM:613154 {source="MONDO:equivalentTo"}
xref: Orphanet:588 {source="OMIM:613154"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:613154"}
xref: UMLS:C3150414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461764"}
is_a: MONDO:0000171 {source="OMIM:613154", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126743", source="OMIM:613154/inferred"} ! muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6511 {source="MONDO:mim2gene_medgen"} ! LARGE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013159
name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy-POMT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "MDDGB1" RELATED DEPRECATED [MONDO:Lexical, OMIM:613155]
synonym: "muscular dystrophy, congenital, Pomt1-related" RELATED [OMIM:613155]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1" RELATED [MONDO:Lexical, OMIM:613155]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:613155]
xref: DOID:0050588 {source="MONDO:equivalentTo"}
xref: MEDGEN:1774807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613155 {source="MONDO:equivalentTo"}
xref: Orphanet:370959 {source="OMIM:613155", source="MONDO:relatedTo"}
xref: Orphanet:370968 {source="OMIM:613155", source="MONDO:relatedTo"}
xref: UMLS:C5436962 {source="MEDGEN:1774807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000172 {source="DC-OMIM:613155", source="OMIM:613155"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0700070 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9202 {source="MONDO:mim2gene_medgen"} ! POMT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013160
name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
def: "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." [NCIT:C126690]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2" EXACT [NCIT:C126690]
synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2" EXACT DEPRECATED [NCIT:C126690]
synonym: "congenital muscular dystrophy-POMT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "MDDGB2" RELATED DEPRECATED [MONDO:Lexical, OMIM:613156]
synonym: "muscular dystrophy, congenital, Pomt2-related" RELATED [OMIM:613156]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2" RELATED [MONDO:Lexical, OMIM:613156]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:613156]
xref: DOID:0112380 {source="MONDO:equivalentTo"}
xref: MEDGEN:461766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126690 {source="MONDO:equivalentTo"}
xref: OMIM:613156 {source="MONDO:equivalentTo"}
xref: Orphanet:370959 {source="OMIM:613156", source="MONDO:relatedTo"}
xref: Orphanet:370968 {source="OMIM:613156", source="MONDO:relatedTo"}
xref: UMLS:C3150416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461766"}
is_a: MONDO:0000172 {source="DC-OMIM:613156", source="OMIM:613156"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126690", source="OMIM:613156"} ! muscular dystrophy
is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 {source="MONDO:mim2gene_medgen"} ! POMT2

[Term]
id: MONDO:0013161
name: autosomal recessive limb-girdle muscular dystrophy type 2O
def: "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." [Orphanet:206564]
comment: The ClinGen working group (https://clinicalgenome.org/affiliation/40151/) noted that 'autosomal recessive limb-girdle muscular dystrophy type 2O' does not have significant associations with POMGNT1. A publication is in preparation.
subset: gard_rare {source="GARD:12540", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:206564"}
subset: orphanet_rare {source="Orphanet:206564"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1" EXACT [MONDO:design_pattern]
synonym: "LGMD-POMGNT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "LGMD2O" EXACT ABBREVIATION [DOID:0110292, Orphanet:206564]
synonym: "limb-girdle muscular dystrophy type 2O" RELATED [GARD:0012540]
synonym: "MDDGC3" EXACT ABBREVIATION [DOID:0110292, MONDO:Lexical, OMIM:613157]
synonym: "muscular dystrophy, limb-girdle, type 2O" RELATED [OMIM:613157]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" EXACT [DOID:0110292]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" RELATED [MONDO:Lexical, OMIM:613157]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT [DOID:0110292]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related" RELATED [OMIM:613157]
synonym: "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110292 {source="MONDO:equivalentTo"}
xref: GARD:12540 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0110292", source="Orphanet:206564/attributed", source="Orphanet:206564/ntbt", source="Orphanet:206564"}
xref: MEDGEN:461767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613157 {source="Orphanet:206564/e", source="MONDO:equivalentTo", source="DOID:0110292", source="Orphanet:206564"}
xref: Orphanet:206564 {source="OMIM:613157", source="MONDO:equivalentTo", source="DOID:0110292"}
xref: UMLS:C3150417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461767"}
is_a: MONDO:0000173 {source="DC-OMIM:613157", source="OMIM:613157"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110292", source="MONDO:Redundant", source="OMIM:613157", source="Orphanet:206564"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 ! POMGNT1
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1

[Term]
id: MONDO:0013162
name: autosomal recessive limb-girdle muscular dystrophy type 2N
def: "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." [Orphanet:206559]
subset: gard_rare {source="GARD:12539", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206559"}
subset: orphanet_rare {source="Orphanet:206559"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2" EXACT [MONDO:design_pattern]
synonym: "LGMD-POMT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "LGMD2N" EXACT ABBREVIATION [DOID:0110298, Orphanet:206559]
synonym: "limb-girdle muscular dystrophy type 2N" RELATED [GARD:0012539]
synonym: "MDDGC2" EXACT ABBREVIATION [DOID:0110298, MONDO:Lexical, OMIM:613158]
synonym: "muscular dystrophy, limb-girdle, type 2N" RELATED [OMIM:613158]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2" EXACT [DOID:0110298]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2" RELATED [MONDO:Lexical, OMIM:613158]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related" EXACT [DOID:0110298]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related" RELATED [OMIM:613158]
synonym: "POMT2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110298 {source="MONDO:equivalentTo"}
xref: GARD:12539 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:206559", source="Orphanet:206559/attributed", source="Orphanet:206559/ntbt", source="DOID:0110298"}
xref: MEDGEN:461768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613158 {source="Orphanet:206559", source="MONDO:equivalentTo", source="Orphanet:206559/e", source="DOID:0110298"}
xref: Orphanet:206559 {source="OMIM:613158", source="MONDO:equivalentTo", source="DOID:0110298"}
xref: UMLS:C3150418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461768"}
is_a: MONDO:0000173 {source="DC-OMIM:613158", source="OMIM:613158"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110298", source="MONDO:Redundant", source="OMIM:613158", source="Orphanet:206559"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016185 {source="Orphanet:206559"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2
is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 ! POMT2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 {source="MONDO:mim2gene_medgen"} ! POMT2

[Term]
id: MONDO:0013163
name: nephronophthisis-like nephropathy 1
def: "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18180", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "nephronophthisis (disease) caused by mutation in XPNPEP3" EXACT []
synonym: "nephronophthisis-like nephropathy 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613159]
synonym: "nephronophthisis-like nephropathy type 1" EXACT [DOID:0111117, MONDORULE:1, OMIM:613159]
synonym: "NPHP-XPNPEP3" EXACT [PMID:32660933]
synonym: "NPHPL1" EXACT ABBREVIATION [DOID:0111117, MONDO:Lexical, OMIM:613159]
synonym: "XPNPEP3 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111117 {source="MONDO:equivalentTo"}
xref: GARD:18180 {source="MONDO:GARD"}
xref: MEDGEN:461769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613159 {source="DOID:0111117", source="MONDO:equivalentTo"}
xref: Orphanet:655 {source="OMIM:613159"}
xref: UMLS:C3150419 {source="MEDGEN:461769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019005 {source="DC-OMIM:613159", source="DOID:0111117", source="MONDO:Redundant", source="OMIM:613159"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28052 ! XPNPEP3
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613159"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28052 {source="MONDO:mim2gene_medgen"} ! XPNPEP3

[Term]
id: MONDO:0013164
name: beta-ureidopropionase deficiency
def: "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." [Orphanet:65287]
subset: gard_rare {source="GARD:16669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65287"}
subset: orphanet_rare {source="Orphanet:65287"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta-alanine synthase deficiency" EXACT [Orphanet:65287]
synonym: "BETA-ureidopropionase deficiency" RELATED [OMIM:613161]
synonym: "beta-ureidopropionase deficiency" EXACT CLINGEN_LABEL [OMIM:613161]
synonym: "UPB1D" RELATED ABBREVIATION [OMIM:613161]
xref: GARD:16669 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:65287/attributed", source="Orphanet:65287/ntbt", source="Orphanet:65287"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563210 {source="MONDO:equivalentTo"}
xref: OMIM:613161 {source="Orphanet:65287/e", source="MONDO:equivalentTo", source="Orphanet:65287"}
xref: Orphanet:65287 {source="MONDO:equivalentTo", source="OMIM:613161"}
xref: SCTID:124511000 {source="MONDO:equivalentTo"}
xref: UMLS:C1291512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226944"}
is_a: MONDO:0019238 {source="Orphanet:65287"} ! inborn disorder of pyrimidine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16297 {source="MONDO:mim2gene_medgen"} ! UPB1

[Term]
id: MONDO:0013165
name: hereditary spastic paraplegia 45
def: "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported." [Orphanet:320396]
subset: gard_rare {source="GARD:17477", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320396"}
subset: orphanet_rare {source="Orphanet:320396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 45" EXACT [DOID:0110797]
synonym: "autosomal recessive spastic paraplegia type 45" EXACT [DOID:0110797]
synonym: "autosomal recessive spastic paraplegia type 65" EXACT [DOID:0110797, Orphanet:320396]
synonym: "hereditary spastic paraplegia type 45" EXACT [DOID:0110797, MONDORULE:2]
synonym: "NT5C2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 45, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613162]
synonym: "SPG45" EXACT ABBREVIATION [DOID:0110797, MONDO:Lexical, OMIM:613162, Orphanet:320396]
synonym: "SPG65" EXACT ABBREVIATION [DOID:0110797, Orphanet:320396]
xref: DOID:0110797 {source="MONDO:equivalentTo"}
xref: GARD:17477 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320396", source="DOID:0110797", source="Orphanet:320396/attributed", source="Orphanet:320396/ntbt"}
xref: MEDGEN:854816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613162 {source="Orphanet:320396", source="DOID:0110797", source="MONDO:equivalentTo", source="Orphanet:320396/e"}
xref: Orphanet:320396 {source="DOID:0110797", source="MONDO:equivalentTo", source="OMIM:613162"}
xref: SCTID:765753004 {source="MONDO:equivalentTo"}
xref: UMLS:C3888209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854816"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110797", source="MONDO:Redundant", source="OMIM:613162", source="Orphanet:320396/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8022 {source="MONDO:mim2gene_medgen"} ! NT5C2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0013166
name: GABA aminotransaminase deficiency
def: "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration." [Orphanet:2066]
subset: gard_rare {source="GARD:194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2066"}
subset: orphanet_rare {source="Orphanet:2066"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "4 alpha aminobutyrate transaminase deficiency" RELATED [GARD:0000194]
synonym: "ABAT" RELATED ABBREVIATION [GARD:0000194]
synonym: "GABA aminotransferase deficiency" EXACT CLINGEN_LABEL []
synonym: "GABA transaminase deficiency" EXACT [GARD:0000194, Orphanet:2066]
synonym: "GABA-transaminase deficiency" RELATED [OMIM:613163]
synonym: "GABAT" RELATED ABBREVIATION [GARD:0000194]
synonym: "gamma aminobutyrate transaminase deficiency" RELATED [GARD:0000194]
synonym: "gamma aminobutyric acid transaminase deficiency" RELATED [GARD:0000194]
synonym: "gamma-amino butyric acid transaminase deficiency" EXACT [DOID:0060174]
synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [DOID:0060174]
xref: DOID:0060174 {source="MONDO:equivalentTo"}
xref: GARD:194 {source="MONDO:GARD"}
xref: HGNC:23 {source="GARD:0000194"}
xref: ICD10CM:E72.8 {source="Orphanet:2066", source="Orphanet:2066/attributed", source="Orphanet:2066/ntbt"}
xref: MEDGEN:137977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535407 {source="Orphanet:2066", source="MONDO:equivalentTo", source="Orphanet:2066/e"}
xref: NANDO:2200598 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613163 {source="Orphanet:2066", source="MONDO:equivalentTo", source="Orphanet:2066/e", source="DOID:0060174"}
xref: Orphanet:2066 {source="MONDO:equivalentTo", source="GARD:0000194", source="OMIM:613163"}
xref: SCTID:237941007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137977"}
is_a: MONDO:0000698 {source="DOID:0060174"} ! gamma-amino butyric acid metabolism disorder
is_a: MONDO:0017684 {source="Orphanet:2066"} ! disorder of beta and omega amino acid metabolism
relationship: disease_has_basis_in_disruption_of GO:0003867 ! 4-aminobutyrate transaminase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23 {source="MONDO:mim2gene_medgen"} ! ABAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5915" xsd:anyURI

[Term]
id: MONDO:0013167
name: parkinson disease 16
synonym: "PARK16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613164]
synonym: "Parkinson disease 16" RELATED [MONDO:Lexical, OMIM:613164]
xref: MEDGEN:442620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567726 {source="MONDO:equivalentTo"}
xref: OMIM:613164 {source="MONDO:equivalentTo"}
xref: UMLS:C2751012 {source="MEDGEN:442620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DC-OMIM:613164", source="MESH:C567726", source="OMIM:613164"} ! Parkinson disease

[Term]
id: MONDO:0013168
name: dilated cardiomyopathy 1DD
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1DD" RELATED [MONDO:Lexical, OMIM:613172]
synonym: "cardiomyopathy, dilated, type 1Dd" EXACT [MONDORULE:9, OMIM:613172]
synonym: "CMD1DD" EXACT ABBREVIATION [DOID:0110447, MONDO:Lexical, OMIM:613172]
synonym: "dilated cardiomyopathy type 1DD" EXACT [DOID:0110447, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in RBM20" EXACT [MONDO:design_pattern]
synonym: "RBM20 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110447 {source="MONDO:equivalentTo"}
xref: GARD:15627 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110447"}
xref: MEDGEN:416441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567725 {source="MONDO:equivalentTo"}
xref: OMIM:613172 {source="DOID:0110447", source="MONDO:equivalentTo"}
xref: UMLS:C2750995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416441"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613172"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27424 {source="MONDO:mim2gene_medgen"} ! RBM20

[Term]
id: MONDO:0013169
name: chromosome 5p13 duplication syndrome
def: "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." [Orphanet:329802]
subset: gard_rare {source="GARD:17505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329802"}
subset: ordo_malformation_syndrome {source="Orphanet:329802"}
subset: orphanet_rare {source="Orphanet:329802"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5p13 microduplication syndrome" EXACT [DOID:0060460]
synonym: "chromosome 5p13 duplication syndrome" EXACT [OMIM:613174]
synonym: "chromosome 5p13 duplication syndrome, isolated cases" EXACT [OMIM:613174, OMIM:genemap2]
synonym: "dup(5)(p13)" EXACT [Orphanet:329802]
synonym: "trisomy 5p13" EXACT [DOID:0060460, Orphanet:329802]
xref: DOID:0060460 {source="MONDO:equivalentTo"}
xref: GARD:17505 {source="MONDO:GARD"}
xref: MEDGEN:416385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567717 {source="MONDO:equivalentTo"}
xref: OMIM:613174 {source="Orphanet:329802", source="MONDO:equivalentTo", source="Orphanet:329802/e", source="DOID:0060460"}
xref: Orphanet:329802 {source="MONDO:equivalentTo", source="OMIM:613174", source="DOID:0060460"}
xref: UMLS:C2750805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416385"}
is_a: MONDO:0000762 {source="DC-OMIM:613174", source="DOID:0060460"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0015159 {source="Orphanet:329802"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016942 {source="Orphanet:329802"} ! partial trisomy/tetrasomy of the short arm of chromosome 5
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr5p13 ! 5p13 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:329802", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013170
name: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
def: "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13" [DOID:0070139]
subset: gard_rare {source="GARD:17140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221145"}
subset: ordo_malformation_syndrome {source="Orphanet:221145"}
subset: orphanet_rare {source="Orphanet:221145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCL1C" EXACT ABBREVIATION [DOID:0070139, MONDO:Lexical, OMIM:613177]
synonym: "autosomal recessive cutis laxa type 1C" EXACT [DOID:0070139, Orphanet:221145]
synonym: "autosomal recessive cutis laxa type IC" RELATED [DOID:0070139]
synonym: "cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities" RELATED [OMIM:613177]
synonym: "cutis laxa, autosomal recessive, type 1C" RELATED [OMIM:613177]
synonym: "cutis laxa, autosomal recessive, type IC" RELATED [MONDO:Lexical, OMIM:613177]
synonym: "Urban-Rifkin-Davis syndrome" EXACT [OMIM:613177, Orphanet:221145]
xref: DOID:0070139 {source="MONDO:equivalentTo"}
xref: GARD:17140 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:221145", source="Orphanet:221145/attributed", source="Orphanet:221145/ntbt"}
xref: MEDGEN:442566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567716 {source="MONDO:equivalentTo"}
xref: OMIM:613177 {source="Orphanet:221145", source="MONDO:equivalentTo", source="DOID:0070139", source="Orphanet:221145/e"}
xref: Orphanet:221145 {source="OMIM:613177", source="MONDO:equivalentTo", source="DOID:0070139"}
xref: PMID:19836010 {source="DOID:0070139"}
xref: UMLS:C2750804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442566"}
is_a: MONDO:0100237 {source="DC-OMIM:613177", source="DOID:0070139/inferred", source="MESH:C567716", source="MONDO:Redundant", source="OMIM:613177", source="Orphanet:221145"} ! inherited cutis laxa
intersection_of: MONDO:0100237 ! inherited cutis laxa
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6717 ! LTBP4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6717 {source="MONDO:mim2gene_medgen"} ! LTBP4

[Term]
id: MONDO:0013171
name: purine nucleoside phosphorylase deficiency
def: "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." [Orphanet:760]
subset: gard_rare {source="GARD:4606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:760"}
subset: orphanet_rare {source="Orphanet:760"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency of inosine phosphorylase" EXACT [DOID:5813]
synonym: "immunodeficiency due to purine nucleoside phosphorylase deficiency" EXACT [OMIM:613179, OMIM:genemap2]
synonym: "nucleoside phosphorylase deficiency" RELATED [OMIM:613179]
synonym: "PNP deficiency" EXACT [DOID:5813, Orphanet:760]
synonym: "PNPase deficiency" EXACT [Orphanet:760]
synonym: "purine nucleoside phosphorylase deficiency" EXACT CLINGEN_LABEL [DOID:5813, OMIM:613179]
synonym: "purine-nucleoside phosphorylase deficiency" EXACT [DOID:5813, NCIT:C3963]
xref: DOID:5813 {source="MONDO:equivalentTo"}
xref: GARD:4606 {source="MONDO:GARD"}
xref: HGNC:7892 {source="GARD:0004606"}
xref: ICD10CM:D81.5 {source="Orphanet:760/e", source="Orphanet:760/specific", source="DOID:5813", source="Orphanet:760"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562587 {source="MONDO:equivalentTo", source="DOID:5813"}
xref: NANDO:1200325 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200698 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C176817 {source="MONDO:equivalentTo"}
xref: NCIT:C3963 {source="MONDO:equivalentTo", source="DOID:5813"}
xref: OMIM:613179 {source="Orphanet:760/e", source="MONDO:equivalentTo", source="DOID:5813", source="Orphanet:760"}
xref: Orphanet:760 {source="OMIM:613179", source="MONDO:equivalentTo"}
xref: SCTID:124271005 {source="DOID:5813"}
xref: SCTID:191000008 {source="DOID:5813"}
xref: SCTID:60743005 {source="MONDO:equivalentTo", source="DOID:5813"}
xref: UMLS:C0268125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75653"}
is_a: MONDO:0019236 {source="Orphanet:760"} ! inborn disorder of purine metabolism
relationship: excluded_subClassOf MONDO:0015974 {source="NCIT:C3963", source="https://github.com/monarch-initiative/mondo-build/issues/108", source="https://orcid.org/0000-0001-5208-3432"} ! severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:760", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7892 {source="MONDO:mim2gene_medgen"} ! PNP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency" xsd:anyURI {source="GARD:0004606"}

[Term]
id: MONDO:0013172
name: polymicrogyria with optic nerve hypoplasia
def: "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." [Orphanet:250972]
subset: gard_rare {source="GARD:20687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:250972"}
subset: ordo_malformation_syndrome {source="Orphanet:250972"}
subset: orphanet_rare {source="Orphanet:250972"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDCBM8" RELATED ABBREVIATION [OMIM:613180]
synonym: "cortical dysplasia, Complex, with Other brain malformations 8" RELATED [OMIM:613180]
synonym: "cortical dysplasia, complex, with other brain malformations 8" RELATED [OMIM:613180]
synonym: "polymicrogyria with optic nerve hypoplasia" EXACT [OMIM:613180]
xref: GARD:20687 {source="MONDO:GARD"}
xref: MEDGEN:442565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567715 {source="MONDO:equivalentTo"}
xref: OMIM:613180 {source="MONDO:equivalentObsolete", source="Orphanet:250972", source="Orphanet:250972/e"}
xref: Orphanet:250972 {source="MONDO:equivalentTo", source="OMIM:613180"}
xref: UMLS:C2750798 {source="MEDGEN:442565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000904 {source="OMIM:613180"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:250972", source="Orphanet:250972/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:250972", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015220 {source="MONDO:0017120-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with a central nervous system malformation as major feature
relationship: excluded_subClassOf MONDO:0015310 {source="Orphanet:250972", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic optic nerve hypoplasia
relationship: excluded_subClassOf MONDO:0015655 {source="Orphanet:250972", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cerebral malformation with epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12410 {source="MONDO:mim2gene_medgen"} ! TUBA8

[Term]
id: MONDO:0013173
name: intellectual disability, autosomal recessive 13
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22548", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 13" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613192]
synonym: "intellectual disability, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:613192]
synonym: "mental retardation, autosomal recessive 13" RELATED DEPRECATED [MONDO:Lexical, OMIM:613192]
synonym: "mental retardation, autosomal recessive type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:613192]
synonym: "MRT13" RELATED DEPRECATED [MONDO:Lexical, OMIM:613192]
synonym: "TRAPPC9 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081098 {source="MONDO:equivalentTo"}
xref: GARD:22548 {source="MONDO:GARD"}
xref: MEDGEN:442564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567714 {source="MONDO:equivalentTo"}
xref: OMIM:613192 {source="MONDO:equivalentTo"}
xref: UMLS:C2750791 {source="MONDO:equivalentTo", source="MEDGEN:442564", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:613192", source="MONDO:Redundant", source="OMIM:613192"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30832 ! TRAPPC9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30832 {source="MONDO:mim2gene_medgen"} ! TRAPPC9

[Term]
id: MONDO:0013174
name: primary ciliary dyskinesia 13
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15628", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD13" EXACT ABBREVIATION [DOID:0110618, MONDO:Lexical, OMIM:613193]
synonym: "ciliary dyskinesia, primary, 13" RELATED [MONDO:Lexical, OMIM:613193]
synonym: "ciliary dyskinesia, primary, 13, with or without situs inversus" RELATED [OMIM:613193]
synonym: "ciliary dyskinesia, primary, type 13" EXACT [MONDORULE:2, OMIM:613193]
synonym: "DNAAF1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 13" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 13 with or without situs inversus" EXACT [DOID:0110618]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 13" EXACT [DOID:0110618, MONDORULE:2]
xref: DOID:0110618 {source="MONDO:equivalentTo"}
xref: GARD:15628 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110618"}
xref: MEDGEN:413399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567713 {source="MONDO:equivalentTo"}
xref: OMIM:613193 {source="MONDO:equivalentTo", source="DOID:0110618"}
xref: Orphanet:244 {source="OMIM:613193"}
xref: UMLS:C2750790 {source="MEDGEN:413399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:613193", source="DOID:0110618", source="MESH:C567713", source="MONDO:Redundant", source="OMIM:613193"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30539 ! DNAAF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30539 {source="MONDO:mim2gene_medgen"} ! DNAAF1

[Term]
id: MONDO:0013175
name: retinitis pigmentosa 50
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BEST1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 50" EXACT [MONDO:Lexical, OMIM:613194]
synonym: "retinitis pigmentosa caused by mutation in BEST1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 50" EXACT [DOID:0110396, MONDORULE:2, OMIM:613194]
synonym: "retinitis pigmentosa, concentric" RELATED [OMIM:613194]
synonym: "retinitis pigmentosa-50" EXACT [OMIM:613194, OMIM:genemap2]
synonym: "RP50" EXACT ABBREVIATION [DOID:0110396, MONDO:Lexical, OMIM:613194]
xref: DOID:0110396 {source="MONDO:equivalentTo"}
xref: GARD:15629 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110396"}
xref: MEDGEN:442563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567712 {source="MONDO:equivalentTo"}
xref: OMIM:613194 {source="MONDO:equivalentTo", source="DOID:0110396"}
xref: UMLS:C2750789 {source="MEDGEN:442563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:613194", source="DOID:0110396", source="MESH:C567712", source="MONDO:Redundant", source="OMIM:613194"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 ! BEST1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013176
name: Weill-Marchesani 4 syndrome, recessive
subset: gard_rare {source="GARD:17579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363992"}
subset: orphanet_rare {source="Orphanet:363992"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "15q26.3 microdeletion syndrome" EXACT [Orphanet:363992]
synonym: "ichthyosis-short stature-brachydactyly-microspherophakia syndrome" EXACT CLINGEN_LABEL [Orphanet:363992]
synonym: "Weill-Marchesani syndrome 4" EXACT [OMIM:613195]
synonym: "Weill-Marchesani-like syndrome" EXACT [OMIM:613195]
synonym: "WMS4" EXACT ABBREVIATION [OMIM:613195]
xref: GARD:17579 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:363992/attributed", source="Orphanet:363992/ntbt", source="Orphanet:363992"}
xref: MEDGEN:416383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567710 {source="MONDO:equivalentTo"}
xref: OMIM:613195 {source="Orphanet:363992", source="MONDO:equivalentTo", source="Orphanet:363992/e"}
xref: Orphanet:363992 {source="MONDO:equivalentTo", source="OMIM:613195"}
xref: UMLS:C2750787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416383"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0018096 {source="DC-OMIM:613195", source="OMIM:613195"} ! Weill-Marchesani syndrome
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17109 {source="MONDO:mim2gene_medgen"} ! ADAMTS17
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0013177
name: congenital muscular dystrophy due to integrin alpha-7 deficiency
def: "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." [Orphanet:34520]
subset: gard_rare {source="GARD:12587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:34520"}
subset: orphanet_rare {source="Orphanet:34520"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy caused by mutation in ITGA7" EXACT [MONDO:design_pattern]
synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [DOID:0110639]
synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT [DOID:0110639, Orphanet:34520]
synonym: "congenital myopathy due to integrin alpha-7 deficiency" EXACT [DOID:0110639]
synonym: "ITGA7 congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency" RELATED [OMIM:613204]
synonym: "muscular dystrophy, congenital, due to ITGA7 deficiency" RELATED [GARD:0012587]
synonym: "myopathy, congenital, due to integrin Alpha-7 deficiency" RELATED [OMIM:613204]
xref: DOID:0110639 {source="MONDO:equivalentTo"}
xref: GARD:12587 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="DOID:0110639", source="Orphanet:34520/attributed", source="Orphanet:34520/ntbt", source="Orphanet:34520"}
xref: MEDGEN:413044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567709 {source="MONDO:equivalentTo"}
xref: OMIM:613204 {source="Orphanet:34520/e", source="DOID:0110639", source="MONDO:equivalentTo", source="Orphanet:34520"}
xref: Orphanet:34520 {source="OMIM:613204", source="DOID:0110639", source="MONDO:equivalentTo"}
xref: UMLS:C2750786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413044"}
is_a: MONDO:0019950 {source="DOID:0110639", source="MONDO:Redundant", source="Orphanet:34520"} ! congenital muscular dystrophy
intersection_of: MONDO:0019950 ! congenital muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6143 ! ITGA7
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6143 {source="MONDO:mim2gene_medgen"} ! ITGA7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013178
name: congenital muscular dystrophy due to LMNA mutation
def: "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." [Orphanet:157973]
subset: gard_rare {source="GARD:12585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157973"}
subset: orphanet_rare {source="Orphanet:157973"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "congenital muscular dystrophy LMNA-related" EXACT [DOID:0110640]
synonym: "L-CMD" EXACT [DOID:0110640, Orphanet:157973]
synonym: "LMNA congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LMNA-related congenital muscular dystrophy" EXACT [DOID:0110640, Orphanet:157973]
synonym: "MDCL" RELATED ABBREVIATION [OMIM:613205]
synonym: "muscular dystrophy Congenital, LMNA-related" EXACT [NCIT:C148369]
synonym: "muscular dystrophy, congenital" EXACT [OMIM:613205, OMIM:genemap2]
synonym: "muscular dystrophy, congenital, LMNA-related" RELATED [GARD:0012585, OMIM:613205]
xref: DOID:0110640 {source="MONDO:equivalentTo"}
xref: GARD:12585 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:157973/attributed", source="Orphanet:157973/ntbt", source="Orphanet:157973", source="DOID:0110640"}
xref: MEDGEN:413043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567708 {source="MONDO:equivalentTo"}
xref: NANDO:2200866 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C148369 {source="MONDO:equivalentTo"}
xref: OMIM:613205 {source="Orphanet:157973", source="MONDO:equivalentTo", source="Orphanet:157973/e", source="DOID:0110640"}
xref: Orphanet:157973 {source="MONDO:equivalentTo", source="OMIM:613205", source="DOID:0110640"}
xref: UMLS:C2750785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413043"}
is_a: MONDO:0019950 {source="DOID:0110640", source="MONDO:Redundant", source="Orphanet:157973"} ! congenital muscular dystrophy
intersection_of: MONDO:0019950 ! congenital muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 ! LMNA
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation" xsd:anyURI {source="GARD:0012585"}

[Term]
id: MONDO:0013179
name: hereditary spastic paraplegia 44
def: "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein." [Orphanet:320401]
subset: gard_rare {source="GARD:17478", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320401"}
subset: orphanet_rare {source="Orphanet:320401"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GJC2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 44" EXACT [DOID:0110796]
synonym: "autosomal recessive spastic paraplegia type 44" RELATED [Orphanet:320401]
synonym: "GJC2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 44" EXACT [DOID:0110796, MONDORULE:2]
synonym: "spastic paraplegia 44, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613206]
synonym: "SPG44" EXACT ABBREVIATION [DOID:0110796, MONDO:Lexical, OMIM:613206, Orphanet:320401]
xref: DOID:0110796 {source="MONDO:equivalentTo"}
xref: GARD:17478 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320401", source="DOID:0110796", source="Orphanet:320401/attributed", source="Orphanet:320401/ntbt"}
xref: MEDGEN:413042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567707 {source="MONDO:equivalentTo"}
xref: OMIM:613206 {source="MONDO:equivalentTo", source="Orphanet:320401", source="Orphanet:320401/e", source="DOID:0110796"}
xref: Orphanet:320401 {source="MONDO:equivalentTo", source="OMIM:613206", source="DOID:0110796"}
xref: SCTID:723821002 {source="MONDO:equivalentTo"}
xref: UMLS:C2750784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413042"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110796", source="MESH:C567707", source="MONDO:Redundant", source="OMIM:613206", source="Orphanet:320401/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 {source="MONDO:mim2gene_medgen"} ! GJC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0013180
name: asthma-related traits, susceptibility to, 8
subset: predisposition
synonym: "ASRT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613207]
synonym: "asthma-RELATED traits, susceptibility to, 8" RELATED [OMIM:613207]
synonym: "asthma-related traits, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:613207]
synonym: "Rhinoconjunctivitis, susceptibility to" RELATED [OMIM:613207]
xref: MEDGEN:442562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613207 {source="MONDO:equivalentTo"}
xref: UMLS:C2750782 {source="MEDGEN:442562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010940 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited susceptibility to asthma

[Term]
id: MONDO:0013181
name: amelogenesis imperfecta hypomaturation type 2A3
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15630", source="MONDO:GARD"}
subset: rare
synonym: "AI2A3" EXACT ABBREVIATION [DOID:0110061, MONDO:Lexical, OMIM:613211]
synonym: "amelogenesis imperfecta caused by mutation in WDR72" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation type 2A3" EXACT CLINGEN_LABEL []
synonym: "amelogenesis imperfecta hypomaturation type IIA3" EXACT [DOID:0110061]
synonym: "amelogenesis imperfecta type IIA3" EXACT [DOID:0110061]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA3" RELATED [MONDO:Lexical, OMIM:613211]
synonym: "amelogenesis imperfecta, type IIA3" EXACT [OMIM:613211, OMIM:genemap2]
synonym: "WDR72 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110061 {source="MONDO:equivalentTo"}
xref: GARD:15630 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110061"}
xref: MEDGEN:416381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567706 {source="MONDO:equivalentTo"}
xref: OMIM:613211 {source="MONDO:equivalentTo", source="DOID:0110061"}
xref: Orphanet:100033 {source="OMIM:613211"}
xref: UMLS:C2750771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416381"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2
is_a: MONDO:0019507 {source="DOID:0110061", source="MESH:C567706", source="MONDO:Redundant", source="OMIM:613211"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26790 ! WDR72
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26790 {source="MONDO:mim2gene_medgen"} ! WDR72
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013182
name: chromosome 17p13.3 duplication syndrome
def: "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." [Orphanet:217385]
subset: gard_rare {source="GARD:17122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217385"}
subset: ordo_malformation_syndrome {source="Orphanet:217385"}
subset: orphanet_rare {source="Orphanet:217385"}
subset: rare
synonym: "17p13.3 duplication syndrome" EXACT [DOID:0060432, Orphanet:217385]
synonym: "17p13.3 microduplication syndrome" EXACT [DOID:0060432]
synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT [DOID:0060432]
synonym: "chromosome 17p13.3, centromeric, DUPLICATION syndrome" RELATED [OMIM:613215]
synonym: "dup(17)(p13.3)" EXACT [Orphanet:217385]
synonym: "trisomy 17p13.3" EXACT [DOID:0060432, Orphanet:217385]
xref: DOID:0060432 {source="MONDO:equivalentTo"}
xref: GARD:17122 {source="MONDO:GARD"}
xref: MEDGEN:814630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567705 {source="MONDO:equivalentTo"}
xref: OMIM:613215 {source="Orphanet:217385/e", source="DOID:0060432", source="MONDO:equivalentTo", source="Orphanet:217385"}
xref: Orphanet:217385 {source="OMIM:613215", source="DOID:0060432", source="MONDO:equivalentTo"}
xref: SCTID:719582007 {source="MONDO:equivalentTo"}
xref: UMLS:C3808300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814630"}
is_a: MONDO:0000762 {source="DC-OMIM:613215", source="DOID:0060432"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0015159 {source="Orphanet:217385"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016950 {source="Orphanet:217385"} ! partial duplication of the short arm of chromosome 17
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr17p13.3 ! 17p13.3 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:217385", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013183
name: congenital stationary night blindness 1C
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15631", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness 1C" EXACT CLINGEN_LABEL []
synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT [DOID:0110867]
synonym: "congenital stationary night blindness caused by mutation in TRPM1" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1C" EXACT [DOID:0110867, MONDORULE:4]
synonym: "CSNB, complete, autosomal recessive" RELATED [OMIM:613216]
synonym: "CSNB1C" EXACT ABBREVIATION [DOID:0110867, MONDO:Lexical, OMIM:613216]
synonym: "night blindness, congenital stationary (complete), 1C, autosomal recessive" EXACT [OMIM:613216, OMIM:genemap2]
synonym: "night blindness, congenital stationary, type 1C" RELATED [MONDO:Lexical, OMIM:613216]
synonym: "TRPM1 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110867 {source="MONDO:equivalentTo"}
xref: GARD:15631 {source="MONDO:GARD"}
xref: MEDGEN:416373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567704 {source="MONDO:equivalentTo"}
xref: OMIM:613216 {source="DOID:0110867", source="MONDO:equivalentTo"}
xref: UMLS:C2750747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416373"}
is_a: MONDO:0016293 {source="DC-OMIM:613216", source="DOID:0110867", source="MONDO:Redundant", source="OMIM:613216"} ! congenital stationary night blindness
is_a: MONDO:0800402 {source="https://clinicalgenome.org/affiliation/40072/"} ! TRPM1-related retinopathy
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7146 ! TRPM1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7146 {source="MONDO:mim2gene_medgen"} ! TRPM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0013184
name: congenital diarrhea 5 with tufting enteropathy
def: "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure." [Orphanet:92050]
subset: gard_rare {source="GARD:10630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:92050"}
subset: orphanet_rare {source="Orphanet:92050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital diarrhea 5 with tufting enteropathy" EXACT CLINGEN_LABEL []
synonym: "congenital enteropathy" RELATED [GARD:0010630]
synonym: "congenital familial intractable diarrhea with enterocytes assembly abnormalities" RELATED [GARD:0010630]
synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT [DOID:0060776]
synonym: "congenital familial intractable diarrhoea with enterocytes assembly abnormalities" RELATED OMO:0003005 []
synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT OMO:0003005 []
synonym: "congenital tufting enteropathy" EXACT [DOID:0060776]
synonym: "DIAR5" EXACT ABBREVIATION [DOID:0060776, MONDO:Lexical, OMIM:613217]
synonym: "diarrhea 5, with tufting enteropathy, congenital" RELATED [MONDO:Lexical, OMIM:613217]
synonym: "diarrhoea 5, with tufting enteropathy, congenital" RELATED OMO:0003005 []
synonym: "enteropathy, congenital tufting" RELATED [OMIM:613217]
synonym: "EPCAM secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EPCAM secretory diarrhoea" EXACT OMO:0003005 []
synonym: "IED" EXACT ABBREVIATION [Orphanet:92050]
synonym: "intestinal epithelial cell dysplasia" RELATED [OMIM:613217]
synonym: "intestinal epithelial dysplasia" EXACT [Orphanet:92050]
synonym: "secretory diarrhea caused by mutation in EPCAM" EXACT [MONDO:design_pattern]
synonym: "secretory diarrhoea caused by mutation in EPCAM" EXACT OMO:0003005 []
synonym: "tufting enteropathy" EXACT [DOID:0060776]
xref: DOID:0060776 {source="MONDO:equivalentTo"}
xref: GARD:10630 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="DOID:0060776", source="Orphanet:92050/attributed", source="Orphanet:92050/ntbt", source="Orphanet:92050"}
xref: MEDGEN:413031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567703 {source="MONDO:equivalentTo"}
xref: OMIM:613217 {source="Orphanet:92050/e", source="DOID:0060776", source="MONDO:equivalentTo", source="Orphanet:92050"}
xref: Orphanet:92050 {source="DOID:0060776", source="MONDO:equivalentTo", source="OMIM:613217"}
xref: SCTID:715669000 {source="MONDO:equivalentTo"}
xref: UMLS:C2750737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413031"}
is_a: MONDO:0000824 {source="DC-OMIM:613217", source="DOID:0060776", source="OMIM:613217"} ! congenital diarrhea
intersection_of: MONDO:0000249 {source="MONDO:mim2gene_medgen"} ! secretory diarrhea
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11529 {source="MONDO:mim2gene_medgen"} ! EPCAM
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11529 {source="MONDO:mim2gene_medgen"} ! EPCAM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013185
name: leprosy, susceptibility to, 5
def: "Any leprosy in which the cause of the disease is a mutation in the TLR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "leprosy caused by mutation in TLR1" EXACT [MONDO:design_pattern]
synonym: "leprosy, protection against" RELATED [OMIM:613223]
synonym: "leprosy, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613223]
synonym: "leprosy, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613223]
synonym: "LPRS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613223]
synonym: "susceptibility to leprosy 5" RELATED [OMIM:613223]
synonym: "TLR1 leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:442551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613223 {source="MONDO:equivalentTo"}
xref: Orphanet:548 {source="OMIM:613223"}
xref: UMLS:C2750733 {source="MEDGEN:442551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11847 ! TLR1
intersection_of: predisposes_towards MONDO:0005124 ! leprosy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11847 {source="MONDO:mim2gene_medgen"} ! TLR1

[Term]
id: MONDO:0013186
name: Noonan syndrome 6
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Noonan syndrome 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613224]
synonym: "Noonan syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 6" EXACT [DOID:0060584, MONDORULE:1, OMIM:613224]
synonym: "NRAS gene related Noonan syndrome" RELATED [GARD:0010701]
synonym: "NRAS Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NS6" EXACT ABBREVIATION [DOID:0060584, MONDO:Lexical, OMIM:613224]
xref: DOID:0060584 {source="MONDO:equivalentTo"}
xref: GARD:10701 {source="MONDO:GARD"}
xref: MEDGEN:413028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548084 {source="MONDO:equivalentTo"}
xref: NCIT:C176934 {source="MONDO:equivalentTo"}
xref: OMIM:613224 {source="DOID:0060584", source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:613224"}
xref: UMLS:C2750732 {source="MEDGEN:413028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018997 {source="DC-OMIM:613224", source="DOID:0060584", source="MESH:C548084", source="MONDO:Redundant", source="OMIM:613224"} ! Noonan syndrome
intersection_of: MONDO:0018997 ! Noonan syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 ! NRAS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 {source="MONDO:mim2gene_medgen"} ! NRAS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6" xsd:anyURI {source="GARD:0010701"}

[Term]
id: MONDO:0013187
name: factor XIII, A subunit, deficiency of
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15633", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "factor XIII, A subunit, deficiency of" EXACT CLINGEN_LABEL [OMIM:613225]
synonym: "factor XIIIA deficiency" EXACT [OMIM:613225, OMIM:genemap2]
synonym: "hereditary factor XIII A subunit deficiency" EXACT []
synonym: "hereditary factor XIII alpha subunit deficiency" EXACT []
synonym: "hereditary factor XIII type II deficiency" EXACT []
xref: GARD:15633 {source="MONDO:GARD"}
xref: MEDGEN:442497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567691 {source="MONDO:equivalentTo"}
xref: OMIM:613225 {source="MONDO:equivalentTo"}
xref: Orphanet:331 {source="OMIM:613225"}
xref: SCTID:439455002 {source="MONDO:equivalentTo"}
xref: UMLS:C2750514 {source="MEDGEN:442497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018029 {source="MESH:C567691", source="Orphanet:331/btnt"} ! congenital factor XIII deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3531 {source="MONDO:mim2gene_medgen"} ! F13A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013188
name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CA8 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CAMRQ3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613227]
synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3" RELATED [OMIM:613227]
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" RELATED DEPRECATED [OMIM:613227]
synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613227]
synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3" EXACT [MONDORULE:1, OMIM:613227]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" EXACT DEPRECATED [MONDO:Lexical, OMIM:613227]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:613227]
synonym: "dysequilibrium syndrome caused by mutation in CA8" EXACT [MONDO:design_pattern]
xref: GARD:15634 {source="MONDO:GARD"}
xref: MEDGEN:442496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567690 {source="MONDO:equivalentTo"}
xref: OMIM:613227 {source="MONDO:equivalentTo"}
xref: Orphanet:1766 {source="OMIM:613227"}
xref: UMLS:C2750509 {source="MEDGEN:442496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:613227", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium
intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1382 ! CA8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1382 {source="MONDO:mim2gene_medgen"} ! CA8

[Term]
id: MONDO:0013189
name: trichotillomania
def: "A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair." [NCIT:C94336]
synonym: "trichotillomania" EXACT [MONDO:Lexical, OMIM:613229]
synonym: "trichotillomania, multifactorial" EXACT [OMIM:613229, OMIM:genemap2]
synonym: "TTM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613229]
xref: DOID:0050587 {source="MONDO:equivalentTo"}
xref: ICD10CM:F63.3 {source="MONDO:equivalentTo"}
xref: ICD9:312.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014256 {source="MONDO:equivalentTo"}
xref: NCIT:C94336 {source="MONDO:equivalentTo"}
xref: OMIM:613229 {source="DOID:0050587", source="MONDO:equivalentTo"}
xref: SCTID:17155009 {source="MONDO:equivalentTo"}
xref: UMLS:C0040953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21654"}
is_a: MONDO:0001162 {source="DOID:0050587", source="NCIT:C94336"} ! impulse control disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20297 {source="MONDO:mim2gene_medgen"} ! SLITRK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013190
name: factor XIII, b subunit, deficiency of
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "factor XIII, b subunit, deficiency of" EXACT CLINGEN_LABEL [OMIM:613235]
synonym: "factor XIIIB deficiency" EXACT [OMIM:613235, OMIM:genemap2]
xref: GARD:15635 {source="MONDO:GARD"}
xref: MEDGEN:442490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567688 {source="MONDO:equivalentTo"}
xref: OMIM:613235 {source="MONDO:equivalentTo"}
xref: Orphanet:331 {source="OMIM:613235"}
xref: UMLS:C2750481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442490"}
is_a: MONDO:0018029 {source="MESH:C567688", source="Orphanet:331/btnt"} ! congenital factor XIII deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3534 {source="MONDO:mim2gene_medgen"} ! F13B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013191
name: focal segmental glomerulosclerosis 5
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15636", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "focal segmental glomerulosclerosis 5" EXACT [MONDO:Lexical, OMIM:613237]
synonym: "focal segmental glomerulosclerosis caused by mutation in INF2" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 5" EXACT [DOID:0111130, MONDORULE:1, OMIM:613237]
synonym: "FSGS5" EXACT ABBREVIATION [DOID:0111130, MONDO:Lexical, OMIM:613237]
synonym: "glomerulosclerosis, focal segmental, 5" RELATED [OMIM:613237]
synonym: "INF2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111130 {source="MONDO:equivalentTo"}
xref: GARD:15636 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="DOID:0111130"}
xref: MEDGEN:413315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567687 {source="MONDO:equivalentTo"}
xref: OMIM:613237 {source="MONDO:equivalentTo", source="DOID:0111130"}
xref: UMLS:C2750475 {source="MONDO:equivalentTo", source="MEDGEN:413315", source="MONDO:MEDGEN"}
is_a: MONDO:0005363 {source="DC-OMIM:613237", source="DOID:0111130", source="MESH:C567687", source="MONDO:Redundant", source="OMIM:613237"} ! inherited focal segmental glomerulosclerosis
intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23791 ! INF2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23791 {source="MONDO:mim2gene_medgen"} ! INF2

[Term]
id: MONDO:0013192
name: spondyloarthropathy, susceptibility to, 3
subset: predisposition
synonym: "SPDA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613238]
synonym: "spondyloarthropathy, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613238]
xref: DOID:0080605 {source="MONDO:equivalentTo"}
xref: MEDGEN:413852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613238 {source="MONDO:equivalentTo"}
xref: UMLS:C2750474 {source="MEDGEN:413852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024512 {source="OMIM:613238"} ! spondyloarthropathy, susceptibility to

[Term]
id: MONDO:0013193
name: thyrotoxic periodic paralysis, susceptibility to, 2
def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "KCNJ18 thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "thyrotoxic periodic paralysis caused by mutation in KCNJ18" EXACT [MONDO:design_pattern]
synonym: "thyrotoxic periodic paralysis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613239]
synonym: "thyrotoxic periodic paralysis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613239]
synonym: "TTPP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613239]
xref: MEDGEN:413851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613239 {source="MONDO:equivalentTo"}
xref: Orphanet:79102 {source="OMIM:613239"}
xref: UMLS:C2750473 {source="MEDGEN:413851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613239", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39080 ! KCNJ18
intersection_of: predisposes_towards MONDO:0019201 ! thyrotoxic periodic paralysis
relationship: excluded_subClassOf MONDO:0019201 {source="OMIM:613239", source="https://orcid.org/0000-0001-5208-3432"} ! thyrotoxic periodic paralysis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39080 {source="MONDO:mim2gene_medgen"} ! KCNJ18
relationship: predisposes_towards MONDO:0019201 {source="OMIM:613239"} ! thyrotoxic periodic paralysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013194
name: Pseudopili annulati
synonym: "Pseudopili annulati" EXACT [OMIM:613241]
xref: MEDGEN:461813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613241 {source="MONDO:equivalentTo"}
xref: UMLS:C3150463 {source="MEDGEN:461813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013195
name: hypertrophic cardiomyopathy 13
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 13" EXACT [DOID:0110319]
synonym: "cardiomyopathy, familial hypertrophic, 13" RELATED [MONDO:Lexical, OMIM:613243]
synonym: "cardiomyopathy, familial hypertrophic, type 13" EXACT [MONDORULE:2, OMIM:613243]
synonym: "cardiomyopathy, hypertrophic, 13" EXACT [OMIM:613243, OMIM:genemap2]
synonym: "CMH13" EXACT ABBREVIATION [DOID:0110319, MONDO:Lexical, OMIM:613243]
synonym: "hypertrophic cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 13" EXACT [DOID:0110319, MONDORULE:2]
synonym: "TNNC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110319 {source="MONDO:equivalentTo"}
xref: MEDGEN:442487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567686 {source="MONDO:equivalentTo"}
xref: OMIM:613243 {source="MONDO:equivalentTo", source="DOID:0110319"}
xref: Orphanet:155 {source="OMIM:613243"}
xref: UMLS:C2750472 {source="MONDO:equivalentTo", source="MEDGEN:442487", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:613243", source="DOID:0110319", source="MESH:C567686/inferred", source="MONDO:Redundant", source="OMIM:613243"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C567686", source="MONDO:OMIM", source="OMIM:613243"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11943 ! TNNC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11943 {source="MONDO:mim2gene_medgen"} ! TNNC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013196
name: Lynch syndrome 8
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colorectal cancer, hereditary nonpolyposis, type 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613244]
synonym: "EPCAM hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in EPCAM" EXACT [MONDO:design_pattern]
synonym: "HNPCC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613244]
xref: DOID:0070270 {source="MONDO:equivalentTo"}
xref: GARD:15638 {source="MONDO:GARD"}
xref: MEDGEN:412966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567685 {source="MONDO:equivalentTo"}
xref: OMIM:613244 {source="MONDO:equivalentTo"}
xref: Orphanet:144 {source="OMIM:613244"}
xref: UMLS:C2750471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412966"}
is_a: MONDO:0018630 {source="MONDO:Redundant", source="OMIM:613244"} ! hereditary nonpolyposis colon cancer
intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11529 ! EPCAM
relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:613244", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11529 {source="MONDO:mim2gene_medgen"} ! EPCAM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI

[Term]
id: MONDO:0013197
name: hypertrophic cardiomyopathy 14
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 14" EXACT [DOID:0110320]
synonym: "cardiomyopathy, familial hypertrophic, 14" RELATED [MONDO:Lexical, OMIM:613251]
synonym: "cardiomyopathy, familial hypertrophic, type 14" EXACT [MONDORULE:2, OMIM:613251]
synonym: "cardiomyopathy, hypertrophic, 14" EXACT [OMIM:613251, OMIM:genemap2]
synonym: "CMH14" EXACT ABBREVIATION [DOID:0110320, MONDO:Lexical, OMIM:613251]
synonym: "hypertrophic cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 14" EXACT [DOID:0110320, MONDORULE:2]
synonym: "MYH6 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110320 {source="MONDO:equivalentTo"}
xref: MEDGEN:442484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567684 {source="MONDO:equivalentTo"}
xref: OMIM:613251 {source="MONDO:equivalentTo", source="DOID:0110320"}
xref: Orphanet:155 {source="OMIM:613251"}
xref: UMLS:C2750467 {source="MEDGEN:442484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:613251", source="DOID:0110320", source="MESH:C567684/inferred", source="MONDO:Redundant", source="OMIM:613251"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C567684", source="MONDO:OMIM", source="OMIM:613251"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 ! MYH6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013198
name: dilated cardiomyopathy 1EE
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1EE" RELATED [MONDO:Lexical, OMIM:613252]
synonym: "cardiomyopathy, dilated, type 1Ee" EXACT [MONDORULE:9, OMIM:613252]
synonym: "CMD1EE" EXACT ABBREVIATION [DOID:0110453, MONDO:Lexical, OMIM:613252]
synonym: "dilated cardiomyopathy type 1EE" EXACT [DOID:0110453, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern]
synonym: "MYH6 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110453 {source="MONDO:equivalentTo"}
xref: GARD:15639 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110453"}
xref: MEDGEN:412965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567683 {source="MONDO:equivalentTo"}
xref: OMIM:613252 {source="MONDO:equivalentTo", source="DOID:0110453"}
xref: Orphanet:154 {source="OMIM:613252"}
xref: UMLS:C2750466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412965"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613252"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6

[Term]
id: MONDO:0013199
name: tuberous sclerosis 2
def: "Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene)." [NCIT:C75331]
subset: gard_rare {source="GARD:15640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TSC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613254]
synonym: "TSC2 Angiomyolipomas, renal, modifier of" RELATED [OMIM:613254]
synonym: "tuberous sclerosis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613254]
synonym: "tuberous sclerosis type 2" EXACT [MONDORULE:1, OMIM:613254]
synonym: "tuberous sclerosis, type 2" RELATED [GARD:0005381]
synonym: "tuberous sclerosis-2" EXACT [OMIM:613254, OMIM:genemap2]
xref: DOID:0080325 {source="MONDO:equivalentTo"}
xref: GARD:15640 {source="MONDO:GARD"}
xref: MEDGEN:348170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566021 {source="MONDO:equivalentTo"}
xref: NCIT:C75331 {source="MONDO:equivalentTo"}
xref: OMIM:613254 {source="MONDO:equivalentTo"}
xref: Orphanet:805 {source="OMIM:613254"}
xref: UMLS:C1860707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348170"}
is_a: MONDO:0001734 {source="DC-OMIM:613254", source="NCIT:C75331", source="OMIM:613254"} ! tuberous sclerosis
relationship: excluded_subClassOf MONDO:0019341 {source="Orphanet:805/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete tuberous sclerosis complex
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613254"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013200
name: hypertrophic cardiomyopathy 15
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 15" EXACT [DOID:0110321]
synonym: "cardiomyopathy, familial hypertrophic, 15" RELATED [MONDO:Lexical, OMIM:613255]
synonym: "cardiomyopathy, familial hypertrophic, type 15" EXACT [MONDORULE:2, OMIM:613255]
synonym: "cardiomyopathy, hypertrophic, 15" EXACT [OMIM:613255, OMIM:genemap2]
synonym: "CMH15" EXACT ABBREVIATION [DOID:0110321, MONDO:Lexical, OMIM:613255]
synonym: "hypertrophic cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 15" EXACT [DOID:0110321, MONDORULE:2]
synonym: "VCL hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110321 {source="MONDO:equivalentTo"}
xref: MEDGEN:413312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567681 {source="MONDO:equivalentTo"}
xref: OMIM:613255 {source="MONDO:equivalentTo", source="DOID:0110321"}
xref: Orphanet:155 {source="OMIM:613255"}
xref: UMLS:C2750459 {source="MEDGEN:413312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:613255", source="DOID:0110321", source="MESH:C567681/inferred", source="MONDO:Redundant", source="OMIM:613255"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MESH:C567681", source="MONDO:OMIM", source="OMIM:613255"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12665 ! VCL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12665 {source="MONDO:mim2gene_medgen"} ! VCL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013201
name: Waardenburg syndrome type 4B
def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EDN3 Waardenburg syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Waardenburg syndrome caused by mutation in EDN3" EXACT [MONDO:design_pattern]
synonym: "Waardenburg syndrome type 4B" EXACT CLINGEN_LABEL []
synonym: "Waardenburg syndrome type IVB" EXACT [DOID:0110954]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT [DOID:0110954]
synonym: "Waardenburg syndrome, type 4B" RELATED [MONDO:Lexical, OMIM:613265]
synonym: "Waardenburg syndrome, type 4B, with Hirschsprung disease" RELATED [OMIM:613265]
synonym: "WS4B" EXACT ABBREVIATION [DOID:0110954, MONDO:Lexical, OMIM:613265]
xref: DOID:0110954 {source="MONDO:equivalentTo"}
xref: GARD:15641 {source="MONDO:GARD"}
xref: MEDGEN:412961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567680 {source="MONDO:equivalentTo"}
xref: OMIM:613265 {source="DOID:0110954", source="MONDO:equivalentTo"}
xref: Orphanet:897 {source="OMIM:613265"}
xref: UMLS:C2750457 {source="MEDGEN:412961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="DC-OMIM:613265", source="DOID:0110954", source="OMIM:613265"} ! Waardenburg syndrome
is_a: MONDO:0019518 {source="GARD:0005524/text"} ! Waardenburg-Shah syndrome
intersection_of: MONDO:0018094 ! Waardenburg syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3178 ! EDN3
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613265"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3178 {source="MONDO:mim2gene_medgen"} ! EDN3

[Term]
id: MONDO:0013202
name: Waardenburg syndrome type 4C
def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Waardenburg syndrome type 4C" EXACT CLINGEN_LABEL []
synonym: "Waardenburg syndrome type IVC" EXACT [DOID:0110955]
synonym: "Waardenburg syndrome with Hirschsprung disease type 4C" EXACT [DOID:0110955]
synonym: "Waardenburg syndrome with Hirschsprung disease, type 4C" RELATED [OMIM:613266]
synonym: "Waardenburg syndrome, type 4C" RELATED [MONDO:Lexical, OMIM:613266]
synonym: "WS4C" EXACT ABBREVIATION [DOID:0110955, MONDO:Lexical, OMIM:613266]
xref: DOID:0110955 {source="MONDO:equivalentTo"}
xref: GARD:15642 {source="MONDO:GARD"}
xref: MEDGEN:413310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567679 {source="MONDO:equivalentTo"}
xref: OMIM:613266 {source="DOID:0110955", source="MONDO:equivalentTo"}
xref: Orphanet:897 {source="OMIM:613266"}
xref: UMLS:C2750452 {source="MEDGEN:413310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="DC-OMIM:613266", source="DOID:0110955", source="OMIM:613266"} ! Waardenburg syndrome
is_a: MONDO:0019518 {source="GARD:0005524/text"} ! Waardenburg-Shah syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613266"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11190 {source="MONDO:mim2gene_medgen"} ! SOX10

[Term]
id: MONDO:0013203
name: corneal dystrophy, Fuchs endothelial, 3
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corneal dystrophy, Fuchs endothelial, 3" EXACT [MONDO:Lexical, OMIM:613267]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613267]
synonym: "corneal dystrophy, Fuchs endothelial, type 3" EXACT [MONDORULE:1, OMIM:613267]
synonym: "Fcd2 locus" RELATED [OMIM:613267]
synonym: "FECD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613267]
synonym: "Fuchs' endothelial dystrophy caused by mutation in TCF4" EXACT [MONDO:design_pattern]
synonym: "TCF4 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18218 {source="MONDO:GARD"}
xref: MEDGEN:442479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567678 {source="MONDO:equivalentTo"}
xref: OMIM:613267 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="OMIM:613267"}
xref: UMLS:C2750451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442479"}
is_a: MONDO:0005321 {source="DC-OMIM:613267", source="MONDO:Redundant", source="OMIM:613267"} ! Fuchs' endothelial dystrophy
intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11634 ! TCF4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11634 {source="MONDO:mim2gene_medgen"} ! TCF4

[Term]
id: MONDO:0013204
name: corneal dystrophy, Fuchs endothelial, 4
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corneal dystrophy, Fuchs endothelial, 4" EXACT [MONDO:Lexical, OMIM:613268]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613268]
synonym: "corneal dystrophy, Fuchs endothelial, type 4" EXACT [MONDORULE:1, OMIM:613268]
synonym: "FECD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613268]
synonym: "Fuchs' endothelial dystrophy caused by mutation in SLC4A11" EXACT [MONDO:design_pattern]
synonym: "SLC4A11 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18219 {source="MONDO:GARD"}
xref: MEDGEN:413309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567677 {source="MONDO:equivalentTo"}
xref: OMIM:613268 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="OMIM:613268"}
xref: UMLS:C2750450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413309"}
is_a: MONDO:0005321 {source="DC-OMIM:613268", source="MONDO:Redundant", source="OMIM:613268"} ! Fuchs' endothelial dystrophy
intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 ! SLC4A11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 {source="MONDO:mim2gene_medgen"} ! SLC4A11

[Term]
id: MONDO:0013205
name: corneal dystrophy, fuchs endothelial, 5
subset: gard_rare {source="GARD:18220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corneal dystrophy, Fuchs endothelial, 5" RELATED [MONDO:Lexical, OMIM:613269]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613269]
synonym: "Fcd3 locus" RELATED [OMIM:613269]
synonym: "FECD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613269]
xref: GARD:18220 {source="MONDO:GARD"}
xref: MEDGEN:413308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567676 {source="MONDO:equivalentTo"}
xref: OMIM:613269 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="OMIM:613269"}
xref: UMLS:C2750449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413308"}
is_a: MONDO:0005321 {source="DC-OMIM:613269", source="OMIM:613269"} ! Fuchs' endothelial dystrophy

[Term]
id: MONDO:0013206
name: corneal dystrophy, Fuchs endothelial, 6
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corneal dystrophy, Fuchs endothelial, 6" EXACT [MONDO:Lexical, OMIM:613270]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613270]
synonym: "corneal dystrophy, Fuchs endothelial, type 6" EXACT [MONDORULE:1, OMIM:613270]
synonym: "FECD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613270]
synonym: "Fuchs' endothelial dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern]
synonym: "ZEB1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18221 {source="MONDO:GARD"}
xref: MEDGEN:442478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567675 {source="MONDO:equivalentTo"}
xref: OMIM:613270 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="OMIM:613270"}
xref: UMLS:C2750448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442478"}
is_a: MONDO:0005321 {source="DC-OMIM:613270", source="MONDO:Redundant", source="OMIM:613270"} ! Fuchs' endothelial dystrophy
intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11642 ! ZEB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11642 {source="MONDO:mim2gene_medgen"} ! ZEB1

[Term]
id: MONDO:0013207
name: corneal dystrophy, fuchs endothelial, 7
subset: gard_rare {source="GARD:18222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corneal dystrophy, Fuchs endothelial, 7" RELATED [MONDO:Lexical, OMIM:613271]
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613271]
synonym: "Fcd4 locus" RELATED [OMIM:613271]
synonym: "FECD7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613271]
xref: GARD:18222 {source="MONDO:GARD"}
xref: MEDGEN:413849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567674 {source="MONDO:equivalentTo"}
xref: OMIM:613271 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="OMIM:613271"}
xref: UMLS:C2750447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413849"}
is_a: MONDO:0005321 {source="DC-OMIM:613271", source="OMIM:613271"} ! Fuchs' endothelial dystrophy

[Term]
id: MONDO:0013208
name: cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
subset: gard_rare {source="GARD:10706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:309854"}
subset: orphanet_rare {source="Orphanet:309854"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" EXACT CLINGEN_LABEL []
synonym: "HMDPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613280]
synonym: "HMNDYT1" RELATED ABBREVIATION [OMIM:613280]
synonym: "hypermanganesemia with dystonia 1" RELATED [OMIM:613280]
synonym: "hypermanganesemia with dystonia polycythemia and cirrhosis" RELATED [GARD:0010706]
synonym: "hypermanganesemia with dystonia, polycythemia, and cirrhosis" RELATED [MONDO:Lexical, OMIM:613280]
xref: DOID:0080536 {source="MONDO:equivalentTo"}
xref: GARD:10706 {source="MONDO:GARD"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:412958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548016 {source="MONDO:equivalentTo"}
xref: OMIM:613280 {source="Orphanet:309854/e", source="MONDO:equivalentTo", source="Orphanet:309854"}
xref: Orphanet:309854 {source="MONDO:equivalentTo", source="OMIM:613280"}
xref: SCTID:702377007 {source="MONDO:equivalentTo"}
xref: UMLS:C2750442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412958"}
is_a: MONDO:0000214 {source="DC-OMIM:613280", source="OMIM:613280"} ! hypermanganesemia with dystonia
is_a: MONDO:0005066 {source="Orphanet:309854"} ! metabolic disease
is_a: MONDO:0017766 {source="Orphanet:309854"} ! disorder of manganese transport
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25355 {source="MONDO:mim2gene_medgen"} ! SLC30A10

[Term]
id: MONDO:0013209
name: metabolic dysfunction-associated steatotic liver disease
def: "Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver." [https://www.verywellhealth.com/how-dangerous-is-non-alcoholic-fatty-liver-disease-2223390]
subset: otar {source="MONDO:OTAR"}
subset: predisposition
synonym: "fatty liver disease, nonalcoholic" EXACT [MONDO:0000031]
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:613282]
synonym: "liver disease, alcoholic, susceptibility to, 1" RELATED [OMIM:613282]
synonym: "MASLD" EXACT ABBREVIATION [https://www.verywellhealth.com/how-dangerous-is-non-alcoholic-fatty-liver-disease-2223390]
synonym: "NAFLD" EXACT ABBREVIATION [Orphanet:33271]
synonym: "NAFLD - nonalcoholic fatty liver disease" EXACT [NCIT:C84444]
synonym: "NAFLD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613282]
synonym: "non-alcoholic fatty liver" EXACT [MONDO:0007026]
synonym: "non-alcoholic fatty liver disease" EXACT [DOID:0080208]
synonym: "nonalcoholic fatty liver disease" EXACT [NCIT:C84444]
xref: DOID:0080208 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0080546 {source="MONDO:equivalentTo"}
xref: EFO:0003095 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10029530 {source="EFO:1001248"}
xref: MEDGEN:96033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065626 {source="MONDO:equivalentTo", source="EFO:0003095"}
xref: NCIT:C84444 {source="MONDO:equivalentTo", source="EFO:0003095"}
xref: Orphanet:33271 {source="MONDO:equivalentObsolete", source="OMIM:613282"}
xref: SCTID:197315008 {source="MONDO:equivalentTo", source="EFO:1001248"}
xref: UMLS:C0400966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96033"}
is_a: MONDO:0004790 {source="DOID:0080208", source="MESH:D065626"} ! fatty liver disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6718" xsd:anyURI

[Term]
id: MONDO:0013210
name: autosomal recessive nonsyndromic hearing loss 25
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 25" NARROW [DOID:0110483]
synonym: "autosomal recessive nonsyndromic deafness 25" NARROW [OMIM:613285]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 25" NARROW [DOID:0110483, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 25" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 25" NARROW [MONDO:Lexical, OMIM:613285, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 25" NARROW [MONDORULE:2, OMIM:613285]
synonym: "DFNB25" NARROW ABBREVIATION [DOID:0110483, MONDO:Lexical, OMIM:613285]
synonym: "GRXCR1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110483 {source="MONDO:equivalentTo"}
xref: GARD:22632 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110483"}
xref: MEDGEN:237587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613285 {source="MONDO:equivalentTo", source="DOID:0110483"}
xref: Orphanet:90636 {source="OMIM:613285"}
xref: UMLS:C1414017 {source="MEDGEN:237587", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:613285", source="DOID:0110483", source="MONDO:Redundant", source="OMIM:613285"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31673 ! GRXCR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31673 {source="MONDO:mim2gene_medgen"} ! GRXCR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013211
name: dilated cardiomyopathy 1FF
def: "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42." [DOID:0110459, PMID:19590045]
subset: gard_rare {source="GARD:15643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1FF" RELATED [MONDO:Lexical, OMIM:613286]
synonym: "cardiomyopathy, dilated, type 1Ff" EXACT [MONDORULE:9, OMIM:613286]
synonym: "CMD1FF" EXACT ABBREVIATION [DOID:0110459, MONDO:Lexical, OMIM:613286]
synonym: "dilated cardiomyopathy type 1FF" EXACT [DOID:0110459, MONDORULE:9]
xref: DOID:0110459 {source="MONDO:equivalentTo"}
xref: GARD:15643 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110459"}
xref: MEDGEN:412876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567654 {source="MONDO:equivalentTo"}
xref: OMIM:613286 {source="DOID:0110459", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:613286"}
xref: UMLS:C2750091 {source="MEDGEN:412876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613286"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3

[Term]
id: MONDO:0013212
name: Charcot-Marie-Tooth disease axonal type 2N
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." [Orphanet:228174]
subset: gard_rare {source="GARD:12429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228174"}
subset: orphanet_rare {source="Orphanet:228174"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in AARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2N" RELATED [GARD:0012429]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N" RELATED [OMIM:613287]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2N" RELATED [MONDO:Lexical, OMIM:613287]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2N" EXACT [DOID:0110177]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2N" RELATED [OMIM:613287]
synonym: "CMT2N" EXACT ABBREVIATION [DOID:0110177, MONDO:Lexical, OMIM:613287, Orphanet:228174]
xref: DOID:0110177 {source="MONDO:equivalentTo"}
xref: GARD:12429 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:228174", source="Orphanet:228174/attributed", source="Orphanet:228174/ntbt", source="DOID:0110177"}
xref: MEDGEN:413754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567653 {source="MONDO:equivalentTo"}
xref: OMIM:613287 {source="MONDO:equivalentTo", source="Orphanet:228174", source="DOID:0110177", source="Orphanet:228174/e"}
xref: Orphanet:228174 {source="OMIM:613287", source="MONDO:equivalentTo", source="DOID:0110177"}
xref: SCTID:719515001 {source="MONDO:equivalentTo"}
xref: UMLS:C2750090 {source="MEDGEN:413754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110177/inferred", source="MESH:C567653", source="MONDO:Redundant", source="OMIM:613287", source="Orphanet:228174/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110177", source="MONDO:Redundant", source="Orphanet:228174"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20 ! AARS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20 {source="MONDO:mim2gene_medgen"} ! AARS1

[Term]
id: MONDO:0013213
name: hearing loss, cisplatin-induced, susceptibility to
synonym: "CIHL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613290]
synonym: "hearing loss, cisplatin-induced, susceptibility to" EXACT [MONDO:Lexical, OMIM:613290]
xref: MEDGEN:413752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613290 {source="MONDO:equivalentTo"}
xref: Orphanet:240863 {source="OMIM:613290"}
xref: UMLS:C2750088 {source="MEDGEN:413752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613290"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:613290", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013214
name: bile acid malabsorption, primary, 1
synonym: "bile acid malabsorption, primary" EXACT [MONDO:Lexical, OMIM:613291]
synonym: "Bile acid malabsorption, primary, 1" EXACT [OMIM:613291, OMIM:genemap2]
synonym: "PBAM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613291]
xref: MEDGEN:1794144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567652 {source="MONDO:equivalentTo"}
xref: OMIM:613291 {source="MONDO:equivalentTo"}
xref: Orphanet:449262 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5561934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794144"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10906 {source="MONDO:mim2gene_medgen"} ! SLC10A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013215
name: autosomal recessive nonsyndromic hearing loss 79
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22633", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 79" NARROW [DOID:0110526]
synonym: "autosomal recessive nonsyndromic deafness 79" NARROW [OMIM:613307]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TPRN" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 79" NARROW [DOID:0110526, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 79" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 79" NARROW [MONDO:Lexical, OMIM:613307, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 79" NARROW [MONDORULE:2, OMIM:613307]
synonym: "DFNB79" NARROW ABBREVIATION [DOID:0110526, MONDO:Lexical, OMIM:613307]
synonym: "TPRN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110526 {source="MONDO:equivalentTo"}
xref: GARD:22633 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110526"}
xref: MEDGEN:413222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567651 {source="MONDO:equivalentTo"}
xref: OMIM:613307 {source="DOID:0110526", source="MONDO:equivalentTo"}
xref: UMLS:C2750082 {source="MEDGEN:413222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:613307", source="DOID:0110526", source="MONDO:Redundant", source="OMIM:613307"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26894 ! TPRN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26894 {source="MONDO:mim2gene_medgen"} ! TPRN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013216
name: Diamond-Blackfan anemia 9
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613308]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPS10" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 9" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 9" EXACT [MONDO:Lexical, OMIM:613308]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS10" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 9" EXACT [MONDORULE:1, OMIM:613308]
synonym: "RPS10 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPS10 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111884 {source="MONDO:equivalentTo"}
xref: GARD:15644 {source="MONDO:GARD"}
xref: MEDGEN:412874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567650 {source="MONDO:equivalentTo"}
xref: NCIT:C176918 {source="MONDO:equivalentTo"}
xref: OMIM:613308 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:613308"}
xref: UMLS:C2750081 {source="MEDGEN:412874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="DC-OMIM:613308", source="MESH:C567650", source="MONDO:Redundant", source="OMIM:613308"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10383 ! RPS10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10383 {source="MONDO:mim2gene_medgen"} ! RPS10

[Term]
id: MONDO:0013217
name: Diamond-Blackfan anemia 10
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613309]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPS26" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 10" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 10" EXACT [MONDO:Lexical, OMIM:613309]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS26" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 10" EXACT [MONDORULE:2, OMIM:613309]
synonym: "RPS26 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPS26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111888 {source="MONDO:equivalentTo"}
xref: GARD:15645 {source="MONDO:GARD"}
xref: MEDGEN:412873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567649 {source="MONDO:equivalentTo"}
xref: NCIT:C176919 {source="MONDO:equivalentTo"}
xref: OMIM:613309 {source="MONDO:equivalentTo"}
xref: UMLS:C2750080 {source="MEDGEN:412873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="DC-OMIM:613309", source="MESH:C567649", source="MONDO:Redundant", source="OMIM:613309"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10414 ! RPS26
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10414 {source="MONDO:mim2gene_medgen"} ! RPS26

[Term]
id: MONDO:0013218
name: exudative vitreoretinopathy 5
def: "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15646", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EVR5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613310]
synonym: "exudative vitreoretinopathy 5" EXACT [MONDO:Lexical, OMIM:613310]
synonym: "exudative vitreoretinopathy caused by mutation in TSPAN12" EXACT [MONDO:design_pattern]
synonym: "exudative vitreoretinopathy type 5" EXACT [MONDORULE:1, OMIM:613310]
synonym: "TSPAN12 exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111408 {source="MONDO:equivalentTo"}
xref: GARD:15646 {source="MONDO:GARD"}
xref: MEDGEN:412872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567648 {source="MONDO:equivalentTo"}
xref: OMIM:613310 {source="MONDO:equivalentTo"}
xref: Orphanet:891 {source="OMIM:613310"}
xref: UMLS:C2750079 {source="MEDGEN:412872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019516 {source="DC-OMIM:613310", source="MONDO:Redundant", source="OMIM:613310"} ! exudative vitreoretinopathy
is_a: MONDO:0100484 {source="https://clinicalgenome.org/affiliation/40072/"} ! TSPAN12-related vitreoretinopathy
is_a: MONDO:0700231 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! TSPAN12-related exudative vitreoretinopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21641 {source="MONDO:mim2gene_medgen"} ! TSPAN12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0013219
name: hypophosphatemic rickets, autosomal recessive, 2
def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2000"}
subset: rare
synonym: "ARHR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613312]
synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1" EXACT [MONDO:design_pattern]
synonym: "Autosomal Recessive Hypophosphatemic Rickets Type 2" EXACT [NORD:2000]
synonym: "ENPP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypophosphatemic rickets, autosomal recessive, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613312]
synonym: "hypophosphatemic rickets, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:613312]
xref: GARD:18417 {source="MONDO:GARD"}
xref: MEDGEN:442380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567647 {source="MONDO:equivalentTo"}
xref: NORD:2000 {source="MONDO:NORD"}
xref: OMIM:613312 {source="MONDO:equivalentTo"}
xref: Orphanet:289176 {source="OMIM:613312"}
xref: UMLS:C2750078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442380"}
is_a: MONDO:0000044 {source="MONDO:0013219/inferred", source="MONDO:Redundant", source="OMIM:613312"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0017324 {source="MONDO:Redundant", source="Orphanet:289176/btnt"} ! autosomal recessive hypophosphatemic rickets
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0017324 ! autosomal recessive hypophosphatemic rickets
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 ! ENPP1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613312"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 {source="MONDO:mim2gene_medgen"} ! ENPP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013220
name: hemochromatosis type 2B
def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HAMP hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hemochromatosis type 2 caused by mutation in HAMP" EXACT [MONDO:design_pattern]
synonym: "hemochromatosis, type 2B" RELATED [MONDO:Lexical, OMIM:613313]
synonym: "HFE2B" EXACT ABBREVIATION [DOID:0111032, MONDO:Lexical, OMIM:613313]
xref: DOID:0111032 {source="MONDO:equivalentTo"}
xref: GARD:15647 {source="MONDO:GARD"}
xref: MEDGEN:356040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566557 {source="MONDO:equivalentTo"}
xref: OMIM:613313 {source="MONDO:equivalentTo", source="DOID:0111032"}
xref: Orphanet:79230 {source="OMIM:613313"}
xref: UMLS:C1865616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356040"}
is_a: MONDO:0006507 {source="DOID:0111032/inferred", source="MESH:C566557", source="MONDO:Redundant", source="OMIM:613313"} ! hereditary hemochromatosis
is_a: MONDO:0019257 {source="DOID:0111032", source="MONDO:Redundant"} ! hemochromatosis type 2
intersection_of: MONDO:0019257 ! hemochromatosis type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15598 ! HAMP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15598 {source="MONDO:mim2gene_medgen"} ! HAMP

[Term]
id: MONDO:0013221
name: Miyoshi muscular dystrophy 2
subset: gard_rare {source="GARD:15648", source="MONDO:GARD"}
subset: rare
synonym: "MIYOSHI muscular dystrophy 2" RELATED [OMIM:613318]
synonym: "Miyoshi muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:613318]
synonym: "Miyoshi myopathy 2" RELATED [OMIM:613318]
synonym: "MMD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613318]
xref: DOID:0070200 {source="MONDO:equivalentTo"}
xref: GARD:15648 {source="MONDO:GARD"}
xref: MEDGEN:413751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567646 {source="MONDO:equivalentTo"}
xref: OMIM:613318 {source="MONDO:equivalentTo"}
xref: Orphanet:45448 {source="OMIM:613318"}
xref: UMLS:C2750077 {source="MEDGEN:413751", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009685 {source="Orphanet:45448/btnt"} ! Miyoshi myopathy
is_a: MONDO:0018949 {source="MONDO:Redundant", source="OMIM:613318"} ! distal myopathy

[Term]
id: MONDO:0013222
name: Miyoshi muscular dystrophy 3
subset: gard_rare {source="GARD:17653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399096"}
subset: orphanet_rare {source="Orphanet:399096"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal anoctaminopathy" EXACT [Orphanet:399096]
synonym: "Miyoshi muscular dystrophy 3" EXACT [MONDO:Lexical, OMIM:613319]
synonym: "Miyoshi muscular dystrophy type 3" EXACT [MONDORULE:1, OMIM:613319, Orphanet:399096]
synonym: "Miyoshi myopathy 3" RELATED [OMIM:613319]
synonym: "MMD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613319, Orphanet:399096]
xref: DOID:0070201 {source="MONDO:equivalentTo"}
xref: GARD:17653 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:399096/attributed", source="Orphanet:399096/ntbt", source="Orphanet:399096"}
xref: MEDGEN:413750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567645 {source="MONDO:equivalentTo"}
xref: OMIM:613319 {source="Orphanet:399096/e", source="MONDO:equivalentTo", source="Orphanet:399096"}
xref: Orphanet:399096 {source="MONDO:equivalentTo", source="OMIM:613319"}
xref: UMLS:C2750076 {source="MEDGEN:413750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009685 {source="OMIM:613319"} ! Miyoshi myopathy
is_a: MONDO:0018949 {source="DC-OMIM:613319", source="MONDO:Redundant", source="OMIM:613319", source="Orphanet:399096/inferred"} ! distal myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 {source="MONDO:mim2gene_medgen"} ! ANO5

[Term]
id: MONDO:0013223
name: autosomal recessive spondylometaphyseal dysplasia, Megarbane type
def: "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401979"}
subset: ordo_malformation_syndrome {source="Orphanet:401979"}
subset: orphanet_rare {source="Orphanet:401979"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" RELATED [Orphanet:401979]
synonym: "chondrodysplasia, Megarbane-Dagher-Melki type" RELATED [OMIM:613320]
synonym: "PAM16 spondylodysplastic dysplasia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "SMDMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613320]
synonym: "spondylodysplastic dysplasia caused by mutation in PAM16" EXACT []
synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" EXACT [OMIM:613320, OMIM:genemap2]
synonym: "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type" RELATED [MONDO:Lexical, OMIM:613320]
xref: DOID:0112304 {source="MONDO:equivalentTo"}
xref: GARD:17667 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:401979", source="Orphanet:401979/attributed", source="Orphanet:401979/ntbt"}
xref: MEDGEN:413221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567644 {source="MONDO:equivalentTo"}
xref: OMIM:613320 {source="MONDO:equivalentTo", source="Orphanet:401979", source="Orphanet:401979/e"}
xref: Orphanet:401979 {source="OMIM:613320", source="MONDO:equivalentTo"}
xref: UMLS:C2750075 {source="MEDGEN:413221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="OMIM:613320"} ! spondylometaphyseal dysplasia
is_a: MONDO:0019694 {source="Orphanet:401979"} ! spondylodysplastic dysplasia
is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia
intersection_of: MONDO:0019694 ! spondylodysplastic dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29679 ! PAM16
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29679 {source="MONDO:mim2gene_medgen"} ! PAM16
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013224
name: rhabdoid tumor predisposition syndrome 2
def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial rhabdoid tumor caused by mutation in SMARCA4" EXACT [MONDO:design_pattern]
synonym: "familial rhabdoid tumour caused by mutation in SMARCA4" EXACT OMO:0003005 []
synonym: "rhabdoid tumor predisposition syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613325]
synonym: "rhabdoid tumor predisposition syndrome type 2" EXACT [MONDORULE:1, OMIM:613325]
synonym: "rhabdoid tumour predisposition syndrome type 2" EXACT OMO:0003005 []
synonym: "RTPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613325]
synonym: "SMARCA4 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SMARCA4 familial rhabdoid tumour" EXACT OMO:0003005 []
xref: GARD:18319 {source="MONDO:GARD"}
xref: MEDGEN:413749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567643 {source="MONDO:equivalentTo"}
xref: NCIT:C178394 {source="MONDO:equivalentTo"}
xref: OMIM:613325 {source="MONDO:equivalentTo"}
xref: Orphanet:231108 {source="OMIM:613325"}
xref: Orphanet:69077 {source="OMIM:613325"}
xref: UMLS:C2750074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413749"}
is_a: MONDO:0016473 {source="MONDO:Redundant", source="OMIM:613325", source="Orphanet:231108/btnt"} ! familial rhabdoid tumor
is_a: MONDO:0020560 {source="DC-OMIM:613325"} ! atypical teratoid rhabdoid tumor
intersection_of: MONDO:0016473 ! familial rhabdoid tumor
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 ! SMARCA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 {source="MONDO:mim2gene_medgen"} ! SMARCA4

[Term]
id: MONDO:0013225
name: congenital generalized lipodystrophy type 4
def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10937", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy" EXACT [DOID:0111138]
synonym: "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy" RELATED [OMIM:613327]
synonym: "Brunzell syndrome AGPAT2-related" RELATED EXCLUDE [DOID:0111138]
synonym: "BSCL4" EXACT ABBREVIATION [DOID:0111138]
synonym: "CAVIN1 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 []
synonym: "CAVIN1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CGL4" EXACT ABBREVIATION [DOID:0111138, MONDO:Lexical, OMIM:613327]
synonym: "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1" EXACT OMO:0003005 []
synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1" EXACT []
synonym: "GCL4" EXACT ABBREVIATION [DOID:0111138, Orphanet:228429]
synonym: "generalised congenital lipodystrophy type 4" EXACT OMO:0003005 []
synonym: "generalised congenital lipodystrophy with myopathy" EXACT OMO:0003005 []
synonym: "generalized congenital lipodystrophy type 4" EXACT [DOID:0111138, Orphanet:228429]
synonym: "generalized congenital lipodystrophy with myopathy" EXACT [DOID:0111138]
synonym: "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy" RELATED [OMIM:613327]
synonym: "lipodystrophy, congenital generalized, type 4" RELATED [MONDO:Lexical, OMIM:613327]
xref: DOID:0111138 {source="MONDO:equivalentTo"}
xref: GARD:10937 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="DOID:0111138", source="Orphanet:228429/attributed", source="Orphanet:228429/ntbt", source="Orphanet:228429"}
xref: MEDGEN:412871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567642 {source="MONDO:equivalentTo"}
xref: OMIM:613327 {source="DOID:0111138", source="Orphanet:228429", source="MONDO:equivalentTo", source="Orphanet:228429/e"}
xref: Orphanet:228429 {source="DOID:0111138", source="MONDO:equivalentObsolete", source="OMIM:613327"}
xref: UMLS:C2750069 {source="MEDGEN:412871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006536 {source="DC-OMIM:613327", source="DOID:0111138", source="MONDO:Redundant", source="OMIM:613327"} ! congenital generalized lipodystrophy
is_a: MONDO:0020087 {source="MONDO:Entailed", source="Orphanet:228429"} ! hereditary lipodystrophy
intersection_of: MONDO:0006536 ! congenital generalized lipodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9688 ! CAVIN1
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9688 {source="MONDO:mim2gene_medgen"} ! CAVIN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0013226
name: combined immunodeficiency with faciooculoskeletal anomalies
def: "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." [Orphanet:221139]
subset: gard_rare {source="GARD:17139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221139"}
subset: orphanet_rare {source="Orphanet:221139"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" RELATED [OMIM:613328]
synonym: "ROIFMAN-Chitayat syndrome" RELATED [OMIM:613328]
synonym: "Roifman-Chitayat syndrome" EXACT [Orphanet:221139]
synonym: "Roifman-Chitayat syndrome, digenic" EXACT [OMIM:613328, OMIM:genemap2]
xref: GARD:17139 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:221139", source="Orphanet:221139/attributed", source="Orphanet:221139/ntbt"}
xref: MEDGEN:442377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567641 {source="MONDO:equivalentTo"}
xref: OMIM:613328 {source="MONDO:equivalentTo", source="Orphanet:221139", source="Orphanet:221139/e"}
xref: Orphanet:221139 {source="MONDO:equivalentTo", source="OMIM:613328"}
xref: UMLS:C2750068 {source="MONDO:equivalentTo", source="MEDGEN:442377", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0002-5002-8648"} ! inborn error of immunity
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-7941-2961"} ! combined immunodeficiency
is_a: MONDO:0015160 {source="Orphanet:221139"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:221139", source="Orphanet:221139/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013227
name: congenital plasminogen activator inhibitor type 1 deficiency
def: "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." [Orphanet:465]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:465"}
subset: orphanet_rare {source="Orphanet:465"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital PAI-1 deficiency" EXACT [Orphanet:465]
synonym: "congenital plasminogen activator inhibitor type 1 deficiency" EXACT CLINGEN_LABEL []
synonym: "hyperfibrinolysis due to Pai1 deficiency" RELATED [OMIM:613329]
synonym: "plasminogen activator inhibitor type 1 deficiency" RELATED [GARD:0004381]
synonym: "plasminogen activator INHIBITOR-1 deficiency" RELATED [OMIM:613329]
xref: GARD:4381 {source="MONDO:GARD"}
xref: ICD10CM:D68.8 {source="Orphanet:465/attributed", source="Orphanet:465/ntbt", source="Orphanet:465"}
xref: icd11.foundation:428643962 {source="MONDO:equivalentTo", source="Orphanet:465"}
xref: MEDGEN:412870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567640 {source="MONDO:equivalentTo"}
xref: NANDO:2200688 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C133884 {source="MONDO:equivalentTo"}
xref: OMIM:613329 {source="Orphanet:465/e", source="MONDO:equivalentTo", source="Orphanet:465"}
xref: Orphanet:465 {source="MONDO:equivalentTo", source="OMIM:613329"}
xref: SCTID:717407006 {source="MONDO:equivalentTo"}
xref: UMLS:C2750067 {source="MEDGEN:412870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C133884"} ! blood coagulation disease
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8583 {source="MONDO:mim2gene_medgen"} ! SERPINE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013228
name: spondylo-megaepiphyseal-metaphyseal dysplasia
subset: gard_rare {source="GARD:17154", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228387"}
subset: orphanet_rare {source="Orphanet:228387"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613330]
synonym: "spondylo-megaepiphyseal-metaphyseal dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613330]
xref: GARD:17154 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:228387/attributed", source="Orphanet:228387/ntbt", source="Orphanet:228387"}
xref: MEDGEN:412869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567639 {source="MONDO:equivalentTo"}
xref: OMIM:613330 {source="Orphanet:228387/e", source="MONDO:equivalentTo", source="Orphanet:228387"}
xref: Orphanet:228387 {source="MONDO:equivalentTo", source="OMIM:613330"}
xref: UMLS:C2750066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412869"}
is_a: MONDO:0016761 {source="Orphanet:228387"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/951 {source="MONDO:mim2gene_medgen"} ! NKX3-2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013229
name: hot water reflex epilepsy
def: "Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases." [Orphanet:166412]
comment: Editor note: TODO add ECTO
subset: gard_rare {source="GARD:17028", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:166412"}
subset: orphanet_rare {source="Orphanet:166412"}
subset: rare
synonym: "bathing epilepsy" RELATED [OMIM:613339]
synonym: "epilepsy, hot water" EXACT [MONDO:0000028]
synonym: "hot water epilepsy" EXACT [OMIMPS:613339]
synonym: "water immersion epilepsy" RELATED [OMIM:613339]
xref: DOID:0081104 {source="MONDO:equivalentTo"}
xref: GARD:17028 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166412", source="Orphanet:166412/ntbt"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1631373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:613339 {source="MONDO:equivalentTo"}
xref: Orphanet:166412 {source="MONDO:equivalentTo", source="OMIM:613339"}
xref: SCTID:230454005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706506 {source="MEDGEN:1631373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017768 {source="Orphanet:166412"} ! reflex epilepsy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613339"} ! inherited

[Term]
id: MONDO:0013230
name: epilepsy, hot water, 2
subset: gard_rare {source="GARD:18287", source="MONDO:GARD"}
subset: rare
synonym: "epilepsy, hot water, 2" EXACT [MONDO:Lexical, OMIM:613340]
synonym: "HWE2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613340]
xref: DOID:0081107 {source="MONDO:equivalentTo"}
xref: GARD:18287 {source="MONDO:GARD"}
xref: MEDGEN:461886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613340 {source="MONDO:equivalentTo"}
xref: Orphanet:166412 {source="OMIM:613340"}
xref: UMLS:C3150536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461886"}
is_a: MONDO:0013229 {source="OMIM:613340", source="Orphanet:166412/btnt"} ! hot water reflex epilepsy

[Term]
id: MONDO:0013231
name: Leber congenital amaurosis 14
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10883", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LCA14" EXACT ABBREVIATION [DOID:0110188, MONDO:Lexical, OMIM:613341]
synonym: "Leber congenital amaurosis 14" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613341]
synonym: "Leber congenital amaurosis caused by mutation in LRAT" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 14" EXACT [DOID:0110188, MONDORULE:2, OMIM:613341]
synonym: "LRAT Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal dystrophy, early-onset severe" EXACT [OMIM:613341, OMIM:genemap2]
synonym: "retinal dystrophy, early-onset Severe, LRAT-related" RELATED [OMIM:613341]
synonym: "retinitis pigmentosa, juvenile" RELATED [OMIM:613341, OMIM:genemap2]
synonym: "retinitis pigmentosa, juvenile, LRAT-related" RELATED [OMIM:613341]
xref: DOID:0110188 {source="MONDO:equivalentTo"}
xref: GARD:10883 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110188"}
xref: MEDGEN:442375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567636 {source="MONDO:equivalentTo"}
xref: OMIM:613341 {source="MONDO:equivalentTo", source="DOID:0110188"}
xref: Orphanet:65 {source="OMIM:613341"}
xref: Orphanet:791 {source="MONDO:relatedTo", source="OMIM:613341"}
xref: UMLS:C2750063 {source="MEDGEN:442375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:613341", source="DOID:0110188", source="MESH:C567636", source="MONDO:Redundant", source="OMIM:613341"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6685 ! LRAT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6685 {source="MONDO:mim2gene_medgen"} ! LRAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10883/leber-congenital-amaurosis-14" xsd:anyURI {source="GARD:0010883"}

[Term]
id: MONDO:0013232
name: brachydactylous dwarfism, Mseleni type
def: "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." [Orphanet:2619]
subset: gard_rare {source="GARD:960", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2619"}
subset: orphanet_rare {source="Orphanet:2619"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactylous dwarfism Mseleni type" RELATED [GARD:0000960]
synonym: "brachydactylous dwarfs of Mseleni" RELATED [GARD:0000960]
synonym: "Mseleni JOINT disease" RELATED [OMIM:613342]
synonym: "Mseleni joint disease" EXACT [Orphanet:2619]
xref: GARD:960 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:2619/attributed", source="Orphanet:2619/ntbt", source="Orphanet:2619"}
xref: MEDGEN:419408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537086 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"}
xref: OMIM:613342 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"}
xref: Orphanet:2619 {source="OMIM:613342", source="MONDO:equivalentTo"}
xref: SCTID:715470008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931420 {source="MEDGEN:419408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="Orphanet:2619"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0013233
name: spondyloepimetaphyseal dysplasia, Handigodu type
def: "A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging." [https://orcid.org/0000-0001-5208-3432, Orphanet:99642]
subset: gard_rare {source="GARD:10741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99642"}
subset: orphanet_rare {source="Orphanet:99642"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Handigodu JOINT disease" RELATED [OMIM:613343]
synonym: "Hjd" RELATED [OMIM:613343]
synonym: "spondyloepimetaphyseal dysplasia, Handigodu type" EXACT [OMIM:613343]
xref: GARD:10741 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:99642", source="Orphanet:99642/attributed", source="Orphanet:99642/ntbt"}
xref: MEDGEN:461895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613343 {source="Orphanet:99642", source="MONDO:equivalentTo", source="Orphanet:99642/e"}
xref: Orphanet:99642 {source="OMIM:613343", source="MONDO:equivalentTo"}
xref: UMLS:C3150545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461895"}
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:99642", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0013234
name: hypokalemic periodic paralysis, type 2
subset: gard_rare {source="GARD:15649", source="MONDO:GARD"}
subset: rare
synonym: "HOKPP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613345]
synonym: "hypokalemic periodic paralysis, type 2" EXACT [MONDO:Lexical, OMIM:613345]
xref: GARD:15649 {source="MONDO:GARD"}
xref: MEDGEN:413748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567635 {source="MONDO:equivalentTo"}
xref: OMIM:613345 {source="MONDO:equivalentTo"}
xref: Orphanet:681 {source="OMIM:613345"}
xref: UMLS:C2750061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413748"}
is_a: MONDO:0008223 {source="MESH:C567635", source="Orphanet:681/btnt"} ! hypokalemic periodic paralysis
is_a: MONDO:0800468 {source="PMID:32849172", source="https://clinicalgenome.org/affiliation/40060/"} ! SCN4A-related channelopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="MONDO:mim2gene_medgen"} ! SCN4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0013235
name: pancreatic cancer, susceptibility to, 2
def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "BRCA2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial pancreatic carcinoma caused by mutation in BRCA2" EXACT [MONDO:design_pattern]
synonym: "pancreatic cancer 2" EXACT [OMIM:613347, OMIM:genemap2]
synonym: "pancreatic cancer, susceptibility to, 2" EXACT [OMIM:613347]
synonym: "pancreatic cancer, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613347]
synonym: "Pnca2" RELATED [OMIM:613347]
synonym: "susceptibility to pancreatic cancer 2" RELATED [OMIM:613347]
xref: MEDGEN:461896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613347 {source="MONDO:equivalentTo"}
xref: Orphanet:1333 {source="OMIM:613347"}
xref: UMLS:C3150546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461896"}
is_a: MONDO:0020573 {source="OMIM:613347"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial pancreatic carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen", source="OMIM:613347"} ! BRCA2
relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013236
name: pancreatic cancer, susceptibility to, 3
def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "familial pancreatic carcinoma caused by mutation in PALB2" EXACT [MONDO:design_pattern]
synonym: "PALB2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pancreatic cancer, susceptibility to, 3" EXACT [OMIM:613348]
synonym: "pancreatic cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613348]
synonym: "Pnca3" RELATED [OMIM:613348]
synonym: "susceptibility to pancreatic cancer 3" RELATED [OMIM:613348]
xref: MEDGEN:461897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613348 {source="MONDO:equivalentTo"}
xref: Orphanet:1333 {source="OMIM:613348"}
xref: UMLS:C3150547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461897"}
is_a: MONDO:0020573 {source="OMIM:613348"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial pancreatic carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26144 {source="MONDO:mim2gene_medgen", source="OMIM:613348"} ! PALB2
relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm

[Term]
id: MONDO:0013237
name: susceptibility to mononeuropathy of the median nerve, mild
synonym: "carpal tunnel syndrome, susceptibility to" RELATED [OMIM:613353]
synonym: "MNMN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613353]
synonym: "mononeuropathy of the median nerve, mild" EXACT [MONDO:Lexical, OMIM:613353]
xref: MEDGEN:461946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613353 {source="MONDO:equivalentTo"}
xref: UMLS:C3150596 {source="MEDGEN:461946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613353"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0007275 {source="https://orcid.org/0000-0001-5208-3432"} ! carpal tunnel syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29427 {source="MONDO:mim2gene_medgen"} ! SH3TC2

[Term]
id: MONDO:0013238
name: chromosome 17q23.1-q23.2 deletion syndrome
def: "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." [Orphanet:261279]
subset: gard_rare {source="GARD:10936", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261279"}
subset: ordo_malformation_syndrome {source="Orphanet:261279"}
subset: orphanet_rare {source="Orphanet:261279"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [DOID:0060405, Orphanet:261279]
synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [DOID:0060405]
synonym: "chromosome 17q23.1-q23.2 deletion syndrome" EXACT [OMIM:613355]
synonym: "chromosome 17q23.1-q23.2 deletion syndrome, isolated cases" EXACT [OMIM:613355, OMIM:genemap2]
synonym: "Del(17)(q23.1q23.2)" EXACT [Orphanet:261279]
synonym: "monosomy 17q23.1-q23.2" EXACT [Orphanet:261279]
synonym: "monosomy 17q23.1q23.2" EXACT [Orphanet:261279]
xref: DOID:0060405 {source="MONDO:equivalentTo"}
xref: GARD:10936 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261279", source="DOID:0060405", source="Orphanet:261279/attributed", source="Orphanet:261279/ntbt"}
xref: MEDGEN:461957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613355 {source="MONDO:equivalentTo", source="Orphanet:261279", source="DOID:0060405", source="Orphanet:261279/e"}
xref: Orphanet:261279 {source="OMIM:613355", source="MONDO:equivalentTo", source="DOID:0060405"}
xref: SCTID:719584008 {source="MONDO:equivalentTo"}
xref: UMLS:C3150607 {source="MEDGEN:461957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613355", source="DOID:0060405"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016915 {source="Orphanet:261279"} ! partial deletion of the long arm of chromosome 17
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr17q23.1-q23.2 ! 17q23.1-q23.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013239
name: hereditary spastic paraplegia 41
def: "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise." [Orphanet:320355]
subset: gard_rare {source="GARD:17471", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:320355"}
subset: orphanet_rare {source="Orphanet:320355"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia 41" EXACT [DOID:0110793]
synonym: "autosomal dominant spastic paraplegia type 41" EXACT [DOID:0110793]
synonym: "hereditary spastic paraplegia type 41" EXACT [DOID:0110793, MONDORULE:2]
synonym: "spastic paraplegia 41, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613364]
synonym: "SPG41" EXACT ABBREVIATION [DOID:0110793, MONDO:Lexical, OMIM:613364, Orphanet:320355]
xref: DOID:0110793 {source="MONDO:equivalentTo"}
xref: GARD:17471 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320355/attributed", source="Orphanet:320355/ntbt", source="Orphanet:320355", source="DOID:0110793"}
xref: MEDGEN:854815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613364 {source="Orphanet:320355", source="MONDO:equivalentTo", source="Orphanet:320355/e", source="DOID:0110793"}
xref: Orphanet:320355 {source="OMIM:613364", source="MONDO:equivalentTo", source="DOID:0110793"}
xref: SCTID:763069002 {source="MONDO:equivalentTo"}
xref: UMLS:C3888208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854815"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110793", source="MONDO:Redundant", source="OMIM:613364", source="Orphanet:320355/inferred"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0013240
name: maturity-onset diabetes of the young type 10
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INS maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in INS" EXACT []
synonym: "maturity-onset diabetes of the young, type 10" RELATED [MONDO:Lexical, OMIM:613370]
synonym: "MODY10" EXACT ABBREVIATION [DOID:0111108, MONDO:Lexical, OMIM:613370]
xref: DOID:0111108 {source="MONDO:equivalentTo"}
xref: GARD:15652 {source="MONDO:GARD"}
xref: MEDGEN:461967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613370 {source="DOID:0111108", source="MONDO:equivalentTo"}
xref: SCTID:609577006 {source="MONDO:equivalentTo"}
xref: UMLS:C3150617 {source="MEDGEN:461967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018911 {source="DC-OMIM:613370", source="DOID:0111108", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 ! INS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 {source="MONDO:mim2gene_medgen"} ! INS

[Term]
id: MONDO:0013241
name: spinocerebellar ataxia type 30
def: "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia." [Orphanet:211017]
subset: gard_rare {source="GARD:4950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:211017"}
subset: orphanet_rare {source="Orphanet:211017"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA30" EXACT ABBREVIATION [GARD:0004950, MONDO:Lexical, OMIM:613371, Orphanet:211017]
synonym: "spinocerebellar ataxia 30" RELATED [MONDO:Lexical, OMIM:613371]
synonym: "spinocerebellar ataxia type 30" EXACT [GARD:0004950]
xref: DOID:0050979 {source="MONDO:equivalentTo"}
xref: GARD:4950 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:211017", source="Orphanet:211017/attributed", source="Orphanet:211017/ntbt"}
xref: MEDGEN:424821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537206 {source="MONDO:relatedTo", source="Orphanet:211017", source="Orphanet:211017/e"}
xref: MESH:C575214 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2212"}
xref: OMIM:613371 {source="MONDO:equivalentTo", source="Orphanet:211017", source="DOID:0050979", source="Orphanet:211017/e"}
xref: Orphanet:211017 {source="MONDO:equivalentTo", source="OMIM:613371"}
xref: SCTID:719253007 {source="MONDO:equivalentTo"}
xref: UMLS:C2936793 {source="MONDO:equivalentTo", source="MEDGEN:424821", source="MONDO:MEDGEN"}
is_a: MONDO:0019793 {source="Orphanet:211017"} ! autosomal dominant cerebellar ataxia type III

[Term]
id: MONDO:0013242
name: maturity-onset diabetes of the young type 11
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BLK maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in BLK" EXACT []
synonym: "maturity-onset diabetes of the young, type 11" RELATED [MONDO:Lexical, OMIM:613375]
synonym: "MODY11" EXACT ABBREVIATION [DOID:0111109, MONDO:Lexical, OMIM:613375]
xref: DOID:0111109 {source="MONDO:equivalentTo"}
xref: GARD:15653 {source="MONDO:GARD"}
xref: MEDGEN:461968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613375 {source="DOID:0111109", source="MONDO:equivalentTo"}
xref: Orphanet:552 {source="OMIM:613375"}
xref: SCTID:609578001 {source="MONDO:equivalentTo"}
xref: UMLS:C3150618 {source="MEDGEN:461968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018911 {source="DC-OMIM:613375", source="DOID:0111109", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1057 ! BLK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1057 {source="MONDO:mim2gene_medgen"} ! BLK

[Term]
id: MONDO:0013243
name: neuronopathy, distal hereditary motor, type 2C
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HMN 2C" RELATED [OMIM:613376]
synonym: "HMN2C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613376]
synonym: "HSPB3 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB3" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type IIC" RELATED [MONDO:Lexical, OMIM:613376]
synonym: "neuropathy, distal hereditary motor, type 2C" RELATED [OMIM:613376]
xref: DOID:0111209 {source="MONDO:equivalentTo"}
xref: GARD:18264 {source="MONDO:GARD"}
xref: MEDGEN:461969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613376 {source="MONDO:equivalentTo"}
xref: Orphanet:139525 {source="OMIM:613376"}
xref: UMLS:C3150619 {source="MEDGEN:461969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2
is_a: MONDO:0018894 {source="DC-OMIM:613376", source="MONDO:Redundant"} ! distal hereditary motor neuropathy
intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5248 ! HSPB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5248 {source="MONDO:mim2gene_medgen"} ! HSPB3

[Term]
id: MONDO:0013244
name: brachydactyly type E2
def: "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDE2" EXACT ABBREVIATION [DOID:0110976, MONDO:Lexical, OMIM:613382]
synonym: "brachydactyly type E caused by mutation in PTHLH" EXACT [MONDO:design_pattern]
synonym: "brachydactyly type E2" EXACT CLINGEN_LABEL []
synonym: "brachydactyly, type E2" RELATED [MONDO:Lexical, OMIM:613382]
synonym: "PTHLH brachydactyly type E" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110976 {source="MONDO:equivalentTo"}
xref: GARD:15654 {source="MONDO:GARD"}
xref: MEDGEN:461994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613382 {source="DOID:0110976", source="MONDO:equivalentTo"}
xref: Orphanet:93387 {source="OMIM:613382"}
xref: UMLS:C3150644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461994"}
is_a: MONDO:0019677 {source="MONDO:Redundant", source="Orphanet:93387/btnt"} ! brachydactyly type E
intersection_of: MONDO:0019677 ! brachydactyly type E
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9607 ! PTHLH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9607 {source="MONDO:mim2gene_medgen"} ! PTHLH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013245
name: syndromic multisystem autoimmune disease due to ITCH deficiency
subset: gard_rare {source="GARD:10775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228426"}
subset: orphanet_rare {source="Orphanet:228426"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADMFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613385]
synonym: "autoimmune disease, multisystem, with facial dysmorphism" RELATED [MONDO:Lexical, OMIM:613385]
synonym: "autoimmune disease, syndromic multisystem" RELATED [GARD:0010775]
synonym: "ITCH E3 ubiquitin ligase deficiency" RELATED [GARD:0010775]
synonym: "syndromic multisystem autoimmune disease" RELATED [GARD:0010775]
synonym: "syndromic multisystem autoimmune disease due to ITCH deficiency" EXACT CLINGEN_LABEL []
xref: GARD:10775 {source="MONDO:GARD"}
xref: MEDGEN:461999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200739 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613385 {source="Orphanet:228426", source="GARD:0010775", source="MONDO:equivalentTo", source="Orphanet:228426/e"}
xref: Orphanet:228426 {source="MONDO:equivalentTo", source="OMIM:613385"}
xref: UMLS:C3150649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461999"}
is_a: MONDO:0015159 {source="Orphanet:228426"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:228426", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:228426", source="Orphanet:228426/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder
relationship: excluded_subClassOf MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:228426", source="https://orcid.org/0000-0001-5208-3432"} ! respiratory system disorder
relationship: excluded_subClassOf MONDO:0019126 {source="Orphanet:228426", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete intractable diarrhea of infancy
relationship: excluded_subClassOf MONDO:0019787 {source="Orphanet:228426", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune enteropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015510", source="MONDO:0015616", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13890 {source="MONDO:mim2gene_medgen"} ! ITCH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency" xsd:anyURI {source="GARD:0010775"}

[Term]
id: MONDO:0013246
name: fatty liver disease, nonalcoholic, susceptibility to, 2
subset: predisposition
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613387]
synonym: "NAFLD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613387]
xref: MEDGEN:462001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613387 {source="MONDO:equivalentTo"}
xref: Orphanet:33271 {source="OMIM:613387"}
xref: UMLS:C3150651 {source="MONDO:equivalentTo", source="MEDGEN:462001", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613387", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0013209 {source="DC-OMIM:613387", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic dysfunction-associated steatotic liver disease
relationship: predisposes_towards MONDO:0013209 {source="OMIM:613387"} ! metabolic dysfunction-associated steatotic liver disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013247
name: Fanconi renotubular syndrome 2
def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fanconi renotubular syndrome 2" EXACT [MONDO:Lexical, OMIM:613388]
synonym: "Fanconi renotubular syndrome type 2" EXACT [MONDORULE:1, OMIM:613388]
synonym: "Fanconi syndrome caused by mutation in SLC34A1" EXACT [MONDO:design_pattern]
synonym: "FRTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613388]
synonym: "SLC34A1 Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080758 {source="MONDO:equivalentTo"}
xref: GARD:15655 {source="MONDO:GARD"}
xref: MEDGEN:462002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613388 {source="MONDO:equivalentTo"}
xref: Orphanet:3337 {source="OMIM:613388"}
xref: UMLS:C3150652 {source="MEDGEN:462002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007600 {source="Orphanet:3337/btnt"} ! primary Fanconi syndrome
is_a: MONDO:0100238 {source="MONDO:Redundant", source="OMIM:613388"} ! inherited Fanconi renotubular syndrome
intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 ! SLC34A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 {source="MONDO:mim2gene_medgen"} ! SLC34A1

[Term]
id: MONDO:0013248
name: Fanconi anemia complementation group O
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15656", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FANCO" EXACT ABBREVIATION [DOID:0111096, MONDO:Lexical, OMIM:613390]
synonym: "Fanconi anaemia caused by mutation in RAD51C" EXACT OMO:0003005 []
synonym: "Fanconi anaemia caused by mutation in Rad51C" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type O" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in RAD51C" EXACT []
synonym: "Fanconi anemia caused by mutation in Rad51C" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type O" EXACT [DOID:0111096, MONDORULE:1]
synonym: "Fanconi anemia, complementation group O" RELATED [MONDO:Lexical, OMIM:613390]
synonym: "Fanconi Anemia, complementation group type O" EXACT [MONDORULE:1, OMIM:613390]
synonym: "RAD51C Fanconi anaemia" EXACT OMO:0003005 []
synonym: "Rad51C Fanconi anaemia" EXACT OMO:0003005 []
synonym: "RAD51C Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Rad51C Fanconi anemia" EXACT [MONDO:design_pattern]
xref: DOID:0111096 {source="MONDO:equivalentTo"}
xref: GARD:15656 {source="MONDO:GARD"}
xref: MEDGEN:462003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613390 {source="DOID:0111096", source="MONDO:equivalentTo"}
xref: UMLS:C3150653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462003"}
is_a: MONDO:0019391 {source="DC-OMIM:613390", source="DOID:0111096", source="MONDO:Redundant", source="OMIM:613390"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 ! RAD51C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 {source="MONDO:mim2gene_medgen"} ! RAD51C

[Term]
id: MONDO:0013249
name: autosomal recessive nonsyndromic hearing loss 84A
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 84A" NARROW [DOID:0110529]
synonym: "autosomal recessive deafness 84A with vestibular dysfunction" NARROW [DOID:0110529]
synonym: "autosomal recessive nonsyndromic deafness 84A" NARROW [OMIM:613391]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 84A" NARROW [DOID:0110529, MONDORULE:4]
synonym: "autosomal recessive nonsyndromic hearing loss 84A" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 84" NARROW [OMIM:613391]
synonym: "deafness, autosomal recessive 84A" NARROW [MONDO:Lexical, OMIM:613391]
synonym: "deafness, autosomal recessive 84a" NARROW [OMIM:613391, OMIM:genemap2]
synonym: "deafness, autosomal recessive 84A, with vestibular dysfunction" NARROW [OMIM:613391]
synonym: "deafness, autosomal recessive type 84A" NARROW [MONDORULE:4, OMIM:613391]
synonym: "DFNB84A" NARROW ABBREVIATION [DOID:0110529, MONDO:Lexical, OMIM:613391]
synonym: "PTPRQ autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110529 {source="MONDO:equivalentTo"}
xref: GARD:22634 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110529"}
xref: MEDGEN:462004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613391 {source="DOID:0110529", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:613391"}
xref: UMLS:C3150654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462004"}
is_a: MONDO:0019588 {source="DC-OMIM:613391", source="DOID:0110529", source="MONDO:Redundant", source="OMIM:613391"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9679 ! PTPRQ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9679 {source="MONDO:mim2gene_medgen"} ! PTPRQ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013250
name: autosomal recessive nonsyndromic hearing loss 85
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2." [DOID:0110531, PMID:19888295]
subset: gard_rare {source="GARD:22635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 85" NARROW [DOID:0110531]
synonym: "autosomal recessive nonsyndromic deafness 85" NARROW [OMIM:613392]
synonym: "autosomal recessive nonsyndromic deafness type 85" NARROW [DOID:0110531, MONDORULE:2]
synonym: "deafness, autosomal recessive 85" NARROW [MONDO:Lexical, OMIM:613392, OMIM:genemap2]
synonym: "DFNB85" NARROW ABBREVIATION [DOID:0110531, MONDO:Lexical, OMIM:613392]
xref: DOID:0110531 {source="MONDO:equivalentTo"}
xref: GARD:22635 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110531"}
xref: MEDGEN:463629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613392 {source="MONDO:equivalentTo", source="DOID:0110531"}
xref: UMLS:C3160740 {source="MEDGEN:463629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:613392", source="DOID:0110531", source="OMIM:613392"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013251
name: Birbeck granule deficiency
subset: otar {source="MONDO:OTAR"}
synonym: "Birbeck granule deficiency" EXACT [OMIM:613393, OMIM:genemap2]
synonym: "Birbeck granules, absence of" RELATED [OMIM:613393]
xref: MEDGEN:462007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613393 {source="MONDO:equivalentTo"}
xref: UMLS:C3150657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462007"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17935 {source="MONDO:mim2gene_medgen"} ! CD207
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013252
name: Warsaw breakage syndrome
def: "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." [DOID:0060535, PMID:20137776, PMID:21490908, PMID:23033317, PMID:26089203]
subset: gard_rare {source="GARD:13708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280558"}
subset: ordo_malformation_syndrome {source="Orphanet:280558"}
subset: orphanet_rare {source="Orphanet:280558"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "WABS" EXACT ABBREVIATION [DOID:0060535, MONDO:Lexical, OMIM:613398, Orphanet:280558]
synonym: "WARSAW breakage syndrome" RELATED [OMIM:613398]
synonym: "Warsaw breakage syndrome" EXACT [MONDO:Lexical, OMIM:613398]
xref: DOID:0060535 {source="MONDO:equivalentTo"}
xref: GARD:13708 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:462008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C164675 {source="MONDO:equivalentTo"}
xref: OMIM:613398 {source="Orphanet:280558", source="MONDO:equivalentTo", source="Orphanet:280558/e", source="DOID:0060535"}
xref: Orphanet:280558 {source="OMIM:613398", source="MONDO:equivalentTo", source="DOID:0060535"}
xref: SCTID:702829000 {source="MONDO:equivalentTo"}
xref: UMLS:C3150658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462008"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-6330-7526"} ! hereditary disease
is_a: MONDO:0015161 {source="Orphanet:280558"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:280558", source="Orphanet:280558/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2736 {source="MONDO:mim2gene_medgen"} ! DDX11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6646" xsd:anyURI

[Term]
id: MONDO:0013253
name: breast-ovarian cancer, familial, susceptibility to, 3
def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "breast cancer, familial, susceptibility to, 3" RELATED [OMIM:613399]
synonym: "breast-ovarian cancer, familial, susceptibility to, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613399]
synonym: "breast-ovarian cancer, familial, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613399]
synonym: "BROVCA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613399]
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51C" EXACT []
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in Rad51C" EXACT [MONDO:design_pattern]
synonym: "ovarian cancer, familial, susceptibility to, 3" RELATED [OMIM:613399]
synonym: "RAD51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Rad51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern]
synonym: "susceptibility to familial breast-ovarian cancer 3" RELATED [OMIM:613399]
xref: MEDGEN:462009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613399 {source="MONDO:equivalentTo"}
xref: Orphanet:145 {source="OMIM:613399"}
xref: Orphanet:227535 {source="OMIM:613399"}
xref: UMLS:C3150659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462009"}
is_a: MONDO:0100526 {source="OMIM:613399"} ! breast-ovarian cancer, familial, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 ! RAD51C
intersection_of: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome
relationship: excluded_subClassOf MONDO:0003582 {source="OMIM:613399", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast ovarian cancer syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 {source="MONDO:mim2gene_medgen"} ! RAD51C
relationship: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome

[Term]
id: MONDO:0013254
name: microcephaly, seizures, and developmental delay
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10933", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early infantile epileptic encephalopathy-10" RELATED [GARD:0010933]
synonym: "EIEE10" RELATED ABBREVIATION [GARD:0010933]
synonym: "epileptic encephalopathy, early infantile, 10" RELATED [OMIM:613402]
synonym: "MCSZ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613402]
synonym: "microcephaly - seizures - developmental delay" RELATED [GARD:0010933]
synonym: "microcephaly, seizures, and developmental delay" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613402]
xref: DOID:0080457 {source="MONDO:equivalentTo"}
xref: GARD:10933 {source="MONDO:GARD"}
xref: MEDGEN:462017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613402 {source="MONDO:equivalentTo"}
xref: Orphanet:228418 {source="MONDO:equivalentObsolete", source="GARD:0010933"}
xref: UMLS:C3150667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462017"}
is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-6330-7526"} ! microcephaly
is_a: MONDO:0100062 {source="DC-OMIM:613402", source="OMIM:613402"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9154 {source="MONDO:mim2gene_medgen"} ! PNKP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay" xsd:anyURI {source="GARD:0010933"}

[Term]
id: MONDO:0013255
name: arthrogryposis, renal dysfunction, and cholestasis 2
def: "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613404]
synonym: "arthrogryposis, renal dysfunction, and cholestasis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613404]
synonym: "arthrogryposis, renal dysfunction, and cholestasis type 2" EXACT [MONDORULE:1, OMIM:613404]
synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39" EXACT [MONDO:design_pattern]
synonym: "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111354 {source="MONDO:equivalentTo"}
xref: GARD:15658 {source="MONDO:GARD"}
xref: MEDGEN:462022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613404 {source="MONDO:equivalentTo"}
xref: Orphanet:2697 {source="OMIM:613404"}
xref: UMLS:C3150672 {source="MEDGEN:462022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017123 {source="DC-OMIM:613404", source="MONDO:Redundant", source="OMIM:613404", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome
intersection_of: MONDO:0017123 ! arthrogryposis-renal dysfunction-cholestasis syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20347 ! VIPAS39
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20347 {source="MONDO:mim2gene_medgen"} ! VIPAS39

[Term]
id: MONDO:0013256
name: chromosome 15q24 deletion syndrome
def: "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." [Orphanet:94065]
subset: gard_rare {source="GARD:12219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:94065"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:94065"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "15q24 microdeletion syndrome" EXACT [DOID:0060395, MONDO:0019785]
synonym: "15q24 recurrent microdeletion syndrome" EXACT [DECIPHER:66]
synonym: "chromosome 15q24 deletion syndrome" EXACT CLINGEN_LABEL [OMIM:613406]
synonym: "chromosome 15Q24 Duplication syndrome" RELATED [OMIM:613406]
synonym: "Del(15)(q24)" EXACT [Orphanet:94065]
synonym: "monosomy 15q24" EXACT [Orphanet:94065]
synonym: "WITKOS" RELATED ABBREVIATION [OMIM:613406]
synonym: "Witteveen-Kolk syndrome" RELATED [OMIM:613406]
xref: DECIPHER:66 {source="MONDO:equivalentTo"}
xref: DOID:0060395 {source="MONDO:equivalentTo"}
xref: GARD:12219 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="DOID:0060395", source="Orphanet:94065", source="Orphanet:94065/attributed", source="Orphanet:94065/ntbt"}
xref: MEDGEN:462024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579849 {source="DOID:0060395", source="MONDO:equivalentTo"}
xref: OMIM:613406 {source="DOID:0060395", source="Orphanet:94065", source="Orphanet:94065/ntbt", source="MONDO:equivalentTo"}
xref: Orphanet:94065 {source="DOID:0060395", source="MONDO:equivalentTo", source="OMIM:613406"}
xref: SCTID:699308002 {source="MONDO:equivalentTo"}
xref: UMLS:C3150674 {source="MEDGEN:462024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613406", source="DOID:0060395"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015159 {source="Orphanet:94065", source="Orphanet:94065/inferred"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016913 {source="Orphanet:94065"} ! partial deletion of the long arm of chromosome 15
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr15q24 ! 15q24 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:94065", source="Orphanet:94065/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19353 {source="MONDO:mim2gene_medgen"} ! SIN3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013257
name: leprosy, susceptibility to, 6
subset: predisposition
synonym: "leprosy, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613407]
synonym: "LPRS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613407]
xref: MEDGEN:462026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613407 {source="MONDO:equivalentTo"}
xref: Orphanet:548 {source="OMIM:613407"}
xref: UMLS:C3150676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462026"}
is_a: MONDO:0020573 {source="OMIM:613407", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005124 {source="DC-OMIM:613407", source="https://orcid.org/0000-0001-5208-3432"} ! leprosy
relationship: predisposes_towards MONDO:0005124 {source="OMIM:613407"} ! leprosy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013258
name: autism, susceptibility to, 16
subset: predisposition
synonym: "autism susceptibility 16" EXACT [OMIM:613410, OMIM:genemap2]
synonym: "autism with or without seizures" RELATED [OMIM:613410]
synonym: "autism, susceptibility to, 16" EXACT [MONDO:Lexical, OMIM:613410]
synonym: "autism, susceptibility to, type 16" EXACT [MONDORULE:2, OMIM:613410]
synonym: "AUTS16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613410]
synonym: "susceptibility to autism 16" RELATED [OMIM:613410]
xref: MEDGEN:462027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613410 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:613410"}
xref: UMLS:C3150677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462027"}
is_a: MONDO:0020836 {source="OMIM:613410"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20653 ! SLC9A9
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20653 {source="MONDO:mim2gene_medgen"} ! SLC9A9
relationship: predisposes_towards MONDO:0005260 ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013259
name: Oguchi disease-2
def: "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital stationary night blindness Oguchi type 2" EXACT [DOID:0110713]
synonym: "CSNBO2" EXACT ABBREVIATION [DOID:0110713]
synonym: "GRK1 Oguchi disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary, Oguchi type 2" RELATED [OMIM:613411]
synonym: "Oguchi disease 2" RELATED [OMIM:613411]
synonym: "Oguchi disease caused by mutation in GRK1" EXACT [MONDO:design_pattern]
synonym: "Oguchi disease type 2" EXACT [MONDORULE:1, OMIM:613411]
xref: DOID:0110713 {source="MONDO:equivalentTo"}
xref: GARD:15660 {source="MONDO:GARD"}
xref: MEDGEN:462028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613411 {source="DOID:0110713", source="MONDO:equivalentTo"}
xref: Orphanet:75382 {source="OMIM:613411"}
xref: UMLS:C3150678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462028"}
is_a: MONDO:0016293 {source="DC-OMIM:613411", source="OMIM:613411"} ! congenital stationary night blindness
is_a: MONDO:0019152 {source="MONDO:Redundant", source="Orphanet:75382/btnt"} ! Oguchi disease
intersection_of: MONDO:0019152 ! Oguchi disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10013 ! GRK1
relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110713", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary night blindness
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10013 {source="MONDO:mim2gene_medgen"} ! GRK1

[Term]
id: MONDO:0013260
name: esophagitis, eosinophilic, 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EOE2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613412]
synonym: "esophagitis, eosinophilic, 2" EXACT [MONDO:Lexical, OMIM:613412]
xref: MEDGEN:462029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613412 {source="MONDO:equivalentTo"}
xref: Orphanet:73247 {source="OMIM:613412"}
xref: UMLS:C3150679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462029"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005361 {source="DC-OMIM:613412"} ! eosinophilic esophagitis

[Term]
id: MONDO:0013261
name: dilated cardiomyopathy 1R
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1R" RELATED [MONDO:Lexical, OMIM:613424]
synonym: "cardiomyopathy, dilated, type 1R" EXACT [MONDORULE:4, OMIM:613424]
synonym: "CMD1R" EXACT ABBREVIATION [DOID:0110456, MONDO:Lexical, OMIM:613424]
synonym: "dilated cardiomyopathy type 1R" EXACT [DOID:0110456, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 4" RELATED [OMIM:613424]
xref: DOID:0110456 {source="MONDO:equivalentTo"}
xref: GARD:15661 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110456"}
xref: MEDGEN:462031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613424 {source="DOID:0110456", source="MONDO:equivalentTo"}
xref: Orphanet:54260 {source="OMIM:613424"}
xref: UMLS:C3150681 {source="MEDGEN:462031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018901 {source="DC-OMIM:613424", source="OMIM:613424"} ! left ventricular noncompaction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 {source="MONDO:mim2gene_medgen"} ! ACTC1

[Term]
id: MONDO:0013262
name: dilated cardiomyopathy 1S
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12832", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1S" RELATED [GARD:0012832, MONDO:Lexical, OMIM:613426]
synonym: "cardiomyopathy, dilated, type 1S" EXACT [MONDORULE:4, OMIM:613426]
synonym: "CMD1S" EXACT ABBREVIATION [DOID:0110454, MONDO:Lexical, OMIM:613426]
synonym: "dilated cardiomyopathy type 1S" EXACT [DOID:0110454, MONDORULE:4]
synonym: "dilated cardiomyopathy-1S" RELATED [GARD:0012832]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH7" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 5" RELATED [GARD:0012832, OMIM:613426]
synonym: "MYH7 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110454 {source="MONDO:equivalentTo"}
xref: GARD:12832 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110454"}
xref: MEDGEN:371831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563538 {source="MONDO:equivalentTo"}
xref: OMIM:613426 {source="MONDO:equivalentTo", source="DOID:0110454"}
xref: Orphanet:54260 {source="OMIM:613426"}
xref: UMLS:C1834481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371831"}
is_a: MONDO:0018901 {source="DC-OMIM:613426", source="OMIM:613426"} ! left ventricular noncompaction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12832/dilated-cardiomyopathy-1s" xsd:anyURI {source="GARD:0012832"}

[Term]
id: MONDO:0013263
name: retinitis pigmentosa 54
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PCARE retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 54" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613428]
synonym: "retinitis pigmentosa caused by mutation in PCARE" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 54" EXACT [DOID:0110364, MONDORULE:2, OMIM:613428]
synonym: "RP54" EXACT ABBREVIATION [DOID:0110364, MONDO:Lexical, OMIM:613428]
xref: DOID:0110364 {source="MONDO:equivalentTo"}
xref: GARD:15662 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110364"}
xref: MEDGEN:462041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613428 {source="MONDO:equivalentTo", source="DOID:0110364"}
xref: UMLS:C3150691 {source="MEDGEN:462041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:613428", source="DOID:0110364", source="MONDO:Redundant", source="OMIM:613428"} ! retinitis pigmentosa
is_a: MONDO:0800404 {source="https://clinicalgenome.org/affiliation/40072/"} ! PCARE-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34383 ! PCARE
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34383 {source="MONDO:mim2gene_medgen"} ! PCARE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0013264
name: amyotrophic lateral sclerosis type 12
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS12" EXACT ABBREVIATION [DOID:0060203, MONDO:Lexical, OMIM:613435]
synonym: "amyotrophic lateral sclerosis 12" EXACT [DOID:0060203, MONDO:Lexical, OMIM:613435]
synonym: "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" EXACT [OMIM:613435, OMIM:genemap2]
synonym: "amyotrophic lateral sclerosis caused by mutation in OPTN" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 12" EXACT [MONDORULE:2, OMIM:613435]
synonym: "OPTN amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060203 {source="MONDO:equivalentTo"}
xref: GARD:15663 {source="MONDO:GARD"}
xref: MEDGEN:462042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613435 {source="MONDO:equivalentTo", source="DOID:0060203"}
xref: Orphanet:803 {source="OMIM:613435"}
xref: UMLS:C3150692 {source="MEDGEN:462042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DOID:0060203", source="MONDO:Redundant", source="OMIM:613435"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17142 ! OPTN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17142 {source="MONDO:mim2gene_medgen"} ! OPTN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013265
name: autism, susceptibility to, 17
subset: predisposition
synonym: "autism susceptibility 17" EXACT [OMIM:613436, OMIM:genemap2]
synonym: "autism, susceptibility to, 17" EXACT [MONDO:Lexical, OMIM:613436]
synonym: "autism, susceptibility to, type 17" EXACT [MONDORULE:2, OMIM:613436]
synonym: "AUTS17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613436]
synonym: "susceptibility to autism 17" RELATED [OMIM:613436]
xref: MEDGEN:462043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613436 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:613436"}
xref: UMLS:C3150693 {source="MEDGEN:462043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 {source="OMIM:613436"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14295 ! SHANK2
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14295 {source="MONDO:mim2gene_medgen"} ! SHANK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013266
name: intellectual disability, autosomal dominant 20
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2013"}
subset: rare
synonym: "autosomal dominant intellectual disability 20" RELATED [DOID:0070050]
synonym: "autosomal dominant mental retardation 20" RELATED DEPRECATED [DOID:0070050]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C" EXACT [MONDO:design_pattern]
synonym: "chromosome 5q14.3 deletion syndrome" EXACT [OMIM:613443, OMIM:genemap2]
synonym: "chromosome 5Q14.3 deletion syndrome, proximal" RELATED [OMIM:613443]
synonym: "intellectual disability, autosomal dominant 20" EXACT CLINGEN_LABEL [DOID:0070050, MONDO:Lexical, OMIM:613443]
synonym: "intellectual disability, autosomal dominant type 20" EXACT [MONDORULE:2, OMIM:613443]
synonym: "intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations" RELATED [OMIM:613443]
synonym: "MEF2C autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MEF2C Deficiency" EXACT [NORD:2013]
synonym: "mental retardation, autosomal dominant 20" EXACT DEPRECATED [DOID:0070050, MONDO:Lexical, OMIM:613443]
synonym: "mental retardation, autosomal dominant type 20" EXACT DEPRECATED [MONDORULE:2, OMIM:613443]
synonym: "mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" RELATED DEPRECATED [OMIM:613443]
synonym: "MRD20" EXACT ABBREVIATION [DOID:0070050, MONDO:Lexical, OMIM:613443]
synonym: "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language" EXACT [OMIM:613443, OMIM:genemap2]
xref: DOID:0070050 {source="MONDO:equivalentTo"}
xref: MEDGEN:462050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:2013 {source="MONDO:NORD"}
xref: OMIM:613443 {source="MONDO:equivalentTo", source="DOID:0070050"}
xref: Orphanet:228384 {source="MONDO:relatedTo", source="OMIM:613443"}
xref: UMLS:C3150700 {source="MEDGEN:462050", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="DC-OMIM:613443", source="DOID:0070050", source="MONDO:Redundant", source="OMIM:613443"} ! autosomal dominant non-syndromic intellectual disability
intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6996 ! MEF2C
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6996 {source="MONDO:mim2gene_medgen"} ! MEF2C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013267
name: distal 16p11.2 microdeletion syndrome
def: "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." [Orphanet:261222]
subset: gard_rare {source="GARD:17244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261222"}
subset: ordo_malformation_syndrome {source="Orphanet:261222"}
subset: orphanet_rare {source="Orphanet:261222"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "body mass index QTL16" EXACT [OMIM:613444, OMIM:genemap2]
synonym: "body Mass index quantitative trait locus 16" RELATED [OMIM:613444]
synonym: "chromosome 16p11.2 deletion syndrome, 220-KB" RELATED [OMIM:613444]
synonym: "chromosome 16p11.2 deletion syndrome, 220kb" RELATED [DOID:0060398]
synonym: "chromosome 16p11.2 deletion syndrome, type 220kb" EXACT [DOID:0060398, MONDORULE:9]
synonym: "distal 16p11.2 microdeletion syndrome" EXACT [DOID:0060398]
synonym: "distal del(16)(p11.2)" EXACT [Orphanet:261222]
synonym: "distal monosomy 16p11.2" EXACT [Orphanet:261222]
synonym: "obesity, susceptibility to" RELATED [OMIM:613444]
xref: DOID:0060398 {source="MONDO:equivalentTo"}
xref: GARD:17244 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="DOID:0060398", source="Orphanet:261222", source="Orphanet:261222/attributed", source="Orphanet:261222/ntbt"}
xref: MEDGEN:462051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613444 {source="DOID:0060398", source="MONDO:equivalentTo", source="Orphanet:261222", source="Orphanet:261222/e"}
xref: Orphanet:261222 {source="DOID:0060398", source="OMIM:613444", source="MONDO:equivalentTo"}
xref: SCTID:733521003 {source="MONDO:equivalentTo"}
xref: UMLS:C3150701 {source="MEDGEN:462051", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613444", source="DOID:0060398"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016894 {source="Orphanet:261222"} ! partial deletion of the short arm of chromosome 16
relationship: disease_arises_from_structure CHR:9606-chr16p11.2 {source="https://orcid.org/0000-0002-4142-7153"} ! 16p11.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013268
name: frontonasal dysplasia with alopecia and genital anomaly
def: "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." [Orphanet:228390]
subset: gard_rare {source="GARD:12641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228390"}
subset: ordo_malformation_syndrome {source="Orphanet:228390"}
subset: orphanet_rare {source="Orphanet:228390"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALX4-related FNDAG" EXACT [Orphanet:228390]
synonym: "craniofrontonasal dysplasia with alopecia and hypogonadism" EXACT [Orphanet:228390]
synonym: "FND2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613451]
synonym: "frontonasal dysplasia 2" RELATED [MONDO:Lexical, OMIM:613451]
synonym: "frontonasal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613451]
synonym: "frontonasal dysplasia with alopecia and genital abnomality" EXACT [Orphanet:228390]
xref: DOID:0081046 {source="MONDO:equivalentTo"}
xref: GARD:12641 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:228390/attributed", source="Orphanet:228390/ntbt", source="Orphanet:228390"}
xref: MEDGEN:462053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613451 {source="Orphanet:228390", source="MONDO:equivalentTo", source="Orphanet:228390/e"}
xref: Orphanet:228390 {source="MONDO:equivalentTo", source="OMIM:613451"}
xref: SCTID:725029001 {source="MONDO:equivalentTo"}
xref: UMLS:C3150703 {source="MEDGEN:462053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0016643 {source="DC-OMIM:613451", source="OMIM:613451", source="Orphanet:228390"} ! frontonasal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 {source="MONDO:mim2gene_medgen"} ! ALX4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly" xsd:anyURI {source="GARD:0012641"}

[Term]
id: MONDO:0013269
name: autosomal recessive nonsyndromic hearing loss 91
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22636", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 91" NARROW [DOID:0110536]
synonym: "autosomal recessive nonsyndromic deafness 91" NARROW [OMIM:613453]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 91" NARROW [DOID:0110536, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 91" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 91" NARROW [MONDO:Lexical, OMIM:613453, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 91" NARROW [MONDORULE:2, OMIM:613453]
synonym: "DFNB91" NARROW ABBREVIATION [DOID:0110536, MONDO:Lexical, OMIM:613453]
synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110536 {source="MONDO:equivalentTo"}
xref: GARD:22636 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110536"}
xref: MEDGEN:462054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613453 {source="DOID:0110536", source="MONDO:equivalentTo"}
xref: UMLS:C3150704 {source="MEDGEN:462054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:613453", source="DOID:0110536", source="MONDO:Redundant", source="OMIM:613453"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8950 ! SERPINB6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8950 {source="MONDO:mim2gene_medgen"} ! SERPINB6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013270
name: Rett syndrome, congenital variant
subset: gard_rare {source="GARD:15664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Rett syndrome, congenital variant" EXACT [OMIM:613454]
xref: GARD:15664 {source="MONDO:GARD"}
xref: MEDGEN:462055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176903 {source="MONDO:equivalentTo"}
xref: OMIM:613454 {source="MONDO:equivalentTo"}
xref: Orphanet:3095 {source="OMIM:613454"}
xref: UMLS:C3150705 {source="MEDGEN:462055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017746 {source="Orphanet:3095/btnt"} ! atypical Rett syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3811 {source="MONDO:mim2gene_medgen"} ! FOXG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013271
name: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306542"}
subset: ordo_malformation_syndrome {source="Orphanet:306542"}
subset: orphanet_rare {source="Orphanet:306542"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALX1-related frontonasal dysplasia" EXACT [Orphanet:306542]
synonym: "FND3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613456]
synonym: "frontonasal dysplasia 3" RELATED [GARD:0012640, MONDO:Lexical, OMIM:613456]
synonym: "frontonasal dysplasia type 3" EXACT [MONDORULE:1, OMIM:613456]
xref: DOID:0081047 {source="MONDO:equivalentTo"}
xref: GARD:12640 {source="MONDO:GARD"}
xref: MEDGEN:462056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613456 {source="Orphanet:306542/e", source="MONDO:equivalentTo", source="Orphanet:306542"}
xref: Orphanet:306542 {source="OMIM:613456", source="MONDO:equivalentTo"}
xref: UMLS:C3150706 {source="MONDO:equivalentTo", source="MEDGEN:462056", source="MONDO:MEDGEN"}
is_a: MONDO:0016643 {source="DC-OMIM:613456", source="OMIM:613456", source="Orphanet:306542"} ! frontonasal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1494 {source="MONDO:mim2gene_medgen"} ! ALX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome" xsd:anyURI {source="GARD:0012640"}

[Term]
id: MONDO:0013272
name: chromosome 14q11-q22 deletion syndrome
def: "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." [Orphanet:261120]
subset: gard_rare {source="GARD:17241", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261120"}
subset: ordo_malformation_syndrome {source="Orphanet:261120"}
subset: orphanet_rare {source="Orphanet:261120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "14q11.2 microdeletion syndrome" EXACT [DOID:0060392]
synonym: "chromosome 14q11-q22 deletion syndrome" EXACT [OMIM:613457]
synonym: "chromosome 14q11-q22 deletion syndrome, isolated cases" EXACT [OMIM:613457, OMIM:genemap2]
synonym: "Del(14)(q11.2)" EXACT [Orphanet:261120]
synonym: "monosomy 14q11.2" EXACT [Orphanet:261120]
xref: DOID:0060392 {source="MONDO:equivalentTo"}
xref: GARD:17241 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261120/attributed", source="Orphanet:261120/ntbt", source="Orphanet:261120"}
xref: MEDGEN:462057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613457 {source="Orphanet:261120", source="MONDO:equivalentTo", source="Orphanet:261120/e", source="DOID:0060392"}
xref: Orphanet:261120 {source="OMIM:613457", source="MONDO:equivalentTo", source="DOID:0060392"}
xref: SCTID:719047001 {source="MONDO:equivalentTo"}
xref: UMLS:C3150707 {source="MEDGEN:462057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613457", source="DOID:0060392"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016912 {source="Orphanet:261120"} ! partial deletion of the long arm of chromosome 14
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr14q11-q22 ! 14q11-q22 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013273
name: chromosome 16p13.3 duplication syndrome
def: "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems." [Orphanet:96078]
subset: gard_rare {source="GARD:10755", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96078"}
subset: ordo_malformation_syndrome {source="Orphanet:96078"}
subset: orphanet_rare {source="Orphanet:96078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "16p13.3 duplication" RELATED [GARD:0010755]
synonym: "16p13.3 microduplication syndrome" EXACT [DOID:0060431]
synonym: "chromosome 16p13.3 duplication" RELATED [GARD:0010755]
synonym: "chromosome 16p13.3 duplication syndrome" EXACT [OMIM:613458]
synonym: "chromosome 16p13.3 duplication syndrome, isolated cases" EXACT [OMIM:613458, OMIM:genemap2]
synonym: "distal duplication 16p" EXACT [DOID:0060431, Orphanet:96078]
synonym: "distal trisomy 16p" EXACT [DOID:0060431, Orphanet:96078]
synonym: "dup(16)(p13.3)" EXACT [Orphanet:96078]
synonym: "interstitial 16p13.3 duplication" RELATED [GARD:0010755]
synonym: "telomeric duplication 16p" EXACT [DOID:0060431, Orphanet:96078]
synonym: "trisomy 16pter" EXACT [Orphanet:96078]
xref: DOID:0060431 {source="MONDO:equivalentTo"}
xref: GARD:10755 {source="MONDO:GARD"}
xref: MEDGEN:462058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613458 {source="Orphanet:96078", source="DOID:0060431", source="MONDO:equivalentTo", source="Orphanet:96078/e", source="GARD:0010755"}
xref: Orphanet:96078 {source="DOID:0060431", source="MONDO:equivalentTo", source="OMIM:613458", source="GARD:0010755"}
xref: SCTID:733473000 {source="MONDO:equivalentTo"}
xref: UMLS:C3150708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462058"}
is_a: MONDO:0000762 {source="DC-OMIM:613458", source="DOID:0060431"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016949 {source="Orphanet:96078"} ! partial duplication of the short arm of chromosome 16
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr16p13.3 ! 16p13.3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication" xsd:anyURI {source="GARD:0010755"}

[Term]
id: MONDO:0013274
name: retinitis pigmentosa 51
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 51" EXACT [MONDO:Lexical, OMIM:613464]
synonym: "retinitis pigmentosa caused by mutation in TTC8" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 51" EXACT [DOID:0110398, MONDORULE:2, OMIM:613464]
synonym: "RP51" EXACT ABBREVIATION [DOID:0110398, MONDO:Lexical, OMIM:613464]
synonym: "TTC8 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110398 {source="MONDO:equivalentTo"}
xref: GARD:15665 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110398"}
xref: MEDGEN:462065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613464 {source="MONDO:equivalentTo", source="DOID:0110398"}
xref: UMLS:C3150715 {source="MEDGEN:462065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:613464", source="DOID:0110398", source="MONDO:Redundant", source="OMIM:613464"} ! retinitis pigmentosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20087 {source="MONDO:mim2gene_medgen"} ! TTC8

[Term]
id: MONDO:0013275
name: hemolytic anemia due to glucophosphate isomerase deficiency
def: "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." [Orphanet:712]
subset: gard_rare {source="GARD:16541", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:712"}
subset: orphanet_rare {source="Orphanet:712"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glucosephosphate isomerase deficiency" EXACT [GARD:0002502]
synonym: "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" RELATED [OMIM:613470]
xref: GARD:16541 {source="MONDO:GARD"}
xref: ICD10CM:D55.2 {source="Orphanet:712/attributed", source="Orphanet:712/ntbt", source="Orphanet:712"}
xref: MEDGEN:462080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613470 {source="Orphanet:712", source="MONDO:equivalentTo", source="Orphanet:712/e"}
xref: Orphanet:712 {source="MONDO:equivalentTo", source="OMIM:613470"}
xref: UMLS:C3150730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462080"}
is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
is_a: MONDO:0006506 ! congenital nonspherocytic hemolytic anemia
is_a: MONDO:0017688 {source="MONDO:Redundant", source="Orphanet:712", source="PMID:33340416"} ! disorder of glycolysis
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4458 {source="MONDO:mim2gene_medgen"} ! GPI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0013276
name: Reynolds syndrome
def: "An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." [https://orcid.org/0000-0001-5208-3432, Orphanet:779]
subset: gard_rare {source="GARD:4697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:779"}
subset: orphanet_rare {source="Orphanet:779"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "primary biliary cirrhosis and systemic scleroderma" EXACT [Orphanet:779]
synonym: "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" RELATED [OMIM:613471]
synonym: "Reynolds syndrome" EXACT [OMIM:613471]
xref: GARD:4697 {source="MONDO:GARD"}
xref: ICD10CM:K74.3 {source="Orphanet:779", source="Orphanet:779/nd"}
xref: ICD10CM:L94.0 {source="Orphanet:779", source="Orphanet:779/nd"}
xref: MEDGEN:450547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613471 {source="Orphanet:779", source="MONDO:equivalentTo", source="Orphanet:779/e"}
xref: Orphanet:779 {source="MONDO:equivalentTo", source="OMIM:613471"}
xref: SCTID:715401008 {source="MONDO:equivalentTo"}
xref: UMLS:C0748397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450547"}
is_a: MONDO:0007179 {source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:779", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6518 {source="MONDO:mim2gene_medgen"} ! LBR
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome" xsd:anyURI {source="GARD:0004697"}

[Term]
id: MONDO:0013277
name: developmental and epileptic encephalopathy, 5
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE5" EXACT ABBREVIATION [OMIM:613477]
synonym: "developmental and epileptic encephalopathy 5" EXACT [OMIM:613477, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in SPTAN1" EXACT [MONDO:design_pattern]
synonym: "EIEE5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613477]
synonym: "epileptic encephalopathy, early infantile, 5" EXACT [MONDO:Lexical, OMIM:613477]
synonym: "epileptic encephalopathy, early infantile, type 5" EXACT [MONDORULE:1, OMIM:613477]
synonym: "SPTAN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080438 {source="MONDO:equivalentTo"}
xref: GARD:12949 {source="MONDO:GARD"}
xref: MEDGEN:462081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613477 {source="MONDO:equivalentTo"}
xref: Orphanet:3451 {source="OMIM:613477"}
xref: UMLS:C3150731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462081"}
is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome
is_a: MONDO:0100062 {source="DC-OMIM:613477", source="MONDO:Redundant", source="OMIM:613477"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11273 ! SPTAN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11273 {source="MONDO:mim2gene_medgen"} ! SPTAN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013278
name: lymphatic malformation 3
def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16456", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GJC2 hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary lymphedema caused by mutation in GJC2" EXACT [MONDO:design_pattern]
synonym: "LMPH1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613480]
synonym: "lymphedema, hereditary, 1C" EXACT [OMIM:613480]
synonym: "lymphedema, hereditary, IC" RELATED [MONDO:Lexical, OMIM:613480]
synonym: "lymphedema, hereditary, type 1C" EXACT [MONDORULE:4, OMIM:613480]
xref: DOID:0070208 {source="MONDO:equivalentTo"}
xref: GARD:16456 {source="MONDO:GARD"}
xref: MEDGEN:1652857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613480 {source="MONDO:equivalentTo"}
xref: Orphanet:79452 {source="OMIM:613480"}
xref: UMLS:C4747646 {source="MEDGEN:1652857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:613480", source="Orphanet:79452/btnt"} ! lymphatic malformation
intersection_of: MONDO:0019313 ! lymphatic malformation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 ! GJC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 {source="MONDO:mim2gene_medgen"} ! GJC2

[Term]
id: MONDO:0013279
name: long QT syndrome 13
def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KCNJ5 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 13" EXACT [MONDO:Lexical, OMIM:613485]
synonym: "long QT syndrome caused by mutation in KCNJ5" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 13" EXACT [DOID:0110654, MONDORULE:2, OMIM:613485]
synonym: "LQT13" EXACT ABBREVIATION [DOID:0110654, MONDO:Lexical, OMIM:613485]
xref: DOID:0110654 {source="MONDO:equivalentTo"}
xref: GARD:15666 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="DOID:0110654"}
xref: MEDGEN:462083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613485 {source="DOID:0110654", source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="OMIM:613485", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:613485"}
xref: UMLS:C3150733 {source="MEDGEN:462083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019171 {source="OMIM:613485", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6266 ! KCNJ5
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110654", source="OMIM:613485", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6266 {source="MONDO:mim2gene_medgen"} ! KCNJ5

[Term]
id: MONDO:0013280
name: myxoid liposarcoma
def: "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma." [NCIT:C27781]
subset: gard_rare {source="GARD:15667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mixed-type liposarcoma" RELATED [DOID:5709]
synonym: "myxoid liposarcoma" EXACT [DOID:5363, NCIT:C27781, NCIT:C3735, OMIM:613488]
synonym: "myxoid liposarcoma (morphologic abnormality)" EXACT [DOID:5363]
synonym: "myxoid/round cell liposarcoma" BROAD [NCIT:C27781]
synonym: "Myxoliposarcoma" RELATED [GARD:0007157]
xref: DOID:5363 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000613"}
xref: DOID:5709 {source="MONDO:equivalentTo"}
xref: EFO:0000613 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:15667 {source="MONDO:GARD"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8852/3 {source="NCIT:C27781"}
xref: MEDGEN:104903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018208 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"}
xref: NCIT:C27781 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5709"}
xref: OMIM:613488 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"}
xref: Orphanet:69078 {source="OMIM:613488"}
xref: Orphanet:99967 {source="OMIM:613488"}
xref: SCTID:27849002 {source="EFO:0000613", source="DOID:5363"}
xref: SCTID:404069006 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"}
xref: UMLS:C0206634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104903"}
is_a: MONDO:0005060 {source="DOID:5363", source="DOID:5709", source="EFO:0000613", source="MESH:D018208", source="MONDO:Redundant", source="NCIT:C27781"} ! liposarcoma
is_a: MONDO:0020561 {source="Orphanet:99967/btnt"} ! myxoid/round cell liposarcoma
relationship: disease_has_location UBERON:0001013 {source="EFO:0000784"} ! adipose tissue
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2726 {source="MONDO:mim2gene_medgen"} ! DDIT3

[Term]
id: MONDO:0013281
name: COG4-congenital disorder of glycosylation
def: "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." [Orphanet:263501]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263501"}
subset: orphanet_rare {source="Orphanet:263501"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT [Orphanet:263501]
synonym: "CDG IIj" RELATED [OMIM:613489]
synonym: "CDG syndrome type IIj" EXACT [Orphanet:263501]
synonym: "CDG-IIj" EXACT [Orphanet:263501]
synonym: "CDG2J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613489, Orphanet:263501]
synonym: "COG4-CDG" EXACT ABBREVIATION [Orphanet:263501]
synonym: "COG4-CDG (CDG-IIj)" RELATED [GARD:0012412]
synonym: "COG4-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "congenital disorder of glycosylation type 2j" EXACT [Orphanet:263501]
synonym: "congenital disorder of glycosylation type IIj" EXACT [Orphanet:263501]
synonym: "congenital disorder of glycosylation, type IIj" RELATED [MONDO:Lexical, OMIM:613489]
xref: DOID:0070262 {source="MONDO:equivalentTo"}
xref: GARD:12412 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:263501", source="Orphanet:263501/attributed", source="Orphanet:263501/ntbt"}
xref: MEDGEN:929221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613489 {source="MONDO:equivalentTo", source="Orphanet:263501", source="Orphanet:263501/e"}
xref: Orphanet:263501 {source="OMIM:613489", source="MONDO:equivalentTo"}
xref: SCTID:718751000 {source="MONDO:equivalentTo"}
xref: UMLS:C4303552 {source="MONDO:equivalentTo", source="MEDGEN:929221", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005501 {source="DC-OMIM:613489", source="OMIM:613489"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0017750 {source="Orphanet:263501"} ! defect in conserved oligomeric Golgi complex
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18620 {source="MONDO:mim2gene_medgen"} ! COG4

[Term]
id: MONDO:0013282
name: alpha 1-antitrypsin deficiency
def: "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." [Orphanet:60]
subset: gard_rare {source="GARD:5784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:754"}
subset: ordo_disorder {source="Orphanet:60"}
subset: orphanet_rare {source="Orphanet:60"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "A-1ATD" EXACT [NCIT:C84397]
synonym: "A1AD" EXACT ABBREVIATION [NCIT:C84397]
synonym: "A1AT deficiency" RELATED [GARD:0005784]
synonym: "A1ATD" RELATED ABBREVIATION [OMIM:613490]
synonym: "AAT deficiency" EXACT [DOID:13372]
synonym: "AATD" RELATED ABBREVIATION [GARD:0005784]
synonym: "Alpha 1 antitrypsin deficiency" RELATED [GARD:0005784]
synonym: "alpha 1-antitrypsin deficiency" EXACT CLINGEN_LABEL []
synonym: "Alpha-1 Antitrypsin Deficiency" EXACT [NORD:754]
synonym: "Alpha-1 antitrypsin deficiency" RELATED [GARD:0005784]
synonym: "ALPHA-1-antitrypsin deficiency" RELATED [OMIM:613490]
synonym: "alpha-1-antitrypsin deficiency" RELATED [OMIM:613490]
synonym: "deficiency in Alpa-1-proteinase inhibitor" EXACT [Orphanet:60]
synonym: "emphysema due to AAT deficiency" EXACT [OMIM:613490, OMIM:genemap2]
synonym: "emphysema-cirrhosis, due to AAT deficiency" EXACT [OMIM:613490, OMIM:genemap2]
synonym: "hemorrhagic diathesis due to antithrombin pittsburgh" EXACT [OMIM:613490, OMIM:genemap2]
xref: DOID:13372 {source="MONDO:equivalentTo"}
xref: GARD:5784 {source="MONDO:GARD"}
xref: ICD10CM:E88.0 {source="Orphanet:60/inclusion", source="Orphanet:60/ntbt", source="Orphanet:60"}
xref: ICD10CM:E88.01 {source="DOID:13372", source="MONDO:equivalentTo"}
xref: icd11.foundation:824872160 {source="MONDO:equivalentTo", source="Orphanet:60", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:273.4 {source="DOID:13372", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10001806 {source="Orphanet:60/e", source="Orphanet:60"}
xref: MEDGEN:67461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531610 {source="Orphanet:60/e", source="Orphanet:60"}
xref: MESH:D019896 {source="Orphanet:60/e", source="DOID:13372", source="MONDO:equivalentTo", source="Orphanet:60"}
xref: NANDO:1200755 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100174 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200611 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84397 {source="DOID:13372", source="MONDO:equivalentTo"}
xref: NORD:754 {source="MONDO:NORD"}
xref: OMIM:613490 {source="Orphanet:60/e", source="DOID:13372", source="MONDO:equivalentTo", source="Orphanet:60"}
xref: Orphanet:60 {source="MONDO:equivalentTo", source="OMIM:613490"}
xref: SCTID:154771007 {source="DOID:13372"}
xref: SCTID:30188007 {source="DOID:13372", source="MONDO:equivalentTo"}
xref: UMLS:C0221757 {source="MEDGEN:67461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84397"} ! syndromic disease
is_a: MONDO:0002273 {source="DOID:13372"} ! plasma protein metabolism disease
is_a: MONDO:0005066 {source="Orphanet:60"} ! metabolic disease
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:60"} ! respiratory system disorder
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:60", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115", source="MONDO:0015510"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8941 {source="MONDO:mim2gene_medgen"} ! SERPINA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency" xsd:anyURI {source="GARD:0005784"}

[Term]
id: MONDO:0013283
name: immunodeficiency, common variable, 3
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "antibody deficiency due to CD19 defect" RELATED [OMIM:613493]
synonym: "CVID3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613493]
synonym: "immunodeficiency, common variable, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613493]
synonym: "immunodeficiency, common variable, type 3" EXACT [MONDORULE:1, OMIM:613493]
xref: DOID:0081146 {source="MONDO:equivalentTo"}
xref: GARD:15668 {source="MONDO:GARD"}
xref: MEDGEN:462088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613493 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:613493"}
xref: UMLS:C3150738 {source="MEDGEN:462088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015517 {source="DC-OMIM:613493", source="OMIM:613493"} ! common variable immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1633 {source="MONDO:mim2gene_medgen"} ! CD19

[Term]
id: MONDO:0013284
name: immunodeficiency, common variable, 4
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antibody deficiency due to Baffr defect" RELATED [OMIM:613494]
synonym: "CVID4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613494]
synonym: "immunodeficiency, common variable, 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613494]
synonym: "immunodeficiency, common variable, type 4" EXACT [MONDORULE:1, OMIM:613494]
xref: DOID:0081147 {source="MONDO:equivalentTo"}
xref: GARD:15669 {source="MONDO:GARD"}
xref: MEDGEN:462089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613494 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:613494"}
xref: UMLS:C3150739 {source="MONDO:equivalentTo", source="MEDGEN:462089", source="MONDO:MEDGEN"}
is_a: MONDO:0015517 {source="DC-OMIM:613494", source="OMIM:613494"} ! common variable immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17755 {source="MONDO:mim2gene_medgen"} ! TNFRSF13C

[Term]
id: MONDO:0013285
name: immunodeficiency, common variable, 5
def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15670", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "antibody deficiency due to CD20 defect" RELATED [OMIM:613495]
synonym: "common variable immunodeficiency caused by mutation in MS4A1" EXACT [MONDO:design_pattern]
synonym: "CVID5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613495]
synonym: "immunodeficiency, common variable, 5" EXACT [MONDO:Lexical, OMIM:613495]
synonym: "immunodeficiency, common variable, type 5" EXACT [MONDORULE:1, OMIM:613495]
synonym: "MS4A1 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081148 {source="MONDO:equivalentTo"}
xref: GARD:15670 {source="MONDO:GARD"}
xref: MEDGEN:462090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613495 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:613495"}
xref: UMLS:C3150740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462090"}
is_a: MONDO:0015517 {source="DC-OMIM:613495", source="MONDO:Redundant", source="OMIM:613495"} ! common variable immunodeficiency
intersection_of: MONDO:0015517 ! common variable immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7315 ! MS4A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7315 {source="MONDO:mim2gene_medgen"} ! MS4A1

[Term]
id: MONDO:0013286
name: immunodeficiency, common variable, 6
def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antibody deficiency due to CD81 defect" RELATED [OMIM:613496]
synonym: "CD81 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "common variable immunodeficiency caused by mutation in CD81" EXACT [MONDO:design_pattern]
synonym: "CVID6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613496]
synonym: "immunodeficiency, common variable, 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613496]
synonym: "immunodeficiency, common variable, type 6" EXACT [MONDORULE:1, OMIM:613496]
xref: DOID:0081149 {source="MONDO:equivalentTo"}
xref: GARD:15671 {source="MONDO:GARD"}
xref: MEDGEN:462091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613496 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:613496"}
xref: UMLS:C3150741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462091"}
is_a: MONDO:0015517 {source="DC-OMIM:613496", source="MONDO:Redundant", source="OMIM:613496"} ! common variable immunodeficiency
intersection_of: MONDO:0015517 ! common variable immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1701 ! CD81
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1701 {source="MONDO:mim2gene_medgen"} ! CD81

[Term]
id: MONDO:0013287
name: agammaglobulinemia 2, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia 2, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613500]
synonym: "agammaglobulinemia, autosomal recessive, due to IGLL1 defect" EXACT [OMIM:613500]
synonym: "AGM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613500]
synonym: "autosomal agammaglobulinemia caused by mutation in IGLL1" EXACT [MONDO:design_pattern]
synonym: "IGLL1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "lambda 5 deficiency" EXACT [MONDO:0000581]
xref: DOID:0060024 {source="MONDO:equivalentTo"}
xref: DOID:0081135 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:15672 {source="MONDO:GARD"}
xref: MEDGEN:462100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613500 {source="MONDO:equivalentTo"}
xref: Orphanet:229717 {source="OMIM:613500"}
xref: Orphanet:33110 {source="OMIM:613500"}
xref: UMLS:C3150750 {source="MONDO:equivalentTo", source="MEDGEN:462100", source="MONDO:MEDGEN"}
is_a: MONDO:0002211 {source="DOID:0060024"} ! B cell deficiency
is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia
is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613500"} ! agammaglobulinemia
intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5870 ! IGLL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5870 {source="MONDO:mim2gene_medgen"} ! IGLL1

[Term]
id: MONDO:0013288
name: agammaglobulinemia 3, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15673", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia 3, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613501]
synonym: "agammaglobulinemia, autosomal recessive, due to Cd79A defect" RELATED [OMIM:613501]
synonym: "AGM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613501]
synonym: "autosomal agammaglobulinemia caused by mutation in CD79A" EXACT [MONDO:design_pattern]
synonym: "CD79A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081137 {source="MONDO:equivalentTo"}
xref: GARD:15673 {source="MONDO:GARD"}
xref: MEDGEN:462101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613501 {source="MONDO:equivalentTo"}
xref: Orphanet:229717 {source="OMIM:613501"}
xref: Orphanet:33110 {source="OMIM:613501"}
xref: UMLS:C3150751 {source="MEDGEN:462101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia
is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613501"} ! agammaglobulinemia
intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1698 ! CD79A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1698 {source="MONDO:mim2gene_medgen"} ! CD79A

[Term]
id: MONDO:0013289
name: agammaglobulinemia 4, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia 4" EXACT [OMIM:613502, OMIM:genemap2]
synonym: "agammaglobulinemia 4, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613502]
synonym: "agammaglobulinemia, autosomal recessive, due to Blnk defect" RELATED [OMIM:613502]
synonym: "AGM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613502]
synonym: "autosomal agammaglobulinemia caused by mutation in BLNK" EXACT [MONDO:design_pattern]
synonym: "BLNK autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15674 {source="MONDO:GARD"}
xref: MEDGEN:462102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613502 {source="MONDO:equivalentTo"}
xref: Orphanet:229717 {source="OMIM:613502"}
xref: Orphanet:33110 {source="OMIM:613502"}
xref: UMLS:C3150752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462102"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia
is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613502"} ! agammaglobulinemia
intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14211 ! BLNK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14211 {source="MONDO:mim2gene_medgen"} ! BLNK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013290
name: agammaglobulinemia 5, autosomal dominant
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia 5" EXACT [OMIM:613506, OMIM:genemap2]
synonym: "agammaglobulinemia 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613506]
synonym: "agammaglobulinemia, autosomal dominant, due to Lrrc8A defect" RELATED [OMIM:613506]
synonym: "AGM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613506]
synonym: "autosomal agammaglobulinemia caused by mutation in LRRC8A" EXACT [MONDO:design_pattern]
synonym: "LRRC8A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080588 {source="MONDO:equivalentTo"}
xref: GARD:15675 {source="MONDO:GARD"}
xref: MEDGEN:462103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613506 {source="MONDO:equivalentTo"}
xref: Orphanet:229717 {source="OMIM:613506"}
xref: Orphanet:33110 {source="OMIM:613506"}
xref: UMLS:C3150753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462103"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia
is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:613506"} ! agammaglobulinemia
intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19027 ! LRRC8A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19027 {source="MONDO:mim2gene_medgen"} ! LRRC8A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013291
name: glycogen storage disease XV
def: "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." [Orphanet:263297]
subset: gard_rare {source="GARD:17254", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263297"}
subset: orphanet_rare {source="Orphanet:263297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogen storage disease 15" RELATED [OMIM:613507]
synonym: "glycogen storage disease type 15" EXACT [MONDORULE:2, OMIM:613507, Orphanet:263297]
synonym: "glycogen storage disease type XV" EXACT [DOID:0050579, MONDORULE:3, Orphanet:263297]
synonym: "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" RELATED [Orphanet:263297]
synonym: "glycogen storage disease XV" EXACT [MONDO:Lexical, OMIM:613507]
synonym: "glycogenin deficiency" RELATED [OMIM:613507]
synonym: "glycogenosis type 15" EXACT [Orphanet:263297]
synonym: "glycogenosis type XV" EXACT [Orphanet:263297]
synonym: "glycogenosis with severe cardiomyopathy due to glycogenin deficiency" EXACT [Orphanet:263297]
synonym: "GSD 15" RELATED [OMIM:613507]
synonym: "GSD type 15" EXACT [Orphanet:263297]
synonym: "GSD type XV" EXACT [Orphanet:263297]
synonym: "GSD with severe cardiomyopathy due to glycogenin deficiency" EXACT [Orphanet:263297]
synonym: "GSD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613507]
synonym: "Gyg1 deficiency" RELATED [OMIM:613507]
xref: DOID:0050579 {source="MONDO:equivalentTo"}
xref: GARD:17254 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:263297", source="Orphanet:263297/attributed", source="Orphanet:263297/ntbt"}
xref: MEDGEN:462104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200837 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613507 {source="Orphanet:263297", source="DOID:0050579", source="MONDO:equivalentTo", source="Orphanet:263297/e"}
xref: Orphanet:263297 {source="MONDO:equivalentTo", source="OMIM:613507"}
xref: SCTID:717821004 {source="MONDO:equivalentTo"}
xref: UMLS:C3150754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462104"}
is_a: MONDO:0002412 {source="DC-OMIM:613507", source="DOID:0050579", source="DOID:0050579/inferred", source="OMIM:613507", source="Orphanet:263297", source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0100314 {source="https://clinicalgenome.org/affiliation/40097/"} ! GYG1-related disorder of glycogen metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4699 {source="MONDO:mim2gene_medgen"} ! GYG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6130" xsd:anyURI

[Term]
id: MONDO:0013292
name: chromosome 4q21 deletion syndrome
def: "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." [Orphanet:238750]
subset: gard_rare {source="GARD:17181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238750"}
subset: ordo_malformation_syndrome {source="Orphanet:238750"}
subset: orphanet_rare {source="Orphanet:238750"}
subset: rare
synonym: "4q21 microdeletion syndrome" EXACT [DOID:0060420]
synonym: "chromosome 4q21 deletion syndrome" EXACT [OMIM:613509]
synonym: "chromosome 4q21 deletion syndrome, isolated cases" EXACT [OMIM:613509, OMIM:genemap2]
synonym: "Del(4)(q21)" EXACT [Orphanet:238750]
synonym: "monosomy 4q21" EXACT [DOID:0060420, Orphanet:238750]
xref: DOID:0060420 {source="MONDO:equivalentTo"}
xref: GARD:17181 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:238750/attributed", source="Orphanet:238750/ntbt", source="Orphanet:238750"}
xref: MEDGEN:462106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613509 {source="DOID:0060420", source="Orphanet:238750/e", source="MONDO:equivalentTo", source="Orphanet:238750"}
xref: Orphanet:238750 {source="DOID:0060420", source="MONDO:equivalentTo", source="OMIM:613509"}
xref: SCTID:719660008 {source="MONDO:equivalentTo"}
xref: UMLS:C3150756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462106"}
is_a: MONDO:0000761 {source="DC-OMIM:613509", source="DOID:0060420"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016903 {source="Orphanet:238750"} ! partial deletion of the long arm of chromosome 4
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr4q21 ! 4q21 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013293
name: isolated microphthalmia 6
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18628", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "isolated microphthalmia caused by mutation in PRSS56" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 6" EXACT [DOID:0060835, MONDORULE:1]
synonym: "MCOP6" EXACT ABBREVIATION [DOID:0060835, MONDO:Lexical, OMIM:613517]
synonym: "microphthalmia, isolated 6" RELATED [MONDO:Lexical, OMIM:613517]
synonym: "microphthalmia, isolated type 6" EXACT [MONDORULE:1, OMIM:613517]
synonym: "microphthalmia, posterior nonsyndromic" RELATED [OMIM:613517]
synonym: "posterior nonsyndromic microphthalmia" EXACT [DOID:0060835]
synonym: "PRSS56 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060835 {source="MONDO:equivalentTo"}
xref: GARD:18628 {source="MONDO:GARD"}
xref: ICD10CM:Q11.0 {source="DOID:0060835"}
xref: MEDGEN:462107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613517 {source="MONDO:equivalentTo", source="DOID:0060835"}
xref: Orphanet:2542 {source="DOID:0060835", source="OMIM:613517"}
xref: UMLS:C3150757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462107"}
is_a: MONDO:0000062 {source="DC-OMIM:613517", source="MONDO:Redundant", source="OMIM:613517"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39433 ! PRSS56
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39433 {source="MONDO:mim2gene_medgen"} ! PRSS56

[Term]
id: MONDO:0013294
name: dermatitis, atopic, 8
def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1." [DOID:0110104, MONDO:patterns/inherited_susceptibility, PMID:19517137]
synonym: "ATOD8" EXACT ABBREVIATION [DOID:0110104, MONDO:Lexical, OMIM:613518]
synonym: "atopic dermatitis type 8" EXACT [DOID:0110104, MONDORULE:1]
synonym: "dermatitis, atopic, 8" EXACT [MONDO:Lexical, OMIM:613518]
synonym: "dermatitis, atopic, severity of" RELATED [OMIM:613518]
synonym: "dermatitis, atopic, susceptibility to, 8" EXACT [OMIM:613518, OMIM:genemap2]
xref: DOID:0110104 {source="MONDO:equivalentTo"}
xref: MEDGEN:462113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613518 {source="DOID:0110104", source="MONDO:equivalentTo"}
xref: UMLS:C3150763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462113"}
is_a: MONDO:0100178 {source="OMIM:613518"} ! dermatitis, atopic, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:613518", source="DOID:0110104", source="OMIM:613518", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013295
name: dermatitis, atopic, 9
def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24." [DOID:0110105, MONDO:patterns/inherited_susceptibility, PMID:19517137]
synonym: "ATOD9" EXACT ABBREVIATION [DOID:0110105, MONDO:Lexical, OMIM:613519]
synonym: "atopic dermatitis 9" EXACT []
synonym: "atopic dermatitis type 9" EXACT [DOID:0110105, MONDORULE:1]
synonym: "dermatitis, ATOPIC, 9" RELATED [MONDO:Lexical, OMIM:613519]
synonym: "dermatitis, atopic, susceptibility to, 9" EXACT [OMIM:613519, OMIM:genemap2]
xref: DOID:0110105 {source="MONDO:equivalentTo"}
xref: MEDGEN:462114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613519 {source="DOID:0110105", source="MONDO:equivalentTo"}
xref: UMLS:C3150764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462114"}
is_a: MONDO:0100178 {source="OMIM:613519"} ! dermatitis, atopic, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0004980 {source="DC-OMIM:613519", source="DOID:0110105", source="OMIM:613519", source="https://orcid.org/0000-0001-5208-3432"} ! atopic eczema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013296
name: myeloid neoplasm associated with FGFR1 rearrangement
def: "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype." [NCIT:C84277]
subset: gard_rare {source="GARD:17043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168953"}
subset: orphanet_rare {source="Orphanet:168953"}
subset: rare
synonym: "8p11 myeloproliferative syndrome" EXACT [NCIT:C84277, Orphanet:168953]
synonym: "8p11 stem cell leukemia/lymphoma syndrome" EXACT [NCIT:C84277]
synonym: "8p11 stem cell lymphoma/leukemia syndrome" EXACT [NCIT:C84277]
synonym: "8p11 stem cell syndrome" EXACT [NCIT:C84277]
synonym: "chromosome 8p11 myeloproliferative syndrome" RELATED [OMIM:613523]
synonym: "myeloid and lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C84277]
synonym: "myeloid/lymphoid neoplasm associated with FGFR1 rearrangement" RELATED [Orphanet:168953]
synonym: "myeloid/lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C84277]
synonym: "stem cell leukemia/lymphoma" EXACT [OMIM:613523, Orphanet:168953]
xref: GARD:17043 {source="MONDO:GARD"}
xref: ICD10CM:D47.1 {source="Orphanet:168953", source="Orphanet:168953/ntbt"}
xref: icd11.foundation:2019647878 {source="MONDO:equivalentTo", source="Orphanet:168953", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9967/3 {source="NCIT:C84277"}
xref: MEDGEN:462123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84277 {source="MONDO:equivalentTo"}
xref: OMIM:613523 {source="MONDO:equivalentTo", source="Orphanet:168953", source="Orphanet:168953/e"}
xref: ONCOTREE:MLNFGFR1 {source="MONDO:equivalentTo"}
xref: Orphanet:168953 {source="OMIM:613523", source="MONDO:equivalentTo"}
xref: UMLS:C3150773 {source="MEDGEN:462123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015688 {source="NCIT:C84277", source="Orphanet:168953"} ! myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

[Term]
id: MONDO:0013297
name: autosomal dominant limb-girdle muscular dystrophy type 1H
def: "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." [Orphanet:238755]
subset: gard_rare {source="GARD:12532", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LGMD1H" EXACT ABBREVIATION [DOID:0110303, MONDO:Lexical, OMIM:613530, Orphanet:238755]
synonym: "limb-girdle muscular dystrophy type 1H" RELATED [GARD:0012532]
synonym: "muscular dystrophy limb-girdle type 1H" EXACT [DOID:0110303]
synonym: "muscular dystrophy, limb-girdle, type 1H" RELATED [MONDO:Lexical, OMIM:613530]
xref: DOID:0110303 {source="MONDO:equivalentTo"}
xref: GARD:12532 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0110303", source="Orphanet:238755/attributed", source="Orphanet:238755/ntbt", source="Orphanet:238755"}
xref: MEDGEN:462136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613530 {source="DOID:0110303", source="Orphanet:238755", source="MONDO:equivalentTo", source="Orphanet:238755/e"}
xref: Orphanet:238755 {source="DOID:0110303", source="OMIM:613530", source="MONDO:equivalentTo"}
xref: UMLS:C3150786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462136"}
is_a: MONDO:0015151 {source="DOID:0110303", source="OMIM:613530", source="Orphanet:238755"} ! muscular dystrophy, limb-girdle, autosomal dominant

[Term]
id: MONDO:0013298
name: chromosome 17q21.31 duplication syndrome
def: "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." [Orphanet:217340]
subset: gard_rare {source="GARD:17121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217340"}
subset: ordo_malformation_syndrome {source="Orphanet:217340"}
subset: orphanet_rare {source="Orphanet:217340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17q21.31 microduplication syndrome" EXACT [DOID:0060434, Orphanet:217340]
synonym: "chromosome 17q21.31 duplication syndrome" EXACT [OMIM:613533]
synonym: "dup(17)(q21.31)" EXACT [Orphanet:217340]
synonym: "trisomy 17q21.31" EXACT [DOID:0060434, Orphanet:217340]
xref: DOID:0060434 {source="MONDO:equivalentTo"}
xref: GARD:17121 {source="MONDO:GARD"}
xref: MEDGEN:901723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613533 {source="MONDO:equivalentTo", source="DOID:0060434", source="Orphanet:217340", source="Orphanet:217340/e"}
xref: Orphanet:217340 {source="OMIM:613533", source="MONDO:equivalentTo", source="DOID:0060434"}
xref: SCTID:716683005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274345 {source="MEDGEN:901723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DC-OMIM:613533", source="DOID:0060434"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0015159 {source="Orphanet:217340"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016967 {source="Orphanet:217340"} ! partial duplication of the long arm of chromosome 17
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr17q21.31 ! 17q21.31 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:217340", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013299
name: chromosome 6q11-q14 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 6q11-q14 deletion syndrome" EXACT [OMIM:613544]
synonym: "chromosome 6q11-q14 deletion syndrome, isolated cases" EXACT [OMIM:613544, OMIM:genemap2]
synonym: "chromosome 6Q13-q14 deletion syndrome" RELATED [OMIM:613544]
xref: DOID:0060423 {source="MONDO:equivalentTo"}
xref: MEDGEN:462140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613544 {source="MONDO:equivalentTo", source="DOID:0060423"}
xref: UMLS:C3150790 {source="MEDGEN:462140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613544", source="DOID:0060423"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016905 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 6
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr6q11-q14 ! 6q11-q14 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013300
name: commissural facial cleft
def: "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" [MESH:D008265]
subset: gard_rare {source="GARD:16975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141276"}
subset: ordo_morphological_anomaly {source="Orphanet:141276"}
subset: orphanet_rare {source="Orphanet:141276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "commissural cleft, isolated" RELATED [OMIM:613545]
synonym: "lateral cleft, isolated" RELATED [OMIM:613545]
synonym: "macrostomia" EXACT [Orphanet:141276]
synonym: "macrostomia, isolated" RELATED [OMIM:613545]
synonym: "transverse cleft, isolated" RELATED [OMIM:613545]
xref: GARD:16975 {source="MONDO:GARD"}
xref: ICD10CM:Q18.4 {source="Orphanet:141276/attributed", source="Orphanet:141276/ntbt", source="Orphanet:141276"}
xref: ICD9:744.83 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:462142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008265 {source="MONDO:equivalentTo"}
xref: OMIM:613545 {source="Orphanet:141276", source="MONDO:equivalentTo", source="Orphanet:141276/e"}
xref: Orphanet:141276 {source="OMIM:613545", source="MONDO:equivalentTo"}
xref: SCTID:40159009 {source="MONDO:equivalentTo"}
xref: UMLS:C3150792 {source="MEDGEN:462142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015411 {source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0013301
name: aromatase deficiency
def: "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." [Orphanet:91]
subset: gard_rare {source="GARD:365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91"}
subset: orphanet_rare {source="Orphanet:91"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aromatase deficiency" EXACT [OMIM:613546]
synonym: "congenital estrogen deficiency" EXACT [Orphanet:91]
synonym: "congenital oestrogen deficiency" EXACT OMO:0003005 []
synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [OMIM:613546]
xref: GARD:365 {source="MONDO:GARD"}
xref: ICD10CM:E25.8 {source="Orphanet:91/attributed", source="Orphanet:91/ntbt", source="Orphanet:91"}
xref: MEDGEN:743307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537436 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"}
xref: NCIT:C120144 {source="MONDO:equivalentTo"}
xref: OMIM:613546 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"}
xref: Orphanet:91 {source="MONDO:equivalentTo", source="OMIM:613546"}
xref: UMLS:C1960539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743307"}
is_a: MONDO:0019852 {source="Orphanet:91"} ! inherited primary ovarian failure
is_a: MONDO:0024575 {source="Orphanet:91"} ! pregnancy disorder
relationship: excluded_subClassOf MONDO:0957024 {source="Orphanet:91", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary 46,XX disorder of sex development
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2594 {source="MONDO:mim2gene_medgen"} ! CYP19A1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency" xsd:anyURI {source="GARD:0000365"}

[Term]
id: MONDO:0013302
name: nephronophthisis 11
def: "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1." [DOID:0111118, PMID:19508969]
subset: gard_rare {source="GARD:18080", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nephronophthisis 11" EXACT [MONDO:Lexical, OMIM:613550]
synonym: "nephronophthisis type 11" EXACT [DOID:0111118, MONDORULE:2, OMIM:613550]
synonym: "NPHP11" EXACT ABBREVIATION [DOID:0111118, MONDO:Lexical, OMIM:613550]
xref: DOID:0111118 {source="MONDO:equivalentTo"}
xref: GARD:18080 {source="MONDO:GARD"}
xref: MEDGEN:462146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613550 {source="DOID:0111118", source="MONDO:equivalentTo"}
xref: Orphanet:84081 {source="OMIM:613550"}
xref: UMLS:C3150796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462146"}
is_a: MONDO:0019005 {source="DC-OMIM:613550", source="DOID:0111118", source="MONDO:Redundant", source="OMIM:613550"} ! nephronophthisis
is_a: MONDO:0019394 {source="MONDO:Redundant", source="Orphanet:84081/btnt"} ! Senior-Boichis syndrome
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: MONDO:0019394 ! Senior-Boichis syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 ! TMEM67
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613550"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 {source="MONDO:mim2gene_medgen"} ! TMEM67

[Term]
id: MONDO:0013303
name: autoimmune disease, susceptibility to, 6
def: "Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "AIS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613551]
synonym: "autoimmune disease caused by mutation in SIAE" EXACT [MONDO:design_pattern]
synonym: "autoimmune disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613551]
synonym: "autoimmune disease, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:613551]
synonym: "SIAE autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to autoimmune disease 6" RELATED [OMIM:613551]
xref: MEDGEN:462147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613551 {source="MONDO:equivalentTo"}
xref: UMLS:C3150797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462147"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18187 ! SIAE
intersection_of: predisposes_towards MONDO:0007179 ! autoimmune disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18187 {source="MONDO:mim2gene_medgen"} ! SIAE

[Term]
id: MONDO:0013304
name: von Willebrand disease 2
def: "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." [Orphanet:166081]
subset: gard_rare {source="GARD:17020", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166081"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "von Willebrand disease 2" EXACT CLINGEN_LABEL []
synonym: "von Willebrand disease type 2" EXACT [DOID:0060574]
synonym: "von Willebrand disease type II" EXACT [DOID:0060574]
synonym: "VON WILLEBRAND disease, type 2" RELATED [MONDO:Lexical, OMIM:613554]
synonym: "Von Willebrand disease, type 2" RELATED [OMIM:613554]
synonym: "Von Willebrand disease, type 2A" RELATED [OMIM:613554]
synonym: "Von Willebrand disease, type 2B" RELATED [OMIM:613554]
synonym: "Von Willebrand disease, type 2M" RELATED [OMIM:613554]
synonym: "Von Willebrand disease, type 2N" RELATED [OMIM:613554]
synonym: "von Willebrand disease, types 2A, 2B, 2M, and 2N" EXACT [OMIM:613554, OMIM:genemap2]
synonym: "von willebrand's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "von Willebrand's disease type 2" EXACT [DOID:0060574, MONDORULE:1]
synonym: "VWD type 2" EXACT [DOID:0060574]
synonym: "VWD, type 2" RELATED [OMIM:613554]
synonym: "VWD2" EXACT ABBREVIATION [DOID:0060574, MONDO:Lexical, OMIM:613554]
xref: DOID:0060574 {source="MONDO:equivalentTo"}
xref: GARD:17020 {source="MONDO:GARD"}
xref: ICD10CM:D68.0 {source="Orphanet:166081/attributed", source="Orphanet:166081/ntbt", source="Orphanet:166081"}
xref: MEDGEN:224736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056728 {source="Orphanet:166081/e", source="DOID:0060574", source="MONDO:equivalentTo", source="Orphanet:166081"}
xref: OMIM:613554 {source="Orphanet:166081/e", source="DOID:0060574", source="MONDO:equivalentTo", source="Orphanet:166081"}
xref: Orphanet:166081 {source="DOID:0060574", source="OMIM:613554", source="MONDO:equivalentTo"}
xref: Orphanet:166084 {source="OMIM:613554"}
xref: Orphanet:166087 {source="OMIM:613554"}
xref: Orphanet:166090 {source="OMIM:613554"}
xref: Orphanet:166093 {source="OMIM:613554"}
xref: Orphanet:903 {source="OMIM:613554"}
xref: SCTID:128107007 {source="MONDO:equivalentTo"}
xref: UMLS:C1264040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224736"}
is_a: MONDO:0019565 {source="DC-OMIM:613554", source="DOID:0060574", source="Orphanet:166081"} ! hereditary von Willebrand disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12726 {source="MONDO:mim2gene_medgen"} ! VWF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013305
name: autosomal dominant nonsyndromic hearing loss 51
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes." [DOID:0110577, PMID:20602916]
subset: gard_rare {source="GARD:18133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 51" NARROW [DOID:0110577]
synonym: "autosomal dominant nonsyndromic deafness 51" NARROW [OMIM:613558]
synonym: "autosomal dominant nonsyndromic deafness type 51" NARROW [DOID:0110577, MONDORULE:2]
synonym: "chromosome 9Q21.11 Duplication syndrome" NARROW [OMIM:613558]
synonym: "chromosome 9q21.11 duplication syndrome" EXACT [DOID:0110577]
synonym: "deafness, autosomal dominant 51" NARROW [MONDO:Lexical, OMIM:613558, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 51" NARROW [MONDORULE:2, OMIM:613558]
synonym: "DFNA51" NARROW ABBREVIATION [DOID:0110577, MONDO:Lexical, OMIM:613558]
xref: DOID:0110577 {source="MONDO:equivalentTo"}
xref: GARD:18133 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110577"}
xref: MEDGEN:463625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613558 {source="DOID:0110577", source="MONDO:equivalentTo"}
xref: UMLS:C3160736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463625"}
is_a: MONDO:0019587 {source="DC-OMIM:613558", source="DOID:0110577", source="OMIM:613558"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013306
name: combined oxidative phosphorylation defect type 7
def: "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." [Orphanet:254930]
subset: gard_rare {source="GARD:17234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254930"}
subset: orphanet_rare {source="Orphanet:254930"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C12ORF65 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern]
synonym: "C12orf65 combined oxidative phosphorylation deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "combined oxidative phosphorylation deficiency 7" RELATED [MONDO:Lexical, OMIM:613559]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12ORF65" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12orf65" EXACT []
synonym: "combined oxidative phosphorylation deficiency type 7" EXACT [MONDORULE:1, OMIM:613559]
synonym: "COXPD7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613559, Orphanet:254930]
synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [Orphanet:254930]
synonym: "severe C12ORF65-related COXPD" EXACT [Orphanet:254930]
xref: DOID:0111487 {source="MONDO:equivalentTo"}
xref: GARD:17234 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:254930", source="Orphanet:254930/attributed", source="Orphanet:254930/ntbt"}
xref: MEDGEN:462151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613559 {source="MONDO:equivalentTo", source="Orphanet:254930", source="Orphanet:254930/e"}
xref: Orphanet:254930 {source="MONDO:equivalentTo", source="OMIM:613559"}
xref: SCTID:763204003 {source="MONDO:equivalentTo"}
xref: UMLS:C3150801 {source="MEDGEN:462151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:613559", source="MONDO:Redundant", source="OMIM:613559"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26784 {source="MONDO:mim2gene_medgen"} ! MTRFR

[Term]
id: MONDO:0013307
name: myopathy, lactic acidosis, and sideroblastic anemia 2
def: "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2" EXACT OMO:0003005 []
synonym: "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2" EXACT [MONDO:design_pattern]
synonym: "MLASA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613561]
synonym: "myopathy, lactic acidosis, and sideroblastic Anaemia type 2" EXACT OMO:0003005 []
synonym: "myopathy, lactic acidosis, and sideroblastic anemia 2" EXACT [MONDO:Lexical, OMIM:613561]
synonym: "myopathy, lactic acidosis, and sideroblastic Anemia type 2" EXACT [MONDORULE:1, OMIM:613561]
synonym: "YARS2 mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "YARS2 mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111186 {source="MONDO:equivalentTo"}
xref: GARD:15676 {source="MONDO:GARD"}
xref: MEDGEN:462152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613561 {source="MONDO:equivalentTo"}
xref: Orphanet:2598 {source="OMIM:613561"}
xref: UMLS:C3150802 {source="MEDGEN:462152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000863 {source="MONDO:Redundant", source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia
intersection_of: MONDO:0000863 ! myopathy, lactic acidosis, and sideroblastic anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24249 ! YARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24249 {source="MONDO:mim2gene_medgen"} ! YARS2

[Term]
id: MONDO:0013308
name: CBL-related disorder
def: "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL." [PMID:20619386, PMID:21901340, PMID:24458550, PMID:25283271, PMID:25358541, PMID:25952305, PMID:26911351, PMID:28343148, PMID:28414188, PMID:28589114, PMID:29259247]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363972"}
subset: ordo_malformation_syndrome {source="Orphanet:363972"}
subset: orphanet_rare {source="Orphanet:363972"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cbl mutation-associated syndrome" RELATED [OMIM:613563]
synonym: "Cbl syndrome" EXACT [OMIM:613563, Orphanet:363972]
synonym: "CBL-related disorder" EXACT CLINGEN_LABEL []
synonym: "Noonan syndrome-like disorder with JMML" EXACT [Orphanet:363972]
synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia" EXACT OMO:0003005 []
synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" EXACT []
synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia" RELATED OMO:0003005 []
synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" RELATED [MONDO:Lexical, OMIM:613563]
synonym: "Noonan-like syndrome" EXACT []
synonym: "NSLL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613563]
xref: GARD:17577 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:363972", source="Orphanet:363972/attributed", source="Orphanet:363972/ntbt"}
xref: MEDGEN:462153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613563 {source="MONDO:equivalentTo", source="Orphanet:363972", source="Orphanet:363972/e"}
xref: Orphanet:363972 {source="OMIM:613563", source="MONDO:equivalentTo"}
xref: UMLS:C3150803 {source="MEDGEN:462153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021060 {source="https://www.clinicalgenome.org/affiliation/40021/"} ! RASopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1541 {source="MONDO:mim2gene_medgen"} ! CBL

[Term]
id: MONDO:0013309
name: chromosome 2p12-p11.2 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 2p12-p11.2 deletion syndrome" EXACT [OMIM:613564]
xref: DOID:0060414 {source="MONDO:equivalentTo"}
xref: MEDGEN:462154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613564 {source="MONDO:equivalentTo", source="DOID:0060414"}
xref: UMLS:C3150804 {source="MEDGEN:462154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613564", source="DOID:0060414"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016884 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2p12-p11.2 ! 2p12-p11.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0013310
name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
def: "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." [Orphanet:95699]
subset: gard_rare {source="GARD:12664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95699"}
subset: orphanet_rare {source="Orphanet:95699"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571]
synonym: "congenital adrenal hyperplasia due to cytochrome POR deficiency" EXACT [Orphanet:95699]
synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase" RELATED [GARD:0012664]
synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571]
synonym: "disordered steroidogenesis due to POR deficiency" RELATED [OMIM:613571]
synonym: "POR deficiency" EXACT [Orphanet:95699]
synonym: "PORD" EXACT ABBREVIATION [Orphanet:95699]
xref: DOID:0080925 {source="MONDO:equivalentTo"}
xref: GARD:12664 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:95699", source="Orphanet:95699/attributed", source="Orphanet:95699/ntbt"}
xref: MEDGEN:348008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200402 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200375 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C174439 {source="MONDO:equivalentTo"}
xref: OMIM:613571 {source="MONDO:equivalentTo", source="Orphanet:95699", source="Orphanet:95699/e"}
xref: Orphanet:418 {source="OMIM:613571"}
xref: Orphanet:95699 {source="MONDO:equivalentTo", source="OMIM:613571"}
xref: SCTID:715733000 {source="MONDO:equivalentTo"}
xref: UMLS:C1860042 {source="MONDO:equivalentTo", source="MEDGEN:348008", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0018479 {source="Orphanet:95699"} ! congenital adrenal hyperplasia
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9208 {source="MONDO:mim2gene_medgen"} ! POR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency" xsd:anyURI {source="GARD:0012664"}

[Term]
id: MONDO:0013311
name: ectodermal dysplasia-syndactyly syndrome
def: "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." [Orphanet:247820]
subset: gard_rare {source="GARD:17198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247820"}
subset: ordo_malformation_syndrome {source="Orphanet:247820"}
subset: orphanet_rare {source="Orphanet:247820"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "ectodermal dysplasia-syndactyly syndrome 1" RELATED [MONDO:Lexical, OMIM:613573]
synonym: "ectodermal dysplasia-syndactyly syndrome type 1" EXACT [MONDORULE:1, OMIM:613573]
synonym: "EDSS" EXACT ABBREVIATION [Orphanet:247820]
synonym: "EDSS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613573, Orphanet:247820]
xref: GARD:17198 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:247820", source="Orphanet:247820/attributed", source="Orphanet:247820/ntbt"}
xref: MEDGEN:1648397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:613573 {source="MONDO:equivalentTo"}
xref: Orphanet:247820 {source="OMIM:613573", source="MONDO:equivalentTo"}
xref: UMLS:C4749852 {source="MEDGEN:1648397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="OMIM:613573", source="Orphanet:247820"} ! ectodermal dysplasia syndrome
relationship: disease_has_major_feature HP:0001159 ! Syndactyly
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613573"} ! inherited

[Term]
id: MONDO:0013312
name: retinitis pigmentosa 55
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARL6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 55" EXACT [MONDO:Lexical, OMIM:613575]
synonym: "retinitis pigmentosa caused by mutation in ARL6" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 55" EXACT [DOID:0110370, MONDORULE:2, OMIM:613575]
synonym: "RP55" EXACT ABBREVIATION [DOID:0110370, MONDO:Lexical, OMIM:613575]
xref: DOID:0110370 {source="MONDO:equivalentTo"}
xref: GARD:15677 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110370"}
xref: MEDGEN:462158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613575 {source="DOID:0110370", source="MONDO:equivalentTo"}
xref: UMLS:C3150808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462158"}
is_a: MONDO:0019200 {source="DC-OMIM:613575", source="DOID:0110370", source="MONDO:Redundant", source="OMIM:613575"} ! retinitis pigmentosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13210 {source="MONDO:mim2gene_medgen"} ! ARL6

[Term]
id: MONDO:0013313
name: ectodermal dysplasia-cutaneous syndactyly syndrome
subset: gard_rare {source="GARD:17199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247827"}
subset: ordo_malformation_syndrome {source="Orphanet:247827"}
subset: orphanet_rare {source="Orphanet:247827"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia-syndactyly syndrome 2" RELATED [MONDO:Lexical, OMIM:613576]
synonym: "EDCS" EXACT ABBREVIATION [Orphanet:247827]
synonym: "EDSS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613576, Orphanet:247827]
xref: GARD:17199 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:247827/attributed", source="Orphanet:247827/ntbt", source="Orphanet:247827"}
xref: MEDGEN:462159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613576 {source="Orphanet:247827/e", source="MONDO:equivalentTo", source="Orphanet:247827"}
xref: Orphanet:247827 {source="OMIM:613576", source="MONDO:equivalentTo"}
xref: UMLS:C3150809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462159"}
is_a: MONDO:0013311 {source="DC-OMIM:613576", source="OMIM:613576"} ! ectodermal dysplasia-syndactyly syndrome

[Term]
id: MONDO:0013314
name: retinitis pigmentosa 56
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IMPG2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "maculopathy, Impg2-related" RELATED [OMIM:613581]
synonym: "retinitis pigmentosa 56" EXACT [MONDO:Lexical, OMIM:613581]
synonym: "retinitis pigmentosa caused by mutation in IMPG2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 56" EXACT [DOID:0110371, MONDORULE:2, OMIM:613581]
synonym: "RP56" EXACT ABBREVIATION [DOID:0110371, MONDO:Lexical, OMIM:613581]
xref: DOID:0110371 {source="MONDO:equivalentTo"}
xref: GARD:15678 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110371"}
xref: MEDGEN:462169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613581 {source="MONDO:equivalentTo", source="DOID:0110371"}
xref: Orphanet:791 {source="OMIM:613581"}
xref: UMLS:C3150819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462169"}
is_a: MONDO:0019200 {source="DC-OMIM:613581", source="DOID:0110371", source="MONDO:Redundant", source="OMIM:613581"} ! retinitis pigmentosa
is_a: MONDO:0700241 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2-related recessive retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 ! IMPG2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="MONDO:mim2gene_medgen"} ! IMPG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0013315
name: retinitis pigmentosa 57
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15679", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PDE6G retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 57" EXACT [MONDO:Lexical, OMIM:613582]
synonym: "retinitis pigmentosa caused by mutation in PDE6G" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 57" EXACT [DOID:0110407, MONDORULE:2, OMIM:613582]
synonym: "RP57" EXACT ABBREVIATION [DOID:0110407, MONDO:Lexical, OMIM:613582]
xref: DOID:0110407 {source="MONDO:equivalentTo"}
xref: GARD:15679 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110407"}
xref: MEDGEN:462171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613582 {source="MONDO:equivalentTo", source="DOID:0110407"}
xref: Orphanet:791 {source="OMIM:613582"}
xref: UMLS:C3150821 {source="MEDGEN:462171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:613582", source="DOID:0110407", source="MONDO:Redundant", source="OMIM:613582"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8789 ! PDE6G
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8789 {source="MONDO:mim2gene_medgen"} ! PDE6G

[Term]
id: MONDO:0013316
name: occult macular dystrophy
def: "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms." [Orphanet:247834]
subset: gard_rare {source="GARD:17200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247834"}
subset: orphanet_rare {source="Orphanet:247834"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "occult macular dystrophy" EXACT [MONDO:Lexical, OMIM:613587]
synonym: "OCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613587, Orphanet:247834]
synonym: "OMD" EXACT ABBREVIATION [Orphanet:247834]
synonym: "Omd" RELATED [OMIM:613587]
xref: DOID:0050578 {source="MONDO:equivalentTo"}
xref: GARD:17200 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:247834", source="Orphanet:247834/attributed", source="Orphanet:247834/ntbt"}
xref: MEDGEN:462183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200934 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613587 {source="MONDO:equivalentTo", source="DOID:0050578", source="Orphanet:247834", source="Orphanet:247834/e"}
xref: Orphanet:247834 {source="OMIM:613587", source="MONDO:equivalentTo"}
xref: UMLS:C3150833 {source="MEDGEN:462183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003004 {source="DOID:0050578", source="OMIM:613587"} ! macular degeneration
is_a: MONDO:0020242 {source="Orphanet:247834"} ! hereditary macular dystrophy
relationship: disease_has_feature HP:0000572 ! Visual loss
relationship: disease_has_feature HP:0000608 ! Macular degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15946 {source="MONDO:mim2gene_medgen"} ! RP1L1

[Term]
id: MONDO:0013317
name: torsade-de-pointes syndrome with short coupling interval
def: "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." [Orphanet:51084]
subset: gard_rare {source="GARD:16651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:51084"}
subset: orphanet_rare {source="Orphanet:51084"}
subset: rare
synonym: "torsade DE pointes, short-coupled variant" RELATED [OMIM:613600]
xref: GARD:16651 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="Orphanet:51084/attributed", source="Orphanet:51084/ntbt", source="Orphanet:51084"}
xref: MEDGEN:462201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613600 {source="Orphanet:51084/e", source="MONDO:equivalentTo", source="Orphanet:51084"}
xref: Orphanet:51084 {source="OMIM:613600", source="MONDO:equivalentTo"}
xref: SCTID:718104007 {source="MONDO:equivalentTo"}
xref: UMLS:C3150851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462201"}
is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease

[Term]
id: MONDO:0013318
name: early repolarization associated with ventricular fibrillation
synonym: "early repolarization associated with ventricular fibrillation" EXACT [OMIM:613601]
synonym: "early repolarization syndrome" RELATED [OMIM:613601]
xref: MEDGEN:462202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613601 {source="MONDO:equivalentTo"}
xref: UMLS:C3150852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462202"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013319
name: chromosome 4Q32.1-q32.2 triplication syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 4Q32.1-q32.2 triplication syndrome" EXACT [OMIM:613603]
xref: MEDGEN:462207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613603 {source="MONDO:equivalentTo"}
xref: UMLS:C3150857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462207"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016955 {source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of the long arm of chromosome 4

[Term]
id: MONDO:0013320
name: chromosome 16p12.2-p11.2 deletion syndrome
def: "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." [Orphanet:261211]
subset: gard_rare {source="GARD:17243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261211"}
subset: ordo_malformation_syndrome {source="Orphanet:261211"}
subset: orphanet_rare {source="Orphanet:261211"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [DECIPHER:68, DOID:0060400, Orphanet:261211]
synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [DOID:0060400]
synonym: "chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB" RELATED [OMIM:613604]
synonym: "chromosome 16p12.2-p11.2 deletion syndrome, isolated cases" EXACT [OMIM:613604, OMIM:genemap2]
synonym: "Del(16)(p11.2p12.2)" EXACT [Orphanet:261211]
synonym: "monosomy 16p11.2-p12.2" EXACT [Orphanet:261211]
synonym: "monosomy 16p11.2p12.2" EXACT [Orphanet:261211]
xref: DECIPHER:68 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: DOID:0060400 {source="MONDO:equivalentTo"}
xref: GARD:17243 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="DOID:0060400", source="Orphanet:261211", source="Orphanet:261211/attributed", source="Orphanet:261211/ntbt"}
xref: MEDGEN:462208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613604 {source="DOID:0060400", source="MONDO:equivalentTo", source="Orphanet:261211", source="Orphanet:261211/e"}
xref: Orphanet:261211 {source="DOID:0060400", source="MONDO:equivalentTo", source="OMIM:613604"}
xref: SCTID:719576009 {source="MONDO:equivalentTo"}
xref: UMLS:C3150858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462208"}
is_a: MONDO:0000761 {source="DC-OMIM:613604", source="DOID:0060400"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016894 {source="Orphanet:261211"} ! partial deletion of the short arm of chromosome 16
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16p12.2-p11.2 ! 16p12.2-p11.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6311" xsd:anyURI

[Term]
id: MONDO:0013321
name: forsythe-wakeling syndrome
synonym: "FORSYTHE-WAKELING syndrome" RELATED [MONDO:Lexical, OMIM:613606]
synonym: "FWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613606]
synonym: "microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia" RELATED [OMIM:613606]
xref: MEDGEN:462209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613606 {source="MONDO:equivalentTo"}
xref: UMLS:C3150859 {source="MEDGEN:462209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:613606/inferred"} ! hereditary disease

[Term]
id: MONDO:0013322
name: epilepsy, familial adult myoclonic, 3
subset: gard_rare {source="GARD:18084", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cortical myoclonic tremor with epilepsy, familial, 3" RELATED [OMIM:613608]
synonym: "epilepsy, familial ADULT myoclonic, 3" RELATED [MONDO:Lexical, OMIM:613608]
synonym: "FAME3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613608]
xref: DOID:0111695 {source="MONDO:equivalentTo"}
xref: GARD:18084 {source="MONDO:GARD"}
xref: MEDGEN:462210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567098 {source="MONDO:equivalentTo"}
xref: OMIM:613608 {source="MONDO:equivalentTo"}
xref: Orphanet:86814 {source="OMIM:613608"}
xref: UMLS:C3150860 {source="MONDO:equivalentTo", source="MEDGEN:462210", source="MONDO:MEDGEN"}
is_a: MONDO:0000160 {source="DC-OMIM:613608", source="OMIM:613608"} ! epilepsy, familial adult myoclonic
relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy

[Term]
id: MONDO:0013323
name: cranioectodermal dysplasia 2
def: "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CED2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613610]
synonym: "CRANIOECTODERMAL dysplasia 2" RELATED [OMIM:613610]
synonym: "cranioectodermal dysplasia 2" EXACT [MONDO:Lexical, OMIM:613610]
synonym: "cranioectodermal dysplasia caused by mutation in WDR35" EXACT [MONDO:design_pattern]
synonym: "Cranioectodermal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613610]
synonym: "WDR35 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WDR35-related cranioectodermal dysplasia" EXACT [https://clinicalgenome.org/affiliation/40065/]
xref: DOID:0080804 {source="MONDO:equivalentTo"}
xref: GARD:15680 {source="MONDO:GARD"}
xref: MEDGEN:462224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613610 {source="MONDO:equivalentTo"}
xref: Orphanet:1515 {source="OMIM:613610"}
xref: UMLS:C3150874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462224"}
is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:613610", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia
intersection_of: MONDO:0009032 ! cranioectodermal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29250 ! WDR35
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613610"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29250 {source="MONDO:mim2gene_medgen"} ! WDR35
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7166" xsd:anyURI

[Term]
id: MONDO:0013324
name: lymphedema-posterior choanal atresia syndrome
subset: gard_rare {source="GARD:16898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99141"}
subset: ordo_malformation_syndrome {source="Orphanet:99141"}
subset: orphanet_rare {source="Orphanet:99141"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CATLPH" RELATED ABBREVIATION [OMIM:613611]
synonym: "choanal atresia and lymphedema" RELATED [OMIM:613611]
xref: GARD:16898 {source="MONDO:GARD"}
xref: ICD10CM:Q82.0 {source="Orphanet:99141/ntbt", source="Orphanet:99141", source="MONDO:directSiblingOf"}
xref: MEDGEN:462225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613611 {source="Orphanet:99141/e", source="MONDO:equivalentTo", source="Orphanet:99141"}
xref: Orphanet:99141 {source="MONDO:equivalentTo"}
xref: UMLS:C3150875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462225"}
is_a: MONDO:0002013 {source="Orphanet:99141"} ! lymphangioma
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9647 {source="MONDO:mim2gene_medgen"} ! PTPN14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013325
name: COG5-congenital disorder of glycosylation
def: "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." [Orphanet:263487]
subset: gard_rare {source="GARD:12348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263487"}
subset: orphanet_rare {source="Orphanet:263487"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type III" EXACT [Orphanet:263487]
synonym: "CDG III" RELATED [OMIM:613612]
synonym: "CDG syndrome type 3" RELATED [GARD:0001173]
synonym: "CDG syndrome type III" EXACT [Orphanet:263487]
synonym: "CDG-III" EXACT [Orphanet:263487]
synonym: "CDG2I" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613612, Orphanet:263487]
synonym: "COG5-CDG" EXACT ABBREVIATION [Orphanet:263487]
synonym: "COG5-CDG (CDG-III)" RELATED [GARD:0012348]
synonym: "COG5-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "congenital disorder of glycosylation type 2i" EXACT [Orphanet:263487]
synonym: "congenital disorder of glycosylation type III" EXACT [Orphanet:263487]
synonym: "congenital disorder of glycosylation, type III" RELATED [MONDO:Lexical, OMIM:613612]
xref: DOID:0070261 {source="MONDO:equivalentTo"}
xref: GARD:12348 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:263487", source="Orphanet:263487/attributed", source="Orphanet:263487/ntbt"}
xref: MEDGEN:462226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613612 {source="MONDO:equivalentTo", source="Orphanet:263487", source="Orphanet:263487/e"}
xref: Orphanet:263487 {source="MONDO:equivalentTo", source="OMIM:613612"}
xref: SCTID:721100009 {source="MONDO:equivalentTo"}
xref: UMLS:C3150876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462226"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005501 {source="DC-OMIM:613612", source="OMIM:613612"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0017750 {source="Orphanet:263487"} ! defect in conserved oligomeric Golgi complex
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14857 {source="MONDO:mim2gene_medgen"} ! COG5
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3" xsd:anyURI {source="GARD:0001173"}

[Term]
id: MONDO:0013326
name: Senior-Loken syndrome 7
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SDCCAG8 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SENIOR-Loken syndrome 7" RELATED [OMIM:613615]
synonym: "Senior-Loken syndrome 7" EXACT [MONDO:Lexical, OMIM:613615]
synonym: "Senior-Loken syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 7" EXACT [MONDORULE:1, OMIM:613615]
synonym: "SLSN7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613615]
xref: GARD:15681 {source="MONDO:GARD"}
xref: MEDGEN:462227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613615 {source="MONDO:equivalentTo"}
xref: Orphanet:3156 {source="OMIM:613615"}
xref: UMLS:C3150877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462227"}
is_a: MONDO:0017842 {source="DC-OMIM:613615", source="MONDO:Redundant", source="OMIM:613615"} ! Senior-Loken syndrome
intersection_of: MONDO:0017842 ! Senior-Loken syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10671 ! SDCCAG8
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613615"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10671 {source="MONDO:mim2gene_medgen"} ! SDCCAG8

[Term]
id: MONDO:0013327
name: primary hyperoxaluria type 3
def: "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." [Orphanet:93600]
subset: gard_rare {source="GARD:10738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93600"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HOGA1 primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613616]
synonym: "hyperoxaluria, primary, type 3" RELATED [OMIM:613616]
synonym: "hyperoxaluria, primary, type III" RELATED [MONDO:Lexical, OMIM:613616]
synonym: "PH III" RELATED [GARD:0010738]
synonym: "primary hyperoxaluria caused by mutation in HOGA1" EXACT [MONDO:design_pattern]
synonym: "primary hyperoxaluria type III" EXACT [NCIT:C123214]
xref: DOID:0111672 {source="MONDO:equivalentTo"}
xref: GARD:10738 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:93600", source="Orphanet:93600/attributed", source="Orphanet:93600/ntbt"}
xref: MEDGEN:462228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123214 {source="MONDO:equivalentTo"}
xref: OMIM:613616 {source="MONDO:equivalentTo", source="Orphanet:93600", source="Orphanet:93600/e"}
xref: Orphanet:416 {source="OMIM:613616"}
xref: Orphanet:93600 {source="MONDO:equivalentTo", source="OMIM:613616"}
xref: SCTID:734990008 {source="MONDO:equivalentTo"}
xref: UMLS:C3150878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462228"}
is_a: MONDO:0002474 {source="DC-OMIM:613616", source="MONDO:Redundant", source="NCIT:C123214", source="OMIM:613616", source="Orphanet:93600"} ! primary hyperoxaluria
intersection_of: MONDO:0002474 ! primary hyperoxaluria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25155 ! HOGA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25155 {source="MONDO:mim2gene_medgen"} ! HOGA1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3" xsd:anyURI {source="GARD:0010738"}

[Term]
id: MONDO:0013328
name: retinitis pigmentosa 58
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 58" EXACT [MONDO:Lexical, OMIM:613617]
synonym: "retinitis pigmentosa caused by mutation in ZNF513" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 58" EXACT [DOID:0110362, MONDORULE:2, OMIM:613617]
synonym: "RP58" EXACT ABBREVIATION [DOID:0110362, MONDO:Lexical, OMIM:613617]
synonym: "ZNF513 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110362 {source="MONDO:equivalentTo"}
xref: GARD:15682 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110362"}
xref: MEDGEN:462229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613617 {source="MONDO:equivalentTo", source="DOID:0110362"}
xref: UMLS:C3150879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462229"}
is_a: MONDO:0019200 {source="DC-OMIM:613617", source="DOID:0110362", source="MONDO:Redundant", source="OMIM:613617"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26498 ! ZNF513
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26498 {source="MONDO:mim2gene_medgen"} ! ZNF513

[Term]
id: MONDO:0013329
name: familial clubfoot due to 17q23.1q23.2 microduplication
def: "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." [Orphanet:238578]
subset: gard_rare {source="GARD:17177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:238578"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:238578"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 17q23.1-q23.2 DUPLICATION syndrome" RELATED [OMIM:613618]
synonym: "hereditary clubfoot due to 17q23.1-q23.2 microduplication" EXACT [Orphanet:238578]
xref: GARD:17177 {source="MONDO:GARD"}
xref: ICD10CM:Q66.8 {source="Orphanet:238578", source="Orphanet:238578/attributed", source="Orphanet:238578/ntbt"}
xref: MEDGEN:462230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613618 {source="Orphanet:238578", source="MONDO:equivalentTo", source="Orphanet:238578/e"}
xref: Orphanet:199315 {source="OMIM:613618"}
xref: Orphanet:238578 {source="MONDO:equivalentTo", source="OMIM:613618"}
xref: UMLS:C3150880 {source="MEDGEN:462230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DC-OMIM:613618", source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016046 {source="Orphanet:238578"} ! familial clubfoot with or without associated lower limb anomalies
is_a: MONDO:0016967 {source="Orphanet:238578"} ! partial duplication of the long arm of chromosome 17
relationship: disease_arises_from_structure CHR:9606-chr17q23.1-q23.2 {source="https://orcid.org/0000-0002-4142-7153"} ! 17q23.1-q23.2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0013330
name: agenesis of the corpus callosum and congenital lymphedema
synonym: "agenesis of the corpus callosum and congenital lymphedema" EXACT [OMIM:613623]
xref: MEDGEN:462237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613623 {source="MONDO:equivalentTo"}
xref: UMLS:C3150887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462237"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013331
name: factor 5 and Factor VIII, combined deficiency of, 2
def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "combined deficiency of factor V and factor VIII caused by mutation in MCFD2" EXACT [MONDO:design_pattern]
synonym: "F5F8D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613625]
synonym: "factor 5 and Factor VIII, combined deficiency of, 2" EXACT CLINGEN_LABEL []
synonym: "factor 5 and Factor VIII, combined deficiency of, type 2" EXACT [MONDORULE:1, OMIM:613625]
synonym: "factor V and factor VIII, combined deficiency of" EXACT [OMIM:613625, OMIM:genemap2]
synonym: "factor V and factor VIII, combined deficiency of, 2" RELATED [MONDO:Lexical, OMIM:613625]
synonym: "MCFD2 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18632 {source="MONDO:GARD"}
xref: MEDGEN:462239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613625 {source="MONDO:equivalentTo"}
xref: Orphanet:35909 {source="OMIM:613625"}
xref: UMLS:C3150889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462239"}
is_a: MONDO:0018175 {source="DC-OMIM:613625", source="MONDO:Redundant"} ! combined deficiency of factor V and factor VIII
intersection_of: MONDO:0018175 ! combined deficiency of factor V and factor VIII
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18451 ! MCFD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18451 {source="MONDO:mim2gene_medgen"} ! MCFD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013332
name: brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability
synonym: "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability" EXACT [OMIM:613627]
synonym: "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation" EXACT DEPRECATED [OMIM:613627]
synonym: "Tsukahara syndrome" RELATED [OMIM:613627]
xref: MEDGEN:462240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613627 {source="MONDO:equivalentTo"}
xref: SCTID:719162001 {source="MONDO:equivalentTo"}
xref: UMLS:C3150890 {source="MEDGEN:462240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013333
name: odontoid hypoplasia
def: "An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations." [NCIT:C86969]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "odontoid hypoplasia" EXACT [OMIM:613628]
xref: MEDGEN:339524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C86969 {source="MONDO:equivalentTo"}
xref: OMIM:613628 {source="MONDO:equivalentTo"}
xref: UMLS:C1846439 {source="MEDGEN:339524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005497 {source="NCIT:C86969"} ! bone development disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015328"} ! rare

[Term]
id: MONDO:0013334
name: cocoon syndrome
def: "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported." [Orphanet:465824]
subset: gard_rare {source="GARD:17823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:465824"}
subset: ordo_malformation_syndrome {source="Orphanet:465824"}
subset: orphanet_rare {source="Orphanet:465824"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cocoon syndrome" EXACT [OMIM:613630]
synonym: "fetal encasement syndrome" EXACT [DOID:0060647, OMIM:613630]
synonym: "foetal encasement syndrome" EXACT OMO:0003005 []
xref: DOID:0060647 {source="MONDO:equivalentTo"}
xref: GARD:17823 {source="MONDO:GARD"}
xref: MEDGEN:462241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613630 {source="MONDO:equivalentTo", source="Orphanet:465824", source="DOID:0060647", source="Orphanet:465824/e"}
xref: Orphanet:465824 {source="MONDO:equivalentTo"}
xref: UMLS:C3150891 {source="MEDGEN:462241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0021147 {source="Orphanet:465824", source="Orphanet:465824/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1974 {source="MONDO:mim2gene_medgen"} ! CHUK

[Term]
id: MONDO:0013335
name: tuberculin skin test reactivity, absence of
synonym: "tst reactivity, absence of" RELATED [OMIM:613636]
synonym: "Tst1" RELATED [OMIM:613636]
synonym: "tuberculin skin test reactivity, absence of" EXACT [OMIM:613636, OMIM:genemap2]
xref: MEDGEN:462242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613636 {source="MONDO:equivalentTo"}
xref: UMLS:C3150892 {source="MEDGEN:462242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013336
name: chromosome 19p13.13 deletion syndrome
def: "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." [Orphanet:357001]
subset: gard_rare {source="GARD:17542", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357001"}
subset: ordo_malformation_syndrome {source="Orphanet:357001"}
subset: orphanet_rare {source="Orphanet:357001"}
subset: rare
synonym: "19p13.13 microdeletion syndrome" RELATED [Orphanet:357001]
synonym: "chromosome 19p13.13 deletion syndrome" EXACT [OMIM:613638]
synonym: "chromosome 19P13.13 Duplication syndrome" RELATED [OMIM:613638]
synonym: "Del(19)(p13.13)" EXACT [Orphanet:357001]
synonym: "monosomy 19p13.13" EXACT [Orphanet:357001]
xref: DOID:0060426 {source="MONDO:equivalentTo"}
xref: GARD:17542 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:357001/attributed", source="Orphanet:357001/ntbt", source="Orphanet:357001"}
xref: MEDGEN:462244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613638 {source="Orphanet:357001/e", source="MONDO:equivalentTo", source="DOID:0060426", source="Orphanet:357001"}
xref: Orphanet:357001 {source="MONDO:equivalentTo"}
xref: SCTID:764440006 {source="MONDO:equivalentTo"}
xref: UMLS:C3150894 {source="MEDGEN:462244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613638", source="DOID:0060426"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015159 {source="Orphanet:357001"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016897 {source="Orphanet:357001"} ! partial deletion of the short arm of chromosome 19
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr19p13.13 ! 19p13.13 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:357001", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013337
name: neuropathy, hereditary sensory and autonomic, type 1C
def: "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." [DOID:0070157]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary sensory and autonomic neuropathy type 1C" RELATED [DOID:0070157]
synonym: "hereditary sensory and autonomic neuropathy type IC" EXACT [DOID:0070157]
synonym: "HSAN 1C" RELATED [OMIM:613640]
synonym: "HSAN1C" EXACT ABBREVIATION [DOID:0070157, MONDO:Lexical, OMIM:613640]
synonym: "HSN 1C" RELATED [OMIM:613640]
synonym: "neuropathy, hereditary sensory and autonomic, type IC" RELATED [MONDO:Lexical, OMIM:613640]
synonym: "neuropathy, hereditary sensory, type 1C" RELATED [OMIM:613640]
xref: DOID:0070157 {source="MONDO:equivalentTo"}
xref: GARD:15683 {source="MONDO:GARD"}
xref: MEDGEN:462246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613640 {source="DOID:0070157", source="MONDO:equivalentTo"}
xref: Orphanet:36386 {source="OMIM:613640"}
xref: UMLS:C3150896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462246"}
is_a: MONDO:0018213 {source="DOID:0070157", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11278 {source="MONDO:mim2gene_medgen"} ! SPTLC2

[Term]
id: MONDO:0013338
name: Charcot-Marie-Tooth disease recessive intermediate B
def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology." [Orphanet:254334]
subset: gard_rare {source="GARD:12454", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254334"}
subset: orphanet_rare {source="Orphanet:254334"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [DOID:0110204]
synonym: "Charcot-Marie-Tooth disease caused by mutation in KARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease recessive intermediate type B" EXACT [DOID:0110204, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate B" RELATED [MONDO:Lexical, OMIM:613641]
synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type B" EXACT [MONDORULE:1, OMIM:613641]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate, B" RELATED [GARD:0012454]
synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT [DOID:0110204]
synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" RELATED [OMIM:613641]
synonym: "CMTRIB" EXACT ABBREVIATION [DOID:0110204, MONDO:Lexical, OMIM:613641]
synonym: "KARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RI-CMT type B" EXACT [Orphanet:254334]
synonym: "RI-CMTB" EXACT [DOID:0110204]
xref: DOID:0110204 {source="MONDO:equivalentTo"}
xref: GARD:12454 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110204", source="Orphanet:254334/attributed", source="Orphanet:254334/ntbt", source="Orphanet:254334"}
xref: MEDGEN:462247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613641 {source="DOID:0110204", source="Orphanet:254334", source="MONDO:equivalentTo", source="Orphanet:254334/e"}
xref: Orphanet:254334 {source="DOID:0110204", source="OMIM:613641", source="MONDO:equivalentTo"}
xref: UMLS:C3150897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462247"}
is_a: MONDO:0015626 {source="DOID:0110204/inferred", source="MONDO:Redundant", source="OMIM:613641", source="Orphanet:254334/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0017058 {source="Orphanet:254334"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6215 ! KARS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6215 {source="MONDO:mim2gene_medgen"} ! KARS1

[Term]
id: MONDO:0013339
name: dilated cardiomyopathy 1GG
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1GG" RELATED [MONDO:Lexical, OMIM:613642]
synonym: "cardiomyopathy, dilated, type 1Gg" EXACT [MONDORULE:9, OMIM:613642]
synonym: "CMD1GG" EXACT ABBREVIATION [DOID:0110435, MONDO:Lexical, OMIM:613642]
synonym: "dilated cardiomyopathy type 1GG" EXACT [DOID:0110435, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in SDHA" EXACT [MONDO:design_pattern]
synonym: "SDHA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110435 {source="MONDO:equivalentTo"}
xref: GARD:15684 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110435"}
xref: MEDGEN:462248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613642 {source="DOID:0110435", source="MONDO:equivalentTo"}
xref: UMLS:C3150898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462248"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613642"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10680 {source="MONDO:mim2gene_medgen"} ! SDHA

[Term]
id: MONDO:0013340
name: Parkinson disease 5, autosomal dominant, susceptibility to
def: "An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
subset: predisposition
synonym: "PARK5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613643]
synonym: "Parkinson disease 5, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:613643]
synonym: "Parkinson disease 5, susceptibility to" EXACT [OMIM:613643, OMIM:genemap2]
synonym: "susceptibility to autosomal dominant Parkinson disease 5" RELATED [OMIM:613643]
synonym: "UCHL1 young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "young-onset Parkinson disease caused by mutation in UCHL1" EXACT [MONDO:design_pattern]
xref: MEDGEN:462249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613643 {source="MONDO:equivalentTo"}
xref: Orphanet:2828 {source="OMIM:613643"}
xref: UMLS:C3150899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462249"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12513 ! UCHL1
intersection_of: predisposes_towards MONDO:0005180 ! Parkinson disease
relationship: excluded_subClassOf MONDO:0017279 {source="Orphanet:2828/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! young-onset Parkinson disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12513 {source="MONDO:mim2gene_medgen"} ! UCHL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013341
name: methylmalonic acidemia due to transcobalamin receptor defect
def: "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." [Orphanet:280183]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16481", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_biological_anomaly {source="Orphanet:280183"}
subset: ordo_disorder {source="Orphanet:280183"}
subset: orphanet_rare {source="Orphanet:280183"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD320 methylmalonic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "methylmalonic acidemia caused by mutation in CD320" EXACT [MONDO:design_pattern]
synonym: "methylmalonic acidemia, TCb1R type" EXACT [DOID:0060741, Orphanet:280183]
synonym: "methylmalonic acidemia, TCbIR type" EXACT [DOID:0060741, Orphanet:280183]
synonym: "methylmalonic acidemia, Tcblr type" RELATED [OMIM:613646]
synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [DOID:0060741, OMIM:613646]
synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" RELATED [OMIM:613646]
xref: DOID:0060741 {source="MONDO:equivalentTo"}
xref: GARD:16481 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:280183/attributed", source="Orphanet:280183/ntbt", source="DOID:0060741", source="Orphanet:280183"}
xref: MEDGEN:1670056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613646 {source="DOID:0060741", source="Orphanet:280183", source="MONDO:equivalentTo", source="Orphanet:280183/e"}
xref: Orphanet:280183 {source="DOID:0060741", source="MONDO:equivalentTo", source="OMIM:613646"}
xref: UMLS:C4749905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670056"}
is_a: MONDO:0002012 {source="DC-OMIM:613646", source="DOID:0060741", source="MONDO:Entailed", source="MONDO:Redundant"} ! methylmalonic acidemia
is_a: MONDO:0019220 {source="Orphanet:280183"} ! inborn disorder of cobalamin metabolism and transport
intersection_of: MONDO:0002012 ! methylmalonic acidemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16692 ! CD320
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16692 {source="MONDO:mim2gene_medgen"} ! CD320

[Term]
id: MONDO:0013342
name: hereditary spastic paraplegia 48
def: "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." [Orphanet:306511]
subset: gard_rare {source="GARD:17378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306511"}
subset: orphanet_rare {source="Orphanet:306511"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AP5Z1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spastic paraplegia 48" EXACT [DOID:0110800]
synonym: "autosomal recessive spastic paraplegia type 48" EXACT [DOID:0110800]
synonym: "hereditary spastic paraplegia caused by mutation in AP5Z1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 48" EXACT [DOID:0110800, MONDORULE:2]
synonym: "spastic paraplegia 48, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613647]
synonym: "SPG48" EXACT ABBREVIATION [DOID:0110800, MONDO:Lexical, OMIM:613647, Orphanet:306511]
xref: DOID:0110800 {source="MONDO:equivalentTo"}
xref: GARD:17378 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110800", source="Orphanet:306511/attributed", source="Orphanet:306511/ntbt", source="Orphanet:306511"}
xref: MEDGEN:462251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613647 {source="DOID:0110800", source="Orphanet:306511/e", source="MONDO:equivalentTo", source="Orphanet:306511"}
xref: Orphanet:306511 {source="DOID:0110800", source="MONDO:equivalentTo", source="OMIM:613647"}
xref: SCTID:763367009 {source="MONDO:equivalentTo"}
xref: UMLS:C3150901 {source="MEDGEN:462251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="Orphanet:306511"} ! lysosomal storage disease
is_a: MONDO:0019064 {source="DOID:0110800", source="MONDO:Redundant", source="OMIM:613647", source="Orphanet:306511/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22197 ! AP5Z1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22197 {source="MONDO:mim2gene_medgen"} ! AP5Z1

[Term]
id: MONDO:0013343
name: C1Q deficiency
def: "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." [https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency, PMID:29449492]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12958", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C1Q deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613652]
synonym: "C1q deficiency" EXACT [OMIM:613652]
synonym: "C1QD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613652]
xref: GARD:12958 {source="MONDO:GARD"}
xref: MEDGEN:462252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200777 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119990 {source="MONDO:equivalentTo"}
xref: OMIMPS:613652 {source="MONDO:equivalentTo"}
xref: Orphanet:169147 {source="OMIM:613652"}
xref: UMLS:C3150902 {source="MEDGEN:462252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003832 {source="NCIT:C119990"} ! complement deficiency
is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613652"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency" xsd:anyURI {source="GARD:0012958"}

[Term]
id: MONDO:0013344
name: migraine, with or without aura, susceptibility to, 13
def: "Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "KCNK18 migraine disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MGR13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613656]
synonym: "migraine disorder caused by mutation in KCNK18" EXACT [MONDO:design_pattern]
synonym: "migraine with or without aura, susceptibility to, 13" RELATED [OMIM:613656]
synonym: "migraine, with or without aura, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:613656]
synonym: "migraine, with or without aura, susceptibility to, type 13" EXACT [MONDORULE:2, OMIM:613656]
synonym: "susceptibility to migraine with or without aura 13" RELATED [OMIM:613656]
xref: MEDGEN:462258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613656 {source="MONDO:equivalentTo"}
xref: UMLS:C3150908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462258"}
is_a: MONDO:0100246 {source="DC-OMIM:613656", source="MONDO:Redundant", source="OMIM:613656/inferred"} ! migraine with or without aura, susceptibility to
intersection_of: MONDO:0100246 ! migraine with or without aura, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19439 ! KCNK18
intersection_of: predisposes_towards MONDO:0005277 ! migraine disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19439 {source="MONDO:mim2gene_medgen"} ! KCNK18

[Term]
id: MONDO:0013345
name: d-2-hydroxyglutaric aciduria 2
def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15685", source="MONDO:GARD"}
subset: rare
synonym: "D-2-hydroxyglutaric aciduria 2" RELATED [OMIM:613657]
synonym: "d-2-hydroxyglutaric aciduria 2" EXACT [MONDO:Lexical, OMIM:613657]
synonym: "D-2-hydroxyglutaric aciduria caused by mutation in IDH2" EXACT [MONDO:design_pattern]
synonym: "D-2-hydroxyglutaric aciduria type 2" EXACT [MONDORULE:1, OMIM:613657]
synonym: "D2HGA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613657]
synonym: "IDH2 D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111352 {source="MONDO:equivalentTo"}
xref: GARD:15685 {source="MONDO:GARD"}
xref: MEDGEN:462259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613657 {source="MONDO:equivalentTo"}
xref: Orphanet:79315 {source="OMIM:613657"}
xref: UMLS:C3150909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462259"}
is_a: MONDO:0010924 {source="MONDO:Redundant", source="OMIM:613657", source="Orphanet:79315/btnt"} ! D-2-hydroxyglutaric aciduria
intersection_of: MONDO:0010924 ! D-2-hydroxyglutaric aciduria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5383 ! IDH2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5383 {source="MONDO:mim2gene_medgen"} ! IDH2

[Term]
id: MONDO:0013346
name: obsolete brain calcification, Rajab type
comment: This is a prototype term for an OMIMPS, obsoleted this term and recreated the class that is a child of th OMIMPS.
is_obsolete: true
replaced_by: MONDO:0100215

[Term]
id: MONDO:0013347
name: obsolete gastric cancer
is_obsolete: true
replaced_by: MONDO:0001056

[Term]
id: MONDO:0013348
name: cone-rod dystrophy 15
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15686", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDHR1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 15" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613660]
synonym: "cone-rod dystrophy caused by mutation in CDHR1" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 15" EXACT [DOID:0111021, MONDORULE:2, OMIM:613660]
synonym: "CORD15" EXACT ABBREVIATION [DOID:0111021, MONDO:Lexical, OMIM:613660]
synonym: "retinitis pigmentosa 65" RELATED [OMIM:613660]
xref: DOID:0111021 {source="MONDO:equivalentTo"}
xref: GARD:15686 {source="MONDO:GARD"}
xref: MEDGEN:462262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613660 {source="MONDO:equivalentTo", source="DOID:0111021"}
xref: Orphanet:1872 {source="OMIM:613660"}
xref: Orphanet:791 {source="OMIM:613660"}
xref: UMLS:C3150912 {source="MEDGEN:462262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:613660", source="DOID:0111021", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0019200 {source="DC-OMIM:613660", source="OMIM:613660"} ! retinitis pigmentosa
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14550 ! CDHR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14550 {source="MONDO:mim2gene_medgen"} ! CDHR1

[Term]
id: MONDO:0013349
name: ALG11-congenital disorder of glycosylation
def: "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)." [Orphanet:280071]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12396", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280071"}
subset: orphanet_rare {source="Orphanet:280071"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG11-CDG" EXACT ABBREVIATION [Orphanet:280071]
synonym: "ALG11-CDG (CDG-Ip)" RELATED [GARD:0012396]
synonym: "ALG11-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "carbohydrate deficient glycoprotein syndrome type Ip" EXACT [Orphanet:280071]
synonym: "CDG syndrome type Ip" EXACT [Orphanet:280071]
synonym: "CDG-Ip" EXACT [Orphanet:280071]
synonym: "CDG1P" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613661, Orphanet:280071]
synonym: "congenital disorder of glycosylation type 1p" EXACT [Orphanet:280071]
synonym: "congenital disorder of glycosylation type Ip" EXACT [Orphanet:280071]
synonym: "congenital disorder of glycosylation, type Ip" RELATED [MONDO:Lexical, OMIM:613661]
xref: DOID:0080567 {source="MONDO:equivalentTo"}
xref: GARD:12396 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:280071/attributed", source="Orphanet:280071/ntbt", source="Orphanet:280071"}
xref: MEDGEN:462263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613661 {source="Orphanet:280071", source="MONDO:equivalentTo", source="Orphanet:280071/e"}
xref: Orphanet:280071 {source="OMIM:613661", source="MONDO:equivalentTo"}
xref: SCTID:733085004 {source="MONDO:equivalentTo"}
xref: UMLS:C3150913 {source="MEDGEN:462263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005500 {source="DC-OMIM:613661"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MONDO:0013349/inferred", source="MONDO:Redundant", source="OMIM:613661", source="Orphanet:280071/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:280071"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32456 {source="MONDO:mim2gene_medgen"} ! ALG11

[Term]
id: MONDO:0013350
name: mitochondrial DNA depletion syndrome 4b
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mitochondrial DNA depletion syndrome 4B (MNGIE type)" RELATED [MONDO:Lexical, OMIM:613662]
synonym: "mitochondrial DNA depletion syndrome type 4b" EXACT [DOID:0080123, MONDORULE:4]
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related" RELATED [OMIM:613662]
synonym: "Mngie, Polg-related" RELATED [OMIM:613662]
synonym: "MTDPS4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613662]
xref: DOID:0080123 {source="MONDO:equivalentTo"}
xref: MEDGEN:462264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613662 {source="DOID:0080123", source="MONDO:equivalentTo"}
xref: Orphanet:298 {source="OMIM:613662", source="MONDO:relatedTo"}
xref: UMLS:C3150914 {source="MEDGEN:462264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018158 {source="DC-OMIM:613662", source="OMIM:613662"} ! mitochondrial DNA depletion syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG

[Term]
id: MONDO:0013351
name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
def: "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." [Orphanet:402364]
subset: gard_rare {source="GARD:10995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402364"}
subset: ordo_malformation_syndrome {source="Orphanet:402364"}
subset: orphanet_rare {source="Orphanet:402364"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly, postnatal progressive, with seizures and brain atrophy" RELATED [OMIM:613668]
synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" RELATED [GARD:0010995]
xref: DOID:0111262 {source="MONDO:equivalentTo"}
xref: GARD:10995 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:402364/attributed", source="Orphanet:402364/ntbt", source="Orphanet:402364"}
xref: MEDGEN:462271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613668 {source="Orphanet:402364/e", source="MONDO:equivalentTo", source="Orphanet:402364"}
xref: Orphanet:402364 {source="MONDO:equivalentTo", source="OMIM:613668"}
xref: UMLS:C3150921 {source="MEDGEN:462271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002602 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2375 {source="MONDO:mim2gene_medgen"} ! MED17

[Term]
id: MONDO:0013352
name: intellectual disability-severe speech delay-mild dysmorphism syndrome
def: "Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene." [https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391372"}
subset: ordo_malformation_syndrome {source="Orphanet:391372"}
subset: orphanet_rare {source="Orphanet:391372"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FOXP1 related global developmental delay, intellectual disability and speech defects" RELATED [GARD:0012501]
synonym: "intellectual disability with language impairment and with or without autistic features" RELATED [GARD:0012501, OMIM:613670]
synonym: "intellectual disability-severe speech delay-mild dysmorphism syndrome" EXACT CLINGEN_LABEL []
synonym: "mental retardation with language impairment and with or without autistic features" RELATED DEPRECATED [OMIM:613670]
xref: DOID:0111331 {source="MONDO:equivalentTo"}
xref: GARD:12501 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:391372/attributed", source="Orphanet:391372/ntbt", source="Orphanet:391372"}
xref: MEDGEN:862201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613670 {source="Orphanet:391372", source="MONDO:equivalentTo", source="Orphanet:391372/e"}
xref: Orphanet:391372 {source="MONDO:equivalentTo", source="OMIM:613670"}
xref: UMLS:C4013764 {source="MEDGEN:862201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="Orphanet:391372", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3823 {source="MONDO:mim2gene_medgen"} ! FOXP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome" xsd:anyURI {source="GARD:0012501"}

[Term]
id: MONDO:0013353
name: intellectual disability, anterior maxillary protrusion, and strabismus
subset: gard_rare {source="GARD:17997", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:562559"}
subset: orphanet_rare {source="Orphanet:562559"}
subset: rare
synonym: "intellectual disability, anterior maxillary protrusion, and strabismus" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613671]
synonym: "mental retardation, anterior maxillary protrusion, and strabismus" RELATED DEPRECATED [MONDO:Lexical, OMIM:613671]
synonym: "MRAMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:613671]
xref: GARD:17997 {source="MONDO:GARD"}
xref: MEDGEN:462274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613671 {source="MONDO:equivalentTo"}
xref: Orphanet:562559 {source="MONDO:equivalentTo"}
xref: UMLS:C3150924 {source="MEDGEN:462274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29256 {source="MONDO:mim2gene_medgen"} ! SOBP

[Term]
id: MONDO:0013354
name: spastic ataxia 4
def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254343"}
subset: orphanet_rare {source="Orphanet:254343"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic ataxia - optic atrophy - dysarthria" RELATED [GARD:0010992]
synonym: "autosomal recessive spastic ataxia 4" RELATED [GARD:0010992]
synonym: "autosomal recessive spastic ataxia caused by mutation in MTPAP" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic ataxia type 4" EXACT [Orphanet:254343]
synonym: "autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" RELATED [Orphanet:254343]
synonym: "MTPAP autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic ataxia 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613672]
synonym: "spastic ataxia type 4" EXACT [DOID:0050943, MONDORULE:1]
synonym: "SPAX4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613672, Orphanet:254343]
xref: DOID:0050943 {source="MONDO:equivalentTo"}
xref: GARD:10992 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:254343", source="MONDO:relatedTo", source="Orphanet:254343/attributed", source="Orphanet:254343/ntbt"}
xref: MEDGEN:462275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613672 {source="Orphanet:254343", source="MONDO:equivalentTo", source="Orphanet:254343/e", source="DOID:0050943"}
xref: Orphanet:254343 {source="OMIM:613672", source="MONDO:equivalentTo"}
xref: UMLS:C3150925 {source="MEDGEN:462275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0017845 {source="DOID:0050943", source="MONDO:Redundant", source="OMIM:613672", source="Orphanet:254343/inferred"} ! spastic ataxia
is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:254343"} ! autosomal recessive spastic ataxia
intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25532 ! MTPAP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25532 {source="MONDO:mim2gene_medgen"} ! MTPAP

[Term]
id: MONDO:0013355
name: congenital dyserythropoietic anemia type 4
def: "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." [Orphanet:293825]
subset: gard_rare {source="GARD:17344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293825"}
subset: orphanet_rare {source="Orphanet:293825"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, congenital dyserythropoietic, type 4" RELATED [OMIM:613673]
synonym: "anemia, congenital dyserythropoietic, type IV" RELATED [MONDO:Lexical, OMIM:613673]
synonym: "CDA due to KLF1 mutation" EXACT [Orphanet:293825]
synonym: "CDA IV" EXACT [Orphanet:293825]
synonym: "CDA type 4" EXACT [Orphanet:293825]
synonym: "CDA type IV" EXACT [Orphanet:293825]
synonym: "CDA, type 4" RELATED [OMIM:613673]
synonym: "CDAN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613673, Orphanet:293825]
synonym: "congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT OMO:0003005 []
synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [Orphanet:293825]
synonym: "congenital dyserythropoietic anemia type 4" EXACT [Orphanet:293825]
synonym: "dyserythropoietic anemia, congenital, type IV" EXACT [OMIM:613673, OMIM:genemap2]
xref: DOID:0111400 {source="MONDO:equivalentTo"}
xref: GARD:17344 {source="MONDO:GARD"}
xref: ICD10CM:D64.4 {source="Orphanet:293825", source="Orphanet:293825/attributed", source="Orphanet:293825/ntbt"}
xref: MEDGEN:462276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613673 {source="Orphanet:293825", source="MONDO:equivalentTo", source="Orphanet:293825/e"}
xref: Orphanet:293825 {source="OMIM:613673", source="MONDO:equivalentTo"}
xref: SCTID:719453009 {source="MONDO:equivalentTo"}
xref: UMLS:C3150926 {source="MONDO:equivalentTo", source="MEDGEN:462276", source="MONDO:MEDGEN"}
is_a: MONDO:0019403 {source="DC-OMIM:613673", source="OMIM:613673", source="Orphanet:293825"} ! congenital dyserythropoietic anemia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6345 {source="MONDO:mim2gene_medgen"} ! KLF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013356
name: vesicoureteral reflux 3
def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18420", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SOX17 vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "vesicoureteral reflux (disease) caused by mutation in SOX17" EXACT []
synonym: "vesicoureteral reflux 3" EXACT [MONDO:Lexical, OMIM:613674]
synonym: "vesicoureteral reflux type 3" EXACT [MONDORULE:1, OMIM:613674]
synonym: "VUR3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613674]
xref: GARD:18420 {source="MONDO:GARD"}
xref: MEDGEN:462277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613674 {source="MONDO:equivalentTo"}
xref: Orphanet:289365 {source="OMIM:613674"}
xref: UMLS:C3150927 {source="MEDGEN:462277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:613674", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux
intersection_of: MONDO:0017329 ! familial vesicoureteral reflux
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18122 ! SOX17
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18122 {source="MONDO:mim2gene_medgen"} ! SOX17

[Term]
id: MONDO:0013357
name: chromosome 17q11.2 deletion syndrome, 1.4Mb
def: "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." [https://orcid.org/0000-0001-5208-3432, Orphanet:97685]
subset: gard_rare {source="GARD:5408", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137634"}
subset: ordo_malformation_syndrome {source="Orphanet:137634"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97685"}
subset: orphanet_rare {source="Orphanet:137634"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17q11 microdeletion syndrome" EXACT [DOID:0060403]
synonym: "chromosome 17q11.2 deletion syndrome" EXACT [GARD:0005408]
synonym: "chromosome 17q11.2 deletion syndrome, 1.4-MB" EXACT [OMIM:613675]
synonym: "Del(17)(q11)" EXACT [Orphanet:97685]
synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" EXACT [MONDO:Lexical, OMIM:614192]
synonym: "MMFD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614192]
synonym: "monosomy 17q11" EXACT [Orphanet:97685]
synonym: "neurofibromatosis 1 microdeletion syndrome" EXACT [OMIM:613675]
synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [DOID:0060403, Orphanet:97685]
synonym: "NF1 microdeletion syndrome" EXACT [DOID:0060403, OMIM:613675, Orphanet:97685]
synonym: "NF1 microduplication syndrome" EXACT [OMIM:613675]
synonym: "overgrowth-macrocephaly-facial dysmorphism syndrome" EXACT [MONDO:0013617]
synonym: "RNF135-related overgrowth syndrome" EXACT [Orphanet:137634]
synonym: "Van Asperen syndrome" EXACT [DOID:0060403, OMIM:613675]
xref: DOID:0060403 {source="MONDO:equivalentTo"}
xref: GARD:5408 {source="MONDO:GARD"}
xref: ICD10CM:Q85.0 {source="Orphanet:97685", source="Orphanet:97685/attributed", source="Orphanet:97685/ntbt", source="DOID:0060403"}
xref: ICD10CM:Q87.3 {source="Orphanet:137634/attributed", source="Orphanet:137634/ntbt", source="Orphanet:137634"}
xref: MEDGEN:1726802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563524 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: OMIM:613675 {source="Orphanet:97685", source="MONDO:equivalentTo", source="Orphanet:97685/e", source="DOID:0060403"}
xref: Orphanet:137634 {source="MONDO:equivalentTo", source="OMIM:614192"}
xref: Orphanet:139474 {source="OMIM:613675", source="MONDO:relatedTo"}
xref: Orphanet:636 {source="OMIM:613675"}
xref: Orphanet:97685 {source="OMIM:613675", source="MONDO:equivalentTo", source="DOID:0060403"}
xref: SCTID:722122000 {source="MONDO:equivalentTo"}
xref: UMLS:C5401456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1726802"}
is_a: MONDO:0000761 {source="DC-OMIM:613675", source="DOID:0060403"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016915 {source="Orphanet:97685"} ! partial deletion of the long arm of chromosome 17
is_a: MONDO:0018975 {source="Orphanet:97685"} ! neurofibromatosis type 1
relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:137634", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613675"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4209" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5408/chromosome-17q112-deletion-syndrome" xsd:string

[Term]
id: MONDO:0013358
name: Seckel syndrome 4
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CENPJ Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL4" EXACT ABBREVIATION [DOID:0070010, MONDO:Lexical, OMIM:613676]
synonym: "Seckel syndrome 4" EXACT [MONDO:Lexical, OMIM:613676]
synonym: "Seckel syndrome caused by mutation in CENPJ" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 4" EXACT [MONDORULE:1, OMIM:613676]
xref: DOID:0070010 {source="MONDO:equivalentTo"}
xref: GARD:15687 {source="MONDO:GARD"}
xref: MEDGEN:854819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613676 {source="DOID:0070010", source="MONDO:equivalentTo"}
xref: Orphanet:808 {source="OMIM:613676"}
xref: UMLS:C3888212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854819"}
is_a: MONDO:0019342 {source="DC-OMIM:613676", source="DOID:0070010", source="MONDO:Redundant", source="OMIM:613676"} ! Seckel syndrome
is_a: MONDO:0700054 {source="https://clinicalgenome.org/affiliation/40060"} ! microcephaly 6 with or without short stature
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17272 ! CENPJ
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613676"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17272 {source="MONDO:mim2gene_medgen"} ! CENPJ

[Term]
id: MONDO:0013359
name: familial hyperaldosteronism type III
def: "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." [Orphanet:251274]
subset: gard_rare {source="GARD:12362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251274"}
subset: orphanet_rare {source="Orphanet:251274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hyperaldosteronism type 3" EXACT [Orphanet:251274]
synonym: "FH 3" RELATED [OMIM:613677]
synonym: "FH III" RELATED [GARD:0012362]
synonym: "FH-III" EXACT [Orphanet:251274]
synonym: "FH3" EXACT ABBREVIATION [Orphanet:251274]
synonym: "HALD3" RELATED ABBREVIATION [OMIM:613677]
synonym: "hyperaldosteronism, familial, type 3" RELATED [OMIM:613677]
synonym: "hyperaldosteronism, familial, type III" RELATED [OMIM:613677]
xref: GARD:12362 {source="MONDO:GARD"}
xref: ICD10CM:E26.0 {source="Orphanet:251274", source="Orphanet:251274/attributed", source="Orphanet:251274/ntbt"}
xref: MEDGEN:824604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613677 {source="Orphanet:251274", source="MONDO:equivalentTo", source="Orphanet:251274/e"}
xref: Orphanet:251274 {source="OMIM:613677", source="MONDO:equivalentTo"}
xref: SCTID:703234002 {source="MONDO:equivalentTo"}
xref: UMLS:C3838758 {source="MEDGEN:824604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016525 {source="Orphanet:251274"} ! familial hyperaldosteronism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6266 {source="MONDO:mim2gene_medgen"} ! KCNJ5

[Term]
id: MONDO:0013360
name: brachyolmia, Maroteaux type
def: "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." [Orphanet:93302]
subset: gard_rare {source="GARD:16816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93302"}
subset: ordo_malformation_syndrome {source="Orphanet:93302"}
subset: orphanet_rare {source="Orphanet:93302"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCYM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613678]
synonym: "brachyolmia type 2" EXACT [MONDO:Lexical, OMIM:613678, Orphanet:93302]
synonym: "brachyolmia, Maroteaux type" EXACT [OMIM:613678]
xref: GARD:16816 {source="MONDO:GARD"}
xref: ICD10CM:Q76.3 {source="Orphanet:93302", source="Orphanet:93302/attributed", source="Orphanet:93302/ntbt"}
xref: MEDGEN:1777254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613678 {source="MONDO:equivalentTo", source="Orphanet:93302", source="Orphanet:93302/e"}
xref: Orphanet:93302 {source="MONDO:equivalentTo", source="OMIM:613678"}
xref: SCTID:389165004 {source="MONDO:equivalentTo"}
xref: UMLS:C5399913 {source="MEDGEN:1777254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015262 {source="DC-OMIM:613678", source="Orphanet:93302"} ! brachyolmia

[Term]
id: MONDO:0013361
name: congenital prothrombin deficiency
def: "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms." [Orphanet:325]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2926", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:325"}
subset: orphanet_rare {source="Orphanet:325"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital factor II deficiency" RELATED [Orphanet:325]
synonym: "congenital prothrombin deficiency" EXACT CLINGEN_LABEL []
synonym: "Dysprothrombinemia" EXACT [OMIM:613679, Orphanet:325]
synonym: "factor 2 deficiency" BROAD [GARD:0002235]
synonym: "factor II deficiency" BROAD [DOID:2235, NCIT:C26799]
synonym: "hereditary prothrombin deficiency" EXACT [MONDO:patterns/hereditary]
synonym: "hypoprothrombinemia" BROAD [DOID:2235, OMIM:613679, Orphanet:325]
synonym: "prothrombin deficiency" BROAD [OMIM:613679, OMIM:genemap2, Orphanet:325]
synonym: "prothrombin deficiency, congenital" RELATED [OMIM:613679]
xref: DOID:2235 {source="MONDO:equivalentTo"}
xref: GARD:2926 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:325/attributed", source="Orphanet:325/ntbt", source="Orphanet:325"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:124425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007020 {source="DOID:2235", source="MONDO:equivalentTo"}
xref: NANDO:2200673 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131737 {source="MONDO:equivalentTo"}
xref: OMIM:613679 {source="Orphanet:325", source="DOID:2235", source="MONDO:equivalentTo", source="Orphanet:325/e"}
xref: Orphanet:325 {source="MONDO:equivalentTo", source="OMIM:613679"}
xref: SCTID:73975000 {source="MONDO:equivalentTo"}
xref: UMLS:C0272317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124425"}
is_a: MONDO:0002243 {source="MESH:D007020", source="MONDO:Redundant", source="OMIM:613679/inferred"} ! hemorrhagic disease
is_a: MONDO:0006025 {source="DOID:2235", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015722 {source="Orphanet:325"} ! congenital vitamin K-dependent coagulation factors deficiency
is_a: MONDO:0021181 {source="MESH:D007020", source="MONDO:Redundant", source="OMIM:613679/inferred"} ! inherited blood coagulation disorder
intersection_of: MONDO:0024307 ! prothrombin deficiency
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613679", source="Orphanet:325"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3535 {source="MONDO:mim2gene_medgen"} ! F2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency" xsd:anyURI {source="GARD:0002235"}

[Term]
id: MONDO:0013362
name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
subset: gard_rare {source="GARD:17558", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:363444"}
subset: ordo_malformation_syndrome {source="Orphanet:363444"}
subset: orphanet_rare {source="Orphanet:363444"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BBIS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613680, Orphanet:363444]
synonym: "BEAULIEU-BOYCOTT-Innes syndrome" RELATED [MONDO:Lexical, OMIM:613680]
synonym: "Beaulieu-Boycott-Innes syndrome" EXACT [Orphanet:363444]
synonym: "microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations" RELATED [OMIM:613680]
synonym: "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" RELATED DEPRECATED [OMIM:613680]
xref: GARD:17558 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:363444", source="Orphanet:363444/attributed", source="Orphanet:363444/ntbt"}
xref: MEDGEN:462289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613680 {source="MONDO:equivalentTo", source="Orphanet:363444", source="Orphanet:363444/e"}
xref: Orphanet:363444 {source="MONDO:equivalentTo", source="OMIM:613680"}
xref: UMLS:C3150939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462289"}
is_a: MONDO:0015159 {source="Orphanet:363444"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363444", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28369 {source="MONDO:mim2gene_medgen"} ! THOC6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013363
name: chromosome 2q31.1 duplication syndrome
subset: gard_rare {source="GARD:15688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294026"}
subset: ordo_malformation_syndrome {source="Orphanet:294026"}
subset: orphanet_rare {source="Orphanet:294026"}
subset: rare
synonym: "2q31.1 microduplication syndrome" EXACT [MONDO:0017412]
synonym: "chromosome 2q31.1 duplication syndrome" EXACT [OMIM:613681]
synonym: "dup(2)(q31.1)" EXACT [Orphanet:294026]
synonym: "mesomelic dysplasia, 2Q31.1 Duplication-related" RELATED [OMIM:613681]
synonym: "trisomy 2q31.1" EXACT [Orphanet:294026]
xref: DOID:0060458 {source="MONDO:equivalentTo"}
xref: GARD:15688 {source="MONDO:GARD"}
xref: MEDGEN:462290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613681 {source="MONDO:equivalentTo", source="DOID:0060458"}
xref: Orphanet:1836 {source="OMIM:613681"}
xref: Orphanet:294026 {source="MONDO:equivalentTo"}
xref: UMLS:C3150940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462290"}
is_a: MONDO:0000762 {source="DC-OMIM:613681", source="DOID:0060458"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0007977 {source="Orphanet:1836/btnt"} ! mesomelic dysplasia, Kantaputra type
is_a: MONDO:0016953 {source="Orphanet:294026"} ! partial duplication of the long arm of chromosome 2
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr2q31.1 ! 2q31.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4278" xsd:anyURI

[Term]
id: MONDO:0013364
name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
def: "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17535", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:353284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EP300 Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "RSTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613684]
synonym: "Rubinstein-Taybi syndrome 2" RELATED [MONDO:Lexical, OMIM:613684]
synonym: "Rubinstein-Taybi syndrome caused by mutation in EP300" EXACT []
synonym: "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" EXACT CLINGEN_LABEL []
synonym: "Rubinstein-Taybi syndrome type 2" EXACT [MONDORULE:1, OMIM:613684]
xref: GARD:17535 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:353284/attributed", source="Orphanet:353284/ntbt", source="Orphanet:353284"}
xref: MEDGEN:462291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C153291 {source="MONDO:equivalentTo"}
xref: OMIM:613684 {source="Orphanet:353284/e", source="MONDO:equivalentTo", source="Orphanet:353284"}
xref: Orphanet:353284 {source="OMIM:613684", source="MONDO:equivalentTo"}
xref: Orphanet:783 {source="OMIM:613684"}
xref: UMLS:C3150941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462291"}
is_a: MONDO:0019188 {source="DC-OMIM:613684", source="OMIM:613684", source="Orphanet:353284"} ! Rubinstein-Taybi syndrome
intersection_of: MONDO:0019188 ! Rubinstein-Taybi syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3373 ! EP300
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613684"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3373 {source="MONDO:mim2gene_medgen"} ! EP300
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013365
name: autosomal recessive nonsyndromic hearing loss 83
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2." [DOID:0110528]
subset: gard_rare {source="GARD:22637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 83" NARROW [DOID:0110528]
synonym: "autosomal recessive nonsyndromic deafness 83" NARROW [OMIM:613685]
synonym: "autosomal recessive nonsyndromic deafness type 83" NARROW [DOID:0110528, MONDORULE:2]
synonym: "deafness, autosomal recessive 83" NARROW [MONDO:Lexical, OMIM:613685, OMIM:genemap2]
synonym: "DFNB83" NARROW ABBREVIATION [DOID:0110528, MONDO:Lexical, OMIM:613685]
xref: DOID:0110528 {source="MONDO:equivalentTo"}
xref: GARD:22637 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110528"}
xref: MEDGEN:854856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613685 {source="MONDO:equivalentTo", source="DOID:0110528"}
xref: UMLS:C3888310 {source="MEDGEN:854856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:613685", source="DOID:0110528", source="OMIM:613685"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013366
name: spondylocostal dysostosis 4, autosomal recessive
def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4976", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in HES7" EXACT []
synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in Hes7" EXACT [MONDO:design_pattern]
synonym: "HES7 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Hes7 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:design_pattern]
synonym: "SCDO4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613686]
synonym: "spondylocostal dysostosis 4" RELATED [GARD:0004976]
synonym: "spondylocostal dysostosis 4, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613686]
xref: DOID:0112364 {source="MONDO:equivalentTo"}
xref: GARD:4976 {source="MONDO:GARD"}
xref: MEDGEN:462292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613686 {source="MONDO:equivalentTo"}
xref: Orphanet:2311 {source="OMIM:613686"}
xref: UMLS:C3150942 {source="MEDGEN:462292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:613686"} ! spondylocostal dysostosis
is_a: MONDO:0010180 {source="MONDO:Redundant", source="OMIM:613686", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis
intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15977 ! HES7
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15977 {source="MONDO:mim2gene_medgen"} ! HES7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013367
name: long QT syndrome 2
def: "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." [NCIT:C137957]
subset: gard_rare {source="GARD:3285", source="MONDO:GARD"}
subset: rare
synonym: "long QT syndrome 1/2, digenic" RELATED [OMIM:613688]
synonym: "long QT syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613688]
synonym: "long QT syndrome 2, acquired, susceptibility to" RELATED [OMIM:613688]
synonym: "long QT syndrome 2/3, digenic" RELATED [OMIM:613688]
synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613688]
synonym: "long QT syndrome 2/9, digenic" RELATED [OMIM:613688]
synonym: "long QT syndrome type 2" EXACT [DOID:0110645, MONDORULE:1, OMIM:613688]
synonym: "Long QT syndrome, acquired, reduced susceptibility to" EXACT [OMIM:613688, OMIM:genemap2]
synonym: "LQT2" EXACT ABBREVIATION [DOID:0110645, MONDO:Lexical, OMIM:613688]
xref: DOID:0110645 {source="MONDO:equivalentTo"}
xref: GARD:3285 {source="MONDO:GARD"}
xref: HGNC:6251 {source="GARD:0003285"}
xref: ICD10CM:I45.8 {source="DOID:0110645"}
xref: MEDGEN:462293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563614 {source="MONDO:equivalentTo"}
xref: NCIT:C137957 {source="MONDO:equivalentTo"}
xref: OMIM:613688 {source="DOID:0110645", source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="OMIM:613688", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:613688"}
xref: UMLS:C3150943 {source="MEDGEN:462293", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019171 {source="OMIM:613688", source="Orphanet:101016-prototype"} ! familial long QT syndrome
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110645", source="MESH:C563614", source="NCIT:C137957", source="OMIM:613688", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6251 {source="https://orcid.org/0000-0003-0148-9787"} ! KCNH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6236" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2" xsd:anyURI {source="GARD:0003285"}

[Term]
id: MONDO:0013368
name: mammary-digital-nail syndrome
def: "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." [Orphanet:238744]
subset: gard_rare {source="GARD:17180", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238744"}
subset: ordo_malformation_syndrome {source="Orphanet:238744"}
subset: orphanet_rare {source="Orphanet:238744"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mammary-digital-nail syndrome" EXACT [MONDO:Lexical, OMIM:613689]
synonym: "MDN syndrome" EXACT [Orphanet:238744]
synonym: "MDNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613689]
synonym: "onycho-digito-mammary syndrome" EXACT [Orphanet:238744]
xref: GARD:17180 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:238744/attributed", source="Orphanet:238744/ntbt", source="Orphanet:238744"}
xref: MEDGEN:462296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613689 {source="Orphanet:238744", source="MONDO:equivalentTo", source="Orphanet:238744/e"}
xref: Orphanet:238744 {source="MONDO:equivalentTo", source="OMIM:613689"}
xref: SCTID:718679004 {source="MONDO:equivalentTo"}
xref: UMLS:C3150946 {source="MEDGEN:462296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="MONDO:Redundant", source="Orphanet:238744"} ! female reproductive system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015980"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013369
name: hypertrophic cardiomyopathy 7
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, familial hypertrophic 7" EXACT [DOID:0110313]
synonym: "cardiomyopathy, familial hypertrophic, 7" RELATED [MONDO:Lexical, OMIM:613690]
synonym: "cardiomyopathy, familial hypertrophic, type 7" EXACT [MONDORULE:1, OMIM:613690]
synonym: "cardiomyopathy, hypertrophic, 7" EXACT [OMIM:613690, OMIM:genemap2]
synonym: "CMH7" EXACT ABBREVIATION [DOID:0110313, MONDO:Lexical, OMIM:613690]
synonym: "hypertrophic cardiomyopathy 7" EXACT CLINGEN_LABEL []
synonym: "hypertrophic cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 7" EXACT [DOID:0110313, MONDORULE:1]
synonym: "TNNI3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110313 {source="MONDO:equivalentTo"}
xref: MEDGEN:348695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613690 {source="DOID:0110313", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:613690"}
xref: UMLS:C1860752 {source="MEDGEN:348695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:613690", source="DOID:0110313", source="MONDO:Redundant", source="OMIM:613690", source="OMIM:613690/inferred"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613690"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 ! TNNI3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013370
name: long QT syndrome 6
def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10434", source="MONDO:GARD"}
subset: rare
synonym: "KCNE2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:613693]
synonym: "long QT syndrome 6" EXACT [MONDO:Lexical, OMIM:613693]
synonym: "long QT syndrome 6, acquired, susceptibility to" RELATED [OMIM:613693]
synonym: "long QT syndrome caused by mutation in KCNE2" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 6" EXACT [DOID:0110648, MONDORULE:1, OMIM:613693]
synonym: "LQT6" EXACT ABBREVIATION [DOID:0110648, MONDO:Lexical, OMIM:613693]
xref: DOID:0110648 {source="MONDO:equivalentTo"}
xref: GARD:10434 {source="MONDO:GARD"}
xref: HGNC:6242 {source="GARD:0010434"}
xref: ICD10CM:I45.8 {source="DOID:0110648"}
xref: MEDGEN:462303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566333 {source="MONDO:equivalentTo"}
xref: OMIM:613693 {source="DOID:0110648", source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="MONDO:directSiblingOf", source="OMIM:613693"}
xref: Orphanet:768 {source="OMIM:613693"}
xref: UMLS:C3150953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462303"}
is_a: MONDO:0019171 {source="OMIM:613693", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6242 ! KCNE2
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110648", source="MESH:C566333", source="OMIM:613693", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6242 {source="MONDO:mim2gene_medgen"} ! KCNE2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6" xsd:anyURI {source="GARD:0010434"}

[Term]
id: MONDO:0013371
name: dilated cardiomyopathy 1U
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1U" RELATED [MONDO:Lexical, OMIM:613694]
synonym: "cardiomyopathy, dilated, type 1U" EXACT [MONDORULE:4, OMIM:613694]
synonym: "CMD1U" EXACT ABBREVIATION [DOID:0110455, MONDO:Lexical, OMIM:613694]
synonym: "dilated cardiomyopathy type 1U" EXACT [DOID:0110455, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN1" EXACT [MONDO:design_pattern]
synonym: "PSEN1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110455 {source="MONDO:equivalentTo"}
xref: GARD:15689 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110455"}
xref: MEDGEN:463620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566296 {source="MONDO:equivalentTo"}
xref: OMIM:613694 {source="MONDO:equivalentTo", source="DOID:0110455"}
xref: Orphanet:154 {source="OMIM:613694"}
xref: UMLS:C3160720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463620"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613694"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 {source="MONDO:mim2gene_medgen"} ! PSEN1

[Term]
id: MONDO:0013372
name: long QT syndrome 5
def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KCNE1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613695]
synonym: "long QT syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613695]
synonym: "long QT syndrome 5, acquired, susceptibility to" RELATED [OMIM:613695]
synonym: "long QT syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 5" EXACT [DOID:0110647, MONDORULE:1, OMIM:613695]
synonym: "LQT5" EXACT ABBREVIATION [DOID:0110647, MONDO:Lexical, OMIM:613695]
xref: DOID:0110647 {source="MONDO:equivalentTo"}
xref: GARD:10433 {source="MONDO:GARD"}
xref: HGNC:6240 {source="GARD:0010433"}
xref: ICD10CM:I45.8 {source="DOID:0110647"}
xref: MEDGEN:358092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566766 {source="MONDO:equivalentTo"}
xref: NCIT:C172094 {source="MONDO:equivalentTo"}
xref: OMIM:613695 {source="DOID:0110647", source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="OMIM:613695", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:613695"}
xref: UMLS:C1867904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358092"}
is_a: MONDO:0019171 {source="OMIM:613695", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6240 ! KCNE1
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110647", source="MESH:C566766", source="OMIM:613695", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6240 {source="MONDO:mim2gene_medgen"} ! KCNE1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5" xsd:anyURI {source="GARD:0010433"}

[Term]
id: MONDO:0013373
name: dilated cardiomyopathy 1V
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1V" RELATED [MONDO:Lexical, OMIM:613697]
synonym: "cardiomyopathy, dilated, type 1V" EXACT [MONDORULE:4, OMIM:613697]
synonym: "CMD1V" EXACT ABBREVIATION [DOID:0110427, MONDO:Lexical, OMIM:613697]
synonym: "dilated cardiomyopathy type 1V" EXACT [DOID:0110427, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN2" EXACT [MONDO:design_pattern]
synonym: "PSEN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110427 {source="MONDO:equivalentTo"}
xref: GARD:15690 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110427"}
xref: MEDGEN:462308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566856 {source="MONDO:equivalentTo"}
xref: OMIM:613697 {source="DOID:0110427", source="MONDO:equivalentTo"}
xref: UMLS:C3150958 {source="MEDGEN:462308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613697"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9509 {source="MONDO:mim2gene_medgen"} ! PSEN2

[Term]
id: MONDO:0013374
name: supernumerary der(22)t(8;22) syndrome
synonym: "supernumerary der(22)t(8-22) syndrome" EXACT [OMIM:613700, OMIM:genemap2]
synonym: "supernumerary der(22)t(8;22) syndrome" EXACT [OMIM:613700]
xref: OMIM:613700 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013375
name: Klippel-Feil syndrome 3, autosomal dominant
def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15691", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDF3 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF3" EXACT [MONDO:design_pattern]
synonym: "KFS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613702]
synonym: "Klippel-FEIL syndrome 3, autosomal dominant" RELATED [OMIM:613702]
synonym: "Klippel-Feil syndrome 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613702]
xref: DOID:0080591 {source="MONDO:equivalentTo"}
xref: GARD:15691 {source="MONDO:GARD"}
xref: MEDGEN:462317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613702 {source="MONDO:equivalentTo"}
xref: Orphanet:2345 {source="OMIM:613702"}
xref: UMLS:C3150967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462317"}
is_a: MONDO:0001029 {source="MONDO:Redundant", source="OMIM:613702", source="OMIM:613702/inferred"} ! Klippel-Feil syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4218 {source="MONDO:mim2gene_medgen"} ! GDF3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013376
name: microphthalmia, isolated, with coloboma 6
subset: gard_rare {source="GARD:15692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPCB6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613703]
synonym: "microphthalmia with coloboma 6" EXACT [OMIM:613703, OMIM:genemap2]
synonym: "microphthalmia with coloboma 6, digenic" EXACT [OMIM:613703, OMIM:genemap2]
synonym: "microphthalmia, isolated, with coloboma 6" EXACT [MONDO:Lexical, OMIM:613703]
synonym: "microphthalmia, isolated, with coloboma type 6" EXACT [MONDORULE:1, OMIM:613703]
xref: GARD:15692 {source="MONDO:GARD"}
xref: MEDGEN:462318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613703 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:613703"}
xref: UMLS:C3150968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462318"}
is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:613703", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013377
name: isolated microphthalmia 7
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDF3 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated microphthalmia caused by mutation in GDF3" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 7" EXACT [DOID:0060838, MONDORULE:1]
synonym: "MCOP7" EXACT ABBREVIATION [DOID:0060838, MONDO:Lexical, OMIM:613704]
synonym: "microphthalmia, isolated 7" RELATED [MONDO:Lexical, OMIM:613704]
synonym: "microphthalmia, isolated type 7" EXACT [MONDORULE:1, OMIM:613704]
xref: DOID:0060838 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q11.0 {source="DOID:0060838"}
xref: MEDGEN:462319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613704 {source="MONDO:equivalentTo", source="DOID:0060838"}
xref: Orphanet:2542 {source="OMIM:613704", source="DOID:0060838"}
xref: UMLS:C3150969 {source="MEDGEN:462319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000062 {source="DC-OMIM:613704", source="MONDO:Redundant", source="OMIM:613704"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4218 ! GDF3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4218 {source="MONDO:mim2gene_medgen"} ! GDF3

[Term]
id: MONDO:0013378
name: orofacial cleft 10
def: "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18306", source="MONDO:GARD"}
subset: rare
synonym: "cleft lip with or without cleft palate, nonsyndromic, 10" RELATED [OMIM:613705]
synonym: "OFC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613705]
synonym: "orofacial cleft 10" EXACT [MONDO:Lexical, OMIM:613705]
synonym: "orofacial cleft 10, isolated cases" EXACT [OMIM:613705, OMIM:genemap2]
synonym: "orofacial cleft caused by mutation in SUMO1" EXACT [MONDO:design_pattern]
synonym: "orofacial cleft type 10" EXACT [MONDORULE:2, OMIM:613705]
synonym: "SUMO1 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080403 {source="MONDO:equivalentTo"}
xref: GARD:18306 {source="MONDO:GARD"}
xref: MEDGEN:355621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566605 {source="MONDO:equivalentTo"}
xref: OMIM:613705 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:613705"}
xref: UMLS:C1866070 {source="MEDGEN:355621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:613705"} ! orofacial cleft
is_a: MONDO:0016044 {source="Orphanet:199306/btnt"} ! cleft lip/palate
intersection_of: MONDO:0000358 ! orofacial cleft
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12502 ! SUMO1
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12502 {source="MONDO:mim2gene_medgen"} ! SUMO1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013379
name: Noonan syndrome 7
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BRAF Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Noonan syndrome 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613706]
synonym: "Noonan syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 7" EXACT [DOID:0060585, MONDORULE:1, OMIM:613706]
synonym: "NS7" EXACT ABBREVIATION [DOID:0060585, MONDO:Lexical, OMIM:613706]
xref: DOID:0060585 {source="MONDO:equivalentTo"}
xref: GARD:15693 {source="MONDO:GARD"}
xref: MEDGEN:462320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176935 {source="MONDO:equivalentTo"}
xref: OMIM:613706 {source="DOID:0060585", source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:613706"}
xref: UMLS:C3150970 {source="MONDO:equivalentTo", source="MEDGEN:462320", source="MONDO:MEDGEN"}
is_a: MONDO:0018997 {source="DC-OMIM:613706", source="DOID:0060585", source="MONDO:Redundant", source="OMIM:613706"} ! Noonan syndrome
intersection_of: MONDO:0018997 ! Noonan syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 ! BRAF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 {source="MONDO:mim2gene_medgen"} ! BRAF

[Term]
id: MONDO:0013380
name: LEOPARD syndrome 3
def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BRAF Noonan syndrome with multiple lentigines" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LEOPARD syndrome 3" EXACT CLINGEN_LABEL [OMIM:613707]
synonym: "leopard syndrome 3" EXACT [MONDO:Lexical, OMIM:613707]
synonym: "Leopard syndrome type 3" EXACT [MONDORULE:1, OMIM:613707]
synonym: "LPRD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613707]
synonym: "Noonan syndrome with multiple lentigines caused by mutation in BRAF" EXACT [MONDO:design_pattern]
xref: DOID:0080550 {source="MONDO:equivalentTo"}
xref: GARD:15694 {source="MONDO:GARD"}
xref: MEDGEN:462321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613707 {source="MONDO:equivalentTo"}
xref: Orphanet:500 {source="OMIM:613707"}
xref: UMLS:C3150971 {source="MEDGEN:462321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007893 {source="MONDO:Redundant", source="OMIM:613707", source="Orphanet:500/btnt"} ! Noonan syndrome with multiple lentigines
intersection_of: MONDO:0007893 ! Noonan syndrome with multiple lentigines
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 ! BRAF
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613707"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 {source="MONDO:mim2gene_medgen"} ! BRAF

[Term]
id: MONDO:0013381
name: neuropathy, hereditary sensory, type 1D
def: "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q." [DOID:0070156]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary sensory neuropathy type 1D" RELATED [DOID:0070156]
synonym: "hereditary sensory neuropathy type ID" RELATED [DOID:0070156]
synonym: "HSN1D" EXACT ABBREVIATION [DOID:0070156, MONDO:Lexical, OMIM:613708]
synonym: "neuropathy, hereditary sensory, type ID" RELATED [MONDO:Lexical, OMIM:613708]
xref: DOID:0070156 {source="MONDO:equivalentTo"}
xref: GARD:15695 {source="MONDO:GARD"}
xref: MEDGEN:462322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613708 {source="DOID:0070156", source="MONDO:equivalentTo"}
xref: Orphanet:36386 {source="OMIM:613708"}
xref: UMLS:C3150972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462322"}
is_a: MONDO:0018213 {source="DOID:0070156", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11231 {source="MONDO:mim2gene_medgen"} ! ATL1

[Term]
id: MONDO:0013382
name: progressive demyelinating neuropathy with bilateral striatal necrosis
def: "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities." [Orphanet:217396]
subset: gard_rare {source="GARD:17123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217396"}
subset: orphanet_rare {source="Orphanet:217396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral striatal Degeneration and progressive polyneuropathy" RELATED [OMIM:613710]
synonym: "progressive polyneuropathy with bilateral striatal necrosis" RELATED [Orphanet:217396]
synonym: "striatal Necrosis, bilateral, and progressive polyneuropathy" RELATED [OMIM:613710]
synonym: "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" RELATED [MONDO:Lexical, OMIM:613710]
synonym: "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)" EXACT [OMIM:613710, OMIM:genemap2]
synonym: "THMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613710]
xref: GARD:17123 {source="MONDO:GARD"}
xref: MEDGEN:462323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613710 {source="Orphanet:217396/e", source="MONDO:equivalentTo", source="Orphanet:217396"}
xref: Orphanet:217396 {source="OMIM:613710", source="MONDO:equivalentTo"}
xref: UMLS:C3150973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462323"}
is_a: MONDO:0000152 {source="DC-OMIM:613710", source="OMIM:613710"} ! thiamine-responsive dysfunction syndrome
is_a: MONDO:0020127 {source="Orphanet:217396"} ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14409 {source="MONDO:mim2gene_medgen"} ! SLC25A19
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013383
name: Hirschsprung disease, susceptibility to, 3
subset: predisposition
synonym: "GDNF Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hirschsprung disease caused by mutation in GDNF" EXACT [MONDO:design_pattern]
synonym: "Hirschsprung disease modifier" RELATED [GARD:0002699]
synonym: "Hirschsprung disease type 3" RELATED [GARD:0002699]
synonym: "Hirschsprung disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613711]
synonym: "Hirschsprung disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613711]
synonym: "HSCR3" RELATED ABBREVIATION [GARD:0002699, MONDO:Lexical, OMIM:613711]
synonym: "susceptibility to Hirschsprung disease 3" RELATED [OMIM:613711]
xref: MEDGEN:462324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538121 {source="MONDO:equivalentTo"}
xref: OMIM:613711 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:613711"}
xref: UMLS:C3150974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462324"}
is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to
intersection_of: MONDO:0100179 ! Hirschsprung disease, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4232 ! GDNF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4232 {source="MONDO:mim2gene_medgen"} ! GDNF
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2699/hirschsprung-disease-type-3" xsd:anyURI {source="GARD:0002699"}

[Term]
id: MONDO:0013384
name: Hirschsprung disease, susceptibility to, 4
def: "An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "EDN3 Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hirschsprung disease caused by mutation in EDN3" EXACT [MONDO:design_pattern]
synonym: "Hirschsprung disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:613712]
synonym: "Hirschsprung disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:613712]
synonym: "HSCR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613712]
synonym: "susceptibility to Hirschsprung disease 4" RELATED [OMIM:613712]
xref: MEDGEN:462325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613712 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="OMIM:613712"}
xref: UMLS:C3150975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462325"}
is_a: MONDO:0100179 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease, susceptibility to
intersection_of: MONDO:0100179 ! Hirschsprung disease, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3178 ! EDN3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3178 {source="MONDO:mim2gene_medgen"} ! EDN3

[Term]
id: MONDO:0013385
name: Treacher Collins syndrome 2
def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POLR1D Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613717]
synonym: "TREACHER COLLINS syndrome 2" RELATED [OMIM:613717]
synonym: "Treacher Collins syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613717]
synonym: "Treacher Collins syndrome type 2" EXACT [MONDORULE:1, OMIM:613717]
synonym: "Treacher-Collins syndrome caused by mutation in POLR1D" EXACT [MONDO:design_pattern]
xref: DOID:0080790 {source="MONDO:equivalentTo"}
xref: GARD:15698 {source="MONDO:GARD"}
xref: MEDGEN:462333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613717 {source="MONDO:equivalentTo"}
xref: Orphanet:861 {source="OMIM:613717"}
xref: UMLS:C3150983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462333"}
is_a: MONDO:0002457 {source="MONDO:Redundant", source="OMIM:613717"} ! Treacher-Collins syndrome
intersection_of: MONDO:0002457 ! Treacher-Collins syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20422 ! POLR1D
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613717"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20422 {source="MONDO:mim2gene_medgen"} ! POLR1D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013386
name: autosomal recessive nonsyndromic hearing loss 74
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 74" NARROW [DOID:0110523]
synonym: "autosomal recessive nonsyndromic deafness 74" NARROW [OMIM:613718]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 74" NARROW [DOID:0110523, MONDORULE:2]
synonym: "deafness, autosomal recessive 74" NARROW [MONDO:Lexical, OMIM:613718, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 74" NARROW [MONDORULE:2, OMIM:613718]
synonym: "DFNB74" NARROW ABBREVIATION [DOID:0110523, MONDO:Lexical, OMIM:613718]
synonym: "MSRB3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110523 {source="MONDO:equivalentTo"}
xref: GARD:22638 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110523"}
xref: MEDGEN:453237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613718 {source="DOID:0110523", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:613718"}
xref: UMLS:C2239351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:453237"}
is_a: MONDO:0019588 {source="DC-OMIM:613718", source="DOID:0110523", source="MONDO:Redundant", source="OMIM:613718"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27375 ! MSRB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27375 {source="MONDO:mim2gene_medgen"} ! MSRB3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013387
name: developmental and epileptic encephalopathy, 7
def: "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." [Orphanet:439218]
subset: gard_rare {source="GARD:13060", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439218"}
subset: orphanet_rare {source="Orphanet:439218"}
subset: rare
synonym: "DEE7" EXACT ABBREVIATION [OMIM:613720]
synonym: "developmental and epileptic encephalopathy 7" EXACT [OMIM:613720, OMIM:genemap2]
synonym: "EIEE7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613720]
synonym: "epileptic encephalopathy, early infantile, 7" EXACT [MONDO:Lexical, OMIM:613720]
synonym: "epileptic encephalopathy, early infantile, type 7" EXACT [MONDORULE:1, OMIM:613720]
synonym: "KCNQ2-NEE" EXACT [Orphanet:439218]
synonym: "KCNQ2-related disorders" RELATED [GARD:0013060]
synonym: "KCNQ2-related epileptic encephalopathy" EXACT [Orphanet:439218]
synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [Orphanet:439218]
xref: DOID:0080462 {source="MONDO:equivalentTo"}
xref: GARD:13060 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:439218", source="Orphanet:439218/attributed", source="Orphanet:439218/ntbt"}
xref: MEDGEN:462336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613720 {source="Orphanet:439218", source="MONDO:equivalentTo", source="Orphanet:439218/e"}
xref: Orphanet:439218 {source="MONDO:equivalentTo"}
xref: UMLS:C3150986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462336"}
is_a: MONDO:0100062 {source="DC-OMIM:613720", source="OMIM:613720"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6296 {source="MONDO:mim2gene_medgen"} ! KCNQ2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013388
name: developmental and epileptic encephalopathy, 11
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE11" EXACT ABBREVIATION [OMIM:613721]
synonym: "developmental and epileptic encephalopathy 11" EXACT [OMIM:613721, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in SCN2A" EXACT [MONDO:design_pattern]
synonym: "EIEE11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613721]
synonym: "epileptic encephalopathy, early infantile, 11" EXACT [MONDO:Lexical, OMIM:613721]
synonym: "epileptic encephalopathy, early infantile, type 11" EXACT [MONDORULE:2, OMIM:613721]
synonym: "SCN2A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080421 {source="MONDO:equivalentTo"}
xref: GARD:15699 {source="MONDO:GARD"}
xref: MEDGEN:462337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613721 {source="MONDO:equivalentTo"}
xref: UMLS:C3150987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462337"}
is_a: MONDO:0100062 {source="DC-OMIM:613721", source="MONDO:Redundant", source="OMIM:613721"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 ! SCN2A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 {source="MONDO:mim2gene_medgen"} ! SCN2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013389
name: developmental and epileptic encephalopathy, 12
def: "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12]
subset: gard_rare {source="GARD:13318", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE12" EXACT ABBREVIATION [OMIM:613722]
synonym: "developmental and epileptic encephalopathy 12" EXACT [OMIM:613722, OMIM:genemap2]
synonym: "developmental and epileptic encephalopathy, 12" EXACT CLINGEN_LABEL []
synonym: "early infantile epileptic encephalopathy 12" EXACT [GARD:0013318]
synonym: "early infantile epileptic encephalopathy caused by mutation in PLCB1" EXACT [MONDO:design_pattern]
synonym: "EIEE12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613722]
synonym: "epileptic encephalopathy, early infantile, 12" EXACT [MONDO:Lexical, OMIM:613722]
synonym: "epileptic encephalopathy, early infantile, type 12" EXACT [MONDORULE:2, OMIM:613722]
synonym: "PLCB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080459 {source="MONDO:equivalentTo"}
xref: GARD:13318 {source="MONDO:GARD"}
xref: MEDGEN:462338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613722 {source="MONDO:equivalentTo"}
xref: Orphanet:293181 {source="OMIM:613722"}
xref: Orphanet:3451 {source="OMIM:613722"}
xref: UMLS:C3150988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462338"}
is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partial seizures of infancy
is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome
is_a: MONDO:0100062 {source="DC-OMIM:613722", source="MONDO:Redundant", source="OMIM:613722"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15917 ! PLCB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15917 {source="MONDO:mim2gene_medgen"} ! PLCB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12" xsd:anyURI {source="GARD:0013318"}

[Term]
id: MONDO:0013390
name: autosomal recessive limb-girdle muscular dystrophy type 2Q
def: "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." [Orphanet:254361]
subset: gard_rare {source="GARD:12542", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254361"}
subset: orphanet_rare {source="Orphanet:254361"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [DOID:0110285, Orphanet:254361]
synonym: "LGMD2Q" EXACT ABBREVIATION [DOID:0110285, MONDO:Lexical, OMIM:613723, Orphanet:254361]
synonym: "limb-girdle muscular dystrophy type 2Q" RELATED [GARD:0012542]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 17" EXACT [OMIM:613723, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2Q" EXACT [DOID:0110285, MONDO:Lexical, OMIM:613723]
xref: DOID:0110285 {source="MONDO:equivalentTo"}
xref: GARD:12542 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:254361/attributed", source="Orphanet:254361/ntbt", source="DOID:0110285", source="Orphanet:254361"}
xref: MEDGEN:462339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613723 {source="Orphanet:254361/e", source="MONDO:equivalentTo", source="DOID:0110285", source="Orphanet:254361"}
xref: Orphanet:254361 {source="MONDO:equivalentTo", source="OMIM:613723", source="DOID:0110285"}
xref: UMLS:C3150989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462339"}
is_a: MONDO:0015152 {source="DOID:0110285", source="OMIM:613723", source="Orphanet:254361"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016198 {source="Orphanet:254361"} ! qualitative or quantitative defects of plectin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013391
name: sterol carrier protein 2 deficiency
def: "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." [Orphanet:163684]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12471", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163684"}
subset: orphanet_rare {source="Orphanet:163684"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukoencephalopathy - dystonia - motor neuropathy" RELATED [GARD:0012471]
synonym: "leukoencephalopathy with dystonia and motor neuropathy" RELATED [OMIM:613724]
synonym: "leukoencephalopathy-dystonia-motor neuropathy syndrome" EXACT [Orphanet:163684]
synonym: "LKDMN" RELATED ABBREVIATION [OMIM:613724]
synonym: "SCP2 deficiency" EXACT [OMIM:613724]
synonym: "sterol carrier protein 2 deficiency" EXACT CLINGEN_LABEL [Orphanet:163684]
xref: GARD:12471 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:163684", source="Orphanet:163684/attributed", source="Orphanet:163684/ntbt"}
xref: MEDGEN:462340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200767 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613724 {source="MONDO:equivalentTo", source="Orphanet:163684", source="Orphanet:163684/e"}
xref: Orphanet:163684 {source="MONDO:equivalentTo", source="OMIM:613724"}
xref: UMLS:C3150990 {source="MEDGEN:462340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="Orphanet:163684"} ! leukodystrophy
is_a: MONDO:0019233 {source="Orphanet:163684", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10606 {source="MONDO:mim2gene_medgen"} ! SCP2

[Term]
id: MONDO:0013392
name: autosomal recessive spinocerebellar ataxia 10
def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17314", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284289"}
subset: orphanet_rare {source="Orphanet:284289"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset autosomal recessive cerebellar ataxia" RELATED [Orphanet:284289]
synonym: "ANO10 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive cerebellar ataxia caused by mutation in ANO10" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 10" EXACT [DOID:0050999, MONDORULE:2, Orphanet:284289]
synonym: "SCAR10" EXACT ABBREVIATION [DOID:0050999, MONDO:Lexical, OMIM:613728, Orphanet:284289]
synonym: "spinocerebellar ataxia, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:613728]
synonym: "spinocerebellar ataxia, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:613728]
xref: DOID:0050999 {source="MONDO:equivalentTo"}
xref: GARD:17314 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:284289", source="Orphanet:284289/attributed", source="Orphanet:284289/ntbt"}
xref: MEDGEN:462348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613728 {source="MONDO:equivalentTo", source="Orphanet:284289", source="DOID:0050999", source="Orphanet:284289/e"}
xref: Orphanet:284289 {source="MONDO:equivalentTo", source="OMIM:613728"}
xref: UMLS:C3150998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462348"}
is_a: MONDO:0015244 {source="DOID:0050999", source="MONDO:Redundant", source="Orphanet:284289"} ! autosomal recessive cerebellar ataxia
intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25519 ! ANO10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25519 {source="MONDO:mim2gene_medgen"} ! ANO10

[Term]
id: MONDO:0013393
name: distal 7q11.23 microdeletion syndrome
def: "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)." [Orphanet:254351]
subset: gard_rare {source="GARD:17218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254351"}
subset: ordo_malformation_syndrome {source="Orphanet:254351"}
subset: orphanet_rare {source="Orphanet:254351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2-MB" RELATED [OMIM:613729]
synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" EXACT [OMIM:613729, OMIM:genemap2]
synonym: "distal chromosome 7Q11.23 deletion syndrome" RELATED [OMIM:613729]
synonym: "distal del(7)(q11.23)" EXACT [Orphanet:254351]
synonym: "distal monosomy 7q11.23" EXACT [Orphanet:254351]
xref: GARD:17218 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:254351", source="Orphanet:254351/attributed", source="Orphanet:254351/ntbt"}
xref: MEDGEN:462349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613729 {source="Orphanet:254351", source="MONDO:equivalentTo", source="Orphanet:254351/e"}
xref: Orphanet:254351 {source="MONDO:equivalentTo", source="OMIM:613729"}
xref: UMLS:C3150999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462349"}
is_a: MONDO:0000761 {source="DC-OMIM:613729"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016906 {source="Orphanet:254351"} ! partial deletion of the long arm of chromosome 7
relationship: disease_arises_from_structure CHR:9606-chr7q11.23 {source="https://orcid.org/0000-0002-4142-7153"} ! 7q11.23 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013394
name: porencephaly-microcephaly-bilateral congenital cataract syndrome
subset: gard_rare {source="GARD:17380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306547"}
subset: ordo_malformation_syndrome {source="Orphanet:306547"}
subset: orphanet_rare {source="Orphanet:306547"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HDBSCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613730]
synonym: "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" RELATED [MONDO:Lexical, OMIM:613730]
synonym: "porencephaly-microcephaly-bilateral congenital cataract syndrome" EXACT CLINGEN_LABEL []
xref: GARD:17380 {source="MONDO:GARD"}
xref: MEDGEN:462350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613730 {source="Orphanet:306547", source="MONDO:equivalentTo", source="Orphanet:306547/e"}
xref: Orphanet:306547 {source="OMIM:613730", source="MONDO:equivalentTo"}
xref: UMLS:C3151000 {source="MEDGEN:462350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:306547", source="Orphanet:306547/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15532 {source="MONDO:mim2gene_medgen"} ! JAM3

[Term]
id: MONDO:0013395
name: retinitis pigmentosa 4
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10405", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 4" EXACT [MONDO:Lexical, OMIM:613731]
synonym: "retinitis pigmentosa 4, autosomal dominant or recessive" EXACT [OMIM:613731, OMIM:genemap2]
synonym: "retinitis pigmentosa caused by mutation in RHO" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 4" EXACT [DOID:0110372, MONDORULE:1, OMIM:613731]
synonym: "retinitis pigmentosa, rhodopsin-related" RELATED [OMIM:613731]
synonym: "RHO retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RP 4" RELATED [GARD:0010405]
synonym: "RP4" EXACT ABBREVIATION [DOID:0110372, MONDO:Lexical, OMIM:613731]
xref: DOID:0110372 {source="MONDO:equivalentTo"}
xref: GARD:10405 {source="MONDO:GARD"}
xref: HGNC:10012 {source="GARD:0010405"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110372"}
xref: MEDGEN:462351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566706 {source="MONDO:equivalentTo"}
xref: OMIM:613731 {source="MONDO:equivalentTo", source="DOID:0110372"}
xref: UMLS:C3151001 {source="MEDGEN:462351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:613731", source="DOID:0110372", source="MESH:C566706", source="MONDO:Redundant", source="OMIM:613731"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10012 ! RHO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10012 {source="MONDO:mim2gene_medgen"} ! RHO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10405/retinitis-pigmentosa-4" xsd:anyURI {source="GARD:0010405"}

[Term]
id: MONDO:0013396
name: chromosome 1p32-p31 deletion syndrome
def: "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." [Orphanet:401986]
subset: gard_rare {source="GARD:17668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401986"}
subset: ordo_malformation_syndrome {source="Orphanet:401986"}
subset: orphanet_rare {source="Orphanet:401986"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1p31p32 microdeletion syndrome" EXACT [DOID:0060409]
synonym: "brain malformations with or without urinary tract defects" RELATED [OMIM:613735]
synonym: "BRMUTD" RELATED ABBREVIATION [OMIM:613735]
synonym: "chromosome 1p32-p31 deletion syndrome" EXACT CLINGEN_LABEL [OMIM:613735]
synonym: "Del(1)(p31p32)" EXACT [Orphanet:401986]
synonym: "monosomy 1p31p32" EXACT [Orphanet:401986]
xref: DOID:0060409 {source="MONDO:equivalentTo"}
xref: GARD:17668 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:401986/attributed", source="Orphanet:401986/ntbt", source="Orphanet:401986", source="DOID:0060409"}
xref: MEDGEN:1392440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613735 {source="Orphanet:401986", source="MONDO:includedEntryInOMIM", source="Orphanet:401986/e", source="DOID:0060409"}
xref: Orphanet:401986 {source="MONDO:equivalentTo", source="OMIM:613735", source="DOID:0060409"}
xref: SCTID:766766005 {source="MONDO:equivalentTo"}
xref: UMLS:C4478940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392440"}
is_a: MONDO:0000761 {source="DC-OMIM:613735", source="DOID:0060409"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015160 {source="Orphanet:401986"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016883 {source="Orphanet:401986"} ! partial deletion of the short arm of chromosome 1
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:401986", source="Orphanet:401986/inferred"} ! disorder of development or morphogenesis
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1p32-p31 ! 1p32-p31 (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7784 {source="MONDO:mim2gene_medgen"} ! NFIA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0013397
name: acne inversa, familial, 2
def: "Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acne inversa, familial, 2" EXACT [MONDO:Lexical, OMIM:613736]
synonym: "acne inversa, familial, 2, with or without Dowling-Degos disease" RELATED [OMIM:613736]
synonym: "acne inversa, familial, type 2" EXACT [MONDORULE:1, OMIM:613736]
synonym: "ACNINV2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613736]
synonym: "familial acne inversa caused by mutation in PSENEN" EXACT [MONDO:design_pattern]
synonym: "PSENEN familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:462387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613736 {source="MONDO:equivalentTo"}
xref: Orphanet:387 {source="OMIM:613736"}
xref: UMLS:C3151037 {source="MEDGEN:462387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024516 {source="MONDO:Redundant", source="OMIM:613736"} ! familial acne inversa
intersection_of: MONDO:0024516 ! familial acne inversa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30100 ! PSENEN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30100 {source="MONDO:mim2gene_medgen"} ! PSENEN

[Term]
id: MONDO:0013398
name: acne inversa, familial, 3
def: "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acne inversa, familial, 3" EXACT [MONDO:Lexical, OMIM:613737]
synonym: "acne inversa, familial, type 3" EXACT [MONDORULE:1, OMIM:613737]
synonym: "ACNINV3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613737]
synonym: "familial acne inversa caused by mutation in PSEN1" EXACT [MONDO:design_pattern]
synonym: "PSEN1 familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:462388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613737 {source="MONDO:equivalentTo"}
xref: Orphanet:387 {source="OMIM:613737"}
xref: UMLS:C3151038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462388"}
is_a: MONDO:0024516 {source="MONDO:Redundant", source="OMIM:613737"} ! familial acne inversa
intersection_of: MONDO:0024516 ! familial acne inversa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 ! PSEN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9508 {source="MONDO:mim2gene_medgen"} ! PSEN1

[Term]
id: MONDO:0013399
name: obsolete cardiomyopathy, dilated, 1T
is_obsolete: true
replaced_by: MONDO:0000911

[Term]
id: MONDO:0013400
name: Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
def: "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." [https://orcid.org/0000-0001-5208-3432, Orphanet:168558]
subset: gard_rare {source="GARD:17033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168558"}
subset: orphanet_rare {source="Orphanet:168558"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" RELATED [Orphanet:168558]
synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome" RELATED [Orphanet:168558]
synonym: "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete" EXACT [DOID:0050546, OMIM:613743]
synonym: "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" EXACT [OMIM:613743, OMIM:genemap2]
synonym: "cholesterol side-chain cleavage deficiency" EXACT [NCIT:C131422]
synonym: "p450scc deficiency" EXACT [DOID:0050546, OMIM:613743]
synonym: "XY sex reversal-adrenal failure" EXACT [Orphanet:168558]
synonym: "XY sex reversal-adrenal failure syndrome" EXACT [Orphanet:168558]
xref: DOID:0050546 {source="MONDO:equivalentTo"}
xref: GARD:17033 {source="MONDO:GARD"}
xref: ICD10CM:Q56.1 {source="Orphanet:168558", source="Orphanet:168558/attributed", source="Orphanet:168558/ntbt"}
xref: MEDGEN:462405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566130 {source="MONDO:equivalentTo"}
xref: NCIT:C131422 {source="MONDO:equivalentTo"}
xref: OMIM:613743 {source="DOID:0050546", source="MONDO:equivalentTo", source="Orphanet:168558", source="Orphanet:168558/e"}
xref: Orphanet:168558 {source="OMIM:613743", source="MONDO:equivalentTo"}
xref: UMLS:C3151055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462405"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:168558", source="Orphanet:168558/inferred"} ! adrenal gland disorder
is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development
is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:168558", source="https://orcid.org/0000-0001-5208-3432"} ! chronic primary adrenal insufficiency
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2590 {source="MONDO:mim2gene_medgen"} ! CYP11A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0013401
name: hereditary spastic paraplegia 51
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1990"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AP4E1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant spastic paraplegia 51" EXACT [DOID:0110803]
synonym: "cerebral palsy, spastic quadriplegic, 4" RELATED [OMIM:613744]
synonym: "cerebral palsy, spastic quadriplegic, 4, formerly" RELATED [OMIM:613744]
synonym: "CPSQ4" EXACT ABBREVIATION [DOID:0110803]
synonym: "hereditary spastic paraplegia caused by mutation in AP4E1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 51" EXACT [DOID:0110803, MONDORULE:2]
synonym: "Spastic Paraplegia 51" EXACT [NORD:1990]
synonym: "spastic paraplegia 51, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613744]
synonym: "spastic quadriplegic cerebral palsy 4" EXACT [DOID:0110803]
synonym: "SPG51" EXACT ABBREVIATION [DOID:0110803, MONDO:Lexical, OMIM:613744]
xref: DOID:0110803 {source="MONDO:equivalentTo"}
xref: GARD:13737 {source="MONDO:GARD"}
xref: MEDGEN:462406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1990 {source="MONDO:NORD"}
xref: OMIM:613744 {source="MONDO:equivalentTo", source="DOID:0110803"}
xref: Orphanet:280763 {source="DOID:0110803", source="OMIM:613744"}
xref: UMLS:C3151056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462406"}
is_a: MONDO:0019064 {source="DOID:0110803", source="MONDO:Redundant", source="OMIM:613744"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/573 ! AP4E1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/573 {source="MONDO:mim2gene_medgen"} ! AP4E1

[Term]
id: MONDO:0013402
name: retinitis pigmentosa 27
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NRL retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal Degeneration, autosomal recessive, Clumped pigment type" RELATED [OMIM:613750]
synonym: "retinitis pigmentosa 27" EXACT [MONDO:Lexical, OMIM:613750]
synonym: "retinitis pigmentosa caused by mutation in NRL" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 27" EXACT [DOID:0110397, MONDORULE:2, OMIM:613750]
synonym: "RP27" EXACT ABBREVIATION [DOID:0110397, MONDO:Lexical, OMIM:613750]
xref: DOID:0110397 {source="MONDO:equivalentTo"}
xref: GARD:15700 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110397"}
xref: MEDGEN:320323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563526 {source="MONDO:equivalentTo"}
xref: OMIM:613750 {source="MONDO:equivalentTo", source="DOID:0110397"}
xref: UMLS:C1834329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320323"}
is_a: MONDO:0019200 {source="DC-OMIM:613750", source="DOID:0110397", source="MESH:C563526", source="MONDO:Redundant", source="OMIM:613750"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8002 ! NRL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8002 {source="MONDO:mim2gene_medgen"} ! NRL

[Term]
id: MONDO:0013403
name: heterotaxy, visceral, 4, autosomal
def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACVR2B visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "heterotaxy, visceral, 4, autosomal" EXACT [MONDO:Lexical, OMIM:613751]
synonym: "HTX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613751]
synonym: "visceral heterotaxy caused by mutation in ACVR2B" EXACT [MONDO:design_pattern]
xref: MEDGEN:462407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613751 {source="MONDO:equivalentTo"}
xref: Orphanet:450 {source="OMIM:613751"}
xref: UMLS:C3151057 {source="MEDGEN:462407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018677 {source="DC-OMIM:613751", source="MONDO:Redundant", source="OMIM:613751"} ! visceral heterotaxy
intersection_of: MONDO:0018677 ! visceral heterotaxy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/174 ! ACVR2B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/174 {source="MONDO:mim2gene_medgen"} ! ACVR2B

[Term]
id: MONDO:0013404
name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
def: "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." [Orphanet:88618]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88618"}
subset: orphanet_rare {source="Orphanet:88618"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039, Orphanet:88618]
synonym: "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" EXACT CLINGEN_LABEL []
synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" RELATED [OMIM:613752]
synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039]
xref: DOID:0111039 {source="MONDO:equivalentTo"}
xref: GARD:13177 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="DOID:0111039", source="Orphanet:88618", source="Orphanet:88618/attributed", source="Orphanet:88618/ntbt"}
xref: MEDGEN:462408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613752 {source="DOID:0111039", source="MONDO:equivalentTo", source="Orphanet:88618", source="Orphanet:88618/e"}
xref: Orphanet:88618 {source="DOID:0111039", source="OMIM:613752", source="MONDO:equivalentTo"}
xref: SCTID:724039002 {source="MONDO:equivalentTo"}
xref: UMLS:C3151058 {source="MEDGEN:462408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000351 {source="DC-OMIM:613752", source="DOID:0111039"} ! disorder of methionine catabolism
is_a: MONDO:0019222 {source="Orphanet:88618"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:88618", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/343 {source="MONDO:mim2gene_medgen"} ! AHCY
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013405
name: retinitis pigmentosa 49
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CNGA1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 49" EXACT [MONDO:Lexical, OMIM:613756]
synonym: "retinitis pigmentosa caused by mutation in CNGA1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 49" EXACT [DOID:0110377, MONDORULE:2, OMIM:613756]
synonym: "RP49" EXACT ABBREVIATION [DOID:0110377, MONDO:Lexical, OMIM:613756]
xref: DOID:0110377 {source="MONDO:equivalentTo"}
xref: GARD:15701 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110377"}
xref: MEDGEN:462409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613756 {source="MONDO:equivalentTo", source="DOID:0110377"}
xref: UMLS:C3151059 {source="MEDGEN:462409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:613756", source="DOID:0110377", source="MONDO:Redundant", source="OMIM:613756"} ! retinitis pigmentosa
is_a: MONDO:0800405 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGA1-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2148 ! CNGA1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2148 {source="MONDO:mim2gene_medgen"} ! CNGA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0013406
name: age related macular degeneration 6
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 6" EXACT [DOID:0110018, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in RAX2" EXACT [MONDO:design_pattern]
synonym: "ARMD6" EXACT ABBREVIATION [DOID:0110018, MONDO:Lexical, OMIM:613757]
synonym: "macular degeneration, age-related, 6" RELATED [MONDO:Lexical, OMIM:613757]
synonym: "macular Degeneration, age-related, type 6" EXACT [MONDORULE:1, OMIM:613757]
synonym: "RAX2 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110018 {source="MONDO:equivalentTo"}
xref: MEDGEN:462410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563674 {source="MONDO:equivalentTo"}
xref: OMIM:613757 {source="DOID:0110018", source="MONDO:equivalentTo"}
xref: UMLS:C3151060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462410"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:613757", source="DOID:0110018", source="MONDO:Redundant", source="OMIM:613757"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 ! RAX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 {source="MONDO:mim2gene_medgen"} ! RAX2

[Term]
id: MONDO:0013407
name: retinitis pigmentosa 47
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15702", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 47" EXACT [MONDO:Lexical, OMIM:613758]
synonym: "retinitis pigmentosa caused by mutation in SAG" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 47" EXACT [DOID:0110369, MONDORULE:2, OMIM:613758]
synonym: "RP47" EXACT ABBREVIATION [DOID:0110369, MONDO:Lexical, OMIM:613758]
synonym: "SAG retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110369 {source="MONDO:equivalentTo"}
xref: GARD:15702 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110369", source="MONDO:relatedTo"}
xref: MEDGEN:462411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613758 {source="DOID:0110369", source="MONDO:equivalentTo"}
xref: UMLS:C3151061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462411"}
is_a: MONDO:0019200 {source="DC-OMIM:613758", source="DOID:0110369", source="MONDO:Redundant", source="OMIM:613758"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 ! SAG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 {source="MONDO:mim2gene_medgen"} ! SAG

[Term]
id: MONDO:0013408
name: FADD-related immunodeficiency
def: "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance." [Orphanet:306550]
subset: gard_rare {source="GARD:15004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306550"}
subset: orphanet_rare {source="Orphanet:306550"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fadd deficiency" RELATED [OMIM:613759]
synonym: "FADD-related immunodeficiency" EXACT CLINGEN_LABEL []
synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [OMIM:613759, OMIM:genemap2]
synonym: "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" RELATED [OMIM:613759]
xref: GARD:15004 {source="MONDO:GARD"}
xref: MEDGEN:462412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200741 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613759 {source="MONDO:equivalentTo", source="Orphanet:306550", source="Orphanet:306550/e"}
xref: Orphanet:306550 {source="MONDO:equivalentTo", source="OMIM:613759"}
xref: SCTID:723334006 {source="MONDO:equivalentTo"}
xref: UMLS:C3151062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462412"}
is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3573 {source="MONDO:mim2gene_medgen"} ! FADD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013409
name: age related macular degeneration 5
def: "An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "age related macular degeneration type 5" EXACT [DOID:0110028, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in ERCC6" EXACT [MONDO:design_pattern]
synonym: "ARMD5" EXACT ABBREVIATION [DOID:0110028, MONDO:Lexical, OMIM:613761]
synonym: "ERCC6 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 5" RELATED [MONDO:Lexical, OMIM:613761]
synonym: "macular degeneration, age-related, susceptibility to, 5" EXACT [OMIM:613761, OMIM:genemap2]
synonym: "macular Degeneration, age-related, type 5" EXACT [MONDORULE:1, OMIM:613761]
xref: DOID:0110028 {source="MONDO:equivalentTo"}
xref: MEDGEN:462413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613761 {source="DOID:0110028", source="MONDO:equivalentTo"}
xref: UMLS:C3151063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462413"}
is_a: MONDO:0100174 {source="OMIM:615439"} ! age related macular degeneration, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6
intersection_of: predisposes_towards MONDO:0005150 ! age-related macular degeneration
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005150 {source="DC-OMIM:613761", source="DOID:0110028", source="MONDO:Redundant", source="OMIM:613761", source="https://orcid.org/0000-0001-5208-3432"} ! age-related macular degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013410
name: 46,XY sex reversal 6
subset: gard_rare {source="GARD:15703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY gonadal dysgenesis, partial or complete, Map3K1-related" RELATED [OMIM:613762]
synonym: "46,XY SEX reversal 6" RELATED [OMIM:613762]
synonym: "46,XY sex reversal 6" EXACT [MONDO:Lexical, OMIM:613762]
synonym: "46,XY Sex reversal type 6" EXACT [MONDORULE:1, OMIM:613762]
synonym: "46,XY Sex reversal, partial or complete, Map3K1-related" RELATED [OMIM:613762]
synonym: "46XY sex reversal 6" EXACT [OMIM:613762, OMIM:genemap2]
synonym: "SRXY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613762]
xref: DOID:0111769 {source="MONDO:equivalentTo"}
xref: GARD:15703 {source="MONDO:GARD"}
xref: MEDGEN:462414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613762 {source="MONDO:equivalentTo"}
xref: Orphanet:242 {source="OMIM:613762"}
xref: Orphanet:251510 {source="OMIM:613762"}
xref: UMLS:C3151064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462414"}
is_a: MONDO:0010765 {source="OMIM:613762", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6848 {source="MONDO:mim2gene_medgen"} ! MAP3K1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013411
name: cataract 16 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract 16, multiple types" RELATED [MONDO:Lexical, OMIM:613763]
synonym: "cataract, congenital lamellar" RELATED [OMIM:613763]
synonym: "cataract, posterior polar, 2" RELATED [OMIM:613763]
synonym: "CRYAB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTPP2" NARROW ABBREVIATION [DOID:0110250]
synonym: "CTRCT16" EXACT ABBREVIATION [DOID:0110250, MONDO:Lexical, OMIM:613763]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYAB" EXACT [MONDO:design_pattern]
synonym: "posterior polar cataract 2" NARROW [DOID:0110250]
xref: DOID:0110250 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110250"}
xref: MEDGEN:814707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565134 {source="MONDO:equivalentTo"}
xref: OMIM:613763 {source="MONDO:equivalentTo", source="DOID:0110250"}
xref: Orphanet:91492 {source="OMIM:613763"}
xref: Orphanet:98993 {source="OMIM:613763"}
xref: Orphanet:98995 {source="OMIM:613763"}
xref: UMLS:C3808377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814707"}
is_a: MONDO:0005129 {source="DOID:0110250", source="MESH:C565134", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:613763"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract
is_a: MONDO:0020379 {source="Orphanet:98995/btnt"} ! early-onset zonular cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 ! CRYAB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB

[Term]
id: MONDO:0013412
name: hypertrophic cardiomyopathy 9
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, familial hypertrophic, 9" EXACT [DOID:0110315, MONDO:Lexical, OMIM:613765]
synonym: "cardiomyopathy, familial hypertrophic, type 9" EXACT [MONDORULE:1, OMIM:613765]
synonym: "CMH9" EXACT ABBREVIATION [DOID:0110315, MONDO:Lexical, OMIM:613765]
synonym: "hypertrophic cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 9" EXACT [DOID:0110315, MONDORULE:1]
synonym: "TTN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110315 {source="MONDO:equivalentTo"}
xref: MEDGEN:348780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566044 {source="MONDO:equivalentTo"}
xref: OMIM:613765 {source="DOID:0110315", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:613765"}
xref: UMLS:C1861065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348780"}
is_a: MONDO:0005045 {source="DC-OMIM:613765", source="DOID:0110315", source="MESH:C566044/inferred", source="MONDO:Redundant", source="OMIM:613765"} ! hypertrophic cardiomyopathy
is_a: MONDO:0016191 ! qualitative or quantitative defects of titin
is_a: MONDO:0024573 {source="MESH:C566044", source="MONDO:OMIM", source="OMIM:613765"} ! familial hypertrophic cardiomyopathy
is_a: MONDO:0100494 {source="https://orcid.org/0000-0001-9310-0163"} ! autosomal dominant titinopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 ! TTN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="MONDO:mim2gene_medgen"} ! TTN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7346" xsd:anyURI

[Term]
id: MONDO:0013413
name: retinitis pigmentosa 45
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CNGB1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 45" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613767]
synonym: "retinitis pigmentosa caused by mutation in CNGB1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 45" EXACT [DOID:0110402, MONDORULE:2, OMIM:613767]
synonym: "RP45" EXACT ABBREVIATION [DOID:0110402, MONDO:Lexical, OMIM:613767]
xref: DOID:0110402 {source="MONDO:equivalentTo"}
xref: GARD:15704 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110402", source="MONDO:relatedTo"}
xref: MEDGEN:462416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613767 {source="DOID:0110402", source="MONDO:equivalentTo"}
xref: UMLS:C3151066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462416"}
is_a: MONDO:0019200 {source="DC-OMIM:613767", source="DOID:0110402", source="MONDO:Redundant", source="OMIM:613767"} ! retinitis pigmentosa
is_a: MONDO:0800403 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB1-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2151 ! CNGB1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2151 {source="MONDO:mim2gene_medgen"} ! CNGB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0013414
name: retinitis pigmentosa 44
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 44" EXACT [MONDO:Lexical, OMIM:613769]
synonym: "retinitis pigmentosa caused by mutation in RGR" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 44" EXACT [DOID:0110394, MONDORULE:2, OMIM:613769]
synonym: "RGR retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RP44" EXACT ABBREVIATION [DOID:0110394, MONDO:Lexical, OMIM:613769]
xref: DOID:0110394 {source="MONDO:equivalentTo"}
xref: GARD:15705 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110394"}
xref: MEDGEN:462418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613769 {source="MONDO:equivalentTo", source="DOID:0110394"}
xref: UMLS:C3151068 {source="MEDGEN:462418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:613769", source="DOID:0110394", source="MONDO:Redundant", source="OMIM:613769"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9990 ! RGR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9990 {source="MONDO:mim2gene_medgen"} ! RGR

[Term]
id: MONDO:0013415
name: chromosome 17p13.1 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17p13.1 deletion syndrome" RELATED [GARD:0010996]
synonym: "chromosome 17p13.1 deletion syndrome" EXACT [OMIM:613776]
xref: DOID:0060402 {source="MONDO:equivalentTo"}
xref: MEDGEN:462419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054221 {source="DOID:0060402"}
xref: OMIM:613776 {source="DOID:0060402", source="MONDO:equivalentTo"}
xref: UMLS:C3151069 {source="MEDGEN:462419", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:613776", source="DOID:0060402"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0022754 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 17p deletion
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr17p13.1 ! 17p13.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0013416
name: age related macular degeneration 8
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 8" EXACT [DOID:0110020, MONDORULE:1]
synonym: "age-related macular degeneration caused by mutation in ARMS2" EXACT [MONDO:design_pattern]
synonym: "ARMD8" EXACT ABBREVIATION [DOID:0110020, MONDO:Lexical, OMIM:613778]
synonym: "ARMS2 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 8" RELATED [MONDO:Lexical, OMIM:613778]
synonym: "macular Degeneration, age-related, type 8" EXACT [MONDORULE:1, OMIM:613778]
xref: DOID:0110020 {source="MONDO:equivalentTo"}
xref: MEDGEN:462420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613778 {source="MONDO:equivalentTo", source="DOID:0110020"}
xref: UMLS:C3151070 {source="MEDGEN:462420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:613778", source="DOID:0110020", source="MONDO:Redundant", source="OMIM:613778"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32685 ! ARMS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32685 {source="MONDO:mim2gene_medgen"} ! ARMS2

[Term]
id: MONDO:0013417
name: complement component 3 deficiency
def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." [NCIT:P378]
subset: gard_rare {source="GARD:16489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280133"}
subset: orphanet_rare {source="Orphanet:280133"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C3 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C3 deficiency" EXACT [DOID:8354, Orphanet:280133]
synonym: "C3 deficiency, autosomal recessive" RELATED [OMIM:613779]
synonym: "C3d" RELATED [MONDO:Lexical, OMIM:613779]
synonym: "classic complement early component deficiency caused by mutation in C3" EXACT [MONDO:design_pattern]
synonym: "complement component 3 deficiency, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613779]
xref: DOID:8354 {source="MONDO:equivalentTo"}
xref: GARD:16489 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:280133", source="Orphanet:280133/attributed", source="Orphanet:280133/ntbt"}
xref: MEDGEN:462421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565169 {source="MONDO:equivalentTo"}
xref: NANDO:2200782 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9468 {source="MONDO:equivalentTo", source="DOID:8354"}
xref: OMIM:613779 {source="MONDO:equivalentTo", source="Orphanet:280133", source="DOID:8354", source="Orphanet:280133/e"}
xref: Orphanet:280133 {source="MONDO:equivalentTo", source="OMIM:613779", source="DOID:8354"}
xref: UMLS:C3151071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462421"}
is_a: MONDO:0000015 {source="DC-OMIM:613779", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0003832 {source="DOID:8354", source="MONDO:Redundant", source="NCIT:C9468", source="Orphanet:280133"} ! complement deficiency
intersection_of: MONDO:0000015 ! classic complement early component deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 ! C3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 {source="MONDO:mim2gene_medgen"} ! C3

[Term]
id: MONDO:0013418
name: aortic aneurysm, familial thoracic 7
subset: gard_rare {source="GARD:15706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAT7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613780]
synonym: "aortic aneurysm, familial thoracic 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613780]
synonym: "aortic aneurysm, familial thoracic type 7" EXACT [MONDORULE:1, OMIM:613780]
synonym: "aortic dissection, familial, with or without aortic aneurysm" RELATED [OMIM:613780]
xref: GARD:15706 {source="MONDO:GARD"}
xref: MEDGEN:462427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613780 {source="MONDO:equivalentTo"}
xref: Orphanet:91387 {source="OMIM:613780"}
xref: UMLS:C3151077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462427"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:613780", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7590 ! MYLK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7590 {source="MONDO:mim2gene_medgen"} ! MYLK

[Term]
id: MONDO:0013419
name: complement component C1s deficiency
def: "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." [PMID:11390518]
subset: gard_rare {source="GARD:15707", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C1s deficiency" RELATED [OMIM:613783]
synonym: "C1SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613783]
synonym: "complement component C1s deficiency" EXACT [MONDO:Lexical, OMIM:613783]
xref: GARD:15707 {source="MONDO:GARD"}
xref: MEDGEN:462428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565170 {source="MONDO:equivalentTo"}
xref: NANDO:2200779 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613783 {source="MONDO:equivalentTo"}
xref: Orphanet:169147 {source="OMIM:613783"}
xref: UMLS:C3151078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462428"}
is_a: MONDO:0000015 {source="DC-OMIM:613783"} ! classic complement early component deficiency
is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1247 {source="MONDO:mim2gene_medgen"} ! C1S

[Term]
id: MONDO:0013420
name: age related macular degeneration 12
def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 12" EXACT [DOID:0110024, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in CX3CR1" EXACT [MONDO:design_pattern]
synonym: "ARMD12" EXACT ABBREVIATION [DOID:0110024, MONDO:Lexical, OMIM:613784]
synonym: "CX3CR1 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 12" RELATED [MONDO:Lexical, OMIM:613784]
synonym: "macular Degeneration, age-related, type 12" EXACT [MONDORULE:2, OMIM:613784]
xref: DOID:0110024 {source="MONDO:equivalentTo"}
xref: MEDGEN:462429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613784 {source="MONDO:equivalentTo", source="DOID:0110024"}
xref: UMLS:C3151079 {source="MEDGEN:462429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:613784", source="DOID:0110024", source="MONDO:Redundant", source="OMIM:613784"} ! age-related macular degeneration
intersection_of: MONDO:0005150 ! age-related macular degeneration
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2558 ! CX3CR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2558 {source="MONDO:mim2gene_medgen"} ! CX3CR1

[Term]
id: MONDO:0013421
name: type II complement component 8 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10625", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C8 Beta deficiency" RELATED [OMIM:613789]
synonym: "C8 deficiency type II" RELATED [GARD:0010625]
synonym: "C8 deficiency, type 2" RELATED [OMIM:613789]
synonym: "C8 deficiency, type II" EXACT [OMIM:613789, OMIM:genemap2]
synonym: "C8B classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C8B deficiency" RELATED [OMIM:613789]
synonym: "C8D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613789]
synonym: "classic complement early component deficiency caused by mutation in C8B" EXACT [MONDO:design_pattern]
synonym: "complement component 8 deficiency type 2" RELATED [GARD:0010625]
synonym: "complement component 8 deficiency type II" RELATED [GARD:0010625]
synonym: "complement component 8 deficiency, type 2" RELATED [OMIM:613789]
synonym: "complement component 8 deficiency, type II" RELATED [MONDO:Lexical, OMIM:613789]
synonym: "complement component 8B deficiency" RELATED [OMIM:613789]
synonym: "Human complement C8-beta deficiency" RELATED [GARD:0010625]
xref: DOID:0060302 {source="MONDO:equivalentTo"}
xref: GARD:10625 {source="MONDO:GARD"}
xref: HGNC:1353 {source="GARD:0010625"}
xref: ICD10CM:D84.1 {source="DOID:0060302"}
xref: MEDGEN:462430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613789 {source="MONDO:equivalentTo", source="DOID:0060302"}
xref: Orphanet:169150 {source="OMIM:613789", source="DOID:0060302"}
xref: UMLS:C3151080 {source="MONDO:equivalentTo", source="MEDGEN:462430", source="MONDO:MEDGEN"}
is_a: MONDO:0000015 {source="DC-OMIM:613789", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
intersection_of: MONDO:0000015 ! classic complement early component deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1353 ! C8B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1353 {source="MONDO:mim2gene_medgen"} ! C8B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-2" xsd:anyURI {source="GARD:0010625"}

[Term]
id: MONDO:0013422
name: type I complement component 8 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10626", source="MONDO:GARD"}
subset: rare
synonym: "C8 Alpha-gamma deficiency" RELATED [OMIM:613790]
synonym: "C8 deficiency type I" RELATED [GARD:0010626]
synonym: "C8 deficiency, type 1" RELATED [OMIM:613790]
synonym: "C8 deficiency, type I" EXACT [OMIM:613790, OMIM:genemap2]
synonym: "C81 deficiency" RELATED [GARD:0010626]
synonym: "C8A classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C8Ag deficiency" RELATED [OMIM:613790]
synonym: "C8D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613790]
synonym: "classic complement early component deficiency caused by mutation in C8A" EXACT [MONDO:design_pattern]
synonym: "complement component 8 deficiency type 1" RELATED [GARD:0010626]
synonym: "complement component 8 deficiency type I" RELATED [GARD:0010626]
synonym: "complement component 8 deficiency, type 1" RELATED [OMIM:613790]
synonym: "complement component 8 deficiency, type I" RELATED [MONDO:Lexical, OMIM:613790]
xref: DOID:0060301 {source="MONDO:equivalentTo"}
xref: GARD:10626 {source="MONDO:GARD"}
xref: HGNC:1352 {source="GARD:0010626"}
xref: ICD10CM:D84.1 {source="DOID:0060301"}
xref: MEDGEN:462431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613790 {source="DOID:0060301", source="MONDO:equivalentTo"}
xref: Orphanet:169150 {source="DOID:0060301", source="OMIM:613790"}
xref: UMLS:C3151081 {source="MEDGEN:462431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000015 {source="DC-OMIM:613790", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
intersection_of: MONDO:0000015 ! classic complement early component deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1352 ! C8A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1352 {source="MONDO:mim2gene_medgen"} ! C8A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-1" xsd:anyURI {source="GARD:0010626"}

[Term]
id: MONDO:0013423
name: immunodeficiency due to MASP-2 deficiency
def: "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." [Orphanet:331187]
subset: gard_rare {source="GARD:17512", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:331187"}
subset: orphanet_rare {source="Orphanet:331187"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunodeficiency due to MASP-2 deficiency" EXACT CLINGEN_LABEL []
synonym: "lectin complement activation pathway, defect in, 2" RELATED [OMIM:613791]
synonym: "MASP2 deficiency" RELATED [OMIM:613791]
xref: GARD:17512 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:331187", source="Orphanet:331187/attributed", source="Orphanet:331187/ntbt"}
xref: MEDGEN:462435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565360 {source="MONDO:equivalentTo"}
xref: NANDO:2200793 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613791 {source="Orphanet:331187", source="MONDO:equivalentTo", source="Orphanet:331187/e"}
xref: Orphanet:331187 {source="MONDO:equivalentTo", source="OMIM:613791"}
xref: UMLS:C3151085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462435"}
is_a: MONDO:0003832 {source="Orphanet:331187"} ! complement deficiency
is_a: MONDO:0044209 {source="OMIM:613791"} ! disorder of lectin complement activation pathway
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6902 {source="MONDO:mim2gene_medgen"} ! MASP2

[Term]
id: MONDO:0013424
name: 3p- syndrome
def: "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." [Orphanet:1620]
subset: gard_rare {source="GARD:3750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:951"}
subset: ordo_disorder {source="Orphanet:1620"}
subset: ordo_malformation_syndrome {source="Orphanet:1620"}
subset: orphanet_rare {source="Orphanet:1620"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3p deletion" RELATED [GARD:0000037]
synonym: "3p monosomy" RELATED [GARD:0000037]
synonym: "3p- syndrome" EXACT [OMIM:613792, Orphanet:1620]
synonym: "Chromosome 3, Monosomy 3p" EXACT [NORD:951]
synonym: "chromosome 3, monosomy 3p25" RELATED [GARD:0003750]
synonym: "chromosome 3p deletion" RELATED [GARD:0000037]
synonym: "chromosome 3p- syndrome" RELATED [GARD:0003750]
synonym: "chromosome 3pter-p25 deletion syndrome" EXACT [DOID:0060417, OMIM:613792]
synonym: "Del(3p) syndrome" RELATED [GARD:0003750]
synonym: "del(3p25)" RELATED [NCIT:C41377]
synonym: "deletion 3p" RELATED [GARD:0000037]
synonym: "deletion 3p25" RELATED [GARD:0003750]
synonym: "distal 3p deletion" EXACT [Orphanet:1620]
synonym: "distal monosomy 3p" EXACT [DOID:0060417]
synonym: "distal monosomy type 3p" EXACT [MONDORULE:4, Orphanet:1620]
synonym: "monosomy 3p" RELATED [GARD:0000037]
synonym: "monosomy 3pter" EXACT [Orphanet:1620]
synonym: "partial monosomy 3p" RELATED [GARD:0000037]
synonym: "telomeric monosomy 3p" EXACT [Orphanet:1620]
xref: DOID:0060417 {source="MONDO:equivalentTo"}
xref: GARD:3750 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1620/attributed", source="Orphanet:1620/ntbt", source="Orphanet:1620", source="DOID:0060417"}
xref: MEDGEN:1643555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536804 {source="MONDO:equivalentTo"}
xref: NCIT:C41377 {source="MONDO:relatedTo"}
xref: NORD:951 {source="MONDO:NORD"}
xref: OMIM:613792 {source="Orphanet:1620", source="MONDO:equivalentTo", source="DOID:0060417", source="Orphanet:1620/e"}
xref: Orphanet:1620 {source="MONDO:equivalentTo", source="DOID:0060417", source="OMIM:613792"}
xref: SCTID:763528002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643555"}
is_a: MONDO:0000761 {source="DC-OMIM:613792", source="DOID:0060417"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016885 {source="Orphanet:1620"} ! partial deletion of the short arm of chromosome 3
is_a: MONDO:0017393 {source="Orphanet:1620"} ! blepharophimosis - intellectual disability syndrome
relationship: disease_arises_from_structure CHR:9606-chr3p {source="https://orcid.org/0000-0002-4142-7153"} ! 3p (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0013425
name: retinitis pigmentosa 20
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10404", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 20" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613794]
synonym: "retinitis pigmentosa caused by mutation in RPE65" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 20" EXACT [DOID:0110353, MONDORULE:2, OMIM:613794]
synonym: "RP 20" RELATED [GARD:0010404]
synonym: "RP20" EXACT ABBREVIATION [DOID:0110353, MONDO:Lexical, OMIM:613794]
synonym: "RPE65 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110353 {source="MONDO:equivalentTo"}
xref: GARD:10404 {source="MONDO:GARD"}
xref: HGNC:10294 {source="GARD:0010404"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110353"}
xref: MEDGEN:462436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566718 {source="MONDO:equivalentTo"}
xref: OMIM:613794 {source="MONDO:equivalentTo", source="DOID:0110353"}
xref: UMLS:C3151086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462436"}
is_a: MONDO:0019200 {source="DC-OMIM:613794", source="DOID:0110353", source="MESH:C566718", source="MONDO:Redundant", source="OMIM:613794"} ! retinitis pigmentosa
is_a: MONDO:0100368 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65-related recessive retinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="MONDO:mim2gene_medgen"} ! RPE65
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10404/retinitis-pigmentosa-20" xsd:anyURI {source="GARD:0010404"}

[Term]
id: MONDO:0013426
name: aneurysm-osteoarthritis syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10997", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284984"}
subset: orphanet_rare {source="Orphanet:284984"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aneurysm - osteoarthritis syndrome" RELATED [GARD:0010997]
synonym: "aneurysm-osteoarthritis syndrome" EXACT CLINGEN_LABEL []
synonym: "aneurysms-osteoarthritis syndrome" RELATED [OMIM:613795]
synonym: "LDS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613795]
synonym: "Loeys-Dietz syndrome 3" RELATED [MONDO:Lexical, OMIM:613795]
synonym: "Loeys-Dietz syndrome type 3" EXACT [MONDORULE:1, OMIM:613795]
synonym: "Loeys-Dietz syndrome with osteoarthritis" RELATED [OMIM:613795]
synonym: "Loeys-Dietz syndrome, type 1C" RELATED DEPRECATED [OMIM:613795]
synonym: "Loeys-Dietz syndrome, type 1C (formerly)" RELATED DEPRECATED [GARD:0010997]
synonym: "Loeys-Dietz syndrome, type 1C, formerly" RELATED DEPRECATED [OMIM:613795]
synonym: "Loeys-Dietz syndrome, type 3" RELATED [GARD:0010997]
xref: DOID:0070237 {source="MONDO:equivalentTo"}
xref: GARD:10997 {source="MONDO:GARD"}
xref: MEDGEN:462437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613795 {source="MONDO:equivalentTo", source="Orphanet:284984", source="Orphanet:284984/e"}
xref: Orphanet:284984 {source="OMIM:613795", source="MONDO:equivalentTo"}
xref: UMLS:C3151087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462437"}
is_a: MONDO:0005385 ! vascular disorder
is_a: MONDO:0017310 {source="MONDO:Redundant", source="Orphanet:284984"} ! Marfan and Marfan-related disorder
is_a: MONDO:0018954 {source="DC-OMIM:613795", source="OMIM:613795"} ! Loeys-Dietz syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613795", source="Orphanet:284984"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6769 {source="MONDO:mim2gene_medgen"} ! SMAD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013427
name: immunodeficiency 31B
subset: gard_rare {source="GARD:17612", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391311"}
subset: orphanet_rare {source="Orphanet:391311"}
subset: rare
synonym: "IMD31B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613796]
synonym: "immunodeficiency 31B" EXACT [MONDO:Lexical, OMIM:613796]
synonym: "immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive" RELATED [OMIM:613796]
synonym: "immunodeficiency type 31B" EXACT [MONDORULE:4, OMIM:613796]
synonym: "STAT1 deficiency" EXACT [Orphanet:391311]
synonym: "Stat1 deficiency, autosomal recessive" RELATED [OMIM:613796]
synonym: "susceptibility to viral and mycobacterial infections" BROAD [Orphanet:391311]
xref: DOID:0111944 {source="MONDO:equivalentTo"}
xref: GARD:17612 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:391311/attributed", source="Orphanet:391311/ntbt", source="Orphanet:391311"}
xref: MEDGEN:462438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613796 {source="Orphanet:391311/e", source="MONDO:equivalentTo", source="Orphanet:391311"}
xref: Orphanet:391311 {source="OMIM:613796", source="MONDO:equivalentTo"}
xref: UMLS:C3151088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462438"}
is_a: MONDO:0021094 {source="OMIM:613796"} ! immunodeficiency disease
relationship: has_characteristic HP:0000007 {source="OMIM:613796"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 {source="MONDO:mim2gene_medgen"} ! STAT1

[Term]
id: MONDO:0013428
name: Meier-Gorlin syndrome 2
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Meier-GORLIN syndrome 2" RELATED [OMIM:613800]
synonym: "Meier-Gorlin syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613800]
synonym: "Meier-Gorlin syndrome caused by mutation in ORC4" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 2" EXACT [MONDORULE:1, OMIM:613800]
synonym: "MGORS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613800]
synonym: "ORC4 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080513 {source="MONDO:equivalentTo"}
xref: GARD:15708 {source="MONDO:GARD"}
xref: MEDGEN:462447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613800 {source="MONDO:equivalentTo"}
xref: Orphanet:2554 {source="OMIM:613800"}
xref: UMLS:C3151097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462447"}
is_a: MONDO:0016817 {source="DC-OMIM:613800", source="MONDO:Redundant", source="OMIM:613800"} ! Meier-Gorlin syndrome
intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8490 ! ORC4
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613800"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8490 {source="MONDO:mim2gene_medgen"} ! ORC4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013429
name: retinitis pigmentosa 40
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15709", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PDE6B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 40" EXACT [MONDO:Lexical, OMIM:613801]
synonym: "retinitis pigmentosa caused by mutation in PDE6B" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 40" EXACT [DOID:0110375, MONDORULE:2, OMIM:613801]
synonym: "retinitis pigmentosa-40" EXACT [OMIM:613801, OMIM:genemap2]
synonym: "RP40" EXACT ABBREVIATION [DOID:0110375, MONDO:Lexical, OMIM:613801]
xref: DOID:0110375 {source="MONDO:equivalentTo"}
xref: GARD:15709 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110375"}
xref: MEDGEN:462457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613801 {source="MONDO:equivalentTo", source="DOID:0110375"}
xref: UMLS:C3151107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462457"}
is_a: MONDO:0019200 {source="DC-OMIM:613801", source="DOID:0110375", source="MONDO:Redundant", source="OMIM:613801"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8786 ! PDE6B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8786 {source="MONDO:mim2gene_medgen"} ! PDE6B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013430
name: Meier-Gorlin syndrome 3
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15710", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Meier-GORLIN syndrome 3" RELATED [OMIM:613803]
synonym: "Meier-Gorlin syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613803]
synonym: "Meier-Gorlin syndrome caused by mutation in ORC6" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 3" EXACT [MONDORULE:1, OMIM:613803]
synonym: "MGORS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613803]
synonym: "ORC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080514 {source="MONDO:equivalentTo"}
xref: GARD:15710 {source="MONDO:GARD"}
xref: MEDGEN:462463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613803 {source="MONDO:equivalentTo"}
xref: Orphanet:2554 {source="OMIM:613803"}
xref: UMLS:C3151113 {source="MONDO:equivalentTo", source="MEDGEN:462463", source="MONDO:MEDGEN"}
is_a: MONDO:0016817 {source="DC-OMIM:613803", source="MONDO:Redundant", source="OMIM:613803"} ! Meier-Gorlin syndrome
intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17151 ! ORC6
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613803"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17151 {source="MONDO:mim2gene_medgen"} ! ORC6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013431
name: Meier-Gorlin syndrome 4
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDT1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meier-GORLIN syndrome 4" RELATED [OMIM:613804]
synonym: "Meier-Gorlin syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613804]
synonym: "Meier-Gorlin syndrome caused by mutation in CDT1" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 4" EXACT [MONDORULE:1, OMIM:613804]
synonym: "MGORS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613804]
xref: DOID:0080515 {source="MONDO:equivalentTo"}
xref: GARD:15711 {source="MONDO:GARD"}
xref: MEDGEN:462470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613804 {source="MONDO:equivalentTo"}
xref: Orphanet:2554 {source="OMIM:613804"}
xref: UMLS:C3151120 {source="MEDGEN:462470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016817 {source="DC-OMIM:613804", source="MONDO:Redundant", source="OMIM:613804"} ! Meier-Gorlin syndrome
intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24576 ! CDT1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613804"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24576 {source="MONDO:mim2gene_medgen"} ! CDT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013432
name: Meier-Gorlin syndrome 5
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meier-GORLIN syndrome 5" RELATED [OMIM:613805]
synonym: "Meier-Gorlin syndrome 5" EXACT [MONDO:Lexical, OMIM:613805]
synonym: "Meier-Gorlin syndrome caused by mutation in CDC6" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 5" EXACT [MONDORULE:1, OMIM:613805]
synonym: "MGORS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613805]
xref: DOID:0080516 {source="MONDO:equivalentTo"}
xref: GARD:15712 {source="MONDO:GARD"}
xref: MEDGEN:462476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613805 {source="MONDO:equivalentTo"}
xref: Orphanet:2554 {source="OMIM:613805"}
xref: UMLS:C3151126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462476"}
is_a: MONDO:0016817 {source="DC-OMIM:613805", source="MONDO:Redundant", source="OMIM:613805"} ! Meier-Gorlin syndrome
intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1744 ! CDC6
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613805"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1744 {source="MONDO:mim2gene_medgen"} ! CDC6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013433
name: primary sclerosing cholangitis
def: "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure." [Orphanet:171]
subset: gard_rare {source="GARD:1280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1613"}
subset: ordo_disorder {source="Orphanet:171"}
subset: orphanet_rare {source="Orphanet:171"}
subset: rare
synonym: "cholangitis, primary sclerosing" RELATED [MONDO:Lexical, OMIM:613806]
synonym: "PSC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613806, Orphanet:171]
xref: DOID:0060643 {source="MONDO:equivalentTo"}
xref: GARD:1280 {source="MONDO:GARD"}
xref: ICD10CM:K83.0 {source="Orphanet:171", source="DOID:0060643", source="Orphanet:171/ntbt"}
xref: icd11.foundation:857962451 {source="MONDO:equivalentTo", source="Orphanet:171"}
xref: MedDRA:10036732 {source="Orphanet:171", source="Orphanet:171/e"}
xref: MEDGEN:107565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536419 {source="Orphanet:171", source="Orphanet:171/e"}
xref: NANDO:1200440 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100265 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1613 {source="MONDO:NORD"}
xref: OMIM:613806 {source="MONDO:equivalentTo", source="Orphanet:171", source="DOID:0060643", source="Orphanet:171/e"}
xref: Orphanet:171 {source="MONDO:equivalentTo", source="DOID:0060643", source="OMIM:613806"}
xref: SCTID:197441003 {source="MONDO:equivalentTo"}
xref: UMLS:C0566602 {source="MEDGEN:107565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018646 {source="DOID:0060643", source="Orphanet:171"} ! sclerosing cholangitis

[Term]
id: MONDO:0013434
name: primary ciliary dyskinesia 14
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCDC39 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD14" EXACT ABBREVIATION [DOID:0110598, MONDO:Lexical, OMIM:613807]
synonym: "ciliary dyskinesia, primary, 14" RELATED [MONDO:Lexical, OMIM:613807]
synonym: "ciliary dyskinesia, primary, 14, with or without situs inversus" RELATED [OMIM:613807]
synonym: "ciliary dyskinesia, primary, type 14" EXACT [MONDORULE:2, OMIM:613807]
synonym: "primary ciliary dyskinesia 14" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 14 with or without situs inversus" EXACT [DOID:0110598]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC39" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 14" EXACT [DOID:0110598, MONDORULE:2]
xref: DOID:0110598 {source="MONDO:equivalentTo"}
xref: GARD:15713 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110598"}
xref: MEDGEN:462486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C148370 {source="MONDO:equivalentTo"}
xref: OMIM:613807 {source="MONDO:equivalentTo", source="DOID:0110598"}
xref: Orphanet:244 {source="OMIM:613807"}
xref: UMLS:C3151136 {source="MEDGEN:462486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:613807", source="DOID:0110598", source="MONDO:Redundant", source="OMIM:613807"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25244 ! CCDC39
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25244 {source="MONDO:mim2gene_medgen"} ! CCDC39

[Term]
id: MONDO:0013435
name: primary ciliary dyskinesia 15
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCDC40 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD15" EXACT ABBREVIATION [DOID:0110623, MONDO:Lexical, OMIM:613808]
synonym: "ciliary dyskinesia, primary, 15" RELATED [MONDO:Lexical, OMIM:613808]
synonym: "ciliary dyskinesia, primary, 15, with or without situs inversus" RELATED [OMIM:613808]
synonym: "ciliary dyskinesia, primary, type 15" EXACT [MONDORULE:2, OMIM:613808]
synonym: "primary ciliary dyskinesia 15" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 15 with or without situs inversus" EXACT [DOID:0110623]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC40" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 15" EXACT [DOID:0110623, MONDORULE:2]
xref: DOID:0110623 {source="MONDO:equivalentTo"}
xref: GARD:15714 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110623"}
xref: MEDGEN:462487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155999 {source="MONDO:equivalentTo"}
xref: OMIM:613808 {source="DOID:0110623", source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:613808"}
xref: UMLS:C3151137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462487"}
is_a: MONDO:0016575 {source="DC-OMIM:613808", source="DOID:0110623", source="MONDO:Redundant", source="OMIM:613808"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26090 ! CCDC40
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26090 {source="MONDO:mim2gene_medgen"} ! CCDC40

[Term]
id: MONDO:0013436
name: retinitis pigmentosa 39
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 39" EXACT [MONDO:Lexical, OMIM:613809]
synonym: "retinitis pigmentosa caused by mutation in USH2A" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 39" EXACT [DOID:0110360, MONDORULE:2, OMIM:613809]
synonym: "RP39" EXACT ABBREVIATION [DOID:0110360, MONDO:Lexical, OMIM:613809]
synonym: "USH2A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110360 {source="MONDO:equivalentTo"}
xref: GARD:15715 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110360"}
xref: MEDGEN:462488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613809 {source="MONDO:equivalentTo", source="DOID:0110360"}
xref: Orphanet:791 {source="OMIM:613809"}
xref: UMLS:C3151138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462488"}
is_a: MONDO:0019200 {source="DC-OMIM:613809", source="DOID:0110360", source="MONDO:Redundant", source="OMIM:613809"} ! retinitis pigmentosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12601 {source="MONDO:mim2gene_medgen"} ! USH2A

[Term]
id: MONDO:0013437
name: retinitis pigmentosa 43
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15716", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PDE6A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 43" EXACT [MONDO:Lexical, OMIM:613810]
synonym: "retinitis pigmentosa caused by mutation in PDE6A" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 43" EXACT [DOID:0110379, MONDORULE:2, OMIM:613810]
synonym: "RP43" EXACT ABBREVIATION [DOID:0110379, MONDO:Lexical, OMIM:613810]
xref: DOID:0110379 {source="MONDO:equivalentTo"}
xref: GARD:15716 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110379", source="MONDO:relatedTo"}
xref: MEDGEN:462489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613810 {source="DOID:0110379", source="MONDO:equivalentTo"}
xref: UMLS:C3151139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462489"}
is_a: MONDO:0019200 {source="DC-OMIM:613810", source="DOID:0110379", source="MONDO:Redundant", source="OMIM:613810"} ! retinitis pigmentosa
is_a: MONDO:0700224 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PDE6A-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8785 ! PDE6A
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8785 {source="MONDO:mim2gene_medgen"} ! PDE6A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0013438
name: pontocerebellar hypoplasia type 2D
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15717", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebello-cerebral atrophy, progressive" RELATED [OMIM:613811]
synonym: "Cerebellocerebral atrophy, progressive" RELATED [OMIM:613811]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS" EXACT [MONDO:design_pattern]
synonym: "PCH2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613811]
synonym: "pontocerebellar hypoplasia type 2D" EXACT CLINGEN_LABEL []
synonym: "pontocerebellar hypoplasia, type 2D" RELATED [MONDO:Lexical, OMIM:613811]
synonym: "SEPSECS non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060270 {source="MONDO:equivalentTo"}
xref: GARD:15717 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="DOID:0060270"}
xref: MEDGEN:462490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613811 {source="MONDO:equivalentTo", source="DOID:0060270"}
xref: Orphanet:2524 {source="OMIM:613811", source="DOID:0060270"}
xref: UMLS:C3151140 {source="MEDGEN:462490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2
is_a: MONDO:0020135 {source="DOID:0060270", source="MONDO:Redundant", source="OMIM:613811"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30605 ! SEPSECS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30605 {source="MONDO:mim2gene_medgen"} ! SEPSECS

[Term]
id: MONDO:0013439
name: congenital bile acid synthesis defect 3
def: "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease." [Orphanet:79302]
subset: gard_rare {source="GARD:16713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79302"}
subset: orphanet_rare {source="Orphanet:79302"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BASD3" EXACT ABBREVIATION [Orphanet:79302]
synonym: "bile acid synthesis defect, congenital, 3" RELATED [MONDO:Lexical, OMIM:613812]
synonym: "bile acid synthesis defect, congenital, type 3" EXACT [MONDORULE:1, OMIM:613812]
synonym: "CBAS3" EXACT ABBREVIATION [DOID:0111070, MONDO:Lexical, OMIM:613812]
synonym: "congenital bile acid synthesis defect caused by mutation in CYP7B1" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 3" EXACT [DOID:0111070, MONDORULE:1]
synonym: "CYP7B1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [DOID:0111070, Orphanet:79302]
xref: DOID:0111070 {source="MONDO:equivalentTo"}
xref: GARD:16713 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="DOID:0111070", source="Orphanet:79302/attributed", source="Orphanet:79302/ntbt", source="Orphanet:79302"}
xref: MEDGEN:462497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566340 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="Orphanet:79302"}
xref: OMIM:613812 {source="DOID:0111070", source="Orphanet:79302/e", source="MONDO:equivalentTo", source="Orphanet:79302"}
xref: Orphanet:79302 {source="DOID:0111070", source="MONDO:equivalentTo", source="OMIM:613812"}
xref: SCTID:719454003 {source="MONDO:equivalentTo"}
xref: UMLS:C3151147 {source="MEDGEN:462497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018841 {source="DC-OMIM:613812", source="DOID:0111070", source="MONDO:Redundant", source="OMIM:613812", source="Orphanet:79302"} ! congenital bile acid synthesis defect
intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2652 ! CYP7B1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2652 {source="MONDO:mim2gene_medgen"} ! CYP7B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013440
name: autosomal recessive limb-girdle muscular dystrophy type 2P
def: "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." [Orphanet:280333]
subset: gard_rare {source="GARD:12541", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280333"}
subset: orphanet_rare {source="Orphanet:280333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1" EXACT [MONDO:design_pattern]
synonym: "DAG1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2P" EXACT ABBREVIATION [DOID:0110293, Orphanet:280333]
synonym: "limb-girdle muscular dystrophy type 2P" RELATED [GARD:0012541]
synonym: "MDDGC9" EXACT ABBREVIATION [DOID:0110293, MONDO:Lexical, OMIM:613818]
synonym: "muscular dystrophy, limb-girdle, type 2P" RELATED [OMIM:613818]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9" EXACT [DOID:0110293]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" RELATED [MONDO:Lexical, OMIM:613818]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" EXACT [DOID:0110293]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related" RELATED [OMIM:613818]
xref: DOID:0110293 {source="MONDO:equivalentTo"}
xref: GARD:12541 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0110293", source="Orphanet:280333", source="Orphanet:280333/attributed", source="Orphanet:280333/ntbt"}
xref: MEDGEN:1386785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613818 {source="Orphanet:280333/e", source="DOID:0110293", source="MONDO:equivalentTo", source="Orphanet:280333"}
xref: Orphanet:280333 {source="DOID:0110293", source="MONDO:equivalentTo", source="OMIM:613818"}
xref: UMLS:C4511963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386785"}
is_a: MONDO:0000173 {source="DC-OMIM:613818", source="OMIM:613818"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110293", source="MONDO:Redundant", source="OMIM:613818", source="Orphanet:280333"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0015286 ! congenital disorder of glycosylation
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2666 ! DAG1
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2666 {source="MONDO:mim2gene_medgen"} ! DAG1

[Term]
id: MONDO:0013441
name: asphyxiating thoracic dystrophy 4
def: "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24." [DOID:0110088, PMID:21258341]
subset: gard_rare {source="GARD:15718", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "asphyxiating thoracic dystrophy 4" EXACT [OMIM:613819]
synonym: "asphyxiating thoracic dystrophy type 4" EXACT [DOID:0110088, MONDORULE:1]
synonym: "ATD4" EXACT ABBREVIATION [DOID:0110088]
synonym: "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT [DOID:0110088, MONDO:Lexical, OMIM:613819]
synonym: "SRTD4" EXACT ABBREVIATION [DOID:0110088, MONDO:Lexical, OMIM:613819]
xref: DOID:0110088 {source="MONDO:equivalentTo"}
xref: GARD:15718 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110088"}
xref: MEDGEN:462535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613819 {source="MONDO:equivalentTo", source="DOID:0110088"}
xref: Orphanet:474 {source="OMIM:613819"}
xref: UMLS:C3151185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462535"}
is_a: MONDO:0018770 {source="DOID:0110088", source="OMIM:613819"} ! Jeune syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25660 {source="MONDO:mim2gene_medgen"} ! TTC21B

[Term]
id: MONDO:0013442
name: nephronophthisis 12
def: "Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Joubert syndrome 11" RELATED [OMIM:613820]
synonym: "nephronophthisis (disease) caused by mutation in TTC21B" EXACT []
synonym: "nephronophthisis 12" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613820]
synonym: "nephronophthisis type 12" EXACT [DOID:0111119, MONDORULE:2, OMIM:613820]
synonym: "NPHP12" EXACT ABBREVIATION [DOID:0111119, MONDO:Lexical, OMIM:613820]
synonym: "TTC21B nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111119 {source="MONDO:equivalentTo"}
xref: MEDGEN:462536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613820 {source="DOID:0111119", source="MONDO:equivalentTo"}
xref: Orphanet:655 {source="OMIM:613820"}
xref: UMLS:C3151186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462536"}
is_a: MONDO:0019005 {source="DC-OMIM:613820", source="DOID:0111119", source="MONDO:Redundant", source="OMIM:613820"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25660 ! TTC21B
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613820"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25660 {source="MONDO:mim2gene_medgen"} ! TTC21B

[Term]
id: MONDO:0013443
name: Seckel syndrome 5
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP152 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL5" EXACT ABBREVIATION [DOID:0070012, MONDO:Lexical, OMIM:613823]
synonym: "Seckel syndrome 5" EXACT [MONDO:Lexical, OMIM:613823]
synonym: "Seckel syndrome caused by mutation in CEP152" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 5" EXACT [MONDORULE:1, OMIM:613823]
xref: DOID:0070012 {source="MONDO:equivalentTo"}
xref: GARD:15719 {source="MONDO:GARD"}
xref: MEDGEN:462537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613823 {source="DOID:0070012", source="MONDO:equivalentTo"}
xref: Orphanet:808 {source="OMIM:613823"}
xref: UMLS:C3151187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462537"}
is_a: MONDO:0019342 {source="DC-OMIM:613823", source="DOID:0070012", source="MONDO:Redundant", source="OMIM:613823"} ! Seckel syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 ! CEP152
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613823"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 {source="MONDO:mim2gene_medgen"} ! CEP152
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013444
name: nephronophthisis 9
def: "Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NEK8 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in NEK8" EXACT []
synonym: "nephronophthisis 9" EXACT [MONDO:Lexical, OMIM:613824]
synonym: "nephronophthisis type 9" EXACT [DOID:0111120, MONDORULE:1, OMIM:613824]
synonym: "NPHP9" EXACT ABBREVIATION [DOID:0111120, MONDO:Lexical, OMIM:613824]
xref: DOID:0111120 {source="MONDO:equivalentTo"}
xref: MEDGEN:462538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613824 {source="MONDO:equivalentTo", source="DOID:0111120"}
xref: Orphanet:655 {source="OMIM:613824"}
xref: UMLS:C3151188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462538"}
is_a: MONDO:0019005 {source="DC-OMIM:613824", source="DOID:0111120", source="MONDO:Redundant", source="OMIM:613824"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13387 ! NEK8
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613824"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13387 {source="MONDO:mim2gene_medgen"} ! NEK8

[Term]
id: MONDO:0013445
name: complement component 9 deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18292", source="MONDO:GARD"}
subset: rare
synonym: "C9 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C9 deficiency" RELATED [OMIM:613825]
synonym: "C9D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613825]
synonym: "classic complement early component deficiency caused by mutation in C9" EXACT [MONDO:design_pattern]
synonym: "complement component 9 deficiency" EXACT [MONDO:Lexical, OMIM:613825]
xref: DOID:0060303 {source="MONDO:equivalentTo"}
xref: GARD:18292 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="DOID:0060303"}
xref: MEDGEN:462539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565165 {source="MONDO:equivalentTo"}
xref: NANDO:2200787 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613825 {source="DOID:0060303", source="MONDO:equivalentTo"}
xref: Orphanet:169150 {source="DOID:0060303", source="OMIM:613825"}
xref: UMLS:C3151189 {source="MEDGEN:462539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000015 {source="DC-OMIM:613825", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015700 {source="Orphanet:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency
intersection_of: MONDO:0000015 ! classic complement early component deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1358 ! C9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1358 {source="MONDO:mim2gene_medgen"} ! C9

[Term]
id: MONDO:0013446
name: Leber congenital amaurosis 6
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10490", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LCA6" EXACT ABBREVIATION [DOID:0110329, MONDO:Lexical, OMIM:613826]
synonym: "Leber congenital amaurosis 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613826]
synonym: "Leber congenital amaurosis caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 6" EXACT [DOID:0110329, MONDORULE:1, OMIM:613826]
synonym: "RPGRIP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110329 {source="MONDO:equivalentTo"}
xref: GARD:10490 {source="MONDO:GARD"}
xref: HGNC:13436 {source="GARD:0010490"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110329"}
xref: MEDGEN:344245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565327 {source="MONDO:equivalentTo"}
xref: OMIM:613826 {source="DOID:0110329", source="MONDO:equivalentTo"}
xref: UMLS:C1854260 {source="MEDGEN:344245", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:613826", source="DOID:0110329", source="MESH:C565327", source="MONDO:Redundant", source="OMIM:613826"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 ! RPGRIP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 {source="MONDO:mim2gene_medgen"} ! RPGRIP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10490/leber-congenital-amaurosis-6" xsd:anyURI {source="GARD:0010490"}

[Term]
id: MONDO:0013447
name: retinitis pigmentosa 48
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15720", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GUCA1B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 48" EXACT [MONDO:Lexical, OMIM:613827]
synonym: "retinitis pigmentosa caused by mutation in GUCA1B" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 48" EXACT [DOID:0110382, MONDORULE:2, OMIM:613827]
synonym: "RP48" EXACT ABBREVIATION [DOID:0110382, MONDO:Lexical, OMIM:613827]
xref: DOID:0110382 {source="MONDO:equivalentTo"}
xref: GARD:15720 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110382"}
xref: MEDGEN:462540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613827 {source="MONDO:equivalentTo", source="DOID:0110382"}
xref: UMLS:C3151190 {source="MONDO:equivalentTo", source="MEDGEN:462540", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:613827", source="DOID:0110382", source="MONDO:Redundant", source="OMIM:613827"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4679 ! GUCA1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4679 {source="MONDO:mim2gene_medgen"} ! GUCA1B

[Term]
id: MONDO:0013448
name: generalized epilepsy with febrile seizures plus, type 8
subset: gard_rare {source="GARD:18664", source="MONDO:GARD"}
subset: rare
synonym: "Gefs+, type 8" RELATED [OMIM:613828]
synonym: "GEFSP8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613828]
synonym: "generalized epilepsy with febrile seizures plus, type 8" EXACT [MONDO:Lexical, OMIM:613828]
xref: DOID:0111299 {source="MONDO:equivalentTo"}
xref: GARD:18664 {source="MONDO:GARD"}
xref: MEDGEN:462541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613828 {source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="OMIM:613828"}
xref: UMLS:C3151191 {source="MEDGEN:462541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018214 {source="DC-OMIM:613828", source="OMIM:613828"} ! generalized epilepsy with febrile seizures plus

[Term]
id: MONDO:0013449
name: Leber congenital amaurosis 7
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10880", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CRX Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA7" EXACT ABBREVIATION [DOID:0110333, MONDO:Lexical, OMIM:613829]
synonym: "Leber congenital amaurosis 7" EXACT [MONDO:Lexical, OMIM:613829]
synonym: "Leber congenital amaurosis caused by mutation in CRX" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 7" EXACT [DOID:0110333, MONDORULE:1, OMIM:613829]
xref: DOID:0110333 {source="MONDO:equivalentTo"}
xref: GARD:10880 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110333"}
xref: MEDGEN:462542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613829 {source="MONDO:equivalentTo", source="DOID:0110333"}
xref: Orphanet:65 {source="OMIM:613829"}
xref: UMLS:C3151192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462542"}
is_a: MONDO:0018998 {source="DC-OMIM:613829", source="DOID:0110333", source="MONDO:Redundant", source="OMIM:613829"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 ! CRX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 {source="MONDO:mim2gene_medgen"} ! CRX
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7" xsd:anyURI {source="GARD:0010880"}

[Term]
id: MONDO:0013450
name: congenital stationary night blindness 1D
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15721", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness 1D" EXACT CLINGEN_LABEL []
synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT [DOID:0110868]
synonym: "congenital stationary night blindness caused by mutation in SLC24A1" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1D" EXACT [DOID:0110868, MONDORULE:4]
synonym: "Csnb, complete, autosomal recessive" RELATED [OMIM:613830]
synonym: "CSNB1D" EXACT ABBREVIATION [DOID:0110868, MONDO:Lexical, OMIM:613830]
synonym: "night blindness, congenital stationary (complete), 1D, autosomal recessive" EXACT [OMIM:613830, OMIM:genemap2]
synonym: "night blindness, congenital stationary, type 1D" RELATED [MONDO:Lexical, OMIM:613830]
synonym: "SLC24A1 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110868 {source="MONDO:equivalentTo"}
xref: GARD:15721 {source="MONDO:GARD"}
xref: MEDGEN:462543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613830 {source="DOID:0110868", source="MONDO:equivalentTo"}
xref: UMLS:C3151193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462543"}
is_a: MONDO:0016293 {source="DC-OMIM:613830", source="DOID:0110868", source="MONDO:Redundant", source="OMIM:613830"} ! congenital stationary night blindness
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10975 ! SLC24A1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10975 {source="MONDO:mim2gene_medgen"} ! SLC24A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013451
name: obsolete progressive myoclonic epilepsy type 5
comment: OMIM merged these
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1707" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011835

[Term]
id: MONDO:0013452
name: multisystemic smooth muscle dysfunction syndrome
def: "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals." [https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome]
subset: gard_rare {source="GARD:12811", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404463"}
subset: orphanet_rare {source="Orphanet:404463"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [GARD:0012811]
synonym: "multisystemic smooth muscle dysfunction syndrome" EXACT [OMIM:613834]
synonym: "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [OMIM:613834]
xref: GARD:12811 {source="MONDO:GARD"}
xref: ICD10CM:I73.8 {source="Orphanet:404463", source="Orphanet:404463/attributed", source="Orphanet:404463/ntbt"}
xref: MEDGEN:462551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613834 {source="Orphanet:404463/e", source="MONDO:equivalentTo", source="Orphanet:404463"}
xref: Orphanet:404463 {source="MONDO:equivalentTo", source="OMIM:613834"}
xref: UMLS:C3151201 {source="MONDO:equivalentTo", source="MEDGEN:462551", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 ! vascular disorder
is_a: MONDO:0021189 {source="Orphanet:404463"} ! intestinal motility disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106", source="MONDO:0015184", source="MONDO:0015511", source="MONDO:0019110"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 {source="MONDO:mim2gene_medgen"} ! ACTA2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome" xsd:anyURI {source="GARD:0012811"}

[Term]
id: MONDO:0013453
name: Leber congenital amaurosis 8
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CRB1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA8" EXACT ABBREVIATION [DOID:0110079, MONDO:Lexical, OMIM:613835]
synonym: "Leber congenital amaurosis 8" EXACT [MONDO:Lexical, OMIM:613835]
synonym: "Leber congenital amaurosis caused by mutation in CRB1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 8" EXACT [DOID:0110079, MONDORULE:1, OMIM:613835]
xref: DOID:0110079 {source="MONDO:equivalentTo"}
xref: GARD:10881 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110079"}
xref: MEDGEN:462552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613835 {source="MONDO:equivalentTo", source="DOID:0110079"}
xref: UMLS:C3151202 {source="MEDGEN:462552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:613835", source="DOID:0110079", source="MONDO:Redundant", source="OMIM:613835"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 ! CRB1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2343 {source="MONDO:mim2gene_medgen"} ! CRB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10881/leber-congenital-amaurosis-8" xsd:anyURI {source="GARD:0010881"}

[Term]
id: MONDO:0013454
name: Leber congenital amaurosis 11
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 11" RELATED [GARD:0010488]
synonym: "IMPDH1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA11" EXACT ABBREVIATION [DOID:0110216, MONDO:Lexical, OMIM:613837]
synonym: "Leber congenital amaurosis 11" EXACT [MONDO:Lexical, OMIM:613837]
synonym: "Leber congenital amaurosis caused by mutation in IMPDH1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 11" EXACT [DOID:0110216, MONDORULE:2, OMIM:613837]
xref: DOID:0110216 {source="MONDO:equivalentTo"}
xref: GARD:10488 {source="MONDO:GARD"}
xref: HGNC:6052 {source="GARD:0010488"}
xref: ICD10CM:H35.5 {source="DOID:0110216", source="MONDO:relatedTo"}
xref: MEDGEN:326698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564140 {source="MONDO:equivalentTo"}
xref: OMIM:613837 {source="DOID:0110216", source="MONDO:equivalentTo"}
xref: UMLS:C1840284 {source="MEDGEN:326698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:613837", source="DOID:0110216", source="MESH:C564140", source="MONDO:Redundant", source="OMIM:613837"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6052 ! IMPDH1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6052 {source="MONDO:mim2gene_medgen"} ! IMPDH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10488/leber-congenital-amaurosis-11" xsd:anyURI {source="GARD:0010488"}

[Term]
id: MONDO:0013455
name: hypertrophic cardiomyopathy 16
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 16" EXACT [DOID:0110322]
synonym: "cardiomyopathy, familial hypertrophic, 16" RELATED [MONDO:Lexical, OMIM:613838]
synonym: "cardiomyopathy, familial hypertrophic, type 16" EXACT [MONDORULE:2, OMIM:613838]
synonym: "cardiomyopathy, hypertrophic, 16" EXACT [OMIM:613838, OMIM:genemap2]
synonym: "CMH16" EXACT ABBREVIATION [DOID:0110322, MONDO:Lexical, OMIM:613838]
synonym: "hypertrophic cardiomyopathy caused by mutation in MYOZ2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 16" EXACT [DOID:0110322, MONDORULE:2]
synonym: "MYOZ2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110322 {source="MONDO:equivalentTo"}
xref: MEDGEN:462554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613838 {source="MONDO:equivalentTo", source="DOID:0110322"}
xref: Orphanet:155 {source="OMIM:613838"}
xref: UMLS:C3151204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462554"}
is_a: MONDO:0005045 {source="DC-OMIM:613838", source="DOID:0110322", source="MONDO:Redundant", source="OMIM:613838"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613838"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1330 ! MYOZ2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1330 {source="MONDO:mim2gene_medgen"} ! MYOZ2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013456
name: constitutional megaloblastic anemia with severe neurologic disease
subset: gard_rare {source="GARD:11000", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319651"}
subset: orphanet_rare {source="Orphanet:319651"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DHFR deficiency" EXACT [OMIM:613839, Orphanet:319651]
synonym: "dihydrofolate reductase deficiency" EXACT [Orphanet:319651]
synonym: "megaloblastic anaemia due to dihydrofolate reductase deficiency" RELATED OMO:0003005 []
synonym: "megaloblastic anemia due to dihydrofolate reductase deficiency" RELATED [OMIM:613839]
xref: GARD:11000 {source="MONDO:GARD"}
xref: ICD10CM:D52.8 {source="Orphanet:319651", source="Orphanet:319651/attributed", source="Orphanet:319651/ntbt"}
xref: MEDGEN:462555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565095 {source="MONDO:equivalentTo"}
xref: OMIM:613839 {source="MONDO:equivalentTo", source="Orphanet:319651", source="Orphanet:319651/e"}
xref: Orphanet:319651 {source="MONDO:equivalentTo", source="OMIM:613839"}
xref: SCTID:124178006 {source="MONDO:equivalentTo"}
xref: UMLS:C3151205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462555"}
is_a: MONDO:0001700 {source="DC-OMIM:613839", source="MONDO:indirect"} ! megaloblastic anemia
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0017313 {source="Orphanet:319651"} ! disorder of folate metabolism and transport
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2861 {source="MONDO:mim2gene_medgen"} ! DHFR

[Term]
id: MONDO:0013457
name: Leber congenital amaurosis 15
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10884", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LCA15" EXACT ABBREVIATION [DOID:0110189, MONDO:Lexical, OMIM:613843]
synonym: "Leber congenital amaurosis 15" EXACT [MONDO:Lexical, OMIM:613843]
synonym: "Leber congenital amaurosis caused by mutation in TULP1" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 15" EXACT [DOID:0110189, MONDORULE:2, OMIM:613843]
synonym: "retinitis pigmentosa, juvenile, Tulp1-related" RELATED [OMIM:613843]
synonym: "TULP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110189 {source="MONDO:equivalentTo"}
xref: GARD:10884 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110189"}
xref: MEDGEN:462556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613843 {source="MONDO:equivalentTo", source="DOID:0110189"}
xref: UMLS:C3151206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462556"}
is_a: MONDO:0018998 {source="DC-OMIM:613843", source="DOID:0110189", source="MONDO:Redundant", source="OMIM:613843"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12423 ! TULP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12423 {source="MONDO:mim2gene_medgen"} ! TULP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10884/leber-congenital-amaurosis-15" xsd:anyURI {source="GARD:0010884"}

[Term]
id: MONDO:0013458
name: hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
subset: gard_rare {source="GARD:17569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363694"}
subset: orphanet_rare {source="Orphanet:363694"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HUPRA syndrome" EXACT [Orphanet:363694]
synonym: "Hupra syndrome" RELATED [OMIM:613845]
synonym: "HUPRAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613845]
synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" EXACT [OMIM:613845, OMIM:genemap2]
synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" RELATED [MONDO:Lexical, OMIM:613845]
xref: GARD:17569 {source="MONDO:GARD"}
xref: ICD10CM:N15.8 {source="Orphanet:363694", source="Orphanet:363694/attributed", source="Orphanet:363694/ntbt"}
xref: MEDGEN:462559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613845 {source="Orphanet:363694", source="MONDO:equivalentTo", source="Orphanet:363694/e"}
xref: Orphanet:363694 {source="MONDO:equivalentTo", source="OMIM:613845"}
xref: UMLS:C3151209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462559"}
is_a: MONDO:0005149 {source="MONDO:0017159-obsoleted"} ! pulmonary hypertension
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:363694"} ! inherited renal tubular disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17697 {source="MONDO:mim2gene_medgen"} ! SARS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013459
name: osteogenesis imperfecta type 10
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12874", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI type 10" RELATED [GARD:0012874]
synonym: "OI type X" RELATED [GARD:0012874]
synonym: "OI, type 10" RELATED [OMIM:613848]
synonym: "OI10" EXACT ABBREVIATION [DOID:0110346, MONDO:Lexical, OMIM:613848]
synonym: "osteogenesis imperfecta caused by mutation in SERPINH1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type X" EXACT [DOID:0110346]
synonym: "osteogenesis imperfecta, type 10" RELATED [OMIM:613848]
synonym: "osteogenesis imperfecta, type X" RELATED [MONDO:Lexical, OMIM:613848]
synonym: "SERPINH1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110346 {source="MONDO:equivalentTo"}
xref: GARD:12874 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110346"}
xref: MEDGEN:462561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613848 {source="DOID:0110346", source="MONDO:equivalentTo"}
xref: Orphanet:216812 {source="OMIM:613848", source="MONDO:directSiblingOf"}
xref: UMLS:C3151211 {source="MEDGEN:462561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:613848", source="DOID:0110346", source="MONDO:Redundant", source="OMIM:613848"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1546 ! SERPINH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1546 {source="MONDO:mim2gene_medgen"} ! SERPINH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013460
name: osteogenesis imperfecta type 12
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI, type 12" RELATED [OMIM:613849]
synonym: "OI12" EXACT ABBREVIATION [DOID:0110348, MONDO:Lexical, OMIM:613849]
synonym: "osteogenesis imperfecta caused by mutation in SP7" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XII" EXACT [DOID:0110348]
synonym: "osteogenesis imperfecta, type 12" RELATED [OMIM:613849]
synonym: "osteogenesis imperfecta, type XII" RELATED [MONDO:Lexical, OMIM:613849]
synonym: "SP7 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110348 {source="MONDO:equivalentTo"}
xref: GARD:15722 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110348"}
xref: MEDGEN:462783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613849 {source="DOID:0110348", source="MONDO:equivalentTo"}
xref: Orphanet:216820 {source="MONDO:directSiblingOf", source="OMIM:613849"}
xref: UMLS:C3151433 {source="MEDGEN:462783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:613849", source="DOID:0110348", source="MONDO:Redundant", source="OMIM:613849"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17321 ! SP7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17321 {source="MONDO:mim2gene_medgen"} ! SP7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013461
name: inosine triphosphatase deficiency
def: "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes." [NCIT:C129974]
subset: otar {source="MONDO:OTAR"}
synonym: "inosine triphosphatase deficiency" EXACT [OMIM:613850, OMIM:genemap2]
synonym: "inosine triphosphate pyrophosphohydrolase deficiency" RELATED [OMIM:613850]
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:452450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564127 {source="MONDO:equivalentTo"}
xref: NCIT:C129974 {source="MONDO:equivalentTo"}
xref: OMIM:613850 {source="MONDO:equivalentTo"}
xref: Orphanet:319684 {source="OMIM:613850", source="MONDO:equivalentObsolete"}
xref: SCTID:238011005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342800 {source="MEDGEN:452450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C564127/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6176 {source="MONDO:mim2gene_medgen"} ! ITPA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013462
name: fucosyltransferase 6 deficiency
subset: otar {source="MONDO:OTAR"}
synonym: "fucosyltransferase 6 deficiency" EXACT [OMIM:613852, OMIM:genemap2]
xref: MEDGEN:462569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613852 {source="MONDO:equivalentTo"}
xref: UMLS:C3151219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462569"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4017 {source="MONDO:mim2gene_medgen"} ! FUT6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013463
name: congenital heart defects, multiple types, 6
def: "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHTD6" RELATED ABBREVIATION [OMIM:613854]
synonym: "congenital heart defects, multiple types, 6" EXACT [OMIM:613854]
synonym: "dextro-looped transposition of the great arteries 3" EXACT [OMIM:613854]
synonym: "dextro-looped transposition of the great arteries caused by mutation in GDF1" EXACT [MONDO:design_pattern]
synonym: "dextro-looped transposition of the great arteries type 3" EXACT [DOID:0060772, MONDORULE:1]
synonym: "DTGA3" EXACT ABBREVIATION [DOID:0060772, MONDO:Lexical, OMIM:613854]
synonym: "GDF1 dextro-looped transposition of the great arteries" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "transposition of the great arteries, dextro-looped 3" RELATED [MONDO:Lexical, OMIM:613854]
synonym: "transposition of the great arteries, dextro-looped 3, formerly" RELATED [OMIM:613854]
synonym: "transposition of the great arteries, dextro-looped type 3" EXACT [MONDORULE:1, OMIM:613854]
xref: DOID:0060772 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q20.3 {source="DOID:0060772"}
xref: MEDGEN:462571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613854 {source="DOID:0060772", source="MONDO:equivalentTo"}
xref: Orphanet:860 {source="OMIM:613854"}
xref: UMLS:C3151221 {source="MEDGEN:462571", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000119 {source="https://orcid.org/0000-0001-5493-2602"} ! congenital heart defects, multiple types
intersection_of: MONDO:0019443 ! dextro-looped transposition of the great arteries
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4214 ! GDF1
relationship: excluded_subClassOf MONDO:0019443 {source="DOID:0060772", source="OMIM:613854", source="https://orcid.org/0000-0001-5208-3432"} ! dextro-looped transposition of the great arteries
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4214 {source="MONDO:mim2gene_medgen"} ! GDF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5348" xsd:anyURI

[Term]
id: MONDO:0013464
name: episodic ataxia type 5
def: "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours." [Orphanet:211067]
subset: gard_rare {source="GARD:17113", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:211067"}
subset: orphanet_rare {source="Orphanet:211067"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CACNB4 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613855]
synonym: "episodic ataxia, type 5" RELATED [MONDO:Lexical, OMIM:613855]
synonym: "hereditary episodic ataxia caused by mutation in CACNB4" EXACT [MONDO:design_pattern]
xref: DOID:0050993 {source="MONDO:equivalentTo"}
xref: GARD:17113 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:211067", source="Orphanet:211067/attributed", source="Orphanet:211067/ntbt"}
xref: MEDGEN:356142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566601 {source="MONDO:equivalentTo"}
xref: OMIM:613855 {source="Orphanet:211067", source="DOID:0050993", source="MONDO:equivalentTo", source="Orphanet:211067/e"}
xref: Orphanet:211067 {source="MONDO:equivalentTo", source="OMIM:613855"}
xref: SCTID:718756005 {source="MONDO:equivalentTo"}
xref: UMLS:C1866039 {source="MEDGEN:356142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016227 {source="DOID:0050993", source="MONDO:Redundant", source="OMIM:613855", source="Orphanet:211067"} ! hereditary episodic ataxia
intersection_of: MONDO:0016227 ! hereditary episodic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1404 ! CACNB4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1404 {source="MONDO:mim2gene_medgen"} ! CACNB4

[Term]
id: MONDO:0013465
name: achromatopsia 4
def: "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15723", source="MONDO:GARD"}
subset: rare
synonym: "ACHM4" EXACT ABBREVIATION [DOID:0110010, MONDO:Lexical, OMIM:613856]
synonym: "achromatopsia 4" EXACT [MONDO:Lexical, OMIM:613856]
synonym: "achromatopsia caused by mutation in GNAT2" EXACT [MONDO:design_pattern]
synonym: "achromatopsia type 4" EXACT [DOID:0110010, MONDORULE:1, OMIM:613856]
synonym: "GNAT2 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110010 {source="MONDO:equivalentTo"}
xref: GARD:15723 {source="MONDO:GARD"}
xref: MEDGEN:330669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564206 {source="MONDO:equivalentTo"}
xref: OMIM:613856 {source="MONDO:equivalentTo", source="DOID:0110010"}
xref: Orphanet:49382 {source="OMIM:613856"}
xref: UMLS:C1841721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330669"}
is_a: MONDO:0018852 {source="DC-OMIM:613856", source="DOID:0110010", source="MONDO:Redundant"} ! achromatopsia
is_a: MONDO:0800392 {source="https://clinicalgenome.org/affiliation/40072/"} ! GNAT2-related retinopathy
intersection_of: MONDO:0018852 ! achromatopsia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4394 ! GNAT2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4394 {source="MONDO:mim2gene_medgen"} ! GNAT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0013466
name: orofacial cleft 13
synonym: "OFC13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613857]
synonym: "orofacial cleft 13" EXACT [MONDO:Lexical, OMIM:613857]
xref: DOID:0080406 {source="MONDO:equivalentTo"}
xref: MEDGEN:462572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613857 {source="MONDO:equivalentTo"}
xref: Orphanet:1991 {source="OMIM:613857"}
xref: UMLS:C3151222 {source="MEDGEN:462572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="DC-OMIM:613857", source="OMIM:613857"} ! orofacial cleft
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0013467
name: immunodeficiency due to ficolin3 deficiency
subset: gard_rare {source="GARD:17513", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:331190"}
subset: orphanet_rare {source="Orphanet:331190"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fcn3 deficiency" RELATED [OMIM:613860]
synonym: "ficolin 3 deficiency" RELATED [OMIM:613860]
synonym: "immunodeficiency due to ficolin 3 deficiency" RELATED [OMIM:613860]
synonym: "lectin complement activation pathway, defect in, 3" RELATED [OMIM:613860]
xref: GARD:17513 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:331190", source="Orphanet:331190/attributed", source="Orphanet:331190/ntbt"}
xref: MEDGEN:462576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200794 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613860 {source="MONDO:equivalentTo", source="Orphanet:331190", source="Orphanet:331190/e"}
xref: Orphanet:331190 {source="OMIM:613860", source="MONDO:equivalentTo"}
xref: SCTID:766705006 {source="MONDO:equivalentTo"}
xref: UMLS:C3151226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462576"}
is_a: MONDO:0003832 {source="Orphanet:331190"} ! complement deficiency
is_a: MONDO:0044209 {source="OMIM:613860"} ! disorder of lectin complement activation pathway
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3625 {source="MONDO:mim2gene_medgen"} ! FCN3

[Term]
id: MONDO:0013468
name: retinitis pigmentosa 59
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15724", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital disorder of glycosylation, type 1bb" EXACT [OMIM:613861, OMIM:genemap2]
synonym: "congenital disorder of glycosylation, type Ibb" RELATED [OMIM:613861]
synonym: "DHDDS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 59" EXACT [MONDO:Lexical, OMIM:613861]
synonym: "retinitis pigmentosa caused by mutation in DHDDS" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 59" EXACT [DOID:0110352, MONDORULE:2, OMIM:613861]
synonym: "RP59" EXACT ABBREVIATION [DOID:0110352, MONDO:Lexical, OMIM:613861]
xref: DOID:0110352 {source="MONDO:equivalentTo"}
xref: GARD:15724 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110352"}
xref: MEDGEN:462577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613861 {source="MONDO:equivalentTo", source="DOID:0110352"}
xref: UMLS:C3151227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462577"}
is_a: MONDO:0019200 {source="DC-OMIM:613861", source="DOID:0110352", source="MONDO:Redundant", source="OMIM:613861"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20603 ! DHDDS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20603 {source="MONDO:mim2gene_medgen"} ! DHDDS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013469
name: retinitis pigmentosa 38
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MERTK retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 38" EXACT [MONDO:Lexical, OMIM:613862]
synonym: "retinitis pigmentosa caused by mutation in MERTK" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 38" EXACT [DOID:0110367, MONDORULE:2, OMIM:613862]
synonym: "Rod-cone dystrophy, childhood-onset" RELATED [OMIM:613862]
synonym: "RP38" EXACT ABBREVIATION [DOID:0110367, MONDO:Lexical, OMIM:613862]
xref: DOID:0110367 {source="MONDO:equivalentTo"}
xref: GARD:15725 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110367"}
xref: MEDGEN:462578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613862 {source="MONDO:equivalentTo", source="DOID:0110367"}
xref: UMLS:C3151228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462578"}
is_a: MONDO:0019200 {source="DC-OMIM:613862", source="DOID:0110367", source="MONDO:Redundant", source="OMIM:613862"} ! retinitis pigmentosa
is_a: MONDO:0800394 {source="https://clinicalgenome.org/affiliation/40072/"} ! MERTK-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7027 ! MERTK
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7027 {source="MONDO:mim2gene_medgen"} ! MERTK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0013470
name: generalized epilepsy with febrile seizures plus, type 7
def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18665", source="MONDO:GARD"}
subset: rare
synonym: "febrile seizures, familial, 3B" RELATED [OMIM:613863]
synonym: "Gefs+, type 7" RELATED [OMIM:613863]
synonym: "GEFSP7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613863]
synonym: "generalised epilepsy with febrile seizures plus caused by mutation in SCN9A" EXACT OMO:0003005 []
synonym: "generalized epilepsy with febrile seizures plus caused by mutation in SCN9A" EXACT [MONDO:design_pattern]
synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT [MONDO:Lexical, OMIM:613863]
synonym: "SCN9A generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 []
synonym: "SCN9A generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111295 {source="MONDO:equivalentTo"}
xref: GARD:18665 {source="MONDO:GARD"}
xref: MEDGEN:416630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567827 {source="MONDO:equivalentTo"}
xref: OMIM:613863 {source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="OMIM:613863"}
xref: UMLS:C2751778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416630"}
is_a: MONDO:0018214 {source="DC-OMIM:613863", source="MONDO:Redundant", source="OMIM:613863"} ! generalized epilepsy with febrile seizures plus
intersection_of: MONDO:0018214 ! generalized epilepsy with febrile seizures plus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 ! SCN9A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A

[Term]
id: MONDO:0013471
name: autosomal recessive nonsyndromic hearing loss 61
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 61" NARROW [DOID:0110513]
synonym: "autosomal recessive nonsyndromic deafness 61" NARROW [OMIM:613865]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 61" NARROW [DOID:0110513, MONDORULE:2]
synonym: "deafness, autosomal recessive 61" NARROW [MONDO:Lexical, OMIM:613865, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 61" NARROW [MONDORULE:2, OMIM:613865]
synonym: "DFNB61" NARROW ABBREVIATION [DOID:0110513, MONDO:Lexical, OMIM:613865]
synonym: "SLC26A5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110513 {source="MONDO:equivalentTo"}
xref: GARD:22639 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110513"}
xref: MEDGEN:462580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613865 {source="DOID:0110513", source="MONDO:equivalentTo"}
xref: UMLS:C3151230 {source="MEDGEN:462580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:613865", source="DOID:0110513", source="MONDO:Redundant", source="OMIM:613865"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9359 ! SLC26A5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9359 {source="MONDO:mim2gene_medgen"} ! SLC26A5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013472
name: fatal infantile hypertonic myofibrillar myopathy
subset: gard_rare {source="GARD:17296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280553"}
subset: orphanet_rare {source="Orphanet:280553"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098, OMIM:613869]
synonym: "fatal infantile hypertonic myofibrillar myopathy" EXACT [Orphanet:280553]
synonym: "MFM, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869]
synonym: "myofibrillar myopathy type 7" RELATED [DOID:0080098]
synonym: "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869]
xref: DOID:0080309 {source="MONDO:equivalentTo"}
xref: GARD:17296 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:280553", source="Orphanet:280553/attributed", source="Orphanet:280553/ntbt"}
xref: MEDGEN:1684001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613869 {source="Orphanet:280553/e", source="MONDO:equivalentTo", source="Orphanet:280553", source="DOID:0080309"}
xref: Orphanet:280553 {source="MONDO:equivalentTo", source="OMIM:613869"}
xref: UMLS:C5190691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684001"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018943 {source="PMID:3672701", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0009-0001-6494-4831"} ! myofibrillar myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013473
name: Hirschsprung disease, cardiac defects, and autonomic dysfunction
synonym: "HCAD" RELATED ABBREVIATION [OMIM:613870]
synonym: "Hirschsprung disease, CARDIAC defects, and autonomic dysfunction" RELATED [OMIM:613870]
synonym: "Hirschsprung disease, cardiac defects, and autonomic dysfunction" EXACT [OMIM:613870]
xref: MEDGEN:462587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563939 {source="MONDO:equivalentTo"}
xref: OMIM:613870 {source="MONDO:equivalentTo"}
xref: UMLS:C3151237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462587"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3146 {source="MONDO:mim2gene_medgen"} ! ECE1

[Term]
id: MONDO:0013474
name: hypertrophic cardiomyopathy 17
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 17" EXACT [DOID:0110323]
synonym: "cardiomyopathy, familial hypertrophic, 17" RELATED [MONDO:Lexical, OMIM:613873]
synonym: "cardiomyopathy, familial hypertrophic, type 17" EXACT [MONDORULE:2, OMIM:613873]
synonym: "cardiomyopathy, hypertrophic, 17" EXACT [OMIM:613873, OMIM:genemap2]
synonym: "CMH17" EXACT ABBREVIATION [DOID:0110323, MONDO:Lexical, OMIM:613873]
synonym: "hypertrophic cardiomyopathy caused by mutation in JPH2" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 17" EXACT [DOID:0110323, MONDORULE:2]
synonym: "JPH2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110323 {source="MONDO:equivalentTo"}
xref: MEDGEN:462614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613873 {source="MONDO:equivalentTo", source="DOID:0110323"}
xref: Orphanet:155 {source="OMIM:613873"}
xref: UMLS:C3151264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462614"}
is_a: MONDO:0005045 {source="DC-OMIM:613873", source="DOID:0110323", source="MONDO:Redundant", source="OMIM:613873"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613873"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14202 ! JPH2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14202 {source="MONDO:mim2gene_medgen"} ! JPH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013475
name: hypertrophic cardiomyopathy 18
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 18" EXACT [DOID:0110324]
synonym: "cardiomyopathy, familial hypertrophic, 18" RELATED [MONDO:Lexical, OMIM:613874]
synonym: "cardiomyopathy, familial hypertrophic, type 18" EXACT [MONDORULE:2, OMIM:613874]
synonym: "cardiomyopathy, hypertrophic, 18" EXACT [OMIM:613874, OMIM:genemap2]
synonym: "CMH18" EXACT ABBREVIATION [DOID:0110324, MONDO:Lexical, OMIM:613874]
synonym: "hypertrophic cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 18" EXACT [DOID:0110324, MONDORULE:2]
synonym: "PLN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110324 {source="MONDO:equivalentTo"}
xref: MEDGEN:462615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613874 {source="DOID:0110324", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:613874"}
xref: UMLS:C3151265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462615"}
is_a: MONDO:0005045 {source="DC-OMIM:613874", source="DOID:0110324", source="MONDO:Redundant", source="OMIM:613874"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613874"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9080 ! PLN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9080 {source="MONDO:mim2gene_medgen"} ! PLN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013476
name: hypertrophic cardiomyopathy 19
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CALR3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy familial hypertrophic 19" EXACT [DOID:0110325]
synonym: "cardiomyopathy, familial hypertrophic, 19" RELATED [MONDO:Lexical, OMIM:613875]
synonym: "cardiomyopathy, familial hypertrophic, type 19" EXACT [MONDORULE:2, OMIM:613875]
synonym: "CMH19" EXACT ABBREVIATION [DOID:0110325, MONDO:Lexical, OMIM:613875]
synonym: "hypertrophic cardiomyopathy caused by mutation in CALR3" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 19" EXACT [DOID:0110325, MONDORULE:2]
xref: DOID:0110325 {source="MONDO:equivalentObsolete"}
xref: OMIM:613875 {source="DOID:0110325", source="MONDO:equivalentObsolete"}
xref: Orphanet:155 {source="OMIM:613875"}
is_a: MONDO:0005045 {source="DC-OMIM:613875", source="DOID:0110325", source="MONDO:Redundant", source="OMIM:613875"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613875"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20407 ! CALR3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20407 {source="MONDO:mim2gene_medgen"} ! CALR3

[Term]
id: MONDO:0013477
name: hypertrophic cardiomyopathy 20
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 20" EXACT [DOID:0110326]
synonym: "cardiomyopathy, familial hypertrophic, 20" RELATED [MONDO:Lexical, OMIM:613876]
synonym: "cardiomyopathy, familial hypertrophic, type 20" EXACT [MONDORULE:2, OMIM:613876]
synonym: "cardiomyopathy, hypertrophic, 20" EXACT [OMIM:613876, OMIM:genemap2]
synonym: "CMH20" EXACT ABBREVIATION [DOID:0110326, MONDO:Lexical, OMIM:613876]
synonym: "hypertrophic cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 20" EXACT [DOID:0110326, MONDORULE:2]
synonym: "NEXN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110326 {source="MONDO:equivalentTo"}
xref: MEDGEN:462617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613876 {source="DOID:0110326", source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="OMIM:613876"}
xref: UMLS:C3151267 {source="MEDGEN:462617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:613876", source="DOID:0110326", source="MONDO:Redundant", source="OMIM:613876"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613876"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29557 ! NEXN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29557 {source="MONDO:mim2gene_medgen"} ! NEXN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013478
name: PLIN1-related familial partial lipodystrophy
subset: gard_rare {source="GARD:12601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280356"}
subset: orphanet_rare {source="Orphanet:280356"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial partial lipodystrophy associated with PLIN1 mutations" RELATED [GARD:0012601]
synonym: "familial partial lipodystrophy type 4" RELATED [GARD:0012601]
synonym: "FPLD due to PLIN1 mutations" RELATED [GARD:0012601]
synonym: "FPLD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613877, Orphanet:280356]
synonym: "lipodystrophy, familial partial, associated with Plin1 mutations" RELATED [OMIM:613877]
synonym: "lipodystrophy, familial partial, type 4" RELATED [MONDO:Lexical, OMIM:613877]
synonym: "PLIN1-related FPLD" EXACT [Orphanet:280356]
xref: DOID:0070205 {source="MONDO:equivalentTo"}
xref: GARD:12601 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:280356/attributed", source="Orphanet:280356/ntbt", source="Orphanet:280356"}
xref: MEDGEN:1675945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613877 {source="Orphanet:280356/e", source="MONDO:equivalentTo", source="Orphanet:280356"}
xref: Orphanet:280356 {source="MONDO:equivalentTo", source="OMIM:613877"}
xref: UMLS:C5191005 {source="MEDGEN:1675945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020088 {source="DC-OMIM:613877", source="OMIM:613877", source="Orphanet:280356"} ! familial partial lipodystrophy
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9076 {source="MONDO:mim2gene_medgen"} ! PLIN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0013479
name: dilated cardiomyopathy 1HH
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15726", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BAG3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, dilated, 1HH" RELATED [MONDO:Lexical, OMIM:613881]
synonym: "cardiomyopathy, dilated, type 1Hh" EXACT [MONDORULE:9, OMIM:613881]
synonym: "CMD1HH" EXACT ABBREVIATION [DOID:0110448, MONDO:Lexical, OMIM:613881]
synonym: "dilated cardiomyopathy type 1HH" EXACT [DOID:0110448, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in BAG3" EXACT [MONDO:design_pattern]
xref: DOID:0110448 {source="MONDO:equivalentTo"}
xref: GARD:15726 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110448"}
xref: MEDGEN:462643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613881 {source="DOID:0110448", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:613881"}
xref: UMLS:C3151293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462643"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:613881"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/939 {source="MONDO:mim2gene_medgen"} ! BAG3

[Term]
id: MONDO:0013480
name: renal hypomagnesemia 6
subset: gard_rare {source="GARD:12155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HOMG6" EXACT ABBREVIATION [DOID:0060884, MONDO:Lexical, OMIM:613882]
synonym: "hypomagnesemia 6, renal" RELATED [MONDO:Lexical, OMIM:613882]
synonym: "renal hypomagnesemia type 6" EXACT [DOID:0060884, MONDORULE:1]
synonym: "renal hypomagnesemia-6" RELATED [GARD:0012155]
xref: DOID:0060884 {source="MONDO:equivalentTo"}
xref: GARD:12155 {source="MONDO:GARD"}
xref: ICD10CM:E83.4 {source="DOID:0060884"}
xref: MEDGEN:462645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613882 {source="DOID:0060884", source="MONDO:equivalentTo"}
xref: Orphanet:34527 {source="OMIM:613882", source="DOID:0060884"}
xref: UMLS:C3151295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462645"}
is_a: MONDO:0018100 {source="DOID:0060884", source="MONDO:Redundant", source="OMIM:613882"} ! familial primary hypomagnesemia
is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/103 {source="MONDO:mim2gene_medgen"} ! CNNM2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6" xsd:anyURI {source="GARD:0012155"}

[Term]
id: MONDO:0013481
name: chromosome 13q14 deletion syndrome
def: "Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism." [Orphanet:1587]
subset: gard_rare {source="GARD:16570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1587"}
subset: ordo_malformation_syndrome {source="Orphanet:1587"}
subset: orphanet_rare {source="Orphanet:1587"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 13Q deletion syndrome" RELATED [OMIM:613884]
synonym: "chromosome 13q14 deletion syndrome" EXACT [OMIM:613884]
synonym: "chromosome 13q14 deletion syndrome, isolated cases" EXACT [OMIM:613884, OMIM:genemap2]
synonym: "Del(13)(q14)" EXACT [Orphanet:1587]
synonym: "del(13q14)" EXACT [NCIT:C36421]
synonym: "deletion 13q14" EXACT [DOID:0060391, Orphanet:1587]
synonym: "monosomy 13q14" RELATED [Orphanet:1587]
synonym: "monosomy type 13q14" EXACT [MONDORULE:7, Orphanet:1587]
xref: DOID:0060391 {source="MONDO:equivalentTo"}
xref: GARD:16570 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1587/attributed", source="Orphanet:1587/ntbt", source="Orphanet:1587", source="DOID:0060391"}
xref: MEDGEN:462652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535484 {source="MONDO:relatedTo"}
xref: NCIT:C36421 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}
xref: OMIM:613884 {source="Orphanet:1587", source="MONDO:equivalentTo", source="Orphanet:1587/e", source="DOID:0060391"}
xref: Orphanet:1587 {source="OMIM:613884", source="MONDO:equivalentTo", source="DOID:0060391"}
xref: UMLS:C3151302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462652"}
is_a: MONDO:0000761 {source="DC-OMIM:613884", source="DOID:0060391"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0016911 {source="Orphanet:1587"} ! partial deletion of the long arm of chromosome 13
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr13q14 ! 13q14 (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1587", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0013482
name: Meckel syndrome, type 8
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15727", source="MONDO:GARD"}
subset: rare
synonym: "Meckel syndrome 8" RELATED [DOID:0070122]
synonym: "Meckel syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613885]
synonym: "Meckel-Gruber syndrome, type 8" EXACT [DOID:0070122]
synonym: "MKS8" EXACT ABBREVIATION [DOID:0070122, MONDO:Lexical, OMIM:613885]
synonym: "TCTN2 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070122 {source="MONDO:equivalentTo"}
xref: GARD:15727 {source="MONDO:GARD"}
xref: ICD10CM:Q61.9 {source="DOID:0070122"}
xref: MEDGEN:854220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613885 {source="DOID:0070122", source="MONDO:equivalentTo"}
xref: Orphanet:564 {source="OMIM:613885"}
xref: Orphanet:90674 {source="DOID:0070122", source="MONDO:relatedTo"}
xref: UMLS:C3836857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854220"}
is_a: MONDO:0018921 {source="DC-OMIM:613885", source="DOID:0070122", source="MONDO:Redundant", source="OMIM:613885"} ! Meckel syndrome
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25774 ! TCTN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25774 {source="MONDO:mim2gene_medgen"} ! TCTN2

[Term]
id: MONDO:0013483
name: obesity, hyperphagia, and developmental delay
subset: otar {source="MONDO:OTAR"}
synonym: "obesity, hyperphagia, and developmental delay" EXACT [MONDO:Lexical, OMIM:613886]
synonym: "OBHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613886]
xref: MEDGEN:462653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563938 {source="MONDO:equivalentTo"}
xref: OMIM:613886 {source="MONDO:equivalentTo"}
xref: UMLS:C3151303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462653"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8032 {source="MONDO:mim2gene_medgen"} ! NTRK2

[Term]
id: MONDO:0013484
name: cataract 36
def: "Any cataract in which the cause of the disease is a mutation in the TDRD7 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital cataract 4" EXACT [DOID:0110247]
synonym: "cataract (disease) caused by mutation in TDRD7" EXACT []
synonym: "cataract 36" EXACT [MONDO:Lexical, OMIM:613887]
synonym: "cataract type 36" EXACT [DOID:0110247, MONDORULE:2, OMIM:613887]
synonym: "cataract, autosomal recessive congenital 4" RELATED [OMIM:613887]
synonym: "CATC4" EXACT ABBREVIATION [DOID:0110247]
synonym: "CTRCT36" EXACT ABBREVIATION [DOID:0110247, MONDO:Lexical, OMIM:613887]
synonym: "TDRD7 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110247 {source="MONDO:equivalentTo"}
xref: MEDGEN:462654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613887 {source="DOID:0110247", source="MONDO:equivalentTo"}
xref: UMLS:C3151304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462654"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005129 {source="DC-OMIM:613887", source="DOID:0110247", source="OMIM:613887"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30831 ! TDRD7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30831 {source="MONDO:mim2gene_medgen"} ! TDRD7

[Term]
id: MONDO:0013485
name: spinocerebellar ataxia type 35
def: "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." [Orphanet:276193]
subset: gard_rare {source="GARD:12366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276193"}
subset: orphanet_rare {source="Orphanet:276193"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA35" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613908, Orphanet:276193]
synonym: "spinocerebellar ataxia 35" RELATED [MONDO:Lexical, OMIM:613908]
synonym: "spinocerebellar ataxia type 35" EXACT [MONDORULE:2, OMIM:613908]
xref: DOID:0050982 {source="MONDO:equivalentTo"}
xref: GARD:12366 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:276193/attributed", source="Orphanet:276193/ntbt", source="Orphanet:276193"}
xref: MEDGEN:854733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613908 {source="DOID:0050982", source="Orphanet:276193/e", source="MONDO:equivalentTo", source="Orphanet:276193"}
xref: Orphanet:276193 {source="OMIM:613908", source="MONDO:equivalentTo"}
xref: SCTID:719300001 {source="MONDO:equivalentTo"}
xref: UMLS:C3888031 {source="MEDGEN:854733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:276193"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16255 {source="MONDO:mim2gene_medgen"} ! TGM6

[Term]
id: MONDO:0013486
name: spinocerebellar ataxia type 32
def: "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males." [Orphanet:276183]
subset: gard_rare {source="GARD:17276", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276183"}
subset: orphanet_rare {source="Orphanet:276183"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar ataxia with azoospermia and intellectual disability" EXACT [Orphanet:276183]
synonym: "SCA32" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613909, Orphanet:276183]
synonym: "spinocerebellar ataxia 32" RELATED [MONDO:Lexical, OMIM:613909]
xref: GARD:17276 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:276183/attributed", source="Orphanet:276183/ntbt", source="Orphanet:276183"}
xref: MEDGEN:462693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613909 {source="Orphanet:276183/e", source="MONDO:equivalentTo", source="Orphanet:276183"}
xref: Orphanet:276183 {source="OMIM:613909", source="MONDO:equivalentTo"}
xref: SCTID:719254001 {source="MONDO:equivalentTo"}
xref: UMLS:C3151343 {source="MEDGEN:462693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:276183"} ! autosomal dominant cerebellar ataxia type I

[Term]
id: MONDO:0013487
name: recurrent Neisseria infections due to factor D deficiency
subset: gard_rare {source="GARD:17055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169467"}
subset: orphanet_rare {source="Orphanet:169467"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CFDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613912]
synonym: "complement factor D deficiency" RELATED [MONDO:Lexical, OMIM:613912]
synonym: "factor D deficiency" RELATED [OMIM:613912]
synonym: "recurrent Neisseria infections due to factor D deficiency" EXACT CLINGEN_LABEL []
xref: GARD:17055 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:169467", source="Orphanet:169467/attributed", source="Orphanet:169467/ntbt"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565027 {source="MONDO:equivalentTo"}
xref: NANDO:2200788 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613912 {source="Orphanet:169467", source="MONDO:equivalentTo", source="Orphanet:169467/e"}
xref: Orphanet:169467 {source="MONDO:equivalentTo", source="OMIM:613912"}
xref: SCTID:234607008 {source="MONDO:equivalentTo"}
xref: UMLS:C0398764 {source="MEDGEN:97989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003832 {source="https://orcid.org/0000-0001-5208-3432"} ! complement deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2771 {source="MONDO:mim2gene_medgen"} ! CFD

[Term]
id: MONDO:0013488
name: lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis
synonym: "APLDC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613913]
synonym: "lipodystrophy, partial, acquired, associated with C3 nephritic Factor" RELATED [OMIM:613913]
synonym: "lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis" RELATED [MONDO:Lexical, OMIM:613913]
xref: MEDGEN:462697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613913 {source="MONDO:equivalentTo"}
xref: UMLS:C3151347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462697"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013489
name: autosomal recessive nonsyndromic hearing loss 89
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 89" NARROW [DOID:0110534]
synonym: "autosomal recessive nonsyndromic deafness 89" NARROW [OMIM:613916]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in KARS" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 89" NARROW [DOID:0110534, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 89" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 89" NARROW [MONDO:Lexical, OMIM:613916, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 89" NARROW [MONDORULE:2, OMIM:613916]
synonym: "DFNB89" NARROW ABBREVIATION [DOID:0110534, MONDO:Lexical, OMIM:613916]
synonym: "KARS autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110534 {source="MONDO:equivalentTo"}
xref: GARD:22640 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110534"}
xref: MEDGEN:462701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613916 {source="DOID:0110534", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:613916"}
xref: UMLS:C3151351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462701"}
is_a: MONDO:0019588 {source="DC-OMIM:613916", source="DOID:0110534", source="MONDO:Redundant", source="OMIM:613916"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6215 ! KARS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6215 {source="MONDO:mim2gene_medgen"} ! KARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013490
name: megalencephalic leukoencephalopathy with subcortical cysts 2A
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15728", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2A" EXACT [MONDO:Lexical, OMIM:613925]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 2A" EXACT [MONDORULE:4, OMIM:613925]
synonym: "MLC2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613925]
xref: DOID:0080318 {source="MONDO:equivalentTo"}
xref: GARD:15728 {source="MONDO:GARD"}
xref: MEDGEN:462705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613925 {source="MONDO:equivalentTo"}
xref: Orphanet:2478 {source="OMIM:613925"}
xref: UMLS:C3151355 {source="MEDGEN:462705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:613925"} ! leukoencephalopathy, megalencephalic
is_a: MONDO:0011391 {source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26361 {source="MONDO:mim2gene_medgen"} ! HEPACAM

[Term]
id: MONDO:0013491
name: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" EXACT [MONDO:Lexical, OMIM:613926]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:613926]
synonym: "MLC2B" RELATED DEPRECATED [MONDO:Lexical, OMIM:613926]
xref: DOID:0080317 {source="MONDO:equivalentTo"}
xref: GARD:15729 {source="MONDO:GARD"}
xref: MEDGEN:462706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613926 {source="MONDO:equivalentTo"}
xref: Orphanet:2478 {source="OMIM:613926"}
xref: UMLS:C3151356 {source="MEDGEN:462706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:613926"} ! leukoencephalopathy, megalencephalic
is_a: MONDO:0011391 {source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26361 {source="MONDO:mim2gene_medgen"} ! HEPACAM

[Term]
id: MONDO:0013492
name: alopecia-intellectual disability syndrome 3
subset: gard_rare {source="GARD:15730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alopecia-intellectual disability syndrome 3" EXACT [MONDO:Lexical, OMIM:613930]
synonym: "alopecia-mental retardation syndrome 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613930]
synonym: "APMR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613930]
xref: DOID:0080951 {source="MONDO:equivalentTo"}
xref: GARD:15730 {source="MONDO:GARD"}
xref: MEDGEN:462712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613930 {source="MONDO:equivalentTo"}
xref: Orphanet:2850 {source="OMIM:613930"}
xref: UMLS:C3151362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462712"}
is_a: MONDO:0008756 {source="OMIM:613930"} ! alopecia - intellectual disability syndrome

[Term]
id: MONDO:0013493
name: acetyl-coa carboxylase deficiency
synonym: "Acaca deficiency" RELATED [OMIM:613933]
synonym: "ACACAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613933]
synonym: "Acc1 deficiency" RELATED [OMIM:613933]
synonym: "ACETYL-CoA carboxylase deficiency" RELATED [MONDO:Lexical, OMIM:613933]
xref: MEDGEN:124338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562678 {source="MONDO:equivalentTo"}
xref: OMIM:613933 {source="MONDO:equivalentTo"}
xref: UMLS:C0268603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124338"}
is_a: MONDO:0003847 {source="MESH:C562678/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/84 {source="MONDO:mim2gene_medgen"} ! ACACA

[Term]
id: MONDO:0013494
name: obsolete PSMNSW
comment: Replacing this with a non-mendelian form of this disease.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2083" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100226

[Term]
id: MONDO:0013495
name: autosomal recessive congenital ichthyosis 8
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16457", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI8" EXACT ABBREVIATION [DOID:0060717, MONDO:Lexical, OMIM:613943]
synonym: "autosomal recessive congenital ichthyosis type 8" EXACT [DOID:0060717, MONDORULE:1]
synonym: "ichthyosis, congenital, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:613943]
synonym: "ichthyosis, congenital, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:613943]
synonym: "ichthyosis, lamellar, 4" RELATED [OMIM:613943]
synonym: "ichthyosis, lamellar, 4, formerly" RELATED [OMIM:613943]
synonym: "lamellar ichthyosis 4" EXACT [DOID:0060717]
synonym: "lamellar ichthyosis, late-onset" RELATED [OMIM:613943]
synonym: "late-onset lamellar ichthyosis" EXACT [DOID:0060717]
xref: DOID:0060717 {source="MONDO:equivalentTo"}
xref: GARD:16457 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060717"}
xref: MEDGEN:765943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613943 {source="MONDO:equivalentTo", source="DOID:0060717"}
xref: Orphanet:313 {source="OMIM:613943"}
xref: UMLS:C3553029 {source="MEDGEN:765943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:613943"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis
intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23452 ! LIPN
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23452 {source="MONDO:mim2gene_medgen"} ! LIPN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013496
name: IgA nephropathy, susceptibility to, 2
subset: predisposition
synonym: "IgA nephropathy, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613944]
synonym: "IGAN2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613944]
xref: MEDGEN:462728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613944 {source="MONDO:equivalentTo"}
xref: Orphanet:34145 {source="OMIM:613944"}
xref: UMLS:C3151378 {source="MEDGEN:462728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:613944", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005342 {source="OMIM:613944", source="https://orcid.org/0000-0001-5208-3432"} ! IgA glomerulonephritis
relationship: predisposes_towards MONDO:0005342 {source="OMIM:613944"} ! IgA glomerulonephritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013497
name: Okt4 epitope deficiency
subset: otar {source="MONDO:OTAR"}
synonym: "Okt4 epitope deficiency" EXACT [OMIM:613949]
synonym: "T4 epitope deficiency" RELATED [OMIM:613949]
xref: MEDGEN:462729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613949 {source="MONDO:equivalentTo"}
xref: UMLS:C3151379 {source="MEDGEN:462729", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1678 {source="MONDO:mim2gene_medgen"} ! CD4

[Term]
id: MONDO:0013498
name: schizophrenia 15
def: "A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33." [DOID:0070091]
synonym: "schizophrenia 15" EXACT [MONDO:Lexical, OMIM:613950]
synonym: "schizophrenia 15 with or without an affective disorder" RELATED [OMIM:613950]
synonym: "schizophrenia susceptibility locus, chromosome 22Q13-related" RELATED [OMIM:613950]
synonym: "schizophrenia type 15" EXACT [MONDORULE:2, OMIM:613950]
synonym: "SCZD15" EXACT ABBREVIATION [DOID:0070091, MONDO:Lexical, OMIM:613950]
xref: DOID:0070091 {source="MONDO:equivalentTo"}
xref: MEDGEN:462730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613950 {source="MONDO:equivalentTo", source="DOID:0070091"}
xref: UMLS:C3151380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462730"}
is_a: MONDO:0005090 {source="DC-OMIM:613950", source="DOID:0070091", source="MONDO:Redundant"} ! schizophrenia
intersection_of: MONDO:0005090 ! schizophrenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14294 ! SHANK3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14294 {source="MONDO:mim2gene_medgen"} ! SHANK3

[Term]
id: MONDO:0013499
name: Fanconi anemia complementation group P
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fanconi anaemia caused by mutation in SLX4" EXACT OMO:0003005 []
synonym: "Fanconi anaemia caused by mutation in Slx4" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type P" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in SLX4" EXACT []
synonym: "Fanconi anemia caused by mutation in Slx4" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type P" EXACT [DOID:0111092, MONDORULE:1]
synonym: "Fanconi anemia, complementation group P" RELATED [MONDO:Lexical, OMIM:613951]
synonym: "Fanconi Anemia, complementation group type P" EXACT [MONDORULE:1, OMIM:613951]
synonym: "FANCP" EXACT ABBREVIATION [DOID:0111092, MONDO:Lexical, OMIM:613951]
synonym: "SLX4 Fanconi anaemia" EXACT OMO:0003005 []
synonym: "Slx4 Fanconi anaemia" EXACT OMO:0003005 []
synonym: "SLX4 Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Slx4 Fanconi anemia" EXACT [MONDO:design_pattern]
xref: DOID:0111092 {source="MONDO:equivalentTo"}
xref: GARD:15731 {source="MONDO:GARD"}
xref: MEDGEN:854020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613951 {source="DOID:0111092", source="MONDO:equivalentTo"}
xref: UMLS:C3469542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854020"}
is_a: MONDO:0019391 {source="DC-OMIM:613951", source="DOID:0111092", source="MONDO:Redundant", source="OMIM:613951"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23845 ! SLX4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23845 {source="MONDO:mim2gene_medgen"} ! SLX4

[Term]
id: MONDO:0013500
name: immunodeficiency 51
subset: gard_rare {source="GARD:15732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CANDF5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED DEPRECATED [OMIM:613953]
synonym: "candidiasis, familial, 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953]
synonym: "candidiasis, familial, 5, formerly" RELATED [OMIM:613953]
synonym: "candidiasis, familial, type 5" RELATED DEPRECATED [MONDORULE:1, OMIM:613953]
synonym: "IMD51" RELATED ABBREVIATION [OMIM:613953]
synonym: "immunodeficiency 51" EXACT CLINGEN_LABEL [OMIM:613953]
xref: DOID:0111996 {source="MONDO:equivalentTo"}
xref: GARD:15732 {source="MONDO:GARD"}
xref: MEDGEN:934770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613953 {source="MONDO:equivalentTo"}
xref: Orphanet:1334 {source="MONDO:relatedTo", source="OMIM:613953"}
xref: UMLS:C4310803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934770"}
intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5985 ! IL17RA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5985 {source="MONDO:mim2gene_medgen"} ! IL17RA

[Term]
id: MONDO:0013501
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS14" RELATED EXCLUDE [DOID:0060205, MONDO:Lexical, OMIM:613954]
synonym: "amyotrophic lateral sclerosis 14" RELATED EXCLUDE [DOID:0060205, OMIM:613954]
synonym: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly" RELATED EXCLUDE [MONDO:Lexical, OMIM:613954]
synonym: "amyotrophic lateral sclerosis caused by mutation in VCP" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [DOID:0060205, OMIM:613954]
synonym: "VCP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060205 {source="MONDO:equivalentTo"}
xref: GARD:15733 {source="MONDO:GARD"}
xref: MEDGEN:1759760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613954 {source="MONDO:equivalentTo", source="DOID:0060205"}
xref: Orphanet:275872 {source="OMIM:613954"}
xref: Orphanet:803 {source="OMIM:613954"}
xref: UMLS:C5436279 {source="MEDGEN:1759760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DOID:0060205", source="MONDO:Redundant", source="OMIM:613954"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease
is_a: MONDO:0030923 {source="OMIM:613954"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 ! VCP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 {source="MONDO:mim2gene_medgen"} ! VCP

[Term]
id: MONDO:0013502
name: amyloidosis, primary localized cutaneous, 2
subset: gard_rare {source="GARD:18638", source="MONDO:GARD"}
subset: rare
synonym: "amyloidosis, primary localised cutaneous, type 2" EXACT OMO:0003005 []
synonym: "amyloidosis, primary localized cutaneous, 2" EXACT [MONDO:Lexical, OMIM:613955]
synonym: "amyloidosis, primary localized cutaneous, type 2" EXACT [MONDORULE:1, OMIM:613955]
synonym: "PLCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613955]
xref: DOID:0080931 {source="MONDO:equivalentTo"}
xref: GARD:18638 {source="MONDO:GARD"}
xref: MEDGEN:462754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613955 {source="MONDO:equivalentTo"}
xref: Orphanet:353220 {source="OMIM:613955"}
xref: UMLS:C3151404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462754"}
is_a: MONDO:0007101 {source="MONDO:Redundant", source="Orphanet:353220/btnt"} ! familial primary localized cutaneous amyloidosis
intersection_of: MONDO:0007101 ! familial primary localized cutaneous amyloidosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18969 ! IL31RA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18969 {source="MONDO:mim2gene_medgen"} ! IL31RA

[Term]
id: MONDO:0013503
name: candidiasis, familial, 6
def: "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15093", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CANDF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613956]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [OMIM:613956]
synonym: "candidiasis, familial, 6" EXACT [MONDO:Lexical, OMIM:613956]
synonym: "candidiasis, familial, 6, autosomal dominant" EXACT [OMIM:613956, OMIM:genemap2]
synonym: "candidiasis, familial, type 6" EXACT [MONDORULE:1, OMIM:613956]
synonym: "familial chronic mucocutaneous candidiasis caused by mutation in IL17F" EXACT [MONDO:design_pattern]
synonym: "IL17F familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15093 {source="MONDO:GARD"}
xref: MEDGEN:462755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613956 {source="MONDO:equivalentTo"}
xref: UMLS:C3151405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462755"}
is_a: MONDO:0015279 {source="MONDO:Redundant", source="OMIM:613956"} ! chronic mucocutaneous candidiasis
intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16404 ! IL17F
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16404 {source="MONDO:mim2gene_medgen"} ! IL17F
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013504
name: spermatogenic failure 8
def: "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15734", source="MONDO:GARD"}
subset: rare
synonym: "azoospermia caused by mutation in NR5A1" EXACT [MONDO:design_pattern]
synonym: "NR5A1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 8" EXACT [MONDO:Lexical, OMIM:613957]
synonym: "spermatogenic failure type 8" EXACT [MONDORULE:1, OMIM:613957]
synonym: "SPGF8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613957]
xref: DOID:0070169 {source="MONDO:equivalentTo"}
xref: GARD:15734 {source="MONDO:GARD"}
xref: MEDGEN:462756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613957 {source="MONDO:equivalentTo"}
xref: Orphanet:399805 {source="OMIM:613957"}
xref: UMLS:C3151406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462756"}
is_a: MONDO:0004983 {source="DC-OMIM:613957", source="MONDO:Redundant", source="OMIM:613957"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7983 ! NR5A1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 ! NR5A1
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1

[Term]
id: MONDO:0013505
name: spermatogenic failure 9
def: "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15735", source="MONDO:GARD"}
subset: rare
synonym: "azoospermia caused by mutation in DPY19L2" EXACT [MONDO:design_pattern]
synonym: "DPY19L2 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "globozoospermia, complete" RELATED [OMIM:613958]
synonym: "globozoospermia, total" RELATED [OMIM:613958]
synonym: "spermatogenic failure 9" EXACT [MONDO:Lexical, OMIM:613958]
synonym: "spermatogenic failure type 9" EXACT [MONDORULE:1, OMIM:613958]
synonym: "SPGF9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613958]
xref: DOID:0070175 {source="MONDO:equivalentObsolete"}
xref: DOID:0111156 {source="MONDO:equivalentTo"}
xref: GARD:15735 {source="MONDO:GARD"}
xref: MEDGEN:462757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613958 {source="MONDO:equivalentTo"}
xref: Orphanet:171709 {source="OMIM:613958"}
xref: Orphanet:399808 {source="OMIM:613958"}
xref: UMLS:C3151407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462757"}
is_a: MONDO:0004983 {source="DC-OMIM:613958", source="MONDO:Redundant", source="OMIM:613958"} ! spermatogenic failure
is_a: MONDO:0015746 {source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19414 ! DPY19L2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19414 ! DPY19L2
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19414 {source="MONDO:mim2gene_medgen"} ! DPY19L2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19414 {source="MONDO:mim2gene_medgen"} ! DPY19L2

[Term]
id: MONDO:0013506
name: schizophrenia 16
def: "A schizophrenia that has material basis in a mutation on chromosome 7q36.3." [DOID:0070092]
synonym: "chromosome 7Q36.3 Duplication syndrome, 362-Kb" RELATED [OMIM:613959]
synonym: "schizophrenia 16" EXACT [MONDO:Lexical, OMIM:613959]
synonym: "schizophrenia susceptibility locus, chromosome 7Q36.3-related" RELATED [OMIM:613959]
synonym: "schizophrenia type 16" EXACT [MONDORULE:2, OMIM:613959]
synonym: "SCZD16" EXACT ABBREVIATION [DOID:0070092, MONDO:Lexical, OMIM:613959]
xref: DOID:0070092 {source="MONDO:equivalentTo"}
xref: MEDGEN:462758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613959 {source="MONDO:equivalentTo", source="DOID:0070092"}
xref: UMLS:C3151408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462758"}
is_a: MONDO:0001384 ! myopia
is_a: MONDO:0005090 {source="DC-OMIM:613959", source="DOID:0070092"} ! schizophrenia

[Term]
id: MONDO:0013507
name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
subset: gard_rare {source="GARD:15736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDG3" RELATED ABBREVIATION [OMIM:613960]
synonym: "CGD, autosomal recessive cytochrome B-positive, type 3" RELATED [OMIM:613960]
synonym: "chronic granulomatous disease 3, autosomal recessive" EXACT [OMIM:613960, OMIM:genemap2]
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3" EXACT CLINGEN_LABEL []
synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III" RELATED [OMIM:613960]
synonym: "granulomatous disease, chronic, due to Ncf4 deficiency" RELATED [OMIM:613960]
xref: DOID:0070194 {source="MONDO:equivalentTo"}
xref: GARD:15736 {source="MONDO:GARD"}
xref: MEDGEN:462759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201283 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:613960 {source="MONDO:equivalentTo"}
xref: Orphanet:379 {source="OMIM:613960"}
xref: UMLS:C3151409 {source="MEDGEN:462759", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018305 {source="DC-OMIM:613960", source="OMIM:613960"} ! chronic granulomatous disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7662 {source="MONDO:mim2gene_medgen"} ! NCF4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013508
name: myopia 19, autosomal dominant
synonym: "myopia 19, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613969]
synonym: "MYP19" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613969]
xref: MEDGEN:462760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613969 {source="MONDO:equivalentTo"}
xref: UMLS:C3151410 {source="MONDO:equivalentTo", source="MEDGEN:462760", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:613969", source="OMIM:613969"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013509
name: intellectual disability, autosomal dominant 6
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12851", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 6" EXACT [DOID:0070036]
synonym: "autosomal dominant mental retardation 6" EXACT DEPRECATED [DOID:0070036]
synonym: "autosomal dominant non-syndromic intellectual disability 6" RELATED [DOID:0070036]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B" EXACT [MONDO:design_pattern]
synonym: "GRIN2B autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal dominant 6, with or without seizures" EXACT [OMIM:613970, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613970]
synonym: "intellectual disability, autosomal dominant 6, with or without seizures" RELATED [OMIM:613970]
synonym: "intellectual disability, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:613970]
synonym: "mental retardation, autosomal dominant 6" RELATED DEPRECATED [MONDO:Lexical, OMIM:613970]
synonym: "mental retardation, autosomal dominant 6, with or without seizures" RELATED DEPRECATED [OMIM:613970]
synonym: "mental retardation, autosomal dominant type 6" EXACT DEPRECATED [MONDORULE:1, OMIM:613970]
synonym: "MRD6" EXACT ABBREVIATION [DOID:0070036, MONDO:Lexical, OMIM:613970]
xref: DOID:0070036 {source="MONDO:equivalentTo"}
xref: GARD:12851 {source="MONDO:GARD"}
xref: MEDGEN:462761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613970 {source="DOID:0070036", source="MONDO:equivalentTo"}
xref: UMLS:C3151411 {source="MEDGEN:462761", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:613970"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 ! GRIN2B
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 {source="MONDO:mim2gene_medgen"} ! GRIN2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013510
name: melanoma, cutaneous malignant, susceptibility to, 6
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "CMM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613972]
synonym: "melanoma, cutaneous malignant, 6" EXACT [OMIM:613972, OMIM:genemap2]
synonym: "melanoma, cutaneous malignant, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613972]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:613972]
synonym: "susceptibility to cutaneous malignant melanoma 6" RELATED [OMIM:613972]
xref: MEDGEN:462767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613972 {source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="OMIM:613972"}
xref: UMLS:C3151417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462767"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12830 ! XRCC3
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:613972", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12830 {source="MONDO:mim2gene_medgen"} ! XRCC3
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013511
name: cyanosis, transient neonatal
subset: otar {source="MONDO:OTAR"}
synonym: "cyanosis, transient neonatal" EXACT [MONDO:Lexical, OMIM:613977]
synonym: "TNCY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613977]
xref: MEDGEN:462771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613977 {source="MONDO:equivalentTo"}
xref: Orphanet:280615 {source="OMIM:613977"}
xref: UMLS:C3151421 {source="MONDO:equivalentTo", source="MEDGEN:462771", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4832 {source="MONDO:mim2gene_medgen"} ! HBG2

[Term]
id: MONDO:0013512
name: hemoglobin H disease
def: "Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2)." [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
subset: gard_rare {source="GARD:16829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93616"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha thalassemia, haemoglobin H type" EXACT OMO:0003005 []
synonym: "alpha thalassemia, hemoglobin H type" EXACT [DOID:0110031]
synonym: "Alpha-thalassemia intermedia" EXACT [Orphanet:93616]
synonym: "alpha-thalassemia intermedia" EXACT [DOID:0110031]
synonym: "Alpha-thalassemia, Haemoglobin H type" RELATED OMO:0003005 []
synonym: "Alpha-thalassemia, Hemoglobin H type" RELATED [OMIM:613978]
synonym: "Haemoglobin H disease, Deletional" RELATED OMO:0003005 []
synonym: "haemoglobin H disease, deletional" EXACT OMO:0003005 []
synonym: "haemoglobin H disease, deletional and nondeletional" EXACT OMO:0003005 []
synonym: "Haemoglobin H disease, Nondeletional" RELATED OMO:0003005 []
synonym: "HBA1;HBA2 digenic triallelic hemoglobin H disease" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
synonym: "HbH" EXACT [DOID:0110031, MONDO:Lexical, OMIM:613978]
synonym: "HbH disease" EXACT [Orphanet:93616]
synonym: "HEMOGLOBIN H disease" RELATED [OMIM:613978]
synonym: "hemoglobin H disease" EXACT [MONDO:Lexical, OMIM:613978]
synonym: "hemoglobin H disease caused by triallelic variation in HBA1;HBA2" EXACT [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
synonym: "hemoglobin H disease related to triallelic variation in HBA1 and HBA2" EXACT [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
synonym: "Hemoglobin H disease, Deletional" RELATED [OMIM:613978]
synonym: "hemoglobin H disease, deletional" EXACT [DOID:0110031]
synonym: "hemoglobin H disease, deletional and nondeletional" EXACT [OMIM:613978, OMIM:genemap2]
synonym: "Hemoglobin H disease, Nondeletional" RELATED [OMIM:613978]
xref: DOID:0110031 {source="MONDO:equivalentTo"}
xref: GARD:16829 {source="MONDO:GARD"}
xref: ICD10CM:D56.0 {source="DOID:0110031", source="Orphanet:93616/attributed", source="Orphanet:93616/ntbt", source="Orphanet:93616"}
xref: icd11.foundation:9436211 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:93616"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063435 {source="Orphanet:93616/e", source="Orphanet:93616"}
xref: MEDGEN:468531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95504 {source="MONDO:equivalentTo"}
xref: OMIM:613978 {source="Orphanet:93616/e", source="MONDO:equivalentTo", source="DOID:0110031", source="Orphanet:93616"}
xref: Orphanet:93616 {source="MONDO:equivalentTo", source="DOID:0110031", source="OMIM:613978"}
xref: SCTID:48553001 {source="MONDO:equivalentTo"}
xref: UMLS:C3161174 {source="MEDGEN:468531", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011399 {source="DOID:0110031", source="NCIT:C95504", source="Orphanet:93616"} ! alpha thalassemia spectrum
is_a: MONDO:0100563 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! digenic alpha thalassemia spectrum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7561" xsd:anyURI

[Term]
id: MONDO:0013513
name: atrial fibrillation, familial, 9
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15737", source="MONDO:GARD"}
subset: rare
synonym: "ATFB9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613980]
synonym: "atrial fibrillation, familial, 9" EXACT [MONDO:Lexical, OMIM:613980]
synonym: "atrial fibrillation, familial, type 9" EXACT [MONDORULE:1, OMIM:613980]
synonym: "familial atrial fibrillation caused by mutation in KCNJ2" EXACT [MONDO:design_pattern]
synonym: "KCNJ2 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15737 {source="MONDO:GARD"}
xref: MEDGEN:462781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613980 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:613980"}
xref: UMLS:C3151431 {source="MEDGEN:462781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:613980", source="MONDO:Redundant", source="OMIM:613980"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 ! KCNJ2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 {source="MONDO:mim2gene_medgen"} ! KCNJ2

[Term]
id: MONDO:0013514
name: hypotrichosis 3
def: "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18094", source="MONDO:GARD"}
subset: rare
synonym: "Htss2" EXACT [DOID:0110700]
synonym: "hypotrichosis 3" EXACT [MONDO:Lexical, OMIM:613981]
synonym: "hypotrichosis caused by mutation in KRT74" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis simplex of the scalp 2" EXACT [DOID:0110700, OMIM:613981]
synonym: "hypotrichosis type 3" EXACT [DOID:0110700, MONDORULE:1, OMIM:613981]
synonym: "HYPT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613981]
synonym: "hypt3" EXACT [DOID:0110700]
synonym: "KRT74 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110700 {source="MONDO:equivalentTo"}
xref: GARD:18094 {source="MONDO:GARD"}
xref: MEDGEN:462782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613981 {source="DOID:0110700", source="MONDO:equivalentTo"}
xref: Orphanet:90368 {source="OMIM:613981"}
xref: UMLS:C3151432 {source="MONDO:equivalentTo", source="MEDGEN:462782", source="MONDO:MEDGEN"}
is_a: MONDO:0003037 {source="DOID:0110700", source="MONDO:Redundant", source="OMIM:613981"} ! hypotrichosis
is_a: MONDO:0019575 {source="Orphanet:90368/btnt"} ! hypotrichosis simplex of the scalp
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 ! KRT74
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 {source="MONDO:mim2gene_medgen"} ! KRT74

[Term]
id: MONDO:0013515
name: osteogenesis imperfecta type 6
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:8700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI type 6" RELATED [GARD:0008700]
synonym: "OI type VI" RELATED [GARD:0008700]
synonym: "OI6" EXACT ABBREVIATION [DOID:0110350, MONDO:Lexical, OMIM:613982]
synonym: "osteogenesis imperfecta caused by mutation in SERPINF1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type" RELATED [GARD:0008700]
synonym: "osteogenesis imperfecta type VI" EXACT [DOID:0110350]
synonym: "osteogenesis imperfecta, type 6" RELATED [OMIM:613982]
synonym: "osteogenesis imperfecta, type VI" RELATED [MONDO:Lexical, OMIM:613982]
synonym: "SERPINF1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SERPINFI- related osteogenesis imperfecta" RELATED [GARD:0008700]
xref: DOID:0110350 {source="MONDO:equivalentTo"}
xref: GARD:8700 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110350"}
xref: MEDGEN:481194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536047 {source="MONDO:equivalentTo"}
xref: OMIM:613982 {source="MONDO:equivalentTo", source="DOID:0110350"}
xref: Orphanet:216812 {source="OMIM:613982", source="MONDO:directSiblingOf"}
xref: Orphanet:216820 {source="OMIM:613982", source="MONDO:directSiblingOf"}
xref: UMLS:C3279564 {source="MEDGEN:481194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:613982", source="DOID:0110350", source="MESH:C536047", source="MONDO:Redundant", source="OMIM:613982"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8824 ! SERPINF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8824 {source="MONDO:mim2gene_medgen"} ! SERPINF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013516
name: retinitis pigmentosa 60
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PRPF6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 60" EXACT [MONDO:Lexical, OMIM:613983]
synonym: "retinitis pigmentosa caused by mutation in PRPF6" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 60" EXACT [DOID:0110411, MONDORULE:2, OMIM:613983]
synonym: "RP60" EXACT ABBREVIATION [DOID:0110411, MONDO:Lexical, OMIM:613983]
xref: DOID:0110411 {source="MONDO:equivalentTo"}
xref: GARD:15738 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110411"}
xref: MEDGEN:462784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613983 {source="MONDO:equivalentTo", source="DOID:0110411"}
xref: UMLS:C3151434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462784"}
is_a: MONDO:0019200 {source="DC-OMIM:613983", source="DOID:0110411", source="MONDO:Redundant", source="OMIM:613983"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15860 ! PRPF6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15860 {source="MONDO:mim2gene_medgen"} ! PRPF6

[Term]
id: MONDO:0013517
name: beta-thalassemia HBB/LCRB
def: "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." [SCDO:0000251]
comment: OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095).
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "beta-thalassemia" RELATED [OMIM:613985]
synonym: "thalassemia, beta" EXACT [OMIM:613985, OMIM:genemap2]
synonym: "thalassemia, hispanic gamma-delta-beta" EXACT [OMIM:613985, OMIM:genemap2]
xref: OMIM:613985 {source="MONDO:equivalentTo"}
xref: Orphanet:231214 {source="OMIM:613985"}
xref: Orphanet:231222 {source="OMIM:613985"}
xref: Orphanet:848 {source="OMIM:613985"}
xref: SCDO:0000251 {source="MONDO:equivalentTo"}
is_a: MONDO:0019402 {source="DC-OMIM:613985"} ! beta thalassemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4827 {source="MONDO:mim2gene_medgen"} ! HBB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013518
name: pituitary hormone deficiency, combined, 6
def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2" EXACT [MONDO:design_pattern]
synonym: "CPHD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613986]
synonym: "OTX2 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pituitary hormone deficiency, combined, 6" EXACT [MONDO:Lexical, OMIM:613986]
synonym: "pituitary hormone deficiency, combined, type 6" EXACT [MONDORULE:1, OMIM:613986]
xref: GARD:16520 {source="MONDO:GARD"}
xref: MEDGEN:462790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613986 {source="MONDO:equivalentTo"}
xref: Orphanet:95494 {source="OMIM:613986"}
xref: UMLS:C3151440 {source="MEDGEN:462790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:613986", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form
intersection_of: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 ! OTX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 {source="MONDO:mim2gene_medgen"} ! OTX2

[Term]
id: MONDO:0013519
name: dyskeratosis congenita, autosomal recessive 2
def: "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3." [DOID:0070017]
subset: gard_rare {source="GARD:15739", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive dyskeratosis congenita 2" RELATED [DOID:0070017]
synonym: "DKCB2" EXACT ABBREVIATION [DOID:0070017, MONDO:Lexical, OMIM:613987]
synonym: "dyskeratosis congenita, autosomal recessive 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613987]
synonym: "dyskeratosis congenita, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:613987]
xref: DOID:0070017 {source="MONDO:equivalentTo"}
xref: GARD:15739 {source="MONDO:GARD"}
xref: MEDGEN:462791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176926 {source="MONDO:equivalentTo"}
xref: OMIM:613987 {source="MONDO:equivalentTo", source="DOID:0070017"}
xref: Orphanet:1775 {source="OMIM:613987"}
xref: UMLS:C3151441 {source="MEDGEN:462791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015780 {source="DC-OMIM:613987", source="DOID:0070017", source="MONDO:Redundant", source="OMIM:613987"} ! dyskeratosis congenita
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14377 ! NHP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14377 {source="MONDO:mim2gene_medgen"} ! NHP2

[Term]
id: MONDO:0013520
name: dyskeratosis congenita, autosomal recessive 3
def: "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1." [DOID:0070019]
subset: gard_rare {source="GARD:15740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive dyskeratosis congenita 3" RELATED [DOID:0070019]
synonym: "DKCB3" EXACT ABBREVIATION [DOID:0070019, MONDO:Lexical, OMIM:613988]
synonym: "dyskeratosis congenita, autosomal recessive 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613988]
synonym: "dyskeratosis congenita, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:613988]
xref: DOID:0070019 {source="MONDO:equivalentTo"}
xref: GARD:15740 {source="MONDO:GARD"}
xref: MEDGEN:462792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176927 {source="MONDO:equivalentTo"}
xref: OMIM:613988 {source="MONDO:equivalentTo", source="DOID:0070019"}
xref: Orphanet:1775 {source="OMIM:613988"}
xref: UMLS:C3151442 {source="MEDGEN:462792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015780 {source="DC-OMIM:613988", source="DOID:0070019", source="MONDO:Redundant", source="OMIM:613988"} ! dyskeratosis congenita
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25522 ! WRAP53
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25522 {source="MONDO:mim2gene_medgen"} ! WRAP53

[Term]
id: MONDO:0013521
name: dyskeratosis congenita, autosomal dominant 2
def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33." [DOID:0070016]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant dyskeratosis congenita 2" RELATED [DOID:0070016]
synonym: "DKCA2" EXACT ABBREVIATION [DOID:0070016, MONDO:Lexical, OMIM:613989]
synonym: "dyskeratosis congenita, autosomal dominant 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613989]
synonym: "dyskeratosis congenita, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:613989]
synonym: "dyskeratosis congenita, autosomal recessive 4" RELATED [OMIM:613989]
xref: DOID:0070016 {source="MONDO:equivalentTo"}
xref: GARD:15741 {source="MONDO:GARD"}
xref: MEDGEN:462793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176922 {source="MONDO:equivalentTo"}
xref: OMIM:613989 {source="DOID:0070016", source="MONDO:equivalentTo"}
xref: Orphanet:1775 {source="OMIM:613989"}
xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:613989"}
xref: UMLS:C3151443 {source="MONDO:equivalentTo", source="MEDGEN:462793", source="MONDO:MEDGEN"}
is_a: MONDO:0015780 {source="DOID:0070016", source="MONDO:Redundant", source="OMIM:613989"} ! dyskeratosis congenita
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 ! TERT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 {source="MONDO:mim2gene_medgen"} ! TERT

[Term]
id: MONDO:0013522
name: dyskeratosis congenita, autosomal dominant 3
def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12." [DOID:0070018]
subset: gard_rare {source="GARD:15742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant dyskeratosis congenita 3" RELATED [DOID:0070018]
synonym: "DKCA3" EXACT ABBREVIATION [DOID:0070018, MONDO:Lexical, OMIM:613990]
synonym: "dyskeratosis congenita, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:613990]
synonym: "dyskeratosis congenita, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:613990]
xref: DOID:0070018 {source="MONDO:equivalentTo"}
xref: GARD:15742 {source="MONDO:GARD"}
xref: MEDGEN:462795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176923 {source="MONDO:equivalentTo"}
xref: OMIM:613990 {source="MONDO:equivalentTo", source="DOID:0070018"}
xref: Orphanet:1775 {source="OMIM:613990"}
xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:613990"}
xref: UMLS:C3151445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462795"}
is_a: MONDO:0015780 {source="DOID:0070018", source="MONDO:Redundant", source="OMIM:613990"} ! dyskeratosis congenita
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11824 ! TINF2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11824 {source="MONDO:mim2gene_medgen"} ! TINF2

[Term]
id: MONDO:0013523
name: Nestor-Guillermo progeria syndrome
subset: gard_rare {source="GARD:11008", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280576"}
subset: ordo_malformation_syndrome {source="Orphanet:280576"}
subset: orphanet_rare {source="Orphanet:280576"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008]
synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576]
synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008]
synonym: "PSCOO" RELATED ABBREVIATION [GARD:0011008]
xref: DOID:0081334 {source="MONDO:equivalentTo"}
xref: GARD:11008 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:280576/attributed", source="Orphanet:280576/ntbt", source="Orphanet:280576"}
xref: MEDGEN:462796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614008 {source="Orphanet:280576/e", source="MONDO:equivalentTo", source="Orphanet:280576"}
xref: Orphanet:280576 {source="MONDO:equivalentTo", source="OMIM:614008"}
xref: UMLS:C3151446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462796"}
is_a: MONDO:0015333 {source="MONDO:Redundant", source="Orphanet:280576"} ! progeroid syndrome
is_a: MONDO:0019303 {source="MONDO:Redundant", source="Orphanet:280576"} ! premature aging syndrome
is_a: MONDO:0019707 {source="MONDO:Redundant", source="Orphanet:280576"} ! primary osteolysis
is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614008", source="Orphanet:280576"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17397 {source="MONDO:mim2gene_medgen"} ! BANF1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome" xsd:anyURI {source="GARD:0011008"}

[Term]
id: MONDO:0013524
name: obsolete bleeding diathesis due to thromboxane synthesis deficiency
subset: otar {source="MONDO:OTAR"}
xref: GARD:17132 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6419#issuecomment-1615253065" xsd:anyURI
is_obsolete: true
consider: MONDO:0800446
consider: MONDO:0800447

[Term]
id: MONDO:0013525
name: primary ciliary dyskinesia 16
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD16" EXACT ABBREVIATION [DOID:0110613, MONDO:Lexical, OMIM:614017]
synonym: "ciliary dyskinesia, primary, 16" RELATED [MONDO:Lexical, OMIM:614017]
synonym: "ciliary dyskinesia, primary, 16, with or without situs inversus" RELATED [OMIM:614017]
synonym: "ciliary dyskinesia, primary, type 16" EXACT [MONDORULE:2, OMIM:614017]
synonym: "DNAL1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT [DOID:0110613]
synonym: "primary ciliary dyskinesia caused by mutation in DNAL1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 16" EXACT [DOID:0110613, MONDORULE:2]
xref: DOID:0110613 {source="MONDO:equivalentTo"}
xref: GARD:15743 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110613"}
xref: MEDGEN:462810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614017 {source="DOID:0110613", source="MONDO:equivalentTo"}
xref: UMLS:C3151460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462810"}
is_a: MONDO:0016575 {source="DC-OMIM:614017", source="DOID:0110613", source="MONDO:Redundant", source="OMIM:614017"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23247 ! DNAL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23247 {source="MONDO:mim2gene_medgen"} ! DNAL1

[Term]
id: MONDO:0013526
name: progressive myoclonic epilepsy type 6
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:3872", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280620"}
subset: orphanet_rare {source="Orphanet:280620"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, progressive myoclonic 6" EXACT [OMIM:614018, OMIM:genemap2]
synonym: "epilepsy, progressive myoclonic, 6" RELATED [MONDO:Lexical, OMIM:614018]
synonym: "epilepsy, progressive myoclonic, type 6" EXACT [MONDORULE:1, OMIM:614018]
synonym: "EPM6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614018, Orphanet:280620]
synonym: "GOSR2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [Orphanet:280620]
synonym: "North Sea progressive myoclonus epilepsy" EXACT [Orphanet:280620]
synonym: "PME type 6" EXACT [Orphanet:280620]
synonym: "progressive myoclonic epilepsy caused by mutation in GOSR2" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonus epilepsy type 6" EXACT [Orphanet:280620]
xref: DOID:0111449 {source="MONDO:equivalentTo"}
xref: GARD:3872 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:280620/attributed", source="Orphanet:280620/ntbt", source="Orphanet:280620"}
xref: MEDGEN:1681379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614018 {source="Orphanet:280620/e", source="MONDO:equivalentTo", source="Orphanet:280620"}
xref: Orphanet:280620 {source="OMIM:614018", source="MONDO:equivalentTo"}
xref: UMLS:C5190805 {source="MEDGEN:1681379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020074 {source="DC-OMIM:614018", source="MONDO:Redundant", source="OMIM:614018", source="Orphanet:280620"} ! progressive myoclonus epilepsy
intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4431 ! GOSR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4431 {source="MONDO:mim2gene_medgen"} ! GOSR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013527
name: lissencephaly 4
def: "Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LIS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614019]
synonym: "lissencephaly (disease) caused by mutation in NDE1" EXACT []
synonym: "lissencephaly 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614019]
synonym: "lissencephaly 4 (with microcephaly)" EXACT [OMIM:614019, OMIM:genemap2]
synonym: "lissencephaly 4 with microcephaly" RELATED [OMIM:614019]
synonym: "lissencephaly 4, with microcephaly" RELATED [OMIM:614019]
synonym: "lissencephaly type 4" EXACT [MONDORULE:1, OMIM:614019]
synonym: "NDE1 lissencephaly (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0112235 {source="MONDO:equivalentTo"}
xref: MEDGEN:462811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614019 {source="MONDO:equivalentTo"}
xref: Orphanet:1083 {source="OMIM:614019"}
xref: UMLS:C3151461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462811"}
is_a: MONDO:0015204 {source="Orphanet:1083/btnt"} ! microlissencephaly
is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:614019"} ! lissencephaly spectrum disorders
is_a: MONDO:0700116 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly with lissencephaly and/or hydranencephaly
intersection_of: MONDO:0018838 ! lissencephaly spectrum disorders
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 ! NDE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 {source="MONDO:mim2gene_medgen"} ! NDE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013528
name: intellectual disability, autosomal recessive 14
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22549", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TECR" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 14" EXACT [MONDO:Lexical, OMIM:614020]
synonym: "intellectual disability, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:614020]
synonym: "mental retardation, autosomal recessive 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:614020]
synonym: "mental retardation, autosomal recessive type 14" EXACT DEPRECATED [MONDORULE:2, OMIM:614020]
synonym: "MRT14" RELATED DEPRECATED [MONDO:Lexical, OMIM:614020]
synonym: "TECR autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081188 {source="MONDO:equivalentTo"}
xref: GARD:22549 {source="MONDO:GARD"}
xref: MEDGEN:462812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614020 {source="MONDO:equivalentTo"}
xref: UMLS:C3151462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462812"}
is_a: MONDO:0019502 {source="DC-OMIM:614020", source="MONDO:Redundant", source="OMIM:614020"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4551 ! TECR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4551 {source="MONDO:mim2gene_medgen"} ! TECR

[Term]
id: MONDO:0013529
name: catecholaminergic polymorphic ventricular tachycardia 3
def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "catecholaminergic polymorphic ventricular tachycardia 3" EXACT CLINGEN_LABEL []
synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL" EXACT [MONDO:design_pattern]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 3" EXACT [DOID:0060677, MONDORULE:1]
synonym: "CPVT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614021]
synonym: "CVPT3" EXACT ABBREVIATION [DOID:0060677]
synonym: "TECRL catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 3" RELATED [MONDO:Lexical, OMIM:614021]
xref: DOID:0060677 {source="MONDO:equivalentTo"}
xref: GARD:15744 {source="MONDO:GARD"}
xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060677"}
xref: MEDGEN:462813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614021 {source="DOID:0060677", source="MONDO:equivalentTo"}
xref: Orphanet:3286 {source="OMIM:614021"}
xref: UMLS:C3151463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462813"}
is_a: MONDO:0017990 {source="DC-OMIM:614021", source="DOID:0060677", source="MONDO:Redundant", source="OMIM:614021"} ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: MONDO:0017990 ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27365 ! TECRL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27365 {source="MONDO:mim2gene_medgen"} ! TECRL

[Term]
id: MONDO:0013530
name: atrial fibrillation, familial, 10
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15745", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ATFB10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614022]
synonym: "atrial fibrillation, familial, 10" EXACT [MONDO:Lexical, OMIM:614022]
synonym: "atrial fibrillation, familial, type 10" EXACT [MONDORULE:2, OMIM:614022]
synonym: "familial atrial fibrillation caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "SCN5A familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15745 {source="MONDO:GARD"}
xref: MEDGEN:462814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614022 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:614022"}
xref: UMLS:C3151464 {source="MEDGEN:462814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:614022", source="MONDO:Redundant", source="OMIM:614022"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A

[Term]
id: MONDO:0013531
name: PSPH deficiency
def: "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome." [Orphanet:79350]
subset: gard_rare {source="GARD:16717", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79350"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-phosphoserine phosphatase deficiency" RELATED [Orphanet:79350]
synonym: "phosphoserine phosphatase deficiency" EXACT [DOID:0050724, MONDO:Lexical, OMIM:614023]
synonym: "PSPH deficiency" EXACT CLINGEN_LABEL []
synonym: "PSPHD" EXACT ABBREVIATION [DOID:0050724, MONDO:Lexical, OMIM:614023]
xref: DOID:0050724 {source="MONDO:equivalentTo"}
xref: GARD:16717 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:79350", source="Orphanet:79350/attributed", source="Orphanet:79350/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:452940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614023 {source="MONDO:equivalentTo", source="DOID:0050724", source="Orphanet:79350", source="Orphanet:79350/e"}
xref: Orphanet:79350 {source="MONDO:equivalentTo", source="OMIM:614023"}
xref: SCTID:124432005 {source="MONDO:equivalentTo"}
xref: UMLS:C1291463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452940"}
is_a: MONDO:0018162 {source="Orphanet:79350"} ! neurometabolic disorder due to serine deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:79350", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9577 {source="MONDO:mim2gene_medgen"} ! PSPH

[Term]
id: MONDO:0013532
name: protein Z deficiency
subset: otar {source="MONDO:OTAR"}
synonym: "protein Z deficiency" EXACT [OMIM:614024]
synonym: "protein z deficiency" EXACT [OMIM:614024, OMIM:genemap2]
xref: MEDGEN:462815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614024 {source="MONDO:equivalentTo"}
xref: UMLS:C3151465 {source="MEDGEN:462815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9460 {source="MONDO:mim2gene_medgen"} ! PROZ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013533
name: hyperlipidemia due to hepatic triglyceride lipase deficiency
def: "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated." [Orphanet:140905]
subset: gard_rare {source="GARD:12864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140905"}
subset: orphanet_rare {source="Orphanet:140905"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hepatic lipase deficiency" RELATED [OMIM:614025]
synonym: "HL deficiency" RELATED [OMIM:614025]
synonym: "hyperlipidemia due to hepatic lipase deficiency" EXACT [Orphanet:140905]
synonym: "hyperlipidemia due to hepatic triacylglycerol lipase deficiency" RELATED [Orphanet:140905]
synonym: "hyperlipidemia due to HL deficiency" EXACT [Orphanet:140905]
synonym: "hyperlipidemia due to HTGL deficiency" EXACT [Orphanet:140905]
synonym: "lipc deficiency" RELATED [OMIM:614025]
xref: GARD:12864 {source="MONDO:GARD"}
xref: ICD10CM:E78.4 {source="Orphanet:140905", source="Orphanet:140905/attributed", source="Orphanet:140905/ntbt"}
xref: MEDGEN:462816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614025 {source="Orphanet:140905", source="MONDO:equivalentTo", source="Orphanet:140905/e"}
xref: Orphanet:140905 {source="OMIM:614025", source="MONDO:equivalentTo"}
xref: SCTID:720940008 {source="MONDO:equivalentTo"}
xref: UMLS:C3151466 {source="MEDGEN:462816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015903 {source="Orphanet:140905"} ! hyperalphalipoproteinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6619 {source="MONDO:mim2gene_medgen"} ! LIPC

[Term]
id: MONDO:0013534
name: apolipoprotein c-III deficiency
subset: gard_rare {source="GARD:18076", source="MONDO:GARD"}
subset: rare
synonym: "apolipoprotein c-III deficiency" EXACT [OMIM:614028]
synonym: "hyperalphalipoproteinemia 2" RELATED [OMIM:614028]
xref: DOID:0111370 {source="MONDO:equivalentTo"}
xref: GARD:18076 {source="MONDO:GARD"}
xref: MEDGEN:462817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566270 {source="MONDO:equivalentTo"}
xref: OMIM:614028 {source="MONDO:equivalentTo"}
xref: Orphanet:79506 {source="OMIM:614028"}
xref: UMLS:C3151467 {source="MEDGEN:462817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="https://orcid.org/0000-0002-6601-2165"} ! inborn errors of metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/610 {source="MONDO:mim2gene_medgen"} ! APOC3

[Term]
id: MONDO:0013535
name: hydroxyacyl glutathione hydrolase deficiency
synonym: "glyoxalase 2 deficiency" RELATED [OMIM:614033]
synonym: "glyoxalase II deficiency" EXACT [OMIM:614033, OMIM:genemap2]
synonym: "hydroxyacyl glutathione hydrolase deficiency" EXACT [OMIM:614033]
xref: MEDGEN:481287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564215 {source="MONDO:equivalentTo"}
xref: OMIM:614033 {source="MONDO:equivalentTo"}
xref: UMLS:C3279657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481287"}
is_a: MONDO:0003847 {source="MESH:C564215/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4805 {source="MONDO:mim2gene_medgen"} ! HAGH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013536
name: heme oxygenase 1 deficiency
subset: gard_rare {source="GARD:17995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:562509"}
subset: orphanet_rare {source="Orphanet:562509"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "heme oxygenase 1 deficiency" EXACT [MONDO:Lexical, OMIM:614034]
synonym: "heme oxygenase-1 deficiency" EXACT [OMIM:614034, OMIM:genemap2]
synonym: "HMOX1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614034]
xref: GARD:17995 {source="MONDO:GARD"}
xref: MEDGEN:333882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564200 {source="MONDO:equivalentTo"}
xref: OMIM:614034 {source="MONDO:equivalentTo"}
xref: Orphanet:562509 {source="MONDO:equivalentTo"}
xref: UMLS:C1841651 {source="MEDGEN:333882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0017754 {source="Orphanet:562509"} ! inborn disorder of porphyrin metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5013 {source="MONDO:mim2gene_medgen"} ! HMOX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013537
name: autosomal recessive nonsyndromic hearing loss 29
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 29" NARROW [DOID:0110487]
synonym: "autosomal recessive nonsyndromic deafness 29" NARROW [OMIM:614035]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLDN14" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 29" NARROW [DOID:0110487, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 29" EXACT CLINGEN_LABEL []
synonym: "CLDN14 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 29" NARROW [MONDO:Lexical, OMIM:614035, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 29" NARROW [MONDORULE:2, OMIM:614035]
synonym: "DFNB29" NARROW ABBREVIATION [DOID:0110487, MONDO:Lexical, OMIM:614035]
xref: DOID:0110487 {source="MONDO:equivalentTo"}
xref: GARD:22641 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110487"}
xref: MEDGEN:481290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614035 {source="MONDO:equivalentTo", source="DOID:0110487"}
xref: Orphanet:90636 {source="OMIM:614035"}
xref: UMLS:C3279660 {source="MEDGEN:481290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:614035", source="DOID:0110487", source="MONDO:Redundant", source="OMIM:614035"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2035 ! CLDN14
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2035 {source="MONDO:mim2gene_medgen"} ! CLDN14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013538
name: obsolete alpha-2-macroglobulin deficiency
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "A2MD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614036]
synonym: "ALPHA-2-macroglobulin deficiency" RELATED [OMIM:614036]
synonym: "alpha-2-macroglobulin deficiency" EXACT [MONDO:Lexical, OMIM:614036]
xref: MESH:C566304 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:614036 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0013539
name: hypotonia-failure to thrive-microcephaly syndrome
def: "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." [Orphanet:79507]
subset: gard_rare {source="GARD:16725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79507"}
subset: orphanet_rare {source="Orphanet:79507"}
subset: rare
synonym: "leukotriene C4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507]
synonym: "LTC4 synthase deficiency" EXACT [OMIM:614037, Orphanet:79507]
xref: GARD:16725 {source="MONDO:GARD"}
xref: MEDGEN:481292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565439 {source="MONDO:equivalentTo"}
xref: OMIM:614037 {source="MONDO:equivalentTo", source="Orphanet:79507", source="Orphanet:79507/e"}
xref: Orphanet:79507 {source="OMIM:614037", source="MONDO:equivalentTo"}
xref: SCTID:717185008 {source="MONDO:equivalentTo"}
xref: UMLS:C3279662 {source="MEDGEN:481292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6719 {source="MONDO:mim2gene_medgen"} ! LTC4S

[Term]
id: MONDO:0013540
name: deafness-lymphedema-leukemia syndrome
def: "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." [Orphanet:3226]
subset: gard_rare {source="GARD:13030", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:3226"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness-lymphedema-leukemia syndrome" EXACT CLINGEN_LABEL []
synonym: "Emberger syndrome" EXACT [OMIM:614038, Orphanet:3226]
synonym: "lymphedema, primary, with myelodysplasia" RELATED [OMIM:614038]
xref: GARD:13030 {source="MONDO:GARD"}
xref: ICD9:757.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:481294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614038 {source="Orphanet:3226", source="MONDO:equivalentTo", source="Orphanet:3226/e"}
xref: Orphanet:3226 {source="OMIM:614038", source="MONDO:equivalentTo"}
xref: SCTID:700057001 {source="MONDO:equivalentTo"}
xref: UMLS:C3279664 {source="MEDGEN:481294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4171 {source="MONDO:mim2gene_medgen"} ! GATA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome" xsd:anyURI {source="GARD:0013030"}

[Term]
id: MONDO:0013541
name: complex cortical dysplasia with other brain malformations 1
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13032", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300570"}
subset: orphanet_rare {source="Orphanet:300570"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDCBM1" EXACT ABBREVIATION [DOID:0090137, MONDO:Lexical, OMIM:614039]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 1" EXACT [DOID:0090137, MONDORULE:1]
synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [DOID:0090137]
synonym: "cortical dysplasia, complex, with other brain malformations 1" RELATED [MONDO:Lexical, OMIM:614039]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 1" EXACT [MONDORULE:1, OMIM:614039]
synonym: "TUBB3 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090137 {source="MONDO:equivalentTo"}
xref: GARD:13032 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="DOID:0090137", source="Orphanet:300570/attributed", source="Orphanet:300570/ntbt", source="Orphanet:300570"}
xref: MEDGEN:814727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614039 {source="Orphanet:300570/e", source="MONDO:equivalentTo", source="DOID:0090137", source="Orphanet:300570"}
xref: Orphanet:300570 {source="OMIM:614039", source="MONDO:equivalentTo", source="DOID:0090137"}
xref: UMLS:C3808397 {source="MONDO:equivalentTo", source="MEDGEN:814727", source="MONDO:MEDGEN"}
is_a: MONDO:0000904 {source="DOID:0090137", source="MONDO:Redundant", source="OMIM:614039"} ! complex cortical dysplasia with other brain malformations
intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 ! TUBB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 {source="MONDO:mim2gene_medgen"} ! TUBB3

[Term]
id: MONDO:0013542
name: Moyamoya disease 5
def: "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15746", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTA2 Moyamoya disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Moyamoya disease 5" EXACT [MONDO:Lexical, OMIM:614042]
synonym: "Moyamoya disease caused by mutation in ACTA2" EXACT [MONDO:design_pattern]
synonym: "Moyamoya disease type 5" EXACT [MONDORULE:1, OMIM:614042]
synonym: "MYMY5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614042]
xref: GARD:15746 {source="MONDO:GARD"}
xref: MEDGEN:481320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614042 {source="MONDO:equivalentTo"}
xref: Orphanet:2573 {source="OMIM:614042"}
xref: UMLS:C3279690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481320"}
is_a: MONDO:0016820 {source="DC-OMIM:614042", source="MONDO:Redundant", source="OMIM:614042"} ! Moyamoya disease
intersection_of: MONDO:0016820 ! Moyamoya disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 ! ACTA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/130 {source="MONDO:mim2gene_medgen"} ! ACTA2

[Term]
id: MONDO:0013543
name: trypsinogen deficiency
subset: otar {source="MONDO:OTAR"}
synonym: "trypsinogen deficiency" EXACT [OMIM:614044]
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:450540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614044 {source="MONDO:equivalentTo"}
xref: SCTID:190953007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268417 {source="MEDGEN:450540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9475 {source="MONDO:mim2gene_medgen"} ! PRSS1

[Term]
id: MONDO:0013544
name: atrial fibrillation, familial, 11
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15747", source="MONDO:GARD"}
subset: rare
synonym: "ATFB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614049]
synonym: "atrial fibrillation, familial, 11" EXACT [MONDO:Lexical, OMIM:614049]
synonym: "atrial fibrillation, familial, type 11" EXACT [MONDORULE:2, OMIM:614049]
synonym: "familial atrial fibrillation caused by mutation in GJA5" EXACT [MONDO:design_pattern]
synonym: "GJA5 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15747 {source="MONDO:GARD"}
xref: MEDGEN:481323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614049 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:614049"}
xref: UMLS:C3279693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481323"}
is_a: MONDO:0018054 {source="DC-OMIM:614049", source="MONDO:Redundant", source="OMIM:614049"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4279 ! GJA5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4279 {source="MONDO:mim2gene_medgen"} ! GJA5

[Term]
id: MONDO:0013545
name: atrial fibrillation, familial, 12
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15748", source="MONDO:GARD"}
subset: rare
synonym: "ABCC9 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ATFB12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614050]
synonym: "atrial fibrillation, familial, 12" EXACT [MONDO:Lexical, OMIM:614050]
synonym: "atrial fibrillation, familial, type 12" EXACT [MONDORULE:2, OMIM:614050]
synonym: "familial atrial fibrillation caused by mutation in ABCC9" EXACT [MONDO:design_pattern]
xref: GARD:15748 {source="MONDO:GARD"}
xref: MEDGEN:481325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614050 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:614050"}
xref: UMLS:C3279695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481325"}
is_a: MONDO:0018054 {source="DC-OMIM:614050", source="MONDO:Redundant", source="OMIM:614050"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/60 ! ABCC9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/60 {source="MONDO:mim2gene_medgen"} ! ABCC9

[Term]
id: MONDO:0013546
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2
def: "A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." [Orphanet:1194]
subset: gard_rare {source="GARD:16561", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1194"}
subset: orphanet_rare {source="Orphanet:1194"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-MGCA type IV (3-MGCA-4) (formerly)" RELATED [GARD:0012965]
synonym: "encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency" RELATED [OMIM:614052]
synonym: "MC5DN2" EXACT ABBREVIATION [DOID:0060331, MONDO:Lexical, OMIM:614052]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2" RELATED [OMIM:614052]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type" RELATED [OMIM:614052]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:614052]
synonym: "mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" EXACT [Orphanet:1194]
synonym: "mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency" EXACT [Orphanet:1194]
synonym: "mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency" EXACT [Orphanet:1194]
synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT [DOID:0060331]
synonym: "TMEM70 defect" RELATED [GARD:0012965]
synonym: "TMEM70-related mitochondrial encephalo-cardio-myopathy" RELATED [Orphanet:1194]
xref: DOID:0060331 {source="MONDO:equivalentTo"}
xref: GARD:16561 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="DOID:0060331", source="Orphanet:1194/attributed", source="Orphanet:1194/ntbt", source="Orphanet:1194"}
xref: MEDGEN:481329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567528 {source="MONDO:equivalentTo"}
xref: OMIM:614052 {source="Orphanet:1194/e", source="DOID:0060331", source="MONDO:equivalentTo", source="Orphanet:1194"}
xref: Orphanet:1194 {source="DOID:0060331", source="MONDO:equivalentTo", source="OMIM:614052"}
xref: SCTID:718212006 {source="MONDO:equivalentTo"}
xref: UMLS:C3279699 {source="MEDGEN:481329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 {source="DC-OMIM:614052"} ! mitochondrial complex deficiency
is_a: MONDO:0044970 ! mitochondrial disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26050 {source="MONDO:mim2gene_medgen"} ! TMEM70

[Term]
id: MONDO:0013547
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3
def: "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18666", source="MONDO:GARD"}
subset: rare
synonym: "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MC5DN3" EXACT ABBREVIATION [DOID:0060332, MONDO:Lexical, OMIM:614053]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type" RELATED [OMIM:614053]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3" RELATED [OMIM:614053]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:614053]
synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E" EXACT [MONDO:design_pattern]
xref: DOID:0060332 {source="MONDO:equivalentTo"}
xref: GARD:18666 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="DOID:0060332"}
xref: MEDGEN:481338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614053 {source="DOID:0060332", source="MONDO:equivalentTo"}
xref: Orphanet:254913 {source="DOID:0060332", source="OMIM:614053"}
xref: UMLS:C3279708 {source="MEDGEN:481338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 {source="DC-OMIM:614053"} ! mitochondrial complex deficiency
is_a: MONDO:0014471 {source="DOID:0060332", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency
intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/838 ! ATP5F1E
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/838 {source="MONDO:mim2gene_medgen"} ! ATP5F1E

[Term]
id: MONDO:0013548
name: acetyl-CoA acetyltransferase-2 deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "ACAT2" RELATED ABBREVIATION [GARD:0009154]
synonym: "Acat2 deficiency" RELATED [OMIM:614055]
synonym: "ACAT2 deficiency, Isolated cases" EXACT [OMIM:614055, OMIM:genemap2]
synonym: "ACAT2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614055]
synonym: "acetoacetyl CoA thiolase, cytosolic" RELATED [GARD:0009154]
synonym: "Acetocoenzyme A acetyltransferase 2" RELATED [GARD:0009154]
synonym: "Acetyl CoA acetyltransferase 2 deficiency" RELATED [GARD:0009154]
synonym: "ACETYL-CoA acetyltransferase-2 deficiency" RELATED [OMIM:614055]
synonym: "acetyl-CoA acetyltransferase-2 deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614055]
xref: MEDGEN:90995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536005 {source="MONDO:equivalentTo"}
xref: OMIM:614055 {source="MONDO:equivalentTo"}
xref: UMLS:C0342735 {source="MEDGEN:90995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536005/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/94 {source="MONDO:mim2gene_medgen"} ! ACAT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency" xsd:anyURI {source="GARD:0009154"}

[Term]
id: MONDO:0013549
name: N-acetylaspartate deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "hypoacetylaspartia" RELATED [OMIM:614063]
synonym: "N-acetylaspartate deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614063]
synonym: "naa deficiency" RELATED [OMIM:614063]
synonym: "NACED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614063]
xref: MEDGEN:481346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614063 {source="MONDO:equivalentTo"}
xref: UMLS:C3279716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481346"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26742 {source="MONDO:mim2gene_medgen"} ! NAT8L

[Term]
id: MONDO:0013550
name: distal myopathy with posterior leg and anterior hand involvement
def: "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." [Orphanet:63273]
subset: gard_rare {source="GARD:16666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63273"}
subset: orphanet_rare {source="Orphanet:63273"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal ABD-filaminopathy" EXACT [Orphanet:63273]
synonym: "MPD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614065]
synonym: "myopathy, distal, 4" RELATED [MONDO:Lexical, OMIM:614065]
synonym: "myopathy, distal, type 4" EXACT [MONDORULE:1, OMIM:614065]
synonym: "Williams distal myopathy" RELATED [OMIM:614065]
xref: DOID:0111190 {source="MONDO:equivalentTo"}
xref: GARD:16666 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:63273/attributed", source="Orphanet:63273/ntbt", source="Orphanet:63273"}
xref: MEDGEN:481352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614065 {source="Orphanet:63273/e", source="MONDO:equivalentTo", source="Orphanet:63273"}
xref: Orphanet:63273 {source="MONDO:equivalentTo", source="OMIM:614065"}
xref: SCTID:733489002 {source="MONDO:equivalentTo"}
xref: UMLS:C3279722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481352"}
is_a: MONDO:0016108 {source="Orphanet:63273"} ! autosomal dominant distal myopathy
is_a: MONDO:0018949 {source="DC-OMIM:614065", source="MONDO:Redundant", source="Orphanet:63273/inferred"} ! distal myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 {source="MONDO:mim2gene_medgen"} ! FLNC

[Term]
id: MONDO:0013551
name: hereditary spastic paraplegia 47
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1993"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AP4B1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spastic paraplegia 47" EXACT [DOID:0110799]
synonym: "cerebral palsy, spastic quadriplegic, 5" RELATED [OMIM:614066]
synonym: "cerebral palsy, spastic quadriplegic, 5, formerly" RELATED [OMIM:614066]
synonym: "CPSQ5" EXACT ABBREVIATION [DOID:0110799]
synonym: "hereditary spastic paraplegia 47" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia caused by mutation in AP4B1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 47" EXACT [DOID:0110799, MONDORULE:2]
synonym: "Spastic Paraplegia 47" EXACT [NORD:1993]
synonym: "spastic paraplegia 47, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614066]
synonym: "spastic quadriplegic cerebral palsy 5" EXACT [DOID:0110799]
synonym: "SPG47" EXACT ABBREVIATION [DOID:0110799, MONDO:Lexical, OMIM:614066]
xref: DOID:0110799 {source="MONDO:equivalentTo"}
xref: GARD:15749 {source="MONDO:GARD"}
xref: MEDGEN:481368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C164224 {source="MONDO:equivalentTo"}
xref: NORD:1993 {source="MONDO:NORD"}
xref: OMIM:614066 {source="DOID:0110799", source="MONDO:equivalentTo"}
xref: Orphanet:280763 {source="DOID:0110799", source="OMIM:614066"}
xref: UMLS:C3279738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481368"}
is_a: MONDO:0019064 {source="DOID:0110799", source="MONDO:Redundant", source="OMIM:614066"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/572 ! AP4B1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/572 {source="MONDO:mim2gene_medgen"} ! AP4B1

[Term]
id: MONDO:0013552
name: hereditary spastic paraplegia 52
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1991"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AP4S1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive spastic paraplegia 52" EXACT [DOID:0110804]
synonym: "cerebral palsy, spastic quadriplegic, 6" RELATED [OMIM:614067]
synonym: "cerebral palsy, spastic quadriplegic, 6, formerly" RELATED [OMIM:614067]
synonym: "CPSQ6" EXACT ABBREVIATION [DOID:0110804]
synonym: "hereditary spastic paraplegia 52" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia caused by mutation in AP4S1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 52" EXACT [DOID:0110804, MONDORULE:2]
synonym: "Spastic Paraplegia 52" EXACT [NORD:1991]
synonym: "spastic paraplegia 52, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614067]
synonym: "spastic quadriplegic cerebral palsy 6" EXACT [DOID:0110804]
synonym: "SPG52" EXACT ABBREVIATION [DOID:0110804, MONDO:Lexical, OMIM:614067]
xref: DOID:0110804 {source="MONDO:equivalentTo"}
xref: GARD:15750 {source="MONDO:GARD"}
xref: MEDGEN:481373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1991 {source="MONDO:NORD"}
xref: OMIM:614067 {source="DOID:0110804", source="MONDO:equivalentTo"}
xref: Orphanet:280763 {source="DOID:0110804", source="OMIM:614067"}
xref: UMLS:C3279743 {source="MEDGEN:481373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110804", source="MONDO:Redundant", source="OMIM:614067"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/575 ! AP4S1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/575 {source="MONDO:mim2gene_medgen"} ! AP4S1

[Term]
id: MONDO:0013553
name: immunodeficiency-centromeric instability-facial anomalies syndrome 2
def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15751", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ICF syndrome 2" EXACT [DOID:0090009]
synonym: "ICF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614069]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614069]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24" EXACT [MONDO:design_pattern]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 2" EXACT [MONDORULE:1, OMIM:614069]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 2" EXACT [DOID:0090009, MONDORULE:1]
synonym: "ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090009 {source="MONDO:equivalentTo"}
xref: GARD:15751 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="DOID:0090009"}
xref: MEDGEN:481378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614069 {source="MONDO:equivalentTo", source="DOID:0090009"}
xref: Orphanet:2268 {source="OMIM:614069"}
xref: UMLS:C3279748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481378"}
is_a: MONDO:0000133 {source="DC-OMIM:614069", source="DOID:0090009", source="MONDO:Redundant", source="OMIM:614069"} ! immunodeficiency-centromeric instability-facial anomalies syndrome
intersection_of: MONDO:0000133 ! immunodeficiency-centromeric instability-facial anomalies syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21143 ! ZBTB24
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614069"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21143 {source="MONDO:mim2gene_medgen"} ! ZBTB24

[Term]
id: MONDO:0013554
name: psoriasis 13, susceptibility to
def: "Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "psoriasis 13, susceptibility to" EXACT [MONDO:Lexical, OMIM:614070]
synonym: "psoriasis caused by mutation in TRAF3IP2" EXACT [MONDO:design_pattern]
synonym: "psoriasis susceptibility 13" EXACT [OMIM:614070, OMIM:genemap2]
synonym: "PSORS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614070]
synonym: "susceptibility to psoriasis 13" RELATED [OMIM:614070]
synonym: "TRAF3IP2 psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111287 {source="MONDO:equivalentTo"}
xref: MEDGEN:481384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614070 {source="MONDO:equivalentTo"}
xref: UMLS:C3279754 {source="MEDGEN:481384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:614070"} ! psoriasis, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1343 ! TRAF3IP2
intersection_of: predisposes_towards MONDO:0005083 ! psoriasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1343 {source="MONDO:mim2gene_medgen"} ! TRAF3IP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013555
name: Hermansky-Pudlak syndrome 3
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hermansky-Pudlak syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614072]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS3" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 3" EXACT [DOID:0060541, MONDORULE:1, OMIM:614072]
synonym: "HPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614072]
synonym: "HPS3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060541 {source="MONDO:equivalentTo"}
xref: GARD:18333 {source="MONDO:GARD"}
xref: MEDGEN:854708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614072 {source="DOID:0060541", source="MONDO:equivalentTo"}
xref: Orphanet:231512 {source="OMIM:614072"}
xref: Orphanet:79430 {source="OMIM:614072"}
xref: UMLS:C3888001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854708"}
is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis
is_a: MONDO:0019312 {source="DOID:0060541", source="MONDO:Redundant", source="OMIM:614072"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15597 ! HPS3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15597 {source="MONDO:mim2gene_medgen"} ! HPS3

[Term]
id: MONDO:0013556
name: Hermansky-Pudlak syndrome 4
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18332", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Hermansky-Pudlak syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614073]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS4" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 4" EXACT [DOID:0060542, MONDORULE:1, OMIM:614073]
synonym: "HPS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614073]
synonym: "HPS4 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060542 {source="MONDO:equivalentTo"}
xref: GARD:18332 {source="MONDO:GARD"}
xref: MEDGEN:483344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614073 {source="DOID:0060542", source="MONDO:equivalentTo"}
xref: Orphanet:231500 {source="OMIM:614073"}
xref: Orphanet:79430 {source="OMIM:614073"}
xref: UMLS:C3484357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483344"}
is_a: MONDO:0016501 {source="Orphanet:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis
is_a: MONDO:0019312 {source="DOID:0060542", source="MONDO:Redundant", source="OMIM:614073"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15844 ! HPS4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15844 {source="MONDO:mim2gene_medgen"} ! HPS4

[Term]
id: MONDO:0013557
name: Hermansky-Pudlak syndrome 5
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18334", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Hermansky-Pudlak syndrome 5" EXACT [MONDO:Lexical, OMIM:614074]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS5" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 5" EXACT [DOID:0060543, MONDORULE:1, OMIM:614074]
synonym: "HPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614074]
synonym: "HPS5 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060543 {source="MONDO:equivalentTo"}
xref: GARD:18334 {source="MONDO:GARD"}
xref: MEDGEN:854711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614074 {source="DOID:0060543", source="MONDO:equivalentTo"}
xref: Orphanet:231512 {source="OMIM:614074"}
xref: Orphanet:79430 {source="OMIM:614074"}
xref: UMLS:C3888004 {source="MEDGEN:854711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis
is_a: MONDO:0019312 {source="DOID:0060543", source="MONDO:Redundant", source="OMIM:614074"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17022 ! HPS5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17022 {source="MONDO:mim2gene_medgen"} ! HPS5

[Term]
id: MONDO:0013558
name: Hermansky-Pudlak syndrome 6
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Hermansky-Pudlak syndrome 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614075]
synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS6" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 6" EXACT [DOID:0060544, MONDORULE:1, OMIM:614075]
synonym: "HPS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614075]
synonym: "HPS6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060544 {source="MONDO:equivalentTo"}
xref: GARD:18335 {source="MONDO:GARD"}
xref: MEDGEN:854714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C150369 {source="MONDO:equivalentTo"}
xref: OMIM:614075 {source="MONDO:equivalentTo", source="DOID:0060544"}
xref: Orphanet:231512 {source="OMIM:614075"}
xref: Orphanet:79430 {source="OMIM:614075"}
xref: UMLS:C3888007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854714"}
is_a: MONDO:0016502 {source="Orphanet:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis
is_a: MONDO:0019312 {source="DOID:0060544", source="MONDO:Redundant", source="NCIT:C150369", source="OMIM:614075"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18817 ! HPS6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18817 {source="MONDO:mim2gene_medgen"} ! HPS6

[Term]
id: MONDO:0013559
name: Hermansky-Pudlak syndrome 7
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231531"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DTNBP1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614076]
synonym: "Hermansky-Pudlak syndrome caused by mutation in DTNBP1" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 7" EXACT [DOID:0060545, MONDORULE:1, OMIM:614076]
synonym: "HPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614076, Orphanet:231531]
xref: DOID:0060545 {source="MONDO:equivalentTo"}
xref: GARD:18336 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:231531/attributed", source="Orphanet:231531/ntbt", source="MONDO:relatedTo", source="Orphanet:231531"}
xref: MEDGEN:481386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614076 {source="Orphanet:231531", source="DOID:0060545", source="MONDO:equivalentTo", source="Orphanet:231531/e"}
xref: Orphanet:231531 {source="MONDO:equivalentTo", source="OMIM:614076"}
xref: Orphanet:79430 {source="OMIM:614076"}
xref: UMLS:C3279756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481386"}
is_a: MONDO:0019312 {source="DC-OMIM:614076", source="DOID:0060545", source="MONDO:Redundant", source="OMIM:614076", source="Orphanet:231531"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17328 ! DTNBP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17328 {source="MONDO:mim2gene_medgen"} ! DTNBP1

[Term]
id: MONDO:0013560
name: Hermansky-Pudlak syndrome 8
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BLOC1S3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614077]
synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 8" EXACT [DOID:0060546, MONDORULE:1, OMIM:614077]
synonym: "HPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614077, Orphanet:231537]
xref: DOID:0060546 {source="MONDO:equivalentTo"}
xref: GARD:18337 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231537", source="Orphanet:231537/attributed", source="Orphanet:231537/ntbt"}
xref: MEDGEN:854728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614077 {source="Orphanet:231537/e", source="MONDO:equivalentTo", source="DOID:0060546", source="Orphanet:231537"}
xref: Orphanet:231537 {source="MONDO:equivalentObsolete", source="OMIM:614077"}
xref: Orphanet:79430 {source="OMIM:614077"}
xref: UMLS:C3888026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854728"}
is_a: MONDO:0019312 {source="DC-OMIM:614077", source="DOID:0060546", source="MONDO:Redundant", source="OMIM:614077", source="Orphanet:231537"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20914 ! BLOC1S3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20914 {source="MONDO:mim2gene_medgen"} ! BLOC1S3

[Term]
id: MONDO:0013561
name: chondrodysplasia with joint dislocations, gPAPP type
subset: gard_rare {source="GARD:11009", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280586"}
subset: ordo_malformation_syndrome {source="Orphanet:280586"}
subset: orphanet_rare {source="Orphanet:280586"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia with joint dislocations, gPAPP type" EXACT CLINGEN_LABEL [OMIM:614078]
synonym: "gPAPP deficiency" EXACT [OMIM:614078, Orphanet:280586]
xref: DOID:0112224 {source="MONDO:equivalentTo"}
xref: GARD:11009 {source="MONDO:GARD"}
xref: MEDGEN:481387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614078 {source="Orphanet:280586/e", source="MONDO:equivalentTo", source="Orphanet:280586"}
xref: Orphanet:280586 {source="MONDO:equivalentTo", source="OMIM:614078"}
xref: UMLS:C3279757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481387"}
is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease
is_a: MONDO:0002081 {source="GARD:0011009"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:280586", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26019 {source="MONDO:mim2gene_medgen"} ! BPNT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6759" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013562
name: aspergillosis, susceptibility to
subset: predisposition
synonym: "aspergillosis, susceptibility to" EXACT [OMIM:614079]
synonym: "susceptibility to aspergillosis" RELATED [OMIM:614079]
xref: MEDGEN:481404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614079 {source="MONDO:equivalentTo"}
xref: Orphanet:1163 {source="OMIM:614079"}
xref: UMLS:C3279774 {source="MEDGEN:481404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005657 ! aspergillosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14558 {source="MONDO:mim2gene_medgen"} ! CLEC7A

[Term]
id: MONDO:0013563
name: multiple congenital anomalies-hypotonia-seizures syndrome 1
def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." [MONDO:design_pattern]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280633"}
subset: ordo_malformation_syndrome {source="Orphanet:280633"}
subset: orphanet_rare {source="Orphanet:280633"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital disorder of glycosylation due to PIGN deficiency" EXACT [Orphanet:280633]
synonym: "glycosylphosphatidylinositol biosynthesis defect 3" RELATED [OMIM:614080]
synonym: "inherited GPI anchor-deficiency" EXACT [PMID:31127708]
synonym: "MCAHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614080]
synonym: "multiple congenital anomalies - hypotonia - seizures syndrome" RELATED [GARD:0012781]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome" RELATED [Orphanet:280633]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614080]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 1" EXACT [DOID:0080138, MONDORULE:1, OMIM:614080]
synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN" EXACT [MONDO:design_pattern]
synonym: "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PIGN-CDG" EXACT [Orphanet:280633]
synonym: "PIGN-related inherited GPI deficiency" NARROW [https://clinicalgenome.org/affiliation/40006/]
xref: DOID:0080138 {source="MONDO:equivalentTo"}
xref: GARD:12781 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:280633/attributed", source="Orphanet:280633/ntbt", source="Orphanet:280633"}
xref: MEDGEN:481405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176896 {source="MONDO:equivalentTo"}
xref: OMIM:614080 {source="Orphanet:280633/e", source="MONDO:equivalentTo", source="DOID:0080138", source="Orphanet:280633"}
xref: Orphanet:280633 {source="MONDO:equivalentTo", source="OMIM:614080"}
xref: UMLS:C3279775 {source="MEDGEN:481405", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017748 {source="Orphanet:280633"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:280633"} ! multiple congenital anomalies-hypotonia-seizures syndrome
intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8967 ! PIGN
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8967 {source="MONDO:mim2gene_medgen"} ! PIGN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4804" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5965" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5996" xsd:anyURI

[Term]
id: MONDO:0013564
name: anhaptoglobinemia
subset: otar {source="MONDO:OTAR"}
synonym: "Ahaptoglobinemia" RELATED [OMIM:614081]
synonym: "AHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614081]
synonym: "ANHAPTOGLOBINEMIA" RELATED ABBREVIATION [OMIM:614081]
synonym: "anhaptoglobinemia" EXACT [MONDO:Lexical, OMIM:614081, OMIM:genemap2]
synonym: "hypohaptoglobinemia" EXACT [OMIM:614081, OMIM:genemap2]
xref: MEDGEN:481416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614081 {source="MONDO:equivalentTo"}
xref: UMLS:C3279786 {source="MEDGEN:481416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5141 {source="MONDO:mim2gene_medgen"} ! HP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013565
name: Fanconi anemia complementation group G
def: "Fanconi anemia caused by mutations of the FANCG gene." [NCIT:C125708]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15753", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FANCG" EXACT ABBREVIATION [DOID:0111086, MONDO:Lexical, OMIM:614082]
synonym: "Fanconi anaemia complementation group type G" EXACT OMO:0003005 []
synonym: "Fanconi anemia complementation group G" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type G" EXACT [DOID:0111086, MONDORULE:1]
synonym: "Fanconi anemia, complementation group G" RELATED [MONDO:Lexical, OMIM:614082]
synonym: "Fanconi Anemia, complementation group type G" EXACT [MONDORULE:1, OMIM:614082]
xref: DOID:0111086 {source="MONDO:equivalentTo"}
xref: GARD:15753 {source="MONDO:GARD"}
xref: MEDGEN:854017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125708 {source="MONDO:equivalentTo"}
xref: OMIM:614082 {source="MONDO:equivalentTo", source="DOID:0111086"}
xref: UMLS:C3469527 {source="MEDGEN:854017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:614082", source="DOID:0111086", source="EFO:0009046", source="NCIT:C125708", source="OMIM:614082"} ! Fanconi anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3588 {source="MONDO:mim2gene_medgen"} ! FANCG

[Term]
id: MONDO:0013566
name: Fanconi anemia complementation group L
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FANCL" EXACT ABBREVIATION [DOID:0111082, MONDO:Lexical, OMIM:614083]
synonym: "FANCL Fanconi anaemia" EXACT OMO:0003005 []
synonym: "FANCL Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anaemia caused by mutation in FANCL" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type L" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in FANCL" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group L" EXACT CLINGEN_LABEL []
synonym: "Fanconi anemia complementation group type L" EXACT [DOID:0111082, MONDORULE:1]
synonym: "Fanconi Anemia, complementation Group 50" RELATED [OMIM:614083]
synonym: "Fanconi anemia, complementation group L" RELATED [MONDO:Lexical, OMIM:614083]
synonym: "Fanconi Anemia, complementation group type 50" EXACT [MONDORULE:2, OMIM:614083]
xref: DOID:0111082 {source="MONDO:equivalentTo"}
xref: GARD:15754 {source="MONDO:GARD"}
xref: MEDGEN:854018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614083 {source="DOID:0111082", source="MONDO:equivalentTo"}
xref: UMLS:C3469528 {source="MEDGEN:854018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:614083", source="DOID:0111082", source="MONDO:Redundant", source="OMIM:614083"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20748 ! FANCL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20748 {source="MONDO:mim2gene_medgen"} ! FANCL

[Term]
id: MONDO:0013567
name: atrial septal defect 3
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15755", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ASD3" EXACT ABBREVIATION [DOID:0110108, MONDO:Lexical, OMIM:614089]
synonym: "atrial heart septal defect caused by mutation in MYH6" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 3" EXACT [DOID:0110108, MONDORULE:1]
synonym: "atrial septal defect 3" EXACT [DOID:0110108, MONDO:Lexical, OMIM:614089]
synonym: "atrial septal defect type 3" EXACT [MONDORULE:1, OMIM:614089]
synonym: "MYH6 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110108 {source="MONDO:equivalentTo"}
xref: GARD:15755 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="DOID:0110108"}
xref: MEDGEN:481420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563540 {source="MONDO:equivalentTo"}
xref: OMIM:614089 {source="DOID:0110108", source="MONDO:equivalentTo"}
xref: Orphanet:1478 {source="OMIM:614089"}
xref: UMLS:C3279790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481420"}
is_a: MONDO:0006664 {source="DC-OMIM:614089", source="DOID:0110108", source="MESH:C563540", source="MONDO:Redundant", source="OMIM:614089"} ! atrial septal defect
intersection_of: MONDO:0006664 ! atrial septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 ! MYH6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6

[Term]
id: MONDO:0013568
name: sick sinus syndrome 3, susceptibility to
def: "Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "familial sick sinus syndrome caused by mutation in MYH6" EXACT [MONDO:design_pattern]
synonym: "MYH6 familial sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sick sinus syndrome 3" EXACT [OMIM:614090, OMIM:genemap2]
synonym: "sick sinus syndrome 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:614090]
synonym: "SSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614090]
synonym: "susceptibility to sick sinus syndrome 3" RELATED [OMIM:614090]
xref: MEDGEN:481421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614090 {source="MONDO:equivalentTo"}
xref: Orphanet:166282 {source="OMIM:614090"}
xref: UMLS:C3279791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481421"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 ! MYH6
intersection_of: predisposes_towards MONDO:0001823 ! sick sinus syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013569
name: short-rib thoracic dysplasia 7 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1." [DOID:0110090, PMID:17935248, PMID:21473986]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498497"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:498497"}
subset: rare
synonym: "short rib-polydactyly syndrome type 5" EXACT [Orphanet:498497]
synonym: "short rib-polydactyly syndrome type V" EXACT [DOID:0110090]
synonym: "short rib-polydactyly syndrome, type 5" EXACT [OMIM:614091]
synonym: "short-rib thoracic dysplasia 7 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:614091]
synonym: "SRPS5" EXACT ABBREVIATION [DOID:0110090]
synonym: "SRTD7" EXACT ABBREVIATION [DOID:0110090, MONDO:Lexical, OMIM:614091]
xref: DOID:0110090 {source="MONDO:equivalentTo"}
xref: GARD:15756 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110090"}
xref: MEDGEN:481422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614091 {source="Orphanet:498497", source="DOID:0110090", source="MONDO:equivalentTo"}
xref: Orphanet:498497 {source="MONDO:equivalentTo"}
xref: Orphanet:93271 {source="OMIM:614091"}
xref: UMLS:C3279792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481422"}
is_a: MONDO:0015461 {source="Orphanet:498497"} ! short rib-polydactyly syndrome
is_a: MONDO:0018770 {source="DOID:0110090", source="OMIM:614091"} ! Jeune syndrome
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
relationship: excluded_subClassOf MONDO:0013127 {source="Orphanet:93271/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! asphyxiating thoracic dystrophy 3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29250 {source="MONDO:mim2gene_medgen"} ! WDR35
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013570
name: combined oxidative phosphorylation defect type 8
def: "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." [Orphanet:319504]
subset: gard_rare {source="GARD:17452", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319504"}
subset: orphanet_rare {source="Orphanet:319504"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cardiomyopathy, hypertrophic mitochondrial, fatal infantile" RELATED [OMIM:614096]
synonym: "combined oxidative phosphorylation deficiency 8" RELATED [MONDO:Lexical, OMIM:614096]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in AARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 8" EXACT [MONDORULE:1, OMIM:614096]
synonym: "COXPD8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614096, Orphanet:319504]
xref: DOID:0111479 {source="MONDO:equivalentTo"}
xref: GARD:17452 {source="MONDO:GARD"}
xref: MEDGEN:1377817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614096 {source="Orphanet:319504", source="MONDO:equivalentTo", source="Orphanet:319504/e"}
xref: Orphanet:319504 {source="MONDO:equivalentTo", source="OMIM:614096"}
xref: SCTID:733600007 {source="MONDO:equivalentTo"}
xref: UMLS:C4518839 {source="MEDGEN:1377817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:614096", source="MONDO:Redundant", source="OMIM:614096"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21022 ! AARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21022 {source="MONDO:mim2gene_medgen"} ! AARS2

[Term]
id: MONDO:0013571
name: acatalasia
def: "A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide." [Orphanet:926]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:363", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:926"}
subset: orphanet_rare {source="Orphanet:926"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acatalasemia" EXACT [OMIM:614097]
synonym: "acatalasia" EXACT CLINGEN_LABEL [OMIM:614097]
synonym: "catalase deficiency" EXACT [OMIM:614097, Orphanet:926]
synonym: "deficiency of catalase" EXACT [DOID:2582]
xref: DOID:2582 {source="EFO:0004144", source="MONDO:equivalentTo"}
xref: EFO:0004144 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:363 {source="MONDO:GARD"}
xref: HGNC:1516 {source="EFO:0004144"}
xref: ICD10CM:E80.3 {source="Orphanet:926/specific", source="Orphanet:926", source="Orphanet:926/e"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020642 {source="DOID:2582", source="EFO:0004144", source="MONDO:equivalentTo"}
xref: NANDO:1200774 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84526 {source="DOID:2582", source="MONDO:equivalentTo"}
xref: OMIM:614097 {source="DOID:2582", source="MONDO:equivalentTo", source="Orphanet:926", source="Orphanet:926/e"}
xref: Orphanet:926 {source="MONDO:equivalentTo", source="OMIM:614097"}
xref: SCTID:111393000 {source="DOID:2582"}
xref: SCTID:124202004 {source="MONDO:equivalentTo"}
xref: SCTID:190954001 {source="DOID:2582"}
xref: SCTID:267454002 {source="DOID:2582"}
xref: UMLS:C0268419 {source="MEDGEN:75679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100306 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisome oxidative status
relationship: excluded_subClassOf MONDO:0017753 {source="Orphanet:926", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1516 {source="MONDO:mim2gene_medgen"} ! CAT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013572
name: Keppen-Lubinsky syndrome
subset: gard_rare {source="GARD:17716", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435628"}
subset: ordo_malformation_syndrome {source="Orphanet:435628"}
subset: orphanet_rare {source="Orphanet:435628"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT OMO:0003005 []
synonym: "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT [Orphanet:435628]
synonym: "KEPPEN-Lubinsky syndrome" RELATED [OMIM:614098]
synonym: "Keppen-Lubinsky syndrome" EXACT [MONDO:Lexical, OMIM:614098]
synonym: "KPLBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614098]
xref: GARD:17716 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:435628", source="Orphanet:435628/attributed", source="Orphanet:435628/ntbt"}
xref: MEDGEN:481430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614098 {source="MONDO:equivalentTo", source="Orphanet:435628", source="Orphanet:435628/e"}
xref: Orphanet:435628 {source="MONDO:equivalentTo"}
xref: UMLS:C3279800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481430"}
is_a: MONDO:0020087 {source="Orphanet:435628"} ! hereditary lipodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6267 {source="MONDO:mim2gene_medgen"} ! KCNJ6

[Term]
id: MONDO:0013573
name: cranioectodermal dysplasia 3
def: "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15757", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CED3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614099]
synonym: "CRANIOECTODERMAL dysplasia 3" RELATED [OMIM:614099]
synonym: "cranioectodermal dysplasia 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614099]
synonym: "cranioectodermal dysplasia caused by mutation in IFT43" EXACT [MONDO:design_pattern]
synonym: "Cranioectodermal dysplasia type 3" EXACT [MONDORULE:1, OMIM:614099]
synonym: "IFT43 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080805 {source="MONDO:equivalentTo"}
xref: GARD:15757 {source="MONDO:GARD"}
xref: MEDGEN:481437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614099 {source="MONDO:equivalentTo"}
xref: Orphanet:1515 {source="OMIM:614099"}
xref: UMLS:C3279807 {source="MEDGEN:481437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:614099", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia
intersection_of: MONDO:0009032 ! cranioectodermal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29669 ! IFT43
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614099"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29669 {source="MONDO:mim2gene_medgen"} ! IFT43

[Term]
id: MONDO:0013574
name: cutis laxa - Marfanoid syndrome
subset: gard_rare {source="GARD:17069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171719"}
subset: ordo_malformation_syndrome {source="Orphanet:171719"}
subset: orphanet_rare {source="Orphanet:171719"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutis laxa - Marfanoid syndrome" EXACT [OMIM:614100]
synonym: "cutis laxa, neonatal, with MARFANOID phenotype" RELATED [OMIM:614100]
xref: GARD:17069 {source="MONDO:GARD"}
xref: MEDGEN:96594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563639 {source="MONDO:equivalentTo"}
xref: OMIM:614100 {source="MONDO:equivalentTo", source="Orphanet:171719", source="Orphanet:171719/e"}
xref: Orphanet:171719 {source="MONDO:equivalentTo", source="OMIM:614100"}
xref: SCTID:254221009 {source="MONDO:equivalentTo"}
xref: UMLS:C0432335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96594"}
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis

[Term]
id: MONDO:0013575
name: plasma fibronectin deficiency
synonym: "plasma fibronectin deficiency" EXACT [OMIM:614101]
xref: MEDGEN:436433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614101 {source="MONDO:equivalentTo"}
xref: UMLS:C2675436 {source="MEDGEN:436433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 {source="MONDO:mim2gene_medgen"} ! FN1

[Term]
id: MONDO:0013576
name: recurrent infections associated with rare immunoglobulin isotypes deficiency
def: "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." [Orphanet:183675]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17086", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:183675"}
subset: orphanet_rare {source="Orphanet:183675"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IgG subclass deficiency with IgA subclass deficiency" EXACT [Orphanet:183675]
synonym: "IGKCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614102]
synonym: "IMMUNOGLOBULIN kappa LIGHT chain deficiency" RELATED [MONDO:Lexical, OMIM:614102]
synonym: "isolated IgG subclass deficiency" EXACT [Orphanet:183675]
synonym: "kappa chain deficiency" RELATED [OMIM:614102]
synonym: "kappa light chain deficiency" EXACT [OMIM:614102, OMIM:genemap2]
synonym: "kappa-chain deficiency" EXACT [Orphanet:183675]
synonym: "recurrent infections associated with rare immunoglobulin isotypes deficiency" EXACT CLINGEN_LABEL []
synonym: "selective IgG subclass deficiency" RELATED [Orphanet:183675]
xref: GARD:17086 {source="MONDO:GARD"}
xref: MEDGEN:481454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564131 {source="MONDO:equivalentTo"}
xref: NANDO:2200719 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:614102 {source="Orphanet:183675/e", source="MONDO:equivalentTo", source="Orphanet:183675"}
xref: Orphanet:183675 {source="OMIM:614102", source="MONDO:equivalentTo"}
xref: UMLS:C3279824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481454"}
is_a: MONDO:0003778 {source="PMID:11941303", source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5716 {source="MONDO:mim2gene_medgen"} ! IGKC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013577
name: Lipedema
def: "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." [MESH:D065134]
subset: otar {source="MONDO:OTAR"}
synonym: "lipedema" EXACT [MONDO:ambiguous]
synonym: "Lipedema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0100695 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E65 {source="Orphanet:77243/attributed", source="Orphanet:77243/ntbt", source="Orphanet:77243"}
xref: MedDRA:10063955 {source="Orphanet:77243/e", source="Orphanet:77243"}
xref: MEDGEN:451048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065134 {source="MONDO:equivalentTo"}
xref: OMIM:614103 {source="Orphanet:77243/e", source="MONDO:equivalentTo", source="Orphanet:77243"}
xref: Orphanet:77243 {source="OMIM:614103", source="MONDO:equivalentObsolete"}
xref: SCTID:234102003 {source="MONDO:equivalentTo"}
xref: UMLS:C0398370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:451048"}
is_a: MONDO:0019296 {source="Orphanet:77243"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare
property_value: IAO:0000589 "Lipedema (disease)" xsd:string

[Term]
id: MONDO:0013578
name: DYRK1A-related intellectual disability syndrome
def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." [DOID:0070037]
subset: gard_rare {source="GARD:13527", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464306"}
subset: ordo_malformation_syndrome {source="Orphanet:464306"}
subset: orphanet_rare {source="Orphanet:464306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 7" EXACT [DOID:0070037]
synonym: "autosomal dominant mental retardation 7" EXACT DEPRECATED [DOID:0070037]
synonym: "autosomal dominant non-syndromic intellectual disability 7" RELATED [DOID:0070037]
synonym: "intellectual disability, autosomal dominant 7" RELATED [MONDO:Lexical, OMIM:614104]
synonym: "intellectual disability, autosomal dominant type 7" EXACT [MONDORULE:1, OMIM:614104]
synonym: "mental retardation, autosomal dominant 7" RELATED DEPRECATED [MONDO:Lexical, OMIM:614104]
synonym: "mental retardation, autosomal dominant type 7" EXACT DEPRECATED [MONDORULE:1, OMIM:614104]
synonym: "MRD7" EXACT ABBREVIATION [DOID:0070037, MONDO:Lexical, OMIM:614104]
xref: DOID:0070037 {source="MONDO:equivalentTo"}
xref: GARD:13527 {source="MONDO:GARD"}
xref: MEDGEN:1799566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614104 {source="MONDO:equivalentTo", source="DOID:0070037", source="Orphanet:464306", source="Orphanet:464306/e"}
xref: Orphanet:464306 {source="MONDO:equivalentTo"}
xref: UMLS:C5568143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799566"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464306", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:464306"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070037", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3091 {source="MONDO:mim2gene_medgen"} ! DYRK1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013579
name: methylmalonate semialdehyde dehydrogenase deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17322", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289307"}
subset: orphanet_rare {source="Orphanet:289307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "developmental delay due to ALDH6A1 deficiency" EXACT [Orphanet:289307]
synonym: "developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "developmental delay due to MMSDH deficiency" EXACT [Orphanet:289307]
synonym: "methylmalonate semialdehyde dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614105]
synonym: "MMSDH deficiency" RELATED [OMIM:614105]
synonym: "MMSDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614105]
xref: GARD:17322 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:289307", source="Orphanet:289307/attributed", source="Orphanet:289307/ntbt"}
xref: MEDGEN:481470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566402 {source="MONDO:equivalentTo"}
xref: OMIM:614105 {source="MONDO:equivalentTo", source="Orphanet:289307", source="Orphanet:289307/e"}
xref: Orphanet:289307 {source="OMIM:614105", source="MONDO:equivalentTo"}
xref: UMLS:C3279840 {source="MEDGEN:481470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0019242 {source="Orphanet:289307"} ! inborn disorder of branched-chain amino acid metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7179 {source="MONDO:mim2gene_medgen"} ! ALDH6A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0013580
name: pyruvate dehydrogenase E1-beta deficiency
def: "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." [Orphanet:255138]
subset: gard_rare {source="GARD:17236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:255138"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PDHBD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614111, Orphanet:255138]
synonym: "pyruvate dehydrogenase complex E1 component subunit beta deficiency" EXACT [Orphanet:255138]
synonym: "pyruvate dehydrogenase E1-BETA deficiency" RELATED [OMIM:614111]
synonym: "pyruvate dehydrogenase E1-beta deficiency" EXACT [MONDO:Lexical, OMIM:614111]
xref: GARD:17236 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:255138", source="Orphanet:255138/attributed", source="Orphanet:255138/ntbt"}
xref: MEDGEN:481471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566729 {source="MONDO:equivalentTo"}
xref: OMIM:614111 {source="MONDO:equivalentTo", source="Orphanet:255138", source="Orphanet:255138/e"}
xref: Orphanet:255138 {source="MONDO:equivalentTo", source="OMIM:614111"}
xref: Orphanet:765 {source="OMIM:614111"}
xref: UMLS:C3279841 {source="MONDO:equivalentTo", source="MEDGEN:481471", source="MONDO:MEDGEN"}
is_a: MONDO:0019169 {source="DC-OMIM:614111", source="OMIM:614111", source="Orphanet:255138"} ! pyruvate dehydrogenase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8808 {source="MONDO:mim2gene_medgen"} ! PDHB

[Term]
id: MONDO:0013581
name: intellectual disability, autosomal dominant 2
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16458", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 2" EXACT [DOID:0070032]
synonym: "autosomal dominant mental retardation 2" EXACT DEPRECATED [DOID:0070032]
synonym: "autosomal dominant non-syndromic intellectual disability 2" RELATED [DOID:0070032]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8" EXACT [MONDO:design_pattern]
synonym: "DOCK8 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:614113]
synonym: "intellectual disability, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614113]
synonym: "mental retardation, autosomal dominant 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:614113]
synonym: "mental retardation, autosomal dominant type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614113]
synonym: "MRD2" EXACT ABBREVIATION [DOID:0070032, MONDO:Lexical, OMIM:614113]
xref: DOID:0070032 {source="MONDO:equivalentTo"}
xref: GARD:16458 {source="MONDO:GARD"}
xref: MEDGEN:481472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614113 {source="DOID:0070032", source="MONDO:equivalentTo"}
xref: UMLS:C3279842 {source="MEDGEN:481472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614113"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 ! DOCK8
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 {source="MONDO:mim2gene_medgen"} ! DOCK8

[Term]
id: MONDO:0013582
name: mosaic variegated aneuploidy syndrome 2
def: "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15758", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP57 mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MOSAIC variegated aneuploidy syndrome 2" RELATED [OMIM:614114]
synonym: "mosaic variegated aneuploidy syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614114]
synonym: "mosaic variegated aneuploidy syndrome caused by mutation in CEP57" EXACT [MONDO:design_pattern]
synonym: "Mosaic variegated aneuploidy syndrome type 2" EXACT [MONDORULE:1, OMIM:614114]
synonym: "mosaic variegated aneuploidy syndrome type 2" EXACT [DOID:0080142, MONDORULE:1]
synonym: "MVA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614114]
xref: DOID:0080142 {source="MONDO:equivalentTo"}
xref: GARD:15758 {source="MONDO:GARD"}
xref: MEDGEN:481473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168989 {source="MONDO:equivalentTo"}
xref: OMIM:614114 {source="DOID:0080142", source="MONDO:equivalentTo"}
xref: Orphanet:1052 {source="OMIM:614114"}
xref: UMLS:C3279843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481473"}
is_a: MONDO:0000141 {source="MONDO:Redundant", source="OMIM:614114"} ! mosaic variegated aneuploidy syndrome
is_a: MONDO:0019040 {source="MONDO:Redundant", source="Orphanet:1052"} ! chromosomal disorder
intersection_of: MONDO:0000141 ! mosaic variegated aneuploidy syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30794 ! CEP57
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30794 {source="MONDO:mim2gene_medgen"} ! CEP57

[Term]
id: MONDO:0013583
name: occipital pachygyria and polymicrogyria
subset: gard_rare {source="GARD:17299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280640"}
subset: ordo_malformation_syndrome {source="Orphanet:280640"}
subset: orphanet_rare {source="Orphanet:280640"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cortical malformations, occipital" RELATED [MONDO:Lexical, OMIM:614115]
synonym: "occipital malformations of cortical development" EXACT [Orphanet:280640]
synonym: "occipital MCD" EXACT [Orphanet:280640]
synonym: "OCCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614115]
xref: GARD:17299 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:280640/attributed", source="Orphanet:280640/ntbt", source="Orphanet:280640"}
xref: MEDGEN:481505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614115 {source="Orphanet:280640/e", source="MONDO:equivalentTo", source="Orphanet:280640"}
xref: Orphanet:280640 {source="OMIM:614115", source="MONDO:equivalentTo"}
xref: UMLS:C3279875 {source="MEDGEN:481505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6494 {source="MONDO:mim2gene_medgen"} ! LAMC3

[Term]
id: MONDO:0013584
name: hereditary sensory neuropathy-deafness-dementia syndrome
def: "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." [DOID:0070158]
subset: gard_rare {source="GARD:11927", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1903", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:456318"}
subset: orphanet_rare {source="Orphanet:456318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DNMT1-related dementia, deafness, and sensory neuropathy" RELATED [GARD:0011927]
synonym: "Hereditary Sensory and Autonomic Neuropathy Type 1E" EXACT [NORD:1903]
synonym: "hereditary sensory and autonomic neuropathy type 1E" RELATED [GARD:0011927]
synonym: "hereditary sensory neuropathy type 1E" RELATED [DOID:0070158]
synonym: "hereditary sensory neuropathy type IE" EXACT [DOID:0070158]
synonym: "hereditary sensory neuropathy with hearing loss and dementia" RELATED [GARD:0011927]
synonym: "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome" EXACT [Orphanet:456318]
synonym: "HSAN1E" EXACT ABBREVIATION [Orphanet:456318]
synonym: "HSN 1E" RELATED [OMIM:614116]
synonym: "HSN1E" EXACT ABBREVIATION [DOID:0070158, MONDO:Lexical, OMIM:614116, Orphanet:456318]
synonym: "HSNIE" RELATED ABBREVIATION [GARD:0011927]
synonym: "neuropathy, hereditary sensory, type 1E" RELATED [OMIM:614116]
synonym: "neuropathy, hereditary sensory, type IE" RELATED [MONDO:Lexical, OMIM:614116]
synonym: "neuropathy, hereditary sensory, with hearing loss and dementia" RELATED [OMIM:614116]
xref: DOID:0070158 {source="MONDO:equivalentTo"}
xref: GARD:11927 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:456318", source="DOID:0070158", source="Orphanet:456318/attributed", source="Orphanet:456318/ntbt"}
xref: MEDGEN:481515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580162 {source="MONDO:equivalentTo"}
xref: NORD:1903 {source="MONDO:NORD"}
xref: OMIM:614116 {source="MONDO:equivalentTo", source="Orphanet:456318", source="DOID:0070158", source="Orphanet:456318/e"}
xref: Orphanet:456318 {source="MONDO:equivalentTo", source="DOID:0070158"}
xref: UMLS:C3279885 {source="MEDGEN:481515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="Orphanet:456318"} ! sleep-wake disorder
is_a: MONDO:0015364 {source="DOID:0070158", source="MESH:C580162", source="OMIM:614116", source="Orphanet:456318/inferred"} ! hereditary sensory and autonomic neuropathy
is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:456318", source="Orphanet:456318/inferred"} ! hereditary dementia
is_a: MONDO:0018213 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary sensory and autonomic neuropathy type 1
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:456318", source="Orphanet:456318/inferred"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2976 {source="MONDO:mim2gene_medgen"} ! DNMT1

[Term]
id: MONDO:0013585
name: hydrolethalus syndrome 2
def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614120]
synonym: "hydrolethalus syndrome 2" EXACT [MONDO:Lexical, OMIM:614120]
synonym: "hydrolethalus syndrome caused by mutation in KIF7" EXACT [MONDO:design_pattern]
synonym: "hydrolethalus syndrome type 2" EXACT [MONDORULE:1, OMIM:614120]
synonym: "KIF7 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111356 {source="MONDO:equivalentTo"}
xref: GARD:15759 {source="MONDO:GARD"}
xref: MEDGEN:481529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614120 {source="MONDO:equivalentTo"}
xref: Orphanet:2189 {source="OMIM:614120"}
xref: UMLS:C3279899 {source="MEDGEN:481529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006037 {source="DC-OMIM:614120", source="MONDO:Redundant", source="OMIM:614120"} ! hydrolethalus syndrome
is_a: MONDO:0800463 {source="PMID:21552264", source="PMID:230301500", source="https://clinicalgenome.org/affiliation/40060/"} ! KIF7-related ciliopathy
intersection_of: MONDO:0006037 ! hydrolethalus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 ! KIF7
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614120"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 {source="MONDO:mim2gene_medgen"} ! KIF7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0013586
name: obsolete Chitotriosidase deficiency
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "CHITD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614122]
synonym: "CHITOTRIOSIDASE deficiency" RELATED [OMIM:614122]
synonym: "Chitotriosidase deficiency" EXACT [MONDO:Lexical, OMIM:614122]
synonym: "chitotriosidase deficiency" EXACT [OMIM:614122, OMIM:genemap2]
xref: OMIM:614122 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0013587
name: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner." [GARD:0003161]
subset: gard_rare {source="GARD:3161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:284435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogenosis due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435]
synonym: "GSD due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435]
synonym: "lactate dehydrogenase B deficiency" EXACT [MONDO:Lexical, OMIM:614128, Orphanet:284435]
synonym: "lactate dehydrogenase deficiency type B" RELATED [GARD:0003161]
synonym: "lactate dehydrogenase-B deficiency" EXACT [OMIM:614128, OMIM:genemap2]
synonym: "LDH deficiency B" RELATED [GARD:0003161]
synonym: "LDH-H subunit deficiency" EXACT [Orphanet:284435]
synonym: "LDHBD" RELATED ABBREVIATION [GARD:0003161, MONDO:Lexical, OMIM:614128]
xref: GARD:3161 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:284435/attributed", source="Orphanet:284435/ntbt", source="Orphanet:284435"}
xref: MEDGEN:481534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563641 {source="MONDO:equivalentTo"}
xref: OMIM:614128 {source="Orphanet:284435/e", source="MONDO:equivalentTo", source="GARD:0003161", source="Orphanet:284435"}
xref: Orphanet:2364 {source="OMIM:614128"}
xref: Orphanet:284435 {source="OMIM:614128", source="MONDO:equivalentTo"}
xref: UMLS:C3279904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481534"}
is_a: MONDO:0016527 {source="Orphanet:284435"} ! glycogen storage disease due to lactate dehydrogenase deficiency
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6541 {source="MONDO:mim2gene_medgen"} ! LDHB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency" xsd:anyURI {source="GARD:0003161"}

[Term]
id: MONDO:0013588
name: Perrault syndrome 3
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene." [MONDO:patterns/disease_series_by_gene]
comment: based on OMIM phenotypic series 220290. {source="OMIM:614129"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15760", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CLPP Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 81" RELATED [OMIM:614129]
synonym: "deafness, autosomal recessive 81, formerly" RELATED [OMIM:614129]
synonym: "Perrault syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614129]
synonym: "Perrault syndrome caused by mutation in CLPP" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 3" EXACT [MONDORULE:1, OMIM:614129]
synonym: "PRLTS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614129]
xref: GARD:15760 {source="MONDO:GARD"}
xref: MEDGEN:814744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614129 {source="MONDO:equivalentTo"}
xref: Orphanet:2855 {source="OMIM:614129"}
xref: UMLS:C3808414 {source="MEDGEN:814744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017312 {source="DC-OMIM:614129", source="MONDO:Redundant", source="OMIM:614129"} ! Perrault syndrome
intersection_of: MONDO:0017312 ! Perrault syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2084 ! CLPP
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614129"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2084 {source="MONDO:mim2gene_medgen"} ! CLPP

[Term]
id: MONDO:0013589
name: focal segmental glomerulosclerosis 6
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "focal segmental glomerulosclerosis 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614131]
synonym: "focal segmental glomerulosclerosis caused by mutation in MYO1E" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 6" EXACT [DOID:0111131, MONDORULE:1, OMIM:614131]
synonym: "FSGS6" EXACT ABBREVIATION [DOID:0111131, MONDO:Lexical, OMIM:614131]
synonym: "glomerulosclerosis, focal segmental, 6" RELATED [OMIM:614131]
synonym: "MYO1E focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111131 {source="MONDO:equivalentTo"}
xref: GARD:15761 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="DOID:0111131"}
xref: MEDGEN:481535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614131 {source="MONDO:equivalentTo", source="DOID:0111131"}
xref: Orphanet:656 {source="MONDO:relatedTo", source="OMIM:614131"}
xref: UMLS:C3279905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481535"}
is_a: MONDO:0005363 {source="DC-OMIM:614131", source="DOID:0111131", source="MONDO:Redundant", source="OMIM:614131"} ! inherited focal segmental glomerulosclerosis
intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7599 ! MYO1E
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7599 {source="MONDO:mim2gene_medgen"} ! MYO1E

[Term]
id: MONDO:0013590
name: Stickler syndrome, type 4
def: "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18358", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A1" EXACT [MONDO:design_pattern]
synonym: "COL9A1 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STICKLER syndrome, type IV" RELATED [MONDO:Lexical, OMIM:614134]
synonym: "STL4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614134]
xref: GARD:18358 {source="MONDO:GARD"}
xref: MEDGEN:481571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614134 {source="MONDO:equivalentTo"}
xref: Orphanet:250984 {source="OMIM:614134"}
xref: Orphanet:828 {source="OMIM:614134"}
xref: UMLS:C3279941 {source="MEDGEN:481571", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:614134"} ! Stickler syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2217 {source="MONDO:mim2gene_medgen"} ! COL9A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013591
name: epiphyseal dysplasia, multiple, 6
def: "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COL9A1 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "EDM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614135]
synonym: "epiphyseal dysplasia, multiple, 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614135]
synonym: "epiphyseal dysplasia, multiple, type 6" EXACT [MONDORULE:1, OMIM:614135]
synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1" EXACT []
synonym: "multiple epiphyseal dysplasia 6" RELATED [GARD:0013376]
xref: DOID:0070301 {source="MONDO:equivalentTo"}
xref: GARD:13376 {source="MONDO:GARD"}
xref: MEDGEN:436517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614135 {source="MONDO:equivalentTo"}
xref: Orphanet:166002 {source="OMIM:614135"}
xref: UMLS:C2675767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436517"}
is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly
is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:614135"} ! multiple epiphyseal dysplasia
intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2217 ! COL9A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2217 {source="MONDO:mim2gene_medgen"} ! COL9A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13376/multiple-epiphyseal-dysplasia-6" xsd:anyURI {source="GARD:0013376"}

[Term]
id: MONDO:0013592
name: nonsyndromic congenital nail disorder 9
subset: gard_rare {source="GARD:15762", source="MONDO:GARD"}
subset: rare
synonym: "anonychia-onycholysis, isolated" RELATED [OMIM:614149]
synonym: "nail disorder, nonsyndromic congenital, 9" RELATED [MONDO:Lexical, OMIM:614149]
synonym: "nail dysplasia" RELATED [OMIM:614149]
synonym: "NDNC9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614149]
synonym: "nonsyndromic congenital nail disorder type 9" EXACT [DOID:0080087, MONDORULE:1]
synonym: "onychodystrophy" RELATED [OMIM:614149]
xref: DOID:0080087 {source="MONDO:equivalentTo"}
xref: GARD:15762 {source="MONDO:GARD"}
xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:481577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614149 {source="DOID:0080087", source="MONDO:equivalentTo"}
xref: Orphanet:79143 {source="OMIM:614149"}
xref: Orphanet:90390 {source="OMIM:614149"}
xref: SCTID:87065009 {source="MONDO:equivalentTo"}
xref: UMLS:C3279947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481577"}
is_a: MONDO:0019211 {source="MONDO:Redundant", source="Orphanet:79143/btnt"} ! isolated congenital anonychia
is_a: MONDO:0019284 {source="DC-OMIM:614149", source="OMIM:614149"} ! inherited isolated nail anomaly
is_a: MONDO:0019577 {source="Orphanet:90390/btnt"} ! anonychia-onychodystrophy syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013593
name: autosomal dominant nonsyndromic hearing loss 64
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 64" NARROW [DOID:0110585]
synonym: "autosomal dominant nonsyndromic deafness 64" NARROW [OMIM:614152]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIABLO" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 64" NARROW [DOID:0110585, MONDORULE:2]
synonym: "deafness, autosomal dominant 64" NARROW [MONDO:Lexical, OMIM:614152, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 64" NARROW [MONDORULE:2, OMIM:614152]
synonym: "DFNA64" NARROW ABBREVIATION [DOID:0110585, MONDO:Lexical, OMIM:614152]
synonym: "DIABLO autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110585 {source="MONDO:equivalentTo"}
xref: GARD:18134 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110585"}
xref: MEDGEN:481578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614152 {source="MONDO:equivalentTo", source="DOID:0110585"}
xref: UMLS:C3279948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481578"}
is_a: MONDO:0019587 {source="DC-OMIM:614152", source="DOID:0110585", source="MONDO:Redundant", source="OMIM:614152"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21528 ! DIABLO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21528 {source="MONDO:mim2gene_medgen"} ! DIABLO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013594
name: spinocerebellar ataxia type 36
def: "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." [Orphanet:276198]
subset: gard_rare {source="GARD:12367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276198"}
subset: orphanet_rare {source="Orphanet:276198"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Asidan" EXACT [Orphanet:276198]
synonym: "SCA36" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614153, Orphanet:276198]
synonym: "spinocerebellar ataxia 36" RELATED [MONDO:Lexical, OMIM:614153]
synonym: "spinocerebellar ataxia type 36" EXACT [MONDORULE:2, OMIM:614153]
xref: DOID:0050983 {source="MONDO:equivalentTo"}
xref: GARD:12367 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:276198", source="Orphanet:276198/attributed", source="Orphanet:276198/ntbt"}
xref: MEDGEN:483339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200048 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C148316 {source="MONDO:equivalentTo"}
xref: OMIM:614153 {source="Orphanet:276198", source="DOID:0050983", source="MONDO:equivalentTo", source="Orphanet:276198/e"}
xref: Orphanet:276198 {source="MONDO:equivalentTo", source="OMIM:614153"}
xref: SCTID:711158005 {source="MONDO:equivalentTo"}
xref: UMLS:C3472711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483339"}
is_a: MONDO:0019792 {source="Orphanet:276198"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15911 {source="MONDO:mim2gene_medgen"} ! NOP56

[Term]
id: MONDO:0013595
name: hyperbiliverdinemia
def: "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." [Orphanet:276405]
subset: gard_rare {source="GARD:17279", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276405"}
subset: orphanet_rare {source="Orphanet:276405"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "green jaundice" EXACT [OMIM:614156, Orphanet:276405]
synonym: "HBLVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614156]
synonym: "hyperbiliverdinemia" EXACT [MONDO:Lexical, OMIM:614156]
xref: GARD:17279 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:276405/attributed", source="Orphanet:276405/ntbt", source="Orphanet:276405"}
xref: MEDGEN:481594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614156 {source="Orphanet:276405/e", source="MONDO:equivalentTo", source="Orphanet:276405"}
xref: Orphanet:276405 {source="OMIM:614156", source="MONDO:equivalentTo"}
xref: UMLS:C3279964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481594"}
is_a: MONDO:0005154 {source="Orphanet:276405"} ! liver disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015507"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1062 {source="MONDO:mim2gene_medgen"} ! BLVRA

[Term]
id: MONDO:0013596
name: obsolete nonsyndromic congenital nail disorder 10
xref: OMIM:614157 {source="DOID:0080088", source="Orphanet:280654/e", source="Orphanet:280654", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1394" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008060

[Term]
id: MONDO:0013597
name: platelet-type bleeding disorder 14
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDPLT14" EXACT ABBREVIATION [DOID:0111047, MONDO:Lexical, OMIM:614158]
synonym: "bleeding disorder, platelet-type, 14" RELATED [MONDO:Lexical, OMIM:614158]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in TBXAS1" EXACT [MONDO:design_pattern]
synonym: "TBXAS1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "thromboxane synthase deficiency" EXACT [DOID:0111047]
synonym: "thromboxane synthetase deficiency" RELATED [OMIM:614158]
xref: DOID:0111047 {source="MONDO:equivalentTo"}
xref: MEDGEN:98307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562866 {source="MONDO:equivalentTo"}
xref: OMIM:614158 {source="MONDO:equivalentTo", source="DOID:0111047"}
xref: SCTID:234477002 {source="MONDO:equivalentTo"}
xref: UMLS:C0398635 {source="MEDGEN:98307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="DC-OMIM:614158", source="MONDO:Redundant", source="OMIM:614158"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0001531 {source="DOID:0111047", source="MONDO:Redundant"} ! blood coagulation disease
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11609 ! TBXAS1
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020116"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11609 {source="MONDO:mim2gene_medgen"} ! TBXAS1

[Term]
id: MONDO:0013598
name: myostatin-related muscle hypertrophy
def: "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance." [https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy]
subset: otar {source="MONDO:OTAR"}
synonym: "MSLHP" EXACT ABBREVIATION [DOID:0111072, MONDO:Lexical, OMIM:614160]
synonym: "muscle hypertrophy" RELATED [MONDO:Lexical, OMIM:614160]
xref: DOID:0111072 {source="MONDO:equivalentTo"}
xref: HGNC:4223 {source="GARD:0010238"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:418994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536106 {source="MONDO:equivalentTo"}
xref: OMIM:614160 {source="DOID:0111072", source="MONDO:equivalentTo", source="Orphanet:275534", source="Orphanet:275534/e"}
xref: Orphanet:275534 {source="DOID:0111072", source="MONDO:equivalentObsolete", source="OMIM:614160"}
xref: SCTID:699185005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418994"}
is_a: MONDO:0003847 {source="Orphanet:275534"} ! hereditary disease
is_a: MONDO:0003939 {source="DOID:0111072"} ! muscle tissue disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4223 {source="MONDO:mim2gene_medgen"} ! MSTN
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy" xsd:anyURI {source="GARD:0010238"}

[Term]
id: MONDO:0013599
name: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
def: "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." [Orphanet:391487]
subset: gard_rare {source="GARD:12314", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391487"}
subset: orphanet_rare {source="Orphanet:391487"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "CANDF7" RELATED ABBREVIATION [GARD:0012314]
synonym: "candidiasis familial chronic mucocutaneous, autosomal dominant" RELATED [GARD:0012314]
synonym: "candidiasis familial, 7" RELATED [GARD:0012314]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [OMIM:614162]
synonym: "candidiasis, familial, 7" RELATED [OMIM:614162]
synonym: "familial chronic mucocutaneous, autosomal dominant" RELATED [GARD:0012314]
synonym: "IMD31C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614162]
synonym: "immunodeficiency 31C" RELATED [MONDO:Lexical, OMIM:614162]
synonym: "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" EXACT [OMIM:614162, OMIM:genemap2]
synonym: "immunodeficiency type 31C" EXACT [MONDORULE:4, OMIM:614162]
xref: DOID:0111946 {source="MONDO:equivalentTo"}
xref: GARD:12314 {source="MONDO:GARD"}
xref: ICD10CM:K63.9 {source="Orphanet:391487/attributed", source="Orphanet:391487/ntbt", source="Orphanet:391487"}
xref: MEDGEN:481620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614162 {source="Orphanet:391487/e", source="MONDO:equivalentTo", source="Orphanet:391487"}
xref: Orphanet:391487 {source="MONDO:equivalentTo"}
xref: UMLS:C3279990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481620"}
is_a: MONDO:0015126 {source="Orphanet:391487"} ! polyendocrinopathy
is_a: MONDO:0019787 {source="Orphanet:391487"} ! autoimmune enteropathy
intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 ! STAT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 {source="MONDO:mim2gene_medgen"} ! STAT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013600
name: insomnia
def: "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." [NCIT:P378]
subset: otar {source="MONDO:OTAR"}
synonym: "delayed sleep phase disorder, susceptibility to" RELATED [OMIM:614163]
synonym: "delayed sleep phase syndrome, susceptibility to" RELATED [MONDO:Lexical, OMIM:614163]
synonym: "DSPD" RELATED ABBREVIATION [OMIM:614163]
synonym: "DSPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614163]
synonym: "insomnia" EXACT [MONDO:ambiguous]
synonym: "insomnia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:0004698 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100785 {source="EFO:0004698", source="MONDO:otherHierarchy"}
xref: ICD10CM:G47.0 {source="MONDO:equivalentTo"}
xref: ICD10WHO:G47.0 {source="MONDO:equivalentTo"}
xref: ICD9:780.52 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:214589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007319 {source="MONDO:equivalentTo"}
xref: NCIT:C28286 {source="EFO:0004698", source="MONDO:equivalentTo"}
xref: SCTID:193462001 {source="EFO:0004698", source="MONDO:equivalentTo"}
xref: UMLS:C0917801 {source="MONDO:equivalentTo", source="MEDGEN:214589", source="MONDO:MEDGEN"}
is_a: MONDO:0100081 {source="https://github.com/monarch-initiative/mondo/issues/531"} ! sleep disorder
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain
relationship: excluded_subClassOf MONDO:0003406 {source="EFO:0004698", source="ICD10CM:G47.0", source="MESH:D007319/inferred", source="NCIT:C28286", source="https://orcid.org/0000-0001-5208-3432"} ! sleep-wake disorder
relationship: excluded_subClassOf MONDO:0005084 {source="EFO:0004698", source="EFO:0004698/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! mental disorder
property_value: IAO:0000589 "insomnia (disease)" xsd:string

[Term]
id: MONDO:0013601
name: gluthathione peroxidase deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glutathione peroxidase deficiency" RELATED [MONDO:Lexical, OMIM:614164]
synonym: "gluthathione peroxidase deficiency" EXACT []
synonym: "GPXD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614164]
synonym: "hemolytic anaemia due to glutathione peroxidase deficiency" EXACT OMO:0003005 []
synonym: "hemolytic anemia due to glutathione peroxidase deficiency" EXACT [OMIM:614164, OMIM:genemap2]
xref: MEDGEN:473098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614164 {source="MONDO:equivalentTo"}
xref: SCTID:234590006 {source="MONDO:equivalentTo"}
xref: UMLS:C0398747 {source="MEDGEN:473098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 ! inborn errors of metabolism
is_a: MONDO:0024626 ! defective phagocytic cell engulfment
relationship: disease_has_basis_in_disruption_of GO:0004602 ! glutathione peroxidase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4553 {source="MONDO:mim2gene_medgen"} ! GPX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013602
name: paragangliomas 5
def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15763", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "paraganglioma caused by mutation in SDHA" EXACT [MONDO:design_pattern]
synonym: "paragangliomas 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614165]
synonym: "paragangliomas type 5" EXACT [MONDORULE:1, OMIM:614165]
synonym: "PGL5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614165]
synonym: "SDHA paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15763 {source="MONDO:GARD"}
xref: MEDGEN:481622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614165 {source="MONDO:equivalentTo"}
xref: Orphanet:29072 {source="OMIM:614165"}
xref: UMLS:C3279992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481622"}
is_a: MONDO:0000448 {source="DC-OMIM:614165", source="MONDO:Redundant", source="OMIM:614165"} ! paraganglioma
is_a: MONDO:0006295 {source="MONDO:Redundant"} ! malignant urinary system neoplasm
is_a: MONDO:0017366 {source="Orphanet:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10680 ! SDHA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10680 {source="MONDO:mim2gene_medgen"} ! SDHA

[Term]
id: MONDO:0013603
name: myopia 20, autosomal dominant
synonym: "myopia 20, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614166]
synonym: "MYP20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614166]
xref: MEDGEN:481626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614166 {source="MONDO:equivalentTo"}
xref: UMLS:C3279996 {source="MEDGEN:481626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:614166", source="OMIM:614166"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013604
name: myopia 21, autosomal dominant
def: "Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "myopia (disease) caused by mutation in ZNF644" EXACT []
synonym: "myopia 21, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614167]
synonym: "MYP21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614167]
synonym: "ZNF644 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:481627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614167 {source="MONDO:equivalentTo"}
xref: UMLS:C3279997 {source="MEDGEN:481627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:614167", source="MONDO:Redundant", source="OMIM:614167"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0001384 ! myopia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29222 ! ZNF644
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29222 {source="MONDO:mim2gene_medgen"} ! ZNF644

[Term]
id: MONDO:0013605
name: brittle cornea syndrome 2
def: "Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614170]
synonym: "brittle cornea syndrome 2" EXACT [MONDO:Lexical, OMIM:614170]
synonym: "brittle cornea syndrome caused by mutation in PRDM5" EXACT [MONDO:design_pattern]
synonym: "brittle cornea syndrome type 2" EXACT [MONDORULE:1, OMIM:614170]
synonym: "PRDM5 brittle cornea syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080729 {source="MONDO:equivalentTo"}
xref: GARD:15764 {source="MONDO:GARD"}
xref: MEDGEN:481641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614170 {source="MONDO:equivalentTo"}
xref: Orphanet:90354 {source="OMIM:614170"}
xref: UMLS:C3280011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481641"}
is_a: MONDO:0009242 {source="MONDO:Redundant", source="OMIM:614170", source="Orphanet:90354/btnt"} ! brittle cornea syndrome
intersection_of: MONDO:0009242 ! brittle cornea syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9349 ! PRDM5
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614170"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9349 {source="MONDO:mim2gene_medgen"} ! PRDM5

[Term]
id: MONDO:0013606
name: Hermansky-Pudlak syndrome 9
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18338", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BLOC1S6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614171]
synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 9" EXACT [DOID:0060547, MONDORULE:1, OMIM:614171]
synonym: "HPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614171, Orphanet:280663]
xref: DOID:0060547 {source="MONDO:equivalentTo"}
xref: GARD:18338 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:280663", source="Orphanet:280663/attributed", source="Orphanet:280663/ntbt"}
xref: MEDGEN:481656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614171 {source="Orphanet:280663/e", source="MONDO:equivalentTo", source="DOID:0060547", source="Orphanet:280663"}
xref: Orphanet:280663 {source="MONDO:equivalentObsolete", source="OMIM:614171"}
xref: Orphanet:79430 {source="OMIM:614171"}
xref: UMLS:C3280026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481656"}
is_a: MONDO:0015541 ! hereditary hemophagocytic lymphohistiocytosis
is_a: MONDO:0019312 {source="DC-OMIM:614171", source="DOID:0060547", source="MONDO:Redundant", source="OMIM:614171", source="Orphanet:280663"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8549 ! BLOC1S6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8549 {source="MONDO:mim2gene_medgen"} ! BLOC1S6

[Term]
id: MONDO:0013607
name: monocytopenia with susceptibility to infections
subset: gard_rare {source="GARD:10934", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228423"}
subset: orphanet_rare {source="Orphanet:228423"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" EXACT [Orphanet:228423]
synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections" RELATED [OMIM:614172]
synonym: "DCML" RELATED ABBREVIATION [GARD:0010934]
synonym: "Dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT [Orphanet:228423]
synonym: "Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency" RELATED [OMIM:614172]
synonym: "GATA2 deficiency" RELATED [OMIM:614172]
synonym: "IMD21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614172]
synonym: "immunodeficiency 21" RELATED [MONDO:Lexical, OMIM:614172]
synonym: "immunodeficiency type 21" EXACT [MONDORULE:2, OMIM:614172]
synonym: "monocyte - B - natural killer - dendritic cell deficiency" RELATED [GARD:0010934]
synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT [Orphanet:228423]
synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [OMIM:614172, Orphanet:228423]
synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia" RELATED [OMIM:614172]
synonym: "MonoMAC" EXACT [Orphanet:228423]
xref: DOID:0111947 {source="MONDO:equivalentTo"}
xref: GARD:10934 {source="MONDO:GARD"}
xref: ICD10CM:D72.8 {source="Orphanet:228423/attributed", source="Orphanet:228423/ntbt", source="Orphanet:228423"}
xref: MEDGEN:481660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614172 {source="Orphanet:228423/e", source="MONDO:equivalentTo", source="Orphanet:228423"}
xref: Orphanet:228423 {source="MONDO:equivalentTo", source="OMIM:614172"}
xref: UMLS:C3280030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481660"}
is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4171 {source="MONDO:mim2gene_medgen"} ! GATA2

[Term]
id: MONDO:0013608
name: Joubert syndrome 13
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15765", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS13" EXACT ABBREVIATION [DOID:0110982, MONDO:Lexical, OMIM:614173]
synonym: "Joubert syndrome 13" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614173]
synonym: "Joubert syndrome caused by mutation in TCTN1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 13" EXACT [DOID:0110982, MONDORULE:2, OMIM:614173]
synonym: "TCTN1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110982 {source="MONDO:equivalentTo"}
xref: GARD:15765 {source="MONDO:GARD"}
xref: MEDGEN:481661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614173 {source="MONDO:equivalentTo", source="DOID:0110982"}
xref: Orphanet:475 {source="OMIM:614173"}
xref: UMLS:C3280031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481661"}
is_a: MONDO:0018772 {source="DC-OMIM:614173", source="DOID:0110982", source="MONDO:Redundant", source="OMIM:614173"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26113 ! TCTN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26113 {source="MONDO:mim2gene_medgen"} ! TCTN1

[Term]
id: MONDO:0013609
name: Meckel syndrome, type 10
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "B9D2 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS34" RELATED ABBREVIATION [GTR:AN1012610]
synonym: "Joubert syndrome 34" RELATED [GTR:AN1012156, OMIM:614175]
synonym: "meckel syndrome 10" EXACT [OMIM:614175, OMIM:genemap2]
synonym: "Meckel syndrome caused by mutation in B9D2" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 10" EXACT [MONDO:Lexical, OMIM:614175]
synonym: "MKS10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614175]
xref: GTR:AN1012156
xref: GTR:AN1012610
xref: MEDGEN:481666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614175 {source="MONDO:equivalentTo"}
xref: Orphanet:564 {source="OMIM:614175"}
xref: UMLS:C3280036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481666"}
is_a: MONDO:0018921 {source="DC-OMIM:614175", source="MONDO:Redundant", source="OMIM:614175"} ! Meckel syndrome
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28636 ! B9D2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28636 {source="MONDO:mim2gene_medgen"} ! B9D2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013610
name: retinitis pigmentosa 61
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CLRN1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 61" EXACT [MONDO:Lexical, OMIM:614180]
synonym: "retinitis pigmentosa caused by mutation in CLRN1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 61" EXACT [DOID:0110373, MONDORULE:2, OMIM:614180]
synonym: "RP61" EXACT ABBREVIATION [DOID:0110373, MONDO:Lexical, OMIM:614180]
xref: DOID:0110373 {source="MONDO:equivalentTo"}
xref: GARD:15766 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110373"}
xref: MEDGEN:481671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614180 {source="MONDO:equivalentTo", source="DOID:0110373"}
xref: UMLS:C3280041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481671"}
is_a: MONDO:0019200 {source="DC-OMIM:614180", source="DOID:0110373", source="MONDO:Redundant", source="OMIM:614180"} ! retinitis pigmentosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12605 {source="MONDO:mim2gene_medgen"} ! CLRN1

[Term]
id: MONDO:0013611
name: retinitis pigmentosa 62
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MAK retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 62" EXACT [MONDO:Lexical, OMIM:614181]
synonym: "retinitis pigmentosa caused by mutation in MAK" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 62" EXACT [DOID:0110380, MONDORULE:2, OMIM:614181]
synonym: "RP62" EXACT ABBREVIATION [DOID:0110380, MONDO:Lexical, OMIM:614181]
xref: DOID:0110380 {source="MONDO:equivalentTo"}
xref: GARD:15767 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110380"}
xref: MEDGEN:481672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614181 {source="MONDO:equivalentTo", source="DOID:0110380"}
xref: UMLS:C3280042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481672"}
is_a: MONDO:0019200 {source="DC-OMIM:614181", source="DOID:0110380", source="MONDO:Redundant", source="OMIM:614181"} ! retinitis pigmentosa
is_a: MONDO:0700229 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! MAK-related retinopathy
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6816 ! MAK
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6816 {source="MONDO:mim2gene_medgen"} ! MAK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0013612
name: geleophysic dysplasia 2
def: "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:15768", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FBN1 geleophysic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GELEOPHYSIC dysplasia 2" RELATED [OMIM:614185]
synonym: "Geleophysic dysplasia 2" EXACT [MONDO:Lexical, OMIM:614185]
synonym: "geleophysic dysplasia caused by mutation in FBN1" EXACT [MONDO:design_pattern]
synonym: "Geleophysic dysplasia type 2" EXACT [MONDORULE:1, OMIM:614185]
synonym: "GPHYSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614185]
xref: DOID:0111726 {source="MONDO:equivalentTo"}
xref: GARD:15768 {source="MONDO:GARD"}
xref: MEDGEN:481684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614185 {source="MONDO:equivalentTo"}
xref: Orphanet:2623 {source="OMIM:614185"}
xref: UMLS:C3280054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481684"}
is_a: MONDO:0000127 {source="DC-OMIM:614185", source="MONDO:Redundant", source="OMIM:614185"} ! geleophysic dysplasia
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
intersection_of: MONDO:0000127 ! geleophysic dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 ! FBN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013613
name: Leber congenital amaurosis 16
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KCNJ13 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA16" EXACT ABBREVIATION [DOID:0110118, MONDO:Lexical, OMIM:614186]
synonym: "Leber congenital amaurosis 16" EXACT [MONDO:Lexical, OMIM:614186]
synonym: "Leber congenital amaurosis caused by mutation in KCNJ13" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 16" EXACT [DOID:0110118, MONDORULE:2, OMIM:614186]
xref: DOID:0110118 {source="MONDO:equivalentTo"}
xref: GARD:10885 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110118", source="MONDO:relatedTo"}
xref: MEDGEN:481692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614186 {source="DOID:0110118", source="MONDO:equivalentTo"}
xref: Orphanet:65 {source="OMIM:614186"}
xref: UMLS:C3280062 {source="MEDGEN:481692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018998 {source="DC-OMIM:614186", source="DOID:0110118", source="MONDO:Redundant", source="OMIM:614186"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6259 ! KCNJ13
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6259 {source="MONDO:mim2gene_medgen"} ! KCNJ13
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10885/leber-congenital-amaurosis-16" xsd:anyURI {source="GARD:0010885"}

[Term]
id: MONDO:0013614
name: hypertelorism-preauricular sinus-punctual pits-deafness syndrome
subset: gard_rare {source="GARD:17351", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:293958"}
subset: ordo_malformation_syndrome {source="Orphanet:293958"}
subset: orphanet_rare {source="Orphanet:293958"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614187, Orphanet:293958]
synonym: "hypertelorism, preauricular sinus, punctal pits, and deafness" RELATED [MONDO:Lexical, OMIM:614187]
synonym: "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" EXACT [Orphanet:293958]
xref: GARD:17351 {source="MONDO:GARD"}
xref: MEDGEN:1659106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614187 {source="Orphanet:293958", source="MONDO:equivalentTo", source="Orphanet:293958/e"}
xref: Orphanet:293958 {source="MONDO:equivalentTo", source="OMIM:614187"}
xref: UMLS:C4751125 {source="MEDGEN:1659106", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:293958/inferred"} ! hereditary disease

[Term]
id: MONDO:0013615
name: craniosynostosis and dental anomalies
subset: gard_rare {source="GARD:17309", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284149"}
subset: ordo_malformation_syndrome {source="Orphanet:284149"}
subset: orphanet_rare {source="Orphanet:284149"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis and dental anomalies" EXACT [MONDO:Lexical, OMIM:614188]
synonym: "craniosynostosis-dental anomalies" RELATED [Orphanet:284149]
synonym: "CRSDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614188]
synonym: "Kreiborg-Pakistani syndrome" EXACT [OMIM:614188, Orphanet:284149]
xref: GARD:17309 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:284149/attributed", source="Orphanet:284149/ntbt", source="Orphanet:284149"}
xref: MEDGEN:481703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614188 {source="Orphanet:284149/e", source="MONDO:equivalentTo", source="Orphanet:284149"}
xref: Orphanet:284149 {source="MONDO:equivalentTo", source="OMIM:614188"}
xref: UMLS:C3280073 {source="MEDGEN:481703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:284149"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:30811827", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5967 {source="MONDO:mim2gene_medgen"} ! IL11RA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0013616
name: pigmented nodular adrenocortical disease, primary, 3
def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15769", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cushing syndrome, adrenal, due to PPNAD3" RELATED [OMIM:614190]
synonym: "PDE8B primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pigmented nodular adrenocortical disease, primary, 3" EXACT [MONDO:Lexical, OMIM:614190]
synonym: "pigmented nodular adrenocortical disease, primary, type 3" EXACT [MONDORULE:1, OMIM:614190]
synonym: "PPNAD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614190]
synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B" EXACT [MONDO:design_pattern]
xref: GARD:15769 {source="MONDO:GARD"}
xref: MEDGEN:481724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614190 {source="MONDO:equivalentTo"}
xref: Orphanet:189439 {source="OMIM:614190"}
xref: UMLS:C3280094 {source="MEDGEN:481724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015999 {source="DC-OMIM:614190", source="MONDO:Redundant", source="OMIM:614190"} ! primary pigmented nodular adrenocortical disease
intersection_of: MONDO:0015999 ! primary pigmented nodular adrenocortical disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8794 ! PDE8B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8794 {source="MONDO:mim2gene_medgen"} ! PDE8B

[Term]
id: MONDO:0013617
name: obsolete overgrowth-macrocephaly-facial dysmorphism syndrome
xref: OMIM:614192 {source="Orphanet:137634", source="Orphanet:137634/e", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4209" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013357

[Term]
id: MONDO:0013618
name: craniofacial anomalies and anterior segment dysgenesis syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "CAASDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614195]
synonym: "craniofacial anomalies and anterior segment dysgenesis syndrome" EXACT [MONDO:Lexical, OMIM:614195]
xref: MEDGEN:481729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614195 {source="MONDO:equivalentTo"}
xref: UMLS:C3280099 {source="MONDO:equivalentTo", source="MEDGEN:481729", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12723 {source="MONDO:mim2gene_medgen"} ! VSX1

[Term]
id: MONDO:0013619
name: nephrotic syndrome, type 6
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15770", source="MONDO:GARD"}
subset: rare
synonym: "nephrotic syndrome caused by mutation in PTPRO" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 6" EXACT [MONDO:Lexical, OMIM:614196]
synonym: "NPHS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614196]
synonym: "PTPRO nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080384 {source="MONDO:equivalentTo"}
xref: GARD:15770 {source="MONDO:GARD"}
xref: MEDGEN:481730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614196 {source="MONDO:equivalentTo"}
xref: UMLS:C3280100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481730"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:614196"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:614196"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9678 ! PTPRO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9678 {source="MONDO:mim2gene_medgen"} ! PTPRO

[Term]
id: MONDO:0013620
name: congenital myasthenic syndrome 16
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15771", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS16" EXACT ABBREVIATION [DOID:0110682, MONDO:Lexical, OMIM:614198]
synonym: "congenital myasthenic syndrome acetazolamide-responsive" EXACT [DOID:0110682]
synonym: "congenital myasthenic syndrome caused by mutation in SCN4A" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 16" EXACT [DOID:0110682, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 16" RELATED [MONDO:Lexical, OMIM:614198]
synonym: "myasthenic syndrome, congenital, Acetazolamide-responsive" RELATED [OMIM:614198]
synonym: "myasthenic syndrome, congenital, type 16" EXACT [MONDORULE:2, OMIM:614198]
synonym: "SCN4A congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110682 {source="MONDO:equivalentTo"}
xref: GARD:15771 {source="MONDO:GARD"}
xref: MEDGEN:481742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614198 {source="MONDO:equivalentTo", source="DOID:0110682"}
xref: Orphanet:590 {source="OMIM:614198"}
xref: Orphanet:98913 {source="OMIM:614198"}
xref: UMLS:C3280112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481742"}
is_a: MONDO:0018940 {source="DOID:0110682", source="MONDO:Redundant", source="OMIM:614198"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
is_a: MONDO:0100121 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! SCN4A-related myopathy, autosomal recessive
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 ! SCN4A
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="MONDO:mim2gene_medgen"} ! SCN4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013621
name: LAMB2-related infantile-onset nephrotic syndrome
def: "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal." [Orphanet:306507]
subset: otar {source="MONDO:OTAR"}
synonym: "mesangial sclerosis, diffuse renal, with ocular abnormalities" EXACT [MONDO:0009586, OMIM:249660]
synonym: "nephrotic syndrome, type 5, with or without ocular abnormalities" RELATED [MONDO:Lexical, OMIM:614199]
synonym: "NPHS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614199]
xref: DOID:0080380 {source="MONDO:equivalentTo"}
xref: ICD10CM:N04.8 {source="Orphanet:306507/attributed", source="Orphanet:306507/ntbt", source="Orphanet:306507"}
xref: MEDGEN:481743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565405 {source="MONDO:equivalentTo"}
xref: OMIM:249660 {source="MONDO:equivalentObsolete"}
xref: OMIM:614199 {source="Orphanet:306507", source="MONDO:equivalentTo", source="Orphanet:306507/e"}
xref: Orphanet:306507 {source="MONDO:equivalentTo", source="OMIM:614199"}
xref: UMLS:C3280113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481743"}
is_a: MONDO:0002350 {source="OMIM:614199"} ! familial nephrotic syndrome
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005377 {source="DC-OMIM:614199", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="OMIM:614199"} ! nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6487 ! LAMB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6487 {source="MONDO:mim2gene_medgen"} ! LAMB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7329" xsd:anyURI

[Term]
id: MONDO:0013622
name: platelet-type bleeding disorder 9
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16868", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98886"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98886"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT9" EXACT ABBREVIATION [DOID:0111045, MONDO:Lexical, OMIM:614200]
synonym: "bleeding diathesis due to integrin alpha2-beta1 deficiency" RELATED [Orphanet:98886]
synonym: "bleeding disorder, platelet-type, 9" RELATED [MONDO:Lexical, OMIM:614200]
synonym: "collagen platelet receptor deficiency" EXACT [DOID:0111045]
synonym: "glycoprotein Ia deficiency" EXACT [DOID:0111045]
synonym: "GP Ia deficiency" EXACT [DOID:0111045, OMIM:614200]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" EXACT [MONDO:design_pattern]
synonym: "ITGA2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111045 {source="MONDO:equivalentTo"}
xref: GARD:16868 {source="MONDO:GARD"}
xref: ICD10CM:D69.8 {source="Orphanet:98886", source="Orphanet:98886/attributed", source="Orphanet:98886/ntbt", source="DOID:0111045"}
xref: MEDGEN:481744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566000 {source="MONDO:equivalentTo"}
xref: OMIM:614200 {source="Orphanet:98886", source="MONDO:equivalentTo", source="Orphanet:98886/e", source="DOID:0111045"}
xref: Orphanet:73271 {source="OMIM:614200"}
xref: Orphanet:98886 {source="OMIM:614200", source="MONDO:equivalentTo", source="DOID:0111045"}
xref: UMLS:C3280114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481744"}
is_a: MONDO:0000009 {source="DC-OMIM:614200", source="MONDO:Redundant", source="OMIM:614200"} ! inherited bleeding disorder, platelet-type
intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6137 ! ITGA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6137 {source="MONDO:mim2gene_medgen"} ! ITGA2

[Term]
id: MONDO:0013623
name: platelet-type bleeding disorder 11
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13293", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98885"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98885"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT11" EXACT ABBREVIATION [DOID:0111057, MONDO:Lexical, OMIM:614201]
synonym: "bleeding diathesis due to glycoprotein VI deficiency" RELATED [Orphanet:98885]
synonym: "bleeding disorder, platelet-type, 11" RELATED [MONDO:Lexical, OMIM:614201]
synonym: "glycoprotein 6 deficiency" RELATED [OMIM:614201]
synonym: "glycoprotein VI deficiency" EXACT [DOID:0111057]
synonym: "GP 6 deficiency" RELATED [OMIM:614201]
synonym: "GP VI deficiency" EXACT [DOID:0111057]
synonym: "GP6 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in GP6" EXACT [MONDO:design_pattern]
synonym: "platelet-type bleeding disorder 11" EXACT CLINGEN_LABEL []
synonym: "platelet-type bleeding disorder-11" RELATED [GARD:0013293]
xref: DOID:0111057 {source="MONDO:equivalentTo"}
xref: GARD:13293 {source="MONDO:GARD"}
xref: ICD10CM:D69.8 {source="Orphanet:98885/attributed", source="Orphanet:98885/ntbt", source="Orphanet:98885", source="DOID:0111057"}
xref: MEDGEN:481750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200670 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:614201 {source="Orphanet:98885", source="MONDO:equivalentTo", source="Orphanet:98885/e", source="DOID:0111057"}
xref: Orphanet:73271 {source="OMIM:614201"}
xref: Orphanet:98885 {source="OMIM:614201", source="MONDO:equivalentTo", source="DOID:0111057"}
xref: SCTID:765977002 {source="MONDO:equivalentTo"}
xref: UMLS:C3280120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481750"}
is_a: MONDO:0000009 {source="DC-OMIM:614201", source="MONDO:Redundant", source="OMIM:614201"} ! inherited bleeding disorder, platelet-type
intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14388 ! GP6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14388 {source="MONDO:mim2gene_medgen"} ! GP6

[Term]
id: MONDO:0013624
name: Rafiq syndrome
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1" EXACT [MONDO:design_pattern]
synonym: "CDG2U" EXACT [OMIM:614202]
synonym: "intellectual disability, autosomal recessive 15" EXACT [OMIM:614202]
synonym: "MAN1B1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 15" EXACT DEPRECATED [DOID:1059, MONDO:Lexical, OMIM:614202]
synonym: "mental retardation, autosomal recessive type 15" EXACT DEPRECATED [MONDORULE:2, OMIM:614202]
synonym: "MRT15" RELATED DEPRECATED [MONDO:Lexical, OMIM:614202]
synonym: "RAFQS" EXACT ABBREVIATION [OMIM:614202]
xref: DOID:0081097 {source="MONDO:equivalentTo"}
xref: GARD:22550 {source="MONDO:GARD"}
xref: MEDGEN:481757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84392 {source="DOID:1059"}
xref: OMIM:614202 {source="MONDO:equivalentTo"}
xref: SCTID:154978008 {source="DOID:1059"}
xref: UMLS:C3280127 {source="MEDGEN:481757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:614202", source="MONDO:Redundant", source="OMIM:614202"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6823 ! MAN1B1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6823 {source="MONDO:mim2gene_medgen"} ! MAN1B1

[Term]
id: MONDO:0013625
name: Parkinson disease 17
def: "Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18478", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Parkinson disease 17" EXACT [DOID:0060897]
synonym: "PARK17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614203]
synonym: "Parkinson disease 17" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614203]
synonym: "Parkinson disease caused by mutation in VPS35" EXACT [MONDO:design_pattern]
synonym: "Parkinson disease type 17" EXACT [DOID:0060897, MONDORULE:2, OMIM:614203]
synonym: "Parkinson's disease 17" RELATED [DOID:0060897]
synonym: "VPS35 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060897 {source="MONDO:equivalentTo"}
xref: GARD:18478 {source="MONDO:GARD"}
xref: MEDGEN:481763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614203 {source="DOID:0060897", source="MONDO:equivalentTo"}
xref: Orphanet:411602 {source="OMIM:614203"}
xref: UMLS:C3280133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481763"}
is_a: MONDO:0005180 {source="DOID:0060897/inferred", source="MONDO:Redundant", source="OMIM:614203"} ! Parkinson disease
is_a: MONDO:0008199 {source="DOID:0060897", source="Orphanet:411602"} ! late-onset Parkinson disease
intersection_of: MONDO:0005180 ! Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13487 ! VPS35
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13487 {source="MONDO:mim2gene_medgen"} ! VPS35

[Term]
id: MONDO:0013626
name: psoriasis 14, pustular
def: "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17679", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:404546", source="Orphanet:163931"}
subset: orphanet_rare {source="Orphanet:404546", source="Orphanet:163931"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrodermatitis continua of Hallopeau" EXACT [OMIM:614204]
synonym: "acrodermatitis continua suppurativa of Hallopeau" EXACT [OMIM:614204]
synonym: "deficiency of IL-36R antagonist" EXACT [Orphanet:404546]
synonym: "deficiency of IL-36Ra" EXACT [Orphanet:404546]
synonym: "deficiency of the interleukin-36 receptor antagonist" EXACT [NCIT:C119057]
synonym: "DITRA" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204]
synonym: "familial generalised pustular psoriasis" EXACT OMO:0003005 []
synonym: "familial generalized pustular psoriasis" EXACT [NCIT:C119057]
synonym: "generalised pustular psoriasis" RELATED OMO:0003005 []
synonym: "generalized pustular psoriasis" RELATED [OMIM:614204]
synonym: "GPP" RELATED ABBREVIATION [OMIM:614204, Orphanet:247353]
synonym: "IL36RN psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Interleukin 36 receptor antagonist deficiency" EXACT [OMIM:614204]
synonym: "palmoplantar pustulosis" BROAD [OMIM:614204]
synonym: "psoriasis 14, pustular" EXACT [MONDO:Lexical, OMIM:614204]
synonym: "psoriasis caused by mutation in IL36RN" EXACT [MONDO:design_pattern]
synonym: "PSORP" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204]
synonym: "PSORS14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614204]
xref: DOID:0080474 {source="MONDO:equivalentTo"}
xref: GARD:17679 {source="MONDO:GARD"}
xref: ICD10CM:L40.1 {source="Orphanet:247353/specific", source="Orphanet:404546", source="Orphanet:247353/e", source="Orphanet:404546/attributed", source="Orphanet:404546/ntbt", source="Orphanet:247353"}
xref: ICD10CM:L40.2 {source="Orphanet:163931", source="Orphanet:163931/ntbt", source="Orphanet:163931/index"}
xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:581114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200244 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200452 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119057 {source="MONDO:equivalentTo"}
xref: OMIM:614204 {source="Orphanet:404546", source="Orphanet:404546/ntbt", source="MONDO:equivalentTo", source="Orphanet:247353/ntbt", source="Orphanet:247353"}
xref: Orphanet:163931 {source="MONDO:equivalentTo"}
xref: Orphanet:404546 {source="OMIM:614204", source="MONDO:equivalentTo"}
xref: SCTID:238612002 {source="MONDO:relatedTo"}
xref: SCTID:83839005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0392439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581114"}
is_a: MONDO:0003847 {source="OMIM:614204"} ! hereditary disease
is_a: MONDO:0005083 {source="DC-OMIM:614204", source="MONDO:Redundant", source="OMIM:614204"} ! psoriasis
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119057", source="Orphanet:404546/inferred", source="PMID:23827249"} ! autoinflammatory syndrome
intersection_of: MONDO:0005083 ! psoriasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15561 ! IL36RN
relationship: excluded_subClassOf MONDO:0019299 {source="Orphanet:163931", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified genetic skin disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15561 {source="MONDO:mim2gene_medgen"} ! IL36RN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2829" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4496" xsd:anyURI

[Term]
id: MONDO:0013627
name: 3M syndrome 3
def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15772", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "3-M syndrome 3" EXACT [OMIM:614205, OMIM:genemap2]
synonym: "3-M syndrome caused by mutation in CCDC8" EXACT [MONDO:design_pattern]
synonym: "3M syndrome 3" EXACT CLINGEN_LABEL [OMIM:614205]
synonym: "3M3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614205]
synonym: "CCDC8 3-M syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "three M syndrome 3" EXACT [MONDO:Lexical, OMIM:614205]
synonym: "three M syndrome type 3" EXACT [MONDORULE:1, OMIM:614205]
xref: GARD:15772 {source="MONDO:GARD"}
xref: MEDGEN:481776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614205 {source="MONDO:equivalentTo"}
xref: Orphanet:2616 {source="OMIM:614205"}
xref: UMLS:C3280146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481776"}
is_a: MONDO:0007477 {source="DC-OMIM:614205", source="MONDO:Redundant", source="OMIM:614205"} ! 3-M syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0007477 ! 3-M syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25367 ! CCDC8
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614205"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25367 {source="MONDO:mim2gene_medgen"} ! CCDC8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013628
name: hyperphosphatasia with intellectual disability syndrome 3
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18350", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glycosylphosphatidylinositol biosynthesis defect 8" RELATED [OMIM:614207]
synonym: "HPMRS3" RELATED DEPRECATED [MONDO:Lexical, OMIM:614207]
synonym: "hyperphosphatasia with intellectual disability syndrome 3" EXACT [MONDO:Lexical, OMIM:614207]
synonym: "hyperphosphatasia with intellectual disability syndrome type 3" EXACT [MONDORULE:1, OMIM:614207]
synonym: "hyperphosphatasia with mental retardation syndrome 3" EXACT DEPRECATED [MONDO:Lexical, OMIM:614207]
synonym: "hyperphosphatasia with mental retardation syndrome type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:614207]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 17" RELATED [OMIM:614207]
synonym: "intellectual disability, autosomal recessive 21" RELATED [OMIM:614207]
synonym: "mental retardation, autosomal recessive 17" RELATED DEPRECATED [OMIM:614207]
synonym: "mental retardation, autosomal recessive 21" RELATED DEPRECATED [OMIM:614207]
synonym: "PGAP2 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070435 {source="MONDO:equivalentTo"}
xref: GARD:18350 {source="MONDO:GARD"}
xref: MEDGEN:481783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614207 {source="MONDO:equivalentTo"}
xref: Orphanet:247262 {source="OMIM:614207"}
xref: UMLS:C3280153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481783"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614207", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17893 ! PGAP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17893 {source="MONDO:mim2gene_medgen"} ! PGAP2

[Term]
id: MONDO:0013629
name: intellectual disability, autosomal recessive 16
subset: gard_rare {source="GARD:22551", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 16" EXACT [MONDO:Lexical, OMIM:614208]
synonym: "mental retardation, autosomal recessive 16" RELATED DEPRECATED [MONDO:Lexical, OMIM:614208]
synonym: "MRT16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614208]
xref: DOID:0081189 {source="MONDO:equivalentTo"}
xref: GARD:22551 {source="MONDO:GARD"}
xref: MEDGEN:481784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614208 {source="MONDO:equivalentTo"}
xref: UMLS:C3280154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481784"}
is_a: MONDO:0019502 {source="DC-OMIM:614208", source="OMIM:614208"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013630
name: Meckel syndrome, type 9
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15773", source="MONDO:GARD"}
subset: rare
synonym: "B9D1 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "meckel syndrome 9" EXACT [OMIM:614209, OMIM:genemap2]
synonym: "Meckel syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 9" EXACT [MONDO:Lexical, OMIM:614209]
synonym: "MKS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614209]
xref: GARD:15773 {source="MONDO:GARD"}
xref: MEDGEN:481785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614209 {source="MONDO:equivalentTo"}
xref: Orphanet:564 {source="OMIM:614209"}
xref: UMLS:C3280155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481785"}
is_a: MONDO:0018921 {source="DC-OMIM:614209", source="MONDO:Redundant", source="OMIM:614209"} ! Meckel syndrome
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24123 ! B9D1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24123 {source="MONDO:mim2gene_medgen"} ! B9D1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013631
name: lung cancer susceptibility 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LNCR5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614210]
synonym: "lung cancer susceptibility 5" EXACT [MONDO:Lexical, OMIM:614210]
xref: MEDGEN:481786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614210 {source="MONDO:equivalentTo"}
xref: UMLS:C3280156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481786"}
is_a: MONDO:0020573 {source="OMIM:614210", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0008903 {source="DC-OMIM:614210", source="https://orcid.org/0000-0001-5208-3432"} ! lung cancer
relationship: predisposes_towards MONDO:0008903 {source="OMIM:614210"} ! lung cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013632
name: autosomal dominant nonsyndromic hearing loss 33
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34." [DOID:0110562, PMID:19183916]
subset: gard_rare {source="GARD:18135", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 33" NARROW [DOID:0110562]
synonym: "autosomal dominant nonsyndromic deafness 33" NARROW [OMIM:614211]
synonym: "autosomal dominant nonsyndromic deafness type 33" NARROW [DOID:0110562, MONDORULE:2]
synonym: "deafness, autosomal dominant 33" NARROW [MONDO:Lexical, OMIM:614211, OMIM:genemap2]
synonym: "DFNA33" NARROW ABBREVIATION [DOID:0110562, MONDO:Lexical, OMIM:614211]
xref: DOID:0110562 {source="MONDO:equivalentTo"}
xref: GARD:18135 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110562"}
xref: MEDGEN:854638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614211 {source="MONDO:equivalentTo", source="DOID:0110562"}
xref: Orphanet:90635 {source="OMIM:614211"}
xref: UMLS:C3887930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854638"}
is_a: MONDO:0019587 {source="DC-OMIM:614211", source="DOID:0110562", source="OMIM:614211"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013633
name: encephalopathy, acute, infection-induced, susceptibility to, 4
def: "Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CPT2 encephalopathy, acute, infection-induced" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "encephalopathy, acute, infection-induced caused by mutation in CPT2" EXACT [MONDO:design_pattern]
synonym: "encephalopathy, acute, infection-induced, 4, susceptibility to" EXACT [OMIM:614212, OMIM:genemap2]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614212]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614212]
synonym: "IIAE4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614212]
xref: MEDGEN:481790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614212 {source="MONDO:equivalentTo"}
xref: Orphanet:263524 {source="OMIM:614212"}
xref: UMLS:C3280160 {source="MONDO:equivalentTo", source="MEDGEN:481790", source="MONDO:MEDGEN"}
is_a: MONDO:0800174 {source="DC-OMIM:614212", source="MONDO:Redundant", source="OMIM:614212"} ! encephalitis, acute, infection-induced, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 ! CPT2
intersection_of: predisposes_towards MONDO:0000166 ! encephalopathy, acute, infection-induced
relationship: excluded_subClassOf MONDO:0016991 {source="Orphanet:263524/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! acute necrotizing encephalopathy of childhood
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2330 {source="MONDO:mim2gene_medgen"} ! CPT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013634
name: neuropathy, hereditary sensory, type 2C
def: "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory neuropathy type 2C" RELATED [DOID:0070147]
synonym: "hereditary sensory neuropathy type IIC" EXACT [DOID:0070147]
synonym: "HSN2C" EXACT ABBREVIATION [DOID:0070147, MONDO:Lexical, OMIM:614213]
synonym: "KIF1A hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuropathy, hereditary sensory, type IIC" RELATED [MONDO:Lexical, OMIM:614213]
xref: DOID:0070147 {source="MONDO:equivalentTo"}
xref: GARD:15774 {source="MONDO:GARD"}
xref: MEDGEN:481798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614213 {source="MONDO:equivalentTo", source="DOID:0070147"}
xref: Orphanet:970 {source="OMIM:614213"}
xref: UMLS:C3280168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481798"}
is_a: MONDO:0019941 {source="DOID:0070147", source="MONDO:Redundant", source="Orphanet:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2
is_a: MONDO:0700055 {source="https://orcid.org/0000-0002-8134-1207"} ! KIF1A related neurological disorder
intersection_of: MONDO:0019941 ! hereditary sensory and autonomic neuropathy type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 ! KIF1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 {source="MONDO:mim2gene_medgen"} ! KIF1A

[Term]
id: MONDO:0013635
name: Adams-Oliver syndrome 2
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Adams-Oliver syndrome 2" EXACT [MONDO:Lexical, OMIM:614219]
synonym: "Adams-Oliver syndrome caused by mutation in DOCK6" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 2" EXACT [MONDORULE:1, OMIM:614219]
synonym: "AOS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614219]
synonym: "DOCK6 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15775 {source="MONDO:GARD"}
xref: MEDGEN:481812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614219 {source="MONDO:equivalentTo"}
xref: Orphanet:974 {source="OMIM:614219"}
xref: UMLS:C3280182 {source="MEDGEN:481812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614219", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0007034 ! Adams-Oliver syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19189 ! DOCK6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19189 {source="MONDO:mim2gene_medgen"} ! DOCK6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013636
name: primary biliary cholangitis 4
subset: gard_rare {source="GARD:15776", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "biliary cirrhosis, primary, 4" RELATED [MONDO:Lexical, OMIM:614220]
synonym: "PBC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614220]
xref: DOID:0070361 {source="MONDO:equivalentTo"}
xref: GARD:15776 {source="MONDO:GARD"}
xref: MEDGEN:481831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614220 {source="MONDO:equivalentTo"}
xref: Orphanet:186 {source="OMIM:614220"}
xref: UMLS:C3280201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481831"}
is_a: MONDO:0005388 {source="DC-OMIM:614220", source="OMIM:614220"} ! primary biliary cholangitis

[Term]
id: MONDO:0013637
name: primary biliary cholangitis 5
subset: gard_rare {source="GARD:15777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "biliary cirrhosis, primary, 5" RELATED [MONDO:Lexical, OMIM:614221]
synonym: "PBC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614221]
xref: DOID:0070362 {source="MONDO:equivalentTo"}
xref: GARD:15777 {source="MONDO:GARD"}
xref: MEDGEN:481832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614221 {source="MONDO:equivalentTo"}
xref: Orphanet:186 {source="OMIM:614221"}
xref: UMLS:C3280202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481832"}
is_a: MONDO:0005388 {source="DC-OMIM:614221", source="OMIM:614221"} ! primary biliary cholangitis

[Term]
id: MONDO:0013638
name: Warburg micro syndrome 3
def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "micro syndrome 3" EXACT [DOID:0110718, OMIM:614222]
synonym: "RAB18 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WARBM3" EXACT ABBREVIATION [DOID:0110718, MONDO:Lexical, OMIM:614222]
synonym: "WARBURG micro syndrome 3" RELATED [OMIM:614222]
synonym: "Warburg micro syndrome 3" EXACT [MONDO:Lexical, OMIM:614222]
synonym: "Warburg micro syndrome caused by mutation in RAB18" EXACT [MONDO:design_pattern]
synonym: "Warburg micro syndrome type 3" EXACT [DOID:0110718, MONDORULE:1, OMIM:614222]
xref: DOID:0110718 {source="MONDO:equivalentTo"}
xref: GARD:15778 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="DOID:0110718"}
xref: MEDGEN:481833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614222 {source="MONDO:equivalentTo", source="DOID:0110718"}
xref: Orphanet:2510 {source="OMIM:614222"}
xref: UMLS:C3280203 {source="MEDGEN:481833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016649 {source="DC-OMIM:614222", source="DOID:0110718", source="MONDO:Redundant", source="OMIM:614222"} ! Warburg micro syndrome
intersection_of: MONDO:0016649 ! Warburg micro syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14244 ! RAB18
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614222"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14244 {source="MONDO:mim2gene_medgen"} ! RAB18

[Term]
id: MONDO:0013639
name: narcolepsy 6, susceptibility to
subset: predisposition
synonym: "narcolepsy 6" RELATED [OMIM:614223, OMIM:genemap2]
synonym: "narcolepsy 6, susceptibility to" EXACT [OMIM:614223]
synonym: "NRCLP6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614223]
xref: MEDGEN:481834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614223 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:614223"}
xref: UMLS:C3280204 {source="MEDGEN:481834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100049 {source="DC-OMIM:614223"} ! narcolepsy, susceptibility to
relationship: excluded_subClassOf MONDO:0021107 {source="OMIM:614223", source="https://orcid.org/0000-0001-5208-3432"} ! narcolepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013640
name: familial retinal arterial macroaneurysm
subset: gard_rare {source="GARD:12779", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284247"}
subset: ordo_malformation_syndrome {source="Orphanet:284247"}
subset: orphanet_rare {source="Orphanet:284247"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fram" EXACT [Orphanet:284247]
synonym: "RAMSVPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614224]
synonym: "retinal arterial macroaneurysm and supravalvular pulmonic stenosis" EXACT [Orphanet:284247]
synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" RELATED [MONDO:Lexical, OMIM:614224]
xref: GARD:12779 {source="MONDO:GARD"}
xref: MEDGEN:481835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614224 {source="MONDO:equivalentTo", source="Orphanet:284247", source="Orphanet:284247/e"}
xref: Orphanet:284247 {source="OMIM:614224", source="MONDO:equivalentTo"}
xref: SCTID:764452004 {source="MONDO:equivalentTo"}
xref: UMLS:C3280205 {source="MEDGEN:481835", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002311 {source="https://orcid.org/0000-0002-4142-7153"} ! retinal vascular disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5476 {source="MONDO:mim2gene_medgen"} ! IGFBP7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013641
name: Warburg micro syndrome 2
def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15780", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "micro syndrome 2" EXACT [DOID:0110717, OMIM:614225]
synonym: "RAB3GAP2 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WARBM2" EXACT ABBREVIATION [DOID:0110717, MONDO:Lexical, OMIM:614225]
synonym: "WARBURG micro syndrome 2" RELATED [OMIM:614225]
synonym: "Warburg micro syndrome 2" EXACT [MONDO:Lexical, OMIM:614225]
synonym: "Warburg micro syndrome caused by mutation in RAB3GAP2" EXACT [MONDO:design_pattern]
synonym: "Warburg micro syndrome type 2" EXACT [DOID:0110717, MONDORULE:1, OMIM:614225]
xref: DOID:0110717 {source="MONDO:equivalentTo"}
xref: GARD:15780 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="DOID:0110717"}
xref: MEDGEN:481844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614225 {source="MONDO:equivalentTo", source="DOID:0110717"}
xref: Orphanet:2510 {source="OMIM:614225"}
xref: UMLS:C3280214 {source="MEDGEN:481844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016649 {source="DC-OMIM:614225", source="DOID:0110717", source="MONDO:Redundant", source="OMIM:614225"} ! Warburg micro syndrome
intersection_of: MONDO:0016649 ! Warburg micro syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17168 ! RAB3GAP2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614225"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17168 {source="MONDO:mim2gene_medgen"} ! RAB3GAP2

[Term]
id: MONDO:0013642
name: holoprosencephaly 11
def: "Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDON holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "holoprosencephaly 11" EXACT [MONDO:Lexical, OMIM:614226]
synonym: "holoprosencephaly caused by mutation in CDON" EXACT [MONDO:design_pattern]
synonym: "holoprosencephaly type 11" EXACT [DOID:0110877, MONDORULE:2, OMIM:614226]
synonym: "HPE11" EXACT ABBREVIATION [DOID:0110877, MONDO:Lexical, OMIM:614226]
xref: DOID:0110877 {source="MONDO:equivalentTo"}
xref: MEDGEN:481845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614226 {source="DOID:0110877", source="MONDO:equivalentTo"}
xref: Orphanet:2162 {source="OMIM:614226"}
xref: UMLS:C3280215 {source="MEDGEN:481845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016296 {source="DC-OMIM:614226", source="DOID:0110877", source="MONDO:Redundant", source="OMIM:614226"} ! holoprosencephaly
intersection_of: MONDO:0016296 ! holoprosencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17104 ! CDON
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17104 {source="MONDO:mim2gene_medgen"} ! CDON

[Term]
id: MONDO:0013643
name: hyperuricemic nephropathy, familial juvenile type 3
synonym: "HNFJ3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614227]
synonym: "hyperuricemic nephropathy, familial juvenile, 3" RELATED [MONDO:Lexical, OMIM:614227]
xref: MEDGEN:481846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614227 {source="MONDO:equivalentTo"}
xref: UMLS:C3280216 {source="MEDGEN:481846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000608 {source="DC-OMIM:614227", source="OMIM:614227"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013644
name: Charcot-Marie-Tooth disease axonal type 2O
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12434", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284232"}
subset: orphanet_rare {source="Orphanet:284232"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175]
synonym: "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2O" RELATED [GARD:0012434]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O" RELATED [OMIM:614228]
synonym: "Charcot-Marie-Tooth disease, axonal, type 20" EXACT [OMIM:614228, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2O" RELATED [MONDO:Lexical, OMIM:614228]
synonym: "Charcot-Marie-Tooth neuropathy axonal type 2O" EXACT [DOID:0110175]
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2O" RELATED [OMIM:614228]
synonym: "CMT2O" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614228, Orphanet:284232]
synonym: "DYNC1H1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110175 {source="MONDO:equivalentTo"}
xref: GARD:12434 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:284232/attributed", source="Orphanet:284232/ntbt", source="Orphanet:284232", source="DOID:0110175"}
xref: MEDGEN:481850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614228 {source="Orphanet:284232", source="MONDO:equivalentTo", source="Orphanet:284232/e", source="DOID:0110175"}
xref: Orphanet:284232 {source="MONDO:equivalentTo", source="OMIM:614228", source="DOID:0110175"}
xref: UMLS:C3280220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481850"}
is_a: MONDO:0015626 {source="DOID:0110175/inferred", source="MONDO:Redundant", source="OMIM:614228", source="Orphanet:284232/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110175", source="Orphanet:284232"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:1040031 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/40063/"} ! dyneinopathy
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 ! DYNC1H1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013645
name: autosomal recessive spinocerebellar ataxia 11
def: "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284271"}
subset: orphanet_rare {source="Orphanet:284271"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia-psychomotor retardation syndrome" RELATED [Orphanet:284271]
synonym: "autosomal recessive spinocerebellar ataxia 11" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive spinocerebellar ataxia type 11" EXACT [DOID:0080063, MONDORULE:2, Orphanet:284271]
synonym: "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14" EXACT [MONDO:design_pattern]
synonym: "SCAR11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614229, Orphanet:284271]
synonym: "spinocerebellar ataxia, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:614229]
synonym: "spinocerebellar ataxia, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:614229]
synonym: "SYT14 autosomal recessive syndromic cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080063 {source="MONDO:equivalentTo"}
xref: GARD:17312 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:284271", source="Orphanet:284271/attributed", source="Orphanet:284271/ntbt"}
xref: MEDGEN:1681191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614229 {source="DOID:0080063", source="Orphanet:284271", source="MONDO:equivalentTo", source="Orphanet:284271/e"}
xref: Orphanet:284271 {source="MONDO:equivalentTo", source="OMIM:614229"}
xref: UMLS:C5190803 {source="MEDGEN:1681191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020047 {source="MONDO:Redundant", source="Orphanet:284271"} ! autosomal recessive syndromic cerebellar ataxia
intersection_of: MONDO:0020047 ! autosomal recessive syndromic cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23143 ! SYT14
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23143 {source="MONDO:mim2gene_medgen"} ! SYT14

[Term]
id: MONDO:0013646
name: chromosome 8q21.11 deletion syndrome
def: "Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." [Orphanet:284160]
subset: gard_rare {source="GARD:17310", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284160"}
subset: ordo_malformation_syndrome {source="Orphanet:284160"}
subset: orphanet_rare {source="Orphanet:284160"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "8q21.11 microdeletion syndrome" EXACT [DECIPHER:86, DOID:0060425]
synonym: "chromosome 8q21.11 deletion syndrome" EXACT [OMIM:614230]
synonym: "chromosome 8q21.11 deletion syndrome, isolated cases" EXACT [OMIM:614230, OMIM:genemap2]
synonym: "Del(8)(q21.11)" EXACT [Orphanet:284160]
synonym: "deletion 8q21.11" EXACT [Orphanet:284160]
synonym: "monosomy 8q21.11" EXACT [Orphanet:284160]
xref: DECIPHER:86 {source="MONDO:equivalentTo"}
xref: DOID:0060425 {source="MONDO:equivalentTo"}
xref: GARD:17310 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:284160/attributed", source="Orphanet:284160/ntbt", source="DOID:0060425", source="Orphanet:284160"}
xref: MEDGEN:481861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614230 {source="Orphanet:284160/e", source="MONDO:equivalentTo", source="DOID:0060425", source="Orphanet:284160"}
xref: Orphanet:284160 {source="MONDO:equivalentTo", source="DOID:0060425", source="OMIM:614230"}
xref: SCTID:718615003 {source="MONDO:equivalentTo"}
xref: UMLS:C3280231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481861"}
is_a: MONDO:0000761 {source="DC-OMIM:614230", source="DOID:0060425"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015159 {source="Orphanet:284160"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016907 {source="Orphanet:284160"} ! partial deletion of the long arm of chromosome 8
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8q21.11 ! 8q21.11 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:284160", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6311" xsd:anyURI

[Term]
id: MONDO:0013647
name: obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2940" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0031481

[Term]
id: MONDO:0013648
name: familial progressive hyperpigmentation
def: "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." [Orphanet:79146]
subset: gard_rare {source="GARD:16706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79146"}
subset: orphanet_rare {source="Orphanet:79146"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fph" RELATED [OMIM:614233]
synonym: "FPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614233]
synonym: "hyperpigmentation, familial progressive, 1" RELATED [MONDO:Lexical, OMIM:614233]
synonym: "melanosis diffusa congenita" EXACT [Orphanet:79146]
synonym: "melanosis universalis hereditaria" EXACT [Orphanet:79146]
synonym: "universal melanosis" EXACT [Orphanet:79146]
xref: GARD:16706 {source="MONDO:GARD"}
xref: ICD10CM:L81.4 {source="Orphanet:79146/attributed", source="Orphanet:79146/ntbt", source="Orphanet:79146"}
xref: OMIM:614233 {source="Orphanet:79146/e", source="MONDO:equivalentTo", source="Orphanet:79146"}
xref: Orphanet:79146 {source="OMIM:614233", source="MONDO:equivalentTo"}
xref: SCTID:715630006 {source="MONDO:equivalentTo"}
is_a: MONDO:0019289 {source="Orphanet:79146"} ! hyperpigmentation of the skin

[Term]
id: MONDO:0013649
name: hypotrichosis 9
def: "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3." [DOID:0110706, PMID:20054564]
subset: gard_rare {source="GARD:15781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypotrichosis 9" EXACT [MONDO:Lexical, OMIM:614237]
synonym: "hypotrichosis type 9" EXACT [DOID:0110706, MONDORULE:1]
synonym: "HYPT9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614237]
synonym: "hypt9" EXACT [DOID:0110706]
xref: DOID:0110706 {source="MONDO:equivalentTo"}
xref: GARD:15781 {source="MONDO:GARD"}
xref: MEDGEN:481882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614237 {source="MONDO:equivalentTo", source="DOID:0110706"}
xref: Orphanet:55654 {source="OMIM:614237"}
xref: UMLS:C3280252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481882"}
is_a: MONDO:0003037 {source="DOID:0110706", source="MONDO:Redundant", source="OMIM:614237"} ! hypotrichosis
is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex

[Term]
id: MONDO:0013650
name: hypotrichosis 10
def: "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3." [DOID:0110707, PMID:20544222]
subset: gard_rare {source="GARD:15782", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypotrichosis 10" EXACT [MONDO:Lexical, OMIM:614238]
synonym: "hypotrichosis type 10" EXACT [DOID:0110707, MONDORULE:2]
synonym: "HYPT10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614238]
synonym: "hypt10" EXACT [DOID:0110707]
xref: DOID:0110707 {source="MONDO:equivalentTo"}
xref: GARD:15782 {source="MONDO:GARD"}
xref: MEDGEN:481883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614238 {source="MONDO:equivalentTo", source="DOID:0110707"}
xref: Orphanet:55654 {source="OMIM:614238"}
xref: UMLS:C3280253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481883"}
is_a: MONDO:0003037 {source="DOID:0110707", source="MONDO:Redundant", source="OMIM:614238"} ! hypotrichosis
is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex

[Term]
id: MONDO:0013651
name: intellectual disability, autosomal recessive 18
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic intellectual disability-18" RELATED [GARD:0012233]
synonym: "autosomal recessive nonsyndromic mental retardation-18" RELATED DEPRECATED [GARD:0012233]
synonym: "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" EXACT [OMIM:614249, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 18" EXACT [MONDO:Lexical, OMIM:614249]
synonym: "intellectual disability, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:614249]
synonym: "MED23" RELATED ABBREVIATION [GARD:0012233]
synonym: "MED23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 18" RELATED DEPRECATED [MONDO:Lexical, OMIM:614249]
synonym: "mental retardation, autosomal recessive type 18" EXACT DEPRECATED [MONDORULE:2, OMIM:614249]
synonym: "MRT18" RELATED DEPRECATED [MONDO:Lexical, OMIM:614249]
xref: DOID:0081190 {source="MONDO:equivalentTo"}
xref: GARD:22552 {source="MONDO:GARD"}
xref: MEDGEN:481895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614249 {source="MONDO:equivalentTo"}
xref: UMLS:C3280265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481895"}
is_a: MONDO:0019502 {source="DC-OMIM:614249", source="MONDO:Redundant", source="OMIM:614249"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2372 ! MED23
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2372 {source="MONDO:mim2gene_medgen"} ! MED23
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013652
name: narcolepsy 7
def: "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:15783", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MOG narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "narcolepsy 7" EXACT [MONDO:Lexical, OMIM:614250]
synonym: "narcolepsy caused by mutation in MOG" EXACT [MONDO:design_pattern]
synonym: "narcolepsy type 7" EXACT [MONDORULE:1, OMIM:614250]
synonym: "NRCLP7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614250]
xref: GARD:15783 {source="MONDO:GARD"}
xref: MEDGEN:481896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614250 {source="MONDO:equivalentTo"}
xref: Orphanet:2073 {source="OMIM:614250"}
xref: UMLS:C3280266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481896"}
is_a: MONDO:0016158 {source="Orphanet:2073/btnt"} ! narcolepsy-cataplexy syndrome
is_a: MONDO:0100554 {source="MONDO:Redundant", source="OMIM:614250"} ! hereditary narcolepsy
intersection_of: MONDO:0021107 ! narcolepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7197 ! MOG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7197 {source="MONDO:mim2gene_medgen"} ! MOG

[Term]
id: MONDO:0013653
name: Parkinson disease 18, autosomal dominant, susceptibility to
def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "EIF4G1 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary late onset Parkinson disease caused by mutation in EIF4G1" EXACT [MONDO:design_pattern]
synonym: "PARK18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614251]
synonym: "Parkinson disease 18" EXACT [OMIM:614251, OMIM:genemap2]
synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:614251]
synonym: "susceptibility to autosomal dominant Parkinson disease 18" RELATED [OMIM:614251]
xref: MEDGEN:481901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614251 {source="MONDO:equivalentTo"}
xref: Orphanet:411602 {source="OMIM:614251"}
xref: UMLS:C3280271 {source="MEDGEN:481901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:614251"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3296 ! EIF4G1
intersection_of: predisposes_towards MONDO:0005180 ! Parkinson disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3296 {source="MONDO:mim2gene_medgen"} ! EIF4G1
relationship: predisposes_towards MONDO:0008199 {source="MONDO:Redundant", source="Orphanet:411602/btnt"} ! late-onset Parkinson disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013654
name: aneurysm, intracranial berry, 11
subset: gard_rare {source="GARD:18329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, intracranial BERRY, 11" RELATED [MONDO:Lexical, OMIM:614252]
synonym: "ANIB11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614252]
xref: DOID:0080974 {source="MONDO:equivalentTo"}
xref: GARD:18329 {source="MONDO:GARD"}
xref: MEDGEN:481905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614252 {source="MONDO:equivalentTo"}
xref: Orphanet:231160 {source="OMIM:614252"}
xref: UMLS:C3280275 {source="MONDO:equivalentTo", source="MEDGEN:481905", source="MONDO:MEDGEN"}
is_a: MONDO:0016483 {source="DC-OMIM:614252", source="OMIM:614252"} ! intracranial berry aneurysm

[Term]
id: MONDO:0013655
name: intellectual disability, autosomal dominant 8
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13686", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 8" EXACT [DOID:0070038]
synonym: "autosomal dominant mental retardation 8" EXACT DEPRECATED [DOID:0070038]
synonym: "autosomal dominant non-syndromic intellectual disability 8" RELATED [DOID:0070038]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" EXACT [MONDO:design_pattern]
synonym: "GRIN1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 8" EXACT [MONDO:Lexical, OMIM:614254]
synonym: "intellectual disability, autosomal dominant 8, formerly" RELATED [OMIM:614254]
synonym: "intellectual disability, autosomal dominant type 8" EXACT [MONDORULE:1, OMIM:614254]
synonym: "mental retardation, autosomal dominant 8" RELATED DEPRECATED [MONDO:Lexical, OMIM:614254]
synonym: "mental retardation, autosomal dominant 8, formerly" RELATED DEPRECATED [OMIM:614254]
synonym: "mental retardation, autosomal dominant type 8" EXACT DEPRECATED [MONDORULE:1, OMIM:614254]
synonym: "MRD8" EXACT ABBREVIATION [DOID:0070038, MONDO:Lexical, OMIM:614254]
synonym: "NDHMSD" RELATED ABBREVIATION [OMIM:614254]
synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" RELATED [OMIM:614254]
xref: DOID:0070038 {source="MONDO:equivalentTo"}
xref: GARD:13686 {source="MONDO:GARD"}
xref: MEDGEN:481912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614254 {source="DOID:0070038", source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="OMIM:614254"}
xref: UMLS:C3280282 {source="MEDGEN:481912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614254"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4584 ! GRIN1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4584 {source="MONDO:mim2gene_medgen"} ! GRIN1

[Term]
id: MONDO:0013656
name: intellectual disability, autosomal dominant 9
def: "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." [NCIT:C133742]
subset: gard_rare {source="GARD:16459", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:662367"}
subset: orphanet_rare {source="Orphanet:662367"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 9" EXACT [DOID:0070039]
synonym: "autosomal dominant mental retardation 9" EXACT DEPRECATED [DOID:0070039]
synonym: "autosomal dominant non-syndromic intellectual disability 9" RELATED [DOID:0070039]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal dominant 9" EXACT [MONDO:Lexical, OMIM:614255]
synonym: "intellectual disability, autosomal dominant type 9" EXACT [MONDORULE:1, OMIM:614255]
synonym: "KIF1A autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal dominant 9" RELATED DEPRECATED [MONDO:Lexical, OMIM:614255]
synonym: "mental retardation, autosomal dominant type 9" EXACT DEPRECATED [MONDORULE:1, OMIM:614255]
synonym: "MRD9" EXACT ABBREVIATION [DOID:0070039, MONDO:Lexical, OMIM:614255]
synonym: "NESCAV syndrome" EXACT [OMIM:614255, OMIM:genemap2]
xref: DOID:0070039 {source="MONDO:equivalentTo"}
xref: GARD:16459 {source="MONDO:GARD"}
xref: MEDGEN:1714250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C133742 {source="MONDO:equivalentTo"}
xref: OMIM:614255 {source="MONDO:equivalentTo", source="DOID:0070039"}
xref: Orphanet:178469 {source="OMIM:614255"}
xref: Orphanet:662367 {source="MONDO:equivalentTo"}
xref: UMLS:C5393830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714250"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614255"} ! intellectual disability, autosomal dominant
is_a: MONDO:0700055 {source="https://orcid.org/0000-0002-8134-1207"} ! KIF1A related neurological disorder
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 ! KIF1A
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/888 {source="MONDO:mim2gene_medgen"} ! KIF1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013657
name: intellectual disability, autosomal dominant 10
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16460", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 10" EXACT [DOID:0070040]
synonym: "autosomal dominant mental retardation 10" EXACT DEPRECATED [DOID:0070040]
synonym: "autosomal dominant non-syndromic intellectual disability 10" RELATED [DOID:0070040]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2" EXACT [MONDO:design_pattern]
synonym: "CACNG2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 10" EXACT [MONDO:Lexical, OMIM:614256]
synonym: "intellectual disability, autosomal dominant type 10" EXACT [MONDORULE:2, OMIM:614256]
synonym: "mental retardation, autosomal dominant 10" RELATED DEPRECATED [MONDO:Lexical, OMIM:614256]
synonym: "mental retardation, autosomal dominant type 10" EXACT DEPRECATED [MONDORULE:2, OMIM:614256]
synonym: "MRD10" EXACT ABBREVIATION [DOID:0070040, MONDO:Lexical, OMIM:614256]
xref: DOID:0070040 {source="MONDO:equivalentTo"}
xref: GARD:16460 {source="MONDO:GARD"}
xref: MEDGEN:481914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614256 {source="MONDO:equivalentTo", source="DOID:0070040"}
xref: UMLS:C3280284 {source="MEDGEN:481914", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614256"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1406 ! CACNG2
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1406 {source="MONDO:mim2gene_medgen"} ! CACNG2

[Term]
id: MONDO:0013658
name: intellectual disability, autosomal dominant 11
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16461", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 11" EXACT [DOID:0070041]
synonym: "autosomal dominant mental retardation 11" EXACT DEPRECATED [DOID:0070041]
synonym: "autosomal dominant non-syndromic intellectual disability 11" RELATED [DOID:0070041]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1" EXACT [MONDO:design_pattern]
synonym: "EPB41L1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal dominant 11" EXACT [OMIM:614257, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 11" EXACT [MONDO:Lexical, OMIM:614257]
synonym: "intellectual disability, autosomal dominant type 11" EXACT [MONDORULE:2, OMIM:614257]
synonym: "mental retardation, autosomal dominant 11" RELATED DEPRECATED [MONDO:Lexical, OMIM:614257]
synonym: "mental retardation, autosomal dominant type 11" EXACT DEPRECATED [MONDORULE:2, OMIM:614257]
synonym: "MRD11" EXACT ABBREVIATION [DOID:0070041, MONDO:Lexical, OMIM:614257]
xref: DOID:0070041 {source="MONDO:equivalentTo"}
xref: GARD:16461 {source="MONDO:GARD"}
xref: MEDGEN:481915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614257 {source="MONDO:equivalentTo", source="DOID:0070041"}
xref: UMLS:C3280285 {source="MEDGEN:481915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614257"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3378 ! EPB41L1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3378 {source="MONDO:mim2gene_medgen"} ! EPB41L1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013659
name: microcephaly-capillary malformation syndrome
subset: gard_rare {source="GARD:17354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294016"}
subset: ordo_malformation_syndrome {source="Orphanet:294016"}
subset: orphanet_rare {source="Orphanet:294016"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MIC-CAP syndrome" EXACT [Orphanet:294016]
synonym: "MIC-CM syndrome" EXACT [Orphanet:294016]
synonym: "MICCAP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614261]
synonym: "microcephaly-capillary malformation syndrome" EXACT [MONDO:Lexical, OMIM:614261]
synonym: "microcephaly-cutaneous capillary malformation syndrome" EXACT [Orphanet:294016]
xref: GARD:17354 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:294016/attributed", source="Orphanet:294016/ntbt", source="Orphanet:294016"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:481926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614261 {source="Orphanet:294016/e", source="MONDO:equivalentTo", source="Orphanet:294016"}
xref: Orphanet:294016 {source="MONDO:equivalentTo", source="OMIM:614261"}
xref: SCTID:703369003 {source="MONDO:equivalentTo"}
xref: UMLS:C3280296 {source="MEDGEN:481926", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:294016"} ! syndromic disease
relationship: disease_has_feature MONDO:0016231 ! capillary malformation
relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:294016", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete obsolete rare capillary malformation with associated anomalies
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16950 {source="MONDO:mim2gene_medgen"} ! STAMBP

[Term]
id: MONDO:0013660
name: arthrogryposis, Perthes disease, and upward gaze palsy
subset: otar {source="MONDO:OTAR"}
synonym: "APUG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614262]
synonym: "arthrogryposis, Perthes disease, and upward gaze palsy" EXACT [MONDO:Lexical, OMIM:614262]
xref: MEDGEN:481939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614262 {source="MONDO:equivalentTo"}
xref: UMLS:C3280309 {source="MEDGEN:481939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18591 {source="MONDO:mim2gene_medgen"} ! NEK9

[Term]
id: MONDO:0013661
name: combined malonic and methylmalonic acidemia
def: "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." [Orphanet:289504]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289504"}
subset: orphanet_rare {source="Orphanet:289504"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMAMMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614265, Orphanet:289504]
synonym: "combined malonic and methylmalonic acidemia" EXACT CLINGEN_LABEL []
synonym: "combined malonic and methylmalonic aciduria" EXACT [MONDO:Lexical, OMIM:614265, Orphanet:289504]
xref: DOID:0111263 {source="MONDO:equivalentTo"}
xref: GARD:10818 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:289504", source="Orphanet:289504/attributed", source="Orphanet:289504/ntbt"}
xref: MEDGEN:481944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580002 {source="MONDO:equivalentTo"}
xref: OMIM:614265 {source="MONDO:equivalentTo", source="Orphanet:289504", source="Orphanet:289504/e"}
xref: Orphanet:289504 {source="MONDO:equivalentTo", source="OMIM:614265"}
xref: SCTID:702365002 {source="MONDO:equivalentTo"}
xref: UMLS:C3280314 {source="MEDGEN:481944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002012 {source="https://orcid.org/0000-0002-6601-2165"} ! methylmalonic acidemia
is_a: MONDO:0019215 {source="Orphanet:289504"} ! classic organic aciduria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27288 {source="MONDO:mim2gene_medgen"} ! ACSF3

[Term]
id: MONDO:0013662
name: Barrett esophagus
def: "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" [NCIT:C2891]
subset: otar {source="MONDO:OTAR"}
synonym: "adenocarcinoma of esophagus" RELATED [OMIM:614266]
synonym: "adenocarcinoma of oesophagus" RELATED OMO:0003005 []
synonym: "Barrett esophagus" EXACT [DOID:9206, MTH:NOCODE, NCIT:C2891, OMIM:614266]
synonym: "Barrett esophagus/esophageal adenocarcinoma" EXACT [OMIM:614266, OMIM:genemap2]
synonym: "Barrett metaplasia" RELATED [OMIM:614266]
synonym: "Barrett's esophagus" EXACT [DOID:9206, NCIT:C2891]
synonym: "Barrett's esophagus with esophagitis" EXACT [DOID:9206]
synonym: "Barrett's oesophagus" EXACT OMO:0003005 []
synonym: "Barrett's oesophagus with esophagitis" EXACT OMO:0003005 []
synonym: "Barrett's ulcer of esophagus" EXACT [DOID:9206]
synonym: "Barrett's ulcer of oesophagus" EXACT OMO:0003005 []
synonym: "Barretts syndrome" EXACT [DOID:9206]
synonym: "BE" EXACT ABBREVIATION [NCIT:C2891]
synonym: "cello" EXACT [NCIT:C2891]
synonym: "CLE" EXACT ABBREVIATION [DOID:9206, NCIT:C2891]
synonym: "columnar epithelial-lined Lower esophagus" EXACT [NCIT:C2891]
synonym: "columnar epithelial-lined Lower oesophagus" EXACT OMO:0003005 []
synonym: "columnar-lined esophagus" EXACT [NCIT:C2891]
synonym: "columnar-lined oesophagus" EXACT OMO:0003005 []
synonym: "ulcerative esophagitis" EXACT [DOID:9206]
xref: DOID:9206 {source="MONDO:equivalentTo", source="EFO:0000280"}
xref: EFO:0000280 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K22.7 {source="DOID:9206"}
xref: ICD10CM:K22.70 {source="DOID:9206"}
xref: ICD9:530.85 {source="DOID:9206", source="EFO:0000280"}
xref: MEDGEN:2551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001471 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"}
xref: NCIT:C2891 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"}
xref: OMIM:614266 {source="DOID:9206", source="MONDO:equivalentTo", source="EFO:0000280"}
xref: Orphanet:1232 {source="OMIM:614266", source="MONDO:equivalentObsolete"}
xref: Orphanet:99976 {source="OMIM:614266", source="MONDO:relatedTo"}
xref: SCTID:155679007 {source="DOID:9206"}
xref: SCTID:196603007 {source="DOID:9206"}
xref: SCTID:196609006 {source="DOID:9206", source="MONDO:equivalentTo"}
xref: SCTID:235597001 {source="DOID:9206"}
xref: SCTID:302914006 {source="DOID:9206", source="EFO:0000280"}
xref: SCTID:76355008 {source="DOID:9206"}
xref: UMLS:C0004763 {source="MEDGEN:2551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="DOID:9206", source="MESH:D001471", source="NCIT:C2891/inferred"} ! esophageal disorder
relationship: disease_has_location UBERON:0001043 {source="EFO:0000784", source="NCIT:C2891"} ! esophagus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013663
name: platelet-activating factor acetylhydrolase deficiency
synonym: "PAFAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614278]
synonym: "platelet-activating factor acetylhydrolase deficiency" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:614278]
synonym: "platelet-activating factor acetylhydrolase deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0040175 {source="MONDO:otherHierarchy"}
xref: MEDGEN:481945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566640 {source="MONDO:equivalentTo"}
xref: OMIM:614278 {source="MONDO:equivalentTo"}
xref: UMLS:C3280315 {source="MEDGEN:481945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9040 {source="MONDO:mim2gene_medgen"} ! PLA2G7
property_value: IAO:0000589 "platelet-activating factor acetylhydrolase deficiency (disease)" xsd:string

[Term]
id: MONDO:0013664
name: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:17752", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443087"}
subset: orphanet_rare {source="Orphanet:443087"}
subset: rare
synonym: "46,XY sex reversal 8" RELATED [MONDO:Lexical, OMIM:614279]
synonym: "46,XY sex reversal type 8" EXACT [MONDORULE:1, OMIM:614279]
synonym: "46XY sex reversal 8" EXACT [OMIM:614279, OMIM:genemap2]
synonym: "46XY sex reversal 8, modifier of" EXACT [OMIM:614279, OMIM:genemap2]
synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" RELATED [OMIM:614279]
synonym: "SRXY8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614279]
xref: DOID:0111773 {source="MONDO:equivalentTo"}
xref: GARD:17752 {source="MONDO:GARD"}
xref: ICD10CM:E29.1 {source="Orphanet:443087/attributed", source="Orphanet:443087/ntbt", source="Orphanet:443087"}
xref: MEDGEN:333416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564109 {source="MONDO:equivalentTo"}
xref: OMIM:614279 {source="Orphanet:443087/e", source="MONDO:equivalentTo", source="Orphanet:443087"}
xref: Orphanet:443087 {source="MONDO:equivalentTo"}
xref: Orphanet:90796 {source="OMIM:614279"}
xref: SCTID:49013001 {source="MONDO:equivalentTo"}
xref: UMLS:C1839840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333416"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0010765 {source="DC-OMIM:614279", source="MESH:C564109", source="OMIM:614279"} ! 46,XY complete gonadal dysgenesis
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI

[Term]
id: MONDO:0013665
name: epilepsy, juvenile myoclonic, susceptibility to, 9
subset: predisposition
synonym: "EJM9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614280]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:614280]
xref: DOID:0111328 {source="MONDO:equivalentTo"}
xref: MEDGEN:481962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614280 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="OMIM:614280"}
xref: UMLS:C3280332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481962"}
is_a: MONDO:0020573 {source="OMIM:614280"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0009696 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile myoclonic epilepsy
relationship: predisposes_towards MONDO:0009696 {source="OMIM:614280"} ! juvenile myoclonic epilepsy

[Term]
id: MONDO:0013666
name: Stickler syndrome, type 5
def: "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A2" EXACT [MONDO:design_pattern]
synonym: "COL9A2 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STICKLER syndrome, type V" RELATED [MONDO:Lexical, OMIM:614284]
synonym: "STL5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614284]
xref: GARD:18359 {source="MONDO:GARD"}
xref: MEDGEN:481972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614284 {source="MONDO:equivalentTo"}
xref: Orphanet:250984 {source="OMIM:614284"}
xref: Orphanet:828 {source="OMIM:614284"}
xref: UMLS:C3280342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481972"}
is_a: MONDO:0019354 {source="MONDO:Redundant", source="OMIM:614284"} ! Stickler syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2218 {source="MONDO:mim2gene_medgen"} ! COL9A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013667
name: obsolete myelodysplastic syndrome
is_obsolete: true
replaced_by: MONDO:0018881

[Term]
id: MONDO:0013668
name: tetrasomy 18p
def: "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." [Orphanet:3307]
subset: gard_rare {source="GARD:35", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3307"}
subset: ordo_malformation_syndrome {source="Orphanet:3307"}
subset: orphanet_rare {source="Orphanet:3307"}
subset: rare
synonym: "chromosome 18p tetrasomy" RELATED [GARD:0000035]
synonym: "Isochromosome 18p" EXACT [GARD:0000035, Orphanet:3307]
synonym: "Isochromosome 18P syndrome" RELATED [OMIM:614290]
synonym: "tetrasomy 18p" EXACT [GARD:0000035, OMIM:614290]
synonym: "tetrasomy chromosome 18p" RELATED [GARD:0000035]
synonym: "tetrasomy type 18P" EXACT [MONDORULE:4, OMIM:614290]
synonym: "tetrasomy type 18p" EXACT [MONDORULE:4, Orphanet:3307]
xref: GARD:35 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:3307", source="Orphanet:3307/attributed", source="Orphanet:3307/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:167079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538306 {source="MONDO:equivalentTo"}
xref: OMIM:614290 {source="MONDO:equivalentTo", source="Orphanet:3307", source="Orphanet:3307/e"}
xref: Orphanet:3307 {source="GARD:0000035", source="MONDO:equivalentTo", source="OMIM:614290"}
xref: SCTID:698849002 {source="MONDO:equivalentTo"}
xref: UMLS:C0795868 {source="MEDGEN:167079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:3307/inferred"} ! hereditary disease
is_a: MONDO:0016951 {source="Orphanet:3307"} ! partial trisomy/tetrasomy of the short arm of chromosome 18
relationship: disease_arises_from_structure CHR:9606-chr18p {source="https://orcid.org/0000-0002-4142-7153"} ! 18p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0013669
name: breast-ovarian cancer, familial, susceptibility to, 4
def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "breast-ovarian cancer, familial, susceptibility to, 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614291]
synonym: "breast-ovarian cancer, familial, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614291]
synonym: "BROVCA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614291]
synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51D" EXACT [MONDO:design_pattern]
synonym: "RAD51D hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to familial breast-ovarian cancer 4" RELATED [OMIM:614291]
xref: MEDGEN:481975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614291 {source="MONDO:equivalentTo"}
xref: Orphanet:145 {source="OMIM:614291"}
xref: UMLS:C3280345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481975"}
is_a: MONDO:0100526 {source="OMIM:614291"} ! breast-ovarian cancer, familial, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9823 ! RAD51D
intersection_of: predisposes_towards MONDO:0003582 ! hereditary breast ovarian cancer syndrome
relationship: excluded_subClassOf MONDO:0003582 {source="OMIM:614291", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary breast ovarian cancer syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9823 {source="MONDO:mim2gene_medgen"} ! RAD51D

[Term]
id: MONDO:0013670
name: myopia, high, with cataract and vitreoretinal degeneration
subset: gard_rare {source="GARD:18197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614292]
synonym: "myopia, high, with cataract and vitreoretinal degeneration" EXACT [MONDO:Lexical, OMIM:614292]
xref: GARD:18197 {source="MONDO:GARD"}
xref: MEDGEN:481976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614292 {source="MONDO:equivalentTo"}
xref: Orphanet:98619 {source="OMIM:614292"}
xref: UMLS:C3280346 {source="MEDGEN:481976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="Orphanet:98619/btnt"} ! myopia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020207"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19317 {source="MONDO:mim2gene_medgen"} ! P3H2

[Term]
id: MONDO:0013671
name: hydatidiform mole, recurrent, 2
def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18366", source="MONDO:GARD"}
subset: rare
synonym: "complete hydatidiform mole caused by mutation in KHDC3L" EXACT [MONDO:design_pattern]
synonym: "hydatidiform Mole, complete" RELATED [OMIM:614293]
synonym: "hydatidiform MOLE, recurrent, 2" RELATED [OMIM:614293]
synonym: "hydatidiform mole, recurrent, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614293]
synonym: "hydatidiform Mole, recurrent, type 2" EXACT [MONDORULE:1, OMIM:614293]
synonym: "HYDM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614293]
synonym: "KHDC3L complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18366 {source="MONDO:GARD"}
xref: MEDGEN:481982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614293 {source="MONDO:equivalentTo"}
xref: Orphanet:254688 {source="OMIM:614293"}
xref: Orphanet:99927 {source="OMIM:614293"}
xref: UMLS:C3280352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481982"}
is_a: MONDO:0016785 {source="MONDO:Redundant", source="Orphanet:254688/btnt"} ! complete hydatidiform mole
is_a: MONDO:0018944 {source="DC-OMIM:614293"} ! gestational trophoblastic neoplasm
intersection_of: MONDO:0016785 ! complete hydatidiform mole
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33699 ! KHDC3L
relationship: excluded_subClassOf MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33699 {source="MONDO:mim2gene_medgen"} ! KHDC3L

[Term]
id: MONDO:0013672
name: chromosome 15q25 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 15q25 deletion syndrome" EXACT [OMIM:614294]
xref: DOID:0060396 {source="MONDO:equivalentTo"}
xref: MEDGEN:481985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614294 {source="DOID:0060396", source="MONDO:equivalentTo"}
xref: UMLS:C3280355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481985"}
is_a: MONDO:0000761 {source="DC-OMIM:614294", source="DOID:0060396"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016913 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 15
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr15q25 ! 15q25 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0013673
name: Wolfram-like syndrome
def: "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." [Orphanet:411590]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411590"}
subset: orphanet_rare {source="Orphanet:411590"}
subset: rare
synonym: "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation" RELATED [OMIM:614296]
synonym: "WFSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614296]
synonym: "Wolfram-like syndrome" EXACT CLINGEN_LABEL []
synonym: "Wolfram-like syndrome, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614296]
xref: DOID:0080584 {source="MONDO:equivalentTo"}
xref: GARD:17683 {source="MONDO:GARD"}
xref: ICD10CM:E13.8 {source="Orphanet:411590/attributed", source="Orphanet:411590/ntbt", source="Orphanet:411590"}
xref: MEDGEN:481988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565631 {source="MONDO:equivalentTo"}
xref: OMIM:614296 {source="Orphanet:411590/e", source="MONDO:equivalentTo", source="Orphanet:411590"}
xref: Orphanet:411590 {source="MONDO:equivalentTo", source="OMIM:614296"}
xref: SCTID:734022008 {source="MONDO:equivalentTo"}
xref: UMLS:C3280358 {source="MEDGEN:481988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
relationship: disease_has_feature MONDO:0005147 ! type 1 diabetes mellitus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12762 {source="MONDO:mim2gene_medgen"} ! WFS1

[Term]
id: MONDO:0013674
name: neurodegeneration with brain iron accumulation 4
def: "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." [Orphanet:289560]
subset: gard_rare {source="GARD:12569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289560"}
subset: orphanet_rare {source="Orphanet:289560"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C19orf12 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial membrane protein-associated neurodegeneration" RELATED [Orphanet:289560]
synonym: "mitochondrial Protein-associated neurodegeneration" EXACT [DOID:0110738, OMIM:614298]
synonym: "MPAN" EXACT ABBREVIATION [DOID:0110738, Orphanet:289560]
synonym: "NBIA due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560]
synonym: "NBIA4" EXACT ABBREVIATION [DOID:0110738, MONDO:Lexical, OMIM:614298, Orphanet:289560]
synonym: "neurodegeneration with brain iron accumulation 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614298]
synonym: "neurodegeneration with brain iron accumulation caused by mutation in C19orf12" EXACT [MONDO:design_pattern]
synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560]
synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [DOID:0110738, MONDORULE:1, OMIM:614298, Orphanet:289560]
xref: DOID:0110738 {source="MONDO:equivalentTo"}
xref: GARD:12569 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="DOID:0110738", source="Orphanet:289560/attributed", source="Orphanet:289560/ntbt", source="Orphanet:289560"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:482001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200540 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C175707 {source="MONDO:equivalentTo"}
xref: OMIM:614298 {source="Orphanet:289560/e", source="DOID:0110738", source="MONDO:equivalentTo", source="Orphanet:289560"}
xref: Orphanet:289560 {source="DOID:0110738", source="MONDO:equivalentTo", source="OMIM:614298"}
xref: SCTID:709415008 {source="MONDO:equivalentTo"}
xref: UMLS:C3280371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482001"}
is_a: MONDO:0018307 {source="DC-OMIM:614298", source="DOID:0110738", source="MONDO:Redundant", source="OMIM:614298", source="Orphanet:289560"} ! neurodegeneration with brain iron accumulation
intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25443 ! C19orf12
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25443 {source="MONDO:mim2gene_medgen"} ! C19orf12

[Term]
id: MONDO:0013675
name: multiple mitochondrial dysfunctions syndrome 2
def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401874"}
subset: orphanet_rare {source="Orphanet:401874"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BOLA3 deficiency" EXACT [Orphanet:401874]
synonym: "BOLA3 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3" EXACT [MONDO:design_pattern]
synonym: "MMDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614299]
synonym: "multiple mitochondrial dysfunctions syndrome 2" EXACT [MONDO:Lexical, OMIM:614299]
synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" RELATED [OMIM:614299]
synonym: "multiple mitochondrial dysfunctions syndrome type 2" EXACT [DOID:0080134, MONDORULE:1, OMIM:614299]
xref: DOID:0080134 {source="MONDO:equivalentTo"}
xref: GARD:17662 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:401874/attributed", source="Orphanet:401874/ntbt", source="Orphanet:401874"}
xref: MEDGEN:482008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614299 {source="Orphanet:401874", source="DOID:0080134", source="MONDO:equivalentTo", source="Orphanet:401874/e"}
xref: Orphanet:289573 {source="OMIM:614299"}
xref: Orphanet:401874 {source="OMIM:614299", source="MONDO:equivalentTo"}
xref: UMLS:C3280378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482008"}
is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:614299", source="Orphanet:401874"} ! fatal multiple mitochondrial dysfunctions syndrome
intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24415 ! BOLA3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24415 {source="MONDO:mim2gene_medgen"} ! BOLA3

[Term]
id: MONDO:0013676
name: obsolete hypermethioninemia due to adenosine kinase deficiency
comment: Replaced this term with a new term with a new label.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2587" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100255

[Term]
id: MONDO:0013677
name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18208", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43" EXACT [MONDO:design_pattern]
synonym: "EDMD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614302]
synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:614302, OMIM:genemap2]
synonym: "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant" RELATED [OMIM:614302]
synonym: "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614302]
synonym: "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070252 {source="MONDO:equivalentTo"}
xref: GARD:18208 {source="MONDO:GARD"}
xref: MEDGEN:765974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614302 {source="MONDO:equivalentTo"}
xref: Orphanet:261 {source="OMIM:614302"}
xref: Orphanet:98853 {source="OMIM:614302"}
xref: UMLS:C3553060 {source="MEDGEN:765974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016830 {source="MONDO:Redundant", source="OMIM:614302"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0020336 {source="MONDO:Redundant", source="Orphanet:98853/btnt"} ! autosomal dominant Emery-Dreifuss muscular dystrophy
intersection_of: MONDO:0020336 ! autosomal dominant Emery-Dreifuss muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28472 ! TMEM43
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28472 {source="MONDO:mim2gene_medgen"} ! TMEM43
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013678
name: EDICT syndrome
def: "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia." [Orphanet:293936]
subset: gard_rare {source="GARD:17349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293936"}
subset: orphanet_rare {source="Orphanet:293936"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant keratoconus with early-onset anterior polar cataracts" EXACT [Orphanet:293936]
synonym: "EDICT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614303]
synonym: "EDICT syndrome" EXACT [MONDO:Lexical, OMIM:614303]
synonym: "endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome" RELATED [OMIM:614303]
synonym: "endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome" EXACT [Orphanet:293936]
synonym: "familial keratoconus with cataract" EXACT [Orphanet:293936]
synonym: "keratoconus with cataract" RELATED [OMIM:614303]
synonym: "keratoconus, familial, with early-onset anterior polar cataract" RELATED [OMIM:614303]
synonym: "KTCNCT" EXACT ABBREVIATION [Orphanet:293936]
xref: GARD:17349 {source="MONDO:GARD"}
xref: MEDGEN:482022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614303 {source="Orphanet:293936", source="MONDO:equivalentTo", source="Orphanet:293936/e"}
xref: Orphanet:293936 {source="OMIM:614303", source="MONDO:equivalentTo"}
xref: SCTID:722439009 {source="MONDO:equivalentTo"}
xref: UMLS:C3280392 {source="MEDGEN:482022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31555 {source="MONDO:mim2gene_medgen"} ! MIR184
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013679
name: sclerosteosis 2
def: "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:15786", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LRP4 sclerosteosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sclerosteosis 2" EXACT [MONDO:Lexical, OMIM:614305]
synonym: "sclerosteosis caused by mutation in LRP4" EXACT [MONDO:design_pattern]
synonym: "sclerosteosis type 2" EXACT [DOID:0060757, MONDORULE:1, OMIM:614305]
synonym: "SOST2" EXACT ABBREVIATION [DOID:0060757, MONDO:Lexical, OMIM:614305]
xref: DOID:0060757 {source="MONDO:equivalentTo"}
xref: GARD:15786 {source="MONDO:GARD"}
xref: ICD10CM:M85.2 {source="DOID:0060757"}
xref: MEDGEN:482032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614305 {source="MONDO:equivalentTo", source="DOID:0060757"}
xref: Orphanet:3152 {source="OMIM:614305", source="DOID:0060757"}
xref: UMLS:C3280402 {source="MONDO:equivalentTo", source="MEDGEN:482032", source="MONDO:MEDGEN"}
is_a: MONDO:0017838 {source="DC-OMIM:614305", source="DOID:0060757", source="MONDO:Redundant", source="OMIM:614305"} ! sclerosteosis
intersection_of: MONDO:0017838 ! sclerosteosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 ! LRP4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 {source="MONDO:mim2gene_medgen"} ! LRP4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013680
name: cognitive impairment with or without cerebellar ataxia
subset: otar {source="MONDO:OTAR"}
synonym: "CIAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614306]
synonym: "cognitive impairment with or without cerebellar ataxia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614306]
xref: MEDGEN:482045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614306 {source="MONDO:equivalentTo"}
xref: UMLS:C3280415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482045"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 {source="MONDO:mim2gene_medgen"} ! SCN8A

[Term]
id: MONDO:0013681
name: alpha-methylacyl-CoA racemase deficiency
def: "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." [https://github.com/monarch-initiative/mondo/issues/2632, NCIT:C119677]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15787", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-methylacyl-CoA racemase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614307]
synonym: "AMACR" EXACT ABBREVIATION [NCIT:C119677]
synonym: "AMACR deficiency" EXACT [DOID:0060602, https://www.clinicalgenome.org/affiliation/40049/, OMIM:614307]
synonym: "AMACRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614307]
xref: DOID:0060602 {source="MONDO:equivalentTo"}
xref: EFO:1001980 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:15787 {source="MONDO:GARD"}
xref: MEDGEN:482058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565768 {source="MONDO:equivalentTo"}
xref: NANDO:1200768 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119677 {source="MONDO:equivalentTo"}
xref: OMIM:614307 {source="MONDO:equivalentTo", source="DOID:0060602"}
xref: Orphanet:79095 {source="OMIM:614307"}
xref: SCTID:700463002 {source="MONDO:equivalentTo"}
xref: UMLS:C3280428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482058"}
is_a: MONDO:0019233 {source="https://github.com/monarch-initiative/mondo/issues/1196", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/451 {source="MONDO:mim2gene_medgen"} ! AMACR

[Term]
id: MONDO:0013682
name: vesicoureteral reflux 4
subset: gard_rare {source="GARD:18421", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "vesicoureteral reflux 4" EXACT [MONDO:Lexical, OMIM:614317]
synonym: "VUR4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614317]
xref: GARD:18421 {source="MONDO:GARD"}
xref: MEDGEN:482069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614317 {source="MONDO:equivalentTo"}
xref: Orphanet:289365 {source="OMIM:614317"}
xref: UMLS:C3280439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482069"}
is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614317", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux

[Term]
id: MONDO:0013683
name: vesicoureteral reflux 5
subset: gard_rare {source="GARD:18422", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "vesicoureteral reflux 5" EXACT [MONDO:Lexical, OMIM:614318]
synonym: "VUR5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614318]
xref: GARD:18422 {source="MONDO:GARD"}
xref: MEDGEN:482070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614318 {source="MONDO:equivalentTo"}
xref: Orphanet:289365 {source="OMIM:614318"}
xref: UMLS:C3280440 {source="MEDGEN:482070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614318", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux

[Term]
id: MONDO:0013684
name: vesicoureteral reflux 6
subset: gard_rare {source="GARD:18423", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "vesicoureteral reflux 6" EXACT [MONDO:Lexical, OMIM:614319]
synonym: "VUR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614319]
xref: GARD:18423 {source="MONDO:GARD"}
xref: MEDGEN:482071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614319 {source="MONDO:equivalentTo"}
xref: Orphanet:289365 {source="OMIM:614319"}
xref: UMLS:C3280441 {source="MEDGEN:482071", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:614319", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux

[Term]
id: MONDO:0013685
name: pancreatic cancer, susceptibility to, 4
def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "BRCA1 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial pancreatic carcinoma caused by mutation in BRCA1" EXACT [MONDO:design_pattern]
synonym: "pancreatic cancer, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614320]
synonym: "pancreatic cancer, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614320]
synonym: "PNCA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614320]
synonym: "susceptibility to pancreatic cancer 4" RELATED [OMIM:614320]
xref: MEDGEN:482072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614320 {source="MONDO:equivalentTo"}
xref: Orphanet:1333 {source="OMIM:614320"}
xref: UMLS:C3280442 {source="MEDGEN:482072", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700268 {source="https://clinicalgenome.org/affiliation/40023/"} ! BRCA1-related cancer predisposition
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1100 ! BRCA1
intersection_of: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm
relationship: excluded_subClassOf MONDO:0015278 {source="MONDO:Redundant", source="Orphanet:1333/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial pancreatic carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1100 {source="MONDO:mim2gene_medgen", source="OMIM:614320"} ! BRCA1

[Term]
id: MONDO:0013686
name: distal myopathy, Tateyama type
def: "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability." [Orphanet:488650]
subset: gard_rare {source="GARD:17900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488650"}
subset: orphanet_rare {source="Orphanet:488650"}
subset: rare
synonym: "MPDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614321]
synonym: "myopathy, distal, Tateyama type" RELATED [MONDO:Lexical, OMIM:614321]
xref: DOID:0111191 {source="MONDO:equivalentTo"}
xref: GARD:17900 {source="MONDO:GARD"}
xref: MEDGEN:482073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614321 {source="MONDO:equivalentTo", source="Orphanet:488650"}
xref: Orphanet:488650 {source="MONDO:equivalentTo"}
xref: SCTID:711265009 {source="MONDO:equivalentTo"}
xref: UMLS:C3280443 {source="MEDGEN:482073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016108 {source="Orphanet:488650"} ! autosomal dominant distal myopathy
is_a: MONDO:0018949 {source="DC-OMIM:614321", source="MONDO:Redundant", source="Orphanet:488650/inferred"} ! distal myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="MONDO:mim2gene_medgen"} ! CAV3

[Term]
id: MONDO:0013687
name: autosomal recessive spinocerebellar ataxia 12
def: "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." [Orphanet:284282]
subset: gard_rare {source="GARD:17313", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284282"}
subset: orphanet_rare {source="Orphanet:284282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" EXACT []
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency" RELATED [Orphanet:284282]
synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia 12" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive spinocerebellar ataxia type 12" EXACT [DOID:0080060, MONDORULE:2, Orphanet:284282]
synonym: "SCAR12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614322, Orphanet:284282]
synonym: "spinocerebellar ataxia with intellectual disability and epilepsy" RELATED [OMIM:614322]
synonym: "spinocerebellar ataxia with mental retardation and epilepsy" RELATED DEPRECATED [OMIM:614322]
synonym: "spinocerebellar ataxia, autosomal recessive 12" RELATED [MONDO:Lexical, OMIM:614322]
synonym: "spinocerebellar ataxia, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:614322]
synonym: "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080060 {source="MONDO:equivalentTo"}
xref: GARD:17313 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:284282", source="Orphanet:284282/attributed", source="Orphanet:284282/ntbt"}
xref: MEDGEN:482082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614322 {source="Orphanet:284282", source="MONDO:equivalentTo", source="Orphanet:284282/e", source="DOID:0080060"}
xref: Orphanet:284282 {source="OMIM:614322", source="MONDO:equivalentTo"}
xref: UMLS:C3280452 {source="MEDGEN:482082", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018446 {source="MONDO:Redundant", source="Orphanet:284282"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
intersection_of: MONDO:0018446 ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12799 ! WWOX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12799 {source="MONDO:mim2gene_medgen"} ! WWOX

[Term]
id: MONDO:0013688
name: linear and whorled nevoid hypermelanosis
def: "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism." [https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis]
subset: gard_rare {source="GARD:11004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79150"}
subset: orphanet_rare {source="Orphanet:79150"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Becker Nevus" EXACT [NCIT:C3924]
synonym: "Becker's Nevus" EXACT [NCIT:C3924]
synonym: "hyperpigmentation, progressive cribriform and zosteriform" RELATED [OMIM:614323]
synonym: "linear and whorled hypermelanosis" RELATED [GARD:0011004]
synonym: "linear papular ectodermal-mesodermal hamartoma" EXACT [NCIT:C3924]
synonym: "LWNH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614323]
synonym: "melanosis Neviformis" EXACT [NCIT:C3924]
synonym: "nevoid hypermelanosis, linear and whorled" RELATED [GARD:0011004, MONDO:Lexical, OMIM:614323]
synonym: "pigmented hairy Epidermal Nevus" EXACT [NCIT:C3924]
synonym: "pigmented hairy Nevus of Becker" EXACT [NCIT:C3924]
synonym: "progressive cribriform and zosteriform hyperpigmentation" EXACT [NCIT:C3924]
synonym: "reticulate hyperpigmentation of Iijima" RELATED [GARD:0011004]
synonym: "zebra-like hyperpigmentation" RELATED [GARD:0011004]
synonym: "zosteriform hyperpigmentation" RELATED [GARD:0011004]
synonym: "zosteriform lentiginous nevus" RELATED [GARD:0011004]
xref: GARD:11004 {source="MONDO:GARD"}
xref: ICD10CM:L81.4 {source="Orphanet:79150", source="Orphanet:79150/attributed", source="Orphanet:79150/ntbt"}
xref: MEDGEN:473394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3924 {source="MONDO:equivalentTo"}
xref: OMIM:614323 {source="MONDO:equivalentTo", source="Orphanet:79150", source="Orphanet:79150/e"}
xref: Orphanet:79150 {source="OMIM:614323", source="MONDO:equivalentTo"}
xref: SCTID:403803002 {source="MONDO:equivalentTo"}
xref: UMLS:C1304501 {source="MEDGEN:473394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="NCIT:C3924"} ! hamartoma
is_a: MONDO:0011500 ! Becker nevus syndrome
is_a: MONDO:0019289 {source="Orphanet:79150"} ! hyperpigmentation of the skin
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis" xsd:anyURI {source="GARD:0011004"}

[Term]
id: MONDO:0013689
name: ovarian dysgenesis 3
def: "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18041", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46 XX gonadal dysgenesis caused by mutation in PSMC3IP" EXACT [MONDO:design_pattern]
synonym: "ODG3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614324]
synonym: "ovarian dysgenesis 3" EXACT [MONDO:Lexical, OMIM:614324]
synonym: "ovarian dysgenesis type 3" EXACT [MONDORULE:1, OMIM:614324]
synonym: "PSMC3IP 46 XX gonadal dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080495 {source="MONDO:equivalentTo"}
xref: GARD:18041 {source="MONDO:GARD"}
xref: MEDGEN:482101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614324 {source="MONDO:equivalentTo"}
xref: Orphanet:243 {source="OMIM:614324"}
xref: UMLS:C3280471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482101"}
is_a: MONDO:0009299 {source="MONDO:Redundant", source="OMIM:614324", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis
intersection_of: MONDO:0009299 ! 46 XX gonadal dysgenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17928 ! PSMC3IP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17928 {source="MONDO:mim2gene_medgen"} ! PSMC3IP

[Term]
id: MONDO:0013690
name: Pitt-Hopkins-like syndrome 2
def: "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NRXN1 Pitt-Hopkins-like syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pitt-Hopkins-like syndrome 2" EXACT [MONDO:Lexical, OMIM:614325]
synonym: "Pitt-Hopkins-like syndrome caused by mutation in NRXN1" EXACT [MONDO:design_pattern]
synonym: "Pitt-Hopkins-like syndrome type 2" EXACT [MONDORULE:1, OMIM:614325]
synonym: "PTHSL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614325]
xref: DOID:0111332 {source="MONDO:equivalentTo"}
xref: MEDGEN:482109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614325 {source="MONDO:equivalentTo"}
xref: Orphanet:221150 {source="OMIM:614325"}
xref: UMLS:C3280479 {source="MEDGEN:482109", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016377 {source="MONDO:Redundant", source="Orphanet:221150/btnt"} ! Pitt-Hopkins-like syndrome
intersection_of: MONDO:0016377 ! Pitt-Hopkins-like syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 ! NRXN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 {source="MONDO:mim2gene_medgen"} ! NRXN1

[Term]
id: MONDO:0013691
name: Feingold syndrome type 2
def: "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." [Orphanet:391646]
subset: gard_rare {source="GARD:17625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly with short stature and microcephaly" RELATED [OMIM:614326]
synonym: "brachydactyly-short stature-microcephaly syndrome" EXACT [Orphanet:391646]
synonym: "Brunner-Winter syndrome type 2" EXACT [Orphanet:391646]
synonym: "Feingold syndrome 2" RELATED [MONDO:Lexical, OMIM:614326]
synonym: "Feingold syndrome type 2" EXACT [MONDORULE:1, OMIM:614326]
synonym: "FGLDS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614326, Orphanet:391646]
synonym: "FS2" EXACT ABBREVIATION [Orphanet:391646]
synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 2" EXACT [Orphanet:391646]
synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2" EXACT [Orphanet:391646]
synonym: "MMT type 2" EXACT [Orphanet:391646]
xref: GARD:17625 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:391646/attributed", source="Orphanet:391646/ntbt", source="Orphanet:391646"}
xref: MEDGEN:482119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614326 {source="Orphanet:391646/e", source="MONDO:equivalentTo", source="Orphanet:391646"}
xref: Orphanet:1305 {source="OMIM:614326"}
xref: Orphanet:391646 {source="OMIM:614326", source="MONDO:equivalentTo"}
xref: UMLS:C3280489 {source="MEDGEN:482119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015267 {source="DC-OMIM:614326", source="MONDO:Redundant", source="OMIM:614326", source="Orphanet:391646"} ! Feingold syndrome
intersection_of: MONDO:0015267 ! Feingold syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23564 ! MIR17HG
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614326", source="Orphanet:391646"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23564 {source="MONDO:mim2gene_medgen"} ! MIR17HG

[Term]
id: MONDO:0013692
name: BAP1-related tumor predisposition syndrome
def: "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." [Orphanet:289539]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289539"}
subset: orphanet_rare {source="Orphanet:289539"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BAP1 tumor predisposition syndrome" RELATED [GARD:0013219]
synonym: "BAP1 tumour predisposition syndrome" RELATED OMO:0003005 []
synonym: "BAP1-related tumor predisposition syndrome" EXACT CLINGEN_LABEL []
synonym: "TPDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614327]
synonym: "tumor predisposition syndrome" RELATED [MONDO:Lexical, OMIM:614327]
synonym: "tumor susceptibility linked to germline BAP1 mutations" EXACT [Orphanet:289539]
synonym: "tumour predisposition syndrome" RELATED OMO:0003005 []
synonym: "tumour susceptibility linked to germline BAP1 mutations" EXACT OMO:0003005 []
xref: GARD:13219 {source="MONDO:GARD"}
xref: MEDGEN:482122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614327 {source="Orphanet:289539/e", source="MONDO:equivalentTo", source="Orphanet:289539"}
xref: Orphanet:289539 {source="MONDO:equivalentTo", source="OMIM:614327"}
xref: SCTID:765057007 {source="MONDO:equivalentTo"}
xref: UMLS:C3280492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482122"}
is_a: MONDO:0015356 {source="Orphanet:289539"} ! hereditary neoplastic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/950 {source="MONDO:mim2gene_medgen"} ! BAP1

[Term]
id: MONDO:0013693
name: inflammatory skin and bowel disease, neonatal, 1
def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADAM17 neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory skin and bowel disease, neonatal, 1" EXACT [MONDO:Lexical, OMIM:614328]
synonym: "inflammatory skin and bowel disease, neonatal, type 1" EXACT [MONDORULE:1, OMIM:614328]
synonym: "neonatal inflammatory skin and bowel disease caused by mutation in ADAM17" EXACT [MONDO:design_pattern]
synonym: "NISBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614328]
xref: GARD:18429 {source="MONDO:GARD"}
xref: MEDGEN:482131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614328 {source="MONDO:equivalentTo"}
xref: Orphanet:294023 {source="OMIM:614328"}
xref: UMLS:C3280501 {source="MONDO:equivalentTo", source="MEDGEN:482131", source="MONDO:MEDGEN"}
is_a: MONDO:0017411 {source="DC-OMIM:614328", source="MONDO:Redundant", source="OMIM:614328", source="Orphanet:294023/btnt"} ! neonatal inflammatory skin and bowel disease
intersection_of: MONDO:0017411 ! neonatal inflammatory skin and bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/195 ! ADAM17
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/195 {source="MONDO:mim2gene_medgen"} ! ADAM17

[Term]
id: MONDO:0013694
name: intellectual disability, autosomal recessive 31
subset: gard_rare {source="GARD:22553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 31" EXACT [MONDO:Lexical, OMIM:614329]
synonym: "mental retardation, autosomal recessive 31" RELATED DEPRECATED [MONDO:Lexical, OMIM:614329]
synonym: "MRT31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614329]
xref: DOID:0081191 {source="MONDO:equivalentTo"}
xref: GARD:22553 {source="MONDO:GARD"}
xref: MEDGEN:482153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614329 {source="MONDO:equivalentTo"}
xref: UMLS:C3280523 {source="MONDO:equivalentTo", source="MEDGEN:482153", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:614329", source="OMIM:614329"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013695
name: colorectal cancer, hereditary nonpolyposis, type 6
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15789", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "colon cancer, hereditary nonpolyposis, type 6" RELATED [OMIM:614331]
synonym: "colorectal cancer, hereditary nonpolyposis, type 6" EXACT [MONDO:Lexical, OMIM:614331]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in TGFBR2" EXACT [MONDO:design_pattern]
synonym: "HNPCC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614331]
synonym: "TGFBR2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070273 {source="MONDO:equivalentTo"}
xref: GARD:15789 {source="MONDO:GARD"}
xref: MEDGEN:348732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566039 {source="MONDO:equivalentTo"}
xref: OMIM:614331 {source="MONDO:equivalentTo"}
xref: Orphanet:144 {source="OMIM:614331"}
xref: UMLS:C1860896 {source="MEDGEN:348732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018630 {source="MONDO:Redundant", source="OMIM:614331"} ! hereditary nonpolyposis colon cancer
intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 ! TGFBR2
relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:614331", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614331"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 {source="MONDO:mim2gene_medgen"} ! TGFBR2

[Term]
id: MONDO:0013696
name: chromosome 2p16.3 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 2P16.3 deletion syndrome" EXACT [OMIM:614332]
synonym: "schizophrenia, susceptibility to, 17" EXACT [OMIM:614332, OMIM:genemap2]
xref: MEDGEN:814824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614332 {source="MONDO:equivalentTo"}
xref: UMLS:C3808494 {source="MEDGEN:814824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:614332"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0005090 ! schizophrenia
is_a: MONDO:0016884 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2p16.3 ! 2p16.3 (Human)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 {source="MONDO:mim2gene_medgen"} ! NRXN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013697
name: intellectual disability, autosomal recessive 29
subset: gard_rare {source="GARD:22554", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 29" EXACT [MONDO:Lexical, OMIM:614333]
synonym: "mental retardation, autosomal recessive 29" RELATED DEPRECATED [MONDO:Lexical, OMIM:614333]
synonym: "MRT29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614333]
xref: DOID:0081192 {source="MONDO:equivalentTo"}
xref: GARD:22554 {source="MONDO:GARD"}
xref: MEDGEN:482155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614333 {source="MONDO:equivalentTo"}
xref: UMLS:C3280525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482155"}
is_a: MONDO:0019502 {source="DC-OMIM:614333", source="OMIM:614333"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013698
name: arthrogryposis, distal, type 1B
subset: gard_rare {source="GARD:15790", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arthrogryposis, distal, type 1B" EXACT [MONDO:Lexical, OMIM:614335]
synonym: "DA1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614335]
xref: DOID:0111598 {source="MONDO:equivalentTo"}
xref: GARD:15790 {source="MONDO:GARD"}
xref: MEDGEN:482156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614335 {source="MONDO:equivalentTo"}
xref: Orphanet:1146 {source="OMIM:614335"}
xref: UMLS:C3280526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482156"}
is_a: MONDO:0015240 {source="Orphanet:1146/btnt"} ! digitotalar dysmorphism
is_a: MONDO:0019942 ! distal arthrogryposis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 {source="MONDO:mim2gene_medgen"} ! MYBPC1

[Term]
id: MONDO:0013699
name: Lynch syndrome 4
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "colorectal cancer, hereditary nonpolyposis, type 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614337]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in PMS2" EXACT [MONDO:design_pattern]
synonym: "HNPCC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614337]
synonym: "PMS2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070275 {source="MONDO:equivalentTo"}
xref: GARD:15791 {source="MONDO:GARD"}
xref: MEDGEN:325005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563971 {source="MONDO:equivalentTo"}
xref: OMIM:614337 {source="MONDO:equivalentTo"}
xref: Orphanet:144 {source="OMIM:614337"}
xref: UMLS:C1838333 {source="MEDGEN:325005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018630 {source="MONDO:Redundant", source="OMIM:614337"} ! hereditary nonpolyposis colon cancer
intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9122 ! PMS2
relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:614337", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614337"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9122 {source="MONDO:mim2gene_medgen"} ! PMS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI

[Term]
id: MONDO:0013700
name: pancreatic triacylglycerol lipase deficiency
def: "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." [NCIT:C129030]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005073) ontology branch (https://orcid.org/0000-0002-1780-5237), and the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:17401", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:309031"}
subset: orphanet_rare {source="Orphanet:309031"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colipase, congenital absence of pancreatic" RELATED [OMIM:614338]
synonym: "lipase and colipase, congenital absence of pancreatic" RELATED [OMIM:614338]
synonym: "lipase and colipase, deficiency of" RELATED [OMIM:614338]
synonym: "lipase, congenital absence of pancreatic" RELATED [OMIM:614338]
synonym: "pancreatic colipase deficiency" RELATED [OMIM:614338]
synonym: "pancreatic lipase deficiency" RELATED [MONDO:Lexical, OMIM:614338]
synonym: "pancreatic triglyceride lipase deficiency" EXACT [Orphanet:309031]
synonym: "PL deficiency" RELATED [OMIM:614338]
synonym: "PNLIPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614338]
xref: GARD:17401 {source="MONDO:GARD"}
xref: ICD10CM:K90.3 {source="Orphanet:309031/attributed", source="Orphanet:309031/ntbt", source="MONDO:relatedTo", source="Orphanet:309031"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:482157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200912 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129030 {source="MONDO:equivalentTo"}
xref: OMIM:614338 {source="Orphanet:309031", source="MONDO:equivalentTo", source="Orphanet:309031/e"}
xref: Orphanet:309031 {source="MONDO:equivalentTo", source="OMIM:614338"}
xref: Orphanet:309108 {source="OMIM:614338"}
xref: Orphanet:309111 {source="OMIM:614338"}
xref: SCTID:78960005 {source="MONDO:equivalentTo"}
xref: UMLS:C3280527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482157"}
is_a: MONDO:0002356 {source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0000-0002-5002-8648"} ! pancreas disorder
is_a: MONDO:0002525 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited lipid metabolism disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-9310-0163"} ! metabolic disease
relationship: excluded_subClassOf MONDO:0002356 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0000-0002-5002-8648"} ! pancreas disorder
relationship: excluded_subClassOf MONDO:0002525 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited lipid metabolism disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9155 {source="MONDO:mim2gene_medgen"} ! PNLIP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6757" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013701
name: obsolete MRT32
comment: Obsoleted in OMIM.
xref: OMIM:614339 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1708" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016396

[Term]
id: MONDO:0013702
name: intellectual disability, autosomal recessive 27
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1" EXACT [MONDO:design_pattern]
synonym: "intellectual developmental disorder, autosomal recessive 27" EXACT [OMIM:614340, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 27" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614340]
synonym: "intellectual disability, autosomal recessive type 27" EXACT [MONDORULE:2, OMIM:614340]
synonym: "LINS1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 27" RELATED DEPRECATED [MONDO:Lexical, OMIM:614340]
synonym: "mental retardation, autosomal recessive type 27" EXACT DEPRECATED [MONDORULE:2, OMIM:614340]
synonym: "MRT27" RELATED DEPRECATED [MONDO:Lexical, OMIM:614340]
xref: DOID:0081193 {source="MONDO:equivalentTo"}
xref: GARD:22555 {source="MONDO:GARD"}
xref: MEDGEN:482168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614340 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:614340"}
xref: UMLS:C3280538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482168"}
is_a: MONDO:0019502 {source="DC-OMIM:614340", source="MONDO:Redundant", source="OMIM:614340"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30922 ! LINS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30922 {source="MONDO:mim2gene_medgen"} ! LINS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013703
name: intellectual disability, autosomal recessive 33
subset: gard_rare {source="GARD:22556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 33" EXACT [MONDO:Lexical, OMIM:614341]
synonym: "mental retardation, autosomal recessive 33" RELATED DEPRECATED [MONDO:Lexical, OMIM:614341]
synonym: "MRT33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614341]
xref: DOID:0081194 {source="MONDO:equivalentTo"}
xref: GARD:22556 {source="MONDO:GARD"}
xref: MEDGEN:482169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614341 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:614341"}
xref: UMLS:C3280539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482169"}
is_a: MONDO:0019502 {source="DC-OMIM:614341", source="OMIM:614341"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013704
name: intellectual disability, autosomal recessive 30
subset: gard_rare {source="GARD:22557", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 30" EXACT [MONDO:Lexical, OMIM:614342]
synonym: "mental retardation, autosomal recessive 30" RELATED DEPRECATED [MONDO:Lexical, OMIM:614342]
synonym: "MRT30" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614342]
xref: DOID:0081195 {source="MONDO:equivalentTo"}
xref: GARD:22557 {source="MONDO:GARD"}
xref: MEDGEN:482170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614342 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:614342"}
xref: UMLS:C3280540 {source="MEDGEN:482170", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:614342", source="OMIM:614342"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013705
name: intellectual disability, autosomal recessive 19
subset: gard_rare {source="GARD:22558", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 19" EXACT [MONDO:Lexical, OMIM:614343]
synonym: "mental retardation, autosomal recessive 19" RELATED DEPRECATED [MONDO:Lexical, OMIM:614343]
synonym: "MRT19" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614343]
xref: GARD:22558 {source="MONDO:GARD"}
xref: MEDGEN:482171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614343 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:614343"}
xref: UMLS:C3280541 {source="MEDGEN:482171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:614343", source="OMIM:614343"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013706
name: intellectual disability, autosomal recessive 23
subset: gard_rare {source="GARD:22559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 23" EXACT [MONDO:Lexical, OMIM:614344]
synonym: "mental retardation, autosomal recessive 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:614344]
synonym: "MRT23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614344]
xref: DOID:0081196 {source="MONDO:equivalentTo"}
xref: GARD:22559 {source="MONDO:GARD"}
xref: MEDGEN:482172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614344 {source="MONDO:equivalentTo"}
xref: UMLS:C3280542 {source="MEDGEN:482172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:614344", source="OMIM:614344"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013707
name: intellectual disability, autosomal recessive 24
subset: gard_rare {source="GARD:22560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 24" EXACT [MONDO:Lexical, OMIM:614345]
synonym: "mental retardation, autosomal recessive 24" RELATED DEPRECATED [MONDO:Lexical, OMIM:614345]
synonym: "MRT24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614345]
xref: DOID:0081197 {source="MONDO:equivalentTo"}
xref: GARD:22560 {source="MONDO:GARD"}
xref: MEDGEN:482173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614345 {source="MONDO:equivalentTo"}
xref: UMLS:C3280543 {source="MEDGEN:482173", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:614345", source="OMIM:614345"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013708
name: intellectual disability, autosomal recessive 25
subset: gard_rare {source="GARD:22561", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 25" EXACT [MONDO:Lexical, OMIM:614346]
synonym: "mental retardation, autosomal recessive 25" RELATED DEPRECATED [MONDO:Lexical, OMIM:614346]
synonym: "MRT25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614346]
xref: DOID:0081198 {source="MONDO:equivalentTo"}
xref: GARD:22561 {source="MONDO:GARD"}
xref: MEDGEN:482174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614346 {source="MONDO:equivalentTo"}
xref: UMLS:C3280544 {source="MEDGEN:482174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:614346", source="OMIM:614346"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013709
name: intellectual disability, autosomal recessive 28
subset: gard_rare {source="GARD:22562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 28" EXACT [MONDO:Lexical, OMIM:614347]
synonym: "mental retardation, autosomal recessive 28" RELATED DEPRECATED [MONDO:Lexical, OMIM:614347]
synonym: "MRT28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614347]
xref: DOID:0081199 {source="MONDO:equivalentTo"}
xref: GARD:22562 {source="MONDO:GARD"}
xref: MEDGEN:482175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614347 {source="MONDO:equivalentTo"}
xref: UMLS:C3280545 {source="MONDO:equivalentTo", source="MEDGEN:482175", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:614347", source="OMIM:614347"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0013710
name: Lynch syndrome 5
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "colorectal cancer, hereditary nonpolyposis, type 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614350]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in MSH6" EXACT [MONDO:design_pattern]
synonym: "HNPCC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614350]
synonym: "MSH6 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070272 {source="MONDO:equivalentTo"}
xref: GARD:15792 {source="MONDO:GARD"}
xref: MEDGEN:318886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563456 {source="MONDO:equivalentTo"}
xref: OMIM:614350 {source="MONDO:equivalentTo"}
xref: Orphanet:144 {source="OMIM:614350"}
xref: UMLS:C1833477 {source="MEDGEN:318886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018630 {source="MONDO:Redundant", source="OMIM:614350"} ! hereditary nonpolyposis colon cancer
intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7329 ! MSH6
relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:614350", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614350"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7329 {source="MONDO:mim2gene_medgen"} ! MSH6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI

[Term]
id: MONDO:0013711
name: peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
subset: gard_rare {source="GARD:17639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397744"}
subset: orphanet_rare {source="Orphanet:397744"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peripheral neuropathy, myopathy, hoarseness, and hearing loss" RELATED [MONDO:Lexical, OMIM:614369]
synonym: "peripheral neuropathy-myopathy-hoarseness-deafness syndrome" EXACT [Orphanet:397744]
synonym: "PNMHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614369]
xref: GARD:17639 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:397744", source="Orphanet:397744/attributed", source="Orphanet:397744/ntbt"}
xref: MEDGEN:482186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614369 {source="MONDO:equivalentTo", source="Orphanet:397744", source="Orphanet:397744/e"}
xref: Orphanet:397744 {source="OMIM:614369", source="MONDO:equivalentTo"}
xref: UMLS:C3280556 {source="MONDO:equivalentTo", source="MEDGEN:482186", source="MONDO:MEDGEN"}
is_a: MONDO:0015362 {source="Orphanet:397744"} ! neuronopathy, distal hereditary motor, autosomal dominant
is_a: MONDO:0016108 {source="Orphanet:397744"} ! autosomal dominant distal myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23212 {source="MONDO:mim2gene_medgen"} ! MYH14

[Term]
id: MONDO:0013712
name: surfactant metabolism dysfunction, pulmonary, 5
def: "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Csf2Rb deficiency" RELATED [OMIM:614370]
synonym: "CSF2RB hereditary pulmonary alveolar proteinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB" EXACT [MONDO:design_pattern]
synonym: "Pap due to Csf2Rb deficiency" RELATED [OMIM:614370]
synonym: "pulmonary alveolar proteinosis 5" RELATED [OMIM:614370]
synonym: "SMDP5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614370]
synonym: "surfactant metabolism dysfunction, pulmonary, 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614370]
synonym: "surfactant metabolism dysfunction, pulmonary, type 5" EXACT [MONDORULE:1, OMIM:614370]
xref: GARD:15793 {source="MONDO:GARD"}
xref: MEDGEN:482204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614370 {source="MONDO:equivalentTo"}
xref: Orphanet:264675 {source="OMIM:614370"}
xref: UMLS:C3280574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482204"}
is_a: MONDO:0012580 {source="MONDO:Redundant", source="OMIM:614370", source="Orphanet:264675/btnt"} ! hereditary pulmonary alveolar proteinosis
intersection_of: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2436 ! CSF2RB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2436 {source="MONDO:mim2gene_medgen"} ! CSF2RB

[Term]
id: MONDO:0013713
name: dengue virus, susceptibility to
subset: predisposition
synonym: "Dengue fever, protection against" RELATED [OMIM:614371]
synonym: "Dengue fever, susceptibility to" RELATED [OMIM:614371]
synonym: "Dengue hemorrhagic fever, susceptibility to" RELATED [OMIM:614371]
synonym: "Dengue shock syndrome, susceptibility to" RELATED [OMIM:614371]
synonym: "dengue virus, susceptibility to" EXACT [OMIM:614371]
synonym: "susceptibility to dengue virus" RELATED [OMIM:614371]
xref: MEDGEN:482212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614371 {source="MONDO:equivalentTo"}
xref: Orphanet:99828 {source="MONDO:relatedTo", source="OMIM:614371"}
xref: UMLS:C3280582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482212"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005502 ! dengue disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1641 {source="MONDO:mim2gene_medgen"} ! CD209

[Term]
id: MONDO:0013714
name: mannose-binding lectin deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lectin complement activation pathway, defect in, 1" RELATED [OMIM:614372]
synonym: "mannose-binding lectin deficiency" EXACT [OMIM:614372]
synonym: "mannose-binding protein deficiency" EXACT [OMIM:614372]
synonym: "MBL deficiency" RELATED [OMIM:614372]
synonym: "MBL2 deficiency" RELATED [OMIM:614372]
synonym: "MBLD" RELATED ABBREVIATION [OMIM:614372]
synonym: "MBP deficiency" RELATED [OMIM:614372]
xref: ICD9:279.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:482216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563602 {source="MONDO:equivalentTo"}
xref: OMIM:614372 {source="MONDO:equivalentTo"}
xref: Orphanet:449306 {source="OMIM:614372"}
xref: SCTID:703538003 {source="MONDO:equivalentTo"}
xref: UMLS:C3280586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482216"}
is_a: MONDO:0003847 {source="MESH:C563602/inferred"} ! hereditary disease
is_a: MONDO:0044209 {source="OMIM:614372"} ! disorder of lectin complement activation pathway
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6922 {source="MONDO:mim2gene_medgen"} ! MBL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013715
name: amyotrophic lateral sclerosis type 16
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15794", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS16" EXACT ABBREVIATION [DOID:0060207, MONDO:Lexical, OMIM:614373]
synonym: "amyotrophic lateral sclerosis 16" EXACT [DOID:0060207, OMIM:614373]
synonym: "amyotrophic lateral sclerosis 16, juvenile" RELATED [DOID:0060207, MONDO:Lexical, OMIM:614373]
synonym: "amyotrophic lateral sclerosis caused by mutation in SIGMAR1" EXACT [MONDO:design_pattern]
synonym: "SIGMAR1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060207 {source="MONDO:equivalentTo"}
xref: GARD:15794 {source="MONDO:GARD"}
xref: MEDGEN:482217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614373 {source="MONDO:equivalentTo", source="DOID:0060207"}
xref: Orphanet:300605 {source="OMIM:614373"}
xref: UMLS:C3280587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482217"}
is_a: MONDO:0005144 {source="DOID:0060207", source="MONDO:Redundant", source="OMIM:614373"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017593 {source="Orphanet:300605/btnt"} ! juvenile amyotrophic lateral sclerosis
is_a: MONDO:0024237 {source="MONDO:Redundant", source="MONDO:indirect"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8157 ! SIGMAR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8157 {source="MONDO:mim2gene_medgen"} ! SIGMAR1

[Term]
id: MONDO:0013716
name: aortic aneurysm, familial abdominal, 4
subset: gard_rare {source="GARD:16494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614375]
synonym: "aortic aneurysm, familial abdominal, 4" EXACT [MONDO:Lexical, OMIM:614375]
xref: GARD:16494 {source="MONDO:GARD"}
xref: MEDGEN:482227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614375 {source="MONDO:equivalentTo"}
xref: Orphanet:86 {source="OMIM:614375"}
xref: UMLS:C3280597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482227"}
is_a: MONDO:0007031 {source="OMIM:614375", source="Orphanet:86/btnt"} ! familial abdominal aortic aneurysm

[Term]
id: MONDO:0013717
name: asphyxiating thoracic dystrophy 5
def: "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15795", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "asphyxiating thoracic dystrophy 5" EXACT [OMIM:614376]
synonym: "asphyxiating thoracic dystrophy type 5" EXACT [DOID:0110089, MONDORULE:1]
synonym: "ATD5" EXACT ABBREVIATION [DOID:0110089]
synonym: "Jeune syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern]
synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT [DOID:0110089, MONDO:Lexical, OMIM:614376]
synonym: "SRTD5" EXACT ABBREVIATION [DOID:0110089, MONDO:Lexical, OMIM:614376]
synonym: "WDR19 Jeune syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110089 {source="MONDO:equivalentTo"}
xref: GARD:15795 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110089"}
xref: MEDGEN:482228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614376 {source="MONDO:equivalentTo", source="DOID:0110089"}
xref: Orphanet:474 {source="OMIM:614376"}
xref: UMLS:C3280598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482228"}
is_a: MONDO:0018770 {source="DOID:0110089", source="MONDO:Redundant", source="OMIM:614376"} ! Jeune syndrome
intersection_of: MONDO:0018770 ! Jeune syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 ! WDR19
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 {source="MONDO:mim2gene_medgen"} ! WDR19

[Term]
id: MONDO:0013718
name: nephronophthisis 13
def: "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14." [DOID:0111121, PMID:22019273]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "nephronophthisis 13" EXACT [MONDO:Lexical, OMIM:614377]
synonym: "nephronophthisis type 13" EXACT [DOID:0111121, MONDORULE:2, OMIM:614377]
synonym: "NPHP13" EXACT ABBREVIATION [DOID:0111121, MONDO:Lexical, OMIM:614377]
xref: DOID:0111121 {source="MONDO:equivalentTo"}
xref: MEDGEN:482242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614377 {source="MONDO:equivalentTo", source="DOID:0111121"}
xref: Orphanet:655 {source="OMIM:614377"}
xref: UMLS:C3280612 {source="MEDGEN:482242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019005 {source="DC-OMIM:614377", source="DOID:0111121", source="OMIM:614377"} ! nephronophthisis
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614377"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0013719
name: cranioectodermal dysplasia 4
subset: gard_rare {source="GARD:15796", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CED4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614378]
synonym: "cranioectodermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614378]
synonym: "cranioectodermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614378]
xref: DOID:0080806 {source="MONDO:equivalentTo"}
xref: GARD:15796 {source="MONDO:GARD"}
xref: MEDGEN:482246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614378 {source="MONDO:equivalentTo"}
xref: Orphanet:1515 {source="OMIM:614378"}
xref: UMLS:C3280616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482246"}
is_a: MONDO:0009032 {source="OMIM:614378", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614378"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 {source="MONDO:mim2gene_medgen"} ! WDR19

[Term]
id: MONDO:0013720
name: complement component 4b deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15797", source="MONDO:GARD"}
subset: rare
synonym: "C4B classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C4B deficiency" RELATED [OMIM:614379]
synonym: "C4BD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614379]
synonym: "classic complement early component deficiency caused by mutation in C4B" EXACT [MONDO:design_pattern]
synonym: "complement component 4B deficiency" RELATED [OMIM:614379]
synonym: "complement component 4b deficiency" EXACT [MONDO:Lexical, OMIM:614379]
xref: DOID:0060298 {source="MONDO:equivalentTo"}
xref: GARD:15797 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="DOID:0060298"}
xref: MEDGEN:482271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614379 {source="DOID:0060298", source="MONDO:equivalentTo"}
xref: Orphanet:169147 {source="OMIM:614379", source="DOID:0060298"}
xref: UMLS:C3280641 {source="MEDGEN:482271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000015 {source="DC-OMIM:614379", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
intersection_of: MONDO:0000015 ! classic complement early component deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1324 ! C4B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1324 {source="MONDO:mim2gene_medgen"} ! C4B

[Term]
id: MONDO:0013721
name: complement component 4a deficiency
def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15798", source="MONDO:GARD"}
subset: rare
synonym: "C4A classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "C4A deficiency" RELATED [OMIM:614380]
synonym: "C4AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614380]
synonym: "classic complement early component deficiency caused by mutation in C4A" EXACT [MONDO:design_pattern]
synonym: "complement component 4A deficiency" RELATED [OMIM:614380]
synonym: "complement component 4a deficiency" EXACT [MONDO:Lexical, OMIM:614380]
xref: DOID:0060297 {source="MONDO:equivalentTo"}
xref: GARD:15798 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="DOID:0060297"}
xref: MEDGEN:482272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565167 {source="MONDO:equivalentTo"}
xref: OMIM:614380 {source="DOID:0060297", source="MONDO:equivalentTo"}
xref: Orphanet:169147 {source="DOID:0060297", source="OMIM:614380"}
xref: UMLS:C3280642 {source="MEDGEN:482272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000015 {source="DC-OMIM:614380", source="MONDO:Redundant"} ! classic complement early component deficiency
is_a: MONDO:0015699 {source="Orphanet:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency
intersection_of: MONDO:0000015 ! classic complement early component deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1323 ! C4A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1323 {source="MONDO:mim2gene_medgen"} ! C4A

[Term]
id: MONDO:0013722
name: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
def: "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." [MONDO:patterns/disease_series_by_gene]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:18624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85186"}
subset: ordo_malformation_syndrome {source="Orphanet:85186"}
subset: orphanet_rare {source="Orphanet:85186"}
subset: rare
synonym: "cerebellar hypoplasia with endosteal sclerosis" RELATED [OMIM:213002]
synonym: "endosteal sclerosis-cerebellar hypoplasia syndrome" EXACT [MONDO:0008940]
synonym: "HLD8" EXACT ABBREVIATION [DOID:0060797, MONDO:Lexical, OMIM:614381]
synonym: "leukodystrophy caused by mutation in POLR3B" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:614381]
synonym: "POLR3B leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060797 {source="MONDO:equivalentTo"}
xref: GARD:18624 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="DOID:0060797"}
xref: ICD10CM:Q87.8 {source="Orphanet:85186/attributed", source="Orphanet:85186/ntbt", source="Orphanet:85186"}
xref: MEDGEN:482274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535353 {source="Orphanet:85186/e", source="MONDO:equivalentTo", source="Orphanet:85186"}
xref: OMIM:213002 {source="MONDO:equivalentObsolete", source="Orphanet:85186/e", source="Orphanet:85186"}
xref: OMIM:614381 {source="MONDO:equivalentTo", source="DOID:0060797"}
xref: Orphanet:85186 {source="OMIM:213002", source="MONDO:equivalentTo"}
xref: Orphanet:88637 {source="OMIM:614381"}
xref: UMLS:C3280644 {source="MONDO:equivalentTo", source="MEDGEN:482274", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
is_a: MONDO:0019046 {source="DOID:0060797", source="DOID:0060797/inferred", source="MONDO:Redundant", source="OMIM:614381"} ! leukodystrophy
is_a: MONDO:0020022 ! central nervous system malformation
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30348 ! POLR3B
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30348 ! POLR3B
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30348 {source="MONDO:mim2gene_medgen"} ! POLR3B
relationship: disease_has_feature HP:0011001 {source="Orphanet:85186"} ! Increased bone mineral density
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:85186", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30348 {source="MONDO:mim2gene_medgen"} ! POLR3B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4516" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0013723
name: bacteremia, susceptibility to, 1
def: "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "bacteremia, protection against" EXACT [OMIM:614382, OMIM:genemap2]
synonym: "bacteremia, resistance to" RELATED [OMIM:614382]
synonym: "bacteremia, susceptibility caused by mutation in TIRAP" EXACT [MONDO:design_pattern]
synonym: "bacteremia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614382]
synonym: "bacteremia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:614382]
synonym: "BACTS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614382]
synonym: "TIRAP bacteremia, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:482275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614382 {source="MONDO:equivalentTo"}
xref: UMLS:C3280645 {source="MEDGEN:482275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000108 {source="DC-OMIM:614382", source="MONDO:Redundant"} ! bacteremia, susceptibility
intersection_of: MONDO:0000108 ! bacteremia, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17192 ! TIRAP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17192 {source="MONDO:mim2gene_medgen"} ! TIRAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013724
name: bacteremia, susceptibility to, 2
def: "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "bacteremia, susceptibility caused by mutation in CISH" EXACT [MONDO:design_pattern]
synonym: "bacteremia, susceptibility to" EXACT [OMIM:614383, OMIM:genemap2]
synonym: "bacteremia, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:614383]
synonym: "bacteremia, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:614383]
synonym: "BACTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614383]
synonym: "CISH bacteremia, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:482277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614383 {source="MONDO:equivalentTo"}
xref: UMLS:C3280647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482277"}
is_a: MONDO:0000108 {source="DC-OMIM:614383", source="MONDO:Redundant"} ! bacteremia, susceptibility
intersection_of: MONDO:0000108 ! bacteremia, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1984 ! CISH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1984 {source="MONDO:mim2gene_medgen"} ! CISH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013725
name: colorectal cancer, hereditary nonpolyposis, type 7
def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15799", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "colorectal cancer, hereditary nonpolyposis, type 7" EXACT [MONDO:Lexical, OMIM:614385]
synonym: "hereditary nonpolyposis colon cancer caused by mutation in MLH3" EXACT [MONDO:design_pattern]
synonym: "HNPCC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614385]
synonym: "MLH3 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070276 {source="MONDO:equivalentTo"}
xref: GARD:15799 {source="MONDO:GARD"}
xref: MEDGEN:346893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565777 {source="MONDO:equivalentTo"}
xref: OMIM:614385 {source="MONDO:equivalentTo"}
xref: Orphanet:144 {source="OMIM:614385"}
xref: UMLS:C1858380 {source="MEDGEN:346893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018630 {source="MONDO:Redundant", source="OMIM:614385"} ! hereditary nonpolyposis colon cancer
intersection_of: MONDO:0018630 ! hereditary nonpolyposis colon cancer
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7128 ! MLH3
relationship: excluded_subClassOf MONDO:0005835 {source="DC-OMIM:614385", source="https://orcid.org/0000-0001-5208-3432"} ! Lynch syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614385"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7128 {source="MONDO:mim2gene_medgen"} ! MLH3

[Term]
id: MONDO:0013726
name: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
subset: gard_rare {source="GARD:17509", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:330050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "EMPF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614388]
synonym: "EMPF1" RELATED ABBREVIATION [OMIM:614388]
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 1" RELATED [OMIM:614388]
synonym: "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission" RELATED [MONDO:Lexical, OMIM:614388]
synonym: "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" EXACT []
synonym: "lethal encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT [UMLS:C3280660]
xref: DOID:0070347 {source="MONDO:equivalentTo"}
xref: GARD:17509 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:330050/attributed", source="Orphanet:330050/ntbt", source="Orphanet:330050"}
xref: MEDGEN:482290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614388 {source="Orphanet:330050/e", source="MONDO:equivalentTo", source="Orphanet:330050"}
xref: Orphanet:330050 {source="OMIM:614388", source="MONDO:equivalentTo"}
xref: UMLS:C3280660 {source="MEDGEN:482290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0054865 {source="OMIM:614388", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2973 {source="MONDO:mim2gene_medgen"} ! DNM1L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0013727
name: pregnancy loss, recurrent, susceptibility to, 1
def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "abortion, spontaneous, recurrent" RELATED [OMIM:614389]
synonym: "embryonic loss, recurrent" RELATED [OMIM:614389]
synonym: "F5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fetal loss, recurrent, susceptibility to" RELATED [OMIM:614389]
synonym: "foetal loss, recurrent, susceptibility to" RELATED OMO:0003005 []
synonym: "miscarriage, recurrent" RELATED [OMIM:614389]
synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F5" EXACT [MONDO:design_pattern]
synonym: "pregnancy loss, recurrent, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614389]
synonym: "pregnancy loss, recurrent, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:614389]
synonym: "Rpl" RELATED [OMIM:614389]
synonym: "Rprgl" RELATED [OMIM:614389]
synonym: "RPRGL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614389]
synonym: "stillbirth, recurrent" RELATED [OMIM:614389]
xref: MEDGEN:482300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614389 {source="MONDO:equivalentTo"}
xref: UMLS:C3280670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482300"}
is_a: MONDO:0000144 {source="DC-OMIM:614389", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility
intersection_of: MONDO:0000144 ! pregnancy loss, recurrent, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3542 ! F5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3542 {source="MONDO:mim2gene_medgen"} ! F5

[Term]
id: MONDO:0013728
name: pregnancy loss, recurrent, susceptibility to, 2
def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "F2 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F2" EXACT [MONDO:design_pattern]
synonym: "pregnancy loss, recurrent, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:614390]
synonym: "pregnancy loss, recurrent, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:614390]
synonym: "RPRGL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614390]
xref: MEDGEN:482302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614390 {source="MONDO:equivalentTo"}
xref: UMLS:C3280672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482302"}
is_a: MONDO:0000144 {source="DC-OMIM:614390", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility
intersection_of: MONDO:0000144 ! pregnancy loss, recurrent, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3535 ! F2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3535 {source="MONDO:mim2gene_medgen"} ! F2

[Term]
id: MONDO:0013729
name: pregnancy loss, recurrent, susceptibility to, 3
def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ANXA5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5" EXACT [MONDO:design_pattern]
synonym: "pregnancy loss, recurrent, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:614391]
synonym: "pregnancy loss, recurrent, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614391]
synonym: "RPRGL3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614391]
xref: MEDGEN:482304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614391 {source="MONDO:equivalentTo"}
xref: UMLS:C3280674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482304"}
is_a: MONDO:0000144 {source="DC-OMIM:614391", source="MONDO:Redundant"} ! pregnancy loss, recurrent, susceptibility
intersection_of: MONDO:0000144 ! pregnancy loss, recurrent, susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/543 ! ANXA5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/543 {source="MONDO:mim2gene_medgen"} ! ANXA5

[Term]
id: MONDO:0013730
name: graft versus host disease
def: "An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." [Orphanet:39812]
subset: gard_rare {source="GARD:16642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1203"}
subset: ordo_disorder {source="Orphanet:39812"}
subset: orphanet_rare {source="Orphanet:39812"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease, graft-versus-host" EXACT [MESH:D006086]
synonym: "disease, graft-vs-host" EXACT [MESH:D006086]
synonym: "disease, homologous wasting" RELATED [MESH:D006086]
synonym: "disease, runt" RELATED [MESH:D006086]
synonym: "diseases, graft-versus-host" EXACT [MESH:D006086]
synonym: "diseases, graft-vs-host" EXACT [MESH:D006086]
synonym: "graft versus host disease" EXACT [MESH:D006086]
synonym: "graft vs host disease" EXACT [NCIT:C3063]
synonym: "graft vs. host disease" EXACT [NCIT:C3063]
synonym: "graft-versus-host disease" EXACT [MESH:D006086, NCIT:C3063]
synonym: "graft-versus-host disease, resistance to" RELATED [OMIM:614395]
synonym: "graft-versus-host disease, susceptibility to" RELATED [MONDO:Lexical, OMIM:614395]
synonym: "graft-versus-host diseases" RELATED [MESH:D006086]
synonym: "graft-versus-host-disease" EXACT [NCIT:C3063]
synonym: "graft-vs-host disease" EXACT [MESH:D006086]
synonym: "graft-VS-host diseases" RELATED [MESH:D006086]
synonym: "GVH" EXACT ABBREVIATION [Orphanet:39812]
synonym: "GVHD" EXACT ABBREVIATION [NCIT:C3063]
synonym: "homologous wasting disease" RELATED [MESH:D006086]
synonym: "runt disease" EXACT [MESH:D006086, NCIT:C3063]
xref: DOID:0081267 {source="MONDO:equivalentTo"}
xref: GARD:16642 {source="MONDO:GARD"}
xref: ICD10CM:T86.0 {source="Orphanet:39812/ntbt", source="Orphanet:39812"}
xref: icd11.foundation:437372167 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:39812"}
xref: ICD9:279.50 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10018651 {source="Orphanet:39812/e", source="Orphanet:39812"}
xref: MEDGEN:9082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006086 {source="MONDO:equivalentTo"}
xref: NCIT:C3063 {source="MONDO:equivalentTo"}
xref: NORD:1203 {source="MONDO:NORD"}
xref: Orphanet:39812 {source="MONDO:equivalentTo", source="OMIM:614395"}
xref: SCTID:234646005 {source="MONDO:equivalentTo"}
xref: UMLS:C0018133 {source="MONDO:equivalentTo", source="MEDGEN:9082", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="MESH:D006086", source="MONDO:Redundant", source="Orphanet:39812"} ! immune system disorder
is_a: MONDO:0700222 {source="Orphanet:39812"} ! disease related to hematopoietic stem cell transplant
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5493" xsd:anyURI

[Term]
id: MONDO:0013731
name: MEGF10-related myopathy
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439212"}
subset: orphanet_rare {source="Orphanet:439212"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterised by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT OMO:0003005 []
synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT [PMID:22371254, PMID:27460346]
synonym: "congenital myopathy 10A, severe variant" EXACT [OMIM:614399]
synonym: "early-onset myopathy, areflexia, respiratory distress and dysphagia" RELATED [GARD:0012199]
synonym: "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome" RELATED [https://github.com/monarch-initiative/mondo/issues/1112]
synonym: "EMARDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614399, Orphanet:439212]
synonym: "MEGF10 myopathy" EXACT [https://github.com/monarch-initiative/mondo/issues/1112]
synonym: "MEGF10-related myopathy" EXACT CLINGEN_LABEL []
synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset" RELATED [MONDO:Lexical, OMIM:614399]
synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" RELATED [OMIM:614399]
xref: DOID:0111333 {source="MONDO:equivalentTo"}
xref: GARD:12199 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:439212", source="Orphanet:439212/attributed", source="Orphanet:439212/ntbt"}
xref: MEDGEN:482309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614399 {source="Orphanet:439212/e", source="MONDO:equivalentTo", source="Orphanet:439212"}
xref: Orphanet:439212 {source="MONDO:equivalentTo"}
xref: Orphanet:98920 {source="OMIM:614399"}
xref: UMLS:C3280679 {source="MEDGEN:482309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:614399", source="Orphanet:439212"} ! congenital myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29634 {source="MONDO:mim2gene_medgen"} ! MEGF10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1112" xsd:anyURI

[Term]
id: MONDO:0013732
name: glucocorticoid therapy, response to
synonym: "GCTR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614400]
synonym: "glucocorticoid therapy, response to" EXACT [MONDO:Lexical, OMIM:614400]
xref: MEDGEN:482319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614400 {source="MONDO:equivalentTo"}
xref: UMLS:C3280689 {source="MEDGEN:482319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18713 {source="MONDO:mim2gene_medgen"} ! GLCCI1

[Term]
id: MONDO:0013733
name: obsolete accelerated tumor formation, susceptibility to
comment: Reason: out of scope. Term to consider: None
synonym: "accelerated tumor formation, susceptibility to" EXACT [MONDO:Lexical, OMIM:614401]
synonym: "ACTFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614401]
xref: OMIM:614401 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4363" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0013734
name: microphthalmia, syndromic 11
def: "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614402]
synonym: "microphthalmia, syndromic 11" EXACT [MONDO:Lexical, OMIM:614402]
synonym: "microphthalmia, syndromic type 11" EXACT [MONDORULE:2, OMIM:614402]
synonym: "syndromic microphthalmia caused by mutation in VAX1" EXACT [MONDO:design_pattern]
synonym: "VAX1 syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111804 {source="MONDO:equivalentTo"}
xref: MEDGEN:765991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614402 {source="MONDO:equivalentTo"}
xref: UMLS:C3553077 {source="MEDGEN:765991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016073 {source="DC-OMIM:614402", source="MONDO:Redundant", source="OMIM:614402"} ! syndromic microphthalmia
intersection_of: MONDO:0016073 ! syndromic microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12660 ! VAX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12660 {source="MONDO:mim2gene_medgen"} ! VAX1

[Term]
id: MONDO:0013735
name: microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
def: "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." [Orphanet:329332]
subset: gard_rare {source="GARD:17502", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:329332"}
subset: ordo_malformation_syndrome {source="Orphanet:329332"}
subset: orphanet_rare {source="Orphanet:329332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCHCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614407]
synonym: "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" RELATED [MONDO:Lexical, OMIM:614407]
synonym: "microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome" EXACT [Orphanet:329332]
synonym: "Zaki-Gleeson syndrome" RELATED [OMIM:614407]
xref: GARD:17502 {source="MONDO:GARD"}
xref: MEDGEN:482322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614407 {source="Orphanet:329332/e", source="MONDO:equivalentTo", source="Orphanet:329332"}
xref: Orphanet:329332 {source="MONDO:equivalentTo", source="OMIM:614407"}
xref: UMLS:C3280692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482322"}
is_a: MONDO:0015159 {source="Orphanet:329332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:329332", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013736
name: obsolete myopathy, centronuclear, 3
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5906" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008048

[Term]
id: MONDO:0013737
name: hereditary spastic paraplegia 46
def: "A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase." [Orphanet:320391]
subset: gard_rare {source="GARD:17476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320391"}
subset: orphanet_rare {source="Orphanet:320391"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GBA2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 46" EXACT [DOID:0110798]
synonym: "autosomal recessive spastic paraplegia type 46" EXACT [DOID:0110798]
synonym: "GBA2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia 46" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia type 46" EXACT [DOID:0110798, MONDORULE:2]
synonym: "spastic paraplegia 46, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614409]
synonym: "SPG46" EXACT ABBREVIATION [DOID:0110798, MONDO:Lexical, OMIM:614409, Orphanet:320391]
xref: DOID:0110798 {source="MONDO:equivalentTo"}
xref: GARD:17476 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110798", source="Orphanet:320391/attributed", source="Orphanet:320391/ntbt", source="Orphanet:320391"}
xref: MEDGEN:473687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614409 {source="DOID:0110798", source="Orphanet:320391/e", source="MONDO:equivalentTo", source="Orphanet:320391"}
xref: Orphanet:320391 {source="DOID:0110798", source="MONDO:equivalentTo", source="OMIM:614409"}
xref: SCTID:723822009 {source="MONDO:equivalentTo"}
xref: UMLS:C2828721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473687"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110798", source="MONDO:Redundant", source="OMIM:614409", source="Orphanet:320391/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18986 {source="MONDO:mim2gene_medgen"} ! GBA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0013738
name: autosomal recessive nonsyndromic hearing loss 96
def: "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13." [DOID:0110538, PMID:21937999]
subset: gard_rare {source="GARD:22642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 96" NARROW [DOID:0110538]
synonym: "autosomal recessive nonsyndromic deafness 96" NARROW [OMIM:614414]
synonym: "autosomal recessive nonsyndromic deafness type 96" NARROW [DOID:0110538, MONDORULE:2]
synonym: "deafness, autosomal recessive 96" NARROW [MONDO:Lexical, OMIM:614414, OMIM:genemap2]
synonym: "DFNB96" NARROW ABBREVIATION [DOID:0110538, MONDO:Lexical, OMIM:614414]
xref: DOID:0110538 {source="MONDO:equivalentTo"}
xref: GARD:22642 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110538"}
xref: MEDGEN:854865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614414 {source="DOID:0110538", source="MONDO:equivalentTo"}
xref: UMLS:C3888337 {source="MEDGEN:854865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:614414", source="DOID:0110538", source="OMIM:614414"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013739
name: chilblain lupus 2
def: "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHBL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614415]
synonym: "chilblain lupus 2" EXACT [MONDO:Lexical, OMIM:614415]
synonym: "chilblain lupus caused by mutation in SAMHD1" EXACT [MONDO:design_pattern]
synonym: "Chilblain lupus type 2" EXACT [MONDORULE:1, OMIM:614415]
synonym: "SAMHD1 chilblain lupus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18494 {source="MONDO:GARD"}
xref: MEDGEN:482351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614415 {source="MONDO:equivalentTo"}
xref: Orphanet:90280 {source="OMIM:614415"}
xref: UMLS:C3280721 {source="MONDO:equivalentTo", source="MEDGEN:482351", source="MONDO:MEDGEN"}
is_a: MONDO:0018827 {source="OMIM:614415"} ! familial chilblain lupus
is_a: MONDO:0019557 {source="DC-OMIM:614415", source="OMIM:614415"} ! chilblain lupus
is_a: MONDO:0700260 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! SAMHD1-related type 1 interferonopathy
intersection_of: MONDO:0019557 ! chilblain lupus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 ! SAMHD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 {source="MONDO:mim2gene_medgen"} ! SAMHD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0013740
name: lethal occipital encephalocele-skeletal dysplasia syndrome
def: "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." [Orphanet:293925]
subset: gard_rare {source="GARD:17348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293925"}
subset: ordo_malformation_syndrome {source="Orphanet:293925"}
subset: orphanet_rare {source="Orphanet:293925"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" EXACT [OMIM:614416, OMIM:genemap2]
synonym: "radiohumeral fusions with other skeletal and craniofacial anomalies" RELATED [MONDO:Lexical, OMIM:614416]
synonym: "RHFCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614416]
xref: GARD:17348 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:293925/attributed", source="Orphanet:293925/ntbt", source="Orphanet:293925"}
xref: MEDGEN:482359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614416 {source="Orphanet:293925", source="MONDO:equivalentTo", source="Orphanet:293925/e"}
xref: Orphanet:293925 {source="MONDO:equivalentTo", source="OMIM:614416"}
xref: UMLS:C3280729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482359"}
is_a: MONDO:0015338 {source="Orphanet:293925"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:17389183", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20581 {source="MONDO:mim2gene_medgen"} ! CYP26B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0013741
name: familial temporal lobe epilepsy 5
def: "A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13." [DOID:0060752, PMID:21922598]
subset: gard_rare {source="GARD:18280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, familial temporal lobe, 5" RELATED [MONDO:Lexical, OMIM:614417]
synonym: "epilepsy, familial temporal lobe, type 5" EXACT [MONDORULE:1, OMIM:614417]
synonym: "ETL5" EXACT ABBREVIATION [DOID:0060752, MONDO:Lexical, OMIM:614417]
synonym: "familial temporal lobe epilepsy type 5" EXACT [DOID:0060752, MONDORULE:1]
xref: DOID:0060752 {source="MONDO:equivalentTo"}
xref: GARD:18280 {source="MONDO:GARD"}
xref: MEDGEN:482360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614417 {source="DOID:0060752", source="MONDO:equivalentTo"}
xref: Orphanet:163717 {source="DOID:0060752"}
xref: Orphanet:165805 {source="OMIM:614417"}
xref: UMLS:C3280730 {source="MEDGEN:482360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005115 {source="OMIM:614417"} ! temporal lobe epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17245 {source="MONDO:mim2gene_medgen"} ! CPA6

[Term]
id: MONDO:0013742
name: obsolete familial mesial temporal lobe epilepsy with febrile seizures
subset: ordo_disorder {source="Orphanet:165805"}
subset: otar {source="MONDO:OTAR"}
synonym: "FEB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614418]
synonym: "febrile seizures, familial, 11" RELATED [MONDO:Lexical, OMIM:614418]
synonym: "febrile seizures, familial, type 11" EXACT [MONDORULE:2, OMIM:614418]
xref: GARD:17011 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:165805 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0013743
name: autosomal systemic lupus erythematosus type 16
def: "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." [MONDO:patterns/hereditary]
comment: Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164
subset: gard_rare {source="GARD:17368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300345"}
subset: orphanet_rare {source="Orphanet:300345"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal SLE" BROAD [Orphanet:300345]
synonym: "familial SLE" BROAD [Orphanet:300345]
synonym: "familial systemic lupus erythematosus" BROAD [Orphanet:300345]
synonym: "SLEB16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614420]
synonym: "systemic lupus erythematosus 16" EXACT [OMIM:614420]
synonym: "systemic lupus erythematosus type 16" EXACT [MONDORULE:2, OMIM:614420]
xref: GARD:17368 {source="MONDO:GARD"}
xref: ICD10CM:M32.8 {source="Orphanet:300345", source="Orphanet:300345/attributed", source="Orphanet:300345/ntbt"}
xref: MEDGEN:482372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614420 {source="Orphanet:300345", source="MONDO:equivalentTo", source="Orphanet:300345/e"}
xref: Orphanet:300345 {source="OMIM:614420", source="MONDO:equivalentTo"}
xref: UMLS:C3280742 {source="MEDGEN:482372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007915 {source="DC-OMIM:614420", source="MONDO:Redundant"} ! systemic lupus erythematosus
intersection_of: MONDO:0007915 {source="MONDO:mim2gene_medgen"} ! systemic lupus erythematosus
intersection_of: has_characteristic MONDO:0021152 {source="MONDO:mim2gene_medgen"} ! inherited
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2959 {source="MONDO:mim2gene_medgen"} ! DNASE1L3

[Term]
id: MONDO:0013744
name: cataract 37
def: "A cataract that has material basis in variation in the region 12q24.2-q24.3." [DOID:0110252, PMID:21731060]
subset: gard_rare {source="GARD:15800", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 37" EXACT [MONDO:Lexical, OMIM:614422]
synonym: "cataract 37, autosomal dominant" EXACT [OMIM:614422, OMIM:genemap2]
synonym: "cataract type 37" EXACT [DOID:0110252, MONDORULE:2]
synonym: "cataract, congenital, cerulean type, 5" RELATED [OMIM:614422]
synonym: "CCA5" NARROW ABBREVIATION [DOID:0110252]
synonym: "congenital cataract cerulean type 5" NARROW [DOID:0110252]
synonym: "CTRCT37" EXACT ABBREVIATION [DOID:0110252, MONDO:Lexical, OMIM:614422]
xref: DOID:0110252 {source="MONDO:equivalentTo"}
xref: GARD:15800 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110252"}
xref: MEDGEN:482388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614422 {source="MONDO:equivalentTo", source="DOID:0110252"}
xref: Orphanet:217052 {source="OMIM:614422"}
xref: Orphanet:98989 {source="OMIM:614422"}
xref: UMLS:C3280758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482388"}
is_a: MONDO:0005129 {source="DOID:0110252", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:614422"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
is_a: MONDO:0020374 {source="Orphanet:98989/btnt"} ! cerulean cataract
is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! early-onset partial cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013745
name: Joubert syndrome 14
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15801", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS14" EXACT ABBREVIATION [DOID:0110983, MONDO:Lexical, OMIM:614424]
synonym: "Joubert syndrome 14" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614424]
synonym: "Joubert syndrome caused by mutation in TMEM237" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 14" EXACT [DOID:0110983, MONDORULE:2, OMIM:614424]
synonym: "TMEM237 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110983 {source="MONDO:equivalentTo"}
xref: GARD:15801 {source="MONDO:GARD"}
xref: MEDGEN:482396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614424 {source="MONDO:equivalentTo", source="DOID:0110983"}
xref: Orphanet:220493 {source="OMIM:614424"}
xref: Orphanet:220497 {source="OMIM:614424", source="MONDO:directSiblingOf"}
xref: Orphanet:2318 {source="OMIM:614424"}
xref: Orphanet:475 {source="OMIM:614424"}
xref: UMLS:C3280766 {source="MEDGEN:482396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009480 {source="Orphanet:2318/btnt"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0016364 {source="Orphanet:220493/btnt"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DOID:0110983", source="MONDO:Redundant", source="OMIM:614424", source="Orphanet:475/btnt"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14432 ! TMEM237
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14432 {source="MONDO:mim2gene_medgen"} ! TMEM237

[Term]
id: MONDO:0013746
name: ventricular septal defect 1
def: "Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: otar {source="MONDO:OTAR"}
synonym: "GATA4 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ventricular septal defect (disease) caused by mutation in GATA4" EXACT []
synonym: "ventricular septal defect 1" EXACT [MONDO:Lexical, OMIM:614429]
synonym: "ventricular septal defect type 1" EXACT [MONDORULE:1, OMIM:614429]
synonym: "VSD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614429]
xref: MEDGEN:482407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614429 {source="MONDO:equivalentTo"}
xref: Orphanet:1480 {source="OMIM:614429"}
xref: UMLS:C3280777 {source="MEDGEN:482407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002070 {source="DC-OMIM:614429", source="MONDO:Redundant", source="OMIM:614429"} ! ventricular septal defect
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0002070 ! ventricular septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4

[Term]
id: MONDO:0013747
name: atrioventricular septal defect 4
def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrioventricular septal defect 4" EXACT [MONDO:Lexical, OMIM:614430]
synonym: "atrioventricular septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern]
synonym: "atrioventricular septal defect type 4" EXACT [MONDORULE:1, OMIM:614430]
synonym: "AVSD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614430]
synonym: "GATA4 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:482411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614430 {source="MONDO:equivalentTo"}
xref: Orphanet:98722 {source="OMIM:614430"}
xref: UMLS:C3280781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482411"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0020290 {source="DC-OMIM:614430", source="MONDO:Redundant", source="OMIM:614430"} ! familial atrioventricular septal defect
intersection_of: MONDO:0020290 ! familial atrioventricular septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4

[Term]
id: MONDO:0013748
name: ventricular septal defect 2
def: "Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene." [MONDO:patterns/disease_series_by_gene]
subset: otar {source="MONDO:OTAR"}
synonym: "CITED2 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ventricular septal defect (disease) caused by mutation in CITED2" EXACT []
synonym: "ventricular septal defect 2" EXACT [MONDO:Lexical, OMIM:614431]
synonym: "ventricular septal defect type 2" EXACT [MONDORULE:1, OMIM:614431]
synonym: "VSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614431]
xref: MEDGEN:482413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614431 {source="MONDO:equivalentTo"}
xref: Orphanet:1480 {source="OMIM:614431"}
xref: UMLS:C3280783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482413"}
is_a: MONDO:0002070 {source="DC-OMIM:614431", source="MONDO:Redundant", source="OMIM:614431"} ! ventricular septal defect
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0002070 ! ventricular septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 ! CITED2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 {source="MONDO:mim2gene_medgen"} ! CITED2

[Term]
id: MONDO:0013749
name: ventricular septal defect 3
def: "Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene]
subset: otar {source="MONDO:OTAR"}
synonym: "NKX2-5 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ventricular septal defect (disease) caused by mutation in NKX2-5" EXACT []
synonym: "ventricular septal defect 3" EXACT [MONDO:Lexical, OMIM:614432]
synonym: "ventricular septal defect type 3" EXACT [MONDORULE:1, OMIM:614432]
synonym: "VSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614432]
xref: MEDGEN:482415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614432 {source="MONDO:equivalentTo"}
xref: Orphanet:1480 {source="OMIM:614432"}
xref: UMLS:C3280785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482415"}
is_a: MONDO:0002070 {source="DC-OMIM:614432", source="MONDO:Redundant", source="OMIM:614432"} ! ventricular septal defect
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0002070 ! ventricular septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5

[Term]
id: MONDO:0013750
name: atrial septal defect 8
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ASD8" EXACT ABBREVIATION [DOID:0110113, MONDO:Lexical, OMIM:614433]
synonym: "atrial heart septal defect caused by mutation in CITED2" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 8" EXACT [DOID:0110113, MONDORULE:1]
synonym: "atrial septal defect 8" EXACT [DOID:0110113, MONDO:Lexical, OMIM:614433]
synonym: "atrial septal defect type 8" EXACT [MONDORULE:1, OMIM:614433]
synonym: "CITED2 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110113 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q21.1 {source="DOID:0110113"}
xref: MEDGEN:482420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614433 {source="MONDO:equivalentTo", source="DOID:0110113"}
xref: Orphanet:1478 {source="OMIM:614433"}
xref: UMLS:C3280790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482420"}
is_a: MONDO:0006664 {source="DC-OMIM:614433", source="DOID:0110113", source="MONDO:Redundant", source="OMIM:614433"} ! atrial septal defect
intersection_of: MONDO:0006664 ! atrial septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 ! CITED2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 {source="MONDO:mim2gene_medgen"} ! CITED2

[Term]
id: MONDO:0013751
name: cutis laxa, autosomal dominant 2
def: "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADCL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614434]
synonym: "autosomal dominant cutis laxa 2" EXACT [DOID:0070136]
synonym: "autosomal dominant cutis laxa caused by mutation in FBLN5" EXACT [MONDO:design_pattern]
synonym: "cutis laxa, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:614434]
synonym: "cutis laxa, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614434]
synonym: "FBLN5 autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070136 {source="MONDO:equivalentTo"}
xref: GARD:15802 {source="MONDO:GARD"}
xref: MEDGEN:482424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614434 {source="MONDO:equivalentTo"}
xref: Orphanet:90348 {source="OMIM:614434"}
xref: UMLS:C3280794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482424"}
is_a: MONDO:0019571 {source="MONDO:Redundant", source="Orphanet:90348/btnt"} ! autosomal dominant cutis laxa
is_a: MONDO:0100237 {source="MONDO:Redundant", source="OMIM:614434"} ! inherited cutis laxa
intersection_of: MONDO:0019571 ! autosomal dominant cutis laxa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 ! FBLN5
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614434"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 {source="MONDO:mim2gene_medgen"} ! FBLN5

[Term]
id: MONDO:0013752
name: hypoplastic left heart syndrome 2
def: "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15803", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLHS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614435]
synonym: "hypoplastic left heart syndrome 2" EXACT [MONDO:Lexical, OMIM:614435]
synonym: "hypoplastic left heart syndrome caused by mutation in NKX2-5" EXACT [MONDO:design_pattern]
synonym: "hypoplastic left heart syndrome type 2" EXACT [MONDORULE:1, OMIM:614435]
synonym: "NKX2-5 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15803 {source="MONDO:GARD"}
xref: ICD10CM:Q23.4 {source="Orphanet:2248"}
xref: MedDRA:10021076 {source="Orphanet:2248"}
xref: MEDGEN:482425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018636 {source="Orphanet:2248"}
xref: OMIM:614435 {source="MONDO:equivalentTo"}
xref: Orphanet:2248 {source="OMIM:614435"}
xref: UMLS:C3280795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482425"}
is_a: MONDO:0004933 {source="MONDO:Redundant", source="OMIM:614435"} ! hypoplastic left heart syndrome
intersection_of: MONDO:0004933 ! hypoplastic left heart syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5

[Term]
id: MONDO:0013753
name: Charcot-Marie-Tooth disease axonal type 2P
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99941", source="Orphanet:300319"}
subset: orphanet_rare {source="Orphanet:99941", source="Orphanet:300319"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2G" EXACT [MONDO:0012070]
synonym: "Charcot Marie Tooth disease type 2G" RELATED [GARD:0009195]
synonym: "Charcot-Marie-Tooth disease caused by mutation in LRSAM1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2G" RELATED [GARD:0009195]
synonym: "Charcot-Marie-Tooth disease type 2P" EXACT [DOID:0110169]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2G" RELATED [GARD:0009195, MONDO:Lexical, OMIM:608591]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2G, formerly" RELATED [OMIM:614436]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2P" EXACT [MONDO:Lexical, OMIM:614436]
synonym: "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" RELATED [GARD:0009195]
synonym: "Charcot-Marie-Tooth disease, type 4A, axonal form" RELATED [GARD:0009195]
synonym: "Charcot-Marie-Tooth neuropathy type 2P" EXACT [DOID:0110169]
synonym: "Charcot-Marie-Tooth neuropathy, type 2G" RELATED [OMIM:608591]
synonym: "Charcot-Marie-Tooth neuropathy, type 2P" EXACT [OMIM:614436]
synonym: "Charcot-Marie-Toothe disease, axonal, type 2P" EXACT [GARD:0012435]
synonym: "CMT 2G" RELATED [GARD:0009195]
synonym: "CMT2G" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608591, Orphanet:99941]
synonym: "CMT2P" EXACT ABBREVIATION [DOID:0110169, MONDO:Lexical, OMIM:614436, Orphanet:300319]
synonym: "LRSAM1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110169 {source="MONDO:equivalentTo"}
xref: GARD:12435 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99941/attributed", source="Orphanet:99941/ntbt", source="Orphanet:99941", source="Orphanet:300319/attributed", source="Orphanet:300319/ntbt", source="Orphanet:300319", source="DOID:0110169"}
xref: MEDGEN:482427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608591 {source="Orphanet:99941", source="MONDO:equivalentObsolete", source="Orphanet:99941/e"}
xref: OMIM:614436 {source="Orphanet:300319/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:300319", source="DOID:0110169"}
xref: Orphanet:300319 {source="OMIM:614436", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:0110169"}
xref: Orphanet:99941 {source="GARD:0009195", source="MONDO:equivalentTo", source="OMIM:608591"}
xref: SCTID:719511005 {source="MONDO:equivalentTo"}
xref: UMLS:C3280797 {source="MEDGEN:482427", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110169/inferred", source="MONDO:Redundant", source="OMIM:614436", source="Orphanet:300319/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110169", source="Orphanet:300319", source="Orphanet:99941"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25135 ! LRSAM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25135 {source="MONDO:mim2gene_medgen"} ! LRSAM1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p" xsd:anyURI {source="GARD:0012435"}

[Term]
id: MONDO:0013754
name: cutis laxa, autosomal recessive, type 1B
def: "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." [DOID:0070133]
subset: gard_rare {source="GARD:15804", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCL1B" EXACT ABBREVIATION [DOID:0070133, MONDO:Lexical, OMIM:614437]
synonym: "autosomal recessive cutis laxa type IB" RELATED [DOID:0070133]
synonym: "cutis laxa, autosomal recessive, type IB" RELATED [MONDO:Lexical, OMIM:614437]
xref: DOID:0070133 {source="MONDO:equivalentTo"}
xref: GARD:15804 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070133"}
xref: MEDGEN:482428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614437 {source="DOID:0070133", source="MONDO:equivalentTo"}
xref: Orphanet:90349 {source="OMIM:614437"}
xref: UMLS:C3280798 {source="MEDGEN:482428", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019572 {source="DOID:0070133", source="Orphanet:90349/btnt"} ! autosomal recessive cutis laxa type 1
is_a: MONDO:0100237 {source="DOID:0070133/inferred", source="MONDO:Redundant", source="OMIM:614437"} ! inherited cutis laxa
intersection_of: MONDO:0100237 ! inherited cutis laxa
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3219 ! EFEMP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3219 {source="MONDO:mim2gene_medgen"} ! EFEMP2

[Term]
id: MONDO:0013755
name: PYCR1-related de Barsy syndrome
def: "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17340", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:293633"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:293633"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCL3B" EXACT ABBREVIATION [DOID:0070138, MONDO:Lexical, OMIM:614438]
synonym: "autosomal recessive cutis laxa type IIIB" RELATED [DOID:0070138]
synonym: "cutis laxa, autosomal recessive, type 3B" RELATED [OMIM:614438]
synonym: "cutis laxa, autosomal recessive, type IIIB" RELATED [MONDO:Lexical, OMIM:614438]
synonym: "De Barsy syndrome B" EXACT [DOID:0070138, OMIM:614438]
synonym: "de Barsy syndrome caused by mutation in PYCR1" EXACT [MONDO:design_pattern]
synonym: "PYCR1 de Barsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PYCR1 deficiency" EXACT [Orphanet:293633]
synonym: "pyrroline-5-carboxylate reductase 1 deficiency" EXACT [Orphanet:293633]
xref: DOID:0070138 {source="MONDO:equivalentTo"}
xref: GARD:17340 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070138"}
xref: ICD10CM:Q87.8 {source="Orphanet:293633/attributed", source="Orphanet:293633/ntbt", source="Orphanet:293633"}
xref: MEDGEN:482429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614438 {source="Orphanet:293633/e", source="MONDO:equivalentTo", source="DOID:0070138", source="Orphanet:293633"}
xref: Orphanet:293633 {source="MONDO:equivalentTo", source="OMIM:614438"}
xref: Orphanet:2962 {source="OMIM:614438"}
xref: UMLS:C3280799 {source="MEDGEN:482429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017569 {source="DOID:0070138", source="MONDO:Redundant", source="Orphanet:293633"} ! de Barsy syndrome
is_a: MONDO:0100237 {source="DOID:0070138/inferred", source="MONDO:Redundant", source="OMIM:614438", source="Orphanet:293633/inferred"} ! inherited cutis laxa
intersection_of: MONDO:0017569 ! de Barsy syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9721 ! PYCR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9721 {source="MONDO:mim2gene_medgen"} ! PYCR1

[Term]
id: MONDO:0013756
name: hypertrophic osteoarthropathy, primary, autosomal recessive, 2
def: "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15805", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive 2" EXACT [OMIM:614441, OMIM:genemap2]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 2" EXACT [MONDO:Lexical, OMIM:614441]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:614441]
synonym: "pachydermoperiostosis, autosomal recessive" RELATED [OMIM:614441]
synonym: "PDP, autosomal recessive" RELATED [OMIM:614441]
synonym: "PHOAR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614441]
synonym: "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1" EXACT [MONDO:design_pattern]
synonym: "SLCO2A1 primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15805 {source="MONDO:GARD"}
xref: MEDGEN:482430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614441 {source="MONDO:equivalentTo"}
xref: Orphanet:2796 {source="OMIM:614441"}
xref: UMLS:C3280800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482430"}
is_a: MONDO:0016620 {source="MONDO:0013756/inferred", source="MONDO:Redundant", source="OMIM:614441", source="Orphanet:2796/btnt"} ! primary hypertrophic osteoarthropathy
intersection_of: MONDO:0016620 ! primary hypertrophic osteoarthropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10955 ! SLCO2A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10955 {source="MONDO:mim2gene_medgen"} ! SLCO2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013757
name: congenital nongoitrous hypothyroidism 6
def: "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHNG6" EXACT ABBREVIATION [DOID:0070128, MONDO:Lexical, OMIM:614450]
synonym: "congenital nongoitrous hypothyroidism 6" EXACT [DOID:0070128]
synonym: "hypothyroidism, congenital, nongoitrous caused by mutation in THRA" EXACT [MONDO:design_pattern]
synonym: "hypothyroidism, congenital, nongoitrous, 6" EXACT [MONDO:Lexical, OMIM:614450]
synonym: "hypothyroidism, congenital, nongoitrous, type 6" EXACT [MONDORULE:1, OMIM:614450]
synonym: "THRA hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070128 {source="MONDO:equivalentTo"}
xref: ICD10CM:E03.1 {source="DOID:0070128"}
xref: MEDGEN:482447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614450 {source="MONDO:equivalentTo", source="DOID:0070128"}
xref: Orphanet:97927 {source="OMIM:614450"}
xref: UMLS:C3280817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482447"}
is_a: MONDO:0000045 {source="DC-OMIM:614450", source="MONDO:Redundant", source="OMIM:614450"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0018612 {source="DOID:0070128", source="MONDO:indirect"} ! congenital hypothyroidism
is_a: MONDO:0019995 {source="Orphanet:97927/btnt"} ! peripheral resistance to thyroid hormones
intersection_of: MONDO:0000045 ! hypothyroidism, congenital, nongoitrous
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11796 ! THRA
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11796 {source="MONDO:mim2gene_medgen"} ! THRA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013758
name: Charcot-Marie-Tooth disease dominant intermediate E
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown." [Orphanet:93114]
comment: Not in the OMIM series. {source="OMIM:614455"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93114"}
subset: orphanet_rare {source="Orphanet:93114"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [DOID:0110205]
synonym: "Charcot-Marie-Tooth disease - nephropathy" RELATED [GARD:0012011]
synonym: "Charcot-Marie-Tooth disease dominant intermediate E" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease dominant intermediate type E" EXACT [DOID:0110205, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate E" RELATED [MONDO:Lexical, OMIM:614455]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type E" EXACT [MONDORULE:1, OMIM:614455]
synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT [DOID:0110205, Orphanet:93114]
synonym: "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" EXACT [DOID:0110205, OMIM:614455]
synonym: "CMTDIE" EXACT ABBREVIATION [DOID:0110205, MONDO:Lexical, OMIM:614455, Orphanet:93114]
xref: DOID:0110205 {source="MONDO:equivalentTo"}
xref: GARD:12011 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110205", source="Orphanet:93114", source="Orphanet:93114/attributed", source="Orphanet:93114/ntbt"}
xref: MEDGEN:928336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614455 {source="DOID:0110205", source="MONDO:equivalentTo", source="Orphanet:93114", source="Orphanet:93114/e"}
xref: Orphanet:93114 {source="DOID:0110205", source="OMIM:614455", source="MONDO:equivalentTo"}
xref: SCTID:722294004 {source="MONDO:equivalentTo"}
xref: UMLS:C4302667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928336"}
is_a: MONDO:0019548 {source="Orphanet:93114", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23791 {source="MONDO:mim2gene_medgen"} ! INF2

[Term]
id: MONDO:0013759
name: melanoma, cutaneous malignant, susceptibility to, 8
def: "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer." [Orphanet:293822]
subset: ordo_disorder {source="Orphanet:293822"}
subset: orphanet_rare {source="Orphanet:293822"}
subset: predisposition
subset: rare
synonym: "CMM8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614456]
synonym: "melanoma and renal cell carcinoma, susceptibility to" RELATED [OMIM:614456]
synonym: "melanoma, cutaneous malignant, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:614456]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:614456]
synonym: "MITF-related melanoma and renal cell carcinoma predisposition syndrome" EXACT [Orphanet:293822]
synonym: "susceptibility to cutaneous malignant melanoma 8" RELATED [OMIM:614456]
xref: MEDGEN:463554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614456 {source="Orphanet:293822/e", source="MONDO:equivalentTo", source="Orphanet:293822"}
xref: Orphanet:293822 {source="OMIM:614456", source="MONDO:equivalentTo"}
xref: UMLS:C3152204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463554"}
is_a: MONDO:0020573 {source="OMIM:614456"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 ! MITF
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:293822", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:614456", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma

[Term]
id: MONDO:0013760
name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
subset: gard_rare {source="GARD:17515", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352333"}
subset: orphanet_rare {source="Orphanet:352333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome" EXACT [Orphanet:352333]
synonym: "ichthyosis, spastic quadriplegia, and intellectual disability" RELATED [MONDO:Lexical, OMIM:614457]
synonym: "ichthyosis, spastic quadriplegia, and mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457]
synonym: "ISQMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457]
xref: GARD:17515 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:352333/attributed", source="Orphanet:352333/ntbt", source="Orphanet:352333"}
xref: MEDGEN:482486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614457 {source="Orphanet:352333", source="MONDO:equivalentTo", source="Orphanet:352333/e"}
xref: Orphanet:352333 {source="OMIM:614457", source="MONDO:equivalentTo"}
xref: UMLS:C3280856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482486"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0013761
name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency
subset: gard_rare {source="GARD:13571", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:293955"}
subset: orphanet_rare {source="Orphanet:293955"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" EXACT CLINGEN_LABEL []
synonym: "encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency" RELATED [OMIM:614458]
synonym: "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" RELATED [MONDO:Lexical, OMIM:614458]
synonym: "THMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614458]
xref: GARD:13571 {source="MONDO:GARD"}
xref: MEDGEN:482496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614458 {source="Orphanet:293955/e", source="MONDO:equivalentTo", source="Orphanet:293955"}
xref: Orphanet:293955 {source="OMIM:614458", source="MONDO:equivalentTo"}
xref: UMLS:C3280866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482496"}
is_a: MONDO:0000152 {source="DC-OMIM:614458", source="OMIM:614458"} ! thiamine-responsive dysfunction syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17358 {source="MONDO:mim2gene_medgen"} ! TPK1

[Term]
id: MONDO:0013762
name: lipoic acid synthetase deficiency
def: "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency]
subset: gard_rare {source="GARD:12678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401859"}
subset: orphanet_rare {source="Orphanet:401859"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HGCLAS" RELATED ABBREVIATION [OMIM:614462]
synonym: "hyperglycinemia, lactic acidosis, and seizures" RELATED [OMIM:614462]
synonym: "PDHLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614462]
synonym: "pyruvate dehydrogenase lipoic acid synthetase deficiency" RELATED [GARD:0012678, MONDO:Lexical, OMIM:614462]
xref: GARD:12678 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:401859", source="Orphanet:401859/attributed", source="Orphanet:401859/ntbt"}
xref: MEDGEN:482517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614462 {source="MONDO:equivalentTo", source="Orphanet:401859", source="Orphanet:401859/e"}
xref: Orphanet:401859 {source="MONDO:equivalentTo", source="OMIM:614462"}
xref: UMLS:C3280887 {source="MEDGEN:482517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018424 {source="MONDO:Redundant", source="Orphanet:401859"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0019169 {source="DC-OMIM:614462", source="OMIM:614462"} ! pyruvate dehydrogenase deficiency
relationship: disease_has_basis_in_disruption_of GO:0009107 ! lipoate biosynthetic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16429 {source="MONDO:mim2gene_medgen"} ! LIAS
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency" xsd:anyURI {source="GARD:0012678"}

[Term]
id: MONDO:0013763
name: Joubert syndrome 15
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP41 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS15" EXACT ABBREVIATION [DOID:0110984, MONDO:Lexical, OMIM:614464]
synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:614464]
synonym: "Joubert syndrome 15" EXACT [MONDO:Lexical, OMIM:614464]
synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:614464]
synonym: "Joubert syndrome caused by mutation in CEP41" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 15" EXACT [DOID:0110984, MONDORULE:2, OMIM:614464]
xref: DOID:0110984 {source="MONDO:equivalentTo"}
xref: GARD:15806 {source="MONDO:GARD"}
xref: MEDGEN:482527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614464 {source="DOID:0110984", source="MONDO:equivalentTo"}
xref: Orphanet:220493 {source="OMIM:614464"}
xref: Orphanet:475 {source="OMIM:614464"}
xref: UMLS:C3280897 {source="MEDGEN:482527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DC-OMIM:614464", source="DOID:0110984", source="MONDO:Redundant", source="OMIM:614464"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12370 ! CEP41
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12370 {source="MONDO:mim2gene_medgen"} ! CEP41

[Term]
id: MONDO:0013764
name: Joubert syndrome 16
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15807", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS16" EXACT ABBREVIATION [DOID:0110985, MONDO:Lexical, OMIM:614465]
synonym: "Joubert syndrome 16" EXACT [MONDO:Lexical, OMIM:614465]
synonym: "Joubert syndrome caused by mutation in TMEM138" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 16" EXACT [DOID:0110985, MONDORULE:2, OMIM:614465]
synonym: "TMEM138 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110985 {source="MONDO:equivalentTo"}
xref: GARD:15807 {source="MONDO:GARD"}
xref: MEDGEN:482536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614465 {source="DOID:0110985", source="MONDO:equivalentTo"}
xref: Orphanet:2318 {source="OMIM:614465"}
xref: UMLS:C3280906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482536"}
is_a: MONDO:0009480 {source="Orphanet:Inferred"} ! Joubert syndrome with oculorenal defect
is_a: MONDO:0018772 {source="DC-OMIM:614465", source="DOID:0110985", source="MONDO:Redundant", source="OMIM:614465"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26944 ! TMEM138
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26944 {source="MONDO:mim2gene_medgen"} ! TMEM138

[Term]
id: MONDO:0013765
name: coronary heart disease, susceptibility to, 6
def: "Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "CHDS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614466]
synonym: "coronary artery disease caused by mutation in MMP3" EXACT [MONDO:design_pattern]
synonym: "coronary heart disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:614466]
synonym: "coronary heart disease, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:614466]
synonym: "MMP3 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to coronary heart disease 6" RELATED [OMIM:614466]
xref: MEDGEN:482543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614466 {source="MONDO:equivalentTo"}
xref: UMLS:C3280913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482543"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7173 ! MMP3
intersection_of: predisposes_towards MONDO:0005010 ! coronary artery disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7173 {source="MONDO:mim2gene_medgen"} ! MMP3

[Term]
id: MONDO:0013766
name: familial cold autoinflammatory syndrome 3
def: "A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease." [Orphanet:300359]
subset: gard_rare {source="GARD:17369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300359"}
subset: orphanet_rare {source="Orphanet:300359"}
subset: rare
synonym: "antibody deficiency and immune dysregulation, PLCG2-associated" RELATED [OMIM:614468]
synonym: "FACU" EXACT ABBREVIATION [Orphanet:300359]
synonym: "familial atypical cold urticaria" EXACT [OMIM:614468, Orphanet:300359]
synonym: "familial cold autoinflammatory syndrome 3" EXACT [MONDO:Lexical, OMIM:614468]
synonym: "familial cold autoinflammatory syndrome caused by mutation in PLCG2" EXACT [MONDO:design_pattern]
synonym: "familial cold autoinflammatory syndrome type 3" EXACT [DOID:0090064, MONDORULE:1, OMIM:614468]
synonym: "familial cold urticaria with common variable immunodeficiency" EXACT [Orphanet:300359]
synonym: "FCAS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614468]
synonym: "plaid" EXACT [Orphanet:300359]
synonym: "PLCG2 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PLCG2-associated antibody deficiency and immune dysregulation" RELATED [Orphanet:300359]
xref: DOID:0090064 {source="MONDO:equivalentTo"}
xref: GARD:17369 {source="MONDO:GARD"}
xref: ICD10CM:L50.2 {source="DOID:0090064", source="Orphanet:300359", source="Orphanet:300359/attributed", source="Orphanet:300359/ntbt"}
xref: MEDGEN:482544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200455 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:614468 {source="DOID:0090064", source="MONDO:equivalentTo", source="Orphanet:300359", source="Orphanet:300359/e"}
xref: Orphanet:300359 {source="DOID:0090064", source="OMIM:614468", source="MONDO:equivalentTo"}
xref: UMLS:C3280914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482544"}
is_a: MONDO:0018768 {source="DC-OMIM:614468", source="DOID:0090064", source="MONDO:Redundant", source="OMIM:614468"} ! familial cold autoinflammatory syndrome
intersection_of: MONDO:0018768 ! familial cold autoinflammatory syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9066 ! PLCG2
relationship: excluded_subClassOf MONDO:0005492 {source="Orphanet:300359", source="https://orcid.org/0000-0001-5208-3432"} ! urticaria
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019298"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9066 {source="MONDO:mim2gene_medgen"} ! PLCG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0013767
name: autoimmune lymphoproliferative syndrome type 4
def: "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." [Orphanet:268114]
subset: gard_rare {source="GARD:17262", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268114"}
subset: orphanet_rare {source="Orphanet:268114"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALPS type 4" EXACT [DOID:0110117, Orphanet:268114]
synonym: "ALPS type IV" EXACT [DOID:0110117, Orphanet:268114]
synonym: "ALPS4" EXACT ABBREVIATION [DOID:0110117]
synonym: "autoimmune lymphoproliferative syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern]
synonym: "autoimmune lymphoproliferative syndrome type 4" EXACT [Orphanet:268114]
synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [DOID:0110117, Orphanet:268114]
synonym: "autoimmune lymphoproliferative syndrome, type 4" RELATED [OMIM:614470]
synonym: "NRAS autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RALD" EXACT ABBREVIATION [DOID:0110117, MONDO:Lexical, OMIM:614470, Orphanet:268114]
synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [DOID:0110117]
synonym: "RAS-associated autoimmune leukoproliferative disorder" EXACT [DOID:0110117, MONDO:Lexical, OMIM:614470]
synonym: "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" EXACT [OMIM:614470, OMIM:genemap2]
xref: DOID:0110117 {source="MONDO:equivalentTo"}
xref: GARD:17262 {source="MONDO:GARD"}
xref: ICD10CM:D72.8 {source="Orphanet:268114/attributed", source="Orphanet:268114/ntbt", source="DOID:0110117", source="Orphanet:268114"}
xref: MEDGEN:382434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614470 {source="DOID:0110117", source="Orphanet:268114", source="MONDO:equivalentTo", source="Orphanet:268114/e"}
xref: Orphanet:268114 {source="DOID:0110117", source="MONDO:equivalentTo", source="OMIM:614470"}
xref: SCTID:723508002 {source="MONDO:equivalentTo"}
xref: UMLS:C2674723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382434"}
is_a: MONDO:0017979 {source="DC-OMIM:614470", source="DOID:0110117", source="MONDO:Redundant"} ! autoimmune lymphoproliferative syndrome
intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 ! NRAS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 {source="MONDO:mim2gene_medgen"} ! NRAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013768
name: arterial calcification, generalized, of infancy, 2
def: "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ABCC6 arterial calcification of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "arterial calcification of infancy caused by mutation in ABCC6" EXACT [MONDO:design_pattern]
synonym: "arterial calcification, generalized, of infancy, 2" EXACT [MONDO:Lexical, OMIM:614473]
synonym: "arterial calcification, generalized, of infancy, type 2" EXACT [MONDORULE:1, OMIM:614473]
synonym: "GACI2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614473]
xref: MEDGEN:477791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614473 {source="MONDO:equivalentTo"}
xref: Orphanet:51608 {source="OMIM:614473"}
xref: UMLS:C3276161 {source="MEDGEN:477791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018870 {source="DC-OMIM:614473", source="MONDO:Redundant", source="OMIM:614473"} ! arterial calcification of infancy
intersection_of: MONDO:0018870 ! arterial calcification of infancy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 ! ABCC6
relationship: excluded_subClassOf MONDO:0018910 {source="https://orcid.org/0000-0001-5208-3432"} ! oculocutaneous albinism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 {source="MONDO:mim2gene_medgen"} ! ABCC6

[Term]
id: MONDO:0013769
name: atrioventricular septal defect 5
def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "atrioventricular septal defect 5" EXACT [MONDO:Lexical, OMIM:614474]
synonym: "atrioventricular septal defect caused by mutation in GATA6" EXACT [MONDO:design_pattern]
synonym: "atrioventricular septal defect type 5" EXACT [MONDORULE:1, OMIM:614474]
synonym: "AVSD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614474]
synonym: "GATA6 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:482569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614474 {source="MONDO:equivalentTo"}
xref: Orphanet:98722 {source="OMIM:614474"}
xref: UMLS:C3280939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482569"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0020290 {source="DC-OMIM:614474", source="MONDO:Redundant", source="OMIM:614474"} ! familial atrioventricular septal defect
is_a: MONDO:0100540 {source="https://clinicalgenome.org/affiliation/40130/"} ! GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
intersection_of: MONDO:0020290 ! familial atrioventricular septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 ! GATA6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 {source="MONDO:mim2gene_medgen"} ! GATA6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7218" xsd:anyURI

[Term]
id: MONDO:0013770
name: atrial septal defect 9
def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ASD9" EXACT ABBREVIATION [DOID:0110114, MONDO:Lexical, OMIM:614475]
synonym: "atrial heart septal defect caused by mutation in GATA6" EXACT [MONDO:design_pattern]
synonym: "atrial heart septal defect type 9" EXACT [DOID:0110114, MONDORULE:1]
synonym: "atrial septal defect 9" EXACT [DOID:0110114, MONDO:Lexical, OMIM:614475]
synonym: "atrial septal defect type 9" EXACT [MONDORULE:1, OMIM:614475]
synonym: "GATA6 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110114 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q21.1 {source="DOID:0110114"}
xref: MEDGEN:482573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614475 {source="MONDO:equivalentTo", source="DOID:0110114"}
xref: Orphanet:1478 {source="OMIM:614475"}
xref: UMLS:C3280943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482573"}
is_a: MONDO:0006664 {source="DC-OMIM:614475", source="DOID:0110114", source="MONDO:Redundant", source="OMIM:614475"} ! atrial septal defect
is_a: MONDO:0100540 {source="https://clinicalgenome.org/affiliation/40130/"} ! GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
intersection_of: MONDO:0006664 ! atrial septal defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 ! GATA6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 {source="MONDO:mim2gene_medgen"} ! GATA6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7218" xsd:anyURI

[Term]
id: MONDO:0013771
name: transient infantile hypertriglyceridemia and hepatosteatosis
subset: gard_rare {source="GARD:17363", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300293"}
subset: orphanet_rare {source="Orphanet:300293"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HTGTI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614480]
synonym: "hypertriglyceridemia, transient infantile" RELATED [MONDO:Lexical, OMIM:614480]
synonym: "transient infantile hypertriglyceridemia and fatty liver" EXACT [Orphanet:300293]
synonym: "transient infantile hypertriglyceridemia and hepatosteatosis" EXACT CLINGEN_LABEL []
xref: GARD:17363 {source="MONDO:GARD"}
xref: MEDGEN:482583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614480 {source="Orphanet:300293/e", source="MONDO:equivalentTo", source="Orphanet:300293"}
xref: Orphanet:300293 {source="MONDO:equivalentTo", source="OMIM:614480"}
xref: UMLS:C3280953 {source="MEDGEN:482583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005154 {source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0000-0002-5002-8648"} ! liver disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4455 {source="MONDO:mim2gene_medgen"} ! GPD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013772
name: Huppke-Brendel syndrome
subset: gard_rare {source="GARD:17365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300313"}
subset: orphanet_rare {source="Orphanet:300313"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acetyl CoA transporter deficiency" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40097/]
synonym: "CCHLND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614482]
synonym: "congenital cataract-deafness-severe developmental delay syndrome" EXACT [Orphanet:300313]
synonym: "congenital cataracts, hearing loss, and neurodegeneration" EXACT [MONDO:Lexical, OMIM:614482]
synonym: "Huppke-Brendel syndrome" EXACT [OMIM:614482]
synonym: "lethal neurodegenerative disorder due to copper transport defect" EXACT [Orphanet:300313]
xref: GARD:17365 {source="MONDO:GARD"}
xref: MEDGEN:482595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614482 {source="Orphanet:300313", source="MONDO:equivalentTo", source="Orphanet:300313/e"}
xref: Orphanet:300313 {source="MONDO:equivalentTo", source="OMIM:614482"}
xref: UMLS:C3280965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482595"}
is_a: MONDO:0003847 {source="OMIM:614482"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/95 {source="MONDO:mim2gene_medgen"} ! SLC33A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6765#issuecomment-1797800311" xsd:anyURI

[Term]
id: MONDO:0013773
name: porencephaly 2
def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15808", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "brain small vessel disease 2" EXACT [OMIM:614483, OMIM:genemap2]
synonym: "COL4A2 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "POREN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614483]
synonym: "porencephaly 2" EXACT [MONDO:Lexical, OMIM:614483]
synonym: "porencephaly caused by mutation in COL4A2" EXACT [MONDO:design_pattern]
synonym: "porencephaly type 2" EXACT [MONDORULE:1, OMIM:614483]
xref: DOID:0112314 {source="MONDO:equivalentTo"}
xref: GARD:15808 {source="MONDO:GARD"}
xref: MEDGEN:482600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614483 {source="MONDO:equivalentTo"}
xref: Orphanet:2940 {source="OMIM:614483"}
xref: Orphanet:99810 {source="OMIM:614483"}
xref: UMLS:C3280970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482600"}
is_a: MONDO:0020496 {source="OMIM:614483", source="Orphanet:99810/btnt"} ! familial porencephaly
intersection_of: MONDO:0020496 ! familial porencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2203 ! COL4A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2203 {source="MONDO:mim2gene_medgen"} ! COL4A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013774
name: trigonocephaly 2
def: "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "craniosynostosis, metopic" RELATED [OMIM:614485]
synonym: "FREM1 isolated trigonocephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated trigonocephaly caused by mutation in FREM1" EXACT [MONDO:design_pattern]
synonym: "TRIGNO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614485]
synonym: "trigonocephaly 2" EXACT [MONDO:Lexical, OMIM:614485]
synonym: "trigonocephaly type 2" EXACT [MONDORULE:1, OMIM:614485]
xref: GARD:18559 {source="MONDO:GARD"}
xref: MEDGEN:482604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614485 {source="MONDO:equivalentTo"}
xref: Orphanet:3366 {source="OMIM:614485"}
xref: UMLS:C3280974 {source="MEDGEN:482604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000156 {source="MONDO:Redundant", source="OMIM:614485"} ! trigonocephaly
is_a: MONDO:0018065 {source="MONDO:Redundant", source="Orphanet:3366/btnt"} ! isolated trigonocephaly
intersection_of: MONDO:0018065 ! isolated trigonocephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 ! FREM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 {source="MONDO:mim2gene_medgen"} ! FREM1

[Term]
id: MONDO:0013775
name: thrombomodulin-related bleeding disorder
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17726", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436169"}
subset: orphanet_rare {source="Orphanet:436169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "THBD-related bleeding disorder" EXACT [Orphanet:436169]
synonym: "THBD-related coagulopathy" EXACT [Orphanet:436169]
synonym: "THPH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614486]
synonym: "thrombomodulin-related coagulopathy" EXACT [Orphanet:436169]
synonym: "thrombophilia 12 due to thrombomodulin defect" EXACT [OMIM:614486, OMIM:genemap2]
synonym: "thrombophilia due to thrombomodulin defect" RELATED [MONDO:Lexical, OMIM:614486]
xref: DOID:0111908 {source="MONDO:equivalentTo"}
xref: GARD:17726 {source="MONDO:GARD"}
xref: ICD10CM:D68.3 {source="Orphanet:436169/attributed", source="Orphanet:436169/ntbt", source="Orphanet:436169"}
xref: MEDGEN:482606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566057 {source="MONDO:equivalentTo"}
xref: OMIM:614486 {source="Orphanet:436169/e", source="MONDO:equivalentTo", source="Orphanet:436169"}
xref: Orphanet:436169 {source="MONDO:equivalentTo"}
xref: UMLS:C3280976 {source="MEDGEN:482606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
is_a: MONDO:0100240 {source="DC-OMIM:614486", source="MESH:C566057", source="OMIM:614486"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11784 {source="MONDO:mim2gene_medgen"} ! THBD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013776
name: spastic ataxia 5
def: "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." [Orphanet:313772]
subset: gard_rare {source="GARD:17409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313772"}
subset: orphanet_rare {source="Orphanet:313772"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AFG3L2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT [Orphanet:313772]
synonym: "AFG3L2-related spastic ataxia-neuropathy syndrome" EXACT [Orphanet:313772]
synonym: "autosomal recessive spastic ataxia caused by mutation in AFG3L2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic ataxia type 5" EXACT [Orphanet:313772]
synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" RELATED [Orphanet:313772]
synonym: "spastic ataxia 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614487]
synonym: "spastic ataxia type 5" EXACT [DOID:0050944, MONDORULE:1]
synonym: "SPAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614487, Orphanet:313772]
xref: DOID:0050944 {source="MONDO:equivalentTo"}
xref: GARD:17409 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:313772/attributed", source="Orphanet:313772/ntbt", source="Orphanet:313772"}
xref: MEDGEN:482607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614487 {source="Orphanet:313772/e", source="MONDO:equivalentTo", source="DOID:0050944", source="Orphanet:313772"}
xref: Orphanet:313772 {source="OMIM:614487", source="MONDO:equivalentTo"}
xref: UMLS:C3280977 {source="MEDGEN:482607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017845 {source="DOID:0050944", source="MONDO:Redundant", source="OMIM:614487", source="Orphanet:313772/inferred"} ! spastic ataxia
is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:313772"} ! autosomal recessive spastic ataxia
is_a: MONDO:0018158 {source="Orphanet:313772"} ! mitochondrial DNA depletion syndrome
intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 ! AFG3L2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 {source="MONDO:mim2gene_medgen"} ! AFG3L2

[Term]
id: MONDO:0013777
name: pseudohypoaldosteronism type 2B
def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16776", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:88939"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88939"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHA2B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614491, Orphanet:88939]
synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK4" EXACT [MONDO:design_pattern]
synonym: "pseudohypoaldosteronism, type 2B" RELATED [OMIM:614491]
synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical, OMIM:614491]
synonym: "WNK4 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16776 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:88939", source="Orphanet:88939/attributed", source="Orphanet:88939/ntbt"}
xref: MEDGEN:374457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564161 {source="MONDO:equivalentTo"}
xref: OMIM:614491 {source="Orphanet:88939/e", source="MONDO:equivalentTo", source="Orphanet:88939"}
xref: Orphanet:757 {source="OMIM:614491"}
xref: Orphanet:88939 {source="MONDO:equivalentTo", source="OMIM:614491"}
xref: UMLS:C1840390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374457"}
is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614491", source="Orphanet:88939"} ! pseudohypoaldosteronism type 2
intersection_of: MONDO:0019162 ! pseudohypoaldosteronism type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14544 ! WNK4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14544 {source="MONDO:mim2gene_medgen"} ! WNK4

[Term]
id: MONDO:0013778
name: pseudohypoaldosteronism type 2C
def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:88940"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88940"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHA2C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614492, Orphanet:88940]
synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK1" EXACT [MONDO:design_pattern]
synonym: "pseudohypoaldosteronism, type 2C" RELATED [OMIM:614492]
synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical, OMIM:614492]
synonym: "WNK1 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16777 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:88940", source="Orphanet:88940/attributed", source="Orphanet:88940/ntbt"}
xref: MEDGEN:327089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564162 {source="MONDO:equivalentTo"}
xref: OMIM:614492 {source="Orphanet:88940", source="MONDO:equivalentTo", source="Orphanet:88940/e"}
xref: Orphanet:757 {source="OMIM:614492"}
xref: Orphanet:88940 {source="MONDO:equivalentTo", source="OMIM:614492"}
xref: UMLS:C1840391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:327089"}
is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614492", source="Orphanet:88940"} ! pseudohypoaldosteronism type 2
intersection_of: MONDO:0019162 ! pseudohypoaldosteronism type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14540 ! WNK1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14540 {source="MONDO:mim2gene_medgen"} ! WNK1

[Term]
id: MONDO:0013779
name: Wiskott-Aldrich syndrome 2
def: "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15809", source="MONDO:GARD"}
subset: rare
synonym: "WAS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614493]
synonym: "Wipf1 deficiency" RELATED [OMIM:614493]
synonym: "WIPF1 Wiskott-Aldrich syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Wiskott-Aldrich syndrome 2" EXACT [MONDO:Lexical, OMIM:614493]
synonym: "Wiskott-Aldrich syndrome caused by mutation in WIPF1" EXACT [MONDO:design_pattern]
synonym: "Wiskott-Aldrich syndrome type 2" EXACT [MONDORULE:1, OMIM:614493]
xref: GARD:15809 {source="MONDO:GARD"}
xref: MEDGEN:482631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176820 {source="MONDO:equivalentTo"}
xref: OMIM:277970 {source="MONDO:equivalentObsolete"}
xref: OMIM:614493 {source="MONDO:equivalentTo"}
xref: Orphanet:906 {source="OMIM:614493"}
xref: UMLS:C3281001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482631"}
is_a: MONDO:0021094 {source="MONDO:Redundant", source="Orphanet:906/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12736 {source="MONDO:mim2gene_medgen", source="OMIM:614493"} ! WIPF1

[Term]
id: MONDO:0013780
name: retinitis pigmentosa 63
def: "A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23." [DOID:0110385, PMID:22083234]
subset: gard_rare {source="GARD:15810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 63" EXACT [MONDO:Lexical, OMIM:614494]
synonym: "retinitis pigmentosa type 63" EXACT [DOID:0110385, MONDORULE:2]
synonym: "RP63" EXACT ABBREVIATION [DOID:0110385, MONDO:Lexical, OMIM:614494]
xref: DOID:0110385 {source="MONDO:equivalentTo"}
xref: GARD:15810 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110385"}
xref: MEDGEN:482632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614494 {source="MONDO:equivalentTo", source="DOID:0110385"}
xref: Orphanet:791 {source="OMIM:614494"}
xref: UMLS:C3281002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482632"}
is_a: MONDO:0019200 {source="DC-OMIM:614494", source="DOID:0110385", source="OMIM:614494"} ! retinitis pigmentosa

[Term]
id: MONDO:0013781
name: pseudohypoaldosteronism type 2D
def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:300525"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:300525"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hyperkalemic hypertension" RELATED [OMIM:614495]
synonym: "KLHL3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHA2D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614495, Orphanet:300525]
synonym: "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" EXACT [MONDO:design_pattern]
synonym: "pseudohypoaldosteronism, type 2D" RELATED [OMIM:614495]
synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical, OMIM:614495]
xref: GARD:17372 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:300525", source="Orphanet:300525/attributed", source="Orphanet:300525/ntbt"}
xref: MEDGEN:483335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614495 {source="MONDO:equivalentTo", source="Orphanet:300525", source="Orphanet:300525/e"}
xref: Orphanet:300525 {source="MONDO:equivalentTo", source="OMIM:614495"}
xref: Orphanet:757 {source="OMIM:614495"}
xref: UMLS:C3469605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483335"}
is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614495", source="Orphanet:300525"} ! pseudohypoaldosteronism type 2
intersection_of: MONDO:0019162 ! pseudohypoaldosteronism type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6354 ! KLHL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6354 {source="MONDO:mim2gene_medgen"} ! KLHL3

[Term]
id: MONDO:0013782
name: pseudohypoaldosteronism type 2E
def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:300530"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:300530"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CUL3 pseudohypoaldosteronism type 2" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Cul3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern]
synonym: "PHA2E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614496, Orphanet:300530]
synonym: "pseudohypoaldosteronism type 2 caused by mutation in CUL3" EXACT []
synonym: "pseudohypoaldosteronism type 2 caused by mutation in Cul3" EXACT [MONDO:design_pattern]
synonym: "pseudohypoaldosteronism, type 2E" RELATED [OMIM:614496]
synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical, OMIM:614496]
xref: GARD:17373 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:300530", source="Orphanet:300530/attributed", source="Orphanet:300530/ntbt"}
xref: MEDGEN:483336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614496 {source="Orphanet:300530", source="MONDO:equivalentTo", source="Orphanet:300530/e"}
xref: Orphanet:300530 {source="MONDO:equivalentTo", source="OMIM:614496"}
xref: Orphanet:757 {source="OMIM:614496"}
xref: UMLS:C3469606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483336"}
is_a: MONDO:0019162 {source="MONDO:Redundant", source="OMIM:614496", source="Orphanet:300530"} ! pseudohypoaldosteronism type 2
intersection_of: MONDO:0019162 ! pseudohypoaldosteronism type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2553 ! CUL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2553 {source="MONDO:mim2gene_medgen"} ! CUL3

[Term]
id: MONDO:0013783
name: microphthalmia, isolated, with coloboma 7
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15811", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ABCB6 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCOPCB7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614497]
synonym: "microphthalmia, isolated, with coloboma 7" EXACT [MONDO:Lexical, OMIM:614497]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in ABCB6" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 7" EXACT [MONDORULE:1, OMIM:614497]
xref: GARD:15811 {source="MONDO:GARD"}
xref: MEDGEN:482657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614497 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:614497"}
xref: UMLS:C3281027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482657"}
is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:614497", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma
intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 ! ABCB6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 {source="MONDO:mim2gene_medgen"} ! ABCB6

[Term]
id: MONDO:0013784
name: neonatal-onset encephalopathy with rigidity and seizures
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17718", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435845"}
subset: ordo_malformation_syndrome {source="Orphanet:435845"}
subset: orphanet_rare {source="Orphanet:435845"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lethal neonatal rigidity-multifocal seizure syndrome" EXACT [Orphanet:435845]
synonym: "lethal neonatal spasticity-epileptic encephalopathy syndrome" EXACT [Orphanet:435845]
synonym: "neonatal-onset encephalopathy with rigidity and seizures" EXACT CLINGEN_LABEL []
synonym: "rigidity and multifocal seizure syndrome, lethal neonatal" RELATED [MONDO:Lexical, OMIM:614498]
synonym: "RMFSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614498]
xref: GARD:17718 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:435845/attributed", source="Orphanet:435845/ntbt", source="Orphanet:435845"}
xref: MEDGEN:482659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614498 {source="Orphanet:435845", source="MONDO:equivalentTo", source="Orphanet:435845/e"}
xref: Orphanet:435845 {source="MONDO:equivalentTo"}
xref: UMLS:C3281029 {source="MEDGEN:482659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015653 {source="EFO:0009144", source="Orphanet:435845"} ! monogenic epilepsy
is_a: MONDO:0100062 {source="https://orcid.org/0000-0001-5751-2224"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21701 {source="MONDO:mim2gene_medgen"} ! BRAT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5125" xsd:anyURI

[Term]
id: MONDO:0013785
name: intellectual disability, autosomal recessive 34
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22563", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD" EXACT [MONDO:design_pattern]
synonym: "CRADD autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly" EXACT [OMIM:614499, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 34" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614499]
synonym: "intellectual disability, autosomal recessive 34, with variant lissencephaly" RELATED [OMIM:614499]
synonym: "intellectual disability, autosomal recessive type 34" EXACT [MONDORULE:2, OMIM:614499]
synonym: "mental retardation, autosomal recessive 34" RELATED DEPRECATED [MONDO:Lexical, OMIM:614499]
synonym: "mental retardation, autosomal recessive 34, with variant lissencephaly" RELATED DEPRECATED [OMIM:614499]
synonym: "mental retardation, autosomal recessive type 34" EXACT DEPRECATED [MONDORULE:2, OMIM:614499]
synonym: "MRT34" RELATED DEPRECATED [MONDO:Lexical, OMIM:614499]
xref: DOID:0081200 {source="MONDO:equivalentTo"}
xref: GARD:22563 {source="MONDO:GARD"}
xref: MEDGEN:482674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C153179 {source="MONDO:equivalentTo"}
xref: OMIM:614499 {source="MONDO:equivalentTo"}
xref: UMLS:C3281044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482674"}
is_a: MONDO:0019502 {source="DC-OMIM:614499", source="MONDO:Redundant", source="OMIM:614499"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2340 ! CRADD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2340 {source="MONDO:mim2gene_medgen"} ! CRADD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013786
name: cone-rod dystrophy 16
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15812", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "C8orf37 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cone-rod dystrophy 16" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614500]
synonym: "cone-rod dystrophy caused by mutation in C8orf37" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 16" EXACT [DOID:0111022, MONDORULE:2, OMIM:614500]
synonym: "CORD16" EXACT ABBREVIATION [DOID:0111022, MONDO:Lexical, OMIM:614500]
synonym: "retinal dystrophy with early macular involvement" EXACT [DOID:0111022]
synonym: "retinitis pigmentosa 64" RELATED [OMIM:614500]
xref: DOID:0111022 {source="MONDO:equivalentTo"}
xref: GARD:15812 {source="MONDO:GARD"}
xref: MEDGEN:482675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614500 {source="MONDO:equivalentTo", source="DOID:0111022"}
xref: UMLS:C3281045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482675"}
is_a: MONDO:0015993 {source="DC-OMIM:614500", source="DOID:0111022", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0019200 {source="DC-OMIM:614500", source="OMIM:614500"} ! retinitis pigmentosa
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27232 ! CFAP418
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27232 {source="MONDO:mim2gene_medgen"} ! CFAP418

[Term]
id: MONDO:0013787
name: psychomotor retardation, epilepsy, and craniofacial dysmorphism
synonym: "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" EXACT [OMIM:614501, OMIM:genemap2]
synonym: "PMRED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614501]
synonym: "psychomotor retardation, epilepsy, and craniofacial dysmorphism" EXACT [MONDO:Lexical, OMIM:614501]
xref: MEDGEN:482685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614501 {source="MONDO:equivalentTo"}
xref: UMLS:C3281055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482685"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30587 {source="MONDO:mim2gene_medgen"} ! SNIP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013788
name: Usher syndrome type 3B
def: "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HARS Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "USH3B" EXACT ABBREVIATION [DOID:0110842, MONDO:Lexical, OMIM:614504]
synonym: "Usher syndrome caused by mutation in HARS" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type IIIB" EXACT [DOID:0110842]
synonym: "Usher syndrome, type 3B" RELATED [OMIM:614504]
synonym: "USHER syndrome, type IIIB" RELATED [MONDO:Lexical, OMIM:614504]
xref: DOID:0110842 {source="MONDO:equivalentTo"}
xref: GARD:15813 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110842", source="MONDO:relatedTo"}
xref: MEDGEN:482696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614504 {source="DOID:0110842", source="MONDO:equivalentTo"}
xref: Orphanet:231183 {source="OMIM:614504"}
xref: Orphanet:886 {source="OMIM:614504"}
xref: UMLS:C3281066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482696"}
is_a: MONDO:0016485 {source="DOID:0110842"} ! Usher syndrome type 3
is_a: MONDO:0019501 {source="DOID:0110842/inferred", source="MONDO:Redundant", source="OMIM:614504"} ! Usher syndrome
intersection_of: MONDO:0019501 ! Usher syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4816 ! HARS1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614504"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4816 {source="MONDO:mim2gene_medgen"} ! HARS1

[Term]
id: MONDO:0013789
name: DDOST-congenital disorder of glycosylation
def: "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)." [Orphanet:300536]
subset: gard_rare {source="GARD:12398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300536"}
subset: orphanet_rare {source="Orphanet:300536"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type" RELATED [GARD:0012398]
synonym: "carbohydrate deficient glycoprotein syndrome type Ir" EXACT [Orphanet:300536]
synonym: "CDG syndrome type Ir" EXACT [Orphanet:300536]
synonym: "CDG-Ir" EXACT [Orphanet:300536]
synonym: "CDG1R" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614507, Orphanet:300536]
synonym: "congenital disorder of glycosylation type 1r" EXACT [Orphanet:300536]
synonym: "congenital disorder of glycosylation type Ir" EXACT [Orphanet:300536]
synonym: "congenital disorder of glycosylation, type Ir" RELATED [MONDO:Lexical, OMIM:614507]
synonym: "DDOST-CDG" EXACT ABBREVIATION [Orphanet:300536]
synonym: "DDOST-CDG (CDG-Ir)" RELATED [GARD:0012398]
synonym: "DDOST-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0080569 {source="MONDO:equivalentTo"}
xref: GARD:12398 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:300536", source="Orphanet:300536/attributed", source="Orphanet:300536/ntbt"}
xref: MEDGEN:482714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614507 {source="MONDO:equivalentTo", source="Orphanet:300536", source="Orphanet:300536/e"}
xref: Orphanet:300536 {source="MONDO:equivalentTo", source="OMIM:614507"}
xref: SCTID:733083006 {source="MONDO:equivalentTo"}
xref: UMLS:C3281084 {source="MEDGEN:482714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:614507"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MONDO:0013789/inferred", source="MONDO:Redundant", source="OMIM:614507", source="Orphanet:300536/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:300536"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2728 {source="MONDO:mim2gene_medgen"} ! DDOST

[Term]
id: MONDO:0013790
name: mirror movements 2
def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15814", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial congenital mirror movements caused by mutation in RAD51" EXACT [MONDO:design_pattern]
synonym: "mirror movements 2" EXACT [MONDO:Lexical, OMIM:614508]
synonym: "mirror movements type 2" EXACT [MONDORULE:1, OMIM:614508]
synonym: "MRMV2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614508]
synonym: "RAD51 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15814 {source="MONDO:GARD"}
xref: MEDGEN:482719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614508 {source="MONDO:equivalentTo"}
xref: Orphanet:238722 {source="OMIM:614508"}
xref: UMLS:C3281089 {source="MONDO:equivalentTo", source="MEDGEN:482719", source="MONDO:MEDGEN"}
is_a: MONDO:0016558 {source="DC-OMIM:614508", source="MONDO:Redundant", source="OMIM:614508", source="Orphanet:238722/btnt"} ! familial congenital mirror movements
intersection_of: MONDO:0016558 ! familial congenital mirror movements
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9817 ! RAD51
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9817 {source="MONDO:mim2gene_medgen"} ! RAD51

[Term]
id: MONDO:0013791
name: thrombophilia due to protein S deficiency, autosomal recessive
subset: gard_rare {source="GARD:18569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "THPH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614514]
synonym: "thrombophilia 5 due to protein S deficiency, autosomal recessive" EXACT [OMIM:614514, OMIM:genemap2]
synonym: "thrombophilia due to PROTEIN S deficiency, autosomal recessive" RELATED [OMIM:614514]
synonym: "thrombophilia due to protein S deficiency, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614514]
xref: GARD:18569 {source="MONDO:GARD"}
xref: MEDGEN:482722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614514 {source="MONDO:equivalentTo"}
xref: Orphanet:743 {source="OMIM:614514"}
xref: UMLS:C3281092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482722"}
is_a: MONDO:0019144 {source="Orphanet:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency
is_a: MONDO:0100240 {source="MONDO:Redundant", source="OMIM:614514"} ! inherited thrombophilia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9456 {source="MONDO:mim2gene_medgen"} ! PROS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013792
name: intracerebral hemorrhage
def: "Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma." [MESH:D002543]
subset: otar {source="MONDO:OTAR"}
synonym: "stroke, hemorrhagic" EXACT [OMIM:614519, OMIM:genemap2]
xref: EFO:0005669 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:431 {source="EFO:0005669"}
xref: MEDGEN:423648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002543 {source="MONDO:equivalentTo"}
xref: SCTID:274100004 {source="MONDO:equivalentTo"}
xref: UMLS:C2937358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423648"}
is_a: MONDO:0011057 ! cerebrovascular disorder
relationship: disease_has_location UBERON:0003499 ! brain blood vessel
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7038" xsd:anyURI

[Term]
id: MONDO:0013793
name: encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
synonym: "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" EXACT [OMIM:614520]
xref: MEDGEN:482736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614520 {source="MONDO:equivalentTo"}
xref: UMLS:C3281106 {source="MEDGEN:482736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013794
name: thrombocythemia 3
def: "Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial thrombocytosis caused by mutation in JAK2" EXACT [MONDO:design_pattern]
synonym: "JAK2 familial thrombocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THCYT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614521]
synonym: "thrombocythemia 3" EXACT [MONDO:Lexical, OMIM:614521]
synonym: "thrombocythemia 3, autosomal dominant, somatic mutation" EXACT [OMIM:614521, OMIM:genemap2]
synonym: "thrombocythemia type 3" EXACT [MONDORULE:1, OMIM:614521]
synonym: "thrombocytosis 3" RELATED [OMIM:614521]
xref: MEDGEN:482755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614521 {source="MONDO:equivalentTo"}
xref: Orphanet:3318 {source="OMIM:614521"}
xref: Orphanet:71493 {source="OMIM:614521", source="MONDO:directSiblingOf"}
xref: UMLS:C3281125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482755"}
is_a: MONDO:0002249 {source="DC-OMIM:614521"} ! thrombocytosis disease
is_a: MONDO:0019111 {source="OMIMPS:187950"} ! familial thrombocytosis
relationship: excluded_subClassOf MONDO:0005029 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! essential thrombocythemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6192 {source="MONDO:mim2gene_medgen"} ! JAK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013795
name: fibrochondrogenesis 2
def: "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COL11A2 fibrochondrogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FBCG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614524]
synonym: "fibrochondrogenesis 2" EXACT [MONDO:Lexical, OMIM:614524]
synonym: "fibrochondrogenesis caused by mutation in COL11A2" EXACT [MONDO:design_pattern]
synonym: "fibrochondrogenesis type 2" EXACT [MONDORULE:1, OMIM:614524]
xref: DOID:0080673 {source="MONDO:equivalentTo"}
xref: GARD:15815 {source="MONDO:GARD"}
xref: MEDGEN:482758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614524 {source="MONDO:equivalentTo"}
xref: Orphanet:2021 {source="OMIM:614524"}
xref: UMLS:C3281128 {source="MEDGEN:482758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016068 {source="DC-OMIM:614524", source="MONDO:Redundant", source="OMIM:614524"} ! fibrochondrogenesis
intersection_of: MONDO:0016068 ! fibrochondrogenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 ! COL11A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013796
name: chromosome 17q12 duplication syndrome
def: "17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia." [Orphanet:261272]
subset: gard_rare {source="GARD:13296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261272"}
subset: ordo_malformation_syndrome {source="Orphanet:261272"}
subset: orphanet_rare {source="Orphanet:261272"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17q12 duplication" RELATED [GARD:0013296]
synonym: "17q12 microduplication" RELATED [GARD:0013296]
synonym: "17q12 microduplication syndrome" EXACT [DOID:0060433]
synonym: "chromosome 17q12 duplication syndrome" EXACT [OMIM:614526]
synonym: "dup(17)(q12)" EXACT [Orphanet:261272]
synonym: "recurrent duplication of 17q12" RELATED [GARD:0013296]
synonym: "trisomy 17q12" EXACT [DOID:0060433, Orphanet:261272]
xref: DOID:0060433 {source="MONDO:equivalentTo"}
xref: GARD:13296 {source="MONDO:GARD"}
xref: MEDGEN:482767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614526 {source="Orphanet:261272", source="DOID:0060433", source="MONDO:equivalentTo", source="Orphanet:261272/e"}
xref: Orphanet:261272 {source="DOID:0060433", source="MONDO:equivalentTo", source="OMIM:614526"}
xref: SCTID:764435003 {source="MONDO:equivalentTo"}
xref: UMLS:C3281137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482767"}
is_a: MONDO:0000762 {source="DC-OMIM:614526", source="DOID:0060433"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016967 {source="Orphanet:261272"} ! partial duplication of the long arm of chromosome 17
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr17q12 ! 17q12 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0013797
name: chromosome 17q12 deletion syndrome
def: "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported." [Orphanet:261265]
subset: gard_rare {source="GARD:13297", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261265"}
subset: ordo_malformation_syndrome {source="Orphanet:261265"}
subset: orphanet_rare {source="Orphanet:261265"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17q12 deletion syndrome" RELATED [GARD:0013297]
synonym: "17q12 microdeletion syndrome" EXACT [DOID:0060404]
synonym: "17q12 recurrent deletion syndrome" RELATED [GARD:0013297]
synonym: "chromosome 17q12 deletion syndrome" EXACT [OMIM:614527]
synonym: "Del(17)(q12)" EXACT [Orphanet:261265]
synonym: "monosomy 17q12" EXACT [Orphanet:261265]
xref: DOID:0060404 {source="MONDO:equivalentTo"}
xref: GARD:13297 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261265", source="DOID:0060404", source="Orphanet:261265/attributed", source="Orphanet:261265/ntbt"}
xref: MEDGEN:482768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614527 {source="MONDO:equivalentTo", source="Orphanet:261265", source="DOID:0060404", source="Orphanet:261265/e"}
xref: Orphanet:261265 {source="MONDO:equivalentTo", source="DOID:0060404", source="OMIM:614527"}
xref: SCTID:733519008 {source="MONDO:equivalentTo"}
xref: UMLS:C3281138 {source="MEDGEN:482768", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:614527", source="DOID:0060404"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016915 {source="Orphanet:261265"} ! partial deletion of the long arm of chromosome 17
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr17q12 ! 17q12 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0013798
name: chromosome 16q22 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:658540"}
subset: orphanet_rare {source="Orphanet:658540"}
subset: rare
synonym: "chromosome 16q22 deletion syndrome" EXACT [OMIM:614541]
synonym: "chromosome 16q22 deletion syndrome, isolated cases" EXACT [OMIM:614541, OMIM:genemap2]
xref: DOID:0060401 {source="MONDO:equivalentTo"}
xref: MEDGEN:482782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614541 {source="MONDO:equivalentTo", source="DOID:0060401"}
xref: Orphanet:658540 {source="MONDO:equivalentTo"}
xref: UMLS:C3281152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482782"}
is_a: MONDO:0000761 {source="DC-OMIM:614541", source="DOID:0060401"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015159 {source="Orphanet:658540", source="https://orcid.org/0000-0002-4142-7153"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016914 {source="Orphanet:658540", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 16
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16q22 ! 16q22 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013799
name: obsolete efavirenz, poor metabolism of
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "efavirenz central nervous system toxicity, susceptibility to" RELATED [OMIM:614546]
synonym: "efavirenz, poor metabolism of" EXACT [OMIM:614546]
xref: OMIM:614546 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:240869 {source="OMIM:614546"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0013800
name: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
def: "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." [Orphanet:300179]
subset: gard_rare {source="GARD:17361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:300179"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179]
synonym: "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [Orphanet:300179]
synonym: "EDS, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179]
synonym: "EDSKMH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614557]
synonym: "EDSKSCL2" RELATED ABBREVIATION [OMIM:614557]
synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179]
synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [MONDO:Lexical, OMIM:614557, Orphanet:300179]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" EXACT CLINGEN_LABEL []
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" EXACT [OMIM:614557]
xref: GARD:17361 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:300179/attributed", source="Orphanet:300179/ntbt", source="Orphanet:300179"}
xref: MEDGEN:482790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614557 {source="Orphanet:300179", source="MONDO:equivalentTo", source="Orphanet:300179/e"}
xref: Orphanet:300179 {source="OMIM:614557", source="MONDO:equivalentTo"}
xref: SCTID:720859009 {source="MONDO:equivalentTo"}
xref: UMLS:C3281160 {source="MEDGEN:482790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020066 {source="OMIM:614557", source="Orphanet:300179"} ! Ehlers-Danlos syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18625 {source="MONDO:mim2gene_medgen"} ! FKBP14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4220" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7527" xsd:anyURI

[Term]
id: MONDO:0013801
name: developmental and epileptic encephalopathy, 13
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13085", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE13" EXACT ABBREVIATION [OMIM:614558]
synonym: "developmental and epileptic encephalopathy 13" EXACT [OMIM:614558, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in SCN8A" EXACT [MONDO:design_pattern]
synonym: "early infantile epileptic encephalopathy-13" EXACT [GARD:0013085]
synonym: "EIEE13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614558]
synonym: "epileptic encephalopathy, early infantile, 13" EXACT [MONDO:Lexical, OMIM:614558]
synonym: "epileptic encephalopathy, early infantile, type 13" EXACT [MONDORULE:2, OMIM:614558]
synonym: "SCN8A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCN8A encephalopathy" RELATED [GARD:0013085]
synonym: "SCN8A epilepsy" RELATED [GARD:0013085]
xref: DOID:0080445 {source="MONDO:equivalentTo"}
xref: GARD:13085 {source="MONDO:GARD"}
xref: MEDGEN:482821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614558 {source="MONDO:equivalentTo"}
xref: SCTID:765170001 {source="MONDO:equivalentTo"}
xref: UMLS:C3281191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482821"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:614558", source="MONDO:Redundant", source="OMIM:614558"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 ! SCN8A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 {source="MONDO:mim2gene_medgen"} ! SCN8A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013802
name: infantile cerebellar-retinal degeneration
def: "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms." [https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration]
subset: gard_rare {source="GARD:13264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313850"}
subset: orphanet_rare {source="Orphanet:313850"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ICRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614559]
synonym: "infantile cerebellar retinal degeneration" RELATED [GARD:0013264]
synonym: "infantile cerebellar-retinal degeneration" EXACT [MONDO:Lexical, OMIM:614559]
xref: DOID:0050883 {source="MONDO:equivalentTo"}
xref: GARD:13264 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:313850", source="Orphanet:313850/attributed", source="Orphanet:313850/ntbt"}
xref: MEDGEN:482822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614559 {source="Orphanet:313850", source="DOID:0050883", source="MONDO:equivalentTo", source="Orphanet:313850/e"}
xref: Orphanet:313850 {source="MONDO:equivalentTo", source="OMIM:614559"}
xref: UMLS:C3281192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482822"}
is_a: MONDO:0016790 {source="Orphanet:313850"} ! tricarboxylic acid cycle disorder
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:313850"} ! inherited retinal dystrophy
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:313850"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/118 {source="MONDO:mim2gene_medgen"} ! ACO2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration" xsd:anyURI {source="GARD:0013264"}

[Term]
id: MONDO:0013803
name: leukoencephalopathy with calcifications and cysts
subset: gard_rare {source="GARD:10732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:542310"}
subset: orphanet_rare {source="Orphanet:542310"}
subset: rare
synonym: "Labrune syndrome" RELATED [OMIM:614561]
synonym: "LCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614561]
synonym: "leukoencephalopathy, brain calcifications, and cysts" EXACT [MONDO:Lexical, OMIM:614561]
xref: GARD:10732 {source="MONDO:GARD"}
xref: MEDGEN:482830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000598644 {source="MONDO:equivalentTo"}
xref: OMIM:614561 {source="Orphanet:542310", source="MONDO:equivalentTo"}
xref: Orphanet:542310 {source="MONDO:equivalentTo"}
xref: UMLS:C3281200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482830"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic HP:0000007 {source="Orphanet:542310"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32952 {source="MONDO:mim2gene_medgen", source="Orphanet:542310"} ! SNORD118

[Term]
id: MONDO:0013804
name: obsolete intellectual disability, autosomal dominant 12
comment: OMIM merged these.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1709" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007617

[Term]
id: MONDO:0013805
name: intellectual disability, autosomal dominant 13
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16462", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 13" EXACT [DOID:0070043]
synonym: "autosomal dominant mental retardation 13" EXACT DEPRECATED [DOID:0070043]
synonym: "autosomal dominant non-syndromic intellectual disability 13" RELATED [DOID:0070043]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern]
synonym: "DYNC1H1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 13" EXACT [MONDO:Lexical, OMIM:614563]
synonym: "intellectual disability, autosomal dominant 13, with neuronal migration defects" EXACT [DOID:0070043]
synonym: "intellectual disability, autosomal dominant type 13" EXACT [MONDORULE:2, OMIM:614563]
synonym: "intellectual disability, autosomal dominant, 13, with neuronal migration defects" RELATED [OMIM:614563]
synonym: "mental retardation, autosomal dominant 13" RELATED DEPRECATED [MONDO:Lexical, OMIM:614563]
synonym: "mental retardation, autosomal dominant 13, with neuronal migration defects" EXACT DEPRECATED [DOID:0070043]
synonym: "mental retardation, autosomal dominant type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:614563]
synonym: "mental retardation, autosomal dominant, 13, with neuronal migration defects" RELATED DEPRECATED [OMIM:614563]
synonym: "MRD13" EXACT ABBREVIATION [DOID:0070043, MONDO:Lexical, OMIM:614563]
xref: DOID:0070043 {source="MONDO:equivalentTo"}
xref: GARD:16462 {source="MONDO:GARD"}
xref: MEDGEN:482832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614563 {source="DOID:0070043", source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="OMIM:614563"}
xref: UMLS:C3281202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482832"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614563"} ! intellectual disability, autosomal dominant
is_a: MONDO:1040031 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! dyneinopathy
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 ! DYNC1H1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1

[Term]
id: MONDO:0013806
name: familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
subset: gard_rare {source="GARD:17413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313846"}
subset: orphanet_rare {source="Orphanet:313846"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous telangiectasia and cancer syndrome, familial" RELATED [MONDO:Lexical, OMIM:614564]
synonym: "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" RELATED [Orphanet:313846]
synonym: "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" EXACT CLINGEN_LABEL []
synonym: "FCTCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614564]
synonym: "telangiectasia, cutaneous, and cancer syndrome, familial" RELATED [OMIM:614564]
xref: GARD:17413 {source="MONDO:GARD"}
xref: MEDGEN:482833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614564 {source="MONDO:equivalentTo", source="Orphanet:313846", source="Orphanet:313846/e"}
xref: Orphanet:313846 {source="OMIM:614564", source="MONDO:equivalentTo"}
xref: UMLS:C3281203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482833"}
is_a: MONDO:0015356 {source="Orphanet:313846"} ! hereditary neoplastic syndrome
is_a: MONDO:0019293 {source="Orphanet:313846"} ! skin vascular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/882 {source="MONDO:mim2gene_medgen"} ! ATR

[Term]
id: MONDO:0013807
name: congenital stationary night blindness 1E
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15816", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness 1E" EXACT CLINGEN_LABEL []
synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT [DOID:0110869]
synonym: "congenital stationary night blindness caused by mutation in GPR179" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1E" EXACT [DOID:0110869, MONDORULE:4]
synonym: "Csnb, complete, autosomal recessive" RELATED [OMIM:614565]
synonym: "CSNB1E" EXACT ABBREVIATION [DOID:0110869, MONDO:Lexical, OMIM:614565]
synonym: "GPR179 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary (complete), 1E, autosomal recessive" EXACT [OMIM:614565, OMIM:genemap2]
synonym: "night blindness, congenital stationary, type 1E" RELATED [MONDO:Lexical, OMIM:614565]
xref: DOID:0110869 {source="MONDO:equivalentTo"}
xref: GARD:15816 {source="MONDO:GARD"}
xref: MEDGEN:482845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614565 {source="MONDO:equivalentTo", source="DOID:0110869"}
xref: UMLS:C3281215 {source="MEDGEN:482845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:614565", source="DOID:0110869", source="MONDO:Redundant", source="OMIM:614565"} ! congenital stationary night blindness
is_a: MONDO:0800396 {source="https://clinicalgenome.org/affiliation/40072/"} ! GPR179-related retinopathy
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31371 ! GPR179
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31371 {source="MONDO:mim2gene_medgen"} ! GPR179
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0013808
name: Maffucci syndrome
def: "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." [Orphanet:163634]
subset: gard_rare {source="GARD:6958", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1393", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163634"}
subset: orphanet_rare {source="Orphanet:163634"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia with hemangioma" EXACT [NCIT:C3213]
synonym: "Chondroplasia angiomatosis" EXACT [NCIT:C3213]
synonym: "Dyschondrodysplasia with hemangiomas" RELATED [GARD:0006958]
synonym: "Dyschondroplasia and cavernous hemangioma" EXACT [NCIT:C3213]
synonym: "enchondromatosis with hemangiomata" EXACT [NCIT:C3213]
synonym: "enchondromatosis with multiple cavernous hemangiomas" RELATED [GARD:0006958]
synonym: "hemangiomata with Dyschondroplasia" EXACT [NCIT:C3213]
synonym: "hemangiomatosis Chondrodystrophica" RELATED [GARD:0006958]
synonym: "Kast syndrome" RELATED [GARD:0006958]
synonym: "Maffucci syndrome" EXACT [OMIM:614569]
synonym: "Maffucci type enchondromatosis" EXACT [https://orcid.org/0000-0002-3302-4610]
synonym: "Maffucci's anomalad" EXACT [NCIT:C3213]
synonym: "multiple Angiomas and Endochondromas" RELATED [GARD:0006958]
synonym: "multiple enchondromatosis, Maffucci type" RELATED [OMIM:614569]
xref: DOID:0060221 {source="MONDO:equivalentTo"}
xref: GARD:6958 {source="MONDO:GARD"}
xref: ICD10CM:Q78.4 {source="DOID:0060221", source="Orphanet:163634/inclusion", source="Orphanet:163634", source="Orphanet:163634/ntbt"}
xref: MEDGEN:7437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3213 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1393 {source="MONDO:NORD"}
xref: OMIM:614569 {source="Orphanet:163634/e", source="DOID:0060221", source="MONDO:equivalentTo", source="Orphanet:163634"}
xref: Orphanet:163634 {source="DOID:0060221", source="MONDO:equivalentTo", source="OMIM:614569"}
xref: SCTID:46041001 {source="MONDO:equivalentTo"}
xref: UMLS:C0024454 {source="MONDO:equivalentTo", source="MEDGEN:7437", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:163634"} ! neoplasm
is_a: MONDO:0015356 {source="Orphanet:163634"} ! hereditary neoplastic syndrome
is_a: MONDO:0019060 {source="Orphanet:163634"} ! bone neoplasm
is_a: MONDO:0019293 {source="Orphanet:163634"} ! skin vascular disease
is_a: MONDO:0019716 {source="Orphanet:163634"} ! overgrowth syndrome
is_a: MONDO:0019755 ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:163634", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948", source="MONDO:0015959"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome" xsd:anyURI {source="GARD:0006958"}

[Term]
id: MONDO:0013809
name: obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4894" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044720

[Term]
id: MONDO:0013810
name: COG6-ongenital disorder of glycosylation
subset: gard_rare {source="GARD:10944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464443"}
subset: orphanet_rare {source="Orphanet:464443"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDG IIL" RELATED [OMIM:614576]
synonym: "CDG syndrome type IIL" EXACT [Orphanet:464443]
synonym: "CDG-IIL" EXACT [Orphanet:464443]
synonym: "CDG2L" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614576, Orphanet:464443]
synonym: "CDGIIl" RELATED [GARD:0010944]
synonym: "COG6-CDG" EXACT ABBREVIATION [Orphanet:464443]
synonym: "COG6-CDG (CDG-IIL)" RELATED [GARD:0010944]
synonym: "COG6-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "congenital disorder of glycosylation type 2l" EXACT [Orphanet:464443]
synonym: "congenital disorder of glycosylation type IIL" EXACT [Orphanet:464443]
synonym: "congenital disorder of glycosylation, type IIL" RELATED [MONDO:Lexical, OMIM:614576]
xref: DOID:0070264 {source="MONDO:equivalentTo"}
xref: GARD:10944 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:464443", source="Orphanet:464443/attributed", source="Orphanet:464443/ntbt"}
xref: MEDGEN:766144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614576 {source="Orphanet:464443", source="MONDO:equivalentTo", source="Orphanet:464443/e"}
xref: Orphanet:464443 {source="MONDO:equivalentTo"}
xref: UMLS:C3553230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766144"}
is_a: MONDO:0005501 {source="DC-OMIM:614576", source="OMIM:614576"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0017750 {source="Orphanet:464443"} ! defect in conserved oligomeric Golgi complex
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18621 {source="MONDO:mim2gene_medgen"} ! COG6

[Term]
id: MONDO:0013811
name: combined oxidative phosphorylation defect type 9
def: "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V." [Orphanet:319509]
subset: gard_rare {source="GARD:17453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319509"}
subset: orphanet_rare {source="Orphanet:319509"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 9" RELATED [MONDO:Lexical, OMIM:614582]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL3" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 9" EXACT [MONDORULE:1, OMIM:614582]
synonym: "COXPD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614582, Orphanet:319509]
synonym: "MRPL3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111472 {source="MONDO:equivalentTo"}
xref: GARD:17453 {source="MONDO:GARD"}
xref: MEDGEN:1634481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614582 {source="Orphanet:319509", source="MONDO:equivalentTo", source="Orphanet:319509/e"}
xref: Orphanet:319509 {source="MONDO:equivalentTo", source="OMIM:614582"}
xref: SCTID:763209008 {source="MONDO:equivalentTo"}
xref: UMLS:C4706315 {source="MEDGEN:1634481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:614582", source="MONDO:Redundant", source="OMIM:614582"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10379 ! MRPL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10379 {source="MONDO:mim2gene_medgen"} ! MRPL3

[Term]
id: MONDO:0013812
name: Baraitser-winter syndrome 2
def: "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15817", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTG1 Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1" EXACT [MONDO:design_pattern]
synonym: "Baraitser-WINTER syndrome 2" RELATED [OMIM:614583]
synonym: "Baraitser-winter syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614583]
synonym: "Baraitser-Winter syndrome type 2" EXACT [MONDORULE:1, OMIM:614583]
synonym: "BRWS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614583]
xref: DOID:0081113 {source="MONDO:equivalentTo"}
xref: GARD:15817 {source="MONDO:GARD"}
xref: MEDGEN:482865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614583 {source="MONDO:equivalentTo"}
xref: Orphanet:2995 {source="OMIM:614583"}
xref: UMLS:C3281235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482865"}
is_a: MONDO:0017579 {source="DC-OMIM:614583", source="MONDO:Redundant", source="OMIM:614583"} ! Baraitser-Winter cerebrofrontofacial syndrome
intersection_of: MONDO:0017579 ! Baraitser-Winter cerebrofrontofacial syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 ! ACTG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 {source="MONDO:mim2gene_medgen"} ! ACTG1

[Term]
id: MONDO:0013813
name: dystonia 21
def: "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." [Orphanet:306734]
subset: gard_rare {source="GARD:17383", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306734"}
subset: orphanet_rare {source="Orphanet:306734"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 21" EXACT [MONDO:Lexical, OMIM:614588]
synonym: "dystonia type 21" EXACT [DOID:0090046, MONDORULE:2]
synonym: "DYT21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614588, Orphanet:306734]
synonym: "primary dystonia, DYT21 type" RELATED [Orphanet:306734]
xref: DOID:0090046 {source="MONDO:equivalentTo"}
xref: GARD:17383 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:306734", source="Orphanet:306734/attributed", source="Orphanet:306734/ntbt", source="DOID:0090046"}
xref: MEDGEN:482866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614588 {source="Orphanet:306734", source="MONDO:equivalentTo", source="Orphanet:306734/e", source="DOID:0090046"}
xref: Orphanet:306734 {source="OMIM:614588", source="MONDO:equivalentTo", source="DOID:0090046"}
xref: UMLS:C3281236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482866"}
is_a: MONDO:0000476 {source="Orphanet:306734"} ! generalized dystonia
is_a: MONDO:0044807 {source="DOID:0090046", source="MONDO:Redundant", source="OMIM:614588"} ! inherited dystonia

[Term]
id: MONDO:0013814
name: podoconiosis, susceptibility to
synonym: "endemic Nonfilarial elephantiasis, susceptibility to" RELATED [OMIM:614590]
synonym: "lymphostatic verrucosis, susceptibility to" RELATED [OMIM:614590]
synonym: "Nonfilarial elephantiasis of Lower legs, susceptibility to" RELATED [OMIM:614590]
synonym: "PDCOS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614590]
synonym: "podoconiosis, susceptibility to" EXACT [MONDO:Lexical, OMIM:614590]
xref: MEDGEN:482875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614590 {source="MONDO:equivalentTo"}
xref: UMLS:C3281245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482875"}
is_a: MONDO:0020573 {source="OMIM:614590", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005425 {source="OMIM:614590"} ! podoconiosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013815
name: bent bone dysplasia syndrome 1
subset: gard_rare {source="GARD:10965", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313855"}
subset: orphanet_rare {source="Orphanet:313855"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BBDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614592]
synonym: "bent bone dysplasia (BBD)-FGFR2 type" RELATED [GARD:0010965]
synonym: "bent bone dysplasia syndrome" RELATED [MONDO:Lexical, OMIM:614592]
synonym: "FGFR2-related bent bone dysplasia" EXACT [PMID:31633310]
synonym: "perinatal lethal bent bone dysplasia" EXACT [Orphanet:313855]
xref: GARD:10965 {source="MONDO:GARD"}
xref: MEDGEN:482877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614592 {source="Orphanet:313855", source="MONDO:equivalentTo", source="Orphanet:313855/e"}
xref: Orphanet:313855 {source="MONDO:equivalentTo", source="OMIM:614592"}
xref: UMLS:C3281247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482877"}
is_a: MONDO:0031615 {source="OMIM:614592", source="PMID:31633310"} ! familial bent bone dysplasia syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013816
name: obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
comment: There appeared to be duplicate terms from Orphanet and OMIM, which should be combined into one class.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0019014

[Term]
id: MONDO:0013817
name: preeclampsia/eclampsia 5
def: "Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CORIN preeclampsia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Corin preeclampsia" EXACT [MONDO:design_pattern]
synonym: "PEE5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614595]
synonym: "preeclampsia caused by mutation in CORIN" EXACT []
synonym: "preeclampsia caused by mutation in Corin" EXACT [MONDO:design_pattern]
synonym: "PREECLAMPSIA/eclampsia 5" RELATED [OMIM:614595]
synonym: "preeclampsia/eclampsia 5" EXACT [MONDO:Lexical, OMIM:614595]
synonym: "Preeclampsia/eclampsia type 5" EXACT [MONDORULE:1, OMIM:614595]
xref: GARD:18393 {source="MONDO:GARD"}
xref: MEDGEN:482918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614595 {source="MONDO:equivalentTo"}
xref: Orphanet:275555 {source="OMIM:614595"}
xref: UMLS:C3281288 {source="MEDGEN:482918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005081 {source="DC-OMIM:614595", source="MONDO:Redundant", source="OMIM:614595"} ! preeclampsia
intersection_of: MONDO:0005081 ! preeclampsia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19012 ! CORIN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19012 {source="MONDO:mim2gene_medgen"} ! CORIN

[Term]
id: MONDO:0013818
name: trichohepatoenteric syndrome 2
def: "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15819", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SKIV2L tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THES2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614602]
synonym: "tricho-hepato-enteric syndrome caused by mutation in SKIV2L" EXACT [MONDO:design_pattern]
synonym: "TRICHOHEPATOENTERIC syndrome 2" RELATED [OMIM:614602]
synonym: "Trichohepatoenteric syndrome 2" EXACT [MONDO:Lexical, OMIM:614602]
synonym: "Trichohepatoenteric syndrome type 2" EXACT [MONDORULE:1, OMIM:614602]
xref: DOID:0111416 {source="MONDO:equivalentTo"}
xref: GARD:15819 {source="MONDO:GARD"}
xref: MEDGEN:482919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614602 {source="MONDO:equivalentTo"}
xref: Orphanet:84064 {source="OMIM:614602"}
xref: UMLS:C3281289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482919"}
is_a: MONDO:0009105 {source="MONDO:Redundant", source="OMIM:614602", source="Orphanet:84064/btnt"} ! trichohepatoenteric syndrome
intersection_of: MONDO:0009105 ! trichohepatoenteric syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10898 ! SKIC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10898 {source="MONDO:mim2gene_medgen"} ! SKIC2

[Term]
id: MONDO:0013819
name: intellectual disability, autosomal dominant 14
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARID1A Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ARID1A-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
synonym: "autosomal dominant intellectual disability 14" EXACT [DOID:0070044]
synonym: "autosomal dominant mental retardation 14" EXACT DEPRECATED [DOID:0070044]
synonym: "COFFIN-SIRIS syndrome 2" RELATED [OMIM:614607]
synonym: "Coffin-Siris syndrome 2" RELATED [DOID:0070044, OMIM:614607]
synonym: "Coffin-Siris syndrome caused by mutation in ARID1A" EXACT [MONDO:design_pattern]
synonym: "CSS2" EXACT ABBREVIATION [DOID:0070044, OMIM:614607]
synonym: "intellectual disability, autosomal dominant 14" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614607]
synonym: "intellectual disability, autosomal dominant type 14" EXACT [MONDORULE:2, OMIM:614607]
synonym: "mental retardation, autosomal dominant 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:614607]
synonym: "mental retardation, autosomal dominant type 14" EXACT DEPRECATED [MONDORULE:2, OMIM:614607]
synonym: "MRD14" EXACT ABBREVIATION [DOID:0070044, MONDO:Lexical, OMIM:614607]
xref: DOID:0070044 {source="MONDO:equivalentTo"}
xref: GARD:15820 {source="MONDO:GARD"}
xref: MEDGEN:766161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614607 {source="DOID:0070044", source="MONDO:equivalentTo"}
xref: Orphanet:1465 {source="OMIM:614607"}
xref: UMLS:C3553247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766161"}
is_a: MONDO:0015452 {source="DC-OMIM:614607", source="MONDO:Redundant", source="OMIM:614607", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
intersection_of: MONDO:0015452 ! Coffin-Siris syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11110 ! ARID1A
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070044", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11110 {source="MONDO:mim2gene_medgen"} ! ARID1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0013820
name: intellectual disability, autosomal dominant 15
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 15" EXACT [DOID:0070045]
synonym: "autosomal dominant mental retardation 15" EXACT DEPRECATED [DOID:0070045]
synonym: "COFFIN-SIRIS syndrome 3" EXACT [OMIM:614608]
synonym: "Coffin-Siris syndrome caused by mutation in SMARCB1" EXACT [MONDO:design_pattern]
synonym: "CSS3" EXACT ABBREVIATION [DOID:0070045, OMIM:614608]
synonym: "intellectual disability, autosomal dominant 15" EXACT [MONDO:Lexical, OMIM:614608]
synonym: "intellectual disability, autosomal dominant type 15" EXACT [MONDORULE:2, OMIM:614608]
synonym: "mental retardation, autosomal dominant 15" RELATED DEPRECATED [MONDO:Lexical, OMIM:614608]
synonym: "mental retardation, autosomal dominant type 15" EXACT DEPRECATED [MONDORULE:2, OMIM:614608]
synonym: "MRD15" EXACT ABBREVIATION [DOID:0070045, MONDO:Lexical, OMIM:614608]
synonym: "SMARCB1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SMARCB1-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
xref: DOID:0070045 {source="MONDO:equivalentTo"}
xref: GARD:15821 {source="MONDO:GARD"}
xref: MEDGEN:766162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614608 {source="DOID:0070045", source="MONDO:equivalentTo"}
xref: Orphanet:1465 {source="OMIM:614608"}
xref: UMLS:C3553248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766162"}
is_a: MONDO:0015452 {source="DC-OMIM:614608", source="MONDO:Redundant", source="OMIM:614608", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
intersection_of: MONDO:0015452 ! Coffin-Siris syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 ! SMARCB1
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070045", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 {source="MONDO:mim2gene_medgen"} ! SMARCB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013821
name: intellectual disability, autosomal dominant 16
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15822", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 16" EXACT [DOID:0070046]
synonym: "autosomal dominant mental retardation 16" EXACT DEPRECATED [DOID:0070046]
synonym: "COFFIN-SIRIS syndrome 4" EXACT [OMIM:614609]
synonym: "Coffin-Siris syndrome caused by mutation in SMARCA4" EXACT [MONDO:design_pattern]
synonym: "CSS4" EXACT ABBREVIATION [DOID:0070046, OMIM:614609]
synonym: "intellectual disability, autosomal dominant 16" EXACT [MONDO:Lexical, OMIM:614609]
synonym: "intellectual disability, autosomal dominant type 16" EXACT [MONDORULE:2, OMIM:614609]
synonym: "mental retardation, autosomal dominant 16" RELATED DEPRECATED [MONDO:Lexical, OMIM:614609]
synonym: "mental retardation, autosomal dominant type 16" EXACT DEPRECATED [MONDORULE:2, OMIM:614609]
synonym: "MRD16" EXACT ABBREVIATION [DOID:0070046, MONDO:Lexical, OMIM:614609]
synonym: "SMARCA4 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SMARCA4-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
xref: DOID:0070046 {source="MONDO:equivalentTo"}
xref: GARD:15822 {source="MONDO:GARD"}
xref: MEDGEN:766163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614609 {source="DOID:0070046", source="MONDO:equivalentTo"}
xref: Orphanet:1465 {source="OMIM:614609"}
xref: UMLS:C3553249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766163"}
is_a: MONDO:0015452 {source="DC-OMIM:614609", source="MONDO:Redundant", source="OMIM:614609", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
intersection_of: MONDO:0015452 ! Coffin-Siris syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 ! SMARCA4
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070046", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 {source="MONDO:mim2gene_medgen"} ! SMARCA4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013822
name: acrodysostosis 2 with or without hormone resistance
def: "Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACRDYS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614613]
synonym: "acrodysostosis 2 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:614613]
synonym: "acrodysostosis 2, with or without hormone resistance" EXACT [OMIM:614613, OMIM:genemap2]
synonym: "acrodysostosis caused by mutation in PDE4D" EXACT [MONDO:design_pattern]
synonym: "PDE4D acrodysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15823 {source="MONDO:GARD"}
xref: MEDGEN:766164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614613 {source="MONDO:equivalentTo"}
xref: Orphanet:280651 {source="OMIM:614613"}
xref: Orphanet:950 {source="OMIM:614613"}
xref: UMLS:C3553250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766164"}
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
is_a: MONDO:0019797 {source="DC-OMIM:614613", source="MONDO:Redundant", source="OMIM:614613"} ! acrodysostosis
intersection_of: MONDO:0019797 ! acrodysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8783 ! PDE4D
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8783 {source="MONDO:mim2gene_medgen"} ! PDE4D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013823
name: autosomal dominant nonsyndromic hearing loss 4B
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18136", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 4B" NARROW [DOID:0110574]
synonym: "autosomal dominant nonsyndromic deafness 4B" NARROW [OMIM:614614]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 4B" NARROW [DOID:0110574, MONDORULE:4]
synonym: "CEACAM16 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 4B" NARROW [MONDO:Lexical, OMIM:614614]
synonym: "deafness, autosomal dominant 4b" NARROW [OMIM:614614, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 4B" NARROW [MONDORULE:4, OMIM:614614]
synonym: "DFNA4B" NARROW ABBREVIATION [DOID:0110574, MONDO:Lexical, OMIM:614614]
xref: DOID:0110574 {source="MONDO:equivalentTo"}
xref: GARD:18136 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110574"}
xref: MEDGEN:482927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614614 {source="MONDO:equivalentTo", source="DOID:0110574"}
xref: UMLS:C3281297 {source="MEDGEN:482927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:614614", source="DOID:0110574", source="MONDO:Redundant", source="OMIM:614614"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31948 ! CEACAM16
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31948 {source="MONDO:mim2gene_medgen"} ! CEACAM16
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013824
name: Joubert syndrome 17
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CPLANE1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS17" EXACT ABBREVIATION [DOID:0110986, MONDO:Lexical, OMIM:614615]
synonym: "Joubert syndrome 17" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614615]
synonym: "Joubert syndrome caused by mutation in CPLANE1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 17" EXACT [DOID:0110986, MONDORULE:2, OMIM:614615]
xref: DOID:0110986 {source="MONDO:equivalentTo"}
xref: GARD:15824 {source="MONDO:GARD"}
xref: MEDGEN:766178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C175702 {source="MONDO:equivalentTo"}
xref: OMIM:614615 {source="DOID:0110986", source="MONDO:equivalentTo"}
xref: Orphanet:475 {source="OMIM:614615"}
xref: UMLS:C3553264 {source="MEDGEN:766178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DC-OMIM:614615", source="DOID:0110986", source="MONDO:Redundant", source="OMIM:614615"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25801 ! CPLANE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25801 {source="MONDO:mim2gene_medgen"} ! CPLANE1

[Term]
id: MONDO:0013825
name: congenital diarrhea 6
def: "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314373"}
subset: orphanet_rare {source="Orphanet:314373"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [DOID:0060780]
synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT OMO:0003005 []
synonym: "congenital diarrhea caused by mutation in GUCY2C" EXACT [MONDO:design_pattern]
synonym: "congenital diarrhea type 6" EXACT [DOID:0060780, MONDORULE:1]
synonym: "congenital diarrhoea caused by mutation in GUCY2C" EXACT OMO:0003005 []
synonym: "congenital diarrhoea type 6" EXACT OMO:0003005 []
synonym: "DIAR6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614616]
synonym: "diarrhea 6" RELATED [MONDO:Lexical, OMIM:614616]
synonym: "diarrhea type 6" EXACT [MONDORULE:1, OMIM:614616]
synonym: "diarrhoea 6" RELATED OMO:0003005 []
synonym: "diarrhoea type 6" EXACT OMO:0003005 []
synonym: "GUCY2C congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GUCY2C congenital diarrhoea" EXACT OMO:0003005 []
xref: DOID:0060780 {source="MONDO:equivalentTo"}
xref: GARD:17417 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="DOID:0060780", source="Orphanet:314373", source="Orphanet:314373/attributed", source="Orphanet:314373/ntbt"}
xref: MEDGEN:766184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614616 {source="Orphanet:314373/e", source="DOID:0060780", source="MONDO:equivalentTo", source="Orphanet:314373"}
xref: Orphanet:314373 {source="DOID:0060780", source="MONDO:equivalentTo", source="OMIM:614616"}
xref: UMLS:C3553270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766184"}
is_a: MONDO:0000824 {source="DC-OMIM:614616", source="DOID:0060780", source="MONDO:Redundant", source="OMIM:614616"} ! congenital diarrhea
is_a: MONDO:0021189 {source="Orphanet:314373"} ! intestinal motility disease
intersection_of: MONDO:0000824 ! congenital diarrhea
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4688 ! GUCY2C
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4688 {source="MONDO:mim2gene_medgen"} ! GUCY2C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013826
name: autosomal recessive nonsyndromic hearing loss 86
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 86" NARROW [DOID:0110532]
synonym: "autosomal recessive nonsyndromic deafness 86" NARROW [OMIM:614617]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 86" NARROW [DOID:0110532, MONDORULE:2]
synonym: "deafness, autosomal recessive 86" NARROW [MONDO:Lexical, OMIM:614617, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 86" NARROW [MONDORULE:2, OMIM:614617]
synonym: "DFNB86" NARROW ABBREVIATION [DOID:0110532, MONDO:Lexical, OMIM:614617]
synonym: "TBC1D24 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110532 {source="MONDO:equivalentTo"}
xref: GARD:22643 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110532"}
xref: MEDGEN:760543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614617 {source="MONDO:equivalentTo", source="DOID:0110532"}
xref: Orphanet:90636 {source="OMIM:614617"}
xref: UMLS:C2829265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760543"}
is_a: MONDO:0019588 {source="DC-OMIM:614617", source="DOID:0110532", source="MONDO:Redundant", source="OMIM:614617"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29203 ! TBC1D24
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29203 {source="MONDO:mim2gene_medgen"} ! TBC1D24
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013827
name: hyperekplexia 3
def: "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15825", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary hyperekplexia caused by mutation in SLC6A5" EXACT [MONDO:design_pattern]
synonym: "HKPX3" EXACT ABBREVIATION [DOID:0060698, MONDO:Lexical, OMIM:614618]
synonym: "hyperekplexia 3" EXACT [MONDO:Lexical, OMIM:614618]
synonym: "hyperekplexia type 3" EXACT [DOID:0060698, MONDORULE:1, OMIM:614618]
synonym: "SLC6A5 hereditary hyperekplexia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060698 {source="MONDO:equivalentTo"}
xref: GARD:15825 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="DOID:0060698"}
xref: MEDGEN:766202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614618 {source="MONDO:equivalentTo", source="DOID:0060698"}
xref: Orphanet:3197 {source="DOID:0060698", source="OMIM:614618"}
xref: UMLS:C3553288 {source="MEDGEN:766202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021022 {source="DOID:0060698", source="MONDO:Redundant", source="OMIM:614618", source="Orphanet:3197/btnt"} ! hereditary hyperekplexia
intersection_of: MONDO:0021022 ! hereditary hyperekplexia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11051 ! SLC6A5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11051 {source="MONDO:mim2gene_medgen"} ! SLC6A5

[Term]
id: MONDO:0013828
name: hyperekplexia 2
def: "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GLRB hereditary hyperekplexia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary hyperekplexia caused by mutation in GLRB" EXACT [MONDO:design_pattern]
synonym: "HKPX2" EXACT ABBREVIATION [DOID:0060697, MONDO:Lexical, OMIM:614619]
synonym: "hyperekplexia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614619]
synonym: "hyperekplexia type 2" EXACT [DOID:0060697, MONDORULE:1, OMIM:614619]
xref: DOID:0060697 {source="MONDO:equivalentTo"}
xref: GARD:15826 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="DOID:0060697"}
xref: MEDGEN:766205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614619 {source="DOID:0060697", source="MONDO:equivalentTo"}
xref: Orphanet:3197 {source="DOID:0060697", source="OMIM:614619"}
xref: UMLS:C3553291 {source="MEDGEN:766205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021022 {source="DOID:0060697", source="MONDO:Redundant", source="OMIM:614619", source="Orphanet:3197/btnt"} ! hereditary hyperekplexia
intersection_of: MONDO:0021022 ! hereditary hyperekplexia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4329 ! GLRB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4329 {source="MONDO:mim2gene_medgen"} ! GLRB

[Term]
id: MONDO:0013829
name: UV-sensitive syndrome 2
def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ERCC8 UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UV-sensitive syndrome 2" EXACT [MONDO:Lexical, OMIM:614621]
synonym: "UV-sensitive syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern]
synonym: "UV-sensitive syndrome type 2" EXACT [MONDORULE:1, OMIM:614621]
synonym: "UVSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614621]
xref: GARD:15827 {source="MONDO:GARD"}
xref: MEDGEN:766212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173110 {source="MONDO:equivalentTo"}
xref: OMIM:614621 {source="MONDO:equivalentTo"}
xref: Orphanet:178338 {source="OMIM:614621"}
xref: UMLS:C3553298 {source="MEDGEN:766212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015797 {source="DC-OMIM:614621", source="MONDO:Redundant", source="OMIM:614621"} ! UV-sensitive syndrome
intersection_of: MONDO:0015797 ! UV-sensitive syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 ! ERCC8
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614621"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 {source="MONDO:mim2gene_medgen"} ! ERCC8

[Term]
id: MONDO:0013830
name: keratoconus 5
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus 5" EXACT [MONDO:Lexical, OMIM:614622]
synonym: "KTCN5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614622]
xref: MEDGEN:766216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614622 {source="MONDO:equivalentTo"}
xref: Orphanet:2335 {source="OMIM:614622"}
xref: UMLS:C3553302 {source="MEDGEN:766216", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015486 {source="DC-OMIM:614622", source="OMIM:614622"} ! keratoconus

[Term]
id: MONDO:0013831
name: keratoconus 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus 6" EXACT [MONDO:Lexical, OMIM:614623]
synonym: "KTCN6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614623]
xref: MEDGEN:766220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614623 {source="MONDO:equivalentTo"}
xref: Orphanet:2335 {source="OMIM:614623"}
xref: UMLS:C3553306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766220"}
is_a: MONDO:0015486 {source="DC-OMIM:614623", source="OMIM:614623"} ! keratoconus

[Term]
id: MONDO:0013832
name: keratoconus 8
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus 8" EXACT [MONDO:Lexical, OMIM:614628]
synonym: "KTCN8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614628]
xref: MEDGEN:766221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614628 {source="MONDO:equivalentTo"}
xref: Orphanet:2335 {source="OMIM:614628"}
xref: UMLS:C3553307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766221"}
is_a: MONDO:0015486 {source="DC-OMIM:614628", source="OMIM:614628"} ! keratoconus

[Term]
id: MONDO:0013833
name: keratoconus 7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus 7" EXACT [MONDO:Lexical, OMIM:614629]
synonym: "KTCN7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614629]
xref: MEDGEN:766222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614629 {source="MONDO:equivalentTo"}
xref: Orphanet:2335 {source="OMIM:614629"}
xref: UMLS:C3553308 {source="MEDGEN:766222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015486 {source="DC-OMIM:614629", source="OMIM:614629"} ! keratoconus

[Term]
id: MONDO:0013834
name: UV-sensitive syndrome 3
def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "UV-sensitive syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614640]
synonym: "UV-sensitive syndrome caused by mutation in UVSSA" EXACT [MONDO:design_pattern]
synonym: "UV-sensitive syndrome type 3" EXACT [MONDORULE:1, OMIM:614640]
synonym: "UVSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614640]
synonym: "UVSSA UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15828 {source="MONDO:GARD"}
xref: MEDGEN:766242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173107 {source="MONDO:equivalentTo"}
xref: OMIM:614640 {source="MONDO:equivalentTo"}
xref: Orphanet:178338 {source="OMIM:614640"}
xref: UMLS:C3553328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766242"}
is_a: MONDO:0015797 {source="DC-OMIM:614640", source="MONDO:Redundant", source="OMIM:614640"} ! UV-sensitive syndrome
intersection_of: MONDO:0015797 ! UV-sensitive syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29304 ! UVSSA
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614640"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29304 {source="MONDO:mim2gene_medgen"} ! UVSSA

[Term]
id: MONDO:0013835
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ISPD muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MDDGA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614643]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" EXACT [MONDO:Lexical, OMIM:614643]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD" EXACT [MONDO:design_pattern]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" EXACT [OMIM:614643]
xref: DOID:0111234 {source="MONDO:equivalentTo"}
xref: GARD:15829 {source="MONDO:GARD"}
xref: MEDGEN:766244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614643 {source="MONDO:equivalentTo"}
xref: Orphanet:899 {source="OMIM:614643", source="MONDO:relatedTo"}
xref: UMLS:C3553330 {source="MEDGEN:766244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614643", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 ! CRPPA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 {source="MONDO:mim2gene_medgen"} ! CRPPA

[Term]
id: MONDO:0013836
name: familial steroid-resistant nephrotic syndrome with sensorineural deafness
subset: gard_rare {source="GARD:17295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280406"}
subset: orphanet_rare {source="Orphanet:280406"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coenzyme Q10 deficiency, primary, 6" RELATED [MONDO:Lexical, OMIM:614650]
synonym: "coenzyme Q10 deficiency, primary, type 6" EXACT [MONDORULE:1, OMIM:614650]
synonym: "COQ10D6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614650]
xref: DOID:0070243 {source="MONDO:equivalentTo"}
xref: GARD:17295 {source="MONDO:GARD"}
xref: ICD10CM:N04.8 {source="Orphanet:280406/attributed", source="Orphanet:280406/ntbt", source="Orphanet:280406"}
xref: MEDGEN:766263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614650 {source="Orphanet:280406", source="MONDO:equivalentTo", source="Orphanet:280406/e"}
xref: Orphanet:280406 {source="MONDO:equivalentTo", source="OMIM:614650"}
xref: UMLS:C3553349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766263"}
is_a: MONDO:0018151 {source="DC-OMIM:614650", source="OMIM:614650", source="Orphanet:280406"} ! coenzyme Q10 deficiency
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20233 {source="MONDO:mim2gene_medgen"} ! COQ6

[Term]
id: MONDO:0013837
name: deafness-encephaloneuropathy-obesity-valvulopathy syndrome
def: "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated." [Orphanet:254898]
subset: gard_rare {source="GARD:17230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254898"}
subset: orphanet_rare {source="Orphanet:254898"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coenzyme Q10 deficiency, primary, 2" RELATED [MONDO:Lexical, OMIM:614651]
synonym: "coenzyme Q10 deficiency, primary, type 2" EXACT [MONDORULE:1, OMIM:614651]
synonym: "COQ10D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614651]
synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [Orphanet:254898]
xref: DOID:0070239 {source="MONDO:equivalentTo"}
xref: GARD:17230 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:254898", source="Orphanet:254898/attributed", source="Orphanet:254898/ntbt"}
xref: MEDGEN:766268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614651 {source="MONDO:equivalentTo", source="Orphanet:254898", source="Orphanet:254898/e"}
xref: Orphanet:254898 {source="OMIM:614651", source="MONDO:equivalentTo"}
xref: UMLS:C3553354 {source="MEDGEN:766268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018151 {source="DC-OMIM:614651", source="OMIM:614651", source="Orphanet:254898"} ! coenzyme Q10 deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17759 {source="MONDO:mim2gene_medgen"} ! PDSS1

[Term]
id: MONDO:0013838
name: coenzyme Q10 deficiency, primary, 3
def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "coenzyme Q10 deficiency caused by mutation in PDSS2" EXACT [MONDO:design_pattern]
synonym: "coenzyme Q10 deficiency, primary, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614652]
synonym: "coenzyme Q10 deficiency, primary, type 3" EXACT [MONDORULE:1, OMIM:614652]
synonym: "COQ10D3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614652]
synonym: "PDSS2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070240 {source="MONDO:equivalentTo"}
xref: GARD:18379 {source="MONDO:GARD"}
xref: MEDGEN:766272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614652 {source="MONDO:equivalentTo"}
xref: Orphanet:255249 {source="OMIM:614652"}
xref: UMLS:C3553358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766272"}
is_a: MONDO:0018151 {source="MONDO:Redundant", source="OMIM:614652"} ! coenzyme Q10 deficiency
intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23041 ! PDSS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23041 {source="MONDO:mim2gene_medgen"} ! PDSS2

[Term]
id: MONDO:0013839
name: hereditary sensory and autonomic neuropathy type 6
def: "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12987", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314381"}
subset: orphanet_rare {source="Orphanet:314381"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DST hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial dysautonomia with contractures" EXACT [Orphanet:314381]
synonym: "hereditary sensory and autonomic neuropathy caused by mutation in DST" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory and autonomic neuropathy type VI" EXACT [DOID:0070151, Orphanet:314381]
synonym: "HSAN 6" RELATED [OMIM:614653]
synonym: "HSAN6" EXACT ABBREVIATION [DOID:0070151, MONDO:Lexical, OMIM:614653, Orphanet:314381]
synonym: "neuropathy, hereditary sensory and autonomic, type 6" RELATED [OMIM:614653]
synonym: "neuropathy, hereditary sensory and autonomic, type VI" RELATED [MONDO:Lexical, OMIM:614653]
xref: DOID:0070151 {source="MONDO:equivalentTo"}
xref: GARD:12987 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:314381", source="Orphanet:314381/attributed", source="Orphanet:314381/ntbt", source="DOID:0070151"}
xref: MEDGEN:761278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614653 {source="MONDO:equivalentTo", source="Orphanet:314381", source="DOID:0070151", source="Orphanet:314381/e"}
xref: Orphanet:314381 {source="OMIM:614653", source="MONDO:equivalentTo", source="DOID:0070151"}
xref: UMLS:C3539003 {source="MONDO:equivalentTo", source="MEDGEN:761278", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="DOID:0070151", source="OMIM:614653", source="Orphanet:314381/inferred"} ! hereditary sensory and autonomic neuropathy
intersection_of: MONDO:0015364 ! hereditary sensory and autonomic neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1090 ! DST
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1090 {source="MONDO:mim2gene_medgen"} ! DST

[Term]
id: MONDO:0013840
name: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
def: "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." [Orphanet:319678]
subset: gard_rare {source="GARD:17470", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319678"}
subset: orphanet_rare {source="Orphanet:319678"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coenzyme Q10 deficiency, primary, 5" RELATED [MONDO:Lexical, OMIM:614654]
synonym: "coenzyme Q10 deficiency, primary, type 5" EXACT [MONDORULE:1, OMIM:614654]
synonym: "COQ10D5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614654]
xref: DOID:0070242 {source="MONDO:equivalentTo"}
xref: GARD:17470 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:319678/attributed", source="Orphanet:319678/ntbt", source="Orphanet:319678"}
xref: MEDGEN:766288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614654 {source="Orphanet:319678/e", source="MONDO:equivalentTo", source="Orphanet:319678"}
xref: Orphanet:319678 {source="OMIM:614654", source="MONDO:equivalentTo"}
xref: UMLS:C3553374 {source="MEDGEN:766288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018151 {source="DC-OMIM:614654", source="OMIM:614654", source="Orphanet:319678"} ! coenzyme Q10 deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25302 {source="MONDO:mim2gene_medgen"} ! COQ9

[Term]
id: MONDO:0013841
name: stuttering, familial persistent, 3
synonym: "STUT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614655]
synonym: "stuttering, familial persistent, 3" EXACT [OMIM:614655]
xref: MEDGEN:766295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614655 {source="MONDO:equivalentTo"}
xref: UMLS:C3553381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766295"}
is_a: MONDO:0000723 {source="DC-OMIM:614655", source="OMIM:614655"} ! stutter disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013842
name: cortisone reductase deficiency 2
def: "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." [NCIT:C131084]
subset: gard_rare {source="GARD:15830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "11-beta-hydroxysteroid dehydrogenase type 1 deficiency" EXACT [NCIT:C131084]
synonym: "cortisone reductase deficiency 2" EXACT [MONDO:Lexical, OMIM:614662]
synonym: "cortisone reductase deficiency caused by mutation in HSD11B1" EXACT [MONDO:design_pattern]
synonym: "cortisone reductase deficiency type 2" EXACT [DOID:0090140, MONDORULE:1, NCIT:C131084, OMIM:614662]
synonym: "CORTRD2" EXACT ABBREVIATION [DOID:0090140, MONDO:Lexical, OMIM:614662]
synonym: "HSD11B1 cortisone reductase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090140 {source="MONDO:equivalentTo"}
xref: GARD:15830 {source="MONDO:GARD"}
xref: MEDGEN:766296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131084 {source="DOID:0090140", source="MONDO:equivalentTo"}
xref: OMIM:614662 {source="DOID:0090140", source="MONDO:equivalentTo"}
xref: Orphanet:168588 {source="OMIM:614662"}
xref: UMLS:C3553382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766296"}
is_a: MONDO:0000193 {source="DC-OMIM:614662", source="DOID:0090140", source="MONDO:Redundant", source="OMIM:614662", source="Orphanet:168588/btnt"} ! cortisone reductase deficiency
intersection_of: MONDO:0000193 ! cortisone reductase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5208 ! HSD11B1
relationship: disease_has_basis_in_disruption_of GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5208 {source="MONDO:mim2gene_medgen"} ! HSD11B1

[Term]
id: MONDO:0013843
name: intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
def: "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314376"}
subset: orphanet_rare {source="Orphanet:314376"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GUCY2C meconium ileus" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "meconium ileus" BROAD [OMIM:614665, OMIM:genemap2]
synonym: "meconium ileus caused by mutation in GUCY2C" EXACT []
synonym: "meconium ileus due to guanylate cyclase 2C deficiency" EXACT [Orphanet:314376]
xref: GARD:17418 {source="MONDO:GARD"}
xref: ICD10CM:P76.0 {source="Orphanet:314376/attributed", source="Orphanet:314376/ntbt", source="Orphanet:314376"}
xref: ICD9:777.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1390359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614665 {source="Orphanet:314376/e", source="MONDO:equivalentTo", source="Orphanet:314376"}
xref: Orphanet:314376 {source="OMIM:614665", source="MONDO:equivalentTo"}
xref: SCTID:733447005 {source="MONDO:equivalentTo"}
xref: UMLS:C4518781 {source="MEDGEN:1390359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021189 {source="Orphanet:314376"} ! intestinal motility disease
intersection_of: MONDO:0054868 ! meconium ileus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4688 ! GUCY2C
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4688 {source="MONDO:mim2gene_medgen"} ! GUCY2C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013844
name: stuttering, familial persistent, 4
synonym: "STUT4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614668]
synonym: "stuttering, familial persistent, 4" EXACT [OMIM:614668]
xref: MEDGEN:766317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614668 {source="MONDO:equivalentTo"}
xref: UMLS:C3553403 {source="MEDGEN:766317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000723 {source="DC-OMIM:614668", source="OMIM:614668"} ! stutter disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013845
name: auriculocondylar syndrome 2
def: "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15831", source="MONDO:GARD"}
subset: rare
synonym: "ARCND2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614669]
synonym: "AURICULOCONDYLAR syndrome 2" RELATED [OMIM:614669]
synonym: "Auriculocondylar syndrome 2" EXACT [MONDO:Lexical, OMIM:614669]
synonym: "auriculocondylar syndrome caused by mutation in PLCB4" EXACT [MONDO:design_pattern]
synonym: "Auriculocondylar syndrome type 2" EXACT [MONDORULE:1, OMIM:614669]
synonym: "PLCB4 auriculocondylar syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15831 {source="MONDO:GARD"}
xref: MEDGEN:766318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614669 {source="MONDO:equivalentTo"}
xref: Orphanet:137888 {source="OMIM:614669"}
xref: UMLS:C3553404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766318"}
is_a: MONDO:0000107 {source="DC-OMIM:614669", source="MONDO:Redundant", source="OMIM:614669"} ! auriculocondylar syndrome
intersection_of: MONDO:0000107 ! auriculocondylar syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9059 ! PLCB4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9059 {source="MONDO:mim2gene_medgen"} ! PLCB4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013846
name: peripartum cardiomyopathy, susceptibility to
subset: predisposition
synonym: "peripartum cardiomyopathy, susceptibility to" EXACT [OMIM:614670]
synonym: "Ppcm, susceptibility to" RELATED [OMIM:614670]
xref: MEDGEN:766320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614670 {source="MONDO:equivalentTo"}
xref: UMLS:C3553406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766320"}
is_a: MONDO:0020573 {source="OMIM:614670", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0018920 {source="OMIM:614670"} ! peripartum cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013847
name: chromosome 16p11.2 duplication syndrome
def: "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life." [Orphanet:370079]
subset: gard_rare {source="GARD:12388", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370079"}
subset: ordo_malformation_syndrome {source="Orphanet:370079"}
subset: orphanet_rare {source="Orphanet:370079"}
subset: predisposition
subset: rare
synonym: "16p11.2 duplication" RELATED [GARD:0012388]
synonym: "16p11.2 duplication syndrome" RELATED [GARD:0012388]
synonym: "16p11.2 microduplication" RELATED [GARD:0012388]
synonym: "autism, susceptibility to, 14B" RELATED [OMIM:614671]
synonym: "AUTS14B" RELATED ABBREVIATION [GARD:0012388]
synonym: "chromosome 16p11.2 duplication syndrome" EXACT [OMIM:614671]
synonym: "proximal 16p11.2 microduplication syndrome" EXACT [DOID:0060430]
synonym: "proximal dup(16)(p11.2)" EXACT [DOID:0060430, Orphanet:370079]
synonym: "proximal trisomy 16p11.2" EXACT [DOID:0060430, Orphanet:370079]
synonym: "susceptibility to autism, 14B" RELATED [GARD:0012388]
xref: DOID:0060430 {source="MONDO:equivalentTo"}
xref: GARD:12388 {source="MONDO:GARD"}
xref: MEDGEN:766321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614671 {source="DOID:0060430", source="MONDO:equivalentTo", source="Orphanet:370079", source="Orphanet:370079/e"}
xref: Orphanet:370079 {source="DOID:0060430", source="MONDO:equivalentTo", source="OMIM:614671"}
xref: SCTID:765142003 {source="MONDO:equivalentTo"}
xref: UMLS:C3553407 {source="MEDGEN:766321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DC-OMIM:614671", source="DOID:0060430"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016949 {source="Orphanet:370079"} ! partial duplication of the short arm of chromosome 16
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr16p11.2 ! 16p11.2 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:370079", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0013848
name: dilated cardiomyopathy 2B
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15832", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 2B" RELATED [MONDO:Lexical, OMIM:614672]
synonym: "cardiomyopathy, dilated, type 2B" EXACT [MONDORULE:4, OMIM:614672]
synonym: "CMD2B" EXACT ABBREVIATION [DOID:0110441, MONDO:Lexical, OMIM:614672]
synonym: "dilated cardiomyopathy 2B" EXACT CLINGEN_LABEL []
synonym: "dilated cardiomyopathy type 2B" EXACT [DOID:0110441, MONDORULE:4]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in GATAD1" EXACT [MONDO:design_pattern]
synonym: "GATAD1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110441 {source="MONDO:equivalentTo"}
xref: GARD:15832 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110441"}
xref: MEDGEN:766323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614672 {source="MONDO:equivalentTo", source="DOID:0110441"}
xref: Orphanet:154 {source="OMIM:614672"}
xref: UMLS:C3553409 {source="MEDGEN:766323", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:614672"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29941 {source="MONDO:mim2gene_medgen"} ! GATAD1

[Term]
id: MONDO:0013849
name: microcephaly 8, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15833", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in CEP135" EXACT [MONDO:design_pattern]
synonym: "CEP135 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614673]
synonym: "microcephaly 8, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614673]
xref: DOID:0070282 {source="MONDO:equivalentTo"}
xref: GARD:15833 {source="MONDO:GARD"}
xref: MEDGEN:766328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614673 {source="MONDO:equivalentTo"}
xref: Orphanet:2512 {source="OMIM:614673"}
xref: UMLS:C3553414 {source="MEDGEN:766328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="DC-OMIM:614673", source="MONDO:Redundant", source="OMIM:614673"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29086 ! CEP135
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29086 {source="MONDO:mim2gene_medgen"} ! CEP135

[Term]
id: MONDO:0013850
name: obsolete periodic fever, menstrual cycle-dependent
comment: This term was a duplicate.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044660

[Term]
id: MONDO:0013851
name: autosomal dominant aplasia and myelodysplasia
subset: gard_rare {source="GARD:17420", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314399"}
subset: orphanet_rare {source="Orphanet:314399"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant aplastic anaemia and myelodysplasia" EXACT OMO:0003005 []
synonym: "autosomal dominant aplastic anemia and myelodysplasia" EXACT [Orphanet:314399]
synonym: "BMFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614675]
synonym: "bone marrow failure syndrome 1" RELATED [MONDO:Lexical, OMIM:614675]
synonym: "bone marrow failure syndrome type 1" EXACT [MONDORULE:1, OMIM:614675]
xref: GARD:17420 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:314399/attributed", source="Orphanet:314399/ntbt", source="Orphanet:314399"}
xref: MEDGEN:814883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200301 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:614675 {source="Orphanet:314399/e", source="MONDO:equivalentTo", source="Orphanet:314399"}
xref: Orphanet:314399 {source="OMIM:614675", source="MONDO:equivalentTo"}
xref: UMLS:C3808553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814883"}
is_a: MONDO:0000159 {source="DC-OMIM:614675", source="OMIM:614675"} ! bone marrow failure syndrome
is_a: MONDO:0001713 {source="Orphanet:314399"} ! inherited aplastic anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11303 {source="MONDO:mim2gene_medgen"} ! SRP72

[Term]
id: MONDO:0013852
name: hypertrophic cardiomyopathy 21
def: "A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation." [DOID:0110311, PMID:16651466]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 21" EXACT [DOID:0110311]
synonym: "cardiomyopathy, familial hypertrophic, 21" RELATED [MONDO:Lexical, OMIM:614676]
synonym: "cardiomyopathy, hypertrophic, 21" EXACT [OMIM:614676, OMIM:genemap2]
synonym: "CMH21" EXACT ABBREVIATION [DOID:0110311, MONDO:Lexical, OMIM:614676]
synonym: "hypertrophic cardiomyopathy type 21" EXACT [DOID:0110311, MONDORULE:2]
xref: DOID:0110311 {source="MONDO:equivalentTo"}
xref: MEDGEN:766356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614676 {source="MONDO:equivalentTo", source="DOID:0110311"}
xref: Orphanet:155 {source="OMIM:614676"}
xref: UMLS:C3553442 {source="MEDGEN:766356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:614676", source="DOID:0110311", source="MONDO:Redundant", source="OMIM:614676"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:614676"} ! familial hypertrophic cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013853
name: pontocerebellar hypoplasia type 1B
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15834", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EXOSC3 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3" EXACT [MONDO:design_pattern]
synonym: "PCH1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614678]
synonym: "pontocerebellar hypoplasia type 1B" EXACT CLINGEN_LABEL []
synonym: "pontocerebellar hypoplasia, type 1B" RELATED [MONDO:Lexical, OMIM:614678]
xref: DOID:0060266 {source="MONDO:equivalentTo"}
xref: GARD:15834 {source="MONDO:GARD"}
xref: MEDGEN:766363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614678 {source="DOID:0060266", source="MONDO:equivalentTo"}
xref: Orphanet:2254 {source="DOID:0060266", source="OMIM:614678"}
xref: UMLS:C3553449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766363"}
is_a: MONDO:0016396 {source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1
is_a: MONDO:0020135 {source="DOID:0060266", source="MONDO:Redundant", source="OMIM:614678"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17944 ! EXOSC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17944 {source="MONDO:mim2gene_medgen"} ! EXOSC3

[Term]
id: MONDO:0013854
name: primary ciliary dyskinesia 17
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCDC103 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD17" EXACT ABBREVIATION [DOID:0110621, MONDO:Lexical, OMIM:614679]
synonym: "ciliary dyskinesia, primary, 17" RELATED [MONDO:Lexical, OMIM:614679]
synonym: "ciliary dyskinesia, primary, 17, with or without situs inversus" RELATED [OMIM:614679]
synonym: "ciliary dyskinesia, primary, type 17" EXACT [MONDORULE:2, OMIM:614679]
synonym: "primary ciliary dyskinesia 17" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 17 with or without situs inversus" EXACT [DOID:0110621]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC103" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 17" EXACT [DOID:0110621, MONDORULE:2]
xref: DOID:0110621 {source="MONDO:equivalentTo"}
xref: GARD:15835 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110621"}
xref: MEDGEN:762261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614679 {source="DOID:0110621", source="MONDO:equivalentTo"}
xref: UMLS:C3542550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762261"}
is_a: MONDO:0016575 {source="DC-OMIM:614679", source="DOID:0110621", source="MONDO:Redundant", source="OMIM:614679"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32700 ! CCDC103
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32700 {source="MONDO:mim2gene_medgen"} ! CCDC103

[Term]
id: MONDO:0013855
name: influenza, severe, susceptibility to
subset: predisposition
synonym: "influenza, severe, susceptibility to" EXACT [OMIM:614680]
synonym: "susceptibility to severe influenza" RELATED [OMIM:614680]
xref: MEDGEN:766376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614680 {source="MONDO:equivalentTo"}
xref: UMLS:C3553462 {source="MEDGEN:766376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:614680"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5414 {source="MONDO:mim2gene_medgen"} ! IFITM3
relationship: predisposes_towards MONDO:0005812 ! influenza

[Term]
id: MONDO:0013856
name: hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes
synonym: "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes" EXACT [OMIM:614684]
synonym: "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes" EXACT DEPRECATED [OMIM:614684]
xref: MEDGEN:766379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614684 {source="MONDO:equivalentTo"}
xref: UMLS:C3553465 {source="MEDGEN:766379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013857
name: alar cleft, isolated
synonym: "alar cleft, isolated" EXACT [OMIM:614687]
xref: MEDGEN:766390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614687 {source="MONDO:equivalentTo"}
xref: UMLS:C3553476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766390"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0013858
name: pontine tegmental cap dysplasia
def: "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation." [https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia]
subset: gard_rare {source="GARD:10919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:269229"}
subset: ordo_morphological_anomaly {source="Orphanet:269229"}
subset: orphanet_rare {source="Orphanet:269229"}
subset: rare
synonym: "PONTINE tegmental CAP dysplasia" RELATED [OMIM:614688]
synonym: "pontine tegmental cap dysplasia" EXACT [MONDO:Lexical, OMIM:614688]
synonym: "PTCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614688, Orphanet:269229]
xref: GARD:10919 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:269229", source="Orphanet:269229/ntbt"}
xref: MEDGEN:762040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614688 {source="MONDO:equivalentTo", source="Orphanet:269229", source="Orphanet:269229/e"}
xref: Orphanet:269229 {source="OMIM:614688", source="MONDO:equivalentTo"}
xref: UMLS:C3541340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762040"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia" xsd:anyURI {source="GARD:0010919"}

[Term]
id: MONDO:0013859
name: cataract 38
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGK early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive congenital cataract 5" EXACT [DOID:0110245]
synonym: "cataract 38" EXACT [MONDO:Lexical, OMIM:614691]
synonym: "cataract 38, autosomal recessive" EXACT [OMIM:614691, OMIM:genemap2]
synonym: "cataract type 38" EXACT [DOID:0110245, MONDORULE:2, OMIM:614691]
synonym: "cataract, autosomal recessive congenital 5" RELATED [OMIM:614691]
synonym: "CATC5" EXACT ABBREVIATION [DOID:0110245]
synonym: "CTRCT38" EXACT ABBREVIATION [DOID:0110245, MONDO:Lexical, OMIM:614691]
synonym: "early-onset non-syndromic cataract caused by mutation in AGK" EXACT [MONDO:design_pattern]
xref: DOID:0110245 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110245"}
xref: MEDGEN:766408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614691 {source="MONDO:equivalentTo", source="DOID:0110245"}
xref: Orphanet:91492 {source="OMIM:614691"}
xref: UMLS:C3553494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766408"}
is_a: MONDO:0005129 {source="DOID:0110245", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:614691"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21869 ! AGK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21869 {source="MONDO:mim2gene_medgen"} ! AGK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013860
name: idiopathic membranous glomerulonephritis
def: "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function." [Orphanet:97560]
subset: gard_rare {source="GARD:9180", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97560"}
subset: orphanet_rare {source="Orphanet:97560"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Extramembranous glomerulonephritis" RELATED [GARD:0009180]
synonym: "glomerulonephritis, membranous" RELATED [GARD:0009180]
synonym: "Idiopathic membranous glomerulopathy" RELATED [NCIT:C123060]
synonym: "idiopathic membranous nephropathy" RELATED [GARD:0009180]
synonym: "MBNP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614692]
synonym: "membranous GN" RELATED [GARD:0009180]
synonym: "membranous nephropathy - Idiopathic" EXACT [NCIT:C123060]
synonym: "membranous nephropathy, susceptibility to" RELATED [MONDO:Lexical, OMIM:614692]
synonym: "MGN" RELATED ABBREVIATION [GARD:0009180]
xref: GARD:9180 {source="MONDO:GARD"}
xref: ICD10CM:N04.2 {source="Orphanet:97560/ntbt", source="Orphanet:97560"}
xref: MEDGEN:39226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123060 {source="MONDO:equivalentTo"}
xref: OMIM:614692 {source="Orphanet:97560/e", source="MONDO:equivalentTo", source="Orphanet:97560"}
xref: Orphanet:97560 {source="MONDO:equivalentTo", source="OMIM:614692"}
xref: SCTID:722119002 {source="MONDO:equivalentTo"}
xref: UMLS:C0086445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39226"}
is_a: MONDO:0005376 {source="NCIT:C123060"} ! membranous glomerulonephritis
relationship: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 {source="MONDO:mim2gene_medgen"} ! MME

[Term]
id: MONDO:0013861
name: obsolete amyotrophic lateral sclerosis type 17
comment: merged in OMIM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2577" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010936

[Term]
id: MONDO:0013862
name: immunodeficiency, common variable, 7
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CVID7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614699]
synonym: "immunodeficiency, common variable, 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614699]
synonym: "immunodeficiency, common variable, type 7" EXACT [MONDORULE:1, OMIM:614699]
xref: DOID:0081150 {source="MONDO:equivalentTo"}
xref: GARD:15836 {source="MONDO:GARD"}
xref: MEDGEN:762276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200801 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:614699 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:614699"}
xref: UMLS:C3542922 {source="MEDGEN:762276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015517 {source="DC-OMIM:614699", source="OMIM:614699"} ! common variable immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2336 {source="MONDO:mim2gene_medgen"} ! CR2

[Term]
id: MONDO:0013863
name: combined immunodeficiency due to LRBA deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13565", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:445018"}
subset: orphanet_rare {source="Orphanet:445018"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CID due to LRBA deficiency" EXACT [Orphanet:445018]
synonym: "combined immunodeficiency due to LRBA deficiency" EXACT CLINGEN_LABEL []
synonym: "CVID8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614700]
synonym: "immunodeficiency, common variable, 8, with autoimmunity" RELATED [MONDO:Lexical, OMIM:614700]
xref: DOID:0081151 {source="MONDO:equivalentTo"}
xref: GARD:13565 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:445018/attributed", source="Orphanet:445018/ntbt", source="Orphanet:445018"}
xref: MEDGEN:766426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614700 {source="Orphanet:445018", source="MONDO:equivalentTo", source="Orphanet:445018/e"}
xref: Orphanet:1572 {source="OMIM:614700"}
xref: Orphanet:445018 {source="MONDO:equivalentTo"}
xref: UMLS:C3553512 {source="MONDO:equivalentTo", source="MEDGEN:766426", source="MONDO:MEDGEN"}
is_a: MONDO:0015517 {source="DC-OMIM:614700", source="OMIM:614700"} ! common variable immunodeficiency
is_a: MONDO:0021094 {source="OMIM:614700"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:445018", source="Orphanet:445018/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder
relationship: excluded_subClassOf MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:445018", source="Orphanet:445018/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
relationship: excluded_subClassOf MONDO:0015126 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! polyendocrinopathy
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: excluded_subClassOf MONDO:0019126 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete intractable diarrhea of infancy
relationship: excluded_subClassOf MONDO:0019787 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune enteropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513", source="MONDO:0015616"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1742 {source="MONDO:mim2gene_medgen"} ! LRBA

[Term]
id: MONDO:0013864
name: Cornelia de Lange syndrome 4
def: "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15837", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDLS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614701]
synonym: "Cornelia DE Lange syndrome 4" RELATED [OMIM:614701]
synonym: "Cornelia de Lange syndrome 4" EXACT [MONDO:Lexical, OMIM:614701]
synonym: "Cornelia de Lange syndrome caused by mutation in RAD21" EXACT [MONDO:design_pattern]
synonym: "Cornelia De Lange syndrome type 4" EXACT [MONDORULE:1, OMIM:614701]
synonym: "RAD21 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080508 {source="MONDO:equivalentTo"}
xref: GARD:15837 {source="MONDO:GARD"}
xref: MEDGEN:766431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614701 {source="MONDO:equivalentTo"}
xref: Orphanet:199 {source="OMIM:614701"}
xref: UMLS:C3553517 {source="MEDGEN:766431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016033 {source="DC-OMIM:614701", source="MONDO:Redundant", source="OMIM:614701"} ! Cornelia de Lange syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9811 ! RAD21
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9811 {source="MONDO:mim2gene_medgen"} ! RAD21
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013865
name: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
def: "A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia." [Orphanet:314637]
subset: gard_rare {source="GARD:17428", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314637"}
subset: orphanet_rare {source="Orphanet:314637"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis" RELATED [OMIM:614702]
synonym: "combined oxidative phosphorylation defect type 10" EXACT [Orphanet:314637]
synonym: "combined oxidative phosphorylation deficiency 10" RELATED [MONDO:Lexical, OMIM:614702]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTO1" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 10" EXACT [MONDORULE:2, OMIM:614702]
synonym: "COXPD10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614702, Orphanet:314637]
synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT CLINGEN_LABEL []
synonym: "MTO1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111480 {source="MONDO:equivalentTo"}
xref: GARD:17428 {source="MONDO:GARD"}
xref: ICD10CM:I42.2 {source="Orphanet:314637", source="Orphanet:314637/attributed", source="Orphanet:314637/ntbt"}
xref: MEDGEN:1664257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614702 {source="MONDO:equivalentTo", source="Orphanet:314637", source="Orphanet:314637/e"}
xref: Orphanet:314637 {source="MONDO:equivalentTo", source="OMIM:614702"}
xref: UMLS:C4749921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1664257"}
is_a: MONDO:0000732 {source="DC-OMIM:614702", source="MONDO:Redundant", source="OMIM:614702"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0044970 {source="Orphanet:314637", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease
intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19261 {source="MONDO:mim2gene_medgen"} ! MTO1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19261 {source="MONDO:mim2gene_medgen"} ! MTO1

[Term]
id: MONDO:0013866
name: neuronal ceroid lipofuscinosis 11
def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314629"}
subset: ordo_etiological_subtype {source="Orphanet:314629"}
subset: orphanet_rare {source="Orphanet:314629"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 11" RELATED [MONDO:Lexical, OMIM:614706]
synonym: "ceroid lipofuscinosis, neuronal, type 11" EXACT [MONDORULE:2, OMIM:614706]
synonym: "CLN11" EXACT ABBREVIATION [DOID:0110732, MONDO:Lexical, OMIM:614706]
synonym: "CLN11 disease" RELATED [Orphanet:314629]
synonym: "GRN neuronal ceroid lipofuscinosis" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Grn neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in GRN" EXACT []
synonym: "neuronal ceroid lipofuscinosis caused by mutation in Grn" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 11" EXACT [DOID:0110732, MONDORULE:2]
xref: DOID:0110732 {source="MONDO:equivalentTo"}
xref: GARD:17426 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:0110732", source="Orphanet:314629", source="Orphanet:314629/attributed", source="Orphanet:314629/ntbt"}
xref: MEDGEN:761331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614706 {source="DOID:0110732", source="MONDO:equivalentTo", source="Orphanet:314629", source="Orphanet:314629/e"}
xref: Orphanet:314629 {source="DOID:0110732", source="MONDO:equivalentTo", source="OMIM:614706"}
xref: Orphanet:79262 {source="OMIM:614706"}
xref: UMLS:C3539123 {source="MEDGEN:761331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016295 {source="DOID:0110732", source="MONDO:Redundant", source="OMIM:614706", source="Orphanet:314629/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019260 {source="Orphanet:314629"} ! adult neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4601 ! GRN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4601 {source="MONDO:mim2gene_medgen"} ! GRN

[Term]
id: MONDO:0013867
name: Brown-Vialetto-van Laere syndrome 2
def: "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12861", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:572550"}
subset: rare
synonym: "Brown-Vialetto-van Laere syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614707]
synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2" EXACT [MONDO:design_pattern]
synonym: "Brown-Vialetto-Van Laere syndrome type 2" EXACT [MONDORULE:1, OMIM:614707]
synonym: "BVVLS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614707]
synonym: "SLC52A2 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080786 {source="MONDO:equivalentTo"}
xref: GARD:12861 {source="MONDO:GARD"}
xref: HGNC:30224 {source="GARD:0012861"}
xref: MEDGEN:766452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C183529 {source="MONDO:equivalentTo"}
xref: OMIM:614707 {source="MONDO:equivalentTo"}
xref: Orphanet:572550 {source="MONDO:equivalentTo"}
xref: Orphanet:97229 {source="OMIM:614707"}
xref: UMLS:C3553538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766452"}
is_a: MONDO:0008891 {source="Orphanet:97229/btnt"} ! riboflavin transporter deficiency
intersection_of: MONDO:0008891 ! riboflavin transporter deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30224 ! SLC52A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30224 {source="MONDO:mim2gene_medgen"} ! SLC52A2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2" xsd:anyURI {source="GARD:0012861"}

[Term]
id: MONDO:0013868
name: porokeratosis 7, multiple types
subset: gard_rare {source="GARD:15838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POROK7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614714]
synonym: "porokeratosis 7, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:614714]
synonym: "porokeratosis 7, multiple types" EXACT [OMIM:614714]
xref: GARD:15838 {source="MONDO:GARD"}
xref: MEDGEN:766463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614714 {source="MONDO:equivalentTo"}
xref: Orphanet:79152 {source="OMIM:614714"}
xref: UMLS:C3553549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766463"}
is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:614714"} ! porokeratosis
is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7529 {source="MONDO:mim2gene_medgen"} ! MVD

[Term]
id: MONDO:0013869
name: adenine phosphoribosyltransferase deficiency
def: "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." [Orphanet:976]
subset: gard_rare {source="GARD:546", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:976"}
subset: orphanet_rare {source="Orphanet:976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2,8-dihydroxyadenine urolithiasis" EXACT [DOID:0060350, Orphanet:976]
synonym: "2,8-dihydroxyadeninuria disease" EXACT [https://orcid.org/0000-0002-6601-2165, PMID:23064195]
synonym: "adenine phosphoribosyltransferase deficiency" EXACT [MONDO:Lexical, OMIM:614723]
synonym: "APRT deficiency" EXACT [DOID:0060350, GARD:0010666, OMIM:614723, Orphanet:976]
synonym: "APRTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614723]
synonym: "Dihydroxyadeninuria" RELATED [GARD:0010666]
synonym: "nephrolithiasis, Dha" RELATED [OMIM:614723]
synonym: "urolithiasis, 2,8-dihydroxyadenine" RELATED [OMIM:614723]
synonym: "urolithiasis, Dha" RELATED [OMIM:614723]
xref: DOID:0060350 {source="MONDO:equivalentTo"}
xref: GARD:546 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:976/attributed", source="Orphanet:976/ntbt", source="Orphanet:976"}
xref: MEDGEN:82772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538228 {source="MONDO:equivalentTo", source="DOID:0060350"}
xref: NANDO:2200587 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C121564 {source="MONDO:equivalentTo", source="DOID:0060350"}
xref: OMIM:614723 {source="Orphanet:976", source="MONDO:equivalentTo", source="Orphanet:976/e", source="DOID:0060350"}
xref: Orphanet:976 {source="MONDO:equivalentTo", source="OMIM:614723"}
xref: SCTID:11852004 {source="DOID:0060350"}
xref: SCTID:124274002 {source="MONDO:equivalentTo", source="DOID:0060350"}
xref: UMLS:C0268120 {source="MEDGEN:82772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004736 {source="DOID:0060350"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019236 {source="Orphanet:976"} ! inborn disorder of purine metabolism
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:976", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/626 {source="MONDO:mim2gene_medgen"} ! APRT
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria" xsd:anyURI {source="GARD:0010666"}

[Term]
id: MONDO:0013870
name: TMEM165-congenital disorder of glycosylation
def: "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)." [Orphanet:314667]
subset: gard_rare {source="GARD:12413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314667"}
subset: orphanet_rare {source="Orphanet:314667"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT [Orphanet:314667]
synonym: "CDG IIk" RELATED [OMIM:614727]
synonym: "CDG syndrome type IIk" EXACT [Orphanet:314667]
synonym: "CDG-IIk" EXACT [Orphanet:314667]
synonym: "CDG2K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614727, Orphanet:314667]
synonym: "congenital disorder of glycosylation type 2k" EXACT [Orphanet:314667]
synonym: "congenital disorder of glycosylation type IIk" EXACT [Orphanet:314667]
synonym: "congenital disorder of glycosylation, type IIk" RELATED [MONDO:Lexical, OMIM:614727]
synonym: "TMEM165-CDG" EXACT ABBREVIATION [Orphanet:314667]
synonym: "TMEM165-CDG (CDG-IIk)" RELATED [GARD:0012413]
synonym: "TMEM165-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0070263 {source="MONDO:equivalentTo"}
xref: GARD:12413 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:314667", source="Orphanet:314667/attributed", source="Orphanet:314667/ntbt"}
xref: MEDGEN:766485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614727 {source="Orphanet:314667", source="MONDO:equivalentTo", source="Orphanet:314667/e"}
xref: Orphanet:314667 {source="MONDO:equivalentTo", source="OMIM:614727"}
xref: SCTID:732252005 {source="MONDO:equivalentTo"}
xref: UMLS:C3553571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766485"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005501 {source="DC-OMIM:614727", source="OMIM:614727"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0017740 {source="Orphanet:314667"} ! disorder of protein N-glycosylation
relationship: disease_has_feature HP:0004349 {source="Orphanet:314667"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:314667", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30760 {source="MONDO:mim2gene_medgen"} ! TMEM165
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013871
name: Seckel syndrome 6
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP63 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL6" EXACT ABBREVIATION [DOID:0070006, MONDO:Lexical, OMIM:614728]
synonym: "Seckel syndrome 6" EXACT [MONDO:Lexical, OMIM:614728]
synonym: "Seckel syndrome caused by mutation in CEP63" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 6" EXACT [MONDORULE:1, OMIM:614728]
xref: DOID:0070006 {source="MONDO:equivalentTo"}
xref: MEDGEN:766496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614728 {source="MONDO:equivalentTo", source="DOID:0070006"}
xref: UMLS:C3553582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766496"}
is_a: MONDO:0019342 {source="DC-OMIM:614728", source="DOID:0070006", source="MONDO:Redundant", source="OMIM:614728"} ! Seckel syndrome
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25815 ! CEP63
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614728"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25815 {source="MONDO:mim2gene_medgen"} ! CEP63

[Term]
id: MONDO:0013872
name: prostate cancer, hereditary, 2
def: "Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15839", source="MONDO:GARD"}
subset: rare
synonym: "ELAC2 familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial prostate cancer caused by mutation in ELAC2" EXACT [MONDO:design_pattern]
synonym: "HPC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614731]
synonym: "prostate cancer, hereditary, 2" EXACT [MONDO:Lexical, OMIM:614731]
synonym: "prostate cancer, hereditary, 2, susceptibility to" EXACT [OMIM:614731, OMIM:genemap2]
synonym: "prostate cancer, hereditary, type 2" EXACT [MONDORULE:1, OMIM:614731]
xref: GARD:15839 {source="MONDO:GARD"}
xref: MEDGEN:761328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614731 {source="MONDO:equivalentTo"}
xref: UMLS:C3539120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761328"}
is_a: MONDO:0008315 {source="DC-OMIM:614731", source="MONDO:0013872/inferred", source="MONDO:Redundant"} ! prostate cancer
is_a: MONDO:0023122 {source="MONDO:Redundant"} ! familial prostate carcinoma
intersection_of: MONDO:0023122 ! familial prostate carcinoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 ! ELAC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 {source="MONDO:mim2gene_medgen"} ! ELAC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013873
name: IMAGe syndrome
def: "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." [Orphanet:85173]
subset: gard_rare {source="GARD:12312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85173"}
subset: ordo_malformation_syndrome {source="Orphanet:85173"}
subset: orphanet_rare {source="Orphanet:85173"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMAGe syndrome" EXACT [OMIM:614732]
synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [DOID:0050885]
synonym: "intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies" RELATED [GARD:0012312]
synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" RELATED [OMIM:614732]
synonym: "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" EXACT [Orphanet:85173]
xref: DOID:0050885 {source="MONDO:equivalentTo"}
xref: GARD:12312 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:85173/attributed", source="Orphanet:85173/ntbt", source="Orphanet:85173"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:337364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200406 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C130988 {source="MONDO:equivalentTo"}
xref: OMIM:614732 {source="Orphanet:85173/e", source="DOID:0050885", source="MONDO:equivalentTo", source="Orphanet:85173"}
xref: Orphanet:85173 {source="OMIM:614732", source="MONDO:equivalentTo"}
xref: SCTID:702384004 {source="MONDO:equivalentTo"}
xref: UMLS:C1846009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337364"}
is_a: MONDO:0002254 {source="DOID:0050885", source="MONDO:Redundant", source="NCIT:C130988"} ! syndromic disease
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
relationship: excluded_subClassOf MONDO:0005495 {source="Orphanet:85173", source="https://orcid.org/0000-0001-5208-3432"} ! adrenal gland disorder
relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:85173", source="https://orcid.org/0000-0001-5208-3432"} ! chronic primary adrenal insufficiency
relationship: excluded_subClassOf MONDO:0015620 {source="Orphanet:85173", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic urogenital tract malformation
relationship: excluded_subClassOf MONDO:0019699 {source="Orphanet:85173", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete slender bone dysplasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1786 {source="MONDO:mim2gene_medgen"} ! CDKN1C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12312/image-syndrome" xsd:anyURI {source="GARD:0012312"}

[Term]
id: MONDO:0013874
name: glucocorticoid deficiency 4
def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15840", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial glucocorticoid deficiency caused by mutation in NNT" EXACT [MONDO:design_pattern]
synonym: "GCCD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614736]
synonym: "glucocorticoid deficiency 4" EXACT [MONDO:Lexical, OMIM:614736]
synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" RELATED [OMIM:614736]
synonym: "glucocorticoid deficiency 4, with or without mineralocorticoid deficiency" EXACT [OMIM:614736, OMIM:genemap2]
synonym: "glucocorticoid deficiency type 4" EXACT [MONDORULE:1, OMIM:614736]
synonym: "NNT familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15840 {source="MONDO:GARD"}
xref: MEDGEN:766501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131452 {source="MONDO:equivalentTo"}
xref: OMIM:614736 {source="MONDO:equivalentTo"}
xref: Orphanet:361 {source="OMIM:614736"}
xref: UMLS:C3553587 {source="MEDGEN:766501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:614736", source="Orphanet:361/btnt"} ! familial glucocorticoid deficiency
intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7863 ! NNT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7863 {source="MONDO:mim2gene_medgen"} ! NNT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013875
name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
def: "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Present because it is in the OMIM series. {source="OMIM:614739"}
subset: gard_rare {source="GARD:12963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352328"}
subset: orphanet_rare {source="Orphanet:352328"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-methylglutaconic aciduria caused by mutation in SERAC1" EXACT [MONDO:design_pattern]
synonym: "3-methylglutaconic aciduria type 6" EXACT [DOID:0110001]
synonym: "3-methylglutaconic aciduria type VI" RELATED [GARD:0012963]
synonym: "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614739]
synonym: "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome" EXACT [Orphanet:352328]
synonym: "3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome" RELATED [OMIM:614739]
synonym: "3-Methylglutaconic aciduria, type 6" RELATED [OMIM:614739]
synonym: "3-MGCA type IV (formerly)" RELATED [GARD:0012963]
synonym: "3-MGCA-4 (formerly)" RELATED [GARD:0012963]
synonym: "MEGDEL" EXACT ABBREVIATION [DOID:0110001, MONDO:Lexical, OMIM:614739]
synonym: "MEGDEL syndrome" EXACT [DOID:0110001]
synonym: "MGCA6" EXACT ABBREVIATION [DOID:0110001]
synonym: "SERAC1 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SERAC1 defect" RELATED [GARD:0012963]
xref: DOID:0110001 {source="MONDO:equivalentTo"}
xref: GARD:12963 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:352328", source="Orphanet:352328/attributed", source="Orphanet:352328/ntbt", source="DOID:0110001"}
xref: MEDGEN:873604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614739 {source="Orphanet:352328/e", source="MONDO:equivalentTo", source="Orphanet:352328", source="DOID:0110001"}
xref: Orphanet:352328 {source="MONDO:equivalentTo", source="OMIM:614739", source="DOID:0110001"}
xref: SCTID:711409002 {source="MONDO:equivalentTo"}
xref: UMLS:C4040739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:873604"}
is_a: MONDO:0017359 {source="DC-OMIM:614739", source="DOID:0110001", source="MONDO:Redundant", source="OMIM:614739", source="Orphanet:352328"} ! 3-methylglutaconic aciduria
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0044970 ! mitochondrial disease
is_a: MONDO:0100548 {source="https://orcid.org/0000-0002-9698-992X"} ! SERAC1-related neurological disorder
intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21061 ! SERAC1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21061 {source="MONDO:mim2gene_medgen"} ! SERAC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7274" xsd:anyURI

[Term]
id: MONDO:0013876
name: basal cell carcinoma, susceptibility to, 7
def: "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "basal cell carcinoma 7" EXACT [OMIM:614740, OMIM:genemap2]
synonym: "basal cell carcinoma, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:614740]
synonym: "basal cell carcinoma, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:614740]
synonym: "BCC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614740]
synonym: "skin basal cell carcinoma caused by mutation in TP53" EXACT [MONDO:design_pattern]
synonym: "susceptibility to basal cell carcinoma 7" RELATED [OMIM:614740]
synonym: "TP53 skin basal cell carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:766520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614740 {source="MONDO:equivalentTo"}
xref: UMLS:C3553606 {source="MEDGEN:766520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100047 {source="https://orcid.org/0000-0001-5208-3432"} ! basal cell carcinoma, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 ! TP53
intersection_of: predisposes_towards MONDO:0005341 ! skin basal cell carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013877
name: mitochondrial pyruvate carrier deficiency
def: "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation." [PMID:22628558]
subset: gard_rare {source="GARD:17771", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447784"}
subset: orphanet_rare {source="Orphanet:447784"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial pyruvate carrier deficiency" EXACT [MONDO:Lexical, OMIM:614741]
synonym: "MPYCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614741]
xref: DOID:0080363 {source="MONDO:equivalentTo"}
xref: GARD:17771 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:447784/attributed", source="Orphanet:447784/ntbt", source="Orphanet:447784"}
xref: MEDGEN:766521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614741 {source="Orphanet:447784/e", source="MONDO:equivalentTo", source="Orphanet:447784"}
xref: Orphanet:447784 {source="MONDO:equivalentTo"}
xref: UMLS:C3553607 {source="MEDGEN:766521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 {source="https://github.com/monarch-initiative/mondo/issues/1573"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016789 {source="Orphanet:447784"} ! pyruvate metabolism disorder
relationship: has_characteristic HP:0000007 {source="PMID:22628558"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21606 {source="MONDO:mim2gene_medgen"} ! MPC1

[Term]
id: MONDO:0013878
name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PFBMFT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614742]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT" EXACT [MONDO:design_pattern]
synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1" RELATED [OMIM:614742]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" EXACT [MONDO:Lexical, OMIM:614742]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1" EXACT [MONDORULE:1, OMIM:614742]
synonym: "TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: EFO:1001501 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:766531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614742 {source="MONDO:equivalentTo"}
xref: Orphanet:88 {source="OMIM:614742", source="MONDO:relatedTo"}
xref: UMLS:C3553617 {source="MEDGEN:766531", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000148 {source="DC-OMIM:614742", source="MONDO:Redundant", source="OMIM:614742"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 ! TERT
relationship: excluded_subClassOf MONDO:0008345 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete idiopathic pulmonary fibrosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 {source="MONDO:mim2gene_medgen"} ! TERT

[Term]
id: MONDO:0013879
name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aplastic anaemia" BROAD OMO:0003005 []
synonym: "aplastic anemia" BROAD [OMIM:614743, OMIM:genemap2]
synonym: "PFBMFT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614743]
synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2" RELATED [OMIM:614743]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2" EXACT [MONDO:Lexical, OMIM:614743]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2" EXACT [MONDORULE:1, OMIM:614743]
synonym: "pulmonary fibrosis, idiopathic, susceptibility to" RELATED [OMIM:614743, OMIM:genemap2]
xref: MEDGEN:766536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614743 {source="MONDO:equivalentTo"}
xref: Orphanet:88 {source="MONDO:relatedTo", source="OMIM:614743"}
xref: UMLS:C3553622 {source="MONDO:equivalentTo", source="MEDGEN:766536", source="MONDO:MEDGEN"}
is_a: MONDO:0000148 {source="DC-OMIM:614743", source="MONDO:Redundant", source="OMIM:614743"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
is_a: MONDO:0100137 {source="https://github.com/monarch-initiative/mondo/issues/1631#issuecomment-641087429"} ! telomere syndrome
intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11727 ! TERC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11727 {source="MONDO:mim2gene_medgen"} ! TERC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013880
name: facial paresis, hereditary congenital, 3
def: "Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1" EXACT [MONDO:design_pattern]
synonym: "facial paresis, hereditary congenital, 3" EXACT [MONDO:Lexical, OMIM:614744]
synonym: "facial paresis, hereditary congenital, type 3" EXACT [MONDORULE:1, OMIM:614744]
synonym: "HCFP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614744]
synonym: "HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18437 {source="MONDO:GARD"}
xref: MEDGEN:766539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614744 {source="MONDO:equivalentTo"}
xref: Orphanet:306530 {source="OMIM:614744"}
xref: UMLS:C3553625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766539"}
is_a: MONDO:0017627 {source="MONDO:Redundant", source="Orphanet:306530/btnt"} ! congenital hereditary facial paralysis-variable hearing loss syndrome
intersection_of: MONDO:0017627 ! congenital hereditary facial paralysis-variable hearing loss syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5111 ! HOXB1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5111 {source="MONDO:mim2gene_medgen"} ! HOXB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013881
name: epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
def: "A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair." [https://orcid.org/0000-0001-5208-3432, Orphanet:306504]
subset: gard_rare {source="GARD:17377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306504"}
subset: orphanet_rare {source="Orphanet:306504"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ILNEB syndrome" EXACT [Orphanet:306504]
synonym: "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" EXACT [Orphanet:306504]
synonym: "congenital NEP syndrome" EXACT [Orphanet:306504]
synonym: "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" EXACT CLINGEN_LABEL [Orphanet:306504]
synonym: "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome" EXACT [Orphanet:306504]
synonym: "ILNEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614748]
synonym: "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" RELATED [MONDO:Lexical, OMIM:614748]
synonym: "JEB with respiratory and renal involvement" EXACT [Orphanet:306504]
synonym: "JEB-RR" EXACT [Orphanet:306504]
synonym: "junctional epidermolysis bullosa with respiratory and renal involvement" RELATED [Orphanet:306504]
xref: GARD:17377 {source="MONDO:GARD"}
xref: MEDGEN:1388385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614748 {source="Orphanet:306504", source="MONDO:equivalentTo", source="Orphanet:306504/e"}
xref: Orphanet:306504 {source="MONDO:equivalentTo", source="OMIM:614748"}
xref: UMLS:C4518785 {source="MEDGEN:1388385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0017612 {source="OMIM:614748", source="Orphanet:306504"} ! junctional epidermolysis bullosa
relationship: excluded_subClassOf MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:306504", source="Orphanet:306504/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! respiratory system disorder
relationship: excluded_subClassOf MONDO:0017015 {source="Orphanet:306504", source="https://orcid.org/0000-0001-5208-3432"} ! primary interstitial lung disease specific to childhood
relationship: excluded_subClassOf MONDO:0019723 {source="Orphanet:306504", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disease of glomerular basement membrane
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6139 {source="MONDO:mim2gene_medgen"} ! ITGA3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013882
name: hyperphosphatasia with intellectual disability syndrome 2
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glycosylphosphatidylinositol biosynthesis defect 6" RELATED [OMIM:614749]
synonym: "HPMRS2" RELATED DEPRECATED [MONDO:Lexical, OMIM:614749]
synonym: "hyperphosphatasia with intellectual disability syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614749]
synonym: "hyperphosphatasia with intellectual disability syndrome type 2" EXACT [MONDORULE:1, OMIM:614749]
synonym: "hyperphosphatasia with mental retardation syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:614749]
synonym: "hyperphosphatasia with mental retardation syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614749]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO" EXACT [MONDO:design_pattern]
synonym: "PIGO hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070434 {source="MONDO:equivalentTo"}
xref: GARD:18351 {source="MONDO:GARD"}
xref: MEDGEN:766551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614749 {source="MONDO:equivalentTo"}
xref: Orphanet:247262 {source="OMIM:614749"}
xref: UMLS:C3553637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766551"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614749", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23215 ! PIGO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23215 {source="MONDO:mim2gene_medgen"} ! PIGO

[Term]
id: MONDO:0013883
name: congenital myasthenic syndrome 13
def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18452", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS13" EXACT ABBREVIATION [DOID:0110676, MONDO:Lexical, OMIM:614750]
synonym: "CMSTA2" EXACT ABBREVIATION [DOID:0110676]
synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT [DOID:0110676]
synonym: "congenital myasthenic syndrome type 13" EXACT [DOID:0110676, MONDORULE:2]
synonym: "congenital myasthenic syndrome with tubular aggregates 2" EXACT [DOID:0110676]
synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1" EXACT [MONDO:design_pattern]
synonym: "DPAGT1 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myasthenic syndrome, congenital, 13" RELATED [MONDO:Lexical, OMIM:614750]
synonym: "myasthenic syndrome, congenital, 13, with tubular aggregates" EXACT [OMIM:614750, OMIM:genemap2]
synonym: "myasthenic syndrome, congenital, type 13" EXACT [MONDORULE:2, OMIM:614750]
synonym: "myasthenic syndrome, congenital, with tubular aggregates 2" RELATED [OMIM:614750]
xref: DOID:0110676 {source="MONDO:equivalentTo"}
xref: GARD:18452 {source="MONDO:GARD"}
xref: MEDGEN:766559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614750 {source="DOID:0110676", source="MONDO:equivalentTo"}
xref: Orphanet:353327 {source="OMIM:614750"}
xref: Orphanet:590 {source="OMIM:614750"}
xref: UMLS:C3553645 {source="MEDGEN:766559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000182 {source="DC-OMIM:614750", source="OMIM:614750"} ! congenital myasthenic syndrome with tubular aggregates
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2995 {source="MONDO:mim2gene_medgen"} ! DPAGT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013884
name: neuronopathy, distal hereditary motor, type 5B
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18267", source="MONDO:GARD"}
subset: rare
synonym: "dHMN 5B" RELATED [OMIM:614751]
synonym: "HMN 5B" RELATED [OMIM:614751]
synonym: "HMN5B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614751]
synonym: "neuronopathy, distal hereditary motor caused by mutation in REEP1" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type VB" RELATED [MONDO:Lexical, OMIM:614751]
synonym: "neuropathy, distal hereditary motor, type 5B" RELATED [OMIM:614751]
synonym: "REEP1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spinal muscular atrophy, distal, type 5B" RELATED [OMIM:614751]
xref: DOID:0111205 {source="MONDO:equivalentTo"}
xref: GARD:18267 {source="MONDO:GARD"}
xref: MEDGEN:766570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614751 {source="MONDO:equivalentTo"}
xref: Orphanet:139536 {source="OMIM:614751"}
xref: UMLS:C3553656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766570"}
is_a: MONDO:0100350 {source="DC-OMIM:614751", source="MONDO:Redundant"} ! neuronopathy, distal hereditary motor, type 5
intersection_of: MONDO:0100350 ! neuronopathy, distal hereditary motor, type 5
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25786 ! REEP1
relationship: excluded_subClassOf MONDO:0015353 {source="Orphanet:139536/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! neuronopathy, distal hereditary motor, type 5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25786 {source="MONDO:mim2gene_medgen"} ! REEP1

[Term]
id: MONDO:0013885
name: Malan overgrowth syndrome
def: "A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness." [Orphanet:420179]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13811", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420179"}
subset: ordo_malformation_syndrome {source="Orphanet:420179"}
subset: orphanet_rare {source="Orphanet:420179"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Malan syndrome" RELATED [OMIM:614753]
synonym: "Sotos syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:614753, Orphanet:420179]
synonym: "Sotos syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614753]
synonym: "SOTOS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614753]
xref: DOID:0112102 {source="MONDO:equivalentTo"}
xref: GARD:13811 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:420179", source="Orphanet:420179/attributed", source="Orphanet:420179/ntbt"}
xref: MEDGEN:766574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614753 {source="Orphanet:420179", source="MONDO:equivalentTo", source="Orphanet:420179/e"}
xref: Orphanet:420179 {source="OMIM:614753", source="MONDO:equivalentTo"}
xref: SCTID:763795006 {source="MONDO:equivalentTo"}
xref: UMLS:C3553660 {source="MEDGEN:766574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:420179"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019716 {source="Orphanet:420179", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0019349 {source="OMIM:614753", source="https://orcid.org/0000-0001-5208-3432"} ! Sotos syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7788 {source="MONDO:mim2gene_medgen"} ! NFIX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6321" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013886
name: cerebellar dysfunction with variable cognitive and behavioral abnormalities
def: "Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)." [Orphanet:314647]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314647"}
subset: orphanet_rare {source="Orphanet:314647"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAMTA1-related disorder" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:38044714]
synonym: "CANPMR" EXACT DEPRECATED [MONDO:Lexical, OMIM:614756]
synonym: "cerebellar ataxia, nonprogressive, with intellectual disability" EXACT [MONDO:Lexical, OMIM:614756]
synonym: "cerebellar ataxia, nonprogressive, with mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:614756]
synonym: "cerebellar dysfunction with variable cognitive and behavioral abnormalities" EXACT [OMIM:614756, OMIM:genemap2]
synonym: "non-progressive cerebellar ataxia with intellectual disability" EXACT [Orphanet:314647]
synonym: "nonprogressive cerebellar ataxia with intellectual disability" EXACT CLINGEN_LABEL [DOID:0050998]
synonym: "nonprogressive cerebellar ataxia with mental retardation" EXACT DEPRECATED [DOID:0050998]
xref: DOID:0050998 {source="MONDO:equivalentTo"}
xref: GARD:17429 {source="MONDO:GARD"}
xref: ICD10CM:G11.0 {source="Orphanet:314647/attributed", source="Orphanet:314647/ntbt", source="Orphanet:314647"}
xref: MEDGEN:766575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614756 {source="Orphanet:314647", source="MONDO:equivalentTo", source="DOID:0050998", source="Orphanet:314647/e"}
xref: Orphanet:314647 {source="MONDO:equivalentTo", source="OMIM:614756"}
xref: SCTID:723441001 {source="MONDO:equivalentTo"}
xref: UMLS:C3553661 {source="MEDGEN:766575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:314647"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18806 {source="MONDO:mim2gene_medgen"} ! CAMTA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6163" xsd:anyURI

[Term]
id: MONDO:0013887
name: heterotaxy, visceral, 6, autosomal
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "heterotaxy, visceral, 6, autosomal" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614779]
synonym: "heterotaxy, visceral, 6, autosomal recessive" EXACT [OMIM:614779, OMIM:genemap2]
synonym: "HTX6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614779]
xref: MEDGEN:766590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614779 {source="MONDO:equivalentTo"}
xref: Orphanet:450 {source="OMIM:614779"}
xref: UMLS:C3553676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766590"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018677 {source="DC-OMIM:614779", source="OMIM:614779"} ! visceral heterotaxy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26530 {source="MONDO:mim2gene_medgen"} ! CFAP53
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013888
name: tremor, hereditary essential, 4
def: "Any essential tremor in which the cause of the disease is a mutation in the FUS gene." [MONDO:patterns/disease_series_by_gene]
synonym: "essential tremor caused by mutation in FUS" EXACT [MONDO:design_pattern]
synonym: "essential tremor, hereditary, 4" EXACT [OMIM:614782, OMIM:genemap2]
synonym: "ETM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614782]
synonym: "FUS essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "tremor, hereditary essential, 4" EXACT [MONDO:Lexical, OMIM:614782]
synonym: "tremor, hereditary essential, type 4" EXACT [MONDORULE:1, OMIM:614782]
xref: DOID:0111431 {source="MONDO:equivalentTo"}
xref: MEDGEN:761337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614782 {source="MONDO:equivalentTo"}
xref: Orphanet:862 {source="OMIM:614782"}
xref: UMLS:C3539195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761337"}
is_a: MONDO:0003233 {source="DC-OMIM:614782", source="MONDO:Redundant", source="OMIM:614782"} ! essential tremor
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0003233 ! essential tremor
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 ! FUS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 {source="MONDO:mim2gene_medgen"} ! FUS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013889
name: short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
subset: gard_rare {source="GARD:10945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391677"}
subset: ordo_malformation_syndrome {source="Orphanet:391677"}
subset: orphanet_rare {source="Orphanet:391677"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short stature with optic atrophy and Pelger-Huët anomaly syndrome" RELATED [GARD:0010945]
synonym: "short stature, optic nerve atrophy, and Pelger-Huet anomaly" RELATED [MONDO:Lexical, OMIM:614800]
synonym: "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome" EXACT CLINGEN_LABEL []
synonym: "short stature-optic atrophy-Pelger-Huët anomaly syndrome" RELATED [Orphanet:391677]
synonym: "soph" RELATED [MONDO:Lexical, OMIM:614800]
synonym: "soph syndrome" EXACT [Orphanet:391677]
xref: GARD:10945 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:391677/attributed", source="Orphanet:391677/ntbt", source="Orphanet:391677"}
xref: MEDGEN:762020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614800 {source="Orphanet:391677/e", source="MONDO:equivalentTo", source="Orphanet:391677"}
xref: Orphanet:391677 {source="MONDO:equivalentTo", source="OMIM:614800"}
xref: UMLS:C3541319 {source="MEDGEN:762020", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:391677", source="Orphanet:391677/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15625 {source="MONDO:mim2gene_medgen"} ! NBAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013890
name: congenital myopathy with internal nuclei and atypical cores
def: "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients." [Orphanet:319160]
subset: gard_rare {source="GARD:17443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319160"}
subset: orphanet_rare {source="Orphanet:319160"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "centronuclear myopathy 4" EXACT [OMIM:614807, OMIM:genemap2]
synonym: "centronuclear myopathy type 4" EXACT [Orphanet:319160]
synonym: "CNM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614807, Orphanet:319160]
synonym: "myopathy, centronuclear, 4" RELATED [MONDO:Lexical, OMIM:614807]
synonym: "myopathy, centronuclear, type 4" EXACT [MONDORULE:1, OMIM:614807]
xref: DOID:0111224 {source="MONDO:equivalentTo"}
xref: GARD:17443 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:319160/attributed", source="Orphanet:319160/ntbt", source="Orphanet:319160"}
xref: MEDGEN:1642424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614807 {source="Orphanet:319160", source="MONDO:equivalentTo", source="Orphanet:319160/e"}
xref: Orphanet:319160 {source="MONDO:equivalentTo", source="OMIM:614807"}
xref: SCTID:764945007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642424"}
is_a: MONDO:0018947 {source="DC-OMIM:614807", source="OMIM:614807"} ! centronuclear myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14153 {source="MONDO:mim2gene_medgen"} ! CCDC78
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013891
name: amyotrophic lateral sclerosis type 18
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15841", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALS18" EXACT ABBREVIATION [DOID:0060209, MONDO:Lexical, OMIM:614808]
synonym: "amyotrophic lateral sclerosis 18" EXACT [DOID:0060209, MONDO:Lexical, OMIM:614808]
synonym: "amyotrophic lateral sclerosis caused by mutation in PFN1" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 18" EXACT CLINGEN_LABEL [MONDORULE:2, OMIM:614808]
synonym: "PFN1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060209 {source="MONDO:equivalentTo"}
xref: GARD:15841 {source="MONDO:GARD"}
xref: MEDGEN:766633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614808 {source="MONDO:equivalentTo", source="DOID:0060209"}
xref: Orphanet:803 {source="OMIM:614808"}
xref: UMLS:C3553719 {source="MEDGEN:766633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="DOID:0060209", source="MONDO:Redundant", source="OMIM:614808"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8881 ! PFN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8881 {source="MONDO:mim2gene_medgen"} ! PFN1

[Term]
id: MONDO:0013892
name: C3 glomerulonephritis
def: "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease." [NCIT:P378]
subset: gard_rare {source="GARD:16487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:329931"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:329931"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CFHR5 deficiency" RELATED [OMIM:614809]
synonym: "complement-mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123043]
synonym: "nephropathy due to CFHR5 deficiency" EXACT [OMIM:614809, OMIM:genemap2]
xref: GARD:16487 {source="MONDO:GARD"}
xref: ICD10CM:N00.5 {source="Orphanet:329931/attributed", source="Orphanet:329931/ntbt", source="Orphanet:329931"}
xref: MEDGEN:884569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123043 {source="MONDO:equivalentTo"}
xref: OMIM:614809 {source="Orphanet:329931/e", source="MONDO:equivalentTo", source="Orphanet:329931"}
xref: Orphanet:329918 {source="OMIM:614809"}
xref: Orphanet:329931 {source="MONDO:equivalentTo", source="OMIM:614809"}
xref: Orphanet:54370 {source="OMIM:614809"}
xref: UMLS:C4055342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:884569"}
is_a: MONDO:0002462 {source="MONDO:Redundant", source="NCIT:C123043"} ! glomerulonephritis
is_a: MONDO:0018013 {source="Orphanet:329931"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24668 {source="MONDO:mim2gene_medgen"} ! CFHR5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013893
name: multiple sclerosis, susceptibility to, 5
def: "Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "MS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614810]
synonym: "multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A" EXACT [MONDO:design_pattern]
synonym: "multiple sclerosis, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:614810]
synonym: "multiple sclerosis, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:614810]
synonym: "susceptibility to multiple sclerosis 5" RELATED [OMIM:614810]
synonym: "TNFRSF1A multiple sclerosis, susceptibility to" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:766642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614810 {source="MONDO:equivalentTo"}
xref: Orphanet:802 {source="OMIM:614810"}
xref: UMLS:C3553728 {source="MEDGEN:766642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007462 {source="MONDO:Redundant", source="OMIM:614810"} ! multiple sclerosis, susceptibility to
is_a: MONDO:0020573 {source="OMIM:614810"} ! inherited disease susceptibility
intersection_of: MONDO:0007462 ! multiple sclerosis, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11916 ! TNFRSF1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11916 {source="MONDO:mim2gene_medgen"} ! TNFRSF1A
relationship: predisposes_towards MONDO:0005301 ! multiple sclerosis

[Term]
id: MONDO:0013894
name: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
def: "Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene." [PMID:26791357]
subset: gard_rare {source="GARD:17419", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314394"}
subset: orphanet_rare {source="Orphanet:314394"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" RELATED [MONDO:Lexical, OMIM:614813]
synonym: "soft" RELATED [MONDO:Lexical, OMIM:614813]
synonym: "soft syndrome" EXACT [OMIM:614813, Orphanet:314394]
xref: GARD:17419 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:314394/attributed", source="Orphanet:314394/ntbt", source="Orphanet:314394"}
xref: MEDGEN:762199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614813 {source="Orphanet:314394/e", source="MONDO:equivalentTo", source="Orphanet:314394"}
xref: Orphanet:314394 {source="MONDO:equivalentTo", source="OMIM:614813"}
xref: UMLS:C3542022 {source="MEDGEN:762199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:26791357", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0800063 {source="PMID:26791357", source="https://orcid.org/0009-0001-6494-4831"} ! primordial dwarfism and slender bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24488 {source="MONDO:mim2gene_medgen"} ! POC1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0013895
name: Adams-Oliver syndrome 3
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15842", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Adams-Oliver syndrome 3" EXACT [MONDO:Lexical, OMIM:614814]
synonym: "Adams-Oliver syndrome caused by mutation in RBPJ" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 3" EXACT [MONDORULE:1, OMIM:614814]
synonym: "AOS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614814]
synonym: "RBPJ Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15842 {source="MONDO:GARD"}
xref: MEDGEN:766662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614814 {source="MONDO:equivalentTo"}
xref: Orphanet:974 {source="OMIM:614814"}
xref: UMLS:C3553748 {source="MEDGEN:766662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:614814", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0007034 ! Adams-Oliver syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5724 ! RBPJ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5724 {source="MONDO:mim2gene_medgen"} ! RBPJ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013896
name: Joubert syndrome 18
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15843", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS18" EXACT ABBREVIATION [DOID:0110987, MONDO:Lexical, OMIM:614815]
synonym: "Joubert syndrome 18" EXACT [MONDO:Lexical, OMIM:614815]
synonym: "Joubert syndrome caused by mutation in TCTN3" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 18" EXACT [DOID:0110987, MONDORULE:2, OMIM:614815]
synonym: "TCTN3 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110987 {source="MONDO:equivalentTo"}
xref: GARD:15843 {source="MONDO:GARD"}
xref: MEDGEN:766672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614815 {source="DOID:0110987", source="MONDO:equivalentTo"}
xref: Orphanet:2754 {source="OMIM:614815"}
xref: UMLS:C3553758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766672"}
is_a: MONDO:0018772 {source="DOID:0110987", source="MONDO:Redundant", source="OMIM:614815"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24519 ! TCTN3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24519 {source="MONDO:mim2gene_medgen"} ! TCTN3

[Term]
id: MONDO:0013897
name: Loeys-Dietz syndrome 4
def: "Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" RELATED [OMIM:614816]
synonym: "LDS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614816]
synonym: "Loeys-Dietz syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614816]
synonym: "Loeys-Dietz syndrome caused by mutation in TGFB2" EXACT [MONDO:design_pattern]
synonym: "Loeys-Dietz syndrome type 4" EXACT [MONDORULE:1, OMIM:614816]
synonym: "TGFB2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070233 {source="MONDO:equivalentTo"}
xref: GARD:10588 {source="MONDO:GARD"}
xref: MEDGEN:766676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614816 {source="MONDO:equivalentTo"}
xref: Orphanet:91387 {source="OMIM:614816"}
xref: UMLS:C3553762 {source="MEDGEN:766676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018954 {source="MONDO:Redundant", source="OMIM:614816"} ! Loeys-Dietz syndrome
intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11768 ! TGFB2
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614816"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11768 {source="MONDO:mim2gene_medgen"} ! TGFB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013898
name: karyomegalic interstitial nephritis
def: "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:11003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401996"}
subset: orphanet_rare {source="Orphanet:401996"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FAN1 interstitial nephritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "interstitial nephritis caused by mutation in FAN1" EXACT [MONDO:design_pattern]
synonym: "interstitial nephritis, karyomegalic" RELATED [MONDO:Lexical, OMIM:614817]
synonym: "karyomegalic interstitial nephritis" EXACT CLINGEN_LABEL []
synonym: "kin" EXACT [DOID:0060911, Orphanet:401996]
synonym: "KMIN" EXACT ABBREVIATION [DOID:0060911, MONDO:Lexical, OMIM:614817]
synonym: "systemic karyomegaly" EXACT [Orphanet:401996]
xref: DOID:0060911 {source="MONDO:equivalentTo"}
xref: GARD:11003 {source="MONDO:GARD"}
xref: ICD10CM:N11.8 {source="Orphanet:401996", source="Orphanet:401996/attributed", source="Orphanet:401996/ntbt", source="DOID:0060911"}
xref: MEDGEN:766688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173626 {source="MONDO:equivalentTo"}
xref: OMIM:614817 {source="Orphanet:401996", source="MONDO:equivalentTo", source="Orphanet:401996/e", source="DOID:0060911"}
xref: Orphanet:401996 {source="MONDO:equivalentTo", source="DOID:0060911", source="OMIM:614817"}
xref: UMLS:C3553774 {source="MEDGEN:766688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001085 {source="DOID:0060911", source="MONDO:Redundant"} ! interstitial nephritis
is_a: MONDO:0005334 {source="https://orcid.org/0000-0001-6330-7526"} ! hereditary nephritis
intersection_of: MONDO:0001085 ! interstitial nephritis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29170 ! FAN1
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:401996", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29170 {source="MONDO:mim2gene_medgen"} ! FAN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6646" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis" xsd:anyURI {source="GARD:0011003"}

[Term]
id: MONDO:0013899
name: Weill-Marchesani syndrome 3
def: "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LTBP2 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Weill-Marchesani syndrome 3" EXACT [MONDO:Lexical, OMIM:614819]
synonym: "Weill-Marchesani syndrome 3, recessive" EXACT [OMIM:614819, OMIM:genemap2]
synonym: "Weill-Marchesani syndrome caused by mutation in LTBP2" EXACT [MONDO:design_pattern]
synonym: "Weill-Marchesani syndrome type 3" EXACT [MONDORULE:1, OMIM:614819]
synonym: "WMS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614819]
xref: GARD:15844 {source="MONDO:GARD"}
xref: MEDGEN:766699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614819 {source="MONDO:equivalentTo"}
xref: Orphanet:3449 {source="OMIM:614819"}
xref: UMLS:C3553785 {source="MEDGEN:766699", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018096 {source="DC-OMIM:614819", source="MONDO:Redundant", source="OMIM:614819"} ! Weill-Marchesani syndrome
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
is_a: MONDO:0100236 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2-related ocular dysgenesis
intersection_of: MONDO:0018096 ! Weill-Marchesani syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 ! LTBP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="MONDO:mim2gene_medgen"} ! LTBP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI

[Term]
id: MONDO:0013900
name: alternating hemiplegia of childhood 2
def: "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15845", source="MONDO:GARD"}
subset: rare
synonym: "AHC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614820]
synonym: "alternating hemiplegia of childhood 2" EXACT [MONDO:Lexical, OMIM:614820]
synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A3" EXACT [MONDO:design_pattern]
synonym: "alternating hemiplegia of childhood type 2" EXACT [MONDORULE:1, OMIM:614820]
synonym: "ATP1A3 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15845 {source="MONDO:GARD"}
xref: MEDGEN:766702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614820 {source="MONDO:equivalentTo"}
xref: Orphanet:2131 {source="OMIM:614820"}
xref: UMLS:C3553788 {source="MEDGEN:766702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016241 {source="DC-OMIM:614820", source="MONDO:Redundant", source="OMIM:614820"} ! alternating hemiplegia of childhood
intersection_of: MONDO:0016241 ! alternating hemiplegia of childhood
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 ! ATP1A3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 {source="MONDO:mim2gene_medgen"} ! ATP1A3

[Term]
id: MONDO:0013901
name: spermatogenic failure 10
def: "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18401", source="MONDO:GARD"}
subset: rare
synonym: "azoospermia caused by mutation in SEPT12" EXACT [MONDO:design_pattern]
synonym: "SEPT12 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 10" EXACT [MONDO:Lexical, OMIM:614822]
synonym: "spermatogenic failure type 10" EXACT [MONDORULE:2, OMIM:614822]
synonym: "spermatogenic failure with defective sperm annulus" RELATED [OMIM:614822]
synonym: "SPGF10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614822]
xref: DOID:0070178 {source="MONDO:equivalentTo"}
xref: GARD:18401 {source="MONDO:GARD"}
xref: MEDGEN:766707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614822 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:614822"}
xref: UMLS:C3553793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766707"}
is_a: MONDO:0004983 {source="DC-OMIM:614822", source="MONDO:Redundant", source="OMIM:614822"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 ! SEPTIN12
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26348 ! SEPTIN12
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 {source="MONDO:mim2gene_medgen"} ! SEPTIN12
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26348 {source="MONDO:mim2gene_medgen"} ! SEPTIN12

[Term]
id: MONDO:0013902
name: aortic valve disease 2
def: "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18471", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aortic valve disease 2" EXACT [MONDO:Lexical, OMIM:614823]
synonym: "aortic valve disease caused by mutation in SMAD6" EXACT [MONDO:design_pattern]
synonym: "aortic valve disease type 2" EXACT [MONDORULE:1, OMIM:614823]
synonym: "aortic valve stenosis" RELATED [OMIM:614823]
synonym: "AOVD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614823]
synonym: "bicuspid aortic valve" RELATED [OMIM:614823]
synonym: "SMAD6 aortic valve disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080334 {source="MONDO:equivalentTo"}
xref: GARD:18471 {source="MONDO:GARD"}
xref: MEDGEN:762200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614823 {source="DOID:0080334", source="MONDO:equivalentTo"}
xref: Orphanet:402075 {source="OMIM:614823"}
xref: UMLS:C3542024 {source="MEDGEN:762200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003803 {source="MONDO:Redundant", source="OMIM:614823"} ! aortic valve disorder
is_a: MONDO:0007194 {source="Orphanet:402075/btnt"} ! familial bicuspid aortic valve
intersection_of: MONDO:0003803 ! aortic valve disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6772 ! SMAD6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6772 {source="MONDO:mim2gene_medgen"} ! SMAD6

[Term]
id: MONDO:0013903
name: nystagmus 7, congenital, autosomal dominant
synonym: "NYS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614826]
synonym: "NYSTAGMUS 7, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614826]
xref: DOID:0111791 {source="MONDO:equivalentTo"}
xref: MEDGEN:766715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614826 {source="MONDO:equivalentTo"}
xref: Orphanet:651 {source="OMIM:614826"}
xref: UMLS:C3553801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766715"}
is_a: MONDO:0005712 {source="DC-OMIM:614826", source="OMIM:614826"} ! congenital nystagmus

[Term]
id: MONDO:0013904
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15846", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614830]
synonym: "muscle-eye-brain-POMGNT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8" RELATED [OMIM:614830]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" EXACT [MONDO:Lexical, OMIM:614830]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8" EXACT [OMIM:614830, OMIM:genemap2]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2" EXACT [MONDO:design_pattern]
synonym: "POMGNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related" RELATED [OMIM:614830]
xref: DOID:0111231 {source="MONDO:equivalentTo"}
xref: GARD:15846 {source="MONDO:GARD"}
xref: MEDGEN:766727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614830 {source="MONDO:equivalentTo"}
xref: Orphanet:899 {source="OMIM:614830", source="MONDO:relatedTo"}
xref: UMLS:C3553813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766727"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:614830", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0700069 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT2
intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25902 ! POMGNT2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25902 {source="MONDO:mim2gene_medgen"} ! POMGNT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013905
name: autosomal recessive spinocerebellar ataxia 13
def: "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." [Orphanet:324262]
subset: gard_rare {source="GARD:17481", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:324262"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1" EXACT []
synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" EXACT [Orphanet:324262]
synonym: "autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" RELATED [Orphanet:324262]
synonym: "autosomal recessive spinocerebellar ataxia 13" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive spinocerebellar ataxia type 13" EXACT [DOID:0080062, MONDORULE:2, Orphanet:324262]
synonym: "GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCAR13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614831, Orphanet:324262]
synonym: "spinocerebellar ataxia, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:614831]
synonym: "spinocerebellar ataxia, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:614831]
xref: DOID:0080062 {source="MONDO:equivalentTo"}
xref: GARD:17481 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:324262", source="Orphanet:324262/attributed", source="Orphanet:324262/ntbt"}
xref: MEDGEN:766730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614831 {source="Orphanet:324262/e", source="MONDO:equivalentTo", source="Orphanet:324262", source="DOID:0080062"}
xref: Orphanet:324262 {source="OMIM:614831", source="MONDO:equivalentTo"}
xref: Orphanet:363429 {source="OMIM:614831"}
xref: UMLS:C3553816 {source="MEDGEN:766730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018189 {source="MONDO:Redundant", source="Orphanet:324262"} ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
intersection_of: MONDO:0018189 ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4593 ! GRM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4593 {source="MONDO:mim2gene_medgen"} ! GRM1

[Term]
id: MONDO:0013906
name: amelogenesis imperfecta hypomaturation type 2A4
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15847", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AI2A4" EXACT ABBREVIATION [DOID:0110062, MONDO:Lexical, OMIM:614832]
synonym: "amelogenesis imperfecta caused by mutation in ODAPH" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation type IIA4" EXACT [DOID:0110062]
synonym: "amelogenesis imperfecta type IIA4" EXACT [DOID:0110062]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA4" RELATED [MONDO:Lexical, OMIM:614832]
synonym: "amelogenesis imperfecta, type IIA4" EXACT [OMIM:614832, OMIM:genemap2]
synonym: "ODAPH amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110062 {source="MONDO:equivalentTo"}
xref: GARD:15847 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110062"}
xref: MEDGEN:766744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614832 {source="DOID:0110062", source="MONDO:equivalentTo"}
xref: Orphanet:100033 {source="OMIM:614832"}
xref: UMLS:C3553830 {source="MEDGEN:766744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2
is_a: MONDO:0019507 {source="DOID:0110062", source="MONDO:Redundant", source="OMIM:614832"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26300 ! ODAPH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26300 {source="MONDO:mim2gene_medgen"} ! ODAPH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013907
name: bilateral generalized polymicrogyria
def: "Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria]
subset: gard_rare {source="GARD:10786", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:208447"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral generalized polymicrogyria" EXACT CLINGEN_LABEL [GARD:0010786]
synonym: "microcephaly, short stature, and polymicrogyria with or without seizures" RELATED [OMIM:614833]
synonym: "microcephaly, short stature, and polymicrogyria with seizures" EXACT [OMIM:614833, OMIM:genemap2]
synonym: "MSSP" RELATED ABBREVIATION [OMIM:614833]
synonym: "PMGYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614833]
synonym: "polymicrogyria with seizures" RELATED [MONDO:Lexical, OMIM:614833]
xref: DOID:0080920 {source="MONDO:equivalentTo"}
xref: GARD:10786 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:208447/attributed", source="Orphanet:208447/ntbt", source="Orphanet:208447"}
xref: MEDGEN:1684616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:208447 {source="MONDO:equivalentTo"}
xref: Orphanet:268940 {source="OMIM:614833"}
xref: UMLS:C5139324 {source="MEDGEN:1684616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017091 {source="Orphanet:208447"} ! bilateral polymicrogyria
is_a: MONDO:0018764 ! microcephalic primordial dwarfism due to RTTN deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18654 {source="MONDO:mim2gene_medgen"} ! RTTN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria" xsd:anyURI {source="GARD:0010786"}

[Term]
id: MONDO:0013908
name: thyrotoxic periodic paralysis, susceptibility to, 3
subset: predisposition
synonym: "thyrotoxic periodic paralysis, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:614834]
synonym: "TTPP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614834]
xref: MEDGEN:766753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614834 {source="MONDO:equivalentTo"}
xref: Orphanet:79102 {source="OMIM:614834"}
xref: UMLS:C3553839 {source="MEDGEN:766753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:614834", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0019201 {source="OMIM:614834", source="https://orcid.org/0000-0001-5208-3432"} ! thyrotoxic periodic paralysis
relationship: predisposes_towards MONDO:0019201 {source="OMIM:614834"} ! thyrotoxic periodic paralysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013909
name: human herpesvirus 8, susceptibility to
synonym: "HHV-8, susceptibility to" RELATED [OMIM:614836]
synonym: "HHV8S" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614836]
synonym: "HUMAN HERPESVIRUS 8, susceptibility to" RELATED [MONDO:Lexical, OMIM:614836]
xref: MEDGEN:766754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614836 {source="MONDO:equivalentTo"}
xref: UMLS:C3553840 {source="MEDGEN:766754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:614836"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:614836", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005187 ! human herpesvirus 8 infection
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013910
name: hypogonadotropic hypogonadism 8 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15849", source="MONDO:GARD"}
subset: rare
synonym: "HH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614837]
synonym: "hypogonadotropic hypogonadism 8 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614837]
synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1R" EXACT [MONDO:design_pattern]
synonym: "KISS1R hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090074 {source="MONDO:equivalentTo"}
xref: GARD:15849 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="DOID:0090074", source="MONDO:relatedTo"}
xref: MEDGEN:766755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614837 {source="DOID:0090074", source="MONDO:equivalentTo"}
xref: Orphanet:478 {source="OMIM:614837"}
xref: UMLS:C3553841 {source="MEDGEN:766755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090074", source="MONDO:Redundant", source="OMIM:614837"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 ! KISS1R
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 {source="MONDO:mim2gene_medgen"} ! KISS1R

[Term]
id: MONDO:0013911
name: hypogonadotropic hypogonadism 9 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15850", source="MONDO:GARD"}
subset: rare
synonym: "HH9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614838]
synonym: "hypogonadotropic hypogonadism 9 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614838]
synonym: "hypogonadotropic hypogonadism caused by mutation in NSMF" EXACT [MONDO:design_pattern]
synonym: "NSMF hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090085 {source="MONDO:equivalentTo"}
xref: GARD:15850 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="DOID:0090085", source="MONDO:relatedTo"}
xref: MEDGEN:766756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614838 {source="DOID:0090085", source="MONDO:equivalentTo"}
xref: UMLS:C3553842 {source="MONDO:equivalentTo", source="MEDGEN:766756", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090085", source="MONDO:Redundant", source="OMIM:614838"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29843 ! NSMF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29843 {source="MONDO:mim2gene_medgen"} ! NSMF

[Term]
id: MONDO:0013912
name: hypogonadotropic hypogonadism 10 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18600", source="MONDO:GARD"}
subset: rare
synonym: "HH10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614839]
synonym: "hypogonadotropic hypogonadism 10 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614839]
synonym: "hypogonadotropic hypogonadism caused by mutation in TAC3" EXACT [MONDO:design_pattern]
synonym: "TAC3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090089 {source="MONDO:equivalentTo"}
xref: GARD:18600 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090089"}
xref: MEDGEN:766757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614839 {source="DOID:0090089", source="MONDO:equivalentTo"}
xref: UMLS:C3553843 {source="MEDGEN:766757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090089", source="MONDO:Redundant", source="OMIM:614839"} ! hypogonadotropic hypogonadism
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11521 ! TAC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11521 {source="MONDO:mim2gene_medgen"} ! TAC3

[Term]
id: MONDO:0013913
name: hypogonadotropic hypogonadism 11 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15851", source="MONDO:GARD"}
subset: rare
synonym: "HH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614840]
synonym: "hypogonadotropic hypogonadism 11 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614840]
synonym: "hypogonadotropic hypogonadism caused by mutation in TACR3" EXACT [MONDO:design_pattern]
synonym: "TACR3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090071 {source="MONDO:equivalentTo"}
xref: GARD:15851 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090071"}
xref: MEDGEN:766758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614840 {source="MONDO:equivalentTo", source="DOID:0090071"}
xref: UMLS:C3553844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766758"}
is_a: MONDO:0018555 {source="DOID:0090071", source="MONDO:Redundant", source="OMIM:614840"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11528 ! TACR3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11528 {source="MONDO:mim2gene_medgen"} ! TACR3

[Term]
id: MONDO:0013914
name: hypogonadotropic hypogonadism 12 with or without anosmia
def: "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21." [DOID:0090072, PMID:19535795]
subset: gard_rare {source="GARD:276", source="MONDO:GARD"}
subset: rare
synonym: "eunuchoidism familial hypogonadotropic" RELATED [GARD:0000276]
synonym: "eunuchoidism, familial hypogonadotropic" EXACT [OMIM:614841]
synonym: "familial hypogonadotrophic eunuchoidism" EXACT [DOID:0090072]
synonym: "familial hypogonadotropic eunuchoidism" RELATED [GARD:0000276]
synonym: "familial idiopathic gonadotrpin deficiency" EXACT [DOID:0090072]
synonym: "FIGD" RELATED ABBREVIATION [GARD:0000276]
synonym: "gonadotropin deficiency familial idiopathic" RELATED [GARD:0000276]
synonym: "gonadotropin deficiency, familial idiopathic" RELATED [OMIM:614841]
synonym: "HH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614841]
synonym: "hypogonadotropic hypogonadism 12 with or without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614841]
xref: DOID:0090072 {source="MONDO:equivalentTo"}
xref: GARD:276 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090072"}
xref: MEDGEN:347328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535764 {source="MONDO:equivalentTo"}
xref: OMIM:227200 {source="GARD:0000276", source="MONDO:equivalentObsolete"}
xref: OMIM:614841 {source="MONDO:equivalentTo", source="DOID:0090072"}
xref: Orphanet:1958 {source="GARD:0000276"}
xref: UMLS:C1856897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347328"}
is_a: MONDO:0018555 {source="DOID:0090072", source="OMIM:614841"} ! hypogonadotropic hypogonadism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/276/eunuchoidism-familial-hypogonadotropic" xsd:anyURI {source="GARD:0000276"}

[Term]
id: MONDO:0013915
name: hypogonadotropic hypogonadism 13 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18601", source="MONDO:GARD"}
subset: rare
synonym: "HH13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614842]
synonym: "hypogonadotropic hypogonadism 13 with or without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614842]
synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1" EXACT [MONDO:design_pattern]
synonym: "KISS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090073 {source="MONDO:equivalentTo"}
xref: GARD:18601 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="DOID:0090073", source="MONDO:relatedTo"}
xref: MEDGEN:762090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614842 {source="DOID:0090073", source="MONDO:equivalentTo"}
xref: UMLS:C3541462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762090"}
is_a: MONDO:0018555 {source="DOID:0090073", source="MONDO:Redundant", source="OMIM:614842"} ! hypogonadotropic hypogonadism
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6341 ! KISS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6341 {source="MONDO:mim2gene_medgen"} ! KISS1

[Term]
id: MONDO:0013916
name: nephronophthisis 14
def: "Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Joubert syndrome 19" RELATED [OMIM:614844]
synonym: "nephronophthisis (disease) caused by mutation in ZNF423" EXACT []
synonym: "nephronophthisis 14" EXACT [MONDO:Lexical, OMIM:614844]
synonym: "nephronophthisis type 14" EXACT [DOID:0111122, MONDORULE:2, OMIM:614844]
synonym: "NPHP14" EXACT ABBREVIATION [DOID:0111122, MONDO:Lexical, OMIM:614844]
synonym: "ZNF423 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111122 {source="MONDO:equivalentTo"}
xref: MEDGEN:761313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614844 {source="MONDO:equivalentTo", source="DOID:0111122"}
xref: Orphanet:2318 {source="MONDO:relatedTo", source="OMIM:614844"}
xref: UMLS:C3539071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761313"}
is_a: MONDO:0019005 {source="DC-OMIM:614844", source="DOID:0111122", source="MONDO:Redundant", source="OMIM:614844"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16762 ! ZNF423
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614844"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16762 {source="MONDO:mim2gene_medgen"} ! ZNF423

[Term]
id: MONDO:0013917
name: nephronophthisis 15
def: "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15852", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP164 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in CEP164" EXACT []
synonym: "nephronophthisis 15" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614845]
synonym: "nephronophthisis type 15" EXACT [DOID:0111123, MONDORULE:2, OMIM:614845]
synonym: "NPHP15" EXACT ABBREVIATION [DOID:0111123, MONDO:Lexical, OMIM:614845]
xref: DOID:0111123 {source="MONDO:equivalentTo"}
xref: GARD:15852 {source="MONDO:GARD"}
xref: MEDGEN:762112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614845 {source="MONDO:equivalentTo", source="DOID:0111123"}
xref: Orphanet:3156 {source="OMIM:614845"}
xref: UMLS:C3541853 {source="MEDGEN:762112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017842 {source="Orphanet:3156/btnt"} ! Senior-Loken syndrome
is_a: MONDO:0019005 {source="DC-OMIM:614845", source="DOID:0111123", source="MONDO:Redundant", source="OMIM:614845"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29182 ! CEP164
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614845"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29182 {source="MONDO:mim2gene_medgen"} ! CEP164

[Term]
id: MONDO:0013918
name: distal tetrasomy 15q
subset: gard_rare {source="GARD:17424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:314588"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314588"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal tetrasomy type 15q" EXACT [MONDORULE:4, Orphanet:314588]
synonym: "levy-Shanske syndrome" RELATED [OMIM:614846]
synonym: "tetrasomy 15(q25-qter)" EXACT [Orphanet:314588]
synonym: "tetrasomy 15q26" EXACT [OMIM:614846, Orphanet:314588]
synonym: "tetrasomy type 15Q26" EXACT [MONDORULE:7, OMIM:614846]
xref: GARD:17424 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:314588", source="Orphanet:314588/attributed", source="Orphanet:314588/ntbt"}
xref: MEDGEN:766772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614846 {source="Orphanet:314588", source="MONDO:equivalentTo", source="Orphanet:314588/e"}
xref: Orphanet:314585 {source="OMIM:614846"}
xref: Orphanet:314588 {source="MONDO:equivalentTo", source="OMIM:614846"}
xref: UMLS:C3553858 {source="MEDGEN:766772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017806 {source="Orphanet:314588"} ! 15q overgrowth syndrome
relationship: disease_arises_from_structure CHR:9606-chr15q {source="https://orcid.org/0000-0002-4142-7153"} ! 15q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0013919
name: epilepsy, idiopathic generalized, susceptibility to, 12
subset: predisposition
synonym: "EIG12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614847]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:614847]
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 12" EXACT [MONDORULE:2, OMIM:614847]
synonym: "susceptibility to idiopathic generalised epilepsy 12" RELATED OMO:0003005 []
synonym: "susceptibility to idiopathic generalized epilepsy 12" RELATED [OMIM:614847]
xref: DOID:0111313 {source="MONDO:equivalentTo"}
xref: MEDGEN:766773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614847 {source="MONDO:equivalentTo"}
xref: UMLS:C3553859 {source="MEDGEN:766773", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:600669"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:614847", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:614847"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0013920
name: herpes simplex encephalitis, susceptibility to, 3
def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5" RELATED [OMIM:614849]
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5" RELATED [OMIM:614849]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 5" RELATED [OMIM:614849]
synonym: "herpes simplex encephalitis caused by mutation in TRAF3" EXACT [MONDO:design_pattern]
synonym: "herpes simplex encephalitis, susceptibility to, 3" EXACT [OMIM:614849]
synonym: "Herpes simplex encephalitis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614849]
synonym: "IIAE5" RELATED ABBREVIATION [OMIM:614849]
synonym: "TRAF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:766782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614849 {source="MONDO:equivalentTo"}
xref: Orphanet:1930 {source="OMIM:614849"}
xref: UMLS:C3553868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766782"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12033 ! TRAF3
intersection_of: predisposes_towards MONDO:0100198 ! Mendelian encephalopathy
relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:614849", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced
relationship: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12033 {source="MONDO:mim2gene_medgen"} ! TRAF3
relationship: predisposes_towards MONDO:0100198 {source="OMIM:614849"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0013921
name: herpes simplex encephalitis, susceptibility to, 4
def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6" RELATED [OMIM:614850]
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6" RELATED [OMIM:614850]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 6" RELATED [OMIM:614850]
synonym: "herpes simplex encephalitis caused by mutation in TICAM1" EXACT [MONDO:design_pattern]
synonym: "herpes simplex encephalitis, susceptibility to, 4" EXACT [OMIM:614850]
synonym: "Herpes simplex encephalitis, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614850]
synonym: "IIAE6" RELATED ABBREVIATION [OMIM:614850]
synonym: "TICAM1 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:766783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614850 {source="MONDO:equivalentTo"}
xref: Orphanet:1930 {source="OMIM:614850"}
xref: UMLS:C3553869 {source="MEDGEN:766783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18348 ! TICAM1
intersection_of: predisposes_towards MONDO:0100198 ! Mendelian encephalopathy
relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:614850", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced
relationship: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18348 {source="MONDO:mim2gene_medgen"} ! TICAM1
relationship: predisposes_towards MONDO:0100198 {source="OMIM:614850"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0013922
name: Seckel syndrome 7
def: "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." [Orphanet:319675]
comment: ORDO calls this microcephalic primordial dwarfism, Dauber type
subset: gard_rare {source="GARD:17469", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319675"}
subset: ordo_malformation_syndrome {source="Orphanet:319675"}
subset: orphanet_rare {source="Orphanet:319675"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephalic primordial dwarfism, Dauber type" EXACT [Orphanet:319675]
synonym: "NIN Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL7" EXACT ABBREVIATION [DOID:0070011, MONDO:Lexical, OMIM:614851]
synonym: "Seckel syndrome 7" EXACT [MONDO:Lexical, OMIM:614851]
synonym: "Seckel syndrome caused by mutation in NIN" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 7" EXACT [MONDORULE:1, OMIM:614851]
xref: DOID:0070011 {source="MONDO:equivalentTo"}
xref: GARD:17469 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:319675", source="Orphanet:319675/attributed", source="Orphanet:319675/ntbt"}
xref: MEDGEN:766784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614851 {source="Orphanet:319675/e", source="DOID:0070011", source="MONDO:equivalentTo", source="Orphanet:319675"}
xref: Orphanet:319675 {source="OMIM:614851", source="MONDO:equivalentTo"}
xref: UMLS:C3553870 {source="MEDGEN:766784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019342 {source="DC-OMIM:614851", source="DOID:0070011", source="MONDO:Redundant", source="OMIM:614851"} ! Seckel syndrome
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14906 ! NIN
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614851"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14906 {source="MONDO:mim2gene_medgen"} ! NIN

[Term]
id: MONDO:0013923
name: microcephaly 9, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15855", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in CEP152" EXACT [MONDO:design_pattern]
synonym: "CEP152 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614852]
synonym: "microcephaly 9, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614852]
xref: DOID:0070292 {source="MONDO:equivalentTo"}
xref: GARD:15855 {source="MONDO:GARD"}
xref: MEDGEN:766800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614852 {source="MONDO:equivalentTo"}
xref: UMLS:C3553886 {source="MONDO:equivalentTo", source="MEDGEN:766800", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="DC-OMIM:614852", source="MONDO:Redundant", source="OMIM:614852"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 ! CEP152
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 {source="MONDO:mim2gene_medgen"} ! CEP152

[Term]
id: MONDO:0013924
name: osteogenesis imperfecta type 13
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15856", source="MONDO:GARD"}
subset: rare
synonym: "BMP1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OI, type 13" RELATED [OMIM:614856]
synonym: "OI13" EXACT ABBREVIATION [DOID:0110342, MONDO:Lexical, OMIM:614856]
synonym: "osteogenesis imperfecta caused by mutation in BMP1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XIII" EXACT [DOID:0110342]
synonym: "osteogenesis imperfecta, type 13" RELATED [OMIM:614856]
synonym: "osteogenesis imperfecta, type XIII" RELATED [MONDO:Lexical, OMIM:614856]
xref: DOID:0110342 {source="MONDO:equivalentTo"}
xref: GARD:15856 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110342"}
xref: MEDGEN:766801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614856 {source="MONDO:equivalentTo", source="DOID:0110342"}
xref: Orphanet:216812 {source="OMIM:614856", source="MONDO:directSiblingOf"}
xref: UMLS:C3553887 {source="MEDGEN:766801", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:614856", source="DOID:0110342", source="MONDO:Redundant", source="OMIM:614856"} ! osteogenesis imperfecta
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1067 ! BMP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1067 {source="MONDO:mim2gene_medgen"} ! BMP1

[Term]
id: MONDO:0013925
name: methylmalonic acidemia with homocystinuria, type cblJ
subset: gard_rare {source="GARD:12621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:369955"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cblJ defects" EXACT [Orphanet:369955]
synonym: "cobalamin J defect" EXACT [Orphanet:369955]
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" EXACT [Orphanet:369955]
synonym: "MAHCJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614857]
synonym: "methylmalonic acidemia with homocystinuria type cblJ" RELATED [GARD:0012621]
synonym: "methylmalonic aciduria and homocystinuria, cblJ type" RELATED [GARD:0012621, MONDO:Lexical, OMIM:614857]
synonym: "methylmalonic aciduria with homocystinuria, type cblJ" EXACT [Orphanet:369955]
xref: GARD:12621 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:369955/attributed", source="Orphanet:369955/ntbt", source="Orphanet:369955"}
xref: MEDGEN:766829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614857 {source="Orphanet:369955", source="MONDO:equivalentTo", source="Orphanet:369955/e"}
xref: Orphanet:26 {source="OMIM:614857"}
xref: Orphanet:369955 {source="MONDO:equivalentTo", source="OMIM:614857"}
xref: UMLS:C3553915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766829"}
is_a: MONDO:0016826 {source="DC-OMIM:614857", source="Orphanet:369955"} ! methylmalonic aciduria and homocystinuria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/68 {source="MONDO:mim2gene_medgen"} ! ABCD4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj" xsd:anyURI {source="GARD:0012621"}

[Term]
id: MONDO:0013926
name: hypogonadotropic hypogonadism 14 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15857", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HH14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614858]
synonym: "hypogonadotropic hypogonadism 14 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614858]
synonym: "hypogonadotropic hypogonadism caused by mutation in WDR11" EXACT [MONDO:design_pattern]
synonym: "WDR11 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090087 {source="MONDO:equivalentTo"}
xref: GARD:15857 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="DOID:0090087", source="MONDO:relatedTo"}
xref: MEDGEN:761703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614858 {source="DOID:0090087", source="MONDO:equivalentTo"}
xref: UMLS:C3540450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761703"}
is_a: MONDO:0018555 {source="DOID:0090087", source="MONDO:Redundant", source="OMIM:614858"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13831 ! WDR11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13831 {source="MONDO:mim2gene_medgen"} ! WDR11

[Term]
id: MONDO:0013927
name: peroxisome biogenesis disorder 3A (Zellweger)
subset: gard_rare {source="GARD:15858", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614859]
synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614859]
synonym: "peroxisome biogenesis disorder, complementation group 3" RELATED [OMIM:614859]
xref: DOID:0080478 {source="MONDO:equivalentTo"}
xref: GARD:15858 {source="MONDO:GARD"}
xref: MEDGEN:766843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566633 {source="MONDO:equivalentTo"}
xref: NCIT:C155752 {source="MONDO:equivalentTo"}
xref: OMIM:614859 {source="MONDO:equivalentTo"}
xref: Orphanet:912 {source="OMIM:614859"}
xref: UMLS:C3553929 {source="MEDGEN:766843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100266 {source="DC-OMIM:614859", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX12 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013927/inferred", source="MONDO:Redundant", source="OMIM:614859", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8854 {source="MONDO:mim2gene_medgen"} ! PEX12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013928
name: dystonia 23
def: "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420492"}
subset: orphanet_rare {source="Orphanet:420492"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset cervical dystonia, DYT23 type" RELATED [Orphanet:420492]
synonym: "CACNA1B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dystonia 23" EXACT [MONDO:Lexical, OMIM:614860, Orphanet:420492]
synonym: "dystonia type 23" EXACT [DOID:0090051, MONDORULE:2, OMIM:614860]
synonym: "dystonic disorder caused by mutation in CACNA1B" EXACT [MONDO:design_pattern]
synonym: "DYT23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614860, Orphanet:420492]
xref: DOID:0090051 {source="MONDO:equivalentTo"}
xref: GARD:17694 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="DOID:0090051", source="Orphanet:420492/attributed", source="Orphanet:420492/ntbt", source="Orphanet:420492"}
xref: MEDGEN:761274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614860 {source="DOID:0090051", source="Orphanet:420492/e", source="MONDO:equivalentTo", source="Orphanet:420492"}
xref: Orphanet:420492 {source="DOID:0090051", source="OMIM:614860", source="MONDO:equivalentTo"}
xref: UMLS:C3538999 {source="MEDGEN:761274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000477 {source="DOID:0090051"} ! focal dystonia
is_a: MONDO:0015990 {source="Orphanet:420492"} ! focal, segmental or multifocal dystonia
is_a: MONDO:0044807 {source="DOID:0090051/inferred", source="MONDO:Redundant", source="OMIM:614860"} ! inherited dystonia
intersection_of: MONDO:0044807 ! inherited dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1389 ! CACNA1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1389 {source="MONDO:mim2gene_medgen"} ! CACNA1B

[Term]
id: MONDO:0013929
name: autosomal recessive nonsyndromic hearing loss 98
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 98" NARROW [DOID:0110540]
synonym: "autosomal recessive nonsyndromic deafness 98" NARROW [OMIM:614861]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 98" NARROW [DOID:0110540, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 98" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 98" NARROW [MONDO:Lexical, OMIM:614861, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 98" NARROW [MONDORULE:2, OMIM:614861]
synonym: "DFNB98" NARROW ABBREVIATION [DOID:0110540, MONDO:Lexical, OMIM:614861]
synonym: "TSPEAR autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110540 {source="MONDO:equivalentTo"}
xref: GARD:22644 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110540"}
xref: MEDGEN:766846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614861 {source="MONDO:equivalentTo", source="DOID:0110540"}
xref: UMLS:C3553932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766846"}
is_a: MONDO:0019588 {source="DC-OMIM:614861", source="DOID:0110540", source="MONDO:Redundant", source="OMIM:614861"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1268 ! TSPEAR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1268 {source="MONDO:mim2gene_medgen"} ! TSPEAR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013930
name: peroxisome biogenesis disorder 4A (Zellweger)
subset: gard_rare {source="GARD:15859", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PBD4A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614862]
synonym: "peroxisome biogenesis disorder 4A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614862]
synonym: "peroxisome biogenesis disorder, complementation group 4" RELATED [OMIM:614862]
synonym: "peroxisome biogenesis disorder, complementation group 6" RELATED [OMIM:614862]
synonym: "peroxisome biogenesis disorder, complementation group C" RELATED [OMIM:614862]
xref: DOID:0080479 {source="MONDO:equivalentTo"}
xref: GARD:15859 {source="MONDO:GARD"}
xref: MEDGEN:766850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563301 {source="MONDO:equivalentTo"}
xref: NCIT:C155754 {source="MONDO:equivalentTo"}
xref: OMIM:614862 {source="MONDO:equivalentTo"}
xref: UMLS:C3553936 {source="MEDGEN:766850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100263 {source="DC-OMIM:614862", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX6 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013930/inferred", source="MONDO:Redundant", source="OMIM:614862", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic HP:0012828 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Severe
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8859 {source="MONDO:mim2gene_medgen"} ! PEX6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013931
name: peroxisome biogenesis disorder 4B
subset: gard_rare {source="GARD:15860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-classic peroxisome biogenesis disorder" BROAD [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PBD4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614863]
synonym: "peroxisome biogenesis disorder 4B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614863]
synonym: "peroxisome biogenesis disorder type 4B" EXACT [MONDORULE:4, OMIM:614863]
xref: DOID:0081433 {source="MONDO:equivalentTo"}
xref: GARD:15860 {source="MONDO:GARD"}
xref: MEDGEN:766851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155755 {source="MONDO:equivalentTo"}
xref: OMIM:614863 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:614863"}
xref: Orphanet:772 {source="OMIM:614863"}
xref: UMLS:C3553937 {source="MEDGEN:766851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100263 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX6 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614863", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic HP:0012826 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Moderate
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8859 {source="MONDO:mim2gene_medgen"} ! PEX6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013932
name: peroxisome biogenesis disorder 5A (Zellweger)
subset: gard_rare {source="GARD:15861", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD5A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614866]
synonym: "peroxisome biogenesis disorder 5A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614866]
synonym: "peroxisome biogenesis disorder, complementation group 10" RELATED [OMIM:614866]
synonym: "peroxisome biogenesis disorder, complementation group 5" RELATED [OMIM:614866]
synonym: "peroxisome biogenesis disorder, complementation group F" RELATED [OMIM:614866]
xref: DOID:0080480 {source="MONDO:equivalentTo"}
xref: GARD:15861 {source="MONDO:GARD"}
xref: MEDGEN:766854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155756 {source="MONDO:equivalentTo"}
xref: OMIM:614866 {source="MONDO:equivalentTo"}
xref: UMLS:C3553940 {source="MEDGEN:766854", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100260 {source="DC-OMIM:614866", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX2 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013932/inferred", source="MONDO:Redundant", source="OMIM:614866", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9717 {source="MONDO:mim2gene_medgen"} ! PEX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013933
name: peroxisome biogenesis disorder 5B
subset: gard_rare {source="GARD:15862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PBD5B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614867]
synonym: "peroxisome biogenesis disorder 5B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614867]
synonym: "peroxisome biogenesis disorder type 5B" EXACT [MONDORULE:4, OMIM:614867]
xref: DOID:0081434 {source="MONDO:equivalentTo"}
xref: GARD:15862 {source="MONDO:GARD"}
xref: MEDGEN:762202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155757 {source="MONDO:equivalentTo"}
xref: OMIM:614867 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:614867"}
xref: Orphanet:772 {source="OMIM:614867"}
xref: UMLS:C3542026 {source="MONDO:equivalentTo", source="MEDGEN:762202", source="MONDO:MEDGEN"}
is_a: MONDO:0100260 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX2 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614867", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9717 {source="MONDO:mim2gene_medgen"} ! PEX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013934
name: combined immunodeficiency due to STK4 deficiency
def: "A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." [https://orcid.org/0000-0001-5208-3432, Orphanet:314689]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17430", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314689"}
subset: orphanet_rare {source="Orphanet:314689"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CID due to STK4 deficiency" EXACT [Orphanet:314689]
synonym: "MST1 deficiency" EXACT [OMIM:614868]
synonym: "STK4 deficiency" EXACT [OMIM:614868]
synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations" RELATED [MONDO:Lexical, OMIM:614868]
synonym: "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" EXACT [OMIM:614868, OMIM:genemap2]
synonym: "TIIAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614868]
xref: GARD:17430 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:314689", source="Orphanet:314689/attributed", source="Orphanet:314689/ntbt"}
xref: MEDGEN:766857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614868 {source="Orphanet:314689", source="MONDO:equivalentTo", source="Orphanet:314689/e"}
xref: Orphanet:314689 {source="MONDO:equivalentTo", source="OMIM:614868"}
xref: UMLS:C3553943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766857"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:314689", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11408 {source="MONDO:mim2gene_medgen"} ! STK4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013935
name: Usher syndrome type 1J
def: "Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CIB2 Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "USH1J" EXACT ABBREVIATION [DOID:0110836, MONDO:Lexical, OMIM:614869]
synonym: "Usher syndrome caused by mutation in CIB2" EXACT [MONDO:design_pattern]
synonym: "Usher syndrome type Ij" EXACT [DOID:0110836]
synonym: "Usher syndrome, type 1J" RELATED [OMIM:614869]
synonym: "USHER syndrome, type Ij" RELATED [MONDO:Lexical, OMIM:614869]
xref: DOID:0110836 {source="MONDO:equivalentTo"}
xref: GARD:15863 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110836"}
xref: MEDGEN:766858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614869 {source="MONDO:equivalentTo", source="DOID:0110836"}
xref: Orphanet:231169 {source="OMIM:614869"}
xref: Orphanet:886 {source="OMIM:614869"}
xref: UMLS:C3553944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766858"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
is_a: MONDO:0019501 {source="DOID:0110836/inferred", source="MONDO:Redundant", source="OMIM:614869"} ! Usher syndrome
intersection_of: MONDO:0019501 ! Usher syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 ! CIB2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614869"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 {source="MONDO:mim2gene_medgen"} ! CIB2

[Term]
id: MONDO:0013936
name: peroxisome biogenesis disorder 6A (Zellweger)
subset: gard_rare {source="GARD:15864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD6A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614870]
synonym: "peroxisome biogenesis disorder 6A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614870]
synonym: "peroxisome biogenesis disorder, complementation group 7" RELATED [OMIM:614870]
synonym: "peroxisome biogenesis disorder, complementation group B" RELATED [OMIM:614870]
xref: DOID:0080481 {source="MONDO:equivalentTo"}
xref: GARD:15864 {source="MONDO:GARD"}
xref: MEDGEN:766861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566422 {source="MONDO:equivalentTo"}
xref: NCIT:C155758 {source="MONDO:equivalentTo"}
xref: OMIM:614870 {source="MONDO:equivalentTo"}
xref: Orphanet:912 {source="OMIM:614870"}
xref: UMLS:C3553947 {source="MEDGEN:766861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100264 {source="DC-OMIM:614870", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX10 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013936/inferred", source="MONDO:Redundant", source="OMIM:614870", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8851 {source="MONDO:mim2gene_medgen"} ! PEX10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013937
name: peroxisome biogenesis disorder 6B
subset: gard_rare {source="GARD:15865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD6B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614871]
synonym: "peroxisome biogenesis disorder 6B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614871]
synonym: "peroxisome biogenesis disorder type 6B" EXACT [MONDORULE:4, OMIM:614871]
xref: DOID:0081435 {source="MONDO:equivalentTo"}
xref: GARD:15865 {source="MONDO:GARD"}
xref: MEDGEN:766862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155759 {source="MONDO:equivalentTo"}
xref: OMIM:614871 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:614871"}
xref: Orphanet:772 {source="OMIM:614871"}
xref: UMLS:C3553948 {source="MEDGEN:766862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100264 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX10 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614871", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8851 {source="MONDO:mim2gene_medgen"} ! PEX10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013938
name: peroxisome biogenesis disorder 7A (Zellweger)
subset: gard_rare {source="GARD:15866", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD7A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614872]
synonym: "peroxisome biogenesis disorder 7A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614872]
synonym: "peroxisome biogenesis disorder, complementation group 8" RELATED [OMIM:614872]
synonym: "peroxisome biogenesis disorder, complementation group A" RELATED [OMIM:614872]
xref: DOID:0080482 {source="MONDO:equivalentTo"}
xref: GARD:15866 {source="MONDO:GARD"}
xref: MEDGEN:854881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614872 {source="MONDO:equivalentTo"}
xref: UMLS:C3888385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854881"}
is_a: MONDO:0100271 {source="DC-OMIM:614872", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX26 defect
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013938/inferred", source="MONDO:Redundant", source="OMIM:614872", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22965 {source="MONDO:mim2gene_medgen"} ! PEX26
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013939
name: peroxisome biogenesis disorder 7B
subset: gard_rare {source="GARD:15867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PBD7B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614873]
synonym: "peroxisome biogenesis disorder 7B" EXACT [MONDO:Lexical, OMIM:614873]
synonym: "peroxisome biogenesis disorder type 7B" EXACT [MONDORULE:4, OMIM:614873]
xref: DOID:0081436 {source="MONDO:equivalentTo"}
xref: GARD:15867 {source="MONDO:GARD"}
xref: MEDGEN:766865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155761 {source="MONDO:equivalentTo"}
xref: OMIM:614873 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:614873"}
xref: Orphanet:772 {source="OMIM:614873"}
xref: UMLS:C3553951 {source="MEDGEN:766865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100271 {source="MONDO:Redundant", source="OMIM:614873"} ! peroxisome biogenesis disorder due to PEX26 defect
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22965 {source="MONDO:mim2gene_medgen"} ! PEX26
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013940
name: primary ciliary dyskinesia 18
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15868", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD18" EXACT ABBREVIATION [DOID:0110604, MONDO:Lexical, OMIM:614874]
synonym: "ciliary dyskinesia, primary, 18" RELATED [MONDO:Lexical, OMIM:614874]
synonym: "ciliary dyskinesia, primary, 18, with or without situs inversus" RELATED [OMIM:614874]
synonym: "ciliary dyskinesia, primary, type 18" EXACT [MONDORULE:2, OMIM:614874]
synonym: "DNAAF5 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT [DOID:0110604]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF5" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 18" EXACT [DOID:0110604, MONDORULE:2]
xref: DOID:0110604 {source="MONDO:equivalentTo"}
xref: GARD:15868 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110604"}
xref: MEDGEN:762331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614874 {source="DOID:0110604", source="MONDO:equivalentTo"}
xref: UMLS:C3543825 {source="MEDGEN:762331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:614874", source="DOID:0110604", source="MONDO:Redundant", source="OMIM:614874"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26013 ! DNAAF5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26013 {source="MONDO:mim2gene_medgen"} ! DNAAF5

[Term]
id: MONDO:0013941
name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
def: "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay." [Orphanet:99646]
subset: gard_rare {source="GARD:16902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99646"}
subset: orphanet_rare {source="Orphanet:99646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" EXACT [OMIM:614875]
synonym: "metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria" RELATED [OMIM:614875]
synonym: "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875]
synonym: "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875]
xref: GARD:16902 {source="MONDO:GARD"}
xref: MEDGEN:766872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614875 {source="Orphanet:99646", source="MONDO:equivalentTo", source="Orphanet:99646/e"}
xref: Orphanet:99646 {source="OMIM:614875", source="MONDO:equivalentTo"}
xref: UMLS:C3553958 {source="MEDGEN:766872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:614875"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:99646", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0013942
name: peroxisome biogenesis disorder 8A (Zellweger)
subset: gard_rare {source="GARD:15869", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD8A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614876]
synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614876]
synonym: "peroxisome biogenesis disorder, complementation group 9" RELATED [OMIM:614876]
synonym: "peroxisome biogenesis disorder, complementation group D" RELATED [OMIM:614876]
xref: DOID:0080483 {source="MONDO:equivalentTo"}
xref: GARD:15869 {source="MONDO:GARD"}
xref: MEDGEN:766873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614876 {source="MONDO:equivalentTo"}
xref: UMLS:C3553959 {source="MEDGEN:766873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100269 {source="DC-OMIM:614876", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX16 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013942/inferred", source="MONDO:Redundant", source="OMIM:614876", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8857 {source="MONDO:mim2gene_medgen"} ! PEX16
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013943
name: peroxisome biogenesis disorder 8B
subset: gard_rare {source="GARD:15870", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PBD8B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614877]
synonym: "peroxisome biogenesis disorder 8B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614877]
synonym: "peroxisome biogenesis disorder type 8B" EXACT [MONDORULE:4, OMIM:614877]
xref: DOID:0081437 {source="MONDO:equivalentTo"}
xref: GARD:15870 {source="MONDO:GARD"}
xref: MEDGEN:766874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C155763 {source="MONDO:equivalentTo"}
xref: OMIM:614877 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:614877"}
xref: Orphanet:772 {source="OMIM:614877"}
xref: UMLS:C3553960 {source="MEDGEN:766874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100269 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX16 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614877", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8857 {source="MONDO:mim2gene_medgen"} ! PEX16
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013944
name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
subset: gard_rare {source="GARD:17486", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324530"}
subset: orphanet_rare {source="Orphanet:324530"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "APLAID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614878, Orphanet:324530]
synonym: "autoinflammation, antibody deficiency, and immune dysregulation syndrome" EXACT [OMIM:614878, OMIM:genemap2]
synonym: "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" RELATED [MONDO:Lexical, OMIM:614878]
xref: GARD:17486 {source="MONDO:GARD"}
xref: MEDGEN:766875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200442 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200451 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:614878 {source="Orphanet:324530/e", source="MONDO:equivalentTo", source="Orphanet:324530"}
xref: Orphanet:324530 {source="MONDO:equivalentTo", source="OMIM:614878"}
xref: UMLS:C3553961 {source="MEDGEN:766875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019751 {source="Orphanet:324530"} ! autoinflammatory syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9066 {source="MONDO:mim2gene_medgen"} ! PLCG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013945
name: peroxisome biogenesis disorder 9B
subset: gard_rare {source="GARD:15871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PBD9B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614879]
synonym: "peroxisome biogenesis disorder 9B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614879]
synonym: "peroxisome biogenesis disorder type 9B" EXACT [MONDORULE:4, OMIM:614879]
synonym: "peroxisome biogenesis disorder, complementation group 11" RELATED [OMIM:614879]
synonym: "peroxisome biogenesis disorder, complementation group R" RELATED [OMIM:614879]
synonym: "peroxisome biogenesis disorder, PEX7-related, atypical" RELATED [OMIM:614879]
synonym: "Refsum disease, adult, 2" RELATED [OMIM:614879]
xref: DOID:0081438 {source="MONDO:equivalentTo"}
xref: GARD:15871 {source="MONDO:GARD"}
xref: MEDGEN:440765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614879 {source="MONDO:equivalentTo"}
xref: Orphanet:773 {source="OMIM:614879"}
xref: UMLS:C2749346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440765"}
is_a: MONDO:0019609 {source="DC-OMIM:614879"} ! Zellweger spectrum disorders
relationship: excluded_subClassOf MONDO:0009958 {source="Orphanet:773/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! adult Refsum disease
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013945/inferred", source="MONDO:Redundant", source="OMIM:614879", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 {source="MONDO:mim2gene_medgen"} ! PEX7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013946
name: hypogonadotropic hypogonadism 15 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15872", source="MONDO:GARD"}
subset: rare
synonym: "HH15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614880]
synonym: "HS6ST1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypogonadotropic hypogonadism 15 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614880]
synonym: "hypogonadotropic hypogonadism caused by mutation in HS6ST1" EXACT [MONDO:design_pattern]
xref: DOID:0090075 {source="MONDO:equivalentTo"}
xref: GARD:15872 {source="MONDO:GARD"}
xref: MEDGEN:766891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614880 {source="DOID:0090075", source="MONDO:equivalentTo"}
xref: Orphanet:478 {source="OMIM:614880"}
xref: UMLS:C3553977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766891"}
is_a: MONDO:0018555 {source="DOID:0090075", source="MONDO:Redundant", source="OMIM:614880"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5201 ! HS6ST1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5201 {source="MONDO:mim2gene_medgen"} ! HS6ST1

[Term]
id: MONDO:0013947
name: neuronopathy, distal hereditary motor, autosomal recessive 5
def: "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." [Orphanet:314485]
subset: gard_rare {source="GARD:17421", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314485"}
subset: orphanet_rare {source="Orphanet:314485"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [Orphanet:314485]
synonym: "DSMA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614881]
synonym: "dSMA5" EXACT [Orphanet:314485]
synonym: "spinal muscular atrophy, distal, autosomal recessive, 5" RELATED [MONDO:Lexical, OMIM:614881]
synonym: "spinal muscular atrophy, distal, autosomal recessive, type 5" EXACT [MONDORULE:1, OMIM:614881]
synonym: "Young adult-onset dHMN" EXACT [Orphanet:314485]
synonym: "young adult-onset distal hereditary motor neuropathy" EXACT [Orphanet:314485]
xref: DOID:0111214 {source="MONDO:equivalentTo"}
xref: GARD:17421 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:314485/attributed", source="Orphanet:314485/ntbt", source="Orphanet:314485"}
xref: MEDGEN:1667915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614881 {source="Orphanet:314485/e", source="MONDO:equivalentTo", source="Orphanet:314485"}
xref: Orphanet:314485 {source="MONDO:equivalentTo", source="OMIM:614881"}
xref: UMLS:C4749918 {source="MEDGEN:1667915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DC-OMIM:614881"} ! spinal muscular atrophy
is_a: MONDO:0015363 {source="Orphanet:314485"} ! neuronopathy, distal hereditary motor, autosomal recessive
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5228 {source="MONDO:mim2gene_medgen"} ! DNAJB2

[Term]
id: MONDO:0013948
name: peroxisome biogenesis disorder 10A (Zellweger)
subset: gard_rare {source="GARD:15873", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD10A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614882]
synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614882]
synonym: "peroxisome biogenesis disorder, complementation group 12" RELATED [OMIM:614882]
synonym: "peroxisome biogenesis disorder, complementation group G" RELATED [OMIM:614882]
xref: DOID:0080484 {source="MONDO:equivalentTo"}
xref: GARD:15873 {source="MONDO:GARD"}
xref: MEDGEN:766913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614882 {source="MONDO:equivalentTo"}
xref: Orphanet:912 {source="OMIM:614882"}
xref: UMLS:C3553999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766913"}
is_a: MONDO:0100261 {source="DC-OMIM:614882", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX3 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013948/inferred", source="MONDO:Redundant", source="OMIM:614882", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8858 {source="MONDO:mim2gene_medgen"} ! PEX3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013949
name: peroxisome biogenesis disorder 11A (Zellweger)
subset: gard_rare {source="GARD:15874", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD11A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614883]
synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614883]
synonym: "peroxisome biogenesis disorder, complementation group 13" RELATED [OMIM:614883]
synonym: "peroxisome biogenesis disorder, complementation group H" RELATED [OMIM:614883]
xref: DOID:0080485 {source="MONDO:equivalentTo"}
xref: GARD:15874 {source="MONDO:GARD"}
xref: MEDGEN:766914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614883 {source="MONDO:equivalentTo"}
xref: UMLS:C3554000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766914"}
is_a: MONDO:0100267 {source="DC-OMIM:614883", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX13 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013949/inferred", source="MONDO:Redundant", source="OMIM:614883", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8855 {source="MONDO:mim2gene_medgen"} ! PEX13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013950
name: peroxisome biogenesis disorder 11B
subset: gard_rare {source="GARD:15875", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD11B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614885]
synonym: "peroxisome biogenesis disorder 11B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614885]
synonym: "peroxisome biogenesis disorder type 11B" EXACT [MONDORULE:4, OMIM:614885]
xref: DOID:0081439 {source="MONDO:equivalentTo"}
xref: GARD:15875 {source="MONDO:GARD"}
xref: MEDGEN:766915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614885 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:614885"}
xref: Orphanet:772 {source="OMIM:614885"}
xref: UMLS:C3554001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766915"}
is_a: MONDO:0100267 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX13 defect
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614885", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8855 {source="MONDO:mim2gene_medgen"} ! PEX13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013951
name: peroxisome biogenesis disorder 12A (Zellweger)
subset: gard_rare {source="GARD:15876", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cg14" RELATED [OMIM:614886]
synonym: "Cgj" RELATED [OMIM:614886]
synonym: "PBD12A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614886]
synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614886]
synonym: "peroxisome biogenesis disorder, complementation group 14" RELATED [OMIM:614886]
synonym: "peroxisome biogenesis disorder, complementation group J" RELATED [OMIM:614886]
xref: DOID:0080486 {source="MONDO:equivalentTo"}
xref: GARD:15876 {source="MONDO:GARD"}
xref: MEDGEN:766916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614886 {source="MONDO:equivalentTo"}
xref: UMLS:C3554002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766916"}
is_a: MONDO:0100270 {source="DC-OMIM:614886", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX19 defect
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013951/inferred", source="MONDO:Redundant", source="OMIM:614886", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9713 {source="MONDO:mim2gene_medgen"} ! PEX19
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013952
name: peroxisome biogenesis disorder 13A (Zellweger)
subset: gard_rare {source="GARD:15877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PBD13A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614887]
synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614887]
synonym: "peroxisome biogenesis disorder, complementation group K" RELATED [OMIM:614887]
xref: DOID:0080487 {source="MONDO:equivalentTo"}
xref: GARD:15877 {source="MONDO:GARD"}
xref: MEDGEN:766918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566624 {source="MONDO:equivalentTo"}
xref: OMIM:614887 {source="MONDO:equivalentTo"}
xref: UMLS:C3554004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766918"}
is_a: MONDO:0100268 {source="DC-OMIM:614887", source="MONDO:ORDO-Gene", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX14 defect
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:0013952/inferred", source="MONDO:Redundant", source="OMIM:614887", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100356 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8856 {source="MONDO:mim2gene_medgen"} ! PEX14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013953
name: immunodeficiency 28
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Ifngr2 deficiency" RELATED [OMIM:614889]
synonym: "IFNGR2 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IMD28" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614889]
synonym: "immunodeficiency 28" EXACT [MONDO:Lexical, OMIM:614889]
synonym: "immunodeficiency 28, Mycobacteriosis" RELATED [OMIM:614889]
synonym: "immunodeficiency type 28" EXACT [MONDORULE:2, OMIM:614889]
synonym: "primary immunodeficiency disease caused by mutation in IFNGR2" EXACT [MONDO:design_pattern]
xref: DOID:0111995 {source="MONDO:equivalentTo"}
xref: MEDGEN:862384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614889 {source="MONDO:equivalentTo"}
xref: Orphanet:319547 {source="OMIM:614889"}
xref: Orphanet:319574 {source="OMIM:614889"}
xref: UMLS:C4013947 {source="MEDGEN:862384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DC-OMIM:614889", source="MONDO:Redundant"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0003778 ! inborn error of immunity
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 ! IFNGR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 {source="MONDO:mim2gene_medgen"} ! IFNGR2

[Term]
id: MONDO:0013954
name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." [MONDO:patterns/disease_series_by_gene]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319558"}
subset: orphanet_rare {source="Orphanet:319558"}
subset: predisposition
subset: rare
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B" EXACT []
synonym: "IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IL12B deficiency" RELATED [OMIM:614890]
synonym: "IMD29" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614890]
synonym: "immunodeficiency 29" RELATED [MONDO:Lexical, OMIM:614890]
synonym: "immunodeficiency 29, mycobacteriosis" EXACT [OMIM:614890, OMIM:genemap2]
synonym: "immunodeficiency type 29" EXACT [MONDORULE:2, OMIM:614890]
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [Orphanet:319558]
synonym: "MSMD due to complete IL12B deficiency" EXACT [Orphanet:319558]
synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [Orphanet:319558]
xref: DOID:0111950 {source="MONDO:equivalentTo"}
xref: ICD10CM:D84.8 {source="Orphanet:319558/attributed", source="Orphanet:319558/ntbt", source="Orphanet:319558"}
xref: MEDGEN:862385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614890 {source="Orphanet:319558/e", source="MONDO:equivalentTo", source="Orphanet:319558"}
xref: Orphanet:319558 {source="MONDO:equivalentTo", source="OMIM:614890"}
xref: UMLS:C4013948 {source="MEDGEN:862385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5970 {source="MONDO:mim2gene_medgen"} ! IL12B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013955
name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319552"}
subset: orphanet_rare {source="Orphanet:319552"}
subset: predisposition
subset: rare
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1" EXACT []
synonym: "IL-12Râ1 deficiency" RELATED [GARD:0010984]
synonym: "IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IL12RB1 deficiency" RELATED [OMIM:614891]
synonym: "IMD30" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614891]
synonym: "immunodeficiency 30" RELATED [MONDO:Lexical, OMIM:614891]
synonym: "immunodeficiency type 30" EXACT [MONDORULE:2, OMIM:614891]
synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552]
synonym: "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency" RELATED [GARD:0010984]
synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [Orphanet:319552]
synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552]
xref: DOID:0111990 {source="MONDO:equivalentTo"}
xref: ICD10CM:D84.8 {source="Orphanet:319552", source="Orphanet:319552/attributed", source="Orphanet:319552/ntbt"}
xref: MEDGEN:862386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614891 {source="MONDO:equivalentTo", source="Orphanet:319552", source="Orphanet:319552/e"}
xref: Orphanet:319552 {source="MONDO:equivalentTo", source="OMIM:614891"}
xref: UMLS:C4013949 {source="MEDGEN:862386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5971 {source="MONDO:mim2gene_medgen"} ! IL12RB1

[Term]
id: MONDO:0013956
name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." [https://orcid.org/0000-0001-5208-3432, Orphanet:319595]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319595"}
subset: orphanet_rare {source="Orphanet:319595"}
subset: predisposition
subset: rare
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1" EXACT []
synonym: "IMD31A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614892]
synonym: "immunodeficiency 31A" RELATED [MONDO:Lexical, OMIM:614892]
synonym: "immunodeficiency 31A, Mycobacteriosis, autosomal dominant" RELATED [OMIM:614892]
synonym: "immunodeficiency type 31A" EXACT [MONDORULE:4, OMIM:614892]
synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT [Orphanet:319595]
synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT [Orphanet:319595]
synonym: "MSMD due to partial STAT1 deficiency" EXACT [Orphanet:319595]
synonym: "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Stat1 deficiency, autosomal dominant" RELATED [OMIM:614892]
xref: DOID:0111945 {source="MONDO:equivalentTo"}
xref: ICD10CM:D84.8 {source="Orphanet:319595", source="Orphanet:319595/attributed", source="Orphanet:319595/ntbt"}
xref: MEDGEN:862387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614892 {source="MONDO:equivalentTo", source="Orphanet:319595", source="Orphanet:319595/e"}
xref: Orphanet:319595 {source="MONDO:equivalentTo", source="OMIM:614892"}
xref: UMLS:C4013950 {source="MEDGEN:862387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases
relationship: has_characteristic HP:0000006 {source="OMIM:614892"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 {source="MONDO:mim2gene_medgen"} ! STAT1

[Term]
id: MONDO:0013957
name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
def: "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319600]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319600"}
subset: orphanet_rare {source="Orphanet:319600"}
subset: predisposition
subset: rare
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8" EXACT []
synonym: "CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant" RELATED [OMIM:614893]
synonym: "IMD32A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614893]
synonym: "immunodeficiency 32A" RELATED [MONDO:Lexical, OMIM:614893]
synonym: "immunodeficiency 32A, Mycobacteriosis, autosomal dominant" RELATED [OMIM:614893]
synonym: "immunodeficiency type 32A" EXACT [MONDORULE:4, OMIM:614893]
synonym: "IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IRF8 deficiency, autosomal dominant" RELATED [OMIM:614893]
synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600]
synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600]
synonym: "MSMD due to partial IRF8 deficiency" EXACT [Orphanet:319600]
xref: DOID:0111986 {source="MONDO:equivalentTo"}
xref: ICD10CM:D84.8 {source="Orphanet:319600/attributed", source="Orphanet:319600/ntbt", source="Orphanet:319600"}
xref: MEDGEN:814919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614893 {source="Orphanet:319600/e", source="MONDO:equivalentTo", source="Orphanet:319600"}
xref: Orphanet:319600 {source="OMIM:614893", source="MONDO:equivalentTo"}
xref: UMLS:C3808589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814919"}
is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5358 {source="MONDO:mim2gene_medgen"} ! IRF8

[Term]
id: MONDO:0013958
name: obsolete monocyte and dendritic cell deficiency, autosomal recessive
comment: OMIM merged these
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1710" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009194

[Term]
id: MONDO:0013959
name: Charcot-Marie-Tooth disease type 4F
def: "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones." [Orphanet:99952]
subset: gard_rare {source="GARD:12441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99952"}
subset: orphanet_rare {source="Orphanet:99952"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX" EXACT []
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F" RELATED [MONDO:Lexical, OMIM:614895]
synonym: "Charcot-Marie-Tooth disease, type 4F" EXACT [OMIM:614895, OMIM:genemap2]
synonym: "CMT4F" EXACT ABBREVIATION [DOID:0110193, MONDO:Lexical, OMIM:614895, Orphanet:99952]
synonym: "PRX Charcot-Marie-Tooth disease type 4" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Prx Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern]
xref: DOID:0110193 {source="MONDO:equivalentTo"}
xref: GARD:12441 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99952/attributed", source="Orphanet:99952/ntbt", source="Orphanet:99952", source="DOID:0110193"}
xref: MEDGEN:761704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614895 {source="Orphanet:99952", source="MONDO:equivalentTo", source="DOID:0110193", source="Orphanet:99952/e"}
xref: Orphanet:99952 {source="OMIM:614895", source="MONDO:equivalentTo", source="DOID:0110193"}
xref: SCTID:715801001 {source="MONDO:equivalentTo"}
xref: UMLS:C3540453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761704"}
is_a: MONDO:0015626 {source="DOID:0110193/inferred", source="MONDO:Redundant", source="OMIM:614895", source="Orphanet:99952/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110193", source="MONDO:Redundant", source="Orphanet:99952"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13797 ! PRX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13797 {source="MONDO:mim2gene_medgen"} ! PRX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f" xsd:anyURI {source="GARD:0012441"}

[Term]
id: MONDO:0013960
name: sinoatrial node dysfunction and deafness
def: "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress." [Orphanet:324321]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324321"}
subset: orphanet_rare {source="Orphanet:324321"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SANDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614896]
synonym: "sinoatrial node dysfunction and deafness" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614896]
xref: GARD:17484 {source="MONDO:GARD"}
xref: MEDGEN:766932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614896 {source="Orphanet:324321/e", source="MONDO:equivalentTo", source="Orphanet:324321"}
xref: Orphanet:324321 {source="OMIM:614896", source="MONDO:equivalentTo"}
xref: UMLS:C3554018 {source="MONDO:equivalentTo", source="MEDGEN:766932", source="MONDO:MEDGEN"}
is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease
relationship: disease_has_feature MONDO:0000469 ! sinoatrial node disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1391 {source="MONDO:mim2gene_medgen"} ! CACNA1D

[Term]
id: MONDO:0013961
name: hypogonadotropic hypogonadism 16 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15878", source="MONDO:GARD"}
subset: rare
synonym: "HH16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614897]
synonym: "hypogonadotropic hypogonadism 16 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614897]
synonym: "hypogonadotropic hypogonadism caused by mutation in SEMA3A" EXACT [MONDO:design_pattern]
synonym: "SEMA3A hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090080 {source="MONDO:equivalentTo"}
xref: GARD:15878 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090080"}
xref: MEDGEN:766935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614897 {source="MONDO:equivalentTo", source="DOID:0090080"}
xref: UMLS:C3554021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766935"}
is_a: MONDO:0018555 {source="DOID:0090080", source="MONDO:Redundant", source="OMIM:614897"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10723 ! SEMA3A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10723 {source="MONDO:mim2gene_medgen"} ! SEMA3A

[Term]
id: MONDO:0013962
name: hereditary spastic paraplegia 53
def: "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A." [Orphanet:319199]
subset: gard_rare {source="GARD:17445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319199"}
subset: orphanet_rare {source="Orphanet:319199"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 53" EXACT [DOID:0110805]
synonym: "autosomal recessive spastic paraplegia type 53" EXACT [DOID:0110805]
synonym: "hereditary spastic paraplegia 53" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia type 53" EXACT [DOID:0110805, MONDORULE:2]
synonym: "spastic paraplegia 53, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614898]
synonym: "SPG53" EXACT ABBREVIATION [DOID:0110805, MONDO:Lexical, OMIM:614898, Orphanet:319199]
synonym: "VPS37A autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110805 {source="MONDO:equivalentTo"}
xref: GARD:17445 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110805", source="Orphanet:319199", source="Orphanet:319199/attributed", source="Orphanet:319199/ntbt"}
xref: MEDGEN:761340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614898 {source="MONDO:equivalentTo", source="DOID:0110805", source="Orphanet:319199", source="Orphanet:319199/e"}
xref: Orphanet:319199 {source="OMIM:614898", source="MONDO:equivalentTo", source="DOID:0110805"}
xref: SCTID:723823004 {source="MONDO:equivalentTo"}
xref: UMLS:C3539494 {source="MEDGEN:761340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110805", source="MONDO:Redundant", source="OMIM:614898", source="Orphanet:319199/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24928 {source="MONDO:mim2gene_medgen"} ! VPS37A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0013963
name: autosomal recessive nonsyndromic hearing loss 93
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 93" NARROW [DOID:0110537]
synonym: "autosomal recessive nonsyndromic deafness 93" NARROW [OMIM:614899]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CABP2" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 93" NARROW [DOID:0110537, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 93" EXACT CLINGEN_LABEL []
synonym: "CABP2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 93" NARROW [MONDO:Lexical, OMIM:614899, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 93" NARROW [MONDORULE:2, OMIM:614899]
synonym: "DFNB93" NARROW ABBREVIATION [DOID:0110537, MONDO:Lexical, OMIM:614899]
xref: DOID:0110537 {source="MONDO:equivalentTo"}
xref: GARD:22645 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110537"}
xref: MEDGEN:854875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614899 {source="DOID:0110537", source="MONDO:equivalentTo"}
xref: UMLS:C3888355 {source="MEDGEN:854875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:614899", source="DOID:0110537", source="MONDO:Redundant", source="OMIM:614899"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1385 ! CABP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1385 {source="MONDO:mim2gene_medgen"} ! CABP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013964
name: Diamond-Blackfan anemia 11
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614900]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPL26" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 11" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 11" EXACT [MONDO:Lexical, OMIM:614900]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL26" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 11" EXACT [MONDORULE:2, OMIM:614900]
synonym: "RPL26 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPL26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111892 {source="MONDO:equivalentTo"}
xref: GARD:15879 {source="MONDO:GARD"}
xref: MEDGEN:766956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176920 {source="MONDO:equivalentTo"}
xref: OMIM:614900 {source="MONDO:equivalentTo"}
xref: UMLS:C3554042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766956"}
is_a: MONDO:0015253 {source="DC-OMIM:614900", source="MONDO:Redundant", source="OMIM:614900"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10327 ! RPL26
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10327 {source="MONDO:mim2gene_medgen"} ! RPL26

[Term]
id: MONDO:0013965
name: lethal congenital contracture syndrome 4
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:12645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LCCS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614915]
synonym: "lethal congenital contracture syndrome 4" EXACT [MONDO:Lexical, OMIM:614915]
synonym: "lethal congenital contracture syndrome caused by mutation in MYBPC1" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 4" EXACT [DOID:0060654, MONDORULE:1, OMIM:614915]
synonym: "MYBPC1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060654 {source="MONDO:equivalentTo"}
xref: GARD:12645 {source="MONDO:GARD"}
xref: MEDGEN:766960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614915 {source="MONDO:equivalentTo"}
xref: Orphanet:137783 {source="OMIM:614915", source="MONDO:directSiblingOf"}
xref: UMLS:C3554046 {source="MEDGEN:766960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017436 {source="DC-OMIM:614915", source="DOID:0060654", source="MONDO:Redundant", source="OMIM:614915"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 ! MYBPC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 {source="MONDO:mim2gene_medgen"} ! MYBPC1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4" xsd:anyURI {source="GARD:0012645"}

[Term]
id: MONDO:0013966
name: catecholaminergic polymorphic ventricular tachycardia 4
def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15880", source="MONDO:GARD"}
subset: rare
synonym: "CALM1 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "catecholaminergic polymorphic ventricular tachycardia 4" EXACT CLINGEN_LABEL []
synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1" EXACT [MONDO:design_pattern]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 4" EXACT [DOID:0060678, MONDORULE:1]
synonym: "CPVT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614916]
synonym: "CVPT4" EXACT ABBREVIATION [DOID:0060678]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 4" RELATED [MONDO:Lexical, OMIM:614916]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 4" EXACT [MONDORULE:1, OMIM:614916]
xref: DOID:0060678 {source="MONDO:equivalentTo"}
xref: GARD:15880 {source="MONDO:GARD"}
xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060678"}
xref: MEDGEN:766961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614916 {source="MONDO:equivalentTo", source="DOID:0060678"}
xref: Orphanet:3286 {source="OMIM:614916"}
xref: UMLS:C3554047 {source="MEDGEN:766961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017990 {source="DC-OMIM:614916", source="DOID:0060678", source="MONDO:Redundant", source="OMIM:614916"} ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: MONDO:0017990 ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1442 ! CALM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1442 {source="MONDO:mim2gene_medgen"} ! CALM1

[Term]
id: MONDO:0013967
name: peroxisome biogenesis disorder 14B
subset: gard_rare {source="GARD:15881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peroxisome biogenesis disorder 14B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614920]
synonym: "peroxisome biogenesis disorder type 14B" EXACT [MONDORULE:4, OMIM:614920]
synonym: "PEX11B peroxisome biogenesis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PEX14B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614920]
xref: DOID:0081274 {source="MONDO:equivalentTo"}
xref: GARD:15881 {source="MONDO:GARD"}
xref: MEDGEN:766969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614920 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:614920"}
xref: Orphanet:772 {source="OMIM:614920"}
xref: UMLS:C3554055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766969"}
is_a: MONDO:0100279 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX11B defect
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0019234 {source="MONDO:Redundant", source="OMIM:614920", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8853 {source="MONDO:mim2gene_medgen"} ! PEX11B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0013968
name: PGM1-congenital disorder of glycosylation
subset: gard_rare {source="GARD:4329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319646"}
subset: orphanet_rare {source="Orphanet:319646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDG it" RELATED [OMIM:614921]
synonym: "CDG syndrome type It" EXACT [Orphanet:319646]
synonym: "CDG-It" EXACT [Orphanet:319646]
synonym: "CDG1T" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614921, Orphanet:319646]
synonym: "congenital disorder of glycosylation type 1t" EXACT [Orphanet:319646]
synonym: "congenital disorder of glycosylation type It" EXACT [Orphanet:319646]
synonym: "congenital disorder of glycosylation, type It" RELATED [MONDO:Lexical, OMIM:614921]
synonym: "glycogen storage disease 14" RELATED [OMIM:614921]
synonym: "glycogen storage disease due to phosphoglucomutase deficiency" RELATED [GARD:0004329]
synonym: "GSD 14" RELATED [OMIM:614921]
synonym: "GSD type 14" RELATED [GARD:0004329]
synonym: "GSDXIV" RELATED ABBREVIATION [GARD:0004329]
synonym: "Pgm1 deficiency" RELATED [OMIM:614921]
synonym: "PGM1-CDG" EXACT ABBREVIATION [Orphanet:319646]
synonym: "PGM1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "phosphoglucomutase 1 deficiency" RELATED [OMIM:614921]
synonym: "phosphoglucomutase deficiency type 1" RELATED [GARD:0004329]
synonym: "phosphoglucomutase-1 deficiency" EXACT [Orphanet:319646]
synonym: "type 14 glycogenosis" RELATED [GARD:0004329]
xref: DOID:0080570 {source="MONDO:equivalentTo"}
xref: GARD:4329 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:319646/attributed", source="Orphanet:319646/ntbt", source="Orphanet:319646"}
xref: MEDGEN:414536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567859 {source="MONDO:equivalentTo"}
xref: NANDO:1200836 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:614921 {source="Orphanet:319646/e", source="MONDO:equivalentTo", source="Orphanet:319646"}
xref: Orphanet:319646 {source="MONDO:equivalentTo", source="OMIM:614921"}
xref: UMLS:C2752015 {source="MONDO:equivalentTo", source="MEDGEN:414536", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:614921"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MONDO:0013968/inferred", source="MONDO:Redundant", source="OMIM:614921", source="Orphanet:319646/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0017740 {source="Orphanet:319646"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0013969
name: combined oxidative phosphorylation defect type 11
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324535"}
subset: orphanet_rare {source="Orphanet:324535"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation defect type 11" EXACT CLINGEN_LABEL []
synonym: "combined oxidative phosphorylation deficiency 11" RELATED [MONDO:Lexical, OMIM:614922]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in RMND1" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 11" EXACT [MONDORULE:2, OMIM:614922]
synonym: "COXPD11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614922, Orphanet:324535]
synonym: "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect" RELATED [OMIM:614922]
synonym: "RMND1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111481 {source="MONDO:equivalentTo"}
xref: GARD:17487 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:324535/attributed", source="Orphanet:324535/ntbt", source="Orphanet:324535"}
xref: MEDGEN:1682397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614922 {source="Orphanet:324535", source="MONDO:equivalentTo", source="Orphanet:324535/e"}
xref: Orphanet:324535 {source="MONDO:equivalentTo", source="OMIM:614922"}
xref: UMLS:C5190991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682397"}
is_a: MONDO:0000732 {source="DC-OMIM:614922", source="MONDO:Redundant", source="OMIM:614922"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21176 ! RMND1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21176 {source="MONDO:mim2gene_medgen"} ! RMND1

[Term]
id: MONDO:0013970
name: branched-chain keto acid dehydrogenase kinase deficiency
def: "A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids." [https://orcid.org/0000-0001-5208-3432, Orphanet:308410]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:308410"}
subset: orphanet_rare {source="Orphanet:308410"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [DOID:0090126]
synonym: "BCKDK deficiency" EXACT [DOID:0090126]
synonym: "Bckdk deficiency" RELATED [OMIM:614923]
synonym: "BCKDKD" EXACT ABBREVIATION [DOID:0090126, MONDO:Lexical, OMIM:614923]
synonym: "branched-chain KETO acid dehydrogenase KINASE deficiency" RELATED [OMIM:614923]
synonym: "branched-chain keto acid dehydrogenase kinase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614923]
xref: DOID:0090126 {source="MONDO:equivalentTo"}
xref: GARD:17389 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="DOID:0090126", source="Orphanet:308410/attributed", source="Orphanet:308410/ntbt", source="Orphanet:308410"}
xref: MEDGEN:766992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614923 {source="Orphanet:308410/e", source="MONDO:equivalentTo", source="DOID:0090126", source="Orphanet:308410"}
xref: Orphanet:308410 {source="MONDO:equivalentTo", source="DOID:0090126", source="OMIM:614923"}
xref: UMLS:C3554078 {source="MEDGEN:766992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:0090126", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019242 {source="Orphanet:308410", source="PMID:33340416"} ! inborn disorder of branched-chain amino acid metabolism
relationship: has_characteristic HP:0000007 {source="Orphanet:308410"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16902 {source="MONDO:mim2gene_medgen"} ! BCKDK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0013971
name: leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
def: "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward." [Orphanet:314051]
subset: gard_rare {source="GARD:12893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314051"}
subset: orphanet_rare {source="Orphanet:314051"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation defect type 12" EXACT [Orphanet:314051]
synonym: "combined oxidative phosphorylation deficiency 12" RELATED [MONDO:Lexical, OMIM:614924]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in EARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 12" EXACT [MONDORULE:2, OMIM:614924]
synonym: "COXPD12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614924, Orphanet:314051]
synonym: "EARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" RELATED [OMIM:614924]
synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT CLINGEN_LABEL []
synonym: "LTBL" EXACT ABBREVIATION [Orphanet:314051]
xref: DOID:0111493 {source="MONDO:equivalentTo"}
xref: GARD:12893 {source="MONDO:GARD"}
xref: MEDGEN:1645614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614924 {source="MONDO:equivalentTo", source="Orphanet:314051", source="Orphanet:314051/e"}
xref: Orphanet:314051 {source="MONDO:equivalentTo", source="OMIM:614924"}
xref: SCTID:763366000 {source="MONDO:equivalentTo"}
xref: UMLS:C4706421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645614"}
is_a: MONDO:0000732 {source="DC-OMIM:614924", source="MONDO:Redundant", source="OMIM:614924"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019046 {source="Orphanet:314051"} ! leukodystrophy
intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29419 {source="MONDO:mim2gene_medgen"} ! EARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29419 {source="MONDO:mim2gene_medgen"} ! EARS2

[Term]
id: MONDO:0013972
name: Perrault syndrome 2
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:642976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Perrault syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614926]
synonym: "Perrault syndrome caused by mutation in HARS2" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 2" EXACT [MONDORULE:1, OMIM:614926, Orphanet:642976]
synonym: "PRLTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614926]
xref: GARD:15882 {source="MONDO:GARD"}
xref: MEDGEN:767019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614926 {source="MONDO:equivalentTo"}
xref: Orphanet:2855 {source="OMIM:614926"}
xref: Orphanet:642976 {source="MONDO:equivalentTo"}
xref: UMLS:C3554105 {source="MEDGEN:767019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017312 {source="DC-OMIM:614926", source="MONDO:Redundant", source="OMIM:614926"} ! Perrault syndrome
intersection_of: MONDO:0017312 ! Perrault syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4817 ! HARS2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614926"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4817 {source="MONDO:mim2gene_medgen"} ! HARS2

[Term]
id: MONDO:0013973
name: ectodermal dysplasia 5, hair/nail type
subset: gard_rare {source="GARD:18063", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614927]
synonym: "ectodermal dysplasia 5, hair/nail type" EXACT [MONDO:Lexical, OMIM:614927]
xref: DOID:0111657 {source="MONDO:equivalentTo"}
xref: GARD:18063 {source="MONDO:GARD"}
xref: MEDGEN:767022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614927 {source="MONDO:equivalentTo"}
xref: UMLS:C3554108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767022"}
is_a: MONDO:0019287 {source="DC-OMIM:614927", source="OMIM:614927"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0013974
name: ectodermal dysplasia 6, hair/nail type
subset: gard_rare {source="GARD:18064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614928]
synonym: "ectodermal dysplasia 6, hair/nail type" EXACT [MONDO:Lexical, OMIM:614928]
xref: DOID:0111659 {source="MONDO:equivalentTo"}
xref: GARD:18064 {source="MONDO:GARD"}
xref: MEDGEN:767025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614928 {source="MONDO:equivalentTo"}
xref: Orphanet:69084 {source="OMIM:614928"}
xref: UMLS:C3554111 {source="MEDGEN:767025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019071 {source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia
is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614928"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0013975
name: ectodermal dysplasia 7, hair/nail type
def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18065", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614929]
synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [MONDO:Lexical, OMIM:614929]
synonym: "KRT74 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT74" EXACT [MONDO:design_pattern]
xref: DOID:0111660 {source="MONDO:equivalentTo"}
xref: GARD:18065 {source="MONDO:GARD"}
xref: MEDGEN:767031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614929 {source="MONDO:equivalentTo"}
xref: Orphanet:69084 {source="OMIM:614929"}
xref: UMLS:C3554117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767031"}
is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia
is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614929"} ! ectodermal dysplasia syndrome
intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 ! KRT74
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 {source="MONDO:mim2gene_medgen"} ! KRT74

[Term]
id: MONDO:0013976
name: ectodermal dysplasia 9, hair/nail type
def: "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614931]
synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [MONDO:Lexical, OMIM:614931]
synonym: "HOXC13 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pure hair and nail ectodermal dysplasia caused by mutation in HOXC13" EXACT [MONDO:design_pattern]
xref: DOID:0111656 {source="MONDO:equivalentTo"}
xref: GARD:18066 {source="MONDO:GARD"}
xref: MEDGEN:767041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614931 {source="MONDO:equivalentTo"}
xref: Orphanet:69084 {source="OMIM:614931"}
xref: UMLS:C3554127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767041"}
is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia
is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614931"} ! ectodermal dysplasia syndrome
intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5125 ! HOXC13
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5125 {source="MONDO:mim2gene_medgen"} ! HOXC13

[Term]
id: MONDO:0013977
name: combined oxidative phosphorylation defect type 13
def: "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive." [Orphanet:319514]
subset: gard_rare {source="GARD:17454", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319514"}
subset: orphanet_rare {source="Orphanet:319514"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 13" RELATED [MONDO:Lexical, OMIM:614932]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 13" EXACT [MONDORULE:2, OMIM:614932]
synonym: "COXPD13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614932, Orphanet:319514]
synonym: "PNPT1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111467 {source="MONDO:equivalentTo"}
xref: GARD:17454 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:319514/attributed", source="Orphanet:319514/ntbt", source="Orphanet:319514"}
xref: MEDGEN:1631854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614932 {source="Orphanet:319514/e", source="MONDO:equivalentTo", source="Orphanet:319514"}
xref: Orphanet:319514 {source="MONDO:equivalentTo", source="OMIM:614932"}
xref: SCTID:763110007 {source="MONDO:equivalentTo"}
xref: UMLS:C4706283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631854"}
is_a: MONDO:0000732 {source="DC-OMIM:614932", source="MONDO:Redundant", source="OMIM:614932"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 ! PNPT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 {source="MONDO:mim2gene_medgen"} ! PNPT1

[Term]
id: MONDO:0013978
name: autosomal recessive nonsyndromic hearing loss 70
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22646", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 70" NARROW [DOID:0110521]
synonym: "autosomal recessive nonsyndromic deafness 70" NARROW [OMIM:614934]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PNPT1" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 70" NARROW [DOID:0110521, MONDORULE:2]
synonym: "deafness, autosomal recessive 70" NARROW [MONDO:Lexical, OMIM:614934, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 70" NARROW [MONDORULE:2, OMIM:614934]
synonym: "DFNB70" NARROW ABBREVIATION [DOID:0110521, MONDO:Lexical, OMIM:614934]
synonym: "PNPT1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110521 {source="MONDO:equivalentTo"}
xref: GARD:22646 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110521"}
xref: MEDGEN:760477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614934 {source="MONDO:equivalentTo", source="DOID:0110521"}
xref: UMLS:C1824925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760477"}
is_a: MONDO:0019588 {source="DC-OMIM:614934", source="DOID:0110521", source="MONDO:Redundant", source="OMIM:614934"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 ! PNPT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 {source="MONDO:mim2gene_medgen"} ! PNPT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013979
name: primary ciliary dyskinesia 19
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15883", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD19" EXACT ABBREVIATION [DOID:0110608, MONDO:Lexical, OMIM:614935]
synonym: "ciliary dyskinesia, primary, 19" RELATED [MONDO:Lexical, OMIM:614935]
synonym: "ciliary dyskinesia, primary, 19, with or without situs inversus" RELATED [OMIM:614935]
synonym: "ciliary dyskinesia, primary, type 19" EXACT [MONDORULE:2, OMIM:614935]
synonym: "LRRC6 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 19" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT [DOID:0110608]
synonym: "primary ciliary dyskinesia caused by mutation in LRRC6" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 19" EXACT [DOID:0110608, MONDORULE:2]
xref: DOID:0110608 {source="MONDO:equivalentTo"}
xref: GARD:15883 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110608"}
xref: MEDGEN:762332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614935 {source="MONDO:equivalentTo", source="DOID:0110608"}
xref: UMLS:C3543826 {source="MEDGEN:762332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:614935", source="DOID:0110608", source="MONDO:Redundant", source="OMIM:614935"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16725 ! DNAAF11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16725 {source="MONDO:mim2gene_medgen"} ! DNAAF11

[Term]
id: MONDO:0013980
name: palmoplantar keratoderma, punctate type ib
subset: gard_rare {source="GARD:15884", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoderma, palmoplantar, punctate type IB" EXACT [OMIM:614936, OMIM:genemap2]
synonym: "palmoplantar keratoderma, punctate type IB" RELATED [MONDO:Lexical, OMIM:614936]
synonym: "PPKP1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614936]
xref: GARD:15884 {source="MONDO:GARD"}
xref: MEDGEN:767059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614936 {source="MONDO:equivalentTo"}
xref: Orphanet:79501 {source="OMIM:614936"}
xref: UMLS:C3554145 {source="MEDGEN:767059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019332 {source="Orphanet:79501/btnt"} ! punctate palmoplantar keratoderma type 1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013981
name: myoclonus, familial
def: "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." [Orphanet:319189]
subset: gard_rare {source="GARD:17444", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319189"}
subset: orphanet_rare {source="Orphanet:319189"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial cortical myoclonus" EXACT [OMIM:614937]
synonym: "familial myoclonus" EXACT [OMIMPS:614937]
synonym: "FCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614937]
synonym: "myoclonus, familial cortical" EXACT [MONDO:Lexical, OMIM:614937]
xref: GARD:17444 {source="MONDO:GARD"}
xref: ICD10CM:G25.3 {source="Orphanet:319189", source="Orphanet:319189/attributed", source="Orphanet:319189/ntbt"}
xref: OMIMPS:614937 {source="MONDO:equivalentTo", source="Orphanet:319189", source="Orphanet:319189/e"}
xref: Orphanet:319189 {source="MONDO:equivalentTo", source="OMIM:614937"}
xref: SCTID:763770005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="https://orcid.org/0000-0002-4142-7153"} ! movement disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614937"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0013982
name: ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
subset: gard_rare {source="GARD:18592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD11A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614940]
synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614940]
synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:614940]
xref: DOID:0111653 {source="MONDO:equivalentTo"}
xref: GARD:18592 {source="MONDO:GARD"}
xref: MEDGEN:762105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614940 {source="MONDO:equivalentTo"}
xref: Orphanet:1810 {source="OMIM:614940"}
xref: Orphanet:238468 {source="OMIM:614940"}
xref: UMLS:C3541517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762105"}
is_a: MONDO:0015884 {source="Orphanet:1810/btnt"} ! autosomal dominant hypohidrotic ectodermal dysplasia
is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614940"} ! ectodermal dysplasia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14341 {source="MONDO:mim2gene_medgen"} ! EDARADD

[Term]
id: MONDO:0013983
name: ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
subset: gard_rare {source="GARD:15885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD11B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614941]
synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614941]
synonym: "ectodermal dysplasia, anhidrotic" RELATED [OMIM:614941]
synonym: "ectodermal dysplasia, hypohidrotic" RELATED [OMIM:614941]
xref: DOID:0111654 {source="MONDO:equivalentTo"}
xref: GARD:15885 {source="MONDO:GARD"}
xref: MEDGEN:761671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614941 {source="MONDO:equivalentTo"}
xref: Orphanet:238468 {source="OMIM:614941"}
xref: Orphanet:248 {source="OMIM:614941"}
xref: UMLS:C3539920 {source="MEDGEN:761671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016619 {source="Orphanet:248/btnt"} ! autosomal recessive hypohidrotic ectodermal dysplasia
is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614941"} ! ectodermal dysplasia syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14341 {source="MONDO:mim2gene_medgen"} ! EDARADD

[Term]
id: MONDO:0013984
name: autosomal recessive nonsyndromic hearing loss 84B
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 84B" NARROW [DOID:0110530]
synonym: "autosomal recessive nonsyndromic deafness 84B" NARROW [OMIM:614944]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOGL" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 84B" NARROW [DOID:0110530, MONDORULE:4]
synonym: "autosomal recessive nonsyndromic hearing loss 84B" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 84B" NARROW [MONDO:Lexical, OMIM:614944]
synonym: "deafness, autosomal recessive 84b" NARROW [OMIM:614944, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 84B" NARROW [MONDORULE:4, OMIM:614944]
synonym: "DFNB84B" NARROW ABBREVIATION [DOID:0110530, MONDO:Lexical, OMIM:614944]
synonym: "OTOGL autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110530 {source="MONDO:equivalentTo"}
xref: GARD:22647 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110530"}
xref: MEDGEN:767073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614944 {source="MONDO:equivalentTo", source="DOID:0110530"}
xref: UMLS:C3554159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767073"}
is_a: MONDO:0019588 {source="DC-OMIM:614944", source="DOID:0110530", source="MONDO:Redundant", source="OMIM:614944"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26901 ! OTOGL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26901 {source="MONDO:mim2gene_medgen"} ! OTOGL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013985
name: autosomal recessive nonsyndromic hearing loss 18B
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 18B" NARROW [DOID:0110474]
synonym: "autosomal recessive nonsyndromic deafness 18B" NARROW [OMIM:614945]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOG" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 18B" NARROW [DOID:0110474, MONDORULE:4]
synonym: "autosomal recessive nonsyndromic hearing loss 18B" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 18B" NARROW [MONDO:Lexical, OMIM:614945]
synonym: "deafness, autosomal recessive 18b" NARROW [OMIM:614945, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 18B" NARROW [MONDORULE:4, OMIM:614945]
synonym: "DFNB18B" NARROW ABBREVIATION [DOID:0110474, MONDO:Lexical, OMIM:614945]
synonym: "OTOG autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110474 {source="MONDO:equivalentTo"}
xref: GARD:22648 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110474"}
xref: MEDGEN:767077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614945 {source="MONDO:equivalentTo", source="DOID:0110474"}
xref: UMLS:C3554163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767077"}
is_a: MONDO:0019588 {source="DC-OMIM:614945", source="DOID:0110474", source="MONDO:Redundant", source="OMIM:614945"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8516 ! OTOG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8516 {source="MONDO:mim2gene_medgen"} ! OTOG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0013986
name: combined oxidative phosphorylation defect type 14
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17455", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319519"}
subset: orphanet_rare {source="Orphanet:319519"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 14" RELATED [MONDO:Lexical, OMIM:614946]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in FARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 14" EXACT [MONDORULE:2, OMIM:614946]
synonym: "COXPD14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614946, Orphanet:319519]
synonym: "FARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111477 {source="MONDO:equivalentTo"}
xref: GARD:17455 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:319519/attributed", source="Orphanet:319519/ntbt", source="Orphanet:319519"}
xref: MEDGEN:1663069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614946 {source="Orphanet:319519", source="MONDO:equivalentTo", source="Orphanet:319519/e"}
xref: Orphanet:319519 {source="MONDO:equivalentTo", source="OMIM:614946"}
xref: UMLS:C4755312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1663069"}
is_a: MONDO:0000732 {source="DC-OMIM:614946", source="MONDO:Redundant", source="OMIM:614946"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 ! FARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 {source="MONDO:mim2gene_medgen"} ! FARS2

[Term]
id: MONDO:0013987
name: combined oxidative phosphorylation defect type 15
def: "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported." [Orphanet:319524]
subset: gard_rare {source="GARD:17456", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319524"}
subset: orphanet_rare {source="Orphanet:319524"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation defect type 15" EXACT CLINGEN_LABEL []
synonym: "combined oxidative phosphorylation deficiency 15" RELATED [MONDO:Lexical, OMIM:614947]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTFMT" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 15" EXACT [MONDORULE:2, OMIM:614947]
synonym: "COXPD15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614947, Orphanet:319524]
synonym: "MTFMT combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111491 {source="MONDO:equivalentTo"}
xref: GARD:17456 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:319524/attributed", source="Orphanet:319524/ntbt", source="Orphanet:319524"}
xref: MEDGEN:1646555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614947 {source="Orphanet:319524/e", source="MONDO:equivalentTo", source="Orphanet:319524"}
xref: Orphanet:319524 {source="MONDO:equivalentTo", source="OMIM:614947"}
xref: SCTID:763203009 {source="MONDO:equivalentTo"}
xref: UMLS:C4706313 {source="MEDGEN:1646555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:614947", source="MONDO:Redundant", source="OMIM:614947"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29666 ! MTFMT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29666 {source="MONDO:mim2gene_medgen"} ! MTFMT

[Term]
id: MONDO:0013988
name: congenital heart defects, multiple types, 3
synonym: "CHTD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614954]
synonym: "congenital heart defects, multiple types, 3" EXACT [MONDO:Lexical, OMIM:614954]
synonym: "congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances" RELATED [OMIM:614954]
xref: MEDGEN:767108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614954 {source="MONDO:equivalentTo"}
xref: UMLS:C3554194 {source="MONDO:equivalentTo", source="MEDGEN:767108", source="MONDO:MEDGEN"}
is_a: MONDO:0000119 {source="DC-OMIM:614954"} ! congenital heart defects, multiple types
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0013989
name: developmental and epileptic encephalopathy, 14
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE14" EXACT ABBREVIATION [OMIM:614959]
synonym: "developmental and epileptic encephalopathy 14" EXACT [OMIM:614959, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in KCNT1" EXACT [MONDO:design_pattern]
synonym: "EIEE14" EXACT ABBREVIATION [OMIM:614959]
synonym: "epileptic encephalopathy, early infantile, 14" EXACT [MONDO:Lexical, OMIM:614959]
synonym: "epileptic encephalopathy, early infantile, type 14" EXACT [MONDORULE:2, OMIM:614959]
synonym: "KCNT1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080439 {source="MONDO:equivalentTo"}
xref: GARD:15886 {source="MONDO:GARD"}
xref: MEDGEN:767109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614959 {source="MONDO:equivalentTo"}
xref: Orphanet:293181 {source="OMIM:614959"}
xref: UMLS:C3554195 {source="MEDGEN:767109", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DC-OMIM:614959", source="MONDO:Redundant", source="OMIM:614959"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 ! KCNT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 {source="MONDO:mim2gene_medgen"} ! KCNT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013990
name: pontocerebellar hypoplasia type 8
def: "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." [Orphanet:324569]
subset: gard_rare {source="GARD:17488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324569"}
subset: ordo_malformation_syndrome {source="Orphanet:324569"}
subset: orphanet_rare {source="Orphanet:324569"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHMP1A non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A" EXACT [MONDO:design_pattern]
synonym: "PCH8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614961, Orphanet:324569]
synonym: "pontocerebellar hypoplasia due to CHMP1A mutation" EXACT [Orphanet:324569]
synonym: "pontocerebellar hypoplasia type 8" EXACT CLINGEN_LABEL []
synonym: "pontocerebellar hypoplasia, type 8" RELATED [MONDO:Lexical, OMIM:614961]
xref: DOID:0060277 {source="MONDO:equivalentTo"}
xref: GARD:17488 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:324569/attributed", source="Orphanet:324569/ntbt", source="DOID:0060277", source="Orphanet:324569"}
xref: MEDGEN:767123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614961 {source="DOID:0060277", source="Orphanet:324569", source="MONDO:equivalentTo", source="Orphanet:324569/e"}
xref: Orphanet:324569 {source="DOID:0060277", source="OMIM:614961", source="MONDO:equivalentTo"}
xref: SCTID:718611007 {source="MONDO:equivalentTo"}
xref: UMLS:C3554209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767123"}
is_a: MONDO:0020135 {source="DC-OMIM:614961", source="DOID:0060277", source="MONDO:Redundant", source="OMIM:614961", source="Orphanet:324569"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8740 ! CHMP1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8740 {source="MONDO:mim2gene_medgen"} ! CHMP1A

[Term]
id: MONDO:0013991
name: obesity due to congenital leptin deficiency
def: "Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia." [Orphanet:66628]
subset: gard_rare {source="GARD:13015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:110641"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:66628"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Congenital Leptin Deficiency" EXACT [NORD:110641]
synonym: "LEPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614962]
synonym: "leptin deficiency or dysfunction" RELATED [GARD:0013015, MONDO:Lexical, OMIM:614962]
synonym: "obesity, morbid, due to leptin deficiency" EXACT [OMIM:614962, OMIM:genemap2]
synonym: "obesity, morbid, nonsyndromic 1" RELATED [OMIM:614962]
xref: DOID:0111334 {source="MONDO:equivalentTo"}
xref: GARD:13015 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:66628", source="Orphanet:66628/attributed", source="Orphanet:66628/ntbt"}
xref: MEDGEN:767138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:110641 {source="MONDO:NORD"}
xref: OMIM:614962 {source="MONDO:equivalentTo", source="Orphanet:66628", source="Orphanet:66628/e"}
xref: Orphanet:66628 {source="OMIM:614962", source="MONDO:equivalentTo"}
xref: UMLS:C3554224 {source="MEDGEN:767138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder
is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6553 {source="MONDO:mim2gene_medgen"} ! LEP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency" xsd:anyURI {source="GARD:0013015"}

[Term]
id: MONDO:0013992
name: obesity due to leptin receptor gene deficiency
subset: gard_rare {source="GARD:17083", source="MONDO:GARD"}
subset: nord_rare {source="NORD:109401", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:179494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LEPR Deficiency" EXACT [NORD:109401]
synonym: "leptin receptor deficiency" RELATED [OMIM:614963]
synonym: "obesity due to leptin receptor gene deficiency" EXACT CLINGEN_LABEL []
synonym: "obesity, morbid, due to leptin receptor deficiency" EXACT [OMIM:614963, OMIM:genemap2]
synonym: "obesity, morbid, nonsyndromic 2" RELATED [OMIM:614963]
xref: GARD:17083 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:179494/attributed", source="Orphanet:179494/ntbt", source="Orphanet:179494"}
xref: MEDGEN:767139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120386 {source="MONDO:equivalentTo"}
xref: NORD:109401 {source="MONDO:NORD"}
xref: OMIM:614963 {source="Orphanet:179494/e", source="MONDO:equivalentTo", source="Orphanet:179494"}
xref: Orphanet:179494 {source="OMIM:614963", source="MONDO:equivalentTo"}
xref: UMLS:C3554225 {source="MEDGEN:767139", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder
is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6554 {source="MONDO:mim2gene_medgen"} ! LEPR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0013993
name: pontocerebellar hypoplasia type 7
def: "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." [Orphanet:284339]
subset: gard_rare {source="GARD:17315", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284339"}
subset: ordo_malformation_syndrome {source="Orphanet:284339"}
subset: orphanet_rare {source="Orphanet:284339"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1" EXACT [MONDO:design_pattern]
synonym: "PCH7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614969, Orphanet:284339]
synonym: "pontocerebellar hypoplasia, type 7" RELATED [MONDO:Lexical, OMIM:614969]
synonym: "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" EXACT [Orphanet:284339]
synonym: "TOE1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060276 {source="MONDO:equivalentTo"}
xref: GARD:17315 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="DOID:0060276", source="Orphanet:284339/attributed", source="Orphanet:284339/ntbt", source="Orphanet:284339"}
xref: MEDGEN:767140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614969 {source="Orphanet:284339/e", source="DOID:0060276", source="MONDO:equivalentTo", source="Orphanet:284339"}
xref: Orphanet:284339 {source="DOID:0060276", source="MONDO:equivalentTo", source="OMIM:614969"}
xref: SCTID:718605009 {source="MONDO:equivalentTo"}
xref: UMLS:C3554226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767140"}
is_a: MONDO:0020135 {source="DC-OMIM:614969", source="DOID:0060276", source="MONDO:Redundant", source="OMIM:614969", source="Orphanet:284339"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15954 ! TOE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15954 {source="MONDO:mim2gene_medgen"} ! TOE1

[Term]
id: MONDO:0013994
name: Joubert syndrome 20
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS20" EXACT ABBREVIATION [DOID:0110989, MONDO:Lexical, OMIM:614970]
synonym: "Joubert syndrome 20" EXACT [MONDO:Lexical, OMIM:614970]
synonym: "Joubert syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 20" EXACT [DOID:0110989, MONDORULE:2, OMIM:614970]
synonym: "TMEM231 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110989 {source="MONDO:equivalentTo"}
xref: GARD:15887 {source="MONDO:GARD"}
xref: MEDGEN:767149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614970 {source="DOID:0110989", source="MONDO:equivalentTo"}
xref: Orphanet:220493 {source="OMIM:614970"}
xref: Orphanet:475 {source="OMIM:614970"}
xref: UMLS:C3554235 {source="MEDGEN:767149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DC-OMIM:614970", source="DOID:0110989", source="MONDO:Redundant", source="OMIM:614970"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37234 ! TMEM231
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37234 {source="MONDO:mim2gene_medgen"} ! TMEM231

[Term]
id: MONDO:0013995
name: cholestasis, intrahepatic, of pregnancy, 3
subset: gard_rare {source="GARD:15888", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cholestasis, intrahepatic, of pregnancy 3" EXACT [MONDO:Lexical, OMIM:614972]
synonym: "cholestasis, intrahepatic, of pregnancy type 3" EXACT [MONDORULE:1, OMIM:614972]
synonym: "ICP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614972]
xref: DOID:0070229 {source="MONDO:equivalentTo"}
xref: GARD:15888 {source="MONDO:GARD"}
xref: MEDGEN:767155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614972 {source="MONDO:equivalentTo"}
xref: Orphanet:69665 {source="OMIM:614972"}
xref: UMLS:C3554241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767155"}
is_a: MONDO:0100429 {source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy
relationship: excluded_subClassOf MONDO:0019072 {source="Orphanet:69665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! intrahepatic cholestasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3897" xsd:anyURI

[Term]
id: MONDO:0013996
name: focal facial dermal dysplasia type II
def: "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." [Orphanet:398173]
subset: gard_rare {source="GARD:17649", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1704", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:398173"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brauer-Setleis syndrome" RELATED [OMIM:614973]
synonym: "FFDD type II" EXACT [Orphanet:398173]
synonym: "FFDD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614973, Orphanet:398173]
synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type" EXACT [MONDO:Lexical, OMIM:614973, Orphanet:398173]
synonym: "Setleis Syndrome" EXACT [NORD:1704]
xref: GARD:17649 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:398173/attributed", source="Orphanet:398173/ntbt", source="Orphanet:398173"}
xref: MEDGEN:767159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1704 {source="MONDO:NORD"}
xref: OMIM:614973 {source="Orphanet:398173/e", source="MONDO:equivalentTo", source="Orphanet:398173"}
xref: Orphanet:398166 {source="OMIM:614973"}
xref: Orphanet:398173 {source="OMIM:614973", source="MONDO:equivalentTo"}
xref: UMLS:C3554245 {source="MEDGEN:767159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009203 ! focal facial dermal dysplasia type III
is_a: MONDO:0018363 {source="MONDO:Redundant", source="OMIM:614973", source="Orphanet:398173"} ! focal facial dermal dysplasia

[Term]
id: MONDO:0013997
name: focal facial dermal dysplasia type IV
def: "Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions." [Orphanet:398189]
subset: gard_rare {source="GARD:17650", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:398189"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FFDD type IV" EXACT [Orphanet:398189]
synonym: "FFDD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614974, Orphanet:398189]
synonym: "focal facial dermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614974, Orphanet:398189]
synonym: "focal Facial dermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614974]
synonym: "focal facial preauricular dysplasia" EXACT [Orphanet:398189]
xref: GARD:17650 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:398189/attributed", source="Orphanet:398189/ntbt", source="Orphanet:398189"}
xref: MEDGEN:767160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614974 {source="Orphanet:398189", source="MONDO:equivalentTo", source="Orphanet:398189/e"}
xref: Orphanet:398166 {source="OMIM:614974"}
xref: Orphanet:398189 {source="OMIM:614974", source="MONDO:equivalentTo"}
xref: UMLS:C3554246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767160"}
is_a: MONDO:0018363 {source="DC-OMIM:614974", source="OMIM:614974", source="Orphanet:398189"} ! focal facial dermal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20577 {source="MONDO:mim2gene_medgen"} ! CYP26C1

[Term]
id: MONDO:0013998
name: MEGF8-related Carpenter syndrome
def: "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CARPENTER syndrome 2" RELATED [OMIM:614976]
synonym: "Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:614976]
synonym: "Carpenter syndrome caused by mutation in MEGF8" EXACT [MONDO:design_pattern]
synonym: "Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:614976]
synonym: "CRPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614976]
synonym: "MEGF8 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15889 {source="MONDO:GARD"}
xref: MEDGEN:767161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614976 {source="MONDO:equivalentTo"}
xref: Orphanet:65759 {source="OMIM:614976"}
xref: UMLS:C3554247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767161"}
is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0019012 {source="DC-OMIM:614976", source="MONDO:Redundant", source="OMIM:614976"} ! Carpenter syndrome
intersection_of: MONDO:0019012 ! Carpenter syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3233 ! MEGF8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3233 {source="MONDO:mim2gene_medgen"} ! MEGF8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0013999
name: retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
def: "A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches." [https://orcid.org/0000-0002-0146-1162]
subset: gard_rare {source="GARD:17411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313800"}
subset: orphanet_rare {source="Orphanet:313800"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "optic nerve edema-splenomegaly syndrome" EXACT [Orphanet:313800]
synonym: "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-0146-1162]
synonym: "ROSAH" EXACT ABBREVIATION [https://orcid.org/0000-0002-0146-1162]
synonym: "ROSAH syndrome" EXACT [OMIM:614979, OMIM:genemap2]
synonym: "splenomegaly, cytopenia, and vision loss" RELATED [OMIM:614979]
xref: GARD:17411 {source="MONDO:GARD"}
xref: MEDGEN:1662266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614979 {source="Orphanet:313800", source="MONDO:equivalentTo", source="Orphanet:313800/e"}
xref: Orphanet:313800 {source="MONDO:equivalentTo", source="OMIM:614979"}
xref: UMLS:C4749914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1662266"}
is_a: MONDO:0020249 {source="Orphanet:313800"} ! hereditary optic neuropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6870" xsd:anyURI

[Term]
id: MONDO:0014000
name: congenital heart defects, multiple types, 2
def: "Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHTD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614980]
synonym: "congenital heart defects, multiple types, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614980]
synonym: "congenital heart defects, nonsyndromic, 2" EXACT [OMIM:614980, OMIM:genemap2]
synonym: "congenital heart malformation caused by mutation in TAB2" EXACT [MONDO:design_pattern]
synonym: "TAB2 congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:767193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614980 {source="MONDO:equivalentTo"}
xref: UMLS:C3554279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767193"}
is_a: MONDO:0000119 {source="DC-OMIM:614980"} ! congenital heart defects, multiple types
is_a: MONDO:0019512 {source="MONDO:Redundant"} ! congenital heart malformation
intersection_of: MONDO:0019512 ! congenital heart malformation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17075 ! TAB2
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17075 {source="MONDO:mim2gene_medgen"} ! TAB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014001
name: Usher syndrome type 1K
def: "An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1." [DOID:0110837, PMID:22718019]
subset: gard_rare {source="GARD:15890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH1K" EXACT ABBREVIATION [DOID:0110837, MONDO:Lexical, OMIM:614990]
synonym: "Usher syndrome type IK" EXACT [DOID:0110837]
synonym: "USHER syndrome, type IK" RELATED [MONDO:Lexical, OMIM:614990]
xref: DOID:0110837 {source="MONDO:equivalentTo"}
xref: GARD:15890 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110837"}
xref: MEDGEN:761332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614990 {source="DOID:0110837", source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="OMIM:614990"}
xref: Orphanet:886 {source="OMIM:614990"}
xref: UMLS:C3539124 {source="MEDGEN:761332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
is_a: MONDO:0019501 {source="DOID:0110837/inferred", source="MONDO:Redundant", source="OMIM:614990"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614990"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0014002
name: autosomal dominant nocturnal frontal lobe epilepsy 5
def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 5" EXACT [DOID:0060686, MONDORULE:1]
synonym: "ENFL5" EXACT ABBREVIATION [DOID:0060686, MONDO:Lexical, OMIM:615005]
synonym: "epilepsy nocturnal frontal lobe, 5" EXACT [OMIM:615005, OMIM:genemap2]
synonym: "epilepsy, nocturnal frontal lobe, 5" RELATED [MONDO:Lexical, OMIM:615005]
synonym: "epilepsy, nocturnal frontal lobe, type 5" EXACT [MONDORULE:1, OMIM:615005]
synonym: "KCNT1 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nocturnal frontal lobe epilepsy 5" EXACT [DOID:0060686]
xref: DOID:0060686 {source="MONDO:equivalentTo"}
xref: GARD:15891 {source="MONDO:GARD"}
xref: MEDGEN:767220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615005 {source="DOID:0060686", source="MONDO:equivalentTo"}
xref: Orphanet:98784 {source="OMIM:615005"}
xref: UMLS:C3554306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767220"}
is_a: MONDO:0000030 {source="DC-OMIM:615005", source="OMIM:615005"} ! sleep-related hypermotor epilepsy
is_a: MONDO:0020300 {source="DOID:0060686", source="MONDO:Redundant"} ! autosomal dominant nocturnal frontal lobe epilepsy
intersection_of: MONDO:0020300 ! autosomal dominant nocturnal frontal lobe epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 ! KCNT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 {source="MONDO:mim2gene_medgen"} ! KCNT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014003
name: developmental and epileptic encephalopathy, 15
subset: gard_rare {source="GARD:15892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE15" EXACT ABBREVIATION [OMIM:615006]
synonym: "developmental and epileptic encephalopathy 15" EXACT [OMIM:615006, OMIM:genemap2]
synonym: "EIEE15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615006]
synonym: "epileptic encephalopathy, early infantile, 15" EXACT [MONDO:Lexical, OMIM:615006]
synonym: "epileptic encephalopathy, early infantile, type 15" EXACT [MONDORULE:2, OMIM:615006]
xref: DOID:0080414 {source="MONDO:equivalentTo"}
xref: GARD:15892 {source="MONDO:GARD"}
xref: MEDGEN:767230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615006 {source="MONDO:equivalentTo"}
xref: Orphanet:3451 {source="OMIM:615006"}
xref: UMLS:C3554316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767230"}
is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome
is_a: MONDO:0100062 {source="DC-OMIM:615006", source="OMIM:615006"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014004
name: basal ganglia calcification, idiopathic, 4
subset: gard_rare {source="GARD:15893", source="MONDO:GARD"}
subset: rare
synonym: "basal ganglia calcification, idiopathic, 4" EXACT [MONDO:Lexical, OMIM:615007]
synonym: "basal ganglia calcification, idiopathic, type 4" EXACT [MONDORULE:1, OMIM:615007]
synonym: "IBGC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615007]
xref: GARD:15893 {source="MONDO:GARD"}
xref: MEDGEN:767235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615007 {source="MONDO:equivalentTo"}
xref: Orphanet:1980 {source="OMIM:615007"}
xref: UMLS:C3554321 {source="MEDGEN:767235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615007", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis
relationship: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB

[Term]
id: MONDO:0014005
name: immunoglobulin-mediated membranoproliferative glomerulonephritis
def: "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation." [NCIT:C123055]
subset: gard_rare {source="GARD:17506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:329903"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "Ahus, susceptibility to, 7" RELATED [OMIM:615008]
synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 7" RELATED [OMIM:615008]
synonym: "Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329903]
synonym: "Ig-mediated MPGN" EXACT [Orphanet:329903]
synonym: "immune Complex mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123055]
synonym: "immunoglobulin-mediated membranoproliferative glomerulonephritis" EXACT CLINGEN_LABEL []
synonym: "Immunoglobulin-mediated MPGN" EXACT [Orphanet:329903]
synonym: "membranoproliferative glomerulonephritis type I" EXACT [NCIT:C123055]
synonym: "Mesangiocapillary glomerulonephritis type 1" EXACT [NCIT:C123055]
synonym: "nephrotic syndrome, type 7" RELATED [MONDO:Lexical, OMIM:615008]
synonym: "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" RELATED [OMIM:615008]
synonym: "NPHS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615008]
xref: GARD:17506 {source="MONDO:GARD"}
xref: ICD10CM:N00.5 {source="Orphanet:329903/attributed", source="Orphanet:329903/ntbt", source="Orphanet:329903"}
xref: MEDGEN:767244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200726 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123055 {source="MONDO:equivalentTo"}
xref: OMIM:615008 {source="Orphanet:329903", source="MONDO:equivalentTo", source="Orphanet:329903/e"}
xref: Orphanet:2134 {source="OMIM:615008"}
xref: Orphanet:329903 {source="OMIM:615008", source="MONDO:equivalentTo"}
xref: Orphanet:357008 {source="OMIM:615008"}
xref: Orphanet:54370 {source="OMIM:615008"}
xref: UMLS:C3554330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767244"}
is_a: MONDO:0002350 {source="OMIM:615008"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="DC-OMIM:615008", source="MONDO:Redundant", source="MONDO:indirect"} ! nephrotic syndrome
is_a: MONDO:0018904 {source="NCIT:C123055", source="Orphanet:329903"} ! primary membranoproliferative glomerulonephritis
relationship: excluded_subClassOf MONDO:0016244 {source="Orphanet:2134/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! atypical hemolytic-uremic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2852 {source="MONDO:mim2gene_medgen"} ! DGKE

[Term]
id: MONDO:0014006
name: Schuurs-Hoeijmakers syndrome
def: "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." [Orphanet:329224]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329224"}
subset: ordo_malformation_syndrome {source="Orphanet:329224"}
subset: orphanet_rare {source="Orphanet:329224"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 17" EXACT [DOID:0070047]
synonym: "autosomal dominant intellectual disability-17" RELATED [GARD:0013043]
synonym: "autosomal dominant mental retardation 17" EXACT DEPRECATED [DOID:0070047]
synonym: "intellectual disability, autosomal dominant 17" RELATED [MONDO:Lexical, OMIM:615009]
synonym: "intellectual disability, autosomal dominant type 17" EXACT [MONDORULE:2, OMIM:615009]
synonym: "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/1443, PMID:23159249, PMID:25522177, PMID:26842493, PMID:28111752, PMID:28975623, PMID:30113927]
synonym: "mental retardation, autosomal dominant 17" RELATED DEPRECATED [MONDO:Lexical, OMIM:615009]
synonym: "mental retardation, autosomal dominant type 17" EXACT DEPRECATED [MONDORULE:2, OMIM:615009]
synonym: "MRD17" EXACT ABBREVIATION [DOID:0070047, MONDO:Lexical, OMIM:615009]
synonym: "PACS1-related syndrome" RELATED [GARD:0013043]
synonym: "Schuurs-Hoeijmakers syndrome" EXACT CLINGEN_LABEL [OMIM:615009]
synonym: "SHMS" EXACT ABBREVIATION [DOID:0070047]
xref: DOID:0070047 {source="MONDO:equivalentTo"}
xref: GARD:13043 {source="MONDO:GARD"}
xref: MEDGEN:767257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C150555 {source="MONDO:equivalentTo"}
xref: OMIM:615009 {source="Orphanet:329224/e", source="DOID:0070047", source="MONDO:equivalentTo", source="Orphanet:329224"}
xref: Orphanet:329224 {source="MONDO:equivalentTo", source="OMIM:615009"}
xref: UMLS:C3554343 {source="MEDGEN:767257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329224", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:329224"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070047", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30032 {source="MONDO:mim2gene_medgen"} ! PACS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014007
name: Aicardi-Goutieres syndrome 6
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADAR Aicardi-Goutieres syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Adar Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern]
synonym: "AGS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615010]
synonym: "Aicardi-Goutieres syndrome 6" EXACT [MONDO:Lexical, OMIM:615010]
synonym: "Aicardi-Goutieres syndrome caused by mutation in ADAR" EXACT []
synonym: "Aicardi-Goutieres syndrome caused by mutation in Adar" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 6" EXACT [MONDORULE:1, OMIM:615010]
xref: GARD:15894 {source="MONDO:GARD"}
xref: MEDGEN:761287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200898 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615010 {source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="OMIM:615010"}
xref: UMLS:C3539013 {source="MEDGEN:761287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018866 {source="DC-OMIM:615010", source="MONDO:Redundant", source="OMIM:615010"} ! Aicardi-Goutieres syndrome
is_a: MONDO:0700261 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! ADAR-related type 1 interferonopathy
intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/225 ! ADAR
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615010"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/225 {source="MONDO:mim2gene_medgen"} ! ADAR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0014008
name: phosphohydroxylysinuria
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "PHLU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615011]
synonym: "PHOSPHOHYDROXYLYSINURIA" RELATED ABBREVIATION [OMIM:615011]
synonym: "Phosphohydroxylysinuria" EXACT [MONDO:Lexical, OMIM:615011]
synonym: "phosphohydroxylysinuria" EXACT CLINGEN_LABEL [OMIM:615011, OMIM:genemap2]
xref: MEDGEN:767258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615011 {source="MONDO:equivalentTo"}
xref: UMLS:C3554344 {source="MEDGEN:767258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28249 {source="MONDO:mim2gene_medgen"} ! PHYKPL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014009
name: autosomal recessive congenital ichthyosis 7
def: "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1." [DOID:0060716, PMID:16117785]
subset: gard_rare {source="GARD:15895", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI7" EXACT ABBREVIATION [DOID:0060716, MONDO:Lexical, OMIM:615022]
synonym: "autosomal recessive congenital ichthyosis type 7" EXACT [DOID:0060716, MONDORULE:1]
synonym: "ichthyosis, congenital, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:615022]
xref: DOID:0060716 {source="MONDO:equivalentTo"}
xref: GARD:15895 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060716"}
xref: MEDGEN:767262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615022 {source="MONDO:equivalentTo", source="DOID:0060716"}
xref: Orphanet:79394 {source="OMIM:615022"}
xref: UMLS:C3554348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767262"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:615022"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615022"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0014010
name: autosomal recessive congenital ichthyosis 9
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15896", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI9" EXACT ABBREVIATION [DOID:0060718, MONDO:Lexical, OMIM:615023]
synonym: "autosomal recessive congenital ichthyosis 9" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive congenital ichthyosis type 9" EXACT [DOID:0060718, MONDORULE:1]
synonym: "ichthyosis, congenital, autosomal recessive 9" RELATED [MONDO:Lexical, OMIM:615023]
synonym: "ichthyosis, congenital, autosomal recessive type 9" EXACT [MONDORULE:1, OMIM:615023]
xref: DOID:0060718 {source="MONDO:equivalentTo"}
xref: GARD:15896 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060718"}
xref: MEDGEN:767263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615023 {source="MONDO:equivalentTo", source="DOID:0060718"}
xref: Orphanet:79394 {source="OMIM:615023"}
xref: UMLS:C3554349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767263"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:615023"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23752 ! CERS3
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615023"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23752 {source="MONDO:mim2gene_medgen"} ! CERS3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014011
name: autosomal recessive congenital ichthyosis 10
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI10" EXACT ABBREVIATION [DOID:0060719, MONDO:Lexical, OMIM:615024]
synonym: "autosomal recessive congenital ichthyosis type 10" EXACT [DOID:0060719, MONDORULE:2]
synonym: "ichthyosis, congenital, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:615024]
synonym: "ichthyosis, congenital, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:615024]
xref: DOID:0060719 {source="MONDO:equivalentTo"}
xref: GARD:15897 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="DOID:0060719"}
xref: MEDGEN:767269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615024 {source="DOID:0060719", source="MONDO:equivalentTo"}
xref: Orphanet:79394 {source="OMIM:615024"}
xref: UMLS:C3554355 {source="MEDGEN:767269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:615024"} ! autosomal recessive congenital ichthyosis
is_a: MONDO:0019306 {source="Orphanet:79394/btnt"} ! congenital non-bullous ichthyosiform erythroderma
intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21246 ! PNPLA1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615024"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21246 {source="MONDO:mim2gene_medgen"} ! PNPLA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014012
name: Charcot-Marie-Tooth disease axonal type 2Q
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." [Orphanet:329258]
subset: gard_rare {source="GARD:12446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329258"}
subset: orphanet_rare {source="Orphanet:329258"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170]
synonym: "Charcot-Marie-Tooth disease caused by mutation in DHTKD1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2Q" RELATED [GARD:0012446]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q" RELATED [OMIM:615025]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Q" RELATED [MONDO:Lexical, OMIM:615025]
synonym: "Charcot-Marie-Tooth neuropathy type 2Q" EXACT [DOID:0110170]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" RELATED [OMIM:615025]
synonym: "CMT2Q" EXACT ABBREVIATION [DOID:0110170, MONDO:Lexical, OMIM:615025, Orphanet:329258]
synonym: "DHTKD1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110170 {source="MONDO:equivalentTo"}
xref: GARD:12446 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110170", source="Orphanet:329258/attributed", source="Orphanet:329258/ntbt", source="Orphanet:329258"}
xref: MEDGEN:767280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615025 {source="Orphanet:329258/e", source="DOID:0110170", source="MONDO:equivalentTo", source="Orphanet:329258"}
xref: Orphanet:329258 {source="OMIM:615025", source="DOID:0110170", source="MONDO:equivalentTo"}
xref: UMLS:C3554366 {source="MEDGEN:767280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110170/inferred", source="MONDO:Redundant", source="OMIM:615025", source="Orphanet:329258/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110170", source="Orphanet:329258"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23537 ! DHTKD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23537 {source="MONDO:mim2gene_medgen"} ! DHTKD1

[Term]
id: MONDO:0014013
name: maternal riboflavin deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17686", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411712"}
subset: orphanet_rare {source="Orphanet:411712"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal riboflavin deficiency" EXACT CLINGEN_LABEL []
synonym: "RBFVD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615026]
synonym: "riboflavin deficiency" BROAD [MONDO:Lexical, OMIM:615026]
xref: GARD:17686 {source="MONDO:GARD"}
xref: ICD10CM:P00.4 {source="Orphanet:411712", source="Orphanet:411712/attributed", source="Orphanet:411712/ntbt"}
xref: MEDGEN:1657395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411712 {source="OMIM:615026", source="MONDO:equivalentTo"}
xref: UMLS:C4750953 {source="MEDGEN:1657395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004573 {source="https://orcid.org/0000-0002-4142-7153"} ! ariboflavinosis
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease
is_a: MONDO:0017757 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of metabolite absorption and transport
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI

[Term]
id: MONDO:0014014
name: epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
subset: gard_rare {source="GARD:17691", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412189"}
subset: orphanet_rare {source="Orphanet:412189"}
subset: rare
synonym: "EBNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615028]
synonym: "EBS-AR exophilin 5" EXACT [Orphanet:412189]
synonym: "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" EXACT [OMIM:615028, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex due to exophilin 5 deficiency" EXACT CLINGEN_LABEL [Orphanet:412189]
synonym: "epidermolysis bullosa, nonspecific, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615028]
xref: GARD:17691 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:412189/attributed", source="Orphanet:412189/ntbt", source="Orphanet:412189"}
xref: MEDGEN:767281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615028 {source="Orphanet:412189/e", source="MONDO:equivalentTo", source="Orphanet:412189"}
xref: Orphanet:412189 {source="OMIM:615028", source="MONDO:equivalentTo"}
xref: UMLS:C3554367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767281"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
intersection_of: MONDO:0017610 ! epidermolysis bullosa simplex
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30578 ! EXPH5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30578 {source="MONDO:mim2gene_medgen"} ! EXPH5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014015
name: hereditary spastic paraplegia 56
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320411"}
subset: orphanet_rare {source="Orphanet:320411"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 56" EXACT [DOID:0110808]
synonym: "autosomal recessive spastic paraplegia type 56" EXACT [DOID:0110808]
synonym: "CYP2U1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia caused by mutation in CYP2U1" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 56" EXACT [DOID:0110808, MONDORULE:2]
synonym: "spastic paraplegia 56, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615030]
synonym: "SPG56" EXACT ABBREVIATION [DOID:0110808, MONDO:Lexical, OMIM:615030, Orphanet:320411]
xref: DOID:0110808 {source="MONDO:equivalentTo"}
xref: GARD:17480 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320411/attributed", source="Orphanet:320411/ntbt", source="Orphanet:320411", source="DOID:0110808"}
xref: MEDGEN:761343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615030 {source="Orphanet:320411", source="MONDO:equivalentTo", source="DOID:0110808", source="Orphanet:320411/e"}
xref: Orphanet:320411 {source="MONDO:equivalentTo", source="DOID:0110808", source="OMIM:615030"}
xref: UMLS:C3539507 {source="MEDGEN:761343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="DOID:0110808", source="MONDO:Redundant", source="OMIM:615030", source="Orphanet:320411/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20582 ! CYP2U1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20582 {source="MONDO:mim2gene_medgen"} ! CYP2U1

[Term]
id: MONDO:0014016
name: hereditary spastic paraplegia 49
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320385"}
subset: orphanet_rare {source="Orphanet:320385"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 49" EXACT [DOID:0110801]
synonym: "autosomal recessive spastic paraplegia type 49" EXACT [DOID:0110801]
synonym: "hereditary spastic paraplegia 49" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia caused by mutation in TECPR2" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 49" EXACT [DOID:0110801, MONDORULE:2]
synonym: "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay" EXACT [OMIM:615031, OMIM:genemap2]
synonym: "spastic paraplegia 49, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615031]
synonym: "SPG49" EXACT ABBREVIATION [DOID:0110801, MONDO:Lexical, OMIM:615031, Orphanet:320385]
synonym: "TECPR2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110801 {source="MONDO:equivalentTo"}
xref: GARD:13568 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320385", source="DOID:0110801", source="Orphanet:320385/attributed", source="Orphanet:320385/ntbt"}
xref: MEDGEN:762260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615031 {source="Orphanet:320385", source="DOID:0110801", source="MONDO:equivalentTo", source="Orphanet:320385/e"}
xref: Orphanet:320385 {source="DOID:0110801", source="MONDO:equivalentTo", source="OMIM:615031"}
xref: UMLS:C3542549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762260"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110801", source="MONDO:Redundant", source="OMIM:615031", source="Orphanet:320385/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19957 ! TECPR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19957 {source="MONDO:mim2gene_medgen"} ! TECPR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014017
name: intellectual developmental disorder with autism and macrocephaly
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:642675"}
subset: orphanet_rare {source="Orphanet:642675"}
subset: predisposition
subset: rare
synonym: "autism, susceptibility to, 18" EXACT DEPRECATED [MONDO:Lexical, OMIM:615032]
synonym: "autism, susceptibility to, type 18" EXACT DEPRECATED [MONDORULE:2, OMIM:615032]
synonym: "AUTS18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615032]
synonym: "CHD8 overgrowth syndrome" EXACT [Orphanet:642675]
synonym: "susceptibility to autism 18" RELATED DEPRECATED [OMIM:615032]
xref: MEDGEN:767287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615032 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:615032"}
xref: Orphanet:642675 {xref="MONDO:equivalentTo"}
xref: UMLS:C3554373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767287"}
is_a: MONDO:0020836 {source="OMIM:615032"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20153 ! CHD8
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20153 {source="MONDO:mim2gene_medgen"} ! CHD8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6823" xsd:anyURI

[Term]
id: MONDO:0014018
name: hereditary spastic paraplegia 54
def: "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." [Orphanet:320380]
subset: gard_rare {source="GARD:17475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320380"}
subset: orphanet_rare {source="Orphanet:320380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 54" EXACT [DOID:0110806]
synonym: "autosomal recessive spastic paraplegia type 54" EXACT [DOID:0110806]
synonym: "DDHD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 54" EXACT [DOID:0110806, MONDORULE:2]
synonym: "spastic paraplegia 54, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615033]
synonym: "SPG54" EXACT ABBREVIATION [DOID:0110806, MONDO:Lexical, OMIM:615033, Orphanet:320380]
xref: DOID:0110806 {source="MONDO:equivalentTo"}
xref: GARD:17475 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110806", source="Orphanet:320380/attributed", source="Orphanet:320380/ntbt", source="Orphanet:320380"}
xref: MEDGEN:761341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615033 {source="Orphanet:320380/e", source="MONDO:equivalentTo", source="DOID:0110806", source="Orphanet:320380"}
xref: Orphanet:320380 {source="MONDO:equivalentTo", source="DOID:0110806", source="OMIM:615033"}
xref: SCTID:723824005 {source="MONDO:equivalentTo"}
xref: UMLS:C3539495 {source="MEDGEN:761341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110806", source="MONDO:Redundant", source="OMIM:615033", source="Orphanet:320380/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29106 {source="MONDO:mim2gene_medgen"} ! DDHD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014019
name: dystonia 24
def: "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: DO classifies as purely focal
subset: gard_rare {source="GARD:17693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420485"}
subset: orphanet_rare {source="Orphanet:420485"}
subset: rare
synonym: "ANO3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cranio-cervical dystonia with laryngeal and upper-limb involvement" RELATED [Orphanet:420485]
synonym: "dystonia 24" EXACT [MONDO:Lexical, OMIM:615034, Orphanet:420485]
synonym: "dystonia type 24" EXACT [DOID:0090052, MONDORULE:2, OMIM:615034]
synonym: "dystonic disorder caused by mutation in ANO3" EXACT [MONDO:design_pattern]
synonym: "DYT-ANO3" EXACT [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "DYT24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615034, Orphanet:420485]
xref: DOID:0090052 {source="MONDO:equivalentTo"}
xref: GARD:17693 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="DOID:0090052", source="Orphanet:420485", source="Orphanet:420485/attributed", source="Orphanet:420485/ntbt"}
xref: MEDGEN:767288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615034 {source="DOID:0090052", source="Orphanet:420485", source="MONDO:equivalentTo", source="Orphanet:420485/e"}
xref: Orphanet:420485 {source="DOID:0090052", source="MONDO:equivalentTo", source="OMIM:615034"}
xref: UMLS:C3554374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767288"}
is_a: MONDO:0015990 {source="EFO:0009040", source="Orphanet:420485"} ! focal, segmental or multifocal dystonia
is_a: MONDO:0044807 {source="DOID:0090052/inferred", source="MONDO:Redundant", source="OMIM:615034"} ! inherited dystonia
intersection_of: MONDO:0044807 ! inherited dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14004 ! ANO3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14004 {source="MONDO:mim2gene_medgen"} ! ANO3

[Term]
id: MONDO:0014020
name: hereditary spastic paraplegia 55
subset: gard_rare {source="GARD:17474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320375"}
subset: orphanet_rare {source="Orphanet:320375"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 55" EXACT [DOID:0110807]
synonym: "autosomal recessive spastic paraplegia type 55" EXACT [DOID:0110807]
synonym: "hereditary spastic paraplegia type 55" EXACT [DOID:0110807, MONDORULE:2]
synonym: "spastic paraplegia 55, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615035]
synonym: "SPG55" EXACT ABBREVIATION [DOID:0110807, MONDO:Lexical, OMIM:615035, Orphanet:320375]
xref: DOID:0110807 {source="MONDO:equivalentTo"}
xref: GARD:17474 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320375/attributed", source="Orphanet:320375/ntbt", source="Orphanet:320375", source="DOID:0110807"}
xref: MEDGEN:761342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615035 {source="Orphanet:320375", source="MONDO:equivalentTo", source="Orphanet:320375/e", source="DOID:0110807"}
xref: Orphanet:320375 {source="MONDO:equivalentTo", source="DOID:0110807", source="OMIM:615035"}
xref: SCTID:723825006 {source="MONDO:equivalentTo"}
xref: UMLS:C3539506 {source="MEDGEN:761342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019064 {source="DOID:0110807", source="MONDO:Redundant", source="OMIM:615035", source="Orphanet:320375/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26784 ! MTRFR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26784 {source="MONDO:mim2gene_medgen"} ! MTRFR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014021
name: familial episodic pain syndrome with predominantly upper body involvement
subset: gard_rare {source="GARD:17618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391389"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "episodic pain syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:615040]
synonym: "episodic pain syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:615040]
synonym: "FEPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615040]
xref: DOID:0111729 {source="MONDO:equivalentTo"}
xref: GARD:17618 {source="MONDO:GARD"}
xref: ICD10CM:M79.6 {source="Orphanet:391389", source="Orphanet:391389/attributed", source="Orphanet:391389/ntbt"}
xref: MEDGEN:814997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615040 {source="Orphanet:391389/e", source="MONDO:equivalentTo", source="Orphanet:391389"}
xref: Orphanet:391384 {source="OMIM:615040"}
xref: Orphanet:391389 {source="MONDO:equivalentTo", source="OMIM:615040"}
xref: UMLS:C3808667 {source="MEDGEN:814997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018319 {source="OMIM:615040", source="Orphanet:391389"} ! familial episodic pain syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/497 {source="MONDO:mim2gene_medgen"} ! TRPA1

[Term]
id: MONDO:0014022
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615041]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10" RELATED [OMIM:615041]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" EXACT [MONDO:Lexical, OMIM:615041]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1" EXACT [MONDO:design_pattern]
synonym: "RXYLT1 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related" RELATED [OMIM:615041]
xref: DOID:0111239 {source="MONDO:equivalentTo"}
xref: GARD:15898 {source="MONDO:GARD"}
xref: MEDGEN:767295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615041 {source="MONDO:equivalentTo"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615041"}
xref: UMLS:C3554381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767295"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615041", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! muscle-eye-brain disease
intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13530 ! RXYLT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13530 {source="MONDO:mim2gene_medgen"} ! RXYLT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6272" xsd:anyURI

[Term]
id: MONDO:0014023
name: congenital muscular dystrophy with intellectual disability and severe epilepsy
subset: gard_rare {source="GARD:12416", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329178"}
subset: orphanet_rare {source="Orphanet:329178"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type Iu" EXACT [Orphanet:329178]
synonym: "CDG Iu" RELATED [OMIM:615042]
synonym: "CDG syndrome type Iu" EXACT [Orphanet:329178]
synonym: "CDG-Iu" EXACT [Orphanet:329178]
synonym: "CDG1U" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615042, Orphanet:329178]
synonym: "CMD with intellectual disability and severe epilepsy" EXACT [Orphanet:329178]
synonym: "congenital disorder of glycosylation type 1u" EXACT [Orphanet:329178]
synonym: "congenital disorder of glycosylation type Iu" EXACT [Orphanet:329178]
synonym: "congenital disorder of glycosylation, type Iu" RELATED [MONDO:Lexical, OMIM:615042]
synonym: "DPM2-CDG" EXACT [Orphanet:329178]
xref: DOID:0080571 {source="MONDO:equivalentTo"}
xref: GARD:12416 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:329178/attributed", source="Orphanet:329178/ntbt", source="Orphanet:329178"}
xref: MEDGEN:1682844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615042 {source="Orphanet:329178/e", source="MONDO:equivalentTo", source="Orphanet:329178"}
xref: Orphanet:329178 {source="MONDO:equivalentTo", source="OMIM:615042"}
xref: UMLS:C5190603 {source="MEDGEN:1682844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005500 {source="DC-OMIM:615042"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MONDO:0014023/inferred", source="MONDO:Redundant", source="OMIM:615042", source="Orphanet:329178/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017749 {source="Orphanet:329178"} ! disorder of multiple glycosylation
is_a: MONDO:0018276 {source="Orphanet:329178"} ! muscular dystrophy-dystroglycanopathy
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3006 {source="MONDO:mim2gene_medgen"} ! DPM2

[Term]
id: MONDO:0014024
name: hereditary spastic paraplegia 43
def: "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." [Orphanet:320370]
subset: gard_rare {source="GARD:17473", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320370"}
subset: orphanet_rare {source="Orphanet:320370"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 43" EXACT [DOID:0110795]
synonym: "autosomal recessive spastic paraplegia type 43" EXACT [DOID:0110795]
synonym: "C19orf12 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 43" EXACT [DOID:0110795, MONDORULE:2]
synonym: "spastic paraplegia 43, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615043]
synonym: "SPG43" EXACT ABBREVIATION [DOID:0110795, MONDO:Lexical, OMIM:615043, Orphanet:320370]
xref: DOID:0110795 {source="MONDO:equivalentTo"}
xref: GARD:17473 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320370/attributed", source="Orphanet:320370/ntbt", source="Orphanet:320370", source="DOID:0110795"}
xref: MEDGEN:760531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615043 {source="Orphanet:320370/e", source="MONDO:equivalentTo", source="Orphanet:320370", source="DOID:0110795"}
xref: Orphanet:320370 {source="MONDO:equivalentTo", source="OMIM:615043", source="DOID:0110795"}
xref: SCTID:764736001 {source="MONDO:equivalentTo"}
xref: UMLS:C2680446 {source="MEDGEN:760531", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110795", source="MONDO:Redundant", source="OMIM:615043", source="Orphanet:320370/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25443 {source="MONDO:mim2gene_medgen"} ! C19orf12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014025
name: lower motor neuron syndrome with late-adult onset
subset: gard_rare {source="GARD:17282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276435"}
subset: orphanet_rare {source="Orphanet:276435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SMAJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615048]
synonym: "spinal muscular atrophy, Jokela type" RELATED [MONDO:Lexical, OMIM:615048]
xref: DOID:0081356 {source="MONDO:equivalentTo"}
xref: GARD:17282 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:276435", source="Orphanet:276435/attributed", source="Orphanet:276435/ntbt"}
xref: MEDGEN:767312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615048 {source="MONDO:equivalentTo", source="Orphanet:276435", source="Orphanet:276435/e"}
xref: Orphanet:276435 {source="OMIM:615048", source="MONDO:equivalentTo"}
xref: UMLS:C3554398 {source="MEDGEN:767312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DC-OMIM:615048"} ! spinal muscular atrophy
is_a: MONDO:0019079 {source="https://orcid.org/0000-0002-5002-8648"} ! proximal spinal muscular atrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15559 {source="MONDO:mim2gene_medgen"} ! CHCHD10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014026
name: congenital stationary night blindness 1F
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15899", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT [DOID:0110864]
synonym: "congenital stationary night blindness caused by mutation in LRIT3" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1F" EXACT [DOID:0110864, MONDORULE:4]
synonym: "CSNB1F" EXACT ABBREVIATION [DOID:0110864, MONDO:Lexical, OMIM:615058]
synonym: "LRIT3 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary (complete), 1F, autosomal recessive" EXACT [OMIM:615058, OMIM:genemap2]
synonym: "night blindness, congenital stationary, type 1F" RELATED [MONDO:Lexical, OMIM:615058]
xref: DOID:0110864 {source="MONDO:equivalentTo"}
xref: GARD:15899 {source="MONDO:GARD"}
xref: MEDGEN:767313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615058 {source="DOID:0110864", source="MONDO:equivalentTo"}
xref: Orphanet:215 {source="OMIM:615058"}
xref: UMLS:C3554399 {source="MEDGEN:767313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:615058", source="DOID:0110864", source="MONDO:Redundant", source="OMIM:615058"} ! congenital stationary night blindness
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24783 ! LRIT3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24783 {source="MONDO:mim2gene_medgen"} ! LRIT3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014027
name: hypotrichosis 11
def: "Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypotrichosis 11" EXACT [MONDO:Lexical, OMIM:615059]
synonym: "hypotrichosis caused by mutation in SNRPE" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 11" EXACT [DOID:0110708, MONDORULE:2, OMIM:615059]
synonym: "HYPT11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615059]
synonym: "hypt11" EXACT [DOID:0110708]
synonym: "SNRPE hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110708 {source="MONDO:equivalentTo"}
xref: GARD:15900 {source="MONDO:GARD"}
xref: MEDGEN:767323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615059 {source="MONDO:equivalentTo", source="DOID:0110708"}
xref: Orphanet:55654 {source="OMIM:615059"}
xref: UMLS:C3554409 {source="MEDGEN:767323", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003037 {source="DOID:0110708", source="MONDO:Redundant", source="OMIM:615059"} ! hypotrichosis
is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11161 ! SNRPE
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11161 {source="MONDO:mim2gene_medgen"} ! SNRPE

[Term]
id: MONDO:0014028
name: distal arthrogryposis type 5D
def: "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." [Orphanet:329457]
subset: gard_rare {source="GARD:13059", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329457"}
subset: orphanet_rare {source="Orphanet:329457"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis, distal, type 5D" RELATED [MONDO:Lexical, OMIM:615065]
synonym: "DA5D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615065, Orphanet:329457]
synonym: "distal arthrogryposis caused by mutation in ECEL1" EXACT [MONDO:design_pattern]
synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [Orphanet:329457]
synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [Orphanet:329457]
synonym: "ECEL1 distal arthrogryposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111594 {source="MONDO:equivalentTo"}
xref: GARD:13059 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:329457/attributed", source="Orphanet:329457/ntbt", source="Orphanet:329457"}
xref: MEDGEN:767329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615065 {source="Orphanet:329457/e", source="MONDO:equivalentTo", source="Orphanet:329457"}
xref: Orphanet:329457 {source="MONDO:equivalentTo", source="OMIM:615065"}
xref: UMLS:C3554415 {source="MEDGEN:767329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019942 {source="DC-OMIM:615065", source="MONDO:Redundant", source="Orphanet:329457"} ! distal arthrogryposis
intersection_of: MONDO:0019942 ! distal arthrogryposis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3147 ! ECEL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3147 {source="MONDO:mim2gene_medgen"} ! ECEL1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d" xsd:anyURI {source="GARD:0013059"}

[Term]
id: MONDO:0014029
name: osteogenesis imperfecta type 14
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15901", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI, type 14" RELATED [OMIM:615066]
synonym: "OI14" EXACT ABBREVIATION [DOID:0110343, MONDO:Lexical, OMIM:615066]
synonym: "osteogenesis imperfecta caused by mutation in TMEM38B" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XIV" EXACT [DOID:0110343]
synonym: "osteogenesis imperfecta, type 14" RELATED [OMIM:615066]
synonym: "osteogenesis imperfecta, type XIV" RELATED [MONDO:Lexical, OMIM:615066]
synonym: "TMEM38B osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110343 {source="MONDO:equivalentTo"}
xref: GARD:15901 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110343"}
xref: MEDGEN:767342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615066 {source="MONDO:equivalentTo", source="DOID:0110343"}
xref: Orphanet:216820 {source="OMIM:615066", source="MONDO:directSiblingOf"}
xref: Orphanet:666 {source="OMIM:615066"}
xref: UMLS:C3554428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767342"}
is_a: MONDO:0019019 {source="DC-OMIM:615066", source="DOID:0110343", source="MONDO:Redundant", source="OMIM:615066"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25535 ! TMEM38B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25535 {source="MONDO:mim2gene_medgen"} ! TMEM38B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014030
name: primary ciliary dyskinesia 20
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCDC114 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD20" EXACT ABBREVIATION [DOID:0110625, MONDO:Lexical, OMIM:615067]
synonym: "ciliary dyskinesia, primary, 20" RELATED [MONDO:Lexical, OMIM:615067]
synonym: "ciliary dyskinesia, primary, 20, with or without situs inversus" RELATED [OMIM:615067]
synonym: "ciliary dyskinesia, primary, type 20" EXACT [MONDORULE:2, OMIM:615067]
synonym: "primary ciliary dyskinesia 20 with or without situs inversus" EXACT [DOID:0110625]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC114" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 20" EXACT [DOID:0110625, MONDORULE:2]
xref: DOID:0110625 {source="MONDO:equivalentTo"}
xref: GARD:15902 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110625"}
xref: MEDGEN:761920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615067 {source="DOID:0110625", source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:615067"}
xref: UMLS:C3540844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761920"}
is_a: MONDO:0016575 {source="DC-OMIM:615067", source="DOID:0110625", source="MONDO:Redundant", source="OMIM:615067"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26560 ! ODAD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26560 {source="MONDO:mim2gene_medgen"} ! ODAD1

[Term]
id: MONDO:0014031
name: microcephalic primordial dwarfism, Alazami type
def: "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." [Orphanet:319671]
subset: gard_rare {source="GARD:17468", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319671"}
subset: ordo_malformation_syndrome {source="Orphanet:319671"}
subset: orphanet_rare {source="Orphanet:319671"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alazami syndrome" EXACT [MONDO:Lexical, OMIM:615071, Orphanet:319671]
synonym: "ALAZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615071]
synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" RELATED [OMIM:615071]
xref: GARD:17468 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:319671", source="Orphanet:319671/attributed", source="Orphanet:319671/ntbt"}
xref: MEDGEN:767353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615071 {source="MONDO:equivalentTo", source="Orphanet:319671", source="Orphanet:319671/e"}
xref: Orphanet:319671 {source="MONDO:equivalentTo", source="OMIM:615071"}
xref: UMLS:C3554439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767353"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:37529055", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0800063 {source="PMID:37529055", source="https://orcid.org/0009-0001-6494-4831"} ! primordial dwarfism and slender bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24912 {source="MONDO:mim2gene_medgen"} ! LARP7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014032
name: brachydactyly type A1C
def: "Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDA1C" EXACT ABBREVIATION [DOID:0110977, MONDO:Lexical, OMIM:615072]
synonym: "brachydactyly type A1 caused by mutation in GDF5" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type A1, C" RELATED [MONDO:Lexical, OMIM:615072]
synonym: "GDF5 brachydactyly type A1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110977 {source="MONDO:equivalentTo"}
xref: GARD:15903 {source="MONDO:GARD"}
xref: MEDGEN:767360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615072 {source="DOID:0110977", source="MONDO:equivalentTo"}
xref: Orphanet:93388 {source="OMIM:615072"}
xref: UMLS:C3554446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767360"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
relationship: excluded_subClassOf MONDO:0007215 {source="DOID:0110977", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5

[Term]
id: MONDO:0014033
name: dystonia 25
def: "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia." [Orphanet:329466]
subset: gard_rare {source="GARD:10667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329466"}
subset: orphanet_rare {source="Orphanet:329466"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant focal dystonia, DYT25 type" RELATED [Orphanet:329466]
synonym: "dystonia 25" EXACT [MONDO:Lexical, OMIM:615073]
synonym: "dystonia type 25" EXACT [DOID:0090055, MONDORULE:2, OMIM:615073]
synonym: "dystonic disorder caused by mutation in GNAL" EXACT [MONDO:design_pattern]
synonym: "DYT25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615073]
synonym: "GNAL dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090055 {source="MONDO:equivalentTo"}
xref: GARD:10667 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="DOID:0090055", source="Orphanet:329466/attributed", source="Orphanet:329466/ntbt", source="Orphanet:329466"}
xref: MEDGEN:930339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615073 {source="Orphanet:329466/e", source="DOID:0090055", source="MONDO:equivalentTo", source="Orphanet:329466"}
xref: Orphanet:329466 {source="DOID:0090055", source="MONDO:equivalentTo", source="OMIM:615073"}
xref: UMLS:C4304670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930339"}
is_a: MONDO:0000478 {source="DOID:0090055"} ! multifocal dystonia
is_a: MONDO:0015990 {source="Orphanet:329466"} ! focal, segmental or multifocal dystonia
is_a: MONDO:0044807 {source="DOID:0090055/inferred", source="MONDO:Redundant", source="OMIM:615073"} ! inherited dystonia
intersection_of: MONDO:0044807 ! inherited dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4388 ! GNAL
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4388 {source="MONDO:mim2gene_medgen"} ! GNAL

[Term]
id: MONDO:0014034
name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." [DOID:0070048]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363686"}
subset: orphanet_rare {source="Orphanet:363686"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 18" EXACT [DOID:0070048]
synonym: "autosomal dominant mental retardation 18" EXACT DEPRECATED [DOID:0070048]
synonym: "autosomal dominant non-syndromic intellectual disability 18" RELATED [DOID:0070048]
synonym: "GAND syndrome" EXACT [OMIM:615074, OMIM:genemap2]
synonym: "GATAD2B-associated neurodevelopmental disorder" RELATED [GARD:0012815]
synonym: "intellectual disability, autosomal dominant 18" RELATED [MONDO:Lexical, OMIM:615074]
synonym: "intellectual disability, autosomal dominant type 18" EXACT [MONDORULE:2, OMIM:615074]
synonym: "mental retardation, autosomal dominant 18" RELATED DEPRECATED [MONDO:Lexical, OMIM:615074]
synonym: "mental retardation, autosomal dominant type 18" EXACT DEPRECATED [MONDORULE:2, OMIM:615074]
synonym: "MRD18" EXACT ABBREVIATION [DOID:0070048, MONDO:Lexical, OMIM:615074]
synonym: "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0070048 {source="MONDO:equivalentTo"}
xref: GARD:12815 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:363686", source="Orphanet:363686/attributed", source="Orphanet:363686/ntbt"}
xref: MEDGEN:767362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615074 {source="MONDO:equivalentTo", source="DOID:0070048", source="Orphanet:363686", source="Orphanet:363686/e"}
xref: Orphanet:363686 {source="MONDO:equivalentTo", source="OMIM:615074"}
xref: UMLS:C3554448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767362"}
is_a: MONDO:0000508 {source="Orphanet:363686", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:363686"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070048", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30778 {source="MONDO:mim2gene_medgen"} ! GATAD2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014035
name: severe intellectual disability-progressive spastic diplegia syndrome
def: "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404473"}
subset: ordo_malformation_syndrome {source="Orphanet:404473"}
subset: orphanet_rare {source="Orphanet:404473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 19" EXACT [DOID:0070049]
synonym: "autosomal dominant mental retardation 19" EXACT DEPRECATED [DOID:0070049]
synonym: "autosomal dominant non-syndromic intellectual disability 19" RELATED [DOID:0070049]
synonym: "CTNNB1-related intellectual disability" RELATED [GARD:0003505]
synonym: "intellectual disability, autosomal dominant 19" RELATED [GARD:0003505, MONDO:Lexical, OMIM:615075]
synonym: "intellectual disability, autosomal dominant type 19" EXACT [MONDORULE:2, OMIM:615075]
synonym: "mental retardation, autosomal dominant 19" RELATED DEPRECATED [MONDO:Lexical, OMIM:615075]
synonym: "mental retardation, autosomal dominant type 19" EXACT DEPRECATED [MONDORULE:2, OMIM:615075]
synonym: "MRD19" EXACT ABBREVIATION [DOID:0070049, MONDO:Lexical, OMIM:615075]
synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" EXACT [OMIM:615075, OMIM:genemap2]
synonym: "severe intellectual disability-progressive spastic diplegia syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0070049 {source="MONDO:equivalentTo"}
xref: GARD:3505 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:404473/attributed", source="Orphanet:404473/ntbt", source="Orphanet:404473"}
xref: MEDGEN:767363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615075 {source="Orphanet:404473/e", source="DOID:0070049", source="MONDO:equivalentTo", source="Orphanet:404473"}
xref: Orphanet:404473 {source="MONDO:equivalentTo", source="OMIM:615075"}
xref: UMLS:C3554449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767363"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404473", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:404473"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100571 {source="https://clinicalgenome.org/affiliation/40006/"} ! CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070049", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2514 {source="MONDO:mim2gene_medgen"} ! CTNNB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7572" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome" xsd:anyURI {source="GARD:0003505"}

[Term]
id: MONDO:0014036
name: Alzheimer disease 17
def: "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2." [DOID:0110049, PMID:23150934]
synonym: "AD17" EXACT ABBREVIATION [DOID:0110049, MONDO:Lexical, OMIM:615080]
synonym: "Alzheimer disease 17" EXACT [DOID:0110049, MONDO:Lexical, OMIM:615080]
synonym: "Alzheimer disease 17, late onset" EXACT [DOID:0110049]
synonym: "Alzheimer disease 17, late-onset" RELATED [OMIM:615080]
synonym: "Alzheimer's disease 17" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 17" EXACT [DOID:0110049, MONDORULE:2]
xref: DOID:0110049 {source="MONDO:equivalentTo"}
xref: MEDGEN:767366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615080 {source="DOID:0110049", source="MONDO:equivalentTo"}
xref: UMLS:C3554452 {source="MEDGEN:767366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004975 {source="DC-OMIM:615080", source="DOID:0110049"} ! Alzheimer disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0014037
name: spermatogenic failure 11
def: "Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15904", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "azoospermia caused by mutation in KLHL10" EXACT [MONDO:design_pattern]
synonym: "KLHL10 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 11" EXACT [MONDO:Lexical, OMIM:615081]
synonym: "spermatogenic failure type 11" EXACT [MONDORULE:2, OMIM:615081]
synonym: "SPGF11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615081]
xref: DOID:0070180 {source="MONDO:equivalentTo"}
xref: GARD:15904 {source="MONDO:GARD"}
xref: MEDGEN:767367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615081 {source="MONDO:equivalentTo"}
xref: UMLS:C3554453 {source="MEDGEN:767367", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:615081", source="MONDO:Redundant", source="OMIM:615081"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18829 ! KLHL10
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18829 ! KLHL10
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18829 {source="MONDO:mim2gene_medgen"} ! KLHL10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18829 {source="MONDO:mim2gene_medgen"} ! KLHL10

[Term]
id: MONDO:0014038
name: colorectal cancer, susceptibility to, 12
def: "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene." [MONDO:patterns/disease_series_by_gene]
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "colorectal cancer caused by mutation in POLE" EXACT [MONDO:design_pattern]
synonym: "colorectal cancer, susceptibility to, 12" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615083]
synonym: "colorectal cancer, susceptibility to, on chromosome 12Q24" RELATED [OMIM:615083]
synonym: "colorectal cancer, susceptibility to, type 12" EXACT [MONDORULE:2, OMIM:615083]
synonym: "CRCS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615083]
synonym: "POLE colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to colorectal cancer 12" RELATED [OMIM:615083]
xref: MEDGEN:767374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615083 {source="MONDO:equivalentTo"}
xref: UMLS:C3554460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767374"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9177 ! POLE
intersection_of: predisposes_towards MONDO:0005575 ! colorectal cancer
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9177 {source="MONDO:mim2gene_medgen"} ! POLE

[Term]
id: MONDO:0014039
name: mitochondrial DNA depletion syndrome 11
def: "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported." [Orphanet:352447]
subset: gard_rare {source="GARD:17517", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352447"}
subset: orphanet_rare {source="Orphanet:352447"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MGME1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mitochondrial DNA depletion syndrome 11" EXACT [MONDO:Lexical, OMIM:615084]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in MGME1" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 11" EXACT [DOID:0080129, MONDORULE:2, OMIM:615084]
synonym: "mitochondrial DNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447]
synonym: "mtDNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447]
synonym: "MTDPS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615084]
synonym: "PEO-myopathy-emaciation syndrome" EXACT [Orphanet:352447]
synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" RELATED [Orphanet:352447]
xref: DOID:0080129 {source="MONDO:equivalentTo"}
xref: GARD:17517 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:352447", source="Orphanet:352447/attributed", source="Orphanet:352447/ntbt"}
xref: MEDGEN:767376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615084 {source="MONDO:equivalentTo", source="Orphanet:352447", source="DOID:0080129", source="Orphanet:352447/e"}
xref: Orphanet:352447 {source="MONDO:equivalentTo", source="OMIM:615084"}
xref: UMLS:C3554462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767376"}
is_a: MONDO:0018158 {source="DC-OMIM:615084", source="MONDO:Redundant", source="OMIM:615084"} ! mitochondrial DNA depletion syndrome
intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16205 ! MGME1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16205 {source="MONDO:mim2gene_medgen"} ! MGME1

[Term]
id: MONDO:0014040
name: autosomal recessive osteopetrosis 8
def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive malignant osteopetrosis caused by mutation in SNX10" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive osteopetrosis caused by mutation in SNX10" EXACT []
synonym: "autosomal recessive osteopetrosis type 8" EXACT [DOID:0110940, MONDORULE:1]
synonym: "OPTB8" EXACT ABBREVIATION [DOID:0110940, MONDO:Lexical, OMIM:615085]
synonym: "osteopetrosis, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:615085]
synonym: "osteopetrosis, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:615085]
synonym: "SNX10 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern]
synonym: "SNX10 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0110940 {source="MONDO:equivalentTo"}
xref: GARD:15905 {source="MONDO:GARD"}
xref: MEDGEN:767392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C150556 {source="MONDO:equivalentTo"}
xref: OMIM:615085 {source="DOID:0110940", source="MONDO:equivalentTo"}
xref: Orphanet:667 {source="OMIM:615085"}
xref: UMLS:C3554478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767392"}
is_a: MONDO:0017198 {source="DOID:0110940", source="MONDO:Redundant", source="NCIT:C150556/inferred", source="OMIM:615085", source="PMID:31633310"} ! osteopetrosis
is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis
intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14974 ! SNX10
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14974 {source="MONDO:mim2gene_medgen"} ! SNX10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014041
name: autism, susceptibility to, 19
comment: Not listed in the OMIM series but the page directs you to 209850 for the full details. {source="OMIM:615091"}
subset: predisposition
synonym: "autism, susceptibility to, 19" EXACT [MONDO:Lexical, OMIM:615091]
synonym: "autism, susceptibility to, type 19" EXACT [MONDORULE:2, OMIM:615091]
synonym: "AUTS19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615091]
synonym: "susceptibility to autism 19" RELATED [OMIM:615091]
xref: MEDGEN:767409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615091 {source="MONDO:equivalentTo"}
xref: Orphanet:106 {source="OMIM:615091"}
xref: UMLS:C3554495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767409"}
is_a: MONDO:0020836 {source="OMIM:615091"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3287 ! EIF4E
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3287 {source="MONDO:mim2gene_medgen"} ! EIF4E

[Term]
id: MONDO:0014042
name: left ventricular noncompaction 7
def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "left ventricular noncompaction 7" EXACT [MONDO:Lexical, OMIM:615092]
synonym: "left ventricular noncompaction caused by mutation in MIB1" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction type 7" EXACT [MONDORULE:1, OMIM:615092]
synonym: "LVNC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615092]
synonym: "MIB1 left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15906 {source="MONDO:GARD"}
xref: MEDGEN:767410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C157266 {source="MONDO:equivalentTo"}
xref: OMIM:615092 {source="MONDO:equivalentTo"}
xref: Orphanet:54260 {source="OMIM:615092"}
xref: UMLS:C3554496 {source="MEDGEN:767410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018901 {source="DC-OMIM:615092", source="MONDO:Redundant", source="OMIM:615092"} ! left ventricular noncompaction
intersection_of: MONDO:0018901 ! left ventricular noncompaction
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21086 ! MIB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21086 {source="MONDO:mim2gene_medgen"} ! MIB1

[Term]
id: MONDO:0014043
name: microcephalic primordial dwarfism due to ZNF335 deficiency
def: "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." [Orphanet:329228]
subset: gard_rare {source="GARD:17498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329228"}
subset: ordo_malformation_syndrome {source="Orphanet:329228"}
subset: orphanet_rare {source="Orphanet:329228"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCPH10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615095]
synonym: "microcephalic primordial dwarfism, Walsh type" EXACT [Orphanet:329228]
synonym: "microcephaly 10, primary, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615095]
synonym: "primary autosomal recessive microcephaly 10" RELATED [DOID:0070294]
xref: DOID:0070294 {source="MONDO:equivalentTo"}
xref: GARD:17498 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:329228", source="Orphanet:329228/attributed", source="Orphanet:329228/ntbt"}
xref: MEDGEN:767413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615095 {source="Orphanet:329228", source="MONDO:equivalentTo", source="Orphanet:329228/e"}
xref: Orphanet:329228 {source="MONDO:equivalentTo", source="OMIM:615095"}
xref: SCTID:724141003 {source="MONDO:equivalentTo"}
xref: UMLS:C3554499 {source="MEDGEN:767413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0016660 {source="DC-OMIM:615095", source="OMIM:615095"} ! autosomal recessive primary microcephaly
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15807 {source="MONDO:mim2gene_medgen"} ! ZNF335
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0014044
name: dysmorphism-conductive hearing loss-heart defect syndrome
def: "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." [OMIM:615102]
subset: gard_rare {source="GARD:17328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289553"}
subset: ordo_malformation_syndrome {source="Orphanet:289553"}
subset: orphanet_rare {source="Orphanet:289553"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TYSHCHENKO syndrome" RELATED [OMIM:615102]
xref: GARD:17328 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:289553/attributed", source="Orphanet:289553/ntbt", source="Orphanet:289553"}
xref: MEDGEN:767688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615102 {source="Orphanet:289553", source="MONDO:equivalentTo", source="Orphanet:289553/e"}
xref: Orphanet:289553 {source="OMIM:615102", source="MONDO:equivalentTo"}
xref: SCTID:763279007 {source="MONDO:equivalentTo"}
xref: UMLS:C3554774 {source="MEDGEN:767688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:289553"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:289553", source="Orphanet:289553/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0014045
name: Cowden syndrome 3
def: "Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cowden disease caused by mutation in SDHD" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 3" EXACT [MONDO:Lexical, OMIM:615106]
synonym: "Cowden syndrome type 3" EXACT [MONDORULE:1, OMIM:615106]
synonym: "CWS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615106]
synonym: "SDHD Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:615106 {source="MONDO:equivalentObsolete"}
xref: Orphanet:201 {source="OMIM:615106"}
is_a: MONDO:0016063 {source="DC-OMIM:615106", source="MONDO:Redundant", source="OMIM:615106"} ! Cowden disease
intersection_of: MONDO:0016063 ! Cowden disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 ! SDHD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 {source="MONDO:mim2gene_medgen"} ! SDHD

[Term]
id: MONDO:0014046
name: Cowden syndrome 4
def: "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16463", source="MONDO:GARD"}
subset: rare
synonym: "Cowden disease caused by mutation in KLLN" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 4" EXACT [MONDO:Lexical, OMIM:615107]
synonym: "Cowden syndrome type 4" EXACT [MONDORULE:1, OMIM:615107]
synonym: "CWS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615107]
synonym: "KLLN Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081000 {source="MONDO:equivalentTo"}
xref: GARD:16463 {source="MONDO:GARD"}
xref: MEDGEN:767431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615107 {source="MONDO:equivalentTo"}
xref: Orphanet:201 {source="OMIM:615107"}
xref: UMLS:C3554517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767431"}
is_a: MONDO:0016063 {source="DC-OMIM:615107", source="MONDO:Redundant", source="OMIM:615107"} ! Cowden disease
intersection_of: MONDO:0016063 ! Cowden disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37212 ! KLLN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37212 {source="MONDO:mim2gene_medgen"} ! KLLN

[Term]
id: MONDO:0014047
name: Cowden syndrome 5
def: "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16464", source="MONDO:GARD"}
subset: rare
synonym: "Cowden disease caused by mutation in PIK3CA" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 5" EXACT [MONDO:Lexical, OMIM:615108]
synonym: "Cowden syndrome type 5" EXACT [MONDORULE:1, OMIM:615108]
synonym: "CWS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615108]
synonym: "PIK3CA Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081001 {source="MONDO:equivalentTo"}
xref: GARD:16464 {source="MONDO:GARD"}
xref: MEDGEN:767432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615108 {source="MONDO:equivalentTo"}
xref: Orphanet:201 {source="OMIM:615108"}
xref: UMLS:C3554518 {source="MEDGEN:767432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016063 {source="DC-OMIM:615108", source="MONDO:Redundant", source="OMIM:615108"} ! Cowden disease
is_a: MONDO:1040002 {source="PMID:23592320", source="PMID:25557259", source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3CA-related overgrowth spectrum
intersection_of: MONDO:0016063 ! Cowden disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 ! PIK3CA
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615108"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA

[Term]
id: MONDO:0014048
name: Cowden syndrome 6
def: "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16465", source="MONDO:GARD"}
subset: rare
synonym: "AKT1 Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Cowden disease caused by mutation in AKT1" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 6" EXACT [MONDO:Lexical, OMIM:615109]
synonym: "Cowden syndrome type 6" EXACT [MONDORULE:1, OMIM:615109]
synonym: "CWS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615109]
xref: DOID:0081002 {source="MONDO:equivalentTo"}
xref: GARD:16465 {source="MONDO:GARD"}
xref: MEDGEN:767433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615109 {source="MONDO:equivalentTo"}
xref: Orphanet:201 {source="OMIM:615109"}
xref: UMLS:C3554519 {source="MEDGEN:767433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016063 {source="DC-OMIM:615109", source="MONDO:Redundant", source="OMIM:615109"} ! Cowden disease
intersection_of: MONDO:0016063 ! Cowden disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/391 ! AKT1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615109"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/391 {source="MONDO:mim2gene_medgen"} ! AKT1

[Term]
id: MONDO:0014049
name: urofacial syndrome 2
def: "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15907", source="MONDO:GARD"}
subset: rare
synonym: "LRIG2 Ochoa syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Ochoa syndrome caused by mutation in LRIG2" EXACT [MONDO:design_pattern]
synonym: "UFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615112]
synonym: "urofacial syndrome 2" EXACT [MONDO:Lexical, OMIM:615112]
synonym: "urofacial syndrome type 2" EXACT [MONDORULE:1, OMIM:615112]
xref: GARD:15907 {source="MONDO:GARD"}
xref: MEDGEN:767434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615112 {source="MONDO:equivalentTo"}
xref: UMLS:C3554520 {source="MEDGEN:767434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000463 {source="DC-OMIM:615112", source="MONDO:Redundant", source="OMIM:615112"} ! Ochoa syndrome
intersection_of: MONDO:0000463 ! Ochoa syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20889 ! LRIG2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615112"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20889 {source="MONDO:mim2gene_medgen"} ! LRIG2

[Term]
id: MONDO:0014050
name: isolated microphthalmia 8
def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALDH1A3 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "isolated microphthalmia 8" EXACT CLINGEN_LABEL []
synonym: "isolated microphthalmia caused by mutation in ALDH1A3" EXACT [MONDO:design_pattern]
synonym: "isolated microphthalmia type 8" EXACT [DOID:0060841, MONDORULE:1]
synonym: "MCOP8" EXACT ABBREVIATION [DOID:0060841, MONDO:Lexical, OMIM:615113]
synonym: "microphthalmia, isolated 8" RELATED [MONDO:Lexical, OMIM:615113]
synonym: "microphthalmia, isolated type 8" EXACT [MONDORULE:1, OMIM:615113]
xref: DOID:0060841 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q11.0 {source="DOID:0060841"}
xref: MEDGEN:767438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615113 {source="MONDO:equivalentTo", source="DOID:0060841"}
xref: Orphanet:2542 {source="OMIM:615113", source="DOID:0060841"}
xref: UMLS:C3554524 {source="MONDO:equivalentTo", source="MEDGEN:767438", source="MONDO:MEDGEN"}
is_a: MONDO:0000062 {source="DC-OMIM:615113", source="MONDO:Redundant", source="OMIM:615113"} ! isolated microphthalmia
is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome
intersection_of: MONDO:0000062 ! isolated microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/409 ! ALDH1A3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/409 {source="MONDO:mim2gene_medgen"} ! ALDH1A3

[Term]
id: MONDO:0014051
name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615119]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2" EXACT [MONDORULE:1, OMIM:615119]
synonym: "CEMCOX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615119]
synonym: "COX15 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COX15" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex IV deficiency, nuclear type 6" EXACT [OMIM:615119, OMIM:genemap2]
xref: DOID:0080358 {source="MONDO:equivalentTo"}
xref: GARD:18571 {source="MONDO:GARD"}
xref: MEDGEN:767448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615119 {source="MONDO:equivalentTo"}
xref: Orphanet:1561 {source="OMIM:615119"}
xref: UMLS:C3554534 {source="MEDGEN:767448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015487 {source="DC-OMIM:615119", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy
intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2263 ! COX15
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2263 {source="MONDO:mim2gene_medgen"} ! COX15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014052
name: congenital myasthenic syndrome 8
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGRN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS8" EXACT ABBREVIATION [DOID:0110657, MONDO:Lexical, OMIM:615120]
synonym: "congenital myasthenic syndrome 8" EXACT CLINGEN_LABEL []
synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT [DOID:0110657]
synonym: "congenital myasthenic syndrome caused by mutation in AGRN" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT [DOID:0110657]
synonym: "congenital myasthenic syndrome type 8" EXACT [DOID:0110657, MONDORULE:1]
synonym: "myasthenic syndrome, congenital, 8" RELATED [MONDO:Lexical, OMIM:615120]
synonym: "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects" EXACT [OMIM:615120, OMIM:genemap2]
synonym: "myasthenic syndrome, congenital, due to agrin deficiency" RELATED [OMIM:615120]
synonym: "myasthenic syndrome, congenital, type 8" EXACT [MONDORULE:1, OMIM:615120]
synonym: "myasthenic syndrome, congenital, with Pre- and postsynaptic defects" RELATED [OMIM:615120]
xref: DOID:0110657 {source="MONDO:equivalentTo"}
xref: GARD:15908 {source="MONDO:GARD"}
xref: MEDGEN:815069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615120 {source="DOID:0110657", source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:615120"}
xref: Orphanet:98914 {source="OMIM:615120"}
xref: UMLS:C3808739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815069"}
is_a: MONDO:0018940 {source="DOID:0110657", source="MONDO:Redundant", source="OMIM:615120"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/329 ! AGRN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/329 {source="MONDO:mim2gene_medgen"} ! AGRN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014053
name: obsolete stomatin-like protein-2, hyperphosphorylation of
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "hyperphosphorylated Paratarg-7" RELATED [OMIM:615121]
synonym: "stomatin-like protein-2, hyperphosphorylation of" EXACT [OMIM:615121]
xref: OMIM:615121 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0014054
name: lymphoproliferative syndrome 2
def: "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CD27 deficiency" RELATED EXCLUDE [DOID:0060708]
synonym: "CD27 lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LPFS2" EXACT ABBREVIATION [DOID:0060708, MONDO:Lexical, OMIM:615122]
synonym: "lymphoproliferative syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615122]
synonym: "lymphoproliferative syndrome caused by mutation in CD27" EXACT [MONDO:design_pattern]
synonym: "lymphoproliferative syndrome type 2" EXACT [DOID:0060708, MONDORULE:1, OMIM:615122]
xref: DOID:0060708 {source="MONDO:equivalentTo"}
xref: ICD10CM:D47.9 {source="DOID:0060708"}
xref: MEDGEN:767454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615122 {source="DOID:0060708", source="MONDO:equivalentTo"}
xref: Orphanet:238505 {source="OMIM:615122"}
xref: UMLS:C3554540 {source="MEDGEN:767454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016537 {source="DOID:0060708", source="MONDO:Redundant", source="OMIM:615122"} ! lymphoproliferative syndrome
intersection_of: MONDO:0016537 ! lymphoproliferative syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11922 ! CD27
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11922 {source="MONDO:mim2gene_medgen"} ! CD27

[Term]
id: MONDO:0014055
name: epilepsy, familial adult myoclonic, 4
subset: gard_rare {source="GARD:18085", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cortical myoclonic tremor with epilepsy, familial, 4" RELATED [OMIM:615127]
synonym: "epilepsy, familial ADULT myoclonic, 4" RELATED [MONDO:Lexical, OMIM:615127]
synonym: "epilepsy, myoclonic, familial adult, 4" EXACT [OMIM:615127, OMIM:genemap2]
synonym: "FAME4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615127]
xref: DOID:0111693 {source="MONDO:equivalentTo"}
xref: GARD:18085 {source="MONDO:GARD"}
xref: MEDGEN:767474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615127 {source="MONDO:equivalentTo"}
xref: Orphanet:86814 {source="OMIM:615127"}
xref: UMLS:C3554560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767474"}
is_a: MONDO:0000160 {source="DC-OMIM:615127", source="OMIM:615127"} ! epilepsy, familial adult myoclonic
relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014056
name: melanoma, cutaneous malignant, susceptibility to, 9
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "CMM9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615134]
synonym: "melanoma, cutaneous malignant, 9" EXACT [OMIM:615134, OMIM:genemap2]
synonym: "melanoma, cutaneous malignant, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:615134]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:615134]
synonym: "susceptibility to cutaneous malignant melanoma 9" RELATED [OMIM:615134]
xref: MEDGEN:767488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615134 {source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="OMIM:615134"}
xref: UMLS:C3554574 {source="MEDGEN:767488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:615134"} ! inherited disease susceptibility
is_a: MONDO:0100242 {source="OMIM:615134"} ! glioma susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 ! TERT
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 {source="MONDO:mim2gene_medgen"} ! TERT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014057
name: maple syrup urine disease, mild variant
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18388", source="MONDO:GARD"}
subset: rare
synonym: "maple syrup urine disease, mild variant" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615135]
synonym: "MSUDMV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615135]
xref: GARD:18388 {source="MONDO:GARD"}
xref: MEDGEN:767489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615135 {source="MONDO:equivalentTo"}
xref: Orphanet:268162 {source="OMIM:615135"}
xref: Orphanet:511 {source="OMIM:615135"}
xref: UMLS:C3554575 {source="MEDGEN:767489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009563 {source="MONDO:Redundant", source="OMIM:615135", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease
relationship: excluded_subClassOf MONDO:0017052 {source="Orphanet:268162/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! intermediate maple syrup urine disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25415 {source="MONDO:mim2gene_medgen"} ! PPM1K

[Term]
id: MONDO:0014058
name: facial dysmorphism-immunodeficiency-livedo-short stature syndrome
def: "A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." [https://orcid.org/0000-0001-5208-3432, Orphanet:352712]
subset: gard_rare {source="GARD:17528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352712"}
subset: orphanet_rare {source="Orphanet:352712"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical, OMIM:615139]
synonym: "fils" RELATED [MONDO:Lexical, OMIM:615139]
synonym: "fils syndrome" EXACT [Orphanet:352712]
xref: GARD:17528 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:352712/attributed", source="Orphanet:352712/ntbt", source="Orphanet:352712"}
xref: MEDGEN:767490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615139 {source="Orphanet:352712/e", source="MONDO:equivalentTo", source="Orphanet:352712"}
xref: Orphanet:352712 {source="OMIM:615139", source="MONDO:equivalentTo"}
xref: UMLS:C3554576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767490"}
is_a: MONDO:0003847 {source="OMIM:615139"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9177 {source="MONDO:mim2gene_medgen"} ! POLE

[Term]
id: MONDO:0014059
name: microphthalmia, isolated, with coloboma 9
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15909", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPCB9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615145]
synonym: "microphthalmia, isolated, with coloboma 9" EXACT [MONDO:Lexical, OMIM:615145]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in TENM3" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 9" EXACT [MONDORULE:1, OMIM:615145]
synonym: "microphthalmia, syndromic 15" EXACT [OMIM:615145, OMIM:genemap2]
synonym: "TENM3 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15909 {source="MONDO:GARD"}
xref: MEDGEN:767506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615145 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:615145"}
xref: UMLS:C3554592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767506"}
is_a: MONDO:0000170 {source="MONDO:Redundant", source="OMIM:615145", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma
intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29944 ! TENM3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29944 {source="MONDO:mim2gene_medgen"} ! TENM3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014060
name: progressive retinal dystrophy due to retinol transport defect
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:17529", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352718"}
subset: orphanet_rare {source="Orphanet:352718"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RDCCAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615147]
synonym: "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" RELATED [MONDO:Lexical, OMIM:615147]
synonym: "retinol dystrophy-iris coloboma-comedogenic acne syndrome" EXACT [Orphanet:352718]
xref: GARD:17529 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:352718", source="Orphanet:352718/attributed", source="Orphanet:352718/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:767507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615147 {source="Orphanet:352718", source="MONDO:equivalentTo", source="Orphanet:352718/e"}
xref: Orphanet:352718 {source="OMIM:615147", source="MONDO:equivalentTo"}
xref: UMLS:C3554593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767507"}
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:352718"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9922 {source="MONDO:mim2gene_medgen"} ! RBP4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI

[Term]
id: MONDO:0014061
name: Steel syndrome
def: "A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described." [Orphanet:438117]
subset: gard_rare {source="GARD:17735", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438117"}
subset: orphanet_rare {source="Orphanet:438117"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" EXACT [Orphanet:438117]
synonym: "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature" RELATED [OMIM:615155]
synonym: "steel syndrome" EXACT [MONDO:Lexical, OMIM:615155]
synonym: "STLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615155]
xref: GARD:17735 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:438117", source="Orphanet:438117/attributed", source="Orphanet:438117/ntbt"}
xref: MEDGEN:767508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615155 {source="Orphanet:438117", source="MONDO:equivalentTo", source="Orphanet:438117/e"}
xref: Orphanet:438117 {source="MONDO:equivalentTo"}
xref: UMLS:C3554594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767508"}
is_a: MONDO:0005381 {source="Orphanet:438117", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder
is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: disease_has_feature HP:0004348 {source="Orphanet:438117"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:438117", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22986 {source="MONDO:mim2gene_medgen"} ! COL27A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014062
name: mitochondrial DNA deletion syndrome with progressive myopathy
subset: gard_rare {source="GARD:17518", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352470"}
subset: orphanet_rare {source="Orphanet:352470"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470]
synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470]
synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT [Orphanet:352470]
synonym: "PEOA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615156]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" RELATED [MONDO:Lexical, OMIM:615156]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:615156]
synonym: "progressive external ophthalmoplegia, autosomal dominant 6" RELATED [OMIM:615156]
xref: DOID:0111519 {source="MONDO:equivalentTo"}
xref: GARD:17518 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:352470/attributed", source="Orphanet:352470/ntbt", source="Orphanet:352470"}
xref: MEDGEN:767513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615156 {source="Orphanet:352470/e", source="MONDO:equivalentTo", source="Orphanet:352470"}
xref: Orphanet:352470 {source="MONDO:equivalentTo", source="OMIM:615156"}
xref: UMLS:C3554599 {source="MEDGEN:767513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000090 {source="DC-OMIM:615156", source="OMIM:615156"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0018158 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2939 {source="MONDO:mim2gene_medgen"} ! DNA2

[Term]
id: MONDO:0014063
name: mitochondrial complex III deficiency nuclear type 2
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15910", source="MONDO:GARD"}
subset: rare
synonym: "MC3DN2" EXACT ABBREVIATION [DOID:0060351, MONDO:Lexical, OMIM:615157]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 2" RELATED [OMIM:615157]
synonym: "mitochondrial complex III deficiency caused by mutation in TTC19" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency nuclear type 2" EXACT CLINGEN_LABEL []
synonym: "mitochondrial complex III deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:615157]
synonym: "TTC19 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060351 {source="MONDO:equivalentTo"}
xref: GARD:15910 {source="MONDO:GARD"}
xref: MEDGEN:767519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615157 {source="DOID:0060351", source="MONDO:equivalentTo"}
xref: Orphanet:1460 {source="OMIM:615157"}
xref: UMLS:C3554605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767519"}
is_a: MONDO:0000066 {source="DC-OMIM:615157", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0015448 {source="DOID:0060351", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26006 ! TTC19
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26006 {source="MONDO:mim2gene_medgen"} ! TTC19

[Term]
id: MONDO:0014064
name: mitochondrial complex III deficiency nuclear type 3
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15911", source="MONDO:GARD"}
subset: rare
synonym: "MC3DN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615158]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 3" RELATED [OMIM:615158]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCRB" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:615158]
synonym: "UQCRB mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080112 {source="MONDO:equivalentTo"}
xref: GARD:15911 {source="MONDO:GARD"}
xref: MEDGEN:767520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615158 {source="DOID:0080112", source="MONDO:equivalentTo"}
xref: Orphanet:1460 {source="OMIM:615158"}
xref: UMLS:C3554606 {source="MEDGEN:767520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 {source="DC-OMIM:615158", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0015448 {source="DOID:0080112", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12582 ! UQCRB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12582 {source="MONDO:mim2gene_medgen"} ! UQCRB

[Term]
id: MONDO:0014065
name: mitochondrial complex III deficiency nuclear type 4
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15912", source="MONDO:GARD"}
subset: rare
synonym: "MC3DN4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615159]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 4" RELATED [OMIM:615159]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCRQ" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615159]
synonym: "UQCRQ mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080113 {source="MONDO:equivalentTo"}
xref: GARD:15912 {source="MONDO:GARD"}
xref: MEDGEN:767521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615159 {source="MONDO:equivalentTo", source="DOID:0080113"}
xref: Orphanet:1460 {source="OMIM:615159"}
xref: UMLS:C3554607 {source="MEDGEN:767521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 {source="DC-OMIM:615159", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0015448 {source="DOID:0080113", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29594 ! UQCRQ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29594 {source="MONDO:mim2gene_medgen"} ! UQCRQ

[Term]
id: MONDO:0014066
name: mitochondrial complex III deficiency nuclear type 5
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15913", source="MONDO:GARD"}
subset: rare
synonym: "MC3DN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615160]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 5" RELATED [OMIM:615160]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCRC2" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 5" RELATED [MONDO:Lexical, OMIM:615160]
synonym: "UQCRC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080114 {source="MONDO:equivalentTo"}
xref: GARD:15913 {source="MONDO:GARD"}
xref: MEDGEN:767522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615160 {source="DOID:0080114", source="MONDO:equivalentTo"}
xref: Orphanet:1460 {source="OMIM:615160"}
xref: UMLS:C3554608 {source="MEDGEN:767522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 {source="DC-OMIM:615160", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0015448 {source="DOID:0080114", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12586 ! UQCRC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12586 {source="MONDO:mim2gene_medgen"} ! UQCRC2

[Term]
id: MONDO:0014067
name: short ulna-dysmorphism-hypotonia-intellectual disability syndrome
subset: gard_rare {source="GARD:17548", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357175"}
subset: ordo_malformation_syndrome {source="Orphanet:357175"}
subset: orphanet_rare {source="Orphanet:357175"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, autosomal recessive 35" RELATED [MONDO:Lexical, OMIM:615162]
synonym: "mental retardation, autosomal recessive 35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162]
synonym: "MRT35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162]
xref: DOID:0081201 {source="MONDO:equivalentTo"}
xref: GARD:17548 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:357175/attributed", source="Orphanet:357175/ntbt", source="Orphanet:357175"}
xref: MEDGEN:767523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615162 {source="Orphanet:357175/e", source="MONDO:equivalentTo", source="Orphanet:357175"}
xref: Orphanet:357175 {source="MONDO:equivalentTo", source="OMIM:615162"}
xref: UMLS:C3554609 {source="MEDGEN:767523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:357175"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:357175", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014068
name: cone-rod dystrophy 17
def: "A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26." [DOID:0111023, PMID:22929024]
subset: gard_rare {source="GARD:15914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 17" EXACT [MONDO:Lexical, OMIM:615163]
synonym: "cone-rod dystrophy type 17" EXACT [DOID:0111023, MONDORULE:2]
synonym: "CORD17" EXACT ABBREVIATION [DOID:0111023, MONDO:Lexical, OMIM:615163]
xref: DOID:0111023 {source="MONDO:equivalentTo"}
xref: GARD:15914 {source="MONDO:GARD"}
xref: MEDGEN:767524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615163 {source="MONDO:equivalentTo", source="DOID:0111023"}
xref: UMLS:C3554610 {source="MEDGEN:767524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:615163", source="DOID:0111023"} ! cone-rod dystrophy

[Term]
id: MONDO:0014069
name: syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
subset: gard_rare {source="GARD:17551", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357332"}
subset: ordo_malformation_syndrome {source="Orphanet:357332"}
subset: orphanet_rare {source="Orphanet:357332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome" RELATED [OMIM:615170]
synonym: "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome" EXACT [Orphanet:357332]
synonym: "WAHAB syndrome" RELATED [OMIM:615170]
synonym: "Wahab syndrome" EXACT [Orphanet:357332]
xref: GARD:17551 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:357332/attributed", source="Orphanet:357332/ntbt", source="Orphanet:357332"}
xref: MEDGEN:767525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615170 {source="Orphanet:357332/e", source="MONDO:equivalentTo", source="Orphanet:357332"}
xref: Orphanet:357332 {source="MONDO:equivalentTo", source="OMIM:615170"}
xref: UMLS:C3554611 {source="MEDGEN:767525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019054 {source="Orphanet:357332"} ! congenital limb malformation

[Term]
id: MONDO:0014070
name: oculocutaneous albinism type 7
def: "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." [Orphanet:352745]
subset: gard_rare {source="GARD:17531", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352745"}
subset: orphanet_rare {source="Orphanet:352745"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism, oculocutaneous, type 7" RELATED [OMIM:615179]
synonym: "albinism, oculocutaneous, type VII" RELATED [MONDO:Lexical, OMIM:615179]
synonym: "LRMDA oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OCA7" EXACT ABBREVIATION [DOID:0070100, MONDO:Lexical, OMIM:615179, Orphanet:352745]
synonym: "oculocutaneous albinism caused by mutation in LRMDA" EXACT [MONDO:design_pattern]
synonym: "oculocutaneous albinism type VII" RELATED [DOID:0070100]
xref: DOID:0070100 {source="MONDO:equivalentTo"}
xref: GARD:17531 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:352745/attributed", source="Orphanet:352745/ntbt", source="Orphanet:352745"}
xref: MEDGEN:815116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615179 {source="Orphanet:352745/e", source="DOID:0070100", source="MONDO:equivalentTo", source="Orphanet:352745"}
xref: Orphanet:352745 {source="OMIM:615179", source="MONDO:equivalentTo"}
xref: SCTID:722059002 {source="MONDO:equivalentTo"}
xref: UMLS:C3808786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815116"}
is_a: MONDO:0018910 {source="DC-OMIM:615179", source="DOID:0070100", source="MONDO:Redundant", source="OMIM:615179", source="Orphanet:352745"} ! oculocutaneous albinism
intersection_of: MONDO:0018910 ! oculocutaneous albinism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23405 ! LRMDA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23405 {source="MONDO:mim2gene_medgen"} ! LRMDA

[Term]
id: MONDO:0014071
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15915", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MDDGA11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615181]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" RELATED [OMIM:615181]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615181]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11" EXACT [OMIM:615181, OMIM:genemap2]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2" EXACT [MONDO:design_pattern]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related" RELATED [OMIM:615181]
xref: DOID:0111230 {source="MONDO:equivalentTo"}
xref: GARD:15915 {source="MONDO:GARD"}
xref: MEDGEN:767552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615181 {source="MONDO:equivalentTo"}
xref: Orphanet:588 {source="OMIM:615181"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615181"}
xref: UMLS:C3554638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767552"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615181", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28596 ! B3GALNT2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28596 {source="MONDO:mim2gene_medgen"} ! B3GALNT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014072
name: D,L-2-hydroxyglutaric aciduria
def: "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites." [Orphanet:356978]
subset: gard_rare {source="GARD:17540", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:356978"}
subset: orphanet_rare {source="Orphanet:356978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined D-2- and L-2-hydroxyglutaric aciduria" RELATED [MONDO:Lexical, OMIM:615182]
synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978]
synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT [Orphanet:356978]
synonym: "D,L-2-HGA" EXACT [Orphanet:356978]
synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978]
synonym: "D,L-2-hydroxyglutaric aciduria" EXACT CLINGEN_LABEL []
synonym: "D2L2AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615182]
xref: DOID:0111619 {source="MONDO:equivalentTo"}
xref: GARD:17540 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:356978", source="Orphanet:356978/attributed", source="Orphanet:356978/ntbt"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1802316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615182 {source="MONDO:equivalentTo", source="Orphanet:356978", source="Orphanet:356978/e"}
xref: Orphanet:356978 {source="MONDO:equivalentTo", source="OMIM:615182"}
xref: SCTID:713401006 {source="MONDO:equivalentTo"}
xref: UMLS:C5574940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802316"}
is_a: MONDO:0016001 {source="Orphanet:356978"} ! 2-hydroxyglutaric aciduria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10979 {source="MONDO:mim2gene_medgen"} ! SLC25A1

[Term]
id: MONDO:0014073
name: dilated cardiomyopathy 1II
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15916", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1II" RELATED [MONDO:Lexical, OMIM:615184]
synonym: "cardiomyopathy, dilated, type 1II" EXACT [MONDORULE:6, OMIM:615184]
synonym: "CMD1II" EXACT ABBREVIATION [DOID:0110450, MONDO:Lexical, OMIM:615184]
synonym: "CRYAB familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dilated cardiomyopathy type 1II" EXACT [DOID:0110450, MONDORULE:6]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern]
xref: DOID:0110450 {source="MONDO:equivalentTo"}
xref: GARD:15916 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110450"}
xref: MEDGEN:767563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615184 {source="MONDO:equivalentTo", source="DOID:0110450"}
xref: UMLS:C3554649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767563"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:615184"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB

[Term]
id: MONDO:0014074
name: Charcot-Marie-Tooth disease dominant intermediate F
def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range." [Orphanet:352670]
comment: Not in the OMIM series. {source="OMIM:615185"}
subset: gard_rare {source="GARD:9206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352670"}
subset: orphanet_rare {source="Orphanet:352670"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [DOID:0110206]
synonym: "Charcot-Marie-Tooth disease dominant intermediate type F" EXACT [DOID:0110206, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate F" RELATED [MONDO:Lexical, OMIM:615185]
synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type F" EXACT [MONDORULE:1, OMIM:615185]
synonym: "CMTDIF" EXACT ABBREVIATION [DOID:0110206, MONDO:Lexical, OMIM:615185, Orphanet:352670]
synonym: "DI-CMTF" RELATED [GARD:0009206]
synonym: "GNB4-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009206]
xref: DOID:0110206 {source="MONDO:equivalentTo"}
xref: GARD:9206 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:352670", source="DOID:0110206", source="Orphanet:352670/attributed", source="Orphanet:352670/ntbt"}
xref: MEDGEN:1666273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615185 {source="Orphanet:352670", source="DOID:0110206", source="MONDO:equivalentTo", source="Orphanet:352670/e"}
xref: Orphanet:352670 {source="DOID:0110206", source="MONDO:equivalentTo", source="OMIM:615185"}
xref: UMLS:C4749463 {source="MEDGEN:1666273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019548 {source="Orphanet:352670", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20731 {source="MONDO:mim2gene_medgen"} ! GNB4

[Term]
id: MONDO:0014075
name: cataract 39 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant cataract 39 multiple types" EXACT [DOID:0110236]
synonym: "cataract 39, multiple types" RELATED [MONDO:Lexical, OMIM:615188]
synonym: "cataract 39, multiple types, autosomal dominant" EXACT [OMIM:615188, OMIM:genemap2]
synonym: "CRYGB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CTRCT39" EXACT ABBREVIATION [DOID:0110236, MONDO:Lexical, OMIM:615188]
synonym: "early-onset non-syndromic cataract caused by mutation in CRYGB" EXACT [MONDO:design_pattern]
xref: DOID:0110236 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110236"}
xref: MEDGEN:815130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615188 {source="DOID:0110236", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:615188"}
xref: Orphanet:98988 {source="MONDO:relatedTo", source="OMIM:615188"}
xref: Orphanet:98994 {source="MONDO:directSiblingOf", source="OMIM:615188"}
xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:615188"}
xref: UMLS:C3808800 {source="MEDGEN:815130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110236", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:615188"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2409 ! CRYGB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2409 {source="MONDO:mim2gene_medgen"} ! CRYGB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014076
name: dyskeratosis congenita, autosomal recessive 5
def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33." [DOID:0070020]
subset: gard_rare {source="GARD:15917", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive dyskeratosis congenita 5" RELATED [DOID:0070022]
synonym: "DKCB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615190]
synonym: "dyskeratosis congenita, autosomal dominant 4" RELATED [OMIM:615190]
synonym: "dyskeratosis congenita, autosomal recessive 5" EXACT [MONDO:Lexical, OMIM:615190]
synonym: "dyskeratosis congenita, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:615190]
xref: DOID:0070020 {source="MONDO:relatedTo"}
xref: DOID:0070022 {source="MONDO:equivalentTo"}
xref: GARD:15917 {source="MONDO:GARD"}
xref: MEDGEN:767570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176928 {source="MONDO:equivalentTo"}
xref: OMIM:615190 {source="DOID:0070022", source="MONDO:equivalentTo"}
xref: Orphanet:1775 {source="OMIM:615190"}
xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:615190"}
xref: UMLS:C3554656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767570"}
is_a: MONDO:0015780 {source="DOID:0070022", source="MONDO:Redundant", source="OMIM:615190"} ! dyskeratosis congenita
is_a: MONDO:0800467 {source="PMID:20301779", source="https://clinicalgenome.org/affiliation/40060/"} ! dyskeratosis congenita and related telomere biology disorder
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15888 ! RTEL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15888 {source="MONDO:mim2gene_medgen"} ! RTEL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0014077
name: cobblestone lissencephaly without muscular or ocular involvement
def: "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." [Orphanet:352682]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17526", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352682"}
subset: orphanet_rare {source="Orphanet:352682"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cobblestone lissencephaly without muscular or eye involvement" EXACT [Orphanet:352682]
synonym: "cobblestone lissencephaly without muscular or ocular involvement" EXACT CLINGEN_LABEL []
synonym: "LIS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615191]
synonym: "lissencephaly 5" RELATED [MONDO:Lexical, OMIM:615191]
synonym: "lissencephaly type 2 without muscular or eye involvement" EXACT [Orphanet:352682]
synonym: "lissencephaly type 2 without muscular or ocular involvement" EXACT [Orphanet:352682]
synonym: "lissencephaly type 5" EXACT [MONDORULE:1, OMIM:615191]
xref: DOID:0112230 {source="MONDO:equivalentTo"}
xref: GARD:17526 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:352682/attributed", source="Orphanet:352682/ntbt", source="Orphanet:352682"}
xref: MEDGEN:767571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615191 {source="Orphanet:352682", source="MONDO:equivalentTo", source="Orphanet:352682/e"}
xref: Orphanet:352682 {source="MONDO:equivalentTo", source="OMIM:615191"}
xref: UMLS:C3554657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767571"}
is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:615191", source="Orphanet:352682/inferred"} ! lissencephaly spectrum disorders
is_a: MONDO:0018869 {source="Orphanet:352682"} ! cobblestone lissencephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6486 {source="MONDO:mim2gene_medgen"} ! LAMB1

[Term]
id: MONDO:0014078
name: platelet-type bleeding disorder 15
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18272", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTN1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant macrothrombocytopenia ACTN1-related" EXACT [DOID:0111053]
synonym: "BDPLT15" EXACT ABBREVIATION [DOID:0111053, MONDO:Lexical, OMIM:615193]
synonym: "bleeding disorder, platelet-type, 15" RELATED [MONDO:Lexical, OMIM:615193]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in ACTN1" EXACT [MONDO:design_pattern]
synonym: "macrothrombocytopenia, autosomal dominant, ACTN1-related" RELATED [OMIM:615193]
synonym: "platelet-type bleeding disorder 15" EXACT CLINGEN_LABEL []
xref: DOID:0111053 {source="MONDO:equivalentTo"}
xref: GARD:18272 {source="MONDO:GARD"}
xref: MEDGEN:767577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200665 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615193 {source="MONDO:equivalentTo", source="DOID:0111053"}
xref: Orphanet:140957 {source="OMIM:615193"}
xref: UMLS:C3554663 {source="MEDGEN:767577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="MONDO:Redundant", source="OMIM:615193"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0015372 {source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia
intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/163 ! ACTN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/163 {source="MONDO:mim2gene_medgen"} ! ACTN1

[Term]
id: MONDO:0014079
name: restless legs syndrome, susceptibility to, 8
subset: predisposition
synonym: "restless legs syndrome 8" EXACT [OMIM:615197, OMIM:genemap2]
synonym: "restless legs syndrome, susceptibility to, 8" EXACT [OMIM:615197]
synonym: "RLS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615197]
xref: MEDGEN:767578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615197 {source="MONDO:equivalentTo"}
xref: UMLS:C3554664 {source="MEDGEN:767578", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100170 {source="OMIM:615197"} ! restless legs syndrome, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0005391 {source="DC-OMIM:615197", source="OMIM:615197"} ! restless legs syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0014080
name: osteosclerotic metaphyseal dysplasia
subset: gard_rare {source="GARD:17931", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500548"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:500548"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OSMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615198]
synonym: "osteosclerotic metaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:615198]
xref: DOID:0081111 {source="MONDO:equivalentTo"}
xref: GARD:17931 {source="MONDO:GARD"}
xref: MEDGEN:767579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615198 {source="MONDO:equivalentTo", source="Orphanet:500548"}
xref: Orphanet:500548 {source="MONDO:equivalentTo"}
xref: UMLS:C3554665 {source="MEDGEN:767579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0017198 {source="Orphanet:500548", source="PMID:31633310"} ! osteopetrosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014081
name: severe combined immunodeficiency due to CARD11 deficiency
def: "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections." [Orphanet:357237]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17549", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357237"}
subset: orphanet_rare {source="Orphanet:357237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CARD11 immunodeficiency" RELATED [OMIM:615206]
synonym: "IMD11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615206]
synonym: "IMD11A" RELATED ABBREVIATION [OMIM:615206]
synonym: "immunodeficiency 11" RELATED [MONDO:Lexical, OMIM:615206]
synonym: "immunodeficiency 11A" EXACT [OMIM:615206, OMIM:genemap2]
synonym: "immunodeficiency type 11" EXACT [MONDORULE:2, OMIM:615206]
synonym: "SCID due to CARD11 deficiency" EXACT [Orphanet:357237]
xref: DOID:0111957 {source="MONDO:equivalentTo"}
xref: GARD:17549 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:357237", source="Orphanet:357237/attributed", source="Orphanet:357237/ntbt"}
xref: MEDGEN:767600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615206 {source="Orphanet:357237", source="MONDO:equivalentTo", source="Orphanet:357237/e"}
xref: Orphanet:357237 {source="OMIM:615206", source="MONDO:equivalentTo"}
xref: UMLS:C3554686 {source="MEDGEN:767600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044201 {source="Orphanet:357237"} ! T+ B+ severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16393 {source="MONDO:mim2gene_medgen"} ! CARD11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014082
name: cryptosporidiosis-chronic cholangitis-liver disease syndrome
subset: gard_rare {source="GARD:17550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357329"}
subset: orphanet_rare {source="Orphanet:357329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cryptosporidiosis-chronic cholangitis-liver disease syndrome" EXACT CLINGEN_LABEL []
synonym: "IL21R immunodeficiency" RELATED [OMIM:615207]
synonym: "IMD56" RELATED ABBREVIATION [OMIM:615207]
synonym: "immunodeficiency 56" RELATED [OMIM:615207]
xref: DOID:0111982 {source="MONDO:equivalentTo"}
xref: GARD:17550 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:357329", source="Orphanet:357329/attributed", source="Orphanet:357329/ntbt"}
xref: MEDGEN:767601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615207 {source="MONDO:equivalentTo", source="Orphanet:357329", source="Orphanet:357329/e"}
xref: Orphanet:357329 {source="MONDO:equivalentTo", source="OMIM:615207"}
xref: UMLS:C3554687 {source="MEDGEN:767601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:615207"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:357329", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6006 {source="MONDO:mim2gene_medgen"} ! IL21R

[Term]
id: MONDO:0014083
name: agammaglobulinemia 7, autosomal recessive
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15918", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia 7, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615214]
synonym: "agammaglobulinemia, autosomal recessive, due to PIK3R1 defect" RELATED [OMIM:615214]
synonym: "AGM7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615214]
synonym: "autosomal agammaglobulinemia caused by mutation in PIK3R1" EXACT [MONDO:design_pattern]
synonym: "PIK3R1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081139 {source="MONDO:equivalentTo"}
xref: GARD:15918 {source="MONDO:GARD"}
xref: MEDGEN:767603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615214 {source="MONDO:equivalentTo"}
xref: Orphanet:229717 {source="OMIM:615214"}
xref: Orphanet:33110 {source="OMIM:615214"}
xref: UMLS:C3554689 {source="MONDO:equivalentTo", source="MEDGEN:767603", source="MONDO:MEDGEN"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia
is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:615214"} ! agammaglobulinemia
intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8979 ! PIK3R1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8979 {source="MONDO:mim2gene_medgen"} ! PIK3R1

[Term]
id: MONDO:0014084
name: ataxia with oculomotor apraxia type 3
subset: gard_rare {source="GARD:13112", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AOA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615217]
synonym: "ataxia-oculomotor apraxia 3" EXACT [DOID:0060557, MONDO:Lexical, OMIM:615217]
synonym: "ataxia-oculomotor apraxia type 3" EXACT [MONDORULE:1, OMIM:615217]
synonym: "ataxia-oculomotor apraxia-3" RELATED [GARD:0013112]
xref: DOID:0060557 {source="MONDO:equivalentTo"}
xref: GARD:13112 {source="MONDO:GARD"}
xref: MEDGEN:767604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615217 {source="MONDO:equivalentTo", source="DOID:0060557"}
xref: UMLS:C3554690 {source="MEDGEN:767604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="DOID:0050950", source="https://github.com/monarch-initiative/mondo/issues/48"} ! autosomal recessive cerebellar ataxia
relationship: excluded_subClassOf MONDO:0018996 {source="Orphanet:64753/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30035 {source="MONDO:mim2gene_medgen"} ! PIK3R5

[Term]
id: MONDO:0014085
name: hydrocephalus, nonsyndromic, autosomal recessive 2
def: "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital hydrocephalus caused by mutation in MPDZ" EXACT [MONDO:design_pattern]
synonym: "HYC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615219]
synonym: "hydrocephalus, congenital, 2, with or without brain or eye anomalies" EXACT [OMIM:615219, OMIM:genemap2]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615219]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615219]
synonym: "MPDZ congenital hydrocephalus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:767605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615219 {source="MONDO:equivalentTo"}
xref: Orphanet:2185 {source="OMIM:615219"}
xref: UMLS:C3554691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767605"}
is_a: MONDO:0016349 {source="MONDO:Redundant", source="Orphanet:2185/btnt"} ! congenital hydrocephalus
intersection_of: MONDO:0016349 ! congenital hydrocephalus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7208 ! MPDZ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7208 {source="MONDO:mim2gene_medgen"} ! MPDZ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014086
name: osteogenesis imperfecta type 15
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI, type 15" RELATED [OMIM:615220]
synonym: "OI15" EXACT ABBREVIATION [DOID:0110347, MONDO:Lexical, OMIM:615220]
synonym: "osteogenesis imperfecta caused by mutation in WNT1" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XV" EXACT [DOID:0110347]
synonym: "osteogenesis imperfecta, type 15" RELATED [OMIM:615220]
synonym: "osteogenesis imperfecta, type XV" RELATED [MONDO:Lexical, OMIM:615220]
synonym: "WNT1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110347 {source="MONDO:equivalentTo"}
xref: GARD:15919 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110347"}
xref: MEDGEN:815174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615220 {source="DOID:0110347", source="MONDO:equivalentTo"}
xref: Orphanet:216812 {source="OMIM:615220", source="MONDO:directSiblingOf"}
xref: Orphanet:216820 {source="OMIM:615220", source="MONDO:directSiblingOf"}
xref: Orphanet:666 {source="OMIM:615220"}
xref: UMLS:C3808844 {source="MEDGEN:815174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:615220", source="DOID:0110347", source="MONDO:Redundant", source="OMIM:615220"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12774 ! WNT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12774 {source="MONDO:mim2gene_medgen"} ! WNT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014087
name: Smith-McCort dysplasia 2
def: "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15921", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RAB33B Smith-McCort dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Smc2" RELATED [MONDO:Lexical, OMIM:615222]
synonym: "SMITH-McCort dysplasia 2" RELATED [OMIM:615222]
synonym: "Smith-McCort dysplasia 2" EXACT [MONDO:Lexical, OMIM:615222]
synonym: "Smith-McCort dysplasia caused by mutation in RAB33B" EXACT [MONDO:design_pattern]
synonym: "Smith-McCort dysplasia type 2" EXACT [MONDORULE:1, OMIM:615222]
xref: DOID:0081271 {source="MONDO:equivalentTo"}
xref: GARD:15921 {source="MONDO:GARD"}
xref: MEDGEN:811489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615222 {source="MONDO:equivalentTo"}
xref: Orphanet:178355 {source="OMIM:615222"}
xref: UMLS:C3714896 {source="MEDGEN:811489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015799 {source="DC-OMIM:615222", source="MONDO:Redundant", source="OMIM:615222"} ! Smith-McCort dysplasia
is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia
intersection_of: MONDO:0015799 ! Smith-McCort dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16075 ! RAB33B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16075 {source="MONDO:mim2gene_medgen"} ! RAB33B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014088
name: advanced sleep phase syndrome 2
def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "advanced sleep phase syndrome caused by mutation in CSNK1D" EXACT [MONDO:design_pattern]
synonym: "advanced sleep phase syndrome type 2" EXACT [DOID:0110012, MONDORULE:1]
synonym: "advanced sleep phase syndrome, familial, 2" RELATED [MONDO:Lexical, OMIM:615224]
synonym: "advanced sleep phase syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615224]
synonym: "advanced sleep-phase syndrome, familial, 2" EXACT [OMIM:615224, OMIM:genemap2]
synonym: "CSNK1D advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial advanced sleep phase syndrome 2" EXACT [DOID:0110012]
synonym: "FASPS2" EXACT ABBREVIATION [DOID:0110012, MONDO:Lexical, OMIM:615224]
xref: DOID:0110012 {source="MONDO:equivalentTo"}
xref: GARD:15922 {source="MONDO:GARD"}
xref: MEDGEN:815204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615224 {source="MONDO:equivalentTo", source="DOID:0110012"}
xref: Orphanet:164736 {source="OMIM:615224"}
xref: UMLS:C3808874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815204"}
is_a: MONDO:0015609 {source="DC-OMIM:615224", source="DOID:0110012", source="MONDO:Redundant", source="OMIM:615224"} ! advanced sleep phase syndrome
intersection_of: MONDO:0015609 ! advanced sleep phase syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2452 ! CSNK1D
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2452 {source="MONDO:mim2gene_medgen"} ! CSNK1D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014089
name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
subset: gard_rare {source="GARD:17525", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352662"}
subset: orphanet_rare {source="Orphanet:352662"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CIDED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615225]
synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia" RELATED [MONDO:Lexical, OMIM:615225]
synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly" RELATED [OMIM:615225]
synonym: "MSPC" EXACT ABBREVIATION [OMIM:616964]
synonym: "palmoplantar carcinoma, multiple self-healing" EXACT [OMIM:616964]
synonym: "palmoplantar carcinoma, multiple self-healing; MSPC" EXACT []
xref: GARD:17525 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:352662/attributed", source="Orphanet:352662/ntbt", source="Orphanet:352662"}
xref: MEDGEN:815206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615225 {source="Orphanet:352662", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:352662/e"}
xref: OMIM:616964 {source="MONDO:equivalentObsolete"}
xref: Orphanet:352662 {source="OMIM:615225", source="MONDO:equivalentTo"}
xref: UMLS:C3808876 {source="MEDGEN:815206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0020212 {source="Orphanet:352662"} ! superficial corneal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14374 {source="MONDO:mim2gene_medgen"} ! NLRP1

[Term]
id: MONDO:0014090
name: polydactyly, postaxial, type A6
subset: gard_rare {source="GARD:18176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PAPA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615226]
synonym: "polydactyly, postaxial, type A6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615226]
xref: GARD:18176 {source="MONDO:GARD"}
xref: MEDGEN:815219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615226 {source="MONDO:equivalentTo"}
xref: Orphanet:93334 {source="OMIM:615226"}
xref: UMLS:C3808889 {source="MEDGEN:815219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019673 {source="Orphanet:93334/btnt"} ! postaxial polydactyly type A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12926 {source="MONDO:mim2gene_medgen"} ! ZNF141

[Term]
id: MONDO:0014091
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
def: "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18667", source="MONDO:GARD"}
subset: rare
synonym: "ATP5F1A mitochondrial complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MC5DN4B" EXACT ABBREVIATION [DOID:0060333, MONDO:Lexical, OMIM:615228]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type" RELATED [OMIM:615228]
synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4" RELATED [OMIM:615228]
synonym: "mitochondrial complex deficiency caused by mutation in ATP5F1A" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615228]
xref: DOID:0070462 {source="MONDO:equivalentTo"}
xref: GARD:18667 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="DOID:0060333"}
xref: MEDGEN:815229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615228 {source="DOID:0060333", source="MONDO:equivalentTo"}
xref: Orphanet:254913 {source="OMIM:615228", source="DOID:0060333"}
xref: UMLS:C3808899 {source="MEDGEN:815229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 {source="DC-OMIM:615228", source="MONDO:Redundant"} ! mitochondrial complex deficiency
is_a: MONDO:0014471 {source="DOID:0060333", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency
intersection_of: MONDO:0000066 ! mitochondrial complex deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/823 ! ATP5F1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/823 {source="MONDO:mim2gene_medgen"} ! ATP5F1A

[Term]
id: MONDO:0014092
name: schizophrenia 18
def: "A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2." [DOID:0070093]
synonym: "chromosome 7q36.3 Duplication syndrome, 362-Kb" EXACT [DOID:0070093]
synonym: "schizoaffective disorder" RELATED [OMIM:615232]
synonym: "schizophrenia 18" EXACT [MONDO:Lexical, OMIM:615232]
synonym: "schizophrenia 18 with or without an affective disorder" RELATED [OMIM:615232]
synonym: "schizophrenia susceptibility 18" EXACT [OMIM:615232, OMIM:genemap2]
synonym: "schizophrenia type 18" EXACT [MONDORULE:2, OMIM:615232]
synonym: "SCZD18" EXACT ABBREVIATION [DOID:0070093, MONDO:Lexical, OMIM:615232]
xref: DOID:0070093 {source="MONDO:equivalentTo"}
xref: MEDGEN:815243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615232 {source="MONDO:equivalentTo", source="DOID:0070093"}
xref: UMLS:C3808913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815243"}
is_a: MONDO:0100182 {source="OMIM:615232", source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia, susceptibility to
intersection_of: MONDO:0100182 ! schizophrenia, susceptibility to
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10939 ! SLC1A1
relationship: excluded_subClassOf MONDO:0005090 {source="DOID:0070093", source="OMIM:615232", source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10939 {source="MONDO:mim2gene_medgen"} ! SLC1A1
relationship: predisposes_towards MONDO:0005090 {source="OMIM:615232"} ! schizophrenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0014093
name: retinitis pigmentosa 66
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15923", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RBP3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 66" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615233]
synonym: "retinitis pigmentosa caused by mutation in RBP3" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 66" EXACT [DOID:0110393, MONDORULE:2, OMIM:615233]
synonym: "RP66" EXACT ABBREVIATION [DOID:0110393, MONDO:Lexical, OMIM:615233]
xref: DOID:0110393 {source="MONDO:equivalentTo"}
xref: GARD:15923 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110393"}
xref: MEDGEN:811638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615233 {source="MONDO:equivalentTo", source="DOID:0110393"}
xref: Orphanet:791 {source="OMIM:615233"}
xref: UMLS:C3715216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811638"}
is_a: MONDO:0019200 {source="DC-OMIM:615233", source="DOID:0110393", source="MONDO:Redundant", source="OMIM:615233"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9921 ! RBP3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9921 {source="MONDO:mim2gene_medgen"} ! RBP3

[Term]
id: MONDO:0014094
name: severe congenital hypochromic anemia with ringed sideroblasts
def: "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels." [Orphanet:300298]
subset: gard_rare {source="GARD:17364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300298"}
subset: orphanet_rare {source="Orphanet:300298"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AHMIO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615234]
synonym: "anemia, hypochromic microcytic, with iron overload 2" RELATED [MONDO:Lexical, OMIM:615234]
synonym: "anemia, hypochromic microcytic, with iron overload type 2" EXACT [MONDORULE:1, OMIM:615234]
synonym: "severe congenital hypochromic sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "severe congenital hypochromic sideroblastic anemia" EXACT [Orphanet:300298]
xref: GARD:17364 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:300298", source="Orphanet:300298/attributed", source="Orphanet:300298/ntbt"}
xref: MEDGEN:815250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615234 {source="Orphanet:300298", source="MONDO:equivalentTo", source="Orphanet:300298/e"}
xref: Orphanet:300298 {source="OMIM:615234", source="MONDO:equivalentTo"}
xref: SCTID:725463007 {source="MONDO:equivalentTo"}
xref: UMLS:C3808920 {source="MONDO:equivalentTo", source="MEDGEN:815250", source="MONDO:MEDGEN"}
is_a: MONDO:0000104 {source="DC-OMIM:615234", source="OMIM:615234"} ! anemia, hypochromic microcytic with iron overload
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0020099 {source="Orphanet:300298"} ! inherited sideroblastic anemia
relationship: disease_arises_from_feature HP:0011031 ! Abnormality of iron homeostasis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24592 {source="MONDO:mim2gene_medgen"} ! STEAP3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014095
name: dilated cardiomyopathy 1JJ
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15924", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1JJ" RELATED [MONDO:Lexical, OMIM:615235]
synonym: "cardiomyopathy, dilated, type 1Jj" EXACT [MONDORULE:9, OMIM:615235]
synonym: "CMD1JJ" EXACT ABBREVIATION [DOID:0110438, MONDO:Lexical, OMIM:615235]
synonym: "dilated cardiomyopathy type 1JJ" EXACT [DOID:0110438, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in LAMA4" EXACT [MONDO:design_pattern]
synonym: "LAMA4 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110438 {source="MONDO:equivalentTo"}
xref: GARD:15924 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110438"}
xref: MEDGEN:815265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615235 {source="DOID:0110438", source="MONDO:equivalentTo"}
xref: UMLS:C3808935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815265"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:615235"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6484 {source="MONDO:mim2gene_medgen"} ! LAMA4

[Term]
id: MONDO:0014096
name: microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
def: "This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." [Orphanet:137658]
subset: gard_rare {source="GARD:3498", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:137658"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "WOODS syndrome" RELATED [OMIM:615236]
synonym: "Woods-Crouchman-Huson syndrome" EXACT [Orphanet:137658]
xref: GARD:3498 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:137658", source="Orphanet:137658/attributed", source="Orphanet:137658/ntbt"}
xref: MEDGEN:490089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615236 {source="MONDO:equivalentTo", source="Orphanet:137658", source="Orphanet:137658/e"}
xref: Orphanet:137658 {source="OMIM:615236", source="MONDO:equivalentObsolete"}
xref: SCTID:719396000 {source="MONDO:equivalentTo"}
xref: UMLS:C0796203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:490089"}
is_a: MONDO:0015159 {source="Orphanet:137658"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3498/microcephaly-intellectual-disability-phalangeal-and-neurological-anomalies-syndrome" xsd:anyURI {source="GARD:0003498"}

[Term]
id: MONDO:0014097
name: congenital short bowel syndrome
def: "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." [Orphanet:2301]
subset: gard_rare {source="GARD:16592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2301"}
subset: ordo_morphological_anomaly {source="Orphanet:2301"}
subset: orphanet_rare {source="Orphanet:2301"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital short bowel syndrome" EXACT [MONDO:Lexical, OMIM:615237]
synonym: "CSBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615237]
xref: GARD:16592 {source="MONDO:GARD"}
xref: ICD10CM:Q43.8 {source="Orphanet:2301/attributed", source="Orphanet:2301/ntbt", source="Orphanet:2301"}
xref: icd11.foundation:1672462112 {source="Orphanet:2301", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1784105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2301 {source="OMIM:615237", source="MONDO:equivalentTo"}
xref: SCTID:715201005 {source="MONDO:equivalentTo"}
xref: UMLS:C5441717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784105"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
is_a: MONDO:0024635 {source="PMID:18209785", source="https://orcid.org/0000-0002-3458-4839"} ! small intestine disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0014098
name: CIDEC-related familial partial lipodystrophy
subset: gard_rare {source="GARD:13125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435651"}
subset: orphanet_rare {source="Orphanet:435651"}
subset: rare
synonym: "CIDEC-related familial partial lipodystrophy" EXACT CLINGEN_LABEL []
synonym: "CIDEC-related FPLD" EXACT [Orphanet:435651]
synonym: "FPLD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615238, Orphanet:435651]
synonym: "lipodystrophy, familial partial, associated with Cidec mutations" RELATED [OMIM:615238]
synonym: "lipodystrophy, familial partial, type 5" RELATED [MONDO:Lexical, OMIM:615238]
xref: DOID:0070203 {source="MONDO:equivalentTo"}
xref: GARD:13125 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:435651/attributed", source="Orphanet:435651/ntbt", source="Orphanet:435651"}
xref: MEDGEN:815270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615238 {source="Orphanet:435651/e", source="MONDO:equivalentTo", source="Orphanet:435651"}
xref: Orphanet:435651 {source="MONDO:equivalentTo"}
xref: UMLS:C3808940 {source="MEDGEN:815270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020088 {source="DC-OMIM:615238", source="OMIM:615238", source="Orphanet:435651"} ! familial partial lipodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24229 {source="MONDO:mim2gene_medgen"} ! CIDEC

[Term]
id: MONDO:0014099
name: nephrotic syndrome, type 8
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15925", source="MONDO:GARD"}
subset: rare
synonym: "ARHGDIA nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in ARHGDIA" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 8" EXACT [MONDO:Lexical, OMIM:615244]
synonym: "NPHS8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615244]
xref: DOID:0080389 {source="MONDO:equivalentTo"}
xref: GARD:15925 {source="MONDO:GARD"}
xref: MEDGEN:815283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615244 {source="MONDO:equivalentTo"}
xref: Orphanet:656 {source="OMIM:615244"}
xref: UMLS:C3808953 {source="MONDO:equivalentTo", source="MEDGEN:815283", source="MONDO:MEDGEN"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:615244"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:615244"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/678 ! ARHGDIA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/678 {source="MONDO:mim2gene_medgen"} ! ARHGDIA

[Term]
id: MONDO:0014100
name: dilated cardiomyopathy 1KK
def: "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15926", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1KK" RELATED [MONDO:Lexical, OMIM:615248]
synonym: "cardiomyopathy, dilated, type 1Kk" EXACT [MONDORULE:9, OMIM:615248]
synonym: "cardiomyopathy, familial hypertrophic, 22" RELATED [OMIM:615248]
synonym: "cardiomyopathy, familial restrictive, 4" RELATED [OMIM:615248]
synonym: "cardiomyopathy, hypertrophic, 22" EXACT [OMIM:615248, OMIM:genemap2]
synonym: "CMD1KK" EXACT ABBREVIATION [DOID:0110445, MONDO:Lexical, OMIM:615248]
synonym: "dilated cardiomyopathy caused by mutation in MYPN" EXACT [MONDO:design_pattern]
synonym: "dilated cardiomyopathy type 1KK" EXACT [DOID:0110445, MONDORULE:9]
synonym: "MYPN dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110445 {source="MONDO:equivalentTo"}
xref: GARD:15926 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110445"}
xref: MEDGEN:811544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615248 {source="DOID:0110445", source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:615248", source="MONDO:relatedTo"}
xref: Orphanet:155 {source="OMIM:615248"}
xref: Orphanet:75249 {source="OMIM:615248", source="MONDO:relatedTo"}
xref: UMLS:C3714995 {source="MEDGEN:811544", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005021 {source="DC-OMIM:615248", source="DOID:0110445", source="MONDO:Entailed", source="MONDO:Redundant"} ! dilated cardiomyopathy
is_a: MONDO:0005045 {source="DC-OMIM:615248"} ! hypertrophic cardiomyopathy
is_a: MONDO:0005201 {source="DC-OMIM:615248"} ! restrictive cardiomyopathy
intersection_of: MONDO:0005021 ! dilated cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 ! MYPN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 {source="MONDO:mim2gene_medgen"} ! MYPN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014101
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615249]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" RELATED [OMIM:615249]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" EXACT [MONDO:Lexical, OMIM:615249]
synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK" EXACT [MONDO:design_pattern]
synonym: "POMK muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related" RELATED [OMIM:615249]
xref: DOID:0111235 {source="MONDO:equivalentTo"}
xref: GARD:15927 {source="MONDO:GARD"}
xref: MEDGEN:815294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615249 {source="MONDO:equivalentTo"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615249"}
xref: UMLS:C3808964 {source="MONDO:equivalentTo", source="MEDGEN:815294", source="MONDO:MEDGEN"}
is_a: MONDO:0000171 {source="MONDO:Redundant", source="OMIM:615249", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
intersection_of: MONDO:0000171 ! muscular dystrophy-dystroglycanopathy, type A
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26267 ! POMK
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26267 {source="MONDO:mim2gene_medgen"} ! POMK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014102
name: hypogonadotropic hypogonadism 17 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15928", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HH17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615266]
synonym: "hypogonadotropic hypogonadism 17 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615266]
synonym: "hypogonadotropic hypogonadism caused by mutation in SPRY4" EXACT [MONDO:design_pattern]
synonym: "SPRY4 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090079 {source="MONDO:equivalentTo"}
xref: GARD:15928 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090079"}
xref: MEDGEN:815301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615266 {source="MONDO:equivalentTo", source="DOID:0090079"}
xref: Orphanet:478 {source="OMIM:615266"}
xref: UMLS:C3808971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815301"}
is_a: MONDO:0018555 {source="DOID:0090079", source="MONDO:Redundant", source="OMIM:615266"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15533 ! SPRY4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15533 {source="MONDO:mim2gene_medgen"} ! SPRY4

[Term]
id: MONDO:0014103
name: hypogonadotropic hypogonadism 18 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15929", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HH18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615267]
synonym: "hypogonadotropic hypogonadism 18 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615267]
synonym: "hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant" EXACT [OMIM:615267, OMIM:genemap2]
synonym: "hypogonadotropic hypogonadism caused by mutation in IL17RD" EXACT [MONDO:design_pattern]
synonym: "IL17RD hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090076 {source="MONDO:equivalentTo"}
xref: GARD:15929 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="DOID:0090076", source="MONDO:relatedTo"}
xref: MEDGEN:815305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615267 {source="DOID:0090076", source="MONDO:equivalentTo"}
xref: Orphanet:478 {source="OMIM:615267"}
xref: UMLS:C3808975 {source="MEDGEN:815305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090076", source="MONDO:Redundant", source="OMIM:615267"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17616 ! IL17RD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17616 {source="MONDO:mim2gene_medgen"} ! IL17RD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014104
name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15930", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ATP8A2 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CAMRQ4" RELATED DEPRECATED [MONDO:Lexical, OMIM:615268]
synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4" RELATED [OMIM:615268]
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" RELATED DEPRECATED [OMIM:615268]
synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4" EXACT [MONDO:Lexical, OMIM:615268]
synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4" EXACT [MONDORULE:1, OMIM:615268]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" EXACT DEPRECATED [MONDO:Lexical, OMIM:615268]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:615268]
synonym: "dysequilibrium syndrome caused by mutation in ATP8A2" EXACT [MONDO:design_pattern]
xref: GARD:15930 {source="MONDO:GARD"}
xref: MEDGEN:815307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615268 {source="MONDO:equivalentTo"}
xref: Orphanet:1766 {source="OMIM:615268"}
xref: UMLS:C3808977 {source="MEDGEN:815307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:615268", source="Orphanet:1766/btnt"} ! cerebellar ataxia, intellectual disability, and dysequilibrium
intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13533 ! ATP8A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13533 {source="MONDO:mim2gene_medgen"} ! ATP8A2

[Term]
id: MONDO:0014105
name: hypogonadotropic hypogonadism 19 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15931", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DUSP6 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615269]
synonym: "hypogonadotropic hypogonadism 19 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615269]
synonym: "hypogonadotropic hypogonadism caused by mutation in DUSP6" EXACT [MONDO:design_pattern]
xref: DOID:0090090 {source="MONDO:equivalentTo"}
xref: GARD:15931 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090090"}
xref: MEDGEN:815311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615269 {source="MONDO:equivalentTo", source="DOID:0090090"}
xref: UMLS:C3808981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815311"}
is_a: MONDO:0018555 {source="DOID:0090090", source="MONDO:Redundant", source="OMIM:615269"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3072 ! DUSP6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3072 {source="MONDO:mim2gene_medgen"} ! DUSP6

[Term]
id: MONDO:0014106
name: hypogonadotropic hypogonadism 20 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15932", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FGF17 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615270]
synonym: "hypogonadotropic hypogonadism 20 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615270]
synonym: "hypogonadotropic hypogonadism caused by mutation in FGF17" EXACT [MONDO:design_pattern]
xref: DOID:0090082 {source="MONDO:equivalentTo"}
xref: GARD:15932 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090082"}
xref: MEDGEN:815313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615270 {source="MONDO:equivalentTo", source="DOID:0090082"}
xref: UMLS:C3808983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815313"}
is_a: MONDO:0018555 {source="DOID:0090082", source="MONDO:Redundant", source="OMIM:615270"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3673 ! FGF17
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3673 {source="MONDO:mim2gene_medgen"} ! FGF17

[Term]
id: MONDO:0014107
name: hypogonadotropic hypogonadism 21 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15933", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FLRT3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615271]
synonym: "hypogonadotropic hypogonadism 21 with anosmia" EXACT [OMIM:615271, OMIM:genemap2]
synonym: "hypogonadotropic hypogonadism 21 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615271]
synonym: "hypogonadotropic hypogonadism caused by mutation in FLRT3" EXACT [MONDO:design_pattern]
xref: DOID:0090093 {source="MONDO:equivalentTo"}
xref: GARD:15933 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090093"}
xref: MEDGEN:815316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615271 {source="MONDO:equivalentTo", source="DOID:0090093"}
xref: Orphanet:478 {source="OMIM:615271"}
xref: UMLS:C3808986 {source="MEDGEN:815316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090093", source="MONDO:Redundant", source="OMIM:615271"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3762 ! FLRT3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3762 {source="MONDO:mim2gene_medgen"} ! FLRT3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014108
name: Fanconi anemia complementation group Q
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15934", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ERCC4 Fanconi anaemia" EXACT OMO:0003005 []
synonym: "ERCC4 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anaemia caused by mutation in ERCC4" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type Q" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in ERCC4" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type Q" EXACT [DOID:0111093, MONDORULE:1]
synonym: "Fanconi anemia, complementation group Q" RELATED [MONDO:Lexical, OMIM:615272]
synonym: "Fanconi Anemia, complementation group type Q" EXACT [MONDORULE:1, OMIM:615272]
synonym: "FANCQ" EXACT ABBREVIATION [DOID:0111093, MONDO:Lexical, OMIM:615272]
xref: DOID:0111093 {source="MONDO:equivalentTo"}
xref: GARD:15934 {source="MONDO:GARD"}
xref: MEDGEN:815318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615272 {source="DOID:0111093", source="MONDO:equivalentTo"}
xref: UMLS:C3808988 {source="MEDGEN:815318", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:615272", source="DOID:0111093", source="MONDO:Redundant", source="OMIM:615272"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 ! ERCC4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3436 {source="MONDO:mim2gene_medgen"} ! ERCC4

[Term]
id: MONDO:0014109
name: obsolete NGLY1-deficiency
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800044

[Term]
id: MONDO:0014110
name: cataract 15 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 15, multiple types" RELATED [MONDO:Lexical, OMIM:615274]
synonym: "CTRCT15" EXACT ABBREVIATION [DOID:0110251, MONDO:Lexical, OMIM:615274]
synonym: "early-onset non-syndromic cataract caused by mutation in MIP" EXACT [MONDO:design_pattern]
synonym: "MIP early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110251 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110251"}
xref: MEDGEN:815331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615274 {source="MONDO:equivalentTo", source="DOID:0110251"}
xref: Orphanet:217052 {source="OMIM:615274"}
xref: Orphanet:91492 {source="OMIM:615274"}
xref: Orphanet:98985 {source="MONDO:relatedTo", source="OMIM:615274"}
xref: Orphanet:98989 {source="MONDO:relatedTo", source="OMIM:615274"}
xref: Orphanet:98991 {source="MONDO:relatedTo", source="OMIM:615274"}
xref: Orphanet:98994 {source="MONDO:directSiblingOf", source="OMIM:615274"}
xref: Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:615274"}
xref: UMLS:C3809001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815331"}
is_a: MONDO:0005129 {source="DOID:0110251", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:615274"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7103 ! MIP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7103 {source="MONDO:mim2gene_medgen"} ! MIP

[Term]
id: MONDO:0014111
name: cataract 19 multiple types
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 19" RELATED [MONDO:Lexical, OMIM:615277]
synonym: "cataract 19, multiple types" RELATED [OMIM:615277]
synonym: "cataract type 19" EXACT [MONDORULE:2, OMIM:615277]
synonym: "CTRCT19" EXACT ABBREVIATION [DOID:0110263, MONDO:Lexical, OMIM:615277]
synonym: "early-onset non-syndromic cataract caused by mutation in LIM2" EXACT [MONDO:design_pattern]
synonym: "LIM2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110263 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110263"}
xref: MEDGEN:815334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615277 {source="MONDO:equivalentTo", source="DOID:0110263"}
xref: Orphanet:91492 {source="OMIM:615277"}
xref: Orphanet:98984 {source="MONDO:directSiblingOf", source="OMIM:615277"}
xref: UMLS:C3809004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815334"}
is_a: MONDO:0005129 {source="DOID:0110263", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:615277"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6610 ! LIM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6610 {source="MONDO:mim2gene_medgen"} ! LIM2

[Term]
id: MONDO:0014112
name: cardiofaciocutaneous syndrome 2
def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15935", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiofaciocutaneous syndrome 2" EXACT [MONDO:Lexical, OMIM:615278]
synonym: "cardiofaciocutaneous syndrome caused by mutation in KRAS" EXACT []
synonym: "cardiofaciocutaneous syndrome caused by mutation in kras" EXACT [MONDO:design_pattern]
synonym: "cardiofaciocutaneous syndrome type 2" EXACT [MONDORULE:1, OMIM:615278]
synonym: "CFC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615278]
synonym: "KRAS cardiofaciocutaneous syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "kras cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern]
xref: DOID:0111461 {source="MONDO:equivalentTo"}
xref: GARD:15935 {source="MONDO:GARD"}
xref: MEDGEN:815335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615278 {source="MONDO:equivalentTo"}
xref: Orphanet:1340 {source="OMIM:615278"}
xref: UMLS:C3809005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815335"}
is_a: MONDO:0015280 {source="DC-OMIM:615278", source="MONDO:Redundant", source="OMIM:615278"} ! cardiofaciocutaneous syndrome
intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 ! KRAS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 {source="MONDO:mim2gene_medgen"} ! KRAS

[Term]
id: MONDO:0014113
name: cardiofaciocutaneous syndrome 3
def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15936", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiofaciocutaneous syndrome 3" EXACT [MONDO:Lexical, OMIM:615279]
synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K1" EXACT [MONDO:design_pattern]
synonym: "cardiofaciocutaneous syndrome type 3" EXACT [MONDORULE:1, OMIM:615279]
synonym: "CFC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615279]
synonym: "MAP2K1 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111462 {source="MONDO:equivalentTo"}
xref: GARD:15936 {source="MONDO:GARD"}
xref: MEDGEN:815336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615279 {source="MONDO:equivalentTo"}
xref: Orphanet:1340 {source="OMIM:615279"}
xref: UMLS:C3809006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815336"}
is_a: MONDO:0015280 {source="DC-OMIM:615279", source="MONDO:Redundant", source="OMIM:615279"} ! cardiofaciocutaneous syndrome
intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6840 ! MAP2K1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6840 {source="MONDO:mim2gene_medgen"} ! MAP2K1

[Term]
id: MONDO:0014114
name: cardiofaciocutaneous syndrome 4
def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15937", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiofaciocutaneous syndrome 4" EXACT [MONDO:Lexical, OMIM:615280]
synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K2" EXACT [MONDO:design_pattern]
synonym: "cardiofaciocutaneous syndrome type 4" EXACT [MONDORULE:1, OMIM:615280]
synonym: "CFC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615280]
synonym: "MAP2K2 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111463 {source="MONDO:equivalentTo"}
xref: GARD:15937 {source="MONDO:GARD"}
xref: MEDGEN:815337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615280 {source="MONDO:equivalentTo"}
xref: Orphanet:1340 {source="OMIM:615280"}
xref: UMLS:C3809007 {source="MEDGEN:815337", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015280 {source="DC-OMIM:615280", source="MONDO:Redundant", source="OMIM:615280"} ! cardiofaciocutaneous syndrome
intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6842 ! MAP2K2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6842 {source="MONDO:mim2gene_medgen"} ! MAP2K2

[Term]
id: MONDO:0014115
name: hypomyelination with brain stem and spinal cord involvement and leg spasticity
subset: gard_rare {source="GARD:17554", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363412"}
subset: orphanet_rare {source="Orphanet:363412"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aspartyl-tRNA synthetase deficiency" RELATED [OMIM:615281]
synonym: "HBSL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615281, Orphanet:363412]
synonym: "hypomyelination with brainstem and spinal cord involvement and leg spasticity" RELATED [MONDO:Lexical, OMIM:615281]
xref: GARD:17554 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:363412", source="Orphanet:363412/attributed", source="Orphanet:363412/ntbt"}
xref: MEDGEN:1667792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615281 {source="MONDO:equivalentTo", source="Orphanet:363412", source="Orphanet:363412/e"}
xref: Orphanet:363412 {source="MONDO:equivalentTo", source="OMIM:615281"}
xref: UMLS:C4755254 {source="MEDGEN:1667792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="Orphanet:363412"} ! leukodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2678 {source="MONDO:mim2gene_medgen"} ! DARS1

[Term]
id: MONDO:0014116
name: complex cortical dysplasia with other brain malformations 2
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "CDCBM2" EXACT ABBREVIATION [DOID:0090133, MONDO:Lexical, OMIM:615282]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in KIF5C" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 2" EXACT [DOID:0090133, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 2" RELATED [MONDO:Lexical, OMIM:615282]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 2" EXACT [MONDORULE:1, OMIM:615282]
synonym: "KIF5C complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090133 {source="MONDO:equivalentTo"}
xref: MEDGEN:815343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615282 {source="DOID:0090133", source="MONDO:equivalentTo"}
xref: UMLS:C3809013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815343"}
is_a: MONDO:0000904 {source="DOID:0090133", source="MONDO:Redundant", source="OMIM:615282"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6325 ! KIF5C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6325 {source="MONDO:mim2gene_medgen"} ! KIF5C

[Term]
id: MONDO:0014117
name: Charcot-Marie-Tooth disease type 4B3
def: "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." [Orphanet:363981]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363981"}
subset: orphanet_rare {source="Orphanet:363981"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease with focally folded myelin" EXACT [Orphanet:363981]
synonym: "Charcot-Marie-Tooth disease, type 4B3" RELATED [MONDO:Lexical, OMIM:615284]
synonym: "CMT4B3" EXACT ABBREVIATION [DOID:0110194, MONDO:Lexical, OMIM:615284, Orphanet:363981]
synonym: "SBF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110194 {source="MONDO:equivalentTo"}
xref: GARD:17578 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:363981/attributed", source="Orphanet:363981/ntbt", source="Orphanet:363981", source="DOID:0110194"}
xref: MEDGEN:811329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615284 {source="Orphanet:363981", source="DOID:0110194", source="MONDO:equivalentTo", source="Orphanet:363981/e"}
xref: Orphanet:363981 {source="DOID:0110194", source="MONDO:equivalentTo", source="OMIM:615284"}
xref: SCTID:763345008 {source="MONDO:equivalentTo"}
xref: UMLS:C3695063 {source="MEDGEN:811329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110194/inferred", source="MONDO:Redundant", source="OMIM:615284", source="Orphanet:363981/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018995 {source="DOID:0110194", source="MONDO:Redundant", source="Orphanet:363981"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10542 ! SBF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10542 {source="MONDO:mim2gene_medgen"} ! SBF1

[Term]
id: MONDO:0014118
name: congenital neutropenia-myelofibrosis-nephromegaly syndrome
subset: gard_rare {source="GARD:17585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369852"}
subset: orphanet_rare {source="Orphanet:369852"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [Orphanet:369852]
synonym: "neutropenia, severe congenital, 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615285]
synonym: "SCN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615285]
synonym: "vps45 deficiency" EXACT [Orphanet:369852]
xref: DOID:0112132 {source="MONDO:equivalentTo"}
xref: GARD:17585 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:369852", source="Orphanet:369852/attributed", source="Orphanet:369852/ntbt"}
xref: MEDGEN:815361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615285 {source="Orphanet:369852", source="MONDO:equivalentTo", source="Orphanet:369852/e"}
xref: Orphanet:369852 {source="MONDO:equivalentTo", source="OMIM:615285"}
xref: UMLS:C3809031 {source="MEDGEN:815361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
is_a: MONDO:0018542 {source="DC-OMIM:615285", source="OMIM:615285"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14579 ! VPS45
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14579 {source="MONDO:mim2gene_medgen"} ! VPS45
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014119
name: intellectual disability-strabismus syndrome
subset: gard_rare {source="GARD:17563", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363528"}
subset: orphanet_rare {source="Orphanet:363528"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, autosomal recessive 36" RELATED [MONDO:Lexical, OMIM:615286]
synonym: "intellectual disability, autosomal recessive type 36" EXACT [MONDORULE:2, OMIM:615286]
synonym: "mental retardation, autosomal recessive 36" RELATED DEPRECATED [MONDO:Lexical, OMIM:615286]
synonym: "mental retardation, autosomal recessive type 36" EXACT DEPRECATED [MONDORULE:2, OMIM:615286]
synonym: "MRT36" RELATED DEPRECATED [MONDO:Lexical, OMIM:615286]
synonym: "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" EXACT [OMIM:615286, OMIM:genemap2]
xref: DOID:0081099 {source="MONDO:equivalentTo"}
xref: GARD:17563 {source="MONDO:GARD"}
xref: ICD10CM:H50.8 {source="Orphanet:363528/attributed", source="Orphanet:363528/ntbt", source="Orphanet:363528"}
xref: MEDGEN:1665943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615286 {source="Orphanet:363528/e", source="MONDO:equivalentTo", source="Orphanet:363528"}
xref: Orphanet:363528 {source="MONDO:equivalentTo", source="OMIM:615286"}
xref: UMLS:C4750838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1665943"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:363528", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25151 {source="MONDO:mim2gene_medgen"} ! ADAT3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0014120
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15938", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615287]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" RELATED [MONDO:Lexical, OMIM:615287]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related" RELATED [OMIM:615287]
xref: DOID:0111238 {source="MONDO:equivalentTo"}
xref: GARD:15938 {source="MONDO:GARD"}
xref: MEDGEN:815372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615287 {source="MONDO:equivalentTo"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:615287"}
xref: UMLS:C3809042 {source="MEDGEN:815372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000171 {source="OMIM:615287", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15685 {source="MONDO:mim2gene_medgen"} ! B4GAT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014121
name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
subset: gard_rare {source="GARD:13222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:363454"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spinal muscular atrophy, lower extremity-predominant 2" RELATED [GARD:0013222]
synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures" EXACT [Orphanet:363454]
synonym: "SMALED2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615290, Orphanet:363454]
synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant" RELATED [GARD:0013222]
synonym: "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:615290]
synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT [OMIM:615290, OMIM:genemap2]
xref: DOID:0070349 {source="MONDO:equivalentTo"}
xref: GARD:13222 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:363454/attributed", source="Orphanet:363454/ntbt", source="Orphanet:363454"}
xref: MEDGEN:1669929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615290 {source="Orphanet:363454", source="MONDO:equivalentTo", source="Orphanet:363454/e"}
xref: Orphanet:363447 {source="OMIM:615290"}
xref: Orphanet:363454 {source="MONDO:equivalentTo", source="OMIM:615290"}
xref: UMLS:C4747715 {source="MEDGEN:1669929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="DC-OMIM:615290"} ! spinal muscular atrophy
is_a: MONDO:0018190 {source="OMIM:615290", source="Orphanet:363454"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17208 {source="MONDO:mim2gene_medgen"} ! BICD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014122
name: myofibromatosis, infantile, 2
def: "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15939", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IMF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615293]
synonym: "myofibromatosis caused by mutation in NOTCH3" EXACT [MONDO:design_pattern]
synonym: "myofibromatosis, infantile 2" EXACT [OMIM:615293, OMIM:genemap2]
synonym: "myofibromatosis, infantile, 2" EXACT [MONDO:Lexical, OMIM:615293]
synonym: "myofibromatosis, infantile, type 2" EXACT [MONDORULE:1, OMIM:615293]
synonym: "NOTCH3 myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15939 {source="MONDO:GARD"}
xref: MEDGEN:815414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615293 {source="MONDO:equivalentTo"}
xref: Orphanet:2591 {source="OMIM:615293"}
xref: UMLS:C3809084 {source="MEDGEN:815414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016824 {source="DC-OMIM:615293", source="MONDO:Redundant", source="OMIM:615293"} ! infantile myofibromatosis
intersection_of: MONDO:0016824 ! infantile myofibromatosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 ! NOTCH3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 {source="MONDO:mim2gene_medgen"} ! NOTCH3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014123
name: primary ciliary dyskinesia 21
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD21" EXACT ABBREVIATION [DOID:0110596, MONDO:Lexical, OMIM:615294]
synonym: "ciliary dyskinesia, primary, 21" RELATED [MONDO:Lexical, OMIM:615294]
synonym: "ciliary dyskinesia, primary, 21, without situs inversus" RELATED [OMIM:615294]
synonym: "ciliary dyskinesia, primary, type 21" EXACT [MONDORULE:2, OMIM:615294]
synonym: "DRC1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT [DOID:0110596]
synonym: "primary ciliary dyskinesia caused by mutation in DRC1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 21" EXACT [DOID:0110596, MONDORULE:2]
xref: DOID:0110596 {source="MONDO:equivalentTo"}
xref: GARD:15940 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110596"}
xref: MEDGEN:815417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615294 {source="MONDO:equivalentTo", source="DOID:0110596"}
xref: UMLS:C3809087 {source="MEDGEN:815417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:615294", source="DOID:0110596", source="MONDO:Redundant", source="OMIM:615294"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24245 ! DRC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24245 {source="MONDO:mim2gene_medgen"} ! DRC1

[Term]
id: MONDO:0014124
name: Adams-Oliver syndrome 4
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15941", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Adams-Oliver syndrome 4" EXACT [MONDO:Lexical, OMIM:615297]
synonym: "Adams-Oliver syndrome caused by mutation in EOGT" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 4" EXACT [MONDORULE:1, OMIM:615297]
synonym: "AOS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615297]
synonym: "EOGT Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15941 {source="MONDO:GARD"}
xref: MEDGEN:815422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615297 {source="MONDO:equivalentTo"}
xref: Orphanet:974 {source="OMIM:615297"}
xref: UMLS:C3809092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815422"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:615297", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0007034 ! Adams-Oliver syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28526 ! EOGT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28526 {source="MONDO:mim2gene_medgen"} ! EOGT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014125
name: symphalangism, proximal, 1B
def: "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDF5 proximal symphalangism (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "proximal symphalangism (disease) caused by mutation in GDF5" EXACT []
synonym: "SYM1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615298]
synonym: "symphalangism, proximal, 1B" EXACT [MONDO:Lexical, OMIM:615298]
synonym: "symphalangism, proximal, type 1B" EXACT [MONDORULE:4, OMIM:615298]
xref: DOID:0080788 {source="MONDO:equivalentTo"}
xref: GARD:15942 {source="MONDO:GARD"}
xref: MEDGEN:815434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615298 {source="MONDO:equivalentTo"}
xref: Orphanet:3250 {source="OMIM:615298"}
xref: UMLS:C3809104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815434"}
is_a: MONDO:0008511 {source="MONDO:Redundant", source="OMIM:615298", source="Orphanet:3250/btnt"} ! proximal symphalangism
intersection_of: MONDO:0008511 ! proximal symphalangism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 ! GDF5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5

[Term]
id: MONDO:0014126
name: Perrault syndrome 4
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Perrault syndrome 4" EXACT [MONDO:Lexical, OMIM:615300]
synonym: "Perrault syndrome caused by mutation in LARS2" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 4" EXACT [MONDORULE:1, OMIM:615300]
synonym: "PRLTS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615300]
xref: GARD:15943 {source="MONDO:GARD"}
xref: MEDGEN:815435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615300 {source="MONDO:equivalentTo"}
xref: Orphanet:2855 {source="OMIM:615300"}
xref: UMLS:C3809105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815435"}
is_a: MONDO:0017312 {source="DC-OMIM:615300", source="MONDO:Redundant", source="OMIM:615300"} ! Perrault syndrome
intersection_of: MONDO:0017312 ! Perrault syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17095 ! LARS2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615300"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17095 {source="MONDO:mim2gene_medgen"} ! LARS2

[Term]
id: MONDO:0014127
name: oculocutaneous albinism type 5
def: "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." [Orphanet:370091]
subset: gard_rare {source="GARD:17598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370091"}
subset: orphanet_rare {source="Orphanet:370091"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism, oculocutaneous, type V" RELATED [MONDO:Lexical, OMIM:615312]
synonym: "OCA5" EXACT ABBREVIATION [DOID:0070099, MONDO:Lexical, OMIM:615312, Orphanet:370091]
synonym: "oculocutaneous albinism type V" RELATED [DOID:0070099]
xref: DOID:0070099 {source="MONDO:equivalentTo"}
xref: GARD:17598 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:370091/attributed", source="Orphanet:370091/ntbt", source="Orphanet:370091"}
xref: MEDGEN:854888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615312 {source="DOID:0070099", source="Orphanet:370091/e", source="MONDO:equivalentTo", source="Orphanet:370091"}
xref: Orphanet:370091 {source="OMIM:615312", source="MONDO:equivalentTo"}
xref: SCTID:722057000 {source="MONDO:equivalentTo"}
xref: UMLS:C3888401 {source="MONDO:equivalentTo", source="MEDGEN:854888", source="MONDO:MEDGEN"}
is_a: MONDO:0018910 {source="DC-OMIM:615312", source="DOID:0070099", source="OMIM:615312", source="Orphanet:370091"} ! oculocutaneous albinism

[Term]
id: MONDO:0014128
name: TCF12-related craniosynostosis
def: "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." [https://clinicalgenome.org/affiliation/40059/, MONDO:patterns/disease_series_by_gene, PMID:23354436]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis 3" EXACT [MONDO:Lexical, OMIM:615314]
synonym: "craniosynostosis caused by mutation in TCF12" EXACT [MONDO:design_pattern]
synonym: "craniosynostosis type 3" EXACT [MONDORULE:1, OMIM:615314]
synonym: "CRS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615314]
synonym: "TCF12 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TCF12-related craniosynostosis" EXACT CLINGEN_LABEL []
xref: GARD:18047 {source="MONDO:GARD"}
xref: MEDGEN:811568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615314 {source="MONDO:equivalentTo"}
xref: Orphanet:35098 {source="OMIM:615314"}
xref: Orphanet:35099 {source="OMIM:615314"}
xref: UMLS:C3715051 {source="MEDGEN:811568", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="MONDO:Redundant", source="OMIM:615314", source="https://orcid.org/0000-0002-6601-2165"} ! craniosynostosis
intersection_of: MONDO:0015469 ! craniosynostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11623 ! TCF12
relationship: excluded_subClassOf MONDO:0018113 {source="Orphanet:35098/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete isolated plagiocephaly
relationship: excluded_subClassOf MONDO:0018114 {source="Orphanet:35099/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete isolated brachycephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11623 {source="MONDO:mim2gene_medgen"} ! TCF12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2657" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014129
name: obsolete autosomal recessive limb-girdle muscular dystrophy type 2R
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4370" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011076

[Term]
id: MONDO:0014130
name: Dowling-Degos disease 2
def: "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DDD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615327]
synonym: "Dowling-Degos disease 2" EXACT [MONDO:Lexical, OMIM:615327]
synonym: "Dowling-Degos disease caused by mutation in POFUT1" EXACT [MONDO:design_pattern]
synonym: "Dowling-Degos disease type 2" EXACT [MONDORULE:1, OMIM:615327]
synonym: "POFUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15944 {source="MONDO:GARD"}
xref: MEDGEN:815477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615327 {source="MONDO:equivalentTo"}
xref: Orphanet:79145 {source="OMIM:615327"}
xref: UMLS:C3809147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815477"}
is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:615327"} ! reticulate pigment disorder
is_a: MONDO:0008371 {source="MONDO:Redundant", source="Orphanet:79145/btnt"} ! Dowling-Degos disease
intersection_of: MONDO:0008371 ! Dowling-Degos disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14988 ! POFUT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14988 {source="MONDO:mim2gene_medgen"} ! POFUT1

[Term]
id: MONDO:0014131
name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
subset: gard_rare {source="GARD:17562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363523"}
subset: orphanet_rare {source="Orphanet:363523"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SHAHEEN syndrome" RELATED [MONDO:Lexical, OMIM:615328]
synonym: "SHNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615328]
xref: GARD:17562 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:363523", source="Orphanet:363523/attributed", source="Orphanet:363523/ntbt"}
xref: MEDGEN:815490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615328 {source="MONDO:equivalentTo", source="Orphanet:363523", source="Orphanet:363523/e"}
xref: Orphanet:363523 {source="MONDO:equivalentTo", source="OMIM:615328"}
xref: UMLS:C3809160 {source="MEDGEN:815490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:363523", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615328", source="Orphanet:363523"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18621 {source="MONDO:mim2gene_medgen"} ! COG6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014132
name: multiple mitochondrial dysfunctions syndrome 3
def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363424"}
subset: orphanet_rare {source="Orphanet:363424"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" EXACT [MONDO:design_pattern]
synonym: "IBA57 deficiency" EXACT [Orphanet:363424]
synonym: "IBA57 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MMDS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615330]
synonym: "multiple mitochondrial dysfunctions syndrome 3" EXACT [MONDO:Lexical, OMIM:615330]
synonym: "multiple mitochondrial dysfunctions syndrome type 3" EXACT [DOID:0080135, MONDORULE:1, OMIM:615330]
xref: DOID:0080135 {source="MONDO:equivalentTo"}
xref: GARD:17555 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:363424", source="Orphanet:363424/attributed", source="Orphanet:363424/ntbt"}
xref: MEDGEN:815495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615330 {source="MONDO:equivalentTo", source="DOID:0080135", source="Orphanet:363424", source="Orphanet:363424/e"}
xref: Orphanet:289573 {source="OMIM:615330"}
xref: Orphanet:363424 {source="MONDO:equivalentTo", source="OMIM:615330"}
xref: UMLS:C3809165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815495"}
is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:615330", source="Orphanet:363424"} ! fatal multiple mitochondrial dysfunctions syndrome
intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 ! IBA57
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 {source="MONDO:mim2gene_medgen"} ! IBA57

[Term]
id: MONDO:0014133
name: developmental and epileptic encephalopathy, 16
subset: gard_rare {source="GARD:15945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE16" EXACT ABBREVIATION [OMIM:615338]
synonym: "developmental and epileptic encephalopathy 16" EXACT [OMIM:615338, OMIM:genemap2]
synonym: "EIEE16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615338]
synonym: "epileptic encephalopathy, early infantile, 16" EXACT [MONDO:Lexical, OMIM:615338]
synonym: "epileptic encephalopathy, early infantile, type 16" EXACT [MONDORULE:2, OMIM:615338]
xref: DOID:0080449 {source="MONDO:equivalentTo"}
xref: GARD:15945 {source="MONDO:GARD"}
xref: MEDGEN:815503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615338 {source="MONDO:equivalentTo"}
xref: Orphanet:293181 {source="OMIM:615338"}
xref: Orphanet:352596 {source="MONDO:relatedTo", source="OMIM:615338"}
xref: UMLS:C3809173 {source="MEDGEN:815503", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partial seizures of infancy
is_a: MONDO:0100062 {source="DC-OMIM:615338", source="OMIM:615338"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014134
name: pulmonary hypertension, primary, 2
def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615342]
synonym: "primary pulmonary hypertension caused by mutation in SMAD9" EXACT [MONDO:design_pattern]
synonym: "pulmonary hypertension, primary, 2" EXACT [MONDO:Lexical, OMIM:615342]
synonym: "pulmonary hypertension, primary, type 2" EXACT [MONDORULE:1, OMIM:615342]
synonym: "SMAD9 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18394 {source="MONDO:GARD"}
xref: MEDGEN:854709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615342 {source="MONDO:equivalentTo"}
xref: Orphanet:422 {source="OMIM:615342"}
xref: UMLS:C3888002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854709"}
is_a: MONDO:0017148 {source="MONDO:Redundant", source="OMIM:615342"} ! heritable pulmonary arterial hypertension
intersection_of: MONDO:0017148 ! heritable pulmonary arterial hypertension
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6774 ! SMAD9
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6774 {source="MONDO:mim2gene_medgen"} ! SMAD9

[Term]
id: MONDO:0014135
name: pulmonary hypertension, primary, 3
def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAV1 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615343]
synonym: "primary pulmonary hypertension caused by mutation in CAV1" EXACT [MONDO:design_pattern]
synonym: "pulmonary hypertension, primary, 3" EXACT [MONDO:Lexical, OMIM:615343]
synonym: "pulmonary hypertension, primary, type 3" EXACT [MONDORULE:1, OMIM:615343]
xref: MEDGEN:815522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615343 {source="MONDO:equivalentTo"}
xref: Orphanet:422 {source="OMIM:615343"}
xref: UMLS:C3809192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815522"}
is_a: MONDO:0017148 {source="MONDO:Redundant", source="OMIM:615343"} ! heritable pulmonary arterial hypertension
intersection_of: MONDO:0017148 ! heritable pulmonary arterial hypertension
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 ! CAV1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 {source="MONDO:mim2gene_medgen"} ! CAV1

[Term]
id: MONDO:0014136
name: pulmonary hypertension, primary, 4
def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KCNK3 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PPH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615344]
synonym: "primary pulmonary hypertension caused by mutation in KCNK3" EXACT [MONDO:design_pattern]
synonym: "pulmonary hypertension, primary, 4" EXACT [MONDO:Lexical, OMIM:615344]
synonym: "pulmonary hypertension, primary, type 4" EXACT [MONDORULE:1, OMIM:615344]
xref: MEDGEN:815528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615344 {source="MONDO:equivalentTo"}
xref: Orphanet:422 {source="OMIM:615344"}
xref: UMLS:C3809198 {source="MEDGEN:815528", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017148 {source="MONDO:Redundant", source="OMIM:615344"} ! heritable pulmonary arterial hypertension
intersection_of: MONDO:0017148 ! heritable pulmonary arterial hypertension
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6278 ! KCNK3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6278 {source="MONDO:mim2gene_medgen"} ! KCNK3

[Term]
id: MONDO:0014137
name: precocious puberty, central, 2
def: "Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central precocious puberty caused by mutation in MKRN3" EXACT [MONDO:design_pattern]
synonym: "CPPB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615346]
synonym: "MKRN3 central precocious puberty" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "precocious puberty, central, 2" EXACT [MONDO:Lexical, OMIM:615346]
synonym: "precocious puberty, central, type 2" EXACT [MONDORULE:1, OMIM:615346]
xref: DOID:0112309 {source="MONDO:equivalentTo"}
xref: MEDGEN:815529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615346 {source="MONDO:equivalentTo"}
xref: Orphanet:759 {source="OMIM:615346"}
xref: UMLS:C3809199 {source="MEDGEN:815529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019165 {source="MONDO:Redundant", source="Orphanet:759/btnt"} ! central precocious puberty
intersection_of: MONDO:0019165 ! central precocious puberty
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7114 ! MKRN3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7114 {source="MONDO:mim2gene_medgen"} ! MKRN3

[Term]
id: MONDO:0014138
name: nemaline myopathy 8
def: "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129871]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15946", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KLHL40 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM8" EXACT ABBREVIATION [DOID:0110930, MONDO:Lexical, OMIM:615348]
synonym: "nemaline myopathy 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615348]
synonym: "nemaline myopathy 8, autosomal recessive" EXACT [DOID:0110930]
synonym: "nemaline myopathy caused by mutation in KLHL40" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 8" EXACT [DOID:0110930, MONDORULE:1, OMIM:615348]
xref: DOID:0110930 {source="MONDO:equivalentTo"}
xref: GARD:15946 {source="MONDO:GARD"}
xref: MEDGEN:815539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129871 {source="MONDO:equivalentTo"}
xref: OMIM:615348 {source="DOID:0110930", source="MONDO:equivalentTo"}
xref: Orphanet:607 {source="OMIM:615348"}
xref: UMLS:C3809209 {source="MEDGEN:815539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:0110930/inferred", source="MONDO:Redundant", source="NCIT:C129871"} ! myopathy
is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110930", source="MONDO:Redundant", source="OMIM:615348"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30372 ! KLHL40
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30372 {source="MONDO:mim2gene_medgen"} ! KLHL40

[Term]
id: MONDO:0014139
name: Ehlers-Danlos syndrome, spondylodysplastic type, 2
def: "Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15947", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:536467"}
subset: rare
synonym: "B3GALT6 Ehlers-Danlos syndrome progeroid type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "B3GALT6-related spEDS" EXACT [Orphanet:536467]
synonym: "B3GALT6-related spondylodysplastic EDS" EXACT [Orphanet:536467]
synonym: "Beta3GalT6-deficient EDS" EXACT [Orphanet:536467]
synonym: "EDSP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615349]
synonym: "EDSSPD2" EXACT ABBREVIATION [OMIM:615349]
synonym: "Ehlers-Danlos syndrome progeroid type 2" EXACT [Orphanet:536467]
synonym: "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6" EXACT [MONDO:design_pattern]
synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [MONDO:Lexical, OMIM:615349]
synonym: "Ehlers-Danlos syndrome, progeroid type, 2, formerly" RELATED [OMIM:615349]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 2" EXACT [OMIM:615349]
synonym: "spEDS-B3GALT6" EXACT [Orphanet:536467]
xref: GARD:15947 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="MONDO:mondoSubClassOfSource", source="Orphanet:536467"}
xref: MEDGEN:815540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615349 {source="MONDO:equivalentTo", source="Orphanet:536467"}
xref: Orphanet:536467 {source="MONDO:equivalentTo"}
xref: Orphanet:75496 {source="OMIM:615349"}
xref: UMLS:C3809210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815540"}
is_a: MONDO:0007526 {source="MONDO:Redundant", source="Orphanet:75496/btnt"} ! Ehlers-Danlos syndrome, spondylodysplastic type
intersection_of: MONDO:0007526 ! Ehlers-Danlos syndrome, spondylodysplastic type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 ! B3GALT6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 {source="MONDO:mim2gene_medgen"} ! B3GALT6

[Term]
id: MONDO:0014140
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
subset: gard_rare {source="GARD:15948", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615350]
synonym: "muscle-eye-brain-GMPPB related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" RELATED [MONDO:Lexical, OMIM:615350]
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" RELATED [OMIM:615350]
xref: DOID:0111233 {source="MONDO:equivalentTo"}
xref: GARD:15948 {source="MONDO:GARD"}
xref: MEDGEN:815546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615350 {source="MONDO:equivalentTo"}
xref: Orphanet:588 {source="OMIM:615350"}
xref: UMLS:C3809216 {source="MEDGEN:815546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000171 {source="OMIM:615350"} ! muscular dystrophy-dystroglycanopathy, type A
is_a: MONDO:0018939 ! muscle-eye-brain disease
is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 {source="MONDO:mim2gene_medgen"} ! GMPPB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014141
name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital muscular dystrophy-GMPPB related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "MDDGB14" RELATED DEPRECATED [MONDO:Lexical, OMIM:615351]
synonym: "muscular dystrophy, congenital, GMPPB-related" RELATED [OMIM:615351]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14" RELATED [MONDO:Lexical, OMIM:615351]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:615351]
xref: DOID:0112377 {source="MONDO:equivalentTo"}
xref: MEDGEN:815551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615351 {source="MONDO:equivalentTo"}
xref: Orphanet:370959 {source="MONDO:relatedTo", source="OMIM:615351"}
xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:615351"}
xref: UMLS:C3809221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815551"}
is_a: MONDO:0000172 {source="DC-OMIM:615351", source="OMIM:615351"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 {source="MONDO:mim2gene_medgen"} ! GMPPB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014142
name: autosomal recessive limb-girdle muscular dystrophy type 2T
def: "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." [Orphanet:363623]
subset: gard_rare {source="GARD:12544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363623"}
subset: orphanet_rare {source="Orphanet:363623"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB" EXACT [MONDO:design_pattern]
synonym: "GMPPB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD-GMPPB related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "LGMD2T" EXACT ABBREVIATION [DOID:0110294, Orphanet:363623]
synonym: "limb-girdle muscular dystrophy type 2T" RELATED [GARD:0012544]
synonym: "MDDGC14" EXACT ABBREVIATION [DOID:0110294, MONDO:Lexical, OMIM:615352]
synonym: "muscular dystrophy limb-girdle type 2T" EXACT [DOID:0110294]
synonym: "muscular dystrophy, limb-girdle, type 2T" RELATED [OMIM:615352]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" EXACT [DOID:0110294]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" RELATED [MONDO:Lexical, OMIM:615352]
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT [DOID:0110294]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related" RELATED [OMIM:615352]
xref: DOID:0110294 {source="MONDO:equivalentTo"}
xref: GARD:12544 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0110294"}
xref: ICD10CM:G71.2 {source="Orphanet:363623", source="Orphanet:363623/attributed", source="Orphanet:363623/ntbt"}
xref: MEDGEN:1377325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615352 {source="MONDO:equivalentTo", source="Orphanet:363623", source="DOID:0110294", source="Orphanet:363623/e"}
xref: Orphanet:363623 {source="MONDO:equivalentTo", source="DOID:0110294", source="OMIM:615352"}
xref: UMLS:C4518000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1377325"}
is_a: MONDO:0000173 {source="DC-OMIM:615352", source="OMIM:615352"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110294", source="MONDO:Redundant", source="OMIM:615352", source="Orphanet:363623"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 ! GMPPB
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 {source="MONDO:mim2gene_medgen"} ! GMPPB

[Term]
id: MONDO:0014143
name: Noonan syndrome 8
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Noonan syndrome 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615355]
synonym: "Noonan syndrome caused by mutation in RIT1" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 8" EXACT [DOID:0060586, MONDORULE:1, OMIM:615355]
synonym: "NS8" EXACT ABBREVIATION [DOID:0060586, MONDO:Lexical, OMIM:615355]
synonym: "RIT1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060586 {source="MONDO:equivalentTo"}
xref: GARD:15949 {source="MONDO:GARD"}
xref: MEDGEN:815563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176936 {source="MONDO:equivalentTo"}
xref: OMIM:615355 {source="DOID:0060586", source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:615355"}
xref: UMLS:C3809233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815563"}
is_a: MONDO:0018997 {source="DC-OMIM:615355", source="DOID:0060586", source="MONDO:Redundant", source="OMIM:615355"} ! Noonan syndrome
intersection_of: MONDO:0018997 ! Noonan syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10023 ! RIT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10023 {source="MONDO:mim2gene_medgen"} ! RIT1

[Term]
id: MONDO:0014144
name: autosomal recessive limb-girdle muscular dystrophy type R18
def: "A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." [https://orcid.org/0000-0001-5208-3432, Orphanet:369840, PMID:30055862]
subset: gard_rare {source="GARD:12543", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369840"}
subset: orphanet_rare {source="Orphanet:369840"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy type 2S" EXACT [Orphanet:369840]
synonym: "LGMD2S" EXACT ABBREVIATION [DOID:0110287, MONDO:Lexical, OMIM:615356, Orphanet:369840]
synonym: "limb-girdle muscular dystrophy type 2S" RELATED [GARD:0012543]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 18" EXACT [OMIM:615356, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2S" EXACT [DOID:0110287, MONDO:Lexical, OMIM:615356]
synonym: "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110287 {source="MONDO:equivalentTo"}
xref: GARD:12543 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:369840", source="Orphanet:369840/attributed", source="Orphanet:369840/ntbt", source="DOID:0110287"}
xref: MEDGEN:1385598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615356 {source="Orphanet:369840", source="MONDO:equivalentTo", source="Orphanet:369840/e", source="DOID:0110287"}
xref: Orphanet:369840 {source="OMIM:615356", source="MONDO:equivalentTo", source="DOID:0110287"}
xref: Orphanet:369847 {source="OMIM:615356"}
xref: UMLS:C4517996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385598"}
is_a: MONDO:0015152 {source="DOID:0110287", source="MONDO:Redundant", source="OMIM:615356", source="Orphanet:369840"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0018243 ! intellectual disability-hyperkinetic movement-truncal ataxia syndrome
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25751 ! TRAPPC11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25751 {source="MONDO:mim2gene_medgen"} ! TRAPPC11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014145
name: Leber congenital amaurosis 17
def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDF6 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA17" EXACT ABBREVIATION [DOID:0110217, MONDO:Lexical, OMIM:615360]
synonym: "Leber congenital amaurosis 17" EXACT [MONDO:Lexical, OMIM:615360]
synonym: "Leber congenital amaurosis caused by mutation in GDF6" EXACT [MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 17" EXACT [DOID:0110217, MONDORULE:2, OMIM:615360]
xref: DOID:0110217 {source="MONDO:equivalentTo"}
xref: GARD:15950 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110217", source="MONDO:relatedTo"}
xref: MEDGEN:811616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615360 {source="DOID:0110217", source="MONDO:equivalentTo"}
xref: UMLS:C3715164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811616"}
is_a: MONDO:0018998 {source="DC-OMIM:615360", source="DOID:0110217", source="MONDO:Redundant", source="OMIM:615360"} ! Leber congenital amaurosis
intersection_of: MONDO:0018998 ! Leber congenital amaurosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 ! GDF6
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 {source="MONDO:mim2gene_medgen"} ! GDF6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014146
name: autosomal dominant hypocalcemia 2
def: "An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." [DOID:0090108]
subset: gard_rare {source="GARD:15951", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant hypocalcemia type 2" EXACT [DOID:0090108, MONDORULE:1]
synonym: "HYPOC2" EXACT ABBREVIATION [DOID:0090108, MONDO:Lexical, OMIM:615361]
synonym: "hypocalcemia, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:615361]
synonym: "hypocalcemia, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:615361]
xref: DOID:0090108 {source="MONDO:equivalentTo"}
xref: GARD:15951 {source="MONDO:GARD"}
xref: MEDGEN:815573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615361 {source="MONDO:equivalentTo", source="DOID:0090108"}
xref: Orphanet:2238 {source="OMIM:615361"}
xref: Orphanet:428 {source="OMIM:615361"}
xref: UMLS:C3809243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815573"}
is_a: MONDO:0018543 {source="DOID:0090108", source="OMIM:615361"} ! autosomal dominant hypocalcemia

[Term]
id: MONDO:0014147
name: neuronal ceroid lipofuscinosis 13
def: "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17527", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352709"}
subset: ordo_etiological_subtype {source="Orphanet:352709"}
subset: orphanet_rare {source="Orphanet:352709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinosis, neuronal, 13" RELATED [MONDO:Lexical, OMIM:615362]
synonym: "ceroid lipofuscinosis, neuronal, 13 (Kufs type)" EXACT [OMIM:615362, OMIM:genemap2]
synonym: "ceroid lipofuscinosis, neuronal, 13, Kufs type" RELATED [OMIM:615362]
synonym: "ceroid lipofuscinosis, neuronal, type 13" EXACT [MONDORULE:2, OMIM:615362]
synonym: "CLN13" EXACT ABBREVIATION [DOID:0110727, MONDO:Lexical, OMIM:615362]
synonym: "CLN13 disease" RELATED [Orphanet:352709]
synonym: "CTSF neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [DOID:0110727]
synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSF" EXACT [MONDO:design_pattern]
synonym: "neuronal ceroid lipofuscinosis type 13" EXACT [DOID:0110727, MONDORULE:2]
xref: DOID:0110727 {source="MONDO:equivalentTo"}
xref: GARD:17527 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:352709/attributed", source="Orphanet:352709/ntbt", source="Orphanet:352709", source="DOID:0110727"}
xref: MEDGEN:811566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615362 {source="Orphanet:352709", source="DOID:0110727", source="MONDO:equivalentTo", source="Orphanet:352709/e"}
xref: Orphanet:352709 {source="DOID:0110727", source="MONDO:equivalentTo", source="OMIM:615362"}
xref: Orphanet:79262 {source="OMIM:615362"}
xref: UMLS:C3715049 {source="MEDGEN:811566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016295 {source="DOID:0110727", source="MONDO:Redundant", source="OMIM:615362", source="Orphanet:352709/inferred"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0019260 {source="Orphanet:352709"} ! adult neuronal ceroid lipofuscinosis
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2531 ! CTSF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2531 {source="MONDO:mim2gene_medgen"} ! CTSF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014148
name: estrogen resistance syndrome
def: "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." [Orphanet:785]
subset: gard_rare {source="GARD:16548", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:785"}
subset: orphanet_rare {source="Orphanet:785"}
subset: rare
synonym: "estrogen insensitivity" RELATED [OMIM:615363]
synonym: "estrogen resistance" RELATED [MONDO:Lexical, OMIM:615363]
synonym: "ESTRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615363]
synonym: "oestrogen insensitivity" RELATED OMO:0003005 []
synonym: "oestrogen resistance" RELATED OMO:0003005 []
xref: GARD:16548 {source="MONDO:GARD"}
xref: icd11.foundation:1267163286 {source="Orphanet:785", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:815580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615363 {source="Orphanet:785", source="MONDO:equivalentTo", source="Orphanet:785/e"}
xref: Orphanet:785 {source="MONDO:equivalentTo", source="OMIM:615363"}
xref: SCTID:724555000 {source="MONDO:equivalentTo"}
xref: UMLS:C3809250 {source="MONDO:equivalentTo", source="MEDGEN:815580", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 {source="Orphanet:785"} ! endocrine system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3467 {source="MONDO:mim2gene_medgen"} ! ESR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014149
name: fetal akinesia-cerebral and retinal hemorrhage syndrome
def: "Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate." [Orphanet:363409]
subset: gard_rare {source="GARD:17553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363409"}
subset: orphanet_rare {source="Orphanet:363409"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LCCS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615368]
synonym: "lethal congenital contracture syndrome 5" RELATED [MONDO:Lexical, OMIM:615368]
synonym: "lethal congenital contracture syndrome type 5" EXACT [MONDORULE:1, OMIM:615368]
synonym: "myopathy, centronuclear, lethal, autosomal recessive" RELATED [OMIM:615368]
xref: GARD:17553 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:363409/attributed", source="Orphanet:363409/ntbt", source="Orphanet:363409"}
xref: MEDGEN:1631944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615368 {source="Orphanet:363409/e", source="MONDO:equivalentTo", source="Orphanet:363409"}
xref: Orphanet:363409 {source="OMIM:615368", source="MONDO:equivalentTo"}
xref: SCTID:763346009 {source="MONDO:equivalentTo"}
xref: UMLS:C4706410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631944"}
is_a: MONDO:0017436 {source="DC-OMIM:615368", source="OMIM:615368"} ! lethal congenital contracture syndrome
is_a: MONDO:0019952 {source="Orphanet:363409"} ! congenital myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2974 {source="MONDO:mim2gene_medgen"} ! DNM2

[Term]
id: MONDO:0014150
name: developmental and epileptic encephalopathy 94
def: "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability." [DOID:0060475, OMIM:615369, PMID:23708187, PMID:24207121]
subset: gard_rare {source="GARD:13197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHCHD10-related disorders" RELATED [GARD:0013197]
synonym: "CHD2 myoclonic encephalopathy" RELATED [GARD:0013197]
synonym: "childhood onset epileptic encephalopathy" EXACT CLINGEN_LABEL [DOID:0060475]
synonym: "childhood-onset epileptic encephalopathy" RELATED [GARD:0013197]
synonym: "DEE94" EXACT ABBREVIATION [OMIM:615369]
synonym: "developmental and epileptic encephalopathy 94" EXACT [OMIM:615369]
synonym: "EEOC" EXACT ABBREVIATION [DOID:0060475, MONDO:Lexical, OMIM:615369]
synonym: "epileptic encephalopathy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615369]
xref: DOID:0081325 {source="MONDO:equivalentTo"}
xref: GARD:13197 {source="MONDO:GARD"}
xref: MEDGEN:815608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615369 {source="DOID:0060475", source="MONDO:equivalentTo"}
xref: Orphanet:1942 {source="OMIM:615369"}
xref: Orphanet:2382 {source="OMIM:615369"}
xref: UMLS:C3809278 {source="MEDGEN:815608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005579 {source="DOID:0060475"} ! epilepsy, idiopathic generalized
is_a: MONDO:0016025 {source="Orphanet:1942/btnt"} ! myoclonic-astatic epilepsy
is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome
is_a: MONDO:0100062 {source="OMIM:615369"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1917 {source="MONDO:mim2gene_medgen"} ! CHD2

[Term]
id: MONDO:0014151
name: pulmonary hypertension, neonatal, susceptibility to
subset: predisposition
synonym: "PHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615371]
synonym: "pulmonary hypertension, neonatal, susceptibility to" EXACT [MONDO:Lexical, OMIM:615371]
synonym: "susceptibility to neonatal pulmonary hypertension" RELATED [OMIM:615371]
xref: MEDGEN:811528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615371 {source="MONDO:equivalentTo"}
xref: UMLS:C3714958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811528"}
is_a: MONDO:0020573 {source="OMIM:615371"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2323 {source="MONDO:mim2gene_medgen"} ! CPS1
relationship: predisposes_towards MONDO:0100159 {source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary hypertension, neonatal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5530" xsd:anyURI

[Term]
id: MONDO:0014152
name: left ventricular noncompaction 8
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene." [MONDO:patterns/disease_series_by_gene]
comment: This appears in the series 115200 because of an included entity. {source="OMIM:615373"}
subset: gard_rare {source="GARD:15952", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1Ll" RELATED [OMIM:615373]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in PRDM16" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction 8" EXACT [MONDO:Lexical, OMIM:615373]
synonym: "left ventricular noncompaction type 8" EXACT [MONDORULE:1, OMIM:615373]
synonym: "LVNC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615373]
synonym: "PRDM16 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081157 {source="MONDO:equivalentTo"}
xref: GARD:15952 {source="MONDO:GARD"}
xref: MEDGEN:815618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615373 {source="MONDO:equivalentTo"}
xref: Orphanet:54260 {source="OMIM:615373"}
xref: UMLS:C3809288 {source="MONDO:equivalentTo", source="MEDGEN:815618", source="MONDO:MEDGEN"}
is_a: MONDO:0018901 {source="DC-OMIM:615373", source="OMIM:615373"} ! left ventricular noncompaction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14000 {source="MONDO:mim2gene_medgen"} ! PRDM16

[Term]
id: MONDO:0014153
name: cone-rod dystrophy 18
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 18" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615374]
synonym: "cone-rod dystrophy caused by mutation in RAB28" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 18" EXACT [DOID:0111024, MONDORULE:2, OMIM:615374]
synonym: "CORD18" EXACT ABBREVIATION [DOID:0111024, MONDO:Lexical, OMIM:615374]
synonym: "RAB28 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111024 {source="MONDO:equivalentTo"}
xref: GARD:15953 {source="MONDO:GARD"}
xref: MEDGEN:815629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615374 {source="MONDO:equivalentTo", source="DOID:0111024"}
xref: Orphanet:1872 {source="OMIM:615374"}
xref: UMLS:C3809299 {source="MONDO:equivalentTo", source="MEDGEN:815629", source="MONDO:MEDGEN"}
is_a: MONDO:0015993 {source="DC-OMIM:615374", source="DOID:0111024", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
is_a: MONDO:0100448 {source="https://clinicalgenome.org/affiliation/40072/"} ! RAB28-related retinopathy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9768 ! RAB28
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9768 {source="MONDO:mim2gene_medgen"} ! RAB28

[Term]
id: MONDO:0014154
name: Charcot-Marie-Tooth disease recessive intermediate C
def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." [Orphanet:369867]
subset: gard_rare {source="GARD:17587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369867"}
subset: orphanet_rare {source="Orphanet:369867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110198]
synonym: "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease recessive intermediate type C" EXACT [DOID:0110198, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate C" RELATED [MONDO:Lexical, OMIM:615376]
synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type C" EXACT [MONDORULE:1, OMIM:615376]
synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate C" RELATED [OMIM:615376]
synonym: "CMTRIC" EXACT ABBREVIATION [DOID:0110198, MONDO:Lexical, OMIM:615376]
synonym: "PLEKHG5 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RI-CMT type C" EXACT [DOID:0110198, Orphanet:369867]
synonym: "RI-CMTC" EXACT [DOID:0110198]
xref: DOID:0110198 {source="MONDO:equivalentTo"}
xref: GARD:17587 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:369867/attributed", source="Orphanet:369867/ntbt", source="Orphanet:369867", source="DOID:0110198"}
xref: MEDGEN:815639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615376 {source="Orphanet:369867", source="MONDO:equivalentTo", source="DOID:0110198", source="Orphanet:369867/e"}
xref: Orphanet:369867 {source="MONDO:equivalentTo", source="DOID:0110198", source="OMIM:615376"}
xref: UMLS:C3809309 {source="MEDGEN:815639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110198/inferred", source="MONDO:Redundant", source="OMIM:615376", source="Orphanet:369867/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0017058 {source="Orphanet:369867"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29105 ! PLEKHG5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29105 {source="MONDO:mim2gene_medgen"} ! PLEKHG5

[Term]
id: MONDO:0014155
name: atrial fibrillation, familial, 13
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15954", source="MONDO:GARD"}
subset: rare
synonym: "ATFB13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615377]
synonym: "atrial fibrillation, familial, 13" EXACT [MONDO:Lexical, OMIM:615377]
synonym: "atrial fibrillation, familial, type 13" EXACT [MONDORULE:2, OMIM:615377]
synonym: "familial atrial fibrillation caused by mutation in SCN1B" EXACT [MONDO:design_pattern]
synonym: "SCN1B familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15954 {source="MONDO:GARD"}
xref: MEDGEN:815641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615377 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:615377"}
xref: UMLS:C3809311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815641"}
is_a: MONDO:0018054 {source="DC-OMIM:615377", source="MONDO:Redundant", source="OMIM:615377"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10586 ! SCN1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10586 {source="MONDO:mim2gene_medgen"} ! SCN1B

[Term]
id: MONDO:0014156
name: atrial fibrillation, familial, 14
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15955", source="MONDO:GARD"}
subset: rare
synonym: "ATFB14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615378]
synonym: "atrial fibrillation, familial, 14" EXACT [MONDO:Lexical, OMIM:615378]
synonym: "atrial fibrillation, familial, type 14" EXACT [MONDORULE:2, OMIM:615378]
synonym: "familial atrial fibrillation caused by mutation in SCN2B" EXACT [MONDO:design_pattern]
synonym: "SCN2B familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15955 {source="MONDO:GARD"}
xref: MEDGEN:815642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615378 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:615378"}
xref: UMLS:C3809312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815642"}
is_a: MONDO:0018054 {source="DC-OMIM:615378", source="MONDO:Redundant", source="OMIM:615378"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10589 ! SCN2B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10589 {source="MONDO:mim2gene_medgen"} ! SCN2B

[Term]
id: MONDO:0014157
name: mandibular hypoplasia-deafness-progeroid syndrome
subset: gard_rare {source="GARD:10989", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363649"}
subset: orphanet_rare {source="Orphanet:363649"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mandibular hypoplasia, deafness, progeroid features" RELATED [GARD:0010989]
synonym: "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" RELATED [MONDO:Lexical, OMIM:615381]
synonym: "mandibular hypoplasia-hearing loss-progeroid syndrome" EXACT [Orphanet:363649]
synonym: "MDP syndrome" EXACT [Orphanet:363649]
synonym: "MDPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615381]
xref: GARD:10989 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:363649/attributed", source="Orphanet:363649/ntbt", source="Orphanet:363649"}
xref: MEDGEN:811623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615381 {source="Orphanet:363649/e", source="MONDO:equivalentTo", source="Orphanet:363649"}
xref: Orphanet:363649 {source="MONDO:equivalentTo", source="OMIM:615381"}
xref: UMLS:C3715192 {source="MEDGEN:811623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019303 {source="Orphanet:363649"} ! premature aging syndrome
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:363649", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9175 {source="MONDO:mim2gene_medgen"} ! POLD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI

[Term]
id: MONDO:0014158
name: nephronophthisis 16
def: "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18183", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANKS6 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive infantile nephronophthisis" RELATED [Orphanet:93591]
synonym: "autosomal recessive infantile NPHP" RELATED [Orphanet:93591]
synonym: "infantile nephronophthisis" RELATED [Orphanet:93591]
synonym: "nephronophthisis (disease) caused by mutation in ANKS6" EXACT []
synonym: "nephronophthisis 16" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615382]
synonym: "nephronophthisis type 16" EXACT [DOID:0111124, MONDORULE:2, OMIM:615382]
synonym: "NPHP16" EXACT ABBREVIATION [DOID:0111124, MONDO:Lexical, OMIM:615382]
xref: DOID:0111124 {source="MONDO:equivalentTo"}
xref: GARD:18183 {source="MONDO:GARD"}
xref: ICD10CM:Q61.5 {source="Orphanet:93591/attributed", source="Orphanet:93591/ntbt", source="Orphanet:93591"}
xref: MEDGEN:815650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615382 {source="MONDO:equivalentTo", source="DOID:0111124", source="Orphanet:93591"}
xref: Orphanet:655 {source="OMIM:615382"}
xref: Orphanet:93591 {source="MONDO:relatedTo"}
xref: SCTID:444558002 {source="MONDO:equivalentTo"}
xref: UMLS:C3809320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815650"}
is_a: MONDO:0019005 {source="DOID:0111124", source="MONDO:Redundant", source="OMIM:615382", source="Orphanet:93591"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26724 ! ANKS6
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615382", source="Orphanet:93591"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26724 {source="MONDO:mim2gene_medgen"} ! ANKS6

[Term]
id: MONDO:0014159
name: autosomal recessive spinocerebellar ataxia 14
def: "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." [Orphanet:352403]
subset: gard_rare {source="GARD:17516", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352403"}
subset: orphanet_rare {source="Orphanet:352403"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" EXACT [Orphanet:352403]
synonym: "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive cerebellar ataxia-cognitive defect syndrome" EXACT [Orphanet:352403]
synonym: "autosomal recessive spinocerebellar ataxia type 14" EXACT [DOID:0080058, MONDORULE:2, Orphanet:352403]
synonym: "cerebellar ataxia, autosomal recessive, spectrin-associated, 1" RELATED [OMIM:615386]
synonym: "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" EXACT [Orphanet:352403]
synonym: "SCAR14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615386, Orphanet:352403]
synonym: "SPARCA" EXACT ABBREVIATION [Orphanet:352403]
synonym: "SPARCA1" EXACT ABBREVIATION [Orphanet:352403]
synonym: "spectrin-associated autosomal recessive cerebellar ataxia" RELATED [Orphanet:352403]
synonym: "spectrin-associated autosomal recessive cerebellar ataxia type 1" EXACT [Orphanet:352403]
synonym: "spinocerebellar ataxia, autosomal recessive 14" RELATED [MONDO:Lexical, OMIM:615386]
synonym: "spinocerebellar ataxia, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:615386]
synonym: "SPTBN2 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080058 {source="MONDO:equivalentTo"}
xref: GARD:17516 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:352403", source="Orphanet:352403/attributed", source="Orphanet:352403/ntbt"}
xref: MEDGEN:1636182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615386 {source="MONDO:equivalentTo", source="DOID:0080058", source="Orphanet:352403", source="Orphanet:352403/e"}
xref: Orphanet:352403 {source="MONDO:equivalentTo", source="OMIM:615386"}
xref: SCTID:763351003 {source="MONDO:equivalentTo"}
xref: UMLS:C4706415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636182"}
is_a: MONDO:0015244 {source="DOID:0080058", source="MONDO:Redundant", source="Orphanet:352403"} ! autosomal recessive cerebellar ataxia
intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11276 ! SPTBN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11276 {source="MONDO:mim2gene_medgen"} ! SPTBN2

[Term]
id: MONDO:0014160
name: TCR-alpha-beta-positive T-cell deficiency
def: "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta." [DOID:0111977, https://orcid.org/0000-0003-4062-6158, OMIM:615387]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17646", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397959"}
subset: orphanet_rare {source="Orphanet:397959"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD7" EXACT ABBREVIATION [DOID:0111977, OMIM:615387]
synonym: "immunodeficiency 7" RELATED [OMIM:615387]
synonym: "immunodeficiency 7, TCR-alpha/beta deficient" EXACT [DOID:0111977, OMIM:615387]
synonym: "T-cell receptor-ALPHA/BETA deficiency" RELATED [OMIM:615387]
synonym: "TCR-alpha-beta+ T-cell deficiency" EXACT [Orphanet:397959]
synonym: "TCR-Alpha/Beta deficiency" RELATED [OMIM:615387]
xref: DOID:0111977 {source="MONDO:equivalentTo"}
xref: GARD:17646 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:397959/attributed", source="Orphanet:397959/ntbt", source="Orphanet:397959"}
xref: MEDGEN:815662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615387 {source="Orphanet:397959/e", source="MONDO:equivalentTo", source="Orphanet:397959"}
xref: Orphanet:397959 {source="MONDO:equivalentTo", source="OMIM:615387"}
xref: UMLS:C3809332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815662"}
is_a: MONDO:0018814 {source="Orphanet:397959", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12029 {source="MONDO:mim2gene_medgen"} ! TRAC

[Term]
id: MONDO:0014161
name: vesicoureteral reflux 7
subset: gard_rare {source="GARD:18424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "vesicoureteral reflux 7" EXACT [MONDO:Lexical, OMIM:615390]
synonym: "VUR7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615390]
xref: GARD:18424 {source="MONDO:GARD"}
xref: MEDGEN:815667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615390 {source="MONDO:equivalentTo"}
xref: Orphanet:289365 {source="OMIM:615390"}
xref: UMLS:C3809337 {source="MEDGEN:815667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:615390", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux

[Term]
id: MONDO:0014162
name: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
def: "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life." [Orphanet:352563]
subset: gard_rare {source="GARD:12892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352563"}
subset: orphanet_rare {source="Orphanet:352563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation defect type 16" EXACT [Orphanet:352563]
synonym: "combined oxidative phosphorylation deficiency 16" RELATED [MONDO:Lexical, OMIM:615395]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL44" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 16" EXACT [MONDORULE:2, OMIM:615395]
synonym: "COXPD16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615395, Orphanet:352563]
synonym: "MRPL44 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111469 {source="MONDO:equivalentTo"}
xref: GARD:12892 {source="MONDO:GARD"}
xref: ICD10CM:I42.2 {source="Orphanet:352563/attributed", source="Orphanet:352563/ntbt", source="Orphanet:352563"}
xref: MEDGEN:815669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615395 {source="Orphanet:352563", source="MONDO:equivalentTo", source="Orphanet:352563/e"}
xref: Orphanet:352563 {source="MONDO:equivalentTo", source="OMIM:615395"}
xref: UMLS:C3809339 {source="MEDGEN:815669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:615395", source="MONDO:Redundant", source="OMIM:615395"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16650 {source="MONDO:mim2gene_medgen"} ! MRPL44
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16650 {source="MONDO:mim2gene_medgen"} ! MRPL44

[Term]
id: MONDO:0014163
name: left ventricular noncompaction 10
def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1Mm" RELATED [OMIM:615396]
synonym: "left ventricular noncompaction 10" EXACT [MONDO:Lexical, OMIM:615396]
synonym: "left ventricular noncompaction caused by mutation in MYBPC3" EXACT [MONDO:design_pattern]
synonym: "left ventricular noncompaction type 10" EXACT [MONDORULE:2, OMIM:615396]
synonym: "LVNC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615396]
synonym: "MYBPC3 left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15956 {source="MONDO:GARD"}
xref: MEDGEN:811617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615396 {source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:615396"}
xref: Orphanet:54260 {source="OMIM:615396"}
xref: UMLS:C3715165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811617"}
is_a: MONDO:0018901 {source="DC-OMIM:615396", source="MONDO:Redundant", source="OMIM:615396"} ! left ventricular noncompaction
intersection_of: MONDO:0018901 ! left ventricular noncompaction
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 ! MYBPC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 {source="MONDO:mim2gene_medgen"} ! MYBPC3

[Term]
id: MONDO:0014164
name: Meckel syndrome, type 11
def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15957", source="MONDO:GARD"}
subset: rare
synonym: "meckel syndrome 11" EXACT [OMIM:615397, OMIM:genemap2]
synonym: "Meckel syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern]
synonym: "Meckel syndrome, type 11" EXACT [MONDO:Lexical, OMIM:615397]
synonym: "MKS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615397]
synonym: "TMEM231 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15957 {source="MONDO:GARD"}
xref: MEDGEN:815682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615397 {source="MONDO:equivalentTo"}
xref: Orphanet:564 {source="OMIM:615397"}
xref: UMLS:C3809352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815682"}
is_a: MONDO:0018921 {source="DC-OMIM:615397", source="MONDO:Redundant", source="OMIM:615397"} ! Meckel syndrome
intersection_of: MONDO:0018921 ! Meckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37234 ! TMEM231
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37234 {source="MONDO:mim2gene_medgen"} ! TMEM231
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014165
name: multiple congenital anomalies-hypotonia-seizures syndrome 3
def: "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." [https://orcid.org/0000-0001-5208-3432, Orphanet:369837]
subset: gard_rare {source="GARD:17584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369837"}
subset: ordo_malformation_syndrome {source="Orphanet:369837"}
subset: orphanet_rare {source="Orphanet:369837"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital disorder of glycosylation due to PIGT deficiency" EXACT [Orphanet:369837]
synonym: "glycosylphosphatidylinositol biosynthesis defect 7" RELATED [OMIM:615398]
synonym: "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome" RELATED [Orphanet:369837]
synonym: "LFSS" EXACT ABBREVIATION [OMIM:603530]
synonym: "light fixation seizure syndrome" EXACT [OMIM:603530]
synonym: "M syndrome" RELATED [OMIM:603530]
synonym: "MCAHS type 3" EXACT [Orphanet:369837]
synonym: "MCAHS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615398]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 3" EXACT [MONDO:Lexical, OMIM:615398]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 3" EXACT [DOID:0080140, MONDORULE:1, OMIM:615398]
synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" EXACT [MONDO:design_pattern]
synonym: "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PIGT-CDG" EXACT [Orphanet:369837]
xref: DOID:0080140 {source="MONDO:equivalentTo"}
xref: GARD:17584 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:369837", source="Orphanet:369837/attributed", source="Orphanet:369837/ntbt"}
xref: MEDGEN:815686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566367 {source="MONDO:equivalentTo"}
xref: OMIM:603530 {source="MONDO:equivalentObsolete"}
xref: OMIM:615398 {source="DOID:0080140", source="MONDO:equivalentTo", source="Orphanet:369837", source="Orphanet:369837/e"}
xref: Orphanet:369837 {source="MONDO:equivalentTo", source="OMIM:615398"}
xref: UMLS:C3809356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815686"}
is_a: MONDO:0003847 {source="MESH:C566367/inferred"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0017748 {source="Orphanet:369837"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:369837"} ! multiple congenital anomalies-hypotonia-seizures syndrome
intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14938 ! PIGT
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369837", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019699 {source="Orphanet:369837", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete slender bone dysplasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14938 {source="MONDO:mim2gene_medgen"} ! PIGT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6289" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0014166
name: paroxysmal nocturnal hemoglobinuria 2
def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15958", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paroxysmal nocturnal hemoglobinuria 2" EXACT [MONDO:Lexical, OMIM:615399]
synonym: "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation" EXACT [OMIM:615399, OMIM:genemap2]
synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT" EXACT [MONDO:design_pattern]
synonym: "paroxysmal nocturnal hemoglobinuria type 2" EXACT [MONDORULE:1, OMIM:615399]
synonym: "PIGT paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PNH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615399]
xref: GARD:15958 {source="MONDO:GARD"}
xref: MEDGEN:815699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615399 {source="MONDO:equivalentTo"}
xref: Orphanet:447 {source="OMIM:615399"}
xref: UMLS:C3809369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815699"}
is_a: MONDO:0100244 {source="DC-OMIM:615399", source="MONDO:Redundant", source="OMIM:615399"} ! paroxysmal nocturnal hemoglobinuria
intersection_of: MONDO:0100244 ! paroxysmal nocturnal hemoglobinuria
intersection_of: RO:0004004 http://identifiers.org/hgnc/14938 ! has material basis in somatic mutation in PIGT
relationship: RO:0004004 http://identifiers.org/hgnc/14938 {source="MONDO:mim2gene_medgen"} ! has material basis in somatic mutation in PIGT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014167
name: epilepsy, familial adult myoclonic, 5
def: "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18086", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CNTN2 epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cortical myoclonic tremor with epilepsy, familial, 5" RELATED [OMIM:615400]
synonym: "epilepsy, familial adult myoclonic caused by mutation in CNTN2" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial ADULT myoclonic, 5" RELATED [OMIM:615400]
synonym: "epilepsy, familial adult myoclonic, 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615400]
synonym: "epilepsy, familial adult myoclonic, type 5" EXACT [MONDORULE:1, OMIM:615400]
synonym: "epilepsy, myoclonic, familial adult, 5" EXACT [OMIM:615400, OMIM:genemap2]
synonym: "FAME5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615400]
xref: DOID:0111691 {source="MONDO:equivalentTo"}
xref: GARD:18086 {source="MONDO:GARD"}
xref: MEDGEN:815704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615400 {source="MONDO:equivalentTo"}
xref: Orphanet:86814 {source="OMIM:615400"}
xref: UMLS:C3809374 {source="MEDGEN:815704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000160 {source="DC-OMIM:615400", source="MONDO:Redundant", source="OMIM:615400"} ! epilepsy, familial adult myoclonic
intersection_of: MONDO:0000160 ! epilepsy, familial adult myoclonic
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2172 ! CNTN2
relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2172 {source="MONDO:mim2gene_medgen"} ! CNTN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014168
name: severe combined immunodeficiency due to CORO1A deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228003"}
subset: orphanet_rare {source="Orphanet:228003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coronin-1A deficiency" EXACT [MONDO:0000579]
synonym: "IMD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615401]
synonym: "immunodeficiency 8" RELATED [MONDO:Lexical, OMIM:615401]
synonym: "immunodeficiency type 8" EXACT [MONDORULE:1, OMIM:615401]
synonym: "SCID due to CORO1A deficiency" EXACT [Orphanet:228003]
synonym: "SCID due to coronin-1A deficiency" EXACT [Orphanet:228003]
synonym: "severe combined immunodeficiency due to CORO1A deficiency" EXACT CLINGEN_LABEL []
synonym: "severe combined immunodeficiency due to coronin-1A deficiency" EXACT [Orphanet:228003]
xref: DOID:0060019 {source="MONDO:equivalentTo"}
xref: GARD:17144 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:228003/attributed", source="Orphanet:228003/ntbt", source="Orphanet:228003"}
xref: MEDGEN:815713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615401 {source="Orphanet:228003/e", source="MONDO:equivalentTo", source="Orphanet:228003"}
xref: Orphanet:228003 {source="OMIM:615401", source="MONDO:equivalentTo"}
xref: UMLS:C3809383 {source="MEDGEN:815713", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015974 {source="DOID:0060019", source="Orphanet:228003/inferred"} ! severe combined immunodeficiency
is_a: MONDO:0044200 {source="Orphanet:228003", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2252 {source="MONDO:mim2gene_medgen"} ! CORO1A

[Term]
id: MONDO:0014169
name: dyschromatosis universalis hereditaria 3
def: "Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15959", source="MONDO:GARD"}
subset: rare
synonym: "ABCB6 dyschromatosis universalis hereditaria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DUH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615402]
synonym: "dyschromatosis universalis hereditaria 3" EXACT [MONDO:Lexical, OMIM:615402]
synonym: "dyschromatosis universalis hereditaria caused by mutation in ABCB6" EXACT [MONDO:design_pattern]
synonym: "dyschromatosis universalis hereditaria type 3" EXACT [MONDORULE:1, OMIM:615402]
xref: GARD:15959 {source="MONDO:GARD"}
xref: MEDGEN:815724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615402 {source="MONDO:equivalentTo"}
xref: Orphanet:241 {source="OMIM:615402"}
xref: UMLS:C3809394 {source="MEDGEN:815724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:615402", source="Orphanet:241/btnt"} ! dyschromatosis universalis hereditaria
intersection_of: MONDO:0000736 ! dyschromatosis universalis hereditaria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 ! ABCB6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/47 {source="MONDO:mim2gene_medgen"} ! ABCB6

[Term]
id: MONDO:0014170
name: complex cortical dysplasia with other brain malformations 3
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM3" EXACT ABBREVIATION [DOID:0090134, MONDO:Lexical, OMIM:615411]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in KIF2A" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 3" EXACT [DOID:0090134, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 3" RELATED [MONDO:Lexical, OMIM:615411]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 3" EXACT [MONDORULE:1, OMIM:615411]
synonym: "KIF2A complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090134 {source="MONDO:equivalentTo"}
xref: MEDGEN:815744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615411 {source="MONDO:equivalentTo", source="DOID:0090134"}
xref: UMLS:C3809414 {source="MEDGEN:815744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000904 {source="DOID:0090134", source="MONDO:Redundant", source="OMIM:615411"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6318 ! KIF2A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6318 {source="MONDO:mim2gene_medgen"} ! KIF2A

[Term]
id: MONDO:0014171
name: complex cortical dysplasia with other brain malformations 4
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM4" EXACT ABBREVIATION [DOID:0090138, MONDO:Lexical, OMIM:615412]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBG1" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 4" EXACT [DOID:0090138, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 4" RELATED [MONDO:Lexical, OMIM:615412]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 4" EXACT [MONDORULE:1, OMIM:615412]
synonym: "TUBG1 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090138 {source="MONDO:equivalentTo"}
xref: MEDGEN:815750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615412 {source="MONDO:equivalentTo", source="DOID:0090138"}
xref: UMLS:C3809420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815750"}
is_a: MONDO:0000904 {source="DOID:0090138", source="MONDO:Redundant", source="OMIM:615412"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12417 ! TUBG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12417 {source="MONDO:mim2gene_medgen"} ! TUBG1

[Term]
id: MONDO:0014172
name: spermatogenic failure 12
def: "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15960", source="MONDO:GARD"}
subset: rare
synonym: "azoospermia caused by mutation in NANOS1" EXACT [MONDO:design_pattern]
synonym: "NANOS1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 12" EXACT [MONDO:Lexical, OMIM:615413]
synonym: "spermatogenic failure type 12" EXACT [MONDORULE:2, OMIM:615413]
synonym: "SPGF12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615413]
xref: DOID:0070171 {source="MONDO:equivalentTo"}
xref: GARD:15960 {source="MONDO:GARD"}
xref: MEDGEN:815757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615413 {source="MONDO:equivalentTo"}
xref: Orphanet:399805 {source="OMIM:615413"}
xref: Orphanet:399808 {source="OMIM:615413"}
xref: UMLS:C3809427 {source="MEDGEN:815757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:615413", source="MONDO:Redundant", source="OMIM:615413"} ! spermatogenic failure
is_a: MONDO:0018394 {source="Orphanet:399808/btnt"} ! male infertility with teratozoospermia due to single gene mutation
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23044 ! NANOS1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23044 ! NANOS1
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23044 {source="MONDO:mim2gene_medgen"} ! NANOS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23044 {source="MONDO:mim2gene_medgen"} ! NANOS1

[Term]
id: MONDO:0014173
name: microcephaly 11, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in PHC1" EXACT [MONDO:design_pattern]
synonym: "MCPH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615414]
synonym: "microcephaly 11, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615414]
synonym: "PHC1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070287 {source="MONDO:equivalentTo"}
xref: MEDGEN:815761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615414 {source="MONDO:equivalentTo"}
xref: UMLS:C3809431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815761"}
is_a: MONDO:0016660 {source="DC-OMIM:615414", source="MONDO:Redundant", source="OMIM:615414"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3182 ! PHC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3182 {source="MONDO:mim2gene_medgen"} ! PHC1

[Term]
id: MONDO:0014174
name: renal-hepatic-pancreatic dysplasia 2
def: "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18432", source="MONDO:GARD"}
subset: rare
synonym: "NEK8 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "renal-hepatic-pancreatic dysplasia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615415]
synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NEK8" EXACT [MONDO:design_pattern]
synonym: "renal-hepatic-pancreatic dysplasia type 2" EXACT [MONDORULE:1, OMIM:615415]
synonym: "RHPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615415]
xref: GARD:18432 {source="MONDO:GARD"}
xref: MEDGEN:815764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615415 {source="MONDO:equivalentTo"}
xref: Orphanet:294415 {source="OMIM:615415"}
xref: UMLS:C3809434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815764"}
is_a: MONDO:0017417 {source="DC-OMIM:615415", source="MONDO:Redundant", source="OMIM:615415"} ! renal-hepatic-pancreatic dysplasia
intersection_of: MONDO:0017417 ! renal-hepatic-pancreatic dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13387 ! NEK8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13387 {source="MONDO:mim2gene_medgen"} ! NEK8

[Term]
id: MONDO:0014175
name: mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
def: "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." [NCIT:C129977]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15961", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial DNA depletion syndrome 12" EXACT CLINGEN_LABEL []
synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" RELATED [MONDO:Lexical, OMIM:615418]
synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" EXACT [OMIM:615418, OMIM:genemap2]
synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR" EXACT [OMIM:615418]
synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" EXACT [OMIM:615418]
synonym: "mitochondrial DNA depletion syndrome type 12" RELATED [DOID:0080130, MONDORULE:2]
synonym: "MTDPS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615418]
synonym: "MTDPS12B" EXACT ABBREVIATION [OMIM:615418]
xref: DOID:0080130 {source="MONDO:directSiblingOf"}
xref: DOID:0080335 {source="MONDO:equivalentTo"}
xref: GARD:15961 {source="MONDO:GARD"}
xref: MEDGEN:815773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129977 {source="MONDO:equivalentTo"}
xref: OMIM:615418 {source="DOID:0080130", source="MONDO:equivalentTo", source="DOID:0080335"}
xref: Orphanet:1369 {source="OMIM:615418"}
xref: UMLS:C3809443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815773"}
is_a: MONDO:0004069 {source="DOID:0080335"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0018158 {source="DC-OMIM:615418", source="MONDO:Redundant", source="OMIM:615418"} ! mitochondrial DNA depletion syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 {source="MONDO:mim2gene_medgen"} ! SLC25A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014176
name: hypotonia, infantile, with psychomotor retardation and characteristic facies
def: "A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)." [Orphanet:371364]
subset: gard_rare {source="GARD:17609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:371364"}
subset: orphanet_rare {source="Orphanet:371364"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:Lexical, OMIM:615419]
synonym: "hypotonia-speech impairment-severe cognitive delay syndrome" EXACT [MONDO:0018297]
synonym: "IHPRF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615419]
synonym: "IHPRF syndrome" EXACT [Orphanet:371364]
synonym: "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" EXACT [Orphanet:371364]
xref: GARD:17609 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:371364", source="Orphanet:371364/attributed", source="Orphanet:371364/ntbt"}
xref: MEDGEN:1642314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:615419 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:371364 {source="MONDO:equivalentTo", source="OMIM:615419"}
xref: UMLS:C4706556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642314"}
is_a: MONDO:0005559 {source="Orphanet:371364"} ! neurodegenerative disease
is_a: MONDO:0015159 {source="Orphanet:371364"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:371364"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:371364", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015918", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:615419"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014177
name: myopia 22, autosomal dominant
synonym: "myopia 22, autosomal dominant" EXACT [MONDO:Lexical, OMIM:615420]
synonym: "MYP22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615420]
xref: MEDGEN:815794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615420 {source="MONDO:equivalentTo"}
xref: UMLS:C3809464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815794"}
is_a: MONDO:0001384 {source="DC-OMIM:615420", source="OMIM:615420"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26575 {source="MONDO:mim2gene_medgen"} ! PRIMPOL

[Term]
id: MONDO:0014178
name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15962", source="MONDO:GARD"}
subset: rare
synonym: "HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IBMPFD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615422]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" EXACT [MONDO:Lexical, OMIM:615422]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2" EXACT [MONDORULE:1, OMIM:615422]
synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1" EXACT [MONDO:design_pattern]
synonym: "multisystem Proteinopathy 2" RELATED [OMIM:615422]
xref: DOID:0111384 {source="MONDO:equivalentTo"}
xref: GARD:15962 {source="MONDO:GARD"}
xref: MEDGEN:815798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615422 {source="MONDO:equivalentTo"}
xref: Orphanet:52430 {source="OMIM:615422"}
xref: UMLS:C3809468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815798"}
is_a: MONDO:0000507 {source="MONDO:Redundant", source="OMIM:615422", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
intersection_of: MONDO:0000507 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5033 ! HNRNPA2B1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5033 {source="MONDO:mim2gene_medgen"} ! HNRNPA2B1

[Term]
id: MONDO:0014179
name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15963", source="MONDO:GARD"}
subset: rare
synonym: "HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IBMPFD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615424]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" EXACT [MONDO:Lexical, OMIM:615424]
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3" EXACT [MONDORULE:1, OMIM:615424]
synonym: "inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3" EXACT [OMIM:615424, OMIM:genemap2]
synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern]
synonym: "multisystem Proteinopathy 3" RELATED [OMIM:615424]
xref: DOID:0111386 {source="MONDO:equivalentTo"}
xref: GARD:15963 {source="MONDO:GARD"}
xref: MEDGEN:815799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615424 {source="MONDO:equivalentTo"}
xref: Orphanet:52430 {source="OMIM:615424"}
xref: UMLS:C3809469 {source="MEDGEN:815799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000507 {source="MONDO:Redundant", source="OMIM:615424", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
intersection_of: MONDO:0000507 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 ! HNRNPA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 {source="MONDO:mim2gene_medgen"} ! HNRNPA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014180
name: epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
subset: gard_rare {source="GARD:17690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412181"}
subset: orphanet_rare {source="Orphanet:412181"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DST-related epidermolysis bullosa simplex" EXACT [Orphanet:412181]
synonym: "EBS-AR BP230" EXACT [Orphanet:412181]
synonym: "EBSB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615425]
synonym: "epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency" EXACT OMO:0003005 []
synonym: "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" EXACT [OMIM:615425, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex due to BP230 deficiency" EXACT [Orphanet:412181]
synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:615425]
synonym: "epidermolysis bullosa simplex, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615425]
xref: GARD:17690 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:412181", source="Orphanet:412181/attributed", source="Orphanet:412181/ntbt"}
xref: MEDGEN:815800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615425 {source="MONDO:equivalentTo", source="Orphanet:412181", source="Orphanet:412181/e"}
xref: Orphanet:412181 {source="OMIM:615425", source="MONDO:equivalentTo"}
xref: UMLS:C3809470 {source="MEDGEN:815800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1090 {source="MONDO:mim2gene_medgen"} ! DST
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014181
name: amyotrophic lateral sclerosis type 20
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS20" EXACT ABBREVIATION [DOID:0060211, MONDO:Lexical, OMIM:615426]
synonym: "amyotrophic lateral sclerosis 20" EXACT [DOID:0060211, MONDO:Lexical, OMIM:615426]
synonym: "amyotrophic lateral sclerosis caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 20" EXACT [MONDORULE:2, OMIM:615426]
synonym: "HNRNPA1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060211 {source="MONDO:equivalentTo"}
xref: GARD:15964 {source="MONDO:GARD"}
xref: MEDGEN:811608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615426 {source="DOID:0060211", source="MONDO:equivalentTo"}
xref: Orphanet:803 {source="OMIM:615426"}
xref: UMLS:C3715156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811608"}
is_a: MONDO:0005144 {source="DOID:0060211", source="MONDO:Redundant", source="OMIM:615426"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 ! HNRNPA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 {source="MONDO:mim2gene_medgen"} ! HNRNPA1

[Term]
id: MONDO:0014182
name: autosomal recessive nonsyndromic hearing loss 88
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 88" NARROW [DOID:0110533]
synonym: "autosomal recessive nonsyndromic deafness 88" NARROW [OMIM:615429]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 88" NARROW [DOID:0110533, MONDORULE:2]
synonym: "deafness, autosomal recessive 88" NARROW [MONDO:Lexical, OMIM:615429, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 88" NARROW [MONDORULE:2, OMIM:615429]
synonym: "DFNB88" NARROW ABBREVIATION [DOID:0110533, MONDO:Lexical, OMIM:615429]
synonym: "ELMOD3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110533 {source="MONDO:equivalentTo"}
xref: GARD:22649 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110533"}
xref: MEDGEN:811084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615429 {source="DOID:0110533", source="MONDO:equivalentTo"}
xref: UMLS:C2829267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811084"}
is_a: MONDO:0019588 {source="DC-OMIM:615429", source="DOID:0110533", source="MONDO:Redundant", source="OMIM:615429"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26158 ! ELMOD3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26158 {source="MONDO:mim2gene_medgen"} ! ELMOD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014183
name: myopia 23, autosomal recessive
subset: gard_rare {source="GARD:18198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "myopia 23, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615431]
synonym: "MYP23" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615431]
xref: GARD:18198 {source="MONDO:GARD"}
xref: MEDGEN:815812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615431 {source="MONDO:equivalentTo"}
xref: Orphanet:98619 {source="OMIM:615431"}
xref: UMLS:C3809482 {source="MEDGEN:815812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:615431", source="MONDO:Redundant", source="OMIM:615431", source="Orphanet:98619/btnt"} ! myopia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020207"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6701 {source="MONDO:mim2gene_medgen"} ! LRPAP1

[Term]
id: MONDO:0014184
name: specific language impairment 5
def: "A communication disorder that involves the processing of linguistic information." []
subset: otar {source="MONDO:OTAR"}
synonym: "SLI5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615432]
synonym: "specific language impairment 5" EXACT [OMIM:615432]
synonym: "specific language impairment type 5" EXACT [MONDORULE:1, OMIM:615432]
xref: EFO:0005425 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:815813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615432 {source="EFO:0005425", source="MONDO:equivalentTo"}
xref: UMLS:C3809483 {source="MEDGEN:815813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000724 {source="DC-OMIM:615432", source="OMIM:615432"} ! specific language impairment
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26230 {source="MONDO:mim2gene_medgen"} ! TM4SF20

[Term]
id: MONDO:0014185
name: chromosome 3q13.31 deletion syndrome
def: "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present." [Orphanet:1621]
subset: gard_rare {source="GARD:16573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1621"}
subset: ordo_malformation_syndrome {source="Orphanet:1621"}
subset: orphanet_rare {source="Orphanet:1621"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3q13 microdeletion syndrome" EXACT [DOID:0060418]
synonym: "chromosome 3q13.31 deletion syndrome" EXACT [OMIM:615433]
synonym: "Del(3)(q13)" EXACT [Orphanet:1621]
synonym: "monosomy 3q13" EXACT [DOID:0060418, Orphanet:1621]
xref: DOID:0060418 {source="MONDO:equivalentTo"}
xref: GARD:16573 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1621", source="Orphanet:1621/attributed", source="Orphanet:1621/ntbt"}
xref: MEDGEN:815820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536808 {source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"}
xref: OMIM:615433 {source="MONDO:equivalentTo", source="Orphanet:1621", source="DOID:0060418", source="Orphanet:1621/e"}
xref: Orphanet:1621 {source="OMIM:615433", source="MONDO:equivalentTo", source="DOID:0060418"}
xref: SCTID:726705007 {source="MONDO:equivalentTo"}
xref: UMLS:C3809490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815820"}
is_a: MONDO:0000761 {source="DC-OMIM:615433", source="DOID:0060418"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016902 {source="Orphanet:1621"} ! partial deletion of the long arm of chromosome 3
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr3q13.31 ! 3q13.31 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0014186
name: retinitis pigmentosa with or without situs inversus
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15965", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARL2BP retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa caused by mutation in ARL2BP" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa with or without situs inversus" EXACT CLINGEN_LABEL [OMIM:615434]
xref: DOID:0110419 {source="MONDO:equivalentTo"}
xref: GARD:15965 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110419"}
xref: MEDGEN:1658130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615434 {source="DOID:0110419", source="MONDO:equivalentTo"}
xref: UMLS:C4747737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1658130"}
is_a: MONDO:0019200 {source="DC-OMIM:615434", source="DOID:0110419", source="MONDO:Entailed", source="MONDO:Redundant"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17146 ! ARL2BP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17146 {source="MONDO:mim2gene_medgen"} ! ARL2BP

[Term]
id: MONDO:0014187
name: aortic aneurysm, familial thoracic 8
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615436]
synonym: "aortic aneurysm, familial thoracic 8" EXACT [MONDO:Lexical, OMIM:615436]
synonym: "aortic aneurysm, familial thoracic type 8" EXACT [MONDORULE:1, OMIM:615436]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1" EXACT [MONDO:design_pattern]
synonym: "PRKG1 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15966 {source="MONDO:GARD"}
xref: MEDGEN:815843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615436 {source="MONDO:equivalentTo"}
xref: Orphanet:91387 {source="OMIM:615436"}
xref: UMLS:C3809513 {source="MEDGEN:815843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:615436", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9414 ! PRKG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9414 {source="MONDO:mim2gene_medgen"} ! PRKG1

[Term]
id: MONDO:0014188
name: obsolete MONDO:0014188
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024568

[Term]
id: MONDO:0014189
name: age related macular degeneration 13
def: "An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "age related macular degeneration type 13" EXACT [DOID:0110025, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in CFI" EXACT [MONDO:design_pattern]
synonym: "ARMD13" EXACT ABBREVIATION [DOID:0110025, MONDO:Lexical, OMIM:615439]
synonym: "CFI age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 13" RELATED [MONDO:Lexical, OMIM:615439]
synonym: "macular degeneration, age-related, 13, susceptibility to" EXACT [OMIM:615439, OMIM:genemap2]
synonym: "macular degeneration, age-related, type 13" EXACT [MONDORULE:2, OMIM:615439]
xref: DOID:0110025 {source="MONDO:equivalentTo"}
xref: MEDGEN:815853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615439 {source="MONDO:equivalentTo", source="DOID:0110025"}
xref: UMLS:C3809523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815853"}
is_a: MONDO:0100174 {source="OMIM:615439"} ! age related macular degeneration, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5394 ! CFI
intersection_of: predisposes_towards MONDO:0005150 ! age-related macular degeneration
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005150 {source="DC-OMIM:615439", source="DOID:0110025", source="OMIM:615439", source="https://orcid.org/0000-0001-5208-3432"} ! age-related macular degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5394 {source="MONDO:mim2gene_medgen"} ! CFI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014190
name: combined oxidative phosphorylation defect type 17
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369913"}
subset: orphanet_rare {source="Orphanet:369913"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 17" RELATED [MONDO:Lexical, OMIM:615440]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in ELAC2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 17" EXACT [MONDORULE:2, OMIM:615440]
synonym: "COXPD17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615440, Orphanet:369913]
synonym: "ELAC2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111496 {source="MONDO:equivalentTo"}
xref: GARD:17589 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:369913", source="Orphanet:369913/attributed", source="Orphanet:369913/ntbt"}
xref: MEDGEN:815856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615440 {source="MONDO:equivalentTo", source="Orphanet:369913", source="Orphanet:369913/e"}
xref: Orphanet:369913 {source="MONDO:equivalentTo", source="OMIM:615440"}
xref: UMLS:C3809526 {source="MEDGEN:815856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:615440", source="MONDO:Redundant", source="OMIM:615440"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 ! ELAC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 {source="MONDO:mim2gene_medgen"} ! ELAC2

[Term]
id: MONDO:0014191
name: catecholaminergic polymorphic ventricular tachycardia 5
def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15967", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" EXACT [OMIM:615441, OMIM:genemap2]
synonym: "catecholaminergic polymorphic ventricular tachycardia 5" EXACT CLINGEN_LABEL []
synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN" EXACT [MONDO:design_pattern]
synonym: "catecholaminergic polymorphic ventricular tachycardia type 5" EXACT [DOID:0060679, MONDORULE:1]
synonym: "CPVT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615441]
synonym: "CVPT5" EXACT ABBREVIATION [DOID:0060679]
synonym: "TRDN catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" RELATED [MONDO:Lexical, OMIM:615441]
xref: DOID:0060679 {source="MONDO:equivalentTo"}
xref: GARD:15967 {source="MONDO:GARD"}
xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060679"}
xref: MEDGEN:815866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615441 {source="MONDO:equivalentTo", source="DOID:0060679"}
xref: Orphanet:3286 {source="OMIM:615441"}
xref: UMLS:C3809536 {source="MEDGEN:815866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017990 {source="DC-OMIM:615441", source="DOID:0060679", source="MONDO:Redundant", source="OMIM:615441"} ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: MONDO:0017990 ! catecholaminergic polymorphic ventricular tachycardia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12261 ! TRDN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12261 {source="MONDO:mim2gene_medgen"} ! TRDN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014192
name: primary ciliary dyskinesia 22
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15968", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD22" EXACT ABBREVIATION [DOID:0110597, MONDO:Lexical, OMIM:615444]
synonym: "ciliary dyskinesia, primary, 22" RELATED [MONDO:Lexical, OMIM:615444]
synonym: "ciliary dyskinesia, primary, 22, with or without situs inversus" RELATED [OMIM:615444]
synonym: "ciliary dyskinesia, primary, type 22" EXACT [MONDORULE:2, OMIM:615444]
synonym: "primary ciliary dyskinesia 22 with or without situs inversus" EXACT [DOID:0110597]
synonym: "primary ciliary dyskinesia caused by mutation in ZMYND10" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 22" EXACT [DOID:0110597, MONDORULE:2]
synonym: "ZMYND10 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110597 {source="MONDO:equivalentTo"}
xref: GARD:15968 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110597"}
xref: MEDGEN:815873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615444 {source="MONDO:equivalentTo", source="DOID:0110597"}
xref: UMLS:C3809543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815873"}
is_a: MONDO:0016575 {source="DC-OMIM:615444", source="DOID:0110597", source="MONDO:Redundant", source="OMIM:615444"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19412 ! ZMYND10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19412 {source="MONDO:mim2gene_medgen"} ! ZMYND10

[Term]
id: MONDO:0014193
name: primary ciliary dyskinesia 23
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15969", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARMC4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD23" EXACT ABBREVIATION [DOID:0110609, MONDO:Lexical, OMIM:615451]
synonym: "ciliary dyskinesia, primary, 23" RELATED [MONDO:Lexical, OMIM:615451]
synonym: "ciliary dyskinesia, primary, 23, with or without situs inversus" RELATED [OMIM:615451]
synonym: "ciliary dyskinesia, primary, type 23" EXACT [MONDORULE:2, OMIM:615451]
synonym: "primary ciliary dyskinesia 23 with or without situs inversus" EXACT [DOID:0110609]
synonym: "primary ciliary dyskinesia caused by mutation in ARMC4" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 23" EXACT [DOID:0110609, MONDORULE:2]
xref: DOID:0110609 {source="MONDO:equivalentTo"}
xref: GARD:15969 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110609"}
xref: MEDGEN:815878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615451 {source="MONDO:equivalentTo", source="DOID:0110609"}
xref: Orphanet:244 {source="OMIM:615451"}
xref: UMLS:C3809548 {source="MEDGEN:815878", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:615451", source="DOID:0110609", source="MONDO:Redundant", source="OMIM:615451"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25583 ! ODAD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25583 {source="MONDO:mim2gene_medgen"} ! ODAD2

[Term]
id: MONDO:0014194
name: mitochondrial complex III deficiency nuclear type 6
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15970", source="MONDO:GARD"}
subset: rare
synonym: "CYC1 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615453]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 6" RELATED [OMIM:615453]
synonym: "mitochondrial complex III deficiency caused by mutation in CYC1" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 6" RELATED [MONDO:Lexical, OMIM:615453]
xref: DOID:0080115 {source="MONDO:equivalentTo"}
xref: GARD:15970 {source="MONDO:GARD"}
xref: MEDGEN:815883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615453 {source="MONDO:equivalentTo", source="DOID:0080115"}
xref: Orphanet:1460 {source="OMIM:615453"}
xref: UMLS:C3809553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815883"}
is_a: MONDO:0000066 {source="DC-OMIM:615453", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0015448 {source="DOID:0080115", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2579 ! CYC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2579 {source="MONDO:mim2gene_medgen"} ! CYC1

[Term]
id: MONDO:0014195
name: microcornea-myopic chorioretinal atrophy
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369970"}
subset: orphanet_rare {source="Orphanet:369970"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcornea, myopic chorioretinal atrophy, and telecanthus" RELATED [MONDO:Lexical, OMIM:615458]
synonym: "microcornea-myopic chorioretinal atrophy" EXACT CLINGEN_LABEL []
synonym: "microcornea-myopic chorioretinal atrophy-telecanthus syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2900, https://orcid.org/0000-0002-5655-9589]
synonym: "MMCAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615458]
synonym: "MMCAT syndrome" EXACT [Orphanet:369970]
xref: GARD:17593 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:369970/attributed", source="Orphanet:369970/ntbt", source="Orphanet:369970"}
xref: MEDGEN:815897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615458 {source="Orphanet:369970/e", source="MONDO:equivalentTo", source="Orphanet:369970"}
xref: Orphanet:369970 {source="OMIM:615458", source="MONDO:equivalentTo"}
xref: UMLS:C3809567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815897"}
is_a: MONDO:0019118 {source="Orphanet:369970"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17110 {source="MONDO:mim2gene_medgen"} ! ADAMTS18

[Term]
id: MONDO:0014196
name: Hartsfield-Bixler-Demyer syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2117"}
subset: ordo_malformation_syndrome {source="Orphanet:2117"}
subset: orphanet_rare {source="Orphanet:2117"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HARTSFIELD syndrome" RELATED [MONDO:Lexical, OMIM:615465]
synonym: "Hartsfield-Bixler-Demyer syndrome" EXACT CLINGEN_LABEL []
synonym: "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" RELATED [OMIM:615465]
synonym: "holoprosencephaly-ectrodactyly-cleft lip palate syndrome" EXACT [Orphanet:2117]
synonym: "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" EXACT [Orphanet:2117]
synonym: "HRTFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615465]
xref: GARD:2725 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2117", source="Orphanet:2117/attributed", source="Orphanet:2117/ntbt"}
xref: MEDGEN:335111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564484 {source="MONDO:equivalentTo"}
xref: OMIM:615465 {source="MONDO:equivalentTo", source="Orphanet:2117", source="Orphanet:2117/e"}
xref: Orphanet:2117 {source="OMIM:615465", source="MONDO:equivalentTo"}
xref: SCTID:766032007 {source="MONDO:equivalentTo"}
xref: UMLS:C1845146 {source="MEDGEN:335111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2117"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2117", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014197
name: combined immunodeficiency due to MALT1 deficiency
def: "Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections." [Orphanet:397964]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397964"}
subset: orphanet_rare {source="Orphanet:397964"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT CLINGEN_LABEL []
synonym: "IMD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615468]
synonym: "immunodeficiency 12" RELATED [MONDO:Lexical, OMIM:615468]
synonym: "immunodeficiency type 12" EXACT [MONDORULE:2, OMIM:615468]
xref: DOID:0111988 {source="MONDO:equivalentTo"}
xref: GARD:17647 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:397964", source="Orphanet:397964/attributed", source="Orphanet:397964/ntbt"}
xref: MEDGEN:815913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615468 {source="MONDO:equivalentTo", source="Orphanet:397964", source="Orphanet:397964/e"}
xref: Orphanet:397964 {source="OMIM:615468", source="MONDO:equivalentTo"}
xref: UMLS:C3809583 {source="MEDGEN:815913", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:615468"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:397964", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6819 {source="MONDO:mim2gene_medgen"} ! MALT1

[Term]
id: MONDO:0014198
name: mitochondrial DNA depletion syndrome 13
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13298", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369897"}
subset: orphanet_rare {source="Orphanet:369897"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BXL4-related early-onset mitochondrial encephalopathy" RELATED [GARD:0013298]
synonym: "encephalomyopathic mitochondrial DNA depletion syndrome-13" RELATED [GARD:0013298]
synonym: "FBXL4 deficiency" RELATED [GARD:0013298]
synonym: "FBXL4 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" RELATED [GARD:0013298]
synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" RELATED [MONDO:Lexical, OMIM:615471]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in FBXL4" EXACT [MONDO:design_pattern]
synonym: "mitochondrial DNA depletion syndrome type 13" EXACT [DOID:0080131, MONDORULE:2]
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" RELATED [Orphanet:369897]
synonym: "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" EXACT [Orphanet:369897]
synonym: "MTDPS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615471]
xref: DOID:0080131 {source="MONDO:equivalentTo"}
xref: GARD:13298 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:369897/attributed", source="Orphanet:369897/ntbt", source="Orphanet:369897"}
xref: MEDGEN:815922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C172095 {source="MONDO:equivalentTo"}
xref: OMIM:615471 {source="DOID:0080131", source="Orphanet:369897", source="MONDO:equivalentTo", source="Orphanet:369897/e"}
xref: Orphanet:369897 {source="MONDO:equivalentTo", source="OMIM:615471"}
xref: SCTID:765403009 {source="MONDO:equivalentTo"}
xref: UMLS:C3809592 {source="MEDGEN:815922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016796 {source="Orphanet:369897"} ! mitochondrial DNA depletion syndrome, encephalomyopathic form
is_a: MONDO:0018158 {source="MONDO:Redundant", source="OMIM:615471", source="Orphanet:369897/inferred"} ! mitochondrial DNA depletion syndrome
intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13601 ! FBXL4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13601 {source="MONDO:mim2gene_medgen"} ! FBXL4

[Term]
id: MONDO:0014199
name: developmental and epileptic encephalopathy, 17
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE17" EXACT ABBREVIATION [OMIM:615473]
synonym: "developmental and epileptic encephalopathy 17" EXACT [OMIM:615473, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in GNAO1" EXACT [MONDO:design_pattern]
synonym: "early infantile epileptic encephalopathy-17" EXACT [GARD:0013378]
synonym: "EIEE17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615473]
synonym: "epileptic encephalopathy, early infantile, 17" EXACT [MONDO:Lexical, OMIM:615473]
synonym: "epileptic encephalopathy, early infantile, type 17" EXACT [MONDORULE:2, OMIM:615473]
synonym: "GNAO1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GNAO1 encephalopathy" RELATED [GARD:0013378]
xref: DOID:0080450 {source="MONDO:equivalentTo"}
xref: GARD:13378 {source="MONDO:GARD"}
xref: MEDGEN:815936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615473 {source="MONDO:equivalentTo"}
xref: UMLS:C3809606 {source="MEDGEN:815936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DC-OMIM:615473", source="MONDO:Redundant", source="OMIM:615473"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4389 ! GNAO1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4389 {source="MONDO:mim2gene_medgen"} ! GNAO1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014200
name: aldosterone-producing adenoma with seizures and neurological abnormalities
subset: gard_rare {source="GARD:17591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369929"}
subset: orphanet_rare {source="Orphanet:369929"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aldosterone-secreting adenoma" RELATED [Orphanet:85142]
synonym: "aldosterone-secreting adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929]
synonym: "aldosteronoma" RELATED [Orphanet:85142]
synonym: "APA with seizures and neurological abnormalities" EXACT [Orphanet:369929]
synonym: "Conn adenoma" RELATED [Orphanet:85142]
synonym: "Conn adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929]
synonym: "PASNA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615474]
synonym: "primary aldosteronism due to Conn adenoma" RELATED [Orphanet:85142]
synonym: "primary aldosteronism, seizures, and neurologic abnormalities" EXACT [MONDO:Lexical, OMIM:615474]
xref: GARD:17591 {source="MONDO:GARD"}
xref: ICD10CM:E26.0 {source="Orphanet:369929/attributed", source="Orphanet:369929/ntbt", source="Orphanet:369929"}
xref: MEDGEN:815939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615474 {source="Orphanet:369929/e", source="MONDO:equivalentTo", source="Orphanet:369929"}
xref: Orphanet:369929 {source="MONDO:equivalentTo", source="OMIM:615474"}
xref: Orphanet:85142 {source="MONDO:relatedTo"}
xref: UMLS:C3809609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815939"}
is_a: MONDO:0001422 {source="MONDO:0016507-obsoleted"} ! primary aldosteronism
is_a: MONDO:0016525 {source="Orphanet:369929"} ! familial hyperaldosteronism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1391 {source="MONDO:mim2gene_medgen"} ! CACNA1D

[Term]
id: MONDO:0014201
name: developmental and epileptic encephalopathy, 18
subset: gard_rare {source="GARD:13676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE18" EXACT ABBREVIATION [OMIM:615476]
synonym: "developmental and epileptic encephalopathy 18" EXACT [OMIM:615476, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy without suppression burst" EXACT [OMIM:615476]
synonym: "EIEE18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615476]
synonym: "epileptic encephalopathy, early infantile, 18" EXACT [MONDO:Lexical, OMIM:615476]
synonym: "epileptic encephalopathy, early infantile, type 18" EXACT [MONDORULE:2, OMIM:615476]
xref: DOID:0080413 {source="MONDO:equivalentTo"}
xref: GARD:13676 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:369894/attributed", source="Orphanet:369894/ntbt", source="Orphanet:369894"}
xref: MEDGEN:815954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615476 {source="Orphanet:369894/e", source="MONDO:equivalentTo", source="Orphanet:369894"}
xref: Orphanet:369894 {source="OMIM:615476", source="MONDO:equivalentObsolete"}
xref: UMLS:C3809624 {source="MEDGEN:815954", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:369894"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020071 {source="Orphanet:369894"} ! infantile epilepsy syndrome
is_a: MONDO:0100062 {source="DC-OMIM:615476", source="OMIM:615476"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29040 {source="MONDO:mim2gene_medgen"} ! SZT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014202
name: primary ciliary dyskinesia 24
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD24" EXACT ABBREVIATION [DOID:0110628, MONDO:Lexical, OMIM:615481]
synonym: "ciliary dyskinesia, primary, 24" RELATED [MONDO:Lexical, OMIM:615481]
synonym: "ciliary dyskinesia, primary, 24, without situs inversus" RELATED [OMIM:615481]
synonym: "ciliary dyskinesia, primary, type 24" EXACT [MONDORULE:2, OMIM:615481]
synonym: "primary ciliary dyskinesia 24" EXACT CLINGEN_LABEL []
synonym: "primary ciliary dyskinesia 24 without situs inversus" EXACT [DOID:0110628]
synonym: "primary ciliary dyskinesia caused by mutation in RSPH1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 24" EXACT [DOID:0110628, MONDORULE:2]
synonym: "RSPH1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110628 {source="MONDO:equivalentTo"}
xref: GARD:15971 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110628"}
xref: MEDGEN:815964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615481 {source="DOID:0110628", source="MONDO:equivalentTo"}
xref: UMLS:C3809634 {source="MEDGEN:815964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:615481", source="DOID:0110628", source="MONDO:Redundant", source="OMIM:615481"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12371 ! RSPH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12371 {source="MONDO:mim2gene_medgen"} ! RSPH1

[Term]
id: MONDO:0014203
name: primary ciliary dyskinesia 25
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD25" EXACT ABBREVIATION [DOID:0110615, MONDO:Lexical, OMIM:615482]
synonym: "ciliary dyskinesia, primary, 25" RELATED [MONDO:Lexical, OMIM:615482]
synonym: "ciliary dyskinesia, primary, 25, with or without situs inversus" RELATED [OMIM:615482]
synonym: "ciliary dyskinesia, primary, type 25" EXACT [MONDORULE:2, OMIM:615482]
synonym: "DNAAF4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 25 with or without situs inversus" EXACT [DOID:0110615]
synonym: "primary ciliary dyskinesia caused by mutation in DNAAF4" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 25" EXACT [DOID:0110615, MONDORULE:2]
xref: DOID:0110615 {source="MONDO:equivalentTo"}
xref: GARD:15972 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110615"}
xref: MEDGEN:815971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615482 {source="DOID:0110615", source="MONDO:equivalentTo"}
xref: UMLS:C3809641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815971"}
is_a: MONDO:0016575 {source="DC-OMIM:615482", source="DOID:0110615", source="MONDO:Redundant", source="OMIM:615482"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21493 ! DNAAF4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21493 {source="MONDO:mim2gene_medgen"} ! DNAAF4

[Term]
id: MONDO:0014204
name: basal ganglia calcification, idiopathic, 5
subset: gard_rare {source="GARD:15973", source="MONDO:GARD"}
subset: rare
synonym: "basal ganglia calcification, idiopathic, 5" EXACT [MONDO:Lexical, OMIM:615483]
synonym: "basal ganglia calcification, idiopathic, type 5" EXACT [MONDORULE:1, OMIM:615483]
synonym: "IBGC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615483]
xref: GARD:15973 {source="MONDO:GARD"}
xref: MEDGEN:815975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615483 {source="MONDO:equivalentTo"}
xref: Orphanet:1980 {source="OMIM:615483"}
xref: UMLS:C3809645 {source="MEDGEN:815975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:615483", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis
relationship: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8800 {source="MONDO:mim2gene_medgen"} ! PDGFB

[Term]
id: MONDO:0014205
name: severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
subset: gard_rare {source="GARD:13259", source="MONDO:GARD"}
subset: nord_rare {source="NORD:139551", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352577"}
subset: orphanet_rare {source="Orphanet:352577"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASXL3-Related Disorder" EXACT [NORD:139551]
synonym: "BAINBRIDGE-ROPERS syndrome" RELATED [MONDO:Lexical, OMIM:615485]
synonym: "Bainbridge-Roppers syndrome" EXACT [Orphanet:352577]
synonym: "BRPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615485]
synonym: "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0080893 {source="MONDO:equivalentTo"}
xref: GARD:13259 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:352577", source="Orphanet:352577/attributed", source="Orphanet:352577/ntbt"}
xref: MEDGEN:1656239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:139551 {source="MONDO:NORD"}
xref: OMIM:615485 {source="MONDO:equivalentTo", source="Orphanet:352577", source="Orphanet:352577/e"}
xref: Orphanet:352577 {source="MONDO:equivalentTo", source="OMIM:615485"}
xref: UMLS:C4750837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1656239"}
is_a: MONDO:0015159 {source="Orphanet:352577"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352577", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29357 {source="MONDO:mim2gene_medgen"} ! ASXL3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014206
name: severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
subset: gard_rare {source="GARD:17746", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440427"}
subset: orphanet_rare {source="Orphanet:440427"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary pulmonary alveolar proteinosis with hepatic involvement" EXACT [Orphanet:440427]
synonym: "ILLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615486]
synonym: "infantile liver failure syndrome 2" RELATED [OMIM:615486]
synonym: "infantile liver failure syndrome 2, formerly" RELATED [OMIM:615486]
synonym: "interstitial lung and liver disease" EXACT [MONDO:Lexical, OMIM:615486, Orphanet:440427]
synonym: "PAP, Reunion island type" EXACT [Orphanet:440427]
synonym: "pulmonary alveolar proteinosis, Reunion Island" RELATED [OMIM:615486]
synonym: "pulmonary alveolar proteinosis, Reunion island type" EXACT [Orphanet:440427]
xref: GARD:17746 {source="MONDO:GARD"}
xref: ICD10CM:J84.0 {source="Orphanet:440427", source="Orphanet:440427/attributed", source="Orphanet:440427/ntbt"}
xref: MEDGEN:895551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615486 {source="Orphanet:440427/e", source="MONDO:equivalentTo", source="Orphanet:440427"}
xref: Orphanet:370088 {source="MONDO:relatedTo", source="OMIM:615486"}
xref: Orphanet:440427 {source="MONDO:equivalentTo"}
xref: UMLS:C4225400 {source="MEDGEN:895551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001437 {source="https://orcid.org/0000-0002-6601-2165"} ! pulmonary alveolar proteinosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6898 {source="MONDO:mim2gene_medgen"} ! MARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2420" xsd:anyURI

[Term]
id: MONDO:0014207
name: age related macular degeneration 14
def: "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21." [DOID:0110026, PMID:16518403]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "age related macular degeneration type 14" EXACT [DOID:0110026, MONDORULE:2]
synonym: "ARMD14" EXACT ABBREVIATION [DOID:0110026, MONDO:Lexical, OMIM:615489]
synonym: "macular degeneration, age-related, 14" RELATED [MONDO:Lexical, OMIM:615489]
synonym: "macular degeneration, age-related, 14, reduced risk of, digenic dominant" EXACT [OMIM:615489, OMIM:genemap2]
synonym: "macular Degeneration, age-related, reduced risk of" RELATED [OMIM:615489]
synonym: "macular Degeneration, age-related, type 14" EXACT [MONDORULE:2, OMIM:615489]
xref: DOID:0110026 {source="MONDO:equivalentTo"}
xref: MEDGEN:815983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615489 {source="MONDO:equivalentTo", source="DOID:0110026"}
xref: UMLS:C3809653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815983"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005150 {source="DC-OMIM:615489", source="DOID:0110026", source="OMIM:615489"} ! age-related macular degeneration
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014208
name: Charcot-Marie-Tooth disease type 2R
def: "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397968"}
subset: orphanet_rare {source="Orphanet:397968"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" EXACT [DOID:0110161]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2R" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R" RELATED [GARD:0012451, OMIM:615490]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2R" RELATED [MONDO:Lexical, OMIM:615490]
synonym: "Charcot-Marie-Tooth disease, type 2R" EXACT [OMIM:615490, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2R" EXACT [DOID:0110161]
synonym: "Charcot-Marie-Tooth neuropathy, type 2R" RELATED [OMIM:615490]
synonym: "CMT2R" EXACT ABBREVIATION [DOID:0110161, GARD:0012451, MONDO:Lexical, OMIM:615490, Orphanet:397968]
synonym: "TRIM2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110161 {source="MONDO:equivalentTo"}
xref: GARD:12451 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110161", source="Orphanet:397968/attributed", source="Orphanet:397968/ntbt", source="Orphanet:397968"}
xref: MEDGEN:815985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615490 {source="Orphanet:397968/e", source="DOID:0110161", source="MONDO:equivalentTo", source="Orphanet:397968"}
xref: Orphanet:397968 {source="DOID:0110161", source="MONDO:equivalentTo", source="OMIM:615490"}
xref: UMLS:C3809655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815985"}
is_a: MONDO:0015626 {source="DOID:0110161/inferred", source="MONDO:Redundant", source="OMIM:615490", source="Orphanet:397968/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110161", source="MONDO:Entailed", source="MONDO:Redundant"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15974 ! TRIM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15974 {source="MONDO:mim2gene_medgen"} ! TRIM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r" xsd:anyURI {source="GARD:0012451"}

[Term]
id: MONDO:0014209
name: early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
def: "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." [Orphanet:352654]
subset: gard_rare {source="GARD:17523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352654"}
subset: orphanet_rare {source="Orphanet:352654"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NDGOA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615491]
synonym: "neurodegeneration with optic atrophy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615491]
synonym: "spastic paraplegia 79, autosomal recessive" RELATED [OMIM:615491]
synonym: "SPG79" RELATED ABBREVIATION [OMIM:615491]
xref: DOID:0112344 {source="MONDO:equivalentTo"}
xref: GARD:17523 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:352654", source="Orphanet:352654/attributed", source="Orphanet:352654/ntbt"}
xref: MEDGEN:815995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615491 {source="MONDO:equivalentTo", source="Orphanet:352654", source="Orphanet:352654/e"}
xref: Orphanet:352654 {source="MONDO:equivalentTo", source="OMIM:615491"}
xref: UMLS:C3809665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815995"}
is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615491"} ! hereditary spastic paraplegia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:352654"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12513 {source="MONDO:mim2gene_medgen"} ! UCHL1

[Term]
id: MONDO:0014210
name: intellectual disability-hypotonia-spasticity-sleep disorder syndrome
subset: gard_rare {source="GARD:17541", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:356996"}
subset: orphanet_rare {source="Orphanet:356996"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, autosomal recessive 37" RELATED [MONDO:Lexical, OMIM:615493]
synonym: "intellectual disability, autosomal recessive type 37" EXACT [MONDORULE:2, OMIM:615493]
synonym: "mental retardation, autosomal recessive 37" RELATED DEPRECATED [MONDO:Lexical, OMIM:615493]
synonym: "mental retardation, autosomal recessive type 37" EXACT DEPRECATED [MONDORULE:2, OMIM:615493]
synonym: "mental retardation, autosomal recessive, 37" EXACT [OMIM:615493, OMIM:genemap2]
synonym: "MRT37" RELATED DEPRECATED [MONDO:Lexical, OMIM:615493]
xref: DOID:0081202 {source="MONDO:equivalentTo"}
xref: GARD:17541 {source="MONDO:GARD"}
xref: ICD10CM:G93.8 {source="Orphanet:356996/attributed", source="Orphanet:356996/ntbt", source="Orphanet:356996"}
xref: MEDGEN:816002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615493 {source="Orphanet:356996", source="MONDO:equivalentTo", source="Orphanet:356996/e"}
xref: Orphanet:356996 {source="MONDO:equivalentTo", source="OMIM:615493"}
xref: UMLS:C3809672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816002"}
is_a: MONDO:0000508 {source="Orphanet:356996", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/494 {source="MONDO:mim2gene_medgen"} ! ANK3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014211
name: primary ciliary dyskinesia 26
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15974", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CFAP298 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD26" EXACT ABBREVIATION [DOID:0110627, MONDO:Lexical, OMIM:615500]
synonym: "ciliary dyskinesia, primary, 26" RELATED [MONDO:Lexical, OMIM:615500]
synonym: "ciliary dyskinesia, primary, 26, with or without situs inversus" RELATED [OMIM:615500]
synonym: "ciliary dyskinesia, primary, type 26" EXACT [MONDORULE:2, OMIM:615500]
synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT [DOID:0110627]
synonym: "primary ciliary dyskinesia caused by mutation in CFAP298" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 26" EXACT [DOID:0110627, MONDORULE:2]
xref: DOID:0110627 {source="MONDO:equivalentTo"}
xref: GARD:15974 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110627"}
xref: MEDGEN:816014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615500 {source="MONDO:equivalentTo", source="DOID:0110627"}
xref: UMLS:C3809684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816014"}
is_a: MONDO:0016575 {source="DC-OMIM:615500", source="DOID:0110627", source="MONDO:Redundant", source="OMIM:615500"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1301 ! CFAP298
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1301 {source="MONDO:mim2gene_medgen"} ! CFAP298

[Term]
id: MONDO:0014212
name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
def: "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23." [DOID:0111166]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17388", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:308400"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308400"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT [DOID:0111166, Orphanet:308400]
synonym: "MOCOD type C" EXACT [DOID:0111166, Orphanet:308400]
synonym: "MOCODC" EXACT ABBREVIATION [DOID:0111166, MONDO:Lexical, OMIM:615501]
synonym: "molybdenum cofactor deficiency C" EXACT [OMIM:615501, OMIM:genemap2]
synonym: "molybdenum cofactor deficiency complementation group C" EXACT [DOID:0111166]
synonym: "molybdenum cofactor deficiency type C" RELATED [DOID:0111166]
synonym: "molybdenum cofactor deficiency, complementation group C" RELATED [MONDO:Lexical, OMIM:615501]
synonym: "molybdenum cofactor deficiency, complementation group type C" EXACT [MONDORULE:1, OMIM:615501]
xref: DOID:0111166 {source="MONDO:equivalentTo"}
xref: GARD:17388 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:308400", source="Orphanet:308400/attributed", source="Orphanet:308400/ntbt"}
xref: MEDGEN:340761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565374 {source="MONDO:equivalentTo"}
xref: OMIM:615501 {source="Orphanet:308400/e", source="MONDO:equivalentTo", source="DOID:0111166", source="Orphanet:308400"}
xref: Orphanet:308400 {source="OMIM:615501", source="MONDO:equivalentTo", source="DOID:0111166"}
xref: Orphanet:833 {source="OMIM:615501"}
xref: Orphanet:99732 {source="OMIM:615501"}
xref: PMID:11095995 {source="DOID:0111166"}
xref: UMLS:C1854990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340761"}
is_a: MONDO:0020480 {source="DOID:0111166", source="OMIM:615501", source="Orphanet:308400"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15465 {source="MONDO:mim2gene_medgen"} ! GPHN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014213
name: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
subset: gard_rare {source="GARD:17566", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363611"}
subset: orphanet_rare {source="Orphanet:363611"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 21" EXACT [DOID:0070051]
synonym: "autosomal dominant mental retardation 21" EXACT DEPRECATED [DOID:0070051]
synonym: "autosomal dominant non-syndromic intellectual disability 21" RELATED [DOID:0070051]
synonym: "intellectual disability, autosomal dominant 21" RELATED [MONDO:Lexical, OMIM:615502]
synonym: "intellectual disability, autosomal dominant type 21" EXACT [MONDORULE:2, OMIM:615502]
synonym: "mental retardation, autosomal dominant 21" RELATED DEPRECATED [MONDO:Lexical, OMIM:615502]
synonym: "mental retardation, autosomal dominant type 21" EXACT DEPRECATED [MONDORULE:2, OMIM:615502]
synonym: "MRD21" EXACT ABBREVIATION [DOID:0070051, MONDO:Lexical, OMIM:615502]
xref: DOID:0070051 {source="MONDO:equivalentTo"}
xref: GARD:17566 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:363611", source="Orphanet:363611/attributed", source="Orphanet:363611/ntbt"}
xref: MEDGEN:816016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615502 {source="MONDO:equivalentTo", source="Orphanet:363611", source="DOID:0070051", source="Orphanet:363611/e"}
xref: Orphanet:363611 {source="OMIM:615502", source="MONDO:equivalentTo"}
xref: UMLS:C3809686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816016"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363611", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:363611"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070051", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13723 {source="MONDO:mim2gene_medgen"} ! CTCF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014214
name: short-rib thoracic dysplasia 8 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." [DOID:0110094, PMID:23910462]
subset: gard_rare {source="GARD:15975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short rib-polydactyly syndrome type VI" EXACT [DOID:0110094]
synonym: "short rib-polydactyly syndrome, type 6" RELATED [OMIM:615503]
synonym: "short-rib thoracic dysplasia 8 with or without polydactyly" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615503]
synonym: "SRPS6" EXACT ABBREVIATION [DOID:0110094]
synonym: "SRTD8" EXACT ABBREVIATION [DOID:0110094, MONDO:Lexical, OMIM:615503]
xref: DOID:0110094 {source="MONDO:equivalentTo"}
xref: GARD:15975 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110094"}
xref: MEDGEN:816021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615503 {source="MONDO:equivalentTo", source="DOID:0110094"}
xref: Orphanet:93271 {source="OMIM:615503"}
xref: UMLS:C3809691 {source="MEDGEN:816021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018770 {source="DOID:0110094", source="OMIM:615503"} ! Jeune syndrome
relationship: excluded_subClassOf MONDO:0013127 {source="Orphanet:93271/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! asphyxiating thoracic dystrophy 3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21862 {source="MONDO:mim2gene_medgen"} ! DYNC2I1

[Term]
id: MONDO:0014215
name: primary ciliary dyskinesia 27
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15976", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCDC65 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD27" EXACT ABBREVIATION [DOID:0110611, MONDO:Lexical, OMIM:615504]
synonym: "ciliary dyskinesia, primary, 27" RELATED [MONDO:Lexical, OMIM:615504]
synonym: "ciliary dyskinesia, primary, 27, without situs inversus" RELATED [OMIM:615504]
synonym: "ciliary dyskinesia, primary, type 27" EXACT [MONDORULE:2, OMIM:615504]
synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT [DOID:0110611]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC65" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 27" EXACT [DOID:0110611, MONDORULE:2]
xref: DOID:0110611 {source="MONDO:equivalentTo"}
xref: GARD:15976 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110611"}
xref: MEDGEN:816031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615504 {source="DOID:0110611", source="MONDO:equivalentTo"}
xref: UMLS:C3809701 {source="MONDO:equivalentTo", source="MEDGEN:816031", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:615504", source="DOID:0110611", source="MONDO:Redundant", source="OMIM:615504"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29937 ! CCDC65
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29937 {source="MONDO:mim2gene_medgen"} ! CCDC65

[Term]
id: MONDO:0014216
name: primary ciliary dyskinesia 28
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15977", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD28" EXACT ABBREVIATION [DOID:0110607, MONDO:Lexical, OMIM:615505]
synonym: "ciliary dyskinesia, primary, 28" RELATED [MONDO:Lexical, OMIM:615505]
synonym: "ciliary dyskinesia, primary, 28, with or without situs inversus" RELATED [OMIM:615505]
synonym: "ciliary dyskinesia, primary, type 28" EXACT [MONDORULE:2, OMIM:615505]
synonym: "primary ciliary dyskinesia 28 with or without situs inversus" EXACT [DOID:0110607]
synonym: "primary ciliary dyskinesia caused by mutation in SPAG1" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 28" EXACT [DOID:0110607, MONDORULE:2]
synonym: "SPAG1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110607 {source="MONDO:equivalentTo"}
xref: GARD:15977 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110607"}
xref: MEDGEN:816036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615505 {source="MONDO:equivalentTo", source="DOID:0110607"}
xref: UMLS:C3809706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816036"}
is_a: MONDO:0016575 {source="DC-OMIM:615505", source="DOID:0110607", source="MONDO:Redundant", source="OMIM:615505"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11212 ! SPAG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11212 {source="MONDO:mim2gene_medgen"} ! SPAG1

[Term]
id: MONDO:0014217
name: telangiectasia, hereditary hemorrhagic, type 5
def: "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDF2 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GDF2 related HHT-like syndrome" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "hereditary hemorrhagic telangiectasia caused by mutation in GDF2" EXACT [MONDO:design_pattern]
synonym: "HHT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615506]
synonym: "telangiectasia, hereditary hemorrhagic, type 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615506]
xref: GARD:15978 {source="MONDO:GARD"}
xref: MEDGEN:816040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615506 {source="MONDO:equivalentTo"}
xref: Orphanet:774 {source="OMIM:615506"}
xref: UMLS:C3809710 {source="MEDGEN:816040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019180 {source="DC-OMIM:615506", source="MONDO:Redundant", source="OMIM:615506"} ! hereditary hemorrhagic telangiectasia
intersection_of: MONDO:0019180 ! hereditary hemorrhagic telangiectasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4217 ! GDF2
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615506"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4217 {source="MONDO:mim2gene_medgen"} ! GDF2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6195" xsd:anyURI

[Term]
id: MONDO:0014218
name: severe dermatitis-multiple allergies-metabolic wasting syndrome
subset: gard_rare {source="GARD:17594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369992"}
subset: orphanet_rare {source="Orphanet:369992"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" EXACT [Orphanet:369992]
synonym: "EPKHE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615508]
synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" EXACT [OMIM:615508, OMIM:genemap2]
synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE" RELATED [MONDO:Lexical, OMIM:615508]
synonym: "SAM syndrome" EXACT [Orphanet:369992]
synonym: "Sam syndrome" RELATED [OMIM:615508]
synonym: "severe dermatitis, multiple allergies, and metabolic wasting syndrome" RELATED [OMIM:615508]
xref: GARD:17594 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:369992/attributed", source="Orphanet:369992/ntbt", source="Orphanet:369992"}
xref: MEDGEN:816049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615508 {source="Orphanet:369992/e", source="MONDO:equivalentTo", source="Orphanet:369992"}
xref: Orphanet:369992 {source="MONDO:equivalentTo", source="OMIM:615508"}
xref: UMLS:C3809719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816049"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0005271 {source="Orphanet:369992", source="https://orcid.org/0000-0001-5208-3432"} ! allergic disease
relationship: excluded_subClassOf MONDO:0018037 {source="Orphanet:369992", source="https://orcid.org/0000-0001-5208-3432"} ! hyper-IgE syndrome
relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020027"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3048 {source="MONDO:mim2gene_medgen"} ! DSG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5914" xsd:anyURI

[Term]
id: MONDO:0014219
name: alacrima, achalasia, and intellectual disability syndrome
subset: gard_rare {source="GARD:12404", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:615510]
synonym: "alacrima, achalasia, and intellectual disability syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615510]
synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:615510]
synonym: "GMPPA-CDG" RELATED [GARD:0012404]
xref: DOID:0112321 {source="MONDO:equivalentTo"}
xref: GARD:12404 {source="MONDO:GARD"}
xref: MEDGEN:1640947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615510 {source="MONDO:equivalentTo"}
xref: Orphanet:869 {source="OMIM:615510"}
xref: UMLS:C4706563 {source="MEDGEN:1640947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615510"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22923 {source="MONDO:mim2gene_medgen"} ! GMPPA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0014220
name: myopathy due to myoadenylate deaminase deficiency
subset: gard_rare {source="GARD:15248", source="MONDO:GARD"}
subset: prototype_pattern
subset: rare
synonym: "adenosine monophosphate deaminase 1 deficiency" RELATED [GARD:0000547]
synonym: "adenosine monophosphate deaminase deficiency" RELATED [GARD:0000547]
synonym: "adenosine monophosphate deaminase-1 deficiency, myopathy due to" RELATED [OMIM:615511]
synonym: "AMP deaminase 1 deficiency" RELATED [GARD:0000547]
synonym: "AMP deaminase deficiency" RELATED [GARD:0000547]
synonym: "AMPD1 deficiency" RELATED [GARD:0000547, OMIM:615511]
synonym: "MMDD" RELATED ABBREVIATION [GARD:0000547, MONDO:Lexical, OMIM:615511]
synonym: "myoadenylate deaminase deficiency" RELATED [GARD:0000547]
synonym: "myoadenylate deaminase deficiency, myopathy due to" RELATED [OMIM:615511]
synonym: "myopathy due to myoadenylate deaminase deficiency" EXACT [GARD:0000547, MONDO:Lexical, OMIM:615511]
xref: GARD:15248 {source="MONDO:GARD"}
xref: MEDGEN:811508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C157504 {source="MONDO:equivalentTo"}
xref: OMIM:615511 {source="MONDO:equivalentTo", source="GARD:0000547"}
xref: Orphanet:45 {source="OMIM:615511", source="GARD:0000547"}
xref: UMLS:C3714933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811508"}
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
relationship: excluded_subClassOf MONDO:0013028 {source="Orphanet:45/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! adenosine monophosphate deaminase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/468 {source="MONDO:mim2gene_medgen"} ! AMPD1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency" xsd:anyURI {source="GARD:0000547"}

[Term]
id: MONDO:0014221
name: triosephosphate isomerase deficiency
def: "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." [Orphanet:868]
subset: gard_rare {source="GARD:5287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1793"}
subset: ordo_disorder {source="Orphanet:868"}
subset: orphanet_rare {source="Orphanet:868"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemolytic anaemia due to triosephosphate isomerase deficiency" EXACT OMO:0003005 []
synonym: "hemolytic anemia due to triosephosphate isomerase deficiency" EXACT [OMIM:615512, OMIM:genemap2]
synonym: "TPI deficiency" RELATED [GARD:0005287]
synonym: "TPID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615512]
synonym: "triose phosphate-isomerase deficiency" EXACT [DOID:0050884]
synonym: "triosephosphate isomerase deficiency" EXACT [MONDO:Lexical, OMIM:615512]
xref: DOID:0050884 {source="MONDO:equivalentTo"}
xref: GARD:5287 {source="MONDO:GARD"}
xref: ICD10CM:D55.2 {source="Orphanet:868", source="Orphanet:868/attributed", source="Orphanet:868/ntbt"}
xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:349893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566029 {source="MONDO:equivalentTo"}
xref: NCIT:C131652 {source="MONDO:equivalentTo"}
xref: NORD:1793 {source="MONDO:NORD"}
xref: OMIM:615512 {source="DOID:0050884", source="MONDO:equivalentTo", source="Orphanet:868", source="Orphanet:868/e"}
xref: Orphanet:868 {source="OMIM:615512", source="MONDO:equivalentTo"}
xref: SCTID:234405009 {source="MONDO:equivalentTo"}
xref: UMLS:C1860808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349893"}
is_a: MONDO:0002908 {source="DOID:0050884"} ! glucose metabolism disease
is_a: MONDO:0003664 ! hemolytic anemia
is_a: MONDO:0017688 {source="MONDO:Redundant", source="Orphanet:868", source="PMID:33340416"} ! disorder of glycolysis
is_a: MONDO:0019052 {source="MESH:C566029/inferred", source="MONDO:Redundant", source="NCIT:C131652", source="Orphanet:868/inferred"} ! inborn errors of metabolism
is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12009 {source="MONDO:mim2gene_medgen"} ! TPI1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency" xsd:anyURI {source="GARD:0005287"}

[Term]
id: MONDO:0014222
name: immunodeficiency 14
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15979", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:111933"}
subset: rare
synonym: "Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)" EXACT [NORD:111933]
synonym: "Activated PI3K-Delta syndrome" RELATED [OMIM:615513]
synonym: "IMD14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615513]
synonym: "immunodeficiency 14" EXACT [MONDO:Lexical, OMIM:615513]
synonym: "immunodeficiency 14A, autosomal dominant" EXACT [OMIM:615513, OMIM:genemap2]
synonym: "immunodeficiency type 14" EXACT [MONDORULE:2, OMIM:615513]
synonym: "p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" RELATED [OMIM:615513]
xref: DOID:0111936 {source="MONDO:equivalentTo"}
xref: GARD:15979 {source="MONDO:GARD"}
xref: MEDGEN:811535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:111933 {source="MONDO:NORD"}
xref: OMIM:615513 {source="MONDO:equivalentTo"}
xref: Orphanet:397596 {source="OMIM:615513"}
xref: UMLS:C3714976 {source="MEDGEN:811535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018338 {source="Orphanet:397596/btnt"} ! activated PI3K-delta syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8977 {source="MONDO:mim2gene_medgen"} ! PIK3CD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014223
name: amyotrophic lateral sclerosis type 19
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS19" EXACT ABBREVIATION [DOID:0060210, MONDO:Lexical, OMIM:615515]
synonym: "amyotrophic lateral sclerosis 19" EXACT [DOID:0060210, MONDO:Lexical, OMIM:615515]
synonym: "amyotrophic lateral sclerosis caused by mutation in ERBB4" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 19" EXACT CLINGEN_LABEL [MONDORULE:2, OMIM:615515]
synonym: "ERBB4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060210 {source="MONDO:equivalentTo"}
xref: GARD:15980 {source="MONDO:GARD"}
xref: MEDGEN:811607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615515 {source="DOID:0060210", source="MONDO:equivalentTo"}
xref: Orphanet:803 {source="OMIM:615515"}
xref: UMLS:C3715155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811607"}
is_a: MONDO:0005144 {source="DOID:0060210", source="MONDO:Redundant", source="OMIM:615515"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3432 ! ERBB4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3432 {source="MONDO:mim2gene_medgen"} ! ERBB4

[Term]
id: MONDO:0014224
name: developmental delay with autism spectrum disorder and gait instability
def: "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior." [Orphanet:329195]
subset: gard_rare {source="GARD:17496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329195"}
subset: orphanet_rare {source="Orphanet:329195"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "developmental delay with ASD and gait instability" EXACT [Orphanet:329195]
synonym: "intellectual developmental disorder, autosomal recessive 38" EXACT [OMIM:615516, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 38" RELATED [MONDO:Lexical, OMIM:615516]
synonym: "intellectual disability, autosomal recessive type 38" EXACT [MONDORULE:2, OMIM:615516]
synonym: "mental retardation, autosomal recessive 38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516]
synonym: "mental retardation, autosomal recessive type 38" EXACT DEPRECATED [MONDORULE:2, OMIM:615516]
synonym: "MRT38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516]
xref: DOID:0081203 {source="MONDO:equivalentTo"}
xref: GARD:17496 {source="MONDO:GARD"}
xref: MEDGEN:816083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615516 {source="Orphanet:329195", source="MONDO:equivalentTo", source="Orphanet:329195/e"}
xref: Orphanet:329195 {source="MONDO:equivalentTo", source="OMIM:615516"}
xref: UMLS:C3809753 {source="MEDGEN:816083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019502 {source="OMIM:615516", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive non-syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4868 {source="MONDO:mim2gene_medgen"} ! HERC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014225
name: hemochromatosis type 5
def: "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor notes: ORDO treats this as two diseases
subset: gard_rare {source="GARD:13472", source="MONDO:GARD"}
subset: merged_class
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247790"}
subset: orphanet_rare {source="Orphanet:247790"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FTH1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "FTH1-associated iron overload" EXACT [DOID:0111031, Orphanet:247790]
synonym: "FTH1-related iron overload" EXACT [DOID:0111031]
synonym: "hemochromatosis, type 5" RELATED [MONDO:Lexical, OMIM:615517]
synonym: "hereditary hemochromatosis caused by mutation in FTH1" EXACT [MONDO:design_pattern]
synonym: "HFE5" EXACT ABBREVIATION [DOID:0111031, MONDO:Lexical, OMIM:615517]
synonym: "iron overload, autosomal dominant" RELATED [OMIM:615517]
xref: DOID:0111031 {source="MONDO:equivalentTo"}
xref: GARD:13472 {source="MONDO:GARD"}
xref: ICD10CM:E83.1 {source="DOID:0111031", source="Orphanet:247790", source="Orphanet:447792", source="Orphanet:247790/attributed", source="Orphanet:247790/ntbt", source="Orphanet:447792/attributed", source="Orphanet:447792/ntbt"}
xref: MEDGEN:341982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565020 {source="MONDO:equivalentTo"}
xref: OMIM:615517 {source="Orphanet:247790/e", source="MONDO:equivalentTo", source="DOID:0111031", source="Orphanet:247790"}
xref: Orphanet:247790 {source="MONDO:equivalentTo", source="DOID:0111031", source="MONDO:preferredExternal", source="OMIM:615517"}
xref: Orphanet:447792 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1851316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341982"}
is_a: MONDO:0006507 {source="DOID:0111031", source="MONDO:Redundant", source="OMIM:615517", source="Orphanet:447792"} ! hereditary hemochromatosis
intersection_of: MONDO:0006507 ! hereditary hemochromatosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3976 ! FTH1
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3976 {source="MONDO:mim2gene_medgen"} ! FTH1

[Term]
id: MONDO:0014226
name: idiopathic CD4 lymphocytopenia
def: "A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed." [https://orcid.org/0000-0001-5208-3432, Orphanet:228000]
subset: gard_rare {source="GARD:12375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228000"}
subset: orphanet_rare {source="Orphanet:228000"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ICL" RELATED ABBREVIATION [GARD:0012375]
synonym: "idiopathic Cd4 lymphopenia" RELATED [OMIM:615518]
synonym: "idiopathic CD4 positive T-lymphocytopenia" RELATED [GARD:0012375]
synonym: "IMD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615518]
synonym: "immunodeficiency 13" RELATED [MONDO:Lexical, OMIM:615518]
synonym: "immunodeficiency type 13" EXACT [MONDORULE:2, OMIM:615518]
xref: DOID:0111987 {source="MONDO:equivalentTo"}
xref: GARD:12375 {source="MONDO:GARD"}
xref: ICD10CM:D72.8 {source="Orphanet:228000/attributed", source="Orphanet:228000/ntbt", source="Orphanet:228000"}
xref: MEDGEN:816098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615518 {source="Orphanet:228000/e", source="MONDO:equivalentTo", source="Orphanet:228000"}
xref: Orphanet:228000 {source="MONDO:equivalentTo", source="OMIM:615518"}
xref: SCTID:763713000 {source="MONDO:equivalentTo"}
xref: UMLS:C3809768 {source="MEDGEN:816098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:615518"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:228000", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12565 {source="MONDO:mim2gene_medgen"} ! UNC119

[Term]
id: MONDO:0014227
name: hypopigmentation-punctate palmoplantar keratoderma syndrome
subset: gard_rare {source="GARD:12384", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324561"}
subset: orphanet_rare {source="Orphanet:324561"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COLE disease" RELATED [MONDO:Lexical, OMIM:615522]
synonym: "Cole disease" EXACT [Orphanet:324561]
synonym: "COLED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615522]
synonym: "guttate hypopigmentation" RELATED [GARD:0012384]
synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma" EXACT [Orphanet:324561]
synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [OMIM:615522]
synonym: "hypopigmentation and punctate keratosis of the palms and soles" EXACT [Orphanet:324561]
synonym: "punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [GARD:0012384]
xref: GARD:12384 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:324561/attributed", source="Orphanet:324561/ntbt", source="Orphanet:324561"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:816111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615522 {source="Orphanet:324561/e", source="MONDO:equivalentTo", source="Orphanet:324561"}
xref: Orphanet:324561 {source="OMIM:615522", source="MONDO:equivalentTo"}
xref: SCTID:711154007 {source="MONDO:equivalentTo"}
xref: UMLS:C3809781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816111"}
is_a: MONDO:0000426 {source="https://github.com/monarch-initiative/mondo/pull/2317"} ! autosomal dominant disease
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615522", source="Orphanet:324561"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3356 {source="MONDO:mim2gene_medgen"} ! ENPP1

[Term]
id: MONDO:0014228
name: corneal dystrophy, Fuchs endothelial, 8
def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGBL1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "corneal dystrophy, Fuchs endothelial, 8" EXACT [MONDO:Lexical, OMIM:615523]
synonym: "corneal dystrophy, Fuchs endothelial, type 8" EXACT [MONDORULE:1, OMIM:615523]
synonym: "FECD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615523]
synonym: "Fuchs' endothelial dystrophy caused by mutation in AGBL1" EXACT [MONDO:design_pattern]
xref: GARD:18223 {source="MONDO:GARD"}
xref: MEDGEN:816128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615523 {source="MONDO:equivalentTo"}
xref: Orphanet:98974 {source="OMIM:615523"}
xref: UMLS:C3809798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816128"}
is_a: MONDO:0005321 {source="DC-OMIM:615523", source="MONDO:Redundant", source="OMIM:615523"} ! Fuchs' endothelial dystrophy
intersection_of: MONDO:0005321 ! Fuchs' endothelial dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26504 ! AGBL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26504 {source="MONDO:mim2gene_medgen"} ! AGBL1

[Term]
id: MONDO:0014229
name: microphthalmia, syndromic 12
def: "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." [https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12]
subset: gard_rare {source="GARD:13235", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615524]
synonym: "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects" RELATED [OMIM:615524]
synonym: "microphthalmia, syndromic 12" EXACT [MONDO:Lexical, OMIM:615524]
synonym: "microphthalmia, syndromic type 12" EXACT [MONDORULE:2, OMIM:615524]
synonym: "RARB syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "syndromic microphthalmia caused by mutation in RARB" EXACT [MONDO:design_pattern]
synonym: "syndromic microphthalmia-12" RELATED [GARD:0013235]
xref: DOID:0111800 {source="MONDO:equivalentTo"}
xref: GARD:13235 {source="MONDO:GARD"}
xref: MEDGEN:816133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615524 {source="MONDO:equivalentTo"}
xref: Orphanet:2470 {source="OMIM:615524"}
xref: UMLS:C3809803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816133"}
is_a: MONDO:0016073 {source="MONDO:Redundant", source="OMIM:615524"} ! syndromic microphthalmia
intersection_of: MONDO:0016073 ! syndromic microphthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9865 ! RARB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9865 {source="MONDO:mim2gene_medgen"} ! RARB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12" xsd:anyURI {source="GARD:0013235"}

[Term]
id: MONDO:0014230
name: candidiasis, familial, 8
def: "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15981", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CANDF8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615527]
synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [OMIM:615527]
synonym: "candidiasis, familial, 8" EXACT [MONDO:Lexical, OMIM:615527]
synonym: "candidiasis, familial, type 8" EXACT [MONDORULE:1, OMIM:615527]
synonym: "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2" EXACT []
synonym: "TRAF3IP2 chronic mucocutaneous candidiasis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: GARD:15981 {source="MONDO:GARD"}
xref: MEDGEN:811541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615527 {source="MONDO:equivalentTo"}
xref: UMLS:C3714992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811541"}
is_a: MONDO:0015279 {source="OMIM:615527"} ! chronic mucocutaneous candidiasis
intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1343 ! TRAF3IP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1343 {source="MONDO:mim2gene_medgen"} ! TRAF3IP2

[Term]
id: MONDO:0014231
name: juvenile onset Parkinson disease 19A
def: "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18461", source="MONDO:GARD"}
subset: rare
synonym: "DNAJC6 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "juvenile onset Parkinson disease 19A" EXACT CLINGEN_LABEL []
synonym: "juvenile onset Parkinson disease type 19A" EXACT [DOID:0060891, MONDORULE:4]
synonym: "juvenile onset Parkinson's disease 19A" RELATED [DOID:0060891]
synonym: "PARK19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615528]
synonym: "Park19, formerly" RELATED [OMIM:615528]
synonym: "PARK19A" RELATED ABBREVIATION [OMIM:615528]
synonym: "Parkinson disease 19, juvenile-onset" RELATED [MONDO:Lexical, OMIM:615528]
synonym: "Parkinson disease 19A, juvenile-onset" RELATED [OMIM:615528]
synonym: "Parkinson disease 19B, early-onset" RELATED [OMIM:615528]
synonym: "Parkinson disease caused by mutation in DNAJC6" EXACT [MONDO:design_pattern]
xref: DOID:0060891 {source="MONDO:equivalentTo"}
xref: GARD:18461 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="DOID:0060891"}
xref: MEDGEN:816141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615528 {source="DOID:0060891", source="MONDO:equivalentTo"}
xref: Orphanet:391411 {source="DOID:0060891", source="OMIM:615528"}
xref: UMLS:C3809811 {source="MONDO:equivalentTo", source="MEDGEN:816141", source="MONDO:MEDGEN"}
is_a: MONDO:0000828 {source="DOID:0060891"} ! juvenile-onset Parkinson disease
is_a: MONDO:0005180 {source="DOID:0060891/inferred", source="MONDO:Redundant", source="OMIM:615528"} ! Parkinson disease
is_a: MONDO:0018321 {source="Orphanet:391411/btnt"} ! atypical juvenile parkinsonism
intersection_of: MONDO:0005180 ! Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15469 ! DNAJC6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15469 {source="MONDO:mim2gene_medgen"} ! DNAJC6

[Term]
id: MONDO:0014232
name: craniosynostosis 5, susceptibility to
def: "Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "ALX4 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "craniosynostosis 5, susceptibility to" EXACT [MONDO:Lexical, OMIM:615529]
synonym: "craniosynostosis caused by mutation in ALX4" EXACT [MONDO:design_pattern]
synonym: "CRS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615529]
synonym: "susceptibility to craniosynostosis 5" RELATED [OMIM:615529]
xref: MEDGEN:816149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615529 {source="MONDO:equivalentTo"}
xref: Orphanet:35093 {source="OMIM:615529"}
xref: UMLS:C3809819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816149"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 ! ALX4
intersection_of: predisposes_towards MONDO:0015469 ! craniosynostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 {source="MONDO:mim2gene_medgen"} ! ALX4

[Term]
id: MONDO:0014233
name: early-onset Parkinson disease 20
def: "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18462", source="MONDO:GARD"}
subset: rare
synonym: "early-onset Parkinson disease type 20" EXACT [DOID:0060898, MONDORULE:2]
synonym: "early-onset Parkinson's disease 20" RELATED [DOID:0060898]
synonym: "PARK20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615530]
synonym: "Parkinson disease 20, early-onset" RELATED [MONDO:Lexical, OMIM:615530]
synonym: "Parkinson disease caused by mutation in SYNJ1" EXACT [MONDO:design_pattern]
synonym: "SYNJ1 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060898 {source="MONDO:equivalentTo"}
xref: GARD:18462 {source="MONDO:GARD"}
xref: MEDGEN:816154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615530 {source="MONDO:equivalentTo", source="DOID:0060898"}
xref: Orphanet:391411 {source="MONDO:relatedTo", source="OMIM:615530"}
xref: UMLS:C3809824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816154"}
is_a: MONDO:0005180 {source="DOID:0060898/inferred", source="MONDO:Redundant", source="OMIM:615530"} ! Parkinson disease
is_a: MONDO:0017279 {source="DOID:0060898"} ! young-onset Parkinson disease
intersection_of: MONDO:0005180 ! Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11503 ! SYNJ1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11503 {source="MONDO:mim2gene_medgen"} ! SYNJ1

[Term]
id: MONDO:0014234
name: reticulate acropigmentation of Kitamura
def: "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." [DOID:0060258, PMID:22808308]
subset: gard_rare {source="GARD:17079", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178307"}
subset: orphanet_rare {source="Orphanet:178307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acropigmentatio reticularis" RELATED [OMIM:615537]
synonym: "Kitamura reticulate acropigmentation" RELATED [OMIM:615537]
synonym: "RAK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615537]
synonym: "RAPK" EXACT ABBREVIATION [DOID:0060258, Orphanet:178307]
synonym: "reticulate acropigmentation of Kitamura" EXACT [MONDO:Lexical, OMIM:615537]
synonym: "reticulate pigmentation of Kitamura" RELATED [OMIM:615537]
xref: DOID:0060258 {source="MONDO:equivalentTo"}
xref: GARD:17079 {source="MONDO:GARD"}
xref: ICD10CM:L81.8 {source="Orphanet:178307/attributed", source="Orphanet:178307/ntbt", source="Orphanet:178307"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562924 {source="DOID:0060258", source="MONDO:directSiblingOf"}
xref: OMIM:615537 {source="Orphanet:178307/e", source="MONDO:equivalentTo", source="DOID:0060258", source="Orphanet:178307"}
xref: Orphanet:178307 {source="MONDO:equivalentTo", source="DOID:0060258", source="OMIM:615537"}
xref: SCTID:239133004 {source="MONDO:equivalentTo", source="DOID:0060258"}
xref: UMLS:C0406811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98363"}
is_a: MONDO:0000118 {source="DC-OMIM:615537", source="OMIM:615537"} ! reticulate pigment disorder
is_a: MONDO:0019289 {source="Orphanet:178307"} ! hyperpigmentation of the skin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/188 {source="MONDO:mim2gene_medgen"} ! ADAM10

[Term]
id: MONDO:0014235
name: chromosome 22q13 duplication syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 22q13 duplication syndrome" EXACT [OMIM:615538]
synonym: "chromosome 22q13 duplication syndrome, isolated cases" EXACT [OMIM:615538, OMIM:genemap2]
xref: DOID:0060437 {source="MONDO:equivalentTo"}
xref: MEDGEN:816174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615538 {source="MONDO:equivalentTo", source="DOID:0060437"}
xref: UMLS:C3809844 {source="MONDO:equivalentTo", source="MEDGEN:816174", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="DC-OMIM:615538", source="DOID:0060437"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016972 {source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of the long arm of chromosome 22
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr22q13 ! 22q13 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014236
name: Ehlers-Danlos syndrome, musculocontractural type 2
def: "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15982", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DSE Ehlers-Danlos syndrome, musculocontractural type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EDSMC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615539]
synonym: "Ehlers-Danlos syndrome, musculocontractural type 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615539]
synonym: "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE" EXACT [MONDO:design_pattern]
synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2" RELATED [OMIM:615539]
xref: DOID:0080735 {source="MONDO:equivalentTo"}
xref: DOID:0080737 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:15982 {source="MONDO:GARD"}
xref: MEDGEN:816175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615539 {source="MONDO:equivalentTo"}
xref: Orphanet:2953 {source="OMIM:615539"}
xref: UMLS:C3809845 {source="MEDGEN:816175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011142 {source="MONDO:Redundant", source="Orphanet:2953/btnt"} ! Ehlers-Danlos syndrome, musculocontractural type
intersection_of: MONDO:0011142 ! Ehlers-Danlos syndrome, musculocontractural type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21144 ! DSE
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21144 {source="MONDO:mim2gene_medgen"} ! DSE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014237
name: autosomal recessive nonsyndromic hearing loss 76
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22650", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 76" NARROW [DOID:0110524]
synonym: "autosomal recessive nonsyndromic deafness 76" NARROW [OMIM:615540]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SYNE4" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 76" NARROW [DOID:0110524, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 76" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 76" NARROW [MONDO:Lexical, OMIM:615540, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 76" NARROW [MONDORULE:2, OMIM:615540]
synonym: "DFNB76" NARROW ABBREVIATION [DOID:0110524, MONDO:Lexical, OMIM:615540]
synonym: "SYNE4 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110524 {source="MONDO:equivalentTo"}
xref: GARD:22650 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110524"}
xref: MEDGEN:811137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615540 {source="DOID:0110524", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:615540"}
xref: UMLS:C3147083 {source="MEDGEN:811137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:615540", source="DOID:0110524", source="MONDO:Redundant", source="OMIM:615540"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26703 ! SYNE4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26703 {source="MONDO:mim2gene_medgen"} ! SYNE4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014238
name: severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
subset: gard_rare {source="GARD:17611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391307"}
subset: ordo_malformation_syndrome {source="Orphanet:391307"}
subset: orphanet_rare {source="Orphanet:391307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, autosomal recessive 39" RELATED [MONDO:Lexical, OMIM:615541]
synonym: "intellectual disability, autosomal recessive type 39" EXACT [MONDORULE:2, OMIM:615541]
synonym: "mental retardation, autosomal recessive 39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541]
synonym: "mental retardation, autosomal recessive type 39" EXACT DEPRECATED [MONDORULE:2, OMIM:615541]
synonym: "MRT39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541]
xref: DOID:0081204 {source="MONDO:equivalentTo"}
xref: GARD:17611 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:391307", source="Orphanet:391307/attributed", source="Orphanet:391307/ntbt"}
xref: MEDGEN:816183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615541 {source="Orphanet:391307", source="MONDO:equivalentTo", source="Orphanet:391307/e"}
xref: Orphanet:391307 {source="MONDO:equivalentTo", source="OMIM:615541"}
xref: UMLS:C3809853 {source="MEDGEN:816183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:391307"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:391307", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26262 {source="MONDO:mim2gene_medgen"} ! TTI2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014239
name: testicular anomalies with or without congenital heart disease
subset: gard_rare {source="GARD:18360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TACHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615542]
synonym: "testicular anomalies with or without congenital heart disease" EXACT [MONDO:Lexical, OMIM:615542]
xref: GARD:18360 {source="MONDO:GARD"}
xref: MEDGEN:816188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615542 {source="MONDO:equivalentTo"}
xref: Orphanet:251510 {source="OMIM:615542"}
xref: UMLS:C3809858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816188"}
is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4

[Term]
id: MONDO:0014240
name: periventricular nodular heterotopia 6
def: "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ERMARD periventricular nodular heterotopia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "periventricular nodular heterotopia 6" EXACT [MONDO:Lexical, OMIM:615544]
synonym: "periventricular nodular heterotopia caused by mutation in ERMARD" EXACT [MONDO:design_pattern]
synonym: "periventricular nodular heterotopia type 6" EXACT [MONDORULE:1, OMIM:615544]
synonym: "PVNH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615544]
xref: GARD:15983 {source="MONDO:GARD"}
xref: MEDGEN:816202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615544 {source="MONDO:equivalentTo"}
xref: Orphanet:2149 {source="OMIM:615544"}
xref: Orphanet:98892 {source="OMIM:615544"}
xref: UMLS:C3809872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816202"}
is_a: MONDO:0020341 {source="DC-OMIM:615544", source="MONDO:Redundant"} ! periventricular nodular heterotopia
intersection_of: MONDO:0020341 ! periventricular nodular heterotopia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21056 ! ERMARD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21056 {source="MONDO:mim2gene_medgen"} ! ERMARD

[Term]
id: MONDO:0014241
name: leukemia, acute lymphoblastic, susceptibility to, 3
def: "Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "ALL3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615545]
synonym: "leukemia, acute lymphoblastic, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:615545]
synonym: "leukemia, acute lymphoblastic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:615545]
synonym: "PAX5 precursor B-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "PAX5 precursor B-cell acute lymphoblastic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5" EXACT OMO:0003005 []
synonym: "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" EXACT [MONDO:design_pattern]
synonym: "susceptibility to acute lymphoblastic leukaemia 3" RELATED OMO:0003005 []
synonym: "susceptibility to acute lymphoblastic leukemia 3" RELATED [OMIM:615545]
xref: MEDGEN:816204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615545 {source="MONDO:equivalentTo"}
xref: Orphanet:99860 {source="OMIM:615545"}
xref: UMLS:C3809874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816204"}
is_a: MONDO:0020573 {source="OMIM:615545"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8619 ! PAX5
intersection_of: predisposes_towards MONDO:0004967 ! acute lymphoblastic leukemia
relationship: excluded_subClassOf MONDO:0020511 {source="Orphanet:99860/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! precursor B-cell acute lymphoblastic leukemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8619 {source="MONDO:mim2gene_medgen"} ! PAX5
relationship: predisposes_towards MONDO:0004967 ! acute lymphoblastic leukemia

[Term]
id: MONDO:0014242
name: van Maldergem syndrome 2
def: "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15984", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FAT4 van Maldergem syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "VAN Maldergem syndrome 2" RELATED [OMIM:615546]
synonym: "van Maldergem syndrome 2" EXACT [MONDO:Lexical, OMIM:615546]
synonym: "van Maldergem syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern]
synonym: "Van Maldergem syndrome type 2" EXACT [MONDORULE:1, OMIM:615546]
synonym: "VMLDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615546]
xref: DOID:0080586 {source="MONDO:equivalentTo"}
xref: GARD:15984 {source="MONDO:GARD"}
xref: MEDGEN:816205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615546 {source="MONDO:equivalentTo"}
xref: Orphanet:314679 {source="OMIM:615546"}
xref: UMLS:C3809875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816205"}
is_a: MONDO:0017813 {source="DC-OMIM:615546", source="MONDO:Redundant", source="OMIM:615546"} ! van Maldergem syndrome
intersection_of: MONDO:0017813 ! van Maldergem syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 ! FAT4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 {source="MONDO:mim2gene_medgen"} ! FAT4

[Term]
id: MONDO:0014243
name: Schaaf-Yang syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13316", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398069"}
subset: ordo_etiological_subtype {source="Orphanet:398069"}
subset: orphanet_rare {source="Orphanet:398069"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" EXACT [MONDO:0008820, OMIM:208080]
synonym: "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies" EXACT DEPRECATED [OMIM:208080]
synonym: "Chitayat-Hall syndrome" RELATED [GARD:0010087]
synonym: "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies" RELATED [GARD:0010087]
synonym: "MAGEL2-related Prader-Willi-like syndrome" EXACT [Orphanet:398069]
synonym: "MAGEL2-related PWLS" EXACT [Orphanet:398069]
synonym: "Prader-Willi syndrome due to point mutation" RELATED DEPRECATED [Orphanet:398069]
synonym: "Prader-Willi-like syndrome" RELATED [OMIM:615547]
synonym: "PWS due to a point mutation" RELATED DEPRECATED [Orphanet:398069]
synonym: "Schaaf-Yang syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615547, Orphanet:398069, PMID:24076603]
synonym: "SHFYNG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615547]
xref: DOID:0111715 {source="MONDO:equivalentTo"}
xref: GARD:13316 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:398069", source="Orphanet:398069/attributed", source="Orphanet:398069/ntbt"}
xref: MEDGEN:1807366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535385 {source="MONDO:equivalentTo"}
xref: OMIM:208080 {source="MONDO:equivalentObsolete"}
xref: OMIM:615547 {source="Orphanet:398069", source="MONDO:equivalentTo", source="Orphanet:398069/e", source="MONDO:preferredExternal"}
xref: Orphanet:398069 {source="OMIM:615547", source="MONDO:equivalentTo"}
xref: Orphanet:739 {source="OMIM:615547"}
xref: UMLS:C5575066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807366"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0008300 {source="Orphanet:398069"} ! Prader-Willi syndrome
relationship: has_characteristic SO:1000008 ! point_mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6814 {source="MONDO:mim2gene_medgen"} ! MAGEL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3338" xsd:anyURI

[Term]
id: MONDO:0014244
name: hereditary sensory and autonomic neuropathy type 7
def: "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" [https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7]
subset: gard_rare {source="GARD:12732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391397"}
subset: orphanet_rare {source="Orphanet:391397"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A" EXACT [MONDO:design_pattern]
synonym: "CIP with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397]
synonym: "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397]
synonym: "hereditary sensory and autonomic neuropathy type VII" EXACT [DOID:0070149, Orphanet:391397]
synonym: "hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397]
synonym: "HSAN 7" RELATED [OMIM:615548]
synonym: "HSAN VII" EXACT [NCIT:C125388]
synonym: "HSAN with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397]
synonym: "HSAN7" EXACT ABBREVIATION [DOID:0070149, MONDO:Lexical, OMIM:615548, Orphanet:391397]
synonym: "insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis" RELATED [OMIM:615548]
synonym: "neuropathy, hereditary sensory and autonomic, type 7" RELATED [OMIM:615548]
synonym: "neuropathy, hereditary sensory and autonomic, type VII" RELATED [GARD:0012732, MONDO:Lexical, OMIM:615548]
synonym: "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070149 {source="MONDO:equivalentTo"}
xref: GARD:12732 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="DOID:0070149", source="Orphanet:391397", source="Orphanet:391397/attributed", source="Orphanet:391397/ntbt"}
xref: MEDGEN:816212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125388 {source="MONDO:equivalentTo"}
xref: OMIM:615548 {source="MONDO:equivalentTo", source="DOID:0070149", source="Orphanet:391397", source="Orphanet:391397/e"}
xref: Orphanet:391397 {source="MONDO:equivalentTo", source="OMIM:615548", source="DOID:0070149"}
xref: UMLS:C3809882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816212"}
is_a: MONDO:0015364 {source="DOID:0070149", source="OMIM:615548", source="Orphanet:391397/inferred"} ! hereditary sensory and autonomic neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10583 {source="MONDO:mim2gene_medgen"} ! SCN11A
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7" xsd:anyURI {source="GARD:0012732"}

[Term]
id: MONDO:0014245
name: Diamond-Blackfan anemia 12
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615550]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPL15" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 12" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 12" EXACT [MONDO:Lexical, OMIM:615550]
synonym: "Diamond-Blackfan anemia caused by mutation in RPL15" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 12" EXACT [MONDORULE:2, OMIM:615550]
synonym: "RPL15 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPL15 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111882 {source="MONDO:equivalentTo"}
xref: GARD:15985 {source="MONDO:GARD"}
xref: MEDGEN:816218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615550 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:615550"}
xref: UMLS:C3809888 {source="MEDGEN:816218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="DC-OMIM:615550", source="MONDO:Redundant", source="OMIM:615550"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10306 ! RPL15
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10306 {source="MONDO:mim2gene_medgen"} ! RPL15

[Term]
id: MONDO:0014246
name: episodic pain syndrome, familial, 2
def: "Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18440", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "episodic pain syndrome, familial, 2" EXACT [MONDO:Lexical, OMIM:615551]
synonym: "episodic pain syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615551]
synonym: "familial episodic pain syndrome caused by mutation in SCN10A" EXACT [MONDO:design_pattern]
synonym: "FEPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615551]
synonym: "SCN10A familial episodic pain syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111730 {source="MONDO:equivalentTo"}
xref: GARD:18440 {source="MONDO:GARD"}
xref: MEDGEN:816223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615551 {source="MONDO:equivalentTo"}
xref: Orphanet:306577 {source="OMIM:615551"}
xref: UMLS:C3809893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816223"}
is_a: MONDO:0018319 {source="DC-OMIM:615551", source="MONDO:Redundant", source="OMIM:615551"} ! familial episodic pain syndrome
intersection_of: MONDO:0018319 ! familial episodic pain syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10582 ! SCN10A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10582 {source="MONDO:mim2gene_medgen"} ! SCN10A

[Term]
id: MONDO:0014247
name: familial episodic pain syndrome with predominantly lower limb involvement
def: "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." [NCIT:C125390]
subset: gard_rare {source="GARD:17619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391392"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "episodic pain syndrome, familial, 3" RELATED [MONDO:Lexical, OMIM:615552]
synonym: "episodic pain syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:615552]
synonym: "FEPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615552]
xref: DOID:0111731 {source="MONDO:equivalentTo"}
xref: GARD:17619 {source="MONDO:GARD"}
xref: ICD10CM:M79.6 {source="Orphanet:391392", source="Orphanet:391392/attributed", source="Orphanet:391392/ntbt"}
xref: MEDGEN:816229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125390 {source="MONDO:equivalentTo"}
xref: OMIM:615552 {source="Orphanet:391392", source="MONDO:equivalentTo", source="Orphanet:391392/e"}
xref: Orphanet:391384 {source="OMIM:615552"}
xref: Orphanet:391392 {source="MONDO:equivalentTo", source="OMIM:615552"}
xref: UMLS:C3809899 {source="MEDGEN:816229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C125390"} ! syndromic disease
is_a: MONDO:0018319 {source="OMIM:615552", source="Orphanet:391392"} ! familial episodic pain syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10583 {source="MONDO:mim2gene_medgen"} ! SCN11A

[Term]
id: MONDO:0014248
name: autism spectrum disorder - epilepsy - arthrogryposis syndrome
def: "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." [Orphanet:370943]
subset: gard_rare {source="GARD:17604", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370943"}
subset: orphanet_rare {source="Orphanet:370943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553]
synonym: "arthrogryposis, impaired intellectual development, and seizures" EXACT [OMIM:615553, OMIM:genemap2]
synonym: "arthrogryposis, intellectual disability, and seizures" RELATED [MONDO:Lexical, OMIM:615553]
synonym: "arthrogryposis, mental retardation, and seizures" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553]
synonym: "SLC35A3-CDG" EXACT [Orphanet:370943]
xref: GARD:17604 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:370943/attributed", source="Orphanet:370943/ntbt", source="Orphanet:370943"}
xref: MEDGEN:816240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615553 {source="Orphanet:370943/e", source="MONDO:equivalentTo", source="Orphanet:370943"}
xref: Orphanet:370943 {source="OMIM:615553", source="MONDO:equivalentTo"}
xref: UMLS:C3809910 {source="MONDO:equivalentTo", source="MEDGEN:816240", source="MONDO:MEDGEN"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
is_a: MONDO:0017740 {source="Orphanet:370943"} ! disorder of protein N-glycosylation
is_a: MONDO:0019942 {source="Orphanet:370943"} ! distal arthrogryposis
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11023 {source="MONDO:mim2gene_medgen"} ! SLC35A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014249
name: multiple fibroadenoma of the breast
def: "Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns." [Orphanet:50920]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mammary polyadenomatosis" EXACT [Orphanet:50920]
synonym: "MFAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615554]
synonym: "multiple fibroadenomas of the breast" RELATED [MONDO:Lexical, OMIM:615554]
xref: ICD10CM:D24 {source="Orphanet:50920", source="Orphanet:50920/ntbt"}
xref: MEDGEN:816248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615554 {source="MONDO:equivalentTo", source="Orphanet:50920", source="Orphanet:50920/e"}
xref: Orphanet:50920 {source="OMIM:615554", source="MONDO:equivalentObsolete"}
xref: UMLS:C3809918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816248"}
is_a: MONDO:0000620 {source="Orphanet:50920"} ! breast benign neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015869"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9446 {source="MONDO:mim2gene_medgen"} ! PRLR

[Term]
id: MONDO:0014250
name: familial hyperprolactinemia
def: "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." [Orphanet:397685]
subset: gard_rare {source="GARD:17634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397685"}
subset: orphanet_rare {source="Orphanet:397685"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hyperprolactinemia" EXACT [Orphanet:397685]
synonym: "familial isolated prolactin receptor deficiency" EXACT [Orphanet:397685]
synonym: "hereditary hyperprolactinemia (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "HPRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615555]
synonym: "hyperprolactinemia" RELATED [MONDO:Lexical, OMIM:615555]
xref: GARD:17634 {source="MONDO:GARD"}
xref: ICD10CM:E22.1 {source="Orphanet:397685/attributed", source="Orphanet:397685/ntbt", source="MONDO:relatedTo", source="Orphanet:397685"}
xref: MEDGEN:1645317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615555 {source="Orphanet:397685", source="MONDO:equivalentTo", source="Orphanet:397685/e"}
xref: Orphanet:397685 {source="OMIM:615555", source="MONDO:equivalentTo"}
xref: SCTID:763715007 {source="MONDO:equivalentTo"}
xref: UMLS:C4706551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645317"}
is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted", source="MONDO:0015968-obsoleted"} ! endocrine system disorder
intersection_of: MONDO:0005804 ! hyperprolactinemia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9446 {source="MONDO:mim2gene_medgen"} ! PRLR

[Term]
id: MONDO:0014251
name: melioidosis, susceptibility to
subset: predisposition
synonym: "melioidosis, resistance to" RELATED [OMIM:615557]
synonym: "melioidosis, susceptibility to" EXACT [OMIM:615557]
synonym: "susceptibility to melioidosis" RELATED [OMIM:615557]
xref: MEDGEN:816255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615557 {source="MONDO:equivalentTo"}
xref: Orphanet:31202 {source="OMIM:615557"}
xref: UMLS:C3809925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816255"}
intersection_of: MONDO:0020573 {source="OMIM:615557"} ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0017775 {source="OMIM:615557"} ! melioidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11851 {source="MONDO:mim2gene_medgen"} ! TLR5
relationship: predisposes_towards MONDO:0017775 {source="Orphanet:31202-adjusted"} ! melioidosis

[Term]
id: MONDO:0014252
name: familial hypobetalipoproteinemia 1
def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2876", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acanthocytosis with hypobetalipoproteinemia" RELATED [OMIM:615558]
synonym: "APOB hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial hypobetalipoproteinemia 1" EXACT CLINGEN_LABEL []
synonym: "familial hypobetalipoproteinemia type 1" EXACT [DOID:0111062, MONDORULE:1]
synonym: "FHBL" RELATED ABBREVIATION [GARD:0002876]
synonym: "FHBL1" EXACT ABBREVIATION [DOID:0111062, MONDO:Lexical, OMIM:615558]
synonym: "hypobetalipoproteinemia" BROAD [OMIM:615558, OMIM:genemap2]
synonym: "hypobetalipoproteinemia caused by mutation in APOB" EXACT [MONDO:design_pattern]
synonym: "hypobetalipoproteinemia, familial" RELATED [OMIM:615558]
synonym: "hypobetalipoproteinemia, familial, 1" RELATED [MONDO:Lexical, OMIM:615558]
synonym: "hypobetalipoproteinemia, familial, type 1" EXACT [MONDORULE:1, OMIM:615558]
synonym: "hypobetalipoproteinemia, Normotriglyceridemic" RELATED [OMIM:615558]
xref: DOID:0111062 {source="MONDO:equivalentTo"}
xref: GARD:2876 {source="MONDO:GARD"}
xref: MEDGEN:1639219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566267 {source="MONDO:equivalentTo"}
xref: NANDO:1201037 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615558 {source="MONDO:equivalentTo", source="DOID:0111062"}
xref: Orphanet:426 {source="OMIM:615558"}
xref: SCTID:60193003 {source="MONDO:equivalentTo"}
xref: UMLS:C4551990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639219"}
is_a: MONDO:0017774 {source="DC-OMIM:615558", source="DOID:0111062", source="MESH:C566267/inferred", source="MONDO:Entailed", source="MONDO:Redundant"} ! hypobetalipoproteinemia
intersection_of: MONDO:0017774 ! hypobetalipoproteinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 ! APOB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 {source="MONDO:mim2gene_medgen"} ! APOB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014253
name: obsolete autoimmune lymphoproliferative syndrome type 3
def: "OBSOLETE. A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39577]
comment: This will be obsoleted in the 2022-04-01 release. The term will be split and the new IDs for this term will be MONDO:800023 (Type 3 Autoimmune Lymphoproliferative Syndrome) and MONDO:800024 (autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD).
synonym: "ALPS-U" EXACT [NCIT:C39577]
synonym: "ALPS3" EXACT ABBREVIATION [DOID:0110119, MONDO:Lexical, OMIM:615559]
synonym: "autoimmune lymphoproliferative syndrome caused by mutation in PRKCD" EXACT [MONDO:design_pattern]
synonym: "autoimmune lymphoproliferative syndrome type III" EXACT [DOID:0110119]
synonym: "autoimmune lymphoproliferative syndrome, type 3" RELATED [OMIM:615559]
synonym: "autoimmune lymphoproliferative syndrome, type III" RELATED [MONDO:Lexical, OMIM:615559]
synonym: "autoimmune lymphoproliferative syndrome-undetermined variant" EXACT [NCIT:C39577]
synonym: "common variable immunodeficiency 9" EXACT [DOID:0110119]
synonym: "CVID9" EXACT ABBREVIATION [DOID:0110119]
synonym: "immunodeficiency, common variable, 9" RELATED [OMIM:615559]
synonym: "immunodeficiency, common variable, 9, formerly" RELATED [OMIM:615559]
synonym: "PRKCD autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "type 3 ALPS" EXACT [NCIT:C39577]
xref: ICD10CM:D47.9 {source="DOID:0110119"}
xref: NANDO:2200743 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:3261 {source="OMIM:615559"}
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4098" xsd:anyURI
is_obsolete: true
consider: MONDO:8000023
consider: MONDO:8000024

[Term]
id: MONDO:0014254
name: otofaciocervical syndrome 2
def: "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:16503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OFC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615560]
synonym: "OTFCS2" RELATED ABBREVIATION [OMIM:615560]
synonym: "otofaciocervical syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615560]
synonym: "otofaciocervical syndrome caused by mutation in PAX1" EXACT [MONDO:design_pattern]
synonym: "otofaciocervical syndrome type 2" EXACT [MONDORULE:1, OMIM:615560]
synonym: "PAX1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16503 {source="MONDO:GARD"}
xref: MEDGEN:1782278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615560 {source="MONDO:equivalentTo"}
xref: Orphanet:2792 {source="OMIM:615560"}
xref: UMLS:C5442121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782278"}
is_a: MONDO:0008163 {source="MONDO:Redundant", source="OMIM:615560", source="Orphanet:2792/btnt"} ! otofaciocervical syndrome
intersection_of: MONDO:0008163 ! otofaciocervical syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8615 ! PAX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8615 {source="MONDO:mim2gene_medgen"} ! PAX1

[Term]
id: MONDO:0014255
name: complement factor b deficiency
synonym: "CFBD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615561]
synonym: "complement factor B deficiency" RELATED [OMIM:615561]
synonym: "complement factor b deficiency" EXACT [MONDO:Lexical, OMIM:615561]
xref: MEDGEN:816280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200797 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615561 {source="MONDO:equivalentTo"}
xref: UMLS:C3809950 {source="MEDGEN:816280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1037 {source="MONDO:mim2gene_medgen"} ! CFB

[Term]
id: MONDO:0014256
name: retinitis pigmentosa 67
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15988", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NEK2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 67" EXACT [MONDO:Lexical, OMIM:615565]
synonym: "retinitis pigmentosa caused by mutation in NEK2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 67" EXACT [DOID:0110359, MONDORULE:2, OMIM:615565]
synonym: "RP67" EXACT ABBREVIATION [DOID:0110359, MONDO:Lexical, OMIM:615565]
xref: DOID:0110359 {source="MONDO:equivalentTo"}
xref: GARD:15988 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110359", source="MONDO:relatedTo"}
xref: MEDGEN:816284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615565 {source="DOID:0110359", source="MONDO:equivalentTo"}
xref: UMLS:C3809954 {source="MONDO:equivalentTo", source="MEDGEN:816284", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:615565", source="DOID:0110359", source="MONDO:Redundant", source="OMIM:615565"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7745 ! NEK2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7745 {source="MONDO:mim2gene_medgen"} ! NEK2

[Term]
id: MONDO:0014257
name: nephrotic syndrome, type 9
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15989", source="MONDO:GARD"}
subset: rare
synonym: "COQ8B nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in COQ8B" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 9" EXACT [MONDO:Lexical, OMIM:615573]
synonym: "NPHS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615573]
xref: DOID:0080391 {source="MONDO:equivalentTo"}
xref: GARD:15989 {source="MONDO:GARD"}
xref: MEDGEN:816295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615573 {source="MONDO:equivalentTo"}
xref: Orphanet:656 {source="OMIM:615573"}
xref: UMLS:C3809965 {source="MONDO:equivalentTo", source="MEDGEN:816295", source="MONDO:MEDGEN"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:615573"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:615573"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19041 ! COQ8B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19041 {source="MONDO:mim2gene_medgen"} ! COQ8B

[Term]
id: MONDO:0014258
name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391376"}
subset: orphanet_rare {source="Orphanet:391376"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Asns deficiency" RELATED [OMIM:615574]
synonym: "ASNSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615574]
synonym: "asparagine synthetase deficiency" EXACT [MONDO:Lexical, OMIM:615574, Orphanet:391376]
synonym: "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" EXACT CLINGEN_LABEL []
xref: GARD:17617 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:391376", source="Orphanet:391376/attributed", source="Orphanet:391376/ntbt"}
xref: MEDGEN:816301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615574 {source="MONDO:equivalentTo", source="Orphanet:391376", source="Orphanet:391376/e"}
xref: Orphanet:391376 {source="MONDO:equivalentTo", source="OMIM:615574"}
xref: UMLS:C3809971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816301"}
is_a: MONDO:0002254 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/753 {source="MONDO:mim2gene_medgen"} ! ASNS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014259
name: neuronopathy, distal hereditary motor, type 2D
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18265", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FBXO38 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HMN 2D" RELATED [OMIM:615575]
synonym: "HMN2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615575]
synonym: "neuronopathy, distal hereditary motor caused by mutation in FBXO38" EXACT [MONDO:design_pattern]
synonym: "neuronopathy, distal hereditary motor, type IID" RELATED [MONDO:Lexical, OMIM:615575]
synonym: "neuropathy, distal hereditary motor, type 2D" RELATED [OMIM:615575]
synonym: "spinal muscular atrophy, distal, autosomal dominant, calf-predominant" RELATED [OMIM:615575]
xref: DOID:0111210 {source="MONDO:equivalentTo"}
xref: GARD:18265 {source="MONDO:GARD"}
xref: MEDGEN:854832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615575 {source="MONDO:equivalentTo"}
xref: Orphanet:139525 {source="OMIM:615575"}
xref: UMLS:C3888271 {source="MEDGEN:854832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015352 {source="Orphanet:139525/btnt"} ! distal hereditary motor neuropathy type 2
is_a: MONDO:0018894 {source="DC-OMIM:615575", source="MONDO:Redundant"} ! distal hereditary motor neuropathy
intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28844 ! FBXO38
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28844 {source="MONDO:mim2gene_medgen"} ! FBXO38

[Term]
id: MONDO:0014260
name: immunodeficiency, common variable, 10
def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15990", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "common variable immunodeficiency caused by mutation in NFKB2" EXACT [MONDO:design_pattern]
synonym: "CVID10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615577]
synonym: "Deficit in anterior pituitary function and variable immunodeficiency" RELATED [OMIM:615577]
synonym: "immunodeficiency, common variable, 10" EXACT [MONDO:Lexical, OMIM:615577]
synonym: "immunodeficiency, common variable, type 10" EXACT [MONDORULE:2, OMIM:615577]
synonym: "immunodeficiency, common variable, with central adrenal insufficiency" RELATED [OMIM:615577]
synonym: "NFKB2 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081152 {source="MONDO:equivalentTo"}
xref: GARD:15990 {source="MONDO:GARD"}
xref: MEDGEN:816321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615577 {source="MONDO:equivalentTo"}
xref: Orphanet:1572 {source="OMIM:615577"}
xref: Orphanet:293978 {source="OMIM:615577"}
xref: UMLS:C3809991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816321"}
is_a: MONDO:0015517 {source="DC-OMIM:615577", source="MONDO:Redundant", source="OMIM:615577"} ! common variable immunodeficiency
intersection_of: MONDO:0015517 ! common variable immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7795 ! NFKB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7795 {source="MONDO:mim2gene_medgen"} ! NFKB2

[Term]
id: MONDO:0014261
name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:17615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391348"}
subset: orphanet_rare {source="Orphanet:391348"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 18" RELATED [MONDO:Lexical, OMIM:615578]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in SFXN4" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 18" EXACT [MONDORULE:2, OMIM:615578]
synonym: "COXPD18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615578]
synonym: "SFXN4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111484 {source="MONDO:equivalentTo"}
xref: GARD:17615 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:391348/attributed", source="Orphanet:391348/ntbt", source="Orphanet:391348"}
xref: MEDGEN:816331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615578 {source="Orphanet:391348/e", source="MONDO:equivalentTo", source="Orphanet:391348"}
xref: Orphanet:391348 {source="OMIM:615578", source="MONDO:equivalentTo"}
xref: UMLS:C3810001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816331"}
is_a: MONDO:0000732 {source="DC-OMIM:615578", source="MONDO:Redundant", source="OMIM:615578"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16088 {source="MONDO:mim2gene_medgen"} ! SFXN4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16088 {source="MONDO:mim2gene_medgen"} ! SFXN4

[Term]
id: MONDO:0014262
name: Rienhoff syndrome
def: "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." [EFO:1000012]
subset: gard_rare {source="GARD:12356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LDS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615582]
synonym: "Loeys-Dietz syndrome 5" RELATED [MONDO:Lexical, OMIM:615582]
synonym: "Loeys-Dietz syndrome type 5" EXACT [MONDORULE:1, OMIM:615582]
synonym: "Rienhoff syndrome" EXACT CLINGEN_LABEL [OMIM:615582]
xref: DOID:0070236 {source="MONDO:equivalentTo"}
xref: EFO:1000012 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12356 {source="MONDO:GARD"}
xref: MEDGEN:816342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615582 {source="EFO:1000012", source="MONDO:equivalentTo"}
xref: UMLS:C3810012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816342"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0018954 {source="EFO:1000012", source="OMIM:615582"} ! Loeys-Dietz syndrome
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615582"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11769 {source="MONDO:mim2gene_medgen"} ! TGFB3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome" xsd:anyURI {source="GARD:0012356"}

[Term]
id: MONDO:0014263
name: 8q24.3 microdeletion syndrome
subset: gard_rare {source="GARD:12814", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508488"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:508488"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 8Q24.3 deletion syndrome" RELATED [OMIM:615583]
synonym: "Verheij syndrome" EXACT [MONDO:Lexical, OMIM:615583]
synonym: "VRJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615583]
xref: GARD:12814 {source="MONDO:GARD"}
xref: MEDGEN:816353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615583 {source="MONDO:equivalentTo", source="Orphanet:508488"}
xref: Orphanet:508488 {source="MONDO:equivalentTo"}
xref: UMLS:C3810023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816353"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015159 {source="Orphanet:508488"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016907 {source="Orphanet:508488"} ! partial deletion of the long arm of chromosome 8
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8q24.3 ! 8q24.3 (Human)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17042 {source="MONDO:mim2gene_medgen"} ! PUF60
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0014264
name: otosclerosis 10
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "otosclerosis 10" EXACT [MONDO:Lexical, OMIM:615589]
synonym: "OTSC10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615589]
xref: DOID:0060927 {source="MONDO:equivalentTo"}
xref: MEDGEN:854867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615589 {source="MONDO:equivalentTo"}
xref: Orphanet:2794 {source="OMIM:615589"}
xref: UMLS:C3888339 {source="MEDGEN:854867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005349 {source="DC-OMIM:615589", source="OMIM:615589"} ! otosclerosis

[Term]
id: MONDO:0014265
name: Alzheimer disease 18
def: "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AD18" EXACT ABBREVIATION [DOID:0110050, MONDO:Lexical, OMIM:615590]
synonym: "ADAM10 Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Alzheimer disease 18" EXACT [DOID:0110050, MONDO:Lexical, OMIM:615590]
synonym: "Alzheimer disease 18, late-onset" RELATED [OMIM:615590]
synonym: "Alzheimer disease 18, susceptibility to" RELATED [OMIM:615590, OMIM:genemap2]
synonym: "Alzheimer disease caused by mutation in ADAM10" EXACT [MONDO:design_pattern]
synonym: "Alzheimer disease type 18" EXACT [MONDORULE:2, OMIM:615590]
synonym: "Alzheimer's disease 18" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 18" EXACT [DOID:0110050, MONDORULE:2]
xref: DOID:0110050 {source="MONDO:equivalentTo"}
xref: MEDGEN:816371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615590 {source="MONDO:equivalentTo", source="DOID:0110050"}
xref: UMLS:C3810041 {source="MEDGEN:816371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004975 {source="DC-OMIM:615590", source="DOID:0110050", source="MONDO:Redundant"} ! Alzheimer disease
intersection_of: MONDO:0004975 ! Alzheimer disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/188 ! ADAM10
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/188 {source="MONDO:mim2gene_medgen"} ! ADAM10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014266
name: age related macular degeneration 15
def: "An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the C9 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility]
synonym: "age related macular degeneration type 15" EXACT [DOID:0110027, MONDORULE:2]
synonym: "age-related macular degeneration caused by mutation in C9" EXACT [MONDO:design_pattern]
synonym: "ARMD15" EXACT ABBREVIATION [DOID:0110027, MONDO:Lexical, OMIM:615591]
synonym: "C9 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular degeneration, age-related, 15" RELATED [MONDO:Lexical, OMIM:615591]
synonym: "macular degeneration, age-related, 15, susceptibility to" EXACT [OMIM:615591, OMIM:genemap2]
synonym: "macular degeneration, age-related, type 15" EXACT [MONDORULE:2, OMIM:615591]
xref: DOID:0110027 {source="MONDO:equivalentTo"}
xref: MEDGEN:816372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615591 {source="DOID:0110027", source="MONDO:equivalentTo"}
xref: UMLS:C3810042 {source="MONDO:equivalentTo", source="MEDGEN:816372", source="MONDO:MEDGEN"}
is_a: MONDO:0100174 {source="OMIM:615591"} ! age related macular degeneration, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1358 ! C9
intersection_of: predisposes_towards MONDO:0005150 ! age-related macular degeneration
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005150 {source="DC-OMIM:615591", source="DOID:0110027", source="MONDO:Redundant", source="OMIM:615591", source="https://orcid.org/0000-0001-5208-3432"} ! age-related macular degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1358 {source="MONDO:mim2gene_medgen"} ! C9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014267
name: severe combined immunodeficiency due to IKK2 deficiency
def: "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present." [Orphanet:397787]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397787"}
subset: orphanet_rare {source="Orphanet:397787"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615592]
synonym: "immunodeficiency 15" RELATED [MONDO:Lexical, OMIM:615592]
synonym: "immunodeficiency 15B" EXACT [OMIM:615592, OMIM:genemap2]
synonym: "immunodeficiency type 15" EXACT [MONDORULE:2, OMIM:615592]
synonym: "SCID due to IKK2 deficiency" EXACT [Orphanet:397787]
xref: DOID:0111959 {source="MONDO:equivalentTo"}
xref: GARD:17641 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:397787", source="Orphanet:397787/attributed", source="Orphanet:397787/ntbt"}
xref: MEDGEN:1648569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615592 {source="MONDO:equivalentTo", source="Orphanet:397787", source="Orphanet:397787/e"}
xref: Orphanet:397787 {source="MONDO:equivalentTo", source="OMIM:615592"}
xref: UMLS:C4747743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648569"}
is_a: MONDO:0044201 {source="Orphanet:397787"} ! T+ B+ severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5960 {source="MONDO:mim2gene_medgen"} ! IKBKB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014268
name: combined immunodeficiency due to OX40 deficiency
def: "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma." [Orphanet:431149]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17710", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431149"}
subset: orphanet_rare {source="Orphanet:431149"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [Orphanet:431149]
synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [Orphanet:431149]
synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT [Orphanet:431149]
synonym: "IMD16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615593]
synonym: "immunodeficiency 16" RELATED [MONDO:Lexical, OMIM:615593]
synonym: "immunodeficiency type 16" EXACT [MONDORULE:2, OMIM:615593]
synonym: "OX40 deficiency" RELATED [OMIM:615593]
xref: DOID:0111935 {source="MONDO:equivalentTo"}
xref: GARD:17710 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:431149", source="Orphanet:431149/attributed", source="Orphanet:431149/ntbt"}
xref: MEDGEN:816383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615593 {source="MONDO:equivalentTo", source="Orphanet:431149", source="Orphanet:431149/e"}
xref: Orphanet:431149 {source="MONDO:equivalentTo", source="OMIM:615593"}
xref: SCTID:766879006 {source="MONDO:equivalentTo"}
xref: UMLS:C3810053 {source="MONDO:equivalentTo", source="MEDGEN:816383", source="MONDO:MEDGEN"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:615593"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:431149", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:431149", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11918 {source="MONDO:mim2gene_medgen"} ! TNFRSF4

[Term]
id: MONDO:0014269
name: combined oxidative phosphorylation deficiency 19
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18466", source="MONDO:GARD"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 19" EXACT [MONDO:Lexical, OMIM:615595]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in LYRM4" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 19" EXACT [MONDORULE:2, OMIM:615595]
synonym: "COXPD19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615595]
synonym: "LYRM4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" EXACT [Orphanet:397593]
xref: DOID:0111476 {source="MONDO:equivalentTo"}
xref: GARD:18466 {source="MONDO:GARD"}
xref: MEDGEN:816385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615595 {source="MONDO:equivalentTo"}
xref: Orphanet:397593 {source="MONDO:equivalentTo", source="OMIM:615595"}
xref: UMLS:C3810055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816385"}
is_a: MONDO:0000732 {source="DC-OMIM:615595", source="MONDO:Redundant", source="OMIM:615595"} ! combined oxidative phosphorylation deficiency
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21365 ! LYRM4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21365 {source="MONDO:mim2gene_medgen"} ! LYRM4

[Term]
id: MONDO:0014270
name: STT3A-congenital disorder of glycosylation
def: "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)." [Orphanet:370921]
subset: gard_rare {source="GARD:17602", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370921"}
subset: orphanet_rare {source="Orphanet:370921"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDG Iw" RELATED [OMIM:615596]
synonym: "CDG syndrome type Iw" EXACT [Orphanet:370921]
synonym: "CDG-Iw" EXACT [Orphanet:370921]
synonym: "CDG1W" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615596, Orphanet:370921]
synonym: "congenital disorder of glycosylation type 1w" EXACT [Orphanet:370921]
synonym: "congenital disorder of glycosylation type Iw" EXACT [Orphanet:370921]
synonym: "congenital disorder of glycosylation, type Iw" RELATED [MONDO:Lexical, OMIM:615596]
synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" EXACT [OMIM:615596, OMIM:genemap2]
synonym: "STT3A-CDG" EXACT ABBREVIATION [Orphanet:370921]
synonym: "STT3A-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0080572 {source="MONDO:equivalentTo"}
xref: GARD:17602 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:370921/attributed", source="Orphanet:370921/ntbt", source="Orphanet:370921"}
xref: MEDGEN:1794145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615596 {source="Orphanet:370921/e", source="MONDO:equivalentTo", source="Orphanet:370921"}
xref: Orphanet:370921 {source="MONDO:equivalentTo", source="OMIM:615596"}
xref: SCTID:733111000 {source="MONDO:equivalentTo"}
xref: UMLS:C5561935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794145"}
is_a: MONDO:0005500 {source="DC-OMIM:615596"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MONDO:0014270/inferred", source="MONDO:Redundant", source="OMIM:615596", source="Orphanet:370921/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:370921"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6172 {source="MONDO:mim2gene_medgen"} ! STT3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014271
name: STT3B-congenital disorder of glycosylation
def: "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)." [Orphanet:370924]
subset: gard_rare {source="GARD:17603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370924"}
subset: orphanet_rare {source="Orphanet:370924"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IX" EXACT [Orphanet:370924]
synonym: "CDG IX" RELATED [OMIM:615597]
synonym: "CDG syndrome type IX" EXACT [Orphanet:370924]
synonym: "CDG-Ix" EXACT [Orphanet:370924]
synonym: "CDG1X" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615597, Orphanet:370924]
synonym: "congenital disorder of glycosylation type 1x" EXACT [Orphanet:370924]
synonym: "congenital disorder of glycosylation type IX" EXACT [Orphanet:370924]
synonym: "congenital disorder of glycosylation, type IX" RELATED [MONDO:Lexical, OMIM:615597]
synonym: "STT3B-CDG" EXACT ABBREVIATION [Orphanet:370924]
synonym: "STT3B-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
xref: DOID:0080573 {source="MONDO:equivalentTo"}
xref: GARD:17603 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:370924", source="Orphanet:370924/attributed", source="Orphanet:370924/ntbt"}
xref: MEDGEN:419309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535751 {source="MONDO:equivalentTo"}
xref: OMIM:615597 {source="Orphanet:370924", source="MONDO:equivalentTo", source="Orphanet:370924/e"}
xref: Orphanet:370924 {source="OMIM:615597", source="MONDO:equivalentTo"}
xref: SCTID:733112007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931007 {source="MEDGEN:419309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005500 {source="DC-OMIM:615597"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MESH:C535751", source="MONDO:0014271/inferred", source="MONDO:Redundant", source="OMIM:615597", source="Orphanet:370924/inferred"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:370924"} ! disorder of protein N-glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30611 {source="MONDO:mim2gene_medgen"} ! STT3B

[Term]
id: MONDO:0014272
name: palmoplantar keratoderma, Nagashima type
def: "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda." [Orphanet:140966]
subset: gard_rare {source="GARD:16967", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140966"}
subset: orphanet_rare {source="Orphanet:140966"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "palmoplantar hyperkeratosis, Nagashima type" EXACT [Orphanet:140966]
synonym: "palmoplantar keratoderma, Nagashima type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615598]
synonym: "PPK, Nagashima type" EXACT [Orphanet:140966]
synonym: "PPKN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615598]
xref: GARD:16967 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:140966/attributed", source="Orphanet:140966/ntbt", source="Orphanet:140966"}
xref: MEDGEN:816402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615598 {source="Orphanet:140966/e", source="MONDO:equivalentTo", source="Orphanet:140966"}
xref: Orphanet:140966 {source="OMIM:615598", source="MONDO:equivalentTo"}
xref: SCTID:722205008 {source="MONDO:equivalentTo"}
xref: UMLS:C3810072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816402"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:615598", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nonepidermolytic palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13902 {source="MONDO:mim2gene_medgen"} ! SERPINB7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014273
name: microcephaly-thin corpus callosum-intellectual disability syndrome
def: "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." [Orphanet:397951]
subset: gard_rare {source="GARD:17645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397951"}
subset: orphanet_rare {source="Orphanet:397951"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, autosomal recessive 40" EXACT [OMIM:615599, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 40" RELATED [MONDO:Lexical, OMIM:615599]
synonym: "intellectual disability, autosomal recessive type 40" EXACT [MONDORULE:2, OMIM:615599]
synonym: "mental retardation, autosomal recessive 40" RELATED DEPRECATED [MONDO:Lexical, OMIM:615599]
synonym: "mental retardation, autosomal recessive type 40" EXACT DEPRECATED [MONDORULE:2, OMIM:615599]
synonym: "microcephaly-thin corpus callosum-intellectual disability syndrome" EXACT CLINGEN_LABEL []
synonym: "MRT40" RELATED DEPRECATED [MONDO:Lexical, OMIM:615599]
xref: DOID:0081205 {source="MONDO:equivalentTo"}
xref: GARD:17645 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:397951", source="Orphanet:397951/attributed", source="Orphanet:397951/ntbt"}
xref: MEDGEN:816410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615599 {source="MONDO:equivalentTo", source="Orphanet:397951", source="Orphanet:397951/e"}
xref: Orphanet:397951 {source="OMIM:615599", source="MONDO:equivalentTo"}
xref: UMLS:C3810080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816410"}
is_a: MONDO:0015159 {source="Orphanet:397951"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397951", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11536 {source="MONDO:mim2gene_medgen"} ! TAF2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014274
name: L-ferritin deficiency
subset: gard_rare {source="GARD:17748", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_biological_anomaly {source="Orphanet:440731"}
subset: ordo_disorder {source="Orphanet:440731"}
subset: orphanet_rare {source="Orphanet:440731"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "L-ferritin deficiency" EXACT [MONDO:Lexical, OMIM:615604]
synonym: "L-ferritin deficiency, dominant and recessive" EXACT [OMIM:615604, OMIM:genemap2]
synonym: "LFTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615604]
xref: GARD:17748 {source="MONDO:GARD"}
xref: MEDGEN:816420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615604 {source="MONDO:equivalentTo", source="Orphanet:440731", source="Orphanet:440731/e"}
xref: Orphanet:440731 {source="MONDO:equivalentTo"}
xref: UMLS:C3810090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816420"}
is_a: MONDO:0005570 {source="Orphanet:440731"} ! hematologic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015549"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3999 {source="MONDO:mim2gene_medgen"} ! FTL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014275
name: Fanconi renotubular syndrome 3
def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15991", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EHHADH Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi renotubular syndrome 3" EXACT [MONDO:Lexical, OMIM:615605]
synonym: "Fanconi renotubular syndrome type 3" EXACT [MONDORULE:1, OMIM:615605]
synonym: "Fanconi syndrome caused by mutation in EHHADH" EXACT [MONDO:design_pattern]
synonym: "FRTS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615605]
xref: DOID:0080759 {source="MONDO:equivalentTo"}
xref: GARD:15991 {source="MONDO:GARD"}
xref: MEDGEN:816430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615605 {source="MONDO:equivalentTo"}
xref: Orphanet:3337 {source="OMIM:615605"}
xref: UMLS:C3810100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816430"}
is_a: MONDO:0007600 {source="Orphanet:3337/btnt"} ! primary Fanconi syndrome
is_a: MONDO:0100238 {source="MONDO:Redundant", source="OMIM:615605"} ! inherited Fanconi renotubular syndrome
intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3247 ! EHHADH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3247 {source="MONDO:mim2gene_medgen"} ! EHHADH

[Term]
id: MONDO:0014276
name: combined immunodeficiency due to CD3gamma deficiency
def: "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." [Orphanet:169082]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17046", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169082"}
subset: orphanet_rare {source="Orphanet:169082"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD3 deficiency" EXACT [GARD:0009521]
synonym: "CD3-gamma deficiency" EXACT [OMIM:615607]
synonym: "CD3gamma deficiency" EXACT [MONDO:0000578]
synonym: "combined immunodeficiency due to CD3gamma deficiency" EXACT CLINGEN_LABEL []
synonym: "IMD17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615607]
synonym: "immunodeficiency 17" EXACT [MONDO:Lexical, OMIM:615607]
synonym: "immunodeficiency 17, CD3 gamma deficient" EXACT [OMIM:615607, OMIM:genemap2]
synonym: "immunodeficiency type 17" EXACT [MONDORULE:2, OMIM:615607]
synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" EXACT [OMIM:615607]
xref: DOID:0060018 {source="MONDO:equivalentTo"}
xref: DOID:0111973 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:17046 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:169082", source="Orphanet:169082/attributed", source="Orphanet:169082/ntbt"}
xref: MEDGEN:816437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615607 {source="MONDO:equivalentTo", source="Orphanet:169082", source="Orphanet:169082/e"}
xref: Orphanet:169082 {source="MONDO:equivalentTo", source="OMIM:615607"}
xref: SCTID:725135004 {source="MONDO:equivalentTo"}
xref: UMLS:C3810107 {source="MEDGEN:816437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:615607"} ! immunodeficiency disease
relationship: disease_has_feature HP:0002721 ! Immunodeficiency
relationship: disease_has_feature HP:0004430 ! Severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0015974 {source="DOID:0060018", source="https://github.com/monarch-initiative/mondo-build/issues/108", source="https://orcid.org/0000-0001-5208-3432"} ! severe combined immunodeficiency
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:169082", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1675 {source="MONDO:mim2gene_medgen"} ! CD3G
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency" xsd:anyURI {source="GARD:0009521"}

[Term]
id: MONDO:0014277
name: developmental dysplasia of the hip 2
synonym: "DDH2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615612]
synonym: "developmental dysplasia of the hip 2" EXACT [MONDO:Lexical, OMIM:615612]
xref: DOID:0060932 {source="MONDO:equivalentTo"}
xref: MEDGEN:811575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615612 {source="MONDO:equivalentTo"}
xref: UMLS:C3715079 {source="MEDGEN:811575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000158 {source="DC-OMIM:615612", source="OMIM:615612"} ! developmental dysplasia of the hip
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0014278
name: immunodeficiency 18
def: "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." [PMID:15546002]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD3-Epsilon deficiency" EXACT [OMIM:615615]
synonym: "IMD18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615615]
synonym: "immunodeficiency 18" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615615]
synonym: "immunodeficiency 18, SCID variant" EXACT [OMIM:615615]
synonym: "immunodeficiency 18, Severe combined immunodeficiency variant" EXACT [OMIM:615615]
synonym: "immunodeficiency type 18" EXACT [MONDORULE:2, OMIM:615615]
xref: DOID:0060017 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0111971 {source="MONDO:equivalentTo"}
xref: GARD:18295 {source="MONDO:GARD"}
xref: MEDGEN:816457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615615 {source="MONDO:equivalentTo"}
xref: Orphanet:169160 {source="OMIM:615615"}
xref: UMLS:C3810127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816457"}
is_a: MONDO:0015703 {source="Orphanet:169160/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
is_a: MONDO:0031520 {source="DOID:0060017"} ! familial severe combined immunodeficiency
is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1674 {source="MONDO:mim2gene_medgen"} ! CD3E

[Term]
id: MONDO:0014279
name: obsolete arrhythmogenic right ventricular dysplasia, familial, 13
is_obsolete: true
replaced_by: MONDO:0000908

[Term]
id: MONDO:0014280
name: immunodeficiency 19
def: "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CD3-Delta deficiency" RELATED [OMIM:615617]
synonym: "CD3D" EXACT ABBREVIATION [DOID:0060016]
synonym: "CD3D severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "CD3delta deficiency" EXACT [MONDO:0000576]
synonym: "IMD19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615617]
synonym: "immunodeficiency 19" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615617]
synonym: "immunodeficiency type 19" EXACT [MONDORULE:2, OMIM:615617]
synonym: "SCID, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:615617]
synonym: "severe combined immunodeficiency (disease) caused by mutation in CD3D" EXACT []
synonym: "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:615617]
xref: DOID:0060016 {source="MONDO:equivalentTo"}
xref: DOID:0111972 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:18296 {source="MONDO:GARD"}
xref: MEDGEN:816477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615617 {source="MONDO:equivalentTo"}
xref: Orphanet:169160 {source="OMIM:615617"}
xref: UMLS:C3810147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816477"}
is_a: MONDO:0015703 {source="Orphanet:169160/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
is_a: MONDO:0031520 {source="DOID:0060016", source="MONDO:Redundant", source="MONDO:indirect"} ! familial severe combined immunodeficiency
is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency
intersection_of: MONDO:0015974 ! severe combined immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1673 ! CD3D
relationship: disease_has_feature HP:0004430 ! Severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1673 {source="MONDO:mim2gene_medgen"} ! CD3D

[Term]
id: MONDO:0014281
name: cholangiocarcinoma, susceptibility to
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "Chlc, susceptibility to" RELATED [OMIM:615619]
synonym: "cholangiocarcinoma, susceptibility to" EXACT [OMIM:615619]
xref: MEDGEN:816486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615619 {source="MONDO:equivalentTo"}
xref: Orphanet:70567 {source="OMIM:615619"}
xref: UMLS:C3810156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816486"}
is_a: MONDO:0020573 ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0019087 {source="Orphanet:70567/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! cholangiocarcinoma
relationship: predisposes_towards MONDO:0019087 {source="Orphanet:70567/btnt"} ! cholangiocarcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0014282
name: hereditary spastic paraplegia 72
def: "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance
subset: gard_rare {source="GARD:17660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401849"}
subset: ordo_inheritance_inconsistent
subset: orphanet_rare {source="Orphanet:401849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal spastic paraplegia type 72" EXACT [DOID:0110817]
synonym: "hereditary spastic paraplegia type 72" EXACT [DOID:0110817, MONDORULE:2]
synonym: "pure hereditary spastic paraplegia caused by mutation in REEP2" EXACT [MONDO:design_pattern]
synonym: "REEP2 pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 72, autosomal dominant" NARROW [OMIM:615625, OMIM:genemap2]
synonym: "spastic paraplegia 72, autosomal recessive" NARROW [OMIM:615625, OMIM:genemap2]
synonym: "SPG72" EXACT ABBREVIATION [DOID:0110817, OMIM:615625, Orphanet:401849]
xref: DOID:0110817 {source="MONDO:equivalentTo"}
xref: GARD:17660 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110817", source="Orphanet:401849/attributed", source="Orphanet:401849/ntbt", source="Orphanet:401849"}
xref: MEDGEN:816490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615625 {source="Orphanet:401849/e", source="MONDO:equivalentTo", source="DOID:0110817", source="Orphanet:401849"}
xref: Orphanet:401849 {source="MONDO:equivalentTo", source="OMIM:615625", source="DOID:0110817"}
xref: UMLS:C3810160 {source="MEDGEN:816490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015149 {source="MONDO:Redundant", source="Orphanet:401849/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! pure hereditary spastic paraplegia
intersection_of: MONDO:0015149 ! pure hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17975 ! REEP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17975 {source="MONDO:mim2gene_medgen"} ! REEP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014283
name: autosomal dominant nonsyndromic hearing loss 56
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 56" NARROW [DOID:0110581]
synonym: "autosomal dominant nonsyndromic deafness 56" NARROW [OMIM:615629]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TNC" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 56" NARROW [DOID:0110581, MONDORULE:2]
synonym: "deafness, autosomal dominant 56" NARROW [MONDO:Lexical, OMIM:615629, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 56" NARROW [MONDORULE:2, OMIM:615629]
synonym: "DFNA56" NARROW ABBREVIATION [DOID:0110581, MONDO:Lexical, OMIM:615629]
synonym: "TNC autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110581 {source="MONDO:equivalentTo"}
xref: GARD:18137 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110581"}
xref: MEDGEN:816500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615629 {source="MONDO:equivalentTo", source="DOID:0110581"}
xref: UMLS:C3810170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816500"}
is_a: MONDO:0019587 {source="DC-OMIM:615629", source="DOID:0110581", source="MONDO:Redundant", source="OMIM:615629"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5318 ! TNC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5318 {source="MONDO:mim2gene_medgen"} ! TNC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014284
name: short-rib thoracic dysplasia 10 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." [DOID:0110091, PMID:24140113]
subset: gard_rare {source="GARD:15993", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short-rib thoracic dysplasia 10 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615630]
synonym: "SRTD10" EXACT ABBREVIATION [DOID:0110091, MONDO:Lexical, OMIM:615630]
xref: DOID:0110091 {source="MONDO:equivalentTo"}
xref: GARD:15993 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110091"}
xref: ICD10CM:Q87.5 {source="DOID:0110091"}
xref: MEDGEN:816505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615630 {source="DOID:0110091", source="MONDO:equivalentTo"}
xref: Orphanet:140969 {source="OMIM:615630"}
xref: Orphanet:474 {source="OMIM:615630"}
xref: UMLS:C3810175 {source="MEDGEN:816505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018770 {source="DOID:0110091", source="OMIM:615630"} ! Jeune syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30391 {source="MONDO:mim2gene_medgen"} ! IFT172

[Term]
id: MONDO:0014285
name: congenital dyserythropoietic anemia type type 1B
subset: gard_rare {source="GARD:15994", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anemia, congenital dyserythropoietic, type IB" EXACT [MONDO:Lexical, OMIM:615631]
synonym: "CDA, type IB" RELATED [OMIM:615631]
synonym: "CDAN1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615631]
synonym: "congenital dyserythropoietic anemia type type 1B" EXACT CLINGEN_LABEL []
synonym: "dyserythropoietic anemia, congenital, type IB" EXACT [OMIM:615631, OMIM:genemap2]
xref: DOID:0111397 {source="MONDO:equivalentTo"}
xref: GARD:15994 {source="MONDO:GARD"}
xref: MEDGEN:816515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615631 {source="MONDO:equivalentTo"}
xref: Orphanet:98869 {source="OMIM:615631"}
xref: UMLS:C3810185 {source="MEDGEN:816515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019403 {source="MONDO:Redundant", source="OMIM:615631"} ! congenital dyserythropoietic anemia
is_a: MONDO:0020337 {source="Orphanet:98869/btnt"} ! congenital dyserythropoietic anemia type 1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26929 {source="MONDO:mim2gene_medgen"} ! CDIN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014286
name: neuropathy, hereditary sensory, type 1F
def: "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATL3 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3" EXACT [MONDO:design_pattern]
synonym: "hereditary sensory neuropathy type 1F" RELATED [DOID:0070154]
synonym: "hereditary sensory neuropathy type IF" EXACT [DOID:0070154]
synonym: "HSN 1F" RELATED [OMIM:615632]
synonym: "HSN1F" EXACT ABBREVIATION [DOID:0070154, MONDO:Lexical, OMIM:615632]
synonym: "neuropathy, hereditary sensory, type 1F" EXACT CLINGEN_LABEL []
synonym: "neuropathy, hereditary sensory, type IF" RELATED [MONDO:Lexical, OMIM:615632]
xref: DOID:0070154 {source="MONDO:equivalentTo"}
xref: GARD:15995 {source="MONDO:GARD"}
xref: MEDGEN:816524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615632 {source="DOID:0070154", source="MONDO:equivalentTo"}
xref: Orphanet:36386 {source="OMIM:615632"}
xref: UMLS:C3810194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816524"}
is_a: MONDO:0018213 {source="DOID:0070154", source="MONDO:Redundant", source="Orphanet:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1
intersection_of: MONDO:0018213 ! hereditary sensory and autonomic neuropathy type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24526 ! ATL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24526 {source="MONDO:mim2gene_medgen"} ! ATL3

[Term]
id: MONDO:0014287
name: short-rib thoracic dysplasia 11 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34." [DOID:0110095, PMID:24183449]
subset: gard_rare {source="GARD:15996", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short-rib thoracic dysplasia 11 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615633]
synonym: "SRTD11" EXACT ABBREVIATION [DOID:0110095, MONDO:Lexical, OMIM:615633]
xref: DOID:0110095 {source="MONDO:equivalentTo"}
xref: GARD:15996 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110095"}
xref: MEDGEN:816530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615633 {source="DOID:0110095", source="MONDO:equivalentTo"}
xref: Orphanet:474 {source="OMIM:615633"}
xref: Orphanet:93271 {source="OMIM:615633"}
xref: UMLS:C3810200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816530"}
is_a: MONDO:0018770 {source="DOID:0110095", source="OMIM:615633"} ! Jeune syndrome
relationship: excluded_subClassOf MONDO:0013127 {source="Orphanet:93271/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! asphyxiating thoracic dystrophy 3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28296 {source="MONDO:mim2gene_medgen"} ! DYNC2I2

[Term]
id: MONDO:0014288
name: Joubert syndrome 21
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15997", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CSPP1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS21" EXACT ABBREVIATION [DOID:0110990, MONDO:Lexical, OMIM:615636]
synonym: "Joubert syndrome 21" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615636]
synonym: "Joubert syndrome caused by mutation in CSPP1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 21" EXACT [DOID:0110990, MONDORULE:2, OMIM:615636]
xref: DOID:0110990 {source="MONDO:equivalentTo"}
xref: GARD:15997 {source="MONDO:GARD"}
xref: MEDGEN:816542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615636 {source="MONDO:equivalentTo", source="DOID:0110990"}
xref: Orphanet:397715 {source="OMIM:615636"}
xref: Orphanet:475 {source="OMIM:615636"}
xref: UMLS:C3810212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816542"}
is_a: MONDO:0018342 {source="Orphanet:Inferred"} ! Joubert syndrome with Jeune asphyxiating thoracic dystrophy
is_a: MONDO:0018772 {source="DC-OMIM:615636", source="DOID:0110990", source="MONDO:Redundant", source="OMIM:615636"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26193 ! CSPP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26193 {source="MONDO:mim2gene_medgen"} ! CSPP1

[Term]
id: MONDO:0014289
name: macrocephaly-developmental delay syndrome
def: "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." [Orphanet:397612]
subset: gard_rare {source="GARD:17630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397612"}
subset: ordo_malformation_syndrome {source="Orphanet:397612"}
subset: orphanet_rare {source="Orphanet:397612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, autosomal recessive 41" RELATED [MONDO:Lexical, OMIM:615637]
synonym: "intellectual disability, autosomal recessive type 41" EXACT [MONDORULE:2, OMIM:615637]
synonym: "mental retardation, autosomal recessive 41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637]
synonym: "mental retardation, autosomal recessive type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:615637]
synonym: "MRT41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637]
xref: DOID:0081206 {source="MONDO:equivalentTo"}
xref: GARD:17630 {source="MONDO:GARD"}
xref: ICD10CM:Q75.3 {source="Orphanet:397612", source="Orphanet:397612/attributed", source="Orphanet:397612/ntbt"}
xref: MEDGEN:816555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615637 {source="MONDO:equivalentTo", source="Orphanet:397612", source="Orphanet:397612/e"}
xref: Orphanet:397612 {source="MONDO:equivalentTo", source="OMIM:615637"}
xref: UMLS:C3810225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816555"}
is_a: MONDO:0015159 {source="Orphanet:397612"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397612", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6404 {source="MONDO:mim2gene_medgen"} ! KPTN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014290
name: neurodegeneration with brain iron accumulation 6
def: "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." [Orphanet:397725]
subset: gard_rare {source="GARD:12571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397725"}
subset: orphanet_rare {source="Orphanet:397725"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COASY neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "COASY protein-associated neurodegeneration" RELATED [Orphanet:397725]
synonym: "CoPAN" EXACT [DOID:0110740, Orphanet:397725]
synonym: "NBIA6" EXACT ABBREVIATION [DOID:0110740, MONDO:Lexical, OMIM:615643, Orphanet:397725]
synonym: "neurodegeneration with brain iron accumulation 6" EXACT [MONDO:Lexical, OMIM:615643]
synonym: "neurodegeneration with brain iron accumulation caused by mutation in COASY" EXACT [MONDO:design_pattern]
synonym: "neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [DOID:0110740, Orphanet:397725]
synonym: "neurodegeneration with brain iron accumulation type 6" EXACT [DOID:0110740, MONDORULE:1, OMIM:615643]
xref: DOID:0110740 {source="MONDO:equivalentTo"}
xref: GARD:12571 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:397725", source="Orphanet:397725/attributed", source="Orphanet:397725/ntbt", source="DOID:0110740"}
xref: MEDGEN:1387791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615643 {source="Orphanet:397725/e", source="MONDO:equivalentTo", source="Orphanet:397725", source="DOID:0110740"}
xref: Orphanet:397725 {source="OMIM:615643", source="MONDO:equivalentTo", source="DOID:0110740"}
xref: SCTID:732264002 {source="MONDO:equivalentTo"}
xref: UMLS:C4517377 {source="MEDGEN:1387791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018307 {source="DC-OMIM:615643", source="DOID:0110740", source="MONDO:Redundant", source="OMIM:615643", source="Orphanet:397725"} ! neurodegeneration with brain iron accumulation
intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29932 ! COASY
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29932 {source="MONDO:mim2gene_medgen"} ! COASY

[Term]
id: MONDO:0014291
name: autosomal dominant nonsyndromic hearing loss 54
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31." [DOID:0110580, PMID:15490091]
subset: gard_rare {source="GARD:18138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 54" NARROW [DOID:0110580]
synonym: "autosomal dominant nonsyndromic deafness 54" NARROW [OMIM:615649]
synonym: "autosomal dominant nonsyndromic deafness type 54" NARROW [DOID:0110580, MONDORULE:2]
synonym: "deafness, autosomal dominant 54" NARROW [MONDO:Lexical, OMIM:615649, OMIM:genemap2]
synonym: "DFNA54" NARROW ABBREVIATION [DOID:0110580, MONDO:Lexical, OMIM:615649]
xref: DOID:0110580 {source="MONDO:equivalentTo"}
xref: GARD:18138 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110580"}
xref: MEDGEN:854731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615649 {source="MONDO:equivalentTo", source="DOID:0110580"}
xref: UMLS:C3888029 {source="MEDGEN:854731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:615649", source="DOID:0110580", source="OMIM:615649"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014292
name: leukoencephalopathy with mild cerebellar ataxia and white matter edema
subset: gard_rare {source="GARD:17565", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363540"}
subset: orphanet_rare {source="Orphanet:363540"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukoencephalopathy with ataxia" RELATED [MONDO:Lexical, OMIM:615651]
synonym: "LKPAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615651]
xref: GARD:17565 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:363540", source="Orphanet:363540/attributed", source="Orphanet:363540/ntbt"}
xref: MEDGEN:1638681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C171603 {source="MONDO:equivalentTo"}
xref: OMIM:615651 {source="Orphanet:363540", source="MONDO:equivalentTo", source="Orphanet:363540/e"}
xref: Orphanet:363540 {source="MONDO:equivalentTo", source="OMIM:615651"}
xref: SCTID:768663003 {source="MONDO:equivalentTo"}
xref: UMLS:C4554120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638681"}
is_a: MONDO:0019046 {source="Orphanet:363540"} ! leukodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2020 {source="MONDO:mim2gene_medgen"} ! CLCN2

[Term]
id: MONDO:0014293
name: autosomal dominant nonsyndromic hearing loss 58
def: "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12." [DOID:0110582, PMID:19159392]
subset: gard_rare {source="GARD:18139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 58" NARROW [DOID:0110582]
synonym: "autosomal dominant nonsyndromic deafness 58" NARROW [OMIM:615654]
synonym: "autosomal dominant nonsyndromic deafness type 58" NARROW [DOID:0110582, MONDORULE:2]
synonym: "deafness, autosomal dominant 58" NARROW [MONDO:Lexical, OMIM:615654, OMIM:genemap2]
synonym: "DFNA58" NARROW ABBREVIATION [DOID:0110582, MONDO:Lexical, OMIM:615654]
xref: DOID:0110582 {source="MONDO:equivalentTo"}
xref: GARD:18139 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110582"}
xref: MEDGEN:854817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615654 {source="MONDO:equivalentTo", source="DOID:0110582"}
xref: UMLS:C3888210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854817"}
is_a: MONDO:0019587 {source="DC-OMIM:615654", source="DOID:0110582", source="OMIM:615654"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014294
name: chromosome 15q11.2 deletion syndrome
def: "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." [Orphanet:261183]
subset: gard_rare {source="GARD:10525", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261183"}
subset: ordo_malformation_syndrome {source="Orphanet:261183"}
subset: orphanet_rare {source="Orphanet:261183"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "15q11.2 BP1-BP2 microdeletion syndrome" EXACT [Orphanet:261183]
synonym: "15q11.2 microdeletion" RELATED [GARD:0010525]
synonym: "15q11.2 microdeletion syndrome" EXACT [DOID:0060393]
synonym: "chromosome 15q11.2 deletion" RELATED [GARD:0010525]
synonym: "chromosome 15q11.2 deletion syndrome" EXACT [OMIM:615656]
synonym: "chromosome 15q11.2 microdeletion" RELATED [GARD:0010525]
synonym: "Del(15)(q11.2)" EXACT [Orphanet:261183]
synonym: "monosomy 15q11.2" EXACT [Orphanet:261183]
xref: DOID:0060393 {source="MONDO:equivalentTo"}
xref: GARD:10525 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261183", source="Orphanet:261183/attributed", source="Orphanet:261183/ntbt"}
xref: MEDGEN:467404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557830 {source="DOID:0060393"}
xref: OMIM:615656 {source="Orphanet:261183", source="MONDO:equivalentTo", source="Orphanet:261183/e", source="DOID:0060393"}
xref: Orphanet:261183 {source="OMIM:615656", source="MONDO:equivalentTo", source="DOID:0060393"}
xref: UMLS:C3180937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:467404"}
is_a: MONDO:0000761 {source="DC-OMIM:615656", source="DOID:0060393"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016913 {source="Orphanet:261183"} ! partial deletion of the long arm of chromosome 15
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr15q11.2 ! 15q11.2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0014295
name: hereditary spastic paraplegia 57
def: "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." [Orphanet:431329]
subset: gard_rare {source="GARD:17712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431329"}
subset: orphanet_rare {source="Orphanet:431329"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 57" EXACT [DOID:0110809]
synonym: "autosomal recessive spastic paraplegia type 57" EXACT [DOID:0110809]
synonym: "hereditary spastic paraplegia caused by mutation in TFG" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 57" EXACT [DOID:0110809, MONDORULE:2]
synonym: "spastic paraplegia 57, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615658]
synonym: "spastic paraplegia due to partial TFG deficiency" EXACT [Orphanet:431329]
synonym: "SPG57" EXACT ABBREVIATION [DOID:0110809, MONDO:Lexical, OMIM:615658, Orphanet:431329]
synonym: "TFG hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110809 {source="MONDO:equivalentTo"}
xref: GARD:17712 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:431329/attributed", source="Orphanet:431329/ntbt", source="Orphanet:431329", source="DOID:0110809"}
xref: MEDGEN:811490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615658 {source="Orphanet:431329/e", source="MONDO:equivalentTo", source="Orphanet:431329", source="DOID:0110809"}
xref: Orphanet:431329 {source="MONDO:equivalentTo", source="OMIM:615658", source="DOID:0110809"}
xref: SCTID:723826007 {source="MONDO:equivalentTo"}
xref: UMLS:C3714897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811490"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110809", source="EFO:0009017/inferred", source="MONDO:Redundant", source="OMIM:615658", source="Orphanet:431329/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11758 ! TFG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11758 {source="MONDO:mim2gene_medgen"} ! TFG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014296
name: Warburg micro syndrome 4
def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "micro syndrome 4" EXACT [DOID:0110719]
synonym: "TBC1D20 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WARBM4" EXACT ABBREVIATION [DOID:0110719, MONDO:Lexical, OMIM:615663]
synonym: "WARBURG micro syndrome 4" RELATED [OMIM:615663]
synonym: "Warburg micro syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615663]
synonym: "Warburg micro syndrome caused by mutation in TBC1D20" EXACT [MONDO:design_pattern]
synonym: "Warburg micro syndrome type 4" EXACT [DOID:0110719, MONDORULE:1, OMIM:615663]
xref: DOID:0110719 {source="MONDO:equivalentTo"}
xref: GARD:15998 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="DOID:0110719"}
xref: MEDGEN:816595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615663 {source="MONDO:equivalentTo", source="DOID:0110719"}
xref: Orphanet:2510 {source="OMIM:615663"}
xref: UMLS:C3810265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816595"}
is_a: MONDO:0016649 {source="DC-OMIM:615663", source="DOID:0110719", source="MONDO:Redundant", source="OMIM:615663"} ! Warburg micro syndrome
intersection_of: MONDO:0016649 ! Warburg micro syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16133 ! TBC1D20
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615663"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16133 {source="MONDO:mim2gene_medgen"} ! TBC1D20

[Term]
id: MONDO:0014297
name: Joubert syndrome 22
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15999", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS22" EXACT ABBREVIATION [DOID:0110991, MONDO:Lexical, OMIM:615665]
synonym: "Joubert syndrome 22" EXACT [MONDO:Lexical, OMIM:615665]
synonym: "Joubert syndrome caused by mutation in PDE6D" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 22" EXACT [DOID:0110991, MONDORULE:2, OMIM:615665]
synonym: "PDE6D Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110991 {source="MONDO:equivalentTo"}
xref: GARD:15999 {source="MONDO:GARD"}
xref: MEDGEN:816608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615665 {source="MONDO:equivalentTo", source="DOID:0110991"}
xref: Orphanet:2754 {source="OMIM:615665"}
xref: UMLS:C3810278 {source="MONDO:equivalentTo", source="MEDGEN:816608", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DOID:0110991", source="MONDO:Redundant", source="OMIM:615665"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8788 ! PDE6D
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8788 {source="MONDO:mim2gene_medgen"} ! PDE6D

[Term]
id: MONDO:0014298
name: chromosome 5q12 deletion syndrome
def: "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin." [Orphanet:439822]
subset: gard_rare {source="GARD:17742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439822"}
subset: ordo_malformation_syndrome {source="Orphanet:439822"}
subset: orphanet_rare {source="Orphanet:439822"}
subset: rare
synonym: "chromosome 5q12 deletion syndrome" EXACT [OMIM:615668]
synonym: "PDE4D haploinsufficiency syndrome" RELATED [Orphanet:439822]
xref: DOID:0060421 {source="MONDO:equivalentTo"}
xref: GARD:17742 {source="MONDO:GARD"}
xref: MEDGEN:816612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615668 {source="Orphanet:439822", source="Orphanet:439822/nd", source="DOID:0060421", source="MONDO:equivalentTo"}
xref: Orphanet:439822 {source="MONDO:equivalentTo"}
xref: UMLS:C3810282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816612"}
is_a: MONDO:0000761 {source="DC-OMIM:615668", source="DOID:0060421"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0015159 {source="Orphanet:439822"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016904 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 5
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr5q12 ! 5q12 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:439822", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014299
name: schwannomatosis 2
subset: gard_rare {source="GARD:16000", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCHWANNOMATOSIS 2" RELATED [OMIM:615670]
synonym: "schwannomatosis 2" EXACT [MONDO:Lexical, OMIM:615670]
synonym: "Schwannomatosis type 2" EXACT [MONDORULE:1, OMIM:615670]
synonym: "schwannomatosis-2, susceptibility to" RELATED [OMIM:615670, OMIM:genemap2]
synonym: "SWNTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615670]
xref: DOID:0070481 {source="MONDO:equivalentTo"}
xref: GARD:16000 {source="MONDO:GARD"}
xref: MEDGEN:816613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615670 {source="MONDO:equivalentTo"}
xref: Orphanet:93921 {source="OMIM:615670"}
xref: UMLS:C3810283 {source="MEDGEN:816613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008075 {source="OMIM:615670", source="Orphanet:93921/btnt"} ! schwannomatosis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615670"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6742 {source="MONDO:mim2gene_medgen"} ! LZTR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014300
name: proximal myopathy with extrapyramidal signs
def: "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." [Orphanet:401768]
subset: gard_rare {source="GARD:12978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401768"}
subset: orphanet_rare {source="Orphanet:401768"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MPXPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615673]
synonym: "myopathy with extrapyramidal signs" RELATED [MONDO:Lexical, OMIM:615673]
xref: DOID:0111335 {source="MONDO:equivalentTo"}
xref: GARD:12978 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:401768", source="Orphanet:401768/attributed", source="Orphanet:401768/ntbt"}
xref: MEDGEN:816615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615673 {source="MONDO:equivalentTo", source="Orphanet:401768", source="Orphanet:401768/e"}
xref: Orphanet:401768 {source="MONDO:equivalentTo", source="OMIM:615673"}
xref: UMLS:C3810285 {source="MEDGEN:816615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
is_a: MONDO:0005395 ! movement disorder
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1530 {source="MONDO:mim2gene_medgen"} ! MICU1

[Term]
id: MONDO:0014301
name: dowling-degos disease 3
subset: gard_rare {source="GARD:16001", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DDD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615674]
synonym: "Dowling-Degos disease 3" RELATED [MONDO:Lexical, OMIM:615674]
xref: GARD:16001 {source="MONDO:GARD"}
xref: MEDGEN:816616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615674 {source="MONDO:equivalentTo"}
xref: Orphanet:79145 {source="OMIM:615674"}
xref: UMLS:C3810286 {source="MEDGEN:816616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:615674"} ! reticulate pigment disorder
is_a: MONDO:0008371 {source="Orphanet:79145/btnt"} ! Dowling-Degos disease

[Term]
id: MONDO:0014302
name: hereditary spastic paraplegia 62
def: "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." [Orphanet:401785]
subset: gard_rare {source="GARD:17657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401785"}
subset: orphanet_rare {source="Orphanet:401785"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 62" EXACT [DOID:0110813]
synonym: "autosomal recessive spastic paraplegia type 62" EXACT [DOID:0110813]
synonym: "ERLIN1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 62" EXACT [DOID:0110813, MONDORULE:2]
synonym: "spastic paraplegia 62, autosomal recessive" EXACT [OMIM:615681]
synonym: "SPG62" EXACT ABBREVIATION [DOID:0110813, OMIM:615681, Orphanet:401785]
xref: DOID:0110813 {source="MONDO:equivalentTo"}
xref: GARD:17657 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401785", source="DOID:0110813", source="Orphanet:401785/attributed", source="Orphanet:401785/ntbt"}
xref: MEDGEN:924879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615681 {source="Orphanet:401785", source="DOID:0110813", source="MONDO:equivalentTo", source="Orphanet:401785/e"}
xref: Orphanet:401785 {source="DOID:0110813", source="MONDO:equivalentTo"}
xref: SCTID:765045003 {source="MONDO:equivalentTo"}
xref: UMLS:C4284588 {source="MEDGEN:924879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110813", source="MONDO:Redundant", source="OMIM:615681", source="Orphanet:401785/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16947 {source="MONDO:mim2gene_medgen"} ! ERLIN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0014303
name: hereditary spastic paraplegia 64
def: "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." [Orphanet:401810]
subset: gard_rare {source="GARD:17659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401810"}
subset: orphanet_rare {source="Orphanet:401810"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 64" EXACT [DOID:0110815]
synonym: "autosomal recessive spastic paraplegia type 64" EXACT [DOID:0110815]
synonym: "ENTPD1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 64" EXACT [DOID:0110815, MONDORULE:2]
synonym: "spastic paraplegia 64, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615683]
synonym: "SPG64" EXACT ABBREVIATION [DOID:0110815, MONDO:Lexical, OMIM:615683, Orphanet:401810]
xref: DOID:0110815 {source="MONDO:equivalentTo"}
xref: GARD:17659 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401810/attributed", source="Orphanet:401810/ntbt", source="Orphanet:401810", source="DOID:0110815"}
xref: MEDGEN:816619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615683 {source="Orphanet:401810", source="DOID:0110815", source="MONDO:equivalentTo", source="Orphanet:401810/e"}
xref: Orphanet:401810 {source="DOID:0110815", source="MONDO:equivalentTo", source="OMIM:615683"}
xref: SCTID:726609005 {source="MONDO:equivalentTo"}
xref: UMLS:C3810289 {source="MONDO:equivalentTo", source="MEDGEN:816619", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110815", source="MONDO:Redundant", source="OMIM:615683", source="Orphanet:401810/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3363 {source="MONDO:mim2gene_medgen"} ! ENTPD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014304
name: hereditary spastic paraplegia 61
def: "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." [Orphanet:401780]
subset: gard_rare {source="GARD:17656", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401780"}
subset: orphanet_rare {source="Orphanet:401780"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARL6IP1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 61" EXACT [DOID:0110812]
synonym: "autosomal recessive spastic paraplegia type 61" EXACT [DOID:0110812]
synonym: "hereditary spastic paraplegia 61" EXACT CLINGEN_LABEL []
synonym: "hereditary spastic paraplegia type 61" EXACT [DOID:0110812, MONDORULE:2]
synonym: "spastic paraplegia 61, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615685]
synonym: "SPG61" EXACT ABBREVIATION [DOID:0110812, MONDO:Lexical, OMIM:615685, Orphanet:401780]
xref: DOID:0110812 {source="MONDO:equivalentTo"}
xref: GARD:17656 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110812", source="Orphanet:401780/attributed", source="Orphanet:401780/ntbt", source="Orphanet:401780"}
xref: MEDGEN:816624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615685 {source="Orphanet:401780/e", source="DOID:0110812", source="MONDO:equivalentTo", source="Orphanet:401780"}
xref: Orphanet:401780 {source="OMIM:615685", source="DOID:0110812", source="MONDO:equivalentTo"}
xref: SCTID:726611001 {source="MONDO:equivalentTo"}
xref: UMLS:C3810294 {source="MEDGEN:816624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110812", source="MONDO:Redundant", source="OMIM:615685", source="Orphanet:401780/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/697 {source="MONDO:mim2gene_medgen"} ! ARL6IP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014305
name: hereditary spastic paraplegia 63
def: "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2." [Orphanet:401805]
subset: gard_rare {source="GARD:17658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401805"}
subset: orphanet_rare {source="Orphanet:401805"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMPD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 63" EXACT [DOID:0110814]
synonym: "autosomal recessive spastic paraplegia type 63" RELATED [Orphanet:401805]
synonym: "hereditary spastic paraplegia type 63" EXACT [DOID:0110814, MONDORULE:2]
synonym: "spastic paraplegia 63" EXACT [DOID:0110814]
synonym: "spastic paraplegia 63, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615686]
synonym: "SPG63" EXACT ABBREVIATION [DOID:0110814, MONDO:Lexical, OMIM:615686, Orphanet:401805]
xref: DOID:0110814 {source="MONDO:equivalentTo"}
xref: GARD:17658 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110814", source="Orphanet:401805/attributed", source="Orphanet:401805/ntbt", source="Orphanet:401805"}
xref: MEDGEN:816625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615686 {source="Orphanet:401805/e", source="MONDO:equivalentTo", source="DOID:0110814", source="Orphanet:401805"}
xref: Orphanet:401805 {source="OMIM:615686", source="MONDO:equivalentTo", source="DOID:0110814"}
xref: SCTID:726610000 {source="MONDO:equivalentTo"}
xref: UMLS:C3810295 {source="MEDGEN:816625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110814", source="MONDO:Redundant", source="OMIM:615686", source="Orphanet:401805/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/469 {source="MONDO:mim2gene_medgen"} ! AMPD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014306
name: vasculitis due to ADA2 deficiency
def: "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." [Orphanet:404553]
subset: gard_rare {source="GARD:12383", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404553"}
subset: orphanet_rare {source="Orphanet:404553"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADA2 deficiency" EXACT [OMIM:615688]
synonym: "adenosine deaminase 2 deficiency" EXACT [GARD:0012383]
synonym: "childhood-onset polyarteritis nodosa" EXACT [GARD:0012383]
synonym: "DADA2" EXACT ABBREVIATION [GARD:0012383]
synonym: "PAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615688]
synonym: "polyarteritis nodosa, childhood-onset" EXACT [MONDO:Lexical, OMIM:615688]
synonym: "vasculitis due to DADA2" EXACT [Orphanet:404553]
synonym: "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" EXACT [OMIM:615688, OMIM:genemap2]
xref: GARD:12383 {source="MONDO:GARD"}
xref: ICD10CM:M30.8 {source="Orphanet:404553/attributed", source="Orphanet:404553/ntbt", source="Orphanet:404553"}
xref: MEDGEN:854497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200995 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200441 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200450 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615688 {source="Orphanet:404553/e", source="MONDO:equivalentTo", source="Orphanet:404553"}
xref: Orphanet:404553 {source="OMIM:615688", source="MONDO:equivalentTo"}
xref: UMLS:C3887654 {source="MEDGEN:854497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:404553"} ! vascular disorder
is_a: MONDO:0018882 {source="https://orcid.org/0000-0001-5208-3432"} ! vasculitis
is_a: MONDO:0021166 {source="https://orcid.org/0000-0003-4830-7530"} ! inflammatory disease
is_a: MONDO:0100317 {source="https://clinicalgenome.org/affiliation/40080/"} ! deficiency of adenosine deaminase 2
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1839 {source="MONDO:mim2gene_medgen"} ! ADA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6166" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014307
name: Dowling-Degos disease 4
def: "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16002", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DDD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615696]
synonym: "Dowling-Degos disease 4" EXACT [MONDO:Lexical, OMIM:615696]
synonym: "Dowling-Degos disease caused by mutation in POGLUT1" EXACT [MONDO:design_pattern]
synonym: "Dowling-Degos disease type 4" EXACT [MONDORULE:1, OMIM:615696]
synonym: "POGLUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16002 {source="MONDO:GARD"}
xref: MEDGEN:816643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615696 {source="MONDO:equivalentTo"}
xref: Orphanet:79145 {source="OMIM:615696"}
xref: UMLS:C3810313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816643"}
is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:615696"} ! reticulate pigment disorder
is_a: MONDO:0008371 {source="MONDO:Redundant", source="Orphanet:79145/btnt"} ! Dowling-Degos disease
intersection_of: MONDO:0008371 ! Dowling-Degos disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22954 ! POGLUT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22954 {source="MONDO:mim2gene_medgen"} ! POGLUT1

[Term]
id: MONDO:0014308
name: familial temporal lobe epilepsy 6
def: "A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26." [DOID:0060749, PMID:24021842]
comment: Editor note: TODO
subset: gard_rare {source="GARD:18281", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, familial temporal lobe, 6" RELATED [MONDO:Lexical, OMIM:615697]
synonym: "ETL6" EXACT ABBREVIATION [DOID:0060749, MONDO:Lexical, OMIM:615697]
synonym: "familial temporal lobe epilepsy type 6" EXACT [DOID:0060749, MONDORULE:1]
xref: DOID:0060749 {source="MONDO:equivalentTo"}
xref: GARD:18281 {source="MONDO:GARD"}
xref: MEDGEN:816650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615697 {source="MONDO:equivalentTo", source="DOID:0060749"}
xref: Orphanet:163717 {source="OMIM:615697", source="DOID:0060749"}
xref: UMLS:C3810320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816650"}
is_a: MONDO:0005115 {source="OMIM:615697"} ! temporal lobe epilepsy

[Term]
id: MONDO:0014309
name: obesity due to CEP19 deficiency
subset: gard_rare {source="GARD:17631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:397615"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "morbid obesity and spermatogenic failure" RELATED [MONDO:Lexical, OMIM:615703]
synonym: "MOSPGF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615703]
xref: GARD:17631 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:397615", source="Orphanet:397615/attributed", source="Orphanet:397615/ntbt"}
xref: MEDGEN:816654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615703 {source="Orphanet:397615/e", source="MONDO:equivalentTo", source="Orphanet:397615"}
xref: Orphanet:397615 {source="MONDO:equivalentTo", source="OMIM:615703"}
xref: UMLS:C3810324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816654"}
is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28209 {source="MONDO:mim2gene_medgen"} ! CEP19

[Term]
id: MONDO:0014310
name: hereditary sclerosing poikiloderma with tendon and pulmonary involvement
def: "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." [Orphanet:221043]
subset: gard_rare {source="GARD:13218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221043"}
subset: orphanet_rare {source="Orphanet:221043"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [GARD:0013218]
synonym: "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome" RELATED [Orphanet:221043]
synonym: "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [MONDO:Lexical, OMIM:615704]
synonym: "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" RELATED [OMIM:615704]
synonym: "POIKTMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615704]
synonym: "POIKTMP syndrome" EXACT [Orphanet:221043]
xref: GARD:13218 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:221043", source="Orphanet:221043/attributed", source="Orphanet:221043/ntbt"}
xref: MEDGEN:816655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615704 {source="Orphanet:221043", source="MONDO:equivalentTo", source="Orphanet:221043/e"}
xref: Orphanet:221043 {source="MONDO:equivalentTo", source="OMIM:615704"}
xref: UMLS:C3810325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816655"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:221043", source="Orphanet:221043/inferred"} ! respiratory system disorder
is_a: MONDO:0016382 {source="Orphanet:221043"} ! hereditary poikiloderma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24200 {source="MONDO:mim2gene_medgen"} ! FAM111B

[Term]
id: MONDO:0014311
name: autosomal recessive spinocerebellar ataxia 15
def: "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404499"}
subset: orphanet_rare {source="Orphanet:404499"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN" EXACT []
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency" RELATED [Orphanet:404499]
synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency" RELATED [Orphanet:404499]
synonym: "autosomal recessive spinocerebellar ataxia type 15" EXACT [DOID:0080057, MONDORULE:2, Orphanet:404499]
synonym: "RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Salih ataxia" RELATED [OMIM:615705]
synonym: "SCAR15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615705, Orphanet:404499]
synonym: "spinocerebellar ataxia, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:615705]
synonym: "spinocerebellar ataxia, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:615705]
xref: DOID:0080057 {source="MONDO:equivalentTo"}
xref: GARD:17678 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:404499/attributed", source="Orphanet:404499/ntbt", source="Orphanet:404499"}
xref: MEDGEN:816656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615705 {source="DOID:0080057", source="Orphanet:404499/e", source="MONDO:equivalentTo", source="Orphanet:404499"}
xref: Orphanet:404499 {source="MONDO:equivalentTo", source="OMIM:615705"}
xref: UMLS:C3810326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816656"}
is_a: MONDO:0018446 {source="MONDO:Redundant", source="Orphanet:404499"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
intersection_of: MONDO:0018446 ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28991 ! RUBCN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28991 {source="MONDO:mim2gene_medgen"} ! RUBCN

[Term]
id: MONDO:0014312
name: auriculocondylar syndrome 3
subset: gard_rare {source="GARD:16003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCND3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615706]
synonym: "AURICULOCONDYLAR syndrome 3" RELATED [OMIM:615706]
synonym: "Auriculocondylar syndrome 3" EXACT [MONDO:Lexical, OMIM:615706]
synonym: "Auriculocondylar syndrome type 3" EXACT [MONDORULE:1, OMIM:615706]
xref: GARD:16003 {source="MONDO:GARD"}
xref: MEDGEN:816662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615706 {source="MONDO:equivalentTo"}
xref: Orphanet:137888 {source="OMIM:615706"}
xref: UMLS:C3810332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816662"}
is_a: MONDO:0000107 {source="DC-OMIM:615706", source="OMIM:615706"} ! auriculocondylar syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3176 {source="MONDO:mim2gene_medgen"} ! EDN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014313
name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
subset: gard_rare {source="GARD:17732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:437552"}
subset: orphanet_rare {source="Orphanet:437552"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [Orphanet:437552]
synonym: "CD16 deficiency" EXACT [Orphanet:437552]
synonym: "IMD20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615707]
synonym: "immunodeficiency 20" RELATED [MONDO:Lexical, OMIM:615707]
synonym: "immunodeficiency type 20" EXACT [MONDORULE:2, OMIM:615707]
xref: DOID:0111941 {source="MONDO:equivalentTo"}
xref: GARD:17732 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:437552/attributed", source="Orphanet:437552/ntbt", source="Orphanet:437552"}
xref: MEDGEN:816672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615707 {source="Orphanet:437552/e", source="MONDO:equivalentTo", source="Orphanet:437552"}
xref: Orphanet:437552 {source="MONDO:equivalentTo"}
xref: UMLS:C3810342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816672"}
is_a: MONDO:0003778 {source="PMID:23006327"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3619 {source="MONDO:mim2gene_medgen"} ! FCGR3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014314
name: sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
subset: gard_rare {source="GARD:17642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397927"}
subset: ordo_malformation_syndrome {source="Orphanet:397927"}
subset: orphanet_rare {source="Orphanet:397927"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sacral agenesis with vertebral anomalies" RELATED [MONDO:Lexical, OMIM:615709]
synonym: "SAVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615709]
xref: GARD:17642 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:397927/attributed", source="Orphanet:397927/ntbt", source="Orphanet:397927"}
xref: MEDGEN:816673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615709 {source="Orphanet:397927/e", source="MONDO:equivalentTo", source="Orphanet:397927"}
xref: Orphanet:397927 {source="MONDO:equivalentTo", source="OMIM:615709"}
xref: UMLS:C3810343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816673"}
is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11515 {source="MONDO:mim2gene_medgen"} ! TBXT

[Term]
id: MONDO:0014315
name: obsolete Mitchell-Riley syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3099" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017400

[Term]
id: MONDO:0014316
name: Alzheimer disease 19
def: "Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AD19" EXACT ABBREVIATION [DOID:0110051, MONDO:Lexical, OMIM:615711]
synonym: "Alzheimer disease 19" EXACT [DOID:0110051, MONDO:Lexical, OMIM:615711]
synonym: "Alzheimer disease 19 late onset" EXACT [DOID:0110051]
synonym: "Alzheimer disease 19, late-onset" RELATED [OMIM:615711]
synonym: "Alzheimer disease caused by mutation in PLD3" EXACT [MONDO:design_pattern]
synonym: "Alzheimer disease type 19" EXACT [MONDORULE:2, OMIM:615711]
synonym: "Alzheimer's disease 19" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Alzheimer's disease type 19" EXACT [DOID:0110051, MONDORULE:2]
synonym: "PLD3 Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110051 {source="MONDO:equivalentTo"}
xref: MEDGEN:816679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615711 {source="DOID:0110051", source="MONDO:equivalentTo"}
xref: UMLS:C3810349 {source="MEDGEN:816679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004975 {source="DC-OMIM:615711", source="DOID:0110051", source="MONDO:Redundant"} ! Alzheimer disease
intersection_of: MONDO:0004975 ! Alzheimer disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17158 ! PLD3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17158 {source="MONDO:mim2gene_medgen"} ! PLD3

[Term]
id: MONDO:0014317
name: pancytopenia-developmental delay syndrome
subset: gard_rare {source="GARD:17655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401764"}
subset: orphanet_rare {source="Orphanet:401764"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BMFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615715]
synonym: "bone marrow failure syndrome 2" RELATED [MONDO:Lexical, OMIM:615715]
synonym: "bone marrow failure syndrome type 2" EXACT [MONDORULE:1, OMIM:615715]
synonym: "pancytopenia-developmental delay syndrome" EXACT CLINGEN_LABEL []
synonym: "Trilineage bone marrow failure-developmental delay syndrome" EXACT [Orphanet:401764]
xref: GARD:17655 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:401764/attributed", source="Orphanet:401764/ntbt", source="Orphanet:401764"}
xref: MEDGEN:816680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615715 {source="Orphanet:401764", source="MONDO:equivalentTo", source="Orphanet:401764/e"}
xref: Orphanet:401764 {source="MONDO:equivalentTo", source="OMIM:615715"}
xref: UMLS:C3810350 {source="MONDO:equivalentTo", source="MEDGEN:816680", source="MONDO:MEDGEN"}
is_a: MONDO:0000159 {source="DC-OMIM:615715", source="OMIM:615715"} ! bone marrow failure syndrome
is_a: MONDO:0001713 {source="Orphanet:401764"} ! inherited aplastic anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26922 {source="MONDO:mim2gene_medgen"} ! ERCC6L2

[Term]
id: MONDO:0014318
name: hyperphosphatasia with intellectual disability syndrome 4
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18352", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glycosylphosphatidylinositol biosynthesis defect 10" RELATED [OMIM:615716]
synonym: "HPMRS4" RELATED DEPRECATED [MONDO:Lexical, OMIM:615716]
synonym: "hyperphosphatasia with intellectual disability syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615716]
synonym: "hyperphosphatasia with intellectual disability syndrome type 4" EXACT [MONDORULE:1, OMIM:615716]
synonym: "hyperphosphatasia with mental retardation syndrome 4" EXACT DEPRECATED [MONDO:Lexical, OMIM:615716]
synonym: "hyperphosphatasia with mental retardation syndrome type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:615716]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3" EXACT [MONDO:design_pattern]
synonym: "PGAP3 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070436 {source="MONDO:equivalentTo"}
xref: GARD:18352 {source="MONDO:GARD"}
xref: MEDGEN:816684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615716 {source="MONDO:equivalentTo"}
xref: Orphanet:247262 {source="OMIM:615716"}
xref: UMLS:C3810354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816684"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:615716", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23719 ! PGAP3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23719 {source="MONDO:mim2gene_medgen"} ! PGAP3

[Term]
id: MONDO:0014319
name: renal hypodysplasia/aplasia 2
def: "Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FGF20 renal agenesis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "renal agenesis (disease) caused by mutation in FGF20" EXACT []
synonym: "renal hypodysplasia/aplasia 2" EXACT [MONDO:Lexical, OMIM:615721]
synonym: "renal hypodysplasia/aplasia type 2" EXACT [MONDORULE:1, OMIM:615721]
synonym: "RHDA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615721]
xref: MEDGEN:816689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615721 {source="MONDO:equivalentTo"}
xref: Orphanet:411709 {source="OMIM:615721"}
xref: UMLS:C3810359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816689"}
is_a: MONDO:0018470 {source="MONDO:Redundant", source="OMIM:615721", source="Orphanet:411709/btnt"} ! renal agenesis
intersection_of: MONDO:0018470 ! renal agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3677 ! FGF20
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3677 {source="MONDO:mim2gene_medgen"} ! FGF20

[Term]
id: MONDO:0014320
name: Bosch-Boonstra-Schaaf optic atrophy syndrome
def: "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." [Orphanet:401777]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401777"}
subset: orphanet_rare {source="Orphanet:401777"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BBSOAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615722]
synonym: "Bosch-Boonstra-Schaaf optic atrophy syndrome" EXACT CLINGEN_LABEL []
synonym: "optic atrophy-intellectual disability syndrome" EXACT [Orphanet:401777]
xref: DOID:0112226 {source="MONDO:equivalentTo"}
xref: GARD:12903 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:401777/attributed", source="Orphanet:401777/ntbt", source="MONDO:relatedTo", source="Orphanet:401777"}
xref: MEDGEN:816693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615722 {source="Orphanet:401777", source="MONDO:equivalentTo", source="Orphanet:401777/e"}
xref: Orphanet:401777 {source="OMIM:615722", source="MONDO:equivalentTo"}
xref: UMLS:C3810363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816693"}
is_a: MONDO:0000508 {source="Orphanet:401777", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7975 {source="MONDO:mim2gene_medgen"} ! NR2F1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4452" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014321
name: premature ovarian failure 8
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615723]
synonym: "premature ovarian failure 8" EXACT [MONDO:Lexical, OMIM:615723]
synonym: "premature ovarian failure type 8" EXACT [MONDORULE:1, OMIM:615723]
synonym: "primary ovarian failure caused by mutation in STAG3" EXACT [MONDO:design_pattern]
synonym: "STAG3 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080865 {source="MONDO:equivalentTo"}
xref: MEDGEN:816697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615723 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:615723"}
xref: UMLS:C3810367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816697"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:615723", source="OMIM:615723"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11356 ! STAG3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11356 {source="MONDO:mim2gene_medgen"} ! STAG3

[Term]
id: MONDO:0014322
name: premature ovarian failure 9
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HFM1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Pof9" RELATED [MONDO:Lexical, OMIM:615724]
synonym: "premature ovarian failure 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615724]
synonym: "premature ovarian failure type 9" EXACT [MONDORULE:1, OMIM:615724]
synonym: "primary ovarian failure caused by mutation in HFM1" EXACT [MONDO:design_pattern]
xref: DOID:0080866 {source="MONDO:equivalentTo"}
xref: MEDGEN:816706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615724 {source="MONDO:equivalentTo"}
xref: Orphanet:619 {source="OMIM:615724"}
xref: UMLS:C3810376 {source="MEDGEN:816706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:615724", source="OMIM:615724"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20193 ! HFM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20193 {source="MONDO:mim2gene_medgen"} ! HFM1

[Term]
id: MONDO:0014323
name: retinitis pigmentosa 68
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 68" EXACT [MONDO:Lexical, OMIM:615725]
synonym: "retinitis pigmentosa caused by mutation in SLC7A14" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 68" EXACT [DOID:0110374, MONDORULE:2, OMIM:615725]
synonym: "RP68" EXACT ABBREVIATION [DOID:0110374, MONDO:Lexical, OMIM:615725]
synonym: "SLC7A14 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110374 {source="MONDO:equivalentTo"}
xref: GARD:16004 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110374"}
xref: MEDGEN:816710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615725 {source="MONDO:equivalentTo", source="DOID:0110374"}
xref: UMLS:C3810380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816710"}
is_a: MONDO:0019200 {source="DC-OMIM:615725", source="DOID:0110374", source="MONDO:Redundant", source="OMIM:615725"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29326 ! SLC7A14
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29326 {source="MONDO:mim2gene_medgen"} ! SLC7A14

[Term]
id: MONDO:0014324
name: pachyonychia congenita 3
def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KRT6A pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pachyonychia congenita 3" EXACT [MONDO:Lexical, OMIM:615726]
synonym: "pachyonychia congenita caused by mutation in KRT6A" EXACT [MONDO:design_pattern]
synonym: "pachyonychia congenita type 3" EXACT [MONDORULE:1, OMIM:615726]
synonym: "PC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615726]
xref: GARD:16005 {source="MONDO:GARD"}
xref: MEDGEN:811523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615726 {source="MONDO:equivalentTo"}
xref: Orphanet:2309 {source="OMIM:615726"}
xref: UMLS:C3714948 {source="MEDGEN:811523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016471 {source="DC-OMIM:615726", source="MONDO:Redundant", source="OMIM:615726"} ! pachyonychia congenita
intersection_of: MONDO:0016471 ! pachyonychia congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6443 ! KRT6A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6443 {source="MONDO:mim2gene_medgen"} ! KRT6A

[Term]
id: MONDO:0014325
name: pachyonychia congenita 4
def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16006", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KRT6B pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "pachyonychia congenita 4" EXACT [MONDO:Lexical, OMIM:615728]
synonym: "pachyonychia congenita caused by mutation in KRT6B" EXACT [MONDO:design_pattern]
synonym: "pachyonychia congenita type 4" EXACT [MONDORULE:1, OMIM:615728]
synonym: "PC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615728]
xref: GARD:16006 {source="MONDO:GARD"}
xref: MEDGEN:811524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615728 {source="MONDO:equivalentTo"}
xref: Orphanet:2309 {source="OMIM:615728"}
xref: UMLS:C3714949 {source="MEDGEN:811524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016471 {source="DC-OMIM:615728", source="MONDO:Redundant", source="OMIM:615728"} ! pachyonychia congenita
intersection_of: MONDO:0016471 ! pachyonychia congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6444 ! KRT6B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6444 {source="MONDO:mim2gene_medgen"} ! KRT6B

[Term]
id: MONDO:0014326
name: nemaline myopathy 9
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16007", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KLHL41 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM9" EXACT ABBREVIATION [DOID:0110929, MONDO:Lexical, OMIM:615731]
synonym: "nemaline myopathy 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615731]
synonym: "nemaline myopathy caused by mutation in KLHL41" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 9" EXACT [DOID:0110929, MONDORULE:1, OMIM:615731]
xref: DOID:0110929 {source="MONDO:equivalentTo"}
xref: GARD:16007 {source="MONDO:GARD"}
xref: MEDGEN:816714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615731 {source="MONDO:equivalentTo", source="DOID:0110929"}
xref: Orphanet:607 {source="OMIM:615731"}
xref: UMLS:C3810384 {source="MEDGEN:816714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0015736 {source="Orphanet:171433/btnt"} ! intermediate nemaline myopathy
is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0015738 {source="Orphanet:171439/btnt"} ! childhood-onset nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110929", source="MONDO:Redundant", source="OMIM:615731"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16905 ! KLHL41
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16905 {source="MONDO:mim2gene_medgen"} ! KLHL41

[Term]
id: MONDO:0014327
name: palmoplantar keratoderma, nonepidermolytic, focal or diffuse
subset: gard_rare {source="GARD:17669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402003"}
subset: orphanet_rare {source="Orphanet:402003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [Orphanet:402003]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" EXACT [MONDO:Lexical, OMIM:615735]
synonym: "PPKNEFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615735]
xref: DOID:0111710 {source="MONDO:equivalentTo"}
xref: GARD:17669 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:402003/attributed", source="Orphanet:402003/ntbt", source="Orphanet:402003"}
xref: MEDGEN:816724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615735 {source="Orphanet:402003/e", source="MONDO:equivalentTo", source="Orphanet:402003"}
xref: Orphanet:402003 {source="MONDO:equivalentTo", source="OMIM:615735"}
xref: UMLS:C3810394 {source="MEDGEN:816724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019272 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-5493-2602"} ! hereditary palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:615735", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nonepidermolytic palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0017673 {source="Orphanet:402003", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete isolated focal palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20406 {source="MONDO:mim2gene_medgen"} ! KRT6C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3108" xsd:anyURI

[Term]
id: MONDO:0014328
name: developmental and epileptic encephalopathy, 19
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16008", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE19" EXACT ABBREVIATION [OMIM:615744]
synonym: "developmental and epileptic encephalopathy 19" EXACT [OMIM:615744, OMIM:genemap2]
synonym: "Early Infantile epileptic encephalopathy 19" EXACT [NCIT:C142802]
synonym: "early infantile epileptic encephalopathy caused by mutation in GABRA1" EXACT [MONDO:design_pattern]
synonym: "EIEE19" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615744]
synonym: "epileptic encephalopathy, early infantile, 19" EXACT [MONDO:Lexical, OMIM:615744]
synonym: "epileptic encephalopathy, early infantile, type 19" EXACT [MONDORULE:2, OMIM:615744]
synonym: "GABRA1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080431 {source="MONDO:equivalentTo"}
xref: GARD:16008 {source="MONDO:GARD"}
xref: MEDGEN:816730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C142802 {source="MONDO:equivalentTo"}
xref: OMIM:615744 {source="MONDO:equivalentTo"}
xref: Orphanet:33069 {source="OMIM:615744"}
xref: UMLS:C3810400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816730"}
is_a: MONDO:0100062 {source="MONDO:Redundant", source="NCIT:C142802", source="OMIM:615744"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4075 ! GABRA1
relationship: excluded_subClassOf MONDO:0100135 {source="Orphanet:33069/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Dravet syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4075 {source="MONDO:mim2gene_medgen"} ! GABRA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014329
name: atrial standstill 2
def: "Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18612", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "atrial dilation and standstill" RELATED [OMIM:615745]
synonym: "atrial standstill 2" EXACT [MONDO:Lexical, OMIM:615745]
synonym: "atrial standstill caused by mutation in NPPA" EXACT [MONDO:design_pattern]
synonym: "atrial standstill type 2" EXACT [MONDORULE:1, OMIM:615745]
synonym: "ATRST2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615745]
synonym: "cardiomyopathy, atrial dilated, with atrial standstill" RELATED [OMIM:615745]
synonym: "NPPA atrial standstill" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080663 {source="MONDO:equivalentTo"}
xref: GARD:18612 {source="MONDO:GARD"}
xref: MEDGEN:816731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615745 {source="MONDO:equivalentTo"}
xref: Orphanet:1344 {source="OMIM:615745"}
xref: UMLS:C3810401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816731"}
is_a: MONDO:0015281 {source="DC-OMIM:615745", source="MONDO:Redundant"} ! atrial standstill
intersection_of: MONDO:0015281 ! atrial standstill
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7939 ! NPPA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7939 {source="MONDO:mim2gene_medgen"} ! NPPA

[Term]
id: MONDO:0014330
name: obsolete eculizumab, poor response to
synonym: "eculizumab, poor response to" EXACT [OMIM:615749, OMIM:genemap2]
xref: OMIM:615749 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0014331
name: Moyamoya disease with early-onset achalasia
def: "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." [Orphanet:401945]
subset: gard_rare {source="GARD:17664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401945"}
subset: orphanet_rare {source="Orphanet:401945"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "moyamoya 6 with achalasia" EXACT [OMIM:615750, OMIM:genemap2]
synonym: "Moyamoya disease 6 with achalasia" RELATED [MONDO:Lexical, OMIM:615750]
synonym: "MYMY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615750]
xref: GARD:17664 {source="MONDO:GARD"}
xref: ICD10CM:I67.5 {source="Orphanet:401945", source="Orphanet:401945/attributed", source="Orphanet:401945/ntbt"}
xref: MEDGEN:816733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615750 {source="MONDO:equivalentTo", source="Orphanet:401945", source="Orphanet:401945/e"}
xref: Orphanet:401945 {source="MONDO:equivalentTo", source="OMIM:615750"}
xref: SCTID:718551002 {source="MONDO:equivalentTo"}
xref: UMLS:C3810403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816733"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0016820 {source="DC-OMIM:615750", source="OMIM:615750"} ! Moyamoya disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4685 {source="MONDO:mim2gene_medgen"} ! GUCY1A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0014332
name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401948"}
subset: orphanet_rare {source="Orphanet:401948"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CA-VA deficiency" EXACT [Orphanet:401948]
synonym: "CA5AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615751]
synonym: "carbonic anhydrase 5A deficiency, hyperammonemia due to" RELATED [OMIM:615751]
synonym: "carbonic anhydrase VA deficiency" RELATED [GARD:0013201]
synonym: "carbonic anhydrase VA deficiency, hyperammonemia due to" RELATED [MONDO:Lexical, OMIM:615751]
synonym: "hyperammonemia due to carbonic anhydrase VA deficiency" RELATED [GARD:0013201]
synonym: "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" EXACT CLINGEN_LABEL []
synonym: "mitochondrial carbonic anhydrase va deficiency" RELATED [GARD:0013201]
xref: GARD:13201 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:401948/attributed", source="Orphanet:401948/ntbt", source="Orphanet:401948"}
xref: MEDGEN:816734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615751 {source="Orphanet:401948/e", source="MONDO:equivalentTo", source="Orphanet:401948"}
xref: Orphanet:401948 {source="OMIM:615751", source="MONDO:equivalentTo"}
xref: SCTID:764456001 {source="MONDO:equivalentTo"}
xref: UMLS:C3810404 {source="MEDGEN:816734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004739 {source="Orphanet:401948"} ! urea cycle disorder
is_a: MONDO:0019225 {source="Orphanet:401948"} ! disorder of gluconeogenesis
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1377 {source="MONDO:mim2gene_medgen"} ! CA5A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0014333
name: polymicrogyria, bilateral perisylvian, autosomal recessive
subset: gard_rare {source="GARD:16009", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BPPR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615752]
synonym: "Pmgr" RELATED [OMIM:615752]
synonym: "polymicrogyria, bilateral perisylvian" EXACT [OMIM:615752, OMIM:genemap2]
synonym: "polymicrogyria, bilateral perisylvian, autosomal recessive" EXACT [MONDO:Lexical, OMIM:615752]
xref: GARD:16009 {source="MONDO:GARD"}
xref: MEDGEN:816735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615752 {source="MONDO:equivalentTo"}
xref: Orphanet:268940 {source="OMIM:615752"}
xref: Orphanet:98889 {source="OMIM:615752"}
xref: UMLS:C3810405 {source="MEDGEN:816735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020340 {source="Orphanet:98889/btnt"} ! bilateral perisylvian polymicrogyria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4512 {source="MONDO:mim2gene_medgen"} ! ADGRG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014334
name: severe combined immunodeficiency due to LCK deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17288", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280142"}
subset: orphanet_rare {source="Orphanet:280142"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615758]
synonym: "immunodeficiency 22" RELATED [MONDO:Lexical, OMIM:615758]
synonym: "immunodeficiency type 22" EXACT [MONDORULE:2, OMIM:615758]
synonym: "SCID due to LCK deficiency" EXACT [Orphanet:280142]
synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142]
synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142]
xref: DOID:0111937 {source="MONDO:equivalentTo"}
xref: GARD:17288 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="Orphanet:280142", source="Orphanet:280142/attributed", source="Orphanet:280142/ntbt"}
xref: MEDGEN:862670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615758 {source="MONDO:equivalentTo", source="Orphanet:280142", source="Orphanet:280142/e"}
xref: Orphanet:280142 {source="MONDO:equivalentTo", source="OMIM:615758"}
xref: UMLS:C4014233 {source="MEDGEN:862670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017855 {source="Orphanet:280142"} ! T-B- severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6524 {source="MONDO:mim2gene_medgen"} ! LCK

[Term]
id: MONDO:0014335
name: diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404437"}
subset: ordo_malformation_syndrome {source="Orphanet:404437"}
subset: orphanet_rare {source="Orphanet:404437"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" EXACT CLINGEN_LABEL []
synonym: "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" EXACT [OMIM:615760, OMIM:genemap2]
synonym: "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" RELATED [MONDO:Lexical, OMIM:615760]
synonym: "MSCCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615760]
xref: GARD:17672 {source="MONDO:GARD"}
xref: ICD10CM:G98 {source="Orphanet:404437/attributed", source="Orphanet:404437/ntbt", source="Orphanet:404437"}
xref: MEDGEN:862676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615760 {source="Orphanet:404437", source="MONDO:equivalentTo", source="Orphanet:404437/e"}
xref: Orphanet:404437 {source="MONDO:equivalentTo", source="OMIM:615760"}
xref: UMLS:C4014239 {source="MONDO:equivalentTo", source="MEDGEN:862676", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005559 {source="OMIM:615760", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9751 {source="MONDO:mim2gene_medgen"} ! QARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014336
name: intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
subset: gard_rare {source="GARD:17673", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404440"}
subset: ordo_malformation_syndrome {source="Orphanet:404440"}
subset: orphanet_rare {source="Orphanet:404440"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 23" EXACT [DOID:0070053]
synonym: "autosomal dominant mental retardation 23" EXACT DEPRECATED [DOID:0070053]
synonym: "autosomal dominant non-syndromic intellectual disability 23" RELATED [DOID:0070053]
synonym: "intellectual developmental disorder, autosomal dominant 23" EXACT [OMIM:615761, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 23" RELATED [MONDO:Lexical, OMIM:615761]
synonym: "intellectual disability, autosomal dominant type 23" EXACT [MONDORULE:2, OMIM:615761]
synonym: "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" EXACT CLINGEN_LABEL []
synonym: "mental retardation, autosomal dominant 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:615761]
synonym: "mental retardation, autosomal dominant type 23" EXACT DEPRECATED [MONDORULE:2, OMIM:615761]
synonym: "MRD23" EXACT ABBREVIATION [DOID:0070053, MONDO:Lexical, OMIM:615761]
xref: DOID:0070053 {source="MONDO:equivalentTo"}
xref: GARD:17673 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:404440/attributed", source="Orphanet:404440/ntbt", source="Orphanet:404440"}
xref: MEDGEN:816736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615761 {source="DOID:0070053", source="Orphanet:404440/e", source="MONDO:equivalentTo", source="Orphanet:404440"}
xref: Orphanet:404440 {source="MONDO:equivalentTo", source="OMIM:615761"}
xref: UMLS:C3810406 {source="MEDGEN:816736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:404440"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404440", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070053", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25566 {source="MONDO:mim2gene_medgen"} ! SETD5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014337
name: complex cortical dysplasia with other brain malformations 5
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM5" EXACT ABBREVIATION [DOID:0090135, MONDO:Lexical, OMIM:615763]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 5" EXACT [DOID:0090135, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 5" RELATED [MONDO:Lexical, OMIM:615763]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 5" EXACT [MONDORULE:1, OMIM:615763]
synonym: "TUBB2A complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090135 {source="MONDO:equivalentTo"}
xref: MEDGEN:816737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615763 {source="DOID:0090135", source="MONDO:equivalentTo"}
xref: UMLS:C3810407 {source="MEDGEN:816737", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000904 {source="DOID:0090135", source="MONDO:Redundant", source="OMIM:615763"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12412 ! TUBB2A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12412 {source="MONDO:mim2gene_medgen"} ! TUBB2A

[Term]
id: MONDO:0014338
name: IL21-related infantile inflammatory bowel disease
subset: gard_rare {source="GARD:17852", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477661"}
subset: orphanet_rare {source="Orphanet:477661"}
subset: rare
synonym: "CVID11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615767]
synonym: "IL21 deficiency" RELATED [OMIM:615767]
synonym: "IL21-related infantile IBD" EXACT [Orphanet:477661]
synonym: "immunodeficiency, common variable, 11" RELATED [MONDO:Lexical, OMIM:615767]
synonym: "immunodeficiency, common variable, type 11" EXACT [MONDORULE:2, OMIM:615767]
xref: DOID:0081153 {source="MONDO:equivalentTo"}
xref: GARD:17852 {source="MONDO:GARD"}
xref: MEDGEN:1799211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615767 {source="MONDO:equivalentTo", source="Orphanet:477661"}
xref: Orphanet:238569 {source="OMIM:615767"}
xref: Orphanet:477661 {source="MONDO:equivalentTo"}
xref: UMLS:C5567788 {source="MEDGEN:1799211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015517 {source="DC-OMIM:615767", source="OMIM:615767"} ! common variable immunodeficiency
relationship: excluded_subClassOf MONDO:0016542 {source="Orphanet:238569/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:477661", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6005 {source="MONDO:mim2gene_medgen"} ! IL21

[Term]
id: MONDO:0014339
name: autosomal recessive spinocerebellar ataxia 16
def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412057"}
subset: orphanet_rare {source="Orphanet:412057"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia caused by mutation in STUB1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive cerebellar ataxia due to STUB1 deficiency" RELATED [Orphanet:412057]
synonym: "autosomal recessive spinocerebellar ataxia 16" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive spinocerebellar ataxia type 16" EXACT [DOID:0080029, MONDORULE:2]
synonym: "SCAR16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615768, Orphanet:412057]
synonym: "spinocerebellar ataxia autosomal recessive type 16" EXACT [Orphanet:412057]
synonym: "spinocerebellar ataxia, autosomal recessive 16" RELATED [MONDO:Lexical, OMIM:615768]
synonym: "spinocerebellar ataxia, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:615768]
synonym: "STUB1 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080029 {source="MONDO:equivalentTo"}
xref: GARD:17689 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:412057/attributed", source="Orphanet:412057/ntbt", source="Orphanet:412057"}
xref: MEDGEN:1674542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615768 {source="Orphanet:412057/e", source="MONDO:equivalentTo", source="DOID:0080029", source="Orphanet:412057"}
xref: Orphanet:412057 {source="MONDO:equivalentTo", source="OMIM:615768"}
xref: UMLS:C5190574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674542"}
is_a: MONDO:0015244 {source="DOID:0080029", source="MONDO:Redundant", source="Orphanet:412057"} ! autosomal recessive cerebellar ataxia
intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11427 ! STUB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11427 {source="MONDO:mim2gene_medgen"} ! STUB1

[Term]
id: MONDO:0014340
name: atrial fibrillation, familial, 15
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16010", source="MONDO:GARD"}
subset: rare
synonym: "ATFB15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615770]
synonym: "atrial fibrillation 15" EXACT [OMIM:615770, OMIM:genemap2]
synonym: "atrial fibrillation, familial, 15" EXACT [MONDO:Lexical, OMIM:615770]
synonym: "atrial fibrillation, familial, type 15" EXACT [MONDORULE:2, OMIM:615770]
synonym: "familial atrial fibrillation caused by mutation in NUP155" EXACT [MONDO:design_pattern]
synonym: "NUP155 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16010 {source="MONDO:GARD"}
xref: MEDGEN:862706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615770 {source="MONDO:equivalentTo"}
xref: Orphanet:334 {source="OMIM:615770"}
xref: UMLS:C4014269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862706"}
is_a: MONDO:0018054 {source="DC-OMIM:615770", source="MONDO:Redundant", source="OMIM:615770"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8063 ! NUP155
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8063 {source="MONDO:mim2gene_medgen"} ! NUP155
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014341
name: complex cortical dysplasia with other brain malformations 6
def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene." [MONDO:patterns/disease_series_by_gene]
synonym: "CDCBM56" EXACT ABBREVIATION [DOID:0090136]
synonym: "CDCBM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615771]
synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB" EXACT [MONDO:design_pattern]
synonym: "complex cortical dysplasia with other brain malformations type 6" EXACT [DOID:0090136, MONDORULE:1]
synonym: "cortical dysplasia, complex, with other brain malformations 6" RELATED [MONDO:Lexical, OMIM:615771]
synonym: "cortical dysplasia, Complex, with Other brain malformations type 6" EXACT [MONDORULE:1, OMIM:615771]
synonym: "TUBB complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090136 {source="MONDO:equivalentTo"}
xref: MEDGEN:862720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615771 {source="MONDO:equivalentTo", source="DOID:0090136"}
xref: UMLS:C4014283 {source="MONDO:equivalentTo", source="MEDGEN:862720", source="MONDO:MEDGEN"}
is_a: MONDO:0000904 {source="DOID:0090136", source="MONDO:Redundant", source="OMIM:615771"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 ! TUBB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 {source="MONDO:mim2gene_medgen"} ! TUBB

[Term]
id: MONDO:0014342
name: female infertility due to zona pellucida defect
def: "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa." [Orphanet:404466]
subset: gard_rare {source="GARD:17675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404466"}
subset: orphanet_rare {source="Orphanet:404466"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "oocyte maturation defect" RELATED [MONDO:Lexical, OMIM:615774]
synonym: "oocyte maturation defect 1" RELATED [OMIM:615774]
synonym: "OOMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615774]
synonym: "OOMD1" RELATED ABBREVIATION [OMIM:615774]
xref: GARD:17675 {source="MONDO:GARD"}
xref: ICD10CM:N97.8 {source="Orphanet:404466/attributed", source="Orphanet:404466/ntbt", source="Orphanet:404466"}
xref: MEDGEN:862728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615774 {source="Orphanet:404466/e", source="MONDO:equivalentTo", source="Orphanet:404466"}
xref: Orphanet:404466 {source="OMIM:615774", source="MONDO:equivalentTo"}
xref: UMLS:C4014291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862728"}
is_a: MONDO:0014769 {source="OMIM:615774"} ! inherited oocyte maturation defect
is_a: MONDO:0021124 {source="Orphanet:404466"} ! female infertility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13187 {source="MONDO:mim2gene_medgen"} ! ZP1

[Term]
id: MONDO:0014343
name: Desbuquois dysplasia 2
def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16466", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Baratela-Scott syndrome" EXACT [MONDO:0010470, OMIM:300881]
synonym: "DBQD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615777]
synonym: "Desbuquois dysplasia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615777]
synonym: "Desbuquois dysplasia caused by mutation in XYLT1" EXACT [MONDO:design_pattern]
synonym: "Desbuquois dysplasia type 2" EXACT [MONDORULE:1, OMIM:615777]
synonym: "XYLT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16466 {source="MONDO:GARD"}
xref: MEDGEN:862731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615777 {source="MONDO:equivalentTo"}
xref: Orphanet:1425 {source="OMIM:615777"}
xref: UMLS:C4014294 {source="MONDO:equivalentTo", source="MEDGEN:862731", source="MONDO:MEDGEN"}
is_a: MONDO:0015426 {source="DC-OMIM:615777", source="MONDO:Redundant", source="OMIM:615777", source="Orphanet:1425/btnt"} ! Desbuquois dysplasia
intersection_of: MONDO:0015426 ! Desbuquois dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15516 ! XYLT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15516 {source="MONDO:mim2gene_medgen"} ! XYLT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014344
name: congenital heart defects, multiple types, 4
def: "Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHTD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615779]
synonym: "congenital heart defects, multiple types caused by mutation in NR2F2" EXACT [MONDO:design_pattern]
synonym: "congenital heart defects, multiple types, 4" EXACT [MONDO:Lexical, OMIM:615779]
synonym: "NR2F2 congenital heart defects, multiple types" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:862747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615779 {source="MONDO:equivalentTo"}
xref: Orphanet:98722 {source="OMIM:615779"}
xref: UMLS:C4014310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862747"}
is_a: MONDO:0000119 {source="DC-OMIM:615779", source="MONDO:Redundant"} ! congenital heart defects, multiple types
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0020290 {source="Orphanet:98722/btnt"} ! familial atrioventricular septal defect
intersection_of: MONDO:0000119 ! congenital heart defects, multiple types
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7976 ! NR2F2
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7976 {source="MONDO:mim2gene_medgen"} ! NR2F2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014345
name: retinitis pigmentosa 69
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KIZ retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 69" EXACT [MONDO:Lexical, OMIM:615780]
synonym: "retinitis pigmentosa caused by mutation in KIZ" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 69" EXACT [DOID:0110410, MONDORULE:2, OMIM:615780]
synonym: "RP69" EXACT ABBREVIATION [DOID:0110410, MONDO:Lexical, OMIM:615780]
xref: DOID:0110410 {source="MONDO:equivalentTo"}
xref: GARD:16011 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110410"}
xref: MEDGEN:862749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615780 {source="MONDO:equivalentTo", source="DOID:0110410"}
xref: UMLS:C4014312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862749"}
is_a: MONDO:0019200 {source="DC-OMIM:615780", source="DOID:0110410", source="MONDO:Redundant", source="OMIM:615780"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15865 ! KIZ
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15865 {source="MONDO:mim2gene_medgen"} ! KIZ

[Term]
id: MONDO:0014346
name: white sponge nevus 2
subset: gard_rare {source="GARD:16012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "WHITE sponge NEVUS 2" RELATED [OMIM:615785]
synonym: "white sponge nevus 2" EXACT [MONDO:Lexical, OMIM:615785]
synonym: "White sponge Nevus type 2" EXACT [MONDORULE:1, OMIM:615785]
synonym: "WSN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615785]
xref: DOID:0081288 {source="MONDO:equivalentTo"}
xref: GARD:16012 {source="MONDO:GARD"}
xref: MEDGEN:862758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615785 {source="MONDO:equivalentTo"}
xref: Orphanet:171723 {source="OMIM:615785"}
xref: UMLS:C4014321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862758"}
is_a: MONDO:0015748 {source="DC-OMIM:615785", source="OMIM:615785"} ! hereditary mucosal leukokeratosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6415 {source="MONDO:mim2gene_medgen"} ! KRT13

[Term]
id: MONDO:0014347
name: Rothmund-Thomson syndrome, type 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short stature with microcephaly and distinctive facies" EXACT CLINGEN_LABEL [OMIM:615789]
xref: MEDGEN:862776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615789 {source="MONDO:equivalentTo"}
xref: UMLS:C4014339 {source="MEDGEN:862776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0010002 {source="OMIM:615789", source="https://orcid.org/0000-0002-4142-7153"} ! Rothmund-Thomson syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14312 {source="MONDO:mim2gene_medgen"} ! CRIPT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014348
name: intellectual disability, autosomal recessive 42
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1" EXACT [MONDO:design_pattern]
synonym: "glycosylphosphatidylinositol biosynthesis defect 9" RELATED [OMIM:615802]
synonym: "intellectual disability, autosomal recessive 42" EXACT [MONDO:Lexical, OMIM:615802]
synonym: "intellectual disability, autosomal recessive type 42" EXACT [MONDORULE:2, OMIM:615802]
synonym: "mental retardation, autosomal recessive 42" RELATED DEPRECATED [MONDO:Lexical, OMIM:615802]
synonym: "mental retardation, autosomal recessive type 42" EXACT DEPRECATED [MONDORULE:2, OMIM:615802]
synonym: "MRT42" RELATED DEPRECATED [MONDO:Lexical, OMIM:615802]
synonym: "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" EXACT [OMIM:615802, OMIM:genemap2]
synonym: "PGAP1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:22564 {source="MONDO:GARD"}
xref: MEDGEN:862780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615802 {source="MONDO:equivalentTo"}
xref: UMLS:C4014343 {source="MEDGEN:862780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:615802", source="MONDO:Redundant", source="OMIM:615802"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25712 ! PGAP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25712 {source="MONDO:mim2gene_medgen"} ! PGAP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014349
name: pontocerebellar hypoplasia type 10
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411493"}
subset: ordo_malformation_syndrome {source="Orphanet:411493"}
subset: orphanet_rare {source="Orphanet:411493"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLP1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CLP1-related pontocerebellar hypoplasia" EXACT [Orphanet:411493]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1" EXACT [MONDO:design_pattern]
synonym: "PCH10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615803, Orphanet:411493]
synonym: "pontocerebellar hypoplasia, type 10" RELATED [MONDO:Lexical, OMIM:615803]
xref: DOID:0060279 {source="MONDO:equivalentTo"}
xref: GARD:17680 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:411493/attributed", source="Orphanet:411493/ntbt", source="Orphanet:411493"}
xref: MEDGEN:1676575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615803 {source="Orphanet:411493/e", source="DOID:0060279", source="MONDO:equivalentTo", source="Orphanet:411493"}
xref: Orphanet:411493 {source="DOID:0060279", source="MONDO:equivalentTo", source="OMIM:615803"}
xref: UMLS:C5190575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676575"}
is_a: MONDO:0020135 {source="DC-OMIM:615803", source="DOID:0060279", source="MONDO:Redundant", source="OMIM:615803", source="Orphanet:411493"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16999 ! CLP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16999 {source="MONDO:mim2gene_medgen"} ! CLP1

[Term]
id: MONDO:0014350
name: Seckel syndrome 8
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16013", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DNA2 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL8" EXACT ABBREVIATION [DOID:0070009, MONDO:Lexical, OMIM:615807]
synonym: "Seckel syndrome 8" EXACT [MONDO:Lexical, OMIM:615807]
synonym: "Seckel syndrome caused by mutation in DNA2" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 8" EXACT [MONDORULE:1, OMIM:615807]
xref: DOID:0070009 {source="MONDO:equivalentTo"}
xref: GARD:16013 {source="MONDO:GARD"}
xref: MEDGEN:856014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615807 {source="MONDO:equivalentTo", source="DOID:0070009"}
xref: Orphanet:808 {source="OMIM:615807"}
xref: UMLS:C3891452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:856014"}
is_a: MONDO:0019342 {source="DC-OMIM:615807", source="DOID:0070009", source="MONDO:Redundant", source="OMIM:615807"} ! Seckel syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2939 ! DNA2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615807"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2939 {source="MONDO:mim2gene_medgen"} ! DNA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014351
name: pontocerebellar hypoplasia type 9
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369920"}
subset: ordo_malformation_syndrome {source="Orphanet:369920"}
subset: orphanet_rare {source="Orphanet:369920"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMPD2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" EXACT [MONDO:design_pattern]
synonym: "PCH9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615809, Orphanet:369920]
synonym: "pontocerebellar hypoplasia, type 9" RELATED [MONDO:Lexical, OMIM:615809]
xref: DOID:0060278 {source="MONDO:equivalentTo"}
xref: GARD:17590 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:369920", source="Orphanet:369920/attributed", source="Orphanet:369920/ntbt", source="DOID:0060278"}
xref: MEDGEN:862791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615809 {source="Orphanet:369920", source="DOID:0060278", source="MONDO:equivalentTo", source="Orphanet:369920/e"}
xref: Orphanet:369920 {source="DOID:0060278", source="MONDO:equivalentTo", source="OMIM:615809"}
xref: UMLS:C4014354 {source="MEDGEN:862791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020135 {source="DC-OMIM:615809", source="DOID:0060278", source="MONDO:Redundant", source="OMIM:615809", source="Orphanet:369920"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/469 ! AMPD2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/469 {source="MONDO:mim2gene_medgen"} ! AMPD2

[Term]
id: MONDO:0014352
name: abdominal obesity-metabolic syndrome 3
def: "Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "abdominal obesity-metabolic syndrome 3" EXACT [MONDO:Lexical, OMIM:615812]
synonym: "abdominal obesity-metabolic syndrome type 3" EXACT [DOID:0060612, MONDORULE:1, OMIM:615812]
synonym: "AOMS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615812]
synonym: "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" RELATED [OMIM:615812]
synonym: "DYRK1B metabolic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "metabolic syndrome caused by mutation in DYRK1B" EXACT [MONDO:design_pattern]
xref: DOID:0060612 {source="MONDO:equivalentTo"}
xref: MEDGEN:862798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615812 {source="MONDO:equivalentTo", source="DOID:0060612"}
xref: UMLS:C4014361 {source="MEDGEN:862798", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000816 {source="DC-OMIM:615812", source="DOID:0060612", source="MONDO:Redundant", source="OMIM:615812"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
intersection_of: MONDO:0000816 ! abdominal obesity-metabolic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3092 ! DYRK1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3092 {source="MONDO:mim2gene_medgen"} ! DYRK1B

[Term]
id: MONDO:0014353
name: immunodeficiency 23
subset: gard_rare {source="GARD:4331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443811"}
subset: orphanet_rare {source="Orphanet:443811"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CID due to PGM3 deficiency" EXACT [Orphanet:443811]
synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [Orphanet:443811]
synonym: "combined inflammatory and immunologic defect" EXACT [MONDO:0009004, OMIM:216920]
synonym: "IMD23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615816]
synonym: "immunodeficiency 23" EXACT [MONDO:Lexical, OMIM:615816]
synonym: "immunodeficiency type 23" EXACT [MONDORULE:2, OMIM:615816]
synonym: "immunodeficiency with hyper IgE and cognitive impairment" EXACT [OMIM:615816]
synonym: "immunodeficiency-vasculitis-myoclonus syndrome" EXACT [OMIM:615816]
synonym: "PGM3-CDG" EXACT CLINGEN_LABEL []
synonym: "PGM3-EXACT congenital disorder of glycosylation" EXACT [Orphanet:443811]
synonym: "phosphoglucomutase 3 deficiency" EXACT [GARD:0004331]
synonym: "phosphoglucomutase deficiency type 3" EXACT [GARD:0004331]
xref: DOID:0111953 {source="MONDO:equivalentTo"}
xref: GARD:4331 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:443811", source="Orphanet:443811/attributed", source="Orphanet:443811/ntbt"}
xref: MEDGEN:862808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565684 {source="MONDO:equivalentTo"}
xref: OMIM:216920 {source="MONDO:equivalentObsolete"}
xref: OMIM:615816 {source="MONDO:equivalentTo", source="Orphanet:443811", source="MONDO:preferredExternal", source="Orphanet:443811/e"}
xref: Orphanet:443811 {source="MONDO:equivalentTo"}
xref: UMLS:C4014371 {source="MEDGEN:862808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:615816"} ! hereditary disease
is_a: MONDO:0017749 {source="Orphanet:443811"} ! disorder of multiple glycosylation
is_a: MONDO:0021094 {source="OMIM:615816"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8907 {source="MONDO:mim2gene_medgen"} ! PGM3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3799" xsd:anyURI

[Term]
id: MONDO:0014354
name: intellectual disability, autosomal recessive 43
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22565", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4" EXACT [MONDO:design_pattern]
synonym: "intellectual developmental disorder, autosomal recessive 43" EXACT [OMIM:615817, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 43" EXACT [MONDO:Lexical, OMIM:615817]
synonym: "intellectual disability, autosomal recessive type 43" EXACT [MONDORULE:2, OMIM:615817]
synonym: "mental retardation, autosomal recessive 43" RELATED DEPRECATED [MONDO:Lexical, OMIM:615817]
synonym: "mental retardation, autosomal recessive type 43" EXACT DEPRECATED [MONDORULE:2, OMIM:615817]
synonym: "MRT43" RELATED DEPRECATED [MONDO:Lexical, OMIM:615817]
synonym: "WASHC4 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081207 {source="MONDO:equivalentTo"}
xref: GARD:22565 {source="MONDO:GARD"}
xref: MEDGEN:862823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615817 {source="MONDO:equivalentTo"}
xref: UMLS:C4014386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862823"}
is_a: MONDO:0019502 {source="DC-OMIM:615817", source="MONDO:Redundant", source="OMIM:615817"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29174 ! WASHC4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29174 {source="MONDO:mim2gene_medgen"} ! WASHC4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014355
name: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
subset: gard_rare {source="GARD:16014", source="MONDO:GARD"}
subset: rare
synonym: "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" EXACT [MONDO:Lexical, OMIM:615821]
synonym: "DCWHKTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615821]
synonym: "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" EXACT OMO:0003005 []
synonym: "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis" EXACT [OMIM:615821, OMIM:genemap2]
xref: GARD:16014 {source="MONDO:GARD"}
xref: MEDGEN:862830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615821 {source="MONDO:equivalentTo"}
xref: Orphanet:65282 {source="OMIM:615821"}
xref: UMLS:C4014393 {source="MONDO:equivalentTo", source="MEDGEN:862830", source="MONDO:MEDGEN"}
is_a: MONDO:0011581 {source="Orphanet:65282/btnt"} ! arrhythmogenic cardiomyopathy with wooly hair and keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014356
name: mitochondrial complex III deficiency nuclear type 7
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16015", source="MONDO:GARD"}
subset: rare
synonym: "MC3DN7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615824]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 7" RELATED [OMIM:615824]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCC2" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 7" RELATED [MONDO:Lexical, OMIM:615824]
synonym: "UQCC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080116 {source="MONDO:equivalentTo"}
xref: GARD:16015 {source="MONDO:GARD"}
xref: MEDGEN:862845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615824 {source="MONDO:equivalentTo", source="DOID:0080116"}
xref: Orphanet:1460 {source="OMIM:615824"}
xref: UMLS:C4014408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862845"}
is_a: MONDO:0000066 {source="DC-OMIM:615824", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0015448 {source="DOID:0080116", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21237 ! UQCC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21237 {source="MONDO:mim2gene_medgen"} ! UQCC2

[Term]
id: MONDO:0014357
name: intellectual disability, autosomal dominant 24
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16467", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 24" EXACT [DOID:0070054]
synonym: "autosomal dominant mental retardation 24" EXACT DEPRECATED [DOID:0070054]
synonym: "autosomal dominant non-syndromic intellectual disability 24" RELATED [DOID:0070054]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1" EXACT [MONDO:design_pattern]
synonym: "DEAF1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 24" EXACT [MONDO:Lexical, OMIM:615828]
synonym: "intellectual disability, autosomal dominant type 24" EXACT [MONDORULE:2, OMIM:615828]
synonym: "mental retardation, autosomal dominant 24" RELATED DEPRECATED [MONDO:Lexical, OMIM:615828]
synonym: "mental retardation, autosomal dominant type 24" EXACT DEPRECATED [MONDORULE:2, OMIM:615828]
synonym: "MRD24" EXACT ABBREVIATION [DOID:0070054, MONDO:Lexical, OMIM:615828]
synonym: "Vulto-van Silfout-de Vries syndrome" EXACT [OMIM:615828, OMIM:genemap2]
xref: DOID:0070054 {source="MONDO:equivalentTo"}
xref: GARD:16467 {source="MONDO:GARD"}
xref: MEDGEN:862851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615828 {source="DOID:0070054", source="MONDO:equivalentTo"}
xref: UMLS:C4014414 {source="MEDGEN:862851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:615828"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14677 ! DEAF1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14677 {source="MONDO:mim2gene_medgen"} ! DEAF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014358
name: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412069"}
subset: ordo_malformation_syndrome {source="Orphanet:412069"}
subset: orphanet_rare {source="Orphanet:412069"}
subset: rare
synonym: "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant intellectual disability 25" EXACT [DOID:0070055]
synonym: "autosomal dominant mental retardation 25" EXACT DEPRECATED [DOID:0070055]
synonym: "intellectual disability, autosomal dominant 25" RELATED [OMIM:615829]
synonym: "mental retardation, autosomal dominant 25" RELATED DEPRECATED [OMIM:615829]
synonym: "MRD25" EXACT ABBREVIATION [DOID:0070055]
synonym: "Xia-Gibbs syndrome" EXACT [OMIM:615829, Orphanet:412069]
xref: DOID:0070055 {source="MONDO:equivalentTo"}
xref: GARD:13409 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:412069", source="Orphanet:412069/attributed", source="Orphanet:412069/ntbt"}
xref: MEDGEN:862856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615829 {source="Orphanet:412069", source="DOID:0070055", source="MONDO:equivalentTo", source="Orphanet:412069/e"}
xref: Orphanet:412069 {source="MONDO:equivalentTo", source="OMIM:615829"}
xref: UMLS:C4014419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862856"}
is_a: MONDO:0000508 {source="Orphanet:412069", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070055", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25230 {source="MONDO:mim2gene_medgen"} ! AHDC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014359
name: pigmented nodular adrenocortical disease, primary, 4
def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16016", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTH-independent adrenal Cushing syndrome, somatic" RELATED [OMIM:615830]
synonym: "chromosome 19P13 Duplication syndrome" RELATED [OMIM:615830]
synonym: "Cushing syndrome, ACTH-independent adrenal, somatic" EXACT [OMIM:615830, OMIM:genemap2]
synonym: "Cushing syndrome, adrenal, due to Ppnad4" RELATED [OMIM:615830]
synonym: "pigmented nodular adrenocortical disease, primary, 4" EXACT [MONDO:Lexical, OMIM:615830]
synonym: "pigmented nodular adrenocortical disease, primary, type 4" EXACT [MONDORULE:1, OMIM:615830]
synonym: "PPNAD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615830]
synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA" EXACT [MONDO:design_pattern]
synonym: "PRKACA primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16016 {source="MONDO:GARD"}
xref: MEDGEN:862862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615830 {source="MONDO:equivalentTo"}
xref: Orphanet:423668 {source="OMIM:615830"}
xref: UMLS:C4014425 {source="MEDGEN:862862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015999 {source="DC-OMIM:615830", source="MONDO:Redundant", source="OMIM:615830"} ! primary pigmented nodular adrenocortical disease
intersection_of: MONDO:0015999 ! primary pigmented nodular adrenocortical disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9380 ! PRKACA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9380 {source="MONDO:mim2gene_medgen"} ! PRKACA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014360
name: developmental and epileptic encephalopathy, 21
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16017", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE21" EXACT ABBREVIATION [OMIM:615833]
synonym: "developmental and epileptic encephalopathy 21" EXACT [OMIM:615833, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in NECAP1" EXACT [MONDO:design_pattern]
synonym: "EIEE21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615833]
synonym: "epileptic encephalopathy, early infantile, 21" EXACT [MONDO:Lexical, OMIM:615833]
synonym: "epileptic encephalopathy, early infantile, type 21" EXACT [MONDORULE:2, OMIM:615833]
synonym: "NECAP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080443 {source="MONDO:equivalentTo"}
xref: GARD:16017 {source="MONDO:GARD"}
xref: MEDGEN:862867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615833 {source="MONDO:equivalentTo"}
xref: UMLS:C4014430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862867"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:615833", source="MONDO:Redundant", source="OMIM:615833"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24539 ! NECAP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24539 {source="MONDO:mim2gene_medgen"} ! NECAP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014361
name: autism spectrum disorder due to AUTS2 deficiency
def: "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." [Orphanet:352490]
subset: gard_rare {source="GARD:17520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352490"}
subset: orphanet_rare {source="Orphanet:352490"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASD due to AUTS2 deficiency" EXACT [Orphanet:352490]
synonym: "autism spectrum disorder due to AUTS2 deficiency" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant mental retardation 26" EXACT DEPRECATED [DOID:0070056]
synonym: "autosomal dominant non-syndromic intellectual disability 26" EXACT DEPRECATED [DOID:0070056]
synonym: "AUTS2 syndrome" EXACT [Orphanet:352490]
synonym: "intellectual developmental disorder, autosomal dominant 26" EXACT [OMIM:615834, OMIM:genemap2]
synonym: "intellectual disability type 26" EXACT [MONDORULE:2]
synonym: "mental retardation, autosomal dominant 26" EXACT DEPRECATED [MONDO:Lexical, OMIM:615834]
synonym: "mental retardation, autosomal dominant type 26" EXACT DEPRECATED [MONDORULE:2, OMIM:615834]
synonym: "MRD26" EXACT DEPRECATED [DOID:0070056, MONDO:Lexical, OMIM:615834]
xref: DOID:0070056 {source="MONDO:equivalentTo"}
xref: GARD:17520 {source="MONDO:GARD"}
xref: MEDGEN:862872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615834 {source="DOID:0070056", source="Orphanet:352490/e", source="MONDO:equivalentTo", source="Orphanet:352490"}
xref: Orphanet:352490 {source="MONDO:equivalentTo", source="OMIM:615834"}
xref: UMLS:C4014435 {source="MEDGEN:862872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352490", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:352490"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070056", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14262 {source="MONDO:mim2gene_medgen"} ! AUTS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014362
name: chromosome 16 inversion, 0.45-Mb
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 16 inversion, 0.45-Mb" EXACT [OMIM:615835]
xref: MEDGEN:862873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615835 {source="MONDO:equivalentTo"}
xref: UMLS:C4014436 {source="MEDGEN:862873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0043678 ! chromosome inversion disorder
intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human)

[Term]
id: MONDO:0014363
name: autosomal recessive nonsyndromic hearing loss 101
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 101" NARROW [DOID:0110462]
synonym: "autosomal recessive nonsyndromic deafness 101" NARROW [OMIM:615837]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 101" NARROW [DOID:0110462, MONDORULE:2]
synonym: "deafness, autosomal recessive 101" NARROW [MONDO:Lexical, OMIM:615837, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 101" NARROW [MONDORULE:2, OMIM:615837]
synonym: "DFNB101" NARROW ABBREVIATION [DOID:0110462, MONDO:Lexical, OMIM:615837]
synonym: "GRXCR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110462 {source="MONDO:equivalentTo"}
xref: GARD:22651 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110462"}
xref: MEDGEN:856148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615837 {source="MONDO:equivalentTo", source="DOID:0110462"}
xref: Orphanet:90636 {source="OMIM:615837"}
xref: UMLS:C3892049 {source="MEDGEN:856148", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:615837", source="DOID:0110462", source="MONDO:Redundant", source="OMIM:615837"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33862 ! GRXCR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33862 {source="MONDO:mim2gene_medgen"} ! GRXCR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014364
name: mitochondrial complex III deficiency nuclear type 8
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16018", source="MONDO:GARD"}
subset: rare
synonym: "LYRM7 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MC3DN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615838]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 8" RELATED [OMIM:615838]
synonym: "mitochondrial complex III deficiency caused by mutation in LYRM7" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency nuclear type 8" EXACT CLINGEN_LABEL []
synonym: "mitochondrial complex III deficiency, nuclear type 8" RELATED [MONDO:Lexical, OMIM:615838]
xref: DOID:0080117 {source="MONDO:equivalentTo"}
xref: GARD:16018 {source="MONDO:GARD"}
xref: MEDGEN:862877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615838 {source="MONDO:equivalentTo", source="DOID:0080117"}
xref: Orphanet:1460 {source="OMIM:615838"}
xref: UMLS:C4014440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862877"}
is_a: MONDO:0000066 {source="DC-OMIM:615838", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0015448 {source="DOID:0080117", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28072 ! LYRM7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28072 {source="MONDO:mim2gene_medgen"} ! LYRM7

[Term]
id: MONDO:0014365
name: spermatogenic failure 13
def: "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16019", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "azoospermia caused by mutation in TAF4B" EXACT [MONDO:design_pattern]
synonym: "spermatogenic failure 13" EXACT [MONDO:Lexical, OMIM:615841]
synonym: "spermatogenic failure type 13" EXACT [MONDORULE:2, OMIM:615841]
synonym: "SPGF13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615841]
synonym: "TAF4B azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070182 {source="MONDO:equivalentTo"}
xref: GARD:16019 {source="MONDO:GARD"}
xref: MEDGEN:862886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615841 {source="MONDO:equivalentTo"}
xref: Orphanet:399805 {source="OMIM:615841"}
xref: UMLS:C4014449 {source="MEDGEN:862886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:615841", source="MONDO:Redundant", source="OMIM:615841"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11538 ! TAF4B
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11538 ! TAF4B
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11538 {source="MONDO:mim2gene_medgen"} ! TAF4B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11538 {source="MONDO:mim2gene_medgen"} ! TAF4B

[Term]
id: MONDO:0014366
name: spermatogenic failure 14
def: "Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16020", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "azoospermia caused by mutation in ZMYND15" EXACT [MONDO:design_pattern]
synonym: "spermatogenic failure 14" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615842]
synonym: "spermatogenic failure type 14" EXACT [MONDORULE:2, OMIM:615842]
synonym: "SPGF14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615842]
synonym: "ZMYND15 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070179 {source="MONDO:equivalentTo"}
xref: GARD:16020 {source="MONDO:GARD"}
xref: MEDGEN:862891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615842 {source="MONDO:equivalentTo"}
xref: Orphanet:399805 {source="OMIM:615842"}
xref: UMLS:C4014454 {source="MEDGEN:862891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:615842", source="MONDO:Redundant", source="OMIM:615842"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20997 ! ZMYND15
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20997 ! ZMYND15
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20997 {source="MONDO:mim2gene_medgen"} ! ZMYND15
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20997 {source="MONDO:mim2gene_medgen"} ! ZMYND15

[Term]
id: MONDO:0014367
name: Aicardi-Goutieres syndrome 7
def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16021", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615846]
synonym: "Aicardi-Goutieres syndrome 7" EXACT [MONDO:Lexical, OMIM:615846]
synonym: "Aicardi-Goutieres syndrome caused by mutation in IFIH1" EXACT [MONDO:design_pattern]
synonym: "Aicardi-Goutieres syndrome type 7" EXACT [MONDORULE:1, OMIM:615846]
synonym: "IFIH1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16021 {source="MONDO:GARD"}
xref: MEDGEN:854829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168585 {source="MONDO:equivalentTo"}
xref: OMIM:615846 {source="MONDO:equivalentTo"}
xref: Orphanet:51 {source="OMIM:615846"}
xref: UMLS:C3888244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854829"}
is_a: MONDO:0018866 {source="DC-OMIM:615846", source="MONDO:Redundant", source="OMIM:615846"} ! Aicardi-Goutieres syndrome
is_a: MONDO:0700262 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! IFIH1-related type 1 interferonopathy
intersection_of: MONDO:0018866 ! Aicardi-Goutieres syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 ! IFIH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 {source="MONDO:mim2gene_medgen"} ! IFIH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0014368
name: tumor predisposition syndrome 3
subset: gard_rare {source="GARD:18582", source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "CMM10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615848]
synonym: "glioma susceptibility 9" EXACT [MONDO:Lexical, OMIM:616568]
synonym: "glioma susceptibility type 9" EXACT [MONDORULE:1, OMIM:616568]
synonym: "GLM9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616568]
synonym: "malignant glioma caused by mutation in POT1" EXACT [MONDO:design_pattern]
synonym: "melanoma, cutaneous malignant, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:615848]
synonym: "melanoma, cutaneous malignant, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:615848]
synonym: "susceptibility to cutaneous malignant melanoma 10" EXACT [OMIM:615848]
xref: GARD:18582 {source="MONDO:GARD"}
xref: MEDGEN:862913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615848 {source="MONDO:equivalentTo"}
xref: OMIM:616568 {source="MONDO:equivalentObsolete"}
xref: Orphanet:251627 {source="OMIM:616568", source="MONDO:relatedTo"}
xref: Orphanet:251630 {source="OMIM:616568", source="MONDO:relatedTo"}
xref: Orphanet:618 {source="OMIM:615848"}
xref: UMLS:C4014476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862913"}
is_a: MONDO:0020573 {source="OMIM:615848"} ! inherited disease susceptibility
is_a: MONDO:0024462 {source="OMIM:615848"} ! susceptibility to familial cutaneous melanoma
relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma
relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:615848", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17284 {source="MONDO:mim2gene_medgen"} ! POT1
relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6714" xsd:anyURI

[Term]
id: MONDO:0014369
name: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
def: "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." [Orphanet:420584]
subset: gard_rare {source="GARD:13349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420584"}
subset: ordo_malformation_syndrome {source="Orphanet:420584"}
subset: orphanet_rare {source="Orphanet:420584"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615849]
synonym: "Culler-Jones syndrome" RELATED [MONDO:Lexical, OMIM:615849]
synonym: "Pallister-Hall syndrome 2" RELATED [OMIM:615849]
synonym: "Pallister-Hall syndrome 2, formerly" RELATED [OMIM:615849]
xref: DOID:0080328 {source="MONDO:equivalentTo"}
xref: GARD:13349 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:420584", source="Orphanet:420584/attributed", source="Orphanet:420584/ntbt"}
xref: MEDGEN:862916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615849 {source="Orphanet:420584", source="MONDO:equivalentTo", source="Orphanet:420584/e", source="DOID:0080328"}
xref: Orphanet:420584 {source="MONDO:equivalentTo", source="OMIM:615849"}
xref: UMLS:C4014479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862916"}
is_a: MONDO:0000426 {source="DOID:0080328"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="DOID:0080328"} ! syndromic disease
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4318 {source="MONDO:mim2gene_medgen"} ! GLI2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0014370
name: pontocerebellar hypoplasia type 2E
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53" EXACT [MONDO:design_pattern]
synonym: "PCH2E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615851]
synonym: "pontocerebellar hypoplasia type 2E" EXACT CLINGEN_LABEL []
synonym: "pontocerebellar hypoplasia, type 2E" RELATED [MONDO:Lexical, OMIM:615851]
synonym: "VPS53 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060271 {source="MONDO:equivalentTo"}
xref: GARD:18348 {source="MONDO:GARD"}
xref: MEDGEN:862925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615851 {source="MONDO:equivalentTo", source="DOID:0060271"}
xref: Orphanet:247198 {source="OMIM:615851"}
xref: UMLS:C4014488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862925"}
is_a: MONDO:0020135 {source="DC-OMIM:615851", source="DOID:0060271", source="MONDO:Redundant", source="OMIM:615851"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25608 ! VPS53
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25608 {source="MONDO:mim2gene_medgen"} ! VPS53

[Term]
id: MONDO:0014371
name: developmental and epileptic encephalopathy, 23
subset: gard_rare {source="GARD:17687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411986"}
subset: ordo_malformation_syndrome {source="Orphanet:411986"}
subset: orphanet_rare {source="Orphanet:411986"}
subset: rare
synonym: "developmental and epileptic encephalopathy 23" EXACT [OMIM:615859, OMIM:genemap2]
synonym: "developmental and epileptic encephalopathy, 23" EXACT CLINGEN_LABEL []
synonym: "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [OMIM:615859]
synonym: "EIEE23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615859]
synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:411986]
synonym: "epileptic encephalopathy, early infantile, 23" EXACT [MONDO:Lexical, OMIM:615859]
synonym: "epileptic encephalopathy, early infantile, type 23" EXACT [MONDORULE:2, OMIM:615859]
xref: DOID:0080415 {source="MONDO:equivalentTo"}
xref: GARD:17687 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:411986/attributed", source="Orphanet:411986/ntbt", source="Orphanet:411986"}
xref: MEDGEN:862929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615859 {source="Orphanet:411986", source="MONDO:equivalentTo", source="Orphanet:411986/e"}
xref: Orphanet:411986 {source="MONDO:equivalentTo", source="OMIM:615859"}
xref: UMLS:C4014492 {source="MEDGEN:862929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:411986"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:411986"} ! monogenic epilepsy
is_a: MONDO:0100062 {source="DC-OMIM:615859", source="OMIM:615859"} ! developmental and epileptic encephalopathy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:411986", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19190 {source="MONDO:mim2gene_medgen"} ! DOCK7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI

[Term]
id: MONDO:0014372
name: cone-rod dystrophy 19
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16022", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 19" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615860]
synonym: "cone-rod dystrophy caused by mutation in TTLL5" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 19" EXACT [DOID:0111025, MONDORULE:2, OMIM:615860]
synonym: "CORD19" EXACT ABBREVIATION [DOID:0111025, MONDO:Lexical, OMIM:615860]
synonym: "TTLL5 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111025 {source="MONDO:equivalentTo"}
xref: GARD:16022 {source="MONDO:GARD"}
xref: MEDGEN:862938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615860 {source="MONDO:equivalentTo", source="DOID:0111025"}
xref: UMLS:C4014501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862938"}
is_a: MONDO:0015993 {source="DC-OMIM:615860", source="DOID:0111025", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19963 ! TTLL5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19963 {source="MONDO:mim2gene_medgen"} ! TTLL5

[Term]
id: MONDO:0014373
name: nephrotic syndrome, type 10
def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EMP2 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nephrotic syndrome caused by mutation in EMP2" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 10" EXACT [MONDO:Lexical, OMIM:615861]
synonym: "NPHS10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615861]
xref: DOID:0080386 {source="MONDO:equivalentTo"}
xref: MEDGEN:862944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615861 {source="MONDO:equivalentTo"}
xref: Orphanet:656 {source="OMIM:615861"}
xref: Orphanet:69061 {source="OMIM:615861", source="MONDO:relatedTo"}
xref: UMLS:C4014507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862944"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:615861"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:615861"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3334 ! EMP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3334 {source="MONDO:mim2gene_medgen"} ! EMP2

[Term]
id: MONDO:0014374
name: nephronophthisis 18
def: "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP83 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in CEP83" EXACT []
synonym: "nephronophthisis 18" EXACT [MONDO:Lexical, OMIM:615862]
synonym: "nephronophthisis type 18" EXACT [DOID:0111125, MONDORULE:2, OMIM:615862]
synonym: "NPHP18" EXACT ABBREVIATION [DOID:0111125, MONDO:Lexical, OMIM:615862]
xref: DOID:0111125 {source="MONDO:equivalentTo"}
xref: MEDGEN:855697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615862 {source="MONDO:equivalentTo", source="DOID:0111125"}
xref: Orphanet:655 {source="OMIM:615862"}
xref: UMLS:C3890591 {source="MEDGEN:855697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019005 {source="DC-OMIM:615862", source="DOID:0111125", source="MONDO:Redundant", source="OMIM:615862"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17966 ! CEP83
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615862"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17966 {source="MONDO:mim2gene_medgen"} ! CEP83

[Term]
id: MONDO:0014375
name: congenital diarrhea 7 with exudative enteropathy
def: "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." [Orphanet:329242]
subset: gard_rare {source="GARD:17500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329242"}
subset: orphanet_rare {source="Orphanet:329242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [DOID:0060778, Orphanet:329242]
synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [DOID:0060778]
synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT OMO:0003005 []
synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT OMO:0003005 []
synonym: "congenital diarrhea caused by mutation in DGAT1" EXACT [MONDO:design_pattern]
synonym: "congenital diarrhoea caused by mutation in DGAT1" EXACT OMO:0003005 []
synonym: "DGAT1 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DGAT1 congenital diarrhoea" EXACT OMO:0003005 []
synonym: "DIAR7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615863]
synonym: "diarrhea 7" RELATED [MONDO:Lexical, OMIM:615863]
synonym: "diarrhea 7, protein-losing enteropathy type" EXACT [OMIM:615863, OMIM:genemap2]
synonym: "diarrhea type 7" EXACT [MONDORULE:1, OMIM:615863]
synonym: "diarrhoea 7" RELATED OMO:0003005 []
synonym: "diarrhoea 7, protein-losing enteropathy type" EXACT OMO:0003005 []
synonym: "diarrhoea type 7" EXACT OMO:0003005 []
xref: DOID:0060778 {source="MONDO:equivalentTo"}
xref: GARD:17500 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/attributed", source="Orphanet:329242/ntbt"}
xref: MEDGEN:862953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615863 {source="MONDO:equivalentTo", source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/e"}
xref: Orphanet:329242 {source="OMIM:615863", source="MONDO:equivalentTo", source="DOID:0060778"}
xref: UMLS:C4014516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862953"}
is_a: MONDO:0000824 {source="DC-OMIM:615863", source="DOID:0060778", source="MONDO:Redundant", source="OMIM:615863"} ! congenital diarrhea
is_a: MONDO:0005020 {source="Orphanet:329242", source="Orphanet:329242/inferred"} ! intestinal disorder
intersection_of: MONDO:0000824 ! congenital diarrhea
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2843 ! DGAT1
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2843 {source="MONDO:mim2gene_medgen"} ! DGAT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014376
name: intellectual disability, autosomal dominant 27
subset: gard_rare {source="GARD:16023", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 27" EXACT [DOID:0070057]
synonym: "autosomal dominant mental retardation 27" EXACT DEPRECATED [DOID:0070057]
synonym: "autosomal dominant non-syndromic intellectual disability 27" RELATED [DOID:0070057]
synonym: "Coffin-Siris syndrome 9" EXACT [OMIM:615866]
synonym: "CSS9" EXACT [OMIM:615866]
synonym: "intellectual disability, autosomal dominant 27" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615866]
synonym: "intellectual disability, autosomal dominant type 27" EXACT [MONDORULE:2, OMIM:615866]
synonym: "mental retardation, autosomal dominant 27" RELATED DEPRECATED [MONDO:Lexical, OMIM:615866]
synonym: "mental retardation, autosomal dominant type 27" EXACT DEPRECATED [MONDORULE:2, OMIM:615866]
synonym: "MRD27" EXACT ABBREVIATION [DOID:0070057, MONDO:Lexical, OMIM:615866]
xref: DOID:0070057 {source="MONDO:equivalentTo"}
xref: GARD:16023 {source="MONDO:GARD"}
xref: MEDGEN:862965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615866 {source="DOID:0070057", source="MONDO:equivalentTo"}
xref: Orphanet:1465 {source="OMIM:615866"}
xref: UMLS:C4014528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862965"}
is_a: MONDO:0015452 {source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070057", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11191 {source="MONDO:mim2gene_medgen"} ! SOX11

[Term]
id: MONDO:0014377
name: developmental and epileptic encephalopathy, 24
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16024", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE24" EXACT ABBREVIATION [OMIM:615871]
synonym: "developmental and epileptic encephalopathy 24" EXACT [OMIM:615871, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in HCN1" EXACT [MONDO:design_pattern]
synonym: "EIEE24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615871]
synonym: "epileptic encephalopathy, early infantile, 24" EXACT [MONDO:Lexical, OMIM:615871]
synonym: "epileptic encephalopathy, early infantile, type 24" EXACT [MONDORULE:2, OMIM:615871]
synonym: "HCN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080429 {source="MONDO:equivalentTo"}
xref: GARD:16024 {source="MONDO:GARD"}
xref: MEDGEN:862968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615871 {source="MONDO:equivalentTo"}
xref: UMLS:C4014531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862968"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:615871", source="MONDO:Redundant", source="OMIM:615871"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4845 ! HCN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4845 {source="MONDO:mim2gene_medgen"} ! HCN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014378
name: primary ciliary dyskinesia 29
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16025", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCNO primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD29" EXACT ABBREVIATION [DOID:0110600, MONDO:Lexical, OMIM:615872]
synonym: "ciliary dyskinesia, primary, 29" RELATED [MONDO:Lexical, OMIM:615872]
synonym: "ciliary dyskinesia, primary, 29, without situs inversus" RELATED [OMIM:615872]
synonym: "ciliary dyskinesia, primary, type 29" EXACT [MONDORULE:2, OMIM:615872]
synonym: "primary ciliary dyskinesia 29 without situs inversus" EXACT [DOID:0110600]
synonym: "primary ciliary dyskinesia caused by mutation in CCNO" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 29" EXACT [DOID:0110600, MONDORULE:2]
xref: DOID:0110600 {source="MONDO:equivalentTo"}
xref: GARD:16025 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110600"}
xref: MEDGEN:862971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C172393 {source="MONDO:equivalentTo"}
xref: OMIM:615872 {source="DOID:0110600", source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:615872"}
xref: UMLS:C4014534 {source="MEDGEN:862971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:615872", source="DOID:0110600", source="MONDO:Redundant", source="OMIM:615872"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18576 ! CCNO
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18576 {source="MONDO:mim2gene_medgen"} ! CCNO

[Term]
id: MONDO:0014379
name: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." [DOID:0070058]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12931", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1965"}
subset: ordo_disorder {source="Orphanet:404448"}
subset: ordo_malformation_syndrome {source="Orphanet:404448"}
subset: orphanet_rare {source="Orphanet:404448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADNP Syndrome" EXACT [NORD:1965]
synonym: "ADNP syndrome" RELATED [GARD:0012931]
synonym: "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant intellectual disability 28" EXACT [DOID:0070058]
synonym: "autosomal dominant mental retardation 28" EXACT DEPRECATED [DOID:0070058]
synonym: "Helsmoortel-VAN DER AA syndrome" RELATED [MONDO:Lexical, OMIM:615873]
synonym: "HVDAS" EXACT ABBREVIATION [DOID:0070058, MONDO:Lexical, OMIM:615873]
synonym: "intellectual disability, autosomal dominant 28" RELATED [OMIM:615873]
synonym: "mental retardation, autosomal dominant 28" RELATED DEPRECATED [OMIM:615873]
synonym: "MRD28" EXACT ABBREVIATION [DOID:0070058]
xref: DOID:0070058 {source="MONDO:equivalentTo"}
xref: GARD:12931 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:404448/attributed", source="Orphanet:404448/ntbt", source="Orphanet:404448"}
xref: MEDGEN:862975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1965 {source="MONDO:NORD"}
xref: OMIM:615873 {source="Orphanet:404448", source="DOID:0070058", source="MONDO:equivalentTo", source="Orphanet:404448/e"}
xref: Orphanet:404448 {source="OMIM:615873", source="MONDO:equivalentTo"}
xref: SCTID:766824003 {source="MONDO:equivalentTo"}
xref: UMLS:C4014538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862975"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404448", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:404448"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15766 {source="MONDO:mim2gene_medgen"} ! ADNP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014380
name: colobomatous microphthalmia-rhizomelic dysplasia syndrome
def: "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." [Orphanet:424099]
subset: gard_rare {source="GARD:17707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424099"}
subset: ordo_malformation_syndrome {source="Orphanet:424099"}
subset: orphanet_rare {source="Orphanet:424099"}
subset: rare
synonym: "MCOPS14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615877]
synonym: "MCSKS" RELATED ABBREVIATION [OMIM:615877]
synonym: "microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia" RELATED [OMIM:615877]
synonym: "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia" RELATED [OMIM:615877]
synonym: "microphthalmia, syndromic 14" RELATED [MONDO:Lexical, OMIM:615877]
synonym: "microphthalmia, syndromic type 14" EXACT [MONDORULE:2, OMIM:615877]
synonym: "microphthalmia-coloboma-rhizomelic skeletal dysplasia" EXACT [Orphanet:424099]
synonym: "microphthalmia/coloboma and skeletal dysplasia syndrome" RELATED [OMIM:615877]
xref: DOID:0111802 {source="MONDO:equivalentTo"}
xref: GARD:17707 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:424099/attributed", source="Orphanet:424099/ntbt", source="Orphanet:424099"}
xref: MEDGEN:862977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615877 {source="Orphanet:424099/e", source="MONDO:equivalentTo", source="Orphanet:424099"}
xref: Orphanet:424099 {source="MONDO:equivalentTo"}
xref: UMLS:C4014540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862977"}
is_a: MONDO:0016073 {source="DC-OMIM:615877", source="OMIM:615877", source="Orphanet:424099"} ! syndromic microphthalmia
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6758 {source="MONDO:mim2gene_medgen"} ! MAB21L2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0014381
name: cholestasis, progressive familial intrahepatic, 4
alt_id: MONDO:0018803
def: "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:9803", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:480483"}
subset: rare
synonym: "cholestasis, progressive familial intrahepatic 4" RELATED [GARD:0009803]
synonym: "cholestasis, progressive familial intrahepatic, 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615878]
synonym: "cholestasis, progressive familial intrahepatic, type 4" EXACT [MONDORULE:1, OMIM:615878]
synonym: "PFIC4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615878, Orphanet:480483]
synonym: "progressive familial intrahepatic cholestasis 4" RELATED [GARD:0009803]
synonym: "progressive familial intrahepatic cholestasis caused by mutation in TJP2" EXACT [MONDO:design_pattern]
synonym: "progressive familial intrahepatic cholestasis type 4" EXACT []
synonym: "TJP2 deficit" EXACT [Orphanet:480483]
synonym: "TJP2 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070224 {source="MONDO:equivalentTo"}
xref: GARD:9803 {source="MONDO:GARD"}
xref: MEDGEN:418976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201046 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615878 {source="MONDO:equivalentTo", source="DOID:0070224"}
xref: Orphanet:172 {source="OMIM:615878"}
xref: Orphanet:480483 {source="MONDO:equivalentTo", source="DOID:0070224"}
xref: Orphanet:79304 {source="OMIM:615878", source="MONDO:directSiblingOf"}
xref: UMLS:C2931067 {source="MEDGEN:418976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:615878", source="Orphanet:172/btnt", source="Orphanet:480483"} ! progressive familial intrahepatic cholestasis
intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11828 ! TJP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11828 {source="MONDO:mim2gene_medgen"} ! TJP2

[Term]
id: MONDO:0014382
name: Tatton-Brown-Rahman overgrowth syndrome
def: "A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures." [Orphanet:404443]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404443"}
subset: ordo_malformation_syndrome {source="Orphanet:404443"}
subset: orphanet_rare {source="Orphanet:404443"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DNMT3A-related overgrowth syndrome" EXACT [Orphanet:404443]
synonym: "tall stature-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:404443]
synonym: "Tatton Brown Rahman Syndrome" EXACT [NORD:102279]
synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT CLINGEN_LABEL [Orphanet:404443]
synonym: "TATTON-BROWN-Rahman syndrome" RELATED [MONDO:Lexical, OMIM:615879]
synonym: "TBRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615879]
xref: DOID:0112339 {source="MONDO:equivalentTo"}
xref: GARD:17674 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:404443/attributed", source="Orphanet:404443/ntbt", source="Orphanet:404443"}
xref: MEDGEN:862982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615879 {source="Orphanet:404443/e", source="MONDO:equivalentTo", source="Orphanet:404443"}
xref: Orphanet:404443 {source="MONDO:equivalentTo", source="OMIM:615879"}
xref: SCTID:768843007 {source="MONDO:equivalentTo"}
xref: UMLS:C4014545 {source="MEDGEN:862982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:404443"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404443", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2978 {source="MONDO:mim2gene_medgen"} ! DNMT3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6263" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014383
name: myopathy, tubular aggregate, 2
def: "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16026", source="MONDO:GARD"}
subset: rare
synonym: "myopathy, tubular aggregate, 2" EXACT [MONDO:Lexical, OMIM:615883]
synonym: "myopathy, tubular aggregate, type 2" EXACT [MONDORULE:1, OMIM:615883]
synonym: "ORAI1 tubular aggregate myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TAM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615883]
synonym: "tubular aggregate myopathy caused by mutation in ORAI1" EXACT [MONDO:design_pattern]
xref: DOID:0080686 {source="MONDO:equivalentTo"}
xref: GARD:16026 {source="MONDO:GARD"}
xref: MEDGEN:862994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615883 {source="MONDO:equivalentTo"}
xref: Orphanet:2593 {source="OMIM:615883"}
xref: UMLS:C4014557 {source="MEDGEN:862994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:615883", source="Orphanet:2593/btnt"} ! tubular aggregate myopathy
intersection_of: MONDO:0008051 ! tubular aggregate myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25896 ! ORAI1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25896 {source="MONDO:mim2gene_medgen"} ! ORAI1

[Term]
id: MONDO:0014384
name: hypotrichosis 12
def: "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16027", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypotrichosis 12" EXACT [MONDO:Lexical, OMIM:615885]
synonym: "hypotrichosis caused by mutation in RPL21" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 12" EXACT [DOID:0110709, MONDORULE:2, OMIM:615885]
synonym: "HYPT12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615885]
synonym: "hypt12" EXACT [DOID:0110709]
synonym: "RPL21 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110709 {source="MONDO:equivalentTo"}
xref: GARD:16027 {source="MONDO:GARD"}
xref: MEDGEN:863000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615885 {source="MONDO:equivalentTo", source="DOID:0110709"}
xref: Orphanet:55654 {source="OMIM:615885"}
xref: UMLS:C4014563 {source="MEDGEN:863000", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003037 {source="DOID:0110709", source="MONDO:Redundant", source="OMIM:615885"} ! hypotrichosis
is_a: MONDO:0018914 {source="Orphanet:55654/btnt"} ! hypotrichosis simplex
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10313 ! RPL21
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10313 {source="MONDO:mim2gene_medgen"} ! RPL21

[Term]
id: MONDO:0014385
name: amelogenesis imperfecta hypomaturation type 2A5
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16028", source="MONDO:GARD"}
subset: rare
synonym: "AI2A5" EXACT ABBREVIATION [DOID:0110063, MONDO:Lexical, OMIM:615887]
synonym: "amelogenesis imperfecta caused by mutation in SLC24A4" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypomaturation type IIA5" EXACT [DOID:0110063]
synonym: "amelogenesis imperfecta type IIA5" EXACT [DOID:0110063]
synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" RELATED [MONDO:Lexical, OMIM:615887]
synonym: "amelogenesis imperfecta, type IIA5" EXACT [OMIM:615887, OMIM:genemap2]
synonym: "SLC24A4 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110063 {source="MONDO:equivalentTo"}
xref: GARD:16028 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110063"}
xref: MEDGEN:863015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615887 {source="MONDO:equivalentTo", source="DOID:0110063"}
xref: Orphanet:100033 {source="OMIM:615887"}
xref: UMLS:C4014578 {source="MEDGEN:863015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2
is_a: MONDO:0019507 {source="DOID:0110063", source="MONDO:Redundant", source="OMIM:615887"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10978 ! SLC24A4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10978 {source="MONDO:mim2gene_medgen"} ! SLC24A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014386
name: platelet-type bleeding disorder 18
def: "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." [Orphanet:420566]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420566"}
subset: orphanet_rare {source="Orphanet:420566"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT18" EXACT ABBREVIATION [DOID:0111051, MONDO:Lexical, OMIM:615888]
synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT [DOID:0111051, Orphanet:420566]
synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [DOID:0111051]
synonym: "bleeding disorder, platelet-type, 18" RELATED [MONDO:Lexical, OMIM:615888]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2" EXACT [MONDO:design_pattern]
synonym: "platelet-type bleeding disorder 18" EXACT CLINGEN_LABEL []
synonym: "RASGRP2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111051 {source="MONDO:equivalentTo"}
xref: GARD:17695 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:420566/attributed", source="Orphanet:420566/ntbt", source="Orphanet:420566", source="DOID:0111051"}
xref: MEDGEN:863021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615888 {source="Orphanet:420566", source="MONDO:equivalentTo", source="DOID:0111051", source="Orphanet:420566/e"}
xref: Orphanet:420566 {source="OMIM:615888", source="MONDO:equivalentTo", source="DOID:0111051"}
xref: UMLS:C4014584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863021"}
is_a: MONDO:0000009 {source="DC-OMIM:615888", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:615888"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder
intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9879 ! RASGRP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9879 {source="MONDO:mim2gene_medgen"} ! RASGRP2

[Term]
id: MONDO:0014387
name: leukoencephalopathy, progressive, with ovarian failure
subset: gard_rare {source="GARD:18252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "leukoencephalopathy, progressive, with ovarian failure" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615889]
synonym: "LKENP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615889]
xref: DOID:0070396 {source="MONDO:equivalentTo"}
xref: GARD:18252 {source="MONDO:GARD"}
xref: MEDGEN:863025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200952 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615889 {source="MONDO:equivalentTo"}
xref: UMLS:C4014588 {source="MEDGEN:863025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0800448 {source="https://orcid.org/0000-0002-4142-7153"} ! leukoencephalopathy with vanishing white matter
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21022 {source="MONDO:mim2gene_medgen"} ! AARS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014388
name: familial median cleft of the upper and lower lips
def: "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." [Orphanet:401942]
subset: gard_rare {source="GARD:17663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401942"}
subset: ordo_malformation_syndrome {source="Orphanet:401942"}
subset: orphanet_rare {source="Orphanet:401942"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OFC14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615892]
synonym: "orofacial cleft 14" RELATED [MONDO:Lexical, OMIM:615892]
xref: DOID:0080407 {source="MONDO:equivalentTo"}
xref: GARD:17663 {source="MONDO:GARD"}
xref: ICD10CM:Q36.1 {source="Orphanet:401942/attributed", source="Orphanet:401942/ntbt", source="Orphanet:401942"}
xref: MEDGEN:863033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615892 {source="Orphanet:401942", source="MONDO:equivalentTo", source="Orphanet:401942/e"}
xref: Orphanet:401942 {source="MONDO:equivalentTo", source="OMIM:615892"}
xref: UMLS:C4014596 {source="MEDGEN:863033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="DC-OMIM:615892"} ! orofacial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0014389
name: polyglucosan body myopathy 1 with or without immunodeficiency
def: "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." [Orphanet:397937]
subset: gard_rare {source="GARD:17643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397937"}
subset: orphanet_rare {source="Orphanet:397937"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PGBM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615895, Orphanet:397937]
synonym: "polyglucosan body myopathy 1 with or without immunodeficiency" EXACT [MONDO:Lexical, OMIM:615895]
synonym: "polyglucosan body myopathy type 1" EXACT [MONDO:0018348]
synonym: "polyglucosan body myopathy, early-onset, with or without immunodeficiency" EXACT [OMIM:615895]
xref: GARD:17643 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:397937/attributed", source="Orphanet:397937/ntbt", source="Orphanet:397937"}
xref: MEDGEN:863042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200766 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615895 {source="MONDO:equivalentTo", source="Orphanet:397937/ntbt", source="Orphanet:397937"}
xref: Orphanet:329173 {source="OMIM:615895", source="MONDO:relatedTo"}
xref: Orphanet:397937 {source="OMIM:615895", source="MONDO:equivalentTo"}
xref: UMLS:C4014605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863042"}
is_a: MONDO:0000192 {source="DC-OMIM:615895", source="OMIM:615895"} ! polyglucosan body myopathy
is_a: MONDO:0002412 {source="Orphanet:397937", source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0003847 {source="OMIM:615895"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0016334 {source="Orphanet:397937", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuromuscular disease with dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0019058 {source="Orphanet:397937", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurometabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15864 {source="MONDO:mim2gene_medgen"} ! RBCK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2668" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0014390
name: hypotrichosis 13
def: "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypotrichosis 13" EXACT [MONDO:Lexical, OMIM:615896]
synonym: "hypotrichosis caused by mutation in KRT71" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis type 13" EXACT [DOID:0110710, MONDORULE:2, OMIM:615896]
synonym: "hypotrichosis with woolly hair" EXACT OMO:0003005 []
synonym: "hypotrichosis with wooly hair" EXACT [DOID:0110710, OMIM:615896]
synonym: "HYPT13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615896]
synonym: "hypt13" EXACT [DOID:0110710]
synonym: "KRT71 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110710 {source="MONDO:equivalentTo"}
xref: GARD:16029 {source="MONDO:GARD"}
xref: MEDGEN:863053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615896 {source="DOID:0110710", source="MONDO:equivalentTo"}
xref: Orphanet:170 {source="OMIM:615896"}
xref: UMLS:C4014616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863053"}
is_a: MONDO:0003037 {source="DC-OMIM:615896", source="DOID:0110710", source="MONDO:Redundant", source="OMIM:615896"} ! hypotrichosis
is_a: MONDO:0008686 {source="Orphanet:170/btnt"} ! isolated familial wooly hair disorder
intersection_of: MONDO:0003037 ! hypotrichosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28927 ! KRT71
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28927 {source="MONDO:mim2gene_medgen"} ! KRT71

[Term]
id: MONDO:0014391
name: severe combined immunodeficiency due to CTPS1 deficiency
def: "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." [Orphanet:420573]
subset: gard_rare {source="GARD:17696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420573"}
subset: orphanet_rare {source="Orphanet:420573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615897]
synonym: "immunodeficiency 24" RELATED [MONDO:Lexical, OMIM:615897]
synonym: "immunodeficiency type 24" EXACT [MONDORULE:2, OMIM:615897]
synonym: "SCID due to CTPS1 deficiency" EXACT [Orphanet:420573]
xref: DOID:0111938 {source="MONDO:equivalentTo"}
xref: GARD:17696 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:420573", source="Orphanet:420573/attributed", source="Orphanet:420573/ntbt"}
xref: MEDGEN:863054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615897 {source="Orphanet:420573", source="MONDO:equivalentTo", source="Orphanet:420573/e"}
xref: Orphanet:420573 {source="OMIM:615897", source="MONDO:equivalentTo"}
xref: SCTID:763623001 {source="MONDO:equivalentTo"}
xref: UMLS:C4014617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863054"}
is_a: MONDO:0044201 {source="Orphanet:420573"} ! T+ B+ severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2519 {source="MONDO:mim2gene_medgen"} ! CTPS1

[Term]
id: MONDO:0014392
name: developmental and epileptic encephalopathy, 25
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12901", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1914", source="MONDO:NORD"}
subset: rare
synonym: "DEE25" EXACT ABBREVIATION [OMIM:615905]
synonym: "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" EXACT [OMIM:615905, OMIM:genemap2]
synonym: "developmental and epileptic encephalopathy, 25" EXACT CLINGEN_LABEL []
synonym: "early infantile epileptic encephalopathy 25" EXACT [GARD:0012901]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC13A5" EXACT [MONDO:design_pattern]
synonym: "EIEE25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615905]
synonym: "epileptic encephalopathy, early infantile, 25" EXACT [MONDO:Lexical, OMIM:615905]
synonym: "epileptic encephalopathy, early infantile, type 25" EXACT [MONDORULE:2, OMIM:615905]
synonym: "SLC13A5 Citrate Transporter Disorder" EXACT [NORD:1914]
synonym: "SLC13A5 deficiency" RELATED [GARD:0012901]
synonym: "SLC13A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080453 {source="MONDO:equivalentTo"}
xref: GARD:12901 {source="MONDO:GARD"}
xref: MEDGEN:863058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1914 {source="MONDO:NORD"}
xref: OMIM:615905 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="GARD:0012901"}
xref: UMLS:C4014621 {source="MEDGEN:863058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:615905", source="MONDO:Redundant", source="OMIM:615905"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23089 ! SLC13A5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23089 {source="MONDO:mim2gene_medgen"} ! SLC13A5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12901/early-infantile-epileptic-encephalopathy-25" xsd:anyURI {source="GARD:0012901"}

[Term]
id: MONDO:0014393
name: lymphatic malformation 4
def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16468", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hereditary lymphedema caused by mutation in VEGFC" EXACT [MONDO:design_pattern]
synonym: "LMPH1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615907]
synonym: "lymphedema, hereditary, 1D" EXACT [MONDO:Lexical, OMIM:615907]
synonym: "lymphedema, hereditary, type 1D" EXACT [MONDORULE:4, OMIM:615907]
synonym: "VEGFC hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070209 {source="MONDO:equivalentTo"}
xref: GARD:16468 {source="MONDO:GARD"}
xref: MEDGEN:1651756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615907 {source="MONDO:equivalentTo"}
xref: Orphanet:79452 {source="OMIM:615907"}
xref: UMLS:C4747769 {source="MEDGEN:1651756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:615907", source="Orphanet:79452/btnt"} ! lymphatic malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12682 {source="MONDO:mim2gene_medgen"} ! VEGFC

[Term]
id: MONDO:0014394
name: Diamond-Blackfan anemia 13
def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16030", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615909]
synonym: "Diamond-Blackfan anaemia caused by mutation in RPS29" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan Anaemia type 13" EXACT OMO:0003005 []
synonym: "Diamond-Blackfan anemia 13" EXACT [MONDO:Lexical, OMIM:615909]
synonym: "Diamond-Blackfan anemia caused by mutation in RPS29" EXACT [MONDO:design_pattern]
synonym: "Diamond-Blackfan Anemia type 13" EXACT [MONDORULE:2, OMIM:615909]
synonym: "RPS29 Diamond-Blackfan anaemia" EXACT OMO:0003005 []
synonym: "RPS29 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111889 {source="MONDO:equivalentTo"}
xref: GARD:16030 {source="MONDO:GARD"}
xref: MEDGEN:863078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615909 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:615909"}
xref: UMLS:C4014641 {source="MEDGEN:863078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="DC-OMIM:615909", source="MONDO:Redundant", source="OMIM:615909"} ! Diamond-Blackfan anemia
intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10419 ! RPS29
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10419 {source="MONDO:mim2gene_medgen"} ! RPS29

[Term]
id: MONDO:0014395
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2
def: "An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." [DOID:0060214, OMIM:615911, PMID:24934289]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" EXACT [DOID:0060214, MONDO:Lexical, OMIM:615911]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 2" EXACT [MONDORULE:1, OMIM:615911]
synonym: "FTDALS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615911]
xref: DOID:0060214 {source="MONDO:equivalentTo"}
xref: GARD:18397 {source="MONDO:GARD"}
xref: MEDGEN:863085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615911 {source="MONDO:equivalentTo", source="DOID:0060214"}
xref: Orphanet:275872 {source="OMIM:615911"}
xref: UMLS:C4014648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863085"}
is_a: MONDO:0005144 {source="OMIM:615911"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017161 {source="OMIM:615911", source="Orphanet:275872/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! frontotemporal dementia with motor neuron disease
is_a: MONDO:0030923 {source="OMIM:615911"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15559 {source="MONDO:mim2gene_medgen"} ! CHCHD10

[Term]
id: MONDO:0014396
name: dilated cardiomyopathy 1NN
def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16031", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 1NN" RELATED [MONDO:Lexical, OMIM:615916]
synonym: "cardiomyopathy, dilated, type 1Nn" EXACT [MONDORULE:9, OMIM:615916]
synonym: "CMD1NN" EXACT ABBREVIATION [DOID:0110432, MONDO:Lexical, OMIM:615916]
synonym: "dilated cardiomyopathy type 1NN" EXACT [DOID:0110432, MONDORULE:9]
synonym: "familial isolated dilated cardiomyopathy caused by mutation in RAF1" EXACT [MONDO:design_pattern]
synonym: "RAF1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110432 {source="MONDO:equivalentTo"}
xref: GARD:16031 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="DOID:0110432"}
xref: MEDGEN:863093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615916 {source="MONDO:equivalentTo", source="DOID:0110432"}
xref: UMLS:C4014656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863093"}
is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:615916"} ! familial dilated cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 {source="MONDO:mim2gene_medgen"} ! RAF1

[Term]
id: MONDO:0014397
name: combined oxidative phosphorylation defect type 20
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420728"}
subset: orphanet_rare {source="Orphanet:420728"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 20" RELATED [MONDO:Lexical, OMIM:615917]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in VARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 20" EXACT [MONDORULE:2, OMIM:615917]
synonym: "COXPD20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615917, Orphanet:420728]
synonym: "VARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111478 {source="MONDO:equivalentTo"}
xref: GARD:17699 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:420728/attributed", source="Orphanet:420728/ntbt", source="Orphanet:420728"}
xref: MEDGEN:863097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615917 {source="Orphanet:420728/e", source="MONDO:equivalentTo", source="Orphanet:420728"}
xref: Orphanet:420728 {source="MONDO:equivalentTo", source="OMIM:615917"}
xref: UMLS:C4014660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863097"}
is_a: MONDO:0000732 {source="DC-OMIM:615917", source="MONDO:Redundant", source="OMIM:615917"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21642 ! VARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21642 {source="MONDO:mim2gene_medgen"} ! VARS2

[Term]
id: MONDO:0014398
name: combined oxidative phosphorylation defect type 21
def: "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." [Orphanet:420733]
subset: gard_rare {source="GARD:17700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420733"}
subset: orphanet_rare {source="Orphanet:420733"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 21" RELATED [MONDO:Lexical, OMIM:615918]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 21" EXACT [MONDORULE:2, OMIM:615918]
synonym: "COXPD21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615918, Orphanet:420733]
synonym: "TARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111465 {source="MONDO:equivalentTo"}
xref: GARD:17700 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:420733", source="Orphanet:420733/attributed", source="Orphanet:420733/ntbt"}
xref: MEDGEN:1638633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615918 {source="MONDO:equivalentTo", source="Orphanet:420733", source="Orphanet:420733/e"}
xref: Orphanet:420733 {source="MONDO:equivalentTo", source="OMIM:615918"}
xref: SCTID:763211004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706316 {source="MEDGEN:1638633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:615918", source="MONDO:Redundant", source="OMIM:615918"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30740 ! TARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30740 {source="MONDO:mim2gene_medgen"} ! TARS2

[Term]
id: MONDO:0014399
name: ataxia-telangiectasia-like disorder 2
subset: gard_rare {source="GARD:17736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438134"}
subset: orphanet_rare {source="Orphanet:438134"}
subset: rare
synonym: "ataxia-telangiectasia-like disorder 2" EXACT [MONDO:Lexical, OMIM:615919]
synonym: "ataxia-telangiectasia-like disorder type 2" EXACT [MONDORULE:1, OMIM:615919]
synonym: "ATLD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615919]
synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" RELATED [Orphanet:438134]
xref: DOID:0081385 {source="MONDO:equivalentTo"}
xref: GARD:17736 {source="MONDO:GARD"}
xref: ICD10CM:G11.3 {source="Orphanet:438134", source="Orphanet:438134/attributed", source="Orphanet:438134/ntbt"}
xref: MEDGEN:863113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615919 {source="Orphanet:438134/e", source="MONDO:equivalentTo", source="Orphanet:438134"}
xref: Orphanet:438134 {source="MONDO:equivalentTo"}
xref: UMLS:C4014676 {source="MEDGEN:863113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011457 {source="DC-OMIM:615919", source="OMIM:615919"} ! ataxia-telangiectasia-like disorder
is_a: MONDO:0021190 {source="PMID:16961074", source="PMID:33718381", source="https://rarediseases.org/rare-diseases/bloom-syndrome/"} ! DNA repair disease
intersection_of: MONDO:0011457 ! ataxia-telangiectasia-like disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8729 ! PCNA
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:438134", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:438134", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:438134", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8729 {source="MONDO:mim2gene_medgen"} ! PCNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014400
name: retinitis pigmentosa 70
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16032", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PRPF4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 70" EXACT [MONDO:Lexical, OMIM:615922]
synonym: "retinitis pigmentosa caused by mutation in PRPF4" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 70" EXACT [DOID:0110392, MONDORULE:2, OMIM:615922]
synonym: "RP70" EXACT ABBREVIATION [DOID:0110392, MONDO:Lexical, OMIM:615922]
xref: DOID:0110392 {source="MONDO:equivalentTo"}
xref: GARD:16032 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110392"}
xref: MEDGEN:863118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615922 {source="DOID:0110392", source="MONDO:equivalentTo"}
xref: UMLS:C4014681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863118"}
is_a: MONDO:0019200 {source="DC-OMIM:615922", source="DOID:0110392", source="MONDO:Redundant", source="OMIM:615922"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17349 ! PRPF4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17349 {source="MONDO:mim2gene_medgen"} ! PRPF4

[Term]
id: MONDO:0014401
name: tall stature-scoliosis-macrodactyly of the great toes syndrome
def: "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." [Orphanet:329191]
subset: gard_rare {source="GARD:17495", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329191"}
subset: orphanet_rare {source="Orphanet:329191"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ECDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615923]
synonym: "epiphyseal chondrodysplasia, MIURA type" RELATED [MONDO:Lexical, OMIM:615923]
synonym: "Miura type epiphyseal chondrodysplasia" RELATED [DOID:0070316]
synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [Orphanet:329191]
xref: DOID:0070316 {source="MONDO:equivalentTo"}
xref: GARD:17495 {source="MONDO:GARD"}
xref: MEDGEN:863127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615923 {source="Orphanet:329191", source="MONDO:equivalentTo", source="Orphanet:329191/e"}
xref: Orphanet:329191 {source="MONDO:equivalentTo", source="OMIM:615923"}
xref: UMLS:C4014690 {source="MONDO:equivalentTo", source="MEDGEN:863127", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:24259409", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 {source="MONDO:mim2gene_medgen"} ! NPR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014402
name: severe neurodegenerative syndrome with lipodystrophy
subset: gard_rare {source="GARD:17552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363400"}
subset: orphanet_rare {source="Orphanet:363400"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy, progressive, with or without lipodystrophy" RELATED [MONDO:Lexical, OMIM:615924]
synonym: "PELD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615924]
synonym: "severe neurodegenerative syndrome due to BSCL2 deficiency" EXACT [Orphanet:363400]
xref: GARD:17552 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:363400", source="Orphanet:363400/attributed", source="Orphanet:363400/ntbt"}
xref: MEDGEN:863137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615924 {source="MONDO:equivalentTo", source="Orphanet:363400", source="Orphanet:363400/e"}
xref: Orphanet:363400 {source="MONDO:equivalentTo", source="OMIM:615924"}
xref: UMLS:C4014700 {source="MEDGEN:863137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020087 {source="Orphanet:363400"} ! hereditary lipodystrophy
is_a: MONDO:0024237 {source="Orphanet:363400"} ! inherited neurodegenerative disorder
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 {source="MONDO:mim2gene_medgen"} ! BSCL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0014403
name: short stature due to GHSR deficiency
def: "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported." [Orphanet:314811]
subset: gard_rare {source="GARD:17436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314811"}
subset: orphanet_rare {source="Orphanet:314811"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GHDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615925]
synonym: "ghrelin receptor deficiency" EXACT [Orphanet:314811]
synonym: "growth hormone deficiency, isolated partial" RELATED [MONDO:Lexical, OMIM:615925]
synonym: "short stature due to growth hormone secretagogue receptor deficiency" EXACT [Orphanet:314811]
xref: GARD:17436 {source="MONDO:GARD"}
xref: ICD10CM:E34.3 {source="Orphanet:314811/attributed", source="Orphanet:314811/ntbt", source="Orphanet:314811"}
xref: MEDGEN:1633096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615925 {source="Orphanet:314811", source="MONDO:equivalentTo", source="Orphanet:314811/e"}
xref: Orphanet:314811 {source="MONDO:equivalentTo", source="OMIM:615925"}
xref: SCTID:766817004 {source="MONDO:equivalentTo"}
xref: UMLS:C4707848 {source="MEDGEN:1633096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019824 {source="Orphanet:314811"} ! non-acquired pituitary hormone deficiency

[Term]
id: MONDO:0014404
name: Webb-Dattani syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome" EXACT [Orphanet:370006]
synonym: "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies" RELATED [OMIM:615926]
synonym: "WEBB-Dattani syndrome" RELATED [OMIM:615926]
synonym: "Webb-Dattani syndrome" EXACT [MONDO:Lexical, OMIM:615926]
synonym: "WEDAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615926]
xref: MEDGEN:863145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615926 {source="MONDO:equivalentTo"}
xref: Orphanet:370006 {source="MONDO:equivalentObsolete", source="OMIM:615926"}
xref: UMLS:C4014708 {source="MEDGEN:863145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:370006/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16876 {source="MONDO:mim2gene_medgen"} ! ARNT2

[Term]
id: MONDO:0014405
name: STING-associated vasculopathy with onset in infancy
def: "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." [Orphanet:425120]
subset: gard_rare {source="GARD:12357", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:425120"}
subset: orphanet_rare {source="Orphanet:425120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SAVI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615934, Orphanet:425120]
synonym: "STING-associated vasculopathy, infantile-onset" RELATED [MONDO:Lexical, OMIM:615934]
xref: DOID:0111457 {source="MONDO:equivalentTo"}
xref: GARD:12357 {source="MONDO:GARD"}
xref: ICD10CM:M35.8 {source="Orphanet:425120/attributed", source="Orphanet:425120/ntbt", source="Orphanet:425120"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:863159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615934 {source="Orphanet:425120/e", source="MONDO:equivalentTo", source="Orphanet:425120"}
xref: Orphanet:425120 {source="MONDO:equivalentTo"}
xref: SCTID:711164003 {source="MONDO:equivalentTo"}
xref: UMLS:C4014722 {source="MEDGEN:863159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:425120"} ! vascular disorder
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome
is_a: MONDO:0021166 {source="https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163"} ! inflammatory disease
is_a: MONDO:0957408 {source="Orphanet:425120", source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27962 {source="MONDO:mim2gene_medgen"} ! STING1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy" xsd:anyURI {source="GARD:0012357"}

[Term]
id: MONDO:0014406
name: pancreatic agenesis 2
def: "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:16033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PAGEN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615935]
synonym: "pancreatic agenesis 2" EXACT [MONDO:Lexical, OMIM:615935]
synonym: "pancreatic agenesis caused by mutation in PTF1A" EXACT [MONDO:design_pattern]
synonym: "pancreatic agenesis type 2" EXACT [MONDORULE:1, OMIM:615935]
synonym: "pancreatic hypoplasia, congenital 2" RELATED [OMIM:615935]
synonym: "PTF1A pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16033 {source="MONDO:GARD"}
xref: MEDGEN:863174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615935 {source="MONDO:equivalentTo"}
xref: Orphanet:2805 {source="OMIM:615935"}
xref: UMLS:C4014737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863174"}
is_a: MONDO:0009832 {source="MONDO:Redundant", source="OMIM:615935", source="Orphanet:2805/btnt"} ! pancreatic agenesis
intersection_of: MONDO:0009832 ! pancreatic agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23734 ! PTF1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23734 {source="MONDO:mim2gene_medgen"} ! PTF1A

[Term]
id: MONDO:0014407
name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18078", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" EXACT [MONDO:Lexical, OMIM:615937]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2" EXACT [MONDORULE:1, OMIM:615937]
synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3" EXACT [MONDO:design_pattern]
synonym: "MPPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615937]
xref: GARD:18078 {source="MONDO:GARD"}
xref: MEDGEN:863175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615937 {source="MONDO:equivalentTo"}
xref: Orphanet:83473 {source="OMIM:615937"}
xref: UMLS:C4014738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863175"}
is_a: MONDO:0019375 {source="DC-OMIM:615937", source="MONDO:Redundant", source="OMIM:615937"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
is_a: MONDO:0800485 {source="https://clinicalgenome.org/affiliation/50020/"} ! AKT3-related overgrowth spectrum
intersection_of: MONDO:0019375 ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/393 ! AKT3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/393 {source="MONDO:mim2gene_medgen"} ! AKT3

[Term]
id: MONDO:0014408
name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18079", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" EXACT [MONDO:Lexical, OMIM:615938]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3" EXACT [MONDORULE:1, OMIM:615938]
synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2" EXACT [MONDO:design_pattern]
synonym: "MPPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615938]
xref: GARD:18079 {source="MONDO:GARD"}
xref: MEDGEN:863179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615938 {source="MONDO:equivalentTo"}
xref: Orphanet:83473 {source="OMIM:615938"}
xref: UMLS:C4014742 {source="MEDGEN:863179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019375 {source="DC-OMIM:615938", source="MONDO:Redundant", source="OMIM:615938"} ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
intersection_of: MONDO:0019375 ! megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1583 ! CCND2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1583 {source="MONDO:mim2gene_medgen"} ! CCND2

[Term]
id: MONDO:0014409
name: intellectual disability, autosomal recessive 44
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22566", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 44" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615942]
synonym: "intellectual disability, autosomal recessive type 44" EXACT [MONDORULE:2, OMIM:615942]
synonym: "mental retardation, autosomal recessive 44" RELATED DEPRECATED [MONDO:Lexical, OMIM:615942]
synonym: "mental retardation, autosomal recessive type 44" EXACT DEPRECATED [MONDORULE:2, OMIM:615942]
synonym: "METTL23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MRT44" RELATED DEPRECATED [MONDO:Lexical, OMIM:615942]
xref: DOID:0081208 {source="MONDO:equivalentTo"}
xref: GARD:22566 {source="MONDO:GARD"}
xref: MEDGEN:863182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615942 {source="MONDO:equivalentTo"}
xref: UMLS:C4014745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863182"}
is_a: MONDO:0019502 {source="DC-OMIM:615942", source="MONDO:Redundant", source="OMIM:615942"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26988 ! METTL23
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26988 {source="MONDO:mim2gene_medgen"} ! METTL23

[Term]
id: MONDO:0014410
name: spinocerebellar ataxia type 37
def: "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements." [Orphanet:363710]
subset: gard_rare {source="GARD:12368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363710"}
subset: orphanet_rare {source="Orphanet:363710"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA37" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615945, Orphanet:363710]
synonym: "spinocerebellar ataxia 37" RELATED [MONDO:Lexical, OMIM:615945]
synonym: "spinocerebellar ataxia with altered vertical eye movements" EXACT [Orphanet:363710]
xref: DOID:0050984 {source="MONDO:equivalentTo"}
xref: GARD:12368 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:363710", source="Orphanet:363710/attributed", source="Orphanet:363710/ntbt"}
xref: MEDGEN:855217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615945 {source="DOID:0050984", source="MONDO:equivalentTo", source="Orphanet:363710", source="Orphanet:363710/e"}
xref: Orphanet:363710 {source="MONDO:equivalentTo", source="OMIM:615945"}
xref: SCTID:719301002 {source="MONDO:equivalentTo"}
xref: UMLS:C3889636 {source="MEDGEN:855217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019792 {source="Orphanet:363710"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2661 {source="MONDO:mim2gene_medgen"} ! DAB1

[Term]
id: MONDO:0014411
name: myopia 24, autosomal dominant
synonym: "myopia 24, autosomal dominant" EXACT [MONDO:Lexical, OMIM:615946]
synonym: "MYP24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615946]
xref: MEDGEN:863199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615946 {source="MONDO:equivalentTo"}
xref: UMLS:C4014762 {source="MEDGEN:863199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:615946", source="OMIM:615946"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20502 {source="MONDO:mim2gene_medgen"} ! SLC39A5

[Term]
id: MONDO:0014412
name: hyperlipoproteinemia, type 1D
def: "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype
subset: ordo_subtype_of_a_disorder {source="Orphanet:535458"}
subset: rare
synonym: "familial hyperlipidemia caused by mutation in GPIHBP1" EXACT [MONDO:design_pattern]
synonym: "GPIHBP1 familial hyperlipidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hyperlipoproteinemia, type 1D" EXACT CLINGEN_LABEL []
synonym: "hyperlipoproteinemia, type ID" RELATED [OMIM:615947]
xref: DOID:0111420 {source="MONDO:equivalentTo"}
xref: GARD:17973 {source="MONDO:GARD"}
xref: MEDGEN:863204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615947 {source="Orphanet:535458", source="MONDO:equivalentTo"}
xref: Orphanet:411 {source="OMIM:615947"}
xref: Orphanet:535458 {source="MONDO:equivalentTo"}
xref: UMLS:C4014767 {source="MONDO:equivalentTo", source="MEDGEN:863204", source="MONDO:MEDGEN"}
is_a: MONDO:0001336 {source="DC-OMIM:615947", source="MONDO:indirect"} ! familial hyperlipidemia
is_a: MONDO:0018637 {source="Orphanet:444490/btnt", source="Orphanet:535458"} ! familial chylomicronemia syndrome
intersection_of: MONDO:0001336 ! familial hyperlipidemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24945 ! GPIHBP1
relationship: has_characteristic HP:0000007 {source="Orphanet:535458"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24945 {source="MONDO:mim2gene_medgen", source="Orphanet:535458"} ! GPIHBP1

[Term]
id: MONDO:0014413
name: orofaciodigital syndrome type 14
def: "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." [Orphanet:434179]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:434179"}
subset: ordo_malformation_syndrome {source="Orphanet:434179"}
subset: orphanet_rare {source="Orphanet:434179"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C2CD3 orofaciodigital syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "microcephaly-cerebral malformation-orofaciodigital syndrome" EXACT [Orphanet:434179]
synonym: "OFD14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615948, Orphanet:434179]
synonym: "oral-facial-digital syndrome type 14" EXACT [Orphanet:434179]
synonym: "orofaciodigital syndrome 14" RELATED [OMIM:615948]
synonym: "orofaciodigital syndrome caused by mutation in C2CD3" EXACT [MONDO:design_pattern]
synonym: "orofaciodigital syndrome type 14" EXACT [MONDORULE:2, OMIM:615948]
synonym: "orofaciodigital syndrome XIV" RELATED [MONDO:Lexical, OMIM:615948]
xref: DOID:0060958 {source="MONDO:equivalentTo"}
xref: GARD:13655 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:434179", source="Orphanet:434179/ntbt", source="Orphanet:434179/inclusion"}
xref: MEDGEN:1635470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615948 {source="Orphanet:434179", source="MONDO:equivalentTo", source="Orphanet:434179/e"}
xref: Orphanet:434179 {source="MONDO:equivalentTo", source="OMIM:615948"}
xref: SCTID:763837007 {source="MONDO:equivalentTo"}
xref: UMLS:C4706604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635470"}
is_a: MONDO:0015159 {source="Orphanet:434179"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015375 {source="DC-OMIM:615948", source="MONDO:Redundant", source="Orphanet:434179"} ! orofaciodigital syndrome
is_a: MONDO:0021147 ! disorder of development or morphogenesis
intersection_of: MONDO:0015375 ! orofaciodigital syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24564 ! C2CD3
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:434179", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24564 {source="MONDO:mim2gene_medgen"} ! C2CD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014414
name: STAT3-related early-onset multisystem autoimmune disease
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438159"}
subset: orphanet_rare {source="Orphanet:438159"}
subset: rare
synonym: "ADMIO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615952]
synonym: "ADMIO1" RELATED ABBREVIATION [OMIM:615952]
synonym: "autoimmune disease, multisystem, infantile-onset" RELATED [MONDO:Lexical, OMIM:615952]
synonym: "autoimmune disease, multisystem, infantile-onset, 1" RELATED [OMIM:615952]
xref: GARD:17737 {source="MONDO:GARD"}
xref: ICD10CM:M35.8 {source="Orphanet:438159/attributed", source="Orphanet:438159/ntbt", source="Orphanet:438159"}
xref: MEDGEN:863232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615952 {source="Orphanet:438159/e", source="MONDO:equivalentTo", source="Orphanet:438159"}
xref: Orphanet:438159 {source="MONDO:equivalentTo"}
xref: UMLS:C4014795 {source="MEDGEN:863232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000213 {source="DC-OMIM:615952", source="OMIM:615952"} ! autoimmune disease, multisystem, infantile-onset
is_a: MONDO:0002334 {source="MONDO:indirect"} ! hematopoietic and lymphoid system neoplasm
relationship: disease_has_basis_in_disruption_of GO:0019221 {source="PMID:25038750"} ! cytokine-mediated signaling pathway
relationship: excluded_subClassOf MONDO:0016537 {source="Orphanet:438159", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome
relationship: excluded_subClassOf MONDO:0019098 {source="Orphanet:438159", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune thrombocytopenia
relationship: excluded_subClassOf MONDO:0020108 {source="Orphanet:438159", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune hemolytic anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11364 {source="MONDO:mim2gene_medgen"} ! STAT3

[Term]
id: MONDO:0014415
name: kallikrein, decreased urinary activity of
subset: otar {source="MONDO:OTAR"}
synonym: "kallikrein, decreased urinary activity of" EXACT [OMIM:615953, OMIM:genemap2]
xref: MEDGEN:322759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563653 {source="MONDO:equivalentTo"}
xref: OMIM:615953 {source="MONDO:equivalentTo"}
xref: UMLS:C1835808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322759"}
is_a: MONDO:0003847 {source="MESH:C563653/inferred"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6357 {source="MONDO:mim2gene_medgen"} ! KLK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014416
name: ACTH-independent macronodular adrenal hyperplasia 2
def: "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:16034", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTH-independent macronodular adrenal hyperplasia 2" EXACT [MONDO:Lexical, OMIM:615954]
synonym: "ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation" EXACT [OMIM:615954, OMIM:genemap2]
synonym: "ACTH-independent macronodular adrenal hyperplasia type 2" EXACT [MONDORULE:1, OMIM:615954]
synonym: "AIMAH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615954]
synonym: "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5" EXACT [MONDO:design_pattern]
synonym: "primary macronodular adrenal hyperplasia" RELATED [OMIM:615954]
xref: DOID:0111624 {source="MONDO:equivalentTo"}
xref: GARD:16034 {source="MONDO:GARD"}
xref: MEDGEN:863240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615954 {source="MONDO:equivalentTo"}
xref: Orphanet:189427 {source="OMIM:615954"}
xref: UMLS:C4014803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863240"}
is_a: MONDO:0009049 {source="MONDO:Redundant", source="Orphanet:189427/btnt"} ! Cushing syndrome due to macronodular adrenal hyperplasia
intersection_of: MONDO:0009049 ! Cushing syndrome due to macronodular adrenal hyperplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25781 ! ARMC5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25781 {source="MONDO:mim2gene_medgen"} ! ARMC5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014417
name: spinocerebellar ataxia type 38
def: "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy." [Orphanet:423296]
subset: gard_rare {source="GARD:12369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423296"}
subset: orphanet_rare {source="Orphanet:423296"}
subset: rare
synonym: "SCA38" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615957, Orphanet:423296]
synonym: "spinocerebellar ataxia 38" RELATED [MONDO:Lexical, OMIM:615957]
synonym: "spinocerebellar ataxia type 38" EXACT [MONDORULE:2, OMIM:615957]
xref: DOID:0050985 {source="MONDO:equivalentTo"}
xref: GARD:12369 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:423296/attributed", source="Orphanet:423296/ntbt", source="Orphanet:423296"}
xref: MEDGEN:1379865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615957 {source="Orphanet:423296/e", source="MONDO:equivalentTo", source="DOID:0050985", source="Orphanet:423296"}
xref: Orphanet:423296 {source="MONDO:equivalentTo", source="OMIM:615957"}
xref: SCTID:734021001 {source="MONDO:equivalentTo"}
xref: UMLS:C4518337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379865"}
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0019793 {source="EFO:0009056", source="Orphanet:423296"} ! autosomal dominant cerebellar ataxia type III
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21308 {source="MONDO:mim2gene_medgen"} ! ELOVL5

[Term]
id: MONDO:0014418
name: myopathy, centronuclear, 5
def: "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16035", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive centronuclear myopathy caused by mutation in SPEG" EXACT [MONDO:design_pattern]
synonym: "centronuclear myopathy 5" EXACT [OMIM:615959, OMIM:genemap2]
synonym: "CNM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615959]
synonym: "myopathy, centronuclear, 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615959]
synonym: "myopathy, centronuclear, type 5" EXACT [MONDORULE:1, OMIM:615959]
synonym: "SPEG autosomal recessive centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111222 {source="MONDO:equivalentTo"}
xref: GARD:16035 {source="MONDO:GARD"}
xref: MEDGEN:863251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615959 {source="MONDO:equivalentTo"}
xref: Orphanet:169186 {source="OMIM:615959"}
xref: UMLS:C4014814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863251"}
is_a: MONDO:0015705 {source="MONDO:Redundant", source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy
is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:615959"} ! centronuclear myopathy
intersection_of: MONDO:0015705 ! autosomal recessive centronuclear myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16901 ! SPEG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16901 {source="MONDO:mim2gene_medgen"} ! SPEG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014419
name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
def: "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." [Orphanet:370022]
subset: gard_rare {source="GARD:17597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370022"}
subset: orphanet_rare {source="Orphanet:370022"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" EXACT CLINGEN_LABEL []
synonym: "PORETTI-Boltshauser syndrome" RELATED [MONDO:Lexical, OMIM:615960]
synonym: "Poretti-Boltshauser syndrome" EXACT [Orphanet:370022]
synonym: "PTBHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615960]
xref: GARD:17597 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:370022", source="Orphanet:370022/attributed", source="Orphanet:370022/ntbt"}
xref: MEDGEN:863258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615960 {source="MONDO:equivalentTo", source="Orphanet:370022", source="Orphanet:370022/e"}
xref: Orphanet:370022 {source="OMIM:615960", source="MONDO:equivalentTo"}
xref: UMLS:C4014821 {source="MEDGEN:863258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:370022", source="Orphanet:370022/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:370022", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6481 {source="MONDO:mim2gene_medgen"} ! LAMA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014420
name: short stature due to primary acid-labile subunit deficiency
def: "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity." [Orphanet:140941]
subset: gard_rare {source="GARD:16964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140941"}
subset: orphanet_rare {source="Orphanet:140941"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acid-labile SUBUNIT deficiency" RELATED [MONDO:Lexical, OMIM:615961]
synonym: "acid-labile subunit, deficiency of" EXACT [OMIM:615961, OMIM:genemap2]
synonym: "ACLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615961]
xref: GARD:16964 {source="MONDO:GARD"}
xref: ICD10CM:E34.3 {source="Orphanet:140941", source="Orphanet:140941/attributed", source="Orphanet:140941/ntbt"}
xref: MEDGEN:859716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615961 {source="Orphanet:140941/e", source="MONDO:equivalentTo", source="Orphanet:140941"}
xref: Orphanet:140941 {source="OMIM:615961", source="MONDO:equivalentTo"}
xref: SCTID:721074002 {source="MONDO:equivalentTo"}
xref: UMLS:C3900122 {source="MEDGEN:859716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015892 {source="Orphanet:140941"} ! growth hormone insensitivity syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5468 {source="MONDO:mim2gene_medgen"} ! IGFALS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014421
name: glucocorticoid resistance
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'reproductive system disorder' (MONDO:0005039) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0002-2825-0621)
subset: gard_rare {source="GARD:2499", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:786"}
subset: orphanet_rare {source="Orphanet:786"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cortisol resistance from glucocorticoid receptor defect" RELATED [OMIM:615962]
synonym: "GCCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615962]
synonym: "Gccr deficiency" RELATED [OMIM:615962]
synonym: "Gcr deficiency" RELATED [OMIM:615962]
synonym: "glucocorticoid receptor deficiency" RELATED [OMIM:615962]
synonym: "glucocorticoid resistance, generalised" RELATED OMO:0003005 []
synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical, OMIM:615962]
synonym: "Grl deficiency" RELATED [OMIM:615962]
xref: GARD:2499 {source="MONDO:GARD"}
xref: ICD10CM:E25.8 {source="Orphanet:786", source="Orphanet:786/attributed", source="Orphanet:786/ntbt"}
xref: icd11.foundation:125216923 {source="Orphanet:786", source="MONDO:equivalentTo"}
xref: MEDGEN:333960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564221 {source="MONDO:equivalentTo"}
xref: NANDO:2200358 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:615962 {source="Orphanet:786", source="MONDO:equivalentTo", source="Orphanet:786/e"}
xref: Orphanet:786 {source="OMIM:615962", source="MONDO:equivalentTo"}
xref: UMLS:C1841972 {source="MEDGEN:333960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015898 {source="Orphanet:786"} ! adrenogenital syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7978 {source="MONDO:mim2gene_medgen"} ! NR3C1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance" xsd:anyURI {source="GARD:0002499"}

[Term]
id: MONDO:0014422
name: vesicoureteral reflux 8
def: "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TNXB vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "vesicoureteral reflux (disease) caused by mutation in TNXB" EXACT []
synonym: "vesicoureteral reflux 8" EXACT [MONDO:Lexical, OMIM:615963]
synonym: "vesicoureteral reflux type 8" EXACT [MONDORULE:1, OMIM:615963]
synonym: "VUR8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615963]
xref: GARD:18425 {source="MONDO:GARD"}
xref: MEDGEN:863268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615963 {source="MONDO:equivalentTo"}
xref: Orphanet:289365 {source="OMIM:615963"}
xref: UMLS:C4014831 {source="MEDGEN:863268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017329 {source="MONDO:Redundant", source="OMIM:615963", source="Orphanet:289365/btnt"} ! familial vesicoureteral reflux
intersection_of: MONDO:0017329 ! familial vesicoureteral reflux
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11976 ! TNXB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11976 {source="MONDO:mim2gene_medgen"} ! TNXB

[Term]
id: MONDO:0014423
name: severe combined immunodeficiency due to DNA-PKcs deficiency
def: "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." [Orphanet:317425]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:317425"}
subset: orphanet_rare {source="Orphanet:317425"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615966]
synonym: "immunodeficiency 26 with or without neurologic abnormalities" RELATED [MONDO:Lexical, OMIM:615966]
synonym: "immunodeficiency 26, with or without neurologic abnormalities" EXACT [OMIM:615966, OMIM:genemap2]
synonym: "SCID due to DNA-PKcs deficiency" EXACT [Orphanet:317425]
xref: DOID:0111961 {source="MONDO:equivalentTo"}
xref: GARD:17441 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="Orphanet:317425", source="Orphanet:317425/attributed", source="Orphanet:317425/ntbt"}
xref: MEDGEN:863270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615966 {source="Orphanet:317425", source="MONDO:equivalentTo", source="Orphanet:317425/e"}
xref: Orphanet:317425 {source="MONDO:equivalentTo", source="OMIM:615966"}
xref: SCTID:716871006 {source="MONDO:equivalentTo"}
xref: UMLS:C4014833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863270"}
is_a: MONDO:0017855 {source="Orphanet:317425", source="PMID:31953710"} ! T-B- severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9413 {source="MONDO:mim2gene_medgen"} ! PRKDC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014424
name: obsolete congenital deficiency in alpha-fetoprotein
def: "OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." [Orphanet:168612]
comment: This is a biological anomaly and not a disease.
subset: ordo_biological_anomaly {source="Orphanet:168612"}
subset: ordo_disorder {source="Orphanet:168612"}
synonym: "AFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615969]
synonym: "ALPHA-fetoprotein deficiency" RELATED [MONDO:Lexical, OMIM:615969]
xref: GARD:17040 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C566300 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:615969 {source="MONDO:obsoleteEquivalent", source="Orphanet:168612", source="Orphanet:168612/e"}
xref: Orphanet:168612 {source="MONDO:obsoleteEquivalent", source="OMIM:615969"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0014425
name: obsolete hereditary persistence of alpha-fetoprotein
def: "OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" [Orphanet:168615]
comment: This is a biological anomaly and not a disease.
subset: ordo_biological_anomaly {source="Orphanet:168615"}
subset: ordo_disorder {source="Orphanet:168615"}
synonym: "ALPHA-fetoprotein, hereditary persistence OF" RELATED [MONDO:Lexical, OMIM:615970]
synonym: "hereditary persistence of alpha-fetoprotein" EXACT [OMIM:615970, OMIM:genemap2]
synonym: "HPAFP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615970]
xref: GARD:18647 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:615970 {source="MONDO:obsoleteEquivalent", source="Orphanet:168615", source="Orphanet:168615/e"}
xref: Orphanet:168615 {source="MONDO:obsoleteEquivalent", source="OMIM:615970"}
xref: SCTID:716697002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0014426
name: nanophthalmos 4
def: "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Nanophthalmia 4" RELATED [OMIM:615972]
synonym: "nanophthalmia caused by mutation in TMEM98" EXACT [MONDO:design_pattern]
synonym: "nanophthalmos 4" EXACT [MONDO:Lexical, OMIM:615972]
synonym: "nanophthalmos type 4" EXACT [MONDORULE:1, OMIM:615972]
synonym: "NNO4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615972]
synonym: "TMEM98 nanophthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18629 {source="MONDO:GARD"}
xref: MEDGEN:863285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615972 {source="MONDO:equivalentTo"}
xref: Orphanet:35612 {source="OMIM:615972"}
xref: UMLS:C4014848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863285"}
is_a: MONDO:0005514 {source="DC-OMIM:615972", source="MONDO:Redundant"} ! nanophthalmia
is_a: MONDO:0021129 {source="MONDO:Redundant", source="OMIM:615972", source="Orphanet:35612/btnt"} ! microphthalmia
intersection_of: MONDO:0005514 ! nanophthalmia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24529 ! TMEM98
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24529 {source="MONDO:mim2gene_medgen"} ! TMEM98

[Term]
id: MONDO:0014427
name: cone-rod dystrophy 20
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 20" EXACT [MONDO:Lexical, OMIM:615973]
synonym: "cone-rod dystrophy caused by mutation in POC1B" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 20" EXACT [DOID:0111026, MONDORULE:2, OMIM:615973]
synonym: "CORD20" EXACT ABBREVIATION [DOID:0111026, MONDO:Lexical, OMIM:615973]
synonym: "POC1B cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111026 {source="MONDO:equivalentTo"}
xref: GARD:16036 {source="MONDO:GARD"}
xref: MEDGEN:863293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615973 {source="MONDO:equivalentTo", source="DOID:0111026"}
xref: UMLS:C4014856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863293"}
is_a: MONDO:0015993 {source="DC-OMIM:615973", source="DOID:0111026", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30836 ! POC1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30836 {source="MONDO:mim2gene_medgen"} ! POC1B

[Term]
id: MONDO:0014428
name: autosomal recessive nonsyndromic hearing loss 102
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive deafness 102" NARROW [DOID:0110463]
synonym: "autosomal recessive nonsyndromic deafness 102" NARROW [OMIM:615974]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in EPS8" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 102" NARROW [DOID:0110463, MONDORULE:2]
synonym: "autosomal recessive nonsyndromic hearing loss 102" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal recessive 102" NARROW [MONDO:Lexical, OMIM:615974, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 102" NARROW [MONDORULE:2, OMIM:615974]
synonym: "DFNB102" NARROW ABBREVIATION [DOID:0110463, MONDO:Lexical, OMIM:615974]
synonym: "EPS8 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110463 {source="MONDO:equivalentTo"}
xref: GARD:22652 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110463"}
xref: MEDGEN:856149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615974 {source="MONDO:equivalentTo", source="DOID:0110463"}
xref: UMLS:C3892050 {source="MEDGEN:856149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:615974", source="DOID:0110463", source="MONDO:Redundant", source="OMIM:615974"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3420 ! EPS8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3420 {source="MONDO:mim2gene_medgen"} ! EPS8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014429
name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
def: "A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319581] {source="https://orcid.org/0000-0001-5208-3432"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319581"}
subset: orphanet_rare {source="Orphanet:319581"}
subset: predisposition
subset: rare
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT []
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319581]
synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319581]
synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319581]
synonym: "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IFNGR1 deficiency, autosomal dominant" EXACT [OMIM:615978]
synonym: "IMD27B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615978]
synonym: "immunodeficiency 27B" EXACT [MONDO:Lexical, OMIM:615978]
synonym: "immunodeficiency 27B, mycobacteriosis, AD" EXACT [OMIM:615978, OMIM:genemap2]
synonym: "immunodeficiency 27B, Mycobacteriosis, autosomal dominant" EXACT [OMIM:615978]
synonym: "immunodeficiency type 27B" EXACT [MONDORULE:4, OMIM:615978]
xref: DOID:0111956 {source="MONDO:equivalentTo"}
xref: ICD10CM:D84.8 {source="Orphanet:319581/attributed", source="Orphanet:319581/ntbt", source="Orphanet:319581"}
xref: MEDGEN:863300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615978 {source="Orphanet:319581", source="MONDO:equivalentTo", source="Orphanet:319581/e"}
xref: Orphanet:319581 {source="MONDO:equivalentTo", source="OMIM:615978"}
xref: UMLS:C4014863 {source="MEDGEN:863300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5439 {source="MONDO:mim2gene_medgen"} ! IFNGR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014430
name: intellectual disability, autosomal recessive 45
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22567", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31" EXACT [MONDO:design_pattern]
synonym: "FBXO31 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal recessive 45" EXACT [MONDO:Lexical, OMIM:615979]
synonym: "intellectual disability, autosomal recessive type 45" EXACT [MONDORULE:2, OMIM:615979]
synonym: "mental retardation, autosomal recessive 45" RELATED DEPRECATED [MONDO:Lexical, OMIM:615979]
synonym: "mental retardation, autosomal recessive type 45" EXACT DEPRECATED [MONDORULE:2, OMIM:615979]
synonym: "MRT45" RELATED DEPRECATED [MONDO:Lexical, OMIM:615979]
xref: DOID:0081209 {source="MONDO:equivalentTo"}
xref: GARD:22567 {source="MONDO:GARD"}
xref: MEDGEN:863301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615979 {source="MONDO:equivalentTo"}
xref: UMLS:C4014864 {source="MEDGEN:863301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:615979", source="MONDO:Redundant", source="OMIM:615979"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16510 ! FBXO31
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16510 {source="MONDO:mim2gene_medgen"} ! FBXO31

[Term]
id: MONDO:0014431
name: LIPE-related familial partial lipodystrophy
subset: gard_rare {source="GARD:13126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435660"}
subset: orphanet_rare {source="Orphanet:435660"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT [DOID:0070206]
synonym: "familial partial lipodystrophy type 6" RELATED [DOID:0070206]
synonym: "FPLD6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615980, Orphanet:435660]
synonym: "LIPE-related FPLD" EXACT [Orphanet:435660]
synonym: "lipodystrophy, familial partial, associated with Lipe mutations" RELATED [OMIM:615980]
synonym: "lipodystrophy, familial partial, type 6" RELATED [GARD:0013126, MONDO:Lexical, OMIM:615980]
xref: DOID:0070206 {source="MONDO:equivalentTo"}
xref: GARD:13126 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:435660/attributed", source="Orphanet:435660/ntbt", source="Orphanet:435660"}
xref: MEDGEN:863306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615980 {source="Orphanet:435660/e", source="MONDO:equivalentTo", source="Orphanet:435660"}
xref: Orphanet:435660 {source="MONDO:equivalentTo"}
xref: UMLS:C4014869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863306"}
is_a: MONDO:0000816 {source="DC-OMIM:615980"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0020088 {source="OMIM:615980", source="Orphanet:435660"} ! familial partial lipodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6621 {source="MONDO:mim2gene_medgen"} ! LIPE
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy" xsd:anyURI {source="GARD:0013126"}

[Term]
id: MONDO:0014432
name: Bardet-Biedl syndrome 2
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome" RELATED [GARD:0000821]
synonym: "Bardet-Biedl syndrome 2" EXACT [MONDO:Lexical, OMIM:615981]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS2" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 2" EXACT [DOID:0110124, MONDORULE:1, OMIM:615981]
synonym: "BBS" RELATED ABBREVIATION [GARD:0000821]
synonym: "BBS2" EXACT ABBREVIATION [DOID:0110124, GARD:0000821, MONDO:Lexical, OMIM:615981]
synonym: "BBS2 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110124 {source="MONDO:equivalentTo"}
xref: GARD:821 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110124"}
xref: MEDGEN:422453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537910 {source="MONDO:equivalentTo"}
xref: OMIM:615981 {source="MONDO:equivalentTo", source="DOID:0110124"}
xref: Orphanet:110 {source="GARD:0000821", source="OMIM:615981"}
xref: UMLS:C2936863 {source="MEDGEN:422453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:615981", source="DOID:0110124", source="MESH:C537910", source="MONDO:Redundant", source="OMIM:615981"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/967 ! BBS2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615981"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/967 {source="MONDO:mim2gene_medgen"} ! BBS2

[Term]
id: MONDO:0014433
name: Bardet-Biedl syndrome 4
subset: gard_rare {source="GARD:823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 4" EXACT [MONDO:Lexical, OMIM:615982]
synonym: "Bardet-Biedl syndrome type 4" EXACT [DOID:0110126, MONDORULE:1, OMIM:615982]
synonym: "BBS4" EXACT ABBREVIATION [DOID:0110126, MONDO:Lexical, OMIM:615982]
xref: DOID:0110126 {source="MONDO:equivalentTo"}
xref: GARD:823 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110126"}
xref: MEDGEN:423627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537912 {source="MONDO:equivalentTo"}
xref: OMIM:615982 {source="DOID:0110126", source="MONDO:equivalentTo"}
xref: Orphanet:110 {source="OMIM:615982"}
xref: UMLS:C2936864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423627"}
is_a: MONDO:0015229 {source="DC-OMIM:615982", source="DOID:0110126", source="EFO:0009024", source="MESH:C537912", source="OMIM:615982"} ! Bardet-Biedl syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615982"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/969 {source="MONDO:mim2gene_medgen"} ! BBS4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4" xsd:anyURI {source="GARD:0000823"}

[Term]
id: MONDO:0014434
name: Bardet-Biedl syndrome 5
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615983]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS5" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 5" EXACT [DOID:0110127, MONDORULE:1, OMIM:615983]
synonym: "BBS5" EXACT ABBREVIATION [DOID:0110127, MONDO:Lexical, OMIM:615983]
synonym: "BBS5 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110127 {source="MONDO:equivalentTo"}
xref: GARD:10204 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110127"}
xref: MEDGEN:856141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615983 {source="DOID:0110127", source="MONDO:equivalentTo"}
xref: UMLS:C3892039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:856141"}
is_a: MONDO:0015229 {source="DC-OMIM:615983", source="DOID:0110127", source="EFO:0009025", source="MONDO:Redundant", source="OMIM:615983"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/970 ! BBS5
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615983"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/970 {source="MONDO:mim2gene_medgen"} ! BBS5
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5" xsd:anyURI {source="GARD:0010204"}

[Term]
id: MONDO:0014435
name: Bardet-Biedl syndrome 7
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615984]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS7" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 7" EXACT [DOID:0110129, MONDORULE:1, OMIM:615984]
synonym: "BBS7" EXACT ABBREVIATION [DOID:0110129, MONDO:Lexical, OMIM:615984]
synonym: "BBS7 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110129 {source="MONDO:equivalentTo"}
xref: GARD:10206 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110129"}
xref: MEDGEN:347180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565916 {source="MONDO:equivalentTo"}
xref: OMIM:615984 {source="DOID:0110129", source="MONDO:equivalentTo"}
xref: UMLS:C1859565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347180"}
is_a: MONDO:0015229 {source="DC-OMIM:615984", source="DOID:0110129", source="EFO:0009026", source="MESH:C565916", source="MONDO:Redundant", source="OMIM:615984"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18758 ! BBS7
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615984"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18758 {source="MONDO:mim2gene_medgen"} ! BBS7
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7" xsd:anyURI {source="GARD:0010206"}

[Term]
id: MONDO:0014436
name: Bardet-Biedl syndrome 8
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615985]
synonym: "Bardet-Biedl syndrome caused by mutation in TTC8" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 8" EXACT [DOID:0110130, MONDORULE:1, OMIM:615985]
synonym: "BBS8" EXACT ABBREVIATION [DOID:0110130, MONDO:Lexical, OMIM:615985]
synonym: "TTC8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110130 {source="MONDO:equivalentTo"}
xref: GARD:10207 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110130"}
xref: MEDGEN:347181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565917 {source="MONDO:equivalentTo"}
xref: OMIM:615985 {source="MONDO:equivalentTo", source="DOID:0110130"}
xref: UMLS:C1859566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347181"}
is_a: MONDO:0015229 {source="DC-OMIM:615985", source="DOID:0110130", source="MESH:C565917", source="MONDO:Redundant", source="OMIM:615985"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20087 ! TTC8
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615985"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20087 {source="MONDO:mim2gene_medgen"} ! TTC8
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8" xsd:anyURI {source="GARD:0010207"}

[Term]
id: MONDO:0014437
name: Bardet-Biedl syndrome 9
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10208", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 9" EXACT [MONDO:Lexical, OMIM:615986]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS9" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 9" EXACT [DOID:0110131, MONDORULE:1, OMIM:615986]
synonym: "BBS9" EXACT ABBREVIATION [DOID:0110131, MONDO:Lexical, OMIM:615986]
synonym: "BBS9 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110131 {source="MONDO:equivalentTo"}
xref: GARD:10208 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110131"}
xref: MEDGEN:347182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565918 {source="MONDO:equivalentTo"}
xref: OMIM:615986 {source="MONDO:equivalentTo", source="DOID:0110131"}
xref: UMLS:C1859567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347182"}
is_a: MONDO:0015229 {source="DC-OMIM:615986", source="DOID:0110131", source="EFO:0009027", source="MESH:C565918", source="MONDO:Redundant", source="OMIM:615986"} ! Bardet-Biedl syndrome
is_a: MONDO:0700236 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BBS9-related ciliopathy
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30000 ! BBS9
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615986"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30000 {source="MONDO:mim2gene_medgen"} ! BBS9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9" xsd:anyURI {source="GARD:0010208"}

[Term]
id: MONDO:0014438
name: Bardet-Biedl syndrome 10
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10209", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 10" EXACT [MONDO:Lexical, OMIM:615987]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS10" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 10" EXACT [DOID:0110132, MONDORULE:2, OMIM:615987]
synonym: "BBS10" EXACT ABBREVIATION [DOID:0110132, MONDO:Lexical, OMIM:615987]
synonym: "BBS10 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110132 {source="MONDO:equivalentTo"}
xref: GARD:10209 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110132"}
xref: MEDGEN:347909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565919 {source="MONDO:equivalentTo"}
xref: OMIM:615987 {source="MONDO:equivalentTo", source="DOID:0110132"}
xref: UMLS:C1859568 {source="MEDGEN:347909", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:615987", source="DOID:0110132", source="EFO:0009022", source="MESH:C565919", source="MONDO:Redundant", source="OMIM:615987"} ! Bardet-Biedl syndrome
is_a: MONDO:0700237 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BBS10-related ciliopathy
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26291 ! BBS10
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615987"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26291 {source="MONDO:mim2gene_medgen"} ! BBS10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0014439
name: Bardet-Biedl syndrome 11
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 11" EXACT [MONDO:Lexical, OMIM:615988]
synonym: "Bardet-Biedl syndrome caused by mutation in TRIM32" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 11" EXACT [DOID:0110133, MONDORULE:2, OMIM:615988]
synonym: "BBS11" EXACT ABBREVIATION [DOID:0110133, MONDO:Lexical, OMIM:615988]
synonym: "TRIM32 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110133 {source="MONDO:equivalentTo"}
xref: GARD:10210 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110133"}
xref: MEDGEN:395295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565920 {source="MONDO:equivalentTo"}
xref: OMIM:615988 {source="MONDO:equivalentTo", source="DOID:0110133"}
xref: UMLS:C1859569 {source="MEDGEN:395295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0015229 {source="DC-OMIM:615988", source="DOID:0110133", source="MESH:C565920", source="MONDO:Redundant", source="OMIM:615988"} ! Bardet-Biedl syndrome
is_a: MONDO:0016153 ! qualitative or quantitative defects of TRIM32
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 ! TRIM32
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615988"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 {source="MONDO:mim2gene_medgen"} ! TRIM32

[Term]
id: MONDO:0014440
name: Bardet-Biedl syndrome 12
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10211", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 12" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615989]
synonym: "Bardet-Biedl syndrome caused by mutation in BBS12" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 12" EXACT [DOID:0110134, MONDORULE:2, OMIM:615989]
synonym: "BBS12" EXACT ABBREVIATION [DOID:0110134, MONDO:Lexical, OMIM:615989]
synonym: "BBS12 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110134 {source="MONDO:equivalentTo"}
xref: GARD:10211 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110134"}
xref: MEDGEN:347910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565921 {source="MONDO:equivalentTo"}
xref: OMIM:615989 {source="MONDO:equivalentTo", source="DOID:0110134"}
xref: UMLS:C1859570 {source="MEDGEN:347910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:615989", source="DOID:0110134", source="EFO:0009023", source="MESH:C565921", source="MONDO:Redundant", source="OMIM:615989"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26648 ! BBS12
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615989"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26648 {source="MONDO:mim2gene_medgen"} ! BBS12

[Term]
id: MONDO:0014441
name: Bardet-Biedl syndrome 13
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16037", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 13" EXACT [MONDO:Lexical, OMIM:615990]
synonym: "Bardet-Biedl syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 13" EXACT [DOID:0110135, MONDORULE:2, OMIM:615990]
synonym: "BBS13" EXACT ABBREVIATION [DOID:0110135, MONDO:Lexical, OMIM:615990]
synonym: "MKS1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110135 {source="MONDO:equivalentTo"}
xref: GARD:16037 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110135"}
xref: MEDGEN:393032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567140 {source="MONDO:equivalentTo"}
xref: OMIM:615990 {source="MONDO:equivalentTo", source="DOID:0110135"}
xref: Orphanet:110 {source="OMIM:615990"}
xref: UMLS:C2673873 {source="MEDGEN:393032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:615990", source="DOID:0110135", source="MESH:C567140", source="MONDO:Redundant", source="OMIM:615990"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 ! MKS1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615990"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 {source="MONDO:mim2gene_medgen"} ! MKS1

[Term]
id: MONDO:0014442
name: Bardet-Biedl syndrome 14
def: "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21." [DOID:0110136, PMID:18327255]
subset: gard_rare {source="GARD:16038", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 14" EXACT [MONDO:Lexical, OMIM:615991]
synonym: "Bardet-Biedl syndrome 14, modifier of" EXACT [OMIM:615991, OMIM:genemap2]
synonym: "Bardet-Biedl syndrome type 14" EXACT [DOID:0110136, MONDORULE:2, OMIM:615991]
synonym: "BBS14" EXACT ABBREVIATION [DOID:0110136, MONDO:Lexical, OMIM:615991]
xref: DOID:0110136 {source="MONDO:equivalentTo"}
xref: GARD:16038 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110136"}
xref: MEDGEN:393033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567141 {source="MONDO:equivalentTo"}
xref: OMIM:615991 {source="MONDO:equivalentTo", source="DOID:0110136"}
xref: Orphanet:110 {source="OMIM:615991"}
xref: UMLS:C2673874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393033"}
is_a: MONDO:0015229 {source="DC-OMIM:615991", source="DOID:0110136", source="MESH:C567141", source="MONDO:Redundant", source="OMIM:615991"} ! Bardet-Biedl syndrome
is_a: MONDO:0100451 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290-related ciliopathy
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 ! CEP290
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615991"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014443
name: Bardet-Biedl syndrome 15
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 15" EXACT [MONDO:Lexical, OMIM:615992]
synonym: "Bardet-Biedl syndrome caused by mutation in WDPCP" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 15" EXACT [DOID:0110137, MONDORULE:2, OMIM:615992]
synonym: "BBS15" EXACT ABBREVIATION [DOID:0110137, MONDO:Lexical, OMIM:615992]
synonym: "WDPCP Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110137 {source="MONDO:equivalentTo"}
xref: GARD:16039 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110137"}
xref: MEDGEN:461477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615992 {source="DOID:0110137", source="MONDO:equivalentTo"}
xref: Orphanet:110 {source="OMIM:615992"}
xref: UMLS:C3150127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461477"}
is_a: MONDO:0015229 {source="DC-OMIM:615992", source="DOID:0110137", source="MONDO:Redundant", source="OMIM:615992"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28027 ! WDPCP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28027 {source="MONDO:mim2gene_medgen"} ! WDPCP

[Term]
id: MONDO:0014444
name: Bardet-Biedl syndrome 16
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16040", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bardet-Biedl syndrome 16" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615993]
synonym: "Bardet-Biedl syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 16" EXACT [DOID:0110138, MONDORULE:2, OMIM:615993]
synonym: "BBS16" EXACT ABBREVIATION [DOID:0110138, MONDO:Lexical, OMIM:615993]
synonym: "SDCCAG8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110138 {source="MONDO:equivalentTo"}
xref: GARD:16040 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110138"}
xref: MEDGEN:855172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615993 {source="DOID:0110138", source="MONDO:equivalentTo"}
xref: Orphanet:110 {source="OMIM:615993"}
xref: UMLS:C3889474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:855172"}
is_a: MONDO:0015229 {source="DC-OMIM:615993", source="DOID:0110138", source="MONDO:Redundant", source="OMIM:615993"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10671 ! SDCCAG8
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615993"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10671 {source="MONDO:mim2gene_medgen"} ! SDCCAG8

[Term]
id: MONDO:0014445
name: Bardet-Biedl syndrome 17
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16041", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 17" EXACT [MONDO:Lexical, OMIM:615994]
synonym: "Bardet-Biedl syndrome caused by mutation in LZTFL1" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 17" EXACT [DOID:0110139, MONDORULE:2, OMIM:615994]
synonym: "BBS17" EXACT ABBREVIATION [DOID:0110139, MONDO:Lexical, OMIM:615994]
synonym: "LZTFL1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110139 {source="MONDO:equivalentTo"}
xref: GARD:16041 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110139"}
xref: MEDGEN:811538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615994 {source="DOID:0110139", source="MONDO:equivalentTo"}
xref: UMLS:C3714980 {source="MEDGEN:811538", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:615994", source="DOID:0110139", source="MONDO:Redundant", source="OMIM:615994"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6741 ! LZTFL1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615994"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6741 {source="MONDO:mim2gene_medgen"} ! LZTFL1

[Term]
id: MONDO:0014446
name: Bardet-Biedl syndrome 18
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16042", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 18" EXACT [MONDO:Lexical, OMIM:615995]
synonym: "Bardet-Biedl syndrome caused by mutation in BBIP1" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 18" EXACT [DOID:0110140, MONDORULE:2, OMIM:615995]
synonym: "BBIP1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "BBS18" EXACT ABBREVIATION [DOID:0110140, MONDO:Lexical, OMIM:615995]
xref: DOID:0110140 {source="MONDO:equivalentTo"}
xref: GARD:16042 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110140"}
xref: MEDGEN:812504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615995 {source="MONDO:equivalentTo", source="DOID:0110140"}
xref: UMLS:C3806174 {source="MEDGEN:812504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="DC-OMIM:615995", source="DOID:0110140", source="MONDO:Redundant", source="OMIM:615995"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28093 ! BBIP1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615995"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28093 {source="MONDO:mim2gene_medgen"} ! BBIP1

[Term]
id: MONDO:0014447
name: Bardet-Biedl syndrome 19
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 19" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615996]
synonym: "Bardet-Biedl syndrome caused by mutation in IFT27" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 19" EXACT [DOID:0110141, MONDORULE:2, OMIM:615996]
synonym: "BBS19" EXACT ABBREVIATION [DOID:0110141, MONDO:Lexical, OMIM:615996]
synonym: "IFT27 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110141 {source="MONDO:equivalentTo"}
xref: GARD:16043 {source="MONDO:GARD"}
xref: ICD10CM:Q87.89 {source="DOID:0110141"}
xref: MEDGEN:855173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615996 {source="MONDO:equivalentTo", source="DOID:0110141"}
xref: UMLS:C3889475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:855173"}
is_a: MONDO:0015229 {source="DC-OMIM:615996", source="DOID:0110141", source="MONDO:Redundant", source="OMIM:615996"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18626 ! IFT27
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615996"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18626 {source="MONDO:mim2gene_medgen"} ! IFT27

[Term]
id: MONDO:0014448
name: hyperthyroxinemia, familial dysalbuminemic
def: "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4." [MESH:D050010]
synonym: "bisalbuminemia" EXACT [Orphanet:276271]
synonym: "dysalbuminemic hyperthyroxinemia" EXACT [OMIM:615999, OMIM:genemap2]
synonym: "dysalbuminemic hypertriiodothyroninemia" EXACT [OMIM:615999, OMIM:genemap2]
synonym: "euthyroid hyperthyroxinemia 1" RELATED [OMIM:615999]
synonym: "familial Dysalbuminemic hyperthyroidism" EXACT [NCIT:C131813]
synonym: "familial Dysalbuminemic hyperthyroxinemia" EXACT [NCIT:C131813]
synonym: "FDAH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615999]
synonym: "FDH" RELATED ABBREVIATION [OMIM:615999]
synonym: "hyperthyroxinemia, familial Dysalbuminemic" EXACT [MONDO:Lexical, OMIM:615999]
synonym: "hyperthyroxinemia, familial dysalbuminemic" EXACT [OMIM:615999]
xref: MEDGEN:90974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050010 {source="MONDO:equivalentTo"}
xref: NCIT:C131813 {source="MONDO:equivalentTo"}
xref: OMIM:615999 {source="MONDO:equivalentTo"}
xref: Orphanet:276271 {source="MONDO:equivalentObsolete", source="OMIM:615999"}
xref: SCTID:237547004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90974"}
is_a: MONDO:0003847 {source="MESH:D050010"} ! hereditary disease
is_a: MONDO:0004425 {source="NCIT:C131813"} ! hyperthyroidism
is_a: MONDO:0005333 {source="MESH:D050010"} ! hyperthyroxinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/399 {source="MONDO:mim2gene_medgen"} ! ALB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014449
name: congenital analbuminemia
def: "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." [Orphanet:86816]
subset: gard_rare {source="GARD:13056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86816"}
subset: orphanet_rare {source="Orphanet:86816"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANALBA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616000]
synonym: "analbuminemia" RELATED [GARD:0013056, MONDO:Lexical, OMIM:616000]
xref: GARD:13056 {source="MONDO:GARD"}
xref: ICD10CM:R77.0 {source="Orphanet:86816", source="Orphanet:86816/attributed", source="Orphanet:86816/ntbt"}
xref: MEDGEN:930922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124851 {source="MONDO:equivalentTo"}
xref: OMIM:616000 {source="Orphanet:86816/e", source="MONDO:equivalentTo", source="Orphanet:86816"}
xref: Orphanet:86816 {source="MONDO:equivalentTo", source="OMIM:616000"}
xref: SCTID:718721006 {source="MONDO:equivalentTo"}
xref: UMLS:C4305253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930922"}
is_a: MONDO:0005570 {source="Orphanet:86816"} ! hematologic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015549"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/399 {source="MONDO:mim2gene_medgen"} ! ALB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia" xsd:anyURI {source="GARD:0013056"}

[Term]
id: MONDO:0014450
name: breasts and/or nipples, aplasia or hypoplasia of, 2
def: "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16044", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BNAH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616001]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, 2" EXACT [MONDO:Lexical, OMIM:616001]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, type 2" EXACT [MONDORULE:1, OMIM:616001]
synonym: "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" EXACT [MONDO:design_pattern]
synonym: "PTPRF isolated congenital breast hypoplasia/aplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16044 {source="MONDO:GARD"}
xref: MEDGEN:863355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616001 {source="MONDO:equivalentTo"}
xref: Orphanet:180188 {source="OMIM:616001"}
xref: UMLS:C4014918 {source="MEDGEN:863355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015855 {source="MONDO:Redundant", source="OMIM:616001", source="Orphanet:180188/btnt"} ! isolated congenital breast hypoplasia/aplasia
intersection_of: MONDO:0015855 ! isolated congenital breast hypoplasia/aplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9670 ! PTPRF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9670 {source="MONDO:mim2gene_medgen"} ! PTPRF

[Term]
id: MONDO:0014451
name: focal segmental glomerulosclerosis 7
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16045", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "focal segmental glomerulosclerosis 7" EXACT [MONDO:Lexical, OMIM:616002]
synonym: "focal segmental glomerulosclerosis caused by mutation in PAX2" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 7" EXACT [DOID:0111132, MONDORULE:1, OMIM:616002]
synonym: "FSGS7" EXACT ABBREVIATION [DOID:0111132, MONDO:Lexical, OMIM:616002]
synonym: "glomerulosclerosis, focal segmental, 7" RELATED [OMIM:616002]
synonym: "PAX2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111132 {source="MONDO:equivalentTo"}
xref: GARD:16045 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="DOID:0111132"}
xref: MEDGEN:863362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616002 {source="MONDO:equivalentTo", source="DOID:0111132"}
xref: Orphanet:656 {source="MONDO:relatedTo", source="OMIM:616002"}
xref: UMLS:C4014925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863362"}
is_a: MONDO:0005363 {source="DC-OMIM:616002", source="DOID:0111132", source="MONDO:Redundant", source="OMIM:616002"} ! inherited focal segmental glomerulosclerosis
intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8616 ! PAX2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8616 {source="MONDO:mim2gene_medgen"} ! PAX2

[Term]
id: MONDO:0014452
name: familial dysfibrinogenemia
def: "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." [Orphanet:98881]
subset: gard_rare {source="GARD:2004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98881"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital dysfibrinogenemia" RELATED [GARD:0002004]
synonym: "dysfibrinogenemia" EXACT [NCIT:C131659]
synonym: "dysfibrinogenemia, congenital" RELATED [OMIM:616004]
synonym: "dysfibrinogenemia, familial" RELATED [GARD:0002004]
synonym: "familial dysfibrinogenemia" EXACT [GARD:0002004]
synonym: "hypodysfibrinogenemia" EXACT [OMIM:616004, OMIM:genemap2]
synonym: "hypodysfibrinogenemia, congenital" RELATED [OMIM:616004]
xref: GARD:2004 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:98881/attributed", source="Orphanet:98881/ntbt", source="Orphanet:98881"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131659 {source="MONDO:equivalentTo"}
xref: OMIM:616004 {source="GARD:0002004", source="Orphanet:98881/e", source="MONDO:equivalentTo", source="Orphanet:98881"}
xref: Orphanet:248408 {source="OMIM:616004"}
xref: Orphanet:335 {source="OMIM:616004"}
xref: Orphanet:98881 {source="OMIM:616004", source="GARD:0002004", source="MONDO:equivalentTo"}
xref: SCTID:111589005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82901"}
is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C131659"} ! blood coagulation disease
is_a: MONDO:0018060 {source="Orphanet:98881"} ! congenital fibrinogen deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia" xsd:anyURI {source="GARD:0002004"}

[Term]
id: MONDO:0014453
name: immunodeficiency 36
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16046", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD36" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616005]
synonym: "immunodeficiency 36" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616005]
synonym: "immunodeficiency type 36" EXACT [MONDORULE:2, OMIM:616005]
xref: DOID:0111949 {source="MONDO:equivalentTo"}
xref: GARD:16046 {source="MONDO:GARD"}
xref: MEDGEN:863371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616005 {source="MONDO:equivalentTo"}
xref: Orphanet:397596 {source="OMIM:616005"}
xref: UMLS:C4014934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863371"}
is_a: MONDO:0018338 {source="Orphanet:397596/btnt"} ! activated PI3K-delta syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8979 {source="MONDO:mim2gene_medgen"} ! PIK3R1

[Term]
id: MONDO:0014454
name: Hennekam lymphangiectasia-lymphedema syndrome 2
def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FAT4 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome 2" EXACT [MONDO:Lexical, OMIM:616006]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 2" EXACT [MONDORULE:1, OMIM:616006]
synonym: "Hennekam syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern]
synonym: "HKLLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616006]
xref: GARD:16047 {source="MONDO:GARD"}
xref: MEDGEN:863376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616006 {source="MONDO:equivalentTo"}
xref: Orphanet:2136 {source="OMIM:616006"}
xref: UMLS:C4014939 {source="MEDGEN:863376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016256 {source="DC-OMIM:616006", source="MONDO:Redundant"} ! Hennekam syndrome
intersection_of: MONDO:0016256 ! Hennekam syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 ! FAT4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 {source="MONDO:mim2gene_medgen"} ! FAT4

[Term]
id: MONDO:0014455
name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
subset: gard_rare {source="GARD:17727", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436174"}
subset: orphanet_rare {source="Orphanet:436174"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAGSSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616007, Orphanet:436174]
synonym: "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" RELATED [MONDO:Lexical, OMIM:616007]
xref: GARD:17727 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:436174", source="Orphanet:436174/attributed", source="Orphanet:436174/ntbt"}
xref: MEDGEN:863379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616007 {source="MONDO:equivalentTo", source="Orphanet:436174", source="Orphanet:436174/e"}
xref: Orphanet:436174 {source="MONDO:equivalentTo"}
xref: UMLS:C4014942 {source="MEDGEN:863379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder
is_a: MONDO:0015514 {source="Orphanet:436174"} ! hereditary endocrine growth disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0016761 {source="Orphanet:436174", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29685 {source="MONDO:mim2gene_medgen"} ! IARS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014456
name: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
subset: gard_rare {source="GARD:17702", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423384"}
subset: orphanet_rare {source="Orphanet:423384"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutropenia, severe congenital, 6, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616022]
synonym: "SCN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616022]
xref: DOID:0112134 {source="MONDO:equivalentTo"}
xref: GARD:17702 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:423384/attributed", source="Orphanet:423384/ntbt", source="Orphanet:423384"}
xref: MEDGEN:863391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616022 {source="Orphanet:423384/e", source="MONDO:equivalentTo", source="Orphanet:423384"}
xref: Orphanet:423384 {source="MONDO:equivalentTo", source="OMIM:616022"}
xref: UMLS:C4014954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863391"}
is_a: MONDO:0018542 {source="DC-OMIM:616022", source="OMIM:616022", source="Orphanet:423384", source="Orphanet:423384/inferred"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26926 ! JAGN1
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26926 {source="MONDO:mim2gene_medgen"} ! JAGN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014457
name: hyperphosphatasia with intellectual disability syndrome 5
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glycosylphosphatidylinositol biosynthesis defect 11" RELATED [OMIM:616025]
synonym: "GPIBD11" RELATED ABBREVIATION [OMIM:616025]
synonym: "HPMRS5" RELATED DEPRECATED [MONDO:Lexical, OMIM:616025]
synonym: "hyperphosphatasia with intellectual disability syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616025]
synonym: "hyperphosphatasia with intellectual disability syndrome type 5" EXACT [MONDORULE:1, OMIM:616025]
synonym: "hyperphosphatasia with mental retardation syndrome 5" EXACT DEPRECATED [MONDO:Lexical, OMIM:616025]
synonym: "hyperphosphatasia with mental retardation syndrome type 5" EXACT DEPRECATED [MONDORULE:1, OMIM:616025]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW" EXACT [MONDO:design_pattern]
synonym: "PIGW hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070432 {source="MONDO:equivalentTo"}
xref: GARD:18353 {source="MONDO:GARD"}
xref: MEDGEN:863395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616025 {source="MONDO:equivalentTo"}
xref: Orphanet:247262 {source="OMIM:616025"}
xref: UMLS:C4014958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863395"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616025", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23213 ! PIGW
relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23213 {source="MONDO:mim2gene_medgen"} ! PIGW

[Term]
id: MONDO:0014458
name: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" EXACT [MONDO:Lexical, OMIM:616026]
synonym: "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young" EXACT [OMIM:616026, OMIM:genemap2]
synonym: "Fanconi syndrome caused by mutation in HNF4A" EXACT [MONDO:design_pattern]
synonym: "FRTS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616026]
synonym: "FRTS4 with MODY" RELATED [OMIM:616026]
synonym: "HNF4A Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080760 {source="MONDO:equivalentTo"}
xref: GARD:16048 {source="MONDO:GARD"}
xref: MEDGEN:863399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616026 {source="MONDO:equivalentTo"}
xref: Orphanet:93111 {source="OMIM:616026"}
xref: UMLS:C4014962 {source="MEDGEN:863399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100238 {source="DC-OMIM:616026", source="MONDO:Redundant", source="OMIM:616026"} ! inherited Fanconi renotubular syndrome
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5024 ! HNF4A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5024 {source="MONDO:mim2gene_medgen"} ! HNF4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014459
name: Adams-Oliver syndrome 5
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Adams-Oliver syndrome 5" EXACT [MONDO:Lexical, OMIM:616028]
synonym: "Adams-Oliver syndrome caused by mutation in NOTCH1" EXACT []
synonym: "Adams-Oliver syndrome caused by mutation in Notch1" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 5" EXACT [MONDORULE:1, OMIM:616028]
synonym: "AOS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616028]
synonym: "NOTCH1 Adams-Oliver syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Notch1 Adams-Oliver syndrome" EXACT [MONDO:design_pattern]
xref: GARD:16049 {source="MONDO:GARD"}
xref: MEDGEN:863407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616028 {source="MONDO:equivalentTo"}
xref: Orphanet:974 {source="OMIM:616028"}
xref: UMLS:C4014970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863407"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616028", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0007034 ! Adams-Oliver syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 ! NOTCH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 {source="MONDO:mim2gene_medgen"} ! NOTCH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014460
name: nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
def: "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed." [Orphanet:423454]
subset: gard_rare {source="GARD:17703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423454"}
subset: orphanet_rare {source="Orphanet:423454"}
subset: rare
synonym: "ECTDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616029]
synonym: "ectodermal dysplasia-short stature syndrome" EXACT [Orphanet:423454]
synonym: "ectodermal dysplasia/short stature syndrome" RELATED [MONDO:Lexical, OMIM:616029]
synonym: "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" EXACT [Orphanet:423454]
xref: GARD:17703 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:423454", source="Orphanet:423454/attributed", source="Orphanet:423454/ntbt"}
xref: MEDGEN:863424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616029 {source="Orphanet:423454", source="MONDO:equivalentTo", source="Orphanet:423454/e"}
xref: Orphanet:423454 {source="OMIM:616029", source="MONDO:equivalentTo"}
xref: UMLS:C4014987 {source="MONDO:equivalentTo", source="MEDGEN:863424", source="MONDO:MEDGEN"}
is_a: MONDO:0017672 {source="MONDO:0020097-obsoleted"} ! focal palmoplantar keratoderma
is_a: MONDO:0019287 {source="Orphanet:423454"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019289 {source="Orphanet:423454"} ! hyperpigmentation of the skin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2799 {source="MONDO:mim2gene_medgen"} ! GRHL2

[Term]
id: MONDO:0014461
name: hypogonadotropic hypogonadism 22 with or without anosmia
def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FEZF1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HH22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616030]
synonym: "hypogonadotropic hypogonadism 22 with or without anosmia" EXACT [MONDO:Lexical, OMIM:616030]
synonym: "hypogonadotropic hypogonadism 22, with or without anosmia" EXACT [OMIM:616030, OMIM:genemap2]
synonym: "hypogonadotropic hypogonadism caused by mutation in FEZF1" EXACT [MONDO:design_pattern]
xref: DOID:0090081 {source="MONDO:equivalentTo"}
xref: GARD:16050 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090081"}
xref: MEDGEN:863425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616030 {source="MONDO:equivalentTo", source="DOID:0090081"}
xref: Orphanet:478 {source="OMIM:616030"}
xref: UMLS:C4014988 {source="MEDGEN:863425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="DOID:0090081", source="MONDO:Redundant", source="OMIM:616030"} ! hypogonadotropic hypogonadism
is_a: MONDO:0018800 {source="Orphanet:478/btnt"} ! Kallmann syndrome
intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22788 ! FEZF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22788 {source="MONDO:mim2gene_medgen"} ! FEZF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014462
name: focal segmental glomerulosclerosis 8
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ANLN focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 8" EXACT [MONDO:Lexical, OMIM:616032]
synonym: "focal segmental glomerulosclerosis caused by mutation in ANLN" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 8" EXACT [DOID:0111133, MONDORULE:1, OMIM:616032]
synonym: "FSGS8" EXACT ABBREVIATION [DOID:0111133, MONDO:Lexical, OMIM:616032]
synonym: "glomerulosclerosis, focal segmental, 8" RELATED [OMIM:616032]
xref: DOID:0111133 {source="MONDO:equivalentTo"}
xref: GARD:16051 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="DOID:0111133"}
xref: MEDGEN:863430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616032 {source="MONDO:equivalentTo", source="DOID:0111133"}
xref: UMLS:C4014993 {source="MEDGEN:863430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005363 {source="DC-OMIM:616032", source="DOID:0111133", source="MONDO:Redundant", source="OMIM:616032"} ! inherited focal segmental glomerulosclerosis
intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14082 ! ANLN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14082 {source="MONDO:mim2gene_medgen"} ! ANLN

[Term]
id: MONDO:0014463
name: obsolete microcephaly, short stature, and impaired glucose metabolism
is_obsolete: true
replaced_by: MONDO:0000208

[Term]
id: MONDO:0014464
name: progressive encephalopathy with leukodystrophy due to DECR deficiency
def: "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." [Orphanet:431361]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10327", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431361"}
subset: orphanet_rare {source="Orphanet:431361"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2,4-alpha dienoyl-CoA reductase deficiency" RELATED [GARD:0010327]
synonym: "2,4-dienoyl-CoA reductase deficiency" EXACT [MONDO:Lexical, OMIM:616034, Orphanet:431361]
synonym: "DECR deficiency with hyperlysinemia" EXACT [Orphanet:431361]
synonym: "DECRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616034]
synonym: "dienoyl-CoA reductase deficiency" RELATED [GARD:0010327]
synonym: "progressive encephalopathy with leukodystrophy due to DECR deficiency" EXACT CLINGEN_LABEL []
xref: GARD:10327 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:431361/attributed", source="Orphanet:431361/ntbt", source="Orphanet:431361"}
xref: MEDGEN:346552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565624 {source="MONDO:equivalentTo"}
xref: OMIM:616034 {source="Orphanet:431361/e", source="MONDO:equivalentTo", source="Orphanet:431361"}
xref: Orphanet:431361 {source="MONDO:equivalentTo", source="OMIM:616034"}
xref: UMLS:C1857252 {source="MEDGEN:346552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0019046 {source="Orphanet:431361"} ! leukodystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26404 {source="MONDO:mim2gene_medgen"} ! NADK2

[Term]
id: MONDO:0014465
name: primary ciliary dyskinesia 30
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16052", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CCDC151 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CILD30" EXACT ABBREVIATION [DOID:0110624, MONDO:Lexical, OMIM:616037]
synonym: "ciliary dyskinesia, primary, 30" RELATED [MONDO:Lexical, OMIM:616037]
synonym: "ciliary dyskinesia, primary, 30, with or without situs inversus" RELATED [OMIM:616037]
synonym: "ciliary dyskinesia, primary, type 30" EXACT [MONDORULE:2, OMIM:616037]
synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT [DOID:0110624]
synonym: "primary ciliary dyskinesia caused by mutation in CCDC151" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 30" EXACT [DOID:0110624, MONDORULE:2]
xref: DOID:0110624 {source="MONDO:equivalentTo"}
xref: GARD:16052 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110624"}
xref: MEDGEN:863453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616037 {source="DOID:0110624", source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:616037"}
xref: UMLS:C4015016 {source="MEDGEN:863453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:616037", source="DOID:0110624", source="MONDO:Redundant", source="OMIM:616037"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28303 ! ODAD3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28303 {source="MONDO:mim2gene_medgen"} ! ODAD3

[Term]
id: MONDO:0014466
name: Neu-Laxova syndrome 2
def: "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:583602"}
subset: rare
synonym: "NEU-Laxova syndrome 2" RELATED [OMIM:616038]
synonym: "Neu-Laxova syndrome 2" EXACT [MONDO:Lexical, OMIM:616038]
synonym: "Neu-Laxova syndrome caused by mutation in PSAT1" EXACT [MONDO:design_pattern]
synonym: "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency" EXACT [Orphanet:583602]
synonym: "Neu-Laxova syndrome type 2" EXACT [DOID:0080075, MONDORULE:1, OMIM:616038]
synonym: "NLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616038]
synonym: "phosphoserine aminotransferase deficiency, prenatal form" EXACT [Orphanet:583602]
synonym: "PSAT1 Neu-Laxova syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080075 {source="MONDO:equivalentTo"}
xref: GARD:22335 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:583602"}
xref: MEDGEN:863456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616038 {source="DOID:0080075", source="MONDO:equivalentTo"}
xref: Orphanet:2671 {source="OMIM:616038"}
xref: Orphanet:583602 {source="MONDO:equivalentTo"}
xref: UMLS:C4015019 {source="MEDGEN:863456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000179 {source="MONDO:DC", source="MONDO:Redundant", source="OMIM:616038"} ! Neu-Laxova syndrome
intersection_of: MONDO:0000179 ! Neu-Laxova syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19129 ! PSAT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19129 {source="MONDO:mim2gene_medgen"} ! PSAT1

[Term]
id: MONDO:0014467
name: Charcot-Marie-Tooth disease recessive intermediate D
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435998"}
subset: orphanet_rare {source="Orphanet:435998"}
subset: rare
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110203]
synonym: "Charcot-Marie-Tooth disease caused by mutation in COX6A1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease recessive intermediate type D" EXACT [DOID:0110203, MONDORULE:1]
synonym: "Charcot-Marie-Tooth disease, recessive intermediate D" RELATED [MONDO:Lexical, OMIM:616039]
synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type D" EXACT [MONDORULE:1, OMIM:616039]
synonym: "CMTRID" EXACT ABBREVIATION [DOID:0110203, MONDO:Lexical, OMIM:616039]
synonym: "COX6A1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RI-CMT type D" EXACT [DOID:0110203, Orphanet:435998]
xref: DOID:0110203 {source="MONDO:equivalentTo"}
xref: GARD:17723 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:435998/attributed", source="Orphanet:435998/ntbt", source="DOID:0110203", source="Orphanet:435998"}
xref: MEDGEN:1800450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616039 {source="DOID:0110203", source="Orphanet:435998", source="MONDO:equivalentTo", source="Orphanet:435998/e"}
xref: Orphanet:435998 {source="DOID:0110203", source="MONDO:equivalentTo"}
xref: UMLS:C5569027 {source="MEDGEN:1800450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110203/inferred", source="MONDO:Redundant", source="OMIM:616039", source="Orphanet:435998/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0017058 {source="Orphanet:435998"} ! autosomal recessive intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2277 ! COX6A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2277 {source="MONDO:mim2gene_medgen"} ! COX6A1

[Term]
id: MONDO:0014468
name: congenital myasthenic syndrome 7
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS7" EXACT ABBREVIATION [DOID:0110659, MONDO:Lexical, OMIM:616040]
synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT [DOID:0110659]
synonym: "congenital myasthenic syndrome caused by mutation in SYT2" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 7" EXACT [DOID:0110659, MONDORULE:1]
synonym: "myasthenic syndrome, congenital, 7, presynaptic" RELATED [MONDO:Lexical, OMIM:616040]
synonym: "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant" EXACT [OMIM:616040, OMIM:genemap2]
synonym: "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy" RELATED [OMIM:616040]
synonym: "SYT2 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110659 {source="MONDO:equivalentTo"}
xref: GARD:16053 {source="MONDO:GARD"}
xref: MEDGEN:863475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616040 {source="DOID:0110659", source="MONDO:equivalentTo"}
xref: UMLS:C4015038 {source="MEDGEN:863475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110659", source="MONDO:Redundant", source="OMIM:616040"} ! congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11510 ! SYT2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11510 {source="MONDO:mim2gene_medgen"} ! SYT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014469
name: autosomal recessive nonsyndromic hearing loss 103
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 103" NARROW [DOID:0110464]
synonym: "autosomal recessive nonsyndromic deafness 103" NARROW [OMIM:616042]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLIC5" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 103" NARROW [DOID:0110464, MONDORULE:2]
synonym: "CLIC5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal recessive 103" NARROW [MONDO:Lexical, OMIM:616042, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 103" NARROW [MONDORULE:2, OMIM:616042]
synonym: "DFNB103" NARROW ABBREVIATION [DOID:0110464, MONDO:Lexical, OMIM:616042]
xref: DOID:0110464 {source="MONDO:equivalentTo"}
xref: GARD:22653 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110464"}
xref: MEDGEN:863487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616042 {source="MONDO:equivalentTo", source="DOID:0110464"}
xref: UMLS:C4015050 {source="MEDGEN:863487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:616042", source="DOID:0110464", source="MONDO:Redundant", source="OMIM:616042"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13517 ! CLIC5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13517 {source="MONDO:mim2gene_medgen"} ! CLIC5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014470
name: autosomal dominant nonsyndromic hearing loss 65
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant deafness 65" NARROW [DOID:0110586]
synonym: "autosomal dominant nonsyndromic deafness 65" NARROW [OMIM:616044]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 65" NARROW [DOID:0110586, MONDORULE:2]
synonym: "deafness, autosomal dominant 65" NARROW [MONDO:Lexical, OMIM:616044, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 65" NARROW [MONDORULE:2, OMIM:616044]
synonym: "DFNA65" NARROW ABBREVIATION [DOID:0110586, MONDO:Lexical, OMIM:616044]
synonym: "TBC1D24 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110586 {source="MONDO:equivalentTo"}
xref: GARD:18140 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110586"}
xref: MEDGEN:856147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616044 {source="MONDO:equivalentTo", source="DOID:0110586"}
xref: UMLS:C3892048 {source="MEDGEN:856147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:616044", source="DOID:0110586", source="MONDO:Redundant", source="OMIM:616044"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29203 ! TBC1D24
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29203 {source="MONDO:mim2gene_medgen"} ! TBC1D24
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014471
name: mitochondrial proton-transporting ATP synthase complex deficiency
def: "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)." [Orphanet:254913]
comment: Consider splitting out nuclear type for OMIMPS
subset: gard_rare {source="GARD:18649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254913"}
subset: orphanet_rare {source="Orphanet:254913"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated ATP synthase deficiency" NARROW [Orphanet:254913]
synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [Orphanet:254913]
synonym: "mitochondrial complex V (ATP synthase) deficiency" EXACT [DOID:0111143]
xref: DOID:0111143 {source="MONDO:equivalentTo"}
xref: GARD:18649 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:254913/attributed", source="Orphanet:254913/ntbt", source="Orphanet:254913"}
xref: icd11.foundation:902255625 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:254913"}
xref: MEDGEN:1655626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:604273 {source="MONDO:equivalentTo"}
xref: Orphanet:254913 {source="MONDO:equivalentTo", source="OMIM:616045"}
xref: UMLS:C4757950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1655626"}
is_a: MONDO:0000732 {source="DC-OMIM:616045", source="OMIM:616045"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0004069 {source="DOID:0111143", source="Orphanet:254913/inferred"} ! inborn mitochondrial metabolism disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005753 ! mitochondrial proton-transporting ATP synthase complex
relationship: excluded_subClassOf MONDO:0016805 {source="Orphanet:254913", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete isolated oxidative phosphorylation complex disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604273"} ! inherited

[Term]
id: MONDO:0014472
name: periodic fever-infantile enterocolitis-autoinflammatory syndrome
subset: gard_rare {source="GARD:17725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1939"}
subset: ordo_disorder {source="Orphanet:436166"}
subset: orphanet_rare {source="Orphanet:436166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIFEC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616050]
synonym: "AUTOINFLAMMATION with infantile enterocolitis" RELATED [MONDO:Lexical, OMIM:616050]
synonym: "Autoinflammation with Infantile Enterocolitis" EXACT [NORD:1939]
synonym: "autoinflammation with infantile enterocolitis" EXACT [Orphanet:436166]
synonym: "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome" EXACT [Orphanet:436166]
synonym: "NLRC4-related autoinflammatory syndrome with MAS" EXACT [Orphanet:436166]
synonym: "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" EXACT [Orphanet:436166]
synonym: "NLRC4-related macrophage activation syndrome" EXACT [Orphanet:436166]
synonym: "NLRC4-related MAS" EXACT [Orphanet:436166]
xref: GARD:17725 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:436166/attributed", source="Orphanet:436166/ntbt", source="Orphanet:436166"}
xref: MEDGEN:863504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200994 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200459 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1939 {source="MONDO:NORD"}
xref: OMIM:616050 {source="Orphanet:436166/e", source="MONDO:equivalentTo", source="Orphanet:436166"}
xref: Orphanet:436166 {source="MONDO:equivalentTo"}
xref: UMLS:C4015067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863504"}
is_a: MONDO:0017953 {source="Orphanet:436166"} ! hereditary periodic fever syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16412 {source="MONDO:mim2gene_medgen"} ! NLRC4

[Term]
id: MONDO:0014473
name: microcephaly 13, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in CENPE" EXACT [MONDO:design_pattern]
synonym: "CENPE autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616051]
synonym: "microcephaly 13, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616051]
xref: DOID:0070283 {source="MONDO:equivalentTo"}
xref: GARD:16054 {source="MONDO:GARD"}
xref: MEDGEN:863517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616051 {source="MONDO:equivalentTo"}
xref: Orphanet:808 {source="OMIM:616051"}
xref: UMLS:C4015080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863517"}
is_a: MONDO:0016660 {source="DC-OMIM:616051", source="MONDO:Redundant", source="OMIM:616051"} ! autosomal recessive primary microcephaly
is_a: MONDO:0019342 ! Seckel syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1856 ! CENPE
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616051"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1856 {source="MONDO:mim2gene_medgen"} ! CENPE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014474
name: autosomal recessive limb-girdle muscular dystrophy type 2U
def: "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352479"}
subset: orphanet_rare {source="Orphanet:352479"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [DOID:0110295, Orphanet:352479]
synonym: "ISPD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2U" EXACT ABBREVIATION [DOID:0110295, Orphanet:352479]
synonym: "MDDGC7" EXACT ABBREVIATION [DOID:0110295, MONDO:Lexical, OMIM:616052]
synonym: "muscular dystrophy limb-girdle type 2U" EXACT [DOID:0110295]
synonym: "muscular dystrophy, limb-girdle, type 2U" RELATED [OMIM:616052]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [DOID:0110295]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" RELATED [MONDO:Lexical, OMIM:616052]
xref: DOID:0110295 {source="MONDO:equivalentTo"}
xref: GARD:17519 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:0110295", source="Orphanet:352479", source="Orphanet:352479/attributed", source="Orphanet:352479/ntbt"}
xref: MEDGEN:1683417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616052 {source="MONDO:equivalentTo", source="DOID:0110295", source="Orphanet:352479", source="Orphanet:352479/e"}
xref: Orphanet:352479 {source="MONDO:equivalentTo", source="DOID:0110295", source="OMIM:616052"}
xref: UMLS:C5190987 {source="MEDGEN:1683417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000173 {source="DC-OMIM:616052", source="OMIM:616052"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="DOID:0110295", source="MONDO:Redundant", source="OMIM:616052", source="Orphanet:352479"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016155 {source="Orphanet:352479"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 ! CRPPA
relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 {source="MONDO:mim2gene_medgen"} ! CRPPA

[Term]
id: MONDO:0014475
name: spinocerebellar ataxia type 40
def: "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis." [Orphanet:423275]
subset: gard_rare {source="GARD:12371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423275"}
subset: orphanet_rare {source="Orphanet:423275"}
subset: rare
synonym: "SCA40" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616053, Orphanet:423275]
synonym: "spinocerebellar ataxia 40" RELATED [MONDO:Lexical, OMIM:616053]
synonym: "spinocerebellar ataxia type 40" EXACT [MONDORULE:2, OMIM:616053]
xref: DOID:0050986 {source="MONDO:equivalentTo"}
xref: GARD:12371 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:423275/attributed", source="Orphanet:423275/ntbt", source="Orphanet:423275"}
xref: MEDGEN:1385103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616053 {source="Orphanet:423275/e", source="DOID:0050986", source="MONDO:equivalentTo", source="Orphanet:423275"}
xref: Orphanet:423275 {source="MONDO:equivalentTo", source="OMIM:616053"}
xref: SCTID:734020000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385103"}
is_a: MONDO:0019792 {source="EFO:0009057", source="Orphanet:423275"} ! autosomal dominant cerebellar ataxia type I
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19967 {source="MONDO:mim2gene_medgen"} ! CCDC88C

[Term]
id: MONDO:0014476
name: episodic ataxia type 8
subset: gard_rare {source="GARD:17665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401953"}
subset: orphanet_rare {source="Orphanet:401953"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616055]
synonym: "episodic ataxia type 8" EXACT [Orphanet:401953]
synonym: "episodic ataxia with slurred speech" RELATED [Orphanet:401953]
synonym: "episodic ataxia, type 8" RELATED [MONDO:Lexical, OMIM:616055]
xref: DOID:0050996 {source="MONDO:equivalentTo"}
xref: GARD:17665 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:401953/attributed", source="Orphanet:401953/ntbt", source="Orphanet:401953"}
xref: MEDGEN:863545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616055 {source="Orphanet:401953", source="MONDO:equivalentTo", source="DOID:0050996", source="Orphanet:401953/e"}
xref: Orphanet:401953 {source="MONDO:equivalentTo", source="OMIM:616055"}
xref: UMLS:C4015108 {source="MONDO:equivalentTo", source="MEDGEN:863545", source="MONDO:MEDGEN"}
is_a: MONDO:0016227 {source="DOID:0050996", source="Orphanet:401953"} ! hereditary episodic ataxia

[Term]
id: MONDO:0014477
name: developmental and epileptic encephalopathy, 26
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE26" EXACT ABBREVIATION [OMIM:616056]
synonym: "developmental and epileptic encephalopathy 26" EXACT [OMIM:616056, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy 26" EXACT [GARD:0012391]
synonym: "early infantile epileptic encephalopathy caused by mutation in KCNB1" EXACT [MONDO:design_pattern]
synonym: "EIEE26" EXACT ABBREVIATION [GARD:0012391, MONDO:Lexical, OMIM:616056]
synonym: "epileptic encephalopathy, early infantile, 26" EXACT [MONDO:Lexical, OMIM:616056]
synonym: "epileptic encephalopathy, early infantile, type 26" EXACT [MONDORULE:2, OMIM:616056]
synonym: "KCNB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080461 {source="MONDO:equivalentTo"}
xref: GARD:12391 {source="MONDO:GARD"}
xref: MEDGEN:863556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616056 {source="MONDO:equivalentTo"}
xref: UMLS:C4015119 {source="MONDO:equivalentTo", source="MEDGEN:863556", source="MONDO:MEDGEN"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:616056", source="MONDO:Redundant", source="OMIM:616056"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6231 ! KCNB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6231 {source="MONDO:mim2gene_medgen"} ! KCNB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26" xsd:anyURI {source="GARD:0012391"}

[Term]
id: MONDO:0014478
name: mirror movements 3
def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DNAL4 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "familial congenital mirror movements caused by mutation in DNAL4" EXACT [MONDO:design_pattern]
synonym: "mirror movements 3" EXACT [MONDO:Lexical, OMIM:616059]
synonym: "mirror movements type 3" EXACT [MONDORULE:1, OMIM:616059]
synonym: "MRMV3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616059]
xref: GARD:16055 {source="MONDO:GARD"}
xref: MEDGEN:863561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616059 {source="MONDO:equivalentTo"}
xref: Orphanet:238722 {source="OMIM:616059"}
xref: UMLS:C4015124 {source="MEDGEN:863561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016558 {source="DC-OMIM:616059", source="MONDO:Redundant", source="OMIM:616059", source="Orphanet:238722/btnt"} ! familial congenital mirror movements
intersection_of: MONDO:0016558 ! familial congenital mirror movements
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2955 ! DNAL4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2955 {source="MONDO:mim2gene_medgen"} ! DNAL4

[Term]
id: MONDO:0014479
name: porokeratosis 8, disseminated superficial actinic type
subset: gard_rare {source="GARD:16056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POROK8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616063]
synonym: "porokeratosis 8, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:616063]
xref: GARD:16056 {source="MONDO:GARD"}
xref: MEDGEN:863565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616063 {source="MONDO:equivalentTo"}
xref: Orphanet:79152 {source="OMIM:616063"}
xref: UMLS:C4015128 {source="MEDGEN:863565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:616063"} ! porokeratosis
is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16192 {source="MONDO:mim2gene_medgen"} ! SLC17A9

[Term]
id: MONDO:0014480
name: 46,XY sex reversal 9
subset: gard_rare {source="GARD:18361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XY SEX reversal 9" RELATED [OMIM:616067]
synonym: "46,XY sex reversal 9" EXACT [MONDO:Lexical, OMIM:616067]
synonym: "46,XY Sex reversal type 9" EXACT [MONDORULE:1, OMIM:616067]
synonym: "46,XY Sex reversal, Zfpm2-related" RELATED [OMIM:616067]
synonym: "46XY sex reversal 9" EXACT [OMIM:616067, OMIM:genemap2]
synonym: "SRXY9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616067]
xref: DOID:0111770 {source="MONDO:equivalentTo"}
xref: GARD:18361 {source="MONDO:GARD"}
xref: MEDGEN:863566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616067 {source="MONDO:equivalentTo"}
xref: Orphanet:251510 {source="OMIM:616067"}
xref: UMLS:C4015129 {source="MEDGEN:863566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010765 {source="DC-OMIM:616067", source="OMIM:616067"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16700 {source="MONDO:mim2gene_medgen"} ! ZFPM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014481
name: inflammatory skin and bowel disease, neonatal, 2
def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18430", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EGFR neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "inflammatory skin and bowel disease, neonatal, 2" EXACT [MONDO:Lexical, OMIM:616069]
synonym: "inflammatory skin and bowel disease, neonatal, type 2" EXACT [MONDORULE:1, OMIM:616069]
synonym: "neonatal inflammatory skin and bowel disease caused by mutation in EGFR" EXACT [MONDO:design_pattern]
synonym: "NISBD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616069]
xref: GARD:18430 {source="MONDO:GARD"}
xref: MEDGEN:863567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616069 {source="MONDO:equivalentTo"}
xref: Orphanet:294023 {source="OMIM:616069"}
xref: UMLS:C4015130 {source="MONDO:equivalentTo", source="MEDGEN:863567", source="MONDO:MEDGEN"}
is_a: MONDO:0017411 {source="DC-OMIM:616069", source="MONDO:Redundant", source="OMIM:616069", source="Orphanet:294023/btnt"} ! neonatal inflammatory skin and bowel disease
intersection_of: MONDO:0017411 ! neonatal inflammatory skin and bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3236 ! EGFR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3236 {source="MONDO:mim2gene_medgen"} ! EGFR

[Term]
id: MONDO:0014482
name: intellectual disability, autosomal dominant 29
def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13379", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1958", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 29" EXACT [DOID:0070059, GARD:0013379]
synonym: "autosomal dominant mental retardation 29" EXACT DEPRECATED [DOID:0070059, GARD:0013379]
synonym: "autosomal dominant non-syndromic intellectual disability 29" RELATED [DOID:0070059]
synonym: "intellectual disability, autosomal dominant 29" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616078]
synonym: "intellectual disability, autosomal dominant type 29" EXACT [MONDORULE:2, OMIM:616078]
synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal dominant 29" RELATED DEPRECATED [MONDO:Lexical, OMIM:616078]
synonym: "mental retardation, autosomal dominant type 29" EXACT DEPRECATED [MONDORULE:2, OMIM:616078]
synonym: "MRD29" EXACT ABBREVIATION [DOID:0070059, MONDO:Lexical, OMIM:616078]
synonym: "SETBP1 disorder" RELATED [GARD:0013379]
synonym: "SETBP1 Haploinsufficiency Disorder" EXACT [NORD:1958]
synonym: "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SETBP1 related developmental delay" RELATED [GARD:0013379]
synonym: "SETBP1-related disorder" RELATED [GARD:0013379]
synonym: "SETBP1-related intellectual disability" RELATED [GARD:0013379]
xref: DOID:0070059 {source="MONDO:equivalentTo"}
xref: GARD:13379 {source="MONDO:GARD"}
xref: MEDGEN:863578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1958 {source="MONDO:NORD"}
xref: OMIM:616078 {source="GARD:0013379", source="MONDO:equivalentTo", source="DOID:0070059"}
xref: Orphanet:436151 {source="GARD:0013379"}
xref: UMLS:C4015141 {source="MONDO:equivalentTo", source="MEDGEN:863578", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070059", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15573 {source="MONDO:mim2gene_medgen"} ! SETBP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014483
name: retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
subset: gard_rare {source="GARD:17640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397758"}
subset: orphanet_rare {source="Orphanet:397758"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RDGCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616079]
synonym: "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" EXACT [Orphanet:397758]
synonym: "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" RELATED [MONDO:Lexical, OMIM:616079]
xref: GARD:17640 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:397758", source="Orphanet:397758/attributed", source="Orphanet:397758/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:863583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616079 {source="Orphanet:397758/e", source="MONDO:equivalentTo", source="Orphanet:397758"}
xref: Orphanet:397758 {source="MONDO:equivalentTo", source="OMIM:616079"}
xref: UMLS:C4015146 {source="MEDGEN:863583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="Orphanet:397758"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6174 {source="MONDO:mim2gene_medgen"} ! ITM2B

[Term]
id: MONDO:0014484
name: microcephaly 12, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in CDK6" EXACT [MONDO:design_pattern]
synonym: "CDK6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MCPH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616080]
synonym: "microcephaly 12, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616080]
xref: DOID:0070284 {source="MONDO:equivalentTo"}
xref: GARD:16057 {source="MONDO:GARD"}
xref: MEDGEN:863593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616080 {source="MONDO:equivalentTo"}
xref: UMLS:C4015156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863593"}
is_a: MONDO:0016660 {source="DC-OMIM:616080", source="MONDO:Redundant", source="OMIM:616080"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1777 ! CDK6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1777 {source="MONDO:mim2gene_medgen"} ! CDK6

[Term]
id: MONDO:0014485
name: pontocerebellar hypoplasia, type 1C
def: "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EXOSC8 pontocerebellar hypoplasia type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia" RELATED [OMIM:616081]
synonym: "PCH1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616081]
synonym: "pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8" EXACT [MONDO:design_pattern]
synonym: "pontocerebellar hypoplasia, type 1C" EXACT [MONDO:Lexical, OMIM:616081]
xref: DOID:0112334 {source="MONDO:equivalentTo"}
xref: GARD:16058 {source="MONDO:GARD"}
xref: MEDGEN:863597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616081 {source="MONDO:equivalentTo"}
xref: Orphanet:2254 {source="OMIM:616081"}
xref: UMLS:C4015160 {source="MEDGEN:863597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016396 {source="MONDO:Redundant", source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1
intersection_of: MONDO:0016396 ! pontocerebellar hypoplasia type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17035 ! EXOSC8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17035 {source="MONDO:mim2gene_medgen"} ! EXOSC8

[Term]
id: MONDO:0014486
name: intellectual disability, autosomal dominant 30
def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13136", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 30" EXACT [DOID:0070060, GARD:0013136]
synonym: "autosomal dominant mental retardation 30" EXACT DEPRECATED [DOID:0070060]
synonym: "autosomal dominant non-syndromic intellectual disability 30" RELATED [DOID:0070060]
synonym: "intellectual disability, autosomal dominant 30" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616083]
synonym: "intellectual disability, autosomal dominant type 30" EXACT [MONDORULE:2, OMIM:616083]
synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11" EXACT [MONDO:design_pattern]
synonym: "mental retardation, autosomal dominant 30" RELATED DEPRECATED [MONDO:Lexical, OMIM:616083]
synonym: "mental retardation, autosomal dominant type 30" EXACT DEPRECATED [MONDORULE:2, OMIM:616083]
synonym: "MRD30" EXACT ABBREVIATION [DOID:0070060, MONDO:Lexical, OMIM:616083]
synonym: "ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070060 {source="MONDO:equivalentTo"}
xref: GARD:13136 {source="MONDO:GARD"}
xref: MEDGEN:863604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616083 {source="MONDO:equivalentTo", source="DOID:0070060"}
xref: UMLS:C4015167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863604"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0014482 {source="DOID:0070060", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability, autosomal dominant 29
relationship: excluded_subClassOf MONDO:0015802 {source="OMIM:616083", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16966 {source="MONDO:mim2gene_medgen"} ! ZMYND11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014487
name: congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
def: "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." [Orphanet:369861]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369861"}
subset: orphanet_rare {source="Orphanet:369861"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED OMO:0003005 []
synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED [MONDO:Lexical, OMIM:616084]
synonym: "SIFD" EXACT ABBREVIATION [DOID:0080209, MONDO:Lexical, OMIM:616084]
synonym: "SIFD syndrome" EXACT [Orphanet:369861]
xref: DOID:0080209 {source="MONDO:equivalentTo"}
xref: GARD:17586 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:369861/attributed", source="Orphanet:369861/ntbt", source="Orphanet:369861"}
xref: MEDGEN:863609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616084 {source="Orphanet:369861/e", source="MONDO:equivalentTo", source="Orphanet:369861", source="DOID:0080209"}
xref: Orphanet:369861 {source="MONDO:equivalentTo", source="OMIM:616084"}
xref: UMLS:C4015172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863609"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0015194 {source="DOID:0080209", source="Orphanet:369861/inferred"} ! sideroblastic anemia
is_a: MONDO:0020099 {source="Orphanet:369861"} ! inherited sideroblastic anemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17341 {source="MONDO:mim2gene_medgen"} ! TRNT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0014488
name: diabetes mellitus, noninsulin-dependent, 5
def: "Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diabetes mellitus, noninsulin-dependent, 5" EXACT [MONDO:Lexical, OMIM:616087]
synonym: "diabetes mellitus, noninsulin-dependent, type 5" EXACT [MONDORULE:1, OMIM:616087]
synonym: "NIDDM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616087]
synonym: "TBC1D4 type 2 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "type 2 diabetes mellitus caused by mutation in TBC1D4" EXACT [MONDO:design_pattern]
xref: MEDGEN:863620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616087 {source="MONDO:equivalentTo"}
xref: UMLS:C4015183 {source="MEDGEN:863620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005148 {source="DC-OMIM:616087", source="MONDO:Redundant"} ! type 2 diabetes mellitus
intersection_of: MONDO:0005148 ! type 2 diabetes mellitus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19165 ! TBC1D4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19165 {source="MONDO:mim2gene_medgen"} ! TBC1D4

[Term]
id: MONDO:0014489
name: limb-girdle muscular dystrophy due to POMK deficiency
def: "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." [Orphanet:445110]
subset: gard_rare {source="GARD:17769", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:445110"}
subset: orphanet_rare {source="Orphanet:445110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LGMD due to POMK deficiency" EXACT [Orphanet:445110]
synonym: "MDDGC12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616094]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" RELATED [MONDO:Lexical, OMIM:616094]
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" RELATED [OMIM:616094]
xref: DOID:0112381 {source="MONDO:equivalentTo"}
xref: GARD:17769 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:445110/attributed", source="Orphanet:445110/ntbt", source="Orphanet:445110"}
xref: MEDGEN:863621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616094 {source="Orphanet:445110/e", source="MONDO:equivalentTo", source="Orphanet:445110"}
xref: Orphanet:445110 {source="MONDO:equivalentTo"}
xref: UMLS:C4015184 {source="MEDGEN:863621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000173 {source="DC-OMIM:616094", source="OMIM:616094"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="Orphanet:445110"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016155 {source="Orphanet:445110"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26267 {source="MONDO:mim2gene_medgen"} ! POMK

[Term]
id: MONDO:0014490
name: ketoacidosis due to monocarboxylate transporter-1 deficiency
subset: gard_rare {source="GARD:17733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438075"}
subset: orphanet_rare {source="Orphanet:438075"}
subset: rare
synonym: "MCT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616095]
synonym: "monocarboxylate transporter 1 deficiency" RELATED [MONDO:Lexical, OMIM:616095]
xref: GARD:17733 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:438075", source="Orphanet:438075/attributed", source="Orphanet:438075/ntbt"}
xref: MEDGEN:863623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616095 {source="MONDO:equivalentTo", source="Orphanet:438075", source="Orphanet:438075/e"}
xref: Orphanet:438075 {source="MONDO:equivalentTo"}
xref: UMLS:C4015186 {source="MEDGEN:863623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease
is_a: MONDO:0019223 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of fatty acid and ketone body metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10922 {source="MONDO:mim2gene_medgen"} ! SLC16A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014491
name: immunodeficiency 37
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene." [MONDO:patterns/disease_series_by_gene]
comment: BCL10 is definitively associated with combined immunodeficiency due to BCL10 deficiency. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time. See linked ticket for more details. This classification was approved by the ClinGen SCID/CID GCEP.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BCL10 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "combined immunodeficiency due to BCL10 deficiency" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-4455-3112]
synonym: "IMD37" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616098]
synonym: "immunodeficiency 37" EXACT [MONDO:Lexical, OMIM:616098]
synonym: "immunodeficiency type 37" EXACT [MONDORULE:2, OMIM:616098]
synonym: "primary immunodeficiency disease caused by mutation in BCL10" EXACT [MONDO:design_pattern]
xref: DOID:0111939 {source="MONDO:equivalentTo"}
xref: MEDGEN:863632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616098 {source="MONDO:equivalentTo"}
xref: UMLS:C4015195 {source="MEDGEN:863632", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DC-OMIM:616098", source="MONDO:Redundant"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0003778 ! inborn error of immunity
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 ! BCL10
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 {source="MONDO:mim2gene_medgen"} ! BCL10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6186" xsd:anyURI

[Term]
id: MONDO:0014492
name: wooly hair-palmoplantar keratoderma syndrome
def: "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent." [Orphanet:420686]
subset: gard_rare {source="GARD:17697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420686"}
subset: orphanet_rare {source="Orphanet:420686"}
subset: rare
synonym: "keratoderma with woolly hair type IV" EXACT OMO:0003005 []
synonym: "keratoderma with wooly hair type IV" EXACT [Orphanet:420686]
synonym: "KWWH type IV" EXACT [Orphanet:420686]
synonym: "palmoplantar keratoderma and woolly hair" RELATED OMO:0003005 []
synonym: "palmoplantar keratoderma and wooly hair" RELATED [MONDO:Lexical, OMIM:616099]
synonym: "PPKWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616099]
synonym: "woolly hair-palmoplantar hyperkeratosis syndrome" EXACT OMO:0003005 []
synonym: "wooly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:420686]
xref: GARD:17697 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:420686/attributed", source="Orphanet:420686/ntbt", source="Orphanet:420686"}
xref: MEDGEN:863639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616099 {source="Orphanet:420686", source="MONDO:equivalentTo", source="Orphanet:420686/e"}
xref: Orphanet:420686 {source="MONDO:equivalentTo", source="OMIM:616099"}
xref: SCTID:764108000 {source="MONDO:equivalentTo"}
xref: UMLS:C4015202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863639"}
is_a: MONDO:0017672 {source="MONDO:0020097-obsoleted"} ! focal palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29300 {source="MONDO:mim2gene_medgen"} ! KANK2

[Term]
id: MONDO:0014493
name: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
def: "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V." [NCIT:C126341]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12316", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436159"}
subset: orphanet_rare {source="Orphanet:436159"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALPS due to CTLA4 haploinsufficiency" EXACT [Orphanet:436159]
synonym: "ALPS type 5" EXACT [Orphanet:436159]
synonym: "ALPS type V" EXACT [Orphanet:436159]
synonym: "ALPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616100]
synonym: "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency" EXACT CLINGEN_LABEL []
synonym: "autoimmune lymphoproliferative syndrome type 5" EXACT [Orphanet:436159]
synonym: "autoimmune lymphoproliferative syndrome type V" EXACT [Orphanet:436159]
synonym: "autoimmune lymphoproliferative syndrome, type 5" RELATED [OMIM:616100]
synonym: "autoimmune lymphoproliferative syndrome, type V" RELATED [GARD:0012316, MONDO:Lexical, OMIM:616100]
synonym: "chai" EXACT [Orphanet:436159]
synonym: "CTLA-4 haploinsufficiency with autoimmune infiltration disease" EXACT [Orphanet:436159]
synonym: "CTLA4 haploinsufficiency" EXACT [NCIT:C126341]
synonym: "CTLA4 haploinsufficiency with autoimmune infiltration" RELATED [OMIM:616100]
synonym: "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" EXACT [OMIM:616100, OMIM:genemap2]
xref: GARD:12316 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="Orphanet:436159", source="Orphanet:436159/attributed", source="Orphanet:436159/ntbt"}
xref: MEDGEN:863651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126341 {source="MONDO:equivalentTo"}
xref: OMIM:616100 {source="Orphanet:436159", source="MONDO:equivalentTo", source="Orphanet:436159/e"}
xref: Orphanet:436159 {source="MONDO:equivalentTo"}
xref: UMLS:C4015214 {source="MEDGEN:863651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="NCIT:C126341"} ! autoimmune disease
is_a: MONDO:0017979 {source="DC-OMIM:616100"} ! autoimmune lymphoproliferative syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2505 {source="MONDO:mim2gene_medgen"} ! CTLA4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsufficiency" xsd:anyURI {source="GARD:0012316"}

[Term]
id: MONDO:0014494
name: psoriasis 15, pustular, susceptibility to
def: "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "AP1S3 generalised pustular psoriasis" EXACT OMO:0003005 []
synonym: "AP1S3 generalized pustular psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "generalised pustular psoriasis caused by mutation in AP1S3" EXACT OMO:0003005 []
synonym: "generalized pustular psoriasis caused by mutation in AP1S3" EXACT [MONDO:design_pattern]
synonym: "psoriasis 15, pustular, susceptibility to" EXACT [MONDO:Lexical, OMIM:616106]
synonym: "PSORS15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616106]
synonym: "susceptibility to pustular psoriasis 15" RELATED [OMIM:616106]
xref: DOID:0111281 {source="MONDO:equivalentTo"}
xref: MEDGEN:863672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616106 {source="MONDO:equivalentTo"}
xref: Orphanet:247353 {source="OMIM:616106"}
xref: UMLS:C4015235 {source="MEDGEN:863672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100171 {source="OMIM:616106"} ! psoriasis, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18971 ! AP1S3
intersection_of: predisposes_towards MONDO:0100491 ! generalized pustular psoriasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18971 {source="MONDO:mim2gene_medgen"} ! AP1S3

[Term]
id: MONDO:0014495
name: retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:17730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436245"}
subset: orphanet_rare {source="Orphanet:436245"}
subset: rare
synonym: "RDJCSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616108]
synonym: "retinal dystrophy, juvenile cataracts, and short stature syndrome" RELATED [MONDO:Lexical, OMIM:616108]
synonym: "retinal dystrophy-juvenile cataract-short stature syndrome" EXACT [Orphanet:436245]
xref: GARD:17730 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:436245/attributed", source="Orphanet:436245/btnt", source="Orphanet:436245"}
xref: MEDGEN:863679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616108 {source="Orphanet:436245/e", source="MONDO:equivalentTo", source="Orphanet:436245"}
xref: Orphanet:436245 {source="MONDO:equivalentTo"}
xref: UMLS:C4015242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863679"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:436245", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17964 {source="MONDO:mim2gene_medgen"} ! RDH11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014496
name: mitochondrial complex III deficiency nuclear type 9
def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16060", source="MONDO:GARD"}
subset: rare
synonym: "MC3DN9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616111]
synonym: "mitochondrial Complex 3 deficiency, nuclear type 9" RELATED [OMIM:616111]
synonym: "mitochondrial complex III deficiency caused by mutation in UQCC3" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex III deficiency, nuclear type 9" RELATED [MONDO:Lexical, OMIM:616111]
synonym: "UQCC3 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080118 {source="MONDO:equivalentTo"}
xref: GARD:16060 {source="MONDO:GARD"}
xref: MEDGEN:863690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616111 {source="MONDO:equivalentTo", source="DOID:0080118"}
xref: Orphanet:1460 {source="OMIM:616111"}
xref: UMLS:C4015253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863690"}
is_a: MONDO:0000066 {source="DC-OMIM:616111", source="MONDO:indirect"} ! mitochondrial complex deficiency
is_a: MONDO:0015448 {source="DOID:0080118", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency
is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type
intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34399 ! UQCC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34399 {source="MONDO:mim2gene_medgen"} ! UQCC3

[Term]
id: MONDO:0014497
name: polyendocrine-polyneuropathy syndrome
subset: gard_rare {source="GARD:17787", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:453533"}
subset: orphanet_rare {source="Orphanet:453533"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PEPNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616113]
synonym: "polyendocrine-polyneuropathy syndrome" EXACT [MONDO:Lexical, OMIM:616113]
xref: GARD:17787 {source="MONDO:GARD"}
xref: MEDGEN:863698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616113 {source="Orphanet:453533", source="MONDO:equivalentTo", source="Orphanet:453533/e"}
xref: Orphanet:453533 {source="MONDO:equivalentTo"}
xref: UMLS:C4015261 {source="MEDGEN:863698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:453533", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2938 {source="MONDO:mim2gene_medgen"} ! DMXL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014498
name: familial cold autoinflammatory syndrome 4
def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16061", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:576349"}
subset: orphanet_rare {source="Orphanet:576349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial cold autoinflammatory syndrome 4" EXACT [MONDO:Lexical, OMIM:616115]
synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRC4" EXACT [MONDO:design_pattern]
synonym: "familial cold autoinflammatory syndrome type 4" EXACT [DOID:0090065, MONDORULE:1, OMIM:616115]
synonym: "FCAS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616115]
synonym: "NLRC4 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NLRC4-related familial cold autoinflammatory syndrome" EXACT [Orphanet:576349]
xref: DOID:0090065 {source="MONDO:equivalentTo"}
xref: GARD:16061 {source="MONDO:GARD"}
xref: ICD10CM:L50.2 {source="DOID:0090065"}
xref: MEDGEN:863713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616115 {source="DOID:0090065", source="MONDO:equivalentTo"}
xref: Orphanet:47045 {source="DOID:0090065"}
xref: Orphanet:576349 {xref="MONDO:equivalentTo"}
xref: UMLS:C4015276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863713"}
is_a: MONDO:0017953 {source="Orphanet:576349"} ! hereditary periodic fever syndrome
is_a: MONDO:0018768 {source="DC-OMIM:616115", source="DOID:0090065", source="MONDO:Redundant", source="OMIM:616115"} ! familial cold autoinflammatory syndrome
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome
intersection_of: MONDO:0018768 ! familial cold autoinflammatory syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16412 ! NLRC4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16412 {source="MONDO:mim2gene_medgen"} ! NLRC4

[Term]
id: MONDO:0014499
name: intellectual disability, autosomal recessive 46
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal recessive 46" EXACT [MONDO:Lexical, OMIM:616116]
synonym: "intellectual disability, autosomal recessive type 46" EXACT [MONDORULE:2, OMIM:616116]
synonym: "mental retardation, autosomal recessive 46" RELATED DEPRECATED [MONDO:Lexical, OMIM:616116]
synonym: "mental retardation, autosomal recessive type 46" EXACT DEPRECATED [MONDORULE:2, OMIM:616116]
synonym: "MRT46" RELATED DEPRECATED [MONDO:Lexical, OMIM:616116]
synonym: "NDST1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081210 {source="MONDO:equivalentTo"}
xref: GARD:22568 {source="MONDO:GARD"}
xref: MEDGEN:863720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616116 {source="MONDO:equivalentTo"}
xref: UMLS:C4015283 {source="MEDGEN:863720", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:616116", source="MONDO:Redundant", source="OMIM:616116"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7680 ! NDST1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7680 {source="MONDO:mim2gene_medgen"} ! NDST1

[Term]
id: MONDO:0014500
name: atrial conduction disease
def: "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted." [EFO:0005304]
subset: gard_rare {source="GARD:17729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436242"}
subset: orphanet_rare {source="Orphanet:436242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CARDIAC conduction disease with or without dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:616117]
synonym: "CCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616117]
synonym: "familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" RELATED [Orphanet:436242]
xref: EFO:0005304 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17729 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="Orphanet:436242", source="Orphanet:436242/attributed", source="Orphanet:436242/ntbt"}
xref: MEDGEN:863722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616117 {source="Orphanet:436242/e", source="EFO:0005304", source="MONDO:equivalentTo", source="Orphanet:436242"}
xref: Orphanet:436242 {source="MONDO:equivalentTo"}
xref: UMLS:C4015285 {source="MEDGEN:863722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005449 {source="EFO:0005304"} ! conduction system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19661 {source="MONDO:mim2gene_medgen"} ! TNNI3K

[Term]
id: MONDO:0014501
name: macular degeneration, early-onset
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EOMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616118]
synonym: "macular degeneration, early-onset" EXACT [MONDO:Lexical, OMIM:616118]
xref: MEDGEN:863723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616118 {source="MONDO:equivalentTo"}
xref: UMLS:C4015286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863723"}
is_a: MONDO:0003004 {source="https://orcid.org/0000-0001-5208-3432"} ! macular degeneration
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3604 {source="MONDO:mim2gene_medgen"} ! FBN2

[Term]
id: MONDO:0014502
name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections." [Orphanet:319563]
comment: Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319563"}
subset: orphanet_rare {source="Orphanet:319563"}
subset: predisposition
subset: rare
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15" EXACT []
synonym: "IMD38" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616126]
synonym: "immunodeficiency 38" EXACT [OMIM:616126, OMIM:genemap2]
synonym: "immunodeficiency 38 with basal ganglia calcification" RELATED [MONDO:Lexical, OMIM:616126]
synonym: "immunodeficiency 38, Mycobacteriosis, autosomal recessive" RELATED [OMIM:616126]
synonym: "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ISG15 deficiency, autosomal recessive" RELATED [OMIM:616126]
synonym: "MSMD due to complete ISG15 deficiency" EXACT [Orphanet:319563]
xref: DOID:0111934 {source="MONDO:equivalentTo"}
xref: ICD10CM:D84.8 {source="Orphanet:319563", source="Orphanet:319563/attributed", source="Orphanet:319563/ntbt"}
xref: MEDGEN:863730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616126 {source="MONDO:equivalentTo", source="Orphanet:319563", source="Orphanet:319563/e"}
xref: Orphanet:319563 {source="OMIM:616126", source="MONDO:equivalentTo"}
xref: UMLS:C4015293 {source="MEDGEN:863730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
relationship: excluded_subClassOf MONDO:0018782 {source="Orphanet:319563", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete type 1 interferonopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4053 {source="MONDO:mim2gene_medgen"} ! ISG15
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014503
name: autosomal recessive spinocerebellar ataxia 17
def: "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17786", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:453521"}
subset: orphanet_rare {source="Orphanet:453521"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia due to CWF19L1 deficiency" RELATED [Orphanet:453521]
synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 17" EXACT [DOID:0080064, MONDORULE:2]
synonym: "CWF19L1 autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCAR17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616127, Orphanet:453521]
synonym: "spinocerebellar ataxia autosomal recessive type 17" EXACT [Orphanet:453521]
synonym: "spinocerebellar ataxia, autosomal recessive 17" RELATED [MONDO:Lexical, OMIM:616127]
synonym: "spinocerebellar ataxia, autosomal recessive type 17" EXACT [MONDORULE:2, OMIM:616127]
xref: DOID:0080064 {source="MONDO:equivalentTo"}
xref: GARD:17786 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:453521/attributed", source="Orphanet:453521/ntbt", source="Orphanet:453521"}
xref: MEDGEN:863738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616127 {source="DOID:0080064", source="Orphanet:453521", source="MONDO:equivalentTo", source="Orphanet:453521/e"}
xref: Orphanet:453521 {source="MONDO:equivalentTo"}
xref: UMLS:C4015301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863738"}
is_a: MONDO:0020043 {source="MONDO:Redundant", source="Orphanet:453521"} ! autosomal recessive congenital cerebellar ataxia
intersection_of: MONDO:0020043 ! autosomal recessive congenital cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25613 ! CWF19L1
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:453521", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25613 {source="MONDO:mim2gene_medgen"} ! CWF19L1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014504
name: Perrault syndrome 5
def: "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16062", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Perrault syndrome 5" EXACT [MONDO:Lexical, OMIM:616138]
synonym: "Perrault syndrome caused by mutation in TWNK" EXACT [MONDO:design_pattern]
synonym: "Perrault syndrome type 5" EXACT [MONDORULE:1, OMIM:616138]
synonym: "PRLTS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616138]
synonym: "TWNK Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16062 {source="MONDO:GARD"}
xref: MEDGEN:863744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616138 {source="MONDO:equivalentTo"}
xref: Orphanet:2855 {source="OMIM:616138"}
xref: UMLS:C4015307 {source="MEDGEN:863744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017312 {source="DC-OMIM:616138", source="MONDO:Redundant", source="OMIM:616138"} ! Perrault syndrome
intersection_of: MONDO:0017312 ! Perrault syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 ! TWNK
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616138"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1160 {source="MONDO:mim2gene_medgen"} ! TWNK

[Term]
id: MONDO:0014505
name: developmental and epileptic encephalopathy, 27
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16063", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE27" EXACT ABBREVIATION [OMIM:616139]
synonym: "developmental and epileptic encephalopathy 27" EXACT [OMIM:616139, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2B" EXACT [MONDO:design_pattern]
synonym: "EIEE27" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616139]
synonym: "epileptic encephalopathy, early infantile, 27" EXACT [MONDO:Lexical, OMIM:616139]
synonym: "epileptic encephalopathy, early infantile, type 27" EXACT [MONDORULE:2, OMIM:616139]
synonym: "GRIN2B early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080444 {source="MONDO:equivalentTo"}
xref: GARD:16063 {source="MONDO:GARD"}
xref: MEDGEN:863753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616139 {source="MONDO:equivalentTo"}
xref: Orphanet:3451 {source="OMIM:616139"}
xref: UMLS:C4015316 {source="MEDGEN:863753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome
is_a: MONDO:0100062 {source="DC-OMIM:616139", source="MONDO:Redundant", source="OMIM:616139"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 ! GRIN2B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 {source="MONDO:mim2gene_medgen"} ! GRIN2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014506
name: hypomyelinating leukodystrophy 9
def: "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438114"}
subset: orphanet_rare {source="Orphanet:438114"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLD9" EXACT ABBREVIATION [DOID:0060791, MONDO:Lexical, OMIM:616140]
synonym: "hypomyelinating leukodystrophy type 9" EXACT [DOID:0060791, MONDORULE:1]
synonym: "leukodystrophy caused by mutation in RARS" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 9" RELATED [MONDO:Lexical, OMIM:616140]
synonym: "leukodystrophy, hypomyelinating, type 9" EXACT [MONDORULE:1, OMIM:616140]
synonym: "RARS leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [DOID:0060791]
xref: DOID:0060791 {source="MONDO:equivalentTo"}
xref: GARD:17734 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="DOID:0060791", source="Orphanet:438114/attributed", source="Orphanet:438114/ntbt", source="Orphanet:438114"}
xref: MEDGEN:863760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616140 {source="DOID:0060791", source="Orphanet:438114/e", source="MONDO:equivalentTo", source="Orphanet:438114"}
xref: Orphanet:438114 {source="DOID:0060791", source="MONDO:equivalentTo"}
xref: UMLS:C4015323 {source="MEDGEN:863760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="DOID:0060791", source="DOID:0060791/inferred", source="MONDO:Redundant", source="OMIM:616140", source="Orphanet:438114"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9870 ! RARS1
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:438114", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9870 {source="MONDO:mim2gene_medgen"} ! RARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014507
name: Catel-Manzke syndrome
def: "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis." [Orphanet:1388]
subset: gard_rare {source="GARD:28", source="MONDO:GARD"}
subset: nord_rare {source="NORD:901", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1388"}
subset: ordo_malformation_syndrome {source="Orphanet:1388"}
subset: orphanet_rare {source="Orphanet:1388"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Catel Manzke Syndrome" EXACT [NORD:901]
synonym: "Catel Manzke syndrome" RELATED [GARD:0000028]
synonym: "Catel-Manzke syndrome" EXACT [MONDO:Lexical, OMIM:616145]
synonym: "CATMANS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616145]
synonym: "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT [Orphanet:1388]
synonym: "index finger anomaly with Pierre Robin syndrome" RELATED [OMIM:616145]
synonym: "index finger anomaly-Pierre Robin syndrome" EXACT [Orphanet:1388]
synonym: "micrognathia digital syndrome" EXACT [OMIM:616145, Orphanet:1388]
synonym: "Palatodigital syndrome Catel-Manzke type" RELATED [GARD:0000028]
synonym: "Palatodigital syndrome, Catel-Manzke type" EXACT [OMIM:616145, Orphanet:1388]
synonym: "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388]
synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" RELATED [OMIM:616145]
synonym: "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388]
xref: DOID:0081122 {source="MONDO:equivalentTo"}
xref: GARD:28 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1388/attributed", source="Orphanet:1388/ntbt", source="Orphanet:1388"}
xref: MEDGEN:375536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535347 {source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"}
xref: NORD:901 {source="MONDO:NORD"}
xref: OMIM:302380 {source="MONDO:equivalentObsolete", source="Orphanet:1388", source="Orphanet:1388/nd"}
xref: OMIM:616145 {source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"}
xref: Orphanet:1388 {source="MONDO:equivalentTo", source="OMIM:616145"}
xref: SCTID:722383001 {source="MONDO:equivalentTo"}
xref: UMLS:C1844887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375536"}
is_a: MONDO:0005381 {source="https://orcid.org/0000-0002-4142-7153"} ! bone disorder
is_a: MONDO:0015159 {source="Orphanet:1388"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1388", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20324 {source="MONDO:mim2gene_medgen"} ! TGDS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome" xsd:anyURI {source="GARD:0000028"}

[Term]
id: MONDO:0014508
name: vitelliform macular dystrophy 4
def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IMPG1 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular dystrophy, vitelliform, 4" EXACT [MONDO:Lexical, OMIM:616151]
synonym: "macular dystrophy, vitelliform, type 4" EXACT [MONDORULE:1, OMIM:616151]
synonym: "vitelliform macular dystrophy caused by mutation in IMPG1" EXACT [MONDO:design_pattern]
synonym: "VMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616151]
xref: GARD:16064 {source="MONDO:GARD"}
xref: MEDGEN:863779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616151 {source="MONDO:equivalentTo"}
xref: Orphanet:99000 {source="OMIM:616151"}
xref: UMLS:C4015342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863779"}
is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:616151"} ! vitelliform macular dystrophy
is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy
intersection_of: MONDO:0000390 ! vitelliform macular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6055 ! IMPG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6055 {source="MONDO:mim2gene_medgen"} ! IMPG1

[Term]
id: MONDO:0014509
name: vitelliform macular dystrophy 5
def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16065", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IMPG2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "macular dystrophy, vitelliform, 5" EXACT [MONDO:Lexical, OMIM:616152]
synonym: "macular dystrophy, vitelliform, type 5" EXACT [MONDORULE:1, OMIM:616152]
synonym: "vitelliform macular dystrophy caused by mutation in IMPG2" EXACT [MONDO:design_pattern]
synonym: "VMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616152]
xref: GARD:16065 {source="MONDO:GARD"}
xref: MEDGEN:863780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616152 {source="MONDO:equivalentTo"}
xref: Orphanet:99000 {source="OMIM:616152"}
xref: UMLS:C4015343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863780"}
is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:616152"} ! vitelliform macular dystrophy
is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy
is_a: MONDO:0700242 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2-related dominant retinopathy
intersection_of: MONDO:0000390 ! vitelliform macular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 ! IMPG2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="MONDO:mim2gene_medgen"} ! IMPG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0014510
name: fatty acyl-CoA reductase 1 deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438178"}
subset: orphanet_rare {source="Orphanet:438178"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FAR1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "fatty acyl-CoA reductase 1 deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "fatty acyl-CoA reductase 1 disorder" EXACT [Orphanet:438178]
synonym: "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency" EXACT [https://orcid.org/0000-0002-6733-369X]
synonym: "peroxisomal fatty acyl-CoA reductase 1 disorder" RELATED [MONDO:Lexical, OMIM:616154]
synonym: "PFCRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616154]
synonym: "rhizomelic chondrodysplasia punctata type 4" EXACT [https://www.clinicalgenome.org/affiliation/40049/, PMID:25439727, PMID:26220973]
synonym: "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/811, Orphanet:438178]
synonym: "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency" EXACT []
synonym: "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder" EXACT [Orphanet:438178]
xref: DOID:0081243 {source="MONDO:equivalentTo"}
xref: GARD:13319 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:438178", source="Orphanet:438178/attributed", source="Orphanet:438178/ntbt"}
xref: MEDGEN:863781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616154 {source="Orphanet:438178/e", source="MONDO:equivalentTo", source="Orphanet:438178"}
xref: Orphanet:438178 {source="MONDO:equivalentTo"}
xref: UMLS:C4015344 {source="MEDGEN:863781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata
is_a: MONDO:0100275 {source="Orphanet:438178", source="https://www.clinicalgenome.org/affiliation/40049/"} ! fatty acyl-CoA reductase defects
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:438178", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26222 {source="MONDO:mim2gene_medgen"} ! FAR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0014511
name: Charcot-Marie-Tooth disease axonal type 2S
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17751", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443073"}
subset: orphanet_rare {source="Orphanet:443073"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [DOID:0110171]
synonym: "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [DOID:0110171]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S" RELATED [OMIM:616155]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2S" RELATED [MONDO:Lexical, OMIM:616155]
synonym: "Charcot-Marie-Tooth neuropathy type 2S" EXACT [DOID:0110171]
synonym: "Charcot-Marie-Tooth neuropathy, type 2S" RELATED [OMIM:616155]
synonym: "CMT2S" EXACT ABBREVIATION [DOID:0110171, MONDO:Lexical, OMIM:616155, Orphanet:443073]
synonym: "IGHMBP2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110171 {source="MONDO:equivalentTo"}
xref: GARD:17751 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:443073", source="Orphanet:443073/attributed", source="Orphanet:443073/ntbt"}
xref: MEDGEN:863786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616155 {source="Orphanet:443073/e", source="MONDO:equivalentTo", source="DOID:0110171", source="Orphanet:443073"}
xref: Orphanet:443073 {source="MONDO:equivalentTo", source="DOID:0110171"}
xref: UMLS:C4015349 {source="MEDGEN:863786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110171/inferred", source="MONDO:Redundant", source="OMIM:616155", source="Orphanet:443073/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110171"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 ! IGHMBP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 {source="MONDO:mim2gene_medgen"} ! IGHMBP2

[Term]
id: MONDO:0014512
name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
def: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy." [Orphanet:438216]
subset: gard_rare {source="GARD:17740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:438216"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 31" EXACT [DOID:0070061]
synonym: "autosomal dominant mental retardation 31" EXACT DEPRECATED [DOID:0070061]
synonym: "autosomal dominant non-syndromic intellectual disability 31" RELATED [DOID:0070061]
synonym: "intellectual disability, autosomal dominant 31" RELATED [MONDO:Lexical, OMIM:616158]
synonym: "intellectual disability, autosomal dominant type 31" EXACT [MONDORULE:2, OMIM:616158]
synonym: "mental retardation, autosomal dominant 31" RELATED DEPRECATED [MONDO:Lexical, OMIM:616158]
synonym: "mental retardation, autosomal dominant type 31" EXACT DEPRECATED [MONDORULE:2, OMIM:616158]
synonym: "MRD31" EXACT ABBREVIATION [DOID:0070061, MONDO:Lexical, OMIM:616158]
synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT [OMIM:616158, OMIM:genemap2]
synonym: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" EXACT CLINGEN_LABEL []
xref: DOID:0070061 {source="MONDO:equivalentTo"}
xref: GARD:17740 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:438216", source="Orphanet:438216/attributed", source="Orphanet:438216/ntbt"}
xref: OMIM:616158 {source="Orphanet:438216", source="MONDO:equivalentTo", source="Orphanet:438216/e", source="DOID:0070061"}
xref: Orphanet:438216 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070061", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic SO:1000008 ! point_mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9701 {source="MONDO:mim2gene_medgen"} ! PURA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014513
name: nemaline myopathy 10
def: "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16066", source="MONDO:GARD"}
subset: rare
synonym: "LMOD3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NEM10" EXACT ABBREVIATION [DOID:0110931, MONDO:Lexical, OMIM:616165]
synonym: "nemaline myopathy 10" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616165]
synonym: "nemaline myopathy caused by mutation in LMOD3" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 10" EXACT [DOID:0110931, MONDORULE:2, OMIM:616165]
xref: DOID:0110931 {source="MONDO:equivalentTo"}
xref: GARD:16066 {source="MONDO:GARD"}
xref: MEDGEN:863797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616165 {source="DOID:0110931", source="MONDO:equivalentTo"}
xref: Orphanet:607 {source="OMIM:616165"}
xref: UMLS:C4015360 {source="MEDGEN:863797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015735 {source="Orphanet:171430/btnt"} ! severe congenital nemaline myopathy
is_a: MONDO:0015737 {source="Orphanet:171436/btnt"} ! typical nemaline myopathy
is_a: MONDO:0018958 {source="DOID:0110931", source="MONDO:Redundant", source="OMIM:616165"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6649 ! LMOD3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6649 {source="MONDO:mim2gene_medgen"} ! LMOD3

[Term]
id: MONDO:0014514
name: aortic aneurysm, familial thoracic 9
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16067", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAT9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616166]
synonym: "aortic aneurysm, familial thoracic 9" EXACT [MONDO:Lexical, OMIM:616166]
synonym: "aortic aneurysm, familial thoracic type 9" EXACT [MONDORULE:1, OMIM:616166]
synonym: "aortic aneurysm, thoracic, with or without aortic dissection" RELATED [OMIM:616166]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5" EXACT [MONDO:design_pattern]
synonym: "MFAP5 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16067 {source="MONDO:GARD"}
xref: MEDGEN:863805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616166 {source="MONDO:equivalentTo"}
xref: Orphanet:91387 {source="OMIM:616166"}
xref: UMLS:C4015368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863805"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:616166", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29673 ! MFAP5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29673 {source="MONDO:mim2gene_medgen"} ! MFAP5

[Term]
id: MONDO:0014515
name: macular dystrophy with central cone involvement
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616170]
synonym: "macular dystrophy with central cone involvement" EXACT [MONDO:Lexical, OMIM:616170]
xref: MEDGEN:863808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616170 {source="MONDO:equivalentTo"}
xref: UMLS:C4015371 {source="MEDGEN:863808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005150 ! age-related macular degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28486 {source="MONDO:mim2gene_medgen"} ! MFSD8

[Term]
id: MONDO:0014516
name: microcephaly and chorioretinopathy 2
def: "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCCRP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616171]
synonym: "microcephaly and chorioretinopathy caused by mutation in PLK4" EXACT [MONDO:design_pattern]
synonym: "microcephaly and chorioretinopathy type 2" EXACT [DOID:0080106, MONDORULE:1]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 2" RELATED [MONDO:Lexical, OMIM:616171]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:616171]
synonym: "PLK4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080106 {source="MONDO:equivalentTo"}
xref: MEDGEN:863825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616171 {source="MONDO:equivalentTo", source="DOID:0080106"}
xref: Orphanet:808 {source="OMIM:616171"}
xref: UMLS:C4015388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863825"}
is_a: MONDO:0000181 {source="DC-OMIM:616171", source="MONDO:Redundant", source="OMIM:616171"} ! microcephaly and chorioretinopathy
intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11397 ! PLK4
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616171"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11397 {source="MONDO:mim2gene_medgen"} ! PLK4

[Term]
id: MONDO:0014517
name: generalized epilepsy with febrile seizures plus, type 9
def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18668", source="MONDO:GARD"}
subset: rare
synonym: "Gefs+, type 9" RELATED [OMIM:616172]
synonym: "GEFSP9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616172]
synonym: "generalised epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT OMO:0003005 []
synonym: "generalised epilepsy with febrile seizures plus caused by mutation in STX1b" EXACT OMO:0003005 []
synonym: "generalized epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT []
synonym: "generalized epilepsy with febrile seizures plus caused by mutation in STX1b" EXACT [MONDO:design_pattern]
synonym: "generalized epilepsy with febrile seizures plus, type 9" EXACT [MONDO:Lexical, OMIM:616172]
synonym: "STX1B generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 []
synonym: "STX1b generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 []
synonym: "STX1B generalized epilepsy with febrile seizures plus" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "STX1b generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern]
xref: DOID:0111301 {source="MONDO:equivalentTo"}
xref: GARD:18668 {source="MONDO:GARD"}
xref: MEDGEN:863832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616172 {source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="OMIM:616172"}
xref: UMLS:C4015395 {source="MEDGEN:863832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018214 {source="DC-OMIM:616172", source="MONDO:Redundant", source="OMIM:616172"} ! generalized epilepsy with febrile seizures plus
intersection_of: MONDO:0018214 ! generalized epilepsy with febrile seizures plus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18539 ! STX1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18539 {source="MONDO:mim2gene_medgen"} ! STX1B

[Term]
id: MONDO:0014518
name: platelet-type bleeding disorder 19
def: "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438207"}
subset: orphanet_rare {source="Orphanet:438207"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT19" EXACT ABBREVIATION [DOID:0111048, MONDO:Lexical, OMIM:616176]
synonym: "bleeding disorder, platelet-type, 19" RELATED [MONDO:Lexical, OMIM:616176]
synonym: "isolated hereditary giant platelet disorder caused by mutation in PRKACG" EXACT [MONDO:design_pattern]
synonym: "PRKACG isolated hereditary giant platelet disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [DOID:0111048]
xref: DOID:0111048 {source="MONDO:equivalentTo"}
xref: GARD:17738 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="Orphanet:438207/attributed", source="Orphanet:438207/ntbt", source="Orphanet:438207", source="DOID:0111048"}
xref: MEDGEN:863842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616176 {source="Orphanet:438207", source="MONDO:equivalentTo", source="Orphanet:438207/e", source="DOID:0111048"}
xref: Orphanet:438207 {source="MONDO:equivalentTo", source="DOID:0111048"}
xref: UMLS:C4015405 {source="MONDO:equivalentTo", source="MEDGEN:863842", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="DC-OMIM:616176", source="MONDO:Redundant", source="OMIM:616176"} ! inherited bleeding disorder, platelet-type
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9382 {source="MONDO:mim2gene_medgen"} ! PRKACG

[Term]
id: MONDO:0014519
name: chronic mountain sickness, susceptibility to
subset: predisposition
synonym: "chronic mountain sickness, susceptibility to" EXACT [OMIM:616182]
synonym: "Monge disease" RELATED [OMIM:616182]
xref: MEDGEN:545568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616182 {source="MONDO:equivalentTo"}
xref: UMLS:C0274294 {source="MONDO:equivalentTo", source="MEDGEN:545568", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:616182"} ! inherited disease susceptibility
relationship: disease_has_feature MONDO:0006625 ! altitude sickness
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0100434 {source="OMIM:616182"} ! chronic mountain sickness
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0014520
name: 46,XX ovarian dysgenesis-short stature syndrome
subset: gard_rare {source="GARD:17760", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444048"}
subset: orphanet_rare {source="Orphanet:444048"}
subset: rare
synonym: "ODG4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616185]
synonym: "ovarian dysgenesis 4" RELATED [MONDO:Lexical, OMIM:616185]
synonym: "ovarian dysgenesis type 4" EXACT [MONDORULE:1, OMIM:616185]
xref: DOID:0080496 {source="MONDO:equivalentTo"}
xref: GARD:17760 {source="MONDO:GARD"}
xref: ICD10CM:Q96.8 {source="Orphanet:444048/attributed", source="Orphanet:444048/ntbt", source="Orphanet:444048"}
xref: MEDGEN:863846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616185 {source="Orphanet:444048", source="MONDO:equivalentTo", source="Orphanet:444048/e"}
xref: Orphanet:444048 {source="MONDO:equivalentTo"}
xref: UMLS:C4015409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863846"}
is_a: MONDO:0019852 {source="Orphanet:444048"} ! inherited primary ovarian failure
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21484 {source="MONDO:mim2gene_medgen"} ! MCM9

[Term]
id: MONDO:0014521
name: progressive myoclonic epilepsy type 7
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435438"}
subset: orphanet_rare {source="Orphanet:435438"}
subset: rare
synonym: "epilepsy, progressive myoclonic 7" RELATED [MONDO:Lexical, OMIM:616187]
synonym: "epilepsy, progressive myoclonic type 7" EXACT [MONDORULE:1, OMIM:616187]
synonym: "EPM7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616187, Orphanet:435438]
synonym: "KCNC1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "meak" EXACT [Orphanet:435438]
synonym: "myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT [Orphanet:435438]
synonym: "PME type 7" EXACT [Orphanet:435438]
synonym: "progressive myoclonic epilepsy caused by mutation in KCNC1" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [Orphanet:435438]
synonym: "progressive myoclonus epilepsy type 7" EXACT [Orphanet:435438]
xref: DOID:0111447 {source="MONDO:equivalentTo"}
xref: GARD:17715 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:435438/attributed", source="Orphanet:435438/ntbt", source="Orphanet:435438"}
xref: MEDGEN:863857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C142804 {source="MONDO:equivalentTo"}
xref: OMIM:616187 {source="Orphanet:435438", source="MONDO:equivalentTo", source="Orphanet:435438/e"}
xref: Orphanet:435438 {source="MONDO:equivalentTo"}
xref: UMLS:C4015420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863857"}
is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder
is_a: MONDO:0020074 {source="DC-OMIM:616187", source="MONDO:Redundant", source="NCIT:C142804", source="OMIM:616187", source="Orphanet:435438"} ! progressive myoclonus epilepsy
is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy
intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6233 ! KCNC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6233 {source="MONDO:mim2gene_medgen"} ! KCNC1

[Term]
id: MONDO:0014522
name: retinal dystrophy and obesity
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RDOB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616188]
synonym: "retinal dystrophy and obesity" EXACT [MONDO:Lexical, OMIM:616188]
xref: MEDGEN:863861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616188 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:616188"}
xref: UMLS:C4015424 {source="MEDGEN:863861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 ! retinitis pigmentosa
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12406 {source="MONDO:mim2gene_medgen"} ! TUB

[Term]
id: MONDO:0014523
name: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
subset: gard_rare {source="GARD:17768", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:445062"}
subset: orphanet_rare {source="Orphanet:445062"}
subset: rare
synonym: "ACPHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616192]
synonym: "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" RELATED [MONDO:Lexical, OMIM:616192]
synonym: "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome" EXACT [Orphanet:445062]
xref: GARD:17768 {source="MONDO:GARD"}
xref: MEDGEN:863873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616192 {source="MONDO:equivalentTo", source="Orphanet:445062", source="Orphanet:445062/e"}
xref: Orphanet:445062 {source="MONDO:equivalentTo"}
xref: UMLS:C4015436 {source="MEDGEN:863873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100309 {source="Orphanet:445062"} ! hereditary ataxia
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:445062", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9439 {source="MONDO:mim2gene_medgen"} ! DNAJC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0014524
name: intellectual disability, autosomal recessive 47
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2" EXACT [MONDO:design_pattern]
synonym: "FMN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal recessive 47" EXACT [OMIM:616193, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 47" EXACT [MONDO:Lexical, OMIM:616193]
synonym: "intellectual disability, autosomal recessive type 47" EXACT [MONDORULE:2, OMIM:616193]
synonym: "mental retardation, autosomal recessive 47" RELATED DEPRECATED [MONDO:Lexical, OMIM:616193]
synonym: "mental retardation, autosomal recessive type 47" EXACT DEPRECATED [MONDORULE:2, OMIM:616193]
synonym: "MRT47" RELATED DEPRECATED [MONDO:Lexical, OMIM:616193]
xref: DOID:0081211 {source="MONDO:equivalentTo"}
xref: GARD:22569 {source="MONDO:GARD"}
xref: MEDGEN:863881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616193 {source="MONDO:equivalentTo"}
xref: UMLS:C4015444 {source="MEDGEN:863881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:616193", source="MONDO:Redundant", source="OMIM:616193"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14074 ! FMN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14074 {source="MONDO:mim2gene_medgen"} ! FMN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014525
name: combined oxidative phosphorylation defect type 23
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444013"}
subset: orphanet_rare {source="Orphanet:444013"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 23" RELATED [MONDO:Lexical, OMIM:616198]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in GTPBP3" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 23" EXACT [MONDORULE:2, OMIM:616198]
synonym: "COXPD23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616198, Orphanet:444013]
synonym: "GTPBP3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111500 {source="MONDO:equivalentTo"}
xref: GARD:17759 {source="MONDO:GARD"}
xref: MEDGEN:1799166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616198 {source="Orphanet:444013", source="MONDO:equivalentTo", source="Orphanet:444013/e"}
xref: Orphanet:444013 {source="MONDO:equivalentTo"}
xref: UMLS:C5567743 {source="MEDGEN:1799166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:616198", source="MONDO:Redundant", source="OMIM:616198"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14880 ! GTPBP3
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:444013", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14880 {source="MONDO:mim2gene_medgen"} ! GTPBP3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014526
name: polyglucosan body myopathy type 2
def: "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:456369"}
subset: orphanet_rare {source="Orphanet:456369"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GYG1 polyglucosan body myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PGBM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616199]
synonym: "polyglucosan body myopathy 2" RELATED [MONDO:Lexical, OMIM:616199]
synonym: "polyglucosan body myopathy caused by mutation in GYG1" EXACT [MONDO:design_pattern]
synonym: "polyglucosan body myopathy type 2" EXACT [MONDORULE:1, OMIM:616199]
xref: GARD:17793 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:456369", source="Orphanet:456369/attributed", source="Orphanet:456369/ntbt"}
xref: MEDGEN:863889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616199 {source="Orphanet:456369", source="MONDO:equivalentTo", source="Orphanet:456369/e"}
xref: Orphanet:456369 {source="MONDO:equivalentTo"}
xref: UMLS:C4015452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863889"}
is_a: MONDO:0000192 {source="DC-OMIM:616199", source="MONDO:Redundant", source="OMIM:616199"} ! polyglucosan body myopathy
is_a: MONDO:0002412 {source="Orphanet:456369", source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0100314 {source="https://clinicalgenome.org/affiliation/40097/"} ! GYG1-related disorder of glycogen metabolism
intersection_of: MONDO:0000192 ! polyglucosan body myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4699 ! GYG1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4699 {source="MONDO:mim2gene_medgen"} ! GYG1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6130" xsd:string

[Term]
id: MONDO:0014527
name: progeroid features-hepatocellular carcinoma predisposition syndrome
subset: gard_rare {source="GARD:17722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435953"}
subset: orphanet_rare {source="Orphanet:435953"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RJALS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616200]
synonym: "RUIJS-Aalfs syndrome" RELATED [MONDO:Lexical, OMIM:616200]
synonym: "Ruijs-Aalfs syndrome" EXACT [Orphanet:435953]
xref: DOID:0111264 {source="MONDO:equivalentTo"}
xref: GARD:17722 {source="MONDO:GARD"}
xref: MEDGEN:863898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616200 {source="Orphanet:435953", source="MONDO:equivalentTo", source="Orphanet:435953/e"}
xref: Orphanet:435953 {source="MONDO:equivalentTo"}
xref: UMLS:C4015461 {source="MEDGEN:863898", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015356 {source="Orphanet:435953"} ! hereditary neoplastic syndrome
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:435953", source="Orphanet:435953/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:435953", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25356 {source="MONDO:mim2gene_medgen"} ! SPRTN

[Term]
id: MONDO:0014528
name: chronic atrial and intestinal dysrhythmia
def: "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." [DOID:0060339, PMID:25282101]
subset: gard_rare {source="GARD:12281", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435988"}
subset: orphanet_rare {source="Orphanet:435988"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "caid" RELATED [MONDO:Lexical, OMIM:616201]
synonym: "caid syndrome" EXACT [DOID:0060339, Orphanet:435988, PMID:25282101]
synonym: "chronic atrial and intestinal dysrhythmia" EXACT [MONDO:Lexical, OMIM:616201]
synonym: "chronic atrial and intestinal dysrhythmia syndrome" RELATED [Orphanet:435988]
synonym: "chronic atrial dysrhythmia-intestinal motility disorder" EXACT [Orphanet:435988]
synonym: "chronic atrial intestinal dysrhythmia syndrome" RELATED [GARD:0012281]
synonym: "Cohesinopathy affecting heart and gut rhythm" RELATED [GARD:0012281]
xref: DOID:0060339 {source="MONDO:equivalentTo"}
xref: GARD:12281 {source="MONDO:GARD"}
xref: ICD10CM:K59.8 {source="Orphanet:435988/attributed", source="Orphanet:435988/ntbt", source="Orphanet:435988"}
xref: MEDGEN:863911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616201 {source="Orphanet:435988", source="MONDO:equivalentTo", source="Orphanet:435988/e", source="DOID:0060339"}
xref: Orphanet:435988 {source="MONDO:equivalentTo"}
xref: SCTID:720507006 {source="MONDO:equivalentTo"}
xref: UMLS:C4015474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863911"}
is_a: MONDO:0002254 {source="DOID:0060339"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-6330-7526"} ! hereditary disease
is_a: MONDO:0005020 {source="Orphanet:435988"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25088 {source="MONDO:mim2gene_medgen"} ! SGO1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6646" xsd:anyURI

[Term]
id: MONDO:0014529
name: cerebellar-facial-dental syndrome
def: "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32." [DOID:0080898]
subset: gard_rare {source="GARD:17761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444072"}
subset: ordo_malformation_syndrome {source="Orphanet:444072"}
subset: orphanet_rare {source="Orphanet:444072"}
subset: rare
synonym: "cerebellar-facial-dental syndrome" EXACT [OMIM:616202]
synonym: "CEREBELLOFACIODENTAL syndrome" RELATED [MONDO:Lexical, OMIM:616202]
synonym: "Cerebellofaciodental syndrome" EXACT [Orphanet:444072]
synonym: "CFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616202]
xref: DOID:0080898 {source="MONDO:equivalentTo"}
xref: GARD:17761 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:444072", source="Orphanet:444072/attributed", source="Orphanet:444072/ntbt"}
xref: MEDGEN:863932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616202 {source="MONDO:equivalentTo", source="Orphanet:444072", source="Orphanet:444072/e"}
xref: Orphanet:444072 {source="MONDO:equivalentTo"}
xref: UMLS:C4015495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863932"}
is_a: MONDO:0015159 {source="Orphanet:444072"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:444072", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11551 {source="MONDO:mim2gene_medgen"} ! BRF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014530
name: autosomal recessive spinocerebellar ataxia 18
def: "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." [Orphanet:363432]
subset: gard_rare {source="GARD:17557", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:363432"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2" EXACT []
synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency" RELATED [Orphanet:363432]
synonym: "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency" EXACT [Orphanet:363432]
synonym: "autosomal recessive spinocerebellar ataxia type 18" EXACT [DOID:0080042, MONDORULE:2]
synonym: "GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCAR18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616204, Orphanet:363432]
synonym: "spinocerebellar ataxia, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:616204]
synonym: "spinocerebellar ataxia, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:616204]
xref: DOID:0080042 {source="MONDO:equivalentTo"}
xref: GARD:17557 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:363432/attributed", source="Orphanet:363432/ntbt", source="Orphanet:363432"}
xref: MEDGEN:863942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616204 {source="DOID:0080042", source="Orphanet:363432", source="MONDO:equivalentTo", source="Orphanet:363432/e"}
xref: Orphanet:363429 {source="OMIM:616204"}
xref: Orphanet:363432 {source="OMIM:616204", source="MONDO:equivalentTo"}
xref: UMLS:C4015505 {source="MEDGEN:863942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018189 {source="MONDO:Redundant", source="Orphanet:363432"} ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
intersection_of: MONDO:0018189 ! autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4576 ! GRID2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4576 {source="MONDO:mim2gene_medgen"} ! GRID2

[Term]
id: MONDO:0014531
name: amyotrophic lateral sclerosis type 22
def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS 22" EXACT [DOID:0060355]
synonym: "ALS22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616208]
synonym: "amyotrophic lateral sclerosis 22" EXACT [DOID:0060355]
synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [DOID:0060355, MONDO:Lexical, OMIM:616208]
synonym: "amyotrophic lateral sclerosis caused by mutation in TUBA4A" EXACT [MONDO:design_pattern]
synonym: "amyotrophic lateral sclerosis type 22" EXACT CLINGEN_LABEL [DOID:0060355]
synonym: "TUBA4A amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060355 {source="MONDO:equivalentTo"}
xref: GARD:16068 {source="MONDO:GARD"}
xref: MEDGEN:863949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616208 {source="DOID:0060355", source="MONDO:equivalentTo"}
xref: Orphanet:803 {source="OMIM:616208"}
xref: UMLS:C4015512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863949"}
is_a: MONDO:0005144 {source="DC-OMIM:616208", source="DOID:0060355", source="MONDO:Redundant", source="OMIM:616208"} ! familial amyotrophic lateral sclerosis
intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12407 ! TUBA4A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12407 {source="MONDO:mim2gene_medgen"} ! TUBA4A

[Term]
id: MONDO:0014532
name: autosomal dominant mitochondrial myopathy with exercise intolerance
subset: gard_rare {source="GARD:17794", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457050"}
subset: orphanet_rare {source="Orphanet:457050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616209]
synonym: "myopathy, isolated mitochondrial, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616209]
xref: DOID:0081357 {source="MONDO:equivalentTo"}
xref: GARD:17794 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:457050", source="Orphanet:457050/attributed", source="Orphanet:457050/ntbt"}
xref: MEDGEN:863950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616209 {source="MONDO:equivalentTo", source="Orphanet:457050", source="Orphanet:457050/e"}
xref: Orphanet:457050 {source="MONDO:equivalentTo"}
xref: UMLS:C4015513 {source="MEDGEN:863950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 {source="Orphanet:457050"} ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020123 {source="Orphanet:457050"} ! metabolic myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15559 {source="MONDO:mim2gene_medgen"} ! CHCHD10

[Term]
id: MONDO:0014533
name: developmental and epileptic encephalopathy, 28
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE28" EXACT ABBREVIATION [OMIM:616211]
synonym: "developmental and epileptic encephalopathy 28" EXACT [OMIM:616211, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in WWOX" EXACT [MONDO:design_pattern]
synonym: "EIEE28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616211]
synonym: "epileptic encephalopathy, early infantile, 28" EXACT [MONDO:Lexical, OMIM:616211]
synonym: "epileptic encephalopathy, early infantile, type 28" EXACT [MONDORULE:2, OMIM:616211]
synonym: "WOREE syndrome" EXACT [PMID:30356099]
synonym: "WWOX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "WWOX-related epileptic encephalopathy" EXACT [PMID:30356099]
xref: DOID:0080452 {source="MONDO:equivalentTo"}
xref: GARD:16069 {source="MONDO:GARD"}
xref: MEDGEN:863956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616211 {source="MONDO:equivalentTo"}
xref: UMLS:C4015519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863956"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:616211", source="MONDO:Redundant", source="OMIM:616211"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12799 ! WWOX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12799 {source="MONDO:mim2gene_medgen"} ! WWOX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3829" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014534
name: lissencephaly 6 with microcephaly
def: "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KATNB1 Microlissencephaly" EXACT [MONDO:design_pattern]
synonym: "KATNB1 microlissencephaly" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "LIS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616212]
synonym: "lissencephaly 6 with microcephaly" EXACT [MONDO:Lexical, OMIM:616212]
synonym: "lissencephaly 6, with microcephaly" EXACT [OMIM:616212, OMIM:genemap2]
synonym: "Microlissencephaly caused by mutation in KATNB1" EXACT [MONDO:design_pattern]
synonym: "microlissencephaly caused by mutation in KATNB1" EXACT []
xref: DOID:0112236 {source="MONDO:equivalentTo"}
xref: MEDGEN:863962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616212 {source="MONDO:equivalentTo"}
xref: UMLS:C4015525 {source="MEDGEN:863962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015204 {source="MONDO:Redundant", source="Orphanet:1083/btnt"} ! microlissencephaly
is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:616212"} ! lissencephaly spectrum disorders
intersection_of: MONDO:0015204 ! microlissencephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6217 ! KATNB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6217 {source="MONDO:mim2gene_medgen"} ! KATNB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014535
name: hyperproinsulinemia
subset: otar {source="MONDO:OTAR"}
synonym: "hyperproinsulinemia" EXACT [OMIM:616214]
xref: EFO:0009650 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562776 {source="MONDO:equivalentTo"}
xref: OMIM:616214 {source="MONDO:equivalentTo"}
xref: SCTID:237613005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137967"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 {source="MONDO:mim2gene_medgen"} ! INS

[Term]
id: MONDO:0014536
name: thrombocytopenia 5
def: "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ETV6 thrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "THC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616216]
synonym: "thrombocytopenia 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616216]
synonym: "thrombocytopenia 5 with increased susceptibility to malignancy" RELATED [OMIM:616216]
synonym: "thrombocytopenia caused by mutation in ETV6" EXACT [MONDO:design_pattern]
synonym: "thrombocytopenia type 5" EXACT [MONDORULE:1, OMIM:616216]
synonym: "thrombocytopenia, autosomal dominant, 5" RELATED [OMIM:616216]
xref: MEDGEN:863974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616216 {source="MONDO:equivalentTo"}
xref: UMLS:C4015537 {source="MONDO:equivalentTo", source="MEDGEN:863974", source="MONDO:MEDGEN"}
is_a: MONDO:0011071 {source="Orphanet:71290", source="https://orcid.org/0000-0001-5493-2602"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome
is_a: MONDO:0100241 {source="DC-OMIM:616216", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia
intersection_of: MONDO:0100241 ! inherited thrombocytopenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3495 ! ETV6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3495 {source="MONDO:mim2gene_medgen"} ! ETV6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6928" xsd:anyURI

[Term]
id: MONDO:0014537
name: nephronophthisis 19
def: "Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18081", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DCDC2 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in DCDC2" EXACT []
synonym: "nephronophthisis 19" EXACT [MONDO:Lexical, OMIM:616217]
synonym: "nephronophthisis type 19" EXACT [DOID:0111126, MONDORULE:2, OMIM:616217]
synonym: "NPHP19" EXACT ABBREVIATION [DOID:0111126, MONDO:Lexical, OMIM:616217]
xref: DOID:0111126 {source="MONDO:equivalentTo"}
xref: GARD:18081 {source="MONDO:GARD"}
xref: MEDGEN:863979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616217 {source="MONDO:equivalentTo", source="DOID:0111126"}
xref: UMLS:C4015542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863979"}
is_a: MONDO:0019005 {source="DC-OMIM:616217", source="DOID:0111126", source="MONDO:Redundant", source="OMIM:616217"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18141 ! DCDC2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616217"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18141 {source="MONDO:mim2gene_medgen"} ! DCDC2

[Term]
id: MONDO:0014538
name: fibrosis of extraocular muscles, congenital, 5
def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18164", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CFEOM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616219]
synonym: "COL25A1 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital fibrosis of extraocular muscles caused by mutation in COL25A1" EXACT [MONDO:design_pattern]
synonym: "fibrosis of extraocular muscles, congenital, 5" EXACT [MONDO:Lexical, OMIM:616219]
synonym: "fibrosis of extraocular muscles, congenital, type 5" EXACT [MONDORULE:1, OMIM:616219]
xref: DOID:0081020 {source="MONDO:equivalentTo"}
xref: GARD:18164 {source="MONDO:GARD"}
xref: MEDGEN:863989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616219 {source="MONDO:equivalentTo"}
xref: Orphanet:45358 {source="OMIM:616219"}
xref: UMLS:C4015552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863989"}
is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:616219"} ! congenital fibrosis of extraocular muscles
intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18603 ! COL25A1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18603 {source="MONDO:mim2gene_medgen"} ! COL25A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014539
name: focal segmental glomerulosclerosis 9
def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CRB2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "focal segmental glomerulosclerosis 9" EXACT [MONDO:Lexical, OMIM:616220]
synonym: "focal segmental glomerulosclerosis caused by mutation in CRB2" EXACT [MONDO:design_pattern]
synonym: "focal segmental glomerulosclerosis type 9" EXACT [DOID:0111134, MONDORULE:1, OMIM:616220]
synonym: "FSGS9" EXACT ABBREVIATION [DOID:0111134, MONDO:Lexical, OMIM:616220]
synonym: "glomerulosclerosis, focal segmental, 9" RELATED [OMIM:616220]
xref: DOID:0111134 {source="MONDO:equivalentTo"}
xref: GARD:16070 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="DOID:0111134"}
xref: MEDGEN:863992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616220 {source="MONDO:equivalentTo", source="DOID:0111134"}
xref: UMLS:C4015555 {source="MEDGEN:863992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005363 {source="DOID:0111134", source="MONDO:Redundant", source="OMIM:616220"} ! inherited focal segmental glomerulosclerosis
intersection_of: MONDO:0005363 ! inherited focal segmental glomerulosclerosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18688 ! CRB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18688 {source="MONDO:mim2gene_medgen"} ! CRB2

[Term]
id: MONDO:0014540
name: amelogenesis imperfecta type 1H
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene." [MONDO:patterns/disease_series_by_gene]
comment: Not in the OMIM series. {source="OMIM:616221"}
subset: gard_rare {source="GARD:16071", source="MONDO:GARD"}
subset: rare
synonym: "AI1H" EXACT ABBREVIATION [DOID:0110064, MONDO:Lexical, OMIM:616221]
synonym: "amelogenesis imperfecta caused by mutation in ITGB6" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta type IH" EXACT [DOID:0110064]
synonym: "amelogenesis imperfecta, type 1H" RELATED [OMIM:616221]
synonym: "amelogenesis imperfecta, type IH" RELATED [MONDO:Lexical, OMIM:616221]
synonym: "ITGB6 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110064 {source="MONDO:equivalentTo"}
xref: GARD:16071 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110064"}
xref: MEDGEN:863994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616221 {source="MONDO:equivalentTo", source="DOID:0110064"}
xref: Orphanet:100031 {source="OMIM:616221"}
xref: Orphanet:88661 {source="OMIM:616221"}
xref: UMLS:C4015557 {source="MEDGEN:863994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015047 {source="https://orcid.org/0000-0002-6601-2165"} ! amelogenesis imperfecta type 1
is_a: MONDO:0019507 {source="DOID:0110064", source="MONDO:Redundant", source="OMIM:616221"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6161 ! ITGB6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6161 {source="MONDO:mim2gene_medgen"} ! ITGB6

[Term]
id: MONDO:0014541
name: motor developmental delay due to 14q32.2 paternally expressed gene defect
def: "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father." [NCIT:C120409]
subset: gard_rare {source="GARD:13431", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254516"}
subset: ordo_malformation_syndrome {source="Orphanet:254516"}
subset: orphanet_rare {source="Orphanet:254516"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy chromosome 14 syndrome" EXACT [NCIT:C120409]
synonym: "mUPD14 syndrome" EXACT [NCIT:C120409]
synonym: "TEMPLE syndrome" RELATED [OMIM:616222]
synonym: "uniparental disomy, maternal, chromosome 14" RELATED [OMIM:616222]
xref: DOID:0111713 {source="MONDO:equivalentTo"}
xref: GARD:13431 {source="MONDO:GARD"}
xref: MEDGEN:863995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120409 {source="MONDO:equivalentTo"}
xref: OMIM:616222 {source="Orphanet:254516/e", source="MONDO:equivalentTo", source="Orphanet:254516"}
xref: Orphanet:254516 {source="MONDO:equivalentTo", source="OMIM:616222"}
xref: UMLS:C4015558 {source="MEDGEN:863995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C120409"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:254516", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014542
name: congenital myasthenic syndrome 15
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." [MONDO:patterns/disease_series_by_gene]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:18453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALG14 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS15" EXACT ABBREVIATION [DOID:0110658, MONDO:Lexical, OMIM:616227]
synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT [DOID:0110658]
synonym: "congenital myasthenic syndrome caused by mutation in ALG14" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 15" EXACT [DOID:0110658, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 15" RELATED [MONDO:Lexical, OMIM:616227]
synonym: "myasthenic syndrome, congenital, 15, without tubular aggregates" EXACT [OMIM:616227, OMIM:genemap2]
synonym: "myasthenic syndrome, congenital, type 15" EXACT [MONDORULE:2, OMIM:616227]
synonym: "myasthenic syndrome, congenital, without tubular aggregates" RELATED [OMIM:616227]
xref: DOID:0110658 {source="MONDO:equivalentTo"}
xref: GARD:18453 {source="MONDO:GARD"}
xref: MEDGEN:864033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616227 {source="DOID:0110658", source="MONDO:equivalentTo"}
xref: Orphanet:353327 {source="OMIM:616227"}
xref: Orphanet:590 {source="OMIM:616227"}
xref: UMLS:C4015596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864033"}
is_a: MONDO:0018940 {source="DOID:0110658", source="MONDO:Redundant", source="OMIM:616227"} ! congenital myasthenic syndrome
is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 ! ALG14
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="MONDO:mim2gene_medgen"} ! ALG14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI

[Term]
id: MONDO:0014543
name: congenital myasthenic syndrome 14
def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18454", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALG2 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CMS14" EXACT ABBREVIATION [DOID:0110669, MONDO:Lexical, OMIM:616228]
synonym: "CMSTA3" EXACT ABBREVIATION [DOID:0110669]
synonym: "congenital myasthenic syndrome 14" EXACT CLINGEN_LABEL []
synonym: "congenital myasthenic syndrome 14, with tubular aggregates" EXACT [DOID:0110669]
synonym: "congenital myasthenic syndrome type 14" EXACT [DOID:0110669, MONDORULE:2]
synonym: "congenital myasthenic syndrome with tubular aggregates 3" EXACT [DOID:0110669]
synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2" EXACT [MONDO:design_pattern]
synonym: "myasthenic syndrome, congenital, 14" RELATED [MONDO:Lexical, OMIM:616228]
synonym: "myasthenic syndrome, congenital, 14, with tubular aggregates" EXACT [OMIM:616228, OMIM:genemap2]
synonym: "myasthenic syndrome, congenital, type 14" EXACT [MONDORULE:2, OMIM:616228]
synonym: "myasthenic syndrome, congenital, with tubular aggregates 3" RELATED [OMIM:616228]
xref: DOID:0110669 {source="MONDO:equivalentTo"}
xref: GARD:18454 {source="MONDO:GARD"}
xref: MEDGEN:864034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616228 {source="DOID:0110669", source="MONDO:equivalentTo"}
xref: Orphanet:353327 {source="OMIM:616228"}
xref: Orphanet:590 {source="OMIM:616228"}
xref: UMLS:C4015597 {source="MEDGEN:864034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000182 {source="DC-OMIM:616228", source="OMIM:616228"} ! congenital myasthenic syndrome with tubular aggregates
is_a: MONDO:0011933 {source="https://orcid.org/0009-0001-2576-9655"} ! ALG2-congenital disorder of glycosylation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23159 {source="MONDO:mim2gene_medgen"} ! ALG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6885" xsd:anyURI

[Term]
id: MONDO:0014544
name: osteogenesis imperfecta type 16
def: "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11." [DOID:0110345, PMID:24079343]
subset: gard_rare {source="GARD:16072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 11p11.2 deletion syndrome 91.3-KB" EXACT [DOID:0110345]
synonym: "chromosome 11P11.2 deletion syndrome, 91.3-Kb" RELATED [OMIM:616229]
synonym: "OI, type 16" RELATED [OMIM:616229]
synonym: "OI16" EXACT ABBREVIATION [DOID:0110345, MONDO:Lexical, OMIM:616229]
synonym: "osteogenesis imperfecta type XVI" EXACT [DOID:0110345]
synonym: "osteogenesis imperfecta, type 16" RELATED [OMIM:616229]
synonym: "osteogenesis imperfecta, type XVI" RELATED [MONDO:Lexical, OMIM:616229]
xref: DOID:0110345 {source="MONDO:equivalentTo"}
xref: GARD:16072 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110345"}
xref: MEDGEN:864047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616229 {source="MONDO:equivalentTo", source="DOID:0110345"}
xref: Orphanet:216812 {source="OMIM:616229", source="MONDO:directSiblingOf"}
xref: UMLS:C4015610 {source="MEDGEN:864047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:616229", source="DOID:0110345", source="OMIM:616229"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014545
name: progressive myoclonic epilepsy type 8
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424027"}
subset: orphanet_rare {source="Orphanet:424027"}
subset: rare
synonym: "CERS1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "epilepsy, progressive myoclonic, 8" RELATED [MONDO:Lexical, OMIM:616230]
synonym: "epilepsy, progressive myoclonic, type 8" EXACT [MONDORULE:1, OMIM:616230]
synonym: "EPM8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616230, Orphanet:424027]
synonym: "PME type 8" EXACT [Orphanet:424027]
synonym: "progressive myoclonic epilepsy caused by mutation in CERS1" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [Orphanet:424027]
synonym: "progressive myoclonus epilepsy type 8" EXACT [Orphanet:424027]
xref: DOID:0111451 {source="MONDO:equivalentTo"}
xref: GARD:17706 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:424027", source="Orphanet:424027/attributed", source="Orphanet:424027/ntbt"}
xref: MEDGEN:1680582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616230 {source="Orphanet:424027", source="MONDO:equivalentTo", source="Orphanet:424027/e"}
xref: Orphanet:424027 {source="MONDO:equivalentTo", source="OMIM:616230"}
xref: UMLS:C5190825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680582"}
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0020074 {source="DC-OMIM:616230", source="MONDO:Redundant", source="OMIM:616230", source="Orphanet:424027"} ! progressive myoclonus epilepsy
intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14253 ! CERS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14253 {source="MONDO:mim2gene_medgen"} ! CERS1

[Term]
id: MONDO:0014546
name: myopathy due to calsequestrin and SERCA1 protein overload
def: "Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." [Orphanet:88635]
subset: gard_rare {source="GARD:16770", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88635"}
subset: orphanet_rare {source="Orphanet:88635"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myopathy, vacuolar, with CASQ1 aggregates" RELATED [MONDO:Lexical, OMIM:616231]
synonym: "VMCQA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616231]
xref: GARD:16770 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:88635/attributed", source="Orphanet:88635/ntbt", source="Orphanet:88635"}
xref: MEDGEN:864061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616231 {source="Orphanet:88635", source="MONDO:equivalentTo", source="Orphanet:88635/e"}
xref: Orphanet:88635 {source="MONDO:equivalentTo", source="OMIM:616231"}
xref: SCTID:724095006 {source="MONDO:equivalentTo"}
xref: UMLS:C4015624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864061"}
is_a: MONDO:0016199 {source="Orphanet:88635"} ! qualitative or quantitative defects of protein SERCA1
is_a: MONDO:0020120 {source="Orphanet:88635", source="Orphanet:88635/inferred"} ! skeletal muscle disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1512 {source="MONDO:mim2gene_medgen"} ! CASQ1

[Term]
id: MONDO:0014547
name: combined oxidative phosphorylation defect type 24
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17765", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444458"}
subset: orphanet_rare {source="Orphanet:444458"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 24" RELATED [MONDO:Lexical, OMIM:616239]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in NARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 24" EXACT [MONDORULE:2, OMIM:616239]
synonym: "COXPD24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616239, Orphanet:444458]
synonym: "NARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111485 {source="MONDO:equivalentTo"}
xref: GARD:17765 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:444458/attributed", source="Orphanet:444458/ntbt", source="Orphanet:444458"}
xref: MEDGEN:864080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616239 {source="Orphanet:444458", source="MONDO:equivalentTo", source="Orphanet:444458/e"}
xref: Orphanet:444458 {source="MONDO:equivalentTo"}
xref: UMLS:C4015643 {source="MEDGEN:864080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:616239", source="MONDO:Redundant", source="OMIM:616239"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26274 ! NARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26274 {source="MONDO:mim2gene_medgen"} ! NARS2

[Term]
id: MONDO:0014548
name: long QT syndrome 14
def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16073", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CALM1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 14" EXACT [MONDO:Lexical, OMIM:616247]
synonym: "long QT syndrome caused by mutation in CALM1" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 14" EXACT [DOID:0110655, MONDORULE:2, OMIM:616247]
synonym: "LQT14" EXACT ABBREVIATION [DOID:0110655, MONDO:Lexical, OMIM:616247]
xref: DOID:0110655 {source="MONDO:equivalentTo"}
xref: GARD:16073 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="DOID:0110655"}
xref: MEDGEN:864108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C177534 {source="MONDO:equivalentTo"}
xref: OMIM:616247 {source="DOID:0110655", source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="OMIM:616247", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:616247"}
xref: UMLS:C4015671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864108"}
is_a: MONDO:0019171 {source="OMIM:616247", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1442 ! CALM1
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110655", source="OMIM:616247", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1442 {source="MONDO:mim2gene_medgen"} ! CALM1

[Term]
id: MONDO:0014549
name: lethal congenital contracture syndrome 6
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LCCS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616248]
synonym: "lethal congenital contracture syndrome 6" EXACT [MONDO:Lexical, OMIM:616248]
synonym: "lethal congenital contracture syndrome caused by mutation in ZBTB42" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 6" EXACT [MONDORULE:1, OMIM:616248]
synonym: "ZBTB42 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:864123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616248 {source="MONDO:equivalentTo"}
xref: UMLS:C4015686 {source="MEDGEN:864123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017436 {source="DC-OMIM:616248", source="MONDO:Redundant", source="OMIM:616248"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32550 ! ZBTB42
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32550 {source="MONDO:mim2gene_medgen"} ! ZBTB42

[Term]
id: MONDO:0014550
name: long QT syndrome 15
def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16074", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CALM2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "long QT syndrome 15" EXACT [MONDO:Lexical, OMIM:616249]
synonym: "long QT syndrome caused by mutation in CALM2" EXACT [MONDO:design_pattern]
synonym: "long QT syndrome type 15" EXACT [DOID:0110656, MONDORULE:2, OMIM:616249]
synonym: "LQT15" EXACT ABBREVIATION [DOID:0110656, MONDO:Lexical, OMIM:616249]
xref: DOID:0110656 {source="MONDO:equivalentTo"}
xref: GARD:16074 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="DOID:0110656"}
xref: MEDGEN:864132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616249 {source="DOID:0110656", source="MONDO:equivalentTo"}
xref: Orphanet:101016 {source="OMIM:616249", source="MONDO:directSiblingOf"}
xref: Orphanet:768 {source="OMIM:616249"}
xref: UMLS:C4015695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864132"}
is_a: MONDO:0019171 {source="OMIM:616249", source="Orphanet:101016-prototype"} ! familial long QT syndrome
intersection_of: MONDO:0019171 ! familial long QT syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1445 ! CALM2
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110656", source="OMIM:616249", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1445 {source="MONDO:mim2gene_medgen"} ! CALM2

[Term]
id: MONDO:0014551
name: short stature with nonspecific skeletal abnormalities
synonym: "short stature with nonspecific skeletal abnormalities" EXACT [MONDO:Lexical, OMIM:616255]
synonym: "SNSK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616255]
xref: MEDGEN:906874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616255 {source="MONDO:equivalentTo"}
xref: UMLS:C4225399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906874"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 {source="MONDO:mim2gene_medgen"} ! NPR2

[Term]
id: MONDO:0014552
name: lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
def: "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." [Orphanet:439897]
subset: gard_rare {source="GARD:17743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439897"}
subset: ordo_malformation_syndrome {source="Orphanet:439897"}
subset: orphanet_rare {source="Orphanet:439897"}
subset: rare
synonym: "Meckel syndrome 12" RELATED [MONDO:Lexical, OMIM:616258]
synonym: "Meckel syndrome type 12" EXACT [MONDORULE:2, OMIM:616258]
synonym: "MKS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616258]
xref: GARD:17743 {source="MONDO:GARD"}
xref: MEDGEN:864138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616258 {source="Orphanet:439897/e", source="MONDO:equivalentTo", source="Orphanet:439897"}
xref: Orphanet:439897 {source="MONDO:equivalentTo"}
xref: UMLS:C4015701 {source="MEDGEN:864138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015168 {source="Orphanet:439897"} ! arthrogryposis multiplex congenita
is_a: MONDO:0018921 {source="DC-OMIM:616258", source="OMIM:616258"} ! Meckel syndrome
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19181 {source="MONDO:mim2gene_medgen"} ! KIF14

[Term]
id: MONDO:0014553
name: Tenorio syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "overgrowth, macrocephaly, and intellectual disability syndrome" RELATED [OMIM:616260]
synonym: "TENORIO syndrome" RELATED [OMIM:616260]
synonym: "Tenorio syndrome" EXACT [MONDO:Lexical, OMIM:616260]
synonym: "TNORS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616260]
xref: MEDGEN:864147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616260 {source="MONDO:equivalentTo"}
xref: UMLS:C4015710 {source="MEDGEN:864147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21150 {source="MONDO:mim2gene_medgen"} ! RNF125

[Term]
id: MONDO:0014554
name: obsolete infantile multisystem neurologic-endocrine-pancreatic disease
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3684" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024189

[Term]
id: MONDO:0014555
name: peeling skin syndrome type A
def: "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin." [Orphanet:263548]
subset: gard_rare {source="GARD:17258", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:263548"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "generalised deciduous skin type A" EXACT OMO:0003005 []
synonym: "generalised peeling skin syndrome type A" EXACT OMO:0003005 []
synonym: "generalized deciduous skin type A" EXACT [Orphanet:263548]
synonym: "generalized peeling skin syndrome type A" EXACT [Orphanet:263548]
synonym: "non-inflammatory generalised peeling skin syndrome type A." EXACT OMO:0003005 []
synonym: "non-inflammatory generalized peeling skin syndrome type A." EXACT [Orphanet:263548]
synonym: "non-inflammatory peeling skin syndrome type A" EXACT [Orphanet:263548]
synonym: "peeling skin syndrome 3" RELATED [MONDO:Lexical, OMIM:616265]
synonym: "peeling skin syndrome type 3" EXACT [MONDORULE:1, OMIM:616265]
synonym: "PSS type A" EXACT [Orphanet:263548]
synonym: "PSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616265]
xref: DOID:0070522 {source="MONDO:equivalentTo"}
xref: GARD:17258 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:263548/attributed", source="Orphanet:263548/ntbt", source="Orphanet:263548"}
xref: MEDGEN:864166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616265 {source="Orphanet:263548/e", source="MONDO:equivalentTo", source="Orphanet:263548"}
xref: Orphanet:263543 {source="OMIM:616265"}
xref: Orphanet:263548 {source="MONDO:equivalentTo", source="OMIM:616265"}
xref: UMLS:C4015729 {source="MEDGEN:864166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010033 {source="Orphanet:263548"} ! generalized peeling skin syndrome
is_a: MONDO:0019347 {source="MONDO:Redundant", source="OMIM:616265", source="Orphanet:263548/inferred"} ! peeling skin syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15993 {source="MONDO:mim2gene_medgen"} ! CHST8

[Term]
id: MONDO:0014556
name: congenital contractures of the limbs and face, hypotonia, and developmental delay
def: "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases." [Orphanet:562528]
subset: gard_rare {source="GARD:16075", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:562528"}
subset: orphanet_rare {source="Orphanet:562528"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLIFAHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616266]
synonym: "CLIFAHDD syndrome" EXACT [Orphanet:562528]
synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [MONDO:Lexical, OMIM:616266]
synonym: "congenital limbs-face contractures-hypotonia-developmental delay syndrome" EXACT [Orphanet:562528]
xref: DOID:0081048 {source="MONDO:equivalentTo"}
xref: EFO:1001868 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16075 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="MONDO:mondoSubClassOfSource", source="Orphanet:562528"}
xref: MEDGEN:907234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616266 {source="MONDO:equivalentTo", source="Orphanet:562528"}
xref: Orphanet:562528 {source="MONDO:equivalentTo"}
xref: UMLS:C4225398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907234"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19082 {source="MONDO:mim2gene_medgen"} ! NALCN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014557
name: ataxia - oculomotor apraxia type 4
def: "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:459033"}
subset: orphanet_rare {source="Orphanet:459033"}
subset: rare
synonym: "AOA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616267, Orphanet:459033]
synonym: "ataxia - oculomotor apraxia type 4" EXACT [MONDORULE:1, OMIM:616267]
synonym: "ataxia-oculomotor apraxia 4" RELATED [MONDO:Lexical, OMIM:616267]
synonym: "ataxia-oculomotor apraxia-4" RELATED [GARD:0013111]
synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP" EXACT [MONDO:design_pattern]
synonym: "PNKP oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081383 {source="MONDO:equivalentTo"}
xref: GARD:13111 {source="MONDO:GARD"}
xref: MEDGEN:902323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616267 {source="Orphanet:459033/e", source="MONDO:equivalentTo", source="Orphanet:459033"}
xref: Orphanet:459033 {source="MONDO:equivalentTo"}
xref: UMLS:C4225397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902323"}
is_a: MONDO:0020047 {source="EFO:0009016", source="Orphanet:459033"} ! autosomal recessive syndromic cerebellar ataxia
is_a: MONDO:0020127 {source="Orphanet:459033"} ! hereditary peripheral neuropathy
is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9154 {source="MONDO:mim2gene_medgen"} ! PNKP
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4" xsd:anyURI {source="GARD:0013111"}

[Term]
id: MONDO:0014558
name: autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
def: "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described." [Orphanet:457193]
subset: gard_rare {source="GARD:17797", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1954"}
subset: ordo_disorder {source="Orphanet:457193"}
subset: ordo_malformation_syndrome {source="Orphanet:457193"}
subset: orphanet_rare {source="Orphanet:457193"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arboleda-Tham syndrome" EXACT [OMIM:616268, OMIM:genemap2]
synonym: "autosomal dominant intellectual disability 32" EXACT [DOID:0070062]
synonym: "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant mental retardation 32" EXACT DEPRECATED [DOID:0070062]
synonym: "autosomal dominant non-syndromic intellectual disability 32" RELATED [DOID:0070062]
synonym: "intellectual disability, autosomal dominant 32" RELATED [MONDO:Lexical, OMIM:616268]
synonym: "intellectual disability, autosomal dominant type 32" EXACT [MONDORULE:2, OMIM:616268]
synonym: "KAT6A Syndrome" EXACT [http://www.kat6a.org/, https://rarediseases.org/rare-diseases/kat6a-syndrome/, NORD:1954, PMID:30245513]
synonym: "mental retardation, autosomal dominant 32" RELATED DEPRECATED [MONDO:Lexical, OMIM:616268]
synonym: "mental retardation, autosomal dominant type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:616268]
synonym: "MRD32" EXACT ABBREVIATION [DOID:0070062, MONDO:Lexical, OMIM:616268]
xref: DOID:0070062 {source="MONDO:equivalentTo"}
xref: GARD:17797 {source="MONDO:GARD"}
xref: MEDGEN:903767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1954 {source="MONDO:NORD"}
xref: OMIM:616268 {source="MONDO:equivalentTo", source="Orphanet:457193", source="Orphanet:457193/e", source="DOID:0070062"}
xref: Orphanet:457193 {source="MONDO:equivalentTo"}
xref: UMLS:C4225396 {source="MEDGEN:903767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457193", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015159 {source="Orphanet:457193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015338 {source="Orphanet:457193"} ! syndromic craniosynostosis
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070062", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13013 {source="MONDO:mim2gene_medgen"} ! KAT6A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0014559
name: progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
subset: gard_rare {source="GARD:17798", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457212"}
subset: orphanet_rare {source="Orphanet:457212"}
subset: rare
synonym: "intellectual disability, autosomal recessive 48" RELATED [MONDO:Lexical, OMIM:616269]
synonym: "intellectual disability, autosomal recessive type 48" EXACT [MONDORULE:2, OMIM:616269]
synonym: "mental retardation, autosomal recessive 48" RELATED DEPRECATED [MONDO:Lexical, OMIM:616269]
synonym: "mental retardation, autosomal recessive type 48" EXACT DEPRECATED [MONDORULE:2, OMIM:616269]
synonym: "MRT48" RELATED DEPRECATED [MONDO:Lexical, OMIM:616269]
xref: DOID:0081212 {source="MONDO:equivalentTo"}
xref: GARD:17798 {source="MONDO:GARD"}
xref: MEDGEN:895952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616269 {source="Orphanet:457212/e", source="MONDO:equivalentTo", source="Orphanet:457212"}
xref: Orphanet:457212 {source="MONDO:equivalentTo"}
xref: UMLS:C4225395 {source="MEDGEN:895952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="Orphanet:457212"} ! movement disorder
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:457212", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983", source="MONDO:0017644"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31399 {source="MONDO:mim2gene_medgen"} ! SLC6A17
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014560
name: amelogenesis imperfecta type 1F
def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16076", source="MONDO:GARD"}
subset: rare
synonym: "AI1F" EXACT ABBREVIATION [DOID:0110065, MONDO:Lexical, OMIM:616270]
synonym: "AMBN amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "amelogenesis imperfecta caused by mutation in AMBN" EXACT [MONDO:design_pattern]
synonym: "amelogenesis imperfecta hypoplastic type IF" EXACT [DOID:0110065]
synonym: "amelogenesis imperfecta type IF" EXACT [DOID:0110065]
synonym: "amelogenesis imperfecta, hypoplastic type 1F" RELATED [OMIM:616270]
synonym: "amelogenesis imperfecta, type 1F" RELATED [OMIM:616270]
synonym: "amelogenesis imperfecta, type IF" RELATED [MONDO:Lexical, OMIM:616270]
xref: DOID:0110065 {source="MONDO:equivalentTo"}
xref: GARD:16076 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:0110065"}
xref: MEDGEN:898597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616270 {source="MONDO:equivalentTo", source="DOID:0110065"}
xref: Orphanet:100031 {source="OMIM:616270"}
xref: UMLS:C4225394 {source="MEDGEN:898597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1
is_a: MONDO:0019507 {source="DOID:0110065", source="MONDO:Redundant", source="OMIM:616270"} ! amelogenesis imperfecta
intersection_of: MONDO:0019507 ! amelogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/452 ! AMBN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/452 {source="MONDO:mim2gene_medgen"} ! AMBN

[Term]
id: MONDO:0014561
name: 3-methylglutaconic aciduria, type VIIB
comment: Present because it is in the OMIM series. {source="OMIM:616271"}
subset: gard_rare {source="GARD:17767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:445038"}
subset: orphanet_rare {source="Orphanet:445038"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-methylglutaconic aciduria type 7" EXACT [DOID:0110003]
synonym: "3-methylglutaconic aciduria type VII" EXACT [DOID:0110003]
synonym: "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia" EXACT [DOID:0110003]
synonym: "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia" RELATED [MONDO:Lexical, OMIM:616271]
synonym: "3-Methylglutaconic aciduria, type 7" RELATED [OMIM:616271]
synonym: "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" EXACT [OMIM:616271, OMIM:genemap2]
synonym: "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" EXACT [Orphanet:445038]
synonym: "CLPB 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MEGCANN" EXACT ABBREVIATION [DOID:0110003, MONDO:Lexical, OMIM:616271]
synonym: "MGA7" EXACT ABBREVIATION [DOID:0110003, Orphanet:445038]
synonym: "MGCA7" EXACT ABBREVIATION [DOID:0110003]
xref: DOID:0081134 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0110003 {source="MONDO:equivalentTo"}
xref: GARD:17767 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:445038/attributed", source="Orphanet:445038/ntbt", source="Orphanet:445038"}
xref: MEDGEN:1810214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616271 {source="Orphanet:445038", source="MONDO:equivalentTo", source="Orphanet:445038/e", source="DOID:0110003"}
xref: Orphanet:445038 {source="MONDO:equivalentTo", source="DOID:0110003"}
xref: SCTID:764860006 {source="MONDO:equivalentTo"}
xref: UMLS:C5676893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810214"}
is_a: MONDO:0017359 {source="DC-OMIM:616271", source="DOID:0110003", source="EFO:0009014", source="MONDO:Redundant", source="OMIM:616271", source="Orphanet:445038"} ! 3-methylglutaconic aciduria
relationship: disease_has_feature MONDO:0005066 ! metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30664 {source="MONDO:mim2gene_medgen"} ! CLPB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014562
name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
subset: gard_rare {source="GARD:17796", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457185"}
subset: orphanet_rare {source="Orphanet:457185"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coenzyme Q10 deficiency, primary, 7" RELATED [MONDO:Lexical, OMIM:616276]
synonym: "coenzyme Q10 deficiency, primary, type 7" EXACT [MONDORULE:1, OMIM:616276]
synonym: "COQ10D7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616276]
synonym: "COQ4-related neonatal encephalomyopathy" EXACT [Orphanet:457185]
synonym: "primary coenzyme Q10 deficiency 7" RELATED [DOID:0070244]
xref: DOID:0070244 {source="MONDO:equivalentTo"}
xref: GARD:17796 {source="MONDO:GARD"}
xref: MEDGEN:1799985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616276 {source="Orphanet:457185/e", source="MONDO:equivalentTo", source="Orphanet:457185"}
xref: Orphanet:457185 {source="MONDO:equivalentTo"}
xref: UMLS:C5568562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799985"}
is_a: MONDO:0018151 {source="DC-OMIM:616276", source="OMIM:616276", source="Orphanet:457185"} ! coenzyme Q10 deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19693 {source="MONDO:mim2gene_medgen"} ! COQ4

[Term]
id: MONDO:0014563
name: mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13019", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:653880"}
subset: orphanet_rare {source="Orphanet:653880"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ECHS1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616277]
synonym: "mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency" RELATED [OMIM:616277]
synonym: "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616277]
synonym: "short-chain enoyl-CoA hydratase deficiency" RELATED [GARD:0013019]
xref: DOID:0070540 {source="MONDO:equivalentTo"}
xref: GARD:13019 {source="MONDO:GARD"}
xref: MEDGEN:902729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616277 {source="MONDO:equivalentTo"}
xref: Orphanet:506 {source="OMIM:616277"}
xref: Orphanet:653880 {source="MONDO:equivalentTo"}
xref: UMLS:C4225391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902729"}
is_a: MONDO:0044970 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3151 {source="MONDO:mim2gene_medgen"} ! ECHS1

[Term]
id: MONDO:0014564
name: congenital bile acid synthesis defect 5
def: "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABCD3 congenital bile acid synthesis defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "bile acid synthesis defect, congenital, 5" RELATED [MONDO:Lexical, OMIM:616278]
synonym: "bile acid synthesis defect, congenital, type 5" EXACT [MONDORULE:1, OMIM:616278]
synonym: "CBAS5" EXACT ABBREVIATION [DOID:0111066, MONDO:Lexical, OMIM:616278]
synonym: "congenital bile acid synthesis defect 5" EXACT []
synonym: "congenital bile acid synthesis defect caused by mutation in ABCD3" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 5" EXACT [DOID:0111066, MONDORULE:1]
xref: DOID:0111066 {source="MONDO:equivalentTo"}
xref: MEDGEN:904751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616278 {source="MONDO:equivalentTo", source="DOID:0111066"}
xref: UMLS:C4225390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904751"}
is_a: MONDO:0018841 {source="DC-OMIM:616278", source="DOID:0111066", source="MONDO:Redundant", source="OMIM:616278"} ! congenital bile acid synthesis defect
is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal transporter
intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/67 ! ABCD3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/67 {source="MONDO:mim2gene_medgen"} ! ABCD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0014565
name: cataract 43
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 43" EXACT [MONDO:Lexical, OMIM:616279]
synonym: "cataract type 43" EXACT [DOID:0110259, MONDORULE:2, OMIM:616279]
synonym: "CTRCT43" EXACT ABBREVIATION [DOID:0110259, MONDO:Lexical, OMIM:616279]
synonym: "early-onset non-syndromic cataract caused by mutation in UNC45B" EXACT [MONDO:design_pattern]
synonym: "UNC45B early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110259 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110259"}
xref: MEDGEN:901691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616279 {source="DOID:0110259", source="MONDO:equivalentTo"}
xref: Orphanet:91492 {source="OMIM:616279"}
xref: Orphanet:98991 {source="OMIM:616279", source="MONDO:relatedTo"}
xref: UMLS:C4225389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901691"}
is_a: MONDO:0005129 {source="DOID:0110259", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:616279"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14304 ! UNC45B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14304 {source="MONDO:mim2gene_medgen"} ! UNC45B

[Term]
id: MONDO:0014566
name: Charcot-Marie-Tooth disease axonal type 2U
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." [Orphanet:397735]
subset: gard_rare {source="GARD:17638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397735"}
subset: orphanet_rare {source="Orphanet:397735"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" EXACT [Orphanet:397735]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U" RELATED [OMIM:616280]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2U" RELATED [MONDO:Lexical, OMIM:616280]
synonym: "Charcot-Marie-Tooth neuropathy type 2U" EXACT [DOID:0110173]
synonym: "Charcot-Marie-Tooth neuropathy, type 2U" RELATED [OMIM:616280]
synonym: "CMT2U" EXACT ABBREVIATION [DOID:0110173, MONDO:Lexical, OMIM:616280, Orphanet:397735]
synonym: "MARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110173 {source="MONDO:equivalentTo"}
xref: GARD:17638 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="DOID:0110173", source="Orphanet:397735/attributed", source="Orphanet:397735/ntbt", source="Orphanet:397735"}
xref: MEDGEN:906504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616280 {source="Orphanet:397735/e", source="MONDO:equivalentTo", source="DOID:0110173", source="Orphanet:397735"}
xref: Orphanet:397735 {source="MONDO:equivalentTo", source="OMIM:616280", source="DOID:0110173"}
xref: SCTID:765046002 {source="MONDO:equivalentTo"}
xref: UMLS:C4084821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906504"}
is_a: MONDO:0015626 {source="DOID:0110173/inferred", source="MONDO:Redundant", source="OMIM:616280", source="Orphanet:397735/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110173", source="MONDO:Redundant", source="Orphanet:397735"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6898 ! MARS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6898 {source="MONDO:mim2gene_medgen"} ! MARS1

[Term]
id: MONDO:0014567
name: glutamate pyruvate transaminase 2 deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17853", source="MONDO:GARD"}
subset: nord_rare {source="NORD:91168", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477673"}
subset: orphanet_rare {source="Orphanet:477673"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT CLINGEN_LABEL []
synonym: "GPT2 Deficiency" EXACT [NORD:91168]
synonym: "GPT2 deficiency" EXACT [https://orcid.org/0000-0002-5655-9589, PMID:31471722]
synonym: "mental retardation, autosomal recessive 49" EXACT DEPRECATED [MONDO:Lexical, OMIM:616281]
synonym: "mental retardation, autosomal recessive type 49" EXACT DEPRECATED [MONDORULE:2, OMIM:616281]
synonym: "MRT49" EXACT DEPRECATED [OMIM:616281]
synonym: "neurodevelopmental disorder with microcephaly and spastic paraplegia" EXACT [OMIM:616281, OMIM:genemap2]
synonym: "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" EXACT [Orphanet:477673]
xref: DOID:0070542 {source="MONDO:equivalentTo"}
xref: GARD:17853 {source="MONDO:GARD"}
xref: MEDGEN:906606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:91168 {source="MONDO:NORD"}
xref: OMIM:616281 {source="Orphanet:477673", source="MONDO:equivalentTo"}
xref: Orphanet:477673 {source="MONDO:equivalentTo"}
xref: UMLS:C4225388 {source="MEDGEN:906606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:477673", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18062 {source="MONDO:mim2gene_medgen"} ! GPT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014568
name: hereditary spastic paraplegia 73
def: "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." [Orphanet:444099]
subset: gard_rare {source="GARD:17763", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444099"}
subset: orphanet_rare {source="Orphanet:444099"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant spastic paraplegia 73" EXACT [DOID:0110818]
synonym: "autosomal dominant spastic paraplegia type 73" EXACT [DOID:0110818]
synonym: "CPT1C autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia type 73" EXACT [DOID:0110818, MONDORULE:2]
synonym: "spastic paraplegia 73, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616282]
synonym: "SPG73" EXACT ABBREVIATION [DOID:0110818, MONDO:Lexical, OMIM:616282, Orphanet:444099]
xref: DOID:0110818 {source="MONDO:equivalentTo"}
xref: GARD:17763 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:444099/attributed", source="Orphanet:444099/ntbt", source="DOID:0110818", source="Orphanet:444099"}
xref: MEDGEN:1800404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616282 {source="Orphanet:444099/e", source="MONDO:equivalentTo", source="DOID:0110818", source="Orphanet:444099"}
xref: Orphanet:444099 {source="MONDO:equivalentTo", source="DOID:0110818"}
xref: UMLS:C5568981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800404"}
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110818", source="MONDO:Redundant", source="OMIM:616282", source="Orphanet:444099/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18540 {source="MONDO:mim2gene_medgen"} ! CPT1C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0014569
name: lethal congenital contracture syndrome 7
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:18564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CNTNAP1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616286]
synonym: "lethal congenital contracture syndrome 7" EXACT [MONDO:Lexical, OMIM:616286]
synonym: "lethal congenital contracture syndrome caused by mutation in CNTNAP1" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 7" EXACT [MONDORULE:1, OMIM:616286]
xref: GARD:18564 {source="MONDO:GARD"}
xref: MEDGEN:894160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616286 {source="MONDO:equivalentTo"}
xref: Orphanet:2680 {source="OMIM:616286"}
xref: UMLS:C4225386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894160"}
is_a: MONDO:0017436 {source="DC-OMIM:616286", source="MONDO:Redundant", source="OMIM:616286"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8011 ! CNTNAP1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8011 {source="MONDO:mim2gene_medgen"} ! CNTNAP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014570
name: lethal congenital contracture syndrome 8
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:18565", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADCY6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616287]
synonym: "lethal congenital contracture syndrome 8" EXACT [MONDO:Lexical, OMIM:616287]
synonym: "lethal congenital contracture syndrome caused by mutation in ADCY6" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 8" EXACT [MONDORULE:1, OMIM:616287]
xref: GARD:18565 {source="MONDO:GARD"}
xref: MEDGEN:896058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616287 {source="MONDO:equivalentTo"}
xref: Orphanet:2680 {source="OMIM:616287"}
xref: UMLS:C4225385 {source="MEDGEN:896058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017436 {source="DC-OMIM:616287", source="MONDO:Redundant", source="OMIM:616287"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/237 ! ADCY6
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/237 {source="MONDO:mim2gene_medgen"} ! ADCY6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014571
name: optic atrophy 9
subset: gard_rare {source="GARD:18199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACO2 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal recessive isolated optic atrophy caused by mutation in ACO2" EXACT [MONDO:design_pattern]
synonym: "OPA9" RELATED ABBREVIATION [OMIM:616289]
synonym: "optic atrophy 9" EXACT [OMIM:616289]
xref: DOID:0111442 {source="MONDO:equivalentTo"}
xref: GARD:18199 {source="MONDO:GARD"}
xref: MEDGEN:898858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616289 {source="MONDO:equivalentTo"}
xref: UMLS:C4225384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898858"}
is_a: MONDO:0043878 {source="MONDO:Redundant", source="OMIM:616289"} ! hereditary optic atrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/118 {source="MONDO:mim2gene_medgen"} ! ACO2

[Term]
id: MONDO:0014572
name: Lichtenstein-Knorr syndrome
subset: gard_rare {source="GARD:17780", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:448251"}
subset: orphanet_rare {source="Orphanet:448251"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spinocerebellar ataxia 19" RELATED [DOID:0080065]
synonym: "autosomal recessive spinocerebellar ataxia type 19" EXACT [DOID:0080065, MONDORULE:2]
synonym: "Lichtenstein-Knorr syndrome" EXACT [MONDO:Lexical, OMIM:616291, Orphanet:448251]
synonym: "LIKNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616291]
synonym: "progressive autosomal recessive ataxia-deafness syndrome" RELATED [Orphanet:448251]
synonym: "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome" EXACT [Orphanet:448251]
synonym: "SCAR19" EXACT ABBREVIATION [Orphanet:448251]
synonym: "spinocerebellar ataxia, autosomal recessive 19" RELATED [OMIM:616291]
xref: DOID:0080065 {source="MONDO:equivalentTo"}
xref: GARD:17780 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:448251", source="Orphanet:448251/attributed", source="Orphanet:448251/ntbt"}
xref: MEDGEN:898996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616291 {source="DOID:0080065", source="MONDO:equivalentTo", source="Orphanet:448251", source="Orphanet:448251/e"}
xref: Orphanet:448251 {source="MONDO:equivalentTo"}
xref: UMLS:C4225383 {source="MEDGEN:898996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="DOID:0080065"} ! autosomal recessive cerebellar ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11071 {source="MONDO:mim2gene_medgen"} ! SLC9A1

[Term]
id: MONDO:0014573
name: Cole-Carpenter syndrome 2
def: "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CLCRP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616294]
synonym: "COLE-CARPENTER syndrome 2" RELATED [OMIM:616294]
synonym: "Cole-Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:616294]
synonym: "Cole-Carpenter syndrome caused by mutation in SEC24D" EXACT [MONDO:design_pattern]
synonym: "Cole-Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:616294]
synonym: "SEC24D Cole-Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16077 {source="MONDO:GARD"}
xref: MEDGEN:905199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616294 {source="MONDO:equivalentTo"}
xref: Orphanet:2050 {source="OMIM:616294"}
xref: UMLS:C4225382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905199"}
is_a: MONDO:0016085 {source="DC-OMIM:616294", source="MONDO:Redundant", source="OMIM:616294"} ! Cole-Carpenter syndrome
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0016085 ! Cole-Carpenter syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10706 ! SEC24D
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10706 {source="MONDO:mim2gene_medgen"} ! SEC24D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014574
name: peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
subset: gard_rare {source="GARD:17764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444138"}
subset: orphanet_rare {source="Orphanet:444138"}
subset: rare
synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" RELATED [MONDO:Lexical, OMIM:616295]
synonym: "peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" RELATED [Orphanet:444138]
synonym: "plack" RELATED [MONDO:Lexical, OMIM:616295]
synonym: "plack syndrome" EXACT [Orphanet:444138]
xref: DOID:0070526 {source="MONDO:equivalentTo"}
xref: GARD:17764 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:444138/attributed", source="Orphanet:444138/ntbt", source="Orphanet:444138"}
xref: MEDGEN:902464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616295 {source="Orphanet:444138", source="MONDO:equivalentTo", source="Orphanet:444138/e"}
xref: Orphanet:444138 {source="MONDO:equivalentTo"}
xref: UMLS:C4225381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902464"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="MONDO:0008388"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1515 {source="MONDO:mim2gene_medgen"} ! CAST
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014575
name: Singleton-Merten syndrome 2
def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16078", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DDX58 singleton-Merten dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SGMRT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616298]
synonym: "singleton-Merten dysplasia caused by mutation in DDX58" EXACT [MONDO:design_pattern]
synonym: "singleton-Merten syndrome 2" EXACT [MONDO:Lexical, OMIM:616298]
synonym: "singleton-Merten syndrome type 2" EXACT [MONDORULE:1, OMIM:616298]
xref: GARD:16078 {source="MONDO:GARD"}
xref: MEDGEN:907372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616298 {source="MONDO:equivalentTo"}
xref: Orphanet:85191 {source="OMIM:616298"}
xref: UMLS:C4225380 {source="MEDGEN:907372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008429 {source="MONDO:Redundant", source="OMIM:616298", source="Orphanet:85191/btnt"} ! Singleton-Merten dysplasia
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0008429 ! Singleton-Merten dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19102 ! RIGI
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19102 {source="MONDO:mim2gene_medgen"} ! RIGI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014576
name: lipoyl transferase 1 deficiency
subset: gard_rare {source="GARD:12680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401862"}
subset: orphanet_rare {source="Orphanet:401862"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lipoyltransferase 1 deficiency" RELATED [MONDO:Lexical, OMIM:616299]
synonym: "LIPT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616299]
xref: GARD:12680 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:401862", source="Orphanet:401862/attributed", source="Orphanet:401862/ntbt"}
xref: MEDGEN:904073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616299 {source="Orphanet:401862", source="MONDO:equivalentTo", source="Orphanet:401862/e"}
xref: Orphanet:401862 {source="MONDO:equivalentTo", source="OMIM:616299"}
xref: UMLS:C4225379 {source="MEDGEN:904073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018424 {source="Orphanet:401862"} ! inherited lipoic acid biosynthesis defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29569 {source="MONDO:mim2gene_medgen"} ! LIPT1

[Term]
id: MONDO:0014577
name: short-rib thoracic dysplasia 13 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23." [DOID:0110093, PMID:25361962]
subset: gard_rare {source="GARD:16079", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short-rib thoracic dysplasia 13 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:616300]
synonym: "SRTD13" EXACT ABBREVIATION [DOID:0110093, MONDO:Lexical, OMIM:616300]
xref: DOID:0110093 {source="MONDO:equivalentTo"}
xref: GARD:16079 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="DOID:0110093"}
xref: MEDGEN:898712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616300 {source="DOID:0110093", source="MONDO:equivalentTo"}
xref: Orphanet:474 {source="OMIM:616300"}
xref: UMLS:C4225378 {source="MONDO:equivalentTo", source="MEDGEN:898712", source="MONDO:MEDGEN"}
is_a: MONDO:0018770 {source="DOID:0110093", source="OMIM:616300"} ! Jeune syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26690 {source="MONDO:mim2gene_medgen"} ! CEP120

[Term]
id: MONDO:0014578
name: congenital myasthenic syndrome 17
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16080", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS17" EXACT ABBREVIATION [DOID:0110674, MONDO:Lexical, OMIM:616304]
synonym: "congenital myasthenic syndrome caused by mutation in LRP4" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 17" EXACT [DOID:0110674, MONDORULE:2]
synonym: "LRP4 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myasthenic syndrome, congenital, 17" RELATED [MONDO:Lexical, OMIM:616304]
synonym: "myasthenic syndrome, congenital, type 17" EXACT [MONDORULE:2, OMIM:616304]
xref: DOID:0110674 {source="MONDO:equivalentTo"}
xref: GARD:16080 {source="MONDO:GARD"}
xref: MEDGEN:895078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616304 {source="MONDO:equivalentTo", source="DOID:0110674"}
xref: Orphanet:590 {source="OMIM:616304"}
xref: UMLS:C4225377 {source="MEDGEN:895078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110674", source="MONDO:Redundant", source="OMIM:616304"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 ! LRP4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6696 {source="MONDO:mim2gene_medgen"} ! LRP4

[Term]
id: MONDO:0014579
name: Senior-Loken syndrome 8
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16081", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SENIOR-Loken syndrome 8" RELATED [OMIM:616307]
synonym: "Senior-Loken syndrome 8" EXACT [MONDO:Lexical, OMIM:616307]
synonym: "Senior-Loken syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 8" EXACT [MONDORULE:1, OMIM:616307]
synonym: "SLSN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616307]
synonym: "WDR19 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16081 {source="MONDO:GARD"}
xref: MEDGEN:905171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616307 {source="MONDO:equivalentTo"}
xref: Orphanet:3156 {source="OMIM:616307"}
xref: UMLS:C4225376 {source="MEDGEN:905171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017842 {source="DC-OMIM:616307", source="MONDO:Redundant", source="OMIM:616307"} ! Senior-Loken syndrome
intersection_of: MONDO:0017842 ! Senior-Loken syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 ! WDR19
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616307"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 {source="MONDO:mim2gene_medgen"} ! WDR19

[Term]
id: MONDO:0014580
name: intellectual disability, autosomal dominant 33
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16082", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 33" EXACT [DOID:0070063]
synonym: "autosomal dominant mental retardation 33" EXACT DEPRECATED [DOID:0070063]
synonym: "autosomal dominant non-syndromic intellectual disability 33" RELATED [DOID:0070063]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6" EXACT [MONDO:design_pattern]
synonym: "DPP6 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 33" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616311]
synonym: "intellectual disability, autosomal dominant type 33" EXACT [MONDORULE:2, OMIM:616311]
synonym: "mental retardation, autosomal dominant 33" RELATED DEPRECATED [MONDO:Lexical, OMIM:616311]
synonym: "mental retardation, autosomal dominant type 33" EXACT DEPRECATED [MONDORULE:2, OMIM:616311]
synonym: "MRD33" EXACT ABBREVIATION [DOID:0070063, MONDO:Lexical, OMIM:616311]
xref: DOID:0070063 {source="MONDO:equivalentTo"}
xref: GARD:16082 {source="MONDO:GARD"}
xref: MEDGEN:899389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616311 {source="MONDO:equivalentTo", source="DOID:0070063"}
xref: Orphanet:2514 {source="MONDO:relatedTo", source="OMIM:616311"}
xref: UMLS:C4225375 {source="MEDGEN:899389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="DOID:0070063", source="MONDO:Redundant", source="OMIM:616311"} ! autosomal dominant non-syndromic intellectual disability
intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3010 ! DPP6
relationship: excluded_subClassOf MONDO:0007988 {source="Orphanet:2514/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant primary microcephaly
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3010 {source="MONDO:mim2gene_medgen"} ! DPP6

[Term]
id: MONDO:0014581
name: congenital myasthenic syndrome 2A
def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13." [DOID:0110681, PMID:25792100, PMID:8872460]
subset: gard_rare {source="GARD:9895", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS IIa" RELATED [GARD:0009895]
synonym: "CMS2A" EXACT ABBREVIATION [DOID:0110681, GARD:0009895, MONDO:Lexical, OMIM:616313]
synonym: "congenital myasthenic syndrome 2A slow-channel" EXACT [DOID:0110681]
synonym: "congenital myasthenic syndrome type 2A" EXACT [DOID:0110681, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 2A, slow-channel" RELATED [MONDO:Lexical, OMIM:616313]
synonym: "myasthenic syndrome, congenital, postsynaptic slow-channel" RELATED [GARD:0009895]
synonym: "myasthenic syndrome, congenital, slow-channel" RELATED [GARD:0009895]
synonym: "myasthenic syndrome, congenital, type IIa" RELATED [GARD:0009895]
synonym: "SCCMS" RELATED ABBREVIATION [GARD:0009895]
synonym: "slow channel congenital myasthenic syndrome" RELATED [GARD:0009895]
xref: DOID:0110681 {source="MONDO:equivalentTo"}
xref: GARD:9895 {source="MONDO:GARD"}
xref: MEDGEN:908185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616313 {source="MONDO:equivalentTo", source="DOID:0110681"}
xref: Orphanet:590 {source="OMIM:616313"}
xref: UMLS:C4225374 {source="MEDGEN:908185", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110681", source="MONDO:Redundant", source="OMIM:616313"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1961 {source="MONDO:mim2gene_medgen"} ! CHRNB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014582
name: congenital myasthenic syndrome 2C
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13." [DOID:0110680, PMID:10562302, PMID:25792100]
subset: gard_rare {source="GARD:16083", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS2C" EXACT ABBREVIATION [DOID:0110680, MONDO:Lexical, OMIM:616314]
synonym: "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency" EXACT [DOID:0110680]
synonym: "congenital myasthenic syndrome type 2C" EXACT [DOID:0110680, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616314]
xref: DOID:0110680 {source="MONDO:equivalentTo"}
xref: GARD:16083 {source="MONDO:GARD"}
xref: MEDGEN:903254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616314 {source="MONDO:equivalentTo", source="DOID:0110680"}
xref: Orphanet:590 {source="OMIM:616314"}
xref: UMLS:C4225373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903254"}
is_a: MONDO:0018940 {source="DOID:0110680", source="MONDO:Redundant", source="OMIM:616314"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1961 {source="MONDO:mim2gene_medgen"} ! CHRNB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014583
name: congenital myasthenic syndrome 3A
def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110666, PMID:11782989, PMID:25792100]
subset: gard_rare {source="GARD:16084", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS3A" EXACT ABBREVIATION [DOID:0110666, MONDO:Lexical, OMIM:616321]
synonym: "congenital myasthenic syndrome 3A, slow-channel" EXACT [DOID:0110666]
synonym: "congenital myasthenic syndrome type 3A" EXACT [DOID:0110666, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 3A, slow-channel" RELATED [MONDO:Lexical, OMIM:616321]
xref: DOID:0110666 {source="MONDO:equivalentTo"}
xref: GARD:16084 {source="MONDO:GARD"}
xref: MEDGEN:898378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616321 {source="DOID:0110666", source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:616321"}
xref: Orphanet:98913 {source="OMIM:616321"}
xref: UMLS:C4225372 {source="MEDGEN:898378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110666", source="MONDO:Redundant", source="OMIM:616321"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1965 {source="MONDO:mim2gene_medgen"} ! CHRND
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014584
name: congenital myasthenic syndrome 3B
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110665, PMID:11435464, PMID:25792100]
subset: gard_rare {source="GARD:16085", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS3B" EXACT ABBREVIATION [DOID:0110665, MONDO:Lexical, OMIM:616322]
synonym: "congenital myasthenic syndrome 3B, fast-channel" EXACT [DOID:0110665]
synonym: "congenital myasthenic syndrome type 3B" EXACT [DOID:0110665, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 3B, FAST-channel" RELATED [MONDO:Lexical, OMIM:616322]
xref: DOID:0110665 {source="MONDO:equivalentTo"}
xref: GARD:16085 {source="MONDO:GARD"}
xref: MEDGEN:909404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616322 {source="DOID:0110665", source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:616322"}
xref: Orphanet:98913 {source="OMIM:616322"}
xref: UMLS:C4225371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909404"}
is_a: MONDO:0018940 {source="DOID:0110665", source="MONDO:Redundant", source="OMIM:616322"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1965 {source="MONDO:mim2gene_medgen"} ! CHRND
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014585
name: congenital myasthenic syndrome 3C
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37." [DOID:0110664, PMID:16916845]
subset: gard_rare {source="GARD:16086", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS3C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616323]
synonym: "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT [DOID:0110664]
synonym: "congenital myasthenic syndrome type 3C" EXACT [DOID:0110664, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616323]
xref: DOID:0110664 {source="MONDO:equivalentTo"}
xref: GARD:16086 {source="MONDO:GARD"}
xref: MEDGEN:903088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616323 {source="MONDO:equivalentTo", source="DOID:0110664"}
xref: Orphanet:590 {source="OMIM:616323"}
xref: Orphanet:98913 {source="OMIM:616323"}
xref: UMLS:C4225370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903088"}
is_a: MONDO:0018940 {source="DOID:0110664", source="MONDO:Redundant", source="OMIM:616323"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1965 {source="MONDO:mim2gene_medgen"} ! CHRND
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014586
name: congenital myasthenic syndrome 4B
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [DOID:0110677, PMID:25792100, PMID:8755487]
subset: gard_rare {source="GARD:16087", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS4B" EXACT ABBREVIATION [DOID:0110677, MONDO:Lexical, OMIM:616324]
synonym: "congenital myasthenic syndrome 4B fast-channel" EXACT [DOID:0110677]
synonym: "congenital myasthenic syndrome type 4B" EXACT [DOID:0110677, MONDORULE:4]
synonym: "myasthenic syndrome, congenital, 4B, FAST-channel" RELATED [MONDO:Lexical, OMIM:616324]
xref: DOID:0110677 {source="MONDO:equivalentTo"}
xref: GARD:16087 {source="MONDO:GARD"}
xref: MEDGEN:904424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616324 {source="DOID:0110677", source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:616324"}
xref: UMLS:C4225369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904424"}
is_a: MONDO:0018940 {source="DOID:0110677", source="MONDO:Redundant", source="OMIM:616324"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="MONDO:Redundant", source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1966 {source="MONDO:mim2gene_medgen"} ! CHRNE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014587
name: congenital myasthenic syndrome 9
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16088", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS9" EXACT ABBREVIATION [DOID:0110670, MONDO:Lexical, OMIM:616325]
synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT [DOID:0110670]
synonym: "congenital myasthenic syndrome caused by mutation in MUSK" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 9" EXACT [DOID:0110670, MONDORULE:1]
synonym: "MUSK congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616325]
xref: DOID:0110670 {source="MONDO:equivalentTo"}
xref: GARD:16088 {source="MONDO:GARD"}
xref: MEDGEN:895641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616325 {source="MONDO:equivalentTo", source="DOID:0110670"}
xref: Orphanet:590 {source="OMIM:616325"}
xref: UMLS:C4225368 {source="MEDGEN:895641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110670", source="MONDO:Redundant", source="OMIM:616325"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7525 ! MUSK
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7525 {source="MONDO:mim2gene_medgen"} ! MUSK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014588
name: congenital myasthenic syndrome 11
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16089", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS Ie" EXACT [DOID:0110675]
synonym: "Cms Ie" RELATED [OMIM:616326]
synonym: "Cms Ie, formerly" RELATED [OMIM:616326]
synonym: "CMS11" EXACT ABBREVIATION [DOID:0110675, MONDO:Lexical, OMIM:616326]
synonym: "CMS1E" EXACT ABBREVIATION [DOID:0110675]
synonym: "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT [DOID:0110675]
synonym: "congenital myasthenic syndrome 1e" EXACT [DOID:0110675]
synonym: "congenital myasthenic syndrome caused by mutation in RAPSN" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 11" EXACT [DOID:0110675, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616326]
synonym: "myasthenic syndrome, congenital, Ie" RELATED [OMIM:616326]
synonym: "myasthenic syndrome, congenital, Ie, formerly" RELATED [OMIM:616326]
synonym: "RAPSN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110675 {source="MONDO:equivalentTo"}
xref: GARD:16089 {source="MONDO:GARD"}
xref: MEDGEN:902189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563831 {source="MONDO:equivalentTo"}
xref: OMIM:616326 {source="MONDO:equivalentTo", source="DOID:0110675"}
xref: Orphanet:590 {source="OMIM:616326"}
xref: UMLS:C4225367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902189"}
is_a: MONDO:0018940 {source="DOID:0110675", source="MESH:C563831", source="MONDO:Redundant", source="OMIM:616326"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9863 ! RAPSN
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9863 {source="MONDO:mim2gene_medgen"} ! RAPSN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014589
name: maturity-onset diabetes of the young type 13
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16090", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "KCNJ11 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11" EXACT []
synonym: "maturity-onset diabetes of the young, type 13" RELATED [MONDO:Lexical, OMIM:616329]
synonym: "MODY type 13" EXACT [DOID:0111110]
synonym: "MODY, type 13" RELATED [OMIM:616329]
synonym: "MODY13" EXACT ABBREVIATION [DOID:0111110, MONDO:Lexical, OMIM:616329]
xref: DOID:0111110 {source="MONDO:equivalentTo"}
xref: GARD:16090 {source="MONDO:GARD"}
xref: MEDGEN:897640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616329 {source="MONDO:equivalentTo", source="DOID:0111110"}
xref: UMLS:C4225365 {source="MEDGEN:897640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018911 {source="DC-OMIM:616329", source="DOID:0111110", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 ! KCNJ11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6257 {source="MONDO:mim2gene_medgen"} ! KCNJ11

[Term]
id: MONDO:0014590
name: congenital myasthenic syndrome 18
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16091", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS18" EXACT ABBREVIATION [DOID:0110683, MONDO:Lexical, OMIM:616330]
synonym: "congenital myasthenic syndrome caused by mutation in SNAP25" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 18" EXACT [DOID:0110683, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 18" RELATED [MONDO:Lexical, OMIM:616330]
synonym: "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" RELATED [OMIM:616330]
synonym: "myasthenic syndrome, congenital, type 18" EXACT [MONDORULE:2, OMIM:616330]
synonym: "SNAP25 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110683 {source="MONDO:equivalentTo"}
xref: GARD:16091 {source="MONDO:GARD"}
xref: MEDGEN:906793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616330 {source="MONDO:equivalentTo", source="DOID:0110683"}
xref: Orphanet:590 {source="OMIM:616330"}
xref: Orphanet:98914 {source="OMIM:616330"}
xref: UMLS:C4225364 {source="MEDGEN:906793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110683", source="MONDO:Redundant", source="OMIM:616330"} ! congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11132 ! SNAP25
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11132 {source="MONDO:mim2gene_medgen"} ! SNAP25
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014591
name: autosomal dominant Robinow syndrome 2
def: "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18548", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Robinow syndrome caused by mutation in DVL1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant Robinow syndrome type 2" EXACT [DOID:0060765, MONDORULE:1]
synonym: "DRS2" EXACT ABBREVIATION [DOID:0060765, MONDO:Lexical, OMIM:616331]
synonym: "DVL1 autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Robinow syndrome, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:616331]
synonym: "Robinow syndrome, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616331]
xref: DOID:0060765 {source="MONDO:equivalentTo"}
xref: GARD:18548 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="DOID:0060765"}
xref: MEDGEN:897039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616331 {source="DOID:0060765", source="MONDO:equivalentTo"}
xref: Orphanet:3107 {source="DOID:0060765", source="OMIM:616331"}
xref: Orphanet:97360 {source="DOID:0060765", source="OMIM:616331"}
xref: UMLS:C4225363 {source="MEDGEN:897039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008389 {source="MONDO:Redundant", source="Orphanet:3107/btnt"} ! autosomal dominant Robinow syndrome
is_a: MONDO:0019978 {source="DOID:0060765", source="MONDO:Redundant", source="OMIM:616331"} ! Robinow syndrome
intersection_of: MONDO:0008389 ! autosomal dominant Robinow syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3084 ! DVL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3084 {source="MONDO:mim2gene_medgen"} ! DVL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014592
name: microcephaly and chorioretinopathy 3
def: "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18482", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCCRP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616335]
synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP4" EXACT [MONDO:design_pattern]
synonym: "microcephaly and chorioretinopathy type 3" EXACT [DOID:0080107, MONDORULE:1]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:616335]
synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 3" EXACT [MONDORULE:1, OMIM:616335]
synonym: "TUBGCP4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080107 {source="MONDO:equivalentTo"}
xref: GARD:18482 {source="MONDO:GARD"}
xref: MEDGEN:902924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616335 {source="MONDO:equivalentTo", source="DOID:0080107"}
xref: Orphanet:2518 {source="OMIM:616335"}
xref: UMLS:C4225362 {source="MEDGEN:902924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000181 {source="MONDO:Redundant", source="OMIM:616335"} ! microcephaly and chorioretinopathy
intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16691 ! TUBGCP4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16691 {source="MONDO:mim2gene_medgen"} ! TUBGCP4

[Term]
id: MONDO:0014593
name: developmental and epileptic encephalopathy, 29
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16092", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AARS early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DEE29" EXACT ABBREVIATION [OMIM:616339]
synonym: "developmental and epileptic encephalopathy 29" EXACT [OMIM:616339, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in AARS" EXACT [MONDO:design_pattern]
synonym: "EIEE29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616339]
synonym: "epileptic encephalopathy, early infantile, 29" EXACT [MONDO:Lexical, OMIM:616339]
synonym: "epileptic encephalopathy, early infantile, type 29" EXACT [MONDORULE:2, OMIM:616339]
xref: DOID:0080451 {source="MONDO:equivalentTo"}
xref: GARD:16092 {source="MONDO:GARD"}
xref: MEDGEN:908570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616339 {source="MONDO:equivalentTo"}
xref: UMLS:C4225361 {source="MEDGEN:908570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:616339", source="MONDO:Redundant", source="OMIM:616339"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20 ! AARS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20 {source="MONDO:mim2gene_medgen"} ! AARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014594
name: autosomal dominant nonsyndromic hearing loss 67
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18141", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 67" NARROW [DOID:0110588]
synonym: "autosomal dominant nonsyndromic deafness 67" NARROW [OMIM:616340]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 67" NARROW [DOID:0110588, MONDORULE:2]
synonym: "deafness, autosomal dominant 67" NARROW [MONDO:Lexical, OMIM:616340, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 67" NARROW [MONDORULE:2, OMIM:616340]
synonym: "DFNA67" NARROW ABBREVIATION [DOID:0110588, MONDO:Lexical, OMIM:616340]
synonym: "OSBPL2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110588 {source="MONDO:equivalentTo"}
xref: GARD:18141 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110588"}
xref: MEDGEN:900413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616340 {source="DOID:0110588", source="MONDO:equivalentTo"}
xref: UMLS:C4084712 {source="MEDGEN:900413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:616340", source="DOID:0110588", source="MONDO:Redundant", source="OMIM:616340"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15761 ! OSBPL2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15761 {source="MONDO:mim2gene_medgen"} ! OSBPL2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014595
name: developmental and epileptic encephalopathy, 30
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16093", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE30" EXACT ABBREVIATION [OMIM:616341]
synonym: "developmental and epileptic encephalopathy 30" EXACT [OMIM:616341, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in SIK1" EXACT [MONDO:design_pattern]
synonym: "EIEE30" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616341]
synonym: "epileptic encephalopathy, early infantile, 30" EXACT [MONDO:Lexical, OMIM:616341]
synonym: "epileptic encephalopathy, early infantile, type 30" EXACT [MONDORULE:2, OMIM:616341]
synonym: "SIK1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080465 {source="MONDO:equivalentTo"}
xref: GARD:16093 {source="MONDO:GARD"}
xref: MEDGEN:898954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616341 {source="MONDO:equivalentTo"}
xref: Orphanet:1935 {source="OMIM:616341"}
xref: Orphanet:3451 {source="OMIM:616341"}
xref: UMLS:C4225360 {source="MONDO:equivalentTo", source="MEDGEN:898954", source="MONDO:MEDGEN"}
is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy
is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome
is_a: MONDO:0100062 {source="DC-OMIM:616341", source="MONDO:Redundant", source="OMIM:616341"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11142 ! SIK1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11142 {source="MONDO:mim2gene_medgen"} ! SIK1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014596
name: lissencephaly 7 with cerebellar hypoplasia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LIS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616342]
synonym: "lissencephaly 7 with cerebellar hypoplasia" EXACT [MONDO:Lexical, OMIM:616342]
xref: DOID:0112231 {source="MONDO:equivalentTo"}
xref: MEDGEN:895680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616342 {source="MONDO:equivalentTo"}
xref: UMLS:C4225359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895680"}
is_a: MONDO:0018838 {source="DC-OMIM:616342", source="OMIM:616342"} ! lissencephaly spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1774 {source="MONDO:mim2gene_medgen"} ! CDK5

[Term]
id: MONDO:0014597
name: immunodeficiency 39
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "IMD39" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616345]
synonym: "immunodeficiency 39" EXACT [MONDO:Lexical, OMIM:616345]
synonym: "immunodeficiency type 39" EXACT [MONDORULE:2, OMIM:616345]
synonym: "IRF7 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary immunodeficiency disease caused by mutation in IRF7" EXACT [MONDO:design_pattern]
xref: DOID:0111969 {source="MONDO:equivalentTo"}
xref: MEDGEN:904167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616345 {source="MONDO:equivalentTo"}
xref: UMLS:C4225358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904167"}
is_a: MONDO:0003778 {source="DC-OMIM:616345", source="MONDO:Redundant"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0003778 ! inborn error of immunity
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6122 ! IRF7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6122 {source="MONDO:mim2gene_medgen"} ! IRF7

[Term]
id: MONDO:0014598
name: developmental and epileptic encephalopathy, 31A
def: "Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene." [https://orcid.org/0000-0002-0587-4693, MONDO:patterns/disease_series_by_gene, OMIM:616346]
subset: gard_rare {source="GARD:16094", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE31" BROAD ABBREVIATION [OMIM:616346]
synonym: "DEE31A" EXACT [OMIM:616346]
synonym: "developmental and epileptic encephalopathy 31" BROAD [OMIM:616346, OMIM:genemap2]
synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [https://orcid.org/0000-0001-9310-0163]
synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163]
synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" EXACT [MONDO:design_pattern]
synonym: "EIEE31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616346]
synonym: "epileptic encephalopathy, early infantile, 31" EXACT [MONDO:Lexical, OMIM:616346]
synonym: "epileptic encephalopathy, early infantile, type 31" EXACT [MONDORULE:2, OMIM:616346]
xref: DOID:0080437 {source="MONDO:equivalentTo"}
xref: GARD:16094 {source="MONDO:GARD"}
xref: MEDGEN:894942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616346 {source="MONDO:equivalentTo"}
xref: Orphanet:2382 {source="OMIM:616346"}
xref: UMLS:C4225357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894942"}
is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:616346", source="MONDO:Redundant", source="OMIM:616346"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2972 {source="MONDO:mim2gene_medgen"} ! DNM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7641" xsd:anyURI

[Term]
id: MONDO:0014599
name: intellectual disability, autosomal dominant 34
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 34" EXACT [DOID:0070064]
synonym: "autosomal dominant mental retardation 34" EXACT DEPRECATED [DOID:0070064]
synonym: "autosomal dominant non-syndromic intellectual disability 34" RELATED [DOID:0070064]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP" EXACT [MONDO:design_pattern]
synonym: "COL4A3BP autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal dominant 34" EXACT [OMIM:616351, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 34" EXACT [MONDO:Lexical, OMIM:616351]
synonym: "intellectual disability, autosomal dominant type 34" EXACT [MONDORULE:2, OMIM:616351]
synonym: "mental retardation, autosomal dominant 34" RELATED DEPRECATED [MONDO:Lexical, OMIM:616351]
synonym: "mental retardation, autosomal dominant type 34" EXACT DEPRECATED [MONDORULE:2, OMIM:616351]
synonym: "MRD34" EXACT ABBREVIATION [DOID:0070064, MONDO:Lexical, OMIM:616351]
xref: DOID:0070064 {source="MONDO:equivalentTo"}
xref: MEDGEN:907277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616351 {source="DOID:0070064", source="MONDO:equivalentTo"}
xref: UMLS:C4225156 {source="MEDGEN:907277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="DC-OMIM:616351", source="DOID:0070064", source="MONDO:Redundant", source="OMIM:616351"} ! autosomal dominant non-syndromic intellectual disability
intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2205 ! CERT1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2205 {source="MONDO:mim2gene_medgen"} ! CERT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014600
name: dyskeratosis congenita, autosomal recessive 6
def: "Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive dyskeratosis congenita 6" RELATED [DOID:0070024]
synonym: "DKCB6" EXACT ABBREVIATION [DOID:0070024, MONDO:Lexical, OMIM:616353]
synonym: "dyskeratosis congenita caused by mutation in PARN" EXACT [MONDO:design_pattern]
synonym: "dyskeratosis congenita, autosomal recessive 6" EXACT [MONDO:Lexical, OMIM:616353]
synonym: "dyskeratosis congenita, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:616353]
synonym: "PARN dyskeratosis congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070024 {source="MONDO:equivalentTo"}
xref: GARD:16095 {source="MONDO:GARD"}
xref: MEDGEN:905452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176929 {source="MONDO:equivalentTo"}
xref: OMIM:616353 {source="DOID:0070024", source="MONDO:equivalentTo"}
xref: Orphanet:1775 {source="OMIM:616353"}
xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:616353"}
xref: UMLS:C4225356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905452"}
is_a: MONDO:0015780 {source="DOID:0070024", source="MONDO:Redundant", source="OMIM:616353"} ! dyskeratosis congenita
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8609 ! PARN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8609 {source="MONDO:mim2gene_medgen"} ! PARN

[Term]
id: MONDO:0014601
name: autosomal recessive spinocerebellar ataxia 20
def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17636", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397709"}
subset: ordo_malformation_syndrome {source="Orphanet:397709"}
subset: orphanet_rare {source="Orphanet:397709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia caused by mutation in SNX14" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spinocerebellar ataxia type 20" EXACT [DOID:0080066, MONDORULE:2, Orphanet:397709]
synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome" EXACT [Orphanet:397709]
synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" RELATED [Orphanet:397709]
synonym: "SCAR20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616354, Orphanet:397709]
synonym: "SNX14 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spinocerebellar ataxia, autosomal recessive 20" RELATED [MONDO:Lexical, OMIM:616354]
synonym: "spinocerebellar ataxia, autosomal recessive type 20" EXACT [MONDORULE:2, OMIM:616354]
xref: DOID:0080066 {source="MONDO:equivalentTo"}
xref: GARD:17636 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:397709", source="Orphanet:397709/attributed", source="Orphanet:397709/ntbt"}
xref: MEDGEN:1684324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616354 {source="Orphanet:397709", source="DOID:0080066", source="MONDO:equivalentTo", source="Orphanet:397709/e"}
xref: Orphanet:397709 {source="MONDO:equivalentTo", source="OMIM:616354"}
xref: UMLS:C5190595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684324"}
is_a: MONDO:0015159 {source="Orphanet:397709"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015244 {source="DOID:0080066", source="MONDO:Redundant"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0020022 ! central nervous system malformation
intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14977 ! SNX14
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397709", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14977 {source="MONDO:mim2gene_medgen"} ! SNX14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014602
name: Hogue-Janssens syndrome 1
def: "An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1." [DOID:0070065]
subset: gard_rare {source="GARD:17802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457279"}
subset: ordo_malformation_syndrome {source="Orphanet:457279"}
subset: orphanet_rare {source="Orphanet:457279"}
subset: rare
synonym: "autosomal dominant intellectual disability 35" EXACT [DOID:0070065]
synonym: "autosomal dominant mental retardation 35" EXACT DEPRECATED [DOID:0070065]
synonym: "autosomal dominant non-syndromic intellectual disability 35" RELATED [DOID:0070065]
synonym: "intellectual disability, autosomal dominant 35" RELATED [MONDO:Lexical, OMIM:616355]
synonym: "intellectual disability, autosomal dominant type 35" EXACT [MONDORULE:2, OMIM:616355]
synonym: "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome" EXACT [Orphanet:457279]
synonym: "mental retardation, autosomal dominant 35" RELATED DEPRECATED [MONDO:Lexical, OMIM:616355]
synonym: "mental retardation, autosomal dominant type 35" EXACT DEPRECATED [MONDORULE:2, OMIM:616355]
synonym: "MRD35" EXACT DEPRECATED [DOID:0070065, MONDO:Lexical, OMIM:616355]
xref: DOID:0070065 {source="MONDO:equivalentTo"}
xref: GARD:17802 {source="MONDO:GARD"}
xref: MEDGEN:1830493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616355 {source="DOID:0070065", source="Orphanet:457279", source="MONDO:equivalentTo", source="Orphanet:457279/e"}
xref: Orphanet:457279 {source="MONDO:equivalentTo"}
xref: UMLS:C5779996 {source="MEDGEN:1830493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457279", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:457279"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0957553 {source="OMIM:616355"} ! Houge-Janssens syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070065", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9312 {source="MONDO:mim2gene_medgen"} ! PPP2R5D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6531" xsd:anyURI

[Term]
id: MONDO:0014603
name: autosomal dominant nonsyndromic hearing loss 40
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant deafness 40" NARROW [DOID:0110566]
synonym: "autosomal dominant nonsyndromic deafness 40" NARROW [OMIM:616357]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CRYM" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 40" NARROW [DOID:0110566, MONDORULE:2]
synonym: "autosomal dominant nonsyndromic hearing loss 40" EXACT CLINGEN_LABEL []
synonym: "CRYM autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 40" NARROW [MONDO:Lexical, OMIM:616357, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 40" NARROW [MONDORULE:2, OMIM:616357]
synonym: "DFNA40" NARROW ABBREVIATION [DOID:0110566, MONDO:Lexical, OMIM:616357]
xref: DOID:0110566 {source="MONDO:equivalentTo"}
xref: GARD:18142 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110566"}
xref: MEDGEN:896665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616357 {source="DOID:0110566", source="MONDO:equivalentTo"}
xref: UMLS:C4084708 {source="MEDGEN:896665", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:616357", source="DOID:0110566", source="MONDO:Redundant", source="OMIM:616357"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2418 ! CRYM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2418 {source="MONDO:mim2gene_medgen"} ! CRYM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014604
name: Parkinson disease 21
def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DNAJC13 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary late onset Parkinson disease caused by mutation in DNAJC13" EXACT [MONDO:design_pattern]
synonym: "PARK21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616361]
synonym: "Parkinson disease 21" EXACT [MONDO:Lexical, OMIM:616361]
synonym: "Parkinson disease type 21" EXACT [MONDORULE:2, OMIM:616361]
xref: DOID:0111251 {source="MONDO:equivalentTo"}
xref: GARD:18480 {source="MONDO:GARD"}
xref: MEDGEN:903105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616361 {source="MONDO:equivalentTo"}
xref: Orphanet:411602 {source="OMIM:616361"}
xref: UMLS:C4225353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903105"}
is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:616361"} ! Parkinson disease
is_a: MONDO:0008199 {source="MONDO:Redundant", source="Orphanet:411602/btnt"} ! late-onset Parkinson disease
intersection_of: MONDO:0008199 ! late-onset Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30343 ! DNAJC13
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30343 {source="MONDO:mim2gene_medgen"} ! DNAJC13

[Term]
id: MONDO:0014605
name: Houge-Janssens syndrome 2
subset: gard_rare {source="GARD:17803", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457284"}
subset: ordo_malformation_syndrome {source="Orphanet:457284"}
subset: orphanet_rare {source="Orphanet:457284"}
subset: rare
synonym: "autosomal dominant intellectual disability 36" EXACT [DOID:0070066]
synonym: "autosomal dominant mental retardation 36" EXACT DEPRECATED [DOID:0070066]
synonym: "autosomal dominant non-syndromic intellectual disability 36" RELATED [DOID:0070066]
synonym: "intellectual disability, autosomal dominant 36" RELATED [MONDO:Lexical, OMIM:616362]
synonym: "intellectual disability, autosomal dominant type 36" EXACT [MONDORULE:2, OMIM:616362]
synonym: "mental retardation, autosomal dominant 36" RELATED DEPRECATED [MONDO:Lexical, OMIM:616362]
synonym: "mental retardation, autosomal dominant type 36" EXACT DEPRECATED [MONDORULE:2, OMIM:616362]
synonym: "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:457284]
synonym: "MRD36" EXACT DEPRECATED [DOID:0070066, MONDO:Lexical, OMIM:616362]
xref: DOID:0070066 {source="MONDO:equivalentTo"}
xref: GARD:17803 {source="MONDO:GARD"}
xref: MEDGEN:899880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616362 {source="Orphanet:457284/e", source="DOID:0070066", source="MONDO:equivalentTo", source="Orphanet:457284"}
xref: Orphanet:457284 {source="MONDO:equivalentTo"}
xref: UMLS:C4225352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899880"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:457284"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0957553 {source="OMIM:616362"} ! Houge-Janssens syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:457284", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070066", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9302 {source="MONDO:mim2gene_medgen"} ! PPP2R1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6531" xsd:anyURI

[Term]
id: MONDO:0014606
name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
def: "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." [Orphanet:468678]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468678"}
subset: orphanet_rare {source="Orphanet:468678"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 37" EXACT [DOID:0070067]
synonym: "autosomal dominant mental retardation 37" EXACT DEPRECATED [DOID:0070067]
synonym: "intellectual disability, autosomal dominant 37" RELATED [MONDO:Lexical, OMIM:616364]
synonym: "intellectual disability, autosomal dominant type 37" EXACT [MONDORULE:2, OMIM:616364]
synonym: "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" EXACT CLINGEN_LABEL []
synonym: "mental retardation, autosomal dominant 37" RELATED DEPRECATED [MONDO:Lexical, OMIM:616364]
synonym: "mental retardation, autosomal dominant type 37" EXACT DEPRECATED [MONDORULE:2, OMIM:616364]
synonym: "MRD37" EXACT ABBREVIATION [DOID:0070067, MONDO:Lexical, OMIM:616364]
synonym: "WHITE-Sutton syndrome" RELATED [OMIM:616364]
synonym: "White-Sutton syndrome" RELATED [DOID:0070067, OMIM:616364]
synonym: "WHSUS" EXACT ABBREVIATION [DOID:0070067]
xref: DOID:0070067 {source="MONDO:equivalentTo"}
xref: GARD:13774 {source="MONDO:GARD"}
xref: MEDGEN:897984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616364 {source="DOID:0070067", source="Orphanet:468678", source="MONDO:equivalentTo"}
xref: Orphanet:468678 {source="MONDO:equivalentTo"}
xref: UMLS:C4225351 {source="MEDGEN:897984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:468678", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:468678"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070067", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18801 {source="MONDO:mim2gene_medgen"} ! POGZ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014607
name: developmental and epileptic encephalopathy, 32
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE32" EXACT ABBREVIATION []
synonym: "developmental and epileptic encephalopathy 32" EXACT [OMIM:616366, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in KCNA2" EXACT [MONDO:design_pattern]
synonym: "EIEE32" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616366]
synonym: "epileptic encephalopathy, early infantile, 32" EXACT [MONDO:Lexical, OMIM:616366]
synonym: "epileptic encephalopathy, early infantile, type 32" EXACT [MONDORULE:2, OMIM:616366]
synonym: "KCNA2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080416 {source="MONDO:equivalentTo"}
xref: GARD:16096 {source="MONDO:GARD"}
xref: MEDGEN:909501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616366 {source="MONDO:equivalentTo"}
xref: UMLS:C4225350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909501"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:616366", source="MONDO:Redundant", source="OMIM:616366"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6220 ! KCNA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6220 {source="MONDO:mim2gene_medgen"} ! KCNA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014608
name: mandibulofacial dysostosis with alopecia
def: "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." [DOID:0060365, PMID:25772936]
subset: gard_rare {source="GARD:17758", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443995"}
subset: ordo_malformation_syndrome {source="Orphanet:443995"}
subset: orphanet_rare {source="Orphanet:443995"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mandibulofacial dysostosis with alopecia" EXACT [MONDO:Lexical, OMIM:616367]
synonym: "MFDA" EXACT ABBREVIATION [DOID:0060365, MONDO:Lexical, OMIM:616367, Orphanet:443995]
xref: DOID:0060365 {source="MONDO:equivalentTo"}
xref: GARD:17758 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:443995/attributed", source="Orphanet:443995/ntbt", source="Orphanet:443995"}
xref: MEDGEN:898794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616367 {source="DOID:0060365", source="Orphanet:443995", source="MONDO:equivalentTo", source="Orphanet:443995/e"}
xref: Orphanet:443995 {source="MONDO:equivalentTo"}
xref: UMLS:C4225349 {source="MEDGEN:898794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="DOID:0060365", source="MONDO:Redundant", source="MONDO:indirect"} ! syndromic disease
is_a: MONDO:0015483 {source="Orphanet:443995"} ! mandibulofacial dysostosis
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3179 {source="MONDO:mim2gene_medgen"} ! EDNRA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0014609
name: cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
subset: gard_rare {source="GARD:12845", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444077"}
subset: ordo_malformation_syndrome {source="Orphanet:444077"}
subset: orphanet_rare {source="Orphanet:444077"}
subset: rare
synonym: "CHOPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616368]
synonym: "CHOPS syndrome" EXACT [MONDO:Lexical, OMIM:616368, Orphanet:444077]
synonym: "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" RELATED [OMIM:616368]
xref: GARD:12845 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:444077/attributed", source="Orphanet:444077/ntbt", source="Orphanet:444077"}
xref: MEDGEN:894554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616368 {source="Orphanet:444077/e", source="MONDO:equivalentTo", source="Orphanet:444077"}
xref: Orphanet:444077 {source="MONDO:equivalentTo"}
xref: SCTID:764455002 {source="MONDO:equivalentTo"}
xref: UMLS:C4085597 {source="MONDO:equivalentTo", source="MEDGEN:894554", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:444077"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:444077", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005267 {source="MONDO:0015506-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:444077", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: excluded_subClassOf MONDO:0019054 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital limb malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17869 {source="MONDO:mim2gene_medgen"} ! AFF4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014610
name: obsolete ciliary dyskinesia, primary, 31
synonym: "moved to 243605" RELATED [OMIM:616369]
is_obsolete: true
replaced_by: MONDO:0009477

[Term]
id: MONDO:0014611
name: multiple mitochondrial dysfunctions syndrome 4
def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17809", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457406"}
subset: orphanet_rare {source="Orphanet:457406"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2" EXACT [MONDO:design_pattern]
synonym: "ISCA2 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MMDS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616370]
synonym: "multiple mitochondrial dysfunctions syndrome 4" EXACT [MONDO:Lexical, OMIM:616370]
synonym: "multiple mitochondrial dysfunctions syndrome type 4" EXACT [DOID:0080136, MONDORULE:1, OMIM:616370]
xref: DOID:0080136 {source="MONDO:equivalentTo"}
xref: GARD:17809 {source="MONDO:GARD"}
xref: MEDGEN:899010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616370 {source="DOID:0080136", source="MONDO:equivalentTo", source="Orphanet:457406", source="Orphanet:457406/e"}
xref: Orphanet:457406 {source="MONDO:equivalentTo"}
xref: UMLS:C4225348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899010"}
is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disorder
is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:616370", source="Orphanet:457406"} ! fatal multiple mitochondrial dysfunctions syndrome
is_a: MONDO:0019046 {source="Orphanet:457406"} ! leukodystrophy
intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19857 ! ISCA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19857 {source="MONDO:mim2gene_medgen"} ! ISCA2

[Term]
id: MONDO:0014612
name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16097", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PFBMFT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616371]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN" EXACT [MONDO:design_pattern]
synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4" RELATED [OMIM:616371]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" EXACT [MONDO:Lexical, OMIM:616371]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4" EXACT [MONDORULE:1, OMIM:616371]
xref: GARD:16097 {source="MONDO:GARD"}
xref: MEDGEN:903928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616371 {source="MONDO:equivalentTo"}
xref: Orphanet:2032 {source="OMIM:616371"}
xref: UMLS:C4225347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903928"}
is_a: MONDO:0000148 {source="DC-OMIM:616371", source="OMIM:616371"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8609 ! PARN
relationship: excluded_subClassOf MONDO:0008345 {source="Orphanet:2032/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete idiopathic pulmonary fibrosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8609 {source="MONDO:mim2gene_medgen"} ! PARN

[Term]
id: MONDO:0014613
name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16098", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PFBMFT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616373]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1" EXACT [MONDO:design_pattern]
synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3" RELATED [OMIM:616373]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" EXACT [MONDO:Lexical, OMIM:616373]
synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3" EXACT [MONDORULE:1, OMIM:616373]
synonym: "RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16098 {source="MONDO:GARD"}
xref: MEDGEN:901644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616373 {source="MONDO:equivalentTo"}
xref: Orphanet:2032 {source="OMIM:616373"}
xref: UMLS:C4225346 {source="MEDGEN:901644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000148 {source="DC-OMIM:616373", source="OMIM:616373"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
is_a: MONDO:0800467 {source="PMID:20301779", source="https://clinicalgenome.org/affiliation/40060/"} ! dyskeratosis congenita and related telomere biology disorder
intersection_of: MONDO:0000148 ! pulmonary fibrosis and/or bone marrow failure, telomere-related
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15888 ! RTEL1
relationship: excluded_subClassOf MONDO:0008345 {source="Orphanet:2032/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete idiopathic pulmonary fibrosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15888 {source="MONDO:mim2gene_medgen"} ! RTEL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0014614
name: congenital stationary night blindness 1G
def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21." [DOID:0110714, PMID:22190596]
subset: gard_rare {source="GARD:16099", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness type 1G" EXACT [DOID:0110714, MONDORULE:4]
synonym: "CSNB1G" EXACT ABBREVIATION [DOID:0110714, MONDO:Lexical, OMIM:616389]
synonym: "night blindness, congenital stationary, type 1G" RELATED [MONDO:Lexical, OMIM:616389]
xref: DOID:0110714 {source="MONDO:equivalentTo"}
xref: GARD:16099 {source="MONDO:GARD"}
xref: MEDGEN:906532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616389 {source="DOID:0110714", source="MONDO:equivalentTo"}
xref: Orphanet:215 {source="OMIM:616389"}
xref: UMLS:C4225345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906532"}
is_a: MONDO:0016293 {source="DC-OMIM:616389", source="DOID:0110714", source="MONDO:Redundant", source="OMIM:616389"} ! congenital stationary night blindness
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4393 ! GNAT1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4393 {source="MONDO:mim2gene_medgen"} ! GNAT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014615
name: trichothiodystrophy 2, photosensitive
subset: gard_rare {source="GARD:16100", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "trichothiodystrophy 2, photosensitive" EXACT [MONDO:Lexical, OMIM:616390]
synonym: "TTD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616390]
xref: DOID:0111869 {source="MONDO:equivalentTo"}
xref: GARD:16100 {source="MONDO:GARD"}
xref: MEDGEN:905904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173103 {source="MONDO:equivalentTo"}
xref: OMIM:616390 {source="MONDO:equivalentTo"}
xref: UMLS:C4225344 {source="MEDGEN:905904", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002470 {source="DC-OMIM:616390", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy
is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:616390"} ! trichothiodystrophy
intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 ! ERCC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 {source="MONDO:mim2gene_medgen"} ! ERCC3

[Term]
id: MONDO:0014616
name: obsolete Skint1-like pseudogene
comment: Reason: out of scope. Term to consider: none
synonym: "SKINT1-like pseudogene" RELATED [OMIM:616392]
synonym: "Skint1-like pseudogene" EXACT [MONDO:Lexical, OMIM:616392]
synonym: "Skint1L" RELATED [OMIM:616392]
synonym: "SKINTL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616392]
synonym: "Skintp" RELATED [OMIM:616392]
xref: OMIM:616392 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4504" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0014617
name: intellectual disability, autosomal dominant 38
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16469", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 38" EXACT [DOID:0070068]
synonym: "autosomal dominant mental retardation 38" EXACT DEPRECATED [DOID:0070068]
synonym: "autosomal dominant non-syndromic intellectual disability 38" RELATED [DOID:0070068]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2" EXACT [MONDO:design_pattern]
synonym: "EEF1A2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 38" EXACT [MONDO:Lexical, OMIM:616393]
synonym: "intellectual disability, autosomal dominant type 38" EXACT [MONDORULE:2, OMIM:616393]
synonym: "mental retardation, autosomal dominant 38" RELATED DEPRECATED [MONDO:Lexical, OMIM:616393]
synonym: "mental retardation, autosomal dominant type 38" EXACT DEPRECATED [MONDORULE:2, OMIM:616393]
synonym: "MRD38" EXACT ABBREVIATION [DOID:0070068, MONDO:Lexical, OMIM:616393]
synonym: "PRELDS" EXACT ABBREVIATION [DOID:0070068]
synonym: "psychomotor retardation, epilepsy, and language disability syndrome" EXACT [DOID:0070068, OMIM:616393]
xref: DOID:0070068 {source="MONDO:equivalentTo"}
xref: GARD:16469 {source="MONDO:GARD"}
xref: MEDGEN:895359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616393 {source="DOID:0070068", source="MONDO:equivalentTo"}
xref: UMLS:C4225343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895359"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:616393"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3192 ! EEF1A2
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3192 {source="MONDO:mim2gene_medgen"} ! EEF1A2

[Term]
id: MONDO:0014618
name: retinitis pigmentosa 71
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16101", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IFT172 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 71" EXACT [MONDO:Lexical, OMIM:616394]
synonym: "retinitis pigmentosa caused by mutation in IFT172" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 71" EXACT [DOID:0110363, MONDORULE:2, OMIM:616394]
synonym: "RP71" EXACT ABBREVIATION [DOID:0110363, MONDO:Lexical, OMIM:616394]
xref: DOID:0110363 {source="MONDO:equivalentTo"}
xref: GARD:16101 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110363"}
xref: MEDGEN:897209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616394 {source="MONDO:equivalentTo", source="DOID:0110363"}
xref: UMLS:C4225342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897209"}
is_a: MONDO:0019200 {source="DC-OMIM:616394", source="DOID:0110363", source="MONDO:Redundant", source="OMIM:616394"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30391 ! IFT172
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30391 {source="MONDO:mim2gene_medgen"} ! IFT172

[Term]
id: MONDO:0014619
name: trichothiodystrophy 3, photosensitive
subset: gard_rare {source="GARD:16102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "trichothiodystrophy 3, photosensitive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616395]
synonym: "trichothiodystrophy, complementation group A" RELATED [OMIM:616395]
synonym: "TTD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616395]
xref: DOID:0111871 {source="MONDO:equivalentTo"}
xref: GARD:16102 {source="MONDO:GARD"}
xref: MEDGEN:865608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173099 {source="MONDO:equivalentTo"}
xref: OMIM:616395 {source="MONDO:equivalentTo"}
xref: UMLS:C4017171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:865608"}
is_a: MONDO:0002470 {source="DC-OMIM:616395", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy
is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:616395"} ! trichothiodystrophy
intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21157 ! GTF2H5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21157 {source="MONDO:mim2gene_medgen"} ! GTF2H5

[Term]
id: MONDO:0014620
name: myoclonic dystonia 26
def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 26, myoclonic" RELATED [MONDO:Lexical, OMIM:616398]
synonym: "DYT26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616398]
synonym: "KCTD17 myoclonus-dystonia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "myoclonic dystonia type 26" EXACT [DOID:0090036, MONDORULE:2]
synonym: "myoclonus-dystonia syndrome caused by mutation in KCTD17" EXACT [MONDO:design_pattern]
xref: DOID:0090036 {source="MONDO:equivalentTo"}
xref: GARD:16103 {source="MONDO:GARD"}
xref: MEDGEN:904244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616398 {source="DOID:0090036", source="MONDO:equivalentTo"}
xref: UMLS:C4225341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904244"}
is_a: MONDO:0000903 {source="DOID:0090036", source="MONDO:Redundant"} ! myoclonus-dystonia syndrome
is_a: MONDO:0044807 {source="DOID:0090036/inferred", source="MONDO:Redundant", source="OMIM:616398"} ! inherited dystonia
intersection_of: MONDO:0000903 ! myoclonus-dystonia syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25705 ! KCTD17
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25705 {source="MONDO:mim2gene_medgen"} ! KCTD17

[Term]
id: MONDO:0014621
name: Brugada syndrome 9
def: "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16104", source="MONDO:GARD"}
subset: rare
synonym: "BRGDA9" EXACT ABBREVIATION [DOID:0110226, MONDO:Lexical, OMIM:616399]
synonym: "Brugada syndrome 9" EXACT [MONDO:Lexical, OMIM:616399]
synonym: "Brugada syndrome caused by mutation in KCND3" EXACT [MONDO:design_pattern]
synonym: "Brugada syndrome type 9" EXACT [DOID:0110226, MONDORULE:1, OMIM:616399]
synonym: "KCND3 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110226 {source="MONDO:equivalentTo"}
xref: GARD:16104 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0110226"}
xref: MEDGEN:903155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616399 {source="DOID:0110226", source="MONDO:equivalentTo"}
xref: Orphanet:130 {source="OMIM:616399"}
xref: UMLS:C4225340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903155"}
is_a: MONDO:0015263 {source="DOID:0110226", source="MONDO:Redundant", source="OMIM:616399"} ! Brugada syndrome
intersection_of: MONDO:0015263 ! Brugada syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6239 ! KCND3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6239 {source="MONDO:mim2gene_medgen"} ! KCND3

[Term]
id: MONDO:0014622
name: isolated focal non-epidermolytic palmoplantar keratoderma
subset: gard_rare {source="GARD:17781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:448264"}
subset: orphanet_rare {source="Orphanet:448264"}
subset: rare
synonym: "FNEPPK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616400]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal 2" RELATED [MONDO:Lexical, OMIM:616400]
synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 2" EXACT [MONDORULE:1, OMIM:616400]
xref: DOID:0111708 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0111711 {source="MONDO:equivalentTo"}
xref: GARD:17781 {source="MONDO:GARD"}
xref: MEDGEN:895056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616400 {source="Orphanet:448264/e", source="MONDO:equivalentTo", source="Orphanet:448264"}
xref: Orphanet:448264 {source="MONDO:equivalentTo"}
xref: UMLS:C4225339 {source="MEDGEN:895056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017672 {source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma
relationship: excluded_subClassOf MONDO:0006588 {source="DC-OMIM:616400", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nonepidermolytic palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18084 {source="MONDO:mim2gene_medgen"} ! TRPV3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014623
name: microcephaly 14, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16105", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in SASS6" EXACT [MONDO:design_pattern]
synonym: "MCPH14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616402]
synonym: "microcephaly 14, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616402]
synonym: "SASS6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070279 {source="MONDO:equivalentTo"}
xref: GARD:16105 {source="MONDO:GARD"}
xref: MEDGEN:906798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616402 {source="MONDO:equivalentTo"}
xref: UMLS:C4225338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906798"}
is_a: MONDO:0016660 {source="DC-OMIM:616402", source="MONDO:Redundant", source="OMIM:616402"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25403 ! SASS6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25403 {source="MONDO:mim2gene_medgen"} ! SASS6

[Term]
id: MONDO:0014624
name: Brown syndrome
def: "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle." [https://rarediseases.org/rare-diseases/brown-syndrome/]
synonym: "Brown syndrome" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/, MONDO:Lexical, OMIM:616407]
synonym: "Brown tendon sheath syndrome" EXACT [DOID:10235]
synonym: "Brown's (tendon) sheath syndrome" EXACT [DOID:10235, ICD9CM:378.61]
synonym: "Brown's sheath syndrome" EXACT [DOID:10235]
synonym: "Brown's tendon sheath syndrome" EXACT [MONDO:0000982]
synonym: "BRWNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616407]
synonym: "superior oblique tendon sheath syndrome" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/]
synonym: "tendon sheath adherence, Superior oblique" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/]
xref: DOID:10235 {source="MONDO:equivalentTo"}
xref: ICD10CM:H50.61 {source="DOID:10235"}
xref: ICD9:378.61 {source="DOID:10235", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015835 {source="DOID:10235"}
xref: OMIM:616407 {source="MONDO:equivalentTo"}
xref: SCTID:35929003 {source="DOID:10235", source="MONDO:equivalentTo"}
xref: UMLS:C0155339 {source="MEDGEN:102332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004753 {source="DOID:10235"} ! mechanical strabismus

[Term]
id: MONDO:0014625
name: developmental and epileptic encephalopathy, 33
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16106", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:111336"}
subset: rare
synonym: "DEE33" EXACT ABBREVIATION [OMIM:616366]
synonym: "developmental and epileptic encephalopathy 33" EXACT [OMIM:616409, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in EEF1A2" EXACT [MONDO:design_pattern]
synonym: "EEF1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EEF1A2-Related Neurodevelopmental Disorder" EXACT [NORD:111336]
synonym: "EEF1A2-related neurodevelopmental disorder" EXACT [NORD:111336]
synonym: "EIEE33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616409]
synonym: "epileptic encephalopathy, early infantile, 33" EXACT [MONDO:Lexical, OMIM:616409]
synonym: "epileptic encephalopathy, early infantile, type 33" EXACT [MONDORULE:2, OMIM:616409]
xref: DOID:0080463 {source="MONDO:equivalentTo"}
xref: GARD:16106 {source="MONDO:GARD"}
xref: MEDGEN:897930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:111336 {source="MONDO:NORD"}
xref: OMIM:616409 {source="MONDO:equivalentTo"}
xref: UMLS:C4225337 {source="MEDGEN:897930", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:616409", source="MONDO:Redundant", source="OMIM:616409"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3192 ! EEF1A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3192 {source="MONDO:mim2gene_medgen"} ! EEF1A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014626
name: spinocerebellar ataxia type 41
def: "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging." [Orphanet:458798]
subset: gard_rare {source="GARD:17810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:458798"}
subset: orphanet_rare {source="Orphanet:458798"}
subset: rare
synonym: "SCA41" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616410, Orphanet:458798]
synonym: "spinocerebellar ataxia 41" RELATED [MONDO:Lexical, OMIM:616410]
synonym: "spinocerebellar ataxia type 41" EXACT [MONDORULE:2, OMIM:616410]
xref: DOID:0111744 {source="MONDO:equivalentTo"}
xref: GARD:17810 {source="MONDO:GARD"}
xref: ICD10CM:G11.2 {source="Orphanet:458798", source="Orphanet:458798/attributed", source="Orphanet:458798/ntbt"}
xref: MEDGEN:908281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616410 {source="Orphanet:458798", source="MONDO:equivalentTo", source="Orphanet:458798/e"}
xref: Orphanet:458798 {source="MONDO:equivalentTo"}
xref: UMLS:C4225158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908281"}
is_a: MONDO:0019793 {source="EFO:0009058", source="Orphanet:458798"} ! autosomal dominant cerebellar ataxia type III
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12335 {source="MONDO:mim2gene_medgen"} ! TRPC3

[Term]
id: MONDO:0014627
name: dystonia 27
def: "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17819", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464440"}
subset: orphanet_rare {source="Orphanet:464440"}
subset: rare
synonym: "COL6A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "dystonia 27" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616411]
synonym: "dystonia type 27" EXACT [DOID:0090050, MONDORULE:2, OMIM:616411]
synonym: "dystonic disorder caused by mutation in COL6A3" EXACT [MONDO:design_pattern]
synonym: "DYT27" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616411]
synonym: "primary dystonia, DYT27 type" RELATED [Orphanet:464440]
xref: DOID:0090050 {source="MONDO:equivalentTo"}
xref: GARD:17819 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:464440", source="Orphanet:464440/attributed", source="Orphanet:464440/ntbt", source="DOID:0090050"}
xref: MEDGEN:907580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616411 {source="Orphanet:464440", source="MONDO:equivalentTo", source="Orphanet:464440/e", source="DOID:0090050"}
xref: Orphanet:464440 {source="MONDO:equivalentTo", source="DOID:0090050"}
xref: UMLS:C4225336 {source="MEDGEN:907580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000479 {source="DOID:0090050"} ! segmental dystonia
is_a: MONDO:0015990 {source="Orphanet:464440"} ! focal, segmental or multifocal dystonia
is_a: MONDO:0044807 {source="DOID:0090050/inferred", source="MONDO:Redundant", source="OMIM:616411"} ! inherited dystonia
intersection_of: MONDO:0044807 ! inherited dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2213 ! COL6A3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2213 {source="MONDO:mim2gene_medgen"} ! COL6A3

[Term]
id: MONDO:0014628
name: basal ganglia calcification, idiopathic, 6
def: "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16107", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basal ganglia calcification, idiopathic, 6" EXACT [MONDO:Lexical, OMIM:616413]
synonym: "basal ganglia calcification, idiopathic, type 6" EXACT [MONDORULE:1, OMIM:616413]
synonym: "bilateral striopallidodentate calcinosis caused by mutation in XPR1" EXACT [MONDO:design_pattern]
synonym: "IBGC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616413]
synonym: "XPR1 bilateral striopallidodentate calcinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16107 {source="MONDO:GARD"}
xref: MEDGEN:901404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616413 {source="MONDO:equivalentTo"}
xref: Orphanet:1980 {source="OMIM:616413"}
xref: UMLS:C4225335 {source="MEDGEN:901404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:616413", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis
intersection_of: MONDO:0008947 ! bilateral striopallidodentate calcinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12827 ! XPR1
relationship: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12827 {source="MONDO:mim2gene_medgen"} ! XPR1

[Term]
id: MONDO:0014629
name: autoimmune interstitial lung disease-arthritis syndrome
def: "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." [Orphanet:444092]
comment: Editor note: check relationship to RA-ILD
subset: gard_rare {source="GARD:17762", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1973"}
subset: ordo_disorder {source="Orphanet:444092"}
subset: orphanet_rare {source="Orphanet:444092"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AILJK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616414]
synonym: "autoimmune interstitial lung, joint, and kidney disease" RELATED [MONDO:Lexical, OMIM:616414]
synonym: "copa defect" EXACT [Orphanet:444092]
synonym: "COPA Syndrome" EXACT [NORD:1973]
synonym: "copa syndrome" EXACT [Orphanet:444092]
xref: DOID:0081242 {source="MONDO:equivalentTo"}
xref: GARD:17762 {source="MONDO:GARD"}
xref: ICD10CM:J84.8 {source="Orphanet:444092", source="Orphanet:444092/attributed", source="Orphanet:444092/ntbt"}
xref: MEDGEN:1800821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1973 {source="MONDO:NORD"}
xref: OMIM:616414 {source="MONDO:equivalentTo", source="Orphanet:444092", source="Orphanet:444092/e"}
xref: Orphanet:444092 {source="MONDO:equivalentTo"}
xref: UMLS:C5243948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800821"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:444092", source="Orphanet:444092/inferred"} ! respiratory system disorder
is_a: MONDO:0957408 {source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: excluded_subClassOf MONDO:0017020 {source="Orphanet:444092", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:444092", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2230 {source="MONDO:mim2gene_medgen"} ! COPA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0014630
name: familial adenomatous polyposis 3
subset: gard_rare {source="GARD:17790", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:454840"}
subset: rare
synonym: "familial adenomatous polyposis 3" EXACT [MONDO:Lexical, OMIM:616415]
synonym: "familial adenomatous polyposis type 3" EXACT [MONDORULE:1, OMIM:616415]
synonym: "FAP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616415]
synonym: "NTHL1-related AFAP" EXACT [Orphanet:454840]
synonym: "NTHL1-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [Orphanet:454840]
synonym: "NTHL1-related attenuated FAP" EXACT [Orphanet:454840]
xref: DOID:0080411 {source="MONDO:equivalentTo"}
xref: GARD:17790 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:454840", source="Orphanet:454840/attributed", source="Orphanet:454840/ntbt"}
xref: MEDGEN:902388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616415 {source="Orphanet:454840", source="MONDO:equivalentTo", source="Orphanet:454840/e"}
xref: Orphanet:454840 {source="MONDO:equivalentTo"}
xref: UMLS:C4225157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902388"}
is_a: MONDO:0016362 {source="Orphanet:454840"} ! attenuated familial adenomatous polyposis
is_a: MONDO:0021055 {source="OMIM:616415"} ! classic familial adenomatous polyposis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8028 {source="MONDO:mim2gene_medgen"} ! NTHL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5374" xsd:anyURI

[Term]
id: MONDO:0014631
name: hypomagnesemia, seizures, and intellectual disability
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HOMGSMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:616418]
synonym: "hypomagnesemia, seizures, and intellectual disability" EXACT [MONDO:Lexical, OMIM:616418]
synonym: "hypomagnesemia, seizures, and mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:616418]
xref: OMIMPS:616418 {source="MONDO:equivalentTo"}
xref: Orphanet:34527 {source="OMIM:616418"}
is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:616418"} ! inherited

[Term]
id: MONDO:0014632
name: hypomyelinating leukodystrophy 10
def: "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLD10" EXACT ABBREVIATION [DOID:0060788, MONDO:Lexical, OMIM:616420]
synonym: "hypomyelinating leukodystrophy type 10" EXACT [DOID:0060788, MONDORULE:2]
synonym: "leukodystrophy caused by mutation in PYCR2" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 10" RELATED [MONDO:Lexical, OMIM:616420]
synonym: "leukodystrophy, hypomyelinating, type 10" EXACT [MONDORULE:2, OMIM:616420]
synonym: "PYCR2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060788 {source="MONDO:equivalentTo"}
xref: MEDGEN:904191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616420 {source="MONDO:equivalentTo", source="DOID:0060788"}
xref: UMLS:C4225332 {source="MEDGEN:904191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="DOID:0060788", source="DOID:0060788/inferred", source="MONDO:Redundant", source="OMIM:616420"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30262 ! PYCR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30262 {source="MONDO:mim2gene_medgen"} ! PYCR2

[Term]
id: MONDO:0014633
name: myoclonic-atonic epilepsy
subset: gard_rare {source="GARD:16108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2035"}
subset: rare
synonym: "mae" RELATED [MONDO:Lexical, OMIM:616421]
synonym: "Myoclonic Atonic Epilepsy" EXACT [NORD:2035]
synonym: "myoclonic-atonic epilepsy" EXACT [MONDO:Lexical, OMIM:616421]
xref: DOID:0060475 {source="MONDO:equivalentTo"}
xref: GARD:16108 {source="MONDO:GARD"}
xref: NORD:2035 {source="MONDO:NORD"}
xref: OMIM:616421 {source="MONDO:equivalentTo"}
xref: Orphanet:1942 {source="OMIM:616421"}
is_a: MONDO:0016025 {source="Orphanet:1942/btnt"} ! myoclonic-astatic epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11042 {source="MONDO:mim2gene_medgen"} ! SLC6A1

[Term]
id: MONDO:0014634
name: 46,XY sex reversal 10
subset: gard_rare {source="GARD:16109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XY SEX reversal 10" RELATED [OMIM:616425]
synonym: "46,XY sex reversal 10" EXACT [MONDO:Lexical, OMIM:616425]
synonym: "46,XY Sex reversal type 10" EXACT [MONDORULE:2, OMIM:616425]
synonym: "46XY sex reversal 10" EXACT [OMIM:616425, OMIM:genemap2]
synonym: "chromosome 17Q24 deletion syndrome" RELATED [OMIM:616425]
synonym: "SRXY10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616425]
xref: DOID:0111775 {source="MONDO:equivalentTo"}
xref: GARD:16109 {source="MONDO:GARD"}
xref: MEDGEN:897538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616425 {source="MONDO:equivalentTo"}
xref: Orphanet:242 {source="OMIM:616425"}
xref: Orphanet:251510 {source="OMIM:616425"}
xref: UMLS:C4225331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897538"}
is_a: MONDO:0010765 {source="OMIM:616425", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis
is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11204 {source="MONDO:mim2gene_medgen"} ! SOX9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014635
name: microphthalmia, isolated, with coloboma 10
def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16110", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPCB10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616428]
synonym: "microphthalmia, isolated, with coloboma 10" EXACT [MONDO:Lexical, OMIM:616428]
synonym: "microphthalmia, isolated, with coloboma caused by mutation in RBP4" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, isolated, with coloboma type 10" EXACT [MONDORULE:2, OMIM:616428]
synonym: "RBP4 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16110 {source="MONDO:GARD"}
xref: MEDGEN:909133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616428 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:616428"}
xref: UMLS:C4225330 {source="MEDGEN:909133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000170 {source="MONDO:0014635/inferred", source="MONDO:Redundant", source="OMIM:616428", source="Orphanet:98938/btnt"} ! microphthalmia, isolated, with coloboma
intersection_of: MONDO:0000170 ! microphthalmia, isolated, with coloboma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9922 ! RBP4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9922 {source="MONDO:mim2gene_medgen"} ! RBP4

[Term]
id: MONDO:0014636
name: combined oxidative phosphorylation defect type 25
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447954"}
subset: orphanet_rare {source="Orphanet:447954"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 25" RELATED [MONDO:Lexical, OMIM:616430]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 25" EXACT [MONDORULE:2, OMIM:616430]
synonym: "COXPD25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616430, Orphanet:447954]
synonym: "MARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111468 {source="MONDO:equivalentTo"}
xref: GARD:17775 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:447954", source="Orphanet:447954/attributed", source="Orphanet:447954/ntbt"}
xref: MEDGEN:1799165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616430 {source="Orphanet:447954", source="MONDO:equivalentTo", source="Orphanet:447954/e"}
xref: Orphanet:447954 {source="MONDO:equivalentTo"}
xref: UMLS:C5567742 {source="MEDGEN:1799165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:616430", source="MONDO:Redundant", source="OMIM:616430"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 ! MARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 {source="MONDO:mim2gene_medgen"} ! MARS2

[Term]
id: MONDO:0014637
name: DOCK2 deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447737"}
subset: orphanet_rare {source="Orphanet:447737"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD40" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616433]
synonym: "immunodeficiency 40" RELATED [MONDO:Lexical, OMIM:616433]
synonym: "immunodeficiency type 40" EXACT [MONDORULE:2, OMIM:616433]
xref: DOID:0111951 {source="MONDO:equivalentTo"}
xref: GARD:12653 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:447737", source="Orphanet:447737/attributed", source="Orphanet:447737/ntbt"}
xref: MEDGEN:901370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616433 {source="MONDO:equivalentTo", source="Orphanet:447737", source="Orphanet:447737/e"}
xref: Orphanet:447737 {source="MONDO:equivalentTo"}
xref: UMLS:C4225328 {source="MEDGEN:901370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:616433"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:447737", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2988 {source="MONDO:mim2gene_medgen"} ! DOCK2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency" xsd:anyURI {source="GARD:0012653"}

[Term]
id: MONDO:0014638
name: Fanconi anemia complementation group T
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fanconi anaemia caused by mutation in UBE2T" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type T" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in UBE2T" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type T" EXACT [DOID:0111081, MONDORULE:1]
synonym: "Fanconi anemia, complementation group T" RELATED [MONDO:Lexical, OMIM:616435]
synonym: "Fanconi Anemia, complementation group type T" EXACT [MONDORULE:1, OMIM:616435]
synonym: "FANCT" EXACT ABBREVIATION [DOID:0111081, MONDO:Lexical, OMIM:616435]
synonym: "UBE2T Fanconi anaemia" EXACT OMO:0003005 []
synonym: "UBE2T Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111081 {source="MONDO:equivalentTo"}
xref: GARD:16111 {source="MONDO:GARD"}
xref: MEDGEN:896157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616435 {source="DOID:0111081", source="MONDO:equivalentTo"}
xref: UMLS:C4084840 {source="MEDGEN:896157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:616435", source="DOID:0111081", source="MONDO:Redundant", source="OMIM:616435"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25009 ! UBE2T
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25009 {source="MONDO:mim2gene_medgen"} ! UBE2T

[Term]
id: MONDO:0014639
name: familial temporal lobe epilepsy 7
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22." [DOID:0060751, PMID:26046367]
subset: gard_rare {source="GARD:16112", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, familial temporal lobe, 7" RELATED [MONDO:Lexical, OMIM:616436]
synonym: "epilepsy, familial temporal lobe, type 7" EXACT [MONDORULE:1, OMIM:616436]
synonym: "ETL7" EXACT ABBREVIATION [DOID:0060751, MONDO:Lexical, OMIM:616436]
synonym: "familial temporal lobe epilepsy type 7" EXACT [DOID:0060751, MONDORULE:1]
xref: DOID:0060751 {source="MONDO:equivalentTo"}
xref: GARD:16112 {source="MONDO:GARD"}
xref: MEDGEN:907609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616436 {source="DOID:0060751", source="MONDO:equivalentTo"}
xref: Orphanet:101046 {source="OMIM:616436", source="DOID:0060751"}
xref: UMLS:C4225327 {source="MEDGEN:907609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005115 {source="OMIM:616436"} ! temporal lobe epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9957 {source="MONDO:mim2gene_medgen"} ! RELN

[Term]
id: MONDO:0014640
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 3
def: "An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35." [DOID:0110068, PMID:22084127]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16113", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 3" EXACT [DOID:0110068, MONDO:Lexical, OMIM:616437]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 3" EXACT [MONDORULE:1, OMIM:616437]
synonym: "FTDALS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616437]
xref: DOID:0110068 {source="MONDO:equivalentTo"}
xref: GARD:16113 {source="MONDO:GARD"}
xref: MEDGEN:897127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616437 {source="MONDO:equivalentTo", source="DOID:0110068"}
xref: Orphanet:275864 {source="OMIM:616437"}
xref: Orphanet:275872 {source="OMIM:616437"}
xref: Orphanet:803 {source="MONDO:relatedTo", source="OMIM:616437"}
xref: UMLS:C4225326 {source="MEDGEN:897127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="OMIM:616437"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017160 {source="Orphanet:275864/btnt"} ! behavioral variant of frontotemporal dementia
is_a: MONDO:0017161 {source="OMIM:616437", source="Orphanet:275872/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! frontotemporal dementia with motor neuron disease
is_a: MONDO:0030923 {source="OMIM:616437"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis
is_a: MONDO:0800464 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1-related multisystem proteinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0014641
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4
def: "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14." [DOID:0110069, PMID:25700176]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" EXACT [DOID:0110069, MONDO:Lexical, OMIM:616439]
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4" EXACT [MONDORULE:1, OMIM:616439]
synonym: "FTDALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616439]
xref: DOID:0110069 {source="MONDO:equivalentTo"}
xref: GARD:18398 {source="MONDO:GARD"}
xref: MEDGEN:902979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616439 {source="MONDO:equivalentTo", source="DOID:0110069"}
xref: Orphanet:275872 {source="OMIM:616439"}
xref: UMLS:C4225325 {source="MEDGEN:902979", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="OMIM:616439"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0017161 {source="OMIM:616439", source="Orphanet:275872/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! frontotemporal dementia with motor neuron disease
is_a: MONDO:0030923 {source="OMIM:616439"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11584 {source="MONDO:mim2gene_medgen"} ! TBK1

[Term]
id: MONDO:0014642
name: candidiasis, familial, 9
def: "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16114", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CANDF9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616445]
synonym: "candidiasis, familial, 9" EXACT [MONDO:Lexical, OMIM:616445]
synonym: "candidiasis, familial, type 9" EXACT [MONDORULE:1, OMIM:616445]
synonym: "chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC" EXACT []
synonym: "IL17RC chronic mucocutaneous candidiasis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: GARD:16114 {source="MONDO:GARD"}
xref: MEDGEN:906897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616445 {source="MONDO:equivalentTo"}
xref: UMLS:C4225324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906897"}
is_a: MONDO:0015279 {source="OMIM:616445"} ! chronic mucocutaneous candidiasis
intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18358 ! IL17RC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18358 {source="MONDO:mim2gene_medgen"} ! IL17RC

[Term]
id: MONDO:0014643
name: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
subset: gard_rare {source="GARD:17821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464738"}
subset: ordo_malformation_syndrome {source="Orphanet:464738"}
subset: orphanet_rare {source="Orphanet:464738"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Basel-Vanagait-Smirin-Yosef syndrome" EXACT [OMIM:616449, OMIM:genemap2]
synonym: "BASEL-Vanagaite-SMIRIN-YOSEF syndrome" RELATED [MONDO:Lexical, OMIM:616449]
synonym: "BVSYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616449]
xref: GARD:17821 {source="MONDO:GARD"}
xref: MEDGEN:897292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616449 {source="Orphanet:464738/e", source="MONDO:equivalentTo", source="Orphanet:464738"}
xref: Orphanet:464738 {source="MONDO:equivalentTo"}
xref: UMLS:C4225323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897292"}
is_a: MONDO:0015159 {source="Orphanet:464738"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464738", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28845 {source="MONDO:mim2gene_medgen"} ! MED25
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014644
name: hereditary spastic paraplegia 74
def: "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." [Orphanet:468661]
subset: gard_rare {source="GARD:17842", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468661"}
subset: orphanet_rare {source="Orphanet:468661"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 74" EXACT [DOID:0110819]
synonym: "autosomal recessive spastic paraplegia type 74" RELATED [Orphanet:468661]
synonym: "hereditary spastic paraplegia caused by mutation in IBA57" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 74" EXACT [DOID:0110819, MONDORULE:2]
synonym: "IBA57 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 74, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616451]
synonym: "SPG74" EXACT ABBREVIATION [DOID:0110819, MONDO:Lexical, OMIM:616451, Orphanet:468661]
xref: DOID:0110819 {source="MONDO:equivalentTo"}
xref: GARD:17842 {source="MONDO:GARD"}
xref: MEDGEN:1800260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616451 {source="MONDO:equivalentTo", source="DOID:0110819", source="Orphanet:468661"}
xref: Orphanet:468661 {source="MONDO:equivalentTo", source="DOID:0110819"}
xref: UMLS:C5568837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800260"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110819", source="MONDO:Redundant", source="OMIM:616451", source="Orphanet:468661/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 ! IBA57
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 {source="MONDO:mim2gene_medgen"} ! IBA57
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014645
name: BENTA disease
def: "BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results." [GARD:0013339]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464336"}
subset: orphanet_rare {source="Orphanet:464336"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B-cell expansion with NF-kB and T-cell anergy disease" EXACT [GARD:0013339, Orphanet:464336]
synonym: "B-cell expansion with NFKB and T-cell anergy" RELATED [GARD:0013339, MONDO:Lexical, OMIM:616452]
synonym: "BENTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616452]
xref: GARD:13339 {source="MONDO:GARD"}
xref: MEDGEN:1641265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616452 {source="MONDO:equivalentTo", source="Orphanet:464336", source="Orphanet:464336/e"}
xref: Orphanet:464336 {source="MONDO:equivalentTo"}
xref: UMLS:C4551967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641265"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:464336", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16393 {source="MONDO:mim2gene_medgen"} ! CARD11

[Term]
id: MONDO:0014646
name: Zimmermann-Laband syndrome 2
def: "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16115", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ATP6V1B2 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Zimmermann-Laband syndrome 2" EXACT [MONDO:Lexical, OMIM:616455]
synonym: "Zimmermann-Laband syndrome caused by mutation in ATP6V1B2" EXACT [MONDO:design_pattern]
synonym: "Zimmermann-Laband syndrome type 2" EXACT [MONDORULE:1, OMIM:616455]
synonym: "ZLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616455]
xref: GARD:16115 {source="MONDO:GARD"}
xref: MEDGEN:897567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616455 {source="MONDO:equivalentTo"}
xref: Orphanet:3473 {source="OMIM:616455"}
xref: UMLS:C4225321 {source="MEDGEN:897567", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000200 {source="MONDO:Redundant", source="OMIM:616455", source="Orphanet:3473/btnt"} ! Zimmermann-Laband syndrome
intersection_of: MONDO:0000200 ! Zimmermann-Laband syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/854 ! ATP6V1B2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/854 {source="MONDO:mim2gene_medgen"} ! ATP6V1B2

[Term]
id: MONDO:0014647
name: developmental and epileptic encephalopathy, 50
subset: gard_rare {source="GARD:13621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:448010"}
subset: orphanet_rare {source="Orphanet:448010"}
subset: rare
synonym: "CAD-CDG" EXACT [Orphanet:448010]
synonym: "carbohydrate deficient glycoprotein syndrome type Iz" EXACT [Orphanet:448010]
synonym: "CDG syndrome type Iz" EXACT [Orphanet:448010]
synonym: "CDG-Iz" EXACT [Orphanet:448010]
synonym: "CDG1Z" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616457, Orphanet:448010]
synonym: "congenital disorder of glycosylation type 1z" EXACT [Orphanet:448010]
synonym: "congenital disorder of glycosylation, type Iz" RELATED [MONDO:Lexical, OMIM:616457]
synonym: "congenital disorder of glycosylation, type Iz, formerly" RELATED [OMIM:616457]
synonym: "DEE50" EXACT ABBREVIATION [OMIM:616457]
synonym: "developmental and epileptic encephalopathy 50" EXACT [OMIM:616457, OMIM:genemap2]
synonym: "EIEE50" EXACT ABBREVIATION [OMIM:616457]
synonym: "epileptic encephalopathy, early infantile, 50" EXACT [OMIM:616457]
xref: DOID:0080419 {source="MONDO:equivalentTo"}
xref: GARD:13621 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:448010", source="Orphanet:448010/attributed", source="Orphanet:448010/ntbt"}
xref: MEDGEN:904125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616457 {source="MONDO:equivalentTo", source="Orphanet:448010", source="Orphanet:448010/e"}
xref: Orphanet:448010 {source="MONDO:equivalentTo"}
xref: UMLS:C4225320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904125"}
is_a: MONDO:0005500 {source="DC-OMIM:616457"} ! congenital disorder of glycosylation type I
is_a: MONDO:0017749 {source="Orphanet:448010"} ! disorder of multiple glycosylation
is_a: MONDO:0019238 {source="Orphanet:448010"} ! inborn disorder of pyrimidine metabolism
is_a: MONDO:0100062 {source="OMIM:616457"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1424 {source="MONDO:mim2gene_medgen"} ! CAD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014648
name: Al-Raqad syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AL-RAQAD syndrome" RELATED [OMIM:616459]
synonym: "Al-Raqad syndrome" EXACT [MONDO:Lexical, OMIM:616459]
synonym: "ARS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616459]
xref: MEDGEN:897610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616459 {source="MONDO:equivalentTo"}
xref: UMLS:C4085595 {source="MEDGEN:897610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29812 {source="MONDO:mim2gene_medgen"} ! DCPS

[Term]
id: MONDO:0014649
name: intellectual disability, autosomal recessive 50
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3" EXACT [MONDO:design_pattern]
synonym: "EDC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal recessive 50" EXACT [OMIM:616460, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 50" EXACT [MONDO:Lexical, OMIM:616460]
synonym: "intellectual disability, autosomal recessive type 50" EXACT [MONDORULE:2, OMIM:616460]
synonym: "mental retardation, autosomal recessive 50" RELATED DEPRECATED [MONDO:Lexical, OMIM:616460]
synonym: "mental retardation, autosomal recessive type 50" EXACT DEPRECATED [MONDORULE:2, OMIM:616460]
synonym: "MRT50" RELATED DEPRECATED [MONDO:Lexical, OMIM:616460]
xref: DOID:0081213 {source="MONDO:equivalentTo"}
xref: GARD:22570 {source="MONDO:GARD"}
xref: MEDGEN:906893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616460 {source="MONDO:equivalentTo"}
xref: UMLS:C4225319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906893"}
is_a: MONDO:0019502 {source="DC-OMIM:616460", source="MONDO:Redundant", source="OMIM:616460"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26114 ! EDC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26114 {source="MONDO:mim2gene_medgen"} ! EDC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014650
name: familial temporal lobe epilepsy 8
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13." [DOID:0060754, PMID:25691535]
subset: gard_rare {source="GARD:16116", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, familial temporal lobe, 8" RELATED [MONDO:Lexical, OMIM:616461]
synonym: "epilepsy, familial temporal lobe, type 8" EXACT [MONDORULE:1, OMIM:616461]
synonym: "ETL8" EXACT ABBREVIATION [DOID:0060754, MONDO:Lexical, OMIM:616461]
synonym: "familial temporal lobe epilepsy type 8" EXACT [DOID:0060754, MONDORULE:1]
xref: DOID:0060754 {source="MONDO:equivalentTo"}
xref: GARD:16116 {source="MONDO:GARD"}
xref: MEDGEN:909158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616461 {source="DOID:0060754", source="MONDO:equivalentTo"}
xref: Orphanet:101046 {source="DOID:0060754"}
xref: UMLS:C4225318 {source="MEDGEN:909158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005115 {source="OMIM:616461"} ! temporal lobe epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4114 {source="MONDO:mim2gene_medgen"} ! GAL

[Term]
id: MONDO:0014651
name: acrofacial dysostosis Cincinnati type
def: "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16117", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acrofacial dysostosis caused by mutation in POLR1A" EXACT [MONDO:design_pattern]
synonym: "acrofacial dysostosis, Cincinnati type" RELATED [MONDO:Lexical, OMIM:616462]
synonym: "AFDCIN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616462]
synonym: "POLR1A acrofacial dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060353 {source="MONDO:equivalentTo"}
xref: GARD:16117 {source="MONDO:GARD"}
xref: MEDGEN:903483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616462 {source="DOID:0060353", source="MONDO:equivalentTo"}
xref: UMLS:C4225317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903483"}
is_a: MONDO:0018237 {source="DC-OMIM:616462", source="DOID:0060353", source="MONDO:Entailed", source="MONDO:Redundant"} ! acrofacial dysostosis
intersection_of: MONDO:0018237 ! acrofacial dysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17264 ! POLR1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17264 {source="MONDO:mim2gene_medgen"} ! POLR1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014652
name: exudative vitreoretinopathy 6
def: "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EVR6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616468]
synonym: "exudative vitreoretinopathy 6" EXACT [MONDO:Lexical, OMIM:616468]
synonym: "exudative vitreoretinopathy caused by mutation in ZNF408" EXACT [MONDO:design_pattern]
synonym: "exudative vitreoretinopathy type 6" EXACT [MONDORULE:1, OMIM:616468]
synonym: "ZNF408 exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111410 {source="MONDO:equivalentTo"}
xref: GARD:16118 {source="MONDO:GARD"}
xref: MEDGEN:902559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616468 {source="MONDO:equivalentTo"}
xref: Orphanet:891 {source="OMIM:616468"}
xref: UMLS:C4225316 {source="MEDGEN:902559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019516 {source="DC-OMIM:616468", source="MONDO:Redundant", source="OMIM:616468"} ! exudative vitreoretinopathy
intersection_of: MONDO:0019516 ! exudative vitreoretinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 ! ZNF408
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 {source="MONDO:mim2gene_medgen"} ! ZNF408

[Term]
id: MONDO:0014653
name: retinitis pigmentosa 72
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16119", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 72" EXACT [MONDO:Lexical, OMIM:616469]
synonym: "retinitis pigmentosa caused by mutation in ZNF408" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 72" EXACT [DOID:0110395, MONDORULE:2, OMIM:616469]
synonym: "RP72" EXACT ABBREVIATION [DOID:0110395, MONDO:Lexical, OMIM:616469]
synonym: "ZNF408 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110395 {source="MONDO:equivalentTo"}
xref: GARD:16119 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110395"}
xref: MEDGEN:895867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616469 {source="MONDO:equivalentTo", source="DOID:0110395"}
xref: UMLS:C4225315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895867"}
is_a: MONDO:0019200 {source="DC-OMIM:616469", source="DOID:0110395", source="MONDO:Redundant", source="OMIM:616469"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 ! ZNF408
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 {source="MONDO:mim2gene_medgen"} ! ZNF408

[Term]
id: MONDO:0014654
name: Ullrich congenital muscular dystrophy 2
def: "Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16120", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COL12A1 Ullrich congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UCMD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616470]
synonym: "Ullrich congenital muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:616470]
synonym: "Ullrich congenital muscular dystrophy caused by mutation in COL12A1" EXACT [MONDO:design_pattern]
synonym: "Ullrich congenital muscular dystrophy type 2" EXACT [MONDORULE:1, OMIM:616470]
xref: DOID:0060948 {source="MONDO:equivalentTo"}
xref: GARD:16120 {source="MONDO:GARD"}
xref: MEDGEN:899150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616470 {source="MONDO:equivalentTo"}
xref: UMLS:C4225314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899150"}
is_a: MONDO:0000355 {source="MONDO:0014654/inferred", source="MONDO:Redundant", source="OMIM:616470"} ! Ullrich congenital muscular dystrophy
intersection_of: MONDO:0000355 ! Ullrich congenital muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 ! COL12A1
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 {source="MONDO:mim2gene_medgen"} ! COL12A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014655
name: obsolete Bethlem myopathy 2
comment: duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2461" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0034022

[Term]
id: MONDO:0014656
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18450", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PEOB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616479]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1" EXACT [MONDO:design_pattern]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:616479]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:616479]
synonym: "progressive external ophthalmoplegia, autosomal recessive 2" RELATED [OMIM:616479]
synonym: "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111515 {source="MONDO:equivalentTo"}
xref: GARD:18450 {source="MONDO:GARD"}
xref: MEDGEN:901897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616479 {source="MONDO:equivalentTo"}
xref: Orphanet:329336 {source="OMIM:616479"}
xref: UMLS:C4225312 {source="MEDGEN:901897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000090 {source="DC-OMIM:616479", source="MONDO:Redundant", source="OMIM:616479"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0018002 {source="Orphanet:329336/btnt"} ! adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
intersection_of: MONDO:0000090 ! progressive external ophthalmoplegia with mitochondrial DNA deletions
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18466 ! RNASEH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18466 {source="MONDO:mim2gene_medgen"} ! RNASEH1

[Term]
id: MONDO:0014657
name: primary ciliary dyskinesia 32
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD32" EXACT ABBREVIATION [DOID:0110603, MONDO:Lexical, OMIM:616481]
synonym: "ciliary dyskinesia, primary, 32" RELATED [MONDO:Lexical, OMIM:616481]
synonym: "ciliary dyskinesia, primary, 32, without situs inversus" RELATED [OMIM:616481]
synonym: "ciliary dyskinesia, primary, type 32" EXACT [MONDORULE:2, OMIM:616481]
synonym: "primary ciliary dyskinesia 32 without situs inversus" EXACT [DOID:0110603]
synonym: "primary ciliary dyskinesia caused by mutation in RSPH3" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 32" EXACT [DOID:0110603, MONDORULE:2]
synonym: "RSPH3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110603 {source="MONDO:equivalentTo"}
xref: GARD:16122 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110603"}
xref: MEDGEN:896106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616481 {source="DOID:0110603", source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:616481"}
xref: UMLS:C4225311 {source="MEDGEN:896106", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:616481", source="DOID:0110603", source="MONDO:Redundant", source="OMIM:616481"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21054 ! RSPH3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21054 {source="MONDO:mim2gene_medgen"} ! RSPH3

[Term]
id: MONDO:0014658
name: severe achondroplasia-developmental delay-acanthosis nigricans syndrome
def: "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." [Orphanet:85165]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85165"}
subset: orphanet_rare {source="Orphanet:85165"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "achondroplasia, severe, with developmental delay and acanthosis nigricans" RELATED [MONDO:Lexical, OMIM:616482]
synonym: "SADDAN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616482, Orphanet:85165]
synonym: "SADDAN dysplasia" EXACT [DOID:0111158, OMIM:616482]
synonym: "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT [DOID:0111158]
xref: DOID:0111158 {source="MONDO:equivalentTo"}
xref: GARD:9443 {source="MONDO:GARD"}
xref: ICD10CM:Q77.4 {source="Orphanet:85165/attributed", source="Orphanet:85165/ntbt", source="MONDO:directSiblingOf", source="Orphanet:85165"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:783.40 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:393098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616482 {source="Orphanet:85165/e", source="MONDO:equivalentTo", source="Orphanet:85165", source="DOID:0111158"}
xref: Orphanet:85165 {source="MONDO:equivalentTo", source="OMIM:616482", source="DOID:0111158"}
xref: PMID:10053006 {source="DOID:0111158"}
xref: SCTID:699870002 {source="MONDO:equivalentTo", source="DOID:0111158"}
xref: UMLS:C2674173 {source="MEDGEN:393098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0111158", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0019685 {source="Orphanet:85165", source="PMID:31633310"} ! FGFR3-related chondrodysplasia
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:85165", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia
relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:616482", source="Orphanet:85165"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3690 {source="MONDO:mim2gene_medgen"} ! FGFR3
relationship: seeAlso https://ghr.nlm.nih.gov/condition/saddan {source="DOID:0111158"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014659
name: infantile liver failure syndrome 2
def: "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13113", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ILFS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616483]
synonym: "infantile liver failure caused by mutation in NBAS" EXACT [MONDO:design_pattern]
synonym: "infantile liver failure syndrome 2" EXACT [MONDO:Lexical, OMIM:616483]
synonym: "infantile liver failure syndrome type 2" EXACT [MONDORULE:1, OMIM:616483]
synonym: "NBAS infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:13113 {source="MONDO:GARD"}
xref: MEDGEN:815981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C158135 {source="MONDO:equivalentTo"}
xref: OMIM:616483 {source="MONDO:equivalentTo", source="Orphanet:464724", source="Orphanet:464724/e"}
xref: UMLS:C3809651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815981"}
is_a: MONDO:0000023 {source="DC-OMIM:616483", source="MONDO:Redundant", source="OMIM:616483"} ! infantile liver failure
intersection_of: MONDO:0000023 ! infantile liver failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15625 ! NBAS
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15625 {source="MONDO:mim2gene_medgen"} ! NBAS

[Term]
id: MONDO:0014660
name: microcephaly 15, primary, autosomal recessive
subset: gard_rare {source="GARD:16123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616486]
synonym: "microcephaly 15, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616486]
synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities" EXACT [OMIM:616486, OMIM:genemap2]
xref: DOID:0070277 {source="MONDO:equivalentTo"}
xref: GARD:16123 {source="MONDO:GARD"}
xref: MEDGEN:895496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616486 {source="MONDO:equivalentTo"}
xref: Orphanet:2512 {source="OMIM:616486"}
xref: UMLS:C4225310 {source="MEDGEN:895496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="DC-OMIM:616486", source="OMIM:616486"} ! autosomal recessive primary microcephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25897 {source="MONDO:mim2gene_medgen"} ! MFSD2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014661
name: epidermolysis bullosa simplex with nail dystrophy
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBSND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616487]
synonym: "epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessive" EXACT OMO:0003005 []
synonym: "epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive" EXACT [OMIM:616487, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex with nail dystrophy" EXACT [MONDO:Lexical, OMIM:616487]
xref: MEDGEN:906476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616487 {source="MONDO:equivalentTo"}
xref: UMLS:C4225309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906476"}
is_a: MONDO:0003847 {source="OMIM:616487"} ! hereditary disease
is_a: MONDO:0017610 {source="OMIM:616487"} ! epidermolysis bullosa simplex
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014662
name: congenital insensitivity to pain-hypohidrosis syndrome
def: "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34." [DOID:0070153]
subset: gard_rare {source="GARD:17866", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:478664"}
subset: orphanet_rare {source="Orphanet:478664"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CIP-hypohidrosis syndrome" EXACT [Orphanet:478664]
synonym: "hereditary sensory and autonomic neuropathy type 8" EXACT [Orphanet:478664]
synonym: "hereditary sensory and autonomic neuropathy type VIII" EXACT [DOID:0070153, Orphanet:478664]
synonym: "HSAN 8" RELATED [OMIM:616488]
synonym: "HSAN8" EXACT ABBREVIATION [DOID:0070153, MONDO:Lexical, OMIM:616488, Orphanet:478664]
synonym: "neuropathy, hereditary sensory and autonomic, type 8" RELATED [OMIM:616488]
synonym: "neuropathy, hereditary sensory and autonomic, type VIII" RELATED [MONDO:Lexical, OMIM:616488]
xref: DOID:0070153 {source="MONDO:equivalentTo"}
xref: GARD:17866 {source="MONDO:GARD"}
xref: MEDGEN:894363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616488 {source="DOID:0070153", source="Orphanet:478664", source="MONDO:equivalentTo"}
xref: Orphanet:478664 {source="DOID:0070153", source="MONDO:equivalentTo"}
xref: UMLS:C4225308 {source="MEDGEN:894363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="DOID:0070153", source="OMIM:616488", source="Orphanet:478664/inferred"} ! hereditary sensory and autonomic neuropathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13997 {source="MONDO:mim2gene_medgen"} ! PRDM12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014663
name: Silver-Russell syndrome 3
subset: gard_rare {source="GARD:18463", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GRDF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616489]
synonym: "growth restriction, severe, with distinctive facies" EXACT [MONDO:Lexical, OMIM:616489]
synonym: "SRS3" EXACT ABBREVIATION [OMIM:616489]
xref: GARD:18463 {source="MONDO:GARD"}
xref: MEDGEN:894912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616489 {source="MONDO:equivalentTo"}
xref: UMLS:C4225307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894912"}
is_a: MONDO:0008394 {source="https://orcid.org/0000-0001-5208-3432"} ! Silver-Russell syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5466 {source="MONDO:mim2gene_medgen"} ! IGF2

[Term]
id: MONDO:0014664
name: Joubert syndrome 23
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS23" EXACT ABBREVIATION [DOID:0110992, MONDO:Lexical, OMIM:616490]
synonym: "Joubert syndrome 23" EXACT [MONDO:Lexical, OMIM:616490]
synonym: "Joubert syndrome caused by mutation in KIAA0586" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 23" EXACT [DOID:0110992, MONDORULE:2, OMIM:616490]
synonym: "KIAA0586 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110992 {source="MONDO:equivalentTo"}
xref: GARD:16124 {source="MONDO:GARD"}
xref: MEDGEN:900119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616490 {source="MONDO:equivalentTo", source="DOID:0110992"}
xref: Orphanet:475 {source="OMIM:616490"}
xref: UMLS:C4084822 {source="MEDGEN:900119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DC-OMIM:616490", source="DOID:0110992", source="MONDO:Redundant", source="OMIM:616490"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19960 ! KIAA0586
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19960 {source="MONDO:mim2gene_medgen"} ! KIAA0586

[Term]
id: MONDO:0014665
name: Charcot-Marie-Tooth disease axonal type 2V
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447964"}
subset: orphanet_rare {source="Orphanet:447964"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation" EXACT [Orphanet:447964]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178]
synonym: "Charcot-Marie-Tooth disease caused by mutation in NAGLU" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V" RELATED [OMIM:616491]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2V" RELATED [MONDO:Lexical, OMIM:616491]
synonym: "Charcot-Marie-Tooth neuropathy type 2V" EXACT [DOID:0110178]
synonym: "Charcot-Marie-Tooth neuropathy, type 2V" RELATED [OMIM:616491]
synonym: "CMT2V" EXACT ABBREVIATION [DOID:0110178, MONDO:Lexical, OMIM:616491, Orphanet:447964]
synonym: "hereditary adult-onset painful axonal polyneuropathy" EXACT [Orphanet:447964]
synonym: "NAGLU Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110178 {source="MONDO:equivalentTo"}
xref: GARD:17777 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:447964/attributed", source="Orphanet:447964/ntbt", source="Orphanet:447964"}
xref: MEDGEN:1800473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616491 {source="Orphanet:447964", source="MONDO:equivalentTo", source="Orphanet:447964/e", source="DOID:0110178"}
xref: Orphanet:447964 {source="MONDO:equivalentTo", source="DOID:0110178"}
xref: UMLS:C5569050 {source="MEDGEN:1800473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110178/inferred", source="MONDO:Redundant", source="OMIM:616491", source="Orphanet:447964/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110178", source="Orphanet:447964"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7632 ! NAGLU
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7632 {source="MONDO:mim2gene_medgen"} ! NAGLU

[Term]
id: MONDO:0014666
name: hypomyelinating leukodystrophy 11
def: "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene." [MONDO:patterns/disease_series_by_gene]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'reproductive system disorder' (MONDO:0005039) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0002-2825-0621)
subset: gard_rare {source="GARD:18088", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD11" EXACT ABBREVIATION [DOID:0060792, MONDO:Lexical, OMIM:616494]
synonym: "hypomyelinating leukodystrophy type 11" EXACT [DOID:0060792, MONDORULE:2]
synonym: "leukodystrophy caused by mutation in POLR1C" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 11" RELATED [MONDO:Lexical, OMIM:616494]
synonym: "leukodystrophy, hypomyelinating, type 11" EXACT [MONDORULE:2, OMIM:616494]
synonym: "POLR1C leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060792 {source="MONDO:equivalentTo"}
xref: GARD:18088 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="DOID:0060792"}
xref: MEDGEN:897960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616494 {source="DOID:0060792", source="MONDO:equivalentTo"}
xref: Orphanet:88637 {source="OMIM:616494"}
xref: UMLS:C4225305 {source="MEDGEN:897960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="DOID:0060792", source="DOID:0060792/inferred", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:616494"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 ! POLR1C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 {source="MONDO:mim2gene_medgen"} ! POLR1C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0014667
name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" EXACT [MONDO:Lexical, OMIM:616500]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3" EXACT [MONDORULE:1, OMIM:616500]
synonym: "CEMCOX3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616500]
synonym: "COA5 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COA5" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex IV, deficiency, nuclear type 9" EXACT [OMIM:616500, OMIM:genemap2]
xref: DOID:0080359 {source="MONDO:equivalentTo"}
xref: GARD:18572 {source="MONDO:GARD"}
xref: MEDGEN:903495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616500 {source="MONDO:equivalentTo"}
xref: Orphanet:1561 {source="OMIM:616500"}
xref: UMLS:C4225154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903495"}
is_a: MONDO:0015487 {source="DC-OMIM:616500", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy
intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33848 ! COA5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33848 {source="MONDO:mim2gene_medgen"} ! COA5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014668
name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
def: "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" EXACT [MONDO:Lexical, OMIM:616501]
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4" EXACT [MONDORULE:1, OMIM:616501]
synonym: "CEMCOX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616501]
synonym: "COA6 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COA6" EXACT [MONDO:design_pattern]
synonym: "mitochondrial complex IV deficiency, nuclear type 13" EXACT [OMIM:616501, OMIM:genemap2]
xref: DOID:0080360 {source="MONDO:equivalentTo"}
xref: GARD:18573 {source="MONDO:GARD"}
xref: MEDGEN:905398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616501 {source="MONDO:equivalentTo"}
xref: Orphanet:1561 {source="OMIM:616501"}
xref: UMLS:C4225304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905398"}
is_a: MONDO:0015487 {source="DC-OMIM:616501", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy
intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18025 ! COA6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18025 {source="MONDO:mim2gene_medgen"} ! COA6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014669
name: cone-rod dystrophy 21
def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 21" EXACT [MONDO:Lexical, OMIM:616502]
synonym: "cone-rod dystrophy caused by mutation in DRAM2" EXACT [MONDO:design_pattern]
synonym: "cone-rod dystrophy type 21" EXACT [MONDORULE:2, OMIM:616502]
synonym: "CORD21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616502]
synonym: "DRAM2 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinal dystrophy with early macular involvement" RELATED [OMIM:616502]
xref: DOID:0081447 {source="MONDO:equivalentTo"}
xref: GARD:16125 {source="MONDO:GARD"}
xref: MEDGEN:891534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616502 {source="MONDO:equivalentTo"}
xref: UMLS:C4049066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:891534"}
is_a: MONDO:0015993 {source="MONDO:Redundant"} ! cone-rod dystrophy
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28769 ! DRAM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28769 {source="MONDO:mim2gene_medgen"} ! DRAM2

[Term]
id: MONDO:0014670
name: lethal congenital contracture syndrome 9
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADGRG6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616503]
synonym: "lethal congenital contracture syndrome 9" EXACT [MONDO:Lexical, OMIM:616503]
synonym: "lethal congenital contracture syndrome caused by mutation in ADGRG6" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 9" EXACT [MONDORULE:1, OMIM:616503]
xref: MEDGEN:903881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616503 {source="MONDO:equivalentTo"}
xref: UMLS:C4225303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903881"}
is_a: MONDO:0017436 {source="DC-OMIM:616503", source="MONDO:Redundant", source="OMIM:616503"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13841 ! ADGRG6
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13841 {source="MONDO:mim2gene_medgen"} ! ADGRG6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014671
name: neuropathy, hereditary motor and sensory, type 6B
def: "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18092", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease, type 6B" EXACT [OMIM:616505]
synonym: "CMT6B" EXACT ABBREVIATION [OMIM:616505]
synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46" EXACT [MONDO:design_pattern]
synonym: "HMSN 6B" EXACT ABBREVIATION [OMIM:616505]
synonym: "HMSN6B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616505]
synonym: "neuropathy, hereditary motor and sensory, type 6B" EXACT CLINGEN_LABEL []
synonym: "neuropathy, hereditary motor and sensory, type VIB" EXACT [MONDO:Lexical, OMIM:616505]
synonym: "SLC25A46 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18092 {source="MONDO:GARD"}
xref: MEDGEN:895482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616505 {source="MONDO:equivalentTo"}
xref: Orphanet:90120 {source="OMIM:616505"}
xref: UMLS:C4225302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895482"}
is_a: MONDO:0002316 {source="DC-OMIM:616505"} ! motor peripheral neuropathy
is_a: MONDO:0019551 {source="MONDO:Redundant", source="Orphanet:90120/btnt"} ! hereditary motor and sensory neuropathy type 6
intersection_of: MONDO:0019551 ! hereditary motor and sensory neuropathy type 6
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25198 ! SLC25A46
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25198 {source="MONDO:mim2gene_medgen"} ! SLC25A46

[Term]
id: MONDO:0014672
name: osteogenesis imperfecta type 17
def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI17" EXACT ABBREVIATION [DOID:0110338, MONDO:Lexical, OMIM:616507]
synonym: "osteogenesis imperfecta caused by mutation in SPARC" EXACT [MONDO:design_pattern]
synonym: "osteogenesis imperfecta type XVII" EXACT [DOID:0110338]
synonym: "osteogenesis imperfecta, type 17" RELATED [OMIM:616507]
synonym: "osteogenesis imperfecta, type XVII" RELATED [MONDO:Lexical, OMIM:616507]
synonym: "SPARC osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110338 {source="MONDO:equivalentTo"}
xref: GARD:16126 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:0110338"}
xref: MEDGEN:903845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616507 {source="DOID:0110338", source="MONDO:equivalentTo"}
xref: Orphanet:216820 {source="OMIM:616507", source="MONDO:directSiblingOf"}
xref: UMLS:C4225301 {source="MEDGEN:903845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="DC-OMIM:616507", source="DOID:0110338", source="MONDO:Redundant", source="OMIM:616507"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0019019 ! osteogenesis imperfecta
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11219 ! SPARC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11219 {source="MONDO:mim2gene_medgen"} ! SPARC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014673
name: cataract 44
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16127", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 44" EXACT [MONDO:Lexical, OMIM:616509]
synonym: "cataract type 44" EXACT [DOID:0110267, MONDORULE:2, OMIM:616509]
synonym: "CTRCT44" EXACT ABBREVIATION [DOID:0110267, MONDO:Lexical, OMIM:616509]
synonym: "early-onset non-syndromic cataract caused by mutation in LSS" EXACT [MONDO:design_pattern]
synonym: "LSS early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "total early-onset cataract" BROAD [DOID:0110267]
xref: DOID:0110267 {source="MONDO:equivalentTo"}
xref: GARD:16127 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="DOID:0110267"}
xref: MEDGEN:907487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616509 {source="MONDO:equivalentTo", source="DOID:0110267"}
xref: Orphanet:91492 {source="OMIM:616509"}
xref: Orphanet:98994 {source="OMIM:616509", source="MONDO:directSiblingOf", source="DOID:0110267"}
xref: UMLS:C4225300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907487"}
is_a: MONDO:0005129 {source="DOID:0110267", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:616509"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6708 ! LSS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6708 {source="MONDO:mim2gene_medgen"} ! LSS

[Term]
id: MONDO:0014674
name: maturity-onset diabetes of the young type 14
def: "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "APPL1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "maturity-onset diabetes of the young (disease) caused by mutation in APPL1" EXACT []
synonym: "maturity-onset diabetes of the young, type 14" RELATED [MONDO:Lexical, OMIM:616511]
synonym: "MODY14" EXACT ABBREVIATION [DOID:0111111, MONDO:Lexical, OMIM:616511]
xref: DOID:0111111 {source="MONDO:equivalentTo"}
xref: GARD:16128 {source="MONDO:GARD"}
xref: MEDGEN:908119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616511 {source="MONDO:equivalentTo", source="DOID:0111111"}
xref: UMLS:C4225299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908119"}
is_a: MONDO:0018911 {source="DC-OMIM:616511", source="DOID:0111111", source="MONDO:Redundant"} ! maturity-onset diabetes of the young
intersection_of: MONDO:0018911 ! maturity-onset diabetes of the young
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24035 ! APPL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24035 {source="MONDO:mim2gene_medgen"} ! APPL1

[Term]
id: MONDO:0014675
name: autosomal recessive nonsyndromic hearing loss 104
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 104" NARROW [DOID:0110465]
synonym: "autosomal recessive nonsyndromic deafness 104" NARROW [OMIM:616515]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 104" NARROW [DOID:0110465, MONDORULE:2]
synonym: "deafness, autosomal recessive 104" NARROW [MONDO:Lexical, OMIM:616515, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 104" NARROW [MONDORULE:2, OMIM:616515]
synonym: "DFNB104" NARROW ABBREVIATION [DOID:0110465, MONDO:Lexical, OMIM:616515]
synonym: "RIPOR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110465 {source="MONDO:equivalentTo"}
xref: GARD:22654 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110465"}
xref: MEDGEN:899775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616515 {source="MONDO:equivalentTo", source="DOID:0110465"}
xref: UMLS:C4225298 {source="MEDGEN:899775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:616515", source="DOID:0110465", source="MONDO:Redundant", source="OMIM:616515"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13872 ! RIPOR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13872 {source="MONDO:mim2gene_medgen"} ! RIPOR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014676
name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
def: "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18209", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "EDMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616516]
synonym: "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive" RELATED [OMIM:616516]
synonym: "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616516]
synonym: "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070248 {source="MONDO:equivalentTo"}
xref: GARD:18209 {source="MONDO:GARD"}
xref: MEDGEN:413212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567633 {source="MONDO:equivalentTo"}
xref: OMIM:616516 {source="MONDO:equivalentTo"}
xref: Orphanet:261 {source="OMIM:616516"}
xref: Orphanet:98855 {source="OMIM:616516"}
xref: UMLS:C2750035 {source="MEDGEN:413212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016830 {source="MESH:C567633", source="MONDO:Redundant", source="OMIM:616516"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA

[Term]
id: MONDO:0014677
name: achromatopsia 7
def: "Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16129", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACHM7" EXACT ABBREVIATION [DOID:0110009, MONDO:Lexical, OMIM:616517]
synonym: "achromatopsia 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616517]
synonym: "achromatopsia caused by mutation in ATF6" EXACT [MONDO:design_pattern]
synonym: "achromatopsia type 7" EXACT [DOID:0110009, MONDORULE:1, OMIM:616517]
synonym: "ATF6 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110009 {source="MONDO:equivalentTo"}
xref: GARD:16129 {source="MONDO:GARD"}
xref: MEDGEN:904646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616517 {source="DOID:0110009", source="MONDO:equivalentTo"}
xref: Orphanet:49382 {source="OMIM:616517"}
xref: UMLS:C4225297 {source="MEDGEN:904646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018852 {source="DC-OMIM:616517", source="DOID:0110009", source="MONDO:Redundant"} ! achromatopsia
is_a: MONDO:0100447 {source="https://clinicalgenome.org/affiliation/40072/"} ! ATF6-related retinopathy
intersection_of: MONDO:0018852 ! achromatopsia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/791 ! ATF6
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/791 {source="MONDO:mim2gene_medgen"} ! ATF6

[Term]
id: MONDO:0014678
name: intellectual disability, autosomal dominant 39
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene." [MONDO:patterns/disease_series_by_gene]
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal dominant intellectual disability 39" EXACT [DOID:0070069]
synonym: "autosomal dominant mental retardation 39" EXACT DEPRECATED [DOID:0070069]
synonym: "autosomal dominant non-syndromic intellectual disability 39" RELATED [DOID:0070069]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L" EXACT [MONDO:design_pattern]
synonym: "chromosome 2P25.3 deletion syndrome" RELATED [OMIM:616521]
synonym: "chromosome 2P25.3 Duplication syndrome" RELATED [OMIM:616521]
synonym: "intellectual developmental disorder, autosomal dominant 39" EXACT [OMIM:616521, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 39" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616521]
synonym: "intellectual disability, autosomal dominant type 39" EXACT [MONDORULE:2, OMIM:616521]
synonym: "mental retardation, autosomal dominant 39" RELATED DEPRECATED [MONDO:Lexical, OMIM:616521]
synonym: "mental retardation, autosomal dominant type 39" EXACT DEPRECATED [MONDORULE:2, OMIM:616521]
synonym: "MRD39" EXACT ABBREVIATION [DOID:0070069, MONDO:Lexical, OMIM:616521]
synonym: "MYT1L autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070069 {source="MONDO:equivalentTo"}
xref: MEDGEN:909304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616521 {source="DOID:0070069", source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="OMIM:616521"}
xref: UMLS:C4225296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909304"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:616521"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7623 ! MYT1L
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7623 {source="MONDO:mim2gene_medgen"} ! MYT1L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014679
name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
subset: gard_rare {source="GARD:16130", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PMGYCHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616531]
synonym: "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" EXACT [MONDO:Lexical, OMIM:616531]
xref: GARD:16130 {source="MONDO:GARD"}
xref: MEDGEN:899982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616531 {source="MONDO:equivalentTo"}
xref: Orphanet:268940 {source="OMIM:616531"}
xref: Orphanet:98889 {source="OMIM:616531"}
xref: UMLS:C4225295 {source="MEDGEN:899982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020340 {source="Orphanet:98889/btnt"} ! bilateral perisylvian polymicrogyria
is_a: MONDO:1040012 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! PI4KA-related disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8983 {source="MONDO:mim2gene_medgen"} ! PI4KA

[Term]
id: MONDO:0014680
name: herpes simplex encephalitis, susceptibility to, 7
def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene." [MONDO:patterns/susceptibility_by_gene]
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7" RELATED [OMIM:616532]
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7" RELATED [OMIM:616532]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 7" RELATED [OMIM:616532]
synonym: "herpes simplex encephalitis caused by mutation in IRF3" EXACT [MONDO:design_pattern]
synonym: "Herpes simplex encephalitis, susceptibility to, 5" RELATED [OMIM:616532]
synonym: "herpes simplex encephalitis, susceptibility to, 7" EXACT [OMIM:616532]
synonym: "Herpes simplex encephalitis, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:616532]
synonym: "IIAE7" RELATED ABBREVIATION [OMIM:616532]
synonym: "IRF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:901850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616532 {source="MONDO:equivalentTo"}
xref: Orphanet:1930 {source="OMIM:616532"}
xref: UMLS:C4225294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901850"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6118 ! IRF3
intersection_of: predisposes_towards MONDO:0100198 ! Mendelian encephalopathy
relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:616532", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced
relationship: excluded_subClassOf MONDO:0012521 {source="Orphanet:1930/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6118 {source="MONDO:mim2gene_medgen"} ! IRF3
relationship: predisposes_towards MONDO:0100198 {source="OMIM:616532", source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0014681
name: thyroid cancer, nonmedullary, 4
def: "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FOXE1 thyroid cancer, nonmedullary" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NMTC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616534]
synonym: "thyroid cancer, nonmedullary caused by mutation in FOXE1" EXACT [MONDO:design_pattern]
synonym: "thyroid cancer, nonmedullary, 4" EXACT [MONDO:Lexical, OMIM:616534]
synonym: "thyroid cancer, nonmedullary, type 4" EXACT [MONDORULE:1, OMIM:616534]
xref: GARD:16132 {source="MONDO:GARD"}
xref: MEDGEN:907624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616534 {source="MONDO:equivalentTo"}
xref: Orphanet:319487 {source="OMIM:616534"}
xref: UMLS:C4225293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907624"}
is_a: MONDO:0005034 ! thyroid gland follicular carcinoma
is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
is_a: MONDO:0017896 {source="MONDO:Redundant", source="OMIM:616534"} ! familial nonmedullary thyroid carcinoma
intersection_of: MONDO:0017896 ! familial nonmedullary thyroid carcinoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3806 ! FOXE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3806 {source="MONDO:mim2gene_medgen"} ! FOXE1

[Term]
id: MONDO:0014682
name: thyroid cancer, nonmedullary, 5
def: "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HABP2 thyroid cancer, nonmedullary" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NMTC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616535]
synonym: "thyroid cancer, nonmedullary caused by mutation in HABP2" EXACT [MONDO:design_pattern]
synonym: "thyroid cancer, nonmedullary, 5" EXACT [MONDO:Lexical, OMIM:616535]
synonym: "thyroid cancer, nonmedullary, type 5" EXACT [MONDORULE:1, OMIM:616535]
xref: GARD:16133 {source="MONDO:GARD"}
xref: MEDGEN:895900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616535 {source="MONDO:equivalentTo"}
xref: Orphanet:319487 {source="OMIM:616535"}
xref: UMLS:C4225292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895900"}
is_a: MONDO:0005034 ! thyroid gland follicular carcinoma
is_a: MONDO:0017895 {source="Orphanet:319487/btnt"} ! familial papillary or follicular thyroid carcinoma
is_a: MONDO:0017896 {source="MONDO:Redundant", source="OMIM:616535"} ! familial nonmedullary thyroid carcinoma
intersection_of: MONDO:0017896 ! familial nonmedullary thyroid carcinoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4798 ! HABP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4798 {source="MONDO:mim2gene_medgen"} ! HABP2

[Term]
id: MONDO:0014683
name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
subset: gard_rare {source="GARD:16134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616538]
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" RELATED [MONDO:Lexical, OMIM:616538]
synonym: "Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related" RELATED [OMIM:616538]
xref: DOID:0111232 {source="MONDO:equivalentTo"}
xref: GARD:16134 {source="MONDO:GARD"}
xref: MEDGEN:902513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616538 {source="MONDO:equivalentTo"}
xref: Orphanet:370997 {source="MONDO:relatedTo", source="OMIM:616538"}
xref: Orphanet:899 {source="MONDO:relatedTo", source="OMIM:616538"}
xref: UMLS:C4225291 {source="MEDGEN:902513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000171 {source="OMIM:616538", source="Orphanet:899/btnt"} ! muscular dystrophy-dystroglycanopathy, type A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2666 {source="MONDO:mim2gene_medgen"} ! DAG1

[Term]
id: MONDO:0014684
name: combined oxidative phosphorylation defect type 26
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17854", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477684"}
subset: orphanet_rare {source="Orphanet:477684"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 26" RELATED [MONDO:Lexical, OMIM:616539]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TRMT5" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 26" EXACT [MONDORULE:2, OMIM:616539]
synonym: "COXPD26" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616539, Orphanet:477684]
synonym: "TRMT5 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111490 {source="MONDO:equivalentTo"}
xref: GARD:17854 {source="MONDO:GARD"}
xref: MEDGEN:1799164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616539 {source="Orphanet:477684", source="MONDO:equivalentTo"}
xref: Orphanet:477684 {source="MONDO:equivalentTo"}
xref: UMLS:C5567741 {source="MEDGEN:1799164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:616539", source="MONDO:Redundant", source="OMIM:616539"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23141 ! TRMT5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23141 {source="MONDO:mim2gene_medgen"} ! TRMT5

[Term]
id: MONDO:0014685
name: progressive myoclonic epilepsy type 9
def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17801", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457265"}
subset: orphanet_rare {source="Orphanet:457265"}
subset: rare
synonym: "epilepsy, progressive myoclonic, 9" RELATED [MONDO:Lexical, OMIM:616540]
synonym: "epilepsy, progressive myoclonic, type 9" EXACT [MONDORULE:1, OMIM:616540]
synonym: "EPM9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616540, Orphanet:457265]
synonym: "LMNB2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PME type 9" EXACT [Orphanet:457265]
synonym: "progressive myoclonic epilepsy caused by mutation in LMNB2" EXACT [MONDO:design_pattern]
synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [Orphanet:457265]
synonym: "progressive myoclonus epilepsy type 9" EXACT [Orphanet:457265]
xref: DOID:0111450 {source="MONDO:equivalentTo"}
xref: GARD:17801 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:457265/attributed", source="Orphanet:457265/ntbt", source="Orphanet:457265"}
xref: MEDGEN:901242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616540 {source="Orphanet:457265/e", source="MONDO:equivalentTo", source="Orphanet:457265"}
xref: Orphanet:457265 {source="MONDO:equivalentTo"}
xref: UMLS:C4225289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901242"}
is_a: MONDO:0020074 {source="DC-OMIM:616540", source="MONDO:Redundant", source="OMIM:616540", source="Orphanet:457265"} ! progressive myoclonus epilepsy
intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6638 ! LMNB2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6638 {source="MONDO:mim2gene_medgen"} ! LMNB2

[Term]
id: MONDO:0014686
name: short stature, microcephaly, and endocrine dysfunction
subset: gard_rare {source="GARD:18483", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short stature, microcephaly, and endocrine dysfunction" EXACT [MONDO:Lexical, OMIM:616541]
synonym: "SSMED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616541]
xref: GARD:18483 {source="MONDO:GARD"}
xref: MEDGEN:895448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616541 {source="MONDO:equivalentTo"}
xref: UMLS:C4225288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895448"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12831 {source="MONDO:mim2gene_medgen"} ! XRCC4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0014687
name: retinitis pigmentosa 73
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16135", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HGSNAT retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 73" EXACT [MONDO:Lexical, OMIM:616544]
synonym: "retinitis pigmentosa caused by mutation in HGSNAT" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 73" EXACT [DOID:0110389, MONDORULE:2, OMIM:616544]
synonym: "RP73" EXACT ABBREVIATION [DOID:0110389, MONDO:Lexical, OMIM:616544]
xref: DOID:0110389 {source="MONDO:equivalentTo"}
xref: GARD:16135 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110389"}
xref: MEDGEN:907690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616544 {source="MONDO:equivalentTo", source="DOID:0110389"}
xref: UMLS:C4225287 {source="MEDGEN:907690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:616544", source="DOID:0110389", source="MONDO:Redundant", source="OMIM:616544"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26527 ! HGSNAT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26527 {source="MONDO:mim2gene_medgen"} ! HGSNAT

[Term]
id: MONDO:0014688
name: short-rib thoracic dysplasia 14 with polydactyly
def: "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23." [DOID:0110096, PMID:26166481]
subset: gard_rare {source="GARD:18467", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short-rib thoracic dysplasia 14 with polydactyly" EXACT [MONDO:Lexical, OMIM:616546]
synonym: "SRTD14" EXACT ABBREVIATION [DOID:0110096, MONDO:Lexical, OMIM:616546]
xref: DOID:0110096 {source="MONDO:equivalentTo"}
xref: GARD:18467 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="DOID:0110096"}
xref: MEDGEN:901479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616546 {source="MONDO:equivalentTo", source="DOID:0110096"}
xref: UMLS:C4225286 {source="MEDGEN:901479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018342 {source="Orphanet:Inferred"} ! Joubert syndrome with Jeune asphyxiating thoracic dystrophy
is_a: MONDO:0018770 {source="DOID:0110096", source="OMIM:616546"} ! Jeune syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19960 {source="MONDO:mim2gene_medgen"} ! KIAA0586

[Term]
id: MONDO:0014689
name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447974"}
subset: ordo_malformation_syndrome {source="Orphanet:447974"}
subset: orphanet_rare {source="Orphanet:447974"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KFS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616549]
synonym: "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" EXACT CLINGEN_LABEL []
synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:616549]
synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" RELATED [OMIM:616549]
xref: DOID:0080592 {source="MONDO:equivalentTo"}
xref: GARD:17778 {source="MONDO:GARD"}
xref: ICD10CM:Q76.1 {source="Orphanet:447974", source="Orphanet:447974/attributed", source="Orphanet:447974/ntbt"}
xref: MEDGEN:894399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616549 {source="Orphanet:447974", source="MONDO:equivalentTo", source="Orphanet:447974/e"}
xref: Orphanet:447974 {source="MONDO:equivalentTo"}
xref: UMLS:C4225285 {source="MEDGEN:894399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001029 {source="OMIM:616549"} ! Klippel-Feil syndrome
is_a: MONDO:0019952 {source="Orphanet:447974"} ! congenital myopathy
relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18150 {source="MONDO:mim2gene_medgen"} ! MYO18B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014690
name: dyskeratosis congenita, autosomal dominant 6
def: "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1." [DOID:0070023]
subset: gard_rare {source="GARD:16136", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant dyskeratosis congenita 6" RELATED [DOID:0070023]
synonym: "DKCA6" EXACT ABBREVIATION [DOID:0070023, MONDO:Lexical, OMIM:616553]
synonym: "dyskeratosis congenita, autosomal dominant 6" EXACT [MONDO:Lexical, OMIM:616553]
synonym: "dyskeratosis congenita, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:616553]
synonym: "dyskeratosis congenita, autosomal recessive 7" RELATED [OMIM:616553]
xref: DOID:0070023 {source="MONDO:equivalentTo"}
xref: GARD:16136 {source="MONDO:GARD"}
xref: MEDGEN:904824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176924 {source="MONDO:equivalentTo"}
xref: OMIM:616553 {source="DOID:0070023", source="MONDO:equivalentTo"}
xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:616553"}
xref: Orphanet:397692 {source="OMIM:616553"}
xref: UMLS:C4225284 {source="MEDGEN:904824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0015780 {source="DOID:0070023", source="MONDO:Redundant", source="OMIM:616553"} ! dyskeratosis congenita
is_a: MONDO:0100569 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD-related short telomere syndrome
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 ! ACD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 {source="MONDO:mim2gene_medgen"} ! ACD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI

[Term]
id: MONDO:0014691
name: Noonan syndrome 9
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Noonan syndrome 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616559]
synonym: "Noonan syndrome caused by mutation in SOS2" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 9" EXACT [DOID:0060587, MONDORULE:1, OMIM:616559]
synonym: "NS9" EXACT ABBREVIATION [DOID:0060587, MONDO:Lexical, OMIM:616559]
synonym: "SOS2 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060587 {source="MONDO:equivalentTo"}
xref: GARD:16137 {source="MONDO:GARD"}
xref: MEDGEN:896352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176937 {source="MONDO:equivalentTo"}
xref: OMIM:616559 {source="DOID:0060587", source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:616559"}
xref: UMLS:C4225282 {source="MEDGEN:896352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018997 {source="DC-OMIM:616559", source="DOID:0060587", source="MONDO:Redundant", source="OMIM:616559"} ! Noonan syndrome
intersection_of: MONDO:0018997 ! Noonan syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11188 ! SOS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11188 {source="MONDO:mim2gene_medgen"} ! SOS2

[Term]
id: MONDO:0014692
name: retinitis pigmentosa 74
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BBS2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 74" EXACT [MONDO:Lexical, OMIM:616562]
synonym: "retinitis pigmentosa caused by mutation in BBS2" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 74" EXACT [DOID:0110401, MONDORULE:2, OMIM:616562]
synonym: "RP74" EXACT ABBREVIATION [DOID:0110401, MONDO:Lexical, OMIM:616562]
xref: DOID:0110401 {source="MONDO:equivalentTo"}
xref: GARD:16138 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0110401", source="MONDO:relatedTo"}
xref: MEDGEN:906896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616562 {source="DOID:0110401", source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:616562"}
xref: UMLS:C4225281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906896"}
is_a: MONDO:0019200 {source="DC-OMIM:616562", source="DOID:0110401", source="MONDO:Redundant", source="OMIM:616562"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/967 ! BBS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/967 {source="MONDO:mim2gene_medgen"} ! BBS2

[Term]
id: MONDO:0014693
name: Noonan syndrome 10
def: "Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LZTR1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Noonan syndrome 10" EXACT [MONDO:Lexical, OMIM:616564]
synonym: "Noonan syndrome caused by mutation in LZTR1" EXACT [MONDO:design_pattern]
synonym: "Noonan syndrome type 10" EXACT [DOID:0060588, MONDORULE:2, OMIM:616564]
synonym: "NS10" EXACT ABBREVIATION [DOID:0060588, MONDO:Lexical, OMIM:616564]
xref: DOID:0060588 {source="MONDO:equivalentTo"}
xref: GARD:16139 {source="MONDO:GARD"}
xref: MEDGEN:902892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176938 {source="MONDO:equivalentTo"}
xref: OMIM:616564 {source="MONDO:equivalentTo", source="DOID:0060588"}
xref: Orphanet:648 {source="OMIM:616564"}
xref: UMLS:C4225280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902892"}
is_a: MONDO:0018997 {source="DC-OMIM:616564", source="DOID:0060588", source="MONDO:Redundant", source="OMIM:616564"} ! Noonan syndrome
intersection_of: MONDO:0018997 ! Noonan syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6742 ! LZTR1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6742 {source="MONDO:mim2gene_medgen"} ! LZTR1

[Term]
id: MONDO:0014694
name: spondylocostal dysostosis 6, autosomal recessive
def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:12807", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2" EXACT [MONDO:design_pattern]
synonym: "RIPPLY2 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCDO6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616566]
synonym: "spondylocostal dysostosis 6" RELATED [GARD:0012807]
synonym: "spondylocostal dysostosis 6, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616566]
xref: DOID:0112360 {source="MONDO:equivalentTo"}
xref: GARD:12807 {source="MONDO:GARD"}
xref: MEDGEN:899713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616566 {source="MONDO:equivalentTo"}
xref: Orphanet:2311 {source="OMIM:616566"}
xref: UMLS:C4225279 {source="MONDO:equivalentTo", source="MEDGEN:899713", source="MONDO:MEDGEN"}
is_a: MONDO:0000359 {source="MONDO:Redundant", source="OMIM:616566"} ! spondylocostal dysostosis
is_a: MONDO:0010180 {source="MONDO:Redundant", source="Orphanet:2311/btnt"} ! autosomal recessive spondylocostal dysostosis
intersection_of: MONDO:0010180 ! autosomal recessive spondylocostal dysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21390 ! RIPPLY2
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21390 {source="MONDO:mim2gene_medgen"} ! RIPPLY2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014695
name: obsolete glioma susceptibility 9
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6714" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014368

[Term]
id: MONDO:0014696
name: cerebrooculofacioskeletal syndrome 3
subset: gard_rare {source="GARD:16140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebrooculofacioskeletal syndrome 3" EXACT [MONDO:Lexical, OMIM:616570]
synonym: "cerebrooculofacioskeletal syndrome type 3" EXACT [MONDORULE:1, OMIM:616570]
synonym: "COFS3" EXACT ABBREVIATION [OMIM:616570]
xref: DOID:0080913 {source="MONDO:equivalentTo"}
xref: GARD:16140 {source="MONDO:GARD"}
xref: MEDGEN:342008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565035 {source="MONDO:equivalentTo"}
xref: OMIM:616570 {source="MONDO:equivalentTo"}
xref: Orphanet:1466 {source="OMIM:616570"}
xref: Orphanet:191 {source="OMIM:616570"}
xref: UMLS:C1851443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342008"}
is_a: MONDO:0008926 {source="DC-OMIM:616570", source="OMIM:616570"} ! COFS syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616570"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3437 {source="MONDO:mim2gene_medgen"} ! ERCC5

[Term]
id: MONDO:0014697
name: immunodeficiency, common variable, 12
def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16141", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "common variable immunodeficiency caused by mutation in NFKB1" EXACT [MONDO:design_pattern]
synonym: "CVID12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616576]
synonym: "immunodeficiency, common variable, 12" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616576]
synonym: "immunodeficiency, common variable, type 12" EXACT [MONDORULE:2, OMIM:616576]
synonym: "NFKB1 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "NFKB1 deficiency" RELATED [OMIM:616576]
xref: DOID:0081154 {source="MONDO:equivalentTo"}
xref: GARD:16141 {source="MONDO:GARD"}
xref: MEDGEN:906018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616576 {source="MONDO:equivalentTo"}
xref: UMLS:C4225277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906018"}
is_a: MONDO:0015517 {source="DC-OMIM:616576", source="MONDO:Redundant", source="OMIM:616576"} ! common variable immunodeficiency
intersection_of: MONDO:0015517 ! common variable immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7794 ! NFKB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7794 {source="MONDO:mim2gene_medgen"} ! NFKB1

[Term]
id: MONDO:0014698
name: microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
subset: gard_rare {source="GARD:17804", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457351"}
subset: ordo_malformation_syndrome {source="Orphanet:457351"}
subset: orphanet_rare {source="Orphanet:457351"}
subset: rare
synonym: "EHLMRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:616577]
synonym: "epilepsy, hearing loss, and intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:616577]
synonym: "epilepsy, hearing loss, and mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:616577]
synonym: "microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome" EXACT [Orphanet:457351]
synonym: "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" EXACT [OMIM:616577, OMIM:genemap2]
xref: GARD:17804 {source="MONDO:GARD"}
xref: MEDGEN:895574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616577 {source="Orphanet:457351/e", source="MONDO:equivalentTo", source="Orphanet:457351"}
xref: Orphanet:457351 {source="MONDO:equivalentTo"}
xref: UMLS:C4225276 {source="MEDGEN:895574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="Orphanet:457351"} ! eye disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:457351", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18119 {source="MONDO:mim2gene_medgen"} ! AFG2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014699
name: intellectual disability, autosomal dominant 40
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13539", source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant intellectual disability 40" EXACT [DOID:0070070]
synonym: "autosomal dominant mental retardation 40" EXACT DEPRECATED [DOID:0070070]
synonym: "autosomal dominant non-syndromic intellectual disability 40" RELATED [DOID:0070070]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1" EXACT [MONDO:design_pattern]
synonym: "CHAMP1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal dominant 40" EXACT [MONDO:Lexical, OMIM:616579]
synonym: "intellectual disability, autosomal dominant type 40" EXACT [MONDORULE:2, OMIM:616579]
synonym: "mental retardation, autosomal dominant 40" RELATED DEPRECATED [MONDO:Lexical, OMIM:616579]
synonym: "mental retardation, autosomal dominant type 40" EXACT DEPRECATED [MONDORULE:2, OMIM:616579]
synonym: "MRD40" EXACT ABBREVIATION [DOID:0070070, MONDO:Lexical, OMIM:616579]
xref: DOID:0070070 {source="MONDO:equivalentTo"}
xref: GARD:13539 {source="MONDO:GARD"}
xref: MEDGEN:1810363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616579 {source="MONDO:equivalentTo", source="DOID:0070070"}
xref: UMLS:C5676894 {source="MEDGEN:1810363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:616579"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20311 ! CHAMP1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20311 {source="MONDO:mim2gene_medgen"} ! CHAMP1

[Term]
id: MONDO:0014700
name: Au-Kline syndrome
subset: gard_rare {source="GARD:4064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:453504"}
subset: ordo_malformation_syndrome {source="Orphanet:2729"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:453504"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Au-Kline syndrome" EXACT [OMIM:616580, Orphanet:453504]
synonym: "AUKS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616580]
synonym: "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability" RELATED [GARD:0004064]
synonym: "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation" RELATED DEPRECATED [GARD:0004064]
synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability" EXACT [OMIM:604916]
synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" EXACT DEPRECATED [OMIM:604916]
synonym: "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" EXACT CLINGEN_LABEL [Orphanet:453504]
synonym: "Okamoto syndrome" EXACT [OMIM:604916]
xref: GARD:4064 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2729/attributed", source="Orphanet:2729/ntbt", source="Orphanet:2729"}
xref: MEDGEN:900671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565736 {source="MONDO:equivalentTo"}
xref: OMIM:604916 {source="MONDO:equivalentObsolete", source="Orphanet:2729/e", source="Orphanet:2729"}
xref: OMIM:616580 {source="MONDO:equivalentTo", source="Orphanet:453504", source="Orphanet:453504/e"}
xref: Orphanet:2729 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:604916"}
xref: Orphanet:453504 {source="MONDO:equivalentTo"}
xref: SCTID:722065002 {source="MONDO:equivalentTo"}
xref: UMLS:C4225274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900671"}
is_a: MONDO:0015159 {source="Orphanet:2729"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018681 {source="Orphanet:453504", source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2729", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic SO:1000008 ! point_mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5044 {source="MONDO:mim2gene_medgen"} ! HNRNPK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6335" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome" xsd:anyURI {source="GARD:0004064"}

[Term]
id: MONDO:0014701
name: spondyloepiphyseal dysplasia, Stanescu type
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17812", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:459051"}
subset: orphanet_rare {source="Orphanet:459051"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SED, Stanescu type" EXACT [OMIM:616583, Orphanet:459051]
synonym: "SEDSTN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616583]
synonym: "spondyloepiphyseal dysplasia, Stanescu type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616583]
xref: DOID:0112281 {source="MONDO:equivalentTo"}
xref: GARD:17812 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:459051", source="Orphanet:459051/attributed", source="Orphanet:459051/ntbt"}
xref: MEDGEN:905084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616583 {source="MONDO:equivalentTo", source="Orphanet:459051", source="Orphanet:459051/e"}
xref: Orphanet:459051 {source="MONDO:equivalentTo"}
xref: UMLS:C4225273 {source="MEDGEN:905084", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016761 {source="Orphanet:459051"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0022800 {source="Orphanet:459051", source="PMID:31633310"} ! type 2 collagenopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014702
name: autosomal recessive complex spastic paraplegia type 9B
def: "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: the DO definition is hereditary spastic paraplegia that has material basis in mutation in the ALDH18A1, but this does not differentiate from 9A.
subset: gard_rare {source="GARD:17770", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447760"}
subset: orphanet_rare {source="Orphanet:447760"}
subset: rare
synonym: "ALDH18A1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "AR-SPG9B" EXACT [Orphanet:447760]
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive complex spastic paraplegia type 9B" EXACT [DOID:0110825]
synonym: "autosomal recessive spastic paraplegia 9B" EXACT [DOID:0110825]
synonym: "hereditary spastic paraplegia 9B" RELATED [DOID:0110825]
synonym: "hereditary spastic paraplegia type 9B" EXACT [DOID:0110825, MONDORULE:4]
synonym: "spastic paraplegia 9B, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616586]
synonym: "SPG9B" EXACT ABBREVIATION [DOID:0110825, MONDO:Lexical, OMIM:616586]
xref: DOID:0110825 {source="MONDO:equivalentTo"}
xref: GARD:17770 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110825", source="Orphanet:447760/attributed", source="Orphanet:447760/ntbt", source="Orphanet:447760"}
xref: MEDGEN:1800403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616586 {source="Orphanet:447760/e", source="MONDO:equivalentTo", source="DOID:0110825", source="Orphanet:447760"}
xref: Orphanet:447760 {source="MONDO:equivalentTo", source="DOID:0110825"}
xref: UMLS:C5568980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800403"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110825", source="MONDO:0014702/inferred", source="MONDO:Redundant", source="OMIM:616586", source="Orphanet:447760/inferred", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:447760", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="MONDO:mim2gene_medgen"} ! ALDH18A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/Orphanet/ORDO/issues/8" xsd:anyURI

[Term]
id: MONDO:0014703
name: Adams-Oliver syndrome 6
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Adams-Oliver syndrome 6" EXACT [MONDO:Lexical, OMIM:616589]
synonym: "Adams-Oliver syndrome caused by mutation in DLL4" EXACT [MONDO:design_pattern]
synonym: "Adams-Oliver syndrome type 6" EXACT [MONDORULE:1, OMIM:616589]
synonym: "AOS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616589]
synonym: "DLL4 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16142 {source="MONDO:GARD"}
xref: MEDGEN:908556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616589 {source="MONDO:equivalentTo"}
xref: UMLS:C4225271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908556"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:616589", source="Orphanet:974/btnt"} ! Adams-Oliver syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0007034 ! Adams-Oliver syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2910 ! DLL4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2910 {source="MONDO:mim2gene_medgen"} ! DLL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014704
name: skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
subset: gard_rare {source="GARD:17860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477831"}
subset: ordo_malformation_syndrome {source="Orphanet:477831"}
subset: orphanet_rare {source="Orphanet:477831"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KOGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616592]
synonym: "Kosaki overgrowth syndrome" EXACT [MONDO:Lexical, OMIM:616592, Orphanet:477831]
synonym: "skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration" RELATED [OMIM:616592]
xref: GARD:17860 {source="MONDO:GARD"}
xref: MEDGEN:896409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616592 {source="Orphanet:477831", source="MONDO:equivalentTo"}
xref: Orphanet:477831 {source="MONDO:equivalentTo"}
xref: UMLS:C4225270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896409"}
is_a: MONDO:0018230 {source="Orphanet:477831", source="Orphanet:477831/inferred"} ! skeletal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen"} ! PDGFRB

[Term]
id: MONDO:0014705
name: craniosynostosis 6
def: "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "craniosynostosis 6" EXACT [MONDO:Lexical, OMIM:616602]
synonym: "craniosynostosis caused by mutation in ZIC1" EXACT [MONDO:design_pattern]
synonym: "craniosynostosis type 6" EXACT [MONDORULE:1, OMIM:616602]
synonym: "CRS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616602]
synonym: "ZIC1 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18048 {source="MONDO:GARD"}
xref: MEDGEN:904675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616602 {source="MONDO:equivalentTo"}
xref: UMLS:C4225269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904675"}
is_a: MONDO:0015469 {source="MONDO:Redundant", source="OMIM:616602", source="https://orcid.org/0000-0002-6601-2165"} ! craniosynostosis
is_a: MONDO:0018971 {source="Orphanet:63440/btnt"} ! isolated oxycephaly
intersection_of: MONDO:0015469 ! craniosynostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12872 ! ZIC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12872 {source="MONDO:mim2gene_medgen"} ! ZIC1

[Term]
id: MONDO:0014706
name: cutis laxa, autosomal dominant 3
def: "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." [DOID:0070131]
subset: gard_rare {source="GARD:16143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADCL3" EXACT ABBREVIATION [DOID:0070131, MONDO:Lexical, OMIM:616603]
synonym: "autosomal dominant cutis laxa 3" RELATED [DOID:0070131]
synonym: "cutis laxa, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:616603]
synonym: "cutis laxa, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:616603]
xref: DOID:0070131 {source="MONDO:equivalentTo"}
xref: GARD:16143 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070131"}
xref: MEDGEN:899774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616603 {source="DOID:0070131", source="MONDO:equivalentTo"}
xref: UMLS:C4225268 {source="MEDGEN:899774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019571 {source="DOID:0070131", source="MONDO:Redundant", source="Orphanet:90348/btnt"} ! autosomal dominant cutis laxa
is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency
is_a: MONDO:0100237 {source="DOID:0070131/inferred", source="MONDO:Redundant", source="OMIM:616603"} ! inherited cutis laxa
intersection_of: MONDO:0100237 ! inherited cutis laxa
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 ! ALDH18A1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:616603"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="MONDO:mim2gene_medgen"} ! ALDH18A1

[Term]
id: MONDO:0014707
name: 14q32 duplication syndrome
def: "14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed." [Orphanet:488280]
subset: gard_rare {source="GARD:17890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488280"}
subset: orphanet_rare {source="Orphanet:488280"}
subset: rare
synonym: "chromosome 14q32 DUPLICATION syndrome, 700-KB" RELATED [OMIM:616604]
synonym: "dup(14)q(32)" EXACT [Orphanet:488280]
synonym: "myeloproliferative neoplasms, familial, susceptibility to" RELATED [OMIM:616604]
synonym: "predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication" EXACT [Orphanet:488280]
synonym: "trisomy 14q32" EXACT [Orphanet:488280]
xref: GARD:17890 {source="MONDO:GARD"}
xref: MEDGEN:896239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616604 {source="MONDO:equivalentTo", source="Orphanet:488280"}
xref: Orphanet:488280 {source="MONDO:equivalentTo"}
xref: UMLS:C4225449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896239"}
is_a: MONDO:0000762 {source="DC-OMIM:616604"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016964 {source="Orphanet:488280"} ! partial duplication of the long arm of chromosome 14
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr14q32 ! 14q32 (Human)
relationship: excluded_subClassOf MONDO:0020076 {source="Orphanet:488280", source="https://orcid.org/0000-0001-5208-3432"} ! myeloproliferative neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0014708
name: ring chromosome 14
def: "Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears." [Orphanet:1440]
subset: gard_rare {source="GARD:6072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:939"}
subset: ordo_disorder {source="Orphanet:1440"}
subset: ordo_malformation_syndrome {source="Orphanet:1440"}
subset: orphanet_rare {source="Orphanet:1440"}
subset: rare
synonym: "Chromosome 14 Ring" EXACT [NORD:939]
synonym: "chromosome 14 ring" RELATED [GARD:0006072]
synonym: "Ring 14" RELATED [GARD:0006072]
synonym: "RING chromosome 14 syndrome" RELATED [OMIM:616606]
synonym: "ring chromosome 14 syndrome, isolated cases" EXACT [OMIM:616606, OMIM:genemap2]
synonym: "Ring chromosome type 14" EXACT [MONDORULE:2, Orphanet:1440]
xref: GARD:6072 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1440", source="Orphanet:1440/attributed", source="Orphanet:1440/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:419284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535487 {source="Orphanet:1440", source="MONDO:equivalentTo", source="Orphanet:1440/e"}
xref: NORD:939 {source="MONDO:NORD"}
xref: OMIM:616606 {source="Orphanet:1440", source="MONDO:equivalentTo", source="Orphanet:1440/e"}
xref: Orphanet:1440 {source="MONDO:equivalentTo"}
xref: SCTID:702345009 {source="MONDO:equivalentTo"}
xref: UMLS:C2930916 {source="MEDGEN:419284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr14 ! chromosome 14 (Human)
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14" xsd:anyURI {source="GARD:0006072"}

[Term]
id: MONDO:0014709
name: obsolete Heimler syndrome 2
synonym: "HEIMLER syndrome 2" RELATED [OMIM:616617]
synonym: "Heimler syndrome 2" EXACT [MONDO:Lexical, OMIM:616617]
synonym: "Heimler syndrome type 2" EXACT [MONDORULE:1, OMIM:616617]
synonym: "HMLR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616617]
synonym: "peroxisome biogenesis disorder 4C" RELATED [OMIM:616617]
xref: DOID:0080624 {source="MONDO:obsoleteEquivalent"}
xref: GARD:16144 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:616617 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3222" xsd:anyURI
is_obsolete: true
consider: MONDO:0100263

[Term]
id: MONDO:0014710
name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
def: "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene." [MONDO:patterns/disease_series_by_gene]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477857"}
subset: orphanet_rare {source="Orphanet:477857"}
subset: predisposition
subset: rare
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC" EXACT []
synonym: "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT [Orphanet:477857]
synonym: "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT [Orphanet:477857]
synonym: "IMD42" EXACT ABBREVIATION [OMIM:616622]
synonym: "immunodeficiency 42" EXACT [OMIM:616622]
synonym: "immunodeficiency type 42" EXACT [MONDORULE:2, OMIM:616622]
synonym: "RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0111940 {source="MONDO:equivalentTo"}
xref: MEDGEN:1799070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616622 {source="MONDO:equivalentTo", source="Orphanet:477857"}
xref: Orphanet:477857 {source="MONDO:equivalentTo"}
xref: UMLS:C5567647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799070"}
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10260 {source="MONDO:mim2gene_medgen"} ! RORC

[Term]
id: MONDO:0014711
name: autosomal dominant Charcot-Marie-Tooth disease type 2W
def: "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488333"}
subset: orphanet_rare {source="Orphanet:488333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2W" EXACT [DOID:0110162]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation" EXACT [Orphanet:488333]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HARS" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal type 2W" RELATED [DOID:0110162]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W" RELATED [OMIM:616625]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2W" RELATED [OMIM:616625]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2w" EXACT [OMIM:616625]
synonym: "Charcot-Marie-Tooth neuropathy type 2W" EXACT [DOID:0110162]
synonym: "Charcot-Marie-Tooth neuropathy, type 2W" RELATED [OMIM:616625]
synonym: "CMT2W" EXACT ABBREVIATION [DOID:0110162, OMIM:616625, Orphanet:488333]
synonym: "HARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110162 {source="MONDO:equivalentTo"}
xref: GARD:17891 {source="MONDO:GARD"}
xref: MEDGEN:1798909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616625 {source="Orphanet:488333", source="MONDO:equivalentTo", source="DOID:0110162"}
xref: Orphanet:488333 {source="MONDO:equivalentTo"}
xref: UMLS:C5567486 {source="MONDO:equivalentTo", source="MEDGEN:1798909", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110162/inferred", source="MONDO:Redundant", source="OMIM:616625", source="Orphanet:488333/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110162", source="MONDO:Redundant", source="Orphanet:488333"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4816 ! HARS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4816 {source="MONDO:mim2gene_medgen"} ! HARS1

[Term]
id: MONDO:0014712
name: Senior-Loken syndrome 9
def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Senior-Loken syndrome 9" EXACT [OMIM:616629]
synonym: "Senior-Loken syndrome 9; SLSN9" EXACT []
synonym: "Senior-Loken syndrome caused by mutation in TRAF3IP1" EXACT [MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 9" EXACT [MONDORULE:1, OMIM:616629]
synonym: "SLSN9" EXACT ABBREVIATION [OMIM:616629]
synonym: "TRAF3IP1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16145 {source="MONDO:GARD"}
xref: MEDGEN:899086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616629 {source="MONDO:equivalentTo"}
xref: UMLS:C4225263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899086"}
is_a: MONDO:0017842 {source="DC-OMIM:616629", source="MONDO:Redundant", source="OMIM:616629"} ! Senior-Loken syndrome
intersection_of: MONDO:0017842 ! Senior-Loken syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17861 ! TRAF3IP1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616629"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17861 {source="MONDO:mim2gene_medgen"} ! TRAF3IP1

[Term]
id: MONDO:0014713
name: porokeratosis 9, multiple types
def: "Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16146", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FDPS porokeratosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POROK9" EXACT ABBREVIATION [OMIM:616631]
synonym: "porokeratosis (disease) caused by mutation in FDPS" EXACT []
synonym: "porokeratosis 9, multiple types" EXACT [OMIM:616631]
synonym: "porokeratosis 9, multiple types; POROK9" EXACT []
xref: GARD:16146 {source="MONDO:GARD"}
xref: MEDGEN:894586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616631 {source="MONDO:equivalentTo"}
xref: UMLS:C4225262 {source="MEDGEN:894586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006602 {source="MONDO:Redundant", source="OMIM:616631"} ! porokeratosis
is_a: MONDO:0019212 {source="Orphanet:79152/btnt"} ! disseminated superficial actinic porokeratosis
intersection_of: MONDO:0006602 ! porokeratosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3631 ! FDPS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3631 {source="MONDO:mim2gene_medgen"} ! FDPS

[Term]
id: MONDO:0014714
name: progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
def: "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal." [Orphanet:477814]
subset: gard_rare {source="GARD:17858", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477814"}
subset: ordo_malformation_syndrome {source="Orphanet:477814"}
subset: orphanet_rare {source="Orphanet:477814"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCBMS" EXACT ABBREVIATION [OMIM:616632]
synonym: "seizures, cortical blindness, and microcephaly syndrome" RELATED [OMIM:616632]
synonym: "seizures, cortical blindness, microcephaly syndrome" EXACT [OMIM:616632]
xref: GARD:17858 {source="MONDO:GARD"}
xref: MEDGEN:1799073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616632 {source="MONDO:equivalentTo", source="Orphanet:477814"}
xref: Orphanet:477814 {source="MONDO:equivalentTo"}
xref: UMLS:C5567650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799073"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2876 {source="MONDO:mim2gene_medgen"} ! DIAPH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0014715
name: primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
def: "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis." [Orphanet:431166]
subset: gard_rare {source="GARD:17711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431166"}
subset: orphanet_rare {source="Orphanet:431166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD44" EXACT ABBREVIATION [OMIM:616636]
synonym: "immunodeficiency 44" EXACT [OMIM:616636]
synonym: "immunodeficiency type 44" EXACT [MONDORULE:2, OMIM:616636]
synonym: "primary immunodeficiency with post-MMR vaccine viral infection" EXACT [Orphanet:431166]
xref: DOID:0111975 {source="MONDO:equivalentTo"}
xref: GARD:17711 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:431166", source="Orphanet:431166/attributed", source="Orphanet:431166/ntbt"}
xref: MEDGEN:904009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200770 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:616636 {source="Orphanet:431166", source="MONDO:equivalentTo", source="Orphanet:431166/e"}
xref: Orphanet:431166 {source="MONDO:equivalentTo"}
xref: UMLS:C4225260 {source="MEDGEN:904009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11363 {source="MONDO:mim2gene_medgen"} ! STAT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014716
name: macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
def: "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others." [Orphanet:457485]
subset: gard_rare {source="GARD:13636", source="MONDO:GARD"}
subset: nord_rare {source="NORD:91167", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457485"}
subset: ordo_malformation_syndrome {source="Orphanet:457485"}
subset: orphanet_rare {source="Orphanet:457485"}
subset: rare
synonym: "macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism" RELATED [OMIM:616638]
synonym: "macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism" RELATED DEPRECATED [OMIM:616638]
synonym: "MINDS syndrome" EXACT [Orphanet:457485]
synonym: "SKS" RELATED ABBREVIATION [OMIM:616638]
synonym: "SMITH-Kingsmore syndrome" RELATED [OMIM:616638]
synonym: "Smith-Kingsmore Syndrome" EXACT [NORD:91167]
synonym: "Smith-Kingsmore syndrome" EXACT [OMIM:616638]
xref: GARD:13636 {source="MONDO:GARD"}
xref: MEDGEN:899689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:91167 {source="MONDO:NORD"}
xref: OMIM:616638 {source="Orphanet:457485/e", source="MONDO:equivalentTo", source="Orphanet:457485"}
xref: Orphanet:457485 {source="MONDO:equivalentTo"}
xref: UMLS:C4225259 {source="MEDGEN:899689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="EFO:0009050", source="Orphanet:457485"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457485", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3942 {source="MONDO:mim2gene_medgen"} ! MTOR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014717
name: early-onset Lafora body disease
def: "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades." [Orphanet:324290]
subset: gard_rare {source="GARD:17482", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324290"}
subset: orphanet_rare {source="Orphanet:324290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, progressive myoclonic, 10" EXACT [OMIM:616640]
synonym: "epilepsy, progressive myoclonic, type 10" EXACT [MONDORULE:2, OMIM:616640]
synonym: "EPM10" EXACT ABBREVIATION [OMIM:616640]
xref: DOID:0111445 {source="MONDO:equivalentTo"}
xref: GARD:17482 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:324290", source="Orphanet:324290/attributed", source="Orphanet:324290/ntbt"}
xref: MEDGEN:907932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616640 {source="MONDO:equivalentTo", source="Orphanet:324290", source="Orphanet:324290/e"}
xref: Orphanet:324290 {source="MONDO:equivalentTo"}
xref: SCTID:733082001 {source="MONDO:equivalentTo"}
xref: UMLS:C4225258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907932"}
is_a: MONDO:0020074 {source="DC-OMIM:616640", source="OMIM:616640", source="Orphanet:324290"} ! progressive myoclonus epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13993 {source="MONDO:mim2gene_medgen"} ! PRDM8

[Term]
id: MONDO:0014718
name: developmental and epileptic encephalopathy, 34
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16147", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE34" EXACT ABBREVIATION [OMIM:616645]
synonym: "developmental and epileptic encephalopathy 34" EXACT [OMIM:616645, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC12A5" EXACT [MONDO:design_pattern]
synonym: "EIEE34" EXACT ABBREVIATION [OMIM:616645]
synonym: "epileptic encephalopathy, early infantile, 34" EXACT [OMIM:616645]
synonym: "epileptic encephalopathy, early infantile, 34; EIEE34" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 34" EXACT [MONDORULE:2, OMIM:616645]
synonym: "SLC12A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080460 {source="MONDO:equivalentTo"}
xref: GARD:16147 {source="MONDO:GARD"}
xref: MEDGEN:899149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616645 {source="MONDO:equivalentTo"}
xref: UMLS:C4225257 {source="MEDGEN:899149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017385 {source="Orphanet:293181/btnt"} ! malignant migrating partial seizures of infancy
is_a: MONDO:0100062 {source="DC-OMIM:616645", source="MONDO:Redundant", source="OMIM:616645"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13818 ! SLC12A5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13818 {source="MONDO:mim2gene_medgen"} ! SLC12A5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014719
name: developmental and epileptic encephalopathy, 35
subset: gard_rare {source="GARD:17806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457375"}
subset: orphanet_rare {source="Orphanet:457375"}
subset: rare
synonym: "DEE35" EXACT ABBREVIATION [OMIM:616647]
synonym: "developmental and epileptic encephalopathy 35" EXACT [OMIM:616647, OMIM:genemap2]
synonym: "EIEE35" EXACT ABBREVIATION [OMIM:616647]
synonym: "epileptic encephalopathy, early infantile, 35" EXACT [OMIM:616647]
synonym: "epileptic encephalopathy, early infantile, type 35" EXACT [MONDORULE:2, OMIM:616647]
synonym: "ITPA-related encephalopathy" EXACT [DOID:0080458]
xref: DOID:0080458 {source="MONDO:equivalentTo"}
xref: GARD:17806 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:457375/attributed", source="Orphanet:457375/ntbt", source="Orphanet:457375"}
xref: MEDGEN:904159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616647 {source="Orphanet:457375/e", source="MONDO:equivalentTo", source="Orphanet:457375"}
xref: Orphanet:457375 {source="MONDO:equivalentTo"}
xref: UMLS:C4225256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904159"}
is_a: MONDO:0019236 {source="Orphanet:457375"} ! inborn disorder of purine metabolism
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:457375"} ! inherited neurodegenerative disorder
is_a: MONDO:0100062 {source="DC-OMIM:616647", source="OMIM:616647"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6176 {source="MONDO:mim2gene_medgen"} ! ITPA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014720
name: autosomal dominant optic atrophy plus syndrome
def: "Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness." [Orphanet:1215]
subset: gard_rare {source="GARD:5243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1215"}
subset: orphanet_rare {source="Orphanet:1215"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DOA+" EXACT [Orphanet:1215]
synonym: "dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy" RELATED [GARD:0005243]
synonym: "optic atrophy - deafness- polyneuropathy - myopathy" RELATED [GARD:0005243]
synonym: "optic atrophy type 8" EXACT [MONDORULE:1, OMIM:616648]
synonym: "optic atrophy-deafness-polyneuropathy-myopathy syndrome" EXACT [Orphanet:1215]
synonym: "Treft-Sanborn-Carey syndrome" RELATED [GARD:0005243]
xref: DOID:0111340 {source="MONDO:equivalentTo"}
xref: GARD:5243 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:1215", source="Orphanet:1215/attributed", source="Orphanet:1215/ntbt"}
xref: MESH:C535351 {source="Orphanet:1215", source="Orphanet:1215/e"}
xref: Orphanet:1215 {source="MONDO:equivalentTo"}
xref: SCTID:715374003 {source="MONDO:equivalentTo"}
is_a: MONDO:0003608 {source="MONDO:Redundant", source="OMIM:616648"} ! optic atrophy
is_a: MONDO:0020250 {source="MONDO:Redundant", source="Orphanet:1215"} ! autosomal dominant optic atrophy
is_a: MONDO:0044970 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease
relationship: has_characteristic HP:0000006 {source="Orphanet:1215"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0014721
name: obsolete hereditary spherocytosis type 2
is_obsolete: true
replaced_by: MONDO:0000913

[Term]
id: MONDO:0014722
name: Roifman syndrome
subset: gard_rare {source="GARD:9163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:353298"}
subset: orphanet_rare {source="Orphanet:353298"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RFMN" EXACT ABBREVIATION [OMIM:616651]
synonym: "Roifman syndrome" EXACT [OMIM:616651]
synonym: "spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency" RELATED [GARD:0009163]
synonym: "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency" EXACT [OMIM:616651]
synonym: "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome" EXACT [Orphanet:353298]
xref: GARD:9163 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:353298/attributed", source="Orphanet:353298/ntbt", source="Orphanet:353298"}
xref: MEDGEN:375801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535866 {source="MONDO:equivalentTo"}
xref: OMIM:300258 {source="Orphanet:353298/nd", source="Orphanet:353298", source="MONDO:equivalentObsolete"}
xref: OMIM:616651 {source="Orphanet:353298", source="MONDO:equivalentTo", source="Orphanet:353298/e"}
xref: Orphanet:353298 {source="MONDO:equivalentTo"}
xref: UMLS:C1846059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375801"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0016761 {source="Orphanet:353298"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0100558 {source="https://clinicalgenome.org/affiliation/40065/"} ! RNU4ATAC spectrum disorder
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:353298", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34016 {source="MONDO:mim2gene_medgen"} ! RNU4ATAC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7497" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome" xsd:anyURI {source="GARD:0009163"}

[Term]
id: MONDO:0014723
name: PMP22-RAI1 contiguous gene duplication syndrome
subset: gard_rare {source="GARD:17859", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477817"}
subset: ordo_malformation_syndrome {source="Orphanet:477817"}
subset: orphanet_rare {source="Orphanet:477817"}
subset: rare
synonym: "17p11.2p12 microduplication syndrome" EXACT [Orphanet:477817]
synonym: "dup(17)(p11.2p12)" EXACT [Orphanet:477817]
synonym: "trisomy 17p11.2-p12" EXACT [Orphanet:477817]
synonym: "trisomy 17p11.2p12" EXACT [Orphanet:477817]
synonym: "YUAN-Harel-Lupski syndrome" RELATED [OMIM:616652]
synonym: "Yuan-Harel-Lupski syndrome" EXACT [OMIM:616652, Orphanet:477817]
synonym: "YUHAL" EXACT ABBREVIATION [OMIM:616652]
xref: GARD:17859 {source="MONDO:GARD"}
xref: MEDGEN:894862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616652 {source="MONDO:equivalentTo", source="Orphanet:477817"}
xref: Orphanet:477817 {source="MONDO:equivalentTo"}
xref: UMLS:C4225255 {source="MONDO:equivalentTo", source="MEDGEN:894862", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0016967 {source="Orphanet:477817"} ! partial duplication of the long arm of chromosome 17
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:477817", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014724
name: Joubert syndrome 24
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS24" EXACT ABBREVIATION [DOID:0110993, OMIM:616654]
synonym: "Joubert syndrome 24" EXACT [OMIM:616654]
synonym: "Joubert syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 24" EXACT [DOID:0110993, MONDORULE:2, OMIM:616654]
synonym: "TCTN2 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110993 {source="MONDO:equivalentTo"}
xref: GARD:16150 {source="MONDO:GARD"}
xref: MEDGEN:905319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616654 {source="MONDO:equivalentTo", source="DOID:0110993"}
xref: UMLS:C4084841 {source="MEDGEN:905319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DC-OMIM:616654", source="DOID:0110993", source="MONDO:Redundant", source="OMIM:616654"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25774 ! TCTN2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25774 {source="MONDO:mim2gene_medgen"} ! TCTN2

[Term]
id: MONDO:0014725
name: spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447997"}
subset: orphanet_rare {source="Orphanet:447997"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASCT1 deficiency" EXACT [Orphanet:447997]
synonym: "spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" EXACT [Orphanet:447997]
synonym: "spastic tetraplegia, thin corpus callosum, and progressive microcephaly" RELATED [OMIM:616657]
synonym: "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" EXACT CLINGEN_LABEL []
synonym: "SPATCCM" RELATED ABBREVIATION [OMIM:616657]
xref: DOID:0070537 {source="MONDO:equivalentTo"}
xref: GARD:13425 {source="MONDO:GARD"}
xref: ICD10CM:Q02 {source="Orphanet:447997/attributed", source="Orphanet:447997/ntbt", source="Orphanet:447997"}
xref: MEDGEN:900192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616657 {source="Orphanet:447997", source="MONDO:equivalentTo", source="Orphanet:447997/e"}
xref: Orphanet:447997 {source="MONDO:equivalentTo"}
xref: UMLS:C4225254 {source="MONDO:equivalentTo", source="MEDGEN:900192", source="MONDO:MEDGEN"}
is_a: MONDO:0018162 {source="Orphanet:447997"} ! neurometabolic disorder due to serine deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:447997", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10942 {source="MONDO:mim2gene_medgen"} ! SLC1A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014726
name: Charcot-Marie-Tooth disease axonal type 2X
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466775"}
subset: orphanet_rare {source="Orphanet:466775"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCMT2X" EXACT ABBREVIATION [Orphanet:466775]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X" EXACT [DOID:0110176]
synonym: "autosomal recessive Charcot Marie Tooth disease type 2X" RELATED [Orphanet:466775]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" EXACT [Orphanet:466775]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2X" RELATED [Orphanet:466775]
synonym: "Charcot-Marie-Tooth disease caused by mutation in SPG11" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X" RELATED [OMIM:616668]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2X" RELATED [OMIM:616668]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2x" EXACT [OMIM:616668]
synonym: "Charcot-Marie-Tooth neuropathy type 2X" EXACT [DOID:0110176]
synonym: "Charcot-Marie-Tooth neuropathy, type 2X" RELATED [OMIM:616668]
synonym: "CMT2X" EXACT ABBREVIATION [OMIM:616668, Orphanet:466775]
synonym: "SPG11 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110176 {source="MONDO:equivalentTo"}
xref: EFO:1001983 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17830 {source="MONDO:GARD"}
xref: MEDGEN:1800447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616668 {source="Orphanet:466775", source="MONDO:equivalentTo", source="DOID:0110176"}
xref: Orphanet:466775 {source="MONDO:equivalentTo", source="DOID:0110176"}
xref: UMLS:C5569024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800447"}
is_a: MONDO:0015626 {source="DOID:0110176/inferred", source="EFO:1001983/inferred", source="MONDO:Redundant", source="OMIM:616668", source="Orphanet:466775/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110176", source="EFO:1001983"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 ! SPG11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11226 {source="MONDO:mim2gene_medgen"} ! SPG11

[Term]
id: MONDO:0014727
name: immunodeficiency 45
synonym: "IMD45" EXACT ABBREVIATION [OMIM:616669]
synonym: "immunodeficiency 45" EXACT [OMIM:616669]
synonym: "immunodeficiency type 45" EXACT [MONDORULE:2, OMIM:616669]
xref: DOID:0111994 {source="MONDO:equivalentTo"}
xref: MEDGEN:901044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616669 {source="MONDO:equivalentTo"}
xref: UMLS:C4225252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901044"}
is_a: MONDO:0021094 {source="OMIMPS:300755"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5433 {source="MONDO:mim2gene_medgen"} ! IFNAR2

[Term]
id: MONDO:0014728
name: combined oxidative phosphorylation defect type 27
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17856", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477774"}
subset: orphanet_rare {source="Orphanet:477774"}
subset: rare
synonym: "CARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "combined oxidative phosphorylation deficiency 27" EXACT [OMIM:616672]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in CARS2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 27" EXACT [MONDORULE:2, OMIM:616672]
synonym: "COXPD27" EXACT ABBREVIATION [OMIM:616672, Orphanet:477774]
xref: DOID:0111489 {source="MONDO:equivalentTo"}
xref: GARD:17856 {source="MONDO:GARD"}
xref: MEDGEN:1799031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616672 {source="Orphanet:477774", source="MONDO:equivalentTo"}
xref: Orphanet:477774 {source="MONDO:equivalentTo"}
xref: UMLS:C5567608 {source="MEDGEN:1799031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:616672", source="MONDO:Redundant", source="OMIM:616672"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25695 ! CARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25695 {source="MONDO:mim2gene_medgen"} ! CARS2

[Term]
id: MONDO:0014729
name: hereditary spastic paraplegia 75
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:459056"}
subset: orphanet_rare {source="Orphanet:459056"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 75" EXACT [DOID:0110820]
synonym: "autosomal recessive spastic paraplegia type 75" EXACT [DOID:0110820]
synonym: "hereditary spastic paraplegia caused by mutation in MAG" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 75" EXACT [DOID:0110820, MONDORULE:2]
synonym: "MAG hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spastic paraplegia 75, autosomal recessive" EXACT [OMIM:616680]
synonym: "SPG75" EXACT ABBREVIATION [DOID:0110820, OMIM:616680, Orphanet:459056]
xref: DOID:0110820 {source="MONDO:equivalentTo"}
xref: GARD:17813 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="DOID:0110820", source="Orphanet:459056", source="Orphanet:459056/attributed", source="Orphanet:459056/ntbt"}
xref: MEDGEN:896387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616680 {source="DOID:0110820", source="Orphanet:459056/e", source="MONDO:equivalentTo", source="Orphanet:459056"}
xref: Orphanet:459056 {source="DOID:0110820", source="MONDO:equivalentTo"}
xref: UMLS:C4225250 {source="MEDGEN:896387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DOID:0110820", source="EFO:0009018/inferred", source="MONDO:Redundant", source="OMIM:616680", source="Orphanet:459056/inferred"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6783 ! MAG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6783 {source="MONDO:mim2gene_medgen"} ! MAG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014730
name: microcephaly 16, primary, autosomal recessive
subset: gard_rare {source="GARD:16151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH16" EXACT ABBREVIATION [OMIM:616681]
synonym: "microcephaly 16, primary, autosomal recessive" EXACT [OMIM:616681]
synonym: "microcephaly 16, primary, autosomal recessive; MCPH16" EXACT []
xref: DOID:0070289 {source="MONDO:equivalentTo"}
xref: GARD:16151 {source="MONDO:GARD"}
xref: MEDGEN:898705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616681 {source="MONDO:equivalentTo"}
xref: UMLS:C4225249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898705"}
is_a: MONDO:0016660 {source="DC-OMIM:616681", source="OMIM:616681"} ! autosomal recessive primary microcephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29101 {source="MONDO:mim2gene_medgen"} ! ANKLE2

[Term]
id: MONDO:0014731
name: seizures-scoliosis-macrocephaly syndrome
def: "Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects." [Orphanet:466926]
subset: gard_rare {source="GARD:17836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466926"}
subset: orphanet_rare {source="Orphanet:466926"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "seizures, scoliosis, and macrocephaly syndrome" EXACT [OMIM:616682]
synonym: "SSM syndrome" EXACT [Orphanet:466926]
synonym: "SSMS" EXACT ABBREVIATION [OMIM:616682]
xref: GARD:17836 {source="MONDO:GARD"}
xref: MEDGEN:909039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616682 {source="MONDO:equivalentTo", source="Orphanet:466926"}
xref: Orphanet:466926 {source="MONDO:equivalentTo"}
xref: UMLS:C4225248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909039"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:466926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3513 {source="MONDO:mim2gene_medgen"} ! EXT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014732
name: hypomyelinating leukodystrophy 12
def: "Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17837", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466934"}
subset: orphanet_rare {source="Orphanet:466934"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLD12" EXACT ABBREVIATION [DOID:0060796, OMIM:616683]
synonym: "hypomyelinating leukodystrophy type 12" EXACT [DOID:0060796, MONDORULE:2]
synonym: "leukodystrophy caused by mutation in VPS11" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 12" EXACT [OMIM:616683]
synonym: "leukodystrophy, hypomyelinating, type 12" EXACT [MONDORULE:2, OMIM:616683]
synonym: "VPS11 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "VPS11-related autosomal recessive hypomyelinating leukodystrophy" RELATED [Orphanet:466934]
synonym: "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy" EXACT [Orphanet:466934]
xref: DOID:0060796 {source="MONDO:equivalentTo"}
xref: GARD:17837 {source="MONDO:GARD"}
xref: MEDGEN:905068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616683 {source="DOID:0060796", source="MONDO:equivalentTo", source="Orphanet:466934"}
xref: Orphanet:466934 {source="MONDO:equivalentTo"}
xref: UMLS:C4225247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905068"}
is_a: MONDO:0019046 {source="DOID:0060796", source="DOID:0060796/inferred", source="MONDO:Redundant", source="OMIM:616683", source="Orphanet:466934"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14583 ! VPS11
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:466934", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14583 {source="MONDO:mim2gene_medgen"} ! VPS11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014733
name: Charcot-Marie-Tooth disease type 4K
def: "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)." [Orphanet:391351]
subset: gard_rare {source="GARD:17616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391351"}
subset: orphanet_rare {source="Orphanet:391351"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K" EXACT [DOID:0110187]
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K" EXACT [DOID:0110187]
synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease type 4K" EXACT [Orphanet:391351]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K" RELATED [OMIM:616684]
synonym: "Charcot-Marie-Tooth disease, type 4K" RELATED [OMIM:616684]
synonym: "Charcot-Marie-Tooth disease, type 4k" EXACT [OMIM:616684]
synonym: "Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K" RELATED [OMIM:616684]
synonym: "CMT4K" EXACT ABBREVIATION [DOID:0110187, OMIM:616684, Orphanet:391351]
synonym: "SURF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110187]
synonym: "SURF1-related CMT4" EXACT [DOID:0110187, Orphanet:391351]
synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT [DOID:0110187, Orphanet:391351]
xref: DOID:0110187 {source="MONDO:equivalentTo"}
xref: GARD:17616 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:391351", source="DOID:0110187", source="Orphanet:391351/attributed", source="Orphanet:391351/ntbt"}
xref: MEDGEN:895560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616684 {source="MONDO:equivalentTo", source="Orphanet:391351", source="DOID:0110187", source="Orphanet:391351/e"}
xref: Orphanet:391351 {source="MONDO:equivalentTo", source="DOID:0110187"}
xref: SCTID:765047006 {source="MONDO:equivalentTo"}
xref: UMLS:C4225246 {source="MEDGEN:895560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110187/inferred", source="MONDO:Redundant", source="OMIM:616684", source="Orphanet:391351/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0018995 {source="DOID:0110187", source="MONDO:Redundant", source="Orphanet:391351"} ! Charcot-Marie-Tooth disease type 4
intersection_of: MONDO:0018995 ! Charcot-Marie-Tooth disease type 4
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11474 ! SURF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11474 {source="MONDO:mim2gene_medgen"} ! SURF1

[Term]
id: MONDO:0014734
name: epilepsy, idiopathic generalized, susceptibility to, 14
subset: predisposition
synonym: "EIG14" EXACT ABBREVIATION [OMIM:616685]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 14" EXACT [OMIM:616685]
synonym: "epilepsy, idiopathic generalized, susceptibility to, 14; EIG14" EXACT []
synonym: "epilepsy, idiopathic generalized, susceptibility to, type 14" EXACT [MONDORULE:2, OMIM:616685]
synonym: "susceptibility to idiopathic generalised epilepsy 14" EXACT OMO:0003005 []
synonym: "susceptibility to idiopathic generalized epilepsy 14" EXACT [OMIM:616685]
xref: DOID:0111315 {source="MONDO:equivalentTo"}
xref: MEDGEN:903934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616685 {source="MONDO:equivalentTo"}
xref: UMLS:C4225245 {source="MEDGEN:903934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:600669"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13818 ! SLC12A5
intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic generalized
relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:616685", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13818 {source="MONDO:mim2gene_medgen"} ! SLC12A5
relationship: predisposes_towards MONDO:0005579 {source="OMIM:616685"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0014735
name: Charcot-Marie-Tooth disease type 2Y
def: "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435387"}
subset: orphanet_rare {source="Orphanet:435387"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" EXACT [DOID:0110168]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT [DOID:0110168]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Y" RELATED [Orphanet:435387]
synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in VCP" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y" RELATED [OMIM:616687]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Y" RELATED [OMIM:616687]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2y" EXACT [OMIM:616687]
synonym: "Charcot-Marie-Tooth disease, type 2Y" EXACT [OMIM:616687, OMIM:genemap2]
synonym: "Charcot-Marie-Tooth neuropathy type 2Y" EXACT [DOID:0110168]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Y" RELATED [OMIM:616687]
synonym: "CMT2 due to VCP mutation" EXACT [DOID:0110168, Orphanet:435387]
synonym: "CMT2Y" EXACT ABBREVIATION [DOID:0110168, OMIM:616687]
synonym: "VCP Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110168 {source="MONDO:equivalentTo"}
xref: GARD:17714 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:435387/attributed", source="Orphanet:435387/ntbt", source="DOID:0110168", source="Orphanet:435387"}
xref: MEDGEN:1800449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168974 {source="MONDO:equivalentTo"}
xref: OMIM:616687 {source="Orphanet:435387/e", source="MONDO:equivalentTo", source="DOID:0110168", source="Orphanet:435387"}
xref: Orphanet:435387 {source="MONDO:equivalentTo", source="DOID:0110168"}
xref: UMLS:C5569026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800449"}
is_a: MONDO:0015626 {source="DOID:0110168/inferred", source="MONDO:Redundant", source="OMIM:616687", source="Orphanet:435387/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110168", source="MONDO:Redundant", source="Orphanet:435387"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 ! VCP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 {source="MONDO:mim2gene_medgen"} ! VCP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014736
name: Charcot-Marie-Tooth disease axonal type 2Z
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466768"}
subset: orphanet_rare {source="Orphanet:466768"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z" EXACT [DOID:0110181]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation" EXACT [Orphanet:466768]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Z" RELATED [Orphanet:466768]
synonym: "Charcot-Marie-Tooth disease caused by mutation in MORC2" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" RELATED [OMIM:616688]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2Z" RELATED [OMIM:616688]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2z" EXACT [OMIM:616688]
synonym: "Charcot-Marie-Tooth neuropathy type 2Z" EXACT [DOID:0110181]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Z" RELATED [OMIM:616688]
synonym: "CMT2Z" EXACT ABBREVIATION [DOID:0110181, OMIM:616688, Orphanet:466768]
synonym: "MORC2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110181 {source="MONDO:equivalentTo"}
xref: GARD:17829 {source="MONDO:GARD"}
xref: MEDGEN:1800448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616688 {source="DOID:0110181", source="MONDO:equivalentTo", source="Orphanet:466768"}
xref: Orphanet:466768 {source="DOID:0110181", source="MONDO:equivalentTo"}
xref: UMLS:C5569025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800448"}
is_a: MONDO:0015626 {source="DOID:0110181/inferred", source="MONDO:Redundant", source="OMIM:616688", source="Orphanet:466768/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110181", source="Orphanet:466768"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23573 ! MORC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23573 {source="MONDO:mim2gene_medgen"} ! MORC2

[Term]
id: MONDO:0014737
name: dehydrated hereditary stomatocytosis 2
def: "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16152", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Dehydrated hereditary stomatocytosis 2" EXACT [OMIM:616689]
synonym: "dehydrated hereditary stomatocytosis 2; DHS2" EXACT []
synonym: "dehydrated hereditary stomatocytosis caused by mutation in KCNN4" EXACT [MONDO:design_pattern]
synonym: "Dehydrated hereditary stomatocytosis type 2" EXACT [MONDORULE:1, OMIM:616689]
synonym: "Desiccytosis Gardos" RELATED [OMIM:616689]
synonym: "DHS2" EXACT ABBREVIATION [OMIM:616689]
synonym: "KCNN4 dehydrated hereditary stomatocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "xerocytosis Gardos" RELATED [OMIM:616689]
xref: DOID:0111577 {source="MONDO:equivalentTo"}
xref: GARD:16152 {source="MONDO:GARD"}
xref: MEDGEN:908701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616689 {source="MONDO:equivalentTo"}
xref: UMLS:C4225242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908701"}
is_a: MONDO:0017910 {source="DC-OMIM:616689", source="MONDO:Redundant"} ! dehydrated hereditary stomatocytosis
intersection_of: MONDO:0017910 ! dehydrated hereditary stomatocytosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6293 ! KCNN4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6293 {source="MONDO:mim2gene_medgen"} ! KCNN4

[Term]
id: MONDO:0014738
name: autosomal dominant nonsyndromic hearing loss 69
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 69" NARROW [DOID:0110590]
synonym: "autosomal dominant nonsyndromic deafness 69" NARROW [OMIM:616697]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KITLG" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 69" NARROW [DOID:0110590, MONDORULE:2]
synonym: "DCUA" NARROW ABBREVIATION [DOID:0110590, OMIM:616697]
synonym: "deafness, autosomal dominant 69" NARROW [OMIM:616697]
synonym: "deafness, autosomal dominant 69, unilateral or asymmetric" NARROW [OMIM:616697, OMIM:genemap2]
synonym: "deafness, congenital, unilateral or asymmetric" NARROW [OMIM:616697]
synonym: "DFNA69" NARROW ABBREVIATION [DOID:0110590]
synonym: "KITLG autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "unilateral or asymmetric congenital deafness" NARROW [DOID:0110590]
xref: DOID:0110590 {source="MONDO:equivalentTo"}
xref: GARD:18143 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110590"}
xref: MEDGEN:905882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616697 {source="DOID:0110590", source="MONDO:equivalentTo"}
xref: UMLS:C4225241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905882"}
is_a: MONDO:0019587 {source="DOID:0110590", source="MONDO:Redundant", source="OMIM:616697"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6343 ! KITLG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6343 {source="MONDO:mim2gene_medgen"} ! KITLG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014739
name: autosomal recessive nonsyndromic hearing loss 97
def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive deafness 97" NARROW [DOID:0110539]
synonym: "autosomal recessive nonsyndromic deafness 97" NARROW [OMIM:616705]
synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MET" NARROW [MONDO:design_pattern]
synonym: "autosomal recessive nonsyndromic deafness type 97" NARROW [DOID:0110539, MONDORULE:2]
synonym: "deafness, autosomal recessive 97" NARROW [OMIM:616705, OMIM:genemap2]
synonym: "deafness, autosomal recessive type 97" NARROW [MONDORULE:2, OMIM:616705]
synonym: "DFNB97" NARROW ABBREVIATION [DOID:0110539, OMIM:616705]
synonym: "MET autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110539 {source="MONDO:equivalentTo"}
xref: GARD:22655 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110539"}
xref: MEDGEN:899875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616705 {source="MONDO:equivalentTo", source="DOID:0110539"}
xref: UMLS:C4084709 {source="MEDGEN:899875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DC-OMIM:616705", source="DOID:0110539", source="MONDO:Redundant", source="OMIM:616705"} ! hearing loss, autosomal recessive
intersection_of: MONDO:0019588 ! hearing loss, autosomal recessive
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7029 ! MET
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7029 {source="MONDO:mim2gene_medgen"} ! MET
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014740
name: autosomal dominant nonsyndromic hearing loss 68
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 68" NARROW [DOID:0110589]
synonym: "autosomal dominant nonsyndromic deafness 68" NARROW [OMIM:616707]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in HOMER2" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 68" NARROW [DOID:0110589, MONDORULE:2]
synonym: "deafness, autosomal dominant 68" NARROW [OMIM:616707, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 68" NARROW [MONDORULE:2, OMIM:616707]
synonym: "DFNA68" NARROW ABBREVIATION [DOID:0110589, OMIM:616707]
synonym: "HOMER2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110589 {source="MONDO:equivalentTo"}
xref: GARD:18144 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110589"}
xref: MEDGEN:898808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616707 {source="DOID:0110589", source="MONDO:equivalentTo"}
xref: UMLS:C4225240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898808"}
is_a: MONDO:0019587 {source="DC-OMIM:616707", source="DOID:0110589", source="MONDO:Redundant", source="OMIM:616707"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17513 ! HOMER2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17513 {source="MONDO:mim2gene_medgen"} ! HOMER2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014741
name: DeSanto-Shinawi syndrome due to WAC point mutation
subset: gard_rare {source="GARD:17839", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:466950"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 10P12-p11 deletion syndrome" RELATED [OMIM:616708]
synonym: "DESANTO-SHINAWI syndrome" BROAD [OMIM:616708]
synonym: "Desanto-Shinawi syndrome" BROAD [OMIM:616708]
synonym: "DESSH" BROAD ABBREVIATION [OMIM:616708]
synonym: "developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities" RELATED [OMIM:616708]
synonym: "developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities" RELATED OMO:0003005 []
synonym: "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" EXACT [Orphanet:466950]
xref: GARD:17839 {source="MONDO:GARD"}
xref: MEDGEN:1841517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616708 {source="Orphanet:466950", source="MONDO:equivalentTo"}
xref: Orphanet:466950 {source="MONDO:equivalentTo"}
xref: UMLS:C5681129 {source="MEDGEN:1841517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018760 {source="Orphanet:466950"} ! DeSanto-Shinawi syndrome
relationship: has_characteristic SO:1000008 ! point_mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17327 {source="MONDO:mim2gene_medgen"} ! WAC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5424" xsd:anyURI

[Term]
id: MONDO:0014742
name: Parkinson disease 22, autosomal dominant
def: "Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHCHD2 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PARK22" EXACT ABBREVIATION [OMIM:616710]
synonym: "Parkinson disease 22, autosomal dominant" EXACT [OMIM:616710]
synonym: "Parkinson disease 22, autosomal dominant; PARK22" EXACT []
synonym: "Parkinson disease caused by mutation in CHCHD2" EXACT [MONDO:design_pattern]
xref: DOID:0080504 {source="MONDO:equivalentTo"}
xref: MEDGEN:907886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616710 {source="MONDO:equivalentTo"}
xref: UMLS:C4225238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907886"}
is_a: MONDO:0005180 {source="DC-OMIM:616710", source="MONDO:Redundant", source="OMIM:616710"} ! Parkinson disease
is_a: MONDO:0008199 {source="PMID:27270108"} ! late-onset Parkinson disease
intersection_of: MONDO:0005180 ! Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21645 ! CHCHD2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21645 {source="MONDO:mim2gene_medgen"} ! CHCHD2

[Term]
id: MONDO:0014743
name: rhizomelic chondrodysplasia punctata type 5
def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:468717"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:468717"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PEX5 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCDP5" EXACT ABBREVIATION [OMIM:616716]
synonym: "Rcdp5" EXACT [DOID:0110854]
synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX5" EXACT [MONDO:design_pattern]
synonym: "rhizomelic chondrodysplasia punctata type 5" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "rhizomelic chondrodysplasia punctata, type 5" EXACT [OMIM:616716]
xref: DOID:0110854 {source="MONDO:equivalentTo"}
xref: GARD:13320 {source="MONDO:GARD"}
xref: MEDGEN:900333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616716 {source="DOID:0110854", source="MONDO:equivalentTo", source="Orphanet:468717"}
xref: Orphanet:468717 {source="DOID:0110854", source="MONDO:equivalentTo"}
xref: UMLS:C4225237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900333"}
is_a: MONDO:0015776 {source="DC-OMIM:616716", source="DOID:0110854", source="MONDO:Redundant", source="OMIM:616716", source="Orphanet:468717"} ! rhizomelic chondrodysplasia punctata
is_a: MONDO:0019701 {source="PMID:31633310"} ! chondrodysplasia punctata
is_a: MONDO:0100265 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
intersection_of: MONDO:0100265 ! peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 ! PEX5
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 {source="MONDO:mim2gene_medgen"} ! PEX5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014744
name: acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
def: "An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13." [DOID:0111155]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:17833", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466794"}
subset: orphanet_rare {source="Orphanet:466794"}
subset: rare
synonym: "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT [DOID:0111155]
synonym: "autosomal recessive spinocerebellar ataxia 21" RELATED [DOID:0111155]
synonym: "autosomal recessive spinocerebellar ataxia 21 with hepatopathy" EXACT [DOID:0111155]
synonym: "autosomal recessive spinocerebellar ataxia type 21" EXACT [Orphanet:466794]
synonym: "SCAR21" EXACT ABBREVIATION [DOID:0111155, OMIM:616719, Orphanet:466794]
synonym: "spinocerebellar ataxia, autosomal recessive 21" EXACT [OMIM:616719]
synonym: "spinocerebellar ataxia, autosomal recessive 21, with hepatopathy" RELATED [OMIM:616719]
synonym: "spinocerebellar ataxia, autosomal recessive type 21" EXACT [MONDORULE:2, OMIM:616719]
xref: DOID:0111155 {source="MONDO:equivalentTo"}
xref: GARD:17833 {source="MONDO:GARD"}
xref: MEDGEN:1800507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616719 {source="Orphanet:466794", source="MONDO:equivalentTo", source="DOID:0111155"}
xref: Orphanet:466794 {source="MONDO:equivalentTo", source="DOID:0111155"}
xref: UMLS:C5569084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800507"}
is_a: MONDO:0002254 {source="PMID:29419818", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015244 {source="DOID:0111155", source="Orphanet:466794/inferred"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0020047 {source="Orphanet:466794"} ! autosomal recessive syndromic cerebellar ataxia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14372 {source="MONDO:mim2gene_medgen"} ! SCYL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0014745
name: congenital myasthenic syndrome 19
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS19" EXACT ABBREVIATION [DOID:0110673, OMIM:616720]
synonym: "COL13A1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital myasthenic syndrome caused by mutation in COL13A1" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 19" EXACT [DOID:0110673, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 19" EXACT [OMIM:616720]
synonym: "myasthenic syndrome, congenital, type 19" EXACT [MONDORULE:2, OMIM:616720]
xref: DOID:0110673 {source="MONDO:equivalentTo"}
xref: GARD:16153 {source="MONDO:GARD"}
xref: MEDGEN:897962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616720 {source="MONDO:equivalentTo", source="DOID:0110673"}
xref: UMLS:C4225235 {source="MEDGEN:897962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110673", source="MONDO:Redundant", source="OMIM:616720"} ! congenital myasthenic syndrome
is_a: MONDO:0020344 {source="Orphanet:98913/btnt"} ! postsynaptic congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2190 ! COL13A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2190 {source="MONDO:mim2gene_medgen"} ! COL13A1

[Term]
id: MONDO:0014746
name: SLC39A8-CDG
subset: gard_rare {source="GARD:17846", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468699"}
subset: orphanet_rare {source="Orphanet:468699"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIn" EXACT [Orphanet:468699]
synonym: "CDG IIn" RELATED [OMIM:616721]
synonym: "CDG syndrome type IIn" EXACT [Orphanet:468699]
synonym: "CDG-IIn" EXACT [Orphanet:468699]
synonym: "CDG2N" EXACT ABBREVIATION [OMIM:616721, Orphanet:468699]
synonym: "congenital disorder of glycosylation type 2n" EXACT [Orphanet:468699]
synonym: "congenital disorder of glycosylation type IIn" EXACT [Orphanet:468699]
synonym: "congenital disorder of glycosylation, type IIn" EXACT [OMIM:616721]
synonym: "SLC39A8 deficiency" EXACT [Orphanet:468699]
xref: DOID:0070266 {source="MONDO:equivalentTo"}
xref: GARD:17846 {source="MONDO:GARD"}
xref: MEDGEN:899837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616721 {source="Orphanet:468699", source="MONDO:equivalentTo"}
xref: Orphanet:468699 {source="MONDO:equivalentTo"}
xref: UMLS:C4225234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899837"}
is_a: MONDO:0005501 {source="DC-OMIM:616721", source="OMIM:616721"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015159 {source="Orphanet:468699"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017740 {source="Orphanet:468699"} ! disorder of protein N-glycosylation
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:468699", source="Orphanet:468699/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20862 {source="MONDO:mim2gene_medgen"} ! SLC39A8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014747
name: familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
subset: gard_rare {source="GARD:17888", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488197"}
subset: orphanet_rare {source="Orphanet:488197"}
subset: rare
synonym: "RDICC" RELATED ABBREVIATION [OMIM:616722]
synonym: "retinal dystrophy and iris coloboma with or without cataract" EXACT [OMIM:616722, OMIM:genemap2]
synonym: "retinal dystrophy and iris coloboma with or without congenital cataract" RELATED [OMIM:616722]
xref: GARD:17888 {source="MONDO:GARD"}
xref: MEDGEN:904740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616722 {source="MONDO:equivalentTo", source="Orphanet:488197"}
xref: Orphanet:488197 {source="MONDO:equivalentTo"}
xref: UMLS:C4225233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904740"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31582 {source="MONDO:mim2gene_medgen"} ! MIR204
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014748
name: progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
subset: gard_rare {source="GARD:17808", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457395"}
subset: ordo_malformation_syndrome {source="Orphanet:457395"}
subset: orphanet_rare {source="Orphanet:457395"}
subset: rare
synonym: "SEMDFA" EXACT ABBREVIATION [OMIM:616723]
synonym: "spondyloepimetaphyseal dysplasia, faden-ALKURAYA type" RELATED [OMIM:616723]
synonym: "spondyloepimetaphyseal dysplasia, faden-Alkuraya type" EXACT [OMIM:616723]
synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis" RELATED [OMIM:616723]
synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" RELATED DEPRECATED [OMIM:616723]
xref: GARD:17808 {source="MONDO:GARD"}
xref: MEDGEN:1800305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616723 {source="Orphanet:457395/e", source="MONDO:equivalentTo", source="Orphanet:457395"}
xref: Orphanet:457395 {source="MONDO:equivalentTo"}
xref: UMLS:C5568882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800305"}
is_a: MONDO:0015159 {source="Orphanet:457395"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016761 {source="Orphanet:457395", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457395", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29420 {source="MONDO:mim2gene_medgen"} ! RSPRY1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014749
name: tooth agenesis, selective, 7
def: "Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18249", source="MONDO:GARD"}
subset: rare
synonym: "LRP6 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STHAG7" EXACT ABBREVIATION [OMIM:616724]
synonym: "tooth agenesis caused by mutation in LRP6" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 7" EXACT [OMIM:616724]
synonym: "tooth agenesis, selective, 7; STHAG7" EXACT []
synonym: "tooth agenesis, selective, type 7" EXACT [MONDORULE:1, OMIM:616724]
xref: GARD:18249 {source="MONDO:GARD"}
xref: MEDGEN:899184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616724 {source="MONDO:equivalentTo"}
xref: UMLS:C4225231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899184"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:616724", source="MONDO:Redundant", source="OMIM:616724"} ! tooth agenesis
intersection_of: MONDO:0005486 ! tooth agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 ! LRP6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 {source="MONDO:mim2gene_medgen"} ! LRP6

[Term]
id: MONDO:0014750
name: primary ciliary dyskinesia 33
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16154", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD33" EXACT ABBREVIATION [DOID:0110619, OMIM:616726]
synonym: "ciliary dyskinesia, primary, 33" EXACT [OMIM:616726]
synonym: "ciliary dyskinesia, primary, 33, without situs inversus" RELATED [OMIM:616726]
synonym: "ciliary dyskinesia, primary, type 33" EXACT [MONDORULE:2, OMIM:616726]
synonym: "GAS8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 33 without situs inversus" EXACT [DOID:0110619]
synonym: "primary ciliary dyskinesia caused by mutation in GAS8" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 33" EXACT [DOID:0110619, MONDORULE:2]
xref: DOID:0110619 {source="MONDO:equivalentTo"}
xref: GARD:16154 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="DOID:0110619"}
xref: MEDGEN:898734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616726 {source="MONDO:equivalentTo", source="DOID:0110619"}
xref: UMLS:C4225230 {source="MONDO:equivalentTo", source="MEDGEN:898734", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:616726", source="DOID:0110619", source="MONDO:Redundant", source="OMIM:616726"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4166 ! GAS8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4166 {source="MONDO:mim2gene_medgen"} ! GAS8

[Term]
id: MONDO:0014751
name: palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
def: "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies." [Orphanet:477993]
subset: gard_rare {source="GARD:17862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477993"}
subset: ordo_malformation_syndrome {source="Orphanet:477993"}
subset: orphanet_rare {source="Orphanet:477993"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate, psychomotor retardation, and distinctive FACIAL features" RELATED [OMIM:616728]
synonym: "cleft palate, psychomotor retardation, and distinctive Facial features" RELATED [OMIM:616728]
synonym: "CPRF" RELATED ABBREVIATION [OMIM:616728]
synonym: "palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:477993]
xref: GARD:17862 {source="MONDO:GARD"}
xref: MEDGEN:895943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616728 {source="Orphanet:477993", source="MONDO:equivalentTo"}
xref: Orphanet:477993 {source="MONDO:equivalentTo"}
xref: UMLS:C4225229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895943"}
is_a: MONDO:0015159 {source="Orphanet:477993"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:477993", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29079 {source="MONDO:mim2gene_medgen"} ! KDM1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014752
name: nephrotic syndrome, type 11
def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16155", source="MONDO:GARD"}
subset: rare
synonym: "familial nephrotic syndrome caused by mutation in NUP107" EXACT []
synonym: "familial nephrotic syndrome caused by mutation in Nup107" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 11" EXACT [OMIM:616730]
synonym: "nephrotic syndrome, type 11; NPHS11" EXACT []
synonym: "NPHS11" EXACT ABBREVIATION [OMIM:616730]
synonym: "NUP107 familial nephrotic syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Nup107 familial nephrotic syndrome" EXACT [MONDO:design_pattern]
xref: DOID:0080385 {source="MONDO:equivalentTo"}
xref: GARD:16155 {source="MONDO:GARD"}
xref: MEDGEN:898622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616730 {source="MONDO:equivalentTo"}
xref: UMLS:C4225228 {source="MEDGEN:898622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:616730"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:616730"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29914 ! NUP107
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29914 {source="MONDO:mim2gene_medgen"} ! NUP107

[Term]
id: MONDO:0014753
name: obsolete autosomal recessive optic atrophy
subset: ordo_disorder {source="Orphanet:98676"}
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal recessive isolated optic atrophy" NARROW [Orphanet:98676]
synonym: "autosomal recessive nonsyndromic optic atrophy" NARROW [Orphanet:98676]
xref: GARD:16860 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H47.2 {source="Orphanet:98676/attributed", source="Orphanet:98676/ntbt", source="Orphanet:98676"}
xref: Orphanet:98676 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0014754
name: primary coenzyme Q10 deficiency 8
def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "coenzyme Q10 deficiency caused by mutation in COQ7" EXACT [MONDO:design_pattern]
synonym: "coenzyme Q10 deficiency, primary, 8" EXACT [OMIM:616733]
synonym: "coenzyme Q10 deficiency, primary, type 8" EXACT [MONDORULE:1, OMIM:616733]
synonym: "COQ10D8" EXACT ABBREVIATION [OMIM:616733]
synonym: "COQ7 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary coenzyme Q10 deficiency 8" EXACT [DOID:0070245]
xref: DOID:0070245 {source="MONDO:equivalentTo"}
xref: MEDGEN:908648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616733 {source="MONDO:equivalentTo"}
xref: UMLS:C4225226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908648"}
is_a: MONDO:0018151 {source="DC-OMIM:616733", source="MONDO:Redundant", source="OMIM:616733"} ! coenzyme Q10 deficiency
intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2244 ! COQ7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2244 {source="MONDO:mim2gene_medgen"} ! COQ7

[Term]
id: MONDO:0014755
name: skin creases, congenital symmetric circumferential, 2
subset: gard_rare {source="GARD:16156", source="MONDO:GARD"}
subset: rare
synonym: "CSCSC2" EXACT ABBREVIATION [OMIM:616734]
synonym: "MAPRE2 multiple benign circumferential skin creases on limbs" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2" EXACT [MONDO:design_pattern]
synonym: "skin creases, congenital symmetric circumferential, 2" EXACT [OMIM:616734]
synonym: "skin creases, congenital symmetric circumferential, 2; CSCSC2" EXACT []
synonym: "skin creases, congenital symmetric circumferential, type 2" EXACT [MONDORULE:1, OMIM:616734]
synonym: "symmetric circumferential skin creases, congenital, 2" EXACT [OMIM:616734, OMIM:genemap2]
xref: DOID:0112243 {source="MONDO:equivalentTo"}
xref: GARD:16156 {source="MONDO:GARD"}
xref: MEDGEN:902880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616734 {source="MONDO:equivalentTo"}
xref: UMLS:C4225225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902880"}
is_a: MONDO:0007990 {source="MONDO:Redundant", source="Orphanet:2505/btnt"} ! multiple benign circumferential skin creases on limbs
intersection_of: MONDO:0007990 ! multiple benign circumferential skin creases on limbs
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6891 ! MAPRE2
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6891 {source="MONDO:mim2gene_medgen"} ! MAPRE2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014756
name: tremor, hereditary essential, 5
def: "Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "essential tremor caused by mutation in TENM4" EXACT [MONDO:design_pattern]
synonym: "essential tremor, hereditary, 5" EXACT [OMIM:616736, OMIM:genemap2]
synonym: "ETM5" EXACT ABBREVIATION [OMIM:616736]
synonym: "TENM4 essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "tremor, hereditary essential, 5" EXACT [OMIM:616736]
synonym: "tremor, hereditary essential, 5; ETM5" EXACT []
synonym: "tremor, hereditary essential, type 5" EXACT [MONDORULE:1, OMIM:616736]
xref: DOID:0111432 {source="MONDO:equivalentTo"}
xref: MEDGEN:897748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616736 {source="MONDO:equivalentTo"}
xref: UMLS:C4225223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897748"}
is_a: MONDO:0003233 {source="DC-OMIM:616736", source="MONDO:Redundant", source="OMIM:616736"} ! essential tremor
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0003233 ! essential tremor
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29945 ! TENM4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29945 {source="MONDO:mim2gene_medgen"} ! TENM4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014757
name: macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17884", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:487796"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:487796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrothrombocytopenia and intellectual disability syndrome" RELATED [OMIM:616737]
synonym: "macrothrombocytopenia and mental retardation syndrome" RELATED DEPRECATED [OMIM:616737]
synonym: "TAKENOUCHI-Kosaki syndrome" RELATED [OMIM:616737]
synonym: "Takenouchi-Kosaki syndrome" EXACT [OMIM:616737, Orphanet:487796]
synonym: "TKS" RELATED ABBREVIATION [OMIM:616737]
xref: GARD:17884 {source="MONDO:GARD"}
xref: MEDGEN:906646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200985 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:616737 {source="Orphanet:487796", source="MONDO:equivalentTo"}
xref: Orphanet:487796 {source="MONDO:equivalentTo"}
xref: UMLS:C4225222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906646"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:487796"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018795 {source="Orphanet:487796"} ! syndromic constitutional thrombocytopenia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:487796", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1736 {source="MONDO:mim2gene_medgen"} ! CDC42
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014758
name: radioulnar synostosis with amegakaryocytic thrombocytopenia 2
def: "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM" EXACT [MONDO:design_pattern]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" EXACT [OMIM:616738]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2" EXACT []
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2" EXACT [MONDORULE:1, OMIM:616738]
synonym: "RUSAT2" EXACT ABBREVIATION [OMIM:616738]
xref: GARD:18069 {source="MONDO:GARD"}
xref: MEDGEN:901732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616738 {source="MONDO:equivalentTo"}
xref: UMLS:C4225221 {source="MEDGEN:901732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011555 {source="MONDO:Redundant", source="OMIM:616738", source="Orphanet:71289/btnt"} ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
is_a: MONDO:0100458 {source="https://orcid.org/0000-0002-7437-8060"} ! MECOM-associated syndrome
intersection_of: MONDO:0011555 ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3498 ! MECOM
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3498 {source="MONDO:mim2gene_medgen"} ! MECOM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3952" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014759
name: intellectual disability, autosomal recessive 51
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT" EXACT [MONDO:design_pattern]
synonym: "HNMT autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal recessive 51" EXACT [OMIM:616739, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 51" EXACT [OMIM:616739]
synonym: "intellectual disability, autosomal recessive type 51" EXACT [MONDORULE:2, OMIM:616739]
synonym: "mental retardation, autosomal recessive 51" EXACT DEPRECATED [OMIM:616739]
synonym: "mental retardation, autosomal recessive type 51" EXACT DEPRECATED [MONDORULE:2, OMIM:616739]
synonym: "MRT51" EXACT ABBREVIATION [OMIM:616739]
xref: DOID:0081214 {source="MONDO:equivalentTo"}
xref: GARD:22571 {source="MONDO:GARD"}
xref: MEDGEN:903243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616739 {source="MONDO:equivalentTo"}
xref: UMLS:C4225220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903243"}
is_a: MONDO:0019502 {source="DC-OMIM:616739", source="MONDO:Redundant", source="OMIM:616739"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5028 ! HNMT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5028 {source="MONDO:mim2gene_medgen"} ! HNMT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014760
name: TFRC-related combined immunodeficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17849", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:476113"}
subset: orphanet_rare {source="Orphanet:476113"}
subset: rare
synonym: "CID due to TFRC deficiency" EXACT [Orphanet:476113]
synonym: "combined immunodeficiency due to TFRC deficiency" RELATED [Orphanet:476113]
synonym: "IMD46" EXACT ABBREVIATION [OMIM:616740]
synonym: "immunodeficiency 46" EXACT [OMIM:616740]
synonym: "immunodeficiency type 46" EXACT [MONDORULE:2, OMIM:616740]
xref: DOID:0111948 {source="MONDO:equivalentTo"}
xref: GARD:17849 {source="MONDO:GARD"}
xref: MEDGEN:1799556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616740 {source="Orphanet:476113", source="MONDO:equivalentTo"}
xref: Orphanet:476113 {source="MONDO:equivalentTo"}
xref: UMLS:C5568133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799556"}
is_a: MONDO:0021094 {source="OMIM:616740"} ! immunodeficiency disease
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:476113", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11763 {source="MONDO:mim2gene_medgen"} ! TFRC

[Term]
id: MONDO:0014761
name: obsolete hereditary pediatric Behçet-like disease
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800045

[Term]
id: MONDO:0014762
name: heterotaxy, visceral, 7, autosomal
def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "heterotaxy, visceral, 7, autosomal" EXACT [OMIM:616749]
synonym: "heterotaxy, visceral, 7, autosomal; HTX7" EXACT []
synonym: "HTX7" EXACT ABBREVIATION [OMIM:616749]
synonym: "MMP21 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "visceral heterotaxy caused by mutation in MMP21" EXACT [MONDO:design_pattern]
xref: MEDGEN:902629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616749 {source="MONDO:equivalentTo"}
xref: UMLS:C4225217 {source="MEDGEN:902629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018677 {source="DC-OMIM:616749", source="MONDO:Redundant", source="OMIM:616749"} ! visceral heterotaxy
intersection_of: MONDO:0018677 ! visceral heterotaxy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14357 ! MMP21
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14357 {source="MONDO:mim2gene_medgen"} ! MMP21

[Term]
id: MONDO:0014763
name: obsolete Bombay phenotype
synonym: "Bombay phenotype" EXACT [OMIM:616754, OMIM:genemap2]
synonym: "Bombay phenotype, digenic" EXACT [OMIM:616754, OMIM:genemap2]
synonym: "para-Bombay phenotype" RELATED [OMIM:616754]
synonym: "Reunion variant" RELATED [OMIM:616754]
xref: OMIM:616754 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2942" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0014764
name: spastic paraplegia-severe developmental delay-epilepsy syndrome
def: "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement." [Orphanet:464282]
subset: gard_rare {source="GARD:17816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464282"}
subset: orphanet_rare {source="Orphanet:464282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spastic paraplegia and psychomotor retardation with or without seizures" RELATED [OMIM:616756]
synonym: "spastic paraplegia-psychomotor retardation-seizures syndrome" EXACT [Orphanet:464282]
synonym: "SPPRS" RELATED ABBREVIATION [OMIM:616756]
synonym: "SPPRS syndrome" EXACT [Orphanet:464282]
xref: GARD:17816 {source="MONDO:GARD"}
xref: MEDGEN:897828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616756 {source="Orphanet:464282/e", source="MONDO:equivalentTo", source="Orphanet:464282"}
xref: Orphanet:464282 {source="MONDO:equivalentTo"}
xref: UMLS:C4225215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897828"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0015159 {source="Orphanet:464282"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:464282"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464282", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21033 {source="MONDO:mim2gene_medgen"} ! HACE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014765
name: wooly hair, autosomal recessive 3
def: "Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARWH3" EXACT ABBREVIATION [OMIM:616760]
synonym: "KRT25 woolly hair (disease)" EXACT OMO:0003005 []
synonym: "KRT25 wooly hair (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "woolly hair (disease) caused by mutation in KRT25" EXACT OMO:0003005 []
synonym: "woolly hair, autosomal recessive 3, with hypotrichosis" RELATED OMO:0003005 []
synonym: "woolly hair, autosomal recessive type 3" EXACT OMO:0003005 []
synonym: "wooly hair (disease) caused by mutation in KRT25" EXACT []
synonym: "wooly hair, autosomal recessive 3" EXACT [OMIM:616760]
synonym: "wooly hair, autosomal recessive 3, with hypotrichosis" RELATED [OMIM:616760]
synonym: "wooly hair, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:616760]
xref: DOID:0111574 {source="MONDO:equivalentTo"}
xref: GARD:16157 {source="MONDO:GARD"}
xref: MEDGEN:902275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616760 {source="MONDO:equivalentTo"}
xref: UMLS:C4225214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902275"}
is_a: MONDO:0008686 {source="MONDO:Redundant", source="Orphanet:170/btnt"} ! isolated familial wooly hair disorder
intersection_of: MONDO:0008686 ! isolated familial wooly hair disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30839 ! KRT25
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30839 {source="MONDO:mim2gene_medgen"} ! KRT25

[Term]
id: MONDO:0014766
name: leukodystrophy and acquired microcephaly with or without dystonia;
subset: otar {source="MONDO:OTAR"}
synonym: "LDAMD" RELATED ABBREVIATION [OMIM:616763]
synonym: "leukodystrophy and acquired microcephaly with or without dystonia" RELATED [OMIM:616763]
xref: MEDGEN:908888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616763 {source="MONDO:equivalentTo"}
xref: UMLS:C4225213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908888"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29515 {source="MONDO:mim2gene_medgen"} ! PLEKHG2

[Term]
id: MONDO:0014767
name: Seckel syndrome 9
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCKL9" EXACT ABBREVIATION [DOID:0070005, OMIM:616777]
synonym: "Seckel syndrome 9" EXACT [OMIM:616777]
synonym: "Seckel syndrome caused by mutation in TRAIP" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 9" EXACT [MONDORULE:1, OMIM:616777]
synonym: "TRAIP Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070005 {source="MONDO:equivalentTo"}
xref: GARD:16158 {source="MONDO:GARD"}
xref: MEDGEN:907155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616777 {source="DOID:0070005", source="MONDO:equivalentTo"}
xref: UMLS:C4225212 {source="MONDO:equivalentTo", source="MEDGEN:907155", source="MONDO:MEDGEN"}
is_a: MONDO:0019342 {source="DC-OMIM:616777", source="DOID:0070005", source="MONDO:Redundant", source="OMIM:616777"} ! Seckel syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30764 ! TRAIP
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616777"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30764 {source="MONDO:mim2gene_medgen"} ! TRAIP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014768
name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
def: "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT [DOID:0111036]
synonym: "CADASIL 2" EXACT [OMIM:616779]
synonym: "CADASIL caused by mutation in HTRA1" EXACT [MONDO:design_pattern]
synonym: "CADASIL type 2" EXACT [DOID:0111036, MONDORULE:1]
synonym: "CADASIL2" EXACT ABBREVIATION [OMIM:616779]
synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" EXACT [OMIM:616779]
synonym: "HTRA1 CADASIL" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111036 {source="MONDO:equivalentTo"}
xref: ICD10CM:F01.1 {source="DOID:0111036"}
xref: MEDGEN:895965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616779 {source="MONDO:equivalentTo", source="DOID:0111036"}
xref: UMLS:C4225211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895965"}
is_a: MONDO:0007432 {source="DOID:0111036", source="MONDO:Redundant", source="OMIM:616779"} ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
intersection_of: MONDO:0007432 ! cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 ! HTRA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 {source="MONDO:mim2gene_medgen"} ! HTRA1

[Term]
id: MONDO:0014769
name: inherited oocyte maturation defect
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
synonym: "oocyte maturation defect" EXACT [OMIM:616780]
synonym: "OOMD" RELATED ABBREVIATION [OMIM:616780]
xref: OMIMPS:615774 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0005047 {source="https://orcid.org/0000-0001-5208-3432"} ! infertility disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:615774"} ! inherited

[Term]
id: MONDO:0014770
name: Joubert syndrome 25
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEP104 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS25" EXACT ABBREVIATION [DOID:0110994, OMIM:616781]
synonym: "Joubert syndrome 25" EXACT [OMIM:616781]
synonym: "Joubert syndrome caused by mutation in CEP104" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 25" EXACT [DOID:0110994, MONDORULE:2, OMIM:616781]
xref: DOID:0110994 {source="MONDO:equivalentTo"}
xref: GARD:16159 {source="MONDO:GARD"}
xref: MEDGEN:895764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616781 {source="MONDO:equivalentTo", source="DOID:0110994"}
xref: UMLS:C4084842 {source="MONDO:equivalentTo", source="MEDGEN:895764", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DC-OMIM:616781", source="DOID:0110994", source="MONDO:Redundant", source="OMIM:616781"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24866 ! CEP104
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24866 {source="MONDO:mim2gene_medgen"} ! CEP104

[Term]
id: MONDO:0014771
name: Joubert syndrome 26
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS26" EXACT ABBREVIATION [DOID:0110995, OMIM:616784]
synonym: "Joubert syndrome 26" EXACT [OMIM:616784]
synonym: "Joubert syndrome caused by mutation in KIAA0556" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 26" EXACT [DOID:0110995, MONDORULE:2, OMIM:616784]
synonym: "KIAA0556 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110995 {source="MONDO:equivalentTo"}
xref: GARD:16160 {source="MONDO:GARD"}
xref: MEDGEN:900415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616784 {source="DOID:0110995", source="MONDO:equivalentTo"}
xref: UMLS:C4084843 {source="MEDGEN:900415", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DC-OMIM:616784", source="DOID:0110995", source="MONDO:Redundant", source="OMIM:616784"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29068 ! KATNIP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29068 {source="MONDO:mim2gene_medgen"} ! KATNIP

[Term]
id: MONDO:0014772
name: orofacial cleft 15
def: "Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:18307", source="MONDO:GARD"}
subset: rare
synonym: "cleft lip/palate caused by mutation in DLX4" EXACT [MONDO:design_pattern]
synonym: "DLX4 cleft lip/palate" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OFC15" EXACT ABBREVIATION [OMIM:616788]
synonym: "orofacial cleft 15" EXACT [OMIM:616788]
synonym: "orofacial cleft type 15" EXACT [MONDORULE:2, OMIM:616788]
xref: DOID:0080408 {source="MONDO:equivalentTo"}
xref: GARD:18307 {source="MONDO:GARD"}
xref: MEDGEN:909661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616788 {source="MONDO:equivalentTo"}
xref: UMLS:C4225209 {source="MEDGEN:909661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016044 {source="MONDO:Redundant", source="Orphanet:199306/btnt"} ! cleft lip/palate
intersection_of: MONDO:0016044 ! cleft lip/palate
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2917 ! DLX4
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2917 {source="MONDO:mim2gene_medgen"} ! DLX4

[Term]
id: MONDO:0014773
name: cardiac anomalies - developmental delay - facial dysmorphism syndrome
subset: gard_rare {source="GARD:17588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369891"}
subset: ordo_malformation_syndrome {source="Orphanet:369891"}
subset: orphanet_rare {source="Orphanet:369891"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiac anomalies - developmental delay - facial dysmorphism syndrome" EXACT CLINGEN_LABEL [GARD:0012999]
synonym: "impaired intellectual development and distinctive facial features with or without cardiac defects" EXACT [OMIM:616789, OMIM:genemap2]
synonym: "intellectual disability and distinctive FACIAL features with or without CARDIAC defects" RELATED [OMIM:616789]
synonym: "intellectual disability and distinctive Facial features with or without Cardiac defects" EXACT [OMIM:616789]
synonym: "intellectual disability and distinctive facial features with or without cardiac defects" RELATED [GARD:0012999]
synonym: "MED13L haploinsufficiency syndrome" RELATED [GARD:0012999]
synonym: "MED13L syndrome" RELATED [GARD:0012999]
synonym: "mental retardation and distinctive FACIAL features with or without CARDIAC defects" RELATED DEPRECATED [OMIM:616789]
synonym: "mental retardation and distinctive Facial features with or without Cardiac defects" EXACT DEPRECATED [OMIM:616789]
synonym: "MRFACD" EXACT ABBREVIATION [OMIM:616789]
xref: GARD:17588 {source="MONDO:GARD"}
xref: HGNC:22962 {source="GARD:0012999"}
xref: ICD10CM:Q87.8 {source="Orphanet:369891/attributed", source="Orphanet:369891/ntbt", source="Orphanet:369891"}
xref: MEDGEN:900924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616789 {source="Orphanet:369891/e", source="MONDO:equivalentTo", source="Orphanet:369891"}
xref: Orphanet:369891 {source="MONDO:equivalentTo"}
xref: UMLS:C4225208 {source="MEDGEN:900924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369891", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015159 {source="Orphanet:369891"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22962 {source="MONDO:mim2gene_medgen"} ! MED13L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014774
name: neuroblastoma, susceptibility to, 7
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "NBLST7" EXACT ABBREVIATION [OMIM:616792]
synonym: "neuroblastoma, susceptibility to, 7" EXACT [OMIM:616792]
synonym: "neuroblastoma, susceptibility to, 7; NBLST7" EXACT []
synonym: "neuroblastoma, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:616792]
xref: MEDGEN:899178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616792 {source="MONDO:equivalentTo"}
xref: UMLS:C4225207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899178"}
is_a: MONDO:0020573 {source="OMIM:616792"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005072 {source="OMIM:616792"} ! neuroblastoma

[Term]
id: MONDO:0014775
name: combined oxidative phosphorylation deficiency 28
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:17831", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466784"}
subset: orphanet_rare {source="Orphanet:466784"}
subset: rare
synonym: "combined oxidative phosphorylation defect type 28" EXACT [Orphanet:466784]
synonym: "combined oxidative phosphorylation deficiency 28" EXACT [OMIM:616794]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in SLC25A26" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 28" EXACT [MONDORULE:2, OMIM:616794]
synonym: "COXPD28" EXACT ABBREVIATION [OMIM:616794, Orphanet:466784]
synonym: "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect" EXACT [Orphanet:466784]
synonym: "SLC25A26 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111470 {source="MONDO:equivalentTo"}
xref: GARD:17831 {source="MONDO:GARD"}
xref: MEDGEN:1800504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616794 {source="Orphanet:466784", source="MONDO:equivalentTo"}
xref: Orphanet:466784 {source="MONDO:equivalentTo", source="OMIM:616794"}
xref: UMLS:C5569081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800504"}
is_a: MONDO:0000001 {source="OMIM:616794"} ! disease
is_a: MONDO:0000732 {source="DC-OMIM:616794", source="MONDO:Redundant", source="OMIM:616794"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0016801 {source="Orphanet:466784"} ! mitochondrial substrate carrier disorder
intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20661 {source="MONDO:mim2gene_medgen"} ! SLC25A26
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20661 {source="MONDO:mim2gene_medgen"} ! SLC25A26

[Term]
id: MONDO:0014776
name: spinocerebellar ataxia type 42
subset: gard_rare {source="GARD:17811", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:458803"}
subset: orphanet_rare {source="Orphanet:458803"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA42" EXACT ABBREVIATION [OMIM:616795, Orphanet:458803]
synonym: "spinocerebellar ataxia 42" EXACT [OMIM:616795]
synonym: "spinocerebellar ataxia type 42" EXACT [MONDORULE:2, OMIM:616795]
xref: DOID:0111742 {source="MONDO:equivalentTo"}
xref: EFO:0009059 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17811 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:458803", source="Orphanet:458803/attributed", source="Orphanet:458803/ntbt"}
xref: MEDGEN:902592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C171269 {source="MONDO:equivalentTo"}
xref: OMIM:616795 {source="MONDO:equivalentTo", source="Orphanet:458803", source="Orphanet:458803/e"}
xref: Orphanet:458803 {source="MONDO:equivalentTo"}
xref: UMLS:C4225205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902592"}
is_a: MONDO:0019793 {source="EFO:0009059", source="Orphanet:458803"} ! autosomal dominant cerebellar ataxia type III
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1394 {source="MONDO:mim2gene_medgen"} ! CACNA1G

[Term]
id: MONDO:0014777
name: hypotonia, infantile, with psychomotor retardation and characteristic facies 2
def: "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18458", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" EXACT CLINGEN_LABEL [OMIM:616801]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2" EXACT []
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80" EXACT [MONDO:design_pattern]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 2" EXACT [MONDORULE:1, OMIM:616801]
synonym: "IHPRF2" EXACT ABBREVIATION [OMIM:616801]
synonym: "UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18458 {source="MONDO:GARD"}
xref: MEDGEN:907651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616801 {source="MONDO:equivalentTo"}
xref: UMLS:C4225203 {source="MEDGEN:907651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014176 {source="DC-OMIM:616801", source="MONDO:Redundant", source="OMIM:616801"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies
intersection_of: MONDO:0014176 ! hypotonia, infantile, with psychomotor retardation and characteristic facies
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26582 ! UNC80
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26582 {source="MONDO:mim2gene_medgen"} ! UNC80

[Term]
id: MONDO:0014778
name: Lamb-Shaffer syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22211", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:530983"}
subset: orphanet_rare {source="Orphanet:530983"}
subset: rare
synonym: "Lamb-Shaffer syndrome" EXACT CLINGEN_LABEL [OMIM:616803]
synonym: "Lamb-Shaffer syndrome; LAMSHF" EXACT []
synonym: "LAMSHF" EXACT ABBREVIATION [OMIM:616803]
xref: GARD:22211 {source="MONDO:GARD"}
xref: MEDGEN:903542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616803 {source="MONDO:equivalentTo"}
xref: Orphanet:530983 {source="MONDO:equivalentTo"}
xref: UMLS:C4225202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903542"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11201 {source="MONDO:mim2gene_medgen"} ! SOX5

[Term]
id: MONDO:0014779
name: Wilms tumor 6
def: "Any Wilms tumor in which the cause of the disease is a mutation in the REST gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16162", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Wilms tumor 6" EXACT [OMIM:616806]
synonym: "Wilms tumor 6, susceptibility to" RELATED [OMIM:616806, OMIM:genemap2]
synonym: "Wilms tumor 6; WT6" EXACT []
synonym: "Wilms tumor type 6" EXACT [MONDORULE:1, OMIM:616806]
synonym: "Wilms tumour 6, susceptibility to" RELATED OMO:0003005 []
synonym: "Wilms tumour 6; WT6" EXACT OMO:0003005 []
synonym: "Wilms tumour type 6" EXACT OMO:0003005 []
synonym: "WT6" EXACT ABBREVIATION [OMIM:616806]
xref: GARD:16162 {source="MONDO:GARD"}
xref: MEDGEN:855962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616806 {source="MONDO:equivalentTo"}
xref: UMLS:C3891301 {source="MEDGEN:855962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003321 {source="MONDO:Redundant", source="OMIM:616806"} ! hereditary Wilms tumor
is_a: MONDO:0019004 {source="DC-OMIM:616806"} ! kidney Wilms tumor
intersection_of: MONDO:0003321 ! hereditary Wilms tumor
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9966 ! REST
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9966 {source="MONDO:mim2gene_medgen"} ! REST
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014780
name: hyperphosphatasia with intellectual disability syndrome 6
def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glycosylphosphatidylinositol biosynthesis defect 12" RELATED [OMIM:616809]
synonym: "HPMRS6" EXACT ABBREVIATION [OMIM:616809]
synonym: "hyperphosphatasia with intellectual disability syndrome 6" EXACT [OMIM:616809]
synonym: "hyperphosphatasia with intellectual disability syndrome 6; HPMRS6" EXACT []
synonym: "hyperphosphatasia with intellectual disability syndrome type 6" EXACT [MONDORULE:1, OMIM:616809]
synonym: "hyperphosphatasia with mental retardation syndrome 6" EXACT DEPRECATED [OMIM:616809]
synonym: "hyperphosphatasia with mental retardation syndrome type 6" EXACT DEPRECATED [MONDORULE:1, OMIM:616809]
synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY" EXACT [MONDO:design_pattern]
synonym: "PIGY hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070437 {source="MONDO:equivalentTo"}
xref: GARD:18354 {source="MONDO:GARD"}
xref: MEDGEN:906509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616809 {source="MONDO:equivalentTo"}
xref: UMLS:C4225201 {source="MEDGEN:906509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616809", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome
intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28213 ! PIGY
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28213 {source="MONDO:mim2gene_medgen"} ! PIGY

[Term]
id: MONDO:0014781
name: combined oxidative phosphorylation deficiency 29
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:478029"}
subset: orphanet_rare {source="Orphanet:478029"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 29" EXACT [MONDO:0033187, OMIM:616811]
synonym: "combined oxidative phosphorylation deficiency 29; COXPD29" EXACT []
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TXN2" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 29" EXACT [MONDORULE:2, OMIM:616811]
synonym: "COXPD29" EXACT ABBREVIATION [OMIM:616811]
synonym: "TXN2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111501 {source="MONDO:equivalentTo"}
xref: GARD:17863 {source="MONDO:GARD"}
xref: MEDGEN:1799030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616811 {source="MONDO:equivalentTo"}
xref: Orphanet:478029 {source="MONDO:equivalentTo"}
xref: UMLS:C5567607 {source="MEDGEN:1799030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:478029"} ! disease
is_a: MONDO:0000732 {source="DC-OMIM:616811", source="MONDO:Redundant", source="OMIM:616811"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0024237 {source="Orphanet:478029"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17772 ! TXN2
relationship: has_characteristic HP:0000007 {source="Orphanet:478029"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17772 {source="MONDO:mim2gene_medgen"} ! TXN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5760" xsd:anyURI

[Term]
id: MONDO:0014782
name: autosomal recessive limb-girdle muscular dystrophy type 2X
def: "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers." [Orphanet:476084]
subset: gard_rare {source="GARD:17847", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:476084"}
subset: orphanet_rare {source="Orphanet:476084"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome" EXACT [Orphanet:476084]
synonym: "BVES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD2X" EXACT ABBREVIATION [DOID:0110290, OMIM:616812, Orphanet:476084]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 25" EXACT [OMIM:616812, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2X" EXACT [DOID:0110290]
synonym: "muscular dystrophy, limb-girdle, type 2x" EXACT [OMIM:616812]
xref: DOID:0110290 {source="MONDO:equivalentTo"}
xref: GARD:17847 {source="MONDO:GARD"}
xref: MEDGEN:1799561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616812 {source="DOID:0110290", source="MONDO:equivalentTo", source="Orphanet:476084"}
xref: Orphanet:476084 {source="DOID:0110290", source="MONDO:equivalentTo"}
xref: UMLS:C5568138 {source="MEDGEN:1799561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="DOID:0110290", source="MONDO:Redundant", source="OMIM:616812", source="Orphanet:476084"} ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1152 ! BVES
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1152 {source="MONDO:mim2gene_medgen"} ! BVES
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014783
name: obsolete preimplantation embryonic lethality 1
def: "OBSOLETE. Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "preimplantation embryonic lethality" BROAD [OMIM:616814, OMIM:genemap2]
synonym: "preimplantation embryonic lethality 1" EXACT [OMIM:616814]
synonym: "preimplantation embryonic lethality 1; PREMBL1" EXACT []
synonym: "preimplantation embryonic lethality caused by mutation in TLE6" EXACT [MONDO:design_pattern]
synonym: "preimplantation embryonic lethality type 1" EXACT [MONDORULE:1, OMIM:616814]
synonym: "Prembl" RELATED [OMIM:616814]
synonym: "PREMBL1" EXACT ABBREVIATION [OMIM:616814]
synonym: "TLE6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: OMIM:616814 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5091" xsd:anyURI
is_obsolete: true
consider: HP:0032479

[Term]
id: MONDO:0014784
name: severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
def: "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size." [Orphanet:467176]
subset: gard_rare {source="GARD:17840", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:467176"}
subset: orphanet_rare {source="Orphanet:467176"}
subset: rare
synonym: "hypotonia, infantile, with psychomotor retardation" EXACT [OMIM:616816]
synonym: "IHPMR" EXACT ABBREVIATION [OMIM:616816]
xref: GARD:17840 {source="MONDO:GARD"}
xref: MEDGEN:902080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616816 {source="MONDO:equivalentTo", source="Orphanet:467176"}
xref: Orphanet:467176 {source="MONDO:equivalentTo"}
xref: UMLS:C4225196 {source="MEDGEN:902080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0019952 {source="Orphanet:467176", source="https://orcid.org/0000-0001-5208-3432"} ! congenital myopathy
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28033 {source="MONDO:mim2gene_medgen"} ! CCDC174

[Term]
id: MONDO:0014785
name: microcephaly, short stature, and impaired glucose metabolism 2
def: "Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18460", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microcephaly, short stature, and impaired glucose metabolism 2" EXACT [OMIM:616817]
synonym: "microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2" EXACT []
synonym: "microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B" EXACT [MONDO:design_pattern]
synonym: "microcephaly, short stature, and impaired glucose metabolism type 2" EXACT [MONDORULE:1, OMIM:616817]
synonym: "MSSGM2" EXACT ABBREVIATION [OMIM:616817]
synonym: "PPP1R15B microcephaly, short stature, and impaired glucose metabolism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18460 {source="MONDO:GARD"}
xref: MEDGEN:906140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616817 {source="MONDO:equivalentTo"}
xref: Orphanet:391408 {source="OMIM:616817"}
xref: UMLS:C4225195 {source="MEDGEN:906140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800450 {source="OMIM:616817"} ! microcephaly, short stature, and impaired glucose metabolism
relationship: excluded_subClassOf MONDO:0018320 {source="Orphanet:391408/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14951 {source="MONDO:mim2gene_medgen"} ! PPP1R15B

[Term]
id: MONDO:0014786
name: IgA nephropathy, susceptibility to, 3
def: "Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "IgA glomerulonephritis caused by mutation in SPRY2" EXACT [MONDO:design_pattern]
synonym: "IgA nephropathy, susceptibility to, 3" EXACT [OMIM:616818]
synonym: "IgA nephropathy, susceptibility to, 3; IGAN3" EXACT []
synonym: "IgA nephropathy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:616818]
synonym: "IGAN3" EXACT ABBREVIATION [OMIM:616818]
synonym: "SPRY2 IgA glomerulonephritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "susceptibility to IgA nephropathy 3" RELATED [OMIM:616818]
xref: MEDGEN:897340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616818 {source="MONDO:equivalentTo"}
xref: UMLS:C4225194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897340"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11270 ! SPRY2
intersection_of: predisposes_towards MONDO:0005342 ! IgA glomerulonephritis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11270 {source="MONDO:mim2gene_medgen"} ! SPRY2

[Term]
id: MONDO:0014787
name: severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
subset: gard_rare {source="GARD:17824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466688"}
subset: ordo_malformation_syndrome {source="Orphanet:466688"}
subset: orphanet_rare {source="Orphanet:466688"}
subset: rare
synonym: "Birk-Flusser syndrome" RELATED [OMIM:616819]
synonym: "CCAFCA" EXACT ABBREVIATION [OMIM:616819]
synonym: "corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia" RELATED [OMIM:616819]
synonym: "corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia" EXACT [OMIM:616819]
xref: GARD:17824 {source="MONDO:GARD"}
xref: MEDGEN:902346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616819 {source="Orphanet:466688", source="MONDO:equivalentTo"}
xref: Orphanet:466688 {source="MONDO:equivalentTo"}
xref: UMLS:C4225193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902346"}
is_a: MONDO:0015159 {source="Orphanet:466688"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:466688", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25491 {source="MONDO:mim2gene_medgen"} ! FRMD4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014788
name: autosomal recessive limb-girdle muscular dystrophy type 2W
def: "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration." [Orphanet:466801]
subset: gard_rare {source="GARD:17834", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2" EXACT [MONDO:design_pattern]
synonym: "LGMD2W" EXACT ABBREVIATION [DOID:0110288, OMIM:616827, Orphanet:466801]
synonym: "LIMS2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue" EXACT [OMIM:616827, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2W" EXACT [DOID:0110288]
synonym: "muscular dystrophy, limb-girdle, type 2w" EXACT [OMIM:616827]
xref: DOID:0110288 {source="MONDO:equivalentTo"}
xref: GARD:17834 {source="MONDO:GARD"}
xref: MEDGEN:897675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616827 {source="MONDO:equivalentTo", source="Orphanet:466801", source="DOID:0110288"}
xref: Orphanet:466801 {source="MONDO:equivalentTo", source="DOID:0110288"}
xref: UMLS:C4225192 {source="MEDGEN:897675", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="DOID:0110288", source="MONDO:Redundant", source="OMIM:616827", source="Orphanet:466801"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0019056 ! neuromuscular disease
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16084 ! LIMS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16084 {source="MONDO:mim2gene_medgen"} ! LIMS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014789
name: CCDC115-CDG
subset: gard_rare {source="GARD:17845", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468684"}
subset: orphanet_rare {source="Orphanet:468684"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIo" EXACT [Orphanet:468684]
synonym: "CDG IIo" RELATED [OMIM:616828]
synonym: "CDG syndrome type IIo" EXACT [Orphanet:468684]
synonym: "CDG-IIo" EXACT [Orphanet:468684]
synonym: "CDG2O" EXACT ABBREVIATION [OMIM:616828, Orphanet:468684]
synonym: "congenital disorder of glycosylation type 2o" EXACT [Orphanet:468684]
synonym: "congenital disorder of glycosylation type IIo" EXACT [Orphanet:468684]
synonym: "congenital disorder of glycosylation, type IIo" EXACT [OMIM:616828]
xref: DOID:0070267 {source="MONDO:equivalentTo"}
xref: GARD:17845 {source="MONDO:GARD"}
xref: MEDGEN:906792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616828 {source="MONDO:equivalentTo", source="Orphanet:468684"}
xref: Orphanet:468684 {source="MONDO:equivalentTo"}
xref: UMLS:C4225191 {source="MONDO:equivalentTo", source="MEDGEN:906792", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="DC-OMIM:616828", source="OMIM:616828"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017749 {source="Orphanet:468684"} ! disorder of multiple glycosylation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018799"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28178 {source="MONDO:mim2gene_medgen"} ! CCDC115

[Term]
id: MONDO:0014790
name: TMEM199-CDG
subset: gard_rare {source="GARD:17825", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466703"}
subset: orphanet_rare {source="Orphanet:466703"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type IIp" EXACT [Orphanet:466703]
synonym: "CDG IIp" RELATED [OMIM:616829]
synonym: "CDG syndrome type IIp" EXACT [Orphanet:466703]
synonym: "CDG-IIp" EXACT [Orphanet:466703]
synonym: "CDG2P" EXACT ABBREVIATION [OMIM:616829, Orphanet:466703]
synonym: "congenital disorder of glycosylation type 2p" EXACT [Orphanet:466703]
synonym: "congenital disorder of glycosylation type IIp" EXACT [Orphanet:466703]
synonym: "congenital disorder of glycosylation, type IIp" EXACT [OMIM:616829]
xref: DOID:0070268 {source="MONDO:equivalentTo"}
xref: GARD:17825 {source="MONDO:GARD"}
xref: MEDGEN:895025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616829 {source="MONDO:equivalentTo", source="Orphanet:466703"}
xref: Orphanet:466703 {source="MONDO:equivalentTo"}
xref: UMLS:C4225190 {source="MEDGEN:895025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="DC-OMIM:616829", source="OMIM:616829"} ! congenital disorder of glycosylation type II
is_a: MONDO:0017749 {source="Orphanet:466703"} ! disorder of multiple glycosylation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018799"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18085 {source="MONDO:mim2gene_medgen"} ! TMEM199

[Term]
id: MONDO:0014791
name: Luscan-Lumish syndrome
subset: gard_rare {source="GARD:13789", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597738"}
subset: orphanet_rare {source="Orphanet:597738"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LLs" EXACT ABBREVIATION [OMIM:616831]
synonym: "Luscan-Lumish syndrome" EXACT CLINGEN_LABEL [OMIM:616831]
synonym: "Luscan-Lumish syndrome; LLs" EXACT []
synonym: "SETD2-related overgrowth syndrome" EXACT [Orphanet:597738]
xref: GARD:13789 {source="MONDO:GARD"}
xref: MEDGEN:898669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616831 {source="MONDO:equivalentTo"}
xref: Orphanet:597738 {source="MONDO:equivalentTo"}
xref: UMLS:C4085873 {source="MEDGEN:898669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18420 {source="MONDO:mim2gene_medgen"} ! SETD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0014792
name: Paget disease of bone 6
synonym: "Paget disease of bone 6" EXACT [OMIM:616833]
synonym: "Paget disease of bone 6; PDB6" EXACT []
synonym: "Paget disease of bone type 6" EXACT [MONDORULE:1, OMIM:616833]
synonym: "PDB6" EXACT ABBREVIATION [OMIM:616833]
xref: DOID:0081369 {source="MONDO:equivalentTo"}
xref: MEDGEN:908743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616833 {source="MONDO:equivalentTo"}
xref: UMLS:C4085250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908743"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005382 {source="DC-OMIM:616833", source="MONDO:Redundant", source="OMIM:616833"} ! bone Paget disease
intersection_of: MONDO:0005382 ! bone Paget disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29277 ! ZNF687
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29277 {source="MONDO:mim2gene_medgen"} ! ZNF687

[Term]
id: MONDO:0014793
name: microcephaly-congenital cataract-psoriasiform dermatitis syndrome
subset: gard_rare {source="GARD:17886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488168"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488168"}
subset: rare
synonym: "MCCPD" EXACT ABBREVIATION [OMIM:616834]
synonym: "microcephaly, congenital cataract, and psoriasiform dermatitis" EXACT [OMIM:616834]
synonym: "Sc4Mol deficiency" RELATED [OMIM:616834]
synonym: "smo deficiency" EXACT [Orphanet:488168]
synonym: "sterol-C4-methyl oxidase deficiency" EXACT [Orphanet:488168]
xref: GARD:17886 {source="MONDO:GARD"}
xref: MEDGEN:1798933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616834 {source="Orphanet:488168", source="MONDO:equivalentTo"}
xref: Orphanet:488168 {source="MONDO:equivalentTo"}
xref: UMLS:C5567510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798933"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0019240 {source="Orphanet:488168"} ! sterol biosynthesis disorder
relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10545 {source="MONDO:mim2gene_medgen"} ! MSMO1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0014794
name: Meier-Gorlin syndrome 6
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GMNN Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meier-GORLIN syndrome 6" RELATED [OMIM:616835]
synonym: "Meier-Gorlin syndrome 6" EXACT [OMIM:616835]
synonym: "Meier-Gorlin syndrome caused by mutation in GMNN" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 6" EXACT [MONDORULE:1, OMIM:616835]
synonym: "MGORS6" EXACT ABBREVIATION [OMIM:616835]
xref: DOID:0080517 {source="MONDO:equivalentTo"}
xref: GARD:16163 {source="MONDO:GARD"}
xref: MEDGEN:905079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616835 {source="MONDO:equivalentTo"}
xref: UMLS:C4225188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905079"}
is_a: MONDO:0016817 {source="DC-OMIM:616835", source="MONDO:Redundant", source="OMIM:616835"} ! Meier-Gorlin syndrome
intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17493 ! GMNN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17493 {source="MONDO:mim2gene_medgen"} ! GMNN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014795
name: exercise intolerance, riboflavin-responsive
subset: otar {source="MONDO:OTAR"}
synonym: "exercise intolerance, riboflavin-responsive" EXACT [OMIM:616839]
synonym: "RREI" RELATED ABBREVIATION [OMIM:616839]
xref: MEDGEN:896368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616839 {source="MONDO:equivalentTo"}
xref: UMLS:C4225187 {source="MEDGEN:896368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_responds_to CHEBI:17015 ! riboflavin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29683 {source="MONDO:mim2gene_medgen"} ! SLC25A32

[Term]
id: MONDO:0014796
name: autosomal recessive early-onset Parkinson disease 23
def: "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive early-onset Parkinson disease 23" EXACT CLINGEN_LABEL [DOID:0060896]
synonym: "autosomal recessive early-onset Parkinson's disease 23" RELATED [DOID:0060896]
synonym: "autosomal recessive early-onset Parksinson disease type 23" EXACT [DOID:0060896, MONDORULE:2]
synonym: "PARK23" EXACT ABBREVIATION [OMIM:616840]
synonym: "Parkinson disease 23, autosomal recessive early-onset" EXACT [OMIM:616840]
synonym: "Parkinson disease 23, autosomal recessive, early onset" EXACT [OMIM:616840, OMIM:genemap2]
synonym: "VPS13C young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "young-onset Parkinson disease caused by mutation in VPS13C" EXACT [MONDO:design_pattern]
xref: DOID:0060896 {source="MONDO:equivalentTo"}
xref: GARD:18610 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="DOID:0060896"}
xref: MEDGEN:896607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616840 {source="MONDO:equivalentTo", source="DOID:0060896"}
xref: UMLS:C4225186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896607"}
is_a: MONDO:0005180 {source="DOID:0060896/inferred", source="MONDO:Redundant", source="OMIM:616840"} ! Parkinson disease
is_a: MONDO:0017279 {source="DOID:0060896", source="MONDO:Redundant"} ! young-onset Parkinson disease
intersection_of: MONDO:0017279 ! young-onset Parkinson disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23594 ! VPS13C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23594 {source="MONDO:mim2gene_medgen"} ! VPS13C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014797
name: lymphatic malformation 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "generalised lymphatic dysplasia of Fotiou" RELATED OMO:0003005 []
synonym: "generalized lymphatic dysplasia of Fotiou" RELATED [OMIM:616843]
synonym: "LMPH3" EXACT ABBREVIATION [OMIM:616843]
synonym: "lymphedema, hereditary, 3" RELATED [OMIM:616843]
synonym: "lymphedema, hereditary, III" EXACT [OMIM:616843]
synonym: "lymphedema, hereditary, type III" EXACT [MONDORULE:3, OMIM:616843]
xref: MEDGEN:908120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616843 {source="MONDO:equivalentTo"}
xref: UMLS:C4225184 {source="MEDGEN:908120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019297 {source="DC-OMIM:616843", source="EFO:0009153"} ! lymphedema
is_a: MONDO:0019313 {source="OMIM:616843"} ! lymphatic malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28993 {source="MONDO:mim2gene_medgen"} ! PIEZO1

[Term]
id: MONDO:0014798
name: brachydactyly type A1D
def: "Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16164", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDA1D" EXACT ABBREVIATION [DOID:0110978, OMIM:616849]
synonym: "BMPR1B brachydactyly type A1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "brachydactyly type A1 caused by mutation in BMPR1B" EXACT [MONDO:design_pattern]
synonym: "brachydactyly, type A1, D" EXACT [OMIM:616849]
xref: DOID:0110978 {source="MONDO:equivalentTo"}
xref: GARD:16164 {source="MONDO:GARD"}
xref: MEDGEN:903193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616849 {source="DOID:0110978", source="MONDO:equivalentTo"}
xref: UMLS:C4225183 {source="MEDGEN:903193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
relationship: excluded_subClassOf MONDO:0007215 {source="DOID:0110978", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1077 {source="MONDO:mim2gene_medgen"} ! BMPR1B

[Term]
id: MONDO:0014799
name: cataract 45
def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cataract 45" EXACT [OMIM:616851]
synonym: "cataract type 45" EXACT [DOID:0110262, MONDORULE:2, OMIM:616851]
synonym: "CTRCT45" EXACT ABBREVIATION [DOID:0110262, OMIM:616851]
synonym: "early-onset non-syndromic cataract caused by mutation in SIPA1L3" EXACT [MONDO:design_pattern]
synonym: "SIPA1L3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110262 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q12.0 {source="DOID:0110262"}
xref: MEDGEN:895198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616851 {source="MONDO:equivalentTo", source="DOID:0110262"}
xref: UMLS:C4225182 {source="MEDGEN:895198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="DOID:0110262", source="MONDO:DOID", source="MONDO:Redundant", source="OMIM:616851"} ! cataract
is_a: MONDO:0011060 {source="MONDO:Redundant", source="Orphanet:91492/btnt"} ! early-onset non-syndromic cataract
intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23801 ! SIPA1L3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23801 {source="MONDO:mim2gene_medgen"} ! SIPA1L3

[Term]
id: MONDO:0014800
name: progressive scapulohumeroperoneal distal myopathy
subset: gard_rare {source="GARD:17779", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447977"}
subset: orphanet_rare {source="Orphanet:447977"}
subset: rare
synonym: "myopathy, scapulohumeroperoneal" EXACT [OMIM:616852]
synonym: "SHPM" RELATED ABBREVIATION [OMIM:616852]
xref: GARD:17779 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:447977/attributed", source="Orphanet:447977/ntbt", source="Orphanet:447977"}
xref: MEDGEN:905125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616852 {source="Orphanet:447977", source="MONDO:equivalentTo", source="Orphanet:447977/e"}
xref: Orphanet:447977 {source="MONDO:equivalentTo"}
xref: UMLS:C4225181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905125"}
is_a: MONDO:0016106 {source="Orphanet:447977"} ! progressive muscular dystrophy
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! alpha-actinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/129 {source="MONDO:mim2gene_medgen"} ! ACTA1

[Term]
id: MONDO:0014801
name: even-plus syndrome
subset: gard_rare {source="GARD:17913", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:496751"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:496751"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations" RELATED [OMIM:616854]
synonym: "epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome" EXACT [Orphanet:496751]
synonym: "even-plus syndrome" EXACT [OMIM:616854]
synonym: "EVPLS" EXACT ABBREVIATION [OMIM:616854]
xref: GARD:17913 {source="MONDO:GARD"}
xref: MEDGEN:904613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616854 {source="Orphanet:496751", source="MONDO:equivalentTo"}
xref: Orphanet:496751 {source="MONDO:equivalentTo"}
xref: UMLS:C4225180 {source="MEDGEN:904613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0015161 {source="Orphanet:496751"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016761 {source="Orphanet:496751", source="PMID:31633310"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5244 {source="MONDO:mim2gene_medgen"} ! HSPA9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014802
name: Cowden syndrome 7
def: "Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16470", source="MONDO:GARD"}
subset: rare
synonym: "Cowden disease caused by mutation in SEC23B" EXACT [MONDO:design_pattern]
synonym: "Cowden syndrome 7" EXACT [OMIM:616858]
synonym: "Cowden syndrome type 7" EXACT [MONDORULE:1, OMIM:616858]
synonym: "CWS7" RELATED ABBREVIATION [OMIM:616858]
synonym: "SEC23B Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081003 {source="MONDO:equivalentTo"}
xref: GARD:16470 {source="MONDO:GARD"}
xref: MEDGEN:908796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616858 {source="MONDO:equivalentTo"}
xref: UMLS:C4225179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908796"}
is_a: MONDO:0016063 {source="DC-OMIM:616858", source="MONDO:Redundant", source="OMIM:616858"} ! Cowden disease
intersection_of: MONDO:0016063 ! Cowden disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10702 ! SEC23B
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:616858"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10702 {source="MONDO:mim2gene_medgen"} ! SEC23B

[Term]
id: MONDO:0014803
name: spasticity-ataxia-gait anomalies syndrome
subset: gard_rare {source="GARD:12681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401866"}
subset: orphanet_rare {source="Orphanet:401866"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood-onset spasticity with hyperglycinemia" RELATED [Orphanet:401866]
synonym: "childhood-onset spasticity with variant non-ketotic hyperglycinemia" EXACT [Orphanet:401866]
synonym: "SPAHGC" EXACT ABBREVIATION [OMIM:616859]
synonym: "spasticity, childhood-onset, with hyperglycinemia" EXACT [OMIM:616859]
xref: GARD:12681 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:401866/attributed", source="Orphanet:401866/ntbt", source="Orphanet:401866"}
xref: MEDGEN:905660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616859 {source="Orphanet:401866", source="MONDO:equivalentTo", source="Orphanet:401866/e"}
xref: Orphanet:401866 {source="MONDO:equivalentTo"}
xref: UMLS:C4225178 {source="MEDGEN:905660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017845 {source="Orphanet:401866"} ! spastic ataxia
is_a: MONDO:0018424 {source="Orphanet:401866"} ! inherited lipoic acid biosynthesis defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20134 {source="MONDO:mim2gene_medgen"} ! GLRX5

[Term]
id: MONDO:0014804
name: sideroblastic anemia 3
subset: gard_rare {source="GARD:17235", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:255132"}
subset: orphanet_rare {source="Orphanet:255132"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset autosomal recessive sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "adult-onset autosomal recessive sideroblastic anemia" EXACT [Orphanet:255132]
synonym: "anemia, sideroblastic, 3, pyridoxine-refractory" EXACT [OMIM:616860]
synonym: "GLRX5-related sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "GLRX5-related sideroblastic anemia" EXACT [Orphanet:255132]
synonym: "SIDBA3" EXACT ABBREVIATION [OMIM:616860]
xref: DOID:0080343 {source="MONDO:equivalentTo"}
xref: GARD:17235 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:255132", source="Orphanet:255132/attributed", source="Orphanet:255132/ntbt"}
xref: MEDGEN:895975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616860 {source="Orphanet:255132", source="DOID:0080343", source="MONDO:equivalentTo", source="Orphanet:255132/e"}
xref: Orphanet:255132 {source="MONDO:equivalentTo"}
xref: SCTID:720465002 {source="MONDO:equivalentTo"}
xref: UMLS:C4225155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895975"}
is_a: MONDO:0006025 {source="DOID:0080343"} ! autosomal recessive disease
is_a: MONDO:0015194 {source="DOID:0080343", source="MONDO:Redundant", source="OMIM:616860", source="Orphanet:255132/inferred"} ! sideroblastic anemia
is_a: MONDO:0016801 {source="Orphanet:255132"} ! mitochondrial substrate carrier disorder
intersection_of: MONDO:0015194 ! sideroblastic anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20134 ! GLRX5
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616860", source="Orphanet:255132"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20134 {source="MONDO:mim2gene_medgen"} ! GLRX5

[Term]
id: MONDO:0014805
name: Hao-Fountain syndrome
def: "A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus)." [Orphanet:643549]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1917"}
subset: ordo_disorder {source="Orphanet:643549"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:643549"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HAFOUS" EXACT ABBREVIATION [OMIM:616863]
synonym: "USP7-Related Diseases" EXACT [NORD:1917]
xref: MEDGEN:1719035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1917 {source="MONDO:NORD"}
xref: Orphanet:643549 {source="MONDO:equivalentTo"}
xref: UMLS:C5393908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1719035"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500055", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0014806
name: spinal muscular atrophy with congenital bone fractures 1
def: "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:4947", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4" EXACT [MONDO:design_pattern]
synonym: "SMA1 with congenital bone fractures" RELATED [GARD:0004947]
synonym: "SMABF1" EXACT ABBREVIATION [OMIM:616866]
synonym: "spinal muscular atrophy type 1 with congenital bone fractures" RELATED [GARD:0004947]
synonym: "spinal muscular atrophy with congenital bone fractures 1" EXACT CLINGEN_LABEL [OMIM:616866]
synonym: "spinal muscular atrophy with congenital bone fractures type 1" EXACT [MONDORULE:1, OMIM:616866]
synonym: "spinal muscular atrophy, type I, with congenital bone fractures" EXACT [MONDO:0010059, OMIM:271225]
synonym: "TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:4947 {source="MONDO:GARD"}
xref: MEDGEN:896011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564805 {source="MONDO:equivalentTo"}
xref: OMIM:271225 {source="MONDO:equivalentObsolete"}
xref: OMIM:616866 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C4225177 {source="MEDGEN:896011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000209 {source="DC-OMIM:616866", source="MONDO:Redundant", source="OMIM:616866"} ! prenatal-onset spinal muscular atrophy with congenital bone fractures
is_a: MONDO:0003847 {source="MESH:C564805/inferred"} ! hereditary disease
intersection_of: MONDO:0000209 ! prenatal-onset spinal muscular atrophy with congenital bone fractures
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12310 ! TRIP4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12310 {source="MONDO:mim2gene_medgen"} ! TRIP4

[Term]
id: MONDO:0014807
name: spinal muscular atrophy with congenital bone fractures 2
def: "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18495", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1" EXACT [MONDO:design_pattern]
synonym: "SMABF2" EXACT ABBREVIATION [OMIM:616867]
synonym: "spinal muscular atrophy with congenital bone fractures 2" EXACT [OMIM:616867]
synonym: "spinal muscular atrophy with congenital bone fractures type 2" EXACT [MONDORULE:1, OMIM:616867]
xref: GARD:18495 {source="MONDO:GARD"}
xref: MEDGEN:907910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616867 {source="MONDO:equivalentTo"}
xref: UMLS:C4225176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907910"}
is_a: MONDO:0000209 {source="DC-OMIM:616867", source="MONDO:Redundant", source="OMIM:616867"} ! prenatal-onset spinal muscular atrophy with congenital bone fractures
intersection_of: MONDO:0000209 ! prenatal-onset spinal muscular atrophy with congenital bone fractures
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24268 ! ASCC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24268 {source="MONDO:mim2gene_medgen"} ! ASCC1

[Term]
id: MONDO:0014808
name: congenital secretory sodium diarrhea 8
def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18261", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital secretory sodium diarrhea type 8" EXACT [DOID:0060777, MONDORULE:1]
synonym: "congenital secretory sodium diarrhoea type 8" EXACT OMO:0003005 []
synonym: "DIAR8" EXACT ABBREVIATION [DOID:0060777, OMIM:616868]
synonym: "diarrhea 8, secretory sodium, congenital" EXACT [OMIM:616868]
synonym: "diarrhea, congenital sodium" RELATED [OMIM:616868]
synonym: "diarrhoea 8, secretory sodium, congenital" EXACT OMO:0003005 []
synonym: "secretory diarrhea caused by mutation in SLC9A3" EXACT [MONDO:design_pattern]
synonym: "secretory diarrhoea caused by mutation in SLC9A3" EXACT OMO:0003005 []
synonym: "SLC9A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SLC9A3 secretory diarrhoea" EXACT OMO:0003005 []
xref: DOID:0060777 {source="MONDO:equivalentTo"}
xref: GARD:18261 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="DOID:0060777"}
xref: MEDGEN:1783137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616868 {source="MONDO:equivalentTo", source="DOID:0060777"}
xref: Orphanet:103908 {source="DOID:0060777"}
xref: UMLS:C5441928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783137"}
is_a: MONDO:0000249 {source="DOID:0060777", source="MONDO:indirect"} ! secretory diarrhea
is_a: MONDO:0000824 {source="DC-OMIM:616868", source="MONDO:Redundant", source="OMIM:616868"} ! congenital diarrhea
is_a: MONDO:0015170 {source="Orphanet:103908/btnt"} ! congenital sodium diarrhea
is_a: MONDO:0045032 {source="MONDO:Redundant"} ! congenital secretory diarrhea
intersection_of: MONDO:0000249 ! secretory diarrhea
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11073 ! SLC9A3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11073 {source="MONDO:mim2gene_medgen"} ! SLC9A3

[Term]
id: MONDO:0014809
name: DDX41-related hematologic malignancy predisposition syndrome
def: "Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene." [MONDO:design_pattern]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17899", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488647"}
subset: orphanet_rare {source="Orphanet:488647"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DDX41 hereditary neoplastic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DDX41-related hematologic malignancy predisposition syndrome" EXACT CLINGEN_LABEL []
synonym: "hereditary neoplastic syndrome caused by mutation in DDX41" EXACT [MONDO:design_pattern]
synonym: "MPLPF" EXACT ABBREVIATION [OMIM:616871]
synonym: "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" EXACT [OMIM:616871]
synonym: "susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms" RELATED [OMIM:616871]
xref: GARD:17899 {source="MONDO:GARD"}
xref: MEDGEN:895780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616871 {source="MONDO:equivalentTo", source="Orphanet:488647"}
xref: Orphanet:488647 {source="MONDO:equivalentTo"}
xref: UMLS:C4225174 {source="MEDGEN:895780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0015356 {source="MONDO:Redundant", source="Orphanet:488647"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18674 ! DDX41
intersection_of: predisposes_towards MONDO:0006311 ! myelodysplastic/myeloproliferative neoplasm
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18674 {source="MONDO:mim2gene_medgen"} ! DDX41

[Term]
id: MONDO:0014810
name: pancytopenia due to IKZF1 mutations
def: "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene." [MONDO:design_pattern]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:317473"}
subset: orphanet_rare {source="Orphanet:317473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cid due to IKAROS deficiency" EXACT [Orphanet:317473]
synonym: "combined immunodeficiency due to IKAROS deficiency" EXACT [Orphanet:317473]
synonym: "CVID13" EXACT ABBREVIATION [OMIM:616873]
synonym: "IKZF1 syndrome with combined immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "immunodeficiency, common variable, 13" EXACT [OMIM:616873]
synonym: "immunodeficiency, common variable, type 13" EXACT [MONDORULE:2, OMIM:616873]
synonym: "syndrome with combined immunodeficiency caused by mutation in IKZF1" EXACT [MONDO:design_pattern]
xref: DOID:0081155 {source="MONDO:equivalentTo"}
xref: GARD:17442 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:317473", source="Orphanet:317473/attributed", source="Orphanet:317473/ntbt"}
xref: MEDGEN:905078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616873 {source="MONDO:equivalentTo", source="Orphanet:317473", source="Orphanet:317473/e"}
xref: Orphanet:317473 {source="MONDO:equivalentTo"}
xref: UMLS:C4225173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905078"}
is_a: MONDO:0015517 {source="DC-OMIM:616873", source="OMIM:616873"} ! common variable immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13176 {source="MONDO:mim2gene_medgen"} ! IKZF1

[Term]
id: MONDO:0014811
name: cerebellar atrophy, visual impairment, and psychomotor retardation;
subset: inferred_rare
subset: rare
synonym: "CAVIPMR" RELATED ABBREVIATION [OMIM:616875]
synonym: "cerebellar atrophy, visual impairment, and psychomotor retardation" RELATED [OMIM:616875]
xref: DOID:0081276 {source="MONDO:equivalentTo"}
xref: MEDGEN:905041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616875 {source="MONDO:equivalentTo"}
xref: UMLS:C4225172 {source="MEDGEN:905041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100516 {source="https://www.clinicalgenome.org/affiliation/40113/"} ! complex neurodevelopmental disorder with motor features
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28957 {source="MONDO:mim2gene_medgen"} ! EMC1

[Term]
id: MONDO:0014812
name: obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3089" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018820

[Term]
id: MONDO:0014813
name: hypomyelinating leukodystrophy 13
def: "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HIKESHI leukodystrophy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "hikeshi leukodystrophy" EXACT [MONDO:design_pattern]
synonym: "HLD13" EXACT ABBREVIATION [DOID:0060795, OMIM:616881]
synonym: "hypomyelinating leukodystrophy type 13" EXACT [DOID:0060795, MONDORULE:2]
synonym: "leukodystrophy caused by mutation in HIKESHI" EXACT []
synonym: "leukodystrophy caused by mutation in hikeshi" EXACT [MONDO:design_pattern]
synonym: "leukodystrophy, hypomyelinating, 13" EXACT [OMIM:616881]
synonym: "leukodystrophy, hypomyelinating, type 13" EXACT [MONDORULE:2, OMIM:616881]
xref: DOID:0060795 {source="MONDO:equivalentTo"}
xref: MEDGEN:896545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616881 {source="DOID:0060795", source="MONDO:equivalentTo"}
xref: UMLS:C4225170 {source="MONDO:equivalentTo", source="MEDGEN:896545", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="DOID:0060795", source="DOID:0060795/inferred", source="MONDO:Redundant", source="OMIM:616881"} ! leukodystrophy
intersection_of: MONDO:0019046 ! leukodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26938 ! HIKESHI
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26938 {source="MONDO:mim2gene_medgen"} ! HIKESHI

[Term]
id: MONDO:0014814
name: advanced sleep phase syndrome 3
def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16165", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "advanced sleep phase syndrome caused by mutation in PER3" EXACT [MONDO:design_pattern]
synonym: "advanced sleep phase syndrome type 3" EXACT [DOID:0110013, MONDORULE:1]
synonym: "advanced sleep phase syndrome, familial, 3" EXACT [OMIM:616882]
synonym: "advanced sleep phase syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:616882]
synonym: "familial advanced sleep phase syndrome 3" EXACT [DOID:0110013]
synonym: "FASPS3" EXACT ABBREVIATION [DOID:0110013, OMIM:616882]
synonym: "PER3 advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110013 {source="MONDO:equivalentTo"}
xref: GARD:16165 {source="MONDO:GARD"}
xref: MEDGEN:909447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616882 {source="MONDO:equivalentTo", source="DOID:0110013"}
xref: UMLS:C4225169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909447"}
is_a: MONDO:0015609 {source="DC-OMIM:616882", source="DOID:0110013", source="MONDO:Redundant", source="OMIM:616882"} ! advanced sleep phase syndrome
intersection_of: MONDO:0015609 ! advanced sleep phase syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8847 ! PER3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8847 {source="MONDO:mim2gene_medgen"} ! PER3

[Term]
id: MONDO:0014815
name: intellectual disability, autosomal recessive 52
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L" EXACT [MONDO:design_pattern]
synonym: "intellectual developmental disorder, autosomal recessive 52" EXACT [OMIM:616887, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 52" EXACT [OMIM:616887]
synonym: "intellectual disability, autosomal recessive type 52" EXACT [MONDORULE:2, OMIM:616887]
synonym: "LMAN2L autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 52" EXACT DEPRECATED [OMIM:616887]
synonym: "mental retardation, autosomal recessive type 52" EXACT DEPRECATED [MONDORULE:2, OMIM:616887]
synonym: "MRT52" EXACT ABBREVIATION [OMIM:616887]
xref: DOID:0081215 {source="MONDO:equivalentTo"}
xref: GARD:22572 {source="MONDO:GARD"}
xref: MEDGEN:903181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616887 {source="MONDO:equivalentTo"}
xref: UMLS:C4225168 {source="MEDGEN:903181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:616887", source="MONDO:Redundant", source="OMIM:616887"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19263 ! LMAN2L
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19263 {source="MONDO:mim2gene_medgen"} ! LMAN2L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014816
name: split-foot malformation-mesoaxial polydactyly syndrome
subset: gard_rare {source="GARD:17889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488232"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488232"}
subset: rare
synonym: "SFMMP" EXACT ABBREVIATION [OMIM:616890, Orphanet:488232]
synonym: "split-foot malformation with mesoaxial polydactyly" EXACT [OMIM:616890]
synonym: "split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome" EXACT [Orphanet:488232]
xref: GARD:17889 {source="MONDO:GARD"}
xref: MEDGEN:1798910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616890 {source="MONDO:equivalentTo", source="Orphanet:488232"}
xref: Orphanet:488232 {source="MONDO:equivalentTo"}
xref: UMLS:C5567487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798910"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0015161 {source="Orphanet:488232"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17797 {source="MONDO:mim2gene_medgen"} ! MAP3K20
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014817
name: nephrotic syndrome, type 12
def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16166", source="MONDO:GARD"}
subset: rare
synonym: "familial nephrotic syndrome caused by mutation in NUP93" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 12" EXACT [OMIM:616892]
synonym: "nephrotic syndrome, type 12; NPHS12" EXACT []
synonym: "NPHS12" EXACT ABBREVIATION [OMIM:616892]
synonym: "NUP93 familial nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080387 {source="MONDO:equivalentTo"}
xref: GARD:16166 {source="MONDO:GARD"}
xref: MEDGEN:904365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616892 {source="MONDO:equivalentTo"}
xref: UMLS:C4225166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904365"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:616892"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:616892"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28958 ! NUP93
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28958 {source="MONDO:mim2gene_medgen"} ! NUP93

[Term]
id: MONDO:0014818
name: nephrotic syndrome, type 13
def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16167", source="MONDO:GARD"}
subset: rare
synonym: "familial nephrotic syndrome caused by mutation in NUP205" EXACT [MONDO:design_pattern]
synonym: "nephrotic syndrome, type 13" EXACT [OMIM:616893]
synonym: "nephrotic syndrome, type 13; NPHS13" EXACT []
synonym: "NPHS13" EXACT ABBREVIATION [OMIM:616893]
synonym: "NUP205 familial nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080381 {source="MONDO:equivalentTo"}
xref: GARD:16167 {source="MONDO:GARD"}
xref: MEDGEN:900240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616893 {source="MONDO:equivalentTo"}
xref: UMLS:C4225165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900240"}
is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:616893"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:616893"} ! nephrotic syndrome
is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18658 ! NUP205
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18658 {source="MONDO:mim2gene_medgen"} ! NUP205

[Term]
id: MONDO:0014819
name: autosomal dominant Robinow syndrome 3
def: "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18549", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant Robinow syndrome type 3" EXACT [DOID:0060767, MONDORULE:1]
synonym: "DRS3" EXACT ABBREVIATION [DOID:0060767, OMIM:616894]
synonym: "DVL3 Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Robinow syndrome caused by mutation in DVL3" EXACT [MONDO:design_pattern]
synonym: "Robinow syndrome, autosomal dominant 3" EXACT [OMIM:616894]
synonym: "Robinow syndrome, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:616894]
xref: DOID:0060767 {source="MONDO:equivalentTo"}
xref: GARD:18549 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="DOID:0060767"}
xref: MEDGEN:907878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616894 {source="MONDO:equivalentTo", source="DOID:0060767"}
xref: Orphanet:3107 {source="DOID:0060767"}
xref: Orphanet:97360 {source="DOID:0060767"}
xref: UMLS:C4225164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907878"}
is_a: MONDO:0008389 {source="Orphanet:3107/btnt"} ! autosomal dominant Robinow syndrome
is_a: MONDO:0019978 {source="DOID:0060767", source="MONDO:Redundant", source="OMIM:616894"} ! Robinow syndrome
intersection_of: MONDO:0019978 ! Robinow syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3087 ! DVL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3087 {source="MONDO:mim2gene_medgen"} ! DVL3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014820
name: mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" EXACT [OMIM:616896]
synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14" EXACT []
synonym: "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" EXACT [OMIM:616896, OMIM:genemap2]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in OPA1" EXACT [MONDO:design_pattern]
synonym: "MTDPS14" EXACT ABBREVIATION [OMIM:616896]
synonym: "OPA1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080336 {source="MONDO:equivalentTo"}
xref: MEDGEN:903789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616896 {source="MONDO:equivalentTo"}
xref: UMLS:C4225163 {source="MEDGEN:903789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 {source="DOID:0080336"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0018158 {source="DC-OMIM:616896", source="MONDO:Redundant", source="OMIM:616896"} ! mitochondrial DNA depletion syndrome
intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 ! OPA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014821
name: complex lethal osteochondrodysplasia
subset: gard_rare {source="GARD:17807", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457378"}
subset: ordo_malformation_syndrome {source="Orphanet:457378"}
subset: orphanet_rare {source="Orphanet:457378"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type" EXACT [Orphanet:457378]
synonym: "OCLSBG" RELATED ABBREVIATION [OMIM:616897]
synonym: "osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type" RELATED [OMIM:616897]
synonym: "osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type" RELATED [OMIM:616897]
xref: GARD:17807 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:457378", source="Orphanet:457378/attributed", source="Orphanet:457378/ntbt"}
xref: MEDGEN:900688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616897 {source="Orphanet:457378", source="MONDO:equivalentTo", source="Orphanet:457378/e"}
xref: Orphanet:457378 {source="MONDO:equivalentTo"}
xref: UMLS:C4225162 {source="MEDGEN:900688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:616897"} ! hereditary disease
is_a: MONDO:0018230 {source="Orphanet:457378"} ! skeletal dysplasia
relationship: disease_has_feature HP:0004349 {source="Orphanet:457378"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:457378", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26887 {source="MONDO:mim2gene_medgen"} ! TAPT1

[Term]
id: MONDO:0014822
name: 15q14 microdeletion syndrome
def: "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." [Orphanet:261190]
subset: gard_rare {source="GARD:17242", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:261190"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261190"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 15q14 deletion syndrome" RELATED [OMIM:616898]
synonym: "Del(15)(q14)" EXACT [Orphanet:261190]
synonym: "monosomy 15q14" EXACT [Orphanet:261190]
xref: GARD:17242 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261190/attributed", source="Orphanet:261190/ntbt", source="Orphanet:261190"}
xref: MEDGEN:930899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616898 {source="Orphanet:261190/e", source="MONDO:equivalentTo", source="Orphanet:261190"}
xref: Orphanet:261190 {source="MONDO:equivalentTo"}
xref: SCTID:719575008 {source="MONDO:equivalentTo"}
xref: UMLS:C4305230 {source="MEDGEN:930899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="DC-OMIM:616898"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016913 {source="Orphanet:261190"} ! partial deletion of the long arm of chromosome 15
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr15q14 ! 15q14 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0014823
name: hypotonia, infantile, with psychomotor retardation and characteristic facies 3
def: "A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features." [Orphanet:488632]
subset: gard_rare {source="GARD:17896", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488632"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488632"}
subset: rare
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" EXACT [OMIM:616900]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 3" EXACT [MONDORULE:1, OMIM:616900]
synonym: "IHPRF3" EXACT ABBREVIATION [OMIM:616900]
synonym: "TBCK-related intellectual disability syndrome" EXACT [Orphanet:488632]
xref: DOID:0060935 {source="MONDO:equivalentTo"}
xref: GARD:17896 {source="MONDO:GARD"}
xref: MEDGEN:1798903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616900 {source="Orphanet:488632", source="MONDO:equivalentTo"}
xref: Orphanet:488632 {source="MONDO:equivalentTo"}
xref: UMLS:C5567480 {source="MEDGEN:1798903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014176 {source="DC-OMIM:616900", source="OMIM:616900"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies
is_a: MONDO:0015159 {source="MONDO:Redundant", source="Orphanet:488632"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488632", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28261 {source="MONDO:mim2gene_medgen"} ! TBCK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014824
name: obsolete craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI
is_obsolete: true
consider: MONDO:0031632
consider: MONDO:0800438

[Term]
id: MONDO:0014825
name: chromosome 11p13 deletion syndrome, distal
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:935014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616902 {source="MONDO:equivalentTo"}
xref: UMLS:C4311047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:935014"}
is_a: MONDO:0000761 {source="DC-OMIM:616902"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0016893 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 11
relationship: disease_arises_from_structure CHR:9606-chr11p13 {source="https://orcid.org/0000-0002-4142-7153"} ! 11p13 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0014826
name: obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "nucleoside diphosphate-linked moiety X Motif 15 deficiency" EXACT [OMIM:616903]
synonym: "nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D" EXACT []
synonym: "Nudt15 deficiency" RELATED [OMIM:616903]
synonym: "NUDT15D" EXACT ABBREVIATION [OMIM:616903]
synonym: "THIOPURINES, poor metabolism OF, 2" RELATED [OMIM:616903]
synonym: "Thiopurines, poor metabolism Of, 2" RELATED [OMIM:616903]
synonym: "THPM2" RELATED ABBREVIATION [OMIM:616903]
xref: OMIM:616903 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0014827
name: autosomal recessive spastic paraplegia type 76
def: "Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration." [Orphanet:488594]
subset: gard_rare {source="GARD:17892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488594"}
subset: orphanet_rare {source="Orphanet:488594"}
subset: rare
synonym: "autosomal recessive complex spastic paraplegia caused by mutation in CAPN1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive spastic paraplegia 76" EXACT [DOID:0110821]
synonym: "CAPN1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia 76" RELATED [DOID:0110821]
synonym: "hereditary spastic paraplegia type 76" EXACT [DOID:0110821, MONDORULE:2]
synonym: "spastic paraplegia 76, autosomal recessive" EXACT [OMIM:616907]
synonym: "SPG76" EXACT ABBREVIATION [DOID:0110821, OMIM:616907, Orphanet:488594]
xref: DOID:0110821 {source="MONDO:equivalentTo"}
xref: GARD:17892 {source="MONDO:GARD"}
xref: MEDGEN:1798906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616907 {source="DOID:0110821", source="MONDO:equivalentTo", source="Orphanet:488594"}
xref: Orphanet:488594 {source="MONDO:equivalentTo"}
xref: UMLS:C5567483 {source="MEDGEN:1798906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DC-OMIM:616907", source="DOID:0110821", source="EFO:0009019/inferred", source="MONDO:Redundant", source="OMIM:616907", source="Orphanet:488594/inferred"} ! hereditary spastic paraplegia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1476 {source="MONDO:mim2gene_medgen"} ! CAPN1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014828
name: immunodeficiency-centromeric instability-facial anomalies syndrome 3
def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ICF syndrome 3" EXACT [DOID:0090010]
synonym: "ICF3" RELATED ABBREVIATION [OMIM:616910]
synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3" RELATED [OMIM:616910]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 3" EXACT [OMIM:616910]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7" EXACT [MONDO:design_pattern]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 3" EXACT [MONDORULE:1, OMIM:616910]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 3" EXACT [DOID:0090010, MONDORULE:1]
xref: DOID:0090010 {source="MONDO:equivalentTo"}
xref: GARD:16168 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="DOID:0090010"}
xref: MEDGEN:934766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616910 {source="DOID:0090010", source="MONDO:equivalentTo"}
xref: UMLS:C4310799 {source="MEDGEN:934766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000133 {source="DC-OMIM:616910", source="DOID:0090010", source="MONDO:Redundant", source="OMIM:616910"} ! immunodeficiency-centromeric instability-facial anomalies syndrome
intersection_of: MONDO:0000133 ! immunodeficiency-centromeric instability-facial anomalies syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14628 ! CDCA7
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616910"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14628 {source="MONDO:mim2gene_medgen"} ! CDCA7

[Term]
id: MONDO:0014829
name: immunodeficiency-centromeric instability-facial anomalies syndrome 4
def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HELLS immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ICF syndrome 4" EXACT [DOID:0090011]
synonym: "ICF4" RELATED ABBREVIATION [OMIM:616911]
synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4" RELATED [OMIM:616911]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 4" EXACT [OMIM:616911]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS" EXACT [MONDO:design_pattern]
synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 4" EXACT [MONDORULE:1, OMIM:616911]
synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 4" EXACT [DOID:0090011, MONDORULE:1]
xref: DOID:0090011 {source="MONDO:equivalentTo"}
xref: GARD:16169 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="DOID:0090011"}
xref: MEDGEN:934765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616911 {source="DOID:0090011", source="MONDO:equivalentTo"}
xref: UMLS:C4310798 {source="MEDGEN:934765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000133 {source="DC-OMIM:616911", source="DOID:0090011", source="MONDO:Redundant", source="OMIM:616911"} ! immunodeficiency-centromeric instability-facial anomalies syndrome
intersection_of: MONDO:0000133 ! immunodeficiency-centromeric instability-facial anomalies syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4861 ! HELLS
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616911"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4861 {source="MONDO:mim2gene_medgen"} ! HELLS

[Term]
id: MONDO:0014830
name: platelet-type bleeding disorder 20
def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466806"}
subset: orphanet_rare {source="Orphanet:466806"}
subset: rare
synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EXACT [DOID:0111055]
synonym: "BDPLT20" EXACT ABBREVIATION [DOID:0111055, OMIM:616913]
synonym: "bleeding disorder, platelet-type, 20" EXACT [OMIM:616913]
synonym: "inherited bleeding disorder, platelet-type caused by mutation in SLFN14" EXACT [MONDO:design_pattern]
synonym: "SLFN14 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111055 {source="MONDO:equivalentTo"}
xref: GARD:18491 {source="MONDO:GARD"}
xref: MEDGEN:934764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616913 {source="MONDO:equivalentTo", source="DOID:0111055", source="Orphanet:466806"}
xref: Orphanet:466806 {source="MONDO:equivalentTo", source="DOID:0111055"}
xref: UMLS:C4310797 {source="MEDGEN:934764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="DC-OMIM:616913", source="MONDO:Redundant", source="OMIM:616913"} ! inherited bleeding disorder, platelet-type
intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32689 ! SLFN14
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32689 {source="MONDO:mim2gene_medgen"} ! SLFN14

[Term]
id: MONDO:0014831
name: progeroid and marfanoid aspect-lipodystrophy syndrome
subset: gard_rare {source="GARD:17371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300382"}
subset: orphanet_rare {source="Orphanet:300382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Marfan lipodystrophy syndrome" EXACT [OMIM:616914]
synonym: "Marfan-progeroid-lipodystrophy syndrome" RELATED [OMIM:616914]
synonym: "Marfanoid-progeroid syndrome" RELATED [OMIM:616914]
synonym: "MFLS" RELATED ABBREVIATION [OMIM:616914]
xref: GARD:17371 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:300382/attributed", source="Orphanet:300382/ntbt", source="Orphanet:300382"}
xref: MEDGEN:934763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616914 {source="Orphanet:300382/e", source="MONDO:equivalentTo", source="Orphanet:300382"}
xref: Orphanet:300382 {source="MONDO:equivalentTo"}
xref: UMLS:C4310796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934763"}
is_a: MONDO:0003847 {source="Orphanet:300382/inferred"} ! hereditary disease
is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disorder of connective tissue
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1

[Term]
id: MONDO:0014832
name: intellectual disability, autosomal recessive 53
alt_id: MONDO:0024253
subset: gard_rare {source="GARD:17897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488635"}
subset: orphanet_rare {source="Orphanet:488635"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital disorder of glycosylation due to PIGG deficiency" EXACT [Orphanet:488635]
synonym: "early-onset epilepsy-intellectual disability-brain anomalies syndrome" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 13" EXACT [OMIM:616917]
synonym: "GPIBD13" EXACT ABBREVIATION [OMIM:616917]
synonym: "intellectual developmental disorder, autosomal recessive 53" EXACT [OMIM:616917, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 53" EXACT [OMIM:616917]
synonym: "intellectual disability, autosomal recessive type 53" EXACT [MONDORULE:2, OMIM:616917]
synonym: "mental retardation, autosomal recessive 53" EXACT DEPRECATED [OMIM:616917]
synonym: "mental retardation, autosomal recessive type 53" EXACT DEPRECATED [MONDORULE:2, OMIM:616917]
synonym: "MRT53" EXACT ABBREVIATION [OMIM:616917]
synonym: "PIGG-CDG" EXACT [Orphanet:488635]
xref: GARD:17897 {source="MONDO:GARD"}
xref: MEDGEN:934761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616917 {source="MONDO:equivalentTo", source="Orphanet:488635"}
xref: Orphanet:488635 {source="MONDO:equivalentTo"}
xref: UMLS:C4310794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934761"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488635", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0017748 {source="Orphanet:488635"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process
relationship: excluded_subClassOf MONDO:0019502 {source="DC-OMIM:616917", source="OMIM:616917", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive non-syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25985 {source="MONDO:mim2gene_medgen"} ! PIGG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014833
name: heart and brain malformation syndrome
synonym: "HBMS" EXACT ABBREVIATION [OMIM:616920]
synonym: "heart and brain malformation syndrome" EXACT [OMIM:616920]
synonym: "heart and brain malformation syndrome; HBMS" EXACT []
xref: MEDGEN:934760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616920 {source="MONDO:equivalentTo"}
xref: UMLS:C4310793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934760"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25763 {source="MONDO:mim2gene_medgen"} ! SMG9

[Term]
id: MONDO:0014834
name: obsolete dyskinesia, limb and orofacial, infantile-onset
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5761" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044637

[Term]
id: MONDO:0014835
name: striatal degeneration, autosomal dominant 2
def: "Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADSD2" EXACT ABBREVIATION [OMIM:616922]
synonym: "PDE10A striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "striatal degeneration, autosomal dominant" BROAD [OMIM:616922, OMIM:genemap2]
synonym: "striatal Degeneration, autosomal dominant 2" EXACT [OMIM:616922]
synonym: "striatal degeneration, autosomal dominant 2; ADSD2" EXACT []
synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE10A" EXACT [MONDO:design_pattern]
synonym: "striatal Degeneration, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616922]
xref: MEDGEN:934758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616922 {source="MONDO:equivalentTo"}
xref: UMLS:C4310791 {source="MEDGEN:934758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000211 {source="DC-OMIM:616922", source="MONDO:Redundant", source="OMIM:616922"} ! striatal degeneration, autosomal dominant
intersection_of: MONDO:0000211 ! striatal degeneration, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8772 ! PDE10A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8772 {source="MONDO:mim2gene_medgen"} ! PDE10A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014836
name: Charcot-Marie-Tooth disease axonal type 2CC
def: "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease axonal type 2CC" EXACT CLINGEN_LABEL []
synonym: "Charcot-Marie-Tooth disease caused by mutation in NEFH" EXACT [MONDO:design_pattern]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2CC" RELATED [OMIM:616924]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2cc" EXACT [OMIM:616924]
synonym: "Charcot-Marie-Tooth neuropathy type 2CC" EXACT [DOID:0110180]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Cc" RELATED [OMIM:616924]
synonym: "CMT2CC" EXACT ABBREVIATION [DOID:0110180, OMIM:616924]
synonym: "NEFH Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110180 {source="MONDO:equivalentTo"}
xref: MEDGEN:934757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616924 {source="DOID:0110180", source="MONDO:equivalentTo"}
xref: UMLS:C4310790 {source="MEDGEN:934757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0110180/inferred", source="MONDO:Redundant", source="OMIM:616924"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110180"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7737 ! NEFH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7737 {source="MONDO:mim2gene_medgen"} ! NEFH

[Term]
id: MONDO:0014837
name: thrombocytopenia 6
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17870", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480851"}
subset: orphanet_rare {source="Orphanet:480851"}
subset: rare
synonym: "hereditary thrombocytopenia with early-onset myelofibrosis" EXACT [Orphanet:480851]
synonym: "THC6" RELATED ABBREVIATION [OMIM:616937]
synonym: "thrombocytopenia 6" EXACT [OMIM:616937]
synonym: "thrombocytopenia type 6" EXACT [MONDORULE:1, OMIM:616937]
synonym: "thrombocytopenia, autosomal dominant, 6" RELATED [OMIM:616937]
xref: GARD:17870 {source="MONDO:GARD"}
xref: MEDGEN:934756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616937 {source="MONDO:equivalentTo", source="Orphanet:480851"}
xref: Orphanet:480851 {source="MONDO:equivalentTo"}
xref: UMLS:C4310789 {source="MEDGEN:934756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018795 {source="Orphanet:480851"} ! syndromic constitutional thrombocytopenia
is_a: MONDO:0020076 {source="Orphanet:480851"} ! myeloproliferative neoplasm
is_a: MONDO:0100241 {source="DC-OMIM:616937", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia
intersection_of: MONDO:0100241 ! inherited thrombocytopenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11283 ! SRC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11283 {source="MONDO:mim2gene_medgen"} ! SRC

[Term]
id: MONDO:0014838
name: Coffin-Siris syndrome 5
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COFFIN-SIRIS syndrome 5" RELATED [OMIM:616938]
synonym: "Coffin-Siris syndrome 5" EXACT [OMIM:616938]
synonym: "Coffin-Siris syndrome caused by mutation in SMARCE1" EXACT [MONDO:design_pattern]
synonym: "Coffin-Siris syndrome type 5" EXACT [MONDORULE:1, OMIM:616938]
synonym: "CSS5" RELATED ABBREVIATION [OMIM:616938]
synonym: "SMARCE1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112368 {source="MONDO:equivalentTo"}
xref: GARD:16170 {source="MONDO:GARD"}
xref: MEDGEN:934755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616938 {source="MONDO:equivalentTo"}
xref: UMLS:C4310788 {source="MEDGEN:934755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015452 {source="DC-OMIM:616938", source="MONDO:Redundant", source="OMIM:616938", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
intersection_of: MONDO:0015452 ! Coffin-Siris syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11109 ! SMARCE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11109 {source="OMIM:616938", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014839
name: chorea, childhood-onset, with psychomotor retardation
subset: otar {source="MONDO:OTAR"}
synonym: "chorea, childhood-onset, with psychomotor retardation" EXACT [OMIM:616939]
synonym: "chorea, childhood-onset, with psychomotor retardation; COCPMR" EXACT []
synonym: "COCPMR" EXACT ABBREVIATION [OMIM:616939]
xref: MEDGEN:934754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616939 {source="MONDO:equivalentTo"}
xref: UMLS:C4310787 {source="MEDGEN:934754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4539 {source="MONDO:mim2gene_medgen"} ! GPR88

[Term]
id: MONDO:0014840
name: agammaglobulinemia 8, autosomal dominant
def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16171", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia 8, autosomal dominant" EXACT [OMIM:616941]
synonym: "agammaglobulinemia 8, autosomal dominant; AGM8" EXACT []
synonym: "agammaglobulinemia, autosomal dominant, due to TCF3 defect" RELATED [OMIM:616941]
synonym: "AGM8" EXACT ABBREVIATION [OMIM:616941]
synonym: "autosomal agammaglobulinemia caused by mutation in TCF3" EXACT [MONDO:design_pattern]
synonym: "TCF3 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081140 {source="MONDO:equivalentTo"}
xref: GARD:16171 {source="MONDO:GARD"}
xref: MEDGEN:934753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616941 {source="MONDO:equivalentTo"}
xref: UMLS:C4310786 {source="MEDGEN:934753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011096 {source="MONDO:Redundant", source="Orphanet:33110/btnt"} ! autosomal agammaglobulinemia
is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:616941"} ! agammaglobulinemia
intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11633 ! TCF3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11633 {source="MONDO:mim2gene_medgen"} ! TCF3

[Term]
id: MONDO:0014841
name: trichothiodystrophy 6, nonphotosensitive
def: "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16172", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GTF2E2 nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2" EXACT [MONDO:design_pattern]
synonym: "trichothiodystrophy 6, nonphotosensitive" EXACT [OMIM:616943]
synonym: "trichothiodystrophy 6, nonphotosensitive; TTD6" EXACT []
synonym: "TTD6" EXACT ABBREVIATION [OMIM:616943]
xref: DOID:0111872 {source="MONDO:equivalentTo"}
xref: GARD:16172 {source="MONDO:GARD"}
xref: MEDGEN:934752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616943 {source="MONDO:equivalentTo"}
xref: UMLS:C4310785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934752"}
is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:616943"} ! trichothiodystrophy
intersection_of: MONDO:0018053 ! trichothiodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4651 ! GTF2E2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4651 {source="MONDO:mim2gene_medgen"} ! GTF2E2

[Term]
id: MONDO:0014842
name: intellectual disability, autosomal dominant 41
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 41" EXACT [DOID:0070071]
synonym: "autosomal dominant mental retardation 41" EXACT DEPRECATED [DOID:0070071]
synonym: "autosomal dominant non-syndromic intellectual disability 41" RELATED [DOID:0070071]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1" EXACT [MONDO:design_pattern]
synonym: "intellectual disability, autosomal dominant 41" EXACT CLINGEN_LABEL [OMIM:616944]
synonym: "intellectual disability, autosomal dominant type 41" EXACT [MONDORULE:2, OMIM:616944]
synonym: "mental retardation, autosomal dominant 41" EXACT DEPRECATED [OMIM:616944]
synonym: "mental retardation, autosomal dominant type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:616944]
synonym: "MRD41" EXACT ABBREVIATION [DOID:0070071, OMIM:616944]
synonym: "TBL1XR1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070071 {source="MONDO:equivalentTo"}
xref: MEDGEN:934751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616944 {source="MONDO:equivalentTo", source="DOID:0070071"}
xref: UMLS:C4310784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934751"}
is_a: MONDO:0015802 {source="DC-OMIM:616944", source="DOID:0070071", source="MONDO:Redundant", source="OMIM:616944"} ! autosomal dominant non-syndromic intellectual disability
intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29529 ! TBL1XR1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29529 {source="MONDO:mim2gene_medgen"} ! TBL1XR1

[Term]
id: MONDO:0014843
name: premature ovarian failure 11
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ERCC6 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "POF11" EXACT ABBREVIATION [OMIM:616946]
synonym: "premature ovarian failure 11" EXACT [OMIM:616946]
synonym: "premature ovarian failure 11; POF11" EXACT []
synonym: "premature ovarian failure type 11" EXACT [MONDORULE:2, OMIM:616946]
synonym: "primary ovarian failure caused by mutation in ERCC6" EXACT [MONDO:design_pattern]
xref: DOID:0080868 {source="MONDO:equivalentTo", source="MONDO:preferredEquivalent"}
xref: DOID:0080869 {source="MONDO:equivalentTo"}
xref: MEDGEN:934750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616946 {source="MONDO:equivalentTo"}
xref: UMLS:C4310783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934750"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:616946", source="OMIM:616946"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6

[Term]
id: MONDO:0014844
name: premature ovarian failure 12
def: "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF12" EXACT ABBREVIATION [OMIM:616947]
synonym: "premature ovarian failure 12" EXACT [OMIM:616947]
synonym: "premature ovarian failure 12; POF12" EXACT []
synonym: "premature ovarian failure type 12" EXACT [MONDORULE:2, OMIM:616947]
synonym: "primary ovarian failure caused by mutation in SYCE1" EXACT [MONDO:design_pattern]
synonym: "SYCE1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:934749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616947 {source="MONDO:equivalentTo"}
xref: UMLS:C4310782 {source="MEDGEN:934749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019852 {source="DC-OMIM:616947", source="OMIM:616947"} ! inherited primary ovarian failure
intersection_of: MONDO:0019852 ! inherited primary ovarian failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 ! SYCE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 {source="MONDO:mim2gene_medgen"} ! SYCE1

[Term]
id: MONDO:0014845
name: spinocerebellar ataxia, autosomal recessive 22
def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia caused by mutation in VWA3B" EXACT [MONDO:design_pattern]
synonym: "SCAR22" EXACT ABBREVIATION [OMIM:616948]
synonym: "spinocerebellar ataxia, autosomal recessive 22" EXACT [OMIM:616948]
synonym: "spinocerebellar ataxia, autosomal recessive 22; SCAR22" EXACT []
synonym: "spinocerebellar ataxia, autosomal recessive type 22" EXACT [MONDORULE:2, OMIM:616948]
synonym: "VWA3B autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111614 {source="MONDO:equivalentTo"}
xref: MEDGEN:934748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616948 {source="MONDO:equivalentTo"}
xref: UMLS:C4310781 {source="MONDO:equivalentTo", source="MEDGEN:934748", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! autosomal recessive cerebellar ataxia
intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28385 ! VWA3B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28385 {source="MONDO:mim2gene_medgen"} ! VWA3B

[Term]
id: MONDO:0014846
name: spinocerebellar ataxia, autosomal recessive 23
subset: gard_rare {source="GARD:17677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404493"}
subset: orphanet_rare {source="Orphanet:404493"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency" EXACT [Orphanet:404493]
synonym: "SCAR23" EXACT ABBREVIATION [OMIM:616949, Orphanet:404493]
synonym: "spinocerebellar ataxia autosomal recessive type 23" EXACT [Orphanet:404493]
synonym: "spinocerebellar ataxia, autosomal recessive 23" EXACT [OMIM:616949]
synonym: "spinocerebellar ataxia, autosomal recessive type 23" EXACT [MONDORULE:2, OMIM:616949]
xref: DOID:0111613 {source="MONDO:equivalentTo"}
xref: GARD:17677 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:404493", source="Orphanet:404493/attributed", source="Orphanet:404493/ntbt"}
xref: MEDGEN:1667331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616949 {source="MONDO:equivalentTo", source="Orphanet:404493", source="Orphanet:404493/e"}
xref: Orphanet:404493 {source="MONDO:equivalentTo"}
xref: UMLS:C4750914 {source="MEDGEN:1667331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018446 {source="Orphanet:404493"} ! autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17768 {source="MONDO:mim2gene_medgen"} ! TDP2

[Term]
id: MONDO:0014847
name: spermatogenic failure 15
def: "Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16173", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "azoospermia caused by mutation in SYCE1" EXACT [MONDO:design_pattern]
synonym: "spermatogenic failure 15" EXACT [OMIM:616950]
synonym: "spermatogenic failure 15; SPGF15" EXACT []
synonym: "spermatogenic failure type 15" EXACT [MONDORULE:2, OMIM:616950]
synonym: "SPGF15" EXACT ABBREVIATION [OMIM:616950]
synonym: "SYCE1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070172 {source="MONDO:equivalentTo"}
xref: GARD:16173 {source="MONDO:GARD"}
xref: MEDGEN:934746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616950 {source="MONDO:equivalentTo"}
xref: UMLS:C4310779 {source="MEDGEN:934746", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:616950", source="MONDO:Redundant", source="OMIM:616950"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28852 ! SYCE1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 ! SYCE1
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28852 {source="MONDO:mim2gene_medgen"} ! SYCE1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 {source="MONDO:mim2gene_medgen"} ! SYCE1

[Term]
id: MONDO:0014848
name: TELO2-related intellectual disability-neurodevelopmental disorder
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488642"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488642"}
subset: rare
synonym: "YHFS" RELATED ABBREVIATION [OMIM:616954]
synonym: "you-Hoover-Fong syndrome" EXACT [OMIM:616954, Orphanet:488642]
xref: GARD:17898 {source="MONDO:GARD"}
xref: MEDGEN:934745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616954 {source="Orphanet:488642", source="MONDO:equivalentTo"}
xref: Orphanet:488642 {source="MONDO:equivalentTo"}
xref: UMLS:C4310778 {source="MEDGEN:934745", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:488642", source="Orphanet:494344", source="Orphanet:495818", source="Orphanet:495875"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015160 {source="Orphanet:494439"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016908 {source="Orphanet:495818"} ! partial monosomy of the long arm of chromosome 9
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Entailed", source="MONDO:Redundant", source="Orphanet:488642", source="Orphanet:494344", source="Orphanet:495818", source="Orphanet:495875", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015368 {source="Orphanet:488642", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0015620 {source="Orphanet:495875", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic urogenital tract malformation
relationship: excluded_subClassOf MONDO:0020215 {source="Orphanet:495875", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic corneal dystrophy
relationship: excluded_subClassOf MONDO:0020240 {source="Orphanet:494439", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic retinitis pigmentosa
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29099 {source="MONDO:mim2gene_medgen"} ! TELO2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014849
name: obsolete autosomal recessive nonsyndromic deafness 105
xref: OMIM:616958 {source="DOID:0110466", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3098" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0012091

[Term]
id: MONDO:0014850
name: retinitis pigmentosa and erythrocytic microcytosis
subset: otar {source="MONDO:OTAR"}
synonym: "retinitis pigmentosa and erythrocytic microcytosis" EXACT [OMIM:616959]
synonym: "retinitis pigmentosa and erythrocytic microcytosis; RPEM" EXACT []
synonym: "RPEM" EXACT ABBREVIATION [OMIM:616959]
xref: MEDGEN:934743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616959 {source="MONDO:equivalentTo"}
xref: UMLS:C4310776 {source="MEDGEN:934743", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17341 {source="MONDO:mim2gene_medgen"} ! TRNT1

[Term]
id: MONDO:0014851
name: hypercalcemia, infantile, 2
def: "Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1" EXACT [MONDO:design_pattern]
synonym: "HCINF2" EXACT ABBREVIATION [OMIM:616963]
synonym: "hypercalcemia, infantile 2" EXACT CLINGEN_LABEL []
synonym: "hypercalcemia, infantile, 2" EXACT [OMIM:616963]
synonym: "hypercalcemia, infantile, type 2" EXACT [MONDORULE:1, OMIM:616963]
synonym: "SLC34A1 autosomal recessive infantile hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18435 {source="MONDO:GARD"}
xref: MEDGEN:934441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616963 {source="MONDO:equivalentTo"}
xref: UMLS:C4310473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934441"}
is_a: MONDO:0000212 {source="MONDO:Redundant", source="OMIM:616963", source="Orphanet:300547/btnt"} ! hypercalcemia, infantile
intersection_of: MONDO:0000212 ! hypercalcemia, infantile
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 ! SLC34A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 {source="MONDO:mim2gene_medgen"} ! SLC34A1

[Term]
id: MONDO:0014852
name: obsolete palmoplantar carcinoma, multiple self-healing
comment: OMIM merged these.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1711" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014089

[Term]
id: MONDO:0014853
name: autosomal dominant nonsyndromic hearing loss 70
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant deafness 70" NARROW [DOID:0110592]
synonym: "autosomal dominant nonsyndromic deafness 70" NARROW [OMIM:616968]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MCM2" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 70" NARROW [DOID:0110592, MONDORULE:2]
synonym: "autosomal dominant nonsyndromic hearing loss 70" EXACT CLINGEN_LABEL []
synonym: "deafness, autosomal dominant 70" NARROW [OMIM:616968, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 70" NARROW [MONDORULE:2, OMIM:616968]
synonym: "DFNA70" NARROW ABBREVIATION [DOID:0110592, OMIM:616968]
synonym: "MCM2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110592 {source="MONDO:equivalentTo"}
xref: GARD:18145 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110592"}
xref: MEDGEN:934742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616968 {source="MONDO:equivalentTo", source="DOID:0110592"}
xref: UMLS:C4310775 {source="MEDGEN:934742", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:616968", source="DOID:0110592", source="MONDO:Redundant", source="OMIM:616968"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6944 ! MCM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6944 {source="MONDO:mim2gene_medgen"} ! MCM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014854
name: autosomal dominant nonsyndromic hearing loss 66
def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18146", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant deafness 66" NARROW [DOID:0110587]
synonym: "autosomal dominant nonsyndromic deafness 66" NARROW [OMIM:616969]
synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CD164" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic deafness type 66" NARROW [DOID:0110587, MONDORULE:2]
synonym: "CD164 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deafness, autosomal dominant 66" NARROW [OMIM:616969, OMIM:genemap2]
synonym: "deafness, autosomal dominant type 66" NARROW [MONDORULE:2, OMIM:616969]
synonym: "DFNA66" NARROW ABBREVIATION [DOID:0110587, OMIM:616969]
xref: DOID:0110587 {source="MONDO:equivalentTo"}
xref: GARD:18146 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0110587"}
xref: MEDGEN:924418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616969 {source="MONDO:equivalentTo", source="DOID:0110587"}
xref: UMLS:C4283893 {source="MEDGEN:924418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DC-OMIM:616969", source="DOID:0110587", source="MONDO:Redundant", source="OMIM:616969"} ! autosomal dominant nonsyndromic hearing loss
intersection_of: MONDO:0019587 ! autosomal dominant nonsyndromic hearing loss
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1632 ! CD164
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1632 {source="MONDO:mim2gene_medgen"} ! CD164
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0014855
name: intellectual disability, autosomal dominant 42
def: "Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males." [https://clinicalgenome.org/affiliation/40006/, MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 42" EXACT [DOID:0070072]
synonym: "autosomal dominant mental retardation 42" EXACT DEPRECATED [DOID:0070072]
synonym: "autosomal dominant non-syndromic intellectual disability 42" RELATED [DOID:0070072]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1" EXACT [MONDO:design_pattern]
synonym: "GNB1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Gnb1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern]
synonym: "GNB1-related neurodevelopmental disorder" EXACT [https://clinicalgenome.org/affiliation/40006/]
synonym: "intellectual developmental disorder, autosomal dominant 42" EXACT [OMIM:616973, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 42" EXACT CLINGEN_LABEL [OMIM:616973]
synonym: "intellectual disability, autosomal dominant type 42" EXACT [MONDORULE:2, OMIM:616973]
synonym: "mental retardation, autosomal dominant 42" EXACT DEPRECATED [OMIM:616973]
synonym: "mental retardation, autosomal dominant type 42" EXACT DEPRECATED [MONDORULE:2, OMIM:616973]
synonym: "MRD42" EXACT ABBREVIATION [DOID:0070072, OMIM:616973]
xref: DOID:0070072 {source="MONDO:equivalentTo"}
xref: GARD:18501 {source="MONDO:GARD"}
xref: MEDGEN:934741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616973 {source="MONDO:equivalentTo", source="DOID:0070072"}
xref: UMLS:C4310774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934741"}
is_a: MONDO:0100172 {source="https://clinicalgenome.org/affiliation/40006/"} ! intellectual disability, autosomal dominant
intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4396 ! GNB1
relationship: excluded_subClassOf MONDO:0015802 {source="DC-OMIM:616973", source="DOID:0070072", source="OMIM:616973", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0024252 {source="Orphanet:488613", source="https://orcid.org/0000-0001-5208-3432"} ! global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4396 {source="MONDO:mim2gene_medgen"} ! GNB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6600" xsd:anyURI

[Term]
id: MONDO:0014856
name: combined oxidative phosphorylation defect type 30
def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:478042"}
subset: orphanet_rare {source="Orphanet:478042"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 30" EXACT [OMIM:616974]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in TRMT10C" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 30" EXACT [MONDORULE:2, OMIM:616974]
synonym: "COXPD30" EXACT ABBREVIATION [OMIM:616974, Orphanet:478042]
synonym: "TRMT10C combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111471 {source="MONDO:equivalentTo"}
xref: GARD:17864 {source="MONDO:GARD"}
xref: MEDGEN:1799028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616974 {source="MONDO:equivalentTo", source="Orphanet:478042"}
xref: Orphanet:478042 {source="MONDO:equivalentTo"}
xref: UMLS:C5567605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799028"}
is_a: MONDO:0000732 {source="DC-OMIM:616974", source="MONDO:Redundant", source="OMIM:616974"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26022 ! TRMT10C
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26022 {source="MONDO:mim2gene_medgen"} ! TRMT10C

[Term]
id: MONDO:0014857
name: neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
subset: gard_rare {source="GARD:17902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494344"}
subset: orphanet_rare {source="Orphanet:494344"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDBEH" EXACT ABBREVIATION [OMIM:616975]
synonym: "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" EXACT [OMIM:616975]
synonym: "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH" EXACT []
synonym: "rere-related neurodevelopmental syndrome" EXACT [Orphanet:494344]
xref: EFO:0009645 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17902 {source="MONDO:GARD"}
xref: MEDGEN:934739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616975 {source="MONDO:equivalentTo"}
xref: Orphanet:494344 {source="MONDO:equivalentTo"}
xref: UMLS:C4310772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934739"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9965 {source="MONDO:mim2gene_medgen"} ! RERE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0014858
name: intellectual disability, autosomal dominant 43
def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13179", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 43" EXACT [DOID:0070073]
synonym: "autosomal dominant intellectual disability-43" RELATED [GARD:0013179]
synonym: "autosomal dominant mental retardation 43" EXACT DEPRECATED [DOID:0070073]
synonym: "autosomal dominant non-syndromic intellectual disability 43" RELATED [DOID:0070073]
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2" EXACT [MONDO:design_pattern]
synonym: "HIVEP2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HIVEP2-related intellectual disability" RELATED [GARD:0013179]
synonym: "intellectual disability, autosomal dominant 43" EXACT CLINGEN_LABEL [OMIM:616977]
synonym: "intellectual disability, autosomal dominant type 43" EXACT [MONDORULE:2, OMIM:616977]
synonym: "mental retardation, autosomal dominant 43" EXACT DEPRECATED [OMIM:616977]
synonym: "mental retardation, autosomal dominant type 43" EXACT DEPRECATED [MONDORULE:2, OMIM:616977]
synonym: "MRD43" EXACT ABBREVIATION [DOID:0070073, OMIM:616977]
xref: DOID:0070073 {source="MONDO:equivalentTo"}
xref: GARD:13179 {source="MONDO:GARD"}
xref: MEDGEN:934738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616977 {source="MONDO:equivalentTo", source="DOID:0070073"}
xref: SCTID:765434008 {source="MONDO:equivalentTo"}
xref: UMLS:C4310771 {source="MEDGEN:934738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="DC-OMIM:616977", source="DOID:0070073", source="MONDO:Redundant", source="OMIM:616977"} ! autosomal dominant non-syndromic intellectual disability
intersection_of: MONDO:0015802 ! autosomal dominant non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4921 ! HIVEP2
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4921 {source="MONDO:mim2gene_medgen"} ! HIVEP2

[Term]
id: MONDO:0014859
name: developmental and epileptic encephalopathy, 37
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE37" EXACT ABBREVIATION [OMIM:616981]
synonym: "developmental and epileptic encephalopathy 37" EXACT [OMIM:616981, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in FRRS1L" EXACT [MONDO:design_pattern]
synonym: "EIEE37" EXACT ABBREVIATION [OMIM:616981]
synonym: "epileptic encephalopathy, early infantile, 37" EXACT [OMIM:616981]
synonym: "epileptic encephalopathy, early infantile, 37; EIEE37" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 37" EXACT [MONDORULE:2, OMIM:616981]
synonym: "FRRS1L early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080435 {source="MONDO:equivalentTo"}
xref: MEDGEN:934737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616981 {source="MONDO:equivalentTo"}
xref: UMLS:C4310770 {source="MONDO:equivalentTo", source="MEDGEN:934737", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DC-OMIM:616981", source="MONDO:Redundant", source="OMIM:616981"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1362 ! FRRS1L
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1362 {source="MONDO:mim2gene_medgen"} ! FRRS1L
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014860
name: polycystic liver disease 2
def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16174", source="MONDO:GARD"}
subset: rare
synonym: "PCLD2" EXACT ABBREVIATION [OMIM:617004]
synonym: "polycystic liver disease 2" EXACT CLINGEN_LABEL [OMIM:617004]
synonym: "polycystic liver disease 2 with or without kidney cysts" RELATED [OMIM:617004]
synonym: "polycystic liver disease 2; PCLD2" EXACT []
synonym: "polycystic liver disease type 2" EXACT [MONDORULE:1, OMIM:617004]
xref: GARD:16174 {source="MONDO:GARD"}
xref: MEDGEN:934736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617004 {source="MONDO:equivalentTo"}
xref: UMLS:C4310769 {source="MEDGEN:934736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000447 {source="MONDO:0014860/inferred", source="MONDO:Redundant", source="OMIM:617004"} ! autosomal dominant polycystic liver disease
relationship: excluded_subClassOf MONDO:0008265 {source="Orphanet:2924/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! polycystic liver disease 1
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:617004"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21082 {source="MONDO:mim2gene_medgen", source="PMID:29038287", source="https://github.com/monarch-initiative/mondo/issues/1882"} ! SEC63

[Term]
id: MONDO:0014861
name: autoimmune disease, multisystem, infantile-onset, 2
def: "Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADMIO2" EXACT ABBREVIATION [OMIM:617006]
synonym: "autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70" EXACT [MONDO:design_pattern]
synonym: "autoimmune disease, multisystem, infantile-onset, 2" EXACT [OMIM:617006]
synonym: "autoimmune disease, multisystem, infantile-onset, 2; ADMIO2" EXACT []
synonym: "autoimmune disease, multisystem, infantile-onset, type 2" EXACT [MONDORULE:1, OMIM:617006]
synonym: "ZAP70 autoimmune disease, multisystem, infantile-onset" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:934735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617006 {source="MONDO:equivalentTo"}
xref: UMLS:C4310768 {source="MEDGEN:934735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000213 {source="DC-OMIM:617006", source="MONDO:Redundant", source="OMIM:617006"} ! autoimmune disease, multisystem, infantile-onset
intersection_of: MONDO:0000213 ! autoimmune disease, multisystem, infantile-onset
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12858 ! ZAP70
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12858 {source="MONDO:mim2gene_medgen"} ! ZAP70

[Term]
id: MONDO:0014862
name: cerebral palsy, spastic quadriplegic, 3
def: "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18310", source="MONDO:GARD"}
subset: rare
synonym: "ADD3 spastic quadriplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "cerebral palsy, spastic quadriplegic, 3" EXACT [OMIM:617008]
synonym: "cerebral palsy, spastic quadriplegic, 3; CPSQ3" EXACT []
synonym: "cerebral palsy, spastic quadriplegic, type 3" EXACT [MONDORULE:1, OMIM:617008]
synonym: "CPSQ3" EXACT ABBREVIATION [OMIM:617008]
synonym: "spastic quadriplegia caused by mutation in ADD3" EXACT [MONDO:design_pattern]
xref: DOID:0081361 {source="MONDO:equivalentTo"}
xref: GARD:18310 {source="MONDO:GARD"}
xref: MEDGEN:934734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617008 {source="MONDO:equivalentTo"}
xref: UMLS:C4310767 {source="MEDGEN:934734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016215 {source="DC-OMIM:617008", source="MONDO:Redundant", source="OMIM:617008"} ! spastic quadriplegic cerebral palsy
is_a: MONDO:0100516 {source="https://www.clinicalgenome.org/affiliation/40113/"} ! complex neurodevelopmental disorder with motor features
intersection_of: MONDO:0016215 ! spastic quadriplegic cerebral palsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/245 ! ADD3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/245 {source="MONDO:mim2gene_medgen"} ! ADD3

[Term]
id: MONDO:0014863
name: macrocephaly, dysmorphic facies, and psychomotor retardation
subset: otar {source="MONDO:OTAR"}
synonym: "macrocephaly, dysmorphic facies, and psychomotor retardation" EXACT [OMIM:617011]
synonym: "macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR" EXACT []
synonym: "MDFPMR" EXACT ABBREVIATION [OMIM:617011]
xref: MEDGEN:934733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617011 {source="MONDO:equivalentTo"}
xref: UMLS:C4310766 {source="MEDGEN:934733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4867 {source="MONDO:mim2gene_medgen"} ! HERC1

[Term]
id: MONDO:0014864
name: hypermanganesemia with dystonia 2
def: "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17958", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521406"}
subset: orphanet_rare {source="Orphanet:521406"}
subset: rare
synonym: "HMNDYT2" EXACT ABBREVIATION [OMIM:617013]
synonym: "hypermanganesemia with dystonia 2" EXACT [OMIM:617013]
synonym: "hypermanganesemia with dystonia 2; HMNDYT2" EXACT []
synonym: "hypermanganesemia with dystonia caused by mutation in SLC39A14" EXACT [MONDO:design_pattern]
synonym: "hypermanganesemia with dystonia type 2" EXACT [MONDORULE:1, OMIM:617013]
synonym: "SLC39A14 hypermanganesemia with dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080537 {source="MONDO:equivalentTo"}
xref: GARD:17958 {source="MONDO:GARD"}
xref: MEDGEN:934732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617013 {source="MONDO:equivalentTo", source="Orphanet:521406"}
xref: Orphanet:521406 {source="MONDO:equivalentTo"}
xref: SCTID:768554008 {source="MONDO:equivalentTo"}
xref: UMLS:C4310765 {source="MEDGEN:934732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000214 {source="DC-OMIM:617013", source="MONDO:Redundant", source="OMIM:617013"} ! hypermanganesemia with dystonia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0017766 {source="Orphanet:521406"} ! disorder of manganese transport
intersection_of: MONDO:0000214 ! hypermanganesemia with dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20858 ! SLC39A14
relationship: has_characteristic HP:0000007 {source="Orphanet:521406"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20858 {source="MONDO:mim2gene_medgen", source="Orphanet:521406"} ! SLC39A14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0014865
name: autosomal recessive severe congenital neutropenia due to CSF3R deficiency
subset: gard_rare {source="GARD:17698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420702"}
subset: orphanet_rare {source="Orphanet:420702"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutropenia, Severe congenital, 7, autosomal recessive" EXACT [OMIM:617014]
synonym: "neutropenia, severe congenital, 7, autosomal recessive" RELATED [OMIM:617014]
synonym: "SCN7" RELATED ABBREVIATION [OMIM:617014]
xref: DOID:0112129 {source="MONDO:equivalentTo"}
xref: GARD:17698 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:420702", source="Orphanet:420702/attributed", source="Orphanet:420702/ntbt"}
xref: MEDGEN:934731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617014 {source="MONDO:equivalentTo", source="Orphanet:420702", source="Orphanet:420702/e"}
xref: Orphanet:420702 {source="MONDO:equivalentTo"}
xref: UMLS:C4310764 {source="MEDGEN:934731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018542 {source="DC-OMIM:617014", source="OMIM:617014", source="Orphanet:420702", source="Orphanet:420702/inferred"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2439 ! CSF3R
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2439 {source="MONDO:mim2gene_medgen"} ! CSF3R

[Term]
id: MONDO:0014866
name: Charcot-Marie-Tooth disease axonal type 2T
def: "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." [DOID:0110160, PMID:26991897]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443950"}
subset: orphanet_rare {source="Orphanet:443950"}
subset: rare
synonym: "AR-CMT2T" RELATED [DOID:0110160]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" RELATED [DOID:0110160]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T" RELATED [OMIM:617017]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2T" EXACT [OMIM:617017]
synonym: "Charcot-Marie-Tooth neuropathy type 2T" EXACT [DOID:0110160]
synonym: "Charcot-Marie-Tooth neuropathy, type 2T" RELATED [OMIM:617017]
synonym: "CMT2T" EXACT ABBREVIATION [DOID:0110160, OMIM:617017, Orphanet:443950]
synonym: "DNAJB2-related Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:443950]
synonym: "DNAJB2-related CMT2" EXACT [Orphanet:443950]
xref: DOID:0110160 {source="MONDO:equivalentTo"}
xref: GARD:18653 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:443950", source="Orphanet:443950/attributed", source="Orphanet:443950/ntbt", source="DOID:0110160"}
xref: MEDGEN:864072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616233 {source="Orphanet:443950/nd", source="Orphanet:443950", source="MONDO:equivalentObsolete"}
xref: OMIM:617017 {source="Orphanet:443950", source="Orphanet:443950/btnt", source="MONDO:equivalentTo", source="DOID:0110160"}
xref: Orphanet:443950 {source="MONDO:equivalentTo", source="DOID:0110160"}
xref: UMLS:C4015635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864072"}
is_a: MONDO:0015626 {source="DOID:0110160/inferred", source="MONDO:Redundant", source="OMIM:617017", source="Orphanet:443950/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110160"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5228 ! DNAJB2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 ! MME

[Term]
id: MONDO:0014867
name: spinocerebellar ataxia 43
def: "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor." [Orphanet:497764]
subset: gard_rare {source="GARD:17917", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:497764"}
subset: orphanet_rare {source="Orphanet:497764"}
subset: rare
synonym: "autosomal dominant cerebellar ataxia caused by mutation in MME" EXACT [MONDO:design_pattern]
synonym: "MME autosomal dominant cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCA43" EXACT ABBREVIATION [OMIM:617018]
synonym: "spinocerebellar ataxia 43" EXACT [OMIM:617018]
synonym: "spinocerebellar ataxia 43; SCA43" EXACT []
synonym: "spinocerebellar ataxia type 43" EXACT [MONDORULE:2, OMIM:617018]
xref: DOID:0111745 {source="MONDO:equivalentTo"}
xref: GARD:17917 {source="MONDO:GARD"}
xref: MEDGEN:934730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617018 {source="MONDO:equivalentTo"}
xref: Orphanet:497764 {source="MONDO:equivalentTo"}
xref: UMLS:C4310763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934730"}
is_a: MONDO:0020380 {source="DC-OMIM:617018", source="EFO:0009060/inferred", source="MONDO:Redundant", source="OMIM:617018", source="Orphanet:497764/inferred"} ! autosomal dominant cerebellar ataxia
intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 ! MME
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 {source="MONDO:mim2gene_medgen"} ! MME

[Term]
id: MONDO:0014868
name: developmental and epileptic encephalopathy, 38
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARV1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DEE38" EXACT ABBREVIATION [OMIM:617020]
synonym: "developmental and epileptic encephalopathy 38" EXACT [OMIM:617020, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in ARV1" EXACT [MONDO:design_pattern]
synonym: "EIEE38" EXACT ABBREVIATION [OMIM:617020]
synonym: "epileptic encephalopathy, early infantile, 38" EXACT [OMIM:617020]
synonym: "epileptic encephalopathy, early infantile, 38; EIEE38" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 38" EXACT [MONDORULE:2, OMIM:617020]
xref: DOID:0080417 {source="MONDO:equivalentTo"}
xref: GARD:16175 {source="MONDO:GARD"}
xref: MEDGEN:934729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617020 {source="MONDO:equivalentTo"}
xref: UMLS:C4310762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934729"}
is_a: MONDO:0100062 {source="DC-OMIM:617020", source="MONDO:Redundant", source="OMIM:617020"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29561 ! ARV1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29561 {source="MONDO:mim2gene_medgen"} ! ARV1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014869
name: hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
subset: gard_rare {source="GARD:17966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:528091"}
subset: orphanet_rare {source="Orphanet:528091"}
subset: rare
synonym: "HLASA" EXACT ABBREVIATION [OMIM:617021]
synonym: "hydrops, lactic acidosis, and sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "hydrops, lactic acidosis, and sideroblastic anemia" EXACT [OMIM:617021]
xref: GARD:17966 {source="MONDO:GARD"}
xref: MEDGEN:934728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617021 {source="MONDO:equivalentTo", source="Orphanet:528091"}
xref: Orphanet:528091 {source="MONDO:equivalentTo"}
xref: UMLS:C4310761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934728"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17095 {source="MONDO:mim2gene_medgen"} ! LARS2

[Term]
id: MONDO:0014870
name: NEK9-related lethal skeletal dysplasia
def: "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated." [Orphanet:464366]
subset: gard_rare {source="GARD:17818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464366"}
subset: ordo_malformation_syndrome {source="Orphanet:464366"}
subset: orphanet_rare {source="Orphanet:464366"}
subset: rare
synonym: "LCCS10" EXACT ABBREVIATION [OMIM:617022]
synonym: "lethal congenital contracture syndrome 10" EXACT [OMIM:617022]
synonym: "lethal congenital contracture syndrome type 10" EXACT [MONDORULE:2, OMIM:617022]
synonym: "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome" EXACT [Orphanet:464366]
xref: GARD:17818 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:464366", source="Orphanet:464366/attributed", source="Orphanet:464366/ntbt"}
xref: MEDGEN:1799564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617022 {source="Orphanet:464366", source="MONDO:equivalentTo", source="Orphanet:464366/e"}
xref: Orphanet:464366 {source="MONDO:equivalentTo"}
xref: UMLS:C5568141 {source="MONDO:equivalentTo", source="MEDGEN:1799564", source="MONDO:MEDGEN"}
is_a: MONDO:0015929 {source="Orphanet:464366"} ! thoracic malformation
is_a: MONDO:0017436 {source="DC-OMIM:617022", source="OMIM:617022"} ! lethal congenital contracture syndrome
is_a: MONDO:0019691 {source="Orphanet:464366"} ! short rib dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18591 {source="MONDO:mim2gene_medgen"} ! NEK9

[Term]
id: MONDO:0014871
name: retinitis pigmentosa 75
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGBL5 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 75" EXACT [OMIM:617023]
synonym: "retinitis pigmentosa caused by mutation in AGBL5" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 75" EXACT [DOID:0110361, MONDORULE:2, OMIM:617023]
synonym: "RP75" EXACT ABBREVIATION [DOID:0110361, OMIM:617023]
xref: DOID:0110361 {source="MONDO:equivalentTo"}
xref: GARD:16176 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110361"}
xref: MEDGEN:934726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617023 {source="MONDO:equivalentTo", source="DOID:0110361"}
xref: UMLS:C4310759 {source="MONDO:equivalentTo", source="MEDGEN:934726", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="DC-OMIM:617023", source="DOID:0110361", source="MONDO:Redundant", source="OMIM:617023"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26147 ! AGBL5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26147 {source="MONDO:mim2gene_medgen"} ! AGBL5

[Term]
id: MONDO:0014872
name: congenital stationary night blindness 1H
def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16177", source="MONDO:GARD"}
subset: rare
synonym: "congenital stationary night blindness caused by mutation in GNB3" EXACT [MONDO:design_pattern]
synonym: "congenital stationary night blindness type 1H" EXACT [DOID:0110866, MONDORULE:4]
synonym: "CSNB1H" EXACT ABBREVIATION [DOID:0110866, OMIM:617024]
synonym: "GNB3 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "night blindness, congenital stationary, type 1H" EXACT [OMIM:617024]
xref: DOID:0110866 {source="MONDO:equivalentTo"}
xref: GARD:16177 {source="MONDO:GARD"}
xref: MEDGEN:934725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617024 {source="DOID:0110866", source="MONDO:equivalentTo"}
xref: UMLS:C4310758 {source="MEDGEN:934725", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016293 {source="DC-OMIM:617024", source="DOID:0110866", source="MONDO:Redundant", source="OMIM:617024"} ! congenital stationary night blindness
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4400 ! GNB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4400 {source="MONDO:mim2gene_medgen"} ! GNB3

[Term]
id: MONDO:0014873
name: nevus comedonicus syndrome
def: "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood." [NCIT:C3946]
subset: gard_rare {source="GARD:13073", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64754"}
subset: orphanet_rare {source="Orphanet:64754"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acne Nevus" EXACT [NCIT:C3946]
synonym: "acneiform Nevus" EXACT [NCIT:C3946]
synonym: "comedo Nevus" EXACT [NCIT:C3946]
synonym: "NC" RELATED ABBREVIATION [OMIM:617025]
synonym: "NEVUS comedonicus" RELATED [OMIM:617025]
synonym: "Nevus comedonicus" EXACT [OMIM:617025]
synonym: "nevus comedonicus, somatic" EXACT [OMIM:617025, OMIM:genemap2]
synonym: "pilosebaceous nevoid disorder" EXACT [NCIT:C3946]
xref: GARD:13073 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:64754/ntbt", source="Orphanet:64754", source="Orphanet:64754/index"}
xref: MEDGEN:75592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3946 {source="MONDO:equivalentTo"}
xref: OMIM:617025 {source="Orphanet:64754", source="MONDO:equivalentTo", source="Orphanet:64754/e"}
xref: Orphanet:64754 {source="MONDO:equivalentTo"}
xref: SCTID:35962006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75592"}
is_a: MONDO:0005073 {source="Orphanet:64754"} ! melanocytic nevus
is_a: MONDO:0100118 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18591 {source="MONDO:mim2gene_medgen"} ! NEK9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0014874
name: pontocerebellar hypoplasia, type 2F
def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15" EXACT [MONDO:design_pattern]
synonym: "PCH2F" EXACT ABBREVIATION [OMIM:617026]
synonym: "pontocerebellar hypoplasia, type 2F" EXACT [OMIM:617026]
synonym: "pontocerebellar hypoplasia, type 2F; PCH2F" EXACT []
synonym: "TSEN15 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0112329 {source="MONDO:equivalentTo"}
xref: GARD:16178 {source="MONDO:GARD"}
xref: MEDGEN:934724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617026 {source="MONDO:equivalentTo"}
xref: UMLS:C4310757 {source="MEDGEN:934724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2
is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:617026"} ! pontocerebellar hypoplasia
intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16791 ! TSEN15
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16791 {source="MONDO:mim2gene_medgen"} ! TSEN15

[Term]
id: MONDO:0014875
name: hyperaldosteronism, familial, type IV
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:642671"}
subset: orphanet_rare {source="Orphanet:642671"}
subset: rare
synonym: "aldosteronism, primary, and hypertension" RELATED [OMIM:617027]
synonym: "familial hyperaldosteronism type IV" EXACT [Orphanet:642671]
synonym: "FH 4" RELATED [OMIM:617027]
synonym: "HALD4" EXACT ABBREVIATION [OMIM:617027]
synonym: "hyperaldosteronism, familial, type 4" RELATED [OMIM:617027]
synonym: "hyperaldosteronism, familial, type IV" EXACT [OMIM:617027]
synonym: "hyperaldosteronism, familial, type IV; HALD4" EXACT []
xref: MEDGEN:934723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617027 {source="MONDO:equivalentTo"}
xref: Orphanet:642671 {source="MONDO:equivalentTo"}
xref: UMLS:C4310756 {source="MEDGEN:934723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016525 {source="OMIM:617027"} ! familial hyperaldosteronism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1395 {source="MONDO:mim2gene_medgen"} ! CACNA1H

[Term]
id: MONDO:0014876
name: intellectual disability, autosomal recessive 54
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK" EXACT [MONDO:design_pattern]
synonym: "intellectual developmental disorder 54" EXACT [OMIM:617028, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 54" EXACT [OMIM:617028]
synonym: "intellectual disability, autosomal recessive type 54" EXACT [MONDORULE:2, OMIM:617028]
synonym: "mental retardation, autosomal recessive 54" EXACT DEPRECATED [OMIM:617028]
synonym: "mental retardation, autosomal recessive type 54" EXACT DEPRECATED [MONDORULE:2, OMIM:617028]
synonym: "MRT54" EXACT ABBREVIATION [OMIM:617028]
synonym: "TNIK autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081216 {source="MONDO:equivalentTo"}
xref: GARD:22573 {source="MONDO:GARD"}
xref: MEDGEN:934722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617028 {source="MONDO:equivalentTo"}
xref: UMLS:C4310755 {source="MEDGEN:934722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DC-OMIM:617028", source="MONDO:Redundant", source="OMIM:617028"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30765 ! TNIK
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30765 {source="MONDO:mim2gene_medgen"} ! TNIK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014877
name: myopathy, distal, 5
def: "Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17878", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:482601"}
subset: orphanet_rare {source="Orphanet:482601"}
subset: rare
synonym: "adenylosuccinate synthetase-like 1-related distal myopathy" EXACT [MONDO:0018834]
synonym: "ADSSL1 distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ADSSL1-related distal myopathy" EXACT [Orphanet:482601]
synonym: "distal myopathy caused by mutation in ADSSL1" EXACT [MONDO:design_pattern]
synonym: "MPD5" EXACT ABBREVIATION [OMIM:617030]
synonym: "myopathy, distal, 5; MPD5" EXACT []
synonym: "myopathy, distal, type 5" EXACT [MONDORULE:1, OMIM:617030]
xref: GARD:17878 {source="MONDO:GARD"}
xref: MEDGEN:1798944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617030 {source="MONDO:equivalentTo"}
xref: Orphanet:482601 {source="MONDO:equivalentTo"}
xref: UMLS:C5567521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798944"}
is_a: MONDO:0018949 {source="DC-OMIM:617030", source="MONDO:Redundant"} ! distal myopathy
intersection_of: MONDO:0018949 ! distal myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20093 ! ADSS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20093 {source="MONDO:mim2gene_medgen"} ! ADSS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5762" xsd:anyURI

[Term]
id: MONDO:0014878
name: patent ductus arteriosus 2
subset: gard_rare {source="GARD:18489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "patent ductus arteriosus 2" EXACT [OMIM:617035]
synonym: "patent ductus arteriosus 2; PDA2" EXACT []
synonym: "patent ductus arteriosus type 2" EXACT [MONDORULE:1, OMIM:617035]
synonym: "PDA2" EXACT ABBREVIATION [OMIM:617035]
xref: GARD:18489 {source="MONDO:GARD"}
xref: MEDGEN:924886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617035 {source="MONDO:equivalentTo"}
xref: UMLS:C4284595 {source="MEDGEN:924886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011827 {source="DC-OMIM:617035", source="OMIM:617035"} ! patent ductus arteriosus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11743 {source="MONDO:mim2gene_medgen"} ! TFAP2B

[Term]
id: MONDO:0014879
name: obsolete patent ductus arteriosus 3
is_obsolete: true
consider: MONDO:0024266

[Term]
id: MONDO:0014880
name: Duane retraction syndrome 3 with or without deafness
def: "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion." [GARD:0010691]
subset: gard_rare {source="GARD:10691", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Duane retraction syndrome 3" RELATED [GARD:0010691]
synonym: "Duane retraction syndrome 3 with or without deafness" EXACT [OMIM:617041]
synonym: "Duane retraction syndrome caused by mutation in MAFB" EXACT [MONDO:design_pattern]
synonym: "Duane syndrome type 3" RELATED [GARD:0010691]
synonym: "DURS3" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165, OMIM:617041]
synonym: "MAFB Duane retraction syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:10691 {source="MONDO:GARD"}
xref: MEDGEN:934719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617041 {source="MONDO:equivalentTo"}
xref: Orphanet:233 {source="GARD:0010691"}
xref: UMLS:C4310752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934719"}
is_a: MONDO:0007473 {source="MONDO:Redundant", source="OMIM:617041", source="Orphanet:233/btnt"} ! Duane retraction syndrome
intersection_of: MONDO:0007473 ! Duane retraction syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6408 ! MAFB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6408 {source="MONDO:mim2gene_medgen"} ! MAFB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10691/duane-syndrome-type-3" xsd:anyURI {source="GARD:0010691"}

[Term]
id: MONDO:0014881
name: transketolase deficiency
subset: gard_rare {source="GARD:17894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488618"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488618"}
subset: rare
synonym: "SDDHD" RELATED ABBREVIATION [OMIM:617044]
synonym: "short stature, developmental delay, and congenital heart defects" RELATED [OMIM:617044]
synonym: "short stature-developmental delay-congenital heart defect syndrome" EXACT [Orphanet:488618]
synonym: "TKT deficiency" EXACT [Orphanet:488618]
xref: GARD:17894 {source="MONDO:GARD"}
xref: MEDGEN:1814561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617044 {source="MONDO:equivalentTo", source="Orphanet:488618"}
xref: Orphanet:488618 {source="MONDO:equivalentTo"}
xref: UMLS:C5700245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814561"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015159 {source="Orphanet:488618"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019231 {source="Orphanet:488618", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488618", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11834 {source="MONDO:mim2gene_medgen"} ! TKT
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014882
name: hereditary spastic paraplegia 77
def: "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated." [Orphanet:466722]
subset: gard_rare {source="GARD:17827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466722"}
subset: orphanet_rare {source="Orphanet:466722"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia 77" EXACT [DOID:0110822]
synonym: "autosomal recessive spastic paraplegia type 77" RELATED [Orphanet:466722]
synonym: "FARS2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia caused by mutation in FARS2" EXACT [MONDO:design_pattern]
synonym: "hereditary spastic paraplegia type 77" EXACT [DOID:0110822, MONDORULE:2]
synonym: "spastic paraplegia 77, autosomal recessive" EXACT [OMIM:617046]
synonym: "SPG77" EXACT ABBREVIATION [DOID:0110822, OMIM:617046, Orphanet:466722]
xref: DOID:0110822 {source="MONDO:equivalentTo"}
xref: GARD:17827 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:466722/attributed", source="Orphanet:466722/ntbt", source="DOID:0110822", source="Orphanet:466722"}
xref: MEDGEN:1800430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617046 {source="DOID:0110822", source="Orphanet:466722", source="MONDO:equivalentTo"}
xref: Orphanet:466722 {source="DOID:0110822", source="MONDO:equivalentTo"}
xref: UMLS:C5569007 {source="MEDGEN:1800430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019064 {source="DC-OMIM:617046", source="DOID:0110822", source="MONDO:Redundant", source="OMIM:617046"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 ! FARS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 {source="MONDO:mim2gene_medgen"} ! FARS2

[Term]
id: MONDO:0014883
name: hypertrophic cardiomyopathy 26
def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy familial hypertrophic 26" EXACT [DOID:0110327]
synonym: "cardiomyopathy, familial hypertrophic, 26" EXACT [OMIM:617047]
synonym: "cardiomyopathy, familial hypertrophic, type 26" EXACT [MONDORULE:2, OMIM:617047]
synonym: "cardiomyopathy, familial restrictive 5" EXACT [OMIM:617047, OMIM:genemap2]
synonym: "cardiomyopathy, familial restrictive, 5" RELATED [OMIM:617047]
synonym: "CMH26" EXACT ABBREVIATION [DOID:0110327, OMIM:617047]
synonym: "FLNC hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypertrophic cardiomyopathy caused by mutation in FLNC" EXACT [MONDO:design_pattern]
synonym: "hypertrophic cardiomyopathy type 26" EXACT [DOID:0110327, MONDORULE:2]
xref: DOID:0110327 {source="MONDO:equivalentTo"}
xref: MEDGEN:934716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617047 {source="DOID:0110327", source="MONDO:equivalentTo"}
xref: UMLS:C4310749 {source="MEDGEN:934716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="DC-OMIM:617047", source="DOID:0110327", source="MONDO:Redundant", source="MONDO:indirect"} ! hypertrophic cardiomyopathy
is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:617047"} ! familial hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 ! FLNC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 {source="MONDO:mim2gene_medgen"} ! FLNC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014884
name: cholestasis, progressive familial intrahepatic, 5
alt_id: MONDO:0018802
def: "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:480476"}
subset: rare
synonym: "cholestasis, progressive familial intrahepatic, 5" EXACT [OMIM:617049]
synonym: "cholestasis, progressive familial intrahepatic, 5; PFIC5" EXACT []
synonym: "cholestasis, progressive familial intrahepatic, type 5" EXACT [MONDORULE:1, OMIM:617049]
synonym: "NR1H4 deficiency" EXACT [Orphanet:480476]
synonym: "NR1H4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PFIC5" EXACT ABBREVIATION [OMIM:617049, Orphanet:480476]
synonym: "progressive familial intrahepatic cholestasis caused by mutation in NR1H4" EXACT [MONDO:design_pattern]
xref: DOID:0070225 {source="MONDO:equivalentTo"}
xref: GARD:17867 {source="MONDO:GARD"}
xref: MEDGEN:934714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201047 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:617049 {source="MONDO:equivalentTo"}
xref: Orphanet:480476 {source="MONDO:equivalentTo"}
xref: UMLS:C4310747 {source="MEDGEN:934714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001751 {source="DC-OMIM:617049", source="MONDO:Redundant", source="MONDO:indirect"} ! cholestasis
is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:617049", source="Orphanet:480476"} ! progressive familial intrahepatic cholestasis
intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7967 ! NR1H4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7967 {source="MONDO:mim2gene_medgen"} ! NR1H4

[Term]
id: MONDO:0014885
name: Hermansky-Pudlak syndrome 10
def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16180", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:664511"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AP3D1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Hermansky-Pudlak syndrome 10" EXACT CLINGEN_LABEL [OMIM:617050]
synonym: "Hermansky-Pudlak syndrome 10; HPS10" EXACT []
synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3D1" EXACT [MONDO:design_pattern]
synonym: "Hermansky-Pudlak syndrome type 10" EXACT [MONDORULE:2, OMIM:617050]
synonym: "HPS10" EXACT ABBREVIATION [OMIM:617050]
xref: GARD:16180 {source="MONDO:GARD"}
xref: MEDGEN:934713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617050 {source="MONDO:equivalentTo"}
xref: Orphanet:664511 {source="MONDO:equivalentTo"}
xref: UMLS:C4310746 {source="MEDGEN:934713", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019312 {source="DC-OMIM:617050", source="MONDO:Redundant", source="OMIM:617050"} ! Hermansky-Pudlak syndrome
intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/568 ! AP3D1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/568 {source="MONDO:mim2gene_medgen"} ! AP3D1

[Term]
id: MONDO:0014886
name: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
subset: gard_rare {source="GARD:17895", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488627"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488627"}
subset: rare
synonym: "intellectual disability, autosomal recessive 55" EXACT [OMIM:617051]
synonym: "intellectual disability, autosomal recessive type 55" EXACT [MONDORULE:2, OMIM:617051]
synonym: "mental retardation, autosomal recessive 55" EXACT DEPRECATED [OMIM:617051]
synonym: "mental retardation, autosomal recessive type 55" EXACT DEPRECATED [MONDORULE:2, OMIM:617051]
synonym: "MRT55" EXACT ABBREVIATION [OMIM:617051]
synonym: "neurodevelopmental disorder with microcephaly and gray sclerae" EXACT [OMIM:617051, OMIM:genemap2]
synonym: "neurodevelopmental disorder with microcephaly and grey sclerae" EXACT OMO:0003005 []
xref: GARD:17895 {source="MONDO:GARD"}
xref: MEDGEN:934712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617051 {source="MONDO:equivalentTo", source="Orphanet:488627"}
xref: Orphanet:488627 {source="MONDO:equivalentTo"}
xref: UMLS:C4310745 {source="MEDGEN:934712", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:488627"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019289 {source="Orphanet:488627"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488627", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019502 {source="DC-OMIM:617051", source="OMIM:617051", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive non-syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25461 {source="MONDO:mim2gene_medgen"} ! PUS3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014887
name: bone marrow failure syndrome 3
def: "Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BMFS3" EXACT ABBREVIATION [OMIM:617052]
synonym: "bone marrow failure syndrome 3" EXACT [OMIM:617052]
synonym: "bone marrow failure syndrome caused by mutation in DNAJC21" EXACT [MONDO:design_pattern]
synonym: "bone marrow failure syndrome type 3" EXACT [MONDORULE:1, OMIM:617052]
synonym: "DNAJC21 bone marrow failure syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:934711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617052 {source="MONDO:equivalentTo"}
xref: UMLS:C4310744 {source="MEDGEN:934711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000159 {source="DC-OMIM:617052", source="MONDO:Redundant", source="OMIM:617052"} ! bone marrow failure syndrome
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000159 ! bone marrow failure syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27030 ! DNAJC21
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27030 {source="MONDO:mim2gene_medgen"} ! DNAJC21

[Term]
id: MONDO:0014888
name: MIRAGE syndrome
def: "An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy." [NCIT:C147530]
subset: gard_rare {source="GARD:13108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494433"}
subset: orphanet_rare {source="Orphanet:494433"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mirage" EXACT [OMIM:617053]
synonym: "mirage syndrome" EXACT [NCIT:C147530, OMIM:617053]
synonym: "myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy" EXACT [GARD:0013108, NCIT:C147530, OMIM:617053]
synonym: "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" EXACT [Orphanet:494433]
synonym: "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" EXACT [Orphanet:494433]
xref: GARD:13108 {source="MONDO:GARD"}
xref: MEDGEN:924576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C147530 {source="MONDO:equivalentTo"}
xref: OMIM:617053 {source="MONDO:equivalentTo"}
xref: Orphanet:494433 {source="MONDO:equivalentTo"}
xref: UMLS:C4284088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924576"}
is_a: MONDO:0002254 {source="NCIT:C147530"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1348 {source="MONDO:mim2gene_medgen"} ! SAMD9

[Term]
id: MONDO:0014889
name: striatonigral degeneration, childhood-onset
subset: gard_rare {source="GARD:17918", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:497906"}
subset: orphanet_rare {source="Orphanet:497906"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood-onset basal ganglia degeneration syndrome" EXACT [Orphanet:497906]
synonym: "Lenk-Ploski syndrome" EXACT [Orphanet:497906]
synonym: "SNDC" EXACT ABBREVIATION [OMIM:617054]
synonym: "striatonigral Degeneration, childhood-onset" EXACT [OMIM:617054]
synonym: "striatonigral degeneration, childhood-onset; SNDC" EXACT []
xref: GARD:17918 {source="MONDO:GARD"}
xref: MEDGEN:934710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617054 {source="MONDO:equivalentTo", source="Orphanet:497906"}
xref: Orphanet:497906 {source="MONDO:equivalentTo"}
xref: UMLS:C4310743 {source="MEDGEN:934710", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003122 {source="OMIM:617054"} ! striatonigral degeneration
is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005559 {source="Orphanet:497906"} ! neurodegenerative disease
is_a: MONDO:0024237 {source="Orphanet:497906"} ! inherited neurodegenerative disorder
is_a: MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25507 {source="MONDO:mim2gene_medgen"} ! VAC14

[Term]
id: MONDO:0014890
name: PERCHING syndrome
def: "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18278", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:603684"}
subset: orphanet_rare {source="Orphanet:603684"}
subset: rare
synonym: "CISS3" EXACT ABBREVIATION [OMIM:617055]
synonym: "cold-induced sweating syndrome 3" EXACT [OMIM:617055]
synonym: "cold-induced sweating syndrome caused by mutation in KLHL7" EXACT [MONDO:design_pattern]
synonym: "cold-induced sweating syndrome type 3" EXACT [MONDORULE:1, OMIM:617055]
synonym: "CRISPONI/cold-induced sweating syndrome 3" RELATED [OMIM:617055]
synonym: "Crisponi/cold-induced sweating syndrome 3" RELATED [OMIM:617055]
synonym: "KLHL7 cold-induced sweating syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome" EXACT [Orphanet:603684]
synonym: "PERCHING" EXACT ABBREVIATION [OMIM:617055]
synonym: "Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities" EXACT [OMIM:617055]
xref: DOID:0080331 {source="MONDO:equivalentTo"}
xref: GARD:18278 {source="MONDO:GARD"}
xref: MEDGEN:934709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617055 {source="DOID:0080331", source="MONDO:equivalentTo"}
xref: Orphanet:603684 {source="MONDO:equivalentTo"}
xref: UMLS:C4310742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934709"}
is_a: MONDO:0015526 {source="DC-OMIM:617055", source="DOID:0080331", source="MONDO:Redundant", source="OMIM:617055"} ! cold-induced sweating syndrome
intersection_of: MONDO:0015526 ! cold-induced sweating syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 ! KLHL7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 {source="MONDO:mim2gene_medgen"} ! KLHL7

[Term]
id: MONDO:0014891
name: hyperuricemic nephropathy, familial juvenile type 4
def: "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "ADTKD-SEC61A1" EXACT [https://www.clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/]
synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1" EXACT [MONDO:design_pattern]
synonym: "HNFJ4" EXACT ABBREVIATION [OMIM:617056]
synonym: "hyperuricemic NEPHROPATHY, familial juvenile, 4" RELATED [OMIM:617056]
synonym: "hyperuricemic nephropathy, familial juvenile, 4" EXACT [OMIM:617056]
synonym: "hyperuricemic nephropathy, familial juvenile, type 4" EXACT [MONDORULE:1, OMIM:617056]
synonym: "SEC61A1 familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SEC61A1-related autosomal dominant tubulointerstitial kidney disease" EXACT [https://www.clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/]
synonym: "tubulointerstitial kidney disease, autosomal dominant, 5" EXACT [OMIM:617056, OMIM:genemap2]
xref: MEDGEN:934708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617056 {source="MONDO:equivalentTo"}
xref: UMLS:C4310741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934708"}
is_a: MONDO:0000608 {source="DC-OMIM:617056", source="MONDO:Redundant", source="OMIM:617056"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000608 ! familial juvenile hyperuricemic nephropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 ! SEC61A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 {source="MONDO:mim2gene_medgen"} ! SEC61A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014892
name: micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
subset: gard_rare {source="GARD:17850", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:476126"}
subset: ordo_malformation_syndrome {source="Orphanet:476126"}
subset: orphanet_rare {source="Orphanet:476126"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 44" EXACT [DOID:0070074]
synonym: "autosomal dominant mental retardation 44" EXACT DEPRECATED [DOID:0070074]
synonym: "autosomal dominant non-syndromic intellectual disability 44" RELATED [DOID:0070074]
synonym: "intellectual developmental disorder, autosomal dominant 44, with microcephaly" EXACT [OMIM:617061, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 44" RELATED [OMIM:617061]
synonym: "MEBAS" EXACT ABBREVIATION [OMIM:617061]
synonym: "mental retardation, autosomal dominant 44" RELATED DEPRECATED [OMIM:617061]
synonym: "mercer-Ba syndrome" EXACT [OMIM:617061]
synonym: "MRD44" EXACT ABBREVIATION [DOID:0070074, OMIM:617061]
xref: DOID:0070074 {source="MONDO:equivalentTo"}
xref: GARD:17850 {source="MONDO:GARD"}
xref: MEDGEN:934707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617061 {source="Orphanet:476126", source="MONDO:equivalentTo", source="DOID:0070074"}
xref: Orphanet:476126 {source="MONDO:equivalentTo"}
xref: UMLS:C4310740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934707"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:476126", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:476126"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070074", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12303 {source="MONDO:mim2gene_medgen"} ! TRIO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014893
name: Okur-Chung neurodevelopmental syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "OCNDS" EXACT ABBREVIATION [OMIM:617062]
synonym: "Okur-Chung neurodevelopmental syndrome" EXACT [OMIM:617062]
synonym: "Okur-Chung neurodevelopmental syndrome; OCNDS" EXACT []
xref: MEDGEN:934706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617062 {source="MONDO:equivalentTo"}
xref: UMLS:C4310739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934706"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2457 {source="MONDO:mim2gene_medgen"} ! CSNK2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0014894
name: Meier-Gorlin syndrome 7
def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDC45 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Meier-Gorlin syndrome 7" EXACT [OMIM:617063]
synonym: "Meier-Gorlin syndrome 7; MGORS7" EXACT []
synonym: "Meier-Gorlin syndrome caused by mutation in CDC45" EXACT [MONDO:design_pattern]
synonym: "Meier-Gorlin syndrome type 7" EXACT [MONDORULE:1, OMIM:617063]
synonym: "MGORS7" EXACT ABBREVIATION [OMIM:617063]
xref: DOID:0080518 {source="MONDO:equivalentTo"}
xref: GARD:16181 {source="MONDO:GARD"}
xref: MEDGEN:934705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617063 {source="MONDO:equivalentTo"}
xref: UMLS:C4310738 {source="MEDGEN:934705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016817 {source="DC-OMIM:617063", source="MONDO:Redundant", source="OMIM:617063"} ! Meier-Gorlin syndrome
intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1739 ! CDC45
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617063"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1739 {source="MONDO:mim2gene_medgen"} ! CDC45
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014895
name: developmental and epileptic encephalopathy, 40
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE40" EXACT ABBREVIATION [OMIM:617065]
synonym: "developmental and epileptic encephalopathy 40" EXACT [OMIM:617065, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in GUF1" EXACT [MONDO:design_pattern]
synonym: "EIEE40" EXACT ABBREVIATION [OMIM:617065]
synonym: "epileptic encephalopathy, early infantile, 40" EXACT [OMIM:617065]
synonym: "epileptic encephalopathy, early infantile, 40; EIEE40" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 40" EXACT [MONDORULE:2, OMIM:617065]
synonym: "GUF1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080427 {source="MONDO:equivalentTo"}
xref: GARD:16182 {source="MONDO:GARD"}
xref: MEDGEN:934704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617065 {source="MONDO:equivalentTo"}
xref: UMLS:C4310737 {source="MONDO:equivalentTo", source="MEDGEN:934704", source="MONDO:MEDGEN"}
is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome
is_a: MONDO:0100062 {source="DC-OMIM:617065", source="MONDO:Redundant", source="OMIM:617065"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25799 ! GUF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25799 {source="MONDO:mim2gene_medgen"} ! GUF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014896
name: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
subset: gard_rare {source="GARD:17883", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:486815"}
subset: orphanet_rare {source="Orphanet:486815"}
subset: rare
synonym: "congenital muscular dystrophy, Davignon-Chauveau type" EXACT [Orphanet:486815]
synonym: "MDCDC" EXACT ABBREVIATION [OMIM:617066]
synonym: "muscular dystrophy, congenital, Davignon-Chauveau type" EXACT [OMIM:617066]
xref: GARD:17883 {source="MONDO:GARD"}
xref: MEDGEN:934703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617066 {source="MONDO:equivalentTo", source="Orphanet:486815"}
xref: Orphanet:486815 {source="MONDO:equivalentTo"}
xref: UMLS:C4310736 {source="MEDGEN:934703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019950 {source="Orphanet:486815"} ! congenital muscular dystrophy
is_a: MONDO:0020121 {source="DC-OMIM:617066", source="MONDO:Redundant", source="Orphanet:486815/inferred"} ! muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12310 {source="MONDO:mim2gene_medgen"} ! TRIP4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014897
name: obsolete portal hypertension, noncirrhotic
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3684" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024193

[Term]
id: MONDO:0014898
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
def: "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16183", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2" EXACT [MONDO:design_pattern]
synonym: "PEOB3" EXACT ABBREVIATION [OMIM:617069]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" EXACT [OMIM:617069]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3" EXACT []
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:617069]
synonym: "progressive external ophthalmoplegia, autosomal recessive 3" RELATED [OMIM:617069]
synonym: "TK2 autosomal recessive progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111523 {source="MONDO:equivalentTo"}
xref: GARD:16183 {source="MONDO:GARD"}
xref: MEDGEN:934701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617069 {source="MONDO:equivalentTo"}
xref: UMLS:C4310734 {source="MEDGEN:934701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000090 {source="DC-OMIM:617069", source="OMIM:617069"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0016810 {source="MONDO:Redundant", source="Orphanet:254886/btnt"} ! autosomal recessive progressive external ophthalmoplegia
intersection_of: MONDO:0016810 ! autosomal recessive progressive external ophthalmoplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11831 ! TK2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11831 {source="MONDO:mim2gene_medgen"} ! TK2

[Term]
id: MONDO:0014899
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
def: "An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism." [Orphanet:329314]
subset: gard_rare {source="GARD:17501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329314"}
subset: orphanet_rare {source="Orphanet:329314"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" EXACT [Orphanet:329314]
synonym: "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT [Orphanet:329314]
synonym: "PEOB4" EXACT ABBREVIATION [OMIM:617070]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" EXACT [OMIM:617070]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:617070]
synonym: "progressive external ophthalmoplegia, autosomal recessive 4" RELATED [OMIM:617070]
xref: DOID:0111516 {source="MONDO:equivalentTo"}
xref: GARD:17501 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:329314/attributed", source="Orphanet:329314/ntbt", source="Orphanet:329314"}
xref: MEDGEN:934700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617070 {source="Orphanet:329314/e", source="MONDO:equivalentTo", source="Orphanet:329314"}
xref: Orphanet:329314 {source="MONDO:equivalentTo"}
xref: SCTID:733599009 {source="MONDO:equivalentTo"}
xref: UMLS:C4310733 {source="MEDGEN:934700", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000090 {source="DC-OMIM:617070", source="OMIM:617070"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0009637 {source="Orphanet:329314", source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial myopathy
relationship: excluded_subClassOf MONDO:0018158 {source="Orphanet:329314", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2858 {source="MONDO:mim2gene_medgen"} ! DGUOK

[Term]
id: MONDO:0014900
name: autosomal recessive limb-girdle muscular dystrophy type 2Y
def: "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." [Orphanet:424261]
subset: gard_rare {source="GARD:17708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424261"}
subset: orphanet_rare {source="Orphanet:424261"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT [DOID:0110289, Orphanet:424261]
synonym: "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT [DOID:0110289, Orphanet:424261]
synonym: "LGMD2Y" EXACT ABBREVIATION [DOID:0110289, OMIM:617072, Orphanet:424261]
synonym: "muscular dystrophy with progressive weakness, distal contractures and rigid spine" EXACT [DOID:0110289, Orphanet:424261]
synonym: "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures" EXACT [OMIM:617072, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2Y" EXACT [DOID:0110289]
synonym: "muscular dystrophy, limb-girdle, type 2y" EXACT [OMIM:617072]
synonym: "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110289 {source="MONDO:equivalentTo"}
xref: GARD:17708 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:424261", source="Orphanet:424261/attributed", source="Orphanet:424261/ntbt", source="DOID:0110289"}
xref: MEDGEN:1385152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C181000 {source="MONDO:equivalentTo"}
xref: OMIM:617072 {source="MONDO:equivalentTo", source="Orphanet:424261", source="Orphanet:424261/e", source="DOID:0110289"}
xref: Orphanet:424261 {source="MONDO:equivalentTo", source="DOID:0110289"}
xref: SCTID:725907002 {source="MONDO:equivalentTo"}
xref: UMLS:C4511482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385152"}
is_a: MONDO:0015152 {source="DOID:0110289", source="MONDO:Redundant", source="OMIM:617072", source="Orphanet:424261"} ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 ! TOR1AIP1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29456 {source="MONDO:mim2gene_medgen"} ! TOR1AIP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014901
name: tooth agenesis, selective, 8
def: "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18250", source="MONDO:GARD"}
subset: rare
synonym: "STHAG8" EXACT ABBREVIATION [OMIM:617073]
synonym: "tooth agenesis caused by mutation in WNT10B" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 8" EXACT [OMIM:617073]
synonym: "tooth agenesis, selective, 8; STHAG8" EXACT []
synonym: "tooth agenesis, selective, type 8" EXACT [MONDORULE:1, OMIM:617073]
synonym: "WNT10B tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18250 {source="MONDO:GARD"}
xref: MEDGEN:934697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617073 {source="MONDO:equivalentTo"}
xref: UMLS:C4310730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934697"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:617073", source="MONDO:Redundant", source="OMIM:617073"} ! tooth agenesis
intersection_of: MONDO:0005486 ! tooth agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 ! WNT10B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 {source="MONDO:mim2gene_medgen"} ! WNT10B

[Term]
id: MONDO:0014902
name: nasopharyngeal carcinoma, susceptibility to, 3
def: "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene." [MONDO:patterns/disease_series_by_gene]
subset: inferred_rare
subset: predisposition
subset: rare
synonym: "MST1R nasopharyngeal carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nasopharyngeal carcinoma caused by mutation in MST1R" EXACT [MONDO:design_pattern]
synonym: "nasopharyngeal carcinoma, susceptibility to, 3" EXACT [OMIM:617075]
synonym: "nasopharyngeal carcinoma, susceptibility to, 3; NPCA3" EXACT []
synonym: "nasopharyngeal carcinoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:617075]
synonym: "NPCA3" EXACT ABBREVIATION [OMIM:617075]
synonym: "susceptibility to nasopharyngeal carcinoma 3" RELATED [OMIM:617075]
xref: MEDGEN:934696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617075 {source="MONDO:equivalentTo"}
xref: UMLS:C4310729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934696"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7381 ! MST1R
intersection_of: predisposes_towards MONDO:0015459 ! nasopharyngeal carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7381 {source="MONDO:mim2gene_medgen"} ! MST1R

[Term]
id: MONDO:0014903
name: seizures, benign familial infantile, 5
def: "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "benign familial infantile epilepsy caused by mutation in SCN8A" EXACT [MONDO:design_pattern]
synonym: "BFIS5" EXACT ABBREVIATION [OMIM:617080]
synonym: "convulsions, benign familial infantile, 5" RELATED [OMIM:617080]
synonym: "SCN8A benign familial infantile epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "seizures, benign familial infantile, 5" EXACT [OMIM:617080]
synonym: "seizures, benign familial infantile, 5; BFIS5" EXACT []
synonym: "seizures, benign familial infantile, type 5" EXACT [MONDORULE:1, OMIM:617080]
xref: DOID:0081118 {source="MONDO:equivalentTo"}
xref: GARD:16506 {source="MONDO:GARD"}
xref: MEDGEN:934695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617080 {source="MONDO:equivalentTo"}
xref: UMLS:C4310728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934695"}
is_a: MONDO:0017615 {source="DC-OMIM:617080", source="MONDO:Redundant", source="OMIM:617080"} ! benign familial infantile epilepsy
intersection_of: MONDO:0017615 ! benign familial infantile epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 ! SCN8A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 {source="MONDO:mim2gene_medgen"} ! SCN8A

[Term]
id: MONDO:0014904
name: congenital disorder of glycosylation, type IAA
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CDG1AA" EXACT ABBREVIATION [OMIM:617082]
synonym: "congenital disorder of glycosylation, type 1aa" EXACT [OMIM:617082, OMIM:genemap2]
synonym: "congenital disorder of glycosylation, type IAA" EXACT [OMIM:617082]
synonym: "congenital disorder of glycosylation, type IAA; CDG1AA" EXACT []
xref: DOID:0080553 {source="MONDO:equivalentTo"}
xref: MEDGEN:934694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617082 {source="MONDO:equivalentTo"}
xref: UMLS:C4310727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934694"}
is_a: MONDO:0005500 {source="DC-OMIM:617082"} ! congenital disorder of glycosylation type I
is_a: MONDO:0015286 {source="MONDO:Redundant", source="OMIM:617082"} ! congenital disorder of glycosylation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21042 {source="MONDO:mim2gene_medgen"} ! NUS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014905
name: encephalopathy due to defective mitochondrial and peroxisomal fission 2
subset: gard_rare {source="GARD:17881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome
subset: ordo_subtype_of_a_disorder {source="Orphanet:485421"}
subset: rare
synonym: "EMPF2" EXACT ABBREVIATION [OMIM:617086]
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 2" EXACT [OMIM:617086]
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission type 2" EXACT [MONDORULE:1, OMIM:617086]
synonym: "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome" EXACT [Orphanet:485421]
synonym: "MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
xref: GARD:17881 {source="MONDO:GARD"}
xref: MEDGEN:934693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617086 {source="Orphanet:485421", source="MONDO:equivalentTo"}
xref: Orphanet:485421 {source="MONDO:equivalentTo"}
xref: UMLS:C4310726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934693"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0005560 {source="DC-OMIM:617086", source="MONDO:Redundant", source="MONDO:indirect"} ! brain disorder
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0054865 {source="OMIM:617086", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:485421", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24858 {source="MONDO:mim2gene_medgen"} ! MFF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0014906
name: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
def: "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A." [NCIT:C150647]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Charcot-Marie-Tooth disease type 2A2B" EXACT [NCIT:C150647]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B" RELATED [OMIM:617087]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2B" EXACT [OMIM:617087, OMIM:genemap2]
synonym: "CMT2A2B" RELATED ABBREVIATION [OMIM:617087]
xref: DOID:0111557 {source="MONDO:equivalentTo"}
xref: MEDGEN:934692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C150647 {source="MONDO:equivalentTo"}
xref: OMIM:617087 {source="MONDO:equivalentTo"}
xref: UMLS:C4310725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934692"}
is_a: MONDO:0015626 {source="DC-OMIM:617087", source="NCIT:C150647/inferred", source="OMIM:617087"} ! Charcot-Marie-Tooth disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16877 {source="MONDO:mim2gene_medgen"} ! MFN2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014907
name: short-rib thoracic dysplasia 15 with polydactyly
subset: gard_rare {source="GARD:16185", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short-rib thoracic dysplasia 15 with polydactyly" EXACT [OMIM:617088]
synonym: "short-rib thoracic dysplasia 15 with polydactyly; SRTD15" EXACT []
synonym: "SRTD15" EXACT ABBREVIATION [OMIM:617088]
xref: GARD:16185 {source="MONDO:GARD"}
xref: MEDGEN:934691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617088 {source="MONDO:equivalentTo"}
xref: UMLS:C4310724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934691"}
is_a: MONDO:0018770 {source="OMIM:617088", source="Orphanet:474/btnt"} ! Jeune syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24595 {source="MONDO:mim2gene_medgen"} ! DYNC2LI1

[Term]
id: MONDO:0014908
name: microcephaly 17, primary, autosomal recessive
def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16186", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive primary microcephaly caused by mutation in CIT" EXACT []
synonym: "autosomal recessive primary microcephaly caused by mutation in cit" EXACT [MONDO:design_pattern]
synonym: "CIT autosomal recessive primary microcephaly" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "cit autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern]
synonym: "MCPH17" EXACT ABBREVIATION [OMIM:617090]
synonym: "microcephaly 17, primary, autosomal recessive" EXACT [OMIM:617090]
synonym: "microcephaly 17, primary, autosomal recessive; MCPH17" EXACT []
xref: DOID:0070288 {source="MONDO:equivalentTo"}
xref: GARD:16186 {source="MONDO:GARD"}
xref: MEDGEN:934690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617090 {source="MONDO:equivalentTo"}
xref: UMLS:C4310723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934690"}
is_a: MONDO:0016660 {source="DC-OMIM:617090", source="MONDO:Redundant", source="OMIM:617090"} ! autosomal recessive primary microcephaly
intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1985 ! CIT
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1985 {source="MONDO:mim2gene_medgen"} ! CIT

[Term]
id: MONDO:0014909
name: primary ciliary dyskinesia 34
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16187", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD34" EXACT ABBREVIATION [DOID:0110610, OMIM:617091]
synonym: "ciliary dyskinesia, primary, 34" EXACT [OMIM:617091]
synonym: "ciliary dyskinesia, primary, 34, without situs inversus" RELATED [OMIM:617091]
synonym: "ciliary dyskinesia, primary, type 34" EXACT [MONDORULE:2, OMIM:617091]
synonym: "DNAJB13 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "primary ciliary dyskinesia 34 without situs inversus" EXACT [DOID:0110610]
synonym: "primary ciliary dyskinesia caused by mutation in DNAJB13" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 34" EXACT [DOID:0110610, MONDORULE:2]
xref: DOID:0110610 {source="MONDO:equivalentTo"}
xref: GARD:16187 {source="MONDO:GARD"}
xref: MEDGEN:934689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617091 {source="DOID:0110610", source="MONDO:equivalentTo"}
xref: UMLS:C4310722 {source="MEDGEN:934689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:617091", source="DOID:0110610", source="MONDO:Redundant", source="OMIM:617091"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30718 ! DNAJB13
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30718 {source="MONDO:mim2gene_medgen"} ! DNAJB13

[Term]
id: MONDO:0014910
name: primary ciliary dyskinesia 35
def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD35" EXACT ABBREVIATION [DOID:0110620, OMIM:617092]
synonym: "ciliary dyskinesia, primary, 35" EXACT [OMIM:617092]
synonym: "ciliary dyskinesia, primary, 35, with or without situs inversus" RELATED [OMIM:617092]
synonym: "ciliary dyskinesia, primary, type 35" EXACT [MONDORULE:2, OMIM:617092]
synonym: "primary ciliary dyskinesia 35 with or without situs inversus" EXACT [DOID:0110620]
synonym: "primary ciliary dyskinesia caused by mutation in TTC25" EXACT [MONDO:design_pattern]
synonym: "primary ciliary dyskinesia type 35" EXACT [DOID:0110620, MONDORULE:2]
synonym: "TTC25 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110620 {source="MONDO:equivalentTo"}
xref: GARD:16188 {source="MONDO:GARD"}
xref: MEDGEN:934688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617092 {source="MONDO:equivalentTo", source="DOID:0110620"}
xref: UMLS:C4310721 {source="MEDGEN:934688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="DC-OMIM:617092", source="DOID:0110620", source="MONDO:Redundant", source="OMIM:617092"} ! primary ciliary dyskinesia
intersection_of: MONDO:0016575 ! primary ciliary dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25280 ! ODAD4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25280 {source="MONDO:mim2gene_medgen"} ! ODAD4

[Term]
id: MONDO:0014911
name: growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
def: "A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss." [Orphanet:541423]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)and from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:17980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:541423"}
subset: orphanet_rare {source="Orphanet:541423"}
subset: rare
synonym: "GRIDHH" EXACT ABBREVIATION [OMIM:617093]
synonym: "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" EXACT [OMIM:617093, OMIM:genemap2]
synonym: "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" EXACT [OMIM:617093]
synonym: "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH" EXACT []
xref: GARD:17980 {source="MONDO:GARD"}
xref: MEDGEN:934687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617093 {source="Orphanet:541423", source="MONDO:equivalentTo"}
xref: Orphanet:541423 {source="MONDO:equivalentTo"}
xref: UMLS:C4310720 {source="MEDGEN:934687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="EFO:0009155"} ! hereditary disease
relationship: has_characteristic HP:0000007 {source="Orphanet:541423"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5330 {source="MONDO:mim2gene_medgen", source="Orphanet:541423"} ! IARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0014912
name: infantile-onset periodic fever-panniculitis-dermatosis syndrome
subset: gard_rare {source="GARD:13198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500062"}
subset: orphanet_rare {source="Orphanet:500062"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIPDS" EXACT ABBREVIATION [OMIM:617099]
synonym: "autoinflammation, panniculitis and dermatosis syndrome" EXACT [DOID:0080163]
synonym: "AUTOINFLAMMATION, panniculitis, and dermatosis syndrome" RELATED [OMIM:617099]
synonym: "Autoinflammation, panniculitis, and dermatosis syndrome" EXACT [OMIM:617099]
synonym: "ORAS" EXACT ABBREVIATION [Orphanet:500062]
synonym: "otulin deficiency" EXACT [Orphanet:500062]
synonym: "otulin-related autoinflammatory syndrome" EXACT [DOID:0080163, Orphanet:500062]
synonym: "otulipenia" EXACT [Orphanet:500062]
xref: DOID:0080163 {source="MONDO:equivalentTo"}
xref: GARD:13198 {source="MONDO:GARD"}
xref: MEDGEN:934581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617099 {source="DOID:0080163", source="MONDO:equivalentTo", source="Orphanet:500062"}
xref: Orphanet:500062 {source="MONDO:equivalentTo"}
xref: SCTID:765435009 {source="MONDO:equivalentTo"}
xref: UMLS:C4310614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934581"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0005046 {source="DOID:0080163"} ! immune system disorder
is_a: MONDO:0017953 {source="Orphanet:500062"} ! hereditary periodic fever syndrome
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25118 {source="MONDO:mim2gene_medgen"} ! OTULIN
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13198/otulipenia" xsd:anyURI {source="GARD:0013198"}

[Term]
id: MONDO:0014913
name: obsolete MONDO:0014913
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044300

[Term]
id: MONDO:0014914
name: Dias-Logan syndrome
def: "Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "BCL11A-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
synonym: "BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin" RELATED [https://clinicalgenome.org/affiliation/40006/]
synonym: "BCL11A-related intellectual developmental disorder with persistence of foetal haemoglobin" RELATED OMO:0003005 []
synonym: "Dias-Logan syndrome" EXACT CLINGEN_LABEL [OMIM:617101]
synonym: "Dias-Logan syndrome; DILOS" EXACT []
synonym: "DILOS" EXACT ABBREVIATION [OMIM:617101]
synonym: "intellectual developmental disorder with hereditary persistence of fetal Hemoglobin" RELATED [OMIM:617101]
synonym: "intellectual developmental disorder with hereditary persistence of foetal Haemoglobin" RELATED OMO:0003005 []
synonym: "intellectual developmental disorder with persistence of fetal HEMOGLOBIN" RELATED [OMIM:617101]
synonym: "intellectual developmental disorder with persistence of fetal Hemoglobin" RELATED [OMIM:617101]
synonym: "intellectual developmental disorder with persistence of foetal Haemoglobin" RELATED OMO:0003005 []
synonym: "intellectual developmental disorder with persistence of foetal HEMOGLOBIN" RELATED OMO:0003005 []
xref: MEDGEN:934800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617101 {source="MONDO:equivalentTo"}
xref: UMLS:C4310833 {source="MEDGEN:934800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13221 {source="MONDO:mim2gene_medgen"} ! BCL11A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0014915
name: short-rib thoracic dysplasia 16 with or without polydactyly
subset: gard_rare {source="GARD:16189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short-rib thoracic dysplasia 16 with or without polydactyly" EXACT [OMIM:617102]
synonym: "short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16" EXACT []
synonym: "SRTD16" EXACT ABBREVIATION [OMIM:617102]
xref: GARD:16189 {source="MONDO:GARD"}
xref: MEDGEN:934685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617102 {source="MONDO:equivalentTo"}
xref: UMLS:C4310718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934685"}
is_a: MONDO:0009032 {source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia
is_a: MONDO:0018770 {source="OMIM:617102"} ! Jeune syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617102"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15901 {source="MONDO:mim2gene_medgen"} ! IFT52

[Term]
id: MONDO:0014916
name: developmental and epileptic encephalopathy, 41
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16190", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE41" EXACT ABBREVIATION [OMIM:617105]
synonym: "developmental and epileptic encephalopathy 41" EXACT [OMIM:617105, OMIM:genemap2]
synonym: "developmental and epileptic encephalopathy, 41" EXACT CLINGEN_LABEL []
synonym: "early infantile epileptic encephalopathy caused by mutation in SLC1A2" EXACT [MONDO:design_pattern]
synonym: "EIEE41" EXACT ABBREVIATION [OMIM:617105]
synonym: "epileptic encephalopathy, early infantile, 41" EXACT [OMIM:617105]
synonym: "epileptic encephalopathy, early infantile, 41; EIEE41" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 41" EXACT [MONDORULE:2, OMIM:617105]
synonym: "SLC1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080442 {source="MONDO:equivalentTo"}
xref: GARD:16190 {source="MONDO:GARD"}
xref: MEDGEN:934684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617105 {source="MONDO:equivalentTo"}
xref: UMLS:C4310717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934684"}
is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:617105", source="MONDO:Redundant", source="OMIM:617105"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10940 ! SLC1A2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10940 {source="MONDO:mim2gene_medgen"} ! SLC1A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014917
name: developmental and epileptic encephalopathy, 42
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CACNA1A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DEE42" EXACT ABBREVIATION [OMIM:617106]
synonym: "developmental and epileptic encephalopathy 42" EXACT [OMIM:617106, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in CACNA1A" EXACT [MONDO:design_pattern]
synonym: "EIEE42" EXACT ABBREVIATION [OMIM:617106]
synonym: "epileptic encephalopathy, early infantile, 42" EXACT [OMIM:617106]
synonym: "epileptic encephalopathy, early infantile, 42; EIEE42" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 42" EXACT [MONDORULE:2, OMIM:617106]
xref: DOID:0080454 {source="MONDO:equivalentTo"}
xref: GARD:16191 {source="MONDO:GARD"}
xref: MEDGEN:934683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617106 {source="MONDO:equivalentTo"}
xref: UMLS:C4310716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934683"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:617106", source="MONDO:Redundant", source="OMIM:617106"} ! developmental and epileptic encephalopathy
is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 {source="MONDO:mim2gene_medgen"} ! CACNA1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI

[Term]
id: MONDO:0014918
name: tall stature-intellectual disability-renal anomalies syndrome
subset: gard_rare {source="GARD:17921", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500095"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:500095"}
subset: rare
synonym: "THAUVIN-robinet-Faivre syndrome" RELATED [OMIM:617107]
synonym: "Thauvin-robinet-Faivre syndrome" EXACT [OMIM:617107, Orphanet:500095]
synonym: "TROFAS" EXACT ABBREVIATION [OMIM:617107]
xref: GARD:17921 {source="MONDO:GARD"}
xref: MEDGEN:934682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617107 {source="MONDO:equivalentTo", source="Orphanet:500095"}
xref: Orphanet:500095 {source="MONDO:equivalentTo"}
xref: UMLS:C4310715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934682"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:500095"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500095", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3705 {source="MONDO:mim2gene_medgen"} ! FIBP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014919
name: sessile serrated polyposis cancer syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sessile serrated polyposis cancer syndrome" EXACT CLINGEN_LABEL [OMIM:617108]
synonym: "sessile serrated polyposis cancer syndrome; SSPCS" EXACT []
synonym: "SSPCS" EXACT ABBREVIATION [OMIM:617108]
xref: MEDGEN:934681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617108 {source="MONDO:equivalentTo"}
xref: UMLS:C4310714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934681"}
is_a: MONDO:0015524 {source="Orphanet:157798/btnt"} ! hyperplastic polyposis syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18505 {source="MONDO:mim2gene_medgen"} ! RNF43

[Term]
id: MONDO:0014920
name: patterned macular dystrophy 3
def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466718"}
subset: orphanet_rare {source="Orphanet:466718"}
subset: rare
synonym: "macular dystrophy, patterned, 3" EXACT [OMIM:617111]
synonym: "macular dystrophy, patterned, type 3" EXACT [MONDORULE:1, OMIM:617111]
synonym: "MAPKAPK3 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Martinique crinkled retinal pigment epitheliopathy" EXACT [DOID:0060865]
synonym: "MCRPE" EXACT ABBREVIATION [Orphanet:466718]
synonym: "MDPT3" EXACT ABBREVIATION [DOID:0060865, OMIM:617111]
synonym: "patterned macular dystrophy caused by mutation in MAPKAPK3" EXACT [MONDO:design_pattern]
synonym: "patterned macular dystrophy type 3" EXACT [DOID:0060865, MONDORULE:1]
xref: DOID:0060865 {source="MONDO:equivalentTo"}
xref: GARD:17826 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:466718/attributed", source="Orphanet:466718/ntbt", source="Orphanet:466718"}
xref: MEDGEN:934680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617111 {source="MONDO:equivalentTo", source="DOID:0060865", source="Orphanet:466718"}
xref: Orphanet:466718 {source="MONDO:equivalentTo"}
xref: UMLS:C4310713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934680"}
is_a: MONDO:0020381 {source="DOID:0060865", source="MONDO:Redundant", source="OMIM:617111"} ! patterned macular dystrophy
intersection_of: MONDO:0020381 ! patterned macular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6888 ! MAPKAPK3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6888 {source="MONDO:mim2gene_medgen"} ! MAPKAPK3

[Term]
id: MONDO:0014921
name: developmental and epileptic encephalopathy, 43
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16192", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE43" EXACT ABBREVIATION [OMIM:617113]
synonym: "developmental and epileptic encephalopathy 43" EXACT [OMIM:617113, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB3" EXACT [MONDO:design_pattern]
synonym: "EIEE43" EXACT ABBREVIATION [OMIM:617113]
synonym: "epileptic encephalopathy, early infantile, 43" EXACT [OMIM:617113]
synonym: "epileptic encephalopathy, early infantile, 43; EIEE43" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 43" EXACT [MONDORULE:2, OMIM:617113]
synonym: "GABRB3 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080447 {source="MONDO:equivalentTo"}
xref: GARD:16192 {source="MONDO:GARD"}
xref: MEDGEN:934679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617113 {source="MONDO:equivalentTo"}
xref: UMLS:C4310712 {source="MEDGEN:934679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016532 {source="Orphanet:2382/btnt"} ! Lennox-Gastaut syndrome
is_a: MONDO:0100062 {source="DC-OMIM:617113", source="MONDO:Redundant", source="OMIM:617113"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4083 ! GABRB3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4083 {source="MONDO:mim2gene_medgen"} ! GABRB3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014922
name: myofibrillar myopathy 7
def: "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098]
synonym: "KY myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MFM7" RELATED ABBREVIATION [OMIM:617114]
synonym: "myofibrillar myopathy (disease) caused by mutation in KY" EXACT []
synonym: "myopathy, myofibrillar, 7" EXACT [OMIM:617114]
synonym: "myopathy, myofibrillar, type 7" EXACT [MONDORULE:1, OMIM:617114]
xref: DOID:0080098 {source="MONDO:lexical", source="MONDO:equivalentTo"}
xref: MEDGEN:934678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617114 {source="DOID:0080098", source="MONDO:equivalentTo"}
xref: UMLS:C4310711 {source="MEDGEN:934678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018943 {source="DOID:0080098", source="MONDO:Redundant", source="OMIM:617114"} ! myofibrillar myopathy
intersection_of: MONDO:0018943 ! myofibrillar myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26576 ! KY
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26576 {source="MONDO:mim2gene_medgen"} ! KY

[Term]
id: MONDO:0014923
name: peeling skin syndrome 5
def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "peeling skin syndrome 5" EXACT [OMIM:617115]
synonym: "peeling skin syndrome 5; PSS5" EXACT []
synonym: "peeling skin syndrome caused by mutation in SERPINB8" EXACT [MONDO:design_pattern]
synonym: "peeling skin syndrome type 5" EXACT [MONDORULE:1, OMIM:617115]
synonym: "PSS5" EXACT ABBREVIATION [OMIM:617115]
synonym: "SERPINB8 peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070524 {source="MONDO:equivalentTo"}
xref: GARD:18427 {source="MONDO:GARD"}
xref: MEDGEN:934677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617115 {source="MONDO:equivalentTo"}
xref: UMLS:C4310710 {source="MEDGEN:934677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017339 {source="Orphanet:289586/btnt"} ! exfoliative ichthyosis
is_a: MONDO:0019347 {source="DC-OMIM:617115", source="MONDO:Redundant", source="OMIM:617115"} ! peeling skin syndrome
intersection_of: MONDO:0019347 ! peeling skin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8952 ! SERPINB8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8952 {source="MONDO:mim2gene_medgen"} ! SERPINB8

[Term]
id: MONDO:0014924
name: epilepsy, familial focal, with variable foci 2
def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18203", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, familial focal, with variable foci 2" EXACT [OMIM:617116]
synonym: "epilepsy, familial focal, with variable foci 2; FFEVF2" EXACT []
synonym: "epilepsy, familial focal, with variable foci caused by mutation in NPRL2" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial focal, with variable foci type 2" EXACT [MONDORULE:1, OMIM:617116]
synonym: "FFEVF2" EXACT ABBREVIATION [OMIM:617116]
synonym: "NPRL2 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081422 {source="MONDO:equivalentTo"}
xref: GARD:18203 {source="MONDO:GARD"}
xref: MEDGEN:934676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617116 {source="MONDO:equivalentTo"}
xref: UMLS:C4310709 {source="MEDGEN:934676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020310 {source="DC-OMIM:617116", source="MONDO:Redundant", source="OMIM:617116"} ! familial focal epilepsy with variable foci
intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24969 ! NPRL2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24969 {source="MONDO:mim2gene_medgen"} ! NPRL2

[Term]
id: MONDO:0014925
name: epilepsy, familial focal, with variable foci 3
def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, familial focal, with variable foci 3" EXACT [OMIM:617118]
synonym: "epilepsy, familial focal, with variable foci 3; FFEVF3" EXACT []
synonym: "epilepsy, familial focal, with variable foci caused by mutation in NPRL3" EXACT [MONDO:design_pattern]
synonym: "epilepsy, familial focal, with variable foci type 3" EXACT [MONDORULE:1, OMIM:617118]
synonym: "FFEVF3" EXACT ABBREVIATION [OMIM:617118]
synonym: "NPRL3 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081423 {source="MONDO:equivalentTo"}
xref: GARD:18204 {source="MONDO:GARD"}
xref: MEDGEN:934675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617118 {source="MONDO:equivalentTo"}
xref: UMLS:C4310708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934675"}
is_a: MONDO:0020310 {source="DC-OMIM:617118", source="MONDO:Redundant", source="OMIM:617118"} ! familial focal epilepsy with variable foci
intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14124 ! NPRL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14124 {source="MONDO:mim2gene_medgen"} ! NPRL3

[Term]
id: MONDO:0014926
name: Bardet-Biedl syndrome 22
def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16193", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 20; BBS20" RELATED DEPRECATED []
synonym: "Bardet-Biedl syndrome caused by mutation in IFT74" EXACT [MONDO:design_pattern]
synonym: "Bardet-Biedl syndrome type 20" RELATED DEPRECATED [MONDORULE:2, OMIM:617119]
synonym: "BBS20" RELATED DEPRECATED [OMIM:617119]
synonym: "IFT74 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081011 {source="MONDO:equivalentTo"}
xref: GARD:16193 {source="MONDO:GARD"}
xref: MEDGEN:1794146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617119 {source="MONDO:equivalentTo"}
xref: UMLS:C5561936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794146"}
is_a: MONDO:0015229 {source="DC-OMIM:617119", source="MONDO:Redundant", source="OMIM:617119"} ! Bardet-Biedl syndrome
intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21424 ! IFT74
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617119"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21424 {source="MONDO:mim2gene_medgen"} ! IFT74

[Term]
id: MONDO:0014927
name: Joubert syndrome 27
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "B9D1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS27" EXACT ABBREVIATION [DOID:0110996, OMIM:617120]
synonym: "Joubert syndrome 27" EXACT CLINGEN_LABEL [OMIM:617120]
synonym: "Joubert syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 27" EXACT [DOID:0110996, MONDORULE:2, OMIM:617120]
xref: DOID:0110996 {source="MONDO:equivalentTo"}
xref: GARD:16194 {source="MONDO:GARD"}
xref: MEDGEN:934673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617120 {source="DOID:0110996", source="MONDO:equivalentTo"}
xref: UMLS:C4310706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934673"}
is_a: MONDO:0018772 {source="DC-OMIM:617120", source="DOID:0110996", source="MONDO:Redundant", source="OMIM:617120"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24123 ! B9D1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24123 {source="MONDO:mim2gene_medgen"} ! B9D1

[Term]
id: MONDO:0014928
name: Joubert syndrome 28
def: "Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS28" EXACT ABBREVIATION [DOID:0110997, OMIM:617121]
synonym: "Joubert syndrome 28" EXACT [OMIM:617121]
synonym: "Joubert syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern]
synonym: "Joubert syndrome type 28" EXACT [DOID:0110997, MONDORULE:2, OMIM:617121]
synonym: "MKS1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110997 {source="MONDO:equivalentTo"}
xref: GARD:16195 {source="MONDO:GARD"}
xref: MEDGEN:934672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617121 {source="DOID:0110997", source="MONDO:equivalentTo"}
xref: UMLS:C4310705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934672"}
is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect
is_a: MONDO:0018772 {source="DC-OMIM:617121", source="DOID:0110997", source="MONDO:Redundant", source="OMIM:617121"} ! Joubert syndrome
intersection_of: MONDO:0018772 ! Joubert syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 ! MKS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7121 {source="MONDO:mim2gene_medgen"} ! MKS1

[Term]
id: MONDO:0014929
name: retinitis pigmentosa 76
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POMGNT1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 76" EXACT [OMIM:617123]
synonym: "retinitis pigmentosa 76; RP76" EXACT []
synonym: "retinitis pigmentosa caused by mutation in POMGNT1" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 76" EXACT [MONDORULE:2, OMIM:617123]
synonym: "RP76" EXACT ABBREVIATION [OMIM:617123]
xref: GARD:16196 {source="MONDO:GARD"}
xref: MEDGEN:934671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617123 {source="MONDO:equivalentTo"}
xref: UMLS:C4310704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934671"}
is_a: MONDO:0019200 {source="DC-OMIM:617123", source="MONDO:Redundant", source="OMIM:617123"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 ! POMGNT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1

[Term]
id: MONDO:0014930
name: intellectual disability, autosomal recessive 56
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22574", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14" EXACT [MONDO:design_pattern]
synonym: "intellectual developmental disorder, autosomal recessive 56" EXACT [OMIM:617125, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 56" EXACT [OMIM:617125]
synonym: "intellectual disability, autosomal recessive type 56" EXACT [MONDORULE:2, OMIM:617125]
synonym: "mental retardation, autosomal recessive 56" EXACT DEPRECATED [OMIM:617125]
synonym: "mental retardation, autosomal recessive type 56" EXACT DEPRECATED [MONDORULE:2, OMIM:617125]
synonym: "MRT56" EXACT ABBREVIATION [OMIM:617125]
synonym: "ZC3H14 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081217 {source="MONDO:equivalentTo"}
xref: GARD:22574 {source="MONDO:GARD"}
xref: MEDGEN:934670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617125 {source="MONDO:equivalentTo"}
xref: UMLS:C4310703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934670"}
is_a: MONDO:0019502 {source="DC-OMIM:617125", source="MONDO:Redundant", source="OMIM:617125"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20509 ! ZC3H14
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20509 {source="MONDO:mim2gene_medgen"} ! ZC3H14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014931
name: Alazami-Yuan syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "Alazami-Yuan syndrome" EXACT [OMIM:617126]
synonym: "Alazami-Yuan syndrome; ALYUS" EXACT []
synonym: "ALYUS" EXACT ABBREVIATION [OMIM:617126]
xref: MEDGEN:934669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617126 {source="MONDO:equivalentTo"}
xref: UMLS:C4310702 {source="MEDGEN:934669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11540 {source="MONDO:mim2gene_medgen"} ! TAF6

[Term]
id: MONDO:0014932
name: orofaciodigital syndrome XV
subset: gard_rare {source="GARD:16197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OFD15" EXACT ABBREVIATION [OMIM:617127]
synonym: "Ofds 15" RELATED [OMIM:617127]
synonym: "oral-Facial-digital syndrome, type 15" RELATED [OMIM:617127]
synonym: "orofaciodigital syndrome 15" RELATED [OMIM:617127]
synonym: "orofaciodigital syndrome type XV" EXACT [MONDORULE:3, OMIM:617127]
synonym: "orofaciodigital syndrome XV" EXACT [OMIM:617127]
xref: GARD:16197 {source="MONDO:GARD"}
xref: MEDGEN:934668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617127 {source="MONDO:equivalentTo"}
xref: UMLS:C4310701 {source="MEDGEN:934668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015375 {source="https://orcid.org/0000-0002-6601-2165"} ! orofaciodigital syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29110 {source="MONDO:mim2gene_medgen"} ! KIAA0753

[Term]
id: MONDO:0014933
name: developmental and epileptic encephalopathy, 44
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE44" EXACT ABBREVIATION [OMIM:617132]
synonym: "developmental and epileptic encephalopathy 44" EXACT [OMIM:617132, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in UBA5" EXACT [MONDO:design_pattern]
synonym: "EIEE44" EXACT ABBREVIATION [OMIM:617132]
synonym: "epileptic encephalopathy, early infantile, 44" EXACT [OMIM:617132]
synonym: "epileptic encephalopathy, early infantile, 44; EIEE44" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 44" EXACT [MONDORULE:2, OMIM:617132]
synonym: "UBA5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080424 {source="MONDO:equivalentTo"}
xref: GARD:16198 {source="MONDO:GARD"}
xref: MEDGEN:934667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617132 {source="MONDO:equivalentTo"}
xref: UMLS:C4310700 {source="MEDGEN:934667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:617132", source="MONDO:Redundant", source="OMIM:617132"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23230 ! UBA5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23230 {source="MONDO:mim2gene_medgen"} ! UBA5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014934
name: spinocerebellar ataxia, autosomal recessive 24
def: "Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant cerebellar ataxia caused by mutation in UBA5" EXACT [MONDO:design_pattern]
synonym: "SCAR24" EXACT ABBREVIATION [OMIM:617133]
synonym: "spinocerebellar ataxia, autosomal recessive 24" EXACT [OMIM:617133]
synonym: "spinocerebellar ataxia, autosomal recessive 24; SCAR24" EXACT []
synonym: "spinocerebellar ataxia, autosomal recessive type 24" EXACT [MONDORULE:2, OMIM:617133]
synonym: "UBA5 autosomal dominant cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111615 {source="MONDO:equivalentTo"}
xref: MEDGEN:934666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617133 {source="MONDO:equivalentTo"}
xref: UMLS:C4310699 {source="MEDGEN:934666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020380 {source="DC-OMIM:617133", source="MONDO:Redundant"} ! autosomal dominant cerebellar ataxia
intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23230 ! UBA5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23230 {source="MONDO:mim2gene_medgen"} ! UBA5

[Term]
id: MONDO:0014935
name: frontometaphyseal dysplasia 2
def: "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FMD2" EXACT ABBREVIATION [OMIM:617137]
synonym: "Frontometaphyseal dysplasia 2" EXACT [OMIM:617137]
synonym: "frontometaphyseal dysplasia 2; FMD2" EXACT []
synonym: "frontometaphyseal dysplasia caused by mutation in MAP3K7" EXACT [MONDO:design_pattern]
synonym: "Frontometaphyseal dysplasia type 2" EXACT [MONDORULE:1, OMIM:617137]
synonym: "MAP3K7 frontometaphyseal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111787 {source="MONDO:equivalentTo"}
xref: GARD:16199 {source="MONDO:GARD"}
xref: MEDGEN:934664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617137 {source="MONDO:equivalentTo"}
xref: UMLS:C4310697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934664"}
is_a: MONDO:0015942 {source="DC-OMIM:617137", source="MONDO:Redundant", source="OMIM:617137"} ! frontometaphyseal dysplasia
is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder
intersection_of: MONDO:0015942 ! frontometaphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6859 ! MAP3K7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6859 {source="MONDO:mim2gene_medgen"} ! MAP3K7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014936
name: ZTTK syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500150"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:500150"}
subset: rare
synonym: "brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome" RELATED [Orphanet:500150]
synonym: "TOKIMS" EXACT ABBREVIATION [OMIM:617140]
synonym: "Tokita-Kim syndrome" EXACT [OMIM:617140]
synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" RELATED [OMIM:617140]
synonym: "ZTTK multiple congenital anomalies-intellectual disability syndrome" RELATED [OMIM:617140]
synonym: "ZTTK multiple congenital anomalies-mental retardation syndrome" RELATED DEPRECATED [OMIM:617140]
synonym: "ZTTK syndrome" EXACT CLINGEN_LABEL [OMIM:617140]
synonym: "ZTTKS" RELATED ABBREVIATION [OMIM:617140]
xref: DOID:0060953 {source="MONDO:equivalentTo"}
xref: GARD:13489 {source="MONDO:GARD"}
xref: MEDGEN:934663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617140 {source="MONDO:equivalentTo", source="Orphanet:500150"}
xref: Orphanet:500150 {source="MONDO:equivalentTo", source="OMIM:617140"}
xref: UMLS:C4310696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934663"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:500150"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500150", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11183 {source="MONDO:mim2gene_medgen"} ! SON
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014937
name: aniridia 2
comment: The term, ocular dysgenesis caused by defects in PAX6 regulation, was proposed by the ClinGen Glaucoma / Neuro-Ophthalmology GCEP as a parent term for cases of ocular disease caused by variants in the PAX6 gene itself (MONDO:0800183 PAX6-related ocular dysgenesis) or by disruption of PAX6 expression by variants in the ELP4 locus (this class, MONDO:0014937 aniridia 2) or TRIM44 locus (MONDO:0014938 aniridia 3).
subset: gard_rare {source="GARD:16200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AN2" EXACT ABBREVIATION [OMIM:617141]
synonym: "aniridia 2" EXACT [OMIM:617141]
synonym: "aniridia type 2" EXACT [MONDORULE:1, OMIM:617141]
xref: GARD:16200 {source="MONDO:GARD"}
xref: MEDGEN:138010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536372 {source="MONDO:equivalentTo"}
xref: OMIM:617141 {source="MONDO:equivalentTo"}
xref: SCTID:253232000 {source="MONDO:equivalentTo"}
xref: UMLS:C0344543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138010"}
is_a: MONDO:0007119 {source="OMIM:617141", source="Orphanet:250923/btnt"} ! isolated aniridia
is_a: MONDO:0100534 {source="https://clinicalgenome.org/affiliation/40077/", source="https://orcid.org/0000-0001-5935-2391"} ! SMARCB1-deficient kidney medullary carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1171 {source="MONDO:mim2gene_medgen", source="OMIM:617141"} ! ELP4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7066" xsd:anyURI

[Term]
id: MONDO:0014938
name: aniridia 3
def: "Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene." [MONDO:patterns/disease_series_by_gene]
comment: The term, ocular dysgenesis caused by defects in PAX6 regulation, was proposed by the ClinGen Glaucoma / Neuro-Ophthalmology GCEP as a parent term for cases of ocular disease caused by variants in the PAX6 gene itself (MONDO:0800183 PAX6-related ocular dysgenesis) or by disruption of PAX6 expression by variants in the ELP4 locus ( MONDO:0014937 aniridia 2) or TRIM44 locus (this class, MONDO:0014938 aniridia 3).
subset: gard_rare {source="GARD:16201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AN3" EXACT ABBREVIATION [OMIM:617142]
synonym: "aniridia 3" EXACT [OMIM:617142]
synonym: "aniridia 3; AN3" EXACT []
synonym: "aniridia type 3" EXACT [MONDORULE:1, OMIM:617142]
synonym: "isolated aniridia caused by mutation in TRIM44" EXACT [MONDO:design_pattern]
synonym: "TRIM44 isolated aniridia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16201 {source="MONDO:GARD"}
xref: MEDGEN:934662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617142 {source="MONDO:equivalentTo"}
xref: UMLS:C4310695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934662"}
is_a: MONDO:0007119 {source="MONDO:Redundant", source="OMIM:617142", source="Orphanet:250923/btnt"} ! isolated aniridia
is_a: MONDO:0100534 {source="https://clinicalgenome.org/affiliation/40077/", source="https://orcid.org/0000-0001-5935-2391"} ! SMARCB1-deficient kidney medullary carcinoma
intersection_of: MONDO:0007119 ! isolated aniridia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19016 ! TRIM44
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19016 {source="OMIM:617142"} ! TRIM44
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7066" xsd:anyURI

[Term]
id: MONDO:0014939
name: congenital myasthenic syndrome 20
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16202", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS20" EXACT ABBREVIATION [DOID:0110661, OMIM:617143]
synonym: "congenital myasthenic syndrome 20 presynaptic" EXACT [DOID:0110661]
synonym: "congenital myasthenic syndrome caused by mutation in SLC5A7" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 20" EXACT [DOID:0110661, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 20, presynaptic" EXACT [OMIM:617143]
synonym: "SLC5A7 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110661 {source="MONDO:equivalentTo"}
xref: GARD:16202 {source="MONDO:GARD"}
xref: MEDGEN:934661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617143 {source="MONDO:equivalentTo", source="DOID:0110661"}
xref: UMLS:C4310694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934661"}
is_a: MONDO:0018940 {source="DOID:0110661", source="MONDO:Redundant", source="OMIM:617143"} ! congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14025 ! SLC5A7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14025 {source="MONDO:mim2gene_medgen"} ! SLC5A7

[Term]
id: MONDO:0014940
name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
subset: otar {source="MONDO:OTAR"}
synonym: "NADGP" EXACT ABBREVIATION [OMIM:617145]
synonym: "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" EXACT [OMIM:617145]
synonym: "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP" EXACT []
xref: DOID:0081364 {source="MONDO:equivalentTo"}
xref: MEDGEN:934660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617145 {source="MONDO:equivalentTo"}
xref: UMLS:C4310693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934660"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1

[Term]
id: MONDO:0014941
name: arthrogryposis, distal, with impaired proprioception and touch
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arthrogryposis, distal, with impaired proprioception and touch" EXACT [OMIM:617146]
synonym: "arthrogryposis, distal, with impaired proprioception and touch; DAIPT" EXACT []
synonym: "DAIPT" EXACT ABBREVIATION [OMIM:617146]
xref: MEDGEN:934659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617146 {source="MONDO:equivalentTo"}
xref: UMLS:C4310692 {source="MEDGEN:934659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019942 ! distal arthrogryposis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2

[Term]
id: MONDO:0014942
name: developmental and epileptic encephalopathy, 45
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16203", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE45" EXACT ABBREVIATION [OMIM:617153]
synonym: "developmental and epileptic encephalopathy 45" EXACT [OMIM:617153, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB1" EXACT [MONDO:design_pattern]
synonym: "EIEE45" EXACT ABBREVIATION [OMIM:617153]
synonym: "epileptic encephalopathy, early infantile, 45" EXACT [OMIM:617153]
synonym: "epileptic encephalopathy, early infantile, 45; EIEE45" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 45" EXACT [MONDORULE:2, OMIM:617153]
synonym: "GABRB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080428 {source="MONDO:equivalentTo"}
xref: GARD:16203 {source="MONDO:GARD"}
xref: MEDGEN:934658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617153 {source="MONDO:equivalentTo"}
xref: UMLS:C4310691 {source="MEDGEN:934658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:617153", source="MONDO:Redundant", source="OMIM:617153"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4081 ! GABRB1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4081 {source="MONDO:mim2gene_medgen"} ! GABRB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014943
name: mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" EXACT [OMIM:617156]
synonym: "mitochondrial DNA depletion syndrome caused by mutation in TFAM" EXACT [MONDO:design_pattern]
synonym: "MTDPS15" RELATED ABBREVIATION [OMIM:617156]
synonym: "TFAM mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080337 {source="MONDO:equivalentTo"}
xref: MEDGEN:934657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617156 {source="MONDO:equivalentTo"}
xref: UMLS:C4310690 {source="MEDGEN:934657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 {source="DOID:0080337"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0018158 {source="DC-OMIM:617156", source="MONDO:Redundant", source="OMIM:617156"} ! mitochondrial DNA depletion syndrome
intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11741 ! TFAM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11741 {source="MONDO:mim2gene_medgen"} ! TFAM
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0014944
name: short stature-brachydactyly-obesity-global developmental delay syndrome
subset: gard_rare {source="GARD:17817", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464288"}
subset: ordo_malformation_syndrome {source="Orphanet:464288"}
subset: orphanet_rare {source="Orphanet:464288"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SBIDDS" EXACT ABBREVIATION [OMIM:617157]
synonym: "short stature, brachydactyly, intellectual developmental disability, and seizures" EXACT [OMIM:617157]
xref: GARD:17817 {source="MONDO:GARD"}
xref: MEDGEN:934656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617157 {source="Orphanet:464288", source="MONDO:equivalentTo", source="Orphanet:464288/e"}
xref: Orphanet:464288 {source="MONDO:equivalentTo"}
xref: UMLS:C4310689 {source="MEDGEN:934656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464288"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:464288"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019695 {source="Orphanet:464288"} ! acromelic dysplasia
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:464288", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25557 {source="MONDO:mim2gene_medgen"} ! PRMT7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014945
name: myopathy, distal, with rimmed vacuoles
subset: gard_rare {source="GARD:16204", source="MONDO:GARD"}
subset: rare
synonym: "DMRV" EXACT ABBREVIATION [OMIM:617158]
synonym: "myopathy, distal, with rimmed vacuoles" EXACT [OMIM:617158]
synonym: "myopathy, distal, with rimmed vacuoles; DMRV" EXACT []
xref: DOID:0081363 {source="MONDO:equivalentTo"}
xref: GARD:16204 {source="MONDO:GARD"}
xref: MEDGEN:1728314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200218 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:617158 {source="MONDO:equivalentTo"}
xref: UMLS:C5399975 {source="MEDGEN:1728314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018949 ! distal myopathy
is_a: MONDO:0800464 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1-related multisystem proteinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0014946
name: Sifrim-Hitz-Weiss syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:653712"}
subset: orphanet_rare {source="Orphanet:653712"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome" RELATED [OMIM:617159]
synonym: "Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome" RELATED DEPRECATED [OMIM:617159]
synonym: "Sifrim-Hitz-Weiss syndrome" EXACT [OMIM:617159]
synonym: "Sifrim-Hitz-Weiss syndrome; SIHIWES" EXACT []
synonym: "SIHIWES" EXACT ABBREVIATION [OMIM:617159]
xref: DOID:0070529 {source="MONDO:equivalentTo"}
xref: MEDGEN:934655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617159 {source="MONDO:equivalentTo"}
xref: Orphanet:653712 {source="MONDO:equivalentTo"}
xref: UMLS:C4310688 {source="MEDGEN:934655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1919 {source="MONDO:mim2gene_medgen"} ! CHD4

[Term]
id: MONDO:0014947
name: developmental and epileptic encephalopathy, 46
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16205", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE46" EXACT ABBREVIATION [OMIM:617162]
synonym: "developmental and epileptic encephalopathy 46" EXACT [OMIM:617162, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2D" EXACT [MONDO:design_pattern]
synonym: "EIEE46" EXACT ABBREVIATION [OMIM:617162]
synonym: "epileptic encephalopathy, early infantile, 46" EXACT [OMIM:617162]
synonym: "epileptic encephalopathy, early infantile, 46; EIEE46" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 46" EXACT [MONDORULE:2, OMIM:617162]
synonym: "GRIN2D early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080456 {source="MONDO:equivalentTo"}
xref: GARD:16205 {source="MONDO:GARD"}
xref: MEDGEN:934654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617162 {source="MONDO:equivalentTo"}
xref: UMLS:C4310687 {source="MEDGEN:934654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:617162", source="MONDO:Redundant", source="OMIM:617162"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4588 ! GRIN2D
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4588 {source="MONDO:mim2gene_medgen"} ! GRIN2D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014948
name: short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
subset: otar {source="MONDO:OTAR"}
synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" EXACT CLINGEN_LABEL [OMIM:617164]
synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD" EXACT []
synonym: "SRMMD" EXACT ABBREVIATION [OMIM:617164]
xref: MEDGEN:934653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617164 {source="MONDO:equivalentTo"}
xref: UMLS:C4310686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934653"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/649 {source="MONDO:mim2gene_medgen"} ! ARCN1

[Term]
id: MONDO:0014949
name: developmental and epileptic encephalopathy, 47
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE47" EXACT ABBREVIATION [OMIM:617166]
synonym: "developmental and epileptic encephalopathy 47" EXACT [OMIM:617166, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in FGF12" EXACT [MONDO:design_pattern]
synonym: "EIEE47" EXACT ABBREVIATION [OMIM:617166]
synonym: "epileptic encephalopathy, early infantile, 47" EXACT [OMIM:617166]
synonym: "epileptic encephalopathy, early infantile, 47; EIEE47" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 47" EXACT [MONDORULE:2, OMIM:617166]
synonym: "FGF12 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080425 {source="MONDO:equivalentTo"}
xref: GARD:16206 {source="MONDO:GARD"}
xref: MEDGEN:934652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617166 {source="MONDO:equivalentTo"}
xref: UMLS:C4310685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934652"}
is_a: MONDO:0018614 {source="Orphanet:442835/btnt"} ! undetermined early-onset epileptic encephalopathy
is_a: MONDO:0100062 {source="DC-OMIM:617166", source="MONDO:Redundant", source="OMIM:617166"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3668 ! FGF12
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3668 {source="MONDO:mim2gene_medgen"} ! FGF12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014950
name: aortic aneurysm, familial thoracic 10
def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAT10" EXACT ABBREVIATION [OMIM:617168]
synonym: "aortic aneurysm, familial thoracic 10" EXACT [OMIM:617168]
synonym: "aortic aneurysm, familial thoracic type 10" EXACT [MONDORULE:2, OMIM:617168]
synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX" EXACT [MONDO:design_pattern]
synonym: "LOX familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16207 {source="MONDO:GARD"}
xref: MEDGEN:924785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617168 {source="MONDO:equivalentTo"}
xref: UMLS:C4284414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924785"}
is_a: MONDO:0019625 {source="MONDO:Redundant", source="OMIM:617168", source="Orphanet:91387/btnt"} ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: MONDO:0019625 ! familial thoracic aortic aneurysm and aortic dissection
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6664 ! LOX
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6664 {source="MONDO:mim2gene_medgen"} ! LOX

[Term]
id: MONDO:0014951
name: intellectual developmental disorder, autosomal recessive 74
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16208", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "APC2 Sotos syndrome" EXACT DEPRECATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual developmental disorder, autosomal recessive 74" EXACT [OMIM:617169, OMIM:genemap2]
synonym: "Sotos syndrome 3" EXACT DEPRECATED [OMIM:617169]
synonym: "Sotos syndrome caused by mutation in APC2" EXACT DEPRECATED [MONDO:design_pattern]
synonym: "Sotos syndrome type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:617169]
synonym: "SOTOS3" EXACT DEPRECATED [OMIM:617169]
xref: DOID:0081218 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0112104 {source="MONDO:equivalentTo"}
xref: GARD:16208 {source="MONDO:GARD"}
xref: MEDGEN:934651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617169 {source="MONDO:equivalentTo"}
xref: UMLS:C4310684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934651"}
is_a: MONDO:0019502 {source="OMIM:617169"} ! autosomal recessive non-syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019349 {source="OMIM:617169", source="https://orcid.org/0000-0001-5208-3432"} ! Sotos syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617169"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24036 {source="MONDO:mim2gene_medgen"} ! APC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0014952
name: intellectual disability-epilepsy-extrapyramidal syndrome
subset: gard_rare {source="GARD:13474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468620"}
subset: orphanet_rare {source="Orphanet:468620"}
subset: rare
synonym: "DYSEIDD" RELATED ABBREVIATION [OMIM:617171]
synonym: "dyskinesia, seizures, and intellectual developmental disorder" RELATED [OMIM:617171]
synonym: "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" EXACT [OMIM:617171, OMIM:genemap2]
xref: GARD:13474 {source="MONDO:GARD"}
xref: MEDGEN:934650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617171 {source="Orphanet:468620", source="MONDO:equivalentTo", source="Orphanet:468620/e"}
xref: Orphanet:468620 {source="MONDO:equivalentTo"}
xref: UMLS:C4310683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934650"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:468620", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14677 {source="MONDO:mim2gene_medgen"} ! DEAF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0014953
name: gnb5-related intellectual disability-cardiac arrhythmia syndrome
subset: gard_rare {source="GARD:17982", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:542306"}
subset: orphanet_rare {source="Orphanet:542306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDDCA" EXACT ABBREVIATION [OMIM:617173]
synonym: "intellectual developmental disorder with cardiac arrhythmia" EXACT [OMIM:617173]
synonym: "intellectual developmental disorder with cardiac arrhythmia; IDDCA" EXACT []
xref: DOID:0081008 {source="MONDO:equivalentTo"}
xref: GARD:17982 {source="MONDO:GARD"}
xref: MEDGEN:1800300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617173 {source="MONDO:equivalentTo", source="Orphanet:542306"}
xref: Orphanet:542306 {source="MONDO:equivalentTo"}
xref: UMLS:C5568877 {source="MEDGEN:1800300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic HP:0000007 {source="Orphanet:542306"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4401 {source="MONDO:mim2gene_medgen", source="Orphanet:542306"} ! GNB5

[Term]
id: MONDO:0014954
name: Ehlers-Danlos syndrome, periodontal type 2
subset: gard_rare {source="GARD:16209", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDSPD2" RELATED ABBREVIATION [OMIM:617174]
synonym: "Ehlers-Danlos syndrome, periodontal type, 2" RELATED [OMIM:617174]
xref: DOID:0080987 {source="MONDO:equivalentTo"}
xref: GARD:16209 {source="MONDO:GARD"}
xref: MEDGEN:934648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617174 {source="MONDO:equivalentTo"}
xref: UMLS:C4310681 {source="MEDGEN:934648", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007527 {source="Orphanet:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type
intersection_of: MONDO:0007527 ! Ehlers-Danlos syndrome, periodontitis type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1247 ! C1S
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1247 {source="MONDO:mim2gene_medgen"} ! C1S

[Term]
id: MONDO:0014955
name: RCBTB1-related retinopathy
comment: RCBTB1-related retinopathy describes a range of retinal phenotypes caused by bi-allelic variants in the RCBTB1 gene. While extra-ocular phenotypes in addition to retinopathy have been reported in some patients, no clear pattern has been observed.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18241", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RCBTB1-related retinopathy" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-5655-9589]
synonym: "RDEOA" EXACT ABBREVIATION [OMIM:617175]
synonym: "retinal dystrophy with or without extraocular anomalies" EXACT [OMIM:617175]
xref: GARD:18241 {source="MONDO:GARD"}
xref: MEDGEN:934647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617175 {source="MONDO:equivalentTo"}
xref: UMLS:C4310680 {source="MEDGEN:934647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009979 ! reticular dystrophy of the retinal pigment epithelium
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18243 {source="MONDO:mim2gene_medgen"} ! RCBTB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5116" xsd:anyURI

[Term]
id: MONDO:0014956
name: Chitayat syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "Chitayat syndrome" EXACT [OMIM:617180]
synonym: "Chitayat syndrome; CHYTS" EXACT []
synonym: "CHYTS" EXACT ABBREVIATION [OMIM:617180]
xref: MEDGEN:934646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617180 {source="MONDO:equivalentTo"}
xref: UMLS:C4310679 {source="MEDGEN:934646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3444 {source="MONDO:mim2gene_medgen"} ! ERF

[Term]
id: MONDO:0014957
name: language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
subset: otar {source="MONDO:OTAR"}
synonym: "LADCI" EXACT ABBREVIATION [OMIM:617182]
synonym: "language delay and ADHD/cognitive impairment with or without cardiac arrhythmia" EXACT [OMIM:617182, OMIM:genemap2]
synonym: "language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia" EXACT [OMIM:617182]
synonym: "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI" EXACT []
xref: MEDGEN:934645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617182 {source="MONDO:equivalentTo"}
xref: UMLS:C4310678 {source="MEDGEN:934645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4401 {source="MONDO:mim2gene_medgen"} ! GNB5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014958
name: Harel-Yoon syndrome
def: "A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy." [OMIM:617183]
subset: gard_rare {source="GARD:17915", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:496790"}
subset: orphanet_rare {source="Orphanet:496790"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Harel-Yoon syndrome" EXACT [OMIM:617183, Orphanet:496790]
synonym: "Harel-Yoon syndrome; HAYOS" EXACT []
synonym: "HAYOS" EXACT ABBREVIATION [OMIM:617183]
synonym: "optic atrophy-peripheral neuropathy-developmental delay syndrome" EXACT [MONDO:0044652]
xref: DOID:0081395 {source="MONDO:equivalentTo"}
xref: GARD:17915 {source="MONDO:GARD"}
xref: MEDGEN:934644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617183 {source="MONDO:equivalentTo", source="Orphanet:496790"}
xref: Orphanet:496790 {source="MONDO:equivalentTo"}
xref: UMLS:C4310677 {source="MEDGEN:934644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:617183"} ! hereditary disease
is_a: MONDO:0700092 {source="OMIM:617183"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:496790", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0016803 {source="Orphanet:496790", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unspecified inborn mitochondrial disorder
relationship: excluded_subClassOf MONDO:0018609 {source="Orphanet:496790", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hereditary optic neuropathy
relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25567 {source="MONDO:mim2gene_medgen"} ! ATAD3A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4927" xsd:anyURI

[Term]
id: MONDO:0014959
name: mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD" EXACT [OMIM:617184, OMIM:genemap2]
synonym: "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant" EXACT [OMIM:617184]
synonym: "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A" EXACT []
synonym: "MTDPS12A" EXACT ABBREVIATION [OMIM:617184]
xref: DOID:0080130 {source="MONDO:equivalentTo"}
xref: MEDGEN:934643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617184 {source="MONDO:equivalentTo"}
xref: UMLS:C4310676 {source="MEDGEN:934643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018158 {source="DC-OMIM:617184", source="OMIM:617184"} ! mitochondrial DNA depletion syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 {source="MONDO:mim2gene_medgen"} ! SLC25A4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014960
name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT [OMIM:617186]
synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL" EXACT []
synonym: "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy; PEBEL" EXACT OMO:0003005 []
synonym: "PEBEL" EXACT ABBREVIATION [OMIM:617186]
xref: EFO:0009158 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: OMIMPS:617186 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="EFO:0009158", source="OMIMPS:617186"} ! hereditary disease
is_a: MONDO:0024237 {source="Orphanet:555407"} ! inherited neurodegenerative disorder
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617186"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0014961
name: spermatogenic failure 16
def: "Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "acephalic spermatozoa syndrome" RELATED [OMIM:617187]
synonym: "azoospermia caused by mutation in SUN5" EXACT [MONDO:design_pattern]
synonym: "spermatogenic failure 16" EXACT [OMIM:617187]
synonym: "spermatogenic failure 16; SPGF16" EXACT []
synonym: "spermatogenic failure type 16" EXACT [MONDORULE:2, OMIM:617187]
synonym: "SPGF16" EXACT ABBREVIATION [OMIM:617187]
synonym: "SUN5 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0070184 {source="MONDO:equivalentTo"}
xref: MEDGEN:934641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617187 {source="MONDO:equivalentTo"}
xref: UMLS:C4310674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934641"}
is_a: MONDO:0004983 {source="DC-OMIM:617187", source="MONDO:Redundant", source="OMIM:617187"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16252 ! SUN5
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16252 ! SUN5
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16252 {source="MONDO:mim2gene_medgen"} ! SUN5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16252 {source="MONDO:mim2gene_medgen"} ! SUN5

[Term]
id: MONDO:0014962
name: intellectual disability, autosomal recessive 57
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22575", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" EXACT [MONDO:design_pattern]
synonym: "intellectual developmental disorder, autosomal recessive 57" EXACT [OMIM:617188, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 57" EXACT [OMIM:617188]
synonym: "intellectual disability, autosomal recessive type 57" EXACT [MONDORULE:2, OMIM:617188]
synonym: "MBOAT7 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "mental retardation, autosomal recessive 57" EXACT DEPRECATED [OMIM:617188]
synonym: "mental retardation, autosomal recessive type 57" EXACT DEPRECATED [MONDORULE:2, OMIM:617188]
synonym: "MRT57" EXACT ABBREVIATION [OMIM:617188]
xref: DOID:0081219 {source="MONDO:equivalentTo"}
xref: GARD:22575 {source="MONDO:GARD"}
xref: MEDGEN:934640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617188 {source="MONDO:equivalentTo"}
xref: UMLS:C4310673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934640"}
is_a: MONDO:0019502 {source="DC-OMIM:617188", source="MONDO:Redundant", source="OMIM:617188"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15505 ! MBOAT7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15505 {source="MONDO:mim2gene_medgen"} ! MBOAT7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014963
name: Shashi-Pena syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "SHAPNS" EXACT ABBREVIATION [OMIM:617190]
synonym: "Shashi-Pena syndrome" EXACT [OMIM:617190]
synonym: "Shashi-Pena syndrome; SHAPNS" EXACT []
xref: MEDGEN:934639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617190 {source="MONDO:equivalentTo"}
xref: UMLS:C4310672 {source="MEDGEN:934639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23805 {source="MONDO:mim2gene_medgen"} ! ASXL2

[Term]
id: MONDO:0014964
name: obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1623" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044646

[Term]
id: MONDO:0014965
name: lethal congenital contracture syndrome 11
def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:13220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GLDN lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCCS11" EXACT ABBREVIATION [OMIM:617194]
synonym: "lethal congenital contracture arthrogryposis-11" RELATED [GARD:0013220]
synonym: "lethal congenital contracture syndrome 11" EXACT [OMIM:617194]
synonym: "lethal congenital contracture syndrome 11; LCCS11" EXACT []
synonym: "lethal congenital contracture syndrome caused by mutation in GLDN" EXACT [MONDO:design_pattern]
synonym: "lethal congenital contracture syndrome type 11" EXACT [MONDORULE:2, OMIM:617194]
xref: GARD:13220 {source="MONDO:GARD"}
xref: MEDGEN:934637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617194 {source="MONDO:equivalentTo"}
xref: UMLS:C4310670 {source="MEDGEN:934637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017436 {source="DC-OMIM:617194", source="MONDO:Redundant", source="OMIM:617194"} ! lethal congenital contracture syndrome
intersection_of: MONDO:0017436 ! lethal congenital contracture syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29514 ! GLDN
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29514 {source="MONDO:mim2gene_medgen"} ! GLDN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0014966
name: periventricular nodular heterotopia 7
def: "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NEDD4L periventricular nodular heterotopia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "periventricular nodular heterotopia 7" EXACT [OMIM:617201]
synonym: "periventricular nodular heterotopia 7; PVNH7" EXACT []
synonym: "periventricular nodular heterotopia caused by mutation in NEDD4L" EXACT [MONDO:design_pattern]
synonym: "periventricular nodular heterotopia type 7" EXACT [MONDORULE:1, OMIM:617201]
synonym: "PVNH7" EXACT ABBREVIATION [OMIM:617201]
xref: GARD:16210 {source="MONDO:GARD"}
xref: MEDGEN:934636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617201 {source="MONDO:equivalentTo"}
xref: UMLS:C4310669 {source="MEDGEN:934636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020341 {source="DC-OMIM:617201", source="MONDO:Redundant"} ! periventricular nodular heterotopia
intersection_of: MONDO:0020341 ! periventricular nodular heterotopia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7728 ! NEDD4L
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7728 {source="MONDO:mim2gene_medgen"} ! NEDD4L

[Term]
id: MONDO:0014967
name: heterotaxy, visceral, 8, autosomal
def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "heterotaxy, visceral, 8, autosomal" EXACT [OMIM:617205]
synonym: "heterotaxy, visceral, 8, autosomal; HTX8" EXACT []
synonym: "HTX8" EXACT ABBREVIATION [OMIM:617205]
synonym: "PKD1L1 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "visceral heterotaxy caused by mutation in PKD1L1" EXACT [MONDO:design_pattern]
xref: MEDGEN:934635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617205 {source="MONDO:equivalentTo"}
xref: UMLS:C4310668 {source="MEDGEN:934635", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018677 {source="DC-OMIM:617205", source="MONDO:Redundant", source="OMIM:617205"} ! visceral heterotaxy
intersection_of: MONDO:0018677 ! visceral heterotaxy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18053 ! PKD1L1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18053 {source="MONDO:mim2gene_medgen"} ! PKD1L1

[Term]
id: MONDO:0014968
name: encephalopathy, progressive, with amyotrophy and optic atrophy
subset: otar {source="MONDO:OTAR"}
synonym: "encephalopathy, progressive, with amyotrophy and optic atrophy" EXACT [OMIM:617207]
synonym: "encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO" EXACT []
synonym: "PEAMO" EXACT ABBREVIATION [OMIM:617207]
xref: MEDGEN:934634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617207 {source="MONDO:equivalentTo"}
xref: UMLS:C4310667 {source="MEDGEN:934634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11582 {source="MONDO:mim2gene_medgen"} ! TBCE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0014969
name: isolated sedoheptulokinase deficiency
subset: gard_rare {source="GARD:18652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440713"}
subset: orphanet_rare {source="Orphanet:440713"}
subset: rare
synonym: "isolated SHPK deficiency" EXACT [Orphanet:440713]
synonym: "sedoheptulokinase deficiency" EXACT [OMIM:617213, OMIM:genemap2]
synonym: "SHPKD" EXACT ABBREVIATION [OMIM:617213]
xref: GARD:18652 {source="MONDO:GARD"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:713680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617213 {source="MONDO:equivalentTo", source="Orphanet:440713"}
xref: Orphanet:440713 {source="MONDO:equivalentTo"}
xref: SCTID:124309005 {source="MONDO:equivalentTo"}
xref: UMLS:C1291373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:713680"}
is_a: MONDO:0019231 {source="Orphanet:440713", source="PMID:33340416"} ! inborn disorder of pentose phosphate metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1492 {source="MONDO:mim2gene_medgen"} ! SHPK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0014970
name: spermatogenic failure 17
def: "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "azoospermia caused by mutation in PLCZ1" EXACT [MONDO:design_pattern]
synonym: "Male infertility due to oocyte Activation failure" RELATED [OMIM:617214]
synonym: "PLCZ1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "spermatogenic failure 17" EXACT [OMIM:617214]
synonym: "spermatogenic failure 17; SPGF17" EXACT []
synonym: "spermatogenic failure type 17" EXACT [MONDORULE:2, OMIM:617214]
synonym: "SPGF17" EXACT ABBREVIATION [OMIM:617214]
xref: DOID:0070174 {source="MONDO:equivalentTo"}
xref: MEDGEN:934633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617214 {source="MONDO:equivalentTo"}
xref: UMLS:C4310666 {source="MEDGEN:934633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="DC-OMIM:617214", source="MONDO:Redundant", source="OMIM:617214"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19218 ! PLCZ1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19218 ! PLCZ1
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19218 {source="MONDO:mim2gene_medgen"} ! PLCZ1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19218 {source="MONDO:mim2gene_medgen"} ! PLCZ1

[Term]
id: MONDO:0014971
name: amelogenesis imperfecta, hypomaturation type, IIa6
subset: gard_rare {source="GARD:16211", source="MONDO:GARD"}
subset: rare
synonym: "AI2A6" EXACT ABBREVIATION [OMIM:617217]
synonym: "amelogenesis imperfecta, hypomaturation type, IIa6" EXACT [OMIM:617217]
synonym: "amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6" EXACT []
xref: DOID:0080960 {source="MONDO:equivalentTo"}
xref: GARD:16211 {source="MONDO:GARD"}
xref: MEDGEN:934632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617217 {source="MONDO:equivalentTo"}
xref: UMLS:C4310665 {source="MEDGEN:934632", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2
is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:617217"} ! amelogenesis imperfecta
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4519 {source="MONDO:mim2gene_medgen"} ! GPR68

[Term]
id: MONDO:0014972
name: chromosome 19q13.11 deletion syndrome, proximal
def: "Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted." [https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:935013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617219 {source="MONDO:equivalentTo"}
xref: UMLS:C4311046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:935013"}
is_a: MONDO:0000761 {source="DC-OMIM:617219"} ! syndrome caused by partial chromosomal deletion
relationship: disease_arises_from_structure CHR:9606-chr19q13.11 {source="https://orcid.org/0000-0002-4142-7153"} ! 19q13.11 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0014973
name: sudden cardiac failure, infantile
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCFI" EXACT ABBREVIATION [OMIM:617222]
synonym: "sudden Cardiac failure, infantile" EXACT [OMIM:617222]
synonym: "sudden cardiac failure, infantile; SCFI" EXACT []
xref: MEDGEN:934631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617222 {source="MONDO:equivalentTo"}
xref: UMLS:C4310664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934631"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28883 {source="MONDO:mim2gene_medgen"} ! PPA2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6139" xsd:anyURI

[Term]
id: MONDO:0014974
name: sudden cardiac failure, alcohol-induced
synonym: "SCFAI" EXACT ABBREVIATION [OMIM:617223]
synonym: "sudden Cardiac failure, alcohol-induced" EXACT [OMIM:617223]
synonym: "sudden cardiac failure, alcohol-induced; SCFAI" EXACT []
xref: MEDGEN:934630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617223 {source="MONDO:equivalentTo"}
xref: UMLS:C4310663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934630"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28883 {source="MONDO:mim2gene_medgen"} ! PPA2

[Term]
id: MONDO:0014975
name: autosomal recessive spastic paraplegia type 78
def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17952", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:513436"}
subset: orphanet_rare {source="Orphanet:513436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATP13A2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hereditary spastic paraplegia caused by mutation in ATP13A2" EXACT [MONDO:design_pattern]
synonym: "spastic paraplegia 78, autosomal recessive" EXACT [OMIM:617225]
synonym: "spastic paraplegia 78, autosomal recessive; SPG78" EXACT []
synonym: "SPG78" EXACT ABBREVIATION [OMIM:617225]
xref: DOID:0112348 {source="MONDO:equivalentTo"}
xref: GARD:17952 {source="MONDO:GARD"}
xref: MEDGEN:1799316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617225 {source="Orphanet:513436", source="MONDO:equivalentTo"}
xref: Orphanet:513436 {source="MONDO:equivalentTo"}
xref: UMLS:C5567893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799316"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="DC-OMIM:617225", source="MONDO:Redundant", source="OMIM:617225"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30213 ! ATP13A2
relationship: has_characteristic HP:0000007 {source="Orphanet:513436"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30213 {source="MONDO:mim2gene_medgen", source="Orphanet:513436"} ! ATP13A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0014976
name: lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
def: "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis." [Orphanet:478049]
subset: gard_rare {source="GARD:17865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:478049"}
subset: orphanet_rare {source="Orphanet:478049"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 31" EXACT [OMIM:617228]
synonym: "combined oxidative phosphorylation deficiency caused by mutation in MIPEP" EXACT [MONDO:design_pattern]
synonym: "combined oxidative phosphorylation deficiency type 31" EXACT [MONDORULE:2, OMIM:617228]
synonym: "COXPD31" EXACT ABBREVIATION [OMIM:617228]
synonym: "MIPEP combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111488 {source="MONDO:equivalentTo"}
xref: GARD:17865 {source="MONDO:GARD"}
xref: MEDGEN:934628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617228 {source="Orphanet:478049", source="MONDO:equivalentTo"}
xref: Orphanet:478049 {source="MONDO:equivalentTo"}
xref: UMLS:C4310661 {source="MEDGEN:934628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:617228", source="MONDO:Redundant", source="OMIM:617228"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0005267 {source="MONDO:Redundant", source="Orphanet:478049"} ! heart disorder
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7104 {source="MONDO:mim2gene_medgen"} ! MIPEP
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020029"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7104 {source="MONDO:mim2gene_medgen"} ! MIPEP

[Term]
id: MONDO:0014977
name: autosomal recessive limb-girdle muscular dystrophy type 2R1
alt_id: MONDO:0018817
def: "An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients." [https://clinicalgenome.org/affiliation/40061/, NCIT:C142082, PMID:1897643, PMID:27807076, PMID:30055862]
subset: gard_rare {source="GARD:17869", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480682"}
subset: orphanet_rare {source="Orphanet:480682"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive limb-girdle muscular dystrophy type 2Z" EXACT [OMIM:617232]
synonym: "LGMD2Z" EXACT ABBREVIATION [OMIM:617232, Orphanet:480682]
synonym: "limb-girdle muscular dystrophy type 2Z" EXACT [NCIT:C142082]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 21" EXACT [OMIM:617232, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 2Z" EXACT [OMIM:617232]
synonym: "POGLUT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080762 {source="MONDO:equivalentTo"}
xref: GARD:17869 {source="MONDO:GARD"}
xref: MEDGEN:934627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C142082 {source="MONDO:equivalentTo"}
xref: OMIM:617232 {source="MONDO:equivalentTo"}
xref: Orphanet:480682 {source="MONDO:equivalentTo"}
xref: UMLS:C4310660 {source="MONDO:equivalentTo", source="MEDGEN:934627", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="MONDO:Redundant", source="OMIM:617232", source="Orphanet:480682"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016971 {source="DC-OMIM:617232", source="MONDO:Redundant", source="NCIT:C142082", source="Orphanet:480682/inferred"} ! limb-girdle muscular dystrophy
is_a: MONDO:0017741 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of protein O-glycosylation
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22954 ! POGLUT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22954 {source="MONDO:mim2gene_medgen"} ! POGLUT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4822" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6758" xsd:anyURI

[Term]
id: MONDO:0014978
name: obsolete preimplantation embryonic lethality 2
def: "OBSOLETE. Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "PADI6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "preimplantation embryonic lethality 2" EXACT [OMIM:617234]
synonym: "preimplantation embryonic lethality 2; PREMBL2" EXACT []
synonym: "preimplantation embryonic lethality caused by mutation in PADI6" EXACT [MONDO:design_pattern]
synonym: "preimplantation embryonic lethality type 2" EXACT [MONDORULE:1, OMIM:617234]
synonym: "PREMBL2" EXACT ABBREVIATION [OMIM:617234]
xref: OMIM:617234 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5091" xsd:anyURI
is_obsolete: true
consider: HP:0032479

[Term]
id: MONDO:0014979
name: myoclonus, intractable, neonatal
synonym: "myoclonus, intractable, neonatal" EXACT [OMIM:617235]
synonym: "myoclonus, intractable, neonatal; NEIMY" EXACT []
synonym: "NEIMY" EXACT ABBREVIATION [OMIM:617235]
xref: MEDGEN:934625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617235 {source="MONDO:equivalentTo"}
xref: UMLS:C4310658 {source="MEDGEN:934625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6323 {source="MONDO:mim2gene_medgen"} ! KIF5A

[Term]
id: MONDO:0014980
name: cone-rod dystrophy and hearing loss
subset: clingen {source="MONDO:CLINGEN"}
synonym: "cone-rod dystrophy and hearing loss" EXACT CLINGEN_LABEL [OMIM:617236]
synonym: "cone-rod dystrophy and hearing loss; CRDHL" EXACT []
synonym: "CRDHL" EXACT ABBREVIATION [OMIM:617236]
xref: OMIMPS:617236 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="EFO:0009151", source="OMIMPS:617236"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617236"} ! inherited

[Term]
id: MONDO:0014981
name: immunodeficiency 49
def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BCL11B primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "IMD49" EXACT ABBREVIATION [OMIM:617237]
synonym: "immunodeficiency 49" EXACT [OMIM:617237]
synonym: "immunodeficiency 49; IMD49" EXACT []
synonym: "immunodeficiency type 49" EXACT [MONDORULE:2, OMIM:617237]
synonym: "primary immunodeficiency disease caused by mutation in BCL11B" EXACT [MONDO:design_pattern]
synonym: "SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [OMIM:617237]
synonym: "severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [OMIM:617237]
xref: DOID:0111979 {source="MONDO:equivalentTo"}
xref: MEDGEN:934623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617237 {source="MONDO:equivalentTo"}
xref: UMLS:C4310656 {source="MEDGEN:934623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DC-OMIM:617237", source="MONDO:Redundant"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0031520 {source="OMIM:617237"} ! familial severe combined immunodeficiency
intersection_of: MONDO:0003778 ! inborn error of immunity
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13222 ! BCL11B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13222 {source="MONDO:mim2gene_medgen"} ! BCL11B

[Term]
id: MONDO:0014982
name: myopia 25, autosomal dominant
def: "Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "myopia (disease) caused by mutation in P4HA2" EXACT []
synonym: "myopia 25, autosomal dominant" EXACT [OMIM:617238]
synonym: "myopia 25, autosomal dominant; MYP25" EXACT []
synonym: "MYP25" EXACT ABBREVIATION [OMIM:617238]
synonym: "P4HA2 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:934622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617238 {source="MONDO:equivalentTo"}
xref: UMLS:C4310655 {source="MEDGEN:934622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="DC-OMIM:617238", source="MONDO:Redundant", source="OMIM:617238"} ! myopia
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0001384 ! myopia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8547 ! P4HA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8547 {source="MONDO:mim2gene_medgen"} ! P4HA2

[Term]
id: MONDO:0014983
name: congenital myasthenic syndrome 21
def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS21" EXACT ABBREVIATION [DOID:0110672, OMIM:617239]
synonym: "congenital myasthenic syndrome 21, presynaptic" EXACT [DOID:0110672]
synonym: "congenital myasthenic syndrome caused by mutation in SLC18A3" EXACT [MONDO:design_pattern]
synonym: "congenital myasthenic syndrome type 21" EXACT [DOID:0110672, MONDORULE:2]
synonym: "myasthenic syndrome, congenital, 21, presynaptic" EXACT [OMIM:617239]
synonym: "SLC18A3 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110672 {source="MONDO:equivalentTo"}
xref: GARD:16212 {source="MONDO:GARD"}
xref: MEDGEN:934621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617239 {source="MONDO:equivalentTo", source="DOID:0110672"}
xref: UMLS:C4310654 {source="MEDGEN:934621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="DOID:0110672", source="MONDO:Redundant", source="OMIM:617239"} ! congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10936 ! SLC18A3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10936 {source="MONDO:mim2gene_medgen"} ! SLC18A3

[Term]
id: MONDO:0014984
name: lung disease, immunodeficiency, and chromosome breakage syndrome;
synonym: "LICS" RELATED ABBREVIATION [OMIM:617241]
synonym: "lung disease, immunodeficiency, and chromosome breakage syndrome" RELATED [OMIM:617241]
xref: MEDGEN:934620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617241 {source="MONDO:equivalentTo"}
xref: UMLS:C4310653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934620"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7677 {source="MONDO:mim2gene_medgen"} ! NSMCE3

[Term]
id: MONDO:0014985
name: Fanconi anemia complementation group V
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16213", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fanconi anaemia caused by mutation in MAD2L2" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type V" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in MAD2L2" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type V" EXACT [DOID:0111080, MONDORULE:1]
synonym: "Fanconi Anemia, complementation Group 5" RELATED [OMIM:617243]
synonym: "Fanconi Anemia, complementation group type V" EXACT [MONDORULE:1, OMIM:617243]
synonym: "Fanconi Anemia, complementation group V" EXACT [OMIM:617243]
synonym: "Fanconi anemia, complementation GROUP V" RELATED [OMIM:617243]
synonym: "FANCV" EXACT ABBREVIATION [DOID:0111080, OMIM:617243]
synonym: "MAD2L2 Fanconi anaemia" EXACT OMO:0003005 []
synonym: "MAD2L2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111080 {source="MONDO:equivalentTo"}
xref: GARD:16213 {source="MONDO:GARD"}
xref: MEDGEN:934619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617243 {source="DOID:0111080", source="MONDO:equivalentTo"}
xref: UMLS:C4310652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934619"}
is_a: MONDO:0019391 {source="DC-OMIM:617243", source="DOID:0111080", source="MONDO:Redundant", source="OMIM:617243"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6764 ! MAD2L2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6764 {source="MONDO:mim2gene_medgen"} ! MAD2L2

[Term]
id: MONDO:0014986
name: Fanconi anemia complementation group R
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16214", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fanconi anaemia caused by mutation in RAD51" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type R" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in RAD51" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type R" EXACT [DOID:0111090, MONDORULE:1]
synonym: "Fanconi Anemia, complementation group R" EXACT [OMIM:617244]
synonym: "Fanconi anemia, complementation GROUP R" RELATED [OMIM:617244]
synonym: "Fanconi Anemia, complementation group type R" EXACT [MONDORULE:1, OMIM:617244]
synonym: "FANCR" EXACT ABBREVIATION [DOID:0111090, OMIM:617244]
synonym: "RAD51 Fanconi anaemia" EXACT OMO:0003005 []
synonym: "RAD51 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111090 {source="MONDO:equivalentTo"}
xref: GARD:16214 {source="MONDO:GARD"}
xref: MEDGEN:924579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617244 {source="DOID:0111090", source="MONDO:equivalentTo"}
xref: UMLS:C4284093 {source="MEDGEN:924579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019391 {source="DC-OMIM:617244", source="DOID:0111090", source="MONDO:Redundant", source="OMIM:617244"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9817 ! RAD51
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9817 {source="MONDO:mim2gene_medgen"} ! RAD51

[Term]
id: MONDO:0014987
name: Fanconi anemia complementation group U
def: "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16215", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fanconi anaemia caused by mutation in XRCC2" EXACT OMO:0003005 []
synonym: "Fanconi anaemia complementation group type U" EXACT OMO:0003005 []
synonym: "Fanconi anemia caused by mutation in XRCC2" EXACT [MONDO:design_pattern]
synonym: "Fanconi anemia complementation group type U" EXACT [DOID:0111085, MONDORULE:1]
synonym: "Fanconi Anemia, complementation group type U" EXACT [MONDORULE:1, OMIM:617247]
synonym: "Fanconi Anemia, complementation group U" EXACT [OMIM:617247]
synonym: "Fanconi anemia, complementation GROUP U" RELATED [OMIM:617247]
synonym: "FANCU" EXACT ABBREVIATION [DOID:0111085, OMIM:617247]
synonym: "XRCC2 Fanconi anaemia" EXACT OMO:0003005 []
synonym: "XRCC2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111085 {source="MONDO:equivalentTo"}
xref: GARD:16215 {source="MONDO:GARD"}
xref: MEDGEN:934618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617247 {source="DOID:0111085", source="MONDO:equivalentTo"}
xref: UMLS:C4310651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934618"}
is_a: MONDO:0019391 {source="DC-OMIM:617247", source="DOID:0111085", source="MONDO:Redundant", source="OMIM:617247"} ! Fanconi anemia
intersection_of: MONDO:0019391 ! Fanconi anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12829 ! XRCC2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12829 {source="MONDO:mim2gene_medgen"} ! XRCC2

[Term]
id: MONDO:0014988
name: obsolete 3-methylglutaconic aciduria, type VIII
comment: Duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044723

[Term]
id: MONDO:0014989
name: uncombable hair syndrome 2
def: "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TGM3 uncombable hair syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UHS2" EXACT ABBREVIATION [OMIM:617251]
synonym: "uncombable hair syndrome 2" EXACT [OMIM:617251]
synonym: "uncombable hair syndrome 2; UHS2" EXACT []
synonym: "uncombable hair syndrome caused by mutation in TGM3" EXACT [MONDO:design_pattern]
synonym: "uncombable hair syndrome type 2" EXACT [MONDORULE:1, OMIM:617251]
xref: GARD:16216 {source="MONDO:GARD"}
xref: MEDGEN:934616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617251 {source="MONDO:equivalentTo"}
xref: UMLS:C4310649 {source="MONDO:equivalentTo", source="MEDGEN:934616", source="MONDO:MEDGEN"}
is_a: MONDO:0008621 {source="MONDO:Redundant"} ! uncombable hair syndrome
intersection_of: MONDO:0008621 ! uncombable hair syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11779 ! TGM3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11779 {source="MONDO:mim2gene_medgen"} ! TGM3

[Term]
id: MONDO:0014990
name: uncombable hair syndrome 3
def: "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16217", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TCHH uncombable hair syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "UHS3" EXACT ABBREVIATION [OMIM:617252]
synonym: "uncombable hair syndrome 3" EXACT [OMIM:617252]
synonym: "uncombable hair syndrome 3; UHS3" EXACT []
synonym: "uncombable hair syndrome caused by mutation in TCHH" EXACT [MONDO:design_pattern]
synonym: "uncombable hair syndrome type 3" EXACT [MONDORULE:1, OMIM:617252]
xref: GARD:16217 {source="MONDO:GARD"}
xref: MEDGEN:934615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617252 {source="MONDO:equivalentTo"}
xref: UMLS:C4310648 {source="MEDGEN:934615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008621 {source="MONDO:Redundant"} ! uncombable hair syndrome
intersection_of: MONDO:0008621 ! uncombable hair syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11791 ! TCHH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11791 {source="MONDO:mim2gene_medgen"} ! TCHH

[Term]
id: MONDO:0014991
name: Seckel syndrome 10
def: "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene." [MONDO:patterns/disease_series_by_gene]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'reproductive system disorder' (MONDO:0005039) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0002-2825-0621)
subset: gard_rare {source="GARD:18484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NSMCE2 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SCKL10" EXACT ABBREVIATION [DOID:0070008, OMIM:617253]
synonym: "Seckel syndrome 10" EXACT [OMIM:617253]
synonym: "Seckel syndrome caused by mutation in NSMCE2" EXACT [MONDO:design_pattern]
synonym: "Seckel syndrome type 10" EXACT [MONDORULE:2, OMIM:617253]
xref: DOID:0070008 {source="MONDO:equivalentTo"}
xref: GARD:18484 {source="MONDO:GARD"}
xref: MEDGEN:934614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617253 {source="MONDO:equivalentTo", source="DOID:0070008"}
xref: UMLS:C4310647 {source="MEDGEN:934614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019342 {source="DC-OMIM:617253", source="DOID:0070008", source="MONDO:Redundant", source="OMIM:617253"} ! Seckel syndrome
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
intersection_of: MONDO:0019342 ! Seckel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26513 ! NSMCE2
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617253"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26513 {source="MONDO:mim2gene_medgen"} ! NSMCE2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0014992
name: lissencephaly 8
def: "Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LIS8" EXACT ABBREVIATION [OMIM:617255]
synonym: "lissencephaly (disease) caused by mutation in TMTC3" EXACT []
synonym: "lissencephaly 8" EXACT [OMIM:617255]
synonym: "lissencephaly 8; LIS8" EXACT []
synonym: "lissencephaly type 8" EXACT [MONDORULE:1, OMIM:617255]
synonym: "TMTC3 lissencephaly (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0112233 {source="MONDO:equivalentTo"}
xref: MEDGEN:934613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617255 {source="MONDO:equivalentTo"}
xref: UMLS:C4310646 {source="MEDGEN:934613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018838 {source="DC-OMIM:617255", source="MONDO:Redundant", source="OMIM:617255"} ! lissencephaly spectrum disorders
intersection_of: MONDO:0018838 ! lissencephaly spectrum disorders
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26899 ! TMTC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26899 {source="MONDO:mim2gene_medgen"} ! TMTC3

[Term]
id: MONDO:0014993
name: myofibrillar myopathy 8
def: "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MFM8" RELATED ABBREVIATION [OMIM:617258]
synonym: "myofibrillar myopathy (disease) caused by mutation in PYROXD1" EXACT []
synonym: "myofibrillar myopathy 8" EXACT CLINGEN_LABEL []
synonym: "myopathy, myofibrillar, 8" EXACT [OMIM:617258]
synonym: "myopathy, myofibrillar, type 8" EXACT [MONDORULE:1, OMIM:617258]
synonym: "PYROXD1 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0080308 {source="MONDO:equivalentTo"}
xref: MEDGEN:934612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617258 {source="MONDO:equivalentTo", source="DOID:0080308"}
xref: UMLS:C4310645 {source="MEDGEN:934612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:617258"} ! myofibrillar myopathy
intersection_of: MONDO:0018943 ! myofibrillar myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26162 ! PYROXD1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26162 {source="MONDO:mim2gene_medgen"} ! PYROXD1

[Term]
id: MONDO:0014994
name: global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
subset: otar {source="MONDO:OTAR"}
synonym: "GDACCF" EXACT ABBREVIATION [OMIM:617260]
synonym: "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" EXACT [OMIM:617260]
synonym: "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF" EXACT []
xref: MEDGEN:934611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617260 {source="MONDO:equivalentTo"}
xref: UMLS:C4310644 {source="MEDGEN:934611", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12933 {source="MONDO:mim2gene_medgen"} ! ZNF148

[Term]
id: MONDO:0014995
name: neurodevelopmental disorder with hypotonia, seizures, and absent language
subset: otar {source="MONDO:OTAR"}
synonym: "NDHSAL" EXACT ABBREVIATION [OMIM:617268]
synonym: "neurodevelopmental disorder with hypotonia, seizures, and absent language" EXACT [OMIM:617268]
synonym: "neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL" EXACT []
xref: MEDGEN:934610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617268 {source="MONDO:equivalentTo"}
xref: UMLS:C4310643 {source="MEDGEN:934610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29853 {source="MONDO:mim2gene_medgen"} ! HECW2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0014996
name: intellectual disability, autosomal recessive 58
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive intellectual disability 58" RELATED [GARD:0013361]
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2" EXACT [MONDO:design_pattern]
synonym: "ELP2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ELP2-related disorder" RELATED [GARD:0013361]
synonym: "intellectual developmental disorder, autosomal recessive 58" EXACT [OMIM:617270, OMIM:genemap2]
synonym: "intellectual disability, autosomal recessive 58" EXACT [OMIM:617270]
synonym: "intellectual disability, autosomal recessive type 58" EXACT [MONDORULE:2, OMIM:617270]
synonym: "mental retardation, autosomal recessive 58" EXACT DEPRECATED [OMIM:617270]
synonym: "mental retardation, autosomal recessive type 58" EXACT DEPRECATED [MONDORULE:2, OMIM:617270]
synonym: "MRT58" EXACT ABBREVIATION [OMIM:617270]
xref: DOID:0081220 {source="MONDO:equivalentTo"}
xref: GARD:13361 {source="MONDO:GARD"}
xref: MEDGEN:934608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617270 {source="MONDO:equivalentTo"}
xref: UMLS:C4310641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934608"}
is_a: MONDO:0019502 {source="DC-OMIM:617270", source="MONDO:Redundant", source="OMIM:617270"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18248 ! ELP2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18248 {source="MONDO:mim2gene_medgen"} ! ELP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0014997
name: nephronophthisis 20
def: "Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MAPKBP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "nephronophthisis (disease) caused by mutation in MAPKBP1" EXACT []
synonym: "nephronophthisis 20" EXACT CLINGEN_LABEL [OMIM:617271]
synonym: "nephronophthisis type 20" EXACT [DOID:0111127, MONDORULE:2, OMIM:617271]
synonym: "NPHP20" EXACT ABBREVIATION [DOID:0111127, OMIM:617271]
xref: DOID:0111127 {source="MONDO:equivalentTo"}
xref: GARD:18181 {source="MONDO:GARD"}
xref: MEDGEN:934607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617271 {source="DOID:0111127", source="MONDO:equivalentTo"}
xref: UMLS:C4310640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934607"}
is_a: MONDO:0019005 {source="DC-OMIM:617271", source="DOID:0111127", source="MONDO:Redundant", source="OMIM:617271"} ! nephronophthisis
intersection_of: MONDO:0019005 ! nephronophthisis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29536 ! MAPKBP1
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617271"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29536 {source="MONDO:mim2gene_medgen"} ! MAPKBP1

[Term]
id: MONDO:0014998
name: glaucoma 3, primary congenital, E
subset: gard_rare {source="GARD:18227", source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 3, primary congenital, E" EXACT [OMIM:617272]
synonym: "glaucoma 3, primary congenital, E; GLC3E" EXACT []
synonym: "glaucoma 3, primary congenital, type E" EXACT [MONDORULE:1, OMIM:617272]
synonym: "GLC3E" EXACT ABBREVIATION [OMIM:617272]
xref: GARD:18227 {source="MONDO:GARD"}
xref: MEDGEN:934606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617272 {source="MONDO:equivalentTo"}
xref: UMLS:C4310639 {source="MEDGEN:934606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020366 ! congenital glaucoma
is_a: MONDO:0800182 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! TEK-related primary glaucoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11724 {source="MONDO:mim2gene_medgen"} ! TEK

[Term]
id: MONDO:0014999
name: tooth agenesis, selective, 9
def: "Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "GREM2 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "STHAG9" EXACT ABBREVIATION [OMIM:617275]
synonym: "tooth agenesis caused by mutation in GREM2" EXACT [MONDO:design_pattern]
synonym: "tooth agenesis, selective, 9" EXACT [OMIM:617275]
synonym: "tooth agenesis, selective, 9; STHAG9" EXACT []
synonym: "tooth agenesis, selective, type 9" EXACT [MONDORULE:1, OMIM:617275]
xref: MEDGEN:934605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617275 {source="MONDO:equivalentTo"}
xref: UMLS:C4310638 {source="MONDO:equivalentTo", source="MEDGEN:934605", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005486 {source="DC-OMIM:617275", source="MONDO:Redundant", source="OMIM:617275"} ! tooth agenesis
intersection_of: MONDO:0005486 ! tooth agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17655 ! GREM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17655 {source="MONDO:mim2gene_medgen"} ! GREM2

[Term]
id: MONDO:0015000
name: developmental and epileptic encephalopathy, 48
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AP3B2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "DEE48" EXACT ABBREVIATION [OMIM:617276]
synonym: "developmental and epileptic encephalopathy 48" EXACT [OMIM:617276, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in AP3B2" EXACT [MONDO:design_pattern]
synonym: "EIEE48" EXACT ABBREVIATION [OMIM:617276]
synonym: "epileptic encephalopathy, early infantile, 48" EXACT [OMIM:617276]
synonym: "epileptic encephalopathy, early infantile, 48; EIEE48" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 48" EXACT [MONDORULE:2, OMIM:617276]
xref: DOID:0080448 {source="MONDO:equivalentTo"}
xref: GARD:16218 {source="MONDO:GARD"}
xref: MEDGEN:934604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617276 {source="MONDO:equivalentTo"}
xref: UMLS:C4310637 {source="MEDGEN:934604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DC-OMIM:617276", source="MONDO:Redundant", source="OMIM:617276"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/567 ! AP3B2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/567 {source="MONDO:mim2gene_medgen"} ! AP3B2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0015001
name: atrial fibrillation, familial, 18
def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16219", source="MONDO:GARD"}
subset: rare
synonym: "ATFB18" EXACT ABBREVIATION [OMIM:617280]
synonym: "atrial fibrillation, familial, 18" EXACT [OMIM:617280]
synonym: "atrial fibrillation, familial, 18; ATFB18" EXACT []
synonym: "atrial fibrillation, familial, type 18" EXACT [MONDORULE:2, OMIM:617280]
synonym: "familial atrial fibrillation caused by mutation in MYL4" EXACT [MONDO:design_pattern]
synonym: "MYL4 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:16219 {source="MONDO:GARD"}
xref: MEDGEN:934603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617280 {source="MONDO:equivalentTo"}
xref: UMLS:C4310636 {source="MEDGEN:934603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="DC-OMIM:617280", source="MONDO:Redundant", source="OMIM:617280"} ! familial atrial fibrillation
intersection_of: MONDO:0018054 ! familial atrial fibrillation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7585 ! MYL4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7585 {source="MONDO:mim2gene_medgen"} ! MYL4

[Term]
id: MONDO:0015002
name: developmental and epileptic encephalopathy, 49
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE49" EXACT ABBREVIATION [OMIM:617281]
synonym: "DENND5A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "developmental and epileptic encephalopathy 49" EXACT [OMIM:617281, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in DENND5A" EXACT [MONDO:design_pattern]
synonym: "EIEE49" EXACT ABBREVIATION [OMIM:617281]
synonym: "epileptic encephalopathy, early infantile, 49" EXACT [OMIM:617281]
synonym: "epileptic encephalopathy, early infantile, 49; EIEE49" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 49" EXACT [MONDORULE:2, OMIM:617281]
xref: DOID:0080441 {source="MONDO:equivalentTo"}
xref: MEDGEN:934602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617281 {source="MONDO:equivalentTo"}
xref: UMLS:C4310635 {source="MEDGEN:934602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DC-OMIM:617281", source="MONDO:Redundant", source="OMIM:617281"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19344 ! DENND5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19344 {source="MONDO:mim2gene_medgen"} ! DENND5A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0015003
name: dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
subset: gard_rare {source="GARD:13488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508093"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:508093"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 29, childhood-onset" RELATED [OMIM:617282]
synonym: "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" EXACT [OMIM:617282]
synonym: "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG" EXACT []
synonym: "DYTOABG" EXACT ABBREVIATION [OMIM:617282]
xref: DOID:0081419 {source="MONDO:equivalentTo"}
xref: GARD:13488 {source="MONDO:GARD"}
xref: MEDGEN:934601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617282 {source="MONDO:equivalentTo", source="Orphanet:508093"}
xref: Orphanet:508093 {source="MONDO:equivalentTo"}
xref: UMLS:C4310634 {source="MEDGEN:934601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018424 {source="Orphanet:508093"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0024237 {source="Orphanet:508093"} ! inherited neurodegenerative disorder
is_a: MONDO:0044807 {source="OMIM:617282"} ! inherited dystonia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19691 {source="MONDO:mim2gene_medgen", source="Orphanet:508093"} ! MECR

[Term]
id: MONDO:0015004
name: dystonia 28, childhood-onset
def: "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:22359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589618"}
subset: orphanet_rare {source="Orphanet:589618"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 28, childhood-onset" EXACT CLINGEN_LABEL [OMIM:617284]
synonym: "dystonia 28, childhood-onset; DYT28" EXACT []
synonym: "dystonic disorder caused by mutation in KMT2B" EXACT [MONDO:design_pattern]
synonym: "DYT28" EXACT ABBREVIATION [OMIM:617284]
synonym: "KMT2B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060936 {source="MONDO:equivalentTo"}
xref: EFO:0009301 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22359 {source="MONDO:GARD"}
xref: MEDGEN:934600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617284 {source="MONDO:equivalentTo"}
xref: Orphanet:589618 {source="MONDO:equivalentTo"}
xref: UMLS:C4310633 {source="MEDGEN:934600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0044807 {source="DC-OMIM:617284", source="OMIM:617284"} ! inherited dystonia
intersection_of: MONDO:0044807 ! inherited dystonia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15840 ! KMT2B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15840 {source="MONDO:mim2gene_medgen"} ! KMT2B

[Term]
id: MONDO:0015005
name: epilepsy, early-onset, vitamin B6-dependent
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epilepsy, early-onset, vitamin B6-dependent" EXACT [OMIM:617290]
synonym: "epilepsy, early-onset, vitamin B6-dependent; EPVB6D" EXACT []
synonym: "EPVB6D" EXACT ABBREVIATION [OMIM:617290]
xref: DOID:0080769 {source="MONDO:equivalentTo"}
xref: MEDGEN:934599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617290 {source="MONDO:equivalentTo"}
xref: UMLS:C4310632 {source="MEDGEN:934599", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009945 ! pyridoxine-dependent epilepsy
is_a: MONDO:0957599 {source="OMIM:617290"} ! epilepsy, early-onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9457 {source="MONDO:mim2gene_medgen"} ! PLPBP

[Term]
id: MONDO:0015006
name: epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
subset: gard_rare {source="GARD:17951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508529"}
subset: orphanet_rare {source="Orphanet:508529"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBSSH" EXACT ABBREVIATION [OMIM:617294]
synonym: "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" EXACT [OMIM:617294, OMIM:genemap2]
synonym: "epidermolysis bullosa simplex, generalized, with scarring and hair loss" EXACT [OMIM:617294]
synonym: "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH" EXACT []
synonym: "generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" EXACT OMO:0003005 []
synonym: "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" EXACT [OMIM:617294]
xref: GARD:17951 {source="MONDO:GARD"}
xref: MEDGEN:934598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617294 {source="Orphanet:508529", source="MONDO:equivalentTo"}
xref: Orphanet:508529 {source="MONDO:equivalentTo"}
xref: UMLS:C4310631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934598"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex
intersection_of: MONDO:0017610 ! epidermolysis bullosa simplex
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25947 ! KLHL24
relationship: has_characteristic HP:0000006 {source="Orphanet:508529"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25947 {source="MONDO:mim2gene_medgen", source="Orphanet:508529"} ! KLHL24
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0015007
name: spastic paraplegia, intellectual disability, nystagmus, and obesity
subset: gard_rare {source="GARD:17957", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521390"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:521390"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SINO" RELATED ABBREVIATION [OMIM:617296]
synonym: "spastic paraplegia, intellectual disability, nystagmus, and obesity" EXACT [OMIM:617296]
xref: GARD:17957 {source="MONDO:GARD"}
xref: MEDGEN:924883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617296 {source="MONDO:equivalentTo", source="Orphanet:521390"}
xref: Orphanet:521390 {source="MONDO:equivalentTo"}
xref: UMLS:C4284592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924883"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015087 {source="Orphanet:521390"} ! autosomal dominant complex spastic paraplegia
relationship: has_characteristic HP:0000006 {source="Orphanet:521390"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29508 {source="MONDO:mim2gene_medgen", source="Orphanet:521390"} ! KIDINS220

[Term]
id: MONDO:0015008
name: amelogenesis imperfecta, type 1J
subset: gard_rare {source="GARD:16220", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AI1J" RELATED ABBREVIATION [OMIM:617297]
synonym: "amelogenesis imperfecta, type 1J" EXACT [OMIM:617297]
synonym: "amelogenesis imperfecta, type Ij" EXACT [OMIM:617297]
xref: DOID:0080953 {source="MONDO:equivalentTo"}
xref: EFO:0009302 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16220 {source="MONDO:GARD"}
xref: MEDGEN:934597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617297 {source="MONDO:equivalentTo"}
xref: UMLS:C4310630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934597"}
is_a: MONDO:0015047 ! amelogenesis imperfecta type 1
is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:617297"} ! amelogenesis imperfecta
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14376 {source="MONDO:mim2gene_medgen"} ! ACP4

[Term]
id: MONDO:0015009
name: lymphatic malformation 7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "HFASD" EXACT ABBREVIATION [OMIM:617300]
synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to" EXACT [OMIM:617300]
synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD" EXACT []
xref: MEDGEN:934596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617300 {source="MONDO:equivalentTo"}
xref: UMLS:C4310629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934596"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019313 {source="OMIM:617300"} ! lymphatic malformation
is_a: MONDO:0700080 {source="https://www.clinicalgenome.org/affiliation/40106/"} ! EPHB4-associated vascular malformation spectrum
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3395 {source="MONDO:mim2gene_medgen"} ! EPHB4

[Term]
id: MONDO:0015010
name: atypical glycine encephalopathy
def: "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." [Orphanet:289863]
subset: gard_rare {source="GARD:17334", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:289863"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical NKA" EXACT [Orphanet:289863]
synonym: "atypical non-ketotic hyperglycinemia" EXACT [Orphanet:289863]
synonym: "GLYCINE encephalopathy with normal serum GLYCINE" RELATED [OMIM:617301]
synonym: "Glycine encephalopathy with normal serum Glycine" RELATED [OMIM:617301]
xref: GARD:17334 {source="MONDO:GARD"}
xref: ICD10CM:E72.5 {source="Orphanet:289863/attributed", source="Orphanet:289863/ntbt", source="Orphanet:289863"}
xref: MEDGEN:934910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617301 {source="Orphanet:289863", source="MONDO:equivalentTo"}
xref: Orphanet:289863 {source="MONDO:equivalentTo"}
xref: UMLS:C4310943 {source="MEDGEN:934910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011612 {source="Orphanet:289863"} ! glycine encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11056 {source="MONDO:mim2gene_medgen"} ! SLC6A9

[Term]
id: MONDO:0015011
name: optic atrophy 11
def: "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive isolated optic atrophy caused by mutation in YME1L1" EXACT [MONDO:design_pattern]
synonym: "OPA11" EXACT ABBREVIATION [OMIM:617302]
synonym: "optic atrophy 11" EXACT [OMIM:617302]
synonym: "optic atrophy type 11" EXACT [MONDORULE:2, OMIM:617302]
synonym: "YME1L1 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111436 {source="MONDO:equivalentTo"}
xref: GARD:18201 {source="MONDO:GARD"}
xref: MEDGEN:934595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617302 {source="MONDO:equivalentTo"}
xref: UMLS:C4310628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934595"}
is_a: MONDO:0043878 {source="MONDO:Redundant", source="OMIM:617302"} ! hereditary optic atrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12843 {source="MONDO:mim2gene_medgen"} ! YME1L1

[Term]
id: MONDO:0015012
name: mucopolysaccharidosis-plus syndrome
subset: gard_rare {source="GARD:17944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:505248"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:505248"}
subset: rare
synonym: "MPSPS" EXACT ABBREVIATION [OMIM:617303]
synonym: "mucopolysaccharidosis-like plus disease" EXACT [Orphanet:505248]
synonym: "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders" EXACT [Orphanet:505248]
synonym: "mucopolysaccharidosis-plus syndrome" EXACT CLINGEN_LABEL [OMIM:617303, PMID:31070736, PMID:31936524, PMID:35327996, PMID:36153662, PMID:36232726, PMID:37628632]
xref: GARD:17944 {source="MONDO:GARD"}
xref: MEDGEN:934594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617303 {source="MONDO:equivalentTo", source="Orphanet:505248"}
xref: Orphanet:505248 {source="MONDO:equivalentTo"}
xref: UMLS:C4310627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934594"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:505248"} ! respiratory system disorder
is_a: MONDO:0015159 {source="Orphanet:505248"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100365 {source="https://orcid.org/0000-0001-5208-3432"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505248", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019249 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! mucopolysaccharidosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015510", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18179 {source="MONDO:mim2gene_medgen"} ! VPS33A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6838" xsd:anyURI

[Term]
id: MONDO:0015013
name: retinitis pigmentosa 77
def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "REEP6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "retinitis pigmentosa 77" EXACT [OMIM:617304]
synonym: "retinitis pigmentosa caused by mutation in REEP6" EXACT [MONDO:design_pattern]
synonym: "retinitis pigmentosa type 77" EXACT [MONDORULE:2, OMIM:617304]
synonym: "RP77" RELATED ABBREVIATION [OMIM:617304]
xref: DOID:0080350 {source="MONDO:equivalentTo"}
xref: GARD:16221 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="DOID:0080350"}
xref: MEDGEN:934593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617304 {source="DOID:0080350", source="MONDO:equivalentTo"}
xref: UMLS:C4310626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934593"}
is_a: MONDO:0019200 {source="DC-OMIM:617304", source="DOID:0080350", source="MONDO:Redundant", source="OMIM:617304"} ! retinitis pigmentosa
intersection_of: MONDO:0019200 ! retinitis pigmentosa
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30078 ! REEP6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30078 {source="MONDO:mim2gene_medgen"} ! REEP6

[Term]
id: MONDO:0015014
name: coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
subset: gard_rare {source="GARD:18021", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:603494"}
subset: orphanet_rare {source="Orphanet:603494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" EXACT [OMIM:617306]
synonym: "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD" EXACT []
synonym: "COMMAD" EXACT ABBREVIATION [OMIM:617306]
synonym: "COMMAD syndrome" EXACT [OMIM:617306, OMIM:genemap2]
xref: GARD:18021 {source="MONDO:GARD"}
xref: MEDGEN:934592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617306 {source="MONDO:equivalentTo"}
xref: Orphanet:603494 {source="MONDO:equivalentTo"}
xref: UMLS:C4310625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934592"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0015015
name: congenital bile acid synthesis defect 6
def: "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACOX2 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "bile acid synthesis defect, congenital, 6" EXACT [OMIM:617308]
synonym: "bile acid synthesis defect, congenital, type 6" EXACT [MONDORULE:1, OMIM:617308]
synonym: "CBAS6" EXACT ABBREVIATION [DOID:0111067, OMIM:617308]
synonym: "congenital bile acid synthesis defect caused by mutation in ACOX2" EXACT [MONDO:design_pattern]
synonym: "congenital bile acid synthesis defect type 6" EXACT [DOID:0111067, MONDORULE:1]
xref: DOID:0111067 {source="MONDO:equivalentTo"}
xref: MEDGEN:934591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617308 {source="MONDO:equivalentTo", source="DOID:0111067"}
xref: UMLS:C4310624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934591"}
is_a: MONDO:0018841 {source="DC-OMIM:617308", source="DOID:0111067", source="MONDO:Redundant", source="OMIM:617308"} ! congenital bile acid synthesis defect
intersection_of: MONDO:0018841 ! congenital bile acid synthesis defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/120 ! ACOX2
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/120 {source="MONDO:mim2gene_medgen"} ! ACOX2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015016
name: anterior segment dysgenesis 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anterior segment dysgenesis 6" EXACT [OMIM:617315]
synonym: "anterior segment dysgenesis 6, multiple subtypes" EXACT [OMIM:617315, OMIM:genemap2]
synonym: "anterior segment dysgenesis type 6" EXACT [MONDORULE:1, OMIM:617315]
synonym: "ASGD6" EXACT ABBREVIATION [OMIM:617315]
xref: DOID:0080611 {source="MONDO:equivalentTo"}
xref: MEDGEN:934590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617315 {source="MONDO:equivalentTo"}
xref: UMLS:C4310623 {source="MEDGEN:934590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019503 {source="DC-OMIM:617315", source="OMIM:617315"} ! anterior segment dysgenesis
is_a: MONDO:0800472 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! CYP1B1-related glaucoma with or without anterior segment dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2597 {source="MONDO:mim2gene_medgen"} ! CYP1B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6783" xsd:anyURI

[Term]
id: MONDO:0015017
name: anterior segment dysgenesis 8
def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17954", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519388"}
subset: orphanet_rare {source="Orphanet:519388"}
subset: rare
synonym: "anterior segment dysgenesis 8" EXACT [OMIM:617319]
synonym: "anterior segment dysgenesis caused by mutation in CPAMD8" EXACT [MONDO:design_pattern]
synonym: "anterior segment dysgenesis type 8" EXACT [MONDORULE:1, OMIM:617319]
synonym: "ASGD8" EXACT ABBREVIATION [OMIM:617319]
synonym: "CPAMD8 anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CPAMD8-related anterior segment dysgenesis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/]
xref: DOID:0080613 {source="MONDO:equivalentTo"}
xref: GARD:17954 {source="MONDO:GARD"}
xref: MEDGEN:934589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617319 {source="MONDO:equivalentTo"}
xref: Orphanet:519388 {source="MONDO:equivalentTo"}
xref: UMLS:C4310622 {source="MEDGEN:934589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019503 {source="DC-OMIM:617319", source="MONDO:Redundant", source="OMIM:617319"} ! anterior segment dysgenesis
intersection_of: MONDO:0019503 ! anterior segment dysgenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23228 ! CPAMD8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23228 {source="MONDO:mim2gene_medgen"} ! CPAMD8

[Term]
id: MONDO:0015018
name: ichthyosis, congenital, autosomal recessive 12
def: "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI12" EXACT ABBREVIATION [OMIM:617320]
synonym: "ichthyosis, congenital, autosomal recessive 12" EXACT [OMIM:617320]
synonym: "ichthyosis, congenital, autosomal recessive 12; ARCI12" EXACT []
synonym: "ichthyosis, congenital, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:617320]
xref: MEDGEN:934588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617320 {source="MONDO:equivalentTo"}
xref: UMLS:C4310621 {source="MEDGEN:934588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="DC-OMIM:617320", source="MONDO:Redundant", source="OMIM:617320"} ! autosomal recessive congenital ichthyosis
intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1502 ! CASP14
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1502 {source="MONDO:mim2gene_medgen"} ! CASP14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015019
name: Yao syndrome
def: "An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants." [OMIM:617321]
comment: OMIM reports there is evidence that susceptibility to Yao syndrome (YAOS) is conferred by variation in the NOD2 gene on chromosome 16q12.
subset: otar {source="MONDO:OTAR"}
subset: predisposition
synonym: "Yao syndrome" EXACT [OMIM:617321]
synonym: "YAOS" EXACT ABBREVIATION [OMIM:617321]
xref: MEDGEN:934587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617321 {source="MONDO:equivalentTo"}
xref: SCTID:768667002 {source="MONDO:equivalentTo"}
xref: UMLS:C4310620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934587"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5331 {source="MONDO:mim2gene_medgen"} ! NOD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0015020
name: intellectual disability, autosomal recessive 59
def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1" EXACT [MONDO:design_pattern]
synonym: "IMPA1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "intellectual disability, autosomal recessive 59" EXACT [OMIM:617323]
synonym: "intellectual disability, autosomal recessive type 59" EXACT [MONDORULE:2, OMIM:617323]
synonym: "mental retardation, autosomal recessive 59" EXACT DEPRECATED [OMIM:617323]
synonym: "mental retardation, autosomal recessive type 59" EXACT DEPRECATED [MONDORULE:2, OMIM:617323]
synonym: "MRT59" EXACT ABBREVIATION [OMIM:617323]
xref: DOID:0081221 {source="MONDO:equivalentTo"}
xref: MEDGEN:934586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617323 {source="MONDO:equivalentTo"}
xref: UMLS:C4310619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934586"}
is_a: MONDO:0019502 {source="DC-OMIM:617323", source="MONDO:Redundant", source="OMIM:617323"} ! autosomal recessive non-syndromic intellectual disability
intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6050 ! IMPA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6050 {source="MONDO:mim2gene_medgen"} ! IMPA1

[Term]
id: MONDO:0015021
name: hypotonia, ataxia, and delayed development syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658843"}
subset: orphanet_rare {source="Orphanet:658843"}
subset: rare
synonym: "HADDS" EXACT ABBREVIATION [OMIM:617330]
synonym: "hypotonia, ataxia, and delayed development syndrome" EXACT [OMIM:617330]
synonym: "hypotonia, ataxia, and delayed development syndrome; HADDS" EXACT []
xref: DOID:0081176 {source="MONDO:equivalentTo"}
xref: MEDGEN:934585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617330 {source="MONDO:equivalentTo"}
xref: Orphanet:658843 {source="MONDO:equivalentTo"}
xref: UMLS:C4310618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934585"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:658843"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19087 {source="MONDO:mim2gene_medgen"} ! EBF3

[Term]
id: MONDO:0015022
name: intellectual developmental disorder with dysmorphic facies and ptosis
synonym: "IDDDFP" EXACT ABBREVIATION [OMIM:617333]
synonym: "intellectual developmental disorder with dysmorphic facies and ptosis" EXACT [OMIM:617333]
synonym: "intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP" EXACT []
xref: MEDGEN:934584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617333 {source="MONDO:equivalentTo"}
xref: UMLS:C4310617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934584"}
is_a: MONDO:0000508 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! syndromic intellectual disability
is_a: MONDO:0003847 {source="EFO:0009070", source="OMIM:617333"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14255 {source="MONDO:mim2gene_medgen"} ! BRPF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6022" xsd:anyURI

[Term]
id: MONDO:0015023
name: MYPN-related myopathy
def: "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions." [https://clinicalgenome.org/affiliation/40031/, PMID:28017374]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16222", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MYPN nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MYPN-related myopathy" EXACT CLINGEN_LABEL []
synonym: "NEM11" EXACT ABBREVIATION [DOID:0110933, OMIM:617336]
synonym: "nemaline myopathy 11" EXACT [https://clinicalgenome.org/affiliation/40031/]
synonym: "nemaline myopathy 11, autosomal recessive" EXACT [DOID:0110933, OMIM:617336]
synonym: "nemaline myopathy caused by mutation in MYPN" EXACT [MONDO:design_pattern]
synonym: "nemaline myopathy type 11" EXACT [DOID:0110933, MONDORULE:2]
xref: DOID:0110933 {source="MONDO:equivalentTo"}
xref: GARD:16222 {source="MONDO:GARD"}
xref: MEDGEN:1384302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617336 {source="DOID:0110933", source="MONDO:equivalentTo"}
xref: UMLS:C4479186 {source="MEDGEN:1384302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018958 {source="DC-OMIM:617336", source="DOID:0110933", source="MONDO:Redundant", source="OMIM:617336"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 ! MYPN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 {source="MONDO:mim2gene_medgen"} ! MYPN

[Term]
id: MONDO:0015024
name: ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
def: "Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD12" EXACT ABBREVIATION [OMIM:617337]
synonym: "ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type" EXACT [OMIM:617337]
synonym: "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12" EXACT []
synonym: "ectodermal dysplasia syndrome caused by mutation in KDF1" EXACT [MONDO:design_pattern]
synonym: "KDF1 ectodermal dysplasia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111652 {source="MONDO:equivalentTo"}
xref: GARD:18593 {source="MONDO:GARD"}
xref: MEDGEN:934583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617337 {source="MONDO:equivalentTo"}
xref: UMLS:C4310616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934583"}
is_a: MONDO:0019287 {source="DC-OMIM:617337", source="MONDO:Redundant", source="OMIM:617337"} ! ectodermal dysplasia syndrome
intersection_of: MONDO:0019287 ! ectodermal dysplasia syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26624 ! KDF1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26624 {source="MONDO:mim2gene_medgen"} ! KDF1

[Term]
id: MONDO:0015025
name: developmental and epileptic encephalopathy, 51
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE51" EXACT ABBREVIATION [OMIM:617339]
synonym: "developmental and epileptic encephalopathy 51" EXACT [OMIM:617339, OMIM:genemap2]
synonym: "early infantile epileptic encephalopathy caused by mutation in MDH2" EXACT [MONDO:design_pattern]
synonym: "EIEE51" EXACT ABBREVIATION [OMIM:617339]
synonym: "epileptic encephalopathy, early infantile, 51" EXACT [OMIM:617339]
synonym: "epileptic encephalopathy, early infantile, 51; EIEE51" EXACT []
synonym: "epileptic encephalopathy, early infantile, type 51" EXACT [MONDORULE:2, OMIM:617339]
synonym: "MDH2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080433 {source="MONDO:equivalentTo"}
xref: MEDGEN:1372686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617339 {source="MONDO:equivalentTo"}
xref: UMLS:C4479208 {source="MEDGEN:1372686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DC-OMIM:617339", source="MONDO:Redundant", source="OMIM:617339"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6971 ! MDH2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6971 {source="MONDO:mim2gene_medgen"} ! MDH2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0015026
name: cerebroretinal microangiopathy with calcifications and cysts 2
def: "Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebroretinal microangiopathy with calcifications and cysts 2" EXACT [OMIM:617341]
synonym: "cerebroretinal microangiopathy with calcifications and cysts type 2" EXACT [MONDORULE:4, OMIM:617341]
synonym: "Coats plus syndrome caused by mutation in STN1" EXACT [MONDO:design_pattern]
synonym: "CRMCC2" RELATED ABBREVIATION [OMIM:617341]
synonym: "STN1 Coats plus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18442 {source="MONDO:GARD"}
xref: MEDGEN:1390862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617341 {source="MONDO:equivalentTo"}
xref: UMLS:C4479220 {source="MEDGEN:1390862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012815 {source="MONDO:Redundant", source="OMIM:617341"} ! Coats plus syndrome
intersection_of: MONDO:0012815 ! Coats plus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26200 ! STN1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26200 {source="MONDO:mim2gene_medgen"} ! STN1

[Term]
id: MONDO:0015027
name: familial isolated hyperparathyroidism
def: "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors." [NCIT:C94830]
subset: gard_rare {source="GARD:16923", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99879"}
subset: orphanet_rare {source="Orphanet:99879"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial isolated hyperparathyroidism" EXACT [NCIT:C94830]
synonym: "FIHP" EXACT ABBREVIATION [NCIT:C94830]
synonym: "FIHPT" EXACT ABBREVIATION [Orphanet:99879]
xref: GARD:16923 {source="MONDO:GARD"}
xref: ICD10CM:E21.0 {source="Orphanet:99879", source="Orphanet:99879/attributed", source="Orphanet:99879/ntbt"}
xref: MEDGEN:1643161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C94830 {source="MONDO:equivalentTo"}
xref: Orphanet:99879 {source="MONDO:equivalentTo"}
xref: UMLS:C4551961 {source="MEDGEN:1643161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001741 {source="MONDO:Redundant", source="OMIM:617343"} ! hyperparathyroidism
is_a: MONDO:0015356 {source="NCIT:C94830"} ! hereditary neoplastic syndrome
is_a: MONDO:0016365 {source="Orphanet:99879"} ! familial primary hyperparathyroidism

[Term]
id: MONDO:0015028
name: 48,XXYY syndrome
def: "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." [Orphanet:10]
subset: gard_rare {source="GARD:5677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2038"}
subset: ordo_disorder {source="Orphanet:10"}
subset: ordo_malformation_syndrome {source="Orphanet:10"}
subset: orphanet_rare {source="Orphanet:10"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "48, XXYY Syndrome" EXACT [NORD:2038]
synonym: "48, XXYY syndrome" EXACT [NCIT:C89801]
synonym: "48,XXYY Klinefelter syndrome" RELATED [GARD:0005677]
synonym: "48,XXYY variant of Klinefelter's syndrome" RELATED [GARD:0005677]
synonym: "XXYY syndrome" RELATED [GARD:0005677]
xref: GARD:5677 {source="MONDO:GARD"}
xref: ICD10CM:Q98.8 {source="Orphanet:10", source="Orphanet:10/attributed", source="Orphanet:10/ntbt"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048230 {source="Orphanet:10", source="Orphanet:10/e"}
xref: MEDGEN:422434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C89801 {source="MONDO:equivalentTo"}
xref: NORD:2038 {source="MONDO:NORD"}
xref: Orphanet:10 {source="MONDO:equivalentTo"}
xref: SCTID:403760006 {source="MONDO:equivalentTo"}
xref: UMLS:C2936741 {source="MONDO:equivalentTo", source="MEDGEN:422434", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C89801"} ! syndromic disease
is_a: MONDO:0017975 {source="Orphanet:10"} ! sex chromosome disorder of sex development
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome" xsd:anyURI {source="GARD:0005677"}

[Term]
id: MONDO:0015029
name: reticular perineurioma
subset: gard_rare {source="GARD:19728", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100000"}
subset: rare
xref: GARD:19728 {source="MONDO:GARD"}
xref: MEDGEN:1842718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100000 {source="MONDO:equivalentTo"}
xref: UMLS:C5681810 {source="MEDGEN:1842718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015031 {source="Orphanet:100000"} ! extraneural perineurioma

[Term]
id: MONDO:0015030
name: sclerosing perineurioma
subset: gard_rare {source="GARD:19729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100001"}
subset: rare
xref: GARD:19729 {source="MONDO:GARD"}
xref: MEDGEN:1843336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100001 {source="MONDO:equivalentTo"}
xref: UMLS:C5681811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843336"}
is_a: MONDO:0015031 {source="Orphanet:100001"} ! extraneural perineurioma

[Term]
id: MONDO:0015031
name: extraneural perineurioma
def: "Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization." [Orphanet:100002]
subset: gard_rare {source="GARD:19730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100002"}
subset: orphanet_rare {source="Orphanet:100002"}
subset: rare
synonym: "soft tissue perineurioma" EXACT [Orphanet:100002]
xref: GARD:19730 {source="MONDO:GARD"}
xref: MEDGEN:1643216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6912 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: Orphanet:100002 {source="MONDO:equivalentTo"}
xref: SCTID:768926005 {source="MONDO:equivalentTo"}
xref: UMLS:C4708595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643216"}
is_a: MONDO:0019404 {source="Orphanet:100002"} ! perineurioma

[Term]
id: MONDO:0015032
name: intraneural perineurioma
def: "A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells." [NCIT:P378]
subset: gard_rare {source="GARD:10921", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100003"}
subset: orphanet_rare {source="Orphanet:100003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intraneural perineurioma" EXACT [DOID:4696, NCIT:C6911]
synonym: "intraneural perineurioma (WHO grade I)" EXACT [NCIT:C6911]
xref: DOID:4696 {source="MONDO:equivalentTo"}
xref: GARD:10921 {source="MONDO:GARD"}
xref: MEDGEN:237162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6911 {source="DOID:4696", source="MONDO:equivalentTo"}
xref: Orphanet:100003 {source="MONDO:equivalentTo"}
xref: SCTID:128795001 {source="DOID:4696"}
xref: SCTID:768934004 {source="MONDO:equivalentTo"}
xref: UMLS:C1370658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237162"}
is_a: MONDO:0001406 {source="DOID:4696/inferred", source="MONDO:Redundant", source="NCIT:C6911"} ! peripheral nervous system neoplasm
is_a: MONDO:0019404 {source="DOID:4696", source="NCIT:C6911", source="Orphanet:100003"} ! perineurioma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma" xsd:anyURI {source="GARD:0010921"}

[Term]
id: MONDO:0015033
name: ABeta amyloidosis, dutch type
def: "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." [Orphanet:100006]
subset: gard_rare {source="GARD:16929", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100006"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABetaE22Q amyloidosis" EXACT [Orphanet:100006]
synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" EXACT [DOID:0070028]
synonym: "HCHWA, Dutch type" EXACT [Orphanet:100006]
synonym: "HCHWA-D" EXACT [Orphanet:100006]
synonym: "hereditary cerebral haemorrhage with amyloidosis, Dutch type" EXACT OMO:0003005 []
synonym: "hereditary cerebral hemorrhage with amyloidosis, Dutch type" EXACT [Orphanet:100006]
xref: GARD:16929 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:100006", source="Orphanet:100006/attributed", source="Orphanet:100006/ntbt"}
xref: ICD10EXP:I68.0* {source="Orphanet:100006", source="Orphanet:100006/attributed", source="Orphanet:100006/ntbt"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:419468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537944 {source="Orphanet:100006", source="Orphanet:100006/e"}
xref: MESH:D028243 {source="Orphanet:100006", source="Orphanet:100006/e"}
xref: Orphanet:100006 {source="MONDO:equivalentTo"}
xref: SCTID:56453003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419468"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related

[Term]
id: MONDO:0015034
name: lissencephaly with cerebellar hypoplasia type A
def: "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernible gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia." [Orphanet:100011]
subset: gard_rare {source="GARD:19731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100011"}
subset: ordo_malformation_syndrome {source="Orphanet:100011"}
subset: orphanet_rare {source="Orphanet:100011"}
subset: rare
xref: GARD:19731 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:100011", source="Orphanet:100011/attributed", source="Orphanet:100011/ntbt"}
xref: MEDGEN:1679234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100011 {source="MONDO:equivalentTo"}
xref: UMLS:C5191423 {source="MEDGEN:1679234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019450 {source="Orphanet:100011"} ! lissencephaly with cerebellar hypoplasia

[Term]
id: MONDO:0015035
name: lissencephaly with cerebellar hypoplasia type B
def: "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." [Orphanet:100012]
subset: gard_rare {source="GARD:19732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100012"}
subset: ordo_malformation_syndrome {source="Orphanet:100012"}
subset: orphanet_rare {source="Orphanet:100012"}
subset: rare
xref: GARD:19732 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:100012/attributed", source="Orphanet:100012/ntbt", source="Orphanet:100012"}
xref: MEDGEN:906879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100012 {source="MONDO:equivalentTo"}
xref: SCTID:715819005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274993 {source="MEDGEN:906879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019450 {source="Orphanet:100012"} ! lissencephaly with cerebellar hypoplasia

[Term]
id: MONDO:0015036
name: lissencephaly with cerebellar hypoplasia type C
def: "Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death." [Orphanet:100013]
subset: gard_rare {source="GARD:19733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100013"}
subset: ordo_malformation_syndrome {source="Orphanet:100013"}
subset: orphanet_rare {source="Orphanet:100013"}
subset: rare
xref: GARD:19733 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:100013", source="Orphanet:100013/attributed", source="Orphanet:100013/ntbt"}
xref: MEDGEN:900624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100013 {source="MONDO:equivalentTo"}
xref: SCTID:715820004 {source="MONDO:equivalentTo"}
xref: UMLS:C4274992 {source="MEDGEN:900624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019450 {source="Orphanet:100013"} ! lissencephaly with cerebellar hypoplasia

[Term]
id: MONDO:0015037
name: lissencephaly with cerebellar hypoplasia type D
def: "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." [Orphanet:100014]
subset: gard_rare {source="GARD:19734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100014"}
subset: ordo_malformation_syndrome {source="Orphanet:100014"}
subset: orphanet_rare {source="Orphanet:100014"}
subset: rare
xref: GARD:19734 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:100014/attributed", source="Orphanet:100014/ntbt", source="Orphanet:100014"}
xref: MEDGEN:895252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100014 {source="MONDO:equivalentTo"}
xref: SCTID:715821000 {source="MONDO:equivalentTo"}
xref: UMLS:C4274991 {source="MEDGEN:895252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019450 {source="Orphanet:100014"} ! lissencephaly with cerebellar hypoplasia

[Term]
id: MONDO:0015038
name: lissencephaly with cerebellar hypoplasia type E
def: "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia." [Orphanet:100015]
subset: gard_rare {source="GARD:19735", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100015"}
subset: ordo_malformation_syndrome {source="Orphanet:100015"}
subset: orphanet_rare {source="Orphanet:100015"}
subset: rare
xref: GARD:19735 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:100015/attributed", source="Orphanet:100015/ntbt", source="Orphanet:100015"}
xref: MEDGEN:1676990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100015 {source="MONDO:equivalentTo"}
xref: UMLS:C5191422 {source="MEDGEN:1676990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019450 {source="Orphanet:100015"} ! lissencephaly with cerebellar hypoplasia

[Term]
id: MONDO:0015039
name: lissencephaly with cerebellar hypoplasia type F
def: "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." [Orphanet:100016]
subset: gard_rare {source="GARD:19736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100016"}
subset: ordo_malformation_syndrome {source="Orphanet:100016"}
subset: orphanet_rare {source="Orphanet:100016"}
subset: rare
xref: GARD:19736 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:100016", source="Orphanet:100016/attributed", source="Orphanet:100016/ntbt"}
xref: MEDGEN:902647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100016 {source="MONDO:equivalentTo"}
xref: SCTID:715822007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274989 {source="MEDGEN:902647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019450 {source="Orphanet:100016"} ! lissencephaly with cerebellar hypoplasia

[Term]
id: MONDO:0015040
name: myelodysplastic syndrome with excess blasts-1
def: "A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)" [NCIT:C7167]
subset: gard_rare {source="GARD:19737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100019"}
subset: rare
synonym: "MDS-EB-1" EXACT [NCIT:C7167]
synonym: "myelodysplastic syndrome with Excess blasts-1" EXACT [NCIT:C7167]
synonym: "RAEB-1" EXACT [NCIT:C7167, Orphanet:100019]
synonym: "RAEB-I" EXACT [NCIT:C7167]
synonym: "refractory anaemia with excess blasts type 1" RELATED OMO:0003005 []
synonym: "refractory anemia with excess blasts type 1" RELATED [Orphanet:100019]
xref: GARD:19737 {source="MONDO:GARD"}
xref: ICD10CM:D46.2 {source="Orphanet:100019", source="Orphanet:100019/ntbt"}
xref: MEDGEN:231145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7167 {source="MONDO:equivalentTo"}
xref: Orphanet:100019 {source="MONDO:equivalentTo"}
xref: UMLS:C1318550 {source="MEDGEN:231145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019454 {source="NCIT:C7167", source="Orphanet:100019"} ! myelodysplastic syndrome with excess blasts

[Term]
id: MONDO:0015041
name: myelodysplastic syndrome with excess blasts-2
def: "A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)" [NCIT:C7168]
subset: gard_rare {source="GARD:19738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100020"}
subset: rare
synonym: "MDS-EB-2" EXACT [NCIT:C7168]
synonym: "myelodysplastic syndrome with Excess blasts-2" EXACT [NCIT:C7168]
synonym: "RAEB-2" EXACT [NCIT:C7168, Orphanet:100020]
synonym: "RAEB-II" EXACT [NCIT:C7168]
synonym: "refractory anaemia with excess blasts type 2" RELATED OMO:0003005 []
synonym: "refractory anemia with excess blasts type 2" RELATED [Orphanet:100020]
xref: GARD:19738 {source="MONDO:GARD"}
xref: ICD10CM:D46.2 {source="Orphanet:100020/ntbt", source="Orphanet:100020"}
xref: MEDGEN:272089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7168 {source="MONDO:equivalentTo"}
xref: Orphanet:100020 {source="MONDO:equivalentTo"}
xref: UMLS:C1318551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272089"}
is_a: MONDO:0019454 {source="NCIT:C7168", source="Orphanet:100020"} ! myelodysplastic syndrome with excess blasts

[Term]
id: MONDO:0015042
name: primary plasmacytoma of the bone
subset: gard_rare {source="GARD:19739", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100021"}
subset: rare
xref: GARD:19739 {source="MONDO:GARD"}
xref: ICD10CM:C90.3 {source="Orphanet:100021", source="Orphanet:100021/e"}
xref: Orphanet:100021 {source="MONDO:equivalentTo"}
is_a: MONDO:0005615 {source="Orphanet:100021"} ! plasmacytoma

[Term]
id: MONDO:0015043
name: extramedullary soft tissue plasmacytoma
subset: gard_rare {source="GARD:19740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100022"}
subset: rare
xref: GARD:19740 {source="MONDO:GARD"}
xref: ICD10CM:C90.2 {source="Orphanet:100022", source="Orphanet:100022/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:1842608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100022 {source="MONDO:equivalentTo"}
xref: UMLS:C2211567 {source="MEDGEN:1842608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005615 {source="Orphanet:100022"} ! plasmacytoma

[Term]
id: MONDO:0015044
name: mu-heavy chain disease
def: "Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL)." [Orphanet:100024]
subset: gard_rare {source="GARD:19741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100024"}
subset: rare
synonym: "mu chain disease" EXACT [MONDO:0000658]
synonym: "mu heavy chain disease" EXACT [NCIT:C3892]
synonym: "mu-HCD" EXACT [Orphanet:100024]
xref: DOID:0060128 {source="MONDO:equivalentTo"}
xref: GARD:19741 {source="MONDO:GARD"}
xref: ICD10CM:C88.2 {source="Orphanet:100024", source="Orphanet:100024/ntbt"}
xref: icd11.foundation:963887455 {source="Orphanet:100024", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3892 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:100024 {source="MONDO:equivalentTo"}
xref: SCTID:61493004 {source="MONDO:equivalentTo"}
xref: UMLS:C0242310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66875"}
is_a: MONDO:0019464 {source="DOID:0060128", source="NCIT:C3892", source="Orphanet:100024"} ! heavy chain disease

[Term]
id: MONDO:0015045
name: alpha-heavy chain disease
def: "Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption." [Orphanet:100025]
subset: gard_rare {source="GARD:19742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100025"}
subset: rare
synonym: "alpha chain disease" EXACT [MONDO:0000656]
synonym: "Alpha heavy chain disease" EXACT [NCIT:C3132]
synonym: "Alpha-HCD" EXACT [Orphanet:100025]
synonym: "Immunoproliferative small intestinal disease" EXACT [NCIT:C3132, Orphanet:100025]
synonym: "IPSID" EXACT ABBREVIATION [NCIT:C3132, Orphanet:100025]
synonym: "Mediterranean abdominal lymphoma" EXACT [NCIT:C3132]
synonym: "Mediterranean lymphoma" EXACT [Orphanet:100025]
synonym: "Mediterraneanl lymphoma" EXACT [NCIT:C3132]
synonym: "Seligmann's disease" RELATED [DOID:0060126, Wikipedia:Heavy_chain_disease]
xref: DOID:0060126 {source="MONDO:equivalentTo"}
xref: GARD:19742 {source="MONDO:GARD"}
xref: ICD10CM:C88.3 {source="Orphanet:100025/ntbt", source="Orphanet:100025"}
xref: icd11.foundation:680227490 {source="Orphanet:100025", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICDO:9760/3 {source="NCIT:C3132"}
xref: ICDO:9764/3 {source="NCIT:C3132"}
xref: MEDGEN:7039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007161 {source="MONDO:equivalentTo"}
xref: NCIT:C3132 {source="MONDO:equivalentTo"}
xref: Orphanet:100025 {source="MONDO:equivalentTo"}
xref: UMLS:C0021071 {source="MEDGEN:7039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019464 {source="DOID:0060126", source="MESH:D007161", source="NCIT:C3132", source="Orphanet:100025"} ! heavy chain disease

[Term]
id: MONDO:0015046
name: gamma-heavy chain disease
def: "Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases." [Orphanet:100026]
subset: gard_rare {source="GARD:10346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100026"}
subset: rare
synonym: "Franklin disease" EXACT [NCIT:C3083, Orphanet:100026]
synonym: "Franklin's disease" EXACT [DOID:0060127, NCIT:C3083, Wikipedia:Heavy_chain_disease]
synonym: "gamma heavy chain disease" EXACT [MONDO:0000657, NCIT:C3083]
synonym: "gamma-HCD" EXACT [Orphanet:100026]
xref: DOID:0060127 {source="MONDO:equivalentTo"}
xref: GARD:10346 {source="MONDO:GARD"}
xref: ICD10CM:C88.2 {source="Orphanet:100026/ntbt", source="Orphanet:100026"}
xref: icd11.foundation:705015637 {source="Orphanet:100026", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:42374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3083 {source="MONDO:equivalentTo"}
xref: Orphanet:100026 {source="MONDO:equivalentTo"}
xref: SCTID:109984001 {source="MONDO:equivalentTo"}
xref: UMLS:C0018854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42374"}
is_a: MONDO:0019464 {source="DOID:0060127", source="NCIT:C3083", source="Orphanet:100026"} ! heavy chain disease

[Term]
id: MONDO:0015047
name: amelogenesis imperfecta type 1
subset: gard_rare {source="GARD:645", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100031"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypoplastic amelogenesis imperfecta" EXACT [Orphanet:100031]
xref: GARD:645 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:100031/attributed", source="Orphanet:100031/ntbt", source="Orphanet:100031"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100031 {source="MONDO:equivalentTo"}
xref: SCTID:109476006 {source="MONDO:equivalentTo"}
xref: UMLS:C0399367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:97992"}
is_a: MONDO:0019507 {source="Orphanet:100031"} ! amelogenesis imperfecta

[Term]
id: MONDO:0015048
name: amelogenesis imperfecta type 2
subset: gard_rare {source="GARD:8349", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100033"}
subset: rare
synonym: "amelogenesis imperfecta hypomaturation type" RELATED [GARD:0008349]
synonym: "hypomaturation amelogenesis imperfecta" EXACT [Orphanet:100033]
xref: GARD:8349 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:100033", source="Orphanet:100033/attributed", source="Orphanet:100033/ntbt"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536606 {source="Orphanet:100033", source="MONDO:equivalentTo", source="Orphanet:100033/e"}
xref: Orphanet:100033 {source="MONDO:equivalentTo"}
xref: SCTID:109475005 {source="MONDO:equivalentTo"}
xref: UMLS:C0399372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:97994"}
is_a: MONDO:0019507 {source="MESH:C536606", source="Orphanet:100033"} ! amelogenesis imperfecta

[Term]
id: MONDO:0015049
name: solitary necrotic nodule of the liver
def: "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort." [Orphanet:100035]
subset: gard_rare {source="GARD:19743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100035"}
subset: orphanet_rare {source="Orphanet:100035"}
subset: rare
synonym: "hepatic solitary necrotic nodule" EXACT [Orphanet:100035]
xref: GARD:19743 {source="MONDO:GARD"}
xref: ICD10CM:D13.4 {source="Orphanet:100035", source="Orphanet:100035/ntbt"}
xref: MEDGEN:755361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100035 {source="MONDO:equivalentTo"}
xref: SCTID:447058001 {source="MONDO:equivalentTo"}
xref: UMLS:C2960192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:755361"}
is_a: MONDO:0024477 {source="Orphanet:100035"} ! liver and intrahepatic bile duct neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017632"} ! rare

[Term]
id: MONDO:0015050
name: esophageal duplication cyst
def: "A rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." [Orphanet:100047]
subset: gard_rare {source="GARD:19744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100047"}
subset: ordo_morphological_anomaly {source="Orphanet:100047"}
subset: orphanet_rare {source="Orphanet:100047"}
subset: rare
xref: GARD:19744 {source="MONDO:GARD"}
xref: ICD10CM:Q39.8 {source="Orphanet:100047/attributed", source="Orphanet:100047/ntbt", source="Orphanet:100047"}
xref: MEDGEN:929193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100047 {source="MONDO:equivalentTo"}
xref: SCTID:721161005 {source="MONDO:equivalentTo"}
xref: UMLS:C4303524 {source="MEDGEN:929193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="https://orcid.org/0000-0001-5208-3432"} ! esophageal disorder
relationship: disease_has_location UBERON:0001043 {source="https://orcid.org/0000-0001-5208-3432"} ! esophagus

[Term]
id: MONDO:0015051
name: tubular duplication of the esophagus
def: "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." [Orphanet:100048]
subset: gard_rare {source="GARD:19745", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100048"}
subset: ordo_morphological_anomaly {source="Orphanet:100048"}
subset: orphanet_rare {source="Orphanet:100048"}
subset: rare
xref: GARD:19745 {source="MONDO:GARD"}
xref: ICD10CM:Q39.8 {source="Orphanet:100048/attributed", source="Orphanet:100048/ntbt", source="Orphanet:100048"}
xref: MEDGEN:897945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100048 {source="MONDO:equivalentTo"}
xref: UMLS:C4274729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897945"}
is_a: MONDO:0003749 {source="https://orcid.org/0000-0001-5208-3432"} ! esophageal disorder

[Term]
id: MONDO:0015052
name: obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
def: "OBSOLETE. Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." [Orphanet:100049]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary interstitial lung disease specific to childhood'
subset: ordo_group_of_disorders {source="Orphanet:100049"}
synonym: "primary ILD specific to childhood due to pulmonary surfactant protein anomalies" EXACT [Orphanet:100049]
xref: GARD:19746 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:100049 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017015

[Term]
id: MONDO:0015053
name: hereditary angioedema type 1
def: "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100050]
subset: gard_rare {source="GARD:16933", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:100050"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HAE 1" EXACT [Orphanet:100050]
synonym: "HAE-I" EXACT [Orphanet:100050]
synonym: "hereditary angioneurotic edema type 1" EXACT [Orphanet:100050]
synonym: "hereditary angioneurotic oedema type 1" EXACT OMO:0003005 []
xref: GARD:16933 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:100050/attributed", source="Orphanet:100050/ntbt", source="Orphanet:100050"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:403466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538577 {source="Orphanet:100050/e", source="Orphanet:100050"}
xref: Orphanet:100050 {source="MONDO:equivalentTo"}
xref: SCTID:234619000 {source="MONDO:equivalentTo"}
xref: UMLS:C2717906 {source="MEDGEN:403466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0033946 {source="Orphanet:100050"} ! hereditary angioedema with C1Inh deficiency

[Term]
id: MONDO:0015054
name: hereditary angioedema type 2
def: "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100051]
subset: gard_rare {source="GARD:16934", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:100051"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100051"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HAE 2" EXACT [Orphanet:100051]
synonym: "HAE-II" EXACT [Orphanet:100051]
synonym: "hereditary angioneurotic edema type 2" EXACT [Orphanet:100051]
synonym: "hereditary angioneurotic oedema type 2" EXACT OMO:0003005 []
xref: GARD:16934 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:100051/attributed", source="Orphanet:100051/ntbt", source="Orphanet:100051"}
xref: MEDGEN:585077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100051 {source="MONDO:equivalentTo"}
xref: UMLS:C0398776 {source="MEDGEN:585077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0033946 {source="Orphanet:100051"} ! hereditary angioedema with C1Inh deficiency

[Term]
id: MONDO:0015055
name: acquired angioedema type 2
def: "Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100055]
subset: gard_rare {source="GARD:19747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100055"}
subset: rare
synonym: "AAE 2" EXACT [Orphanet:100055]
synonym: "AAE II" EXACT [Orphanet:100055]
synonym: "acquired angioneurotic edema type 2" EXACT [Orphanet:100055]
synonym: "acquired angioneurotic oedema type 2" EXACT OMO:0003005 []
xref: GARD:19747 {source="MONDO:GARD"}
xref: ICD10CM:T78.3 {source="Orphanet:100055", source="Orphanet:100055/ntbt"}
xref: MEDGEN:1814461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100055 {source="MONDO:equivalentTo"}
xref: UMLS:C5680381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814461"}
is_a: MONDO:0019624 {source="Orphanet:100055"} ! acquired angioedema

[Term]
id: MONDO:0015056
name: acquired angioedema type 1
def: "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100056]
subset: gard_rare {source="GARD:19748", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100056"}
subset: rare
synonym: "acquired angioneurotic edema type 1" EXACT [Orphanet:100056]
synonym: "acquired angioneurotic oedema type 1" EXACT OMO:0003005 []
xref: GARD:19748 {source="MONDO:GARD"}
xref: ICD10CM:T78.3 {source="Orphanet:100056/ntbt", source="Orphanet:100056"}
xref: MEDGEN:1814460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100056 {source="MONDO:equivalentTo"}
xref: UMLS:C5680380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814460"}
is_a: MONDO:0019624 {source="Orphanet:100056"} ! acquired angioedema

[Term]
id: MONDO:0015057
name: renin-angiotensin-aldosterone system-blocker-induced angioedema
def: "Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100057]
comment: Editor note: consider separate class for OMIM for predisposition
subset: gard_rare {source="GARD:16936", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:100057"}
subset: orphanet_rare {source="Orphanet:100057"}
subset: rare
synonym: "AEACEI" RELATED ABBREVIATION [OMIM:300909]
synonym: "angioedema induced by ACE inhibitors, susceptibility to" RELATED [OMIM:300909]
synonym: "Raas-blocker-induced angioedema" EXACT [Orphanet:100057]
synonym: "Raas-blocker-induced angioneurotic edema" EXACT [Orphanet:100057]
synonym: "Raas-blocker-induced angioneurotic oedema" EXACT OMO:0003005 []
synonym: "RAE" EXACT ABBREVIATION [Orphanet:100057]
synonym: "reactive angioendotheliomatosis" RELATED [GARD:0009445]
synonym: "renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema" EXACT [Orphanet:100057]
synonym: "renin-angiotensin-aldosterone system-blocker-induced angioneurotic oedema" EXACT OMO:0003005 []
synonym: "susceptibility to angioedema induced by ace inhibitors" RELATED [OMIM:300909]
xref: GARD:16936 {source="MONDO:GARD"}
xref: ICD10CM:T78.3 {source="Orphanet:100057", source="Orphanet:100057/ntbt"}
xref: MEDGEN:725846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535293 {source="MONDO:equivalentTo"}
xref: Orphanet:100057 {source="MONDO:equivalentTo"}
xref: SCTID:403607004 {source="MONDO:equivalentTo"}
xref: UMLS:C1304495 {source="MEDGEN:725846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019624 {source="Orphanet:100057"} ! acquired angioedema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3945" xsd:anyURI

[Term]
id: MONDO:0015058
name: obsolete Waterhouse-Friderichsen syndrome
is_obsolete: true
replaced_by: MONDO:0006015

[Term]
id: MONDO:0015059
name: progressive non-fluent aphasia
def: "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." [Orphanet:100070]
subset: gard_rare {source="GARD:10793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100070"}
subset: orphanet_rare {source="Orphanet:100070"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Agramatic variant of PPA" EXACT [Orphanet:100070]
synonym: "Agramatic variant of primary progressive aphasia" EXACT [Orphanet:100070]
synonym: "non-fluent primary progressive aphasia" RELATED [GARD:0010793]
synonym: "non-fluent variant PPA" EXACT [Orphanet:100070]
synonym: "Primary Progressive Nonfluent aphasia" EXACT [NCIT:C85025]
xref: DOID:0081390 {source="MONDO:equivalentTo"}
xref: GARD:10793 {source="MONDO:GARD"}
xref: ICD10CM:G31.0 {source="Orphanet:100070/attributed", source="Orphanet:100070/ntbt", source="Orphanet:100070"}
xref: MedDRA:10029542 {source="Orphanet:100070/e", source="Orphanet:100070"}
xref: MEDGEN:148373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057178 {source="Orphanet:100070/e", source="MONDO:equivalentTo", source="Orphanet:100070"}
xref: NCIT:C85025 {source="MONDO:equivalentTo"}
xref: Orphanet:100070 {source="MONDO:equivalentTo"}
xref: SCTID:716281000 {source="MONDO:equivalentTo"}
xref: UMLS:C0751706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148373"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0011842 ! GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
is_a: MONDO:0019806 {source="MESH:D057178", source="NCIT:C85025", source="Orphanet:100070"} ! primary progressive aphasia
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia" xsd:anyURI {source="GARD:0010793"}

[Term]
id: MONDO:0015060
name: mosaic trisomy 3
def: "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." [Orphanet:100071]
subset: gard_rare {source="GARD:5342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100071"}
subset: ordo_malformation_syndrome {source="Orphanet:100071"}
subset: orphanet_rare {source="Orphanet:100071"}
subset: rare
synonym: "Mosaic trisomy chromosome 3" EXACT [Orphanet:100071]
synonym: "Mosaic trisomy type 3" EXACT [MONDORULE:1, Orphanet:100071]
synonym: "trisomy 3 mosaicism" EXACT [Orphanet:100071]
xref: GARD:5342 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:100071", source="Orphanet:100071/attributed", source="Orphanet:100071/ntbt"}
xref: MEDGEN:1646607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100071 {source="MONDO:equivalentTo"}
xref: SCTID:764627005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646607"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr3 ! chromosome 3 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0015061
name: neurogenic thoracic outlet syndrome
def: "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." [Orphanet:100073]
subset: gard_rare {source="GARD:19749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100073"}
subset: rare
synonym: "neurogenic cervical rib syndrome" EXACT [Orphanet:100073]
synonym: "neurogenic costoclavicular syndrome" EXACT [Orphanet:100073]
synonym: "neurogenic thoracic outlet compression syndrome" EXACT [Orphanet:100073]
synonym: "neurogenic TOS" EXACT [Orphanet:100073]
synonym: "NTOS" EXACT ABBREVIATION [Orphanet:100073]
xref: GARD:19749 {source="MONDO:GARD"}
xref: ICD10CM:G54.0 {source="Orphanet:100073/ntbt", source="Orphanet:100073"}
xref: MEDGEN:155880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100073 {source="MONDO:equivalentTo"}
xref: SCTID:2040007 {source="MONDO:equivalentTo"}
xref: UMLS:C0751549 {source="MEDGEN:155880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005979 {source="Orphanet:100073"} ! thoracic outlet syndrome

[Term]
id: MONDO:0015062
name: gastric neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach." [NCIT:C95871]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric NET" EXACT [NCIT:C95871]
synonym: "gastric NET G1/2" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "gastric neuroendocrine tumor" EXACT [NCIT:C95871]
synonym: "gastric neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "gastric well differentiated endocrine tumor" EXACT [NCIT:C95871]
synonym: "gastric well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95871]
synonym: "gastric well differentiated endocrine tumour" EXACT OMO:0003005 []
synonym: "GNET" EXACT ABBREVIATION [Orphanet:100075]
synonym: "well-differentiated neuroendocrine tumors of the stomach" RELATED [ONCOTREE:SWDNET]
synonym: "well-differentiated neuroendocrine tumours of the stomach" RELATED OMO:0003005 []
xref: MEDGEN:474032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95871 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:SWDNET {source="MONDO:equivalentTo"}
xref: UMLS:C3272399 {source="MEDGEN:474032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000386 {source="MONDO:Redundant", source="NCIT:C95871", source="ONCOTREE:SWDNET"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0003111 {source="NCIT:C95871"} ! gastric neuroendocrine neoplasm
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100075"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000945 ! stomach
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0015063
name: duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum." [NCIT:C135080]
subset: disease_grouping
subset: gard_rare {source="GARD:19751", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:100076"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "duodenal neuroendocrine tumor" EXACT [NCIT:C135080]
synonym: "duodenal neuroendocrine tumour" EXACT OMO:0003005 []
xref: GARD:19751 {source="MONDO:GARD"}
xref: MEDGEN:1619951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C135080 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:100076 {source="MONDO:equivalentTo"}
xref: UMLS:C4525619 {source="MEDGEN:1619951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C135080"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0018510 {source="MONDO:Redundant", source="NCIT:C135080/inferred", source="Orphanet:100076"} ! small intestine neuroendocrine neoplasm
is_a: MONDO:0021375 {source="MONDO:Redundant", source="NCIT:C135080"} ! tumor of duodenum
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100076", source="Orphanet:100076/inferred"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002114 ! duodenum
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0015064
name: jejunal neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum." [NCIT:C135090]
comment: Editor note: TODO apply G1/G2 pattern
subset: gard_rare {source="GARD:19752", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:100077"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "jejunal neuroendocrine neoplasm" EXACT [Orphanet:100077]
synonym: "jejunal neuroendocrine tumor" RELATED [Orphanet:100077]
synonym: "jejunal neuroendocrine tumour" RELATED OMO:0003005 []
xref: GARD:19752 {source="MONDO:GARD"}
xref: MEDGEN:1619460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C135090 {source="MONDO:equivalentTo"}
xref: Orphanet:100077 {source="MONDO:equivalentTo"}
xref: UMLS:C4525626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1619460"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C135090"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0018510 {source="MONDO:Redundant", source="NCIT:C135090/inferred", source="Orphanet:100077"} ! small intestine neuroendocrine neoplasm
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100077", source="Orphanet:100077/inferred"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002115 ! jejunum
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0015065
name: ileal neuroendocrine tumor, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum." [NCIT:C135092]
comment: Editor note: TODO apply G1/G2 pattern
subset: gard_rare {source="GARD:19753", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100078"}
subset: orphanet_rare {source="Orphanet:100078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ileal neuroendocrine neoplasm" EXACT [Orphanet:100078]
synonym: "ileal neuroendocrine tumor" RELATED [Orphanet:100078]
synonym: "ileal neuroendocrine tumour" RELATED OMO:0003005 []
xref: GARD:19753 {source="MONDO:GARD"}
xref: MEDGEN:1611292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C135092 {source="MONDO:equivalentTo"}
xref: Orphanet:100078 {source="MONDO:equivalentTo"}
xref: UMLS:C4525628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1611292"}
is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C135092"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0006801 {source="MONDO:Redundant", source="NCIT:C135092"} ! ileal neoplasm
is_a: MONDO:0018510 {source="MONDO:Redundant", source="NCIT:C135092/inferred", source="Orphanet:100078"} ! small intestine neuroendocrine neoplasm
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100078", source="Orphanet:100078/inferred"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002116 ! ileum
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0015066
name: neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix." [NCIT:C96422]
subset: gard_rare {source="GARD:19754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100079"}
subset: orphanet_rare {source="Orphanet:100079"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "appendiceal NEN" EXACT [Orphanet:100079]
synonym: "appendiceal neuroendocrine neoplasm" EXACT [Orphanet:100079]
synonym: "appendiceal neuroendocrine tumor" EXACT [Orphanet:100079]
synonym: "appendiceal neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "appendix NET" EXACT [NCIT:C96422]
synonym: "appendix neuroendocrine tumor" EXACT [NCIT:C96422]
synonym: "appendix neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "appendix well differentiated endocrine tumor" EXACT [NCIT:C96422]
synonym: "appendix well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96422]
synonym: "appendix well differentiated endocrine tumour" EXACT OMO:0003005 []
synonym: "NEN of appendix" EXACT [Orphanet:100079]
synonym: "neuroendocrine neoplasm of appendix" RELATED [Orphanet:100079]
synonym: "well-differentiated neuroendocrine tumor of the appendix" RELATED [ONCOTREE:AWDNET]
synonym: "well-differentiated neuroendocrine tumour of the appendix" RELATED OMO:0003005 []
xref: GARD:19754 {source="MONDO:GARD"}
xref: ICD10CM:C18.1 {source="Orphanet:100079", source="Orphanet:100079/ntbt"}
xref: ICD10CM:D37.3 {source="Orphanet:100079", source="Orphanet:100079/ntbt"}
xref: icd11.foundation:1590340268 {source="Orphanet:100079", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:474400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96422 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:AWDNET {source="MONDO:equivalentTo"}
xref: Orphanet:100079 {source="MONDO:equivalentTo"}
xref: SCTID:725167001 {source="MONDO:equivalentTo"}
xref: UMLS:C3272767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474400"}
is_a: MONDO:0000386 {source="MONDO:Redundant", source="NCIT:C96422", source="ONCOTREE:AWDNET"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0018511 {source="MONDO:Redundant", source="Orphanet:100079"} ! epithelial tumor of the appendix
is_a: MONDO:0024501 {source="MONDO:Redundant", source="NCIT:C96422"} ! appendix neuroendocrine neoplasm
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100079", source="Orphanet:100079/inferred"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0015067
name: neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon." [NCIT:C135212]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoid tumor of colon" BROAD [https://orcid.org/0000-0002-6601-2165]
synonym: "carcinoid tumour of colon" BROAD OMO:0003005 []
synonym: "colon neuroendocrine tumor" BROAD [NCIT:C135212]
synonym: "colon neuroendocrine tumour" BROAD OMO:0003005 []
synonym: "colonic NET" EXACT [Orphanet:100080]
synonym: "NET of the colon" EXACT [Orphanet:100080]
synonym: "neuroendocrine neoplasm of the colon" BROAD [Orphanet:100080]
xref: MEDGEN:1617490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C135212 {source="MONDO:equivalentTo"}
xref: NCIT:CN197360 {source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C4525742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617490"}
is_a: MONDO:0002882 {source="MONDO:Redundant", source="NCIT:C135212"} ! colon neuroendocrine neoplasm
is_a: MONDO:0024479 {source="Orphanet:100080"} ! epithelial tumor of colon
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001155 ! colon
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018512"} ! rare

[Term]
id: MONDO:0015068
name: neuroendocrine tumor of rectum, well differentiated, low or intermediate grade
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." [NCIT:C135213]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neuroendocrine tumor of the rectum" RELATED [Orphanet:100081]
synonym: "neuroendocrine tumour of the rectum" RELATED OMO:0003005 []
synonym: "rectal neuroendocrine tumor" EXACT [NCIT:C135213, Orphanet:100081]
synonym: "rectal neuroendocrine tumour" EXACT OMO:0003005 []
xref: NCIT:C135213 {source="MONDO:equivalentTo"}
is_a: MONDO:0002883 {source="MONDO:Redundant", source="NCIT:C135213/inferred"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0003646 {source="MONDO:Redundant", source="NCIT:C135213"} ! rectum neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001052 ! rectum
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0015069
name: neuroendocrine tumor of the anal canal
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal." [NCIT:C96540]
comment: Editor note: TODO apply G1/G2 pattern
subset: gard_rare {source="GARD:19757", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100082"}
subset: orphanet_rare {source="Orphanet:100082"}
subset: rare
synonym: "anal canal NET" EXACT [NCIT:C96540]
synonym: "anal canal neuroendocrine neoplasm" BROAD [MONDO:patterns/location]
synonym: "anal canal neuroendocrine tumor" EXACT [NCIT:C96540]
synonym: "anal canal neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "anal canal well differentiated tumor" EXACT [NCIT:C96540]
synonym: "anal canal well differentiated tumor/carcinoma" EXACT [NCIT:C96540]
synonym: "anal canal well differentiated tumour" EXACT OMO:0003005 []
synonym: "anal NET" EXACT [NCIT:C96540]
synonym: "anal Neuroendocrine tumor" EXACT [NCIT:C96540]
synonym: "anal Neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "NET of anal canal" EXACT [Orphanet:100082]
synonym: "NET of the anal canal" EXACT [Orphanet:100082]
synonym: "neuroendocrine neoplasm of the anal canal" EXACT [Orphanet:100082]
synonym: "neuroendocrine tumor of anal canal" RELATED [Orphanet:100082]
synonym: "neuroendocrine tumour of anal canal" RELATED OMO:0003005 []
xref: GARD:19757 {source="MONDO:GARD"}
xref: icd11.foundation:1927831331 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:100082"}
xref: MEDGEN:474482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96540 {source="MONDO:equivalentTo"}
xref: Orphanet:100082 {source="MONDO:equivalentTo"}
xref: UMLS:C3272849 {source="MEDGEN:474482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000386 {source="NCIT:C96540"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0018516 {source="Orphanet:100082"} ! epithelial tumor of anal canal
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100082", source="Orphanet:100082/inferred"} ! digestive system neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000159 ! anal canal
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0015070
name: laryngeal neuroendocrine neoplasm
def: "A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma." [NCIT:C6023]
subset: gard_rare {source="GARD:19758", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100083"}
subset: orphanet_rare {source="Orphanet:100083"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "laryngeal neuroendocrine neoplasm" EXACT [NCIT:C6023]
synonym: "laryngeal neuroendocrine tumor" RELATED [DOID:5457]
synonym: "laryngeal neuroendocrine tumour" RELATED OMO:0003005 []
synonym: "larynx NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "larynx neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C6023]
synonym: "larynx neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "larynx neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "larynx neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of larynx" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C6023]
synonym: "neuroendocrine neoplasm of the larynx" EXACT [NCIT:C6023]
synonym: "neuroendocrine tumor of larynx" EXACT [DOID:5457, NCIT:C6023]
synonym: "neuroendocrine tumour of larynx" EXACT OMO:0003005 []
xref: DOID:5457 {source="MONDO:equivalentTo"}
xref: GARD:19758 {source="MONDO:GARD"}
xref: icd11.foundation:1502591214 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:100083"}
xref: MEDGEN:232692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6023 {source="DOID:5457", source="MONDO:equivalentTo"}
xref: Orphanet:100083 {source="MONDO:equivalentTo"}
xref: SCTID:707625001 {source="DOID:5457", source="MONDO:equivalentTo"}
xref: UMLS:C1334374 {source="MEDGEN:232692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0019496 {source="DOID:5457", source="MONDO:Redundant", source="NCIT:C6023", source="Orphanet:100083/inferred"} ! neuroendocrine neoplasm
is_a: MONDO:0021071 {source="MONDO:Redundant", source="NCIT:C6023"} ! laryngeal neoplasm
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0015071
name: middle ear neuroendocrine tumor
def: "A neuroendocrine neoplasm that involves the middle ear." [MONDO:patterns/location]
subset: gard_rare {source="GARD:19759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100084"}
subset: orphanet_rare {source="Orphanet:100084"}
subset: rare
synonym: "middle ear NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "middle ear neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "middle ear neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "middle ear neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of middle ear" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine tumor of middle ear" EXACT []
synonym: "neuroendocrine tumour of middle ear" EXACT OMO:0003005 []
xref: GARD:19759 {source="MONDO:GARD"}
xref: icd11.foundation:1437498002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:100084"}
xref: MEDGEN:931137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100084 {source="MONDO:equivalentTo"}
xref: SCTID:717918002 {source="MONDO:equivalentTo"}
xref: UMLS:C4305468 {source="MEDGEN:931137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0015072
name: liver neuroendocrine carcinoma
def: "An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver." [NCIT:C96787]
subset: gard_rare {source="GARD:19760", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100085"}
subset: orphanet_rare {source="Orphanet:100085"}
subset: rare
synonym: "hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787]
synonym: "HNEC" EXACT ABBREVIATION [NCIT:C96787]
synonym: "liver neuroendocrine cancer" EXACT [NCIT:C96787]
synonym: "liver neuroendocrine carcinoma" EXACT [MONDO:patterns/location, NCIT:C96787]
synonym: "neuroendocrine carcinoma of liver" EXACT [MONDO:design_pattern]
synonym: "PHNEC" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "primary hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787]
synonym: "primary liver neuroendocrine carcinoma" EXACT [NCIT:C96787]
xref: GARD:19760 {source="MONDO:GARD"}
xref: ICD10CM:C22.7 {source="Orphanet:100085/ntbt", source="Orphanet:100085"}
xref: MEDGEN:474664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96787 {source="MONDO:equivalentTo"}
xref: Orphanet:100085 {source="MONDO:equivalentTo"}
xref: SCTID:716652006 {source="MONDO:equivalentTo"}
xref: UMLS:C3273031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474664"}
is_a: MONDO:0024477 {source="MONDO:0018530-obsoleted"} ! liver and intrahepatic bile duct neoplasm
intersection_of: MONDO:0002120 ! neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0015073
name: gallbladder neuroendocrine tumor, grade 1/2
def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder." [NCIT:C96918]
subset: gard_rare {source="GARD:19761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100086"}
subset: orphanet_rare {source="Orphanet:100086"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gallbladder NET" EXACT [NCIT:C96918]
synonym: "gallbladder neuroendocrine tumor" EXACT [NCIT:C96918]
synonym: "gallbladder neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "gallbladder well differentiated endocrine tumor" EXACT [NCIT:C96918]
synonym: "gallbladder well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96918]
synonym: "gallbladder well differentiated endocrine tumour" EXACT OMO:0003005 []
xref: GARD:19761 {source="MONDO:GARD"}
xref: ICD10CM:C23 {source="Orphanet:100086/ntbt", source="Orphanet:100086"}
xref: MEDGEN:474749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96918 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:100086 {source="MONDO:equivalentTo"}
xref: UMLS:C3273116 {source="MEDGEN:474749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000386 {source="MONDO:Entailed", source="NCIT:C96918"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0002514 {source="MONDO:0017631-obsoleted"} ! hepatobiliary neoplasm
is_a: MONDO:0021385 {source="MONDO:0017631-obsoleted"} ! extrahepatic bile duct neoplasm
is_a: MONDO:0024502 {source="MONDO:Redundant", source="NCIT:C96918"} ! gallbladder neuroendocrine neoplasm
intersection_of: MONDO:0024502 ! gallbladder neuroendocrine neoplasm
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0015074
name: thyroid tumor
alt_id: MONDO:0021217
def: "A benign or malignant neoplasm affecting the thyroid gland." [NCIT:P378]
comment: Editor note: TODO
subset: disease_grouping
subset: gard_rare {source="GARD:19762", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:100087"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of the thyroid" EXACT [NCIT:C3414]
synonym: "neoplasm of the thyroid gland" EXACT [NCIT:C3414]
synonym: "neoplasm of thyroid" EXACT [NCIT:C3414]
synonym: "neoplasm of thyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3414]
synonym: "THYROID" RELATED ABBREVIATION [ONCOTREE:THYROID]
synonym: "thyroid gland neoplasm" EXACT [NCIT:C3414]
synonym: "thyroid gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "thyroid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3414]
synonym: "thyroid gland tumour" EXACT OMO:0003005 []
synonym: "thyroid neoplasm" EXACT [NCIT:C3414]
synonym: "thyroid neoplasms" EXACT [NCIT:C3414]
synonym: "thyroid tumor" EXACT [NCIT:C3414]
synonym: "tumor of the thyroid" EXACT [NCIT:C3414]
synonym: "tumor of the thyroid gland" EXACT [NCIT:C3414]
synonym: "tumor of thyroid" EXACT [NCIT:C3414]
synonym: "tumor of thyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3414]
synonym: "tumour of the thyroid" EXACT OMO:0003005 []
synonym: "tumour of the thyroid gland" EXACT OMO:0003005 []
synonym: "tumour of thyroid" EXACT OMO:0003005 []
synonym: "tumour of thyroid gland" EXACT OMO:0003005 []
xref: EFO:0003841 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19762 {source="MONDO:GARD"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12400 {source="ONCOTREE:THYROID"}
xref: NCIT:C3414 {source="MONDO:equivalentTo"}
xref: ONCOTREE:THYROID {source="MONDO:equivalentTo"}
xref: Orphanet:100087 {source="MONDO:equivalentTo"}
xref: SCTID:127018007 {source="MONDO:equivalentTo"}
xref: UMLS:C0040136 {source="MEDGEN:21546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 {source="MONDO:Redundant", source="NCIT:C3414"} ! thyroid gland disorder
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3414/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0015075
name: thyroid gland carcinoma
def: "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic." [NCIT:C4815]
subset: disease_grouping
subset: gard_rare {source="GARD:19763", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:100088"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of the thyroid" BROAD [NCIT:C4815]
synonym: "cancer of thyroid" BROAD [NCIT:C4815]
synonym: "carcinoma of the thyroid" EXACT [NCIT:C4815]
synonym: "carcinoma of the thyroid gland" EXACT [NCIT:C4815]
synonym: "carcinoma of thyroid" EXACT [NCIT:C4815]
synonym: "carcinoma of thyroid gland" EXACT [MONDO:patterns/carcinoma, NCIT:C4815]
synonym: "head and neck cancer, thyroid" BROAD [DOID:3963, NCIT:C4815]
synonym: "thyroid cancer" BROAD [NCIT:C4815]
synonym: "thyroid cancer, NOS" BROAD EXCLUDE [NCIT:C4815]
synonym: "thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C4815]
synonym: "thyroid gland cancer" BROAD [NCIT:C4815]
synonym: "thyroid gland carcinoma" EXACT [MONDO:0006461, MONDO:patterns/location, NCIT:C4815]
xref: DOID:3963 {source="MONDO:equivalentTo"}
xref: EFO:0002892 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19763 {source="MONDO:GARD"}
xref: HP:0002890 {source="MONDO:otherHierarchy"}
xref: MedDRA:10007476 {source="Orphanet:100088", source="Orphanet:100088/e"}
xref: MEDGEN:107811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013964 {source="DOID:3963"}
xref: NANDO:2200074 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4815 {source="EFO:1000586", source="MONDO:equivalentTo", source="DOID:3963"}
xref: Orphanet:100088 {source="MONDO:equivalentTo"}
xref: SCTID:448216007 {source="MONDO:equivalentTo"}
xref: UMLS:C0549473 {source="MEDGEN:107811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002108 {source="DOID:3963", source="MONDO:Redundant", source="NCIT:C4815"} ! thyroid cancer
is_a: MONDO:0004993 {source="DOID:3963", source="EFO:1000586", source="MONDO:Redundant", source="NCIT:C4815/inferred"} ! carcinoma
is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C4815/inferred", source="Orphanet:100088"} ! thyroid tumor
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0015076
name: obsolete rare parathyroid tumor
def: "OBSOLETE. Any of the forms of tumor of parathyroid gland that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:100090"}
synonym: "rare tumor of parathyroid gland" EXACT [MONDO:patterns/rare]
xref: GARD:19764 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:C75.0 {source="Orphanet:100090", source="Orphanet:100090/btnt"}
xref: ICD10CM:D35.1 {source="MONDO:relatedTo", source="Orphanet:100090", source="Orphanet:100090/btnt"}
xref: ICD10CM:D44.2 {source="Orphanet:100090", source="Orphanet:100090/btnt"}
xref: Orphanet:100090 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021360

[Term]
id: MONDO:0015077
name: obsolete adrenal/paraganglial tumor
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021227

[Term]
id: MONDO:0015078
name: obsolete gastroenteropancreatic neuroendocrine neoplasm
is_obsolete: true
replaced_by: MONDO:0024503

[Term]
id: MONDO:0015079
name: multiple polyglandular tumor
comment: Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad
subset: disease_grouping
subset: gard_rare {source="GARD:19766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:100094"}
subset: rare
xref: GARD:19766 {source="MONDO:GARD"}
xref: ICD10WHO:D44.8 {source="Orphanet:100094/specific", source="Orphanet:100094/e", source="MONDO:equivalentTo", source="Orphanet:100094"}
xref: icd11.foundation:1316827435 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:100094"}
xref: Orphanet:100094 {source="MONDO:equivalentTo"}
is_a: MONDO:0015126 {source="Orphanet:100094"} ! polyendocrinopathy
relationship: disease_has_feature MONDO:0002082 {source="Orphanet:100094"} ! endocrine gland neoplasm
relationship: excluded_subClassOf MONDO:0025511 {source="Orphanet:100094", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited neuroendocrine tumor

[Term]
id: MONDO:0015080
name: obsolete thymic tumor
is_obsolete: true
replaced_by: MONDO:0005197

[Term]
id: MONDO:0015081
name: obsolete neuroendocrine tumor with other location
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.
subset: ordo_group_of_disorders {source="Orphanet:100101"}
xref: GARD:19768 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:100101 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019496

[Term]
id: MONDO:0015082
name: alopecia antibody deficiency
subset: gard_rare {source="GARD:18713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1006"}
subset: orphanet_rare {source="Orphanet:1006"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IPP-Gelfand syndrome" EXACT [Orphanet:1006]
xref: GARD:18713 {source="MONDO:GARD"}
xref: MEDGEN:1683018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1006 {source="MONDO:equivalentTo"}
xref: UMLS:C5190867 {source="MEDGEN:1683018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="Orphanet:1006"} ! alopecia

[Term]
id: MONDO:0015083
name: nuclear oculomotor paralysis
comment: Editor note: see notes for supranuclear; Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: Orphanet:100932 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0001309 {source="Orphanet:100932"} ! oculomotor nerve paralysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0015084
name: FRAXF syndrome
def: "FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established." [Orphanet:100974]
subset: gard_rare {source="GARD:19769", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:100974"}
subset: orphanet_rare {source="Orphanet:100974"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19769 {source="MONDO:GARD"}
xref: MEDGEN:897295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100974 {source="MONDO:equivalentTo"}
xref: SCTID:716708005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897295"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 {source="Orphanet:100974", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary disease

[Term]
id: MONDO:0015085
name: bathing suit ichthyosis
def: "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body." [Orphanet:100976]
subset: gard_rare {source="GARD:16938", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100976"}
subset: orphanet_rare {source="Orphanet:100976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BSI" EXACT ABBREVIATION [Orphanet:100976]
xref: GARD:16938 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="Orphanet:100976", source="Orphanet:100976/attributed", source="Orphanet:100976/ntbt"}
xref: MEDGEN:1386460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100976 {source="MONDO:equivalentTo"}
xref: SCTID:725588002 {source="MONDO:equivalentTo"}
xref: UMLS:C4511230 {source="MEDGEN:1386460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="Orphanet:100976"} ! autosomal recessive congenital ichthyosis

[Term]
id: MONDO:0015086
name: cloverleaf skull-asphyxiating thoracic dysplasia syndrome
subset: gard_rare {source="GARD:853", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:100978"}
subset: ordo_malformation_syndrome {source="Orphanet:100978"}
subset: orphanet_rare {source="Orphanet:100978"}
subset: rare
synonym: "Benallegue Lacete syndrome" RELATED [GARD:0000853]
synonym: "Benallegue-Lacete syndrome" EXACT [Orphanet:100978]
synonym: "cloverleaf skull and asphyxiating thoracic dysplasia" RELATED [GARD:0000853]
xref: GARD:853 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:100978", source="Orphanet:100978/attributed", source="Orphanet:100978/ntbt"}
xref: MEDGEN:1674171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100978 {source="GARD:0000853", source="MONDO:equivalentTo"}
xref: UMLS:C5190852 {source="MEDGEN:1674171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015338 {source="Orphanet:100978"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:  3499843", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/853/benallegue-lacete-syndrome" xsd:anyURI {source="GARD:0000853"}

[Term]
id: MONDO:0015087
name: autosomal dominant complex spastic paraplegia
def: "Autosomal dominant form of complex hereditary spastic paraplegia." [MONDO:patterns/autosomal_dominant]
subset: disease_grouping
subset: gard_rare {source="GARD:19770", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:100979"}
subset: rare
synonym: "autosomal dominant complex hereditary spastic paraplegia" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant complex HSP" EXACT [Orphanet:100979]
synonym: "autosomal dominant complex SPG" EXACT [Orphanet:100979]
synonym: "autosomal dominant complicated HSP" EXACT [Orphanet:100979]
synonym: "autosomal dominant complicated spastic paraplegia" EXACT [Orphanet:100979]
synonym: "autosomal dominant complicated SPG" EXACT [Orphanet:100979]
synonym: "complex hereditary spastic paraplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:19770 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:100979/attributed", source="Orphanet:100979/ntbt", source="Orphanet:100979"}
xref: MEDGEN:1842369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100979 {source="MONDO:equivalentTo"}
xref: UMLS:C5680379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842369"}
is_a: MONDO:0015150 {source="MONDO:Redundant", source="Orphanet:100979"} ! complex hereditary spastic paraplegia
intersection_of: MONDO:0015150 ! complex hereditary spastic paraplegia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0015088
name: obsolete autosomal dominant pure spastic paraplegia
def: "OBSOLETE. Autosomal dominant form of pure hereditary spastic paraplegia." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:100980"}
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal dominant pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant pure HSP" EXACT [Orphanet:100980]
synonym: "autosomal dominant pure SPG" EXACT [Orphanet:100980]
synonym: "autosomal dominant uncomplicated HSP" EXACT [Orphanet:100980]
synonym: "autosomal dominant uncomplicated spastic paraplegia" EXACT [Orphanet:100980]
synonym: "autosomal dominant uncomplicated SPG" EXACT [Orphanet:100980]
synonym: "pure hereditary spastic paraplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:19771 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.4 {source="Orphanet:100980/attributed", source="Orphanet:100980/ntbt", source="Orphanet:100980"}
xref: Orphanet:100980 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015089
name: obsolete autosomal recessive complex spastic paraplegia
def: "OBSOLETE. Autosomal recessive form of complex hereditary spastic paraplegia." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:100981"}
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal recessive complex hereditary spastic paraplegia" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive complex HSP" EXACT [Orphanet:100981]
synonym: "autosomal recessive complex SPG" EXACT [Orphanet:100981]
synonym: "autosomal recessive complicated HSP" EXACT [Orphanet:100981]
synonym: "autosomal recessive complicated spastic paraplegia" EXACT [Orphanet:100981]
synonym: "autosomal recessive complicated SPG" EXACT [Orphanet:100981]
synonym: "complex hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:19772 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.4 {source="Orphanet:100981", source="Orphanet:100981/attributed", source="Orphanet:100981/ntbt"}
xref: Orphanet:100981 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015090
name: obsolete autosomal recessive pure spastic paraplegia
def: "OBSOLETE. Autosomal recessive form of pure hereditary spastic paraplegia." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:100982"}
synonym: "autosomal recessive pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern]
synonym: "autosomal recessive pure HSP" EXACT [Orphanet:100982]
synonym: "autosomal recessive pure SPG" EXACT [Orphanet:100982]
synonym: "autosomal recessive uncomplicated HSP" EXACT [Orphanet:100982]
synonym: "autosomal recessive uncomplicated spastic paraplegia" EXACT [Orphanet:100982]
synonym: "autosomal recessive uncomplicated SPG" EXACT [Orphanet:100982]
synonym: "pure hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:19773 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.4 {source="Orphanet:100982/attributed", source="Orphanet:100982/ntbt", source="Orphanet:100982"}
xref: Orphanet:100982 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015091
name: autosomal dominant spastic paraplegia type 9
def: "Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALDH18A1 autosomal dominant complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant spastic paraparesis" RELATED [GARD:0009583]
synonym: "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy" RELATED [GARD:0009583]
synonym: "cataracts, motor neuronopathy, short stature and skeletal abnormalities" RELATED [GARD:0009583]
synonym: "cataracts-motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [Orphanet:100990]
synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT [Orphanet:100990]
synonym: "spastic paraplegia 9" RELATED [GARD:0009583]
synonym: "SPG9" EXACT ABBREVIATION [Orphanet:100990]
xref: ICD10CM:G11.4 {source="Orphanet:100990", source="Orphanet:100990/attributed", source="Orphanet:100990/ntbt"}
xref: MEDGEN:322007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536868 {source="Orphanet:100990", source="Orphanet:100990/e"}
xref: Orphanet:100990 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1832669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322007"}
is_a: MONDO:0015087 {source="MONDO:Redundant", source="Orphanet:100990"} ! autosomal dominant complex spastic paraplegia
is_a: MONDO:0100126 {source="PMID:32017139", source="https://github.com/monarch-initiative/mondo/issues/1444"} ! P5CS deficiency
intersection_of: MONDO:0015087 ! autosomal dominant complex spastic paraplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 ! ALDH18A1

[Term]
id: MONDO:0015092
name: cleft hard palate
subset: gard_rare {source="GARD:19774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101023"}
subset: ordo_morphological_anomaly {source="Orphanet:101023"}
subset: orphanet_rare {source="Orphanet:101023"}
subset: rare
xref: GARD:19774 {source="MONDO:GARD"}
xref: ICD10CM:Q35.1 {source="Orphanet:101023", source="MONDO:equivalentTo", source="Orphanet:101023/e"}
xref: icd11.foundation:1047415764 {source="Orphanet:101023", source="MONDO:equivalentTo"}
xref: MEDGEN:609341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101023 {source="MONDO:equivalentTo"}
xref: SCTID:448915004 {source="MONDO:equivalentTo"}
xref: UMLS:C0432090 {source="MONDO:equivalentTo", source="MEDGEN:609341", source="MONDO:MEDGEN"}
is_a: MONDO:0016064 {source="Orphanet:101023"} ! cleft palate

[Term]
id: MONDO:0015093
name: sub-cortical nodular heterotopia
subset: gard_rare {source="GARD:19775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101029"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19775 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:101029", source="Orphanet:101029/attributed", source="Orphanet:101029/ntbt"}
xref: MEDGEN:1843064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101029 {source="MONDO:equivalentTo"}
xref: UMLS:C5681805 {source="MEDGEN:1843064", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016292 {source="Orphanet:101029"} ! nodular neuronal heterotopia

[Term]
id: MONDO:0015094
name: subependymal nodular heterotopia
subset: gard_rare {source="GARD:5050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101030"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:5050 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:101030/attributed", source="Orphanet:101030/ntbt", source="Orphanet:101030"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071150 {source="Orphanet:101030/e", source="Orphanet:101030"}
xref: MEDGEN:781340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101030 {source="MONDO:equivalentTo"}
xref: SCTID:699812002 {source="MONDO:equivalentTo"}
xref: UMLS:C3160906 {source="MEDGEN:781340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016292 {source="Orphanet:101030"} ! nodular neuronal heterotopia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia" xsd:anyURI {source="GARD:0005050"}

[Term]
id: MONDO:0015095
name: Peters anomaly-cataract syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:Q13.3 {source="Orphanet:101033", source="Orphanet:101033/attributed", source="Orphanet:101033/ntbt"}
xref: MEDGEN:419463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537885 {source="Orphanet:101033", source="MONDO:equivalentTo", source="Orphanet:101033/e"}
xref: Orphanet:101033 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2931652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419463"}
is_a: MONDO:0011414 {source="Orphanet:101033"} ! Peters anomaly

[Term]
id: MONDO:0015096
name: familial hypofibrinogenemia
def: "Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration." [Orphanet:101041]
subset: gard_rare {source="GARD:2887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypofibrinogenemia, familial" RELATED [GARD:0002887]
xref: GARD:2887 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:101041/attributed", source="Orphanet:101041/ntbt", source="Orphanet:101041"}
xref: MEDGEN:1826143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101041 {source="MONDO:equivalentTo"}
xref: UMLS:C5681803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826143"}
is_a: MONDO:0008737 ! congenital afibrinogenemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2887/hypofibrinogenemia-familial" xsd:anyURI {source="GARD:0002887"}

[Term]
id: MONDO:0015097
name: aortic valve dysplasia
subset: gard_rare {source="GARD:19776", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101043"}
subset: rare
xref: GARD:19776 {source="MONDO:GARD"}
xref: ICD10CM:Q23.0 {source="Orphanet:101043/ntbt", source="Orphanet:101043"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:576679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101043 {source="MONDO:equivalentTo"}
xref: SCTID:253604004 {source="MONDO:equivalentTo"}
xref: UMLS:C0344993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576679"}
is_a: MONDO:0017735 {source="Orphanet:101043"} ! congenital aortic valve stenosis

[Term]
id: MONDO:0015098
name: obsolete situs inversus totalis
synonym: "obsolete situs inversus totalis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete situs inversus totalis (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0010029

[Term]
id: MONDO:0015099
name: unilateral hemispheric polymicrogyria
subset: gard_rare {source="GARD:19777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101071"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19777 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:101071/attributed", source="Orphanet:101071/ntbt", source="Orphanet:101071"}
xref: MEDGEN:1842283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101071 {source="MONDO:equivalentTo"}
xref: UMLS:C5681804 {source="MEDGEN:1842283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017092 {source="Orphanet:101071"} ! unilateral polymicrogyria

[Term]
id: MONDO:0015100
name: aregenerative anemia
subset: gard_rare {source="GARD:19778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:19778 {source="MONDO:GARD"}
xref: MedDRA:10054329 {source="Orphanet:101096/e", source="Orphanet:101096"}
xref: MEDGEN:639969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101096 {source="MONDO:equivalentTo"}
xref: SCTID:89112009 {source="MONDO:equivalentTo"}
xref: UMLS:C0553669 {source="MEDGEN:639969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019453 {source="Orphanet:101096"} ! myelodysplastic syndrome with multilineage dysplasia

[Term]
id: MONDO:0015101
name: Marin-Amat syndrome
subset: gard_rare {source="GARD:19779", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:101104"}
subset: rare
xref: GARD:19779 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:101104/attributed", source="Orphanet:101104/ntbt", source="Orphanet:101104"}
xref: MEDGEN:1842834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101104 {source="MONDO:equivalentTo"}
xref: UMLS:C5681802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842834"}
is_a: MONDO:0007946 {source="Orphanet:101104"} ! jaw-winking syndrome

[Term]
id: MONDO:0015102
name: non-secreting chemodectoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "non-functioning chemodectoma" RELATED []
synonym: "non-secreting chemodectoma" EXACT []
xref: Orphanet:101106 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019788 {source="Orphanet:101106"} ! non-secreting paraganglioma
is_a: MONDO:0021053 {source="https://orcid.org/0000-0002-6601-2165"} ! carotid body paraganglioma

[Term]
id: MONDO:0015103
name: pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome
def: "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion." [Orphanet:101206]
subset: gard_rare {source="GARD:19780", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101206"}
subset: ordo_malformation_syndrome {source="Orphanet:101206"}
subset: orphanet_rare {source="Orphanet:101206"}
subset: rare
synonym: "absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome" EXACT [Orphanet:101206]
synonym: "APV/ADA, Fallot type" EXACT [Orphanet:101206]
synonym: "PVA/ADA, Fallot type" EXACT [Orphanet:101206]
xref: GARD:19780 {source="MONDO:GARD"}
xref: ICD10CM:Q22.2 {source="Orphanet:101206", source="Orphanet:101206/ntbt"}
xref: MEDGEN:1644090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101206 {source="MONDO:equivalentTo"}
xref: UMLS:C4707896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644090"}
is_a: MONDO:0020064 {source="Orphanet:101206"} ! pulmonary valve agenesis

[Term]
id: MONDO:0015104
name: porphyria cutanea tarda
def: "The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis." [https://orcid.org/0000-0001-5208-3432, Orphanet:101330]
comment: Editor notes: ORDO classifies as inherited but in fact many forms are inherited
subset: gard_rare {source="GARD:7433", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:101330"}
subset: orphanet_rare {source="Orphanet:101330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCT" EXACT ABBREVIATION [Orphanet:101330]
synonym: "porphyria cutania tarda" RELATED [ONCOTREE:PCT]
xref: DOID:3132 {source="MONDO:equivalentTo"}
xref: GARD:7433 {source="MONDO:GARD"}
xref: ICD10CM:E80.1 {source="DOID:3132", source="Orphanet:101330", source="Orphanet:101330/e", source="Orphanet:101330/specific"}
xref: icd11.foundation:370983230 {source="Orphanet:101330", source="MONDO:equivalentTo"}
xref: MedDRA:10036183 {source="Orphanet:101330", source="Orphanet:101330/e"}
xref: MEDGEN:56453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017119 {source="DOID:3132", source="Orphanet:101330", source="MONDO:equivalentTo", source="Orphanet:101330/e"}
xref: NANDO:1200816 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201267 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27725 {source="DOID:3132", source="MONDO:equivalentTo"}
xref: ONCOTREE:PCT {source="MONDO:equivalentTo"}
xref: Orphanet:101330 {source="DOID:3132", source="MONDO:equivalentTo"}
xref: SCTID:61860000 {source="DOID:3132", source="MONDO:equivalentTo"}
xref: UMLS:C0162566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56453"}
is_a: MONDO:0002406 {source="DOID:3132", source="NCIT:C27725"} ! dermatitis
is_a: MONDO:0002520 {source="DOID:3132", source="MESH:D017119"} ! hepatic porphyria
relationship: excluded_subClassOf MONDO:0019142 {source="MESH:D017119/inferred", source="MONDO:Redundant", source="NCIT:C27725", source="Orphanet:101330/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! inherited porphyria
relationship: excluded_subClassOf MONDO:0020266 {source="Orphanet:101330", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genodermatosis with ocular features

[Term]
id: MONDO:0015105
name: obsolete African tick typhus
is_obsolete: true
replaced_by: MONDO:0024472

[Term]
id: MONDO:0015106
name: obsolete rare urogenital disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101433"}
xref: GARD:22532 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101433 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015107
name: obsolete rare genetic eye disease
def: "OBSOLETE. A form of eye disease that is both rare and inborn." [MONDO:patterns/rare_genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101435"}
synonym: "rare genetic eye disease" EXACT []
synonym: "rare genetic ophthalmologic disease" EXACT [Orphanet:101435]
xref: GARD:19782 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101435 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005328

[Term]
id: MONDO:0015108
name: obsolete rare non-syndromic intellectual disability
def: "OBSOLETE. Rare non-syndromic intellectual disability." []
subset: ordo_disorder {source="Orphanet:101685"}
synonym: "rare intellectual disability without developmental anomaly" RELATED [GARD:0012633]
synonym: "rare non-syndromic intellectual deficiency" RELATED [GARD:0012633]
synonym: "rare non-syndromic intellectual disability" EXACT [MONDO:patterns/rare]
synonym: "rare NSID" EXACT [Orphanet:101685]
xref: GARD:19783 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101685 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000509

[Term]
id: MONDO:0015109
name: congenital anomaly of the mitral subvalvular apparatus
subset: gard_rare {source="GARD:19784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101932"}
subset: ordo_morphological_anomaly {source="Orphanet:101932"}
subset: orphanet_rare {source="Orphanet:101932"}
subset: rare
xref: GARD:19784 {source="MONDO:GARD"}
xref: ICD10CM:Q23.8 {source="Orphanet:101932", source="Orphanet:101932/ntbt"}
xref: icd11.foundation:498751490 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101932"}
xref: MEDGEN:756923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101932 {source="MONDO:equivalentTo"}
xref: UMLS:C3164517 {source="MEDGEN:756923", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019817 {source="Orphanet:101932"} ! congenital mitral valve insufficiency and/or stenosis
relationship: disease_has_location UBERON:0002135 ! mitral valve

[Term]
id: MONDO:0015110
name: obsolete genetic cardiac rhythm disease
def: "OBSOLETE. An instance of cardiac rhythm disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101934"}
synonym: "genetic cardiac rhythm disease" EXACT [MONDO:patterns/genetic]
xref: GARD:19785 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101934 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticFormOfDisease", source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0007263

[Term]
id: MONDO:0015111
name: obsolete gastroesophageal disease
subset: ordo_group_of_disorders {source="Orphanet:101936"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19786 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101936 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015112
name: obsolete rare pancreatic disease
def: "OBSOLETE. Any of the forms of pancreas disease that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101937"}
synonym: "rare pancreas disease" EXACT [MONDO:patterns/rare]
xref: GARD:19787 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101937 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002356

[Term]
id: MONDO:0015113
name: obsolete rare vascular liver disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101938"}
xref: GARD:19788 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101938 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015114
name: obsolete rare parenchymal liver disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101939"}
xref: GARD:19789 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101939 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015115
name: obsolete rare genetic metabolic liver disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101940"}
xref: GARD:19790 {source="MONDO:obsoleteEquivalent"}
xref: MedDRA:10019689 {source="Orphanet:101940", source="Orphanet:101940/e"}
xref: Orphanet:101940 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005066

[Term]
id: MONDO:0015116
name: obsolete rare biliary tract disease
def: "OBSOLETE. Rare biliary tract disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101941"}
synonym: "rare biliary tract disease" EXACT [MONDO:patterns/rare]
xref: GARD:19791 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101941 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004868

[Term]
id: MONDO:0015117
name: obsolete rare hepatic and biliary tract tumor
def: "OBSOLETE. Any of the forms of hepatobiliary neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101943"}
synonym: "rare hepatobiliary neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:19792 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101943 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002514

[Term]
id: MONDO:0015118
name: obsolete rare pulmonary disease
subset: ordo_group_of_disorders {source="Orphanet:101944"}
xref: GARD:19793 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101944 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
consider: MONDO:0005087
consider: MONDO:0005275

[Term]
id: MONDO:0015119
name: obsolete bronchopulmonary tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101945"}
synonym: "rare bronchopulmonary tumor" EXACT DEPRECATED []
xref: GARD:19794 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101945 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0020641

[Term]
id: MONDO:0015120
name: obsolete rare acquired eye disease
subset: disease_grouping
xref: Orphanet:101949 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015121
name: obsolete rare eye tumor
def: "OBSOLETE. Any of the forms of eye neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101950"}
synonym: "rare eye neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:19795 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101950 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021220

[Term]
id: MONDO:0015122
name: obsolete rare diabetes mellitus
def: "OBSOLETE. Rare diabetes mellitus." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101952"}
synonym: "rare diabetes mellitus" EXACT []
synonym: "rare diabetes mellitus (disease)" EXACT [MONDO:patterns/rare]
xref: GARD:19796 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101952 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005015

[Term]
id: MONDO:0015123
name: obsolete rare inherited dyslipidemia
def: "OBSOLETE. Rare lipid metabolism disorder." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101953"}
synonym: "rare dyslipidemia" RELATED [Orphanet:101953]
synonym: "rare lipid metabolism disorder" EXACT []
xref: GARD:19797 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E78.0 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: ICD10CM:E78.1 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: ICD10CM:E78.2 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: ICD10CM:E78.3 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: ICD10CM:E78.4 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: ICD10CM:E78.5 {source="MONDO:relatedTo", source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: ICD10CM:E78.6 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: ICD10CM:E78.8 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: ICD10CM:E78.9 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"}
xref: Orphanet:101953 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002525

[Term]
id: MONDO:0015124
name: obsolete rare adrenal disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101954"}
xref: GARD:19798 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101954 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005495

[Term]
id: MONDO:0015125
name: obsolete rare thyroid disease
def: "OBSOLETE. Rare thyroid disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101955"}
synonym: "rare thyroid disease" EXACT []
synonym: "rare thyroid gland disease" EXACT [MONDO:patterns/rare]
xref: GARD:19799 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101955 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003240

[Term]
id: MONDO:0015126
name: polyendocrinopathy
subset: disease_grouping
subset: gard_rare {source="GARD:19800", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:101956"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19800 {source="MONDO:GARD"}
xref: ICD10CM:E31.0 {source="Orphanet:101956/btnt", source="Orphanet:101956"}
xref: ICD10CM:E31.1 {source="Orphanet:101956/btnt", source="Orphanet:101956"}
xref: ICD10CM:E31.8 {source="Orphanet:101956/btnt", source="Orphanet:101956"}
xref: ICD10CM:E31.9 {source="Orphanet:101956/btnt", source="Orphanet:101956"}
xref: MEDGEN:1826133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:101956 {source="MONDO:equivalentTo"}
xref: UMLS:C5681797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826133"}
is_a: MONDO:0005151 {source="Orphanet:101956"} ! endocrine system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020005"} ! rare

[Term]
id: MONDO:0015127
name: pituitary deficiency
comment: Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes
subset: disease_grouping
subset: gard_rare {source="GARD:19801", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:101957"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19801 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:101957/e", source="MONDO:relatedTo", source="Orphanet:101957/specific", source="Orphanet:101957"}
xref: icd11.foundation:292840069 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101957"}
xref: Orphanet:101957 {source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted"} ! endocrine system disorder
relationship: excluded_subClassOf MONDO:0015968 {source="Orphanet:101957", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic hypothalamic or pituitary disease

[Term]
id: MONDO:0015128
name: primary adrenal insufficiency
def: "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary." [NCIT:C113172]
subset: disease_grouping
subset: gard_rare {source="GARD:19802", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:101958"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19802 {source="MONDO:GARD"}
xref: MedDRA:10052381 {source="Orphanet:101958/e", source="Orphanet:101958"}
xref: MEDGEN:854614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C113172 {source="MONDO:equivalentTo"}
xref: Orphanet:101958 {source="MONDO:equivalentTo"}
xref: UMLS:C3887896 {source="MEDGEN:854614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005495 {source="Orphanet:101958"} ! adrenal gland disorder
relationship: excluded_subClassOf MONDO:0000004 {source="NCIT:C113172", source="https://orcid.org/0000-0001-5208-3432"} ! adrenocortical insufficiency

[Term]
id: MONDO:0015129
name: chronic primary adrenal insufficiency
def: "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." [Orphanet:101959]
subset: disease_grouping
subset: gard_rare {source="GARD:19803", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:101959"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Addison disease" EXACT [DOID:13774, NCIT:C26689, OMIM:240200]
synonym: "Addison disease, chronic adrenal insufficiency" EXACT [DOID:13774]
synonym: "Addison's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C26689]
synonym: "adrenal aplasia" RELATED [OMIM:240200]
synonym: "adrenal gland hypofunction" RELATED [GARD:0005740]
synonym: "adrenal hypoplasia" RELATED [OMIM:240200]
synonym: "autoimmune Addison disease" EXACT [Orphanet:85138]
synonym: "autoimmune adrenalitis" EXACT [Orphanet:85138]
synonym: "autoimmune primary adrenal insufficiency" NARROW [NCIT:C113814]
synonym: "chronic adrenocorticoid insufficiency" EXACT [Orphanet:101959]
synonym: "classic Addison's disease" EXACT [Orphanet:85138]
synonym: "CPAI" EXACT ABBREVIATION [Orphanet:101959]
synonym: "hypoadrenocorticism familial" RELATED [GARD:0005740]
synonym: "hypoadrenocorticism, familial" EXACT [DOID:13774, OMIM:240200]
synonym: "primary Addison's disease" EXACT [Orphanet:85138]
synonym: "primary adrenal insufficiency, chronic" EXACT [MONDO:patterns/chronic]
synonym: "primary adrenocortical insufficiency" EXACT [DOID:13774]
synonym: "primary hypoadrenalism" EXACT [DOID:13774, NCIT:C26689]
xref: DOID:13774 {source="MONDO:equivalentTo"}
xref: GARD:19803 {source="MONDO:GARD"}
xref: ICD10CM:E27.1 {source="Orphanet:85138/ntbt", source="Orphanet:85138", source="DOID:13774"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10001130 {source="Orphanet:85138", source="Orphanet:85138/e"}
xref: MEDGEN:1324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000224 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:85138", source="MONDO:equivalentTo", source="Orphanet:85138/e", source="DOID:13774"}
xref: NANDO:1200411 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200359 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200360 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C113814
xref: NCIT:C26689 {source="MONDO:equivalentTo", source="DOID:13774"}
xref: OMIM:240200 {source="Orphanet:85138", source="MONDO:equivalentTo", source="Orphanet:85138/e", source="DOID:13774"}
xref: Orphanet:101959 {source="MONDO:equivalentTo"}
xref: Orphanet:85138 {source="OMIM:240200"}
xref: SCTID:111562000 {source="DOID:13774"}
xref: SCTID:154707007 {source="DOID:13774"}
xref: SCTID:267483004 {source="DOID:13774"}
xref: SCTID:363732003 {source="DOID:13774"}
xref: SCTID:367376006 {source="DOID:13774"}
xref: SCTID:373662000 {source="MONDO:equivalentTo", source="DOID:13774"}
xref: SCTID:68588005 {source="DOID:13774"}
xref: UMLS:C0001403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1324"}
is_a: MONDO:0000004 {source="DC-OMIM:240200", source="DOID:13774", source="MONDO:Redundant", source="NCIT:C113814/inferred"} ! adrenocortical insufficiency
is_a: MONDO:0015128 {source="MONDO:Redundant", source="NCIT:C26689", source="Orphanet:101959"} ! primary adrenal insufficiency
intersection_of: MONDO:0015128 ! primary adrenal insufficiency
intersection_of: has_characteristic PATO:0001863 ! chronic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1218" xsd:anyURI

[Term]
id: MONDO:0015130
name: obsolete acquired chronic primary adrenal insufficiency
def: "OBSOLETE. An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:101963"}
synonym: "acquired chronic primary adrenal insufficiency" EXACT [MONDO:patterns/acquired]
xref: GARD:19805 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101963 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015131
name: combined immunodeficiency
def: "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern." [NCIT:C27871]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19806", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:101972"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CID" EXACT ABBREVIATION [PMID:31953710]
synonym: "combined immunodeficiency" EXACT [DOID:628]
synonym: "combined T and B cell immunodeficiency" RELATED [Orphanet:101972]
synonym: "combined T cell and B cell immunodeficiency" RELATED [DOID:628]
synonym: "congenital combined immunodeficiency" EXACT [DOID:628, NCIT:C27871]
synonym: "X-linked combined immunodeficiency" NARROW [DOID:628]
xref: DOID:0111962 {source="MONDO:equivalentTo"}
xref: DOID:628 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:19806 {source="MONDO:GARD"}
xref: ICD10CM:D81 {source="DOID:628"}
xref: ICD10CM:D81.0 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.1 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.2 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.3 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.4 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.5 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.6 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.7 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.8 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="Orphanet:101972/specific"}
xref: ICD10CM:D81.9 {source="Orphanet:101972/btnt", source="Orphanet:101972", source="DOID:628", source="Orphanet:101972/specific"}
xref: icd11.foundation:1616506198 {source="Orphanet:101972", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:279.2 {source="DOID:628"}
xref: MEDGEN:751396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100203 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27871 {source="NCIT:C27871", source="DOID:628", source="MONDO:equivalentTo"}
xref: Orphanet:101972 {source="DOID:628", source="MONDO:equivalentTo"}
xref: SCTID:191003005 {source="DOID:628"}
xref: UMLS:C2711630 {source="MEDGEN:751396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="NCIT:C27871", source="Orphanet:101972/inferred"} ! hereditary disease
is_a: MONDO:0021094 {source="NCIT:C27871"} ! immunodeficiency disease

[Term]
id: MONDO:0015132
name: obsolete immunodeficiency predominantly affecting antibody production
subset: ordo_group_of_disorders {source="Orphanet:101977"}
xref: GARD:19807 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D80.0 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.1 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.2 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.3 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.4 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.5 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.6 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.7 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.8 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: ICD10CM:D80.9 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"}
xref: icd11.foundation:85074116 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101977"}
xref: Orphanet:101977 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015133
name: obsolete quantitative and/or qualitative congenital phagocyte defect
subset: ordo_group_of_disorders {source="Orphanet:101985"}
xref: GARD:19808 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101985 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015134
name: constitutional neutropenia
def: "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." [NCIT:C61242]
subset: disease_grouping
subset: gard_rare {source="GARD:19809", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:101987"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital neutropenia" EXACT [NCIT:C61242]
synonym: "genetic infantile agranulocytosis" EXACT [NCIT:C61242]
synonym: "infantile genetic agranulocytosis" EXACT [NCIT:C61242]
synonym: "Kostmann disease" NARROW [NCIT:C61242]
synonym: "Kostmann neutropenia" NARROW [NCIT:C61242]
synonym: "Kostmann syndrome" NARROW [NCIT:C61242]
xref: GARD:19809 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="MONDO:relatedTo", source="Orphanet:101987", source="Orphanet:101987/attributed", source="Orphanet:101987/ntbt"}
xref: icd11.foundation:87096615 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101987"}
xref: MEDGEN:1785816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C61242 {source="MONDO:equivalentTo"}
xref: Orphanet:101987 {source="MONDO:equivalentTo"}
xref: UMLS:C3805116 {source="MEDGEN:1785816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001475 {source="https://orcid.org/0000-0001-5208-3432"} ! neutropenia
is_a: MONDO:0009332 {source="NCIT:C61242"} ! congenital hematological disorder

[Term]
id: MONDO:0015135
name: obsolete primary immunodeficiency due to a genetic defect in innate immunity
subset: ordo_group_of_disorders {source="Orphanet:101988"}
synonym: "primary immunodeficiency due to a defect in innate immunity" RELATED [Orphanet:101988]
xref: GARD:19810 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:551037838 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101988"}
xref: Orphanet:101988 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015136
name: obsolete immunodeficiency due to a genetic complement cascade protein anomaly
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease'
subset: ordo_group_of_disorders {source="Orphanet:101992"}
synonym: "immunodeficiency due to a complement cascade protein anomaly" RELATED [Orphanet:101992]
xref: GARD:19811 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D84.1 {source="Orphanet:101992", source="Orphanet:101992/e", source="Orphanet:101992/specific"}
xref: icd11.foundation:1222145690 {source="Orphanet:101992", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"}
xref: Orphanet:101992 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003778

[Term]
id: MONDO:0015137
name: periodic fever syndrome
def: "Fevers of unknown etiology recurring over months or years." [NCIT:C118240]
subset: disease_grouping
subset: gard_rare {source="GARD:19812", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:101995"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19812 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:101995/ntbt", source="Orphanet:101995"}
xref: MedDRA:10034533 {source="Orphanet:101995", source="Orphanet:101995/e"}
xref: MEDGEN:855463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118240 {source="MONDO:equivalentTo"}
xref: Orphanet:101995 {source="MONDO:equivalentTo"}
xref: UMLS:C3889979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:855463"}
is_a: MONDO:0002254 {source="NCIT:C118240"} ! syndromic disease
is_a: MONDO:0019751 {source="Orphanet:101995"} ! autoinflammatory syndrome

[Term]
id: MONDO:0015138
name: obsolete rare genetic primary immunodeficiency
subset: disease_grouping
synonym: "primary immunodeficiency" RELATED [Orphanet:101997]
xref: GARD:19813 {source="MONDO:obsoleteEquivalent"}
xref: MedDRA:10064859 {source="Orphanet:101997", source="Orphanet:101997/e"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003778

[Term]
id: MONDO:0015139
name: obsolete rare epilepsy
def: "OBSOLETE. Rare epilepsy." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101998"}
synonym: "rare epilepsy" EXACT [MONDO:patterns/rare]
xref: GARD:19814 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G40.0 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.1 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.2 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.3 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.4 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.5 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.6 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.7 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.8 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: ICD10CM:G40.9 {source="Orphanet:101998", source="Orphanet:101998/ntbt"}
xref: Orphanet:101998 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005027

[Term]
id: MONDO:0015140
name: early-onset autosomal dominant Alzheimer disease
def: "A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." [https://orcid.org/0000-0001-5208-3432, Orphanet:1020]
subset: gard_rare {source="GARD:12798", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1020"}
subset: orphanet_rare {source="Orphanet:1020"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset familial autosomal dominant Alzheimer disease" EXACT [GARD:0012798, Orphanet:1020]
synonym: "early-onset, autosomal dominant Alzheimer disease" RELATED [GARD:0012798]
synonym: "EOFAD" EXACT ABBREVIATION [GARD:0012798, https://www.ncbi.nlm.nih.gov/books/NBK1236/, Orphanet:1020]
xref: GARD:12798 {source="MONDO:GARD"}
xref: ICD10CM:G30.0 {source="Orphanet:1020/attributed", source="Orphanet:1020/ntbt", source="Orphanet:1020"}
xref: Orphanet:1020 {source="MONDO:equivalentTo"}
is_a: MONDO:0004975 {source="Orphanet:1020"} ! Alzheimer disease
is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:1020", source="Orphanet:1020/inferred"} ! hereditary dementia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:1020", source="Orphanet:1020/inferred"} ! inherited neurodegenerative disorder
is_a: MONDO:0100087 {source="https://github.com/monarch-initiative/mondo/issues/2458", source="https://orcid.org/0000-0001-6330-7526"} ! familial Alzheimer disease
relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:1020"} ! dementia
relationship: has_characteristic HP:0000006 {source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0015141
name: obsolete disorder of medulla oblongata
def: "OBSOLETE. A disease that involves the medulla oblongata." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:102000"}
synonym: "disease of medulla oblongata" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of medulla oblongata" EXACT []
synonym: "disorder of medulla oblongata" EXACT [MONDO:patterns/location_top]
synonym: "medulla oblongata disease" EXACT [MONDO:design_pattern]
synonym: "medulla oblongata disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "medullar disease" RELATED [Orphanet:102000]
xref: GARD:19815 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:102000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015142
name: obsolete ataxia syndrome
is_obsolete: true
replaced_by: MONDO:0000437

[Term]
id: MONDO:0015143
name: obsolete rare movement disorder
def: "OBSOLETE. Rare movement disorder." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:102003"}
synonym: "rare movement disorder" EXACT [MONDO:patterns/rare]
xref: GARD:19817 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:102003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0015144
name: obsolete brain inflammatory disease
def: "OBSOLETE. An inflammatory disease involving a pathogenic inflammatory response in the brain." [MONDO:patterns/inflammatory_disease_by_site]
subset: ordo_group_of_disorders {source="Orphanet:102005"}
subset: otar {source="MONDO:OTAR"}
synonym: "brain inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of brain" EXACT []
xref: GARD:19818 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G00-G09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:102005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015145
name: obsolete neurovascular malformation
subset: ordo_group_of_disorders {source="Orphanet:102006"}
xref: GARD:19819 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:102006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015146
name: classic lissencephaly
subset: disease_grouping
subset: gard_rare {source="GARD:5049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:102009"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ILS" RELATED ABBREVIATION [GARD:0005049]
synonym: "lissencephaly classic" RELATED [GARD:0005049]
synonym: "lissencephaly sequence isolated" RELATED [GARD:0005049]
synonym: "lissencephaly type 1" EXACT [Orphanet:102009]
xref: GARD:5049 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:102009/inclusion", source="Orphanet:102009", source="Orphanet:102009/ntbt"}
xref: MEDGEN:98463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201068 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1201069 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:102009 {source="MONDO:equivalentTo"}
xref: UMLS:C0431375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98463"}
is_a: MONDO:0018838 {source="Orphanet:102009"} ! lissencephaly spectrum disorders

[Term]
id: MONDO:0015147
name: obsolete other syndrome with lissencephaly as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:102010"}
xref: GARD:19820 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.3 {source="Orphanet:102010/attributed", source="Orphanet:102010/ntbt", source="Orphanet:102010"}
xref: icd11.foundation:805385297 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:102010"}
xref: Orphanet:102010 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015148
name: lissencephaly type 3
subset: disease_grouping
subset: gard_rare {source="GARD:19821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:102011"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0112232 {source="MONDO:equivalentTo"}
xref: GARD:19821 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:102011/ntbt", source="Orphanet:102011/inclusion", source="Orphanet:102011"}
xref: MEDGEN:369910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:102011 {source="MONDO:equivalentTo"}
xref: UMLS:C1969029 {source="MEDGEN:369910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018838 {source="Orphanet:102011"} ! lissencephaly spectrum disorders

[Term]
id: MONDO:0015149
name: pure hereditary spastic paraplegia
subset: disease_grouping
subset: gard_rare {source="GARD:19822", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:102012"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pure familial spastic paraplegia" EXACT [Orphanet:102012]
synonym: "Pure HSP" EXACT [Orphanet:102012]
synonym: "Pure SPG" EXACT [Orphanet:102012]
synonym: "uncomplicated familial spastic paraplegia" EXACT [Orphanet:102012]
synonym: "uncomplicated hereditary spastic paraplegia" EXACT [Orphanet:102012]
synonym: "uncomplicated HSP" EXACT [Orphanet:102012]
synonym: "uncomplicated SPG" EXACT [Orphanet:102012]
xref: GARD:19822 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:102012", source="Orphanet:102012/attributed", source="Orphanet:102012/ntbt"}
xref: MEDGEN:581445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200053 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:102012 {source="MONDO:equivalentTo"}
xref: SCTID:230260007 {source="MONDO:equivalentTo"}
xref: UMLS:C0393555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581445"}
is_a: MONDO:0019064 {source="Orphanet:102012"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0015150
name: complex hereditary spastic paraplegia
def: "A hereditary spastic paraplegia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19823", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:102013"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Complex familial spastic paraplegia" EXACT [Orphanet:102013]
synonym: "Complex HSP" EXACT [Orphanet:102013]
synonym: "Complex SPG" EXACT [Orphanet:102013]
synonym: "complicated familial spastic paraplegia" EXACT [Orphanet:102013]
synonym: "complicated hereditary spastic paraplegia" EXACT [Orphanet:102013]
synonym: "complicated HSP" EXACT [Orphanet:102013]
synonym: "complicated SPG" EXACT [Orphanet:102013]
synonym: "syndrome associated with hereditary spastic paraplegia" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic hereditary spastic paraplegia" EXACT [MONDO:patterns/syndromic]
xref: GARD:19823 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:102013", source="Orphanet:102013/attributed", source="Orphanet:102013/ntbt"}
xref: MEDGEN:581446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200054 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:102013 {source="MONDO:equivalentTo"}
xref: SCTID:230261006 {source="MONDO:equivalentTo"}
xref: UMLS:C0393556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581446"}
is_a: MONDO:0019064 {source="MONDO:Redundant", source="Orphanet:102013"} ! hereditary spastic paraplegia
intersection_of: MONDO:0019064 ! hereditary spastic paraplegia
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation

[Term]
id: MONDO:0015151
name: muscular dystrophy, limb-girdle, autosomal dominant
def: "Autosomal dominant form of limb-girdle muscular dystrophy." [MONDO:patterns/autosomal_dominant]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19824", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:102014"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "limb-girdle muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "muscular dystrophy, limb-girdle, autosomal dominant" EXACT CLINGEN_LABEL [OMIMPS:159000]
xref: DOID:0110273 {source="MONDO:equivalentTo"}
xref: GARD:19824 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:102014/attributed", source="Orphanet:102014/ntbt", source="Orphanet:102014", source="DOID:0110273"}
xref: icd11.foundation:537908479 {source="Orphanet:102014", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:1826162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:159000 {source="DOID:0110273", source="MONDO:nonExistent"}
xref: OMIMPS:603511 {source="MONDO:equivalentTo"}
xref: Orphanet:102014 {source="MONDO:equivalentTo", source="DOID:0110273"}
xref: UMLS:C5675009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826162"}
is_a: MONDO:0016971 {source="DOID:0110273", source="MONDO:Redundant", source="Orphanet:102014"} ! limb-girdle muscular dystrophy
intersection_of: MONDO:0016971 ! limb-girdle muscular dystrophy
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603511"} ! inherited

[Term]
id: MONDO:0015152
name: autosomal recessive limb-girdle muscular dystrophy
def: "Autosomal recessive form of limb-girdle muscular dystrophy." [MONDO:patterns/autosomal_recessive]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19825", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:102015"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive limb-girdle muscular dystrophy" EXACT CLINGEN_LABEL []
synonym: "limb-girdle muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive" EXACT [OMIMPS:253600]
xref: DOID:0110274 {source="MONDO:equivalentTo"}
xref: GARD:19825 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:102015", source="Orphanet:102015/attributed", source="Orphanet:102015/ntbt", source="DOID:0110274"}
xref: icd11.foundation:319162980 {source="Orphanet:102015", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:419194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538640 {source="MONDO:equivalentTo"}
xref: OMIMPS:253600 {source="MONDO:equivalentTo", source="DOID:0110274"}
xref: Orphanet:102015 {source="MONDO:equivalentTo", source="DOID:0110274"}
xref: UMLS:C2931907 {source="MEDGEN:419194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016971 {source="DOID:0110274", source="MESH:C538640", source="MONDO:Redundant", source="Orphanet:102015"} ! limb-girdle muscular dystrophy
intersection_of: MONDO:0016971 ! limb-girdle muscular dystrophy
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:253600"} ! inherited

[Term]
id: MONDO:0015153
name: obsolete autosomal monosomy
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:102020"}
synonym: "autosomal deletion" EXACT [Orphanet:102020]
xref: GARD:19826 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q93.0 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: ICD10CM:Q93.1 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: ICD10CM:Q93.2 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: ICD10CM:Q93.3 {source="MONDO:relatedTo", source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: ICD10CM:Q93.4 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: ICD10CM:Q93.5 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: ICD10CM:Q93.7 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: ICD10CM:Q93.8 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: ICD10CM:Q93.9 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"}
xref: Orphanet:102020 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015154
name: obsolete rickettsial disease
is_obsolete: true
replaced_by: MONDO:0006956

[Term]
id: MONDO:0015155
name: obsolete spotted fever rickettsiosis
is_obsolete: true
replaced_by: MONDO:0001195

[Term]
id: MONDO:0015156
name: obsolete typhus-group rickettsiosis
is_obsolete: true
replaced_by: MONDO:0001246

[Term]
id: MONDO:0015157
name: human herpesvirus 8-related tumor
comment: Editor note: TODO check this
subset: disease_grouping
subset: gard_rare {source="GARD:19830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:102024"}
subset: rare
synonym: "HHV-8-related disorder" EXACT [Orphanet:102024]
xref: GARD:19830 {source="MONDO:GARD"}
xref: MEDGEN:1843228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:102024 {source="MONDO:equivalentTo"}
xref: UMLS:C5680371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843228"}
is_a: MONDO:0017341 {source="Orphanet:102024"} ! virus associated tumor
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_feature MONDO:0005187 ! human herpesvirus 8 infection

[Term]
id: MONDO:0015158
name: unexplained periodic fever syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:19831", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:102237"}
subset: rare
xref: GARD:19831 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:102237/ntbt", source="Orphanet:102237"}
xref: MEDGEN:1842497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:102237 {source="MONDO:equivalentTo"}
xref: UMLS:C5681779 {source="MONDO:equivalentTo", source="MEDGEN:1842497", source="MONDO:MEDGEN"}
is_a: MONDO:0015137 {source="Orphanet:102237"} ! periodic fever syndrome

[Term]
id: MONDO:0015159
name: multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subset: disease_grouping
subset: gard_rare {source="GARD:19832", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:102283"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCA/MR" EXACT [Orphanet:102283]
synonym: "multiple congenital anomalies-intellectual disability with or without dysmorphism" EXACT [Orphanet:102283]
synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT CLINGEN_LABEL []
xref: GARD:19832 {source="MONDO:GARD"}
xref: MEDGEN:1826158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:102283 {source="MONDO:equivalentTo"}
xref: UMLS:C5680372 {source="MEDGEN:1826158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019042 {source="Orphanet:102283"} ! multiple congenital anomalies/dysmorphic syndrome
is_a: MONDO:0021147 {source="Orphanet:102283", source="Orphanet:102283/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015160
name: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MCA/variable MR" EXACT [Orphanet:102284]
synonym: "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" EXACT [Orphanet:102284]
xref: Orphanet:102284 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019042 {source="Orphanet:102284"} ! multiple congenital anomalies/dysmorphic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015161
name: multiple congenital anomalies/dysmorphic syndrome without intellectual disability
subset: disease_grouping
subset: gard_rare {source="GARD:19833", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:102285"}
subset: rare
synonym: "MCA without intellectual disability" EXACT [Orphanet:102285]
synonym: "multiple congenital anomalies without intellectual disability with or without dysmorphism" EXACT [Orphanet:102285]
xref: GARD:19833 {source="MONDO:GARD"}
xref: MEDGEN:1842829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:102285 {source="MONDO:equivalentTo"}
xref: UMLS:C5680373 {source="MEDGEN:1842829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019042 {source="Orphanet:102285"} ! multiple congenital anomalies/dysmorphic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015162
name: obsolete rare syndromic intellectual disability
def: "OBSOLETE. Rare syndromic intellectual disability." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:102369"}
synonym: "rare syndromic intellectual disability" EXACT [MONDO:patterns/rare]
xref: GARD:19834 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:102369 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000508

[Term]
id: MONDO:0015163
name: obsolete primary glomerular disease
xref: Orphanet:102373 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0019722

[Term]
id: MONDO:0015164
name: acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
def: "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain)." [Orphanet:102379]
subset: gard_rare {source="GARD:19835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:102379"}
subset: orphanet_rare {source="Orphanet:102379"}
subset: rare
synonym: "AML and myelodysplastic syndromes related to alkylating agent" EXACT [Orphanet:102379]
xref: GARD:19835 {source="MONDO:GARD"}
xref: MEDGEN:233970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:102379 {source="MONDO:equivalentTo"}
xref: UMLS:C1332234 {source="MEDGEN:233970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019457 {source="Orphanet:102379"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015165
name: acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
def: "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement." [Orphanet:102381]
subset: gard_rare {source="GARD:19836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:102381"}
subset: orphanet_rare {source="Orphanet:102381"}
subset: rare
synonym: "AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" EXACT [Orphanet:102381]
xref: GARD:19836 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:102381", source="Orphanet:102381/ntbt"}
xref: MEDGEN:1639654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:102381 {source="MONDO:equivalentTo"}
xref: UMLS:C4707659 {source="MEDGEN:1639654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019457 {source="Orphanet:102381"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015166
name: acute myeloid leukemia with t(8;21)(q22;q22) translocation
subset: gard_rare {source="GARD:19837", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:102724"}
subset: orphanet_rare {source="Orphanet:102724"}
subset: rare
synonym: "AML with t(8;21)(q22;q22) translocation" EXACT [Orphanet:102724]
xref: GARD:19837 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:102724", source="Orphanet:102724/ntbt"}
xref: MEDGEN:224862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:102724 {source="MONDO:equivalentTo"}
xref: UMLS:C1292774 {source="MEDGEN:224862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="Orphanet:102724"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015167
name: amniotic band syndrome
def: "A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies." [https://orcid.org/0000-0001-5208-3432, Orphanet:1034]
subset: disease_grouping
subset: gard_rare {source="GARD:429", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:766"}
subset: ordo_disorder {source="Orphanet:295000"}
subset: ordo_malformation_syndrome {source="Orphanet:295000"}
subset: orphanet_rare {source="Orphanet:295000"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adam Complex" RELATED [OMIM:217100]
synonym: "Adam syndrome" EXACT [Orphanet:1034]
synonym: "amniotic band constriction" EXACT [NCIT:C84552]
synonym: "amniotic band sequence" RELATED [OMIM:217100]
synonym: "amniotic bands" EXACT []
synonym: "amniotic bands sequence" RELATED [GARD:0000429]
synonym: "amniotic deformity-adhesion-mutilation syndrome" EXACT [Orphanet:1034]
synonym: "amputation, congenital" RELATED [OMIM:217100]
synonym: "congenital constricting bands" RELATED [GARD:0000429]
synonym: "congenital ring constrictions" EXACT [Orphanet:295000]
synonym: "CONSTRICTING bands, congenital" RELATED [OMIM:217100]
synonym: "constriction band syndrome" EXACT [Orphanet:295000]
synonym: "constriction rings syndrome" EXACT [MONDO:0009011]
synonym: "deformity due to amniotic band" EXACT [NCIT:C84552]
synonym: "familial amniotic bands" RELATED [GARD:0000429]
synonym: "Streeter anomaly" RELATED [OMIM:217100]
synonym: "Streeter dysplasia" EXACT [Orphanet:295000]
synonym: "terminal transverse defects of arm" RELATED [OMIM:217100]
xref: GARD:429 {source="MONDO:GARD"}
xref: ICD10CM:Q79.8 {source="Orphanet:295000/attributed", source="Orphanet:295000/ntbt", source="Orphanet:295000", xref="Orphanet:1034", xref="Orphanet:1034/attributed", xref="Orphanet:1034/ntbt"}
xref: icd11.foundation:1033549095 {source="Orphanet:295000", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:66322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000652 {source="Orphanet:1034", source="MONDO:equivalentTo", source="Orphanet:1034/e"}
xref: NCIT:C84552 {source="MONDO:equivalentTo"}
xref: NORD:766 {source="MONDO:NORD"}
xref: OMIM:217100 {source="Orphanet:295000", source="MONDO:equivalentTo", source="Orphanet:295000/e"}
xref: Orphanet:1034 {source="MONDO:equivalentObsolete"}
xref: Orphanet:295000 {source="OMIM:217100", source="MONDO:equivalentTo"}
xref: Orphanet:93937 {source="OMIM:217100"}
xref: SCTID:440214006 {source="MONDO:equivalentTo"}
xref: UMLS:C0220724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66322"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:18948051", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:18948051", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5001" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015168
name: arthrogryposis multiplex congenita
def: "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures." [Orphanet:1037]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:810"}
subset: ordo_group_of_disorders {source="Orphanet:1037"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMC" EXACT ABBREVIATION [Orphanet:1037]
synonym: "amyoplasia congenita" RELATED [Orphanet:1037]
synonym: "arthrogryposis multiplex congenita" EXACT CLINGEN_LABEL []
synonym: "Arthromyodysplasia congenita" EXACT [Orphanet:1037]
synonym: "congenital amyoplasia" RELATED [Orphanet:1037]
synonym: "congenital arthromyodysplasia" EXACT [Orphanet:1037]
synonym: "fibrous ankylosis of multiple joints" RELATED [GARD:0000777]
synonym: "Guerin-Stern syndrome" RELATED [GARD:0000777]
synonym: "Guérin-Stern syndrome" RELATED [GARD:0000777]
synonym: "multiple congenital arthrogryposis" EXACT [Orphanet:1037]
synonym: "myodysplasia" EXACT [Orphanet:1037]
synonym: "myodystrophia fetalis deformans" RELATED [GARD:0000777]
synonym: "Otto syndrome" RELATED [GARD:0000777]
synonym: "rocher-Sheldon syndrome" RELATED [GARD:0000777]
synonym: "Rossi syndrome" RELATED [GARD:0000777]
xref: DOID:0080954 {source="MONDO:equivalentTo"}
xref: GARD:777 {source="MONDO:GARD"}
xref: ICD10CM:Q74.3 {source="Orphanet:1037", source="Orphanet:1037/e", source="Orphanet:1037/specific"}
xref: icd11.foundation:1930990330 {source="Orphanet:1037", source="MONDO:equivalentTo"}
xref: MedDRA:10051643 {source="Orphanet:1037", source="Orphanet:1037/e"}
xref: MEDGEN:1830310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536613 {source="Orphanet:1037", source="Orphanet:1037/e"}
xref: NORD:810 {source="MONDO:NORD"}
xref: OMIMPS:617468 {source="MONDO:equivalentTo"}
xref: Orphanet:1037 {source="MONDO:equivalentTo"}
xref: UMLS:C5779613 {source="MEDGEN:1830310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015225 {source="Orphanet:1037"} ! arthrogryposis syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617468"} ! inherited

[Term]
id: MONDO:0015169
name: chronic diarrhea due to glucoamylase deficiency
def: "This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency." [Orphanet:103907]
subset: gard_rare {source="GARD:19838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:103907"}
subset: orphanet_rare {source="Orphanet:103907"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic diarrhea due to glucoamylase deficiency" EXACT []
synonym: "maltase glucoamylase deficiency" RELATED []
synonym: "maltase-glucoamylase deficiency" EXACT [Orphanet:103907]
xref: GARD:19838 {source="MONDO:GARD"}
xref: ICD10CM:E74.3 {source="Orphanet:103907/attributed", source="Orphanet:103907/ntbt", source="Orphanet:103907"}
xref: icd11.foundation:2084206046 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:103907"}
xref: MEDGEN:898614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200911 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:103907 {source="MONDO:equivalentTo"}
xref: SCTID:716277000 {source="MONDO:equivalentTo"}
xref: UMLS:C4275068 {source="MEDGEN:898614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017706 {source="Orphanet:103907"} ! disorder of carbohydrate transmembrane transport and absorption
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: disease_has_basis_in_disruption_of GO:0004339 ! glucan 1,4-alpha-glucosidase activity
relationship: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0015170
name: congenital sodium diarrhea
def: "Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis." [Orphanet:103908]
subset: gard_rare {source="GARD:16945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:103908"}
subset: orphanet_rare {source="Orphanet:103908"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Na-H exchange deficiency" EXACT [Orphanet:103908]
xref: GARD:16945 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="Orphanet:103908/attributed", source="Orphanet:103908/ntbt", source="Orphanet:103908"}
xref: MEDGEN:78632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:103908 {source="MONDO:equivalentTo"}
xref: SCTID:18805001 {source="MONDO:equivalentTo"}
xref: UMLS:C0267663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78632"}
is_a: MONDO:0000824 ! congenital diarrhea
relationship: disease_disrupts GO:0055078 ! sodium ion homeostasis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015171
name: congenital enterocyte heparan sulfate deficiency
def: "Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life." [Orphanet:103910]
subset: gard_rare {source="GARD:19839", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:103910"}
subset: orphanet_rare {source="Orphanet:103910"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19839 {source="MONDO:GARD"}
xref: ICD10CM:P78.3 {source="Orphanet:103910", source="Orphanet:103910/attributed", source="Orphanet:103910/ntbt"}
xref: MEDGEN:1373054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:103910 {source="MONDO:equivalentTo"}
xref: SCTID:725591002 {source="MONDO:equivalentTo"}
xref: UMLS:C4511238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373054"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0005020 {source="https://orcid.org/0000-0002-3458-4839"} ! intestinal disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0015172
name: obsolete epithelio-exfoliative colitis-deafness syndrome
def: "OBSOLETE. This syndrome is characterized by the association of severe congenital colitis with sensorineural deafness." [Orphanet:103912]
comment: Obsolete in Orphanet
xref: ICD10CM:P78.3 {source="Orphanet:103912", source="Orphanet:103912/attributed", source="Orphanet:103912/ntbt"}
xref: Orphanet:103912 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0015173
name: obsolete autoimmune enteropathy type 2
comment: Obsolete in Orphanet
xref: ICD10CM:K52.8 {source="Orphanet:103916/ntbt", source="Orphanet:103916"}
xref: Orphanet:103916 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:522043
is_obsolete: true

[Term]
id: MONDO:0015174
name: autoimmune enteropathy type 3
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:K52.8 {source="Orphanet:103917/ntbt", source="Orphanet:103917"}
xref: Orphanet:103917 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019787 {source="Orphanet:103917"} ! autoimmune enteropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0015175
name: autoimmune pancreatitis
def: "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." [Orphanet:103919]
subset: gard_rare {source="GARD:10911", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:103919"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIP" EXACT ABBREVIATION [Orphanet:103919]
synonym: "lymphoplasmocytic sclerosing pancreatitis" RELATED [GARD:0010911]
xref: DOID:0040091 {source="MONDO:equivalentTo"}
xref: GARD:10911 {source="MONDO:GARD"}
xref: ICD10CM:K86.1 {source="Orphanet:103919/ntbt", source="Orphanet:103919"}
xref: icd11.foundation:2057951941 {source="MONDO:equivalentTo", source="Orphanet:103919"}
xref: MedDRA:10069002 {source="Orphanet:103919/e", source="Orphanet:103919"}
xref: MEDGEN:750633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000081012 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:1200925 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200943 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:103919 {source="MONDO:equivalentTo"}
xref: SCTID:2898300013 {source="DOID:0040091"}
xref: SCTID:448542008 {source="MONDO:equivalentTo"}
xref: UMLS:C2609129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:750633"}
is_a: MONDO:0000569 {source="DOID:0040091", source="MONDO:Redundant"} ! autoimmune disorder of endocrine system
is_a: MONDO:0002356 {source="DOID:0040091", source="Orphanet:103919"} ! pancreas disorder
is_a: MONDO:0017287 {source="Orphanet:103919"} ! IgG4-related disease
intersection_of: MONDO:0004982 ! pancreatitis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0015176
name: undetermined colitis
def: "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." [Orphanet:103920]
subset: gard_rare {source="GARD:19840", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:103920"}
subset: orphanet_rare {source="Orphanet:103920"}
subset: rare
xref: GARD:19840 {source="MONDO:GARD"}
xref: ICD10CM:K52.3 {source="MONDO:relatedTo", source="Orphanet:103920", source="Orphanet:103920/e"}
xref: icd11.foundation:553916326 {source="Orphanet:103920", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:1842621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:103920 {source="MONDO:equivalentTo"}
xref: UMLS:C5681748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842621"}
is_a: MONDO:0005265 {source="Orphanet:103920"} ! inflammatory bowel disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015187"} ! rare

[Term]
id: MONDO:0015177
name: metaphyseal anadysplasia
def: "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." [Orphanet:1040]
subset: gard_rare {source="GARD:3562", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1040"}
subset: orphanet_rare {source="Orphanet:1040"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset regressive form of metaphyseal dysplasia" RELATED [GARD:0003562]
synonym: "MAD" RELATED ABBREVIATION [GARD:0003562]
synonym: "Maroteaux Verloes Stanescu syndrome" RELATED [GARD:0003562]
synonym: "Maroteaux-Verloes-Stanescu syndrome" EXACT [Orphanet:1040]
synonym: "regressive metaphyseal dysplasia" EXACT [GARD:0003562, Orphanet:1040]
xref: GARD:3562 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:1040/attributed", source="Orphanet:1040/ntbt", source="Orphanet:1040"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537351 {source="Orphanet:1040/e", source="MONDO:equivalentTo", source="Orphanet:1040"}
xref: OMIM:309645 {source="MONDO:equivalentObsolete", source="GARD:0003562"}
xref: Orphanet:1040 {source="MONDO:equivalentTo"}
xref: SCTID:254085009 {source="MONDO:equivalentTo"}
xref: UMLS:C0432226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96582"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:1867263", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia" xsd:anyURI {source="GARD:0003562"}

[Term]
id: MONDO:0015178
name: obsolete congenital intestinal transport defect
subset: ordo_group_of_disorders {source="Orphanet:104003"}
xref: GARD:19841 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:671778206 {source="Orphanet:104003", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"}
xref: Orphanet:104003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015179
name: obsolete intestinal disease due to vitamin absorption anomaly
subset: ordo_group_of_disorders {source="Orphanet:104004"}
xref: GARD:19842 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:104004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015180
name: obsolete intestinal disease due to fat malabsorption
subset: ordo_group_of_disorders {source="Orphanet:104005"}
xref: GARD:19843 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:104005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015181
name: obsolete congenital intestinal disease due to an enzymatic defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: intestinal disease'
subset: ordo_group_of_disorders {source="Orphanet:104006"}
xref: GARD:19844 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:104006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0005020

[Term]
id: MONDO:0015182
name: obsolete congenital enteropathy involving intestinal mucosa development
subset: ordo_group_of_disorders {source="Orphanet:104007"}
xref: GARD:19845 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:104007 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015183
name: short bowel syndrome
def: "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." [Orphanet:104008]
subset: disease_grouping
subset: gard_rare {source="GARD:1502", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1708"}
subset: ordo_group_of_disorders {source="Orphanet:104008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired short bowel syndrome" EXACT [DOID:10605]
synonym: "short gut syndrome" EXACT [DOID:10605]
xref: DOID:10605 {source="MONDO:equivalentTo"}
xref: GARD:1502 {source="MONDO:GARD"}
xref: icd11.foundation:780637678 {source="Orphanet:104008", source="MONDO:equivalentTo"}
xref: ICD9:579.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049416 {source="Orphanet:104008", source="Orphanet:104008/e"}
xref: MEDGEN:19966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012778 {source="Orphanet:104008", source="DOID:10605", source="MONDO:equivalentTo", source="Orphanet:104008/e"}
xref: NANDO:2100274 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200944 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99059 {source="DOID:10605", source="MONDO:equivalentTo"}
xref: NORD:1708 {source="MONDO:NORD"}
xref: Orphanet:104008 {source="MONDO:equivalentTo"}
xref: SCTID:204768009 {source="DOID:10605"}
xref: SCTID:235724004 {source="DOID:10605"}
xref: SCTID:26629001 {source="DOID:10605", source="MONDO:equivalentTo"}
xref: UMLS:C0036992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19966"}
is_a: MONDO:0005020 {source="Orphanet:104008"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome" xsd:anyURI {source="GARD:0001502"}

[Term]
id: MONDO:0015184
name: obsolete rare disease involving intestinal motility
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:104009"}
synonym: "rare genetic intestinal motility disease" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19846 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:104009 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021189

[Term]
id: MONDO:0015185
name: intestinal polyposis syndrome
def: "A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes." [NCIT:C155954]
subset: disease_grouping
subset: gard_rare {source="GARD:19847", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:104010"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19847 {source="MONDO:GARD"}
xref: MedDRA:10057018 {source="Orphanet:104010/e", source="Orphanet:104010"}
xref: MEDGEN:577190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D044483 {source="Orphanet:104010/e", source="Orphanet:104010"}
xref: NCIT:C155954 {source="MONDO:equivalentTo"}
xref: Orphanet:104010 {source="MONDO:equivalentTo"}
xref: SCTID:254589009 {source="MONDO:equivalentTo"}
xref: UMLS:C0345891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:577190"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0015186
name: obsolete rare tumor of intestine
def: "OBSOLETE. Rare intestinal neoplasm." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:104011"}
synonym: "rare intestinal neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare intestinal tumor" EXACT [Orphanet:104011]
synonym: "rare tumor of bowel" EXACT [Orphanet:104011]
xref: GARD:19848 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:104011 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021118

[Term]
id: MONDO:0015187
name: obsolete rare inflammatory bowel disease
def: "OBSOLETE. Rare inflammatory bowel disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:104012"}
synonym: "rare inflammatory bowel disease" EXACT [MONDO:patterns/rare]
xref: GARD:19849 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:104012 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005265

[Term]
id: MONDO:0015188
name: obsolete metabolic disorder with intestinal involvement
def: "OBSOLETE. A metabolic disease that involves the intestine." [MONDO:patterns/location]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:104013"}
synonym: "intestine metabolic disease" EXACT [MONDO:patterns/location]
synonym: "metabolic disease of intestine" EXACT [MONDO:design_pattern]
xref: GARD:19850 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:104013 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0015189
name: obsolete adenocarcinoma of small instestine
def: "OBSOLETE. An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." [NCIT:C7888]
is_obsolete: true
replaced_by: MONDO:0003198

[Term]
id: MONDO:0015190
name: obsolete leiomyosarcoma of small intestine
is_obsolete: true
replaced_by: MONDO:0003360

[Term]
id: MONDO:0015191
name: myopathic intestinal pseudoobstruction
subset: gard_rare {source="GARD:19853", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:104077"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:104077"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19853 {source="MONDO:GARD"}
xref: ICD10CM:K59.8 {source="Orphanet:104077/attributed", source="Orphanet:104077/ntbt", source="Orphanet:104077"}
xref: MEDGEN:1843444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:104077 {source="MONDO:equivalentTo"}
xref: UMLS:C5681739 {source="MEDGEN:1843444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017574 {source="Orphanet:104077"} ! chronic intestinal pseudoobstruction

[Term]
id: MONDO:0015192
name: obsolete unclassified intestinal pseudoobstruction
subset: ordo_etiological_subtype {source="Orphanet:104078"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:104078"}
xref: GARD:19854 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:K59.8 {source="Orphanet:104078/attributed", source="Orphanet:104078/ntbt", source="Orphanet:104078"}
xref: Orphanet:104078 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0017574

[Term]
id: MONDO:0015193
name: hydrops fetalis
def: "Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility)." [Orphanet:1041]
subset: gard_rare {source="GARD:2783", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1041"}
subset: ordo_malformation_syndrome {source="Orphanet:1041"}
subset: orphanet_rare {source="Orphanet:1041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial non-immune hydrops fetalis" RELATED [GARD:0002783]
synonym: "fetal anasarca" EXACT [Orphanet:1041]
synonym: "fetal edema" RELATED [GARD:0002301]
synonym: "fetal hydrops" EXACT [Orphanet:1041]
synonym: "foetal anasarca" EXACT OMO:0003005 []
synonym: "foetal hydrops" EXACT OMO:0003005 []
synonym: "foetal oedema" RELATED OMO:0003005 []
synonym: "generalised foetal oedema" EXACT OMO:0003005 []
synonym: "generalized fetal edema" EXACT [Orphanet:1041]
synonym: "HF" EXACT ABBREVIATION [Orphanet:1041]
synonym: "hydrops fetalis" EXACT [MONDO:ambiguous]
synonym: "hydrops fetalis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hydrops fetalis nonimmune" RELATED [GARD:0002783]
synonym: "idiopathic hydrops fetalis" RELATED [GARD:0002783]
xref: GARD:2783 {source="MONDO:GARD"}
xref: HP:0001789 {source="MONDO:otherHierarchy"}
xref: ICD10CM:P56.0 {source="Orphanet:1041/btnt", source="Orphanet:1041"}
xref: ICD10CM:P56.9 {source="Orphanet:1041/btnt", source="Orphanet:1041"}
xref: ICD10CM:P83.2 {source="Orphanet:1041/btnt", source="Orphanet:1041"}
xref: MedDRA:10020529 {source="Orphanet:1041/e", source="Orphanet:1041"}
xref: MEDGEN:6947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015160 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:1041/e", source="MONDO:equivalentTo", source="Orphanet:1041"}
xref: NCIT:C84767 {source="MONDO:equivalentTo"}
xref: Orphanet:1041 {source="MONDO:equivalentTo"}
xref: SCTID:276508000 {source="MONDO:equivalentTo"}
xref: UMLS:C0020305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6947"}
is_a: MONDO:0019755 {source="Orphanet:1041"} ! developmental defect during embryogenesis
property_value: IAO:0000589 "hydrops fetalis (disease)" xsd:string

[Term]
id: MONDO:0015194
name: sideroblastic anemia
def: "A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias." [Orphanet:1047]
subset: disease_grouping
subset: gard_rare {source="GARD:18714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1047"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaemia sideroblastic" EXACT OMO:0003005 []
synonym: "anemia sideroblastic" EXACT [DOID:8955, MTH:NOCODE]
synonym: "anemia, hypochromic with iron loading" EXACT [DOID:8955]
synonym: "sideroblastic anemia" EXACT [MONDO:0004688]
xref: DOID:8955 {source="MONDO:equivalentTo"}
xref: GARD:18714 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:1047/btnt", source="Orphanet:1047"}
xref: ICD10CM:D64.1 {source="Orphanet:1047/btnt", source="Orphanet:1047"}
xref: ICD10CM:D64.2 {source="Orphanet:1047/btnt", source="Orphanet:1047"}
xref: ICD10CM:D64.3 {source="Orphanet:1047/btnt", source="DOID:8955", source="Orphanet:1047"}
xref: ICD9:285.0 {source="DOID:8955", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10040661 {source="Orphanet:1047", source="Orphanet:1047/e"}
xref: MEDGEN:8067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000756 {source="DOID:8955", source="Orphanet:1047", source="MONDO:equivalentTo", source="Orphanet:1047/e"}
xref: NANDO:2100179 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200616 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C36078 {source="DOID:8955", source="MONDO:equivalentTo"}
xref: OMIMPS:300751 {source="MONDO:relatedTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1047 {source="MONDO:equivalentTo"}
xref: SCTID:154810008 {source="DOID:8955"}
xref: SCTID:191263002 {source="DOID:8955"}
xref: SCTID:41841004 {source="DOID:8955", source="MONDO:equivalentTo"}
xref: UMLS:C0002896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8067"}
is_a: MONDO:0002280 {source="DOID:8955/inferred", source="MESH:D000756", source="MONDO:Redundant", source="NCIT:C36078"} ! anemia
relationship: excluded_subClassOf MONDO:0012197 {source="DOID:8955", source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic aplastic anemia

[Term]
id: MONDO:0015195
name: atresia of urethra
def: "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development." [Orphanet:105]
subset: gard_rare {source="GARD:18678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:105"}
subset: ordo_morphological_anomaly {source="Orphanet:105"}
subset: orphanet_rare {source="Orphanet:105"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atresia of urethra" EXACT [MONDO:ambiguous]
synonym: "atresia of urethra (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "urethral atresia" EXACT [Orphanet:105]
xref: GARD:18678 {source="MONDO:GARD"}
xref: HP:0000068 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q64.3 {source="MONDO:relatedTo", source="Orphanet:105", source="Orphanet:105/e", source="Orphanet:105/specific"}
xref: MedDRA:10064895 {source="Orphanet:105", source="Orphanet:105/e"}
xref: MEDGEN:576882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:105 {source="MONDO:equivalentTo"}
xref: SCTID:253902002 {source="MONDO:equivalentTo"}
xref: UMLS:C0345345 {source="MEDGEN:576882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018559 {source="Orphanet:105"} ! fetal lower urinary tract obstruction
property_value: IAO:0000589 "atresia of urethra (disease)" xsd:string

[Term]
id: MONDO:0015196
name: vein of Galen aneurysm
def: "Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization." [https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm]
subset: gard_rare {source="GARD:5467", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1053"}
subset: ordo_morphological_anomaly {source="Orphanet:1053"}
subset: orphanet_rare {source="Orphanet:1053"}
subset: rare
synonym: "ectasia or varix of the vein of Galen" RELATED [GARD:0005467]
synonym: "Galen vein aneurysm" RELATED [GARD:0005467]
synonym: "Galenic arteriovenous malformation" RELATED [GARD:0005467]
synonym: "vein of Galen aneurysm malformation" RELATED [GARD:0005467]
synonym: "vein of Galen arteriovenous malformations" EXACT [Orphanet:1053]
synonym: "VGAM" RELATED ABBREVIATION [GARD:0005467]
xref: GARD:5467 {source="MONDO:GARD"}
xref: ICD10CM:Q28.2 {source="Orphanet:1053/ntbt", source="Orphanet:1053"}
xref: icd11.foundation:1884295064 {source="MONDO:equivalentTo", source="Orphanet:1053"}
xref: MEDGEN:140912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536535 {source="Orphanet:1053/e", source="MONDO:equivalentTo", source="Orphanet:1053"}
xref: Orphanet:1053 {source="MONDO:equivalentTo"}
xref: SCTID:253194008 {source="MONDO:equivalentTo"}
xref: UMLS:C0431420 {source="MEDGEN:140912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001256 {source="Orphanet:1053"} ! arteriovenous hemangioma/malformation
relationship: disease_has_location UBERON:0006666 ! great cerebral vein
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm" xsd:anyURI {source="GARD:0005467"}

[Term]
id: MONDO:0015197
name: aneurysm of sinus of Valsalva
def: "Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated." [Orphanet:1054]
subset: gard_rare {source="GARD:670", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1054"}
subset: ordo_morphological_anomaly {source="Orphanet:1054"}
subset: orphanet_rare {source="Orphanet:1054"}
subset: rare
synonym: "sinus of Valsalva aneurysm" RELATED [GARD:0000670]
synonym: "SVA" RELATED ABBREVIATION [GARD:0000670]
xref: GARD:670 {source="MONDO:GARD"}
xref: ICD10CM:Q25.4 {source="Orphanet:1054", source="Orphanet:1054/ntbt"}
xref: icd11.foundation:364348641 {source="Orphanet:1054", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:747.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:853730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200293 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:1054 {source="MONDO:equivalentTo"}
xref: SCTID:54160000 {source="MONDO:equivalentTo"}
xref: UMLS:C2239253 {source="MEDGEN:853730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005561 {source="MONDO:Redundant"} ! aortic disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_location UBERON:0003707 ! sinus of Valsalva
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva" xsd:anyURI {source="GARD:0000670"}

[Term]
id: MONDO:0015198
name: aniridia-ptosis-intellectual disability-familial obesity syndrome
def: "Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." [Orphanet:1067]
subset: gard_rare {source="GARD:689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1067"}
subset: ordo_malformation_syndrome {source="Orphanet:1067"}
subset: orphanet_rare {source="Orphanet:1067"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aniridia - ptosis - intellectual disability - familial obesity" RELATED [GARD:0000689]
xref: GARD:689 {source="MONDO:GARD"}
xref: MEDGEN:929405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1067 {source="MONDO:equivalentTo"}
xref: SCTID:720987001 {source="MONDO:equivalentTo"}
xref: UMLS:C4303736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929405"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1067", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0015199
name: aniridia - intellectual disability syndrome
def: "Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974." [Orphanet:1068]
subset: gard_rare {source="GARD:5530", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1068"}
subset: ordo_malformation_syndrome {source="Orphanet:1068"}
subset: orphanet_rare {source="Orphanet:1068"}
subset: rare
synonym: "aniridia associated with intellectual disability and other eye abnormalities" RELATED [GARD:0005530]
synonym: "aniridia associated with mental retardation and other eye abnormalities" RELATED DEPRECATED [GARD:0005530]
synonym: "Walker Dyson syndrome" RELATED [GARD:0005530]
synonym: "Walker-Dyson syndrome" EXACT [Orphanet:1068]
xref: GARD:5530 {source="MONDO:GARD"}
xref: MEDGEN:419752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536568 {source="Orphanet:1068", source="MONDO:equivalentTo", source="Orphanet:1068/e"}
xref: Orphanet:1068 {source="MONDO:equivalentTo"}
xref: UMLS:C2931243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419752"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1068", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0015200
name: anisakiasis
def: "Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum." [MESH:D017129]
subset: gard_rare {source="GARD:693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1070"}
subset: orphanet_rare {source="Orphanet:1070"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Anisakiases" RELATED [MESH:D017129]
synonym: "Anisakis infection" RELATED [GARD:0000693]
synonym: "Anisakis simplex infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "infection by Anisakis larva" EXACT [DOID:7033]
synonym: "infections, Anisakis simplex" RELATED [MONDO:patterns/infectious_disease_by_agent]
synonym: "Pseudoterranova infection" RELATED [GARD:0000693]
xref: DOID:7033 {source="MONDO:equivalentTo", source="EFO:0007146"}
xref: EFO:0007146 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:693 {source="MONDO:GARD"}
xref: ICD10CM:B81.0 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033"}
xref: icd11.foundation:2005274000 {source="MONDO:equivalentTo", source="Orphanet:1070"}
xref: ICD9:127.1 {source="DOID:7033"}
xref: MedDRA:10002533 {source="Orphanet:1070/e", source="Orphanet:1070"}
xref: MEDGEN:102418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017129 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033", source="EFO:0007146"}
xref: NCIT:C128393 {source="MONDO:equivalentTo"}
xref: Orphanet:1070 {source="MONDO:equivalentTo"}
xref: SCTID:187173002 {source="DOID:7033"}
xref: SCTID:32183007 {source="DOID:7033"}
xref: SCTID:442652006 {source="MONDO:equivalentTo"}
xref: UMLS:C0162576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102418"}
is_a: MONDO:0004664 {source="DOID:7033", source="ICD10CM:B81.0/inferred", source="MESH:D017129/inferred", source="MONDO:Redundant"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:7033/inferred", source="EFO:0007146", source="MESH:D017129/inferred", source="MONDO:Redundant", source="NCIT:C128393", source="Orphanet:1070"} ! parasitic infectious disease
is_a: MONDO:0024270 {source="MESH:D017129", source="MONDO:Redundant"} ! parasitic intestinal disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6269 ! Anisakis simplex
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/693/anisakiasis" xsd:anyURI {source="GARD:0000693"}

[Term]
id: MONDO:0015201
name: ankyloblepharon filiforme-imperforate anus syndrome
def: "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." [Orphanet:1074]
subset: gard_rare {source="GARD:697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:1074"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1074"}
subset: rare
synonym: "ankyloblepharon filiforme adnatum-imperforate anus syndrome" RELATED [Orphanet:1074]
synonym: "Aughton-Hufnagle syndrome" EXACT [Orphanet:1074]
xref: GARD:697 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1074/attributed", source="Orphanet:1074/ntbt", source="Orphanet:1074"}
xref: MEDGEN:1666000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1074 {source="MONDO:equivalentTo"}
xref: UMLS:C4751231 {source="MEDGEN:1666000", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019755 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1074", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0015202
name: obsolete babesiosis
is_obsolete: true
replaced_by: MONDO:0005661

[Term]
id: MONDO:0015203
name: coronary artery congenital malformation
subset: disease_grouping
subset: gard_rare {source="GARD:1534", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1081"}
subset: rare
xref: GARD:1534 {source="MONDO:GARD"}
xref: ICD10CM:Q24.5 {source="Orphanet:1081/e", source="Orphanet:1081"}
xref: icd11.foundation:902783759 {source="MONDO:equivalentTo", source="Orphanet:1081", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10061060 {source="Orphanet:1081/e", source="Orphanet:1081"}
xref: MEDGEN:1612789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1081 {source="MONDO:equivalentTo"}
xref: UMLS:C4531298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1612789"}
is_a: MONDO:0019512 {source="Orphanet:1081"} ! congenital heart malformation

[Term]
id: MONDO:0015204
name: microlissencephaly
def: "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years." [Orphanet:1083]
subset: gard_rare {source="GARD:16555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1083"}
subset: ordo_morphological_anomaly {source="Orphanet:1083"}
subset: orphanet_rare {source="Orphanet:1083"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0112234 {source="MONDO:equivalentTo"}
xref: GARD:16555 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:1083/inclusion", source="Orphanet:1083/ntbt", source="Orphanet:1083"}
xref: MEDGEN:365439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1083 {source="MONDO:equivalentTo"}
xref: UMLS:C1956147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:365439"}
is_a: MONDO:0018838 {source="Orphanet:1083"} ! lissencephaly spectrum disorders

[Term]
id: MONDO:0015205
name: isolated lissencephaly type 1 without known genetic defects
def: "Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures." [Orphanet:1084]
subset: gard_rare {source="GARD:18715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1084"}
subset: orphanet_rare {source="Orphanet:1084"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18715 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:1084/attributed", source="Orphanet:1084/ntbt", source="Orphanet:1084"}
xref: MEDGEN:895946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1084 {source="MONDO:equivalentTo"}
xref: SCTID:715406003 {source="MONDO:equivalentTo"}
xref: UMLS:C4275151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895946"}
is_a: MONDO:0015146 {source="Orphanet:1084"} ! classic lissencephaly

[Term]
id: MONDO:0015206
name: short stature-heart defect-craniofacial anomalies syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1088"}
subset: rare
synonym: "Rommen Mueller Sybert syndrome" RELATED [GARD:0004739]
synonym: "Rommen-Mueller-Sybert syndrome" EXACT [Orphanet:1088]
synonym: "short stature heart defect and craniofacial anomalies" RELATED [GARD:0004739]
xref: ICD10CM:Q87.1 {source="Orphanet:1088", source="Orphanet:1088/attributed", source="Orphanet:1088/ntbt"}
xref: MEDGEN:419321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535871 {source="MONDO:equivalentTo"}
xref: Orphanet:1088 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2931050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419321"}
is_a: MONDO:0015160 {source="Orphanet:1088"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:1088", source="Orphanet:1088/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0015207
name: obsolete non-syndromic esophageal malformation
def: "OBSOLETE. A esophageal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108959"}
synonym: "isolated esophageal malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic esophageal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:19855 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108959 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015208
name: obsolete syndromic esophageal malformation
def: "OBSOLETE. A esophageal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108961"}
synonym: "syndrome associated with esophageal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic esophageal malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:19856 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108961 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015209
name: obsolete non-syndromic gastroduodenal malformation
def: "OBSOLETE. A gastroduodenal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108963"}
synonym: "isolated gastroduodenal malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic gastroduodenal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:19857 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108963 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015210
name: obsolete syndromic gastroduodenal malformation
def: "OBSOLETE. A gastroduodenal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108965"}
synonym: "syndrome associated with gastroduodenal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic gastroduodenal malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:19858 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108965 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015211
name: obsolete non-syndromic intestinal malformation
def: "OBSOLETE. A intestinal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108967"}
synonym: "isolated intestinal malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic intestinal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:19859 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108967 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015212
name: obsolete syndromic intestinal malformation
def: "OBSOLETE. A intestinal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108969"}
synonym: "syndrome associated with intestinal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic intestinal malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:19860 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108969 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015213
name: obsolete non-syndromic visceral malformation
subset: ordo_group_of_disorders {source="Orphanet:108971"}
synonym: "isolated visceral malformation" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic visceral malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19861 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108971 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015214
name: obsolete syndromic visceral malformation
subset: ordo_group_of_disorders {source="Orphanet:108973"}
xref: GARD:19862 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108973 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015215
name: obsolete non-syndromic diaphragmatic or abdominal wall malformation
def: "OBSOLETE. A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108977"}
synonym: "isolated diaphragmatic or abdominal wall malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic diaphragmatic or abdominal wall malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:19863 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108977 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015216
name: obsolete syndromic diaphragmatic or abdominal wall malformation
def: "OBSOLETE. A diaphragmatic or abdominal wall malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108979"}
synonym: "syndrome associated with diaphragmatic or abdominal wall malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic diaphragmatic or abdominal wall malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:19864 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108979 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015217
name: obsolete non-syndromic developmental defect of the eye
def: "OBSOLETE. A developmental defect of the eye that is not part of a larger syndrome." [MONDO:patterns/isolated]
synonym: "isolated developmental defect of the eye" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic developmental defect of the eye" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: Orphanet:108985 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015218
name: obsolete syndromic developmental defect of the eye
def: "OBSOLETE. A developmental defect of the eye that is part of a larger syndrome." [MONDO:patterns/syndromic]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: eye disease'
synonym: "syndrome associated with developmental defect of the eye" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic developmental defect of the eye" EXACT CLINGEN_LABEL [MONDO:patterns/syndromic]
xref: Orphanet:108987 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005328

[Term]
id: MONDO:0015219
name: obsolete non-syndromic central nervous system malformation
def: "OBSOLETE. A central nervous system malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108989"}
synonym: "isolated central nervous system malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic central nervous system malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:19865 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108989 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015220
name: obsolete syndrome with a central nervous system malformation as major feature
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:108991"}
xref: GARD:19866 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108991 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0015221
name: obsolete non-syndromic respiratory or mediastinal malformation
def: "OBSOLETE. A respiratory or mediastinal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:108993"}
synonym: "isolated respiratory or mediastinal malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic respiratory or mediastinal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:19867 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108993 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015222
name: obsolete syndromic respiratory or mediastinal malformation
def: "OBSOLETE. A respiratory or mediastinal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:108995"}
synonym: "syndrome associated with respiratory or mediastinal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic respiratory or mediastinal malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:19868 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108995 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015223
name: obsolete rare anemia
def: "OBSOLETE. Rare anemia." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:108997"}
synonym: "rare anemia" EXACT []
synonym: "rare anemia (disease)" EXACT [MONDO:patterns/rare]
xref: GARD:19869 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108997 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002280

[Term]
id: MONDO:0015224
name: obsolete rare intoxication
def: "OBSOLETE. Any of the forms of poisoning that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:108999"}
synonym: "rare poisoning" EXACT [MONDO:patterns/rare]
xref: GARD:22533 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:108999 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0029000

[Term]
id: MONDO:0015225
name: arthrogryposis syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19870", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:109007"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis syndrome" EXACT CLINGEN_LABEL []
xref: GARD:19870 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:109007/attributed", source="Orphanet:109007/ntbt", source="Orphanet:109007"}
xref: icd11.foundation:1692487835 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:109007"}
xref: MESH:D001176 {source="MONDO:relatedTo", source="Orphanet:109007/e", source="Orphanet:109007"}
xref: Orphanet:109007 {source="MONDO:equivalentTo"}
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0021147 {source="Orphanet:109007", source="Orphanet:109007/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0015226
name: obsolete syndrome with limb malformations as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:109009"}
xref: GARD:19871 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.2 {source="Orphanet:109009", source="Orphanet:109009/e"}
xref: Orphanet:109009 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015227
name: obsolete non-syndromic limb malformation
subset: ordo_group_of_disorders {source="Orphanet:109011"}
synonym: "isolated limb malformation" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic limb malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19872 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:109011 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015228
name: pentasomy X
def: "Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." [Orphanet:11]
subset: gard_rare {source="GARD:5678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1565"}
subset: ordo_disorder {source="Orphanet:11"}
subset: ordo_malformation_syndrome {source="Orphanet:11"}
subset: orphanet_rare {source="Orphanet:11"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "49, XXXXX syndrome" EXACT [NCIT:C89802]
synonym: "49,XXXXX syndrome" EXACT [Orphanet:11]
synonym: "chromosome X pentasomy" RELATED [GARD:0005678]
synonym: "chromosome XXXXX syndrome" RELATED [GARD:0005678]
synonym: "Penta X Syndrome" EXACT [NORD:1565]
synonym: "penta X syndrome" EXACT [NCIT:C89802]
synonym: "penta-X" EXACT [Orphanet:11]
synonym: "penta-X syndrome" RELATED [GARD:0005678]
synonym: "Pentasomy type X" EXACT [MONDORULE:1, Orphanet:11]
synonym: "Pentasomy X syndrome" RELATED [GARD:0005678]
synonym: "poly-X" EXACT [Orphanet:11]
synonym: "XXXXX syndrome" EXACT [NCIT:C89802]
xref: GARD:5678 {source="MONDO:GARD"}
xref: ICD10CM:Q97.1 {source="Orphanet:11/attributed", source="Orphanet:11/ntbt", source="Orphanet:11"}
xref: MEDGEN:423649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535319 {source="Orphanet:11", source="MONDO:equivalentTo", source="Orphanet:11/e"}
xref: NCIT:C89802 {source="MONDO:equivalentTo"}
xref: NORD:1565 {source="MONDO:NORD"}
xref: Orphanet:11 {source="MONDO:equivalentTo"}
xref: SCTID:43248007 {source="MONDO:equivalentTo"}
xref: UMLS:C2937419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423649"}
is_a: MONDO:0002254 {source="NCIT:C89802"} ! syndromic disease
is_a: MONDO:0700085 {source="https://orcid.org/0000-0002-4142-7153"} ! pentasomy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)

[Term]
id: MONDO:0015229
name: Bardet-Biedl syndrome
def: "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems" [Orphanet:110, PMID:10874630]
subset: gard_rare {source="GARD:6866", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:838"}
subset: ordo_disorder {source="Orphanet:110"}
subset: orphanet_rare {source="Orphanet:110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bardet-Biedl syndrome" EXACT CLINGEN_LABEL []
synonym: "BBS" EXACT ABBREVIATION [Orphanet:110]
synonym: "Laurence-Moon syndrome" RELATED EXCLUDE [NCIT:C118632]
synonym: "Laurence-Moon-Bardet-Biedl syndrome" RELATED EXCLUDE [NCIT:C118632]
synonym: "Laurence-Moon-Biedl syndrome" RELATED EXCLUDE [NCIT:C118632]
xref: DOID:1935 {source="MONDO:equivalentTo"}
xref: GARD:6866 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:110/inclusion", source="Orphanet:110/ntbt", source="Orphanet:110"}
xref: ICD10CM:Q87.89 {source="DOID:1935"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056715 {source="Orphanet:110/e", source="Orphanet:110"}
xref: MEDGEN:156019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020788 {source="Orphanet:110/e", source="MONDO:equivalentTo", source="DOID:1935", source="Orphanet:110"}
xref: NANDO:2200414 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118632 {source="MONDO:equivalentTo", source="DOID:1935"}
xref: NORD:838 {source="MONDO:NORD"}
xref: OMIMPS:209900 {source="MONDO:equivalentTo", source="DOID:1935"}
xref: Orphanet:110 {source="MONDO:equivalentTo", source="DOID:1935"}
xref: SCTID:5619004 {source="MONDO:equivalentTo", source="DOID:1935"}
xref: UMLS:C0752166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:156019"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118632"} ! syndromic disease
is_a: MONDO:0005308 ! ciliopathy
is_a: MONDO:0006025 {source="DOID:1935", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:110", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0015770 {source="MONDO:0015890-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:110", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:110", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: excluded_subClassOf MONDO:0020240 {source="Orphanet:110", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic retinitis pigmentosa
relationship: excluded_subClassOf MONDO:0021124 {source="https://orcid.org/0000-0001-5208-3432"} ! female infertility
relationship: excluded_subClassOf MONDO:0021189 {source="Orphanet:110", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal motility disease
relationship: excluded_subClassOf MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:110", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:110"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:209900"} ! inherited

[Term]
id: MONDO:0015230
name: anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
def: "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992." [Orphanet:1101]
subset: gard_rare {source="GARD:717", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1101"}
subset: ordo_malformation_syndrome {source="Orphanet:1101"}
subset: orphanet_rare {source="Orphanet:1101"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anophthalmia megalocornea cardiopathy skeletal anomalies" EXACT [MONDO:0022463]
synonym: "Cassia Stocco dos Santos syndrome" EXACT [Orphanet:1101]
xref: GARD:717 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1101", source="Orphanet:1101/attributed", source="Orphanet:1101/ntbt"}
xref: MEDGEN:929704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1101 {source="MONDO:equivalentTo"}
xref: SCTID:720495005 {source="MONDO:equivalentTo"}
xref: UMLS:C4304035 {source="MEDGEN:929704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1101"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1101", source="Orphanet:1101/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies" xsd:anyURI {source="GARD:0000717"}

[Term]
id: MONDO:0015231
name: Bartter syndrome
def: "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." [Orphanet:112]
subset: gard_rare {source="GARD:5893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:842"}
subset: ordo_disorder {source="Orphanet:112"}
subset: orphanet_rare {source="Orphanet:112"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aldosteronism with hyperplasia of the adrenal cortex" EXACT [DOID:445]
synonym: "Bartter disease" EXACT [MONDO:0003006]
synonym: "Bartter's syndrome" EXACT [DOID:445, GARD:0005893, ICD9CM:255.13]
synonym: "hypokalemic alkalosis" EXACT [NCIT:C34412]
synonym: "hypokalemic alkalosis with hypercalciuria" RELATED [GARD:0005893]
synonym: "Potassium wasting" RELATED [GARD:0005893]
synonym: "renal tubular normotensive hypokalemic alkalosis with hypercalciuria" EXACT [Orphanet:112]
synonym: "salt-losing tubular disorder, Henle's loop type" EXACT [Orphanet:112]
synonym: "salt-wasting tubulopathy, Henle's loop type" EXACT [Orphanet:112]
xref: DOID:445 {source="MONDO:equivalentTo"}
xref: GARD:5893 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="Orphanet:112/ntbt", source="Orphanet:112/inclusion", source="Orphanet:112"}
xref: ICD10CM:E26.81 {source="DOID:445"}
xref: icd11.foundation:777233947 {source="MONDO:equivalentTo", source="Orphanet:112"}
xref: ICD9:255.13 {source="DOID:445", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10050839 {source="Orphanet:112/e", source="Orphanet:112"}
xref: MEDGEN:2172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001477 {source="DOID:445", source="Orphanet:112/e", source="MONDO:equivalentTo", source="Orphanet:112"}
xref: NANDO:2100021 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200146 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34412 {source="DOID:445", source="MONDO:equivalentTo"}
xref: NORD:842 {source="MONDO:NORD"}
xref: OMIMPS:601678 {source="DOID:445", source="MONDO:equivalentTo"}
xref: Orphanet:112 {source="MONDO:equivalentTo", source="GARD:0005893"}
xref: SCTID:190506003 {source="DOID:445"}
xref: SCTID:707742001 {source="DOID:445", source="MONDO:equivalentTo"}
xref: SCTID:71275003 {source="DOID:445"}
xref: UMLS:C0004775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2172"}
is_a: MONDO:0002254 {source="NCIT:C34412"} ! syndromic disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0006510 {source="DOID:445", source="MESH:D001477"} ! renal tubular transport disease
is_a: MONDO:0015962 {source="Orphanet:112"} ! inherited renal tubular disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601678"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome" xsd:anyURI {source="GARD:0005893"}

[Term]
id: MONDO:0015232
name: radial deficiency-tibial hypoplasia syndrome
subset: gard_rare {source="GARD:18716", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1121"}
subset: ordo_malformation_syndrome {source="Orphanet:1121"}
subset: orphanet_rare {source="Orphanet:1121"}
subset: rare
xref: GARD:18716 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:1121", source="Orphanet:1121/attributed", source="Orphanet:1121/ntbt"}
xref: MEDGEN:1682367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1121 {source="MONDO:equivalentTo"}
xref: UMLS:C5190823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682367"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:8723109", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015233
name: caudal appendage-deafness syndrome
def: "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." [Orphanet:1123]
subset: gard_rare {source="GARD:1163", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1123"}
subset: ordo_malformation_syndrome {source="Orphanet:1123"}
subset: orphanet_rare {source="Orphanet:1123"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "caudal appendage deafness" RELATED [GARD:0001163]
synonym: "caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability" RELATED [GARD:0001163]
synonym: "caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation" RELATED DEPRECATED [GARD:0001163]
synonym: "Lynch Lee Murday syndrome" RELATED [GARD:0001163]
synonym: "Lynch-Lee-Murday syndrome" EXACT [Orphanet:1123]
xref: GARD:1163 {source="MONDO:GARD"}
xref: MEDGEN:419843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537713 {source="MONDO:equivalentTo"}
xref: Orphanet:1123 {source="MONDO:equivalentTo", source="GARD:0001163"}
xref: SCTID:726621009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931593 {source="MEDGEN:419843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1123"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1123", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness" xsd:anyURI {source="GARD:0001163"}

[Term]
id: MONDO:0015234
name: arachnodactyly-abnormal ossification-intellectual disability syndrome
def: "Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability." [Orphanet:1129]
subset: gard_rare {source="GARD:381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1129"}
subset: ordo_malformation_syndrome {source="Orphanet:1129"}
subset: orphanet_rare {source="Orphanet:1129"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arachnodactyly, abnormal ossification and intellectual disability" RELATED [GARD:0000381]
synonym: "arachnodactyly, abnormal ossification and mental retardation" RELATED DEPRECATED [GARD:0000381]
synonym: "Kosztolanyi syndrome" EXACT [Orphanet:1129]
xref: GARD:381 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1129", source="Orphanet:1129/attributed", source="Orphanet:1129/ntbt"}
xref: MEDGEN:419792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537024 {source="MONDO:equivalentTo"}
xref: Orphanet:1129 {source="MONDO:equivalentTo"}
xref: SCTID:720501007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419792"}
is_a: MONDO:0015159 {source="Orphanet:1129"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1129", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015235
name: arachnodactyly-intellectual disability-dysmorphism syndrome
def: "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients." [Orphanet:1130]
subset: gard_rare {source="GARD:764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1130"}
subset: ordo_malformation_syndrome {source="Orphanet:1130"}
subset: orphanet_rare {source="Orphanet:1130"}
subset: rare
synonym: "arachnodactyly - intellectual disability - dysmorphism" RELATED [GARD:0000764]
synonym: "De Die-Smulders-Vles-Fryns syndrome" EXACT [Orphanet:1130]
xref: GARD:764 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1130/attributed", source="Orphanet:1130/ntbt", source="Orphanet:1130"}
xref: MEDGEN:929699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1130 {source="MONDO:equivalentTo"}
xref: SCTID:720502000 {source="MONDO:equivalentTo"}
xref: UMLS:C4304030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929699"}
is_a: MONDO:0015160 {source="Orphanet:1130"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:1130", source="Orphanet:1130/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0015236
name: aortic arch defects
def: "Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren." [https://www.orpha.net/data/patho/GB/uk-aortic-arch.pdf]
subset: disease_grouping
subset: gard_rare {source="GARD:741", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:1132"}
subset: rare
xref: GARD:741 {source="MONDO:GARD"}
xref: ICD10CM:Q25.4 {source="Orphanet:1132", source="Orphanet:1132/ntbt"}
xref: MEDGEN:1842770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1132 {source="MONDO:equivalentTo"}
xref: UMLS:C5680872 {source="MEDGEN:1842770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020292 {source="Orphanet:1132"} ! congenital anomaly of the great arteries
relationship: disease_has_basis_in_disruption_of GO:0061626 {source="GARD:0000741", source="https://orcid.org/0000-0002-6601-2165"} ! pharyngeal arch artery morphogenesis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/741/aortic-arches-defect" xsd:anyURI {source="GARD:0000741"}

[Term]
id: MONDO:0015237
name: arrhinia
def: "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia." [Orphanet:1134]
subset: gard_rare {source="GARD:364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1134"}
subset: ordo_malformation_syndrome {source="Orphanet:1134"}
subset: orphanet_rare {source="Orphanet:1134"}
subset: rare
synonym: "congenital absence of the nose" RELATED [GARD:0000364]
synonym: "isolated arrhinia" RELATED [Orphanet:1134]
synonym: "isolated nose agenesis" EXACT [Orphanet:1134]
synonym: "Nose agenesia" RELATED [GARD:0000364]
synonym: "Nose agenesis" EXACT [Orphanet:1134]
xref: GARD:364 {source="MONDO:GARD"}
xref: ICD10CM:Q30.1 {source="Orphanet:1134", source="Orphanet:1134/ntbt"}
xref: icd11.foundation:409489963 {source="Orphanet:1134", source="MONDO:equivalentTo"}
xref: ICD9:748.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537438 {source="Orphanet:1134", source="MONDO:equivalentTo", source="Orphanet:1134/e"}
xref: Orphanet:1134 {source="MONDO:equivalentTo"}
xref: SCTID:111317000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120555"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/364/arrhinia" xsd:anyURI {source="GARD:0000364"}

[Term]
id: MONDO:0015238
name: arrhinia-choanal atresia-microphthalmia syndrome
def: "Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate." [Orphanet:1135]
subset: gard_rare {source="GARD:8755", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1909"}
subset: ordo_disorder {source="Orphanet:1135"}
subset: ordo_malformation_syndrome {source="Orphanet:1135"}
subset: orphanet_rare {source="Orphanet:1135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arhinia choanal atresia microphthalmia" RELATED [GARD:0008755]
synonym: "Bosma Arhinia Microphthalmia Syndrome" EXACT [NORD:1909]
synonym: "Bosma arhinia microphthalmia syndrome" RELATED [GARD:0008755]
synonym: "Bosma Henkin Christiansen syndrome" RELATED [GARD:0008755]
synonym: "congenital absence of nose and anterior nasopharynx" RELATED [GARD:0008755]
xref: GARD:8755 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1135/attributed", source="Orphanet:1135/ntbt", source="Orphanet:1135"}
xref: NORD:1909 {source="MONDO:NORD"}
xref: Orphanet:1135 {source="GARD:0008755", source="MONDO:equivalentTo"}
is_a: MONDO:0015161 {source="Orphanet:1135"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8755/arhinia-choanal-atresia-microphthalmia" xsd:anyURI {source="GARD:0008755"}

[Term]
id: MONDO:0015239
name: abnormal origin of the pulmonary artery
subset: disease_grouping
subset: gard_rare {source="GARD:18717", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:1138"}
subset: rare
xref: GARD:18717 {source="MONDO:GARD"}
xref: ICD10CM:Q25.7 {source="Orphanet:1138", source="Orphanet:1138/ntbt"}
xref: icd11.foundation:953235173 {source="MONDO:equivalentTo", source="Orphanet:1138", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:539573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1138 {source="MONDO:equivalentTo"}
xref: SCTID:68092007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539573"}
is_a: MONDO:0016581 {source="Orphanet:1138"} ! conotruncal heart malformations

[Term]
id: MONDO:0015240
name: digitotalar dysmorphism
def: "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis." [Orphanet:1146]
subset: gard_rare {source="GARD:787", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1146"}
subset: ordo_malformation_syndrome {source="Orphanet:1146"}
subset: orphanet_rare {source="Orphanet:1146"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMCD1" RELATED ABBREVIATION [GARD:0000787]
synonym: "arthrogryposis multiplex congenita distal type 1" EXACT [GARD:0000787]
synonym: "DA1" EXACT ABBREVIATION [Orphanet:1146]
synonym: "digitotalar dysmorphism" EXACT [GARD:0000787]
synonym: "distal arthrogryposis type 1" EXACT [Orphanet:1146]
synonym: "distal arthrogryposis type 1A (sub-type)" NARROW [GARD:0000787]
synonym: "distal arthrogryposis type 1B (sub-type)" NARROW [GARD:0000787]
xref: DOID:0111596 {source="MONDO:equivalentTo"}
xref: GARD:787 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:1146/attributed", source="Orphanet:1146/ntbt", source="Orphanet:1146"}
xref: MESH:C565097 {source="MONDO:equivalentTo"}
xref: Orphanet:1146 {source="GARD:0000787", source="MONDO:equivalentTo"}
is_a: MONDO:0015161 {source="Orphanet:1146"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019942 {source="Orphanet:1146"} ! distal arthrogryposis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1" xsd:anyURI {source="GARD:0000787"}

[Term]
id: MONDO:0015241
name: arthrogryposis-like syndrome
def: "Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested." [Orphanet:1149]
subset: gard_rare {source="GARD:3150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1149"}
subset: ordo_malformation_syndrome {source="Orphanet:1149"}
subset: orphanet_rare {source="Orphanet:1149"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis like disorder" RELATED [GARD:0000783]
synonym: "Kuskokwim disease" EXACT [Orphanet:1149]
synonym: "Kuskokwim syndrome" RELATED [GARD:0003150]
xref: GARD:3150 {source="MONDO:GARD"}
xref: ICD9:719.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:349229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:208200 {source="GARD:0000783", source="MONDO:equivalentObsolete", source="Orphanet:1149", source="Orphanet:1149/e"}
xref: Orphanet:1149 {source="MONDO:equivalentTo"}
xref: SCTID:702447002 {source="MONDO:equivalentTo"}
xref: UMLS:C1859709 {source="MONDO:equivalentTo", source="MEDGEN:349229", source="MONDO:MEDGEN"}
is_a: MONDO:0015168 {source="Orphanet:1149"} ! arthrogryposis multiplex congenita
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/783/arthrogryposis-like-disorder" xsd:anyURI {source="GARD:0000783"}

[Term]
id: MONDO:0015242
name: obsolete aspergillosis
is_obsolete: true
replaced_by: MONDO:0005657

[Term]
id: MONDO:0015243
name: allergic bronchopulmonary aspergillosis
def: "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." [Orphanet:1164]
subset: gard_rare {source="GARD:602", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1164"}
subset: orphanet_rare {source="Orphanet:1164"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABPA" EXACT ABBREVIATION [Orphanet:1164]
synonym: "allergic aspergillosis" EXACT [Orphanet:1164]
synonym: "allergic bronchopulmonary aspergillosis, familial" RELATED [OMIM:103920]
synonym: "allergic bronchopulmonary mycosis" RELATED [GARD:0000602]
synonym: "aspergillosis, allergic bronchopulmonary" RELATED [GARD:0000602]
synonym: "Hinson-Pepys disease" EXACT [Orphanet:1164]
synonym: "pulmonary aspergillus disease" EXACT [DOID:13166]
xref: DOID:13166 {source="MONDO:equivalentTo", source="EFO:0007140"}
xref: EFO:0007140 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:602 {source="MONDO:GARD"}
xref: ICD10CM:B44.81 {source="MONDO:equivalentTo", source="DOID:13166"}
xref: ICD10EXP:B44.1+ {source="Orphanet:1164", source="Orphanet:1164/ntbt"}
xref: ICD10EXP:J99.8* {source="Orphanet:1164", source="Orphanet:1164/ntbt"}
xref: ICD9:518.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13166"}
xref: MedDRA:10006474 {source="Orphanet:1164", source="Orphanet:1164/e"}
xref: MEDGEN:479932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001229 {source="Orphanet:1164", source="MONDO:equivalentTo", source="Orphanet:1164/e", source="EFO:0007140", source="DOID:13166"}
xref: NCIT:C84547 {source="MONDO:equivalentTo", source="DOID:13166"}
xref: OMIM:103920 {source="Orphanet:1164", source="Orphanet:1164/btnt", source="MONDO:equivalentTo", source="DOID:13166"}
xref: Orphanet:1164 {source="MONDO:equivalentTo", source="OMIM:103920"}
xref: SCTID:37981002 {source="MONDO:equivalentTo", source="DOID:13166"}
xref: UMLS:C3278302 {source="MEDGEN:479932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000771 {source="MONDO:Redundant", source="Orphanet:1164"} ! allergic respiratory disease
is_a: MONDO:0005087 {source="Orphanet:1164"} ! respiratory system disorder
is_a: MONDO:0005657 {source="DOID:13166", source="EFO:0007140", source="ICD10CM:B44.81", source="ICD10CM:B44.81/inferred", source="MESH:D001229", source="MONDO:Redundant", source="NCIT:C84547"} ! aspergillosis
intersection_of: MONDO:0005657 ! aspergillosis
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity
intersection_of: disease_has_location UBERON:0001004 ! respiratory system
relationship: disease_has_feature HP:0002099 ! Asthma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020028"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis" xsd:anyURI {source="GARD:0000602"}

[Term]
id: MONDO:0015244
name: autosomal recessive cerebellar ataxia
def: "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years." [Orphanet:1172]
subset: disease_grouping
subset: gard_rare {source="GARD:18718", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1172"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arca" EXACT [Orphanet:1172]
synonym: "cerebellar ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:0050950 {source="MONDO:equivalentTo"}
xref: GARD:18718 {source="MONDO:GARD"}
xref: MEDGEN:1843058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:213200 {source="MONDO:equivalentTo"}
xref: Orphanet:1172 {source="MONDO:equivalentTo"}
xref: UMLS:C5575375 {source="MONDO:equivalentTo", source="MEDGEN:1843058", source="MONDO:MEDGEN"}
is_a: MONDO:0100310 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary cerebellar ataxia
intersection_of: MONDO:0100310 ! hereditary cerebellar ataxia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020263-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0020138 {source="MONDO:0020139-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ataxia with dementia
relationship: excluded_subClassOf MONDO:0100309 {source="DOID:0050950", source="Orphanet:1172", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:213200"} ! inherited

[Term]
id: MONDO:0015245
name: obsolete rare intestinal disease
def: "OBSOLETE. Rare intestinal disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:117569"}
synonym: "rare intestinal disease" EXACT [MONDO:patterns/rare]
xref: GARD:19873 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:117569 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005020

[Term]
id: MONDO:0015246
name: obsolete syndromic anorectal malformation
def: "OBSOLETE. A anorectal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:117573"}
subset: otar {source="MONDO:OTAR"}
synonym: "syndrome associated with anorectal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic anorectal malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:19874 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:117573 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015247
name: opsoclonus-myoclonus syndrome
def: "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." [Orphanet:1183]
subset: gard_rare {source="GARD:10009", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1527"}
subset: ordo_disorder {source="Orphanet:1183"}
subset: orphanet_rare {source="Orphanet:1183"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ataxo-opso-myoclonus syndrome" EXACT [Orphanet:1183]
synonym: "dancing eye syndrome" EXACT [Orphanet:1183]
synonym: "dancing eye-dancing feet syndrome" EXACT [Orphanet:1183]
synonym: "Kinsbourne syndrome" EXACT [Orphanet:1183]
synonym: "oma syndrome" EXACT [Orphanet:1183]
synonym: "OMS" EXACT ABBREVIATION [Orphanet:1183]
synonym: "opsoclonus myoclonus syndrome" EXACT [NCIT:C4686]
synonym: "Opsoclonus-Myoclonus-Ataxia Syndrome" EXACT [NORD:1527]
synonym: "opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1183]
synonym: "paraneoplastic opsoclonus-myoclonus" EXACT [Orphanet:1183]
synonym: "paraneoplastic opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1183]
synonym: "POMA syndrome" EXACT [Orphanet:1183]
xref: EFO:1001383 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10009 {source="MONDO:GARD"}
xref: ICD10CM:G25.3 {source="Orphanet:1183/ntbt", source="Orphanet:1183"}
xref: ICD9:379.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10053854 {source="Orphanet:1183/e", source="Orphanet:1183"}
xref: MEDGEN:97955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053578 {source="Orphanet:1183/e", source="MONDO:equivalentTo", source="Orphanet:1183"}
xref: NCIT:C4686 {source="MONDO:equivalentTo"}
xref: NORD:1527 {source="MONDO:NORD"}
xref: Orphanet:1183 {source="MONDO:equivalentTo"}
xref: SCTID:230350000 {source="MONDO:equivalentTo"}
xref: UMLS:C0393626 {source="MEDGEN:97955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder
is_a: MONDO:0018215 {source="MONDO:Redundant", source="Orphanet:1183", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic neurologic syndrome
is_a: MONDO:0021073 {source="MESH:D053578/inferred", source="MONDO:Redundant", source="NCIT:C4686"} ! paraneoplastic syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0015248
name: ataxia-photosensitivity-short stature syndrome
def: "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983." [Orphanet:1184]
subset: gard_rare {source="GARD:2287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1184"}
subset: ordo_malformation_syndrome {source="Orphanet:1184"}
subset: orphanet_rare {source="Orphanet:1184"}
subset: rare
synonym: "Fenton Wilkinson Toselano syndrome" EXACT [MONDO:0023140]
synonym: "Fenton-Wilkinson-Toselano syndrome" EXACT [Orphanet:1184]
xref: GARD:2287 {source="MONDO:GARD"}
xref: MEDGEN:1655873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1184 {source="MONDO:equivalentTo"}
xref: UMLS:C4751230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1655873"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1184"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0100309 {source="Orphanet:1184", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7181" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2287/fenton-wilkinson-toselano-syndrome" xsd:anyURI {source="GARD:0002287"}

[Term]
id: MONDO:0015249
name: mitral atresia disorder
def: "A congenital heart defect characterized by the complete atresia of the mitral valve." [NCIT:C98992]
subset: gard_rare {source="GARD:3685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1205"}
subset: ordo_morphological_anomaly {source="Orphanet:1205"}
subset: orphanet_rare {source="Orphanet:1205"}
subset: rare
synonym: "congenital atresia of mitral valve" EXACT [NCIT:C98992]
synonym: "congenital mitral valve atresia" EXACT [NCIT:C98992]
synonym: "mitral atresia" EXACT [MONDO:ambiguous]
synonym: "mitral valve atresia" EXACT [NCIT:C98992]
xref: GARD:3685 {source="MONDO:GARD"}
xref: HP:0011560 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q23.2 {source="Orphanet:1205", source="Orphanet:1205/ntbt", source="MONDO:directSiblingOf"}
xref: icd11.foundation:6462604 {source="MONDO:equivalentTo", source="Orphanet:1205", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:91035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98992 {source="MONDO:equivalentTo"}
xref: Orphanet:1205 {source="MONDO:equivalentTo"}
xref: SCTID:23063005 {source="MONDO:equivalentTo"}
xref: UMLS:C0344760 {source="MEDGEN:91035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003767 {source="NCIT:C98992"} ! mitral valve disorder
is_a: MONDO:0005453 {source="NCIT:C98992"} ! congenital heart disease
is_a: MONDO:0019817 {source="Orphanet:1205"} ! congenital mitral valve insufficiency and/or stenosis

[Term]
id: MONDO:0015250
name: spinal atrophy-ophthalmoplegia-pyramidal syndrome
def: "Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994." [Orphanet:1217]
subset: gard_rare {source="GARD:4942", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1217"}
subset: orphanet_rare {source="Orphanet:1217"}
subset: rare
synonym: "Hamano Tsukamoto syndrome" RELATED [GARD:0004942]
synonym: "Hamano-Tsukamoto syndrome" EXACT [Orphanet:1217]
synonym: "infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms" RELATED [GARD:0004942]
synonym: "spinal atrophy ophthalmoplegia pyramidal syndrome" RELATED [GARD:0004942]
xref: GARD:4942 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:1217", source="Orphanet:1217/attributed", source="Orphanet:1217/ntbt"}
xref: MEDGEN:419294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535625 {source="MONDO:equivalentTo"}
xref: Orphanet:1217 {source="MONDO:equivalentTo"}
xref: UMLS:C2930956 {source="MONDO:equivalentTo", source="MEDGEN:419294", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0016113 {source="https://orcid.org/0000-0002-4142-7153"} ! bulbospinal muscular atrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome" xsd:anyURI {source="GARD:0004942"}

[Term]
id: MONDO:0015251
name: obsolete balantidiasis
is_obsolete: true
replaced_by: MONDO:0005662

[Term]
id: MONDO:0015252
name: severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
subset: gard_rare {source="GARD:3482", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1236"}
subset: ordo_malformation_syndrome {source="Orphanet:1236"}
subset: orphanet_rare {source="Orphanet:1236"}
subset: rare
synonym: "BD syndrome" RELATED [GARD:0003482]
synonym: "intellectual disability - athetosis - microphthalmia" RELATED [GARD:0003482]
synonym: "intellectual disability-athetosis-microphthalmia syndrome" RELATED [GARD:0003482]
synonym: "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" EXACT [GARD:0003482]
xref: GARD:3482 {source="MONDO:GARD"}
xref: MEDGEN:1682668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1236 {source="MONDO:equivalentTo", source="GARD:0003482"}
xref: UMLS:C5190778 {source="MEDGEN:1682668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1236"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100309 {source="Orphanet:1236"} ! hereditary ataxia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3482/intellectual-disability---athetosis---microphthalmia" xsd:anyURI {source="GARD:0003482"}

[Term]
id: MONDO:0015253
name: Diamond-Blackfan anemia
def: "A congenital aregenerative and often macrocytic anemia with erythroblastopenia." [Orphanet:124]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6274", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:773"}
subset: ordo_disorder {source="Orphanet:124"}
subset: orphanet_rare {source="Orphanet:124"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aase syndrome" EXACT [Orphanet:124]
synonym: "Aase-Smith II syndrome" EXACT [Orphanet:124]
synonym: "anaemia congenital erythroid hypoplastic" RELATED OMO:0003005 []
synonym: "anaemia Diamond Blackfan type" RELATED OMO:0003005 []
synonym: "anemia congenital erythroid hypoplastic" RELATED [GARD:0006274]
synonym: "anemia Diamond Blackfan type" RELATED [GARD:0006274]
synonym: "aregenerative anaemia chronic congenital" RELATED OMO:0003005 []
synonym: "aregenerative anemia chronic congenital" RELATED [GARD:0006274]
synonym: "BDS" RELATED ABBREVIATION [GARD:0006274]
synonym: "Blackfan - Diamond syndrome" EXACT [DOID:1339]
synonym: "Blackfan Diamond syndrome" RELATED [GARD:0006274]
synonym: "Blackfan-Diamond anaemia" EXACT OMO:0003005 []
synonym: "Blackfan-Diamond anemia" EXACT [NCIT:C61236]
synonym: "chronic constitutional pure red cell anaemia" EXACT OMO:0003005 []
synonym: "chronic constitutional pure red cell anemia" EXACT [DOID:1339]
synonym: "congenital hypoplastic anaemia" EXACT OMO:0003005 []
synonym: "congenital hypoplastic anemia" EXACT [NCIT:C61236]
synonym: "congenital hypoplastic anemia, Blackfan-Diamond type" EXACT [Orphanet:124]
synonym: "congenital PRCA" EXACT [Orphanet:124]
synonym: "congenital pure red cell aplasia" EXACT [Orphanet:124]
synonym: "DBA" EXACT ABBREVIATION []
synonym: "Diamond Blackfan Anemia" EXACT [NORD:773]
synonym: "Diamond-Blackfan anemia" EXACT CLINGEN_LABEL []
synonym: "erythrogenesis imperfecta" EXACT [NCIT:C61236]
synonym: "inherited erythroblastopenia" EXACT [NCIT:C61236]
synonym: "Red cell aplasia, pure hereditary" RELATED [GARD:0006274]
xref: DOID:1339 {source="MONDO:equivalentTo"}
xref: GARD:6274 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:124/ntbt", source="Orphanet:124/inclusion", source="Orphanet:124"}
xref: ICD10CM:D61.01 {source="DOID:1339"}
xref: MedDRA:10062989 {source="Orphanet:124/e", source="Orphanet:124"}
xref: MEDGEN:266045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D029503 {source="Orphanet:124/e", source="MONDO:equivalentTo", source="DOID:1339", source="Orphanet:124"}
xref: NANDO:1200890 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200614 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61236 {source="MONDO:equivalentTo", source="DOID:1339"}
xref: NORD:773 {source="MONDO:NORD"}
xref: OMIMPS:105650 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:124 {source="MONDO:equivalentTo", source="DOID:1339"}
xref: SCTID:188588001 {source="DOID:1339"}
xref: SCTID:191235004 {source="DOID:1339"}
xref: SCTID:191239005 {source="DOID:1339"}
xref: SCTID:234371002 {source="DOID:1339"}
xref: SCTID:88854002 {source="MONDO:equivalentTo", source="DOID:1339"}
xref: UMLS:C1260899 {source="MEDGEN:266045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001705 {source="MESH:D029503", source="NCIT:C61236"} ! pure red-cell aplasia
is_a: MONDO:0001713 {source="DOID:1339", source="MESH:D029503", source="Orphanet:124"} ! inherited aplastic anemia
relationship: excluded_subClassOf MONDO:0015335 {source="Orphanet:124", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Mendelian syndromes with cleft lip/palate
relationship: excluded_subClassOf MONDO:0015945 {source="Orphanet:124", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete polymalformative genetic syndrome with increased risk of developing cancer
relationship: excluded_subClassOf MONDO:0019236 {source="Orphanet:124", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of purine metabolism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105650"} ! inherited

[Term]
id: MONDO:0015254
name: schistosomiasis
def: "An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic." [Orphanet:1247]
subset: gard_rare {source="GARD:9687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1247"}
subset: orphanet_rare {source="Orphanet:1247"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bilharzia" EXACT [NCIT:C35000]
synonym: "bilharziasis" EXACT [Orphanet:1247]
synonym: "schistosomiasis" EXACT [NCIT:C35000]
synonym: "snail fever" EXACT [NCIT:C35000]
xref: DOID:1395 {source="MONDO:equivalentTo"}
xref: EFO:1001475 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9687 {source="MONDO:GARD"}
xref: ICD10CM:B65.0 {source="Orphanet:1247", source="Orphanet:1247/btnt"}
xref: ICD10CM:B65.1 {source="Orphanet:1247", source="Orphanet:1247/btnt"}
xref: ICD10CM:B65.2 {source="Orphanet:1247", source="Orphanet:1247/btnt"}
xref: ICD10CM:B65.3 {source="Orphanet:1247", source="Orphanet:1247/btnt"}
xref: ICD10CM:B65.8 {source="Orphanet:1247", source="Orphanet:1247/btnt"}
xref: ICD10CM:B65.9 {source="Orphanet:1247", source="Orphanet:1247/btnt"}
xref: ICD9:120.8 {source="DOID:1395", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:120.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10039603 {source="Orphanet:1247", source="Orphanet:1247/e"}
xref: MEDGEN:48573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012552 {source="MONDO:equivalentTo", source="Orphanet:1247", source="Orphanet:1247/e"}
xref: NCIT:C35000 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:1247 {source="MONDO:equivalentTo"}
xref: SCTID:10087007 {source="MONDO:equivalentTo"}
xref: SCTID:187116001 {source="DOID:1395"}
xref: SCTID:187121003 {source="DOID:1395"}
xref: UMLS:C0036323 {source="MONDO:equivalentTo", source="MEDGEN:48573", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:1395", source="MESH:D012552/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:1395/inferred", source="EFO:1001475", source="MESH:D012552/inferred", source="MONDO:Redundant", source="NCIT:C35000", source="Orphanet:1247"} ! parasitic infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature HP:0000790 ! Hematuria
relationship: disease_has_infectious_agent NCBITaxon:6181 {source="MONDO:Wikidata"} ! Schistosoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0015255
name: obsolete blepharophimosis-radioulnar synostosis syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1256"}
synonym: "blepharophimosis radioulnar synostosis" RELATED [GARD:0003057]
synonym: "Jorgenson Lenz syndrome" RELATED [GARD:0003057]
synonym: "Jorgenson-Lenz syndrome" EXACT [Orphanet:1256]
synonym: "mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis" RELATED [GARD:0003057]
synonym: "ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism" RELATED [GARD:0003057]
xref: ICD10CM:Q87.2 {source="Orphanet:1256/attributed", source="Orphanet:1256/ntbt", source="Orphanet:1256"}
xref: MESH:C536292 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:1256 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6757" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015256
name: blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:1258"}
synonym: "Rodini-Richieri Costa syndrome" EXACT [Orphanet:1258]
xref: Orphanet:1258 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0021147 {source="Orphanet:1258", source="Orphanet:1258/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0015257
name: sino-auricular heart block
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:I45.5 {source="Orphanet:1260/ntbt", source="Orphanet:1260/inclusion", source="Orphanet:1260"}
xref: Orphanet:1260 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0015258
name: obsolete botulism
is_obsolete: true
replaced_by: MONDO:0005498

[Term]
id: MONDO:0015259
name: brachydactyly-mesomelia-intellectual disability-heart defects syndrome
def: "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse)." [Orphanet:1277]
subset: gard_rare {source="GARD:5036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1277"}
subset: ordo_malformation_syndrome {source="Orphanet:1277"}
subset: orphanet_rare {source="Orphanet:1277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face" RELATED [GARD:0005036]
synonym: "brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face" RELATED DEPRECATED [GARD:0005036]
synonym: "Stratton-Garcia-Young syndrome" EXACT [Orphanet:1277]
xref: GARD:5036 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1277", source="Orphanet:1277/attributed", source="Orphanet:1277/ntbt"}
xref: MEDGEN:1645467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1277 {source="MONDO:equivalentTo"}
xref: UMLS:C4707567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645467"}
is_a: MONDO:0015159 {source="Orphanet:1277"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1277", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome" xsd:anyURI {source="GARD:0005036"}

[Term]
id: MONDO:0015260
name: diphyllobothriasis
def: "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells)." [Orphanet:128]
subset: gard_rare {source="GARD:942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:128"}
subset: orphanet_rare {source="Orphanet:128"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bothriocephalosis" EXACT [Orphanet:128]
synonym: "Diphyllobothrium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Diphyllobothrium disease or disorder" EXACT []
synonym: "Diphyllobothrium infection" EXACT [DOID:10075]
synonym: "Diphyllobothrium infectious disease" EXACT []
synonym: "fish tapeworm" EXACT [DOID:10075]
xref: DOID:10075 {source="EFO:0007238", source="MONDO:equivalentTo"}
xref: EFO:0007238 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:942 {source="MONDO:GARD"}
xref: ICD10CM:B70.0 {source="Orphanet:128", source="MONDO:equivalentTo", source="Orphanet:128/e", source="DOID:10075"}
xref: icd11.foundation:1679215344 {source="Orphanet:128", source="MONDO:equivalentTo"}
xref: ICD9:123.4 {source="DOID:10075"}
xref: MedDRA:10013029 {source="Orphanet:128", source="Orphanet:128/e"}
xref: MEDGEN:3858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004169 {source="EFO:0007238", source="MONDO:equivalentTo", source="DOID:10075"}
xref: NCIT:C128391 {source="MONDO:equivalentTo"}
xref: Orphanet:128 {source="MONDO:equivalentTo"}
xref: SCTID:187151009 {source="MONDO:equivalentTo", source="DOID:10075"}
xref: SCTID:359799003 {source="DOID:10075"}
xref: SCTID:49047003 {source="DOID:10075"}
xref: UMLS:C0012561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3858"}
is_a: MONDO:0004664 {source="DOID:10075", source="ICD10CM:B70.0/inferred", source="MESH:D004169/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:10075/inferred", source="EFO:0007238", source="MESH:D004169/inferred", source="MONDO:Redundant", source="NCIT:C128391", source="Orphanet:128"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:28844 ! Diphyllobothrium
relationship: disease_has_infectious_agent NCBITaxon:28844 {source="MONDO:Wikidata"} ! Diphyllobothrium
relationship: disease_has_infectious_agent NCBITaxon:28845 {source="MONDO:Wikidata"} ! Dibothriocephalus dendriticus
relationship: disease_has_infectious_agent NCBITaxon:372083 {source="MONDO:Wikidata"} ! Diphyllobothrium cordatum
relationship: disease_has_infectious_agent NCBITaxon:60516 {source="MONDO:Wikidata"} ! Dibothriocephalus latus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0015261
name: pseudopelade of Brocq
def: "Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation." [Orphanet:129]
subset: gard_rare {source="GARD:4536", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:129"}
subset: orphanet_rare {source="Orphanet:129"}
subset: rare
synonym: "Brocq pseudopelade" RELATED [GARD:0004536]
synonym: "pseudo pelade of Brocq" RELATED [GARD:0004536]
synonym: "pseudo-pelade of Brocq" RELATED [GARD:0004536]
xref: GARD:4536 {source="MONDO:GARD"}
xref: ICD10CM:L66.0 {source="Orphanet:129/ntbt", source="Orphanet:129"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:88640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531609 {source="MONDO:relatedTo", source="Orphanet:129", source="Orphanet:129/e"}
xref: Orphanet:129 {source="MONDO:equivalentTo"}
xref: SCTID:238731001 {source="MONDO:equivalentTo"}
xref: UMLS:C0086873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88640"}
is_a: MONDO:0004907 {source="Orphanet:129"} ! alopecia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq" xsd:anyURI {source="GARD:0004536"}

[Term]
id: MONDO:0015262
name: brachyolmia
def: "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." [Orphanet:1293]
subset: disease_grouping
subset: gard_rare {source="GARD:10903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1293"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachyrachia" EXACT [DOID:0050690]
xref: DOID:0050690 {source="MONDO:equivalentTo"}
xref: GARD:10903 {source="MONDO:GARD"}
xref: ICD10CM:Q76.3 {source="Orphanet:1293/attributed", source="Orphanet:1293/ntbt", source="Orphanet:1293"}
xref: ICD9:756.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537098 {source="Orphanet:1293/e", source="MONDO:equivalentTo", source="Orphanet:1293"}
xref: Orphanet:1293 {source="MONDO:equivalentTo", source="DOID:0050690"}
xref: SCTID:254088006 {source="MONDO:equivalentTo"}
xref: UMLS:C0432228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96584"}
is_a: MONDO:0005516 {source="DOID:0050690", source="MESH:C537098"} ! osteochondrodysplasia
is_a: MONDO:0019694 {source="Orphanet:1293"} ! spondylodysplastic dysplasia

[Term]
id: MONDO:0015263
name: Brugada syndrome
def: "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." [NCIT:C142891]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1030", source="MONDO:GARD"}
subset: nord_rare {source="NORD:878", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:130"}
subset: orphanet_rare {source="Orphanet:130"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bangungut" EXACT [DOID:0050451, Orphanet:130]
synonym: "Brugada syndrome" EXACT CLINGEN_LABEL [NCIT:C142891]
synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [DOID:0050451, Orphanet:130]
synonym: "dream disease" EXACT [DOID:0050451, Orphanet:130]
synonym: "idiopathic ventricular fibrillation, Brugada type" EXACT [Orphanet:130]
synonym: "Pokkuri death syndrome" EXACT [DOID:0050451, Orphanet:130]
synonym: "right bundle branch block, ST segment elevation, and sudden death syndrome" EXACT [NCIT:C142891]
synonym: "sudden unexpected nocturnal death syndrome" RELATED [GARD:0001030]
synonym: "sudden unexplained nocturnal death syndrome" EXACT [DOID:0050451, Orphanet:130]
synonym: "SUNDS" EXACT ABBREVIATION [DOID:0050451, Orphanet:130]
xref: DOID:0050451 {source="MONDO:equivalentTo"}
xref: GARD:1030 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="DOID:0050451", source="Orphanet:130/e", source="Orphanet:130/inclusion", source="Orphanet:130"}
xref: icd11.foundation:1250136584 {source="MONDO:equivalentTo", source="Orphanet:130"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10059027 {source="Orphanet:130/e", source="Orphanet:130"}
xref: MEDGEN:222975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053840 {source="DOID:0050451", source="Orphanet:130/e", source="MONDO:equivalentTo", source="Orphanet:130"}
xref: NCIT:C142891 {source="MONDO:equivalentTo"}
xref: NCIT:C71059 {source="DOID:0050451", source="MONDO:otherHierarchy"}
xref: NORD:878 {source="MONDO:NORD"}
xref: OMIMPS:601144 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:130 {source="DOID:0050451", source="MONDO:equivalentTo"}
xref: SCTID:418818005 {source="DOID:0050451", source="MONDO:equivalentTo"}
xref: UMLS:C1142166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:222975"}
is_a: MONDO:0000992 {source="DOID:0050451", source="MONDO:Redundant", source="MONDO:indirect"} ! heart conduction disease
is_a: MONDO:0002254 {source="NCIT:C142891"} ! syndromic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601144"} ! inherited

[Term]
id: MONDO:0015264
name: cryptogenic organizing pneumonia
def: "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found." [Orphanet:1302]
subset: gard_rare {source="GARD:1620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:873"}
subset: ordo_disorder {source="Orphanet:1302"}
subset: orphanet_rare {source="Orphanet:1302"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BOOP" RELATED EXCLUDE [DOID:0050157, GARD:0005961]
synonym: "bronchiolitis obliterans organising pneumonia" EXACT OMO:0003005 []
synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [DOID:0050157, Orphanet:1302]
synonym: "constrictive bronchiolitis" RELATED [GARD:0005961]
synonym: "COP" EXACT ABBREVIATION [https://orcid.org/0000-0003-0113-912X, Orphanet:1302]
synonym: "cryptogenic organising pneumonitis" EXACT OMO:0003005 []
synonym: "cryptogenic organizing pneumonitis" EXACT [DOID:0050157, https://orcid.org/0000-0003-0113-912X]
synonym: "idiopathic BOOP" RELATED [GARD:0001620]
synonym: "idiopathic bronchiolitis obliterans organising pneumonia" RELATED OMO:0003005 []
synonym: "idiopathic bronchiolitis obliterans organizing pneumonia" RELATED [GARD:0001620]
synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT OMO:0003005 []
synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [DOID:0050157]
synonym: "organising pneumonia" EXACT OMO:0003005 []
synonym: "Organizing Pneumonia" EXACT [NORD:873]
synonym: "organizing pneumonia" EXACT [GARD:0005961]
xref: DOID:0050157 {source="MONDO:equivalentTo"}
xref: EFO:1001300 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:1620 {source="MONDO:GARD"}
xref: ICD10CM:J84.1 {source="Orphanet:1302", source="Orphanet:1302/ntbt"}
xref: ICD10CM:J84.116 {source="DOID:0050157", source="MONDO:equivalentTo"}
xref: icd11.foundation:1937662238 {source="MONDO:equivalentTo", source="Orphanet:1302", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:516.36 {source="DOID:0050157"}
xref: MEDGEN:116663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018549 {source="DOID:0050157", source="MONDO:equivalentTo", source="Orphanet:1302", source="Orphanet:1302/e"}
xref: NANDO:1200421 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C62586 {source="DOID:0050157", source="MONDO:equivalentTo"}
xref: NORD:873 {source="MONDO:NORD"}
xref: Orphanet:1302 {source="MONDO:equivalentTo"}
xref: Orphanet:1303 {source="GARD:0005961"}
xref: SCTID:129458007 {source="DOID:0050157"}
xref: SCTID:68409003 {source="MONDO:equivalentTo"}
xref: SCTID:719218000 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0242770 {source="MEDGEN:116663", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002429 {source="DOID:0050157", source="MESH:D018549", source="Orphanet:1302"} ! idiopathic interstitial pneumonia
is_a: MONDO:0043905 {source="NCIT:C62586"} ! pneumonitis
relationship: disease_has_feature HP:0001824 ! Weight loss
relationship: disease_has_feature HP:0003674 ! Onset
relationship: disease_has_feature HP:0100699 ! Scarring
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4417" xsd:anyURI

[Term]
id: MONDO:0015265
name: bronchiolitis obliterans syndrome
def: "A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction." [https://orcid.org/0000-0001-5208-3432, Orphanet:1303]
comment: This is restricted to lung transplant patients.
subset: gard_rare {source="GARD:5961", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1303"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BO" RELATED ABBREVIATION [NCIT:C62580]
synonym: "BOOP" EXACT ABBREVIATION [Orphanet:1303]
synonym: "bronchiolitis exudativa" RELATED [DOID:2799]
synonym: "bronchiolitis fibrosa obliterans" EXACT [DOID:2799]
synonym: "bronchiolitis obliterans" RELATED [MONDO:ambiguous]
synonym: "bronchiolitis obliterans with obstructive pulmonary disease" NARROW [Orphanet:1303]
synonym: "constrictive bronchiolitis" EXACT [Orphanet:1303]
synonym: "obliterative bronchiolitis" RELATED [DOID:2799, Orphanet:1303]
synonym: "organised pneumonia" EXACT OMO:0003005 []
synonym: "organising pneumonia" RELATED OMO:0003005 []
synonym: "organized pneumonia" EXACT []
synonym: "organizing pneumonia" RELATED [GARD:0005961]
xref: DOID:2799 {source="MONDO:equivalentTo", source="EFO:0007183"}
xref: EFO:0007183 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5961 {source="MONDO:GARD"}
xref: HP:0011946 {source="MONDO:otherHierarchy"}
xref: icd11.foundation:592711730 {source="MONDO:equivalentTo", source="Orphanet:1303", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:466.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001989 {source="DOID:2799", source="EFO:0007183"}
xref: NANDO:1200745 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100039 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200209 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C62580 {source="DOID:2799"}
xref: Orphanet:1303 {source="GARD:0005961", source="MONDO:equivalentTo"}
xref: SCTID:40100001 {source="MONDO:equivalentTo", source="DOID:2799"}
xref: UMLS:C0006272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:665"}
is_a: MONDO:0002465 {source="NCIT:C62580"} ! bronchiolitis
is_a: MONDO:0005087 {source="Orphanet:1303", source="https://orcid.org/0000-0001-5208-3432"} ! respiratory system disorder
is_a: MONDO:0015925 {source="DOID:2799", source="EFO:0007183"} ! interstitial lung disease
relationship: excluded_subClassOf MONDO:0005249 {source="https://orcid.org/0000-0001-5208-3432"} ! pneumonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5260" xsd:anyURI

[Term]
id: MONDO:0015266
name: obsolete brucellosis
is_obsolete: true
replaced_by: MONDO:0005683

[Term]
id: MONDO:0015267
name: Feingold syndrome
def: "Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures." [Orphanet:1305]
subset: gard_rare {source="GARD:8407", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1305"}
subset: ordo_malformation_syndrome {source="Orphanet:1305"}
subset: orphanet_rare {source="Orphanet:1305"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brunner-Winter syndrome" EXACT [Orphanet:1305]
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" EXACT [DOID:0060464, Orphanet:1305]
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum" RELATED [GARD:0008407]
synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum" EXACT OMO:0003005 []
synonym: "FGLDS" EXACT ABBREVIATION [DOID:0060464, Orphanet:1305]
synonym: "FS" EXACT ABBREVIATION [Orphanet:1305]
synonym: "microcephaly-digital anomalies-normal intelligence syndrome" EXACT [DOID:0060464, Orphanet:1305]
synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome" EXACT [Orphanet:1305]
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" EXACT [DOID:0060464]
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome" EXACT [Orphanet:1305]
synonym: "MMT" EXACT ABBREVIATION [Orphanet:1305]
synonym: "MODED syndrome" EXACT [DOID:0060464, Orphanet:1305]
synonym: "oculo-digito-esophageal-duodenal syndrome" EXACT [DOID:0060464, Orphanet:1305]
synonym: "ODED syndrome" EXACT [DOID:0060464, Orphanet:1305]
xref: DOID:0060464 {source="MONDO:equivalentTo"}
xref: GARD:8407 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060464", source="Orphanet:1305", source="Orphanet:1305/attributed", source="Orphanet:1305/ntbt"}
xref: MEDGEN:163209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537734 {source="DOID:0060464"}
xref: NCIT:C74987 {source="MONDO:equivalentTo"}
xref: OMIMPS:164280 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1305 {source="DOID:0060464", source="MONDO:equivalentTo"}
xref: UMLS:C0796068 {source="MEDGEN:163209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0060464", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74987"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1305", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation
relationship: has_characteristic HP:0000006 {source="Orphanet:1305"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:164280"} ! inherited

[Term]
id: MONDO:0015268
name: medullary sponge kidney
def: "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics." [https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney]
subset: gard_rare {source="GARD:232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1421"}
subset: ordo_disorder {source="Orphanet:1309"}
subset: ordo_morphological_anomaly {source="Orphanet:1309"}
subset: orphanet_rare {source="Orphanet:1309"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cacchi Ricci disease" RELATED [GARD:0000232]
synonym: "Cacchi-Ricci disease" EXACT [Orphanet:1309]
synonym: "Cacchi-Ricci syndrome" RELATED [GARD:0000232]
synonym: "cystic dilatation of renal collecting tubes" RELATED [GARD:0000232]
synonym: "MSK" EXACT ABBREVIATION [Orphanet:1309]
synonym: "Precalicial canalicular ectasia" EXACT [Orphanet:1309]
synonym: "Precalyceal canalicular ectasia" RELATED [GARD:0000232]
synonym: "sponge kidney" RELATED [GARD:0000232]
xref: GARD:232 {source="MONDO:GARD"}
xref: ICD10CM:Q61.5 {source="Orphanet:1309/ntbt", source="Orphanet:1309/inclusion", source="Orphanet:1309"}
xref: icd11.foundation:1723148250 {source="MONDO:equivalentTo", source="Orphanet:1309"}
xref: ICD9:753.17 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10027104 {source="Orphanet:1309/e", source="Orphanet:1309"}
xref: MEDGEN:5970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007691 {source="Orphanet:1309/e", source="MONDO:equivalentTo", source="Orphanet:1309"}
xref: NANDO:2200173 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34751 {source="MONDO:equivalentTo"}
xref: NORD:1421 {source="MONDO:NORD"}
xref: Orphanet:1309 {source="MONDO:equivalentTo"}
xref: SCTID:236443009 {source="MONDO:equivalentTo"}
xref: UMLS:C0022681 {source="MEDGEN:5970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002473 {source="MESH:D007691", source="NCIT:C34751"} ! cystic kidney disease
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:1309", source="Orphanet:1309/inferred"} ! kidney disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1309", source="Orphanet:1309/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney" xsd:anyURI {source="GARD:0000232"}

[Term]
id: MONDO:0015269
name: symmetrical thalamic calcifications
def: "Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness." [Orphanet:1314]
subset: gard_rare {source="GARD:5070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1314"}
subset: orphanet_rare {source="Orphanet:1314"}
subset: rare
synonym: "bilateral symmetrical thalamic gliosis" EXACT [Orphanet:1314]
xref: GARD:5070 {source="MONDO:GARD"}
xref: ICD10CM:G93.8 {source="Orphanet:1314", source="Orphanet:1314/ntbt"}
xref: MEDGEN:930583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1314 {source="MONDO:equivalentTo"}
xref: SCTID:719164000 {source="MONDO:equivalentTo"}
xref: UMLS:C4304914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930583"}
is_a: MONDO:0005071 {source="Orphanet:1314"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications" xsd:anyURI {source="GARD:0005070"}

[Term]
id: MONDO:0015270
name: butyrylcholinesterase deficiency
def: "Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency." [Orphanet:132]
subset: gard_rare {source="GARD:7482", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:132"}
subset: orphanet_rare {source="Orphanet:132"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acholinesterasemia" RELATED [OMIM:617936]
synonym: "apnea, postanesthetic" RELATED [GARD:0007482, OMIM:617936]
synonym: "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" EXACT [OMIM:617936, OMIM:genemap2]
synonym: "BCHED" RELATED ABBREVIATION [OMIM:617936]
synonym: "butyrylcholinesterase deficiency" EXACT CLINGEN_LABEL [OMIM:617936]
synonym: "butyrylcholinesterase deficiency, fluoride-resistant, Japanese type" RELATED [OMIM:617936]
synonym: "cholinesterase 2 deficiency" RELATED [GARD:0007482]
synonym: "hypocholinesterasemia, fluoride-resistant, Japanese type" RELATED [OMIM:617936]
synonym: "pseudocholinesterase deficiency" RELATED [GARD:0007482, OMIM:617936]
synonym: "pseudocholinesterase E1" RELATED [GARD:0007482]
synonym: "succinylcholine sensitivity" RELATED [GARD:0007482]
synonym: "Suxamethonium sensitivity" RELATED [GARD:0007482, OMIM:617936]
xref: GARD:7482 {source="MONDO:GARD"}
xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537417 {source="Orphanet:132/e", source="MONDO:equivalentTo", source="Orphanet:132"}
xref: OMIM:617936 {source="MONDO:equivalentTo"}
xref: Orphanet:132 {source="MONDO:equivalentTo", source="OMIM:617936"}
xref: SCTID:191397007 {source="MONDO:equivalentTo"}
xref: UMLS:C1283400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220923"}
is_a: MONDO:0019253 {source="Orphanet:132"} ! metabolic disease involving other neurotransmitter deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0015271
name: idiopathic camptocormia
def: "Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology." [Orphanet:1320]
subset: gard_rare {source="GARD:1063", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1320"}
subset: ordo_morphological_anomaly {source="Orphanet:1320"}
subset: orphanet_rare {source="Orphanet:1320"}
subset: rare
synonym: "bent spine" RELATED [GARD:0001063]
synonym: "bent spine syndrome" RELATED [GARD:0001063]
synonym: "camptocormia" RELATED [GARD:0001063]
synonym: "camptocormism" RELATED [GARD:0001063]
synonym: "idiopathic camptocormism" EXACT [Orphanet:1320]
synonym: "idiopathic progressive lumbar kyphosis" EXACT [Orphanet:1320]
xref: GARD:1063 {source="MONDO:GARD"}
xref: ICD10CM:M43.8 {source="Orphanet:1320/ntbt", source="Orphanet:1320"}
xref: MedDRA:10069646 {source="Orphanet:1320", source="Orphanet:1320/e"}
xref: MEDGEN:120496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537968 {source="Orphanet:1320", source="MONDO:equivalentTo", source="Orphanet:1320/e"}
xref: Orphanet:1320 {source="MONDO:equivalentTo"}
xref: SCTID:13534001 {source="MONDO:equivalentTo"}
xref: UMLS:C0264162 {source="MEDGEN:120496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016105 {source="Orphanet:1320"} ! acquired skeletal muscle disease
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0015272
name: camptodactyly-taurinuria syndrome
def: "Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." [Orphanet:1325]
subset: gard_rare {source="GARD:1069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1325"}
subset: ordo_malformation_syndrome {source="Orphanet:1325"}
subset: orphanet_rare {source="Orphanet:1325"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camptodactyly taurinuria" RELATED [GARD:0001069]
synonym: "camptodactyly with taurinuria" RELATED [GARD:0001069]
synonym: "familial streblodactyly with amino-aciduria" EXACT [Orphanet:1325]
xref: GARD:1069 {source="MONDO:GARD"}
xref: ICD10CM:Q68.1 {source="Orphanet:1325", source="Orphanet:1325/attributed", source="Orphanet:1325/ntbt"}
xref: MEDGEN:419871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537972 {source="MONDO:equivalentTo", source="Orphanet:1325", source="Orphanet:1325/e"}
xref: Orphanet:1325 {source="MONDO:equivalentTo"}
xref: SCTID:733466005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419871"}
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0021147 {source="Orphanet:1325", source="Orphanet:1325/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0015273
name: complete atrioventricular canal
def: "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow." [Orphanet:1329]
subset: gard_rare {source="GARD:1454", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1329"}
subset: ordo_morphological_anomaly {source="Orphanet:1329"}
subset: orphanet_rare {source="Orphanet:1329"}
subset: rare
synonym: "CAVC" EXACT ABBREVIATION [Orphanet:1329]
synonym: "common atrioventricular canal" RELATED EXCLUDE [Orphanet:1329]
synonym: "complete atrioventricular septal defect" EXACT [Orphanet:1329]
xref: GARD:1454 {source="MONDO:GARD"}
xref: ICD10CM:Q21.2 {source="Orphanet:1329/inclusion", source="Orphanet:1329", source="Orphanet:1329/ntbt"}
xref: ICD9:745.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:65132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535974 {source="MONDO:equivalentTo"}
xref: NANDO:2100086 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200269 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:1329 {source="MONDO:equivalentTo"}
xref: SCTID:360481003 {source="MONDO:equivalentTo"}
xref: UMLS:C0221215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65132"}
is_a: MONDO:0020290 {source="Orphanet:1329"} ! familial atrioventricular septal defect
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-canal" xsd:anyURI {source="GARD:0001454"}

[Term]
id: MONDO:0015274
name: chronic beryllium disease
def: "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea." [Orphanet:133]
subset: gard_rare {source="GARD:867", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:133"}
subset: orphanet_rare {source="Orphanet:133"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute berylliosis" RELATED [GARD:0000867]
synonym: "berylliosis" EXACT [MONDO:0005666, Orphanet:133]
synonym: "beryllium disease" RELATED [GARD:0000867]
synonym: "beryllium poisoning" EXACT [DOID:10322]
synonym: "Beryllliosis" RELATED [GARD:0000867]
synonym: "chronic berylliosis" EXACT [Orphanet:133]
synonym: "chronic beryllium lung disease" EXACT [Orphanet:133]
synonym: "chronic pulmonary berylliosis" RELATED [GARD:0000867]
synonym: "reversible berylliosis" RELATED [GARD:0000867]
synonym: "Subacute berylliosis" RELATED [GARD:0000867]
xref: DOID:10322 {source="MONDO:equivalentTo", source="EFO:0007168"}
xref: EFO:0007168 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:867 {source="MONDO:GARD"}
xref: ICD10CM:J63.2 {source="Orphanet:133/e", source="Orphanet:133", source="DOID:10322"}
xref: icd11.foundation:212013370 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:133"}
xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10004485 {source="Orphanet:133/e", source="Orphanet:133"}
xref: MEDGEN:67440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001607 {source="Orphanet:133/e", source="MONDO:equivalentTo", source="Orphanet:133", source="DOID:10322", source="EFO:0007168"}
xref: Orphanet:133 {source="MONDO:equivalentTo"}
xref: SCTID:18121009 {source="MONDO:equivalentTo"}
xref: SCTID:8247009 {source="DOID:10322"}
xref: UMLS:C0221052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67440"}
is_a: MONDO:0015926 {source="DOID:10322", source="EFO:0007168", source="MESH:D001607", source="MONDO:Redundant", source="Orphanet:133"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus CHEBI:33780 ! beryllium molecular entity

[Term]
id: MONDO:0015275
name: partial atrioventricular canal
def: "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea." [Orphanet:1330]
subset: gard_rare {source="GARD:4229", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1330"}
subset: ordo_morphological_anomaly {source="Orphanet:1330"}
subset: orphanet_rare {source="Orphanet:1330"}
subset: rare
synonym: "partial atrioventricular canal defect" EXACT [Orphanet:1330]
synonym: "partial atrioventricular septal defects" RELATED [GARD:0004229]
synonym: "partial AVSD" RELATED [GARD:0004229]
synonym: "partial common atrioventricular canal" RELATED [GARD:0004229]
synonym: "PAVC" EXACT ABBREVIATION [Orphanet:1330]
xref: GARD:4229 {source="MONDO:GARD"}
xref: ICD10CM:Q21.2 {source="Orphanet:1330", source="Orphanet:1330/ntbt"}
xref: MEDGEN:868879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536112 {source="Orphanet:1330", source="MONDO:equivalentTo", source="Orphanet:1330/e"}
xref: NANDO:2200268 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:1330 {source="MONDO:equivalentTo"}
xref: SCTID:718216009 {source="MONDO:equivalentTo"}
xref: UMLS:C4023290 {source="MEDGEN:868879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020290 {source="Orphanet:1330"} ! familial atrioventricular septal defect
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-canal" xsd:anyURI {source="GARD:0004229"}

[Term]
id: MONDO:0015276
name: obsolete prostate cancer
is_obsolete: true
replaced_by: MONDO:0008315

[Term]
id: MONDO:0015277
name: medullary thyroid gland carcinoma
def: "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy." [NCIT:C3879]
subset: gard_rare {source="GARD:7004", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1332"}
subset: orphanet_rare {source="Orphanet:1332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C cell carcinoma" EXACT [NCIT:C3879]
synonym: "carcinoma of parafollicular cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, C-cell, malignant" EXACT [NCIT:C3879]
synonym: "medullary carcinoma" EXACT [NCIT:C3879]
synonym: "medullary carcinoma of the thyroid" EXACT [NCIT:C3879]
synonym: "medullary carcinoma of the thyroid gland" EXACT [DOID:3973, NCIT:C3879]
synonym: "medullary carcinoma of thyroid" EXACT [NCIT:C3879]
synonym: "medullary carcinoma of thyroid gland" EXACT [NCIT:C3879]
synonym: "medullary thyroid cancer" EXACT [NCIT:C3879]
synonym: "medullary thyroid cancer (MTC)" RELATED [GARD:0007004]
synonym: "medullary thyroid carcinoma" EXACT [DOID:3973, MONDO:ambiguous, NCIT:C3879]
synonym: "medullary thyroid gland carcinoma" EXACT [NCIT:C3879]
synonym: "MTC" EXACT ABBREVIATION [NCIT:C3879, Orphanet:1332]
synonym: "parafollicular cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C3879]
synonym: "THME" RELATED ABBREVIATION [ONCOTREE:THME]
synonym: "thyroid cancer, medullary" RELATED [GARD:0007004]
synonym: "thyroid carcinoma, medullary" RELATED [GARD:0007004]
synonym: "thyroid gland medullary cancer" EXACT [NCIT:C3879]
synonym: "thyroid gland medullary carcinoma" EXACT [MONDO:0002823, NCIT:C3879]
synonym: "thyroid gland neuroendocrine carcinoma" EXACT [NCIT:C3879]
synonym: "thyroid medullary carcinoma" EXACT [NCIT:C3879]
synonym: "ultimobranchial thyroid tumor" EXACT [DOID:3973]
synonym: "ultimobranchial thyroid tumour" EXACT OMO:0003005 []
xref: DOID:3973 {source="MONDO:equivalentTo"}
xref: GARD:7004 {source="MONDO:GARD"}
xref: HP:0002865 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C73 {source="Orphanet:1332", source="Orphanet:1332/ntbt"}
xref: icd11.foundation:578519098 {source="Orphanet:1332", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10027101 {source="Orphanet:1332", source="Orphanet:1332/e"}
xref: MEDGEN:66772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536914 {source="Orphanet:1332", source="DOID:3973", source="Orphanet:1332/e"}
xref: NANDO:2201054 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3879 {source="DOID:3973", source="MONDO:equivalentTo"}
xref: ONCOTREE:THME {source="MONDO:equivalentTo"}
xref: Orphanet:1332 {source="MONDO:equivalentTo"}
xref: SCTID:128916007 {source="DOID:3973"}
xref: SCTID:255032005 {source="DOID:3973", source="MONDO:equivalentTo"}
xref: SCTID:32913002 {source="DOID:3973"}
xref: UMLS:C0238462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66772"}
is_a: MONDO:0002120 {source="NCIT:C3879"} ! neuroendocrine carcinoma
is_a: MONDO:0005034 {source="DOID:3973"} ! thyroid gland follicular carcinoma
is_a: MONDO:0015075 {source="DOID:3973/inferred", source="MONDO:Entailed", source="NCIT:C3879", source="Orphanet:1332"} ! thyroid gland carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location CL:0000570 ! parafollicular cell
relationship: disease_arises_from_structure CL:0000570 ! parafollicular cell

[Term]
id: MONDO:0015278
name: familial pancreatic carcinoma
def: "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives." [Orphanet:1333]
subset: gard_rare {source="GARD:4206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1333"}
subset: orphanet_rare {source="Orphanet:1333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial pancreatic cancer" EXACT [NCIT:C43298, Orphanet:1333]
synonym: "familial pancreatic carcinoma" EXACT [NCIT:C43298]
synonym: "hereditary exocrine pancreatic carcinoma" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary pancreatic cancer" EXACT [NCIT:C43298]
synonym: "hereditary pancreatic carcinoma" EXACT [NCIT:C43298]
synonym: "pancreatic acinar carcinoma" RELATED [OMIM:260350]
synonym: "pancreatic cancer, somatic" EXACT [OMIM:260350, OMIM:genemap2]
synonym: "pancreatic carcinoma, somatic" EXACT [OMIM:260350, OMIM:genemap2]
xref: GARD:4206 {source="MONDO:GARD"}
xref: ICD10CM:C25 {source="Orphanet:1333/inclusion", source="Orphanet:1333/ntbt", source="Orphanet:1333"}
xref: MEDGEN:419700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535837 {source="Orphanet:1333", source="MONDO:equivalentTo", source="Orphanet:1333/e"}
xref: NCIT:C43298 {source="MONDO:equivalentTo"}
xref: OMIM:260350 {source="Orphanet:1333/ntbt", source="Orphanet:1333", source="MONDO:equivalentTo"}
xref: Orphanet:1333 {source="MONDO:equivalentTo"}
xref: SCTID:715414009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931038 {source="MEDGEN:419700", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:1333"} ! pancreas disorder
is_a: MONDO:0005192 {source="MONDO:Redundant", source="NCIT:C43298", source="Orphanet:1333"} ! exocrine pancreatic carcinoma
intersection_of: MONDO:0005192 ! exocrine pancreatic carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015618", source="MONDO:0016314"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0015279
name: chronic mucocutaneous candidiasis
subset: gard_rare {source="GARD:1077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1334"}
subset: orphanet_rare {source="Orphanet:1334"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CANDF" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "chronic mucocutaneous candidiasis" EXACT [DOID:2058, MONDO:ambiguous, NCIT:C34444]
synonym: "chronic mucocutaneous candidiasis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "CMC" EXACT ABBREVIATION [Orphanet:1334]
synonym: "familial candidiasis" EXACT [OMIMPS:114580]
synonym: "familial chronic mucocutaneous candidiasis" EXACT [MONDO:0024486]
synonym: "familial CMC" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2058 {source="MONDO:equivalentTo"}
xref: GARD:1077 {source="MONDO:GARD"}
xref: HP:0002728 {source="MONDO:otherHierarchy"}
xref: ICD10CM:B37.2 {source="Orphanet:1334/attributed", source="Orphanet:1334/ntbt", source="Orphanet:1334"}
xref: icd11.foundation:2120780687 {source="Orphanet:1334", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10009007 {source="Orphanet:1334", source="Orphanet:1334/e"}
xref: MEDGEN:2426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002178 {source="Orphanet:1334", source="DOID:2058", source="MONDO:equivalentTo", source="Orphanet:1334/e"}
xref: NANDO:1200363 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200764 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34444 {source="DOID:2058", source="MONDO:equivalentTo"}
xref: OMIMPS:114580 {source="MONDO:equivalentTo"}
xref: Orphanet:1334 {source="DOID:2058", source="MONDO:equivalentTo"}
xref: SCTID:234568006 {source="DOID:2058", source="MONDO:equivalentTo"}
xref: UMLS:C0006845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2426"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0002-0736-9199"} ! inborn error of immunity
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0005093 ! skin disorder
relationship: excluded_subClassOf MONDO:0015979 {source="Orphanet:1334", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary predisposition to infections
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:114580"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5661" xsd:anyURI
property_value: IAO:0000589 "chronic mucocutaneous candidiasis (disease)" xsd:string

[Term]
id: MONDO:0015280
name: cardiofaciocutaneous syndrome
def: "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability." [Orphanet:1340]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9146", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:891"}
subset: ordo_disorder {source="Orphanet:1340"}
subset: ordo_malformation_syndrome {source="Orphanet:1340"}
subset: orphanet_rare {source="Orphanet:1340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardio-facial-cutaneous syndrome" EXACT [DOID:0060233]
synonym: "cardio-facio-cutaneous syndrome" RELATED [GARD:0009146]
synonym: "cardiofaciocutaneous (CFC) syndrome" EXACT [NCIT:C84617]
synonym: "cardiofaciocutaneous syndrome" EXACT CLINGEN_LABEL []
synonym: "CFC" EXACT ABBREVIATION [NCIT:C84617]
synonym: "CFC syndrome" EXACT [DOID:0060233, Orphanet:1340]
synonym: "congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure" RELATED [GARD:0009146]
xref: DOID:0060233 {source="MONDO:equivalentTo"}
xref: GARD:9146 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1340", source="DOID:0060233", source="Orphanet:1340/attributed", source="Orphanet:1340/ntbt"}
xref: MEDGEN:266149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535579 {source="Orphanet:1340", source="MONDO:equivalentTo", source="Orphanet:1340/e"}
xref: NANDO:1200462 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200967 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84617 {source="MONDO:equivalentTo"}
xref: NORD:891 {source="MONDO:NORD"}
xref: OMIMPS:115150 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1340 {source="DOID:0060233", source="MONDO:equivalentTo"}
xref: SCTID:403770008 {source="MONDO:equivalentTo"}
xref: UMLS:C1275081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266149"}
is_a: MONDO:0002254 {source="DOID:0060233", source="MONDO:Redundant", source="NCIT:C84617"} ! syndromic disease
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0015159 {source="Orphanet:1340"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019287 {source="MESH:C535579", source="Orphanet:1340"} ! ectodermal dysplasia syndrome
is_a: MONDO:0020297 {source="Orphanet:1340"} ! Noonan syndrome and Noonan-related syndrome
is_a: MONDO:0021060 {source="Orphanet:textdef", source="https://orcid.org/0000-0002-6601-2165"} ! RASopathy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1340", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:115150"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015281
name: atrial standstill
def: "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." [Orphanet:1344]
subset: gard_rare {source="GARD:16564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1344"}
subset: orphanet_rare {source="Orphanet:1344"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrial cardiomyopathy with heart block" EXACT [Orphanet:1344]
xref: GARD:16564 {source="MONDO:GARD"}
xref: ICD10CM:I45.5 {source="Orphanet:1344/attributed", source="Orphanet:1344/ntbt", source="Orphanet:1344"}
xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:639047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563984 {source="MONDO:equivalentTo"}
xref: Orphanet:1344 {source="MONDO:equivalentTo"}
xref: SCTID:450919004 {source="MONDO:equivalentTo"}
xref: UMLS:C0541782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:639047"}
is_a: MONDO:0016340 {source="Orphanet:1344"} ! familial restrictive cardiomyopathy

[Term]
id: MONDO:0015282
name: cardiomyopathy-cataract-hip spine disease syndrome
def: "Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." [Orphanet:1345]
subset: gard_rare {source="GARD:1102", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1345"}
subset: orphanet_rare {source="Orphanet:1345"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy cataract hip spine disease" RELATED [GARD:0001102]
synonym: "familial dilated cardiomyopathy associated with cataracts and hip-spine disease" RELATED [GARD:0001102]
synonym: "Krasnow Qazi syndrome" RELATED [GARD:0001102]
synonym: "Krasnow Qazi Yermakov syndrome" RELATED [GARD:0001102]
synonym: "Krasnow-Qazi syndrome" EXACT [Orphanet:1345]
xref: GARD:1102 {source="MONDO:GARD"}
xref: MEDGEN:419439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537616 {source="MONDO:equivalentTo"}
xref: Orphanet:1345 {source="GARD:0001102", source="MONDO:equivalentTo"}
xref: SCTID:720609003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931548 {source="MEDGEN:419439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:1345"} ! syndromic disease
relationship: disease_has_major_feature HP:0000518 {source="Orphanet:1345"} ! Cataract
relationship: disease_has_major_feature HP:0001644 {source="Orphanet:1345"} ! Dilated cardiomyopathy
relationship: disease_has_major_feature MONDO:0003816 {source="Orphanet:1345"} ! articular cartilage disorder
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:1345", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease" xsd:anyURI {source="GARD:0001102"}

[Term]
id: MONDO:0015283
name: maternally-inherited cardiomyopathy and hearing loss
def: "Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." [Orphanet:1349]
subset: gard_rare {source="GARD:18719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1349"}
subset: ordo_malformation_syndrome {source="Orphanet:1349"}
subset: orphanet_rare {source="Orphanet:1349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternally-inherited cardiomyopathy and deafness" EXACT [Orphanet:1349]
synonym: "tRNA-LYS-related cardiomyopathy-hearing loss syndrome" EXACT [Orphanet:1349]
xref: GARD:18719 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:1349", source="Orphanet:1349/attributed", source="Orphanet:1349/ntbt"}
xref: MEDGEN:1376897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1349 {source="MONDO:equivalentTo"}
xref: UMLS:C4510409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376897"}
is_a: MONDO:0044970 {source="Orphanet:1349", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease

[Term]
id: MONDO:0015284
name: heart-hand syndrome type 2
def: "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." [Orphanet:1350]
subset: gard_rare {source="GARD:9847", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1350"}
subset: ordo_malformation_syndrome {source="Orphanet:1350"}
subset: orphanet_rare {source="Orphanet:1350"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atriodigital dysplasia type 2" EXACT [Orphanet:1350]
synonym: "heart-hand syndrome 2" RELATED [GARD:0009847]
synonym: "Tabatznik syndrome" EXACT [Orphanet:1350]
xref: GARD:9847 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:1350/attributed", source="Orphanet:1350/ntbt", source="Orphanet:1350"}
xref: MEDGEN:444030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536784 {source="MONDO:equivalentTo"}
xref: Orphanet:1350 {source="MONDO:equivalentTo"}
xref: SCTID:721010003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444030"}
is_a: MONDO:0015161 {source="Orphanet:1350"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0016432 {source="Orphanet:1350"} ! heart-hand syndrome

[Term]
id: MONDO:0015285
name: Carney complex
def: "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas." [Orphanet:1359]
subset: gard_rare {source="GARD:1119", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1359"}
subset: orphanet_rare {source="Orphanet:1359"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrial myxoma with lentigines" EXACT [NCIT:C4705]
synonym: "Carney complex" EXACT CLINGEN_LABEL []
synonym: "Carney complex variant" RELATED EXCLUDE [DOID:0050471]
synonym: "Carney Complex, type 1" NARROW [DOID:0050471]
synonym: "Carney Complex, type 2" NARROW [DOID:0050471]
synonym: "Carney syndrome" EXACT [DOID:0050471, Orphanet:1359]
synonym: "Carney's syndrome" EXACT [NCIT:C4705]
synonym: "CNC" EXACT ABBREVIATION [NCIT:C4705]
synonym: "lamb" EXACT [NCIT:C4705]
synonym: "lamb syndrome" EXACT [DOID:0050471]
synonym: "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome" EXACT [NCIT:C4705]
synonym: "Myxoma - spotty pigmentation - endocrine overactivity" RELATED [GARD:0001119]
synonym: "Myxoma-spotty pigmentation-endocrine overactivity syndrome" EXACT [Orphanet:1359]
synonym: "NAME syndrome" EXACT [DOID:0050471]
synonym: "nevi, atrial myxoma, skin myxoma, ephelides syndrome" EXACT [NCIT:C4705]
xref: DOID:0050471 {source="MONDO:equivalentTo"}
xref: GARD:1119 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="MONDO:relatedTo", source="Orphanet:1359", source="Orphanet:1359/attributed", source="Orphanet:1359/ntbt"}
xref: MEDGEN:140810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056733 {source="MONDO:equivalentTo", source="Orphanet:1359", source="DOID:0050471", source="Orphanet:1359/e"}
xref: NANDO:1200756 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4705 {source="MONDO:equivalentTo", source="DOID:0050471"}
xref: Orphanet:1359 {source="MONDO:equivalentTo", source="DOID:0050471"}
xref: SCTID:239132009 {source="DOID:0050471"}
xref: SCTID:733491005 {source="MONDO:equivalentTo"}
xref: UMLS:C0406810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140810"}
is_a: MONDO:0000426 {source="DOID:0050471", source="MONDO:Redundant"} ! autosomal dominant disease
relationship: disease_has_feature MONDO:0015079 {source="Orphanet:1359"} ! multiple polyglandular tumor
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:1359"} ! hyperpigmentation of the skin
relationship: disease_has_feature MONDO:0021227 {source="Orphanet:1359"} ! adrenal gland neoplasm
relationship: has_characteristic HP:0000006 {source="Orphanet:1359"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0015286
name: congenital disorder of glycosylation
def: "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation." [Orphanet:137]
subset: disease_grouping
subset: gard_rare {source="GARD:10307", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:137"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome" EXACT [Orphanet:137]
synonym: "carbohydrate-deficient glycoprotein syndrome" EXACT [DOID:5212]
synonym: "carbohydrate-deficient glycoprotein syndromes" RELATED [GARD:0010307]
synonym: "CDG" EXACT ABBREVIATION [Orphanet:137]
synonym: "congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "congenital disorders of glycosylation" RELATED [GARD:0010307]
xref: DOID:5212 {source="MONDO:equivalentTo"}
xref: GARD:10307 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:137", source="Orphanet:137/attributed", source="Orphanet:137/ntbt"}
xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:76469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018981 {source="DOID:5212", source="MONDO:equivalentTo"}
xref: NCIT:C84615 {source="DOID:5212", source="MONDO:equivalentTo"}
xref: Orphanet:137 {source="DOID:5212", source="MONDO:equivalentTo"}
xref: SCTID:238049009 {source="DOID:5212", source="MONDO:equivalentTo"}
xref: UMLS:C0282577 {source="MEDGEN:76469", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="Orphanet:137"} ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0070085 ! glycosylation
relationship: disease_has_basis_in_disruption_of GO:0070085 ! glycosylation
relationship: excluded_subClassOf MONDO:0019214 {source="DOID:5212", source="MESH:D018981", source="MONDO:Redundant", source="NCIT:C84615", source="https://github.com/monarch-initiative/mondo/issues/1494", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-6330-7526"} ! inborn carbohydrate metabolic disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015287
name: obsolete vulvar intraepithelial neoplasia
is_obsolete: true
replaced_by: MONDO:0005198

[Term]
id: MONDO:0015288
name: herpes simplex virus keratitis
def: "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)" [MESH:D016849]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dendritic keratitis" EXACT [DOID:0080158]
synonym: "herpetic keratitis" EXACT [Orphanet:137586]
synonym: "HSV keratitis" EXACT [Orphanet:137586]
synonym: "Simplexvirus caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus keratitis" EXACT []
xref: DOID:0080158 {source="MONDO:equivalentTo"}
xref: EFO:0007308 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10EXP:B00.5+ {source="Orphanet:137586", source="Orphanet:137586/e"}
xref: ICD10EXP:H19.1* {source="Orphanet:137586", source="Orphanet:137586/e"}
xref: MEDGEN:5534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007635 {source="DOID:0080158", source="EFO:0007308"}
xref: MESH:D016849 {source="DOID:0080158"}
xref: NCIT:C34743 {source="MONDO:equivalentTo"}
xref: Orphanet:137586 {source="MONDO:equivalentObsolete"}
xref: SCTID:9389005 {source="MONDO:equivalentTo"}
xref: UMLS:C0019357 {source="MONDO:equivalentTo", source="MEDGEN:5534", source="MONDO:MEDGEN"}
is_a: MONDO:0003085 {source="DOID:0080158", source="MONDO:Redundant", source="NCIT:C34743/inferred"} ! keratitis
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0000964 ! cornea
intersection_of: MONDO:0100332 NCBITaxon:10294 ! disease has primary infectious agent Simplexvirus

[Term]
id: MONDO:0015289
name: infectious epithelial keratitis
def: "Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent." [Orphanet:137593]
subset: gard_rare {source="GARD:19877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137593"}
subset: orphanet_rare {source="Orphanet:137593"}
subset: rare
xref: GARD:19877 {source="MONDO:GARD"}
xref: MEDGEN:1660649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137593 {source="MONDO:equivalentTo"}
xref: UMLS:C4749790 {source="MEDGEN:1660649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020950 {source="https://orcid.org/0000-0002-6601-2165"} ! viral eye infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0001772 ! corneal epithelium
relationship: disease_has_inflammation_site UBERON:0001772 ! corneal epithelium
relationship: excluded_subClassOf MONDO:0015288 {source="Orphanet:137593", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex virus keratitis

[Term]
id: MONDO:0015290
name: neurotrophic keratopathy
def: "Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision." [Orphanet:137596]
subset: gard_rare {source="GARD:19878", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137596"}
subset: orphanet_rare {source="Orphanet:137596"}
subset: rare
synonym: "neurotrophic keratitis" EXACT [Orphanet:137596]
xref: GARD:19878 {source="MONDO:GARD"}
xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:137596/ntbt", source="Orphanet:137596"}
xref: MedDRA:10069732 {source="Orphanet:137596/e", source="Orphanet:137596"}
xref: MEDGEN:87384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137596 {source="MONDO:equivalentTo"}
xref: SCTID:128080005 {source="MONDO:equivalentTo"}
xref: UMLS:C0339296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87384"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder

[Term]
id: MONDO:0015291
name: stromal keratitis
def: "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases." [Orphanet:137599]
subset: gard_rare {source="GARD:19879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137599"}
subset: orphanet_rare {source="Orphanet:137599"}
subset: rare
xref: GARD:19879 {source="MONDO:GARD"}
xref: ICD10CM:H16.3 {source="Orphanet:137599/ntbt", source="Orphanet:137599"}
xref: MEDGEN:727306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137599 {source="MONDO:equivalentTo"}
xref: UMLS:C1318020 {source="MEDGEN:727306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015288 {source="Orphanet:137599"} ! herpes simplex virus keratitis

[Term]
id: MONDO:0015292
name: endotheliitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the endothelium." [MONDO:patterns/inflammatory_disease_by_site]
subset: gard_rare {source="GARD:19880", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137602"}
subset: orphanet_rare {source="Orphanet:137602"}
subset: rare
synonym: "endothelium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of endothelium" EXACT []
xref: GARD:19880 {source="MONDO:GARD"}
xref: MEDGEN:602202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137602 {source="MONDO:equivalentTo"}
xref: UMLS:C0423262 {source="MEDGEN:602202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015288 {source="Orphanet:137602"} ! herpes simplex virus keratitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001986 ! endothelium

[Term]
id: MONDO:0015293
name: segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
def: "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer." [Orphanet:137608]
subset: gard_rare {source="GARD:19881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137608"}
subset: ordo_malformation_syndrome {source="Orphanet:137608"}
subset: orphanet_rare {source="Orphanet:137608"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SOLAMEN syndrome" EXACT [Orphanet:137608]
xref: GARD:19881 {source="MONDO:GARD"}
xref: MEDGEN:1637405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137608 {source="MONDO:equivalentTo"}
xref: SCTID:763867001 {source="MONDO:equivalentTo"}
xref: UMLS:C4706610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637405"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005073 {source="Orphanet:137608"} ! melanocytic nevus
is_a: MONDO:0017623 {source="Orphanet:137608"} ! PTEN hamartoma tumor syndrome
is_a: MONDO:0019716 {source="Orphanet:137608"} ! overgrowth syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015294
name: nephrogenic systemic fibrosis
def: "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease." [Orphanet:137617]
subset: gard_rare {source="GARD:9725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1498"}
subset: ordo_disorder {source="Orphanet:137617"}
subset: orphanet_rare {source="Orphanet:137617"}
subset: rare
synonym: "nephrogenic fibrosing dermopathy" EXACT [Orphanet:137617]
synonym: "NFD" RELATED ABBREVIATION [GARD:0009725]
synonym: "NSF" RELATED ABBREVIATION [GARD:0009725]
xref: GARD:9725 {source="MONDO:GARD"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10067467 {source="Orphanet:137617", source="Orphanet:137617/e"}
xref: MEDGEN:854737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054989 {source="MONDO:equivalentTo"}
xref: NCIT:C84920 {source="MONDO:equivalentTo"}
xref: NORD:1498 {source="MONDO:NORD"}
xref: Orphanet:137617 {source="MONDO:equivalentTo"}
xref: SCTID:424114000 {source="MONDO:equivalentTo"}
xref: UMLS:C3888044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854737"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis" xsd:anyURI {source="GARD:0009725"}

[Term]
id: MONDO:0015295
name: intractable diarrhea-choanal atresia-eye anomalies syndrome
def: "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously." [Orphanet:137622]
subset: gard_rare {source="GARD:19882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137622"}
subset: ordo_malformation_syndrome {source="Orphanet:137622"}
subset: orphanet_rare {source="Orphanet:137622"}
subset: rare
xref: GARD:19882 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:137622", source="Orphanet:137622/attributed", source="Orphanet:137622/ntbt"}
xref: MEDGEN:929976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137622 {source="MONDO:equivalentTo"}
xref: UMLS:C4304307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929976"}
is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:137622", source="Orphanet:137622/inferred"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare

[Term]
id: MONDO:0015296
name: cardiac anomalies-heterotaxy syndrome
def: "Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported." [Orphanet:137628]
subset: gard_rare {source="GARD:19883", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:137628"}
subset: ordo_malformation_syndrome {source="Orphanet:137628"}
subset: orphanet_rare {source="Orphanet:137628"}
subset: rare
xref: GARD:19883 {source="MONDO:GARD"}
xref: ICD10CM:Q28.8 {source="Orphanet:137628", source="Orphanet:137628/attributed", source="Orphanet:137628/ntbt"}
xref: MEDGEN:929639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137628 {source="MONDO:equivalentTo"}
xref: UMLS:C4303970 {source="MEDGEN:929639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder

[Term]
id: MONDO:0015297
name: obsolete microcephaly-digital anomalies-intellectual disability syndrome
comment: Obsolete in Orphanet
synonym: "Kelly-Kirson-Wyatt syndrome" EXACT [Orphanet:137653]
xref: ICD10CM:Q87.8 {source="Orphanet:137653", source="Orphanet:137653/attributed", source="Orphanet:137653/ntbt"}
xref: Orphanet:137653 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0009622

[Term]
id: MONDO:0015298
name: pellucid marginal degeneration
subset: gard_rare {source="GARD:11895", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137672"}
subset: orphanet_rare {source="Orphanet:137672"}
subset: rare
xref: GARD:11895 {source="MONDO:GARD"}
xref: ICD10CM:H18.7 {source="Orphanet:137672/ntbt", source="Orphanet:137672"}
xref: MEDGEN:573069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137672 {source="MONDO:equivalentTo"}
xref: UMLS:C0339288 {source="MEDGEN:573069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
relationship: disease_has_location UBERON:0000964 ! cornea
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration" xsd:anyURI {source="GARD:0011895"}

[Term]
id: MONDO:0015299
name: Asherman syndrome
subset: gard_rare {source="GARD:5853", source="MONDO:GARD"}
subset: nord_rare {source="NORD:811", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137686"}
subset: orphanet_rare {source="Orphanet:137686"}
subset: rare
synonym: "Asherman syndrome" EXACT [GARD:0005853]
synonym: "Asherman's Syndrome" EXACT [NORD:811]
synonym: "Asherman's syndrome" RELATED [GARD:0005853]
synonym: "intrauterine adhesions" EXACT [Orphanet:137686]
synonym: "intrauterine synechiae" EXACT [Orphanet:137686]
synonym: "uterine synechiae" RELATED [GARD:0005853]
xref: GARD:5853 {source="MONDO:GARD"}
xref: ICD10CM:N85.6 {source="Orphanet:137686", source="Orphanet:137686/e"}
xref: icd11.foundation:2022431339 {source="Orphanet:137686", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10022821 {source="Orphanet:137686", source="Orphanet:137686/e"}
xref: MedDRA:10053868 {source="Orphanet:137686", source="Orphanet:137686/e"}
xref: MEDGEN:57629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:811 {source="MONDO:NORD"}
xref: Orphanet:137686 {source="MONDO:equivalentTo"}
xref: SCTID:48236007 {source="MONDO:equivalentTo"}
xref: UMLS:C0156372 {source="MEDGEN:57629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="MONDO:0015859-obsoleted"} ! female reproductive system disorder

[Term]
id: MONDO:0015300
name: cataract - microcornea syndrome
def: "Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism." [Orphanet:1377]
subset: gard_rare {source="GARD:1155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1377"}
subset: ordo_malformation_syndrome {source="Orphanet:1377"}
subset: orphanet_rare {source="Orphanet:1377"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract microcornea syndrome" RELATED [GARD:0001155]
synonym: "microcornea cataract syndrome" RELATED [GARD:0001155]
xref: GARD:1155 {source="MONDO:GARD"}
xref: ICD10CM:Q13.8 {source="Orphanet:1377/attributed", source="Orphanet:1377/ntbt", source="Orphanet:1377"}
xref: MESH:C538287 {source="Orphanet:1377", source="MONDO:equivalentTo", source="Orphanet:1377/e"}
xref: Orphanet:1377 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1377", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome" xsd:anyURI {source="GARD:0001155"}

[Term]
id: MONDO:0015301
name: primary cutaneous amyloidosis
def: "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis." [Orphanet:137807]
subset: disease_grouping
subset: gard_rare {source="GARD:132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:137807"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis familial cutaneous lichen" RELATED [GARD:0000132]
synonym: "amyloidosis IX" RELATED [GARD:0000132]
synonym: "amyloidosis, primary localised cutaneous" RELATED OMO:0003005 []
synonym: "amyloidosis, primary localized cutaneous" RELATED [OMIMPS:105250]
synonym: "familial primary localised cutaneous amyloidosis" NARROW OMO:0003005 []
synonym: "familial primary localized cutaneous amyloidosis" NARROW [DOID:0050639]
synonym: "lichen amyloidosis familial" RELATED [GARD:0000132]
synonym: "PCA" RELATED EXCLUDE [DOID:0050639, GARD:0000132]
synonym: "PLCA" NARROW ABBREVIATION [Orphanet:137807]
synonym: "primary localised cutaneous amyloidosis" EXACT OMO:0003005 []
synonym: "primary localized cutaneous amyloidosis" EXACT [Orphanet:137807]
xref: DOID:0050639 {source="MONDO:equivalentTo"}
xref: GARD:132 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:137807/e", source="Orphanet:137807"}
xref: ICD10EXP:L99.0* {source="Orphanet:137807/e", source="Orphanet:137807"}
xref: MedDRA:10011659 {source="Orphanet:137807/e", source="Orphanet:137807"}
xref: MEDGEN:120635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562642 {source="MONDO:equivalentTo"}
xref: Orphanet:137807 {source="MONDO:equivalentTo", source="DOID:0050639"}
xref: SCTID:282834007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120635"}
is_a: MONDO:0019065 {source="DOID:0050639", source="MESH:C562642/inferred"} ! amyloidosis
is_a: MONDO:0021154 {source="Orphanet:137807"} ! dermis disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis" xsd:anyURI {source="GARD:0000132"}

[Term]
id: MONDO:0015302
name: nodular cutaneous amyloidosis
def: "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome." [Orphanet:137810]
subset: gard_rare {source="GARD:10562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137810"}
subset: orphanet_rare {source="Orphanet:137810"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis cutis nodularis atrophicans" RELATED [GARD:0010562]
synonym: "amyloidosis nodular localised cutaneous" EXACT OMO:0003005 []
synonym: "amyloidosis nodular localized cutaneous" EXACT [MONDO:0022446]
synonym: "NLCA" RELATED ABBREVIATION [GARD:0010562]
synonym: "PLCNA" EXACT ABBREVIATION [Orphanet:137810]
synonym: "primary localised cutaneous nodular amyloidosis" EXACT OMO:0003005 []
synonym: "primary localized cutaneous nodular amyloidosis" EXACT [Orphanet:137810]
xref: EFO:1001882 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10562 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:137810/ntbt", source="Orphanet:137810"}
xref: ICD10EXP:L99.0* {source="Orphanet:137810/ntbt", source="Orphanet:137810"}
xref: MedDRA:10056953 {source="Orphanet:137810", source="Orphanet:137810/e"}
xref: MEDGEN:900275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137810 {source="MONDO:equivalentTo"}
xref: SCTID:716704007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900275"}
is_a: MONDO:0015301 {source="Orphanet:137810"} ! primary cutaneous amyloidosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous" xsd:anyURI {source="GARD:0010562"}

[Term]
id: MONDO:0015303
name: macular amyloidosis
def: "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." [Orphanet:137814]
subset: gard_rare {source="GARD:19885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137814"}
subset: orphanet_rare {source="Orphanet:137814"}
subset: rare
xref: GARD:19885 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:137814", source="Orphanet:137814/ntbt"}
xref: ICD10EXP:L99.0* {source="Orphanet:137814", source="Orphanet:137814/ntbt"}
xref: MEDGEN:1372504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137814 {source="MONDO:equivalentTo"}
xref: UMLS:C0544839 {source="MEDGEN:1372504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015301 {source="Orphanet:137814"} ! primary cutaneous amyloidosis

[Term]
id: MONDO:0015304
name: arachnoiditis
def: "Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems." [Orphanet:137817]
subset: gard_rare {source="GARD:5839", source="MONDO:GARD"}
subset: nord_rare {source="NORD:800", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137817"}
subset: orphanet_rare {source="Orphanet:137817"}
subset: rare
synonym: "adhesive arachnoiditis" EXACT [Orphanet:137817]
synonym: "arachnoid mater inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "chronic arachnoiditis" EXACT [Orphanet:137817]
synonym: "inflammation of arachnoid mater" EXACT []
xref: DOID:12156 {source="MONDO:equivalentTo"}
xref: GARD:5839 {source="MONDO:GARD"}
xref: ICD10CM:G03 {source="DOID:12156"}
xref: ICD10CM:G03.9 {source="Orphanet:137817", source="Orphanet:137817/ntbt"}
xref: icd11.foundation:414817254 {source="MONDO:equivalentTo", source="Orphanet:137817"}
xref: MedDRA:10003074 {source="Orphanet:137817/e", source="Orphanet:137817"}
xref: MEDGEN:8175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001100 {source="Orphanet:137817/e", source="MONDO:equivalentTo", source="Orphanet:137817", source="DOID:12156"}
xref: NCIT:C37913 {source="MONDO:equivalentTo", source="DOID:12156"}
xref: NORD:800 {source="MONDO:NORD"}
xref: Orphanet:137817 {source="MONDO:equivalentTo"}
xref: SCTID:13980006 {source="MONDO:equivalentTo"}
xref: SCTID:154986008 {source="DOID:12156"}
xref: SCTID:267681007 {source="DOID:12156"}
xref: SCTID:8217007 {source="DOID:12156"}
xref: UMLS:C0003708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8175"}
is_a: MONDO:0004796 {source="DOID:12156", source="MESH:D001100"} ! infectious meningitis
is_a: MONDO:0005071 {source="MONDO:Redundant", source="Orphanet:137817"} ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002362 ! arachnoid mater
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0015305
name: obsolete rare endometriosis
def: "OBSOLETE. Rare endometriosis." []
subset: ordo_disorder {source="Orphanet:137820"}
synonym: "endometriosis outside pelvis" EXACT [Orphanet:137820]
synonym: "extrapelvic endometriosis" RELATED [Orphanet:137820]
synonym: "rare endometriosis" EXACT []
synonym: "rare endometriosis (disease)" EXACT [MONDO:patterns/rare]
xref: GARD:19886 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N80.0 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"}
xref: ICD10CM:N80.1 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"}
xref: ICD10CM:N80.2 {source="Orphanet:137820", source="Orphanet:137820/btnt"}
xref: ICD10CM:N80.3 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"}
xref: ICD10CM:N80.4 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"}
xref: ICD10CM:N80.5 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"}
xref: ICD10CM:N80.6 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"}
xref: ICD10CM:N80.8 {source="Orphanet:137820", source="Orphanet:137820/btnt"}
xref: ICD10CM:N80.9 {source="Orphanet:137820", source="Orphanet:137820/btnt"}
xref: Orphanet:137820 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:237117005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005133

[Term]
id: MONDO:0015306
name: Lemierre syndrome
def: "Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis." [Orphanet:137839]
subset: gard_rare {source="GARD:6882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137839"}
subset: orphanet_rare {source="Orphanet:137839"}
subset: rare
synonym: "acute sore throat" RELATED [DOID:11337]
synonym: "human necrobacillosis" EXACT [DOID:11337]
synonym: "Lemierre postanginal sepsis" EXACT [Orphanet:137839]
synonym: "Lemierre syndrome" EXACT [DOID:11337]
synonym: "Lemierre's syndrome" RELATED [DOID:11337]
synonym: "necrobacillosis" RELATED [GARD:0006882]
synonym: "oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein" RELATED [GARD:0006882]
synonym: "postanginal sepsis" EXACT [DOID:11337]
synonym: "postanginal sepsis secondary to orophyngeal infection" EXACT [Orphanet:137839]
synonym: "septic phlebitis of the internal jugular vein" EXACT [Orphanet:137839]
xref: DOID:11337 {source="MONDO:equivalentTo"}
xref: GARD:6882 {source="MONDO:GARD"}
xref: ICD10CM:I80.8 {source="Orphanet:137839", source="Orphanet:137839/ntbt"}
xref: ICD9:040.3 {source="DOID:11337", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10065552 {source="Orphanet:137839/e", source="Orphanet:137839"}
xref: MEDGEN:6541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005674 {source="DOID:11337"}
xref: MESH:D057831 {source="Orphanet:137839/e", source="MONDO:equivalentTo", source="Orphanet:137839"}
xref: Orphanet:137839 {source="MONDO:equivalentTo"}
xref: SCTID:52542005 {source="DOID:11337", source="MONDO:equivalentTo"}
xref: UMLS:C0027537 {source="MEDGEN:6541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000315 {source="DOID:11337"} ! commensal bacterial infectious disease
is_a: MONDO:0005113 {source="Orphanet:137839"} ! bacterial infectious disease
relationship: disease_has_feature HP:0001974 ! Leukocytosis
relationship: disease_has_feature HP:0011110 ! Recurrent tonsillitis
relationship: disease_has_feature HP:0100806 ! Sepsis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome" xsd:anyURI {source="GARD:0006882"}

[Term]
id: MONDO:0015307
name: Madras motor neuron disease
def: "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss." [Orphanet:137867]
subset: gard_rare {source="GARD:19887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137867"}
subset: orphanet_rare {source="Orphanet:137867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MMND" EXACT ABBREVIATION [Orphanet:137867]
xref: GARD:19887 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:137867", source="Orphanet:137867/attributed", source="Orphanet:137867/ntbt"}
xref: icd11.foundation:1764644031 {source="MONDO:equivalentTo", source="Orphanet:137867", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:581442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137867 {source="MONDO:equivalentTo"}
xref: UMLS:C0393551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581442"}
is_a: MONDO:0020128 {source="Orphanet:137867", source="Orphanet:137867/inferred"} ! motor neuron disorder

[Term]
id: MONDO:0015308
name: laminopathy type Decaudain-Vigouroux
def: "Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness." [Orphanet:137871]
synonym: "laminopathy with severe metabolic syndrome and myopathy" EXACT [Orphanet:137871]
xref: ICD10CM:E88.8 {source="Orphanet:137871/attributed", source="Orphanet:137871/ntbt", source="Orphanet:137871"}
xref: MEDGEN:1375333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137871 {source="MONDO:equivalentObsolete"}
xref: SCTID:724205009 {source="MONDO:equivalentTo"}
xref: UMLS:C4518324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1375333"}
is_a: MONDO:0021187 {source="Orphanet:137871"} ! hyperlipidemia
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015901"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0015309
name: obsolete Auriculocondylar syndrome
is_obsolete: true
replaced_by: MONDO:0000107

[Term]
id: MONDO:0015310
name: obsolete syndromic optic nerve hypoplasia
subset: ordo_group_of_disorders {source="Orphanet:137905"}
xref: GARD:19888 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:137905 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015311
name: autism-facial port-wine stain syndrome
def: "This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions." [Orphanet:137911]
subset: gard_rare {source="GARD:10303", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:137911"}
subset: rare
synonym: "autism with port-wine stain" RELATED [GARD:0010303]
xref: GARD:10303 {source="MONDO:GARD"}
xref: Orphanet:137911 {source="MONDO:equivalentTo", source="GARD:0010303"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10303/autism-with-port-wine-stain" xsd:anyURI {source="GARD:0010303"}

[Term]
id: MONDO:0015312
name: choanal atresia, unilateral
def: "Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition." [Orphanet:137917]
subset: gard_rare {source="GARD:19889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:137917"}
subset: rare
xref: GARD:19889 {source="MONDO:GARD"}
xref: ICD10CM:Q30.0 {source="Orphanet:137917/ntbt", source="Orphanet:137917"}
xref: MEDGEN:1843076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137917 {source="MONDO:equivalentTo"}
xref: UMLS:C5680630 {source="MEDGEN:1843076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012155 {source="Orphanet:137917"} ! choanal atresia

[Term]
id: MONDO:0015313
name: choanal atresia, bilateral
def: "Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth." [Orphanet:137920]
subset: gard_rare {source="GARD:19890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:137920"}
subset: rare
xref: GARD:19890 {source="MONDO:GARD"}
xref: ICD10CM:Q30.0 {source="Orphanet:137920/ntbt", source="Orphanet:137920"}
xref: MEDGEN:870857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137920 {source="MONDO:equivalentTo"}
xref: UMLS:C4025317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:870857"}
is_a: MONDO:0012155 {source="Orphanet:137920"} ! choanal atresia

[Term]
id: MONDO:0015314
name: primary laryngeal lymphangioma
def: "Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated." [Orphanet:137926]
subset: gard_rare {source="GARD:19891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137926"}
subset: ordo_malformation_syndrome {source="Orphanet:137926"}
subset: orphanet_rare {source="Orphanet:137926"}
subset: rare
xref: GARD:19891 {source="MONDO:GARD"}
xref: ICD10CM:D18.1 {source="Orphanet:137926/ntbt", source="Orphanet:137926"}
xref: MEDGEN:1634144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137926 {source="MONDO:equivalentTo"}
xref: SCTID:763617006 {source="MONDO:equivalentTo"}
xref: UMLS:C4706521 {source="MEDGEN:1634144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder

[Term]
id: MONDO:0015315
name: neonatal brainstem dysfunction
def: "Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported." [Orphanet:137929]
subset: gard_rare {source="GARD:19892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137929"}
subset: orphanet_rare {source="Orphanet:137929"}
subset: rare
xref: GARD:19892 {source="MONDO:GARD"}
xref: MEDGEN:1665998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137929 {source="MONDO:equivalentTo"}
xref: UMLS:C4749374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1665998"}
is_a: MONDO:0005071 {source="Orphanet:137929"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0015316
name: congenital laryngeal palsy
def: "Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months." [Orphanet:137932]
subset: gard_rare {source="GARD:12713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137932"}
subset: ordo_malformation_syndrome {source="Orphanet:137932"}
subset: orphanet_rare {source="Orphanet:137932"}
subset: rare
synonym: "congenital vocal cord paralysis" EXACT [Orphanet:137932]
xref: GARD:12713 {source="MONDO:GARD"}
xref: ICD10CM:J38.0 {source="Orphanet:137932/ntbt", source="Orphanet:137932"}
xref: MEDGEN:96003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137932 {source="MONDO:equivalentTo"}
xref: UMLS:C0396058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96003"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder
is_a: MONDO:0005071 {source="Orphanet:137932"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy" xsd:anyURI {source="GARD:0012713"}

[Term]
id: MONDO:0015317
name: laryngotracheal angioma
subset: gard_rare {source="GARD:19893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:137935"}
subset: orphanet_rare {source="Orphanet:137935"}
subset: rare
xref: GARD:19893 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:137935", source="Orphanet:137935/ntbt"}
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:825419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:137935 {source="MONDO:equivalentTo"}
xref: SCTID:703199001 {source="MONDO:equivalentTo"}
xref: UMLS:C3839574 {source="MONDO:equivalentTo", source="MEDGEN:825419", source="MONDO:MEDGEN"}
is_a: MONDO:0016223 {source="Orphanet:137935"} ! infantile hemangioma of rare localization
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015318
name: obsolete Pierre Robin syndrome associated with collagen disease
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
is_obsolete: true
consider: MONDO:0018187

[Term]
id: MONDO:0015319
name: obsolete rare disease with Pierre Robin syndrome
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:138044"}
xref: GARD:19895 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:138044 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015320
name: obsolete Pierre Robin syndrome associated with a chromosomal anomaly
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
is_obsolete: true
consider: MONDO:0018187

[Term]
id: MONDO:0015321
name: obsolete Pierre Robin syndrome associated with branchial archs anomalies
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
is_obsolete: true
consider: MONDO:0018187

[Term]
id: MONDO:0015322
name: obsolete Pierre Robin syndrome associated with bone disease
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
is_obsolete: true
consider: MONDO:0018187

[Term]
id: MONDO:0015323
name: obsolete teratogenic Pierre Robin syndrome
subset: ordo_group_of_disorders {source="Orphanet:138059"}
synonym: "teratogenic Pierre Robin sequence" EXACT [Orphanet:138059]
xref: GARD:19899 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:138059 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015324
name: cataract-intellectual disability-anal atresia-urinary defects syndrome
def: "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." [Orphanet:1381]
subset: gard_rare {source="GARD:192", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1381"}
subset: ordo_malformation_syndrome {source="Orphanet:1381"}
subset: orphanet_rare {source="Orphanet:1381"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract intellectual disability anal atresia urinary defects" RELATED [GARD:0000192]
synonym: "cataract mental retardation anal atresia urinary defects" RELATED DEPRECATED [GARD:0000192]
synonym: "congenital cataract with multiple congenital anomalies in a sibship" RELATED [GARD:0000192]
synonym: "Karandikar Maria Kamble syndrome" RELATED [GARD:0000192]
synonym: "Karandikar-Maria-Kamble syndrome" EXACT [Orphanet:1381]
xref: GARD:192 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1381/attributed", source="Orphanet:1381/ntbt", source="Orphanet:1381"}
xref: MEDGEN:419068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537009 {source="MONDO:equivalentTo"}
xref: Orphanet:1381 {source="MONDO:equivalentTo"}
xref: SCTID:715989002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419068"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1381"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1381", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0015325
name: cataract-deafness-hypogonadism syndrome
def: "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." [Orphanet:1383]
subset: gard_rare {source="GARD:248", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1383"}
subset: ordo_malformation_syndrome {source="Orphanet:1383"}
subset: orphanet_rare {source="Orphanet:1383"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature" RELATED [GARD:0000248]
synonym: "Schaap-Taylor-Baraitser syndrome" EXACT [GARD:0000248, Orphanet:1383]
xref: GARD:248 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1383/attributed", source="Orphanet:1383/ntbt", source="Orphanet:1383"}
xref: MEDGEN:419760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536626 {source="MONDO:equivalentTo"}
xref: Orphanet:1383 {source="MONDO:equivalentTo"}
xref: SCTID:722378009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419760"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1383"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1383", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4324" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015326
name: night blindness-skeletal anomalies-dysmorphism syndrome
def: "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." [Orphanet:1390]
subset: gard_rare {source="GARD:3994", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1390"}
subset: ordo_malformation_syndrome {source="Orphanet:1390"}
subset: orphanet_rare {source="Orphanet:1390"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hunter Thompson Reed syndrome" RELATED [GARD:0003994]
synonym: "Hunter-Thompson-Reed syndrome" EXACT [Orphanet:1390]
xref: GARD:3994 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1390", source="Orphanet:1390/attributed", source="Orphanet:1390/ntbt"}
xref: MEDGEN:1814437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1390 {source="MONDO:equivalentTo"}
xref: UMLS:C5679607 {source="MEDGEN:1814437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:1390"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1390", source="Orphanet:1390/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3994/night-blindness-skeletal-anomalies-dysmorphism-syndrome" xsd:anyURI {source="GARD:0003994"}

[Term]
id: MONDO:0015327
name: developmental anomaly of metabolic origin
subset: disease_grouping
subset: gard_rare {source="GARD:19900", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:139009"}
subset: rare
xref: GARD:19900 {source="MONDO:GARD"}
xref: MEDGEN:1826093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139009 {source="MONDO:equivalentTo"}
xref: UMLS:C5680623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826093"}
is_a: MONDO:0019755 {source="MONDO:Redundant", source="Orphanet:139009"} ! developmental defect during embryogenesis
intersection_of: MONDO:0019755 ! developmental defect during embryogenesis
intersection_of: disease_has_basis_in_disruption_of GO:0008152 ! metabolic process
relationship: excluded_subClassOf MONDO:0015960 {source="Orphanet:139009", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic developmental defect during embryogenesis

[Term]
id: MONDO:0015328
name: obsolete rare bone development disorder
def: "OBSOLETE. Any of the forms of bone development disease that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:139012"}
synonym: "bone development disorder" EXACT [NCIT:C34432]
synonym: "rare bone development disease" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/rare]
synonym: "rare skeletal development disorder" EXACT [Orphanet:139012]
xref: GARD:19901 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C34432 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139012 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005497

[Term]
id: MONDO:0015329
name: obsolete malformation syndrome with short stature
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis'
subset: ordo_group_of_disorders {source="Orphanet:139021"}
synonym: "congenital malformation syndrome and short stature" EXACT []
synonym: "congenital malformation syndrome associated with short stature" EXACT []
synonym: "malformation syndrome associated with short stature" EXACT []
xref: GARD:19902 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139021 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:205808005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019755

[Term]
id: MONDO:0015330
name: obsolete overgrowth/obesity syndrome
subset: ordo_group_of_disorders {source="Orphanet:139024"}
xref: GARD:19903 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139024 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015331
name: obsolete malformation syndrome with skin/mucosae involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis'
subset: ordo_group_of_disorders {source="Orphanet:139027"}
xref: GARD:19904 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139027 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019755

[Term]
id: MONDO:0015332
name: obsolete rare developmental defect with connective tissue involvement
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:139030"}
xref: GARD:19905 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139030 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015333
name: progeroid syndrome
def: "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are." [Wikipedia:Progeroid_syndromes]
subset: disease_grouping
subset: gard_rare {source="GARD:19906", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:139033"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0081332 {source="MONDO:equivalentTo"}
xref: GARD:19906 {source="MONDO:GARD"}
xref: NANDO:2100221 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:139033 {source="MONDO:equivalentTo"}
is_a: MONDO:0019303 {source="https://orcid.org/0000-0002-6601-2165"} ! premature aging syndrome
is_a: MONDO:0019755 {source="Orphanet:139033"} ! developmental defect during embryogenesis
relationship: disease_disrupts GO:0010259 ! obsolete multicellular organism aging

[Term]
id: MONDO:0015334
name: obsolete branchial arch or oral-acral syndrome
subset: ordo_group_of_disorders {source="Orphanet:139036"}
xref: GARD:19907 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139036 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015335
name: obsolete Mendelian syndromes with cleft lip/palate
subset: ordo_group_of_disorders {source="Orphanet:139039"}
synonym: "orofacial clefting syndrome" EXACT [Orphanet:139039]
xref: GARD:19908 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139039 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:139039", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5665" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6162" xsd:anyURI
is_obsolete: true
consider: MONDO:0003847

[Term]
id: MONDO:0015336
name: obsolete malformation syndrome with odontal and/or periodontal component
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis'
subset: ordo_group_of_disorders {source="Orphanet:139042"}
xref: GARD:19909 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:139042 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019755

[Term]
id: MONDO:0015337
name: isolated craniosynostosis
def: "A craniosynostosis that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:139390"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nonsyndromic craniosynostosis" EXACT [MONDO:patterns/isolated]
xref: ICD10CM:Q75.0 {source="Orphanet:139390/attributed", source="Orphanet:139390/ntbt", source="Orphanet:139390"}
xref: NANDO:2200843 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:139390 {source="MONDO:equivalentTo"}
is_a: MONDO:0015469 {source="MONDO:Redundant", source="Orphanet:139390"} ! craniosynostosis
intersection_of: MONDO:0015469 ! craniosynostosis
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015338
name: syndromic craniosynostosis
def: "A craniosynostosis that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: disease_grouping
subset: gard_rare {source="GARD:19911", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:139393"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "syndrome associated with craniosynostosis" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic craniosynostosis" EXACT [MONDO:patterns/syndromic]
xref: GARD:19911 {source="MONDO:GARD"}
xref: MEDGEN:1842203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139393 {source="MONDO:equivalentTo"}
xref: UMLS:C5680624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842203"}
is_a: MONDO:0015469 {source="MONDO:Redundant", source="Orphanet:139393"} ! craniosynostosis
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
intersection_of: MONDO:0015469 ! craniosynostosis
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0015339
name: adrenomyeloneuropathy
def: "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN." [Orphanet:139399]
subset: gard_rare {source="GARD:10614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:139399"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenomyeloneuropathy" EXACT CLINGEN_LABEL [Orphanet:139399]
synonym: "AMN" EXACT ABBREVIATION [GARD:0010614, OMIM:300100]
xref: GARD:10614 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:139399/attributed", source="Orphanet:139399/ntbt", source="Orphanet:139399"}
xref: MEDGEN:315918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200168 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201248 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:300100 {source="Orphanet:139399/ntbt", source="MONDO:includedEntryInOMIM", source="Orphanet:139399"}
xref: Orphanet:139399 {source="MONDO:equivalentTo"}
xref: SCTID:65389002 {source="MONDO:equivalentTo"}
xref: UMLS:C1527231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:315918"}
is_a: MONDO:0018544 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! adrenoleukodystrophy
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
relationship: excluded_subClassOf MONDO:0010247 {source="https://orcid.org/0000-0001-5208-3432"} ! X-linked cerebral adrenoleukodystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0015340
name: drug rash with eosinophilia and systemic symptoms
def: "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6." [Orphanet:139402]
subset: gard_rare {source="GARD:13629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139402"}
subset: orphanet_rare {source="Orphanet:139402"}
subset: rare
synonym: "DHS" EXACT ABBREVIATION [NCIT:C112208]
synonym: "dress" EXACT [NCIT:C112208]
synonym: "DRESS syndrome" EXACT [Orphanet:139402]
synonym: "Drug hypersensitivity syndrome" EXACT [NCIT:C112208]
synonym: "drug reaction eosinophilic systemic syndrome" EXACT [Orphanet:139402]
synonym: "Drug reaction with eosinophilia and Systemic symptoms" EXACT [NCIT:C112208]
xref: GARD:13629 {source="MONDO:GARD"}
xref: icd11.foundation:516577496 {source="Orphanet:139402", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10058919 {source="Orphanet:139402", source="Orphanet:139402/e"}
xref: MEDGEN:762193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D063926 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C112208 {source="MONDO:equivalentTo"}
xref: Orphanet:139402 {source="MONDO:equivalentTo"}
xref: SCTID:702809001 {source="MONDO:equivalentTo"}
xref: UMLS:C3541994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762193"}
is_a: MONDO:0002254 {source="NCIT:C112208"} ! syndromic disease
is_a: MONDO:0005492 {source="Orphanet:139402"} ! urticaria
is_a: MONDO:0005594 {source="PMID:29445753"} ! severe cutaneous adverse reaction
is_a: MONDO:0017396 {source="Orphanet:139402"} ! toxic dermatosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019298"} ! rare
relationship: realized_in_response_to ECTO:0000509 ! exposure to drug
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7182" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7258" xsd:anyURI

[Term]
id: MONDO:0015341
name: congenital panfollicular nevus
def: "Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed." [Orphanet:139414]
subset: gard_rare {source="GARD:19912", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139414"}
subset: orphanet_rare {source="Orphanet:139414"}
subset: rare
synonym: "congenital panfollicular nevus" EXACT [MONDO:ambiguous]
synonym: "congenital panfollicular nevus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19912 {source="MONDO:GARD"}
xref: HP:0025471 {source="MONDO:otherHierarchy"}
xref: MEDGEN:1381094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139414 {source="MONDO:equivalentTo"}
xref: UMLS:C4476799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381094"}
is_a: MONDO:0005073 {source="Orphanet:139414"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000589 "congenital panfollicular nevus (disease)" xsd:string

[Term]
id: MONDO:0015342
name: acute transverse myelitis
def: "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM)." [Orphanet:139417]
subset: gard_rare {source="GARD:19913", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139417"}
subset: orphanet_rare {source="Orphanet:139417"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19913 {source="MONDO:GARD"}
xref: ICD10CM:G37.3 {source="Orphanet:139417/ntbt", source="Orphanet:139417"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:341.20 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:82847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009188 {source="MONDO:equivalentTo"}
xref: NCIT:C128378 {source="MONDO:equivalentTo"}
xref: Orphanet:139417 {source="MONDO:equivalentTo"}
xref: SCTID:47000000 {source="MONDO:equivalentTo"}
xref: UMLS:C0270627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82847"}
is_a: MONDO:0002565 {source="MESH:D009188", source="NCIT:C128378"} ! myelitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015343
name: obsolete secondary acute transverse myelitis
def: "OBSOLETE. Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." [Orphanet:139420]
synonym: "disease-associated transverse myelitis" EXACT [Orphanet:139420]
xref: ICD10CM:G37.3 {source="Orphanet:139420/ntbt", source="Orphanet:139420"}
xref: Orphanet:139420 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6934" xsd:anyURI
is_obsolete: true
consider: MONDO:0015342

[Term]
id: MONDO:0015344
name: idiopathic acute transverse myelitis
def: "Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement." [Orphanet:139423]
subset: gard_rare {source="GARD:19914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:139423"}
subset: rare
synonym: "ATM/TM" EXACT [Orphanet:139423]
xref: GARD:19914 {source="MONDO:GARD"}
xref: ICD10CM:G37.3 {source="Orphanet:139423", source="Orphanet:139423/ntbt"}
xref: Orphanet:139423 {source="MONDO:equivalentTo"}
is_a: MONDO:0015342 {source="Orphanet:139423"} ! acute transverse myelitis
intersection_of: MONDO:0015342 ! acute transverse myelitis
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015345
name: perioral myoclonia with absences
def: "Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome." [Orphanet:139426]
subset: gard_rare {source="GARD:19915", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139426"}
subset: orphanet_rare {source="Orphanet:139426"}
subset: rare
synonym: "POMA" EXACT ABBREVIATION [Orphanet:139426]
xref: GARD:19915 {source="MONDO:GARD"}
xref: MEDGEN:1637328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139426 {source="MONDO:equivalentTo"}
xref: SCTID:766815007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637328"}
is_a: MONDO:0020072 {source="Orphanet:139426"} ! childhood-onset epilepsy syndrome

[Term]
id: MONDO:0015346
name: Jeavons syndrome
def: "Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures." [Orphanet:139431]
subset: gard_rare {source="GARD:19916", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:152960"}
subset: ordo_disorder {source="Orphanet:139431"}
subset: orphanet_rare {source="Orphanet:139431"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EMEA" EXACT ABBREVIATION [Orphanet:139431]
synonym: "Epilepsy with Eyelid Myoclonia" EXACT [NORD:152960]
synonym: "epilepsy with eyelid myoclonias" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/emwa-overview.html]
synonym: "eyelid myoclonia with and without absences" EXACT [Orphanet:139431]
xref: GARD:19916 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:139431/ntbt", source="Orphanet:139431"}
xref: MedDRA:10084303
xref: MEDGEN:901966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:152960 {source="MONDO:NORD"}
xref: Orphanet:139431 {source="MONDO:equivalentTo"}
xref: SCTID:716278005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274731 {source="MEDGEN:901966", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020072 {source="Orphanet:139431"} ! childhood-onset epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4614" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/emwa-overview.html" xsd:anyURI

[Term]
id: MONDO:0015347
name: multicentric reticulohistiocytosis
def: "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis." [Orphanet:139436]
subset: gard_rare {source="GARD:7103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139436"}
subset: orphanet_rare {source="Orphanet:139436"}
subset: rare
synonym: "giant cell histiocytomatosis" EXACT [Orphanet:139436]
synonym: "lipoid dermatoarthritis" EXACT [DOID:11824, Orphanet:139436]
synonym: "multicentric reticulohistiocytosis" EXACT [DOID:11824]
xref: DOID:11824 {source="MONDO:equivalentTo"}
xref: GARD:7103 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:139436/ntbt", source="Orphanet:139436"}
xref: ICD10CM:E78.81 {source="DOID:11824"}
xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:713.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10070595 {source="Orphanet:139436", source="Orphanet:139436/e"}
xref: MEDGEN:86315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27896 {source="DOID:11824", source="MONDO:equivalentTo"}
xref: Orphanet:139436 {source="DOID:11824", source="MONDO:equivalentTo"}
xref: SCTID:190801003 {source="DOID:11824"}
xref: SCTID:84241008 {source="DOID:11824", source="MONDO:equivalentTo"}
xref: UMLS:C0311284 {source="MEDGEN:86315", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:11824"} ! syndromic disease
is_a: MONDO:0015531 {source="Orphanet:139436"} ! non-Langerhans cell histiocytosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis" xsd:anyURI {source="GARD:0007103"}

[Term]
id: MONDO:0015348
name: leukoencephalopathy with bilateral anterior temporal lobe cysts
def: "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested." [Orphanet:139444]
subset: gard_rare {source="GARD:19917", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139444"}
subset: orphanet_rare {source="Orphanet:139444"}
subset: rare
xref: GARD:19917 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:139444/attributed", source="Orphanet:139444/ntbt", source="Orphanet:139444"}
xref: MEDGEN:930413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139444 {source="MONDO:equivalentTo"}
xref: UMLS:C4304744 {source="MEDGEN:930413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="Orphanet:139444"} ! leukodystrophy

[Term]
id: MONDO:0015349
name: progressive cavitating leukoencephalopathy
def: "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability." [Orphanet:139447]
subset: gard_rare {source="GARD:19918", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139447"}
subset: orphanet_rare {source="Orphanet:139447"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19918 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:139447/attributed", source="Orphanet:139447/ntbt", source="Orphanet:139447"}
xref: MEDGEN:930509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139447 {source="MONDO:equivalentTo"}
xref: SCTID:719267003 {source="MONDO:equivalentTo"}
xref: UMLS:C4304840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930509"}
is_a: MONDO:0019046 {source="Orphanet:139447"} ! leukodystrophy

[Term]
id: MONDO:0015350
name: 17q11.2 microduplication syndrome
def: "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." [Orphanet:139474]
subset: gard_rare {source="GARD:16952", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139474"}
subset: ordo_malformation_syndrome {source="Orphanet:139474"}
subset: orphanet_rare {source="Orphanet:139474"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 17q11.2 duplication syndrome, 1.4-mb" EXACT [MONDO:0030032, OMIM:618874]
synonym: "dup(17)(q11.2)" EXACT [Orphanet:139474]
synonym: "Grisart-Destree syndrome" EXACT [Orphanet:139474]
synonym: "Grisart-Destrée syndrome" EXACT [Orphanet:139474]
synonym: "Nf1 Microduplication Syndrome" EXACT [OMIM:618874]
synonym: "trisomy 17q11.2" EXACT [Orphanet:139474]
xref: GARD:16952 {source="MONDO:GARD"}
xref: MEDGEN:501218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618874 {source="MONDO:equivalentTo"}
xref: Orphanet:139474 {source="MONDO:equivalentTo"}
xref: SCTID:719583002 {source="MONDO:equivalentTo"}
xref: UMLS:C3495679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501218"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016967 {source="Orphanet:139474"} ! partial duplication of the long arm of chromosome 17
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr17q11.2 ! 17q11.2 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:139474", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4337" xsd:anyURI

[Term]
id: MONDO:0015351
name: neuropathy with hearing impairment
def: "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." [Orphanet:139512]
subset: gard_rare {source="GARD:19919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139512"}
subset: orphanet_rare {source="Orphanet:139512"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19919 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:139512", source="Orphanet:139512/attributed", source="Orphanet:139512/ntbt"}
xref: icd11.foundation:129297527 {source="Orphanet:139512", source="MONDO:equivalentTo"}
xref: MEDGEN:1375726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139512 {source="MONDO:equivalentTo"}
xref: SCTID:723497003 {source="MONDO:equivalentTo"}
xref: UMLS:C4509933 {source="MEDGEN:1375726", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0005244 {source="https://orcid.org/0000-0002-4142-7153"} ! peripheral neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015352
name: distal hereditary motor neuropathy type 2
subset: gard_rare {source="GARD:16954", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139525"}
subset: orphanet_rare {source="Orphanet:139525"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dHMN2" EXACT [Orphanet:139525]
synonym: "distal spinal muscular atrophy type 2" EXACT [Orphanet:139525]
synonym: "dSMA2" EXACT [Orphanet:139525]
xref: DOID:0111206 {source="MONDO:equivalentTo"}
xref: GARD:16954 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:139525", source="Orphanet:139525/attributed", source="Orphanet:139525/ntbt"}
xref: MEDGEN:777992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580044 {source="MONDO:equivalentTo"}
xref: Orphanet:139525 {source="MONDO:equivalentTo"}
xref: UMLS:C3711384 {source="MEDGEN:777992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015362 {source="Orphanet:139525"} ! neuronopathy, distal hereditary motor, autosomal dominant

[Term]
id: MONDO:0015353
name: neuronopathy, distal hereditary motor, type 5A
subset: gard_rare {source="GARD:18266", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dHMN 5A" EXACT [OMIM:600794]
synonym: "dHMN5" BROAD [Orphanet:139536]
synonym: "distal hereditary motor neuropathy type V" BROAD [Orphanet:139536]
synonym: "distal HMN V" BROAD [Orphanet:139536]
synonym: "distal spinal muscular atrophy type 5" BROAD [Orphanet:139536]
synonym: "HMN 5A" EXACT [OMIM:600794]
synonym: "HMN5A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600794]
synonym: "neuronopathy, distal hereditary motor, type 5" BROAD [OMIM:600794]
synonym: "neuronopathy, distal hereditary motor, type 5A" EXACT [MONDO:0010935]
synonym: "neuronopathy, distal hereditary motor, type VA" EXACT [MONDO:Lexical, OMIM:600794]
synonym: "neuropathy, distal hereditary motor, type 5A" EXACT [OMIM:600794]
synonym: "spinal muscular atrophy, distal, type 5" BROAD [OMIM:600794]
synonym: "spinal muscular atrophy, distal, type 5A" EXACT [OMIM:600794]
synonym: "spinal muscular atrophy, distal, with upper limb predominance" EXACT [OMIM:600794]
xref: DOID:0111204 {source="MONDO:equivalentTo"}
xref: GARD:18266 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:139536", source="Orphanet:139536/attributed", source="Orphanet:139536/ntbt"}
xref: MEDGEN:1723540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600794 {source="Orphanet:139536", source="Orphanet:139536/btnt", source="MONDO:equivalentTo"}
xref: Orphanet:139536 {source="OMIM:600794"}
xref: UMLS:C5399969 {source="MEDGEN:1723540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015362 {source="Orphanet:139536"} ! neuronopathy, distal hereditary motor, autosomal dominant
is_a: MONDO:0100350 {source="DC-OMIM:600794"} ! neuronopathy, distal hereditary motor, type 5
intersection_of: MONDO:0100350 ! neuronopathy, distal hereditary motor, type 5
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4162 ! GARS1

[Term]
id: MONDO:0015354
name: hereditary sensory and autonomic neuropathy with deafness and global delay
def: "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay." [Orphanet:139573]
subset: gard_rare {source="GARD:19920", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139573"}
subset: orphanet_rare {source="Orphanet:139573"}
subset: rare
synonym: "HSAN with deafness and global delay" EXACT [Orphanet:139573]
xref: GARD:19920 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:139573/attributed", source="Orphanet:139573/ntbt", source="Orphanet:139573"}
xref: MEDGEN:929235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139573 {source="MONDO:equivalentTo"}
xref: SCTID:717826009 {source="MONDO:equivalentTo"}
xref: UMLS:C4303566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929235"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015355
name: distal hereditary motor neuropathy type 7
def: "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness." [Orphanet:139589]
subset: gard_rare {source="GARD:16960", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139589"}
subset: orphanet_rare {source="Orphanet:139589"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dHMN7" EXACT [Orphanet:139589]
synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [Orphanet:139589]
xref: DOID:0111199 {source="MONDO:equivalentTo"}
xref: GARD:16960 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:139589", source="Orphanet:139589/attributed", source="Orphanet:139589/ntbt"}
xref: MEDGEN:1662655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:139589 {source="MONDO:equivalentTo"}
xref: UMLS:C4749653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1662655"}
is_a: MONDO:0015362 {source="Orphanet:139589"} ! neuronopathy, distal hereditary motor, autosomal dominant

[Term]
id: MONDO:0015356
name: hereditary neoplastic syndrome
def: "The inherited predisposition toward getting a tumor." [NCIT:C3266]
subset: disease_grouping
subset: gard_rare {source="GARD:19921", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:140162"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
subset: rare
synonym: "cancer syndrome, hereditary" EXACT [MESH:D009386]
synonym: "cancer syndromes, hereditary" EXACT [MESH:D009386]
synonym: "familial neoplastic syndrome" EXACT [NCIT:C3266]
synonym: "familial tumor syndrome" EXACT [NCIT:C3266]
synonym: "familial tumour syndrome" EXACT OMO:0003005 []
synonym: "hereditary cancer syndrome" EXACT [MESH:D009386]
synonym: "hereditary cancer syndromes" EXACT [MESH:D009386]
synonym: "hereditary neoplastic syndrome" EXACT [MESH:D009386, MONDO:patterns/hereditary, NCIT:C3266]
synonym: "hereditary neoplastic syndromes" EXACT [MESH:D009386]
synonym: "hereditary tumor syndrome" EXACT [NCIT:C3266]
synonym: "hereditary tumour syndrome" EXACT OMO:0003005 []
synonym: "inherited cancer syndrome" EXACT [NCIT:C3266]
synonym: "inherited cancer-predisposing syndrome" EXACT [Orphanet:140162]
synonym: "neoplastic syndrome, hereditary" EXACT [MESH:D009386]
synonym: "syndrome, hereditary cancer" EXACT [MESH:D009386]
synonym: "syndrome, hereditary neoplastic" EXACT [MESH:D009386]
synonym: "syndromes, hereditary cancer" EXACT [MESH:D009386]
synonym: "syndromes, hereditary neoplastic" EXACT [MESH:D009386]
xref: GARD:19921 {source="MONDO:GARD"}
xref: MEDGEN:14326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009386 {source="MONDO:equivalentTo"}
xref: NCIT:C3266 {source="MONDO:equivalentTo"}
xref: Orphanet:140162 {source="MONDO:equivalentTo"}
xref: SCTID:699346009 {source="MONDO:equivalentTo"}
xref: UMLS:C0027672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14326"}
is_a: MONDO:0003847 {source="MESH:D009386", source="MONDO:Redundant", source="NCIT:C3266", source="Orphanet:140162"} ! hereditary disease
is_a: MONDO:0021058 {source="NCIT:C3266", source="https://orcid.org/0000-0001-5208-3432"} ! neoplastic syndrome
is_a: MONDO:0045024 ! cancer or benign tumor
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005070 ! neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0021198"} ! rare
relationship: has_characteristic MONDO:0021152 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! inherited
relationship: predisposes_towards MONDO:0005070 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5046" xsd:anyURI

[Term]
id: MONDO:0015357
name: secondary hypoparathyroidism due to impaired parathormon secretion
subset: gard_rare {source="GARD:19922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140286"}
subset: orphanet_rare {source="Orphanet:140286"}
subset: rare
xref: GARD:19922 {source="MONDO:GARD"}
xref: ICD10CM:E20.8 {source="Orphanet:140286/ntbt", source="Orphanet:140286"}
xref: icd11.foundation:1229357339 {source="Orphanet:140286", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:931097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:140286 {source="MONDO:equivalentTo"}
xref: UMLS:C4305428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:931097"}
is_a: MONDO:0001220 {source="Orphanet:140286"} ! hypoparathyroidism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015896"} ! rare

[Term]
id: MONDO:0015358
name: hereditary motor and sensory neuropathy
def: "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)" [MESH:D015417]
subset: disease_grouping
subset: gard_rare {source="GARD:12685", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HMSN" EXACT ABBREVIATION [Orphanet:140450]
xref: GARD:12685 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:140450", source="Orphanet:140450/specific", source="Orphanet:140450/e"}
xref: MEDGEN:45066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015417 {source="Orphanet:140450", source="MONDO:equivalentTo", source="Orphanet:140450/e"}
xref: NANDO:2200855 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:140450 {source="MONDO:equivalentObsolete"}
xref: SCTID:398100001 {source="MONDO:equivalentTo"}
xref: UMLS:C0027888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45066"}
is_a: MONDO:0020127 {source="Orphanet:140450"} ! hereditary peripheral neuropathy

[Term]
id: MONDO:0015359
name: obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy
subset: ordo_group_of_disorders {source="Orphanet:140453"}
synonym: "AD demyelinating HMSN" EXACT []
xref: GARD:19923 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G60.0 {source="Orphanet:140453", source="Orphanet:140453/attributed", source="Orphanet:140453/ntbt"}
xref: Orphanet:140453 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015360
name: obsolete autosomal dominant hereditary axonal motor and sensory neuropathy
subset: ordo_group_of_disorders {source="Orphanet:140456"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19924 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G60.0 {source="Orphanet:140456/attributed", source="Orphanet:140456/ntbt", source="Orphanet:140456"}
xref: Orphanet:140456 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015361
name: obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy
subset: clingen {source="MONDO:CLINGEN"}
subset: ordo_group_of_disorders {source="Orphanet:140459"}
subset: otar {source="MONDO:OTAR"}
synonym: "AR demyelinating HMSN" EXACT []
xref: GARD:19925 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G60.0 {source="Orphanet:140459/attributed", source="Orphanet:140459/ntbt", source="Orphanet:140459"}
xref: Orphanet:140459 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015362
name: neuronopathy, distal hereditary motor, autosomal dominant
def: "Autosomal dominant form of distal hereditary motor neuropathy." [MONDO:patterns/autosomal_dominant]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19926", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:140465"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant dHMN" EXACT [DOID:0111198, Orphanet:140465]
synonym: "autosomal dominant distal hereditary motor neuropathy" EXACT CLINGEN_LABEL [DOID:0111198]
synonym: "autosomal dominant distal spinal muscular atrophy" EXACT [DOID:0111198, Orphanet:140465]
synonym: "distal hereditary motor neuropathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0111198 {source="MONDO:equivalentTo"}
xref: GARD:19926 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:140465", source="Orphanet:140465/attributed", source="Orphanet:140465/ntbt"}
xref: MEDGEN:1787720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:182960 {source="MONDO:equivalentTo"}
xref: Orphanet:140465 {source="MONDO:equivalentTo", source="DOID:0111198"}
xref: UMLS:C5548212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787720"}
is_a: MONDO:0000426 {source="DOID:0111198"} ! autosomal dominant disease
is_a: MONDO:0001516 {source="DOID:0111198"} ! spinal muscular atrophy
is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:140465", source="https://orcid.org/0000-0001-5208-3432"} ! distal hereditary motor neuropathy
intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="DOID:0111198", source="MONDO:HPOA"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:182960"} ! inherited

[Term]
id: MONDO:0015363
name: neuronopathy, distal hereditary motor, autosomal recessive
def: "Autosomal recessive form of distal hereditary motor neuropathy." [MONDO:patterns/autosomal_recessive]
subset: disease_grouping
subset: gard_rare {source="GARD:19927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:140468"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive dHMN" EXACT [Orphanet:140468]
synonym: "autosomal recessive distal hereditary motor neuropathy" EXACT [Orphanet:140468]
synonym: "autosomal recessive distal spinal muscular atrophy" EXACT [Orphanet:140468]
synonym: "autosomal recessive dSMA" EXACT [Orphanet:140468]
synonym: "distal hereditary motor neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:0111197 {source="MONDO:equivalentTo"}
xref: GARD:19927 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:140468", source="Orphanet:140468/attributed", source="Orphanet:140468/ntbt"}
xref: MEDGEN:1779821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:604320 {source="MONDO:equivalentTo"}
xref: Orphanet:140468 {source="MONDO:equivalentTo"}
xref: UMLS:C5548369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779821"}
is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:140468", source="https://orcid.org/0000-0001-5208-3432"} ! distal hereditary motor neuropathy
intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604320"} ! inherited

[Term]
id: MONDO:0015364
name: hereditary sensory and autonomic neuropathy
def: "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12688", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:140471"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CIP" EXACT ABBREVIATION [NCIT:C125386]
synonym: "congenital insensitivity to pain" EXACT [DOID:0050548, NCIT:C125386]
synonym: "congenital pain insensitivity" EXACT [NCIT:C125386]
synonym: "hereditary sensory and autonomic neuropathy" EXACT [DOID:0050548, PMID:15367861]
synonym: "hereditary sensory autonomic neuropathy" RELATED [GARD:0012688]
synonym: "hereditary sensory neuropathy" EXACT [PMID:15367861]
synonym: "hereditary sensory peripheral neuropathy" EXACT [MONDO:patterns/hereditary]
synonym: "HSAN" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "indifference to pain, Congenital, autosomal recessive" EXACT [NCIT:C125386]
xref: DOID:0050548 {source="MONDO:equivalentTo"}
xref: GARD:12688 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:140471", source="Orphanet:140471/attributed", source="Orphanet:140471/ntbt"}
xref: icd11.foundation:1091217288 {source="Orphanet:140471", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:356.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:14355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009477 {source="Orphanet:140471", source="MONDO:equivalentTo", source="Orphanet:140471/e"}
xref: NCIT:C125386 {source="MONDO:equivalentTo"}
xref: OMIMPS:162400 {source="MONDO:equivalentTo"}
xref: Orphanet:140471 {source="MONDO:equivalentTo"}
xref: SCTID:11442006 {source="MONDO:equivalentTo"}
xref: UMLS:C0027889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14355"}
is_a: MONDO:0002321 {source="MONDO:Redundant"} ! sensory peripheral neuropathy
is_a: MONDO:0003847 {source="MESH:D009477/inferred", source="MONDO:Redundant", source="Orphanet:140471/inferred"} ! hereditary disease
is_a: MONDO:0020127 {source="MONDO:Redundant", source="Orphanet:140471"} ! hereditary peripheral neuropathy
intersection_of: MONDO:0002321 ! sensory peripheral neuropathy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:162400"} ! inherited
property_value: excluded_synonym "familial dysautonomia, type II" xsd:string {source="DOID:0050548"}
property_value: IAO:0000233 "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25" xsd:anyURI

[Term]
id: MONDO:0015365
name: obsolete autosomal dominant hereditary sensory and autonomic neuropathy
def: "OBSOLETE. Autosomal dominant form of hereditary sensory and autonomic neuropathy." [MONDO:patterns/autosomal_dominant]
subset: clingen {source="MONDO:CLINGEN"}
subset: ordo_group_of_disorders {source="Orphanet:140474"}
subset: otar {source="MONDO:OTAR"}
synonym: "hereditary sensory and autonomic neuropathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:19928 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G60.8 {source="Orphanet:140474", source="Orphanet:140474/attributed", source="Orphanet:140474/ntbt"}
xref: Orphanet:140474 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015366
name: obsolete autosomal recessive hereditary sensory and autonomic neuropathy
def: "OBSOLETE. Autosomal recessive form of hereditary sensory and autonomic neuropathy." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:140477"}
subset: otar {source="MONDO:OTAR"}
synonym: "hereditary sensory and autonomic neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:19929 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G60.8 {source="Orphanet:140477", source="Orphanet:140477/attributed", source="Orphanet:140477/ntbt"}
xref: Orphanet:140477 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015367
name: Charlie M syndrome
def: "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976." [Orphanet:1406]
subset: gard_rare {source="GARD:1261", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1406"}
subset: ordo_malformation_syndrome {source="Orphanet:1406"}
subset: orphanet_rare {source="Orphanet:1406"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:1261 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1406", source="Orphanet:1406/attributed", source="Orphanet:1406/ntbt"}
xref: MEDGEN:1379887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1406 {source="MONDO:equivalentTo"}
xref: SCTID:733034007 {source="MONDO:equivalentTo"}
xref: UMLS:C4518555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379887"}
is_a: MONDO:0015161 {source="Orphanet:1406"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0017139 {source="Orphanet:1406"} ! oromandibular-limb hypogenesis syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome" xsd:anyURI {source="GARD:0001261"}

[Term]
id: MONDO:0015368
name: obsolete neuro-ophthalmological disease
subset: ordo_group_of_disorders {source="Orphanet:140653"}
xref: GARD:19930 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:140653 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183616 {source="MONDO:mondoIsBroaderThanSource"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015369
name: Joubert syndrome and related disorders
def: "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." [Orphanet:140874]
subset: disease_grouping
subset: gard_rare {source="GARD:19931", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:140874"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Joubert syndrome and related disorders" EXACT CLINGEN_LABEL []
synonym: "JSRD" EXACT ABBREVIATION [Orphanet:140874]
xref: GARD:19931 {source="MONDO:GARD"}
xref: MEDGEN:1826007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200661 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100218 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200824 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:140874 {source="MONDO:equivalentTo"}
xref: UMLS:C5679612 {source="MEDGEN:1826007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020043 {source="Orphanet:140874"} ! autosomal recessive congenital cerebellar ataxia

[Term]
id: MONDO:0015371
name: linear atrophoderma of Moulin
def: "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene." [Orphanet:140933]
subset: gard_rare {source="GARD:19932", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140933"}
subset: orphanet_rare {source="Orphanet:140933"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19932 {source="MONDO:GARD"}
xref: ICD10CM:L90.8 {source="Orphanet:140933/attributed", source="Orphanet:140933/ntbt", source="Orphanet:140933"}
xref: MEDGEN:698076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:140933 {source="MONDO:equivalentTo"}
xref: SCTID:403395007 {source="MONDO:equivalentTo"}
xref: UMLS:C1274753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:698076"}
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0021154 {source="Orphanet:140933"} ! dermis disorder

[Term]
id: MONDO:0015372
name: autosomal dominant macrothrombocytopenia
def: "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." [Orphanet:140957]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16965", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140957"}
subset: orphanet_rare {source="Orphanet:140957"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16965 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="Orphanet:140957", source="Orphanet:140957/attributed", source="Orphanet:140957/ntbt"}
xref: MEDGEN:929690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:140957 {source="MONDO:equivalentTo"}
xref: SCTID:720521008 {source="MONDO:equivalentTo"}
xref: UMLS:C4304021 {source="MEDGEN:929690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0100241 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited thrombocytopenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015373
name: obsolete Saldino-Mainzer syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1624" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009964

[Term]
id: MONDO:0015374
name: primary central nervous system vasculitis
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:8703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:140989"}
subset: orphanet_rare {source="Orphanet:140989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "granulomatous angiitis of the central nervous system" RELATED [GARD:0008703]
synonym: "isolated angiitis of the central nervous system" EXACT [Orphanet:140989]
synonym: "PACNS" EXACT ABBREVIATION [GARD:0008703, Orphanet:140989]
synonym: "PCNSV" EXACT ABBREVIATION [Orphanet:140989]
synonym: "primary angiitis of the central nervous system" EXACT [Orphanet:140989]
synonym: "primary central nervous system vasculitis" EXACT [GARD:0008703]
synonym: "primary CNS vasculitis" RELATED [GARD:0008703]
synonym: "primary vasculitis of the central nervous system" EXACT [Orphanet:140989]
xref: GARD:8703 {source="MONDO:GARD"}
xref: ICD10CM:I67.7 {source="Orphanet:140989/attributed", source="Orphanet:140989/ntbt", source="Orphanet:140989"}
xref: MEDGEN:419271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535276 {source="Orphanet:140989/e", source="Orphanet:140989"}
xref: MESH:C537295 {source="MONDO:equivalentTo"}
xref: MESH:D020293 {source="MONDO:relatedTo", source="Orphanet:140989/e", source="Orphanet:140989"}
xref: Orphanet:140989 {source="GARD:0008703", source="MONDO:equivalentTo"}
xref: UMLS:C2930862 {source="MEDGEN:419271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003346 {source="PMID: 4491822", source="https://orcid.org/0009-0001-6494-4831"} ! central nervous system vasculitis
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0018882 {source="https://orcid.org/0000-0002-3458-4839"} ! vasculitis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system" xsd:anyURI {source="GARD:0008703"}

[Term]
id: MONDO:0015375
name: orofaciodigital syndrome
def: "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait." [MESH:D009958]
subset: disease_grouping
subset: gard_rare {source="GARD:10692", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1529", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:140997"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OFD" EXACT ABBREVIATION [Orphanet:140997]
synonym: "oral facial digital syndromes" RELATED [GARD:0010692]
synonym: "Oral-Facial-Digital Syndrome" EXACT [NORD:1529]
synonym: "oral-facial-digital syndrome" EXACT [Orphanet:140997]
synonym: "oral-facial-digital syndromes" RELATED [GARD:0010692]
synonym: "orofaciodigital syndrome" EXACT [MONDO:0003020]
synonym: "orofaciodigital syndromes" RELATED [GARD:0010692]
xref: DOID:4501 {source="MONDO:equivalentTo"}
xref: GARD:10692 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:140997/inclusion", source="Orphanet:140997/ntbt", source="Orphanet:140997"}
xref: icd11.foundation:1405407847 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:140997"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:14518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009958 {source="DOID:4501", source="MONDO:equivalentTo"}
xref: NANDO:1201051 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1529 {source="MONDO:NORD"}
xref: OMIMPS:311200 {source="MONDO:equivalentTo"}
xref: Orphanet:140997 {source="MONDO:equivalentTo"}
xref: SCTID:52868006 {source="MONDO:equivalentTo"}
xref: UMLS:C0029294 {source="MEDGEN:14518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015498 {source="Orphanet:140997"} ! oromandibular-limb anomalies syndrome
relationship: disease_has_feature HP:0000113 ! Polycystic kidney dysplasia
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:140997", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:311200"} ! inherited

[Term]
id: MONDO:0015376
name: first branchial cleft anomaly
subset: gard_rare {source="GARD:19934", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141013"}
subset: ordo_morphological_anomaly {source="Orphanet:141013"}
subset: orphanet_rare {source="Orphanet:141013"}
subset: rare
synonym: "first branchial cleft cyst" EXACT [Orphanet:141013]
synonym: "first branchial cleft fistula" EXACT [Orphanet:141013]
xref: GARD:19934 {source="MONDO:GARD"}
xref: ICD10CM:Q18.0 {source="Orphanet:141013", source="Orphanet:141013/ntbt"}
xref: MEDGEN:848144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141013 {source="MONDO:equivalentTo"}
xref: SCTID:73371000119103 {source="MONDO:equivalentTo"}
xref: UMLS:C3874320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:848144"}
is_a: MONDO:0015476 {source="Orphanet:141013"} ! cysts and fistulae of the face and oral cavity

[Term]
id: MONDO:0015377
name: third branchial cleft anomaly
subset: gard_rare {source="GARD:19935", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141030"}
subset: ordo_morphological_anomaly {source="Orphanet:141030"}
subset: orphanet_rare {source="Orphanet:141030"}
subset: rare
synonym: "third branchial cleft cyst" EXACT [Orphanet:141030]
synonym: "third branchial cleft fistula" EXACT [Orphanet:141030]
xref: GARD:19935 {source="MONDO:GARD"}
xref: ICD10CM:Q18.0 {source="Orphanet:141030", source="Orphanet:141030/ntbt"}
xref: MEDGEN:850398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141030 {source="MONDO:equivalentTo"}
xref: SCTID:73391000119102 {source="MONDO:equivalentTo"}
xref: UMLS:C3874314 {source="MEDGEN:850398", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015476 {source="Orphanet:141030"} ! cysts and fistulae of the face and oral cavity

[Term]
id: MONDO:0015378
name: fourth branchial cleft anomaly
subset: gard_rare {source="GARD:19936", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141037"}
subset: ordo_morphological_anomaly {source="Orphanet:141037"}
subset: orphanet_rare {source="Orphanet:141037"}
subset: rare
synonym: "fourth branchial cleft cyst" EXACT [Orphanet:141037]
synonym: "fourth branchial cleft fistula" EXACT [Orphanet:141037]
xref: GARD:19936 {source="MONDO:GARD"}
xref: ICD10CM:Q18.0 {source="Orphanet:141037", source="Orphanet:141037/ntbt"}
xref: MEDGEN:837698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141037 {source="MONDO:equivalentTo"}
xref: SCTID:707234001 {source="MONDO:equivalentTo"}
xref: UMLS:C3873490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:837698"}
is_a: MONDO:0015476 {source="Orphanet:141037"} ! cysts and fistulae of the face and oral cavity

[Term]
id: MONDO:0015379
name: cervical dermoid cyst
def: "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia." [Orphanet:141046]
subset: gard_rare {source="GARD:19937", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141046"}
subset: ordo_morphological_anomaly {source="Orphanet:141046"}
subset: orphanet_rare {source="Orphanet:141046"}
subset: rare
synonym: "dermoid cyst of the neck" EXACT [Orphanet:141046]
xref: GARD:19937 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141046", source="Orphanet:141046/ntbt"}
xref: MEDGEN:1643725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141046 {source="MONDO:equivalentTo"}
xref: SCTID:763129001 {source="MONDO:equivalentTo"}
xref: UMLS:C4706299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643725"}
is_a: MONDO:0015476 {source="Orphanet:141046"} ! cysts and fistulae of the face and oral cavity
intersection_of: MONDO:0002378 ! dermoid cyst
intersection_of: disease_has_location UBERON:0000974 ! neck

[Term]
id: MONDO:0015380
name: facial dermoid cyst
def: "Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area." [Orphanet:141051]
subset: gard_rare {source="GARD:19938", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141051"}
subset: ordo_morphological_anomaly {source="Orphanet:141051"}
subset: orphanet_rare {source="Orphanet:141051"}
subset: rare
synonym: "dermoid cyst of the face" EXACT [Orphanet:141051]
xref: GARD:19938 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141051", source="Orphanet:141051/ntbt"}
xref: MEDGEN:1646552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141051 {source="MONDO:equivalentTo"}
xref: SCTID:763220008 {source="MONDO:equivalentTo"}
xref: UMLS:C4706321 {source="MEDGEN:1646552", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015476 {source="Orphanet:141051"} ! cysts and fistulae of the face and oral cavity
intersection_of: MONDO:0002378 ! dermoid cyst
intersection_of: disease_has_location UBERON:0001456 ! face

[Term]
id: MONDO:0015381
name: commissural lip fistula
def: "A cysts and fistulae of the face and oral cavity that involves the labial commissure." [MONDO:design_pattern]
subset: gard_rare {source="GARD:19939", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141061"}
subset: ordo_morphological_anomaly {source="Orphanet:141061"}
subset: orphanet_rare {source="Orphanet:141061"}
subset: rare
synonym: "cysts and fistulae of the face and oral cavity of labial commissure" EXACT [MONDO:design_pattern]
synonym: "labial commissure cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: GARD:19939 {source="MONDO:GARD"}
xref: ICD10CM:Q38.0 {source="Orphanet:141061/ntbt", source="Orphanet:141061"}
xref: MEDGEN:1809431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141061 {source="MONDO:equivalentTo"}
xref: UMLS:C5680634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809431"}
is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141061"} ! cysts and fistulae of the face and oral cavity
intersection_of: MONDO:0015476 ! cysts and fistulae of the face and oral cavity
intersection_of: disease_has_location UBERON:1000011 ! labial commissure

[Term]
id: MONDO:0015382
name: lower lip fistula
def: "A cysts and fistulae of the face and oral cavity that involves the lower lip." [MONDO:design_pattern]
subset: gard_rare {source="GARD:19940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141064"}
subset: ordo_morphological_anomaly {source="Orphanet:141064"}
subset: orphanet_rare {source="Orphanet:141064"}
subset: rare
synonym: "cysts and fistulae of the face and oral cavity of lower lip" EXACT [MONDO:design_pattern]
synonym: "lower lip cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: GARD:19940 {source="MONDO:GARD"}
xref: ICD10CM:Q38.0 {source="Orphanet:141064/ntbt", source="Orphanet:141064"}
xref: MEDGEN:698113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141064 {source="MONDO:equivalentTo"}
xref: UMLS:C1274792 {source="MEDGEN:698113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141064"} ! cysts and fistulae of the face and oral cavity
intersection_of: MONDO:0015476 ! cysts and fistulae of the face and oral cavity
intersection_of: disease_has_location UBERON:0001835 ! lower lip

[Term]
id: MONDO:0015383
name: cervicofacial fibrochondroma
subset: gard_rare {source="GARD:19941", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141067"}
subset: ordo_morphological_anomaly {source="Orphanet:141067"}
subset: orphanet_rare {source="Orphanet:141067"}
subset: rare
synonym: "cervicofacial enchondroma" EXACT [Orphanet:141067]
xref: GARD:19941 {source="MONDO:GARD"}
xref: MEDGEN:1684766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141067 {source="MONDO:equivalentTo"}
xref: UMLS:C5231314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684766"}
is_a: MONDO:0015476 {source="Orphanet:141067"} ! cysts and fistulae of the face and oral cavity

[Term]
id: MONDO:0015384
name: digestive duplication cyst of the tongue
def: "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus." [Orphanet:141071]
subset: gard_rare {source="GARD:19942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141071"}
subset: ordo_morphological_anomaly {source="Orphanet:141071"}
subset: orphanet_rare {source="Orphanet:141071"}
subset: rare
synonym: "cysts and fistulae of the face and oral cavity of tongue" EXACT [MONDO:design_pattern]
synonym: "enteric duplication cyst of the tongue" EXACT [Orphanet:141071]
synonym: "foregut duplication cyst of the tongue" EXACT [Orphanet:141071]
synonym: "gastric duplication cyst of the tongue" EXACT [Orphanet:141071]
synonym: "tongue cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: GARD:19942 {source="MONDO:GARD"}
xref: ICD10CM:Q38.3 {source="Orphanet:141071/ntbt", source="Orphanet:141071"}
xref: MEDGEN:1393450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141071 {source="MONDO:equivalentTo"}
xref: UMLS:C4512051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1393450"}
is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141071"} ! cysts and fistulae of the face and oral cavity
intersection_of: MONDO:0015476 ! cysts and fistulae of the face and oral cavity
intersection_of: disease_has_location UBERON:0001723 ! tongue

[Term]
id: MONDO:0015385
name: obsolete external auditory canal aplasia/hypoplasia
subset: ordo_disorder {source="Orphanet:141074"}
synonym: "external auditory canal stenosis/atresia" EXACT [Orphanet:141074]
xref: GARD:16969 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q16.1 {source="Orphanet:141074", source="Orphanet:141074/e", source="Orphanet:141074/specific"}
xref: icd11.foundation:534621578 {source="Orphanet:141074", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:141074 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015386
name: epignathus
def: "Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period." [Orphanet:141077]
subset: gard_rare {source="GARD:19943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:141077"}
subset: rare
synonym: "Epignathus" EXACT [MONDO:ambiguous]
synonym: "epignathus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "oropharyngeal teratoma" EXACT [Orphanet:141077]
xref: GARD:19943 {source="MONDO:GARD"}
xref: HP:0030767 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D37.0 {source="Orphanet:141077/ntbt", source="Orphanet:141077"}
xref: MEDGEN:540117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141077 {source="MONDO:equivalentTo"}
xref: SCTID:31248004 {source="MONDO:equivalentTo"}
xref: UMLS:C0266725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540117"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0019500 {source="Orphanet:141077"} ! extragonadal teratoma
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
property_value: IAO:0000589 "epignathus (disease)" xsd:string

[Term]
id: MONDO:0015387
name: nasolacrimal duct cyst
def: "Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females." [Orphanet:141083]
subset: gard_rare {source="GARD:19944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141083"}
subset: ordo_morphological_anomaly {source="Orphanet:141083"}
subset: orphanet_rare {source="Orphanet:141083"}
subset: rare
synonym: "dacryocele" EXACT [Orphanet:141083]
synonym: "dacryocystocele" RELATED [Orphanet:141083]
synonym: "nasolacrimal mucocele" EXACT [Orphanet:141083]
xref: GARD:19944 {source="MONDO:GARD"}
xref: ICD10CM:H04.6 {source="Orphanet:141083/ntbt", source="Orphanet:141083"}
xref: MEDGEN:1810477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141083 {source="MONDO:equivalentTo"}
xref: UMLS:C5575612 {source="MEDGEN:1810477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
relationship: disease_has_location UBERON:0002392 ! nasolacrimal duct

[Term]
id: MONDO:0015388
name: polyrrhinia
def: "Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair." [Orphanet:141091]
subset: gard_rare {source="GARD:19945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141091"}
subset: ordo_malformation_syndrome {source="Orphanet:141091"}
subset: orphanet_rare {source="Orphanet:141091"}
subset: rare
synonym: "Double nose" EXACT [Orphanet:141091]
synonym: "Polyrhinia" EXACT [Orphanet:141091]
xref: GARD:19945 {source="MONDO:GARD"}
xref: ICD10CM:Q30.8 {source="Orphanet:141091/ntbt", source="Orphanet:141091"}
xref: MEDGEN:894825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141091 {source="MONDO:equivalentTo"}
xref: SCTID:716279002 {source="MONDO:equivalentTo"}
xref: UMLS:C4274730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894825"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015389
name: supernumerary nostril
def: "Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face." [Orphanet:141096]
subset: gard_rare {source="GARD:19946", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141096"}
subset: ordo_malformation_syndrome {source="Orphanet:141096"}
subset: orphanet_rare {source="Orphanet:141096"}
subset: rare
synonym: "accessory nostril" EXACT [Orphanet:141096]
synonym: "supernumerary naris" EXACT [HP:0009934]
xref: GARD:19946 {source="MONDO:GARD"}
xref: HP:0009934 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q30.8 {source="Orphanet:141096", source="Orphanet:141096/ntbt"}
xref: MEDGEN:867014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141096 {source="MONDO:equivalentTo"}
xref: SCTID:719163006 {source="MONDO:equivalentTo"}
xref: UMLS:C4021372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:867014"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015390
name: proboscis lateralis
def: "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly." [Orphanet:141099]
subset: gard_rare {source="GARD:19947", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141099"}
subset: ordo_malformation_syndrome {source="Orphanet:141099"}
subset: orphanet_rare {source="Orphanet:141099"}
subset: rare
synonym: "congenital tubular nose" EXACT [Orphanet:141099]
xref: GARD:19947 {source="MONDO:GARD"}
xref: ICD10CM:Q30.8 {source="Orphanet:141099/ntbt", source="Orphanet:141099"}
xref: MEDGEN:900031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141099 {source="MONDO:equivalentTo"}
xref: SCTID:715828006 {source="MONDO:equivalentTo"}
xref: UMLS:C4274985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900031"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015391
name: nasopharyngeal teratoma
def: "A teratoma that involves the nasopharynx." [MONDO:patterns/location]
subset: gard_rare {source="GARD:19948", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:141107"}
subset: rare
synonym: "nasopharynx teratoma" EXACT [MONDO:patterns/location]
synonym: "teratoma of the nasopharynx" EXACT [Orphanet:141107]
xref: GARD:19948 {source="MONDO:GARD"}
xref: ICD10CM:D10.6 {source="MONDO:relatedTo", source="Orphanet:141107/ntbt", source="Orphanet:141107"}
xref: MEDGEN:1625954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141107 {source="MONDO:equivalentTo"}
xref: UMLS:C4531264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625954"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0019500 {source="Orphanet:141107"} ! extragonadal teratoma
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0015392
name: nasal glial heterotopia
def: "Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported." [Orphanet:141112]
subset: gard_rare {source="GARD:19949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141112"}
subset: orphanet_rare {source="Orphanet:141112"}
subset: rare
synonym: "nasal glioma" EXACT [Orphanet:141112]
xref: GARD:19949 {source="MONDO:GARD"}
xref: ICD9:748.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141112 {source="MONDO:equivalentTo"}
xref: SCTID:5645008 {source="MONDO:equivalentTo"}
xref: UMLS:C0266490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539951"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015393
name: nasal ganglioglioma
def: "Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction." [Orphanet:141115]
subset: gard_rare {source="GARD:19950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141115"}
subset: orphanet_rare {source="Orphanet:141115"}
subset: rare
xref: GARD:19950 {source="MONDO:GARD"}
xref: MEDGEN:1786513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141115 {source="MONDO:equivalentTo"}
xref: UMLS:C5548206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786513"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0016733 {source="Orphanet:141115"} ! ganglioglioma
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015394
name: nasal encephalocele
def: "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases." [Orphanet:141118]
subset: gard_rare {source="GARD:19951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:141118"}
subset: rare
xref: GARD:19951 {source="MONDO:GARD"}
xref: ICD10CM:Q01.1 {source="Orphanet:141118/specific", source="Orphanet:141118/e", source="Orphanet:141118"}
xref: MEDGEN:507680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141118 {source="MONDO:equivalentTo"}
xref: SCTID:65455002 {source="MONDO:equivalentTo"}
xref: UMLS:C0014066 {source="MEDGEN:507680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016057 {source="Orphanet:141118"} ! isolated encephalocele
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015395
name: congenital subglottic stenosis
subset: gard_rare {source="GARD:19952", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141121"}
subset: ordo_malformation_syndrome {source="Orphanet:141121"}
subset: orphanet_rare {source="Orphanet:141121"}
subset: rare
xref: GARD:19952 {source="MONDO:GARD"}
xref: ICD10CM:Q31.1 {source="Orphanet:141121", source="MONDO:equivalentTo", source="Orphanet:141121/e"}
xref: icd11.foundation:76585642 {source="Orphanet:141121", source="MONDO:equivalentTo"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200190 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:141121 {source="MONDO:equivalentTo"}
xref: SCTID:204552001 {source="MONDO:equivalentTo"}
xref: UMLS:C0396051 {source="MEDGEN:97973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder
relationship: disease_has_location UBERON:0036068 ! subglottis
relationship: disease_has_major_feature HP:0001607 ! Subglottic stenosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015396
name: congenital laryngeal cyst
def: "Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia." [Orphanet:141124]
subset: gard_rare {source="GARD:19953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141124"}
subset: ordo_malformation_syndrome {source="Orphanet:141124"}
subset: orphanet_rare {source="Orphanet:141124"}
subset: rare
xref: GARD:19953 {source="MONDO:GARD"}
xref: ICD10CM:Q31.8 {source="Orphanet:141124", source="Orphanet:141124/ntbt"}
xref: MEDGEN:451040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141124 {source="MONDO:equivalentTo"}
xref: SCTID:765763007 {source="MONDO:equivalentTo"}
xref: UMLS:C0339880 {source="MEDGEN:451040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder
relationship: disease_has_major_feature HP:0100640 ! Laryngeal cyst
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015397
name: craniofacial microsomia
subset: disease_grouping
subset: gard_rare {source="GARD:12074", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:141132"}
subset: ordo_malformation_syndrome {source="Orphanet:141136", source="Orphanet:374"}
subset: orphanet_rare {source="Orphanet:141132"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Expanded spectrum hemifacial microsomia" EXACT [Orphanet:374]
synonym: "Expanded spectrum of hemifacial microsomia" EXACT [Orphanet:374]
synonym: "facio-auriculo-vertebral spectrum" EXACT [DOID:2907]
synonym: "facioauriculovertebral dysplasia" EXACT [Orphanet:374]
synonym: "facioauriculovertebral sequence" RELATED [OMIM:164210]
synonym: "Fav sequence" RELATED [OMIM:164210]
synonym: "first and second branchial arch syndrome" EXACT [DOID:2907]
synonym: "first arch syndrome" EXACT [DOID:2907]
synonym: "first branchial arch syndrome" EXACT [Orphanet:141136]
synonym: "Goldenhar disease" EXACT [GARD:0006540]
synonym: "Goldenhar syndrome" EXACT [OMIM:164210]
synonym: "hemifacial microsomia" EXACT [DOID:2907, MONDO:Lexical, OMIM:164210]
synonym: "HFM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164210]
synonym: "Laterofacial microsomia" EXACT [Orphanet:141136]
synonym: "OAV (oculoauriculovertebral) dysplasia" EXACT [DOID:2907]
synonym: "OAV dysplasia" EXACT [OMIM:164210, Orphanet:374]
synonym: "OAV spectrum" EXACT [Orphanet:141132]
synonym: "OAVD" RELATED ABBREVIATION [GARD:0012074]
synonym: "OAVS" EXACT ABBREVIATION [Orphanet:374]
synonym: "oculo-auriculo-vertebral dysplasia" RELATED [GARD:0012074]
synonym: "oculo-auriculo-vertebral spectrum" EXACT [Orphanet:141132]
synonym: "oculoauriculovertebral dysplasia" EXACT [OMIM:164210, Orphanet:374]
synonym: "oculoauriculovertebral spectrum" EXACT [OMIM:164210]
synonym: "oculoauriculovertebral syndrome" EXACT [Orphanet:374]
synonym: "otomandibular dysostosis" EXACT EXCLUDE [DOID:2907, Orphanet:141136]
synonym: "otomandibular syndrome" EXACT [Orphanet:141136]
synonym: "unilateral or bilateral and asymmetric otomandibular dysplasia" EXACT [Orphanet:141132]
xref: DOID:2907 {source="MONDO:equivalentTo"}
xref: GARD:12074 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:141136", source="Orphanet:141136/attributed", source="Orphanet:141136/ntbt"}
xref: ICD10CM:Q87.0 {source="DOID:2907", source="Orphanet:374/inclusion", source="Orphanet:374/ntbt", source="Orphanet:374"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006053 {source="DOID:2907", source="Orphanet:374/e", source="MONDO:equivalentTo", source="Orphanet:374"}
xref: NCIT:C84740 {source="DOID:2907", source="MONDO:equivalentTo"}
xref: OMIMPS:164210 {source="MONDO:equivalentTo"}
xref: Orphanet:141132 {source="MONDO:equivalentTo"}
xref: Orphanet:141136 {source="MONDO:equivalentObsolete"}
xref: Orphanet:374 {source="DOID:2907", source="MONDO:equivalentObsolete", source="OMIM:164210"}
xref: SCTID:109393007 {source="DOID:2907", source="MONDO:equivalentTo", source="MONDO:directSiblingOf"}
xref: SCTID:15557005 {source="DOID:2907"}
xref: SCTID:205418005 {source="DOID:2907"}
xref: SCTID:254025006 {source="DOID:2907"}
xref: SCTID:254026007 {source="DOID:2907"}
xref: SCTID:367462009 {source="DOID:2907", source="MONDO:equivalentTo"}
xref: SCTID:46567003 {source="DOID:2907"}
xref: UMLS:C0265240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75554"}
is_a: MONDO:0002254 {source="DOID:2907", source="MONDO:Redundant", source="NCIT:C84740"} ! syndromic disease
is_a: MONDO:0007712 ! oculoauriculovertebral spectrum with radial defects
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0015161 {source="Orphanet:374", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_subClassOf MONDO:0015218 {source="Orphanet:374", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic developmental defect of the eye
relationship: excluded_subClassOf MONDO:0015334 {source="Orphanet:374", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete branchial arch or oral-acral syndrome
relationship: excluded_subClassOf MONDO:0020157 {source="Orphanet:374", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic palpebral coloboma
relationship: excluded_subClassOf MONDO:0020205 {source="Orphanet:374", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete bulbar conjunctival dermoid or conjunctival dermolipoma
relationship: excluded_subClassOf MONDO:0020215 {source="Orphanet:374", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic corneal dystrophy
relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:374", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly
relationship: excluded_subClassOf MONDO:0043008 {source="Orphanet:374", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:164210"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6452" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum" xsd:anyURI {source="GARD:0012074"}

[Term]
id: MONDO:0015398
name: obsolete hemifacial microsomia
subset: otar {source="MONDO:OTAR"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6452" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015397

[Term]
id: MONDO:0015399
name: glossopalatine ankylosis
def: "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge." [Orphanet:141163]
subset: gard_rare {source="GARD:19954", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141163"}
subset: ordo_malformation_syndrome {source="Orphanet:141163"}
subset: orphanet_rare {source="Orphanet:141163"}
subset: rare
synonym: "Cosack syndrome" EXACT [Orphanet:141163]
xref: GARD:19954 {source="MONDO:GARD"}
xref: ICD10CM:Q38.3 {source="Orphanet:141163/attributed", source="Orphanet:141163/ntbt", source="Orphanet:141163"}
xref: MEDGEN:929238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141163 {source="MONDO:equivalentTo"}
xref: SCTID:717814004 {source="MONDO:equivalentTo"}
xref: UMLS:C4303569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929238"}
is_a: MONDO:0017139 {source="Orphanet:141163"} ! oromandibular-limb hypogenesis syndrome

[Term]
id: MONDO:0015400
name: frontonasal arteriovenous malformation
def: "Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure." [Orphanet:141168]
subset: gard_rare {source="GARD:19955", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141168"}
subset: ordo_malformation_syndrome {source="Orphanet:141168"}
subset: orphanet_rare {source="Orphanet:141168"}
subset: rare
xref: GARD:19955 {source="MONDO:GARD"}
xref: ICD10CM:Q27.3 {source="Orphanet:141168", source="Orphanet:141168/ntbt"}
xref: MEDGEN:824839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141168 {source="MONDO:equivalentTo"}
xref: UMLS:C3838993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:824839"}
is_a: MONDO:0015500 {source="Orphanet:141168"} ! facial arteriovenous malformation

[Term]
id: MONDO:0015401
name: maxillary arteriovenous malformation
def: "Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic." [Orphanet:141171]
subset: gard_rare {source="GARD:19956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141171"}
subset: ordo_malformation_syndrome {source="Orphanet:141171"}
subset: orphanet_rare {source="Orphanet:141171"}
subset: rare
synonym: "arteriovenous malformation of maxilla" EXACT [Orphanet:141171]
xref: GARD:19956 {source="MONDO:GARD"}
xref: ICD10CM:Q27.3 {source="Orphanet:141171/ntbt", source="Orphanet:141171"}
xref: MEDGEN:825655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141171 {source="MONDO:equivalentTo"}
xref: SCTID:703335004 {source="MONDO:equivalentTo"}
xref: UMLS:C3839810 {source="MEDGEN:825655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015500 {source="Orphanet:141171"} ! facial arteriovenous malformation

[Term]
id: MONDO:0015402
name: mandibular arteriovenous malformation
def: "Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock." [Orphanet:141174]
subset: gard_rare {source="GARD:19957", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141174"}
subset: ordo_malformation_syndrome {source="Orphanet:141174"}
subset: orphanet_rare {source="Orphanet:141174"}
subset: rare
synonym: "arteriovenous malformation of mandible" EXACT [Orphanet:141174]
xref: GARD:19957 {source="MONDO:GARD"}
xref: ICD10CM:Q27.3 {source="Orphanet:141174/ntbt", source="Orphanet:141174"}
xref: MEDGEN:825297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141174 {source="MONDO:equivalentTo"}
xref: SCTID:703334000 {source="MONDO:equivalentTo"}
xref: UMLS:C3839452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:825297"}
is_a: MONDO:0015500 {source="Orphanet:141174"} ! facial arteriovenous malformation

[Term]
id: MONDO:0015403
name: non-involuting congenital hemangioma
def: "Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute)." [GARD:0010890]
subset: gard_rare {source="GARD:10890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141179"}
subset: orphanet_rare {source="Orphanet:141179"}
subset: rare
synonym: "NICH" EXACT ABBREVIATION [GARD:0010890, https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, Orphanet:141179]
synonym: "noninvoluting congenital hemangioma" EXACT [GARD:0010890]
xref: GARD:10890 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:141179", source="Orphanet:141179/ntbt"}
xref: MEDGEN:698685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C172208 {source="MONDO:equivalentTo"}
xref: Orphanet:141179 {source="GARD:0010890", source="MONDO:equivalentTo"}
xref: SCTID:703295003 {source="MONDO:equivalentTo"}
xref: UMLS:C1275417 {source="MEDGEN:698685", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018715 {source="Orphanet:141179"} ! congenital hemangioma
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma" xsd:anyURI {source="GARD:0010890"}

[Term]
id: MONDO:0015404
name: rapidly involuting congenital hemangioma
def: "Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution." [Orphanet:141184]
subset: gard_rare {source="GARD:19958", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141184"}
subset: orphanet_rare {source="Orphanet:141184"}
subset: rare
synonym: "rich" EXACT [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, Orphanet:141184]
xref: DOID:0080895 {source="MONDO:equivalentTo"}
xref: GARD:19958 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:141184", source="Orphanet:141184/ntbt"}
xref: MEDGEN:698687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C172207 {source="MONDO:equivalentTo"}
xref: Orphanet:141184 {source="MONDO:equivalentTo"}
xref: SCTID:703294004 {source="MONDO:equivalentTo"}
xref: UMLS:C1275421 {source="MEDGEN:698687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018715 {source="Orphanet:141184"} ! congenital hemangioma
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015405
name: cerebrofacial arteriovenous metameric syndrome
def: "A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region." [https://orcid.org/0000-0002-6601-2165, PMID:27787648]
subset: disease_grouping
subset: gard_rare {source="GARD:12662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:141189"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAMS" EXACT ABBREVIATION [Orphanet:141189]
xref: GARD:12662 {source="MONDO:GARD"}
xref: ICD10CM:Q28.2 {source="Orphanet:141189", source="Orphanet:141189/ntbt"}
xref: MEDGEN:825110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141189 {source="MONDO:equivalentTo"}
xref: SCTID:703266007 {source="MONDO:equivalentTo"}
xref: UMLS:C3839265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:825110"}
is_a: MONDO:0001256 {source="Orphanet:141189"} ! arteriovenous hemangioma/malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare

[Term]
id: MONDO:0015406
name: cerebrofacial arteriovenous metameric syndrome type 1
subset: gard_rare {source="GARD:19959", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141194"}
subset: ordo_malformation_syndrome {source="Orphanet:141194"}
subset: orphanet_rare {source="Orphanet:141194"}
subset: rare
synonym: "CAMS1" EXACT ABBREVIATION [Orphanet:141194]
xref: GARD:19959 {source="MONDO:GARD"}
xref: ICD10CM:Q28.2 {source="Orphanet:141194", source="Orphanet:141194/ntbt"}
xref: MEDGEN:825947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141194 {source="MONDO:equivalentTo"}
xref: SCTID:703267003 {source="MONDO:equivalentTo"}
xref: UMLS:C3840102 {source="MONDO:equivalentTo", source="MEDGEN:825947", source="MONDO:MEDGEN"}
is_a: MONDO:0015405 {source="Orphanet:141194"} ! cerebrofacial arteriovenous metameric syndrome

[Term]
id: MONDO:0015407
name: cerebrofacial arteriovenous metameric syndrome type 3
subset: gard_rare {source="GARD:19960", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141199"}
subset: ordo_malformation_syndrome {source="Orphanet:141199"}
subset: orphanet_rare {source="Orphanet:141199"}
subset: rare
synonym: "CAMS3" EXACT ABBREVIATION [Orphanet:141199]
xref: GARD:19960 {source="MONDO:GARD"}
xref: ICD10CM:Q28.2 {source="Orphanet:141199/ntbt", source="Orphanet:141199"}
xref: MEDGEN:824537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141199 {source="MONDO:equivalentTo"}
xref: SCTID:703268008 {source="MONDO:equivalentTo"}
xref: UMLS:C3838691 {source="MEDGEN:824537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015405 {source="Orphanet:141199"} ! cerebrofacial arteriovenous metameric syndrome

[Term]
id: MONDO:0015408
name: diffuse lymphatic malformation
def: "A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality." [Orphanet:141209]
subset: gard_rare {source="GARD:19961", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141209"}
subset: orphanet_rare {source="Orphanet:141209"}
subset: rare
synonym: "diffuse lymphangioma" EXACT [Orphanet:141209]
synonym: "diffuse lymphangiomatosis" EXACT [Orphanet:141209]
synonym: "disseminated lymphangioma" EXACT [Orphanet:141209]
synonym: "disseminated lymphangiomatosis" EXACT [Orphanet:141209]
synonym: "disseminated lymphatic malformation" EXACT [Orphanet:141209]
synonym: "generalised lymphatic anomaly" EXACT OMO:0003005 []
synonym: "generalized lymphatic anomaly" EXACT [Orphanet:141209]
synonym: "Gla" EXACT [Orphanet:141209]
xref: DOID:0081031 {source="MONDO:equivalentTo"}
xref: GARD:19961 {source="MONDO:GARD"}
xref: ICD10CM:I89.8 {source="Orphanet:141209/ntbt", source="Orphanet:141209"}
xref: MEDGEN:825766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200879 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201033 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:141209 {source="MONDO:equivalentTo"}
xref: SCTID:703298001 {source="MONDO:equivalentTo"}
xref: UMLS:C3839921 {source="MEDGEN:825766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002013 {source="Orphanet:141209"} ! lymphangioma

[Term]
id: MONDO:0015409
name: isolated congenital syngnathia
def: "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis." [Orphanet:141214]
subset: gard_rare {source="GARD:19962", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141214"}
subset: ordo_malformation_syndrome {source="Orphanet:141214"}
subset: orphanet_rare {source="Orphanet:141214"}
subset: rare
synonym: "isolated congenital maxillomandibular fusion" EXACT [Orphanet:141214]
xref: GARD:19962 {source="MONDO:GARD"}
xref: ICD10CM:Q67.4 {source="Orphanet:141214", source="Orphanet:141214/ntbt"}
xref: MEDGEN:1635309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141214 {source="MONDO:equivalentTo"}
xref: SCTID:763317002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635309"}
is_a: MONDO:0021147 {source="Orphanet:141214"} ! disorder of development or morphogenesis
is_a: MONDO:0024623 {source="Orphanet:141214"} ! otorhinolaryngologic disease
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:141214", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015410
name: nasal dorsum fistula/cyst
subset: gard_rare {source="GARD:19963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141219"}
subset: ordo_morphological_anomaly {source="Orphanet:141219"}
subset: orphanet_rare {source="Orphanet:141219"}
subset: rare
xref: GARD:19963 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141219/ntbt", source="Orphanet:141219"}
xref: MEDGEN:573381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141219 {source="MONDO:equivalentTo"}
xref: UMLS:C0339853 {source="MEDGEN:573381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015476 {source="Orphanet:141219"} ! cysts and fistulae of the face and oral cavity

[Term]
id: MONDO:0015411
name: facial cleft
def: "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences." [NCIT:C124510]
subset: disease_grouping
subset: gard_rare {source="GARD:19964", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:141229"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft face" EXACT [NCIT:C124510]
synonym: "craniofacial cleft" EXACT [Orphanet:141229]
synonym: "prosoposchisis" RELATED [NCIT:C124510]
xref: GARD:19964 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141229/ntbt", source="Orphanet:141229"}
xref: icd11.foundation:11389088 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:141229"}
xref: MEDGEN:146898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124510 {source="MONDO:equivalentTo"}
xref: Orphanet:141229 {source="MONDO:equivalentTo"}
xref: SCTID:92821006 {source="MONDO:equivalentTo"}
xref: UMLS:C0685787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146898"}
is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton

[Term]
id: MONDO:0015412
name: obsolete median facial cleft
subset: ordo_group_of_disorders {source="Orphanet:141234"}
synonym: "Midline facial cleft" EXACT [Orphanet:141234]
synonym: "Tessier number 0-14 and 30 facial cleft" EXACT [Orphanet:141234]
xref: GARD:19965 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q18.8 {source="Orphanet:141234", source="Orphanet:141234/ntbt"}
xref: Orphanet:141234 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015413
name: median cleft of the upper lip and maxilla
def: "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated." [Orphanet:141239]
subset: gard_rare {source="GARD:19966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141239"}
subset: ordo_morphological_anomaly {source="Orphanet:141239"}
subset: orphanet_rare {source="Orphanet:141239"}
subset: rare
xref: GARD:19966 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141239/ntbt", source="Orphanet:141239"}
xref: MEDGEN:784645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141239 {source="MONDO:equivalentTo"}
xref: UMLS:C3697381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:784645"}
is_a: MONDO:0015411 {source="PMID:27218021", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015414
name: paramedian nasal cleft
def: "Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved." [Orphanet:141242]
subset: gard_rare {source="GARD:16973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141242"}
subset: ordo_morphological_anomaly {source="Orphanet:141242"}
subset: orphanet_rare {source="Orphanet:141242"}
subset: rare
synonym: "alar cleft" EXACT [Orphanet:141242]
synonym: "alar rim cleft" EXACT [Orphanet:141242]
synonym: "cleft nose" EXACT [Orphanet:141242]
synonym: "isolated cleft of the ala nasi" EXACT [Orphanet:141242]
synonym: "isolated coloboma of the nose" EXACT [Orphanet:141242]
synonym: "Tessier number 1 cleft" EXACT [Orphanet:141242]
xref: GARD:16973 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141242/ntbt", source="Orphanet:141242"}
xref: ICD9:748.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1681273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141242 {source="MONDO:equivalentTo"}
xref: SCTID:204521002 {source="MONDO:equivalentTo"}
xref: UMLS:C4759655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681273"}
is_a: MONDO:0008866 ! bifid nose, autosomal recessive

[Term]
id: MONDO:0015415
name: obsolete oblique facial cleft
subset: ordo_group_of_disorders {source="Orphanet:141253"}
synonym: "Orbitofacial cleft" EXACT [Orphanet:141253]
xref: GARD:19967 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q18.8 {source="Orphanet:141253/ntbt", source="Orphanet:141253"}
xref: Orphanet:141253 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015416
name: Tessier number 5 facial cleft
subset: gard_rare {source="GARD:19968", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141261"}
subset: ordo_morphological_anomaly {source="Orphanet:141261"}
subset: orphanet_rare {source="Orphanet:141261"}
subset: rare
xref: GARD:19968 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141261", source="Orphanet:141261/ntbt"}
xref: MEDGEN:609364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141261 {source="MONDO:equivalentTo"}
xref: UMLS:C0432119 {source="MEDGEN:609364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015411 {source="PMID:19254060", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015417
name: Tessier number 6 facial cleft
subset: gard_rare {source="GARD:19969", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141265"}
subset: ordo_morphological_anomaly {source="Orphanet:141265"}
subset: orphanet_rare {source="Orphanet:141265"}
subset: rare
xref: GARD:19969 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141265/ntbt", source="Orphanet:141265"}
xref: MEDGEN:609365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141265 {source="MONDO:equivalentTo"}
xref: UMLS:C0432120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609365"}
is_a: MONDO:0015411 {source="PMID:35285292", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015418
name: obsolete lateral facial cleft
subset: ordo_group_of_disorders {source="Orphanet:141269"}
subset: otar {source="MONDO:OTAR"}
synonym: "Tessier number 7 facial cleft" EXACT [Orphanet:141269]
synonym: "transverse facial cleft" EXACT [Orphanet:141269]
xref: GARD:19970 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q18.8 {source="Orphanet:141269", source="Orphanet:141269/attributed", source="Orphanet:141269/ntbt"}
xref: Orphanet:141269 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015419
name: midline cervical cleft
def: "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia." [Orphanet:141288]
subset: gard_rare {source="GARD:19971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141288"}
subset: ordo_morphological_anomaly {source="Orphanet:141288"}
subset: orphanet_rare {source="Orphanet:141288"}
subset: rare
xref: GARD:19971 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:141288", source="Orphanet:141288/ntbt"}
xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1374384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141288 {source="MONDO:equivalentTo"}
xref: SCTID:403557001 {source="MONDO:equivalentTo"}
xref: UMLS:C4479645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1374384"}
is_a: MONDO:0015411 {source="PMID:31491734", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015420
name: cleft lip and alveolus
def: "Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees." [Orphanet:141291]
subset: gard_rare {source="GARD:16976", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:141291"}
subset: ordo_morphological_anomaly {source="Orphanet:141291"}
subset: orphanet_rare {source="Orphanet:141291"}
subset: rare
xref: GARD:16976 {source="MONDO:GARD"}
xref: ICD10CM:Q36.0 {source="Orphanet:141291/btnt", source="Orphanet:141291"}
xref: ICD10CM:Q36.1 {source="Orphanet:141291/btnt", source="Orphanet:141291"}
xref: ICD10CM:Q36.9 {source="Orphanet:141291/btnt", source="Orphanet:141291"}
xref: icd11.foundation:1653169553 {source="MONDO:equivalentTo", source="Orphanet:141291"}
xref: ICD9:525.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:720590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:141291 {source="MONDO:equivalentTo"}
xref: SCTID:373643003 {source="MONDO:equivalentTo"}
xref: UMLS:C1298692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:720590"}
is_a: MONDO:0000358 {source="PMID:33705067", source="https://orcid.org/0009-0001-6494-4831"} ! orofacial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015421
name: orofaciodigital syndrome type 12
def: "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated." [Orphanet:141327]
subset: gard_rare {source="GARD:10693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:141327"}
subset: rare
synonym: "Moran-Barroso syndrome" EXACT [Orphanet:141327]
synonym: "OFD12" EXACT ABBREVIATION [Orphanet:141327]
synonym: "OFDS 12" RELATED [GARD:0010693]
synonym: "oral facial digital syndrome 12" RELATED [GARD:0010693]
synonym: "oral facial digital syndrome type 12" RELATED [GARD:0010693]
synonym: "oral-facial-digital syndrome 12" RELATED [GARD:0010693]
synonym: "oral-facial-digital syndrome type 12" EXACT [Orphanet:141327]
synonym: "orofaciodigital syndrome 12" RELATED [GARD:0010693]
synonym: "orofaciodigital syndrome XII" RELATED [GARD:0010693]
xref: GARD:10693 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:141327/attributed", source="Orphanet:141327/ntbt", source="Orphanet:141327"}
xref: MEDGEN:420948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548034 {source="Orphanet:141327/e", source="MONDO:equivalentTo", source="Orphanet:141327"}
xref: Orphanet:141327 {source="MONDO:equivalentTo"}
xref: SCTID:763834000 {source="MONDO:equivalentTo"}
xref: UMLS:C2932679 {source="MEDGEN:420948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015375 {source="MESH:C548034", source="Orphanet:141327"} ! orofaciodigital syndrome

[Term]
id: MONDO:0015422
name: orofaciodigital syndrome type 13
def: "Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated." [Orphanet:141330]
subset: gard_rare {source="GARD:10694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:141330"}
subset: rare
synonym: "Degner syndrome" EXACT [Orphanet:141330]
synonym: "OFD syndrome 13" RELATED [GARD:0010694]
synonym: "OFD13" EXACT ABBREVIATION [Orphanet:141330]
synonym: "OFDS 13" RELATED [GARD:0010694]
synonym: "oral facial digital syndrome 13" RELATED [GARD:0010694]
synonym: "oral facial digital syndrome type 13" RELATED [GARD:0010694]
synonym: "oral-facial-digital syndrome 13" RELATED [GARD:0010694]
synonym: "oral-facial-digital syndrome type 13" EXACT [Orphanet:141330]
synonym: "oral-facial-digital syndrome XIII" RELATED [GARD:0010694]
synonym: "orofaciodigital syndrome 13" RELATED [GARD:0010694]
synonym: "orofaciodigital syndrome XIII" RELATED [GARD:0010694]
xref: GARD:10694 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:141330/attributed", source="Orphanet:141330/ntbt", source="Orphanet:141330"}
xref: MEDGEN:420203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548035 {source="Orphanet:141330", source="MONDO:equivalentTo", source="Orphanet:141330/e"}
xref: Orphanet:141330 {source="MONDO:equivalentTo"}
xref: SCTID:763835004 {source="MONDO:equivalentTo"}
xref: UMLS:C2932680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:420203"}
is_a: MONDO:0015375 {source="MESH:C548035", source="Orphanet:141330"} ! orofaciodigital syndrome

[Term]
id: MONDO:0015423
name: obsolete anaplastic thyroid carcinoma
def: "OBSOLETE. Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans." [Orphanet:142]
is_obsolete: true
replaced_by: MONDO:0006468

[Term]
id: MONDO:0015424
name: lethal chondrodysplasia, Moerman type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:3225", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:1420"}
subset: rare
synonym: "lethal chondrodysplasia Moerman type" RELATED [GARD:0003225]
synonym: "Moerman-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1420]
xref: GARD:3225 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:1420", source="Orphanet:1420/attributed", source="Orphanet:1420/ntbt"}
xref: Orphanet:1420 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0005516 {source="https://orcid.org/0009-0001-6494-4831"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type" xsd:anyURI {source="GARD:0003225"}

[Term]
id: MONDO:0015425
name: lethal recessive chondrodysplasia
def: "Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." [Orphanet:1423]
subset: gard_rare {source="GARD:3399", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1423"}
subset: ordo_malformation_syndrome {source="Orphanet:1423"}
subset: orphanet_rare {source="Orphanet:1423"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia lethal recessive" EXACT [MONDO:0022725]
synonym: "Maroteaux-Stanescu-Cousin syndrome" EXACT [Orphanet:1423]
xref: GARD:3399 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:1423", source="Orphanet:1423/attributed", source="Orphanet:1423/ntbt"}
xref: MEDGEN:930414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1423 {source="MONDO:equivalentTo"}
xref: SCTID:719404009 {source="MONDO:equivalentTo"}
xref: UMLS:C4304745 {source="MONDO:equivalentTo", source="MEDGEN:930414", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0022723 {source="https://orcid.org/0000-0001-5208-3432"} ! chondrodysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1294/chondrodysplasia-lethal-recessive" xsd:anyURI {source="GARD:0001294"}

[Term]
id: MONDO:0015426
name: Desbuquois dysplasia
def: "Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies." [Orphanet:1425]
subset: gard_rare {source="GARD:1818", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1425"}
subset: orphanet_rare {source="Orphanet:1425"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DBQD" EXACT ABBREVIATION [NCIT:C124056]
synonym: "Desbuquois dysplasia" EXACT [Orphanet:1425]
synonym: "desbuquois syndrome" EXACT [DOID:0060462]
synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT [DOID:0060462]
synonym: "micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [GARD:0001818]
xref: DOID:0060462 {source="MONDO:equivalentTo"}
xref: GARD:1818 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:1425", source="Orphanet:1425/attributed", source="Orphanet:1425/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535943 {source="DOID:0060462", source="Orphanet:1425", source="Orphanet:1425/e"}
xref: NCIT:C124056 {source="MONDO:equivalentTo"}
xref: OMIMPS:251450 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1425 {source="DOID:0060462", source="MONDO:equivalentTo"}
xref: SCTID:254099008 {source="DOID:0060462", source="MONDO:equivalentTo"}
xref: UMLS:C0432242 {source="MEDGEN:98479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="DOID:0060462", source="NCIT:C124056"} ! osteochondrodysplasia
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:1425", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:251450"} ! inherited

[Term]
id: MONDO:0015427
name: paroxysmal dyskinesia
def: "Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome)." [Orphanet:1431]
subset: disease_grouping
subset: gard_rare {source="GARD:18721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1431"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paroxysmal choreoathetosis" EXACT [Orphanet:1431]
synonym: "paroxysmal dystonic choreoathetosis" EXACT [Orphanet:1431]
xref: GARD:18721 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="Orphanet:1431", source="Orphanet:1431/attributed", source="Orphanet:1431/ntbt"}
xref: ICD9:333.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:156242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002819 {source="Orphanet:1431", source="MONDO:relatedTo", source="Orphanet:1431/e"}
xref: Orphanet:1431 {source="MONDO:equivalentTo"}
xref: SCTID:49949003 {source="MONDO:equivalentTo"}
xref: UMLS:C0752210 {source="MEDGEN:156242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016058 {source="Orphanet:1431"} ! paroxysmal dystonia

[Term]
id: MONDO:0015428
name: choroidal atrophy-alopecia syndrome
def: "Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." [Orphanet:1433]
subset: gard_rare {source="GARD:3704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1433"}
subset: ordo_malformation_syndrome {source="Orphanet:1433"}
subset: orphanet_rare {source="Orphanet:1433"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choroidal atrophy alopecia" RELATED [GARD:0003704]
synonym: "fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails" RELATED [GARD:0003704]
synonym: "Moloney syndrome" EXACT [Orphanet:1433]
synonym: "regional choroidal atrophy and alopecia" EXACT [Orphanet:1433]
xref: GARD:3704 {source="MONDO:GARD"}
xref: MEDGEN:419316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535810 {source="MONDO:equivalentTo"}
xref: Orphanet:1433 {source="MONDO:equivalentTo"}
xref: SCTID:720850008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931026 {source="MEDGEN:419316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:1433"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0015429
name: obsolete choroideremia-hypopituitarism syndrome
subset: gard_rare {source="MONDO:GARD"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7553" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022737

[Term]
id: MONDO:0015430
name: ring chromosome 1
def: "Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly." [Orphanet:1437]
subset: gard_rare {source="GARD:1320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1437"}
subset: ordo_malformation_syndrome {source="Orphanet:1437"}
subset: orphanet_rare {source="Orphanet:1437"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 1 ring" RELATED [GARD:0001320]
synonym: "chromosome 1, ring" RELATED [GTR:AN0102272]
synonym: "r(1) syndrome" EXACT [Orphanet:1437]
synonym: "R1" RELATED ABBREVIATION [GARD:0001320]
synonym: "Ring 1" EXACT [Orphanet:1437]
synonym: "Ring chromosome 1 syndrome" RELATED [Orphanet:1437]
synonym: "Ring chromosome type 1" EXACT [MONDORULE:1, Orphanet:1437]
xref: GARD:1320 {source="MONDO:GARD"}
xref: GTR:AN0102272
xref: ICD10CM:Q93.2 {source="Orphanet:1437", source="Orphanet:1437/attributed", source="Orphanet:1437/ntbt"}
xref: MEDGEN:539215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535361 {source="MONDO:equivalentTo", source="Orphanet:1437", source="Orphanet:1437/e"}
xref: NCIT:C36474 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: Orphanet:1437 {source="MONDO:equivalentTo"}
xref: SCTID:47017007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265395 {source="MEDGEN:539215", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr1 ! chromosome 1 (Human)

[Term]
id: MONDO:0015431
name: ring chromosome 10
def: "Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases." [Orphanet:1438]
subset: gard_rare {source="GARD:1322", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1438"}
subset: ordo_malformation_syndrome {source="Orphanet:1438"}
subset: orphanet_rare {source="Orphanet:1438"}
subset: rare
synonym: "chromosome 10 ring" RELATED [GARD:0001322]
synonym: "r10" RELATED [GARD:0001322]
synonym: "Ring 10" RELATED [GARD:0001322]
synonym: "Ring chromosome 10 syndrome" RELATED [Orphanet:1438]
synonym: "Ring chromosome type 10" EXACT [MONDORULE:2, Orphanet:1438]
xref: GARD:1322 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1438/attributed", source="Orphanet:1438/ntbt", source="Orphanet:1438"}
xref: MEDGEN:539252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538086 {source="Orphanet:1438/e", source="MONDO:equivalentTo", source="Orphanet:1438"}
xref: Orphanet:1438 {source="MONDO:equivalentTo"}
xref: SCTID:86997002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539252"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr10 ! chromosome 10 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1438", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10" xsd:anyURI {source="GARD:0001322"}

[Term]
id: MONDO:0015432
name: ring chromosome 12
def: "Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported." [Orphanet:1439]
subset: gard_rare {source="GARD:1325", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1439"}
subset: ordo_malformation_syndrome {source="Orphanet:1439"}
subset: orphanet_rare {source="Orphanet:1439"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 12 ring" RELATED [GARD:0001325]
synonym: "R12" RELATED ABBREVIATION [GARD:0001325]
synonym: "Ring 12" RELATED [GARD:0001325]
synonym: "Ring chromosome 12 syndrome" RELATED [Orphanet:1439]
synonym: "Ring chromosome type 12" EXACT [MONDORULE:2, Orphanet:1439]
xref: GARD:1325 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1439", source="Orphanet:1439/attributed", source="Orphanet:1439/ntbt"}
xref: MEDGEN:162879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538298 {source="MONDO:equivalentTo"}
xref: Orphanet:1439 {source="MONDO:equivalentTo"}
xref: UMLS:C0795843 {source="MEDGEN:162879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr12 ! chromosome 12 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12" xsd:anyURI {source="GARD:0001325"}

[Term]
id: MONDO:0015433
name: ring chromosome 17
def: "Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region." [Orphanet:1441]
subset: gard_rare {source="GARD:4724", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1441"}
subset: ordo_malformation_syndrome {source="Orphanet:1441"}
subset: orphanet_rare {source="Orphanet:1441"}
subset: rare
synonym: "chromosome 17 ring" RELATED [GARD:0004724]
synonym: "R17" RELATED ABBREVIATION [GARD:0004724]
synonym: "Ring 17" RELATED [GARD:0004724]
synonym: "Ring chromosome 17 syndrome" RELATED [Orphanet:1441]
synonym: "Ring chromosome type 17" EXACT [MONDORULE:2, Orphanet:1441]
xref: GARD:4724 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1441/attributed", source="Orphanet:1441/ntbt", source="Orphanet:1441"}
xref: MEDGEN:419477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538046 {source="Orphanet:1441", source="MONDO:equivalentTo", source="Orphanet:1441/e"}
xref: Orphanet:1441 {source="MONDO:equivalentTo"}
xref: UMLS:C2931714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419477"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr17 ! chromosome 17 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17" xsd:anyURI {source="GARD:0004724"}

[Term]
id: MONDO:0015434
name: ring chromosome 18
def: "Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics." [Orphanet:1442]
subset: gard_rare {source="GARD:6077", source="MONDO:GARD"}
subset: nord_rare {source="NORD:943", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1442"}
subset: ordo_malformation_syndrome {source="Orphanet:1442"}
subset: orphanet_rare {source="Orphanet:1442"}
subset: rare
synonym: "Chromosome 18 Ring" EXACT [NORD:943]
synonym: "chromosome 18 ring" RELATED [GARD:0006077]
synonym: "R18" RELATED ABBREVIATION [GARD:0006077]
synonym: "Ring 18" RELATED [GARD:0006077]
synonym: "Ring chromosome 18 syndrome" RELATED [Orphanet:1442]
synonym: "Ring chromosome type 18" EXACT [MONDORULE:2, Orphanet:1442]
xref: GARD:6077 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1442", source="Orphanet:1442/attributed", source="Orphanet:1442/ntbt"}
xref: MEDGEN:539285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538304 {source="Orphanet:1442", source="MONDO:equivalentTo", source="Orphanet:1442/e"}
xref: NORD:943 {source="MONDO:NORD"}
xref: Orphanet:1442 {source="MONDO:equivalentTo"}
xref: SCTID:88154004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539285"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18" xsd:anyURI {source="GARD:0006077"}

[Term]
id: MONDO:0015435
name: ring chromosome 19
def: "Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported." [Orphanet:1443]
subset: gard_rare {source="GARD:1333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1443"}
subset: ordo_malformation_syndrome {source="Orphanet:1443"}
subset: orphanet_rare {source="Orphanet:1443"}
subset: rare
synonym: "chromosome 19 ring" RELATED [GARD:0001333]
synonym: "R19" RELATED ABBREVIATION [GARD:0001333]
synonym: "Ring 19" RELATED [GARD:0001333]
synonym: "Ring chromosome 19 syndrome" RELATED [Orphanet:1443]
synonym: "Ring chromosome type 19" EXACT [MONDORULE:2, Orphanet:1443]
xref: GARD:1333 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1443/attributed", source="Orphanet:1443/ntbt", source="Orphanet:1443"}
xref: MEDGEN:419501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538310 {source="MONDO:equivalentTo"}
xref: Orphanet:1443 {source="MONDO:equivalentTo"}
xref: SCTID:765484001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419501"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr19 ! chromosome 19 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19" xsd:anyURI {source="GARD:0001333"}

[Term]
id: MONDO:0015436
name: ring chromosome 20
def: "Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present." [Orphanet:1444]
subset: gard_rare {source="GARD:1334", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1444"}
subset: ordo_malformation_syndrome {source="Orphanet:1444"}
subset: orphanet_rare {source="Orphanet:1444"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 20 ring" RELATED [GARD:0001334]
synonym: "R20" RELATED ABBREVIATION [GARD:0001334]
synonym: "Ring 20" RELATED [GARD:0001334]
synonym: "Ring chromosome 20 syndrome" RELATED [GARD:0001334]
synonym: "Ring chromosome type 20" EXACT [MONDORULE:2, Orphanet:1444]
xref: GARD:1334 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1444/attributed", source="Orphanet:1444/ntbt", source="Orphanet:1444"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:489853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535369 {source="Orphanet:1444", source="Orphanet:1444/e"}
xref: MESH:C580424 {source="MONDO:equivalentTo"}
xref: NANDO:1200597 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C169001 {source="MONDO:equivalentTo"}
xref: Orphanet:1444 {source="MONDO:equivalentTo"}
xref: SCTID:23686004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265482 {source="MONDO:equivalentTo", source="MEDGEN:489853", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr20 ! chromosome 20 (Human)
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20" xsd:anyURI {source="GARD:0001334"}

[Term]
id: MONDO:0015437
name: ring chromosome 21
def: "Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals." [Orphanet:1445]
subset: gard_rare {source="GARD:6083", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:947"}
subset: ordo_disorder {source="Orphanet:1445"}
subset: ordo_malformation_syndrome {source="Orphanet:1445"}
subset: orphanet_rare {source="Orphanet:1445"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 21 en anneau" EXACT [Orphanet:1445]
synonym: "Chromosome 21 Ring" EXACT [NORD:947]
synonym: "chromosome 21 ring" RELATED [GARD:0006083]
synonym: "R21" RELATED ABBREVIATION [GARD:0006083]
synonym: "Ring 21" RELATED [GARD:0006083]
synonym: "Ring chromosome 21 syndrome" RELATED [Orphanet:1445]
synonym: "Ring chromosome type 21" EXACT [MONDORULE:2, Orphanet:1445]
xref: GARD:6083 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1445", source="Orphanet:1445/attributed", source="Orphanet:1445/ntbt"}
xref: MEDGEN:419409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537109 {source="MONDO:equivalentTo", source="Orphanet:1445", source="Orphanet:1445/e"}
xref: NORD:947 {source="MONDO:NORD"}
xref: Orphanet:1445 {source="MONDO:equivalentTo"}
xref: SCTID:31325007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931422 {source="MONDO:equivalentTo", source="MEDGEN:419409", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21" xsd:anyURI {source="GARD:0006083"}

[Term]
id: MONDO:0015438
name: ring chromosome 22
def: "Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family." [GARD:0001336]
subset: gard_rare {source="GARD:1336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:948"}
subset: ordo_disorder {source="Orphanet:1446"}
subset: ordo_malformation_syndrome {source="Orphanet:1446"}
subset: orphanet_rare {source="Orphanet:1446"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chromosome 22 Ring" EXACT [NORD:948]
synonym: "chromosome 22 ring" RELATED [GARD:0001336]
synonym: "r(22) syndrome" EXACT [Orphanet:1446]
synonym: "R22" RELATED ABBREVIATION [GARD:0001336]
synonym: "Ring 22" RELATED [GARD:0001336]
synonym: "Ring chromosome 22 syndrome" RELATED [Orphanet:1446]
synonym: "Ring chromosome type 22" EXACT [MONDORULE:2, Orphanet:1446]
xref: GARD:1336 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1446", source="Orphanet:1446/attributed", source="Orphanet:1446/ntbt"}
xref: MEDGEN:539299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536795 {source="MONDO:equivalentTo", source="Orphanet:1446", source="Orphanet:1446/e"}
xref: NORD:948 {source="MONDO:NORD"}
xref: Orphanet:1446 {source="MONDO:equivalentTo"}
xref: SCTID:13555004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539299"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22" xsd:anyURI {source="GARD:0001336"}

[Term]
id: MONDO:0015439
name: ring chromosome 4
def: "Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies." [Orphanet:1447]
subset: gard_rare {source="GARD:1339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1671"}
subset: ordo_disorder {source="Orphanet:1447"}
subset: ordo_malformation_syndrome {source="Orphanet:1447"}
subset: orphanet_rare {source="Orphanet:1447"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 4 ring" RELATED [GARD:0001339]
synonym: "r(4) syndrome" EXACT [Orphanet:1447]
synonym: "R4" RELATED ABBREVIATION [GARD:0001339]
synonym: "Ring 4" RELATED [GARD:0001339]
synonym: "Ring chromosome 4 syndrome" RELATED [Orphanet:1447]
synonym: "Ring chromosome type 4" EXACT [MONDORULE:1, Orphanet:1447]
synonym: "rose cluster 4" EXACT [NCIT:C121983]
synonym: "syndrome r(4)" EXACT [Orphanet:1447]
xref: GARD:1339 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1447", source="Orphanet:1447/attributed", source="Orphanet:1447/ntbt"}
xref: MEDGEN:75571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537636 {source="MONDO:equivalentTo", source="Orphanet:1447", source="Orphanet:1447/e"}
xref: NCIT:C121983 {source="MONDO:equivalentTo"}
xref: NORD:1671 {source="MONDO:NORD"}
xref: Orphanet:1447 {source="MONDO:equivalentTo"}
xref: SCTID:81678004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75571"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr4 ! chromosome 4 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4" xsd:anyURI {source="GARD:0001339"}

[Term]
id: MONDO:0015440
name: ring chromosome 6
def: "Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported." [Orphanet:1448]
subset: gard_rare {source="GARD:6095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:958"}
subset: ordo_disorder {source="Orphanet:1448"}
subset: ordo_malformation_syndrome {source="Orphanet:1448"}
subset: orphanet_rare {source="Orphanet:1448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chromosome 6 Ring" EXACT [NORD:958]
synonym: "chromosome 6 ring" RELATED [GARD:0006095]
synonym: "R6" RELATED ABBREVIATION [GARD:0006095]
synonym: "Ring 6" RELATED [GARD:0006095]
synonym: "Ring chromosome 6 syndrome" RELATED [Orphanet:1448]
synonym: "Ring chromosome type 6" EXACT [MONDORULE:1, Orphanet:1448]
synonym: "rose cluster 6" EXACT [NCIT:C121985]
xref: GARD:6095 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1448", source="Orphanet:1448/attributed", source="Orphanet:1448/ntbt"}
xref: MEDGEN:167069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537763 {source="MONDO:equivalentTo", source="Orphanet:1448", source="Orphanet:1448/e"}
xref: NCIT:C121985 {source="MONDO:equivalentTo"}
xref: NORD:958 {source="MONDO:NORD"}
xref: Orphanet:1448 {source="MONDO:equivalentTo"}
xref: SCTID:765488003 {source="MONDO:equivalentTo"}
xref: UMLS:C0795814 {source="MONDO:equivalentTo", source="MEDGEN:167069", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr6 ! chromosome 6 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6" xsd:anyURI {source="GARD:0006095"}

[Term]
id: MONDO:0015441
name: ring chromosome 7
def: "Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis)." [Orphanet:1449]
subset: gard_rare {source="GARD:1345", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1449"}
subset: ordo_malformation_syndrome {source="Orphanet:1449"}
subset: orphanet_rare {source="Orphanet:1449"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 7 ring" RELATED [GARD:0001345]
synonym: "R7" RELATED ABBREVIATION [GARD:0001345]
synonym: "Ring 7" RELATED [GARD:0001345]
synonym: "Ring chromosome 7 syndrome" RELATED [Orphanet:1449]
synonym: "Ring chromosome type 7" EXACT [MONDORULE:1, Orphanet:1449]
synonym: "rose cluster 7" EXACT [NCIT:C121986]
xref: GARD:1345 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:1449/attributed", source="Orphanet:1449/ntbt", source="Orphanet:1449"}
xref: MEDGEN:419454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537813 {source="Orphanet:1449/e", source="MONDO:equivalentTo", source="Orphanet:1449"}
xref: NCIT:C121986 {source="MONDO:equivalentTo"}
xref: Orphanet:1449 {source="MONDO:equivalentTo"}
xref: SCTID:765489006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419454"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr7 ! chromosome 7 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7" xsd:anyURI {source="GARD:0001345"}

[Term]
id: MONDO:0015442
name: obsolete hereditary breast and ovarian cancer syndrome
is_obsolete: true
replaced_by: MONDO:0003582

[Term]
id: MONDO:0015443
name: chromosome 8-derived supernumerary ring/marker
def: "Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome." [Orphanet:1450]
subset: gard_rare {source="GARD:1347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1450"}
subset: ordo_malformation_syndrome {source="Orphanet:1450"}
subset: orphanet_rare {source="Orphanet:1450"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 8 ring" RELATED [GARD:0001347, GTR:AN0101479]
synonym: "r(8) syndrome" EXACT [Orphanet:1450]
synonym: "R8" RELATED ABBREVIATION [GARD:0001347]
synonym: "Ring 8" EXACT [GTR:AN0101480, Orphanet:1450]
synonym: "ring chromosome 8" EXACT [Orphanet:1450]
synonym: "Ring chromosome 8 syndrome" RELATED [Orphanet:1450]
synonym: "rose cluster 8" EXACT [NCIT:C121988]
synonym: "supernumerary ring/marker 8" EXACT [Orphanet:1450]
xref: GARD:1347 {source="MONDO:GARD"}
xref: GTR:AN0101479
xref: GTR:AN0101480
xref: ICD10CM:Q93.2 {source="Orphanet:1450", source="Orphanet:1450/attributed", source="Orphanet:1450/ntbt"}
xref: MEDGEN:895673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537824 {source="Orphanet:1450", source="MONDO:equivalentTo", source="Orphanet:1450/e"}
xref: NCIT:C121988 {source="MONDO:equivalentTo"}
xref: Orphanet:1450 {source="MONDO:equivalentTo"}
xref: SCTID:715983001 {source="MONDO:equivalentTo"}
xref: UMLS:C4274902 {source="MEDGEN:895673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human)

[Term]
id: MONDO:0015444
name: obsolete cleidocranial dysplasia
is_obsolete: true
replaced_by: MONDO:0007340

[Term]
id: MONDO:0015445
name: autosomal dominant coarctation of aorta
def: "Autosomal dominant form of aorta coarctation." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:18722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aorta coarctation, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "autosomal dominant aorta coarctation" EXACT [MONDO:design_pattern]
xref: GARD:18722 {source="MONDO:GARD"}
xref: ICD10CM:Q25.1 {source="Orphanet:1455/ntbt", source="Orphanet:1455"}
xref: MEDGEN:443900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531623 {source="Orphanet:1455", source="Orphanet:1455/e"}
xref: Orphanet:1455 {source="MONDO:equivalentTo"}
xref: UMLS:C2930803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443900"}
is_a: MONDO:0007345 {source="MONDO:Redundant", source="Orphanet:1455"} ! aorta coarctation
intersection_of: MONDO:0007345 ! aorta coarctation
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0015446
name: atypical coarctation of aorta
def: "Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis)." [Orphanet:1456]
subset: gard_rare {source="GARD:18723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1456"}
subset: orphanet_rare {source="Orphanet:1456"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coarctation of the abdominal aorta" EXACT [Orphanet:1456]
synonym: "mid-aortic dysplastic syndrome" EXACT [Orphanet:1456]
synonym: "mid-aortic syndrome" EXACT [Orphanet:1456]
synonym: "Midaortic syndrome" EXACT [Orphanet:1456]
synonym: "middle aortic syndrome" EXACT [Orphanet:1456]
xref: GARD:18723 {source="MONDO:GARD"}
xref: ICD10CM:Q25.1 {source="Orphanet:1456", source="Orphanet:1456/ntbt"}
xref: MEDGEN:758831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200284 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:1456 {source="MONDO:equivalentTo"}
xref: SCTID:471268000 {source="MONDO:equivalentTo"}
xref: UMLS:C3496579 {source="MEDGEN:758831", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007345 {source="Orphanet:1456"} ! aorta coarctation

[Term]
id: MONDO:0015447
name: differentiated thyroid carcinoma
def: "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass." [Orphanet:146]
subset: gard_rare {source="GARD:12027", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:146"}
subset: orphanet_rare {source="Orphanet:146"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "differentiated thyroid cancer" EXACT [NCIT:C7153]
synonym: "differentiated thyroid carcinoma" EXACT [NCIT:C7153]
synonym: "differentiated thyroid gland cancer" EXACT [NCIT:C7153]
synonym: "differentiated thyroid gland carcinoma" EXACT [NCIT:C7153]
synonym: "papillary or follicular thyroid carcinoma" EXACT [Orphanet:146]
synonym: "thyroid gland differentiated carcinoma" EXACT [NCIT:C7153]
synonym: "thyroid gland well differentiated carcinoma" EXACT [NCIT:C7153]
synonym: "well differentiated thyroid carcinoma" EXACT [NCIT:C7153]
synonym: "well differentiated thyroid gland carcinoma" EXACT [NCIT:C7153]
synonym: "well-differentiated thyroid cancer" EXACT [NCIT:C7153]
synonym: "well-differentiated thyroid carcinoma" EXACT [Orphanet:146]
xref: DOID:0080525 {source="MONDO:equivalentTo"}
xref: EFO:1002017 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12027 {source="MONDO:GARD"}
xref: ICD10CM:C73 {source="Orphanet:146/ntbt", source="Orphanet:146"}
xref: MEDGEN:277876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7153 {source="MONDO:equivalentTo"}
xref: ONCOTREE:WDTC {source="MONDO:equivalentTo"}
xref: Orphanet:146 {source="MONDO:equivalentTo"}
xref: UMLS:C1337013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277876"}
is_a: MONDO:0015075 {source="NCIT:C7153/inferred", source="Orphanet:146"} ! thyroid gland carcinoma

[Term]
id: MONDO:0015448
name: mitochondrial complex III deficiency
def: "Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms)." [Orphanet:1460]
subset: gard_rare {source="GARD:8295", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1460"}
subset: orphanet_rare {source="Orphanet:1460"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated coenzyme Q-cytochrome C reductase deficiency" EXACT [Orphanet:1460]
synonym: "isolated complex III deficiency" RELATED [Orphanet:1460]
synonym: "isolated CoQ-cytochrome C reductase deficiency" EXACT [Orphanet:1460]
synonym: "isolated mitochondrial respiratory chain complex III deficiency" EXACT [Orphanet:1460]
synonym: "isolated ubiquinone-cytochrome C reductase deficiency" EXACT [Orphanet:1460]
xref: DOID:0111139 {source="MONDO:equivalentTo"}
xref: GARD:8295 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:1460/attributed", source="Orphanet:1460/ntbt", source="Orphanet:1460"}
xref: MEDGEN:377658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1460 {source="MONDO:equivalentTo"}
xref: UMLS:C1852372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377658"}
is_a: MONDO:0000066 ! mitochondrial complex deficiency
is_a: MONDO:0004069 {source="DOID:0111139", source="Orphanet:1460/inferred"} ! inborn mitochondrial metabolism disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005750 ! mitochondrial respiratory chain complex III

[Term]
id: MONDO:0015449
name: criss-cross heart
def: "Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects." [Orphanet:1461]
subset: gard_rare {source="GARD:18724", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1461"}
subset: ordo_morphological_anomaly {source="Orphanet:1461"}
subset: orphanet_rare {source="Orphanet:1461"}
subset: rare
synonym: "criss-cross atrioventricular relationships" EXACT [Orphanet:1461]
synonym: "superoinferior ventricles" EXACT [Orphanet:1461]
synonym: "twisted atrioventricular connections" EXACT [Orphanet:1461]
xref: GARD:18724 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:1461", source="Orphanet:1461/ntbt"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003420 {source="MONDO:equivalentTo"}
xref: Orphanet:1461 {source="MONDO:equivalentTo"}
xref: SCTID:253269002 {source="MONDO:equivalentTo"}
xref: UMLS:C0010334 {source="MEDGEN:8181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019512 {source="Orphanet:1461"} ! congenital heart malformation

[Term]
id: MONDO:0015450
name: triatrial heart
def: "A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities." [NCIT:C84651]
subset: disease_grouping
subset: gard_rare {source="GARD:6194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1007"}
subset: ordo_group_of_disorders {source="Orphanet:1463"}
subset: rare
synonym: "Cor Triatriatum" EXACT [NORD:1007]
synonym: "Cor triatriatum" EXACT [Orphanet:1463]
xref: GARD:6194 {source="MONDO:GARD"}
xref: ICD10CM:Q24.2 {source="Orphanet:1463", source="Orphanet:1463/e"}
xref: ICD9:746.82 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100083 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200263 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84651 {source="MONDO:equivalentTo"}
xref: NORD:1007 {source="MONDO:NORD"}
xref: Orphanet:1463 {source="MONDO:equivalentTo"}
xref: SCTID:55510008 {source="MONDO:equivalentTo"}
xref: UMLS:C0009995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3238"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015451
name: univentricular heart
def: "Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities." [Orphanet:1464]
subset: gard_rare {source="GARD:18725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1464"}
subset: ordo_morphological_anomaly {source="Orphanet:1464"}
subset: orphanet_rare {source="Orphanet:1464"}
subset: rare
synonym: "Double inlet left ventricle" EXACT [Orphanet:1464]
xref: GARD:18725 {source="MONDO:GARD"}
xref: ICD10CM:Q20.4 {source="Orphanet:1464", source="Orphanet:1464/e"}
xref: icd11.foundation:1786413029 {source="Orphanet:1464", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10045545 {source="Orphanet:1464", source="Orphanet:1464/e"}
xref: MEDGEN:488862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000080039 {source="MONDO:equivalentTo"}
xref: NANDO:1200704 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200250 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:1464 {source="MONDO:equivalentTo"}
xref: SCTID:253283000 {source="MONDO:equivalentTo"}
xref: UMLS:C0344622 {source="MEDGEN:488862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019820 {source="Orphanet:1464"} ! univentricular cardiopathy

[Term]
id: MONDO:0015452
name: Coffin-Siris syndrome
def: "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." [Orphanet:1465]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:984"}
subset: ordo_disorder {source="Orphanet:1465"}
subset: ordo_malformation_syndrome {source="Orphanet:1465"}
subset: orphanet_rare {source="Orphanet:1465"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Coffin-Siris syndrome" EXACT CLINGEN_LABEL []
synonym: "CSS" EXACT ABBREVIATION [Orphanet:1465]
synonym: "dwarfism-onychodysplasia" EXACT [DOID:1925]
synonym: "fifth digit syndrome" EXACT [DOID:1925]
synonym: "intellectual disability with absent fifth fingernail and terminal phalanx" RELATED [GARD:0006124]
synonym: "short stature-onychodysplasia." EXACT [DOID:1925]
xref: DOID:1925 {source="MONDO:equivalentTo"}
xref: GARD:6124 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:1465/attributed", source="Orphanet:1465/ntbt", source="Orphanet:1465"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536436 {source="Orphanet:1465", source="MONDO:equivalentTo", source="Orphanet:1465/e", source="DOID:1925"}
xref: NANDO:1200670 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200977 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35321 {source="MONDO:equivalentTo", source="DOID:1925"}
xref: NORD:984 {source="MONDO:NORD"}
xref: OMIMPS:135900 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1465 {source="MONDO:equivalentTo"}
xref: SCTID:10007009 {source="MONDO:equivalentTo", source="DOID:1925"}
xref: UMLS:C0265338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75565"}
is_a: MONDO:0002254 {source="DOID:1925", source="MONDO:Redundant", source="NCIT:C35321"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015159 {source="Orphanet:1465"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: disease_has_feature HP:0008398 ! Hypoplastic fifth fingernail
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1465", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019054 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital limb malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:135900"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015453
name: Cogan syndrome
def: "Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases." [Orphanet:1467]
subset: gard_rare {source="GARD:1421", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1467"}
subset: orphanet_rare {source="Orphanet:1467"}
subset: rare
synonym: "Cogan syndrome" EXACT [GARD:0001421]
synonym: "Cogan's syndrome" EXACT [DOID:0060216, ICD10CM:H16.32]
synonym: "diffuse interstitual keratitis" EXACT [DOID:0060216, ICD10CM:H16.32]
xref: DOID:0060216 {source="MONDO:equivalentTo"}
xref: GARD:1421 {source="MONDO:GARD"}
xref: ICD10CM:H16.3 {source="Orphanet:1467", source="Orphanet:1467/ntbt"}
xref: ICD10CM:H16.32 {source="DOID:0060216"}
xref: MedDRA:10056667 {source="Orphanet:1467", source="Orphanet:1467/e"}
xref: MEDGEN:82871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055952 {source="MONDO:equivalentTo", source="Orphanet:1467", source="DOID:0060216", source="Orphanet:1467/e"}
xref: Orphanet:1467 {source="MONDO:equivalentTo", source="DOID:0060216"}
xref: SCTID:193785001 {source="DOID:0060216"}
xref: SCTID:231906002 {source="DOID:0060216"}
xref: SCTID:26018001 {source="DOID:0060216"}
xref: SCTID:405810005 {source="MONDO:equivalentTo", source="DOID:0060216"}
xref: UMLS:C0271270 {source="MEDGEN:82871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder
is_a: MONDO:0007179 {source="Orphanet:1467"} ! autoimmune disease
is_a: MONDO:0024623 {source="Orphanet:1467"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare

[Term]
id: MONDO:0015454
name: multiple carboxylase deficiency
def: "Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." [Orphanet:148]
subset: disease_grouping
subset: gard_rare {source="GARD:3824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:148"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCD" EXACT ABBREVIATION [Orphanet:148]
synonym: "multiple carboxylase deficiency" EXACT [MONDO:0004610]
xref: DOID:857 {source="MONDO:equivalentTo"}
xref: GARD:3824 {source="MONDO:GARD"}
xref: ICD10CM:D81.81 {source="DOID:857"}
xref: ICD10CM:D81.819 {source="DOID:857", source="MONDO:equivalentTo"}
xref: ICD10CM:E53.8 {source="Orphanet:148", source="Orphanet:148/attributed", source="Orphanet:148/ntbt"}
xref: MedDRA:10028176 {source="Orphanet:148", source="Orphanet:148/e"}
xref: MEDGEN:10119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009100 {source="Orphanet:148", source="DOID:857", source="MONDO:equivalentTo", source="Orphanet:148/e"}
xref: NANDO:1200820 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200500 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:148 {source="MONDO:equivalentTo"}
xref: SCTID:62151000119109 {source="DOID:857"}
xref: UMLS:C0026755 {source="MEDGEN:10119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0019214 {source="DOID:857", source="MESH:D009100"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0019215 {source="Orphanet:148"} ! classic organic aciduria
is_a: MONDO:0020698 ! inborn error of biotin metabolism
relationship: disease_has_basis_in_disruption_of GO:0006768 ! biotin metabolic process
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0015455
name: gonococcal conjunctivitis
def: "Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery." [NCIT:C116816]
subset: gard_rare {source="GARD:2546", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1482"}
subset: orphanet_rare {source="Orphanet:1482"}
subset: rare
synonym: "conjunctivitis gonococcal" EXACT [NCIT:C116816]
synonym: "gonococcal ophthalmia neonatorum" EXACT [NCIT:C116816]
xref: GARD:2546 {source="MONDO:GARD"}
xref: ICD10CM:A54.31 {source="MONDO:equivalentTo"}
xref: ICD10EXP:A54.3+ {source="Orphanet:1482/e", source="Orphanet:1482"}
xref: ICD10EXP:H13.1* {source="Orphanet:1482/e", source="Orphanet:1482"}
xref: MEDGEN:1830271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116816 {source="MONDO:equivalentTo"}
xref: Orphanet:1482 {source="MONDO:equivalentTo"}
xref: SCTID:231858009 {source="MONDO:equivalentTo"}
xref: UMLS:C5779547 {source="MEDGEN:1830271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003799 {source="MONDO:Redundant", source="NCIT:C116816/inferred"} ! conjunctivitis
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder
is_a: MONDO:0006668 {source="MONDO:Redundant", source="NCIT:C116816"} ! bacterial conjunctivitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
intersection_of: disease_has_inflammation_site UBERON:0001811 ! conjunctiva
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis" xsd:anyURI {source="GARD:0002546"}

[Term]
id: MONDO:0015456
name: obsolete whooping cough
is_obsolete: true
replaced_by: MONDO:0005077

[Term]
id: MONDO:0015457
name: corpus callosum agenesis-double urinary collecting system syndrome
subset: ordo_malformation_syndrome {source="Orphanet:1492"}
synonym: "agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies" RELATED [GARD:0000852]
synonym: "Ben Ari Shuper Mimouni syndrome" RELATED [GARD:0000852]
synonym: "Ben Ari-Shuper-Mimouni syndrome" EXACT [GARD:0001536, Orphanet:1492]
synonym: "corpus callosum agenesis - double urinary collecting system" RELATED [GARD:0001536]
synonym: "corpus callosum agenesis double urinary collecting" RELATED [GARD:0001536]
synonym: "corpus callosum agenesis-double urinary collecting system syndrome" EXACT [GARD:0001536]
xref: MEDGEN:419659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535427 {source="MONDO:equivalentTo"}
xref: Orphanet:1492 {source="MONDO:equivalentObsolete", source="GARD:0001536"}
xref: UMLS:C2930897 {source="MEDGEN:419659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1536/corpus-callosum-agenesis-double-urinary-collecting" xsd:anyURI {source="GARD:0001536"}

[Term]
id: MONDO:0015458
name: intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
def: "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive." [Orphanet:1495]
subset: gard_rare {source="GARD:12487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1495"}
subset: ordo_malformation_syndrome {source="Orphanet:1495"}
subset: orphanet_rare {source="Orphanet:1495"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Da Silva syndrome" EXACT [Orphanet:1495]
synonym: "intellectual disability - hypoplastic corpus callosum - preauricular tag" RELATED [GARD:0012487]
xref: GARD:12487 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1495", source="Orphanet:1495/attributed", source="Orphanet:1495/ntbt"}
xref: MEDGEN:928199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1495 {source="MONDO:equivalentTo"}
xref: SCTID:722455002 {source="MONDO:equivalentTo"}
xref: UMLS:C4302530 {source="MEDGEN:928199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1495"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1495", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015459
name: nasopharyngeal carcinoma
def: "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma." [NCIT:C3871]
subset: gard_rare {source="GARD:7163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:150"}
subset: orphanet_rare {source="Orphanet:150"}
subset: rare
synonym: "cancer of nasopharynx" BROAD [NCIT:C3871]
synonym: "cancer of the nasopharynx" BROAD [NCIT:C3871]
synonym: "carcinoma of nasopharynx" EXACT [DOID:9261, MONDO:patterns/carcinoma, NCIT:C3871]
synonym: "carcinoma of the nasopharynx" EXACT [NCIT:C3871]
synonym: "malignant nasopharyngeal tumor" BROAD [DOID:9261, NCIT:C9321]
synonym: "malignant nasopharyngeal tumour" BROAD OMO:0003005 []
synonym: "malignant neoplasm of anterior wall of nasopharynx" BROAD [DOID:9261]
synonym: "malignant neoplasm of lateral wall of nasopharynx" BROAD [DOID:9261]
synonym: "malignant neoplasm of nasopharyngeal wall" BROAD [DOID:9261]
synonym: "malignant neoplasm of nasopharyngeal wall NOS" BROAD EXCLUDE [DOID:9261]
synonym: "malignant neoplasm of nasopharynx" BROAD [DOID:9261, ICD9CM:147, MTH:NOCODE]
synonym: "malignant neoplasm of nasopharynx (disorder) [ambiguous]" BROAD [DOID:9261]
synonym: "malignant neoplasm of other specified sites of nasopharynx" BROAD [DOID:9261]
synonym: "malignant neoplasm of posterior wall of nasopharynx" BROAD [DOID:9261]
synonym: "malignant neoplasm of roof of nasopharynx" BROAD [DOID:9261]
synonym: "malignant neoplasm of superior wall of nasopharynx" BROAD [DOID:9261]
synonym: "malignant tumor of anterior wall of nasopharynx" BROAD [DOID:9261, MTH:U001027]
synonym: "malignant tumor of lateral wall of nasopharynx" BROAD [DOID:9261, MTH:U003238]
synonym: "malignant tumor of posterior wall of nasopharynx" BROAD [DOID:9261, MTH:U001026]
synonym: "malignant tumour of anterior wall of nasopharynx" BROAD OMO:0003005 []
synonym: "malignant tumour of lateral wall of nasopharynx" BROAD OMO:0003005 []
synonym: "malignant tumour of posterior wall of nasopharynx" BROAD OMO:0003005 []
synonym: "nasopharyngeal cancer" BROAD [NCIT:C3871]
synonym: "nasopharyngeal carcinoma" EXACT [DOID:9261, NCIT:C3871]
synonym: "nasopharyngeal throat cancer" BROAD [NCIT:C3871]
synonym: "nasopharynx cancer" BROAD EXCLUDE [DOID:9261]
synonym: "nasopharynx carcinoma" EXACT [MONDO:patterns/location]
synonym: "NPC" EXACT ABBREVIATION [NCIT:C3871]
synonym: "primary malignant neoplasm of anterior wall of nasopharynx" BROAD [DOID:9261]
synonym: "squamous cell carcinoma of the nasopharynx" EXACT [Orphanet:150]
xref: DOID:9261 {source="MONDO:equivalentTo"}
xref: GARD:7163 {source="MONDO:GARD"}
xref: ICD10CM:C11 {source="DOID:9261"}
xref: ICD10CM:C11.0 {source="DOID:9261", source="Orphanet:150", source="Orphanet:150/btnt"}
xref: ICD10CM:C11.1 {source="DOID:9261", source="Orphanet:150", source="Orphanet:150/btnt"}
xref: ICD10CM:C11.2 {source="DOID:9261", source="Orphanet:150", source="Orphanet:150/btnt"}
xref: ICD10CM:C11.3 {source="DOID:9261", source="Orphanet:150", source="Orphanet:150/btnt"}
xref: ICD10CM:C11.9 {source="DOID:9261"}
xref: ICD9:147 {source="DOID:9261"}
xref: ICD9:147.0 {source="DOID:9261"}
xref: ICD9:147.1 {source="DOID:9261"}
xref: ICD9:147.2 {source="DOID:9261", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:147.3 {source="DOID:9261"}
xref: ICD9:147.9 {source="DOID:9261"}
xref: MedDRA:10028793 {source="Orphanet:150", source="Orphanet:150/e"}
xref: MEDGEN:419909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538339 {source="MONDO:equivalentObsolete", source="Orphanet:150", source="Orphanet:150/e"}
xref: MESH:D00007727 {xref="https://github.com/monarch-initiative/mondo/issues/2068", source="MONDO:equivalentTo"}
xref: MESH:D000077274 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: MESH:D009303 {source="DOID:9261"}
xref: NCIT:C3871 {source="MONDO:equivalentTo"}
xref: NCIT:C9321 {source="DOID:9261"}
xref: ONCOTREE:NPC {source="MONDO:equivalentTo"}
xref: Orphanet:150 {source="DOID:9261", source="MONDO:equivalentTo"}
xref: SCTID:187692001 {source="DOID:9261"}
xref: SCTID:187693006 {source="DOID:9261"}
xref: SCTID:187696003 {source="DOID:9261"}
xref: SCTID:187699005 {source="DOID:9261"}
xref: SCTID:187700006 {source="DOID:9261"}
xref: SCTID:187704002 {source="DOID:9261"}
xref: SCTID:187707009 {source="DOID:9261"}
xref: SCTID:363397008 {source="DOID:9261"}
xref: SCTID:363398003 {source="DOID:9261", source="MONDO:equivalentTo"}
xref: SCTID:709031009 {source="DOID:9261"}
xref: SCTID:93861003 {source="DOID:9261"}
xref: SCTID:93919005 {source="DOID:9261"}
xref: SCTID:93970001 {source="DOID:9261"}
xref: SCTID:94078000 {source="DOID:9261"}
xref: UMLS:C2931822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419909"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C3871/inferred"} ! head and neck carcinoma
is_a: MONDO:0004821 {source="DOID:9261", source="MESH:C538339/inferred", source="MONDO:Redundant", source="NCIT:C3871/inferred"} ! nasopharyngeal disorder
is_a: MONDO:0005517 {source="DOID:9261", source="MESH:C538339/inferred", source="MONDO:0015459/inferred", source="MONDO:Redundant", source="NCIT:C3871/inferred"} ! pharynx cancer
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C3871/inferred"} ! head and neck cancer
is_a: MONDO:0017344 {source="Orphanet:150"} ! Epstein-Barr virus-associated carcinoma
is_a: MONDO:0020641 {source="Orphanet:150"} ! respiratory tract neoplasm
is_a: MONDO:0021315 {source="MONDO:Redundant", source="NCIT:C3871"} ! malignant tumor of nasopharynx
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C3871"} ! carcinoma of pharynx
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx
relationship: disease_arises_from_structure UBERON:0001951 {source="NCIT:C3871"} ! epithelium of nasopharynx
relationship: disease_has_location UBERON:0001728 {source="NCIT:C3871"} ! nasopharynx
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020034"} ! rare

[Term]
id: MONDO:0015460
name: obsolete adrenocortical carcinoma
def: "OBSOLETE. A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." [NCIT:C9325]
is_obsolete: true
replaced_by: MONDO:0006639

[Term]
id: MONDO:0015461
name: short rib-polydactyly syndrome
def: "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." [Orphanet:1505]
subset: disease_grouping
subset: gard_rare {source="GARD:18726", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1505"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18726 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:1505", source="Orphanet:1505/attributed", source="Orphanet:1505/ntbt"}
xref: icd11.foundation:960900212 {source="MONDO:equivalentTo", source="Orphanet:1505"}
xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012779 {source="Orphanet:1505/e", source="MONDO:equivalentTo", source="Orphanet:1505"}
xref: NCIT:C85065 {source="MONDO:equivalentTo"}
xref: Orphanet:1505 {source="MONDO:equivalentTo"}
xref: SCTID:205484001 {source="MONDO:equivalentTo"}
xref: UMLS:C0036996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11412"}
is_a: MONDO:0002254 {source="NCIT:C85065"} ! syndromic disease
is_a: MONDO:0005087 {source="MONDO:Entailed"} ! respiratory system disorder
is_a: MONDO:0015929 {source="Orphanet:1505"} ! thoracic malformation
is_a: MONDO:0019691 {source="Orphanet:1505"} ! short rib dysplasia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare

[Term]
id: MONDO:0015462
name: thin ribs-tubular bones-dysmorphism syndrome
subset: gard_rare {source="GARD:18727", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1506"}
subset: ordo_malformation_syndrome {source="Orphanet:1506"}
subset: orphanet_rare {source="Orphanet:1506"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sharma-Kapoor-Ramji syndrome" EXACT [Orphanet:1506]
xref: GARD:18727 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:1506/attributed", source="Orphanet:1506/ntbt", source="Orphanet:1506"}
xref: MEDGEN:419105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537595 {source="MONDO:equivalentTo"}
xref: Orphanet:1506 {source="MONDO:equivalentTo"}
xref: UMLS:C2931543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419105"}
is_a: MONDO:0018230 {source="PMID:2400886", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015463
name: craniodigital syndrome-intellectual disability syndrome
def: "Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." [Orphanet:1514]
subset: gard_rare {source="GARD:4776", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1514"}
subset: ordo_malformation_syndrome {source="Orphanet:1514"}
subset: orphanet_rare {source="Orphanet:1514"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniodigital syndrome with intellectual disability" RELATED [GARD:0004776, MESH:C537528]
synonym: "craniodigital syndrome with mental retardation" RELATED DEPRECATED [GARD:0004776, MESH:C537528]
synonym: "craniodigital syndrome-intellectual disability, Scott type" RELATED [GARD:0004776, MESH:C537528]
synonym: "craniodigital syndrome-mental retardation, Scott type" RELATED DEPRECATED [GARD:0004776, MESH:C537528]
synonym: "craniodigital-intellectual disability syndrome" RELATED [Orphanet:1514]
synonym: "Scott Bryant Graham syndrome" RELATED [GARD:0004776]
synonym: "Scott craniodigital syndrome" EXACT [Orphanet:1514]
synonym: "Scott craniodigital syndrome with intellectual disability" RELATED [GARD:0004776, MESH:C537528]
synonym: "Scott craniodigital syndrome with mental retardation" RELATED DEPRECATED [GARD:0004776, MESH:C537528]
synonym: "Scott-Bryant-Graham syndrome" EXACT [Orphanet:1514]
xref: GARD:4776 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1514", source="Orphanet:1514/attributed", source="Orphanet:1514/ntbt"}
xref: MEDGEN:333293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537528 {source="MONDO:equivalentTo"}
xref: OMIM:312860 {source="GARD:0004776", source="MONDO:equivalentObsolete", source="Orphanet:1514", source="Orphanet:1514/e"}
xref: Orphanet:1514 {source="GARD:0004776", source="MONDO:equivalentTo"}
xref: SCTID:763665007 {source="MONDO:equivalentTo"}
xref: UMLS:C1839311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333293"}
is_a: MONDO:0015159 {source="Orphanet:1514"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1514", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4776/scott-bryant-graham-syndrome" xsd:anyURI {source="GARD:0004776"}

[Term]
id: MONDO:0015464
name: craniofrontonasal dysplasia-Poland anomaly syndrome
def: "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far." [Orphanet:1521]
subset: gard_rare {source="GARD:428", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1521"}
subset: ordo_malformation_syndrome {source="Orphanet:1521"}
subset: orphanet_rare {source="Orphanet:1521"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Webster-Deming syndrome" EXACT [Orphanet:1521]
xref: GARD:428 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1521/attributed", source="Orphanet:1521/ntbt", source="Orphanet:1521"}
xref: MEDGEN:929528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1521 {source="MONDO:equivalentTo"}
xref: SCTID:720757001 {source="MONDO:equivalentTo"}
xref: UMLS:C4303859 {source="MEDGEN:929528", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015856 {source="Orphanet:1521"} ! syndromic breast hypoplasia/aplasia
is_a: MONDO:0016643 {source="Orphanet:1521"} ! frontonasal dysplasia

[Term]
id: MONDO:0015465
name: craniometaphyseal dysplasia
def: "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones." [Orphanet:1522]
subset: gard_rare {source="GARD:15013", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1013"}
subset: ordo_disorder {source="Orphanet:1522"}
subset: ordo_malformation_syndrome {source="Orphanet:1522"}
subset: orphanet_rare {source="Orphanet:1522"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080033 {source="MONDO:equivalentTo"}
xref: GARD:15013 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:1522", source="Orphanet:1522/attributed", source="Orphanet:1522/ntbt"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201366 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1013 {source="MONDO:NORD"}
xref: OMIMPS:123000 {source="MONDO:equivalentTo"}
xref: Orphanet:1522 {source="DOID:0080033", source="MONDO:equivalentTo"}
xref: SCTID:36601008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82702"}
is_a: MONDO:0002933 {source="DOID:0080033"} ! osteosclerosis
is_a: MONDO:0005381 {source="Orphanet:1522"} ! bone disorder
relationship: disease_has_feature HP:0011001 ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:1522", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:123000"} ! inherited

[Term]
id: MONDO:0015466
name: cranio-osteoarthropathy
def: "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." [Orphanet:1525]
subset: gard_rare {source="GARD:1564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1525"}
subset: ordo_malformation_syndrome {source="Orphanet:1525"}
subset: orphanet_rare {source="Orphanet:1525"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cranio osteoarthropathy" RELATED [GARD:0001564]
synonym: "Currarino disease" EXACT [Orphanet:1525]
synonym: "Currarino idiopathic osteoarthropathy" EXACT [Orphanet:1525]
synonym: "Reginato-Schiapachasse syndrome" EXACT [Orphanet:1525]
xref: GARD:1564 {source="MONDO:GARD"}
xref: ICD10CM:M89.4 {source="Orphanet:1525", source="Orphanet:1525/attributed", source="Orphanet:1525/ntbt"}
xref: MEDGEN:394824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1525 {source="MONDO:equivalentTo"}
xref: SCTID:720753002 {source="MONDO:equivalentTo"}
xref: UMLS:C2678439 {source="MEDGEN:394824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016620 {source="Orphanet:1525"} ! primary hypertrophic osteoarthropathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy" xsd:anyURI {source="GARD:0001564"}

[Term]
id: MONDO:0015467
name: craniosynostosis, Philadelphia type
def: "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A." [Orphanet:1527]
subset: gard_rare {source="GARD:1601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1527"}
subset: ordo_malformation_syndrome {source="Orphanet:1527"}
subset: orphanet_rare {source="Orphanet:1527"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:1601 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1527", source="Orphanet:1527/attributed", source="Orphanet:1527/ntbt"}
xref: MEDGEN:321988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563368 {source="MONDO:equivalentTo"}
xref: Orphanet:1527 {source="MONDO:equivalentTo"}
xref: SCTID:720818003 {source="MONDO:equivalentTo"}
xref: UMLS:C1832590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321988"}
is_a: MONDO:0015338 {source="Orphanet:1527"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:  8882401", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015468
name: craniosynostosis-cataract syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:1530"}
subset: rare
xref: ICD10CM:Q75.0 {source="Orphanet:1530", source="Orphanet:1530/attributed", source="Orphanet:1530/ntbt"}
xref: Orphanet:1530 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0015338 {source="Orphanet:1530"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:12407713", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0015469
name: craniosynostosis
def: "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." [Orphanet:1531]
subset: disease_grouping
subset: gard_rare {source="GARD:6209", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:1531"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniosynostosis syndrome" EXACT [NCIT:C84655]
synonym: "CSO" RELATED ABBREVIATION [GARD:0006209]
synonym: "premature closure of cranial sutures" EXACT [DOID:2340]
xref: DOID:2340 {source="MONDO:equivalentTo"}
xref: GARD:6209 {source="MONDO:GARD"}
xref: ICD10CM:Q75.0 {source="DOID:2340", source="Orphanet:1531", source="MONDO:equivalentTo", source="Orphanet:1531/specific", source="Orphanet:1531/e"}
xref: icd11.foundation:458033798 {source="Orphanet:1531", source="MONDO:equivalentTo"}
xref: MedDRA:10048907 {source="Orphanet:1531", source="Orphanet:1531/e"}
xref: MedDRA:10049889 {source="Orphanet:1531", source="Orphanet:1531/e"}
xref: MEDGEN:1163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003398 {source="DOID:2340", source="Orphanet:1531", source="MONDO:equivalentTo", source="Orphanet:1531/e"}
xref: NANDO:2100227 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84655 {source="DOID:2340", source="MONDO:equivalentTo"}
xref: OMIMPS:123100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1531 {source="DOID:2340", source="MONDO:equivalentTo"}
xref: SCTID:205411004 {source="DOID:2340"}
xref: SCTID:205414007 {source="DOID:2340"}
xref: SCTID:57219006 {source="DOID:2340"}
xref: UMLS:C0010278 {source="MEDGEN:1163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001411 {source="DOID:2340", source="MESH:D003398"} ! synostosis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:123100"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015470
name: obsolete familial isolated dilated cardiomyopathy
def: "OBSOLETE. Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia." [Orphanet:154]
subset: clingen {source="MONDO:CLINGEN"}
subset: ordo_disorder {source="Orphanet:154"}
subset: otar {source="MONDO:OTAR"}
synonym: "familial isolated dilated cardiomyopathy" EXACT CLINGEN_LABEL []
synonym: "familial or idiopathic dilated cardiomyopathy" EXACT [Orphanet:154]
xref: GARD:2905 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I42.0 {source="Orphanet:154/attributed", source="Orphanet:154/ntbt", source="Orphanet:154"}
xref: Orphanet:154 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0016147 {source="Orphanet:154", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of dystrophin
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015471
name: benign focal seizures of adolescence
subset: gard_rare {source="GARD:18728", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1544"}
subset: orphanet_rare {source="Orphanet:1544"}
subset: rare
synonym: "adolescent benign focal crisis" EXACT [Orphanet:1544]
xref: GARD:18728 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:1544", source="Orphanet:1544/ntbt"}
xref: MEDGEN:896830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1544 {source="MONDO:equivalentTo"}
xref: SCTID:715425000 {source="MONDO:equivalentTo"}
xref: UMLS:C4275141 {source="MEDGEN:896830", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020073 {source="Orphanet:1544"} ! adolescent-onset epilepsy syndrome

[Term]
id: MONDO:0015472
name: obsolete cryptococcosis
is_obsolete: true
replaced_by: MONDO:0005724

[Term]
id: MONDO:0015473
name: cryptorchidism-arachnodactyly-intellectual disability syndrome
def: "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970." [Orphanet:1548]
subset: gard_rare {source="GARD:860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1548"}
subset: ordo_malformation_syndrome {source="Orphanet:1548"}
subset: orphanet_rare {source="Orphanet:1548"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cryptorchidism arachnodactyly intellectual deficit" RELATED [GARD:0000860]
synonym: "Van Benthem-Driessen-Hanveld syndrome" EXACT [Orphanet:1548]
xref: GARD:860 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1548/attributed", source="Orphanet:1548/ntbt", source="Orphanet:1548"}
xref: MEDGEN:1647147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1548 {source="MONDO:equivalentTo"}
xref: UMLS:C4707233 {source="MEDGEN:1647147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1548"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1548", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015474
name: cryptosporidiosis
def: "Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea." [MESH:D003457]
subset: otar {source="MONDO:OTAR"}
synonym: "Cryptosporidial gastroenteritis" EXACT [DOID:1733]
synonym: "Cryptosporidioses" RELATED [MESH:D003457]
synonym: "Cryptosporidium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cryptosporidium disease or disorder" EXACT []
synonym: "Cryptosporidium infection" EXACT [NCIT:C128408]
synonym: "Cryptosporidium infectious disease" EXACT []
synonym: "infection by Cryptosporidium" EXACT [DOID:1733]
synonym: "intestinal cryptosporidiosis" EXACT [DOID:1733, ICD9CM:007.4]
xref: DOID:1733 {source="MONDO:equivalentTo"}
xref: ICD10CM:A07.2 {source="Orphanet:1549/e", source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549"}
xref: ICD9:007.4 {source="DOID:1733"}
xref: MedDRA:10011502 {source="Orphanet:1549/e", source="Orphanet:1549"}
xref: MEDGEN:41362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003457 {source="Orphanet:1549/e", source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549"}
xref: NCIT:C128408 {source="MONDO:equivalentTo"}
xref: Orphanet:1549 {source="MONDO:equivalentObsolete"}
xref: SCTID:186126003 {source="DOID:1733"}
xref: SCTID:240370009 {source="DOID:1733"}
xref: SCTID:58777003 {source="DOID:1733"}
xref: SCTID:66160001 {source="MONDO:equivalentTo"}
xref: UMLS:C0010418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41362"}
is_a: MONDO:0002428 {source="DOID:1733/inferred", source="MESH:D003457/inferred", source="NCIT:C128408"} ! protozoa infectious disease
is_a: MONDO:0005135 {source="MONDO:Entailed", source="Orphanet:1549"} ! parasitic infectious disease
is_a: MONDO:0005707 {source="DOID:1733", source="MESH:D003457"} ! coccidiosis
is_a: MONDO:0024270 {source="MESH:D003457", source="MONDO:Entailed"} ! parasitic intestinal disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5806 ! Cryptosporidium
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_infectious_agent NCBITaxon:5807 {source="MONDO:Wikidata"} ! Cryptosporidium parvum
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6219/cryptosporidiosis" xsd:anyURI {source="GARD:0006219"}

[Term]
id: MONDO:0015475
name: obsolete rare head and neck malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:155832"}
xref: GARD:19972 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:155832 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015476
name: cysts and fistulae of the face and oral cavity
subset: disease_grouping
subset: gard_rare {source="GARD:19973", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:155835"}
subset: rare
xref: GARD:19973 {source="MONDO:GARD"}
xref: ICD10CM:Q18.0 {source="Orphanet:155835", source="Orphanet:155835/ntbt"}
xref: MEDGEN:1843131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:155835 {source="MONDO:equivalentTo"}
xref: UMLS:C5680632 {source="MEDGEN:1843131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015477
name: pinnae fistula or cyst
def: "Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated." [Orphanet:155838]
subset: gard_rare {source="GARD:19974", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:155838"}
subset: ordo_morphological_anomaly {source="Orphanet:155838"}
subset: orphanet_rare {source="Orphanet:155838"}
subset: rare
xref: GARD:19974 {source="MONDO:GARD"}
xref: ICD10CM:Q18.8 {source="Orphanet:155838/ntbt", source="Orphanet:155838"}
xref: MEDGEN:1842452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:155838 {source="MONDO:equivalentTo"}
xref: UMLS:C5680633 {source="MEDGEN:1842452", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015476 {source="Orphanet:155838"} ! cysts and fistulae of the face and oral cavity

[Term]
id: MONDO:0015478
name: obsolete paramedian facial cleft
subset: ordo_group_of_disorders {source="Orphanet:155867"}
synonym: "Tessier number 1-1 and 2-12 facial cleft" EXACT [Orphanet:155867]
xref: GARD:19975 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q18.8 {source="Orphanet:155867/ntbt", source="Orphanet:155867"}
xref: Orphanet:155867 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015479
name: submucosal cleft palate
subset: gard_rare {source="GARD:19976", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:155878"}
subset: ordo_morphological_anomaly {source="Orphanet:155878"}
subset: orphanet_rare {source="Orphanet:155878"}
subset: rare
xref: GARD:19976 {source="MONDO:GARD"}
xref: ICD10CM:Q35.9 {source="Orphanet:155878/ntbt", source="Orphanet:155878"}
xref: MEDGEN:98472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:155878 {source="MONDO:equivalentTo"}
xref: UMLS:C0432103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98472"}
is_a: MONDO:0016064 {source="Orphanet:155878"} ! cleft palate

[Term]
id: MONDO:0015480
name: coloboma of superior eyelid
def: "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome." [Orphanet:155884]
comment: Editor note: TODO axioms
subset: gard_rare {source="GARD:19977", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:155884"}
subset: ordo_morphological_anomaly {source="Orphanet:155884"}
subset: orphanet_rare {source="Orphanet:155884"}
subset: rare
synonym: "superior palpebral coloboma" EXACT [Orphanet:155884]
xref: GARD:19977 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:155884/ntbt", source="Orphanet:155884"}
xref: MEDGEN:350283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:155884 {source="MONDO:equivalentTo"}
xref: SCTID:763132003 {source="MONDO:equivalentTo"}
xref: UMLS:C1863872 {source="MEDGEN:350283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015411 {source="PMID:32644331 PMID:2541995", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft
is_a: MONDO:0020357 {source="https://orcid.org/0000-0002-5002-8648", source="https://orcid.org/0009-0001-6494-4831"} ! coloboma of eyelid
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015481
name: coloboma of inferior eyelid
def: "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome." [Orphanet:155889]
comment: Editor note: TODO axioms
subset: gard_rare {source="GARD:19978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:155889"}
subset: ordo_morphological_anomaly {source="Orphanet:155889"}
subset: orphanet_rare {source="Orphanet:155889"}
subset: rare
synonym: "Inferior palpebral coloboma" EXACT [Orphanet:155889]
xref: GARD:19978 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:155889/ntbt", source="Orphanet:155889"}
xref: MEDGEN:373417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:155889 {source="MONDO:equivalentTo"}
xref: SCTID:763133008 {source="MONDO:equivalentTo"}
xref: UMLS:C1837826 {source="MEDGEN:373417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015411 {source="PMID:32644331", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft
is_a: MONDO:0020357 {source="https://orcid.org/0000-0002-5002-8648", source="https://orcid.org/0009-0001-6494-4831"} ! coloboma of eyelid
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015482
name: obsolete otomandibular dysplasia
subset: ordo_group_of_disorders {source="Orphanet:155896"}
xref: GARD:19979 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:424177015 {source="MONDO:obsoleteEquivalent", source="Orphanet:155896", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:155896 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015483
name: mandibulofacial dysostosis
def: "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" [MESH:D008342]
subset: disease_grouping
subset: gard_rare {source="GARD:19980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:155899"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral and symmetric oto-mandibular dysplasia" EXACT [Orphanet:155899]
xref: GARD:19980 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:155899/specific", source="Orphanet:155899", source="Orphanet:155899/e"}
xref: MedDRA:10051456 {source="Orphanet:155899", source="Orphanet:155899/e"}
xref: MESH:D008342 {source="MONDO:equivalentTo", source="Orphanet:155899", source="Orphanet:155899/e"}
xref: Orphanet:155899 {source="MONDO:equivalentTo"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015484
name: cysticercosis
def: "Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs." [Orphanet:1560]
subset: gard_rare {source="GARD:8194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1027"}
subset: ordo_disorder {source="Orphanet:1560"}
subset: orphanet_rare {source="Orphanet:1560"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intestinal taenia solium infection" EXACT [DOID:10079]
synonym: "neurocysticercosis" RELATED [DOID:10079]
synonym: "pork tapeworm infection" EXACT [DOID:10079]
synonym: "tapeworm infection: [intestinal taenia solium] or [pork]" EXACT [DOID:10079]
synonym: "tapeworm infection: intestinal taenia solum" EXACT [DOID:10079]
synonym: "tapeworm infection: pork" EXACT [DOID:10079]
synonym: "tenia solium infectious disease" EXACT [DOID:10079]
xref: DOID:10079 {source="MONDO:equivalentTo", source="EFO:0007231"}
xref: EFO:0007231 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8194 {source="MONDO:GARD"}
xref: ICD10CM:B69 {source="MONDO:equivalentTo", source="DOID:10079"}
xref: ICD10CM:B69.0 {source="Orphanet:1560", source="Orphanet:1560/btnt"}
xref: ICD10CM:B69.1 {source="Orphanet:1560", source="Orphanet:1560/btnt"}
xref: ICD10CM:B69.8 {source="Orphanet:1560", source="Orphanet:1560/btnt"}
xref: ICD10CM:B69.9 {source="Orphanet:1560", source="Orphanet:1560/btnt", source="DOID:10079"}
xref: ICD9:123.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10079"}
xref: MedDRA:10011775 {source="Orphanet:1560", source="Orphanet:1560/e"}
xref: MEDGEN:4122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003551 {source="Orphanet:1560", source="MONDO:equivalentTo", source="Orphanet:1560/e", source="EFO:0007231", source="DOID:10079"}
xref: NCIT:C34520 {source="MONDO:equivalentTo", source="DOID:10079"}
xref: NORD:1027 {source="MONDO:NORD"}
xref: Orphanet:1560 {source="MONDO:equivalentTo"}
xref: SCTID:105684008 {source="DOID:10079"}
xref: SCTID:187527007 {source="DOID:10079"}
xref: SCTID:59051007 {source="MONDO:equivalentTo", source="DOID:10079"}
xref: UMLS:C0010678 {source="MEDGEN:4122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000367 {source="DOID:10079", source="MESH:D003551"} ! taeniasis
is_a: MONDO:0005135 {source="DOID:10079/inferred", source="EFO:0007231", source="MESH:D003551/inferred", source="MONDO:Redundant", source="NCIT:C34520", source="Orphanet:1560"} ! parasitic infectious disease
relationship: disease_has_infectious_agent NCBITaxon:6202 ! Taenia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0015485
name: obsolete primary hereditary glaucoma
subset: ordo_group_of_disorders {source="Orphanet:156005"}
synonym: "primary glaucoma" RELATED [Orphanet:156005]
xref: GARD:16490 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015486
name: keratoconus
def: "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:6824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "conical cornea" EXACT [DOID:10126]
synonym: "isolated keratoconus" NARROW [Orphanet:2335]
synonym: "KC" RELATED ABBREVIATION [GARD:0006824]
synonym: "keratoconus" EXACT [MONDO:ambiguous]
synonym: "keratoconus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "noninflammatory corneal thining" RELATED [GARD:0006824]
xref: DOID:10126 {source="MONDO:equivalentTo"}
xref: GARD:6824 {source="MONDO:GARD"}
xref: HP:0000563 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H18.6 {source="DOID:10126", source="Orphanet:156071/e", source="Orphanet:156071/specific", source="Orphanet:156071"}
xref: ICD10CM:H18.60 {source="DOID:10126"}
xref: ICD9:371.6 {source="DOID:10126"}
xref: ICD9:371.60 {source="DOID:10126", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10023353 {source="Orphanet:156071/e", source="Orphanet:156071"}
xref: MEDGEN:44015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007640 {source="DOID:10126", source="Orphanet:156071/e", source="MONDO:equivalentTo", source="Orphanet:156071"}
xref: NCIT:C26806 {source="DOID:10126", source="MONDO:equivalentTo"}
xref: OMIMPS:148300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:156071 {source="DOID:10126", source="MONDO:equivalentObsolete"}
xref: Orphanet:2335 {source="MONDO:equivalentObsolete"}
xref: SCTID:155160005 {source="DOID:10126"}
xref: SCTID:193843006 {source="DOID:10126"}
xref: SCTID:193846003 {source="DOID:10126"}
xref: SCTID:267733008 {source="DOID:10126"}
xref: SCTID:65636009 {source="DOID:10126", source="MONDO:equivalentTo"}
xref: UMLS:C0022578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44015"}
is_a: MONDO:0000942 {source="DOID:10126", source="MESH:D007640", source="NCIT:C26806/inferred"} ! corneal disorder
is_a: MONDO:0005328 {source="Orphanet:156071"} ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:148300"} ! inherited
property_value: IAO:0000589 "keratoconus (disease)" xsd:string

[Term]
id: MONDO:0015487
name: fatal infantile encephalocardiomyopathy
def: "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." [Orphanet:1561]
comment: Editor note: check GARD xref
subset: gard_rare {source="GARD:16569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1561"}
subset: orphanet_rare {source="Orphanet:1561"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" EXACT [DOID:0050713]
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency" EXACT [Orphanet:1561]
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [DOID:0050713]
synonym: "fatal infantile COX deficiency" EXACT [DOID:0050713, Orphanet:1561]
synonym: "fatal infantile cytochrome C oxidase deficiency" RELATED [Orphanet:1561]
synonym: "fatal infantile encephalomyopathy" RELATED [GARD:0001113]
xref: DOID:0050713 {source="MONDO:equivalentTo"}
xref: GARD:16569 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:1561", source="Orphanet:1561/attributed", source="Orphanet:1561/ntbt"}
xref: MEDGEN:903874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1561 {source="MONDO:equivalentTo", source="DOID:0050713"}
xref: SCTID:718124006 {source="MONDO:equivalentTo"}
xref: UMLS:C4273730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903874"}
is_a: MONDO:0004994 {source="https://github.com/monarch-initiative/mondo/issues/1566", source="https://orcid.org/0000-0001-6330-7526"} ! cardiomyopathy
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy" xsd:anyURI {source="GARD:0001113"}

[Term]
id: MONDO:0015488
name: obsolete predominantly large-vessel vasculitis
subset: ordo_group_of_disorders {source="Orphanet:156140"}
xref: GARD:19981 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156140 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015489
name: obsolete predominantly medium-vessel vasculitis
subset: ordo_group_of_disorders {source="Orphanet:156143"}
xref: GARD:19982 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156143 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015490
name: obsolete predominantly small-vessel vasculitis
subset: ordo_group_of_disorders {source="Orphanet:156146"}
xref: GARD:19983 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156146 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015491
name: immune complex mediated vasculitis
subset: disease_grouping
subset: gard_rare {source="GARD:19984", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:156149"}
subset: rare
xref: GARD:19984 {source="MONDO:GARD"}
xref: MEDGEN:1842565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:156149 {source="MONDO:equivalentTo"}
xref: UMLS:C5680655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842565"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0018882 {source="PMID:36936215", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0009-0001-6494-4831"} ! vasculitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0015492
name: anti-neutrophil cytoplasmic antibody-associated vasculitis
def: "Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." [MESH:D056648]
subset: disease_grouping
subset: gard_rare {source="GARD:13011", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:156152"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AAV" EXACT ABBREVIATION [Orphanet:156152]
synonym: "ANCA-associated vasculitis" EXACT [Orphanet:156152]
synonym: "antineutrophil cytoplasmic antibody-associated vasculitis" EXACT [Orphanet:156152]
xref: GARD:13011 {source="MONDO:GARD"}
xref: icd11.foundation:1404622826 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:156152"}
xref: MEDGEN:403453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056648 {source="Orphanet:156152/e", source="MONDO:equivalentTo", source="Orphanet:156152"}
xref: Orphanet:156152 {source="MONDO:equivalentTo"}
xref: UMLS:C2717865 {source="MEDGEN:403453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0015493
name: lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: Orphanet:156156 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0020087 {source="Orphanet:156156"} ! hereditary lipodystrophy

[Term]
id: MONDO:0015494
name: isolated dystonia
def: "A dystonia (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: disease_grouping
subset: gard_rare {source="GARD:19985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:156159"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated dystonic disorder" EXACT []
synonym: "nonsyndromic dystonia (disease)" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic dystonic disorder" EXACT [MONDO:patterns/isolated]
synonym: "Pure dystonia" EXACT [Orphanet:156159]
xref: GARD:19985 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:156159/attributed", source="Orphanet:156159/ntbt", source="Orphanet:156159"}
xref: MEDGEN:1842310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:156159 {source="MONDO:equivalentTo"}
xref: UMLS:C5679608 {source="MONDO:equivalentTo", source="MEDGEN:1842310", source="MONDO:MEDGEN"}
is_a: MONDO:0044807 {source="Orphanet:156159"} ! inherited dystonia
intersection_of: MONDO:0003441 ! dystonic disorder
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0015495
name: obsolete otomandibular dysplasia associated with monogenic syndromes
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: otomandibular dysplasia'
subset: ordo_group_of_disorders {source="Orphanet:156202"}
xref: GARD:19994 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156202 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015482

[Term]
id: MONDO:0015496
name: macroglossia
def: "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" [MESH:D008260]
subset: disease_grouping
subset: gard_rare {source="GARD:3342", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:156207"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "enlarged tongue" RELATED [GARD:0003342]
synonym: "giant tongue" RELATED [GARD:0003342]
xref: GARD:3342 {source="MONDO:GARD"}
xref: ICD10CM:Q38.2 {source="Orphanet:156207/specific", source="Orphanet:156207", source="Orphanet:156207/e"}
xref: MedDRA:10025391 {source="Orphanet:156207", source="Orphanet:156207/e"}
xref: MEDGEN:44236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531735 {source="Orphanet:156207", source="Orphanet:156207/e"}
xref: MESH:D008260 {source="MONDO:equivalentTo", source="Orphanet:156207", source="Orphanet:156207/e"}
xref: Orphanet:156207 {source="MONDO:equivalentTo"}
xref: UMLS:C0024421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44236"}
is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton

[Term]
id: MONDO:0015497
name: obsolete hypoglossia/aglossia
subset: ordo_group_of_disorders {source="Orphanet:156212"}
xref: GARD:19995 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q38.3 {source="Orphanet:156212/inclusion", source="Orphanet:156212", source="Orphanet:156212/ntbt"}
xref: icd11.foundation:2087939516 {source="Orphanet:156212", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:156212 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015498
name: oromandibular-limb anomalies syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:19996", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:156215"}
subset: rare
xref: GARD:19996 {source="MONDO:GARD"}
xref: icd11.foundation:1868700139 {source="MONDO:equivalentTo", source="Orphanet:156215", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:156215 {source="MONDO:equivalentTo"}
xref: UMLS:C5680663 {source="MEDGEN:1842880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015499
name: obsolete paralytic facial malformation
subset: ordo_group_of_disorders {source="Orphanet:156224"}
xref: GARD:19997 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.0 {source="Orphanet:156224/attributed", source="Orphanet:156224/ntbt", source="Orphanet:156224"}
xref: Orphanet:156224 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015500
name: facial arteriovenous malformation
def: "Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy." [Orphanet:156230]
subset: disease_grouping
subset: gard_rare {source="GARD:12663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:156230"}
subset: rare
xref: GARD:12663 {source="MONDO:GARD"}
xref: ICD10CM:Q27.3 {source="Orphanet:156230/ntbt", source="Orphanet:156230"}
xref: MEDGEN:1842762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:156230 {source="MONDO:equivalentTo"}
xref: UMLS:C5680665 {source="MEDGEN:1842762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001256 {source="Orphanet:156230"} ! arteriovenous hemangioma/malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12663/facial-arteriovenous-malformation" xsd:anyURI {source="GARD:0012663"}

[Term]
id: MONDO:0015501
name: obsolete syndrome or malformation associated with head and neck malformations
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:156237"}
xref: GARD:19998 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156237 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0015502
name: obsolete pinnae and external auditory canal anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:156243"}
xref: GARD:19999 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156243 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0015503
name: obsolete nose and cavum anomaly
subset: ordo_group_of_disorders {source="Orphanet:156246"}
xref: GARD:20000 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q30.0 {source="Orphanet:156246/btnt", source="Orphanet:156246"}
xref: ICD10CM:Q30.1 {source="Orphanet:156246/btnt", source="Orphanet:156246"}
xref: ICD10CM:Q30.2 {source="Orphanet:156246/btnt", source="Orphanet:156246"}
xref: ICD10CM:Q30.3 {source="Orphanet:156246/btnt", source="Orphanet:156246"}
xref: ICD10CM:Q30.8 {source="Orphanet:156246/btnt", source="Orphanet:156246"}
xref: ICD10CM:Q30.9 {source="Orphanet:156246/btnt", source="Orphanet:156246"}
xref: icd11.foundation:484839707 {source="MONDO:obsoleteEquivalent", source="Orphanet:156246", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:156246 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015504
name: obsolete larynx anomaly
subset: ordo_group_of_disorders {source="Orphanet:156249"}
xref: GARD:20001 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q31.0 {source="Orphanet:156249", source="Orphanet:156249/btnt"}
xref: ICD10CM:Q31.1 {source="Orphanet:156249", source="Orphanet:156249/btnt"}
xref: ICD10CM:Q31.3 {source="Orphanet:156249", source="Orphanet:156249/btnt"}
xref: ICD10CM:Q31.5 {source="Orphanet:156249", source="Orphanet:156249/btnt"}
xref: ICD10CM:Q31.8 {source="Orphanet:156249", source="Orphanet:156249/btnt"}
xref: ICD10CM:Q31.9 {source="Orphanet:156249", source="Orphanet:156249/btnt"}
xref: icd11.foundation:2041437327 {source="MONDO:obsoleteEquivalent", source="Orphanet:156249", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:156249 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015505
name: obsolete tracheal anomaly
subset: ordo_group_of_disorders {source="Orphanet:156252"}
xref: GARD:20002 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:679333287 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:156252"}
xref: Orphanet:156252 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015506
name: obsolete rare syndrome with cardiac malformations
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:156532"}
xref: GARD:20003 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156532 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015507
name: obsolete rare genetic hepatic disease
def: "OBSOLETE. Rare genetic liver disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:156601"}
synonym: "rare genetic liver disease" EXACT []
xref: GARD:20004 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156601 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005154

[Term]
id: MONDO:0015508
name: obsolete hereditary parenchymatous liver disease
subset: ordo_group_of_disorders {source="Orphanet:156604"}
synonym: "genetic parenchymatous liver disease" EXACT [Orphanet:156604]
xref: GARD:20005 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156604 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015509
name: obsolete hereditary biliary tract disease
def: "OBSOLETE. Genetic biliary tract disease." []
subset: ordo_group_of_disorders {source="Orphanet:156607"}
synonym: "genetic biliary tract disease" EXACT [MONDO:patterns/genetic]
xref: GARD:20006 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156607 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015510
name: obsolete rare genetic respiratory disease
def: "OBSOLETE. Rare genetic respiratory system disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:156610"}
synonym: "rare genetic respiratory system disease" EXACT []
xref: GARD:20007 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156610 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005087

[Term]
id: MONDO:0015511
name: obsolete rare genetic urogenital disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:156619"}
xref: GARD:20008 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156619 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021145

[Term]
id: MONDO:0015512
name: obsolete genetic hypertension
def: "OBSOLETE. An instance of hypertension that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:156629"}
synonym: "genetic hypertension" EXACT [MONDO:patterns/genetic]
synonym: "genetic hypertensive disorder" EXACT [MONDO:patterns/genetic]
xref: GARD:20010 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156629 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0005044

[Term]
id: MONDO:0015513
name: obsolete rare genetic endocrine disease
def: "OBSOLETE. A form of endocrine system disease that is both rare and inborn." [MONDO:patterns/rare_genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:156638"}
synonym: "rare genetic endocrine system disease" EXACT []
xref: GARD:20011 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156638 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005151

[Term]
id: MONDO:0015514
name: hereditary endocrine growth disease
subset: disease_grouping
subset: gard_rare {source="GARD:20012", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:156643"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic endocrine growth disease" EXACT [Orphanet:156643]
synonym: "growth disorder" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20012 {source="MONDO:GARD"}
xref: MEDGEN:1842942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006130 {source="MONDO:equivalentTo"}
xref: Orphanet:156643 {source="MONDO:equivalentTo"}
xref: UMLS:C5680637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842942"}
is_a: MONDO:0005151 {source="Orphanet:156643"} ! endocrine system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare

[Term]
id: MONDO:0015515
name: carnitine palmitoyltransferase II deficiency
def: "Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form." [Orphanet:157]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157"}
subset: orphanet_rare {source="Orphanet:157"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Carnitine palmitoyltransferase 2 deficiency" RELATED [GARD:0001121]
synonym: "Carnitine palmitoyltransferase deficiency type 2" EXACT [Orphanet:157]
synonym: "Carnitine palmitoyltransferase II (CPT II) deficiency" RELATED [GARD:0001121]
synonym: "carnitine palmitoyltransferase II deficiency" EXACT CLINGEN_LABEL []
synonym: "CPT II deficiency" EXACT [NCIT:C114766]
synonym: "CPT-II" EXACT [DOID:0060235]
synonym: "CPT2" EXACT ABBREVIATION [Orphanet:157]
synonym: "CPTII" EXACT ABBREVIATION [Orphanet:157]
synonym: "infantile carnitine palmitoyltransferase II deficiency" EXACT [DOID:0060235]
synonym: "late-onset carnitine palmitoyltransferase II deficiency" EXACT [DOID:0060235]
synonym: "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT [DOID:0060235]
xref: DOID:0060235 {source="MONDO:equivalentTo"}
xref: GARD:1121 {source="MONDO:GARD"}
xref: HGNC:2330 {source="GARD:0001121"}
xref: ICD10CM:E71.3 {source="Orphanet:157/attributed", source="Orphanet:157/ntbt", source="Orphanet:157"}
xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535589 {source="DOID:0060235", source="Orphanet:157/e", source="MONDO:equivalentTo", source="Orphanet:157"}
xref: NANDO:1200971 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200510 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201133 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201134 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C114766 {source="DOID:0060235", source="MONDO:equivalentTo"}
xref: Orphanet:157 {source="DOID:0060235", source="MONDO:equivalentTo"}
xref: SCTID:238002005 {source="DOID:0060235", source="MONDO:equivalentTo"}
xref: UMLS:C0342790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137978"}
is_a: MONDO:0017716 {source="Orphanet:157"} ! disorder of carnitine cycle and carnitine transport
relationship: excluded_subClassOf MONDO:0016117 {source="Orphanet:157", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular lipidosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency" xsd:anyURI {source="GARD:0001121"}

[Term]
id: MONDO:0015516
name: symbrachydactyly of hands and feet
def: "A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." [https://orcid.org/0000-0001-5208-3432, Orphanet:1570]
subset: gard_rare {source="GARD:1680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1570"}
subset: ordo_malformation_syndrome {source="Orphanet:1570"}
subset: orphanet_rare {source="Orphanet:1570"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "De Smet-Fabry-Fryns syndrome" EXACT [Orphanet:1570]
synonym: "frints de Smet Fabry Fryns syndrome" EXACT [MONDO:0023194]
synonym: "symbrachydactyly of the hand and foot" EXACT [GARD:0001680, MESH:C538062]
xref: GARD:1680 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:1570/attributed", source="Orphanet:1570/ntbt", source="Orphanet:1570"}
xref: icd11.foundation:159463685 {source="MONDO:equivalentTo", source="Orphanet:1570", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:419146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538062 {source="MONDO:equivalentTo"}
xref: Orphanet:1570 {source="MONDO:equivalentTo"}
xref: UMLS:C2931719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419146"}
is_a: MONDO:0017424 {source="Orphanet:1570"} ! non-syndromic brachydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7197" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1680/frints-de-smet-fabry-fryns-syndrome" xsd:anyURI {source="GARD:0001680"}

[Term]
id: MONDO:0015517
name: common variable immunodeficiency
def: "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." [Orphanet:1572]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:990"}
subset: ordo_disorder {source="Orphanet:1572"}
subset: orphanet_rare {source="Orphanet:1572"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired agammaglobulinemia" RELATED [DOID:12177, NCIT:C26725]
synonym: "acquired hypogammaglobulinemia" RELATED [DOID:12177]
synonym: "common variable agammaglobulinemia" EXACT [DOID:12177]
synonym: "common variable hypogamma-globulinemia" RELATED [GARD:0006140]
synonym: "Common Variable Immune Deficiency" EXACT [NORD:990]
synonym: "common variable immune deficiency" RELATED [GARD:0006140]
synonym: "CVID" EXACT ABBREVIATION [DOID:12177, Orphanet:1572]
synonym: "hypogamma-globulinemia, acquired" RELATED [GARD:0006140]
synonym: "idiopathic immunoglobulin deficiency" EXACT [Orphanet:1572]
synonym: "Immunoglobulin deficiency, late-onset" RELATED [GARD:0006140]
synonym: "primary antibody deficiency" EXACT [Orphanet:1572]
synonym: "primary hypogammaglobulinemia" EXACT [Orphanet:1572]
synonym: "secondary hypogammaglobulinemia" EXACT [NCIT:C26725]
synonym: "sporadic hypogammaglobulinemia" EXACT [DOID:12177]
xref: DOID:12177 {source="MONDO:equivalentTo"}
xref: GARD:6140 {source="MONDO:GARD"}
xref: ICD10CM:D83 {source="DOID:12177"}
xref: ICD10CM:D83.0 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"}
xref: ICD10CM:D83.1 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"}
xref: ICD10CM:D83.2 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"}
xref: ICD10CM:D83.8 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"}
xref: ICD10CM:D83.9 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="DOID:12177", source="Orphanet:1572/specific"}
xref: ICD9:279.06 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12177"}
xref: MedDRA:10021449 {source="Orphanet:1572", source="Orphanet:1572/e"}
xref: MEDGEN:40407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017074 {source="Orphanet:1572", source="MONDO:equivalentTo", source="Orphanet:1572/e", source="DOID:12177"}
xref: NANDO:1200344 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200717 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26725 {source="MONDO:equivalentTo"}
xref: NORD:990 {source="MONDO:NORD"}
xref: OMIM:607594 {source="Orphanet:1572", source="Orphanet:1572/e", source="MONDO:includedEntryInOMIM", source="DOID:12177"}
xref: OMIMPS:607594 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1572 {source="MONDO:equivalentTo", source="DOID:12177"}
xref: SCTID:191010004 {source="DOID:12177"}
xref: SCTID:23238000 {source="MONDO:equivalentTo", source="DOID:12177"}
xref: UMLS:C0009447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40407"}
is_a: MONDO:0015356 {source="Orphanet:1572"} ! hereditary neoplastic syndrome
is_a: MONDO:0016463 {source="NCIT:C26725"} ! syndromic agammaglobulinemia
relationship: disease_has_feature HP:0004313 ! Decreased circulating antibody level
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607594"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0015518
name: infantile bilateral striatal necrosis
def: "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic." [Orphanet:1576]
subset: gard_rare {source="GARD:5040", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1576"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IBSN" EXACT ABBREVIATION [GARD:0005040, Orphanet:1576]
synonym: "infantile bilateral striatal necrosis" EXACT [GARD:0005040]
synonym: "infantile striatonigral degeneration" EXACT [Orphanet:1576]
synonym: "infantile striatonigral necrosis" EXACT [Orphanet:1576]
synonym: "SNDI" RELATED ABBREVIATION [GARD:0005040]
synonym: "striatal degeneration familial" RELATED [GARD:0005040]
synonym: "striatonigral degeneration infantile" RELATED [GARD:0005040]
xref: GARD:5040 {source="MONDO:GARD"}
xref: ICD10CM:G23.2 {source="Orphanet:1576/attributed", source="Orphanet:1576/ntbt", source="MONDO:relatedTo", source="Orphanet:1576"}
xref: MEDGEN:167090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100242 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200888 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:1576 {source="MONDO:equivalentTo", source="GARD:0005040"}
xref: SCTID:718174008 {source="MONDO:equivalentTo"}
xref: UMLS:C0795996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167090"}
is_a: MONDO:0005559 {source="Orphanet:1576"} ! neurodegenerative disease
relationship: excluded_subClassOf MONDO:0015983 {source="Orphanet:1576", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0017641 {source="Orphanet:1576", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete miscellaneous movement disorder due to neurodegenerative disease
relationship: excluded_subClassOf MONDO:0017662 {source="Orphanet:1576", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete miscellaneous movement disorder due to genetic neurodegenerative disease

[Term]
id: MONDO:0015519
name: congenital or early infantile CACH syndrome
subset: gard_rare {source="GARD:16978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:157713"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16978 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:157713", source="Orphanet:157713/attributed", source="Orphanet:157713/ntbt"}
xref: MEDGEN:1842419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:157713 {source="MONDO:equivalentTo"}
xref: UMLS:C5680650 {source="MEDGEN:1842419", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800448 {source="Orphanet:157713"} ! leukoencephalopathy with vanishing white matter
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015520
name: late infantile CACH syndrome
subset: gard_rare {source="GARD:16979", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:157716"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16979 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:157716", source="Orphanet:157716/attributed", source="Orphanet:157716/ntbt"}
xref: MEDGEN:1826172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:157716 {source="MONDO:equivalentTo"}
xref: UMLS:C5680648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826172"}
is_a: MONDO:0800448 {source="Orphanet:157716"} ! leukoencephalopathy with vanishing white matter

[Term]
id: MONDO:0015521
name: juvenile or adult CACH syndrome
subset: gard_rare {source="GARD:16980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:157719"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16980 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:157719/attributed", source="Orphanet:157719/ntbt", source="Orphanet:157719"}
xref: MEDGEN:1826173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:157719 {source="MONDO:equivalentTo"}
xref: UMLS:C5680649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826173"}
is_a: MONDO:0800448 {source="Orphanet:157719"} ! leukoencephalopathy with vanishing white matter

[Term]
id: MONDO:0015522
name: obsolete situs ambiguus
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2826" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018677

[Term]
id: MONDO:0015523
name: epithelioid hemangioendothelioma
def: "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." [NCIT:C3800]
subset: gard_rare {source="GARD:20014", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:124536"}
subset: ordo_disorder {source="Orphanet:157791"}
subset: orphanet_rare {source="Orphanet:157791"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epithelioid angioendothelioma" EXACT [NCIT:C3800]
synonym: "epithelioid angiosarcoma" EXACT [NCIT:C3800]
synonym: "epithelioid hemangioendothelioma" EXACT [NCIT:C3800]
synonym: "malignant epithelioid hemangioendothelioma" EXACT [MONDO:0000899]
xref: DOID:0080190 {source="MONDO:equivalentTo"}
xref: GARD:20014 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:157791/attributed", source="Orphanet:157791/ntbt", source="Orphanet:157791"}
xref: ICDO:9130/3 {source="NCIT:C3800"}
xref: ICDO:9133/1 {source="NCIT:C3800"}
xref: ICDO:9133/3 {source="NCIT:C3800"}
xref: MEDGEN:569676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018323 {source="Orphanet:157791/e", source="MONDO:equivalentTo", source="Orphanet:157791"}
xref: NCIT:C3800 {source="MONDO:equivalentTo", source="DOID:0080190"}
xref: NORD:124536 {source="MONDO:NORD"}
xref: ONCOTREE:EHAE {source="MONDO:equivalentTo"}
xref: Orphanet:157791 {source="MONDO:equivalentTo"}
xref: SCTID:403981003 {source="MONDO:relatedTo"}
xref: SCTID:54124005 {source="MONDO:equivalentTo"}
xref: UMLS:C0334538 {source="MEDGEN:569676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002095 {source="MESH:D018323/inferred", source="NCIT:C3800"} ! vascular cancer
is_a: MONDO:0021121 {source="MESH:D018323", source="NCIT:C3800"} ! hemangioendothelioma
is_a: MONDO:0024296 {source="Orphanet:157791"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3741" xsd:anyURI

[Term]
id: MONDO:0015524
name: hyperplastic polyposis syndrome
def: "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer." [Orphanet:157798]
subset: gard_rare {source="GARD:16982", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:157798"}
subset: orphanet_rare {source="Orphanet:157798"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "serrated polyposis" EXACT [Orphanet:157798]
xref: GARD:16982 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:157798/attributed", source="Orphanet:157798/ntbt", source="Orphanet:157798"}
xref: MEDGEN:1645454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C165469 {source="MONDO:equivalentTo"}
xref: OMIM:175020 {source="Orphanet:157798/btnt", source="MONDO:relatedTo", source="Orphanet:157798"}
xref: Orphanet:157798 {source="MONDO:equivalentTo"}
xref: SCTID:763536006 {source="MONDO:equivalentTo"}
xref: UMLS:C4296896 {source="MONDO:equivalentTo", source="MEDGEN:1645454", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0015185 {source="Orphanet:157798", source="https://orcid.org/0000-0002-3458-4839"} ! intestinal polyposis syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0015525
name: congenital pseudoarthrosis of the limbs
subset: gard_rare {source="GARD:20015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157808"}
subset: ordo_morphological_anomaly {source="Orphanet:157808"}
subset: orphanet_rare {source="Orphanet:157808"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital pseudarthrosis of the limbs" EXACT [Orphanet:157808]
synonym: "congenital pseudoarthrosis" RELATED [GARD:0009722]
xref: GARD:20015 {source="MONDO:GARD"}
xref: MEDGEN:1680202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535762 {source="MONDO:equivalentTo"}
xref: Orphanet:157808 {source="MONDO:equivalentTo"}
xref: UMLS:C5190522 {source="MEDGEN:1680202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9722/congenital-pseudoarthrosis" xsd:anyURI {source="GARD:0009722"}

[Term]
id: MONDO:0015526
name: cold-induced sweating syndrome
def: "Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature." [Orphanet:157820]
subset: gard_rare {source="GARD:16983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157820"}
subset: orphanet_rare {source="Orphanet:157820"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CISS" EXACT ABBREVIATION [Orphanet:157820]
synonym: "Crisponi syndrome" RELATED EXCLUDE [DOID:0060294]
synonym: "Sohar-Crisponi syndrome" EXACT [DOID:0060294]
xref: DOID:0060294 {source="MONDO:equivalentTo"}
xref: GARD:16983 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="Orphanet:157820/attributed", source="Orphanet:157820/ntbt", source="Orphanet:157820"}
xref: MEDGEN:321950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536214 {source="DOID:0060294"}
xref: OMIMPS:272430 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:157820 {source="MONDO:equivalentTo", source="DOID:0060294"}
xref: SCTID:702363009 {source="MONDO:equivalentTo", source="DOID:0060294"}
xref: UMLS:C1832409 {source="MEDGEN:321950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018431 {source="Orphanet:157820"} ! cold-induced sweating syndrome - hyperthermia spectrum
relationship: disease_has_major_feature HP:0025278 ! Cold-induced sweating
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:272430"} ! inherited
relationship: realized_in_response_to ECTO:0001055 ! exposure to decreased air temperature

[Term]
id: MONDO:0015528
name: congenital epulis
def: "A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative." [NCIT:C4675]
subset: gard_rare {source="GARD:20016", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157826"}
subset: orphanet_rare {source="Orphanet:157826"}
subset: rare
synonym: "congenital Epulides" EXACT [DOID:7280]
synonym: "congenital epulis" EXACT [DOID:7280, NCIT:C4675]
synonym: "congenital gingival cell tumor" EXACT [Orphanet:157826]
synonym: "congenital gingival cell tumour" EXACT OMO:0003005 []
synonym: "congenital granular cell tumor" EXACT [MONDO:patterns/congenital, NCIT:C4675, Orphanet:157826]
synonym: "congenital granular cell tumour" EXACT OMO:0003005 []
synonym: "gingival granular cell tumor" RELATED [NCIT:C4675]
synonym: "gingival granular cell tumour" RELATED OMO:0003005 []
synonym: "Neumann tumor" EXACT [Orphanet:157826]
synonym: "Neumann tumour" EXACT OMO:0003005 []
xref: DOID:7280 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:8303 {source="MONDO:equivalentTo"}
xref: GARD:20016 {source="MONDO:GARD"}
xref: MEDGEN:83962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005887 {source="MONDO:equivalentTo", source="DOID:7280"}
xref: NCIT:C4675 {source="MONDO:equivalentTo", source="DOID:7280"}
xref: Orphanet:157826 {source="MONDO:equivalentTo"}
xref: SCTID:25511009 {source="DOID:7280"}
xref: SCTID:360525006 {source="MONDO:equivalentTo", source="DOID:7280"}
xref: UMLS:C0376319 {source="MEDGEN:83962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003396 {source="DOID:7280"} ! epulis
is_a: MONDO:0006424 {source="Orphanet:157826"} ! soft tissue neoplasm
is_a: MONDO:0006499 {source="NCIT:C4675", source="NCIT:C4675/inferred"} ! hamartoma
intersection_of: MONDO:0006235 ! granular cell tumor
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: disease_has_location UBERON:0001828 ! gingiva
relationship: disease_has_location UBERON:0004103 ! alveolar ridge
relationship: excluded_subClassOf MONDO:0002616 {source="DOID:8303", source="https://orcid.org/0000-0001-5208-3432"} ! mesenchymal cell neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7284" xsd:anyURI

[Term]
id: MONDO:0015529
name: paroxysmal Hemicrania
def: "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy." [Orphanet:157835]
subset: gard_rare {source="GARD:10794", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157835"}
subset: orphanet_rare {source="Orphanet:157835"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:1001822 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10794 {source="MONDO:GARD"}
xref: ICD10CM:G44.0 {source="Orphanet:157835", source="Orphanet:157835/ntbt"}
xref: ICD9:339.03 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10019461 {source="Orphanet:157835", source="Orphanet:157835/e"}
xref: MEDGEN:235603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D051302 {source="MONDO:equivalentTo", source="Orphanet:157835", source="Orphanet:157835/e"}
xref: Orphanet:157835 {source="MONDO:equivalentTo"}
xref: SCTID:443094001 {source="MONDO:equivalentTo"}
xref: UMLS:C1399352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235603"}
is_a: MONDO:0015530 {source="MESH:D051302", source="Orphanet:157835"} ! trigeminal autonomic cephalalgia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania" xsd:anyURI {source="GARD:0010794"}

[Term]
id: MONDO:0015530
name: trigeminal autonomic cephalalgia
def: "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms." [NCIT:C117074]
subset: disease_grouping
subset: gard_rare {source="GARD:20017", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:157843"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20017 {source="MONDO:GARD"}
xref: ICD10CM:G44.8 {source="Orphanet:157843", source="Orphanet:157843/ntbt"}
xref: icd11.foundation:607078588 {source="MONDO:equivalentTo", source="Orphanet:157843", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:339.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:327950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D051303 {source="MONDO:equivalentTo", source="Orphanet:157843", source="Orphanet:157843/e"}
xref: NCIT:C117074 {source="MONDO:equivalentTo"}
xref: Orphanet:157843 {source="MONDO:equivalentTo"}
xref: SCTID:449814007 {source="MONDO:equivalentTo"}
xref: UMLS:C1565172 {source="MEDGEN:327950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017181 {source="MESH:D051303"} ! hypnic headache
is_a: MONDO:0043218 {source="NCIT:C117074"} ! neurovascular disorder
relationship: disease_has_location UBERON:0001645 ! trigeminal nerve

[Term]
id: MONDO:0015531
name: non-Langerhans cell histiocytosis
def: "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)." [MESH:D015616]
subset: disease_grouping
subset: gard_rare {source="GARD:8231", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:157987"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "histiocytosis, non-Langerhans-cell" RELATED [GARD:0008231]
synonym: "non-Langerhans-cell histiocytosis" EXACT [MONDO:0002964]
xref: DOID:4330 {source="MONDO:equivalentTo"}
xref: GARD:8231 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:157987", source="Orphanet:157987/ntbt"}
xref: ICD9:288.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015616 {source="MONDO:equivalentTo", source="Orphanet:157987", source="Orphanet:157987/e", source="DOID:4330"}
xref: Orphanet:157987 {source="MONDO:equivalentTo"}
xref: SCTID:127069007 {source="MONDO:equivalentTo", source="DOID:4330"}
xref: UMLS:C0019624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9265"}
is_a: MONDO:0002637 {source="DOID:4330", source="MESH:D015616"} ! histiocytosis
disjoint_from: MONDO:0018310 ! Langerhans cell histiocytosis
relationship: excluded_subClassOf MONDO:0017368 {source="Orphanet:157987", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic disease with skin involvement

[Term]
id: MONDO:0015532
name: generalized eruptive histiocytosis
subset: gard_rare {source="GARD:20018", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157991"}
subset: orphanet_rare {source="Orphanet:157991"}
subset: rare
synonym: "generalised eruptive histiocytoma" EXACT OMO:0003005 []
synonym: "generalized eruptive histiocytoma" EXACT [Orphanet:157991]
xref: GARD:20018 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:157991", source="Orphanet:157991/ntbt"}
xref: MEDGEN:578001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:157991 {source="MONDO:equivalentTo"}
xref: SCTID:110980006 {source="MONDO:equivalentTo"}
xref: UMLS:C0347404 {source="MEDGEN:578001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015531 {source="Orphanet:157991"} ! non-Langerhans cell histiocytosis

[Term]
id: MONDO:0015533
name: benign cephalic histiocytosis
subset: gard_rare {source="GARD:20019", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157997"}
subset: orphanet_rare {source="Orphanet:157997"}
subset: rare
xref: GARD:20019 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:157997", source="Orphanet:157997/ntbt"}
xref: ICD9:216.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:578000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:157997 {source="MONDO:equivalentTo"}
xref: SCTID:255192005 {source="MONDO:equivalentTo"}
xref: UMLS:C0347403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:578000"}
is_a: MONDO:0015531 {source="Orphanet:157997"} ! non-Langerhans cell histiocytosis

[Term]
id: MONDO:0015534
name: juvenile xanthogranuloma
def: "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." [NCIT:C3451]
subset: gard_rare {source="GARD:20020", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158000"}
subset: orphanet_rare {source="Orphanet:158000"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile xanthogranuloma" EXACT [MONDO:0006259]
synonym: "JXG" EXACT ABBREVIATION [NCIT:C3451]
synonym: "multiple eruptive juvenile xanthogranuloma" EXACT [DOID:4424]
synonym: "Naevoxanthoendothelioma" EXACT [DOID:4424]
synonym: "xanthoma neviforme" EXACT [DOID:4424]
xref: DOID:4424 {source="MONDO:equivalentTo"}
xref: EFO:1000311 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20020 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158000/ntbt", source="Orphanet:158000"}
xref: icd11.foundation:98595592 {source="MONDO:equivalentTo", source="Orphanet:158000"}
xref: MEDGEN:12179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014972 {source="DOID:4424", source="Orphanet:158000/e", source="MONDO:equivalentTo", source="Orphanet:158000"}
xref: NANDO:2200037 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3451 {source="DOID:4424", source="EFO:1000311", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:158000 {source="MONDO:equivalentTo"}
xref: SCTID:189098009 {source="DOID:4424"}
xref: SCTID:400031009 {source="DOID:4424"}
xref: SCTID:400204000 {source="DOID:4424", source="MONDO:equivalentTo"}
xref: SCTID:71709009 {source="DOID:4424"}
xref: UMLS:C0043324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12179"}
is_a: MONDO:0015531 {source="DOID:4424", source="MESH:D014972", source="Orphanet:158000"} ! non-Langerhans cell histiocytosis

[Term]
id: MONDO:0015535
name: xanthoma disseminatum
subset: gard_rare {source="GARD:13186", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158003"}
subset: orphanet_rare {source="Orphanet:158003"}
subset: rare
synonym: "Montgomery syndrome" EXACT [Orphanet:158003]
xref: GARD:13186 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158003", source="Orphanet:158003/ntbt"}
xref: MedDRA:10052575 {source="Orphanet:158003", source="Orphanet:158003/e"}
xref: MEDGEN:12178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158003 {source="MONDO:equivalentTo"}
xref: SCTID:399970005 {source="MONDO:equivalentTo"}
xref: UMLS:C0043322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12178"}
is_a: MONDO:0015531 {source="Orphanet:158003"} ! non-Langerhans cell histiocytosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum" xsd:anyURI {source="GARD:0013186"}

[Term]
id: MONDO:0015536
name: papular xanthoma
def: "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease." [Orphanet:158008]
subset: gard_rare {source="GARD:20021", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158008"}
subset: orphanet_rare {source="Orphanet:158008"}
subset: rare
xref: GARD:20021 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158008", source="Orphanet:158008/ntbt"}
xref: MEDGEN:1636485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158008 {source="MONDO:equivalentTo"}
xref: SCTID:765221009 {source="MONDO:equivalentTo"}
xref: UMLS:C4707373 {source="MEDGEN:1636485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015531 {source="Orphanet:158008"} ! non-Langerhans cell histiocytosis

[Term]
id: MONDO:0015537
name: necrobiotic xanthogranuloma
def: "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement." [MESH:D058252]
subset: gard_rare {source="GARD:10951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158011"}
subset: orphanet_rare {source="Orphanet:158011"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NXG" RELATED ABBREVIATION [GARD:0010951]
xref: EFO:1001376 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10951 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158011/ntbt", source="Orphanet:158011"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058252 {source="Orphanet:158011/e", source="MONDO:equivalentTo", source="Orphanet:158011"}
xref: Orphanet:158011 {source="MONDO:equivalentTo"}
xref: SCTID:404164003 {source="MONDO:equivalentTo"}
xref: UMLS:C1275339 {source="MEDGEN:266158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015531 {source="Orphanet:158011"} ! non-Langerhans cell histiocytosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma" xsd:anyURI {source="GARD:0010951"}

[Term]
id: MONDO:0015538
name: indeterminate dendritic cell tumor
def: "A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable." [NCIT:C81767]
subset: gard_rare {source="GARD:20022", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158019"}
subset: orphanet_rare {source="Orphanet:158019"}
subset: rare
synonym: "IDCT" RELATED ABBREVIATION [ONCOTREE:IDCT]
synonym: "indeterminate cell histiocytosis" EXACT [NCIT:C81767]
synonym: "indeterminate Dendritic cell tumor" EXACT [NCIT:C81767]
synonym: "indeterminate dendritic cell tumor" EXACT [Orphanet:158019]
synonym: "indeterminate Dendritic cell tumour" EXACT OMO:0003005 []
xref: GARD:20022 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158019", source="Orphanet:158019/ntbt"}
xref: MEDGEN:415159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C81767 {source="MONDO:equivalentTo"}
xref: ONCOTREE:IDCT {source="MONDO:equivalentTo"}
xref: Orphanet:158019 {source="MONDO:equivalentTo"}
xref: SCTID:721313009 {source="MONDO:equivalentTo"}
xref: UMLS:C2825741 {source="MEDGEN:415159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006247 {source="NCIT:C81767"} ! histiocytic and dendritic cell neoplasm
is_a: MONDO:0015531 {source="Orphanet:158019"} ! non-Langerhans cell histiocytosis

[Term]
id: MONDO:0015539
name: progressive nodular histiocytosis
def: "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease." [Orphanet:158022]
subset: gard_rare {source="GARD:20023", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158022"}
subset: orphanet_rare {source="Orphanet:158022"}
subset: rare
xref: GARD:20023 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:158022/ntbt", source="Orphanet:158022"}
xref: MEDGEN:1647278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158022 {source="MONDO:equivalentTo"}
xref: SCTID:765141005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707331 {source="MEDGEN:1647278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015531 {source="Orphanet:158022"} ! non-Langerhans cell histiocytosis

[Term]
id: MONDO:0015540
name: hemophagocytic syndrome
def: "Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis)." [Orphanet:158032]
comment: Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19
subset: disease_grouping
subset: gard_rare {source="GARD:20024", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1938", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:158032"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial erythrophagocytic lymphohistiocytosis" RELATED [GARD:0006589]
synonym: "familial hemophagocytic lymphohistiocytosis" RELATED [GARD:0006589]
synonym: "familial histiocytic reticulosis" RELATED [GARD:0006589]
synonym: "FHL" RELATED ABBREVIATION [GARD:0006589]
synonym: "haemophagocytic syndrome" RELATED [DOID:0050120]
synonym: "hemophagocytic disorder" RELATED [NCIT:C34792]
synonym: "Hemophagocytic Lymphohistiocytosis" EXACT [NORD:1938]
synonym: "hemophagocytic lymphohistiocytosis" EXACT [MONDO:0000247, NCIT:C34792, Orphanet:158032]
synonym: "hemophagocytic syndrome" EXACT [MONDO:0021051, NCIT:C35439]
synonym: "HLH" EXACT ABBREVIATION [GARD:0006589, Orphanet:158032]
synonym: "HPS" RELATED EXCLUDE [DOID:0050120]
xref: DOID:0050120 {source="MONDO:equivalentTo"}
xref: GARD:20024 {source="MONDO:GARD"}
xref: ICD10CM:D76.1 {source="DOID:0050120"}
xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10058125 {source="Orphanet:158032/e", source="Orphanet:158032"}
xref: MEDGEN:854411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D051359 {source="DOID:0050120"}
xref: NANDO:2200032 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34792 {source="MONDO:equivalentTo", source="DOID:0050120"}
xref: NCIT:C35439 {source="MONDO:equivalentTo"}
xref: NORD:1938 {source="MONDO:NORD"}
xref: Orphanet:158032 {source="MONDO:equivalentTo"}
xref: Orphanet:540 {source="GARD:0006589", source="DOID:0050120"}
xref: SCTID:190958003 {source="DOID:0050120"}
xref: SCTID:234437005 {source="MONDO:equivalentTo", source="DOID:0050120"}
xref: UMLS:C3887558 {source="MEDGEN:854411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C34792/inferred", source="NCIT:C35439"} ! syndromic disease
is_a: MONDO:0005046 {source="Orphanet:158032"} ! immune system disorder
is_a: MONDO:0005833 {source="DOID:0050120"} ! lymphatic system disorder
relationship: disease_arises_from_structure CL:0000235 {source="NCIT:C35439"} ! macrophage
relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly
relationship: disease_has_feature HP:0001876 ! Pancytopenia
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis" xsd:anyURI {source="GARD:0006589"}

[Term]
id: MONDO:0015541
name: hereditary hemophagocytic lymphohistiocytosis
def: "An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:6589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:540"}
subset: orphanet_rare {source="Orphanet:540"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hemophagocytic lymphohistiocytosis" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "genetic hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158038]
synonym: "genetic hemophagocytic syndrome" EXACT [MONDO:patterns/genetic]
synonym: "primary hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158038]
xref: GARD:6589 {source="MONDO:GARD"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10070904 {source="Orphanet:158038", source="Orphanet:158038/e"}
xref: MEDGEN:78797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:267700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:158038
xref: Orphanet:540 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:398250003 {source="MONDO:equivalentTo"}
xref: UMLS:C0272199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78797"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
is_a: MONDO:0015540 {source="MONDO:Redundant", source="Orphanet:158038"} ! hemophagocytic syndrome
intersection_of: MONDO:0015540 ! hemophagocytic syndrome
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:267700"} ! inherited

[Term]
id: MONDO:0015542
name: secondary hemophagocytic lymphohistiocytosis
def: "Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." [NCIT:C121184]
subset: disease_grouping
subset: gard_rare {source="GARD:20026", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:158041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158041]
synonym: "acquired hemophagocytic syndrome" EXACT [MONDO:patterns/acquired]
synonym: "reactive hemophagocytic syndrome" EXACT [Orphanet:158041]
xref: GARD:20026 {source="MONDO:GARD"}
xref: MEDGEN:883550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121184 {source="MONDO:equivalentTo"}
xref: Orphanet:158041 {source="MONDO:equivalentTo"}
xref: UMLS:C4054044 {source="MEDGEN:883550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015540 {source="MONDO:Redundant", source="NCIT:C121184", source="NCIT:C121184/inferred", source="Orphanet:158041"} ! hemophagocytic syndrome
intersection_of: MONDO:0015540 ! hemophagocytic syndrome
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0015543
name: obsolete hemophagocytic syndrome associated with an infection
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
is_obsolete: true
consider: MONDO:0015542

[Term]
id: MONDO:0015544
name: acquired hemophagocytic lymphohistiocytosis associated with malignant disease
subset: gard_rare {source="GARD:20027", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:158057"}
subset: ordo_disorder {source="Orphanet:158057"}
subset: orphanet_rare {source="Orphanet:158057"}
subset: rare
xref: GARD:20027 {source="MONDO:GARD"}
xref: MEDGEN:1683300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158057 {source="MONDO:equivalentTo"}
xref: UMLS:C5190710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683300"}
is_a: MONDO:0015542 {source="Orphanet:158057", source="https://orcid.org/0000-0001-5208-3432"} ! secondary hemophagocytic lymphohistiocytosis

[Term]
id: MONDO:0015545
name: macrophage activation syndrome
def: "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms." [NCIT:P378]
subset: gard_rare {source="GARD:12124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:158061"}
subset: ordo_disorder {source="Orphanet:158061"}
subset: orphanet_rare {source="Orphanet:158061"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MAS" EXACT ABBREVIATION [NCIT:C114471]
synonym: "reactive hemophagocytic lymphohistiocytosis" EXACT [NCIT:C114471]
xref: EFO:1001806 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12124 {source="MONDO:GARD"}
xref: MedDRA:10053867 {source="Orphanet:158061", source="Orphanet:158061/e"}
xref: MEDGEN:242753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055501 {source="MONDO:equivalentTo", source="Orphanet:158061", source="Orphanet:158061/e"}
xref: NCIT:C114471 {source="MONDO:equivalentTo"}
xref: Orphanet:158061 {source="MONDO:equivalentTo"}
xref: SCTID:430478003 {source="MONDO:equivalentTo"}
xref: UMLS:C1096155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:242753"}
is_a: MONDO:0015542 {source="Orphanet:158061", source="https://orcid.org/0000-0001-5208-3432"} ! secondary hemophagocytic lymphohistiocytosis
relationship: disease_has_basis_in_disruption_of GO:0042116 ! macrophage activation
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C114471", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome" xsd:anyURI {source="GARD:0012124"}

[Term]
id: MONDO:0015546
name: non-distal monosomy 10q
def: "Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported." [Orphanet:1581]
subset: gard_rare {source="GARD:18729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1581"}
subset: ordo_malformation_syndrome {source="Orphanet:1581"}
subset: orphanet_rare {source="Orphanet:1581"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-distal deletion 10q" EXACT [Orphanet:1581]
synonym: "non-distal monosomy type 10q" EXACT [MONDORULE:4, Orphanet:1581]
synonym: "non-telomeric monosomy 10q" EXACT [Orphanet:1581]
xref: GARD:18729 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1581/attributed", source="Orphanet:1581/ntbt", source="Orphanet:1581"}
xref: MEDGEN:1657787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1581 {source="MONDO:equivalentTo"}
xref: UMLS:C4749375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657787"}
is_a: MONDO:0016909 {source="Orphanet:1581"} ! partial monosomy of the long arm of chromosome 10
relationship: disease_arises_from_structure CHR:9606-chr10q {source="https://orcid.org/0000-0002-4142-7153"} ! 10q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0015547
name: hereditary dementia
def: "An instance of dementia that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:20028", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:158124"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic dementia" EXACT [MONDO:patterns/genetic, Orphanet:158124]
xref: GARD:20028 {source="MONDO:GARD"}
xref: MEDGEN:1842422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158124 {source="MONDO:equivalentTo"}
xref: UMLS:C5680680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842422"}
intersection_of: MONDO:0001627 ! dementia
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5952" xsd:anyURI

[Term]
id: MONDO:0015548
name: Huntington disease-like syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:20029", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:158266"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Huntington disease phenocopy syndrome" EXACT [Orphanet:158266]
xref: GARD:20029 {source="MONDO:GARD"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:777988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580174 {source="MONDO:equivalentTo"}
xref: Orphanet:158266 {source="MONDO:equivalentTo"}
xref: SCTID:702376003 {source="MONDO:equivalentTo"}
xref: UMLS:C3711380 {source="MEDGEN:777988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000167 ! Huntington disease and related disorders
is_a: MONDO:0015547 ! hereditary dementia

[Term]
id: MONDO:0015549
name: obsolete rare genetic hematologic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:158300"}
xref: GARD:20030 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:158300 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005570

[Term]
id: MONDO:0015550
name: suprabasal epidermolysis bullosa simplex
def: "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes." [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1369/]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epidermis suprabasal layer epidermolysis bullosa simplex" EXACT [MONDO:patterns/location]
synonym: "epidermolysis bullosa simplex of epidermis suprabasal layer" EXACT [MONDO:design_pattern]
xref: ICD10CM:Q81.0 {source="Orphanet:158661/attributed", source="Orphanet:158661/ntbt", source="Orphanet:158661"}
xref: MEDGEN:1388459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158661 {source="MONDO:equivalentObsolete"}
xref: SCTID:724840004 {source="MONDO:equivalentTo"}
xref: UMLS:C4511300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388459"}
is_a: MONDO:0017610 {source="MONDO:Redundant", source="Orphanet:158661"} ! epidermolysis bullosa simplex
intersection_of: MONDO:0017610 ! epidermolysis bullosa simplex
intersection_of: disease_has_location UBERON:0010402 ! epidermis suprabasal layer

[Term]
id: MONDO:0015551
name: obsolete basal epidermolysis bullosa simplex
def: "OBSOLETE. A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1369/]
comment: Reason: out of scope. Term to consider: epidermolysis bullosa simplex
synonym: "epidermolysis bullosa simplex of stratum basale of epidermis" EXACT [MONDO:design_pattern]
synonym: "stratum basale of epidermis epidermolysis bullosa simplex" EXACT [MONDO:patterns/location]
xref: ICD10CM:Q81.0 {source="Orphanet:158665", source="Orphanet:158665/attributed", source="Orphanet:158665/ntbt"}
xref: Orphanet:158665 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:723163000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI
is_obsolete: true
consider: MONDO:0030613

[Term]
id: MONDO:0015552
name: acral dystrophic epidermolysis bullosa
def: "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet." [Orphanet:158673]
subset: gard_rare {source="GARD:20031", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:158673"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEB, acral" EXACT [Orphanet:158673]
synonym: "DEB-ac" EXACT [Orphanet:158673]
xref: GARD:20031 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:158673", source="Orphanet:158673/attributed", source="Orphanet:158673/ntbt"}
xref: MEDGEN:1387925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158673 {source="MONDO:equivalentTo"}
xref: SCTID:733638006 {source="MONDO:equivalentTo"}
xref: UMLS:C4518087 {source="MEDGEN:1387925", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006543 {source="Orphanet:158673"} ! epidermolysis bullosa dystrophica

[Term]
id: MONDO:0015553
name: dystrophic epidermolysis bullosa, nails only
def: "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails." [Orphanet:158676]
subset: gard_rare {source="GARD:20032", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:158676"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEB-na" EXACT [Orphanet:158676]
synonym: "dominant dystrophic epidermolysis bullosa, nails only" RELATED [Orphanet:158676]
synonym: "nails-only DDEB" EXACT [Orphanet:158676]
synonym: "nails-only DEB" EXACT [Orphanet:158676]
xref: GARD:20032 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:158676", source="Orphanet:158676/attributed", source="Orphanet:158676/ntbt"}
xref: MEDGEN:928216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158676 {source="MONDO:equivalentTo"}
xref: SCTID:722436002 {source="MONDO:equivalentTo"}
xref: UMLS:C4302547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928216"}
is_a: MONDO:0006543 {source="Orphanet:158676"} ! epidermolysis bullosa dystrophica

[Term]
id: MONDO:0015554
name: typical urticaria pigmentosa
subset: gard_rare {source="GARD:20033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:158766"}
subset: rare
xref: GARD:20033 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:158766/ntbt", source="Orphanet:158766"}
xref: MEDGEN:1843439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158766 {source="MONDO:equivalentTo"}
xref: UMLS:C5680683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843439"}
is_a: MONDO:0019316 {source="Orphanet:158766"} ! maculopapular cutaneous mastocytosis

[Term]
id: MONDO:0015555
name: plaque-form urticaria pigmentosa
subset: gard_rare {source="GARD:20034", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:158769"}
subset: rare
xref: GARD:20034 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:158769", source="Orphanet:158769/ntbt"}
xref: MEDGEN:1843438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158769 {source="MONDO:equivalentTo"}
xref: UMLS:C5680682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843438"}
is_a: MONDO:0019316 {source="Orphanet:158769"} ! maculopapular cutaneous mastocytosis

[Term]
id: MONDO:0015556
name: nodular urticaria pigmentosa
subset: gard_rare {source="GARD:20035", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:158772"}
subset: rare
xref: GARD:20035 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:158772", source="Orphanet:158772/ntbt"}
xref: MEDGEN:1843440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158772 {source="MONDO:equivalentTo"}
xref: UMLS:C5680684 {source="MEDGEN:1843440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019316 {source="Orphanet:158772"} ! maculopapular cutaneous mastocytosis

[Term]
id: MONDO:0015557
name: Smouldering systemic mastocytosis
def: "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions." [Orphanet:158775]
subset: gard_rare {source="GARD:20036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158775"}
subset: orphanet_rare {source="Orphanet:158775"}
subset: rare
xref: GARD:20036 {source="MONDO:GARD"}
xref: ICD10CM:C96.2 {source="Orphanet:158775", source="Orphanet:158775/ntbt"}
xref: MEDGEN:856636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158775 {source="MONDO:equivalentTo"}
xref: UMLS:C3897042 {source="MEDGEN:856636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020331 {source="Orphanet:158775"} ! indolent systemic mastocytosis

[Term]
id: MONDO:0015558
name: isolated bone marrow mastocytosis
subset: gard_rare {source="GARD:20037", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:158778"}
subset: orphanet_rare {source="Orphanet:158778"}
subset: rare
xref: GARD:20037 {source="MONDO:GARD"}
xref: ICD10CM:C96.2 {source="Orphanet:158778", source="Orphanet:158778/ntbt"}
xref: MEDGEN:1672479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:158778 {source="MONDO:equivalentTo"}
xref: UMLS:C4509020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672479"}
is_a: MONDO:0020331 {source="Orphanet:158778"} ! indolent systemic mastocytosis

[Term]
id: MONDO:0015559
name: lymphoadenopathic mastocytosis with eosinophilia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:C96.2 {source="Orphanet:158793/ntbt", source="Orphanet:158793"}
xref: Orphanet:158793 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0020333 {source="Orphanet:158793"} ! aggressive systemic mastocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0015560
name: obsolete classic mast cell leukemia
comment: obsoleted in Orphanet
xref: ICD10CM:C94.3 {source="Orphanet:158796/ntbt", source="Orphanet:158796"}
xref: Orphanet:158796 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2137" xsd:anyURI
is_obsolete: true
consider: MONDO:0020334

[Term]
id: MONDO:0015561
name: obsolete aleukemic mast cell leukemia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3084" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020334

[Term]
id: MONDO:0015562
name: distal monosomy 17q
def: "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2)." [Orphanet:1597]
subset: gard_rare {source="GARD:10972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1597"}
subset: ordo_malformation_syndrome {source="Orphanet:1597"}
subset: orphanet_rare {source="Orphanet:1597"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17q deletion" RELATED [GARD:0010972]
synonym: "17q monosomy" RELATED [GARD:0010972]
synonym: "chromosome 17q deletion" RELATED [GARD:0010972]
synonym: "deletion 17q" RELATED [GARD:0010972]
synonym: "distal 17q deletion" EXACT [Orphanet:1597]
synonym: "distal monosomy type 17q" EXACT [MONDORULE:4, Orphanet:1597]
synonym: "monosomy 17q" RELATED [GARD:0010972]
synonym: "monosomy 17qter" EXACT [Orphanet:1597]
synonym: "partial monosomy 17q" RELATED [GARD:0010972]
synonym: "telomeric deletion 17q" EXACT [Orphanet:1597]
xref: GARD:10972 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1597/attributed", source="Orphanet:1597/ntbt", source="Orphanet:1597"}
xref: MEDGEN:895716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1597 {source="MONDO:equivalentTo"}
xref: SCTID:715365000 {source="MONDO:equivalentTo"}
xref: UMLS:C4275171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895716"}
is_a: MONDO:0016915 {source="Orphanet:1597"} ! partial deletion of the long arm of chromosome 17
relationship: disease_arises_from_structure CHR:9606-chr17q {source="https://orcid.org/0000-0002-4142-7153"} ! 17q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0015563
name: obsolete blue cone monochromatism
is_obsolete: true
replaced_by: MONDO:0010563

[Term]
id: MONDO:0015564
name: Castleman disease
def: "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms." [Orphanet:160]
subset: gard_rare {source="GARD:12656", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:898"}
subset: ordo_disorder {source="Orphanet:160"}
subset: orphanet_rare {source="Orphanet:160"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AFLH" EXACT ABBREVIATION [NCIT:C3056]
synonym: "ALNH" RELATED ABBREVIATION [GARD:0000673]
synonym: "angiofollicular ganglionic hyperplasia" EXACT [Orphanet:160]
synonym: "angiofollicular lymph hyperplasia" EXACT [DOID:0111157, Orphanet:160]
synonym: "angiofollicular lymph node hyperplasia" EXACT [DOID:0111157, GARD:0000673]
synonym: "angiofollicular lymphoid hyperplasia" EXACT [NCIT:C3056]
synonym: "Castleman disease" EXACT [NCIT:C3056]
synonym: "Castleman's disease" EXACT [NCIT:C3056]
synonym: "Castleman's tumor" EXACT [NCIT:C3056]
synonym: "Castleman's tumour" EXACT OMO:0003005 []
synonym: "giant lymph node hyperplasia" EXACT [DOID:0111157, NCIT:C3056]
synonym: "GLNH" EXACT ABBREVIATION [NCIT:C3056]
synonym: "lymphoid hamartoma" EXACT [DOID:0111157]
xref: DOID:0111157 {source="MONDO:equivalentTo"}
xref: GARD:12656 {source="MONDO:GARD"}
xref: ICD10CM:D47.4 {source="Orphanet:160", source="Orphanet:160/ntbt"}
xref: ICD10CM:D47.Z2 {source="MONDO:equivalentTo", source="DOID:0111157"}
xref: MedDRA:10050251 {source="Orphanet:160", source="Orphanet:160/e"}
xref: MEDGEN:42211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005871 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="Orphanet:160", source="Orphanet:160/e"}
xref: NCIT:C3056 {source="MONDO:equivalentTo", source="DOID:0111157"}
xref: NORD:898 {source="MONDO:NORD"}
xref: Orphanet:160 {source="MONDO:equivalentTo", source="DOID:0111157"}
xref: SCTID:207036003 {source="MONDO:equivalentTo", source="DOID:0111157"}
xref: SCTID:238809002 {source="DOID:0111157"}
xref: SCTID:367497006 {source="DOID:0111157"}
xref: SCTID:69484003 {source="DOID:0111157"}
xref: UMLS:C0017531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42211"}
is_a: MONDO:0016537 {source="DOID:0111157", source="NCIT:C3056/inferred"} ! lymphoproliferative syndrome
relationship: excluded_subClassOf MONDO:0015157 {source="Orphanet:160", source="https://orcid.org/0000-0001-5208-3432"} ! human herpesvirus 8-related tumor
relationship: excluded_subClassOf MONDO:0015757 {source="Orphanet:160", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoid hemopathy

[Term]
id: MONDO:0015565
name: cap polyposis
def: "Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea." [Orphanet:160148]
subset: gard_rare {source="GARD:20038", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:160148"}
subset: orphanet_rare {source="Orphanet:160148"}
subset: rare
synonym: "Cap inflammatory polyposis" EXACT [Orphanet:160148]
synonym: "eroded polypoid hyperplasia" EXACT [Orphanet:160148]
synonym: "inflammatory myoglandular polyps" EXACT [Orphanet:160148]
synonym: "polypoid prolapsing folds" EXACT [Orphanet:160148]
xref: GARD:20038 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:160148/ntbt", source="Orphanet:160148"}
xref: MEDGEN:929640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:160148 {source="MONDO:equivalentTo"}
xref: SCTID:720604008 {source="MONDO:equivalentTo"}
xref: UMLS:C4303971 {source="MEDGEN:929640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="Orphanet:160148"} ! inflammatory bowel disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015187"} ! rare

[Term]
id: MONDO:0015566
name: 2q24 microdeletion syndrome
def: "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." [Orphanet:1617]
subset: gard_rare {source="GARD:3746", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:1617"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1617"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2q24 deletion" RELATED [GARD:0003746]
synonym: "chromosome 2q24 microdeletion syndrome" RELATED [GARD:0003746]
synonym: "Del(2)(q24)" EXACT [Orphanet:1617]
synonym: "deletion 2q24" RELATED [GARD:0003746]
synonym: "monosomy 2q24" EXACT [Orphanet:1617]
xref: GARD:3746 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1617/attributed", source="Orphanet:1617/ntbt", source="Orphanet:1617"}
xref: MEDGEN:419168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538316 {source="Orphanet:1617/e", source="MONDO:equivalentTo", source="Orphanet:1617"}
xref: Orphanet:1617 {source="MONDO:equivalentTo"}
xref: SCTID:719658006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419168"}
is_a: MONDO:0016901 {source="Orphanet:1617"} ! partial deletion of the long arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2q24 ! 2q24 (Human)
relationship: disease_has_major_feature MONDO:0005129 ! cataract
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1617", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0015567
name: cataract-glaucoma syndrome
def: "Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years." [Orphanet:162]
subset: gard_rare {source="GARD:1160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:162"}
subset: ordo_malformation_syndrome {source="Orphanet:162"}
subset: orphanet_rare {source="Orphanet:162"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract - glaucoma" EXACT [MONDO:0022676]
xref: GARD:1160 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:162", source="Orphanet:162/attributed", source="Orphanet:162/ntbt"}
xref: MEDGEN:930800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:162 {source="MONDO:equivalentTo"}
xref: SCTID:718851007 {source="MONDO:equivalentTo"}
xref: UMLS:C4305131 {source="MEDGEN:930800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:162", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma" xsd:anyURI {source="GARD:0001160"}

[Term]
id: MONDO:0015568
name: isolated congenital nasal pyriform aperture stenosis
subset: gard_rare {source="GARD:20039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:162516"}
subset: ordo_malformation_syndrome {source="Orphanet:162516"}
subset: orphanet_rare {source="Orphanet:162516"}
subset: rare
synonym: "isolated apertura pyriformis stenosis" EXACT [Orphanet:162516]
synonym: "isolated nasal pyriform aperture hypoplasia" EXACT [Orphanet:162516]
xref: GARD:20039 {source="MONDO:GARD"}
xref: ICD10CM:Q30.8 {source="Orphanet:162516/ntbt", source="Orphanet:162516"}
xref: Orphanet:162516 {source="MONDO:equivalentTo"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015569
name: congenital nasal pyriform aperture stenosis with holoprosencephaly
subset: ordo_malformation_syndrome {source="Orphanet:162521"}
synonym: "apertura pyriformis with holoprosencephaly" EXACT [Orphanet:162521]
xref: ICD10CM:Q30.8 {source="Orphanet:162521", source="Orphanet:162521/ntbt"}
xref: MEDGEN:1747766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:162521 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5437790 {source="MEDGEN:1747766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015570
name: isolated congenital auditory ossicle malformation
def: "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance." [Orphanet:162526]
subset: gard_rare {source="GARD:20040", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:162526"}
subset: ordo_morphological_anomaly {source="Orphanet:162526"}
subset: orphanet_rare {source="Orphanet:162526"}
subset: rare
synonym: "congenital auditory ossicle malformation without external ear abnormality" EXACT [Orphanet:162526]
xref: GARD:20040 {source="MONDO:GARD"}
xref: ICD10CM:Q16.3 {source="Orphanet:162526/e", source="Orphanet:162526"}
xref: MEDGEN:510593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:162526 {source="MONDO:equivalentTo"}
xref: UMLS:C0158587 {source="MEDGEN:510593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015604 {source="Orphanet:162526"} ! middle ear anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015571
name: deletion 5q35
def: "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." [Orphanet:1627]
subset: gard_rare {source="GARD:18730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1627"}
subset: ordo_malformation_syndrome {source="Orphanet:1627"}
subset: orphanet_rare {source="Orphanet:1627"}
subset: rare
synonym: "Del (5)(q35)" EXACT [Orphanet:1627]
synonym: "Del (5)(qter)" EXACT [Orphanet:1627]
synonym: "deletion type 5q35" EXACT [MONDORULE:7, Orphanet:1627]
synonym: "distal 5q deletion" EXACT [Orphanet:1627]
synonym: "monosomy 5q35" EXACT [Orphanet:1627]
synonym: "telomeric deletion 5q" EXACT [Orphanet:1627]
xref: GARD:18730 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1627/attributed", source="Orphanet:1627/ntbt", source="Orphanet:1627"}
xref: MEDGEN:419838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537647 {source="MONDO:equivalentTo"}
xref: Orphanet:1627 {source="MONDO:equivalentTo"}
xref: SCTID:721158009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931574 {source="MONDO:equivalentTo", source="MEDGEN:419838", source="MONDO:MEDGEN"}
is_a: MONDO:0016904 {source="Orphanet:1627"} ! partial deletion of the long arm of chromosome 5
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr5q35 ! 5q35 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0015572
name: obsolete cerebral malformation due to abnormal neuronal migration
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: named as non-syndromic in ORDO, but we rename for consistency, see https://github.com/monarch-initiative/mondo-build/issues/58.
subset: ordo_group_of_disorders {source="Orphanet:163209"}
synonym: "brain malformation due to abnormal neuronal migration" EXACT [Orphanet:163209]
synonym: "non-syndromic cerebral malformation due to abnormal neuronal migration" RELATED [Orphanet:163209]
xref: GARD:20041 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.8 {source="Orphanet:163209/attributed", source="Orphanet:163209/ntbt", source="Orphanet:163209"}
xref: Orphanet:163209 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016054

[Term]
id: MONDO:0015573
name: subacute cutaneous lupus erythematosus
def: "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced." [Orphanet:163525]
subset: gard_rare {source="GARD:20042", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163525"}
subset: orphanet_rare {source="Orphanet:163525"}
subset: rare
xref: GARD:20042 {source="MONDO:GARD"}
xref: ICD10CM:L93.1 {source="Orphanet:163525/e", source="MONDO:equivalentTo", source="Orphanet:163525"}
xref: icd11.foundation:192274757 {source="MONDO:equivalentTo", source="Orphanet:163525"}
xref: MedDRA:10057903 {source="Orphanet:163525/e", source="Orphanet:163525"}
xref: MEDGEN:7403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117111 {source="MONDO:equivalentTo"}
xref: Orphanet:163525 {source="MONDO:equivalentTo"}
xref: SCTID:239891002 {source="MONDO:equivalentTo"}
xref: UMLS:C0024140 {source="MEDGEN:7403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005282 {source="MONDO:Redundant", source="NCIT:C117111", source="Orphanet:163525"} ! cutaneous lupus erythematosus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018887"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015574
name: chronic cutaneous lupus erythematosus
def: "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis." [Orphanet:163531]
subset: disease_grouping
subset: gard_rare {source="GARD:20043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:163531"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous lupus erythematosus, chronic" EXACT [MONDO:patterns/chronic]
xref: GARD:20043 {source="MONDO:GARD"}
xref: ICD10CM:L93.0 {source="Orphanet:163531", source="Orphanet:163531/ntbt"}
xref: ICD10CM:L93.2 {source="Orphanet:163531", source="Orphanet:163531/ntbt"}
xref: icd11.foundation:1849568465 {source="MONDO:equivalentTo", source="Orphanet:163531"}
xref: MedDRA:10057929 {source="Orphanet:163531", source="Orphanet:163531/e"}
xref: Orphanet:163531 {source="MONDO:equivalentTo"}
is_a: MONDO:0005282 {source="Orphanet:163531"} ! cutaneous lupus erythematosus
intersection_of: MONDO:0005282 ! cutaneous lupus erythematosus
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018887"} ! rare

[Term]
id: MONDO:0015575
name: obsolete rare bacterial infectious disease
def: "OBSOLETE. Rare bacterial infectious disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:163582"}
synonym: "rare bacterial infectious disease" EXACT [MONDO:patterns/rare]
xref: GARD:20044 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:163582 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005113

[Term]
id: MONDO:0015576
name: obsolete rare viral disease
def: "OBSOLETE. Rare viral disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:163585"}
synonym: "rare viral disease" EXACT [MONDO:patterns/rare]
synonym: "rare viral infectious disease" EXACT [MONDO:patterns/rare]
xref: GARD:20045 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:163585 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005108

[Term]
id: MONDO:0015577
name: obsolete rare parasitic disease
def: "OBSOLETE. Any of the forms of parasitic infection that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:163588"}
synonym: "rare parasitic infection" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/rare]
synonym: "rare parasitic infectious disease" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20046 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:163588 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005135

[Term]
id: MONDO:0015578
name: obsolete rare mycosis
def: "OBSOLETE. Rare fungal infectious disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:163591"}
synonym: "rare fungal infectious disease" EXACT [MONDO:patterns/rare]
xref: GARD:20047 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:163591 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002041

[Term]
id: MONDO:0015579
name: Hb Bart's hydrops fetalis
def: "Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2)." [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
subset: gard_rare {source="GARD:16992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:163596"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-thalassemia hydrops fetalis" EXACT [Orphanet:163596]
synonym: "Alpha-thalassemia major" EXACT [Orphanet:163596]
synonym: "Haemoglobin Bart's hydrops fetalis" EXACT OMO:0003005 []
synonym: "Hb Bart’s hydrops fetalis caused by quadallelic variation in HBA1;HBA2" EXACT [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
synonym: "Hb Bart’s hydrops fetalis related to quadallelic variation in HBA1 and HBA2" EXACT [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
synonym: "HBA1;HBA2 digenic quadallelic Hb Bart’s hydrops fetalis" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
synonym: "Hemoglobin Bart's hydrops fetalis" EXACT [Orphanet:163596]
synonym: "homozygous alpha0-thalassemia" EXACT [Orphanet:163596]
xref: GARD:16992 {source="MONDO:GARD"}
xref: ICD10CM:D56.0 {source="Orphanet:163596", source="Orphanet:163596/attributed", source="Orphanet:163596/ntbt"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:543726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163596 {source="MONDO:equivalentTo"}
xref: SCTID:5300004 {source="MONDO:equivalentTo"}
xref: UMLS:C0272005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543726"}
is_a: MONDO:0009369 {source="https://orcid.org/0000-0001-5208-3432"} ! non-immune hydrops fetalis
is_a: MONDO:0011399 {source="Orphanet:163596"} ! alpha thalassemia spectrum
is_a: MONDO:0100563 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! digenic alpha thalassemia spectrum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7561" xsd:anyURI

[Term]
id: MONDO:0015580
name: distal monosomy 7q36
def: "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported." [Orphanet:1636]
subset: gard_rare {source="GARD:18731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1636"}
subset: ordo_malformation_syndrome {source="Orphanet:1636"}
subset: orphanet_rare {source="Orphanet:1636"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal deletion 7q36" EXACT [Orphanet:1636]
synonym: "distal monosomy type 7q36" EXACT [MONDORULE:7, Orphanet:1636]
synonym: "monosomy 7qter" EXACT [Orphanet:1636]
synonym: "telomeric deletion 7q36" EXACT [Orphanet:1636]
xref: GARD:18731 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1636/attributed", source="Orphanet:1636/ntbt", source="Orphanet:1636"}
xref: MEDGEN:1642679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1636 {source="MONDO:equivalentTo"}
xref: SCTID:763529005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642679"}
is_a: MONDO:0016906 {source="Orphanet:1636"} ! partial deletion of the long arm of chromosome 7
relationship: disease_arises_from_structure CHR:9606-chr7q36 {source="https://orcid.org/0000-0002-4142-7153"} ! 7q36 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0015581
name: obsolete bile acid synthesis defect with cholestasis and malabsorption
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn disorder of bile acid synthesis'
subset: ordo_group_of_disorders {source="Orphanet:163631"}
xref: GARD:20048 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:K76.8 {source="Orphanet:163631", source="Orphanet:163631/attributed", source="Orphanet:163631/ntbt"}
xref: icd11.foundation:1295299670 {source="MONDO:obsoleteEquivalent", source="Orphanet:163631", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:163631 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019218

[Term]
id: MONDO:0015582
name: obsolete rare disorder related with pregnancy, childbirth and puerperium
def: "OBSOLETE. Any of the forms of pregnancy disorder that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:163637"}
synonym: "rare pregnancy disorder" EXACT [MONDO:patterns/rare]
xref: GARD:20049 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:163637 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024575

[Term]
id: MONDO:0015583
name: 2p21 microdeletion syndrome
def: "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia." [Orphanet:163693]
subset: gard_rare {source="GARD:16999", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163693"}
subset: orphanet_rare {source="Orphanet:163693"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2p21 deletion syndrome" EXACT [Orphanet:163693]
synonym: "2p21 microdeletion syndrome" EXACT [DECIPHER:87]
synonym: "Del(2)(p21)" EXACT [Orphanet:163693]
synonym: "monosomy 2p21" EXACT [Orphanet:163693]
xref: DECIPHER:87 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: GARD:16999 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:163693/attributed", source="Orphanet:163693/ntbt", source="Orphanet:163693"}
xref: MEDGEN:930206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163693 {source="MONDO:equivalentTo"}
xref: SCTID:719652007 {source="MONDO:equivalentTo"}
xref: UMLS:C4304537 {source="MEDGEN:930206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016884 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0009-0001-6494-4831"} ! partial deletion of the short arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2p21 ! 2p21 (Human)
relationship: excluded_subClassOf MONDO:0011669 {source="Orphanet:163693", source="https://orcid.org/0000-0001-5208-3432"} ! hypotonia-cystinuria syndrome
relationship: excluded_subClassOf MONDO:0016901 {source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the long arm of chromosome 2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3777" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6311" xsd:anyURI

[Term]
id: MONDO:0015584
name: febrile infection-related epilepsy syndrome
def: "A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature." [https://orcid.org/0000-0001-5208-3432, Orphanet:163703]
subset: gard_rare {source="GARD:11005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1889"}
subset: ordo_disorder {source="Orphanet:163703"}
subset: orphanet_rare {source="Orphanet:163703"}
subset: rare
synonym: "acute encephalitis with refractory repetitive partial seizures" EXACT [Orphanet:163703]
synonym: "acute non-herpetic encephalitis with severe refractory status epilepticus" EXACT [Orphanet:163703]
synonym: "AERRPS" EXACT ABBREVIATION [Orphanet:163703]
synonym: "DESC syndrome" EXACT [Orphanet:163703]
synonym: "devastating epileptic encephalopathy in school-aged children" EXACT [Orphanet:163703]
synonym: "Febrile Infection-Related Epilepsy Syndrome (FIRES)" EXACT [NORD:1889]
synonym: "fever-induced refractory epileptic encephalopathy in school-aged children" EXACT [Orphanet:163703]
synonym: "FIRES" EXACT ABBREVIATION [Orphanet:163703]
synonym: "idiopathic catastrophic epileptic encephalopathy" EXACT [Orphanet:163703]
synonym: "severe refractory status epilepticus owing to presumed encephalitis" EXACT [Orphanet:163703]
synonym: "status epilepticus owing to presumed encephalitis" RELATED [GARD:0011005]
xref: GARD:11005 {source="MONDO:GARD"}
xref: ICD10CM:G40.5 {source="Orphanet:163703/ntbt", source="Orphanet:163703"}
xref: MEDGEN:1381987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200600 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100249 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200903 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1889 {source="MONDO:NORD"}
xref: Orphanet:163703 {source="MONDO:equivalentTo"}
xref: SCTID:725413002 {source="MONDO:equivalentTo"}
xref: UMLS:C4049262 {source="MONDO:equivalentTo", source="MEDGEN:1381987", source="MONDO:MEDGEN"}
is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome" xsd:anyURI {source="GARD:0011005"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/febrile-infection-related-epilepsy-overview.html" xsd:anyURI

[Term]
id: MONDO:0015585
name: cryptogenic late-onset epileptic spasms
def: "Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity." [Orphanet:163708]
subset: gard_rare {source="GARD:20050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163708"}
subset: orphanet_rare {source="Orphanet:163708"}
subset: rare
synonym: "late-onset infantile spasms" EXACT [Orphanet:163708]
xref: GARD:20050 {source="MONDO:GARD"}
xref: MEDGEN:1666207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163708 {source="MONDO:equivalentTo"}
xref: UMLS:C4755310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1666207"}
is_a: MONDO:0020072 {source="Orphanet:163708"} ! childhood-onset epilepsy syndrome

[Term]
id: MONDO:0015586
name: obsolete benign familial mesial temporal lobe epilepsy
def: "OBSOLETE. Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication." [Orphanet:163717]
subset: ordo_disorder {source="Orphanet:163717"}
subset: otar {source="MONDO:OTAR"}
synonym: "benign FMTLE" EXACT [Orphanet:163717]
xref: GARD:17001 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:163717 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015587
name: rolandic epilepsy-speech dyspraxia syndrome
def: "A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed." [Orphanet:163721]
subset: gard_rare {source="GARD:17002", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163721"}
subset: orphanet_rare {source="Orphanet:163721"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17002 {source="MONDO:GARD"}
xref: MEDGEN:1633042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163721 {source="MONDO:equivalentTo"}
xref: UMLS:C4707308 {source="MEDGEN:1633042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020072 {source="Orphanet:163721"} ! childhood-onset epilepsy syndrome
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:163721", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0015588
name: limbic encephalitis
def: "A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis]
subset: disease_grouping
subset: gard_rare {source="GARD:8742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:0080741 {source="MONDO:equivalentTo"}
xref: GARD:8742 {source="MONDO:GARD"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020363 {source="Orphanet:163892", source="MONDO:equivalentTo", source="Orphanet:163892/e"}
xref: Orphanet:163892 {source="MONDO:equivalentObsolete"}
xref: SCTID:230192003 {source="MONDO:equivalentTo"}
xref: UMLS:C0338430 {source="MEDGEN:137895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019956 {source="MESH:D020363", source="Orphanet:163892"} ! encephalitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis" xsd:anyURI {source="GARD:0008742"}

[Term]
id: MONDO:0015589
name: paraneoplastic limbic encephalitis
def: "A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia." [NCIT:C4350]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "limbic encephalitis" BROAD [NCIT:C4350]
xref: ICD10CM:G13.1 {source="Orphanet:163895", source="Orphanet:163895/ntbt"}
xref: ICD9:323.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NCIT:C4350 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165 note the NCIT class is implicitly paraneoplastic"}
xref: Orphanet:163895 {source="MONDO:equivalentObsolete"}
xref: SCTID:445014002 {source="MONDO:equivalentTo"}
is_a: MONDO:0015588 {source="MONDO:Redundant", source="Orphanet:163895"} ! limbic encephalitis
is_a: MONDO:0018215 {source="MONDO:Redundant", source="Orphanet:163895", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic neurologic syndrome
is_a: MONDO:0021073 {source="MONDO:Redundant", source="NCIT:C4350"} ! paraneoplastic syndrome
intersection_of: MONDO:0015588 ! limbic encephalitis
intersection_of: MONDO:0018215 ! paraneoplastic neurologic syndrome

[Term]
id: MONDO:0015590
name: classic paraneoplastic limbic encephalitis
def: "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed." [Orphanet:163898]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "classic paraneoplastic limbic encephalitis, with or without intracellular antigens" EXACT [Orphanet:163898]
xref: ICD10CM:G13.1 {source="Orphanet:163898", source="Orphanet:163898/ntbt"}
xref: Orphanet:163898 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0015589 {source="Orphanet:163898"} ! paraneoplastic limbic encephalitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0015591
name: obsolete limbic encephalitis associated with antibodies to cell membrane antigens
xref: ICD10CM:G13.1 {source="Orphanet:163903", source="Orphanet:163903/ntbt"}
xref: Orphanet:163903 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015592
name: limbic encephalitis with LGI1 antibodies
def: "Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported." [Orphanet:163908]
subset: gard_rare {source="GARD:13406", source="MONDO:GARD"}
subset: rare
synonym: "limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies" EXACT [Orphanet:163908]
xref: GARD:13406 {source="MONDO:GARD"}
xref: ICD10CM:G04.8 {source="Orphanet:163908/ntbt", source="Orphanet:163908"}
xref: ICD10CM:G13.1 {source="Orphanet:163908/ntbt", source="Orphanet:163908"}
xref: MEDGEN:1645969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163908 {source="MONDO:equivalentObsolete"}
xref: SCTID:763794005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645969"}
is_a: MONDO:0020068 {source="MONDO:Entailed", source="Orphanet:163908"} ! postinfectious encephalitis

[Term]
id: MONDO:0015593
name: obsolete limbic encephalitis with nCMAgs antibodies
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163).
synonym: "limbic encephalitis with novel cell membrane antigen antibodies" EXACT [Orphanet:163914]
xref: ICD10CM:G13.1 {source="Orphanet:163914", source="Orphanet:163914/ntbt"}
xref: Orphanet:163914 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6785" xsd:anyURI
is_obsolete: true
consider: MONDO:0020640

[Term]
id: MONDO:0015594
name: obsolete non-paraneoplastic limbic encephalitis
xref: Orphanet:163918 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5801" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015595
name: posttransplant acute limbic encephalitis
def: "Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated." [Orphanet:163921]
subset: gard_rare {source="GARD:20051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:163921"}
subset: ordo_disorder {source="Orphanet:163921"}
subset: orphanet_rare {source="Orphanet:163921"}
subset: rare
synonym: "pale" EXACT [Orphanet:163921]
xref: GARD:20051 {source="MONDO:GARD"}
xref: ICD10CM:A86 {source="Orphanet:163921/ntbt", source="Orphanet:163921"}
xref: MEDGEN:1657779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163921 {source="MONDO:equivalentTo"}
xref: UMLS:C4750744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657779"}
is_a: MONDO:0015588 {source="https://orcid.org/0000-0001-5208-3432"} ! limbic encephalitis
is_a: MONDO:0700220 {source="Orphanet:163921"} ! disease related to transplantation
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015596
name: non-herpetic acute limbic encephalitis
def: "Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders." [Orphanet:163924]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:G04.8 {source="Orphanet:163924/ntbt", source="Orphanet:163924"}
xref: MEDGEN:1646654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163924 {source="MONDO:equivalentObsolete"}
xref: SCTID:764998005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707262 {source="MEDGEN:1646654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015588 {source="https://orcid.org/0000-0001-5208-3432"} ! limbic encephalitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015597
name: pustulosis palmaris et plantaris
subset: gard_rare {source="GARD:12820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2008"}
subset: ordo_disorder {source="Orphanet:163927"}
subset: orphanet_rare {source="Orphanet:163927"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acropustulosis" EXACT [DOID:4398]
synonym: "localised pustular psoriasis" EXACT OMO:0003005 []
synonym: "localized pustular psoriasis" EXACT [Orphanet:163927]
synonym: "LPP" EXACT ABBREVIATION [Orphanet:163927]
synonym: "Palmoplantar Pustulosis" EXACT [NORD:2008]
synonym: "palmoplantar pustulosis" EXACT [DOID:4398, NCIT:C34888, Orphanet:163927]
synonym: "PPP" EXACT ABBREVIATION [Orphanet:163927]
synonym: "pustular psoriasis of the palms and/or soles" EXACT [DOID:4398]
synonym: "pustulosis of palm and sole" EXACT [MONDO:0002985]
xref: DOID:4398 {source="MONDO:equivalentTo"}
xref: GARD:12820 {source="MONDO:GARD"}
xref: ICD10CM:L40.3 {source="DOID:4398", source="Orphanet:163927", source="MONDO:equivalentTo", source="Orphanet:163927/e", source="Orphanet:163927/specific"}
xref: icd11.foundation:877172115 {source="Orphanet:163927", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10050185 {source="Orphanet:163927", source="Orphanet:163927/e"}
xref: MEDGEN:45290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011565 {source="DOID:4398", source="MONDO:relatedTo"}
xref: NCIT:C34888 {source="DOID:4398", source="MONDO:equivalentTo"}
xref: NORD:2008 {source="MONDO:NORD"}
xref: Orphanet:163927 {source="MONDO:equivalentTo"}
xref: SCTID:238610005 {source="DOID:4398"}
xref: SCTID:27520001 {source="DOID:4398", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:81271001 {source="MONDO:equivalentTo"}
xref: UMLS:C0030246 {source="MEDGEN:45290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="DOID:4398", source="NCIT:C34888"} ! dermatitis
is_a: MONDO:0005083 {source="ICD10CM:L40.3", source="https://orcid.org/0000-0001-5208-3432"} ! psoriasis
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease

[Term]
id: MONDO:0015598
name: obsolete acrodermatitis continua suppurativa of Hallopeau
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2829" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013626

[Term]
id: MONDO:0015599
name: atopic keratoconjunctivitis
def: "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." [Orphanet:163934]
subset: gard_rare {source="GARD:20053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163934"}
subset: orphanet_rare {source="Orphanet:163934"}
subset: rare
xref: GARD:20053 {source="MONDO:GARD"}
xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:163934/ntbt", source="Orphanet:163934"}
xref: ICD9:370.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069664 {source="Orphanet:163934/e", source="Orphanet:163934"}
xref: MEDGEN:698110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163934 {source="MONDO:equivalentTo"}
xref: SCTID:403434009 {source="MONDO:equivalentTo"}
xref: UMLS:C1274788 {source="MEDGEN:698110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder

[Term]
id: MONDO:0015600
name: X-linked intellectual disability, Cilliers type
def: "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)." [Orphanet:163971]
subset: gard_rare {source="GARD:20054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163971"}
subset: orphanet_rare {source="Orphanet:163971"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "X-linked intellectual disability-microcephaly-testicular failure syndrome" EXACT [Orphanet:163971]
xref: GARD:20054 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:163971", source="Orphanet:163971/attributed", source="Orphanet:163971/ntbt"}
xref: MEDGEN:930693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:163971 {source="MONDO:equivalentTo"}
xref: SCTID:719013004 {source="MONDO:equivalentTo"}
xref: UMLS:C4305024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930693"}
is_a: MONDO:0020119 {source="Orphanet:163971", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015601
name: X-linked intellectual disability, van Esch type
def: "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." [Orphanet:163976]
subset: gard_rare {source="GARD:17008", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:163976"}
subset: ordo_malformation_syndrome {source="Orphanet:163976"}
subset: orphanet_rare {source="Orphanet:163976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type" EXACT DEPRECATED [OMIM:301030]
synonym: "Van Esch-O'Driscoll syndrome" EXACT [OMIM:301030]
synonym: "Van Esch-O'Driscoll syndrome, X-linked recessive" EXACT [OMIM:301030, OMIM:genemap2]
synonym: "VEODS" EXACT ABBREVIATION [OMIM:301030]
xref: DOID:0111840 {source="MONDO:equivalentTo"}
xref: GARD:17008 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:163976/attributed", source="Orphanet:163976/ntbt", source="Orphanet:163976"}
xref: MEDGEN:930741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301030 {source="MONDO:equivalentTo"}
xref: Orphanet:163976 {source="OMIM:301030", source="MONDO:equivalentTo"}
xref: SCTID:718914002 {source="MONDO:equivalentTo"}
xref: UMLS:C4305072 {source="MEDGEN:930741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:301030"} ! disease
is_a: MONDO:0020119 {source="OMIM:301030", source="Orphanet:163976", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015602
name: obsolete developmental delay-deafness syndrome, Hildebrand type
comment: Obsolete in Orphanet
xref: Orphanet:163988 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0010558

[Term]
id: MONDO:0015603
name: obsolete rare odontal or periodontal disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:164001"}
xref: GARD:20055 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:164001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015604
name: middle ear anomaly
subset: disease_grouping
subset: gard_rare {source="GARD:20056", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:164004"}
subset: rare
xref: GARD:20056 {source="MONDO:GARD"}
xref: ICD10CM:Q16.3 {source="Orphanet:164004", source="Orphanet:164004/btnt"}
xref: ICD10CM:Q16.4 {source="Orphanet:164004", source="Orphanet:164004/btnt"}
xref: MedDRA:10060957 {source="Orphanet:164004", source="Orphanet:164004/e"}
xref: MEDGEN:540027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:164004 {source="MONDO:equivalentTo"}
xref: UMLS:C0266599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540027"}
is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0015605
name: distal monosomy 9p
def: "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma." [Orphanet:1642]
subset: gard_rare {source="GARD:18732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1642"}
subset: ordo_malformation_syndrome {source="Orphanet:1642"}
subset: orphanet_rare {source="Orphanet:1642"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal deletion 9p" EXACT [Orphanet:1642]
synonym: "distal monosomy type 9p" EXACT [MONDORULE:4, Orphanet:1642]
synonym: "monosomy 9pter" EXACT [Orphanet:1642]
synonym: "telomeric deletion 9p" EXACT [Orphanet:1642]
xref: GARD:18732 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:1642/attributed", source="Orphanet:1642/ntbt", source="Orphanet:1642"}
xref: MEDGEN:539240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538025 {source="MONDO:equivalentTo"}
xref: Orphanet:1642 {source="MONDO:equivalentTo"}
xref: SCTID:763530000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539240"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0008013 {source="Orphanet:1642"} ! chromosome 9p deletion syndrome
is_a: MONDO:0020040 ! 46,XY disorder of sex development
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: disease_arises_from_structure CHR:9606-chr9p {source="https://orcid.org/0000-0002-4142-7153"} ! 9p (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0015606
name: Xp22.3 microdeletion syndrome
def: "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated." [Orphanet:1643]
subset: gard_rare {source="GARD:18733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1643"}
subset: ordo_malformation_syndrome {source="Orphanet:1643"}
subset: orphanet_rare {source="Orphanet:1643"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(X)(p23)" EXACT [Orphanet:1643]
xref: GARD:18733 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:1643", source="Orphanet:1643/attributed", source="Orphanet:1643/ntbt"}
xref: MEDGEN:1388343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1643 {source="MONDO:equivalentTo"}
xref: SCTID:726733007 {source="MONDO:equivalentTo"}
xref: UMLS:C4512072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388343"}
is_a: MONDO:0017004 {source="Orphanet:1643"} ! partial monosomy of the short arm of chromosome X
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chrXp22.3 ! Xp22.3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13170/xp223-microdeletion-syndrome" xsd:anyURI {source="GARD:0013170"}

[Term]
id: MONDO:0015607
name: partial chromosome Y deletion
def: "Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility." [Orphanet:1646]
subset: gard_rare {source="GARD:16574", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1646"}
subset: ordo_malformation_syndrome {source="Orphanet:1646"}
subset: orphanet_rare {source="Orphanet:1646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Male sterility due to chromosome Y deletion" EXACT [Orphanet:1646]
synonym: "partial deletion of chromosome Y" RELATED [GARD:0004230]
synonym: "partial deletion of the long arm of the Y chromosome" RELATED [GARD:0004230]
synonym: "partial deletion of Y" RELATED [GARD:0004230]
synonym: "partial deletion of Y chromosome short arm" RELATED [GARD:0004230]
synonym: "Y-chromosome microdeletions" RELATED [GARD:0004230]
xref: GARD:16574 {source="MONDO:GARD"}
xref: HGNC:11311 {source="GARD:0004230"}
xref: ICD10CM:Q98.6 {source="Orphanet:1646", source="Orphanet:1646/attributed", source="Orphanet:1646/ntbt"}
xref: MEDGEN:267211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536297 {source="MONDO:equivalentTo", source="Orphanet:1646", source="Orphanet:1646/e"}
xref: Orphanet:1646 {source="MONDO:equivalentTo"}
xref: SCTID:717158001 {source="MONDO:equivalentTo"}
xref: UMLS:C1507149 {source="MEDGEN:267211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005372 {source="https://orcid.org/0000-0001-5208-3432"} ! male infertility
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chrY ! chromosome Y (Human)
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0015608
name: acute myeloid leukemia and myelodysplastic syndromes related to radiation
def: "Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure." [Orphanet:164726]
subset: gard_rare {source="GARD:20057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:164726"}
subset: orphanet_rare {source="Orphanet:164726"}
subset: rare
synonym: "AML and myelodysplastic syndromes related to radiation" EXACT [Orphanet:164726]
xref: GARD:20057 {source="MONDO:GARD"}
xref: MEDGEN:1637827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:164726 {source="MONDO:equivalentTo"}
xref: UMLS:C4707660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637827"}
is_a: MONDO:0019457 {source="Orphanet:164726"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015609
name: advanced sleep phase syndrome
def: "A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions." [https://orcid.org/0000-0001-5208-3432, Orphanet:164736]
subset: gard_rare {source="GARD:9242", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:164736"}
subset: orphanet_rare {source="Orphanet:164736"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "advanced sleep phase syndrome, familial" RELATED [GARD:0009242]
synonym: "familial advanced sleep phase syndrome" RELATED [GARD:0009242]
synonym: "familial advanced sleep-phase syndrome" EXACT [DOID:0050628]
synonym: "FASPS" EXACT ABBREVIATION [Orphanet:164736]
xref: DOID:0050628 {source="MONDO:equivalentTo"}
xref: GARD:9242 {source="MONDO:GARD"}
xref: ICD10CM:G47.2 {source="MONDO:relatedTo", source="Orphanet:164736/attributed", source="Orphanet:164736/ntbt", source="Orphanet:164736"}
xref: MEDGEN:348956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:604348 {source="MONDO:equivalentTo", source="DOID:0050628"}
xref: Orphanet:164736 {source="MONDO:equivalentTo", source="DOID:0050628"}
xref: SCTID:715829003 {source="MONDO:equivalentTo"}
xref: UMLS:C1858496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348956"}
is_a: MONDO:0003406 {source="Orphanet:164736"} ! sleep-wake disorder
relationship: disease_has_basis_in_disruption_of GO:0007623 ! circadian rhythm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604348"} ! inherited

[Term]
id: MONDO:0015610
name: acquired aplastic anemia
def: "An instance of aplastic anemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: gard_rare {source="GARD:20058", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:164823"}
subset: rare
synonym: "acquired aplastic anemia" EXACT [MONDO:patterns/acquired]
synonym: "rare acquired aplastic anaemia" RELATED OMO:0003005 []
synonym: "rare acquired aplastic anemia" RELATED [Orphanet:164823]
xref: GARD:20058 {source="MONDO:GARD"}
xref: ICD10CM:D61.1 {source="Orphanet:164823/btnt", source="Orphanet:164823"}
xref: ICD10CM:D61.2 {source="Orphanet:164823/btnt", source="Orphanet:164823"}
xref: MEDGEN:543648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201277 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:164823 {source="MONDO:equivalentTo"}
xref: SCTID:55907008 {source="MONDO:equivalentTo"}
xref: UMLS:C0271907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543648"}
is_a: MONDO:0015909 {source="MONDO:Redundant", source="Orphanet:164823"} ! aplastic anemia
intersection_of: MONDO:0015909 ! aplastic anemia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0015611
name: neutral lipid storage disease
def: "Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished." [Orphanet:165]
comment: Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype.
subset: disease_grouping
subset: gard_rare {source="GARD:3262", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:165"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chanarin-Dorfman syndrome" NARROW [DOID:0050729]
synonym: "lipidosis with triglycerid storage disease" RELATED [GARD:0003262]
synonym: "lipidosis with triglyceride storage disease" EXACT [Orphanet:165]
xref: DOID:0050729 {source="MONDO:equivalentTo"}
xref: GARD:3262 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="Orphanet:165/attributed", source="Orphanet:165/ntbt", source="Orphanet:165"}
xref: icd11.foundation:621440298 {source="MONDO:equivalentTo", source="Orphanet:165"}
xref: MESH:C536560 {source="Orphanet:165/e", source="Orphanet:165"}
xref: NANDO:1200622 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200997 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:165 {source="MONDO:equivalentTo"}
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0019245 {source="DOID:0050729", source="https://orcid.org/0000-0002-6601-2165"} ! lysosomal lipid storage disorder

[Term]
id: MONDO:0015612
name: Dent disease
def: "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." [Orphanet:1652]
subset: gard_rare {source="GARD:13105", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1040", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1652"}
subset: orphanet_rare {source="Orphanet:1652"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dent disease 1" NARROW [DOID:0050699]
synonym: "Dent disease 2" NARROW [DOID:0050699]
synonym: "Dent syndrome" EXACT [Orphanet:1652]
synonym: "Dent's disease" EXACT [DOID:0050699]
synonym: "Dents disease" RELATED [GARD:0013105]
synonym: "low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis" EXACT [Orphanet:1652]
synonym: "renal Fanconi syndrome with nephrocalcinosis and renal stones" EXACT [Orphanet:1652]
synonym: "X-linked recessive hypercalciuric hypophosphatemic rickets" EXACT [Orphanet:1652]
synonym: "X-linked recessive hypophosphatemic rickets" EXACT [NCIT:C123260]
synonym: "X-linked recessive nephrolithiasis" EXACT [Orphanet:1652]
xref: DOID:0050699 {source="MONDO:equivalentTo"}
xref: GARD:13105 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:1652/attributed", source="Orphanet:1652/ntbt", source="Orphanet:1652"}
xref: MedDRA:10069199 {source="Orphanet:1652", source="Orphanet:1652/e"}
xref: MEDGEN:168056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538212 {source="DOID:0050699"}
xref: MESH:C545036 {source="Orphanet:1652", source="Orphanet:1652/e"}
xref: MESH:C564487 {source="DOID:0050699"}
xref: MESH:D057973 {source="Orphanet:1652", source="MONDO:equivalentTo", source="DOID:0050699", source="Orphanet:1652/e"}
xref: NCIT:C123260 {source="MONDO:equivalentTo", source="DOID:0050699"}
xref: NORD:1040 {source="MONDO:NORD"}
xref: OMIMPS:300009 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1652 {source="MONDO:equivalentTo", source="DOID:0050699"}
xref: SCTID:444645005 {source="MONDO:equivalentTo", source="DOID:0050699"}
xref: UMLS:C0878681 {source="MEDGEN:168056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:D057973/inferred", source="MONDO:Redundant", source="NCIT:C123260", source="Orphanet:1652/inferred"} ! hereditary disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0006510 {source="DOID:0050699", source="MESH:D057973"} ! renal tubular transport disease
is_a: MONDO:0015962 {source="Orphanet:1652", source="Orphanet:1652/inferred"} ! inherited renal tubular disease
relationship: excluded_subClassOf MONDO:0005520 {source="NCIT:C123260", source="https://orcid.org/0000-0001-5208-3432"} ! rickets
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300009"} ! inherited

[Term]
id: MONDO:0015613
name: dentin dysplasia
def: "Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II." [Orphanet:1653]
subset: gard_rare {source="GARD:16575", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1653"}
subset: orphanet_rare {source="Orphanet:1653"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DD" EXACT ABBREVIATION [Orphanet:1653]
synonym: "dentinal dysplasia" EXACT [DOID:701]
xref: DOID:701 {source="MONDO:equivalentTo"}
xref: GARD:16575 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:1653/ntbt", source="DOID:701", source="Orphanet:1653/inclusion", source="Orphanet:1653"}
xref: icd11.foundation:1262020657 {source="Orphanet:1653", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003805 {source="DOID:701", source="Orphanet:1653", source="MONDO:equivalentTo", source="Orphanet:1653/e"}
xref: Orphanet:1635 {source="DOID:701"}
xref: Orphanet:1653 {source="MONDO:equivalentTo"}
xref: SCTID:109492001 {source="DOID:701", source="MONDO:equivalentTo"}
xref: SCTID:45742009 {source="DOID:701"}
xref: UMLS:C0011430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8310"}
is_a: MONDO:0002220 {source="DOID:701"} ! tooth hard tissue disease

[Term]
id: MONDO:0015614
name: dermatitis herpetiformis
def: "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance." [Orphanet:1656]
subset: gard_rare {source="GARD:10075", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1656"}
subset: orphanet_rare {source="Orphanet:1656"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dermatitis herpetiformis" EXACT [DOID:8505, ICD9CM:694.0, MONDO:0006538]
synonym: "dermatosis herpetiformis" EXACT [DOID:8505]
synonym: "Duhring's disease" EXACT [DOID:8505]
synonym: "Durhing-Brocq disease" EXACT [Orphanet:1656]
xref: DOID:8505 {source="MONDO:equivalentTo", source="EFO:1000684"}
xref: EFO:1000684 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10075 {source="MONDO:GARD"}
xref: ICD10CM:L13.0 {source="DOID:8505", source="MONDO:equivalentTo", source="Orphanet:1656", source="Orphanet:1656/e"}
xref: icd11.foundation:286313127 {source="MONDO:equivalentTo", source="Orphanet:1656"}
xref: ICD9:694.0 {source="DOID:8505", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10012468 {source="Orphanet:1656", source="Orphanet:1656/e"}
xref: MEDGEN:8327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003874 {source="DOID:8505", source="MONDO:equivalentTo", source="Orphanet:1656", source="Orphanet:1656/e"}
xref: NCIT:C26742 {source="DOID:8505", source="MONDO:equivalentTo"}
xref: Orphanet:1656 {source="MONDO:equivalentTo"}
xref: SCTID:111196000 {source="DOID:8505", source="MONDO:equivalentTo"}
xref: SCTID:156354007 {source="DOID:8505"}
xref: SCTID:200899006 {source="DOID:8505"}
xref: UMLS:C0011608 {source="MEDGEN:8327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Dermatitis_herpetiformis {source="EFO:1000684"}
is_a: MONDO:0002406 {source="DOID:8505/inferred", source="MESH:D003874", source="MONDO:Redundant", source="NCIT:C26742"} ! dermatitis
is_a: MONDO:0019337 {source="DOID:8505", source="EFO:1000684", source="Orphanet:1656"} ! autoimmune bullous skin disease

[Term]
id: MONDO:0015615
name: obsolete rare genetic gastroenterological disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:165652"}
synonym: "rare genetic gastrointestinal system disease" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20059 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:165652 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004335

[Term]
id: MONDO:0015616
name: obsolete rare genetic intestinal disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:165655"}
synonym: "genetic intestinal disease" EXACT [Orphanet:165655]
xref: GARD:20060 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:165655 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005020

[Term]
id: MONDO:0015617
name: obsolete hereditary gastro-esophageal disease
subset: ordo_group_of_disorders {source="Orphanet:165658"}
synonym: "genetic gastro-esophageal disease" EXACT [Orphanet:165658]
xref: GARD:20061 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:165658 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015618
name: obsolete genetic pancreatic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:165661"}
xref: GARD:20062 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:165661 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002356

[Term]
id: MONDO:0015619
name: obsolete non-syndromic urogenital tract malformation
def: "OBSOLETE. A urogenital tract malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:165704"}
synonym: "isolated urogenital tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic urogenital tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:20063 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:165704 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015620
name: obsolete syndromic urogenital tract malformation
def: "OBSOLETE. A urogenital tract malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:165707"}
synonym: "syndrome associated with urogenital tract malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic urogenital tract malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:20064 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:165707 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015621
name: obsolete rare abdominal surgical disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:165711"}
xref: GARD:22534 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:165711 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015622
name: wound myiasis
subset: gard_rare {source="GARD:20065", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:165955"}
subset: orphanet_rare {source="Orphanet:165955"}
subset: rare
synonym: "traumatic myiasis" EXACT [Orphanet:165955]
xref: GARD:20065 {source="MONDO:GARD"}
xref: ICD10CM:B87.1 {source="MONDO:equivalentTo", source="Orphanet:165955", source="Orphanet:165955/ntbt"}
xref: ICD9:998.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:576044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:165955 {source="MONDO:equivalentTo"}
xref: SCTID:240880004 {source="MONDO:equivalentTo"}
xref: UMLS:C0344061 {source="MEDGEN:576044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020568 {source="Orphanet:165955"} ! cutaneous myiasis

[Term]
id: MONDO:0015623
name: cavitary myiasis
def: "Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis." [Orphanet:165958]
subset: gard_rare {source="GARD:20066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:165958"}
subset: orphanet_rare {source="Orphanet:165958"}
subset: rare
xref: GARD:20066 {source="MONDO:GARD"}
xref: ICD10CM:B87.8 {source="Orphanet:165958/ntbt", source="Orphanet:165958"}
xref: MEDGEN:1631496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:165958 {source="MONDO:equivalentTo"}
xref: SCTID:764811001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707154 {source="MEDGEN:1631496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019147 {source="Orphanet:165958"} ! myiasis

[Term]
id: MONDO:0015624
name: diazoxide-sensitive diffuse hyperinsulinism
subset: disease_grouping
subset: gard_rare {source="GARD:20067", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:165985"}
subset: rare
synonym: "hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form" EXACT [Orphanet:165985]
xref: GARD:20067 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:165985", source="Orphanet:165985/attributed", source="Orphanet:165985/ntbt"}
xref: MEDGEN:1842739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:165985 {source="MONDO:equivalentTo"}
xref: UMLS:C5679570 {source="MEDGEN:1842739", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019010 {source="Orphanet:165985"} ! congenital isolated hyperinsulinism

[Term]
id: MONDO:0015625
name: diazoxide-resistant diffuse hyperinsulinism
def: "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." [Orphanet:165988]
subset: disease_grouping
subset: gard_rare {source="GARD:20068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:165988"}
subset: rare
synonym: "hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form" EXACT [Orphanet:165988]
xref: GARD:20068 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:165988", source="Orphanet:165988/attributed", source="Orphanet:165988/ntbt"}
xref: MEDGEN:1843355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:165988 {source="MONDO:equivalentTo"}
xref: UMLS:C5679569 {source="MONDO:equivalentTo", source="MEDGEN:1843355", source="MONDO:MEDGEN"}
is_a: MONDO:0017186 {source="Orphanet:165988"} ! diazoxide-resistant hyperinsulinism

[Term]
id: MONDO:0015626
name: Charcot-Marie-Tooth disease
def: "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." [NCIT:C75467]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:6034", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:919"}
subset: ordo_group_of_disorders {source="Orphanet:166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot Marie Tooth disease" RELATED [GARD:0006034]
synonym: "Charcot Marie Tooth muscular atrophy" EXACT [DOID:10595]
synonym: "Charcot-Marie-Tooth disease" EXACT CLINGEN_LABEL [NCIT:C75467]
synonym: "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy" RELATED [Orphanet:166]
synonym: "Charcot-Marie-Tooth hereditary neuropathy" EXACT [Orphanet:166]
synonym: "CMT" EXACT ABBREVIATION [Orphanet:166]
synonym: "CMT - Charcot-Marie-Tooth disease" EXACT [DOID:10595]
synonym: "CMT/HMSN" EXACT [Orphanet:166]
synonym: "hereditary motor and sensory neuropathy" BROAD [NCIT:C75467]
synonym: "hereditary sensorimotor neuropathy" BROAD [NCIT:C75467]
synonym: "peroneal muscular atrophy" EXACT [DOID:10595, ICD9CM:356.1]
xref: DOID:10595 {source="MONDO:equivalentTo"}
xref: GARD:6034 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:166/ntbt", source="Orphanet:166/inclusion", source="DOID:10595", source="Orphanet:166"}
xref: icd11.foundation:1538134578 {source="MONDO:equivalentTo", source="Orphanet:166", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:356.1 {source="DOID:10595"}
xref: MedDRA:10034699 {source="Orphanet:166/e", source="Orphanet:166"}
xref: MEDGEN:2980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002607 {source="Orphanet:166/e", source="MONDO:equivalentTo", source="DOID:10595", source="Orphanet:166"}
xref: NANDO:1200016 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200855 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75467 {source="MONDO:equivalentTo", source="DOID:10595"}
xref: NORD:919 {source="MONDO:NORD"}
xref: OMIMPS:118220 {source="MONDO:equivalentTo", source="DOID:10595"}
xref: Orphanet:166 {source="MONDO:equivalentTo"}
xref: SCTID:128202008 {source="DOID:10595"}
xref: SCTID:193158000 {source="DOID:10595"}
xref: SCTID:193162006 {source="DOID:10595"}
xref: SCTID:50548001 {source="DOID:10595"}
xref: UMLS:C0007959 {source="MEDGEN:2980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005244 {source="DOID:10595/inferred", source="MONDO:Redundant", source="NCIT:C75467"} ! peripheral neuropathy
is_a: MONDO:0019056 {source="DOID:10595", source="MESH:D002607/inferred"} ! neuromuscular disease
is_a: MONDO:0020127 {source="Orphanet:166"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:118220"} ! inherited

[Term]
id: MONDO:0015627
name: multiple epiphyseal dysplasia due to collagen 9 anomaly
def: "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported." [Orphanet:166002]
subset: gard_rare {source="GARD:15024", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166002"}
subset: orphanet_rare {source="Orphanet:166002"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0070305 {source="MONDO:equivalentTo"}
xref: GARD:15024 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:166002", source="MONDO:relatedTo", source="Orphanet:166002/attributed", source="Orphanet:166002/ntbt"}
xref: MEDGEN:1647610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201016 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:166002 {source="MONDO:equivalentTo"}
xref: SCTID:766717008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707798 {source="MONDO:equivalentTo", source="MEDGEN:1647610", source="MONDO:MEDGEN"}
is_a: MONDO:0016648 {source="MONDO:Redundant", source="Orphanet:166002"} ! multiple epiphyseal dysplasia
intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia
intersection_of: disease_has_basis_in_dysfunction_of GO:0005594 ! collagen type IX trimer

[Term]
id: MONDO:0015628
name: von Willebrand disease type 2A
def: "Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers." [Orphanet:166084]
subset: gard_rare {source="GARD:17021", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166084"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "von Willebrand disease, type 2A" EXACT [NCIT:C131686]
xref: GARD:17021 {source="MONDO:GARD"}
xref: ICD10CM:D68.0 {source="Orphanet:166084/attributed", source="Orphanet:166084/ntbt", source="Orphanet:166084"}
xref: MEDGEN:220920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131686 {source="MONDO:equivalentTo"}
xref: Orphanet:166084 {source="MONDO:equivalentTo"}
xref: SCTID:359714009 {source="MONDO:equivalentTo"}
xref: UMLS:C1282968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220920"}
is_a: MONDO:0013304 {source="Orphanet:166084", source="https://orcid.org/0000-0001-5208-3432"} ! von Willebrand disease 2
is_a: MONDO:0019565 {source="MONDO:0015628/inferred", source="MONDO:Redundant", source="NCIT:C131686", source="Orphanet:166084/inferred"} ! hereditary von Willebrand disease
is_a: MONDO:0024574 {source="NCIT:C131686"} ! von Willebrand disease (hereditary or acquired)

[Term]
id: MONDO:0015629
name: von Willebrand disease type 2B
def: "A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma." [Orphanet:166087]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17022", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166087"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "von Willebrand disease type 2B" EXACT CLINGEN_LABEL []
synonym: "von Willebrand disease, type 2B" EXACT [NCIT:C131687]
xref: GARD:17022 {source="MONDO:GARD"}
xref: ICD10CM:D68.0 {source="Orphanet:166087", source="Orphanet:166087/attributed", source="Orphanet:166087/ntbt"}
xref: MEDGEN:224831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131687 {source="MONDO:equivalentTo"}
xref: Orphanet:166087 {source="MONDO:equivalentTo"}
xref: SCTID:359717002 {source="MONDO:equivalentTo"}
xref: SCTID:359721009 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1282971 {source="MEDGEN:224831", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013304 {source="Orphanet:166087", source="https://orcid.org/0000-0001-5208-3432"} ! von Willebrand disease 2
is_a: MONDO:0019565 {source="MONDO:0015629/inferred", source="MONDO:Redundant", source="NCIT:C131687", source="Orphanet:166087/inferred"} ! hereditary von Willebrand disease
is_a: MONDO:0024574 {source="NCIT:C131687"} ! von Willebrand disease (hereditary or acquired)

[Term]
id: MONDO:0015630
name: von Willebrand disease type 2M
def: "A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers." [Orphanet:166090]
comment: Editor note: 2 sctitds refer to same disease
subset: gard_rare {source="GARD:17023", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166090"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "von Willebrand disease, type 2M" EXACT [NCIT:C131688]
xref: GARD:17023 {source="MONDO:GARD"}
xref: ICD10CM:D68.0 {source="Orphanet:166090", source="Orphanet:166090/attributed", source="Orphanet:166090/ntbt"}
xref: MEDGEN:266186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131688 {source="MONDO:equivalentTo"}
xref: Orphanet:166090 {source="MONDO:equivalentTo"}
xref: SCTID:359725000 {source="MONDO:equivalentTo"}
xref: SCTID:359729006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1282974 {source="MEDGEN:266186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013304 {source="Orphanet:166090", source="https://orcid.org/0000-0001-5208-3432"} ! von Willebrand disease 2
is_a: MONDO:0019565 {source="MONDO:0015630/inferred", source="MONDO:Redundant", source="NCIT:C131688", source="Orphanet:166090/inferred"} ! hereditary von Willebrand disease
is_a: MONDO:0024574 {source="NCIT:C131688"} ! von Willebrand disease (hereditary or acquired)

[Term]
id: MONDO:0015631
name: von Willebrand disease type 2N
def: "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII)." [Orphanet:166093]
subset: gard_rare {source="GARD:17024", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:166093"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "von Willebrand disease Normandy variant" EXACT [NCIT:C131689]
synonym: "von Willebrand disease, type 2N" EXACT [NCIT:C131689]
xref: GARD:17024 {source="MONDO:GARD"}
xref: ICD10CM:D68.0 {source="Orphanet:166093", source="Orphanet:166093/attributed", source="Orphanet:166093/ntbt"}
xref: MEDGEN:266187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131689 {source="MONDO:equivalentTo"}
xref: Orphanet:166093 {source="MONDO:equivalentTo"}
xref: SCTID:359732009 {source="MONDO:equivalentTo"}
xref: UMLS:C1282975 {source="MEDGEN:266187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013304 {source="Orphanet:166093", source="https://orcid.org/0000-0001-5208-3432"} ! von Willebrand disease 2
is_a: MONDO:0019565 {source="MONDO:0015631/inferred", source="MONDO:Redundant", source="NCIT:C131689", source="Orphanet:166093/inferred"} ! hereditary von Willebrand disease
is_a: MONDO:0024574 {source="NCIT:C131689"} ! von Willebrand disease (hereditary or acquired)

[Term]
id: MONDO:0015632
name: FASTKD2-related infantile mitochondrial encephalomyopathy
subset: gard_rare {source="GARD:17026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166105"}
subset: orphanet_rare {source="Orphanet:166105"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17026 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:166105", source="Orphanet:166105/attributed", source="Orphanet:166105/ntbt"}
xref: MEDGEN:1665220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166105 {source="MONDO:equivalentTo"}
xref: UMLS:C4755278 {source="MEDGEN:1665220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder

[Term]
id: MONDO:0015633
name: obsolete Bazex syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3693" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010535

[Term]
id: MONDO:0015634
name: isolated osteopoikilosis
def: "A osteopoikilosis (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: gard_rare {source="GARD:17027", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166119"}
subset: orphanet_rare {source="Orphanet:166119"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated osteopoikilosis (disease)" EXACT []
synonym: "nonsyndromic osteopoikilosis (disease)" EXACT [MONDO:patterns/isolated]
xref: GARD:17027 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:166119/inclusion", source="Orphanet:166119/ntbt", source="Orphanet:166119"}
xref: MEDGEN:318940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166119 {source="MONDO:equivalentTo"}
xref: UMLS:C1833699 {source="MEDGEN:318940", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001414 {source="https://orcid.org/0000-0002-4142-7153"} ! osteopoikilosis
intersection_of: MONDO:0001414 ! osteopoikilosis
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0015635
name: porokeratotic eccrine ostial and dermal duct nevus
def: "A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb." [NCIT:C4740]
subset: gard_rare {source="GARD:20070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166286"}
subset: orphanet_rare {source="Orphanet:166286"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "comedo nevus of the palm" EXACT [Orphanet:166286]
synonym: "linear eccrine Nevus with comedones" EXACT [NCIT:C4740]
synonym: "Porokeratotic eccrine duct and hair follicle Nevus" EXACT [NCIT:C4740]
synonym: "Porokeratotic eccrine nevus" EXACT [Orphanet:166286]
xref: GARD:20070 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:166286", source="Orphanet:166286/attributed", source="Orphanet:166286/ntbt"}
xref: MEDGEN:96880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4740 {source="MONDO:equivalentTo"}
xref: Orphanet:166286 {source="MONDO:equivalentTo"}
xref: SCTID:239118007 {source="MONDO:equivalentTo"}
xref: UMLS:C0473579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96880"}
is_a: MONDO:0005073 {source="Orphanet:166286"} ! melanocytic nevus
is_a: MONDO:0024482 {source="NCIT:C4740"} ! eccrine sweat gland hamartoma
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:166286", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited skin tumor
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare

[Term]
id: MONDO:0015636
name: dirofilariasis
def: "Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans." [MESH:D004184]
subset: gard_rare {source="GARD:11908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166291"}
subset: orphanet_rare {source="Orphanet:166291"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dirofilaria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dirofilaria disease or disorder" EXACT []
synonym: "Dirofilaria infectious disease" EXACT [DOID:1082]
synonym: "infection by Dirofilaria" EXACT [DOID:1082]
xref: DOID:1082 {source="EFO:0007239", source="MONDO:equivalentTo"}
xref: EFO:0007239 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:11908 {source="MONDO:GARD"}
xref: ICD10CM:B74.8 {source="Orphanet:166291", source="Orphanet:166291/ntbt", source="DOID:1082"}
xref: ICD9:125.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004184 {source="Orphanet:166291/e", source="EFO:0007239", source="MONDO:equivalentTo", source="Orphanet:166291", source="DOID:1082"}
xref: Orphanet:166291 {source="MONDO:equivalentTo"}
xref: SCTID:73328005 {source="MONDO:equivalentTo", source="DOID:1082"}
xref: UMLS:C0012602 {source="MEDGEN:4344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016075 {source="DOID:1082", source="MESH:D004184", source="Orphanet:166291"} ! filariasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6286 ! Dirofilaria
relationship: disease_has_infectious_agent NCBITaxon:6286 {source="MONDO:Wikidata"} ! Dirofilaria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis" xsd:anyURI {source="GARD:0011908"}

[Term]
id: MONDO:0015637
name: benign non-familial infantile seizures
subset: disease_grouping
subset: gard_rare {source="GARD:20071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:166295"}
subset: rare
xref: GARD:20071 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:166295/attributed", source="Orphanet:166295/ntbt", source="Orphanet:166295"}
xref: MEDGEN:1843116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166295 {source="MONDO:equivalentTo"}
xref: UMLS:C5680425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843116"}
is_a: MONDO:0015642 {source="Orphanet:166295"} ! benign partial infantile seizures

[Term]
id: MONDO:0015638
name: benign partial epilepsy of infancy with complex partial seizures
def: "Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal." [Orphanet:166299]
subset: gard_rare {source="GARD:20072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166299"}
subset: orphanet_rare {source="Orphanet:166299"}
subset: rare
xref: GARD:20072 {source="MONDO:GARD"}
xref: ICD10CM:G40.2 {source="Orphanet:166299", source="Orphanet:166299/attributed", source="Orphanet:166299/ntbt"}
xref: MEDGEN:1654146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166299 {source="MONDO:equivalentTo"}
xref: UMLS:C4749347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1654146"}
is_a: MONDO:0015637 {source="Orphanet:166299"} ! benign non-familial infantile seizures

[Term]
id: MONDO:0015639
name: benign partial epilepsy with secondarily generalized seizures in infancy
def: "Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal." [Orphanet:166302]
subset: gard_rare {source="GARD:20073", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166302"}
subset: orphanet_rare {source="Orphanet:166302"}
subset: rare
xref: GARD:20073 {source="MONDO:GARD"}
xref: ICD10CM:G40.1 {source="Orphanet:166302", source="Orphanet:166302/attributed", source="Orphanet:166302/ntbt"}
xref: MEDGEN:1656339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166302 {source="MONDO:equivalentTo"}
xref: UMLS:C4749728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1656339"}
is_a: MONDO:0015637 {source="Orphanet:166302"} ! benign non-familial infantile seizures

[Term]
id: MONDO:0015640
name: benign infantile seizures associated with mild gastroenteritis
def: "Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness." [Orphanet:166305]
subset: gard_rare {source="GARD:20074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166305"}
subset: orphanet_rare {source="Orphanet:166305"}
subset: rare
xref: GARD:20074 {source="MONDO:GARD"}
xref: MEDGEN:1647397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166305 {source="MONDO:equivalentTo"}
xref: SCTID:765756007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707564 {source="MEDGEN:1647397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015642 {source="Orphanet:166305"} ! benign partial infantile seizures

[Term]
id: MONDO:0015641
name: benign infantile focal epilepsy with midline spikes and wave during sleep
def: "Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region." [Orphanet:166308]
subset: gard_rare {source="GARD:20075", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166308"}
subset: orphanet_rare {source="Orphanet:166308"}
subset: rare
synonym: "benign infantile focal epilepsy with midline spikes and waves during sleep" RELATED [Orphanet:166308]
synonym: "BIMSE" EXACT ABBREVIATION [Orphanet:166308]
xref: GARD:20075 {source="MONDO:GARD"}
xref: MEDGEN:1663004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166308 {source="MONDO:equivalentTo"}
xref: UMLS:C4749346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1663004"}
is_a: MONDO:0015642 {source="Orphanet:166308"} ! benign partial infantile seizures

[Term]
id: MONDO:0015642
name: benign partial infantile seizures
subset: disease_grouping
subset: gard_rare {source="GARD:20076", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:166311"}
subset: rare
xref: GARD:20076 {source="MONDO:GARD"}
xref: MEDGEN:1842641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166311 {source="MONDO:equivalentTo"}
xref: UMLS:C5680426 {source="MEDGEN:1842641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020071 {source="Orphanet:166311"} ! infantile epilepsy syndrome

[Term]
id: MONDO:0015643
name: photosensitive epilepsy
def: "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights." [DOID:0060281, http://en.wikipedia.org/wiki/Photosensitive_epilepsy]
subset: gard_rare {source="GARD:5648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166409"}
subset: orphanet_rare {source="Orphanet:166409"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "photogenic epilepsy" EXACT [DOID:0060281]
synonym: "photoparoxysmal response" EXACT [DOID:0060281]
synonym: "PSE" RELATED ABBREVIATION [GARD:0005648]
xref: DOID:0060281 {source="MONDO:equivalentTo"}
xref: GARD:5648 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166409/ntbt", source="DOID:0060281", source="Orphanet:166409"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:132100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:166409 {source="MONDO:equivalentTo", source="DOID:0060281"}
xref: SCTID:95208000 {source="MONDO:equivalentTo"}
xref: UMLS:C0393720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98285"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166409"} ! reflex epilepsy
intersection_of: MONDO:0017768 ! reflex epilepsy
intersection_of: realized_in_response_to ECTO:0000007 ! exposure to visible light radiation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:132100"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy" xsd:anyURI {source="GARD:0005648"}

[Term]
id: MONDO:0015644
name: audiogenic seizures
def: "Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice)." [Orphanet:166415]
subset: gard_rare {source="GARD:20077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166415"}
subset: orphanet_rare {source="Orphanet:166415"}
subset: rare
xref: GARD:20077 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166415", source="Orphanet:166415/ntbt"}
xref: MEDGEN:155927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166415 {source="MONDO:equivalentTo"}
xref: SCTID:765216006 {source="MONDO:equivalentTo"}
xref: UMLS:C0751791 {source="MEDGEN:155927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017768 {source="Orphanet:166415"} ! reflex epilepsy

[Term]
id: MONDO:0015645
name: eating seizures
subset: gard_rare {source="GARD:20078", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166418"}
subset: orphanet_rare {source="Orphanet:166418"}
subset: rare
synonym: "eating epilepsy" EXACT [Orphanet:166418]
synonym: "eating reflex epilepsy" RELATED [Orphanet:166418]
xref: GARD:20078 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166418/ntbt", source="Orphanet:166418"}
xref: MEDGEN:581543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166418 {source="MONDO:equivalentTo"}
xref: SCTID:230450001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581543"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166418"} ! reflex epilepsy
intersection_of: MONDO:0017768 ! reflex epilepsy
intersection_of: realized_in_response_to GO:0042755 ! eating behavior

[Term]
id: MONDO:0015646
name: orgasm-induced seizures
def: "Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine." [Orphanet:166421]
subset: gard_rare {source="GARD:20079", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166421"}
subset: orphanet_rare {source="Orphanet:166421"}
subset: rare
xref: GARD:20079 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166421/ntbt", source="Orphanet:166421"}
xref: MEDGEN:1633277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166421 {source="MONDO:equivalentTo"}
xref: UMLS:C4706598 {source="MONDO:equivalentTo", source="MEDGEN:1633277", source="MONDO:MEDGEN"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166421"} ! reflex epilepsy
intersection_of: MONDO:0017768 ! reflex epilepsy
intersection_of: realized_in_response_to MF:0000061 ! orgasm

[Term]
id: MONDO:0015647
name: thinking seizures
def: "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed." [Orphanet:166424]
subset: gard_rare {source="GARD:20080", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166424"}
subset: orphanet_rare {source="Orphanet:166424"}
subset: rare
xref: GARD:20080 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166424", source="Orphanet:166424/ntbt"}
xref: MEDGEN:1647683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166424 {source="MONDO:equivalentTo"}
xref: SCTID:763622006 {source="MONDO:equivalentTo"}
xref: UMLS:C4706523 {source="MEDGEN:1647683", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166424"} ! reflex epilepsy
intersection_of: MONDO:0017768 ! reflex epilepsy
intersection_of: realized_in_response_to MF:0000013 ! thinking

[Term]
id: MONDO:0015648
name: startle epilepsy
def: "Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability." [Orphanet:166427]
subset: gard_rare {source="GARD:20081", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166427"}
subset: orphanet_rare {source="Orphanet:166427"}
subset: rare
xref: GARD:20081 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166427/ntbt", source="Orphanet:166427"}
xref: MEDGEN:1633187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166427 {source="MONDO:equivalentTo"}
xref: SCTID:763632004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706527 {source="MEDGEN:1633187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166427"} ! reflex epilepsy
intersection_of: MONDO:0017768 ! reflex epilepsy
intersection_of: realized_in_response_to GO:0001964 ! startle response

[Term]
id: MONDO:0015649
name: micturation-induced seizures
def: "Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases." [Orphanet:166430]
subset: gard_rare {source="GARD:20082", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166430"}
subset: orphanet_rare {source="Orphanet:166430"}
subset: rare
xref: GARD:20082 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:166430/ntbt", source="Orphanet:166430"}
xref: MEDGEN:1646690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166430 {source="MONDO:equivalentTo"}
xref: UMLS:C4706587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646690"}
is_a: MONDO:0017768 {source="MONDO:Redundant", source="Orphanet:166430"} ! reflex epilepsy
intersection_of: MONDO:0017768 ! reflex epilepsy
intersection_of: realized_in_response_to GO:0060073 ! micturition

[Term]
id: MONDO:0015650
name: epilepsy syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:20083", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:166463"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epileptic syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/343]
synonym: "syndromic epilepsy" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20083 {source="MONDO:GARD"}
xref: MEDGEN:1371141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166463 {source="MONDO:equivalentTo"}
xref: UMLS:C4505072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1371141"}
is_a: MONDO:0005027 {source="Orphanet:166463"} ! epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015955"} ! rare
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html" xsd:anyURI

[Term]
id: MONDO:0015651
name: obsolete neurocutaneous syndrome with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurocutaneous syndrome'
subset: ordo_group_of_disorders {source="Orphanet:166466"}
xref: GARD:20084 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166466 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0042983

[Term]
id: MONDO:0015652
name: obsolete chromosomal anomaly with epilepsy as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:166469"}
xref: GARD:20085 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166469 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015653
name: monogenic epilepsy
subset: disease_grouping
subset: gard_rare {source="GARD:20086", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:166472"}
subset: rare
synonym: "monogenic disease with epilepsy" EXACT [Orphanet:166472]
xref: GARD:20086 {source="MONDO:GARD"}
xref: MEDGEN:1842675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:166472 {source="MONDO:equivalentTo"}
xref: UMLS:C5680430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842675"}
is_a: MONDO:0005027 {source="Orphanet:166472"} ! epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015955"} ! rare

[Term]
id: MONDO:0015654
name: obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: epilepsy
subset: ordo_group_of_disorders {source="Orphanet:166475"}
xref: GARD:20087 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166475 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005027

[Term]
id: MONDO:0015655
name: obsolete cerebral malformation with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: cerebral malformation'
subset: ordo_group_of_disorders {source="Orphanet:166478"}
xref: GARD:20088 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166478 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016054

[Term]
id: MONDO:0015656
name: obsolete metabolic disease with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:166481"}
synonym: "metabolic diseases with epilepsy" EXACT [Orphanet:166481]
xref: GARD:20089 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166481 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0015657
name: obsolete inflammatory and autoimmune disease with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inflammatory disease' and 'autoimmune disease'.
subset: ordo_group_of_disorders {source="Orphanet:166484"}
xref: GARD:20090 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166484 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0007179
consider: MONDO:0021166

[Term]
id: MONDO:0015658
name: obsolete cerebral diseases of vascular origin with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: nervous system disorder'
subset: ordo_group_of_disorders {source="Orphanet:166487"}
xref: GARD:20091 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166487 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005071

[Term]
id: MONDO:0015659
name: obsolete infectious disease with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: infectious disease'
subset: ordo_group_of_disorders {source="Orphanet:166490"}
xref: GARD:20092 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166490 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005550

[Term]
id: MONDO:0015660
name: sporadic fetal brain disruption sequence
def: "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly." [Orphanet:1665]
subset: gard_rare {source="GARD:18734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1665"}
subset: ordo_malformation_syndrome {source="Orphanet:1665"}
subset: orphanet_rare {source="Orphanet:1665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18734 {source="MONDO:GARD"}
xref: ICD10CM:Q02 {source="Orphanet:1665", source="Orphanet:1665/ntbt"}
xref: MEDGEN:1636968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1665 {source="MONDO:equivalentTo"}
xref: SCTID:763717004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636968"}
is_a: MONDO:0002602 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system disorder

[Term]
id: MONDO:0015661
name: dextrocardia
def: "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects." [NCIT:P378]
subset: gard_rare {source="GARD:1827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1666"}
subset: ordo_morphological_anomaly {source="Orphanet:1666"}
subset: orphanet_rare {source="Orphanet:1666"}
subset: rare
synonym: "dextrocardia" EXACT [MONDO:ambiguous]
synonym: "dextrocardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "heart predominantly in right hemithorax" EXACT [DOID:9565]
xref: DOID:9565 {source="MONDO:equivalentTo"}
xref: GARD:1827 {source="MONDO:GARD"}
xref: HP:0001651 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q24.0 {source="Orphanet:1666", source="Orphanet:1666/e", source="DOID:9565"}
xref: icd11.foundation:1472687600 {source="MONDO:equivalentTo", source="Orphanet:1666"}
xref: ICD9:746.87 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10012592 {source="Orphanet:1666", source="Orphanet:1666/e"}
xref: MEDGEN:4255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003914 {source="MONDO:equivalentTo", source="Orphanet:1666", source="Orphanet:1666/e", source="DOID:9565"}
xref: NCIT:C84669 {source="MONDO:equivalentTo", source="DOID:9565"}
xref: Orphanet:1666 {source="MONDO:equivalentTo"}
xref: SCTID:156925007 {source="DOID:9565"}
xref: SCTID:27637000 {source="MONDO:equivalentTo", source="DOID:9565"}
xref: UMLS:C0011813 {source="MEDGEN:4255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005453 {source="DOID:9565", source="MESH:D003914"} ! congenital heart disease
is_a: MONDO:0018677 {source="Orphanet:1666"} ! visceral heterotaxy
relationship: disease_has_major_feature HP:0001651 ! Dextrocardia
property_value: IAO:0000589 "dextrocardia (disease)" xsd:string

[Term]
id: MONDO:0015662
name: obsolete hemorrhagic disorder due to an acquired coagulation factor defect
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:166775"}
synonym: "rare bleeding disorder due to an acquired coagulation factor defect" EXACT [Orphanet:166775]
synonym: "rare coagulopathy due to an acquired coagulation factor defect" EXACT [Orphanet:166775]
xref: GARD:20093 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:166775 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015663
name: diencephalic syndrome
def: "Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors." [Orphanet:1672]
subset: gard_rare {source="GARD:6276", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1052", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1672"}
subset: orphanet_rare {source="Orphanet:1672"}
subset: rare
synonym: "diencephalic cachexia" EXACT [Orphanet:1672]
synonym: "diencephalic syndrome of childhood" EXACT [Orphanet:1672]
synonym: "diencephalic syndrome of emaciation" EXACT [Orphanet:1672]
synonym: "diencephalic syndrome of infancy" EXACT [NCIT:C116955]
synonym: "Russell diencephalic cachexia" EXACT [Orphanet:1672]
synonym: "Russell syndrome" EXACT [Orphanet:1672]
xref: GARD:6276 {source="MONDO:GARD"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116955 {source="MONDO:equivalentTo"}
xref: NORD:1052 {source="MONDO:NORD"}
xref: Orphanet:1672 {source="MONDO:equivalentTo"}
xref: SCTID:237733001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342436 {source="MEDGEN:90981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C116955"} ! syndromic disease
is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted"} ! endocrine system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome" xsd:anyURI {source="GARD:0006276"}

[Term]
id: MONDO:0015664
name: idiopathic pulmonary artery dilatation
def: "Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases." [Orphanet:1676]
subset: gard_rare {source="GARD:6757", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1676"}
subset: orphanet_rare {source="Orphanet:1676"}
subset: rare
synonym: "idiopathic dilatation of the pulmonary artery" RELATED [GARD:0006757]
xref: GARD:6757 {source="MONDO:GARD"}
xref: MEDGEN:1842555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1676 {source="MONDO:equivalentTo"}
xref: UMLS:C1384816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842555"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6757/idiopathic-dilatation-of-the-pulmonary-artery" xsd:anyURI {source="GARD:0006757"}

[Term]
id: MONDO:0015665
name: scleromyxedema
def: "Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation." [https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema]
subset: gard_rare {source="GARD:7615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:167635"}
subset: orphanet_rare {source="Orphanet:167635"}
subset: rare
synonym: "Arndt-Gottron disease" EXACT [Orphanet:167635]
synonym: "generalised lichenoid papular eruption" EXACT OMO:0003005 []
synonym: "generalised papular and sclerodermoid" RELATED OMO:0003005 []
synonym: "generalised papular and sclerodermoid lichen myxedematosus" EXACT OMO:0003005 []
synonym: "generalized lichenoid papular eruption" EXACT [Orphanet:167635]
synonym: "generalized papular and sclerodermoid" RELATED [GARD:0007615]
synonym: "generalized papular and sclerodermoid lichen myxedematosus" EXACT [Orphanet:167635]
synonym: "lichen myxedematosus" RELATED [MESH:D053718]
synonym: "mucinosis, papular" RELATED [MESH:D053718]
synonym: "myxedematosus, lichen" RELATED [MESH:D053718]
synonym: "papular mucinosis" RELATED [MESH:D053718]
synonym: "Scleromyxedema" EXACT [NCIT:C85061]
synonym: "scleromyxoedema" EXACT [https://www.dermnetnz.org/topics/lichen-myxoedematosus/]
xref: GARD:7615 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:167635", source="Orphanet:167635/ntbt"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10055046 {source="Orphanet:167635", source="Orphanet:167635/e"}
xref: MEDGEN:120476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053718 {source="MONDO:equivalentTo", source="Orphanet:167635", source="Orphanet:167635/e"}
xref: NCIT:C85061 {source="MONDO:equivalentTo"}
xref: Orphanet:167635 {source="MONDO:equivalentTo"}
xref: SCTID:402468007 {source="MONDO:equivalentTo"}
xref: UMLS:C0263390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120476"}
is_a: MONDO:0002523 {source="MESH:D053718", source="MONDO:Redundant"} ! cutaneous mucinosis
is_a: MONDO:0018432 {source="MONDO:Redundant", source="Orphanet:167635", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! lichen myxedematosus
intersection_of: MONDO:0018432 ! lichen myxedematosus
intersection_of: has_characteristic PATO:0001566 ! distributed
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema" xsd:anyURI {source="GARD:0007615"}

[Term]
id: MONDO:0015666
name: familial idiopathic dilatation of the right atrium
def: "Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." [Orphanet:1677]
subset: gard_rare {source="GARD:18735", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1677"}
subset: ordo_morphological_anomaly {source="Orphanet:1677"}
subset: orphanet_rare {source="Orphanet:1677"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial idiopathic dilatation of the right atrium (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:18735 {source="MONDO:GARD"}
xref: ICD10CM:Q20.8 {source="Orphanet:1677", source="Orphanet:1677/attributed", source="Orphanet:1677/ntbt"}
xref: MEDGEN:901482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1677 {source="MONDO:equivalentTo"}
xref: SCTID:716773002 {source="MONDO:equivalentTo"}
xref: UMLS:C4274283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901482"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0030718 {source="https://github.com/monarch-initiative/mondo/issues/1175"} ! Right atrial enlargement
relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic cardiac malformation
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "familial idiopathic dilatation of the right atrium (disease)" xsd:string

[Term]
id: MONDO:0015667
name: acute myeloid leukemia by FAB classification
def: "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme." [NCIT:C27753]
subset: disease_grouping
subset: gard_rare {source="GARD:12760", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:167714"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute myeloid leukaemia" BROAD OMO:0003005 []
synonym: "acute myeloid leukaemia NOS" EXACT OMO:0003005 []
synonym: "acute myeloid leukaemia not otherwise categorised" EXACT OMO:0003005 []
synonym: "acute myeloid leukaemia not otherwise specified" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia" BROAD [NCIT:C27753]
synonym: "acute myeloid leukemia NOS" EXACT [NCIT:C27753]
synonym: "acute myeloid leukemia not otherwise categorized" EXACT [NCIT:C27753]
synonym: "acute myeloid leukemia not otherwise specified" EXACT [NCIT:C27753]
synonym: "acute myeloid leukemia, NOS" EXACT [NCIT:C27753]
synonym: "AML, NOS" EXACT [NCIT:C27753]
synonym: "unclassified acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "unclassified acute myeloid leukemia" EXACT [Orphanet:167714]
synonym: "unclassified AML" EXACT [Orphanet:167714]
xref: GARD:12760 {source="MONDO:GARD"}
xref: MEDGEN:1842303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27753 {source="MONDO:equivalentTo"}
xref: Orphanet:167714 {source="MONDO:equivalentTo"}
xref: UMLS:C5679583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842303"}
is_a: MONDO:0018874 {source="NCIT:C27753", source="Orphanet:167714"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia" xsd:anyURI {source="GARD:0012760"}

[Term]
id: MONDO:0015668
name: obsolete hereditary dentin defect
def: "OBSOLETE. The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions." [Orphanet:167759]
subset: ordo_group_of_disorders {source="Orphanet:167759"}
xref: GARD:20094 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:K00.5 {source="Orphanet:167759", source="Orphanet:167759/attributed", source="Orphanet:167759/ntbt"}
xref: Orphanet:167759 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015669
name: obsolete rare disease with dentinogenesis imperfecta
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:167762"}
xref: GARD:20095 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:167762 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015670
name: obsolete cardiomyopathy
is_obsolete: true
replaced_by: MONDO:0004994

[Term]
id: MONDO:0015671
name: obsolete diphtheria
is_obsolete: true
replaced_by: MONDO:0005504

[Term]
id: MONDO:0015672
name: diprosopus
def: "Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases." [Orphanet:1681]
subset: gard_rare {source="GARD:1876", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1681"}
subset: ordo_morphological_anomaly {source="Orphanet:1681"}
subset: orphanet_rare {source="Orphanet:1681"}
subset: rare
synonym: "craniofacial duplication" EXACT [Orphanet:1681]
synonym: "Diprosopia" EXACT [Orphanet:1681]
xref: GARD:1876 {source="MONDO:GARD"}
xref: MEDGEN:540123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1681 {source="MONDO:equivalentTo"}
xref: SCTID:62192003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266731 {source="MONDO:equivalentTo", source="MEDGEN:540123", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015673
name: obsolete rare cardiac tumor
def: "OBSOLETE. Any of the forms of heart neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:168194"}
synonym: "rare heart neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:20097 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:168194 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021209

[Term]
id: MONDO:0015674
name: late infantile neuronal ceroid lipofuscinosis
def: "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." [Orphanet:168491]
subset: gard_rare {source="GARD:17032", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amaurotic idiocy early juvenile type" RELATED []
synonym: "amaurotic idiocy late infantile type" RELATED []
synonym: "amaurotic idiocy, early juvenile type" RELATED []
synonym: "amaurotic idiocy, late infantile type" RELATED []
synonym: "Bielschowsky-jansky disease" RELATED []
synonym: "Bielschowsky-jansky type neuronal ceroid lipofuscinosis" RELATED []
synonym: "dollinger-Bielschowsky syndrome" RELATED []
synonym: "dollinger-Bielschowsky type neuronal ceroid lipofuscinosis" RELATED []
synonym: "Jansky-Bielschowsky disease" EXACT [Orphanet:168491]
synonym: "late infantile NCL" EXACT [Orphanet:168491]
synonym: "late-infantile neuronal ceroid lipofuscinosis" EXACT []
synonym: "LINCL" EXACT ABBREVIATION [Orphanet:168491]
xref: GARD:17032 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:168491", source="Orphanet:168491/attributed", source="Orphanet:168491/ntbt"}
xref: MEDGEN:9589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200153 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201242 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:168491 {source="MONDO:equivalentTo"}
xref: SCTID:14637005 {source="MONDO:equivalentTo"}
xref: UMLS:C0022340 {source="MEDGEN:9589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="Orphanet:168491/inferred", source="PMID:21723623"} ! lysosomal storage disease
relationship: disease_has_basis_in_disruption_of GO:0008240 {source="PMID:21723623"} ! tripeptidyl-peptidase activity
relationship: excluded_subClassOf MONDO:0019261 {source="https://orcid.org/0000-0001-5208-3432"} ! infantile neuronal ceroid lipofuscinosis
relationship: excluded_subClassOf MONDO:0020074 {source="Orphanet:168491", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy

[Term]
id: MONDO:0015675
name: distomatosis
def: "Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines." [Orphanet:1685]
subset: gard_rare {source="GARD:1891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1685"}
subset: rare
synonym: "distomiasis" EXACT [Orphanet:1685]
synonym: "fluke infection" EXACT [Orphanet:1685]
xref: GARD:1891 {source="MONDO:GARD"}
xref: ICD9:121.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:121.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:21251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1685 {source="MONDO:equivalentTo"}
xref: SCTID:26089000 {source="MONDO:equivalentTo"}
xref: UMLS:C0040820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21251"}
is_a: MONDO:0005135 {source="Orphanet:1685"} ! parasitic infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1891/distomatosis" xsd:anyURI {source="GARD:0001891"}

[Term]
id: MONDO:0015676
name: obsolete hyperandrogenism due to cortisone reductase deficiency
is_obsolete: true
replaced_by: MONDO:0000193

[Term]
id: MONDO:0015677
name: cardiac diverticulum
def: "Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse." [Orphanet:1686]
subset: gard_rare {source="GARD:1094", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1686"}
subset: ordo_morphological_anomaly {source="Orphanet:1686"}
subset: orphanet_rare {source="Orphanet:1686"}
subset: rare
synonym: "Cardiac diverticulum" EXACT [MONDO:ambiguous]
synonym: "cardiac diverticulum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:1094 {source="MONDO:GARD"}
xref: HP:0100571 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q24.8 {source="Orphanet:1686/ntbt", source="Orphanet:1686"}
xref: MEDGEN:903640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200234 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:1686 {source="MONDO:equivalentTo"}
xref: UMLS:C0546315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903640"}
is_a: MONDO:0019512 {source="Orphanet:1686"} ! congenital heart malformation
property_value: IAO:0000589 "cardiac diverticulum (disease)" xsd:string

[Term]
id: MONDO:0015678
name: dysplasia of head of femur, Meyer type
def: "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." [Orphanet:168621]
subset: gard_rare {source="GARD:20098", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168621"}
subset: orphanet_rare {source="Orphanet:168621"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20098 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:168621/attributed", source="Orphanet:168621/ntbt", source="Orphanet:168621"}
xref: MEDGEN:909364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:168621 {source="MONDO:equivalentTo"}
xref: SCTID:715861004 {source="MONDO:equivalentTo"}
xref: UMLS:C4274970 {source="MEDGEN:909364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="PMID:1906473", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015679
name: obsolete autosomal thrombocytopenia with normal platelets
subset: ordo_subtype_of_a_disorder {source="Orphanet:168629"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17041 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D69.4 {source="Orphanet:168629/attributed", source="Orphanet:168629/ntbt", source="Orphanet:168629"}
xref: Orphanet:168629 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015680
name: obsolete rare pervasive developmental disorder
def: "OBSOLETE. Rare pervasive developmental disorder." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:168778"}
synonym: "rare ASD" NARROW [Orphanet:168778]
synonym: "rare autism spectrum disorder" NARROW [Orphanet:168778]
synonym: "rare PDD" NARROW [Orphanet:168778]
synonym: "rare pervasive developmental disorder" NARROW [MONDO:patterns/rare]
xref: GARD:20099 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:F84.0 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"}
xref: ICD10CM:F84.1 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"}
xref: ICD10CM:F84.2 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"}
xref: ICD10CM:F84.3 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"}
xref: ICD10CM:F84.4 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"}
xref: ICD10CM:F84.5 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"}
xref: ICD10CM:F84.8 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"}
xref: ICD10CM:F84.9 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"}
xref: MedDRA:10061345 {source="Orphanet:168778", source="Orphanet:168778/e"}
xref: MESH:D002659 {source="Orphanet:168778", source="Orphanet:168778/e"}
xref: Orphanet:168778 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/Orphanet/ORDO/issues/21" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000594

[Term]
id: MONDO:0015681
name: childhood disintegrative disorder
def: "A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia." [https://orcid.org/0000-0001-5208-3432, Orphanet:168782]
subset: gard_rare {source="GARD:6040", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168782"}
subset: orphanet_rare {source="Orphanet:168782"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood disintegrative disease" EXACT [MONDO:0001726]
synonym: "dementia infantilis" EXACT [Orphanet:168782]
synonym: "disintegrative psychosis" EXACT [DOID:13487]
synonym: "heller syndrome" EXACT [Orphanet:168782]
synonym: "heller's syndrome" EXACT [DOID:13487]
synonym: "symbiotic psychosis" EXACT [DOID:13487]
xref: DOID:13487 {source="MONDO:equivalentTo"}
xref: GARD:6040 {source="MONDO:GARD"}
xref: ICD10CM:F84.3 {source="Orphanet:168782", source="Orphanet:168782/e", source="DOID:13487", source="Orphanet:168782/specific"}
xref: ICD9:299.1 {source="DOID:13487"}
xref: MedDRA:10008522 {source="Orphanet:168782", source="Orphanet:168782/e"}
xref: MEDGEN:472967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97164 {source="MONDO:equivalentTo", source="DOID:13487", source="MONDO:directSiblingOf"}
xref: Orphanet:168782 {source="MONDO:equivalentTo"}
xref: SCTID:191694008 {source="DOID:13487"}
xref: SCTID:61831009 {source="MONDO:relatedTo", source="DOID:13487"}
xref: SCTID:71961003 {source="MONDO:equivalentTo", source="DOID:13487", source="MONDO:directSiblingOf"}
xref: UMLS:C0236791 {source="MEDGEN:472967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000594 {source="DOID:13487", source="MONDO:Redundant", source="NCIT:C97164", source="Orphanet:168782"} ! pervasive developmental disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4537" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder" xsd:anyURI {source="GARD:0006040"}

[Term]
id: MONDO:0015682
name: obsolete primary peritoneal tumor
subset: ordo_group_of_disorders {source="Orphanet:168803"}
xref: GARD:20100 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:168803 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015683
name: obsolete primary malignant peritoneal tumor
subset: ordo_group_of_disorders {source="Orphanet:168807"}
xref: GARD:20101 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:C45.1 {source="Orphanet:168807/btnt", source="Orphanet:168807"}
xref: ICD10CM:C48.1 {source="Orphanet:168807/btnt", source="Orphanet:168807"}
xref: ICD10CM:C48.2 {source="Orphanet:168807/btnt", source="Orphanet:168807"}
xref: Orphanet:168807 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015684
name: obsolete malignant peritoneal mesothelioma
is_obsolete: true
replaced_by: MONDO:0005512

[Term]
id: MONDO:0015685
name: obsolete peritoneal cystic mesothelioma
is_obsolete: true
replaced_by: MONDO:0006363

[Term]
id: MONDO:0015686
name: primary peritoneal carcinoma
def: "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement." [NCIT:C40022]
subset: gard_rare {source="GARD:20103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168829"}
subset: orphanet_rare {source="Orphanet:168829"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EOPPC" EXACT ABBREVIATION [Orphanet:168829]
synonym: "Extra-ovarian primary peritoneal carcinoma" EXACT [Orphanet:168829]
synonym: "PPC" EXACT ABBREVIATION [NCIT:C40022, Orphanet:168829]
synonym: "primary peritoneal cancer" EXACT [NCIT:C40022]
synonym: "primary peritoneal carcinoma" EXACT [MONDO:ambiguous, NCIT:C40022]
synonym: "primary peritoneal carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "primary peritoneal serous carcinoma" EXACT [Orphanet:168829]
synonym: "serous surface papillary carcinoma" EXACT [Orphanet:168829]
xref: GARD:20103 {source="MONDO:GARD"}
xref: HP:0030406 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C48.2 {source="Orphanet:168829/ntbt", source="Orphanet:168829"}
xref: MEDGEN:269516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40022 {source="MONDO:equivalentTo"}
xref: Orphanet:168829 {source="MONDO:equivalentTo"}
xref: UMLS:C1514428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:269516"}
is_a: MONDO:0002113 {source="NCIT:C3538"} ! peritoneal carcinoma
property_value: IAO:0000589 "primary peritoneal carcinoma (disease)" xsd:string

[Term]
id: MONDO:0015687
name: chronic eosinophilic leukemia
subset: gard_rare {source="GARD:20104", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168940"}
subset: orphanet_rare {source="Orphanet:168940"}
subset: rare
synonym: "CEL" EXACT ABBREVIATION [NCIT:C4563]
synonym: "CEL/hypereosinophilic syndrome" EXACT [NCIT:C4563]
synonym: "CELNOS" RELATED ABBREVIATION [ONCOTREE:CELNOS]
synonym: "chronic eosinophilic leukemia" EXACT [NCIT:C4563]
synonym: "chronic eosinophilic leukemia, NOS" RELATED EXCLUDE [NCIT:C4563]
synonym: "chronic eosinophilic leukemia, not otherwise specified" RELATED EXCLUDE [NCIT:C4563]
synonym: "chronic eosinophilic leukemia/hypereosinophilic syndrome" EXACT [NCIT:C4563]
synonym: "eosinophilic leukaemia" EXACT OMO:0003005 []
synonym: "eosinophilic leukemia" EXACT [NCIT:C4563]
xref: DOID:0080367 {source="MONDO:equivalentTo"}
xref: GARD:20104 {source="MONDO:GARD"}
xref: ICDO:9964/3 {source="NCIT:C4563"}
xref: MedDRA:10065854 {source="Orphanet:168940", source="Orphanet:168940/e"}
xref: MEDGEN:91106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580364 {source="MONDO:equivalentTo"}
xref: NCIT:C4563 {source="MONDO:equivalentTo", source="EFO:1000178"}
xref: ONCOTREE:CELNOS {source="MONDO:equivalentTo"}
xref: Orphanet:168940 {source="MONDO:equivalentTo"}
xref: SCTID:188733003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91106"}
is_a: MONDO:0001014 {source="NCIT:C4563"} ! chronic leukemia
is_a: MONDO:0005059 {source="EFO:1000178", source="MONDO:Redundant", source="NCIT:C4563/inferred"} ! leukemia
is_a: MONDO:0005170 {source="EFO:1000178", source="MONDO:Redundant", source="NCIT:C4563/inferred", source="ONCOTREE:CELNOS/inferred"} ! myeloid neoplasm
is_a: MONDO:0020076 {source="MONDO:Redundant", source="NCIT:C4563", source="ONCOTREE:CELNOS", source="Orphanet:168940"} ! myeloproliferative neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4291" xsd:anyURI

[Term]
id: MONDO:0015688
name: myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
subset: disease_grouping
subset: gard_rare {source="GARD:20105", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:168943"}
subset: rare
synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" EXACT [MONDO:0000881]
synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1" EXACT [NCIT:C84270]
synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" EXACT [DOID:0080164]
synonym: "myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT [DOID:0080164, NCIT:C84270]
synonym: "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" EXACT [Orphanet:168943]
synonym: "myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement" EXACT [NCIT:C84270]
synonym: "myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT [NCIT:C84270]
xref: DOID:0080164 {source="MONDO:equivalentTo"}
xref: GARD:20105 {source="MONDO:GARD"}
xref: MEDGEN:417664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84270 {source="DOID:0080164", source="MONDO:equivalentTo"}
xref: Orphanet:168943 {source="MONDO:equivalentTo"}
xref: UMLS:C2827356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:417664"}
is_a: MONDO:0015756 {source="Orphanet:168943"} ! myeloid hemopathy
is_a: MONDO:0044881 {source="NCIT:C84270"} ! hematopoietic and lymphoid cell neoplasm
relationship: disease_has_major_feature HP:0001880 ! Eosinophilia
relationship: excluded_subClassOf MONDO:0005170 {source="DOID:0080164", source="https://orcid.org/0000-0001-5208-3432"} ! myeloid neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3845" xsd:anyURI

[Term]
id: MONDO:0015689
name: myeloid neoplasm associated with PDGFRA rearrangement
def: "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy." [Orphanet:168947]
subset: gard_rare {source="GARD:20106", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:168947"}
subset: orphanet_rare {source="Orphanet:168947"}
subset: rare
synonym: "myeloid and lymphoid neoplasms associated with PDGFRA rearrangement" EXACT [MONDO:0000882]
synonym: "myeloid and lymphoid neoplasms with PDGFRA rearrangement" EXACT [DOID:0080165, NCIT:C84275]
synonym: "myeloid/lymphoid neoplasm associated with PDGFRA rearrangement" RELATED [Orphanet:168947]
synonym: "myeloid/lymphoid neoplasms with PDGFRA rearrangement" EXACT [NCIT:C84275]
xref: DOID:0080165 {source="MONDO:equivalentTo"}
xref: GARD:20106 {source="MONDO:GARD"}
xref: ICD10CM:D47.1 {source="Orphanet:168947", source="Orphanet:168947/ntbt"}
xref: icd11.foundation:833355630 {source="MONDO:equivalentTo", source="Orphanet:168947", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9965/3 {source="NCIT:C84275"}
xref: MEDGEN:1620600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84275 {source="DOID:0080165", source="MONDO:equivalentTo"}
xref: ONCOTREE:MLNPDGFRA {source="MONDO:equivalentTo"}
xref: Orphanet:168947 {source="MONDO:equivalentTo"}
xref: SCTID:738527001 {source="MONDO:equivalentTo"}
xref: UMLS:C4545381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620600"}
is_a: MONDO:0015688 {source="DOID:0080165", source="NCIT:C84275", source="Orphanet:168947"} ! myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3845" xsd:anyURI

[Term]
id: MONDO:0015690
name: myeloid neoplasm associated with PDGFRB rearrangement
def: "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss." [Orphanet:168950]
subset: gard_rare {source="GARD:20107", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168950"}
subset: orphanet_rare {source="Orphanet:168950"}
subset: rare
synonym: "myeloid and lymphoid neoplasms with PDGFRB rearrangement" EXACT [DOID:0080166, NCIT:C84276]
synonym: "myeloid neoplasms associated with PDGFRB rearrangement" EXACT [MONDO:0000883]
synonym: "myeloid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276]
synonym: "myeloid/lymphoid neoplasm associated with PDGFRB rearrangement" RELATED [Orphanet:168950]
synonym: "myeloid/lymphoid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276]
xref: DOID:0080166 {source="MONDO:equivalentTo"}
xref: GARD:20107 {source="MONDO:GARD"}
xref: ICD10CM:D47.1 {source="Orphanet:168950", source="Orphanet:168950/ntbt"}
xref: icd11.foundation:625932159 {source="Orphanet:168950", source="MONDO:equivalentTo"}
xref: ICDO:9966/3 {source="NCIT:C84276"}
xref: MEDGEN:758646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84276 {source="DOID:0080166", source="MONDO:equivalentTo"}
xref: ONCOTREE:MLNPDGFRB {source="MONDO:equivalentTo"}
xref: Orphanet:168950 {source="MONDO:equivalentTo"}
xref: SCTID:724642009 {source="MONDO:equivalentTo"}
xref: UMLS:C3472621 {source="MEDGEN:758646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015688 {source="DOID:0080166", source="NCIT:C84276", source="Orphanet:168950"} ! myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3845" xsd:anyURI

[Term]
id: MONDO:0015691
name: hypereosinophilic syndrome
def: "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage." [Orphanet:168956]
subset: disease_grouping
subset: gard_rare {source="GARD:2804", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:168956"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eosinophilia" RELATED [DOID:999]
synonym: "eosinophilic leukocytosis" EXACT [DOID:999]
synonym: "HES" EXACT ABBREVIATION [Orphanet:168956]
synonym: "hypereosinophilic disease" EXACT []
synonym: "hypereosinophilic disorder" EXACT []
synonym: "hypereosinophilic syndrome" EXACT [MONDO:0004945, NCIT:C27038]
xref: DOID:999 {source="MONDO:equivalentTo"}
xref: EFO:1001467 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2804 {source="MONDO:GARD"}
xref: ICD10CM:D72.1 {source="DOID:999"}
xref: ICD9:288.3 {source="DOID:999"}
xref: ICDO:9964/3 {source="NCIT:C27038"}
xref: MedDRA:10048643 {source="Orphanet:168956", source="Orphanet:168956/e"}
xref: MEDGEN:280990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004802 {source="DOID:999"}
xref: MESH:D017681 {source="DOID:999", source="MONDO:equivalentTo", source="Orphanet:168956", source="Orphanet:168956/e"}
xref: NANDO:2200805 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200806 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27038 {source="MONDO:equivalentTo"}
xref: Orphanet:168956 {source="MONDO:equivalentTo"}
xref: SCTID:165524009 {source="DOID:999"}
xref: SCTID:191363000 {source="DOID:999"}
xref: SCTID:27955006 {source="DOID:999"}
xref: SCTID:418928000 {source="DOID:999"}
xref: SCTID:419455006 {source="MONDO:equivalentTo"}
xref: UMLS:C1540912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:280990"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C27038"} ! syndromic disease
is_a: MONDO:0004805 {source="DOID:999", source="MESH:D017681/inferred"} ! leukocyte disorder
is_a: MONDO:0016345 {source="Orphanet:168956"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0044972 ! eosinophil disorder
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_major_feature HP:0001880 ! Eosinophilia
relationship: disease_has_feature MONDO:0020076 {source="Orphanet:168956"} ! myeloproliferative neoplasm

[Term]
id: MONDO:0015692
name: refractory anemia with excess blasts in transformation
def: "Refractory anemia with excess blasts in transformation (RAEB-T) is characterized by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2." [NCIT:C27080]
subset: gard_rare {source="GARD:20108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168960"}
subset: orphanet_rare {source="Orphanet:168960"}
subset: rare
synonym: "RAEB-t" EXACT [Orphanet:168960]
xref: GARD:20108 {source="MONDO:GARD"}
xref: ICD9:238.73 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9984/3 {source="NCIT:C27080"}
xref: MedDRA:10038271 {source="Orphanet:168960", source="Orphanet:168960/e"}
xref: MEDGEN:124692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27080 {source="MONDO:equivalentTo"}
xref: Orphanet:168960 {source="MONDO:equivalentTo"}
xref: SCTID:110000005 {source="MONDO:equivalentTo"}
xref: UMLS:C0280028 {source="MEDGEN:124692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018881 {source="Orphanet:168960"} ! myelodysplastic syndrome
relationship: has_characteristic HP:0031375 ! Refractory
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI

[Term]
id: MONDO:0015693
name: obsolete composite lymphoma
is_obsolete: true
replaced_by: MONDO:0005710

[Term]
id: MONDO:0015694
name: malignant melanoma of the mucosa
def: "A melanoma (disease) that involves the mucosa." [MONDO:patterns/location]
subset: gard_rare {source="GARD:20110", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:168999"}
subset: orphanet_rare {source="Orphanet:168999"}
subset: rare
synonym: "melanoma (disease) of mucosa" EXACT []
synonym: "mucosa melanoma" EXACT []
synonym: "mucosa melanoma (disease)" EXACT [MONDO:patterns/location]
xref: GARD:20110 {source="MONDO:GARD"}
xref: MEDGEN:1676191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:168999 {source="MONDO:equivalentTo"}
xref: UMLS:C5191057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676191"}
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0000344 ! mucosa
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:168999", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0015695
name: combined immunodeficiency due to CRAC channel dysfunction
def: "A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:169090]
subset: gard_rare {source="GARD:17048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169090"}
subset: orphanet_rare {source="Orphanet:169090"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immune dysfunction due to T-cell inactivation due to calcium entry defect" EXACT [Orphanet:169090]
xref: GARD:17048 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:169090/attributed", source="Orphanet:169090/ntbt", source="Orphanet:169090"}
xref: MEDGEN:929240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169090 {source="MONDO:equivalentTo"}
xref: SCTID:717811007 {source="MONDO:equivalentTo"}
xref: UMLS:C4303571 {source="MEDGEN:929240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0015131 {source="PMID:26469693", source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency
relationship: disease_has_basis_in_disruption_of GO:0005262 ! calcium channel activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015696
name: Good syndrome
def: "Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections." [Orphanet:169105]
subset: gard_rare {source="GARD:8622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169105"}
subset: orphanet_rare {source="Orphanet:169105"}
subset: rare
synonym: "immunodeficiency with thymoma" RELATED [GARD:0008622]
synonym: "thymoma with hypogammaglobulinemia" EXACT [DOID:0060028]
synonym: "thymoma-immunodeficiency" EXACT []
synonym: "thymoma-immunodeficiency syndrome" EXACT [Orphanet:169105]
xref: DOID:0060028 {source="MONDO:equivalentTo"}
xref: GARD:8622 {source="MONDO:GARD"}
xref: icd11.foundation:812332735 {source="Orphanet:169105", source="MONDO:equivalentTo"}
xref: MEDGEN:67437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169105 {source="MONDO:equivalentTo"}
xref: SCTID:9893005 {source="MONDO:equivalentTo"}
xref: UMLS:C0221027 {source="MEDGEN:67437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015977 {source="DOID:0060028"} ! agammaglobulinemia
is_a: MONDO:0017769 {source="Orphanet:169105"} ! acquired immunodeficiency

[Term]
id: MONDO:0015697
name: immunoglobulin heavy chain deficiency
subset: gard_rare {source="GARD:20111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169110"}
subset: orphanet_rare {source="Orphanet:169110"}
subset: rare
xref: GARD:20111 {source="MONDO:GARD"}
xref: ICD10CM:D80.8 {source="Orphanet:169110/attributed", source="Orphanet:169110/ntbt", source="Orphanet:169110"}
xref: ICD9:279.03 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169110 {source="MONDO:equivalentTo"}
xref: SCTID:234539005 {source="MONDO:equivalentTo"}
xref: UMLS:C0398692 {source="MONDO:equivalentTo", source="MEDGEN:98309", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="PMID:16026747", source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0015698
name: transient hypogammaglobulinemia of infancy
def: "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span." [NCIT:P378]
subset: gard_rare {source="GARD:20112", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169139"}
subset: orphanet_rare {source="Orphanet:169139"}
subset: rare
synonym: "THI" EXACT ABBREVIATION [NCIT:C27071]
synonym: "transient hypogammaglobulinemia of infancy" EXACT [DOID:624, NCIT:C27071]
xref: DOID:624 {source="MONDO:equivalentTo"}
xref: GARD:20112 {source="MONDO:GARD"}
xref: ICD10CM:D80.7 {source="DOID:624", source="Orphanet:169139", source="MONDO:equivalentTo", source="Orphanet:169139/e", source="Orphanet:169139/specific"}
xref: icd11.foundation:1686370790 {source="Orphanet:169139", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:279.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10044388 {source="Orphanet:169139", source="Orphanet:169139/e"}
xref: MEDGEN:124421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200349 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200722 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27071 {source="DOID:624", source="MONDO:equivalentTo"}
xref: Orphanet:169139 {source="MONDO:equivalentTo"}
xref: SCTID:88714009 {source="DOID:624", source="MONDO:equivalentTo"}
xref: UMLS:C0272238 {source="MEDGEN:124421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003827 {source="DOID:624", source="NCIT:C27071"} ! transient hypogammaglobulinemia

[Term]
id: MONDO:0015699
name: immunodeficiency due to a classical component pathway complement deficiency
subset: gard_rare {source="GARD:15025", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:169147"}
subset: orphanet_rare {source="Orphanet:169147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immunodeficiency due to a C1, C4, or C2 component complement deficiency" EXACT [Orphanet:169147]
synonym: "immunodeficiency due to an early component of complement deficiency" EXACT [Orphanet:169147]
synonym: "immunodeficiency due to C1, C4, or C2 component complement deficiency" EXACT [Orphanet:169147]
xref: GARD:15025 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:169147/attributed", source="Orphanet:169147/ntbt", source="Orphanet:169147"}
xref: icd11.foundation:327609494 {source="Orphanet:169147", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:585054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169147 {source="MONDO:equivalentTo"}
xref: UMLS:C0398750 {source="MEDGEN:585054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003832 {source="Orphanet:169147"} ! complement deficiency

[Term]
id: MONDO:0015700
name: immunodeficiency due to a late component of complement deficiency
def: "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection." [https://orcid.org/0000-0001-5208-3432, PMID:20930072]
subset: gard_rare {source="GARD:17050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169150"}
subset: orphanet_rare {source="Orphanet:169150"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency of complement of terminal pathway" EXACT [Orphanet:169150]
synonym: "immunodeficiency due to a C5 to C9 component complement deficiency" EXACT [Orphanet:169150]
synonym: "immunodeficiency due to C5 to C9 component complement deficiency" EXACT [Orphanet:169150]
synonym: "terminal complement pathway deficiency" EXACT [Orphanet:169150]
xref: GARD:17050 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:169150/attributed", source="Orphanet:169150/ntbt", source="Orphanet:169150"}
xref: icd11.foundation:531050218 {source="MONDO:equivalentTo", source="Orphanet:169150", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:585067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169150 {source="MONDO:equivalentTo"}
xref: UMLS:C0398765 {source="MEDGEN:585067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003832 {source="MONDO:Redundant", source="Orphanet:169150"} ! complement deficiency
intersection_of: MONDO:0003832 ! complement deficiency
intersection_of: disease_has_basis_in_dysfunction_of GO:0005579 ! membrane attack complex

[Term]
id: MONDO:0015701
name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
def: "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus." [DOID:0060015, http://bioinf.uta.fi/IL7Rbase/]
subset: gard_rare {source="GARD:17051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169154"}
subset: orphanet_rare {source="Orphanet:169154"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IL-7R" EXACT [DOID:0060015]
synonym: "IL-7Ralpha deficiency" EXACT []
synonym: "interleukin-7 receptor alpha deficiency" RELATED [DOID:0060015]
synonym: "T-B+ SCID due to IL-7Ralpha deficiency" EXACT [Orphanet:169154]
xref: DOID:0060015 {source="MONDO:equivalentTo"}
xref: GARD:17051 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:169154/attributed", source="Orphanet:169154/ntbt", source="Orphanet:169154"}
xref: MEDGEN:1842915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169154 {source="MONDO:equivalentTo"}
xref: UMLS:C5679577 {source="MEDGEN:1842915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015974 {source="DOID:0060015", source="MONDO:0015701/inferred", source="Orphanet:169154/inferred"} ! severe combined immunodeficiency
is_a: MONDO:0044200 {source="Orphanet:169154"} ! T-B+ severe combined immunodeficiency
relationship: disease_disrupts GO:0045061 ! thymic T cell selection

[Term]
id: MONDO:0015702
name: T-B+ severe combined immunodeficiency due to CD45 deficiency
subset: gard_rare {source="GARD:17052", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169157"}
subset: orphanet_rare {source="Orphanet:169157"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD45 deficiency" EXACT [MONDO:0000574]
synonym: "T-B+ SCID due to CD45 deficiency" EXACT [Orphanet:169157]
xref: DOID:0060014 {source="MONDO:equivalentTo"}
xref: GARD:17052 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:169157", source="Orphanet:169157/attributed", source="Orphanet:169157/ntbt"}
xref: MEDGEN:1842877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169157 {source="MONDO:equivalentTo"}
xref: UMLS:C5679579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842877"}
is_a: MONDO:0015974 {source="DOID:0060014", source="MONDO:0015702/inferred", source="MONDO:Redundant", source="Orphanet:169157/inferred"} ! severe combined immunodeficiency
is_a: MONDO:0044200 {source="Orphanet:169157"} ! T-B+ severe combined immunodeficiency

[Term]
id: MONDO:0015703
name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
subset: gard_rare {source="GARD:17053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169160"}
subset: orphanet_rare {source="Orphanet:169160"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta" EXACT [Orphanet:169160]
xref: GARD:17053 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:169160", source="Orphanet:169160/attributed", source="Orphanet:169160/ntbt"}
xref: MEDGEN:1842819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169160 {source="MONDO:equivalentTo"}
xref: UMLS:C5679578 {source="MEDGEN:1842819", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044200 {source="Orphanet:169160"} ! T-B+ severe combined immunodeficiency

[Term]
id: MONDO:0015704
name: familial scaphocephaly syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:20113", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:169163"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20113 {source="MONDO:GARD"}
xref: ICD10CM:Q75.0 {source="Orphanet:169163/attributed", source="Orphanet:169163/ntbt", source="Orphanet:169163"}
xref: MedDRA:10072229 {source="Orphanet:169163/e", source="Orphanet:169163"}
xref: MEDGEN:797875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169163 {source="MONDO:equivalentTo"}
xref: UMLS:C3267076 {source="MONDO:equivalentTo", source="MEDGEN:797875", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:169163"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:16061565 --> https://jmg.bmj.com/content/42/8/656", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015705
name: autosomal recessive centronuclear myopathy
def: "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." [Orphanet:169186]
subset: gard_rare {source="GARD:12718", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:169186"}
subset: orphanet_rare {source="Orphanet:169186"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-CNM" EXACT [Orphanet:169186]
synonym: "centronuclear myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:0111216 {source="MONDO:equivalentTo"}
xref: GARD:12718 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:169186/attributed", source="Orphanet:169186/ntbt", source="Orphanet:169186"}
xref: MEDGEN:771131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169186 {source="MONDO:equivalentTo"}
xref: SCTID:240081004 {source="MONDO:equivalentTo"}
xref: UMLS:C3645536 {source="MEDGEN:771131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018947 {source="MONDO:Redundant", source="Orphanet:169186"} ! centronuclear myopathy
is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy
intersection_of: MONDO:0018947 ! centronuclear myopathy
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0015706
name: mosaic trisomy 1
subset: gard_rare {source="GARD:18736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1692"}
subset: ordo_malformation_syndrome {source="Orphanet:1692"}
subset: orphanet_rare {source="Orphanet:1692"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mosaic trisomy chromosome 1" EXACT [Orphanet:1692]
synonym: "Mosaic trisomy type 1" EXACT [MONDORULE:1, Orphanet:1692]
synonym: "trisomy 1 mosaicism" EXACT [Orphanet:1692]
xref: GARD:18736 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1692", source="Orphanet:1692/attributed", source="Orphanet:1692/ntbt"}
xref: MEDGEN:1709039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1692 {source="MONDO:equivalentTo"}
xref: UMLS:C5394675 {source="MEDGEN:1709039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr1 ! chromosome 1 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0015707
name: obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies
subset: ordo_group_of_disorders {source="Orphanet:169346"}
xref: GARD:20114 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1362501774 {source="Orphanet:169346", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:169346 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3191" xsd:anyURI
is_obsolete: true
consider: MONDO:0018035

[Term]
id: MONDO:0015708
name: immuno-osseous dysplasia
subset: disease_grouping
subset: gard_rare {source="GARD:20115", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:169349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20115 {source="MONDO:GARD"}
xref: icd11.foundation:1948303413 {source="MONDO:equivalentTo", source="Orphanet:169349"}
xref: MEDGEN:609410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169349 {source="MONDO:equivalentTo"}
xref: SCTID:254067002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609410"}
is_a: MONDO:0003778 {source="PMID:33609053", source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0015709
name: obsolete immunodeficiency syndrome with autoimmunity
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency disease'
subset: ordo_group_of_disorders {source="Orphanet:169355"}
xref: GARD:20116 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1902856995 {source="Orphanet:169355", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:169355 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021094

[Term]
id: MONDO:0015710
name: obsolete immune dysregulation disease with immunodeficiency
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency due to a defect in adaptive immunity'
subset: ordo_group_of_disorders {source="Orphanet:169361"}
xref: GARD:20117 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:169361 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015823

[Term]
id: MONDO:0015711
name: obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency predominantly affecting antibody production'
subset: ordo_group_of_disorders {source="Orphanet:169443"}
xref: GARD:20118 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D80.6 {source="Orphanet:169443", source="Orphanet:169443/e", source="Orphanet:169443/specific"}
xref: icd11.foundation:29897844 {source="Orphanet:169443", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"}
xref: NANDO:1200348 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200721 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:169443 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015132

[Term]
id: MONDO:0015712
name: non-distal trisomy 10q
def: "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism." [Orphanet:1695]
subset: gard_rare {source="GARD:18737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1695"}
subset: ordo_malformation_syndrome {source="Orphanet:1695"}
subset: orphanet_rare {source="Orphanet:1695"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-distal duplication 10q" EXACT [Orphanet:1695]
synonym: "non-distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:1695]
synonym: "non-telomeric trisomy 10q" EXACT [Orphanet:1695]
xref: GARD:18737 {source="MONDO:GARD"}
xref: MEDGEN:1664181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1695 {source="MONDO:equivalentTo"}
xref: UMLS:C4749376 {source="MEDGEN:1664181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016961 {source="Orphanet:1695"} ! partial duplication of the long arm of chromosome 10
relationship: disease_arises_from_structure CHR:9606-chr10q {source="https://orcid.org/0000-0002-4142-7153"} ! 10q (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1695", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0015713
name: idiopathic central precocious puberty
subset: inferred_rare
subset: ordo_etiological_subtype {source="Orphanet:169615"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: ICD10CM:E22.8 {source="Orphanet:169615", source="Orphanet:169615/attributed", source="Orphanet:169615/ntbt"}
xref: ICD9:259.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120372 {source="MONDO:equivalentTo"}
xref: Orphanet:169615 {source="MONDO:equivalentTo"}
xref: SCTID:237817008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575094"}
is_a: MONDO:0019165 {source="Orphanet:169615"} ! central precocious puberty
intersection_of: MONDO:0019165 ! central precocious puberty
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
relationship: excluded_subClassOf MONDO:0015513 {source="Orphanet:169615", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic endocrine disease
relationship: excluded_subClassOf MONDO:0016072 {source="Orphanet:169615", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete anomaly of puberty or/and menstrual cycle of genetic origin

[Term]
id: MONDO:0015714
name: secondary central precocious puberty
subset: inferred_rare
subset: ordo_etiological_subtype {source="Orphanet:169618"}
subset: rare
xref: ICD10CM:E22.8 {source="Orphanet:169618", source="Orphanet:169618/ntbt"}
xref: Orphanet:169618 {source="MONDO:equivalentTo"}
is_a: MONDO:0019165 {source="Orphanet:169618"} ! central precocious puberty

[Term]
id: MONDO:0015715
name: severe hemophilia B
def: "Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169793]
subset: gard_rare {source="GARD:17056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:169793"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "severe factor IX deficiency" EXACT [Orphanet:169793]
synonym: "severe haemophilia type B" EXACT OMO:0003005 []
synonym: "severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169793]
xref: GARD:17056 {source="MONDO:GARD"}
xref: ICD10CM:D67 {source="Orphanet:169793/attributed", source="Orphanet:169793/ntbt", source="Orphanet:169793"}
xref: MEDGEN:1826004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169793 {source="MONDO:equivalentTo"}
xref: UMLS:C5679576 {source="MEDGEN:1826004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010604 {source="Orphanet:169793"} ! hemophilia B

[Term]
id: MONDO:0015716
name: moderately severe hemophilia B
def: "Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169796]
subset: gard_rare {source="GARD:17057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:169796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "moderately severe factor IX deficiency" EXACT [Orphanet:169796]
synonym: "moderately severe haemophilia type B" EXACT OMO:0003005 []
synonym: "moderately severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169796]
xref: GARD:17057 {source="MONDO:GARD"}
xref: ICD10CM:D67 {source="Orphanet:169796/attributed", source="Orphanet:169796/ntbt", source="Orphanet:169796"}
xref: MEDGEN:1842225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169796 {source="MONDO:equivalentTo"}
xref: UMLS:C5679575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842225"}
is_a: MONDO:0010604 {source="Orphanet:169796"} ! hemophilia B

[Term]
id: MONDO:0015717
name: mild hemophilia B
def: "Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169799]
subset: gard_rare {source="GARD:17058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:169799"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mild factor IX deficiency" EXACT [Orphanet:169799]
synonym: "mild haemophilia type B" EXACT OMO:0003005 []
synonym: "mild hemophilia type B" EXACT [MONDORULE:1, Orphanet:169799]
xref: GARD:17058 {source="MONDO:GARD"}
xref: ICD10CM:D67 {source="Orphanet:169799/attributed", source="Orphanet:169799/ntbt", source="Orphanet:169799"}
xref: MEDGEN:1826003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169799 {source="MONDO:equivalentTo"}
xref: UMLS:C5679574 {source="MEDGEN:1826003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010604 {source="Orphanet:169799"} ! hemophilia B

[Term]
id: MONDO:0015718
name: mosaic trisomy 12
def: "Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported." [Orphanet:1698]
subset: gard_rare {source="GARD:5304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1698"}
subset: ordo_malformation_syndrome {source="Orphanet:1698"}
subset: orphanet_rare {source="Orphanet:1698"}
subset: rare
synonym: "Mosaic trisomy chromosome 12" EXACT [Orphanet:1698]
synonym: "Mosaic trisomy type 12" EXACT [MONDORULE:2, Orphanet:1698]
synonym: "trisomy 12 mosaicism" EXACT [Orphanet:1698]
xref: GARD:5304 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1698", source="Orphanet:1698/attributed", source="Orphanet:1698/ntbt"}
xref: MEDGEN:1631133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1698 {source="MONDO:equivalentTo"}
xref: SCTID:764463001 {source="MONDO:equivalentTo"}
xref: UMLS:C4706889 {source="MEDGEN:1631133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr12 ! chromosome 12 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0015719
name: severe hemophilia A
def: "Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169802]
subset: gard_rare {source="GARD:17059", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:169802"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "severe factor VIII deficiency" EXACT [Orphanet:169802]
synonym: "severe haemophilia type A" EXACT OMO:0003005 []
synonym: "severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169802]
xref: GARD:17059 {source="MONDO:GARD"}
xref: ICD10CM:D66 {source="Orphanet:169802", source="Orphanet:169802/attributed", source="Orphanet:169802/ntbt"}
xref: MEDGEN:543973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169802 {source="MONDO:equivalentTo"}
xref: SCTID:16872008 {source="MONDO:equivalentTo"}
xref: UMLS:C0272322 {source="MONDO:equivalentTo", source="MEDGEN:543973", source="MONDO:MEDGEN"}
is_a: MONDO:0010602 {source="Orphanet:169802"} ! hemophilia A

[Term]
id: MONDO:0015720
name: moderately severe hemophilia A
def: "Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169805]
subset: gard_rare {source="GARD:17060", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:169805"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "moderately severe factor VIII deficiency" EXACT [Orphanet:169805]
synonym: "moderately severe haemophilia type A" EXACT OMO:0003005 []
synonym: "moderately severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169805]
xref: GARD:17060 {source="MONDO:GARD"}
xref: ICD10CM:D66 {source="Orphanet:169805", source="Orphanet:169805/attributed", source="Orphanet:169805/ntbt"}
xref: MEDGEN:543974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169805 {source="MONDO:equivalentTo"}
xref: UMLS:C0272323 {source="MEDGEN:543974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010602 {source="Orphanet:169805"} ! hemophilia A

[Term]
id: MONDO:0015721
name: mild hemophilia A
def: "Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169808]
subset: gard_rare {source="GARD:17061", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:169808"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mild factor VIII deficiency" EXACT [Orphanet:169808]
synonym: "mild haemophilia type A" EXACT OMO:0003005 []
synonym: "mild hemophilia type A" EXACT [MONDORULE:1, Orphanet:169808]
xref: GARD:17061 {source="MONDO:GARD"}
xref: ICD10CM:D66 {source="Orphanet:169808/attributed", source="Orphanet:169808/ntbt", source="Orphanet:169808"}
xref: MEDGEN:543975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:169808 {source="MONDO:equivalentTo"}
xref: SCTID:26029002 {source="MONDO:equivalentTo"}
xref: UMLS:C0272324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543975"}
is_a: MONDO:0010602 {source="Orphanet:169808"} ! hemophilia A

[Term]
id: MONDO:0015722
name: congenital vitamin K-dependent coagulation factors deficiency
def: "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." [https://orcid.org/0000-0002-6601-2165]
subset: disease_grouping
subset: gard_rare {source="GARD:20121", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98434"}
subset: ordo_group_of_disorders {source="Orphanet:169826"}
subset: orphanet_rare {source="Orphanet:98434"}
subset: rare
synonym: "congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [OMIMPS:277450]
synonym: "vitamin K-dependent clotting factors, combined deficiency of" EXACT [OMIMPS:277450]
xref: DOID:0112172 {source="MONDO:equivalentTo"}
xref: GARD:20121 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:169826/attributed", source="Orphanet:169826/ntbt", source="Orphanet:169826"}
xref: icd11.foundation:54644599 {source="Orphanet:98434", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:1378036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:277450 {source="MONDO:equivalentTo"}
xref: Orphanet:169826 {source="MONDO:equivalentTo"}
xref: Orphanet:98434 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C4510617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378036"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:277450"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0015723
name: trisomy 12p
def: "Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities." [Orphanet:1699]
subset: gard_rare {source="GARD:5305", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1699"}
subset: ordo_malformation_syndrome {source="Orphanet:1699"}
subset: orphanet_rare {source="Orphanet:1699"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "12p duplication" RELATED [GARD:0005305]
synonym: "12p trisomy" RELATED [GARD:0005305]
synonym: "chromosome 12p duplication" RELATED [GARD:0005305]
synonym: "Duplication 12p" EXACT [Orphanet:1699]
synonym: "partial trisomy 12p" RELATED [GARD:0005305]
synonym: "trisomy type 12p" EXACT [MONDORULE:4, Orphanet:1699]
xref: GARD:5305 {source="MONDO:GARD"}
xref: MEDGEN:162880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538299 {source="MONDO:equivalentTo"}
xref: Orphanet:1699 {source="MONDO:equivalentTo"}
xref: UMLS:C0795845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162880"}
is_a: MONDO:0016933 {source="Orphanet:1699"} ! partial trisomy/tetrasomy of the short arm of chromosome 12
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy

[Term]
id: MONDO:0015724
name: non-distal trisomy 13q
def: "Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated." [Orphanet:1702]
subset: gard_rare {source="GARD:18738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1702"}
subset: ordo_malformation_syndrome {source="Orphanet:1702"}
subset: orphanet_rare {source="Orphanet:1702"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-distal duplication 13q" EXACT [Orphanet:1702]
synonym: "non-distal trisomy type 13q" EXACT [MONDORULE:4, Orphanet:1702]
synonym: "non-telomeric trisomy 13q" EXACT [Orphanet:1702]
xref: GARD:18738 {source="MONDO:GARD"}
xref: MEDGEN:1637117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1702 {source="MONDO:equivalentTo"}
xref: SCTID:764996009 {source="MONDO:equivalentTo"}
xref: UMLS:C4707260 {source="MEDGEN:1637117", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0022177 {source="Orphanet:1702"} ! chromosome 13q trisomy
relationship: disease_arises_from_structure CHR:9606-chr13q {source="https://orcid.org/0000-0002-4142-7153"} ! 13q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0015725
name: mosaic trisomy 14
def: "Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual." [https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14]
subset: gard_rare {source="GARD:1327", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1703"}
subset: ordo_malformation_syndrome {source="Orphanet:1703"}
subset: orphanet_rare {source="Orphanet:1703"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mosaic trisomy chromosome 14" RELATED [GARD:0001327]
synonym: "Mosaic trisomy type 14" EXACT [MONDORULE:2, Orphanet:1703]
synonym: "trisomy 14 mosaicism" RELATED [GARD:0001327]
xref: GARD:1327 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1703", source="Orphanet:1703/attributed", source="Orphanet:1703/ntbt"}
xref: MEDGEN:418947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535489 {source="Orphanet:1703/e", source="MONDO:equivalentTo", source="Orphanet:1703"}
xref: NCIT:C116319 {source="MONDO:equivalentTo"}
xref: Orphanet:1703 {source="MONDO:equivalentTo"}
xref: SCTID:764466009 {source="MONDO:equivalentTo"}
xref: UMLS:C2930917 {source="MONDO:equivalentTo", source="MEDGEN:418947", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr14 ! chromosome 14 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14" xsd:anyURI {source="GARD:0001327"}

[Term]
id: MONDO:0015726
name: distal trisomy 14q
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:18739", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1705"}
subset: ordo_malformation_syndrome {source="Orphanet:1705"}
subset: orphanet_rare {source="Orphanet:1705"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal duplication 14q" EXACT [Orphanet:1705]
synonym: "distal trisomy type 14q" EXACT [MONDORULE:4, Orphanet:1705]
synonym: "telomeric duplication 14q" EXACT [Orphanet:1705]
synonym: "trisomy 14qter" EXACT [Orphanet:1705]
xref: GARD:18739 {source="MONDO:GARD"}
xref: MEDGEN:444122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538034 {source="Orphanet:1705/e", source="MONDO:equivalentTo", source="Orphanet:1705"}
xref: Orphanet:1705 {source="MONDO:equivalentTo"}
xref: UMLS:C2931702 {source="MEDGEN:444122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0016964 {source="Orphanet:1705"} ! partial duplication of the long arm of chromosome 14
relationship: disease_arises_from_structure CHR:9606-chr14q {source="https://orcid.org/0000-0002-4142-7153"} ! 14q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0015727
name: mosaic trisomy 15
def: "Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported." [Orphanet:1706]
subset: gard_rare {source="GARD:5313", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1706"}
subset: ordo_malformation_syndrome {source="Orphanet:1706"}
subset: orphanet_rare {source="Orphanet:1706"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 15, trisomy mosaicism" RELATED [GARD:0005313]
synonym: "Mosaic trisomy chromosome 15" EXACT [Orphanet:1706]
synonym: "Mosaic trisomy type 15" EXACT [MONDORULE:2, Orphanet:1706]
synonym: "trisomy 15 mosaicism" EXACT [Orphanet:1706]
xref: GARD:5313 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1706/attributed", source="Orphanet:1706/ntbt", source="Orphanet:1706"}
xref: MEDGEN:419475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538037 {source="Orphanet:1706/e", source="MONDO:equivalentTo", source="Orphanet:1706"}
xref: Orphanet:1706 {source="MONDO:equivalentTo"}
xref: SCTID:764619001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419475"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr15 ! chromosome 15 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0015728
name: distal trisomy 15q
subset: gard_rare {source="GARD:18740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:942"}
subset: ordo_etiological_subtype {source="Orphanet:1707"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1707"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chromosome 15, Distal Trisomy 15q" EXACT [NORD:942]
synonym: "distal duplication 15q" EXACT [Orphanet:1707]
synonym: "distal trisomy type 15q" EXACT [MONDORULE:4, Orphanet:1707]
synonym: "telomeric duplication 15q" EXACT [Orphanet:1707]
synonym: "trisomy 15qter" EXACT [Orphanet:1707]
xref: GARD:18740 {source="MONDO:GARD"}
xref: MEDGEN:419879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538036 {source="Orphanet:1707/e", source="MONDO:equivalentTo", source="Orphanet:1707"}
xref: NORD:942 {source="MONDO:NORD"}
xref: Orphanet:1707 {source="MONDO:equivalentTo"}
xref: UMLS:C2931705 {source="MEDGEN:419879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017806 {source="Orphanet:1707"} ! 15q overgrowth syndrome
relationship: disease_arises_from_structure CHR:9606-chr15q {source="https://orcid.org/0000-0002-4142-7153"} ! 15q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0015729
name: mosaic trisomy 16
def: "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay." [Orphanet:1708]
subset: gard_rare {source="GARD:18741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1708"}
subset: ordo_malformation_syndrome {source="Orphanet:1708"}
subset: orphanet_rare {source="Orphanet:1708"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mosaic trisomy chromosome 16" EXACT [Orphanet:1708]
synonym: "Mosaic trisomy type 16" EXACT [MONDORULE:2, Orphanet:1708]
synonym: "trisomy 16 mosaicism" EXACT [Orphanet:1708]
xref: GARD:18741 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1708", source="Orphanet:1708/attributed", source="Orphanet:1708/ntbt"}
xref: MEDGEN:1633950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538041 {source="MONDO:equivalentTo"}
xref: Orphanet:1708 {source="MONDO:equivalentTo"}
xref: SCTID:764621006 {source="MONDO:equivalentTo"}
xref: UMLS:C4707009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633950"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0015730
name: mosaic trisomy 17
def: "Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported." [Orphanet:1711]
subset: gard_rare {source="GARD:5317", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1711"}
subset: ordo_malformation_syndrome {source="Orphanet:1711"}
subset: orphanet_rare {source="Orphanet:1711"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 17 duplication" RELATED [GARD:0005317]
synonym: "chromosome 17 trisomy" RELATED [GARD:0005317]
synonym: "chromosome 17, trisomy" RELATED [GARD:0005317]
synonym: "chromosome 17, trisomy mosaicism" RELATED [GARD:0005317]
synonym: "Mosaic trisomy chromosome 17" EXACT [Orphanet:1711]
synonym: "Mosaic trisomy type 17" EXACT [MONDORULE:2, Orphanet:1711]
synonym: "trisomy 17" RELATED [GARD:0005317]
synonym: "trisomy 17 mosaicism" EXACT [Orphanet:1711]
xref: GARD:5317 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1711", source="Orphanet:1711/attributed", source="Orphanet:1711/ntbt"}
xref: MEDGEN:202107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538044 {source="MONDO:equivalentTo"}
xref: NCIT:C37865 {source="MONDO:relatedTo"}
xref: Orphanet:1711 {source="MONDO:equivalentTo"}
xref: SCTID:764622004 {source="MONDO:equivalentTo"}
xref: UMLS:C1096168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:202107"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr17 ! chromosome 17 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0015731
name: high anorectal malformation
def: "High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence." [Orphanet:171201]
xref: ICD10CM:Q42.0 {source="Orphanet:171201/attributed", source="Orphanet:171201/ntbt", source="Orphanet:171201"}
xref: ICD10CM:Q42.1 {source="Orphanet:171201/attributed", source="Orphanet:171201/ntbt", source="Orphanet:171201"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:576820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171201 {source="MONDO:equivalentObsolete"}
xref: SCTID:253771003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345210 {source="MEDGEN:576820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015732
name: intermediate anorectal malformation
def: "Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections." [Orphanet:171208]
xref: ICD10CM:Q42.0 {source="Orphanet:171208", source="Orphanet:171208/attributed", source="Orphanet:171208/ntbt"}
xref: ICD10CM:Q42.1 {source="Orphanet:171208", source="Orphanet:171208/attributed", source="Orphanet:171208/ntbt"}
xref: MEDGEN:1371993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171208 {source="MONDO:equivalentObsolete"}
xref: SCTID:734024009 {source="MONDO:equivalentTo"}
xref: UMLS:C4518340 {source="MEDGEN:1371993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015733
name: low anorectal malformation
def: "Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation." [Orphanet:171215]
xref: ICD10CM:Q42.2 {source="Orphanet:171215/specific", source="Orphanet:171215/btnt", source="Orphanet:171215"}
xref: ICD10CM:Q42.3 {source="Orphanet:171215/specific", source="Orphanet:171215/btnt", source="Orphanet:171215"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:473082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98975 {source="MONDO:equivalentTo"}
xref: Orphanet:171215 {source="MONDO:equivalentObsolete"}
xref: SCTID:253772005 {source="MONDO:equivalentTo"}
xref: UMLS:C0345218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473082"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015734
name: rectal duplication
def: "Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum." [Orphanet:171220]
subset: gard_rare {source="GARD:20122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171220"}
subset: ordo_morphological_anomaly {source="Orphanet:171220"}
subset: orphanet_rare {source="Orphanet:171220"}
subset: rare
xref: GARD:20122 {source="MONDO:GARD"}
xref: ICD10CM:Q43.4 {source="Orphanet:171220", source="Orphanet:171220/attributed", source="Orphanet:171220/ntbt"}
xref: MEDGEN:1393874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171220 {source="MONDO:equivalentTo"}
xref: SCTID:725910009 {source="MONDO:equivalentTo"}
xref: UMLS:C4511483 {source="MEDGEN:1393874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019938 {source="Orphanet:171220"} ! anorectal malformation

[Term]
id: MONDO:0015735
name: severe congenital nemaline myopathy
def: "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates." [Orphanet:171430]
subset: gard_rare {source="GARD:12821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171430"}
subset: orphanet_rare {source="Orphanet:171430"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "severe congenital (neonatal) NM" RELATED [GARD:0012821]
xref: GARD:12821 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:171430", source="Orphanet:171430/attributed", source="Orphanet:171430/ntbt"}
xref: MEDGEN:1805110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171430 {source="MONDO:equivalentTo"}
xref: UMLS:C5680451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805110"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016193 {source="Orphanet:171430"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171430"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0018958 {source="Orphanet:171430"} ! nemaline myopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy" xsd:anyURI {source="GARD:0012821"}

[Term]
id: MONDO:0015736
name: intermediate nemaline myopathy
def: "Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression." [Orphanet:171433]
subset: gard_rare {source="GARD:12823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171433"}
subset: orphanet_rare {source="Orphanet:171433"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Intermediate congenital nemaline myopathy" RELATED [GARD:0012823]
synonym: "Intermediate congenital NM" RELATED [GARD:0012823]
xref: GARD:12823 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:171433", source="Orphanet:171433/attributed", source="Orphanet:171433/ntbt"}
xref: MEDGEN:1803914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171433 {source="MONDO:equivalentTo"}
xref: UMLS:C5680452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803914"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0005336 {source="https://orcid.org/0000-0002-4142-7153"} ! myopathy
is_a: MONDO:0016193 {source="Orphanet:171433"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171433"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0017303 {source="Orphanet:171433"} ! qualitative or quantitative defects of tropomyosin
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015737
name: typical nemaline myopathy
def: "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement." [Orphanet:171436]
subset: gard_rare {source="GARD:12822", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171436"}
subset: orphanet_rare {source="Orphanet:171436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "typical congenital nemaline myopathy" RELATED [GARD:0012822]
xref: GARD:12822 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:171436/attributed", source="Orphanet:171436/ntbt", source="Orphanet:171436"}
xref: MEDGEN:1806265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171436 {source="MONDO:equivalentTo"}
xref: UMLS:C5680453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806265"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0016193 {source="Orphanet:171436"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171436"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0017303 {source="Orphanet:171436"} ! qualitative or quantitative defects of tropomyosin
is_a: MONDO:0018958 {source="Orphanet:171436"} ! nemaline myopathy

[Term]
id: MONDO:0015738
name: childhood-onset nemaline myopathy
def: "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." [Orphanet:171439]
subset: gard_rare {source="GARD:7171", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171439"}
subset: orphanet_rare {source="Orphanet:171439"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mild nemaline myopathy" EXACT [Orphanet:171439]
xref: GARD:7171 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:171439", source="Orphanet:171439/attributed", source="Orphanet:171439/ntbt"}
xref: MEDGEN:154265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171439 {source="MONDO:equivalentTo"}
xref: UMLS:C0546125 {source="MONDO:equivalentTo", source="MEDGEN:154265", source="MONDO:MEDGEN"}
is_a: MONDO:0016193 {source="Orphanet:171439"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171439"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0017303 {source="Orphanet:171439"} ! qualitative or quantitative defects of tropomyosin
is_a: MONDO:0018958 {source="Orphanet:171439"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_characteristic HP:0011463 ! Childhood onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy" xsd:anyURI {source="GARD:0007171"}

[Term]
id: MONDO:0015739
name: adult-onset nemaline myopathy
def: "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset." [Orphanet:171442]
subset: gard_rare {source="GARD:12824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171442"}
subset: orphanet_rare {source="Orphanet:171442"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:12824 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:171442", source="Orphanet:171442/attributed", source="Orphanet:171442/ntbt"}
xref: MEDGEN:154264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171442 {source="MONDO:equivalentTo"}
xref: UMLS:C0546123 {source="MEDGEN:154264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016193 {source="Orphanet:171442"} ! qualitative or quantitative defects of alpha-actin
is_a: MONDO:0016194 {source="Orphanet:171442"} ! qualitative or quantitative defects of nebulin
is_a: MONDO:0018958 {source="Orphanet:171442"} ! nemaline myopathy
intersection_of: MONDO:0018958 ! nemaline myopathy
intersection_of: has_characteristic HP:0003581 ! Adult onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy" xsd:anyURI {source="GARD:0012824"}

[Term]
id: MONDO:0015740
name: trisomy 18p
def: "Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy." [Orphanet:1715]
subset: gard_rare {source="GARD:5323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1715"}
subset: ordo_malformation_syndrome {source="Orphanet:1715"}
subset: orphanet_rare {source="Orphanet:1715"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "18p duplication" RELATED [GARD:0005323]
synonym: "18p trisomy" RELATED [GARD:0005323]
synonym: "chromosome 18p duplication" RELATED [GARD:0005323]
synonym: "Duplication 18p" EXACT [Orphanet:1715]
synonym: "Duplication of the short arm of chromosome 18" EXACT [Orphanet:1715]
synonym: "partial trisomy 18p" RELATED [GARD:0005323]
synonym: "trisomy of the short arm of chromosome 18" EXACT [Orphanet:1715]
synonym: "trisomy type 18p" EXACT [MONDORULE:4, Orphanet:1715]
xref: GARD:5323 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:1715/attributed", source="Orphanet:1715/ntbt", source="Orphanet:1715"}
xref: icd11.foundation:2079728626 {source="MONDO:equivalentTo", source="Orphanet:1715", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:419907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538307 {source="Orphanet:1715/e", source="MONDO:equivalentTo", source="Orphanet:1715"}
xref: Orphanet:1715 {source="MONDO:equivalentTo"}
xref: UMLS:C2931811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419907"}
is_a: MONDO:0016951 {source="Orphanet:1715"} ! partial trisomy/tetrasomy of the short arm of chromosome 18
relationship: disease_arises_from_structure CHR:9606-chr18p {source="https://orcid.org/0000-0002-4142-7153"} ! 18p (Human)

[Term]
id: MONDO:0015741
name: distal trisomy 18q
subset: gard_rare {source="GARD:18742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1716"}
subset: ordo_malformation_syndrome {source="Orphanet:1716"}
subset: orphanet_rare {source="Orphanet:1716"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal duplication 18q" EXACT [Orphanet:1716]
synonym: "distal trisomy type 18q" EXACT [MONDORULE:4, Orphanet:1716]
synonym: "telomeric duplication 18q" EXACT [Orphanet:1716]
synonym: "trisomy 18qter" EXACT [Orphanet:1716]
xref: GARD:18742 {source="MONDO:GARD"}
xref: MEDGEN:1674040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1716 {source="MONDO:equivalentTo"}
xref: UMLS:C5190516 {source="MEDGEN:1674040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016968 {source="Orphanet:1716"} ! partial trisomy of the long arm of chromosome 18
relationship: disease_arises_from_structure CHR:9606-chr18q {source="https://orcid.org/0000-0002-4142-7153"} ! 18q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0015742
name: periventricular leukomalacia
def: "Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles." [https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia]
subset: otar {source="MONDO:OTAR"}
synonym: "PVL" RELATED ABBREVIATION [GARD:0010285]
xref: DOID:13088 {source="EFO:1001101", source="MONDO:equivalentTo"}
xref: EFO:1001101 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:P91.2 {source="DOID:13088"}
xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:779.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13088"}
xref: MedDRA:10052594 {source="Orphanet:171676/e", source="EFO:1001101", source="Orphanet:171676"}
xref: MEDGEN:6072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007969 {source="Orphanet:171676/e", source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088", source="Orphanet:171676"}
xref: NCIT:C99013 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088"}
xref: Orphanet:171676 {source="MONDO:equivalentObsolete"}
xref: SCTID:230769007 {source="EFO:1001101", source="MONDO:equivalentTo", source="DOID:13088"}
xref: UMLS:C0023529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6072"}
is_a: MONDO:0005071 {source="Orphanet:171676"} ! nervous system disorder
is_a: MONDO:0006741 {source="DOID:13088", source="MESH:D007969", source="NCIT:C99013"} ! encephalomalacia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia" xsd:anyURI {source="GARD:0010285"}

[Term]
id: MONDO:0015743
name: idiopathic bilateral vestibulopathy
def: "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo." [Orphanet:171684]
subset: gard_rare {source="GARD:20124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171684"}
subset: orphanet_rare {source="Orphanet:171684"}
subset: rare
xref: GARD:20124 {source="MONDO:GARD"}
xref: ICD10CM:H81.8 {source="Orphanet:171684", source="Orphanet:171684/ntbt"}
xref: icd11.foundation:1394072237 {source="MONDO:equivalentTo", source="Orphanet:171684"}
xref: MEDGEN:1622940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171684 {source="MONDO:equivalentTo"}
xref: SCTID:737580004 {source="MONDO:equivalentTo"}
xref: UMLS:C4545229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1622940"}
is_a: MONDO:0024623 {source="Orphanet:171684"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0015744
name: distal trisomy 19q
def: "Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations." [Orphanet:1717]
subset: gard_rare {source="GARD:18743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1717"}
subset: ordo_malformation_syndrome {source="Orphanet:1717"}
subset: orphanet_rare {source="Orphanet:1717"}
subset: rare
synonym: "distal duplication 19q" EXACT [Orphanet:1717]
synonym: "distal trisomy type 19q" EXACT [MONDORULE:4, Orphanet:1717]
synonym: "telomeric duplication 19q" EXACT [Orphanet:1717]
synonym: "trisomy 19qter" EXACT [Orphanet:1717]
xref: GARD:18743 {source="MONDO:GARD"}
xref: MEDGEN:1646863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1717 {source="MONDO:equivalentTo"}
xref: SCTID:766052008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707664 {source="MEDGEN:1646863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016969 {source="Orphanet:1717"} ! partial duplication of the long arm of chromosome 19
relationship: disease_arises_from_structure CHR:9606-chr19q {source="https://orcid.org/0000-0002-4142-7153"} ! 19q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0015745
name: microcephaly-polymicrogyria-corpus callosum agenesis syndrome
def: "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality." [Orphanet:171703]
subset: gard_rare {source="GARD:20125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171703"}
subset: ordo_malformation_syndrome {source="Orphanet:171703"}
subset: orphanet_rare {source="Orphanet:171703"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20125 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:171703", source="Orphanet:171703/attributed", source="Orphanet:171703/ntbt"}
xref: MEDGEN:1653942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171703 {source="MONDO:equivalentTo"}
xref: UMLS:C4750772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1653942"}
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:171703", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015746
name: male infertility due to globozoospermia
def: "Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent." [Orphanet:171709]
subset: gard_rare {source="GARD:12502", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:171709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "globozoospermia" RELATED [DOID:0111156]
synonym: "male infertility due to globozoospermia" EXACT [DOID:0111156]
synonym: "Male infertility due to round-headed spermatozoa" EXACT [Orphanet:171709]
synonym: "male infertility due to round-headed spermatozoa" EXACT [DOID:0111156, GARD:0012502]
synonym: "round-headed sperm syndrome" EXACT [Orphanet:171709]
xref: DOID:0112312 {source="MONDO:equivalentTo"}
xref: GARD:12502 {source="MONDO:GARD"}
xref: ICD10CM:N46 {source="Orphanet:171709", source="Orphanet:171709/attributed", source="Orphanet:171709/ntbt"}
xref: MEDGEN:1826006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171709 {source="MONDO:equivalentTo", source="DOID:0111156"}
xref: UMLS:C5679591 {source="MEDGEN:1826006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005372 {source="DOID:0111156", source="MONDO:indirect"} ! male infertility
is_a: MONDO:0018394 {source="Orphanet:171709"} ! male infertility with teratozoospermia due to single gene mutation
intersection_of: MONDO:0005372 ! male infertility
intersection_of: disease_arises_from_feature HP:0012205 ! Globozoospermia

[Term]
id: MONDO:0015747
name: obsolete Amish infantile epilepsy syndrome
is_obsolete: true
replaced_by: MONDO:0012189

[Term]
id: MONDO:0015748
name: hereditary mucosal leukokeratosis
def: "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." [Orphanet:171723]
subset: gard_rare {source="GARD:8501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171723"}
subset: orphanet_rare {source="Orphanet:171723"}
subset: rare
synonym: "hereditary mucosal leukokeratosis" EXACT [Orphanet:171723]
synonym: "white sponge nevus" EXACT [DOID:0050448]
synonym: "White sponge nevus of Cannon" EXACT [Orphanet:171723]
synonym: "white sponge nevus of Cannon" EXACT [DOID:0050448]
xref: DOID:0050448 {source="MONDO:equivalentTo"}
xref: GARD:8501 {source="MONDO:GARD"}
xref: ICD10CM:Q38.6 {source="Orphanet:171723/index", source="Orphanet:171723/ntbt", source="Orphanet:171723"}
xref: ICD9:528.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:328433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053529 {source="MONDO:equivalentTo", source="DOID:0050448"}
xref: NCIT:C84760 {source="MONDO:equivalentTo", source="DOID:0050448"}
xref: OMIMPS:193900 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:171723 {source="MONDO:equivalentTo", source="DOID:0050448"}
xref: SCTID:389203001 {source="MONDO:equivalentTo", source="DOID:0050448"}
xref: SCTID:62953009 {source="DOID:0050448"}
xref: SCTID:85388002 {source="DOID:0050448"}
xref: UMLS:C1721005 {source="MEDGEN:328433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="Orphanet:171723"} ! melanocytic nevus
is_a: MONDO:0100118 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:193900"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015749
name: 6q16 deletion syndrome
def: "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." [Orphanet:171829]
subset: gard_rare {source="GARD:20126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171829"}
subset: orphanet_rare {source="Orphanet:171829"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(6)(q16)" EXACT [Orphanet:171829]
synonym: "monosomy 6q16" EXACT [Orphanet:171829]
synonym: "Prader-Willi-like syndrome due to deletion 6q16" EXACT [Orphanet:171829]
xref: GARD:20126 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:171829", source="Orphanet:171829/attributed", source="Orphanet:171829/ntbt"}
xref: MEDGEN:1759989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171829 {source="MONDO:equivalentTo"}
xref: UMLS:C5438727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1759989"}
is_a: MONDO:0016905 {source="Orphanet:171829"} ! partial deletion of the long arm of chromosome 6
is_a: MONDO:0018354 {source="Orphanet:171829"} ! Prader-Willi-like syndrome
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr6q16 ! 6q16 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0015750
name: obsolete amelogenesis imperfecta-gingival hyperplasia syndrome
comment: Obsoleted in Orphanet and OMIM.
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3537" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008771

[Term]
id: MONDO:0015751
name: craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
def: "Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism." [Orphanet:171839]
subset: gard_rare {source="GARD:20127", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171839"}
subset: ordo_malformation_syndrome {source="Orphanet:171839"}
subset: orphanet_rare {source="Orphanet:171839"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Berant syndrome" EXACT [Orphanet:171839]
synonym: "Capra-DeMarco syndrome" EXACT [Orphanet:171839]
synonym: "familial scaphocephaly-radioulnar synostosis syndrome" EXACT [Orphanet:171839]
xref: GARD:20127 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:171839/attributed", source="Orphanet:171839/ntbt", source="Orphanet:171839"}
xref: MEDGEN:923699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171839 {source="MONDO:equivalentTo"}
xref: SCTID:720815000 {source="MONDO:equivalentTo"}
xref: UMLS:C3267187 {source="MEDGEN:923699", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:171839"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="PMID:15875201", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015752
name: intellectual disability-cataracts-kyphosis syndrome
def: "This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence." [Orphanet:171860]
xref: Orphanet:171860 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:171860", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015753
name: cap myopathy
def: "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." [Orphanet:171881]
subset: gard_rare {source="GARD:11915", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171881"}
subset: orphanet_rare {source="Orphanet:171881"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cap disease" EXACT [Orphanet:171881]
synonym: "congenital myopathy with caps" RELATED [GARD:0011915]
xref: GARD:11915 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:171881", source="Orphanet:171881/attributed", source="Orphanet:171881/ntbt"}
xref: MEDGEN:777197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579969 {source="MONDO:equivalentTo"}
xref: Orphanet:171881 {source="MONDO:equivalentTo"}
xref: SCTID:703532002 {source="MONDO:equivalentTo"}
xref: UMLS:C3710589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777197"}
is_a: MONDO:0019952 {source="Orphanet:171881"} ! congenital myopathy
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! alpha-actinopathy
is_a: MONDO:0100108 {source="https://clinicalgenome.org/docs/clingen-cmp-ep-acgs-collaboration/"} ! TPM3-related myopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy" xsd:anyURI {source="GARD:0011915"}

[Term]
id: MONDO:0015754
name: obsolete cylindrical spirals myopathy
is_obsolete: true
replaced_by: MONDO:0008058

[Term]
id: MONDO:0015755
name: myopathy with hexagonally cross-linked tubular arrays
def: "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus." [Orphanet:171889]
subset: gard_rare {source="GARD:20129", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171889"}
subset: orphanet_rare {source="Orphanet:171889"}
subset: rare
xref: GARD:20129 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:171889", source="Orphanet:171889/attributed", source="Orphanet:171889/ntbt"}
xref: MEDGEN:1636081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171889 {source="MONDO:equivalentTo"}
xref: SCTID:764994007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636081"}
is_a: MONDO:0019952 {source="Orphanet:171889"} ! congenital myopathy

[Term]
id: MONDO:0015756
name: myeloid hemopathy
subset: disease_grouping
subset: gard_rare {source="GARD:20130", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:171895"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20130 {source="MONDO:GARD"}
xref: MEDGEN:1842523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171895 {source="MONDO:equivalentTo"}
xref: UMLS:C5680514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842523"}
is_a: MONDO:0002334 {source="Orphanet:171895", source="https://orcid.org/0009-0001-6494-4831"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6533" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI

[Term]
id: MONDO:0015757
name: lymphoid hemopathy
subset: disease_grouping
subset: gard_rare {source="GARD:20131", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:171898"}
subset: rare
xref: GARD:20131 {source="MONDO:GARD"}
xref: MEDGEN:1842533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171898 {source="MONDO:equivalentTo"}
xref: UMLS:C5680515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842533"}
is_a: MONDO:0002334 {source="https://orcid.org/0000-0001-5208-3432"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI

[Term]
id: MONDO:0015758
name: primary cutaneous T-cell lymphoma
subset: disease_grouping
subset: gard_rare {source="GARD:6226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:171901"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:6226 {source="MONDO:GARD"}
xref: MedDRA:10011677 {source="Orphanet:171901", source="Orphanet:171901/e"}
xref: MEDGEN:36336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016410 {source="Orphanet:171901", source="Orphanet:171901/e", source="MONDO:directSiblingOf"}
xref: Orphanet:171901 {source="MONDO:equivalentTo"}
xref: UMLS:C0079773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:36336"}
is_a: MONDO:0015760 {source="Orphanet:171901"} ! T-cell non-Hodgkin lymphoma
is_a: MONDO:0018898 {source="Orphanet:171901"} ! primary cutaneous lymphoma

[Term]
id: MONDO:0015759
name: B-cell non-Hodgkin lymphoma
def: "The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003" [NCIT:C3457]
subset: disease_grouping
subset: gard_rare {source="GARD:20132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:171915"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B-cell lymphoma" EXACT [NCIT:C3457]
synonym: "B-cell NHL" EXACT [Orphanet:171915]
synonym: "B-cell non Hodgkin's lymphoma" EXACT [NCIT:C3457]
synonym: "B-cell non-Hodgkin lymphoma" EXACT [NCIT:C3457]
synonym: "B-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3457]
synonym: "lymphomas non-Hodgkin's B-cell" EXACT [NCIT:C3457]
synonym: "non-Hodgkin's B-cell lymphoma" EXACT [NCIT:C3457]
synonym: "non-Hodgkin's lymphoma B-cell" EXACT [NCIT:C3457]
xref: EFO:1001938 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20132 {source="MONDO:GARD"}
xref: NANDO:2200020 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3457 {source="MONDO:equivalentTo"}
xref: Orphanet:171915 {source="MONDO:equivalentTo"}
is_a: MONDO:0004095 {source="MONDO:Redundant", source="NCIT:C3457"} ! B-cell neoplasm
is_a: MONDO:0018908 {source="MONDO:Redundant", source="NCIT:C3457", source="Orphanet:171915"} ! non-Hodgkin lymphoma
intersection_of: MONDO:0004095 {source="NCIT:C3457"} ! B-cell neoplasm
intersection_of: MONDO:0018908 {source="NCIT:C3457"} ! non-Hodgkin lymphoma

[Term]
id: MONDO:0015760
name: T-cell non-Hodgkin lymphoma
def: "A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003" [NCIT:C3466]
subset: disease_grouping
subset: gard_rare {source="GARD:20133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:171918"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-Hodgkin's T-cell lymphoma" EXACT [NCIT:C3466]
synonym: "T cell lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell and NK-cell non-Hodgkin lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell and NK-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell NHL" EXACT [Orphanet:171918]
synonym: "T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3466]
synonym: "T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3466]
xref: DOID:0081312 {source="MONDO:equivalentTo"}
xref: GARD:20133 {source="MONDO:GARD"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10042971 {source="Orphanet:171918", source="Orphanet:171918/e"}
xref: MEDGEN:86957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016399 {source="MONDO:equivalentTo"}
xref: NCIT:C3466 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:171918 {source="MONDO:equivalentTo"}
xref: SCTID:109978004 {source="MONDO:equivalentTo"}
xref: UMLS:C0079772 {source="MONDO:equivalentTo", source="MEDGEN:86957", source="MONDO:MEDGEN"}
is_a: MONDO:0018908 {source="MESH:D016399", source="NCIT:C3466", source="Orphanet:171918"} ! non-Hodgkin lymphoma
relationship: disease_arises_from_structure CL:0000084 ! T cell

[Term]
id: MONDO:0015761
name: trisomy 10p
def: "Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10." [Orphanet:171929]
subset: gard_rare {source="GARD:5299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171929"}
subset: ordo_malformation_syndrome {source="Orphanet:171929"}
subset: orphanet_rare {source="Orphanet:171929"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "10p duplication" RELATED [GARD:0005299]
synonym: "10p trisomy" RELATED [GARD:0005299]
synonym: "chromosome 10p duplication" RELATED [GARD:0005299]
synonym: "Duplication 10p" RELATED [GARD:0005299]
synonym: "partial trisomy 10p" RELATED [GARD:0005299]
synonym: "trisomy type 10p" EXACT [MONDORULE:4, Orphanet:171929]
xref: GARD:5299 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:171929", source="Orphanet:171929/attributed", source="Orphanet:171929/ntbt"}
xref: MEDGEN:904688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538290 {source="MONDO:equivalentTo"}
xref: Orphanet:171929 {source="MONDO:equivalentTo"}
xref: SCTID:717157006 {source="MONDO:equivalentTo"}
xref: UMLS:C4082793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904688"}
is_a: MONDO:0016947 {source="Orphanet:171929"} ! partial duplication of the short arm of chromosome 10

[Term]
id: MONDO:0015762
name: progressive familial intrahepatic cholestasis
def: "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." [Orphanet:172]
subset: gard_rare {source="GARD:15255", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:172"}
subset: orphanet_rare {source="Orphanet:172"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cholestasis, progressive familial intrahepatic" EXACT [OMIMPS:211600]
synonym: "PFIC" EXACT ABBREVIATION [Orphanet:172]
xref: DOID:0070221 {source="MONDO:equivalentTo"}
xref: GARD:15255 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:172", source="Orphanet:172/attributed", source="Orphanet:172/ntbt"}
xref: icd11.foundation:1457142642 {source="MONDO:equivalentTo", source="Orphanet:172"}
xref: MEDGEN:75668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201042 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200933 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84453 {source="MONDO:equivalentTo"}
xref: OMIMPS:211600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:172 {source="MONDO:equivalentTo"}
xref: UMLS:C0268312 {source="MEDGEN:75668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84453"} ! syndromic disease
is_a: MONDO:0017290 {source="MONDO:Redundant", source="Orphanet:172"} ! familial intrahepatic cholestasis
is_a: MONDO:0017755 {source="Orphanet:172"} ! inborn disorder of bilirubin metabolism
is_a: MONDO:0019072 {source="MONDO:0015762/inferred", source="MONDO:Redundant"} ! intrahepatic cholestasis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:211600"} ! inherited

[Term]
id: MONDO:0015763
name: mosaic trisomy 2
def: "Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported." [Orphanet:1723]
subset: gard_rare {source="GARD:5331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1723"}
subset: ordo_malformation_syndrome {source="Orphanet:1723"}
subset: orphanet_rare {source="Orphanet:1723"}
subset: rare
synonym: "Mosaic trisomy chromosome 2" EXACT [Orphanet:1723]
synonym: "Mosaic trisomy type 2" EXACT [MONDORULE:1, Orphanet:1723]
synonym: "trisomy 2 mosaicism" EXACT [Orphanet:1723]
xref: GARD:5331 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1723", source="Orphanet:1723/attributed", source="Orphanet:1723/ntbt"}
xref: MEDGEN:1631294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1723 {source="MONDO:equivalentTo"}
xref: SCTID:764623009 {source="MONDO:equivalentTo"}
xref: UMLS:C4707010 {source="MEDGEN:1631294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr2 ! chromosome 2 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0015764
name: mosaic trisomy 20
def: "Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported." [Orphanet:1724]
subset: gard_rare {source="GARD:18744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1724"}
subset: ordo_malformation_syndrome {source="Orphanet:1724"}
subset: orphanet_rare {source="Orphanet:1724"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mosaic trisomy chromosome 20" EXACT [Orphanet:1724]
synonym: "Mosaic trisomy type 20" EXACT [MONDORULE:2, Orphanet:1724]
xref: GARD:18744 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1724/attributed", source="Orphanet:1724/ntbt", source="Orphanet:1724"}
xref: Orphanet:1724 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr20 ! chromosome 20 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0015765
name: obsolete congenital myopathy with cores
subset: ordo_group_of_disorders {source="Orphanet:172976"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20134 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.2 {source="Orphanet:172976/attributed", source="Orphanet:172976/ntbt", source="Orphanet:172976"}
xref: Orphanet:172976 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015766
name: cholera
def: "Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated." [Orphanet:173]
subset: gard_rare {source="GARD:6043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:928"}
subset: ordo_disorder {source="Orphanet:173"}
subset: orphanet_rare {source="Orphanet:173"}
subset: rare
synonym: "cholera - Vibrio cholerae" EXACT [DOID:1498]
synonym: "cholera due to Vibrio cholerae" EXACT [DOID:1498, ICD9CM:001.0]
synonym: "Vibrio cholerae" EXACT [DOID:1498]
synonym: "Vibrio cholerae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Vibrio cholerae disease or disorder" EXACT []
synonym: "Vibrio cholerae infection" RELATED [GARD:0006043]
synonym: "Vibrio cholerae infectious disease" EXACT []
xref: DOID:1498 {source="MONDO:equivalentTo"}
xref: GARD:6043 {source="MONDO:GARD"}
xref: ICD10CM:A00 {source="DOID:1498", source="MONDO:equivalentTo"}
xref: ICD10CM:A00.0 {source="DOID:1498", source="Orphanet:173", source="Orphanet:173/btnt"}
xref: ICD10CM:A00.1 {source="Orphanet:173", source="Orphanet:173/btnt"}
xref: ICD10CM:A00.9 {source="DOID:1498", source="Orphanet:173", source="Orphanet:173/btnt"}
xref: icd11.foundation:257068234 {source="MONDO:equivalentTo", source="Orphanet:173"}
xref: ICD9:001 {source="DOID:1498"}
xref: ICD9:001.0 {source="DOID:1498", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:001.9 {source="DOID:1498", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10008631 {source="Orphanet:173", source="Orphanet:173/e"}
xref: MEDGEN:40263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002771 {source="DOID:1498", source="MONDO:equivalentTo", source="Orphanet:173", source="Orphanet:173/e"}
xref: NCIT:C157812 {source="MONDO:equivalentTo"}
xref: NORD:928 {source="MONDO:NORD"}
xref: Orphanet:173 {source="MONDO:equivalentTo"}
xref: SCTID:154269008 {source="DOID:1498"}
xref: SCTID:186087007 {source="DOID:1498"}
xref: SCTID:186088002 {source="DOID:1498"}
xref: SCTID:186089005 {source="DOID:1498"}
xref: SCTID:187267007 {source="DOID:1498"}
xref: SCTID:61972007 {source="DOID:1498"}
xref: SCTID:63650001 {source="DOID:1498", source="MONDO:equivalentTo"}
xref: UMLS:C0008354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40263"}
is_a: MONDO:0000314 {source="DOID:1498"} ! primary bacterial infectious disease
is_a: MONDO:0000916 {source="ICD10CM:A00", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal infectious disease
is_a: MONDO:0005113 {source="Orphanet:173"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:666 ! Vibrio cholerae
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_infectious_agent NCBITaxon:666 {source="MONDO:Wikidata"} ! Vibrio cholerae
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6043/cholera" xsd:anyURI {source="GARD:0006043"}

[Term]
id: MONDO:0015767
name: trisomy 4p
def: "Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males." [Orphanet:1738]
subset: gard_rare {source="GARD:6091", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1738"}
subset: ordo_malformation_syndrome {source="Orphanet:1738"}
subset: orphanet_rare {source="Orphanet:1738"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "4p duplication" RELATED [GARD:0006091]
synonym: "4p trisomy" RELATED [GARD:0006091]
synonym: "chromosome 4p duplication" RELATED [GARD:0006091]
synonym: "Duplication 4p" EXACT [Orphanet:1738]
synonym: "Duplication of the short arm of chromosome 4" EXACT [Orphanet:1738]
synonym: "partial trisomy 4p" RELATED [GARD:0006091]
synonym: "trisomy of the short arm of chromosome 4" EXACT [Orphanet:1738]
synonym: "trisomy type 4p" EXACT [MONDORULE:4, Orphanet:1738]
xref: GARD:6091 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:1738/attributed", source="Orphanet:1738/ntbt", source="Orphanet:1738"}
xref: MEDGEN:419836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537643 {source="Orphanet:1738/e", source="MONDO:equivalentTo", source="Orphanet:1738"}
xref: Orphanet:1738 {source="MONDO:equivalentTo"}
xref: UMLS:C2931571 {source="MEDGEN:419836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016941 {source="Orphanet:1738"} ! partial duplication of the short arm of chromosome 4

[Term]
id: MONDO:0015768
name: trisomy 5p
def: "Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." [Orphanet:1742]
subset: gard_rare {source="GARD:6093", source="MONDO:GARD"}
subset: nord_rare {source="NORD:957", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1742"}
subset: ordo_malformation_syndrome {source="Orphanet:1742"}
subset: orphanet_rare {source="Orphanet:1742"}
subset: rare
synonym: "5p duplication" RELATED [GARD:0006093]
synonym: "5p trisomy" RELATED [GARD:0006093]
synonym: "Chromosome 5, Trisomy 5p" EXACT [NORD:957]
synonym: "chromosome 5p duplication" RELATED [GARD:0006093]
synonym: "Duplication 5p" EXACT [Orphanet:1742]
synonym: "Duplication of the short arm of chromosome 5" EXACT [Orphanet:1742]
synonym: "partial trisomy 5p" RELATED [GARD:0006093]
synonym: "trisomy of the short arm of chromosome 5" EXACT [Orphanet:1742]
synonym: "trisomy type 5p" EXACT [MONDORULE:4, Orphanet:1742]
xref: GARD:6093 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:1742", source="Orphanet:1742/attributed", source="Orphanet:1742/ntbt"}
xref: MEDGEN:1672500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:957 {source="MONDO:NORD"}
xref: Orphanet:1742 {source="MONDO:equivalentTo"}
xref: UMLS:C0812464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672500"}
is_a: MONDO:0016942 {source="Orphanet:1742"} ! partial trisomy/tetrasomy of the short arm of chromosome 5
is_a: MONDO:0019716 ! overgrowth syndrome
relationship: disease_arises_from_structure CHR:9606-chr5p {source="https://orcid.org/0000-0002-4142-7153"} ! 5p (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:1742", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract

[Term]
id: MONDO:0015769
name: distal trisomy 6p
def: "Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay." [Orphanet:1745]
subset: gard_rare {source="GARD:18745", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1745"}
subset: ordo_malformation_syndrome {source="Orphanet:1745"}
subset: orphanet_rare {source="Orphanet:1745"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal duplication 6p" EXACT [Orphanet:1745]
synonym: "distal trisomy type 6p" EXACT [MONDORULE:4, Orphanet:1745]
synonym: "telomeric duplication 6p" EXACT [Orphanet:1745]
synonym: "trisomy 6pter" EXACT [Orphanet:1745]
xref: GARD:18745 {source="MONDO:GARD"}
xref: MEDGEN:928220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1745 {source="MONDO:equivalentTo"}
xref: SCTID:722430008 {source="MONDO:equivalentTo"}
xref: UMLS:C4302551 {source="MONDO:equivalentTo", source="MEDGEN:928220", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016943 {source="Orphanet:1745"} ! partial duplication of the short arm of chromosome 6
relationship: disease_arises_from_structure CHR:9606-chr6p {source="https://orcid.org/0000-0002-4142-7153"} ! 6p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0015770
name: congenital hypogonadotropic hypogonadism
def: "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [Orphanet:174590]
subset: disease_grouping
subset: gard_rare {source="GARD:20135", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:174590"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20135 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:174590", source="MONDO:relatedTo", source="Orphanet:174590/attributed", source="Orphanet:174590/ntbt"}
xref: MEDGEN:859097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200383 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C120162 {source="MONDO:equivalentTo"}
xref: Orphanet:174590 {source="MONDO:equivalentTo"}
xref: SCTID:722944006 {source="MONDO:equivalentTo"}
xref: UMLS:C3899503 {source="MEDGEN:859097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="NCIT:C120162"} ! hypogonadotropic hypogonadism
is_a: MONDO:0019824 {source="Orphanet:174590"} ! non-acquired pituitary hormone deficiency

[Term]
id: MONDO:0015771
name: mosaic trisomy 7
def: "Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported." [Orphanet:1747]
subset: gard_rare {source="GARD:5354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1747"}
subset: ordo_malformation_syndrome {source="Orphanet:1747"}
subset: orphanet_rare {source="Orphanet:1747"}
subset: rare
synonym: "Mosaic trisomy chromosome 7" RELATED [GARD:0005354]
synonym: "Mosaic trisomy type 7" EXACT [MONDORULE:1, Orphanet:1747]
synonym: "trisomy 7 mosaicism" RELATED [GARD:0005354]
xref: GARD:5354 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:1747", source="Orphanet:1747/attributed", source="Orphanet:1747/ntbt"}
xref: MEDGEN:419125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537822 {source="Orphanet:1747/e", source="MONDO:equivalentTo", source="Orphanet:1747"}
xref: Orphanet:1747 {source="MONDO:equivalentTo"}
xref: SCTID:764630003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419125"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr7 ! chromosome 7 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7" xsd:anyURI {source="GARD:0005354"}

[Term]
id: MONDO:0015772
name: trisomy 8q
def: "Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size." [Orphanet:1752]
subset: gard_rare {source="GARD:5362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1752"}
subset: ordo_malformation_syndrome {source="Orphanet:1752"}
subset: orphanet_rare {source="Orphanet:1752"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "8q duplication" RELATED [GARD:0005362]
synonym: "8q trisomy" RELATED [GARD:0005362]
synonym: "chromosome 8q duplication" RELATED [GARD:0005362]
synonym: "Duplication 8q" EXACT [Orphanet:1752]
synonym: "partial trisomy 8q" RELATED [GARD:0005362]
synonym: "trisomy type 8q" EXACT [MONDORULE:4, Orphanet:1752]
xref: GARD:5362 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:1752/attributed", source="Orphanet:1752/ntbt", source="Orphanet:1752"}
xref: icd11.foundation:573390171 {source="Orphanet:1752", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:162775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538020 {source="Orphanet:1752", source="MONDO:equivalentTo", source="Orphanet:1752/e"}
xref: NCIT:C36428 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: Orphanet:1752 {source="MONDO:equivalentTo"}
xref: UMLS:C0795829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162775"}
is_a: MONDO:0016959 {source="Orphanet:1752"} ! partial duplication of the long arm of chromosome 8

[Term]
id: MONDO:0015773
name: fibular dimelia-diplopodia syndrome
def: "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly." [Orphanet:1757]
subset: gard_rare {source="GARD:18746", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1757"}
subset: ordo_malformation_syndrome {source="Orphanet:1757"}
subset: orphanet_rare {source="Orphanet:1757"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leg duplication-mirror foot syndrome" EXACT [Orphanet:1757]
xref: GARD:18746 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:1757/attributed", source="Orphanet:1757/ntbt", source="Orphanet:1757"}
xref: MEDGEN:929427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1757 {source="MONDO:equivalentTo"}
xref: SCTID:720953006 {source="MONDO:equivalentTo"}
xref: UMLS:C4303758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929427"}
is_a: MONDO:0019054 {source="Orphanet:1757"} ! congenital limb malformation

[Term]
id: MONDO:0015774
name: thoraco-abdominal enteric duplication
def: "Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported." [Orphanet:1759]
subset: gard_rare {source="GARD:5181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1759"}
subset: ordo_malformation_syndrome {source="Orphanet:1759"}
subset: orphanet_rare {source="Orphanet:1759"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thoraco abdominal enteric duplication" RELATED [GARD:0005181]
xref: GARD:5181 {source="MONDO:GARD"}
xref: ICD10CM:Q43.4 {source="Orphanet:1759/attributed", source="Orphanet:1759/ntbt", source="Orphanet:1759"}
xref: MEDGEN:1372227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1759 {source="MONDO:equivalentTo"}
xref: SCTID:733628001 {source="MONDO:equivalentTo"}
xref: UMLS:C4518084 {source="MEDGEN:1372227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0004335 {source="https://orcid.org/0000-0002-4142-7153"} ! digestive system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication" xsd:anyURI {source="GARD:0005181"}

[Term]
id: MONDO:0015775
name: non-rhizomelic chondrodysplasia punctata
def: "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission." [Orphanet:176]
subset: disease_grouping
subset: gard_rare {source="GARD:18679", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:176"}
subset: rare
xref: GARD:18679 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:176/attributed", source="Orphanet:176/ntbt", source="Orphanet:176"}
xref: MEDGEN:1842643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:176 {source="MONDO:equivalentTo"}
xref: UMLS:C5681009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842643"}
is_a: MONDO:0019701 {source="Orphanet:176"} ! chondrodysplasia punctata

[Term]
id: MONDO:0015776
name: rhizomelic chondrodysplasia punctata
def: "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth." [Orphanet:177]
subset: gard_rare {source="GARD:13160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:177"}
subset: orphanet_rare {source="Orphanet:177"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia punctata, rhizomelic form" EXACT [DOID:2580]
synonym: "RCDP" EXACT ABBREVIATION [Orphanet:177]
synonym: "rhizomelic chondrodysplasia punctata" EXACT CLINGEN_LABEL []
synonym: "rhizomelic chondrodysplasia punctata syndrome" EXACT [NCIT:C85047]
synonym: "rhizomelic dwarfism" EXACT [NCIT:C85047]
xref: DOID:2580 {source="MONDO:equivalentTo"}
xref: GARD:13160 {source="MONDO:GARD"}
xref: ICD10CM:E71.540 {source="MONDO:equivalentTo", source="DOID:2580"}
xref: ICD10CM:Q77.3 {source="Orphanet:177/attributed", source="Orphanet:177/ntbt", source="Orphanet:177"}
xref: MEDGEN:79471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018902 {source="Orphanet:177/e", source="MONDO:equivalentTo", source="Orphanet:177", source="DOID:2580"}
xref: NCIT:C85047 {source="MONDO:equivalentTo", source="DOID:2580"}
xref: OMIMPS:215100 {source="MONDO:equivalentTo", source="DOID:2580"}
xref: Orphanet:177 {source="MONDO:equivalentTo", source="DOID:2580"}
xref: SCTID:56692003 {source="MONDO:equivalentTo", source="DOID:2580"}
xref: UMLS:C0282529 {source="MEDGEN:79471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0017986 {source="Orphanet:177"} ! disorder of plasmalogens biosynthesis
is_a: MONDO:0019701 {source="DOID:2580", source="MESH:D018902", source="NCIT:C85047", source="Orphanet:177"} ! chondrodysplasia punctata
relationship: disease_has_feature HP:0000518 ! Cataract
relationship: disease_has_feature HP:0001250 ! Seizure
relationship: disease_has_feature HP:0008905 ! Rhizomelia
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:215100"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata" xsd:anyURI {source="GARD:0013160"}

[Term]
id: MONDO:0015777
name: obsolete adult hypothyroidism
def: "OBSOLETE. A hypothyroidism that occurs in an adult." [MONDO:patterns/adult]
subset: ordo_group_of_disorders {source="Orphanet:177101"}
synonym: "rare adult hypothyroidism" EXACT DEPRECATED [Orphanet:177101]
xref: GARD:20136 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:177101 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015778
name: obsolete syndromic hypothyroidism
def: "OBSOLETE. A hypothyroidism that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:177107"}
subset: otar {source="MONDO:OTAR"}
synonym: "syndrome associated with hypothyroidism" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic hypothyroidism" EXACT [MONDO:patterns/syndromic]
xref: GARD:20137 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:177107 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015779
name: 45,X/46,XY mixed gonadal dysgenesis
def: "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." [Orphanet:1772]
subset: gard_rare {source="GARD:18747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1772"}
subset: ordo_malformation_syndrome {source="Orphanet:1772"}
subset: orphanet_rare {source="Orphanet:1772"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "45,X/46,XY disorder of Sex development" EXACT [NCIT:C120199]
synonym: "45,X/46,XY gonadal dysgenesis" EXACT [NCIT:C120199]
synonym: "45,X/46,XY MGD" EXACT [Orphanet:1772]
synonym: "45,X0/46,XY MGD" EXACT [Orphanet:1772]
synonym: "45,X0/46,XY mixed gonadal dysgenesis" EXACT [Orphanet:1772]
synonym: "Mixed gonadal dysgenesis" EXACT [NCIT:C120199]
synonym: "XY/X0" EXACT []
xref: DOID:0080656 {source="MONDO:equivalentTo"}
xref: GARD:18747 {source="MONDO:GARD"}
xref: ICD10CM:Q98.7 {source="Orphanet:1772", source="Orphanet:1772/attributed", source="Orphanet:1772/ntbt"}
xref: NANDO:2200388 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C120199 {source="MONDO:equivalentTo"}
xref: Orphanet:1772 {source="MONDO:equivalentTo"}
is_a: MONDO:0001967 {source="NCIT:C120199"} ! gonadal dysgenesis
is_a: MONDO:0017975 {source="Orphanet:1772"} ! sex chromosome disorder of sex development
relationship: disease_arises_from_structure CHR:9606-chrY {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y (Human)
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
relationship: has_characteristic SO:0000056 {source="https://orcid.org/0000-0002-4142-7153"} ! hypoploid

[Term]
id: MONDO:0015780
name: dyskeratosis congenita
def: "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." [Orphanet:1775]
comment: Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1071"}
subset: ordo_disorder {source="Orphanet:1775"}
subset: orphanet_rare {source="Orphanet:1775"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DC" EXACT ABBREVIATION [Orphanet:1775]
synonym: "DKC" EXACT ABBREVIATION [GARD:0010905, Orphanet:1775]
synonym: "dyskeratosis congenita" EXACT CLINGEN_LABEL []
synonym: "Hoyeraal-Hreidarsson syndrome" RELATED [GARD:0010905]
synonym: "Zinsser Cole Engman syndrome" RELATED [GARD:0002007]
synonym: "Zinsser-Engman-Cole syndrome" EXACT [GARD:0010905, Orphanet:1775]
xref: DOID:2729 {source="MONDO:equivalentTo"}
xref: GARD:10905 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1775", source="Orphanet:1775/index", source="Orphanet:1775/ntbt"}
xref: MedDRA:10062759 {source="Orphanet:1775", source="Orphanet:1775/e"}
xref: MEDGEN:78580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019871 {source="MONDO:equivalentTo", source="Orphanet:1775", source="Orphanet:1775/e", source="DOID:2729"}
xref: NANDO:1200304 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200342 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200715 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C111802 {source="MONDO:equivalentTo", source="DOID:2729"}
xref: NORD:1071 {source="MONDO:NORD"}
xref: OMIMPS:127550 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1775 {source="GARD:0010905", source="MONDO:equivalentTo", source="GARD:0002007", source="DOID:2729"}
xref: SCTID:74911008 {source="MONDO:equivalentTo", source="DOID:2729"}
xref: UMLS:C0265965 {source="MEDGEN:78580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015356 {source="Orphanet:1775"} ! hereditary neoplastic syndrome
is_a: MONDO:0019287 {source="Orphanet:1775"} ! ectodermal dysplasia syndrome
relationship: disease_has_feature HP:0000953 {source="Orphanet:1775"} ! Hyperpigmentation of the skin
relationship: disease_has_feature HP:0001903 {source="Orphanet:1775"} ! Anemia
relationship: disease_has_feature HP:0002721 {source="Orphanet:1775"} ! Immunodeficiency
relationship: disease_has_feature HP:0010566 {source="Orphanet:1775"} ! Hamartoma
relationship: excluded_subClassOf MONDO:0001713 {source="Orphanet:1775", source="https://orcid.org/0000-0001-5208-3432"} ! inherited aplastic anemia
relationship: excluded_subClassOf MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C111802/inferred", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0016382 {source="Orphanet:1775", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary poikiloderma
relationship: excluded_subClassOf MONDO:0018035 {source="Orphanet:1775", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with combined immunodeficiency
relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:1775", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0020063 {source="Orphanet:1775", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformation syndrome with hamartosis
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1775", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020195 {source="Orphanet:1775", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete excretory apparatus of the lacrimal system anomaly
relationship: excluded_subClassOf MONDO:0020204 {source="Orphanet:1775", source="https://orcid.org/0000-0001-5208-3432"} ! conjunctival tumor
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:127550"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked" xsd:anyURI {source="GARD:0002007"}

[Term]
id: MONDO:0015781
name: facial dysmorphism-shawl scrotum-joint laxity syndrome
def: "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit." [Orphanet:1778]
subset: gard_rare {source="GARD:4778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1778"}
subset: ordo_malformation_syndrome {source="Orphanet:1778"}
subset: orphanet_rare {source="Orphanet:1778"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial dysmorphism shawl scrotum joint laxity" RELATED [GARD:0004778]
synonym: "hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies" RELATED [GARD:0004778]
synonym: "Seaver Cassidy syndrome" RELATED [GARD:0004778]
synonym: "Seaver-Cassidy syndrome" EXACT [Orphanet:1778]
xref: GARD:4778 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1778", source="Orphanet:1778/attributed", source="Orphanet:1778/ntbt"}
xref: MEDGEN:419099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537529 {source="MONDO:equivalentTo"}
xref: Orphanet:1778 {source="MONDO:equivalentTo"}
xref: SCTID:716337006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419099"}
is_a: MONDO:0015159 {source="Orphanet:1778"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1778", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0015782
name: dysmorphism-cleft palate-loose skin syndrome
def: "Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss." [Orphanet:1779]
subset: gard_rare {source="GARD:2009", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1779"}
subset: ordo_malformation_syndrome {source="Orphanet:1779"}
subset: orphanet_rare {source="Orphanet:1779"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:2009 {source="MONDO:GARD"}
xref: MEDGEN:1642311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1779 {source="MONDO:equivalentTo"}
xref: UMLS:C4706366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642311"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0015783
name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
subset: gard_rare {source="GARD:20138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:177901"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:177901"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Prader-Willi syndrome (Type 1)" EXACT [DECIPHER:14]
xref: DECIPHER:14 {source="MONDO:equivalentTo"}
xref: GARD:20138 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:177901", source="Orphanet:177901/attributed", source="Orphanet:177901/ntbt"}
xref: MEDGEN:1826083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:177901 {source="MONDO:equivalentTo"}
xref: UMLS:C5680507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826083"}
is_a: MONDO:0020301 {source="Orphanet:177901"} ! Prader-Willi syndrome due to paternal 15q11q13 deletion

[Term]
id: MONDO:0015784
name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
subset: gard_rare {source="GARD:20139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:177904"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:177904"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Prader-Willi Syndrome (Type 2)" EXACT [DECIPHER:53]
xref: DECIPHER:53 {source="MONDO:equivalentTo"}
xref: GARD:20139 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:177904/attributed", source="Orphanet:177904/ntbt", source="Orphanet:177904"}
xref: MEDGEN:1826084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:177904 {source="MONDO:equivalentTo"}
xref: UMLS:C5680508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826084"}
is_a: MONDO:0020301 {source="Orphanet:177904"} ! Prader-Willi syndrome due to paternal 15q11q13 deletion

[Term]
id: MONDO:0015785
name: Prader-Willi syndrome due to translocation
subset: gard_rare {source="GARD:17074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:177907"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:177907"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17074 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:177907", source="Orphanet:177907/attributed", source="Orphanet:177907/ntbt"}
xref: MEDGEN:1826085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:177907 {source="MONDO:equivalentTo"}
xref: UMLS:C5680509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826085"}
is_a: MONDO:0008300 {source="Orphanet:177907"} ! Prader-Willi syndrome

[Term]
id: MONDO:0015786
name: Prader-Willi syndrome due to imprinting mutation
subset: gard_rare {source="GARD:17075", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:177910"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:177910"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17075 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:177910", source="Orphanet:177910/attributed", source="Orphanet:177910/ntbt"}
xref: MEDGEN:1826086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:177910 {source="MONDO:equivalentTo"}
xref: UMLS:C5680510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826086"}
is_a: MONDO:0008300 {source="Orphanet:177910"} ! Prader-Willi syndrome

[Term]
id: MONDO:0015787
name: symptomatic form of hemophilia A in female carriers
def: "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII." [Orphanet:177926]
subset: gard_rare {source="GARD:17076", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:177926"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17076 {source="MONDO:GARD"}
xref: ICD10CM:D66 {source="Orphanet:177926/attributed", source="Orphanet:177926/ntbt", source="Orphanet:177926"}
xref: MEDGEN:1843218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:177926 {source="MONDO:equivalentTo"}
xref: UMLS:C5680504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843218"}
is_a: MONDO:0010602 {source="Orphanet:177926"} ! hemophilia A

[Term]
id: MONDO:0015788
name: symptomatic form of hemophilia B in female carriers
def: "A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX." [Orphanet:177929]
subset: gard_rare {source="GARD:17077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:177929"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17077 {source="MONDO:GARD"}
xref: ICD10CM:D67 {source="Orphanet:177929", source="Orphanet:177929/attributed", source="Orphanet:177929/ntbt"}
xref: MEDGEN:1843014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:177929 {source="MONDO:equivalentTo"}
xref: UMLS:C5680505 {source="MONDO:equivalentTo", source="MEDGEN:1843014", source="MONDO:MEDGEN"}
is_a: MONDO:0010604 {source="Orphanet:177929"} ! hemophilia B

[Term]
id: MONDO:0015789
name: obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: non-acquired combined pituitary hormone deficiency'
subset: ordo_group_of_disorders {source="Orphanet:178025"}
xref: GARD:20140 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E23.0 {source="Orphanet:178025", source="MONDO:relatedTo", source="Orphanet:178025/attributed", source="Orphanet:178025/ntbt"}
xref: Orphanet:178025 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0018762

[Term]
id: MONDO:0015790
name: central diabetes insipidus
def: "Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI)." [Orphanet:178029]
subset: gard_rare {source="GARD:6015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178029"}
subset: orphanet_rare {source="Orphanet:178029"}
subset: rare
synonym: "CDI" EXACT ABBREVIATION [Orphanet:178029]
synonym: "diabetes insipidus cranial type" RELATED [GARD:0006015]
synonym: "diabetes insipidus neurogenic" RELATED [GARD:0006015]
synonym: "diabetes insipidus neurohypophyseal" RELATED [GARD:0006015]
synonym: "neurogenic diabetes insipidus" EXACT [Orphanet:178029]
xref: DOID:0081055 {source="MONDO:equivalentTo"}
xref: GARD:6015 {source="MONDO:GARD"}
xref: HP:0000863 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:178029", source="Orphanet:178029/ntbt"}
xref: icd11.foundation:1009553897 {source="MONDO:equivalentTo", source="Orphanet:178029"}
xref: MedDRA:10068587 {source="Orphanet:178029", source="Orphanet:178029/e"}
xref: MEDGEN:146919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020790 {source="Orphanet:178029", source="Orphanet:178029/e"}
xref: NANDO:1200375 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200324 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:178029 {source="MONDO:equivalentTo"}
xref: UMLS:C0687720 {source="MEDGEN:146919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015127 {source="Orphanet:178029"} ! pituitary deficiency
is_a: MONDO:0100070 {xref="https://orcid.org/0000-0002-2825-0621"} ! neuroendocrine disorder

[Term]
id: MONDO:0015791
name: peripheral precocious puberty
def: "Precocious puberty caused by sex hormones." [https://orcid.org/0000-0002-6601-2165, https://www.mayoclinic.org/diseases-conditions/precocious-puberty/symptoms-causes/syc-20351811, Wikipedia:Precocious_puberty#Peripheral]
subset: disease_grouping
subset: gard_rare {source="GARD:20141", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:178040"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GIPP" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/precocious-puberty/]
synonym: "gonadotropin independent precocious puberty" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/]
synonym: "gonadotropin-independent precocious puberty" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/]
synonym: "precocious pseudopuberty" EXACT [Wikipedia:Precocious_puberty#Peripheral]
xref: GARD:20141 {source="MONDO:GARD"}
xref: ICD10CM:E30.1 {source="Orphanet:178040/specific", source="Orphanet:178040/e", source="Orphanet:178040"}
xref: icd11.foundation:1495024153 {source="MONDO:equivalentTo", source="Orphanet:178040"}
xref: MEDGEN:1842596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200378 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:178040 {source="MONDO:equivalentTo"}
xref: SCTID:736606009 {source="MONDO:equivalentTo"}
xref: UMLS:C5680513 {source="MONDO:equivalentTo", source="MEDGEN:1842596", source="MONDO:MEDGEN"}
is_a: MONDO:0000088 {source="Orphanet:178040"} ! precocious puberty
disjoint_from: MONDO:0019165 ! central precocious puberty
relationship: excluded_subClassOf MONDO:0015514 {source="Orphanet:178040", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary endocrine growth disease

[Term]
id: MONDO:0015792
name: transient congenital hypothyroidism
def: "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone." [NCIT:C113171]
subset: disease_grouping
subset: gard_rare {source="GARD:20142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:178045"}
subset: rare
synonym: "hypothyroxinemia of prematurity" EXACT [NCIT:C113171]
synonym: "THOP" EXACT ABBREVIATION [NCIT:C113171]
synonym: "transient hypothyroxinemia of prematurity" EXACT [NCIT:C113171]
xref: GARD:20142 {source="MONDO:GARD"}
xref: icd11.foundation:592246939 {source="Orphanet:178045", source="MONDO:equivalentTo"}
xref: MEDGEN:820541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C113171 {source="MONDO:equivalentTo"}
xref: Orphanet:178045 {source="MONDO:equivalentTo"}
xref: SCTID:119181000119104 {source="MONDO:equivalentTo"}
xref: UMLS:C3827793 {source="MEDGEN:820541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018612 {source="MONDO:Redundant", source="Orphanet:178045"} ! congenital hypothyroidism
intersection_of: MONDO:0018612 ! congenital hypothyroidism
intersection_of: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0015793
name: moderate multiminicore disease with hand involvement
subset: gard_rare {source="GARD:17078", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:178145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17078 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:178145/attributed", source="Orphanet:178145/ntbt", source="Orphanet:178145"}
xref: MEDGEN:396213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178145 {source="MONDO:equivalentTo"}
xref: UMLS:C1861753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396213"}
is_a: MONDO:0018948 {source="Orphanet:178145"} ! multiminicore myopathy

[Term]
id: MONDO:0015794
name: antenatal multiminicore disease with arthrogryposis multiplex congenita
subset: gard_rare {source="GARD:20143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:178148"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "multicore myopathy, antenatal onset, with arthrogryposis" RELATED [GARD:0009129]
synonym: "multiminicore myopathy, antenatal onset, with arthrogryposis" RELATED [GARD:0009129]
xref: GARD:20143 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:178148/attributed", source="Orphanet:178148/ntbt", source="Orphanet:178148"}
xref: MEDGEN:334470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178148 {source="MONDO:equivalentTo"}
xref: UMLS:C1843691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334470"}
is_a: MONDO:0018948 {source="Orphanet:178148", source="https://orcid.org/0000-0001-5208-3432"} ! multiminicore myopathy

[Term]
id: MONDO:0015795
name: undifferentiated embryonal sarcoma of the liver
def: "Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache." [Orphanet:178315]
subset: gard_rare {source="GARD:20145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178315"}
subset: orphanet_rare {source="Orphanet:178315"}
subset: rare
synonym: "embryonal sarcoma of the liver" EXACT [Orphanet:178315]
synonym: "UES" EXACT ABBREVIATION [Orphanet:178315]
synonym: "undifferentiated sarcoma of the liver" EXACT [Orphanet:178315]
xref: GARD:20145 {source="MONDO:GARD"}
xref: MEDGEN:902204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: ONCOTREE:UESL {source="MONDO:equivalentTo"}
xref: Orphanet:178315 {source="MONDO:equivalentTo"}
xref: SCTID:716648006 {source="MONDO:equivalentTo"}
xref: UMLS:C2205345 {source="MEDGEN:902204", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024477 {source="Orphanet:178315"} ! liver and intrahepatic bile duct neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017632"} ! rare

[Term]
id: MONDO:0015796
name: acute lung injury
def: "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." [MESH:D055371]
subset: gard_rare {source="GARD:20146", source="MONDO:GARD"}
subset: ordo_clinical_situation {source="Orphanet:178320"}
subset: ordo_disorder {source="Orphanet:178320"}
subset: orphanet_rare {source="Orphanet:178320"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0004610 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20146 {source="MONDO:GARD"}
xref: MedDRA:10069351 {source="Orphanet:178320", source="Orphanet:178320/e"}
xref: MESH:D055371 {source="Orphanet:178320", source="EFO:0004610", source="MONDO:equivalentTo", source="Orphanet:178320/e"}
xref: NCIT:C155766 {source="MONDO:equivalentTo"}
xref: Orphanet:178320 {source="MONDO:equivalentTo"}
xref: SCTID:315345002 {source="EFO:0004610", source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="Orphanet:178320"} ! respiratory system disorder
is_a: MONDO:0005275 {source="EFO:0004610", source="MESH:D055371/inferred"} ! lung disorder
is_a: MONDO:0021178 {source="https://orcid.org/0000-0001-5493-2602"} ! injury
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0015797
name: UV-sensitive syndrome
def: "UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population." [http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome]
subset: gard_rare {source="GARD:10947", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178338"}
subset: orphanet_rare {source="Orphanet:178338"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "UV sensitive syndrome" RELATED [GARD:0010947]
synonym: "UVSS" RELATED ABBREVIATION [GARD:0010947]
xref: DOID:0060240 {source="MONDO:equivalentTo"}
xref: GARD:10947 {source="MONDO:GARD"}
xref: ICD9:702.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:322222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563466 {source="MONDO:equivalentTo", source="DOID:0060240"}
xref: OMIMPS:600630 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:178338 {source="MONDO:equivalentTo", source="DOID:0060240"}
xref: SCTID:698253007 {source="MONDO:equivalentTo"}
xref: UMLS:C1833561 {source="MEDGEN:322222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder
is_a: MONDO:0006025 {source="DOID:0060240", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015951 {source="Orphanet:178338"} ! hereditary photodermatosis
relationship: disease_has_basis_in_disruption_of GO:0070914 ! UV-damage excision repair
relationship: has_characteristic HP:0000007 {source="Orphanet:178338"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600630"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome" xsd:anyURI {source="GARD:0010947"}

[Term]
id: MONDO:0015798
name: inflammatory myofibroblastic tumor
def: "A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells." [NCIT:P378]
subset: gard_rare {source="GARD:7146", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178342"}
subset: orphanet_rare {source="Orphanet:178342"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMT" EXACT ABBREVIATION [NCIT:C6481, ONCOTREE:IMT]
synonym: "inflammatory fibrosarcoma" EXACT [GARD:0007146, NCIT:C6481]
synonym: "inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6481]
synonym: "inflammatory myofibroblastic tumor" EXACT [NCIT:C6481]
synonym: "inflammatory pseudotumor" EXACT [GARD:0007146, NCIT:C6481]
xref: DOID:0050905 {source="MONDO:equivalentTo"}
xref: GARD:7146 {source="MONDO:GARD"}
xref: ICDO:8825/1 {source="NCIT:C6481"}
xref: MedDRA:10067917 {source="Orphanet:178342", source="Orphanet:178342/e"}
xref: MEDGEN:137723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006104 {source="MONDO:equivalentTo"}
xref: NCIT:C6481 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:IMT {source="MONDO:equivalentTo"}
xref: Orphanet:178342 {source="MONDO:equivalentTo"}
xref: UMLS:C0334121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137723"}
is_a: MONDO:0006424 {source="Orphanet:178342"} ! soft tissue neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor" xsd:anyURI {source="GARD:0007146"}

[Term]
id: MONDO:0015799
name: Smith-McCort dysplasia
def: "Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC." [Orphanet:178355]
subset: gard_rare {source="GARD:10620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178355"}
subset: orphanet_rare {source="Orphanet:178355"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Smith McCort dysplasia" RELATED [GARD:0010620]
synonym: "Smith-McCort dwarfism" RELATED [GARD:0010620]
xref: DOID:0060247 {source="MONDO:equivalentTo"}
xref: GARD:10620 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:178355", source="Orphanet:178355/attributed", source="Orphanet:178355/ntbt"}
xref: MEDGEN:375887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564589 {source="MONDO:equivalentTo", source="DOID:0060247"}
xref: OMIMPS:607326 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:178355 {source="MONDO:equivalentTo", source="DOID:0060247"}
xref: SCTID:715862006 {source="MONDO:equivalentTo"}
xref: UMLS:C1846431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375887"}
is_a: MONDO:0005516 {source="DOID:0060247", source="DOID:0060247/inferred", source="MESH:C564589"} ! osteochondrodysplasia
is_a: MONDO:0016761 {source="Orphanet:178355"} ! spondyloepiphyseal dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607326"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia" xsd:anyURI {source="GARD:0010620"}

[Term]
id: MONDO:0015800
name: osteosclerosis-developmental delay-craniosynostosis syndrome
def: "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis." [Orphanet:178377]
subset: gard_rare {source="GARD:20147", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178377"}
subset: ordo_malformation_syndrome {source="Orphanet:178377"}
subset: orphanet_rare {source="Orphanet:178377"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20147 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:178377", source="Orphanet:178377/attributed", source="Orphanet:178377/ntbt"}
xref: MEDGEN:928487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178377 {source="MONDO:equivalentTo"}
xref: SCTID:722117000 {source="MONDO:equivalentTo"}
xref: UMLS:C4302818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928487"}
is_a: MONDO:0015338 {source="Orphanet:178377"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0015801
name: hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
subset: gard_rare {source="GARD:20148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178396"}
subset: orphanet_rare {source="Orphanet:178396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20148 {source="MONDO:GARD"}
xref: MEDGEN:1675899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178396 {source="MONDO:equivalentTo"}
xref: UMLS:C5190706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675899"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 {source="https://orcid.org/0000-0001-5208-3432"} ! hemorrhagic disease

[Term]
id: MONDO:0015802
name: autosomal dominant non-syndromic intellectual disability
def: "Autosomal dominant form of non-syndromic intellectual disability." [MONDO:patterns/autosomal_dominant]
comment: Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries
subset: gard_rare {source="GARD:12107", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:178469"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant mental retardation" BROAD DEPRECATED [DOID:0060307]
synonym: "autosomal dominant non-syndromic intellectual disability" EXACT [DOID:0060307]
synonym: "autosomal dominant non-syndromic mental retardation" EXACT DEPRECATED [DOID:0060307]
synonym: "non-syndromic intellectual disability, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0060307 {source="MONDO:equivalentTo"}
xref: GARD:12107 {source="MONDO:GARD"}
xref: MEDGEN:1826082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178469 {source="MONDO:equivalentTo", source="DOID:0060307"}
xref: UMLS:C5680502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826082"}
is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:178469"} ! non-syndromic intellectual disability
intersection_of: MONDO:0000509 ! non-syndromic intellectual disability
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015108"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability" xsd:anyURI {source="GARD:0012107"}

[Term]
id: MONDO:0015803
name: wound botulism
def: "Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum." []
subset: gard_rare {source="GARD:20149", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:178475"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:178475"}
subset: rare
synonym: "cutaneous infectious botulism" EXACT [Orphanet:178475]
synonym: "cutaneous toxin-mediated botulism" EXACT [Orphanet:178475]
synonym: "inoculation botulism" EXACT [Orphanet:178475]
synonym: "skin infectious botulism" EXACT [Orphanet:178475]
synonym: "skin toxin-mediated botulism" EXACT [Orphanet:178475]
xref: DOID:0050353 {source="MONDO:equivalentTo"}
xref: GARD:20149 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="Orphanet:178475/ntbt", source="Orphanet:178475"}
xref: ICD10CM:A48.52 {source="MONDO:equivalentTo"}
xref: ICD9:040.42 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:224933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128342 {source="MONDO:equivalentTo"}
xref: Orphanet:178475 {source="MONDO:equivalentTo"}
xref: SCTID:398530003 {source="MONDO:equivalentTo"}
xref: UMLS:C1306794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224933"}
is_a: MONDO:0005498 {source="DOID:0050353", source="MONDO:Redundant", source="NCIT:C128342", source="Orphanet:178475/inferred"} ! botulism
is_a: MONDO:0016468 {source="Orphanet:178475"} ! toxin-mediated infectious botulism
relationship: disease_has_infectious_agent NCBITaxon:1491 {source="MONDO:Wikidata"} ! Clostridium botulinum
relationship: disease_has_infectious_agent NCBITaxon:36826 ! Clostridium botulinum A
relationship: disease_has_infectious_agent NCBITaxon:36827 ! Clostridium botulinum B
relationship: disease_has_infectious_agent NCBITaxon:36830 ! Clostridium botulinum E
relationship: disease_has_infectious_agent NCBITaxon:36831 ! Clostridium botulinum F

[Term]
id: MONDO:0015804
name: infant botulism
def: "A botulism that occurs between 28 days to one year of life.." [MONDO:patterns/infantile]
subset: gard_rare {source="GARD:20150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:178478"}
subset: rare
synonym: "botulism of infancy" EXACT [MONDO:patterns/infantile]
synonym: "infant intestinal botulism" EXACT [Orphanet:178478]
synonym: "infant intestinal toxaemia botulism" EXACT OMO:0003005 []
synonym: "infant intestinal toxemia botulism" EXACT [Orphanet:178478]
synonym: "infant intestinal toxin-mediated botulism" EXACT [Orphanet:178478]
synonym: "infantile botulism" EXACT [Orphanet:178478]
synonym: "infantile onset botulism" EXACT [MONDO:patterns/infantile]
xref: DOID:0050354 {source="MONDO:equivalentTo"}
xref: GARD:20150 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="Orphanet:178478/ntbt", source="Orphanet:178478"}
xref: ICD10CM:A48.51 {source="MONDO:equivalentTo"}
xref: MEDGEN:68649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128343 {source="MONDO:equivalentTo"}
xref: Orphanet:178478 {source="MONDO:equivalentTo"}
xref: SCTID:414488002 {source="MONDO:equivalentTo"}
xref: UMLS:C0238027 {source="MEDGEN:68649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005498 {source="DOID:0050354", source="MONDO:Redundant", source="NCIT:C128343", source="Orphanet:178478/inferred"} ! botulism
is_a: MONDO:0015805 {source="Orphanet:178478"} ! intestinal botulism
intersection_of: MONDO:0005498 ! botulism
intersection_of: has_characteristic HP:0003593 ! Infantile onset
relationship: disease_has_feature HP:0001254 ! Lethargy
relationship: disease_has_feature HP:0001324 ! Muscle weakness
relationship: disease_has_feature MONDO:0000728 ! ptosis
relationship: disease_has_infectious_agent NCBITaxon:1491 {source="MONDO:Wikidata"} ! Clostridium botulinum

[Term]
id: MONDO:0015805
name: intestinal botulism
def: "A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism)." [Orphanet:178481]
subset: gard_rare {source="GARD:20151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:178481"}
subset: rare
synonym: "intestinal colonisation botulism" EXACT OMO:0003005 []
synonym: "intestinal colonization botulism" EXACT [Orphanet:178481]
synonym: "intestinal toxaemia botulism" EXACT OMO:0003005 []
synonym: "intestinal toxemia botulism" EXACT [Orphanet:178481]
synonym: "intestinal toxin-mediated botulism" EXACT [Orphanet:178481]
xref: DOID:0050141 {source="MONDO:equivalentTo"}
xref: GARD:20151 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="Orphanet:178481/ntbt", source="Orphanet:178481"}
xref: MEDGEN:731170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178481 {source="MONDO:equivalentTo"}
xref: SCTID:409563004 {source="MONDO:equivalentTo"}
xref: UMLS:C1443901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:731170"}
is_a: MONDO:0016468 {source="Orphanet:178481"} ! toxin-mediated infectious botulism
relationship: disease_has_infectious_agent NCBITaxon:1491 {source="MONDO:Wikidata"} ! Clostridium botulinum

[Term]
id: MONDO:0015806
name: adult intestinal botulism
def: "A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia." [Orphanet:178487]
subset: gard_rare {source="GARD:20152", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:178487"}
subset: rare
synonym: "adult intestinal colonisation botulism" EXACT OMO:0003005 []
synonym: "adult intestinal colonization botulism" EXACT [Orphanet:178487]
synonym: "adult intestinal toxaemia botulism" EXACT OMO:0003005 []
synonym: "adult intestinal toxemia botulism" EXACT [Orphanet:178487]
synonym: "adult intestinal toxin-mediated botulism" EXACT [Orphanet:178487]
synonym: "infant-like botulism" EXACT [Orphanet:178487]
synonym: "intestinal botulism of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:20152 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="Orphanet:178487", source="Orphanet:178487/ntbt"}
xref: MEDGEN:927523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128344 {source="MONDO:equivalentTo"}
xref: Orphanet:178487 {source="MONDO:equivalentTo"}
xref: UMLS:C4289991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927523"}
is_a: MONDO:0005498 {source="MONDO:Redundant", source="NCIT:C128344", source="Orphanet:178487/inferred"} ! botulism
is_a: MONDO:0015805 {source="MONDO:Redundant", source="Orphanet:178487"} ! intestinal botulism
intersection_of: MONDO:0015805 ! intestinal botulism
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0015807
name: myopic macular degeneration
subset: gard_rare {source="GARD:20153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myopic maculopathy" EXACT [Orphanet:178493]
xref: EFO:0009201 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20153 {source="MONDO:GARD"}
xref: ICD10CM:H35.3 {source="MONDO:relatedTo", source="Orphanet:178493/ntbt", source="Orphanet:178493"}
xref: MEDGEN:676480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178493 {source="MONDO:equivalentTo"}
xref: SCTID:312898002 {source="MONDO:equivalentTo"}
xref: UMLS:C0730271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:676480"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005283 {source="https://orcid.org/0000-0002-4142-7153"} ! retinal disorder
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015808
name: folliculotropic mycosis fungoides
def: "Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area." [Orphanet:178512]
subset: gard_rare {source="GARD:20154", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178512"}
subset: orphanet_rare {source="Orphanet:178512"}
subset: rare
synonym: "alopecia mucinosa (t cell lymphoma)" RELATED []
synonym: "follicular mucinosis type mycosis fungoides" EXACT []
synonym: "follicular mycosis fungoides" EXACT [NCIT:C35685]
synonym: "folliculotropic mycosis fungoides" EXACT []
synonym: "mycosis fungoides-associated follicular mucinosis" EXACT [Orphanet:178512]
xref: GARD:20154 {source="MONDO:GARD"}
xref: ICD10CM:C84.0 {source="Orphanet:178512", source="Orphanet:178512/ntbt"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:302080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35685 {source="MONDO:equivalentTo"}
xref: Orphanet:178512 {source="MONDO:equivalentTo"}
xref: SCTID:404109006 {source="MONDO:equivalentTo"}
xref: UMLS:C1627767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:302080"}
is_a: MONDO:0015821 {source="MONDO:Redundant", source="Orphanet:178512"} ! mycosis fungoides and variants
is_a: MONDO:0021655 ! secondary catabolic mucinosis of skin
is_a: MONDO:0045071 {source="NCIT:C35685"} ! mycosis fungoides variant
relationship: excluded_subClassOf MONDO:0009691 {source="https://orcid.org/0000-0001-5208-3432"} ! mycosis fungoides

[Term]
id: MONDO:0015809
name: localized pagetoid reticulosis
def: "A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported." [NCIT:C35794]
subset: gard_rare {source="GARD:20155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178517"}
subset: orphanet_rare {source="Orphanet:178517"}
subset: rare
synonym: "localised reticulosis" EXACT OMO:0003005 []
synonym: "localized reticulosis" EXACT []
synonym: "pagetoid reticulosis" EXACT [NCIT:C35794]
synonym: "pagetoid reticulosis, Woringer-Kolopp type" EXACT [Orphanet:178517]
xref: GARD:20155 {source="MONDO:GARD"}
xref: ICD10CM:C84.0 {source="Orphanet:178517", source="Orphanet:178517/ntbt", source="MONDO:directSiblingOf"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:699349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056267 {source="Orphanet:178517/e", source="MONDO:equivalentTo", source="Orphanet:178517"}
xref: NCIT:C35794 {source="MONDO:equivalentTo"}
xref: Orphanet:178517 {source="MONDO:equivalentTo"}
xref: SCTID:404120006 {source="MONDO:equivalentTo"}
xref: UMLS:C1276140 {source="MEDGEN:699349", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015821 {source="Orphanet:178517"} ! mycosis fungoides and variants
is_a: MONDO:0045071 {source="NCIT:C35794"} ! mycosis fungoides variant

[Term]
id: MONDO:0015810
name: primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
subset: gard_rare {source="GARD:20156", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178522"}
subset: orphanet_rare {source="Orphanet:178522"}
subset: rare
xref: GARD:20156 {source="MONDO:GARD"}
xref: ICD10CM:C84.4 {source="Orphanet:178522/ntbt", source="MONDO:relatedTo", source="Orphanet:178522"}
xref: MEDGEN:1842165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178522 {source="MONDO:equivalentTo"}
xref: UMLS:C5680503 {source="MEDGEN:1842165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015816 {source="Orphanet:178522"} ! indolent primary cutaneous T-cell lymphoma

[Term]
id: MONDO:0015811
name: primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
def: "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared." [Orphanet:178528]
subset: gard_rare {source="GARD:20157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178528"}
subset: orphanet_rare {source="Orphanet:178528"}
subset: rare
synonym: "Berti lymphoma" EXACT [Orphanet:178528]
synonym: "primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma" EXACT [Orphanet:178528]
xref: GARD:20157 {source="MONDO:GARD"}
xref: ICD10CM:C84.4 {source="MONDO:relatedTo", source="Orphanet:178528", source="Orphanet:178528/ntbt"}
xref: MEDGEN:1388716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178528 {source="MONDO:equivalentTo"}
xref: SCTID:765136002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518232 {source="MEDGEN:1388716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0015758 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! primary cutaneous T-cell lymphoma
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0015812
name: primary cutaneous gamma/delta-positive T-cell lymphoma
def: "Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported." [Orphanet:178533]
subset: gard_rare {source="GARD:20158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178533"}
subset: orphanet_rare {source="Orphanet:178533"}
subset: rare
xref: GARD:20158 {source="MONDO:GARD"}
xref: ICD10CM:C84.4 {source="Orphanet:178533/ntbt", source="MONDO:relatedTo", source="Orphanet:178533"}
xref: Orphanet:178533 {source="MONDO:equivalentTo"}
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0015758 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! primary cutaneous T-cell lymphoma
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0015813
name: primary cutaneous marginal zone B-cell lymphoma
def: "Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder." [MESH:D018442]
subset: gard_rare {source="GARD:20159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178536"}
subset: orphanet_rare {source="Orphanet:178536"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C-MALT" EXACT [NCIT:C7230]
synonym: "cutaneous Immunocytoma" EXACT [NCIT:C7230]
synonym: "marginal zone B cell lymphoma of skin" EXACT [NCIT:C7230]
synonym: "marginal zone B cell lymphoma of the skin" EXACT [NCIT:C7230]
synonym: "PCMZL" EXACT ABBREVIATION [Orphanet:178536]
synonym: "Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230]
synonym: "Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230]
synonym: "Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230]
synonym: "salt lymphoma" EXACT [NCIT:C7230]
synonym: "skin-associated lymphoid tissue lymphoma" EXACT [NCIT:C7230]
xref: GARD:20159 {source="MONDO:GARD"}
xref: ICD10CM:C83.0 {source="Orphanet:178536", source="Orphanet:178536/ntbt"}
xref: MEDGEN:698594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018442 {source="Orphanet:178536", source="Orphanet:178536/e"}
xref: NCIT:C7230 {source="MONDO:equivalentTo"}
xref: Orphanet:178536 {source="MONDO:equivalentTo"}
xref: SCTID:404140004 {source="MONDO:equivalentTo"}
xref: UMLS:C1275321 {source="MEDGEN:698594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015819 {source="Orphanet:178536"} ! indolent primary cutaneous B-cell lymphoma

[Term]
id: MONDO:0015814
name: primary cutaneous follicle center lymphoma
def: "A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin." [NCIT:P378]
subset: gard_rare {source="GARD:13701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178540"}
subset: orphanet_rare {source="Orphanet:178540"}
subset: rare
synonym: "Crosti's disease" EXACT [NCIT:C7217]
synonym: "cutaneous follicle center lymphoma" EXACT [NCIT:C7217]
synonym: "cutaneous follicle centre lymphoma" EXACT OMO:0003005 []
synonym: "PCFCL" EXACT ABBREVIATION [ONCOTREE:PCFCL, Orphanet:178540]
synonym: "Reticulohistiocytoma of the dorsum" EXACT [NCIT:C7217]
xref: GARD:13701 {source="MONDO:GARD"}
xref: ICD10CM:C82.6 {source="Orphanet:178540", source="Orphanet:178540/e"}
xref: icd11.foundation:77501812 {source="Orphanet:178540", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9597/3 {source="NCIT:C7217"}
xref: MEDGEN:234180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7217 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PCFCL {source="MONDO:equivalentTo"}
xref: Orphanet:178540 {source="MONDO:equivalentTo"}
xref: SCTID:404143002 {source="MONDO:equivalentTo"}
xref: UMLS:C1333171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234180"}
is_a: MONDO:0015819 {source="Orphanet:178540"} ! indolent primary cutaneous B-cell lymphoma

[Term]
id: MONDO:0015815
name: obsolete primary cutaneous diffuse large B-cell lymphoma, leg type
is_obsolete: true
replaced_by: MONDO:0006383

[Term]
id: MONDO:0015816
name: indolent primary cutaneous T-cell lymphoma
subset: disease_grouping
subset: gard_rare {source="GARD:20161", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:178548"}
subset: rare
xref: GARD:20161 {source="MONDO:GARD"}
xref: MEDGEN:1843370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178548 {source="MONDO:equivalentTo"}
xref: UMLS:C5680498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843370"}
is_a: MONDO:0015758 {source="Orphanet:178548"} ! primary cutaneous T-cell lymphoma

[Term]
id: MONDO:0015817
name: obsolete aggressive primary cutaneous T-cell lymphoma
subset: ordo_group_of_disorders {source="Orphanet:178551"}
xref: GARD:20162 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:178551 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015818
name: obsolete aggressive primary cutaneous B-cell lymphoma
subset: ordo_group_of_disorders {source="Orphanet:178554"}
xref: GARD:20163 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:178554 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015819
name: indolent primary cutaneous B-cell lymphoma
subset: disease_grouping
subset: gard_rare {source="GARD:20164", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:178557"}
subset: rare
xref: GARD:20164 {source="MONDO:GARD"}
xref: MEDGEN:1843003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178557 {source="MONDO:equivalentTo"}
xref: UMLS:C5680499 {source="MONDO:equivalentTo", source="MEDGEN:1843003", source="MONDO:MEDGEN"}
is_a: MONDO:0015820 {source="Orphanet:178557", source="https://orcid.org/0000-0001-5208-3432"} ! primary cutaneous B-cell lymphoma
is_a: MONDO:0017594 {source="Orphanet:178557"} ! indolent B-cell non-Hodgkin lymphoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0015820
name: primary cutaneous B-cell lymphoma
subset: disease_grouping
subset: gard_rare {source="GARD:20165", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:178563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20165 {source="MONDO:GARD"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:697651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178563 {source="MONDO:equivalentTo"}
xref: SCTID:402881008 {source="MONDO:equivalentTo"}
xref: UMLS:C1274310 {source="MEDGEN:697651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018898 {source="Orphanet:178563"} ! primary cutaneous lymphoma

[Term]
id: MONDO:0015821
name: mycosis fungoides and variants
def: "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course." [Orphanet:178566]
subset: disease_grouping
subset: gard_rare {source="GARD:20166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:178566"}
subset: rare
xref: GARD:20166 {source="MONDO:GARD"}
xref: ICD10CM:C84.0 {source="Orphanet:178566/ntbt", source="Orphanet:178566"}
xref: icd11.foundation:2036068731 {source="Orphanet:178566", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:178566 {source="MONDO:equivalentTo"}
is_a: MONDO:0015816 {source="Orphanet:178566"} ! indolent primary cutaneous T-cell lymphoma

[Term]
id: MONDO:0015822
name: obsolete acquired neutropenia
def: "OBSOLETE. An instance of neutropenia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:178996"}
subset: otar {source="MONDO:OTAR"}
synonym: "acquired neutropenia" EXACT [MONDO:patterns/acquired]
synonym: "immunologic neutropenia" EXACT [Orphanet:178996]
xref: GARD:20167 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:348671706 {source="MONDO:obsoleteEquivalent", source="Orphanet:178996", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:178996 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015823
name: obsolete primary immunodeficiency due to a defect in adaptive immunity
subset: ordo_group_of_disorders {source="Orphanet:179006"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20168 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1169765917 {source="MONDO:obsoleteEquivalent", source="Orphanet:179006", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:179006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015824
name: oculomaxillofacial dysostosis
def: "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported." [Orphanet:1794]
subset: gard_rare {source="GARD:4046", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1794"}
subset: ordo_malformation_syndrome {source="Orphanet:1794"}
subset: orphanet_rare {source="Orphanet:1794"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "oblique facial clefts" RELATED [GARD:0004046]
synonym: "oculomaxillofacial dysplasia with oblique facial clefts" RELATED [GARD:0004046]
synonym: "Richieri Costa Gorlin syndrome" RELATED [GARD:0004046]
synonym: "Richieri-Costa-Gorlin syndrome" EXACT [Orphanet:1794]
xref: GARD:4046 {source="MONDO:GARD"}
xref: ICD10CM:Q75.1 {source="Orphanet:1794", source="Orphanet:1794/attributed", source="Orphanet:1794/ntbt"}
xref: MEDGEN:333072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537736 {source="Orphanet:1794", source="MONDO:equivalentTo", source="Orphanet:1794/e"}
xref: Orphanet:1794 {source="MONDO:equivalentTo", source="GARD:0004046"}
xref: SCTID:763830009 {source="MONDO:equivalentTo"}
xref: UMLS:C1838348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333072"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:7856656", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0023369 {source="PMID:7856656", source="https://orcid.org/0009-0001-6494-4831"} ! disorder of facial skeleton
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0015825
name: obsolete obesity due to congenital leptin resistance
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: genetic non-syndromic obesity'
subset: ordo_subtype_of_a_disorder {source="Orphanet:179490"}
xref: GARD:20169 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E66.8 {source="Orphanet:179490/attributed", source="Orphanet:179490/ntbt", source="Orphanet:179490"}
xref: Orphanet:179490 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0020075

[Term]
id: MONDO:0015826
name: autosomal dominant spondylocostal dysostosis
def: "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." [Orphanet:1797]
subset: gard_rare {source="GARD:12806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1797"}
subset: ordo_malformation_syndrome {source="Orphanet:1797"}
subset: orphanet_rare {source="Orphanet:1797"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spondylocostal dysplasia" EXACT [Orphanet:1797]
synonym: "spondylocostal dysostosis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:12806 {source="MONDO:GARD"}
xref: ICD10CM:Q76.4 {source="Orphanet:1797", source="Orphanet:1797/attributed", source="Orphanet:1797/ntbt"}
xref: MEDGEN:902919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1797 {source="MONDO:equivalentTo"}
xref: SCTID:716232002 {source="MONDO:equivalentTo"}
xref: UMLS:C4274761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902919"}
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
intersection_of: MONDO:0000359 ! spondylocostal dysostosis
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="Orphanet:1797"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0015827
name: distal renal tubular acidosis
def: "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." [Orphanet:18]
subset: gard_rare {source="GARD:4667", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1969", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:18"}
subset: orphanet_rare {source="Orphanet:18"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic RTA" EXACT [Orphanet:18]
synonym: "distal renal tubular acidosis" EXACT [MONDO:ambiguous]
synonym: "distal renal tubular acidosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "dRTA" EXACT [Orphanet:18]
synonym: "familial distal primary acidosis" EXACT [Orphanet:18]
synonym: "Primary Distal Renal Tubular Acidosis" EXACT [NORD:1969]
synonym: "renal tubular acidosis type 1" EXACT [Orphanet:18]
synonym: "renal tubular acidosis, distal" RELATED [GARD:0004667]
xref: GARD:4667 {source="MONDO:GARD"}
xref: HP:0008341 {source="MONDO:otherHierarchy"}
xref: ICD10CM:N25.8 {source="Orphanet:18", source="Orphanet:18/attributed", source="Orphanet:18/ntbt"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10045224 {source="Orphanet:18", source="Orphanet:18/e"}
xref: MEDGEN:853429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1969 {source="MONDO:NORD"}
xref: OMIMPS:179800 {source="MONDO:equivalentTo"}
xref: Orphanet:18 {source="MONDO:equivalentTo"}
xref: SCTID:236461000 {source="MONDO:equivalentTo"}
xref: UMLS:C1704380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:853429"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:179800"} ! inherited
property_value: IAO:0000589 "distal renal tubular acidosis (disease)" xsd:string

[Term]
id: MONDO:0015828
name: obsolete uterovaginal malformation
subset: ordo_group_of_disorders {source="Orphanet:180062"}
xref: GARD:20170 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180062 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015829
name: obsolete non-syndromic uterovaginal malformation
def: "OBSOLETE. A uterovaginal malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:180065"}
synonym: "isolated uterovaginal malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic uterovaginal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:20171 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180065 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015830
name: partial bilateral aplasia of the mullerian ducts
subset: disease_grouping
subset: gard_rare {source="GARD:20172", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:180068"}
subset: rare
synonym: "incomplete bilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180068]
synonym: "incomplete bilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180068]
synonym: "partial bilateral aplasia of the Müllerian ducts" RELATED [Orphanet:180068]
xref: GARD:20172 {source="MONDO:GARD"}
xref: ICD10CM:Q51.8 {source="Orphanet:180068", source="Orphanet:180068/attributed", source="Orphanet:180068/ntbt"}
xref: MEDGEN:1843187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180068 {source="MONDO:equivalentTo"}
xref: UMLS:C5679589 {source="MEDGEN:1843187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019128 {source="Orphanet:180068"} ! mullerian aplasia

[Term]
id: MONDO:0015831
name: unilateral aplasia of the mullerian ducts
subset: disease_grouping
subset: gard_rare {source="GARD:20173", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:180071"}
subset: rare
synonym: "unicornuate uterus" EXACT [Orphanet:180071]
synonym: "unilateral aplasia of the Müllerian ducts" RELATED [Orphanet:180071]
xref: GARD:20173 {source="MONDO:GARD"}
xref: ICD10CM:Q51.4 {source="Orphanet:180071", source="Orphanet:180071/e", source="Orphanet:180071/specific"}
xref: MEDGEN:78600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180071 {source="MONDO:equivalentTo"}
xref: UMLS:C0266389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78600"}
is_a: MONDO:0019128 {source="Orphanet:180071"} ! mullerian aplasia

[Term]
id: MONDO:0015832
name: true unicornuate uterus
def: "True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated." [Orphanet:180074]
subset: gard_rare {source="GARD:20174", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180074"}
subset: ordo_morphological_anomaly {source="Orphanet:180074"}
subset: orphanet_rare {source="Orphanet:180074"}
subset: rare
synonym: "complete unilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180074]
synonym: "complete unilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180074]
synonym: "complete unilateral Mullerian aplasia" EXACT [Orphanet:180074]
synonym: "complete unilateral Müllerian aplasia" EXACT [Orphanet:180074]
synonym: "unicornuate uterus without rudimentary horn" EXACT [Orphanet:180074]
xref: GARD:20174 {source="MONDO:GARD"}
xref: ICD10CM:Q51.4 {source="Orphanet:180074", source="Orphanet:180074/attributed", source="Orphanet:180074/ntbt"}
xref: Orphanet:180074 {source="MONDO:equivalentTo"}
is_a: MONDO:0015831 {source="Orphanet:180074"} ! unilateral aplasia of the mullerian ducts

[Term]
id: MONDO:0015833
name: pseudounicornuate uterus
def: "Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated." [Orphanet:180079]
subset: gard_rare {source="GARD:20175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180079"}
subset: ordo_morphological_anomaly {source="Orphanet:180079"}
subset: orphanet_rare {source="Orphanet:180079"}
subset: rare
synonym: "incomplete unilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180079]
synonym: "incomplete unilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180079]
synonym: "incomplete unilateral Mullerian aplasia" EXACT [Orphanet:180079]
synonym: "incomplete unilateral Müllerian aplasia" EXACT [Orphanet:180079]
synonym: "unicornuate uterus with rudimentary horn" EXACT [Orphanet:180079]
xref: GARD:20175 {source="MONDO:GARD"}
xref: ICD10CM:Q51.4 {source="Orphanet:180079", source="Orphanet:180079/attributed", source="Orphanet:180079/ntbt"}
xref: MEDGEN:1657403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180079 {source="MONDO:equivalentTo"}
xref: UMLS:C4749300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657403"}
is_a: MONDO:0015831 {source="Orphanet:180079"} ! unilateral aplasia of the mullerian ducts

[Term]
id: MONDO:0015834
name: didelphys uterus
subset: gard_rare {source="GARD:20176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180086"}
subset: ordo_morphological_anomaly {source="Orphanet:180086"}
subset: orphanet_rare {source="Orphanet:180086"}
subset: rare
synonym: "Bicervical bicornuate uterus" EXACT [Orphanet:180086]
xref: GARD:20176 {source="MONDO:GARD"}
xref: ICD10CM:Q51.1 {source="Orphanet:180086", source="Orphanet:180086/e"}
xref: ICD9:752.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10012770 {source="Orphanet:180086", source="Orphanet:180086/e"}
xref: MEDGEN:82740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180086 {source="MONDO:equivalentTo"}
xref: SCTID:15545001 {source="MONDO:equivalentTo"}
xref: UMLS:C0266393 {source="MEDGEN:82740", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015842 {source="Orphanet:180086"} ! bicornuate uterus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0015835
name: Bicervical bicornuate uterus and blind hemivagina
subset: gard_rare {source="GARD:20177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:180106"}
subset: rare
xref: GARD:20177 {source="MONDO:GARD"}
xref: ICD10CM:Q51.1 {source="Orphanet:180106", source="Orphanet:180106/ntbt"}
xref: MEDGEN:1842173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180106 {source="MONDO:equivalentTo"}
xref: UMLS:C5680489 {source="MEDGEN:1842173", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015834 {source="Orphanet:180106"} ! didelphys uterus

[Term]
id: MONDO:0015836
name: Bicervical bicornuate uterus with patent cervix and vagina
subset: gard_rare {source="GARD:20178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:180111"}
subset: rare
xref: GARD:20178 {source="MONDO:GARD"}
xref: ICD10CM:Q51.1 {source="Orphanet:180111/ntbt", source="Orphanet:180111"}
xref: MEDGEN:1842271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180111 {source="MONDO:equivalentTo"}
xref: UMLS:C5680491 {source="MEDGEN:1842271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015834 {source="Orphanet:180111"} ! didelphys uterus

[Term]
id: MONDO:0015837
name: obsolete Unicervical bicornuate uterus
subset: ordo_disorder {source="Orphanet:180114"}
xref: GARD:20179 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q51.3 {source="Orphanet:180114/ntbt", source="Orphanet:180114"}
xref: Orphanet:180114 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015838
name: cordiform uterus
subset: ordo_morphological_anomaly {source="Orphanet:180118"}
synonym: "uterus arcuatus" EXACT [Orphanet:180118]
synonym: "uterus cordiformis" EXACT [Orphanet:180118]
xref: ICD10CM:Q51.3 {source="Orphanet:180118", source="Orphanet:180118/ntbt"}
xref: MEDGEN:539891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180118 {source="MONDO:equivalentObsolete"}
xref: SCTID:14689000 {source="MONDO:equivalentTo"}
xref: UMLS:C0266397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539891"}
is_a: MONDO:0002654 {source="https://orcid.org/0000-0002-5002-8648"} ! uterine disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015839
name: septate uterus
subset: disease_grouping
subset: gard_rare {source="GARD:20180", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:180122"}
subset: rare
xref: GARD:20180 {source="MONDO:GARD"}
xref: ICD10CM:Q51.2 {source="Orphanet:180122/ntbt", source="Orphanet:180122"}
xref: icd11.foundation:1959106408 {source="MONDO:equivalentTo", source="Orphanet:180122"}
xref: MedDRA:10062606 {source="Orphanet:180122/e", source="Orphanet:180122"}
xref: MEDGEN:56272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180122 {source="MONDO:equivalentTo"}
xref: SCTID:22504001 {source="MONDO:equivalentTo"}
xref: UMLS:C0152240 {source="MEDGEN:56272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="https://orcid.org/0000-0002-5002-8648"} ! uterine disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015840
name: complete septate uterus
def: "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent." [Orphanet:180126]
subset: gard_rare {source="GARD:20181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180126"}
subset: ordo_morphological_anomaly {source="Orphanet:180126"}
subset: orphanet_rare {source="Orphanet:180126"}
subset: rare
synonym: "total septate uterus" EXACT [Orphanet:180126]
xref: GARD:20181 {source="MONDO:GARD"}
xref: ICD10CM:Q51.2 {source="Orphanet:180126/ntbt", source="Orphanet:180126"}
xref: MEDGEN:1672501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180126 {source="MONDO:equivalentTo"}
xref: UMLS:C2957116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672501"}
is_a: MONDO:0015839 {source="Orphanet:180126"} ! septate uterus

[Term]
id: MONDO:0015841
name: partial septate uterus
def: "Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated." [Orphanet:180129]
subset: gard_rare {source="GARD:20182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180129"}
subset: ordo_morphological_anomaly {source="Orphanet:180129"}
subset: orphanet_rare {source="Orphanet:180129"}
subset: rare
synonym: "subtotal septate uterus" EXACT [Orphanet:180129]
synonym: "uterus subseptus" EXACT [Orphanet:180129]
xref: GARD:20182 {source="MONDO:GARD"}
xref: ICD10CM:Q51.2 {source="Orphanet:180129", source="Orphanet:180129/ntbt"}
xref: MEDGEN:539894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180129 {source="MONDO:equivalentTo"}
xref: SCTID:5364006 {source="MONDO:equivalentTo"}
xref: UMLS:C0266401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539894"}
is_a: MONDO:0015839 {source="Orphanet:180129"} ! septate uterus

[Term]
id: MONDO:0015842
name: bicornuate uterus
subset: disease_grouping
subset: gard_rare {source="GARD:20183", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:180134"}
subset: rare
xref: GARD:20183 {source="MONDO:GARD"}
xref: ICD10CM:Q51.3 {source="Orphanet:180134/e", source="Orphanet:180134"}
xref: icd11.foundation:1965739367 {source="MONDO:equivalentTo", source="Orphanet:180134"}
xref: MedDRA:10004550 {source="Orphanet:180134/e", source="Orphanet:180134"}
xref: MEDGEN:78599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180134 {source="MONDO:equivalentTo"}
xref: SCTID:31401003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78599"}
is_a: MONDO:0002654 {source="https://orcid.org/0000-0002-5002-8648"} ! uterine disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015843
name: uterine hypoplasia
subset: gard_rare {source="GARD:20184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180139"}
subset: ordo_morphological_anomaly {source="Orphanet:180139"}
subset: orphanet_rare {source="Orphanet:180139"}
subset: rare
xref: GARD:20184 {source="MONDO:GARD"}
xref: ICD10CM:Q51.8 {source="Orphanet:180139", source="Orphanet:180139/ntbt"}
xref: icd11.foundation:1858530341 {source="Orphanet:180139", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10063146 {source="Orphanet:180139", source="Orphanet:180139/e"}
xref: MEDGEN:120575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180139 {source="MONDO:equivalentTo"}
xref: UMLS:C0266399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120575"}
is_a: MONDO:0002654 {source="https://orcid.org/0000-0002-5002-8648"} ! uterine disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015844
name: agenesis and aplasia of uterine body
subset: gard_rare {source="GARD:20185", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180142"}
subset: ordo_morphological_anomaly {source="Orphanet:180142"}
subset: orphanet_rare {source="Orphanet:180142"}
subset: rare
xref: GARD:20185 {source="MONDO:GARD"}
xref: ICD10CM:Q51.0 {source="Orphanet:180142", source="Orphanet:180142/e"}
xref: icd11.foundation:25664922 {source="MONDO:equivalentTo", source="Orphanet:180142", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1687110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180142 {source="MONDO:equivalentTo"}
xref: UMLS:C5230999 {source="MEDGEN:1687110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="https://orcid.org/0000-0002-5002-8648"} ! uterine disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015845
name: uterine cervical aplasia and agenesis
subset: gard_rare {source="GARD:20186", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180145"}
subset: ordo_morphological_anomaly {source="Orphanet:180145"}
subset: orphanet_rare {source="Orphanet:180145"}
subset: rare
xref: GARD:20186 {source="MONDO:GARD"}
xref: ICD10CM:Q51.5 {source="Orphanet:180145/e", source="Orphanet:180145"}
xref: icd11.foundation:1670353767 {source="MONDO:equivalentTo", source="Orphanet:180145", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1673872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180145 {source="MONDO:equivalentTo"}
xref: UMLS:C5190813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673872"}
is_a: MONDO:0002263 {source="https://orcid.org/0000-0002-5002-8648"} ! female reproductive system disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015846
name: obsolete syndromic uterovaginal malformation
def: "OBSOLETE. A uterovaginal malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:180148"}
synonym: "syndrome associated with uterovaginal malformation" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic uterovaginal malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:20187 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180148 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015847
name: obsolete rare vaginal malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180151"}
xref: GARD:20188 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180151 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015848
name: obsolete septate vagina
subset: ordo_disorder {source="Orphanet:180154"}
subset: ordo_morphological_anomaly {source="Orphanet:180154"}
xref: GARD:20189 {source="MONDO:obsoleteEquivalent"}
xref: HP:0001153 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q52.1 {source="Orphanet:180154", source="Orphanet:180154/ntbt"}
xref: icd11.foundation:1699475508 {source="MONDO:obsoleteEquivalent", source="Orphanet:180154", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:752.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:180154 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:47054003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI
is_obsolete: true
consider: HP:0001153

[Term]
id: MONDO:0015849
name: longitudinal vaginal septum
def: "A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities." [Orphanet:180157]
subset: gard_rare {source="GARD:20190", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:180157"}
subset: rare
xref: GARD:20190 {source="MONDO:GARD"}
xref: HP:0008740 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q52.1 {source="Orphanet:180157/ntbt", source="Orphanet:180157"}
xref: MEDGEN:331104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180157 {source="MONDO:equivalentTo"}
xref: UMLS:C1841680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331104"}
is_a: MONDO:0002263 {source="https://orcid.org/0000-0002-5002-8648"} ! female reproductive system disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature HP:0001153 {source="https://orcid.org/0000-0001-5208-3432"} ! Septate vagina
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015850
name: transverse vaginal septum
def: "A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea." [Orphanet:180160]
subset: gard_rare {source="GARD:20191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:180160"}
subset: rare
xref: GARD:20191 {source="MONDO:GARD"}
xref: HP:0000145 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q52.1 {source="Orphanet:180160/ntbt", source="Orphanet:180160"}
xref: ICD10CM:Q52.11 {source="MONDO:equivalentTo"}
xref: MEDGEN:341032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180160 {source="MONDO:equivalentTo"}
xref: UMLS:C1856006 {source="MEDGEN:341032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="https://orcid.org/0000-0002-5002-8648"} ! female reproductive system disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature HP:0001153 {source="https://orcid.org/0000-0001-5208-3432"} ! Septate vagina
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0015851
name: obsolete rare breast malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180163"}
xref: GARD:20192 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180163 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015852
name: obsolete excess breast volume or number
subset: ordo_group_of_disorders {source="Orphanet:180170"}
xref: GARD:20193 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180170 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015853
name: obsolete deficient breast volume or number
subset: ordo_group_of_disorders {source="Orphanet:180173"}
xref: GARD:20194 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180173 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015854
name: supernumerary breasts
subset: gard_rare {source="GARD:20195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180182"}
subset: ordo_morphological_anomaly {source="Orphanet:180182"}
subset: orphanet_rare {source="Orphanet:180182"}
subset: rare
synonym: "accessory breasts" EXACT [Orphanet:180182]
synonym: "polymastia" EXACT [Orphanet:180182]
xref: GARD:20195 {source="MONDO:GARD"}
xref: ICD10CM:Q83.1 {source="Orphanet:180182", source="Orphanet:180182/e"}
xref: icd11.foundation:1458532658 {source="Orphanet:180182", source="MONDO:equivalentTo"}
xref: MedDRA:10049786 {source="Orphanet:180182", source="Orphanet:180182/e"}
xref: MEDGEN:78583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180182 {source="MONDO:equivalentTo"}
xref: UMLS:C0266010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78583"}
is_a: MONDO:0002657 {source="https://orcid.org/0000-0001-5208-3432"} ! breast disorder

[Term]
id: MONDO:0015855
name: isolated congenital breast hypoplasia/aplasia
subset: gard_rare {source="GARD:9489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180188"}
subset: ordo_morphological_anomaly {source="Orphanet:180188"}
subset: orphanet_rare {source="Orphanet:180188"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breasts and/or nipples, aplasia or hypoplasia of" EXACT [OMIMPS:113700]
synonym: "isolated congenital amastia" EXACT [Orphanet:180188]
xref: GARD:9489 {source="MONDO:GARD"}
xref: ICD10CM:Q83.0 {source="Orphanet:180188/e", source="Orphanet:180188/specific", source="Orphanet:180188"}
xref: MEDGEN:98489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:113700 {source="MONDO:equivalentTo"}
xref: Orphanet:180188 {source="MONDO:equivalentTo"}
xref: UMLS:C0432357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98489"}
is_a: MONDO:0002657 {source="https://orcid.org/0000-0001-5208-3432"} ! breast disorder
relationship: excluded_subClassOf MONDO:0002263 {source="Orphanet:180188", source="https://orcid.org/0000-0001-5208-3432"} ! female reproductive system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015980"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:113700"} ! inherited

[Term]
id: MONDO:0015856
name: syndromic breast hypoplasia/aplasia
subset: disease_grouping
subset: gard_rare {source="GARD:20196", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:180193"}
subset: rare
xref: GARD:20196 {source="MONDO:GARD"}
xref: MEDGEN:1842220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:180193 {source="MONDO:equivalentTo"}
xref: UMLS:C5680482 {source="MEDGEN:1842220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002657 {source="https://orcid.org/0000-0001-5208-3432"} ! breast disorder

[Term]
id: MONDO:0015857
name: obsolete rare non-malformative gynecologic or obstetric disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180199"}
xref: GARD:20197 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180199 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015858
name: obsolete rare non-malformative breast disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180202"}
xref: GARD:20198 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180202 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015859
name: obsolete rare non-malformative uterovaginal or vulvovaginal disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180205"}
xref: GARD:20199 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180205 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015860
name: obsolete anomaly of puberty or/and menstrual cycle
subset: ordo_group_of_disorders {source="Orphanet:180208"}
xref: GARD:20200 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180208 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015861
name: obsolete rare uterine adnexal tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180220"}
synonym: "syn: Rare tumor of ovaries and fallopian tubes" EXACT [Orphanet:180220]
xref: GARD:20201 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180220 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015862
name: obsolete embryonal carcinoma
is_obsolete: true
replaced_by: MONDO:0005440

[Term]
id: MONDO:0015863
name: polyembryoma
def: "Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known." [https://rarediseases.info.nih.gov/diseases/9621/polyembryoma]
subset: gard_rare {source="GARD:9621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180229"}
subset: orphanet_rare {source="Orphanet:180229"}
subset: rare
synonym: "gonadal polyembryoma" RELATED [GARD:0009621]
xref: GARD:9621 {source="MONDO:GARD"}
xref: MEDGEN:83160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200068 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C66776 {source="MONDO:equivalentTo"}
xref: Orphanet:180229 {source="MONDO:equivalentTo"}
xref: UMLS:C0334518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83160"}
is_a: MONDO:0006290 {source="NCIT:C66776"} ! malignant germ cell tumor
is_a: MONDO:0020539 {source="Orphanet:180229"} ! extragonadal non-dysgerminomatous germ cell tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9621/polyembryoma" xsd:anyURI {source="GARD:0009621"}

[Term]
id: MONDO:0015864
name: mixed germ cell tumor
def: "A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum." [NCIT:C4290]
subset: gard_rare {source="GARD:20202", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:180234"}
subset: orphanet_rare {source="Orphanet:180234"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined germ cell neoplasm" EXACT [NCIT:C4290]
synonym: "combined germ cell tumor" EXACT [NCIT:C4290]
synonym: "combined germ cell tumour" EXACT OMO:0003005 []
synonym: "mixed germ cell cancer" EXACT [MONDO:0002600]
synonym: "mixed germ cell neoplasm" EXACT [NCIT:C4290]
synonym: "mixed germ cell tumor" EXACT [DOID:3306, NCIT:C4290]
synonym: "mixed teratoma and seminoma" RELATED EXCLUDE [DOID:3306]
xref: DOID:3306 {source="MONDO:equivalentTo"}
xref: GARD:20202 {source="MONDO:GARD"}
xref: ICDO:9085/3 {source="NCIT:C4290"}
xref: MEDGEN:87257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200071 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4290 {source="MONDO:equivalentTo", source="DOID:3306"}
xref: NCIT:C9010 {source="DOID:3306"}
xref: Orphanet:180234 {source="MONDO:equivalentTo"}
xref: SCTID:189853002 {source="DOID:3306"}
xref: SCTID:32844007 {source="DOID:3306"}
xref: UMLS:C0334524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87257"}
is_a: MONDO:0005040 {source="DOID:3306", source="MONDO:0015864/inferred", source="NCIT:C4290/inferred"} ! germ cell tumor
is_a: MONDO:0006290 {source="NCIT:C4290"} ! malignant germ cell tumor
relationship: excluded_subClassOf MONDO:0020539 {source="Orphanet:180234", source="https://orcid.org/0000-0001-5208-3432"} ! extragonadal non-dysgerminomatous germ cell tumor

[Term]
id: MONDO:0015865
name: obsolete benign tumor of fallopian tubes
is_obsolete: true
replaced_by: MONDO:0000645

[Term]
id: MONDO:0015866
name: obsolete malignant tumor of fallopian tubes
is_obsolete: true
replaced_by: MONDO:0002158

[Term]
id: MONDO:0015867
name: vaginal carcinoma
def: "A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas." [NCIT:P378]
subset: gard_rare {source="GARD:9348", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:180247"}
subset: orphanet_rare {source="Orphanet:180247"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of the vagina" BROAD [NCIT:C3917]
synonym: "cancer of vagina" BROAD [NCIT:C3917]
synonym: "carcinoma of the vagina" EXACT [NCIT:C3917]
synonym: "carcinoma of vagina" EXACT [MONDO:patterns/carcinoma, NCIT:C3917]
synonym: "vagina cancer" BROAD [NCIT:C3917]
synonym: "vagina carcinoma" EXACT [MONDO:patterns/location, NCIT:C3917]
synonym: "vaginal cancer" BROAD [NCIT:C3917]
synonym: "vaginal cancer, NOS" BROAD [NCIT:C3917]
synonym: "vaginal carcinoma" EXACT [NCIT:C3917]
synonym: "vaginal malignant epithelial tumor" BROAD [Orphanet:180247]
synonym: "vaginal malignant epithelial tumour" BROAD OMO:0003005 []
xref: DOID:0050918 {source="MONDO:equivalentTo"}
xref: GARD:9348 {source="MONDO:GARD"}
xref: ICD10CM:C52 {source="Orphanet:180247/ntbt", source="Orphanet:180247"}
xref: MEDGEN:82653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3917 {source="MONDO:equivalentTo"}
xref: Orphanet:180247 {source="MONDO:equivalentTo"}
xref: UMLS:C0262659 {source="MEDGEN:82653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001402 {source="DOID:0050918", source="MONDO:Redundant", source="NCIT:C3917"} ! vaginal cancer
is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C3917"} ! carcinoma
is_a: MONDO:0021148 {source="MONDO:0015876-obsoleted"} ! female reproductive system neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0015868
name: obsolete rare breast tumor
def: "OBSOLETE. Any of the forms of breast neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180250"}
synonym: "rare breast cancer" NARROW []
synonym: "rare breast neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:20205 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180250 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021100

[Term]
id: MONDO:0015869
name: obsolete rare benign breast tumor
def: "OBSOLETE. Any of the forms of breast benign neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180253"}
synonym: "rare breast benign neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:12775 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180253 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000620

[Term]
id: MONDO:0015870
name: obsolete rare malignant breast tumor
def: "OBSOLETE. Any of the forms of breast cancer that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180257"}
synonym: "rare breast cancer" EXACT [MONDO:patterns/rare, Orphanet:180257]
xref: GARD:12772 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180257 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007254

[Term]
id: MONDO:0015871
name: benign breast phyllodes tumor
def: "A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors." [NCIT:C5196]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:180261"}
subset: orphanet_rare {source="Orphanet:180261"}
subset: rare
synonym: "benign breast phyllodes tumor" EXACT [NCIT:C5196]
synonym: "benign cystosarcoma phyllodes" RELATED [DOID:1631]
synonym: "benign phyllodes neoplasm" BROAD [DOID:1631, NCIT:C4274]
synonym: "benign phyllodes neoplasm of breast" EXACT [NCIT:C5196]
synonym: "benign phyllodes neoplasm of the breast" EXACT [DOID:1631, NCIT:C5196]
synonym: "benign phyllodes tumor of breast" EXACT [NCIT:C5196]
synonym: "benign phyllodes tumor of the breast" EXACT [NCIT:C5196]
synonym: "benign phyllodes tumour of breast" EXACT OMO:0003005 []
synonym: "benign phyllodes tumour of the breast" EXACT OMO:0003005 []
synonym: "BPT" RELATED ABBREVIATION [ONCOTREE:BPT]
synonym: "breast benign phyllodes neoplasm" EXACT [NCIT:C5196]
synonym: "breast phyllodes tumor, benign" EXACT [MONDO:patterns/benign]
synonym: "cystosarcoma phyllode" RELATED [Orphanet:180261]
synonym: "cystosarcoma phyllode of the breast" EXACT [Orphanet:180261]
synonym: "cystosarcoma phyllodes" RELATED [DOID:1631]
synonym: "cystosarcoma phyllodes NOS (morphologic abnormality)" RELATED [DOID:1631]
synonym: "cystosarcoma phyllodes, NOS" RELATED EXCLUDE [DOID:1631]
synonym: "cystosarcoma phylloide" RELATED [Orphanet:180261]
synonym: "cystosarcoma phylloide of the breast" EXACT [Orphanet:180261]
synonym: "phyllode tumor of the breast" RELATED [Orphanet:180261]
synonym: "phyllode tumour of the breast" RELATED OMO:0003005 []
synonym: "phyllodes neoplasm" BROAD [DOID:1631, NCIT:C2977]
synonym: "phyllodes tumor, benign" RELATED EXCLUDE [DOID:1631]
synonym: "phyllodes tumor, benign (morphologic abnormality)" BROAD [DOID:1631]
synonym: "phylloide tumor of the breast" EXACT [Orphanet:180261]
synonym: "phylloide tumour of the breast" EXACT OMO:0003005 []
xref: DOID:1631 {source="MONDO:equivalentTo"}
xref: ICD10CM:D48.6 {source="DOID:1631", source="Orphanet:180261", source="Orphanet:180261/ntbt"}
xref: icd11.foundation:827143668 {source="MONDO:equivalentTo", source="Orphanet:180261", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10011813 {source="Orphanet:180261", source="Orphanet:180261/e"}
xref: MEDGEN:231438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003557 {source="DOID:1631", source="Orphanet:180261", source="Orphanet:180261/e"}
xref: NCIT:C5196 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BPT {source="MONDO:equivalentTo"}
xref: Orphanet:180261 {source="MONDO:equivalentTo"}
xref: SCTID:154641007 {source="DOID:1631"}
xref: SCTID:16566002 {source="DOID:1631"}
xref: SCTID:189505009 {source="DOID:1631"}
xref: SCTID:189825002 {source="DOID:1631"}
xref: SCTID:269651007 {source="DOID:1631"}
xref: SCTID:71232009 {source="DOID:1631"}
xref: SCTID:720344007 {source="MONDO:equivalentTo"}
xref: UMLS:C1332533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231438"}
is_a: MONDO:0000620 {source="DOID:1631", source="MONDO:Redundant", source="NCIT:C5196", source="Orphanet:180261"} ! breast benign neoplasm
is_a: MONDO:0021047 {source="MONDO:Redundant", source="NCIT:C5196", source="ONCOTREE:BPT"} ! breast phyllodes tumor
is_a: MONDO:0037002 {source="MONDO:Redundant", source="NCIT:C5196"} ! benign phyllodes tumor
intersection_of: MONDO:0021047 ! breast phyllodes tumor
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015869"} ! rare

[Term]
id: MONDO:0015872
name: obsolete giant adenofibroma of the breast
subset: nord_rare {source="MONDO:NORD"}
xref: GARD:20206 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7047" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004150

[Term]
id: MONDO:0015873
name: Paget disease of the nipple
def: "Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses." [Orphanet:180275]
subset: gard_rare {source="GARD:7303", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1544"}
subset: ordo_disorder {source="Orphanet:180275"}
subset: orphanet_rare {source="Orphanet:180275"}
subset: rare
synonym: "mammary Paget disease" BROAD [Orphanet:180275]
synonym: "nipple Paget's disease" EXACT [NCIT:C3301]
synonym: "Paget disease of the breast" BROAD [Orphanet:180275]
synonym: "Paget disease of the nipple" EXACT [NCIT:C3301]
synonym: "Paget's disease of nipple" EXACT [NCIT:C3301]
synonym: "Paget's Disease of the Breast" EXACT [NORD:1544]
synonym: "Paget's disease of the nipple" EXACT [NCIT:C3301, Orphanet:180275]
synonym: "Paget's disease, mammary" RELATED [GARD:0007303]
synonym: "PD" RELATED ABBREVIATION [ONCOTREE:PD]
xref: GARD:7303 {source="MONDO:GARD"}
xref: ICD10CM:C50.0 {source="Orphanet:180275", source="Orphanet:180275/ntbt"}
xref: icd11.foundation:1295910447 {source="MONDO:equivalentTo", source="Orphanet:180275", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10033367 {source="Orphanet:180275", source="Orphanet:180275/e"}
xref: MEDGEN:352830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010144 {source="Orphanet:180275", source="Orphanet:180275/e"}
xref: NCIT:C3301 {source="MONDO:equivalentTo"}
xref: NORD:1544 {source="MONDO:NORD"}
xref: ONCOTREE:PD {source="MONDO:equivalentTo"}
xref: Orphanet:180275 {source="MONDO:equivalentTo"}
xref: SCTID:403946000 {source="MONDO:equivalentTo"}
xref: UMLS:C1704323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:352830"}
is_a: MONDO:0002648 {source="NCIT:C3301"} ! mammary Paget disease
is_a: MONDO:0003950 {source="NCIT:C3301"} ! nipple carcinoma
is_a: MONDO:0007254 {source="MONDO:Redundant", source="Orphanet:180275"} ! breast cancer
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015870"} ! rare

[Term]
id: MONDO:0015874
name: benign ductal tumor of breast
xref: ICD10CM:D24 {source="Orphanet:180284", source="Orphanet:180284/ntbt"}
xref: Orphanet:180284 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0021100 {source="Orphanet:180284"} ! breast neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015868"} ! rare

[Term]
id: MONDO:0015875
name: obsolete rare non-malformative uterine adnexal disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180303"}
xref: GARD:20207 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180303 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015876
name: obsolete rare vulvovaginal tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180312"}
xref: GARD:20208 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180312 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015877
name: obsolete malformative syndrome with dentinogenesis imperfecta
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis'
subset: ordo_group_of_disorders {source="Orphanet:180766"}
xref: GARD:20209 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180766 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019755

[Term]
id: MONDO:0015878
name: obsolete rare disease with autism
comment: This is a grouping class that describes a phenotype that is associated with the disease. We added a subclassOf axiom to the children terms instead.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180772"}
xref: GARD:10248 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180772 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1766" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015879
name: obsolete non-syndromic diaphragmatic or thoracic malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180776"}
synonym: "isolated diaphragmatic or thoracic malformation" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic diaphragmatic or thoracic malformation" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20211 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180776 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4648" xsd:anyURI
is_obsolete: true
consider: MONDO:0005728
consider: MONDO:0015929

[Term]
id: MONDO:0015880
name: obsolete syndromic diaphragmatic or thoracic malformation
subset: ordo_group_of_disorders {source="Orphanet:180779"}
xref: GARD:20212 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180779 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4648" xsd:anyURI
is_obsolete: true
consider: MONDO:0005728
consider: MONDO:0015929

[Term]
id: MONDO:0015881
name: obsolete gastroesophageal tumor
def: "OBSOLETE. A tumor involving the gastroesophageal tissue." [MONDO:patterns/neoplasm]
comment: Reason for obsoletion: Ideally, we'd have tumor types linked to Uberon terms, but Uberon only has UBERON:0007650 esophagogastric junction. An Uberon term for this does not exist.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180821"}
synonym: "rare gastroesophageal tumor" EXACT [Orphanet:180821]
xref: GARD:20213 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:180821 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1760" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015882
name: obsolete rare tumor of pancreas
def: "OBSOLETE. Any of the forms of pancreatic neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:180824"}
synonym: "rare pancreas neoplasm" EXACT []
synonym: "rare pancreas tumor" EXACT []
synonym: "rare pancreatic neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare pancreatic tumor" EXACT [Orphanet:180824]
xref: GARD:9364 {source="MONDO:obsoleteEquivalent"}
xref: MedDRA:10061902 {source="Orphanet:180824", source="Orphanet:180824/e"}
xref: Orphanet:180824 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021040

[Term]
id: MONDO:0015883
name: hidrotic ectodermal dysplasia, Halal type
def: "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." [Orphanet:1809]
subset: gard_rare {source="GARD:280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1809"}
subset: ordo_malformation_syndrome {source="Orphanet:1809"}
subset: orphanet_rare {source="Orphanet:1809"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia with skin anomalies and intellectual disability" EXACT [Orphanet:1809]
synonym: "Halal Setton Wang syndrome" RELATED [GARD:0000280]
synonym: "Halal-Setton-Wang syndrome" EXACT [Orphanet:1809]
synonym: "hidrotic ectodermal dysplasia Halal type" RELATED [GARD:0000280]
synonym: "trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome" EXACT [Orphanet:1809]
xref: GARD:280 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:1809/attributed", source="Orphanet:1809/ntbt", source="Orphanet:1809"}
xref: MEDGEN:443941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535621 {source="MONDO:equivalentTo"}
xref: Orphanet:1809 {source="MONDO:equivalentTo"}
xref: SCTID:721147000 {source="MONDO:equivalentTo"}
xref: UMLS:C2930953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443941"}
is_a: MONDO:0019287 {source="MESH:C535621", source="Orphanet:1809"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0015884
name: autosomal dominant hypohidrotic ectodermal dysplasia
def: "Autosomal dominant form of hypohidrotic ectodermal dysplasia." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:2048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:1810"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1810"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AD-HED" EXACT [Orphanet:1810]
synonym: "autosomal dominant anhidrotic ectodermal dysplasia" EXACT [Orphanet:1810]
synonym: "hypohidrotic ectodermal dysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:2048 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:1810", source="Orphanet:1810/attributed", source="Orphanet:1810/ntbt"}
xref: MEDGEN:539190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1810 {source="MONDO:equivalentTo"}
xref: UMLS:C0265331 {source="MEDGEN:539190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:1810"} ! hypohidrotic ectodermal dysplasia
intersection_of: MONDO:0016535 ! hypohidrotic ectodermal dysplasia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0015885
name: obsolete rare insulin-resistance syndrome
def: "OBSOLETE. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome." [NCIT:C113169]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181368"}
synonym: "insulin Resistance syndrome" EXACT [NCIT:C113169]
xref: GARD:20214 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C113169 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181368 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015886
name: obsolete rare diabetes mellitus type 1
def: "OBSOLETE. Any of the forms of type 1 diabetes mellitus that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181371"}
synonym: "rare insulin-dependent diabetes mellitus" EXACT [Orphanet:181371]
synonym: "rare type 1 diabetes mellitus" EXACT [MONDO:patterns/rare]
xref: GARD:20215 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181371 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005147

[Term]
id: MONDO:0015887
name: obsolete rare diabetes mellitus type 2
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181376"}
synonym: "rare insulin-independent diabetes mellitus" EXACT [Orphanet:181376]
xref: GARD:20216 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181376 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015888
name: obsolete other rare diabetes mellitus
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181381"}
xref: GARD:20217 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181381 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015889
name: obsolete rare hypothalamic or pituitary disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181384"}
xref: GARD:20218 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181384 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015890
name: obsolete rare disorder with congenital hypogonadotropic hypogonadism
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181387"}
synonym: "rare disorder with hypogonadotropic hypogonadism" RELATED [Orphanet:181387]
synonym: "rare disorder with secondary hypogonadism" EXACT [Orphanet:181387]
xref: GARD:20219 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181387 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015891
name: obsolete hypogonadotropic hypogonadism associated with other endocrinopathies
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181390"}
xref: GARD:20220 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181390 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0015892
name: growth hormone insensitivity syndrome
def: "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency." [Orphanet:181393]
subset: disease_grouping
subset: gard_rare {source="GARD:3924", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:181393"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GHIS" EXACT ABBREVIATION [Orphanet:181393]
synonym: "Growth hormone insensitivity syndromes" EXACT [NCIT:C129867]
synonym: "short stature due to a defect in growth hormone receptor or post-receptor pathway" EXACT [Orphanet:181393]
xref: GARD:3924 {source="MONDO:GARD"}
xref: ICD10CM:E34.3 {source="Orphanet:181393/attributed", source="Orphanet:181393/ntbt", source="Orphanet:181393"}
xref: MEDGEN:1384226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100114 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200321 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129867 {source="MONDO:equivalentTo"}
xref: Orphanet:181393 {source="MONDO:equivalentTo"}
xref: UMLS:C4318479 {source="MEDGEN:1384226", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C129867"} ! syndromic disease
is_a: MONDO:0005151 {source="MONDO:0015968-obsoleted", source="MONDO:0019590-obsoleted"} ! endocrine system disorder
is_a: MONDO:0015514 {source="Orphanet:181393"} ! hereditary endocrine growth disease

[Term]
id: MONDO:0015893
name: obsolete rare hypothyroidism
def: "OBSOLETE. Any of the forms of hypothyroidism that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181396"}
synonym: "rare hypothyroidism" EXACT [MONDO:patterns/rare]
xref: GARD:20221 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181396 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005420

[Term]
id: MONDO:0015894
name: obsolete rare hyperthyroidism
def: "OBSOLETE. Any of the forms of hyperthyroidism that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181399"}
synonym: "rare hyperthyroidism" EXACT [MONDO:patterns/rare]
xref: GARD:20222 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E05.0 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"}
xref: ICD10CM:E05.1 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"}
xref: ICD10CM:E05.2 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"}
xref: ICD10CM:E05.3 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"}
xref: ICD10CM:E05.4 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"}
xref: ICD10CM:E05.5 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"}
xref: ICD10CM:E05.8 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"}
xref: ICD10CM:E05.9 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"}
xref: Orphanet:181399 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004425

[Term]
id: MONDO:0015895
name: obsolete syndrome with hypoparathyroidism
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:181402"}
xref: GARD:20223 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:1200775 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100124 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200345 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:181402 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0015896
name: obsolete rare hypoparathyroidism
def: "OBSOLETE. Rare hypoparathyroidism." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181405"}
synonym: "rare hypoparathyroidism" EXACT [MONDO:patterns/rare]
xref: GARD:20224 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E20.0 {source="Orphanet:181405", source="Orphanet:181405/btnt"}
xref: ICD10CM:E20.1 {source="Orphanet:181405", source="Orphanet:181405/btnt"}
xref: ICD10CM:E20.8 {source="Orphanet:181405", source="Orphanet:181405/btnt"}
xref: ICD10CM:E20.9 {source="Orphanet:181405", source="Orphanet:181405/btnt"}
xref: Orphanet:181405 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001220

[Term]
id: MONDO:0015897
name: obsolete rare hyperparathyroidism
def: "OBSOLETE. Rare hyperparathyroidism." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181408"}
synonym: "rare hyperparathyroidism" EXACT [MONDO:patterns/rare]
xref: GARD:20225 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E21.0 {source="Orphanet:181408/btnt", source="Orphanet:181408"}
xref: ICD10CM:E21.1 {source="Orphanet:181408/btnt", source="Orphanet:181408"}
xref: ICD10CM:E21.2 {source="Orphanet:181408/btnt", source="Orphanet:181408"}
xref: ICD10CM:E21.3 {source="Orphanet:181408/btnt", source="Orphanet:181408"}
xref: Orphanet:181408 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001741

[Term]
id: MONDO:0015898
name: adrenogenital syndrome
def: "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children." [MESH:D047808]
subset: disease_grouping
subset: gard_rare {source="GARD:20226", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:181412"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenogenital disorder" EXACT []
synonym: "adrenogenital syndrome" EXACT []
synonym: "androgenital syndrome" EXACT []
synonym: "congenital adrenal hyperplasia" RELATED [Wikipedia:Congenital_adrenal_hyperplasia]
xref: GARD:20226 {source="MONDO:GARD"}
xref: icd11.foundation:131153029 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:181412"}
xref: ICD9:255.2
xref: MedDRA:10061630 {source="Orphanet:181412/e", source="Orphanet:181412"}
xref: MEDGEN:86215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D047808 {source="Orphanet:181412/e", source="MONDO:equivalentTo", source="Orphanet:181412"}
xref: Orphanet:181412 {source="MONDO:equivalentTo"}
xref: SCTID:267395000 {source="MONDO:equivalentTo"}
xref: UMLS:C0302280 {source="MEDGEN:86215", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005495 {source="Orphanet:181412"} ! adrenal gland disorder
relationship: disease_has_basis_in_disruption_of GO:0006694 ! steroid biosynthetic process
relationship: excluded_subClassOf MONDO:0015971 {source="Orphanet:181412", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic adrenal disease

[Term]
id: MONDO:0015899
name: obsolete rare primary hyperaldosteronism
def: "OBSOLETE. Any of the forms of primary aldosteronism that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181415"}
synonym: "rare Conn syndrome" EXACT []
synonym: "rare Conn's syndrome" EXACT []
synonym: "rare primary aldosteronism" EXACT [MONDO:patterns/rare, Orphanet:181415]
xref: GARD:20227 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E26.0 {source="Orphanet:181415", source="Orphanet:181415/ntbt"}
xref: Orphanet:181415 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001422

[Term]
id: MONDO:0015900
name: hypoaldosteronism disease
comment: Editor note: we place the GARD class here as it is implicitly rare
subset: disease_grouping
subset: gard_rare {source="GARD:20228", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:181419"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypoaldosteronism" RELATED [GARD:0002874]
synonym: "rare hypoaldosteronism" EXACT [Orphanet:181419]
xref: GARD:20228 {source="MONDO:GARD"}
xref: ICD10CM:E27.4 {source="Orphanet:181419/ntbt", source="Orphanet:181419"}
xref: MEDGEN:208996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006994 {source="MONDO:equivalentTo"}
xref: NANDO:2100132 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:181419 {source="MONDO:equivalentTo"}
xref: SCTID:60086000 {source="MONDO:equivalentTo"}
xref: UMLS:C0857899 {source="MEDGEN:208996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005495 {source="Orphanet:181419"} ! adrenal gland disorder
relationship: disease_has_feature HP:0004319 ! Decreased circulating aldosterone level

[Term]
id: MONDO:0015901
name: obsolete rare inherited hyperlipidemia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181422"}
synonym: "rare hyperlipidemia" RELATED [Orphanet:181422]
xref: GARD:20229 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E78.0 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"}
xref: ICD10CM:E78.1 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"}
xref: ICD10CM:E78.2 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"}
xref: ICD10CM:E78.3 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"}
xref: ICD10CM:E78.4 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"}
xref: ICD10CM:E78.5 {source="Orphanet:181422/specific", source="MONDO:relatedTo", source="Orphanet:181422/btnt", source="Orphanet:181422"}
xref: ICD9:272.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:181422 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021187

[Term]
id: MONDO:0015902
name: obsolete major hypertriglyceridemia
def: "OBSOLETE. Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential." [Orphanet:181425]
xref: ICD10CM:E78.1 {source="Orphanet:181425/attributed", source="Orphanet:181425/ntbt", source="Orphanet:181425"}
xref: Orphanet:181425 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015903
name: hyperalphalipoproteinemia
def: "An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease." [NCIT:C128806]
subset: disease_grouping
subset: gard_rare {source="GARD:20230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:181428"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HALP1" EXACT ABBREVIATION [NCIT:C128806]
xref: GARD:20230 {source="MONDO:GARD"}
xref: ICD10CM:E78.4 {source="Orphanet:181428/attributed", source="Orphanet:181428/ntbt", source="Orphanet:181428"}
xref: icd11.foundation:1599779547 {source="Orphanet:181428", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:272.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128806 {source="MONDO:equivalentTo"}
xref: Orphanet:181428 {source="MONDO:equivalentTo"}
xref: SCTID:238080004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87465"}
is_a: MONDO:0021187 {source="Orphanet:181428"} ! hyperlipidemia
is_a: MONDO:0037748 {source="NCIT:C128806"} ! hyperlipoproteinemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015901"} ! rare

[Term]
id: MONDO:0015904
name: obsolete rare hypolipidemia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181431"}
xref: GARD:20231 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E78.6 {source="Orphanet:181431/attributed", source="Orphanet:181431/ntbt", source="Orphanet:181431"}
xref: Orphanet:181431 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015905
name: syndromic dyslipidemia
def: "A inherited lipid metabolism disorder that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: disease_grouping
subset: gard_rare {source="GARD:20232", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:181437"}
subset: rare
synonym: "complex dyslipidaemia" EXACT OMO:0003005 []
synonym: "complex dyslipidemia" EXACT []
synonym: "rare syndromic dyslipidaemia" RELATED OMO:0003005 []
synonym: "rare syndromic dyslipidemia" RELATED [Orphanet:181437]
synonym: "syndrome associated with inherited lipid metabolism disorder" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic inherited lipid metabolism disorder" EXACT [MONDO:patterns/syndromic]
xref: GARD:20232 {source="MONDO:GARD"}
xref: MEDGEN:1826171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:181437 {source="MONDO:equivalentTo"}
xref: SCTID:109041000119107 {source="MONDO:equivalentTo"}
xref: UMLS:C5680608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826171"}
is_a: MONDO:0002525 {source="MONDO:Redundant", source="Orphanet:181437"} ! inherited lipid metabolism disorder
intersection_of: MONDO:0002525 ! inherited lipid metabolism disorder
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015123"} ! rare

[Term]
id: MONDO:0015906
name: obsolete rare disorder with hypergonadotropic hypogonadism
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:181441"}
synonym: "rare disorder with primary hypogonadism" EXACT [Orphanet:181441]
xref: GARD:20233 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:181441 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015907
name: epimetaphyseal skeletal dysplasia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2176", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:1819"}
subset: rare
xref: GARD:2176 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:1819", source="Orphanet:1819/attributed", source="Orphanet:1819/ntbt"}
xref: Orphanet:1819 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2176/epimetaphyseal-skeletal-dysplasia" xsd:anyURI {source="GARD:0002176"}

[Term]
id: MONDO:0015908
name: chromomycosis
def: "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." [Orphanet:182]
comment: Editor note: check cutaneous vs subcutaneous
subset: gard_rare {source="GARD:1319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:182"}
subset: orphanet_rare {source="Orphanet:182"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chromoblastomycoses" RELATED [MESH:D002862]
synonym: "chromoblastomycosis" EXACT [MONDO:0005702, Orphanet:182]
synonym: "Chromomycoses" RELATED [MESH:D002862]
synonym: "Chromomycosis" EXACT [DOID:1562]
synonym: "chromomycosis" EXACT [MESH:D002862]
synonym: "dermatitis Verrucosa" RELATED [MESH:D002862]
synonym: "mossy foot disease" EXACT [DOID:1562]
xref: DOID:1562 {source="EFO:0007207", source="MONDO:equivalentTo"}
xref: EFO:0007207 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:1319 {source="MONDO:GARD"}
xref: ICD10CM:B43.0 {source="Orphanet:182", source="Orphanet:182/btnt"}
xref: ICD10CM:B43.1 {source="Orphanet:182", source="Orphanet:182/btnt"}
xref: ICD10CM:B43.2 {source="Orphanet:182", source="Orphanet:182/btnt"}
xref: ICD10CM:B43.8 {source="Orphanet:182", source="Orphanet:182/btnt"}
xref: ICD10CM:B43.9 {source="DOID:1562", source="Orphanet:182", source="Orphanet:182/btnt"}
xref: icd11.foundation:1438584733 {source="MONDO:equivalentTo", source="Orphanet:182", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:117.2 {source="DOID:1562", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10008803 {source="Orphanet:182", source="Orphanet:182/e"}
xref: MEDGEN:3434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002862 {source="DOID:1562", source="EFO:0007207", source="MONDO:equivalentTo", source="Orphanet:182", source="Orphanet:182/e"}
xref: Orphanet:182 {source="MONDO:equivalentTo"}
xref: SCTID:187079000 {source="DOID:1562", source="MONDO:equivalentTo"}
xref: SCTID:187082005 {source="DOID:1562"}
xref: SCTID:187490000 {source="DOID:1562"}
xref: SCTID:238441002 {source="DOID:1562"}
xref: SCTID:7255004 {source="DOID:1562"}
xref: UMLS:C0008582 {source="MEDGEN:3434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000255 {source="DOID:1562", source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! subcutaneous mycosis
is_a: MONDO:0002040 {source="MESH:D002862"} ! dermatomycosis
is_a: MONDO:0002041 {source="Orphanet:182"} ! fungal infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare

[Term]
id: MONDO:0015909
name: aplastic anemia
def: "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:20234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:182040"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:12449 {source="MONDO:equivalentTo"}
xref: GARD:20234 {source="MONDO:GARD"}
xref: ICD10CM:D60-D64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D61.0 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"}
xref: ICD10CM:D61.1 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"}
xref: ICD10CM:D61.2 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"}
xref: ICD10CM:D61.3 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"}
xref: ICD10CM:D61.8 {source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"}
xref: ICD10CM:D61.9 {source="DOID:12449", source="Orphanet:182040", source="Orphanet:182040/btnt", source="Orphanet:182040/specific"}
xref: ICD9:284.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:284.9 {source="DOID:12449", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:8063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000741 {source="DOID:12449", source="MONDO:equivalentTo"}
xref: NANDO:1200295 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200301 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100201 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200693 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2870 {source="DOID:12449", source="MONDO:equivalentTo"}
xref: Orphanet:182040 {source="MONDO:equivalentTo"}
xref: SCTID:154807001 {source="DOID:12449"}
xref: SCTID:191233006 {source="DOID:12449"}
xref: SCTID:191258001 {source="DOID:12449"}
xref: SCTID:267560004 {source="DOID:12449"}
xref: SCTID:304132006 {source="DOID:12449"}
xref: SCTID:305047005 {source="DOID:12449"}
xref: SCTID:306058006 {source="DOID:12449", source="MONDO:equivalentTo"}
xref: SCTID:79000000 {source="DOID:12449"}
xref: UMLS:C0002874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8063"}
is_a: MONDO:0002280 {source="Orphanet:182040"} ! anemia
relationship: excluded_subClassOf MONDO:0100137 {source="PMID:29804726", source="https://orcid.org/0000-0001-5208-3432"} ! telomere syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare

[Term]
id: MONDO:0015910
name: obsolete rare constitutional hemolytic anemia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182043"}
synonym: "rare familial constitutional hemolytic anemia" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "rare genetic constitutional hemolytic anemia" RELATED [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20235 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182043 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003664

[Term]
id: MONDO:0015911
name: obsolete rare acquired hemolytic anemia
def: "OBSOLETE. Hemolytic anemia, the cause of which is not present at birth." [NCIT:C34377]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182047"}
synonym: "Acquired hemolytic Anemia" EXACT [NCIT:C34377]
xref: GARD:20236 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D59.0 {source="MONDO:relatedTo", source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: ICD10CM:D59.1 {source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: ICD10CM:D59.2 {source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: ICD10CM:D59.3 {source="MONDO:relatedTo", source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: ICD10CM:D59.4 {source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: ICD10CM:D59.5 {source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: ICD10CM:D59.6 {source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: ICD10CM:D59.8 {source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: ICD10CM:D59.9 {source="Orphanet:182047/btnt", source="Orphanet:182047"}
xref: NCIT:C34377 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182047 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:4854004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003664

[Term]
id: MONDO:0015912
name: macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
def: "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." [Orphanet:182050]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:180", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:182050"}
subset: orphanet_rare {source="Orphanet:182050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alport syndrome with macrothrombocytopenia" RELATED [OMIM:153640]
synonym: "Alport syndrome with macrothrombocytopenia, formerly" RELATED [OMIM:153640]
synonym: "bleeding disorder, Platelet-type, 6" RELATED [OMIM:155100]
synonym: "Brodie Chole griffin syndrome" RELATED [GARD:0000179]
synonym: "Brodie Chole gryphon syndrome" RELATED OMO:0003005 []
synonym: "Dohle leukocyte inclusions with giant platelets" RELATED [OMIM:155100]
synonym: "Epstein syndrome" EXACT [GARD:0000180, OMIM:153650]
synonym: "Fechtner syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:153640]
synonym: "FTNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:153640]
synonym: "giant platelet syndrome with thrombocytopenia" EXACT [OMIM:155100]
synonym: "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" EXACT CLINGEN_LABEL [OMIM:155100]
synonym: "macrothrombocytopenia and progressive sensorineural deafness" EXACT [OMIM:600208]
synonym: "macrothrombocytopenia progressive deafness" RELATED [GARD:0000179]
synonym: "macrothrombocytopenia with dispersed leukocytic inclusions" RELATED [OMIM:605249]
synonym: "macrothrombocytopenia with leukocyte inclusions" RELATED [OMIM:155100]
synonym: "macrothrombocytopenia, nephritis, and deafness" RELATED [OMIM:153650]
synonym: "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions" RELATED [OMIM:153640]
synonym: "matins" RELATED [OMIM:155100]
synonym: "May-Hegglin anomaly" EXACT [GARD:0000180, MONDO:Lexical, OMIM:155100]
synonym: "May-Hegglin thrombocytopenia" RELATED [Orphanet:850]
synonym: "MHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155100]
synonym: "MYH-9 related disease" EXACT [Orphanet:182050]
synonym: "MYH9 related disorders" RELATED [GARD:0000180]
synonym: "MYH9 related thrombocytopenia" RELATED [GARD:0000180]
synonym: "MYH9-RD" EXACT [Orphanet:182050]
synonym: "MYH9-related disease" EXACT [Orphanet:182050]
synonym: "MYH9-related disorder" EXACT [Orphanet:182050]
synonym: "MYH9-related syndrome" EXACT [Orphanet:182050]
synonym: "MYH9-related syndromic thrombocytopenia" EXACT [Orphanet:182050]
synonym: "SBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605249]
synonym: "Sebastian platelet syndrome" EXACT [GARD:0000180, OMIM:605249]
synonym: "Sebastian syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:605249]
xref: DOID:0060651 {source="MONDO:equivalentTo"}
xref: EFO:0009646 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:180 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="DOID:0060651", source="Orphanet:182050/attributed", source="Orphanet:182050/ntbt", source="Orphanet:182050"}
xref: ICD9:287.33 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:582.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1704278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537831 {source="MONDO:equivalentTo"}
xref: NCIT:C131646 {source="MONDO:equivalentTo"}
xref: NCIT:C158788 {source="MONDO:equivalentTo"}
xref: OMIM:153640 {source="DOID:0060651", source="MONDO:equivalentObsolete"}
xref: OMIM:155100 {source="DOID:0060651", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: OMIM:600208 {source="Orphanet:182050/btnt", source="Orphanet:182050", source="MONDO:equivalentObsolete", source="GARD:0000179"}
xref: OMIM:605249 {source="DOID:0060651", source="MONDO:equivalentObsolete"}
xref: Orphanet:1019 {source="MONDO:equivalentObsolete", source="OMIM:153650"}
xref: Orphanet:182050 {source="DOID:0060651", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:600208"}
xref: Orphanet:1984 {source="MONDO:equivalentObsolete", source="OMIM:153640"}
xref: Orphanet:807 {source="OMIM:605249", source="MONDO:equivalentObsolete"}
xref: Orphanet:850 {source="MONDO:equivalentObsolete", source="OMIM:155100"}
xref: SCTID:234484005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:234485006 {source="MONDO:equivalentTo"}
xref: SCTID:236422008 {source="MONDO:equivalentTo"}
xref: SCTID:712922002 {source="MONDO:equivalentTo"}
xref: UMLS:C5200934 {source="MEDGEN:1704278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="DC-OMIM:155100", source="MONDO:Redundant", source="OMIM:155100"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0002245 {source="DOID:0060651", source="MONDO:Redundant"} ! blood platelet disease
is_a: MONDO:0002254 {source="NCIT:C131639", source="NCIT:C131642", source="NCIT:C131646", source="NCIT:C131650"} ! syndromic disease
is_a: MONDO:0018795 {source="Orphanet:182050"} ! syndromic constitutional thrombocytopenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7579 {source="MONDO:mim2gene_medgen"} ! MYH9
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia" xsd:anyURI {source="GARD:0000180"}

[Term]
id: MONDO:0015913
name: obsolete rare thrombotic disease of hematologic origin
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182054"}
xref: GARD:20237 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182054 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015914
name: primary orthostatic hypotension
def: "Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication." [https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182058"}
subset: otar {source="MONDO:OTAR"}
synonym: "neurogenic orthostatic hypotension" RELATED [GARD:0012959]
xref: MEDGEN:1842969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:182058 {source="MONDO:equivalentTo"}
xref: Orphanet:448426 {source="MONDO:mondoIsBroaderThanSource"}
xref: UMLS:C5680599 {source="MEDGEN:1842969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="Orphanet:182058"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension" xsd:anyURI {source="GARD:0012959"}

[Term]
id: MONDO:0015915
name: obsolete cerebellar malformation
subset: ordo_group_of_disorders {source="Orphanet:182061"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20238 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182061 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015916
name: obsolete rare neuroinflammatory or neuroimmunological disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182064"}
xref: GARD:20239 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182064 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015917
name: obsolete malignant glioma
comment: Moved Orphanet equiv dbxref to parent class (glioma). Therefore obsoleted this term and created a new term that is not equiv to Orphanet:182067.
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2932" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100342

[Term]
id: MONDO:0015918
name: obsolete rare neurodegenerative disease
def: "OBSOLETE. Rare neurodegenerative disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182070"}
synonym: "rare neurodegenerative disease" EXACT [MONDO:patterns/rare]
xref: GARD:20240 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182070 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005559

[Term]
id: MONDO:0015919
name: obsolete syndromic neurometabolic disease with non-X-linked intellectual disability
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurometabolic disease'
xref: Orphanet:182073 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019058

[Term]
id: MONDO:0015920
name: obsolete syndromic neurometabolic disease with X-linked intellectual disability
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurometabolic disease'
xref: Orphanet:182076 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019058

[Term]
id: MONDO:0015921
name: obsolete ARX-related epileptic encephalopathy
subset: ordo_group_of_disorders {source="Orphanet:182079"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20241 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182079 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015922
name: obsolete channelopathy with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: channelopathy
subset: ordo_group_of_disorders {source="Orphanet:182083"}
xref: GARD:20242 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182083 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021016

[Term]
id: MONDO:0015923
name: acquired peripheral neuropathy
def: "An instance of peripheral neuropathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: gard_rare {source="GARD:20243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:182086"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired peripheral neuropathy" EXACT [MONDO:patterns/acquired]
xref: GARD:20243 {source="MONDO:GARD"}
xref: MEDGEN:1842976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:182086 {source="MONDO:equivalentTo"}
xref: UMLS:C5680596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842976"}
is_a: MONDO:0005244 {source="Orphanet:182086"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020126"} ! rare

[Term]
id: MONDO:0015924
name: pulmonary arterial hypertension
def: "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease)." [Orphanet:182090, PMID:30545973]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:7501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1634"}
subset: ordo_group_of_disorders {source="Orphanet:182090"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic pulmonary hypertension" RELATED [GARD:0007501]
synonym: "PAH" EXACT ABBREVIATION [Orphanet:182090]
synonym: "PAH with overt features of venous/capillaries involvement" NARROW [PMID:30545973]
synonym: "PPH" RELATED ABBREVIATION [GARD:0007501]
synonym: "pulmonary arterial hypertension" EXACT CLINGEN_LABEL []
synonym: "PVOD/PCH" NARROW ABBREVIATION [PMID:30545973]
xref: EFO:0001361 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7501 {source="MONDO:GARD"}
xref: icd11.foundation:1931148955 {source="MONDO:equivalentTo", source="Orphanet:182090"}
xref: MedDRA:10064911 {source="Orphanet:182090/e", source="Orphanet:182090"}
xref: MEDGEN:425404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536282 {source="Orphanet:182090/e", source="Orphanet:182090"}
xref: MESH:D000081029 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:1200425 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100103 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200298 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1634 {source="MONDO:NORD"}
xref: Orphanet:182090 {source="MONDO:equivalentTo"}
xref: SCTID:11399002 {source="MONDO:equivalentTo"}
xref: UMLS:C2973725 {source="MONDO:equivalentTo", source="MEDGEN:425404", source="MONDO:MEDGEN"}
is_a: MONDO:0005149 {source="Orphanet:182090"} ! pulmonary hypertension
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019096"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5781" xsd:anyURI

[Term]
id: MONDO:0015925
name: interstitial lung disease
def: "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." [MESH:D017563]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182095"}
subset: otar {source="MONDO:OTAR"}
synonym: "ILD" EXACT ABBREVIATION [DOID:3082, Orphanet:182095]
synonym: "interstitial lung disease" EXACT [MONDO:0005370]
xref: DOID:3082 {source="EFO:0004244", source="MONDO:equivalentTo"}
xref: EFO:0004244 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J80-J84 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J84.9 {source="DOID:3082"}
xref: MedDRA:10022611 {source="Orphanet:182095", source="Orphanet:182095/e"}
xref: MEDGEN:1788738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017563 {source="EFO:0004244", source="Orphanet:182095", source="MONDO:equivalentTo", source="Orphanet:182095/e", source="DOID:3082"}
xref: NCIT:C164315 {source="MONDO:equivalentTo"}
xref: Orphanet:182095 {source="MONDO:equivalentTo"}
xref: SCTID:233703007 {source="EFO:0004244", source="MONDO:equivalentTo", source="DOID:3082"}
xref: SCTID:64667001 {source="DOID:3082"}
xref: UMLS:C5441745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788738"}
is_a: MONDO:0005087 {source="Orphanet:182095"} ! respiratory system disorder
is_a: MONDO:0005275 {source="DOID:3082", source="EFO:0004244", source="MESH:D017563", source="MONDO:Redundant"} ! lung disorder
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung
relationship: disease_has_location UBERON:0008946 {source="https://orcid.org/0000-0002-6601-2165"} ! lung parenchyma

[Term]
id: MONDO:0015926
name: pneumoconiosis
def: "An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis." [NCIT:C26861]
subset: disease_grouping
subset: gard_rare {source="GARD:20245", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:182098"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Black lung disease" RELATED [GARD:0008356]
synonym: "coal worker's pneumoconiosis" RELATED [GARD:0008356]
xref: DOID:10316 {source="MONDO:equivalentTo"}
xref: GARD:20245 {source="MONDO:GARD"}
xref: ICD10CM:J64 {source="DOID:10316"}
xref: icd11.foundation:611962875 {source="MONDO:equivalentTo", source="Orphanet:182098"}
xref: ICD9:505 {source="DOID:10316", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10035653 {source="Orphanet:182098", source="Orphanet:182098/e"}
xref: MEDGEN:19360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011009 {source="DOID:10316", source="MONDO:equivalentTo", source="Orphanet:182098", source="Orphanet:182098/e"}
xref: NCIT:C26861 {source="NCIT:C26861", source="DOID:10316", source="MONDO:equivalentTo"}
xref: Orphanet:182098 {source="MONDO:equivalentTo"}
xref: SCTID:155587002 {source="DOID:10316"}
xref: SCTID:155591007 {source="DOID:10316"}
xref: SCTID:196004000 {source="DOID:10316"}
xref: SCTID:196016006 {source="DOID:10316"}
xref: SCTID:266401007 {source="DOID:10316"}
xref: SCTID:40122008 {source="DOID:10316", source="MONDO:equivalentTo"}
xref: UMLS:C0032273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19360"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163"} ! respiratory system disorder
is_a: MONDO:0015925 {source="https://orcid.org/0000-0002-3458-4839"} ! interstitial lung disease
relationship: disease_has_feature HP:0006530 ! Abnormal pulmonary interstitial morphology
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0015927
name: idiopathic eosinophilic pneumonia
subset: disease_grouping
subset: gard_rare {source="GARD:20246", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:182101"}
subset: rare
xref: GARD:20246 {source="MONDO:GARD"}
xref: ICD10CM:J82 {source="Orphanet:182101", source="Orphanet:182101/ntbt"}
xref: MEDGEN:836928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:182101 {source="MONDO:equivalentTo"}
xref: SCTID:708031000 {source="MONDO:equivalentTo"}
xref: UMLS:C3872845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:836928"}
is_a: MONDO:0005749 {source="https://orcid.org/0000-0001-5208-3432"} ! eosinophilic pneumonia
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0015928
name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:182104"}
synonym: "CTD-ILD" EXACT [Orphanet:182104]
synonym: "secondary ILD in childhood and adulthood associated with a connective tissue disease" EXACT [Orphanet:182104]
xref: GARD:20247 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182104 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0015929
name: thoracic malformation
subset: disease_grouping
subset: gard_rare {source="GARD:20248", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:182108"}
subset: rare
xref: GARD:20248 {source="MONDO:GARD"}
xref: MEDGEN:1842414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201008 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:182108 {source="MONDO:equivalentTo"}
xref: UMLS:C5680597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842414"}
is_a: MONDO:0020001 {source="Orphanet:182108"} ! respiratory or thoracic malformation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0015930
name: obsolete respiratory malformation
subset: ordo_group_of_disorders {source="Orphanet:182111"}
xref: GARD:20249 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182111 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015931
name: obsolete rare urogenital tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182114"}
xref: GARD:20250 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182114 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0015932
name: obsolete non-syndromic urogenital tract malformation of female
def: "OBSOLETE. A non-syndromic urogenital tract malformation that involves the female organism." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:182117"}
synonym: "female organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "isolated urogenital tract malformation of female" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "non-syndromic urogenital tract malformation of female organism" EXACT [MONDO:design_pattern]
synonym: "nonsyndromic urogenital tract malformation of female" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20251 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182117 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015933
name: obsolete non-syndromic urogenital tract malformation of male
def: "OBSOLETE. A non-syndromic urogenital tract malformation that involves the male organism." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:182121"}
synonym: "isolated urogenital tract malformation of male" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "male organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "non-syndromic urogenital tract malformation of male organism" EXACT [MONDO:design_pattern]
synonym: "nonsyndromic urogenital tract malformation of male" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20252 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182121 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015934
name: obsolete non-syndromic urogenital tract malformation of male and female
subset: ordo_group_of_disorders {source="Orphanet:182124"}
synonym: "isolated urogenital tract malformation of male and female" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic urogenital tract malformation of male and female" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20253 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182124 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015935
name: extragonadal germinoma
subset: gard_rare {source="GARD:2005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:182127"}
subset: orphanet_rare {source="Orphanet:182127"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:2005 {source="MONDO:GARD"}
xref: MedDRA:10018207 {source="Orphanet:182127/e", source="Orphanet:182127"}
xref: MEDGEN:1673080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018237 {source="Orphanet:182127/e", source="MONDO:relatedTo", source="Orphanet:182127"}
xref: Orphanet:182127 {source="MONDO:equivalentTo"}
xref: UMLS:C5190513 {source="MEDGEN:1673080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018201 {source="Orphanet:182127"} ! extragonadal germ cell tumor
intersection_of: MONDO:0002598 ! germinoma
intersection_of: MONDO:0018201 ! extragonadal germ cell tumor

[Term]
id: MONDO:0015936
name: obsolete rare tumor of endocrine glands
def: "OBSOLETE. A rare tumor that involves the endocrine gland." [MONDO:patterns/location]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182130"}
synonym: "endocrine gland rare tumor" EXACT [MONDO:patterns/location]
synonym: "tumor of endocrine glands" RELATED [Orphanet:182130]
xref: GARD:20254 {source="MONDO:obsoleteEquivalent"}
xref: MedDRA:10061121 {source="Orphanet:182130", source="Orphanet:182130/e"}
xref: Orphanet:182130 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002082

[Term]
id: MONDO:0015937
name: obsolete rare inflammatory eye disease
subset: disease_grouping
xref: Orphanet:182214 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015938
name: obsolete systemic disease
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3596" xsd:anyURI
is_obsolete: true
consider: MONDO:0000001

[Term]
id: MONDO:0015939
name: obsolete systemic autoimmune disease
def: "OBSOLETE. An autoimmune form of systemic disease." [MONDO:patterns/autoimmune]
comment: This is a grouping class that is considered out of scope.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182228"}
synonym: "autoimmune systemic disease" EXACT []
xref: GARD:20256 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182228 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI
is_obsolete: true
consider: MONDO:0007179

[Term]
id: MONDO:0015940
name: obsolete rare rheumatologic disease
def: "OBSOLETE. Any of the forms of rheumatologic disorder that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:182231"}
synonym: "rare rheumatologic disorder" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/rare]
synonym: "rare rheumatological disease" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20257 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182231 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005554

[Term]
id: MONDO:0015941
name: epiphyseal dysplasia-hearing loss-dysmorphism syndrome
def: "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." [Orphanet:1825]
subset: gard_rare {source="GARD:2178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1825"}
subset: ordo_malformation_syndrome {source="Orphanet:1825"}
subset: orphanet_rare {source="Orphanet:1825"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epiphyseal dysplasia hearing loss dysmorphism" RELATED [GARD:0002178]
synonym: "Finucane Kurtz Scott syndrome" RELATED [GARD:0002178]
synonym: "Finucane-Kurtz-Scott syndrome" EXACT [Orphanet:1825]
xref: GARD:2178 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1825/attributed", source="Orphanet:1825/ntbt", source="Orphanet:1825"}
xref: MEDGEN:1643947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1825 {source="GARD:0002178", source="MONDO:equivalentTo"}
xref: SCTID:766870005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707857 {source="MEDGEN:1643947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:1825"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1825", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism" xsd:anyURI {source="GARD:0002178"}

[Term]
id: MONDO:0015942
name: frontometaphyseal dysplasia
def: "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss." [Orphanet:1826]
subset: gard_rare {source="GARD:826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1826"}
subset: orphanet_rare {source="Orphanet:1826"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "FMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305620]
synonym: "frontometaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:305620]
xref: DOID:0111785 {source="MONDO:equivalentTo"}
xref: GARD:826 {source="MONDO:GARD"}
xref: ICD10CM:Q78.5 {source="Orphanet:1826/attributed", source="Orphanet:1826/ntbt", source="Orphanet:1826"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538064 {source="Orphanet:1826/e", source="MONDO:equivalentTo", source="Orphanet:1826"}
xref: OMIMPS:305620 {source="MONDO:equivalentTo"}
xref: Orphanet:1826 {source="OMIM:305620", source="MONDO:equivalentTo"}
xref: SCTID:62803002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82703"}
is_a: MONDO:0018233 {source="Orphanet:1826"} ! otopalatodigital syndrome spectrum disorder
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:1826", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1826", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:305620"} ! inherited

[Term]
id: MONDO:0015943
name: eosinophilic granulomatosis with polyangiitis
def: "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia." [Orphanet:183]
subset: gard_rare {source="GARD:6111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:973"}
subset: ordo_disorder {source="Orphanet:183"}
subset: orphanet_rare {source="Orphanet:183"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "allergic angiitides" EXACT [MESH:D015267]
synonym: "allergic angiitides, granulomatous" EXACT [MESH:D015267]
synonym: "allergic angiitis" EXACT [MESH:D015267]
synonym: "allergic angiitis and granulomatosis" EXACT [MESH:D015267]
synonym: "allergic angiitis, granulomatous" EXACT [MESH:D015267]
synonym: "allergic granulomatoses" EXACT [MESH:D015267]
synonym: "allergic granulomatosis" EXACT [MESH:D015267, NCIT:C34481]
synonym: "allergic granulomatosis angiitis" EXACT [DOID:3049]
synonym: "allergic granulomatous and angiitis" EXACT [MESH:D015267]
synonym: "allergic granulomatous Angiitides" EXACT [MESH:D015267]
synonym: "allergic granulomatous angiitis" EXACT [DOID:3049, MESH:D015267, NCIT:C34481]
synonym: "angiitides, allergic" EXACT [MESH:D015267]
synonym: "angiitides, allergic granulomatous" EXACT [MESH:D015267]
synonym: "angiitides, granulomatous allergic" EXACT [MESH:D015267]
synonym: "angiitis, allergic" EXACT [MESH:D015267]
synonym: "angiitis, allergic granulomatous" EXACT [MESH:D015267]
synonym: "angiitis, granulomatous allergic" EXACT [MESH:D015267]
synonym: "Churg Strauss Syndrome" EXACT [NORD:973]
synonym: "Churg Strauss syndrome" EXACT [MESH:D015267]
synonym: "Churg-Strauss syndrome" EXACT [MONDO:0005703, NCIT:C34481, Orphanet:183]
synonym: "Churg-Strauss vasculitis" EXACT [DOID:3049, MESH:D015267]
synonym: "CSS" EXACT ABBREVIATION [https://orcid.org/0000-0002-8719-7760]
synonym: "EGPA" EXACT ABBREVIATION [Orphanet:183]
synonym: "eosinophilic granulomatous Vasculitides" EXACT [MESH:D015267]
synonym: "eosinophilic granulomatous vasculitis" EXACT [MESH:D015267]
synonym: "granulomatoses, allergic" EXACT [MESH:D015267]
synonym: "granulomatosis, allergic" EXACT [MESH:D015267]
synonym: "granulomatous allergic Angiitides" EXACT [MESH:D015267]
synonym: "granulomatous allergic angiitis" EXACT [MESH:D015267, Orphanet:183]
synonym: "granulomatous angiitides, allergic" EXACT [MESH:D015267]
synonym: "granulomatous angiitis, allergic" EXACT [MESH:D015267]
synonym: "granulomatous vasculitides, eosinophilic" EXACT [MESH:D015267]
synonym: "granulomatous vasculitis, eosinophilic" EXACT [MESH:D015267]
synonym: "syndrome, Churg-Strauss" EXACT [MESH:D015267]
synonym: "vasculitides, eosinophilic granulomatous" EXACT [MESH:D015267]
synonym: "vasculitis, Churg Strauss" EXACT [MESH:D015267]
synonym: "vasculitis, Churg-Strauss" EXACT [MESH:D015267]
synonym: "vasculitis, eosinophilic granulomatous" EXACT [MESH:D015267]
xref: DOID:3049 {source="MONDO:equivalentTo", source="EFO:0007208"}
xref: EFO:0007208 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6111 {source="MONDO:GARD"}
xref: ICD10CM:M30.1 {source="DOID:3049", source="Orphanet:183", source="Orphanet:183/e"}
xref: icd11.foundation:835880885 {source="MONDO:equivalentTo", source="Orphanet:183"}
xref: MedDRA:10048594 {source="Orphanet:183", source="Orphanet:183/e"}
xref: MEDGEN:3088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531653 {source="Orphanet:183", source="Orphanet:183/e"}
xref: MESH:D015267 {source="DOID:3049", source="MONDO:equivalentTo", source="EFO:0007208", source="Orphanet:183", source="Orphanet:183/e"}
xref: NANDO:1200264 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200427 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34481 {source="DOID:3049", source="MONDO:equivalentTo"}
xref: NORD:973 {source="MONDO:NORD"}
xref: Orphanet:183 {source="MONDO:equivalentTo"}
xref: SCTID:195362002 {source="DOID:3049"}
xref: SCTID:82275008 {source="DOID:3049", source="MONDO:equivalentTo"}
xref: UMLS:C0008728 {source="MEDGEN:3088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C34481"} ! syndromic disease
is_a: MONDO:0012105 {source="https://github.com/monarch-initiative/mondo/issues/1214"} ! granulomatosis with polyangiitis
is_a: MONDO:0015492 {source="MESH:D015267", source="Orphanet:183"} ! anti-neutrophil cytoplasmic antibody-associated vasculitis
is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis
relationship: disease_has_feature HP:0002099 ! Asthma
relationship: disease_has_feature HP:0002239 ! Gastrointestinal hemorrhage
relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:183", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy
relationship: excluded_subClassOf MONDO:0017952 {source="Orphanet:183", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-familial rare disease with dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:183", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5625" xsd:anyURI

[Term]
id: MONDO:0015944
name: axial mesodermal dysplasia spectrum
def: "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." [Orphanet:1834]
subset: gard_rare {source="GARD:213", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1834"}
subset: ordo_malformation_syndrome {source="Orphanet:1834"}
subset: orphanet_rare {source="Orphanet:1834"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blastogenesis defect" EXACT [Orphanet:1834]
synonym: "Russell Weaver Bull syndrome" RELATED [GARD:0000213]
synonym: "Russell-Weaver-Bull syndrome" EXACT [Orphanet:1834]
xref: GARD:213 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1834/attributed", source="Orphanet:1834/ntbt", source="Orphanet:1834"}
xref: MEDGEN:419853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537790 {source="Orphanet:1834/e", source="MONDO:equivalentTo", source="Orphanet:1834"}
xref: Orphanet:1834 {source="MONDO:equivalentTo"}
xref: SCTID:765755006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419853"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum" xsd:anyURI {source="GARD:0000213"}

[Term]
id: MONDO:0015945
name: obsolete polymalformative genetic syndrome with increased risk of developing cancer
def: "OBSOLETE. Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." [Orphanet:183422]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hereditary neoplastic syndrome'
subset: ordo_group_of_disorders {source="Orphanet:183422"}
synonym: "PGSIRC" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20259 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183422 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015356

[Term]
id: MONDO:0015946
name: obsolete rare genetic epidermal disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183426"}
synonym: "genetic epidermal disorder" RELATED [Orphanet:183426]
xref: GARD:20260 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183426 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015947
name: inherited ichthyosis
def: "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary, PMID:20643494]
subset: disease_grouping
subset: gard_rare {source="GARD:20261", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ichthyosis" RELATED []
synonym: "congenital ichthyosis of skin" EXACT []
synonym: "fish scale disease" RELATED []
synonym: "fish skin" RELATED []
synonym: "genetic ichthyosis" EXACT [Orphanet:183435]
synonym: "hereditary ichthyosis (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "ichthyosis congenita" RELATED []
synonym: "inherited genetic ichthyosis" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20261 {source="MONDO:GARD"}
xref: ICD10CM:Q80 {source="MONDO:equivalentTo"}
xref: ICD9:757.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10021202 {source="Orphanet:183435/e", source="Orphanet:183435"}
xref: MEDGEN:797407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200609 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100283 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:183435 {source="MONDO:equivalentTo"}
xref: SCTID:13059002 {source="MONDO:equivalentTo"}
xref: UMLS:C0856562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:797407"}
is_a: MONDO:0003847 {source="MONDO:Entailed", source="Orphanet:183435/inferred"} ! hereditary disease
is_a: MONDO:0019269 {source="MONDO:Redundant", source="Orphanet:183435"} ! ichthyosis
intersection_of: MONDO:0019269 ! ichthyosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4293" xsd:anyURI

[Term]
id: MONDO:0015948
name: obsolete rare genetic skin vascular disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183478"}
synonym: "genetic skin vascular disorder" RELATED [Orphanet:183478]
xref: GARD:20273 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183478 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015949
name: obsolete rare genetic subcutaneous tissue disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183484"}
synonym: "genetic subcutaneous tissue disorder" RELATED [Orphanet:183484]
xref: GARD:20275 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183484 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0015950
name: obsolete inherited skin tumor
subset: ordo_group_of_disorders {source="Orphanet:183487"}
synonym: "genetic skin tumor" RELATED [Orphanet:183487]
synonym: "genetic skin tumour" RELATED OMO:0003005 []
xref: GARD:20276 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183487 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015951
name: hereditary photodermatosis
def: "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies." [https://pubmed.ncbi.nlm.nih.gov/27745641]
subset: disease_grouping
subset: gard_rare {source="GARD:20277", source="MONDO:GARD"}
subset: mondo_rare {source="PMID:27745641"}
subset: ordo_group_of_disorders {source="Orphanet:183490"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic photosensitivity" EXACT []
synonym: "genetic skin photosensitivity" EXACT [Orphanet:183490]
synonym: "photogenodermatosis" BROAD [Orphanet:183490]
synonym: "photogénodermatose" BROAD [Orphanet:183490]
xref: GARD:20277 {source="MONDO:GARD"}
xref: MEDGEN:1842494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:183490 {source="MONDO:equivalentTo"}
xref: UMLS:C5679594 {source="MEDGEN:1842494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="Orphanet:183490"} ! skin disorder
relationship: disease_has_feature HP:0000992 ! Cutaneous photosensitivity
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043", source="PMID:27745641"} ! rare
relationship: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0015952
name: obsolete genetic neurodegenerative disease
is_obsolete: true
replaced_by: MONDO:0024237

[Term]
id: MONDO:0015953
name: obsolete genetic central nervous system and retinal vascular disease
subset: ordo_group_of_disorders {source="Orphanet:183503"}
xref: GARD:20281 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183503 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0005071

[Term]
id: MONDO:0015954
name: obsolete rare genetic headache disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183509"}
synonym: "rare genetic headache" EXACT [Orphanet:183509]
xref: GARD:20283 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183509 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021146

[Term]
id: MONDO:0015955
name: obsolete rare genetic epilepsy
def: "OBSOLETE. A form of epilepsy that is both rare and inborn." [MONDO:patterns/rare_genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183512"}
synonym: "rare genetic epilepsy" EXACT []
xref: GARD:20284 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183512 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005027

[Term]
id: MONDO:0015956
name: obsolete rare hereditary ataxia
def: "OBSOLETE. Rare hereditary ataxia." [MONDO:patterns/rare]
is_obsolete: true
replaced_by: MONDO:0000557

[Term]
id: MONDO:0015957
name: obsolete rare genetic movement disorder
def: "OBSOLETE. Rare genetic movement disorder." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183521"}
synonym: "rare genetic movement disorder" EXACT []
xref: GARD:20287 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183521 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0015958
name: obsolete rare genetic bone disease
def: "OBSOLETE. Rare genetic bone disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183524"}
synonym: "rare genetic bone disease" EXACT []
xref: GARD:20288 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183524 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005381

[Term]
id: MONDO:0015959
name: obsolete inherited syndrome with bone tumors as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183527"}
synonym: "genetic bone tumor" RELATED [Orphanet:183527]
xref: GARD:20289 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183527 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0015960
name: obsolete rare genetic developmental defect during embryogenesis
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183530"}
xref: GARD:20290 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183530 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021147

[Term]
id: MONDO:0015961
name: obsolete hereditary head and neck malformation
subset: ordo_group_of_disorders {source="Orphanet:183583"}
synonym: "genetic head and neck malformation" EXACT [Orphanet:183583]
xref: GARD:20303 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q10-Q18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:183583 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015962
name: inherited renal tubular disease
subset: disease_grouping
subset: gard_rare {source="GARD:20306", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183592"}
subset: rare
synonym: "genetic renal tubular disease" RELATED [Orphanet:183592]
xref: GARD:20306 {source="MONDO:GARD"}
xref: MEDGEN:1826140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:183592 {source="MONDO:equivalentTo"}
xref: UMLS:C5680544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826140"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:183592"} ! kidney disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0009773 ! renal tubule
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare

[Term]
id: MONDO:0015963
name: obsolete inherited renal tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183595"}
synonym: "genetic renal tumor" RELATED [Orphanet:183595]
xref: GARD:20307 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183595 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0015964
name: obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease
comment: Obsolete in Orphanet
xref: Orphanet:183598 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015965
name: obsolete rare genetic refraction anomaly
subset: disease_grouping
xref: Orphanet:183601 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015966
name: obsolete hereditary eye tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183619"}
synonym: "genetic eye tumor" RELATED [Orphanet:183619]
xref: GARD:20310 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183619 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0015967
name: monogenic diabetes
def: "Diabetes mellitus that is caused by mutations in a single gene." [https://doi.org/10.2337/dci20-0065]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:183625"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "monogenic diabetes" EXACT CLINGEN_LABEL []
synonym: "rare genetic diabetes mellitus" EXACT []
xref: EFO:1001511 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1392102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129739 {source="MONDO:equivalentTo"}
xref: Orphanet:183625 {source="MONDO:equivalentTo"}
xref: UMLS:C3888631 {source="MEDGEN:1392102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/1022"} ! hereditary disease
intersection_of: MONDO:0005015 ! diabetes mellitus
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI

[Term]
id: MONDO:0015968
name: obsolete rare genetic hypothalamic or pituitary disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183628"}
xref: GARD:20313 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183628 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015969
name: obsolete rare genetic thyroid disease
def: "OBSOLETE. Rare genetic thyroid disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183631"}
synonym: "rare genetic thyroid disease" EXACT []
xref: GARD:20314 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183631 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003240

[Term]
id: MONDO:0015970
name: obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183634"}
xref: GARD:20315 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183634 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015971
name: obsolete rare genetic adrenal disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183637"}
xref: GARD:20316 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183637 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005495

[Term]
id: MONDO:0015972
name: obsolete rare constitutional anemia
def: "OBSOLETE. A form of anemia (disease) that is both rare and inborn." [MONDO:patterns/rare_genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183651"}
synonym: "rare constitutional anemia (disease)" EXACT [MONDO:patterns/rare_genetic]
synonym: "rare genetic anemia (disease)" EXACT []
synonym: "rare inborn anemia (disease)" EXACT [MONDO:patterns/rare_genetic]
xref: GARD:20318 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183651 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002280

[Term]
id: MONDO:0015973
name: obsolete rare genetic coagulation disorder
is_obsolete: true
replaced_by: MONDO:0021181

[Term]
id: MONDO:0015974
name: severe combined immunodeficiency
def: "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." [Orphanet:183660]
subset: disease_grouping
subset: gard_rare {source="GARD:7628", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1706", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:183660"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined T and B cell inborn immunodeficiency" EXACT [DOID:627]
synonym: "SCID" EXACT ABBREVIATION [DOID:627, NCIT:C3472, Orphanet:183660]
synonym: "severe combined immunodeficiency" EXACT CLINGEN_LABEL [MONDO:ambiguous, NCIT:C3472]
synonym: "severe combined immunodeficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0003833]
synonym: "severe combined immunodeficiency disease" EXACT [NCIT:C3472]
xref: DOID:627 {source="MONDO:equivalentTo"}
xref: GARD:7628 {source="MONDO:GARD"}
xref: HP:0004430 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D81.0 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"}
xref: ICD10CM:D81.1 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"}
xref: ICD10CM:D81.2 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"}
xref: ICD10CM:D81.3 {source="Orphanet:183660", source="Orphanet:183660/specific", source="Orphanet:183660/btnt"}
xref: ICD10CM:D81.9 {source="Orphanet:183660/inclusion", source="Orphanet:183660", source="Orphanet:183660/btnt"}
xref: icd11.foundation:963193284 {source="MONDO:equivalentTo", source="Orphanet:183660", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10069566 {source="Orphanet:183660", source="Orphanet:183660/e"}
xref: MEDGEN:88328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016511 {source="MONDO:equivalentTo", source="DOID:627", source="Orphanet:183660", source="Orphanet:183660/e"}
xref: NCIT:C3472 {source="MONDO:equivalentTo", source="DOID:627"}
xref: NORD:1706 {source="MONDO:NORD"}
xref: Orphanet:183660 {source="MONDO:equivalentTo"}
xref: SCTID:190994004 {source="DOID:627"}
xref: SCTID:31323000 {source="MONDO:equivalentTo", source="DOID:627"}
xref: UMLS:C0085110 {source="MEDGEN:88328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015131 {source="DOID:627", source="NCIT:C3472", source="Orphanet:183660"} ! combined immunodeficiency
disjoint_from: MONDO:0018814 {source="https://orcid.org/0000-0002-6601-2165"} ! non-SCID combined immunodeficiency
property_value: IAO:0000589 "severe combined immunodeficiency (disease)" xsd:string

[Term]
id: MONDO:0015975
name: obsolete hyper-IgM syndrome with susceptibility to opportunistic infections
subset: ordo_disorder {source="Orphanet:183663"}
synonym: "HIGM with susceptibility to opportunistic infections" EXACT [Orphanet:183663]
xref: GARD:17084 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D80.5 {source="Orphanet:183663", source="Orphanet:183663/attributed", source="Orphanet:183663/ntbt"}
xref: Orphanet:183663 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:183663", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015976
name: obsolete hyper-IgM syndrome without susceptibility to opportunistic infections
subset: ordo_disorder {source="Orphanet:183666"}
synonym: "HIGM without susceptibility to opportunistic infections" EXACT [Orphanet:183666]
xref: GARD:17085 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D80.5 {source="Orphanet:183666/attributed", source="Orphanet:183666/ntbt", source="Orphanet:183666"}
xref: Orphanet:183666 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0015977
name: agammaglobulinemia
def: "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:20320", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183669"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agammaglobulinemia" EXACT CLINGEN_LABEL []
synonym: "antibody Deficiency" RELATED [GARD:0007455]
synonym: "Gammaglobulin Deficiency" RELATED [GARD:0007455]
synonym: "hypogammaglobulinemia" EXACT [DOID:2583, NCIT:C26931]
synonym: "IGHM" EXACT ABBREVIATION [DOID:2583]
synonym: "Immunoglobulin Deficiency" RELATED [GARD:0007455]
synonym: "mu heavy chain deficiency" EXACT [DOID:2583]
xref: DOID:2583 {source="MONDO:equivalentTo"}
xref: GARD:20320 {source="MONDO:GARD"}
xref: ICD10CM:D80.1 {source="DOID:2583"}
xref: ICD9:279.00 {source="DOID:2583"}
xref: MedDRA:10001471 {source="Orphanet:183669/e", source="Orphanet:183669"}
xref: MEDGEN:168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000361 {source="DOID:2583", source="Orphanet:183669/e", source="MONDO:equivalentTo", source="Orphanet:183669"}
xref: NCIT:C26931 {source="DOID:2583"}
xref: OMIMPS:601495 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:183669 {source="MONDO:equivalentTo"}
xref: SCTID:119249001 {source="DOID:2583"}
xref: SCTID:119250001 {source="DOID:2583"}
xref: SCTID:190977001 {source="DOID:2583"}
xref: SCTID:190978006 {source="DOID:2583"}
xref: SCTID:267512002 {source="DOID:2583"}
xref: SCTID:81282009 {source="DOID:2583"}
xref: UMLS:C0001768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:168"}
is_a: MONDO:0002211 {source="DOID:2583"} ! B cell deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601495"} ! inherited

[Term]
id: MONDO:0015978
name: functional neutrophil defect
subset: disease_grouping
subset: gard_rare {source="GARD:20321", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183681"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutrophil disease" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "neutrophilopathy" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20321 {source="MONDO:GARD"}
xref: icd11.foundation:808756909 {source="Orphanet:183681", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:183681 {source="MONDO:equivalentTo"}
xref: SCTID:105600002 {source="MONDO:equivalentTo"}
xref: UMLS:C5681846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842428"}
is_a: MONDO:0004805 {source="https://orcid.org/0000-0001-7941-2961"} ! leukocyte disorder
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of CL:0000775 ! neutrophil
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0015979
name: obsolete hereditary predisposition to infections
subset: ordo_group_of_disorders {source="Orphanet:183710"}
synonym: "genetic susceptibility to infections due to particular pathogens" EXACT [Orphanet:183710]
xref: GARD:20322 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D84.8 {source="Orphanet:183710/attributed", source="Orphanet:183710/ntbt", source="Orphanet:183710"}
xref: Orphanet:183710 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015135 {source="Orphanet:183710", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary immunodeficiency due to a genetic defect in innate immunity
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7619" xsd:anyURI
is_obsolete: true
consider: MONDO:0020573

[Term]
id: MONDO:0015980
name: obsolete rare genetic gynecological and obstetrical diseases
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183731"}
synonym: "rare genetic female reproductive system disease" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20323 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183731 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002263

[Term]
id: MONDO:0015981
name: obsolete inherited gynecological tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183734"}
synonym: "genetic gynecological tumor" EXACT [Orphanet:183734]
synonym: "rare genetic female reproductive system tumor" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20324 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183734 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0015982
name: obsolete rare genetic intellectual disability
def: "OBSOLETE. Rare genetic intellectual disability." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183757"}
synonym: "rare genetic intellectual disability" EXACT []
xref: GARD:20325 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183757 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001071

[Term]
id: MONDO:0015983
name: obsolete rare genetic syndromic intellectual disability
def: "OBSOLETE. Rare genetic syndromic intellectual disability." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183763"}
synonym: "rare genetic syndromic intellectual disability" EXACT []
xref: GARD:20326 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183763 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000508

[Term]
id: MONDO:0015984
name: obsolete rare genetic immune disease
def: "OBSOLETE. Rare genetic immune system disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:183770"}
synonym: "rare genetic immune system disease" EXACT []
xref: GARD:20327 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183770 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005046

[Term]
id: MONDO:0015985
name: bone dysplasia, Azouz type
def: "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." [Orphanet:1844]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: skeletal dysplasia-MONDO:0018230
subset: gard_rare {source="GARD:920", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:1844"}
subset: rare
synonym: "bone dysplasia Azouz type" RELATED [GARD:0000920]
xref: GARD:920 {source="MONDO:GARD"}
xref: ICD10CM:Q78.4 {source="Orphanet:1844/inclusion", source="Orphanet:1844", source="Orphanet:1844/ntbt"}
xref: MEDGEN:929662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1844 {source="MONDO:equivalentObsolete"}
xref: SCTID:720566004 {source="MONDO:equivalentTo"}
xref: UMLS:C4303993 {source="MEDGEN:929662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="Orphanet:1844"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:1844", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7842" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type" xsd:anyURI {source="GARD:0000920"}

[Term]
id: MONDO:0015986
name: bilateral renal agenesis
def: "Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." [Orphanet:1848]
subset: gard_rare {source="GARD:16579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1656"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1848"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral renal aplasia" RELATED [DOID:0080200]
synonym: "Renal Agenesis, Bilateral" EXACT [NORD:1656]
synonym: "renal agenesis, bilateral" RELATED [Orphanet:1848]
xref: DOID:0080200 {source="MONDO:equivalentTo"}
xref: GARD:16579 {source="MONDO:GARD"}
xref: ICD10CM:Q60.1 {source="Orphanet:1848/e", source="Orphanet:1848/specific", source="MONDO:equivalentTo", source="Orphanet:1848"}
xref: MEDGEN:296299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536482 {source="Orphanet:1848/e", source="Orphanet:1848"}
xref: NCIT:C101219 {source="MONDO:equivalentTo"}
xref: NORD:1656 {source="MONDO:NORD"}
xref: Orphanet:1848 {source="DOID:0080200", source="MONDO:equivalentTo"}
xref: UMLS:C1609433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:296299"}
is_a: MONDO:0018470 {source="DOID:0080200", source="NCIT:C101219", source="Orphanet:1848"} ! renal agenesis

[Term]
id: MONDO:0015987
name: scimitar syndrome
def: "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." [Orphanet:185]
subset: gard_rare {source="GARD:18680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:185"}
subset: ordo_malformation_syndrome {source="Orphanet:185"}
subset: orphanet_rare {source="Orphanet:185"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital pulmonary venolobar syndrome" EXACT [Orphanet:185]
synonym: "Epibronchial right pulmonary vein syndrome" EXACT [Orphanet:185]
synonym: "Halasz syndrome" EXACT [Orphanet:185]
synonym: "hypogenetic lung syndrome" EXACT [Orphanet:185]
xref: EFO:1001167 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18680 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:185/ntbt", source="Orphanet:185"}
xref: icd11.foundation:1321054364 {source="MONDO:equivalentTo", source="Orphanet:185"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10051951 {source="Orphanet:185/e", source="Orphanet:185"}
xref: MEDGEN:20675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012587 {source="Orphanet:185/e", source="MONDO:equivalentTo", source="Orphanet:185"}
xref: NCIT:C85056 {source="MONDO:equivalentTo"}
xref: Orphanet:185 {source="MONDO:equivalentTo"}
xref: SCTID:39905002 {source="MONDO:equivalentTo"}
xref: UMLS:C0036400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20675"}
is_a: MONDO:0002254 {source="NCIT:C85056"} ! syndromic disease
is_a: MONDO:0017705 {source="https://orcid.org/0000-0002-6601-2165"} ! congenital pulmonary venous return anomaly
is_a: MONDO:0020292 {source="Orphanet:185"} ! congenital anomaly of the great arteries

[Term]
id: MONDO:0015988
name: multicystic dysplastic kidney
def: "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional." [Orphanet:1851]
subset: gard_rare {source="GARD:18748", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1851"}
subset: ordo_morphological_anomaly {source="Orphanet:1851"}
subset: orphanet_rare {source="Orphanet:1851"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCDK" EXACT ABBREVIATION [Orphanet:1851]
synonym: "multicystic renal dysplasia" EXACT [Orphanet:1851]
xref: GARD:18748 {source="MONDO:GARD"}
xref: ICD10CM:Q61.4 {source="Orphanet:1851/ntbt", source="Orphanet:1851/inclusion", source="Orphanet:1851"}
xref: icd11.foundation:1178642763 {source="Orphanet:1851", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:753.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:811388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D021782 {source="Orphanet:1851", source="MONDO:equivalentTo", source="Orphanet:1851/e"}
xref: NANDO:2200158 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123031 {source="MONDO:equivalentTo"}
xref: Orphanet:1851 {source="MONDO:equivalentTo"}
xref: SCTID:204962002 {source="MONDO:equivalentTo"}
xref: UMLS:C3714581 {source="MEDGEN:811388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002473 {source="MESH:D021782", source="NCIT:C123031"} ! cystic kidney disease
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:1851", source="Orphanet:1851/inferred"} ! kidney disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1851", source="Orphanet:1851/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare

[Term]
id: MONDO:0015989
name: obsolete congenital valvular dysplasia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3085" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010753

[Term]
id: MONDO:0015990
name: focal, segmental or multifocal dystonia
def: "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." [Orphanet:1866]
subset: disease_grouping
subset: gard_rare {source="GARD:18749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:1866"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18749 {source="MONDO:GARD"}
xref: ICD10CM:G24.3 {source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"}
xref: ICD10CM:G24.4 {source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"}
xref: ICD10CM:G24.5 {source="MONDO:relatedTo", source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"}
xref: ICD10CM:G24.8 {source="Orphanet:1866", source="Orphanet:1866/attributed", source="Orphanet:1866/ntbt"}
xref: MEDGEN:1842644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1866 {source="MONDO:equivalentTo"}
xref: UMLS:C5680914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842644"}
is_a: MONDO:0015494 {source="Orphanet:1866"} ! isolated dystonia

[Term]
id: MONDO:0015991
name: citrullinemia
def: "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency)." [Orphanet:187]
subset: disease_grouping
subset: gard_rare {source="GARD:16522", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:187"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ass deficiency" NARROW [DOID:9273]
synonym: "deficiency of citrulline-aspartate ligase" EXACT [DOID:9273]
xref: DOID:9273 {source="MONDO:equivalentTo"}
xref: GARD:16522 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:187/inclusion", source="Orphanet:187/ntbt", source="Orphanet:187"}
xref: ICD10CM:E72.23 {source="MONDO:equivalentTo", source="DOID:9273"}
xref: icd11.foundation:640937125 {source="MONDO:equivalentTo", source="Orphanet:187", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:104491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020159 {source="Orphanet:187/e", source="MONDO:equivalentTo", source="DOID:9273", source="Orphanet:187"}
xref: NCIT:C84639 {source="MONDO:equivalentTo", source="DOID:9273"}
xref: OMIMPS:215700 {source="MONDO:equivalentTo"}
xref: Orphanet:187 {source="MONDO:equivalentTo", source="DOID:9273"}
xref: SCTID:124711003 {source="MONDO:equivalentTo", source="DOID:9273"}
xref: SCTID:15489004 {source="DOID:9273"}
xref: SCTID:398630005 {source="DOID:9273"}
xref: SCTID:398680004 {source="DOID:9273"}
xref: UMLS:C0175683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104491"}
is_a: MONDO:0004739 {source="DOID:9273", source="MESH:D020159", source="MONDO:Redundant", source="NCIT:C84639", source="Orphanet:187"} ! urea cycle disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:215700", source="https://orcid.org/0000-0002-4142-7153"} ! inherited

[Term]
id: MONDO:0015992
name: obsolete progressive cone dystrophy
is_obsolete: true
replaced_by: MONDO:0000455

[Term]
id: MONDO:0015993
name: cone-rod dystrophy
def: "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies." [Orphanet:1872]
subset: gard_rare {source="GARD:10790", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1872"}
subset: orphanet_rare {source="Orphanet:1872"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cone rod dystrophy" RELATED [Orphanet:1872]
synonym: "cone-rod retinal dystrophy" EXACT [DOID:0050572]
synonym: "CRD" EXACT ABBREVIATION [Orphanet:1872]
xref: DOID:0050572 {source="MONDO:equivalentTo"}
xref: GARD:10790 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:1872/attributed", source="Orphanet:1872/ntbt", source="DOID:0050572", source="MONDO:relatedTo", source="Orphanet:1872"}
xref: MEDGEN:896366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000071700 {source="MONDO:equivalentTo"}
xref: NANDO:1200937 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:120970 {source="MONDO:equivalentTo"}
xref: Orphanet:1872 {source="DOID:0050572", source="MONDO:equivalentTo"}
xref: UMLS:C4085590 {source="MEDGEN:896366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="DOID:0050572", source="MONDO:Redundant", source="MONDO:indirect"} ! retinal degeneration
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:120970"} ! inherited

[Term]
id: MONDO:0015994
name: muscular dystrophy-white matter spongiosis syndrome
subset: gard_rare {source="GARD:3854", source="MONDO:GARD"}
subset: rare
synonym: "Atrophie blanche" RELATED [GARD:0003854]
synonym: "muscular dystrophy white matter spongiosis" RELATED [GARD:0003854]
xref: GARD:3854 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:1877", source="Orphanet:1877/attributed", source="Orphanet:1877/ntbt"}
xref: Orphanet:1877 {source="GARD:0003854", source="MONDO:equivalentObsolete"}
is_a: MONDO:0020120 {source="Orphanet:1877", source="Orphanet:1877/inferred"} ! skeletal muscle disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis" xsd:anyURI {source="GARD:0003854"}

[Term]
id: MONDO:0015995
name: melorheostosis with osteopoikilosis
def: "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." [Orphanet:1879]
subset: gard_rare {source="GARD:3690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1879"}
subset: ordo_malformation_syndrome {source="Orphanet:1879"}
subset: orphanet_rare {source="Orphanet:1879"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystrophy osseous sclerosing mixed" RELATED [GARD:0003800]
synonym: "mixed sclerosing bone dystrophy" EXACT [Orphanet:1879]
synonym: "MSBD syndrome" EXACT [Orphanet:1879]
xref: GARD:3690 {source="MONDO:GARD"}
xref: ICD10CM:M85.8 {source="Orphanet:1879", source="Orphanet:1879/attributed", source="Orphanet:1879/ntbt"}
xref: MEDGEN:461045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563593 {source="MONDO:equivalentTo"}
xref: Orphanet:1879 {source="MONDO:equivalentTo"}
xref: UMLS:C3149695 {source="MEDGEN:461045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 {source="https://orcid.org/0000-0002-4142-7153"} ! bone disorder
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia

[Term]
id: MONDO:0015996
name: obsolete systemic capillary leak syndrome
is_obsolete: true
replaced_by: MONDO:0001956

[Term]
id: MONDO:0015997
name: ectopia lentis-chorioretinal dystrophy-myopia syndrome
def: "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive." [Orphanet:1884]
subset: gard_rare {source="GARD:3999", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1884"}
subset: orphanet_rare {source="Orphanet:1884"}
subset: rare
synonym: "ectopia lentis chorioretinal dystrophy myopia" RELATED [GARD:0003999]
synonym: "noble Bass Sherman syndrome" RELATED [GARD:0003999]
synonym: "noble-Bass-Sherman syndrome" EXACT [Orphanet:1884]
xref: GARD:3999 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:1884/attributed", source="Orphanet:1884/ntbt", source="Orphanet:1884"}
xref: MEDGEN:419715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536124 {source="MONDO:equivalentTo"}
xref: Orphanet:1884 {source="MONDO:equivalentTo"}
xref: SCTID:722437006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931115 {source="MEDGEN:419715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001176 ! lens disorder
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019118 {source="Orphanet:1884"} ! inherited retinal dystrophy

[Term]
id: MONDO:0015998
name: isolated ectopia lentis
def: "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." [Orphanet:1885]
subset: gard_rare {source="GARD:12251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1885"}
subset: ordo_malformation_syndrome {source="Orphanet:1885"}
subset: orphanet_rare {source="Orphanet:1885"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ectopic lens" RELATED [NCIT:C34566]
synonym: "ectopia lentis syndrome" EXACT [Orphanet:1885]
synonym: "familial ectopia lentis" EXACT [DOID:0111148, Orphanet:1885]
synonym: "IEL" EXACT ABBREVIATION [DOID:0111148]
synonym: "isolated lens position anomaly" EXACT []
synonym: "nonsyndromic lens position anomaly" EXACT [MONDO:patterns/isolated]
xref: DOID:0111148 {source="MONDO:equivalentTo"}
xref: GARD:12251 {source="MONDO:GARD"}
xref: ICD10CM:Q12.1 {source="Orphanet:1885", source="Orphanet:1885/specific", source="Orphanet:1885/e", source="DOID:0111148"}
xref: MedDRA:10014145 {source="Orphanet:1885", source="Orphanet:1885/e"}
xref: MEDGEN:342716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536184 {source="MONDO:equivalentTo", source="Orphanet:1885", source="Orphanet:1885/e"}
xref: MESH:D004479 {source="Orphanet:1885", source="Orphanet:1885/e"}
xref: NCIT:C125484 {source="DOID:0111148"}
xref: NCIT:C34566 {source="MONDO:equivalentTo", source="DOID:0111148"}
xref: Orphanet:1885 {source="MONDO:equivalentTo", source="DOID:0111148"}
xref: PMID:20141359 {source="DOID:0111148"}
xref: SCTID:204136005 {source="DOID:0111148"}
xref: SCTID:231976001 {source="DOID:0111148"}
xref: SCTID:74969002 {source="MONDO:equivalentTo", source="DOID:0111148"}
xref: UMLS:C1851286 {source="MEDGEN:342716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001176 {source="DOID:0111148", source="MESH:C536184/inferred", source="NCIT:C34566/inferred"} ! lens disorder
is_a: MONDO:0005328 ! eye disorder
relationship: excluded_subClassOf MONDO:0017310 {source="Orphanet:1885", source="https://orcid.org/0000-0001-5208-3432"} ! Marfan and Marfan-related disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis" xsd:anyURI {source="GARD:0012251"}

[Term]
id: MONDO:0015999
name: primary pigmented nodular adrenocortical disease
def: "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." [Orphanet:189439]
subset: gard_rare {source="GARD:10906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pigmented nodular adrenocortical disease" EXACT [MONDO:0000084]
synonym: "pigmented nodular adrenocortical disease, primary" EXACT [OMIMPS:610489]
synonym: "PPNAD" EXACT ABBREVIATION [Orphanet:189439]
synonym: "primary pigmented nodular adrenal dysplasia" EXACT [NCIT:C131196]
xref: DOID:0060280 {source="MONDO:equivalentTo"}
xref: GARD:10906 {source="MONDO:GARD"}
xref: ICD10CM:E24.8 {source="Orphanet:189439/attributed", source="Orphanet:189439/ntbt", source="Orphanet:189439"}
xref: MEDGEN:930501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566469 {source="DOID:0060280"}
xref: MESH:C566472 {source="DOID:0060280"}
xref: NCIT:C131196 {source="MONDO:equivalentTo"}
xref: OMIMPS:610489 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:189439 {source="MONDO:equivalentTo", source="DOID:0060280"}
xref: SCTID:719274008 {source="MONDO:equivalentTo"}
xref: UMLS:C4304832 {source="MEDGEN:930501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:189439"} ! adrenal gland disorder
relationship: excluded_subClassOf MONDO:0020529 {source="Orphanet:189439", source="https://orcid.org/0000-0001-5208-3432"} ! ACTH-independent Cushing syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610489"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease" xsd:anyURI {source="GARD:0010906"}

[Term]
id: MONDO:0016000
name: familial isolated hypoparathyroidism due to impaired PTH secretion
subset: gard_rare {source="GARD:17088", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:189466"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17088 {source="MONDO:GARD"}
xref: ICD10CM:E20.8 {source="Orphanet:189466/attributed", source="Orphanet:189466/ntbt", source="Orphanet:189466"}
xref: MEDGEN:1843283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:189466 {source="MONDO:equivalentTo"}
xref: UMLS:C5680524 {source="MEDGEN:1843283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007796 ! hypoparathyroidism, familial isolated 1
relationship: disease_has_basis_in_disruption_of GO:0035898 ! parathyroid hormone secretion

[Term]
id: MONDO:0016001
name: 2-hydroxyglutaric aciduria
def: "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." [Orphanet:19]
subset: disease_grouping
subset: gard_rare {source="GARD:10761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:19"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2-HGA" RELATED [MESH:C535306]
synonym: "2-hydroxyglutaric acidemia" EXACT [Orphanet:19]
synonym: "2-hydroxyglutaric aciduria" EXACT [MESH:C535306]
xref: DOID:0050573 {source="MONDO:equivalentTo"}
xref: GARD:10761 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:19/attributed", source="Orphanet:19/ntbt", source="Orphanet:19"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:412535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535306 {source="MONDO:equivalentTo"}
xref: NCIT:C128187 {source="MONDO:equivalentTo"}
xref: Orphanet:19 {source="MONDO:equivalentTo"}
xref: SCTID:698870008 {source="MONDO:equivalentTo"}
xref: UMLS:C2746066 {source="MEDGEN:412535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0019052 {source="DOID:0050573/inferred", source="MESH:C535306/inferred", source="MONDO:Redundant", source="NCIT:C128187", source="Orphanet:19/inferred"} ! inborn errors of metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria" xsd:anyURI {source="GARD:0010761"}

[Term]
id: MONDO:0016002
name: Ehlers-Danlos syndrome, kyphoscoliotic type 1
def: "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." [Orphanet:1900]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:22216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1900"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS 6" EXACT [OMIM:225400]
synonym: "EDS 6 (formerly)" RELATED [GARD:0002083]
synonym: "EDS VI" RELATED [MESH:C536198]
synonym: "EDS VIA" NARROW [Orphanet:1900]
synonym: "EDS, kyphoscoliotic type" EXACT [Orphanet:1900]
synonym: "EDS, oculoscoliotic type" EXACT [Orphanet:1900]
synonym: "EDS6" EXACT ABBREVIATION [MESH:C536198, MONDO:Lexical, OMIM:225400]
synonym: "EDS6A, formerly" RELATED [MESH:C536198]
synonym: "EDSKSCL1" RELATED ABBREVIATION [OMIM:225400]
synonym: "Ehlers-Danlos syndrome kyphoscoliotic type" EXACT []
synonym: "Ehlers-Danlos syndrome oculoscoliotic type" RELATED [GARD:0002083]
synonym: "Ehlers-Danlos syndrome type 6 (formerly)" RELATED [GARD:0002083]
synonym: "Ehlers-Danlos syndrome type 6A" NARROW [Orphanet:1900]
synonym: "Ehlers-Danlos syndrome type 6A (formerly)" RELATED [GARD:0002083]
synonym: "Ehlers-Danlos syndrome, kyphoscoliosis type" RELATED [GARD:0002083]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type" EXACT [MESH:C536198, OMIM:225400]
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type 1" EXACT CLINGEN_LABEL []
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 1" RELATED [OMIM:225400]
synonym: "Ehlers-Danlos syndrome, ocular-scoliotic type" RELATED [MESH:C536198, OMIM:225400]
synonym: "Ehlers-Danlos syndrome, oculoscoliotic type" EXACT [Orphanet:1900]
synonym: "Ehlers-Danlos syndrome, type 6" EXACT [MESH:C536198, MONDO:0009160]
synonym: "Ehlers-Danlos syndrome, type 6 A" RELATED [MESH:C536198]
synonym: "Ehlers-Danlos syndrome, type VI" RELATED [MESH:C536198, MONDO:Lexical, OMIM:225400]
synonym: "Ehlers-Danlos syndrome, type VIA" NARROW [MESH:C536198]
synonym: "Ehlers-Danlos syndrome, type Via" NARROW [OMIM:225400]
synonym: "Ehlers-Danlos syndrome, type VIA, formerly" NARROW [MESH:C536198]
synonym: "Ehlers-Danlos syndrome, type Via, formerly" NARROW [OMIM:225400]
synonym: "kEDS" RELATED [GARD:0002083]
synonym: "kyphoscoliotic EDS" RELATED [GARD:0002083]
synonym: "kyphoscoliotic Ehlers-Danlos syndrome" RELATED [GARD:0002083]
synonym: "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency" EXACT [Orphanet:1900]
synonym: "nevo syndrome" EXACT DEPRECATED [MESH:C536198, OMIM:225400, PMID:19760654]
xref: DOID:0080734 {source="MONDO:equivalentTo"}
xref: GARD:22216 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:1900/attributed", source="Orphanet:1900/ntbt", source="Orphanet:1900"}
xref: MEDGEN:75672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536198 {source="MONDO:equivalentTo"}
xref: NANDO:1200649 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201259 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125700 {source="MONDO:equivalentTo"}
xref: OMIM:225400 {source="Orphanet:1900/e", source="MONDO:equivalentTo", source="Orphanet:1900"}
xref: Orphanet:1900 {source="MONDO:equivalentTo", source="OMIM:225400"}
xref: SCTID:718211004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75672"}
is_a: MONDO:0002254 {source="MONDO:0016002/inferred", source="MONDO:Redundant", source="NCIT:C125700/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003900 ! connective tissue disorder
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0020066 {source="DC-OMIM:225400", source="MESH:C536198", source="NCIT:C125700", source="OMIM:225400", source="Orphanet:1900"} ! Ehlers-Danlos syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225400", source="Orphanet:1900"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9081 {source="MONDO:mim2gene_medgen"} ! PLOD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4220" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4918" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0016003
name: ehrlichiosis
def: "An disease or disorder caused by infection with Ehrlichia." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="GARD:2092", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1902"}
subset: orphanet_rare {source="Orphanet:1902"}
subset: rare
synonym: "human ehrlichiosis" EXACT [DOID:10242]
xref: DOID:10242 {source="MONDO:equivalentTo"}
xref: GARD:2092 {source="MONDO:GARD"}
xref: ICD10CM:A48.8 {source="Orphanet:1902/ntbt", source="Orphanet:1902"}
xref: ICD10CM:A77.4 {source="DOID:10242"}
xref: ICD10CM:A77.40 {source="DOID:10242"}
xref: ICD9:082.4 {source="DOID:10242"}
xref: ICD9:082.40 {source="DOID:10242"}
xref: MEDGEN:39039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016873 {source="Orphanet:1902/e", source="MONDO:equivalentTo", source="DOID:10242", source="Orphanet:1902"}
xref: Orphanet:1902 {source="MONDO:equivalentTo"}
xref: SCTID:240626005 {source="MONDO:equivalentTo"}
xref: SCTID:77361002 {source="DOID:10242"}
xref: UMLS:C0085399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39039"}
is_a: MONDO:0000314 {source="DOID:10242"} ! primary bacterial infectious disease
is_a: MONDO:0006956 {source="Orphanet:1902"} ! Rickettsiosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:943 ! disease has primary infectious agent Ehrlichia
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough
relationship: transmitted_by NCBITaxon:6944 ! Ixodes

[Term]
id: MONDO:0016004
name: aminopterin/methotrexate embryofetopathy
def: "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy." [Orphanet:1908]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1908"}
subset: ordo_malformation_syndrome {source="Orphanet:1908"}
subset: orphanet_rare {source="Orphanet:1908"}
subset: rare
synonym: "aminopterin embryopathy syndrome" EXACT [GARD:0002294, Orphanet:1908]
synonym: "aminopterin fetopathy syndrome" RELATED [GARD:0002294]
synonym: "aminopterin syndrome" RELATED [GARD:0002294]
synonym: "fetal aminopterin syndrome" EXACT [Orphanet:1908]
synonym: "fetal methotrexate syndrome" RELATED [GARD:0002294]
synonym: "foetal aminopterin syndrome" EXACT OMO:0003005 []
synonym: "foetal methotrexate syndrome" RELATED OMO:0003005 []
xref: ICD10CM:Q86.8 {source="Orphanet:1908/ntbt", source="Orphanet:1908"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071183 {source="Orphanet:1908", source="Orphanet:1908/e"}
xref: MEDGEN:98491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98928 {source="MONDO:equivalentTo"}
xref: Orphanet:1908 {source="MONDO:equivalentTo"}
xref: SCTID:65986000 {source="MONDO:equivalentTo"}
xref: UMLS:C0432367 {source="MONDO:equivalentTo", source="MEDGEN:98491", source="MONDO:MEDGEN"}
is_a: MONDO:0016677 {source="Orphanet:1908"} ! toxic or drug-related embryofetopathy

[Term]
id: MONDO:0016005
name: indomethacin embryofetopathy
def: "Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants." [Orphanet:1909]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1909"}
subset: ordo_malformation_syndrome {source="Orphanet:1909"}
subset: orphanet_rare {source="Orphanet:1909"}
subset: rare
synonym: "antenatal indomethacin exposure" RELATED [GARD:0002994]
synonym: "fetal indomethacin syndrome" EXACT [Orphanet:1909]
synonym: "foetal indomethacin syndrome" EXACT OMO:0003005 []
xref: ICD10CM:Q86.8 {source="Orphanet:1909", source="Orphanet:1909/ntbt"}
xref: MEDGEN:903069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1909 {source="MONDO:equivalentTo"}
xref: SCTID:715430001 {source="MONDO:equivalentTo"}
xref: UMLS:C4275138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903069"}
is_a: MONDO:0016677 {source="Orphanet:1909"} ! toxic or drug-related embryofetopathy

[Term]
id: MONDO:0016006
name: Cockayne syndrome
def: "A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." [https://orcid.org/0000-0001-5208-3432, Orphanet:191]
subset: gard_rare {source="GARD:6122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:982"}
subset: ordo_disorder {source="Orphanet:191"}
subset: orphanet_rare {source="Orphanet:191"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cockayne's syndrome" RELATED [DOID:2962]
synonym: "dwarfism-retinal atrophy-deafness syndrome" RELATED [GARD:0006122]
synonym: "Neill-Dingwall syndrome" EXACT [DOID:2962]
synonym: "progeria-like syndrome" RELATED [GARD:0006122]
synonym: "progeroid nanism" RELATED [GARD:0006122]
xref: DOID:2962 {source="MONDO:equivalentTo"}
xref: GARD:6122 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:191/ntbt", source="Orphanet:191/inclusion", source="Orphanet:191", source="DOID:2962"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10009835 {source="Orphanet:191", source="Orphanet:191/e"}
xref: MEDGEN:40363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003057 {source="Orphanet:191", source="MONDO:equivalentTo", source="DOID:2962", source="Orphanet:191/e"}
xref: NANDO:1200677 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200832 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9460 {source="MONDO:equivalentTo", source="DOID:2962"}
xref: NORD:982 {source="MONDO:NORD"}
xref: Orphanet:191 {source="MONDO:equivalentTo", source="DOID:2962"}
xref: Orphanet:90321 {source="DOID:2962"}
xref: Orphanet:90322 {source="DOID:2962"}
xref: Orphanet:90324 {source="DOID:2962"}
xref: SCTID:205832003 {source="DOID:2962"}
xref: SCTID:21086008 {source="MONDO:equivalentTo", source="DOID:2962"}
xref: UMLS:C0009207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40363"}
is_a: MONDO:0015333 {source="Orphanet:191", source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! progeroid syndrome
relationship: disease_has_basis_in_disruption_of GO:0006289 {source="https://orcid.org/0000-0002-6601-2165"} ! nucleotide-excision repair
relationship: disease_has_feature HP:0000992 ! Cutaneous photosensitivity
relationship: disease_has_feature HP:0001510 ! Growth delay
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:191", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C9460", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0003847 {source="DOID:2962/inferred", source="MESH:D003057/inferred", source="MONDO:Redundant", source="NCIT:C9460", source="Orphanet:191/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0006025 {source="DOID:2962", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive disease
relationship: excluded_subClassOf MONDO:0015951 {source="https://dermnetnz.org/topics/photosensitivity/", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary photodermatosis
relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:191", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:191", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss
relationship: excluded_subClassOf MONDO:0020240 {source="Orphanet:191", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic retinitis pigmentosa
relationship: excluded_subClassOf MONDO:0021190 {source="MESH:D003057", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! DNA repair disease
relationship: excluded_subClassOf MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:191", source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_characteristic HP:0000007 {source="Orphanet:191"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6023" xsd:anyURI

[Term]
id: MONDO:0016007
name: cocaine embryofetopathy
def: "A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring." [Orphanet:1911]
subset: gard_rare {source="GARD:1413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1911"}
subset: ordo_malformation_syndrome {source="Orphanet:1911"}
subset: orphanet_rare {source="Orphanet:1911"}
subset: rare
synonym: "cocaine antenatal exposure" RELATED [GARD:0001413]
synonym: "cocaine fetopathy" RELATED [GARD:0001413]
synonym: "fetal cocaine syndrome" EXACT [GARD:0001413, Orphanet:1911]
synonym: "foetal cocaine syndrome" EXACT OMO:0003005 []
synonym: "prenatal cocaine exposure" RELATED [GARD:0001413]
xref: GARD:1413 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:1911/ntbt", source="Orphanet:1911"}
xref: ICD9:760.75 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1911 {source="MONDO:equivalentTo"}
xref: SCTID:254250002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432371 {source="MEDGEN:140937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016677 {source="Orphanet:1911"} ! toxic or drug-related embryofetopathy
relationship: realized_in_response_to_stimulus CHEBI:27958 ! cocaine

[Term]
id: MONDO:0016008
name: fetal hydantoin syndrome
def: "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported." [Orphanet:1912]
subset: gard_rare {source="GARD:6435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1139"}
subset: ordo_disorder {source="Orphanet:1912"}
subset: ordo_malformation_syndrome {source="Orphanet:1912"}
subset: orphanet_rare {source="Orphanet:1912"}
subset: rare
synonym: "Dilantin embryopathy" RELATED [GARD:0006435]
synonym: "fetal dihydantoin syndrome" EXACT [Orphanet:1912]
synonym: "FHS" EXACT [OMIM:617955]
synonym: "foetal dihydantoin syndrome" EXACT OMO:0003005 []
synonym: "phenytoin embryofetopathy" EXACT [Orphanet:1912]
synonym: "phenytoin embryopathy" RELATED [GARD:0006435]
xref: GARD:6435 {source="MONDO:GARD"}
xref: ICD10CM:Q86.1 {source="Orphanet:1912/e", source="MONDO:equivalentTo", source="Orphanet:1912"}
xref: icd11.foundation:1894344911 {source="MONDO:equivalentTo", source="Orphanet:1912"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10016508 {source="Orphanet:1912/e", source="Orphanet:1912"}
xref: MEDGEN:75569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537922 {source="Orphanet:1912/e", source="MONDO:equivalentTo", source="Orphanet:1912"}
xref: NCIT:C98927 {source="MONDO:equivalentTo"}
xref: NORD:1139 {source="MONDO:NORD"}
xref: OMIM:617955 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:1912 {source="MONDO:equivalentTo"}
xref: SCTID:70065001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265372 {source="MEDGEN:75569", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C98927"} ! syndromic disease
is_a: MONDO:0016677 {source="https://orcid.org/0000-0002-4142-7153"} ! toxic or drug-related embryofetopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome" xsd:anyURI {source="GARD:0006435"}

[Term]
id: MONDO:0016009
name: fetal trimethadione syndrome
def: "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects." [Orphanet:1913]
subset: gard_rare {source="GARD:18750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1913"}
subset: ordo_malformation_syndrome {source="Orphanet:1913"}
subset: orphanet_rare {source="Orphanet:1913"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18750 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:1913/ntbt", source="Orphanet:1913"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537798 {source="Orphanet:1913/e", source="MONDO:equivalentTo", source="Orphanet:1913"}
xref: Orphanet:1913 {source="MONDO:equivalentTo"}
xref: SCTID:66351003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265373 {source="MEDGEN:120538", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016677 {source="https://orcid.org/0000-0002-4142-7153"} ! toxic or drug-related embryofetopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016010
name: vitamin K-antagonist embryofetopathy
def: "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly." [NCIT:C98906]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1914"}
subset: ordo_malformation_syndrome {source="Orphanet:1914"}
subset: orphanet_rare {source="Orphanet:1914"}
subset: rare
synonym: "congenital warfarin syndrome" RELATED [GARD:0008580]
synonym: "coumarin embryopathy" RELATED [GARD:0008580]
synonym: "coumarin syndrome" RELATED [GARD:0008580]
synonym: "di Sala syndrome" EXACT [Orphanet:1914]
synonym: "DiSala syndrome" RELATED [GARD:0008580]
synonym: "embryofetopathy due to oral anticoagulant therapy" RELATED [GARD:0008580]
synonym: "fetal anticoagulant syndrome" RELATED [GARD:0008580]
synonym: "fetal Coumadin syndrome" EXACT [NCIT:C98906]
synonym: "fetal warfarin syndrome" EXACT [NCIT:C98906]
synonym: "foetal anticoagulant syndrome" RELATED OMO:0003005 []
synonym: "foetal Coumadin syndrome" EXACT OMO:0003005 []
synonym: "foetal warfarin syndrome" EXACT OMO:0003005 []
synonym: "vitamin K antagonist embryofetopathy" RELATED [Orphanet:1914]
synonym: "vitamin K antagonist embryopathy" EXACT [Orphanet:1914]
synonym: "vitamin K antagonists embryofetopathy" RELATED [GARD:0008580]
synonym: "vitamin K-antagonist embryofetopathy" EXACT [GARD:0008580]
synonym: "vitamin K-antagonist embryopathy" EXACT [Orphanet:1914]
synonym: "warfarin embryofetopathy" EXACT [GARD:0008580, Orphanet:1914]
synonym: "warfarin embryopathy" EXACT [GARD:0008580, Orphanet:1914]
synonym: "warfarin syndrome" RELATED [GARD:0008580]
xref: ICD10CM:Q86.2 {source="Orphanet:1914/ntbt", source="Orphanet:1914"}
xref: icd11.foundation:71579696 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:1914"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10051445 {source="Orphanet:1914/e", source="Orphanet:1914"}
xref: MEDGEN:75570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536683 {source="MONDO:equivalentTo"}
xref: NCIT:C98906 {source="MONDO:equivalentTo"}
xref: Orphanet:1914 {source="MONDO:equivalentTo", source="GARD:0008580"}
xref: SCTID:38323006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75570"}
is_a: MONDO:0002254 {source="NCIT:C98906", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0016677 {source="MESH:C536683", source="Orphanet:1914"} ! toxic or drug-related embryofetopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8580/warfarin-syndrome" xsd:anyURI {source="GARD:0008580"}

[Term]
id: MONDO:0016011
name: fetal alcohol syndrome
def: "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)." [Orphanet:1915]
subset: gard_rare {source="GARD:599", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1915"}
subset: ordo_malformation_syndrome {source="Orphanet:1915"}
subset: orphanet_rare {source="Orphanet:1915"}
subset: rare
synonym: "alcohol-related birth defects" RELATED [Orphanet:1915]
synonym: "alcohol-related neurodevelopmental disorder" EXACT [MONDO:0000394, Orphanet:1915]
synonym: "ARBD" EXACT ABBREVIATION [Orphanet:1915]
synonym: "ARND" EXACT ABBREVIATION [DOID:0050667, Orphanet:1915]
synonym: "FAS" EXACT ABBREVIATION [Orphanet:1915]
synonym: "FASD" BROAD ABBREVIATION [Orphanet:1915]
synonym: "fetal alcohol spectrum disorders" BROAD [Orphanet:1915]
synonym: "foetal alcohol spectrum disorders" BROAD OMO:0003005 []
synonym: "static encephalopathy" RELATED [DOID:0050667]
xref: DOID:0050665 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0050667 {source="MONDO:equivalentTo"}
xref: GARD:599 {source="MONDO:GARD"}
xref: ICD10CM:Q86.0 {source="Orphanet:1915/e", source="Orphanet:1915"}
xref: icd11.foundation:362980699 {source="MONDO:equivalentTo", source="Orphanet:1915"}
xref: MedDRA:10016845 {source="Orphanet:1915/e", source="Orphanet:1915"}
xref: MEDGEN:8820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005310 {source="Orphanet:1915/e", source="Orphanet:1915"}
xref: NCIT:C84713 {source="MONDO:equivalentTo"}
xref: Orphanet:1915 {source="MONDO:equivalentTo"}
xref: SCTID:205788004 {source="MONDO:equivalentTo"}
xref: UMLS:C0015923 {source="MEDGEN:8820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000408 {source="DOID:0050665", source="DOID:0050667"} ! fetal alcohol spectrum disorder
is_a: MONDO:0002254 {source="NCIT:C84713"} ! syndromic disease
is_a: MONDO:0016677 {source="Orphanet:1915"} ! toxic or drug-related embryofetopathy

[Term]
id: MONDO:0016012
name: diethylstilbestrol syndrome
def: "Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage." [Orphanet:1916]
subset: gard_rare {source="GARD:1859", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1916"}
subset: orphanet_rare {source="Orphanet:1916"}
subset: rare
synonym: "antenatal diethylstilbestrol exposure" RELATED [GARD:0001859]
synonym: "DES embryofetopathy" EXACT [Orphanet:1916]
synonym: "DES syndrome" EXACT [Orphanet:1916]
synonym: "diethylstilbestrol embryofetopathy" EXACT [Orphanet:1916]
synonym: "Distilbene embryofetopathy" EXACT [Orphanet:1916]
synonym: "fetal diethylstilbestrol syndrome" RELATED [GARD:0001859]
synonym: "foetal diethylstilbestrol syndrome" RELATED OMO:0003005 []
xref: GARD:1859 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:1916/ntbt", source="Orphanet:1916"}
xref: icd11.foundation:1134098724 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:1916"}
xref: MedDRA:10012780 {source="Orphanet:1916/e", source="Orphanet:1916"}
xref: MEDGEN:799290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C113422 {source="MONDO:equivalentTo"}
xref: Orphanet:1916 {source="MONDO:equivalentTo"}
xref: SCTID:716005004 {source="MONDO:equivalentTo"}
xref: UMLS:C0853695 {source="MEDGEN:799290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0016677 {source="Orphanet:1916"} ! toxic or drug-related embryofetopathy
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome" xsd:anyURI {source="GARD:0001859"}

[Term]
id: MONDO:0016013
name: fetal methylmercury syndrome
def: "Foetal methylmercury syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury." [Orphanet:1917]
subset: gard_rare {source="GARD:3575", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1917"}
subset: ordo_malformation_syndrome {source="Orphanet:1917"}
subset: orphanet_rare {source="Orphanet:1917"}
subset: rare
synonym: "Methyl mercury antenatal exposure" RELATED [GARD:0003575]
synonym: "Methyl mercury antenatal infection" EXACT [Orphanet:1917]
synonym: "Minamata disease" RELATED [Orphanet:1917]
xref: GARD:3575 {source="MONDO:GARD"}
xref: ICD10CM:T56.1 {source="Orphanet:1917", source="Orphanet:1917/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020262 {source="MONDO:equivalentTo"}
xref: Orphanet:1917 {source="MONDO:equivalentTo"}
xref: SCTID:62110005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265376 {source="MEDGEN:82710", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016677 {source="Orphanet:1917"} ! toxic or drug-related embryofetopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome" xsd:anyURI {source="GARD:0003575"}

[Term]
id: MONDO:0016014
name: fetal minoxidil syndrome
def: "Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available." [Orphanet:1918]
subset: gard_rare {source="GARD:2308", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1918"}
subset: ordo_malformation_syndrome {source="Orphanet:1918"}
subset: orphanet_rare {source="Orphanet:1918"}
subset: rare
synonym: "minoxidil antenatal exposure" RELATED [GARD:0002308]
synonym: "minoxidil antenatal infection" EXACT [Orphanet:1918]
xref: GARD:2308 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:1918", source="Orphanet:1918/ntbt"}
xref: ICD9:760.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1918 {source="MONDO:equivalentTo"}
xref: SCTID:254251003 {source="MONDO:equivalentTo"}
xref: UMLS:C0432373 {source="MEDGEN:96601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016677 {source="Orphanet:1918"} ! toxic or drug-related embryofetopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome" xsd:anyURI {source="GARD:0002308"}

[Term]
id: MONDO:0016015
name: phenobarbital embryopathy
def: "A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, ﬁnger hypoplasia, brachydactyly and hypospadias have been reported in rare cases." [Orphanet:1919]
subset: gard_rare {source="GARD:4315", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1919"}
subset: ordo_malformation_syndrome {source="Orphanet:1919"}
subset: orphanet_rare {source="Orphanet:1919"}
subset: rare
synonym: "phenobarbital antenatal exposure" RELATED [GARD:0004315]
xref: GARD:4315 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:1919/ntbt", source="Orphanet:1919"}
xref: MEDGEN:895102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1919 {source="MONDO:equivalentTo"}
xref: SCTID:715431002 {source="MONDO:equivalentTo"}
xref: UMLS:C4275281 {source="MEDGEN:895102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016677 {source="https://orcid.org/0000-0002-4142-7153"} ! toxic or drug-related embryofetopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016016
name: toluene embryopathy
def: "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome." [Orphanet:1920]
subset: gard_rare {source="GARD:18751", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1920"}
subset: ordo_malformation_syndrome {source="Orphanet:1920"}
subset: orphanet_rare {source="Orphanet:1920"}
subset: rare
synonym: "Hersh Podruch Weisskopk syndrome" RELATED [MESH:C538114]
synonym: "microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency" RELATED [GARD:0002672]
synonym: "toluene embryopathy" EXACT [GARD:0002672, MESH:C538114]
xref: GARD:18751 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:1920", source="Orphanet:1920/ntbt"}
xref: MEDGEN:444131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538114 {source="MONDO:equivalentTo", source="UMLS:C2931737"}
xref: Orphanet:1920 {source="MONDO:equivalentTo"}
xref: UMLS:C2931737 {source="MEDGEN:444131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016677 {source="Orphanet:1920"} ! toxic or drug-related embryofetopathy
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0016017
name: methimazole embryofetopathy
def: "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia." [Orphanet:1923]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1923"}
subset: ordo_malformation_syndrome {source="Orphanet:1923"}
subset: orphanet_rare {source="Orphanet:1923"}
subset: rare
synonym: "fetal methimazole syndrome" RELATED [GARD:0003573]
synonym: "foetal methimazole syndrome" RELATED OMO:0003005 []
synonym: "Methimazole antenatal exposure" RELATED [GARD:0003573]
synonym: "methimazole embryofetopathy" EXACT [GARD:0003573]
synonym: "Methimazole/carbimazole embryofetopathy" EXACT [GARD:0003573, Orphanet:1923]
synonym: "Methimazole/carbimazole embryopathy" EXACT [GARD:0003573, Orphanet:1923]
synonym: "MMI/CMZ embryofetopathy" EXACT [Orphanet:1923]
synonym: "MMI/CMZ embryopathy" EXACT [Orphanet:1923]
xref: ICD10CM:Q86.8 {source="Orphanet:1923", source="Orphanet:1923/ntbt"}
xref: MEDGEN:1388574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1923 {source="MONDO:equivalentTo", source="GARD:0003573"}
xref: SCTID:724144006 {source="MONDO:equivalentTo"}
xref: UMLS:C4510379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388574"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0016677 {source="Orphanet:1923"} ! toxic or drug-related embryofetopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure" xsd:anyURI {source="GARD:0003573"}

[Term]
id: MONDO:0016018
name: diabetic embryopathy
def: "Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother." [Orphanet:1926]
subset: gard_rare {source="GARD:16580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1926"}
subset: ordo_malformation_syndrome {source="Orphanet:1926"}
subset: orphanet_rare {source="Orphanet:1926"}
subset: rare
xref: GARD:16580 {source="MONDO:GARD"}
xref: ICD10CM:P00.4 {source="Orphanet:1926/btnt", source="Orphanet:1926"}
xref: MEDGEN:823266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C113485 {source="MONDO:equivalentTo"}
xref: Orphanet:1926 {source="MONDO:equivalentTo"}
xref: SCTID:716020005 {source="MONDO:equivalentTo"}
xref: UMLS:C3830518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:823266"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015323 {source="Orphanet:1926", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete teratogenic Pierre Robin syndrome
relationship: excluded_subClassOf MONDO:0016330 {source="Orphanet:1926", source="https://orcid.org/0000-0001-5208-3432"} ! non-familial hypertrophic cardiomyopathy
relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:1926", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016019
name: Rasmussen subacute encephalitis
def: "A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia." [NCIT:C125384]
subset: gard_rare {source="GARD:18752", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1649", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1929"}
subset: orphanet_rare {source="Orphanet:1929"}
subset: rare
synonym: "CFE" EXACT ABBREVIATION [NCIT:C125384]
synonym: "chronic focal encephalitis" EXACT [NCIT:C125384]
synonym: "Rasmussen Encephalitis" EXACT [NORD:1649]
synonym: "Rasmussen encephalitis" EXACT [NCIT:C125384, NORD:1649]
synonym: "Rasmussen syndrome" EXACT [Orphanet:1929]
synonym: "RE" RELATED ABBREVIATION [GARD:0007527]
xref: GARD:18752 {source="MONDO:GARD"}
xref: ICD10CM:G04.8 {source="Orphanet:1929", source="Orphanet:1929/ntbt"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:418934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535291 {source="Orphanet:1929", source="MONDO:equivalentTo", source="Orphanet:1929/e"}
xref: NANDO:1200598 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100246 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200900 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125384 {source="MONDO:equivalentTo"}
xref: NORD:1649 {source="MONDO:NORD"}
xref: Orphanet:1929 {source="MONDO:equivalentTo"}
xref: SCTID:230191005 {source="MONDO:equivalentTo"}
xref: UMLS:C2930868 {source="MEDGEN:418934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019956 {source="MESH:C535291", source="MONDO:Redundant", source="NCIT:C125384", source="Orphanet:1929/inferred"} ! encephalitis
is_a: MONDO:0020068 {source="Orphanet:1929"} ! postinfectious encephalitis
is_a: MONDO:0100028 {source="https://orcid.org/0000-0001-8486-0558"} ! immune epilepsy
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/rasmussen-overview.html" xsd:anyURI

[Term]
id: MONDO:0016020
name: frontal encephalocele
subset: gard_rare {source="GARD:18753", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:1931"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior encephalocele" EXACT [Orphanet:1931]
xref: GARD:18753 {source="MONDO:GARD"}
xref: ICD10CM:Q01.0 {source="MONDO:equivalentTo", source="Orphanet:1931/specific", source="Orphanet:1931", source="Orphanet:1931/e"}
xref: MEDGEN:98460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1931 {source="MONDO:equivalentTo"}
xref: SCTID:253103006 {source="MONDO:equivalentTo"}
xref: UMLS:C0431289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98460"}
is_a: MONDO:0016057 {source="Orphanet:1931"} ! isolated encephalocele

[Term]
id: MONDO:0016021
name: obsolete early infantile epileptic encephalopathy
comment: This term will be renamed to 'developmental epileptic encephalopathy' in OMIM.
subset: clingen {source="MONDO:CLINGEN"}
synonym: "obsolete early infantile epileptic encephalopathy" EXACT CLINGEN_LABEL []
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2027" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100062

[Term]
id: MONDO:0016022
name: early myoclonic encephalopathy
def: "Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern." [Orphanet:1935]
subset: gard_rare {source="GARD:16581", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:1935"}
subset: ordo_disorder {source="Orphanet:1935"}
subset: orphanet_rare {source="Orphanet:1935"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early myoclonic encephalopathy" EXACT [MONDO:0002506]
synonym: "early myoclonic encephalopathy with suppression-bursts" EXACT [Orphanet:1935]
synonym: "eme" EXACT [NCIT:C116593]
synonym: "epileptic seizures - myoclonic" EXACT [DOID:308]
synonym: "epileptic seizures, myoclonic" EXACT [DOID:308]
synonym: "myoclonia epileptica" EXACT [DOID:308]
synonym: "myoclonic epilepsy" EXACT [DOID:308]
synonym: "myoclonic seizure" EXACT [DOID:308]
synonym: "myoclonic seizure disorder" EXACT [DOID:308]
synonym: "myoclonus epilepsy" RELATED [GARD:0007142]
xref: DOID:308 {source="MONDO:equivalentTo"}
xref: GARD:16581 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:1935/e", source="Orphanet:1935/inclusion", source="Orphanet:1935"}
xref: MEDGEN:124373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004831 {source="DOID:308"}
xref: NANDO:1200594 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116593 {source="MONDO:equivalentTo"}
xref: Orphanet:1935 {source="MONDO:equivalentTo"}
xref: SCTID:192847001 {source="DOID:308"}
xref: SCTID:192992007 {source="DOID:308"}
xref: SCTID:37356005 {source="DOID:308"}
xref: SCTID:44423001 {source="MONDO:equivalentTo"}
xref: UMLS:C0270855 {source="MEDGEN:124373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000412 {source="DOID:308"} ! neonatal period electroclinical syndrome
is_a: MONDO:0005560 {source="DOID:308/inferred", source="EFO:1001900/inferred", source="NCIT:C116593"} ! brain disorder
is_a: MONDO:0016801 {source="Orphanet:1935"} ! mitochondrial substrate carrier disorder
is_a: MONDO:0100022 {source="Orphanet:1935", source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/eme-overview.html" xsd:anyURI

[Term]
id: MONDO:0016023
name: obsolete ocular coloboma
comment: Obsolete in Orphanet.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/391" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001476

[Term]
id: MONDO:0016024
name: shoulder and thorax deformity-congenital heart disease syndrome
subset: gard_rare {source="GARD:4859", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1940"}
subset: rare
xref: GARD:4859 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1940", source="Orphanet:1940/attributed", source="Orphanet:1940/ntbt"}
xref: Orphanet:1940 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015929 {source="Orphanet:1940"} ! thoracic malformation
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016025
name: myoclonic-astatic epilepsy
def: "Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." [Orphanet:1942]
subset: gard_rare {source="GARD:2169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1942"}
subset: orphanet_rare {source="Orphanet:1942"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Doose syndrome" EXACT [GARD:0002169, Orphanet:1942]
synonym: "EMAS" EXACT ABBREVIATION [Orphanet:1942]
synonym: "epilepsy with myoclonic-astatic seizures" EXACT [GARD:0002169, Orphanet:1942]
synonym: "epilepsy with myoclonic-atonic seizures" EXACT [Orphanet:1942]
synonym: "epilepsy with myoclono-astatic crisis" RELATED [GARD:0002169]
synonym: "mae" RELATED [Orphanet:1942]
synonym: "myoclonic astatic epilepsy" RELATED [GARD:0002169]
synonym: "myoclonic atonic epilepsy" EXACT [Orphanet:1942]
synonym: "myoclonic-astatic epilepsy in early childhood" EXACT [Orphanet:1942]
xref: GARD:2169 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:1942", source="Orphanet:1942/attributed", source="Orphanet:1942/ntbt"}
xref: icd11.foundation:951920505 {source="MONDO:equivalentTo", source="Orphanet:1942", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200590 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:1942 {source="GARD:0002169", source="MONDO:equivalentTo"}
xref: SCTID:230421008 {source="MONDO:equivalentTo"}
xref: UMLS:C0393702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98284"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
is_a: MONDO:0020072 {source="Orphanet:1942", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy" xsd:anyURI {source="GARD:0002169"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/mei-overview.html" xsd:anyURI

[Term]
id: MONDO:0016026
name: infant epilepsy with migrant focal crisis
def: "An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown." [Orphanet:1943]
subset: gard_rare {source="GARD:2995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1943"}
subset: orphanet_rare {source="Orphanet:1943"}
subset: rare
xref: GARD:2995 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:1943", source="Orphanet:1943/ntbt"}
xref: MEDGEN:1390817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1943 {source="MONDO:equivalentTo"}
xref: SCTID:724274009 {source="MONDO:equivalentTo"}
xref: UMLS:C4510564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1390817"}
is_a: MONDO:0020071 {source="Orphanet:1943"} ! infantile epilepsy syndrome
relationship: has_characteristic HP:0003593 {source="Orphanet:1943"} ! Infantile onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2995/infant-epilepsy-with-migrant-focal-crisis" xsd:anyURI {source="GARD:0002995"}

[Term]
id: MONDO:0016027
name: benign neonatal seizures
def: "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life." [Orphanet:1949]
subset: gard_rare {source="GARD:1519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1949"}
subset: orphanet_rare {source="Orphanet:1949"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign familal neonatal seizures" EXACT [NCIT:C117307]
synonym: "benign familial convulsion" EXACT [NCIT:C117307]
synonym: "benign familial convulsions" EXACT [NCIT:C117307]
synonym: "benign familial neonatal convulsions" EXACT [Orphanet:1949]
synonym: "benign familial neonatal epilepsy" EXACT [MONDO:0002016]
synonym: "benign familial neonatal seizures" EXACT [DOID:14264, Orphanet:1949]
synonym: "benign neonatal convulsions" EXACT [DOID:14264]
synonym: "BFNS" EXACT ABBREVIATION [Orphanet:1949]
synonym: "familial neonatal seizures" EXACT [DOID:14777]
synonym: "seizures, benign familial neonatal" EXACT [OMIMPS:121200]
xref: DOID:14264 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:14777 {source="MONDO:equivalentTo"}
xref: GARD:1519 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:1949/attributed", source="Orphanet:1949/ntbt", source="Orphanet:1949"}
xref: MedDRA:10067866 {source="Orphanet:1949/e", source="Orphanet:1949"}
xref: MEDGEN:65082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535466 {source="Orphanet:1949/e", source="Orphanet:1949"}
xref: MESH:D020936 {source="Orphanet:1949/e", source="DOID:14264", source="DOID:14777", source="Orphanet:1949"}
xref: NCIT:C117307 {source="MONDO:equivalentTo"}
xref: NCIT:C84593 {source="DOID:14264"}
xref: OMIMPS:121200 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:1949 {source="MONDO:equivalentTo", source="DOID:14264"}
xref: SCTID:230410004 {source="MONDO:relatedTo", source="DOID:14777"}
xref: SCTID:276724002 {source="DOID:14264"}
xref: SCTID:279953009 {source="MONDO:equivalentTo", source="DOID:14777"}
xref: SCTID:38281008 {source="MONDO:equivalentTo", source="DOID:14264", source="MONDO:preferredExternal"}
xref: UMLS:C0220669 {source="MEDGEN:65082", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000412 {source="DOID:14264", source="DOID:14777"} ! neonatal period electroclinical syndrome
is_a: MONDO:0005027 {source="DOID:14264/inferred", source="MONDO:Redundant", source="NCIT:C117307"} ! epilepsy
is_a: MONDO:0020070 {source="Orphanet:1949"} ! neonatal epilepsy syndrome
relationship: has_characteristic HP:0003623 {source="Orphanet:1949"} ! Neonatal onset
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:121200"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7140" xsd:anyURI

[Term]
id: MONDO:0016028
name: erythromelalgia
def: "A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders." [Orphanet:1956]
subset: otar {source="MONDO:OTAR"}
xref: DOID:9240 {source="MONDO:equivalentTo"}
xref: ICD10CM:I73.8 {source="Orphanet:1956/inclusion", source="Orphanet:1956", source="Orphanet:1956/ntbt"}
xref: ICD10CM:I73.81 {source="MONDO:equivalentTo", source="DOID:9240"}
xref: ICD9:443.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9240"}
xref: MedDRA:10015284 {source="Orphanet:1956/e", source="Orphanet:1956"}
xref: MEDGEN:8687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004916 {source="Orphanet:1956/e", source="MONDO:equivalentTo", source="DOID:9240", source="Orphanet:1956"}
xref: NCIT:C34593 {source="MONDO:equivalentTo", source="DOID:9240"}
xref: Orphanet:1956 {source="MONDO:equivalentObsolete"}
xref: SCTID:238777005 {source="DOID:9240"}
xref: SCTID:37151006 {source="MONDO:equivalentTo", source="DOID:9240"}
xref: UMLS:C0014804 {source="MEDGEN:8687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005294 {source="DOID:9240", source="MESH:D004916"} ! peripheral vascular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016029
name: esthesioneuroblastoma
def: "A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases." [https://orcid.org/0000-0001-5208-3432, Orphanet:1957]
subset: gard_rare {source="GARD:2197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1957"}
subset: orphanet_rare {source="Orphanet:1957"}
subset: rare
synonym: "olfactory neuroblastoma" RELATED [Orphanet:1957]
xref: GARD:2197 {source="MONDO:GARD"}
xref: ICD10CM:C30.0 {source="Orphanet:1957/ntbt", source="Orphanet:1957"}
xref: icd11.foundation:2007774165 {source="MONDO:equivalentTo", source="Orphanet:1957", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:60217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1957 {source="MONDO:equivalentTo"}
xref: SCTID:422886007 {source="MONDO:equivalentTo"}
xref: UMLS:C0206717 {source="MEDGEN:60217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016713 {source="Orphanet:1957"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor

[Term]
id: MONDO:0016030
name: Evans syndrome
def: "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." [Orphanet:1959]
subset: gard_rare {source="GARD:6389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1112"}
subset: ordo_disorder {source="Orphanet:1959"}
subset: orphanet_rare {source="Orphanet:1959"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autoimmune hemolytic anaemia and autoimmune thrombocytopenia" EXACT OMO:0003005 []
synonym: "autoimmune hemolytic anemia and autoimmune thrombocytopenia" EXACT [Orphanet:1959]
synonym: "Evan syndrome" RELATED [GARD:0006389]
synonym: "Evans' syndrome" EXACT [MONDO:0004683]
synonym: "immune pancytopenia" EXACT [Orphanet:1959]
xref: DOID:8931 {source="MONDO:equivalentTo"}
xref: GARD:6389 {source="MONDO:GARD"}
xref: ICD10CM:D69.3 {source="Orphanet:1959/ntbt", source="Orphanet:1959"}
xref: ICD10CM:D69.41 {source="DOID:8931", source="MONDO:equivalentTo"}
xref: icd11.foundation:1048228553 {source="MONDO:equivalentTo", source="Orphanet:1959"}
xref: ICD9:287.32 {source="DOID:8931", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10053873 {source="Orphanet:1959/e", source="Orphanet:1959"}
xref: MEDGEN:75773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536380 {source="DOID:8931", source="MONDO:equivalentTo"}
xref: NANDO:1200310 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61284 {source="DOID:8931", source="MONDO:equivalentTo"}
xref: NORD:1112 {source="MONDO:NORD"}
xref: Orphanet:1959 {source="MONDO:equivalentTo"}
xref: SCTID:191315003 {source="DOID:8931"}
xref: SCTID:75331009 {source="DOID:8931", source="MONDO:equivalentTo"}
xref: UMLS:C0272126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75773"}
is_a: MONDO:0002254 {source="NCIT:C61284"} ! syndromic disease
is_a: MONDO:0004680 {source="DOID:8931"} ! primary thrombocytopenia
is_a: MONDO:0007179 {source="DOID:8931/inferred", source="MESH:C536380/inferred", source="MONDO:Redundant", source="NCIT:C61284"} ! autoimmune disease
is_a: MONDO:0019098 {source="Orphanet:1959"} ! autoimmune thrombocytopenia
is_a: MONDO:0020108 {source="MESH:C536380", source="Orphanet:1959"} ! autoimmune hemolytic anemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome" xsd:anyURI {source="GARD:0006389"}

[Term]
id: MONDO:0016031
name: facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
subset: gard_rare {source="GARD:2221", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1969"}
subset: ordo_malformation_syndrome {source="Orphanet:1969"}
subset: orphanet_rare {source="Orphanet:1969"}
subset: rare
synonym: "faces syndrome" EXACT [Orphanet:1969]
synonym: "facial features (unique), anorexia, cachexia, eye and skin anomalies" RELATED [GARD:0002221]
synonym: "Friedman-Goodman syndrome" EXACT [Orphanet:1969]
xref: GARD:2221 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1969/attributed", source="Orphanet:1969/ntbt", source="Orphanet:1969"}
xref: MEDGEN:419355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536384 {source="Orphanet:1969/e", source="MONDO:equivalentTo", source="Orphanet:1969"}
xref: Orphanet:1969 {source="MONDO:equivalentTo"}
xref: UMLS:C2931183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419355"}
is_a: MONDO:0015161 {source="Orphanet:1969"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:1969", source="Orphanet:1969/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0016032
name: femoral agenesis/hypoplasia
def: "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." [Orphanet:1987]
subset: gard_rare {source="GARD:1503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1987"}
subset: ordo_malformation_syndrome {source="Orphanet:1987"}
subset: orphanet_rare {source="Orphanet:1987"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital short femur" EXACT [Orphanet:1987]
synonym: "femoral intercalary meromelia" EXACT [Orphanet:1987]
xref: GARD:1503 {source="MONDO:GARD"}
xref: ICD10CM:Q72.4 {source="Orphanet:1987/specific", source="Orphanet:1987", source="Orphanet:1987/e"}
xref: icd11.foundation:662157487 {source="MONDO:equivalentTo", source="Orphanet:1987", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:755.34 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1987 {source="MONDO:equivalentTo"}
xref: SCTID:93255008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87499"}
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:35593851", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019713 {source="Orphanet:1987", source="Orphanet:1987/inferred"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0016033
name: Cornelia de Lange syndrome
def: "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." [PMID:20301283]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1009"}
subset: ordo_disorder {source="Orphanet:199"}
subset: ordo_malformation_syndrome {source="Orphanet:199"}
subset: orphanet_rare {source="Orphanet:199"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brachmann de Lange syndrome" EXACT [DOID:11725]
synonym: "Brachmann-de Lange syndrome" EXACT [Orphanet:199]
synonym: "CDLS" RELATED ABBREVIATION [GARD:0010109]
synonym: "Cornelia de Lange syndrome" EXACT CLINGEN_LABEL []
synonym: "De Lange syndrome" EXACT [DOID:11725]
xref: DOID:11725 {source="MONDO:equivalentTo"}
xref: GARD:10109 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="DOID:11725", source="Orphanet:199/ntbt", source="Orphanet:199/inclusion", source="Orphanet:199"}
xref: MedDRA:10056354 {source="Orphanet:199/e", source="Orphanet:199"}
xref: MEDGEN:78752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003635 {source="Orphanet:199/e", source="DOID:11725", source="Orphanet:199"}
xref: NANDO:1200960 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200958 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75016 {source="DOID:11725", source="MONDO:equivalentTo"}
xref: NORD:1009 {source="MONDO:NORD"}
xref: OMIMPS:122470 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:199 {source="DOID:11725", source="MONDO:equivalentTo"}
xref: SCTID:40354009 {source="DOID:11725"}
xref: UMLS:C0270972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78752"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75016"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:199"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019054 {source="PMID:20301283"} ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:199", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015216 {source="Orphanet:199", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic diaphragmatic or abdominal wall malformation
relationship: excluded_subClassOf MONDO:0018234 {source="https://orcid.org/0000-0002-0587-4693"} ! dysostosis
relationship: excluded_subClassOf MONDO:0020169 {source="Orphanet:199", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare disorder with ptosis
relationship: excluded_subClassOf MONDO:0020253 {source="Orphanet:199", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with a symptomatic strabismus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:122470"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016034
name: obsolete cleft lip with or without cleft palate
subset: ordo_group_of_disorders {source="Orphanet:1991"}
synonym: "Tessier cleft number 1,2" EXACT [Orphanet:1991]
xref: GARD:18754 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q36.0 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q36.1 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q36.9 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q37.0 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q37.1 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q37.2 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q37.3 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q37.4 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q37.5 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q37.8 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: ICD10CM:Q37.9 {source="Orphanet:1991/btnt", source="Orphanet:1991"}
xref: Orphanet:1991 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016035
name: Nelson syndrome
def: "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation." [NCIT:P378]
subset: gard_rare {source="GARD:7170", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1492", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199244"}
subset: orphanet_rare {source="Orphanet:199244"}
subset: rare
synonym: "dermal Ridges" RELATED [GARD:0007170]
synonym: "Nelson's syndrome" EXACT [DOID:4968]
synonym: "Ridges-off-the-end syndrome" RELATED [GARD:0007170]
xref: DOID:4968 {source="MONDO:equivalentTo"}
xref: GARD:7170 {source="MONDO:GARD"}
xref: ICD10CM:E24.1 {source="Orphanet:199244", source="Orphanet:199244/e", source="DOID:4968"}
xref: icd11.foundation:1945677910 {source="Orphanet:199244", source="MONDO:equivalentTo"}
xref: MedDRA:10028913 {source="Orphanet:199244", source="Orphanet:199244/e"}
xref: MEDGEN:342174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531754 {source="MONDO:equivalentTo"}
xref: MESH:D009347 {source="Orphanet:199244", source="MONDO:equivalentTo", source="Orphanet:199244/e", source="DOID:4968"}
xref: NCIT:C84917 {source="MONDO:equivalentTo", source="DOID:4968"}
xref: NORD:1492 {source="MONDO:NORD"}
xref: OMIM:125530 {source="MONDO:relatedTo", source="GARD:0007170"}
xref: Orphanet:199244 {source="MONDO:equivalentTo"}
xref: SCTID:190503006 {source="DOID:4968"}
xref: SCTID:43019009 {source="MONDO:equivalentTo", source="DOID:4968"}
xref: UMLS:C1852159 {source="MEDGEN:342174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003429 {source="Orphanet:199244"} ! functioning pituitary gland adenoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome" xsd:anyURI {source="GARD:0007170"}

[Term]
id: MONDO:0016036
name: obsolete Ledderhose disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4451" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004684

[Term]
id: MONDO:0016037
name: superficial Fibromatosis
def: "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." [NCIT:C6814]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:199257"}
subset: otar {source="MONDO:OTAR"}
synonym: "superficial Fibromatosis" EXACT [MONDO:0006437, NCIT:C6814]
xref: EFO:1000556 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M72.8 {source="Orphanet:199257/ntbt", source="Orphanet:199257"}
xref: ICD9:729.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6814 {source="MONDO:equivalentTo", source="EFO:1000556", source="MONDO:exact-label-match"}
xref: Orphanet:199257 {source="MONDO:equivalentTo"}
xref: SCTID:238853007 {source="MONDO:equivalentTo"}
xref: UMLS:C0406571 {source="MEDGEN:140804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005031 {source="EFO:1000556", source="NCIT:C6814"} ! fibromatosis
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:199257", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0016038
name: calcified aponeurotic fibroma
def: "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells." [NCIT:C4818]
subset: gard_rare {source="GARD:20329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199260"}
subset: orphanet_rare {source="Orphanet:199260"}
subset: rare
synonym: "calcifying aponeurotic fibroma" RELATED [Orphanet:199260]
synonym: "Juvenile aponeurotic fibroma" EXACT [NCIT:C4818]
synonym: "juvenile aponeurotic fibromatosis" EXACT [Orphanet:199260]
synonym: "Juvenile aponeurotic fibrosis" EXACT [NCIT:C4818]
synonym: "Keasby tumor" EXACT [Orphanet:199260]
synonym: "Keasby tumour" EXACT OMO:0003005 []
xref: GARD:20329 {source="MONDO:GARD"}
xref: ICD10CM:M72.8 {source="Orphanet:199260/ntbt", source="Orphanet:199260"}
xref: MEDGEN:107818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4818 {source="MONDO:equivalentTo"}
xref: Orphanet:199260 {source="MONDO:equivalentTo"}
xref: SCTID:703614006 {source="MONDO:equivalentTo"}
xref: UMLS:C0553647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107818"}
is_a: MONDO:0005167 {source="NCIT:C4818"} ! fibroma
is_a: MONDO:0016037 {source="Orphanet:199260"} ! superficial Fibromatosis

[Term]
id: MONDO:0016039
name: infantile digital fibromatosis
subset: gard_rare {source="GARD:8487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199267"}
subset: orphanet_rare {source="Orphanet:199267"}
subset: rare
synonym: "asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes" RELATED [GARD:0008487]
synonym: "digital fibrous tumor of Reye" EXACT [NCIT:C3456]
synonym: "digital fibrous tumour of Reye" EXACT OMO:0003005 []
synonym: "IDF" RELATED ABBREVIATION [GARD:0008487]
synonym: "inclusion body fibromatosis" EXACT [MONDO:ambiguous, NCIT:C3456, Orphanet:199267]
synonym: "inclusion body fibromatosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "infantile digital fibroma/fibromatosis" EXACT [NCIT:C3456]
synonym: "infantile digital fibromatosis" EXACT [NCIT:C3456]
synonym: "recurring digital fibrous tumor of childhood" EXACT [Orphanet:199267]
synonym: "recurring digital fibrous tumour of childhood" EXACT OMO:0003005 []
synonym: "Reye tumor" EXACT [NCIT:C3456]
synonym: "Reye tumour" EXACT OMO:0003005 []
synonym: "Reye's tumor" EXACT [NCIT:C3456, Orphanet:199267]
synonym: "Reye's tumour" EXACT OMO:0003005 []
xref: GARD:8487 {source="MONDO:GARD"}
xref: HP:0025197 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M72.8 {source="Orphanet:199267/ntbt", source="Orphanet:199267"}
xref: ICD9:238.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:232929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3456 {source="MONDO:equivalentTo", source="EFO:1000301"}
xref: Orphanet:199267 {source="MONDO:equivalentTo"}
xref: SCTID:399903008 {source="MONDO:equivalentTo"}
xref: UMLS:C1318562 {source="MEDGEN:232929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005031 {source="EFO:1000301", source="NCIT:C3456"} ! fibromatosis
is_a: MONDO:0016037 {source="Orphanet:199267"} ! superficial Fibromatosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4093" xsd:anyURI
property_value: IAO:0000589 "inclusion body fibromatosis (disease)" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis" xsd:anyURI {source="GARD:0008487"}

[Term]
id: MONDO:0016040
name: harlequin syndrome
def: "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." [Orphanet:199282]
subset: gard_rare {source="GARD:8610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199282"}
subset: orphanet_rare {source="Orphanet:199282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "progressive isolated segmental anhidrosis" EXACT [Orphanet:199282]
synonym: "sudden onset of unilateral flushing and sweating" RELATED [GARD:0008610]
synonym: "unilateral loss of facial flushing and sweating with contralateral anhidrosis" RELATED [GARD:0008610]
xref: GARD:8610 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="Orphanet:199282/attributed", source="Orphanet:199282/ntbt", source="Orphanet:199282"}
xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:384475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535634 {source="Orphanet:199282/e", source="MONDO:equivalentTo", source="Orphanet:199282"}
xref: Orphanet:199282 {source="MONDO:equivalentTo"}
xref: SCTID:14070001000004105 {source="MONDO:equivalentTo"}
xref: UMLS:C2029348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384475"}
is_a: MONDO:0001292 {source="Orphanet:199282"} ! autonomic nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018557"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome" xsd:anyURI {source="GARD:0008610"}

[Term]
id: MONDO:0016041
name: congenital microgastria
def: "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." [Orphanet:199293]
subset: gard_rare {source="GARD:20330", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199293"}
subset: ordo_morphological_anomaly {source="Orphanet:199293"}
subset: orphanet_rare {source="Orphanet:199293"}
subset: rare
xref: GARD:20330 {source="MONDO:GARD"}
xref: ICD10CM:Q40.2 {source="Orphanet:199293/ntbt", source="Orphanet:199293"}
xref: ICD9:750.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199293 {source="MONDO:equivalentTo"}
xref: SCTID:83714006 {source="MONDO:equivalentTo"}
xref: UMLS:C0266150 {source="MEDGEN:82732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016042
name: late-onset isolated ACTH deficiency
def: "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described." [Orphanet:199299]
subset: gard_rare {source="GARD:20331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199299"}
subset: orphanet_rare {source="Orphanet:199299"}
subset: rare
xref: GARD:20331 {source="MONDO:GARD"}
xref: ICD10CM:E23.6 {source="Orphanet:199299", source="Orphanet:199299/ntbt"}
xref: MEDGEN:1651973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199299 {source="MONDO:equivalentTo"}
xref: UMLS:C4751433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1651973"}
is_a: MONDO:0019832 {source="Orphanet:199299"} ! acquired pituitary hormone deficiency

[Term]
id: MONDO:0016043
name: isolated cleft lip
def: "Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base." [Orphanet:199302]
subset: gard_rare {source="GARD:17091", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199302"}
subset: ordo_morphological_anomaly {source="Orphanet:199302"}
subset: orphanet_rare {source="Orphanet:199302"}
subset: rare
synonym: "isolated cleft lip (disease)" EXACT []
synonym: "nonsyndromic cleft lip (disease)" EXACT [MONDO:patterns/isolated]
xref: GARD:17091 {source="MONDO:GARD"}
xref: ICD10CM:Q36.0 {source="Orphanet:199302", source="Orphanet:199302/btnt"}
xref: ICD10CM:Q36.1 {source="Orphanet:199302", source="Orphanet:199302/btnt"}
xref: ICD10CM:Q36.9 {source="Orphanet:199302", source="Orphanet:199302/btnt"}
xref: icd11.foundation:172183323 {source="MONDO:equivalentTo", source="Orphanet:199302", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10009259 {source="Orphanet:199302", source="Orphanet:199302/e"}
xref: MEDGEN:40327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199302 {source="MONDO:equivalentTo"}
xref: UMLS:C0008924 {source="MEDGEN:40327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
intersection_of: MONDO:0004747 ! cleft lip
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016044
name: cleft lip/palate
def: "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate." [Orphanet:199306]
subset: gard_rare {source="GARD:17092", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199306"}
subset: ordo_morphological_anomaly {source="Orphanet:199306"}
subset: orphanet_rare {source="Orphanet:199306"}
subset: rare
synonym: "alveolar cleft lip and palate" EXACT [Orphanet:199306]
synonym: "cleft lip and palate" EXACT [Orphanet:199306]
synonym: "cleft lip-alveolus-palate syndrome" EXACT [Orphanet:199306]
synonym: "FLP" EXACT ABBREVIATION [Orphanet:199306]
xref: GARD:17092 {source="MONDO:GARD"}
xref: ICD10CM:Q35-Q37 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:Q37.0 {source="Orphanet:199306/btnt", source="Orphanet:199306"}
xref: ICD10CM:Q37.1 {source="Orphanet:199306/btnt", source="Orphanet:199306"}
xref: ICD10CM:Q37.2 {source="Orphanet:199306/btnt", source="Orphanet:199306"}
xref: ICD10CM:Q37.3 {source="Orphanet:199306/btnt", source="Orphanet:199306"}
xref: ICD10CM:Q37.4 {source="Orphanet:199306/btnt", source="Orphanet:199306"}
xref: ICD10CM:Q37.5 {source="Orphanet:199306/btnt", source="Orphanet:199306"}
xref: ICD10CM:Q37.8 {source="Orphanet:199306/btnt", source="Orphanet:199306"}
xref: ICD10CM:Q37.9 {source="Orphanet:199306/btnt", source="Orphanet:199306"}
xref: ICD9:749.20 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:749.25 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10009260 {source="Orphanet:199306/e", source="Orphanet:199306"}
xref: MEDGEN:57640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199306 {source="MONDO:equivalentTo"}
xref: SCTID:66948001 {source="MONDO:equivalentTo"}
xref: UMLS:C0158646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57640"}
is_a: MONDO:0000358 {source="PMID:33705067", source="https://orcid.org/0009-0001-6494-4831"} ! orofacial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016045
name: tetragametic chimerism
def: "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." [Orphanet:199310]
subset: gard_rare {source="GARD:20332", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199310"}
subset: ordo_malformation_syndrome {source="Orphanet:199310"}
subset: orphanet_rare {source="Orphanet:199310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XX/46,XY chimerism" EXACT [Orphanet:199310]
xref: GARD:20332 {source="MONDO:GARD"}
xref: ICD10CM:Q99.0 {source="Orphanet:199310", source="Orphanet:199310/e", source="Orphanet:199310/specific"}
xref: MEDGEN:609542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199310 {source="MONDO:equivalentTo"}
xref: UMLS:C0432480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609542"}
is_a: MONDO:0017975 {source="Orphanet:199310"} ! sex chromosome disorder of sex development

[Term]
id: MONDO:0016046
name: familial clubfoot with or without associated lower limb anomalies
def: "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly." [Orphanet:199315]
subset: gard_rare {source="GARD:17093", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199315"}
subset: ordo_malformation_syndrome {source="Orphanet:199315"}
subset: orphanet_rare {source="Orphanet:199315"}
subset: rare
xref: GARD:17093 {source="MONDO:GARD"}
xref: ICD10CM:Q66.8 {source="Orphanet:199315", source="Orphanet:199315/attributed", source="Orphanet:199315/ntbt"}
xref: MEDGEN:1843133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199315 {source="MONDO:equivalentTo"}
xref: UMLS:C5680522 {source="MEDGEN:1843133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016047
name: endophthalmitis
def: "An infectious process affecting the internal structures of the eye." [NCIT:C34586]
subset: gard_rare {source="GARD:20333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199323"}
subset: orphanet_rare {source="Orphanet:199323"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:4692 {source="MONDO:equivalentTo"}
xref: GARD:20333 {source="MONDO:GARD"}
xref: ICD10CM:H44.0 {source="Orphanet:199323/btnt", source="Orphanet:199323"}
xref: ICD10CM:H44.1 {source="Orphanet:199323/btnt", source="Orphanet:199323"}
xref: icd11.foundation:1211141166 {source="Orphanet:199323", source="MONDO:equivalentTo"}
xref: ICD9:360.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10014801 {source="Orphanet:199323", source="Orphanet:199323/e"}
xref: MEDGEN:8633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009877 {source="Orphanet:199323", source="MONDO:equivalentTo", source="Orphanet:199323/e", source="DOID:4692"}
xref: NCIT:C34586 {source="MONDO:equivalentTo", source="DOID:4692"}
xref: Orphanet:199323 {source="MONDO:equivalentTo"}
xref: SCTID:123052006 {source="DOID:4692"}
xref: SCTID:128295000 {source="DOID:4692"}
xref: SCTID:1847009 {source="MONDO:equivalentTo", source="DOID:4692"}
xref: SCTID:82255004 {source="DOID:4692"}
xref: UMLS:C0014236 {source="MEDGEN:8633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="DOID:4692", source="MONDO:0015937-obsoleted"} ! eye disorder
is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C34586/inferred"} ! inflammatory disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0016048
name: isolated autosomal dominant hypomagnesemia, Glaudemans type
def: "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." [Orphanet:199326]
subset: gard_rare {source="GARD:20334", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199326"}
subset: orphanet_rare {source="Orphanet:199326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20334 {source="MONDO:GARD"}
xref: ICD10CM:E83.4 {source="Orphanet:199326", source="Orphanet:199326/attributed", source="Orphanet:199326/ntbt"}
xref: MEDGEN:930824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199326 {source="MONDO:equivalentTo"}
xref: SCTID:722008003 {source="MONDO:equivalentTo"}
xref: UMLS:C4305155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930824"}
is_a: MONDO:0017626 {source="Orphanet:199326"} ! familial primary hypomagnesemia with normocalcuria

[Term]
id: MONDO:0016049
name: congenital myopathy, Paradas type
def: "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." [Orphanet:199329]
subset: gard_rare {source="GARD:20335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199329"}
subset: orphanet_rare {source="Orphanet:199329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20335 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:199329", source="Orphanet:199329/attributed", source="Orphanet:199329/ntbt"}
xref: MEDGEN:1388555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199329 {source="MONDO:equivalentTo"}
xref: UMLS:C4511057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388555"}
is_a: MONDO:0016145 {source="Orphanet:199329"} ! qualitative or quantitative defects of dysferlin
is_a: MONDO:0019950 {source="Orphanet:199329"} ! congenital muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016050
name: obsolete thiamine-responsive encephalopathy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4205" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011841

[Term]
id: MONDO:0016051
name: cleft lip-retinopathy syndrome
def: "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." [Orphanet:1995]
subset: gard_rare {source="GARD:435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1995"}
subset: ordo_malformation_syndrome {source="Orphanet:1995"}
subset: orphanet_rare {source="Orphanet:1995"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ausems Wittebol-Post Hennekam syndrome" RELATED [GARD:0000435]
synonym: "Ausems-Wittebol Post-Hennekam syndrome" EXACT [Orphanet:1995]
synonym: "cleft lip with progressive retinopathy" RELATED [GARD:0000435]
synonym: "cleft lip-cone rod dystrophy syndrome" EXACT [Orphanet:1995]
synonym: "cleft lip-progressive retinopathy syndrome" EXACT [Orphanet:1995]
xref: GARD:435 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1995", source="Orphanet:1995/attributed", source="Orphanet:1995/ntbt"}
xref: MEDGEN:419494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538272 {source="MONDO:equivalentTo"}
xref: Orphanet:1995 {source="MONDO:equivalentTo"}
xref: UMLS:C2931789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419494"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:1995"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016052
name: atypical autism
def: "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" [Orphanet:199627]
subset: gard_rare {source="GARD:20336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199627"}
subset: orphanet_rare {source="Orphanet:199627"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0060042 {source="MONDO:equivalentTo"}
xref: GARD:20336 {source="MONDO:GARD"}
xref: ICD9:299.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10003747 {source="Orphanet:199627/e", source="Orphanet:199627"}
xref: MEDGEN:572882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199627 {source="MONDO:equivalentTo"}
xref: SCTID:231536004 {source="MONDO:equivalentTo"}
xref: UMLS:C0338986 {source="MEDGEN:572882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000594 {source="Orphanet:199627"} ! pervasive developmental disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680"} ! rare

[Term]
id: MONDO:0016053
name: isolated cerebellar vermis hypoplasia
def: "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." [Orphanet:199630]
subset: gard_rare {source="GARD:20337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199630"}
subset: ordo_morphological_anomaly {source="Orphanet:199630"}
subset: orphanet_rare {source="Orphanet:199630"}
subset: rare
xref: GARD:20337 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:199630/ntbt", source="Orphanet:199630"}
xref: MEDGEN:1638500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199630 {source="MONDO:equivalentTo"}
xref: SCTID:766709000 {source="MONDO:equivalentTo"}
xref: UMLS:C4707794 {source="MEDGEN:1638500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016054
name: obsolete cerebral malformation
subset: ordo_group_of_disorders {source="Orphanet:199633"}
subset: otar {source="MONDO:OTAR"}
synonym: "brain malformation" EXACT [Orphanet:199633]
xref: GARD:20338 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:2100217 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:199633 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:199633", source="https://github.com/monarch-initiative/mondo-build/issues/58", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016055
name: obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:199639"}
xref: GARD:20339 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:199639 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016056
name: isolated congenital microcephaly
subset: gard_rare {source="GARD:3603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:199642"}
subset: ordo_malformation_syndrome {source="Orphanet:199642"}
subset: orphanet_rare {source="Orphanet:199642"}
subset: rare
synonym: "microcephaly, primary" EXACT [MONDO:design_pattern]
synonym: "primary microcephaly" EXACT [DOID:0070297]
synonym: "true microcephaly" EXACT [DOID:0070297]
xref: DOID:0070297 {source="MONDO:equivalentTo"}
xref: GARD:3603 {source="MONDO:GARD"}
xref: ICD10CM:Q02 {source="Orphanet:199642/attributed", source="Orphanet:199642/ntbt", source="Orphanet:199642"}
xref: MedDRA:10027534 {source="Orphanet:199642", source="Orphanet:199642/e"}
xref: MEDGEN:44422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:199642 {source="MONDO:equivalentTo"}
xref: UMLS:C0025958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44422"}
is_a: MONDO:0001149 {source="DOID:0070297", source="https://orcid.org/0000-0002-6601-2165"} ! microcephaly
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:199642", source="Orphanet:199642/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0016057
name: isolated encephalocele
def: "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." [MESH:D004677]
subset: gard_rare {source="GARD:6333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1089"}
subset: ordo_disorder {source="Orphanet:199647"}
subset: ordo_morphological_anomaly {source="Orphanet:199647"}
subset: orphanet_rare {source="Orphanet:199647"}
subset: rare
synonym: "bifid cranium" RELATED [GARD:0006333]
synonym: "craniocele" RELATED [GARD:0006333]
synonym: "cranium bifidum" RELATED [GARD:0006333]
synonym: "Encephalocele" EXACT [NORD:1089]
synonym: "encephalocele" RELATED [GARD:0006333]
xref: GARD:6333 {source="MONDO:GARD"}
xref: ICD10CM:Q01.0 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"}
xref: ICD10CM:Q01.1 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"}
xref: ICD10CM:Q01.2 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"}
xref: ICD10CM:Q01.8 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"}
xref: ICD10CM:Q01.9 {source="Orphanet:199647/specific", source="Orphanet:199647/btnt", source="Orphanet:199647"}
xref: MedDRA:10014617 {source="Orphanet:199647/e", source="Orphanet:199647"}
xref: MEDGEN:1830107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004677 {source="Orphanet:199647/e", source="Orphanet:199647"}
xref: NORD:1089 {source="MONDO:NORD"}
xref: Orphanet:199647 {source="MONDO:equivalentTo"}
xref: UMLS:C5680519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830107"}
is_a: MONDO:0017078 {source="Orphanet:199647"} ! cephalocele

[Term]
id: MONDO:0016058
name: paroxysmal dystonia
subset: disease_grouping
subset: gard_rare {source="GARD:20340", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:200037"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20340 {source="MONDO:GARD"}
xref: icd11.foundation:2047715743 {source="Orphanet:200037", source="MONDO:equivalentTo"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:200037 {source="MONDO:equivalentTo"}
xref: SCTID:230310003 {source="MONDO:equivalentTo"}
xref: UMLS:C0393588 {source="MEDGEN:97951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="MONDO:0017657-obsoleted"} ! movement disorder
is_a: MONDO:0020065 {source="Orphanet:200037"} ! combined dystonia

[Term]
id: MONDO:0016059
name: cleft lip/palate-deafness-sacral lipoma syndrome
def: "Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive." [Orphanet:2003]
subset: gard_rare {source="GARD:18755", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2003"}
subset: ordo_malformation_syndrome {source="Orphanet:2003"}
subset: orphanet_rare {source="Orphanet:2003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lowry-Yong syndrome" EXACT [Orphanet:2003]
xref: GARD:18755 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2003", source="Orphanet:2003/attributed", source="Orphanet:2003/ntbt"}
xref: MEDGEN:905203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2003 {source="MONDO:equivalentTo"}
xref: SCTID:716007007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905203"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0016060
name: laryngotracheoesophageal cleft
def: "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus." [Orphanet:2004]
subset: gard_rare {source="GARD:3188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2004"}
subset: ordo_morphological_anomaly {source="Orphanet:2004"}
subset: orphanet_rare {source="Orphanet:2004"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital cleft larynx" EXACT [NCIT:C98622]
synonym: "Larnygeotracheoesophageal cleft" EXACT [NCIT:C98622]
synonym: "laryngeal cleft" EXACT [NCIT:C98622]
synonym: "laryngo-tracheo-esophageal cleft" EXACT [Orphanet:2004]
synonym: "laryngo-tracheo-esophageal diastema" EXACT [Orphanet:2004]
synonym: "LC" EXACT ABBREVIATION [Orphanet:2004]
synonym: "LTEC" EXACT ABBREVIATION [Orphanet:2004]
synonym: "tracheal cleft" EXACT [NCIT:C98622]
xref: GARD:3188 {source="MONDO:GARD"}
xref: ICD10CM:Q32.1 {source="Orphanet:2004/ntbt", source="Orphanet:2004"}
xref: icd11.foundation:271795917 {source="Orphanet:2004", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MESH:C537875 {source="MONDO:equivalentTo"}
xref: NCIT:C98622 {source="MONDO:equivalentTo"}
xref: Orphanet:2004 {source="MONDO:equivalentTo"}
xref: SCTID:232461002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002567 {source="https://orcid.org/0000-0001-5208-3432"} ! tracheal disorder
is_a: MONDO:0003749 {source="https://orcid.org/0000-0001-5208-3432"} ! esophageal disorder
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0016061
name: immunodeficiency with factor H anomaly
subset: gard_rare {source="GARD:17099", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:200421"}
subset: orphanet_rare {source="Orphanet:200421"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17099 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:200421", source="Orphanet:200421/attributed", source="Orphanet:200421/ntbt"}
xref: Orphanet:200421 {source="MONDO:equivalentTo"}
is_a: MONDO:0012350 ! complement factor H deficiency

[Term]
id: MONDO:0016062
name: median cleft lip/mandibule
def: "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification." [Orphanet:2006]
subset: gard_rare {source="GARD:18756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2006"}
subset: ordo_morphological_anomaly {source="Orphanet:2006"}
subset: orphanet_rare {source="Orphanet:2006"}
subset: rare
synonym: "median cleft lower facial stage" EXACT [Orphanet:2006]
xref: GARD:18756 {source="MONDO:GARD"}
xref: ICD10CM:Q36.1 {source="Orphanet:2006", source="Orphanet:2006/ntbt"}
xref: MEDGEN:1389145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2006 {source="MONDO:equivalentTo"}
xref: SCTID:723383005 {source="MONDO:equivalentTo"}
xref: UMLS:C4518460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1389145"}
is_a: MONDO:0015411 {source="PMID:8559813", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016063
name: Cowden disease
def: "A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group." [Orphanet:201]
subset: gard_rare {source="GARD:6202", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:201"}
subset: orphanet_rare {source="Orphanet:201"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD" RELATED ABBREVIATION [GARD:0006202]
synonym: "Cowden disease" EXACT [NCIT:C3076, Orphanet:201]
synonym: "Cowden syndrome" EXACT [NCIT:C3076]
synonym: "Cowden's disease" EXACT [NCIT:C3076]
synonym: "dysplastic gangliocytoma of cerebellum" RELATED [DOID:6457, NCIT:C8419]
synonym: "Lhermitte-Duclos disease" RELATED EXCLUDE [DOID:6457]
synonym: "MHAM" RELATED ABBREVIATION [GARD:0006202]
synonym: "multiple hamartoma syndrome" EXACT [DOID:6457, NCIT:C3076, Orphanet:201]
synonym: "PTEN hamartoma syndrome" RELATED EXCLUDE [NCIT:C3076]
xref: DOID:6457 {source="MONDO:equivalentTo"}
xref: GARD:6202 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:201/attributed", source="Orphanet:201/ntbt", source="Orphanet:201"}
xref: MedDRA:10051906 {source="Orphanet:201/e", source="Orphanet:201"}
xref: MEDGEN:5420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006223 {source="DOID:6457", source="Orphanet:201/e", source="MONDO:equivalentTo", source="Orphanet:201"}
xref: NANDO:2200918 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3076 {source="DOID:6457", source="MONDO:equivalentTo"}
xref: NCIT:C8419 {source="DOID:6457", source="MONDO:relatedTo"}
xref: OMIMPS:158350 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:201 {source="DOID:6457", source="MONDO:equivalentTo"}
xref: SCTID:58037000 {source="DOID:6457", source="MONDO:equivalentTo"}
xref: SCTID:67944007 {source="DOID:6457"}
xref: UMLS:C0018553 {source="MEDGEN:5420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:6457", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0100118 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary skin disorder
relationship: excluded_subClassOf MONDO:0015185 {source="Orphanet:201", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal polyposis syndrome
relationship: excluded_subClassOf MONDO:0015356 {source="MESH:D006223", source="MONDO:Redundant", source="NCIT:C3076", source="Orphanet:201/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0017623 {source="Orphanet:201", source="https://orcid.org/0000-0001-5208-3432"} ! PTEN hamartoma tumor syndrome
relationship: has_characteristic HP:0000006 {source="Orphanet:201"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:158350"} ! inherited

[Term]
id: MONDO:0016064
name: cleft palate
def: "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees." [Orphanet:2014]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:2014"}
subset: otar {source="MONDO:OTAR"}
synonym: "cleft velum" RELATED EXCLUDE [DOID:674]
synonym: "palatoschisis" EXACT [DOID:674]
synonym: "uranostaphyloschisis" EXACT [DOID:674]
xref: DOID:674 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q35 {source="DOID:674"}
xref: ICD10CM:Q35.1 {source="Orphanet:2014", source="Orphanet:2014/btnt"}
xref: ICD10CM:Q35.3 {source="Orphanet:2014", source="Orphanet:2014/btnt"}
xref: ICD10CM:Q35.5 {source="Orphanet:2014", source="Orphanet:2014/btnt"}
xref: ICD10CM:Q35.7 {source="Orphanet:2014", source="Orphanet:2014/btnt"}
xref: ICD10CM:Q35.9 {source="Orphanet:2014", source="Orphanet:2014/btnt", source="DOID:674"}
xref: icd11.foundation:2129534948 {source="Orphanet:2014", source="MONDO:equivalentTo"}
xref: ICD9:749.0 {source="DOID:674"}
xref: ICD9:749.00 {source="DOID:674"}
xref: MedDRA:10009269 {source="Orphanet:2014", source="Orphanet:2014/e"}
xref: MEDGEN:756015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002972 {source="Orphanet:2014", source="MONDO:equivalentTo", source="Orphanet:2014/e", source="DOID:674"}
xref: NCIT:C87069 {source="MONDO:equivalentTo", source="DOID:674"}
xref: Orphanet:2014 {source="MONDO:equivalentTo"}
xref: Orphanet:99772 {source="DOID:674"}
xref: SCTID:156940009 {source="DOID:674"}
xref: SCTID:204593009 {source="DOID:674"}
xref: SCTID:204605001 {source="DOID:674"}
xref: SCTID:253986002 {source="DOID:674"}
xref: SCTID:268196005 {source="DOID:674"}
xref: SCTID:63567004 {source="MONDO:equivalentTo"}
xref: SCTID:87979003 {source="DOID:674"}
xref: UMLS:C2981150 {source="MEDGEN:756015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="DOID:674"} ! orofacial cleft
is_a: MONDO:0019755 {source="MONDO:0015475-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton

[Term]
id: MONDO:0016065
name: cleft palate-short stature-vertebral anomalies syndrome
def: "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." [Orphanet:2015]
subset: gard_rare {source="GARD:1392", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2015"}
subset: ordo_malformation_syndrome {source="Orphanet:2015"}
subset: orphanet_rare {source="Orphanet:2015"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft palate short stature vertebral anomalies" RELATED [GARD:0001392]
synonym: "Mathieu-De Broca-Bony syndrome" EXACT [GARD:0001392, Orphanet:2015]
xref: GARD:1392 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2015/attributed", source="Orphanet:2015/ntbt", source="Orphanet:2015"}
xref: MEDGEN:930373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2015 {source="MONDO:equivalentTo", source="GARD:0001392"}
xref: SCTID:719466009 {source="MONDO:equivalentTo"}
xref: UMLS:C4304704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930373"}
is_a: MONDO:0015159 {source="Orphanet:2015"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2015", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies" xsd:anyURI {source="GARD:0001392"}

[Term]
id: MONDO:0016066
name: sternal cleft
def: "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated." [Orphanet:2017]
subset: disease_grouping
subset: gard_rare {source="GARD:5012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2017"}
subset: orphanet_rare {source="Orphanet:2017"}
subset: rare
synonym: "cleft sternum" EXACT [Orphanet:2017]
synonym: "congenital sternal cleft" RELATED [GARD:0005012]
synonym: "sternum bifidum" EXACT [Orphanet:2017]
xref: GARD:5012 {source="MONDO:GARD"}
xref: ICD10CM:Q76.7 {source="Orphanet:2017", source="Orphanet:2017/ntbt"}
xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:419096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537489 {source="MONDO:equivalentTo", source="Orphanet:2017", source="Orphanet:2017/e"}
xref: Orphanet:2017 {source="MONDO:equivalentTo"}
xref: SCTID:54008006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931507 {source="MONDO:equivalentTo", source="MEDGEN:419096", source="MONDO:MEDGEN"}
is_a: MONDO:0015929 {source="Orphanet:2017"} ! thoracic malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft" xsd:anyURI {source="GARD:0005012"}

[Term]
id: MONDO:0016067
name: Crandall syndrome
def: "This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder." [https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome]
subset: gard_rare {source="GARD:1561", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:202"}
subset: orphanet_rare {source="Orphanet:202"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia deafness hypogonadism" RELATED [GARD:0001561]
synonym: "alopecia-deafness-hypogonadism syndrome" EXACT [Orphanet:202]
synonym: "alopecia-sensorineural deafness-hypogonadism syndrome" EXACT [Orphanet:202]
xref: GARD:1561 {source="MONDO:GARD"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:202 {source="MONDO:equivalentTo"}
xref: SCTID:278098005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96597"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome" xsd:anyURI {source="GARD:0001561"}

[Term]
id: MONDO:0016068
name: fibrochondrogenesis
def: "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported." [https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis]
subset: gard_rare {source="GARD:2321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2021"}
subset: orphanet_rare {source="Orphanet:2021"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0060465 {source="MONDO:equivalentTo"}
xref: GARD:2321 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:2021/attributed", source="Orphanet:2021/ntbt", source="Orphanet:2021"}
xref: MEDGEN:82700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562524 {source="DOID:0060465", source="MONDO:equivalentTo"}
xref: NANDO:2201016 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:228520 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2021 {source="DOID:0060465", source="MONDO:equivalentTo"}
xref: SCTID:17144009 {source="DOID:0060465", source="MONDO:equivalentTo"}
xref: UMLS:C0265282 {source="MONDO:equivalentTo", source="MEDGEN:82700", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0005516 {source="DOID:0060465"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:228520"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis" xsd:anyURI {source="GARD:0002321"}

[Term]
id: MONDO:0016070
name: hereditary gingival fibromatosis
def: "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." [Orphanet:2024]
subset: gard_rare {source="GARD:16582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2024"}
subset: ordo_malformation_syndrome {source="Orphanet:2024"}
subset: orphanet_rare {source="Orphanet:2024"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant gingival fibromatosis" EXACT [Orphanet:2024]
synonym: "autosomal dominant gingival hyperplasia" EXACT [Orphanet:2024]
synonym: "hereditary gingival fibromatosis" EXACT [DOID:0060466]
synonym: "hereditary gingival hyperplasia" EXACT [DOID:0060466, Orphanet:2024]
xref: DOID:0060466 {source="MONDO:equivalentTo"}
xref: GARD:16582 {source="MONDO:GARD"}
xref: ICD10CM:K06.1 {source="Orphanet:2024/attributed", source="Orphanet:2024/ntbt", source="Orphanet:2024"}
xref: MEDGEN:140775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562884 {source="DOID:0060466"}
xref: OMIMPS:135300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2024 {source="DOID:0060466", source="MONDO:equivalentTo"}
xref: SCTID:109620006 {source="DOID:0060466", source="MONDO:equivalentTo"}
xref: UMLS:C0399440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140775"}
is_a: MONDO:0002507 {source="DOID:0060466"} ! gingival overgrowth
is_a: MONDO:0021147 {source="Orphanet:2024", source="Orphanet:2024/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:135300"} ! inherited

[Term]
id: MONDO:0016071
name: juvenile hyaline fibromatosis
def: "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." [Orphanet:2028]
subset: gard_rare {source="GARD:16583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2028"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mesenchymal dysplasia" EXACT [NCIT:C98297]
synonym: "Molluscum fibrosum" EXACT [NCIT:C98297]
synonym: "Murray-Puretic-Drescher syndrome" EXACT [Orphanet:2028]
synonym: "Puretic syndrome" EXACT [Orphanet:2028]
xref: GARD:16583 {source="MONDO:GARD"}
xref: ICD10CM:M72.8 {source="Orphanet:2028", source="Orphanet:2028/attributed", source="Orphanet:2028/ntbt"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:411197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057770 {source="Orphanet:2028", source="Orphanet:2028/e"}
xref: NCIT:C98297 {source="MONDO:equivalentTo"}
xref: Orphanet:2028 {source="MONDO:equivalentTo"}
xref: SCTID:238861002 {source="MONDO:equivalentTo"}
xref: UMLS:C2745948 {source="MEDGEN:411197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0006424 {source="Orphanet:2028"} ! soft tissue neoplasm
is_a: MONDO:0009229 {source="Orphanet:2028"} ! hyaline fibromatosis syndrome
is_a: MONDO:0019707 {source="Orphanet:2028", source="Orphanet:2028/inferred"} ! primary osteolysis
is_a: MONDO:0021154 {source="Orphanet:2028"} ! dermis disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare

[Term]
id: MONDO:0016072
name: obsolete anomaly of puberty or/and menstrual cycle of genetic origin
def: "OBSOLETE. An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:202940"}
synonym: "genetic anomaly of puberty or/and menstrual cycle" EXACT [MONDO:patterns/genetic]
xref: GARD:20341 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:202940 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016073
name: syndromic microphthalmia
def: "A microphthalmia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: disease_grouping
subset: gard_rare {source="GARD:20342", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:202948"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microphthalmia, syndromic" EXACT [OMIMPS:309800]
synonym: "syndrome associated with microphthalmia" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic microphthalmia" EXACT [MONDO:0000064, MONDO:patterns/syndromic]
xref: DOID:0080636 {source="MONDO:equivalentTo"}
xref: GARD:20342 {source="MONDO:GARD"}
xref: MEDGEN:1826052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:309800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:202948 {source="MONDO:equivalentTo"}
xref: UMLS:C5679782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826052"}
is_a: MONDO:0021129 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! microphthalmia
intersection_of: MONDO:0021129 ! microphthalmia
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:309800"} ! inherited

[Term]
id: MONDO:0016074
name: obsolete fibrosarcoma
is_obsolete: true
replaced_by: MONDO:0005164

[Term]
id: MONDO:0016075
name: filariasis
def: "A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation." [Orphanet:2034]
subset: disease_grouping
subset: gard_rare {source="GARD:18757", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1148"}
subset: ordo_group_of_disorders {source="Orphanet:2034"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease due to superfamily Filarioidea" EXACT [DOID:1080]
xref: DOID:1080 {source="MONDO:equivalentTo"}
xref: GARD:18757 {source="MONDO:GARD"}
xref: ICD10CM:B74 {source="MONDO:equivalentTo", source="DOID:1080"}
xref: ICD10CM:B74.0 {source="Orphanet:2034", source="Orphanet:2034/e"}
xref: ICD10CM:B74.1 {source="Orphanet:2034", source="Orphanet:2034/e"}
xref: ICD10CM:B74.2 {source="Orphanet:2034", source="Orphanet:2034/e"}
xref: ICD10CM:B74.3 {source="Orphanet:2034", source="Orphanet:2034/e"}
xref: ICD10CM:B74.4 {source="Orphanet:2034", source="Orphanet:2034/e"}
xref: ICD10CM:B74.8 {source="Orphanet:2034", source="Orphanet:2034/e"}
xref: ICD10CM:B74.9 {source="Orphanet:2034", source="Orphanet:2034/e", source="DOID:1080"}
xref: icd11.foundation:1975325075 {source="Orphanet:2034", source="MONDO:equivalentTo"}
xref: ICD9:125.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1080"}
xref: MedDRA:10016674 {source="Orphanet:2034", source="Orphanet:2034/e"}
xref: MEDGEN:4706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005368 {source="Orphanet:2034", source="MONDO:equivalentTo", source="Orphanet:2034/e", source="DOID:1080"}
xref: NCIT:C34611 {source="MONDO:equivalentTo", source="DOID:1080"}
xref: NORD:1148 {source="MONDO:NORD"}
xref: Orphanet:2034 {source="MONDO:equivalentTo"}
xref: SCTID:105706003 {source="MONDO:equivalentTo", source="DOID:1080"}
xref: SCTID:187161002 {source="DOID:1080"}
xref: SCTID:187532008 {source="DOID:1080"}
xref: SCTID:50342004 {source="DOID:1080"}
xref: UMLS:C0016085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4706"}
is_a: MONDO:0004664 {source="DOID:1080", source="ICD10CM:B74", source="MESH:D005368/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:1080/inferred", source="MESH:D005368/inferred", source="MONDO:Redundant", source="NCIT:C34611", source="Orphanet:2034"} ! parasitic infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0016076
name: obsolete lymphatic filariasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/842" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005761

[Term]
id: MONDO:0016077
name: congenital aortopulmonary window
subset: gard_rare {source="GARD:738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2037"}
subset: ordo_morphological_anomaly {source="Orphanet:2037"}
subset: orphanet_rare {source="Orphanet:2037"}
subset: rare
synonym: "aorta-pulmonary artery fistula" RELATED [GARD:0000738]
synonym: "aorto-pulmonary artery fistula" RELATED [GARD:0000738]
synonym: "aortopulmonary fistula" RELATED [GARD:0000738]
synonym: "congenital aortopulmonary artery fistula" EXACT [Orphanet:2037]
synonym: "congenital aortopulmonary septal defect" EXACT [Orphanet:2037]
xref: GARD:738 {source="MONDO:GARD"}
xref: ICD10CM:Q21.4 {source="Orphanet:2037", source="Orphanet:2037/e"}
xref: icd11.foundation:1988278118 {source="Orphanet:2037", source="MONDO:equivalentTo"}
xref: MEDGEN:419119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537782 {source="Orphanet:2037", source="MONDO:equivalentTo", source="Orphanet:2037/e"}
xref: Orphanet:2037 {source="MONDO:equivalentTo"}
xref: UMLS:C2931610 {source="MEDGEN:419119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016581 {source="Orphanet:2037"} ! conotruncal heart malformations
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016078
name: congenital systemic arteriovenous fistula
subset: gard_rare {source="GARD:18758", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2039"}
subset: ordo_morphological_anomaly {source="Orphanet:2039"}
subset: orphanet_rare {source="Orphanet:2039"}
subset: rare
xref: GARD:18758 {source="MONDO:GARD"}
xref: ICD10CM:Q27.3 {source="Orphanet:2039", source="Orphanet:2039/ntbt"}
xref: MEDGEN:1679454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2039 {source="MONDO:equivalentTo"}
xref: UMLS:C5191839 {source="MEDGEN:1679454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020296 {source="Orphanet:2039"} ! congenital arteriovenous fistula

[Term]
id: MONDO:0016079
name: sporadic Creutzfeldt-Jakob disease
def: "Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD)." [Orphanet:204]
subset: gard_rare {source="GARD:6956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:204"}
subset: orphanet_rare {source="Orphanet:204"}
subset: rare
synonym: "sporadic CJD" EXACT [Orphanet:204]
xref: GARD:6956 {source="MONDO:GARD"}
xref: ICD10CM:A81.0 {source="Orphanet:204/ntbt", source="Orphanet:204"}
xref: icd11.foundation:1553463690 {source="Orphanet:204", source="MONDO:equivalentTo"}
xref: ICD9:046.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10011384 {source="Orphanet:204", source="Orphanet:204/e"}
xref: MEDGEN:377682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007562 {source="Orphanet:204", source="Orphanet:204/e"}
xref: NANDO:1200187 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:204 {source="MONDO:equivalentTo"}
xref: SCTID:713060000 {source="MONDO:equivalentTo"}
xref: UMLS:C1852467 {source="MEDGEN:377682", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007403 ! inherited Creutzfeldt-Jakob disease

[Term]
id: MONDO:0016080
name: congenital bronchobiliary fistula
def: "Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus." [Orphanet:2040]
subset: gard_rare {source="GARD:1475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2040"}
subset: ordo_morphological_anomaly {source="Orphanet:2040"}
subset: orphanet_rare {source="Orphanet:2040"}
subset: rare
xref: GARD:1475 {source="MONDO:GARD"}
xref: ICD10CM:Q32.4 {source="Orphanet:2040/ntbt", source="Orphanet:2040"}
xref: MEDGEN:930385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2040 {source="MONDO:equivalentTo"}
xref: SCTID:719452004 {source="MONDO:equivalentTo"}
xref: UMLS:C4304716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930385"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1475/congenital-bronchobiliary-fistula" xsd:anyURI {source="GARD:0001475"}

[Term]
id: MONDO:0016081
name: coronary arterial fistulas
def: "Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel." [Orphanet:2041]
subset: gard_rare {source="GARD:1533", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2041"}
subset: ordo_morphological_anomaly {source="Orphanet:2041"}
subset: orphanet_rare {source="Orphanet:2041"}
subset: rare
synonym: "Coronaro-cardiac fistula" EXACT [Orphanet:2041]
synonym: "coronary arterial malformations" EXACT [Orphanet:2041]
xref: GARD:1533 {source="MONDO:GARD"}
xref: ICD10CM:Q24.5 {source="Orphanet:2041/ntbt", source="Orphanet:2041"}
xref: MedDRA:10069441 {source="Orphanet:2041/e", source="Orphanet:2041"}
xref: MEDGEN:488822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200296 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:2041 {source="MONDO:equivalentTo"}
xref: UMLS:C0265898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488822"}
is_a: MONDO:0015203 {source="Orphanet:2041"} ! coronary artery congenital malformation

[Term]
id: MONDO:0016082
name: obsolete tracheo-esophageal fistula-hypospadias syndrome
comment: Obsolete in Orphanet
xref: ICD10CM:Q87.8 {source="Orphanet:2042/attributed", source="Orphanet:2042/ntbt", source="Orphanet:2042"}
xref: Orphanet:2042 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0008586

[Term]
id: MONDO:0016083
name: FLOTCH syndrome
def: "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported." [Orphanet:2045]
subset: gard_rare {source="GARD:2346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2045"}
subset: orphanet_rare {source="Orphanet:2045"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity" RELATED [GARD:0002346]
synonym: "leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome" EXACT [Orphanet:2045]
xref: GARD:2346 {source="MONDO:GARD"}
xref: ICD10CM:L60.8 {source="Orphanet:2045", source="Orphanet:2045/attributed", source="Orphanet:2045/ntbt"}
xref: MEDGEN:419074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537065 {source="Orphanet:2045", source="MONDO:equivalentTo", source="Orphanet:2045/e"}
xref: Orphanet:2045 {source="MONDO:equivalentTo"}
xref: UMLS:C2931411 {source="MONDO:equivalentTo", source="MEDGEN:419074", source="MONDO:MEDGEN"}
is_a: MONDO:0019296 {source="https://orcid.org/0000-0001-5208-3432"} ! subcutaneous tissue disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome" xsd:anyURI {source="GARD:0002346"}

[Term]
id: MONDO:0016084
name: obsolete Crigler-Najjar syndrome
is_obsolete: true
replaced_by: MONDO:0009044

[Term]
id: MONDO:0016085
name: Cole-Carpenter syndrome
def: "An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2050]
subset: gard_rare {source="GARD:1425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2050"}
subset: ordo_malformation_syndrome {source="Orphanet:2050"}
subset: orphanet_rare {source="Orphanet:2050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome" EXACT [Orphanet:2050]
synonym: "Cole Carpenter syndrome" RELATED [GARD:0001425]
xref: DOID:0060438 {source="MONDO:equivalentTo"}
xref: GARD:1425 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:2050", source="Orphanet:2050/attributed", source="Orphanet:2050/ntbt"}
xref: MEDGEN:350614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535963 {source="Orphanet:2050/e", source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438"}
xref: NCIT:C130985 {source="MONDO:equivalentTo"}
xref: OMIMPS:112240 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2050 {source="MONDO:equivalentTo", source="DOID:0060438"}
xref: UMLS:C1862178 {source="MEDGEN:350614", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C130985"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2050"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018230 {source="Orphanet:2050"} ! skeletal dysplasia
relationship: disease_has_feature HP:0004349 {source="Orphanet:2050"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019019 {source="DOID:0060438", source="MESH:C535963", source="https://orcid.org/0000-0001-5208-3432"} ! osteogenesis imperfecta
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2050", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:112240"} ! inherited

[Term]
id: MONDO:0016086
name: osteochondritis of tarsal/metatarsal bone
def: "A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls." [Orphanet:563991]
subset: gard_rare {source="GARD:6842", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:563991"}
subset: orphanet_rare {source="Orphanet:563991"}
subset: rare
synonym: "aseptic necrosis of the tarsal bone" EXACT [Orphanet:2054, Orphanet:563991]
synonym: "juvenile osteochondrosis of foot" EXACT [DOID:11760, ICD9CM:732.5]
synonym: "Kohler disease" EXACT [DOID:11760, Orphanet:563991]
synonym: "Kohler's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, GARD:0006842, MONDO:LexicalVariant]
synonym: "Kohler's disease of the tarsal navicular" RELATED [GARD:0006842]
synonym: "Kohler's Osteochondrosis of the tarsal navicular" RELATED [GARD:0006842]
synonym: "navicular Osteochondrosis" RELATED [GARD:0006842]
synonym: "osteochondritis of tarsal/metatarsal bone" EXACT [GARD:0006842]
synonym: "Osteochondrosis of the tarsal bone" EXACT [GARD:0006842, Orphanet:2054]
xref: DOID:11760 {source="MONDO:equivalentTo"}
xref: GARD:6842 {source="MONDO:GARD"}
xref: ICD10CM:M93.2 {source="Orphanet:2054/ntbt", source="Orphanet:2054"}
xref: ICD9:732.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11760"}
xref: MEDGEN:510539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2054 {source="GARD:0006842", source="MONDO:equivalentObsolete"}
xref: Orphanet:563991 {source="MONDO:equivalentTo"}
xref: SCTID:203392007 {source="MONDO:equivalentTo", source="DOID:11760"}
xref: SCTID:203393002 {source="DOID:11760"}
xref: SCTID:203397001 {source="DOID:11760"}
xref: SCTID:32491009 {source="DOID:11760"}
xref: UMLS:C0158444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510539"}
is_a: MONDO:0018381 {source="DOID:11760", source="Orphanet:2054"} ! osteochondrosis
relationship: disease_has_feature HP:0010885 ! Avascular necrosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6842/kohler-disease" xsd:anyURI {source="GARD:0006842"}

[Term]
id: MONDO:0016087
name: progressive non-infectious anterior vertebral fusion
def: "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." [Orphanet:2062]
subset: gard_rare {source="GARD:18759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2062"}
subset: ordo_malformation_syndrome {source="Orphanet:2062"}
subset: orphanet_rare {source="Orphanet:2062"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Copenhagen syndrome" EXACT [Orphanet:2062]
xref: GARD:18759 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2062/attributed", source="Orphanet:2062/ntbt", source="Orphanet:2062"}
xref: MEDGEN:930508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2062 {source="MONDO:equivalentTo"}
xref: SCTID:719268008 {source="MONDO:equivalentTo"}
xref: UMLS:C4304839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930508"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015161 {source="Orphanet:2062"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016088
name: hypoxanthine-guanine phosphoribosyltransferase deficiency
def: "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." [Orphanet:206428]
subset: disease_grouping
subset: gard_rare {source="GARD:2943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:206428"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPRT deficiency" EXACT [Orphanet:206428]
synonym: "HPRT1 deficiency" EXACT [Orphanet:206428]
synonym: "hypoxanthine-guanine phosphoribosyltransferase 1 deficiency" EXACT [Orphanet:206428]
xref: GARD:2943 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:206428/attributed", source="Orphanet:206428/ntbt", source="Orphanet:206428"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NANDO:2200586 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:206428 {source="MONDO:equivalentTo"}
xref: SCTID:124275001 {source="MONDO:equivalentTo"}
is_a: MONDO:0019236 {source="Orphanet:206428"} ! inborn disorder of purine metabolism
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:206428", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: excluded_subClassOf MONDO:0020112 {source="Orphanet:206428", source="https://orcid.org/0000-0001-5208-3432"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia

[Term]
id: MONDO:0016089
name: infantile Krabbe disease
subset: gard_rare {source="GARD:20343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:206436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile onset Krabbe disease" EXACT [https://orcid.org/0000-0002-0587-4693, PMID:20301416]
synonym: "infantile-onset Krabbe disease" EXACT [https://orcid.org/0000-0002-0587-4693, PMID:20301416]
synonym: "Krabbe disease, classic form" EXACT [Orphanet:206436]
synonym: "Krabbe disease, early-onset" EXACT [Orphanet:206436]
xref: GARD:20343 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:206436", source="Orphanet:206436/attributed", source="Orphanet:206436/ntbt"}
xref: MEDGEN:148270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200075 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201216 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:206436 {source="MONDO:equivalentTo"}
xref: SCTID:238030005 {source="MONDO:equivalentTo"}
xref: UMLS:C0751273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148270"}
is_a: MONDO:0009499 {source="Orphanet:206436"} ! Krabbe disease
intersection_of: MONDO:0009499 ! Krabbe disease
intersection_of: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0016090
name: late-infantile/juvenile Krabbe disease
subset: gard_rare {source="GARD:20344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:206443"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Krabbe disease, late-onset" EXACT [Orphanet:206443]
xref: GARD:20344 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:206443/attributed", source="Orphanet:206443/ntbt", source="Orphanet:206443"}
xref: Orphanet:206443 {source="MONDO:equivalentTo"}
xref: SCTID:41142009 {source="MONDO:equivalentTo"}
is_a: MONDO:0009499 {source="Orphanet:206443"} ! Krabbe disease
intersection_of: MONDO:0009499 ! Krabbe disease
intersection_of: has_characteristic HP:0003621 ! Juvenile onset

[Term]
id: MONDO:0016091
name: adult Krabbe disease
def: "A Krabbe disease that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="GARD:20345", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:206448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Krabbe disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:20345 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:206448/attributed", source="Orphanet:206448/ntbt", source="Orphanet:206448"}
xref: MEDGEN:120623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200077 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201219 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:206448 {source="MONDO:equivalentTo"}
xref: UMLS:C0268252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120623"}
is_a: MONDO:0009499 {source="MONDO:Redundant", source="Orphanet:206448"} ! Krabbe disease
is_a: MONDO:0020143 {source="Orphanet:206448"} ! cerebral lipidosis with dementia
intersection_of: MONDO:0009499 ! Krabbe disease
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0016092
name: serous or mucinous cystadenoma of childhood
def: "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation." [Orphanet:206470]
subset: gard_rare {source="GARD:20346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206470"}
subset: orphanet_rare {source="Orphanet:206470"}
subset: rare
synonym: "mucinous cystadenoma of ovary in childhood" EXACT [Orphanet:206470]
synonym: "serous cystadenoma of ovary in childhood" EXACT [Orphanet:206470]
xref: GARD:20346 {source="MONDO:GARD"}
xref: ICD10CM:D27 {source="Orphanet:206470", source="Orphanet:206470/ntbt"}
xref: MEDGEN:1803886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206470 {source="MONDO:equivalentTo"}
xref: UMLS:C5679785 {source="MEDGEN:1803886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000646 {source="Orphanet:206470"} ! ovarian benign neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare

[Term]
id: MONDO:0016093
name: borderline epithelial tumor of ovary
def: "A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion." [NCIT:P378]
subset: gard_rare {source="GARD:9363", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "borderline epithelial neoplasm of ovary" EXACT [NCIT:C4783]
synonym: "borderline epithelial neoplasm of the ovary" EXACT [NCIT:C4783]
synonym: "borderline epithelial tumor of ovary" EXACT [NCIT:C4783]
synonym: "borderline epithelial tumor of the ovary" EXACT [NCIT:C4783]
synonym: "borderline epithelial tumour of the ovary" EXACT OMO:0003005 []
synonym: "borderline ovarian epithelial neoplasm" EXACT [NCIT:C4783]
synonym: "borderline ovarian epithelial tumor" EXACT [NCIT:C4783, Orphanet:206473]
synonym: "borderline ovarian epithelial tumour" EXACT OMO:0003005 []
synonym: "borderline ovarian surface epithelial-stromal tumor" EXACT [NCIT:C4783]
synonym: "borderline ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 []
synonym: "epithelial neoplasm of ovary of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial neoplasm of the ovary of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial ovarian neoplasm of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial ovarian tumor of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial ovarian tumour of borderline malignancy" EXACT OMO:0003005 []
synonym: "epithelial tumor of ovary of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial tumor of the ovary of borderline malignancy" EXACT [NCIT:C4783]
synonym: "epithelial tumour of ovary of borderline malignancy" EXACT OMO:0003005 []
synonym: "epithelial tumour of the ovary of borderline malignancy" EXACT OMO:0003005 []
synonym: "low malignant potential ovarian tumor" EXACT [NCIT:C4783]
synonym: "low malignant potential ovarian tumour" EXACT OMO:0003005 []
synonym: "ovarian borderline malignant tumor" EXACT [NCIT:C4783]
synonym: "ovarian borderline malignant tumour" EXACT OMO:0003005 []
synonym: "ovarian low malignant potential tumor" EXACT [NCIT:C4783]
synonym: "ovarian low malignant potential tumour" EXACT OMO:0003005 []
synonym: "ovarian tum. of low malig. poten." EXACT [NCIT:C4783]
synonym: "ovarian tumor of low malignant potential" EXACT [Orphanet:206473]
synonym: "ovarian tumors of low malignant potential" EXACT [NCIT:C4783]
synonym: "ovarian tumour of low malignant potential" EXACT OMO:0003005 []
synonym: "ovarian tumours of low malignant potential" EXACT OMO:0003005 []
xref: EFO:1000140 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9363 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:206473/ntbt", source="Orphanet:206473"}
xref: MEDGEN:777110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4783 {source="MONDO:equivalentTo"}
xref: Orphanet:206473 {source="MONDO:equivalentTo"}
xref: SCTID:764791008 {source="MONDO:equivalentTo"}
xref: UMLS:C3665489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777110"}
is_a: MONDO:0002229 {source="NCIT:C4783"} ! ovarian epithelial tumor
relationship: excluded_subClassOf MONDO:0018364 {source="Orphanet:206473", source="https://github.com/monarch-initiative/mondo/issues/454", source="https://orcid.org/0000-0001-5208-3432"} ! malignant epithelial tumor of ovary
relationship: has_characteristic PATO:0002132 ! neoplastic, non-invasive

[Term]
id: MONDO:0016094
name: vaginal germ cell malignant tumor
def: "A malignant germ cell tumor that involves the vagina." [MONDO:patterns/location]
subset: gard_rare {source="GARD:20347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206489"}
subset: orphanet_rare {source="Orphanet:206489"}
subset: rare
synonym: "malignant germ cell tumor of the vagina" RELATED [Orphanet:206489]
synonym: "malignant germ cell tumour of the vagina" RELATED OMO:0003005 []
synonym: "vagina malignant germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "vagina malignant germ cell tumour" EXACT OMO:0003005 []
synonym: "vaginal germ cell cancer" EXACT [Orphanet:206489]
xref: GARD:20347 {source="MONDO:GARD"}
xref: ICD10CM:C52 {source="Orphanet:206489/ntbt", source="Orphanet:206489"}
xref: MEDGEN:1670250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206489 {source="MONDO:equivalentTo"}
xref: UMLS:C4749402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670250"}
is_a: MONDO:0021148 {source="MONDO:0015876-obsoleted"} ! female reproductive system neoplasm
intersection_of: MONDO:0006290 ! malignant germ cell tumor
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0016095
name: vaginal rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina." [NCIT:C128080]
subset: gard_rare {source="GARD:20348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206492"}
subset: orphanet_rare {source="Orphanet:206492"}
subset: rare
synonym: "rhabdomyosarcoma (disease) of vagina" EXACT []
synonym: "vagina rhabdomyosarcoma" EXACT []
synonym: "vagina rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "vaginal rhabdomyosarcoma" EXACT [NCIT:C128080]
synonym: "vulvovaginal rhabdomyosarcoma" RELATED [Orphanet:206492]
xref: GARD:20348 {source="MONDO:GARD"}
xref: ICD10CM:C52 {source="Orphanet:206492", source="Orphanet:206492/ntbt"}
xref: MEDGEN:925567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128080 {source="MONDO:equivalentTo"}
xref: Orphanet:206492 {source="MONDO:equivalentTo"}
xref: SCTID:766759009 {source="MONDO:equivalentTo"}
xref: UMLS:C4288035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:925567"}
is_a: MONDO:0005212 {source="MONDO:Redundant", source="NCIT:C128080"} ! rhabdomyosarcoma
is_a: MONDO:0021148 {source="MONDO:0015876-obsoleted"} ! female reproductive system neoplasm
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0016096
name: malignant non-dysgerminomatous germ cell tumor of ovary
def: "A malignant germ cell tumor other than dysgerminoma that arises from the ovary." [NCIT:C102870]
subset: gard_rare {source="GARD:20349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206538"}
subset: orphanet_rare {source="Orphanet:206538"}
subset: rare
synonym: "non-dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:206538]
synonym: "ovarian non-dysgerminomatous germ cell tumor" EXACT [NCIT:C102870]
synonym: "ovarian non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "ovarian nondysgerm. GCT, NOS" RELATED EXCLUDE [NCIT:C102870]
synonym: "ovarian Nondysgerminomatous germ cell tumor" EXACT [NCIT:C102870]
synonym: "ovarian nondysgerminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C102870]
synonym: "ovarian Nondysgerminomatous germ cell tumour" EXACT OMO:0003005 []
xref: GARD:20349 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:206538/ntbt", source="Orphanet:206538"}
xref: MEDGEN:1826164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C102870 {source="MONDO:equivalentTo"}
xref: Orphanet:206538 {source="MONDO:equivalentTo"}
xref: UMLS:C5679783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826164"}
is_a: MONDO:0003408 {source="NCIT:C102870"} ! ovarian primitive germ cell tumor
is_a: MONDO:0018171 {source="MONDO:Redundant", source="NCIT:C102870/inferred", source="Orphanet:206538"} ! malignant germ cell tumor of ovary
is_a: MONDO:0021656 {source="MONDO:Redundant", source="NCIT:C102870"} ! nongerminomatous germ cell tumor
intersection_of: MONDO:0021656 ! nongerminomatous germ cell tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0016097
name: symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
def: "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." [Orphanet:206546]
subset: gard_rare {source="GARD:20350", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206546"}
subset: orphanet_rare {source="Orphanet:206546"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20350 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:206546", source="Orphanet:206546/attributed", source="Orphanet:206546/ntbt"}
xref: MEDGEN:1631985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206546 {source="MONDO:equivalentTo"}
xref: SCTID:765197008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631985"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0016106 {source="PMID:25037084", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0009-0001-6494-4831"} ! progressive muscular dystrophy
is_a: MONDO:0016333 {source="https://orcid.org/0000-0002-3458-4839"} ! familial dilated cardiomyopathy
is_a: MONDO:0019056 {source="https://orcid.org/0000-0002-3458-4839"} ! neuromuscular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016098
name: immune-mediated necrotizing myopathy
def: "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation." [Orphanet:206569]
subset: gard_rare {source="GARD:20351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206569"}
subset: orphanet_rare {source="Orphanet:206569"}
subset: rare
synonym: "anti-HMG-CoA myopathy" EXACT [Orphanet:206569]
synonym: "anti-SRP myopathy" EXACT [Orphanet:206569]
synonym: "autoimmune necrotizing myositis" EXACT [Orphanet:206569]
synonym: "immune myopathy with myocyte necrosis" EXACT [Orphanet:206569]
synonym: "IMNM" EXACT ABBREVIATION [Orphanet:206569]
synonym: "NAM" EXACT ABBREVIATION [Orphanet:206569]
synonym: "necrotizing autoimmune myopathy" RELATED [GARD:0013307]
xref: GARD:20351 {source="MONDO:GARD"}
xref: ICD10CM:G72.4 {source="Orphanet:206569/ntbt", source="Orphanet:206569"}
xref: MEDGEN:899492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206569 {source="MONDO:equivalentTo"}
xref: SCTID:715863001 {source="MONDO:equivalentTo"}
xref: UMLS:C3267047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899492"}
is_a: MONDO:0020122 {source="Orphanet:206569"} ! acquired idiopathic inflammatory myopathy

[Term]
id: MONDO:0016099
name: overlap myositis
def: "Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature." [Orphanet:206572]
subset: gard_rare {source="GARD:20352", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206572"}
subset: orphanet_rare {source="Orphanet:206572"}
subset: rare
synonym: "adult-onset overlap myositis" EXACT [Orphanet:206572]
synonym: "non-specific myositis" EXACT [Orphanet:206572]
xref: GARD:20352 {source="MONDO:GARD"}
xref: MEDGEN:1814440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206572 {source="MONDO:equivalentTo"}
xref: UMLS:C5679784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814440"}
is_a: MONDO:0020122 {source="Orphanet:206572"} ! acquired idiopathic inflammatory myopathy

[Term]
id: MONDO:0016100
name: rippling muscle disease with myasthenia gravis
subset: gard_rare {source="GARD:20353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206575"}
subset: orphanet_rare {source="Orphanet:206575"}
subset: rare
synonym: "acquired rippling muscle disease" BROAD [Orphanet:206575]
synonym: "immune-mediated rippling muscle disease" EXACT [Orphanet:206575]
synonym: "Rmd-MG" EXACT [PMID:14694511]
xref: GARD:20353 {source="MONDO:GARD"}
xref: ICD10CM:G70.8 {source="Orphanet:206575/ntbt", source="Orphanet:206575"}
xref: MEDGEN:1657345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206575 {source="MONDO:equivalentTo"}
xref: UMLS:C4749335 {source="MONDO:equivalentTo", source="MEDGEN:1657345", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0021142 ! acquired rippling muscle disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0016101
name: neurolymphomatosis
def: "A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." [MESH:D008380]
subset: gard_rare {source="GARD:20354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206586"}
subset: orphanet_rare {source="Orphanet:206586"}
subset: rare
synonym: "fowl paralyses" RELATED OMO:0003005 []
synonym: "fowl paralysis" RELATED [GARD:0006974]
synonym: "fowl paralyzes" RELATED [GARD:0006974]
synonym: "Marek disease" RELATED [GARD:0006974]
synonym: "Marek's disease" RELATED [GARD:0006974]
xref: GARD:20354 {source="MONDO:GARD"}
xref: MEDGEN:1642312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000077162 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: MESH:D008380 {source="MONDO:equivalentTo"}
xref: Orphanet:206586 {source="MONDO:equivalentTo"}
xref: SCTID:766752000 {source="MONDO:equivalentTo"}
xref: UMLS:C4553088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642312"}
is_a: MONDO:0005108 {source="https://orcid.org/0000-0001-5208-3432"} ! viral infectious disease

[Term]
id: MONDO:0016102
name: subacute inflammatory demyelinating polyneuropathy
def: "A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)." [Orphanet:206594]
subset: gard_rare {source="GARD:20355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206594"}
subset: orphanet_rare {source="Orphanet:206594"}
subset: rare
synonym: "SIDP" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:206594]
xref: GARD:20355 {source="MONDO:GARD"}
xref: ICD10CM:G61.8 {source="Orphanet:206594/ntbt", source="Orphanet:206594"}
xref: icd11.foundation:1692167541 {source="MONDO:equivalentTo", source="Orphanet:206594"}
xref: MEDGEN:629329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206594 {source="MONDO:equivalentTo"}
xref: SCTID:277189006 {source="MONDO:equivalentTo"}
xref: UMLS:C0456517 {source="MEDGEN:629329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003334 {source="Orphanet:206594"} ! demyelinating polyneuropathy
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0016103
name: isolated asymptomatic elevation of creatine phosphokinase
def: "Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle." [https://ghr.nlm.nih.gov/condition/isolated-hyperckemia]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_biological_anomaly {source="Orphanet:206599"}
subset: ordo_disorder {source="Orphanet:206599"}
subset: orphanet_rare {source="Orphanet:206599"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperCKmia" EXACT [NCIT:C148327]
synonym: "idiopathic asymptomatic hyperCKemia" EXACT [Orphanet:206599]
synonym: "isolated asymptomatic hyperCKemia" EXACT [Orphanet:206599]
synonym: "isolated hyperCKemia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1385/]
xref: DOID:0111338 {source="MONDO:equivalentTo"}
xref: MEDGEN:1668524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C148327 {source="MONDO:equivalentTo"}
xref: Orphanet:206599 {source="MONDO:equivalentTo"}
xref: UMLS:C4751434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1668524"}
is_a: MONDO:0016146 {source="Orphanet:206599", source="https://www.ncbi.nlm.nih.gov/books/NBK1385/"} ! caveolinopathy
is_a: MONDO:0016147 {source="Orphanet:206599"} ! qualitative or quantitative defects of dystrophin
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="Orphanet:206599"} ! CAV3

[Term]
id: MONDO:0016104
name: obsolete infectious disease with peripheral neuropathy
def: "OBSOLETE. An infectious process affecting the peripheral nerves." [NCIT:C27589]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: infectious disease'
subset: ordo_group_of_disorders {source="Orphanet:206613"}
synonym: "peripheral nerve infection" EXACT [NCIT:C27589]
synonym: "peripheral nervous system infectious disorder" EXACT [NCIT:C27589]
xref: GARD:20357 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C27589 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:206613 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005550

[Term]
id: MONDO:0016105
name: acquired skeletal muscle disease
def: "An instance of skeletal muscle disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:206638"}
synonym: "acquired skeletal muscle disease" EXACT [MONDO:patterns/acquired]
xref: MEDGEN:1842576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206638 {source="MONDO:equivalentTo"}
xref: UMLS:C5680799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842576"}
is_a: MONDO:0020120 {source="MONDO:Redundant", source="Orphanet:206638"} ! skeletal muscle disorder
intersection_of: MONDO:0020120 ! skeletal muscle disorder
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0016106
name: progressive muscular dystrophy
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:20360", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:206644"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "progressive muscular dystrophy" EXACT CLINGEN_LABEL []
xref: GARD:20360 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:206644", source="Orphanet:206644/attributed", source="Orphanet:206644/ntbt"}
xref: MEDGEN:1633060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206644 {source="MONDO:equivalentTo"}
xref: UMLS:C4551827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633060"}
is_a: MONDO:0020121 {source="Orphanet:206644"} ! muscular dystrophy

[Term]
id: MONDO:0016107
name: myotonic dystrophy
def: "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies." [NCIT:C84914]
subset: disease_grouping
subset: gard_rare {source="GARD:10419", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:206647"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inherited myotonic dystrophy" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "myotonia atrophica" RELATED [GARD:0010419]
synonym: "myotonia dystrophica" RELATED [GARD:0010419]
synonym: "myotonic disease" RELATED [DOID:450]
xref: DOID:450 {source="MONDO:equivalentTo"}
xref: GARD:10419 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:206647", source="Orphanet:206647/attributed", source="Orphanet:206647/ntbt", source="DOID:450"}
xref: icd11.foundation:192087511 {source="Orphanet:206647", source="MONDO:equivalentTo"}
xref: ICD9:359.2 {source="DOID:450"}
xref: MedDRA:10068871 {source="Orphanet:206647", source="Orphanet:206647/e"}
xref: MEDGEN:10239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009223 {source="Orphanet:206647", source="MONDO:equivalentTo", source="Orphanet:206647/e"}
xref: MESH:D020967 {source="DOID:450"}
xref: NANDO:1200495 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200864 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84913 {source="DOID:450"}
xref: NCIT:C84914 {source="MONDO:equivalentTo"}
xref: OMIMPS:160900 {source="MONDO:equivalentTo"}
xref: Orphanet:206647 {source="MONDO:equivalentTo"}
xref: SCTID:155096007 {source="DOID:450"}
xref: SCTID:193237003 {source="DOID:450"}
xref: SCTID:193240003 {source="DOID:450"}
xref: SCTID:240104008 {source="MONDO:equivalentTo"}
xref: SCTID:267713009 {source="DOID:450"}
xref: UMLS:C0027126 {source="MEDGEN:10239", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016106 {source="Orphanet:206647"} ! progressive muscular dystrophy
is_a: MONDO:0016120 {source="Orphanet:206647"} ! myotonic syndrome
is_a: MONDO:0020121 {source="DOID:450", source="MESH:D009223", source="MONDO:Redundant", source="NCIT:C84914", source="Orphanet:206647", source="Orphanet:206647/inferred"} ! muscular dystrophy
relationship: disease_disrupts GO:0043484 {source="PMID:19909263"} ! regulation of RNA splicing
relationship: disease_has_basis_in_disruption_of GO:0003723 {source="PMID:19909263"} ! RNA binding
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:160900"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0016108
name: autosomal dominant distal myopathy
def: "Autosomal dominant form of distal myopathy." [MONDO:patterns/autosomal_dominant]
subset: disease_grouping
subset: gard_rare {source="GARD:20361", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:206650"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal myopathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:20361 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:206650", source="Orphanet:206650/attributed", source="Orphanet:206650/ntbt"}
xref: MEDGEN:1826097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206650 {source="MONDO:equivalentTo"}
xref: UMLS:C5680803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826097"}
is_a: MONDO:0018949 {source="MONDO:Redundant", source="Orphanet:206650"} ! distal myopathy
intersection_of: MONDO:0018949 ! distal myopathy
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0016109
name: obsolete autosomal recessive distal myopathy
def: "OBSOLETE. Autosomal recessive form of distal myopathy." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:206653"}
synonym: "distal myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:20362 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.0 {source="Orphanet:206653/attributed", source="Orphanet:206653/ntbt", source="Orphanet:206653"}
xref: Orphanet:206653 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016110
name: obsolete non-dystrophic myopathy
def: "OBSOLETE. A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness." [NCIT:C122787]
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:206656"}
synonym: "non dystrophic myotonia" EXACT [NCIT:C122787]
synonym: "non-dystrophic myotonia" EXACT [NCIT:C122787]
xref: GARD:20363 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:1200496 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122787 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:206656 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:424795008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5045" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016111
name: obsolete non-dystrophic myopathy with collagen 6 anomaly
comment: Obsolete in Orphanet
xref: Orphanet:206659 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0016112
name: hereditary inclusion-body myopathy
subset: disease_grouping
subset: gard_rare {source="GARD:20364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:206662"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cytoplasmic body myopathy" RELATED [GARD:0001658]
synonym: "inclusion myopathy" EXACT [Orphanet:206662]
xref: GARD:20364 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:206662/attributed", source="Orphanet:206662/ntbt", source="Orphanet:206662"}
xref: MEDGEN:1843174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206662 {source="MONDO:equivalentTo"}
xref: UMLS:C5680794 {source="MEDGEN:1843174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
relationship: has_characteristic MONDO:0021152 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy" xsd:anyURI {source="GARD:0001658"}

[Term]
id: MONDO:0016113
name: bulbospinal muscular atrophy
subset: disease_grouping
subset: gard_rare {source="GARD:20365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:206701"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bulbospinal muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy]
synonym: "SBMA" EXACT ABBREVIATION [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy]
synonym: "spinal and bulbal muscular atrophy" EXACT [Wikipedia:Spinal_and_bulbar_muscular_atrophy]
synonym: "spinal-bulbar muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy]
xref: GARD:20365 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:206701/attributed", source="Orphanet:206701/ntbt", source="Orphanet:206701"}
xref: MEDGEN:95977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200001 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:206701 {source="MONDO:equivalentTo"}
xref: SCTID:230253001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393547 {source="MONDO:equivalentTo", source="MEDGEN:95977", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="https://orcid.org/0000-0001-5208-3432"} ! spinal muscular atrophy
is_a: MONDO:0020128 {source="Orphanet:206701", source="Orphanet:206701/inferred"} ! motor neuron disorder

[Term]
id: MONDO:0016114
name: obsolete bulbospinal muscular atrophy of childhood
def: "OBSOLETE. A bulbospinal muscular atrophy that occurs during childhood." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:206704"}
synonym: "bulbospinal muscular atrophy of childhood" EXACT [MONDO:patterns/childhood]
synonym: "childhood bulbospinal muscular atrophy" EXACT [MONDO:design_pattern]
synonym: "paediatric bulbospinal muscular atrophy" EXACT OMO:0003005 []
synonym: "pediatric bulbospinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: GARD:20366 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G12.2 {source="Orphanet:206704/attributed", source="Orphanet:206704/ntbt", source="Orphanet:206704"}
xref: Orphanet:206704 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016115
name: obsolete bulbospinal muscular atrophy of adulthood
def: "OBSOLETE. A bulbospinal muscular atrophy that occurs in an adult." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:206707"}
synonym: "adult bulbospinal muscular atrophy" EXACT [MONDO:design_pattern]
synonym: "bulbospinal muscular atrophy of adult" RELATED [Orphanet:206707]
synonym: "bulbospinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:20367 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G12.2 {source="Orphanet:206707", source="Orphanet:206707/attributed", source="Orphanet:206707/ntbt"}
xref: Orphanet:206707 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016116
name: obsolete generalized bulbospinal muscular atrophy
subset: ordo_group_of_disorders {source="Orphanet:206710"}
xref: GARD:20368 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G12.2 {source="Orphanet:206710", source="Orphanet:206710/attributed", source="Orphanet:206710/ntbt"}
xref: Orphanet:206710 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016117
name: obsolete muscular lipidosis
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:206953"}
synonym: "lipid storage myopathy" EXACT [Orphanet:206953]
xref: GARD:20369 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:206953 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:240095001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016118
name: obsolete muscular glycogenosis
comment: Reason of obsoletion: grouping class - MONDO:excludeGrouping. Term to consider: -none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:206959"}
synonym: "glycogen storage myopathy" EXACT [Orphanet:206959]
xref: GARD:20370 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:206959", source="Orphanet:206959/attributed", source="Orphanet:206959/ntbt"}
xref: NANDO:1200823 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:206959 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016119
name: obsolete mitochondrial myopathy
is_obsolete: true
replaced_by: MONDO:0009637

[Term]
id: MONDO:0016120
name: myotonic syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:20372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:206970"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20372 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:206970/specific", source="Orphanet:206970/e", source="Orphanet:206970"}
xref: MedDRA:10028658 {source="Orphanet:206970/e", source="Orphanet:206970"}
xref: MEDGEN:107510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020967 {source="Orphanet:206970/e", source="MONDO:equivalentTo", source="Orphanet:206970"}
xref: Orphanet:206970 {source="MONDO:equivalentTo"}
xref: UMLS:C0553604 {source="MEDGEN:107510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003939 {source="MESH:D020967"} ! muscle tissue disorder
is_a: MONDO:0020120 {source="Orphanet:206970"} ! skeletal muscle disorder
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_major_feature HP:0002486 ! Myotonia

[Term]
id: MONDO:0016121
name: obsolete congenital myotonia
subset: ordo_group_of_disorders {source="Orphanet:206973"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20373 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.1 {source="Orphanet:206973/ntbt", source="Orphanet:206973/inclusion", source="Orphanet:206973"}
xref: icd11.foundation:1916703439 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:206973"}
xref: Orphanet:206973 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016122
name: periodic paralysis
comment: Editor note: classified as genetic in ORDO but we treat as neutral here
subset: disease_grouping
subset: gard_rare {source="GARD:20374", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:206976"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "periodic paralysis" EXACT [MONDO:ambiguous]
synonym: "periodic paralysis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20374 {source="MONDO:GARD"}
xref: HP:0003768 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G72.3 {source="Orphanet:206976", source="Orphanet:206976/e"}
xref: icd11.foundation:577112387 {source="Orphanet:206976", source="MONDO:equivalentTo"}
xref: MedDRA:10016208 {source="Orphanet:206976", source="Orphanet:206976/e"}
xref: MEDGEN:488958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010245 {source="MONDO:relatedTo", source="Orphanet:206976", source="Orphanet:206976/e"}
xref: Orphanet:206976 {source="MONDO:equivalentTo"}
xref: UMLS:C1279412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488958"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0020120 {source="Orphanet:206976", source="Orphanet:206976/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal muscle disorder
property_value: IAO:0000589 "periodic paralysis (disease)" xsd:string

[Term]
id: MONDO:0016123
name: obsolete muscular tumor
comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. Term to consider: muscle cancer'-MONDO:0005864\n\nEditor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:206982"}
xref: GARD:20375 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:206982 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0016105 {source="Orphanet:206982", source="https://orcid.org/0000-0001-5208-3432"} ! acquired skeletal muscle disease
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI
is_obsolete: true
consider: MONDO:0005864

[Term]
id: MONDO:0016124
name: obsolete drug and/or toxic myopathy
comment: Obsolete in Orphanet
xref: Orphanet:206985 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0016105

[Term]
id: MONDO:0016125
name: obsolete infectious, fungal or parasitic myopathy
subset: ordo_group_of_disorders {source="Orphanet:206988"}
xref: GARD:20376 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:M60.0 {source="Orphanet:206988", source="Orphanet:206988/e"}
xref: Orphanet:206988 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016126
name: viral myositis
subset: gard_rare {source="GARD:20377", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:206991"}
subset: orphanet_rare {source="Orphanet:206991"}
subset: rare
xref: GARD:20377 {source="MONDO:GARD"}
xref: ICD10CM:M60.0 {source="Orphanet:206991", source="Orphanet:206991/ntbt"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10051512 {source="Orphanet:206991/e", source="Orphanet:206991"}
xref: MEDGEN:508472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206991 {source="MONDO:equivalentTo"}
xref: SCTID:240105009 {source="MONDO:equivalentTo"}
xref: UMLS:C0150005 {source="MEDGEN:508472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue

[Term]
id: MONDO:0016127
name: bacterial myositis
subset: gard_rare {source="GARD:20378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:206994"}
subset: orphanet_rare {source="Orphanet:206994"}
subset: rare
xref: GARD:20378 {source="MONDO:GARD"}
xref: ICD10CM:M60.0 {source="Orphanet:206994/ntbt", source="Orphanet:206994"}
xref: MEDGEN:538237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206994 {source="MONDO:equivalentTo"}
xref: SCTID:30330001 {source="MONDO:equivalentTo"}
xref: UMLS:C0263979 {source="MEDGEN:538237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria
intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue

[Term]
id: MONDO:0016128
name: parasitic myositis
subset: disease_grouping
subset: gard_rare {source="GARD:20379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:206997"}
subset: rare
xref: GARD:20379 {source="MONDO:GARD"}
xref: ICD10CM:M60.0 {source="Orphanet:206997", source="Orphanet:206997/ntbt"}
xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:538249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:206997 {source="MONDO:equivalentTo"}
xref: SCTID:60970005 {source="MONDO:equivalentTo"}
xref: UMLS:C0263997 {source="MEDGEN:538249", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="https://orcid.org/0000-0002-4142-7153"} ! parasitic infectious disease
is_a: MONDO:0021167 {source="PMID:21881948", source="PMID:34043257", source="https://orcid.org/0009-0001-6494-4831"} ! myositis disease
is_a: MONDO:0023483 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! infectious myositis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0016129
name: eosinophilic gastroenteritis
def: "Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall." [Orphanet:2070]
subset: gard_rare {source="GARD:9142", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1097", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2070"}
subset: orphanet_rare {source="Orphanet:2070"}
subset: rare
synonym: "EGE" EXACT ABBREVIATION [Orphanet:2070]
synonym: "eosinophilic enteritis" EXACT [Orphanet:2070]
synonym: "eosinophilic gastroenteritis" EXACT [DOID:4031, NCIT:C35330]
synonym: "eosinophilic gastroenterocolitis" EXACT [Orphanet:2070]
xref: DOID:4031 {source="MONDO:equivalentTo"}
xref: GARD:9142 {source="MONDO:GARD"}
xref: ICD10CM:K52.8 {source="Orphanet:2070", source="Orphanet:2070/ntbt"}
xref: ICD9:558.41 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:4031"}
xref: MedDRA:10017902 {source="Orphanet:2070", source="Orphanet:2070/e"}
xref: MEDGEN:220382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535952 {source="Orphanet:2070", source="DOID:4031", source="Orphanet:2070/e"}
xref: NANDO:1200457 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35330 {source="MONDO:equivalentTo", source="DOID:4031"}
xref: NORD:1097 {source="MONDO:NORD"}
xref: Orphanet:2070 {source="MONDO:equivalentTo"}
xref: SCTID:32183007 {source="DOID:4031"}
xref: SCTID:359804008 {source="MONDO:equivalentTo", source="DOID:4031"}
xref: SCTID:68270003 {source="DOID:4031"}
xref: UMLS:C1262481 {source="MEDGEN:220382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002269 {source="DOID:4031", source="NCIT:C35330"} ! gastroenteritis
is_a: MONDO:0018438 {source="Orphanet:2070"} ! eosinophilic gastrointestinal disease
intersection_of: MONDO:0018438 ! eosinophilic gastrointestinal disease
intersection_of: disease_has_inflammation_site UBERON:0000160 ! intestine

[Term]
id: MONDO:0016130
name: fungal myositis
subset: gard_rare {source="GARD:20380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:207000"}
subset: orphanet_rare {source="Orphanet:207000"}
subset: rare
xref: GARD:20380 {source="MONDO:GARD"}
xref: ICD10CM:M60.0 {source="Orphanet:207000", source="Orphanet:207000/ntbt"}
xref: MEDGEN:592951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207000 {source="MONDO:equivalentTo"}
xref: SCTID:240111007 {source="MONDO:equivalentTo"}
xref: UMLS:C0410251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:592951"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue

[Term]
id: MONDO:0016131
name: obsolete spinal muscular atrophy associated with central nervous system anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:207012"}
xref: GARD:20381 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207012 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0016132
name: obsolete rare hereditary disease with peripheral neuropathy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:207015"}
xref: GARD:12733 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207015 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016133
name: obsolete rare hereditary metabolic disease with peripheral neuropathy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:207018"}
xref: GARD:20382 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207018 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016134
name: obsolete rare hereditary systemic disease with peripheral neuropathy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:207021"}
xref: GARD:20383 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207021 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016135
name: obsolete rare hereditary neurologic disease with peripheral neuropathy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:207025"}
xref: GARD:20384 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207025 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016136
name: obsolete cerebellar ataxia with peripheral neuropathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: cerebellar ataxia'
subset: ordo_group_of_disorders {source="Orphanet:207028"}
xref: GARD:20385 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G60.2 {source="Orphanet:207028/specific", source="Orphanet:207028/e", source="Orphanet:207028"}
xref: Orphanet:207028 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0000437

[Term]
id: MONDO:0016137
name: obsolete acute and subacute inflammatory demyelinating polyneuropathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired peripheral neuropathy'
subset: ordo_group_of_disorders {source="Orphanet:207038"}
synonym: "acute and subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:207038]
xref: GARD:20386 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207038 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015923

[Term]
id: MONDO:0016138
name: obsolete malignant lymphoma with peripheral neuropathy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:207046"}
xref: GARD:20387 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207046 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0016139
name: qualitative or quantitative protein defects in neuromuscular diseases
subset: disease_grouping
subset: gard_rare {source="GARD:20388", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207049"}
subset: rare
xref: GARD:20388 {source="MONDO:GARD"}
xref: MEDGEN:1842598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207049 {source="MONDO:equivalentTo"}
xref: UMLS:C5680807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842598"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016140
name: sarcoglycanopathy
def: "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency." [MESH:D058088]
subset: disease_grouping
subset: gard_rare {source="GARD:20389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207052"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "qualitative or quantitative defects of sarcoglycan" EXACT [Orphanet:207052]
xref: GARD:20389 {source="MONDO:GARD"}
xref: MEDGEN:424705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058088 {source="MONDO:equivalentTo"}
xref: Orphanet:207052 {source="MONDO:equivalentTo"}
xref: UMLS:C2936331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424705"}
is_a: MONDO:0016139 {source="Orphanet:207052"} ! qualitative or quantitative protein defects in neuromuscular diseases
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0016012 ! sarcoglycan complex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016141
name: qualitative or quantitative defects of alpha-sarcoglycan
subset: disease_grouping
subset: gard_rare {source="GARD:20390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207060"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-sarcoglycanopathy" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20390 {source="MONDO:GARD"}
xref: MEDGEN:1842296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207060 {source="MONDO:equivalentTo"}
xref: UMLS:C5680808 {source="MEDGEN:1842296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016140 {source="Orphanet:207060"} ! sarcoglycanopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10805 {source="Orphanet:207060"} ! SGCA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016142
name: qualitative or quantitative defects of beta-sarcoglycan
subset: disease_grouping
subset: gard_rare {source="GARD:20391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "beta-sarcoglycanopathy" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20391 {source="MONDO:GARD"}
xref: HGNC:10806 {source="GARD:0000870", source="MONDO:otherHierarchy"}
xref: MEDGEN:418943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535435 {source="MONDO:equivalentTo"}
xref: Orphanet:207063 {source="MONDO:equivalentTo"}
xref: UMLS:C2930900 {source="MEDGEN:418943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016140 {source="Orphanet:207063"} ! sarcoglycanopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10806 {source="Orphanet:207063"} ! SGCB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016143
name: qualitative or quantitative defects of gamma-sarcoglycan
subset: disease_grouping
subset: gard_rare {source="GARD:20392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207067"}
subset: rare
synonym: "gamma-sarcoglycanopathy" NARROW [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20392 {source="MONDO:GARD"}
xref: MEDGEN:1842385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207067 {source="MONDO:equivalentTo"}
xref: UMLS:C5680805 {source="MEDGEN:1842385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016140 {source="Orphanet:207067"} ! sarcoglycanopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10809 {source="Orphanet:207067"} ! SGCG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016144
name: qualitative or quantitative defects of delta-sarcoglycan
subset: disease_grouping
subset: gard_rare {source="GARD:20393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207070"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "delta-sarcoglycanopathy" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:20393 {source="MONDO:GARD"}
xref: MEDGEN:1826098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207070 {source="MONDO:equivalentTo"}
xref: UMLS:C5680806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826098"}
is_a: MONDO:0016140 {source="Orphanet:207070"} ! sarcoglycanopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10807 {source="Orphanet:207070"} ! SGCD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016145
name: qualitative or quantitative defects of dysferlin
subset: disease_grouping
subset: gard_rare {source="GARD:2003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207073"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysferlinopathy" EXACT [Orphanet:207073]
xref: GARD:2003 {source="MONDO:GARD"}
xref: MEDGEN:419874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537995 {source="MONDO:equivalentTo"}
xref: Orphanet:207073 {source="MONDO:equivalentTo"}
xref: UMLS:C2931687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419874"}
is_a: MONDO:0016139 {source="Orphanet:207073"} ! qualitative or quantitative protein defects in neuromuscular diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="Orphanet:207073"} ! DYSF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016146
name: caveolinopathy
def: "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" [https://www.ncbi.nlm.nih.gov/books/NBK1385/]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:20394", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:207078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "qualitative or quantitative defects of caveolin-3" EXACT [Orphanet:207078]
xref: GARD:20394 {source="MONDO:GARD"}
xref: MEDGEN:1826055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207078 {source="MONDO:equivalentTo"}
xref: UMLS:C5679790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826055"}
is_a: MONDO:0003939 {source="https://orcid.org/0000-0001-5208-3432"} ! muscle tissue disorder
is_a: MONDO:0016139 {source="Orphanet:207078"} ! qualitative or quantitative protein defects in neuromuscular diseases
relationship: disease_has_basis_in_dysfunction_of GO:0005901 ! caveola
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="Orphanet:207078"} ! CAV3

[Term]
id: MONDO:0016147
name: qualitative or quantitative defects of dystrophin
subset: disease_grouping
subset: gard_rare {source="GARD:2031", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystrophinopathy" EXACT [Orphanet:207085]
xref: GARD:2031 {source="MONDO:GARD"}
xref: MEDGEN:1826053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200487 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:207085 {source="MONDO:equivalentTo"}
xref: UMLS:C5679787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826053"}
is_a: MONDO:0016139 {source="Orphanet:207085"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016148
name: obsolete qualitative or quantitative defects of collagen 6
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3573" xsd:anyURI
is_obsolete: true
consider: MONDO:0016139

[Term]
id: MONDO:0016149
name: obsolete qualitative or quantitative defects of merosin
subset: ordo_group_of_disorders {source="Orphanet:207094"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20396 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207094 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016150
name: obsolete qualitative or quantitative defects of integrin alpha-7
subset: ordo_group_of_disorders {source="Orphanet:207098"}
synonym: "integrinopathy" EXACT [Orphanet:207098]
xref: GARD:20397 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207098 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016151
name: qualitative or quantitative defects of perlecan
subset: disease_grouping
subset: gard_rare {source="GARD:20398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207101"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20398 {source="MONDO:GARD"}
xref: MEDGEN:1842752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207101 {source="MONDO:equivalentTo"}
xref: UMLS:C5680831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842752"}
is_a: MONDO:0016139 {source="Orphanet:207101"} ! qualitative or quantitative protein defects in neuromuscular diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5273 {source="Orphanet:207101"} ! HSPG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016152
name: obsolete qualitative or quantitative defects of calpain
subset: ordo_group_of_disorders {source="Orphanet:207104"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20399 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207104 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016153
name: qualitative or quantitative defects of TRIM32
subset: disease_grouping
subset: gard_rare {source="GARD:20400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207107"}
subset: rare
xref: GARD:20400 {source="MONDO:GARD"}
xref: MEDGEN:1843261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207107 {source="MONDO:equivalentTo"}
xref: UMLS:C5680829 {source="MEDGEN:1843261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016139 {source="Orphanet:207107"} ! qualitative or quantitative protein defects in neuromuscular diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16380 ! TRIM32
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016154
name: obsolete qualitative or quantitative defects of myotubularin
subset: ordo_group_of_disorders {source="Orphanet:207110"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20401 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207110 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016155
name: qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
subset: disease_grouping
subset: gard_rare {source="GARD:20402", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207113"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "secondary alpha-dystroglycanopathy" EXACT [Orphanet:207113]
synonym: "secondary dystroglycanopathy" EXACT [Orphanet:207113]
xref: GARD:20402 {source="MONDO:GARD"}
xref: MEDGEN:1842564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207113 {source="MONDO:equivalentTo"}
xref: UMLS:C5679795 {source="MEDGEN:1842564", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017741 ! disorder of protein O-glycosylation
is_a: MONDO:0018282 {source="Orphanet:207113"} ! qualitative or quantitative defects of alpha-dystroglycan
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016156
name: qualitative or quantitative defects of FKRP
subset: disease_grouping
subset: gard_rare {source="GARD:20403", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:207119"}
subset: rare
xref: GARD:20403 {source="MONDO:GARD"}
xref: MEDGEN:1842706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:207119 {source="MONDO:equivalentTo"}
xref: UMLS:C5680827 {source="MEDGEN:1842706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016155 {source="Orphanet:207119"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016157
name: obsolete qualitative or quantitative defects of fukutin
subset: ordo_group_of_disorders {source="Orphanet:207122"}
xref: GARD:20404 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:207122 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016158
name: narcolepsy-cataplexy syndrome
def: "A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2073]
comment: This term is also known as narcolepsy type 1 and is different from the hereditary form, narcolepsy 1 (MONDO:0008062).
subset: gard_rare {source="GARD:7162", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2073"}
subset: orphanet_rare {source="Orphanet:2073"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gelineau disease" EXACT [Orphanet:2073]
synonym: "Gelineau syndrome" EXACT [GARD:0007162]
synonym: "Gelineau's syndrome" EXACT [GARD:0007162]
synonym: "Gélineau disease" EXACT [Orphanet:2073]
synonym: "narcolepsy type 1" EXACT [https://orcid.org/0000-0001-9310-0163, https://www.ninds.nih.gov/health-information/disorders/narcolepsy]
synonym: "narcolepsy with cataplexy" EXACT [MONDO:0005069]
synonym: "narcolepsy-cataplexy syndrome" EXACT [GARD:0007162]
synonym: "narcoleptic syndrome" RELATED [GARD:0007162]
xref: GARD:7162 {source="MONDO:GARD"}
xref: ICD10CM:G47.4 {source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"}
xref: ICD10CM:G47.41 {source="DOID:8986"}
xref: ICD10CM:G47.419 {source="DOID:8986", source="MONDO:directSiblingOf"}
xref: icd11.foundation:1851015159 {source="MONDO:equivalentTo", source="Orphanet:2073", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:347.0 {source="DOID:8986", source="EFO:0000614"}
xref: MedDRA:10028713 {source="Orphanet:2073/e", source="Orphanet:2073"}
xref: MEDGEN:199638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009290 {source="EFO:0000614"}
xref: NCIT:C84489 {source="EFO:0000614"}
xref: Orphanet:2073 {source="DOID:8986", source="GARD:0007162", source="MONDO:equivalentTo"}
xref: SCTID:155059003 {source="DOID:8986"}
xref: SCTID:267702006 {source="DOID:8986"}
xref: SCTID:60380001 {source="DOID:8986", source="EFO:0000614"}
xref: UMLS:C0751362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199638"}
is_a: MONDO:0003406 {source="EFO:0000614", source="ICD10CM:G47.4", source="MONDO:Redundant", source="Orphanet:2073"} ! sleep-wake disorder
is_a: MONDO:0005560 {source="EFO:0000614/inferred"} ! brain disorder
is_a: MONDO:0021107 {source="https://orcid.org/0000-0002-6601-2165"} ! narcolepsy
disjoint_from: MONDO:0019371 ! narcolepsy without cataplexy
relationship: disease_has_feature HP:0002524 ! Cataplexy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7162/narcolepsy" xsd:anyURI {source="GARD:0007162"}

[Term]
id: MONDO:0016159
name: Gemignani syndrome
subset: gard_rare {source="GARD:2451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2074"}
subset: ordo_malformation_syndrome {source="Orphanet:2074"}
subset: orphanet_rare {source="Orphanet:2074"}
subset: rare
synonym: "spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness" RELATED [GARD:0002451]
synonym: "spinocerebellar ataxia-amyotrophy-deafness syndrome" EXACT [Orphanet:2074]
xref: GARD:2451 {source="MONDO:GARD"}
xref: MEDGEN:444093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537678 {source="Orphanet:2074/e", source="MONDO:equivalentTo", source="Orphanet:2074"}
xref: Orphanet:2074 {source="MONDO:equivalentTo"}
xref: UMLS:C2931587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444093"}
is_a: MONDO:0020047 {source="Orphanet:2074"} ! autosomal recessive syndromic cerebellar ataxia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome" xsd:anyURI {source="GARD:0002451"}

[Term]
id: MONDO:0016160
name: X-linked intellectual disability-epilepsy syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:16584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:2076"}
subset: rare
xref: GARD:16584 {source="MONDO:GARD"}
xref: MEDGEN:1842841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2076 {source="MONDO:equivalentTo"}
xref: UMLS:C5680771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842841"}
is_a: MONDO:0015653 {source="Orphanet:2076"} ! monogenic epilepsy
is_a: MONDO:0020119 {source="Orphanet:2076", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016161
name: cerebral gigantism-jaw cysts syndrome
def: "Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome." [Orphanet:2081]
subset: gard_rare {source="GARD:1206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:2081"}
subset: rare
synonym: "cerebral gigantism jaw cysts" RELATED [GARD:0001206]
synonym: "Cramer Niederdellmann syndrome" RELATED [GARD:0001206]
synonym: "Cramer-Niederdellmann syndrome" EXACT [Orphanet:2081]
xref: GARD:1206 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:2081", source="Orphanet:2081/ntbt"}
xref: Orphanet:2081 {source="MONDO:equivalentObsolete", source="GARD:0001206"}
xref: SCTID:725418006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts" xsd:anyURI {source="GARD:0001206"}

[Term]
id: MONDO:0016162
name: bilateral frontal polymicrogyria
def: "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria]
subset: gard_rare {source="GARD:10783", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:208444"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080921 {source="MONDO:equivalentTo"}
xref: GARD:10783 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:208444/attributed", source="Orphanet:208444/ntbt", source="Orphanet:208444"}
xref: MEDGEN:1754014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:208444 {source="MONDO:equivalentTo"}
xref: UMLS:C5437679 {source="MEDGEN:1754014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017091 {source="Orphanet:208444"} ! bilateral polymicrogyria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria" xsd:anyURI {source="GARD:0010783"}

[Term]
id: MONDO:0016163
name: autosomal dominant cerebellar ataxia type II
subset: disease_grouping
subset: gard_rare {source="GARD:20405", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94147"}
subset: ordo_group_of_disorders {source="Orphanet:208508"}
subset: orphanet_rare {source="Orphanet:94147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adca, type 2" RELATED [OMIM:164500]
synonym: "ADCA, type II" RELATED [GARD:0004955]
synonym: "ADCA2" EXACT ABBREVIATION [Orphanet:208508]
synonym: "ADCAII" EXACT ABBREVIATION [Orphanet:208508]
synonym: "ataxia with pigmentary retinopathy" EXACT [Orphanet:94147]
synonym: "ATXN7 autosomal dominant cerebellar ataxia type II" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "autosomal dominant cerebellar ataxia type 2" EXACT [Orphanet:208508]
synonym: "autosomal dominant cerebellar ataxia type II" EXACT [Orphanet:208508]
synonym: "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant cerebellar ataxia, type 2" RELATED [OMIM:164500]
synonym: "cerebellar syndrome-pigmentary maculopathy syndrome" EXACT [Orphanet:94147]
synonym: "olivopontocerebellar atrophy 3" RELATED [OMIM:164500]
synonym: "OPCA 3" RELATED [OMIM:164500]
synonym: "OPCA III" RELATED [GARD:0004955]
synonym: "OPCA with macular Degeneration and external ophthalmoplegia" RELATED [OMIM:164500]
synonym: "OPCA with retinal Degeneration" RELATED [OMIM:164500]
synonym: "OPCA3" RELATED ABBREVIATION [GARD:0004955]
synonym: "SCA7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164500, Orphanet:94147]
synonym: "spinocerebellar ataxia 7" RELATED [MONDO:Lexical, OMIM:164500]
synonym: "spinocerebellar ataxia type 7" EXACT [MONDORULE:1, OMIM:164500]
xref: DOID:0050958 {source="MONDO:equivalentTo"}
xref: GARD:20405 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:94147/attributed", source="Orphanet:94147/ntbt", source="Orphanet:94147"}
xref: MEDGEN:156006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126562 {source="MONDO:equivalentTo"}
xref: OMIM:164500 {source="Orphanet:94147", source="MONDO:equivalentTo", source="Orphanet:94147/e", source="DOID:0050958"}
xref: Orphanet:208508 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:94147 {source="MONDO:equivalentTo", source="OMIM:164500"}
xref: SCTID:715726000 {source="MONDO:equivalentTo"}
xref: UMLS:C0752125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:156006"}
is_a: MONDO:0020380 {source="Orphanet:208508"} ! autosomal dominant cerebellar ataxia
intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10560 ! ATXN7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10560 {source="MONDO:mim2gene_medgen"} ! ATXN7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5763" xsd:anyURI

[Term]
id: MONDO:0016164
name: herpetiform pemphigus
def: "Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated." [Orphanet:208524]
subset: gard_rare {source="GARD:20406", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:208524"}
subset: orphanet_rare {source="Orphanet:208524"}
subset: rare
xref: GARD:20406 {source="MONDO:GARD"}
xref: ICD10CM:L10.2 {source="Orphanet:208524/ntbt", source="Orphanet:208524"}
xref: MEDGEN:1655315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:208524 {source="MONDO:equivalentTo"}
xref: UMLS:C4749730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1655315"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0006594 {source="PMID:8407328", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0009-0001-6494-4831"} ! pemphigus
is_a: MONDO:0019337 {source="PMID:30900757", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-7941-2961"} ! autoimmune bullous skin disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016165
name: hereditary hypoparathyroidism
def: "An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:20407", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:208593"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic hypoparathyroidism" EXACT [MONDO:patterns/genetic]
xref: GARD:20407 {source="MONDO:GARD"}
xref: MEDGEN:1842344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:208593 {source="MONDO:equivalentTo"}
xref: UMLS:C5680825 {source="MEDGEN:1842344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted"} ! endocrine system disorder
intersection_of: MONDO:0001220 ! hypoparathyroidism
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016166
name: hereditary hyperparathyroidism
def: "An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:20408", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:208596"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic hyperparathyroidism" EXACT [MONDO:patterns/genetic]
xref: GARD:20408 {source="MONDO:GARD"}
xref: MEDGEN:1843372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:145000 {source="MONDO:equivalentTo"}
xref: Orphanet:208596 {source="MONDO:equivalentTo"}
xref: UMLS:C5680826 {source="MEDGEN:1843372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted"} ! endocrine system disorder
intersection_of: MONDO:0001741 ! hyperparathyroidism
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145000"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016167
name: optic pathway glioma
def: "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1)." [Orphanet:2086]
subset: gard_rare {source="GARD:4107", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2086"}
subset: orphanet_rare {source="Orphanet:2086"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glioma of optic tract" EXACT [NCIT:C8567]
synonym: "glioma of the optic tract" EXACT [NCIT:C8567]
synonym: "glioma of the visual pathway" EXACT [NCIT:C8567]
synonym: "glioma of visual pathway" EXACT [NCIT:C8567]
synonym: "optic pathway glioma" EXACT [NCIT:C8567]
synonym: "optic tract glioma" EXACT [MONDO:patterns/location, NCIT:C8567]
synonym: "visual pathway glioma" EXACT [NCIT:C8567]
xref: GARD:4107 {source="MONDO:GARD"}
xref: ICD10CM:D33.3 {source="Orphanet:2086/ntbt", source="Orphanet:2086"}
xref: MEDGEN:162950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8567 {source="MONDO:equivalentTo"}
xref: Orphanet:2086 {source="MONDO:equivalentTo"}
xref: UMLS:C0796418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162950"}
is_a: MONDO:0016749 {source="Orphanet:2086"} ! tumor of cranial and spinal nerves
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C8567"} ! glioma
intersection_of: MONDO:0021042 ! glioma
intersection_of: disease_has_location UBERON:0001908 ! optic tract
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma" xsd:anyURI {source="GARD:0004107"}

[Term]
id: MONDO:0016168
name: cryopyrin-associated periodic syndrome
def: "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)." [Orphanet:208650]
subset: disease_grouping
subset: gard_rare {source="GARD:10927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:208650"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "caps" BROAD [Orphanet:208650]
synonym: "Cryopyrinopathy" EXACT [Orphanet:208650]
xref: GARD:10927 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:208650", source="Orphanet:208650/attributed", source="Orphanet:208650/ntbt"}
xref: icd11.foundation:2139918612 {source="MONDO:equivalentTo", source="Orphanet:208650", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068850 {source="Orphanet:208650", source="Orphanet:208650/e"}
xref: MEDGEN:412215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056587 {source="MONDO:equivalentTo", source="Orphanet:208650", source="Orphanet:208650/e"}
xref: NANDO:1200465 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200432 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84657 {source="MONDO:equivalentTo"}
xref: Orphanet:208650 {source="MONDO:equivalentTo"}
xref: SCTID:430079001 {source="MONDO:equivalentTo"}
xref: UMLS:C2316212 {source="MONDO:equivalentTo", source="MEDGEN:412215", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84657"} ! syndromic disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0017953 {source="MESH:D056587", source="Orphanet:208650"} ! hereditary periodic fever syndrome
is_a: MONDO:0019751 {source="Orphanet:208650/inferred", source="PMID:23827249", source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0016169
name: obsolete chronic acquired demyelinating polyneuropathy
def: "OBSOLETE. Chronic form of acquired peripheral neuropathy." [MONDO:patterns/chronic]
subset: ordo_group_of_disorders {source="Orphanet:208974"}
subset: otar {source="MONDO:OTAR"}
synonym: "acquired peripheral neuropathy, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
synonym: "CADP" EXACT ABBREVIATION [Orphanet:208974]
synonym: "chronic acquired peripheral neuropathy" EXACT [MONDO:design_pattern]
xref: GARD:20409 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:208974 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016170
name: obsolete chronic polyradiculoneuropathy
def: "OBSOLETE. Chronic form of polyradiculoneuropathy." [MONDO:patterns/chronic]
subset: ordo_group_of_disorders {source="Orphanet:208978"}
synonym: "polyradiculoneuropathy, chronic" EXACT [MONDO:patterns/chronic]
xref: GARD:20410 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G61.8 {source="Orphanet:208978/ntbt", source="Orphanet:208978"}
xref: Orphanet:208978 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016171
name: polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
subset: gard_rare {source="GARD:20411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20411 {source="MONDO:GARD"}
xref: ICD10CM:G61.8 {source="Orphanet:208981/ntbt", source="Orphanet:208981"}
xref: Orphanet:208981 {source="MONDO:equivalentTo"}
is_a: MONDO:0006915 {source="https://orcid.org/0000-0002-4142-7153"} ! polyradiculoneuropathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0016172
name: obsolete acquired sensory ganglionopathy
def: "OBSOLETE. An instance of sensory ganglionopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:208984"}
synonym: "acquired sensory ganglionopathy" EXACT [MONDO:patterns/acquired]
synonym: "acquired sensory neuronopathy" EXACT [Orphanet:208984]
xref: GARD:20412 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:208984 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016173
name: obsolete non-paraneoplastic sensory ganglionopathy
subset: ordo_disorder {source="Orphanet:208989"}
synonym: "non-paraneoplastic sensory neuronopathy" EXACT [Orphanet:208989]
xref: GARD:20413 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:208989 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016174
name: obsolete paraneoplastic sensory ganglionopathy
subset: ordo_disorder {source="Orphanet:208999"}
synonym: "paraneoplastic sensory neuronopathy" EXACT [Orphanet:208999]
xref: GARD:20414 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:208999 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016175
name: cutis laxa
def: "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." [Orphanet:209]
subset: disease_grouping
subset: gard_rare {source="GARD:6227", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1022"}
subset: ordo_group_of_disorders {source="Orphanet:209"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutis laxa" EXACT [DOID:3144]
synonym: "elastolysis" EXACT [NCIT:C84663]
synonym: "generalised elastolysis" RELATED OMO:0003005 []
synonym: "generalized elastolysis" RELATED [GARD:0006227]
synonym: "loose skin" EXACT [DOID:3144]
xref: DOID:3144 {source="MONDO:equivalentTo"}
xref: GARD:6227 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:3144", source="Orphanet:209/inclusion", source="Orphanet:209", source="Orphanet:209/ntbt"}
xref: icd11.foundation:1227401566 {source="MONDO:equivalentTo", source="Orphanet:209"}
xref: MedDRA:10011692 {source="Orphanet:209", source="Orphanet:209/e"}
xref: MEDGEN:8206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003483 {source="DOID:3144", source="MONDO:equivalentTo", source="Orphanet:209", source="Orphanet:209/e"}
xref: NCIT:C84663 {source="DOID:3144", source="MONDO:equivalentTo"}
xref: NORD:1022 {source="MONDO:NORD"}
xref: Orphanet:209 {source="DOID:3144", source="MONDO:equivalentTo"}
xref: SCTID:238825007 {source="DOID:3144"}
xref: SCTID:58588007 {source="DOID:3144", source="MONDO:equivalentTo"}
xref: UMLS:C0010495 {source="MEDGEN:8206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0020159 {source="Orphanet:209"} ! congenital entropion
relationship: excluded_subClassOf MONDO:0015216 {source="Orphanet:209", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic diaphragmatic or abdominal wall malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa" xsd:anyURI {source="GARD:0006227"}

[Term]
id: MONDO:0016176
name: axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
subset: gard_rare {source="GARD:20415", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209004"}
subset: orphanet_rare {source="Orphanet:209004"}
subset: rare
xref: GARD:20415 {source="MONDO:GARD"}
xref: ICD10CM:G61.8 {source="Orphanet:209004", source="Orphanet:209004/ntbt"}
xref: MEDGEN:1842867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209004 {source="MONDO:equivalentTo"}
xref: UMLS:C5680822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842867"}
is_a: MONDO:0015923 {source="Orphanet:209004"} ! acquired peripheral neuropathy

[Term]
id: MONDO:0016177
name: obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inflammatory disease'
subset: ordo_group_of_disorders {source="Orphanet:209007"}
xref: GARD:20416 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209007 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021166

[Term]
id: MONDO:0016178
name: obsolete peripheral neuropathy associated with monoclonal gammopathy
subset: ordo_group_of_disorders {source="Orphanet:209010"}
xref: GARD:20417 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209010 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016179
name: obsolete acquired amyloid peripheral neuropathy
subset: ordo_group_of_disorders {source="Orphanet:209013"}
xref: GARD:20418 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209013 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016180
name: obsolete hematological disease associated with an acquired peripheral neuropathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease
subset: ordo_group_of_disorders {source="Orphanet:209016"}
xref: GARD:20419 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209016 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005570

[Term]
id: MONDO:0016181
name: obsolete solid tumor associated with an acquired peripheral neuropathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neoplasm
subset: ordo_group_of_disorders {source="Orphanet:209019"}
xref: GARD:20420 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209019 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005070

[Term]
id: MONDO:0016182
name: obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase
subset: ordo_group_of_disorders {source="Orphanet:209024"}
synonym: "qualitative or quantitative defects of protein POMGNT1" EXACT [Orphanet:209024]
xref: GARD:20421 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209024 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016183
name: obsolete qualitative or quantitative defects of protein glycosyltransferase-like
subset: ordo_group_of_disorders {source="Orphanet:209027"}
xref: GARD:20422 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209027 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016184
name: qualitative or quantitative defects of protein O-mannosyltransferase 1
subset: disease_grouping
subset: gard_rare {source="GARD:20423", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209030"}
subset: rare
synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 1" EXACT [MONDORULE:1, Orphanet:209030]
xref: GARD:20423 {source="MONDO:GARD"}
xref: MEDGEN:1842612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209030 {source="MONDO:equivalentTo"}
xref: UMLS:C5680849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842612"}
is_a: MONDO:0016155 {source="Orphanet:209030"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016185
name: qualitative or quantitative defects of protein O-mannosyltransferase 2
subset: disease_grouping
subset: gard_rare {source="GARD:20424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209033"}
subset: rare
synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 2" EXACT [MONDORULE:1, Orphanet:209033]
xref: GARD:20424 {source="MONDO:GARD"}
xref: MEDGEN:1842845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209033 {source="MONDO:equivalentTo"}
xref: UMLS:C5680852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842845"}
is_a: MONDO:0016155 {source="Orphanet:209033"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016186
name: qualitative or quantitative defects of myofibrillar proteins
subset: disease_grouping
subset: gard_rare {source="GARD:20425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209038"}
subset: rare
xref: GARD:20425 {source="MONDO:GARD"}
xref: MEDGEN:1842566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209038 {source="MONDO:equivalentTo"}
xref: UMLS:C5680851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842566"}
is_a: MONDO:0016139 {source="Orphanet:209038"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016187
name: qualitative or quantitative defects of desmin
subset: disease_grouping
subset: gard_rare {source="GARD:20426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209041"}
subset: rare
xref: GARD:20426 {source="MONDO:GARD"}
xref: MEDGEN:1842905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209041 {source="MONDO:equivalentTo"}
xref: UMLS:C5680839 {source="MEDGEN:1842905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016186 {source="Orphanet:209041"} ! qualitative or quantitative defects of myofibrillar proteins
intersection_of: MONDO:0000001 ! disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 ! DES
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016188
name: qualitative or quantitative defects of alphaB-cristallin
subset: disease_grouping
subset: gard_rare {source="GARD:20427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209044"}
subset: rare
xref: GARD:20427 {source="MONDO:GARD"}
xref: MEDGEN:1843314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209044 {source="MONDO:equivalentTo"}
xref: UMLS:C5680838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843314"}
is_a: MONDO:0016186 {source="Orphanet:209044"} ! qualitative or quantitative defects of myofibrillar proteins
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016189
name: qualitative or quantitative defects of filamin C
subset: disease_grouping
subset: gard_rare {source="GARD:20428", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:209047"}
subset: rare
synonym: "qualitative or quantitative defects of filamin type C" EXACT [MONDORULE:1, Orphanet:209047]
xref: GARD:20428 {source="MONDO:GARD"}
xref: MEDGEN:1843024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209047 {source="MONDO:equivalentTo"}
xref: UMLS:C5680841 {source="MEDGEN:1843024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016186 {source="Orphanet:209047"} ! qualitative or quantitative defects of myofibrillar proteins
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016190
name: qualitative or quantitative defects of protein ZASP
subset: disease_grouping
subset: gard_rare {source="GARD:20429", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:209050"}
subset: rare
xref: GARD:20429 {source="MONDO:GARD"}
xref: MEDGEN:1842575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209050 {source="MONDO:equivalentTo"}
xref: UMLS:C5680840 {source="MEDGEN:1842575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016186 {source="Orphanet:209050"} ! qualitative or quantitative defects of myofibrillar proteins
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016191
name: qualitative or quantitative defects of titin
subset: disease_grouping
subset: gard_rare {source="GARD:20430", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209053"}
subset: rare
xref: GARD:20430 {source="MONDO:GARD"}
xref: MEDGEN:1843244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209053 {source="MONDO:equivalentTo"}
xref: UMLS:C5680843 {source="MEDGEN:1843244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016139 {source="Orphanet:209053"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016192
name: qualitative or quantitative defects of telethonin
subset: disease_grouping
subset: gard_rare {source="GARD:20431", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209056"}
subset: rare
xref: GARD:20431 {source="MONDO:GARD"}
xref: MEDGEN:1842233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209056 {source="MONDO:equivalentTo"}
xref: UMLS:C5680842 {source="MONDO:equivalentTo", source="MEDGEN:1842233", source="MONDO:MEDGEN"}
is_a: MONDO:0016139 {source="Orphanet:209056"} ! qualitative or quantitative protein defects in neuromuscular diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 {source="Orphanet:209056"} ! TCAP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016193
name: qualitative or quantitative defects of alpha-actin
subset: disease_grouping
subset: gard_rare {source="GARD:20432", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209059"}
subset: rare
xref: GARD:20432 {source="MONDO:GARD"}
xref: MEDGEN:1842305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209059 {source="MONDO:equivalentTo"}
xref: UMLS:C5680845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842305"}
is_a: MONDO:0016139 {source="Orphanet:209059"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016194
name: qualitative or quantitative defects of nebulin
subset: disease_grouping
subset: gard_rare {source="GARD:20433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209182"}
subset: rare
xref: GARD:20433 {source="MONDO:GARD"}
xref: MEDGEN:1842429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209182 {source="MONDO:equivalentTo"}
xref: UMLS:C5680844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842429"}
is_a: MONDO:0016139 {source="Orphanet:209182"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016195
name: qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
subset: disease_grouping
subset: gard_rare {source="GARD:20434", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209185"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20434 {source="MONDO:GARD"}
xref: MEDGEN:1842636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209185 {source="MONDO:equivalentTo"}
xref: UMLS:C5680832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842636"}
is_a: MONDO:0016139 {source="Orphanet:209185"} ! qualitative or quantitative protein defects in neuromuscular diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="Orphanet:209185"} ! MYH7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016196
name: obsolete qualitative or quantitative defects of emerin
subset: ordo_group_of_disorders {source="Orphanet:209188"}
xref: GARD:20435 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209188 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016197
name: qualitative or quantitative defects of selenoprotein N1
subset: disease_grouping
subset: gard_rare {source="GARD:20436", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:209193"}
subset: rare
xref: GARD:20436 {source="MONDO:GARD"}
xref: MEDGEN:1842545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209193 {source="MONDO:equivalentTo"}
xref: UMLS:C5680834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842545"}
is_a: MONDO:0016139 {source="Orphanet:209193"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016198
name: qualitative or quantitative defects of plectin
subset: disease_grouping
subset: gard_rare {source="GARD:20437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209196"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20437 {source="MONDO:GARD"}
xref: MEDGEN:1842345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209196 {source="MONDO:equivalentTo"}
xref: UMLS:C5680835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842345"}
is_a: MONDO:0016139 {source="Orphanet:209196"} ! qualitative or quantitative protein defects in neuromuscular diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="Orphanet:209196"} ! PLEC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016199
name: qualitative or quantitative defects of protein SERCA1
subset: disease_grouping
subset: gard_rare {source="GARD:20438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209199"}
subset: rare
xref: GARD:20438 {source="MONDO:GARD"}
xref: MEDGEN:1843114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209199 {source="MONDO:equivalentTo"}
xref: UMLS:C5680836 {source="MEDGEN:1843114", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016139 {source="Orphanet:209199"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0016200
name: obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
subset: ordo_group_of_disorders {source="Orphanet:209203"}
synonym: "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -" EXACT [MONDORULE:1, Orphanet:209203]
xref: GARD:20439 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209203 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016201
name: obsolete qualitative or quantitative defects of myotilin
subset: ordo_group_of_disorders {source="Orphanet:209224"}
xref: GARD:20440 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:209224 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016202
name: autosomal dominant rhegmatogenous retinal detachment
def: "Autosomal dominant form of rhegmatogenous retinal detachment." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:17104", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:209867"}
subset: orphanet_rare {source="Orphanet:209867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DRRD" EXACT [OMIM:609508]
synonym: "rhegmatogenous retinal detachment, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:609508]
xref: GARD:17104 {source="MONDO:GARD"}
xref: ICD10CM:H33.0 {source="Orphanet:209867", source="Orphanet:209867/attributed", source="Orphanet:209867/ntbt"}
xref: MEDGEN:322821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609508 {source="Orphanet:209867", source="Orphanet:209867/ntbt", source="MONDO:includedEntryInOMIM"}
xref: Orphanet:209867 {source="MONDO:equivalentTo"}
xref: UMLS:C1836081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322821"}
is_a: MONDO:0005283 {source="Orphanet:209867", source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder
intersection_of: MONDO:0005464 ! rhegmatogenous retinal detachment
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: excluded_subClassOf MONDO:0012287 {source="https://orcid.org/0000-0001-5208-3432"} ! Stickler syndrome, type I, nonsyndromic ocular
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5810" xsd:anyURI

[Term]
id: MONDO:0016203
name: hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
subset: gard_rare {source="GARD:20441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209902"}
subset: orphanet_rare {source="Orphanet:209902"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20441 {source="MONDO:GARD"}
xref: ICD10CM:E78.0 {source="Orphanet:209902/attributed", source="Orphanet:209902/ntbt", source="Orphanet:209902"}
xref: MEDGEN:1653798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209902 {source="MONDO:equivalentTo"}
xref: UMLS:C4751204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1653798"}
is_a: MONDO:0005439 ! familial hypercholesterolemia
is_a: MONDO:0019218 {source="Orphanet:209902"} ! inborn disorder of bile acid synthesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018799"} ! rare

[Term]
id: MONDO:0016204
name: idiopathic copper-associated cirrhosis
def: "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." [Orphanet:209919]
subset: gard_rare {source="GARD:17106", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209919"}
subset: orphanet_rare {source="Orphanet:209919"}
subset: rare
synonym: "non-Wilsonian hepatic copper toxicosis of infancy and childhood" EXACT [Orphanet:209919]
xref: GARD:17106 {source="MONDO:GARD"}
xref: ICD10CM:K74.6 {source="Orphanet:209919", source="Orphanet:209919/ntbt"}
xref: icd11.foundation:1692504835 {source="MONDO:equivalentTo", source="Orphanet:209919"}
xref: MEDGEN:907284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209919 {source="MONDO:equivalentTo"}
xref: SCTID:715864007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274853 {source="MEDGEN:907284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005154 ! liver disorder
relationship: disease_has_location UBERON:0001280 ! liver parenchyma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0016205
name: IRVAN syndrome
subset: gard_rare {source="GARD:12868", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209943"}
subset: orphanet_rare {source="Orphanet:209943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome" EXACT [Orphanet:209943]
synonym: "idiopathic retinal-aneurysms-neuroretinitis syndrome" RELATED [GARD:0012868]
xref: GARD:12868 {source="MONDO:GARD"}
xref: ICD10CM:H35.0 {source="Orphanet:209943/attributed", source="Orphanet:209943/ntbt", source="Orphanet:209943"}
xref: MEDGEN:1435227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209943 {source="MONDO:equivalentTo"}
xref: UMLS:C3665812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1435227"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare

[Term]
id: MONDO:0016206
name: idiopathic uveal effusion syndrome
subset: gard_rare {source="GARD:20442", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:209956"}
subset: orphanet_rare {source="Orphanet:209956"}
subset: rare
xref: GARD:20442 {source="MONDO:GARD"}
xref: MEDGEN:1669541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209956 {source="MONDO:equivalentTo"}
xref: UMLS:C4755300 {source="MEDGEN:1669541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017255 {source="Orphanet:209956"} ! panuveitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0016207
name: phacoanaphylactic uveitis
def: "Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins." [https://medical-dictionary.thefreedictionary.com/phacoanaphylactic+uveitis]
subset: gard_rare {source="GARD:20443", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:209959"}
subset: orphanet_rare {source="Orphanet:209959"}
subset: rare
synonym: "endophthalmitis phacoanaphylactica" EXACT [Orphanet:209959]
synonym: "lens-induced endophthalmitis" EXACT [Orphanet:209959]
synonym: "lens-induced iridocyclitis" RELATED [Orphanet:209959]
synonym: "lens-induced uveitis" EXACT [Orphanet:209959]
synonym: "Phacoallergic endophthalmitis" EXACT [Orphanet:209959]
synonym: "Phacoantigenic endophthalmitis" EXACT [Orphanet:209959]
synonym: "Phako-anaphylactic endophthalmitis" EXACT [Orphanet:209959]
xref: GARD:20443 {source="MONDO:GARD"}
xref: ICD10CM:H20.2 {source="Orphanet:209959", source="Orphanet:209959/e"}
xref: MEDGEN:731803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209959 {source="MONDO:equivalentTo"}
xref: SCTID:410494003 {source="MONDO:equivalentTo"}
xref: UMLS:C1444621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:731803"}
is_a: MONDO:0017634 {source="Orphanet:209959"} ! non-infectious anterior uveitis

[Term]
id: MONDO:0016208
name: solitary rectal ulcer syndrome
def: "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." [Orphanet:209964]
subset: gard_rare {source="GARD:20444", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209964"}
subset: orphanet_rare {source="Orphanet:209964"}
subset: rare
xref: GARD:20444 {source="MONDO:GARD"}
xref: ICD10CM:K62.6 {source="MONDO:relatedTo", source="Orphanet:209964/ntbt", source="Orphanet:209964"}
xref: MEDGEN:906337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209964 {source="MONDO:equivalentTo"}
xref: SCTID:716685003 {source="MONDO:equivalentTo"}
xref: UMLS:C4274343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906337"}
is_a: MONDO:0005020 {source="Orphanet:209964"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare

[Term]
id: MONDO:0016209
name: benign familial nocturnal alternating hemiplegia of childhood
def: "Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities." [Orphanet:209973]
subset: gard_rare {source="GARD:20445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209973"}
subset: orphanet_rare {source="Orphanet:209973"}
subset: rare
synonym: "benign familial nocturnal alternating hemiplegia in childhood" EXACT [Orphanet:209973]
synonym: "benign nocturnal alternating hemiplegia of childhood" RELATED [Orphanet:209973]
xref: GARD:20445 {source="MONDO:GARD"}
xref: MEDGEN:1668716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209973 {source="MONDO:equivalentTo"}
xref: UMLS:C4749822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1668716"}
is_a: MONDO:0016210 {source="Orphanet:209973"} ! alternating hemiplegia

[Term]
id: MONDO:0016210
name: alternating hemiplegia
subset: disease_grouping
subset: gard_rare {source="GARD:20446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:209978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20446 {source="MONDO:GARD"}
xref: icd11.foundation:774373615 {source="Orphanet:209978", source="MONDO:equivalentTo"}
xref: MEDGEN:124456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209978 {source="MONDO:equivalentTo"}
xref: SCTID:404689008 {source="MONDO:equivalentTo"}
xref: UMLS:C0278110 {source="MEDGEN:124456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder

[Term]
id: MONDO:0016211
name: non-papillary transitional cell carcinoma of the bladder
subset: gard_rare {source="GARD:20447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:209989"}
subset: orphanet_rare {source="Orphanet:209989"}
subset: rare
synonym: "non-papillary urothelial carcinoma" EXACT [Orphanet:209989]
xref: GARD:20447 {source="MONDO:GARD"}
xref: ICD10CM:C67.0 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.1 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.2 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.3 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.4 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.5 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.6 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.7 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.8 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: ICD10CM:C67.9 {source="Orphanet:209989", source="Orphanet:209989/btnt"}
xref: MEDGEN:1842547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:209989 {source="MONDO:equivalentTo"}
xref: UMLS:C5679798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842547"}
is_a: MONDO:0006474 {source="MONDO:0016211/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! transitional cell carcinoma
is_a: MONDO:0021066 {source="Orphanet:209989"} ! urinary system neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020032"} ! rare

[Term]
id: MONDO:0016212
name: obsolete cyclosporosis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3694" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005725

[Term]
id: MONDO:0016213
name: leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
def: "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." [Orphanet:210133]
subset: gard_rare {source="GARD:20448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210133"}
subset: orphanet_rare {source="Orphanet:210133"}
subset: rare
xref: GARD:20448 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:210133/attributed", source="Orphanet:210133/ntbt", source="Orphanet:210133"}
xref: MEDGEN:1654873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:210133 {source="MONDO:equivalentTo"}
xref: UMLS:C4751169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1654873"}
is_a: MONDO:0019289 {source="Orphanet:210133"} ! hyperpigmentation of the skin

[Term]
id: MONDO:0016214
name: pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
def: "Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality." [Orphanet:210136]
subset: gard_rare {source="GARD:20449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210136"}
subset: orphanet_rare {source="Orphanet:210136"}
subset: rare
xref: GARD:20449 {source="MONDO:GARD"}
xref: MEDGEN:1385709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:210136 {source="MONDO:equivalentTo"}
xref: UMLS:C4510085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385709"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163"} ! respiratory system disorder
is_a: MONDO:0015925 {source="https://orcid.org/0000-0002-3458-4839"} ! interstitial lung disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0016215
name: spastic quadriplegic cerebral palsy
def: "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities." [NCIT:C116904]
subset: gard_rare {source="GARD:17109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210141"}
subset: orphanet_rare {source="Orphanet:210141"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inherited congenital spastic quadriplegia" EXACT [Orphanet:210141]
synonym: "inherited congenital spastic tetraplegia" RELATED [Orphanet:210141]
synonym: "quadriplegic infantile cerebral palsy" EXACT [DOID:10970, ICD9CM:343.2]
synonym: "spastic quadriplegia" EXACT [NCIT:C116904]
synonym: "spastic quadriplegic cerebral palsy" EXACT [DOID:10970, GARD:0010447, Orphanet:210141]
synonym: "spastic tetraplegia cerebral palsy" EXACT [GARD:0010447]
synonym: "tetraplegic infantile cerebral palsy" EXACT [DOID:10970]
xref: DOID:10970 {source="MONDO:equivalentTo"}
xref: GARD:17109 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:210141/attributed", source="Orphanet:210141/ntbt", source="Orphanet:210141"}
xref: ICD9:343.2 {source="DOID:10970"}
xref: ICD9:344.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002547 {source="DOID:10970"}
xref: NCIT:C116904 {source="MONDO:equivalentTo"}
xref: OMIMPS:603513 {source="MONDO:equivalentObsolete", source="https://orcid.org/0000-0002-6601-2165"}
xref: OMIMPS:612900 {source="MONDO:equivalentTo"}
xref: Orphanet:210141 {source="MONDO:equivalentTo", source="DOID:10970"}
xref: SCTID:192953000 {source="DOID:10970"}
xref: SCTID:192965001 {source="MONDO:equivalentTo"}
xref: SCTID:275468009 {source="DOID:10970"}
xref: UMLS:C0426970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98433"}
is_a: MONDO:0000396 {source="DOID:10970"} ! spastic cerebral palsy
is_a: MONDO:0006497 {source="DOID:10970/inferred", source="MONDO:Redundant", source="NCIT:C116904"} ! cerebral palsy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:612900"} ! inherited

[Term]
id: MONDO:0016216
name: adult hepatocellular carcinoma
def: "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." [Orphanet:210159]
subset: gard_rare {source="GARD:6608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210159"}
subset: orphanet_rare {source="Orphanet:210159"}
subset: rare
synonym: "adult HCC" EXACT [Orphanet:210159]
synonym: "adult hepatocellular carcinoma" EXACT [NCIT:C7956]
synonym: "adult hepatoma" EXACT [NCIT:C7956]
synonym: "adult primary carcinoma of liver cell" EXACT [NCIT:C7956]
synonym: "adult primary carcinoma of the liver cell" EXACT [NCIT:C7956]
synonym: "adult primary hepatocellular carcinoma" EXACT [NCIT:C7956]
synonym: "adult primary hepatoma" EXACT [NCIT:C7956]
synonym: "adult primary liver cell carcinoma" EXACT [NCIT:C7956]
synonym: "hepatocellular cancer" BROAD [NCIT:C7956]
synonym: "hepatocellular carcinoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:0070328 {source="MONDO:equivalentTo"}
xref: GARD:6608 {source="MONDO:GARD"}
xref: ICD10CM:C22.0 {source="Orphanet:210159", source="Orphanet:210159/ntbt"}
xref: MEDGEN:124633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7956 {source="MONDO:equivalentTo"}
xref: Orphanet:210159 {source="MONDO:equivalentTo"}
xref: UMLS:C0279607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124633"}
is_a: MONDO:0007256 {source="MONDO:Redundant", source="NCIT:C7956", source="Orphanet:210159"} ! hepatocellular carcinoma
intersection_of: MONDO:0007256 ! hepatocellular carcinoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0016217
name: mal de Debarquement
def: "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train." [Orphanet:210272]
subset: gard_rare {source="GARD:6959", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1394", source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:210272"}
subset: ordo_disorder {source="Orphanet:210272"}
subset: orphanet_rare {source="Orphanet:210272"}
subset: rare
synonym: "disembarkment syndrome" EXACT [Orphanet:210272]
synonym: "Mal de debarquement syndrome" RELATED [GARD:0006959]
synonym: "Mal de débarquement" RELATED [Orphanet:210272]
synonym: "MDD" EXACT ABBREVIATION [Orphanet:210272]
synonym: "MdDS" EXACT [Orphanet:210272]
synonym: "sickness of disembarkment" EXACT [Orphanet:210272]
xref: GARD:6959 {source="MONDO:GARD"}
xref: ICD10CM:H81.8 {source="Orphanet:210272/ntbt", source="Orphanet:210272"}
xref: icd11.foundation:459420954 {source="MONDO:equivalentTo", source="Orphanet:210272", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10064924 {source="Orphanet:210272/e", source="Orphanet:210272"}
xref: MEDGEN:345629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537840 {source="Orphanet:210272/e", source="MONDO:equivalentTo", source="Orphanet:210272"}
xref: NORD:1394 {source="MONDO:NORD"}
xref: Orphanet:210272 {source="MONDO:equivalentTo"}
xref: SCTID:446079007 {source="MONDO:equivalentTo"}
xref: UMLS:C1608983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:345629"}
is_a: MONDO:0024623 {source="Orphanet:210272"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare

[Term]
id: MONDO:0016218
name: Guillain-Barre syndrome
def: "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." [Orphanet:2103]
subset: disease_grouping
subset: gard_rare {source="GARD:6554", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:2103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute autoimmune peripheral neuropathy" RELATED [GARD:0006554]
synonym: "acute immune-mediated polyneuropathy" RELATED [GARD:0006554]
synonym: "acute infective polyneuritis" RELATED EXCLUDE [DOID:12842]
synonym: "acute inflammatory demyelinating polyneuropathy" RELATED [GARD:0006554]
synonym: "acute inflammatory neuropathy" RELATED [GARD:0006554]
synonym: "acute postinfectious polyneuropathy" EXACT [DOID:12842]
synonym: "GBS" EXACT ABBREVIATION [Orphanet:2103]
synonym: "Guillain Barre syndrome" EXACT [NCIT:C116345]
synonym: "Guillain Barré syndrome" EXACT [NCIT:C116345]
synonym: "Guillain-Barre-Strohl syndrome" EXACT [Orphanet:2103]
synonym: "Guillain-Barré syndrome" EXACT [Orphanet:2103]
synonym: "Guillain-Barré-Strohl syndrome" EXACT [Orphanet:2103]
synonym: "infectious neuronitis" NARROW EXCLUDE [DOID:12842]
synonym: "Landry's ascending paralysis" RELATED [GARD:0006554]
synonym: "Landry-Guillain-Barre-Strohl syndrome" RELATED [GARD:0006554]
synonym: "post-infectious polyneuritis" NARROW [DOID:12842]
synonym: "post-infective polyneuritis" NARROW [GARD:0006554]
synonym: "postinfectious polyneuritis" NARROW [DOID:12842]
xref: DOID:12842 {source="EFO:0007292", source="MONDO:equivalentTo"}
xref: EFO:0007292 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6554 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="DOID:12842", source="Orphanet:2103", source="MONDO:equivalentTo", source="Orphanet:2103/e"}
xref: MedDRA:10018767 {source="Orphanet:2103", source="Orphanet:2103/e"}
xref: MEDGEN:5399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020275 {source="DOID:12842", source="Orphanet:2103", source="EFO:0007292", source="MONDO:equivalentTo", source="Orphanet:2103/e"}
xref: NCIT:C116345 {source="DOID:12842", source="MONDO:equivalentTo"}
xref: Orphanet:2103 {source="MONDO:equivalentTo"}
xref: SCTID:40956001 {source="MONDO:equivalentTo"}
xref: UMLS:C0018378 {source="MEDGEN:5399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000590 {source="DOID:12842", source="MONDO:Entailed", source="MONDO:indirect"} ! autoimmune disorder of peripheral nervous system
is_a: MONDO:0002254 {source="NCIT:C116345"} ! syndromic disease
is_a: MONDO:0002977 {source="DOID:12842/inferred", source="MESH:D020275/inferred", source="MONDO:Redundant", source="NCIT:C116345"} ! autoimmune disorder of the nervous system
is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0016137 {source="Orphanet:2103", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete acute and subacute inflammatory demyelinating polyneuropathy

[Term]
id: MONDO:0016219
name: dysmorphism-pectus carinatum-joint laxity syndrome
def: "Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown." [Orphanet:2104]
subset: gard_rare {source="GARD:18760", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2104"}
subset: ordo_malformation_syndrome {source="Orphanet:2104"}
subset: orphanet_rare {source="Orphanet:2104"}
subset: rare
synonym: "dysmorphism-pectus carinatum-joint laxity syndrome" EXACT [GARD:0000352]
synonym: "Guizar Vasquez Sanchez Manzano syndrome" RELATED [GARD:0000352]
synonym: "Guízar Vázquez-Sánchez-Manzano syndrome" EXACT [Orphanet:2104]
xref: GARD:18760 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2104/attributed", source="Orphanet:2104/ntbt", source="Orphanet:2104"}
xref: MEDGEN:1385827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2104 {source="GARD:0000352", source="MONDO:equivalentTo"}
xref: UMLS:C4518558 {source="MEDGEN:1385827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:2104"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:2104", source="Orphanet:2104/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/352/guizar-vasquez-sanchez-manzano-syndrome" xsd:anyURI {source="GARD:0000352"}

[Term]
id: MONDO:0016220
name: congenital temporomandibular joint ankylosis
def: "Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported." [Orphanet:210576]
subset: gard_rare {source="GARD:20450", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210576"}
subset: orphanet_rare {source="Orphanet:210576"}
subset: rare
synonym: "congenital trismus" EXACT [Orphanet:210576]
xref: GARD:20450 {source="MONDO:GARD"}
xref: MEDGEN:1638477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:210576 {source="MONDO:equivalentTo"}
xref: SCTID:763215008 {source="MONDO:equivalentTo"}
xref: UMLS:C4706319 {source="MEDGEN:1638477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002257 {source="PMID:27190665", source="https://orcid.org/0009-0001-6494-4831"} ! ankylosis
is_a: MONDO:0005473 {source="PMID:27190665", source="https://orcid.org/0009-0001-6494-4831"} ! temporomandibular joint disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0016221
name: obsolete temporomandibular joint anomaly
subset: ordo_group_of_disorders {source="Orphanet:210581"}
xref: GARD:20451 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:210581 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016222
name: spindle cell hemangioma
def: "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis." [Orphanet:210584]
subset: gard_rare {source="GARD:20452", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:210584"}
subset: orphanet_rare {source="Orphanet:210584"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCh" EXACT [DOID:496, NCIT:C4754]
synonym: "spindle -cell hemangioma" EXACT [NCIT:C4754]
synonym: "spindle cell hemangioendothelioma" EXACT [NCIT:C4754, Orphanet:210584]
synonym: "spindle cell hemangioma" EXACT [NCIT:C4754]
xref: DOID:496 {source="MONDO:equivalentTo"}
xref: GARD:20452 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:210584/ntbt", source="Orphanet:210584"}
xref: ICDO:9136/0 {source="NCIT:C4754"}
xref: ICDO:9136/1 {source="NCIT:C4754"}
xref: MEDGEN:224916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4754 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:496"}
xref: Orphanet:210584 {source="MONDO:equivalentTo"}
xref: SCTID:128769003 {source="DOID:496"}
xref: SCTID:134304005 {source="DOID:496"}
xref: SCTID:403967000 {source="MONDO:equivalentTo", source="DOID:496"}
xref: UMLS:C1304508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224916"}
is_a: MONDO:0006500 {source="DOID:496", source="NCIT:C4754"} ! hemangioma
is_a: MONDO:0024296 {source="Orphanet:210584"} ! vascular neoplasm
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0016223
name: infantile hemangioma of rare localization
comment: Editor note: consider alternate naming
subset: disease_grouping
subset: gard_rare {source="GARD:20453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:210589"}
subset: rare
xref: GARD:20453 {source="MONDO:GARD"}
xref: MEDGEN:825458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:210589 {source="MONDO:equivalentTo"}
xref: SCTID:703270004 {source="MONDO:equivalentTo"}
xref: UMLS:C3839613 {source="MEDGEN:825458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="https://orcid.org/0000-0002-6601-2165"} ! hemangioma
is_a: MONDO:0024296 {source="Orphanet:210589"} ! vascular neoplasm
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0016224
name: obsolete autosomal dominant proximal spinal muscular atrophy
def: "OBSOLETE. Autosomal dominant form of proximal spinal muscular atrophy." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:211037"}
subset: otar {source="MONDO:OTAR"}
synonym: "proximal spinal muscular atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:20454 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G12.1 {source="Orphanet:211037/attributed", source="Orphanet:211037/ntbt", source="Orphanet:211037"}
xref: Orphanet:211037 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016225
name: specific learning disability
def: "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)" [MESH:D000067559]
subset: disease_grouping
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:211047"}
subset: rare
synonym: "specific learning difficulty" EXACT [Orphanet:211047]
synonym: "specific learning disorder" EXACT [Orphanet:211047]
xref: MEDGEN:871302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000067559 {source="MONDO:equivalentTo"}
xref: Orphanet:211047 {source="MONDO:equivalentTo"}
xref: UMLS:C4025790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:871302"}
is_a: MONDO:0005071 {source="Orphanet:211047"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0016226
name: specific language disorder
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:211053"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysphasia" EXACT [Orphanet:211053]
synonym: "specific language disorder" EXACT CLINGEN_LABEL []
xref: MEDGEN:1631585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000080888 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: Orphanet:211053 {source="MONDO:equivalentTo"}
xref: UMLS:C4553954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631585"}
is_a: MONDO:0016225 {source="Orphanet:211053"} ! specific learning disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0016227
name: hereditary episodic ataxia
def: "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2." [Orphanet:211062]
subset: disease_grouping
subset: gard_rare {source="GARD:20457", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:211062"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ea syndrome" RELATED [GARD:0009851]
synonym: "episodic ataxia" EXACT [MONDO:0006503]
synonym: "episodic ataxia syndrome" RELATED [GARD:0009851]
synonym: "Isaacs syndrome" RELATED [DOID:963]
xref: DOID:963 {source="MONDO:equivalentTo", source="EFO:1000638"}
xref: GARD:20457 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:211062/attributed", source="Orphanet:211062/ntbt", source="Orphanet:211062"}
xref: icd11.foundation:423095680 {source="MONDO:equivalentTo", source="Orphanet:211062"}
xref: MEDGEN:314033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580065 {source="DOID:963"}
xref: OMIMPS:160120 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:211062 {source="DOID:963", source="MONDO:equivalentTo"}
xref: SCTID:421455009 {source="DOID:963", source="MONDO:equivalentTo"}
xref: UMLS:C1720189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:314033"}
is_a: MONDO:0100309 {source="DOID:963", source="Orphanet:211062"} ! hereditary ataxia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:160120"} ! inherited

[Term]
id: MONDO:0016228
name: obsolete rare vascular tumor
def: "OBSOLETE. Any of the forms of vascular neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:211237"}
synonym: "rare vascular neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:20458 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:211237 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024296

[Term]
id: MONDO:0016229
name: obsolete hereditary vascular anomaly
def: "OBSOLETE. An instance of vascular anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:211240"}
synonym: "genetic vascular anomaly" EXACT [MONDO:patterns/genetic]
xref: GARD:20459 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:211240 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016230
name: obsolete simple vascular malformation
subset: ordo_group_of_disorders {source="Orphanet:211243"}
xref: GARD:20460 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:211243 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016231
name: capillary malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:211247"}
subset: otar {source="MONDO:OTAR"}
synonym: "congenital malformation of capillary" NARROW []
synonym: "rare capillary malformation" RELATED [Orphanet:211247]
xref: MEDGEN:90955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:211247 {source="MONDO:equivalentTo"}
xref: SCTID:234118009 {source="MONDO:equivalentTo"}
xref: UMLS:C0340803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90955"}
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
relationship: disease_arises_from_structure UBERON:0001982 ! capillary
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0016232
name: obsolete rare venous malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:211252"}
xref: GARD:20462 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q27.8 {source="Orphanet:211252/ntbt", source="Orphanet:211252"}
xref: Orphanet:211252 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true
consider: MedDRA:10025532 {source="Orphanet:211252/e", source="Orphanet:211252"}

[Term]
id: MONDO:0016233
name: obsolete rare lymphatic system malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:211255"}
xref: GARD:20463 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:1200881 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:211255 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016234
name: obsolete rare arteriovenous malformation
def: "OBSOLETE. Rare arteriovenous malformation." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:211266"}
synonym: "rare arteriovenous hemangioma/malformation" EXACT [MONDO:patterns/rare]
synonym: "rare arteriovenous malformation" EXACT [MONDO:patterns/rare]
xref: GARD:20464 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q27.3 {source="Orphanet:211266", source="Orphanet:211266/e"}
xref: MedDRA:10003193 {source="Orphanet:211266", source="Orphanet:211266/e"}
xref: MESH:D001165 {source="MONDO:relatedTo", source="Orphanet:211266", source="Orphanet:211266/e"}
xref: Orphanet:211266 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001256

[Term]
id: MONDO:0016235
name: obsolete complex vascular malformation with associated anomalies
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular anomaly'
subset: ordo_group_of_disorders {source="Orphanet:211277"}
synonym: "hemangiolymphangioma" EXACT [Orphanet:211277]
xref: GARD:20465 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:211277 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019063

[Term]
id: MONDO:0016236
name: kaposiform hemangioendothelioma
def: "Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions." [Orphanet:2122]
subset: gard_rare {source="GARD:3077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2122"}
subset: orphanet_rare {source="Orphanet:2122"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital cutaneous multifocal kaposiform hemangioendothelioma" RELATED [GARD:0003077]
synonym: "Kaposiform hemangio-endothelioma" RELATED [GARD:0003077]
synonym: "Kaposiform hemangioendothelioma" EXACT [NCIT:C27510]
synonym: "KH" RELATED ABBREVIATION [GARD:0003077]
synonym: "KHE" RELATED ABBREVIATION [GARD:0003077]
xref: GARD:3077 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:2122", source="Orphanet:2122/ntbt"}
xref: MEDGEN:234548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537007 {source="Orphanet:2122", source="MONDO:equivalentTo", source="Orphanet:2122/e"}
xref: NCIT:C27510 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:2122 {source="MONDO:equivalentTo"}
xref: SCTID:403983000 {source="MONDO:equivalentTo"}
xref: UMLS:C1367420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234548"}
is_a: MONDO:0006424 {source="Orphanet:2122"} ! soft tissue neoplasm
is_a: MONDO:0021121 {source="MESH:C537007", source="NCIT:C27510"} ! hemangioendothelioma
is_a: MONDO:0024296 {source="MONDO:Redundant", source="Orphanet:2122"} ! vascular neoplasm
disjoint_from: MONDO:0018736 ! kaposiform lymphangiomatosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228", source="MONDO:0019099"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma" xsd:anyURI {source="GARD:0003077"}

[Term]
id: MONDO:0016237
name: diffuse neonatal hemangiomatosis
def: "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges." [Orphanet:2123]
subset: gard_rare {source="GARD:1861", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2123"}
subset: ordo_malformation_syndrome {source="Orphanet:2123"}
subset: orphanet_rare {source="Orphanet:2123"}
subset: rare
xref: GARD:1861 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2123/ntbt", source="Orphanet:2123"}
xref: MEDGEN:96888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2123 {source="MONDO:equivalentTo"}
xref: SCTID:254782003 {source="MONDO:equivalentTo"}
xref: UMLS:C0474965 {source="MEDGEN:96888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024296 {source="Orphanet:2123"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis" xsd:anyURI {source="GARD:0001861"}

[Term]
id: MONDO:0016238
name: solitary fibrous tumor
def: "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia)." [Orphanet:2126]
subset: gard_rare {source="GARD:15014", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2126"}
subset: orphanet_rare {source="Orphanet:2126"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemangiopericytoma" RELATED [NCIT:C7634]
synonym: "localised fibrous mesothelioma" EXACT OMO:0003005 []
synonym: "localised fibrous tumour" EXACT OMO:0003005 []
synonym: "localized fibrous mesothelioma" EXACT [NCIT:C7634]
synonym: "localized fibrous tumor" EXACT [NCIT:C7634]
synonym: "SFT" EXACT ABBREVIATION [NCIT:C7634]
synonym: "solitary fibrous tumor" EXACT [NCIT:C7634]
synonym: "solitary fibrous tumor/hemangiopericytoma" RELATED [ONCOTREE:SFT]
synonym: "submesothelial fibroma" EXACT [NCIT:C7634]
xref: GARD:15014 {source="MONDO:GARD"}
xref: ICD10CM:D21.9 {source="Orphanet:2126/ntbt", source="Orphanet:2126"}
xref: ICD9:238.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8815/0 {source="NCIT:C7634"}
xref: ICDO:8815/1 {source="NCIT:C7634"}
xref: ICDO:9051/0 {source="NCIT:C7634"}
xref: MedDRA:10018825 {source="Orphanet:2126", source="Orphanet:2126/e"}
xref: MEDGEN:224764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006393 {source="MONDO:relatedTo", source="Orphanet:2126", source="Orphanet:2126/e"}
xref: MESH:D054364 {source="MONDO:equivalentTo"}
xref: NCIT:C7634 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:SFT {source="MONDO:equivalentTo"}
xref: Orphanet:2126 {source="MONDO:equivalentTo"}
xref: UMLS:C1266119 {source="MONDO:equivalentTo", source="MEDGEN:224764", source="MONDO:MEDGEN"}
is_a: MONDO:0006209 {source="NCIT:C7634"} ! fibroblastic neoplasm
relationship: disease_has_feature NCIT:C37123 {source="NCIT:C7634"} ! Neoplastic Spindle-Shaped to Round Cell

[Term]
id: MONDO:0016239
name: cystinosis
def: "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular." [Orphanet:213]
subset: gard_rare {source="GARD:6236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1028"}
subset: ordo_disorder {source="Orphanet:213"}
subset: orphanet_rare {source="Orphanet:213"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cystine diathesis" RELATED [GARD:0006236]
synonym: "cystine disease" RELATED [GARD:0006236]
synonym: "cystine storage disease" EXACT [DOID:1064]
synonym: "Cystinoses" RELATED [GARD:0006236]
synonym: "cystinosis" EXACT CLINGEN_LABEL []
synonym: "Protein defect of cystin transport" EXACT [Orphanet:213]
xref: DOID:1064 {source="MONDO:equivalentTo"}
xref: GARD:6236 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:213", source="Orphanet:213/ntbt", source="Orphanet:213/inclusion"}
xref: ICD10CM:E72.04 {source="DOID:1064", source="MONDO:equivalentTo"}
xref: icd11.foundation:733715856 {source="Orphanet:213", source="MONDO:equivalentTo"}
xref: MedDRA:10011777 {source="Orphanet:213", source="Orphanet:213/e"}
xref: MEDGEN:1384792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003554 {source="DOID:1064", source="Orphanet:213", source="MONDO:equivalentTo", source="Orphanet:213/e"}
xref: NANDO:1200161 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200571 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2976 {source="DOID:1064", source="MONDO:equivalentTo"}
xref: NORD:1028 {source="MONDO:NORD"}
xref: Orphanet:213 {source="DOID:1064", source="MONDO:equivalentTo"}
xref: SCTID:111398009 {source="DOID:1064"}
xref: SCTID:190681003 {source="DOID:1064", source="MONDO:equivalentTo"}
xref: SCTID:190683000 {source="DOID:1064"}
xref: SCTID:367374009 {source="DOID:1064"}
xref: SCTID:62332007 {source="DOID:1064"}
xref: UMLS:C4316899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1384792"}
is_a: MONDO:0003847 {source="MESH:D003554/inferred", source="MONDO:Redundant", source="NCIT:C2976", source="Orphanet:213/inferred"} ! hereditary disease
is_a: MONDO:0019246 {source="Orphanet:213"} ! inborn disorder of lysosomal amino acid transport
relationship: disease_disrupts GO:0080145 ! intracellular cysteine homeostasis
relationship: disease_has_location GO:0005764 ! lysosome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6236/cystinosis" xsd:anyURI {source="GARD:0006236"}

[Term]
id: MONDO:0016240
name: hemimelia
def: "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity." [Orphanet:2130]
subset: disease_grouping
subset: gard_rare {source="GARD:18761", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:2130"}
subset: rare
synonym: "longitudinal meromelia" EXACT [Orphanet:2130]
xref: GARD:18761 {source="MONDO:GARD"}
xref: ICD10CM:Q71.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"}
xref: ICD10CM:Q72.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"}
xref: ICD10CM:Q73.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"}
xref: MedDRA:10019464 {source="Orphanet:2130/e", source="Orphanet:2130"}
xref: MEDGEN:9194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34674 {source="MONDO:equivalentTo"}
xref: Orphanet:2130 {source="MONDO:equivalentTo"}
xref: Orphanet:498491 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:33076008 {source="MONDO:equivalentTo"}
xref: UMLS:C0018987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9194"}
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019713 {source="Orphanet:2130", source="Orphanet:2130/inferred"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0016241
name: alternating hemiplegia of childhood
def: "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." [Orphanet:2131]
subset: gard_rare {source="GARD:11", source="MONDO:GARD"}
subset: nord_rare {source="NORD:758", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2131"}
subset: orphanet_rare {source="Orphanet:2131"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal hypoplasia congenita" EXACT [NCIT:C35261]
synonym: "AHC" EXACT ABBREVIATION [DOID:0050635, Orphanet:2131]
synonym: "alternating hemiplegia" RELATED [GARD:0000011]
synonym: "alternating hemiplegia of childhood" EXACT [MONDO:patterns/childhood]
synonym: "alternating hemiplegia syndrome" RELATED [GARD:0000011]
synonym: "childhood alternating hemiplegia" EXACT [MONDO:design_pattern]
synonym: "congenital adrenal gland hypoplasia" EXACT [NCIT:C35261]
synonym: "congenital adrenal Hypoplasia" EXACT [NCIT:C35261]
synonym: "paediatric alternating hemiplegia" EXACT OMO:0003005 []
synonym: "pediatric alternating hemiplegia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: DOID:0050635 {source="MONDO:equivalentTo"}
xref: GARD:11 {source="MONDO:GARD"}
xref: ICD10CM:G98 {source="Orphanet:2131/attributed", source="Orphanet:2131/ntbt", source="DOID:0050635", source="Orphanet:2131"}
xref: MEDGEN:90925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536589 {source="Orphanet:2131/e", source="MONDO:equivalentTo", source="Orphanet:2131"}
xref: NANDO:1200403 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200525 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100239 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200357 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200883 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35261 {source="MONDO:equivalentTo"}
xref: NORD:758 {source="MONDO:NORD"}
xref: OMIMPS:104290 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2131 {source="GARD:0000011", source="MONDO:equivalentTo", source="DOID:0050635"}
xref: SCTID:230466004 {source="MONDO:equivalentTo"}
xref: UMLS:C0338488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90925"}
is_a: MONDO:0001170 {source="DOID:0050635", source="MESH:C536589"} ! hemiplegia
is_a: MONDO:0016210 {source="MONDO:Redundant", source="Orphanet:2131"} ! alternating hemiplegia
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
intersection_of: MONDO:0016210 ! alternating hemiplegia
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:104290"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0016242
name: hemoglobin C disease
def: "Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia)." [Orphanet:2132]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2132"}
subset: orphanet_rare {source="Orphanet:2132"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hb C disease" RELATED [GARD:0002640]
synonym: "Hb-C disease" EXACT [DOID:2859]
xref: DOID:2859 {source="MONDO:equivalentTo"}
xref: ICD10CM:D58.2 {source="Orphanet:2132", source="Orphanet:2132/attributed", source="Orphanet:2132/ntbt", source="DOID:2859"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10018883 {source="Orphanet:2132", source="Orphanet:2132/e"}
xref: MEDGEN:6789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531699 {source="MONDO:equivalentTo"}
xref: MESH:D006445 {source="Orphanet:2132", source="MONDO:equivalentTo", source="Orphanet:2132/e", source="DOID:2859"}
xref: NANDO:2200635 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34675 {source="MONDO:equivalentTo", source="DOID:2859"}
xref: Orphanet:2132 {source="MONDO:equivalentTo"}
xref: SCTID:51053007 {source="MONDO:equivalentTo", source="DOID:2859"}
xref: UMLS:C0019021 {source="MEDGEN:6789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002280 {source="Orphanet:2132", source="Orphanet:2132/inferred"} ! anemia
is_a: MONDO:0019050 {source="DOID:2859", source="MESH:C531699/inferred", source="MESH:D006445", source="NCIT:C34675", source="Orphanet:2132"} ! inherited hemoglobinopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease" xsd:anyURI {source="GARD:0002640"}

[Term]
id: MONDO:0016243
name: hemoglobin E disease
def: "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." [Orphanet:2133]
subset: gard_rare {source="GARD:2641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2133"}
subset: orphanet_rare {source="Orphanet:2133"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hb-E disease" EXACT [DOID:5379]
synonym: "hemoglobin E disease" EXACT [DOID:5379, NCIT:C35287]
xref: DOID:5379 {source="MONDO:equivalentTo"}
xref: GARD:2641 {source="MONDO:GARD"}
xref: ICD10CM:D58.2 {source="Orphanet:2133", source="DOID:5379", source="Orphanet:2133/attributed", source="Orphanet:2133/ntbt"}
xref: icd11.foundation:1898135714 {source="Orphanet:2133", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10053215 {source="Orphanet:2133", source="Orphanet:2133/e"}
xref: MEDGEN:68658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35287 {source="DOID:5379", source="MONDO:equivalentTo"}
xref: Orphanet:2133 {source="MONDO:equivalentTo"}
xref: SCTID:25065001 {source="DOID:5379", source="MONDO:equivalentTo"}
xref: UMLS:C0238159 {source="MEDGEN:68658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002280 {source="Orphanet:2133", source="Orphanet:2133/inferred"} ! anemia
is_a: MONDO:0019050 {source="DOID:5379", source="NCIT:C35287", source="Orphanet:2133"} ! inherited hemoglobinopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease" xsd:anyURI {source="GARD:0002641"}

[Term]
id: MONDO:0016244
name: atypical hemolytic-uremic syndrome
def: "A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction." [Orphanet:2134]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8702", source="MONDO:GARD"}
subset: nord_rare {source="NORD:822", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2134"}
subset: orphanet_rare {source="Orphanet:2134"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aHUS" EXACT [GARD:0008702, Orphanet:2134]
synonym: "Atypical Hemolytic Uremic Syndrome" EXACT [NORD:822]
synonym: "atypical hemolytic uremic syndrome" EXACT [NCIT:C123223]
synonym: "atypical HUS" EXACT [GARD:0008702, Orphanet:2134]
synonym: "D-HUS" EXACT [Orphanet:2134]
synonym: "D-minus hemolytic uremic syndrome (D-HUS)" RELATED [GARD:0006240]
synonym: "hemolytic-uremic syndrome without diarrhea" EXACT [Orphanet:2134]
synonym: "hemolytic-uremic syndrome without diarrhoea" EXACT OMO:0003005 []
synonym: "HUS, atypical" RELATED [GARD:0008702]
synonym: "non-diarrhea-associated hemolytic uremic syndrome" EXACT [NCIT:C123223]
xref: DOID:0080301 {source="MONDO:equivalentTo"}
xref: GARD:8702 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:2134/attributed", source="Orphanet:2134/ntbt", source="Orphanet:2134"}
xref: MEDGEN:444141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538266 {source="Orphanet:2134", source="Orphanet:2134/e"}
xref: MESH:D065766 {source="MONDO:equivalentTo"}
xref: NANDO:1200473 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200474 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200131 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200641 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123223 {source="MONDO:equivalentTo"}
xref: NORD:822 {source="MONDO:NORD"}
xref: Orphanet:2134 {source="GARD:0008702", source="DOID:0080301", source="MONDO:equivalentTo"}
xref: UMLS:C2931788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444141"}
is_a: MONDO:0001549 {source="MESH:D065766"} ! hemolytic-uremic syndrome
is_a: MONDO:0002254 {source="NCIT:C123223"} ! syndromic disease
is_a: MONDO:0003832 {source="DOID:0080301"} ! complement deficiency
is_a: MONDO:0019737 {source="MESH:D065766/inferred", source="Orphanet:2134"} ! thrombotic microangiopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0003664 {source="Orphanet:2134", source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
relationship: excluded_subClassOf MONDO:0005240 {source="Orphanet:2134", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015910", source="MONDO:0020030"} ! rare

[Term]
id: MONDO:0016245
name: obsolete ovarian cancer
is_obsolete: true
replaced_by: MONDO:0008170

[Term]
id: MONDO:0016246
name: obsolete adenocarcinoma of ovary
is_obsolete: true
replaced_by: MONDO:0002752

[Term]
id: MONDO:0016248
name: familial ovarian cancer
def: "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:20467", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial ovarian cancer" EXACT CLINGEN_LABEL []
synonym: "familial ovarian malignant tumor" EXACT [Orphanet:213517]
synonym: "familial ovarian malignant tumour" EXACT OMO:0003005 []
synonym: "hereditary ovarian cancer" EXACT [MONDO:patterns/hereditary]
xref: GARD:20467 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:213517", source="Orphanet:213517/attributed", source="Orphanet:213517/ntbt"}
xref: MEDGEN:1803368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213517 {source="MONDO:equivalentTo"}
xref: UMLS:C5679802 {source="MEDGEN:1803368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0008170 ! ovarian cancer
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015981 {source="MONDO:Entailed", source="Orphanet:213517", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited gynecological tumor
relationship: excluded_subClassOf MONDO:0018365 {source="Orphanet:213517", source="https://orcid.org/0000-0001-5208-3432"} ! malignant non-epithelial tumor of ovary
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4889" xsd:anyURI

[Term]
id: MONDO:0016249
name: hereditary site-specific ovarian cancer syndrome
def: "Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." [https://orcid.org/0000-0001-5208-3432, Orphanet:213524]
subset: gard_rare {source="GARD:20468", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20468 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:213524/attributed", source="Orphanet:213524/ntbt", source="Orphanet:213524"}
xref: MEDGEN:1650574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213524 {source="MONDO:equivalentTo"}
xref: UMLS:C4749652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1650574"}
is_a: MONDO:0016248 {source="Orphanet:213524"} ! familial ovarian cancer

[Term]
id: MONDO:0016250
name: obsolete rare adenocarcinoma of the breast
def: "OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence." [MONDO:patterns/rare]
subset: ordo_disorder {source="Orphanet:213528"}
synonym: "rare breast adenocarcinoma" EXACT [MONDO:patterns/rare]
xref: GARD:12773 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:C50.0 {source="Orphanet:213528", source="Orphanet:213528/btnt"}
xref: ICD10CM:C50.1 {source="Orphanet:213528", source="Orphanet:213528/btnt"}
xref: ICD10CM:C50.2 {source="MONDO:relatedTo", source="Orphanet:213528", source="Orphanet:213528/btnt"}
xref: ICD10CM:C50.3 {source="MONDO:relatedTo", source="Orphanet:213528", source="Orphanet:213528/btnt"}
xref: ICD10CM:C50.4 {source="Orphanet:213528", source="Orphanet:213528/btnt"}
xref: ICD10CM:C50.5 {source="Orphanet:213528", source="Orphanet:213528/btnt"}
xref: ICD10CM:C50.6 {source="MONDO:relatedTo", source="Orphanet:213528", source="Orphanet:213528/btnt"}
xref: ICD10CM:C50.8 {source="Orphanet:213528", source="Orphanet:213528/btnt"}
xref: Orphanet:213528 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12773/rare-adenocarcinoma-of-the-breast" xsd:anyURI {source="GARD:0012773"}
is_obsolete: true
replaced_by: MONDO:0004988

[Term]
id: MONDO:0016251
name: obsolete salivary gland type cancer of the breast
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003185

[Term]
id: MONDO:0016252
name: obsolete rare uterine cancer
def: "OBSOLETE. Rare uterine cancer." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:213564"}
synonym: "rare cancer of uterus" EXACT [Orphanet:213564]
synonym: "rare malignant tumor of uterus" EXACT [Orphanet:213564]
synonym: "rare uterine cancer" EXACT [MONDO:patterns/rare]
synonym: "rare uterine malignant tumor" EXACT [Orphanet:213564]
xref: GARD:20469 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:213564 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002715

[Term]
id: MONDO:0016253
name: obsolete rare cancer of corpus uteri
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:213569"}
synonym: "rare malignant tumor of corpus uteri" EXACT [Orphanet:213569]
xref: GARD:20470 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:213569 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004992

[Term]
id: MONDO:0016254
name: obsolete rare variants of adenocarcinoma of the corpus uteri
xref: GARD:20471 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:C54.1 {source="Orphanet:213574", source="Orphanet:213574/ntbt"}
xref: Orphanet:213574 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0003629

[Term]
id: MONDO:0016255
name: uterine corpus mixed epithelial and mesenchymal neoplasm
def: "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma." [NCIT:C40181]
comment: Editor note: Consider placing Orphanet equiv with subclass (malignant form)
subset: disease_grouping
subset: gard_rare {source="GARD:20472", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:213589"}
subset: rare
synonym: "body of uterus mixed neoplasm" EXACT [MONDO:patterns/location]
synonym: "malignant mixed epithelial and mesenchymal tumor of corpus uteri" RELATED [Orphanet:213589]
synonym: "malignant mixed epithelial and mesenchymal tumour of corpus uteri" RELATED OMO:0003005 []
synonym: "mixed epithelial and mesenchymal cancer of corpus uteri" NARROW [Orphanet:213589]
synonym: "uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40181]
synonym: "uterine corpus mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40181]
synonym: "uterine corpus mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 []
xref: GARD:20472 {source="MONDO:GARD"}
xref: ICD10CM:C54.0 {source="Orphanet:213589/btnt", source="Orphanet:213589"}
xref: ICD10CM:C54.1 {source="Orphanet:213589/btnt", source="Orphanet:213589"}
xref: ICD10CM:C54.2 {source="Orphanet:213589/btnt", source="Orphanet:213589"}
xref: ICD10CM:C54.3 {source="Orphanet:213589/btnt", source="Orphanet:213589"}
xref: ICD10CM:C54.8 {source="Orphanet:213589/btnt", source="Orphanet:213589"}
xref: MEDGEN:311425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40181 {source="MONDO:equivalentTo"}
xref: Orphanet:213589 {source="MONDO:equivalentTo"}
xref: UMLS:C1519858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:311425"}
is_a: MONDO:0021043 {source="MONDO:Redundant", source="NCIT:C40181"} ! mixed neoplasm
is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C40181"} ! corpus uteri neoplasm
intersection_of: MONDO:0021043 ! mixed neoplasm
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: excluded_subClassOf MONDO:0016253 {source="Orphanet:213589", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare cancer of corpus uteri

[Term]
id: MONDO:0016256
name: Hennekam syndrome
def: "Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." [Orphanet:2136]
subset: gard_rare {source="GARD:3318", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2136"}
subset: ordo_malformation_syndrome {source="Orphanet:2136"}
subset: orphanet_rare {source="Orphanet:2136"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hennekam lymphangiectasia lymphedema syndrome" EXACT [GARD:0003318]
synonym: "Hennekam lymphangiectasia-lymphedema syndrome" EXACT [DOID:0060366]
synonym: "intestinal lymphagiectasia lymphedema intellectual deficit syndrome" RELATED [GARD:0003318]
synonym: "lymphangiectasies and lymphedema Hennekam type" RELATED [GARD:0003318]
synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [DOID:0060366]
synonym: "lymphedema-lymphangiectasia-intellectual disability syndrome" EXACT [Orphanet:2136]
xref: DOID:0060366 {source="MONDO:equivalentTo"}
xref: GARD:3318 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2136/attributed", source="Orphanet:2136/ntbt", source="Orphanet:2136"}
xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537255 {source="DOID:0060366"}
xref: OMIMPS:235510 {source="MONDO:equivalentTo"}
xref: Orphanet:2136 {source="DOID:0060366", source="MONDO:equivalentTo"}
xref: SCTID:234146006 {source="DOID:0060366", source="MONDO:equivalentTo"}
xref: UMLS:C0340834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137946"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2136"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2136", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:235510"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016257
name: obsolete adenosarcoma of the corpus uteri
comment: Duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/372" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002878

[Term]
id: MONDO:0016258
name: uterine corpus carcinofibroma
def: "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component." [NCIT:C40182]
subset: gard_rare {source="GARD:20474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213605"}
subset: orphanet_rare {source="Orphanet:213605"}
subset: rare
synonym: "Carcinofibroma of the corpus uteri" RELATED [Orphanet:213605]
synonym: "uterine corpus Carcinofibroma" EXACT [NCIT:C40182]
xref: GARD:20474 {source="MONDO:GARD"}
xref: ICD10CM:C54.0 {source="Orphanet:213605", source="Orphanet:213605/btnt"}
xref: ICD10CM:C54.1 {source="Orphanet:213605", source="Orphanet:213605/btnt"}
xref: ICD10CM:C54.2 {source="Orphanet:213605", source="Orphanet:213605/btnt"}
xref: ICD10CM:C54.3 {source="Orphanet:213605", source="Orphanet:213605/btnt"}
xref: ICD10CM:C54.8 {source="Orphanet:213605", source="Orphanet:213605/btnt"}
xref: ICDO:8934/3 {source="NCIT:C40182"}
xref: MEDGEN:364874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40182 {source="MONDO:equivalentTo"}
xref: Orphanet:213605 {source="MONDO:equivalentTo"}
xref: UMLS:C1883485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:364874"}
is_a: MONDO:0002879 {source="NCIT:C40182"} ! uterine body mixed cancer
is_a: MONDO:0016255 {source="MONDO:Redundant", source="NCIT:C40182/inferred", source="Orphanet:213605"} ! uterine corpus mixed epithelial and mesenchymal neoplasm

[Term]
id: MONDO:0016259
name: carcinosarcoma of the corpus uteri
def: "An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component." [NCIT:C9180]
subset: gard_rare {source="GARD:12335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213610"}
subset: orphanet_rare {source="Orphanet:213610"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "body of uterus carcinosarcoma" EXACT [MONDO:patterns/location]
synonym: "carcinosarcoma of corpus uteri" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of the corpus uteri" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of the uterine body" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of the uterine corpus" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of the uterus" NARROW [NCIT:C9180]
synonym: "carcinosarcoma of uterine body" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of uterine corpus" EXACT [NCIT:C9180]
synonym: "carcinosarcoma of uterus" EXACT [NCIT:C9180]
synonym: "corpus uteri malignant mixed mesodermal tumor" EXACT [NCIT:C9180]
synonym: "corpus uteri malignant mixed mesodermal tumour" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal neoplasm of the uterine body" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of the uterine corpus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of the uterus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of uterine body" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of uterine corpus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal neoplasm of uterus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of the uterine body" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of the uterine corpus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of the uterus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of uterine body" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of uterine corpus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumor of uterus" EXACT [NCIT:C9180]
synonym: "malignant mixed mesodermal tumour of the uterine body" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal tumour of the uterine corpus" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal tumour of the uterus" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal tumour of uterine body" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal tumour of uterine corpus" EXACT OMO:0003005 []
synonym: "malignant mixed mesodermal tumour of uterus" EXACT OMO:0003005 []
synonym: "malignant mixed Mullerian tumor of the corpus uteri" EXACT [Orphanet:213610]
synonym: "malignant mixed Mullerian tumour of the corpus uteri" EXACT OMO:0003005 []
synonym: "malignant mixed müllerian tumor of corpus uteri" RELATED [GARD:0012335]
synonym: "malignant mixed Müllerian tumor of the corpus uteri" EXACT [Orphanet:213610]
synonym: "malignant mixed müllerian tumour of corpus uteri" RELATED OMO:0003005 []
synonym: "malignant mixed Müllerian tumour of the corpus uteri" EXACT OMO:0003005 []
synonym: "mixed Mullerian cancer of corpus uteri" EXACT [Orphanet:213610]
synonym: "mixed Mullerian sarcoma of the uterus" EXACT [NCIT:C9180]
synonym: "mixed Mullerian sarcoma of uterus" EXACT [NCIT:C9180]
synonym: "mixed Müllerian cancer of corpus uteri" EXACT [Orphanet:213610]
synonym: "mixed Müllerian sarcoma of the uterus" EXACT [NCIT:C9180]
synonym: "mixed Müllerian sarcoma of uterus" EXACT [NCIT:C9180]
synonym: "uterine body carcinosarcoma" EXACT [NCIT:C9180]
synonym: "uterine body malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180]
synonym: "uterine body malignant mixed mesodermal tumor" EXACT [NCIT:C9180]
synonym: "uterine body malignant mixed mesodermal tumour" EXACT OMO:0003005 []
synonym: "uterine carcinosarcoma" BROAD [NCIT:C9180, Orphanet:213610]
synonym: "uterine corpus carcinosarcoma" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 []
synonym: "uterine corpus malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 []
synonym: "uterine corpus malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed mesodermal tumour" EXACT OMO:0003005 []
synonym: "uterine corpus malignant mixed Mullerian neoplasm" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed Mullerian tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed Mullerian tumour" EXACT OMO:0003005 []
synonym: "uterine corpus malignant mixed Müllerian neoplasm" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed Müllerian tumor" EXACT [NCIT:C9180]
synonym: "uterine corpus malignant mixed Müllerian tumour" EXACT OMO:0003005 []
synonym: "uterine malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180]
synonym: "uterine malignant mixed mesodermal tumor" EXACT [NCIT:C9180]
synonym: "uterine malignant mixed mesodermal tumour" EXACT OMO:0003005 []
synonym: "uterine mixed Mullerian sarcoma" EXACT [NCIT:C9180]
synonym: "uterine mixed Müllerian sarcoma" EXACT [NCIT:C9180]
xref: GARD:12335 {source="MONDO:GARD"}
xref: ICD10CM:C54.9 {source="Orphanet:213610", source="Orphanet:213610/ntbt"}
xref: MEDGEN:316458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9180 {source="MONDO:equivalentTo"}
xref: Orphanet:213610 {source="MONDO:equivalentTo"}
xref: UMLS:C1704376 {source="MEDGEN:316458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002879 {source="MONDO:Redundant", source="NCIT:C9180"} ! uterine body mixed cancer
is_a: MONDO:0006003 {source="MONDO:Redundant", source="NCIT:C9180"} ! uterine corpus cancer
is_a: MONDO:0006485 {source="MONDO:Redundant", source="NCIT:C9180"} ! uterine carcinosarcoma
is_a: MONDO:0016255 {source="MONDO:Redundant", source="NCIT:C9180/inferred", source="Orphanet:213610"} ! uterine corpus mixed epithelial and mesenchymal neoplasm
intersection_of: MONDO:0002928 ! carcinosarcoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0016260
name: uterine corpus rhabdomyosarcoma
def: "A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor." [NCIT:C127058]
subset: gard_rare {source="GARD:20475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213615"}
subset: orphanet_rare {source="Orphanet:213615"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "body of uterus rhabdomyosarcoma" EXACT []
synonym: "body of uterus rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
synonym: "rhabdomyosarcoma (disease) of body of uterus" EXACT []
synonym: "rhabdomyosarcoma of the corpus uteri" RELATED [Orphanet:213615]
synonym: "uterine corpus rhabdomyosarcoma" EXACT [NCIT:C127058]
xref: GARD:20475 {source="MONDO:GARD"}
xref: ICD10CM:C54.2 {source="Orphanet:213615", source="Orphanet:213615/ntbt"}
xref: MEDGEN:925579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C127058 {source="MONDO:equivalentTo"}
xref: Orphanet:213615 {source="MONDO:equivalentTo"}
xref: UMLS:C4288047 {source="MEDGEN:925579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005210 {source="MONDO:Redundant", source="NCIT:C127058", source="Orphanet:213615"} ! uterine corpus sarcoma
is_a: MONDO:0005212 {source="MONDO:Redundant", source="NCIT:C127058"} ! rhabdomyosarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0016261
name: obsolete sarcoma of the corpus uteri
is_obsolete: true
replaced_by: MONDO:0005210

[Term]
id: MONDO:0016262
name: leiomyosarcoma of the corpus uteri
def: "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6340]
subset: gard_rare {source="GARD:20477", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1817", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213625"}
subset: orphanet_rare {source="Orphanet:213625"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "body of uterus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6340]
synonym: "corpus uteri leiomyosarcoma" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma - uterus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of body of uterus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of corpus uteri" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the body of uterus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the corpus uteri" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the uterine body" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the uterine corpus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of the uterus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of uterine body" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of uterine corpus" EXACT [NCIT:C6340]
synonym: "leiomyosarcoma of uterus" EXACT [NCIT:C6340]
synonym: "uterine body leiomyosarcoma" EXACT [NCIT:C6340]
synonym: "uterine corpus leiomyosarcoma" EXACT [NCIT:C6340]
synonym: "Uterine Leiomyosarcoma" EXACT [NORD:1817]
synonym: "uterine leiomyosarcoma" RELATED [ONCOTREE:ULMS]
synonym: "uterus leiomyosarcoma" RELATED [DOID:5289]
xref: DOID:5289 {source="MONDO:equivalentTo"}
xref: EFO:1001974 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20477 {source="MONDO:GARD"}
xref: ICD10CM:C54.2 {source="Orphanet:213625", source="Orphanet:213625/ntbt"}
xref: MEDGEN:83679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6340 {source="DOID:5289", source="MONDO:equivalentTo"}
xref: NORD:1817 {source="MONDO:NORD"}
xref: ONCOTREE:ULMS {source="MONDO:equivalentTo"}
xref: Orphanet:213625 {source="MONDO:equivalentTo"}
xref: SCTID:447389009 {source="DOID:5289", source="MONDO:equivalentTo"}
xref: UMLS:C0280631 {source="MONDO:equivalentTo", source="MEDGEN:83679", source="MONDO:MEDGEN"}
is_a: MONDO:0005058 {source="DOID:5289", source="MONDO:Redundant", source="NCIT:C6340/inferred"} ! leiomyosarcoma
is_a: MONDO:0005210 {source="DOID:5289", source="MONDO:Redundant", source="NCIT:C6340", source="ONCOTREE:ULMS/inferred", source="Orphanet:213625"} ! uterine corpus sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0016263
name: primitive neuroectodermal tumor of the corpus uteri
def: "A primitive neuroectodermal tumor that involves the body of uterus." [MONDO:patterns/location]
subset: gard_rare {source="GARD:20478", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213630"}
subset: orphanet_rare {source="Orphanet:213630"}
subset: rare
synonym: "body of uterus primitive neuroectodermal tumor" EXACT [MONDO:patterns/location]
synonym: "body of uterus primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "malignant peripheral neuroectodermal tumor of the corpus uteri" EXACT [Orphanet:213630]
synonym: "malignant peripheral neuroectodermal tumour of the corpus uteri" EXACT OMO:0003005 []
synonym: "peripheral neuroectodermal cancer of the corpus uteri" EXACT [Orphanet:213630]
synonym: "primitive neuroectodermal tumor of body of uterus" EXACT []
synonym: "primitive neuroectodermal tumour of body of uterus" EXACT OMO:0003005 []
xref: GARD:20478 {source="MONDO:GARD"}
xref: ICD10CM:C54.0 {source="Orphanet:213630", source="Orphanet:213630/btnt"}
xref: ICD10CM:C54.1 {source="Orphanet:213630", source="Orphanet:213630/btnt"}
xref: ICD10CM:C54.2 {source="Orphanet:213630", source="Orphanet:213630/btnt"}
xref: ICD10CM:C54.3 {source="Orphanet:213630", source="Orphanet:213630/btnt"}
xref: ICD10CM:C54.8 {source="Orphanet:213630", source="Orphanet:213630/btnt"}
xref: MEDGEN:1640822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213630 {source="MONDO:equivalentTo"}
xref: UMLS:C4707724 {source="MEDGEN:1640822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005462 ! primitive neuroectodermal tumor
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0016264
name: autoimmune hepatitis
def: "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." [NCIT:C27029]
subset: gard_rare {source="GARD:5871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1897"}
subset: ordo_disorder {source="Orphanet:2137"}
subset: orphanet_rare {source="Orphanet:2137"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIH" RELATED ABBREVIATION [GARD:0005871]
synonym: "autoimmune chronic active hepatitis" NARROW [DOID:2048, https://emedicine.medscape.com/article/172356-overview#a3]
synonym: "autoimmune chronic hepatitis" RELATED [GARD:0005871]
synonym: "autoimmune hepatitis" EXACT [DOID:2048, NCIT:C27029]
synonym: "autoimmune hepatitis with centrilobular necrosis" NARROW [DOID:2048]
synonym: "autoimmune liver disease" BROAD [https://emedicine.medscape.com/article/172356-overview#a3]
synonym: "chronic autoimmune hepatitis" NARROW [Orphanet:2137]
xref: DOID:2048 {source="EFO:0005676", source="MONDO:equivalentTo"}
xref: EFO:0005676 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5871 {source="MONDO:GARD"}
xref: ICD10CM:K75.4 {source="DOID:2048", source="Orphanet:2137", source="MONDO:equivalentTo", source="Orphanet:2137/e"}
xref: icd11.foundation:1235727122 {source="Orphanet:2137", source="MONDO:equivalentTo"}
xref: ICD9:571.42 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10003827 {source="Orphanet:2137", source="Orphanet:2137/e"}
xref: MEDGEN:1666753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019693 {source="DOID:2048", source="MONDO:equivalentTo"}
xref: NANDO:1200441 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200442 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100264 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27029 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo"}
xref: NCIT:C27778 {source="DOID:2048"}
xref: NORD:1897 {source="MONDO:NORD"}
xref: Orphanet:2137 {source="MONDO:equivalentTo"}
xref: SCTID:197284004 {source="DOID:2048"}
xref: SCTID:408335007 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo"}
xref: SCTID:68784009 {source="DOID:2048"}
xref: UMLS:C4721555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1666753"}
is_a: MONDO:0000588 {source="DOID:2048", source="MONDO:Entailed"} ! autoimmune disorder of gastrointestinal tract
is_a: MONDO:0002251 {source="MESH:D019693/inferred", source="MONDO:Redundant", source="NCIT:C27029"} ! hepatitis
intersection_of: MONDO:0002251 ! hepatitis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare

[Term]
id: MONDO:0016265
name: obsolete endometrial stromal sarcoma
is_obsolete: true
replaced_by: MONDO:0006745

[Term]
id: MONDO:0016266
name: squamous cell carcinoma of the corpus uteri
def: "A squamous cell carcinoma that involves the body of uterus." [MONDO:patterns/location]
subset: gard_rare {source="GARD:20479", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213716"}
subset: orphanet_rare {source="Orphanet:213716"}
subset: rare
synonym: "body of uterus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial squamous cell carcinoma" RELATED [Orphanet:213716]
xref: GARD:20479 {source="MONDO:GARD"}
xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:213716/ntbt", source="Orphanet:213716"}
xref: MEDGEN:1633992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213716 {source="MONDO:equivalentTo"}
xref: UMLS:C4707099 {source="MONDO:equivalentTo", source="MEDGEN:1633992", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="Orphanet:213716"} ! cancer
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare

[Term]
id: MONDO:0016267
name: undifferentiated carcinoma of the corpus uteri
def: "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported." [Orphanet:213721]
subset: gard_rare {source="GARD:20480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213721"}
subset: orphanet_rare {source="Orphanet:213721"}
subset: rare
synonym: "body of uterus undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial undifferentiated carcinoma" RELATED [Orphanet:213721]
xref: GARD:20480 {source="MONDO:GARD"}
xref: ICD10CM:C50 {source="Orphanet:213721/ntbt", source="MONDO:relatedTo", source="Orphanet:213721"}
xref: MEDGEN:1638762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213721 {source="MONDO:equivalentTo"}
xref: UMLS:C4707822 {source="MEDGEN:1638762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="Orphanet:213721"} ! cancer
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare

[Term]
id: MONDO:0016268
name: papillary carcinoma of the corpus uteri
def: "A papillary carcinoma that involves the body of uterus." [MONDO:patterns/location]
comment: Editor note: check relationship to MONDO:0006196
subset: gard_rare {source="GARD:20481", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213726"}
subset: orphanet_rare {source="Orphanet:213726"}
subset: rare
synonym: "body of uterus papillary carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial capillary carcinoma" EXACT [Orphanet:213726]
xref: GARD:20481 {source="MONDO:GARD"}
xref: ICD10CM:C54.1 {source="Orphanet:213726", source="Orphanet:213726/ntbt"}
xref: MEDGEN:1805139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213726 {source="MONDO:equivalentTo"}
xref: UMLS:C5679804 {source="MEDGEN:1805139", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="Orphanet:213726"} ! cancer
intersection_of: MONDO:0006509 ! papillary carcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare

[Term]
id: MONDO:0016269
name: high-grade neuroendocrine carcinoma of the corpus uteri
def: "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated." [Orphanet:213731]
subset: gard_rare {source="GARD:20482", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213731"}
subset: orphanet_rare {source="Orphanet:213731"}
subset: rare
synonym: "high-grade neuroendocrine carcinoma of the uterine corpus" EXACT [Orphanet:213731]
synonym: "poorly differentiated neuroendocrine carcinoma of the corpus uteri" EXACT [Orphanet:213731]
synonym: "poorly differentiated neuroendocrine carcinoma of the endometrium" EXACT [Orphanet:213731]
xref: GARD:20482 {source="MONDO:GARD"}
xref: ICD10CM:C54.0 {source="Orphanet:213731", source="Orphanet:213731/btnt"}
xref: ICD10CM:C54.1 {source="Orphanet:213731", source="Orphanet:213731/btnt"}
xref: ICD10CM:C54.2 {source="Orphanet:213731", source="Orphanet:213731/btnt"}
xref: ICD10CM:C54.3 {source="Orphanet:213731", source="Orphanet:213731/btnt"}
xref: ICD10CM:C54.8 {source="Orphanet:213731", source="Orphanet:213731/btnt"}
xref: MEDGEN:1664315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213731 {source="MONDO:equivalentTo"}
xref: UMLS:C4751234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1664315"}
is_a: MONDO:0004992 {source="Orphanet:213731"} ! cancer
is_a: MONDO:0021650 {source="https://orcid.org/0000-0002-6601-2165"} ! uterine corpus neuroendocrine neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare

[Term]
id: MONDO:0016270
name: low-grade neuroendocrine tumor of the corpus uteri
def: "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." [Orphanet:213736]
subset: gard_rare {source="GARD:20483", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213736"}
subset: orphanet_rare {source="Orphanet:213736"}
subset: rare
synonym: "low-grade neuroendocrine tumor of the uterine corpus" EXACT [Orphanet:213736]
synonym: "low-grade neuroendocrine tumour of the uterine corpus" EXACT OMO:0003005 []
synonym: "well-differentiated neuroendocrine neoplasm of the endometrium" EXACT [Orphanet:213736]
synonym: "well-differentiated neuroendocrine tumor of the corpus uteri" EXACT [Orphanet:213736]
synonym: "well-differentiated neuroendocrine tumor of the endometrium" EXACT [Orphanet:213736]
synonym: "well-differentiated neuroendocrine tumour of the corpus uteri" EXACT OMO:0003005 []
synonym: "well-differentiated neuroendocrine tumour of the endometrium" EXACT OMO:0003005 []
xref: GARD:20483 {source="MONDO:GARD"}
xref: ICD10CM:C54.0 {source="Orphanet:213736", source="Orphanet:213736/btnt"}
xref: ICD10CM:C54.1 {source="Orphanet:213736", source="Orphanet:213736/btnt"}
xref: ICD10CM:C54.2 {source="Orphanet:213736", source="Orphanet:213736/btnt"}
xref: ICD10CM:C54.3 {source="Orphanet:213736", source="Orphanet:213736/btnt"}
xref: ICD10CM:C54.8 {source="Orphanet:213736", source="Orphanet:213736/btnt"}
xref: MEDGEN:1672976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213736 {source="MONDO:equivalentTo"}
xref: UMLS:C5190779 {source="MEDGEN:1672976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="Orphanet:213736"} ! cancer
is_a: MONDO:0021650 {source="https://orcid.org/0000-0002-6601-2165"} ! uterine corpus neuroendocrine neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare

[Term]
id: MONDO:0016271
name: adenoid cystic carcinoma of the corpus uteri
def: "A adenoid cystic carcinoma that involves the body of uterus." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "body of uterus adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial adenoid cystic carcinoma" EXACT [Orphanet:213741]
xref: ICD10CM:C54.0 {source="Orphanet:213741/btnt", source="Orphanet:213741"}
xref: ICD10CM:C54.1 {source="Orphanet:213741/btnt", source="Orphanet:213741"}
xref: ICD10CM:C54.2 {source="Orphanet:213741/btnt", source="Orphanet:213741"}
xref: ICD10CM:C54.3 {source="Orphanet:213741/btnt", source="Orphanet:213741"}
xref: ICD10CM:C54.8 {source="Orphanet:213741/btnt", source="Orphanet:213741"}
xref: Orphanet:213741 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0004992 {source="Orphanet:213741"} ! cancer
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016272
name: transitional cell carcinoma of the corpus uteri
def: "A transitional cell carcinoma that involves the body of uterus." [MONDO:patterns/location]
subset: gard_rare {source="GARD:20484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213746"}
subset: orphanet_rare {source="Orphanet:213746"}
subset: rare
synonym: "body of uterus transitional cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial transitional cell carcinoma" RELATED [Orphanet:213746]
xref: GARD:20484 {source="MONDO:GARD"}
xref: ICD10CM:C54.1 {source="Orphanet:213746", source="Orphanet:213746/ntbt"}
xref: MEDGEN:1676303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213746 {source="MONDO:equivalentTo"}
xref: UMLS:C5191668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676303"}
is_a: MONDO:0004992 {source="Orphanet:213746"} ! cancer
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare

[Term]
id: MONDO:0016273
name: malignant germ cell tumor of corpus uteri
def: "A malignant germ cell tumor that involves the body of uterus." [MONDO:patterns/location]
subset: gard_rare {source="GARD:20485", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213751"}
subset: orphanet_rare {source="Orphanet:213751"}
subset: rare
synonym: "body of uterus malignant germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "body of uterus malignant germ cell tumour" EXACT OMO:0003005 []
synonym: "germ cell cancer of corpus uteri" EXACT [Orphanet:213751]
synonym: "germ cell cancer of the corpus uteri" EXACT [Orphanet:213751]
synonym: "malignant germ cell tumor of the corpus uteri" RELATED [Orphanet:213751]
synonym: "malignant germ cell tumour of the corpus uteri" RELATED OMO:0003005 []
xref: GARD:20485 {source="MONDO:GARD"}
xref: ICD10CM:C54.0 {source="Orphanet:213751", source="Orphanet:213751/btnt"}
xref: ICD10CM:C54.1 {source="Orphanet:213751", source="Orphanet:213751/btnt"}
xref: ICD10CM:C54.2 {source="Orphanet:213751", source="Orphanet:213751/btnt"}
xref: ICD10CM:C54.3 {source="Orphanet:213751", source="Orphanet:213751/btnt"}
xref: ICD10CM:C54.8 {source="Orphanet:213751", source="Orphanet:213751/btnt"}
xref: MEDGEN:1655229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213751 {source="MONDO:equivalentTo"}
xref: UMLS:C4750753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1655229"}
is_a: MONDO:0004992 {source="Orphanet:213751"} ! cancer
intersection_of: MONDO:0006290 ! malignant germ cell tumor
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016253"} ! rare

[Term]
id: MONDO:0016274
name: obsolete rare cancer of cervix uteri
def: "OBSOLETE. Rare cervical cancer." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:213761"}
synonym: "rare cervical cancer" EXACT [MONDO:patterns/rare, Orphanet:213761]
synonym: "rare cervical malignant tumor" EXACT [Orphanet:213761]
synonym: "rare malignant tumor of cervix uteri" EXACT [Orphanet:213761]
xref: GARD:20486 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:213761 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002974

[Term]
id: MONDO:0016275
name: obsolete adenocarcinoma of cervix uteri
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4897" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005153

[Term]
id: MONDO:0016276
name: high-grade neuroendocrine carcinoma of the cervix uteri
def: "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent." [Orphanet:213777]
subset: gard_rare {source="GARD:20489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213777"}
subset: orphanet_rare {source="Orphanet:213777"}
subset: rare
synonym: "high-grade neuroendocrine carcinoma of the uterine cervix" EXACT [Orphanet:213777]
synonym: "poorly differentiated neuroendocrine carcinoma of the cervix uteri" EXACT [Orphanet:213777]
synonym: "poorly differentiated neuroendocrine cervical carcinoma" EXACT [Orphanet:213777]
xref: GARD:20489 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="Orphanet:213777/btnt", source="MONDO:relatedTo", source="Orphanet:213777"}
xref: ICD10CM:C53.1 {source="Orphanet:213777/btnt", source="Orphanet:213777"}
xref: ICD10CM:C53.8 {source="Orphanet:213777/btnt", source="Orphanet:213777"}
xref: MEDGEN:1668378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213777 {source="MONDO:equivalentTo"}
xref: UMLS:C4751235 {source="MONDO:equivalentTo", source="MEDGEN:1668378", source="MONDO:MEDGEN"}
is_a: MONDO:0002974 {source="Orphanet:213777"} ! cervical cancer
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare

[Term]
id: MONDO:0016277
name: malignant mixed epithelial and mesenchymal tumor of cervix uteri
subset: disease_grouping
subset: gard_rare {source="GARD:20490", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:213782"}
subset: rare
synonym: "cervical malignant mixed epithelial and mesenchymal tumor" EXACT [Orphanet:213782]
synonym: "cervical malignant mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 []
synonym: "mixed epithelial and mesenchymal cancer of cervix uteri" EXACT [Orphanet:213782]
xref: GARD:20490 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213782/btnt", source="Orphanet:213782"}
xref: ICD10CM:C53.1 {source="Orphanet:213782/btnt", source="Orphanet:213782"}
xref: ICD10CM:C53.8 {source="Orphanet:213782/btnt", source="Orphanet:213782"}
xref: MEDGEN:1843195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213782 {source="MONDO:equivalentTo"}
xref: UMLS:C5679806 {source="MEDGEN:1843195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002974 {source="Orphanet:213782"} ! cervical cancer
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare

[Term]
id: MONDO:0016278
name: obsolete carcinosarcoma of the cervix uteri
def: "OBSOLETE. Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, gray to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported." [Orphanet:213787]
is_obsolete: true
replaced_by: MONDO:0002877

[Term]
id: MONDO:0016279
name: obsolete adenosarcoma of the cervix uteri
def: "OBSOLETE. Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps." [Orphanet:213792]
is_obsolete: true
replaced_by: MONDO:0002876

[Term]
id: MONDO:0016280
name: sarcoma of cervix uteri
def: "A sarcoma involving a uterine cervix." [MONDO:patterns/sarcoma]
subset: disease_grouping
subset: gard_rare {source="GARD:20493", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:213797"}
subset: rare
synonym: "cervical malignant mesenchymal tumor" EXACT [Orphanet:213797]
synonym: "cervical malignant mesenchymal tumour" EXACT OMO:0003005 []
synonym: "cervical sarcoma" EXACT [Orphanet:213797]
synonym: "malignant mesenchymal tumor of cervix uteri" EXACT [Orphanet:213797]
synonym: "malignant mesenchymal tumour of cervix uteri" EXACT OMO:0003005 []
synonym: "sarcoma of uterine cervix" EXACT [MONDO:patterns/sarcoma]
synonym: "uterine cervix sarcoma" EXACT [MONDO:patterns/location]
xref: GARD:20493 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="Orphanet:213797", source="MONDO:relatedTo", source="Orphanet:213797/btnt"}
xref: ICD10CM:C53.1 {source="Orphanet:213797", source="Orphanet:213797/btnt"}
xref: ICD10CM:C53.8 {source="Orphanet:213797", source="Orphanet:213797/btnt"}
xref: MEDGEN:1842604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213797 {source="MONDO:equivalentTo"}
xref: UMLS:C5679807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842604"}
is_a: MONDO:0002974 {source="Orphanet:213797"} ! cervical cancer
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare

[Term]
id: MONDO:0016281
name: 46,XX ovotesticular disorder of sex development
def: "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." [Orphanet:2138]
subset: gard_rare {source="GARD:16585", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2138"}
subset: ordo_malformation_syndrome {source="Orphanet:2138"}
subset: orphanet_rare {source="Orphanet:2138"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XX ovotesticular DSD" EXACT [Orphanet:2138]
synonym: "ovotesticular differences of sex development" EXACT [NCIT:C127167]
synonym: "ovotesticular disorders of sex development" EXACT [NCIT:C127167]
synonym: "ovotesticular DSD" EXACT [NCIT:C127167, OMIM:400045]
synonym: "true hermaphroditism" RELATED [Orphanet:2138]
xref: GARD:16585 {source="MONDO:GARD"}
xref: ICD10CM:Q56.0 {source="Orphanet:2138", source="Orphanet:2138/attributed", source="Orphanet:2138/ntbt"}
xref: MEDGEN:1814438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050090 {source="MONDO:equivalentTo", source="Orphanet:2138", source="Orphanet:2138/e"}
xref: NANDO:2200387 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C127167 {source="MONDO:equivalentTo"}
xref: OMIM:400045 {source="Orphanet:2138", source="MONDO:includedEntryInOMIM", source="Orphanet:2138/ntbt"}
xref: Orphanet:2138 {source="MONDO:equivalentTo"}
xref: SCTID:18978002 {source="MONDO:equivalentTo"}
xref: UMLS:C5679613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814438"}
is_a: MONDO:0002145 {source="MESH:D050090", source="MONDO:Redundant", source="NCIT:C127167", source="Orphanet:2138/inferred"} ! disorder of sexual differentiation
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0016282
name: rhabdomyosarcoma of the cervix uteri
def: "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix." [NCIT:P378]
subset: gard_rare {source="GARD:20494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213802"}
subset: orphanet_rare {source="Orphanet:213802"}
subset: rare
synonym: "CERMS" RELATED ABBREVIATION [ONCOTREE:CERMS]
synonym: "cervical rhabdomyosarcoma" EXACT [NCIT:C128048, Orphanet:213802]
synonym: "rhabdomyosarcoma (disease) of uterine cervix" EXACT []
synonym: "uterine cervix rhabdomyosarcoma" EXACT []
synonym: "uterine cervix rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location]
xref: GARD:20494 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213802", source="Orphanet:213802/btnt"}
xref: ICD10CM:C53.1 {source="Orphanet:213802", source="Orphanet:213802/btnt"}
xref: ICD10CM:C53.8 {source="Orphanet:213802", source="Orphanet:213802/btnt"}
xref: MEDGEN:927341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128048 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CERMS {source="MONDO:equivalentTo"}
xref: Orphanet:213802 {source="MONDO:equivalentTo"}
xref: SCTID:763408003 {source="MONDO:equivalentTo"}
xref: UMLS:C4289809 {source="MEDGEN:927341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005212 {source="MONDO:Redundant", source="NCIT:C128048"} ! rhabdomyosarcoma
is_a: MONDO:0016280 {source="MONDO:Redundant", source="Orphanet:213802"} ! sarcoma of cervix uteri
is_a: MONDO:0018078 {source="MONDO:Redundant", source="NCIT:C128048"} ! soft tissue sarcoma
intersection_of: MONDO:0005212 ! rhabdomyosarcoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0016283
name: leiomyosarcoma of the cervix uteri
def: "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver." [Orphanet:213807]
subset: gard_rare {source="GARD:20495", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213807"}
subset: orphanet_rare {source="Orphanet:213807"}
subset: rare
synonym: "CELI" RELATED ABBREVIATION [ONCOTREE:CELI]
synonym: "cervical leiomyosarcoma" EXACT [NCIT:C128047, Orphanet:213807]
synonym: "leiomyosarcoma of uterine cervix" EXACT [MONDO:design_pattern]
synonym: "uterine cervix leiomyosarcoma" EXACT [MONDO:patterns/location]
xref: GARD:20495 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213807/btnt", source="Orphanet:213807"}
xref: ICD10CM:C53.1 {source="Orphanet:213807/btnt", source="Orphanet:213807"}
xref: ICD10CM:C53.8 {source="Orphanet:213807/btnt", source="Orphanet:213807"}
xref: MEDGEN:927349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128047 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CELI {source="MONDO:equivalentTo"}
xref: Orphanet:213807 {source="MONDO:equivalentTo"}
xref: SCTID:763771009 {source="MONDO:equivalentTo"}
xref: UMLS:C4289817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927349"}
is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C128047/inferred"} ! leiomyosarcoma
is_a: MONDO:0016280 {source="MONDO:Redundant", source="Orphanet:213807"} ! sarcoma of cervix uteri
is_a: MONDO:0018078 {source="MONDO:Redundant", source="NCIT:C128047"} ! soft tissue sarcoma
intersection_of: MONDO:0005058 ! leiomyosarcoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0016284
name: primitive neuroectodermal tumor of the cervix uteri
def: "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement." [Orphanet:213812]
subset: gard_rare {source="GARD:20496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213812"}
subset: orphanet_rare {source="Orphanet:213812"}
subset: rare
synonym: "cervical malignant peripheral neuroectodermal tumor" EXACT [Orphanet:213812]
synonym: "cervical malignant peripheral neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "cervical peripheral neuroectodermal cancer" EXACT [Orphanet:213812]
synonym: "malignant peripheral neuroectodermal tumor of the cervix uteri" EXACT [Orphanet:213812]
synonym: "malignant peripheral neuroectodermal tumour of the cervix uteri" EXACT OMO:0003005 []
synonym: "peripheral neuroectodermal cancer of cervix uteri" EXACT [Orphanet:213812]
xref: GARD:20496 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213812", source="Orphanet:213812/btnt"}
xref: ICD10CM:C53.1 {source="Orphanet:213812", source="Orphanet:213812/btnt"}
xref: ICD10CM:C53.8 {source="Orphanet:213812", source="Orphanet:213812/btnt"}
xref: MEDGEN:1636418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213812 {source="MONDO:equivalentTo"}
xref: UMLS:C4707725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636418"}
is_a: MONDO:0016280 {source="Orphanet:213812"} ! sarcoma of cervix uteri

[Term]
id: MONDO:0016285
name: papillary carcinoma of the cervix uteri
def: "A papillary carcinoma that involves the uterine cervix." [MONDO:patterns/location]
subset: gard_rare {source="GARD:20497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cervical papillary carcinoma" EXACT [Orphanet:213817]
synonym: "uterine cervix papillary carcinoma" EXACT [MONDO:patterns/location]
xref: GARD:20497 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213817/btnt", source="Orphanet:213817"}
xref: ICD10CM:C53.1 {source="Orphanet:213817/btnt", source="Orphanet:213817"}
xref: ICD10CM:C53.8 {source="Orphanet:213817/btnt", source="Orphanet:213817"}
xref: Orphanet:213817 {source="MONDO:equivalentTo"}
is_a: MONDO:0002974 {source="Orphanet:213817"} ! cervical cancer
intersection_of: MONDO:0006509 ! papillary carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare

[Term]
id: MONDO:0016286
name: obsolete adenoid cystic carcinoma of the cervix uteri
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4898" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006133

[Term]
id: MONDO:0016287
name: obsolete adenoid basal carcinoma of the cervix uteri
xref: GARD:20499 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6924" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006132

[Term]
id: MONDO:0016288
name: obsolete glassy cell carcinoma of the cervix uteri
is_obsolete: true
replaced_by: MONDO:0004542

[Term]
id: MONDO:0016289
name: malignant germ cell tumor of cervix uteri
def: "A malignant germ cell tumor that involves the uterine cervix." [MONDO:patterns/location]
subset: gard_rare {source="GARD:20501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:213837"}
subset: orphanet_rare {source="Orphanet:213837"}
subset: rare
synonym: "cervical germ cell cancer" EXACT [Orphanet:213837]
synonym: "cervical malignant germ cell tumor" EXACT [Orphanet:213837]
synonym: "cervical malignant germ cell tumour" EXACT OMO:0003005 []
synonym: "germ cell cancer of cervix uteri" EXACT [Orphanet:213837]
synonym: "germ cell cancer of the cervix uteri" EXACT [Orphanet:213837]
synonym: "malignant germ cell tumor of the cervix uteri" RELATED [Orphanet:213837]
synonym: "malignant germ cell tumour of the cervix uteri" RELATED OMO:0003005 []
synonym: "uterine cervix malignant germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "uterine cervix malignant germ cell tumour" EXACT OMO:0003005 []
xref: GARD:20501 {source="MONDO:GARD"}
xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213837/btnt", source="Orphanet:213837"}
xref: ICD10CM:C53.1 {source="Orphanet:213837/btnt", source="Orphanet:213837"}
xref: ICD10CM:C53.8 {source="Orphanet:213837/btnt", source="Orphanet:213837"}
xref: MEDGEN:1662294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213837 {source="MONDO:equivalentTo"}
xref: UMLS:C4750752 {source="MEDGEN:1662294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002974 {source="Orphanet:213837"} ! cervical cancer
intersection_of: MONDO:0006290 ! malignant germ cell tumor
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016274"} ! rare

[Term]
id: MONDO:0016290
name: Hernández-Aguirre Negrete syndrome
def: "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." [Orphanet:2139]
subset: gard_rare {source="GARD:3491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2139"}
subset: ordo_malformation_syndrome {source="Orphanet:2139"}
subset: orphanet_rare {source="Orphanet:2139"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability" RELATED [MESH:C538112]
synonym: "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" RELATED DEPRECATED [MESH:C538112]
synonym: "intellectual disability-epilepsy-bulbous nose syndrome" EXACT [Orphanet:2139]
xref: GARD:3491 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2139", source="Orphanet:2139/attributed", source="Orphanet:2139/ntbt"}
xref: MEDGEN:419481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538112 {source="MONDO:equivalentTo", source="Orphanet:2139", source="Orphanet:2139/e"}
xref: Orphanet:2139 {source="MONDO:equivalentTo"}
xref: SCTID:721146009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931736 {source="MONDO:equivalentTo", source="MEDGEN:419481", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:0022314/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2139"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020066 {source="MESH:C538112"} ! Ehlers-Danlos syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2139", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020066 {source="MESH:C538112", source="https://orcid.org/0000-0001-5208-3432"} ! Ehlers-Danlos syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3597" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016291
name: craniosynostosis, Herrmann-Opitz type
def: "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987." [Orphanet:2145]
subset: gard_rare {source="GARD:18762", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2145"}
subset: ordo_malformation_syndrome {source="Orphanet:2145"}
subset: orphanet_rare {source="Orphanet:2145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Herrmann Opitz craniosynostosis" RELATED [GARD:0002671]
xref: GARD:18762 {source="MONDO:GARD"}
xref: ICD10CM:Q75.0 {source="Orphanet:2145/attributed", source="Orphanet:2145/ntbt", source="Orphanet:2145"}
xref: MEDGEN:1633959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2145 {source="MONDO:equivalentTo"}
xref: UMLS:C4706536 {source="MEDGEN:1633959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015338 {source="Orphanet:2145"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0016292
name: nodular neuronal heterotopia
subset: gard_rare {source="GARD:16586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2149"}
subset: ordo_morphological_anomaly {source="Orphanet:2149"}
subset: orphanet_rare {source="Orphanet:2149"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic nodular heterotopia" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hereditary nodular heterotopia" RELATED [GARD:0002661]
synonym: "nodular heterotopia" EXACT []
xref: GARD:16586 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:2149", source="Orphanet:2149/attributed", source="Orphanet:2149/ntbt"}
xref: MEDGEN:1842941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2149 {source="MONDO:equivalentTo"}
xref: SCTID:253151003 {source="MONDO:equivalentTo"}
xref: UMLS:C5680679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842941"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2149", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia" xsd:anyURI {source="GARD:0002661"}

[Term]
id: MONDO:0016293
name: congenital stationary night blindness
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:215"}
subset: orphanet_rare {source="Orphanet:215"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital essential nyctalopia" EXACT [DOID:0050534, Orphanet:215]
synonym: "night blindness, congenital stationary" EXACT [OMIMPS:310500]
xref: DOID:0050534 {source="MONDO:equivalentTo"}
xref: ICD10CM:H53.6 {source="Orphanet:215/attributed", source="Orphanet:215/ntbt", source="Orphanet:215"}
xref: ICD10CM:H53.63 {source="DOID:0050534"}
xref: ICD9:368.61 {source="MONDO:equivalentTo", source="DOID:0050534", source="MONDO:i2s"}
xref: MEDGEN:83289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536122 {source="Orphanet:215", source="MONDO:equivalentTo", source="Orphanet:215/e"}
xref: MESH:C537743 {source="DOID:0050534"}
xref: OMIMPS:310500 {source="MONDO:equivalentTo", source="DOID:0050534"}
xref: Orphanet:215 {source="MONDO:equivalentTo", source="DOID:0050534"}
xref: SCTID:193687000 {source="DOID:0050534", source="MONDO:directSiblingOf"}
xref: SCTID:193688005 {source="DOID:0050534"}
xref: SCTID:193689002 {source="DOID:0050534"}
xref: SCTID:232061009 {source="MONDO:equivalentTo"}
xref: SCTID:89208008 {source="DOID:0050534"}
xref: UMLS:C0339535 {source="MEDGEN:83289", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004588 {source="DOID:0050534", source="MESH:C536122"} ! night blindness
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:310500"} ! inherited

[Term]
id: MONDO:0016294
name: Hirschsprung disease-type D brachydactyly syndrome
def: "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." [Orphanet:2150]
subset: gard_rare {source="GARD:2700", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2150"}
subset: ordo_malformation_syndrome {source="Orphanet:2150"}
subset: orphanet_rare {source="Orphanet:2150"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial Hirschsprung's disease and type D brachydactyly" RELATED [GARD:0002700]
synonym: "Hirschsprung disease type d brachydactyly" RELATED [GARD:0002700]
synonym: "Hirschsprung disease with type D brachydactyly" RELATED [OMIM:306980]
synonym: "Hirschsprung disease with type d brachydactyly" EXACT [MONDO:0010609]
xref: GARD:2700 {source="MONDO:GARD"}
xref: ICD10CM:Q43.1 {source="Orphanet:2150/attributed", source="Orphanet:2150/ntbt", source="Orphanet:2150"}
xref: MEDGEN:375339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538319 {source="Orphanet:2150/e", source="MONDO:equivalentTo", source="Orphanet:2150"}
xref: OMIM:306980 {source="Orphanet:2150/e", source="MONDO:equivalentTo", source="Orphanet:2150"}
xref: Orphanet:2150 {source="MONDO:equivalentTo", source="OMIM:306980"}
xref: UMLS:C1844017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375339"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:2150"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021189 {source="Orphanet:2150"} ! intestinal motility disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016295
name: neuronal ceroid lipofuscinosis
def: "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." [Orphanet:216]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:10739", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:216"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ceroid lipofuscinoses" EXACT [OMIMPS:256730]
synonym: "hereditary ceroid lipofuscinosis" EXACT [DOID:14503]
synonym: "NCL" EXACT ABBREVIATION [Orphanet:216]
synonym: "neuronal ceroid lipofuscinosis" EXACT CLINGEN_LABEL []
xref: DOID:14503 {source="MONDO:equivalentTo"}
xref: GARD:10739 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="DOID:14503", source="Orphanet:216", source="MONDO:equivalentTo", source="Orphanet:216/e", source="Orphanet:216/specific"}
xref: MEDGEN:10326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009472 {source="DOID:14503", source="Orphanet:216", source="Orphanet:216/e"}
xref: NANDO:1200150 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200573 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61257 {source="DOID:14503", source="MONDO:equivalentTo"}
xref: OMIMPS:256730 {source="DOID:14503", source="MONDO:equivalentTo"}
xref: Orphanet:216 {source="DOID:14503", source="MONDO:equivalentTo"}
xref: Orphanet:79262 {source="DOID:14503"}
xref: SCTID:42012007 {source="DOID:14503", source="MONDO:equivalentTo"}
xref: UMLS:C0027877 {source="MEDGEN:10326", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="DOID:14503/inferred", source="MONDO:Redundant", source="NCIT:C61257", source="Orphanet:216/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019245 {source="DOID:14503"} ! lysosomal lipid storage disorder
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:216"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256730"} ! inherited

[Term]
id: MONDO:0016296
name: holoprosencephaly
def: "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." [Orphanet:2162]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1247"}
subset: ordo_disorder {source="Orphanet:2162"}
subset: ordo_malformation_syndrome {source="Orphanet:2162"}
subset: orphanet_rare {source="Orphanet:2162"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "holoprosencephaly sequence" EXACT [NCIT:C74988]
synonym: "HPE" EXACT ABBREVIATION [Orphanet:2162]
xref: DOID:4621 {source="MONDO:equivalentTo"}
xref: GARD:6665 {source="MONDO:GARD"}
xref: ICD10CM:Q04.2 {source="Orphanet:2162/e", source="Orphanet:2162/specific", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"}
xref: icd11.foundation:1712699129 {source="MONDO:equivalentTo", source="Orphanet:2162"}
xref: MedDRA:10056304 {source="Orphanet:2162/e", source="Orphanet:2162"}
xref: MEDGEN:38214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016142 {source="Orphanet:2162/e", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"}
xref: NANDO:2200819 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C74988 {source="DOID:4621", source="MONDO:equivalentTo"}
xref: NORD:1247 {source="MONDO:NORD"}
xref: OMIMPS:236100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2162 {source="DOID:4621", source="MONDO:equivalentTo"}
xref: SCTID:30915001 {source="DOID:4621", source="MONDO:equivalentTo"}
xref: SCTID:44519006 {source="DOID:4621"}
xref: UMLS:C0079541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38214"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74988"} ! syndromic disease
is_a: MONDO:0002320 {source="DOID:4621", source="MONDO:indirect"} ! congenital nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:2162"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2162", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:236100"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly" xsd:anyURI {source="GARD:0006665"}

[Term]
id: MONDO:0016297
name: prelingual non-syndromic genetic hearing loss
def: "A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition." [https://orcid.org/0000-0001-5208-3432, Orphanet:216445]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "isolated prelingual genetic deafness" NARROW [Orphanet:216445]
synonym: "prelingual non-syndromic genetic deafness" NARROW [Orphanet:216445]
synonym: "prelingual non-syndromic genetic hearing loss" EXACT CLINGEN_LABEL []
xref: MEDGEN:1647959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:216445 {source="MONDO:equivalentObsolete"}
xref: SCTID:764098007 {source="MONDO:equivalentTo"}
xref: UMLS:C4706679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647959"}
is_a: MONDO:0019497 {source="Orphanet:216445"} ! nonsyndromic genetic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0016298
name: postlingual non-syndromic genetic hearing loss
def: "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed." [Orphanet:216452]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "isolated postlingual genetic deafness" NARROW [Orphanet:216452]
synonym: "postlingual non-syndromic genetic deafness" NARROW []
xref: MEDGEN:1641874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:216452 {source="MONDO:equivalentObsolete"}
xref: SCTID:764097002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641874"}
is_a: MONDO:0019497 {source="Orphanet:216452"} ! nonsyndromic genetic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0016299
name: holoprosencephaly-caudal dysgenesis syndrome
def: "A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2165]
subset: gard_rare {source="GARD:2722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2165"}
subset: ordo_malformation_syndrome {source="Orphanet:2165"}
subset: orphanet_rare {source="Orphanet:2165"}
subset: rare
xref: GARD:2722 {source="MONDO:GARD"}
xref: ICD10CM:Q04.2 {source="Orphanet:2165", source="MONDO:relatedTo", source="Orphanet:2165/ntbt"}
xref: MEDGEN:1653112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2165 {source="MONDO:equivalentTo"}
xref: UMLS:C4749731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1653112"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system malformation

[Term]
id: MONDO:0016300
name: obsolete transposition of the great arteries
is_obsolete: true
replaced_by: MONDO:0000153

[Term]
id: MONDO:0016301
name: congenitally corrected transposition of the great arteries
def: "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." [Orphanet:216694]
subset: gard_rare {source="GARD:1544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:216694"}
subset: ordo_morphological_anomaly {source="Orphanet:216694"}
subset: orphanet_rare {source="Orphanet:216694"}
subset: rare
synonym: "congenitally corrected transposition of the great vessels" EXACT [Orphanet:216694]
synonym: "discordant ventriculoarterial and atrioventricular connections" EXACT [Orphanet:216694]
synonym: "Double discordance" EXACT [Orphanet:216694]
synonym: "L-transposition of the great arteries" EXACT [Orphanet:216694]
synonym: "L-transposition of the great vessels" EXACT [NCIT:C98902]
synonym: "levo-transposition of the great arteries" EXACT [Orphanet:216694]
synonym: "levo-transposition of the great vessels" EXACT [NCIT:C98902]
synonym: "transposition of the great arteries, congenitally corrected" RELATED [GARD:0001544]
synonym: "transposition of the great vessels, congenitally corrected" RELATED [GARD:0001544]
synonym: "ventricular inversion" EXACT [Orphanet:216694]
synonym: "ventriculoarterial and atrioventricular discordance" EXACT [Orphanet:216694]
xref: GARD:1544 {source="MONDO:GARD"}
xref: ICD10CM:Q20.5 {source="Orphanet:216694/e", source="Orphanet:216694"}
xref: icd11.foundation:254915185 {source="MONDO:equivalentTo", source="Orphanet:216694", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:745.12 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10011120 {source="Orphanet:216694/e", source="Orphanet:216694"}
xref: MEDGEN:87489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000080041 {source="MONDO:equivalentTo"}
xref: NANDO:1200699 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200701 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200703 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100079 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200259 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98902 {source="MONDO:equivalentTo"}
xref: Orphanet:216694 {source="MONDO:equivalentTo"}
xref: SCTID:83799000 {source="MONDO:equivalentTo"}
xref: UMLS:C0344616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87489"}
is_a: MONDO:0000153 {source="NCIT:C98902", source="Orphanet:216694"} ! transposition of the great arteries
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries" xsd:anyURI {source="GARD:0001544"}

[Term]
id: MONDO:0016302
name: isolated congenitally uncorrected transposition of the great arteries
subset: gard_rare {source="GARD:20502", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216718"}
subset: rare
synonym: "isolated congenitally uncorrected transposition of the great vessels" EXACT [Orphanet:216718]
xref: GARD:20502 {source="MONDO:GARD"}
xref: ICD10CM:Q20.3 {source="Orphanet:216718", source="Orphanet:216718/attributed", source="Orphanet:216718/ntbt"}
xref: MEDGEN:1842921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:216718 {source="MONDO:equivalentTo"}
xref: UMLS:C5679810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842921"}
is_a: MONDO:0019443 {source="Orphanet:216718"} ! dextro-looped transposition of the great arteries
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016303
name: congenitally uncorrected transposition of the great arteries with cardiac malformation
subset: gard_rare {source="GARD:20503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216729"}
subset: rare
synonym: "congenitally uncorrected transposition of the great vessels with cardiac malformation" EXACT [Orphanet:216729]
synonym: "TGA with cardiac malformation" EXACT [Orphanet:216729]
xref: GARD:20503 {source="MONDO:GARD"}
xref: ICD10CM:Q20.3 {source="Orphanet:216729", source="Orphanet:216729/attributed", source="Orphanet:216729/ntbt"}
xref: MEDGEN:1843053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200701 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:216729 {source="MONDO:equivalentTo"}
xref: UMLS:C5679811 {source="MEDGEN:1843053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019443 {source="Orphanet:216729"} ! dextro-looped transposition of the great arteries
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016304
name: classic pantothenate kinase-associated neurodegeneration
subset: gard_rare {source="GARD:17114", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216866"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NBIA1, classic form" EXACT [Orphanet:216866]
synonym: "neurodegeneration with brain iron accumulation type 1, classic form" EXACT [Orphanet:216866]
synonym: "PKAN, classic form" EXACT [Orphanet:216866]
xref: GARD:17114 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:216866", source="Orphanet:216866/attributed", source="Orphanet:216866/ntbt"}
xref: MEDGEN:1826057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200535 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:216866 {source="MONDO:equivalentTo"}
xref: UMLS:C5679812 {source="MEDGEN:1826057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009319 {source="Orphanet:216866"} ! pantothenate kinase-associated neurodegeneration

[Term]
id: MONDO:0016305
name: atypical pantothenate kinase-associated neurodegeneration
subset: gard_rare {source="GARD:17115", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216873"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NBIA1, atypical form" EXACT [Orphanet:216873]
synonym: "neurodegeneration with brain iron accumulation type 1, atypical form" EXACT [Orphanet:216873]
synonym: "PKAN, atypical form" EXACT [Orphanet:216873]
xref: GARD:17115 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:216873/attributed", source="Orphanet:216873/ntbt", source="Orphanet:216873"}
xref: MEDGEN:1800044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200536 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:216873 {source="MONDO:equivalentTo"}
xref: UMLS:C5568621 {source="MEDGEN:1800044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009319 {source="Orphanet:216873"} ! pantothenate kinase-associated neurodegeneration

[Term]
id: MONDO:0016306
name: Niemann-Pick disease type C, severe perinatal form
subset: gard_rare {source="GARD:20504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216972"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20504 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:216972/attributed", source="Orphanet:216972/ntbt", source="Orphanet:216972"}
xref: MEDGEN:1842349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:216972 {source="MONDO:equivalentTo"}
xref: UMLS:C5680866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842349"}
is_a: MONDO:0018982 {source="Orphanet:216972"} ! Niemann-Pick disease type C
relationship: has_characteristic HP:0000007 {source="Orphanet:216972"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0016307
name: Niemann-Pick disease type C, severe early infantile neurologic onset
subset: gard_rare {source="GARD:20505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216975"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20505 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:216975/attributed", source="Orphanet:216975/ntbt", source="Orphanet:216975"}
xref: MEDGEN:1842400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:216975 {source="MONDO:equivalentTo"}
xref: UMLS:C5680868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842400"}
is_a: MONDO:0018982 {source="Orphanet:216975"} ! Niemann-Pick disease type C
relationship: has_characteristic HP:0000007 {source="Orphanet:216975"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0016308
name: Niemann-Pick disease type C, late infantile neurologic onset
subset: gard_rare {source="GARD:20506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20506 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:216978/attributed", source="Orphanet:216978/ntbt", source="Orphanet:216978"}
xref: MEDGEN:1843353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:216978 {source="MONDO:equivalentTo"}
xref: UMLS:C5680867 {source="MEDGEN:1843353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018982 {source="Orphanet:216978"} ! Niemann-Pick disease type C
relationship: has_characteristic HP:0000007 {source="Orphanet:216978"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0016309
name: Niemann-Pick disease type C, juvenile neurologic onset
subset: gard_rare {source="GARD:20507", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216981"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Niemann-Pick disease type C, classic form" EXACT [Orphanet:216981]
xref: GARD:20507 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:216981/attributed", source="Orphanet:216981/ntbt", source="Orphanet:216981"}
xref: MEDGEN:1842257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:216981 {source="MONDO:equivalentTo"}
xref: UMLS:C5679813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842257"}
is_a: MONDO:0018982 {source="Orphanet:216981"} ! Niemann-Pick disease type C
relationship: has_characteristic HP:0000007 {source="Orphanet:216981"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0016310
name: Niemann-Pick disease type C, adult neurologic onset
subset: gard_rare {source="GARD:20508", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:216986"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20508 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:216986/attributed", source="Orphanet:216986/ntbt", source="Orphanet:216986"}
xref: MEDGEN:1826101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200065 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201209 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:216986 {source="MONDO:equivalentTo"}
xref: UMLS:C5680869 {source="MEDGEN:1826101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018982 {source="Orphanet:216986"} ! Niemann-Pick disease type C
relationship: has_characteristic HP:0000007 {source="Orphanet:216986"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0016311
name: Bockenheimer syndrome
subset: gard_rare {source="GARD:13063", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217008"}
subset: ordo_malformation_syndrome {source="Orphanet:217008"}
subset: orphanet_rare {source="Orphanet:217008"}
subset: rare
synonym: "genuine diffuse phlebectasia" EXACT [Orphanet:217008]
xref: GARD:13063 {source="MONDO:GARD"}
xref: ICD10CM:Q27.4 {source="Orphanet:217008/ntbt", source="Orphanet:217008"}
xref: MEDGEN:1843091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:217008 {source="MONDO:equivalentTo"}
xref: UMLS:C5679814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843091"}
is_a: MONDO:0019293 {source="Orphanet:217008"} ! skin vascular disease

[Term]
id: MONDO:0016312
name: 5-fluorouracil poisoning
def: "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." [Orphanet:217064]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:217064"}
subset: ordo_disorder {source="Orphanet:217064"}
subset: orphanet_rare {source="Orphanet:217064"}
subset: rare
synonym: "5-fluorouracil intoxication" EXACT [Orphanet:217064]
xref: ICD10CM:T45.1 {source="Orphanet:217064", source="Orphanet:217064/ntbt"}
xref: MESH:C531667 {source="MONDO:equivalentTo"}
xref: Orphanet:217064 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning
is_a: MONDO:0800390 {source="https://orcid.org/0000-0001-5208-3432"} ! chemotherapy-induced toxicity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5652" xsd:anyURI

[Term]
id: MONDO:0016313
name: obsolete renal cell carcinoma
is_obsolete: true
replaced_by: MONDO:0005086

[Term]
id: MONDO:0016314
name: obsolete rare carcinoma of pancreas
def: "OBSOLETE. Rare pancreatic carcinoma." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:217074"}
synonym: "rare exocrine pancreatic carcinoma" EXACT [MONDO:patterns/rare]
synonym: "rare pancreatic carcinoma" EXACT [Orphanet:217074]
xref: GARD:20511 {source="MONDO:obsoleteEquivalent"}
xref: MedDRA:10033604 {source="Orphanet:217074", source="Orphanet:217074/e"}
xref: MedDRA:10033609 {source="Orphanet:217074", source="Orphanet:217074/e"}
xref: MESH:D010190 {source="Orphanet:217074", source="Orphanet:217074/e"}
xref: Orphanet:217074 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005192

[Term]
id: MONDO:0016315
name: mucopolysaccharidosis type 2, severe form
def: "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." [Orphanet:217085]
subset: gard_rare {source="GARD:17118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:217085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hunter syndrome type A" EXACT [Orphanet:217085]
synonym: "iduronate 2-sulfatase deficiency type A" EXACT [Orphanet:217085]
synonym: "MPS2A" EXACT ABBREVIATION [Orphanet:217085]
synonym: "MPSIIA" EXACT ABBREVIATION [Orphanet:217085]
synonym: "mucopolysaccharidosis type 2, severe form" EXACT CLINGEN_LABEL []
synonym: "mucopolysaccharidosis type 2A" EXACT [Orphanet:217085]
synonym: "mucopolysaccharidosis type II, severe form" EXACT [Orphanet:217085]
synonym: "mucopolysaccharidosis type IIA" EXACT [Orphanet:217085]
xref: GARD:17118 {source="MONDO:GARD"}
xref: ICD10CM:E76.1 {source="Orphanet:217085", source="Orphanet:217085/attributed", source="Orphanet:217085/ntbt"}
xref: MEDGEN:575246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200098 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201173 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:217085 {source="MONDO:equivalentTo"}
xref: SCTID:73146005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342841 {source="MONDO:equivalentTo", source="MEDGEN:575246", source="MONDO:MEDGEN"}
is_a: MONDO:0010674 {source="Orphanet:217085"} ! mucopolysaccharidosis type 2

[Term]
id: MONDO:0016316
name: mucopolysaccharidosis type 2, attenuated form
def: "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline." [Orphanet:217093]
subset: gard_rare {source="GARD:17119", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:217093"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hunter syndrome type B" EXACT [Orphanet:217093]
synonym: "iduronate 2-sulfatase deficiency type B" EXACT [Orphanet:217093]
synonym: "MPS2B" EXACT ABBREVIATION [Orphanet:217093]
synonym: "MPSIIB" EXACT ABBREVIATION [Orphanet:217093]
synonym: "mucopolysaccharidosis type 2, attenuated form" EXACT CLINGEN_LABEL []
synonym: "mucopolysaccharidosis type 2B" EXACT [Orphanet:217093]
synonym: "mucopolysaccharidosis type II, attenuated form" EXACT [Orphanet:217093]
synonym: "mucopolysaccharidosis type IIB" EXACT [Orphanet:217093]
xref: GARD:17119 {source="MONDO:GARD"}
xref: ICD10CM:E76.1 {source="Orphanet:217093/attributed", source="Orphanet:217093/ntbt", source="Orphanet:217093"}
xref: MEDGEN:1826165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200099 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201171 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201172 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:217093 {source="MONDO:equivalentTo"}
xref: UMLS:C5679815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826165"}
is_a: MONDO:0010674 {source="Orphanet:217093"} ! mucopolysaccharidosis type 2

[Term]
id: MONDO:0016317
name: obsolete limbic encephalitis with NMDA receptor antibodies
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5765" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021081

[Term]
id: MONDO:0016318
name: progressive multifocal leukoencephalopathy
def: "Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS)." [https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy]
subset: gard_rare {source="GARD:7468", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1616", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217260"}
subset: orphanet_rare {source="Orphanet:217260"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukoencephalopathy, progressive multifocal" RELATED [GARD:0007468]
synonym: "PML" EXACT ABBREVIATION [DOID:643, Orphanet:217260]
synonym: "progressive multifocal leukoencephalitis" EXACT [Orphanet:217260]
xref: DOID:643 {source="EFO:0007455", source="MONDO:equivalentTo"}
xref: EFO:0007455 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7468 {source="MONDO:GARD"}
xref: ICD10CM:A81.2 {source="DOID:643", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e"}
xref: icd11.foundation:902939755 {source="MONDO:equivalentTo", source="Orphanet:217260"}
xref: ICD9:046.3 {source="DOID:643", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10036807 {source="Orphanet:217260", source="Orphanet:217260/e"}
xref: MEDGEN:7327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007968 {source="DOID:643", source="EFO:0007455", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e"}
xref: NANDO:1200205 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26815 {source="DOID:643", source="MONDO:equivalentTo"}
xref: NORD:1616 {source="MONDO:NORD"}
xref: Orphanet:217260 {source="MONDO:equivalentTo"}
xref: SCTID:22255007 {source="DOID:643", source="MONDO:equivalentTo"}
xref: UMLS:C0023524 {source="MONDO:equivalentTo", source="MEDGEN:7327", source="MONDO:MEDGEN"}
is_a: MONDO:0020067 {source="MESH:D007968/inferred", source="Orphanet:217260"} ! infectious encephalitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy" xsd:anyURI {source="GARD:0007468"}

[Term]
id: MONDO:0016319
name: congenital insensitivity to pain with hyperhidrosis
subset: gard_rare {source="GARD:20514", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217399"}
subset: orphanet_rare {source="Orphanet:217399"}
subset: rare
synonym: "congenital absence of pain with hyperhidrosis" EXACT [Orphanet:217399]
synonym: "congenital analgesia with hyperhidrosis" EXACT [Orphanet:217399]
synonym: "congenital indifference to pain with hyperhidrosis" EXACT [Orphanet:217399]
xref: GARD:20514 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="Orphanet:217399/attributed", source="Orphanet:217399/ntbt", source="Orphanet:217399"}
xref: MEDGEN:1830087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:217399 {source="MONDO:equivalentTo"}
xref: UMLS:C5679817 {source="MEDGEN:1830087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="Orphanet:217399"} ! hereditary sensory and autonomic neuropathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016320
name: obsolete rare hereditary thrombophilia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:217454"}
xref: GARD:20515 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D68.5 {source="Orphanet:217454/attributed", source="Orphanet:217454/ntbt", source="Orphanet:217454"}
xref: Orphanet:217454 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016321
name: pulmonary interstitial glycogenosis
def: "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD)." [Orphanet:217557]
subset: gard_rare {source="GARD:20516", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217557"}
subset: orphanet_rare {source="Orphanet:217557"}
subset: rare
synonym: "infantile cellular interstitial pneumonitis" EXACT [Orphanet:217557]
synonym: "pig" EXACT [Orphanet:217557]
xref: GARD:20516 {source="MONDO:GARD"}
xref: ICD10CM:J84.842 {source="MONDO:equivalentTo"}
xref: ICD10CM:P22.8 {source="Orphanet:217557", source="Orphanet:217557/ntbt"}
xref: MEDGEN:838075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:217557 {source="MONDO:equivalentTo"}
xref: SCTID:707551007 {source="MONDO:equivalentTo"}
xref: UMLS:C3161106 {source="MONDO:equivalentTo", source="MEDGEN:838075", source="MONDO:MEDGEN"}
is_a: MONDO:0017019 {source="Orphanet:217557"} ! interstitial lung disease specific to infancy

[Term]
id: MONDO:0016322
name: neuroendocrine cell hyperplasia of infancy
def: "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure." [Orphanet:217560]
subset: gard_rare {source="GARD:20517", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217560"}
subset: orphanet_rare {source="Orphanet:217560"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic tachypnoe of infancy" EXACT [https://orcid.org/0000-0003-0113-912X]
synonym: "CTI" EXACT [https://orcid.org/0000-0003-0113-912X]
synonym: "NCHI" EXACT ABBREVIATION [Orphanet:217560]
synonym: "NEHI" EXACT ABBREVIATION [Orphanet:217560]
xref: GARD:20517 {source="MONDO:GARD"}
xref: ICD10CM:J84.841 {source="MONDO:equivalentTo"}
xref: icd11.foundation:1641999159 {source="MONDO:equivalentTo", source="Orphanet:217560"}
xref: MEDGEN:837309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120169 {source="MONDO:equivalentTo"}
xref: Orphanet:217560 {source="MONDO:equivalentTo"}
xref: SCTID:707435002 {source="MONDO:equivalentTo"}
xref: UMLS:C3161105 {source="MEDGEN:837309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005043 {source="NCIT:C120169"} ! hyperplasia
is_a: MONDO:0017019 {source="Orphanet:217560"} ! interstitial lung disease specific to infancy

[Term]
id: MONDO:0016323
name: chronic respiratory distress with surfactant metabolism deficiency
subset: gard_rare {source="GARD:17127", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217566"}
subset: orphanet_rare {source="Orphanet:217566"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17127 {source="MONDO:GARD"}
xref: ICD10CM:J84.8 {source="Orphanet:217566/attributed", source="Orphanet:217566/ntbt", source="Orphanet:217566"}
xref: MEDGEN:1679491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:217566 {source="MONDO:equivalentTo"}
xref: UMLS:C5190853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679491"}
is_a: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis

[Term]
id: MONDO:0016324
name: obsolete hypertrophic cardiomyopathy
is_obsolete: true
replaced_by: MONDO:0005045

[Term]
id: MONDO:0016325
name: obsolete glycogen storage disease with hypertrophic cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease'
subset: ordo_group_of_disorders {source="Orphanet:217572"}
synonym: "glycogenosis with hypertrophic cardiomyopathy" EXACT [Orphanet:217572]
synonym: "GSD with hypertrophic cardiomyopathy" EXACT [Orphanet:217572]
xref: GARD:20519 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:217572/attributed", source="Orphanet:217572/ntbt", source="Orphanet:217572"}
xref: Orphanet:217572 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002412

[Term]
id: MONDO:0016326
name: obsolete lysosomal disease with hypertrophic cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease'
subset: ordo_group_of_disorders {source="Orphanet:217581"}
xref: GARD:20520 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217581 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002561

[Term]
id: MONDO:0016327
name: obsolete mitochondrial disease with hypertrophic cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:217587"}
xref: GARD:20521 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217587 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0004069

[Term]
id: MONDO:0016328
name: obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disorder of fatty acid oxidation and ketogenesis'
subset: ordo_group_of_disorders {source="Orphanet:217591"}
xref: GARD:20522 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217591 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017713

[Term]
id: MONDO:0016329
name: obsolete familial syndrome associated with hypertrophic cardiomyopathy
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
is_obsolete: true
consider: MONDO:0005045

[Term]
id: MONDO:0016330
name: non-familial hypertrophic cardiomyopathy
def: "An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:217598"}
subset: rare
synonym: "acquired hypertrophic cardiomyopathy" EXACT [MONDO:patterns/acquired]
xref: MEDGEN:1843178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:217598 {source="MONDO:equivalentTo"}
xref: UMLS:C5680883 {source="MEDGEN:1843178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="MONDO:Redundant", source="Orphanet:217598"} ! hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0016331
name: infantile systemic hyalinosis
def: "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." [Orphanet:2176]
subset: gard_rare {source="GARD:6807", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2176"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:6807 {source="MONDO:GARD"}
xref: ICD10CM:E78.8 {source="Orphanet:2176", source="Orphanet:2176/attributed", source="Orphanet:2176/ntbt"}
xref: MEDGEN:1803732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:236490 {source="Orphanet:2176", source="MONDO:equivalentObsolete", source="Orphanet:2176/w"}
xref: Orphanet:2176 {source="MONDO:equivalentTo"}
xref: SCTID:238867003 {source="MONDO:equivalentTo"}
xref: UMLS:C5574678 {source="MEDGEN:1803732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009229 {source="Orphanet:2176"} ! hyaline fibromatosis syndrome
is_a: MONDO:0019707 {source="Orphanet:2176", source="Orphanet:2176/inferred"} ! primary osteolysis
relationship: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0016332
name: hypertrophic cardiomyopathy due to intensive athletic training
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:I42.2 {source="Orphanet:217601", source="Orphanet:217601/ntbt"}
xref: Orphanet:217601 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0016330 {source="Orphanet:217601"} ! non-familial hypertrophic cardiomyopathy

[Term]
id: MONDO:0016333
name: familial dilated cardiomyopathy
def: "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." [https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy]
comment: Editor note: unsure if GARD is familial form
subset: disease_grouping
subset: gard_rare {source="GARD:20525", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:217607"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DCM" RELATED ABBREVIATION [GARD:0000221]
synonym: "dilated cardiomyopathy, familial" RELATED [GARD:0002905]
synonym: "hereditary dilated cardiomyopathy" EXACT [MONDO:patterns/hereditary]
synonym: "hypokinetic dilated cardiomyopathy, familial" RELATED [GARD:0002905]
synonym: "idiopathic dilated cardiomyopathy" RELATED [GARD:0000221]
xref: GARD:20525 {source="MONDO:GARD"}
xref: ICD10CM:I42.0 {source="Orphanet:217607", source="Orphanet:217607/attributed", source="Orphanet:217607/ntbt"}
xref: MEDGEN:90951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536231 {source="MONDO:equivalentTo", source="Orphanet:217607", source="Orphanet:217607/e"}
xref: OMIMPS:115200 {source="DOID:12930", source="MONDO:equivalentTo"}
xref: Orphanet:217604 {source="GARD:0000221"}
xref: Orphanet:217607 {source="MONDO:equivalentTo"}
xref: UMLS:C0340427 {source="MEDGEN:90951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005021 {source="MESH:C536231", source="MONDO:Redundant", source="Orphanet:217607"} ! dilated cardiomyopathy
is_a: MONDO:0005267 {source="MONDO:Redundant", source="Orphanet:217607"} ! heart disorder
intersection_of: MONDO:0005021 ! dilated cardiomyopathy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020029"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:115200"} ! inherited

[Term]
id: MONDO:0016334
name: obsolete neuromuscular disease with dilated cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neuromuscular disease'
subset: ordo_group_of_disorders {source="Orphanet:217610"}
xref: GARD:20526 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217610 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019056

[Term]
id: MONDO:0016335
name: obsolete mitochondrial disease with dilated cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:217613"}
xref: GARD:20527 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217613 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0004069

[Term]
id: MONDO:0016336
name: obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disorder of fatty acid oxidation and ketogenesis'
subset: ordo_group_of_disorders {source="Orphanet:217616"}
xref: GARD:20528 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217616 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017713

[Term]
id: MONDO:0016337
name: obsolete syndrome associated with dilated cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:217619"}
xref: GARD:20529 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217619 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0016338
name: non-familial dilated cardiomyopathy
subset: disease_grouping
subset: gard_rare {source="GARD:20530", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:217629"}
subset: rare
xref: GARD:20530 {source="MONDO:GARD"}
xref: icd11.foundation:1782708952 {source="MONDO:equivalentTo", source="Orphanet:217629", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1843057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:217629 {source="MONDO:equivalentTo"}
xref: UMLS:C5681849 {source="MEDGEN:1843057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005021 {source="Orphanet:217629"} ! dilated cardiomyopathy

[Term]
id: MONDO:0016339
name: obsolete restrictive cardiomyopathy
is_obsolete: true
replaced_by: MONDO:0005201

[Term]
id: MONDO:0016340
name: familial restrictive cardiomyopathy
def: "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:20532", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:217635"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary restrictive cardiomyopathy" EXACT [MONDO:patterns/hereditary]
xref: GARD:20532 {source="MONDO:GARD"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:468561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:115210 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:217635 {source="MONDO:equivalentTo"}
xref: SCTID:233878008 {source="MONDO:equivalentTo"}
xref: UMLS:C0340429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:468561"}
is_a: MONDO:0005201 {source="MONDO:Redundant", source="Orphanet:217635"} ! restrictive cardiomyopathy
is_a: MONDO:0005217 {source="MONDO:Redundant"} ! familial cardiomyopathy
is_a: MONDO:0005267 {source="MONDO:Redundant", source="Orphanet:217635"} ! heart disorder
intersection_of: MONDO:0005201 ! restrictive cardiomyopathy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020029"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:115210"} ! inherited

[Term]
id: MONDO:0016341
name: obsolete lysosomal disease with restrictive cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease'
subset: ordo_group_of_disorders {source="Orphanet:217638"}
xref: GARD:20533 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217638 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002561

[Term]
id: MONDO:0016342
name: familial isolated arrhythmogenic right ventricular dysplasia
def: "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." [Orphanet:217656]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17129", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217656"}
subset: orphanet_rare {source="Orphanet:217656"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial isolated arrhythmogenic right ventricular cardiomyopathy" EXACT [Orphanet:217656]
synonym: "familial isolated arrhythmogenic right ventricular dysplasia" EXACT CLINGEN_LABEL []
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy" EXACT [Orphanet:217656]
synonym: "familial isolated arrhythmogenic ventricular dysplasia" EXACT [Orphanet:217656]
synonym: "familial isolated ARVC" EXACT [Orphanet:217656]
synonym: "familial isolated ARVD" EXACT [Orphanet:217656]
xref: GARD:17129 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:217656", source="Orphanet:217656/attributed", source="Orphanet:217656/ntbt"}
xref: MEDGEN:901869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:107970 {source="DOID:0050431", source="MONDO:equivalentTo"}
xref: Orphanet:217656 {source="MONDO:equivalentTo"}
xref: SCTID:715865008 {source="MONDO:equivalentTo"}
xref: UMLS:C4274968 {source="MONDO:equivalentTo", source="MEDGEN:901869", source="MONDO:MEDGEN"}
is_a: MONDO:0016587 {source="Orphanet:217656"} ! arrhythmogenic right ventricular cardiomyopathy
intersection_of: MONDO:0016587 {source="https://github.com/monarch-initiative/mondo/issues/2116"} ! arrhythmogenic right ventricular cardiomyopathy
intersection_of: has_characteristic MONDO:0021128 {source="https://github.com/monarch-initiative/mondo/issues/2116"} ! has an isolated presentation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:107970"} ! inherited

[Term]
id: MONDO:0016343
name: obsolete unclassified cardiomyopathy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:217678"}
xref: GARD:20534 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217678 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2824" xsd:anyURI
is_obsolete: true
consider: MONDO:0004994

[Term]
id: MONDO:0016344
name: hydranencephaly
def: "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." [NCIT:P378]
subset: gard_rare {source="GARD:6681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1258"}
subset: ordo_disorder {source="Orphanet:2177"}
subset: ordo_malformation_syndrome {source="Orphanet:2177"}
subset: orphanet_rare {source="Orphanet:2177"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydranencephaly" EXACT [MONDO:ambiguous]
synonym: "hydranencephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Hydroanencephaly" RELATED [GARD:0006681]
xref: DOID:4626 {source="MONDO:equivalentTo"}
xref: GARD:6681 {source="MONDO:GARD"}
xref: HP:0002324 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q04.3 {source="Orphanet:2177", source="Orphanet:2177/ntbt", source="DOID:4626", source="Orphanet:2177/inclusion"}
xref: icd11.foundation:1963574608 {source="Orphanet:2177", source="MONDO:equivalentTo"}
xref: MEDGEN:6937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006832 {source="Orphanet:2177", source="MONDO:equivalentTo", source="Orphanet:2177/e", source="DOID:4626"}
xref: NCIT:C98949 {source="MONDO:equivalentTo", source="DOID:4626"}
xref: NORD:1258 {source="MONDO:NORD"}
xref: Orphanet:2177 {source="MONDO:equivalentTo"}
xref: SCTID:30023002 {source="MONDO:equivalentTo", source="DOID:4626"}
xref: UMLS:C0020225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6937"}
is_a: MONDO:0000819 {source="DOID:4626"} ! anencephaly
is_a: MONDO:0002320 {source="MONDO:Redundant", source="NCIT:C98949"} ! congenital nervous system disorder
is_a: MONDO:0017103 {source="Orphanet:2177"} ! encephaloclastic disorder
property_value: IAO:0000589 "hydranencephaly (disease)" xsd:string

[Term]
id: MONDO:0016345
name: non-familial restrictive cardiomyopathy
subset: disease_grouping
subset: gard_rare {source="GARD:20535", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:217720"}
subset: rare
xref: GARD:20535 {source="MONDO:GARD"}
xref: icd11.foundation:2097520643 {source="MONDO:equivalentTo", source="Orphanet:217720", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1843079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200294 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:217720 {source="MONDO:equivalentTo"}
xref: UMLS:C5680885 {source="MEDGEN:1843079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005201 {source="Orphanet:217720"} ! restrictive cardiomyopathy

[Term]
id: MONDO:0016346
name: hydrocephalus-obesity-hypogonadism syndrome
def: "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." [Orphanet:2183]
subset: gard_rare {source="GARD:2775", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2183"}
subset: ordo_malformation_syndrome {source="Orphanet:2183"}
subset: orphanet_rare {source="Orphanet:2183"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism" RELATED [GARD:0002775]
synonym: "hydrocephalus obesity hypogonadism" RELATED [GARD:0002775]
synonym: "Sengers-Hamel-Otten syndrome" EXACT [Orphanet:2183]
xref: GARD:2775 {source="MONDO:GARD"}
xref: MEDGEN:929145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2183 {source="MONDO:equivalentTo"}
xref: SCTID:721231007 {source="MONDO:equivalentTo"}
xref: UMLS:C4303476 {source="MEDGEN:929145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare

[Term]
id: MONDO:0016347
name: obsolete rare cardiac rhythm disease
def: "OBSOLETE. A rare form of cardiac rhythm disease." [https://orcid.org/0000-0002-6601-2165]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:218436"}
synonym: "rare cardiac rhythm disease" EXACT [MONDO:patterns/rare]
xref: GARD:20536 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:218436 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007263

[Term]
id: MONDO:0016348
name: obsolete non-genetic cardiac rhythm disease
subset: ordo_group_of_disorders {source="Orphanet:218439"}
xref: GARD:20537 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:218439 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016349
name: congenital hydrocephalus
def: "Hydrocephalus that is present at birth." [NCIT:C98876]
subset: gard_rare {source="GARD:6682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2185"}
subset: ordo_malformation_syndrome {source="Orphanet:2185"}
subset: orphanet_rare {source="Orphanet:2185"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hydrocephalus" EXACT [MONDO:patterns/congenital]
synonym: "HYC3" RELATED ABBREVIATION []
xref: GARD:6682 {source="MONDO:GARD"}
xref: ICD10CM:Q03 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q03.0 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"}
xref: ICD10CM:Q03.1 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"}
xref: ICD10CM:Q03.8 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"}
xref: ICD10CM:Q03.9 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"}
xref: icd11.foundation:1878746673 {source="MONDO:equivalentTo", source="Orphanet:2185"}
xref: MedDRA:10010506 {source="Orphanet:2185/e", source="Orphanet:2185"}
xref: MEDGEN:9336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200822 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98876 {source="MONDO:equivalentTo"}
xref: OMIMPS:236600 {source="MONDO:equivalentTo"}
xref: Orphanet:2185 {source="MONDO:equivalentTo"}
xref: SCTID:47032000 {source="MONDO:equivalentTo"}
xref: UMLS:C0020256 {source="MEDGEN:9336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001150 {source="NCIT:C98876", source="https://orcid.org/0000-0002-6601-2165"} ! hydrocephalus
is_a: MONDO:0002320 {source="NCIT:C98876"} ! congenital nervous system disorder
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2185", source="Orphanet:2185/inferred"} ! disorder of development or morphogenesis
intersection_of: MONDO:0001150 ! hydrocephalus
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:2185", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:236600"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016350
name: hydrocephalus-blue sclerae-nephropathy syndrome
def: "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." [Orphanet:2186]
subset: gard_rare {source="GARD:236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2186"}
subset: ordo_malformation_syndrome {source="Orphanet:2186"}
subset: orphanet_rare {source="Orphanet:2186"}
subset: rare
synonym: "Daentl-Townsend-Siegel syndrome" EXACT [Orphanet:2186]
synonym: "familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome" EXACT [GARD:0000236, MESH:C535768]
synonym: "hydrocephalus blue sclera nephropathy" EXACT [GARD:0000236, MESH:C535768]
xref: GARD:236 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2186/attributed", source="Orphanet:2186/ntbt", source="Orphanet:2186"}
xref: MEDGEN:418960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535768 {source="MONDO:equivalentTo"}
xref: Orphanet:2186 {source="MONDO:equivalentTo"}
xref: UMLS:C2931014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418960"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0016349 ! congenital hydrocephalus
relationship: disease_has_feature MONDO:0001150 {source="MESH:C535768"} ! hydrocephalus
relationship: disease_has_feature MONDO:0001269 {source="MESH:C535768"} ! scleral disorder
relationship: disease_has_feature MONDO:0005334 {source="MESH:C535768"} ! hereditary nephritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4328" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome" xsd:anyURI {source="GARD:0000236"}

[Term]
id: MONDO:0016351
name: anti-HLA hyperimmunization
def: "Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion." [Orphanet:2194]
subset: gard_rare {source="GARD:730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:730 {source="MONDO:GARD"}
xref: MEDGEN:929703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2194 {source="MONDO:equivalentTo"}
xref: UMLS:C4304034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929703"}
is_a: MONDO:0005046 {source="Orphanet:2194"} ! immune system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization" xsd:anyURI {source="GARD:0000730"}

[Term]
id: MONDO:0016352
name: obsolete idiopathic inherited hypercalciuria
subset: ordo_disorder {source="Orphanet:2197"}
synonym: "idiopathic hypercalciuria" RELATED [Orphanet:2197]
xref: GARD:16587 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E83.5 {source="Orphanet:2197/ntbt", source="Orphanet:2197/inclusion", source="Orphanet:2197"}
xref: Orphanet:2197 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016353
name: palmoplantar keratoderma-spastic paralysis syndrome
subset: gard_rare {source="GARD:3095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2201"}
subset: orphanet_rare {source="Orphanet:2201"}
subset: rare
synonym: "keratoderma palmoplantar spastic paralysis" RELATED [GARD:0003095]
synonym: "palmoplantar hyperkeratosis-spastic paralysis syndrome" EXACT [Orphanet:2201]
synonym: "Powell-Venencie-Gordon syndrome" EXACT [Orphanet:2201]
xref: GARD:3095 {source="MONDO:GARD"}
xref: MEDGEN:444152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536153 {source="Orphanet:2201", source="Orphanet:2201/e"}
xref: MESH:C538358 {source="MONDO:equivalentTo"}
xref: Orphanet:2201 {source="MONDO:equivalentTo"}
xref: UMLS:C2931828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444152"}
is_a: MONDO:0007853 ! palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
relationship: has_characteristic HP:0000006 {source="Orphanet:2201"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0016354
name: xeroderma pigmentosum-Cockayne syndrome complex
def: "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)." [Orphanet:220295]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:17130", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:220295"}
subset: orphanet_rare {source="Orphanet:220295"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "XP/CS complex" EXACT [Orphanet:220295]
xref: GARD:17130 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="Orphanet:220295", source="Orphanet:220295/nd", source="Orphanet:220295/attributed", source="MONDO:directSiblingOf"}
xref: ICD10CM:Q87.1 {source="Orphanet:220295", source="Orphanet:220295/nd", source="Orphanet:220295/attributed"}
xref: MEDGEN:930080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C156031 {source="MONDO:equivalentTo"}
xref: Orphanet:220295 {source="MONDO:equivalentTo"}
xref: UMLS:C4304411 {source="MEDGEN:930080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder
is_a: MONDO:0015951 {source="Orphanet:220295"} ! hereditary photodermatosis
relationship: disease_shares_features_of MONDO:0016006 ! Cockayne syndrome
relationship: disease_shares_features_of MONDO:0019600 ! xeroderma pigmentosum
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:220295", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:220295", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:220295", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016355
name: obsolete semilobar holoprosencephaly
def: "OBSOLETE. Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [Orphanet:220386]
subset: ordo_subtype_of_a_disorder {source="Orphanet:220386"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17131 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.2 {source="Orphanet:220386", source="Orphanet:220386/attributed", source="Orphanet:220386/ntbt"}
xref: Orphanet:220386 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016356
name: diffuse cutaneous systemic sclerosis
def: "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)." [Orphanet:220393]
subset: gard_rare {source="GARD:9751", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:220393"}
subset: rare
synonym: "DcSSc" RELATED [GARD:0009751]
synonym: "diffuse cutaneous systemic scleroderma" EXACT [Orphanet:220393]
synonym: "dSSc" EXACT [NCIT:C116791]
synonym: "progressive cutaneous systemic scleroderma" EXACT [Orphanet:220393]
synonym: "progressive cutaneous systemic sclerosis" EXACT [Orphanet:220393]
xref: GARD:9751 {source="MONDO:GARD"}
xref: ICD10CM:M34.0 {source="Orphanet:220393/ntbt", source="Orphanet:220393"}
xref: NANDO:1201010 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116791 {source="MONDO:equivalentTo"}
xref: Orphanet:220393 {source="MONDO:equivalentTo"}
is_a: MONDO:0005100 {source="NCIT:C116791", source="Orphanet:220393"} ! systemic sclerosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis" xsd:anyURI {source="GARD:0009751"}

[Term]
id: MONDO:0016357
name: dysplastic cortical hyperostosis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:646139"}
subset: ordo_malformation_syndrome {source="Orphanet:2204"}
subset: orphanet_rare {source="Orphanet:646139"}
subset: rare
xref: ICD10CM:M89.8 {source="Orphanet:2204", source="Orphanet:2204/attributed", source="Orphanet:2204/ntbt"}
xref: MEDGEN:1683894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:646139 {source="MONDO:equivalentTo"}
xref: UMLS:C5190839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683894"}
is_a: MONDO:0018230 {source="Orphanet:2204"} ! skeletal dysplasia
is_a: MONDO:0019702 {source="PMID:31633310"} ! neonatal osteosclerotic dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:2204"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2204", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis" xsd:anyURI {source="GARD:0002022"}

[Term]
id: MONDO:0016358
name: limited cutaneous systemic sclerosis
def: "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms." [Orphanet:220402]
subset: gard_rare {source="GARD:1053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:220402"}
subset: rare
synonym: "limited cutaneous systemic scleroderma" EXACT [Orphanet:220402]
synonym: "limited scleroderma" EXACT [MONDO:0006832]
synonym: "systemic sclerosis, limited" EXACT [DOID:1577]
xref: DOID:1577 {source="MONDO:equivalentTo", source="EFO:1001017"}
xref: GARD:1053 {source="MONDO:GARD"}
xref: ICD10CM:M34.1 {source="Orphanet:220402", source="Orphanet:220402/ntbt"}
xref: MEDGEN:148187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D045745 {source="DOID:1577", source="MONDO:equivalentTo", source="EFO:1001017"}
xref: NANDO:1201011 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:220402 {source="MONDO:equivalentTo"}
xref: SCTID:128459005 {source="DOID:1577"}
xref: SCTID:298285004 {source="DOID:1577", source="MONDO:equivalentTo", source="MONDO:directSiblingOf"}
xref: SCTID:299276009 {source="DOID:1577", source="MONDO:equivalentTo", source="EFO:1001017", source="MONDO:preferredExternal"}
xref: UMLS:C0748540 {source="MEDGEN:148187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005100 {source="DOID:1577", source="EFO:1001017", source="MESH:D045745", source="Orphanet:220402"} ! systemic sclerosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4633" xsd:anyURI

[Term]
id: MONDO:0016359
name: limited systemic sclerosis
def: "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin." [Orphanet:220407]
subset: gard_rare {source="GARD:9749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:220407"}
subset: rare
synonym: "progressive systemic sclerosis sine scleroderma" RELATED [GARD:0009749]
synonym: "Scleroderma, sine" RELATED [GARD:0009749]
synonym: "SSC without skin involvement" EXACT [NCIT:C116789]
synonym: "systemic sclerosis sine scleroderma" EXACT [Orphanet:220407]
synonym: "systemic sclerosis without skin involvement" EXACT [NCIT:C116789]
xref: GARD:9749 {source="MONDO:GARD"}
xref: ICD10CM:M34.0 {source="Orphanet:220407/ntbt", source="Orphanet:220407"}
xref: icd11.foundation:187455179 {source="MONDO:equivalentTo", source="Orphanet:220407"}
xref: MEDGEN:220934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116789 {source="MONDO:equivalentTo"}
xref: Orphanet:220407 {source="MONDO:equivalentTo"}
xref: SCTID:128461001 {source="MONDO:equivalentTo"}
xref: UMLS:C1290138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220934"}
is_a: MONDO:0005100 {source="NCIT:C116789", source="Orphanet:220407"} ! systemic sclerosis

[Term]
id: MONDO:0016360
name: marcothrombocytopenia with mitral valve insufficiency
def: "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency." [Orphanet:220448]
subset: gard_rare {source="GARD:20538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:220448"}
subset: orphanet_rare {source="Orphanet:220448"}
subset: rare
xref: GARD:20538 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="Orphanet:220448/attributed", source="Orphanet:220448/ntbt", source="Orphanet:220448"}
xref: MEDGEN:1649052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:220448 {source="MONDO:equivalentTo"}
xref: UMLS:C4749648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1649052"}
is_a: MONDO:0018795 {source="Orphanet:220448"} ! syndromic constitutional thrombocytopenia

[Term]
id: MONDO:0016361
name: obsolete isolated hereditary giant platelet disorder
subset: ordo_group_of_disorders {source="Orphanet:220452"}
synonym: "isolated hereditary giant platelet disorder" EXACT CLINGEN_LABEL []
synonym: "isolated hereditary macrothrombocytopenia" EXACT [Orphanet:220452]
synonym: "isolated inherited giant platelet disorder" EXACT [Orphanet:220452]
synonym: "isolated inherited macrothrombocytopenia" EXACT [Orphanet:220452]
xref: GARD:20539 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D69.1 {source="Orphanet:220452", source="Orphanet:220452/attributed", source="Orphanet:220452/ntbt"}
xref: icd11.foundation:2069754587 {source="Orphanet:220452", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:220452 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016362
name: attenuated familial adenomatous polyposis
def: "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features." [Orphanet:220460]
subset: gard_rare {source="GARD:8532", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:220460"}
subset: orphanet_rare {source="Orphanet:220460"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AAPC" EXACT ABBREVIATION [NCIT:C6729]
synonym: "AFAP" EXACT ABBREVIATION [NCIT:C6729, Orphanet:220460]
synonym: "attenuated adenomatous polyposis coli" EXACT [NCIT:C6729]
synonym: "attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [NCIT:C6729]
synonym: "attenuated familial polyposis coli" EXACT [Orphanet:220460]
synonym: "attenuated FAP" EXACT [Orphanet:220460]
synonym: "hereditary flat adenoma syndrome" EXACT [NCIT:C6729]
synonym: "HFAS" EXACT ABBREVIATION [NCIT:C6729]
synonym: "mild form of FAP" RELATED [GARD:0008532]
xref: GARD:8532 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:220460", source="Orphanet:220460/attributed", source="Orphanet:220460/ntbt"}
xref: MEDGEN:436213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538265 {source="Orphanet:220460", source="MONDO:equivalentTo", source="Orphanet:220460/e"}
xref: NCIT:C6729 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:220460 {source="MONDO:equivalentTo"}
xref: SCTID:715866009 {source="MONDO:equivalentTo"}
xref: UMLS:C2674616 {source="MEDGEN:436213", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015356 {source="MESH:C538265/inferred", source="MONDO:Redundant", source="NCIT:C6729", source="Orphanet:220460", source="Orphanet:220460/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0021057 {source="https://orcid.org/0000-0002-6601-2165"} ! classic or attenuated familial adenomatous polyposis

[Term]
id: MONDO:0016363
name: obsolete rare hereditary hemochromatosis
def: "OBSOLETE. Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease." [Orphanet:220489]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:220489"}
synonym: "iron overload disease" BROAD [Orphanet:220489]
synonym: "rare hereditary hemochromatosis" EXACT [MONDO:patterns/rare]
xref: GARD:20540 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E83.1 {source="Orphanet:220489/attributed", source="Orphanet:220489/ntbt"}
xref: ICD9:275.01 {source="EFO:0006513"}
xref: NCIT:C84764 {source="EFO:0006513", source="MONDO:directSiblingOf"}
xref: Orphanet:139498 {source="OMIM:235200"}
xref: Orphanet:220489 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:35400008 {source="EFO:0006513"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006507

[Term]
id: MONDO:0016364
name: Joubert syndrome with ocular defect
def: "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." [Orphanet:220493]
subset: gard_rare {source="GARD:10168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:220493"}
subset: orphanet_rare {source="Orphanet:220493"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JBTS3" RELATED ABBREVIATION [GARD:0010168]
synonym: "Joubert syndrome 3" RELATED [GARD:0010168]
synonym: "Joubert syndrome with ocular anomalies" RELATED [GARD:0010168]
synonym: "Joubert syndrome with retinopathy" EXACT [Orphanet:220493]
synonym: "JS-O" EXACT [Orphanet:220493]
xref: GARD:10168 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:220493", source="MONDO:relatedTo", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"}
xref: ICD10CM:Q04.3 {source="Orphanet:220493", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"}
xref: MEDGEN:909607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:220493 {source="MONDO:equivalentTo"}
xref: SCTID:716998009 {source="MONDO:equivalentTo"}
xref: UMLS:C4274118 {source="MEDGEN:909607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015369 {source="Orphanet:220493"} ! Joubert syndrome and related disorders
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:220493", source="Orphanet:220493/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies" xsd:anyURI {source="GARD:0010168"}

[Term]
id: MONDO:0016365
name: familial primary hyperparathyroidism
def: "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:2837", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:2207"}
subset: rare
synonym: "hereditary primary hyperparathyroidism (disease)" EXACT [MONDO:patterns/hereditary]
xref: GARD:2837 {source="MONDO:GARD"}
xref: ICD10CM:E21.0 {source="Orphanet:2207", source="Orphanet:2207/attributed", source="Orphanet:2207/ntbt"}
xref: MEDGEN:543605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2207 {source="MONDO:equivalentTo"}
xref: UMLS:C0271846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543605"}
is_a: MONDO:0016166 {source="MONDO:Redundant", source="Orphanet:2207"} ! hereditary hyperparathyroidism
is_a: MONDO:0021360 {source="MONDO:Entailed", source="Orphanet:2207"} ! tumor of parathyroid gland
intersection_of: MONDO:0010837 ! primary hyperparathyroidism
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015076"} ! rare

[Term]
id: MONDO:0016366
name: maternal phenylketonuria
def: "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations." [Orphanet:2209]
subset: gard_rare {source="GARD:3413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2209"}
subset: ordo_malformation_syndrome {source="Orphanet:2209"}
subset: orphanet_rare {source="Orphanet:2209"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperphenylalaninemic embryopathy" EXACT [Orphanet:2209]
synonym: "maternal hyperphenylalaninemia" EXACT [Orphanet:2209]
synonym: "maternal PKU" EXACT [Orphanet:2209]
synonym: "phenylketonuric embryopathy" EXACT [Orphanet:2209]
xref: GARD:3413 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:2209", source="Orphanet:2209/attributed", source="Orphanet:2209/ntbt"}
xref: icd11.foundation:1509230254 {source="MONDO:equivalentTo", source="Orphanet:2209", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:88435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017042 {source="MONDO:equivalentTo"}
xref: Orphanet:2209 {source="MONDO:equivalentTo"}
xref: UMLS:C0085547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88435"}
is_a: MONDO:0009861 {source="https://orcid.org/0000-0001-5208-3432"} ! phenylketonuria
relationship: has_characteristic HP:0000007 {source="Orphanet:2209"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0016367
name: dermatomyositis
def: "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness." [Orphanet:221]
subset: gard_rare {source="GARD:6263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1048"}
subset: ordo_disorder {source="Orphanet:221"}
subset: orphanet_rare {source="Orphanet:221"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult dermatomyositis" NARROW [GARD:0006263, Orphanet:221]
synonym: "Amyopathic dermatomyositis" RELATED [DOID:10223, MESH:C538250]
synonym: "dermatomyositis" EXACT [MONDO:0005014]
synonym: "dermatopolymyositis" EXACT [DOID:10223]
synonym: "DM" EXACT ABBREVIATION [Orphanet:221]
synonym: "polymyositis with skin involvement" EXACT [DOID:10223]
xref: DOID:10223 {source="EFO:0000398", source="MONDO:equivalentTo"}
xref: EFO:0000398 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6263 {source="MONDO:GARD"}
xref: ICD10CM:M33 {source="DOID:10223"}
xref: ICD10CM:M33.0 {source="Orphanet:221/ntbt", source="Orphanet:221"}
xref: ICD10CM:M33.1 {source="Orphanet:221/ntbt", source="Orphanet:221"}
xref: ICD10CM:M33.9 {source="DOID:10223"}
xref: ICD10CM:M33.90 {source="DOID:10223"}
xref: ICD9:710.3 {source="EFO:0000398", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10223"}
xref: MedDRA:10012503 {source="Orphanet:221/e", source="Orphanet:221"}
xref: MEDGEN:8331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003882 {source="Orphanet:221/e", source="EFO:0000398", source="MONDO:equivalentTo", source="Orphanet:221", source="DOID:10223"}
xref: NANDO:1200274 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26744 {source="EFO:0000398", source="MONDO:equivalentTo", source="DOID:10223"}
xref: NORD:1048 {source="MONDO:NORD"}
xref: Orphanet:221 {source="MONDO:equivalentTo", source="GARD:0006263"}
xref: SCTID:156456005 {source="DOID:10223"}
xref: SCTID:201445002 {source="DOID:10223"}
xref: SCTID:201448000 {source="DOID:10223"}
xref: SCTID:203795006 {source="DOID:10223"}
xref: SCTID:38826005 {source="DOID:10223"}
xref: SCTID:396230008 {source="EFO:0000398", source="MONDO:equivalentTo", source="DOID:10223"}
xref: UMLS:C0011633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8331"}
is_a: MONDO:0005554 {source="https://orcid.org/0000-0002-0736-9199"} ! rheumatic disorder
is_a: MONDO:0019127 {source="MESH:D003882"} ! polymyositis
is_a: MONDO:0020122 {source="MONDO:Redundant", source="Orphanet:221"} ! acquired idiopathic inflammatory myopathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000014 ! zone of skin
intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue
relationship: disease_has_location UBERON:0001015 {source="EFO:0000784"} ! musculature
relationship: excluded_subClassOf MONDO:0003900 {source="MESH:D003882", source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder
relationship: excluded_subClassOf MONDO:0017368 {source="Orphanet:221", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic disease with skin involvement
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:221", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0016368
name: Rothmund-Thomson syndrome type 1
alt_id: MONDO:0032840
def: "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer." [Orphanet:221008]
subset: gard_rare {source="GARD:17134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:221008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Poikiloderma Atrophicans and Cataract" RELATED [OMIM:618625]
synonym: "poikiloderma of Rothmund-Thomson type 1" EXACT [Orphanet:221008]
synonym: "ROTHMUND-THOMSON SYNDROME, TYPE 1" RELATED [OMIM:618625]
synonym: "RTS1" EXACT ABBREVIATION [Orphanet:221008]
xref: GARD:17134 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:221008", source="Orphanet:221008/attributed", source="Orphanet:221008/ntbt"}
xref: MEDGEN:1684764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C178826 {source="MONDO:equivalentTo"}
xref: OMIM:618625 {source="MONDO:equivalentTo"}
xref: Orphanet:221008 {source="OMIM:618625", source="MONDO:equivalentTo"}
xref: UMLS:C5231433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684764"}
is_a: MONDO:0010002 {source="OMIM:618625", source="Orphanet:221008"} ! Rothmund-Thomson syndrome

[Term]
id: MONDO:0016369
name: Rothmund-Thomson syndrome type 2
def: "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." [Orphanet:221016]
subset: gard_rare {source="GARD:17135", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:221016"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "poikiloderma of Rothmund-Thomson type 2" EXACT [Orphanet:221016]
synonym: "Rothmund-Thomson syndrome, type 2" EXACT [OMIM:268400, OMIM:genemap2]
synonym: "RTS2" EXACT ABBREVIATION [Orphanet:221016]
xref: GARD:17135 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:221016", source="Orphanet:221016/attributed", source="Orphanet:221016/ntbt"}
xref: MEDGEN:1684753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C178827 {source="MONDO:equivalentTo"}
xref: OMIM:268400 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"}
xref: Orphanet:221016 {source="MONDO:equivalentTo"}
xref: UMLS:C5203410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684753"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0010002 {source="Orphanet:221016"} ! Rothmund-Thomson syndrome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9949 {source="MONDO:mim2gene_medgen"} ! RECQL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0016370
name: Marchiafava-Bignami disease
def: "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." [https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease]
subset: gard_rare {source="GARD:6971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221074"}
subset: orphanet_rare {source="Orphanet:221074"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute Marchiafava-Bignami disease" NARROW [GARD:0006971]
synonym: "chronic Marchiafava-Bignami syndrome" NARROW [GARD:0006971]
synonym: "Marchiafava Bignami disease" EXACT [GARD:0006971]
synonym: "MBD" RELATED ABBREVIATION [GARD:0006971]
xref: EFO:1001809 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6971 {source="MONDO:GARD"}
xref: ICD10CM:G37.1 {source="Orphanet:221074/e", source="Orphanet:221074"}
xref: icd11.foundation:1694687314 {source="MONDO:equivalentTo", source="Orphanet:221074", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10026828 {source="Orphanet:221074/e", source="Orphanet:221074"}
xref: MEDGEN:65955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054319 {source="Orphanet:221074/e", source="MONDO:equivalentTo", source="Orphanet:221074"}
xref: Orphanet:221074 {source="MONDO:equivalentTo"}
xref: SCTID:386766007 {source="MONDO:equivalentTo"}
xref: UMLS:C0238265 {source="MEDGEN:65955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="Orphanet:221074"} ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease" xsd:anyURI {source="GARD:0006971"}

[Term]
id: MONDO:0016371
name: combined hyperactive dysfunction syndrome of the cranial nerves
subset: gard_rare {source="GARD:20541", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221078"}
subset: orphanet_rare {source="Orphanet:221078"}
subset: rare
xref: GARD:20541 {source="MONDO:GARD"}
xref: MEDGEN:1677292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:221078 {source="MONDO:equivalentTo"}
xref: UMLS:C5190851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677292"}
is_a: MONDO:0016374 {source="Orphanet:221078"} ! cranial neuralgia

[Term]
id: MONDO:0016372
name: glossopharyngeal neuralgia
def: "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases." [https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia]
subset: gard_rare {source="GARD:6519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221098"}
subset: orphanet_rare {source="Orphanet:221098"}
subset: rare
synonym: "glossopharyngeal nerve neuralgia" EXACT [MONDO:patterns/location]
synonym: "glossopharyngeal neuralgia" EXACT [DOID:14423, ICD9CM:352.1]
synonym: "Glossovasopharyngeal neuralgia" EXACT [Orphanet:221098]
synonym: "neuralgia of glossopharyngeal nerve" EXACT [MONDO:design_pattern]
xref: DOID:14423 {source="MONDO:equivalentTo"}
xref: GARD:6519 {source="MONDO:GARD"}
xref: ICD10CM:G52.1 {source="Orphanet:221098", source="Orphanet:221098/ntbt", source="DOID:14423"}
xref: ICD9:352.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14423"}
xref: MedDRA:10018391 {source="Orphanet:221098", source="Orphanet:221098/e"}
xref: MEDGEN:57595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020435 {source="DOID:14423"}
xref: Orphanet:221098 {source="MONDO:equivalentTo"}
xref: SCTID:43763009 {source="MONDO:equivalentTo", source="DOID:14423"}
xref: UMLS:C0154731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57595"}
is_a: MONDO:0002639 {source="DOID:14423", source="MONDO:Redundant"} ! glossopharyngeal nerve disorder
is_a: MONDO:0016374 {source="MONDO:Redundant", source="Orphanet:221098"} ! cranial neuralgia
intersection_of: MONDO:0021667 ! neuralgia
intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia" xsd:anyURI {source="GARD:0006519"}

[Term]
id: MONDO:0016373
name: isolated facial myokymia
comment: Editor note: todo check MESH
xref: ICD10CM:G51.4 {source="MONDO:equivalentTo", source="Orphanet:221106", source="Orphanet:221106/e"}
xref: MEDGEN:78741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020385
xref: Orphanet:221106 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0270871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78741"}
is_a: MONDO:0002098 {source="ICD10CM:G51.4", source="https://orcid.org/0000-0001-5208-3432"} ! facial nerve disorder
is_a: MONDO:0005395 {source="https://orcid.org/0000-0002-4142-7153"} ! movement disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0016374
name: cranial neuralgia
def: "A neuralgia that involves the cranial neuron projection bundle." [MONDO:patterns/location]
subset: disease_grouping
subset: gard_rare {source="GARD:20542", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:221109"}
subset: rare
synonym: "cranial neuron projection bundle neuralgia" EXACT [MONDO:patterns/location]
synonym: "facial neuralgia" NARROW [Orphanet:221109]
synonym: "neuralgia of cranial neuron projection bundle" EXACT [MONDO:design_pattern]
xref: GARD:20542 {source="MONDO:GARD"}
xref: MEDGEN:507603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:221109 {source="MONDO:equivalentTo"}
xref: SCTID:23096007 {source="MONDO:equivalentTo"}
xref: UMLS:C0010269 {source="MEDGEN:507603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003569 {source="MONDO:Redundant"} ! cranial nerve neuropathy
is_a: MONDO:0015923 {source="Orphanet:221109"} ! acquired peripheral neuropathy
intersection_of: MONDO:0021667 ! neuralgia
intersection_of: disease_has_location UBERON:0034713 ! cranial neuron projection bundle

[Term]
id: MONDO:0016375
name: obsolete acquired peripheral movement disorder
subset: ordo_group_of_disorders {source="Orphanet:221114"}
xref: GARD:20543 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:221114 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016376
name: confetti-like macular atrophy
subset: gard_rare {source="GARD:20544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221142"}
subset: orphanet_rare {source="Orphanet:221142"}
subset: rare
xref: GARD:20544 {source="MONDO:GARD"}
xref: ICD10CM:L90.8 {source="Orphanet:221142", source="Orphanet:221142/ntbt"}
xref: MEDGEN:1803272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:221142 {source="MONDO:equivalentTo"}
xref: UMLS:C5687155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803272"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016377
name: Pitt-Hopkins-like syndrome
def: "Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated." [GARD:0011967]
subset: gard_rare {source="GARD:11967", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PTHSL" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: GARD:11967 {source="MONDO:GARD"}
xref: MEDGEN:1648432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:221150 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4751168 {source="MEDGEN:1648432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:221150"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:221150", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:221150", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome" xsd:anyURI {source="GARD:0011967"}

[Term]
id: MONDO:0016378
name: maternal hyperthermia induced birth defects
def: "Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached." [Orphanet:2216]
subset: gard_rare {source="GARD:2856", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2216"}
subset: ordo_malformation_syndrome {source="Orphanet:2216"}
subset: orphanet_rare {source="Orphanet:2216"}
subset: rare
synonym: "hyperthermia induced defects" RELATED [GARD:0002856]
xref: GARD:2856 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:2216", source="Orphanet:2216/ntbt"}
xref: MEDGEN:1631447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2216 {source="MONDO:equivalentTo", source="GARD:0002856"}
xref: SCTID:765138001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631447"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2856/hyperthermia-induced-defects" xsd:anyURI {source="GARD:0002856"}

[Term]
id: MONDO:0016379
name: erosive pustular dermatosis of the scalp
def: "Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia." [Orphanet:222]
subset: gard_rare {source="GARD:2188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:222"}
subset: orphanet_rare {source="Orphanet:222"}
subset: rare
xref: GARD:2188 {source="MONDO:GARD"}
xref: icd11.foundation:982719772 {source="MONDO:equivalentTo", source="Orphanet:222", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:96057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:222 {source="MONDO:equivalentTo"}
xref: SCTID:238733003 {source="MONDO:equivalentTo"}
xref: UMLS:C0406464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96057"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp" xsd:anyURI {source="GARD:0002188"}

[Term]
id: MONDO:0016380
name: acquired hypertrichosis lanuginosa
def: "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary." [Orphanet:2221]
subset: gard_rare {source="GARD:2864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2221"}
subset: orphanet_rare {source="Orphanet:2221"}
subset: rare
synonym: "hypertrichosis lanuginosa, acquired" RELATED [GARD:0002864]
xref: GARD:2864 {source="MONDO:GARD"}
xref: ICD10CM:L68.1 {source="Orphanet:2221", source="MONDO:equivalentTo", source="Orphanet:2221/e"}
xref: MEDGEN:87468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2221 {source="MONDO:equivalentTo"}
xref: SCTID:25967007 {source="MONDO:equivalentTo"}
xref: UMLS:C0343072 {source="MEDGEN:87468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019280 {source="Orphanet:2221"} ! hypertrichosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2864/hypertrichosis-lanuginosa-acquired" xsd:anyURI {source="GARD:0002864"}

[Term]
id: MONDO:0016381
name: hypertrichosis lanuginosa congenita
def: "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." [Orphanet:2222]
subset: gard_rare {source="GARD:2865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2222"}
subset: orphanet_rare {source="Orphanet:2222"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hypertrichosis lanuginosa" RELATED [GARD:0002865]
synonym: "hypertrichosis lanuginosa congenita" EXACT [OMIM:145700]
synonym: "hypertrichosis lanuginosa universalis" RELATED [GARD:0002865]
synonym: "hypertrichosis universalis" EXACT [OMIM:145700, Orphanet:2222]
xref: GARD:2865 {source="MONDO:GARD"}
xref: ICD10CM:Q84.2 {source="Orphanet:2222/attributed", source="Orphanet:2222/ntbt", source="Orphanet:2222"}
xref: MEDGEN:66727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538389 {source="Orphanet:2222", source="MONDO:equivalentTo", source="Orphanet:2222/e"}
xref: OMIM:145700 {source="Orphanet:2222/btnt", source="Orphanet:2222", source="MONDO:equivalentTo"}
xref: Orphanet:2222 {source="MONDO:equivalentTo", source="OMIM:145700"}
xref: SCTID:201163007 {source="MONDO:equivalentTo"}
xref: UMLS:C0235864 {source="MEDGEN:66727", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019280 {source="MESH:C538389", source="Orphanet:2222"} ! hypertrichosis
is_a: MONDO:0019287 {source="Orphanet:2222"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0020185 {source="Orphanet:2222", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes hypertrichosis

[Term]
id: MONDO:0016382
name: hereditary poikiloderma
subset: disease_grouping
subset: gard_rare {source="GARD:20545", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:222628"}
subset: rare
xref: GARD:20545 {source="MONDO:GARD"}
xref: MEDGEN:1842934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:222628 {source="MONDO:equivalentTo"}
xref: UMLS:C5680891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842934"}
is_a: MONDO:0019268 {source="Orphanet:222628"} ! epidermal disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare

[Term]
id: MONDO:0016383
name: nephrogenic diabetes insipidus
def: "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children." [Orphanet:223]
subset: gard_rare {source="GARD:7178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1497"}
subset: ordo_disorder {source="Orphanet:223"}
subset: orphanet_rare {source="Orphanet:223"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADH resistant diabetes insipidus" RELATED [GARD:0007178]
synonym: "diabetes insipidus nephrogenic" RELATED [GARD:0007178]
synonym: "diabetes insipidus nephrogenic type 1" RELATED [GARD:0007178]
synonym: "diabetes insipidus nephrogenic X-linked" RELATED [GARD:0007178]
synonym: "vasopressin-resistant diabetes insipidus" RELATED [DOID:12387]
xref: DOID:12387 {source="MONDO:equivalentTo"}
xref: GARD:7178 {source="MONDO:GARD"}
xref: ICD10CM:N25.1 {source="Orphanet:223/specific", source="Orphanet:223/e", source="MONDO:equivalentTo", source="DOID:12387", source="Orphanet:223"}
xref: icd11.foundation:1417669099 {source="MONDO:equivalentTo", source="Orphanet:223"}
xref: ICD9:588.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12387"}
xref: MedDRA:10029147 {source="Orphanet:223/e", source="Orphanet:223"}
xref: MEDGEN:57876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018500 {source="Orphanet:223/e", source="MONDO:equivalentTo", source="DOID:12387", source="Orphanet:223"}
xref: NANDO:1200742 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200326 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84919 {source="MONDO:equivalentTo", source="DOID:12387"}
xref: NORD:1497 {source="MONDO:NORD"}
xref: Orphanet:223 {source="MONDO:equivalentTo", source="DOID:12387"}
xref: SCTID:111395007 {source="MONDO:equivalentTo", source="DOID:12387"}
xref: SCTID:123294004 {source="DOID:12387"}
xref: UMLS:C0162283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57876"}
is_a: MONDO:0001343 {source="DOID:12387", source="ICD10CM:N25.1"} ! impaired renal function disease
is_a: MONDO:0004782 {source="MESH:D018500", source="NCIT:C84919"} ! diabetes insipidus
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:223"} ! inherited renal tubular disease

[Term]
id: MONDO:0016384
name: hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
def: "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." [Orphanet:2230]
subset: gard_rare {source="GARD:324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2230"}
subset: orphanet_rare {source="Orphanet:2230"}
subset: rare
synonym: "Salti-Salem syndrome" EXACT [Orphanet:2230]
xref: GARD:324 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:2230/attributed", source="Orphanet:2230/ntbt", source="Orphanet:2230"}
xref: MEDGEN:928748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2230 {source="MONDO:equivalentTo"}
xref: SCTID:721842008 {source="MONDO:equivalentTo"}
xref: UMLS:C4303079 {source="MEDGEN:928748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism

[Term]
id: MONDO:0016385
name: hypogonadism-mitral valve prolapse-intellectual disability syndrome
def: "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature." [Orphanet:2233]
subset: gard_rare {source="GARD:1078", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2233"}
subset: orphanet_rare {source="Orphanet:2233"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cantalamessa Baldini Ambrosi syndrome" RELATED [GARD:0001078]
synonym: "Cantalamessa-Baldini-Ambrosi syndrome" EXACT [Orphanet:2233]
synonym: "primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability" RELATED [GARD:0001078]
synonym: "primary gonadal failure, short stature, mitral valve prolapse, and mental retardation" RELATED DEPRECATED [GARD:0001078]
xref: GARD:1078 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2233/attributed", source="Orphanet:2233/ntbt", source="Orphanet:2233"}
xref: MEDGEN:444117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537981 {source="MONDO:equivalentTo"}
xref: Orphanet:2233 {source="MONDO:equivalentTo"}
xref: SCTID:721841001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444117"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare

[Term]
id: MONDO:0016386
name: hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
def: "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents." [Orphanet:2235]
subset: gard_rare {source="GARD:1234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2235"}
subset: orphanet_rare {source="Orphanet:2235"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chang-Davidson-Carlson syndrome" EXACT [Orphanet:2235]
xref: GARD:1234 {source="MONDO:GARD"}
xref: MEDGEN:419479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538075 {source="MONDO:equivalentTo"}
xref: Orphanet:2235 {source="MONDO:equivalentTo"}
xref: UMLS:C2931722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419479"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016387
name: mitochondrial oxidative phosphorylation disorder
subset: disease_grouping
subset: gard_rare {source="GARD:20546", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:223713"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OXPHOS disease" EXACT [Orphanet:223713]
synonym: "OXPHOS system deficiency" EXACT [doi:10.1136/jmg.2006.042168]
xref: GARD:20546 {source="MONDO:GARD"}
xref: icd11.foundation:1204111545 {source="MONDO:equivalentTo", source="Orphanet:223713", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1825947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:223713 {source="MONDO:equivalentTo"}
xref: UMLS:C5679825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825947"}
is_a: MONDO:0004069 {source="MONDO:Redundant", source="Orphanet:223713"} ! inborn mitochondrial metabolism disorder
intersection_of: MONDO:0004069 ! inborn mitochondrial metabolism disorder
intersection_of: disease_disrupts GO:0006119 ! oxidative phosphorylation

[Term]
id: MONDO:0016388
name: obsolete bone sarcoma
is_obsolete: true
replaced_by: MONDO:0021054

[Term]
id: MONDO:0016389
name: obsolete lymphoma
is_obsolete: true
replaced_by: MONDO:0005062

[Term]
id: MONDO:0016390
name: familial hypoparathyroidism
def: "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects." [Orphanet:2238]
subset: gard_rare {source="GARD:2910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1128"}
subset: ordo_disorder {source="Orphanet:2238"}
subset: orphanet_rare {source="Orphanet:2238"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Familial Isolated Hypoparathyroidism" EXACT [NORD:1128]
synonym: "familial isolated hypoparathyroidism" EXACT [Orphanet:2238]
synonym: "FIH" EXACT ABBREVIATION [OMIM:146200]
synonym: "hypoparathyroidism familial isolated" EXACT [GARD:0002910]
synonym: "hypoparathyroidism, familial" EXACT [OMIMPS:146200]
synonym: "hypoparathyroidism, familial isolated" EXACT [MONDO:Lexical, OMIM:146200]
xref: DOID:0111387 {source="MONDO:equivalentTo"}
xref: GARD:2910 {source="MONDO:GARD"}
xref: ICD10CM:E20.8 {source="Orphanet:2238", source="Orphanet:2238/attributed", source="Orphanet:2238/ntbt"}
xref: MEDGEN:322005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537156 {source="MONDO:equivalentTo", source="Orphanet:2238", source="Orphanet:2238/e"}
xref: NORD:1128 {source="MONDO:NORD"}
xref: OMIMPS:146200 {source="MONDO:equivalentTo"}
xref: Orphanet:2238 {source="MONDO:equivalentTo"}
xref: SCTID:725036000 {source="MONDO:equivalentTo"}
xref: UMLS:C1832648 {source="MEDGEN:322005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016165 {source="Orphanet:2238"} ! hereditary hypoparathyroidism
is_a: MONDO:0019052 ! inborn errors of metabolism
relationship: disease_has_basis_in_disruption_of GO:0035898 ! parathyroid hormone secretion
relationship: excluded_subClassOf MONDO:0020280 {source="Orphanet:2238", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metabolic disease with cataract
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:146200"} ! inherited

[Term]
id: MONDO:0016391
name: neonatal diabetes mellitus
def: "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life." [Orphanet:224]
subset: disease_grouping
subset: gard_rare {source="GARD:18682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:224"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital diabetes mellitus" EXACT [NCIT:C99248]
synonym: "diabetes mellitus syndrome in newborn infant" EXACT [DOID:11717]
synonym: "NDM" EXACT ABBREVIATION [Orphanet:224]
xref: DOID:11717 {source="MONDO:equivalentTo"}
xref: GARD:18682 {source="MONDO:GARD"}
xref: ICD10CM:P70.2 {source="Orphanet:224", source="MONDO:equivalentTo", source="Orphanet:224/e", source="DOID:11717", source="Orphanet:224/specific"}
xref: icd11.foundation:1217915084 {source="Orphanet:224", source="MONDO:equivalentTo"}
xref: ICD9:775.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11717"}
xref: MedDRA:10028933 {source="Orphanet:224", source="Orphanet:224/e"}
xref: MEDGEN:57645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200463 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99248 {source="MONDO:equivalentTo", source="DOID:11717"}
xref: Orphanet:224 {source="MONDO:equivalentTo"}
xref: SCTID:49817004 {source="MONDO:equivalentTo", source="DOID:11717"}
xref: UMLS:C0158981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57645"}
is_a: MONDO:0005015 {source="Orphanet:224"} ! diabetes mellitus
is_a: MONDO:0015967 {source="https://doi.org/10.2337/dci20-0065", source="https://orcid.org/0000-0002-6601-2165"} ! monogenic diabetes
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare

[Term]
id: MONDO:0016392
name: cerebellar hypoplasia-tapetoretinal degeneration syndrome
def: "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." [Orphanet:2246]
subset: gard_rare {source="GARD:1196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2246"}
subset: ordo_malformation_syndrome {source="Orphanet:2246"}
subset: orphanet_rare {source="Orphanet:2246"}
subset: rare
synonym: "cerebellar hypoplasia tapetoretinal degeneration" RELATED [GARD:0001196]
xref: DOID:0070339 {source="MONDO:equivalentTo"}
xref: GARD:1196 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:2246/ntbt", source="Orphanet:2246"}
xref: MEDGEN:902621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2246 {source="MONDO:equivalentTo", source="GARD:0001196"}
xref: UMLS:C4275139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902621"}
is_a: MONDO:0005071 {source="GARD:0001196"} ! nervous system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration" xsd:anyURI {source="GARD:0001196"}

[Term]
id: MONDO:0016393
name: hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
def: "This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." [Orphanet:2250]
subset: gard_rare {source="GARD:16590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2250"}
subset: orphanet_rare {source="Orphanet:2250"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bosma arhinia-microphthalmia syndrome" EXACT [Orphanet:2250]
synonym: "Bosma-Henkin-Christiansen syndrome" EXACT [Orphanet:2250]
xref: GARD:16590 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2250/attributed", source="Orphanet:2250/ntbt", source="Orphanet:2250"}
xref: MEDGEN:1372325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2250 {source="MONDO:equivalentTo"}
xref: UMLS:C4510568 {source="MEDGEN:1372325", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011323 ! arhinia, choanal atresia, and microphthalmia
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism

[Term]
id: MONDO:0016394
name: sporadic infantile bilateral striatal necrosis
def: "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." [Orphanet:225147]
subset: gard_rare {source="GARD:20549", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:225147"}
subset: orphanet_rare {source="Orphanet:225147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABSN" EXACT ABBREVIATION [Orphanet:225147]
synonym: "acute bilateral striatal necrosis" EXACT [Orphanet:225147]
synonym: "sporadic IBSN" EXACT [Orphanet:225147]
synonym: "sporadic infantile striatonigral degeneration" EXACT [Orphanet:225147]
synonym: "sporadic infantile striatonigral necrosis" EXACT [Orphanet:225147]
xref: GARD:20549 {source="MONDO:GARD"}
xref: ICD10CM:G23.2 {source="Orphanet:225147", source="MONDO:relatedTo", source="Orphanet:225147/attributed", source="Orphanet:225147/ntbt"}
xref: MEDGEN:1672494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:225147 {source="MONDO:equivalentTo"}
xref: UMLS:C4087175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672494"}
is_a: MONDO:0015518 {source="Orphanet:225147"} ! infantile bilateral striatal necrosis

[Term]
id: MONDO:0016395
name: foveal hypoplasia-presenile cataract syndrome
subset: gard_rare {source="GARD:406", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2253"}
subset: orphanet_rare {source="Orphanet:2253"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "O'Donnell-Pappas syndrome" EXACT [Orphanet:2253]
xref: GARD:406 {source="MONDO:GARD"}
xref: ICD10CM:H26.0 {source="Orphanet:2253", source="Orphanet:2253/attributed", source="Orphanet:2253/ntbt"}
xref: MEDGEN:419129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537858 {source="MONDO:equivalentTo"}
xref: Orphanet:2253 {source="MONDO:equivalentTo"}
xref: UMLS:C2931644 {source="MEDGEN:419129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="MONDO:indirect"} ! inherited retinal dystrophy

[Term]
id: MONDO:0016396
name: pontocerebellar hypoplasia type 1
def: "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." [Orphanet:2254]
subset: gard_rare {source="GARD:10704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2254"}
subset: ordo_malformation_syndrome {source="Orphanet:2254"}
subset: orphanet_rare {source="Orphanet:2254"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mental retardation, autosomal recessive 32" RELATED DEPRECATED [MONDO:Lexical, OMIM:614339]
synonym: "MRT32" EXACT ABBREVIATION [MONDO:0013701, MONDO:Lexical, OMIM:614339]
synonym: "Norman disease" EXACT [Orphanet:2254]
synonym: "PCH1" EXACT ABBREVIATION [Orphanet:2254]
xref: DOID:0112322 {source="MONDO:equivalentTo"}
xref: GARD:10704 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:2254", source="Orphanet:2254/attributed", source="Orphanet:2254/ntbt"}
xref: MEDGEN:1780208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548069 {source="Orphanet:2254", source="MONDO:equivalentTo", source="Orphanet:2254/e"}
xref: Orphanet:2254 {source="MONDO:equivalentTo"}
xref: SCTID:718610008 {source="MONDO:equivalentTo"}
xref: UMLS:C5442006 {source="MEDGEN:1780208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy
is_a: MONDO:0019502 {source="DC-OMIM:614339"} ! autosomal recessive non-syndromic intellectual disability
is_a: MONDO:0020135 {source="Orphanet:2254"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0016397
name: obsolete lysosomal disease with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease'
subset: ordo_group_of_disorders {source="Orphanet:225681"}
xref: GARD:20550 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225681 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002561

[Term]
id: MONDO:0016398
name: obsolete peroxisomal disease with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: peroxisomal disease'
subset: ordo_group_of_disorders {source="Orphanet:225686"}
xref: GARD:20551 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225686 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019053

[Term]
id: MONDO:0016399
name: obsolete amino acid or protein metabolism disease with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:225689"}
xref: GARD:20552 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225689 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0016400
name: obsolete metal transport or utilization disorder with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:225692"}
xref: GARD:20553 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225692 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0016401
name: obsolete energy metabolism disorder with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn disorder of energy metabolism'
subset: ordo_group_of_disorders {source="Orphanet:225696"}
xref: GARD:20554 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225696 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019243

[Term]
id: MONDO:0016402
name: obsolete mitochondrial disease with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:225700"}
xref: GARD:20555 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225700 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0004069

[Term]
id: MONDO:0016403
name: obsolete mitochondrial disease with peripheral neuropathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:225703"}
xref: GARD:20556 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225703 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0004069

[Term]
id: MONDO:0016404
name: obsolete metabolic neurotransmission anomaly with epilepsy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:225707"}
xref: GARD:20557 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225707 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0016405
name: obsolete sterol metabolism disorder with epilepsy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: MONDO:0019256
subset: ordo_group_of_disorders {source="Orphanet:225710"}
xref: GARD:20558 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225710 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019256

[Term]
id: MONDO:0016406
name: obsolete other metabolic disease with epilepsy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:225713"}
xref: GARD:20559 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:225713 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016407
name: oligomeganephronia
def: "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules." [Orphanet:2260]
subset: gard_rare {source="GARD:4066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2260"}
subset: ordo_morphological_anomaly {source="Orphanet:2260"}
subset: orphanet_rare {source="Orphanet:2260"}
subset: rare
synonym: "Oligomeganephronic renal hypoplasia" EXACT [DOID:0111142, Orphanet:2260]
xref: DOID:0111142 {source="MONDO:equivalentTo"}
xref: GARD:4066 {source="MONDO:GARD"}
xref: ICD10CM:Q60.4 {source="MONDO:relatedTo", source="DOID:0111142", source="Orphanet:2260/ntbt", source="Orphanet:2260"}
xref: icd11.foundation:1283447040 {source="MONDO:equivalentTo", source="Orphanet:2260"}
xref: MEDGEN:609100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200159 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123202 {source="MONDO:equivalentTo"}
xref: Orphanet:2260 {source="MONDO:equivalentTo", source="DOID:0111142"}
xref: SCTID:18417009 {source="MONDO:equivalentTo"}
xref: UMLS:C0431694 {source="MEDGEN:609100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder

[Term]
id: MONDO:0016408
name: permanent congenital hypothyroidism
def: "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth." [Orphanet:226292]
subset: disease_grouping
subset: gard_rare {source="GARD:20560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:226292"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20560 {source="MONDO:GARD"}
xref: ICD10CM:E03.0 {source="Orphanet:226292", source="Orphanet:226292/specific", source="Orphanet:226292/btnt"}
xref: ICD10CM:E03.1 {source="Orphanet:226292", source="Orphanet:226292/specific", source="Orphanet:226292/btnt"}
xref: MEDGEN:1843186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:226292 {source="MONDO:equivalentTo"}
xref: UMLS:C5680893 {source="MEDGEN:1843186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015514 {source="Orphanet:226292"} ! hereditary endocrine growth disease
is_a: MONDO:0018612 {source="Orphanet:226292"} ! congenital hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016409
name: obsolete primary congenital hypothyroidism
def: "OBSOLETE. Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:226295]
subset: ordo_group_of_disorders {source="Orphanet:226295"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20561 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E03.0 {source="Orphanet:226295/attributed", source="Orphanet:226295/ntbt", source="Orphanet:226295"}
xref: ICD10CM:E03.1 {source="Orphanet:226295/attributed", source="Orphanet:226295/ntbt", source="Orphanet:226295"}
xref: Orphanet:226295 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016410
name: central congenital hypothyroidism
def: "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." [Orphanet:226298]
subset: disease_grouping
subset: gard_rare {source="GARD:12280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:226298"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central hypothyroidism" EXACT [NCIT:C113144]
synonym: "hypothalamic-pituitary hypothyroidism" EXACT [NCIT:C113144]
synonym: "secondary hypothyroidism" EXACT [Orphanet:226298]
synonym: "thyroid stimulating hormone deficiency" EXACT [NCIT:C113144]
synonym: "thyrotropin deficiency" EXACT [NCIT:C113144]
synonym: "TSH deficiency" EXACT [NCIT:C113144]
xref: GARD:12280 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:226298/attributed", source="Orphanet:226298/ntbt", source="Orphanet:226298"}
xref: icd11.foundation:848364569 {source="MONDO:equivalentTo", source="Orphanet:226298", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:927869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200390 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200332 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200340 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C113144 {source="MONDO:equivalentTo"}
xref: Orphanet:226298 {source="MONDO:equivalentTo"}
xref: UMLS:C4302200 {source="MEDGEN:927869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016408 {source="Orphanet:226298"} ! permanent congenital hypothyroidism
is_a: MONDO:0018612 {source="MONDO:Redundant", source="NCIT:C113144", source="Orphanet:226298/inferred"} ! congenital hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism" xsd:anyURI {source="GARD:0012280"}

[Term]
id: MONDO:0016411
name: hypothyroidism due to deficient transcription factors involved in pituitary development or function
def: "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." [Orphanet:226307]
subset: gard_rare {source="GARD:20562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:226307"}
subset: orphanet_rare {source="Orphanet:226307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20562 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:226307", source="Orphanet:226307/attributed", source="Orphanet:226307/ntbt"}
xref: MEDGEN:900830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:226307 {source="MONDO:equivalentTo"}
xref: UMLS:C4273672 {source="MEDGEN:900830", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016410 {source="Orphanet:226307"} ! central congenital hypothyroidism

[Term]
id: MONDO:0016412
name: peripheral hypothyroidism
def: "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." [Orphanet:226310]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:1843430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:226310 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5704669 {source="MEDGEN:1843430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016408 {source="Orphanet:226310"} ! permanent congenital hypothyroidism

[Term]
id: MONDO:0016413
name: congenital hypothyroidism due to maternal intake of antithyroid drugs
subset: gard_rare {source="GARD:20563", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:226313"}
subset: orphanet_rare {source="Orphanet:226313"}
subset: rare
xref: GARD:20563 {source="MONDO:GARD"}
xref: ICD10CM:P72.2 {source="Orphanet:226313", source="Orphanet:226313/ntbt"}
xref: MEDGEN:1673658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:226313 {source="MONDO:equivalentTo"}
xref: UMLS:C5190849 {source="MEDGEN:1673658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016555 {source="Orphanet:226313"} ! transient congenital hypothyroidism due to maternal factor
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016414
name: hypotrichosis-intellectual disability, Lopes type
def: "A syndrome characterized by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive." [Orphanet:2266]
subset: gard_rare {source="GARD:18763", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2266"}
subset: orphanet_rare {source="Orphanet:2266"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lopes-Marques de Faria syndrome" EXACT [Orphanet:2266]
xref: GARD:18763 {source="MONDO:GARD"}
xref: MEDGEN:1371854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2266 {source="MONDO:equivalentTo"}
xref: UMLS:C4509839 {source="MEDGEN:1371854", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2266", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016415
name: obsolete immunodeficiency-centromeric instability-facial anomalies syndrome
is_obsolete: true
replaced_by: MONDO:0000133

[Term]
id: MONDO:0016416
name: diphallia
subset: gard_rare {source="GARD:1872", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:227"}
subset: ordo_morphological_anomaly {source="Orphanet:227"}
subset: orphanet_rare {source="Orphanet:227"}
subset: rare
synonym: "Diphallus" RELATED [GARD:0001872]
xref: GARD:1872 {source="MONDO:GARD"}
xref: ICD10CM:Q55.6 {source="Orphanet:227", source="Orphanet:227/ntbt"}
xref: icd11.foundation:1465839134 {source="Orphanet:227", source="MONDO:equivalentTo"}
xref: ICD9:752.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:450542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:227 {source="MONDO:equivalentTo"}
xref: SCTID:253851000 {source="MONDO:equivalentTo"}
xref: UMLS:C0345322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450542"}
is_a: MONDO:0003150 {source="https://orcid.org/0000-0002-5002-8648"} ! male reproductive system disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1872/diphallia" xsd:anyURI {source="GARD:0001872"}

[Term]
id: MONDO:0016417
name: congenital ichthyosis-microcephalus-tetraplegia syndrome
subset: gard_rare {source="GARD:1489", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2271"}
subset: orphanet_rare {source="Orphanet:2271"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ichthyosis-microcephalus-quadriplegia syndrome" EXACT [Orphanet:2271]
xref: GARD:1489 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2271/attributed", source="Orphanet:2271/ntbt", source="Orphanet:2271"}
xref: MEDGEN:1809863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2271 {source="MONDO:equivalentTo"}
xref: UMLS:C5679626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809863"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016418
name: multiple system atrophy, cerebellar type
def: "Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria)." [Orphanet:227510]
subset: gard_rare {source="GARD:20565", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:227510"}
subset: rare
synonym: "MSA, cerebellar type" EXACT [Orphanet:227510]
synonym: "MSA-c" EXACT [Orphanet:227510]
synonym: "sporadic olivopontocerebellar atrophy type 1" EXACT [Orphanet:227510]
synonym: "sporadic OPCA type 1" EXACT [Orphanet:227510]
xref: GARD:20565 {source="MONDO:GARD"}
xref: ICD10CM:G90.3 {source="Orphanet:227510/ntbt", source="Orphanet:227510"}
xref: icd11.foundation:1585600114 {source="MONDO:equivalentTo", source="Orphanet:227510"}
xref: MEDGEN:1843304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200035 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:227510 {source="MONDO:equivalentTo"}
xref: UMLS:C5554234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843304"}
is_a: MONDO:0007803 {source="Orphanet:227510"} ! multiple system atrophy
relationship: excluded_subClassOf MONDO:0016592 {source="Orphanet:227510", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-hereditary degenerative ataxia

[Term]
id: MONDO:0016419
name: hereditary breast carcinoma
def: "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." [NCIT:P378]
comment: Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:227535"}
subset: orphanet_rare {source="Orphanet:227535"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast cancer susceptibility, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2]
synonym: "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2]
synonym: "breast cancer, familial" RELATED [OMIM:114480]
synonym: "breast cancer, familial Male" RELATED [OMIM:114480]
synonym: "breast cancer, invasive ductal, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2]
synonym: "breast cancer, lobular, somatic" EXACT [OMIM:114480, OMIM:genemap2]
synonym: "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2]
synonym: "breast cancer, protection against, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2]
synonym: "breast cancer, somatic" EXACT [OMIM:114480, OMIM:genemap2]
synonym: "breast cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2]
synonym: "familial breast cancer" EXACT [Orphanet:227535]
synonym: "familial breast carcinoma" EXACT [NCIT:C4503, Orphanet:227535]
synonym: "familial cancer of breast" EXACT [NCIT:C4503]
synonym: "familial cancer of the breast" EXACT [NCIT:C4503]
synonym: "hereditary breast cancer" EXACT [NCIT:C4503]
synonym: "hereditary breast carcinoma" EXACT CLINGEN_LABEL [MONDO:patterns/hereditary, NCIT:C4503, Orphanet:227535]
xref: GARD:17142 {source="MONDO:GARD"}
xref: ICD10CM:C50.0 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"}
xref: ICD10CM:C50.1 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"}
xref: ICD10CM:C50.2 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="MONDO:relatedTo", source="Orphanet:227535"}
xref: ICD10CM:C50.3 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="MONDO:relatedTo", source="Orphanet:227535"}
xref: ICD10CM:C50.4 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"}
xref: ICD10CM:C50.5 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"}
xref: ICD10CM:C50.6 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="MONDO:relatedTo", source="Orphanet:227535"}
xref: ICD10CM:C50.8 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"}
xref: MEDGEN:87542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562840 {source="MONDO:equivalentTo"}
xref: NCIT:C4503 {source="MONDO:equivalentTo"}
xref: OMIM:114480 {source="Orphanet:227535/ntbt", source="Orphanet:227535", source="MONDO:equivalentTo"}
xref: Orphanet:227535 {source="MONDO:equivalentTo"}
xref: SCTID:254843006 {source="MONDO:equivalentTo"}
xref: UMLS:C0346153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87542"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:227535/inferred"} ! hereditary disease
intersection_of: MONDO:0004989 ! breast carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: disease_has_feature MONDO:0004989 {source="NCIT:C4503", source="https://orcid.org/0000-0002-6601-2165"} ! breast carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0016420
name: familial flecked retinopathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "hereditary flecked retinopathy" EXACT [Orphanet:227786]
xref: ICD10CM:H35.5 {source="Orphanet:227786", source="MONDO:relatedTo", source="Orphanet:227786/attributed", source="Orphanet:227786/ntbt"}
xref: Orphanet:227786 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0020242 {source="Orphanet:227786"} ! hereditary macular dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016421
name: toxic oil syndrome
def: "Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates." [Orphanet:227972]
subset: gard_rare {source="GARD:20566", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:227972"}
subset: orphanet_rare {source="Orphanet:227972"}
subset: rare
xref: GARD:20566 {source="MONDO:GARD"}
xref: MedDRA:10051222 {source="Orphanet:227972/e", source="Orphanet:227972"}
xref: Orphanet:227972 {source="MONDO:equivalentTo"}
xref: SCTID:239910001 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:227972"} ! poisoning
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0016422
name: autoimmune polyendocrinopathy type 3
def: "A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease." [https://orcid.org/0000-0001-5208-3432, Orphanet:227982]
subset: gard_rare {source="GARD:10980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:227982"}
subset: orphanet_rare {source="Orphanet:227982"}
subset: rare
synonym: "APS type 3" EXACT [Orphanet:227982]
synonym: "APS3" EXACT ABBREVIATION [Orphanet:227982]
synonym: "autoimmune polyendocrine syndrome type 3" EXACT [Orphanet:227982]
synonym: "autoimmune polyglandular syndrome type 3" EXACT [Orphanet:227982]
synonym: "PAS3" RELATED ABBREVIATION [GARD:0010980]
synonym: "polyglandular autoimmune syndrome type 3" RELATED [GARD:0010980]
xref: GARD:10980 {source="MONDO:GARD"}
xref: ICD10CM:E31.0 {source="Orphanet:227982/ntbt", source="Orphanet:227982"}
xref: ICD9:258.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:453060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:227982 {source="MONDO:equivalentTo"}
xref: SCTID:449731009 {source="MONDO:equivalentTo"}
xref: UMLS:C1535942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:453060"}
is_a: MONDO:0017278 {source="Orphanet:227982"} ! autoimmune polyendocrinopathy
relationship: excluded_subClassOf MONDO:0005147 {source="Orphanet:227982", source="https://orcid.org/0000-0001-5208-3432"} ! type 1 diabetes mellitus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015886"} ! rare

[Term]
id: MONDO:0016423
name: autoimmune polyendocrinopathy type 4
subset: gard_rare {source="GARD:20567", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:227990"}
subset: orphanet_rare {source="Orphanet:227990"}
subset: rare
synonym: "APS type 4" EXACT [Orphanet:227990]
synonym: "APS4" EXACT ABBREVIATION [Orphanet:227990]
synonym: "autoimmune polyendocrine syndrome type 4" EXACT [Orphanet:227990]
synonym: "autoimmune polyglandular syndrome type 4" EXACT [Orphanet:227990]
xref: GARD:20567 {source="MONDO:GARD"}
xref: ICD10CM:E31.0 {source="Orphanet:227990", source="Orphanet:227990/ntbt"}
xref: ICD9:258.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:757804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:227990 {source="MONDO:equivalentTo"}
xref: SCTID:449730005 {source="MONDO:equivalentTo"}
xref: UMLS:C3266026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:757804"}
is_a: MONDO:0017278 {source="Orphanet:227990"} ! autoimmune polyendocrinopathy

[Term]
id: MONDO:0016424
name: progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
def: "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy." [Orphanet:228012]
comment: Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this
subset: gard_rare {source="GARD:17145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228012"}
subset: orphanet_rare {source="Orphanet:228012"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012]
synonym: "progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012]
synonym: "progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome" EXACT [Orphanet:228012]
xref: GARD:17145 {source="MONDO:GARD"}
xref: MEDGEN:930500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228012 {source="MONDO:equivalentTo"}
xref: UMLS:C4304831 {source="MEDGEN:930500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="https://orcid.org/0000-0001-5208-3432"} ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder

[Term]
id: MONDO:0016425
name: Hughes-Stovin syndrome
def: "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." [Orphanet:228116]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530)
subset: gard_rare {source="GARD:20569", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228116"}
subset: orphanet_rare {source="Orphanet:228116"}
subset: rare
xref: GARD:20569 {source="MONDO:GARD"}
xref: ICD10CM:I28.8 {source="Orphanet:228116", source="Orphanet:228116/ntbt"}
xref: MEDGEN:929147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228116 {source="MONDO:equivalentTo"}
xref: SCTID:721226005 {source="MONDO:equivalentTo"}
xref: UMLS:C4303478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929147"}
is_a: MONDO:0002254 {source="PMID:35782036", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0009-0001-6494-4831"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0016426
name: fusariosis
def: "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections." [Orphanet:228119]
subset: gard_rare {source="GARD:20570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228119"}
subset: orphanet_rare {source="Orphanet:228119"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fusarium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fusarium disease or disorder" EXACT []
synonym: "Fusarium infection" EXACT [Orphanet:228119]
synonym: "Fusarium infectious disease" EXACT []
xref: DOID:0050289 {source="MONDO:equivalentTo"}
xref: EFO:1001795 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20570 {source="MONDO:GARD"}
xref: MedDRA:10051919 {source="Orphanet:228119", source="Orphanet:228119/e"}
xref: MEDGEN:452375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060585 {source="MONDO:equivalentTo"}
xref: Orphanet:228119 {source="MONDO:equivalentTo"}
xref: SCTID:64250002 {source="MONDO:equivalentTo"}
xref: UMLS:C0276758 {source="MEDGEN:452375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="Orphanet:228119"} ! fungal infectious disease
is_a: MONDO:0002312 {source="DOID:0050289"} ! opportunistic mycosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5506 ! Fusarium
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare

[Term]
id: MONDO:0016427
name: obsolete coccidioidomycosis
is_obsolete: true
replaced_by: MONDO:0005706

[Term]
id: MONDO:0016428
name: obsolete multiple sclerosis variant
subset: ordo_group_of_disorders {source="Orphanet:228145"}
xref: GARD:20571 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:228145 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016429
name: Marburg acute multiple sclerosis
def: "Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients." [Orphanet:228157]
subset: gard_rare {source="GARD:20572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228157"}
subset: orphanet_rare {source="Orphanet:228157"}
subset: rare
synonym: "acute multiple sclerosis, Marburg type" EXACT [Orphanet:228157]
synonym: "acute multiple sclerosis, Marburg variant" EXACT [Orphanet:228157]
xref: GARD:20572 {source="MONDO:GARD"}
xref: MEDGEN:1641985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228157 {source="MONDO:equivalentTo"}
xref: SCTID:766246000 {source="MONDO:equivalentTo"}
xref: UMLS:C4707723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641985"}
is_a: MONDO:0005301 {source="https://orcid.org/0000-0002-4142-7153"} ! multiple sclerosis
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0016430
name: Balo concentric sclerosis
def: "Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity." [GARD:0005885]
subset: gard_rare {source="GARD:5885", source="MONDO:GARD"}
subset: nord_rare {source="NORD:835", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228165"}
subset: orphanet_rare {source="Orphanet:228165"}
subset: rare
synonym: "Balo concentric sclerosis" EXACT [MONDO:0000713]
synonym: "Balo Disease" EXACT [NORD:835]
synonym: "Balo disease" RELATED [GARD:0005885]
synonym: "Balo's concentric sclerosis" EXACT [DOID:0060215, GARD:0005885]
synonym: "Balo's disease" RELATED [GARD:0005885]
synonym: "Baló concentric sclerosis" RELATED [GARD:0005885]
synonym: "concentric demyelination" EXACT [GARD:0005885, Orphanet:228165]
synonym: "diffuse cerebral sclerosis of Schilder" RELATED [GARD:0005885]
synonym: "encephalitis periaxialis concentrica" RELATED [GARD:0005885]
synonym: "Marburg variant" RELATED [GARD:0005885]
synonym: "Tumefactive multiple sclerosis" RELATED [GARD:0005885]
xref: DOID:0060215 {source="MONDO:equivalentTo"}
xref: GARD:5885 {source="MONDO:GARD"}
xref: ICD10CM:G31.81 {source="DOID:0060215"}
xref: ICD10CM:G37.0 {source="DOID:0060215"}
xref: ICD10CM:G37.5 {source="Orphanet:228165/e", source="Orphanet:228165"}
xref: ICD9:341.1 {source="DOID:0060215", source="MONDO:directSiblingOf"}
xref: MedDRA:10010252 {source="Orphanet:228165/e", source="Orphanet:228165"}
xref: MEDGEN:498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002549 {source="DOID:0060215"}
xref: NANDO:1200028 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35257 {source="DOID:0060215", source="MONDO:directSiblingOf"}
xref: NCIT:C84670 {source="DOID:0060215"}
xref: NORD:835 {source="MONDO:NORD"}
xref: Orphanet:228165 {source="GARD:0005885", source="MONDO:equivalentTo"}
xref: SCTID:155059003 {source="DOID:0060215"}
xref: SCTID:192932009 {source="DOID:0060215"}
xref: SCTID:192938008 {source="DOID:0060215"}
xref: SCTID:20415001 {source="DOID:0060215", source="MONDO:directSiblingOf"}
xref: SCTID:230380005 {source="DOID:0060215", source="MONDO:equivalentTo"}
xref: SCTID:267702006 {source="DOID:0060215"}
xref: SCTID:44875002 {source="DOID:0060215"}
xref: SCTID:49692006 {source="DOID:0060215", source="MONDO:directSiblingOf"}
xref: UMLS:C0004712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:498"}
is_a: MONDO:0002562 {source="DOID:0060215"} ! demyelinating disease
relationship: disease_shares_features_of MONDO:0005301 {source="https://www.nationalmssociety.org/What-is-MS/Related-Conditions/Balo%E2%80%99s-Disease"} ! multiple sclerosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis" xsd:anyURI {source="GARD:0005885"}

[Term]
id: MONDO:0016431
name: autosomal dominant Charcot-Marie-Tooth disease type 2M
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." [Orphanet:228179]
subset: gard_rare {source="GARD:17147", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228179"}
subset: orphanet_rare {source="Orphanet:228179"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMT2M" EXACT ABBREVIATION [Orphanet:228179]
xref: GARD:17147 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:228179/attributed", source="Orphanet:228179/ntbt", source="Orphanet:228179"}
xref: MEDGEN:930341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228179 {source="MONDO:equivalentTo"}
xref: SCTID:719514002 {source="MONDO:equivalentTo"}
xref: UMLS:C4304672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930341"}
is_a: MONDO:0011674 ! Charcot-Marie-Tooth disease dominant intermediate B
is_a: MONDO:0018993 {source="Orphanet:228179", source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease type 2

[Term]
id: MONDO:0016432
name: heart-hand syndrome
def: "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." [Orphanet:228184]
subset: disease_grouping
subset: gard_rare {source="GARD:20573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:228184"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atriodigital dysplasia" EXACT [Orphanet:228184]
xref: GARD:20573 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:228184", source="Orphanet:228184/attributed", source="Orphanet:228184/ntbt"}
xref: Orphanet:228184 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:17707532", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016433
name: dysmorphism-short stature-deafness-disorder of sex development syndrome
def: "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." [Orphanet:2282]
subset: gard_rare {source="GARD:18764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2282"}
subset: ordo_malformation_syndrome {source="Orphanet:2282"}
subset: orphanet_rare {source="Orphanet:2282"}
subset: rare
synonym: "Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome" EXACT [Orphanet:2282]
xref: GARD:18764 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2282/attributed", source="Orphanet:2282/ntbt", source="Orphanet:2282"}
xref: MEDGEN:1383129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2282 {source="MONDO:equivalentTo"}
xref: UMLS:C4518561 {source="MEDGEN:1383129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0015159 {source="Orphanet:2282"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020040 ! 46,XY disorder of sex development
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2282", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016434
name: obsolete acquired dermis elastic tissue disorder
def: "OBSOLETE. An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:228218"}
synonym: "acquired dermis elastic tissue disorder" EXACT [MONDO:patterns/acquired]
xref: GARD:20575 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:228218 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016435
name: obsolete acquired dermis elastic tissue disorder with decreased elastic tissue
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired dermis elastic tissue disorder'
subset: ordo_group_of_disorders {source="Orphanet:228221"}
xref: GARD:20576 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:228221 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016434

[Term]
id: MONDO:0016436
name: obsolete acquired dermis elastic tissue disorder with increased elastic tissue
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired dermis elastic tissue disorder'
subset: ordo_group_of_disorders {source="Orphanet:228224"}
xref: GARD:20577 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:228224 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016434

[Term]
id: MONDO:0016437
name: late-onset focal dermal elastosis
def: "Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits." [Orphanet:228227]
subset: gard_rare {source="GARD:20578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228227"}
subset: orphanet_rare {source="Orphanet:228227"}
subset: rare
synonym: "pseudoxanthoma-like late-onset focal dermal elastosis" EXACT [Orphanet:228227]
synonym: "PXE-like late-onset focal dermal elastosis" EXACT [Orphanet:228227]
xref: GARD:20578 {source="MONDO:GARD"}
xref: MEDGEN:1658281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228227 {source="MONDO:equivalentTo"}
xref: UMLS:C4751167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1658281"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016438
name: linear focal dermal elastosis
def: "Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis." [Orphanet:228236]
subset: gard_rare {source="GARD:20579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228236"}
subset: orphanet_rare {source="Orphanet:228236"}
subset: rare
synonym: "Elastotic striae" EXACT [Orphanet:228236]
synonym: "linear focal elastosis" RELATED [Orphanet:228236]
xref: GARD:20579 {source="MONDO:GARD"}
xref: MEDGEN:1666729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228236 {source="MONDO:equivalentTo"}
xref: UMLS:C4751166 {source="MEDGEN:1666729", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016439
name: elastoderma
def: "Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery." [https://rarediseases.info.nih.gov/diseases/12716/elastoderma]
subset: gard_rare {source="GARD:12716", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228240"}
subset: orphanet_rare {source="Orphanet:228240"}
subset: rare
xref: GARD:12716 {source="MONDO:GARD"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:590504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228240 {source="MONDO:equivalentTo"}
xref: SCTID:238832003 {source="MONDO:equivalentTo"}
xref: UMLS:C0406555 {source="MEDGEN:590504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12716/elastoderma" xsd:anyURI {source="GARD:0012716"}

[Term]
id: MONDO:0016440
name: elastofibroma dorsi
def: "A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules." [NCIT:C4245]
subset: gard_rare {source="GARD:20580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228243"}
subset: orphanet_rare {source="Orphanet:228243"}
subset: rare
synonym: "Elastofibroma" EXACT [NCIT:C4245]
xref: GARD:20580 {source="MONDO:GARD"}
xref: ICDO:8820/0 {source="NCIT:C4245"}
xref: MEDGEN:87247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4245 {source="MONDO:equivalentTo"}
xref: Orphanet:228243 {source="MONDO:equivalentTo"}
xref: UMLS:C0334460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87247"}
is_a: MONDO:0006209 {source="NCIT:C4245"} ! fibroblastic neoplasm

[Term]
id: MONDO:0016441
name: acquired pseudoxanthoma elasticum
def: "A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type." [PMID:528701]
subset: gard_rare {source="GARD:20581", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228247"}
subset: orphanet_rare {source="Orphanet:228247"}
subset: rare
synonym: "acquired Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:228247]
synonym: "acquired pseudoxanthoma elasticum" EXACT [MONDO:patterns/acquired]
synonym: "acquired pseudoxanthoma elasticum (inherited or acquired)" EXACT [MONDO:patterns/acquired]
synonym: "acquired PXE" EXACT [Orphanet:228247]
synonym: "localised acquired cutaneous pseudoxanthoma elasticum" EXACT OMO:0003005 []
synonym: "localized acquired cutaneous pseudoxanthoma elasticum" EXACT [PMID:528701]
xref: GARD:20581 {source="MONDO:GARD"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:698082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228247 {source="MONDO:equivalentTo"}
xref: SCTID:403401007 {source="MONDO:equivalentTo"}
xref: UMLS:C1274759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:698082"}
intersection_of: MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0016442
name: elastoma
subset: gard_rare {source="GARD:20582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228254"}
subset: orphanet_rare {source="Orphanet:228254"}
subset: rare
synonym: "juvenile elastoma without osteopoikilosis" EXACT [Orphanet:228254]
synonym: "Nevus elasticus" EXACT [Orphanet:228254]
synonym: "Weidman juvenile elastoma" EXACT [Orphanet:228254]
xref: GARD:20582 {source="MONDO:GARD"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:473177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228254 {source="MONDO:equivalentTo"}
xref: SCTID:239140003 {source="MONDO:equivalentTo"}
xref: UMLS:C0473583 {source="MONDO:equivalentTo", source="MEDGEN:473177", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016443
name: papular elastorrhexis
def: "An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities." [NCIT:C4707]
subset: gard_rare {source="GARD:20583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228264"}
subset: orphanet_rare {source="Orphanet:228264"}
subset: rare
synonym: "disseminated nevus anelasticus" EXACT [Orphanet:228264]
synonym: "eruptive collagenoma" EXACT [Orphanet:228264]
synonym: "Nevus anelasticus" EXACT [Orphanet:228264]
xref: GARD:20583 {source="MONDO:GARD"}
xref: MEDGEN:1813032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4707 {source="MONDO:equivalentTo"}
xref: Orphanet:228264 {source="MONDO:equivalentTo"}
xref: SCTID:239138008 {source="MONDO:equivalentTo"}
xref: UMLS:C5680907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1813032"}
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016444
name: primary anetoderma
def: "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause." [Orphanet:228272]
subset: gard_rare {source="GARD:20584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228272"}
subset: orphanet_rare {source="Orphanet:228272"}
subset: rare
synonym: "primary macular atrophy" EXACT [Orphanet:228272]
xref: GARD:20584 {source="MONDO:GARD"}
xref: ICD10CM:L90.1 {source="Orphanet:228272", source="Orphanet:228272/btnt"}
xref: ICD10CM:L90.2 {source="Orphanet:228272", source="Orphanet:228272/btnt"}
xref: MEDGEN:98029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057088 {source="MONDO:equivalentTo"}
xref: Orphanet:228272 {source="MONDO:equivalentTo"}
xref: SCTID:238829001 {source="MONDO:equivalentTo"}
xref: UMLS:C0406550 {source="MEDGEN:98029", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016445
name: familial anetoderma
def: "Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder." [Orphanet:228277]
subset: gard_rare {source="GARD:20585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228277"}
subset: orphanet_rare {source="Orphanet:228277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary anetoderma" EXACT [Orphanet:228277]
synonym: "hereditary macular atrophy" EXACT [Orphanet:228277]
xref: GARD:20585 {source="MONDO:GARD"}
xref: ICD10CM:L90.8 {source="Orphanet:228277/attributed", source="Orphanet:228277/ntbt", source="Orphanet:228277"}
xref: MEDGEN:1387956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228277 {source="MONDO:equivalentTo"}
xref: SCTID:733467001 {source="MONDO:equivalentTo"}
xref: UMLS:C4518793 {source="MEDGEN:1387956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016446
name: acquired cutis laxa
def: "An instance of cutis laxa that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="GARD:20586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228285"}
subset: orphanet_rare {source="Orphanet:228285"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired cutis laxa" EXACT [MONDO:patterns/acquired]
synonym: "cutis laxa acquisita" EXACT [Orphanet:228285]
xref: GARD:20586 {source="MONDO:GARD"}
xref: MEDGEN:590500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228285 {source="MONDO:equivalentTo"}
xref: SCTID:19726003 {source="MONDO:equivalentTo"}
xref: UMLS:C0406549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590500"}
is_a: MONDO:0016175 {source="MONDO:Redundant"} ! cutis laxa
intersection_of: MONDO:0016175 ! cutis laxa
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0016447
name: white fibrous papulosis of the neck
def: "White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region." [Orphanet:228290]
subset: gard_rare {source="GARD:20587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228290"}
subset: orphanet_rare {source="Orphanet:228290"}
subset: rare
xref: GARD:20587 {source="MONDO:GARD"}
xref: MEDGEN:1647664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228290 {source="MONDO:equivalentTo"}
xref: UMLS:C4706484 {source="MEDGEN:1647664", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016448
name: pseudoxanthoma elasticum-like papillary dermal elastolysis
def: "Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement." [Orphanet:228293]
subset: gard_rare {source="GARD:20588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228293"}
subset: orphanet_rare {source="Orphanet:228293"}
subset: rare
synonym: "PXE-like papillary dermal elastolysis" EXACT [Orphanet:228293]
synonym: "PXE-PDE" EXACT []
xref: GARD:20588 {source="MONDO:GARD"}
xref: MEDGEN:1638395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228293 {source="MONDO:equivalentTo"}
xref: SCTID:764105002 {source="MONDO:equivalentTo"}
xref: UMLS:C4049455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638395"}
is_a: MONDO:0005093 {source="Orphanet:228293"} ! skin disorder
relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)

[Term]
id: MONDO:0016449
name: mid-dermal elastolysis
subset: gard_rare {source="GARD:20589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228299"}
subset: orphanet_rare {source="Orphanet:228299"}
subset: rare
xref: GARD:20589 {source="MONDO:GARD"}
xref: MEDGEN:1672488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228299 {source="MONDO:equivalentTo"}
xref: UMLS:C4728147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672488"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0016450
name: autoimmune hemolytic anemia, cold type
def: "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH)." [Orphanet:228312]
subset: disease_grouping
subset: gard_rare {source="GARD:20590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:228312"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cAHA" EXACT [Orphanet:228312]
synonym: "cAIHA" EXACT [Orphanet:228312]
synonym: "cold AIHA" EXACT [Orphanet:228312]
xref: GARD:20590 {source="MONDO:GARD"}
xref: ICD10CM:D59.1 {source="Orphanet:228312/ntbt", source="Orphanet:228312"}
xref: icd11.foundation:1836938544 {source="MONDO:equivalentTo", source="Orphanet:228312", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:104501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228312 {source="MONDO:equivalentTo"}
xref: UMLS:C0175816 {source="MONDO:equivalentTo", source="MEDGEN:104501", source="MONDO:MEDGEN"}
is_a: MONDO:0020108 {source="Orphanet:228312"} ! autoimmune hemolytic anemia

[Term]
id: MONDO:0016451
name: idiopathic hypersomnia with long sleep time
def: "Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia." [Orphanet:228315]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: ICD10CM:F51.1 {source="Orphanet:228315", source="Orphanet:228315/ntbt"}
xref: ICD10CM:G47.11 {source="MONDO:equivalentTo"}
xref: ICD9:327.11 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:750832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228315 {source="MONDO:equivalentObsolete"}
xref: SCTID:442416002 {source="MONDO:equivalentTo"}
xref: UMLS:C2711059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:750832"}
is_a: MONDO:0018044 {source="Orphanet:228315"} ! idiopathic hypersomnia

[Term]
id: MONDO:0016452
name: idiopathic hypersomnia without long sleep time
def: "Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening." [Orphanet:228318]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:F51.1 {source="Orphanet:228318/ntbt", source="Orphanet:228318"}
xref: ICD10CM:G47.12 {source="MONDO:equivalentTo"}
xref: ICD9:327.12 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:736092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228318 {source="MONDO:equivalentObsolete"}
xref: SCTID:442292004 {source="MONDO:equivalentTo"}
xref: UMLS:C1561855 {source="MEDGEN:736092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018044 {source="Orphanet:228318"} ! idiopathic hypersomnia

[Term]
id: MONDO:0016453
name: foodborne botulism
def: "Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs." [Orphanet:228371]
subset: gard_rare {source="GARD:20591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:228371"}
subset: rare
synonym: "intoxication botulism" EXACT [Orphanet:228371]
xref: DOID:0050352 {source="MONDO:equivalentTo"}
xref: GARD:20591 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="Orphanet:228371", source="Orphanet:228371/ntbt"}
xref: icd11.foundation:2033726602 {source="MONDO:equivalentTo", source="Orphanet:228371", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:005.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:320728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128341 {source="MONDO:equivalentTo"}
xref: Orphanet:228371 {source="MONDO:equivalentTo"}
xref: SCTID:398523009 {source="MONDO:equivalentTo"}
xref: UMLS:C1739094 {source="MEDGEN:320728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005498 {source="DOID:0050352", source="NCIT:C128341", source="Orphanet:228371"} ! botulism
relationship: disease_has_feature HP:0000622 ! Blurred vision
relationship: disease_has_feature HP:0000651 ! Diplopia
relationship: disease_has_feature HP:0001260 ! Dysarthria
relationship: disease_has_feature HP:0001618 ! Dysphonia
relationship: disease_has_feature HP:0002015 ! Dysphagia
relationship: disease_has_infectious_agent NCBITaxon:36826 ! Clostridium botulinum A
relationship: disease_has_infectious_agent NCBITaxon:36827 ! Clostridium botulinum B
relationship: disease_has_infectious_agent NCBITaxon:36830 ! Clostridium botulinum E
relationship: disease_has_infectious_agent NCBITaxon:36831 ! Clostridium botulinum F

[Term]
id: MONDO:0016454
name: Charcot-Marie-Tooth disease type 2B5
def: "A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities." [https://orcid.org/0000-0001-5208-3432, Orphanet:228374]
subset: gard_rare {source="GARD:17153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228374"}
subset: orphanet_rare {source="Orphanet:228374"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-CMT2B5" EXACT [Orphanet:228374]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B5" EXACT [Orphanet:228374]
synonym: "Charcot-Marie-Tooth disease type 2B5" EXACT [Orphanet:228374]
synonym: "SEOAN due to NEFL deficiency" EXACT [Orphanet:228374]
synonym: "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" EXACT [Orphanet:228374]
synonym: "severe early-onset axonal neuropathy due to NEFL deficiency" EXACT []
xref: GARD:17153 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:228374/attributed", source="Orphanet:228374/ntbt", source="Orphanet:228374"}
xref: MEDGEN:1668955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228374 {source="MONDO:equivalentTo"}
xref: UMLS:C4749824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1668955"}
is_a: MONDO:0018993 {source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease type 2

[Term]
id: MONDO:0016455
name: virus-associated trichodysplasia spinulosa
def: "Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients." [Orphanet:228379]
subset: gard_rare {source="GARD:20592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228379"}
subset: orphanet_rare {source="Orphanet:228379"}
subset: rare
synonym: "Cyclosporine-induced folliculodystrophy" EXACT [Orphanet:228379]
synonym: "pilomatrix dysplasia" EXACT [Orphanet:228379]
synonym: "trichodysplasia spinulosa" EXACT [Orphanet:228379]
synonym: "TS" EXACT ABBREVIATION [Orphanet:228379]
synonym: "VATS" EXACT ABBREVIATION [Orphanet:228379]
xref: GARD:20592 {source="MONDO:GARD"}
xref: MEDGEN:1432798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228379 {source="MONDO:equivalentTo"}
xref: UMLS:C3267126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1432798"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
is_a: MONDO:0005108 {source="Orphanet:228379"} ! viral infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare

[Term]
id: MONDO:0016456
name: 5q14.3 microdeletion syndrome
def: "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." [Orphanet:228384]
comment: Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this
subset: gard_rare {source="GARD:12166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:228384"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:228384"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5q14.3 deletion syndrome" RELATED [GARD:0012166]
synonym: "autosomal dominant intellectual disability 20" RELATED [GARD:0012166]
synonym: "chromosome 5q14.3 deletion syndrome" RELATED [GARD:0012166]
synonym: "Del(5)(q14.3)" EXACT [Orphanet:228384]
synonym: "monosomy 5q14.3" EXACT [Orphanet:228384]
xref: GARD:12166 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:228384", source="Orphanet:228384/attributed", source="Orphanet:228384/ntbt"}
xref: MEDGEN:930198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228384 {source="MONDO:equivalentTo"}
xref: SCTID:719661007 {source="MONDO:equivalentTo"}
xref: UMLS:C4304529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930198"}
is_a: MONDO:0015159 {source="Orphanet:228384"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016904 {source="Orphanet:228384"} ! partial deletion of the long arm of chromosome 5
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr5q14.3 ! 5q14.3 (Human)
relationship: excluded_subClassOf MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016457
name: ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
def: "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." [Orphanet:228396]
subset: gard_rare {source="GARD:20593", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:228396"}
subset: ordo_malformation_syndrome {source="Orphanet:228396"}
subset: orphanet_rare {source="Orphanet:228396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20593 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:228396/attributed", source="Orphanet:228396/ntbt", source="Orphanet:228396"}
xref: MEDGEN:1378529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228396 {source="MONDO:equivalentTo"}
xref: UMLS:C4510249 {source="MEDGEN:1378529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0016458
name: 8q12 microduplication syndrome
def: "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly." [Orphanet:228399]
subset: gard_rare {source="GARD:12816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228399"}
subset: ordo_malformation_syndrome {source="Orphanet:228399"}
subset: orphanet_rare {source="Orphanet:228399"}
subset: rare
synonym: "chromosome 8q12 microduplication syndrome" RELATED [GARD:0012816]
synonym: "dup(8)(q12)" EXACT [Orphanet:228399]
synonym: "trisomy 8q12" EXACT [Orphanet:228399]
xref: GARD:12816 {source="MONDO:GARD"}
xref: MEDGEN:930173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228399 {source="MONDO:equivalentTo"}
xref: SCTID:719684000 {source="MONDO:equivalentTo"}
xref: UMLS:C4304504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930173"}
is_a: MONDO:0016959 {source="Orphanet:228399"} ! partial duplication of the long arm of chromosome 8
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr8q12 ! 8q12 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome" xsd:anyURI {source="GARD:0012816"}

[Term]
id: MONDO:0016459
name: 2q23.1 microdeletion syndrome
def: "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." [Orphanet:228402]
comment: Editor note: TODO check ORDO xref to OMIM
subset: gard_rare {source="GARD:10998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228402"}
subset: ordo_malformation_syndrome {source="Orphanet:228402"}
subset: orphanet_rare {source="Orphanet:228402"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 2q23.1 microdeletion syndrome" RELATED [GARD:0010998]
synonym: "Del(2)(q23.1)" EXACT [Orphanet:228402]
synonym: "monosomy 2q23.1" EXACT [Orphanet:228402]
synonym: "pseudo-Angelman syndrome" EXACT [Orphanet:228402]
xref: GARD:10998 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:228402", source="Orphanet:228402/attributed", source="Orphanet:228402/ntbt"}
xref: MEDGEN:930201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228402 {source="MONDO:equivalentTo"}
xref: SCTID:719657001 {source="MONDO:equivalentTo"}
xref: UMLS:C4304532 {source="MEDGEN:930201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016901 {source="Orphanet:228402"} ! partial deletion of the long arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2q23.1 ! 2q23.1 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:228402", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:228402", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome" xsd:anyURI {source="GARD:0010998"}

[Term]
id: MONDO:0016460
name: polyvalvular heart disease syndrome
def: "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." [Orphanet:228410]
subset: gard_rare {source="GARD:20594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228410"}
subset: ordo_malformation_syndrome {source="Orphanet:228410"}
subset: orphanet_rare {source="Orphanet:228410"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHD syndrome" EXACT [Orphanet:228410]
xref: GARD:20594 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:228410/attributed", source="Orphanet:228410/ntbt", source="Orphanet:228410"}
xref: MEDGEN:1376905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228410 {source="MONDO:equivalentTo"}
xref: SCTID:723448007 {source="MONDO:equivalentTo"}
xref: UMLS:C4509918 {source="MONDO:equivalentTo", source="MEDGEN:1376905", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015160 {source="Orphanet:228410"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis

[Term]
id: MONDO:0016461
name: 5q35 microduplication syndrome
def: "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." [Orphanet:228415]
subset: gard_rare {source="GARD:20595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228415"}
subset: ordo_malformation_syndrome {source="Orphanet:228415"}
subset: orphanet_rare {source="Orphanet:228415"}
subset: rare
synonym: "dup(5)(q35)" EXACT [Orphanet:228415]
synonym: "trisomy 5q35" EXACT [Orphanet:228415]
xref: GARD:20595 {source="MONDO:GARD"}
xref: MEDGEN:930195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228415 {source="MONDO:equivalentTo"}
xref: SCTID:719665003 {source="MONDO:equivalentTo"}
xref: UMLS:C4304526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930195"}
is_a: MONDO:0016956 {source="Orphanet:228415"} ! partial trisomy of the long arm of chromosome 5
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr5q35 ! 5q35 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016462
name: isolated agammaglobulinemia
def: "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." [Orphanet:229717]
subset: gard_rare {source="GARD:17155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:229717"}
subset: orphanet_rare {source="Orphanet:229717"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated hypogammaglobulinemia" EXACT [Orphanet:229717]
synonym: "nonsyndromic agammaglobulinemia" EXACT [MONDO:patterns/isolated]
xref: GARD:17155 {source="MONDO:GARD"}
xref: MEDGEN:1639972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:229717 {source="MONDO:equivalentTo"}
xref: SCTID:764858009 {source="MONDO:equivalentTo"}
xref: UMLS:C4707181 {source="MEDGEN:1639972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015977 {source="MONDO:Redundant", source="Orphanet:229717"} ! agammaglobulinemia
intersection_of: MONDO:0015977 ! agammaglobulinemia
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0016463
name: syndromic agammaglobulinemia
def: "A agammaglobulinemia that is part of a larger syndrome." [MONDO:patterns/syndromic]
comment: The NCIT class hypogammaglobulinemia is implicitly syndromic so we place here.
subset: disease_grouping
subset: gard_rare {source="GARD:20596", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:229720"}
subset: rare
synonym: "hypogammaglobulinemia" BROAD [NCIT:C26931]
synonym: "syndrome associated with agammaglobulinemia" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic agammaglobulinemia" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic hypogammaglobulinemia" EXACT []
xref: GARD:20596 {source="MONDO:GARD"}
xref: MEDGEN:1843258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26931 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:229720 {source="MONDO:equivalentTo"}
xref: UMLS:C5680904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843258"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C26931/inferred"} ! syndromic disease
is_a: MONDO:0015977 {source="MONDO:Redundant", source="Orphanet:229720"} ! agammaglobulinemia
intersection_of: MONDO:0015977 ! agammaglobulinemia
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation

[Term]
id: MONDO:0016464
name: insulin-resistance syndrome type B
def: "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction." [Orphanet:2298]
subset: gard_rare {source="GARD:3009", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2298"}
subset: orphanet_rare {source="Orphanet:2298"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "insulin-resistance type B" RELATED [GARD:0003009]
xref: GARD:3009 {source="MONDO:GARD"}
xref: ICD10CM:E13 {source="Orphanet:2298", source="Orphanet:2298/attributed", source="Orphanet:2298/ntbt"}
xref: MEDGEN:574967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2298 {source="GARD:0003009", source="MONDO:equivalentTo"}
xref: UMLS:C0342337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574967"}
is_a: MONDO:0001933 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine pancreas disorder
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b" xsd:anyURI {source="GARD:0003009"}

[Term]
id: MONDO:0016465
name: obsolete multiple intestinal atresia
is_obsolete: true
replaced_by: MONDO:0009465

[Term]
id: MONDO:0016466
name: asbestosis
def: "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain." [NCIT:C84573]
subset: gard_rare {source="GARD:5852", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2302"}
subset: orphanet_rare {source="Orphanet:2302"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asbestos dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus]
synonym: "asbestos intoxication" RELATED [Orphanet:2302]
synonym: "asbestos pneumoconiosis" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "asbestosis" EXACT [MONDO:0005653]
synonym: "idiopathic interstitial pneumonitis - from asbestos exposure" RELATED [GARD:0005852]
synonym: "pneumoconiosis from asbestos dust" EXACT []
synonym: "pulmonary fibrosis - from asbestos exposure" RELATED [GARD:0005852]
xref: CSP:2596-4484 {source="DOID:10320"}
xref: DOID:10320 {source="MONDO:equivalentTo", source="EFO:0007153"}
xref: EFO:0007153 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5852 {source="MONDO:GARD"}
xref: ICD10CM:J61 {source="Orphanet:2302/ntbt", source="Orphanet:2302", source="DOID:10320"}
xref: icd11.foundation:898495881 {source="Orphanet:2302", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:501 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10320"}
xref: MEDGEN:2462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001195 {source="MONDO:equivalentTo", source="EFO:0007153", source="DOID:10320"}
xref: NCIT:C84573 {source="MONDO:equivalentTo", source="NCIT:C84573", source="DOID:10320"}
xref: Orphanet:2302 {source="MONDO:equivalentTo"}
xref: SCTID:155589004 {source="DOID:10320"}
xref: SCTID:196006003 {source="DOID:10320"}
xref: SCTID:22607003 {source="MONDO:equivalentTo", source="DOID:10320"}
xref: SCTID:266400008 {source="DOID:10320"}
xref: UMLS:C0003949 {source="MEDGEN:2462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015926 {source="DOID:10320", source="EFO:0007153", source="MESH:D001195", source="MONDO:Redundant", source="NCIT:C84573", source="Orphanet:2302"} ! pneumoconiosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus ENVO:02000106 ! asbestos dust

[Term]
id: MONDO:0016467
name: isotretinoin syndrome
def: "Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy." [Orphanet:2305]
subset: gard_rare {source="GARD:18765", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1140", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2305"}
subset: ordo_malformation_syndrome {source="Orphanet:2305"}
subset: orphanet_rare {source="Orphanet:2305"}
subset: rare
synonym: "Accutane fetal effects of" RELATED [GARD:0000517]
synonym: "Accutane foetal effects of" RELATED OMO:0003005 []
synonym: "Accutane-exposed pregnancies" RELATED [GARD:0000517]
synonym: "Acutane embryopathy" RELATED [GARD:0000517]
synonym: "fetal isotretinoin syndrome" EXACT [NCIT:C98929]
synonym: "Fetal Retinoid Syndrome" EXACT [NORD:1140]
synonym: "fetal retinoid syndrome" EXACT [NCIT:C98929]
synonym: "foetal isotretinoin syndrome" EXACT OMO:0003005 []
synonym: "foetal retinoid syndrome" EXACT OMO:0003005 []
synonym: "Isotretinoin (RoAccutane) embryopathy" RELATED [GARD:0000517]
synonym: "Isotretinoin embryopathy" EXACT [GARD:0000517, Orphanet:2305]
synonym: "Isotretinoin fetal effects of" RELATED [GARD:0000517]
synonym: "Isotretinoin foetal effects of" RELATED OMO:0003005 []
synonym: "Isotretinoin teratogen syndrome" RELATED [GARD:0000517]
synonym: "retinoic acid embryopathy" EXACT [Orphanet:2305]
synonym: "Retinoids embryopathy" EXACT [Orphanet:2305]
xref: GARD:18765 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:2305", source="Orphanet:2305/ntbt"}
xref: MEDGEN:419683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535670 {source="MONDO:equivalentTo"}
xref: NCIT:C98929 {source="MONDO:equivalentTo"}
xref: NORD:1140 {source="MONDO:NORD"}
xref: Orphanet:2305 {source="MONDO:equivalentTo"}
xref: SCTID:36871005 {source="MONDO:equivalentTo"}
xref: UMLS:C2930972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419683"}
is_a: MONDO:0002254 {source="NCIT:C98929"} ! syndromic disease
is_a: MONDO:0009473 {source="https://orcid.org/0000-0002-6601-2165"} ! isotretinoin-like syndrome
is_a: MONDO:0016677 {source="MESH:C535670", source="Orphanet:2305"} ! toxic or drug-related embryofetopathy
relationship: realized_in_response_to_stimulus CHEBI:6067 ! isotretinoin

[Term]
id: MONDO:0016468
name: toxin-mediated infectious botulism
def: "Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism)." [Orphanet:230800]
subset: gard_rare {source="GARD:20597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:230800"}
subset: rare
synonym: "toxin-mediated infective botulism" EXACT [Orphanet:230800]
xref: GARD:20597 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="Orphanet:230800", source="Orphanet:230800/ntbt"}
xref: MEDGEN:1842703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:230800 {source="MONDO:equivalentTo"}
xref: UMLS:C5679843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842703"}
is_a: MONDO:0005498 {source="Orphanet:230800"} ! botulism

[Term]
id: MONDO:0016469
name: Ehlers-Danlos syndrome, vascular-like type
def: "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." [Orphanet:230845]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EDS, vascular-like type" EXACT [Orphanet:230845]
xref: ICD10CM:Q79.6 {source="Orphanet:230845/attributed", source="Orphanet:230845/ntbt", source="Orphanet:230845"}
xref: Orphanet:230845 {source="MONDO:equivalentObsolete"}
xref: SCTID:720862007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:230845"} ! vascular disorder
is_a: MONDO:0020066 {source="Orphanet:230845"} ! Ehlers-Danlos syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare

[Term]
id: MONDO:0016470
name: Ehlers-Danlos/osteogenesis imperfecta syndrome
def: "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." [Orphanet:230857]
subset: gard_rare {source="GARD:17156", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:230857"}
subset: orphanet_rare {source="Orphanet:230857"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS/OI syndrome" EXACT [Orphanet:230857]
xref: GARD:17156 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:230857/attributed", source="Orphanet:230857/ntbt", source="Orphanet:230857"}
xref: MEDGEN:1386497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565178 {source="MONDO:equivalentTo"}
xref: OMIMPS:619115 {source="MONDO:equivalentTo"}
xref: Orphanet:230857 {source="MONDO:equivalentTo"}
xref: UMLS:C4518787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386497"}
is_a: MONDO:0020066 {source="MESH:C565178", source="Orphanet:230857"} ! Ehlers-Danlos syndrome
relationship: disease_has_feature HP:0004349 {source="Orphanet:230857"} ! Reduced bone mineral density
relationship: disease_has_feature MONDO:0019019 {source="https://orcid.org/0000-0002-6601-2165"} ! osteogenesis imperfecta
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:230857", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619115"} ! inherited

[Term]
id: MONDO:0016471
name: pachyonychia congenita
def: "Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa." [Orphanet:2309]
subset: gard_rare {source="GARD:10753", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1542"}
subset: ordo_disorder {source="Orphanet:2309"}
subset: orphanet_rare {source="Orphanet:2309"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital pachyonychia" RELATED [GARD:0010753]
synonym: "Jackson-Lawler type pachyonychia congenita" EXACT [DOID:0050449]
synonym: "Jadassohn-Lewandowsky syndrome" EXACT [DOID:0050449]
synonym: "pachyonychia congenita syndrome" RELATED [GARD:0010753]
synonym: "pachyonychia congenita type 1" NARROW [DOID:0050449]
synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" EXACT [DOID:0050449]
synonym: "PC" EXACT ABBREVIATION [Orphanet:2309]
xref: DOID:0050449 {source="MONDO:equivalentTo"}
xref: GARD:10753 {source="MONDO:GARD"}
xref: ICD10CM:Q84.5 {source="Orphanet:2309/attributed", source="Orphanet:2309/ntbt", source="Orphanet:2309"}
xref: MEDGEN:78556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053549 {source="Orphanet:2309/e", source="MONDO:equivalentTo", source="DOID:0050449", source="Orphanet:2309"}
xref: NCIT:C84986 {source="MONDO:equivalentTo", source="DOID:0050449"}
xref: NORD:1542 {source="MONDO:NORD"}
xref: OMIMPS:167200 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2309 {source="MONDO:equivalentTo"}
xref: SCTID:205600001 {source="DOID:0050449"}
xref: SCTID:39427000 {source="DOID:0050449"}
xref: UMLS:C0265334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78556"}
is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:167200"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita" xsd:anyURI {source="GARD:0010753"}

[Term]
id: MONDO:0016472
name: dracunculiasis
def: "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas)." [Orphanet:231]
subset: gard_rare {source="GARD:6286", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1060"}
subset: ordo_disorder {source="Orphanet:231"}
subset: orphanet_rare {source="Orphanet:231"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dracontiasis" EXACT [DOID:14418, ICD9CM:125.7]
synonym: "Dracunculosis" EXACT [NORD:1060, Orphanet:231]
synonym: "Dracunculus medinensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dracunculus medinensis disease or disorder" EXACT []
synonym: "Dracunculus medinensis infectious disease" EXACT []
synonym: "Guinea worm disease" EXACT [Orphanet:231]
synonym: "Guinea worm infection" RELATED [GARD:0006286]
synonym: "GWD" RELATED ABBREVIATION [GARD:0006286]
synonym: "infection by Dracunculus medinensis" EXACT [DOID:14418]
synonym: "Medina worm disease" EXACT [Orphanet:231]
synonym: "medinensis" EXACT [Orphanet:231]
synonym: "parasitic infection caused by Dracunculus medinensis" RELATED [GARD:0006286]
xref: DOID:14418 {source="MONDO:equivalentTo", source="EFO:0007241"}
xref: EFO:0007241 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6286 {source="MONDO:GARD"}
xref: ICD10CM:B72 {source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="Orphanet:231"}
xref: icd11.foundation:1662537619 {source="MONDO:equivalentTo", source="Orphanet:231"}
xref: ICD9:125.7 {source="DOID:14418", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10013618 {source="Orphanet:231/e", source="Orphanet:231"}
xref: MEDGEN:41653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004320 {source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="EFO:0007241", source="Orphanet:231"}
xref: NCIT:C84677 {source="DOID:14418", source="MONDO:equivalentTo"}
xref: NORD:1060 {source="MONDO:NORD"}
xref: Orphanet:231 {source="MONDO:equivalentTo"}
xref: SCTID:396334002 {source="DOID:14418", source="MONDO:equivalentTo"}
xref: SCTID:48874008 {source="DOID:14418"}
xref: UMLS:C0013100 {source="MEDGEN:41653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="DOID:14418/inferred", source="EFO:0007241", source="MESH:D004320/inferred", source="MONDO:Redundant", source="NCIT:C84677"} ! parasitic infectious disease
is_a: MONDO:0016075 {source="Orphanet:231"} ! filariasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:318479 ! Dracunculus medinensis
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_infectious_agent NCBITaxon:318479 {source="MONDO:Wikidata"} ! Dracunculus medinensis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis" xsd:anyURI {source="GARD:0006286"}

[Term]
id: MONDO:0016473
name: familial rhabdoid tumor
def: "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." [NCIT:C93268]
subset: gard_rare {source="GARD:17159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231108"}
subset: orphanet_rare {source="Orphanet:231108"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial posterior fossa brain tumor syndrome of infancy" EXACT [NCIT:C93268]
synonym: "familial posterior fossa brain tumour syndrome of infancy" EXACT OMO:0003005 []
synonym: "familial rhabdoid tumor" EXACT CLINGEN_LABEL []
synonym: "hereditary rhabdoid tumor" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary rhabdoid tumour" EXACT OMO:0003005 []
synonym: "rhabdoid predisposition syndrome" EXACT [NCIT:C93268]
synonym: "rhabdoid tumor predisposition syndrome" EXACT [NCIT:C93268, Orphanet:231108]
synonym: "rhabdoid tumour predisposition syndrome" EXACT OMO:0003005 []
synonym: "RTPS" EXACT ABBREVIATION [Orphanet:231108]
xref: GARD:17159 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:231108", source="Orphanet:231108/attributed", source="Orphanet:231108/ntbt"}
xref: MEDGEN:457750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C93268 {source="MONDO:equivalentTo"}
xref: OMIMPS:609322 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:231108 {source="MONDO:equivalentTo"}
xref: UMLS:C2985524 {source="MEDGEN:457750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002728 {source="MONDO:Redundant", source="Orphanet:231108"} ! rhabdoid tumor
is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C93268/inferred", source="Orphanet:231108/inferred"} ! hereditary disease
is_a: MONDO:0015356 {source="NCIT:C93268"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: disease_has_feature MONDO:0002728 ! rhabdoid tumor
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609322"} ! inherited

[Term]
id: MONDO:0016474
name: drug-induced lupus erythematosus
def: "An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs." [NCIT:C114354]
subset: gard_rare {source="GARD:20599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231111"}
subset: orphanet_rare {source="Orphanet:231111"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DIL" BROAD ABBREVIATION [DOID:0040093]
synonym: "DILE" EXACT ABBREVIATION [DOID:0040093, Orphanet:231111]
synonym: "drug induced lupus" EXACT [NCIT:C114354]
synonym: "drug induced lupus erythematosus" EXACT [NCIT:C114354]
synonym: "drug-induced lupus" EXACT [NCIT:C114354]
xref: DOID:0040093 {source="MONDO:equivalentTo"}
xref: GARD:20599 {source="MONDO:GARD"}
xref: ICD10CM:M32.0 {source="Orphanet:231111", source="DOID:0040093", source="Orphanet:231111/e"}
xref: icd11.foundation:1239818910 {source="Orphanet:231111", source="MONDO:equivalentTo"}
xref: MedDRA:10013706 {source="Orphanet:231111", source="Orphanet:231111/e"}
xref: MEDGEN:537988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114354 {source="MONDO:equivalentTo"}
xref: Orphanet:231111 {source="MONDO:equivalentTo"}
xref: SCTID:80258006 {source="MONDO:equivalentTo"}
xref: SCTID:821398018 {source="DOID:0040093"}
xref: UMLS:C0263591 {source="MEDGEN:537988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004670 {source="DOID:0040093", source="MONDO:Redundant", source="NCIT:C114354"} ! lupus erythematosus
intersection_of: MONDO:0004670 ! lupus erythematosus
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0016475
name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
subset: gard_rare {source="GARD:20600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:231117"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231117"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231117]
xref: GARD:20600 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:231117", source="Orphanet:231117/attributed", source="Orphanet:231117/ntbt"}
xref: MEDGEN:1842606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231117 {source="MONDO:equivalentTo"}
xref: UMLS:C5680922 {source="MEDGEN:1842606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007534 {source="Orphanet:231117"} ! Beckwith-Wiedemann syndrome

[Term]
id: MONDO:0016476
name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
subset: gard_rare {source="GARD:17160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:231120"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17160 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:231120", source="Orphanet:231120/attributed", source="Orphanet:231120/ntbt"}
xref: MEDGEN:1826157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231120 {source="MONDO:equivalentTo"}
xref: UMLS:C5680918 {source="MEDGEN:1826157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007534 {source="Orphanet:231120"} ! Beckwith-Wiedemann syndrome

[Term]
id: MONDO:0016477
name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
subset: gard_rare {source="GARD:20601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:231127"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231127"}
subset: rare
xref: GARD:20601 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:231127", source="Orphanet:231127/attributed", source="Orphanet:231127/ntbt"}
xref: MEDGEN:1826104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231127 {source="MONDO:equivalentTo"}
xref: UMLS:C5680919 {source="MEDGEN:1826104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007534 {source="Orphanet:231127"} ! Beckwith-Wiedemann syndrome
is_a: MONDO:0016893 {source="Orphanet:231127"} ! partial deletion of the short arm of chromosome 11
relationship: disease_arises_from_structure CHR:9606-chr11p15 {source="https://orcid.org/0000-0002-4142-7153"} ! 11p15 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016478
name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
subset: gard_rare {source="GARD:20602", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:231130"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231130"}
subset: rare
xref: GARD:20602 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:231130", source="Orphanet:231130/attributed", source="Orphanet:231130/ntbt"}
xref: MEDGEN:1826105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231130 {source="MONDO:equivalentTo"}
xref: UMLS:C5680920 {source="MEDGEN:1826105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007534 {source="Orphanet:231130"} ! Beckwith-Wiedemann syndrome

[Term]
id: MONDO:0016479
name: silver-Russell syndrome due to 7p11.2p13 microduplication
subset: gard_rare {source="GARD:20603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:231137"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231137"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Silver-Russell syndrome due to 7p11.2-p13 microduplication" EXACT [Orphanet:231137]
synonym: "Silver-Russell syndrome due to dup(7)(p11.2p13)" EXACT [Orphanet:231137]
synonym: "Silver-Russell syndrome due to trisomy 7p11.2-p13" EXACT [Orphanet:231137]
synonym: "Silver-Russell syndrome due to trisomy 7p11.2p13" EXACT [Orphanet:231137]
xref: GARD:20603 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:231137", source="Orphanet:231137/attributed", source="Orphanet:231137/ntbt"}
xref: MEDGEN:1826059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231137 {source="MONDO:equivalentTo"}
xref: UMLS:C5679840 {source="MEDGEN:1826059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0008394 {source="Orphanet:231137"} ! Silver-Russell syndrome
is_a: MONDO:0016944 {source="Orphanet:231137"} ! partial duplication of the short arm of chromosome 7
relationship: disease_arises_from_structure CHR:9606-chr7p11.2-p13 {source="https://orcid.org/0000-0002-4142-7153"} ! 7p11.2-p13 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016480
name: silver-Russell syndrome due to an imprinting defect of 11p15
subset: gard_rare {source="GARD:20604", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:231140"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231140"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Silver-Russell syndrome due to an imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231140]
xref: GARD:20604 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:231140/attributed", source="Orphanet:231140/ntbt", source="Orphanet:231140"}
xref: MEDGEN:1826102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231140 {source="MONDO:equivalentTo"}
xref: UMLS:C5680916 {source="MEDGEN:1826102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008394 {source="Orphanet:231140"} ! Silver-Russell syndrome

[Term]
id: MONDO:0016481
name: silver-Russell syndrome due to 11p15 microduplication
subset: gard_rare {source="GARD:20605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:231144"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231144"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20605 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:231144", source="Orphanet:231144/attributed", source="Orphanet:231144/ntbt"}
xref: MEDGEN:1826103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231144 {source="MONDO:equivalentTo"}
xref: UMLS:C5680917 {source="MEDGEN:1826103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0008394 {source="Orphanet:231144"} ! Silver-Russell syndrome
is_a: MONDO:0016948 {source="Orphanet:231144"} ! partial duplication of the short arm of chromosome 11
relationship: disease_arises_from_structure CHR:9606-chr11p15 {source="https://orcid.org/0000-0002-4142-7153"} ! 11p15 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016482
name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
subset: gard_rare {source="GARD:20606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:231147"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231147"}
subset: rare
synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:231147]
synonym: "UPD(11)mat" EXACT [Orphanet:231147]
xref: GARD:20606 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:231147", source="Orphanet:231147/attributed", source="Orphanet:231147/ntbt"}
xref: MEDGEN:1843295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231147 {source="MONDO:equivalentTo"}
xref: UMLS:C5679841 {source="MEDGEN:1843295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008394 {source="Orphanet:231147"} ! Silver-Russell syndrome
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr11 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 11 (Human)

[Term]
id: MONDO:0016483
name: intracranial berry aneurysm
def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." [DOID:0060228, http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, http://radiopaedia.org/articles/saccular-cerebral-aneurysm, http://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85\,P08772/]
subset: gard_rare {source="GARD:17161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231160"}
subset: orphanet_rare {source="Orphanet:231160"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aneurysm, intracranial berry" EXACT [OMIMPS:105800]
synonym: "familial aneurysmal subarachnoid haemorrhage" EXACT OMO:0003005 []
synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT [DOID:0060228]
synonym: "familial berry aneurysm" EXACT [DOID:0060228, Orphanet:231160]
synonym: "familial cerebral saccular aneurysm" RELATED [Orphanet:231160]
synonym: "familial intracranial saccular aneurysm" EXACT [DOID:0060228, Orphanet:231160]
synonym: "saccular cerebral aneurysm" EXACT [DOID:0060228]
xref: DOID:0060228 {source="MONDO:equivalentTo"}
xref: GARD:17161 {source="MONDO:GARD"}
xref: HP:0007029 {source="MONDO:otherHierarchy", source="DOID:0060228"}
xref: ICD10CM:I60.7 {source="DOID:0060228"}
xref: ICD10CM:I67.1 {source="Orphanet:231160/attributed", source="Orphanet:231160/ntbt", source="Orphanet:231160"}
xref: icd11.foundation:59881644 {source="MONDO:equivalentTo", source="Orphanet:231160", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:825711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:105800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:231160 {source="MONDO:equivalentTo", source="DOID:0060228"}
xref: SCTID:703226008 {source="MONDO:equivalentTo"}
xref: UMLS:C3839866 {source="MEDGEN:825711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005291 {source="DOID:0060228"} ! brain aneurysm
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105800"} ! inherited

[Term]
id: MONDO:0016484
name: Usher syndrome type 2
def: "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa." [NCIT:C126328]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5440", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231178"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "USH2" EXACT ABBREVIATION [DOID:0110827, Orphanet:231178]
synonym: "Usher syndrome type 2" EXACT CLINGEN_LABEL []
xref: DOID:0110827 {source="MONDO:equivalentTo"}
xref: GARD:5440 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:231178/attributed", source="Orphanet:231178/ntbt", source="MONDO:relatedTo", source="Orphanet:231178", source="DOID:0110827"}
xref: MEDGEN:83288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200943 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126328 {source="MONDO:equivalentTo"}
xref: Orphanet:231178 {source="MONDO:equivalentTo", source="DOID:0110827"}
xref: SCTID:232058008 {source="MONDO:equivalentTo"}
xref: UMLS:C0339534 {source="MEDGEN:83288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019501 {source="DOID:0110827", source="NCIT:C126328", source="Orphanet:231178"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:231178"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0016485
name: Usher syndrome type 3
def: "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life." [NCIT:C126329]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231183"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "USH3" EXACT ABBREVIATION [DOID:0110828, Orphanet:231183]
synonym: "Usher syndrome type 3" EXACT CLINGEN_LABEL []
xref: DOID:0110828 {source="MONDO:equivalentTo"}
xref: GARD:5442 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:231183/attributed", source="Orphanet:231183/ntbt", source="DOID:0110828", source="Orphanet:231183"}
xref: MEDGEN:339336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200944 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C126329 {source="MONDO:equivalentTo"}
xref: Orphanet:231183 {source="MONDO:equivalentTo", source="DOID:0110828"}
xref: UMLS:C1568248 {source="MEDGEN:339336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019501 {source="DOID:0110828", source="NCIT:C126329", source="Orphanet:231183"} ! Usher syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:231183"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0016486
name: beta-thalassemia major
def: "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." [Orphanet:231214]
subset: gard_rare {source="GARD:17162", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231214"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta thalassemia Major" EXACT [NCIT:C129699]
synonym: "Cooley anaemia" EXACT OMO:0003005 []
synonym: "Cooley anemia" EXACT [Orphanet:231214]
synonym: "Cooley's Anaemia" EXACT OMO:0003005 []
synonym: "Cooley's Anemia" EXACT [NCIT:C129699]
synonym: "Mediterranean anaemia" EXACT OMO:0003005 []
synonym: "Mediterranean anemia" EXACT [Orphanet:231214]
xref: DOID:0080771 {source="MONDO:equivalentTo"}
xref: GARD:17162 {source="MONDO:GARD"}
xref: ICD10CM:D56.1 {source="Orphanet:231214", source="Orphanet:231214/attributed", source="Orphanet:231214/ntbt"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129699 {source="MONDO:equivalentTo"}
xref: Orphanet:231214 {source="MONDO:equivalentTo"}
xref: SCTID:26682008 {source="MONDO:equivalentTo"}
xref: UMLS:C0002875 {source="MONDO:equivalentTo", source="MEDGEN:283", source="MONDO:MEDGEN"}
is_a: MONDO:0013517 ! beta-thalassemia HBB/LCRB
is_a: MONDO:0019402 {source="MONDO:Redundant", source="NCIT:C129699", source="Orphanet:231214"} ! beta thalassemia

[Term]
id: MONDO:0016487
name: beta-thalassemia intermedia
def: "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." [Orphanet:231222]
subset: gard_rare {source="GARD:17163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231222"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080772 {source="MONDO:equivalentTo"}
xref: GARD:17163 {source="MONDO:GARD"}
xref: ICD10CM:D56.1 {source="Orphanet:231222/attributed", source="Orphanet:231222/ntbt", source="Orphanet:231222"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062923 {source="Orphanet:231222", source="Orphanet:231222/e"}
xref: MEDGEN:450544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231222 {source="MONDO:equivalentTo"}
xref: SCTID:191189009 {source="MONDO:equivalentTo"}
xref: UMLS:C0472767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450544"}
is_a: MONDO:0013517 ! beta-thalassemia HBB/LCRB

[Term]
id: MONDO:0016488
name: obsolete beta-thalassemia associated with another hemoglobin anomaly
def: "OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." [Orphanet:231230]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases'
subset: ordo_group_of_disorders {source="Orphanet:231230"}
synonym: "Beta-thalassemia associated with another Hb anomaly" EXACT [Orphanet:231230]
xref: GARD:20607 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D58.2 {source="Orphanet:231230", source="Orphanet:231230/attributed", source="Orphanet:231230/ntbt"}
xref: Orphanet:231230 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017145

[Term]
id: MONDO:0016489
name: delta-beta-thalassemia
def: "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." [Orphanet:231237]
subset: gard_rare {source="GARD:17165", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231237"}
subset: orphanet_rare {source="Orphanet:231237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080773 {source="MONDO:equivalentTo"}
xref: GARD:17165 {source="MONDO:GARD"}
xref: ICD10CM:D56.2 {source="MONDO:equivalentTo", source="Orphanet:231237/specific", source="Orphanet:231237", source="Orphanet:231237/e"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10012236 {source="Orphanet:231237", source="Orphanet:231237/e"}
xref: MEDGEN:78790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562716 {source="MONDO:equivalentTo"}
xref: NCIT:C172823 {source="MONDO:equivalentTo"}
xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:231237", source="Orphanet:231237/ntbt"}
xref: Orphanet:231237 {source="MONDO:equivalentTo"}
xref: SCTID:16360009 {source="MONDO:equivalentTo"}
xref: UMLS:C0271985 {source="MONDO:equivalentTo", source="MEDGEN:78790", source="MONDO:MEDGEN"}
is_a: MONDO:0017145 {source="Orphanet:231237"} ! beta-thalassemia and related diseases

[Term]
id: MONDO:0016490
name: hemoglobin C-beta-thalassemia syndrome
def: "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia." [Orphanet:231242]
subset: gard_rare {source="GARD:20608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231242"}
subset: orphanet_rare {source="Orphanet:231242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C-beta-thalassemia" EXACT [Orphanet:231242]
synonym: "HBC-beta-thalassemia syndrome" EXACT [Orphanet:231242]
xref: GARD:20608 {source="MONDO:GARD"}
xref: ICD10CM:D58.2 {source="Orphanet:231242/attributed", source="Orphanet:231242/ntbt", source="Orphanet:231242"}
xref: MEDGEN:526128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231242 {source="MONDO:equivalentTo"}
xref: UMLS:C0221020 {source="MEDGEN:526128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017145 {source="Orphanet:231242"} ! beta-thalassemia and related diseases

[Term]
id: MONDO:0016491
name: hemoglobin E-beta-thalassemia syndrome
def: "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia." [Orphanet:231249]
subset: gard_rare {source="GARD:20609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231249"}
subset: orphanet_rare {source="Orphanet:231249"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "E-beta-thalassemia" EXACT [Orphanet:231249]
synonym: "HbE-beta-thalassemia syndrome" EXACT [Orphanet:231249]
xref: GARD:20609 {source="MONDO:GARD"}
xref: ICD10CM:D58.2 {source="Orphanet:231249", source="Orphanet:231249/attributed", source="Orphanet:231249/ntbt"}
xref: MEDGEN:632783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231249 {source="MONDO:equivalentTo"}
xref: UMLS:C0472777 {source="MEDGEN:632783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017145 {source="Orphanet:231249"} ! beta-thalassemia and related diseases

[Term]
id: MONDO:0016492
name: obsolete beta-thalassemia with other manifestations
def: "OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." [Orphanet:231386]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases'
subset: ordo_group_of_disorders {source="Orphanet:231386"}
xref: GARD:20610 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D58.2 {source="Orphanet:231386", source="Orphanet:231386/attributed", source="Orphanet:231386/ntbt"}
xref: Orphanet:231386 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017145

[Term]
id: MONDO:0016493
name: obsolete variant of Guillain-Barre syndrome
subset: ordo_group_of_disorders {source="Orphanet:231413"}
synonym: "variant of GBS" EXACT [Orphanet:231413]
synonym: "variant of Guillain-Barré syndrome" RELATED [Orphanet:231413]
xref: GARD:20611 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G61.0 {source="Orphanet:231413", source="Orphanet:231413/ntbt"}
xref: Orphanet:231413 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016494
name: obsolete regional variant of Guillain-Barre syndrome
subset: ordo_group_of_disorders {source="Orphanet:231416"}
synonym: "regional variant of GBS" EXACT [Orphanet:231416]
synonym: "regional variant of Guillain-Barré syndrome" RELATED [Orphanet:231416]
xref: GARD:20612 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G61.0 {source="Orphanet:231416", source="Orphanet:231416/ntbt"}
xref: Orphanet:231416 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016495
name: obsolete functional variant of Guillain-Barre syndrome
subset: ordo_group_of_disorders {source="Orphanet:231419"}
synonym: "functional variant of GBS" EXACT [Orphanet:231419]
synonym: "functional variant of Guillain-Barré syndrome" RELATED [Orphanet:231419]
xref: GARD:20613 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G61.0 {source="Orphanet:231419/ntbt", source="Orphanet:231419"}
xref: Orphanet:231419 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016496
name: pharyngeal-cervical-brachial variant of Guillain-Barre syndrome
subset: gard_rare {source="GARD:20614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231426"}
subset: orphanet_rare {source="Orphanet:231426"}
subset: rare
synonym: "PCB variant of GBS" EXACT [Orphanet:231426]
synonym: "PCB variant of Guillain-Barre syndrome" EXACT [Orphanet:231426]
synonym: "PCB variant of Guillain-Barré syndrome" EXACT [Orphanet:231426]
synonym: "pharyngeal-cervical-brachial variant of Guillain-Barré syndrome" RELATED [Orphanet:231426]
synonym: "pharyngeal-cervical-brachial weakness" EXACT [Orphanet:231426]
synonym: "pharyngo-cervico-brachial variant of GBS" EXACT [Orphanet:231426]
synonym: "pharyngo-cervico-brachial variant of Guillain-Barre syndrome" EXACT [Orphanet:231426]
synonym: "pharyngo-cervico-brachial variant of Guillain-Barré syndrome" EXACT [Orphanet:231426]
xref: GARD:20614 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:231426/ntbt", source="Orphanet:231426"}
xref: MEDGEN:1682775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231426 {source="MONDO:equivalentTo"}
xref: UMLS:C5190783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682775"}
is_a: MONDO:0016218 {source="PMID:25072194", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Guillain-Barre syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016497
name: paraparetic variant of Guillain-Barre syndrome
def: "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal." [Orphanet:231445]
subset: gard_rare {source="GARD:20615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231445"}
subset: orphanet_rare {source="Orphanet:231445"}
subset: rare
synonym: "paraparetic variant of GBS" EXACT [Orphanet:231445]
synonym: "paraparetic variant of Guillain-Barré syndrome" RELATED [Orphanet:231445]
xref: GARD:20615 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:231445", source="Orphanet:231445/ntbt"}
xref: MEDGEN:1644763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231445 {source="MONDO:equivalentTo"}
xref: UMLS:C4707803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644763"}
is_a: MONDO:0016218 {source="PMID:28514704", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Guillain-Barre syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016498
name: acute pure sensory neuropathy
subset: gard_rare {source="GARD:20616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231450"}
subset: orphanet_rare {source="Orphanet:231450"}
subset: rare
synonym: "acute pure sensory GBS" EXACT [Orphanet:231450]
synonym: "acute pure sensory Guillain-Barre syndrome" EXACT [Orphanet:231450]
synonym: "acute pure sensory Guillain-Barré syndrome" EXACT [Orphanet:231450]
xref: GARD:20616 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:231450", source="Orphanet:231450/ntbt"}
xref: MEDGEN:1682724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231450 {source="MONDO:equivalentTo"}
xref: UMLS:C5190881 {source="MEDGEN:1682724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016218 {source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-4142-7153"} ! Guillain-Barre syndrome
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0016499
name: autoimmune autonomic ganglionopathy
def: "A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating." [Orphanet:231457]
subset: gard_rare {source="GARD:20617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231457"}
subset: orphanet_rare {source="Orphanet:231457"}
subset: rare
synonym: "AAG" EXACT ABBREVIATION [https://www.dysautonomiainternational.org/page.php?ID=124]
synonym: "acute panautonomic GBS" EXACT [Orphanet:231457]
synonym: "acute panautonomic Guillain-Barre syndrome" EXACT [Orphanet:231457]
synonym: "acute panautonomic Guillain-Barré syndrome" EXACT [Orphanet:231457]
synonym: "acute panautonomic neuropathy" EXACT [Orphanet:231457]
synonym: "acute pandysautonomia" EXACT [https://www.dysautonomiainternational.org/page.php?ID=124, Orphanet:231457]
synonym: "autoimmune autonomic neuropathy" EXACT [https://www.dysautonomiainternational.org/page.php?ID=124]
synonym: "idiopathic subacute autonomic neuropathy" EXACT [https://www.dysautonomiainternational.org/page.php?ID=124]
xref: GARD:20617 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:231457", source="Orphanet:231457/ntbt"}
xref: MEDGEN:746161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231457 {source="MONDO:equivalentTo"}
xref: SCTID:430042004 {source="MONDO:equivalentTo"}
xref: UMLS:C2315246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:746161"}
is_a: MONDO:0016218 {source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Guillain-Barre syndrome
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7203" xsd:anyURI

[Term]
id: MONDO:0016500
name: acute sensory ataxic neuropathy
def: "Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain." [Orphanet:231466]
subset: gard_rare {source="GARD:20618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231466"}
subset: orphanet_rare {source="Orphanet:231466"}
subset: rare
synonym: "acute sensory ataxic GBS" EXACT [Orphanet:231466]
synonym: "acute sensory ataxic Guillain-Barre syndrome" EXACT [Orphanet:231466]
synonym: "acute sensory ataxic Guillain-Barré syndrome" EXACT [Orphanet:231466]
synonym: "ASAN" EXACT ABBREVIATION [Orphanet:231466]
xref: GARD:20618 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:231466", source="Orphanet:231466/ntbt"}
xref: MEDGEN:1641312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231466 {source="MONDO:equivalentTo"}
xref: SCTID:766049000 {source="MONDO:equivalentTo"}
xref: UMLS:C4707661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641312"}
is_a: MONDO:0016218 {source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Guillain-Barre syndrome
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016501
name: Hermansky-Pudlak syndrome with pulmonary fibrosis
def: "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." [Orphanet:231500]
subset: gard_rare {source="GARD:17168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231500"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPS with pulmonary fibrosis" EXACT [Orphanet:231500]
xref: GARD:17168 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231500", source="Orphanet:231500/attributed", source="Orphanet:231500/ntbt"}
xref: MEDGEN:1843223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231500 {source="MONDO:equivalentTo"}
xref: UMLS:C5679834 {source="MONDO:equivalentTo", source="MEDGEN:1843223", source="MONDO:MEDGEN"}
is_a: MONDO:0017014 ! interstitial lung disease specific to childhood
is_a: MONDO:0019312 {source="Orphanet:231500"} ! Hermansky-Pudlak syndrome

[Term]
id: MONDO:0016502
name: Hermansky-Pudlak syndrome without pulmonary fibrosis
def: "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." [Orphanet:231512]
subset: gard_rare {source="GARD:17169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:231512"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPS without pulmonary fibrosis" EXACT [Orphanet:231512]
xref: GARD:17169 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231512", source="Orphanet:231512/attributed", source="Orphanet:231512/ntbt"}
xref: MEDGEN:1842321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231512 {source="MONDO:equivalentTo"}
xref: UMLS:C5679833 {source="MONDO:equivalentTo", source="MEDGEN:1842321", source="MONDO:MEDGEN"}
is_a: MONDO:0019312 {source="Orphanet:231512"} ! Hermansky-Pudlak syndrome

[Term]
id: MONDO:0016503
name: congenital erosive and vesicular dermatosis
subset: gard_rare {source="GARD:20619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231573"}
subset: orphanet_rare {source="Orphanet:231573"}
subset: rare
synonym: "CEVD" EXACT ABBREVIATION [Orphanet:231573]
synonym: "congenital erosive and vesicular dermatosis with reticulated supple scarring" EXACT [Orphanet:231573]
xref: GARD:20619 {source="MONDO:GARD"}
xref: icd11.foundation:2106762282 {source="Orphanet:231573", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1669240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231573 {source="MONDO:equivalentTo"}
xref: UMLS:C4751164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1669240"}
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016504
name: primary unilateral adrenal hyperplasia
def: "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." [Orphanet:231580]
subset: gard_rare {source="GARD:20620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231580"}
subset: orphanet_rare {source="Orphanet:231580"}
subset: rare
synonym: "PUAH" EXACT ABBREVIATION [Orphanet:231580]
xref: GARD:20620 {source="MONDO:GARD"}
xref: ICD10CM:E26.0 {source="Orphanet:231580/ntbt", source="Orphanet:231580"}
xref: MEDGEN:905007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231580 {source="MONDO:equivalentTo"}
xref: SCTID:715868005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905007"}
is_a: MONDO:0001422 {source="MONDO:0016507-obsoleted"} ! primary aldosteronism

[Term]
id: MONDO:0016505
name: aldosterone-producing adrenal cortex adenoma
def: "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness." [NCIT:C48451]
subset: gard_rare {source="GARD:20621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231625"}
subset: orphanet_rare {source="Orphanet:231625"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenocortical carcinoma with pure aldosterone hypersecretion" RELATED [Orphanet:231625]
synonym: "aldosterone producing adrenal cortex adenoma" EXACT [NCIT:C48451]
synonym: "aldosterone producing adrenal cortical adenoma" EXACT [NCIT:C48451]
synonym: "aldosterone-producing adrenal cortex adenoma" EXACT [NCIT:C48451]
synonym: "APAC" EXACT ABBREVIATION []
synonym: "Pure aldosterone-producing adrenocortical carcinoma" EXACT [Orphanet:231625]
synonym: "Pure aldosterone-secreting adrenocortical carcinoma" EXACT [Orphanet:231625]
synonym: "Pure APAC" EXACT [Orphanet:231625]
xref: EFO:1000015 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20621 {source="MONDO:GARD"}
xref: ICD10CM:C74.0 {source="Orphanet:231625", source="Orphanet:231625/ntbt"}
xref: ICD10CM:E26.0 {source="EFO:1000015"}
xref: MedDRA:10056950 {source="EFO:1000015"}
xref: MEDGEN:353374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018246 {source="EFO:1000015", source="MONDO:directSiblingOf"}
xref: NCIT:C48451 {source="MONDO:equivalentTo"}
xref: Orphanet:231625 {source="MONDO:equivalentTo"}
xref: UMLS:C1706762 {source="MEDGEN:353374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001422 {source="MONDO:0016507-obsoleted"} ! primary aldosteronism
is_a: MONDO:0003924 {source="NCIT:C48451"} ! adrenal cortex adenoma
is_a: MONDO:0004972 {source="EFO:1000015", source="NCIT:C48451/inferred"} ! adenoma

[Term]
id: MONDO:0016506
name: ectopic aldosterone-producing tumor
def: "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." [Orphanet:231632]
subset: gard_rare {source="GARD:20622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231632"}
subset: orphanet_rare {source="Orphanet:231632"}
subset: rare
synonym: "Extra-adrenal aldosterone-producing tumor" EXACT [Orphanet:231632]
synonym: "Extra-adrenal aldosterone-producing tumour" EXACT OMO:0003005 []
xref: GARD:20622 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="Orphanet:231632", source="Orphanet:231632/ntbt"}
xref: MEDGEN:1654612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231632 {source="MONDO:equivalentTo"}
xref: UMLS:C4755311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1654612"}
is_a: MONDO:0001422 {source="MONDO:0016508-obsoleted"} ! primary aldosteronism

[Term]
id: MONDO:0016507
name: obsolete rare surgically correctable form of primary aldosteronism
def: "OBSOLETE. Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia." [Orphanet:231637]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:231637"}
xref: GARD:20623 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:231637 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016508
name: obsolete rare non surgically correctable form of primary aldosteronism
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:231641"}
xref: GARD:20624 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:231641 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016509
name: microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
subset: gard_rare {source="GARD:10938", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:231736"}
subset: ordo_malformation_syndrome {source="Orphanet:231736"}
subset: orphanet_rare {source="Orphanet:231736"}
subset: rare
synonym: "microcornea posterior megalolenticonus persistent fetal vasculature coloboma" RELATED [GARD:0010938]
synonym: "microcornea posterior megalolenticonus persistent foetal vasculature coloboma" RELATED OMO:0003005 []
synonym: "MPPC syndrome" EXACT [Orphanet:231736]
xref: GARD:10938 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:231736/ntbt", source="Orphanet:231736"}
xref: MEDGEN:1667341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231736 {source="MONDO:equivalentTo"}
xref: UMLS:C4751163 {source="MEDGEN:1667341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0016510
name: epibulbar lipodermoid-preauricular appendage-polythelia syndrome
def: "Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." [Orphanet:231742]
subset: gard_rare {source="GARD:20625", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:231742"}
subset: ordo_malformation_syndrome {source="Orphanet:231742"}
subset: orphanet_rare {source="Orphanet:231742"}
subset: rare
xref: GARD:20625 {source="MONDO:GARD"}
xref: MEDGEN:1808551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:231742 {source="MONDO:equivalentTo"}
xref: UMLS:C5680927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808551"}
is_a: MONDO:0021147 {source="Orphanet:231742", source="Orphanet:231742/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0016511
name: infectious embryofetopathy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:232035"}
xref: MEDGEN:1736309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:232035 {source="MONDO:equivalentTo"}
xref: UMLS:C5439342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1736309"}
is_a: MONDO:0005550 {source="Orphanet:232035"} ! infectious disease
is_a: MONDO:0019755 {source="MONDO:0018880-obsoleted"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019062"} ! rare

[Term]
id: MONDO:0016512
name: Kabuki syndrome
def: "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." [Orphanet:2322]
subset: gard_rare {source="GARD:6810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1318"}
subset: ordo_disorder {source="Orphanet:2322"}
subset: ordo_malformation_syndrome {source="Orphanet:2322"}
subset: orphanet_rare {source="Orphanet:2322"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kabuki make up syndrome" EXACT [DOID:0060473]
synonym: "Kabuki make-up syndrome" EXACT [Orphanet:2322]
synonym: "KMS" EXACT ABBREVIATION [DOID:0060473]
synonym: "Niikawa-Kuroki syndrome" EXACT [DOID:0060473, Orphanet:2322]
synonym: "NKS" RELATED ABBREVIATION [GARD:0006810]
xref: DOID:0060473 {source="MONDO:equivalentTo"}
xref: GARD:6810 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2322", source="Orphanet:2322/attributed", source="Orphanet:2322/ntbt"}
xref: MedDRA:10063935 {source="Orphanet:2322", source="Orphanet:2322/e"}
xref: MEDGEN:162897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537705 {source="DOID:0060473", source="Orphanet:2322", source="MONDO:equivalentTo", source="Orphanet:2322/e"}
xref: NANDO:1200672 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200956 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C124837 {source="MONDO:equivalentTo"}
xref: NORD:1318 {source="MONDO:NORD"}
xref: OMIMPS:147920 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2322 {source="DOID:0060473", source="MONDO:equivalentTo"}
xref: SCTID:205805008 {source="DOID:0060473"}
xref: SCTID:313426007 {source="DOID:0060473", source="MONDO:equivalentTo"}
xref: UMLS:C0796004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162897"}
is_a: MONDO:0002254 {source="DOID:0060473", source="MONDO:Redundant", source="NCIT:C124837"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2322"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2322", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015216 {source="Orphanet:2322", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic diaphragmatic or abdominal wall malformation
relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:2322", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation
relationship: excluded_subClassOf MONDO:0020159 {source="Orphanet:2322", source="https://orcid.org/0000-0001-5208-3432"} ! congenital entropion
relationship: excluded_subClassOf MONDO:0020161 {source="Orphanet:2322", source="https://orcid.org/0000-0001-5208-3432"} ! congenital ectropion
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:147920"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016513
name: obsolete alpha-thalassemia-related diseases
def: "OBSOLETE. This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*" [Orphanet:232288]
subset: ordo_group_of_disorders {source="Orphanet:232288"}
xref: GARD:20627 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D56.0 {source="Orphanet:232288", source="Orphanet:232288/attributed", source="Orphanet:232288/ntbt", source="MONDO:directSiblingOf"}
xref: Orphanet:232288 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016514
name: epidermolysis bullosa simplex with anodontia/hypodontia
subset: gard_rare {source="GARD:18766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2325"}
subset: ordo_malformation_syndrome {source="Orphanet:2325"}
subset: orphanet_rare {source="Orphanet:2325"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gamborg-Nielsen syndrome" EXACT [Orphanet:2325]
synonym: "Kallin syndrome" EXACT [Orphanet:2325]
xref: GARD:18766 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:2325", source="Orphanet:2325/attributed", source="Orphanet:2325/ntbt"}
xref: MEDGEN:609450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2325 {source="MONDO:equivalentTo"}
xref: UMLS:C0432313 {source="MEDGEN:609450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="Orphanet:2325"} ! epidermolysis bullosa simplex

[Term]
id: MONDO:0016515
name: Kallmann syndrome-heart disease syndrome
def: "Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." [Orphanet:2326]
subset: gard_rare {source="GARD:18767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2326"}
subset: ordo_malformation_syndrome {source="Orphanet:2326"}
subset: orphanet_rare {source="Orphanet:2326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18767 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:2326", source="Orphanet:2326/attributed", source="Orphanet:2326/ntbt"}
xref: MEDGEN:928566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2326 {source="MONDO:equivalentTo"}
xref: UMLS:C4302897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928566"}
is_a: MONDO:0015160 {source="Orphanet:2326"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:2326", source="Orphanet:2326/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0016516
name: Kenny-Caffey syndrome
def: "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." [NCIT:C130991]
subset: gard_rare {source="GARD:16594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1325"}
subset: ordo_disorder {source="Orphanet:2333"}
subset: ordo_malformation_syndrome {source="Orphanet:2333"}
subset: orphanet_rare {source="Orphanet:2333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kenny syndrome" EXACT [Orphanet:2333]
xref: DOID:0080724 {source="MONDO:equivalentTo"}
xref: GARD:16594 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2333", source="Orphanet:2333/attributed", source="Orphanet:2333/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537020 {source="Orphanet:2333", source="MONDO:equivalentTo", source="Orphanet:2333/e"}
xref: NCIT:C130991 {source="MONDO:equivalentTo"}
xref: NORD:1325 {source="MONDO:NORD"}
xref: OMIMPS:127000 {source="MONDO:equivalentTo"}
xref: Orphanet:2333 {source="MONDO:equivalentTo"}
xref: SCTID:82837002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75560"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130991"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0800063 {source="https://orcid.org/0000-0001-8612-1062"} ! primordial dwarfism and slender bone disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:127000"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016517
name: obsolete rare genetic vascular disease
def: "OBSOLETE. Rare genetic vascular disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:233655"}
synonym: "rare genetic vascular disease" EXACT []
xref: GARD:20628 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:233655 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005385

[Term]
id: MONDO:0016518
name: obsolete isolated punctate palmoplantar keratoderma
def: "OBSOLETE. A punctate palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:2338"}
synonym: "isolated punctate palmoplantar hyperkeratosis" EXACT [Orphanet:2338]
synonym: "isolated punctate PPK" EXACT [Orphanet:2338]
synonym: "nonsyndromic punctate palmoplantar keratoderma" EXACT [MONDO:patterns/isolated]
xref: GARD:18768 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:2338", source="Orphanet:2338/attributed", source="Orphanet:2338/ntbt"}
xref: Orphanet:2338 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016519
name: obsolete keratosis follicularis spinulosa decalvans
is_obsolete: true
replaced_by: MONDO:0000136

[Term]
id: MONDO:0016520
name: obsolete isolated Klippel-Feil syndrome
def: "OBSOLETE. Klippel-Feil Syndrome is characterized by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae." [Orphanet:2345]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital cervical vertebral fusion" EXACT [Orphanet:2345]
synonym: "congenital fused cervical segments" EXACT [Orphanet:2345]
synonym: "Klippel-Feil malformation" EXACT [Orphanet:2345]
synonym: "Klippel-Feil sequence" EXACT [Orphanet:2345]
synonym: "nonsyndromic Klippel-Feil syndrome" EXACT [MONDO:patterns/isolated]
xref: GARD:10280 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q76.1 {source="Orphanet:2345", source="Orphanet:2345/specific", source="Orphanet:2345/e"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016521
name: muscular pseudohypertrophy-hypothyroidism syndrome
def: "Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism." [Orphanet:2349]
subset: gard_rare {source="GARD:8270", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2349"}
subset: orphanet_rare {source="Orphanet:2349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hoffman syndrome" RELATED [Orphanet:2349]
synonym: "Kocher-Debre-Semelaigne syndrome" EXACT [Orphanet:2349]
synonym: "Kocher-Debré-Semelaigne syndrome" EXACT [Orphanet:2349]
xref: GARD:8270 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:2349", source="Orphanet:2349/attributed", source="Orphanet:2349/ntbt"}
xref: MEDGEN:82860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2349 {source="MONDO:equivalentTo"}
xref: SCTID:716338001 {source="MONDO:equivalentTo"}
xref: UMLS:C0270958 {source="MEDGEN:82860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="PMID:22802324", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016522
name: Kousseff syndrome
def: "A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11." [https://orcid.org/0000-0001-5208-3432, Orphanet:2351]
subset: gard_rare {source="GARD:4752", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2351"}
subset: ordo_malformation_syndrome {source="Orphanet:2351"}
subset: orphanet_rare {source="Orphanet:2351"}
subset: rare
synonym: "sacral meningocele conotruncal heart defects" RELATED [GARD:0004752]
synonym: "sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck" RELATED [GARD:0004752]
synonym: "sacral meningocele-conotruncal heart defects syndrome" EXACT [Orphanet:2351]
xref: GARD:4752 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2351/ntbt", source="Orphanet:2351"}
xref: MEDGEN:444057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537223 {source="MONDO:equivalentTo"}
xref: Orphanet:2351 {source="MONDO:equivalentTo"}
xref: SCTID:726083008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931444 {source="MEDGEN:444057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0016523
name: bronchogenic cyst
def: "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum." [Orphanet:2357]
subset: gard_rare {source="GARD:1025", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2357"}
subset: ordo_morphological_anomaly {source="Orphanet:2357"}
subset: orphanet_rare {source="Orphanet:2357"}
subset: rare
synonym: "bronchogenic cyst" EXACT [MONDO:ambiguous]
synonym: "bronchogenic cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:1025 {source="MONDO:GARD"}
xref: HP:0100730 {source="MONDO:otherHierarchy"}
xref: ICD10CM:J98.4 {source="Orphanet:2357/ntbt", source="Orphanet:2357"}
xref: MedDRA:10064585 {source="Orphanet:2357", source="Orphanet:2357/e"}
xref: MEDGEN:668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001994 {source="Orphanet:2357", source="MONDO:equivalentTo", source="Orphanet:2357/e"}
xref: Orphanet:2357 {source="MONDO:equivalentTo"}
xref: UMLS:C0006281 {source="MEDGEN:668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "bronchogenic cyst (disease)" xsd:string

[Term]
id: MONDO:0016524
name: obsolete congenital vascular bone syndrome
def: "OBSOLETE. An alteration in limb growth caused by congenital vascular malformations in childhood." [PMID:8305978]
subset: ordo_group_of_disorders {source="Orphanet:235832"}
xref: GARD:20629 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:825559961 {source="MONDO:obsoleteEquivalent", source="Orphanet:235832", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:235832 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016525
name: familial hyperaldosteronism
def: "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." [Orphanet:235936]
subset: disease_grouping
subset: gard_rare {source="GARD:20630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:371861", source="Orphanet:235936"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FH" EXACT ABBREVIATION [Orphanet:235936]
synonym: "genetic hyperaldosteronism" EXACT [MONDO:0018300, MONDO:patterns/genetic]
synonym: "hereditary hyperaldosteronism" EXACT [MONDO:patterns/hereditary]
xref: GARD:20630 {source="MONDO:GARD"}
xref: ICD10CM:E26.0 {source="MONDO:relatedTo", source="Orphanet:371861", source="Orphanet:235936/attributed", source="Orphanet:235936/ntbt", source="Orphanet:235936", source="Orphanet:371861/attributed", source="Orphanet:371861/ntbt"}
xref: MEDGEN:780028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580087 {source="MONDO:equivalentTo"}
xref: NANDO:2200602 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C127160 {source="MONDO:equivalentTo"}
xref: OMIMPS:103900 {source="MONDO:equivalentTo"}
xref: Orphanet:235936 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:371861 {source="MONDO:equivalentTo"}
xref: SCTID:703231005 {source="MONDO:equivalentTo"}
xref: UMLS:C3713420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:780028"}
is_a: MONDO:0001422 {source="MONDO:0016508-obsoleted"} ! primary aldosteronism
is_a: MONDO:0003009 {source="MONDO:Redundant", source="Orphanet:371861"} ! hyperaldosteronism
is_a: MONDO:0005495 {source="Orphanet:371861"} ! adrenal gland disorder
intersection_of: MONDO:0003009 ! hyperaldosteronism
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:103900"} ! inherited

[Term]
id: MONDO:0016526
name: trisomy 9p
def: "Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations." [Orphanet:236]
subset: disease_grouping
subset: gard_rare {source="GARD:18683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:236"}
subset: ordo_group_of_disorders {source="Orphanet:262767"}
subset: ordo_malformation_syndrome {source="Orphanet:236"}
subset: orphanet_rare {source="Orphanet:236"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "9p duplication" EXACT [GARD:0005364]
synonym: "9p trisomy" EXACT [GARD:0005364]
synonym: "chromosome 9p duplication" EXACT [GARD:0005364]
synonym: "Duplication 9p" EXACT [GARD:0005364, Orphanet:236]
synonym: "Duplication of the short arm of chromosome 9" EXACT [Orphanet:236]
synonym: "partial duplication of chromosome 9p" EXACT [Orphanet:262767]
synonym: "partial duplication of the short arm of chromosome 9" EXACT [Orphanet:262767]
synonym: "partial trisomy 9p" EXACT [GARD:0005364]
synonym: "partial trisomy of chromosome 9p" EXACT [Orphanet:262767]
synonym: "partial trisomy of the short arm of chromosome 9" EXACT [MONDO:0016946]
synonym: "partial trisomy of the short arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262767]
synonym: "trisomy of the short arm of chromosome 9" EXACT [Orphanet:236]
synonym: "trisomy type 9p" EXACT [MONDORULE:4, Orphanet:236]
xref: GARD:18683 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:236", source="Orphanet:236/attributed", source="Orphanet:236/ntbt"}
xref: icd11.foundation:1126301219 {source="Orphanet:236", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:120539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:236 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:262767 {source="MONDO:equivalentTo"}
xref: UMLS:C0265428 {source="MEDGEN:120539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016930 {source="Orphanet:262767"} ! partial trisomy/tetrasomy of chromosome 9
is_a: MONDO:0700043 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
relationship: disease_arises_from_structure CHR:9606-chr9p {source="https://orcid.org/0000-0002-4142-7153"} ! 9p (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:236", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4278" xsd:anyURI

[Term]
id: MONDO:0016527
name: glycogen storage disease due to lactate dehydrogenase deficiency
subset: gard_rare {source="GARD:3159", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2364"}
subset: orphanet_rare {source="Orphanet:2364"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycogenosis due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364]
synonym: "GSD due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364]
synonym: "lactate dehydrogenase deficiency" RELATED [GARD:0003159]
synonym: "LDH deficiency" EXACT [Orphanet:2364]
xref: GARD:3159 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:2364", source="Orphanet:2364/attributed", source="Orphanet:2364/ntbt"}
xref: MEDGEN:1805539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580233 {source="MONDO:equivalentTo"}
xref: Orphanet:2364 {source="MONDO:equivalentTo"}
xref: UMLS:C5575057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805539"}
is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:2364"} ! disorder of glycogen metabolism
intersection_of: MONDO:0002412 ! disorder of glycogen metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0004457 ! lactate dehydrogenase activity

[Term]
id: MONDO:0016528
name: limb body wall complex
def: "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts." [Orphanet:2369]
subset: gard_rare {source="GARD:3251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2369"}
subset: ordo_malformation_syndrome {source="Orphanet:2369"}
subset: orphanet_rare {source="Orphanet:2369"}
subset: rare
synonym: "aplasia of the cord" RELATED [GARD:0003251]
synonym: "body stalk anomaly" RELATED [GARD:0003251]
synonym: "Cyllosomas" RELATED [GARD:0003251]
synonym: "LBWC syndrome" EXACT [Orphanet:2369]
synonym: "limb-body wall complex" RELATED [GARD:0003251]
synonym: "short umbilical cord syndrome" RELATED [GARD:0003251]
synonym: "umbilical cord, short" RELATED [GARD:0003251]
xref: GARD:3251 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2369", source="Orphanet:2369/ntbt"}
xref: MEDGEN:906212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2369 {source="MONDO:equivalentTo"}
xref: SCTID:716106000 {source="MONDO:equivalentTo"}
xref: UMLS:C4274839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906212"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex" xsd:anyURI {source="GARD:0003251"}

[Term]
id: MONDO:0016529
name: duplication of urethra
def: "Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating." [Orphanet:237]
subset: gard_rare {source="GARD:1975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:237"}
subset: ordo_morphological_anomaly {source="Orphanet:237"}
subset: orphanet_rare {source="Orphanet:237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "urethral duplication" RELATED [GARD:0001975]
xref: GARD:1975 {source="MONDO:GARD"}
xref: ICD10CM:Q64.7 {source="Orphanet:237/ntbt", source="Orphanet:237", source="Orphanet:237/inclusion"}
xref: icd11.foundation:2069509755 {source="Orphanet:237", source="MONDO:equivalentTo"}
xref: ICD9:753.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:237 {source="MONDO:equivalentTo"}
xref: SCTID:69015003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75609"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:237", source="Orphanet:237/inferred"} ! kidney disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:237", source="Orphanet:237/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra" xsd:anyURI {source="GARD:0001975"}

[Term]
id: MONDO:0016530
name: laryngocele
def: "A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck." [NCIT:C97062]
subset: gard_rare {source="GARD:3191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2372"}
subset: ordo_malformation_syndrome {source="Orphanet:2372"}
subset: orphanet_rare {source="Orphanet:2372"}
subset: rare
xref: GARD:3191 {source="MONDO:GARD"}
xref: ICD10CM:Q31.3 {source="Orphanet:2372/e", source="MONDO:equivalentTo", source="Orphanet:2372"}
xref: icd11.foundation:360056769 {source="MONDO:equivalentTo", source="Orphanet:2372"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10023885 {source="Orphanet:2372/e", source="Orphanet:2372"}
xref: MEDGEN:452345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059608 {source="MONDO:equivalentTo"}
xref: NCIT:C97062 {source="MONDO:equivalentTo"}
xref: Orphanet:2372 {source="MONDO:equivalentTo"}
xref: SCTID:51523009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452345"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3191/laryngocele" xsd:anyURI {source="GARD:0003191"}

[Term]
id: MONDO:0016531
name: digestive duplication
subset: gard_rare {source="GARD:18684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_morphological_anomaly {source="Orphanet:238"}
subset: rare
xref: GARD:18684 {source="MONDO:GARD"}
xref: ICD10CM:Q45.8 {source="Orphanet:238/inclusion", source="Orphanet:238", source="Orphanet:238/ntbt"}
xref: MEDGEN:451018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238 {source="MONDO:equivalentTo"}
xref: UMLS:C0266019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:451018"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0002-4142-7153"} ! digestive system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016532
name: Lennox-Gastaut syndrome
def: "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." [Orphanet:2382]
subset: gard_rare {source="GARD:9912", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1358"}
subset: ordo_disorder {source="Orphanet:2382"}
subset: orphanet_rare {source="Orphanet:2382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy of childhood" RELATED [GARD:0009912]
synonym: "epileptic encephalopathy Lennox-Gastaut type" RELATED [GARD:0009912]
synonym: "Lennox syndrome" EXACT [DOID:0050561]
synonym: "LGS" EXACT ABBREVIATION [NCIT:C84816]
synonym: "macrocephaly and epileptic encephalopathy" RELATED [OMIM:606369]
xref: DOID:0050561 {source="MONDO:equivalentTo"}
xref: GARD:9912 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:2382/ntbt", source="Orphanet:2382/inclusion", source="Orphanet:2382"}
xref: icd11.foundation:651135242 {source="MONDO:equivalentTo", source="Orphanet:2382"}
xref: MedDRA:10048816 {source="Orphanet:2382/e", source="Orphanet:2382"}
xref: MEDGEN:116044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535500 {source="Orphanet:2382/e", source="Orphanet:2382"}
xref: MESH:D065768 {source="MONDO:equivalentTo"}
xref: NANDO:1200591 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200879 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84816 {source="MONDO:equivalentTo"}
xref: NORD:1358 {source="MONDO:NORD"}
xref: OMIM:606369 {source="DOID:0050561", source="MONDO:equivalentTo"}
xref: Orphanet:2382 {source="MONDO:equivalentTo"}
xref: SCTID:230418006 {source="MONDO:equivalentTo"}
xref: UMLS:C0238111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116044"}
is_a: MONDO:0000414 {source="DOID:0050561"} ! childhood electroclinical syndrome
is_a: MONDO:0002254 {source="NCIT:C84816"} ! syndromic disease
is_a: MONDO:0020072 {source="Orphanet:2382", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
is_a: MONDO:0100062 {source="MONDO:0100062", source="https://orcid.org/0000-0001-9221-4222"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5350" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome" xsd:anyURI {source="GARD:0009912"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/lgs-overview.html" xsd:anyURI

[Term]
id: MONDO:0016533
name: apolipoprotein A-II amyloidosis
subset: gard_rare {source="GARD:20631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:238269"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AApoAII amyloidosis" EXACT [Orphanet:238269]
synonym: "familial amyloid nephropathy due to apolipoprotein A-II variant" EXACT [Orphanet:238269]
synonym: "familial renal amyloidosis due to apolipoprotein A-II variant" EXACT [Orphanet:238269]
synonym: "hereditary amyloid nephropathy due to apolipoprotein A-II variant" EXACT [Orphanet:238269]
synonym: "hereditary renal amyloidosis due to apolipoprotein A-II variant" EXACT [Orphanet:238269]
xref: GARD:20631 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:238269", source="Orphanet:238269/attributed", source="Orphanet:238269/ntbt"}
xref: MEDGEN:1842484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238269 {source="MONDO:equivalentTo"}
xref: UMLS:C5679845 {source="MEDGEN:1842484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007099 {source="Orphanet:238269"} ! familial visceral amyloidosis

[Term]
id: MONDO:0016534
name: infundibulo-neurohypophysitis
subset: gard_rare {source="GARD:20632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238305"}
subset: orphanet_rare {source="Orphanet:238305"}
subset: rare
xref: GARD:20632 {source="MONDO:GARD"}
xref: ICD10CM:E23.6 {source="Orphanet:238305", source="Orphanet:238305/ntbt"}
xref: MEDGEN:1683829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238305 {source="MONDO:equivalentTo"}
xref: UMLS:C5190834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683829"}
is_a: MONDO:0019835 {source="Orphanet:238305"} ! primary hypophysitis

[Term]
id: MONDO:0016535
name: hypohidrotic ectodermal dysplasia
def: "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)." [Orphanet:238468]
comment: DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic
subset: gard_rare {source="GARD:76", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1272", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238468"}
subset: orphanet_rare {source="Orphanet:238468"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anhidrotic ectodermal dysplasia" EXACT [GARD:0000076, Orphanet:238468]
synonym: "anhidrotic ectodermal dysplasia 1" EXACT [NCIT:C84562]
synonym: "anhidrotic ectodermal dysplasia 3" EXACT [DOID:14793]
synonym: "Christ-Siemens-Touraine syndrome" RELATED EXCLUDE [DOID:14793]
synonym: "CST syndrome" RELATED [GARD:0000076]
synonym: "ectodermal dysplasia 1, Anhydrotic" EXACT [DOID:14793]
synonym: "ectodermal dysplasia anhidrotic" RELATED [GARD:0000076]
synonym: "ectodermal dysplasia, hypohidrotic" RELATED [GARD:0000076]
synonym: "EDA" RELATED ABBREVIATION [GARD:0000076]
synonym: "HED" EXACT ABBREVIATION [GARD:0000076, Orphanet:238468]
synonym: "hypohidrotic X-linked ectodermal dysplasia" EXACT [DOID:14793]
xref: DOID:14793 {source="MONDO:equivalentTo"}
xref: GARD:76 {source="MONDO:GARD"}
xref: HP:0007607 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q82.4 {source="Orphanet:238468", source="Orphanet:238468/e", source="Orphanet:238468/specific"}
xref: icd11.foundation:673167184 {source="Orphanet:238468", source="MONDO:equivalentTo"}
xref: MEDGEN:590621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053358 {source="DOID:14793"}
xref: NANDO:2201005 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84562 {source="MONDO:equivalentTo", source="DOID:14793"}
xref: NORD:1272 {source="MONDO:NORD"}
xref: Orphanet:238468 {source="MONDO:equivalentTo"}
xref: SCTID:239007005 {source="DOID:14793"}
xref: SCTID:4826006 {source="DOID:14793"}
xref: SCTID:7731005 {source="DOID:14793", source="MONDO:directSiblingOf"}
xref: UMLS:C0406701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590621"}
is_a: MONDO:0019287 {source="Orphanet:238468"} ! ectodermal dysplasia syndrome
relationship: disease_has_basis_in_disruption_of GO:0007499 {source="https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia#genes"} ! ectoderm and mesoderm interaction
relationship: disease_has_basis_in_disruption_of GO:0071696 ! ectodermal placode development
relationship: disease_has_feature HP:0000966 ! Hypohidrosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4104" xsd:anyURI

[Term]
id: MONDO:0016536
name: obsolete autosomal recessive lymphoproliferative disease
def: "OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." [Orphanet:238505]
subset: ordo_disorder {source="Orphanet:238505"}
subset: otar {source="MONDO:OTAR"}
synonym: "CD27 deficiency" EXACT [Orphanet:238505]
xref: GARD:17174 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D47.9 {source="Orphanet:238505/attributed", source="Orphanet:238505/ntbt", source="Orphanet:238505"}
xref: NANDO:2200735 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:238505 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:238505", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016537
name: lymphoproliferative syndrome
def: "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)." [NCIT:C9308]
subset: disease_grouping
subset: gard_rare {source="GARD:20633", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoproliferative disorder" EXACT [NCIT:C9308]
synonym: "lymphoproliferative syndrome" EXACT [DOID:0060704, OMIMPS:308240]
xref: DOID:0060704 {source="MONDO:equivalentTo"}
xref: GARD:20633 {source="MONDO:GARD"}
xref: MEDGEN:6162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008232 {source="MONDO:equivalentTo"}
xref: NCIT:C9308 {source="MONDO:equivalentTo"}
xref: OMIMPS:308240 {source="MONDO:equivalentTo", source="DOID:0060704"}
xref: Orphanet:238510 {source="MONDO:equivalentTo"}
xref: SCTID:277466009 {source="MONDO:equivalentTo"}
xref: UMLS:C0024314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6162"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:238510", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:308240"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6116" xsd:anyURI

[Term]
id: MONDO:0016538
name: obsolete hypotonia-cystinuria syndrome type 1
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3782" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011669

[Term]
id: MONDO:0016539
name: atypical hypotonia-cystinuria syndrome
def: "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)." [Orphanet:238523]
subset: gard_rare {source="GARD:17175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238523"}
subset: orphanet_rare {source="Orphanet:238523"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical HCS" EXACT [Orphanet:238523]
xref: GARD:17175 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:238523", source="Orphanet:238523/attributed", source="Orphanet:238523/ntbt"}
xref: MEDGEN:1668791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238523 {source="MONDO:equivalentTo"}
xref: UMLS:C4755274 {source="MEDGEN:1668791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011669 {source="Orphanet:238523"} ! hypotonia-cystinuria syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0016540
name: congenital secondary polycythemia
subset: disease_grouping
subset: gard_rare {source="GARD:20635", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:238536"}
subset: rare
synonym: "congenital secondary erythrocytosis" EXACT [Orphanet:238536]
xref: GARD:20635 {source="MONDO:GARD"}
xref: ICD10CM:D75.1 {source="Orphanet:238536", source="Orphanet:238536/attributed", source="Orphanet:238536/ntbt"}
xref: MEDGEN:1843354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238536 {source="MONDO:equivalentTo"}
xref: UMLS:C5679848 {source="MEDGEN:1843354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020115 {source="Orphanet:238536"} ! secondary polycythemia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016541
name: acquired secondary polycythemia
def: "An instance of secondary polycythemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: gard_rare {source="GARD:20636", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:238547"}
subset: rare
synonym: "acquired secondary erythrocytosis" EXACT [Orphanet:238547]
synonym: "acquired secondary polycythemia" EXACT [MONDO:patterns/acquired]
xref: GARD:20636 {source="MONDO:GARD"}
xref: ICD10CM:D75.1 {source="Orphanet:238547", source="Orphanet:238547/ntbt"}
xref: Orphanet:238547 {source="MONDO:equivalentTo"}
is_a: MONDO:0020115 {source="MONDO:Redundant", source="Orphanet:238547"} ! secondary polycythemia
intersection_of: MONDO:0020115 ! secondary polycythemia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0016542
name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
def: "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma." [Orphanet:238569]
subset: gard_rare {source="GARD:13016", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238569"}
subset: orphanet_rare {source="Orphanet:238569"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive early-onset IBD" RELATED [GARD:0013016]
synonym: "autosomal recessive early-onset inflammatory bowel disease" RELATED [GARD:0013016]
synonym: "IL10-related early-onset IBD" EXACT [Orphanet:238569]
synonym: "IL10-related early-onset inflammatory bowel disease" EXACT [Orphanet:238569]
xref: GARD:13016 {source="MONDO:GARD"}
xref: ICD10CM:K52.8 {source="Orphanet:238569", source="Orphanet:238569/attributed", source="Orphanet:238569/ntbt"}
xref: MEDGEN:1661450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200446 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:238569 {source="MONDO:equivalentTo"}
xref: UMLS:C4749850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1661450"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:238569"} ! intestinal disorder
is_a: MONDO:0005265 {source="Orphanet:238569"} ! inflammatory bowel disease
is_a: MONDO:0005554 {source="Orphanet:238569"} ! rheumatic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015187", source="MONDO:0015616", source="MONDO:0015940"} ! rare

[Term]
id: MONDO:0016543
name: hyperphenylalaninemia due to tetrahydrobiopterin deficiency
def: "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine." [Orphanet:238583]
subset: gard_rare {source="GARD:7751", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238583"}
subset: orphanet_rare {source="Orphanet:238583"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperphenylalaninemia" BROAD [Orphanet:238583]
synonym: "hyperphenylalaninemia due to BH4 deficiency" EXACT [Orphanet:238583]
synonym: "hyperphenylalaninemia due to tetrahydrobiopterin deficiency" EXACT [Orphanet:238583]
synonym: "non-phenylketonuric hyperphenylalaninemia" EXACT [Orphanet:238583]
xref: GARD:7751 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:238583", source="Orphanet:238583/attributed", source="Orphanet:238583/ntbt"}
xref: MEDGEN:199656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200786 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200594 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201076 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:238583 {source="MONDO:equivalentTo"}
xref: SCTID:68528007 {source="MONDO:equivalentTo"}
xref: UMLS:C0751436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199656"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230"} ! metabolic disease
is_a: MONDO:0037871 {source="https://orcid.org/0000-0001-5208-3432"} ! amino acid metabolism disease
relationship: disease_shares_features_of MONDO:0009861 ! phenylketonuria
relationship: has_characteristic HP:0000007 {source="Orphanet:238583"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI

[Term]
id: MONDO:0016544
name: IgG4-related mesenteritis
def: "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate)." [Orphanet:238593]
subset: gard_rare {source="GARD:8169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:238593"}
subset: rare
synonym: "isolated mesenteric lipodystrophy" EXACT [Orphanet:238593]
synonym: "lipomatous mesenteritis" EXACT [Orphanet:238593]
synonym: "liposclerotic mesenteritis" EXACT [Orphanet:238593]
synonym: "mesenteric lipogranuloma" EXACT [Orphanet:238593]
synonym: "Mesenteric Panniculitis" EXACT [NORD:1699]
synonym: "mesenteric panniculitis" EXACT [Orphanet:238593]
synonym: "sclerosing mesenteritis" EXACT [Orphanet:238593]
xref: GARD:8169 {source="MONDO:GARD"}
xref: ICD10CM:K65.8 {source="Orphanet:238593/ntbt", source="Orphanet:238593"}
xref: MEDGEN:75639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238593 {source="MONDO:equivalentTo"}
xref: SCTID:1092381000119100 {source="MONDO:equivalentTo"}
xref: UMLS:C0267770 {source="MEDGEN:75639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017287 {source="Orphanet:238593"} ! IgG4-related disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare

[Term]
id: MONDO:0016545
name: leukoencephalopathy-palmoplantar keratoderma syndrome
def: "Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration." [Orphanet:2386]
subset: gard_rare {source="GARD:3232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2386"}
subset: orphanet_rare {source="Orphanet:2386"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukoencephalopathy palmoplantar keratoderma" RELATED [GARD:0003232]
xref: GARD:3232 {source="MONDO:GARD"}
xref: MEDGEN:1652044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2386 {source="MONDO:equivalentTo", source="GARD:0003232"}
xref: UMLS:C4749769 {source="MEDGEN:1652044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="https://github.com/monarch-initiative/mondo/pull/2317"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="Orphanet:2386"} ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma" xsd:anyURI {source="GARD:0003232"}

[Term]
id: MONDO:0016546
name: primary orthostatic tremor
def: "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing." [Orphanet:238606]
subset: gard_rare {source="GARD:8563", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1612"}
subset: ordo_disorder {source="Orphanet:238606"}
subset: orphanet_rare {source="Orphanet:238606"}
subset: rare
synonym: "orthostatic tremor, primary" RELATED [GARD:0008563]
synonym: "OT" RELATED ABBREVIATION [GARD:0008563]
synonym: "pot" EXACT [Orphanet:238606]
synonym: "shaky leg syndrome" RELATED [GARD:0008563]
xref: GARD:8563 {source="MONDO:GARD"}
xref: ICD10CM:G25.2 {source="Orphanet:238606", source="Orphanet:238606/ntbt"}
xref: MEDGEN:164206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536418 {source="MONDO:equivalentTo", source="Orphanet:238606", source="Orphanet:238606/e"}
xref: NORD:1612 {source="MONDO:NORD"}
xref: Orphanet:238606 {source="MONDO:equivalentTo"}
xref: SCTID:715902009 {source="MONDO:equivalentTo"}
xref: UMLS:C0878578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164206"}
is_a: MONDO:0005395 {source="Orphanet:238606"} ! movement disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017644"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor" xsd:anyURI {source="GARD:0008563"}

[Term]
id: MONDO:0016547
name: Beckwith-Wiedemann syndrome due to NSD1 mutation
subset: gard_rare {source="GARD:17178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:238613"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:238613"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17178 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:238613", source="Orphanet:238613/attributed", source="Orphanet:238613/ntbt"}
xref: MEDGEN:1825953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238613 {source="MONDO:equivalentTo"}
xref: UMLS:C5680933 {source="MONDO:equivalentTo", source="MEDGEN:1825953", source="MONDO:MEDGEN"}
is_a: MONDO:0007534 {source="Orphanet:238613"} ! Beckwith-Wiedemann syndrome

[Term]
id: MONDO:0016548
name: megacystis-megaureter syndrome
def: "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." [Orphanet:238637]
subset: gard_rare {source="GARD:20638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238637"}
subset: orphanet_rare {source="Orphanet:238637"}
subset: rare
synonym: "megaureter-megacystis syndrome" EXACT [Orphanet:238637]
xref: GARD:20638 {source="MONDO:GARD"}
xref: ICD10CM:Q62.7 {source="Orphanet:238637/ntbt", source="Orphanet:238637"}
xref: icd11.foundation:1872503107 {source="Orphanet:238637", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:609133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238637 {source="MONDO:equivalentTo"}
xref: SCTID:253904001 {source="MONDO:equivalentTo"}
xref: UMLS:C0431752 {source="MEDGEN:609133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder

[Term]
id: MONDO:0016549
name: primary megaureter, adult-onset form
subset: gard_rare {source="GARD:20639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:238642"}
subset: rare
xref: GARD:20639 {source="MONDO:GARD"}
xref: ICD10CM:Q62.2 {source="Orphanet:238642/attributed", source="Orphanet:238642/ntbt", source="Orphanet:238642"}
xref: MEDGEN:1842492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238642 {source="MONDO:equivalentTo"}
xref: UMLS:C5680937 {source="MEDGEN:1842492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018960 {source="Orphanet:238642"} ! congenital primary megaureter

[Term]
id: MONDO:0016550
name: congenital primary megaureter, obstructed form
subset: gard_rare {source="GARD:20640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:238646"}
subset: rare
xref: GARD:20640 {source="MONDO:GARD"}
xref: ICD10CM:Q62.2 {source="Orphanet:238646", source="Orphanet:238646/attributed", source="Orphanet:238646/ntbt"}
xref: MEDGEN:1842695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238646 {source="MONDO:equivalentTo"}
xref: UMLS:C5680936 {source="MONDO:equivalentTo", source="MEDGEN:1842695", source="MONDO:MEDGEN"}
is_a: MONDO:0018960 {source="Orphanet:238646"} ! congenital primary megaureter
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016551
name: congenital primary megaureter, refluxing form
subset: gard_rare {source="GARD:20641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:238650"}
subset: rare
xref: GARD:20641 {source="MONDO:GARD"}
xref: ICD10CM:Q62.2 {source="Orphanet:238650/attributed", source="Orphanet:238650/ntbt", source="Orphanet:238650"}
xref: MEDGEN:1842549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238650 {source="MONDO:equivalentTo"}
xref: UMLS:C5680935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842549"}
is_a: MONDO:0018960 {source="Orphanet:238650"} ! congenital primary megaureter
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016552
name: congenital primary megaureter, nonrefluxing and unobstructed form
subset: gard_rare {source="GARD:20642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:238654"}
subset: rare
xref: GARD:20642 {source="MONDO:GARD"}
xref: ICD10CM:Q62.2 {source="Orphanet:238654", source="Orphanet:238654/attributed", source="Orphanet:238654/ntbt"}
xref: MEDGEN:1843330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238654 {source="MONDO:equivalentTo"}
xref: UMLS:C5680934 {source="MEDGEN:1843330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018960 {source="Orphanet:238654"} ! congenital primary megaureter

[Term]
id: MONDO:0016553
name: isolated congenital hypogonadotropic hypogonadism
def: "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: disease_grouping
subset: gard_rare {source="GARD:20643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238666"}
subset: orphanet_rare {source="Orphanet:238666"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nonsyndromic congenital hypogonadotropic hypogonadism" EXACT [MONDO:patterns/isolated]
xref: GARD:20643 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:238666", source="MONDO:relatedTo", source="Orphanet:238666/attributed", source="Orphanet:238666/ntbt"}
xref: MEDGEN:1842176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238666 {source="MONDO:equivalentTo"}
xref: UMLS:C5679849 {source="MEDGEN:1842176", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015770 {source="MONDO:Redundant", source="Orphanet:238666"} ! congenital hypogonadotropic hypogonadism
intersection_of: MONDO:0015770 ! congenital hypogonadotropic hypogonadism
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0016554
name: neonatal iodine exposure
def: "A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates." [https://orcid.org/0000-0001-5208-3432, Orphanet:238688]
subset: gard_rare {source="GARD:20644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238688"}
subset: orphanet_rare {source="Orphanet:238688"}
subset: rare
synonym: "iodine antenatal exposure" RELATED [GARD:0003025]
xref: GARD:20644 {source="MONDO:GARD"}
xref: ICD10CM:P72.2 {source="Orphanet:238688", source="Orphanet:238688/ntbt"}
xref: MEDGEN:1669806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238688 {source="MONDO:equivalentTo"}
xref: UMLS:C4751432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1669806"}
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
relationship: excluded_subClassOf MONDO:0016556 {source="Orphanet:238688", source="https://orcid.org/0000-0001-5208-3432"} ! transient congenital hypothyroidism due to neonatal factor

[Term]
id: MONDO:0016555
name: transient congenital hypothyroidism due to maternal factor
subset: disease_grouping
subset: gard_rare {source="GARD:20645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:238696"}
subset: rare
xref: GARD:20645 {source="MONDO:GARD"}
xref: ICD10CM:P72.2 {source="Orphanet:238696/ntbt", source="Orphanet:238696"}
xref: MEDGEN:1842783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238696 {source="MONDO:equivalentTo"}
xref: UMLS:C5680929 {source="MONDO:equivalentTo", source="MEDGEN:1842783", source="MONDO:MEDGEN"}
is_a: MONDO:0015792 {source="Orphanet:238696"} ! transient congenital hypothyroidism

[Term]
id: MONDO:0016556
name: transient congenital hypothyroidism due to neonatal factor
subset: disease_grouping
subset: gard_rare {source="GARD:20646", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:238699"}
subset: rare
xref: GARD:20646 {source="MONDO:GARD"}
xref: ICD10CM:P72.2 {source="Orphanet:238699", source="Orphanet:238699/ntbt"}
xref: MEDGEN:1842815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238699 {source="MONDO:equivalentTo"}
xref: UMLS:C5680930 {source="MEDGEN:1842815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015792 {source="Orphanet:238699"} ! transient congenital hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016557
name: leukonychia totalis
def: "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present." [Orphanet:2387]
subset: gard_rare {source="GARD:9759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2387"}
subset: orphanet_rare {source="Orphanet:2387"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary white nails" RELATED [GARD:0009759]
synonym: "total leukonychia" RELATED [GARD:0009759]
xref: GARD:9759 {source="MONDO:GARD"}
xref: ICD10CM:Q84.4 {source="Orphanet:2387/attributed", source="Orphanet:2387/ntbt", source="Orphanet:2387"}
xref: MEDGEN:1641555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535889 {source="Orphanet:2387", source="MONDO:equivalentTo", source="Orphanet:2387/e"}
xref: Orphanet:2387 {source="MONDO:equivalentTo"}
xref: SCTID:763792009 {source="MONDO:equivalentTo"}
xref: UMLS:C4551625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641555"}
is_a: MONDO:0019284 {source="Orphanet:2387"} ! inherited isolated nail anomaly

[Term]
id: MONDO:0016558
name: familial congenital mirror movements
def: "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." [https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder]
subset: gard_rare {source="GARD:12551", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238722"}
subset: orphanet_rare {source="Orphanet:238722"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bimanual synkinesis" RELATED [GARD:0012551]
synonym: "CMM" RELATED ABBREVIATION [GARD:0012551]
synonym: "congenital mirror movement disorder" RELATED [DOID:0111153, GARD:0012551]
synonym: "congenital mirror movements" RELATED [GARD:0012551]
synonym: "familial congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722]
synonym: "familial congenital mirror movements" EXACT [DOID:0111153]
synonym: "hereditary congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722]
synonym: "hereditary congenital mirror movements" EXACT [DOID:0111153, Orphanet:238722]
synonym: "isolated congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722]
synonym: "isolated congenital mirror movements" EXACT [DOID:0111153, Orphanet:238722]
xref: DOID:0111153 {source="MONDO:equivalentTo"}
xref: GARD:12551 {source="MONDO:GARD"}
xref: MEDGEN:473166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:157600 {source="MONDO:equivalentTo"}
xref: Orphanet:238722 {source="MONDO:equivalentTo", source="DOID:0111153"}
xref: SCTID:229247004 {source="MONDO:equivalentTo"}
xref: UMLS:C0454455 {source="MONDO:equivalentTo", source="MEDGEN:473166", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="DOID:0111153", source="Orphanet:238722", source="Orphanet:238722/inferred"} ! movement disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015957"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:157600"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016559
name: glaucoma secondary to spherophakia/ectopia lentis and megalocornea
def: "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate." [Orphanet:238763]
subset: gard_rare {source="GARD:10942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238763"}
subset: ordo_malformation_syndrome {source="Orphanet:238763"}
subset: orphanet_rare {source="Orphanet:238763"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "megalocornea-spherophakia-secondary glaucoma syndrome" EXACT [Orphanet:238763]
xref: GARD:10942 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:238763/attributed", source="Orphanet:238763/ntbt", source="Orphanet:238763"}
xref: MEDGEN:1674483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238763 {source="MONDO:equivalentTo"}
xref: UMLS:C5190883 {source="MONDO:equivalentTo", source="MEDGEN:1674483", source="MONDO:MEDGEN"}
is_a: MONDO:0009633 ! microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
is_a: MONDO:0018174 {source="Orphanet:238763"} ! hereditary glaucoma

[Term]
id: MONDO:0016560
name: ptosis-syndactyly-learning difficulties syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:238766"}
subset: rare
xref: Orphanet:238766 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0015159 {source="Orphanet:238766"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:238766", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016561
name: 1q44 microdeletion syndrome
def: "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." [Orphanet:238769]
subset: gard_rare {source="GARD:10943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238769"}
subset: ordo_malformation_syndrome {source="Orphanet:238769"}
subset: orphanet_rare {source="Orphanet:238769"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 1q44 microdeletion syndrome" RELATED [GARD:0010943]
synonym: "Del(1)(q44)" EXACT [Orphanet:238769]
synonym: "monosomy 1q44" EXACT [Orphanet:238769]
xref: GARD:10943 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:238769/attributed", source="Orphanet:238769/ntbt", source="Orphanet:238769"}
xref: MEDGEN:930209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:238769 {source="MONDO:equivalentTo"}
xref: SCTID:719649004 {source="MONDO:equivalentTo"}
xref: UMLS:C4304540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930209"}
is_a: MONDO:0022756 {source="Orphanet:238769"} ! chromosome 1q deletion
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1q44 ! 1q44 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome" xsd:anyURI {source="GARD:0010943"}

[Term]
id: MONDO:0016562
name: progressive supranuclear palsy-pure akinesia with gait freezing syndrome
def: "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." [Orphanet:240094]
subset: gard_rare {source="GARD:20647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:240094"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PSP-PAGF" EXACT [Orphanet:240094]
synonym: "PSP-pure akinesia with gait freezing" EXACT [Orphanet:240094]
xref: GARD:20647 {source="MONDO:GARD"}
xref: ICD10CM:G23.1 {source="Orphanet:240094/attributed", source="Orphanet:240094/ntbt", source="Orphanet:240094"}
xref: MEDGEN:1843032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:240094 {source="MONDO:equivalentTo"}
xref: UMLS:C5679851 {source="MEDGEN:1843032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020488 {source="Orphanet:240094"} ! atypical progressive supranuclear palsy syndrome

[Term]
id: MONDO:0016563
name: progressive supranuclear palsy-corticobasal syndrome
def: "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." [Orphanet:240103]
subset: gard_rare {source="GARD:20648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:240103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PSP-CBS" EXACT [Orphanet:240103]
synonym: "PSP-corticobasal syndrome" EXACT [Orphanet:240103]
xref: GARD:20648 {source="MONDO:GARD"}
xref: ICD10CM:G23.1 {source="Orphanet:240103", source="Orphanet:240103/attributed", source="Orphanet:240103/ntbt"}
xref: MEDGEN:1781130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:240103 {source="MONDO:equivalentTo"}
xref: UMLS:C5548189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781130"}
is_a: MONDO:0020488 {source="Orphanet:240103"} ! atypical progressive supranuclear palsy syndrome

[Term]
id: MONDO:0016564
name: progressive supranuclear palsy-progressive non-fluent aphasia syndrome
def: "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." [Orphanet:240112]
subset: gard_rare {source="GARD:20649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:240112"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "progressive supranuclear palsy-apraxia of speech syndrome" EXACT [Orphanet:240112]
synonym: "PSP-AOS" EXACT [Orphanet:240112]
synonym: "PSP-PNFA" EXACT [Orphanet:240112]
xref: GARD:20649 {source="MONDO:GARD"}
xref: ICD10CM:G23.1 {source="Orphanet:240112", source="Orphanet:240112/attributed", source="Orphanet:240112/ntbt"}
xref: MEDGEN:1842806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:240112 {source="MONDO:equivalentTo"}
xref: UMLS:C5679850 {source="MEDGEN:1842806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020488 {source="Orphanet:240112"} ! atypical progressive supranuclear palsy syndrome

[Term]
id: MONDO:0016565
name: obsolete syndromic genetic obesity
subset: ordo_group_of_disorders {source="Orphanet:240371"}
subset: otar {source="MONDO:OTAR"}
synonym: "syndrome associated with obesity (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic obesity (disease)" EXACT [MONDO:patterns/syndromic]
xref: GARD:20650 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:240371 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6692" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016566
name: loiasis
def: "Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis." [Orphanet:2404]
subset: gard_rare {source="GARD:3283", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2404"}
subset: orphanet_rare {source="Orphanet:2404"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "African eye worm" RELATED [GARD:0003283]
synonym: "Loa loa filariasis" RELATED [GARD:0003283]
xref: DOID:13523 {source="EFO:1000729", source="MONDO:equivalentTo"}
xref: EFO:1000729 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3283 {source="MONDO:GARD"}
xref: ICD10CM:B74.3 {source="MONDO:equivalentTo", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"}
xref: icd11.foundation:709184369 {source="MONDO:equivalentTo", source="Orphanet:2404"}
xref: ICD9:125.2 {source="DOID:13523"}
xref: MedDRA:10024797 {source="Orphanet:2404", source="Orphanet:2404/e"}
xref: MEDGEN:6132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008118 {source="MONDO:equivalentTo", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"}
xref: NCIT:C34784 {source="MONDO:equivalentTo", source="DOID:13523"}
xref: Orphanet:2404 {source="MONDO:equivalentTo"}
xref: SCTID:44250009 {source="MONDO:equivalentTo", source="DOID:13523"}
xref: UMLS:C0023968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6132"}
is_a: MONDO:0005135 {source="DOID:13523/inferred", source="MESH:D008118/inferred", source="MONDO:Redundant", source="NCIT:C34784"} ! parasitic infectious disease
is_a: MONDO:0016075 {source="DOID:13523", source="ICD10CM:B74.3", source="MESH:D008118", source="Orphanet:2404"} ! filariasis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3283/loiasis" xsd:anyURI {source="GARD:0003283"}

[Term]
id: MONDO:0016567
name: locked-in syndrome
def: "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." [Orphanet:2406]
subset: gard_rare {source="GARD:6919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1376"}
subset: ordo_disorder {source="Orphanet:2406"}
subset: orphanet_rare {source="Orphanet:2406"}
subset: rare
synonym: "Cerebromedullospinal disconnection" EXACT [Orphanet:2406]
synonym: "Locked In Syndrome" EXACT [NORD:1376]
synonym: "locked in syndrome" EXACT [DOID:12697]
synonym: "locked-in state" EXACT [DOID:12697, ICD9CM:344.81]
xref: DOID:12697 {source="MONDO:equivalentTo"}
xref: GARD:6919 {source="MONDO:GARD"}
xref: ICD10CM:G83.5 {source="DOID:12697"}
xref: ICD10CM:G83.8 {source="Orphanet:2406/ntbt", source="Orphanet:2406"}
xref: ICD9:344.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12697"}
xref: MedDRA:10024792 {source="Orphanet:2406/e", source="Orphanet:2406"}
xref: MEDGEN:7378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000080422 {source="MONDO:equivalentTo"}
xref: MESH:D011782 {source="MONDO:relatedTo", source="DOID:12697"}
xref: NORD:1376 {source="MONDO:NORD"}
xref: Orphanet:2406 {source="MONDO:equivalentTo"}
xref: SCTID:38023001 {source="MONDO:equivalentTo", source="DOID:12697"}
xref: UMLS:C0023944 {source="MEDGEN:7378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="Orphanet:2406"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome" xsd:anyURI {source="GARD:0006919"}

[Term]
id: MONDO:0016568
name: Lowe-Kohn-Cohen syndrome
def: "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983." [Orphanet:2408]
comment: Editor note: check GARD assignment
subset: gard_rare {source="GARD:1695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2408"}
subset: ordo_malformation_syndrome {source="Orphanet:2408"}
subset: orphanet_rare {source="Orphanet:2408"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness - nephritis - ano-rectal malformation" RELATED [GARD:0001695]
synonym: "deafness nephritis anorectal malformation" RELATED [GARD:0001695]
synonym: "deafness-nephritis-ano-rectal malformation syndrome" EXACT [Orphanet:2408]
synonym: "dominant ano-rectal malformation, nephritis and nerve-deafness" RELATED [GARD:0001695]
synonym: "Lowe Kohn Cohen syndrome" RELATED [GARD:0001695]
xref: GARD:1695 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2408/attributed", source="Orphanet:2408/ntbt", source="Orphanet:2408"}
xref: MEDGEN:443973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535996 {source="MONDO:equivalentTo"}
xref: Orphanet:2408 {source="MONDO:equivalentTo"}
xref: SCTID:766249007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931080 {source="MEDGEN:443973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1695/deafness-nephritis-anorectal-malformation" xsd:anyURI {source="GARD:0001695"}

[Term]
id: MONDO:0016569
name: obsolete rare lymphatic malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/416" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002013

[Term]
id: MONDO:0016570
name: primary pulmonary lymphoma
def: "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG)." [Orphanet:2420]
comment: Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma
subset: gard_rare {source="GARD:18770", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2420"}
subset: orphanet_rare {source="Orphanet:2420"}
subset: rare
xref: GARD:18770 {source="MONDO:GARD"}
xref: MedDRA:10037418 {source="Orphanet:2420", source="Orphanet:2420/e"}
xref: MEDGEN:903876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2420 {source="MONDO:equivalentTo"}
xref: SCTID:718200007 {source="MONDO:equivalentTo"}
xref: UMLS:C4273669 {source="MEDGEN:903876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017207 {source="Orphanet:2420"} ! primary organ-specific lymphoma

[Term]
id: MONDO:0016571
name: macrocephaly-short stature-paraplegia syndrome
def: "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults." [Orphanet:2427]
subset: gard_rare {source="GARD:172", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2427"}
subset: ordo_malformation_syndrome {source="Orphanet:2427"}
subset: orphanet_rare {source="Orphanet:2427"}
subset: rare
synonym: "Volcke-Soekarman syndrome" EXACT [Orphanet:2427]
xref: GARD:172 {source="MONDO:GARD"}
xref: MEDGEN:419845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537718 {source="MONDO:equivalentTo"}
xref: Orphanet:2427 {source="MONDO:equivalentTo"}
xref: SCTID:722033000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931595 {source="MEDGEN:419845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2427"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation

[Term]
id: MONDO:0016572
name: central bilateral macrogyria
def: "Central bilateral macrogyria is a neuronal migration disorder characterized by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children." [Orphanet:2431]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: ICD10CM:Q04.8 {source="Orphanet:2431/attributed", source="Orphanet:2431/ntbt", source="Orphanet:2431"}
xref: MEDGEN:929618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2431 {source="MONDO:equivalentObsolete"}
xref: SCTID:720632004 {source="MONDO:equivalentTo"}
xref: UMLS:C4303949 {source="MEDGEN:929618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017094 {source="Orphanet:2431"} ! cerebral cortical dysplasia

[Term]
id: MONDO:0016573
name: acute fatty liver of pregnancy
def: "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." [Orphanet:243367]
subset: gard_rare {source="GARD:9578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:243367"}
subset: orphanet_rare {source="Orphanet:243367"}
subset: rare
synonym: "acute fatty liver, gestational" RELATED [GARD:0009578]
synonym: "AFLP" EXACT ABBREVIATION [Orphanet:243367]
xref: GARD:9578 {source="MONDO:GARD"}
xref: ICD10CM:O26.6 {source="Orphanet:243367/ntbt", source="Orphanet:243367"}
xref: MedDRA:10000746 {source="Orphanet:243367", source="Orphanet:243367/e"}
xref: MEDGEN:264102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537957 {source="Orphanet:243367", source="MONDO:equivalentTo", source="Orphanet:243367/e"}
xref: Orphanet:243367 {source="MONDO:equivalentTo"}
xref: SCTID:716379000 {source="MONDO:equivalentTo"}
xref: UMLS:C1455728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:264102"}
is_a: MONDO:0024575 {source="Orphanet:243367"} ! pregnancy disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015582"} ! rare
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy" xsd:anyURI {source="GARD:0009578"}

[Term]
id: MONDO:0016574
name: hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
def: "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." [Orphanet:2435]
subset: gard_rare {source="GARD:3347", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2435"}
subset: orphanet_rare {source="Orphanet:2435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hypomelanotic and hypermelanotic macules" RELATED [GARD:0003347, MESH:C537836]
synonym: "hereditary congenital hypopigmented and hyperpigmented macules" RELATED [GARD:0003347, MESH:C537836]
synonym: "macules hereditary congenital hypopigmented and hyperpigmented" RELATED [GARD:0003347]
synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" RELATED [MESH:C537836]
synonym: "Westerhof Beemer Cormane syndrome" RELATED [GARD:0003347, MESH:C537836]
synonym: "Westerhof-Beemer-Cormane syndrome" EXACT [Orphanet:2435]
xref: GARD:3347 {source="MONDO:GARD"}
xref: MEDGEN:371988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537836 {source="MONDO:equivalentTo"}
xref: OMIM:154000 {source="MONDO:equivalentObsolete", source="GARD:0003347"}
xref: Orphanet:2435 {source="GARD:0003347", source="MONDO:equivalentTo"}
xref: SCTID:733469003 {source="MONDO:equivalentTo"}
xref: UMLS:C1835172 {source="MEDGEN:371988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019288 {source="MESH:C537836", source="Orphanet:2435"} ! skin pigmentation disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented" xsd:anyURI {source="GARD:0003347"}

[Term]
id: MONDO:0016575
name: primary ciliary dyskinesia
def: "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)." [Orphanet:244]
comment: Editor note: we deliberately merge two MESHes here
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4484", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1605", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:244"}
subset: orphanet_rare {source="Orphanet:244"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bronchiectasis, chronic sinusitis and dextrocardia syndrome" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "ciliary dyskinesia primary" RELATED [GARD:0004484]
synonym: "ciliary motility disorder" EXACT [DOID:9562]
synonym: "Dextrocardia bronchiectasis and sinusitis" RELATED [GARD:0006815]
synonym: "Dextrocardia-bronchiectasis-sinusitis syndrome" RELATED [GARD:0006815]
synonym: "ICS" RELATED ABBREVIATION [GARD:0004484]
synonym: "Immotile cilia syndrome, Kartagener type" RELATED [GARD:0006815]
synonym: "immotile ciliary syndrome" EXACT [DOID:9562]
synonym: "Kartagener syndrome" EXACT [MONDO:0000260]
synonym: "Kartagener's syndrome" EXACT [DOID:0050144, https://orcid.org/0000-0002-6601-2165]
synonym: "PCD" EXACT ABBREVIATION [Orphanet:244]
synonym: "Primary ciliary dyskinesia and situs inversus" RELATED [GARD:0006815]
synonym: "Primary ciliary dyskinesia, Kartagener type" RELATED [GARD:0006815]
synonym: "Siewert syndrome" RELATED [GARD:0006815, https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050144 {source="MONDO:equivalentTo"}
xref: DOID:9562 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:4484 {source="MONDO:GARD"}
xref: ICD10CM:Q34.8 {source="Orphanet:244/attributed", source="Orphanet:244/ntbt", source="Orphanet:244"}
xref: MedDRA:10069713 {source="Orphanet:244/e", source="Orphanet:244"}
xref: MEDGEN:3467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002925 {source="MONDO:equivalentTo", source="DOID:9562"}
xref: MESH:D007619 {source="DOID:0050144", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NANDO:2100034 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200203 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200204 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84638 {source="MONDO:otherHierarchy", source="DOID:9562"}
xref: NCIT:C84797 {source="DOID:0050144", source="MONDO:equivalentTo"}
xref: NORD:1605 {source="MONDO:NORD"}
xref: OMIMPS:244400 {source="MONDO:equivalentTo", source="DOID:9562"}
xref: Orphanet:244 {source="MONDO:equivalentTo", source="DOID:9562"}
xref: Orphanet:98861 {source="DOID:0050144", source="GARD:0006815", source="MONDO:obsolete"}
xref: SCTID:42402006 {source="DOID:0050144", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:86204009 {source="DOID:0050144", source="MONDO:equivalentTo", source="DOID:9562"}
xref: SCTID:9057007 {source="DOID:9562"}
xref: UMLS:C0008780 {source="MEDGEN:3467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84797"} ! syndromic disease
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:244"} ! respiratory system disorder
is_a: MONDO:0005308 {source="DOID:0050144/inferred", source="DOID:9562", source="Wikipedia:Ciliopathy"} ! ciliopathy
relationship: excluded_subClassOf MONDO:0018395 {source="Orphanet:244", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete male infertility due to sperm motility disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:244400"} ! inherited

[Term]
id: MONDO:0016576
name: split hand-foot malformation
def: "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported." [Orphanet:2440]
subset: gard_rare {source="GARD:6319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1731"}
subset: ordo_disorder {source="Orphanet:2440"}
subset: ordo_malformation_syndrome {source="Orphanet:2440"}
subset: orphanet_rare {source="Orphanet:2440"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectrodactyly" EXACT [Orphanet:2440]
synonym: "FEWER digits" EXACT [NCIT:C75000]
synonym: "isolated split hand-split foot malformation" RELATED [Orphanet:2440]
synonym: "lobster-claw deformity" EXACT [DOID:0090020, Orphanet:2440]
synonym: "SHFM" EXACT ABBREVIATION [Orphanet:2440]
synonym: "split hand foot malformation" EXACT [Orphanet:2440]
synonym: "split hand-split foot malformation" RELATED [Orphanet:2440]
synonym: "Split Hand/Split Foot Malformation" EXACT [NORD:1731]
synonym: "split-hand deformity" EXACT [DOID:0090020]
synonym: "split-hand/foot malformation" EXACT [NCIT:C75000]
xref: DOID:0090020 {source="MONDO:equivalentTo"}
xref: GARD:6319 {source="MONDO:GARD"}
xref: ICD10CM:Q71.6 {source="Orphanet:2440", source="DOID:0090020", source="Orphanet:2440/btnt", source="Orphanet:2440/specific"}
xref: ICD10CM:Q72.7 {source="Orphanet:2440", source="Orphanet:2440/btnt", source="Orphanet:2440/specific"}
xref: MEDGEN:78566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C75000 {source="MONDO:equivalentTo"}
xref: NORD:1731 {source="MONDO:NORD"}
xref: OMIMPS:183600 {source="DOID:0090020", source="MONDO:equivalentTo"}
xref: Orphanet:2440 {source="DOID:0090020", source="MONDO:equivalentTo"}
xref: SCTID:81208006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78566"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:12668597", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:183600"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016577
name: biliary atresia with splenic malformation syndrome
def: "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." [Orphanet:244283]
subset: gard_rare {source="GARD:20652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:244283"}
subset: ordo_malformation_syndrome {source="Orphanet:244283"}
subset: orphanet_rare {source="Orphanet:244283"}
subset: rare
synonym: "BASM syndrome" EXACT [Orphanet:244283]
xref: GARD:20652 {source="MONDO:GARD"}
xref: ICD10CM:Q44.2 {source="Orphanet:244283/ntbt", source="Orphanet:244283"}
xref: MEDGEN:907806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:244283 {source="MONDO:equivalentTo"}
xref: SCTID:717156002 {source="MONDO:equivalentTo"}
xref: UMLS:C4274029 {source="MEDGEN:907806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature MONDO:0008867 ! biliary atresia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016578
name: obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
def: "OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis." [Orphanet:2443]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder'
subset: ordo_group_of_disorders {source="Orphanet:2443"}
synonym: "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies" EXACT [Orphanet:2443]
synonym: "OXPHOS disease due to nDNA anomalies" EXACT [Orphanet:2443]
synonym: "OXPHOS disease due to nuclear DNA anomalies" EXACT [Orphanet:2443]
xref: GARD:18771 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:2443 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016387

[Term]
id: MONDO:0016579
name: obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis
subset: ordo_disorder {source="Orphanet:244305"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17186 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:244305 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:244305", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016580
name: congenital pulmonary airway malformation
def: "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." [MESH:D015615]
subset: gard_rare {source="GARD:18772", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2444"}
subset: ordo_malformation_syndrome {source="Orphanet:2444"}
subset: orphanet_rare {source="Orphanet:2444"}
subset: rare
synonym: "CCAM" EXACT ABBREVIATION [Orphanet:2444]
synonym: "congenital cystic adenomatoid malformation" RELATED [GARD:0006232]
synonym: "congenital cystic adenomatoid malformation of lung" EXACT [NCIT:C98892]
synonym: "congenital cystic adenomatoid malformation of the lung" EXACT [Orphanet:2444]
synonym: "congenital cystic adenomatous malformation of the lung" EXACT [Orphanet:2444]
synonym: "congenital cystic disease of the lung" EXACT [Orphanet:2444]
synonym: "CPAM" EXACT ABBREVIATION [Orphanet:2444]
synonym: "cystic adenomatoid malformation of lung" RELATED [GARD:0006232]
xref: GARD:18772 {source="MONDO:GARD"}
xref: ICD10CM:Q33.0 {source="Orphanet:2444/ntbt", source="Orphanet:2444"}
xref: icd11.foundation:2091138945 {source="Orphanet:2444", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:8225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015615 {source="MONDO:equivalentTo"}
xref: NCIT:C98892 {source="MONDO:equivalentTo"}
xref: Orphanet:2444 {source="MONDO:equivalentTo"}
xref: SCTID:111318005 {source="MONDO:equivalentTo"}
xref: UMLS:C0010668 {source="MEDGEN:8225", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016581
name: conotruncal heart malformations
def: "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." [Orphanet:2445]
subset: disease_grouping
subset: gard_rare {source="GARD:8189", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:2445"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "conotruncal anomaly face syndrome" RELATED [OMIM:217095]
synonym: "conotruncal cardiac defects" RELATED [GARD:0008189]
synonym: "conotruncal heart malformations" EXACT [MONDO:Lexical, OMIM:217095]
synonym: "conotruncal heart malformations, variable" EXACT [OMIM:217095, OMIM:genemap2]
synonym: "CTHM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217095]
synonym: "Double-outlet right ventricle" RELATED [OMIM:217095]
synonym: "interrupted aortic Arch" RELATED [OMIM:217095]
synonym: "persistent truncus arteriosus" RELATED [OMIM:217095]
synonym: "Taussig-Bing syndrome or defect" EXACT [DOID:6406]
synonym: "truncus arteriosus communis" RELATED [OMIM:217095]
xref: GARD:8189 {source="MONDO:GARD"}
xref: ICD9:747.11 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:341803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200275 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:217095 {source="Orphanet:2445", source="MONDO:equivalentTo", source="Orphanet:2445/e"}
xref: Orphanet:2445 {source="MONDO:equivalentTo"}
xref: SCTID:218728005 {source="MONDO:equivalentTo"}
xref: UMLS:C1857586 {source="MEDGEN:341803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016582
name: congenital mitral malformation
subset: disease_grouping
subset: gard_rare {source="GARD:1495", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:2447"}
subset: rare
xref: GARD:1495 {source="MONDO:GARD"}
xref: MEDGEN:1842184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2447 {source="MONDO:equivalentTo"}
xref: UMLS:C5680882 {source="MEDGEN:1842184", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1495/congenital-mitral-malformation" xsd:anyURI {source="GARD:0001495"}

[Term]
id: MONDO:0016583
name: familial intestinal malrotation-facial anomalies syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:2454"}
synonym: "intestinal malrotation facial anomalies familial type" RELATED [GARD:0005000]
synonym: "Stalker Chitayat syndrome" RELATED [GARD:0005000]
synonym: "Stalker-Chitayat syndrome" EXACT [Orphanet:2454]
xref: ICD10CM:Q43.3 {source="Orphanet:2454", source="Orphanet:2454/attributed", source="Orphanet:2454/ntbt"}
xref: Orphanet:2454 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0008666 ! volvulus of midgut
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016584
name: mandibuloacral dysplasia
def: "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy." [Orphanet:2457]
subset: gard_rare {source="GARD:11893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1398"}
subset: ordo_disorder {source="Orphanet:2457"}
subset: ordo_malformation_syndrome {source="Orphanet:2457"}
subset: orphanet_rare {source="Orphanet:2457"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MAD" EXACT ABBREVIATION [Orphanet:2457]
synonym: "mandibuloacral dysplasia with lipodystrophy" EXACT [MONDO:0000056]
xref: DOID:0081127 {source="MONDO:equivalentTo"}
xref: GARD:11893 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2457", source="Orphanet:2457/attributed", source="Orphanet:2457/ntbt"}
xref: MEDGEN:98485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1398 {source="MONDO:NORD"}
xref: OMIMPS:248370 {source="MONDO:equivalentTo"}
xref: Orphanet:2457 {source="MONDO:equivalentTo"}
xref: UMLS:C0432291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98485"}
is_a: MONDO:0015161 {source="Orphanet:2457"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019707 {source="Orphanet:2457"} ! primary osteolysis
is_a: MONDO:0020087 {source="Orphanet:2457", source="Orphanet:2457/inferred"} ! hereditary lipodystrophy
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:2457", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:248370"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI

[Term]
id: MONDO:0016585
name: obsolete mansonelliasis
is_obsolete: true
replaced_by: MONDO:0005838

[Term]
id: MONDO:0016586
name: systemic mastocytosis
def: "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." [Orphanet:2467]
subset: disease_grouping
subset: gard_rare {source="GARD:8616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:2467"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aggressive systemic mastocytosis" RELATED [GARD:0008616]
synonym: "Mast cell disease" BROAD [Orphanet:2467]
synonym: "SM" RELATED ABBREVIATION [ONCOTREE:SM]
synonym: "SMCD - systemic mast cell disease" EXACT [DOID:349]
synonym: "systemic mast cell disease" RELATED [GARD:0008616]
synonym: "systemic mastocytosis" EXACT [MONDO:0002663, NCIT:C9235]
synonym: "systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)" RELATED [GARD:0008616]
synonym: "systemic mastocytosis, NOS" RELATED EXCLUDE [NCIT:C9235]
synonym: "systemic tissue Mast cell disease" EXACT [NCIT:C9235]
synonym: "systemic tissue mast cell disease" EXACT [DOID:349]
xref: DOID:349 {source="MONDO:equivalentTo"}
xref: GARD:8616 {source="MONDO:GARD"}
xref: ICD10CM:C96.2 {source="Orphanet:2467/ntbt", source="Orphanet:2467"}
xref: icd11.foundation:1144812971 {source="Orphanet:2467", source="MONDO:equivalentTo"}
xref: MedDRA:10042949 {source="Orphanet:2467", source="Orphanet:2467/e"}
xref: MEDGEN:67436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034721 {source="DOID:349", source="Orphanet:2467", source="Orphanet:2467/e"}
xref: NCIT:C9235 {source="DOID:349", source="MONDO:equivalentTo"}
xref: ONCOTREE:SM {source="MONDO:equivalentTo"}
xref: Orphanet:2467 {source="MONDO:equivalentTo"}
xref: SCTID:123310005 {source="DOID:349"}
xref: SCTID:397016004 {source="DOID:349", source="MONDO:equivalentTo"}
xref: SCTID:50150000 {source="DOID:349"}
xref: UMLS:C0221013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67436"}
is_a: MONDO:0007950 {source="DOID:349", source="NCIT:C9235", source="ONCOTREE:SM", source="Orphanet:2467"} ! mastocytosis

[Term]
id: MONDO:0016587
name: arrhythmogenic right ventricular cardiomyopathy
def: "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death." [Orphanet:247]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:5847", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:247"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arrhythmogenic right ventricular cardiomyopathy" EXACT CLINGEN_LABEL [GARD:0005847]
synonym: "arrhythmogenic right ventricular dysplasia" EXACT [DOID:0050431, Orphanet:247]
synonym: "arrhythmogenic right ventricular dysplasia/cardiomyopathy" EXACT [DOID:0050431]
synonym: "arrhythmogenic RVD" EXACT [NCIT:C84571]
synonym: "ARVC" EXACT ABBREVIATION [DOID:0050431, Orphanet:247]
synonym: "ARVC cardiomyopathy" EXACT [DOID:0050431]
synonym: "ARVD" EXACT ABBREVIATION [DOID:0050431, GARD:0005847, Orphanet:247]
synonym: "right ventricular dysplasia" EXACT [NCIT:C84571]
xref: DOID:0050431 {source="MONDO:equivalentTo"}
xref: GARD:5847 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:247", source="Orphanet:247/index", source="Orphanet:247/ntbt"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10058093 {source="Orphanet:247", source="Orphanet:247/e"}
xref: MEDGEN:87618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019571 {source="Orphanet:247", source="DOID:0050431", source="MONDO:equivalentTo", source="Orphanet:247/e"}
xref: NANDO:2100055 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200230 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84571 {source="DOID:0050431", source="MONDO:equivalentTo"}
xref: Orphanet:217656 {source="DOID:0050431"}
xref: Orphanet:247 {source="DOID:0050431", source="MONDO:equivalentTo"}
xref: SCTID:253528005 {source="DOID:0050431"}
xref: SCTID:281170005 {source="DOID:0050431", source="MONDO:equivalentTo"}
xref: UMLS:C0349788 {source="MEDGEN:87618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000591 {source="DOID:0050431", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy
is_a: MONDO:0005267 {source="Orphanet:247"} ! heart disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020029"} ! rare

[Term]
id: MONDO:0016588
name: infantile mercury poisoning
def: "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia." [Orphanet:247165]
subset: gard_rare {source="GARD:20653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247165"}
subset: orphanet_rare {source="Orphanet:247165"}
subset: rare
synonym: "erythroedema polyneuritis" EXACT [Orphanet:247165]
synonym: "Feer disease" EXACT [Orphanet:247165]
synonym: "infantile acrodynia" EXACT [Orphanet:247165]
synonym: "infantile mercury intoxication" EXACT [Orphanet:247165]
synonym: "pink disease" EXACT [Orphanet:247165]
synonym: "Swift disease" EXACT [Orphanet:247165]
synonym: "Swift-Feer disease" EXACT [Orphanet:247165]
xref: GARD:20653 {source="MONDO:GARD"}
xref: ICD10CM:T56.1 {source="Orphanet:247165/ntbt", source="Orphanet:247165"}
xref: MESH:D000170 {source="MONDO:equivalentTo"}
xref: Orphanet:247165 {source="MONDO:equivalentTo"}
xref: SCTID:66695004 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:247165"} ! poisoning
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare
relationship: realized_in_response_to ECTO:0001571 ! exposure to mercury

[Term]
id: MONDO:0016589
name: obsolete progressive cerebello-cerebral atrophy
subset: ordo_disorder {source="Orphanet:247198"}
subset: otar {source="MONDO:OTAR"}
synonym: "PCCA" EXACT ABBREVIATION [Orphanet:247198]
xref: GARD:17187 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:247198 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016590
name: obsolete collecting duct carcinoma
is_obsolete: true
replaced_by: MONDO:0005220

[Term]
id: MONDO:0016591
name: sporadic adult-onset ataxia of unknown etiology
def: "Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported." [Orphanet:247234]
subset: gard_rare {source="GARD:20654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247234"}
subset: orphanet_rare {source="Orphanet:247234"}
subset: rare
synonym: "idiopathic late-onset cerebellar ataxia" EXACT [Orphanet:247234]
synonym: "SAOA" EXACT ABBREVIATION [Orphanet:247234]
xref: GARD:20654 {source="MONDO:GARD"}
xref: MEDGEN:1383968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:247234 {source="MONDO:equivalentTo"}
xref: SCTID:734023003 {source="MONDO:equivalentTo"}
xref: UMLS:C4518339 {source="MEDGEN:1383968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016593 {source="https://orcid.org/0000-0002-4142-7153"} ! acquired ataxia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0016592
name: obsolete non-hereditary degenerative ataxia
subset: ordo_group_of_disorders {source="Orphanet:247239"}
xref: GARD:20655 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1257393361 {source="MONDO:obsoleteEquivalent", source="Orphanet:247239", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:247239 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0000437 {source="Orphanet:247239", source="https://orcid.org/0000-0001-5208-3432"} ! cerebellar ataxia
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016593
name: acquired ataxia
def: "A type of ataxia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: gard_rare {source="GARD:20656", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:247242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired ataxia" EXACT [MONDO:patterns/acquired]
xref: GARD:20656 {source="MONDO:GARD"}
xref: icd11.foundation:71197968 {source="MONDO:equivalentTo", source="Orphanet:247242"}
xref: MEDGEN:927781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:247242 {source="MONDO:equivalentTo"}
xref: SCTID:722968003 {source="MONDO:equivalentTo"}
xref: UMLS:C4302112 {source="MEDGEN:927781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100308 {source="https://orcid.org/0000-0002-0736-9199"} ! atactic disorder
intersection_of: MONDO:0100308 ! atactic disorder
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: disease_has_feature HP:0001251 {source="https://orcid.org/0000-0001-5208-3432"} ! Ataxia
relationship: excluded_subClassOf MONDO:0000437 {source="Orphanet:247242", source="https://orcid.org/0000-0001-5208-3432"} ! cerebellar ataxia

[Term]
id: MONDO:0016594
name: superficial siderosis
def: "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria." [Orphanet:247245]
subset: gard_rare {source="GARD:9484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247245"}
subset: orphanet_rare {source="Orphanet:247245"}
subset: rare
synonym: "hemosiderosis of the central nervous system" EXACT [Orphanet:247245]
synonym: "superficial hemosiderosis of the central nervous system" EXACT [Orphanet:247245]
synonym: "superficial hemosiderosis of the CNS" EXACT [Orphanet:247245]
synonym: "superficial siderosis of the central nervous system" EXACT [Orphanet:247245]
synonym: "superficial siderosis of the CNS" EXACT [Orphanet:247245]
xref: GARD:9484 {source="MONDO:GARD"}
xref: ICD10CM:I69.0 {source="Orphanet:247245", source="Orphanet:247245/ntbt"}
xref: MEDGEN:1371500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200543 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:247245 {source="MONDO:equivalentTo"}
xref: UMLS:C2938918 {source="MEDGEN:1371500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="https://orcid.org/0000-0002-0736-9199"} ! neurodegenerative disease
relationship: excluded_subClassOf MONDO:0016593 {source="Orphanet:247245", source="https://orcid.org/0000-0001-5208-3432"} ! acquired ataxia

[Term]
id: MONDO:0016595
name: inhalational anthrax
def: "A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated." [Orphanet:247257]
subset: gard_rare {source="GARD:20657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247257"}
subset: orphanet_rare {source="Orphanet:247257"}
subset: rare
synonym: "inhalation anthrax" RELATED [DOID:0050160]
synonym: "inhalation anthrax disease" EXACT [Orphanet:247257]
synonym: "pulmonary anthrax" EXACT [DOID:0050160, Orphanet:247257]
synonym: "respiratory anthrax" EXACT [DOID:0050160, Orphanet:247257]
synonym: "respiratory anthrax disease" EXACT [Orphanet:247257]
synonym: "wool-sorters' disease" EXACT [DOID:0050160]
synonym: "woolsorters' disease" EXACT [DOID:0050160]
xref: DOID:0050160 {source="MONDO:equivalentTo"}
xref: GARD:20657 {source="MONDO:GARD"}
xref: ICD10CM:A22.1 {source="Orphanet:247257", source="Orphanet:247257/ntbt"}
xref: ICD9:022.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10035667 {source="Orphanet:247257", source="Orphanet:247257/e"}
xref: MEDGEN:57841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C571912 {source="MONDO:equivalentTo"}
xref: Orphanet:247257 {source="MONDO:equivalentTo"}
xref: SCTID:11389007 {source="MONDO:equivalentTo"}
xref: UMLS:C0155866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57841"}
is_a: MONDO:0005113 {source="MONDO:Entailed", source="Orphanet:247257"} ! bacterial infectious disease
is_a: MONDO:0005119 {source="DOID:0050160", source="MESH:C571912"} ! anthrax infection
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0016596
name: hyperphosphatasia-intellectual disability syndrome
subset: gard_rare {source="GARD:17188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247262"}
subset: orphanet_rare {source="Orphanet:247262"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPMR" EXACT ABBREVIATION [Orphanet:247262]
synonym: "hyperphosphatasia with intellectual disability syndrome" EXACT [OMIMPS:239300]
synonym: "hyperphosphatasia with mental retardation syndrome" EXACT DEPRECATED [OMIMPS:239300]
synonym: "Mabry syndrome" EXACT [Orphanet:247262]
xref: DOID:0070431 {source="MONDO:equivalentTo"}
xref: GARD:17188 {source="MONDO:GARD"}
xref: MEDGEN:383800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:239300 {source="MONDO:equivalentTo"}
xref: Orphanet:247262 {source="MONDO:equivalentTo"}
xref: SCTID:33982008 {source="MONDO:equivalentTo"}
xref: UMLS:C1855923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383800"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0017748 {source="Orphanet:247262"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0019054 ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:247262", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:239300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0016597
name: obsolete generalized pustular psoriasis
xref: NANDO:1200240 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2829" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013626

[Term]
id: MONDO:0016598
name: autosomal recessive secondary polycythemia not associated with VHL gene
subset: gard_rare {source="GARD:20658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247378"}
subset: orphanet_rare {source="Orphanet:247378"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive secondary erythrocytosis not associated with VHL gene" EXACT [Orphanet:247378]
synonym: "autosomal recessive secondary erythrocytosis, non-Chuvash type" EXACT [Orphanet:247378]
synonym: "autosomal recessive secondary polycythemia, non-Chuvash type" EXACT [Orphanet:247378]
xref: GARD:20658 {source="MONDO:GARD"}
xref: ICD10CM:D75.1 {source="Orphanet:247378", source="Orphanet:247378/attributed", source="Orphanet:247378/ntbt"}
xref: Orphanet:247378 {source="MONDO:equivalentTo"}
is_a: MONDO:0016540 {source="Orphanet:247378"} ! congenital secondary polycythemia

[Term]
id: MONDO:0016599
name: obsolete autosomal dominant secondary polycythemia
def: "OBSOLETE. Autosomal dominant form of secondary polycythemia." [MONDO:patterns/autosomal_dominant]
subset: ordo_disorder {source="Orphanet:247511"}
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal dominant secondary erythrocytosis" EXACT [Orphanet:247511]
synonym: "secondary polycythemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:17189 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D75.1 {source="Orphanet:247511/attributed", source="Orphanet:247511/ntbt", source="Orphanet:247511"}
xref: Orphanet:247511 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016600
name: acute neonatal citrullinemia type I
def: "Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." [Orphanet:247546]
subset: gard_rare {source="GARD:20659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247546"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute neonatal citrullinemia type 1" EXACT [Orphanet:247546]
synonym: "classic citrullinemia type 1" EXACT [Orphanet:247546]
synonym: "classic citrullinemia type I" EXACT [Orphanet:247546]
xref: GARD:20659 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:247546/attributed", source="Orphanet:247546/ntbt", source="Orphanet:247546"}
xref: MEDGEN:1843387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201094 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:247546 {source="MONDO:equivalentTo"}
xref: UMLS:C5679618 {source="MEDGEN:1843387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008988 {source="Orphanet:247546"} ! citrullinemia type I
intersection_of: MONDO:0008988 ! citrullinemia type I
intersection_of: has_characteristic HP:0003623 ! Neonatal onset
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0016601
name: adult-onset citrullinemia type I
def: "Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur." [Orphanet:247573]
subset: gard_rare {source="GARD:20660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset citrullinemia type 1" EXACT [Orphanet:247573]
synonym: "late-onset citrullinemia type 1" EXACT [Orphanet:247573]
synonym: "late-onset citrullinemia type I" EXACT [Orphanet:247573]
xref: GARD:20660 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:247573/attributed", source="Orphanet:247573/ntbt", source="Orphanet:247573"}
xref: NANDO:2201095 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:247573 {source="MONDO:equivalentTo"}
is_a: MONDO:0008988 {source="Orphanet:247573"} ! citrullinemia type I
intersection_of: MONDO:0008988 ! citrullinemia type I
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0016602
name: citrin deficiency
def: "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)." [Orphanet:247582]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:20661", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:247582"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "citrin deficiency" EXACT CLINGEN_LABEL []
xref: GARD:20661 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:247582/attributed", source="Orphanet:247582/ntbt", source="Orphanet:247582"}
xref: MEDGEN:372684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200978 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200483 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:247582 {source="MONDO:equivalentTo"}
xref: SCTID:429735007 {source="MONDO:equivalentTo"}
xref: UMLS:C1997910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372684"}
is_a: MONDO:0015991 {source="Orphanet:247582"} ! citrullinemia
is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0016603
name: citrullinemia type II
def: "Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." [Orphanet:247585]
subset: gard_rare {source="GARD:10215", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:247585"}
subset: orphanet_rare {source="Orphanet:247585"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset citrin deficiency" EXACT [Orphanet:247585]
synonym: "adult-onset type 2 citrullinemia" EXACT [Orphanet:247585]
synonym: "adult-onset type II citrullinemia" EXACT [Orphanet:247585]
synonym: "citrullinemia type 2" EXACT [Orphanet:247585]
synonym: "citrullinemia type II" EXACT CLINGEN_LABEL [NCIT:C150603]
synonym: "CTLN2" EXACT ABBREVIATION [NCIT:C150603, Orphanet:247585]
xref: GARD:10215 {source="MONDO:GARD"}
xref: ICD10CM:E72.2 {source="Orphanet:247585/attributed", source="Orphanet:247585/ntbt", source="Orphanet:247585"}
xref: MEDGEN:350276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200980 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C150603 {source="MONDO:equivalentTo"}
xref: Orphanet:247585 {source="MONDO:equivalentTo"}
xref: SCTID:716863007 {source="MONDO:equivalentTo"}
xref: UMLS:C1863844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350276"}
is_a: MONDO:0015991 {source="NCIT:C150603", source="Orphanet:247585/inferred"} ! citrullinemia
is_a: MONDO:0016602 {source="Orphanet:247585"} ! citrin deficiency

[Term]
id: MONDO:0016604
name: dysraphism-cleft lip/palate-limb reduction defects syndrome
subset: gard_rare {source="GARD:3438", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2476"}
subset: ordo_malformation_syndrome {source="Orphanet:2476"}
subset: orphanet_rare {source="Orphanet:2476"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysraphism, cleft lip/palate, limb reduction defects" RELATED [GARD:0003438]
synonym: "Medeira-Dennis-Donnai syndrome" EXACT [Orphanet:2476]
xref: GARD:3438 {source="MONDO:GARD"}
xref: ICD10CM:Q00.0 {source="Orphanet:2476", source="Orphanet:2476/attributed", source="Orphanet:2476/btnt"}
xref: MEDGEN:1809965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2476 {source="MONDO:equivalentTo"}
xref: UMLS:C5679624 {source="MEDGEN:1809965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0016605
name: perinatal lethal hypophosphatasia
def: "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth." [Orphanet:247623]
subset: gard_rare {source="GARD:17191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247623"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPPN" EXACT ABBREVIATION [OMIM:241500]
synonym: "hypophosphatasia, perinatal lethal" RELATED []
synonym: "perinatal lethal phosphoethanolaminuria" EXACT [Orphanet:247623]
synonym: "perinatal lethal Rathburn disease" EXACT [Orphanet:247623]
xref: GARD:17191 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="Orphanet:247623/attributed", source="Orphanet:247623/ntbt", source="MONDO:relatedTo", source="Orphanet:247623"}
xref: MEDGEN:392928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:241500 {source="Orphanet:247623/ntbt", source="Orphanet:247623", source="MONDO:includedEntryInOMIM"}
xref: Orphanet:247623 {source="MONDO:equivalentTo"}
xref: UMLS:C2673477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:392928"}
is_a: MONDO:0018570 {source="https://orcid.org/0000-0001-5208-3432"} ! hypophosphatasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5811" xsd:anyURI

[Term]
id: MONDO:0016606
name: obsolete prenatal benign hypophosphatasia
def: "OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease." [Orphanet:247638]
subset: ordo_subtype_of_a_disorder {source="Orphanet:247638"}
synonym: "prenatal benign phosphoethanolaminuria" EXACT [Orphanet:247638]
synonym: "prenatal benign Rathburn disease" EXACT [Orphanet:247638]
xref: GARD:20662 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247638", source="Orphanet:247638/attributed", source="Orphanet:247638/ntbt"}
xref: Orphanet:247638 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2906" xsd:anyURI
is_obsolete: true
consider: MONDO:0600009
consider: MONDO:0600010
consider: MONDO:0600011

[Term]
id: MONDO:0016607
name: odontohypophosphatasia
def: "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." [Orphanet:247685]
subset: gard_rare {source="GARD:17194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247685"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPPO" EXACT ABBREVIATION [OMIM:146300]
xref: GARD:17194 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="Orphanet:247685", source="MONDO:relatedTo", source="Orphanet:247685/attributed", source="Orphanet:247685/ntbt"}
xref: MEDGEN:326709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564146 {source="MONDO:equivalentTo"}
xref: NCIT:C131309 {source="MONDO:equivalentTo"}
xref: OMIM:146300 {source="Orphanet:247685", source="Orphanet:247685/ntbt", source="MONDO:includedEntryInOMIM"}
xref: Orphanet:247685 {source="MONDO:equivalentTo"}
xref: SCTID:708672004 {source="MONDO:equivalentTo"}
xref: UMLS:C1840322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326709"}
is_a: MONDO:0018570 {source="MONDO:Redundant", source="NCIT:C131309", source="Orphanet:247685"} ! hypophosphatasia
relationship: has_characteristic HP:0000006 {source="Orphanet:247685"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0016608
name: megalencephaly
def: "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)." [MESH:D058627]
subset: gard_rare {source="GARD:16601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2477"}
subset: ordo_malformation_syndrome {source="Orphanet:2477"}
subset: orphanet_rare {source="Orphanet:2477"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macroencephaly" EXACT [Orphanet:2477]
synonym: "megalencephaly" EXACT [MONDO:ambiguous]
synonym: "megalencephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:16601 {source="MONDO:GARD"}
xref: HP:0001355 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q04.5 {source="Orphanet:2477", source="Orphanet:2477/e"}
xref: icd11.foundation:368780653 {source="Orphanet:2477", source="MONDO:equivalentTo"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10050183 {source="Orphanet:2477", source="Orphanet:2477/e"}
xref: MEDGEN:65141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058627 {source="MONDO:equivalentTo"}
xref: Orphanet:2477 {source="MONDO:equivalentTo"}
xref: SCTID:9740002 {source="MONDO:equivalentTo"}
xref: UMLS:C0221355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65141"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "megalencephaly (disease)" xsd:string

[Term]
id: MONDO:0016609
name: inflammatory myopathy with abundant macrophages
def: "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." [Orphanet:247718]
subset: gard_rare {source="GARD:20663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247718"}
subset: orphanet_rare {source="Orphanet:247718"}
subset: rare
synonym: "imam" EXACT [Orphanet:247718]
xref: GARD:20663 {source="MONDO:GARD"}
xref: ICD10CM:G72.4 {source="Orphanet:247718", source="Orphanet:247718/ntbt"}
xref: MEDGEN:1638939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:247718 {source="MONDO:equivalentTo"}
xref: SCTID:766706007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638939"}
is_a: MONDO:0020122 {source="Orphanet:247718"} ! acquired idiopathic inflammatory myopathy

[Term]
id: MONDO:0016610
name: idiopathic eosinophilic myositis
subset: gard_rare {source="GARD:20664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247724"}
subset: orphanet_rare {source="Orphanet:247724"}
subset: rare
synonym: "idiopathic eosinophilia-associated myopathy" EXACT [Orphanet:247724]
xref: GARD:20664 {source="MONDO:GARD"}
xref: ICD10CM:M60.8 {source="Orphanet:247724", source="Orphanet:247724/ntbt"}
xref: MEDGEN:1659844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:247724 {source="MONDO:equivalentTo"}
xref: UMLS:C4755301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1659844"}
is_a: MONDO:0020122 {source="Orphanet:247724"} ! acquired idiopathic inflammatory myopathy

[Term]
id: MONDO:0016611
name: lipoblastoma
def: "A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient." [NCIT:P378]
subset: gard_rare {source="GARD:12015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247762"}
subset: orphanet_rare {source="Orphanet:247762"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "embryonic lipoma" EXACT [NCIT:C27483]
synonym: "fetal lipoma" EXACT [NCIT:C27483]
synonym: "foetal lipoma" EXACT OMO:0003005 []
synonym: "infantile lipoma" EXACT [NCIT:C27483]
xref: GARD:12015 {source="MONDO:GARD"}
xref: icd11.foundation:581420938 {source="Orphanet:247762", source="MONDO:equivalentTo"}
xref: MEDGEN:220362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D062689 {source="MONDO:equivalentTo"}
xref: NCIT:C27483 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:247762 {source="MONDO:equivalentTo"}
xref: SCTID:400102008 {source="GARD:0012015", source="MONDO:equivalentTo"}
xref: UMLS:C1260965 {source="MEDGEN:220362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006424 {source="Orphanet:247762"} ! soft tissue neoplasm
is_a: MONDO:0044983 {source="NCIT:C27483"} ! benign lipomatous neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma" xsd:anyURI {source="GARD:0012015"}

[Term]
id: MONDO:0016612
name: X-linked cerebellar ataxia
def: "X-linked form of cerebellar ataxia." [MONDO:patterns/x_linked]
subset: disease_grouping
subset: gard_rare {source="GARD:20665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:247765"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar ataxia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "hereditary ataxia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked hereditary ataxia" EXACT [MONDO:patterns/x_linked]
xref: DOID:0050953 {source="MONDO:equivalentTo"}
xref: DOID:0111828 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:20665 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:247765/inclusion", source="Orphanet:247765", source="Orphanet:247765/ntbt"}
xref: Orphanet:247765 {source="MONDO:equivalentTo"}
is_a: MONDO:0100309 ! hereditary ataxia
intersection_of: MONDO:0000437 ! cerebellar ataxia
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance

[Term]
id: MONDO:0016613
name: APC-related attenuated familial adenomatous polyposis
subset: gard_rare {source="GARD:17197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:247806"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "APC-related AFAP" EXACT [Orphanet:247806]
synonym: "APC-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL []
synonym: "APC-related attenuated familial polyposis coli" EXACT [Orphanet:247806]
synonym: "APC-related attenuated FAP" EXACT [Orphanet:247806]
xref: GARD:17197 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:247806", source="Orphanet:247806/attributed", source="Orphanet:247806/ntbt"}
xref: MEDGEN:1826008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:247806 {source="MONDO:equivalentTo"}
xref: UMLS:C5679615 {source="MONDO:equivalentTo", source="MEDGEN:1826008", source="MONDO:MEDGEN"}
is_a: MONDO:0016362 {source="Orphanet:247806"} ! attenuated familial adenomatous polyposis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 {source="https://orcid.org/0000-0001-5208-3432"} ! APC

[Term]
id: MONDO:0016614
name: autosomal recessive ataxia due to PEX10 deficiency
subset: gard_rare {source="GARD:20666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247815"}
subset: orphanet_rare {source="Orphanet:247815"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mild peroxismal disorder due to PEX10 deficiency" EXACT [Orphanet:247815]
xref: GARD:20666 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:247815", source="Orphanet:247815/attributed", source="Orphanet:247815/ntbt"}
xref: MEDGEN:1843173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:247815 {source="MONDO:equivalentTo"}
xref: UMLS:C5679614 {source="MEDGEN:1843173", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020044 {source="Orphanet:247815"} ! autosomal recessive metabolic cerebellar ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8851 {source="https://orcid.org/0000-0001-5208-3432"} ! PEX10

[Term]
id: MONDO:0016615
name: oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:247839"}
subset: rare
synonym: "oligoarticular JIA with anti-nuclear antibodies" EXACT [Orphanet:247839]
synonym: "pauciarticular chronic arthritis with anti-nuclear antibodies" EXACT [Orphanet:247839]
xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:247839", source="Orphanet:247839/ntbt"}
xref: Orphanet:247839 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019433 {source="Orphanet:247839"} ! oligoarticular juvenile idiopathic arthritis

[Term]
id: MONDO:0016616
name: oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:247846"}
subset: rare
synonym: "oligoarticular JIA without anti-nuclear antibodies" EXACT [Orphanet:247846]
synonym: "pauciarticular chronic arthritis without anti-nuclear antibodies" EXACT [Orphanet:247846]
xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:247846", source="Orphanet:247846/ntbt"}
xref: Orphanet:247846 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019433 {source="Orphanet:247846"} ! oligoarticular juvenile idiopathic arthritis

[Term]
id: MONDO:0016617
name: rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:247854"}
subset: rare
synonym: "juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies" EXACT [Orphanet:247854]
synonym: "polyarthritis without rheumatoid factor with anti-nuclear antibodies" EXACT [Orphanet:247854]
synonym: "rheumatoid factor-negative JIA with anti-nuclear antibodies" EXACT [Orphanet:247854]
xref: ICD10CM:M08.3 {source="Orphanet:247854/ntbt", source="Orphanet:247854"}
xref: Orphanet:247854 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019432 {source="Orphanet:247854"} ! rheumatoid factor-negative juvenile idiopathic arthritis
disjoint_from: MONDO:0016618 ! rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies

[Term]
id: MONDO:0016618
name: rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:247861"}
subset: rare
synonym: "juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies" EXACT [Orphanet:247861]
synonym: "polyarthritis without rheumatoid factor without anti-nuclear antibodies" EXACT [Orphanet:247861]
synonym: "rheumatoid factor-negative JIA without anti-nuclear antibodies" EXACT [Orphanet:247861]
xref: ICD10CM:M08.3 {source="Orphanet:247861", source="Orphanet:247861/ntbt"}
xref: Orphanet:247861 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019432 {source="Orphanet:247861"} ! rheumatoid factor-negative juvenile idiopathic arthritis

[Term]
id: MONDO:0016619
name: autosomal recessive hypohidrotic ectodermal dysplasia
def: "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations." [NCIT:C84580]
subset: gard_rare {source="GARD:2057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:248"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:248"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anhidrotic ectodermal dysplasia, autosomal recessive" RELATED [GARD:0002057]
synonym: "AR-HED" EXACT [Orphanet:248]
synonym: "autosomal recessive anhidrotic ectodermal dysplasia" EXACT [Orphanet:248]
synonym: "hypohidrotic ectodermal dysplasia autosomal recessive" RELATED [GARD:0002057]
synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:2057 {source="MONDO:GARD"}
xref: ICD10CM:Q82.4 {source="Orphanet:248/attributed", source="Orphanet:248/ntbt", source="Orphanet:248"}
xref: MEDGEN:96067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053360 {source="Orphanet:248", source="MONDO:equivalentTo", source="Orphanet:248/e"}
xref: NCIT:C84580 {source="MONDO:equivalentTo"}
xref: Orphanet:248 {source="MONDO:equivalentTo"}
xref: SCTID:27025001 {source="MONDO:equivalentTo"}
xref: UMLS:C0406702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96067"}
is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:248"} ! hypohidrotic ectodermal dysplasia
intersection_of: MONDO:0016535 ! hypohidrotic ectodermal dysplasia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2057/hypohidrotic-ectodermal-dysplasia-autosomal-recessive" xsd:anyURI {source="GARD:0002057"}

[Term]
id: MONDO:0016620
name: primary hypertrophic osteoarthropathy
def: "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy." [Orphanet:248095]
subset: disease_grouping
subset: gard_rare {source="GARD:20667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2796"}
subset: ordo_group_of_disorders {source="Orphanet:248095"}
subset: ordo_malformation_syndrome {source="Orphanet:2796"}
subset: orphanet_rare {source="Orphanet:2796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypertrophic osteoarthropathy, primary" EXACT [MONDO:0000183]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:259100]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:259100]
synonym: "hypertropic osteoarthropathy, primary" EXACT [OMIMPS:259100]
synonym: "idiopathic hypertrophic osteoarthropathy" EXACT [Orphanet:248095]
synonym: "pachydermoperiostosis" EXACT [MONDO:0009799]
synonym: "pachydermoperiostosis of nail" EXACT [DOID:14283]
synonym: "pachydermoperiostosis of nail [ambiguous]" EXACT [DOID:14283]
synonym: "pachydermoperiostosis syndrome" EXACT [DOID:14283]
synonym: "PDP" EXACT ABBREVIATION [Orphanet:2796]
synonym: "PHO" EXACT ABBREVIATION [Orphanet:248095]
synonym: "PHOAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259100]
synonym: "Touraine Solente Gole syndrome" EXACT [GARD:0007299]
synonym: "Touraine-Solente-Gole syndrome" EXACT [Orphanet:2796]
xref: DOID:14283 {source="MONDO:equivalentTo"}
xref: GARD:20667 {source="MONDO:GARD"}
xref: ICD10CM:M89.4 {source="Orphanet:2796/inclusion", source="Orphanet:2796/ntbt", source="DOID:14283", source="Orphanet:2796", source="Orphanet:248095", source="Orphanet:248095/attributed", source="Orphanet:248095/ntbt"}
xref: MedDRA:10051686 {source="Orphanet:2796", source="Orphanet:2796/e"}
xref: MEDGEN:18210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010004 {source="DOID:14283", source="MONDO:equivalentTo", source="Orphanet:248095", source="Orphanet:248095/e"}
xref: NANDO:1200642 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100288 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85023 {source="DOID:14283", source="MONDO:equivalentTo"}
xref: OMIMPS:259100 {source="MONDO:equivalentTo"}
xref: Orphanet:1525 {source="OMIM:259100"}
xref: Orphanet:248095 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:2796 {source="OMIM:259100", source="MONDO:equivalentTo"}
xref: SCTID:201124000 {source="DOID:14283"}
xref: SCTID:223726008 {source="DOID:14283"}
xref: SCTID:239052008 {source="DOID:14283"}
xref: SCTID:88220006 {source="DOID:14283", source="MONDO:equivalentTo"}
xref: UMLS:C0029411 {source="MEDGEN:18210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:14283"} ! syndromic disease
relationship: disease_has_feature HP:0011001 {source="Orphanet:248095"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:248095", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: excluded_subClassOf MONDO:0021154 {source="Orphanet:2796", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:259100"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3395" xsd:anyURI

[Term]
id: MONDO:0016621
name: juvenile Huntington disease
def: "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age." [Orphanet:248111]
subset: gard_rare {source="GARD:10510", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:248111"}
subset: orphanet_rare {source="Orphanet:248111"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Huntington disease, juvenile onset" RELATED [GARD:0010510]
synonym: "JHD" EXACT ABBREVIATION [Orphanet:248111]
synonym: "juvenile Huntington chorea" EXACT [Orphanet:248111]
synonym: "juvenile onset HD" RELATED [GARD:0010510]
xref: GARD:10510 {source="MONDO:GARD"}
xref: ICD10CM:G10 {source="Orphanet:248111/attributed", source="Orphanet:248111/ntbt", source="Orphanet:248111"}
xref: MEDGEN:155518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C147072 {source="MONDO:equivalentTo"}
xref: Orphanet:248111 {source="MONDO:equivalentTo"}
xref: SCTID:230299004 {source="MONDO:equivalentTo"}
xref: UMLS:C0751208 {source="MEDGEN:155518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007739 {source="NCIT:C147072"} ! Huntington disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease" xsd:anyURI {source="GARD:0010510"}

[Term]
id: MONDO:0016622
name: Melhem-Fahl syndrome
def: "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." [Orphanet:2482]
subset: gard_rare {source="GARD:3462", source="MONDO:GARD"}
subset: n_of_one
subset: ordo_disorder {source="Orphanet:2482"}
subset: ordo_malformation_syndrome {source="Orphanet:2482"}
subset: orphanet_rare {source="Orphanet:2482"}
subset: rare
synonym: "fifteen dorsal vertebrae and rib pairs" RELATED [GARD:0003462]
synonym: "Melhem Fahl syndrome" RELATED [GARD:0003462]
xref: GARD:3462 {source="MONDO:GARD"}
xref: ICD10CM:Q76.4 {source="Orphanet:2482/attributed", source="Orphanet:2482/ntbt", source="Orphanet:2482"}
xref: MEDGEN:444059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537238 {source="Orphanet:2482/e", source="MONDO:equivalentTo", source="Orphanet:2482"}
xref: Orphanet:2482 {source="MONDO:equivalentTo"}
xref: SCTID:732263008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931453 {source="MEDGEN:444059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:3969298", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome" xsd:anyURI {source="GARD:0003462"}

[Term]
id: MONDO:0016623
name: obsolete rare deficiency anemia
def: "OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248293"}
synonym: "rare deficiency anemia" EXACT [MONDO:patterns/rare]
xref: GARD:20668 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248293 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001639

[Term]
id: MONDO:0016624
name: inherited deficiency anemia
subset: disease_grouping
subset: gard_rare {source="GARD:20669", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:248296"}
subset: rare
synonym: "constitutional rare deficiency anaemia" EXACT OMO:0003005 []
synonym: "constitutional rare deficiency anemia" EXACT [Orphanet:248296]
xref: GARD:20669 {source="MONDO:GARD"}
xref: MEDGEN:1842172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:248296 {source="MONDO:equivalentTo"}
xref: UMLS:C5680695 {source="MEDGEN:1842172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001639 {source="MONDO:Redundant", source="Orphanet:248296"} ! deficiency anemia
intersection_of: MONDO:0001639 ! deficiency anemia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972", source="MONDO:0016623"} ! rare

[Term]
id: MONDO:0016625
name: acquired deficiency anemia
def: "An instance of deficiency anemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:248302"}
subset: rare
synonym: "rare acquired deficiency anaemia" EXACT OMO:0003005 []
synonym: "rare acquired deficiency anemia" EXACT [Orphanet:248302]
xref: MEDGEN:1842907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:248302 {source="MONDO:equivalentTo"}
xref: UMLS:C5680693 {source="MEDGEN:1842907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001639 {source="Orphanet:248302"} ! deficiency anemia
intersection_of: MONDO:0001639 ! deficiency anemia
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016623"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI

[Term]
id: MONDO:0016626
name: obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
comment: Reason: out of scope. Obsoleted in Orphanet. Term to consider: None
xref: ICD10CM:D55.2 {source="Orphanet:248305/attributed", source="Orphanet:248305/ntbt", source="Orphanet:248305"}
xref: Orphanet:248305 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4398" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016627
name: obsolete rare hemorrhagic disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248308"}
synonym: "rare bleeding disorder" EXACT [Orphanet:248308]
synonym: "rare coagulopathy" EXACT [Orphanet:248308]
xref: GARD:20671 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248308 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002243

[Term]
id: MONDO:0016628
name: obsolete hemorrhagic disorder due to a coagulation factors defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemorrhagic disease'
subset: ordo_group_of_disorders {source="Orphanet:248315"}
synonym: "rare bleeding disorder due to a coagulation factors defect" NARROW [Orphanet:248315]
synonym: "rare coagulopathy due to a coagulation factor defect" NARROW [Orphanet:248315]
xref: GARD:20672 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248315 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002243

[Term]
id: MONDO:0016629
name: obsolete hemorrhagic disorder due to a platelet anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248326"}
synonym: "rare bleeding disorder due to a platelet anomaly" EXACT [Orphanet:248326]
synonym: "rare bleeding disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326]
synonym: "rare coagulopathy due to a platelet anomaly" EXACT [Orphanet:248326]
synonym: "rare coagulopathy due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326]
synonym: "rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326]
xref: GARD:20673 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248326 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0002243

[Term]
id: MONDO:0016630
name: isolated delta-storage pool disease
def: "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery." [Orphanet:248340]
subset: gard_rare {source="GARD:20674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:248340"}
subset: orphanet_rare {source="Orphanet:248340"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated delta-SPD" EXACT [Orphanet:248340]
synonym: "isolated dense-SPD" EXACT [Orphanet:248340]
synonym: "isolated dense-storage pool disease" EXACT [Orphanet:248340]
xref: GARD:20674 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:248340", source="Orphanet:248340/attributed", source="Orphanet:248340/ntbt"}
xref: Orphanet:248340 {source="MONDO:equivalentTo"}
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0100241 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited thrombocytopenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI

[Term]
id: MONDO:0016631
name: obsolete hemorrhagic disorder due to an acquired platelet anomaly
def: "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth." [https://orcid.org/0000-0001-5208-3432]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248347"}
synonym: "rare bleeding disorder due to an acquired platelet anomaly" EXACT [Orphanet:248347]
synonym: "rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347]
synonym: "rare coagulopathy due to an acquired platelet anomaly" EXACT [Orphanet:248347]
synonym: "rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347]
synonym: "rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347]
xref: GARD:20675 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248347 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016632
name: obsolete thrombotic disorder due to a coagulation factors defect
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248358"}
xref: GARD:20676 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248358 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0000831

[Term]
id: MONDO:0016633
name: obsolete thrombotic disorder due to a constitutional coagulation factors defect
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248361"}
xref: GARD:20677 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248361 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016634
name: obsolete thrombotic disorder due to an acquired coagulation factors defect
def: "OBSOLETE. An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248365"}
synonym: "acquired rare thrombotic disorder due to a coagulation factors defect" EXACT [MONDO:patterns/acquired]
xref: GARD:20678 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248365 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016635
name: obsolete thrombotic disorder due to a platelet anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248368"}
xref: GARD:20679 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248368 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0000831

[Term]
id: MONDO:0016636
name: obsolete thrombotic disorder due to a constitutional platelet anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248401"}
xref: GARD:20680 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248401 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016637
name: obsolete thrombotic disorder due to an acquired platelet anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:248404"}
xref: GARD:20681 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:248404 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016638
name: familial hypodysfibrinogenemia
subset: gard_rare {source="GARD:17202", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:248408"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17202 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:248408", source="Orphanet:248408/attributed", source="Orphanet:248408/ntbt"}
xref: MEDGEN:347987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:248408 {source="MONDO:equivalentTo"}
xref: UMLS:C1859970 {source="MEDGEN:347987", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008737 ! congenital afibrinogenemia

[Term]
id: MONDO:0016639
name: lower limb deficiency-hypospadias syndrome
def: "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." [Orphanet:2487]
subset: gard_rare {source="GARD:18773", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2487"}
subset: ordo_malformation_syndrome {source="Orphanet:2487"}
subset: orphanet_rare {source="Orphanet:2487"}
subset: rare
synonym: "Fried-Goldberg-Mundel syndrome" EXACT [Orphanet:2487]
synonym: "lower limb malformation-hypospadias syndrome" RELATED [Orphanet:2487]
xref: GARD:18773 {source="MONDO:GARD"}
xref: MEDGEN:418952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535640 {source="MONDO:equivalentTo"}
xref: Orphanet:2487 {source="MONDO:equivalentTo"}
xref: UMLS:C2930962 {source="MEDGEN:418952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016640
name: obsolete fibrous dysplasia of bone
comment: Appears to be same concept as MONDO:0000845, fibrous dysplasia.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2462" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000845

[Term]
id: MONDO:0016641
name: limb transversal defect-cardiac anomaly syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2492"}
subset: ordo_malformation_syndrome {source="Orphanet:2492"}
subset: orphanet_rare {source="Orphanet:2492"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hecht-Scott syndrome" EXACT [Orphanet:2492]
xref: ICD10CM:Q87.2 {source="Orphanet:2492/attributed", source="Orphanet:2492/ntbt", source="Orphanet:2492"}
xref: MEDGEN:419705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535856 {source="MONDO:equivalentTo"}
xref: Orphanet:2492 {source="MONDO:equivalentTo"}
xref: UMLS:C2931047 {source="MEDGEN:419705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016642
name: meningioma
def: "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" [NCIT:C3230]
subset: gard_rare {source="GARD:7015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1434"}
subset: ordo_disorder {source="Orphanet:2495"}
subset: orphanet_rare {source="Orphanet:2495"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intracranial meningioma" RELATED [DOID:3565]
synonym: "meningeal neoplasm" RELATED [DOID:3565]
synonym: "meningioma" EXACT [MONDO:ambiguous, NCIT:C3230]
synonym: "meningioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "meningioma, NOS" RELATED EXCLUDE [NCIT:C3230]
synonym: "meningothelial cell tumor" RELATED [DOID:3565]
synonym: "meningothelial cell tumour" RELATED OMO:0003005 []
synonym: "neoplasm of the meninges" RELATED EXCLUDE [DOID:3565]
synonym: "primary meningeal tumor" RELATED [DOID:3565]
synonym: "primary meningeal tumour" RELATED OMO:0003005 []
synonym: "supratentorial meningioma" RELATED [DOID:3565]
xref: DOID:3565 {source="MONDO:equivalentTo"}
xref: GARD:7015 {source="MONDO:GARD"}
xref: HP:0002858 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D32.9 {source="Orphanet:2495", source="Orphanet:2495/ntbt", source="DOID:3565"}
xref: icd11.foundation:672106711 {source="Orphanet:2495", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9530/0 {source="NCIT:C3230"}
xref: MedDRA:10027191 {source="Orphanet:2495", source="Orphanet:2495/e"}
xref: MEDGEN:7532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008577 {source="DOID:3565"}
xref: MESH:D008579 {source="Orphanet:2495", source="DOID:3565", source="MONDO:equivalentTo", source="Orphanet:2495/e"}
xref: NANDO:2200094 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3229 {source="DOID:3565"}
xref: NCIT:C3230 {source="DOID:3565", source="MONDO:equivalentTo"}
xref: NCIT:C4656 {source="DOID:3565"}
xref: NCIT:C6971 {source="DOID:3565"}
xref: NCIT:C7048 {source="DOID:3565"}
xref: NORD:1434 {source="MONDO:NORD"}
xref: ONCOTREE:MNG {source="MONDO:equivalentTo"}
xref: Orphanet:2495 {source="MONDO:equivalentTo"}
xref: SCTID:126965008 {source="DOID:3565"}
xref: SCTID:127579001 {source="DOID:3565"}
xref: SCTID:134307003 {source="DOID:3565"}
xref: SCTID:154621002 {source="DOID:3565"}
xref: SCTID:189940004 {source="DOID:3565"}
xref: SCTID:189941000 {source="DOID:3565"}
xref: SCTID:189945009 {source="DOID:3565"}
xref: SCTID:269643009 {source="DOID:3565"}
xref: SCTID:302820008 {source="DOID:3565", source="MONDO:equivalentTo"}
xref: SCTID:393566004 {source="DOID:3565"}
xref: UMLS:C0025286 {source="MEDGEN:7532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016743 {source="NCIT:C3230", source="ONCOTREE:MNG", source="Orphanet:2495"} ! tumor of meninges
property_value: IAO:0000589 "meningioma (disease)" xsd:string

[Term]
id: MONDO:0016643
name: frontonasal dysplasia
def: "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement." [Orphanet:250]
subset: disease_grouping
subset: gard_rare {source="GARD:2392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1165"}
subset: ordo_group_of_disorders {source="Orphanet:250"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FND1" NARROW ABBREVIATION [NCIT:C129028]
synonym: "frontonasal dysplasia 1" NARROW [NCIT:C129028]
synonym: "median cleft face syndrome" EXACT [Orphanet:250]
synonym: "median cleft syndrome" RELATED [GARD:0002392]
xref: DOID:0081044 {source="MONDO:equivalentTo"}
xref: GARD:2392 {source="MONDO:GARD"}
xref: ICD10CM:Q75.8 {source="Orphanet:250", source="Orphanet:250/attributed", source="Orphanet:250/ntbt"}
xref: MEDGEN:406292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538065 {source="MONDO:equivalentTo", source="Orphanet:250", source="Orphanet:250/e"}
xref: NCIT:C129028
xref: NORD:1165 {source="MONDO:NORD"}
xref: OMIMPS:136760 {source="MONDO:equivalentTo"}
xref: Orphanet:250 {source="MONDO:equivalentTo"}
xref: SCTID:86610004 {source="MONDO:equivalentTo"}
xref: UMLS:C1876203 {source="MONDO:equivalentTo", source="MEDGEN:406292", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="Orphanet:250"} ! dysostosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:136760"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016644
name: logopenic progressive aphasia
def: "Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge." [Orphanet:250831]
subset: gard_rare {source="GARD:10791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:250831"}
subset: orphanet_rare {source="Orphanet:250831"}
subset: rare
synonym: "Logopenic primary progressive aphasia" EXACT [Orphanet:250831]
synonym: "Logopenic variant PPA" EXACT [Orphanet:250831]
synonym: "LPA" EXACT ABBREVIATION [Orphanet:250831]
xref: DOID:0081389 {source="MONDO:equivalentTo"}
xref: GARD:10791 {source="MONDO:GARD"}
xref: ICD10CM:G31.0 {source="Orphanet:250831", source="Orphanet:250831/ntbt"}
xref: MEDGEN:907332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:250831 {source="MONDO:equivalentTo"}
xref: SCTID:716380002 {source="MONDO:equivalentTo"}
xref: UMLS:C4274665 {source="MEDGEN:907332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019806 {source="Orphanet:250831"} ! primary progressive aphasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia" xsd:anyURI {source="GARD:0010791"}

[Term]
id: MONDO:0016645
name: obsolete rare neoplastic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:250908"}
xref: GARD:22535 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:250908 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0023370

[Term]
id: MONDO:0016646
name: autosomal dominant optic atrophy and peripheral neuropathy
def: "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." [Orphanet:250932]
subset: gard_rare {source="GARD:20686", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:250932"}
subset: orphanet_rare {source="Orphanet:250932"}
subset: rare
xref: GARD:20686 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:250932/attributed", source="Orphanet:250932/ntbt", source="Orphanet:250932"}
xref: MEDGEN:895207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:250932 {source="MONDO:equivalentTo"}
xref: UMLS:C4273829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895207"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020250 {source="Orphanet:250932"} ! autosomal dominant optic atrophy
relationship: has_characteristic HP:0000006 {source="Orphanet:250932"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0016647
name: obsolete autosomal recessive Stickler syndrome
def: "OBSOLETE. A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed." [Orphanet:250984]
subset: ordo_subtype_of_a_disorder {source="Orphanet:250984"}
subset: otar {source="MONDO:OTAR"}
synonym: "Stickler syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:17203 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.5 {source="Orphanet:250984/attributed", source="Orphanet:250984/ntbt", source="Orphanet:250984"}
xref: Orphanet:250984 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016648
name: multiple epiphyseal dysplasia
def: "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6." [Orphanet:251]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:10756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1468"}
subset: ordo_group_of_disorders {source="Orphanet:251"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dominant Multiple Epiphyseal Dysplasia" EXACT [NORD:1468]
synonym: "EDM" EXACT ABBREVIATION [Orphanet:251]
synonym: "epiphyseal dysplasia, multiple" RELATED [GARD:0010756, OMIMPS:132400]
synonym: "MED" EXACT ABBREVIATION [Orphanet:251]
synonym: "multiple epiphyseal dysplasia" EXACT CLINGEN_LABEL [MONDO:ambiguous]
synonym: "multiple epiphyseal dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Polyepiphyseal dysplasia" EXACT [Orphanet:251]
synonym: "polyepiphyseal dysplasia" EXACT [DOID:12721]
xref: DOID:12721 {source="MONDO:equivalentTo"}
xref: GARD:10756 {source="MONDO:GARD"}
xref: HP:0002654 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:251/ntbt", source="Orphanet:251", source="Orphanet:251/index"}
xref: icd11.foundation:2009123831 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:251"}
xref: ICD9:756.56 {source="DOID:12721", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10028197 {source="Orphanet:251/e", source="Orphanet:251"}
xref: MEDGEN:6461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010009 {source="DOID:12721"}
xref: NORD:1468 {source="MONDO:NORD"}
xref: OMIMPS:132400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:251 {source="DOID:12721", source="MONDO:equivalentTo"}
xref: SCTID:205504001 {source="DOID:12721"}
xref: SCTID:59708000 {source="DOID:12721", source="MONDO:equivalentTo"}
xref: UMLS:C0026760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6461"}
is_a: MONDO:0005516 {source="DOID:12721"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: disease_has_feature HP:0002829 ! Arthralgia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:132400"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000589 "multiple epiphyseal dysplasia (disease)" xsd:string

[Term]
id: MONDO:0016649
name: Warburg micro syndrome
def: "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism." [Orphanet:2510]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5534", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1898"}
subset: ordo_disorder {source="Orphanet:2510"}
subset: ordo_malformation_syndrome {source="Orphanet:2510"}
subset: orphanet_rare {source="Orphanet:2510"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "micro syndrome" EXACT [DOID:0060237]
synonym: "microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism" RELATED [GARD:0005534]
synonym: "microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism" RELATED DEPRECATED [GARD:0005534]
synonym: "WARBM" EXACT ABBREVIATION [DOID:0060237, Orphanet:2510]
synonym: "Warburg micro syndrome" EXACT [Orphanet:2510]
synonym: "Warburg-Sjo-Fledelius syndrome" EXACT [DOID:0060237]
xref: DOID:0060237 {source="MONDO:equivalentTo"}
xref: GARD:5534 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2510/attributed", source="Orphanet:2510/ntbt", source="Orphanet:2510"}
xref: MEDGEN:1781286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536681 {source="DOID:0060237"}
xref: NORD:1898 {source="MONDO:NORD"}
xref: OMIMPS:600118 {source="DOID:0060237", source="MONDO:equivalentTo"}
xref: Orphanet:2510 {source="DOID:0060237", source="MONDO:equivalentTo"}
xref: UMLS:C5442005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781286"}
is_a: MONDO:0006025 {source="DOID:0060237", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015159 {source="Orphanet:2510"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016073 {source="Orphanet:2510"} ! syndromic microphthalmia
is_a: MONDO:0018838 {source="MONDO:0015147-obsoleted"} ! lissencephaly spectrum disorders
is_a: MONDO:0700247 {source="https://www.clinicalgenome.org/affiliation/40020/", source="https://www.ncbi.nlm.nih.gov/books/NBK475670/"} ! RAB18 deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2510", source="Orphanet:2510/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000007 {source="Orphanet:2510"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600118"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6942" xsd:anyURI

[Term]
id: MONDO:0016650
name: paternal uniparental disomy of chromosome 1
def: "Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:251004]
subset: gard_rare {source="GARD:20688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251004"}
subset: ordo_malformation_syndrome {source="Orphanet:251004"}
subset: orphanet_rare {source="Orphanet:251004"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251004]
synonym: "UPD(1)pat" EXACT [Orphanet:251004]
xref: GARD:20688 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:251004", source="Orphanet:251004/attributed", source="Orphanet:251004/ntbt"}
xref: MEDGEN:1636519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251004 {source="MONDO:equivalentTo"}
xref: SCTID:766719006 {source="MONDO:equivalentTo"}
xref: UMLS:C4707800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636519"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr1 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 1 (Human)

[Term]
id: MONDO:0016651
name: maternal uniparental disomy of chromosome 1
def: "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:251009]
subset: gard_rare {source="GARD:20689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251009"}
subset: ordo_malformation_syndrome {source="Orphanet:251009"}
subset: orphanet_rare {source="Orphanet:251009"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251009]
synonym: "UPD(1)mat" EXACT [Orphanet:251009]
xref: GARD:20689 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:251009/attributed", source="Orphanet:251009/ntbt", source="Orphanet:251009"}
xref: MEDGEN:1665577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251009 {source="MONDO:equivalentTo"}
xref: UMLS:C4749302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1665577"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr1 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 1 (Human)

[Term]
id: MONDO:0016652
name: 2q31.1 microdeletion syndrome
def: "2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." [Orphanet:251014]
subset: gard_rare {source="GARD:20690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251014"}
subset: ordo_malformation_syndrome {source="Orphanet:251014"}
subset: orphanet_rare {source="Orphanet:251014"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(2)(q31.1)" EXACT [Orphanet:251014]
synonym: "monosomy 2q31.1" EXACT [Orphanet:251014]
xref: GARD:20690 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:251014", source="Orphanet:251014/attributed", source="Orphanet:251014/ntbt"}
xref: MEDGEN:899856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251014 {source="MONDO:equivalentTo"}
xref: SCTID:716387004 {source="MONDO:equivalentTo"}
xref: UMLS:C4274647 {source="MONDO:equivalentTo", source="MEDGEN:899856", source="MONDO:MEDGEN"}
is_a: MONDO:0016901 {source="Orphanet:251014"} ! partial deletion of the long arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2q31.1 ! 2q31.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016653
name: 2q33.1 microdeletion syndrome
def: "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated." [Orphanet:251028]
subset: gard_rare {source="GARD:17204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:251028"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251028"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(2)(q33.1)" EXACT [Orphanet:251028]
synonym: "monosomy 2q33.1" EXACT [Orphanet:251028]
xref: DECIPHER:51 {source="MONDO:equivalentTo"}
xref: GARD:17204 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:251028/attributed", source="Orphanet:251028/ntbt", source="Orphanet:251028"}
xref: MEDGEN:1645054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251028 {source="MONDO:equivalentTo"}
xref: SCTID:763062006 {source="MONDO:equivalentTo"}
xref: UMLS:C4706258 {source="MEDGEN:1645054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016901 {source="Orphanet:251028"} ! partial deletion of the long arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2q33.1 ! 2q33.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016654
name: ring chromosome 5
def: "Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges)." [Orphanet:251043]
subset: gard_rare {source="GARD:10841", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251043"}
subset: ordo_malformation_syndrome {source="Orphanet:251043"}
subset: orphanet_rare {source="Orphanet:251043"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 5 ring" RELATED [GARD:0010841]
synonym: "R5" RELATED ABBREVIATION [GARD:0010841]
synonym: "Ring 5" RELATED [GARD:0010841]
synonym: "Ring chromosome 5 syndrome" RELATED [Orphanet:251043]
synonym: "Ring chromosome type 5" EXACT [MONDORULE:1, Orphanet:251043]
synonym: "rose cluster 5" EXACT [NCIT:C121984]
xref: GARD:10841 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:251043", source="Orphanet:251043/attributed", source="Orphanet:251043/ntbt"}
xref: MEDGEN:881956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121984 {source="MONDO:equivalentTo"}
xref: Orphanet:251043 {source="MONDO:equivalentTo"}
xref: SCTID:765487008 {source="MONDO:equivalentTo"}
xref: UMLS:C4050064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:881956"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr5 ! chromosome 5 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5" xsd:anyURI {source="GARD:0010841"}

[Term]
id: MONDO:0016655
name: 6p22 microdeletion syndrome
def: "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." [Orphanet:251046]
subset: gard_rare {source="GARD:20691", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251046"}
subset: ordo_malformation_syndrome {source="Orphanet:251046"}
subset: orphanet_rare {source="Orphanet:251046"}
subset: rare
synonym: "Del(6)(p22)" EXACT [Orphanet:251046]
synonym: "monosomy 6p22" EXACT [Orphanet:251046]
xref: GARD:20691 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:251046", source="Orphanet:251046/attributed", source="Orphanet:251046/ntbt"}
xref: MEDGEN:930197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251046 {source="MONDO:equivalentTo"}
xref: SCTID:719662000 {source="MONDO:equivalentTo"}
xref: UMLS:C4304528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930197"}
is_a: MONDO:0016888 {source="Orphanet:251046"} ! partial deletion of the short arm of chromosome 6
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr6p22 ! 6p22 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016656
name: 7q31 microdeletion syndrome
subset: gard_rare {source="GARD:20692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251061"}
subset: ordo_malformation_syndrome {source="Orphanet:251061"}
subset: orphanet_rare {source="Orphanet:251061"}
subset: rare
synonym: "Del(7)(q31)" EXACT [Orphanet:251061]
synonym: "monosomy 7q31" EXACT [Orphanet:251061]
xref: GARD:20692 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:251061/attributed", source="Orphanet:251061/ntbt", source="Orphanet:251061"}
xref: MEDGEN:1664416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251061 {source="MONDO:equivalentTo"}
xref: UMLS:C4750783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1664416"}
is_a: MONDO:0016906 {source="Orphanet:251061"} ! partial deletion of the long arm of chromosome 7
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr7q31 ! 7q31 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016657
name: 8p11.2 deletion syndrome
def: "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." [Orphanet:251066]
subset: gard_rare {source="GARD:20693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251066"}
subset: ordo_malformation_syndrome {source="Orphanet:251066"}
subset: orphanet_rare {source="Orphanet:251066"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(8)(p11.2)" EXACT [Orphanet:251066]
synonym: "monosomy 8p11.2" EXACT [Orphanet:251066]
xref: GARD:20693 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:251066/attributed", source="Orphanet:251066/ntbt", source="Orphanet:251066"}
xref: MEDGEN:930174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251066 {source="MONDO:equivalentTo"}
xref: SCTID:719646006 {source="MONDO:equivalentTo"}
xref: UMLS:C4304505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930174"}
is_a: MONDO:0016890 {source="Orphanet:251066"} ! partial deletion of the short arm of chromosome 8
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8p11.2 ! 8p11.2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016658
name: 8p23.1 microdeletion syndrome
def: "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." [Orphanet:251071]
subset: gard_rare {source="GARD:3769", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251071"}
subset: ordo_malformation_syndrome {source="Orphanet:251071"}
subset: orphanet_rare {source="Orphanet:251071"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "8p23.1 deletion" RELATED [GARD:0003769]
synonym: "chromosome 8p23.1 deletion" RELATED [GARD:0003769]
synonym: "Del(8)(p23.1)" EXACT [Orphanet:251071]
synonym: "deletion 8p23.1" RELATED [GARD:0003769]
synonym: "monosomy 8p23.1" EXACT [Orphanet:251071]
xref: DECIPHER:39 {source="MONDO:equivalentTo"}
xref: GARD:3769 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:251071/attributed", source="Orphanet:251071/ntbt", source="Orphanet:251071"}
xref: MEDGEN:419458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537827 {source="MONDO:equivalentTo"}
xref: Orphanet:251071 {source="MONDO:equivalentTo"}
xref: SCTID:716381003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931638 {source="MEDGEN:419458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0016890 {source="Orphanet:251071"} ! partial deletion of the short arm of chromosome 8
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8p23.1 ! 8p23.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0016659
name: 8p23.1 duplication syndrome
def: "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)." [Orphanet:251076]
subset: gard_rare {source="GARD:10304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251076"}
subset: ordo_malformation_syndrome {source="Orphanet:251076"}
subset: orphanet_rare {source="Orphanet:251076"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dup(8)(p23.1p23.1)" EXACT [Orphanet:251076]
synonym: "trisomy 8p23.1" EXACT [Orphanet:251076]
xref: DECIPHER:85 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: GARD:10304 {source="MONDO:GARD"}
xref: MEDGEN:1645138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251076 {source="MONDO:equivalentTo"}
xref: SCTID:765140006 {source="MONDO:equivalentTo"}
xref: UMLS:C4707330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645138"}
is_a: MONDO:0016945 {source="Orphanet:251076"} ! partial duplication of the short arm of chromosome 8
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr8p23.1 ! 8p23.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6311" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome" xsd:anyURI {source="GARD:0010304"}

[Term]
id: MONDO:0016660
name: autosomal recessive primary microcephaly
def: "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." [Orphanet:2512]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12117", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:2512"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2512"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCPH" EXACT ABBREVIATION [Orphanet:2512]
synonym: "microcephalia vera" EXACT [Orphanet:2512]
synonym: "microcephaly vera" EXACT [Orphanet:2512]
synonym: "microcephaly, primary autosomal recessive" EXACT [OMIMPS:251200]
synonym: "microcephaly, primary, autosomal recessive" EXACT [MONDO:0000061]
synonym: "true microcephaly" BROAD [Orphanet:2512]
xref: DOID:0070296 {source="MONDO:equivalentTo"}
xref: GARD:12117 {source="MONDO:GARD"}
xref: ICD10CM:Q02 {source="Orphanet:2512", source="Orphanet:2512/attributed", source="Orphanet:2512/ntbt"}
xref: MEDGEN:777995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579935 {source="MONDO:equivalentTo"}
xref: OMIMPS:251200 {source="MONDO:equivalentTo"}
xref: Orphanet:2512 {source="MONDO:equivalentTo"}
xref: SCTID:715981004 {source="MONDO:equivalentTo"}
xref: UMLS:C3711387 {source="MEDGEN:777995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016056 {source="Orphanet:2512"} ! isolated congenital microcephaly
intersection_of: MONDO:0016056 ! isolated congenital microcephaly
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:251200"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly" xsd:anyURI {source="GARD:0012117"}

[Term]
id: MONDO:0016661
name: infantile onset panniculitis with uveitis and systemic granulomatosis
subset: gard_rare {source="GARD:20694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251304"}
subset: orphanet_rare {source="Orphanet:251304"}
subset: rare
xref: GARD:20694 {source="MONDO:GARD"}
xref: ICD10CM:M08.8 {source="Orphanet:251304", source="Orphanet:251304/ntbt"}
xref: MEDGEN:1670295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251304 {source="MONDO:equivalentTo"}
xref: UMLS:C4750785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670295"}
is_a: MONDO:0019751 ! autoinflammatory syndrome
relationship: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0016662
name: idiopathic recurrent pericarditis
def: "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." [Orphanet:251307]
subset: gard_rare {source="GARD:20695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251307"}
subset: orphanet_rare {source="Orphanet:251307"}
subset: rare
synonym: "idiopathic relapsing pericarditis" EXACT [Orphanet:251307]
xref: GARD:20695 {source="MONDO:GARD"}
xref: ICD10CM:I09.2 {source="MONDO:relatedTo", source="Orphanet:251307/ntbt", source="Orphanet:251307"}
xref: MEDGEN:1642945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251307 {source="MONDO:equivalentTo"}
xref: SCTID:766704005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707790 {source="MEDGEN:1642945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019751 {source="Orphanet:251307", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome
relationship: has_characteristic MONDO:0700005 {source="Orphanet:251307"} ! idiopathic

[Term]
id: MONDO:0016663
name: overlapping connective tissue disease
subset: disease_grouping
subset: gard_rare {source="GARD:20696", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:251312"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20696 {source="MONDO:GARD"}
xref: ICD10CM:M35.1 {source="Orphanet:251312", source="Orphanet:251312/e"}
xref: MedDRA:10027754 {source="Orphanet:251312", source="Orphanet:251312/e"}
xref: Orphanet:251312 {source="MONDO:equivalentTo"}
is_a: MONDO:0003900 {source="PMID:22743033"} ! connective tissue disorder
is_a: MONDO:0007179 {source="Orphanet:251312"} ! autoimmune disease

[Term]
id: MONDO:0016664
name: drug-induced vasculitis
def: "A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations." [NCIT:P378]
subset: gard_rare {source="GARD:20697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251325"}
subset: orphanet_rare {source="Orphanet:251325"}
subset: rare
synonym: "drug induced cutaneous vasculitis" EXACT [NCIT:C112204]
synonym: "drug induced vasculitis" EXACT [NCIT:C112204]
xref: GARD:20697 {source="MONDO:GARD"}
xref: ICD10CM:M31.8 {source="Orphanet:251325/ntbt", source="Orphanet:251325"}
xref: icd11.foundation:395268449 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:251325"}
xref: MEDGEN:573879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C112204 {source="MONDO:equivalentTo"}
xref: Orphanet:251325 {source="MONDO:equivalentTo"}
xref: UMLS:C0340672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573879"}
is_a: MONDO:0018640 {source="MONDO:Redundant", source="Orphanet:251325"} ! secondary vasculitis
is_a: MONDO:0018882 {source="https://orcid.org/0000-0002-3458-4839"} ! vasculitis
intersection_of: MONDO:0018640 ! secondary vasculitis
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0016665
name: obsolete unclassified vasculitis
subset: ordo_disorder {source="Orphanet:251328"}
xref: GARD:20698 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:M31.8 {source="Orphanet:251328/ntbt", source="Orphanet:251328"}
xref: Orphanet:251328 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0018882

[Term]
id: MONDO:0016666
name: unexplained long-lasting fever/inflammatory syndrome
subset: gard_rare {source="GARD:20699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251332"}
subset: orphanet_rare {source="Orphanet:251332"}
subset: rare
xref: GARD:20699 {source="MONDO:GARD"}
xref: MEDGEN:1842329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251332 {source="MONDO:equivalentTo"}
xref: UMLS:C5679630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842329"}
is_a: MONDO:0005554 {source="Orphanet:251332"} ! rheumatic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3570" xsd:anyURI

[Term]
id: MONDO:0016667
name: obsolete sickle cell disease associated with an other hemoglobin anomaly
subset: ordo_group_of_disorders {source="Orphanet:251355"}
synonym: "Double heterozygotes sickling disorder" EXACT [Orphanet:251355]
xref: GARD:12459 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D57.2 {source="Orphanet:251355", source="Orphanet:251355/specific", source="Orphanet:251355/e"}
xref: Orphanet:251355 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12459/sickle-cell-disease-associated-with-an-other-hemoglobin-anomaly" xsd:anyURI {source="GARD:0012459"}
is_obsolete: true

[Term]
id: MONDO:0016668
name: sickle cell-beta-thalassemia disease syndrome
def: "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person." [GARD:0010333]
subset: gard_rare {source="GARD:10333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251359"}
subset: orphanet_rare {source="Orphanet:251359"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Haemoglobin sickle-beta thalassemia" RELATED OMO:0003005 []
synonym: "Hb S beta-thalassemia" RELATED [GARD:0010333]
synonym: "Hb S-Beta thalassemia" EXACT [NCIT:C95539]
synonym: "HbS - beta-thalassemia" RELATED [GARD:0010333]
synonym: "HbS-beta-thalassemia syndrome" EXACT [GARD:0010333, Orphanet:251359]
synonym: "Hemoglobin sickle-beta thalassemia" RELATED [GARD:0010333]
synonym: "S-Beta thalassemia" EXACT [NCIT:C95539]
synonym: "sickle beta thalassemia" RELATED [GARD:0010333]
synonym: "sickle cell - beta-thalassemia disease" RELATED [GARD:0010333]
synonym: "sickle cell-Beta thalassemia" EXACT [NCIT:C95539]
synonym: "sickle cell-Beta-thalassemia" EXACT [NCIT:C95539]
synonym: "sickle cell-beta-thalassemia disease syndrome" EXACT [GARD:0010333]
xref: GARD:10333 {source="MONDO:GARD"}
xref: ICD10CM:D57.2 {source="Orphanet:251359/inclusion", source="Orphanet:251359", source="Orphanet:251359/ntbt"}
xref: MedDRA:10040655 {source="Orphanet:251359/e", source="Orphanet:251359"}
xref: MedDRA:10055579 {source="Orphanet:251359/e", source="Orphanet:251359"}
xref: NCIT:C95539 {source="MONDO:equivalentTo"}
xref: Orphanet:251359 {source="GARD:0010333", source="MONDO:equivalentTo"}
xref: SCTID:127041004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0019050 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited hemoglobinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia" xsd:anyURI {source="GARD:0010333"}

[Term]
id: MONDO:0016669
name: sickle cell-hemoglobin c disease syndrome
def: "A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis." [Orphanet:251365]
subset: gard_rare {source="GARD:6584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251365"}
subset: orphanet_rare {source="Orphanet:251365"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HbSC disease" EXACT [Orphanet:251365]
synonym: "sickle cell - haemoglobin C disease" RELATED OMO:0003005 []
synonym: "sickle cell - hemoglobin C disease" RELATED [GARD:0006584]
xref: GARD:6584 {source="MONDO:GARD"}
xref: ICD10CM:D57.2 {source="Orphanet:251365/inclusion", source="Orphanet:251365", source="Orphanet:251365/ntbt"}
xref: MedDRA:10057072 {source="Orphanet:251365", source="Orphanet:251365/e"}
xref: MEDGEN:5496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251365 {source="MONDO:equivalentTo"}
xref: UMLS:C0019034 {source="MEDGEN:5496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0011382 {source="https://orcid.org/0000-0002-5002-8648"} ! sickle cell anemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI

[Term]
id: MONDO:0016670
name: sickle cell-hemoglobin d disease syndrome
def: "A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln." [Orphanet:251370]
subset: gard_rare {source="GARD:12458", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251370"}
subset: orphanet_rare {source="Orphanet:251370"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HbSD disease" EXACT [Orphanet:251370]
synonym: "sickle cell - haemoglobin D disease" RELATED OMO:0003005 []
synonym: "sickle cell - hemoglobin D disease" RELATED [GARD:0012458]
xref: GARD:12458 {source="MONDO:GARD"}
xref: ICD10CM:D57.2 {source="Orphanet:251370", source="Orphanet:251370/ntbt", source="Orphanet:251370/inclusion"}
xref: MedDRA:10056724 {source="Orphanet:251370", source="Orphanet:251370/e"}
xref: MEDGEN:452366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251370 {source="MONDO:equivalentTo"}
xref: UMLS:C0272084 {source="MEDGEN:452366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0019050 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited hemoglobinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016671
name: sickle cell-hemoglobin E disease syndrome
def: "A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%)." [Orphanet:251375]
subset: gard_rare {source="GARD:20700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251375"}
subset: orphanet_rare {source="Orphanet:251375"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HbSE disease" EXACT [Orphanet:251375]
xref: GARD:20700 {source="MONDO:GARD"}
xref: ICD10CM:D57.2 {source="Orphanet:251375/ntbt", source="Orphanet:251375/inclusion", source="Orphanet:251375"}
xref: MEDGEN:1669602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251375 {source="MONDO:equivalentTo"}
xref: UMLS:C1112747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1669602"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0019050 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited hemoglobinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI

[Term]
id: MONDO:0016672
name: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
def: "A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF." [Orphanet:251380]
subset: gard_rare {source="GARD:18648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251380"}
subset: orphanet_rare {source="Orphanet:251380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPFH-sickle cell disease syndrome" EXACT [Orphanet:251380]
xref: GARD:18648 {source="MONDO:GARD"}
xref: HGNC:3627 {source="Orphanet:251380/btnt", source="Orphanet:251380"}
xref: HGNC:5153 {source="Orphanet:251380/btnt", source="Orphanet:251380"}
xref: ICD10CM:D57.2 {source="Orphanet:251380/attributed", source="Orphanet:251380/ntbt", source="Orphanet:251380"}
xref: MEDGEN:1679967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"}
xref: OMIM:142470 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"}
xref: OMIM:613566 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"}
xref: Orphanet:251380 {source="MONDO:equivalentTo"}
xref: UMLS:C5190890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679967"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0019050 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited hemoglobinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0016673
name: localized junctional epidermolysis bullosa, non-Herlitz type
def: "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails." [Orphanet:251393]
subset: gard_rare {source="GARD:12923", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251393"}
subset: orphanet_rare {source="Orphanet:251393"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JEB-nH loc" EXACT [Orphanet:251393]
xref: GARD:12923 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:251393", source="Orphanet:251393/attributed", source="Orphanet:251393/ntbt"}
xref: MEDGEN:1814511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251393 {source="MONDO:equivalentTo"}
xref: UMLS:C5700116 {source="MEDGEN:1814511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009180 {source="Orphanet:251393"} ! junctional epidermolysis bullosa, non-Herlitz type
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa-non-herlitz-type" xsd:anyURI {source="GARD:0012923"}

[Term]
id: MONDO:0016674
name: 46,XY partial gonadal dysgenesis
def: "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." [Orphanet:251510]
comment: Editor note: todo - make disjoint with complete form (some classes inherit from both)
subset: gard_rare {source="GARD:17211", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251510"}
subset: ordo_malformation_syndrome {source="Orphanet:251510"}
subset: orphanet_rare {source="Orphanet:251510"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY partial testicular dysgenesis" EXACT [Orphanet:251510]
synonym: "46,XY PGD" EXACT [Orphanet:251510]
xref: GARD:17211 {source="MONDO:GARD"}
xref: ICD10CM:Q56.1 {source="Orphanet:251510", source="Orphanet:251510/attributed", source="Orphanet:251510/ntbt"}
xref: MEDGEN:1388250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251510 {source="MONDO:equivalentTo"}
xref: SCTID:725045004 {source="MONDO:equivalentTo"}
xref: UMLS:C4510744 {source="MEDGEN:1388250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0016675
name: distal arthrogryposis type 10
subset: gard_rare {source="GARD:17212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251515"}
subset: ordo_malformation_syndrome {source="Orphanet:251515"}
subset: orphanet_rare {source="Orphanet:251515"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis, distal, type 10" RELATED [MONDO:Lexical, OMIM:187370]
synonym: "congenital plantar contractures" RELATED [OMIM:187370]
synonym: "DA10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:187370, Orphanet:251515]
synonym: "distal arthrogryposis type 10" EXACT [MONDO:0008539]
synonym: "plantar flexion contracture" EXACT [Orphanet:251515]
synonym: "short Achilles tendon" EXACT [Orphanet:251515]
synonym: "short tendo calcaneus" EXACT [Orphanet:251515]
synonym: "tendo calcaneus, short" RELATED [OMIM:187370]
xref: DOID:0111593 {source="MONDO:equivalentTo"}
xref: GARD:17212 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:251515/attributed", source="Orphanet:251515/ntbt", source="Orphanet:251515"}
xref: MEDGEN:349990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566069 {source="MONDO:equivalentTo"}
xref: OMIM:187370 {source="MONDO:equivalentTo", source="Orphanet:251515/ntbt", source="Orphanet:251515"}
xref: Orphanet:251515 {source="MONDO:equivalentTo"}
xref: SCTID:275336002 {source="MONDO:equivalentTo"}
xref: UMLS:C1861238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349990"}
is_a: MONDO:0019942 {source="DC-OMIM:187370", source="Orphanet:251515"} ! distal arthrogryposis

[Term]
id: MONDO:0016676
name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
def: "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." [Orphanet:251523]
subset: gard_rare {source="GARD:17213", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251523"}
subset: orphanet_rare {source="Orphanet:251523"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperzincemia and hypercalprotectinemia" EXACT [Orphanet:251523]
xref: GARD:17213 {source="MONDO:GARD"}
xref: ICD10CM:E83.2 {source="Orphanet:251523/attributed", source="Orphanet:251523/ntbt", source="Orphanet:251523"}
xref: MEDGEN:1813911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251523 {source="MONDO:equivalentTo"}
xref: UMLS:C4760957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1813911"}
is_a: MONDO:0008691 ! zinc, elevated plasma
is_a: MONDO:0017764 {source="Orphanet:251523"} ! disorder of zinc metabolism

[Term]
id: MONDO:0016677
name: toxic or drug-related embryofetopathy
def: "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment." [MESH:D000014]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:251529"}
xref: icd11.foundation:293076727 {source="Orphanet:251529", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1843068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000014 {source="MONDO:equivalentTo"}
xref: Orphanet:251529 {source="MONDO:equivalentTo"}
xref: UMLS:C5680710 {source="MEDGEN:1843068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="MONDO:0018880-obsoleted"} ! developmental defect during embryogenesis

[Term]
id: MONDO:0016678
name: obsolete maternal disease-related embryofetopathy
subset: ordo_group_of_disorders {source="Orphanet:251535"}
xref: GARD:20702 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:251535 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016679
name: obsolete rare tumor of neuroepithelial tissue
def: "OBSOLETE. Any of the forms of neuroepithelial neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:251558"}
synonym: "rare neuroepithelial neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:20703 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:251558 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021193

[Term]
id: MONDO:0016680
name: high grade astrocytic tumor
def: "An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor)." [NCIT:C102897]
subset: disease_grouping
subset: gard_rare {source="GARD:20704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:251561"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "high grade astrocytic neoplasm" EXACT [NCIT:C102897]
synonym: "high grade astrocytic tumor" EXACT [NCIT:C102897]
synonym: "high-grade astrocytic neoplasm" EXACT [NCIT:C102897]
synonym: "high-grade astrocytic tumor" EXACT [NCIT:C102897]
synonym: "high-grade astrocytic tumour" EXACT OMO:0003005 []
synonym: "high-grade astrocytoma" RELATED [Orphanet:251561]
xref: GARD:20704 {source="MONDO:GARD"}
xref: MEDGEN:769639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C102897 {source="MONDO:equivalentTo"}
xref: Orphanet:251561 {source="MONDO:equivalentTo"}
xref: UMLS:C3640999 {source="MEDGEN:769639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021636 {source="NCIT:C102897", source="Orphanet:251561"} ! astrocytic tumor
is_a: MONDO:0100342 {source="NCIT:C102897", source="Orphanet:251561/inferred"} ! malignant glioma

[Term]
id: MONDO:0016681
name: gliosarcoma
def: "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." [NCIT:C3796]
subset: gard_rare {source="GARD:5653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251576"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251576"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glioblastoma with a sarcomatous component" EXACT [NCIT:C3796]
synonym: "glioblastoma with sarcomatous component" EXACT [DOID:3071]
synonym: "gliosarcoma" EXACT [NCIT:C3796]
synonym: "sarcomatous glioblastoma" RELATED [GARD:0005653]
xref: DOID:3071 {source="MONDO:equivalentTo"}
xref: EFO:1001465 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5653 {source="MONDO:GARD"}
xref: ICD10CM:G71.9 {source="Orphanet:251576", source="Orphanet:251576/ntbt"}
xref: ICDO:9442/3 {source="NCIT:C3796"}
xref: MedDRA:10018340 {source="Orphanet:251576", source="Orphanet:251576/e"}
xref: MEDGEN:64638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018316 {source="MONDO:equivalentTo", source="DOID:3071"}
xref: NCIT:C3796 {source="MONDO:equivalentTo", source="DOID:3071"}
xref: ONCOTREE:GSARC {source="MONDO:equivalentTo"}
xref: Orphanet:251576 {source="MONDO:equivalentTo"}
xref: SCTID:189909006 {source="DOID:3071"}
xref: SCTID:189918008 {source="DOID:3071"}
xref: SCTID:35262004 {source="DOID:3071"}
xref: UMLS:C0206726 {source="MONDO:equivalentTo", source="MEDGEN:64638", source="MONDO:MEDGEN"}
is_a: MONDO:0002501 ! brain glioblastoma
is_a: MONDO:0018177 {source="DOID:3071", source="MONDO:Redundant", source="NCIT:C3796/inferred", source="ONCOTREE:GSARC", source="Orphanet:251576"} ! glioblastoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma" xsd:anyURI {source="GARD:0005653"}

[Term]
id: MONDO:0016682
name: giant cell glioblastoma
def: "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" [NCIT:C4325]
subset: gard_rare {source="GARD:20705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251579"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251579"}
subset: rare
synonym: "Monstrocellular sarcoma" EXACT [DOID:3074]
synonym: "Monstrocellular sarcoma [obs]" EXACT [DOID:3074]
xref: DOID:3074 {source="MONDO:equivalentTo"}
xref: GARD:20705 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251579", source="Orphanet:251579/ntbt"}
xref: ICDO:9441/3 {source="NCIT:C4325"}
xref: MEDGEN:83169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005909 {source="DOID:3074"}
xref: NCIT:C4325 {source="MONDO:equivalentTo", source="DOID:3074"}
xref: Orphanet:251579 {source="MONDO:equivalentTo"}
xref: SCTID:44529004 {source="DOID:3074"}
xref: UMLS:C0334588 {source="MEDGEN:83169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002501 ! brain glioblastoma
is_a: MONDO:0018177 {source="DOID:3074", source="MONDO:Redundant", source="NCIT:C4325/inferred", source="Orphanet:251579"} ! glioblastoma

[Term]
id: MONDO:0016683
name: gliomatosis cerebri
def: "A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)" [NCIT:C4318]
subset: gard_rare {source="GARD:6514", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251582"}
subset: orphanet_rare {source="Orphanet:251582"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytosis cerebri" EXACT [DOID:6128, NCIT:C4318]
synonym: "gliomatosis" EXACT [NCIT:C4318]
synonym: "gliomatosis cerebri" EXACT [NCIT:C4318]
synonym: "gliomatosis cerebri (morphologic abnormality)" EXACT [DOID:6128]
xref: DOID:6128 {source="MONDO:equivalentTo"}
xref: GARD:6514 {source="MONDO:GARD"}
xref: ICD10CM:C71.0 {source="Orphanet:251582", source="Orphanet:251582/ntbt"}
xref: ICDO:9381/3 {source="NCIT:C4318"}
xref: MedDRA:10066254 {source="Orphanet:251582", source="Orphanet:251582/e"}
xref: MEDGEN:87267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018302 {source="DOID:6128"}
xref: NCIT:C4318 {source="DOID:6128", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:251582 {source="MONDO:equivalentTo"}
xref: SCTID:26138003 {source="DOID:6128"}
xref: UMLS:C0334576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87267"}
is_a: MONDO:0001657 {source="DOID:6128", source="MONDO:Redundant", source="NCIT:C4318"} ! brain cancer
is_a: MONDO:0016680 {source="Orphanet:251582"} ! high grade astrocytic tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri" xsd:anyURI {source="GARD:0006514"}

[Term]
id: MONDO:0016684
name: anaplastic astrocytoma
def: "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord." [Orphanet:251589]
subset: gard_rare {source="GARD:5860", source="MONDO:GARD"}
subset: nord_rare {source="NORD:769", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251589"}
subset: orphanet_rare {source="Orphanet:251589"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic astrocytoma" EXACT [DOID:3078, NCIT:C9477]
synonym: "astrocytoma, anaplastic, malignant" EXACT [NCIT:C9477]
synonym: "grade III astrocytic neoplasm" EXACT [NCIT:C9477]
synonym: "grade III astrocytic tumor" EXACT [DOID:3078, NCIT:C9477]
synonym: "grade III astrocytic tumour" EXACT OMO:0003005 []
synonym: "grade III astrocytoma" EXACT [MONDO:0002504, NCIT:C9477]
synonym: "high-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C9477]
synonym: "malignant astrocytoma" EXACT [NCIT:C9477]
xref: DOID:3078 {source="MONDO:equivalentTo"}
xref: EFO:0002499 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5860 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251589/ntbt", source="Orphanet:251589"}
xref: ICDO:9401/3 {source="NCIT:C9477"}
xref: MedDRA:10002224 {source="Orphanet:251589/e", source="Orphanet:251589"}
xref: MedDRA:10060971 {source="Orphanet:251589/e", source="Orphanet:251589"}
xref: MEDGEN:137784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="DOID:3078"}
xref: NANDO:2200086 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9477 {source="DOID:3078", source="MONDO:equivalentTo"}
xref: NORD:769 {source="MONDO:NORD"}
xref: ONCOTREE:AASTR {source="MONDO:equivalentTo"}
xref: Orphanet:251589 {source="MONDO:equivalentTo"}
xref: SCTID:55353007 {source="DOID:3078"}
xref: UMLS:C0334579 {source="MEDGEN:137784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016680 {source="NCIT:C9477", source="Orphanet:251589"} ! high grade astrocytic tumor
is_a: MONDO:0019781 {source="DOID:3078", source="NCIT:C9477"} ! astrocytoma (excluding glioblastoma)
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: has_characteristic PATO:0002092 ! anaplastic

[Term]
id: MONDO:0016685
name: low-grade astrocytoma
subset: disease_grouping
subset: gard_rare {source="GARD:20706", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:251592"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20706 {source="MONDO:GARD"}
xref: MedDRA:10065869 {source="Orphanet:251592", source="Orphanet:251592/e"}
xref: MEDGEN:727259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251592 {source="MONDO:equivalentTo"}
xref: UMLS:C1314694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:727259"}
is_a: MONDO:0019781 {source="MONDO:Redundant", source="Orphanet:251592"} ! astrocytoma (excluding glioblastoma)
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0016686
name: diffuse astrocytoma
def: "A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified." [NCIT:C7173]
subset: gard_rare {source="GARD:5907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251595"}
subset: orphanet_rare {source="Orphanet:251595"}
subset: rare
synonym: "astrocytoma, diffuse" EXACT [NCIT:C7173]
synonym: "astrocytoma, diffuse, malignant" EXACT [NCIT:C7173]
synonym: "diffuse astrocytoma" EXACT [NCIT:C7173]
synonym: "fibrillary astrocytoma (histologic variant)" RELATED [GARD:0005907]
synonym: "gemistocytic astrocytoma (histologic variant)" RELATED [GARD:0005907]
synonym: "grade II astrocytic neoplasm" EXACT [NCIT:C7173]
synonym: "grade II astrocytic tumor" EXACT [NCIT:C7173]
synonym: "grade II astrocytic tumour" EXACT OMO:0003005 []
synonym: "grade II astrocytoma" EXACT [NCIT:C7173]
synonym: "low-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C7173]
synonym: "low-grade diffuse astrocytoma" RELATED [GARD:0005907]
synonym: "protoplasmic astrocytoma (histologic variant)" RELATED [GARD:0005907]
synonym: "WHO grade II astrocytoma" EXACT [NCIT:C7173]
xref: DOID:4857 {source="MONDO:equivalentTo"}
xref: GARD:5907 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251595/ntbt", source="Orphanet:251595"}
xref: MEDGEN:83708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200085 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7173 {source="MONDO:equivalentTo"}
xref: ONCOTREE:DASTR {source="MONDO:equivalentTo"}
xref: Orphanet:251595 {source="MONDO:equivalentTo"}
xref: UMLS:C0280785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83708"}
is_a: MONDO:0016685 {source="MONDO:Redundant", source="Orphanet:251595"} ! low-grade astrocytoma
is_a: MONDO:0019781 {source="MONDO:0016686/inferred", source="MONDO:Redundant", source="NCIT:C7173"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C7173"} ! grade II glioma
relationship: has_characteristic MONDO:0024492 ! tumor grade 2, general grading system

[Term]
id: MONDO:0016687
name: protoplasmic astrocytoma
def: "A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)" [NCIT:C4320]
subset: gard_rare {source="GARD:20707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251598"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251598"}
subset: rare
synonym: "protoplasmic astrocytic tumor" EXACT [DOID:7008, NCIT:C4320]
synonym: "protoplasmic astrocytic tumour" EXACT OMO:0003005 []
synonym: "protoplasmic astrocytoma" EXACT [NCIT:C4320]
synonym: "protoplasmic astrocytoma (morphologic abnormality)" EXACT [DOID:7008]
xref: DOID:7008 {source="MONDO:equivalentTo"}
xref: GARD:20707 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251598", source="Orphanet:251598/ntbt"}
xref: ICDO:9410/3 {source="NCIT:C4320"}
xref: MEDGEN:87268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="DOID:7008"}
xref: NCIT:C4320 {source="DOID:7008", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:251598 {source="MONDO:equivalentTo"}
xref: SCTID:55094006 {source="DOID:7008"}
xref: UMLS:C0334580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87268"}
is_a: MONDO:0016686 {source="NCIT:C4320", source="Orphanet:251598"} ! diffuse astrocytoma

[Term]
id: MONDO:0016688
name: fibrillary astrocytoma
def: "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)" [NCIT:C4322]
subset: gard_rare {source="GARD:20708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251601"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251601"}
subset: rare
synonym: "diffuse astrocytoma" RELATED EXCLUDE [DOID:6726]
synonym: "fibrillary astrocytic tumors" EXACT [DOID:6726, NCIT:C4322]
synonym: "fibrillary astrocytic tumours" EXACT OMO:0003005 []
synonym: "fibrillary astrocytoma" EXACT [NCIT:C4322]
xref: DOID:6726 {source="MONDO:equivalentTo"}
xref: GARD:20708 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251601", source="Orphanet:251601/ntbt"}
xref: ICDO:9420/3 {source="NCIT:C4322"}
xref: MedDRA:10065889 {source="Orphanet:251601/e", source="Orphanet:251601"}
xref: MEDGEN:87270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="DOID:6726"}
xref: NCIT:C4322 {source="MONDO:equivalentTo", source="DOID:6726"}
xref: Orphanet:251601 {source="MONDO:equivalentTo"}
xref: SCTID:253063006 {source="DOID:6726"}
xref: SCTID:71314006 {source="DOID:6726"}
xref: UMLS:C0334582 {source="MEDGEN:87270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016686 {source="NCIT:C4322", source="Orphanet:251601"} ! diffuse astrocytoma

[Term]
id: MONDO:0016689
name: gemistocytic astrocytoma
def: "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)" [NCIT:C4321]
subset: gard_rare {source="GARD:20709", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251604"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251604"}
subset: rare
synonym: "gemistocytic astrocytic tumor" EXACT [DOID:7005, NCIT:C4321]
synonym: "gemistocytic astrocytic tumour" EXACT OMO:0003005 []
synonym: "gemistocytic astrocytoma" EXACT [NCIT:C4321]
synonym: "gemistocytic astrocytoma (morphologic abnormality)" EXACT [DOID:7005]
synonym: "Gemistocytoma" EXACT [NCIT:C4321]
xref: DOID:7005 {source="MONDO:equivalentTo"}
xref: GARD:20709 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251604/ntbt", source="Orphanet:251604"}
xref: ICDO:9411/3 {source="NCIT:C4321"}
xref: MEDGEN:87269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="DOID:7005"}
xref: NCIT:C4321 {source="DOID:7005", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:251604 {source="MONDO:equivalentTo"}
xref: SCTID:73982001 {source="DOID:7005"}
xref: UMLS:C0334581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87269"}
is_a: MONDO:0016686 {source="NCIT:C4321", source="Orphanet:251604"} ! diffuse astrocytoma

[Term]
id: MONDO:0016690
name: pleomorphic xanthoastrocytoma
def: "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." [NCIT:C4323]
subset: gard_rare {source="GARD:10631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251607"}
subset: orphanet_rare {source="Orphanet:251607"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pleomorphic Xantho-astrocytoma" EXACT [DOID:4852, NCIT:C4323]
synonym: "PXA" EXACT ABBREVIATION [ONCOTREE:PXA, Orphanet:251607]
xref: DOID:4852 {source="MONDO:equivalentTo"}
xref: GARD:10631 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251607"}
xref: ICD10CM:C79.1 {source="Orphanet:251607/ntbt"}
xref: ICDO:9424/3 {source="NCIT:C4323"}
xref: MEDGEN:137786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4323 {source="DOID:4852", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PXA {source="MONDO:equivalentTo"}
xref: Orphanet:251607 {source="MONDO:equivalentTo"}
xref: SCTID:189924002 {source="DOID:4852"}
xref: SCTID:78838008 {source="DOID:4852"}
xref: UMLS:C0334586 {source="MEDGEN:137786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016685 {source="Orphanet:251607"} ! low-grade astrocytoma
is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C4323"} ! astrocytoma (excluding glioblastoma)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma" xsd:anyURI {source="GARD:0010631"}

[Term]
id: MONDO:0016691
name: pilocytic astrocytoma
def: "Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported." [Orphanet:251612]
subset: gard_rare {source="GARD:9808", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251612"}
subset: orphanet_rare {source="Orphanet:251612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma, benign" EXACT [NCIT:C4047]
synonym: "astrocytoma, pilocytic, benign" EXACT [NCIT:C4047]
synonym: "grade I astrocytic neoplasm" EXACT [NCIT:C4047]
synonym: "grade I astrocytic tumor" EXACT [DOID:4851, NCIT:C4047]
synonym: "grade I astrocytic tumour" EXACT OMO:0003005 []
synonym: "grade I astrocytoma" EXACT [NCIT:C4047]
synonym: "pilocytic astrocytoma" EXACT [NCIT:C4047]
synonym: "Piloid astrocytoma" EXACT [DOID:4851]
xref: DOID:4851 {source="MONDO:equivalentTo"}
xref: GARD:9808 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251612"}
xref: ICD10CM:C79.1 {source="Orphanet:251612/ntbt"}
xref: ICDO:9421/1 {source="NCIT:C4047"}
xref: MEDGEN:87271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="DOID:4851"}
xref: NANDO:2200084 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4047 {source="DOID:4851", source="MONDO:equivalentTo"}
xref: ONCOTREE:PAST {source="MONDO:equivalentTo"}
xref: Orphanet:251612 {source="MONDO:equivalentTo"}
xref: SCTID:128854008 {source="DOID:4851"}
xref: SCTID:189915006 {source="DOID:4851"}
xref: SCTID:253064000 {source="DOID:4851"}
xref: SCTID:67859002 {source="DOID:4851"}
xref: SCTID:763865009 {source="MONDO:equivalentTo"}
xref: UMLS:C0334583 {source="MONDO:equivalentTo", source="MEDGEN:87271", source="MONDO:MEDGEN"}
is_a: MONDO:0016685 {source="MONDO:Redundant", source="Orphanet:251612"} ! low-grade astrocytoma
is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C4047"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0021638 {source="MONDO:Redundant", source="NCIT:C4047"} ! low grade astrocytic tumor

[Term]
id: MONDO:0016692
name: pilomyxoid astrocytoma
def: "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive." [NCIT:C40315]
comment: The superclass assertion of pilocytic astrocytoma is not supported by NCIT.
subset: gard_rare {source="GARD:20710", source="MONDO:GARD"}
subset: ordo_histopathological_subtype {source="Orphanet:251615"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251615"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PMA" RELATED ABBREVIATION [ONCOTREE:PMA]
xref: DOID:4845 {source="MONDO:equivalentTo"}
xref: GARD:20710 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251615/ntbt", source="Orphanet:251615"}
xref: ICDO:9425/3 {source="NCIT:C40315"}
xref: MEDGEN:276757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40315 {source="MONDO:equivalentTo", source="DOID:4845", source="MONDO:exact-label-match"}
xref: ONCOTREE:PMA {source="MONDO:equivalentTo"}
xref: Orphanet:251615 {source="MONDO:equivalentTo"}
xref: SCTID:388600004 {source="DOID:4845"}
xref: UMLS:C1519086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276757"}
is_a: MONDO:0016691 {source="Orphanet:251615"} ! pilocytic astrocytoma
is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C40315"} ! astrocytoma (excluding glioblastoma)

[Term]
id: MONDO:0016693
name: subependymal giant cell astrocytoma
def: "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)" [NCIT:C3696]
subset: gard_rare {source="GARD:10632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251618"}
subset: orphanet_rare {source="Orphanet:251618"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEGA" EXACT ABBREVIATION [DOID:5077, NCIT:C3696, Orphanet:251618]
synonym: "subependymal giant cell astrocytic neoplasm" EXACT [NCIT:C3696]
synonym: "subependymal giant cell astrocytic tumor" EXACT [NCIT:C3696]
synonym: "subependymal giant cell astrocytic tumour" EXACT OMO:0003005 []
synonym: "subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [DOID:5077]
xref: DOID:5077 {source="MONDO:equivalentTo"}
xref: GARD:10632 {source="MONDO:GARD"}
xref: ICD10CM:D43.2 {source="Orphanet:251618", source="Orphanet:251618/ntbt"}
xref: ICDO:9384/1 {source="NCIT:C3696"}
xref: MEDGEN:61446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="DOID:5077"}
xref: NCIT:C3696 {source="MONDO:equivalentTo", source="DOID:5077"}
xref: Orphanet:251618 {source="MONDO:equivalentTo"}
xref: SCTID:1586004 {source="DOID:5077"}
xref: SCTID:449799008 {source="MONDO:equivalentTo", source="DOID:5077"}
xref: UMLS:C0205768 {source="MEDGEN:61446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007667 {source="DOID:5077"} ! subependymoma
is_a: MONDO:0016685 {source="Orphanet:251618"} ! low-grade astrocytoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma" xsd:anyURI {source="GARD:0010632"}

[Term]
id: MONDO:0016694
name: obsolete Pituicytoma
is_obsolete: true
replaced_by: MONDO:0006372

[Term]
id: MONDO:0016695
name: oligodendroglioma
def: "A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)" [NCIT:C3288]
subset: gard_rare {source="GARD:9953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251627"}
subset: orphanet_rare {source="Orphanet:251627"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "oligodendroglial neoplasm" BROAD [DOID:3181]
synonym: "oligodendroglial tumor" BROAD [DOID:3181, NCIT:C6960]
synonym: "oligodendroglial tumour" BROAD OMO:0003005 []
synonym: "oligodendroglioma" EXACT [NCIT:C3288]
synonym: "oligodendroglioma, NOS" RELATED EXCLUDE [NCIT:C3288]
synonym: "well differentiated oligodendroglial tumor" EXACT [NCIT:C3288]
synonym: "well differentiated oligodendroglial tumour" EXACT OMO:0003005 []
synonym: "well differentiated oligodendroglioma" EXACT [NCIT:C3288]
synonym: "WHO grade II oligodendroglial neoplasm" EXACT [NCIT:C3288]
synonym: "WHO grade II oligodendroglial tumor" EXACT [NCIT:C3288]
synonym: "WHO grade II oligodendroglial tumour" EXACT OMO:0003005 []
xref: DOID:3181 {source="MONDO:equivalentTo"}
xref: EFO:0000632 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9953 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251627"}
xref: ICD10CM:C79.1 {source="Orphanet:251627/ntbt"}
xref: ICDO:9450/3 {source="NCIT:C3288"}
xref: MedDRA:10030286 {source="Orphanet:251627/e", source="Orphanet:251627"}
xref: MEDGEN:45190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009837 {source="MONDO:equivalentTo", source="DOID:3181"}
xref: NANDO:2200089 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3288 {source="ONCOTREE:ODG", source="MONDO:equivalentTo"}
xref: NCIT:C6960 {source="DOID:3181"}
xref: ONCOTREE:ODG {source="MONDO:equivalentTo"}
xref: Orphanet:251627 {source="MONDO:equivalentTo"}
xref: UMLS:C0028945 {source="MEDGEN:45190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C3288", source="Orphanet:251627"} ! oligodendroglial tumor
is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C3288"} ! grade II glioma
intersection_of: MONDO:0018744 ! oligodendroglial tumor
intersection_of: has_characteristic MONDO:0024492 ! tumor grade 2, general grading system

[Term]
id: MONDO:0016696
name: anaplastic oligodendroglioma
def: "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." [NCIT:C4326]
subset: gard_rare {source="GARD:9472", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251630"}
subset: orphanet_rare {source="Orphanet:251630"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic oligodendroglioma" EXACT [NCIT:C4326]
synonym: "malignant oligodendroglioma" EXACT [NCIT:C4326]
synonym: "oligodendroglioma, anaplastic, malignant" EXACT [NCIT:C4326]
synonym: "oligodendroglioma, malignant" EXACT [NCIT:C4326]
synonym: "undifferentiated oligodendroglioma" EXACT [NCIT:C4326]
synonym: "WHO grade III oligodendroglial neoplasm" EXACT [NCIT:C4326]
synonym: "WHO grade III oligodendroglial tumor" EXACT [NCIT:C4326]
synonym: "WHO grade III oligodendroglial tumour" EXACT OMO:0003005 []
xref: DOID:7154 {source="MONDO:equivalentTo"}
xref: EFO:0002501 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9472 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251630"}
xref: ICD10CM:C79.1 {source="Orphanet:251630/ntbt"}
xref: ICDO:9451/3 {source="NCIT:C4326"}
xref: MedDRA:10026659 {source="Orphanet:251630", source="Orphanet:251630/e"}
xref: MEDGEN:90812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4326 {source="MONDO:equivalentTo"}
xref: ONCOTREE:AODG {source="MONDO:equivalentTo"}
xref: Orphanet:251630 {source="MONDO:equivalentTo"}
xref: UMLS:C0334590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90812"}
is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C4326", source="Orphanet:251630"} ! oligodendroglial tumor
is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4326"} ! grade III glioma
intersection_of: MONDO:0018744 ! oligodendroglial tumor
intersection_of: has_characteristic PATO:0002092 ! anaplastic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma" xsd:anyURI {source="GARD:0009472"}

[Term]
id: MONDO:0016697
name: low grade ependymoma
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: ICD10CM:D43.2 {source="Orphanet:251633/ntbt", source="Orphanet:251633"}
xref: Orphanet:251633 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0003266 {source="MONDO:Redundant", source="Orphanet:251633"} ! ependymal tumor
is_a: MONDO:0016698 {source="MONDO:Redundant"} ! ependymoma
intersection_of: MONDO:0016698 ! ependymoma
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016698
name: ependymoma
def: "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" [NCIT:C3017]
subset: gard_rare {source="GARD:6353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251636"}
subset: ordo_histopathological_subtype {source="Orphanet:251636"}
subset: orphanet_rare {source="Orphanet:251636"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign ependymoma" EXACT [DOID:4844, MONDO:0003161]
synonym: "clear cell ependymoma (histologic variant)" RELATED [GARD:0006353]
synonym: "ependymoma" EXACT [NCIT:C3017]
synonym: "ependymoma, benign" NARROW [MONDO:patterns/benign]
synonym: "ependymoma, familial" RELATED [GARD:0006353]
synonym: "ependymoma, NOS" RELATED EXCLUDE [NCIT:C3017]
synonym: "epithelial ependymoma" EXACT [DOID:4844]
synonym: "papillary ependymoma (histologic variant)" RELATED [GARD:0006353]
synonym: "tanycytic ependymoma (histologic variant)" RELATED [GARD:0006353]
synonym: "WHO grade II ependymal neoplasm" NARROW [NCIT:C3017]
synonym: "WHO grade II ependymal tumor" NARROW [DOID:4844, NCIT:C3017]
synonym: "WHO grade II ependymal tumour" NARROW OMO:0003005 []
xref: DOID:4844 {source="MONDO:equivalentTo"}
xref: EFO:1000028 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6353 {source="MONDO:GARD"}
xref: ICD10CM:D43.2 {source="Orphanet:251636/ntbt", source="Orphanet:251636"}
xref: ICDO:9391/3 {source="NCIT:C3017"}
xref: MedDRA:10014967 {source="Orphanet:251636/e", source="Orphanet:251636"}
xref: MEDGEN:41825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004806 {source="DOID:4844", source="MONDO:equivalentTo"}
xref: NANDO:2200088 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3017 {source="ONCOTREE:EPM", source="DOID:4844", source="MONDO:equivalentTo"}
xref: ONCOTREE:EPM {source="MONDO:equivalentTo"}
xref: Orphanet:251636 {source="MONDO:equivalentTo"}
xref: SCTID:189913004 {source="DOID:4844"}
xref: SCTID:253066003 {source="DOID:4844"}
xref: SCTID:443643007 {source="DOID:4844"}
xref: SCTID:57706008 {source="DOID:4844"}
xref: UMLS:C0014474 {source="MEDGEN:41825", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3017", source="ONCOTREE:EPM", source="Orphanet:251636/inferred"} ! ependymal tumor
is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C3017"} ! grade II glioma
intersection_of: MONDO:0003266 {source="NCIT:C3017"} ! ependymal tumor
intersection_of: has_characteristic MONDO:0024492 {source="NCIT:C3017"} ! tumor grade 2, general grading system
relationship: excluded_subClassOf MONDO:0000638 {source="DOID:4844", source="MONDO:Entailed", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! benign glioma
relationship: excluded_subClassOf MONDO:0016697 {source="https://orcid.org/0000-0001-5208-3432"} ! low grade ependymoma

[Term]
id: MONDO:0016699
name: myxopapillary ependymoma
def: "Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population." [Orphanet:251643]
subset: gard_rare {source="GARD:10633", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:251643"}
subset: ordo_histopathological_subtype {source="Orphanet:251643"}
subset: orphanet_rare {source="Orphanet:251643"}
subset: rare
synonym: "ependymoma, benign" EXACT [NCIT:C3697]
synonym: "myxopapillary ependymoma" EXACT [DOID:5075, NCIT:C3697]
synonym: "myxopapillary ependymoma (morphologic abnormality)" EXACT [DOID:5075]
xref: DOID:5075 {source="MONDO:equivalentTo"}
xref: GARD:10633 {source="MONDO:GARD"}
xref: ICD10CM:D43.2 {source="Orphanet:251643", source="Orphanet:251643/ntbt"}
xref: ICDO:9394/1 {source="NCIT:C3697"}
xref: MEDGEN:104717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004806 {source="DOID:5075", source="MONDO:directSiblingOf"}
xref: NCIT:C3697 {source="MONDO:equivalentTo", source="DOID:5075"}
xref: ONCOTREE:MPE {source="MONDO:equivalentTo"}
xref: Orphanet:251643 {source="MONDO:equivalentTo"}
xref: SCTID:1623000 {source="DOID:5075"}
xref: UMLS:C0205769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104717"}
is_a: MONDO:0003266 {source="NCIT:C3697", source="ONCOTREE:MPE", source="Orphanet:251643/inferred"} ! ependymal tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma" xsd:anyURI {source="GARD:0010633"}

[Term]
id: MONDO:0016700
name: anaplastic ependymoma
def: "Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking." [Orphanet:251646]
subset: gard_rare {source="GARD:10634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251646"}
subset: orphanet_rare {source="Orphanet:251646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic ependymal neoplasm" EXACT [NCIT:C4049]
synonym: "anaplastic ependymal tumor" EXACT [NCIT:C4049]
synonym: "anaplastic ependymal tumour" EXACT OMO:0003005 []
synonym: "anaplastic ependymoma" EXACT [NCIT:C4049]
synonym: "ependymal neoplasm" RELATED EXCLUDE [DOID:5074]
synonym: "ependymal tumors" BROAD [DOID:5074]
synonym: "ependymal tumours" BROAD OMO:0003005 []
synonym: "ependymoma, anaplastic, malignant" EXACT [NCIT:C4049]
synonym: "ependymoma, malignant" EXACT [MONDO:patterns/malignant]
synonym: "high-grade ependymoma" EXACT [Orphanet:251646]
synonym: "malignant ependymoma" EXACT [NCIT:C4049]
synonym: "undifferentiated ependymal neoplasm" EXACT [NCIT:C4049]
synonym: "undifferentiated ependymal tumor" EXACT [NCIT:C4049]
synonym: "undifferentiated ependymal tumour" EXACT OMO:0003005 []
synonym: "undifferentiated ependymoma" EXACT [NCIT:C4049]
synonym: "WHO grade III ependymal neoplasm" EXACT [NCIT:C4049]
synonym: "WHO grade III ependymal tumor" EXACT [NCIT:C4049]
synonym: "WHO grade III ependymal tumour" EXACT OMO:0003005 []
xref: DOID:5074 {source="MONDO:equivalentTo"}
xref: DOID:5889 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:10634 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251646/ntbt", source="Orphanet:251646"}
xref: ICDO:9392/3 {source="NCIT:C4049"}
xref: MedDRA:10014968 {source="Orphanet:251646/e", source="Orphanet:251646"}
xref: MEDGEN:128891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4049 {source="MONDO:equivalentTo"}
xref: NCIT:C6770 {source="MONDO:relatedTo", source="DOID:5074"}
xref: ONCOTREE:APE {source="MONDO:equivalentTo"}
xref: Orphanet:251646 {source="MONDO:equivalentTo"}
xref: UMLS:C0280788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:128891"}
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C4049", source="ONCOTREE:APE", source="Orphanet:251646"} ! ependymal tumor
is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4049"} ! grade III glioma
is_a: MONDO:0100342 {source="DOID:5074", source="MONDO:Entailed", source="MONDO:Redundant"} ! malignant glioma
intersection_of: MONDO:0003266 ! ependymal tumor
intersection_of: has_characteristic PATO:0002092 ! anaplastic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4450" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma" xsd:anyURI {source="GARD:0010634"}

[Term]
id: MONDO:0016701
name: obsolete oligoastrocytic tumor
subset: ordo_group_of_disorders {source="Orphanet:251651"}
subset: otar {source="MONDO:OTAR"}
synonym: "mixed oligodendroglial and astrocytic tumor" EXACT [Orphanet:251651]
synonym: "mixed oligodendroglial and astrocytic tumour" EXACT OMO:0003005 []
xref: GARD:20712 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:251651 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016702
name: oligoastrocytoma
def: "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" [NCIT:C4050]
subset: gard_rare {source="GARD:9769", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251656"}
subset: orphanet_rare {source="Orphanet:251656"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glioma, mixed, benign" EXACT [NCIT:C4050]
synonym: "mixed astrocytic-oligodendroglial neoplasm" EXACT [NCIT:C4050]
synonym: "mixed astrocytic-oligodendroglial tumor" EXACT [NCIT:C4050]
synonym: "mixed astrocytic-oligodendroglial tumour" EXACT OMO:0003005 []
synonym: "mixed astrocytoma-oligodendroglioma" EXACT [NCIT:C4050]
synonym: "mixed oligo-astrocytoma" EXACT [NCIT:C4050]
synonym: "mixed oligoastrocytoma" EXACT [Orphanet:251656]
synonym: "mixed oligodendroglioma-astrocytoma" EXACT [MONDO:0004395]
synonym: "MOA" EXACT ABBREVIATION [Orphanet:251656]
synonym: "oligoastrocytoma" EXACT [NCIT:C4050]
synonym: "WHO grade II mixed glioma" EXACT [DOID:7912, NCIT:C4050]
xref: DOID:7912 {source="MONDO:equivalentTo"}
xref: EFO:0000630 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9769 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251656", source="Orphanet:251656/ntbt"}
xref: MedDRA:10027744 {source="Orphanet:251656/e", source="Orphanet:251656"}
xref: MEDGEN:154285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009837 {source="DOID:7912", source="MONDO:directSiblingOf"}
xref: NCIT:C4050 {source="MONDO:equivalentTo", source="DOID:7912"}
xref: ONCOTREE:OAST {source="MONDO:equivalentTo"}
xref: Orphanet:251656 {source="MONDO:equivalentTo"}
xref: SCTID:22217002 {source="DOID:7912"}
xref: SCTID:716647001 {source="MONDO:equivalentTo"}
xref: UMLS:C0547065 {source="MEDGEN:154285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003268 {source="DOID:7912", source="MONDO:Redundant", source="NCIT:C4050"} ! mixed glioma
is_a: MONDO:0021639 {source="NCIT:C4050"} ! grade II glioma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma" xsd:anyURI {source="GARD:0009769"}

[Term]
id: MONDO:0016703
name: anaplastic oligoastrocytoma
def: "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." [NCIT:C6959]
subset: gard_rare {source="GARD:10637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251663"}
subset: orphanet_rare {source="Orphanet:251663"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aMOA" EXACT [Orphanet:251663]
synonym: "anaplastic mixed glioma" EXACT [NCIT:C6959]
synonym: "anaplastic oligoastrocytoma" EXACT [NCIT:C6959]
synonym: "AOAST" RELATED ABBREVIATION [ONCOTREE:AOAST]
synonym: "WHO grade III mixed glioma" EXACT [NCIT:C6959]
xref: EFO:0002500 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10637 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251663", source="Orphanet:251663/ntbt"}
xref: MEDGEN:96556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6959 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:AOAST {source="MONDO:equivalentTo"}
xref: Orphanet:251663 {source="MONDO:equivalentTo"}
xref: UMLS:C0431108 {source="MEDGEN:96556", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003268 {source="MONDO:Redundant", source="NCIT:C6959"} ! mixed glioma
is_a: MONDO:0020633 {source="NCIT:C6959"} ! anaplastic cancer
is_a: MONDO:0021640 {source="NCIT:C6959"} ! grade III glioma
intersection_of: MONDO:0016702 ! oligoastrocytoma
intersection_of: has_characteristic PATO:0002092 ! anaplastic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma" xsd:anyURI {source="GARD:0010637"}

[Term]
id: MONDO:0016704
name: obsolete glial tumor of neuroepithelial tissue with unknown origin
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glioma
subset: ordo_group_of_disorders {source="Orphanet:251668"}
xref: GARD:20713 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:251668 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021042

[Term]
id: MONDO:0016705
name: angiocentric glioma
def: "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis." [Orphanet:251671]
subset: gard_rare {source="GARD:20714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251671"}
subset: orphanet_rare {source="Orphanet:251671"}
subset: rare
synonym: "angiocentric glioma (WHO grade I)" EXACT [NCIT:C92552]
synonym: "angiocentric neuroepithelial tumor" EXACT [NCIT:C92552]
synonym: "angiocentric neuroepithelial tumour" EXACT OMO:0003005 []
synonym: "ANGL" RELATED ABBREVIATION [ONCOTREE:ANGL]
synonym: "Monomorphus angiocentric glioma" EXACT [NCIT:C92552]
xref: DOID:0081261 {source="MONDO:equivalentTo"}
xref: GARD:20714 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251671/ntbt", source="Orphanet:251671"}
xref: ICDO:9431/1 {source="NCIT:C92552"}
xref: MEDGEN:453267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92552 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:ANGL {source="MONDO:equivalentTo"}
xref: Orphanet:251671 {source="MONDO:equivalentTo"}
xref: UMLS:C2363903 {source="MONDO:equivalentTo", source="MEDGEN:453267", source="MONDO:MEDGEN"}
is_a: MONDO:0021042 {source="https://orcid.org/0000-0001-5208-3432"} ! glioma
is_a: MONDO:0021637 {source="NCIT:C92552"} ! low grade glioma

[Term]
id: MONDO:0016706
name: chordoid glioma of the third ventricle
def: "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." [NCIT:C5592]
subset: gard_rare {source="GARD:20715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251674"}
subset: orphanet_rare {source="Orphanet:251674"}
subset: rare
synonym: "chordoid glioma" EXACT [DOID:3774, NCIT:C5592]
synonym: "chordoid glioma (morphologic abnormality)" EXACT [DOID:3774]
synonym: "chordoid glioma of 3rd ventricle" EXACT [DOID:3773, NCIT:C6961]
synonym: "chordoid glioma of the 3rd ventricle" EXACT [NCIT:C5592]
synonym: "chordoid glioma of the third ventricle" EXACT [GARD:0010636]
synonym: "chordoid glioma of the third ventricle (WHO grade II)" EXACT [NCIT:C5592]
synonym: "chordoid glioma of third ventricle" EXACT [DOID:3773]
synonym: "third ventricle chordoid glioma" EXACT [MONDO:patterns/location]
xref: DOID:3773 {source="MONDO:equivalentObsolete", source="MONDO:preferredExternal"}
xref: DOID:3774 {source="MONDO:equivalentTo"}
xref: GARD:20715 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251674", source="Orphanet:251674/ntbt"}
xref: ICDO:9444/1 {source="NCIT:C5592"}
xref: MEDGEN:232956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5592 {source="DOID:3773", source="DOID:3774", source="MONDO:equivalentTo"}
xref: ONCOTREE:CHGL {source="MONDO:equivalentTo"}
xref: Orphanet:251674 {source="MONDO:equivalentTo"}
xref: SCTID:128789002 {source="DOID:3773", source="DOID:3774"}
xref: SCTID:715900001 {source="MONDO:equivalentTo"}
xref: UMLS:C1322252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232956"}
is_a: MONDO:0002682 {source="DOID:3773", source="MONDO:Redundant", source="NCIT:C5592"} ! cerebral ventricle cancer
is_a: MONDO:0005499 {source="DOID:3773", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C5592"} ! glioma
relationship: disease_has_location UBERON:0002286 ! third ventricle
relationship: has_characteristic MONDO:0024492 {source="NCIT:C5592"} ! tumor grade 2, general grading system
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle" xsd:anyURI {source="GARD:0010636"}

[Term]
id: MONDO:0016707
name: astroblastoma
def: "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches." [Orphanet:251679]
subset: gard_rare {source="GARD:10635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251679"}
subset: orphanet_rare {source="Orphanet:251679"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AstB" RELATED [ONCOTREE:ASTB]
synonym: "astroblastoma" EXACT [NCIT:C4324]
synonym: "astroblastoma (morphologic abnormality)" EXACT [DOID:7305]
synonym: "cerebral astroblastoma" RELATED [GARD:0010635]
xref: DOID:7305 {source="MONDO:equivalentTo"}
xref: GARD:10635 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251679/ntbt", source="Orphanet:251679"}
xref: icd11.foundation:96344074 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:251679"}
xref: ICDO:9430/3 {source="NCIT:C4324"}
xref: MEDGEN:90811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018302 {source="DOID:7305"}
xref: NCIT:C4324 {source="DOID:7305", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:ASTB {source="MONDO:equivalentTo"}
xref: Orphanet:251679 {source="MONDO:equivalentTo"}
xref: SCTID:48952003 {source="DOID:7305"}
xref: UMLS:C0334587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90811"}
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C4324"} ! glioma
relationship: excluded_subClassOf MONDO:0019781 {source="DOID:7305", source="https://orcid.org/0000-0001-5208-3432"} ! astrocytoma (excluding glioblastoma)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10635/astroblastoma" xsd:anyURI {source="GARD:0010635"}

[Term]
id: MONDO:0016708
name: obsolete embryonal tumor of neuroepithelial tissue
subset: ordo_group_of_disorders {source="Orphanet:251852"}
xref: GARD:20716 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:251852 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016709
name: anaplastic/large cell medulloblastoma
def: "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity." [NCIT:C129436]
subset: gard_rare {source="GARD:20717", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251855"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251855"}
subset: rare
synonym: "large cell/anaplastic medulloblastoma" EXACT [NCIT:C129436]
xref: GARD:20717 {source="MONDO:GARD"}
xref: ICD10CM:C71.6 {source="Orphanet:251855/ntbt", source="Orphanet:251855"}
xref: MEDGEN:1389864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129436 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NCIT:C6904 {source="ONCOTREE:AMBL"}
xref: ONCOTREE:AMBL {source="MONDO:equivalentTo"}
xref: Orphanet:251855 {source="MONDO:equivalentTo"}
xref: UMLS:C4330531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1389864"}
is_a: MONDO:0007959 {source="NCIT:C129436", source="Orphanet:251855"} ! medulloblastoma

[Term]
id: MONDO:0016710
name: medulloblastoma with extensive nodularity
def: "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis." [Orphanet:251858]
subset: gard_rare {source="GARD:17214", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251858"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251858"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar neuroblastoma" EXACT [NCIT:C5407]
synonym: "MBEN" EXACT ABBREVIATION [Orphanet:251858]
synonym: "medulloblastoma with extensive nodularity" EXACT [NCIT:C5407]
synonym: "medulloblastoma with extensive nodularity and advanced neuronal differentiation" EXACT [NCIT:C5407]
synonym: "nodular medulloblastoma" EXACT [NCIT:C5407]
xref: DOID:3873 {source="MONDO:equivalentTo"}
xref: GARD:17214 {source="MONDO:GARD"}
xref: ICD10CM:C71.6 {source="Orphanet:251858/ntbt", source="Orphanet:251858"}
xref: ICDO:9471/3 {source="NCIT:C5407"}
xref: MEDGEN:233759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5407 {source="DOID:3873", source="MONDO:equivalentTo"}
xref: ONCOTREE:MBEN {source="MONDO:equivalentTo"}
xref: Orphanet:251858 {source="MONDO:equivalentTo"}
xref: UMLS:C1334970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233759"}
is_a: MONDO:0007959 {source="DOID:3873", source="NCIT:C5407", source="Orphanet:251858"} ! medulloblastoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7184" xsd:anyURI

[Term]
id: MONDO:0016711
name: desmoplastic/nodular medulloblastoma
def: "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." [Orphanet:251863]
subset: gard_rare {source="GARD:17215", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251863"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251863"}
subset: rare
synonym: "Desmoplastic medulloblastoma" EXACT [NCIT:C4956]
synonym: "desmoplastic medulloblastoma" EXACT [MONDO:0005547]
synonym: "desmoplastic nodular medulloblastoma" EXACT [NCIT:C4956]
synonym: "desmoplastic/nodular medulloblastoma" EXACT [NCIT:C4956]
xref: GARD:17215 {source="MONDO:GARD"}
xref: ICD10CM:C71.6 {source="Orphanet:251863", source="Orphanet:251863/ntbt"}
xref: ICDO:9471/3 {source="NCIT:C4956"}
xref: MEDGEN:148272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4956 {source="EFO:0005699", source="MONDO:equivalentTo"}
xref: ONCOTREE:DMBL {source="MONDO:equivalentTo"}
xref: Orphanet:251863 {source="MONDO:equivalentTo"}
xref: SCTID:32456001 {source="EFO:0005699"}
xref: UMLS:C0751291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148272"}
is_a: MONDO:0007959 {source="EFO:0005699", source="NCIT:C4956", source="Orphanet:251863"} ! medulloblastoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3139" xsd:anyURI

[Term]
id: MONDO:0016712
name: classic medulloblastoma
def: "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." [Orphanet:251867]
subset: gard_rare {source="GARD:17216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:251867"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:251867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic medulloblastoma" EXACT [NCIT:C54039]
xref: GARD:17216 {source="MONDO:GARD"}
xref: ICD10CM:C71.6 {source="Orphanet:251867/ntbt", source="Orphanet:251867"}
xref: MEDGEN:353541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54039 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:251867 {source="MONDO:equivalentTo"}
xref: SCTID:699704002 {source="MONDO:equivalentTo"}
xref: UMLS:C1707400 {source="MONDO:equivalentTo", source="MEDGEN:353541", source="MONDO:MEDGEN"}
is_a: MONDO:0007959 {source="NCIT:C54039", source="Orphanet:251867"} ! medulloblastoma

[Term]
id: MONDO:0016713
name: central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor
def: "A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone." [NCIT:C129537]
comment: Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma
subset: disease_grouping
subset: gard_rare {source="GARD:20718", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:251870"}
subset: rare
synonym: "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C129537]
synonym: "central nervous system PNET" BROAD [Orphanet:251870]
synonym: "central nervous system primitive neuroectodermal tumor" RELATED [Orphanet:251870]
synonym: "central nervous system primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "CNS PNET" RELATED [Orphanet:251870]
xref: GARD:20718 {source="MONDO:GARD"}
xref: MedDRA:10057846 {source="Orphanet:251870", source="Orphanet:251870/e"}
xref: MEDGEN:1389430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129537 {source="MONDO:equivalentTo"}
xref: Orphanet:251870 {source="MONDO:equivalentTo"}
xref: UMLS:C4329632 {source="MEDGEN:1389430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002714 {source="NCIT:C129537"} ! central nervous system cancer
is_a: MONDO:0021038 {source="MONDO:Redundant", source="NCIT:C129537"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
intersection_of: MONDO:0021038 ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0016714
name: obsolete ganglioneuroblastoma
is_obsolete: true
replaced_by: MONDO:0005035

[Term]
id: MONDO:0016715
name: ependymoblastoma
def: "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis." [Orphanet:251880]
subset: gard_rare {source="GARD:20720", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "embryonal tumor with abundant neuropil and true Rosettes" EXACT [NCIT:C4915]
synonym: "embryonal tumor with abundant neuropil and true rosettes" RELATED [GARD:0006352]
synonym: "embryonal tumor with Multilayered Rosettes" EXACT [NCIT:C4915]
synonym: "embryonal tumor with Multilayered Rosettes with C19MC amplification" EXACT [NCIT:C4915]
synonym: "embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C4915]
synonym: "embryonal tumour with abundant neuropil and true Rosettes" EXACT OMO:0003005 []
synonym: "embryonal tumour with abundant neuropil and true rosettes" RELATED OMO:0003005 []
synonym: "embryonal tumour with Multilayered Rosettes" EXACT OMO:0003005 []
synonym: "embryonal tumour with Multilayered Rosettes with C19MC amplification" EXACT OMO:0003005 []
synonym: "embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 []
synonym: "ependymoblastoma" EXACT [NCIT:C4915]
synonym: "ETANTR" RELATED ABBREVIATION [GARD:0006352, ONCOTREE:ETANTR]
synonym: "ETMR" RELATED ABBREVIATION [GARD:0006352]
synonym: "ETMR, C19MC-altered" EXACT [NCIT:C4915]
synonym: "neuroectodermal tumors primitive" RELATED [GARD:0006352]
synonym: "neuroectodermal tumours primitive" RELATED OMO:0003005 []
xref: DOID:0080903 {source="MONDO:equivalentTo"}
xref: DOID:4794 {source="MONDO:equivalentObsolete"}
xref: GARD:20720 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:251880/ntbt", source="Orphanet:251880"}
xref: MedDRA:10014966 {source="Orphanet:251880", source="Orphanet:251880/e"}
xref: MEDGEN:152150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018242 {source="DOID:4794"}
xref: NCIT:C4915 {source="DOID:4794", source="MONDO:equivalentTo"}
xref: ONCOTREE:ETANTR {source="MONDO:equivalentTo"}
xref: Orphanet:251880 {source="MONDO:equivalentTo"}
xref: SCTID:21589007 {source="DOID:4794"}
xref: SCTID:253070006 {source="DOID:4794"}
xref: SCTID:715901002 {source="MONDO:equivalentTo"}
xref: UMLS:C0700367 {source="MEDGEN:152150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000640 {source="DOID:4794"} ! central nervous system primitive neuroectodermal neoplasm
is_a: MONDO:0016713 {source="Orphanet:251880"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor

[Term]
id: MONDO:0016716
name: obsolete medulloepithelioma of the central nervous system
is_obsolete: true
replaced_by: MONDO:0003144

[Term]
id: MONDO:0016717
name: choroid plexus neoplasm
alt_id: MONDO:0021226
def: "An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma." [NCIT:C3473]
comment: Editor note: see ticket on ncit tracker
subset: disease_grouping
subset: gard_rare {source="GARD:20722", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:251896"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choroid plexus neoplasm" EXACT [NCIT:C3473]
synonym: "choroid plexus tumor" EXACT [NCIT:C3473]
synonym: "choroid plexus tumour" EXACT OMO:0003005 []
synonym: "neoplasm of choroid plexus" EXACT [NCIT:C3473]
synonym: "neoplasm of the choroid plexus" EXACT [NCIT:C3473]
synonym: "tumor of choroid plexus" EXACT [NCIT:C3473]
synonym: "tumor of the choroid plexus" EXACT [NCIT:C3473]
synonym: "tumour of choroid plexus" EXACT OMO:0003005 []
synonym: "tumour of the choroid plexus" EXACT OMO:0003005 []
xref: GARD:20722 {source="MONDO:GARD"}
xref: icd11.foundation:1959912502 {source="MONDO:equivalentTo", source="Orphanet:251896", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:38980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3473 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CPT {source="MONDO:equivalentTo"}
xref: Orphanet:251896 {source="MONDO:equivalentTo"}
xref: SCTID:254942002 {source="MONDO:equivalentTo"}
xref: UMLS:C0085138 {source="MEDGEN:38980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="MONDO:Redundant"} ! brain disorder
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C3473/inferred"} ! central nervous system neoplasm
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C3473/inferred"} ! brain neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure UBERON:0003911 ! choroid plexus epithelium
relationship: disease_arises_from_structure UBERON:0003911 {source="NCIT:C3473"} ! choroid plexus epithelium
relationship: disease_has_location UBERON:0004086 {source="NCIT:C3473"} ! brain ventricle

[Term]
id: MONDO:0016718
name: choroid plexus carcinoma
def: "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)" [NCIT:C4715]
subset: gard_rare {source="GARD:8238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251899"}
subset: orphanet_rare {source="Orphanet:251899"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic choroid plexus papilloma" EXACT [NCIT:C4715]
synonym: "cancer of choroid plexus" BROAD [DOID:5648, NCIT:C4715]
synonym: "cancer of the choroid plexus" BROAD [NCIT:C4715]
synonym: "carcinoma of choroid plexus" EXACT [NCIT:C4715]
synonym: "carcinoma of the choroid plexus" EXACT [NCIT:C4715]
synonym: "carcinoma, choroid plexus, malignant" EXACT [NCIT:C4715]
synonym: "choroid plexus cancer" BROAD [NCIT:C4715]
synonym: "choroid plexus carcinoma" EXACT [NCIT:C4715]
synonym: "choroid plexus carcinoma (morphologic abnormality)" EXACT [DOID:5648]
synonym: "malignant neoplasm of choroid plexus" BROAD [DOID:5648]
synonym: "malignant neoplasm of the choroid plexus" BROAD [DOID:5648, NCIT:C4533]
synonym: "malignant tumor of choroid plexus" BROAD [DOID:5648]
synonym: "malignant tumour of choroid plexus" BROAD OMO:0003005 []
xref: DOID:5648 {source="MONDO:equivalentTo"}
xref: GARD:8238 {source="MONDO:GARD"}
xref: ICD10CM:C71.7 {source="Orphanet:251899/ntbt", source="Orphanet:251899"}
xref: ICDO:9390/3 {source="NCIT:C4715"}
xref: MedDRA:10067478 {source="Orphanet:251899/e", source="Orphanet:251899"}
xref: MEDGEN:96557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562943 {source="MONDO:equivalentTo", source="DOID:5648"}
xref: NCIT:C4533 {source="DOID:5648"}
xref: NCIT:C4715 {source="MONDO:equivalentTo", source="DOID:5648"}
xref: OMIM:260500 {source="MONDO:includedEntryInOMIM", source="Orphanet:251899/ntbt", source="Orphanet:251899"}
xref: ONCOTREE:CPC {source="MONDO:equivalentTo"}
xref: Orphanet:251899 {source="MONDO:equivalentTo"}
xref: SCTID:188292007 {source="MONDO:equivalentTo", source="DOID:5648"}
xref: SCTID:88252006 {source="DOID:5648"}
xref: UMLS:C0431109 {source="MEDGEN:96557", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002681 {source="DOID:5648", source="MONDO:Redundant", source="NCIT:C4715"} ! choroid plexus cancer
is_a: MONDO:0004993 {source="DOID:5648", source="MESH:C562943", source="MONDO:Redundant", source="NCIT:C4715/inferred"} ! carcinoma
is_a: MONDO:0016717 {source="MONDO:Redundant", source="NCIT:C4715/inferred", source="ONCOTREE:CPC", source="Orphanet:251899"} ! choroid plexus neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_arises_from_structure UBERON:0003911 ! choroid plexus epithelium
intersection_of: disease_has_location UBERON:0001886 ! choroid plexus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0016719
name: microcephaly-seizures-intellectual disability-heart disease syndrome
def: "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males." [Orphanet:2519]
subset: gard_rare {source="GARD:18774", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2519"}
subset: ordo_malformation_syndrome {source="Orphanet:2519"}
subset: orphanet_rare {source="Orphanet:2519"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly seizures intellectual disability heart disorders" RELATED [GARD:0003632]
synonym: "microcephaly seizures mental retardation heart disorders" RELATED DEPRECATED [GARD:0003632]
synonym: "microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities" RELATED [GARD:0003632]
synonym: "microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities" RELATED DEPRECATED [GARD:0003632]
xref: GARD:18774 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2519/attributed", source="Orphanet:2519/ntbt", source="Orphanet:2519"}
xref: MEDGEN:419830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537544 {source="Orphanet:2519/e", source="MONDO:equivalentTo", source="Orphanet:2519"}
xref: Orphanet:2519 {source="MONDO:equivalentTo"}
xref: UMLS:C2931529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419830"}
is_a: MONDO:0015159 {source="Orphanet:2519"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2519", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016720
name: obsolete atypical papilloma of choroid plexus
is_obsolete: true
replaced_by: MONDO:0002684

[Term]
id: MONDO:0016721
name: obsolete pineal tumor of neuroepithelial tissue
subset: ordo_group_of_disorders {source="Orphanet:251905"}
xref: GARD:20724 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:251905 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016722
name: pineoblastoma
def: "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis." [Orphanet:251909]
subset: gard_rare {source="GARD:9369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251909"}
subset: orphanet_rare {source="Orphanet:251909"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pineal gland PNET" EXACT [NCIT:C9344]
synonym: "pineal gland primitive neuroectodermal neoplasm" EXACT [NCIT:C9344]
synonym: "pineal gland primitive neuroectodermal tumor" EXACT [NCIT:C9344]
synonym: "pineal gland primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "pineal PNET" EXACT [DOID:1664, NCIT:C9344]
synonym: "pineal primitive neuroectodermal neoplasm" EXACT [NCIT:C9344]
synonym: "pineal primitive neuroectodermal tumor" EXACT [NCIT:C9344]
synonym: "pineal primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "pineoblastoma" EXACT [NCIT:C9344]
synonym: "pineoblastoma (WHO grade IV)" EXACT [NCIT:C9344]
synonym: "pineoblastoma, malignant" EXACT [NCIT:C9344]
synonym: "PNET of pineal gland" EXACT [NCIT:C9344]
synonym: "PNET of the pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal neoplasm of pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal neoplasm of the pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal tumor of pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal tumor of the pineal gland" EXACT [NCIT:C9344]
synonym: "primitive neuroectodermal tumour of pineal gland" EXACT OMO:0003005 []
synonym: "primitive neuroectodermal tumour of the pineal gland" EXACT OMO:0003005 []
xref: DOID:1664 {source="MONDO:equivalentTo", source="EFO:1000475"}
xref: EFO:1000475 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9369 {source="MONDO:GARD"}
xref: ICD10CM:C75.3 {source="Orphanet:251909", source="Orphanet:251909/ntbt"}
xref: ICDO:9362/3 {source="NCIT:C9344"}
xref: MedDRA:10050487 {source="Orphanet:251909", source="Orphanet:251909/e"}
xref: MEDGEN:104745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010871 {source="DOID:1664", source="EFO:1000475"}
xref: NCIT:C9344 {source="MONDO:equivalentTo", source="DOID:1664", source="EFO:1000475"}
xref: ONCOTREE:PBL {source="MONDO:equivalentTo"}
xref: Orphanet:251909 {source="MONDO:equivalentTo"}
xref: SCTID:31671006 {source="DOID:1664"}
xref: UMLS:C0205898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104745"}
is_a: MONDO:0003249 {source="DOID:1664", source="NCIT:C9344"} ! pineal gland cancer
is_a: MONDO:0005564 {source="EFO:1000475", source="MONDO:Redundant", source="NCIT:C9344/inferred"} ! embryonal neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma" xsd:anyURI {source="GARD:0009369"}

[Term]
id: MONDO:0016723
name: pineocytoma
def: "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis." [Orphanet:251912]
subset: gard_rare {source="GARD:8207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251912"}
subset: orphanet_rare {source="Orphanet:251912"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign pinealoma" EXACT [NCIT:C6966]
synonym: "pinealocytoma" EXACT [NCIT:C6966]
synonym: "pineocytoma" EXACT [MONDO:ambiguous, NCIT:C6966]
synonym: "pineocytoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Pineocytoma (WHO grade I)" EXACT [NCIT:C6966]
synonym: "pineocytoma, benign" EXACT [NCIT:C6966]
xref: DOID:0081248 {source="MONDO:equivalentTo"}
xref: EFO:1000476 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8207 {source="MONDO:GARD"}
xref: HP:0030407 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D44.5 {source="Orphanet:251912/ntbt", source="Orphanet:251912"}
xref: ICDO:9361/1 {source="NCIT:C6966"}
xref: MedDRA:10035059 {source="Orphanet:251912/e", source="Orphanet:251912"}
xref: MEDGEN:183004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200092 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6966 {source="EFO:1000476", source="MONDO:equivalentTo"}
xref: ONCOTREE:PINC {source="MONDO:equivalentTo"}
xref: Orphanet:251912 {source="MONDO:equivalentTo"}
xref: SCTID:255045009 {source="MONDO:equivalentTo"}
xref: UMLS:C0917890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:183004"}
is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C6966/inferred"} ! benign neoplasm of brain
is_a: MONDO:0024890 {source="NCIT:C6966"} ! pineal parenchymal cell neoplasm
relationship: has_characteristic PATO:0002096 {source="NCIT:C6966"} ! neoplastic, non-malignant
property_value: IAO:0000589 "pineocytoma (disease)" xsd:string

[Term]
id: MONDO:0016724
name: papillary tumor of the pineal region
def: "Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus." [Orphanet:251915]
subset: gard_rare {source="GARD:20725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251915"}
subset: orphanet_rare {source="Orphanet:251915"}
subset: rare
synonym: "PTPR" EXACT ABBREVIATION [ONCOTREE:PTPR, Orphanet:251915]
xref: DOID:0081251 {source="MONDO:equivalentTo"}
xref: GARD:20725 {source="MONDO:GARD"}
xref: ICD10CM:D44.5 {source="Orphanet:251915", source="Orphanet:251915/ntbt"}
xref: ICDO:9395/3 {source="NCIT:C92624"}
xref: MEDGEN:457445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92624 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PTPR {source="MONDO:equivalentTo"}
xref: Orphanet:251915 {source="MONDO:equivalentTo"}
xref: UMLS:C2985219 {source="MEDGEN:457445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021193 {source="MONDO:Redundant", source="NCIT:C92624"} ! neuroepithelial neoplasm
is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C92624", source="ONCOTREE:PTPR"} ! pineal body neoplasm

[Term]
id: MONDO:0016725
name: obsolete pineal parenchymal tumor of intermediate differenciation
xref: GARD:10644 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6505" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006369

[Term]
id: MONDO:0016726
name: obsolete neuronal tumor
subset: ordo_group_of_disorders {source="Orphanet:251924"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:20726 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:251924 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016727
name: extraventricular neurocytoma
def: "Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior." [Orphanet:251927]
subset: gard_rare {source="GARD:20727", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251927"}
subset: orphanet_rare {source="Orphanet:251927"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EVN" EXACT ABBREVIATION [ONCOTREE:EVN, Orphanet:251927]
synonym: "extraventricular neurocytoma (WHO grade II)" EXACT [NCIT:C92555]
xref: DOID:0081314 {source="MONDO:equivalentTo"}
xref: GARD:20727 {source="MONDO:GARD"}
xref: ICDO:9506/1 {source="NCIT:C92555"}
xref: MEDGEN:457401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92555 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:EVN {source="MONDO:equivalentTo"}
xref: Orphanet:251927 {source="MONDO:equivalentTo"}
xref: SCTID:716787002 {source="MONDO:equivalentTo"}
xref: UMLS:C2985175 {source="MEDGEN:457401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016729 {source="NCIT:C92555"} ! mixed neuronal-glial tumor

[Term]
id: MONDO:0016728
name: obsolete cerebellar liponeurocytoma
is_obsolete: true
replaced_by: MONDO:0006131

[Term]
id: MONDO:0016729
name: mixed neuronal-glial tumor
def: "A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)" [NCIT:C4747]
subset: disease_grouping
subset: gard_rare {source="GARD:20728", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:251934"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuronal and Glio-neuronal neoplasm" EXACT [NCIT:C4747]
synonym: "neuronal and Glio-neuronal tumor" EXACT [NCIT:C4747]
synonym: "neuronal and Glio-neuronal tumour" EXACT OMO:0003005 []
synonym: "neuronal and mixed neuronal-glial tumor" EXACT [NCIT:C4747]
synonym: "neuronal and mixed neuronal-glial tumors" EXACT [NCIT:C4747]
synonym: "neuronal and mixed neuronal-glial tumour" EXACT OMO:0003005 []
synonym: "neuronal and mixed neuronal-glial tumours" EXACT OMO:0003005 []
xref: GARD:20728 {source="MONDO:GARD"}
xref: icd11.foundation:1792897751 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:251934"}
xref: MEDGEN:105377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4747 {source="MONDO:equivalentTo"}
xref: Orphanet:251934 {source="MONDO:equivalentTo"}
xref: UMLS:C0474844 {source="MEDGEN:105377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021193 {source="Orphanet:251934"} ! neuroepithelial neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016679"} ! rare

[Term]
id: MONDO:0016730
name: gangliocytoma
def: "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells." [NCIT:C6934]
subset: gard_rare {source="GARD:10638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251937"}
subset: orphanet_rare {source="Orphanet:251937"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GNC" RELATED ABBREVIATION [ONCOTREE:GNC]
xref: DOID:2426 {source="MONDO:equivalentTo"}
xref: GARD:10638 {source="MONDO:GARD"}
xref: ICD10CM:D36.1 {source="Orphanet:251937", source="Orphanet:251937/ntbt"}
xref: ICDO:9492/0 {source="NCIT:C6934"}
xref: MEDGEN:1681593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005729 {source="MONDO:equivalentTo", source="DOID:2426"}
xref: MESH:D018305 {source="GARD:0010638"}
xref: NANDO:2200097 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6934 {source="MONDO:equivalentTo", source="DOID:2426", source="MONDO:exact-label-match"}
xref: ONCOTREE:GNC {source="MONDO:equivalentTo"}
xref: Orphanet:251937 {source="MONDO:equivalentTo"}
xref: SCTID:116371000119107 {source="DOID:2426", source="MONDO:directSiblingOf"}
xref: SCTID:128919000 {source="DOID:2426"}
xref: SCTID:189929007 {source="DOID:2426"}
xref: SCTID:53801007 {source="DOID:2426"}
xref: UMLS:C5190517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681593"}
is_a: MONDO:0016729 {source="NCIT:C6934", source="Orphanet:251937"} ! mixed neuronal-glial tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma" xsd:anyURI {source="GARD:0010638"}

[Term]
id: MONDO:0016731
name: desmoplastic infantile astrocytoma/ganglioglioma
def: "Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures." [Orphanet:251940]
subset: gard_rare {source="GARD:20729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251940"}
subset: orphanet_rare {source="Orphanet:251940"}
subset: rare
synonym: "DIA/DIG" EXACT [Orphanet:251940]
xref: GARD:20729 {source="MONDO:GARD"}
xref: MEDGEN:1665232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:251940 {source="MONDO:equivalentTo"}
xref: UMLS:C4757951 {source="MONDO:equivalentTo", source="MEDGEN:1665232", source="MONDO:MEDGEN"}
is_a: MONDO:0016729 {source="Orphanet:251940"} ! mixed neuronal-glial tumor

[Term]
id: MONDO:0016732
name: obsolete dysembryoplastic neuroepithelial tumor
is_obsolete: true
replaced_by: MONDO:0005505

[Term]
id: MONDO:0016733
name: ganglioglioma
def: "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)" [NCIT:C3788]
subset: gard_rare {source="GARD:2430", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251949"}
subset: orphanet_rare {source="Orphanet:251949"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult ganglioglioma" NARROW [DOID:5078]
synonym: "childhood ganglioglioma" NARROW [DOID:5078]
synonym: "CNS ganglioglioma" EXACT [DOID:5078]
synonym: "ganglioglioma" EXACT [NCIT:C3788]
synonym: "mixed cell tumors containing both neural ganglionic cells and neural glial cell components" RELATED [GARD:0002430]
synonym: "mixed cell tumours containing both neural ganglionic cells and neural glial cell components" RELATED OMO:0003005 []
xref: DOID:5078 {source="MONDO:equivalentTo"}
xref: EFO:0003094 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2430 {source="MONDO:GARD"}
xref: ICDO:9505/1 {source="NCIT:C3788"}
xref: MedDRA:10017701 {source="Orphanet:251949", source="Orphanet:251949/e"}
xref: MEDGEN:60216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018303 {source="MONDO:equivalentTo", source="DOID:5078"}
xref: NANDO:2200096 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27362 {source="DOID:5078"}
xref: NCIT:C27363 {source="DOID:5078"}
xref: NCIT:C3788 {source="MONDO:equivalentTo", source="DOID:5078"}
xref: ONCOTREE:GNG {source="MONDO:equivalentTo"}
xref: Orphanet:251949 {source="MONDO:equivalentTo"}
xref: SCTID:87191000119100 {source="MONDO:equivalentTo", source="DOID:5078"}
xref: SCTID:89880005 {source="DOID:5078"}
xref: UMLS:C0206716 {source="MONDO:equivalentTo", source="MEDGEN:60216", source="MONDO:MEDGEN"}
is_a: MONDO:0016729 {source="NCIT:C3788", source="Orphanet:251949"} ! mixed neuronal-glial tumor
relationship: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma" xsd:anyURI {source="GARD:0002430"}

[Term]
id: MONDO:0016734
name: anaplastic ganglioglioma
def: "A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)" [NCIT:P378]
subset: gard_rare {source="GARD:10639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251957"}
subset: orphanet_rare {source="Orphanet:251957"}
subset: rare
synonym: "AGNG" RELATED ABBREVIATION [ONCOTREE:AGNG]
xref: GARD:10639 {source="MONDO:GARD"}
xref: ICDO:9505/3 {source="NCIT:C4717"}
xref: MEDGEN:140906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4717 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:AGNG {source="MONDO:equivalentTo"}
xref: Orphanet:251957 {source="MONDO:equivalentTo"}
xref: UMLS:C0431112 {source="MEDGEN:140906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016729 {source="NCIT:C4717", source="Orphanet:251957"} ! mixed neuronal-glial tumor
intersection_of: MONDO:0016733 ! ganglioglioma
intersection_of: has_characteristic PATO:0002092 ! anaplastic
relationship: has_characteristic MONDO:0024493 {source="NCIT:C4717"} ! tumor grade 3, general grading system
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma" xsd:anyURI {source="GARD:0010639"}

[Term]
id: MONDO:0016735
name: papillary glioneuronal tumor
def: "A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present." [NCIT:P378]
subset: gard_rare {source="GARD:20730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251962"}
subset: orphanet_rare {source="Orphanet:251962"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "papillary glioneuronal tumor (WHO grade I)" EXACT [NCIT:C92554]
synonym: "papillary glioneuronal tumour (WHO grade I)" EXACT OMO:0003005 []
synonym: "PGNT" EXACT ABBREVIATION [ONCOTREE:PGNT, Orphanet:251962]
synonym: "pseudopapillary ganglioglioneurocytoma" EXACT [Orphanet:251962]
synonym: "pseudopapillary neurocytoma with glial differentiation" EXACT [Orphanet:251962]
xref: DOID:0081283 {source="MONDO:equivalentTo"}
xref: GARD:20730 {source="MONDO:GARD"}
xref: ICDO:9509/1 {source="NCIT:C92554"}
xref: MEDGEN:457400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C92554 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PGNT {source="MONDO:equivalentTo"}
xref: Orphanet:251962 {source="MONDO:equivalentTo"}
xref: UMLS:C2985174 {source="MEDGEN:457400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016729 {source="NCIT:C92554", source="Orphanet:251962"} ! mixed neuronal-glial tumor
relationship: has_characteristic MONDO:0024491 {source="NCIT:C92554"} ! tumor grade 1, general grading system

[Term]
id: MONDO:0016736
name: rosette-forming glioneuronal tumor of fourth ventricule
def: "A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal." [NCIT:P378]
subset: gard_rare {source="GARD:13593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251975"}
subset: orphanet_rare {source="Orphanet:251975"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DNT of the cerebellum" EXACT [Orphanet:251975]
synonym: "dysembryoplastic neuroepithelial tumor of cerebellum" EXACT [Orphanet:251975]
synonym: "dysembryoplastic neuroepithelial tumour of cerebellum" EXACT OMO:0003005 []
synonym: "RGNT" EXACT ABBREVIATION [Orphanet:251975]
synonym: "rosette-forming glioneuronal tumor" EXACT [NCIT:C129431]
synonym: "rosette-forming glioneuronal tumour" EXACT OMO:0003005 []
xref: DOID:0081284 {source="MONDO:equivalentTo"}
xref: GARD:13593 {source="MONDO:GARD"}
xref: MEDGEN:1377578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129431 {source="MONDO:equivalentTo"}
xref: Orphanet:251975 {source="MONDO:equivalentTo"}
xref: UMLS:C4331262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1377578"}
is_a: MONDO:0016729 {source="NCIT:C129431", source="Orphanet:251975"} ! mixed neuronal-glial tumor

[Term]
id: MONDO:0016737
name: obsolete ganglioneuroma
is_obsolete: true
replaced_by: MONDO:0005033

[Term]
id: MONDO:0016738
name: obsolete primary germ cell tumor of central nervous system
subset: ordo_group_of_disorders {source="Orphanet:251995"}
synonym: "primary germ cell tumor of CNS" EXACT [Orphanet:251995]
synonym: "primary germ cell tumour of CNS" EXACT OMO:0003005 []
xref: GARD:20732 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:251995 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016739
name: yolk sac tumor of central nervous system
def: "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)" [NCIT:C7011]
subset: gard_rare {source="GARD:20733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:252006"}
subset: rare
synonym: "central nervous system yolk Sac tumor" EXACT [NCIT:C7011]
synonym: "central nervous system yolk Sac tumour" EXACT OMO:0003005 []
synonym: "CNS yolk Sac tumor" EXACT [NCIT:C7011]
synonym: "CNS yolk Sac tumour" EXACT OMO:0003005 []
synonym: "endodermal sinus tumor of central nervous system" EXACT [Orphanet:252006]
synonym: "endodermal sinus tumor of CNS" EXACT [Orphanet:252006]
synonym: "endodermal sinus tumour of central nervous system" EXACT OMO:0003005 []
synonym: "endodermal sinus tumour of CNS" EXACT OMO:0003005 []
synonym: "intracranial endodermal sinus tumor" EXACT [Orphanet:252006]
synonym: "intracranial endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "intracranial yolk sac tumor" EXACT [Orphanet:252006]
synonym: "intracranial yolk sac tumour" EXACT OMO:0003005 []
synonym: "yolk Sac tumor of central nervous system" EXACT [NCIT:C7011]
synonym: "yolk Sac tumor of CNS" EXACT [NCIT:C7011]
synonym: "yolk sac tumor of CNS" EXACT [Orphanet:252006]
synonym: "yolk Sac tumor of the central nervous system" EXACT [NCIT:C7011]
synonym: "yolk Sac tumor of the CNS" EXACT [NCIT:C7011]
synonym: "yolk Sac tumour of central nervous system" EXACT OMO:0003005 []
synonym: "yolk Sac tumour of CNS" EXACT OMO:0003005 []
synonym: "yolk sac tumour of CNS" EXACT OMO:0003005 []
synonym: "yolk Sac tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "yolk Sac tumour of the CNS" EXACT OMO:0003005 []
xref: GARD:20733 {source="MONDO:GARD"}
xref: MEDGEN:234492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7011 {source="MONDO:equivalentTo"}
xref: Orphanet:252006 {source="MONDO:equivalentTo"}
xref: UMLS:C1337040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234492"}
is_a: MONDO:0003578 {source="NCIT:C7011"} ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0005744 {source="NCIT:C7011", source="Orphanet:252006"} ! yolk sac tumor

[Term]
id: MONDO:0016740
name: choriocarcinoma of the central nervous system
def: "A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)" [NCIT:P378]
subset: gard_rare {source="GARD:20734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:252015"}
subset: orphanet_rare {source="Orphanet:252015"}
subset: rare
synonym: "central nervous system choriocarcinoma" EXACT [NCIT:C7012]
synonym: "central nervous system choriocarcinoma (disease)" EXACT [MONDO:patterns/location]
synonym: "choriocarcinoma of CNS" EXACT [NCIT:C7012]
synonym: "choriocarcinoma of the CNS" EXACT [NCIT:C7012]
xref: GARD:20734 {source="MONDO:GARD"}
xref: MEDGEN:234100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7012 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:252015 {source="MONDO:equivalentTo"}
xref: UMLS:C1332876 {source="MEDGEN:234100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002714 {source="MONDO:Redundant", source="NCIT:C7012/inferred"} ! central nervous system cancer
is_a: MONDO:0003000 {source="MONDO:Redundant", source="NCIT:C7012/inferred"} ! central nervous system germ cell tumor
is_a: MONDO:0003578 {source="NCIT:C7012"} ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0005207 {source="MONDO:Redundant", source="NCIT:C7012"} ! choriocarcinoma
intersection_of: MONDO:0005207 ! choriocarcinoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0016741
name: obsolete teratoma of the central nervous system
is_obsolete: true
replaced_by: MONDO:0002718

[Term]
id: MONDO:0016742
name: mixed germ cell tumor of central nervous system
def: "A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia." [NCIT:P378]
subset: gard_rare {source="GARD:20736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:252021"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system mixed germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C7016]
synonym: "central nervous system mixed germ cell tumour" EXACT OMO:0003005 []
synonym: "CNS mixed germ cell tumor" EXACT [NCIT:C7016]
synonym: "CNS mixed germ cell tumour" EXACT OMO:0003005 []
synonym: "mixed germ cell neoplasm of the central nervous system" EXACT [NCIT:C7016]
synonym: "mixed germ cell tumor of CNS" EXACT [NCIT:C7016, Orphanet:252021]
synonym: "mixed germ cell tumor of the central nervous system" EXACT [NCIT:C7016]
synonym: "mixed germ cell tumor of the CNS" EXACT [NCIT:C7016]
synonym: "mixed germ cell tumour of CNS" EXACT OMO:0003005 []
synonym: "mixed germ cell tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "mixed germ cell tumour of the CNS" EXACT OMO:0003005 []
xref: GARD:20736 {source="MONDO:GARD"}
xref: MEDGEN:233713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7016 {source="MONDO:equivalentTo"}
xref: Orphanet:252021 {source="MONDO:equivalentTo"}
xref: UMLS:C1334785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233713"}
is_a: MONDO:0003113 {source="NCIT:C7016"} ! extragonadal germ cell cancer
is_a: MONDO:0015864 {source="MONDO:Entailed", source="NCIT:C7016", source="Orphanet:252021"} ! mixed germ cell tumor
intersection_of: MONDO:0015864 ! mixed germ cell tumor
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0016743
name: tumor of meninges
def: "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions." [NCIT:C3229]
subset: disease_grouping
subset: gard_rare {source="GARD:20737", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:252025"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "meningeal cluster neoplasm" EXACT []
synonym: "meningeal cluster neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "meningeal cluster rare nervous system tumor" EXACT [MONDO:patterns/location]
synonym: "meningeal cluster rare nervous system tumour" EXACT OMO:0003005 []
synonym: "meningeal cluster tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "meningeal cluster tumour" EXACT OMO:0003005 []
synonym: "meningeal neoplasm" EXACT [NCIT:C3229]
synonym: "meningeal neoplasms" EXACT [NCIT:C3229]
synonym: "meningeal tumor" EXACT [NCIT:C3229]
synonym: "meningeal tumour" EXACT OMO:0003005 []
synonym: "meninges neoplasm" EXACT [NCIT:C3229]
synonym: "meninges tumor" EXACT [NCIT:C3229]
synonym: "meninges tumour" EXACT OMO:0003005 []
synonym: "meningothelial tumor" RELATED [ONCOTREE:MNGT]
synonym: "meningothelial tumour" RELATED OMO:0003005 []
synonym: "neoplasm of meningeal cluster" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of meninges" EXACT [NCIT:C3229]
synonym: "neoplasm of the meninges" EXACT [NCIT:C3229]
synonym: "tumor of meningeal cluster" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of meninges" EXACT [NCIT:C3229]
synonym: "tumor of the meninges" EXACT [NCIT:C3229]
synonym: "tumour of meningeal cluster" EXACT OMO:0003005 []
synonym: "tumour of the meninges" EXACT OMO:0003005 []
xref: EFO:0003851 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20737 {source="MONDO:GARD"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10061282 {source="Orphanet:252025", source="Orphanet:252025/e"}
xref: MEDGEN:44353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3229 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MNGT {source="MONDO:equivalentTo"}
xref: Orphanet:252025 {source="MONDO:equivalentTo"}
xref: SCTID:126965008 {source="MONDO:equivalentTo"}
xref: UMLS:C0025284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44353"}
is_a: MONDO:0021248 {source="Orphanet:252025"} ! nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020036"} ! rare

[Term]
id: MONDO:0016744
name: obsolete primary melanocytic tumor of central nervous system
subset: ordo_group_of_disorders {source="Orphanet:252028"}
synonym: "primary melanocytic lesion of central nervous system" EXACT [Orphanet:252028]
synonym: "primary melanocytic lesion of CNS" EXACT [Orphanet:252028]
synonym: "primary melanocytic tumor of CNS" EXACT [Orphanet:252028]
synonym: "primary melanocytic tumour of CNS" EXACT OMO:0003005 []
xref: GARD:20738 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:252028 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016745
name: diffuse leptomeningeal melanocytosis
def: "Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis." [Orphanet:252031]
subset: gard_rare {source="GARD:20739", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:252031"}
subset: orphanet_rare {source="Orphanet:252031"}
subset: rare
synonym: "DLM" EXACT ABBREVIATION [Orphanet:252031]
synonym: "leptomeningeal melanomatosis" BROAD [Orphanet:252031]
xref: GARD:20739 {source="MONDO:GARD"}
xref: MEDGEN:1651380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:252031 {source="MONDO:equivalentTo"}
xref: UMLS:C4749348 {source="MEDGEN:1651380", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016743 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! tumor of meninges
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0016746
name: meningeal melanocytoma
def: "A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative." [NCIT:P378]
subset: gard_rare {source="GARD:20740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:252046"}
subset: orphanet_rare {source="Orphanet:252046"}
subset: rare
synonym: "leptomeningeal melanocytoma" EXACT [DOID:5900, NCIT:C4662]
synonym: "melanocytoma of meninges" EXACT [NCIT:C4662]
synonym: "melanocytoma of the meninges" EXACT [NCIT:C4662]
synonym: "meninges melanocytoma" EXACT [NCIT:C4662]
xref: DOID:5900 {source="MONDO:equivalentTo"}
xref: GARD:20740 {source="MONDO:GARD"}
xref: ICDO:8728/1 {source="NCIT:C4662"}
xref: MEDGEN:226842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4662 {source="DOID:5900", source="MONDO:equivalentTo"}
xref: Orphanet:252046 {source="MONDO:equivalentTo"}
xref: SCTID:128730009 {source="DOID:5900"}
xref: SCTID:277527003 {source="DOID:5900", source="MONDO:equivalentTo"}
xref: UMLS:C1266113 {source="MEDGEN:226842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003222 {source="DOID:5900", source="NCIT:C4662/inferred"} ! central nervous system melanocytic neoplasm

[Term]
id: MONDO:0016747
name: primary melanoma of the central nervous system
def: "A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor." [NCIT:C5505]
subset: gard_rare {source="GARD:12016", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:252050"}
subset: orphanet_rare {source="Orphanet:252050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Central nervous system melanoma" EXACT [NCIT:C5505]
synonym: "central nervous system melanoma" EXACT []
synonym: "central nervous system melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "CNS melanoma" EXACT [NCIT:C5505]
synonym: "malignant melanoma of meninges" NARROW [Orphanet:252050]
synonym: "melanoma (disease) of central nervous system" EXACT []
synonym: "melanoma of central nervous system" EXACT [NCIT:C5505]
synonym: "melanoma of CNS" EXACT [NCIT:C5505]
synonym: "melanoma of the Central nervous system" EXACT [NCIT:C5505]
synonym: "melanoma of the CNS" EXACT [NCIT:C5505]
synonym: "primary CNS melanoma" RELATED [GARD:0012016]
synonym: "primary melanoma of the CNS" RELATED [GARD:0012016]
synonym: "primary meningeal melanoma" RELATED [GARD:0012016]
xref: GARD:12016 {source="MONDO:GARD"}
xref: MEDGEN:578849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5505 {source="ONCOTREE:PCNSM", source="MONDO:equivalentTo"}
xref: ONCOTREE:PCNSM {source="MONDO:equivalentTo"}
xref: Orphanet:252050 {source="MONDO:equivalentTo"}
xref: UMLS:C0349626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:578849"}
is_a: MONDO:0003222 {source="MONDO:Redundant", source="NCIT:C5505"} ! central nervous system melanocytic neoplasm
is_a: MONDO:0006320 {source="NCIT:C5505"} ! non-cutaneous melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system" xsd:anyURI {source="GARD:0012016"}

[Term]
id: MONDO:0016748
name: hemangioblastoma
def: "Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported." [Orphanet:252054]
subset: gard_rare {source="GARD:8232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:252054"}
subset: orphanet_rare {source="Orphanet:252054"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioblastoma" EXACT [NCIT:C3801]
synonym: "capillary hemangioblastoma" EXACT [DOID:5241, NCIT:C3801]
synonym: "hemangioblastoma" EXACT [NCIT:C3801]
synonym: "HMBL" RELATED ABBREVIATION [ONCOTREE:HMBL]
xref: DOID:5241 {source="MONDO:equivalentTo"}
xref: GARD:8232 {source="MONDO:GARD"}
xref: ICD10CM:D33.4 {source="Orphanet:252054/btnt", source="MONDO:relatedTo", source="Orphanet:252054"}
xref: ICD10CM:D33.7 {source="Orphanet:252054/btnt", source="Orphanet:252054"}
xref: ICDO:9161/1 {source="NCIT:C3801"}
xref: MedDRA:10018813 {source="Orphanet:252054", source="Orphanet:252054/e"}
xref: MEDGEN:104929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018325 {source="MONDO:equivalentTo", source="DOID:5241"}
xref: NCIT:C3801 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5241"}
xref: ONCOTREE:HMBL {source="MONDO:equivalentTo"}
xref: Orphanet:252054 {source="MONDO:equivalentTo"}
xref: SCTID:81201000 {source="DOID:5241"}
xref: UMLS:C0206734 {source="MEDGEN:104929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002407 {source="DOID:5241", source="MESH:D018325"} ! capillary hemangioma
is_a: MONDO:0021248 {source="MONDO:Entailed", source="Orphanet:252054"} ! nervous system neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020036"} ! rare

[Term]
id: MONDO:0016749
name: tumor of cranial and spinal nerves
subset: disease_grouping
subset: gard_rare {source="GARD:12697", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:252057"}
subset: rare
synonym: "rare tumor of cranial and spinal nerves" EXACT [Orphanet:252057]
synonym: "rare tumour of cranial and spinal nerves" EXACT OMO:0003005 []
xref: GARD:12697 {source="MONDO:GARD"}
xref: MEDGEN:1842705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:252057 {source="MONDO:equivalentTo"}
xref: UMLS:C5679636 {source="MEDGEN:1842705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021248 {source="Orphanet:252057"} ! nervous system neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020036"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves" xsd:anyURI {source="GARD:0012697"}

[Term]
id: MONDO:0016750
name: microcephaly-cleft palate syndrome
def: "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." [Orphanet:2521]
subset: gard_rare {source="GARD:8623", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2521"}
subset: ordo_malformation_syndrome {source="Orphanet:2521"}
subset: orphanet_rare {source="Orphanet:2521"}
subset: rare
synonym: "Halal syndrome" EXACT [Orphanet:2521]
synonym: "microcephaly cleft palate autosomal dominant" RELATED [GARD:0008623]
synonym: "microcephaly-cleft palate-abnormal retinal pigmentation syndrome" RELATED [Orphanet:2521]
xref: GARD:8623 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2521/attributed", source="Orphanet:2521/ntbt", source="Orphanet:2521"}
xref: MEDGEN:419293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535622 {source="MONDO:equivalentTo"}
xref: Orphanet:2521 {source="MONDO:equivalentTo"}
xref: SCTID:719394002 {source="MONDO:equivalentTo"}
xref: UMLS:C2930954 {source="MEDGEN:419293", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2521"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2521", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016751
name: malignant perineurioma
def: "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate." [NCIT:C66845]
subset: gard_rare {source="GARD:20741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:252128"}
subset: rare
synonym: "malignant peripheral nerve sheath tumor with perineurial differentiation" EXACT [NCIT:C66845]
synonym: "malignant peripheral nerve sheath tumour with perineurial differentiation" EXACT OMO:0003005 []
synonym: "perineurial malignant peripheral nerve sheath tumor" EXACT [NCIT:C66845]
synonym: "perineurial malignant peripheral nerve sheath tumour" EXACT OMO:0003005 []
synonym: "perineurioma, malignant" EXACT [MONDO:patterns/malignant]
xref: GARD:20741 {source="MONDO:GARD"}
xref: ICDO:9571/3 {source="NCIT:C66845"}
xref: MEDGEN:220432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C66845 {source="MONDO:equivalentTo"}
xref: Orphanet:252128 {source="MONDO:equivalentTo"}
xref: SCTID:761958009 {source="MONDO:equivalentTo"}
xref: UMLS:C1266188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220432"}
is_a: MONDO:0019404 {source="MONDO:Redundant", source="Orphanet:252128"} ! perineurioma
is_a: MONDO:0021089 {source="MONDO:Redundant", source="NCIT:C66845/inferred"} ! peripheral nervous system cancer
intersection_of: MONDO:0019404 ! perineurioma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0016752
name: benign peripheral nerve sheath tumor
comment: Editor note: consider relationship to granular cell tumor
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:252131"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BPNST" EXACT ABBREVIATION [Orphanet:252131]
xref: MEDGEN:1843306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:252131 {source="MONDO:equivalentTo"}
xref: UMLS:C5577926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843306"}
is_a: MONDO:0016749 {source="Orphanet:252131"} ! tumor of cranial and spinal nerves

[Term]
id: MONDO:0016753
name: obsolete benign schwannoma
is_obsolete: true
replaced_by: MONDO:0002546

[Term]
id: MONDO:0016754
name: obsolete vestibular schwannoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4201" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001569

[Term]
id: MONDO:0016755
name: neurofibroma
def: "An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." [NCIT:C3272]
subset: gard_rare {source="GARD:7191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:252183"}
subset: orphanet_rare {source="Orphanet:252183"}
subset: rare
synonym: "neurofibroma" EXACT [NCIT:C3272]
synonym: "neurofibroma (WHO grade I)" EXACT [NCIT:C3272]
synonym: "neurofibroma, benign" EXACT [NCIT:C3272]
synonym: "NFIB" RELATED ABBREVIATION [ONCOTREE:NFIB]
xref: DOID:962 {source="MONDO:equivalentTo"}
xref: GARD:7191 {source="MONDO:GARD"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9540/0 {source="NCIT:C3272"}
xref: MedDRA:10029267 {source="Orphanet:252183/e", source="Orphanet:252183"}
xref: MEDGEN:45058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009455 {source="DOID:962", source="MONDO:equivalentTo"}
xref: NCIT:C3272 {source="DOID:962", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:NFIB {source="MONDO:equivalentTo"}
xref: Orphanet:252183 {source="MONDO:equivalentTo"}
xref: SCTID:115242003 {source="DOID:962"}
xref: SCTID:134214003 {source="DOID:962"}
xref: SCTID:189947001 {source="DOID:962"}
xref: SCTID:404029005 {source="DOID:962", source="MONDO:equivalentTo"}
xref: SCTID:89084002 {source="DOID:962"}
xref: UMLS:C0027830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45058"}
is_a: MONDO:0001406 {source="DOID:962/inferred", source="MESH:D009455/inferred", source="MONDO:Redundant", source="NCIT:C3272", source="ONCOTREE:NFIB/inferred"} ! peripheral nervous system neoplasm
is_a: MONDO:0002547 {source="DOID:962", source="MESH:D009455", source="NCIT:C3272", source="ONCOTREE:NFIB"} ! nerve sheath neoplasm
is_a: MONDO:0016752 {source="Orphanet:252183"} ! benign peripheral nerve sheath tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7191/neurofibroma" xsd:anyURI {source="GARD:0007191"}

[Term]
id: MONDO:0016756
name: obsolete inherited nervous system cancer-predisposing syndrome
subset: ordo_group_of_disorders {source="Orphanet:252190"}
xref: GARD:20742 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:252190 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016757
name: malignant triton tumor
def: "Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation." [Orphanet:252212]
subset: gard_rare {source="GARD:20743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:252212"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT [DOID:6707]
synonym: "malignant peripheral nerve sheath tumor with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation" EXACT [Orphanet:252212]
synonym: "malignant peripheral nerve sheath tumour with rhabdomyosarcoma" EXACT OMO:0003005 []
synonym: "malignant peripheral nerve sheath tumour with rhabdomyosarcomatous differenciation" EXACT OMO:0003005 []
synonym: "malignant Triton tumor" EXACT [DOID:6707]
synonym: "malignant Triton tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335]
synonym: "malignant tumour of peripheral nerve sheath with rhabdomyosarcoma" EXACT OMO:0003005 []
synonym: "malignant tumour of the peripheral nerve sheath with rhabdomyosarcoma" EXACT OMO:0003005 []
synonym: "MPNST with rhabdomyoblastic differentiation" EXACT [DOID:6707]
synonym: "MPNST with rhabdomyosarcoma" EXACT [DOID:6707, NCIT:C4335]
synonym: "MPNST with rhabdomyosarcomatous differentiation" EXACT [Orphanet:252212]
synonym: "MTT" EXACT ABBREVIATION [Orphanet:252212]
xref: DOID:6707 {source="MONDO:equivalentTo"}
xref: GARD:20743 {source="MONDO:GARD"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9561/3 {source="NCIT:C4335"}
xref: MEDGEN:90816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4335 {source="MONDO:equivalentTo", source="DOID:6707", source="MONDO:exact-label-match"}
xref: Orphanet:252212 {source="MONDO:equivalentTo"}
xref: SCTID:189951004 {source="DOID:6707"}
xref: SCTID:354002 {source="DOID:6707"}
xref: SCTID:404040002 {source="MONDO:equivalentTo", source="DOID:6707"}
xref: UMLS:C0334616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90816"}
is_a: MONDO:0017827 {source="DOID:6707", source="NCIT:C4335/inferred", source="Orphanet:252212"} ! malignant peripheral nerve sheath tumor

[Term]
id: MONDO:0016758
name: microcephaly-brain defect-spasticity-hypernatremia syndrome
def: "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." [Orphanet:2523]
subset: gard_rare {source="GARD:3607", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2523"}
subset: ordo_malformation_syndrome {source="Orphanet:2523"}
subset: orphanet_rare {source="Orphanet:2523"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Franek-Bocker-Kahlen syndrome" EXACT [GARD:0003607, Orphanet:2523]
synonym: "microcephaly - brain defect - spasticity - hypernatremia" RELATED [GARD:0003607]
synonym: "microcephaly brain defect spasticity hypernatremia" RELATED [GARD:0003607]
xref: GARD:3607 {source="MONDO:GARD"}
xref: ICD10CM:G98 {source="Orphanet:2523", source="Orphanet:2523/attributed", source="Orphanet:2523/ntbt"}
xref: MEDGEN:1668792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2523 {source="MONDO:equivalentTo", source="GARD:0003607"}
xref: UMLS:C4749368 {source="MEDGEN:1668792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:2523"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia" xsd:anyURI {source="GARD:0003607"}

[Term]
id: MONDO:0016759
name: pontocerebellar hypoplasia type 2
def: "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." [Orphanet:2524]
subset: gard_rare {source="GARD:10705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2524"}
subset: ordo_malformation_syndrome {source="Orphanet:2524"}
subset: orphanet_rare {source="Orphanet:2524"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCH2" EXACT ABBREVIATION [Orphanet:2524]
synonym: "progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy" RELATED [GARD:0010705]
xref: DOID:0112328 {source="MONDO:equivalentTo"}
xref: GARD:10705 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:2524", source="Orphanet:2524/attributed", source="Orphanet:2524/ntbt"}
xref: MEDGEN:420956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548070 {source="MONDO:equivalentTo", source="Orphanet:2524", source="Orphanet:2524/e"}
xref: NCIT:C124057 {source="MONDO:equivalentTo"}
xref: Orphanet:2524 {source="MONDO:equivalentTo"}
xref: SCTID:715463008 {source="MONDO:equivalentTo"}
xref: UMLS:C2932714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:420956"}
is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy
is_a: MONDO:0020135 {source="Orphanet:2524"} ! pontocerebellar hypoplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2" xsd:anyURI {source="GARD:0010705"}

[Term]
id: MONDO:0016760
name: microcephaly-microcornea syndrome, Seemanova type
def: "Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." [Orphanet:2528]
subset: gard_rare {source="GARD:3627", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2528"}
subset: ordo_malformation_syndrome {source="Orphanet:2528"}
subset: orphanet_rare {source="Orphanet:2528"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly microcornea syndrome Seemanova type" RELATED [GARD:0003627]
synonym: "Seemanova Lesny syndrome" RELATED [GARD:0003627]
synonym: "Seemanova-Lesny syndrome" EXACT [Orphanet:2528]
synonym: "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation" RELATED [GARD:0003627]
xref: GARD:3627 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2528", source="Orphanet:2528/attributed", source="Orphanet:2528/ntbt"}
xref: MEDGEN:419433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537536 {source="Orphanet:2528/e", source="Orphanet:2528"}
xref: MESH:C537539 {source="Orphanet:2528/e", source="MONDO:equivalentTo", source="Orphanet:2528"}
xref: Orphanet:2528 {source="MONDO:equivalentTo"}
xref: SCTID:715464002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419433"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2528"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0021147 ! disorder of development or morphogenesis
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2528", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type" xsd:anyURI {source="GARD:0003627"}

[Term]
id: MONDO:0016761
name: spondyloepiphyseal dysplasia
def: "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis." [https://orcid.org/0000-0001-8612-1062]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SED" EXACT ABBREVIATION [https://orcid.org/0000-0001-8612-1062]
synonym: "spondyloepiphyseal dysplasia" EXACT CLINGEN_LABEL []
xref: DOID:0112280 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q77.7 {source="Orphanet:253/specific", source="Orphanet:253/e", source="Orphanet:253"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062920 {source="Orphanet:253/e", source="Orphanet:253"}
xref: MEDGEN:20916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:252 {source="MONDO:equivalentObsolete"}
xref: Orphanet:253 {source="MONDO:mondoIsBroaderThanSource"}
xref: UMLS:C0038015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20916"}
is_a: MONDO:0005516 {source="DOID:0080027"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="Orphanet:253", source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7065" xsd:anyURI

[Term]
id: MONDO:0016762
name: microcornea-corectopia-macular hypoplasia syndrome
def: "Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family." [Orphanet:2535]
subset: ordo_malformation_syndrome {source="Orphanet:2535"}
synonym: "microcornea corectopia macular hypoplasia" RELATED [GARD:0003636]
xref: ICD10CM:Q15.8 {source="Orphanet:2535", source="Orphanet:2535/attributed", source="Orphanet:2535/ntbt"}
xref: MEDGEN:444078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537551 {source="MONDO:equivalentTo", source="Orphanet:2535", source="Orphanet:2535/e"}
xref: Orphanet:2535 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2931531 {source="MEDGEN:444078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="GARD:0003636"} ! eye disorder

[Term]
id: MONDO:0016763
name: spondylometaphyseal dysplasia
def: "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life." [Orphanet:254]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:18685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:254"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spondylometaphyseal dysplasia" EXACT CLINGEN_LABEL []
xref: DOID:0112295 {source="MONDO:equivalentTo"}
xref: GARD:18685 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:254/attributed", source="Orphanet:254/ntbt", source="Orphanet:254"}
xref: icd11.foundation:181781948 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:254"}
xref: MEDGEN:1674850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:184255 {source="MONDO:equivalentTo"}
xref: Orphanet:254 {source="MONDO:equivalentTo"}
xref: UMLS:C4759767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674850"}
is_a: MONDO:0018230 {source="Orphanet:254", source="PMID:31633310"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0009943 {source="https://orcid.org/0000-0001-5208-3432"} ! Pyle disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:184255"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0016764
name: isolated anophthalmia-microphthalmia syndrome
def: "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." [Orphanet:2542]
subset: disease_grouping
subset: gard_rare {source="GARD:12085", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:2542"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "clinical anophthalmia" RELATED [GARD:0012085]
synonym: "isolated anophthalmia - microphthalmia" RELATED [GARD:0012085]
synonym: "isolated pure microphthalmia" RELATED [GARD:0012085]
synonym: "MAC spectrum" EXACT [Orphanet:2542]
synonym: "microphthalmia-anophthalmia-coloboma spectrum" EXACT [Orphanet:2542]
synonym: "nonsyndromic anophthalmia-microphthalmia syndrome" EXACT [MONDO:patterns/isolated]
synonym: "primitive anophthalmia" RELATED [GARD:0012085]
xref: GARD:12085 {source="MONDO:GARD"}
xref: ICD10CM:Q11.0 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"}
xref: ICD10CM:Q11.1 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"}
xref: ICD10CM:Q11.2 {source="Orphanet:2542", source="Orphanet:2542/btnt", source="Orphanet:2542/specific"}
xref: MEDGEN:1826144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2542 {source="MONDO:equivalentTo"}
xref: UMLS:C5679828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826144"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:2542", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0016765
name: 19p13.12 microdeletion syndrome
def: "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." [Orphanet:254346]
subset: gard_rare {source="GARD:10991", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254346"}
subset: ordo_malformation_syndrome {source="Orphanet:254346"}
subset: orphanet_rare {source="Orphanet:254346"}
subset: rare
synonym: "Chromosome19p13.12 microdeletion" RELATED [GARD:0010991]
synonym: "Del(19)(p13.12)" EXACT [Orphanet:254346]
synonym: "monosomy 19p13.12" EXACT [Orphanet:254346]
xref: GARD:10991 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:254346", source="Orphanet:254346/attributed", source="Orphanet:254346/ntbt"}
xref: MEDGEN:930248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254346 {source="MONDO:equivalentTo"}
xref: SCTID:719597005 {source="MONDO:equivalentTo"}
xref: UMLS:C4304579 {source="MEDGEN:930248", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016897 {source="Orphanet:254346"} ! partial deletion of the short arm of chromosome 19
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr19p13.12 ! 19p13.12 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome" xsd:anyURI {source="GARD:0010991"}

[Term]
id: MONDO:0016766
name: obsolete rare lichen planus
def: "OBSOLETE. Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis." [Orphanet:254367]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:254367"}
synonym: "rare lichen planus" EXACT [MONDO:patterns/rare]
synonym: "rare LP" EXACT [Orphanet:254367]
xref: GARD:12344 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:L43.0 {source="Orphanet:254367/btnt", source="Orphanet:254367"}
xref: ICD10CM:L43.1 {source="Orphanet:254367/btnt", source="Orphanet:254367"}
xref: ICD10CM:L43.2 {source="Orphanet:254367/btnt", source="Orphanet:254367"}
xref: ICD10CM:L43.3 {source="Orphanet:254367/btnt", source="Orphanet:254367"}
xref: ICD10CM:L43.8 {source="Orphanet:254367/btnt", source="Orphanet:254367"}
xref: ICD10CM:L43.9 {source="Orphanet:254367/btnt", source="Orphanet:254367"}
xref: ICD10CM:L66.1 {source="Orphanet:254367/btnt", source="Orphanet:254367"}
xref: Orphanet:254367 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12344/rare-lichen-planus" xsd:anyURI {source="GARD:0012344"}
is_obsolete: true
replaced_by: MONDO:0006572

[Term]
id: MONDO:0016767
name: obsolete cutaneous lichen planus
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:254370"}
synonym: "rare cutaneous lichen planus" EXACT DEPRECATED [Orphanet:254370]
synonym: "rare cutaneous LP" EXACT [Orphanet:254370]
xref: GARD:20744 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:L43.0 {source="Orphanet:254370/ntbt", source="Orphanet:254370"}
xref: ICD10CM:L43.1 {source="Orphanet:254370/ntbt", source="Orphanet:254370"}
xref: ICD10CM:L43.2 {source="Orphanet:254370/ntbt", source="Orphanet:254370"}
xref: ICD10CM:L43.3 {source="Orphanet:254370/ntbt", source="Orphanet:254370"}
xref: ICD10CM:L43.8 {source="Orphanet:254370/ntbt", source="Orphanet:254370"}
xref: ICD10CM:L43.9 {source="Orphanet:254370/ntbt", source="Orphanet:254370"}
xref: ICD10CM:L66.1 {source="Orphanet:254370/ntbt", source="Orphanet:254370"}
xref: Orphanet:254370 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0006572

[Term]
id: MONDO:0016768
name: obsolete rare mucosal lichen planus
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:254373"}
synonym: "rare mucosal LP" EXACT [Orphanet:254373]
xref: GARD:20745 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:L43.0 {source="Orphanet:254373", source="Orphanet:254373/ntbt"}
xref: ICD10CM:L43.1 {source="Orphanet:254373", source="MONDO:relatedTo", source="Orphanet:254373/ntbt"}
xref: ICD10CM:L43.2 {source="Orphanet:254373", source="Orphanet:254373/ntbt"}
xref: ICD10CM:L43.3 {source="Orphanet:254373", source="Orphanet:254373/ntbt"}
xref: ICD10CM:L43.8 {source="Orphanet:254373", source="Orphanet:254373/ntbt"}
xref: ICD10CM:L43.9 {source="Orphanet:254373", source="Orphanet:254373/ntbt"}
xref: Orphanet:254373 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016769
name: linear lichen planus
def: "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." [Orphanet:254379]
subset: gard_rare {source="GARD:11898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254379"}
subset: orphanet_rare {source="Orphanet:254379"}
subset: rare
synonym: "Blaschkoid lichen planus" EXACT [Orphanet:254379]
synonym: "Blaschkoid LP" EXACT [Orphanet:254379]
synonym: "linear LP" EXACT [Orphanet:254379]
synonym: "llp" RELATED [GARD:0011898]
xref: GARD:11898 {source="MONDO:GARD"}
xref: ICD10CM:L43.8 {source="Orphanet:254379", source="Orphanet:254379/ntbt"}
xref: MEDGEN:507921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254379 {source="MONDO:equivalentTo"}
xref: SCTID:44509000 {source="MONDO:equivalentTo"}
xref: UMLS:C0023650 {source="MEDGEN:507921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006572 {source="Orphanet:254379"} ! lichen planus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus" xsd:anyURI {source="GARD:0011898"}

[Term]
id: MONDO:0016770
name: actinic lichen planus
def: "Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions." [Orphanet:254395]
subset: gard_rare {source="GARD:12673", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254395"}
subset: orphanet_rare {source="Orphanet:254395"}
subset: rare
synonym: "actinic LP" EXACT [Orphanet:254395]
synonym: "lichen planus actinus" EXACT [Orphanet:254395]
synonym: "lichen planus subtropicus" EXACT [Orphanet:254395]
synonym: "lichen planus tropicus" EXACT [Orphanet:254395]
synonym: "lichenoid melanodermatitis" EXACT [Orphanet:254395]
synonym: "summertime actinic lichenoid eruption" EXACT [Orphanet:254395]
xref: GARD:12673 {source="MONDO:GARD"}
xref: ICD10CM:L43.8 {source="Orphanet:254395", source="Orphanet:254395/ntbt"}
xref: MEDGEN:590348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254395 {source="MONDO:equivalentTo"}
xref: SCTID:200999007 {source="MONDO:equivalentTo"}
xref: UMLS:C0406365 {source="MEDGEN:590348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006572 {source="Orphanet:254395"} ! lichen planus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus" xsd:anyURI {source="GARD:0012673"}

[Term]
id: MONDO:0016771
name: annular atrophic lichen planus
def: "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion." [Orphanet:254411]
subset: gard_rare {source="GARD:12676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254411"}
subset: orphanet_rare {source="Orphanet:254411"}
subset: rare
synonym: "annular atrophic LP" EXACT [Orphanet:254411]
xref: GARD:12676 {source="MONDO:GARD"}
xref: ICD10CM:L43.8 {source="Orphanet:254411/ntbt", source="Orphanet:254411"}
xref: MEDGEN:929706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254411 {source="MONDO:equivalentTo"}
xref: SCTID:720493003 {source="MONDO:equivalentTo"}
xref: UMLS:C4304037 {source="MEDGEN:929706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006572 {source="Orphanet:254411"} ! lichen planus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus" xsd:anyURI {source="GARD:0012676"}

[Term]
id: MONDO:0016772
name: annular lichen planus
def: "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions." [Orphanet:254424]
subset: gard_rare {source="GARD:12674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254424"}
subset: orphanet_rare {source="Orphanet:254424"}
subset: rare
synonym: "annular LP" EXACT [Orphanet:254424]
xref: GARD:12674 {source="MONDO:GARD"}
xref: ICD10CM:L43.8 {source="Orphanet:254424", source="Orphanet:254424/ntbt"}
xref: MEDGEN:590346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254424 {source="MONDO:equivalentTo"}
xref: SCTID:201000006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590346"}
is_a: MONDO:0006572 {source="Orphanet:254424"} ! lichen planus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus" xsd:anyURI {source="GARD:0012674"}

[Term]
id: MONDO:0016773
name: atrophic lichen planus
def: "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center." [Orphanet:254449]
subset: gard_rare {source="GARD:12675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254449"}
subset: orphanet_rare {source="Orphanet:254449"}
subset: rare
synonym: "atrophic LP" EXACT [Orphanet:254449]
xref: GARD:12675 {source="MONDO:GARD"}
xref: ICD10CM:L43.8 {source="Orphanet:254449/ntbt", source="Orphanet:254449"}
xref: MedDRA:10056959 {source="Orphanet:254449/e", source="Orphanet:254449"}
xref: MEDGEN:9754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34777 {source="MONDO:equivalentTo"}
xref: Orphanet:254449 {source="MONDO:equivalentTo"}
xref: SCTID:25858008 {source="MONDO:equivalentTo"}
xref: UMLS:C0023647 {source="MEDGEN:9754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006572 {source="MONDO:Redundant", source="NCIT:C34777"} ! lichen planus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus" xsd:anyURI {source="GARD:0012675"}

[Term]
id: MONDO:0016774
name: lichen planus pigmentosus
def: "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body." [Orphanet:254463]
subset: gard_rare {source="GARD:10816", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254463"}
subset: orphanet_rare {source="Orphanet:254463"}
subset: rare
synonym: "lichen planus pigmentosa" EXACT [Orphanet:254463]
synonym: "lichen planus pigmentosus inversus" EXACT [Orphanet:254463]
synonym: "LP pigmentosa" EXACT [Orphanet:254463]
synonym: "LP pigmentosus" EXACT [Orphanet:254463]
xref: GARD:10816 {source="MONDO:GARD"}
xref: ICD10CM:L43.8 {source="Orphanet:254463/ntbt", source="Orphanet:254463"}
xref: MEDGEN:590349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254463 {source="MONDO:equivalentTo"}
xref: SCTID:717061002 {source="MONDO:equivalentTo"}
xref: UMLS:C0406366 {source="MEDGEN:590349", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006572 {source="Orphanet:254463"} ! lichen planus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus" xsd:anyURI {source="GARD:0010816"}

[Term]
id: MONDO:0016775
name: lichen planus pemphigoides
def: "Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid." [Orphanet:254478]
subset: gard_rare {source="GARD:12677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254478"}
subset: orphanet_rare {source="Orphanet:254478"}
subset: rare
synonym: "LP pemphigoides" EXACT [Orphanet:254478]
xref: GARD:12677 {source="MONDO:GARD"}
xref: ICD10CM:L43.8 {source="Orphanet:254478", source="Orphanet:254478/ntbt"}
xref: MEDGEN:590352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254478 {source="MONDO:equivalentTo"}
xref: SCTID:238653005 {source="MONDO:equivalentTo"}
xref: UMLS:C0406369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590352"}
is_a: MONDO:0006572 {source="Orphanet:254478"} ! lichen planus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides" xsd:anyURI {source="GARD:0012677"}

[Term]
id: MONDO:0016776
name: frontal fibrosing alopecia
def: "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp." [Orphanet:254492]
subset: gard_rare {source="GARD:10886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254492"}
subset: orphanet_rare {source="Orphanet:254492"}
subset: rare
synonym: "FFA" EXACT ABBREVIATION [Orphanet:254492]
xref: GARD:10886 {source="MONDO:GARD"}
xref: ICD10CM:L66.1 {source="Orphanet:254492/ntbt", source="MONDO:directSiblingOf", source="Orphanet:254492"}
xref: MEDGEN:899012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254492 {source="MONDO:equivalentTo"}
xref: SCTID:717055000 {source="MONDO:equivalentTo"}
xref: UMLS:C4255374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899012"}
is_a: MONDO:0004907 {source="Orphanet:254492"} ! alopecia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia" xsd:anyURI {source="GARD:0010886"}

[Term]
id: MONDO:0016777
name: inhalational botulism
def: "Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs)." [Orphanet:254504]
subset: gard_rare {source="GARD:20746", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:254504"}
subset: rare
synonym: "inhalation botulism" EXACT [Orphanet:254504]
xref: GARD:20746 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="Orphanet:254504/ntbt", source="Orphanet:254504"}
xref: MEDGEN:731169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254504 {source="MONDO:equivalentTo"}
xref: SCTID:409562009 {source="MONDO:equivalentTo"}
xref: UMLS:C1443900 {source="MEDGEN:731169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005498 {source="Orphanet:254504"} ! botulism

[Term]
id: MONDO:0016778
name: iatrogenic botulism
def: "Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use." [Orphanet:254509]
subset: gard_rare {source="GARD:20747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:254509"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "accidental botulism" EXACT [NCIT:C128345]
synonym: "inadvertent botulism" EXACT [Orphanet:254509]
xref: GARD:20747 {source="MONDO:GARD"}
xref: ICD10CM:A05.1 {source="Orphanet:254509/ntbt", source="Orphanet:254509"}
xref: MEDGEN:926454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128345 {source="MONDO:equivalentTo"}
xref: Orphanet:254509 {source="MONDO:equivalentTo"}
xref: UMLS:C4288922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:926454"}
is_a: MONDO:0005498 {source="NCIT:C128345", source="Orphanet:254509"} ! botulism
intersection_of: MONDO:0005498 ! botulism
intersection_of: has_characteristic MONDO:0100426 ! iatrogenic

[Term]
id: MONDO:0016779
name: multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
def: "A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." [Orphanet:254519]
subset: gard_rare {source="GARD:17219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254519"}
subset: ordo_malformation_syndrome {source="Orphanet:254519"}
subset: orphanet_rare {source="Orphanet:254519"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kagami-Ogata syndrome" EXACT [https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/, Orphanet:254519, PMID:34760887]
synonym: "MCA due to 14q32.2 maternally expressed gene defect" EXACT [Orphanet:254519]
xref: DOID:0111712 {source="MONDO:equivalentTo"}
xref: GARD:17219 {source="MONDO:GARD"}
xref: MEDGEN:1830421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254519 {source="MONDO:equivalentTo"}
xref: UMLS:C5779872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830421"}
is_a: MONDO:0015159 {source="Orphanet:254519"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100499 {source="https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/"} ! multiple congenital anomalies due to 14q32.2 imprinting defect
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:254519", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6125" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6127" xsd:anyURI

[Term]
id: MONDO:0016780
name: paternal 14q32.2 microdeletion syndrome
subset: gard_rare {source="GARD:17220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:254525"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:254525"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paternal del(14)(q32.2)" EXACT [Orphanet:254525]
synonym: "paternal monosomy 14q32.2" EXACT [Orphanet:254525]
xref: GARD:17220 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:254525", source="Orphanet:254525/attributed", source="Orphanet:254525/ntbt"}
xref: MEDGEN:1842589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254525 {source="MONDO:equivalentTo"}
xref: UMLS:C5679639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842589"}
is_a: MONDO:0014541 {source="Orphanet:254525"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect
is_a: MONDO:0016912 {source="Orphanet:254525"} ! partial deletion of the long arm of chromosome 14
relationship: disease_arises_from_structure CHR:9606-chr14q32.2 {source="https://orcid.org/0000-0002-4142-7153"} ! 14q32.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016781
name: maternal 14q32.2 microdeletion syndrome
subset: gard_rare {source="GARD:17221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:254528"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:254528"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal del(14)(q32.2)" EXACT [Orphanet:254528]
synonym: "maternal monosomy 14q32.2" EXACT [Orphanet:254528]
xref: GARD:17221 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:254528/attributed", source="Orphanet:254528/ntbt", source="Orphanet:254528"}
xref: MEDGEN:1842712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254528 {source="MONDO:equivalentTo"}
xref: UMLS:C5679640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842712"}
is_a: MONDO:0016779 {source="Orphanet:254528"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

[Term]
id: MONDO:0016782
name: paternal 14q32.2 hypomethylation syndrome
subset: gard_rare {source="GARD:17222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:254531"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:254531"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17222 {source="MONDO:GARD"}
xref: MEDGEN:1842839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254531 {source="MONDO:equivalentTo"}
xref: UMLS:C5680721 {source="MEDGEN:1842839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014541 {source="Orphanet:254531"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect

[Term]
id: MONDO:0016783
name: maternal 14q32.2 hypermethylation syndrome
subset: gard_rare {source="GARD:17223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:254534"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:254534"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17223 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:254534", source="Orphanet:254534/attributed", source="Orphanet:254534/ntbt"}
xref: MEDGEN:1843365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254534 {source="MONDO:equivalentTo"}
xref: UMLS:C5680720 {source="MEDGEN:1843365", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016779 {source="Orphanet:254534"} ! multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

[Term]
id: MONDO:0016784
name: obsolete gestational trophoblastic disease
subset: ordo_group_of_disorders {source="Orphanet:254685"}
xref: GARD:20748 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:631 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D031901 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:obsoleteEquivalent"}
xref: NCIT:C4699 {source="ONCOTREE:GTD"}
xref: ONCOTREE:GTD {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254685 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:416402001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5196" xsd:string
is_obsolete: true
consider: MONDO:0006248
consider: MONDO:0018944

[Term]
id: MONDO:0016785
name: complete hydatidiform mole
def: "Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma." [Orphanet:254688]
subset: gard_rare {source="GARD:17224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:254688"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classical hydatidiform Mole" EXACT [NCIT:C4871]
synonym: "complete hydatid Mole" EXACT [NCIT:C4871]
synonym: "complete molar pregnancy" EXACT [Orphanet:254688]
synonym: "complete Mole" EXACT [NCIT:C4871]
xref: GARD:17224 {source="MONDO:GARD"}
xref: ICD10CM:O01.0 {source="Orphanet:254688", source="Orphanet:254688/e"}
xref: icd11.foundation:1338299833 {source="MONDO:equivalentTo", source="Orphanet:254688"}
xref: MEDGEN:195706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4871 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CHM {source="MONDO:equivalentTo"}
xref: Orphanet:254688 {source="MONDO:equivalentTo"}
xref: SCTID:237249000 {source="MONDO:equivalentTo"}
xref: UMLS:C0678213 {source="MEDGEN:195706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006248 {source="NCIT:C4871", source="ONCOTREE:CHM", source="Orphanet:254688"} ! hydatidiform mole

[Term]
id: MONDO:0016786
name: partial hydatidiform mole
def: "Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage." [Orphanet:254693]
subset: gard_rare {source="GARD:20749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:254693"}
subset: rare
synonym: "incomplete hydatid Mole" EXACT [NCIT:C4293]
synonym: "incomplete hydatidiform mole" EXACT [Orphanet:254693]
synonym: "incomplete molar pregnancy" EXACT [Orphanet:254693]
synonym: "partial hydatid Mole" EXACT [NCIT:C4293]
synonym: "partial molar pregnancy" EXACT [Orphanet:254693]
synonym: "partial Mole" EXACT [NCIT:C4293]
synonym: "PHM" RELATED ABBREVIATION [ONCOTREE:PHM]
xref: GARD:20749 {source="MONDO:GARD"}
xref: ICD10CM:O01.1 {source="Orphanet:254693", source="Orphanet:254693/e"}
xref: icd11.foundation:714020909 {source="Orphanet:254693", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9103/0 {source="NCIT:C4293"}
xref: MEDGEN:87258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4293 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PHM {source="MONDO:equivalentTo"}
xref: Orphanet:254693 {source="MONDO:equivalentTo"}
xref: SCTID:237250000 {source="MONDO:equivalentTo"}
xref: UMLS:C0334529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87258"}
is_a: MONDO:0006248 {source="NCIT:C4293", source="ONCOTREE:PHM", source="Orphanet:254693"} ! hydatidiform mole

[Term]
id: MONDO:0016787
name: epithelioid trophoblastic tumor
def: "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy." [Orphanet:254698]
subset: gard_rare {source="GARD:20750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254698"}
subset: orphanet_rare {source="Orphanet:254698"}
subset: rare
synonym: "epithelioid trophoblastic tumor" EXACT [MONDO:0002700]
synonym: "ETT" RELATED ABBREVIATION [ONCOTREE:ETT]
xref: DOID:3593 {source="MONDO:equivalentTo"}
xref: GARD:20750 {source="MONDO:GARD"}
xref: ICD10CM:D39.2 {source="Orphanet:254698", source="Orphanet:254698/ntbt"}
xref: ICDO:9105/3 {source="NCIT:C6900"}
xref: MEDGEN:266107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6900 {source="MONDO:equivalentTo", source="DOID:3593"}
xref: ONCOTREE:ETT {source="MONDO:equivalentTo"}
xref: Orphanet:254698 {source="MONDO:equivalentTo"}
xref: SCTID:128767001 {source="DOID:3593"}
xref: SCTID:609515005 {source="MONDO:equivalentTo", source="DOID:3593"}
xref: UMLS:C1266159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266107"}
is_a: MONDO:0002872 {source="DOID:3593", source="MONDO:Redundant", source="NCIT:C6900/inferred"} ! trophoblastic neoplasm
is_a: MONDO:0018944 {source="NCIT:C6900", source="Orphanet:254698"} ! gestational trophoblastic neoplasm

[Term]
id: MONDO:0016788
name: obsolete genetic hyperferritinemia without iron overload
def: "OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype." [Orphanet:254704]
comment: This is a biological anomaly and not a disease.
subset: ordo_biological_anomaly {source="Orphanet:254704"}
subset: ordo_disorder {source="Orphanet:254704"}
synonym: "benign hyperferritinemia" EXACT [Orphanet:254704]
xref: GARD:20751 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254704 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:766929007 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI
is_obsolete: true
consider: HP:0003281

[Term]
id: MONDO:0016789
name: pyruvate metabolism disorder
def: "An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:20752", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:254746"}
subset: rare
synonym: "inborn error of pyruvate metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn pyruvate metabolic process disorder" EXACT []
synonym: "rare inborn error of pyruvate metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:20752 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:254746/attributed", source="Orphanet:254746/ntbt", source="Orphanet:254746"}
xref: MEDGEN:1842590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254746 {source="MONDO:equivalentTo"}
xref: UMLS:C0268192 {source="MEDGEN:1842590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019243 {source="Orphanet:254746"} ! inborn disorder of energy metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006090 ! pyruvate metabolic process

[Term]
id: MONDO:0016790
name: tricarboxylic acid cycle disorder
def: "An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:20753", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:254749"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "citric acid cycle disorder" EXACT [Orphanet:254749]
synonym: "inborn error of tricarboxylic acid cycle" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn tricarboxylic acid cycle disorder" EXACT []
synonym: "Krebs cycle disorder" EXACT [Orphanet:254749]
synonym: "rare inborn error of tricarboxylic acid cycle" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "TCA cycle disorder" EXACT [Orphanet:254749]
xref: GARD:20753 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:254749/attributed", source="Orphanet:254749/ntbt", source="Orphanet:254749"}
xref: MEDGEN:1843282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254749 {source="MONDO:equivalentTo"}
xref: UMLS:C5679646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843282"}
is_a: MONDO:0019243 {source="MONDO:Redundant", source="Orphanet:254749"} ! inborn disorder of energy metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006099 ! tricarboxylic acid cycle

[Term]
id: MONDO:0016791
name: obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder'
subset: ordo_group_of_disorders {source="Orphanet:254758"}
synonym: "mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies" EXACT [Orphanet:254758]
synonym: "OXPHOS disease due to mitochondrial DNA anomalies" EXACT [Orphanet:254758]
synonym: "OXPHOS disease due to mtDNA anomalies" EXACT [Orphanet:254758]
xref: GARD:20754 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254758 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016387

[Term]
id: MONDO:0016792
name: obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder'
subset: ordo_group_of_disorders {source="Orphanet:254767"}
synonym: "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767]
synonym: "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA" EXACT [Orphanet:254767]
synonym: "OXPHOS disease due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767]
xref: GARD:20755 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254767 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016387

[Term]
id: MONDO:0016793
name: obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder'
subset: ordo_group_of_disorders {source="Orphanet:254776"}
synonym: "mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA" EXACT [Orphanet:254776]
synonym: "OXPHOS disease due to a point mutation of mitochondrial DNA" EXACT [Orphanet:254776]
synonym: "OXPHOS disease due to a point mutation of mtDNA" EXACT [Orphanet:254776]
xref: GARD:20756 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:2200524 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:254776 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016387

[Term]
id: MONDO:0016794
name: obsolete maternally-inherited mitochondrial myopathy
subset: ordo_group_of_disorders {source="Orphanet:254788"}
xref: GARD:20757 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.3 {source="Orphanet:254788", source="Orphanet:254788/attributed", source="Orphanet:254788/ntbt"}
xref: Orphanet:254788 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016795
name: obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder'
synonym: "mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA" EXACT [Orphanet:254793]
synonym: "OXPHOS disease due to a duplication of mitochondrial DNA" EXACT [Orphanet:254793]
synonym: "OXPHOS disease due to a duplication of mtDNA" EXACT [Orphanet:254793]
xref: Orphanet:254793 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016387

[Term]
id: MONDO:0016796
name: mitochondrial DNA depletion syndrome, encephalomyopathic form
def: "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features." [Orphanet:254803]
subset: disease_grouping
subset: gard_rare {source="GARD:17225", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:254803"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mtDNA depletion syndrome, encephalomyopathic form" EXACT [Orphanet:254803]
xref: GARD:17225 {source="MONDO:GARD"}
xref: MEDGEN:1637084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254803 {source="MONDO:equivalentTo"}
xref: UMLS:C4707428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637084"}
is_a: MONDO:0018158 {source="Orphanet:254803"} ! mitochondrial DNA depletion syndrome

[Term]
id: MONDO:0016797
name: obsolete multiple mitochondrial DNA deletion syndrome
def: "OBSOLETE. A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal." [PMID:24266892]
subset: ordo_group_of_disorders {source="Orphanet:254807"}
subset: otar {source="MONDO:OTAR"}
synonym: "multiple mtDNA deletion syndrome" EXACT [Orphanet:254807]
xref: GARD:20758 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:194083556 {source="Orphanet:254807", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:254807 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016798
name: ataxia neuropathy spectrum
subset: disease_grouping
subset: gard_rare {source="GARD:20759", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:254818"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20759 {source="MONDO:GARD"}
xref: MEDGEN:777176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579922 {source="MONDO:equivalentTo"}
xref: Orphanet:254818 {source="MONDO:equivalentTo"}
xref: UMLS:C3683791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777176"}
is_a: MONDO:0016387 {source="Orphanet:254818", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder

[Term]
id: MONDO:0016799
name: obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder'
subset: ordo_group_of_disorders {source="Orphanet:254822"}
synonym: "OXPHOS disease with no known mechanism" EXACT [Orphanet:254822]
xref: GARD:20760 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254822 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016387

[Term]
id: MONDO:0016800
name: mitochondrial membrane transport disorder
subset: disease_grouping
subset: gard_rare {source="GARD:20761", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:254827"}
subset: rare
xref: GARD:20761 {source="MONDO:GARD"}
xref: icd11.foundation:1340308055 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:254827"}
xref: MEDGEN:1842228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254827 {source="MONDO:equivalentTo"}
xref: UMLS:C5680718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842228"}
is_a: MONDO:0004069 {source="MONDO:Redundant", source="Orphanet:254827"} ! inborn mitochondrial metabolism disorder
intersection_of: MONDO:0004069 ! inborn mitochondrial metabolism disorder
intersection_of: disease_disrupts GO:1990542 ! mitochondrial transmembrane transport

[Term]
id: MONDO:0016801
name: mitochondrial substrate carrier disorder
subset: disease_grouping
subset: gard_rare {source="GARD:20762", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:254830"}
subset: rare
xref: GARD:20762 {source="MONDO:GARD"}
xref: icd11.foundation:1118834100 {source="MONDO:equivalentTo", source="Orphanet:254830", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254830 {source="MONDO:equivalentTo"}
xref: UMLS:C5680716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842923"}
is_a: MONDO:0016800 {source="Orphanet:254830"} ! mitochondrial membrane transport disorder

[Term]
id: MONDO:0016802
name: mitochondrial protein import disorder
subset: disease_grouping
subset: gard_rare {source="GARD:20763", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:254834"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20763 {source="MONDO:GARD"}
xref: icd11.foundation:112110122 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:254834"}
xref: MEDGEN:1843384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254834 {source="MONDO:equivalentTo"}
xref: UMLS:C5680717 {source="MEDGEN:1843384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016800 {source="Orphanet:254834"} ! mitochondrial membrane transport disorder

[Term]
id: MONDO:0016803
name: obsolete unspecified inborn mitochondrial disorder
subset: ordo_group_of_disorders {source="Orphanet:254837"}
synonym: "unspecified mitochondrial disorder" EXACT [Orphanet:254837]
xref: GARD:20764 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254837 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016804
name: obsolete exercise intolerance with lactic acidosis
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:254843"}
xref: GARD:20765 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254843 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0016805
name: obsolete isolated oxidative phosphorylation complex disorder
subset: ordo_group_of_disorders {source="Orphanet:254846"}
synonym: "isolated respiratory chain complex disorder" EXACT [Orphanet:254846]
xref: GARD:20766 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:254846 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016806
name: maternally-inherited mitochondrial dystonia
def: "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." [Orphanet:254851]
subset: gard_rare {source="GARD:20767", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254851"}
subset: orphanet_rare {source="Orphanet:254851"}
subset: rare
xref: GARD:20767 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="Orphanet:254851/attributed", source="Orphanet:254851/ntbt", source="Orphanet:254851"}
xref: MEDGEN:907850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254851 {source="MONDO:equivalentTo"}
xref: SCTID:717054001 {source="MONDO:equivalentTo"}
xref: UMLS:C4274074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907850"}
is_a: MONDO:0016387 {source="Orphanet:254851"} ! mitochondrial oxidative phosphorylation disorder

[Term]
id: MONDO:0016807
name: pure mitochondrial myopathy
def: "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes." [Orphanet:254854]
subset: gard_rare {source="GARD:20768", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254854"}
subset: orphanet_rare {source="Orphanet:254854"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20768 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:254854", source="Orphanet:254854/attributed", source="Orphanet:254854/ntbt"}
xref: MEDGEN:1375079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254854 {source="MONDO:equivalentTo"}
xref: SCTID:732245008 {source="MONDO:equivalentTo"}
xref: UMLS:C4517289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1375079"}
is_a: MONDO:0044970 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease

[Term]
id: MONDO:0016808
name: obsolete mitochondrial DNA depletion syndrome, hepatocerebral form
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014943

[Term]
id: MONDO:0016809
name: spinocerebellar ataxia with epilepsy
subset: gard_rare {source="GARD:17229", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254881"}
subset: orphanet_rare {source="Orphanet:254881"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial spinocerebellar ataxia with epilepsy" EXACT [Orphanet:254881]
synonym: "MSCAE" EXACT ABBREVIATION [Orphanet:254881]
synonym: "SCAE" EXACT ABBREVIATION [Orphanet:254881]
xref: GARD:17229 {source="MONDO:GARD"}
xref: MEDGEN:334510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564395 {source="MONDO:equivalentTo"}
xref: Orphanet:254881 {source="MONDO:equivalentTo"}
xref: UMLS:C1843852 {source="MEDGEN:334510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011835 ! sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

[Term]
id: MONDO:0016810
name: autosomal recessive progressive external ophthalmoplegia
def: "Autosomal recessive form of progressive external ophthalmoplegia." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="GARD:1191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:254886"}
subset: orphanet_rare {source="Orphanet:254886"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arPEO" EXACT [Orphanet:254886]
synonym: "progressive external ophthalmoplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:1191 {source="MONDO:GARD"}
xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:254886", source="Orphanet:254886/attributed", source="Orphanet:254886/ntbt"}
xref: MEDGEN:340509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564926 {source="MONDO:equivalentTo"}
xref: Orphanet:254886 {source="MONDO:equivalentTo"}
xref: UMLS:C1850303 {source="MEDGEN:340509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005181 ! progressive external ophthalmoplegia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0016811
name: renal tubulopathy-encephalopathy-liver failure syndrome
def: "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders." [Orphanet:254902]
subset: gard_rare {source="GARD:17231", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:254902"}
subset: orphanet_rare {source="Orphanet:254902"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17231 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:254902/attributed", source="Orphanet:254902/ntbt", source="Orphanet:254902"}
xref: MEDGEN:900319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:254902 {source="MONDO:equivalentTo"}
xref: UMLS:C4274075 {source="MEDGEN:900319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007415 ! mitochondrial complex III deficiency nuclear type 1
is_a: MONDO:0044970 ! mitochondrial disease

[Term]
id: MONDO:0016812
name: dopa-responsive dystonia
def: "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency." [Orphanet:255]
subset: disease_grouping
subset: gard_rare {source="GARD:12144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:255"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dopa-responsive dystonia" EXACT CLINGEN_LABEL []
synonym: "DYT-GCH1 (subtype)" RELATED [GARD:0009817]
synonym: "DYT-SPR (subtype)" RELATED [GARD:0009817]
synonym: "DYT-TH (subtype)" RELATED [GARD:0009817]
synonym: "DYT5" RELATED ABBREVIATION [GARD:0009817]
synonym: "DYT5 dystonia" EXACT [NCIT:C116719]
synonym: "hereditary progressive dystonia with diurnal fluctuation" EXACT [Orphanet:255]
synonym: "HPD with diurnal fluctuation" EXACT [Orphanet:255]
synonym: "Segawa's disease" EXACT [NCIT:C116719]
xref: GARD:12144 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="Orphanet:255/attributed", source="Orphanet:255/ntbt", source="Orphanet:255"}
xref: MESH:C538007 {source="Orphanet:255/e", source="MONDO:equivalentTo", source="Orphanet:255"}
xref: NANDO:1200516 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200885 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116719 {source="MONDO:equivalentTo"}
xref: Orphanet:255 {source="MONDO:equivalentTo"}
xref: SCTID:230332007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-4142-7153"} ! metabolic disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0016813
name: obsolete microsporidiosis
is_obsolete: true
replaced_by: MONDO:0005846

[Term]
id: MONDO:0016814
name: maternally-inherited Leigh syndrome
def: "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." [Orphanet:255210]
subset: gard_rare {source="GARD:3671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:255210"}
subset: orphanet_rare {source="Orphanet:255210"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Leigh disease, maternally inherited" RELATED [GARD:0003671]
synonym: "maternally inherited Leigh syndrome" RELATED [GARD:0003671]
synonym: "maternally-inherited infantile subacute necrotizing encephalopathy" EXACT [Orphanet:255210]
synonym: "maternally-inherited Leigh disease" EXACT [Orphanet:255210]
synonym: "MILS" EXACT ABBREVIATION [Orphanet:255210]
synonym: "mitochondrial DNA-associated Leigh syndrome" RELATED [GARD:0003671]
synonym: "Subacute necrotizing encephalomyelopathy maternally inherited" RELATED [GARD:0003671]
xref: GARD:3671 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:255210", source="Orphanet:255210/attributed", source="Orphanet:255210/ntbt"}
xref: MEDGEN:443976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536035 {source="MONDO:equivalentTo"}
xref: Orphanet:255210 {source="MONDO:equivalentTo"}
xref: SCTID:717052002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443976"}
is_a: MONDO:0009723 {source="https://orcid.org/0000-0001-5208-3432"} ! Leigh syndrome
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0016815
name: obsolete Leigh syndrome with leukodystrophy
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
synonym: "infantile subacute necrotizing encephalopathy with leukodystrophy" EXACT [Orphanet:255241]
synonym: "Leigh disease with leukodystrophy" EXACT [Orphanet:255241]
xref: GARD:17238 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G31.8 {source="Orphanet:255241/attributed", source="Orphanet:255241/ntbt", source="Orphanet:255241"}
xref: Orphanet:255241 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016816
name: obsolete Leigh syndrome with nephrotic syndrome
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
synonym: "infantile subacute necrotizing encephalopathy with nephrotic syndrome" EXACT [Orphanet:255249]
synonym: "Leigh disease with nephrotic syndrome" EXACT [Orphanet:255249]
xref: GARD:17239 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G31.8 {source="Orphanet:255249", source="Orphanet:255249/attributed", source="Orphanet:255249/ntbt"}
xref: Orphanet:255249 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016817
name: Meier-Gorlin syndrome
def: "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." [Orphanet:2554]
subset: gard_rare {source="GARD:2033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1077"}
subset: ordo_disorder {source="Orphanet:2554"}
subset: ordo_malformation_syndrome {source="Orphanet:2554"}
subset: orphanet_rare {source="Orphanet:2554"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ear-patella-short stature syndrome" EXACT [DOID:0060306]
synonym: "Meier-Gorlin syndrome" EXACT [Orphanet:2554]
xref: DOID:0060306 {source="MONDO:equivalentTo"}
xref: GARD:2033 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2554/attributed", source="Orphanet:2554/ntbt", source="Orphanet:2554"}
xref: MedDRA:10070612 {source="Orphanet:2554", source="Orphanet:2554/e"}
xref: MEDGEN:401501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538012 {source="Orphanet:2554", source="MONDO:equivalentTo", source="DOID:0060306", source="Orphanet:2554/e"}
xref: NORD:1077 {source="MONDO:NORD"}
xref: OMIMPS:224690 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2554 {source="MONDO:equivalentTo", source="DOID:0060306"}
xref: SCTID:703508009 {source="DOID:0060306"}
xref: UMLS:C1868684 {source="MONDO:equivalentTo", source="MEDGEN:401501", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0060306", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015160 {source="Orphanet:2554"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:2554"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:224690"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0016818
name: Mikati-Najjar-Sahli syndrome
def: "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." [Orphanet:2558]
subset: gard_rare {source="GARD:3617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2558"}
subset: ordo_malformation_syndrome {source="Orphanet:2558"}
subset: orphanet_rare {source="Orphanet:2558"}
subset: rare
synonym: "microcephaly-hypergonadotropic hypogonadism-short stature syndrome" EXACT [Orphanet:2558]
xref: GARD:3617 {source="MONDO:GARD"}
xref: ICD10CM:E22.8 {source="Orphanet:2558", source="Orphanet:2558/attributed", source="Orphanet:2558/ntbt"}
xref: MEDGEN:1376092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2558 {source="MONDO:equivalentTo"}
xref: UMLS:C4518578 {source="MEDGEN:1376092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare

[Term]
id: MONDO:0016819
name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
def: "This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." [Orphanet:2560]
subset: gard_rare {source="GARD:3698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2560"}
subset: ordo_malformation_syndrome {source="Orphanet:2560"}
subset: orphanet_rare {source="Orphanet:2560"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Moebius axonal neuropathy hypogonadism" EXACT [MONDO:0023820]
synonym: "Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type" RELATED [GARD:0003698]
xref: GARD:3698 {source="MONDO:GARD"}
xref: MEDGEN:419697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535806 {source="MONDO:equivalentTo"}
xref: Orphanet:2560 {source="MONDO:equivalentTo"}
xref: UMLS:C2931024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419697"}
is_a: MONDO:0002146 {source="MESH:C535806"} ! hypogonadism
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0008006 {source="MESH:C535806"} ! Mobius syndrome
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7198" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism" xsd:anyURI {source="GARD:0003698"}

[Term]
id: MONDO:0016820
name: Moyamoya disease
def: "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." [Orphanet:2573]
subset: gard_rare {source="GARD:7064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1457"}
subset: ordo_disorder {source="Orphanet:2573"}
subset: orphanet_rare {source="Orphanet:2573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic Moyamoya disease" EXACT [Orphanet:2573]
synonym: "Moyamoya disease, primary" RELATED [GARD:0007064]
synonym: "Moyamoya disease, secondary" RELATED [GARD:0007064]
synonym: "MYMY" RELATED ABBREVIATION [GARD:0007064]
synonym: "progressive intracranial arterial occlusion" EXACT [DOID:13099]
xref: DOID:13099 {source="MONDO:equivalentTo"}
xref: GARD:7064 {source="MONDO:GARD"}
xref: ICD10CM:I67.5 {source="Orphanet:2573", source="Orphanet:2573/e", source="DOID:13099", source="Orphanet:2573/specific"}
xref: icd11.foundation:1746892088 {source="Orphanet:2573", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:437.5 {source="DOID:13099"}
xref: MedDRA:10028047 {source="Orphanet:2573", source="Orphanet:2573/e"}
xref: MEDGEN:7726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536991 {source="Orphanet:2573", source="Orphanet:2573/e"}
xref: MESH:D009072 {source="Orphanet:2573", source="MONDO:equivalentTo", source="Orphanet:2573/e", source="DOID:13099"}
xref: NANDO:1200183 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100228 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200850 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84895 {source="MONDO:equivalentTo", source="DOID:13099"}
xref: NORD:1457 {source="MONDO:NORD"}
xref: OMIMPS:252350 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2573 {source="MONDO:equivalentTo", source="DOID:13099"}
xref: Orphanet:280679 {source="DOID:13099"}
xref: Orphanet:401945 {source="DOID:13099"}
xref: SCTID:69116000 {source="DOID:13099"}
xref: SCTID:89142007 {source="MONDO:equivalentTo", source="DOID:13099"}
xref: UMLS:C0026654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7726"}
is_a: MONDO:0006693 {source="DOID:13099", source="MESH:D009072"} ! cerebral arterial disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:252350"} ! inherited

[Term]
id: MONDO:0016821
name: shoulder and girdle defects-familial intellectual disability syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:2580"}
synonym: "shoulder girdle defect intellectual disability familial" RELATED [GARD:0004860]
synonym: "shoulder girdle defect mental retardation familial" RELATED DEPRECATED [GARD:0004860]
xref: ICD10CM:Q87.2 {source="Orphanet:2580/attributed", source="Orphanet:2580/ntbt", source="Orphanet:2580"}
xref: Orphanet:2580 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2580", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016822
name: myalgia-eosinophilia syndrome associated with tryptophan
def: "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities." [Orphanet:2582]
subset: gard_rare {source="GARD:18775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2582"}
subset: ordo_malformation_syndrome {source="Orphanet:2582"}
subset: orphanet_rare {source="Orphanet:2582"}
subset: rare
xref: GARD:18775 {source="MONDO:GARD"}
xref: ICD10CM:M35.8 {source="Orphanet:2582/ntbt", source="Orphanet:2582"}
xref: MedDRA:10014952 {source="Orphanet:2582/e", source="Orphanet:2582"}
xref: MEDGEN:698358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016603 {source="MONDO:relatedTo", source="Orphanet:2582/e", source="Orphanet:2582"}
xref: Orphanet:2582 {source="MONDO:equivalentTo"}
xref: UMLS:C1275050 {source="MONDO:equivalentTo", source="MEDGEN:698358", source="MONDO:MEDGEN"}
is_a: MONDO:0005554 {source="Orphanet:2582"} ! rheumatic disorder

[Term]
id: MONDO:0016823
name: mycetoma
def: "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains." [Orphanet:2583]
subset: gard_rare {source="GARD:3862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2583"}
subset: orphanet_rare {source="Orphanet:2583"}
subset: rare
synonym: "Madura foot" EXACT [Orphanet:2583]
xref: GARD:3862 {source="MONDO:GARD"}
xref: ICD10CM:B47 {source="MONDO:equivalentTo"}
xref: ICD10CM:B47.0 {source="Orphanet:2583", source="Orphanet:2583/btnt"}
xref: ICD10CM:B47.1 {source="Orphanet:2583", source="Orphanet:2583/btnt"}
xref: ICD10CM:B47.9 {source="Orphanet:2583", source="Orphanet:2583/btnt"}
xref: MedDRA:10028427 {source="Orphanet:2583", source="Orphanet:2583/e"}
xref: MEDGEN:44241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008271 {source="Orphanet:2583", source="MONDO:equivalentTo", source="Orphanet:2583/e"}
xref: NCIT:C85505 {source="MONDO:equivalentTo"}
xref: Orphanet:2583 {source="MONDO:equivalentTo"}
xref: SCTID:410039003 {source="MONDO:equivalentTo"}
xref: UMLS:C0024449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44241"}
is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C85505"} ! infectious disease
is_a: MONDO:0019296 {source="https://github.com/monarch-initiative/mondo/issues/581"} ! subcutaneous tissue disorder
relationship: disease_has_location UBERON:0002072 ! hypodermis
relationship: excluded_subClassOf MONDO:0002041 {source="Orphanet:2583", source="https://orcid.org/0000-0001-5208-3432"} ! fungal infectious disease
relationship: excluded_subClassOf MONDO:0005113 {source="Orphanet:2583", source="https://orcid.org/0000-0001-5208-3432"} ! bacterial infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575", source="MONDO:0015578"} ! rare

[Term]
id: MONDO:0016824
name: infantile myofibromatosis
def: "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." [NCIT:C3742]
subset: gard_rare {source="GARD:2998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1301"}
subset: ordo_disorder {source="Orphanet:2591"}
subset: orphanet_rare {source="Orphanet:2591"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMS" RELATED ABBREVIATION [ONCOTREE:IMS]
synonym: "infantile hemangiopericytoma" EXACT [NCIT:C3742]
synonym: "infantile myofibromatosis" EXACT [NCIT:C3742]
synonym: "multicentric myofibromatosis" EXACT [NCIT:C3742]
synonym: "myofibromatosis" EXACT [NCIT:C3742]
xref: DOID:0080109 {source="MONDO:equivalentTo"}
xref: GARD:2998 {source="MONDO:GARD"}
xref: ICD10CM:D48.1 {source="Orphanet:2591/attributed", source="Orphanet:2591/ntbt", source="Orphanet:2591"}
xref: ICDO:8824/1 {source="NCIT:C3742"}
xref: MEDGEN:140933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018224 {source="MONDO:equivalentTo"}
xref: NCIT:C3742 {source="MONDO:equivalentTo"}
xref: NORD:1301 {source="MONDO:NORD"}
xref: OMIMPS:228550 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: ONCOTREE:IMS {source="MONDO:equivalentTo"}
xref: Orphanet:2591 {source="MONDO:equivalentTo", source="DOID:0080109"}
xref: SCTID:254146000 {source="GARD:0002998"}
xref: UMLS:C0432284 {source="MEDGEN:140933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000654 {source="DOID:0080109", source="NCIT:C3742/inferred"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0003342 {source="NCIT:C3742"} ! benign perivascular tumor
is_a: MONDO:0006424 {source="Orphanet:2591"} ! soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0016123 {source="Orphanet:2591", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:2591", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:228550"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis" xsd:anyURI {source="GARD:0002998"}

[Term]
id: MONDO:0016825
name: mitochondrial myopathy-lactic acidosis-deafness syndrome
def: "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." [Orphanet:2597]
subset: gard_rare {source="GARD:3682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2597"}
subset: orphanet_rare {source="Orphanet:2597"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness" RELATED [GARD:0003682]
synonym: "mitochondrial myopathy with lactic acidosis" EXACT [MONDO:Lexical, OMIM:251950]
synonym: "mitochondrial myopathy-lactic acidosis-hearing loss syndrome" EXACT [Orphanet:2597]
synonym: "MMLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251950]
xref: GARD:3682 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:2597", source="Orphanet:2597/attributed", source="Orphanet:2597/ntbt"}
xref: MEDGEN:343245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537476 {source="Orphanet:2597", source="MONDO:equivalentTo", source="Orphanet:2597/e"}
xref: OMIM:251950 {source="Orphanet:2597", source="Orphanet:2597/ntbt", source="MONDO:equivalentTo"}
xref: Orphanet:2597 {source="MONDO:equivalentTo", source="OMIM:251950"}
xref: UMLS:C1855033 {source="MONDO:equivalentTo", source="MEDGEN:343245", source="MONDO:MEDGEN"}
is_a: MONDO:0009637 {source="MESH:C537476", source="https://orcid.org/0000-0002-6601-2165"} ! inborn mitochondrial myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28900 {source="MONDO:mim2gene_medgen"} ! PNPLA8
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis" xsd:anyURI {source="GARD:0003682"}

[Term]
id: MONDO:0016826
name: methylmalonic aciduria and homocystinuria
def: "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." [https://orcid.org/0000-0001-5208-3432, Orphanet:26]
subset: gard_rare {source="GARD:3579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:26"}
subset: orphanet_rare {source="Orphanet:26"}
subset: rare
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis" EXACT [Orphanet:26]
synonym: "methylmalonic acidemia and homocystinemia" RELATED [GARD:0003579]
synonym: "methylmalonic aciduria with homocystinuria" EXACT [Orphanet:26]
xref: GARD:3579 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:26", source="Orphanet:26/attributed", source="Orphanet:26/ntbt"}
xref: MESH:C537359 {source="MONDO:equivalentTo", source="Orphanet:26", source="Orphanet:26/e"}
xref: OMIMPS:277400 {source="MONDO:equivalentTo"}
xref: Orphanet:26 {source="MONDO:equivalentTo"}
is_a: MONDO:0002012 {source="MONDO:Redundant"} ! methylmalonic acidemia
is_a: MONDO:0004737 {source="MONDO:Redundant"} ! homocystinuria
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0019215 {source="Orphanet:26"} ! classic organic aciduria
is_a: MONDO:0019220 {source="Orphanet:26"} ! inborn disorder of cobalamin metabolism and transport
intersection_of: MONDO:0002012 ! methylmalonic acidemia
intersection_of: MONDO:0004737 ! homocystinuria
disjoint_from: MONDO:0018964 ! homocystinuria without methylmalonic aciduria
relationship: disease_has_feature HP:0002156 ! Homocystinuria
relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:277400"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria" xsd:anyURI {source="GARD:0003579"}

[Term]
id: MONDO:0016827
name: myopathy-growth delay-intellectual disability-hypospadias syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:2601"}
xref: ICD10CM:G71.8 {source="Orphanet:2601", source="Orphanet:2601/attributed", source="Orphanet:2601/ntbt"}
xref: Orphanet:2601 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2601", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016828
name: autosomal recessive sideroblastic anemia
def: "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." [Orphanet:260305]
subset: gard_rare {source="GARD:17240", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:260305"}
subset: orphanet_rare {source="Orphanet:260305"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARSA" EXACT ABBREVIATION [Orphanet:260305]
synonym: "congenital sideroblastic anaemia" BROAD OMO:0003005 []
synonym: "congenital sideroblastic anemia" BROAD [Orphanet:260305]
synonym: "sideroblastic anemia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:17240 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:260305/attributed", source="Orphanet:260305/ntbt", source="Orphanet:260305"}
xref: MEDGEN:895586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:260305 {source="MONDO:equivalentTo"}
xref: SCTID:717050005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274077 {source="MEDGEN:895586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0020099 {source="Orphanet:260305"} ! inherited sideroblastic anemia
intersection_of: MONDO:0015194 ! sideroblastic anemia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic HP:0000007 {source="Orphanet:260305"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0016829
name: familial visceral myopathy
def: "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." [Orphanet:2604]
subset: gard_rare {source="GARD:3443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2604"}
subset: orphanet_rare {source="Orphanet:2604"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hollow visceral myopathy" EXACT [Orphanet:2604]
synonym: "hereditary hollow visceral myopathy" EXACT [Orphanet:2604]
synonym: "megaduodenum and/or megacystis" EXACT [Orphanet:2604]
synonym: "pseudoobstruction idiopathic intestinal" RELATED [GARD:0003443]
synonym: "visceral myopathy familial" RELATED [GARD:0003443]
xref: GARD:3443 {source="MONDO:GARD"}
xref: ICD10CM:K56.0 {source="Orphanet:2604/attributed", source="Orphanet:2604/ntbt", source="Orphanet:2604"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2604 {source="MONDO:equivalentTo"}
xref: SCTID:63684002 {source="MONDO:equivalentTo"}
xref: UMLS:C0266833 {source="MEDGEN:120590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020754 {source="https://github.com/monarch-initiative/mondo/issues/2948", source="https://orcid.org/0000-0001-5493-2602"} ! visceral myopathy 1
is_a: MONDO:0021189 {source="Orphanet:2604"} ! intestinal motility disease
relationship: excluded_subClassOf MONDO:0007960 {source="Orphanet:2604", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome

[Term]
id: MONDO:0016830
name: Emery-Dreifuss muscular dystrophy
def: "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." [Orphanet:261]
subset: gard_rare {source="GARD:6329", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1084", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261"}
subset: orphanet_rare {source="Orphanet:261"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDMD" EXACT ABBREVIATION [DOID:11726, Orphanet:261]
synonym: "Emery Dreifuss Muscular Dystrophy" EXACT [NORD:1084]
synonym: "Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL []
synonym: "Humeroperoneal neuromuscular disease, (formerly)" RELATED [GARD:0006329]
synonym: "scapuloperoneal syndrome, X-linked (formerly)" RELATED [GARD:0006329]
xref: DOID:11726 {source="MONDO:equivalentTo"}
xref: GARD:6329 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:261/inclusion", source="Orphanet:261", source="Orphanet:261/ntbt"}
xref: icd11.foundation:749295636 {source="MONDO:equivalentTo", source="Orphanet:261"}
xref: MEDGEN:96078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020389 {source="MONDO:equivalentTo", source="DOID:11726", source="Orphanet:261", source="Orphanet:261/e"}
xref: NANDO:1200492 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200857 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84685 {source="MONDO:equivalentTo", source="DOID:11726"}
xref: NORD:1084 {source="MONDO:NORD"}
xref: OMIMPS:310300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:261 {source="MONDO:equivalentTo", source="DOID:11726"}
xref: SCTID:111508004 {source="MONDO:equivalentTo", source="DOID:11726"}
xref: SCTID:129620000 {source="DOID:11726"}
xref: SCTID:193233004 {source="DOID:11726"}
xref: UMLS:C0410189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96078"}
is_a: MONDO:0016106 {source="Orphanet:261"} ! progressive muscular dystrophy
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0019056 ! neuromuscular disease
is_a: MONDO:0020121 {source="DOID:11726", source="MESH:D020389", source="MONDO:Redundant", source="NCIT:C84685", source="Orphanet:261/inferred"} ! muscular dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:310300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0016831
name: linear verrucous nevus syndrome
subset: gard_rare {source="GARD:3259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2611"}
subset: orphanet_rare {source="Orphanet:2611"}
subset: rare
synonym: "linear hamartoma syndrome" EXACT [Orphanet:2611]
xref: GARD:3259 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:2611", source="Orphanet:2611/ntbt"}
xref: MEDGEN:1806291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2611 {source="MONDO:equivalentTo"}
xref: UMLS:C5679838 {source="MONDO:equivalentTo", source="MEDGEN:1806291", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="Orphanet:2611"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare

[Term]
id: MONDO:0016832
name: distal 7q11.23 microduplication syndrome
def: "Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported." [Orphanet:261102]
subset: gard_rare {source="GARD:20770", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:261102"}
subset: ordo_malformation_syndrome {source="Orphanet:261102"}
subset: orphanet_rare {source="Orphanet:261102"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal dup(7)(q11.23)" EXACT [Orphanet:261102]
synonym: "distal trisomy 7q11.23" EXACT [Orphanet:261102]
synonym: "Dup7q11.23D" EXACT [Orphanet:261102]
xref: GARD:20770 {source="MONDO:GARD"}
xref: MEDGEN:1662568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261102 {source="MONDO:equivalentTo"}
xref: UMLS:C4750782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1662568"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016958 {source="Orphanet:261102"} ! partial duplication of the long arm of chromosome 7
relationship: disease_arises_from_structure CHR:9606-chr7q11.23 {source="https://orcid.org/0000-0002-4142-7153"} ! 7q11.23 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016833
name: 14q12 microdeletion syndrome
def: "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." [Orphanet:261144]
subset: gard_rare {source="GARD:20771", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:261144"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261144"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(14)(q12)" EXACT [Orphanet:261144]
synonym: "monosomy 14q12" EXACT [Orphanet:261144]
xref: GARD:20771 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261144", source="Orphanet:261144/attributed", source="Orphanet:261144/ntbt"}
xref: MEDGEN:930909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261144 {source="MONDO:equivalentTo"}
xref: SCTID:719574007 {source="MONDO:equivalentTo"}
xref: UMLS:C4305240 {source="MEDGEN:930909", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016912 {source="Orphanet:261144"} ! partial deletion of the long arm of chromosome 14
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr14q12 ! 14q12 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016834
name: 16p11.2p12.2 microduplication syndrome
def: "16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described." [Orphanet:261204]
subset: gard_rare {source="GARD:20772", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261204"}
subset: ordo_malformation_syndrome {source="Orphanet:261204"}
subset: orphanet_rare {source="Orphanet:261204"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "16p11.2 microduplication syndrome" EXACT [DECIPHER:78, Orphanet:261204]
synonym: "16p11.2-p12.2 microduplication syndrome" EXACT [DECIPHER:96]
synonym: "dup(16)(p11.2p12.2)" EXACT [Orphanet:261204]
synonym: "trisomy 16p11.2p12.2" EXACT [Orphanet:261204]
xref: DECIPHER:78 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: DECIPHER:96 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:20772 {source="MONDO:GARD"}
xref: MEDGEN:1377902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261204 {source="MONDO:equivalentTo"}
xref: SCTID:733518000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518821 {source="MEDGEN:1377902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016949 {source="Orphanet:261204"} ! partial duplication of the short arm of chromosome 16
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr16p11.2-p12.2 ! 16p11.2-p12.2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6311" xsd:anyURI

[Term]
id: MONDO:0016835
name: 14q11.2 microduplication syndrome
def: "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate." [Orphanet:261229]
subset: gard_rare {source="GARD:20773", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261229"}
subset: ordo_malformation_syndrome {source="Orphanet:261229"}
subset: orphanet_rare {source="Orphanet:261229"}
subset: rare
synonym: "dup(14)(q11.2)" EXACT [Orphanet:261229]
synonym: "trisomy 14q11.2" EXACT [Orphanet:261229]
xref: GARD:20773 {source="MONDO:GARD"}
xref: MEDGEN:1657429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261229 {source="MONDO:equivalentTo"}
xref: UMLS:C4749855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657429"}
is_a: MONDO:0016964 {source="Orphanet:261229"} ! partial duplication of the long arm of chromosome 14
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr14q11.2 ! 14q11.2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016836
name: 16p13.11 microdeletion syndrome
def: "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." [Orphanet:261236]
subset: gard_rare {source="GARD:20774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261236"}
subset: ordo_malformation_syndrome {source="Orphanet:261236"}
subset: orphanet_rare {source="Orphanet:261236"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)" EXACT [DECIPHER:79]
synonym: "Del(16)(p13.11)" EXACT [Orphanet:261236]
synonym: "monosomy 16p13.11" EXACT [Orphanet:261236]
xref: DECIPHER:79 {source="MONDO:equivalentTo"}
xref: GARD:20774 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261236/attributed", source="Orphanet:261236/ntbt", source="Orphanet:261236"}
xref: MEDGEN:930265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261236 {source="MONDO:equivalentTo"}
xref: SCTID:719577000 {source="MONDO:equivalentTo"}
xref: UMLS:C4304596 {source="MEDGEN:930265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016894 {source="Orphanet:261236"} ! partial deletion of the short arm of chromosome 16
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16p13.11 ! 16p13.11 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016837
name: 16p13.11 microduplication syndrome
def: "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." [Orphanet:261243]
subset: gard_rare {source="GARD:20775", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261243"}
subset: ordo_malformation_syndrome {source="Orphanet:261243"}
subset: orphanet_rare {source="Orphanet:261243"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)" EXACT [DECIPHER:80]
synonym: "dup(16)(p13.11)" EXACT [Orphanet:261243]
synonym: "trisomy 16p13.11" EXACT [Orphanet:261243]
xref: DECIPHER:80 {source="MONDO:equivalentTo"}
xref: GARD:20775 {source="MONDO:GARD"}
xref: MEDGEN:930264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261243 {source="MONDO:equivalentTo"}
xref: SCTID:719578005 {source="MONDO:equivalentTo"}
xref: UMLS:C4304595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930264"}
is_a: MONDO:0016949 {source="Orphanet:261243"} ! partial duplication of the short arm of chromosome 16
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr16p13.11 ! 16p13.11 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13392/16p1311-microduplication-syndrome" xsd:anyURI {source="GARD:0013392"}

[Term]
id: MONDO:0016838
name: 16q24.3 microdeletion syndrome
def: "16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder." [Orphanet:261250]
subset: gard_rare {source="GARD:10935", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261250"}
subset: ordo_malformation_syndrome {source="Orphanet:261250"}
subset: orphanet_rare {source="Orphanet:261250"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 16q24.3 microdeletion syndrome" RELATED [GARD:0010935]
synonym: "Del(16)(q24.3)" EXACT [Orphanet:261250]
synonym: "monosomy 16q24.3" EXACT [Orphanet:261250]
xref: GARD:10935 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261250/attributed", source="Orphanet:261250/ntbt", source="Orphanet:261250"}
xref: MEDGEN:930263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261250 {source="MONDO:equivalentTo"}
xref: SCTID:719580004 {source="MONDO:equivalentTo"}
xref: UMLS:C4304594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930263"}
is_a: MONDO:0016914 {source="Orphanet:261250"} ! partial deletion of the long arm of chromosome 16
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16q24.3 ! 16q24.3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome" xsd:anyURI {source="GARD:0010935"}

[Term]
id: MONDO:0016839
name: distal 17p13.3 microdeletion syndrome
def: "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly." [Orphanet:261257]
subset: gard_rare {source="GARD:20776", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261257"}
subset: ordo_malformation_syndrome {source="Orphanet:261257"}
subset: orphanet_rare {source="Orphanet:261257"}
subset: rare
synonym: "distal del(17)(p13.3)" EXACT [Orphanet:261257]
synonym: "distal monosomy 17p13.3" EXACT [Orphanet:261257]
xref: GARD:20776 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261257", source="Orphanet:261257/attributed", source="Orphanet:261257/ntbt"}
xref: MEDGEN:1643975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261257 {source="MONDO:equivalentTo"}
xref: SCTID:764696007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643975"}
is_a: MONDO:0022754 {source="Orphanet:261257"} ! chromosome 17p deletion
relationship: disease_arises_from_structure CHR:9606-chr17p13.3 {source="https://orcid.org/0000-0002-4142-7153"} ! 17p13.3 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016840
name: trisomy 17p
def: "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." [Orphanet:261290]
subset: gard_rare {source="GARD:5318", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261290"}
subset: ordo_malformation_syndrome {source="Orphanet:261290"}
subset: orphanet_rare {source="Orphanet:261290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17p duplication" RELATED [GARD:0005318]
synonym: "17p trisomy" RELATED [GARD:0005318]
synonym: "chromosome 17p duplication" RELATED [GARD:0005318]
synonym: "dup(17p)" EXACT [Orphanet:261290]
synonym: "Duplication 17p" RELATED [GARD:0005318]
synonym: "partial trisomy 17p" RELATED [GARD:0005318]
synonym: "trisomy type 17p" EXACT [MONDORULE:4, Orphanet:261290]
xref: GARD:5318 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:261290/attributed", source="Orphanet:261290/ntbt", source="Orphanet:261290"}
xref: MEDGEN:167078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538048 {source="MONDO:equivalentTo"}
xref: Orphanet:261290 {source="MONDO:equivalentTo"}
xref: SCTID:717049005 {source="MONDO:equivalentTo"}
xref: UMLS:C0795865 {source="MEDGEN:167078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016950 {source="Orphanet:261290"} ! partial duplication of the short arm of chromosome 17

[Term]
id: MONDO:0016841
name: 20p12.3 microdeletion syndrome
def: "20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism." [Orphanet:261295]
subset: gard_rare {source="GARD:12492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261295"}
subset: ordo_malformation_syndrome {source="Orphanet:261295"}
subset: orphanet_rare {source="Orphanet:261295"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(20)(p12.3)" EXACT [Orphanet:261295]
synonym: "monosomy 20p12.3" EXACT [Orphanet:261295]
xref: GARD:12492 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261295", source="Orphanet:261295/attributed", source="Orphanet:261295/ntbt"}
xref: MEDGEN:930208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261295 {source="MONDO:equivalentTo"}
xref: SCTID:719650004 {source="MONDO:equivalentTo"}
xref: UMLS:C4304539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930208"}
is_a: MONDO:0016898 {source="Orphanet:261295"} ! partial monosomy of the short arm of chromosome 20
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr20p12.3 ! 20p12.3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome" xsd:anyURI {source="GARD:0012492"}

[Term]
id: MONDO:0016842
name: paternal 20q13.2q13.3 microdeletion syndrome
def: "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." [Orphanet:261304]
subset: gard_rare {source="GARD:20777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261304"}
subset: ordo_malformation_syndrome {source="Orphanet:261304"}
subset: orphanet_rare {source="Orphanet:261304"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paternal 20q13.2-q13.3 microdeletion syndrome" EXACT [Orphanet:261304]
synonym: "paternal del(20)(q13.2q13.3)" EXACT [Orphanet:261304]
synonym: "paternal monosomy 20q13.2-q13.3" EXACT [Orphanet:261304]
synonym: "paternal monosomy 20q13.2q13.3" EXACT [Orphanet:261304]
xref: GARD:20777 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261304/attributed", source="Orphanet:261304/ntbt", source="Orphanet:261304"}
xref: MEDGEN:1390091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261304 {source="MONDO:equivalentTo"}
xref: SCTID:724070005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1390091"}
is_a: MONDO:0016918 {source="Orphanet:261304"} ! partial deletion of the long arm of chromosome 20
relationship: disease_arises_from_structure CHR:9606-chr20q13.2-q13.3 {source="https://orcid.org/0000-0002-4142-7153"} ! 20q13.2-q13.3 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016843
name: 20q13.33 microdeletion syndrome
def: "20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated." [Orphanet:261311]
subset: gard_rare {source="GARD:20778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261311"}
subset: ordo_malformation_syndrome {source="Orphanet:261311"}
subset: orphanet_rare {source="Orphanet:261311"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(20)(q13.33)" EXACT [Orphanet:261311]
synonym: "monosomy 20q13.33" EXACT [Orphanet:261311]
xref: GARD:20778 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261311", source="Orphanet:261311/attributed", source="Orphanet:261311/ntbt"}
xref: MEDGEN:1384661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261311 {source="MONDO:equivalentTo"}
xref: SCTID:733520002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1384661"}
is_a: MONDO:0016918 {source="Orphanet:261311"} ! partial deletion of the long arm of chromosome 20
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr20q13.33 ! 20q13.33 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016844
name: trisomy 20p
def: "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." [Orphanet:261318]
subset: gard_rare {source="GARD:5333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261318"}
subset: ordo_malformation_syndrome {source="Orphanet:261318"}
subset: orphanet_rare {source="Orphanet:261318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "20p duplication" RELATED [GARD:0005333]
synonym: "20p trisomy" RELATED [GARD:0005333]
synonym: "chromosome 20p duplication" RELATED [GARD:0005333]
synonym: "dup(20p)" EXACT [Orphanet:261318]
synonym: "Duplication 20p" RELATED [GARD:0005333]
synonym: "Duplication of 20p" EXACT [Orphanet:261318]
synonym: "partial duplication of chromosome 20p" EXACT [Orphanet:261318]
synonym: "partial duplication of the short arm of chromosome 20" EXACT [Orphanet:261318]
synonym: "partial trisomy 20p" RELATED [GARD:0005333]
synonym: "partial trisomy of chromosome 20p" EXACT [Orphanet:261318]
synonym: "partial trisomy of the short arm of chromosome 20" EXACT [Orphanet:261318]
synonym: "trisomy 20p" EXACT [GARD:0005333]
synonym: "trisomy type 20p" EXACT [MONDORULE:4, Orphanet:261318]
xref: GARD:5333 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:261318/attributed", source="Orphanet:261318/ntbt", source="Orphanet:261318"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:418939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535371 {source="MONDO:equivalentTo"}
xref: Orphanet:261318 {source="MONDO:equivalentTo"}
xref: SCTID:111311004 {source="MONDO:equivalentTo"}
xref: UMLS:C2930888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418939"}
is_a: MONDO:0016938 {source="Orphanet:261318"} ! partial trisomy of chromosome 20

[Term]
id: MONDO:0016845
name: 21q22.11q22.12 microdeletion syndrome
subset: gard_rare {source="GARD:20779", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261323"}
subset: ordo_malformation_syndrome {source="Orphanet:261323"}
subset: orphanet_rare {source="Orphanet:261323"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "21q22.11-q22.12 microdeletion syndrome" EXACT [Orphanet:261323]
synonym: "Del(21)(q22.11q22.12)" EXACT [Orphanet:261323]
synonym: "monosomy 21q22.11-q22.12" EXACT [Orphanet:261323]
synonym: "monosomy 21q22.11q22.12" EXACT [Orphanet:261323]
xref: GARD:20779 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261323", source="Orphanet:261323/attributed", source="Orphanet:261323/ntbt"}
xref: MEDGEN:1681958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261323 {source="MONDO:equivalentTo"}
xref: UMLS:C5192593 {source="MEDGEN:1681958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016919 {source="Orphanet:261323"} ! partial deletion of the long arm of chromosome 21
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr21q22.11-q22.12 ! 21q22.11-q22.12 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016846
name: distal 22q11.2 microduplication syndrome
def: "Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported." [Orphanet:261337]
subset: gard_rare {source="GARD:20780", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261337"}
subset: ordo_malformation_syndrome {source="Orphanet:261337"}
subset: orphanet_rare {source="Orphanet:261337"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal dup(22)(q11.2)" EXACT [Orphanet:261337]
synonym: "distal trisomy 22q11.2" EXACT [Orphanet:261337]
xref: GARD:20780 {source="MONDO:GARD"}
xref: MEDGEN:1637660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261337 {source="MONDO:equivalentTo"}
xref: SCTID:764524005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706942 {source="MEDGEN:1637660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016972 {source="Orphanet:261337"} ! partial duplication of the long arm of chromosome 22
relationship: disease_arises_from_structure CHR:9606-chr22q11.2 {source="https://orcid.org/0000-0002-4142-7153"} ! 22q11.2 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016847
name: trisomy 1q
def: "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections." [Orphanet:261344]
subset: gard_rare {source="GARD:20781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261344"}
subset: ordo_malformation_syndrome {source="Orphanet:261344"}
subset: orphanet_rare {source="Orphanet:261344"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Duplication 1q" EXACT [Orphanet:261344]
synonym: "trisomy type 1q" EXACT [MONDORULE:4, Orphanet:261344]
xref: GARD:20781 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:261344", source="Orphanet:261344/attributed", source="Orphanet:261344/ntbt"}
xref: MEDGEN:1636619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261344 {source="MONDO:equivalentTo"}
xref: SCTID:768927001 {source="MONDO:equivalentTo"}
xref: UMLS:C4708596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636619"}
is_a: MONDO:0016952 {source="Orphanet:261344"} ! partial duplication of the long arm of chromosome 1

[Term]
id: MONDO:0016848
name: juvenile temporal arteritis
def: "Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs." [https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis]
subset: gard_rare {source="GARD:3068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:26137"}
subset: orphanet_rare {source="Orphanet:26137"}
subset: rare
synonym: "JGCA" RELATED ABBREVIATION [GARD:0003068]
synonym: "JPMR" RELATED ABBREVIATION [GARD:0003068]
synonym: "JTA" EXACT ABBREVIATION [Orphanet:26137]
synonym: "juvenile cranial arteritis" RELATED [GARD:0003068]
synonym: "juvenile giant cell arteritis" RELATED [GARD:0003068]
synonym: "juvenile polymyalgia rheumatica" RELATED [GARD:0003068]
synonym: "non-giant cell granulomatous temporal arteritis with eosinophilia" EXACT [Orphanet:26137]
xref: GARD:3068 {source="MONDO:GARD"}
xref: ICD10CM:L95.8 {source="Orphanet:26137/ntbt", source="Orphanet:26137"}
xref: MEDGEN:155583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:26137 {source="MONDO:equivalentTo"}
xref: SCTID:722020006 {source="MONDO:equivalentTo"}
xref: UMLS:C0751547 {source="MEDGEN:155583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0018882 {source="https://orcid.org/0000-0002-3458-4839"} ! vasculitis
is_a: MONDO:0021166 {source="https://orcid.org/0000-0003-4830-7530"} ! inflammatory disease
is_a: MONDO:0043494 {source="PMID:30844551", source="https://orcid.org/0009-0001-6494-4831"} ! arteritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis" xsd:anyURI {source="GARD:0003068"}

[Term]
id: MONDO:0016849
name: obsolete Nakajo-Nishimura syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1271" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009726

[Term]
id: MONDO:0016850
name: atypical Norrie disease due to monosomy Xp11.3
def: "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported." [Orphanet:261501]
subset: gard_rare {source="GARD:20782", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261501"}
subset: ordo_malformation_syndrome {source="Orphanet:261501"}
subset: orphanet_rare {source="Orphanet:261501"}
subset: rare
synonym: "atypical Norrie disease due to del(X)(p11.3)" EXACT [Orphanet:261501]
synonym: "atypical Norrie disease due to Xp11.3 microdeletion" EXACT [Orphanet:261501]
xref: GARD:20782 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:261501", source="Orphanet:261501/attributed", source="Orphanet:261501/ntbt"}
xref: MEDGEN:1377538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261501 {source="MONDO:equivalentTo"}
xref: SCTID:733626002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518083 {source="MEDGEN:1377538", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017004 {source="Orphanet:261501", source="https://orcid.org/0000-0001-5208-3432"} ! partial monosomy of the short arm of chromosome X
relationship: disease_arises_from_structure CHR:9606-chrXp11.3 {source="https://orcid.org/0000-0002-4142-7153"} ! Xp11.3 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016851
name: maternal uniparental disomy of chromosome X
subset: gard_rare {source="GARD:20783", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261519"}
subset: ordo_malformation_syndrome {source="Orphanet:261519"}
subset: orphanet_rare {source="Orphanet:261519"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261519]
synonym: "UPD(X)mat" EXACT [Orphanet:261519]
xref: GARD:20783 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:261519/attributed", source="Orphanet:261519/ntbt", source="Orphanet:261519"}
xref: MEDGEN:1673747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261519 {source="MONDO:equivalentTo"}
xref: UMLS:C5191056 {source="MEDGEN:1673747", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)

[Term]
id: MONDO:0016852
name: paternal uniparental disomy of chromosome X
subset: gard_rare {source="GARD:20784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261524"}
subset: ordo_malformation_syndrome {source="Orphanet:261524"}
subset: orphanet_rare {source="Orphanet:261524"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261524]
synonym: "UPD(X)pat" EXACT [Orphanet:261524]
xref: GARD:20784 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:261524/attributed", source="Orphanet:261524/ntbt", source="Orphanet:261524"}
xref: MEDGEN:1683101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261524 {source="MONDO:equivalentTo"}
xref: UMLS:C5191049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683101"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)

[Term]
id: MONDO:0016853
name: ring chromosome Y
def: "Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed." [Orphanet:261529]
subset: gard_rare {source="GARD:20785", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261529"}
subset: ordo_malformation_syndrome {source="Orphanet:261529"}
subset: orphanet_rare {source="Orphanet:261529"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "r(Y)" EXACT [Orphanet:261529]
synonym: "Ring chromosome type Y" EXACT [MONDORULE:1, Orphanet:261529]
synonym: "Ring chromosome Y syndrome" RELATED [Orphanet:261529]
xref: GARD:20785 {source="MONDO:GARD"}
xref: ICD10CM:Q98.6 {source="Orphanet:261529", source="Orphanet:261529/attributed", source="Orphanet:261529/ntbt"}
xref: MEDGEN:1631964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261529 {source="MONDO:equivalentTo"}
xref: SCTID:763407008 {source="MONDO:equivalentTo"}
xref: UMLS:C4706450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631964"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chrY ! chromosome Y (Human)

[Term]
id: MONDO:0016854
name: 49,XXXYY syndrome
def: "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome]
subset: gard_rare {source="GARD:10922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:261534"}
subset: ordo_malformation_syndrome {source="Orphanet:261534"}
subset: orphanet_rare {source="Orphanet:261534"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "49, XXXYY syndrome" RELATED [GARD:0010922]
synonym: "XXXYY syndrome" RELATED [GARD:0010922]
xref: GARD:10922 {source="MONDO:GARD"}
xref: ICD10CM:Q98.8 {source="Orphanet:261534", source="Orphanet:261534/attributed", source="Orphanet:261534/ntbt"}
xref: MEDGEN:1667231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261534 {source="MONDO:equivalentTo"}
xref: UMLS:C4749586 {source="MEDGEN:1667231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700064 {source="https://orcid.org/0000-0002-4142-7153"} ! aneuploidy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)
relationship: disease_arises_from_structure CHR:9606-chrY {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome" xsd:anyURI {source="GARD:0010922"}

[Term]
id: MONDO:0016855
name: Mowat-Wilson syndrome due to monosomy 2q22
subset: gard_rare {source="GARD:17248", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261537"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261537"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hirschsprung disease and intellectual disability due to 2q22 microdeletion" EXACT [Orphanet:261537]
synonym: "Hirschsprung disease and intellectual disability due to del(2)(q22)" EXACT [Orphanet:261537]
synonym: "Hirschsprung disease and intellectual disability due to monosomy 2q22" EXACT [Orphanet:261537]
synonym: "Mowat-Wilson syndrome due to 2q22 microdeletion" EXACT [Orphanet:261537]
synonym: "Mowat-Wilson syndrome due to del(2)q(22)" EXACT [Orphanet:261537]
synonym: "Mowat-Wilson syndrome due to monosomy type 2q22" EXACT [MONDORULE:7, Orphanet:261537]
xref: GARD:17248 {source="MONDO:GARD"}
xref: ICD10CM:Q43.1 {source="Orphanet:261537/attributed", source="Orphanet:261537/ntbt", source="Orphanet:261537"}
xref: MEDGEN:1723926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261537 {source="MONDO:equivalentTo"}
xref: UMLS:C5437617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1723926"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0009341 {source="Orphanet:261537"} ! Mowat-Wilson syndrome
is_a: MONDO:0016901 {source="Orphanet:261537"} ! partial deletion of the long arm of chromosome 2
relationship: disease_arises_from_structure CHR:9606-chr2q22 {source="https://orcid.org/0000-0002-4142-7153"} ! 2q22 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016856
name: Mowat-Wilson syndrome due to a ZEB2 point mutation
subset: gard_rare {source="GARD:17249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261552"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261552"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hirschsprung disease and intellectual disability due to a ZEB2 point mutation" EXACT [Orphanet:261552]
xref: GARD:17249 {source="MONDO:GARD"}
xref: ICD10CM:Q43.1 {source="Orphanet:261552", source="Orphanet:261552/attributed", source="Orphanet:261552/ntbt"}
xref: MEDGEN:1842263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261552 {source="MONDO:equivalentTo"}
xref: UMLS:C5679681 {source="MEDGEN:1842263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009341 {source="Orphanet:261552"} ! Mowat-Wilson syndrome
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0016857
name: blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
def: "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." [Orphanet:261559]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_etiological_subtype {source="Orphanet:261559"}
subset: rare
xref: ICD10CM:Q10.3 {source="Orphanet:261559/attributed", source="Orphanet:261559/ntbt", source="Orphanet:261559"}
xref: Orphanet:261559 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0007201 {source="Orphanet:261559"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome
is_a: MONDO:0016902 {source="Orphanet:261559"} ! partial deletion of the long arm of chromosome 3
relationship: disease_arises_from_structure CHR:9606-chr3q23 {source="https://orcid.org/0000-0002-4142-7153"} ! 3q23 (Human)
relationship: has_characteristic HP:0000006 {source="Orphanet:261559"} ! Autosomal dominant inheritance
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016858
name: blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
def: "Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." [Orphanet:261572]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_etiological_subtype {source="Orphanet:261572"}
subset: rare
synonym: "blepharophimosis types 1 and 2 due to a point mutation" EXACT [Orphanet:261572]
xref: ICD10CM:Q10.3 {source="Orphanet:261572/attributed", source="Orphanet:261572/ntbt", source="Orphanet:261572"}
xref: Orphanet:261572 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0007201 {source="Orphanet:261572"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome
relationship: has_characteristic HP:0000006 {source="Orphanet:261572"} ! Autosomal dominant inheritance
relationship: has_characteristic SO:1000008 ! point_mutation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016859
name: blepharophimosis-epicanthus inversus-ptosis due to copy number variations
def: "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." [Orphanet:261579]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_etiological_subtype {source="Orphanet:261579"}
subset: rare
synonym: "blepharophimosis types 1 and 2 due to copy number variations" EXACT [Orphanet:261579]
synonym: "blepharophimosis-epicanthus inversus-ptosis due to a CNV" EXACT [Orphanet:261579]
xref: ICD10CM:Q10.3 {source="Orphanet:261579/attributed", source="Orphanet:261579/ntbt", source="Orphanet:261579"}
xref: Orphanet:261579 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0007201 {source="Orphanet:261579"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome
relationship: has_characteristic HP:0000006 {source="Orphanet:261579"} ! Autosomal dominant inheritance
relationship: has_characteristic SO:0001019 ! copy_number_variation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0016860
name: familial adenomatous polyposis due to 5q22.2 microdeletion
subset: gard_rare {source="GARD:20786", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261584"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261584"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colorectal adenomatous polyposis due to monosomy 5q22.2" EXACT [Orphanet:261584]
synonym: "familial adenomatous polyposis due to del(5)(q22.2)" EXACT [Orphanet:261584]
synonym: "familial adenomatous polyposis due to monosomy 5q22.2" EXACT [Orphanet:261584]
synonym: "familial polyposis coli due to monosomy 5q22.2" EXACT [Orphanet:261584]
synonym: "FAP due to monosomy 5q22.2" EXACT [Orphanet:261584]
xref: GARD:20786 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:261584", source="Orphanet:261584/attributed", source="Orphanet:261584/ntbt"}
xref: MEDGEN:1788749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261584 {source="MONDO:equivalentTo"}
xref: UMLS:C5548205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788749"}
is_a: MONDO:0016904 {source="Orphanet:261584"} ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0021055 {source="Orphanet:261584"} ! classic familial adenomatous polyposis
relationship: disease_arises_from_structure CHR:9606-chr5q22.2 {source="https://orcid.org/0000-0002-4142-7153"} ! 5q22.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016861
name: Alagille syndrome due to 20p12 microdeletion
subset: gard_rare {source="GARD:17250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261600"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261600"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alagille syndrome due to del(20)(p12)" EXACT [Orphanet:261600]
synonym: "Alagille syndrome due to monosomy 20p12" EXACT [Orphanet:261600]
synonym: "Alagille-Watson syndrome due to monosomy 20p12" EXACT [Orphanet:261600]
synonym: "Arteriohepatic dysplasia due to monosomy 20p12" EXACT [Orphanet:261600]
synonym: "syndromic bile duct paucity due to monosomy 20p12" EXACT [Orphanet:261600]
xref: GARD:17250 {source="MONDO:GARD"}
xref: ICD10CM:Q44.7 {source="Orphanet:261600", source="Orphanet:261600/attributed", source="Orphanet:261600/ntbt"}
xref: MEDGEN:1826025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261600 {source="MONDO:equivalentTo"}
xref: UMLS:C5679679 {source="MEDGEN:1826025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007318 {source="Orphanet:261600"} ! Alagille syndrome
is_a: MONDO:0016898 {source="Orphanet:261600"} ! partial monosomy of the short arm of chromosome 20
relationship: disease_arises_from_structure CHR:9606-chr20p12 {source="https://orcid.org/0000-0002-4142-7153"} ! 20p12 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016862
name: Alagille syndrome due to a JAG1 point mutation
subset: gard_rare {source="GARD:17251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261619"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261619"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alagille syndrome 1" RELATED [MONDO:Lexical, OMIM:118450]
synonym: "Alagille syndrome due to a JAG1 point mutation" EXACT CLINGEN_LABEL []
synonym: "Alagille syndrome type 1" EXACT [MONDORULE:1, OMIM:118450]
synonym: "Alagille-Watson syndrome" RELATED [OMIM:118450]
synonym: "Alagille-Watson syndrome due to a JAG1 point mutation" EXACT [Orphanet:261619]
synonym: "ALGS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118450]
synonym: "arteriohepatic dysplasia" RELATED [OMIM:118450]
synonym: "arteriohepatic dysplasia due to a JAG1 point mutation" EXACT [Orphanet:261619]
synonym: "cholestasis with peripheral pulmonary stenosis" RELATED [OMIM:118450]
synonym: "hepatic ductular hypoplasia, syndromatic" RELATED [OMIM:118450]
synonym: "syndromic bile duct paucity due to a JAG1 point mutation" EXACT [Orphanet:261619]
xref: GARD:17251 {source="MONDO:GARD"}
xref: ICD10CM:Q44.7 {source="Orphanet:261619", source="Orphanet:261619/attributed", source="Orphanet:261619/ntbt"}
xref: MEDGEN:365434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:118450 {source="Orphanet:261619", source="Orphanet:261619/ntbt", source="MONDO:equivalentTo"}
xref: Orphanet:261619 {source="MONDO:equivalentTo"}
xref: UMLS:C1956125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:365434"}
is_a: MONDO:0007318 {source="OMIM:118450", source="Orphanet:261619"} ! Alagille syndrome
relationship: has_characteristic SO:1000008 ! point_mutation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6188 {source="MONDO:mim2gene_medgen"} ! JAG1

[Term]
id: MONDO:0016863
name: Okihiro syndrome due to 20q13 microdeletion
subset: gard_rare {source="GARD:20787", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261638"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261638"}
subset: rare
synonym: "Duane-radial ray syndrome due to monosomy 20q13" EXACT [Orphanet:261638]
synonym: "Okihiro syndrome due to del(20)(q13)" EXACT [Orphanet:261638]
synonym: "Okihiro syndrome due to monosomy 20q13" EXACT [Orphanet:261638]
xref: GARD:20787 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:261638", source="Orphanet:261638/attributed", source="Orphanet:261638/ntbt"}
xref: MEDGEN:1826026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261638 {source="MONDO:equivalentTo"}
xref: UMLS:C5679682 {source="MEDGEN:1826026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011812 {source="Orphanet:261638"} ! Duane-radial ray syndrome
is_a: MONDO:0016918 {source="Orphanet:261638"} ! partial deletion of the long arm of chromosome 20
relationship: disease_arises_from_structure CHR:9606-chr20q13 {source="https://orcid.org/0000-0002-4142-7153"} ! 20q13 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016864
name: Okihiro syndrome due to a point mutation
subset: gard_rare {source="GARD:20788", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261647"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261647"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Duane-radial ray syndrome due to a point mutation" EXACT [Orphanet:261647]
xref: GARD:20788 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:261647/attributed", source="Orphanet:261647/ntbt", source="Orphanet:261647"}
xref: MEDGEN:1842838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261647 {source="MONDO:equivalentTo"}
xref: UMLS:C5679683 {source="MEDGEN:1842838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011812 {source="Orphanet:261647"} ! Duane-radial ray syndrome
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0016865
name: Kleefstra syndrome due to a point mutation
subset: gard_rare {source="GARD:17253", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:261652"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:261652"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17253 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:261652", source="Orphanet:261652/attributed", source="Orphanet:261652/ntbt"}
xref: MEDGEN:1826146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261652 {source="MONDO:equivalentTo"}
xref: UMLS:C5680724 {source="MEDGEN:1826146", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012455 {source="Orphanet:261652"} ! Kleefstra syndrome
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0016866
name: partial deletion of chromosome 1
subset: disease_grouping
subset: gard_rare {source="GARD:20789", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261766"}
subset: rare
synonym: "partial deletion of chromosome type 1" EXACT [MONDORULE:1, Orphanet:261766]
synonym: "partial monosomy of chromosome 1" EXACT [Orphanet:261766]
xref: GARD:20789 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261766/attributed", source="Orphanet:261766/ntbt", source="Orphanet:261766"}
xref: MEDGEN:1825957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261766 {source="MONDO:equivalentTo"}
xref: UMLS:C5679647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825957"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1 ! chromosome 1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016867
name: partial deletion of chromosome 2
subset: disease_grouping
subset: gard_rare {source="GARD:20790", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261771"}
subset: rare
synonym: "partial deletion of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261771]
synonym: "partial monosomy of chromosome 2" EXACT [Orphanet:261771]
xref: GARD:20790 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261771", source="Orphanet:261771/attributed", source="Orphanet:261771/ntbt"}
xref: MEDGEN:1825960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261771 {source="MONDO:equivalentTo"}
xref: UMLS:C5679650 {source="MEDGEN:1825960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2 ! chromosome 2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016868
name: partial deletion of chromosome 3
subset: disease_grouping
subset: gard_rare {source="GARD:20791", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261776"}
subset: rare
synonym: "partial deletion of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261776]
synonym: "partial monosomy of chromosome 3" EXACT [Orphanet:261776]
xref: GARD:20791 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261776", source="Orphanet:261776/attributed", source="Orphanet:261776/ntbt"}
xref: MEDGEN:1826012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261776 {source="MONDO:equivalentTo"}
xref: UMLS:C5679651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826012"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr3 ! chromosome 3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016869
name: partial deletion of chromosome 4
subset: disease_grouping
subset: gard_rare {source="GARD:20792", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261781"}
subset: rare
synonym: "partial deletion of chromosome type 4" EXACT [MONDORULE:1, Orphanet:261781]
synonym: "partial monosomy of chromosome 4" EXACT [Orphanet:261781]
xref: GARD:20792 {source="MONDO:GARD"}
xref: MEDGEN:1825958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261781 {source="MONDO:equivalentTo"}
xref: UMLS:C5679648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825958"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr4 ! chromosome 4 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016870
name: partial deletion of chromosome 5
subset: disease_grouping
subset: gard_rare {source="GARD:20793", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261786"}
subset: rare
synonym: "partial deletion of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261786]
synonym: "partial monosomy of chromosome 5" EXACT [Orphanet:261786]
xref: GARD:20793 {source="MONDO:GARD"}
xref: MEDGEN:1825959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261786 {source="MONDO:equivalentTo"}
xref: UMLS:C5679649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825959"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr5 ! chromosome 5 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016871
name: partial deletion of chromosome 6
subset: disease_grouping
subset: gard_rare {source="GARD:20794", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261791"}
subset: rare
synonym: "partial deletion of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261791]
synonym: "partial monosomy of chromosome 6" EXACT [Orphanet:261791]
xref: GARD:20794 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261791/attributed", source="Orphanet:261791/ntbt", source="Orphanet:261791"}
xref: MEDGEN:1826013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261791 {source="MONDO:equivalentTo"}
xref: UMLS:C5679654 {source="MEDGEN:1826013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr6 ! chromosome 6 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016872
name: partial deletion of chromosome 7
subset: disease_grouping
subset: gard_rare {source="GARD:20795", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261796"}
subset: rare
synonym: "partial deletion of chromosome type 7" EXACT [MONDORULE:1, Orphanet:261796]
synonym: "partial monosomy of chromosome 7" EXACT [Orphanet:261796]
xref: GARD:20795 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261796", source="Orphanet:261796/attributed", source="Orphanet:261796/ntbt"}
xref: MEDGEN:1825962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261796 {source="MONDO:equivalentTo"}
xref: UMLS:C5679655 {source="MEDGEN:1825962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr7 ! chromosome 7 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016873
name: partial deletion of chromosome 8
subset: disease_grouping
subset: gard_rare {source="GARD:20796", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261801"}
subset: rare
synonym: "partial deletion of chromosome type 8" EXACT [MONDORULE:1, Orphanet:261801]
synonym: "partial monosomy of chromosome 8" EXACT [Orphanet:261801]
xref: GARD:20796 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261801/attributed", source="Orphanet:261801/ntbt", source="Orphanet:261801"}
xref: MEDGEN:1825961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261801 {source="MONDO:equivalentTo"}
xref: UMLS:C5679652 {source="MEDGEN:1825961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016874
name: partial deletion of chromosome 9
subset: disease_grouping
subset: gard_rare {source="GARD:20797", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261806"}
subset: rare
synonym: "partial deletion of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261806]
synonym: "partial monosomy of chromosome 9" EXACT [Orphanet:261806]
xref: GARD:20797 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261806", source="Orphanet:261806/attributed", source="Orphanet:261806/ntbt"}
xref: MEDGEN:1825996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261806 {source="MONDO:equivalentTo"}
xref: UMLS:C5679653 {source="MEDGEN:1825996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016875
name: partial deletion of chromosome 10
subset: disease_grouping
subset: gard_rare {source="GARD:20798", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261811"}
subset: rare
synonym: "partial monosomy of chromosome 10" EXACT [Orphanet:261811]
xref: GARD:20798 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261811"}
xref: MEDGEN:1826016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261811 {source="MONDO:equivalentTo"}
xref: UMLS:C5679658 {source="MEDGEN:1826016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr10 ! chromosome 10 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016876
name: partial deletion of chromosome 11
subset: disease_grouping
subset: gard_rare {source="GARD:20799", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261816"}
subset: rare
synonym: "partial deletion of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261816]
synonym: "partial monosomy of chromosome 11" EXACT [Orphanet:261816]
xref: GARD:20799 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261816/attributed", source="Orphanet:261816/ntbt", source="Orphanet:261816"}
xref: MEDGEN:1826017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261816 {source="MONDO:equivalentTo"}
xref: UMLS:C5679659 {source="MEDGEN:1826017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr11 ! chromosome 11 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016877
name: partial deletion of the long arm of chromosome 12
subset: disease_grouping
subset: gard_rare {source="GARD:20800", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261821"}
subset: rare
synonym: "partial deletion of chromosome 12q" EXACT [Orphanet:261821]
synonym: "partial deletion of the long arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:261821]
synonym: "partial monosomy of chromosome 12q" EXACT [Orphanet:261821]
synonym: "partial monosomy of the long arm of chromosome 12" EXACT [Orphanet:261821]
xref: GARD:20800 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261821/attributed", source="Orphanet:261821/ntbt", source="Orphanet:261821"}
xref: icd11.foundation:1206066048 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:261821"}
xref: MEDGEN:1826014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261821 {source="MONDO:equivalentTo"}
xref: UMLS:C5679656 {source="MEDGEN:1826014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017277 {source="Orphanet:261821"} ! partial deletion of chromosome 12
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr12q ! 12q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016878
name: partial deletion of chromosome 16
subset: disease_grouping
subset: gard_rare {source="GARD:20801", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261826"}
subset: rare
synonym: "partial deletion of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261826]
synonym: "partial monosomy of chromosome 16" EXACT [Orphanet:261826]
xref: GARD:20801 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261826", source="Orphanet:261826/attributed", source="Orphanet:261826/ntbt"}
xref: MEDGEN:1826015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261826 {source="MONDO:equivalentTo"}
xref: UMLS:C5679657 {source="MEDGEN:1826015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016879
name: partial deletion of chromosome 17
subset: disease_grouping
subset: gard_rare {source="GARD:20802", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261831"}
subset: rare
synonym: "partial deletion of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261831]
synonym: "partial monosomy of chromosome 17" EXACT [Orphanet:261831]
xref: GARD:20802 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261831", source="Orphanet:261831/attributed", source="Orphanet:261831/ntbt"}
xref: MEDGEN:1825963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261831 {source="MONDO:equivalentTo"}
xref: UMLS:C5679661 {source="MEDGEN:1825963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr17 ! chromosome 17 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016880
name: partial deletion of chromosome 18
subset: disease_grouping
subset: gard_rare {source="GARD:20803", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261836"}
subset: rare
synonym: "partial deletion of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261836]
synonym: "partial monosomy of chromosome 18" EXACT [Orphanet:261836]
xref: GARD:20803 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261836", source="Orphanet:261836/attributed", source="Orphanet:261836/ntbt"}
xref: MEDGEN:1826018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261836 {source="MONDO:equivalentTo"}
xref: UMLS:C5679660 {source="MEDGEN:1826018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016881
name: partial deletion of chromosome 19
subset: disease_grouping
subset: gard_rare {source="GARD:20804", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261841"}
subset: rare
synonym: "partial deletion of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261841]
synonym: "partial monosomy of chromosome 19" EXACT [Orphanet:261841]
xref: GARD:20804 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261841/attributed", source="Orphanet:261841/ntbt", source="Orphanet:261841"}
xref: MEDGEN:1825965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261841 {source="MONDO:equivalentTo"}
xref: UMLS:C5679663 {source="MEDGEN:1825965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr19 ! chromosome 19 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016882
name: partial deletion of chromosome 20
subset: disease_grouping
subset: gard_rare {source="GARD:20805", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261846"}
subset: rare
synonym: "partial deletion of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261846]
synonym: "partial monosomy of chromosome 20" EXACT [Orphanet:261846]
xref: GARD:20805 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261846/attributed", source="Orphanet:261846/ntbt", source="Orphanet:261846"}
xref: MEDGEN:1825964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261846 {source="MONDO:equivalentTo"}
xref: UMLS:C5679662 {source="MONDO:equivalentTo", source="MEDGEN:1825964", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr20 ! chromosome 20 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016883
name: partial deletion of the short arm of chromosome 1
def: "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003730]
subset: disease_grouping
subset: gard_rare {source="GARD:3730", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261857"}
subset: rare
synonym: "1p deletion" RELATED [GARD:0003730]
synonym: "1p monosomy" RELATED [GARD:0003730]
synonym: "chromosome 1p deletion" RELATED [GARD:0003730]
synonym: "del(1p)" RELATED [NCIT:C36501]
synonym: "deletion 1p" RELATED [GARD:0003730]
synonym: "loss of chromosome 1p" RELATED [NCIT:C36501]
synonym: "monosomy 1p" RELATED [GARD:0003730]
synonym: "partial deletion of chromosome 1p" EXACT [Orphanet:261857]
synonym: "partial deletion of the short arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:261857]
synonym: "partial monosomy 1p" RELATED [GARD:0003730]
synonym: "partial monosomy of chromosome 1p" EXACT [Orphanet:261857]
synonym: "partial monosomy of the short arm of chromosome 1" EXACT [Orphanet:261857]
xref: GARD:3730 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261857/attributed", source="Orphanet:261857/ntbt", source="Orphanet:261857"}
xref: icd11.foundation:1004815242 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:261857"}
xref: MEDGEN:208633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535591 {source="MONDO:equivalentTo"}
xref: NCIT:C36501 {source="MONDO:relatedTo"}
xref: Orphanet:261857 {source="MONDO:equivalentTo"}
xref: UMLS:C0795796 {source="MEDGEN:208633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016866 {source="Orphanet:261857"} ! partial deletion of chromosome 1
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1p ! 1p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016884
name: partial deletion of the short arm of chromosome 2
subset: disease_grouping
subset: gard_rare {source="GARD:20807", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261866"}
subset: rare
synonym: "partial deletion of chromosome 2p" EXACT [Orphanet:261866]
synonym: "partial deletion of the short arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261866]
synonym: "partial monosomy of chromosome 2p" EXACT [Orphanet:261866]
synonym: "partial monosomy of the short arm of chromosome 2" EXACT [Orphanet:261866]
xref: GARD:20807 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261866/attributed", source="Orphanet:261866/ntbt", source="Orphanet:261866"}
xref: icd11.foundation:1610083208 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:261866"}
xref: MEDGEN:1826019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261866 {source="MONDO:equivalentTo"}
xref: UMLS:C5679664 {source="MONDO:equivalentTo", source="MEDGEN:1826019", source="MONDO:MEDGEN"}
is_a: MONDO:0016867 {source="Orphanet:261866"} ! partial deletion of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2p ! 2p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016885
name: partial deletion of the short arm of chromosome 3
subset: disease_grouping
subset: gard_rare {source="GARD:37", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261875"}
subset: rare
synonym: "partial deletion of chromosome 3p" EXACT [Orphanet:261875]
synonym: "partial deletion of the short arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261875]
synonym: "partial monosomy of chromosome 3p" EXACT [Orphanet:261875]
synonym: "partial monosomy of the short arm of chromosome 3" EXACT [Orphanet:261875]
xref: GARD:37 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261875", source="Orphanet:261875/attributed", source="Orphanet:261875/ntbt"}
xref: icd11.foundation:551346575 {source="MONDO:equivalentTo", source="Orphanet:261875", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1826020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261875 {source="MONDO:equivalentTo"}
xref: UMLS:C5679666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826020"}
is_a: MONDO:0016868 {source="Orphanet:261875"} ! partial deletion of chromosome 3
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr3p ! 3p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016886
name: obsolete partial deletion of the short arm of chromosome 4
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022762

[Term]
id: MONDO:0016887
name: partial deletion of the short arm of chromosome 5
subset: disease_grouping
subset: gard_rare {source="GARD:20809", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261893"}
subset: rare
synonym: "partial deletion of chromosome 5p" EXACT [Orphanet:261893]
synonym: "partial deletion of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261893]
synonym: "partial monosomy of chromosome 5p" EXACT [Orphanet:261893]
synonym: "partial monosomy of the short arm of chromosome 5" EXACT [Orphanet:261893]
xref: GARD:20809 {source="MONDO:GARD"}
xref: ICD10CM:Q93.4 {source="Orphanet:261893", source="Orphanet:261893/specific", source="Orphanet:261893/e"}
xref: icd11.foundation:1109271336 {source="MONDO:equivalentTo", source="Orphanet:261893", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:261893 {source="MONDO:equivalentTo"}
is_a: MONDO:0016870 {source="Orphanet:261893"} ! partial deletion of chromosome 5
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr5p ! 5p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016888
name: partial deletion of the short arm of chromosome 6
subset: disease_grouping
subset: gard_rare {source="GARD:20810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:261902"}
subset: rare
synonym: "partial deletion of chromosome 6p" EXACT [Orphanet:261902]
synonym: "partial deletion of the short arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261902]
synonym: "partial monosomy of chromosome 6p" EXACT [Orphanet:261902]
synonym: "partial monosomy of the short arm of chromosome 6" EXACT [Orphanet:261902]
xref: GARD:20810 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261902", source="Orphanet:261902/attributed", source="Orphanet:261902/ntbt"}
xref: icd11.foundation:241036989 {source="Orphanet:261902", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1825966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261902 {source="MONDO:equivalentTo"}
xref: UMLS:C5679667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825966"}
is_a: MONDO:0016871 {source="Orphanet:261902"} ! partial deletion of chromosome 6
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr6p ! 6p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016889
name: partial deletion of the short arm of chromosome 7
def: "Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001346]
subset: disease_grouping
subset: gard_rare {source="GARD:1346", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261911"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "7p deletion" RELATED [GARD:0001346]
synonym: "7p monosomy" RELATED [GARD:0001346]
synonym: "chromosome 7p deletion" RELATED [GARD:0001346]
synonym: "deletion 7p" RELATED [GARD:0001346]
synonym: "monosomy 7p" RELATED [GARD:0001346]
synonym: "partial deletion of chromosome 7p" EXACT [Orphanet:261911]
synonym: "partial deletion of the short arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:261911]
synonym: "partial monosomy 7p" RELATED [GARD:0001346]
synonym: "partial monosomy of chromosome 7p" EXACT [Orphanet:261911]
synonym: "partial monosomy of the short arm of chromosome 7" EXACT [Orphanet:261911]
xref: GARD:1346 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261911/attributed", source="Orphanet:261911/ntbt", source="Orphanet:261911"}
xref: icd11.foundation:1523142467 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:261911"}
xref: MEDGEN:1826021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261911 {source="MONDO:equivalentTo"}
xref: UMLS:C5679668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826021"}
is_a: MONDO:0016872 {source="Orphanet:261911"} ! partial deletion of chromosome 7
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr7p ! 7p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016890
name: partial deletion of the short arm of chromosome 8
def: "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003768]
subset: disease_grouping
subset: gard_rare {source="GARD:3768", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261920"}
subset: rare
synonym: "8p deletion" RELATED [GARD:0003768]
synonym: "8p monosomy" RELATED [GARD:0003768]
synonym: "chromosome 8p deletion" RELATED [GARD:0003768]
synonym: "deletion 8p" RELATED [GARD:0003768]
synonym: "monosomy 8p" RELATED [GARD:0003768]
synonym: "partial deletion of chromosome 8p" EXACT [Orphanet:261920]
synonym: "partial deletion of the short arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:261920]
synonym: "partial monosomy 8p" RELATED [GARD:0003768]
synonym: "partial monosomy of chromosome 8p" EXACT [Orphanet:261920]
synonym: "partial monosomy of the short arm of chromosome 8" EXACT [Orphanet:261920]
xref: GARD:3768 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261920/attributed", source="Orphanet:261920/ntbt", source="Orphanet:261920"}
xref: icd11.foundation:635585868 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:261920"}
xref: MEDGEN:444105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537826 {source="MONDO:equivalentTo"}
xref: Orphanet:261920 {source="MONDO:equivalentTo"}
xref: UMLS:C2931635 {source="MEDGEN:444105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016873 {source="Orphanet:261920"} ! partial deletion of chromosome 8
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8p ! 8p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016891
name: obsolete partial deletion of the short arm of chromosome 9
subset: ordo_group_of_disorders {source="Orphanet:261929"}
xref: GARD:20813 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:924171107 {source="MONDO:obsoleteEquivalent", source="Orphanet:261929", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:261929 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008013

[Term]
id: MONDO:0016892
name: partial deletion of the short arm of chromosome 10
subset: disease_grouping
subset: gard_rare {source="GARD:20814", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261938"}
subset: rare
synonym: "partial deletion of chromosome 10p" EXACT [Orphanet:261938]
synonym: "partial deletion of the short arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:261938]
synonym: "partial monosomy of chromosome 10p" EXACT [Orphanet:261938]
synonym: "partial monosomy of the short arm of chromosome 10" EXACT [Orphanet:261938]
xref: GARD:20814 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261938", source="Orphanet:261938/attributed", source="Orphanet:261938/ntbt"}
xref: icd11.foundation:350543001 {source="Orphanet:261938", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:162776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261938 {source="MONDO:equivalentTo"}
xref: UMLS:C0795836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162776"}
is_a: MONDO:0016875 {source="Orphanet:261938"} ! partial deletion of chromosome 10
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr10p ! 10p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016893
name: partial deletion of the short arm of chromosome 11
subset: disease_grouping
subset: gard_rare {source="GARD:20815", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261947"}
subset: rare
synonym: "partial deletion of chromosome 11p" EXACT [Orphanet:261947]
synonym: "partial deletion of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261947]
synonym: "partial monosomy of chromosome 11p" EXACT [Orphanet:261947]
synonym: "partial monosomy of the short arm of chromosome 11" EXACT [Orphanet:261947]
xref: GARD:20815 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261947", source="Orphanet:261947/attributed", source="Orphanet:261947/ntbt"}
xref: icd11.foundation:127054483 {source="Orphanet:261947", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:419498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261947 {source="MONDO:equivalentTo"}
xref: UMLS:C2931801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419498"}
is_a: MONDO:0016876 {source="Orphanet:261947"} ! partial deletion of chromosome 11
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr11p ! 11p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016894
name: partial deletion of the short arm of chromosome 16
subset: disease_grouping
subset: gard_rare {source="GARD:20816", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261956"}
subset: rare
synonym: "partial deletion of chromosome 16p" EXACT [Orphanet:261956]
synonym: "partial deletion of the short arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261956]
synonym: "partial monosomy of chromosome 16p" EXACT [Orphanet:261956]
synonym: "partial monosomy of the short arm of chromosome 16" EXACT [Orphanet:261956]
xref: GARD:20816 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261956/attributed", source="Orphanet:261956/ntbt", source="Orphanet:261956"}
xref: icd11.foundation:934406879 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:261956"}
xref: MEDGEN:1825967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261956 {source="MONDO:equivalentTo"}
xref: UMLS:C5679670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825967"}
is_a: MONDO:0016878 {source="Orphanet:261956"} ! partial deletion of chromosome 16
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16p ! 16p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016895
name: obsolete partial monosomy of the short arm of chromosome 17
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022754

[Term]
id: MONDO:0016896
name: obsolete partial deletion of the short arm of chromosome 18
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007800

[Term]
id: MONDO:0016897
name: partial deletion of the short arm of chromosome 19
subset: disease_grouping
subset: gard_rare {source="GARD:20819", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261983"}
subset: rare
synonym: "partial deletion of chromosome 19p" EXACT [Orphanet:261983]
synonym: "partial deletion of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261983]
synonym: "partial monosomy of chromosome 19p" EXACT [Orphanet:261983]
synonym: "partial monosomy of the short arm of chromosome 19" EXACT [Orphanet:261983]
xref: GARD:20819 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261983", source="Orphanet:261983/attributed", source="Orphanet:261983/ntbt"}
xref: icd11.foundation:1325170119 {source="MONDO:equivalentTo", source="Orphanet:261983", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1826022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:261983 {source="MONDO:equivalentTo"}
xref: UMLS:C5679672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826022"}
is_a: MONDO:0016881 {source="Orphanet:261983"} ! partial deletion of chromosome 19
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr19p ! 19p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016898
name: partial monosomy of the short arm of chromosome 20
subset: disease_grouping
subset: gard_rare {source="GARD:20820", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261992"}
subset: rare
synonym: "20p deletion" RELATED [GARD:0003739]
synonym: "20p monosomy" RELATED [GARD:0003739]
synonym: "chromosome 20p deletion" RELATED [GARD:0003739]
synonym: "deletion 20p" RELATED [GARD:0003739, MESH:C535370]
synonym: "monosomy 20p" RELATED [GARD:0003739, MESH:C535370]
synonym: "partial deletion of chromosome 20p" EXACT [Orphanet:261992]
synonym: "partial deletion of the short arm of chromosome 20" EXACT [Orphanet:261992]
synonym: "partial monosomy 20p" RELATED [GARD:0003739]
synonym: "partial monosomy of chromosome 20p" EXACT [Orphanet:261992]
synonym: "partial monosomy of the short arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261992]
synonym: "Pure partial 20p deletion" EXACT [Orphanet:261992]
xref: GARD:20820 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261992", source="Orphanet:261992/attributed", source="Orphanet:261992/ntbt"}
xref: icd11.foundation:274545745 {source="MONDO:equivalentTo", source="Orphanet:261992", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1826023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535370 {source="MONDO:equivalentTo"}
xref: Orphanet:1611 {source="GARD:0003739"}
xref: Orphanet:261992 {source="MONDO:equivalentTo"}
xref: UMLS:C5679673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826023"}
is_a: MONDO:0016882 {source="Orphanet:261992"} ! partial deletion of chromosome 20
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr20p ! 20p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016899
name: obsolete Duchenne and Becker muscular dystrophy
def: "OBSOLETE. Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:262]
subset: ordo_group_of_disorders {source="Orphanet:262"}
subset: otar {source="MONDO:OTAR"}
synonym: "severe dystrophinopathy, Duchenne and Becker type" EXACT [Orphanet:262]
xref: GARD:18686 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.0 {source="Orphanet:262/inclusion", source="Orphanet:262/ntbt", source="Orphanet:262"}
xref: Orphanet:262 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016900
name: obsolete partial deletion of the long arm of chromosome 1
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022756

[Term]
id: MONDO:0016901
name: partial deletion of the long arm of chromosome 2
def: "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003744]
subset: disease_grouping
subset: gard_rare {source="GARD:3744", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262010"}
subset: rare
synonym: "2q deletion" RELATED [GARD:0003744]
synonym: "2q monosomy" RELATED [GARD:0003744]
synonym: "chromosome 2q deletion" RELATED [GARD:0003744]
synonym: "deletion 2q" RELATED [GARD:0003744]
synonym: "monosomy 2q" RELATED [GARD:0003744]
synonym: "partial deletion of chromosome 2q" EXACT [Orphanet:262010]
synonym: "partial deletion of the long arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262010]
synonym: "partial monosomy 2q" RELATED [GARD:0003744]
synonym: "partial monosomy of chromosome 2q" EXACT [Orphanet:262010]
synonym: "partial monosomy of the long arm of chromosome 2" EXACT [Orphanet:262010]
xref: GARD:3744 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262010", source="Orphanet:262010/attributed", source="Orphanet:262010/ntbt"}
xref: icd11.foundation:754787315 {source="Orphanet:262010", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:162770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538315 {source="MONDO:equivalentTo"}
xref: Orphanet:262010 {source="MONDO:equivalentTo"}
xref: UMLS:C0795804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162770"}
is_a: MONDO:0016867 {source="Orphanet:262010"} ! partial deletion of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2q ! 2q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016902
name: partial deletion of the long arm of chromosome 3
subset: disease_grouping
subset: gard_rare {source="GARD:20823", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262019"}
subset: rare
synonym: "partial deletion of chromosome 3q" EXACT [Orphanet:262019]
synonym: "partial deletion of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262019]
synonym: "partial monosomy of chromosome 3q" EXACT [Orphanet:262019]
synonym: "partial monosomy of the long arm of chromosome 3" EXACT [Orphanet:262019]
xref: GARD:20823 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262019/attributed", source="Orphanet:262019/ntbt", source="Orphanet:262019"}
xref: icd11.foundation:1054533453 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:262019"}
xref: MEDGEN:1825968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262019 {source="MONDO:equivalentTo"}
xref: UMLS:C5679675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825968"}
is_a: MONDO:0016868 {source="Orphanet:262019"} ! partial deletion of chromosome 3
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr3q ! 3q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016903
name: partial deletion of the long arm of chromosome 4
def: "Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001340]
subset: disease_grouping
subset: gard_rare {source="GARD:1340", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262029"}
subset: rare
synonym: "4q deletion" RELATED [GARD:0001340]
synonym: "4q monosomy" RELATED [GARD:0001340]
synonym: "chromosome 4q deletion" RELATED [GARD:0001340]
synonym: "deletion 4q" RELATED [GARD:0001340]
synonym: "monosomy 4q" RELATED [GARD:0001340]
synonym: "partial deletion of chromosome 4q" EXACT [Orphanet:262029]
synonym: "partial deletion of the long arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262029]
synonym: "partial monosomy 4q" RELATED [GARD:0001340]
synonym: "partial monosomy of chromosome 4q" EXACT [Orphanet:262029]
synonym: "partial monosomy of the long arm of chromosome 4" EXACT [Orphanet:262029]
xref: GARD:1340 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262029", source="Orphanet:262029/attributed", source="Orphanet:262029/ntbt"}
xref: icd11.foundation:855319857 {source="MONDO:equivalentTo", source="Orphanet:262029", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:468967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537639 {source="MONDO:equivalentTo"}
xref: Orphanet:262029 {source="MONDO:equivalentTo"}
xref: UMLS:C0265404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:468967"}
is_a: MONDO:0016869 {source="Orphanet:262029"} ! partial deletion of chromosome 4
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr4q ! 4q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016904
name: partial deletion of the long arm of chromosome 5
subset: disease_grouping
subset: gard_rare {source="GARD:20825", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262038"}
subset: rare
synonym: "partial deletion of chromosome 5q" EXACT [Orphanet:262038]
synonym: "partial deletion of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262038]
synonym: "partial monosomy of chromosome 5q" EXACT [Orphanet:262038]
synonym: "partial monosomy of the long arm of chromosome 5" EXACT [Orphanet:262038]
xref: GARD:20825 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262038", source="Orphanet:262038/attributed", source="Orphanet:262038/ntbt"}
xref: icd11.foundation:285885131 {source="MONDO:equivalentTo", source="Orphanet:262038", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:262038 {source="MONDO:equivalentTo"}
is_a: MONDO:0016870 {source="Orphanet:262038"} ! partial deletion of chromosome 5
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr5q ! 5q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016905
name: partial deletion of the long arm of chromosome 6
def: "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003760]
subset: disease_grouping
subset: gard_rare {source="GARD:3760", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262047"}
subset: rare
synonym: "6q deletion" RELATED [GARD:0003760]
synonym: "6q monosomy" RELATED [GARD:0003760]
synonym: "chromosome 6q deletion" RELATED [GARD:0003760]
synonym: "deletion 6q" RELATED [GARD:0003760]
synonym: "monosomy 6q" RELATED [GARD:0003760]
synonym: "partial deletion of chromosome 6q" EXACT [Orphanet:262047]
synonym: "partial deletion of the long arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262047]
synonym: "partial monosomy 6q" RELATED [GARD:0003760]
synonym: "partial monosomy of chromosome 6q" EXACT [Orphanet:262047]
synonym: "partial monosomy of the long arm of chromosome 6" EXACT [Orphanet:262047]
xref: GARD:3760 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262047", source="Orphanet:262047/attributed", source="Orphanet:262047/ntbt"}
xref: icd11.foundation:41692353 {source="MONDO:equivalentTo", source="Orphanet:262047", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:162772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537807 {source="MONDO:equivalentTo"}
xref: Orphanet:262047 {source="MONDO:equivalentTo"}
xref: UMLS:C0795816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162772"}
is_a: MONDO:0016871 {source="Orphanet:262047"} ! partial deletion of chromosome 6
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr6q ! 6q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016906
name: partial deletion of the long arm of chromosome 7
def: "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003765]
subset: disease_grouping
subset: gard_rare {source="GARD:3765", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262056"}
subset: rare
synonym: "7q deletion" RELATED [GARD:0003765]
synonym: "7q monosomy" RELATED [GARD:0003765]
synonym: "del(7q)" RELATED [NCIT:C36408]
synonym: "deletion 7q" RELATED [GARD:0003765]
synonym: "loss of chromosome 7q" RELATED [NCIT:C36408]
synonym: "monosomy 7q" RELATED [GARD:0003765]
synonym: "partial deletion of chromosome 7q" EXACT [Orphanet:262056]
synonym: "partial deletion of the long arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262056]
synonym: "partial monosomy 7q" RELATED [GARD:0003765]
synonym: "partial monosomy of chromosome 7q" EXACT [Orphanet:262056]
synonym: "partial monosomy of the long arm of chromosome 7" EXACT [Orphanet:262056]
xref: GARD:3765 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262056/attributed", source="Orphanet:262056/ntbt", source="Orphanet:262056"}
xref: icd11.foundation:1458081087 {source="Orphanet:262056", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1825969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36408 {source="MONDO:relatedTo"}
xref: Orphanet:262056 {source="MONDO:equivalentTo"}
xref: UMLS:C5679676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825969"}
is_a: MONDO:0016872 {source="Orphanet:262056"} ! partial deletion of chromosome 7
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr7q ! 7q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016907
name: partial deletion of the long arm of chromosome 8
def: "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0003770]
subset: disease_grouping
subset: gard_rare {source="GARD:3770", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262065"}
subset: rare
synonym: "8q deletion" RELATED [GARD:0003770]
synonym: "8q monosomy" RELATED [GARD:0003770]
synonym: "chromosome 8q deletion" RELATED [GARD:0003770]
synonym: "deletion 8q" RELATED [GARD:0003770]
synonym: "monosomy 8q" RELATED [GARD:0003770]
synonym: "partial deletion of chromosome 8q" EXACT [Orphanet:262065]
synonym: "partial deletion of the long arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262065]
synonym: "partial monosomy 8q" RELATED [GARD:0003770]
synonym: "partial monosomy of chromosome 8q" EXACT [Orphanet:262065]
synonym: "partial monosomy of the long arm of chromosome 8" EXACT [Orphanet:262065]
xref: GARD:3770 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262065", source="Orphanet:262065/attributed", source="Orphanet:262065/ntbt"}
xref: icd11.foundation:653068448 {source="Orphanet:262065", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:208638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537828 {source="MONDO:equivalentTo"}
xref: Orphanet:262065 {source="MONDO:equivalentTo"}
xref: UMLS:C0795828 {source="MONDO:equivalentTo", source="MEDGEN:208638", source="MONDO:MEDGEN"}
is_a: MONDO:0016873 {source="Orphanet:262065"} ! partial deletion of chromosome 8
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr8q ! 8q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016908
name: partial monosomy of the long arm of chromosome 9
subset: disease_grouping
subset: gard_rare {source="GARD:20829", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262074"}
subset: rare
synonym: "partial deletion of chromosome 9q" EXACT [Orphanet:262074]
synonym: "partial deletion of the long arm of chromosome 9" EXACT [Orphanet:262074]
synonym: "partial monosomy of chromosome 9q" EXACT [Orphanet:262074]
synonym: "partial monosomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262074]
xref: GARD:20829 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262074", source="Orphanet:262074/attributed", source="Orphanet:262074/ntbt"}
xref: icd11.foundation:1051626600 {source="Orphanet:262074", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1826024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262074 {source="MONDO:equivalentTo"}
xref: UMLS:C5679677 {source="MEDGEN:1826024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016874 {source="Orphanet:262074"} ! partial deletion of chromosome 9
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr9q ! 9q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016909
name: partial monosomy of the long arm of chromosome 10
subset: disease_grouping
subset: gard_rare {source="GARD:20830", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262083"}
subset: rare
synonym: "partial deletion of chromosome 10q" EXACT [Orphanet:262083]
synonym: "partial deletion of the long arm of chromosome 10" EXACT [Orphanet:262083]
synonym: "partial monosomy of chromosome 10q" EXACT [Orphanet:262083]
synonym: "partial monosomy of the long arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:262083]
xref: GARD:20830 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262083/attributed", source="Orphanet:262083/ntbt", source="Orphanet:262083"}
xref: icd11.foundation:376045936 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:262083"}
xref: MEDGEN:162778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262083 {source="MONDO:equivalentTo"}
xref: UMLS:C0795839 {source="MEDGEN:162778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016875 {source="Orphanet:262083"} ! partial deletion of chromosome 10
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr10q ! 10q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016910
name: partial deletion of the long arm of chromosome 11
def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11." [NCIT:C37312]
subset: disease_grouping
subset: gard_rare {source="GARD:20831", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262092"}
subset: rare
synonym: "11q deletion" RELATED [GARD:0001735]
synonym: "11q monosomy" RELATED [GARD:0001735]
synonym: "chromosome 11q deletion" RELATED [GARD:0001735]
synonym: "chromosome 11q partial deletion" RELATED [GTR:AN0100478]
synonym: "del(11q)" RELATED [NCIT:C37312]
synonym: "deletion 11q" RELATED [GARD:0001735]
synonym: "Deletion 11q partial" RELATED [GTR:AN0100479]
synonym: "loss of chromosome 11q" RELATED [NCIT:C37312]
synonym: "monosomy 11q" RELATED [GARD:0001735]
synonym: "monosomy 11q partial" RELATED [GTR:AN0100480]
synonym: "partial deletion of chromosome 11q" EXACT [Orphanet:262092]
synonym: "partial deletion of the long arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262092]
synonym: "partial monosomy 11q" RELATED [GARD:0001735]
synonym: "partial monosomy of chromosome 11q" EXACT [Orphanet:262092]
synonym: "partial monosomy of the long arm of chromosome 11" EXACT [Orphanet:262092]
xref: GARD:20831 {source="MONDO:GARD"}
xref: GTR:AN0100478
xref: GTR:AN0100479
xref: GTR:AN0100480
xref: ICD10CM:Q93.5 {source="Orphanet:262092/attributed", source="Orphanet:262092/ntbt", source="Orphanet:262092"}
xref: icd11.foundation:237602200 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:262092"}
xref: MEDGEN:419905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538296 {source="MONDO:equivalentTo"}
xref: NCIT:C37312 {source="MONDO:relatedTo"}
xref: Orphanet:262092 {source="MONDO:equivalentTo"}
xref: UMLS:C2931804 {source="MEDGEN:419905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016876 {source="Orphanet:262092"} ! partial deletion of chromosome 11
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr11q ! 11q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016911
name: partial deletion of the long arm of chromosome 13
def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13." [NCIT:C36497]
subset: disease_grouping
subset: gard_rare {source="GARD:20832", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262101"}
subset: rare
synonym: "13q deletion" RELATED [GARD:0001738]
synonym: "13q monosomy" RELATED [GARD:0001738]
synonym: "chromosome 13q deletion" RELATED [GARD:0001738]
synonym: "del(13q)" RELATED [NCIT:C36497]
synonym: "deletion 13q" RELATED [GARD:0001738]
synonym: "loss of chromosome 13q" RELATED [NCIT:C36497]
synonym: "monosomy 13q" RELATED [GARD:0001738]
synonym: "partial deletion of chromosome 13q" EXACT [Orphanet:262101]
synonym: "partial deletion of the long arm of chromosome type 13" EXACT [MONDORULE:2, Orphanet:262101]
synonym: "partial monosomy of chromosome 13q" EXACT [Orphanet:262101]
synonym: "partial monosomy of the long arm of chromosome 13" EXACT [Orphanet:262101]
xref: GARD:20832 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262101", source="Orphanet:262101/attributed", source="Orphanet:262101/ntbt"}
xref: MEDGEN:120541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535449 {source="MONDO:equivalentTo"}
xref: NCIT:C36497 {source="MONDO:relatedTo"}
xref: Orphanet:262101 {source="MONDO:equivalentTo"}
xref: UMLS:C0265451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120541"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr13q ! 13q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016912
name: partial deletion of the long arm of chromosome 14
def: "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14." [GARD:0003722]
subset: disease_grouping
subset: gard_rare {source="GARD:3722", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262110"}
subset: rare
synonym: "14q deletion" RELATED [GARD:0003722]
synonym: "14q monosomy" RELATED [GARD:0003722]
synonym: "chromosome 14q deletion" RELATED [GARD:0003722]
synonym: "deletion 14q" RELATED [GARD:0003722]
synonym: "monosomy 14q" RELATED [GARD:0003722]
synonym: "partial deletion of chromosome 14q" EXACT [Orphanet:262110]
synonym: "partial deletion of the long arm of chromosome type 14" EXACT [MONDORULE:2, Orphanet:262110]
synonym: "partial monosomy 14q" RELATED [GARD:0003722]
synonym: "partial monosomy of chromosome 14q" EXACT [Orphanet:262110]
synonym: "partial monosomy of the long arm of chromosome 14" EXACT [Orphanet:262110]
xref: GARD:3722 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262110/attributed", source="Orphanet:262110/ntbt", source="Orphanet:262110"}
xref: MEDGEN:444119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262110 {source="MONDO:equivalentTo"}
xref: UMLS:C2931697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444119"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr14q ! 14q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016913
name: partial deletion of the long arm of chromosome 15
subset: disease_grouping
subset: gard_rare {source="GARD:20834", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262119"}
subset: rare
synonym: "15q deletion" RELATED [GARD:0001746]
synonym: "15q monosomy" RELATED [GARD:0001746]
synonym: "chromosome 15q deletion" RELATED [GARD:0001746]
synonym: "deletion 15q" RELATED [GARD:0001746]
synonym: "monosomy 15q" RELATED [GARD:0001746]
synonym: "partial deletion of chromosome 15q" EXACT [Orphanet:262119]
synonym: "partial deletion of the long arm of chromosome type 15" EXACT [MONDORULE:2, Orphanet:262119]
synonym: "partial monosomy 15q" RELATED [GARD:0001746]
synonym: "partial monosomy of chromosome 15q" EXACT [Orphanet:262119]
synonym: "partial monosomy of the long arm of chromosome 15" EXACT [Orphanet:262119]
xref: GARD:20834 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262119/attributed", source="Orphanet:262119/ntbt", source="Orphanet:262119"}
xref: MEDGEN:444123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538038 {source="MONDO:equivalentTo"}
xref: Orphanet:262119 {source="MONDO:equivalentTo"}
xref: UMLS:C2931708 {source="MEDGEN:444123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr15q ! 15q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016914
name: partial deletion of the long arm of chromosome 16
subset: disease_grouping
subset: gard_rare {source="GARD:20835", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262128"}
subset: rare
synonym: "partial deletion of chromosome 16q" EXACT [Orphanet:262128]
synonym: "partial deletion of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262128]
synonym: "partial monosomy of chromosome 16q" EXACT [Orphanet:262128]
synonym: "partial monosomy of the long arm of chromosome 16" EXACT [Orphanet:262128]
xref: GARD:20835 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262128", source="Orphanet:262128/attributed", source="Orphanet:262128/ntbt"}
xref: icd11.foundation:324314539 {source="MONDO:equivalentTo", source="Orphanet:262128", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1790033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262128 {source="MONDO:equivalentTo"}
xref: UMLS:C4736186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790033"}
is_a: MONDO:0016878 {source="Orphanet:262128"} ! partial deletion of chromosome 16
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16q ! 16q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016915
name: partial deletion of the long arm of chromosome 17
subset: disease_grouping
subset: gard_rare {source="GARD:20836", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262137"}
subset: rare
synonym: "partial deletion of chromosome 17q" EXACT [Orphanet:262137]
synonym: "partial deletion of the long arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262137]
synonym: "partial monosomy of chromosome 17q" EXACT [Orphanet:262137]
synonym: "partial monosomy of the long arm of chromosome 17" EXACT [Orphanet:262137]
xref: GARD:20836 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262137", source="Orphanet:262137/attributed", source="Orphanet:262137/ntbt"}
xref: icd11.foundation:186065235 {source="MONDO:equivalentTo", source="Orphanet:262137", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262137 {source="MONDO:equivalentTo"}
xref: UMLS:C5679727 {source="MEDGEN:1826046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016879 {source="Orphanet:262137"} ! partial deletion of chromosome 17
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr17q ! 17q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016916
name: obsolete partial deletion of the long arm of chromosome 18
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011147

[Term]
id: MONDO:0016917
name: partial deletion of the long arm of chromosome 19
subset: disease_grouping
subset: gard_rare {source="GARD:20838", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262155"}
subset: rare
synonym: "partial deletion of chromosome 19q" EXACT [Orphanet:262155]
synonym: "partial deletion of the long arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262155]
synonym: "partial monosomy of chromosome 19q" EXACT [Orphanet:262155]
synonym: "partial monosomy of the long arm of chromosome 19" EXACT [Orphanet:262155]
xref: GARD:20838 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262155/attributed", source="Orphanet:262155/ntbt", source="Orphanet:262155"}
xref: icd11.foundation:434506582 {source="Orphanet:262155", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262155 {source="MONDO:equivalentTo"}
xref: UMLS:C5679729 {source="MEDGEN:1826047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016881 {source="Orphanet:262155"} ! partial deletion of chromosome 19
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr19q ! 19q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016918
name: partial deletion of the long arm of chromosome 20
subset: disease_grouping
subset: gard_rare {source="GARD:20839", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262164"}
subset: rare
synonym: "partial deletion of chromosome 20q" EXACT [Orphanet:262164]
synonym: "partial deletion of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262164]
synonym: "partial monosomy of chromosome 20q" EXACT [Orphanet:262164]
synonym: "partial monosomy of the long arm of chromosome 20" EXACT [Orphanet:262164]
xref: GARD:20839 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262164", source="Orphanet:262164/attributed", source="Orphanet:262164/ntbt"}
xref: icd11.foundation:27627438 {source="Orphanet:262164", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262164 {source="MONDO:equivalentTo"}
xref: UMLS:C5679730 {source="MEDGEN:1826048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016882 {source="Orphanet:262164"} ! partial deletion of chromosome 20
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr20q ! 20q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0016919
name: partial deletion of the long arm of chromosome 21
subset: disease_grouping
subset: gard_rare {source="GARD:20840", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262173"}
subset: rare
synonym: "partial deletion of chromosome 21q" EXACT [Orphanet:262173]
synonym: "partial deletion of the long arm of chromosome type 21" EXACT [MONDORULE:2, Orphanet:262173]
synonym: "partial monosomy of chromosome 21q" EXACT [Orphanet:262173]
synonym: "partial monosomy of the long arm of chromosome 21" EXACT [Orphanet:262173]
xref: GARD:20840 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262173", source="Orphanet:262173/attributed", source="Orphanet:262173/ntbt"}
xref: MEDGEN:1825976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262173 {source="MONDO:equivalentTo"}
xref: UMLS:C5679731 {source="MEDGEN:1825976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr21q ! 21q (Human)

[Term]
id: MONDO:0016920
name: obsolete partial deletion of the long arm of chromosome 22
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022760

[Term]
id: MONDO:0016921
name: partial duplication of chromosome 1
subset: disease_grouping
subset: gard_rare {source="GARD:20842", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262191"}
subset: rare
synonym: "partial duplication of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262191]
synonym: "partial trisomy of chromosome 1" EXACT [Orphanet:262191]
xref: GARD:20842 {source="MONDO:GARD"}
xref: MEDGEN:1379629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262191 {source="MONDO:equivalentTo"}
xref: SCTID:726338000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518488 {source="MEDGEN:1379629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr1 ! chromosome 1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016922
name: partial duplication of chromosome 2
subset: disease_grouping
subset: gard_rare {source="GARD:20843", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262196"}
subset: rare
synonym: "partial duplication of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262196]
synonym: "partial trisomy of chromosome 2" EXACT [Orphanet:262196]
xref: GARD:20843 {source="MONDO:GARD"}
xref: MEDGEN:1372476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262196 {source="MONDO:equivalentTo"}
xref: SCTID:726340005 {source="MONDO:equivalentTo"}
xref: UMLS:C4518490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1372476"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr2 ! chromosome 2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016923
name: partial duplication of chromosome 3
subset: disease_grouping
subset: gard_rare {source="GARD:20844", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262201"}
subset: rare
synonym: "partial duplication of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262201]
synonym: "partial trisomy of chromosome 3" EXACT [Orphanet:262201]
xref: GARD:20844 {source="MONDO:GARD"}
xref: MEDGEN:1372547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262201 {source="MONDO:equivalentTo"}
xref: SCTID:726341009 {source="MONDO:equivalentTo"}
xref: UMLS:C4518491 {source="MEDGEN:1372547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr3 ! chromosome 3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016924
name: partial duplication of chromosome 4
subset: disease_grouping
subset: gard_rare {source="GARD:20845", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262206"}
subset: rare
synonym: "partial duplication of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262206]
synonym: "partial trisomy of chromosome 4" EXACT [Orphanet:262206]
xref: GARD:20845 {source="MONDO:GARD"}
xref: MEDGEN:1392317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262206 {source="MONDO:equivalentTo"}
xref: SCTID:726342002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518492 {source="MEDGEN:1392317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr4 ! chromosome 4 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016925
name: partial trisomy/tetrasomy of chromosome 5
subset: disease_grouping
subset: gard_rare {source="GARD:20846", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262211"}
subset: rare
synonym: "partial duplication/triplication of chromosome 5" EXACT [Orphanet:262211]
synonym: "partial trisomy/tetrasomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262211]
xref: GARD:20846 {source="MONDO:GARD"}
xref: MEDGEN:1841547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262211 {source="MONDO:equivalentTo"}
xref: UMLS:C5816686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841547"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr5 ! chromosome 5 (Human)

[Term]
id: MONDO:0016926
name: obsolete Geleophysic dysplasia
is_obsolete: true
replaced_by: MONDO:0000127

[Term]
id: MONDO:0016927
name: partial duplication of chromosome 6
subset: disease_grouping
subset: gard_rare {source="GARD:20847", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262628"}
subset: rare
synonym: "partial duplication of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262628]
synonym: "partial trisomy of chromosome 6" EXACT [Orphanet:262628]
xref: GARD:20847 {source="MONDO:GARD"}
xref: MEDGEN:1379251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262628 {source="MONDO:equivalentTo"}
xref: SCTID:726345000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518495 {source="MEDGEN:1379251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr6 ! chromosome 6 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016928
name: partial duplication of chromosome 7
subset: disease_grouping
subset: gard_rare {source="GARD:20848", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262633"}
subset: rare
synonym: "partial duplication of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262633]
synonym: "partial trisomy of chromosome 7" EXACT [Orphanet:262633]
xref: GARD:20848 {source="MONDO:GARD"}
xref: MEDGEN:1383136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262633 {source="MONDO:equivalentTo"}
xref: SCTID:726346004 {source="MONDO:equivalentTo"}
xref: UMLS:C4518496 {source="MEDGEN:1383136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr7 ! chromosome 7 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016929
name: partial duplication of chromosome 8
subset: disease_grouping
subset: gard_rare {source="GARD:20849", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:262638"}
subset: rare
synonym: "partial duplication of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262638]
synonym: "partial trisomy of chromosome 8" EXACT [Orphanet:262638]
xref: GARD:20849 {source="MONDO:GARD"}
xref: MEDGEN:419136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537941 {source="MONDO:equivalentTo"}
xref: Orphanet:262638 {source="MONDO:equivalentTo"}
xref: SCTID:726347008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419136"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016930
name: partial trisomy/tetrasomy of chromosome 9
subset: disease_grouping
subset: gard_rare {source="GARD:20850", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:262643"}
subset: rare
synonym: "partial duplication/triplication of chromosome 9" EXACT [Orphanet:262643]
synonym: "partial trisomy/tetrasomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262643]
xref: GARD:20850 {source="MONDO:GARD"}
xref: MEDGEN:1841529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262643 {source="MONDO:equivalentTo"}
xref: UMLS:C5816685 {source="MEDGEN:1841529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Human)

[Term]
id: MONDO:0016931
name: partial duplication of chromosome 10
subset: disease_grouping
subset: gard_rare {source="GARD:20851", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262648"}
subset: rare
synonym: "partial trisomy of chromosome 10" EXACT [Orphanet:262648]
xref: GARD:20851 {source="MONDO:GARD"}
xref: MEDGEN:1384114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262648 {source="MONDO:equivalentTo"}
xref: SCTID:726349006 {source="MONDO:equivalentTo"}
xref: UMLS:C4518498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1384114"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr10 ! chromosome 10 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016932
name: partial duplication of chromosome 11
subset: disease_grouping
subset: gard_rare {source="GARD:20852", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262653"}
subset: rare
synonym: "partial duplication of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262653]
synonym: "partial trisomy of chromosome 11" EXACT [Orphanet:262653]
xref: GARD:20852 {source="MONDO:GARD"}
xref: MEDGEN:1386777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262653 {source="MONDO:equivalentTo"}
xref: SCTID:726350006 {source="MONDO:equivalentTo"}
xref: UMLS:C4518499 {source="MEDGEN:1386777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr11 ! chromosome 11 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016933
name: partial trisomy/tetrasomy of the short arm of chromosome 12
subset: disease_grouping
subset: gard_rare {source="GARD:20853", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262658"}
subset: rare
synonym: "partial duplication/triplication of chromosome 12p" EXACT [Orphanet:262658]
synonym: "partial duplication/triplication of the short arm of chromosome 12" EXACT [Orphanet:262658]
synonym: "partial trisomy/tetrasomy of chromosome 12p" EXACT [Orphanet:262658]
synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:262658]
xref: GARD:20853 {source="MONDO:GARD"}
xref: MEDGEN:1826045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262658 {source="MONDO:equivalentTo"}
xref: UMLS:C5679724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826045"}
is_a: MONDO:0042968 ! partial duplication of chromosome 12

[Term]
id: MONDO:0016934
name: partial duplication of chromosome 16
subset: disease_grouping
subset: gard_rare {source="GARD:20854", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262672"}
subset: rare
synonym: "partial duplication of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262672]
synonym: "partial trisomy of chromosome 16" EXACT [Orphanet:262672]
xref: GARD:20854 {source="MONDO:GARD"}
xref: MEDGEN:1379206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262672 {source="MONDO:equivalentTo"}
xref: SCTID:726355001 {source="MONDO:equivalentTo"}
xref: UMLS:C4518504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379206"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016935
name: partial duplication of chromosome 17
subset: disease_grouping
subset: gard_rare {source="GARD:20855", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262677"}
subset: rare
synonym: "partial duplication of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262677]
synonym: "partial trisomy of chromosome 17" EXACT [Orphanet:262677]
xref: GARD:20855 {source="MONDO:GARD"}
xref: MEDGEN:1387434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262677 {source="MONDO:equivalentTo"}
xref: SCTID:726356000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387434"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr17 ! chromosome 17 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016936
name: partial trisomy/tetrasomy of chromosome 18
def: "A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18." [https://orcid.org/0000-0002-4142-7153]
subset: disease_grouping
subset: gard_rare {source="GARD:20856", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262682"}
subset: rare
synonym: "partial duplication/triplication of chromosome 18" EXACT [Orphanet:262682]
synonym: "partial trisomy/tetrasomy of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262682]
xref: GARD:20856 {source="MONDO:GARD"}
xref: MEDGEN:1841544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262682 {source="MONDO:equivalentTo"}
xref: UMLS:C5816684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841544"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human)

[Term]
id: MONDO:0016937
name: partial duplication of chromosome 19
subset: disease_grouping
subset: gard_rare {source="GARD:20857", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262687"}
subset: rare
synonym: "partial duplication of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262687]
synonym: "partial trisomy of chromosome 19" EXACT [Orphanet:262687]
xref: GARD:20857 {source="MONDO:GARD"}
xref: MEDGEN:1379548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262687 {source="MONDO:equivalentTo"}
xref: SCTID:726358004 {source="MONDO:equivalentTo"}
xref: UMLS:C4518507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379548"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr19 ! chromosome 19 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016938
name: partial trisomy of chromosome 20
subset: disease_grouping
subset: gard_rare {source="GARD:20858", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262692"}
subset: rare
synonym: "partial duplication of chromosome 20" EXACT [Orphanet:262692]
synonym: "partial trisomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262692]
xref: GARD:20858 {source="MONDO:GARD"}
xref: MEDGEN:1377617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262692 {source="MONDO:equivalentTo"}
xref: SCTID:726360002 {source="MONDO:equivalentTo"}
xref: UMLS:C4518509 {source="MEDGEN:1377617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr20 ! chromosome 20 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016939
name: partial duplication of the short arm of chromosome 2
def: "Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005337]
subset: disease_grouping
subset: gard_rare {source="GARD:5337", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262698"}
subset: rare
synonym: "2p duplication" RELATED [GARD:0005337]
synonym: "2p trisomy" RELATED [GARD:0005337]
synonym: "chromosome 2p duplication" RELATED [GARD:0005337]
synonym: "Duplication 2p" RELATED [GARD:0005337]
synonym: "partial duplication of chromosome 2p" EXACT [Orphanet:262698]
synonym: "partial duplication of the short arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262698]
synonym: "partial trisomy 2p" RELATED [GARD:0005337]
synonym: "partial trisomy of chromosome 2p" EXACT [Orphanet:262698]
synonym: "trisomy 2p" RELATED [GARD:0005337]
xref: GARD:5337 {source="MONDO:GARD"}
xref: icd11.foundation:232544112 {source="MONDO:equivalentTo", source="Orphanet:262698", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:208635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538318 {source="MONDO:equivalentTo"}
xref: Orphanet:262698 {source="MONDO:equivalentTo"}
xref: UMLS:C0795803 {source="MEDGEN:208635", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016922 {source="Orphanet:262698"} ! partial duplication of chromosome 2
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr2p ! 2p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016940
name: partial duplication of the short arm of chromosome 3
def: "Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person." [GARD:0005343]
subset: disease_grouping
subset: gard_rare {source="GARD:5343", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262707"}
subset: rare
synonym: "3p duplication" RELATED [GARD:0005343]
synonym: "3p trisomy" RELATED [GARD:0005343]
synonym: "chromosome 3p duplication" RELATED [GARD:0005343]
synonym: "Duplication 3p" RELATED [GARD:0005343]
synonym: "partial duplication of chromosome 3p" EXACT [Orphanet:262707]
synonym: "partial duplication of the short arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262707]
synonym: "partial trisomy 3p" RELATED [GARD:0005343]
synonym: "partial trisomy of chromosome 3p" EXACT [Orphanet:262707]
synonym: "partial trisomy of the short arm of chromosome 3" EXACT [Orphanet:262707]
synonym: "trisomy 3p" RELATED [GARD:0005343]
xref: GARD:5343 {source="MONDO:GARD"}
xref: icd11.foundation:514472294 {source="Orphanet:262707", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536811 {source="MONDO:equivalentTo"}
xref: Orphanet:262707 {source="MONDO:equivalentTo"}
xref: UMLS:C5679720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826042"}
is_a: MONDO:0016923 {source="Orphanet:262707"} ! partial duplication of chromosome 3
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr3p ! 3p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016941
name: partial duplication of the short arm of chromosome 4
subset: disease_grouping
subset: gard_rare {source="GARD:20861", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262716"}
subset: rare
synonym: "partial duplication of chromosome 4p" EXACT [Orphanet:262716]
synonym: "partial duplication of the short arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262716]
synonym: "partial trisomy of chromosome 4p" EXACT [Orphanet:262716]
synonym: "partial trisomy of the short arm of chromosome 4" EXACT [Orphanet:262716]
xref: GARD:20861 {source="MONDO:GARD"}
xref: icd11.foundation:1245616284 {source="Orphanet:262716", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262716 {source="MONDO:equivalentTo"}
xref: UMLS:C5679719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826041"}
is_a: MONDO:0016924 {source="Orphanet:262716"} ! partial duplication of chromosome 4
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr4p ! 4p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016942
name: partial trisomy/tetrasomy of the short arm of chromosome 5
subset: disease_grouping
subset: gard_rare {source="GARD:20862", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262725"}
subset: rare
synonym: "partial duplication/triplication of chromosome 5p" EXACT [Orphanet:262725]
synonym: "partial duplication/triplication of the short arm of chromosome 5" EXACT [Orphanet:262725]
synonym: "partial trisomy/tetrasomy of chromosome 5p" EXACT [Orphanet:262725]
synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262725]
xref: GARD:20862 {source="MONDO:GARD"}
xref: MEDGEN:1826044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262725 {source="MONDO:equivalentTo"}
xref: UMLS:C5679722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826044"}
is_a: MONDO:0016925 {source="Orphanet:262725"} ! partial trisomy/tetrasomy of chromosome 5
relationship: disease_arises_from_structure CHR:9606-chr5p {source="https://orcid.org/0000-0002-4142-7153"} ! 5p (Human)

[Term]
id: MONDO:0016943
name: partial duplication of the short arm of chromosome 6
def: "Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person." [GARD:0005352]
subset: disease_grouping
subset: gard_rare {source="GARD:5352", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262740"}
subset: rare
synonym: "6p duplication" RELATED [GARD:0005352]
synonym: "6p trisomy" RELATED [GARD:0005352]
synonym: "chromosome 6p duplication" RELATED [GARD:0005352]
synonym: "Duplication 6p" RELATED [GARD:0005352]
synonym: "partial duplication of chromosome 6p" EXACT [Orphanet:262740]
synonym: "partial duplication of the short arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262740]
synonym: "partial trisomy 6p" RELATED [GARD:0005352]
synonym: "partial trisomy of chromosome 6p" EXACT [Orphanet:262740]
synonym: "partial trisomy of the short arm of chromosome 6" EXACT [Orphanet:262740]
synonym: "trisomy 6p" RELATED [GARD:0005352]
xref: GARD:5352 {source="MONDO:GARD"}
xref: icd11.foundation:657610285 {source="MONDO:equivalentTo", source="Orphanet:262740", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537811 {source="MONDO:equivalentTo"}
xref: Orphanet:262740 {source="MONDO:equivalentTo"}
xref: UMLS:C5679721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826043"}
is_a: MONDO:0016927 {source="Orphanet:262740"} ! partial duplication of chromosome 6
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr6p ! 6p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016944
name: partial duplication of the short arm of chromosome 7
def: "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005355]
subset: disease_grouping
subset: gard_rare {source="GARD:5355", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262749"}
subset: rare
synonym: "7p duplication" RELATED [GARD:0005355]
synonym: "7p trisomy" RELATED [GARD:0005355]
synonym: "chromosome 7p duplication" RELATED [GARD:0005355]
synonym: "Duplication 7p" RELATED [GARD:0005355]
synonym: "partial duplication of chromosome 7p" EXACT [Orphanet:262749]
synonym: "partial duplication of the short arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262749]
synonym: "partial trisomy 7p" RELATED [GARD:0005355]
synonym: "partial trisomy of chromosome 7p" EXACT [Orphanet:262749]
synonym: "partial trisomy of the short arm of chromosome 7" EXACT [Orphanet:262749]
synonym: "trisomy 7p" RELATED [GARD:0005355]
xref: GARD:5355 {source="MONDO:GARD"}
xref: icd11.foundation:79901143 {source="Orphanet:262749", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:162875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537819 {source="MONDO:equivalentTo"}
xref: Orphanet:262749 {source="MONDO:equivalentTo"}
xref: UMLS:C0795820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162875"}
is_a: MONDO:0016928 {source="Orphanet:262749"} ! partial duplication of chromosome 7
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr7p ! 7p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016945
name: partial duplication of the short arm of chromosome 8
def: "Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005361]
subset: disease_grouping
subset: gard_rare {source="GARD:5361", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262758"}
subset: rare
synonym: "8p duplication" RELATED [GARD:0005361]
synonym: "8p trisomy" RELATED [GARD:0005361]
synonym: "chromosome 8p duplication" RELATED [GARD:0005361]
synonym: "Duplication 8p" RELATED [GARD:0005361]
synonym: "partial duplication of chromosome 8p" EXACT [Orphanet:262758]
synonym: "partial duplication of the short arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262758]
synonym: "partial trisomy 8p" RELATED [GARD:0005361]
synonym: "partial trisomy of chromosome 8p" EXACT [Orphanet:262758]
synonym: "partial trisomy of the short arm of chromosome 8" EXACT [Orphanet:262758]
synonym: "trisomy 8p" RELATED [GARD:0005361]
xref: GARD:5361 {source="MONDO:GARD"}
xref: icd11.foundation:1325415519 {source="MONDO:equivalentTo", source="Orphanet:262758", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1632060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262758 {source="MONDO:equivalentTo"}
xref: UMLS:C4708597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632060"}
is_a: MONDO:0016929 {source="Orphanet:262758"} ! partial duplication of chromosome 8
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr8p ! 8p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016946
name: obsolete partial trisomy of the short arm of chromosome 9
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4278" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016526

[Term]
id: MONDO:0016947
name: partial duplication of the short arm of chromosome 10
subset: disease_grouping
subset: gard_rare {source="GARD:20867", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262776"}
subset: rare
synonym: "partial duplication of chromosome 10p" EXACT [Orphanet:262776]
synonym: "partial trisomy of chromosome 10p" EXACT [Orphanet:262776]
synonym: "partial trisomy of the short arm of chromosome 10" EXACT [Orphanet:262776]
xref: GARD:20867 {source="MONDO:GARD"}
xref: icd11.foundation:1720386511 {source="MONDO:equivalentTo", source="Orphanet:262776", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262776 {source="MONDO:equivalentTo"}
xref: UMLS:C5679712 {source="MEDGEN:1826038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016931 {source="Orphanet:262776"} ! partial duplication of chromosome 10
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr10p ! 10p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016948
name: partial duplication of the short arm of chromosome 11
subset: disease_grouping
subset: gard_rare {source="GARD:20868", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262785"}
subset: rare
synonym: "partial duplication of chromosome 11p" EXACT [Orphanet:262785]
synonym: "partial duplication of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262785]
synonym: "partial trisomy of chromosome 11p" EXACT [Orphanet:262785]
synonym: "partial trisomy of the short arm of chromosome 11" EXACT [Orphanet:262785]
xref: GARD:20868 {source="MONDO:GARD"}
xref: MEDGEN:1825972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262785 {source="MONDO:equivalentTo"}
xref: UMLS:C5679716 {source="MEDGEN:1825972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016932 {source="Orphanet:262785"} ! partial duplication of chromosome 11
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr11p ! 11p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016949
name: partial duplication of the short arm of chromosome 16
def: "Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005315]
subset: disease_grouping
subset: gard_rare {source="GARD:5315", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262794"}
subset: rare
synonym: "16p duplication" RELATED [GARD:0005315]
synonym: "16p trisomy" RELATED [GARD:0005315]
synonym: "chromosome 16p duplication" RELATED [GARD:0005315]
synonym: "Duplication 16p" RELATED [GARD:0005315]
synonym: "partial duplication of chromosome 16p" EXACT [Orphanet:262794]
synonym: "partial duplication of the short arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262794]
synonym: "partial trisomy 16p" RELATED [GARD:0005315]
synonym: "partial trisomy of chromosome 16p" EXACT [Orphanet:262794]
synonym: "partial trisomy of the short arm of chromosome 16" EXACT [Orphanet:262794]
synonym: "trisomy 16p" RELATED [GARD:0005315]
xref: GARD:5315 {source="MONDO:GARD"}
xref: icd11.foundation:325064766 {source="MONDO:equivalentTo", source="Orphanet:262794", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:208643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262794 {source="MONDO:equivalentTo"}
xref: UMLS:C0795861 {source="MEDGEN:208643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016934 {source="Orphanet:262794"} ! partial duplication of chromosome 16
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr16p ! 16p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016950
name: partial duplication of the short arm of chromosome 17
subset: disease_grouping
subset: gard_rare {source="GARD:20870", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262803"}
subset: rare
synonym: "partial duplication of chromosome 17p" EXACT [Orphanet:262803]
synonym: "partial duplication of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262803]
synonym: "partial trisomy of chromosome 17p" EXACT [Orphanet:262803]
synonym: "partial trisomy of the short arm of chromosome 17" EXACT [Orphanet:262803]
xref: GARD:20870 {source="MONDO:GARD"}
xref: icd11.foundation:1672849162 {source="MONDO:equivalentTo", source="Orphanet:262803", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262803 {source="MONDO:equivalentTo"}
xref: UMLS:C5679714 {source="MEDGEN:1826039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016935 {source="Orphanet:262803"} ! partial duplication of chromosome 17
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr17p ! 17p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016951
name: partial trisomy/tetrasomy of the short arm of chromosome 18
subset: disease_grouping
subset: gard_rare {source="GARD:20871", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262812"}
subset: rare
synonym: "partial duplication/triplication of chromosome 18p" EXACT [Orphanet:262812]
synonym: "partial duplication/triplication of the short arm of chromosome 18" EXACT [Orphanet:262812]
synonym: "partial trisomy/tetrasomy of chromosome 18p" EXACT [Orphanet:262812]
synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262812]
xref: GARD:20871 {source="MONDO:GARD"}
xref: MEDGEN:1826040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262812 {source="MONDO:equivalentTo"}
xref: UMLS:C5679715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826040"}
is_a: MONDO:0016936 {source="Orphanet:262812"} ! partial trisomy/tetrasomy of chromosome 18
relationship: disease_arises_from_structure CHR:9606-chr18p {source="https://orcid.org/0000-0002-4142-7153"} ! 18p (Human)

[Term]
id: MONDO:0016952
name: partial duplication of the long arm of chromosome 1
subset: disease_grouping
subset: gard_rare {source="GARD:20872", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262833"}
subset: rare
synonym: "1q duplications" RELATED [GARD:0010831]
synonym: "partial duplication of chromosome 1q" EXACT [Orphanet:262833]
synonym: "partial duplication of the long arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262833]
synonym: "partial trisomy 1q" RELATED [GARD:0010831]
synonym: "partial trisomy of chromosome 1q" EXACT [Orphanet:262833]
synonym: "partial trisomy of the long arm of chromosome 1" EXACT [Orphanet:262833]
xref: GARD:20872 {source="MONDO:GARD"}
xref: icd11.foundation:73883755 {source="MONDO:equivalentTo", source="Orphanet:262833", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1642329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200958 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C36521 {source="MONDO:relatedTo"}
xref: Orphanet:262833 {source="MONDO:equivalentTo"}
xref: UMLS:C4708598 {source="MEDGEN:1642329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016921 {source="Orphanet:262833"} ! partial duplication of chromosome 1
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr1q ! 1q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016953
name: partial duplication of the long arm of chromosome 2
def: "Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005340]
subset: disease_grouping
subset: gard_rare {source="GARD:5340", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262842"}
subset: rare
synonym: "2q duplication" RELATED [GARD:0005340]
synonym: "2q trisomy" RELATED [GARD:0005340]
synonym: "chromosome 2q duplication" RELATED [GARD:0005340]
synonym: "Duplication 2q" RELATED [GARD:0005340]
synonym: "partial duplication of chromosome 2q" EXACT [Orphanet:262842]
synonym: "partial duplication of the long arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262842]
synonym: "partial trisomy 2q" RELATED [GARD:0005340]
synonym: "partial trisomy of chromosome 2q" EXACT [Orphanet:262842]
synonym: "partial trisomy of the long arm of chromosome 2" EXACT [Orphanet:262842]
synonym: "trisomy 2q" RELATED [GARD:0005340]
xref: GARD:5340 {source="MONDO:GARD"}
xref: icd11.foundation:472179859 {source="MONDO:equivalentTo", source="Orphanet:262842", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:162771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535367 {source="MONDO:equivalentTo"}
xref: Orphanet:262842 {source="MONDO:equivalentTo"}
xref: UMLS:C0795805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162771"}
is_a: MONDO:0016922 {source="Orphanet:262842"} ! partial duplication of chromosome 2
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr2q ! 2q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016954
name: partial duplication of the long arm of chromosome 3
def: "Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." [GARD:0005345]
subset: disease_grouping
subset: gard_rare {source="GARD:5345", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262851"}
subset: rare
synonym: "chromosome 3, trisomy 3q" RELATED [GARD:0005345]
synonym: "chromosome 3q duplication" RELATED [GARD:0005345]
synonym: "Duplication 3q" RELATED [GARD:0005345]
synonym: "partial duplication of chromosome 3q" EXACT [Orphanet:262851]
synonym: "partial duplication of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262851]
synonym: "partial trisomy of chromosome 3q" EXACT [Orphanet:262851]
synonym: "trisomy 3q" RELATED [GARD:0005345]
xref: GARD:5345 {source="MONDO:GARD"}
xref: icd11.foundation:1132834719 {source="MONDO:equivalentTo", source="Orphanet:262851", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:208636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536813 {source="MONDO:equivalentTo"}
xref: Orphanet:262851 {source="MONDO:equivalentTo"}
xref: UMLS:C0795809 {source="MEDGEN:208636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016923 {source="Orphanet:262851"} ! partial duplication of chromosome 3
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr3q ! 3q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016955
name: partial duplication of the long arm of chromosome 4
def: "Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person." [GARD:0005347]
subset: disease_grouping
subset: gard_rare {source="GARD:5347", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262860"}
subset: rare
synonym: "4q duplication" RELATED [GARD:0005347]
synonym: "4q trisomy" RELATED [GARD:0005347]
synonym: "chromosome 4, partial trisomy 4q" EXACT [DOID:0111159]
synonym: "chromosome 4q duplication" RELATED [GARD:0005347]
synonym: "distal 4q trisomy" EXACT [DOID:0111159]
synonym: "dup(4q) syndrome, partial" EXACT [DOID:0111159]
synonym: "Duplication 4q" RELATED [GARD:0005347]
synonym: "Duplication 4q syndrome, partial" EXACT [DOID:0111159]
synonym: "partial duplication of chromosome 4q" EXACT [Orphanet:262860]
synonym: "partial duplication of the long arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262860]
synonym: "partial trisomy 4q" RELATED [GARD:0005347]
synonym: "partial trisomy 4q syndrome" EXACT [DOID:0111159]
synonym: "partial trisomy distal 4q" RELATED [DOID:0111159]
synonym: "partial trisomy of chromosome 4q" EXACT [Orphanet:262860]
synonym: "partial trisomy of the long arm of chromosome 4" EXACT [Orphanet:262860]
synonym: "trisomy 4q" RELATED [GARD:0005347]
xref: DOID:0111159 {source="MONDO:equivalentTo"}
xref: GARD:5347 {source="MONDO:GARD"}
xref: icd11.foundation:959729903 {source="MONDO:equivalentTo", source="Orphanet:262860", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:162874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537644 {source="MONDO:equivalentTo"}
xref: Orphanet:1739 {source="GARD:0005347"}
xref: Orphanet:262860 {source="MONDO:equivalentTo"}
xref: UMLS:C0795812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162874"}
is_a: MONDO:0000762 {source="DOID:0111159"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016924 {source="Orphanet:262860"} ! partial duplication of chromosome 4
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr4q ! 4q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016956
name: partial trisomy of the long arm of chromosome 5
def: "Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." [GARD:0005351]
subset: disease_grouping
subset: gard_rare {source="GARD:5351", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262869"}
subset: rare
synonym: "5q duplication" RELATED [GARD:0005351]
synonym: "5q trisomy" RELATED [GARD:0005351]
synonym: "chromosome 5q duplication" RELATED [GARD:0005351]
synonym: "Duplication 5q" RELATED [GARD:0005351]
synonym: "partial duplication of chromosome 5q" EXACT [Orphanet:262869]
synonym: "partial duplication of the long arm of chromosome 5" EXACT [Orphanet:262869]
synonym: "partial trisomy 5q" RELATED [GARD:0005351]
synonym: "partial trisomy of chromosome 5q" EXACT [Orphanet:262869]
synonym: "partial trisomy of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262869]
synonym: "trisomy 5q" RELATED [GARD:0005351]
xref: GARD:5351 {source="MONDO:GARD"}
xref: icd11.foundation:722703441 {source="MONDO:equivalentTo", source="Orphanet:262869", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:315659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537650 {source="MONDO:equivalentTo"}
xref: Orphanet:262869 {source="MONDO:equivalentTo"}
xref: UMLS:C1802398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:315659"}
is_a: MONDO:0016925 {source="Orphanet:262869"} ! partial trisomy/tetrasomy of chromosome 5
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr5q ! 5q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016957
name: partial duplication of the long arm of chromosome 6
def: "Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person." [GARD:0005353]
subset: disease_grouping
subset: gard_rare {source="GARD:5353", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262878"}
subset: rare
synonym: "6q duplication" RELATED [GARD:0005353]
synonym: "6q trisomy" RELATED [GARD:0005353]
synonym: "chromosome 6q duplication" RELATED [GARD:0005353]
synonym: "Duplication 6q" RELATED [GARD:0005353]
synonym: "partial duplication of chromosome 6q" EXACT [Orphanet:262878]
synonym: "partial duplication of the long arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262878]
synonym: "partial trisomy 6q" RELATED [GARD:0005353]
synonym: "partial trisomy of chromosome 6q" EXACT [Orphanet:262878]
synonym: "partial trisomy of the long arm of chromosome 6" EXACT [Orphanet:262878]
synonym: "trisomy 6q" RELATED [GARD:0005353]
xref: GARD:5353 {source="MONDO:GARD"}
xref: icd11.foundation:149091243 {source="MONDO:equivalentTo", source="Orphanet:262878", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537812 {source="MONDO:equivalentTo"}
xref: Orphanet:262878 {source="MONDO:equivalentTo"}
xref: UMLS:C5679708 {source="MEDGEN:1826037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016927 {source="Orphanet:262878"} ! partial duplication of chromosome 6
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr6q ! 6q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016958
name: partial duplication of the long arm of chromosome 7
def: "Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005357]
subset: disease_grouping
subset: gard_rare {source="GARD:5357", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262887"}
subset: rare
synonym: "7q duplication" RELATED [GARD:0005357]
synonym: "7q trisomy" RELATED [GARD:0005357]
synonym: "chromosome 7q duplication" RELATED [GARD:0005357]
synonym: "Duplication 7q" RELATED [GARD:0005357]
synonym: "partial duplication of chromosome 7q" EXACT [Orphanet:262887]
synonym: "partial duplication of the long arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262887]
synonym: "partial trisomy 7q" RELATED [GARD:0005357]
synonym: "partial trisomy of chromosome 7q" EXACT [Orphanet:262887]
synonym: "partial trisomy of the long arm of chromosome 7" EXACT [Orphanet:262887]
synonym: "trisomy 7q" RELATED [GARD:0005357]
xref: GARD:5357 {source="MONDO:GARD"}
xref: icd11.foundation:462724513 {source="MONDO:equivalentTo", source="Orphanet:262887", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:208637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537821 {source="MONDO:equivalentTo"}
xref: Orphanet:262887 {source="MONDO:equivalentTo"}
xref: UMLS:C0795821 {source="MEDGEN:208637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016928 {source="Orphanet:262887"} ! partial duplication of chromosome 7
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr7q ! 7q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016959
name: partial duplication of the long arm of chromosome 8
subset: disease_grouping
subset: gard_rare {source="GARD:20879", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262896"}
subset: rare
synonym: "partial duplication of chromosome 8q" EXACT [Orphanet:262896]
synonym: "partial duplication of the long arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262896]
synonym: "partial trisomy of chromosome 8q" EXACT [Orphanet:262896]
synonym: "partial trisomy of the long arm of chromosome 8" EXACT [Orphanet:262896]
xref: GARD:20879 {source="MONDO:GARD"}
xref: icd11.foundation:397762525 {source="MONDO:equivalentTo", source="Orphanet:262896", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262896 {source="MONDO:equivalentTo"}
xref: UMLS:C5679703 {source="MEDGEN:1826035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016929 {source="Orphanet:262896"} ! partial duplication of chromosome 8
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr8q ! 8q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016960
name: partial trisomy of the long arm of chromosome 9
subset: disease_grouping
subset: gard_rare {source="GARD:20880", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262905"}
subset: rare
synonym: "partial duplication of chromosome 9q" EXACT [Orphanet:262905]
synonym: "partial duplication of the long arm of chromosome 9" EXACT [Orphanet:262905]
synonym: "partial trisomy of chromosome 9q" EXACT [Orphanet:262905]
synonym: "partial trisomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262905]
xref: GARD:20880 {source="MONDO:GARD"}
xref: MEDGEN:1826034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262905 {source="MONDO:equivalentTo"}
xref: UMLS:C5679702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826034"}
is_a: MONDO:0016930 {source="Orphanet:262905"} ! partial trisomy/tetrasomy of chromosome 9
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr9q ! 9q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016961
name: partial duplication of the long arm of chromosome 10
alt_id: MONDO:0042978
subset: disease_grouping
subset: gard_rare {source="GARD:20881", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262914"}
subset: rare
synonym: "partial duplication of chromosome 10q" EXACT [Orphanet:262914]
synonym: "partial trisomy of chromosome 10q" EXACT [Orphanet:262914]
synonym: "partial trisomy of the long arm of chromosome 10" EXACT [Orphanet:262914]
xref: GARD:20881 {source="MONDO:GARD"}
xref: icd11.foundation:2004070452 {source="Orphanet:262914", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:539251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262914 {source="MONDO:equivalentTo"}
xref: UMLS:C0265437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539251"}
is_a: MONDO:0016931 {source="Orphanet:262914"} ! partial duplication of chromosome 10
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr10q ! 10q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016962
name: obsolete partial duplication of the long arm of chromosome 11
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4278" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022173

[Term]
id: MONDO:0016963
name: obsolete partial duplication of the long arm of chromosome 13
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4278" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022177

[Term]
id: MONDO:0016964
name: partial duplication of the long arm of chromosome 14
subset: disease_grouping
subset: gard_rare {source="GARD:20884", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262941"}
subset: rare
synonym: "14q duplication" RELATED [GARD:0005311]
synonym: "14q trisomy" RELATED [GARD:0005311]
synonym: "chromosome 14q duplication" RELATED [GARD:0005311]
synonym: "Duplication 14q" RELATED [GARD:0005311]
synonym: "partial duplication of chromosome 14q" EXACT [Orphanet:262941]
synonym: "partial duplication of the long arm of chromosome type 14" EXACT [MONDORULE:2, Orphanet:262941]
synonym: "partial trisomy 14q" RELATED [GARD:0005311]
synonym: "partial trisomy of chromosome 14q" EXACT [Orphanet:262941]
synonym: "partial trisomy of the long arm of chromosome 14" EXACT [Orphanet:262941]
synonym: "trisomy 14q" RELATED [GARD:0005311]
xref: GARD:20884 {source="MONDO:GARD"}
xref: MEDGEN:1826036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262941 {source="MONDO:equivalentTo"}
xref: UMLS:C5679704 {source="MEDGEN:1826036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr14q ! 14q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016965
name: partial duplication of the long arm of chromosome 15
def: "Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0005314]
subset: disease_grouping
subset: gard_rare {source="GARD:5314", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262950"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "15q duplication" RELATED [GARD:0005314]
synonym: "15q trisomy" RELATED [GARD:0005314]
synonym: "chromosome 15q duplication" RELATED [GARD:0005314]
synonym: "Duplication 15q" RELATED [GARD:0005314]
synonym: "partial duplication of chromosome 15q" EXACT [Orphanet:262950]
synonym: "partial duplication of the long arm of chromosome type 15" EXACT [MONDORULE:2, Orphanet:262950]
synonym: "partial trisomy 15q" RELATED [GARD:0005314]
synonym: "partial trisomy of chromosome 15q" EXACT [Orphanet:262950]
synonym: "partial trisomy of the long arm of chromosome 15" EXACT [Orphanet:262950]
synonym: "trisomy 15q" RELATED [GARD:0005314]
xref: GARD:5314 {source="MONDO:GARD"}
xref: MEDGEN:167076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538040 {source="MONDO:equivalentTo"}
xref: Orphanet:262950 {source="MONDO:equivalentTo"}
xref: UMLS:C0795858 {source="MEDGEN:167076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr15q ! 15q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016966
name: partial trisomy of the long arm of chromosome 16
subset: disease_grouping
subset: gard_rare {source="GARD:20886", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262959"}
subset: rare
synonym: "16q duplication" RELATED [GARD:0005316]
synonym: "16q trisomy" RELATED [GARD:0005316]
synonym: "chromosome 16q duplication" RELATED [GARD:0005316]
synonym: "Duplication 16q" RELATED [GARD:0005316]
synonym: "partial duplication of chromosome 16q" EXACT [Orphanet:262959]
synonym: "partial duplication of the long arm of chromosome 16" EXACT [Orphanet:262959]
synonym: "partial trisomy 16q" RELATED [GARD:0005316]
synonym: "partial trisomy of chromosome 16q" EXACT [Orphanet:262959]
synonym: "partial trisomy of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262959]
synonym: "trisomy 16q" RELATED [GARD:0005316]
xref: GARD:20886 {source="MONDO:GARD"}
xref: icd11.foundation:126160943 {source="Orphanet:262959", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1797784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538042 {source="MONDO:equivalentTo"}
xref: Orphanet:262959 {source="MONDO:equivalentTo"}
xref: UMLS:C5566361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1797784"}
is_a: MONDO:0016934 {source="Orphanet:262959"} ! partial duplication of chromosome 16
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr16q ! 16q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016967
name: partial duplication of the long arm of chromosome 17
subset: disease_grouping
subset: gard_rare {source="GARD:20887", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262968"}
subset: rare
synonym: "17q duplication" RELATED [GARD:0005320]
synonym: "17q trisomy" RELATED [GARD:0005320]
synonym: "chromosome 17q duplication" RELATED [GARD:0005320]
synonym: "Duplication 17q" RELATED [GARD:0005320]
synonym: "partial duplication of chromosome 17q" EXACT [Orphanet:262968]
synonym: "partial duplication of the long arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262968]
synonym: "partial trisomy 17q" RELATED [GARD:0005320]
synonym: "partial trisomy of chromosome 17q" EXACT [Orphanet:262968]
synonym: "partial trisomy of the long arm of chromosome 17" EXACT [Orphanet:262968]
synonym: "trisomy 17q" RELATED [GARD:0005320]
xref: GARD:20887 {source="MONDO:GARD"}
xref: icd11.foundation:1871996278 {source="MONDO:equivalentTo", source="Orphanet:262968", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262968 {source="MONDO:equivalentTo"}
xref: UMLS:C5679698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826032"}
is_a: MONDO:0016935 {source="Orphanet:262968"} ! partial duplication of chromosome 17
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr17q ! 17q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016968
name: partial trisomy of the long arm of chromosome 18
subset: disease_grouping
subset: gard_rare {source="GARD:20888", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262977"}
subset: rare
synonym: "18q duplication" RELATED [GARD:0005324]
synonym: "18q partial trisomy" RELATED [GARD:0005324]
synonym: "18q trisomy" RELATED [GARD:0005324]
synonym: "chromosome 18q duplication" RELATED [GARD:0005324]
synonym: "Duplication 18q" RELATED [GARD:0005324]
synonym: "partial duplication of chromosome 18q" EXACT [Orphanet:262977]
synonym: "partial duplication of the long arm of chromosome 18" EXACT [Orphanet:262977]
synonym: "partial trisomy of chromosome 18q" EXACT [Orphanet:262977]
synonym: "partial trisomy of the long arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262977]
synonym: "trisomy 18q" RELATED [GARD:0005324]
xref: GARD:20888 {source="MONDO:GARD"}
xref: MEDGEN:167200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538308 {source="MONDO:equivalentTo"}
xref: Orphanet:262977 {source="MONDO:equivalentTo"}
xref: UMLS:C0809935 {source="MEDGEN:167200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016936 {source="Orphanet:262977"} ! partial trisomy/tetrasomy of chromosome 18
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr18q ! 18q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016969
name: partial duplication of the long arm of chromosome 19
subset: disease_grouping
subset: gard_rare {source="GARD:20889", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262986"}
subset: rare
synonym: "19q duplication" RELATED [GARD:0005326]
synonym: "19q trisomy" RELATED [GARD:0005326]
synonym: "chromosome 19q duplication" RELATED [GARD:0005326]
synonym: "Duplication 19q" RELATED [GARD:0005326]
synonym: "partial duplication of chromosome 19q" EXACT [Orphanet:262986]
synonym: "partial duplication of the long arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262986]
synonym: "partial trisomy 19q" RELATED [GARD:0005326]
synonym: "partial trisomy of chromosome 19q" EXACT [Orphanet:262986]
synonym: "partial trisomy of the long arm of chromosome 19" EXACT [Orphanet:262986]
synonym: "trisomy 19q" RELATED [GARD:0005326]
xref: GARD:20889 {source="MONDO:GARD"}
xref: icd11.foundation:1595108486 {source="MONDO:equivalentTo", source="Orphanet:262986", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:162782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538311 {source="MONDO:equivalentTo"}
xref: Orphanet:262986 {source="MONDO:equivalentTo"}
xref: UMLS:C0795871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162782"}
is_a: MONDO:0016937 {source="Orphanet:262986"} ! partial duplication of chromosome 19
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr19q ! 19q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016970
name: partial trisomy of the long arm of chromosome 20
subset: disease_grouping
subset: gard_rare {source="GARD:20890", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262995"}
subset: rare
synonym: "partial duplication of chromosome 20q" EXACT [Orphanet:262995]
synonym: "partial duplication of the long arm of chromosome 20" EXACT [Orphanet:262995]
synonym: "partial trisomy of chromosome 20q" EXACT [Orphanet:262995]
synonym: "partial trisomy of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262995]
xref: GARD:20890 {source="MONDO:GARD"}
xref: icd11.foundation:1196484734 {source="MONDO:equivalentTo", source="Orphanet:262995", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262995 {source="MONDO:equivalentTo"}
xref: UMLS:C5679695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826031"}
is_a: MONDO:0016938 {source="Orphanet:262995"} ! partial trisomy of chromosome 20
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr20q ! 20q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016971
name: limb-girdle muscular dystrophy
def: "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." [Orphanet:263]
subset: disease_grouping
subset: gard_rare {source="GARD:6907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:263"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erb's muscular dystrophy" EXACT [DOID:11724]
synonym: "Leyden-Mbius muscular dystrophy" EXACT [DOID:11724]
synonym: "Leyden-Mobius muscular dystrophy" EXACT [DOID:11724]
synonym: "LGMD" EXACT ABBREVIATION [Orphanet:263]
synonym: "limb girdle muscular dystrophy" EXACT [DOID:11724]
synonym: "limb-girdle muscular dystrophy" EXACT CLINGEN_LABEL []
xref: DOID:11724 {source="MONDO:equivalentTo"}
xref: GARD:6907 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="DOID:11724", source="Orphanet:263/inclusion", source="Orphanet:263", source="Orphanet:263/ntbt"}
xref: icd11.foundation:887807212 {source="MONDO:equivalentTo", source="Orphanet:263"}
xref: MEDGEN:151940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049288 {source="Orphanet:263/e", source="DOID:11724", source="MONDO:equivalentTo", source="Orphanet:263"}
xref: NANDO:1200490 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200858 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84828 {source="DOID:11724", source="MONDO:equivalentTo"}
xref: Orphanet:263 {source="DOID:11724", source="MONDO:equivalentTo"}
xref: SCTID:56096001 {source="DOID:11724"}
xref: SCTID:78468005 {source="MONDO:equivalentTo"}
xref: SCTID:93153005 {source="DOID:11724"}
xref: UMLS:C0686353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:151940"}
is_a: MONDO:0016106 {source="Orphanet:263"} ! progressive muscular dystrophy
is_a: MONDO:0020121 {source="DOID:11724", source="MESH:D049288", source="MONDO:Redundant", source="NCIT:C84828", source="Orphanet:263/inferred"} ! muscular dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy" xsd:anyURI {source="GARD:0006907"}

[Term]
id: MONDO:0016972
name: partial duplication of the long arm of chromosome 22
subset: disease_grouping
subset: gard_rare {source="GARD:20891", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:263004"}
subset: rare
synonym: "partial duplication of chromosome 22q" EXACT [Orphanet:263004]
synonym: "partial duplication of the long arm of chromosome type 22" EXACT [MONDORULE:2, Orphanet:263004]
synonym: "partial trisomy of chromosome 22q" EXACT [Orphanet:263004]
synonym: "partial trisomy of the long arm of chromosome 22" EXACT [Orphanet:263004]
xref: GARD:20891 {source="MONDO:GARD"}
xref: MEDGEN:1826033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263004 {source="MONDO:equivalentTo"}
xref: UMLS:C5679699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826033"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr22q ! 22q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0016973
name: obsolete thymoma type A
is_obsolete: true
replaced_by: MONDO:0002588

[Term]
id: MONDO:0016974
name: thymoma type B
def: "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma." [NCIT:C7114]
subset: gard_rare {source="GARD:20893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:263317"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:263317"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dendritic cell thymoma" EXACT [NCIT:C7114]
synonym: "dendritic cell thymoma" EXACT [MONDO:0002591]
synonym: "dendritic cell thymoma (disease)" EXACT [MONDO:patterns/location]
synonym: "epithelioid thymoma" EXACT [DOID:3282, NCIT:C7114]
synonym: "plump cell thymoma" EXACT [NCIT:C7114]
synonym: "primary thymic epithelial neoplasm type B" EXACT [Orphanet:263317]
synonym: "primary thymic epithelial tumor type B" EXACT [Orphanet:263317]
synonym: "primary thymic epithelial tumour type B" EXACT OMO:0003005 []
synonym: "thymoma type B" EXACT [NCIT:C7114]
xref: DOID:3282 {source="MONDO:equivalentTo"}
xref: GARD:20893 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:263317/ntbt", source="Orphanet:263317"}
xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:263317/ntbt", source="Orphanet:263317"}
xref: MEDGEN:231253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7114 {source="MONDO:equivalentTo", source="DOID:3282"}
xref: Orphanet:263317 {source="MONDO:equivalentTo"}
xref: UMLS:C1328042 {source="MEDGEN:231253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004805 {source="DOID:3282", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder
is_a: MONDO:0006456 {source="DOID:3282", source="MONDO:Redundant", source="NCIT:C7114", source="Orphanet:263317"} ! thymoma
intersection_of: MONDO:0006456 ! thymoma
intersection_of: disease_has_location CL:0000451 ! dendritic cell

[Term]
id: MONDO:0016975
name: thymoma type AB
def: "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." [NCIT:C6885]
subset: gard_rare {source="GARD:20894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:263324"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:263324"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mixed type thymoma" EXACT [NCIT:C6885]
synonym: "primary thymic epithelial neoplasm type AB" EXACT [Orphanet:263324]
synonym: "primary thymic epithelial tumor type AB" EXACT [Orphanet:263324]
synonym: "primary thymic epithelial tumour type AB" EXACT OMO:0003005 []
synonym: "thymoma type AB" EXACT [MONDO:0002589, NCIT:C6885]
synonym: "thymoma, mixed type" EXACT [DOID:3280]
xref: DOID:3280 {source="MONDO:equivalentTo"}
xref: EFO:1000582 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20894 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:263324", source="Orphanet:263324/ntbt"}
xref: ICD10CM:D15.0 {source="MONDO:relatedTo", source="Orphanet:263324", source="Orphanet:263324/ntbt"}
xref: ICDO:8582/1 {source="NCIT:C6885"}
xref: MEDGEN:220414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6885 {source="EFO:1000582", source="MONDO:equivalentTo", source="DOID:3280"}
xref: Orphanet:263324 {source="MONDO:equivalentTo"}
xref: SCTID:128709000 {source="DOID:3280"}
xref: UMLS:C1266092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220414"}
is_a: MONDO:0006456 {source="DOID:3280", source="EFO:1000582", source="NCIT:C6885", source="Orphanet:263324"} ! thymoma

[Term]
id: MONDO:0016976
name: well-differentiated thymic neuroendocrine carcinoma
subset: gard_rare {source="GARD:20895", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:263331"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:263331"}
subset: rare
xref: GARD:20895 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:263331/ntbt", source="Orphanet:263331"}
xref: MEDGEN:931134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263331 {source="MONDO:equivalentTo"}
xref: SCTID:717922007 {source="MONDO:equivalentTo"}
xref: UMLS:C4305465 {source="MEDGEN:931134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020516 {source="Orphanet:263331"} ! thymic neuroendocrine carcinoma

[Term]
id: MONDO:0016977
name: moderately-differentiated thymic neuroendocrine carcinoma
subset: gard_rare {source="GARD:20896", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:263335"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:263335"}
subset: rare
xref: GARD:20896 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:263335", source="Orphanet:263335/ntbt"}
xref: MEDGEN:1843377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263335 {source="MONDO:equivalentTo"}
xref: UMLS:C5680730 {source="MONDO:equivalentTo", source="MEDGEN:1843377", source="MONDO:MEDGEN"}
is_a: MONDO:0020516 {source="Orphanet:263335"} ! thymic neuroendocrine carcinoma

[Term]
id: MONDO:0016978
name: poorly differentiated thymic neuroendocrine carcinoma
subset: gard_rare {source="GARD:20897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:263339"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:263339"}
subset: rare
xref: GARD:20897 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:263339/ntbt", source="Orphanet:263339"}
xref: MEDGEN:931135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263339 {source="MONDO:equivalentTo"}
xref: SCTID:717921000 {source="MONDO:equivalentTo"}
xref: UMLS:C4305466 {source="MEDGEN:931135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020516 {source="Orphanet:263339"} ! thymic neuroendocrine carcinoma

[Term]
id: MONDO:0016979
name: MRCS syndrome
def: "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400." [Orphanet:263347]
subset: gard_rare {source="GARD:17255", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263347"}
subset: orphanet_rare {source="Orphanet:263347"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome" EXACT [Orphanet:263347]
xref: GARD:17255 {source="MONDO:GARD"}
xref: MEDGEN:1666962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263347 {source="MONDO:equivalentTo"}
xref: UMLS:C4749856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1666962"}
is_a: MONDO:0019118 {source="Orphanet:263347"} ! inherited retinal dystrophy

[Term]
id: MONDO:0016980
name: ATR-X-related syndrome
comment: The obsoletion of this term has been reversed in the Mondo release of January 2024.
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "ATR-X-related syndrome" EXACT []
xref: Orphanet:263355 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:263355", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:263355", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6572" xsd:string

[Term]
id: MONDO:0016981
name: infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
subset: gard_rare {source="GARD:20899", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263410"}
subset: orphanet_rare {source="Orphanet:263410"}
subset: rare
synonym: "infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" RELATED [Orphanet:263410]
xref: GARD:20899 {source="MONDO:GARD"}
xref: MEDGEN:1675231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263410 {source="MONDO:equivalentTo"}
xref: UMLS:C5190692 {source="MONDO:equivalentTo", source="MEDGEN:1675231", source="MONDO:MEDGEN"}
is_a: MONDO:0017578 {source="Orphanet:263410"} ! disorder of thiamine metabolism and transport
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:263410", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0016982
name: angiosarcoma
def: "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." [NCIT:C3088]
subset: gard_rare {source="GARD:20900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263413"}
subset: orphanet_rare {source="Orphanet:263413"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiosarcoma" EXACT [MONDO:ambiguous, NCIT:C3088]
synonym: "angiosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "blood vessel sarcoma" EXACT []
synonym: "hemangiosarcoma" EXACT [DOID:0001816, NCIT:C3088]
synonym: "hemangiosarcoma, malignant" EXACT [NCIT:C3088]
synonym: "malignant angioendothelioma" EXACT [NCIT:C3088]
synonym: "malignant hemangioendothelioma" EXACT [NCIT:C3088]
synonym: "sarcoma of blood vessel" EXACT [MONDO:patterns/sarcoma]
synonym: "vascular sarcoma" EXACT []
xref: DOID:0001816 {source="MONDO:equivalentTo", source="EFO:0003968"}
xref: EFO:0003968 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20900 {source="MONDO:GARD"}
xref: HP:0200058 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C49.9 {source="Orphanet:263413", source="Orphanet:263413/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9120/3 {source="NCIT:C3088"}
xref: MedDRA:10002476 {source="Orphanet:263413", source="Orphanet:263413/e"}
xref: MEDGEN:42385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006394 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"}
xref: NCIT:C3088 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"}
xref: ONCOTREE:ANGS {source="MONDO:equivalentTo"}
xref: Orphanet:263413 {source="MONDO:equivalentTo"}
xref: SCTID:33176006 {source="DOID:0001816"}
xref: SCTID:39000009 {source="DOID:0001816"}
xref: SCTID:403977003 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"}
xref: UMLS:C0018923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42385"}
is_a: MONDO:0002095 {source="MESH:D006394", source="MONDO:Redundant", source="NCIT:C3088"} ! vascular cancer
is_a: MONDO:0005089 {source="DOID:0001816", source="EFO:0003967", source="EFO:0003968/inferred", source="MESH:D006394", source="MONDO:Redundant", source="NCIT:C3088"} ! sarcoma
is_a: MONDO:0018078 {source="Orphanet:263413"} ! soft tissue sarcoma
is_a: MONDO:0024296 {source="MONDO:Redundant", source="Orphanet:263413"} ! vascular neoplasm
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0001981 ! blood vessel
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare
property_value: IAO:0000589 "angiosarcoma (disease)" xsd:string

[Term]
id: MONDO:0016983
name: Bartter syndrome with hypocalcemia
def: "Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)" [Orphanet:263417]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bartter syndrome type 5" EXACT [Orphanet:263417]
synonym: "Bartter syndrome type V" EXACT [Orphanet:263417]
xref: ICD10CM:E26.8 {source="Orphanet:263417/attributed", source="Orphanet:263417/ntbt", source="Orphanet:263417"}
xref: MEDGEN:811594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263417 {source="MONDO:equivalentObsolete"}
xref: UMLS:C3715128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811594"}
is_a: MONDO:0015231 {source="Orphanet:263417"} ! Bartter syndrome

[Term]
id: MONDO:0016984
name: nevus of Ota
def: "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus." [Orphanet:263425]
subset: gard_rare {source="GARD:20901", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263425"}
subset: orphanet_rare {source="Orphanet:263425"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Nevus fusculoceruleus ophthalmomaxillaris" EXACT [Orphanet:263425]
synonym: "oculocutaneous melanocytic Nevus" EXACT [NCIT:C7583]
synonym: "oculodermal melanocytosis" EXACT [NCIT:C7583]
synonym: "Ota's Nevus" EXACT [NCIT:C7583]
xref: EFO:1000396 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20901 {source="MONDO:GARD"}
xref: ICD10CM:D22.3 {source="Orphanet:263425/ntbt", source="Orphanet:263425"}
xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10051713 {source="Orphanet:263425/e", source="Orphanet:263425"}
xref: MEDGEN:14363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009507 {source="MONDO:equivalentTo"}
xref: NCIT:C7583 {source="EFO:1000396", source="MONDO:equivalentTo"}
xref: Orphanet:263425 {source="MONDO:equivalentTo"}
xref: SCTID:414929001 {source="MONDO:equivalentTo"}
xref: UMLS:C0027961 {source="MONDO:equivalentTo", source="MEDGEN:14363", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="Orphanet:263425"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare

[Term]
id: MONDO:0016985
name: nevus of Ito
def: "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter." [Orphanet:263432]
subset: gard_rare {source="GARD:10830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263432"}
subset: orphanet_rare {source="Orphanet:263432"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypomelanosis of Ito" RELATED [NCIT:C7582]
synonym: "Ito's Nevus" EXACT [NCIT:C7582]
synonym: "nevi of Ito" EXACT [GARD:0010830]
synonym: "nevus fuscocaeruleus acromiodeltoideus" EXACT [Orphanet:263432]
xref: EFO:1000395 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10830 {source="MONDO:GARD"}
xref: ICD10CM:D22.6 {source="Orphanet:263432", source="Orphanet:263432/ntbt"}
xref: NCIT:C7582 {source="EFO:1000395", source="MONDO:equivalentTo"}
xref: Orphanet:263432 {source="MONDO:equivalentTo"}
is_a: MONDO:0005073 {source="Orphanet:263432"} ! melanocytic nevus
relationship: disease_shares_features_of MONDO:0016984 ! nevus of Ota
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare

[Term]
id: MONDO:0016986
name: congenital smooth muscle hamartoma
def: "Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported." [Orphanet:263435]
subset: gard_rare {source="GARD:20902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263435"}
subset: orphanet_rare {source="Orphanet:263435"}
subset: rare
xref: GARD:20902 {source="MONDO:GARD"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:590701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263435 {source="MONDO:equivalentTo"}
xref: SCTID:239144007 {source="MONDO:equivalentTo"}
xref: UMLS:C0406819 {source="MEDGEN:590701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="https://orcid.org/0000-0001-5208-3432"} ! hamartoma
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:263435", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0016987
name: neuroacanthocytosis
def: "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." [Orphanet:263440]
subset: disease_grouping
subset: gard_rare {source="GARD:10902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1501"}
subset: ordo_group_of_disorders {source="Orphanet:263440"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuroacanthocytosis syndrome" RELATED [GARD:0010902]
xref: DOID:0050765 {source="MONDO:equivalentTo"}
xref: GARD:10902 {source="MONDO:GARD"}
xref: MESH:D054546 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:1200013 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84926 {source="MONDO:equivalentTo"}
xref: NORD:1501 {source="MONDO:NORD"}
xref: Orphanet:263440 {source="MONDO:equivalentTo"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0015548 {source="Orphanet:263440"} ! Huntington disease-like syndrome
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:263440"} ! dementia
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0016988
name: hyperinsulinism due to HNF4A deficiency
def: "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)." [Orphanet:263455]
subset: gard_rare {source="GARD:20903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263455"}
subset: orphanet_rare {source="Orphanet:263455"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperinsulinemic hypoglycemia due to HNF4A deficiency" EXACT [Orphanet:263455]
xref: GARD:20903 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:263455", source="Orphanet:263455/attributed", source="Orphanet:263455/ntbt"}
xref: MEDGEN:894506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263455 {source="MONDO:equivalentTo"}
xref: SCTID:717048002 {source="MONDO:equivalentTo"}
xref: UMLS:C4274078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894506"}
is_a: MONDO:0015624 {source="Orphanet:263455"} ! diazoxide-sensitive diffuse hyperinsulinism

[Term]
id: MONDO:0016989
name: Fuchs heterochromic iridocyclitis
def: "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." [Orphanet:263479]
subset: gard_rare {source="GARD:6791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263479"}
subset: orphanet_rare {source="Orphanet:263479"}
subset: rare
synonym: "FHI" EXACT ABBREVIATION [Orphanet:263479]
synonym: "Fuch's heterochromic iridocyclitis" EXACT [DOID:9375]
synonym: "Fuchs heterochromic cyclitis" EXACT [GARD:0006791]
synonym: "Fuchs heterochromic uveitis" EXACT [GARD:0006791]
synonym: "Fuchs uveitis syndrome" EXACT [DOID:9375]
synonym: "Fuchs' heterochromic cyclitis" EXACT [DOID:9375, ICD9CM:364.21]
synonym: "Fuchs' heterochromic uveitis" EXACT [MONDO:0004771]
xref: DOID:9375 {source="MONDO:equivalentTo"}
xref: GARD:6791 {source="MONDO:GARD"}
xref: ICD10CM:H20.8 {source="Orphanet:263479", source="Orphanet:263479/ntbt"}
xref: ICD10CM:H20.81 {source="DOID:9375"}
xref: ICD9:364.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9375"}
xref: MedDRA:10017406 {source="Orphanet:263479", source="Orphanet:263479/e"}
xref: MEDGEN:507742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263479 {source="MONDO:equivalentTo"}
xref: SCTID:11226001 {source="MONDO:equivalentTo", source="DOID:9375"}
xref: UMLS:C0016782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507742"}
is_a: MONDO:0002254 {source="DOID:9375"} ! syndromic disease
is_a: MONDO:0017634 {source="Orphanet:263479"} ! non-infectious anterior uveitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4223" xsd:anyURI

[Term]
id: MONDO:0016990
name: acquired prothrombin deficiency
def: "An instance of prothrombin deficiency that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="GARD:475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:26348"}
subset: orphanet_rare {source="Orphanet:26348"}
subset: rare
synonym: "acquired factor II deficiency" RELATED [GARD:0000475]
synonym: "acquired hypoprothrombinemia" EXACT [Orphanet:26348]
synonym: "acquired prothrombin deficiency" EXACT [MONDO:patterns/acquired]
synonym: "hypoprothrombinemia, acquired" RELATED [GARD:0000475]
xref: GARD:475 {source="MONDO:GARD"}
xref: ICD10CM:D68.4 {source="Orphanet:26348/ntbt", source="Orphanet:26348"}
xref: MEDGEN:140275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538174 {source="MONDO:equivalentTo"}
xref: NCIT:C131622 {source="MONDO:equivalentTo"}
xref: Orphanet:26348 {source="MONDO:equivalentTo"}
xref: SCTID:4152002 {source="MONDO:equivalentTo"}
xref: UMLS:C0392610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140275"}
is_a: MONDO:0002243 {source="MONDO:0015662-obsoleted"} ! hemorrhagic disease
intersection_of: MONDO:0024307 ! prothrombin deficiency
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0013361 {source="MESH:C538174", source="https://orcid.org/0000-0001-5208-3432"} ! congenital prothrombin deficiency

[Term]
id: MONDO:0016991
name: acute necrotizing encephalopathy of childhood
def: "Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases." [Orphanet:263524]
subset: gard_rare {source="GARD:17257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263524"}
subset: orphanet_rare {source="Orphanet:263524"}
subset: rare
synonym: "ANEC" EXACT ABBREVIATION [Orphanet:263524]
synonym: "isolated acute necrotizing encephalopathy" EXACT [Orphanet:263524]
synonym: "isolated ANE" EXACT [Orphanet:263524]
xref: GARD:17257 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:263524/ntbt", source="Orphanet:263524"}
xref: MEDGEN:1641610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263524 {source="MONDO:equivalentTo"}
xref: SCTID:763310000 {source="MONDO:equivalentTo"}
xref: UMLS:C4706387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641610"}
is_a: MONDO:0020067 {source="Orphanet:263524"} ! infectious encephalitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0016992
name: obsolete peeling skin syndrome type B
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2705" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024548

[Term]
id: MONDO:0016993
name: generalized peeling skin syndrome type C
subset: gard_rare {source="GARD:20904", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "generalised deciduous skin type C" EXACT OMO:0003005 []
synonym: "generalized deciduous skin type C" EXACT [Orphanet:263558]
synonym: "peeling skin syndrome type C" RELATED [Orphanet:263558]
xref: GARD:20904 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:263558", source="Orphanet:263558/attributed", source="Orphanet:263558/ntbt"}
xref: Orphanet:263558 {source="MONDO:equivalentTo"}
is_a: MONDO:0010033 {source="Orphanet:263558"} ! generalized peeling skin syndrome

[Term]
id: MONDO:0016994
name: microcephalic osteodysplastic primordial dwarfism types I and III
def: "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." [Orphanet:2636]
subset: gard_rare {source="GARD:5120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2636"}
subset: ordo_malformation_syndrome {source="Orphanet:2636"}
subset: orphanet_rare {source="Orphanet:2636"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachymelic primordial dwarfism" RELATED [GARD:0005120]
synonym: "cephaloskeletal dysplasia" RELATED [GARD:0005120]
synonym: "low-birth-weight dwarfism with skeletal dysplasia" RELATED [GARD:0005120]
synonym: "microcephalic osteodysplastic primordial dwarfism type 1" RELATED [GARD:0005120]
synonym: "microcephalic osteodysplastic primordial dwarfism types 1 and 3" RELATED [GARD:0005120]
synonym: "microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type" EXACT [Orphanet:2636]
synonym: "MOPD 1" RELATED [GARD:0005120]
synonym: "MOPD types I and III" EXACT [Orphanet:2636]
synonym: "osteodysplastic primordial dwarfism type I" RELATED [GARD:0005120]
synonym: "primordial microcephalic dwarfism, Crachami type" EXACT [GARD:0005120, Orphanet:2636]
synonym: "Taybi-Linder syndrome" NARROW [Orphanet:2636]
xref: GARD:5120 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2636", source="Orphanet:2636/attributed", source="Orphanet:2636/ntbt"}
xref: MEDGEN:1380769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2636 {source="MONDO:equivalentTo", source="GARD:0005120"}
xref: SCTID:725461009 {source="MONDO:equivalentTo"}
xref: UMLS:C4319565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1380769"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0018230 {source="PMID:26323792", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0800063 {source="PMID:26323792", source="https://orcid.org/0009-0001-6494-4831"} ! primordial dwarfism and slender bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1" xsd:anyURI {source="GARD:0005120"}

[Term]
id: MONDO:0016995
name: familial multiple meningioma
def: "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic." [Orphanet:263662]
subset: gard_rare {source="GARD:17260", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263662"}
subset: orphanet_rare {source="Orphanet:263662"}
subset: rare
xref: GARD:17260 {source="MONDO:GARD"}
xref: ICD10CM:D32.9 {source="Orphanet:263662/ntbt", source="Orphanet:263662"}
xref: MEDGEN:1644853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263662 {source="MONDO:equivalentTo"}
xref: UMLS:C4707361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644853"}
is_a: MONDO:0016743 {source="Orphanet:263662"} ! tumor of meninges

[Term]
id: MONDO:0016996
name: NK-cell enteropathy
def: "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." [Orphanet:263665]
comment: Editor note: TODO - complete axioms
subset: gard_rare {source="GARD:20905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:263665"}
subset: orphanet_rare {source="Orphanet:263665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20905 {source="MONDO:GARD"}
xref: ICD10CM:K63.8 {source="Orphanet:263665", source="Orphanet:263665/ntbt"}
xref: MEDGEN:1379183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263665 {source="MONDO:equivalentTo"}
xref: SCTID:723496007 {source="MONDO:equivalentTo"}
xref: UMLS:C4509932 {source="MEDGEN:1379183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019997"} ! rare

[Term]
id: MONDO:0016997
name: obsolete hereditary epidermolysis bullosa associated with ocular features
comment: Obsolete in Orphanet
subset: disease_grouping
xref: Orphanet:263676 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0019276

[Term]
id: MONDO:0016998
name: obsolete complex chromosomal rearrangement
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263708"}
xref: GARD:20906 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:263708 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0016999
name: obsolete X chromosome number anomaly
comment: Reason: grouping class. Term to consider: MONDO:0700064
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263714"}
xref: GARD:20907 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:263714 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0700064

[Term]
id: MONDO:0017000
name: obsolete X chromosome number anomaly with female phenotype
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263717"}
xref: GARD:20908 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:263717 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0017001
name: obsolete X chromosome number anomaly with male phenotype
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263720"}
xref: GARD:20909 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:263720 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0017002
name: obsolete polysomy of X chromosome
comment: Reason: grouping class. Term to consider: MONDO:0700064
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263723"}
xref: GARD:20910 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:263723 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0700064

[Term]
id: MONDO:0017003
name: partial deletion of chromosome X
subset: disease_grouping
subset: gard_rare {source="GARD:20911", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:263726"}
subset: rare
synonym: "partial deletion of chromosome type X" EXACT [MONDORULE:1, Orphanet:263726]
synonym: "partial monosomy of chromosome X" EXACT [Orphanet:263726]
xref: GARD:20911 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:263726/attributed", source="Orphanet:263726/ntbt", source="Orphanet:263726"}
xref: MEDGEN:1826030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263726 {source="MONDO:equivalentTo"}
xref: UMLS:C5679690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826030"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017004
name: partial monosomy of the short arm of chromosome X
subset: disease_grouping
subset: gard_rare {source="GARD:20912", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:263731"}
subset: rare
synonym: "partial deletion of chromosome Xp" EXACT [Orphanet:263731]
synonym: "partial deletion of the short arm of chromosome X" EXACT [Orphanet:263731]
synonym: "partial monosomy of chromosome Xp" EXACT [Orphanet:263731]
synonym: "partial monosomy of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263731]
xref: GARD:20912 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:263731", source="Orphanet:263731/attributed", source="Orphanet:263731/ntbt"}
xref: MEDGEN:1826029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263731 {source="MONDO:equivalentTo"}
xref: UMLS:C5679689 {source="MEDGEN:1826029", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017003 {source="Orphanet:263731"} ! partial deletion of chromosome X
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chrXp ! Xp (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017005
name: obsolete Y chromosome number anomaly
comment: Reason: grouping class. Term to consider: MONDO:0700064
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263746"}
xref: GARD:20913 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1632180154 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:263746"}
xref: Orphanet:263746 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0700064

[Term]
id: MONDO:0017006
name: obsolete X and Y chromosomal anomaly
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263749"}
xref: GARD:20914 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q98.8 {source="Orphanet:263749/attributed", source="Orphanet:263749/ntbt", source="Orphanet:263749"}
xref: Orphanet:263749 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017007
name: partial deletion of the long arm of chromosome X
subset: disease_grouping
subset: gard_rare {source="GARD:20915", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:263756"}
subset: rare
synonym: "partial deletion of chromosome Xq" EXACT [Orphanet:263756]
synonym: "partial deletion of the long arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263756]
synonym: "partial monosomy of chromosome Xq" EXACT [Orphanet:263756]
synonym: "partial monosomy of the long arm of chromosome X" EXACT [Orphanet:263756]
xref: GARD:20915 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:263756", source="Orphanet:263756/attributed", source="Orphanet:263756/ntbt"}
xref: MEDGEN:1826028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263756 {source="MONDO:equivalentTo"}
xref: UMLS:C5679688 {source="MEDGEN:1826028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017003 {source="Orphanet:263756"} ! partial deletion of chromosome X
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chrXq ! Xq (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017008
name: partial duplication of chromosome X
subset: disease_grouping
subset: gard_rare {source="GARD:20916", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:263768"}
subset: rare
synonym: "partial duplication of chromosome type X" EXACT [MONDORULE:1, Orphanet:263768]
synonym: "partial trisomy of chromosome X" EXACT [Orphanet:263768]
xref: GARD:20916 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:263768/attributed", source="Orphanet:263768/ntbt", source="Orphanet:263768"}
xref: MEDGEN:1825971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263768 {source="MONDO:equivalentTo"}
xref: UMLS:C5679687 {source="MEDGEN:1825971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017009
name: partial duplication of the short arm of chromosome X
subset: disease_grouping
subset: gard_rare {source="GARD:12421", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:263775"}
subset: rare
synonym: "partial duplication of chromosome Xp" EXACT [Orphanet:263775]
synonym: "partial duplication of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263775]
synonym: "partial trisomy of chromosome Xp" EXACT [GARD:0012421, Orphanet:263775]
synonym: "partial trisomy of the short arm of chromosome X" EXACT [Orphanet:263775]
xref: GARD:12421 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:263775", source="Orphanet:263775/attributed", source="Orphanet:263775/ntbt"}
xref: MEDGEN:1826027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:263775 {source="MONDO:equivalentTo"}
xref: UMLS:C5679686 {source="MEDGEN:1826027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017008 {source="Orphanet:263775"} ! partial duplication of chromosome X
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chrXp ! Xp (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017010
name: partial duplication of the long arm of chromosome X
def: "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person." [GARD:0005369]
subset: disease_grouping
subset: gard_rare {source="GARD:5369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:263783"}
subset: rare
synonym: "chromosome Xq duplication" RELATED [GARD:0005369]
synonym: "Duplication Xq" RELATED [GARD:0005369]
synonym: "partial duplication of chromosome Xq" EXACT [Orphanet:263783]
synonym: "partial duplication of the long arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263783]
synonym: "partial trisomy of chromosome Xq" EXACT [Orphanet:263783]
synonym: "partial trisomy of the long arm of chromosome X" EXACT [Orphanet:263783]
synonym: "partial trisomy Xq" RELATED [GARD:0005369]
synonym: "trisomy Xq" RELATED [GARD:0005369]
synonym: "Xq duplication" RELATED [GARD:0005369]
synonym: "Xq trisomy" RELATED [GARD:0005369]
xref: GARD:5369 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:263783/attributed", source="Orphanet:263783/ntbt", source="Orphanet:263783"}
xref: MEDGEN:162887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536732 {source="MONDO:equivalentTo"}
xref: Orphanet:263783 {source="MONDO:equivalentTo"}
xref: UMLS:C0795891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162887"}
is_a: MONDO:0017008 {source="Orphanet:262914", source="Orphanet:263783"} ! partial duplication of chromosome X
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chrXq ! Xq (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017011
name: obsolete uniparental disomy of chromosome X
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263793"}
synonym: "uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:263793]
synonym: "UPD(X)" EXACT [Orphanet:263793]
xref: GARD:20918 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q99.8 {source="Orphanet:263793/attributed", source="Orphanet:263793/ntbt", source="Orphanet:263793"}
xref: Orphanet:263793 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017012
name: partial duplication of the short arm of chromosome 1
subset: disease_grouping
subset: gard_rare {source="GARD:20919", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:264431"}
subset: rare
synonym: "partial duplication of chromosome 1p" EXACT [Orphanet:264431]
synonym: "partial duplication of the short arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:264431]
synonym: "partial trisomy of chromosome 1p" EXACT [Orphanet:264431]
xref: GARD:20919 {source="MONDO:GARD"}
xref: icd11.foundation:774713494 {source="Orphanet:264431", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:264431 {source="MONDO:equivalentTo"}
xref: UMLS:C5679751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826050"}
is_a: MONDO:0016921 {source="Orphanet:264431"} ! partial duplication of chromosome 1
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr1p ! 1p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017013
name: trisomy 8p
def: "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." [Orphanet:264450]
subset: gard_rare {source="GARD:20920", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:264450"}
subset: ordo_malformation_syndrome {source="Orphanet:264450"}
subset: orphanet_rare {source="Orphanet:264450"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Duplication 8p" EXACT [Orphanet:264450]
synonym: "trisomy type 8p" EXACT [MONDORULE:4, Orphanet:264450]
xref: GARD:20920 {source="MONDO:GARD"}
xref: ICD10CM:Q92.2 {source="Orphanet:264450", source="Orphanet:264450/attributed", source="Orphanet:264450/ntbt"}
xref: MEDGEN:167072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538019 {source="MONDO:equivalentTo"}
xref: Orphanet:264450 {source="MONDO:equivalentTo"}
xref: UMLS:C0795825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167072"}
is_a: MONDO:0016945 {source="Orphanet:264450"} ! partial duplication of the short arm of chromosome 8

[Term]
id: MONDO:0017014
name: interstitial lung disease specific to childhood
def: "A interstitial lung disease that occurs during childhood." [MONDO:design_pattern]
comment: The terms chILD or chILD syndrome (not preferred) have been coined to memorize easily and to identify a phenotype that requires prompt and expert evaluation.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:264656"}
subset: otar {source="MONDO:OTAR"}
synonym: "chILD" EXACT [PMID:23905526]
synonym: "chILD syndrome" EXACT [PMID:23905526]
synonym: "childhood interstitial lung disease" EXACT []
synonym: "ILD specific to childhood" EXACT [Orphanet:264656]
synonym: "interstitial lung disease of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric interstitial lung disease" EXACT OMO:0003005 []
synonym: "pediatric interstitial lung disease" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: MEDGEN:1842412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:264656 {source="MONDO:equivalentTo"}
xref: SCTID:328661000119108 {source="MONDO:equivalentTo"}
xref: UMLS:C5679752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842412"}
is_a: MONDO:0015925 {source="MONDO:Redundant", source="Orphanet:264656"} ! interstitial lung disease
intersection_of: MONDO:0015925 ! interstitial lung disease
intersection_of: has_characteristic HP:0011463 ! Childhood onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4389" xsd:anyURI

[Term]
id: MONDO:0017015
name: primary interstitial lung disease specific to childhood
subset: disease_grouping
subset: gard_rare {source="GARD:10559", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:264665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "child" RELATED [GARD:0010559]
synonym: "children's interstitial lung disease" RELATED [GARD:0010559]
synonym: "primary ILD specific to childhood" EXACT [GARD:0010559, Orphanet:264665]
synonym: "primary interstitial lung disease specific to childhood" EXACT [GARD:0010559]
xref: GARD:10559 {source="MONDO:GARD"}
xref: icd11.foundation:1408868257 {source="MONDO:equivalentTo", source="Orphanet:264665", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:853969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:264665 {source="MONDO:equivalentTo", source="GARD:0010559"}
xref: UMLS:C3161253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:853969"}
is_a: MONDO:0017014 {source="Orphanet:264665", source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease specific to childhood
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease" xsd:anyURI {source="GARD:0010559"}

[Term]
id: MONDO:0017016
name: obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264670"}
synonym: "primary ILD specific to childhood due to alveolar structure disorder" EXACT [Orphanet:264670]
xref: GARD:20922 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264670 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017017
name: obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264683"}
synonym: "primary ILD specific to childhood due to alveolar vascular disorder" EXACT [Orphanet:264683]
xref: GARD:20923 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264683 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017018
name: isolated pulmonary capillaritis
def: "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative." [Orphanet:264691]
subset: gard_rare {source="GARD:20924", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:264691"}
subset: orphanet_rare {source="Orphanet:264691"}
subset: rare
xref: GARD:20924 {source="MONDO:GARD"}
xref: icd11.foundation:1610022220 {source="Orphanet:264691", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:842738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:264691 {source="MONDO:equivalentTo"}
xref: SCTID:707436001 {source="MONDO:equivalentTo"}
xref: UMLS:C3873357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:842738"}
is_a: MONDO:0015925 {source="Orphanet:264691"} ! interstitial lung disease

[Term]
id: MONDO:0017019
name: interstitial lung disease specific to infancy
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:264694"}
subset: rare
synonym: "ILD specific to infancy" EXACT [Orphanet:264694]
xref: MEDGEN:1842984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:264694 {source="MONDO:equivalentTo"}
xref: UMLS:C5679737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842984"}
is_a: MONDO:0017015 {source="Orphanet:264694"} ! primary interstitial lung disease specific to childhood

[Term]
id: MONDO:0017020
name: obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264699"}
synonym: "secondary ILD specific to childhood associated with a systemic disease" EXACT [Orphanet:264699]
xref: GARD:20926 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264699 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017021
name: obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264704"}
synonym: "secondary ILD specific to childhood associated with a connective tissue disease" EXACT [Orphanet:264704]
xref: GARD:20927 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264704 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017022
name: obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264709"}
synonym: "secondary ILD specific to childhood associated with a systemic vasculitis" EXACT [Orphanet:264709]
xref: GARD:20928 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264709 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017023
name: obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264714"}
synonym: "secondary ILD specific to childhood associated with a granulomatous disease" EXACT [Orphanet:264714]
xref: GARD:20929 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264714 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017024
name: obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264719"}
synonym: "secondary ILD specific to childhood associated with a metabolic disease" EXACT [Orphanet:264719]
xref: GARD:20930 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264719 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017025
name: Langerhans cell histiocytosis specific to childhood
def: "Langerhans cell histiocytosis that occurs during childhood." [NCIT:C114483]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood Langerhans cell histiocytosis" EXACT [NCIT:C114483]
synonym: "histiocytosis X specific to childhood" EXACT [Orphanet:264724]
synonym: "Langerhans cell granulomatosis specific to childhood" EXACT [Orphanet:264724]
synonym: "Langerhans cell histiocytosis" BROAD [NCIT:C114483]
xref: MEDGEN:859249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C114483 {source="MONDO:equivalentTo"}
xref: Orphanet:264724 {source="MONDO:equivalentObsolete"}
xref: UMLS:C3899655 {source="MEDGEN:859249", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018310 {source="NCIT:C114483"} ! Langerhans cell histiocytosis

[Term]
id: MONDO:0017026
name: interstitial lung disease specific to adulthood
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:264735"}
synonym: "ILD specific to adulthood" EXACT [Orphanet:264735]
xref: MEDGEN:1842399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:264735 {source="MONDO:equivalentTo"}
xref: UMLS:C5679743 {source="MEDGEN:1842399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015925 {source="Orphanet:264735", source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease

[Term]
id: MONDO:0017027
name: obsolete primary interstitial lung disease specific to adulthood
subset: ordo_group_of_disorders {source="Orphanet:264740"}
synonym: "primary ILD specific to adulthood" EXACT [Orphanet:264740]
xref: GARD:20932 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264740 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017028
name: obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264745"}
synonym: "secondary ILD specific to adulthood associated with a systemic disease" EXACT [Orphanet:264745]
xref: GARD:20933 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264745 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017029
name: Langerhans cell histiocytosis specific to adulthood
def: "Langerhans cell histiocytosis that occurs during adulthood." [NCIT:C114929]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult Langerhans cell histiocytosis" EXACT [NCIT:C114929]
synonym: "histiocytosis X specific to adulthood" EXACT [Orphanet:264750]
synonym: "Langerhans cell granulomatosis specific to adulthood" EXACT [Orphanet:264750]
synonym: "Langerhans cell histiocytosis" BROAD [NCIT:C114929]
xref: MEDGEN:859694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C114929 {source="MONDO:equivalentTo"}
xref: Orphanet:264750 {source="MONDO:equivalentObsolete"}
xref: UMLS:C3900100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:859694"}
is_a: MONDO:0017026 ! interstitial lung disease specific to adulthood
is_a: MONDO:0018310 {source="NCIT:C114929"} ! Langerhans cell histiocytosis

[Term]
id: MONDO:0017030
name: obsolete interstitial lung disease in childhood and adulthood
subset: ordo_group_of_disorders {source="Orphanet:264757"}
synonym: "ILD in childhood and adulthood" EXACT [Orphanet:264757]
xref: GARD:20934 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264757 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017031
name: obsolete primary interstitial lung disease in childhood and adulthood
subset: ordo_group_of_disorders {source="Orphanet:264762"}
synonym: "primary ILD in childhood and adulthood" EXACT [Orphanet:264762]
xref: GARD:20935 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264762 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017032
name: obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264930"}
synonym: "primary ILD in childhood and adulthood due to alveolar structure disorder" EXACT [Orphanet:264930]
xref: GARD:20936 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264930 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017033
name: obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264935"}
synonym: "primary ILD in childhood and adulthood due to alveolar vascular disorder" EXACT [Orphanet:264935]
xref: GARD:20937 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264935 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017034
name: obsolete secondary interstitial lung disease in childhood and adulthood
subset: ordo_group_of_disorders {source="Orphanet:264944"}
synonym: "secondary ILD in childhood and adulthood" EXACT [Orphanet:264944]
xref: GARD:20938 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264944 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017035
name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264949"}
synonym: "secondary ILD in childhood and adulthood associated with a systemic disease" EXACT [Orphanet:264949]
xref: GARD:20939 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264949 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017036
name: obsolete Langerhans cell histiocytosis in childhood and adulthood
synonym: "histiocytosis X in childhood and adulthood" EXACT [Orphanet:264955]
synonym: "Langerhans cell granulomatosis in childhood and adulthood" EXACT [Orphanet:264955]
xref: Orphanet:264955 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017037
name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264968"}
synonym: "secondary ILD in childhood and adulthood associated with a metabolic disease" EXACT [Orphanet:264968]
xref: GARD:20940 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264968 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017038
name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease'
subset: ordo_group_of_disorders {source="Orphanet:264973"}
synonym: "secondary ILD in childhood and adulthood associated with a systemic vasculitis" EXACT [Orphanet:264973]
xref: GARD:20941 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264973 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015925

[Term]
id: MONDO:0017039
name: drug or radiation exposure-related interstitial lung disease
subset: gard_rare {source="GARD:20942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:264978"}
subset: ordo_disorder {source="Orphanet:264978"}
subset: orphanet_rare {source="Orphanet:264978"}
subset: rare
xref: GARD:20942 {source="MONDO:GARD"}
xref: ICD10CM:J70.0 {source="Orphanet:264978/btnt", source="Orphanet:264978"}
xref: ICD10CM:J70.1 {source="Orphanet:264978/btnt", source="Orphanet:264978"}
xref: ICD10CM:J70.2 {source="Orphanet:264978/btnt", source="Orphanet:264978"}
xref: ICD10CM:J70.3 {source="Orphanet:264978/btnt", source="Orphanet:264978"}
xref: ICD10CM:J70.4 {source="Orphanet:264978/btnt", source="Orphanet:264978"}
xref: MEDGEN:1843006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:264978 {source="MONDO:equivalentTo"}
xref: UMLS:C5680746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843006"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163"} ! respiratory system disorder
is_a: MONDO:0015925 {source="https://orcid.org/0000-0002-3458-4839"} ! interstitial lung disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0017040
name: obsolete exposure-related interstitial lung disease
subset: ordo_group_of_disorders {source="Orphanet:264984"}
xref: GARD:20943 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264984 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017041
name: osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
def: "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." [Orphanet:2653]
subset: gard_rare {source="GARD:18776", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:2653"}
subset: rare
synonym: "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" EXACT [Orphanet:2653]
xref: GARD:18776 {source="MONDO:GARD"}
xref: MEDGEN:928494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2653 {source="MONDO:equivalentTo"}
xref: SCTID:722108000 {source="MONDO:equivalentTo"}
xref: UMLS:C4302825 {source="MEDGEN:928494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0017042
name: thanatophoric dysplasia
def: "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." [Orphanet:2655]
subset: gard_rare {source="GARD:85", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2655"}
subset: orphanet_rare {source="Orphanet:2655"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dwarfism thanatophoric" RELATED [GARD:0000085]
synonym: "Td" EXACT [Orphanet:2655]
synonym: "thanatophoric dwarfism" EXACT [Orphanet:2655]
xref: DOID:13481 {source="MONDO:equivalentTo"}
xref: GARD:85 {source="MONDO:GARD"}
xref: ICD10CM:Q77.1 {source="DOID:13481", source="Orphanet:2655", source="Orphanet:2655/specific", source="Orphanet:2655/e"}
xref: icd11.foundation:1668919215 {source="MONDO:equivalentTo", source="Orphanet:2655"}
xref: ICD9:259.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049808 {source="Orphanet:2655", source="Orphanet:2655/e"}
xref: MEDGEN:21124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013796 {source="MONDO:equivalentTo", source="DOID:13481"}
xref: NANDO:1200874 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85187 {source="MONDO:equivalentTo", source="DOID:13481"}
xref: Orphanet:1860 {source="DOID:13481"}
xref: Orphanet:2655 {source="MONDO:equivalentTo", source="DOID:13481", source="GARD:0000085"}
xref: Orphanet:93274 {source="DOID:13481"}
xref: Orphanet:93275 {source="DOID:13481"}
xref: SCTID:29352008 {source="MONDO:equivalentTo", source="DOID:13481"}
xref: UMLS:C0039743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21124"}
is_a: MONDO:0005516 {source="DOID:13481", source="MESH:D013796/inferred"} ! osteochondrodysplasia
is_a: MONDO:0019685 {source="Orphanet:2655"} ! FGFR3-related chondrodysplasia
relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:2655", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with micromelia

[Term]
id: MONDO:0017043
name: congenital mesoblastic nephroma
def: "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis." [NCIT:C6569]
subset: gard_rare {source="GARD:1493", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2665"}
subset: orphanet_rare {source="Orphanet:2665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMn" EXACT [NCIT:C6569]
synonym: "congenital mesoblastic nephroma" EXACT [NCIT:C6569]
synonym: "mesoblastic nephroma" BROAD [NCIT:C6569]
synonym: "stromal nephroma, malignant" EXACT [NCIT:C6569]
xref: DOID:4773 {source="MONDO:equivalentTo"}
xref: GARD:1493 {source="MONDO:GARD"}
xref: ICD10CM:D41.0 {source="Orphanet:2665/ntbt", source="Orphanet:2665"}
xref: ICDO:8960/1 {source="NCIT:C6569"}
xref: MedDRA:10070665 {source="Orphanet:2665", source="Orphanet:2665/e"}
xref: MEDGEN:232058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018201 {source="DOID:4773", source="Orphanet:2665", source="Orphanet:2665/e"}
xref: NCIT:C6569 {source="DOID:4773", source="MONDO:equivalentTo"}
xref: Orphanet:2665 {source="MONDO:equivalentTo"}
xref: SCTID:307604008 {source="GARD:0001493"}
xref: UMLS:C1332965 {source="MEDGEN:232058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002730 {source="DOID:4773", source="NCIT:C6569/inferred"} ! childhood kidney neoplasm
is_a: MONDO:0003130 {source="DOID:4773"} ! mesoblastic nephroma
is_a: MONDO:0005564 {source="NCIT:C6569"} ! embryonal neoplasm
is_a: MONDO:0021163 {source="Orphanet:2665"} ! kidney neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma" xsd:anyURI {source="GARD:0001493"}

[Term]
id: MONDO:0017044
name: adult familial nephronophthisis-spastic quadriparesia syndrome
def: "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients." [Orphanet:2666]
subset: gard_rare {source="GARD:18777", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2666"}
subset: orphanet_rare {source="Orphanet:2666"}
subset: rare
xref: GARD:18777 {source="MONDO:GARD"}
xref: MEDGEN:1385988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2666 {source="MONDO:equivalentTo"}
xref: UMLS:C4518090 {source="MEDGEN:1385988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019741 {source="Orphanet:2666"} ! familial cystic renal disease

[Term]
id: MONDO:0017045
name: neuroectodermal-endocrine syndrome
def: "Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar." [Orphanet:2676]
subset: gard_rare {source="GARD:3959", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:2676"}
subset: rare
synonym: "neuroectodermal endocrine syndrome" RELATED [GARD:0003959]
synonym: "Oerter-Friedman-Anderson syndrome" EXACT [Orphanet:2676]
xref: GARD:3959 {source="MONDO:GARD"}
xref: ICD10CM:E31.8 {source="Orphanet:2676/attributed", source="Orphanet:2676/ntbt", source="Orphanet:2676"}
xref: Orphanet:2676 {source="MONDO:equivalentObsolete"}
xref: SCTID:724090001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:2676", source="Orphanet:2676/inferred"} ! endocrine system disorder
is_a: MONDO:0015126 {source="Orphanet:2676"} ! polyendocrinopathy
is_a: MONDO:0015159 {source="Orphanet:2676"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2676", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015513", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome" xsd:anyURI {source="GARD:0003959"}

[Term]
id: MONDO:0017046
name: neuroepithelioma
def: "Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation." [Orphanet:2677]
comment: Editor note: see also MONDO:0005462 and MONDO:0021193
subset: gard_rare {source="GARD:3963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:3963 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:2677", source="Orphanet:2677/ntbt"}
xref: MESH:D018241 {source="Orphanet:2677", source="Orphanet:2677/e"}
xref: Orphanet:2677 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0021193 {source="https://orcid.org/0000-0002-4142-7153"} ! neuroepithelial neoplasm
is_a: MONDO:0021248 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system neoplasm
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma" xsd:anyURI {source="GARD:0003963"}

[Term]
id: MONDO:0017047
name: infantile axonal neuropathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2996", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:2996 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:2679", source="Orphanet:2679/attributed", source="Orphanet:2679/ntbt"}
xref: Orphanet:2679 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0004183 {source="https://orcid.org/0000-0001-5208-3432"} ! axonal neuropathy
is_a: MONDO:0020127 {source="Orphanet:2679"} ! hereditary peripheral neuropathy
relationship: has_characteristic HP:0003593 ! Infantile onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2996/infantile-axonal-neuropathy" xsd:anyURI {source="GARD:0002996"}

[Term]
id: MONDO:0017048
name: pseudomyxoma peritonei
def: "Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis." [Orphanet:26790]
subset: gard_rare {source="GARD:7488", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1628", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:26790"}
subset: orphanet_rare {source="Orphanet:26790"}
subset: rare
synonym: "Adenomucinosis" EXACT [Orphanet:26790]
synonym: "gelatinous ascites" EXACT [NCIT:C3345, Orphanet:26790]
synonym: "mucinous ascites" EXACT [DOID:3559, NCIT:C3345]
synonym: "Myxoma peritonei" EXACT [NCIT:C3345]
synonym: "peritoneal cavity pseudomyxoma peritonei" EXACT [NCIT:C3345]
synonym: "PMP" EXACT ABBREVIATION [Orphanet:26790]
synonym: "pseudomyxoma peritonei" EXACT [NCIT:C3345]
synonym: "pseudomyxoma peritonei (morphologic abnormality)" EXACT [DOID:3559]
synonym: "syndrome of pseudomyxoma peritonei" RELATED [GARD:0007488]
synonym: "well differentiated peritoneal mucinous adenocarcinoma" EXACT [NCIT:C3345]
xref: DOID:3559 {source="MONDO:equivalentTo"}
xref: GARD:7488 {source="MONDO:GARD"}
xref: ICD10CM:C78.6 {source="Orphanet:26790", source="DOID:3559", source="Orphanet:26790/ntbt"}
xref: ICDO:8480/6 {source="NCIT:C3345"}
xref: MedDRA:10037138 {source="Orphanet:26790", source="Orphanet:26790/e"}
xref: MEDGEN:18726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011553 {source="MONDO:equivalentTo", source="Orphanet:26790", source="DOID:3559", source="Orphanet:26790/e"}
xref: NCIT:C3345 {source="MONDO:equivalentTo", source="DOID:3559", source="MONDO:exact-label-match"}
xref: NORD:1628 {source="MONDO:NORD"}
xref: Orphanet:26790 {source="MONDO:equivalentTo"}
xref: SCTID:112679004 {source="DOID:3559"}
xref: SCTID:307601000 {source="MONDO:equivalentTo", source="DOID:3559"}
xref: UMLS:C0033822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18726"}
is_a: MONDO:0001235 {source="DOID:3559", source="MONDO:Redundant"} ! appendix cancer
is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C3345"} ! mucinous adenocarcinoma

[Term]
id: MONDO:0017049
name: obsolete hypomyelination neuropathy-arthrogryposis syndrome
def: "OBSOLETE. Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons." [Orphanet:2680]
subset: ordo_disorder {source="Orphanet:2680"}
subset: otar {source="MONDO:OTAR"}
synonym: "Boylan-dew syndrome" EXACT [Orphanet:2680]
xref: GARD:16604 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:2680 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017050
name: intraocular medulloepithelioma
def: "Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disk, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations." [Orphanet:268139]
subset: gard_rare {source="GARD:20945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268139"}
subset: orphanet_rare {source="Orphanet:268139"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intraocular medulloepithelioma" EXACT [NCIT:C66806]
synonym: "orbital medulloepithelioma" EXACT [Orphanet:268139]
xref: GARD:20945 {source="MONDO:GARD"}
xref: MEDGEN:408140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C66806 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:268139 {source="MONDO:equivalentTo"}
xref: UMLS:C1883694 {source="MONDO:equivalentTo", source="MEDGEN:408140", source="MONDO:MEDGEN"}
is_a: MONDO:0005564 {source="NCIT:C66806"} ! embryonal neoplasm
is_a: MONDO:0021220 {source="Orphanet:268139"} ! eye neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare

[Term]
id: MONDO:0017051
name: classic maple syrup urine disease
def: "Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." [Orphanet:268145]
subset: gard_rare {source="GARD:17263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic BCKD deficiency" EXACT [Orphanet:268145]
synonym: "classic branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268145]
synonym: "classic branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268145]
synonym: "classic branched-chain ketoaciduria" EXACT [Orphanet:268145]
synonym: "classic maple syrup urine disease" EXACT CLINGEN_LABEL []
synonym: "classic MSUD" EXACT [Orphanet:268145]
xref: GARD:17263 {source="MONDO:GARD"}
xref: ICD10CM:E71.0 {source="Orphanet:268145", source="Orphanet:268145/attributed", source="Orphanet:268145/ntbt"}
xref: MEDGEN:78689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201078 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:268145 {source="MONDO:equivalentTo"}
xref: UMLS:C0268568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78689"}
is_a: MONDO:0009563 {source="Orphanet:268145", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease
is_a: MONDO:0019242 {source="PMID:33340416"} ! inborn disorder of branched-chain amino acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017052
name: intermediate maple syrup urine disease
def: "Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation." [Orphanet:268162]
subset: gard_rare {source="GARD:17264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268162"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Intermediate BCKD deficiency" EXACT [Orphanet:268162]
synonym: "Intermediate branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162]
synonym: "Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162]
synonym: "intermediate maple syrup urine disease" EXACT CLINGEN_LABEL []
synonym: "Intermediate MSUD" EXACT [Orphanet:268162]
xref: GARD:17264 {source="MONDO:GARD"}
xref: ICD10CM:E71.0 {source="Orphanet:268162", source="Orphanet:268162/attributed", source="Orphanet:268162/ntbt"}
xref: MEDGEN:301223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201079 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:268162 {source="MONDO:equivalentTo"}
xref: SCTID:405287008 {source="MONDO:equivalentTo"}
xref: UMLS:C1621920 {source="MEDGEN:301223", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009563 {source="Orphanet:268162"} ! maple syrup urine disease
is_a: MONDO:0019242 {source="PMID:33340416"} ! inborn disorder of branched-chain amino acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017053
name: intermittent maple syrup urine disease
def: "Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." [Orphanet:268173]
subset: gard_rare {source="GARD:17265", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268173"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intermittent BCKD deficiency" EXACT [Orphanet:268173]
synonym: "intermittent branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173]
synonym: "intermittent branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173]
synonym: "intermittent maple syrup urine disease" EXACT CLINGEN_LABEL []
synonym: "intermittent MSUD" EXACT [Orphanet:268173]
xref: GARD:17265 {source="MONDO:GARD"}
xref: ICD10CM:E71.0 {source="Orphanet:268173", source="Orphanet:268173/attributed", source="Orphanet:268173/ntbt"}
xref: MEDGEN:78690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201080 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:268173 {source="MONDO:equivalentTo"}
xref: SCTID:405288003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268569 {source="MEDGEN:78690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009563 {source="Orphanet:268173"} ! maple syrup urine disease
is_a: MONDO:0019242 {source="PMID:33340416"} ! inborn disorder of branched-chain amino acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017054
name: thiamine-responsive maple syrup urine disease
def: "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." [Orphanet:268184]
subset: gard_rare {source="GARD:17266", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268184"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thiamine-responsive BCKD deficiency" EXACT [Orphanet:268184]
synonym: "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184]
synonym: "thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184]
synonym: "thiamine-responsive maple syrup urine disease" EXACT CLINGEN_LABEL []
synonym: "thiamine-responsive MSUD" EXACT [Orphanet:268184]
xref: GARD:17266 {source="MONDO:GARD"}
xref: ICD10CM:E71.0 {source="Orphanet:268184", source="Orphanet:268184/attributed", source="Orphanet:268184/ntbt"}
xref: MEDGEN:199627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201081 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:268184 {source="MONDO:equivalentTo"}
xref: UMLS:C0751285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199627"}
is_a: MONDO:0009563 {source="MONDO:Redundant", source="Orphanet:268184"} ! maple syrup urine disease
is_a: MONDO:0019242 {source="PMID:33340416"} ! inborn disorder of branched-chain amino acid metabolism
intersection_of: MONDO:0009563 ! maple syrup urine disease
intersection_of: disease_responds_to CHEBI:26948 ! vitamin B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017055
name: mycophenolate mofetil embryopathy
def: "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." [Orphanet:268249]
subset: gard_rare {source="GARD:20946", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268249"}
subset: orphanet_rare {source="Orphanet:268249"}
subset: rare
synonym: "MMF embryopathy" EXACT [Orphanet:268249]
xref: GARD:20946 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:268249/ntbt", source="Orphanet:268249"}
xref: MEDGEN:1387699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268249 {source="MONDO:equivalentTo"}
xref: SCTID:723406000 {source="MONDO:equivalentTo"}
xref: UMLS:C4509879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387699"}
is_a: MONDO:0016677 {source="Orphanet:268249"} ! toxic or drug-related embryofetopathy

[Term]
id: MONDO:0017056
name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
subset: gard_rare {source="GARD:20947", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268261"}
subset: rare
synonym: "21q22.13-q22.2 microdeletion syndrome" EXACT [Orphanet:268261]
synonym: "21q22.13q22.2 microdeletion syndrome" EXACT [Orphanet:268261]
synonym: "Del(21)(q22.13q22.2)" EXACT [Orphanet:268261]
synonym: "monosomy 21q22.13-q22.2" EXACT [Orphanet:268261]
synonym: "monosomy 21q22.13q22.2" EXACT [Orphanet:268261]
xref: GARD:20947 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:268261", source="Orphanet:268261/attributed", source="Orphanet:268261/ntbt"}
xref: MEDGEN:1673021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268261 {source="MONDO:equivalentTo"}
xref: UMLS:C5191008 {source="MEDGEN:1673021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013578 {source="Orphanet:268261"} ! DYRK1A-related intellectual disability syndrome
is_a: MONDO:0016919 {source="Orphanet:268261"} ! partial deletion of the long arm of chromosome 21
relationship: disease_arises_from_structure CHR:9606-chr21q22.13-q22.2 {source="https://orcid.org/0000-0002-4142-7153"} ! 21q22.13-q22.2 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017057
name: obsolete hereditary thrombocytopenia with normal platelets
subset: ordo_disorder {source="Orphanet:268322"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17267 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D69.4 {source="Orphanet:268322", source="Orphanet:268322/attributed", source="Orphanet:268322/ntbt"}
xref: Orphanet:268322 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017058
name: autosomal recessive intermediate Charcot-Marie-Tooth disease
def: "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease." [MONDO:patterns/autosomal_recessive]
subset: disease_grouping
subset: gard_rare {source="GARD:12452", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:268337"}
subset: rare
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease" EXACT []
synonym: "intermediate Charcot-Marie-Tooth disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "RI-CMT" EXACT [Orphanet:268337]
xref: GARD:12452 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:268337/attributed", source="Orphanet:268337/ntbt", source="Orphanet:268337"}
xref: MEDGEN:1843095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268337 {source="MONDO:equivalentTo"}
xref: UMLS:C5679732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843095"}
is_a: MONDO:0018778 {source="MONDO:Redundant", source="Orphanet:268337"} ! intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0018778 ! intermediate Charcot-Marie-Tooth disease
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease" xsd:anyURI {source="GARD:0012452"}

[Term]
id: MONDO:0017059
name: obsolete neural tube closure defect
def: "OBSOLETE. A disease that has its basis in the disruption of neural tube closure." [MONDO:design_pattern]
subset: ordo_group_of_disorders {source="Orphanet:268357"}
synonym: "disorder of neural tube closure" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "neural tube closure disease" EXACT [MONDO:design_pattern]
xref: GARD:17268 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:268357 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017060
name: open iniencephaly
subset: gard_rare {source="GARD:20949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268363"}
subset: rare
xref: GARD:20949 {source="MONDO:GARD"}
xref: ICD10CM:Q00.2 {source="Orphanet:268363/attributed", source="Orphanet:268363/ntbt", source="Orphanet:268363"}
xref: MEDGEN:608900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268363 {source="MONDO:equivalentTo"}
xref: SCTID:203928008 {source="MONDO:equivalentTo"}
xref: UMLS:C0431285 {source="MEDGEN:608900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018968 {source="Orphanet:268363"} ! iniencephaly

[Term]
id: MONDO:0017061
name: closed iniencephaly
subset: gard_rare {source="GARD:20950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268366"}
subset: rare
xref: GARD:20950 {source="MONDO:GARD"}
xref: ICD10CM:Q00.2 {source="Orphanet:268366", source="Orphanet:268366/attributed", source="Orphanet:268366/ntbt"}
xref: MEDGEN:608901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268366 {source="MONDO:equivalentTo"}
xref: SCTID:203927003 {source="MONDO:equivalentTo"}
xref: UMLS:C0431286 {source="MEDGEN:608901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018968 {source="Orphanet:268366"} ! iniencephaly

[Term]
id: MONDO:0017062
name: spina bifida aperta
subset: gard_rare {source="GARD:20951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:268369"}
subset: ordo_morphological_anomaly {source="Orphanet:268369"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20951 {source="MONDO:GARD"}
xref: ICD10CM:Q05.0 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.1 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.2 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.3 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.4 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.5 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.6 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.7 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.8 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: ICD10CM:Q05.9 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"}
xref: icd11.foundation:187581000 {source="Orphanet:268369", source="MONDO:equivalentTo"}
xref: MEDGEN:181490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268369 {source="MONDO:equivalentTo"}
xref: SCTID:58557008 {source="MONDO:equivalentTo"}
xref: UMLS:C0917813 {source="MONDO:equivalentTo", source="MEDGEN:181490", source="MONDO:MEDGEN"}
is_a: MONDO:0019351 {source="Orphanet:268369"} ! isolated spina bifida

[Term]
id: MONDO:0017063
name: total spina bifida aperta
subset: gard_rare {source="GARD:20952", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20952 {source="MONDO:GARD"}
xref: Orphanet:268377 {source="MONDO:equivalentTo"}
is_a: MONDO:0017062 {source="Orphanet:268377"} ! spina bifida aperta

[Term]
id: MONDO:0017064
name: thoracolumbosacral spina bifida aperta
subset: gard_rare {source="GARD:20953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20953 {source="MONDO:GARD"}
xref: MEDGEN:1732917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268384 {source="MONDO:equivalentTo"}
xref: UMLS:C5439435 {source="MEDGEN:1732917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017062 {source="Orphanet:268384"} ! spina bifida aperta

[Term]
id: MONDO:0017065
name: lumbosacral spina bifida aperta
subset: gard_rare {source="GARD:20954", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20954 {source="MONDO:GARD"}
xref: MEDGEN:1748032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268388 {source="MONDO:equivalentTo"}
xref: UMLS:C5439434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1748032"}
is_a: MONDO:0017062 {source="Orphanet:268388"} ! spina bifida aperta

[Term]
id: MONDO:0017066
name: cervical spina bifida aperta
subset: gard_rare {source="GARD:20955", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20955 {source="MONDO:GARD"}
xref: ICD9:741.91 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:743641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268392 {source="MONDO:equivalentTo"}
xref: SCTID:425687007 {source="MONDO:equivalentTo"}
xref: UMLS:C1960883 {source="MEDGEN:743641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017062 {source="Orphanet:268392"} ! spina bifida aperta

[Term]
id: MONDO:0017067
name: cervicothoracic spina bifida aperta
subset: gard_rare {source="GARD:20956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20956 {source="MONDO:GARD"}
xref: MEDGEN:1770642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268397 {source="MONDO:equivalentTo"}
xref: UMLS:C5439433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1770642"}
is_a: MONDO:0017062 {source="Orphanet:268397"} ! spina bifida aperta

[Term]
id: MONDO:0017068
name: upper thoracic spina bifida aperta
subset: gard_rare {source="GARD:20957", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20957 {source="MONDO:GARD"}
xref: Orphanet:268740 {source="MONDO:equivalentTo"}
is_a: MONDO:0017062 {source="Orphanet:268740"} ! spina bifida aperta

[Term]
id: MONDO:0017069
name: spina bifida cystica
def: "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." [NCIT:C101201]
subset: disease_grouping
subset: gard_rare {source="GARD:20958", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:268744"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "meningomyelocele" EXACT [NCIT:C101201]
synonym: "myelomeningocele" NARROW [NCIT:C101201]
synonym: "open spina bifida" RELATED [MESH:D016137]
synonym: "spina bifida aperta" RELATED [MESH:D016137]
synonym: "spina bifida manifesta" RELATED [MESH:D016137]
synonym: "spina bifida, open" RELATED [MESH:D016137]
xref: GARD:20958 {source="MONDO:GARD"}
xref: ICD10CM:Q05.0 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.1 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.2 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.3 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.4 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.5 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.6 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.7 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.8 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: ICD10CM:Q05.9 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"}
xref: icd11.foundation:979482551 {source="Orphanet:268744", source="MONDO:equivalentTo"}
xref: MedDRA:10071011 {source="Orphanet:268744", source="Orphanet:268744/e"}
xref: MEDGEN:21277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016137 {source="MONDO:equivalentTo"}
xref: NANDO:1200509 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100215 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200814 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C101201 {source="MONDO:equivalentTo"}
xref: Orphanet:268744 {source="MONDO:equivalentTo"}
xref: UMLS:C0037917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21277"}
is_a: MONDO:0008449 {source="MESH:D016137", source="MONDO:Redundant", source="NCIT:C101201"} ! spina bifida
is_a: MONDO:0019351 {source="Orphanet:268744"} ! isolated spina bifida

[Term]
id: MONDO:0017070
name: total spina bifida cystica
subset: gard_rare {source="GARD:20959", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20959 {source="MONDO:GARD"}
xref: Orphanet:268748 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268748"} ! myelomeningocele

[Term]
id: MONDO:0017071
name: thoracolumbosacral spina bifida cystica
subset: gard_rare {source="GARD:20960", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20960 {source="MONDO:GARD"}
xref: Orphanet:268752 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268752"} ! myelomeningocele

[Term]
id: MONDO:0017072
name: lumbosacral spina bifida cystica
subset: gard_rare {source="GARD:20961", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20961 {source="MONDO:GARD"}
xref: Orphanet:268758 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268758"} ! myelomeningocele

[Term]
id: MONDO:0017073
name: cervical spina bifida cystica
subset: gard_rare {source="GARD:20962", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20962 {source="MONDO:GARD"}
xref: Orphanet:268762 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268762"} ! myelomeningocele

[Term]
id: MONDO:0017074
name: cervicothoracic spina bifida cystica
subset: gard_rare {source="GARD:20963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20963 {source="MONDO:GARD"}
xref: Orphanet:268766 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268766"} ! myelomeningocele

[Term]
id: MONDO:0017075
name: upper thoracic spina bifida cystica
subset: gard_rare {source="GARD:20964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:20964 {source="MONDO:GARD"}
xref: Orphanet:268770 {source="MONDO:equivalentTo"}
is_a: MONDO:0019773 {source="Orphanet:268770"} ! myelomeningocele

[Term]
id: MONDO:0017076
name: posterior meningocele
def: "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region." [Orphanet:268810]
subset: gard_rare {source="GARD:20965", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268810"}
subset: ordo_morphological_anomaly {source="Orphanet:268810"}
subset: orphanet_rare {source="Orphanet:268810"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20965 {source="MONDO:GARD"}
xref: ICD10CM:Q05.1 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"}
xref: ICD10CM:Q05.2 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"}
xref: ICD10CM:Q05.3 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"}
xref: ICD10CM:Q05.4 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"}
xref: ICD10CM:Q05.6 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"}
xref: ICD10CM:Q05.7 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"}
xref: ICD10CM:Q05.8 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"}
xref: ICD10CM:Q05.9 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"}
xref: MEDGEN:1806905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268810 {source="MONDO:equivalentTo"}
xref: UMLS:C5680741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806905"}
is_a: MONDO:0017069 {source="Orphanet:268810"} ! spina bifida cystica

[Term]
id: MONDO:0017077
name: myelocystocele
subset: gard_rare {source="GARD:20966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:268813"}
subset: ordo_morphological_anomaly {source="Orphanet:268813"}
subset: rare
xref: GARD:20966 {source="MONDO:GARD"}
xref: ICD10CM:Q05.0 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.1 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.2 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.3 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.4 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.5 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.6 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.7 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.8 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: ICD10CM:Q05.9 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"}
xref: icd11.foundation:863949070 {source="MONDO:equivalentTo", source="Orphanet:268813"}
xref: MEDGEN:1639659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268813 {source="MONDO:equivalentTo"}
xref: SCTID:203994003 {source="MONDO:equivalentTo"}
xref: UMLS:C4551677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639659"}
is_a: MONDO:0017069 {source="Orphanet:268813"} ! spina bifida cystica

[Term]
id: MONDO:0017078
name: cephalocele
def: "A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used." [NCIT:C84687]
subset: disease_grouping
subset: gard_rare {source="GARD:20967", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:268817"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cephalocele" EXACT [MONDO:ambiguous]
synonym: "cephalocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cranium bifidum" EXACT [NCIT:C84687]
synonym: "encephalocele" EXACT [NCIT:C84687]
xref: GARD:20967 {source="MONDO:GARD"}
xref: HP:0011815 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q01.0 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"}
xref: ICD10CM:Q01.1 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"}
xref: ICD10CM:Q01.2 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"}
xref: ICD10CM:Q01.8 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"}
xref: ICD10CM:Q01.9 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"}
xref: icd11.foundation:1520916568 {source="MONDO:equivalentTo", source="Orphanet:268817"}
xref: ICD9:742.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84687 {source="MONDO:equivalentTo"}
xref: Orphanet:268817 {source="MONDO:equivalentTo"}
xref: SCTID:55999004 {source="MONDO:equivalentTo"}
xref: UMLS:C0014065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4934"}
is_a: MONDO:0002320 {source="NCIT:C84687"} ! congenital nervous system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "cephalocele (disease)" xsd:string

[Term]
id: MONDO:0017079
name: meningoencephalocele
def: "A congenital abnormality in which the meninges protrude through a defect in the cranium." [NCIT:C124517]
subset: gard_rare {source="GARD:20968", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268820"}
subset: ordo_morphological_anomaly {source="Orphanet:268820"}
subset: orphanet_rare {source="Orphanet:268820"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain meninx cephalocele (disease)" EXACT [MONDO:patterns/location]
synonym: "cephalocele (disease) of brain meninx" EXACT []
synonym: "cranial meningocele" RELATED [Orphanet:268820]
synonym: "encephalomeningocele" RELATED [GARD:0003473]
synonym: "meningoencephalocele" EXACT []
xref: GARD:20968 {source="MONDO:GARD"}
xref: ICD10CM:Q01.0 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="MONDO:relatedTo", source="Orphanet:268820"}
xref: ICD10CM:Q01.1 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="Orphanet:268820"}
xref: ICD10CM:Q01.2 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="MONDO:relatedTo", source="Orphanet:268820"}
xref: ICD10CM:Q01.8 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="Orphanet:268820"}
xref: ICD10CM:Q01.9 {source="Orphanet:268820/inclusion", source="Orphanet:268820/ntbt", source="Orphanet:268820"}
xref: MEDGEN:82743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200813 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C124517 {source="MONDO:equivalentTo"}
xref: Orphanet:268820 {source="MONDO:equivalentTo"}
xref: SCTID:52330001 {source="MONDO:equivalentTo"}
xref: UMLS:C0266456 {source="MEDGEN:82743", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001147 {source="NCIT:C124517"} ! meningocele
is_a: MONDO:0017078 {source="MONDO:Redundant", source="Orphanet:268820"} ! cephalocele
intersection_of: MONDO:0017078 ! cephalocele
intersection_of: disease_has_location UBERON:0003547 ! brain meninx

[Term]
id: MONDO:0017080
name: occipital encephalocele
subset: gard_rare {source="GARD:20969", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268823"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20969 {source="MONDO:GARD"}
xref: ICD10CM:Q01.2 {source="MONDO:equivalentTo", source="Orphanet:268823", source="Orphanet:268823/specific", source="Orphanet:268823/e"}
xref: MEDGEN:4935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268823 {source="MONDO:equivalentTo"}
xref: SCTID:42376006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4935"}
is_a: MONDO:0016057 {source="Orphanet:268823"} ! isolated encephalocele

[Term]
id: MONDO:0017081
name: parietal encephalocele
subset: gard_rare {source="GARD:20970", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268826"}
subset: rare
xref: GARD:20970 {source="MONDO:GARD"}
xref: ICD10CM:Q01.8 {source="Orphanet:268826/attributed", source="Orphanet:268826/ntbt", source="Orphanet:268826"}
xref: MEDGEN:488903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268826 {source="MONDO:equivalentTo"}
xref: SCTID:253109005 {source="MONDO:equivalentTo"}
xref: UMLS:C0431294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488903"}
is_a: MONDO:0016057 {source="Orphanet:268826"} ! isolated encephalocele

[Term]
id: MONDO:0017082
name: basal encephalocele
subset: gard_rare {source="GARD:20971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268829"}
subset: rare
xref: GARD:20971 {source="MONDO:GARD"}
xref: ICD10CM:Q01.8 {source="Orphanet:268829/attributed", source="Orphanet:268829/ntbt", source="Orphanet:268829"}
xref: MEDGEN:868771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268829 {source="MONDO:equivalentTo"}
xref: UMLS:C4023176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:868771"}
is_a: MONDO:0016057 {source="Orphanet:268829"} ! isolated encephalocele

[Term]
id: MONDO:0017083
name: obsolete lipoma associated with neurospinal dysraphism
subset: disease_grouping
xref: GARD:20972 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:268832 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0017084
name: leptomyelolipoma
def: "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present." [Orphanet:268838]
subset: gard_rare {source="GARD:20973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_morphological_anomaly {source="Orphanet:268838"}
subset: rare
xref: GARD:20973 {source="MONDO:GARD"}
xref: MEDGEN:1657711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268838 {source="MONDO:equivalentTo"}
xref: UMLS:C4749649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657711"}
is_a: MONDO:0018075 {source="https://orcid.org/0000-0002-4142-7153"} ! neural tube defect
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017085
name: obsolete malformation of the neurenteric canal, spinal cord and column
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:268843"}
xref: GARD:20974 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:268843 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0017086
name: primary tethered cord syndrome
def: "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated." [Orphanet:268861]
subset: gard_rare {source="GARD:4018", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1762"}
subset: ordo_disorder {source="Orphanet:268861"}
subset: ordo_morphological_anomaly {source="Orphanet:268861"}
subset: orphanet_rare {source="Orphanet:268861"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "occult spinal dysraphism" RELATED [GARD:0004018]
synonym: "occult spinal dysraphism sequence" RELATED [GARD:0004018]
synonym: "primary tethered spinal cord syndrome" EXACT [Orphanet:268861]
synonym: "segmental vertebral anomalies" RELATED [GARD:0004018]
synonym: "Tethered Cord Syndrome" EXACT [NORD:1762]
synonym: "tethered cord syndrome" RELATED [GARD:0004018]
xref: GARD:4018 {source="MONDO:GARD"}
xref: icd11.foundation:66705662 {source="Orphanet:268861", source="MONDO:equivalentTo"}
xref: MEDGEN:1636724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1762 {source="MONDO:NORD"}
xref: Orphanet:268861 {source="MONDO:equivalentTo"}
xref: SCTID:70534000 {source="MONDO:equivalentTo"}
xref: UMLS:C4708602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636724"}
is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect

[Term]
id: MONDO:0017087
name: neurenteric cyst
subset: gard_rare {source="GARD:20975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268865"}
subset: ordo_morphological_anomaly {source="Orphanet:268865"}
subset: orphanet_rare {source="Orphanet:268865"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20975 {source="MONDO:GARD"}
xref: MEDGEN:14343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268865 {source="MONDO:equivalentTo"}
xref: UMLS:C0027806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14343"}
is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect

[Term]
id: MONDO:0017088
name: isolated amyelia
subset: gard_rare {source="GARD:20976", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268868"}
subset: ordo_morphological_anomaly {source="Orphanet:268868"}
subset: orphanet_rare {source="Orphanet:268868"}
subset: rare
xref: GARD:20976 {source="MONDO:GARD"}
xref: ICD10CM:Q06.0 {source="Orphanet:268868/specific", source="Orphanet:268868", source="Orphanet:268868/e"}
xref: icd11.foundation:1787577133 {source="MONDO:equivalentTo", source="Orphanet:268868", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:268868 {source="MONDO:equivalentTo"}
is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect

[Term]
id: MONDO:0017089
name: isolated megalencephaly
def: "A megalencephaly (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: gard_rare {source="GARD:20977", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268920"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated macrencephaly" EXACT [Orphanet:268920]
synonym: "isolated megalencephaly (disease)" EXACT []
synonym: "nonsyndromic megalencephaly (disease)" EXACT [MONDO:patterns/isolated]
xref: GARD:20977 {source="MONDO:GARD"}
xref: ICD10CM:Q04.5 {source="Orphanet:268920/attributed", source="Orphanet:268920/ntbt", source="Orphanet:268920"}
xref: Orphanet:268920 {source="MONDO:equivalentTo"}
is_a: MONDO:0016608 {source="MONDO:Redundant", source="Orphanet:268920"} ! megalencephaly
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:268920", source="Orphanet:268920/inferred"} ! disorder of development or morphogenesis
intersection_of: MONDO:0016608 ! megalencephaly
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0017090
name: obsolete midline cerebral malformation
subset: ordo_group_of_disorders {source="Orphanet:268926"}
subset: otar {source="MONDO:OTAR"}
synonym: "Midline brain malformation" EXACT [Orphanet:268926]
xref: GARD:20978 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.8 {source="Orphanet:268926", source="Orphanet:268926/attributed", source="Orphanet:268926/ntbt"}
xref: Orphanet:268926 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017091
name: bilateral polymicrogyria
def: "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection." [Orphanet:268940]
subset: gard_rare {source="GARD:17269", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268940"}
subset: ordo_morphological_anomaly {source="Orphanet:268940"}
subset: orphanet_rare {source="Orphanet:268940"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17269 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:268940", source="Orphanet:268940/attributed", source="Orphanet:268940/ntbt"}
xref: MEDGEN:1647593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268940 {source="MONDO:equivalentTo"}
xref: SCTID:765757003 {source="MONDO:equivalentTo"}
xref: UMLS:C4707565 {source="MEDGEN:1647593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000087 {source="Orphanet:268940"} ! polymicrogyria

[Term]
id: MONDO:0017092
name: unilateral polymicrogyria
def: "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria." [Orphanet:268943]
subset: gard_rare {source="GARD:20980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:268943"}
subset: ordo_morphological_anomaly {source="Orphanet:268943"}
subset: orphanet_rare {source="Orphanet:268943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20980 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:268943", source="Orphanet:268943/attributed", source="Orphanet:268943/ntbt"}
xref: MEDGEN:870513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268943 {source="MONDO:equivalentTo"}
xref: SCTID:715905006 {source="MONDO:equivalentTo"}
xref: UMLS:C4024960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:870513"}
is_a: MONDO:0000087 {source="Orphanet:268943"} ! polymicrogyria

[Term]
id: MONDO:0017093
name: unilateral focal polymicrogyria
def: "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." [Orphanet:268947]
subset: gard_rare {source="GARD:20981", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268947"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080919 {source="MONDO:equivalentTo"}
xref: GARD:20981 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:268947/attributed", source="Orphanet:268947/ntbt", source="Orphanet:268947"}
xref: MEDGEN:1842371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268947 {source="MONDO:equivalentTo"}
xref: UMLS:C5680773 {source="MEDGEN:1842371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017092 {source="Orphanet:268947"} ! unilateral polymicrogyria

[Term]
id: MONDO:0017094
name: cerebral cortical dysplasia
def: "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay." [MESH:D054220]
subset: disease_grouping
subset: gard_rare {source="GARD:20982", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:268950"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain cortical dysplasia" EXACT [Orphanet:268950]
synonym: "cortical dysplasia" EXACT [NCIT:C42088]
xref: GARD:20982 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:268950/attributed", source="Orphanet:268950/ntbt", source="Orphanet:268950"}
xref: icd11.foundation:1352548261 {source="Orphanet:268950", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:98129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054220 {source="MONDO:equivalentTo"}
xref: NCIT:C42088 {source="MONDO:equivalentTo"}
xref: Orphanet:268950 {source="MONDO:equivalentTo"}
xref: SCTID:253153000 {source="MONDO:equivalentTo"}
xref: UMLS:C0431380 {source="MEDGEN:98129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017095
name: isolated focal cortical dysplasia type I
subset: gard_rare {source="GARD:20983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268961"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FCD type I" EXACT [Orphanet:268961]
xref: GARD:20983 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:268961/attributed", source="Orphanet:268961/ntbt", source="Orphanet:268961"}
xref: MEDGEN:1843077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268961 {source="MONDO:equivalentTo"}
xref: UMLS:C5679772 {source="MEDGEN:1843077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019009 {source="Orphanet:268961"} ! isolated focal cortical dysplasia

[Term]
id: MONDO:0017096
name: isolated focal cortical dysplasia type Ia
subset: gard_rare {source="GARD:20984", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:268973"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268973"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FCD type Ia" EXACT [Orphanet:268973]
xref: GARD:20984 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:268973", source="Orphanet:268973/attributed", source="Orphanet:268973/ntbt"}
xref: MEDGEN:1843115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200565 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:268973 {source="MONDO:equivalentTo"}
xref: UMLS:C5679767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843115"}
is_a: MONDO:0017095 {source="Orphanet:268973"} ! isolated focal cortical dysplasia type I

[Term]
id: MONDO:0017097
name: isolated focal cortical dysplasia type Ib
subset: gard_rare {source="GARD:20985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:268980"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268980"}
subset: rare
synonym: "FCD type IB" EXACT [Orphanet:268980]
xref: GARD:20985 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:268980/attributed", source="Orphanet:268980/ntbt", source="Orphanet:268980"}
xref: MEDGEN:1842666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200566 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:268980 {source="MONDO:equivalentTo"}
xref: UMLS:C5679765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842666"}
is_a: MONDO:0017095 {source="Orphanet:268980"} ! isolated focal cortical dysplasia type I

[Term]
id: MONDO:0017098
name: isolated focal cortical dysplasia type Ic
subset: gard_rare {source="GARD:20986", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:268987"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:268987"}
subset: rare
synonym: "FCD type Ic" EXACT [Orphanet:268987]
xref: GARD:20986 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:268987", source="Orphanet:268987/attributed", source="Orphanet:268987/ntbt"}
xref: MEDGEN:1842276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200567 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:268987 {source="MONDO:equivalentTo"}
xref: UMLS:C5679766 {source="MEDGEN:1842276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017095 {source="Orphanet:268987"} ! isolated focal cortical dysplasia type I

[Term]
id: MONDO:0017099
name: obsolete facioscapulohumeral dystrophy
is_obsolete: true
replaced_by: MONDO:0001347

[Term]
id: MONDO:0017100
name: neutropenia-monocytopenia-deafness syndrome
def: "Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." [Orphanet:2690]
subset: gard_rare {source="GARD:3982", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2690"}
subset: orphanet_rare {source="Orphanet:2690"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:3982 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="Orphanet:2690/attributed", source="Orphanet:2690/ntbt", source="Orphanet:2690"}
xref: MEDGEN:1383523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2690 {source="MONDO:equivalentTo"}
xref: UMLS:C4518430 {source="MEDGEN:1383523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia

[Term]
id: MONDO:0017101
name: isolated focal cortical dysplasia type IIa
subset: gard_rare {source="GARD:17270", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:269001"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:269001"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FCD type IIa" EXACT [Orphanet:269001]
xref: GARD:17270 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:269001/attributed", source="Orphanet:269001/ntbt", source="Orphanet:269001"}
xref: MEDGEN:375876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200568 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:269001 {source="MONDO:equivalentTo"}
xref: UMLS:C1846386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375876"}
is_a: MONDO:0011818 {source="Orphanet:269001"} ! isolated focal cortical dysplasia type II

[Term]
id: MONDO:0017102
name: isolated focal cortical dysplasia type IIb
subset: gard_rare {source="GARD:17271", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:269008"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:269008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FCD type IIb" EXACT [Orphanet:269008]
xref: GARD:17271 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:269008/attributed", source="Orphanet:269008/ntbt", source="Orphanet:269008"}
xref: MEDGEN:1842232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200569 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:269008 {source="MONDO:equivalentTo"}
xref: UMLS:C5679768 {source="MEDGEN:1842232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011818 {source="Orphanet:269008"} ! isolated focal cortical dysplasia type II

[Term]
id: MONDO:0017103
name: encephaloclastic disorder
subset: disease_grouping
subset: gard_rare {source="GARD:20987", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:269190"}
subset: rare
xref: GARD:20987 {source="MONDO:GARD"}
xref: icd11.foundation:1436588898 {source="Orphanet:269190", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1843179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269190 {source="MONDO:equivalentTo"}
xref: UMLS:C5680772 {source="MONDO:equivalentTo", source="MEDGEN:1843179", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
relationship: excluded_subClassOf MONDO:0015960 {source="MONDO:Redundant", source="Orphanet:269190", source="Orphanet:269190/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:269190", source="Orphanet:269190/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic nervous system disorder

[Term]
id: MONDO:0017104
name: obsolete central nervous system cystic malformation
subset: ordo_group_of_disorders {source="Orphanet:269194"}
xref: GARD:20988 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:269194 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017105
name: glioependymal/ependymal cyst
def: "Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias)." [Orphanet:269197]
subset: gard_rare {source="GARD:20989", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:269197"}
subset: ordo_morphological_anomaly {source="Orphanet:269197"}
subset: orphanet_rare {source="Orphanet:269197"}
subset: rare
xref: GARD:20989 {source="MONDO:GARD"}
xref: Orphanet:269197 {source="MONDO:equivalentTo"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017106
name: retrocerebellar cyst
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_morphological_anomaly {source="Orphanet:269200"}
subset: rare
synonym: "Retrocerebellar arachnoid cyst" EXACT [Orphanet:269200]
synonym: "Retrocerebellar cyst" EXACT [MONDO:ambiguous]
synonym: "retrocerebellar cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0006951 {source="MONDO:otherHierarchy"}
xref: MEDGEN:335172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269200 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1845370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335172"}
is_a: MONDO:0020134 {source="Orphanet:269200"} ! cystic malformation of the posterior fossa
property_value: IAO:0000589 "retrocerebellar cyst (disease)" xsd:string

[Term]
id: MONDO:0017107
name: isolated cerebellar vermis agenesis
subset: gard_rare {source="GARD:20990", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:269203"}
subset: ordo_morphological_anomaly {source="Orphanet:269203"}
subset: orphanet_rare {source="Orphanet:269203"}
subset: rare
xref: GARD:20990 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:269203/ntbt", source="Orphanet:269203"}
xref: MEDGEN:1814464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269203 {source="MONDO:equivalentTo"}
xref: UMLS:C5680776 {source="MEDGEN:1814464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017108
name: isolated total cerebellar vermis agenesis
subset: gard_rare {source="GARD:20991", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:269206"}
subset: rare
xref: GARD:20991 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:269206/ntbt", source="Orphanet:269206"}
xref: MEDGEN:1842540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269206 {source="MONDO:equivalentTo"}
xref: UMLS:C5680781 {source="MEDGEN:1842540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017107 {source="Orphanet:269206"} ! isolated cerebellar vermis agenesis

[Term]
id: MONDO:0017109
name: isolated partial cerebellar vermis agenesis
subset: gard_rare {source="GARD:20992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:269209"}
subset: rare
xref: GARD:20992 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:269209", source="Orphanet:269209/ntbt"}
xref: MEDGEN:1842645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269209 {source="MONDO:equivalentTo"}
xref: UMLS:C5680780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842645"}
is_a: MONDO:0017107 {source="Orphanet:269209"} ! isolated cerebellar vermis agenesis

[Term]
id: MONDO:0017110
name: isolated Dandy-Walker malformation with hydrocephalus
subset: gard_rare {source="GARD:20993", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:269212"}
subset: rare
xref: GARD:20993 {source="MONDO:GARD"}
xref: ICD10CM:Q03.1 {source="Orphanet:269212", source="Orphanet:269212/attributed", source="Orphanet:269212/ntbt"}
xref: MEDGEN:1842616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269212 {source="MONDO:equivalentTo"}
xref: UMLS:C5680779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842616"}
is_a: MONDO:0009072 {source="Orphanet:269212"} ! Dandy-Walker syndrome

[Term]
id: MONDO:0017111
name: isolated Dandy-Walker malformation without hydrocephalus
subset: gard_rare {source="GARD:20994", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:269215"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20994 {source="MONDO:GARD"}
xref: ICD10CM:Q03.1 {source="Orphanet:269215", source="Orphanet:269215/attributed", source="Orphanet:269215/ntbt"}
xref: MEDGEN:1842486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269215 {source="MONDO:equivalentTo"}
xref: UMLS:C5680778 {source="MONDO:equivalentTo", source="MEDGEN:1842486", source="MONDO:MEDGEN"}
is_a: MONDO:0009072 {source="Orphanet:269215"} ! Dandy-Walker syndrome

[Term]
id: MONDO:0017112
name: isolated unilateral hemispheric cerebellar hypoplasia
def: "Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal." [Orphanet:269218]
subset: gard_rare {source="GARD:20995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:269218"}
subset: ordo_morphological_anomaly {source="Orphanet:269218"}
subset: orphanet_rare {source="Orphanet:269218"}
subset: rare
xref: GARD:20995 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:269218", source="Orphanet:269218/ntbt"}
xref: MEDGEN:1638819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269218 {source="MONDO:equivalentTo"}
xref: SCTID:766934006 {source="MONDO:equivalentTo"}
xref: UMLS:C4707885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638819"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017113
name: isolated bilateral hemispheric cerebellar hypoplasia
def: "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." [Orphanet:269221]
subset: gard_rare {source="GARD:20996", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:269221"}
subset: ordo_morphological_anomaly {source="Orphanet:269221"}
subset: orphanet_rare {source="Orphanet:269221"}
subset: rare
xref: GARD:20996 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:269221/ntbt", source="Orphanet:269221"}
xref: MEDGEN:1657026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269221 {source="MONDO:equivalentTo"}
xref: UMLS:C4749791 {source="MONDO:equivalentTo", source="MEDGEN:1657026", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017114
name: obsolete global cerebellar malformation
subset: ordo_group_of_disorders {source="Orphanet:269224"}
synonym: "diffuse cerebellar malformation" EXACT [Orphanet:269224]
xref: GARD:20997 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.3 {source="Orphanet:269224", source="Orphanet:269224/ntbt"}
xref: Orphanet:269224 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017115
name: obsolete bifid nose
is_obsolete: true
replaced_by: MONDO:0000110

[Term]
id: MONDO:0017116
name: congenital communicating hydrocephalus
subset: gard_rare {source="GARD:20998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:269505"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital non-obstructive hydrocephalus" EXACT [Orphanet:269505]
xref: GARD:20998 {source="MONDO:GARD"}
xref: ICD10CM:Q03.8 {source="Orphanet:269505", source="Orphanet:269505/attributed", source="Orphanet:269505/ntbt"}
xref: MEDGEN:1842324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269505 {source="MONDO:equivalentTo"}
xref: UMLS:C5679774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842324"}
is_a: MONDO:0016349 {source="Orphanet:269505"} ! congenital hydrocephalus
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017117
name: congenital non-communicating hydrocephalus
subset: gard_rare {source="GARD:17272", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:269510"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital obstructive hydrocephalus" EXACT [Orphanet:269510]
xref: GARD:17272 {source="MONDO:GARD"}
xref: ICD10CM:Q03.1 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"}
xref: ICD10CM:Q03.2 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"}
xref: ICD10CM:Q03.8 {source="Orphanet:269510", source="Orphanet:269510/btnt", source="Orphanet:269510/specific"}
xref: MEDGEN:1616373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269510 {source="MONDO:equivalentTo"}
xref: SCTID:762295002 {source="MONDO:equivalentTo"}
xref: UMLS:C4546092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616373"}
is_a: MONDO:0016349 {source="Orphanet:269510"} ! congenital hydrocephalus
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017118
name: obsolete syndrome with a cerebellar malformation as major feature
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:269523"}
xref: GARD:20999 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:269523 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0017119
name: obsolete syndrome with microcephaly as major feature
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:269528"}
xref: GARD:21000 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:2011102370 {source="MONDO:obsoleteEquivalent", source="Orphanet:269528", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:269528 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0017120
name: obsolete other syndrome with a central nervous system malformation as major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:269531"}
xref: GARD:21001 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:269531 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017121
name: obsolete syndrome with a Dandy-Walker malformation as major feature
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:269546"}
xref: GARD:21002 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:269546 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0017122
name: obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:269573"}
xref: GARD:21010 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:269573 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017123
name: arthrogryposis-renal dysfunction-cholestasis syndrome
def: "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." [Orphanet:2697]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0003-4830-7530)
subset: gard_rare {source="GARD:794", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2697"}
subset: ordo_malformation_syndrome {source="Orphanet:2697"}
subset: orphanet_rare {source="Orphanet:2697"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARC syndrome" EXACT [MONDO:0000444, Orphanet:2697]
synonym: "arthrogryposis - renal dysfunction - cholestasis" RELATED [GARD:0000794]
synonym: "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis" RELATED [GARD:0000794]
synonym: "arthrogryposis renal dysfunction cholestasis syndrome" RELATED [GARD:0000794]
synonym: "arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT [DOID:0050763]
synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT [DOID:0050763]
synonym: "arthrogryposis-renal dysfunction-cholestasis" EXACT [DOID:0050763]
xref: DOID:0050763 {source="MONDO:equivalentTo"}
xref: GARD:794 {source="MONDO:GARD"}
xref: ICD10CM:Q89.7 {source="Orphanet:2697/attributed", source="Orphanet:2697/ntbt", source="Orphanet:2697"}
xref: MEDGEN:1647210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535382 {source="Orphanet:2697", source="MONDO:equivalentTo", source="Orphanet:2697/e"}
xref: OMIMPS:208085 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2697 {source="MONDO:equivalentTo"}
xref: SCTID:720513002 {source="MONDO:equivalentTo"}
xref: UMLS:C4551984 {source="MEDGEN:1647210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0050763", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0008823 ! arthrogryposis multiplex congenita 2, neurogenic type
is_a: MONDO:0015168 {source="Orphanet:2697"} ! arthrogryposis multiplex congenita
is_a: MONDO:0017755 {source="Orphanet:2697"} ! inborn disorder of bilirubin metabolism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:208085"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0017124
name: noma
def: "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." [Orphanet:2700]
subset: gard_rare {source="GARD:4001", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2700"}
subset: orphanet_rare {source="Orphanet:2700"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancrum oris" EXACT [DOID:9672, ICD9CM:528.1, Orphanet:2700]
synonym: "gangrenous stomatitis" EXACT [DOID:9672]
synonym: "noma neonatorum" RELATED [GARD:0004001]
synonym: "oral gangrene" RELATED [GARD:0004001]
synonym: "oro-facial gangrene" RELATED [GARD:0004001]
synonym: "oro-facial noma" RELATED [GARD:0004001]
xref: DOID:9672 {source="EFO:1001063", source="MONDO:equivalentTo"}
xref: EFO:1001063 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4001 {source="MONDO:GARD"}
xref: ICD10CM:A69.0 {source="Orphanet:2700", source="DOID:9672", source="Orphanet:2700/e"}
xref: icd11.foundation:340823130 {source="MONDO:equivalentTo", source="Orphanet:2700"}
xref: ICD9:528.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9672"}
xref: MedDRA:10029502 {source="EFO:1001063", source="Orphanet:2700", source="Orphanet:2700/e"}
xref: MEDGEN:10366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009625 {source="EFO:1001063", source="MONDO:equivalentTo", source="Orphanet:2700", source="DOID:9672", source="Orphanet:2700/e"}
xref: NCIT:C34852 {source="MONDO:equivalentTo", source="DOID:9672"}
xref: Orphanet:2700 {source="MONDO:equivalentTo"}
xref: SCTID:18116006 {source="MONDO:equivalentTo", source="DOID:9672"}
xref: SCTID:196528007 {source="DOID:9672"}
xref: SCTID:266427007 {source="DOID:9672"}
xref: SCTID:399050001 {source="DOID:9672"}
xref: UMLS:C0028271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10366"}
is_a: MONDO:0004848 {source="DOID:9672", source="NCIT:C34852"} ! ulcerative stomatitis
is_a: MONDO:0005113 {source="Orphanet:2700"} ! bacterial infectious disease
relationship: excluded_subClassOf MONDO:0005318 {source="EFO:1001063", source="https://orcid.org/0000-0001-5208-3432"} ! canker sore
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4001/noma" xsd:anyURI {source="GARD:0004001"}

[Term]
id: MONDO:0017125
name: obsolete oculofaciocardiodental syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2691" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010261

[Term]
id: MONDO:0017126
name: oculo-skeletal-renal syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:2716"}
synonym: "oculo skeletal renal syndrome" RELATED [GARD:0004028]
xref: Orphanet:2716 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4028/oculo-skeletal-renal-syndrome" xsd:anyURI {source="GARD:0004028"}

[Term]
id: MONDO:0017127
name: obsolete inherited soft tissue tumor
def: "OBSOLETE. An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:271832"}
synonym: "genetic mesenchymal cell neoplasm" EXACT [MONDO:patterns/genetic]
synonym: "genetic mesenchymal tumor" EXACT [Orphanet:271832]
synonym: "genetic mesenchymal tumour" EXACT OMO:0003005 []
synonym: "genetic soft tissue tumor" RELATED [Orphanet:271832]
synonym: "genetic soft tissue tumour" RELATED OMO:0003005 []
synonym: "hereditary mesenchymal cell neoplasm" EXACT [MONDO:patterns/hereditary]
xref: GARD:21011 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:271832 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017128
name: obsolete inherited digestive tract tumor
subset: ordo_group_of_disorders {source="Orphanet:271835"}
synonym: "genetic digestive tract tumor" RELATED [Orphanet:271835]
synonym: "genetic digestive tract tumour" RELATED OMO:0003005 []
xref: GARD:21012 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:271835 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017129
name: obsolete inherited cardiac tumor
def: "OBSOLETE. An instance of heart cancer that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:271841"}
synonym: "genetic cardiac tumor" RELATED [Orphanet:271841]
synonym: "genetic cardiac tumour" RELATED OMO:0003005 []
synonym: "genetic heart tumor" EXACT [Orphanet:271841]
synonym: "genetic heart tumour" EXACT OMO:0003005 []
synonym: "hereditary heart neoplasm" EXACT [MONDO:patterns/hereditary]
xref: GARD:21013 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:271841 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017130
name: obsolete genetic urogenital tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:271844"}
xref: GARD:21014 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:271844 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0017131
name: obsolete hereditary cardiac anomaly
subset: ordo_group_of_disorders {source="Orphanet:271853"}
subset: otar {source="MONDO:OTAR"}
synonym: "genetic cardiac anomaly" EXACT [Orphanet:271853]
xref: GARD:21016 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:271853 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017132
name: obsolete hereditary ATTR amyloidosis
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:21017 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7330" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007100

[Term]
id: MONDO:0017133
name: obsolete genetic systemic or rheumatologic disease
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3570" xsd:anyURI
is_obsolete: true
consider: MONDO:0000001

[Term]
id: MONDO:0017134
name: odonto-onycho dysplasia-alopecia syndrome
def: "Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985." [Orphanet:2722]
subset: gard_rare {source="GARD:4051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2722"}
subset: ordo_malformation_syndrome {source="Orphanet:2722"}
subset: orphanet_rare {source="Orphanet:2722"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "odonto onycho dysplasia with alopecia" RELATED [GARD:0004051]
xref: GARD:4051 {source="MONDO:GARD"}
xref: MEDGEN:1648007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2722 {source="MONDO:equivalentTo"}
xref: UMLS:C4706599 {source="MEDGEN:1648007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:2722"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0017135
name: olivopontocerebellar atrophy-deafness syndrome
def: "Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases." [Orphanet:2732]
subset: gard_rare {source="GARD:4070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2732"}
subset: ordo_malformation_syndrome {source="Orphanet:2732"}
subset: orphanet_rare {source="Orphanet:2732"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "olivopontocerebellar atrophy deafness" RELATED [GARD:0004070]
xref: GARD:4070 {source="MONDO:GARD"}
xref: MEDGEN:905095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2732 {source="MONDO:equivalentTo"}
xref: UMLS:C4275113 {source="MEDGEN:905095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0017136
name: omodysplasia
def: "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." [Orphanet:2733]
subset: gard_rare {source="GARD:16608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2733"}
subset: ordo_malformation_syndrome {source="Orphanet:2733"}
subset: orphanet_rare {source="Orphanet:2733"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0060288 {source="MONDO:equivalentTo"}
xref: GARD:16608 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:2733", source="Orphanet:2733/attributed", source="Orphanet:2733/ntbt"}
xref: MEDGEN:1388973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537746 {source="DOID:0060288"}
xref: MESH:C567664 {source="DOID:0060288"}
xref: OMIMPS:258315 {source="MONDO:equivalentTo"}
xref: Orphanet:2733 {source="DOID:0060288", source="MONDO:equivalentTo"}
xref: SCTID:725164008 {source="MONDO:equivalentTo"}
xref: UMLS:C4510897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388973"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:2729357", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0005516 {source="DOID:0060288", source="https://orcid.org/0000-0001-5208-3432"} ! osteochondrodysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:258315"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017137
name: onchocerciasis
def: "Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy." [Orphanet:2737]
subset: gard_rare {source="GARD:7252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2737"}
subset: orphanet_rare {source="Orphanet:2737"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infection by Onchocerca volvulus" EXACT []
synonym: "infection caused by Onchocerca volvulus" RELATED []
synonym: "Onchocerca volvulus infection" EXACT [DOID:11678]
synonym: "onchocerciasis" EXACT []
synonym: "onchocercosis" RELATED []
synonym: "River blindness" RELATED [GARD:0007252]
synonym: "Robles' disease" RELATED [GARD:0007252]
synonym: "volvulosis" EXACT [DOID:11678]
xref: DOID:11678 {source="EFO:0007402", source="MONDO:equivalentTo"}
xref: EFO:0007402 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7252 {source="MONDO:GARD"}
xref: ICD10CM:B73 {source="Orphanet:2737/e", source="DOID:11678", source="MONDO:equivalentTo", source="Orphanet:2737"}
xref: icd11.foundation:106136071 {source="MONDO:equivalentTo", source="Orphanet:2737"}
xref: ICD9:125.3 {source="DOID:11678"}
xref: MedDRA:10030314 {source="Orphanet:2737/e", source="Orphanet:2737"}
xref: MedDRA:10039202 {source="Orphanet:2737/e", source="Orphanet:2737"}
xref: MEDGEN:14477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009855 {source="Orphanet:2737/e", source="DOID:11678", source="EFO:0007402", source="MONDO:equivalentTo", source="Orphanet:2737"}
xref: MESH:D015827 {source="Orphanet:2737/e", source="Orphanet:2737"}
xref: NCIT:C34861 {source="DOID:11678", source="MONDO:equivalentTo"}
xref: Orphanet:2737 {source="MONDO:equivalentTo"}
xref: SCTID:38539003 {source="DOID:11678", source="MONDO:equivalentTo"}
xref: UMLS:C0029001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14477"}
is_a: MONDO:0005135 {source="DOID:11678/inferred", source="MESH:D009855/inferred", source="MONDO:Redundant", source="NCIT:C34861"} ! parasitic infectious disease
is_a: MONDO:0016075 {source="DOID:11678", source="MESH:D009855", source="Orphanet:2737"} ! filariasis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6282 ! Onchocerca volvulus
relationship: disease_has_feature HP:0000618 {source="MONDO:Wikidata"} ! Blindness
relationship: disease_has_feature HP:0000988 {source="MONDO:Wikidata"} ! Skin rash
relationship: disease_has_feature MONDO:0001941 {source="MONDO:Wikidata"} ! blindness (disorder)
relationship: disease_has_feature MONDO:0006547 {source="MONDO:Wikidata"} ! exanthem
relationship: disease_has_infectious_agent NCBITaxon:6282 {source="MONDO:Wikidata"} ! Onchocerca volvulus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis" xsd:anyURI {source="GARD:0007252"}

[Term]
id: MONDO:0017138
name: Opitz G/BBB syndrome
def: "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." [Orphanet:2745]
subset: gard_rare {source="GARD:193", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2745"}
subset: ordo_inheritance_inconsistent
subset: ordo_malformation_syndrome {source="Orphanet:2745"}
subset: orphanet_rare {source="Orphanet:2745"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BBB syndrome" RELATED [GARD:0000193]
synonym: "G syndrome" RELATED [GARD:0000193]
synonym: "GBBB syndrome" RELATED [GARD:0000193]
synonym: "hypertelorism hypospadias syndrome" RELATED [GARD:0000193]
synonym: "hypertelorism with esophageal abnormality and hypospadias" RELATED [GARD:0000193]
synonym: "hypertelorism-oesophageal abnormality-hypospadias syndrome" EXACT [Orphanet:2745]
synonym: "hypospadias-dysphagia syndrome" EXACT [Orphanet:2745]
synonym: "hypospadias-dysphagia, syndrome" RELATED [GARD:0000193]
synonym: "hypospadias-hypertelorism syndrome" EXACT [Orphanet:2745]
synonym: "Opitz BBBG syndrome" RELATED [GARD:0000193]
synonym: "Opitz G syndrome" EXACT [NCIT:C125487]
synonym: "Opitz G/BBB syndrome" EXACT [DOID:0050780]
synonym: "Opitz GBBB syndrome" EXACT [GARD:0000193, NCIT:C125487]
synonym: "Opitz syndrome" EXACT [Orphanet:2745]
synonym: "Opitz-Frias syndrome" EXACT [Orphanet:2745]
synonym: "Opitz-G syndrome, type 2" RELATED [GARD:0000193]
synonym: "Opitz-GBBB syndrome" EXACT [MONDO:0000449]
synonym: "telecanthus with associated abnormalities" RELATED [GARD:0000193]
xref: DOID:0050780 {source="MONDO:equivalentObsolete"}
xref: DOID:0080697 {source="MONDO:equivalentTo"}
xref: GARD:193 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2745", source="Orphanet:2745/attributed", source="Orphanet:2745/ntbt"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NCIT:C125487 {source="MONDO:equivalentTo"}
xref: OMIMPS:300000 {source="MONDO:equivalentObsolete", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2745 {source="MONDO:equivalentTo"}
xref: SCTID:81771002 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125487"} ! syndromic disease
is_a: MONDO:0008537 {source="Orphanet:2745"} ! telecanthus
is_a: MONDO:0015159 {source="Orphanet:2745"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2745", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300000"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7766" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome" xsd:anyURI {source="GARD:0000193"}

[Term]
id: MONDO:0017139
name: oromandibular-limb hypogenesis syndrome
def: "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)." [Orphanet:2749]
subset: disease_grouping
subset: gard_rare {source="GARD:4116", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:2749"}
subset: rare
synonym: "oro-mandibular-limb hypogenesis syndrome" RELATED [GARD:0004116]
synonym: "Oroacral syndrome" EXACT [Orphanet:2749]
xref: GARD:4116 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:2749/attributed", source="Orphanet:2749/ntbt", source="Orphanet:2749"}
xref: MEDGEN:1843329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2749 {source="MONDO:equivalentTo"}
xref: UMLS:C5679764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843329"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015498 {source="Orphanet:2749"} ! oromandibular-limb anomalies syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017140
name: L1 syndrome
def: "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis." [Orphanet:275543]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1343"}
subset: ordo_disorder {source="Orphanet:275543"}
subset: ordo_malformation_syndrome {source="Orphanet:275543"}
subset: orphanet_rare {source="Orphanet:275543"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome" EXACT [Orphanet:275543]
synonym: "CRASH syndrome" EXACT [Orphanet:275543]
synonym: "L1 syndrome" EXACT CLINGEN_LABEL []
synonym: "L1CAM syndrome" EXACT [Orphanet:275543]
xref: GARD:12524 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:275543", source="Orphanet:275543/attributed", source="Orphanet:275543/ntbt"}
xref: MEDGEN:1830362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1343 {source="MONDO:NORD"}
xref: Orphanet:275543 {source="MONDO:equivalentTo"}
xref: UMLS:C5779710 {source="MEDGEN:1830362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:275543", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017141
name: obsolete hemorrhagic disorder due to a constitutional thrombocytopenia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:275729"}
synonym: "rare bleeding disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729]
synonym: "rare bleeding disorder due to a quantitative platelet defect" EXACT [Orphanet:275729]
synonym: "rare coagulopathy due to a constitutional thrombocytopenia" EXACT [Orphanet:275729]
synonym: "rare coagulopathy due to a quantitative platelet defect" EXACT [Orphanet:275729]
synonym: "rare hemorrhagic disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729]
synonym: "rare hemorrhagic disorder due to a quantitative platelet defect" EXACT [Orphanet:275729]
xref: GARD:21019 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:275729 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0002243

[Term]
id: MONDO:0017142
name: obsolete hemorrhagic disorder due to a qualitative platelet defect
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:275736"}
synonym: "rare bleeding disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736]
synonym: "rare bleeding disorder due to a qualitative platelet defect" EXACT [Orphanet:275736]
synonym: "rare coagulopathy due to a constitutional thrombopathy" EXACT [Orphanet:275736]
synonym: "rare coagulopathy due to a qualitative platelet defect" EXACT [Orphanet:275736]
synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736]
synonym: "rare hemorrhagic disorder due to a qualitative platelet defect" EXACT [Orphanet:275736]
xref: GARD:21020 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D69.8 {source="Orphanet:275736/attributed", source="Orphanet:275736/ntbt", source="Orphanet:275736"}
xref: Orphanet:275736 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017143
name: obsolete genetic infertility
def: "OBSOLETE. Genetic infertility." []
subset: ordo_group_of_disorders {source="Orphanet:275742"}
synonym: "genetic infertility" EXACT [MONDO:patterns/genetic]
synonym: "hereditary infertility disorder" EXACT [MONDO:patterns/hereditary]
xref: GARD:21021 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:275742 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0005047

[Term]
id: MONDO:0017144
name: obsolete alpha-thalassemia and related diseases
subset: ordo_group_of_disorders {source="Orphanet:275745"}
xref: GARD:21022 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D56.0 {source="Orphanet:275745/attributed", source="Orphanet:275745/ntbt", source="Orphanet:275745"}
xref: Orphanet:275745 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017145
name: beta-thalassemia and related diseases
subset: disease_grouping
subset: gard_rare {source="GARD:21023", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:275749"}
subset: rare
xref: GARD:21023 {source="MONDO:GARD"}
xref: ICD10CM:D56.1 {source="Orphanet:275749/attributed", source="Orphanet:275749/ntbt", source="Orphanet:275749"}
xref: MEDGEN:1826095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:275749 {source="MONDO:equivalentTo"}
xref: UMLS:C5680748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826095"}
is_a: MONDO:0002280 {source="Orphanet:275749", source="Orphanet:275749/inferred"} ! anemia
is_a: MONDO:0019050 {source="Orphanet:275749", source="Orphanet:275749/inferred"} ! inherited hemoglobinopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare

[Term]
id: MONDO:0017146
name: obsolete sickle cell disease and related diseases
subset: clingen {source="MONDO:CLINGEN"}
subset: ordo_group_of_disorders {source="Orphanet:275752"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:21024 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D57.0 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"}
xref: ICD10CM:D57.1 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"}
xref: ICD10CM:D57.2 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"}
xref: ICD10CM:D57.3 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"}
xref: ICD10CM:D57.8 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"}
xref: Orphanet:275752 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017147
name: idiopathic pulmonary arterial hypertension
def: "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH." [Orphanet:275766]
subset: gard_rare {source="GARD:21025", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:275766"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:275766"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IPAH" EXACT ABBREVIATION [Orphanet:275766]
synonym: "primary pulmonary arterial hypertension" EXACT [Orphanet:275766]
xref: GARD:21025 {source="MONDO:GARD"}
xref: ICD10CM:I27.0 {source="Orphanet:275766", source="Orphanet:275766/attributed", source="Orphanet:275766/ntbt"}
xref: ICD9:416.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10065151 {source="Orphanet:275766", source="Orphanet:275766/e"}
xref: MEDGEN:468368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201046 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:275766 {source="MONDO:equivalentTo"}
xref: SCTID:697898008 {source="MONDO:equivalentTo"}
xref: UMLS:C3203102 {source="MEDGEN:468368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015924 {source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary arterial hypertension
relationship: has_characteristic MONDO:0700005 {source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic

[Term]
id: MONDO:0017148
name: heritable pulmonary arterial hypertension
def: "Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal." [Orphanet:275777]
subset: gard_rare {source="GARD:11914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:275777"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:275777"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial pulmonary arterial hypertension" EXACT [Orphanet:275777]
synonym: "FPAH" EXACT ABBREVIATION [Orphanet:275777]
synonym: "hereditary pulmonary arterial hypertension" EXACT [MONDO:patterns/hereditary, Orphanet:275777]
synonym: "HpaH" EXACT [Orphanet:275777]
xref: GARD:11914 {source="MONDO:GARD"}
xref: ICD10CM:I27.0 {source="Orphanet:275777", source="Orphanet:275777/attributed", source="Orphanet:275777/ntbt"}
xref: MEDGEN:90953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201047 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C121945 {source="MONDO:equivalentTo"}
xref: OMIMPS:178600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:275777 {source="MONDO:equivalentTo"}
xref: SCTID:697897003 {source="MONDO:equivalentTo"}
xref: UMLS:C0340543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90953"}
intersection_of: MONDO:0015924 ! pulmonary arterial hypertension
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:178600"} ! inherited

[Term]
id: MONDO:0017149
name: drug- or toxin-induced pulmonary arterial hypertension
def: "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." [Orphanet:275786]
subset: disease_grouping
subset: gard_rare {source="GARD:21026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:275786"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "drug- or toxin-induced PAH" EXACT [Orphanet:275786]
xref: EFO:0009192 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21026 {source="MONDO:GARD"}
xref: ICD10CM:I27.2 {source="Orphanet:275786", source="Orphanet:275786/ntbt"}
xref: MEDGEN:573792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:275786 {source="MONDO:equivalentTo"}
xref: UMLS:C0340544 {source="MEDGEN:573792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015924 {source="Orphanet:275786"} ! pulmonary arterial hypertension

[Term]
id: MONDO:0017150
name: obsolete pulmonary arterial hypertension associated with another disease
def: "OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." [Orphanet:275791]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension'
subset: ordo_group_of_disorders {source="Orphanet:275791"}
synonym: "PAH associated with another disease" EXACT [Orphanet:275791]
synonym: "secondary PAH" EXACT [Orphanet:275791]
xref: GARD:21027 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I27.2 {source="Orphanet:275791", source="Orphanet:275791/ntbt"}
xref: NANDO:2201048 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:275791 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015924

[Term]
id: MONDO:0017151
name: obsolete pulmonary arterial hypertension associated with connective tissue disease
def: "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." [Orphanet:275798]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension'
subset: ordo_group_of_disorders {source="Orphanet:275798"}
synonym: "PAH associated with connective tissue disease" EXACT [Orphanet:275798]
xref: GARD:21028 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I27.2 {source="Orphanet:275798", source="Orphanet:275798/ntbt"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:275798 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:697903007 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015924

[Term]
id: MONDO:0017152
name: obsolete pulmonary arterial hypertension associated with congenital heart disease
def: "OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." [Orphanet:275803]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension'
subset: ordo_group_of_disorders {source="Orphanet:275803"}
synonym: "PAH associated with congenital heart disease" EXACT [Orphanet:275803]
xref: GARD:21029 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I27.2 {source="Orphanet:275803/ntbt", source="Orphanet:275803"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:275803 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:697905000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015924

[Term]
id: MONDO:0017153
name: obsolete pulmonary arterial hypertension associated with HIV infection
def: "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." [Orphanet:275808]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension'
subset: ordo_group_of_disorders {source="Orphanet:275808"}
synonym: "PAH associated with HIV infaction" EXACT [Orphanet:275808]
xref: GARD:21030 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I27.2 {source="Orphanet:275808/ntbt", source="Orphanet:275808"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:275808 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:697904001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015924

[Term]
id: MONDO:0017154
name: obsolete pulmonary arterial hypertension associated with portal hypertension
def: "OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." [Orphanet:275813]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension'
subset: ordo_group_of_disorders {source="Orphanet:275813"}
synonym: "PAH associated with portal hypertension" EXACT [Orphanet:275813]
synonym: "POPH" EXACT ABBREVIATION [Orphanet:275813]
synonym: "Portopulmonary hypertension" EXACT [Orphanet:275813]
xref: GARD:21031 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I27.2 {source="Orphanet:275813/ntbt", source="Orphanet:275813"}
xref: Orphanet:275813 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:445237003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015924

[Term]
id: MONDO:0017155
name: obsolete pulmonary arterial hypertension associated with schistosomiasis
def: "OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis." [Orphanet:275823]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension'
subset: ordo_group_of_disorders {source="Orphanet:275823"}
synonym: "PAH associated with schistosomiasis" EXACT [Orphanet:275823]
xref: GARD:21032 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I27.2 {source="Orphanet:275823", source="Orphanet:275823/ntbt"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:275823 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:697907008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015924

[Term]
id: MONDO:0017156
name: obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia
def: "OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." [Orphanet:275828]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension'
subset: ordo_group_of_disorders {source="Orphanet:275828"}
synonym: "PAH associated with chronic hemolytic anemia" EXACT [Orphanet:275828]
xref: GARD:21033 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I27.2 {source="Orphanet:275828", source="Orphanet:275828/ntbt"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:275828 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:697908003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015924

[Term]
id: MONDO:0017157
name: pulmonary hypertension owing to lung disease and/or hypoxia
subset: disease_grouping
subset: gard_rare {source="GARD:21034", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:275837"}
subset: rare
synonym: "PH due to lung disease and/or hypoxia" EXACT [Orphanet:275837]
synonym: "PH owing to lung disease and/or hypoxia" EXACT [Orphanet:275837]
synonym: "pulmonary hypertension due to lung disease and/or hypoxia" EXACT [Orphanet:275837]
xref: GARD:21034 {source="MONDO:GARD"}
xref: ICD10CM:I27.2 {source="Orphanet:275837/ntbt", source="Orphanet:275837"}
xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:785400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:275837 {source="MONDO:equivalentTo"}
xref: SCTID:697910001 {source="MONDO:equivalentTo"}
xref: UMLS:C3698136 {source="MEDGEN:785400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005149 {source="Orphanet:275837"} ! pulmonary hypertension
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019096"} ! rare

[Term]
id: MONDO:0017158
name: obsolete pulmonary hypertension with unclear multifactorial mechanism
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension'
subset: ordo_group_of_disorders {source="Orphanet:275844"}
synonym: "PH with unclear multifactorial mechanism" EXACT [Orphanet:275844]
xref: GARD:21035 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:275844 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015924

[Term]
id: MONDO:0017159
name: obsolete syndrome with pulmonary hypertension as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:275853"}
xref: GARD:21036 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:275853 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017160
name: behavioral variant of frontotemporal dementia
def: "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." [Orphanet:275864]
subset: gard_rare {source="GARD:7392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:275864"}
subset: orphanet_rare {source="Orphanet:275864"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bv-FTD" EXACT [Orphanet:275864]
xref: GARD:7392 {source="MONDO:GARD"}
xref: ICD10CM:G31.0 {source="Orphanet:275864", source="Orphanet:275864/attributed", source="Orphanet:275864/ntbt"}
xref: MEDGEN:860225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200549 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:275864 {source="MONDO:equivalentTo"}
xref: SCTID:716994006 {source="MONDO:equivalentTo"}
xref: UMLS:C4011788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860225"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0017276 {source="Orphanet:275864"} ! frontotemporal dementia
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0017161
name: frontotemporal dementia with motor neuron disease
def: "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset." [Orphanet:275872]
subset: gard_rare {source="GARD:17273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:275872"}
subset: orphanet_rare {source="Orphanet:275872"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "frontotemporal dementia with ALS" EXACT [PMID:21222600]
synonym: "frontotemporal dementia with amyotrophic lateral sclerosis" EXACT [Orphanet:275872]
synonym: "FTD-ALS" EXACT [Orphanet:275872]
synonym: "FTD-MND" EXACT [Orphanet:275872]
synonym: "FTDALS" EXACT ABBREVIATION [MONDO:0000712]
xref: GARD:17273 {source="MONDO:GARD"}
xref: MESH:C566288 {source="MONDO:equivalentTo"}
xref: OMIMPS:105550 {source="MONDO:equivalentTo"}
xref: Orphanet:275872 {source="MONDO:equivalentTo"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0005559 ! neurodegenerative disease
is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:275872", source="Orphanet:275872/inferred"} ! hereditary dementia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:275872", source="Orphanet:275872/inferred"} ! inherited neurodegenerative disorder
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: disease_has_feature HP:0002145 ! Frontotemporal dementia
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105550"} ! inherited

[Term]
id: MONDO:0017162
name: imperforate oropharynx-costo vetebral anomalies syndrome
def: "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." [Orphanet:2759]
subset: gard_rare {source="GARD:2989", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2759"}
subset: ordo_malformation_syndrome {source="Orphanet:2759"}
subset: orphanet_rare {source="Orphanet:2759"}
subset: rare
synonym: "imperforate oropharynx-costo vetebral anomalies" RELATED [GARD:0002989]
synonym: "imperforate oropharynx-costovertebral anomalies syndrome" RELATED [Orphanet:2759]
synonym: "Seghers syndrome" EXACT [Orphanet:2759]
xref: GARD:2989 {source="MONDO:GARD"}
xref: MEDGEN:1663228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2759 {source="MONDO:equivalentTo"}
xref: UMLS:C4749770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1663228"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:2929659", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017163
name: obsolete hemolytic disease due to fetomaternal alloimmunization
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia'
subset: ordo_group_of_disorders {source="Orphanet:275938"}
synonym: "hemolytic disease of the fetus and newborn" EXACT [Orphanet:275938]
xref: GARD:21037 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:P55.0 {source="Orphanet:275938", source="Orphanet:275938/btnt"}
xref: ICD10CM:P55.1 {source="Orphanet:275938", source="Orphanet:275938/btnt"}
xref: ICD10CM:P55.8 {source="Orphanet:275938", source="Orphanet:275938/btnt"}
xref: ICD10CM:P55.9 {source="Orphanet:275938", source="Orphanet:275938/btnt"}
xref: Orphanet:275938 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003664

[Term]
id: MONDO:0017164
name: hemolytic disease of the newborn with Kell alloimmunization
subset: gard_rare {source="GARD:21038", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:275944"}
subset: orphanet_rare {source="Orphanet:275944"}
subset: rare
synonym: "anti-K HDN" EXACT [Orphanet:275944]
synonym: "maternal anti-Kell alloimmunization" EXACT [Orphanet:275944]
xref: GARD:21038 {source="MONDO:GARD"}
xref: ICD10CM:P55.8 {source="Orphanet:275944", source="Orphanet:275944/ntbt"}
xref: MEDGEN:632769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:275944 {source="MONDO:equivalentTo"}
xref: UMLS:C0472751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:632769"}
is_a: MONDO:0003664 {source="Orphanet:275944"} ! hemolytic anemia

[Term]
id: MONDO:0017165
name: bile acid CoA ligase deficiency and defective amidation
def: "Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure." [Orphanet:276066]
subset: gard_rare {source="GARD:21041", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276066"}
subset: orphanet_rare {source="Orphanet:276066"}
subset: rare
xref: GARD:21041 {source="MONDO:GARD"}
xref: MEDGEN:905864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276066 {source="MONDO:equivalentTo"}
xref: SCTID:717047007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905864"}
is_a: MONDO:0019218 {source="Orphanet:276066"} ! inborn disorder of bile acid synthesis

[Term]
id: MONDO:0017166
name: obsolete rare tumor of salivary glands
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:276142"}
xref: GARD:21042 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:276142 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017167
name: malignant epithelial tumor of salivary glands
subset: gard_rare {source="GARD:21043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276145"}
subset: orphanet_rare {source="Orphanet:276145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant epithelial tumor of the salivary glands" RELATED [Orphanet:276145]
synonym: "malignant epithelial tumour of the salivary glands" RELATED OMO:0003005 []
xref: GARD:21043 {source="MONDO:GARD"}
xref: ICD10CM:C07 {source="Orphanet:276145", source="Orphanet:276145/btnt"}
xref: ICD10CM:C08.0 {source="Orphanet:276145", source="Orphanet:276145/btnt"}
xref: ICD10CM:C08.1 {source="Orphanet:276145", source="Orphanet:276145/btnt"}
xref: MEDGEN:1674486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276145 {source="MONDO:equivalentTo"}
xref: UMLS:C5190832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674486"}
is_a: MONDO:0005586 {source="MONDO:0017166-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0021223 {source="MONDO:0017166-obsoleted"} ! digestive system neoplasm

[Term]
id: MONDO:0017168
name: benign epithelial tumor of salivary glands
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276148"}
subset: orphanet_rare {source="Orphanet:276148"}
subset: rare
xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="Orphanet:276148", source="Orphanet:276148/btnt"}
xref: ICD10CM:D11.7 {source="Orphanet:276148", source="Orphanet:276148/btnt"}
xref: MEDGEN:1684009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276148 {source="MONDO:equivalentTo"}
xref: UMLS:C5190858 {source="MEDGEN:1684009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:0017166-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0021223 {source="MONDO:0017166-obsoleted"} ! digestive system neoplasm

[Term]
id: MONDO:0017169
name: multiple endocrine neoplasia
def: "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs." [Orphanet:276161]
subset: disease_grouping
subset: gard_rare {source="GARD:21044", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:276161"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEN" EXACT ABBREVIATION [NCIT:C6432, Orphanet:276161]
synonym: "men syndrome" EXACT [NCIT:C6432]
synonym: "men syndromes" EXACT [NCIT:C6432]
synonym: "multiple endocrine adenomatosis" EXACT [NCIT:C6432]
synonym: "multiple endocrine neoplasia" EXACT [NCIT:C6432]
synonym: "multiple endocrine neoplasia syndrome" EXACT [NCIT:C6432]
synonym: "multiple endocrine neoplasia syndrome(s)" EXACT [NCIT:C6432]
xref: DOID:3125 {source="MONDO:equivalentTo"}
xref: GARD:21044 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="Orphanet:276161/ntbt", source="Orphanet:276161/inclusion", source="Orphanet:276161"}
xref: ICD9:258.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:8360/1 {source="NCIT:C6432"}
xref: MedDRA:10061299 {source="Orphanet:276161/e", source="Orphanet:276161"}
xref: MEDGEN:45036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009377 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:2100148 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6432 {source="MONDO:equivalentTo"}
xref: OMIMPS:131100 {source="MONDO:equivalentTo"}
xref: Orphanet:276161 {source="MONDO:equivalentTo"}
xref: SCTID:46724008 {source="MONDO:equivalentTo"}
xref: UMLS:C0027662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45036"}
is_a: MONDO:0015079 {source="Orphanet:276161"} ! multiple polyglandular tumor
is_a: MONDO:0015356 {source="https://orcid.org/0000-0002-0736-9199"} ! hereditary neoplastic syndrome
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: disease_has_feature MONDO:0002082 {source="NCIT:C6432"} ! endocrine gland neoplasm
relationship: excluded_subClassOf MONDO:0021058 {source="NCIT:C6432", source="https://orcid.org/0000-0001-5208-3432"} ! neoplastic syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:131100"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5653" xsd:anyURI

[Term]
id: MONDO:0017170
name: idiopathic recurrent stupor
def: "Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes." [Orphanet:276174]
subset: gard_rare {source="GARD:21045", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276174"}
subset: orphanet_rare {source="Orphanet:276174"}
subset: rare
xref: GARD:21045 {source="MONDO:GARD"}
xref: MEDGEN:1645620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276174 {source="MONDO:equivalentTo"}
xref: SCTID:763739002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706562 {source="MEDGEN:1645620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="Orphanet:276174"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0017171
name: mucopolysaccharidosis type 6, rapidly progressing
subset: gard_rare {source="GARD:21046", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:276212"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arylsulfatase B deficiency, rapidly progressing" EXACT [Orphanet:276212]
synonym: "MPS6, rapidly progressing" EXACT [Orphanet:276212]
synonym: "MPSVI, rapidly progressing" EXACT [Orphanet:276212]
synonym: "mucopolysaccharidosis type VI, rapidly progressing" EXACT [Orphanet:276212]
xref: GARD:21046 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:276212/attributed", source="Orphanet:276212/ntbt", source="Orphanet:276212"}
xref: MEDGEN:1842485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276212 {source="MONDO:equivalentTo"}
xref: UMLS:C5679781 {source="MEDGEN:1842485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009661 {source="Orphanet:276212"} ! mucopolysaccharidosis type 6

[Term]
id: MONDO:0017172
name: mucopolysaccharidosis type 6, slowly progressing
subset: gard_rare {source="GARD:21047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:276223"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arylsulfatase B deficiency, slowly progressing" EXACT [Orphanet:276223]
synonym: "MPS6, slowly progressing" EXACT [Orphanet:276223]
synonym: "MPSVI, slowly progressing" EXACT [Orphanet:276223]
synonym: "mucopolysaccharidosis type VI, slowly progressing" EXACT [Orphanet:276223]
xref: GARD:21047 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:276223/attributed", source="Orphanet:276223/ntbt", source="Orphanet:276223"}
xref: MEDGEN:1842694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276223 {source="MONDO:equivalentTo"}
xref: UMLS:C5679780 {source="MEDGEN:1842694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009661 {source="Orphanet:276223"} ! mucopolysaccharidosis type 6

[Term]
id: MONDO:0017173
name: obsolete non-syndromic male infertility due to sperm motility disorder
def: "OBSOLETE. Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present." [Orphanet:276234]
subset: ordo_disorder {source="Orphanet:276234"}
subset: otar {source="MONDO:OTAR"}
synonym: "isolated male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "non-syndromic male infertility due asthenozoospermia" EXACT [Orphanet:276234]
synonym: "nonsyndromic male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:17277 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:276234/attributed", source="Orphanet:276234/ntbt", source="Orphanet:276234"}
xref: Orphanet:276234 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017174
name: Machado-Joseph disease type 1
def: "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs." [Orphanet:276238]
subset: gard_rare {source="GARD:21048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:276238"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "azorean disease, type i" EXACT []
synonym: "SCA3, Joseph type" EXACT [Orphanet:276238]
synonym: "spinocerebellar ataxia type 3, Joseph type" EXACT [Orphanet:276238]
xref: GARD:21048 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:276238", source="Orphanet:276238/attributed", source="Orphanet:276238/ntbt"}
xref: MEDGEN:155610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276238 {source="MONDO:equivalentTo"}
xref: SCTID:91953003 {source="MONDO:equivalentTo"}
xref: UMLS:C0751668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155610"}
is_a: MONDO:0007182 {source="Orphanet:276238"} ! Machado-Joseph disease

[Term]
id: MONDO:0017175
name: Machado-Joseph disease type 2
def: "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." [Orphanet:276241]
subset: gard_rare {source="GARD:21049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:276241"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "azorean disease, type ii" EXACT []
synonym: "SCA3, Thomas type" EXACT [Orphanet:276241]
synonym: "spinocerebellar ataxia, Thomas type" EXACT [Orphanet:276241]
xref: GARD:21049 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:276241", source="Orphanet:276241/attributed", source="Orphanet:276241/ntbt"}
xref: MEDGEN:199707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276241 {source="MONDO:equivalentTo"}
xref: SCTID:91954009 {source="MONDO:equivalentTo"}
xref: UMLS:C0751669 {source="MEDGEN:199707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007182 {source="Orphanet:276241"} ! Machado-Joseph disease

[Term]
id: MONDO:0017176
name: Machado-Joseph disease type 3
def: "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." [Orphanet:276244]
subset: gard_rare {source="GARD:21050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:276244"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "azorean disease, type iii" EXACT []
synonym: "SCA3, Machado type" EXACT [Orphanet:276244]
synonym: "spinocerebellar ataxia type 3, Machado type" EXACT [Orphanet:276244]
xref: GARD:21050 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:276244", source="Orphanet:276244/attributed", source="Orphanet:276244/ntbt"}
xref: MEDGEN:155611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276244 {source="MONDO:equivalentTo"}
xref: SCTID:91955005 {source="MONDO:equivalentTo"}
xref: UMLS:C0751670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155611"}
is_a: MONDO:0007182 {source="Orphanet:276244"} ! Machado-Joseph disease

[Term]
id: MONDO:0017177
name: hemihyperplasia-multiple lipomatosis syndrome
def: "A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." [https://orcid.org/0000-0001-5208-3432, Orphanet:276280]
subset: gard_rare {source="GARD:21051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276280"}
subset: ordo_malformation_syndrome {source="Orphanet:276280"}
subset: orphanet_rare {source="Orphanet:276280"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HHML" EXACT ABBREVIATION [Orphanet:276280]
xref: GARD:21051 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:276280", source="Orphanet:276280/attributed", source="Orphanet:276280/ntbt"}
xref: MEDGEN:1651269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276280 {source="MONDO:equivalentTo"}
xref: UMLS:C4749904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1651269"}
is_a: MONDO:0019716 {source="Orphanet:276280"} ! overgrowth syndrome
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:276280", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: excluded_subClassOf MONDO:0018719 {source="Orphanet:276280", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete obsolete rare capillary malformation with associated anomalies
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:276280", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5210" xsd:anyURI

[Term]
id: MONDO:0017178
name: osteochondritis dissecans
def: "A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis." [Orphanet:2764]
subset: gard_rare {source="GARD:12703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:111730"}
subset: ordo_disorder {source="Orphanet:2764"}
subset: orphanet_rare {source="Orphanet:2764"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial osteochondritis dissecans" NARROW [Orphanet:251262]
synonym: "Koenig disease" EXACT [Orphanet:2764]
synonym: "Konig disease" EXACT [Orphanet:2764]
synonym: "König disease" EXACT [Orphanet:2764]
synonym: "OCD" EXACT ABBREVIATION [DOID:84]
synonym: "OD" EXACT ABBREVIATION [MONDO:Lexical]
synonym: "osteochondritis dissecans" EXACT [MONDO:ambiguous]
synonym: "osteochondritis dissecans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "osteochondritis dissecans and short stature" RELATED [Orphanet:251262]
synonym: "osteochondritis dissecans, short stature, and early-onset osteoarthritis" RELATED [MONDO:Lexical, OMIM:165800]
synonym: "short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans" RELATED [OMIM:165800]
synonym: "SSOAOD" RELATED ABBREVIATION [OMIM:165800]
xref: DOID:84 {source="MONDO:equivalentTo"}
xref: GARD:12703 {source="MONDO:GARD"}
xref: HP:0010886 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M93.2 {source="Orphanet:251262/attributed", source="Orphanet:251262/ntbt", source="Orphanet:251262", source="Orphanet:2764", source="Orphanet:2764/e", source="DOID:84"}
xref: ICD10CM:M93.9 {source="DOID:84"}
xref: ICD9:732.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:84"}
xref: MedDRA:10031231 {source="Orphanet:2764", source="Orphanet:2764/e"}
xref: MEDGEN:10494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010007 {source="DOID:84"}
xref: MESH:D010008 {source="Orphanet:2764", source="MONDO:equivalentTo", source="Orphanet:2764/e", source="DOID:84"}
xref: NCIT:C34877 {source="DOID:84"}
xref: NCIT:C34878 {source="MONDO:equivalentTo", source="DOID:84"}
xref: NORD:111730 {source="MONDO:NORD"}
xref: Orphanet:251262 {source="MONDO:directSiblingOf", source="OMIM:165800"}
xref: Orphanet:2764 {source="MONDO:equivalentTo"}
xref: SCTID:156821002 {source="DOID:84"}
xref: SCTID:156822009 {source="DOID:84"}
xref: SCTID:203424002 {source="DOID:84"}
xref: SCTID:203425001 {source="DOID:84"}
xref: SCTID:268027006 {source="DOID:84"}
xref: SCTID:268125000 {source="DOID:84"}
xref: SCTID:70736000 {source="DOID:84"}
xref: SCTID:82562007 {source="MONDO:equivalentTo", source="DOID:84"}
xref: UMLS:C0029421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10494"}
is_a: MONDO:0005380 {source="DOID:84", source="MONDO:Redundant", source="Orphanet:251262", source="Orphanet:2764"} ! osteonecrosis
is_a: MONDO:0018383 {source="MONDO:Redundant", source="Orphanet:251262"} ! osteonecrosis of genetic origin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/319 {source="MONDO:mim2gene_medgen"} ! ACAN
property_value: IAO:0000589 "osteochondritis dissecans (disease)" xsd:string

[Term]
id: MONDO:0017179
name: limbic encephalitis with caspr2 antibodies
def: "Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia." [Orphanet:276402]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:G13.1 {source="Orphanet:276402", source="Orphanet:276402/ntbt"}
xref: MEDGEN:1634906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276402 {source="MONDO:equivalentObsolete"}
xref: SCTID:763793004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706582 {source="MEDGEN:1634906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015588 {source="https://orcid.org/0000-0001-5208-3432"} ! limbic encephalitis

[Term]
id: MONDO:0017180
name: 10q22.3q23.3 microduplication syndrome
subset: gard_rare {source="GARD:21052", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276422"}
subset: ordo_malformation_syndrome {source="Orphanet:276422"}
subset: orphanet_rare {source="Orphanet:276422"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dup(10)(q22.3q23.3)" EXACT [Orphanet:276422]
synonym: "trisomy 10q22.3q23.3" EXACT [Orphanet:276422]
xref: GARD:21052 {source="MONDO:GARD"}
xref: MEDGEN:1682781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276422 {source="MONDO:equivalentTo"}
xref: UMLS:C5190512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682781"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016961 {source="Orphanet:276422"} ! partial duplication of the long arm of chromosome 10
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr10q22.3-q23.3 ! 10q22.3-q23.3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017181
name: hypnic headache
def: "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes." [MESH:D051270]
subset: gard_rare {source="GARD:10796", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276429"}
subset: orphanet_rare {source="Orphanet:276429"}
subset: rare
synonym: "hypnic headache" EXACT [MONDO:ambiguous]
synonym: "hypnic headache (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:10796 {source="MONDO:GARD"}
xref: HP:0012459 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G44.8 {source="Orphanet:276429/ntbt", source="Orphanet:276429"}
xref: ICD9:339.81 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:156012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D051270 {source="MONDO:equivalentTo"}
xref: Orphanet:276429 {source="MONDO:equivalentTo"}
xref: SCTID:122711000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C0752150 {source="MEDGEN:156012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021146 {source="Orphanet:276429"} ! headache disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020011"} ! rare
property_value: IAO:0000589 "hypnic headache (disease)" xsd:string

[Term]
id: MONDO:0017182
name: familial hyperinsulinism
def: "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:21053", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:276525"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hyperinsulinism" EXACT [NCIT:C131425]
synonym: "familial hyperinsulinemic hypoglycemia" EXACT [Orphanet:276525]
synonym: "FHI" EXACT ABBREVIATION [Orphanet:276525]
synonym: "hereditary hyperinsulinism (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "HHI" EXACT ABBREVIATION [NCIT:C131425]
synonym: "hyperinsulinemia of infancy" EXACT [NCIT:C131425]
synonym: "hyperinsulinemic hypoglycemia" BROAD [NCIT:C131425]
synonym: "neonatal hyperinsulinism" EXACT [NCIT:C131425]
synonym: "nesidioblastosis" EXACT [NCIT:C131425]
xref: GARD:21053 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:276525", source="Orphanet:276525/attributed", source="Orphanet:276525/ntbt"}
xref: MEDGEN:854723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100143 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200399 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131425 {source="MONDO:equivalentTo"}
xref: Orphanet:276525 {source="MONDO:equivalentTo"}
xref: UMLS:C3888018 {source="MONDO:equivalentTo", source="MEDGEN:854723", source="MONDO:MEDGEN"}
is_a: MONDO:0001933 {source="NCIT:C131425"} ! endocrine pancreas disorder
is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:276525"} ! endocrine system disorder
is_a: MONDO:0005803 {source="Orphanet:276525"} ! hyperinsulinemic hypoglycemia
intersection_of: MONDO:0002177 ! hyperinsulinism
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare

[Term]
id: MONDO:0017183
name: hyperinsulinism due to UCP2 deficiency
def: "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution." [Orphanet:276556]
subset: gard_rare {source="GARD:21054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276556"}
subset: orphanet_rare {source="Orphanet:276556"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperinsulinemic hypoglycemia due to UCP2 deficiency" EXACT [Orphanet:276556]
xref: GARD:21054 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:276556", source="Orphanet:276556/attributed", source="Orphanet:276556/ntbt"}
xref: MEDGEN:928751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276556 {source="MONDO:equivalentTo"}
xref: SCTID:721834007 {source="MONDO:equivalentTo"}
xref: UMLS:C4303082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928751"}
is_a: MONDO:0015624 {source="Orphanet:276556"} ! diazoxide-sensitive diffuse hyperinsulinism

[Term]
id: MONDO:0017184
name: autosomal dominant hyperinsulinism due to SUR1 deficiency
def: "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)." [Orphanet:276575]
subset: gard_rare {source="GARD:17283", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276575"}
subset: orphanet_rare {source="Orphanet:276575"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:276575]
xref: GARD:17283 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:276575/attributed", source="Orphanet:276575/ntbt", source="Orphanet:276575"}
xref: MEDGEN:900764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276575 {source="MONDO:equivalentTo"}
xref: SCTID:717046003 {source="MONDO:equivalentTo"}
xref: UMLS:C4274080 {source="MEDGEN:900764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005803 {source="https://orcid.org/0000-0002-6601-2165"} ! hyperinsulinemic hypoglycemia
is_a: MONDO:0015624 {source="Orphanet:276575"} ! diazoxide-sensitive diffuse hyperinsulinism

[Term]
id: MONDO:0017185
name: autosomal dominant hyperinsulinism due to Kir6.2 deficiency
def: "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)." [Orphanet:276580]
subset: gard_rare {source="GARD:17284", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276580"}
subset: orphanet_rare {source="Orphanet:276580"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:276580]
synonym: "dominant KATP hyperinsulinism due to Kir6.2 deficiency" EXACT [Orphanet:276580]
xref: GARD:17284 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:276580/attributed", source="Orphanet:276580/ntbt", source="Orphanet:276580"}
xref: MEDGEN:903936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276580 {source="MONDO:equivalentTo"}
xref: SCTID:717045004 {source="MONDO:equivalentTo"}
xref: UMLS:C4274081 {source="MEDGEN:903936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2
is_a: MONDO:0015624 {source="Orphanet:276580"} ! diazoxide-sensitive diffuse hyperinsulinism

[Term]
id: MONDO:0017186
name: diazoxide-resistant hyperinsulinism
def: "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide." [Orphanet:276585]
subset: disease_grouping
subset: gard_rare {source="GARD:21055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:276585"}
subset: rare
synonym: "diazoxide-resistant hyperinsulinemic hypoglycemia" EXACT [Orphanet:276585]
xref: GARD:21055 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:276585", source="Orphanet:276585/attributed", source="Orphanet:276585/ntbt"}
xref: MEDGEN:1842507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276585 {source="MONDO:equivalentTo"}
xref: UMLS:C5679778 {source="MEDGEN:1842507", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019010 {source="Orphanet:276585"} ! congenital isolated hyperinsulinism

[Term]
id: MONDO:0017187
name: diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
subset: gard_rare {source="GARD:17285", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276598"}
subset: orphanet_rare {source="Orphanet:276598"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form" EXACT [Orphanet:276598]
xref: GARD:17285 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:276598/attributed", source="Orphanet:276598/ntbt", source="Orphanet:276598"}
xref: MEDGEN:1683284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276598 {source="MONDO:equivalentTo"}
xref: UMLS:C5191059 {source="MEDGEN:1683284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009734 ! hyperinsulinemic hypoglycemia, familial, 1
is_a: MONDO:0019265 {source="Orphanet:276598"} ! diazoxide-resistant focal hyperinsulinism

[Term]
id: MONDO:0017188
name: diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
subset: gard_rare {source="GARD:17286", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276603"}
subset: orphanet_rare {source="Orphanet:276603"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form" EXACT [Orphanet:276603]
xref: GARD:17286 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:276603/attributed", source="Orphanet:276603/ntbt", source="Orphanet:276603"}
xref: MEDGEN:1673560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276603 {source="MONDO:equivalentTo"}
xref: UMLS:C5191060 {source="MEDGEN:1673560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2
is_a: MONDO:0019265 {source="Orphanet:276603"} ! diazoxide-resistant focal hyperinsulinism

[Term]
id: MONDO:0017189
name: adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
def: "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" [Orphanet:276608]
subset: gard_rare {source="GARD:21056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276608"}
subset: orphanet_rare {source="Orphanet:276608"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NI-PHH" EXACT [Orphanet:276608]
xref: GARD:21056 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:276608/attributed", source="Orphanet:276608/ntbt", source="Orphanet:276608"}
xref: MEDGEN:907576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276608 {source="MONDO:equivalentTo"}
xref: SCTID:717044000 {source="MONDO:equivalentTo"}
xref: UMLS:C4274082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907576"}
is_a: MONDO:0017182 {source="Orphanet:276608"} ! familial hyperinsulinism

[Term]
id: MONDO:0017190
name: sporadic pheochromocytoma/secreting paraganglioma
def: "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating." [Orphanet:276621]
subset: gard_rare {source="GARD:7385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276621"}
subset: orphanet_rare {source="Orphanet:276621"}
subset: rare
xref: GARD:7385 {source="MONDO:GARD"}
xref: ICD10CM:C74.1 {source="Orphanet:276621", source="Orphanet:276621/ntbt"}
xref: ICD10CM:D35.0 {source="Orphanet:276621", source="Orphanet:276621/ntbt"}
xref: MEDGEN:1636854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276621 {source="MONDO:equivalentTo"}
xref: UMLS:C4707333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636854"}
is_a: MONDO:0000448 {source="https://orcid.org/0000-0002-6601-2165"} ! paraganglioma

[Term]
id: MONDO:0017191
name: sporadic pheochromocytoma
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: ICD10CM:C74.1 {source="Orphanet:276624", source="Orphanet:276624/ntbt"}
xref: ICD10CM:D35.0 {source="Orphanet:276624", source="Orphanet:276624/ntbt"}
xref: Orphanet:276624 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017190 {source="Orphanet:276624"} ! sporadic pheochromocytoma/secreting paraganglioma

[Term]
id: MONDO:0017192
name: sporadic secreting paraganglioma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:C75.5 {source="Orphanet:276627/ntbt", source="Orphanet:276627"}
xref: ICD10CM:D44.7 {source="Orphanet:276627/ntbt", source="Orphanet:276627"}
xref: Orphanet:276627 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017190 {source="Orphanet:276627"} ! sporadic pheochromocytoma/secreting paraganglioma

[Term]
id: MONDO:0017193
name: symptomatic form of Coffin-Lowry syndrome in female carriers
subset: gard_rare {source="GARD:21057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:276630"}
subset: ordo_malformation_syndrome {source="Orphanet:276630"}
subset: orphanet_rare {source="Orphanet:276630"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21057 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:276630/attributed", source="Orphanet:276630/ntbt", source="Orphanet:276630"}
xref: MEDGEN:1814465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:276630 {source="MONDO:equivalentTo"}
xref: UMLS:C5680787 {source="MEDGEN:1814465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:276630"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:276630", source="Orphanet:276630/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0017194
name: Blount disease
def: "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs." [Orphanet:2768]
subset: gard_rare {source="GARD:916", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2768"}
subset: ordo_malformation_syndrome {source="Orphanet:2768"}
subset: orphanet_rare {source="Orphanet:2768"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Blount disease" EXACT [DOID:14798]
synonym: "Blount's disease" EXACT [MONDO:0002020]
synonym: "Blount-Barber syndrome" RELATED [GARD:0000916]
synonym: "Erlacher-Blount syndrome" RELATED [GARD:0000916]
synonym: "familial infantile type osteochondrosis deformans tibiae" EXACT [DOID:14798]
synonym: "infantile tibia vara" EXACT [Orphanet:2768]
synonym: "Osteochondrosis deformans tibiae" EXACT [Orphanet:2768]
synonym: "Osteochondrosis deformans tibiae, familial infantile type" RELATED [GARD:0000916]
synonym: "tibia vara" RELATED [GARD:0000916]
synonym: "tibia vara Blount" EXACT [Orphanet:2768]
xref: DOID:14798 {source="MONDO:equivalentTo"}
xref: GARD:916 {source="MONDO:GARD"}
xref: ICD10CM:M92.5 {source="Orphanet:2768", source="Orphanet:2768/attributed", source="Orphanet:2768/ntbt"}
xref: ICD9:736.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10072255 {source="Orphanet:2768", source="Orphanet:2768/e"}
xref: MEDGEN:104499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536237 {source="MONDO:equivalentTo", source="Orphanet:2768", source="Orphanet:2768/e", source="DOID:14798"}
xref: NCIT:C118460 {source="MONDO:equivalentTo"}
xref: Orphanet:2768 {source="MONDO:equivalentTo"}
xref: SCTID:79353000 {source="MONDO:equivalentTo"}
xref: UMLS:C0175756 {source="MEDGEN:104499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="DOID:14798"} ! osteochondrodysplasia
is_a: MONDO:0019698 {source="Orphanet:2768"} ! bent bone dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/916/blount-disease" xsd:anyURI {source="GARD:0000916"}

[Term]
id: MONDO:0017195
name: Bruck syndrome
def: "Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures." [Orphanet:2771]
subset: gard_rare {source="GARD:1029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2771"}
subset: ordo_malformation_syndrome {source="Orphanet:2771"}
subset: orphanet_rare {source="Orphanet:2771"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [DOID:0060231]
synonym: "osteogenesis imperfecta-congenital joint contractures syndrome" EXACT [Orphanet:2771]
xref: DOID:0060231 {source="MONDO:equivalentTo"}
xref: GARD:1029 {source="MONDO:GARD"}
xref: ICD10CM:M21.8 {source="DOID:0060231", source="Orphanet:2771", source="Orphanet:2771/index", source="Orphanet:2771/ntbt"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063718 {source="Orphanet:2771", source="Orphanet:2771/e"}
xref: MEDGEN:609420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:259450 {source="MONDO:equivalentTo"}
xref: Orphanet:2771 {source="DOID:0060231", source="MONDO:equivalentTo"}
xref: SCTID:254113006 {source="MONDO:equivalentTo"}
xref: UMLS:C0432253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609420"}
is_a: MONDO:0002254 {source="DOID:0060231"} ! syndromic disease
is_a: MONDO:0018230 {source="Orphanet:2771"} ! skeletal dysplasia
relationship: disease_has_feature HP:0004349 {source="Orphanet:2771"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2771", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:259450"} ! inherited

[Term]
id: MONDO:0017196
name: osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
def: "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents." [Orphanet:2773]
subset: gard_rare {source="GARD:587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2773"}
subset: ordo_malformation_syndrome {source="Orphanet:2773"}
subset: orphanet_rare {source="Orphanet:2773"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Al Gazali Sabrinathan Nair syndrome" RELATED [GARD:0000587]
synonym: "Al Gazali-Nair syndrome" EXACT [GARD:0000587, Orphanet:2773]
synonym: "osteogenesis imperfecta retinopathy seizures intellectual deficit" RELATED [GARD:0000587]
xref: GARD:587 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2773", source="Orphanet:2773/attributed", source="Orphanet:2773/ntbt"}
xref: MEDGEN:928493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535617 {source="MONDO:equivalentTo"}
xref: Orphanet:2773 {source="GARD:0000587", source="MONDO:equivalentTo"}
xref: SCTID:722110003 {source="MONDO:equivalentTo"}
xref: UMLS:C4302824 {source="MEDGEN:928493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003608 {source="MESH:C535617"} ! optic atrophy
is_a: MONDO:0005283 {source="MESH:C535617"} ! retinal disorder
is_a: MONDO:0005287 {source="MESH:C535617"} ! developmental disability
is_a: MONDO:0019019 {source="MESH:C535617"} ! osteogenesis imperfecta
relationship: disease_has_feature HP:0004349 {source="Orphanet:2773"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2773", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome" xsd:anyURI {source="GARD:0000587"}

[Term]
id: MONDO:0017197
name: osteopathia striata-pigmentary dermopathy-white forelock syndrome
def: "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." [Orphanet:2779]
subset: gard_rare {source="GARD:5562", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2779"}
subset: ordo_malformation_syndrome {source="Orphanet:2779"}
subset: orphanet_rare {source="Orphanet:2779"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "osteopathia striata associated with familial dermopathy and white forelock" RELATED [GARD:0005562]
synonym: "osteopathia striata with pigmentary dermopathy including white forelock" RELATED [GARD:0005562]
synonym: "Whyte Murphy syndrome" RELATED [GARD:0005562]
synonym: "Whyte-Murphy syndrome" EXACT [Orphanet:2779]
xref: GARD:5562 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:2779", source="Orphanet:2779/attributed", source="Orphanet:2779/ntbt"}
xref: MEDGEN:419711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536054 {source="MONDO:equivalentTo"}
xref: OMIM:311280 {source="Orphanet:2779", source="MONDO:obsolete", source="Orphanet:2779/e"}
xref: Orphanet:2779 {source="MONDO:equivalentTo"}
xref: UMLS:C2931096 {source="MEDGEN:419711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:311280"} ! hereditary disease
is_a: MONDO:0019289 {source="Orphanet:2779"} ! hyperpigmentation of the skin
relationship: disease_has_feature HP:0011001 {source="Orphanet:2779"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2779", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density

[Term]
id: MONDO:0017198
name: osteopetrosis
def: "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." [Orphanet:2781]
subset: disease_grouping
subset: gard_rare {source="GARD:4155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1538"}
subset: ordo_group_of_disorders {source="Orphanet:2781"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Albers-Schoenberg disease" RELATED [GARD:0004155]
synonym: "Albers-Schonberg disease" EXACT [DOID:13533, GARD:0004155]
synonym: "marble bone" EXACT [DOID:13533]
synonym: "marble bone disease" EXACT [GARD:0004155]
synonym: "marble bones" EXACT [GARD:0004155]
synonym: "osteopetroses" RELATED [GARD:0004155]
synonym: "osteopetrosis" EXACT [MONDO:ambiguous]
synonym: "osteopetrosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "osteopetrosis and related disorders" RELATED [Orphanet:2781]
synonym: "osteosclerosis fragilis" RELATED [GARD:0004155]
xref: DOID:13533 {source="MONDO:equivalentTo"}
xref: GARD:4155 {source="MONDO:GARD"}
xref: HP:0011002 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q78.2 {source="Orphanet:2781", source="Orphanet:2781/e", source="Orphanet:2781/specific", source="DOID:13533"}
xref: icd11.foundation:1498426606 {source="Orphanet:2781", source="MONDO:equivalentTo"}
xref: ICD9:756.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13533"}
xref: MedDRA:10031280 {source="Orphanet:2781", source="Orphanet:2781/e"}
xref: MEDGEN:18223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010022 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:2781", source="MONDO:equivalentTo", source="Orphanet:2781/e", source="DOID:13533"}
xref: NANDO:1200998 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201013 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26840 {source="MONDO:equivalentTo", source="DOID:13533"}
xref: NORD:1538 {source="MONDO:NORD"}
xref: Orphanet:2781 {source="MONDO:equivalentTo"}
xref: Orphanet:667 {source="DOID:13533"}
xref: SCTID:1926006 {source="MONDO:equivalentTo", source="DOID:13533"}
xref: SCTID:205500005 {source="DOID:13533"}
xref: SCTID:205502002 {source="DOID:13533"}
xref: SCTID:360504006 {source="DOID:13533"}
xref: SCTID:367489004 {source="DOID:13533"}
xref: SCTID:63941000 {source="DOID:13533"}
xref: UMLS:C0029454 {source="MEDGEN:18223", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002933 {source="DOID:13533", source="Wikipedia:Osteopetrosis"} ! osteosclerosis
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:2781"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2781", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000589 "osteopetrosis (disease)" xsd:string

[Term]
id: MONDO:0017199
name: osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
def: "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family." [Orphanet:2787]
subset: gard_rare {source="GARD:18778", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2787"}
subset: ordo_malformation_syndrome {source="Orphanet:2787"}
subset: orphanet_rare {source="Orphanet:2787"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Heide syndrome" EXACT [Orphanet:2787]
xref: GARD:18778 {source="MONDO:GARD"}
xref: MEDGEN:899606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2787 {source="MONDO:equivalentTo"}
xref: SCTID:716189005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899606"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: disease_has_feature HP:0004349 {source="Orphanet:2787"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:2787", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density

[Term]
id: MONDO:0017200
name: polycystic ovaries-urethral sphincter dysfunction syndrome
def: "Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries." [Orphanet:2795]
subset: gard_rare {source="GARD:2365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2795"}
subset: orphanet_rare {source="Orphanet:2795"}
subset: rare
synonym: "fowler Christmas Chapple syndrome" RELATED [GARD:0002365]
synonym: "fowler's syndrome" RELATED [GARD:0002365]
synonym: "fowler-Christmas-Chapple syndrome" EXACT [Orphanet:2795]
synonym: "polycystic ovaries urethral sphincter dysfunction" RELATED [GARD:0002365]
synonym: "voiding dysfunction and polycystic ovaries" RELATED [GARD:0002365]
xref: GARD:2365 {source="MONDO:GARD"}
xref: MEDGEN:419813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537271 {source="MONDO:equivalentTo"}
xref: Orphanet:2795 {source="MONDO:equivalentTo"}
xref: UMLS:C2931462 {source="MEDGEN:419813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="MONDO:0015875-obsoleted"} ! female reproductive system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare

[Term]
id: MONDO:0017201
name: Spasmus nutans
def: "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." [Orphanet:279882]
subset: gard_rare {source="GARD:21058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:279882"}
subset: ordo_disorder {source="Orphanet:279882"}
subset: orphanet_rare {source="Orphanet:279882"}
subset: rare
synonym: "Spasmus nutans" EXACT [MONDO:ambiguous]
synonym: "Spasmus nutans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:21058 {source="MONDO:GARD"}
xref: HP:0010533 {source="MONDO:otherHierarchy"}
xref: ICD10CM:F98.4 {source="Orphanet:279882", source="Orphanet:279882/ntbt"}
xref: MedDRA:10059593 {source="Orphanet:279882", source="Orphanet:279882/e"}
xref: MEDGEN:154280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279882 {source="MONDO:equivalentTo"}
xref: SCTID:400948003 {source="MONDO:equivalentTo"}
xref: UMLS:C0546878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154280"}
is_a: MONDO:0005328 ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: IAO:0000589 "Spasmus nutans (disease)" xsd:string

[Term]
id: MONDO:0017202
name: acute endophthalmitis
def: "Acute form of endophthalmitis." [MONDO:patterns/acute]
subset: gard_rare {source="GARD:21059", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:279888"}
subset: rare
synonym: "endophthalmitis, acute" EXACT [MONDO:patterns/acute]
xref: DOID:11752 {source="MONDO:equivalentTo"}
xref: GARD:21059 {source="MONDO:GARD"}
xref: ICD10CM:H44.0 {source="Orphanet:279888", source="Orphanet:279888/ntbt"}
xref: ICD10CM:H44.1 {source="Orphanet:279888", source="Orphanet:279888/ntbt"}
xref: ICD9:360.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11752"}
xref: MedDRA:10000730 {source="Orphanet:279888", source="Orphanet:279888/e"}
xref: MEDGEN:509652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279888 {source="MONDO:equivalentTo"}
xref: SCTID:1493002 {source="MONDO:equivalentTo", source="DOID:11752"}
xref: SCTID:193268004 {source="DOID:11752"}
xref: UMLS:C0154773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509652"}
is_a: MONDO:0004863 {source="DOID:11752"} ! purulent endophthalmitis
intersection_of: MONDO:0016047 ! endophthalmitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0017203
name: chronic endophthalmitis
def: "Chronic form of endophthalmitis." [MONDO:patterns/chronic]
subset: gard_rare {source="GARD:21060", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:279891"}
subset: rare
synonym: "endophthalmitis, chronic" EXACT [MONDO:patterns/chronic]
xref: DOID:10697 {source="MONDO:equivalentTo"}
xref: GARD:21060 {source="MONDO:GARD"}
xref: ICD10CM:H44.0 {source="Orphanet:279891/ntbt", source="Orphanet:279891"}
xref: ICD10CM:H44.1 {source="Orphanet:279891/ntbt", source="Orphanet:279891"}
xref: ICD9:360.03 {source="DOID:10697", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10008864 {source="Orphanet:279891/e", source="Orphanet:279891"}
xref: MEDGEN:509653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279891 {source="MONDO:equivalentTo"}
xref: SCTID:13978000 {source="DOID:10697", source="MONDO:equivalentTo"}
xref: SCTID:193269007 {source="DOID:10697"}
xref: UMLS:C0154774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509653"}
is_a: MONDO:0004863 {source="DOID:10697"} ! purulent endophthalmitis
intersection_of: MONDO:0016047 ! endophthalmitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0017204
name: toxic maculopathy due to antimalarial drugs
def: "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." [Orphanet:279894]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279894"}
subset: orphanet_rare {source="Orphanet:279894"}
subset: rare
xref: ICD10CM:H35.3 {source="Orphanet:279894", source="MONDO:relatedTo", source="Orphanet:279894/ntbt"}
xref: ICD10CM:T37.2 {source="Orphanet:279894", source="Orphanet:279894/ntbt"}
xref: MEDGEN:1636117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279894 {source="MONDO:equivalentTo"}
xref: SCTID:763621004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636117"}
is_a: MONDO:0005328 ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0017205
name: primary oculocerebral lymphoma
def: "Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits." [Orphanet:279897]
subset: gard_rare {source="GARD:21062", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279897"}
subset: orphanet_rare {source="Orphanet:279897"}
subset: rare
synonym: "primary oculocerebral non-Hodgkin lymphoma" EXACT [Orphanet:279897]
xref: GARD:21062 {source="MONDO:GARD"}
xref: MEDGEN:1814439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279897 {source="MONDO:equivalentTo"}
xref: UMLS:C5679779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814439"}
is_a: MONDO:0017207 {source="Orphanet:279897"} ! primary organ-specific lymphoma
is_a: MONDO:0021220 {source="MONDO:Redundant", source="Orphanet:279897"} ! eye neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare

[Term]
id: MONDO:0017207
name: primary organ-specific lymphoma
subset: disease_grouping
subset: gard_rare {source="GARD:21064", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:279911"}
subset: rare
xref: GARD:21064 {source="MONDO:GARD"}
xref: MEDGEN:1826175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7185 {source="MONDO:equivalentTo"}
xref: Orphanet:279911 {source="MONDO:equivalentTo"}
xref: UMLS:C5680788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826175"}
is_a: MONDO:0005062 {source="Orphanet:279911"} ! lymphoma

[Term]
id: MONDO:0017208
name: obsolete intermediate uveitis
is_obsolete: true
replaced_by: MONDO:0006806

[Term]
id: MONDO:0017209
name: infectious posterior uveitis
subset: gard_rare {source="GARD:21066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279919"}
subset: orphanet_rare {source="Orphanet:279919"}
subset: rare
xref: GARD:21066 {source="MONDO:GARD"}
xref: ICD10CM:H20.0 {source="Orphanet:279919/ntbt", source="Orphanet:279919"}
xref: icd11.foundation:1722408748 {source="MONDO:equivalentTo", source="Orphanet:279919", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1701702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279919 {source="MONDO:equivalentTo"}
xref: UMLS:C5230265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1701702"}
is_a: MONDO:0001280 {source="MONDO:Redundant", source="Orphanet:279919"} ! choroiditis
is_a: MONDO:0005550 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0017210
name: infectious anterior uveitis
def: "An infectious disease involving a pathogenic inflammatory response in the anterior uvea." [MONDO:patterns/specific_inflammatory_disease_by_site]
subset: gard_rare {source="GARD:21067", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279922"}
subset: orphanet_rare {source="Orphanet:279922"}
subset: rare
synonym: "infectious secondary iridocyclitis" EXACT [DOID:9389]
synonym: "secondary infected iridocyclitis" EXACT [DOID:9389]
synonym: "secondary iridocyclitis, infectious" EXACT [DOID:9389, ICD9CM:364.03]
xref: DOID:9389 {source="MONDO:equivalentTo"}
xref: GARD:21067 {source="MONDO:GARD"}
xref: ICD10CM:H20.0 {source="Orphanet:279922", source="Orphanet:279922/ntbt"}
xref: ICD10CM:H20.03 {source="DOID:9389"}
xref: ICD10CM:H20.1 {source="Orphanet:279922", source="Orphanet:279922/ntbt"}
xref: ICD10CM:H20.2 {source="Orphanet:279922", source="Orphanet:279922/ntbt"}
xref: ICD10CM:H20.8 {source="Orphanet:279922", source="Orphanet:279922/ntbt"}
xref: ICD10CM:H20.9 {source="Orphanet:279922", source="Orphanet:279922/ntbt"}
xref: ICD9:364.03 {source="DOID:9389"}
xref: MEDGEN:509716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279922 {source="MONDO:equivalentTo"}
xref: SCTID:193487008 {source="MONDO:equivalentTo", source="DOID:9389"}
xref: SCTID:89114005 {source="DOID:9389"}
xref: UMLS:C0154911 {source="MEDGEN:509716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004773 {source="DOID:9389"} ! iridocyclitis
is_a: MONDO:0005550 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0011892 ! anterior uvea

[Term]
id: MONDO:0017211
name: infectious panuveitis
subset: gard_rare {source="GARD:21068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279925"}
subset: orphanet_rare {source="Orphanet:279925"}
subset: rare
xref: GARD:21068 {source="MONDO:GARD"}
xref: ICD10CM:H44.1 {source="Orphanet:279925/ntbt", source="Orphanet:279925"}
xref: icd11.foundation:1709165622 {source="MONDO:equivalentTo", source="Orphanet:279925"}
xref: MEDGEN:1684863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279925 {source="MONDO:equivalentTo"}
xref: UMLS:C5230354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684863"}
is_a: MONDO:0005550 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! infectious disease
is_a: MONDO:0017255 {source="Orphanet:279925"} ! panuveitis

[Term]
id: MONDO:0017212
name: paraneoplastic uveitis
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:21069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:279928"}
subset: orphanet_rare {source="Orphanet:279928"}
subset: rare
xref: GARD:21069 {source="MONDO:GARD"}
xref: MEDGEN:1830109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279928 {source="MONDO:equivalentTo"}
xref: UMLS:C5680786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830109"}
is_a: MONDO:0001280 {source="https://orcid.org/0000-0002-3458-4839"} ! choroiditis
is_a: MONDO:0002661 {source="https://orcid.org/0000-0002-4142-7153"} ! uveal disorder
is_a: MONDO:0020283 {source="https://orcid.org/0000-0001-5208-3432"} ! uveitis
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0017213
name: postorgasmic illness syndrome
def: "A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS." [https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome]
subset: gard_rare {source="GARD:10809", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:279947"}
subset: ordo_disorder {source="Orphanet:279947"}
subset: orphanet_rare {source="Orphanet:279947"}
subset: rare
synonym: "POIS" EXACT ABBREVIATION [Orphanet:279947]
synonym: "post orgasmic sick syndrome" RELATED [GARD:0010809]
xref: GARD:10809 {source="MONDO:GARD"}
xref: MEDGEN:1663577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:279947 {source="MONDO:equivalentTo"}
xref: UMLS:C4749582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1663577"}
is_a: MONDO:0002118 {source="GARD:0010809"} ! urinary system disorder
is_a: MONDO:0003150 {source="GARD:0010809"} ! male reproductive system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare
relationship: realized_in_response_to MF:0000061 ! orgasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3570" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome" xsd:anyURI {source="GARD:0010809"}

[Term]
id: MONDO:0017214
name: vitamin B12-responsive methylmalonic acidemia
def: "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)." [Orphanet:28]
subset: gard_rare {source="GARD:12623", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:28"}
subset: orphanet_rare {source="Orphanet:28"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosylcobalamin deficiency" EXACT [Orphanet:28]
synonym: "vitamin B12-responsive methylmalonic aciduria" EXACT [Orphanet:28]
xref: GARD:12623 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:28/inclusion", source="Orphanet:28", source="Orphanet:28/ntbt"}
xref: MEDGEN:575193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:28 {source="MONDO:equivalentTo"}
xref: SCTID:69614003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575193"}
is_a: MONDO:0002012 {source="https://orcid.org/0000-0001-5208-3432"} ! methylmalonic acidemia
is_a: MONDO:0019215 ! classic organic aciduria
is_a: MONDO:0019220 {source="Orphanet:28"} ! inborn disorder of cobalamin metabolism and transport
intersection_of: MONDO:0002012 ! methylmalonic acidemia
intersection_of: disease_responds_to CHEBI:30411 ! cobalamin
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:28", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia" xsd:anyURI {source="GARD:0012623"}

[Term]
id: MONDO:0017215
name: calciphylaxis
def: "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." [GARD:0005980]
subset: gard_rare {source="GARD:5980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280062"}
subset: orphanet_rare {source="Orphanet:280062"}
subset: rare
synonym: "idiopathic calciphylaxis" RELATED [GARD:0005980]
xref: DOID:4734 {source="MONDO:equivalentTo"}
xref: GARD:5980 {source="MONDO:GARD"}
xref: ICD10CM:E83.5 {source="Orphanet:280062/ntbt", source="Orphanet:280062"}
xref: icd11.foundation:574291789 {source="Orphanet:280062", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10051714 {source="Orphanet:280062", source="Orphanet:280062/e"}
xref: MEDGEN:2404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002115 {source="DOID:4734", source="MONDO:equivalentTo"}
xref: NCIT:C84607 {source="DOID:4734", source="MONDO:equivalentTo"}
xref: Orphanet:280062 {source="MONDO:equivalentTo"}
xref: SCTID:237900002 {source="DOID:4734", source="MONDO:equivalentTo"}
xref: UMLS:C0006666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2404"}
is_a: MONDO:0002123 {source="DOID:4734", source="MESH:D002115"} ! calcinosis
is_a: MONDO:0002254 {source="NCIT:C84607"} ! syndromic disease
is_a: MONDO:0005385 {source="Orphanet:280062", source="Orphanet:280062/inferred"} ! vascular disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019048"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis" xsd:anyURI {source="GARD:0005980"}

[Term]
id: MONDO:0017216
name: calciphylaxis cutis
def: "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation." [Orphanet:280065]
subset: gard_rare {source="GARD:21070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280065"}
subset: rare
xref: GARD:21070 {source="MONDO:GARD"}
xref: ICD10CM:E83.5 {source="Orphanet:280065", source="Orphanet:280065/ntbt"}
xref: MEDGEN:900547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280065 {source="MONDO:equivalentTo"}
xref: SCTID:717043006 {source="MONDO:equivalentTo"}
xref: UMLS:C4274083 {source="MEDGEN:900547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017215 {source="Orphanet:280065"} ! calciphylaxis
is_a: MONDO:0019293 {source="Orphanet:280065"} ! skin vascular disease

[Term]
id: MONDO:0017217
name: visceral calciphylaxis
def: "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation." [Orphanet:280068]
subset: gard_rare {source="GARD:21071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280068"}
subset: rare
xref: GARD:21071 {source="MONDO:GARD"}
xref: ICD10CM:E83.5 {source="Orphanet:280068/ntbt", source="Orphanet:280068"}
xref: MEDGEN:1664968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280068 {source="MONDO:equivalentTo"}
xref: UMLS:C4749793 {source="MEDGEN:1664968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017215 {source="Orphanet:280068"} ! calciphylaxis

[Term]
id: MONDO:0017218
name: obsolete septopreoptic holoprosencephaly
def: "OBSOLETE. Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." [Orphanet:280195]
subset: ordo_subtype_of_a_disorder {source="Orphanet:280195"}
subset: otar {source="MONDO:OTAR"}
synonym: "Septopreoptic HPE" EXACT [Orphanet:280195]
xref: GARD:17289 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.2 {source="Orphanet:280195/attributed", source="Orphanet:280195/ntbt", source="Orphanet:280195"}
xref: Orphanet:280195 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017219
name: microform holoprosencephaly
def: "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage." [Orphanet:280200]
subset: gard_rare {source="GARD:17290", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280200"}
subset: ordo_malformation_syndrome {source="Orphanet:280200"}
subset: orphanet_rare {source="Orphanet:280200"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HoloprosencC)phalie, minor form" EXACT [Orphanet:280200]
synonym: "holoprosencephaly-like" EXACT [Orphanet:280200]
synonym: "Holoprosencéphalie, minor form" EXACT [Orphanet:280200]
synonym: "HPE, minor form" EXACT [Orphanet:280200]
synonym: "HPE-L" EXACT [Orphanet:280200]
synonym: "Microform HPE" EXACT [Orphanet:280200]
xref: DOID:0111380 {source="MONDO:equivalentTo"}
xref: GARD:17290 {source="MONDO:GARD"}
xref: ICD10CM:Q04.2 {source="Orphanet:280200/attributed", source="Orphanet:280200/ntbt", source="Orphanet:280200", source="MONDO:directSiblingOf"}
xref: MEDGEN:1711978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280200 {source="MONDO:equivalentTo"}
xref: UMLS:C5393309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711978"}
is_a: MONDO:0016296 {source="https://orcid.org/0000-0002-4142-7153"} ! holoprosencephaly
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017220
name: laryngotracheoesophageal cleft type 0
def: "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course." [Orphanet:280205]
subset: gard_rare {source="GARD:21072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280205"}
subset: rare
synonym: "laryngo-tracheo-esophageal cleft type 0" EXACT [Orphanet:280205]
synonym: "LTEC0" EXACT ABBREVIATION [Orphanet:280205]
xref: GARD:21072 {source="MONDO:GARD"}
xref: ICD10CM:Q32.1 {source="Orphanet:280205/ntbt", source="Orphanet:280205"}
xref: MEDGEN:1760178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280205 {source="MONDO:equivalentTo"}
xref: UMLS:C5438977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1760178"}
is_a: MONDO:0016060 {source="Orphanet:280205"} ! laryngotracheoesophageal cleft

[Term]
id: MONDO:0017221
name: Pelizaeus-Merzbacher disease, connatal form
def: "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD." [Orphanet:280210]
subset: gard_rare {source="GARD:17291", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280210"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "connatal PMD" EXACT [Orphanet:280210]
synonym: "Pelizaeus-Merzbacher disease type II" EXACT [Orphanet:280210]
synonym: "severe PMD" EXACT [Orphanet:280210]
xref: GARD:17291 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:280210", source="Orphanet:280210/attributed", source="Orphanet:280210/ntbt"}
xref: MEDGEN:1842817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280210 {source="MONDO:equivalentTo"}
xref: UMLS:C5679776 {source="MEDGEN:1842817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010714 {source="Orphanet:280210"} ! Pelizeaus-Merzbacher spectrum disorder

[Term]
id: MONDO:0017222
name: Pelizaeus-Merzbacher disease, classic form
def: "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." [Orphanet:280219]
subset: gard_rare {source="GARD:21073", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280219"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic PMD" EXACT [Orphanet:280219]
xref: GARD:21073 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:280219/attributed", source="Orphanet:280219/ntbt", source="Orphanet:280219"}
xref: MEDGEN:155959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280219 {source="MONDO:equivalentTo"}
xref: SCTID:87607002 {source="MONDO:equivalentTo"}
xref: UMLS:C0751916 {source="MEDGEN:155959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010714 {source="Orphanet:280219"} ! Pelizeaus-Merzbacher spectrum disorder

[Term]
id: MONDO:0017223
name: Pelizaeus-Merzbacher disease, transitional form
def: "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD." [Orphanet:280224]
subset: gard_rare {source="GARD:21074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280224"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "transitional PMD" EXACT [Orphanet:280224]
xref: GARD:21074 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:280224/attributed", source="Orphanet:280224/ntbt", source="Orphanet:280224"}
xref: MEDGEN:199764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280224 {source="MONDO:equivalentTo"}
xref: UMLS:C0751917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199764"}
is_a: MONDO:0010714 {source="Orphanet:280224"} ! Pelizeaus-Merzbacher spectrum disorder

[Term]
id: MONDO:0017224
name: Pelizaeus-Merzbacher disease in female carriers
def: "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22)." [Orphanet:280229]
subset: gard_rare {source="GARD:21075", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280229"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21075 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:280229", source="Orphanet:280229/attributed", source="Orphanet:280229/ntbt"}
xref: MEDGEN:1753109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280229 {source="MONDO:equivalentTo"}
xref: UMLS:C5438815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1753109"}
is_a: MONDO:0010714 {source="Orphanet:280229"} ! Pelizeaus-Merzbacher spectrum disorder

[Term]
id: MONDO:0017225
name: null syndrome
def: "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." [Orphanet:280234]
subset: gard_rare {source="GARD:17292", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280234"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pelizaeus-Merzbacher disease, null syndrome" EXACT [Orphanet:280234]
synonym: "PLP1 null syndrome" EXACT [Orphanet:280234]
xref: GARD:17292 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:280234", source="Orphanet:280234/attributed", source="Orphanet:280234/ntbt"}
xref: MEDGEN:1740046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280234 {source="MONDO:equivalentTo"}
xref: UMLS:C5439441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1740046"}
is_a: MONDO:0010714 {source="Orphanet:280234"} ! Pelizeaus-Merzbacher spectrum disorder

[Term]
id: MONDO:0017226
name: Pelizaeus-Merzbacher-like disease
def: "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)." [Orphanet:280270]
subset: gard_rare {source="GARD:12300", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280270"}
subset: orphanet_rare {source="Orphanet:280270"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PMLD" EXACT ABBREVIATION [Orphanet:280270]
xref: GARD:12300 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:280270", source="Orphanet:280270/attributed", source="Orphanet:280270/ntbt"}
xref: icd11.foundation:1101042369 {source="Orphanet:280270", source="MONDO:equivalentTo"}
xref: MEDGEN:894734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200577 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201289 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:280270 {source="MONDO:equivalentTo"}
xref: SCTID:717042001 {source="MONDO:equivalentTo"}
xref: UMLS:C4274084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894734"}
is_a: MONDO:0019046 {source="Orphanet:280270"} ! leukodystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease" xsd:anyURI {source="GARD:0012300"}

[Term]
id: MONDO:0017227
name: autoimmune pancreatitis type 1
def: "Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." [Orphanet:280302]
subset: gard_rare {source="GARD:21076", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280302"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIP type 1" EXACT [Orphanet:280302]
synonym: "autoimmune pancreatitis type 1" EXACT [MONDO:0006623]
synonym: "IgG4-related pancreatitis" EXACT [Orphanet:280302]
synonym: "lymphoplasmacytic sclerosing pancreatitis" EXACT [Orphanet:280302]
xref: EFO:1000780 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21076 {source="MONDO:GARD"}
xref: ICD10CM:K86.1 {source="Orphanet:280302/ntbt", source="Orphanet:280302"}
xref: MEDGEN:927912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280302 {source="MONDO:equivalentTo"}
xref: PMID:25985088 {source="EFO:1000780"}
xref: SCTID:722872000 {source="MONDO:equivalentTo"}
xref: UMLS:C4302243 {source="MEDGEN:927912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005003 {source="EFO:1000780"} ! chronic pancreatitis
is_a: MONDO:0015175 {source="Orphanet:280302"} ! autoimmune pancreatitis
relationship: disease_has_location UBERON:0001264 {source="EFO:0000784"} ! pancreas
relationship: disease_has_location UBERON:0002405 {source="EFO:0000784"} ! immune system

[Term]
id: MONDO:0017228
name: autoimmune pancreatitis type 2
def: "Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice." [Orphanet:280315]
subset: gard_rare {source="GARD:21077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280315"}
subset: orphanet_rare {source="Orphanet:280315"}
subset: rare
synonym: "AIP type 2" EXACT [Orphanet:280315]
synonym: "duct-centric pancreatitis" EXACT [Orphanet:280315]
xref: GARD:21077 {source="MONDO:GARD"}
xref: ICD10CM:K86.1 {source="Orphanet:280315/ntbt", source="Orphanet:280315"}
xref: MEDGEN:1679984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280315 {source="MONDO:equivalentTo"}
xref: UMLS:C5197785 {source="MEDGEN:1679984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015175 {source="Orphanet:280315"} ! autoimmune pancreatitis

[Term]
id: MONDO:0017229
name: distal monosomy 12p
def: "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly." [Orphanet:280325]
subset: gard_rare {source="GARD:21078", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280325"}
subset: ordo_malformation_syndrome {source="Orphanet:280325"}
subset: orphanet_rare {source="Orphanet:280325"}
subset: rare
synonym: "12p13.33 microdeletion syndrome" EXACT [Orphanet:280325]
synonym: "Del(12)(p13.33)" EXACT [Orphanet:280325]
synonym: "distal deletion 12p" EXACT [Orphanet:280325]
synonym: "distal monosomy type 12p" EXACT [MONDORULE:4, Orphanet:280325]
xref: GARD:21078 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:280325/attributed", source="Orphanet:280325/ntbt", source="Orphanet:280325"}
xref: MEDGEN:1648932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280325 {source="MONDO:equivalentTo"}
xref: UMLS:C4749581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648932"}
is_a: MONDO:0022174 {source="Orphanet:280325"} ! chromosome 12p deletion
relationship: disease_arises_from_structure CHR:9606-chr12p {source="https://orcid.org/0000-0002-4142-7153"} ! 12p (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017230
name: autosomal semi-dominant severe lipodystrophic laminopathy
subset: gard_rare {source="GARD:21080", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280365"}
subset: orphanet_rare {source="Orphanet:280365"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21080 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:280365/attributed", source="Orphanet:280365/ntbt", source="Orphanet:280365"}
xref: MEDGEN:1808090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280365 {source="MONDO:equivalentTo"}
xref: UMLS:C5680783 {source="MEDGEN:1808090", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020088 {source="Orphanet:280365"} ! familial partial lipodystrophy
is_a: MONDO:0021106 {source="MONDO:Redundant", source="MONDO:indirect"} ! laminopathy
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0017231
name: erythropoietic uroporphyria associated with myeloid malignancy
subset: gard_rare {source="GARD:10948", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280379"}
subset: orphanet_rare {source="Orphanet:280379"}
subset: rare
xref: GARD:10948 {source="MONDO:GARD"}
xref: ICD10CM:E80.2 {source="Orphanet:280379/attributed", source="Orphanet:280379/ntbt", source="Orphanet:280379"}
xref: MEDGEN:1679887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280379 {source="MONDO:equivalentTo"}
xref: UMLS:C5191004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679887"}
is_a: MONDO:0019142 {source="Orphanet:280379"} ! inherited porphyria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy" xsd:anyURI {source="GARD:0010948"}

[Term]
id: MONDO:0017232
name: recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
def: "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position." [Orphanet:280384]
subset: gard_rare {source="GARD:21083", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280384"}
subset: orphanet_rare {source="Orphanet:280384"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDMDC" EXACT ABBREVIATION [Orphanet:280384]
xref: GARD:21083 {source="MONDO:GARD"}
xref: MEDGEN:1659846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280384 {source="MONDO:equivalentTo"}
xref: UMLS:C4749580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1659846"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:280384", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017233
name: familial Alzheimer-like prion disease
subset: gard_rare {source="GARD:21084", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280397"}
subset: orphanet_rare {source="Orphanet:280397"}
subset: rare
xref: GARD:21084 {source="MONDO:GARD"}
xref: ICD10CM:A81.8 {source="Orphanet:280397", source="Orphanet:280397/ntbt"}
xref: MEDGEN:929151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280397 {source="MONDO:equivalentTo"}
xref: SCTID:721219005 {source="MONDO:equivalentTo"}
xref: UMLS:C4303482 {source="MEDGEN:929151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005429 {source="https://orcid.org/0000-0002-4142-7153"} ! prion disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017234
name: obsolete inherited prion disease
def: "OBSOLETE. An instance of prion disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:280400"}
subset: otar {source="MONDO:OTAR"}
synonym: "familial prion disease" EXACT [Orphanet:280400]
synonym: "hereditary prion disease" EXACT [MONDO:patterns/hereditary]
xref: GARD:21085 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:A81.8 {source="Orphanet:280400/attributed", source="Orphanet:280400/ntbt", source="Orphanet:280400"}
xref: NANDO:1200188 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:280400 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:280400", source="Orphanet:280400/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary dementia
relationship: excluded_subClassOf MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:280400", source="Orphanet:280400/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017235
name: familial omphalocele syndrome with facial dysmorphism
def: "Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands." [Orphanet:280403]
subset: gard_rare {source="GARD:21086", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280403"}
subset: ordo_malformation_syndrome {source="Orphanet:280403"}
subset: orphanet_rare {source="Orphanet:280403"}
subset: rare
xref: GARD:21086 {source="MONDO:GARD"}
xref: MEDGEN:1655514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280403 {source="MONDO:equivalentTo"}
xref: UMLS:C4749579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1655514"}
is_a: MONDO:0021147 {source="Orphanet:280403"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0017236
name: rapidly progressive glomerulonephritis
def: "Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "crescentic glomerulonephritis" RELATED [Orphanet:280569]
synonym: "RPGN" EXACT ABBREVIATION [Orphanet:280569]
xref: DOID:4776 {source="MONDO:equivalentTo"}
xref: ICD10CM:N01 {source="Orphanet:280569", source="DOID:4776", source="Orphanet:280569/ntbt", source="Orphanet:280569/inclusion"}
xref: ICD9:580.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:582.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:583.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10018378 {source="Orphanet:280569", source="Orphanet:280569/e"}
xref: MEDGEN:113155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200714 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200723 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35264 {source="DOID:4776", source="MONDO:equivalentTo"}
xref: Orphanet:280569 {source="MONDO:equivalentObsolete"}
xref: SCTID:236392004 {source="DOID:4776", source="MONDO:equivalentTo"}
xref: SCTID:45406000 {source="DOID:4776"}
xref: UMLS:C0221239 {source="MEDGEN:113155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="DOID:4776", source="NCIT:C35264"} ! glomerulonephritis

[Term]
id: MONDO:0017237
name: hereditary sensorimotor neuropathy with hyperelastic skin
subset: gard_rare {source="GARD:11010", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280598"}
subset: orphanet_rare {source="Orphanet:280598"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:11010 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:280598/attributed", source="Orphanet:280598/ntbt", source="Orphanet:280598"}
xref: MEDGEN:1678654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280598 {source="MONDO:equivalentTo"}
xref: UMLS:C5190690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678654"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary motor and sensory neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin" xsd:anyURI {source="GARD:0011010"}

[Term]
id: MONDO:0017238
name: hemoglobinopathy Toms River
subset: gard_rare {source="GARD:17297", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280615"}
subset: orphanet_rare {source="Orphanet:280615"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "transient neonatal cyanosis and anaemia due to Toms River Haemoglobin" EXACT OMO:0003005 []
synonym: "transient neonatal cyanosis and anemia due to Toms River Hemoglobin" EXACT [Orphanet:280615]
xref: GARD:17297 {source="MONDO:GARD"}
xref: ICD10CM:D58.2 {source="Orphanet:280615/attributed", source="Orphanet:280615/ntbt", source="Orphanet:280615"}
xref: MEDGEN:1683555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280615 {source="MONDO:equivalentTo"}
xref: UMLS:C5190689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683555"}
is_a: MONDO:0002280 {source="MONDO:Redundant", source="Orphanet:280615", source="Orphanet:280615/inferred"} ! anemia
is_a: MONDO:0013511 {source="https://orcid.org/0000-0002-6601-2165"} ! cyanosis, transient neonatal
is_a: MONDO:0019050 {source="Orphanet:280615"} ! inherited hemoglobinopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare

[Term]
id: MONDO:0017239
name: familial progressive hyper- and hypopigmentation
def: "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance." [Orphanet:280628]
subset: gard_rare {source="GARD:17298", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280628"}
subset: orphanet_rare {source="Orphanet:280628"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FPHH" EXACT ABBREVIATION [Orphanet:280628]
xref: GARD:17298 {source="MONDO:GARD"}
xref: ICD10CM:L81.8 {source="Orphanet:280628/attributed", source="Orphanet:280628/ntbt", source="Orphanet:280628"}
xref: MEDGEN:1643385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280628 {source="MONDO:equivalentTo"}
xref: UMLS:C4706423 {source="MEDGEN:1643385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007771 ! hyperpigmentation with or without hypopigmentation, familial progressive

[Term]
id: MONDO:0017240
name: obsolete acrodysostosis with multiple hormone resistance
subset: otar {source="MONDO:OTAR"}
xref: GARD:17300 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q75.4 {source="Orphanet:280651/attributed", source="Orphanet:280651/ntbt", source="Orphanet:280651"}
xref: Orphanet:280651 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017241
name: obsolete AP4-related intellectual disability and spastic paraplegia
def: "OBSOLETE. A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene." [https://www.clinicalgenome.org/affiliation/40006/, PMID:29193663, PMID:29430868, PMID:30543385, PMID:321171285]
subset: ordo_disorder {source="Orphanet:280763"}
subset: otar {source="MONDO:OTAR"}
synonym: "AP4 deficiency syndrome" EXACT [Orphanet:280763]
synonym: "AP4 related intellectual disability and spastic paraplegia" EXACT [https://github.com/monarch-initiative/mondo/issues/1728]
synonym: "severe intellectual disability and progressive spastic paraplegia" NARROW [Orphanet:280763]
xref: GARD:10999 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:280763 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6695" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017242
name: cutaneous collagenous vasculopathy
def: "Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias." [Orphanet:280779]
subset: gard_rare {source="GARD:12428", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:280779"}
subset: orphanet_rare {source="Orphanet:280779"}
subset: rare
synonym: "CCV" EXACT ABBREVIATION [Orphanet:280779]
synonym: "cutaneus colagenous vasculopathy" RELATED [GARD:0012428]
xref: GARD:12428 {source="MONDO:GARD"}
xref: MEDGEN:930992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280779 {source="MONDO:equivalentTo"}
xref: SCTID:718634003 {source="MONDO:equivalentTo"}
xref: UMLS:C4305323 {source="MEDGEN:930992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019293 {source="Orphanet:280779"} ! skin vascular disease

[Term]
id: MONDO:0017243
name: bullous diffuse cutaneous mastocytosis
def: "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." [Orphanet:280785]
subset: gard_rare {source="GARD:21088", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280785"}
subset: rare
synonym: "bullous DCM" EXACT [Orphanet:280785]
xref: GARD:21088 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:280785/ntbt", source="Orphanet:280785"}
xref: MEDGEN:1781582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280785 {source="MONDO:equivalentTo"}
xref: UMLS:C5546764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781582"}
is_a: MONDO:0019315 {source="Orphanet:280785"} ! diffuse cutaneous mastocytosis

[Term]
id: MONDO:0017244
name: pseudoxanthomatous diffuse cutaneous mastocytosis
def: "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering." [Orphanet:280794]
subset: gard_rare {source="GARD:21089", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280794"}
subset: rare
synonym: "infiltrative small vesicular DCM" EXACT [Orphanet:280794]
synonym: "infiltrative small vesicular diffuse cutaneous mastocytosis" EXACT [Orphanet:280794]
synonym: "Pseudoxanthomatous DCM" EXACT [Orphanet:280794]
xref: GARD:21089 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:280794/ntbt", source="Orphanet:280794"}
xref: MEDGEN:1842453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280794 {source="MONDO:equivalentTo"}
xref: UMLS:C5679949 {source="MONDO:equivalentTo", source="MEDGEN:1842453", source="MONDO:MEDGEN"}
is_a: MONDO:0019315 {source="Orphanet:280794"} ! diffuse cutaneous mastocytosis

[Term]
id: MONDO:0017245
name: intralobar congenital pulmonary sequestration
subset: gard_rare {source="GARD:21090", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280802"}
subset: rare
synonym: "congenital intrapulmonary sequestration" EXACT [Orphanet:280802]
synonym: "intralobar congenital bronchopulmonary sequestration" EXACT [Orphanet:280802]
xref: GARD:21090 {source="MONDO:GARD"}
xref: ICD10CM:Q33.2 {source="Orphanet:280802/ntbt", source="Orphanet:280802"}
xref: MEDGEN:1842539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280802 {source="MONDO:equivalentTo"}
xref: UMLS:C5679950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842539"}
is_a: MONDO:0017843 {source="Orphanet:280802"} ! congenital pulmonary sequestration

[Term]
id: MONDO:0017246
name: extralobar congenital pulmonary sequestration
subset: gard_rare {source="GARD:21091", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280811"}
subset: rare
synonym: "congenital extrapulmonary sequestration" EXACT [Orphanet:280811]
synonym: "extralobar congenital bronchopulmonary sequestration" EXACT [Orphanet:280811]
xref: GARD:21091 {source="MONDO:GARD"}
xref: ICD10CM:Q33.2 {source="Orphanet:280811", source="Orphanet:280811/ntbt"}
xref: MEDGEN:1843113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280811 {source="MONDO:equivalentTo"}
xref: UMLS:C5679951 {source="MONDO:equivalentTo", source="MEDGEN:1843113", source="MONDO:MEDGEN"}
is_a: MONDO:0017843 {source="Orphanet:280811"} ! congenital pulmonary sequestration

[Term]
id: MONDO:0017247
name: communicating congenital bronchopulmonary-foregut malformation
subset: gard_rare {source="GARD:21092", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280821"}
subset: rare
xref: GARD:21092 {source="MONDO:GARD"}
xref: ICD10CM:Q33.2 {source="Orphanet:280821/ntbt", source="Orphanet:280821"}
xref: MEDGEN:539496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280821 {source="MONDO:equivalentTo"}
xref: UMLS:C0265790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539496"}
is_a: MONDO:0017843 {source="Orphanet:280821"} ! congenital pulmonary sequestration

[Term]
id: MONDO:0017248
name: congenital pulmonary airway malformation type 0
subset: gard_rare {source="GARD:21093", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280827"}
subset: rare
synonym: "congenital cystic adenomatoid malformation of the lung type 0" EXACT [Orphanet:280827]
synonym: "congenital cystic adenomatous malformation of the lung type 0" EXACT [Orphanet:280827]
synonym: "CPAM type 0" EXACT [Orphanet:280827]
xref: GARD:21093 {source="MONDO:GARD"}
xref: ICD10CM:Q33.0 {source="Orphanet:280827/ntbt", source="Orphanet:280827"}
xref: MEDGEN:1776488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280827 {source="MONDO:equivalentTo"}
xref: UMLS:C5437764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1776488"}
is_a: MONDO:0016580 {source="Orphanet:280827"} ! congenital pulmonary airway malformation

[Term]
id: MONDO:0017249
name: congenital pulmonary airway malformation type 1
subset: gard_rare {source="GARD:21094", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280832"}
subset: rare
synonym: "CCAM type 1" EXACT [Orphanet:280832]
synonym: "congenital cystic adenomatoid malformation of the lung type 1" EXACT [Orphanet:280832]
synonym: "congenital cystic adenomatous malformation of the lung type 1" EXACT [Orphanet:280832]
synonym: "congenital cystic disease of the lung type 1" EXACT [Orphanet:280832]
synonym: "CPAM type 1" EXACT [Orphanet:280832]
xref: GARD:21094 {source="MONDO:GARD"}
xref: ICD10CM:Q33.0 {source="Orphanet:280832/ntbt", source="Orphanet:280832"}
xref: MEDGEN:1760964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280832 {source="MONDO:equivalentTo"}
xref: UMLS:C5437763 {source="MEDGEN:1760964", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016580 {source="Orphanet:280832"} ! congenital pulmonary airway malformation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017250
name: congenital pulmonary airway malformation type 2
subset: gard_rare {source="GARD:21095", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280840"}
subset: rare
synonym: "CCAM type 2" EXACT [Orphanet:280840]
synonym: "congenital cystic adenomatoid malformation of the lung type 2" EXACT [Orphanet:280840]
synonym: "congenital cystic adenomatous malformation of the lung type 2" EXACT [Orphanet:280840]
synonym: "congenital cystic disease of the lung type 2" EXACT [Orphanet:280840]
synonym: "CPAM type 2" EXACT [Orphanet:280840]
xref: GARD:21095 {source="MONDO:GARD"}
xref: ICD10CM:Q33.0 {source="Orphanet:280840/ntbt", source="Orphanet:280840"}
xref: MEDGEN:1738105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280840 {source="MONDO:equivalentTo"}
xref: UMLS:C5437761 {source="MEDGEN:1738105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016580 {source="Orphanet:280840"} ! congenital pulmonary airway malformation

[Term]
id: MONDO:0017251
name: congenital pulmonary airway malformation type 3
subset: gard_rare {source="GARD:21096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280847"}
subset: rare
synonym: "CCAM type 3" EXACT [Orphanet:280847]
synonym: "congenital cystic adenomatoid malformation of the lung type 3" EXACT [Orphanet:280847]
synonym: "congenital cystic adenomatous malformation of the lung type 3" EXACT [Orphanet:280847]
synonym: "congenital cystic disease of the lung type 3" EXACT [Orphanet:280847]
synonym: "CPAM type 3" EXACT [Orphanet:280847]
xref: GARD:21096 {source="MONDO:GARD"}
xref: ICD10CM:Q33.0 {source="Orphanet:280847", source="Orphanet:280847/ntbt"}
xref: MEDGEN:1741544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280847 {source="MONDO:equivalentTo"}
xref: UMLS:C5437762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1741544"}
is_a: MONDO:0016580 {source="Orphanet:280847"} ! congenital pulmonary airway malformation

[Term]
id: MONDO:0017252
name: congenital pulmonary airway malformation type 4
subset: gard_rare {source="GARD:21097", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:280854"}
subset: rare
synonym: "congenital cystic adenomatoid malformation of the lung type 4" EXACT [Orphanet:280854]
synonym: "congenital cystic adenomatous malformation of the lung type 4" EXACT [Orphanet:280854]
synonym: "CPAM type 4" EXACT [Orphanet:280854]
xref: GARD:21097 {source="MONDO:GARD"}
xref: ICD10CM:Q33.0 {source="Orphanet:280854/ntbt", source="Orphanet:280854"}
xref: MEDGEN:1777484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280854 {source="MONDO:equivalentTo"}
xref: UMLS:C5437760 {source="MEDGEN:1777484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016580 {source="Orphanet:280854"} ! congenital pulmonary airway malformation

[Term]
id: MONDO:0017253
name: obsolete anterior uveitis
is_obsolete: true
replaced_by: MONDO:0006651

[Term]
id: MONDO:0017254
name: obsolete posterior uveitis
synonym: "obsolete posterior uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete posterior uveitis (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0001280

[Term]
id: MONDO:0017255
name: panuveitis
def: "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." [NCIT:C84989]
subset: disease_grouping
subset: gard_rare {source="GARD:8577", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:280898"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse uveitis" EXACT [DOID:12030]
synonym: "panuveitis" EXACT [MONDO:ambiguous]
synonym: "panuveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "total uveitis" EXACT [Orphanet:280898]
xref: DOID:12030 {source="MONDO:equivalentTo", source="EFO:1001082"}
xref: EFO:1001082 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8577 {source="MONDO:GARD"}
xref: HP:0012121 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H44.1 {source="Orphanet:280898/ntbt", source="Orphanet:280898"}
xref: ICD10CM:H44.11 {source="DOID:12030"}
xref: icd11.foundation:1125547814 {source="MONDO:equivalentTo", source="Orphanet:280898"}
xref: ICD9:360.12 {source="DOID:12030", source="MONDO:equivalentTo", source="MONDO:i2s", source="MONDO:directSiblingOf"}
xref: MedDRA:10033687 {source="Orphanet:280898/e", source="EFO:1001082", source="Orphanet:280898"}
xref: MEDGEN:45303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015864 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082"}
xref: NCIT:C84989 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082"}
xref: Orphanet:280898 {source="MONDO:equivalentTo"}
xref: SCTID:75614007 {source="DOID:12030", source="MONDO:equivalentTo", source="EFO:1001082", source="MONDO:directSiblingOf"}
xref: UMLS:C0030343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45303"}
is_a: MONDO:0020283 {source="DOID:12030", source="EFO:1001082", source="MESH:D015864", source="NCIT:C84989", source="Orphanet:280898"} ! uveitis
property_value: IAO:0000589 "panuveitis (disease)" xsd:string

[Term]
id: MONDO:0017256
name: idiopathic anterior uveitis
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: ICD10CM:H20.0 {source="Orphanet:280914/ntbt", source="Orphanet:280914"}
xref: ICD10CM:H20.1 {source="Orphanet:280914/ntbt", source="Orphanet:280914"}
xref: ICD10CM:H20.2 {source="Orphanet:280914/ntbt", source="Orphanet:280914"}
xref: ICD10CM:H20.8 {source="Orphanet:280914/ntbt", source="Orphanet:280914"}
xref: ICD10CM:H20.9 {source="Orphanet:280914/ntbt", source="Orphanet:280914"}
xref: MEDGEN:573079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280914 {source="MONDO:equivalentTo"}
xref: SCTID:231947004 {source="MONDO:equivalentTo"}
xref: UMLS:C0339315 {source="MONDO:equivalentTo", source="MEDGEN:573079", source="MONDO:MEDGEN"}
is_a: MONDO:0006651 {source="Orphanet:280914"} ! anterior uveitis
intersection_of: MONDO:0006651 ! anterior uveitis
intersection_of: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0017257
name: idiopathic posterior uveitis
def: "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported." [Orphanet:280917]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559)
subset: gard_rare {source="GARD:21099", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280917"}
subset: orphanet_rare {source="Orphanet:280917"}
subset: rare
xref: GARD:21099 {source="MONDO:GARD"}
xref: ICD10CM:H20.0 {source="Orphanet:280917", source="Orphanet:280917/ntbt"}
xref: MEDGEN:1657160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280917 {source="MONDO:equivalentTo"}
xref: UMLS:C4751435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657160"}
is_a: MONDO:0002661 {source="https://orcid.org/0000-0002-4142-7153"} ! uveal disorder
is_a: MONDO:0020283 {source="https://orcid.org/0000-0001-5208-3432"} ! uveitis
relationship: excluded_subClassOf MONDO:0001280 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! choroiditis
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0017258
name: idiopathic panuveitis
def: "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss." [Orphanet:280921]
subset: gard_rare {source="GARD:21100", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:280921"}
subset: orphanet_rare {source="Orphanet:280921"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21100 {source="MONDO:GARD"}
xref: ICD10CM:H44.1 {source="Orphanet:280921", source="Orphanet:280921/ntbt"}
xref: MEDGEN:1633708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:280921 {source="MONDO:equivalentTo"}
xref: SCTID:766933000 {source="MONDO:equivalentTo"}
xref: UMLS:C4707884 {source="MEDGEN:1633708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017255 {source="Orphanet:280921"} ! panuveitis
intersection_of: MONDO:0017255 ! panuveitis
intersection_of: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0017259
name: obsolete systemic diseases with anterior uveitis
comment: This is a grouping class that is considered out of scope.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:280926"}
xref: GARD:21101 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:280926 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI
is_obsolete: true
consider: MONDO:0006651

[Term]
id: MONDO:0017260
name: obsolete systemic diseases with posterior uveitis
comment: This is a grouping class that is considered out of scope.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:280930"}
xref: GARD:21102 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:280930 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI
is_obsolete: true
consider: MONDO:0006918

[Term]
id: MONDO:0017261
name: obsolete systemic diseases with panuveitis
comment: This is a grouping class that is considered out of scope.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:280933"}
xref: GARD:21103 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:280933 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI
is_obsolete: true
consider: MONDO:0017255

[Term]
id: MONDO:0017262
name: obsolete inherited non-syndromic ichthyosis
def: "OBSOLETE. A inherited ichthyosis that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:281082"}
synonym: "isolated inherited ichthyosis" EXACT []
synonym: "nonsyndromic inherited ichthyosis" EXACT [MONDO:patterns/isolated]
xref: GARD:21104 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:213831678 {source="Orphanet:281082", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:281082 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017263
name: obsolete inherited ichthyosis syndromic form
def: "OBSOLETE. A inherited ichthyosis that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:281085"}
synonym: "syndrome associated with inherited ichthyosis" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic inherited ichthyosis" EXACT [MONDO:patterns/syndromic]
xref: GARD:21105 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:488102959 {source="MONDO:obsoleteEquivalent", source="Orphanet:281085", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:281085 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017264
name: syndromic recessive X-linked ichthyosis
def: "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome." [Orphanet:281090]
subset: gard_rare {source="GARD:17302", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:281090"}
subset: orphanet_rare {source="Orphanet:281090"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "recessive X-linked ichthyosis with extracutaneous manifestations" EXACT [Orphanet:281090]
synonym: "syndrome associated with recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic RXLI" EXACT [Orphanet:281090]
synonym: "syndromic X-linked ichthyosis" EXACT [Orphanet:281090]
xref: GARD:17302 {source="MONDO:GARD"}
xref: ICD10CM:Q80.1 {source="Orphanet:281090/attributed", source="Orphanet:281090/ntbt", source="Orphanet:281090"}
xref: MEDGEN:904038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:281090 {source="MONDO:equivalentTo"}
xref: SCTID:717041008 {source="MONDO:equivalentTo"}
xref: UMLS:C4274085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904038"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0017269 {source="MONDO:Redundant", source="Orphanet:281090"} ! X-linked ichthyosis syndrome
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0017265
name: autosomal recessive congenital ichthyosis
def: "Autosomal recessive form of inherited ichthyosis." [MONDO:patterns/autosomal_recessive]
comment: Editor note: ORDO, PMID:20643494, PMID:23562412 classifies as non-syndromic. A previous comment said syndromic forms exist but I couldn't find evidence of that in the literature (NV).
subset: disease_grouping
subset: gard_rare {source="GARD:21106", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:281097"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCI" EXACT ABBREVIATION [DOID:0060655, Orphanet:281097, PMID:20643494]
synonym: "autosomal recessive inherited ichthyosis" EXACT []
synonym: "ichthyosis, congenital, autosomal recessive" EXACT [OMIMPS:242300]
synonym: "inherited ichthyosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:0060655 {source="MONDO:equivalentTo"}
xref: GARD:21106 {source="MONDO:GARD"}
xref: icd11.foundation:430849255 {source="Orphanet:281097", source="MONDO:equivalentTo"}
xref: MEDGEN:697564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200615 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200991 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:242300 {source="DOID:0060655", source="MONDO:equivalentTo"}
xref: Orphanet:281097 {source="DOID:0060655", source="MONDO:equivalentTo"}
xref: UMLS:C1274215 {source="MEDGEN:697564", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0015947 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited ichthyosis
relationship: excluded_subClassOf MONDO:0017262 {source="Orphanet:281097", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited non-syndromic ichthyosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:242300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0017266
name: keratinopathic ichthyosis
subset: disease_grouping
subset: gard_rare {source="GARD:21107", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:281103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KPI" EXACT ABBREVIATION [Orphanet:281103]
xref: GARD:21107 {source="MONDO:GARD"}
xref: icd11.foundation:992865924 {source="MONDO:equivalentTo", source="Orphanet:281103", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1393111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200610 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200987 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:281103 {source="MONDO:equivalentTo"}
xref: SCTID:724837004 {source="MONDO:equivalentTo"}
xref: UMLS:C4511307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1393111"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI

[Term]
id: MONDO:0017267
name: self-healing collodion baby
def: "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." [Orphanet:281122]
subset: gard_rare {source="GARD:17303", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:281122"}
subset: orphanet_rare {source="Orphanet:281122"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "self-improving collodion baby" RELATED [Orphanet:281122]
synonym: "self-improving congenital ichthyosis" EXACT [Orphanet:281122]
synonym: "SHCB" EXACT ABBREVIATION [Orphanet:281122]
synonym: "SICI" EXACT ABBREVIATION [Orphanet:281122]
xref: GARD:17303 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="Orphanet:281122", source="Orphanet:281122/attributed", source="Orphanet:281122/ntbt"}
xref: MEDGEN:383772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565473 {source="MONDO:equivalentTo"}
xref: Orphanet:281122 {source="MONDO:equivalentTo"}
xref: SCTID:718632004 {source="MONDO:equivalentTo"}
xref: UMLS:C1855789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383772"}
is_a: MONDO:0017265 {source="Orphanet:281122"} ! autosomal recessive congenital ichthyosis

[Term]
id: MONDO:0017268
name: acral self-healing collodion baby
def: "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities." [Orphanet:281127]
subset: gard_rare {source="GARD:21108", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:281127"}
subset: orphanet_rare {source="Orphanet:281127"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acral SHCB" EXACT [Orphanet:281127]
xref: GARD:21108 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="Orphanet:281127/attributed", source="Orphanet:281127/ntbt", source="Orphanet:281127"}
xref: MEDGEN:930993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:281127 {source="MONDO:equivalentTo"}
xref: SCTID:718633009 {source="MONDO:equivalentTo"}
xref: UMLS:C4305324 {source="MEDGEN:930993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="Orphanet:281127"} ! autosomal recessive congenital ichthyosis

[Term]
id: MONDO:0017269
name: X-linked ichthyosis syndrome
def: "X-linked form of inherited ichthyosis syndromic form." [MONDO:patterns/x_linked]
comment: Editor note: check relationship to syndromic recessive X-linked ichthyosis
subset: disease_grouping
subset: gard_rare {source="GARD:21109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:281210"}
subset: rare
synonym: "inherited ichthyosis syndromic form, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked inherited ichthyosis syndromic form" EXACT [MONDO:design_pattern]
xref: GARD:21109 {source="MONDO:GARD"}
xref: MedDRA:10048063 {source="Orphanet:281210", source="Orphanet:281210/e"}
xref: Orphanet:281210 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0017270
name: obsolete autosomal ichthyosis syndrome
subset: ordo_group_of_disorders {source="Orphanet:281217"}
xref: GARD:21110 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:281217 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017271
name: obsolete autosomal ichthyosis syndrome with prominent hair abnormalities
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis'
subset: ordo_group_of_disorders {source="Orphanet:281222"}
xref: GARD:21111 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:281222 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015947

[Term]
id: MONDO:0017272
name: obsolete autosomal ichthyosis syndrome with prominent neurologics signs
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis'
subset: ordo_group_of_disorders {source="Orphanet:281238"}
synonym: "autosomal ichthyosis syndrome with prominent neurologic signs" RELATED [Orphanet:281238]
xref: GARD:21112 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:281238 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015947

[Term]
id: MONDO:0017273
name: obsolete autosomal ichthyosis syndrome with fatal disease course
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis'
subset: ordo_group_of_disorders {source="Orphanet:281241"}
xref: GARD:21113 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:281241 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015947

[Term]
id: MONDO:0017274
name: obsolete autosomal ichthyosis syndrome with other associated signs
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015947
consider: MONDO:0017270

[Term]
id: MONDO:0017275
name: spastic paraplegia-facial-cutaneous lesions syndrome
def: "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982." [Orphanet:2819]
subset: gard_rare {source="GARD:806", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2819"}
subset: ordo_malformation_syndrome {source="Orphanet:2819"}
subset: orphanet_rare {source="Orphanet:2819"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bahemuka Brown syndrome" RELATED [GARD:0000806]
synonym: "Bahemuka-Brown syndrome" EXACT [Orphanet:2819]
synonym: "spastic paraplegia facial cutaneous lesions" RELATED [GARD:0000806]
xref: GARD:806 {source="MONDO:GARD"}
xref: MEDGEN:419453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537797 {source="MONDO:equivalentTo"}
xref: Orphanet:2819 {source="MONDO:equivalentTo"}
xref: SCTID:763403007 {source="MONDO:equivalentTo"}
xref: UMLS:C2931617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419453"}
is_a: MONDO:0015087 {source="Orphanet:2819"} ! autosomal dominant complex spastic paraplegia

[Term]
id: MONDO:0017276
name: frontotemporal dementia
def: "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy." [Orphanet:282]
subset: disease_grouping
subset: gard_rare {source="GARD:8436", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "frontotemporal lobar degeneration" EXACT [DOID:9255]
synonym: "frontotemporal lobe dementia (FLDEM)" RELATED [GARD:0008436]
synonym: "FTD" EXACT ABBREVIATION [Orphanet:282]
synonym: "MSTD" RELATED ABBREVIATION [GARD:0008436]
synonym: "multiple system tauopathy with presenile dementia" EXACT [DOID:9255]
synonym: "pallidopontonigral degeneration" EXACT [DOID:9255]
synonym: "Wilhemsen-Lynch disease" EXACT [DOID:9255]
xref: DOID:9255 {source="MONDO:equivalentTo"}
xref: GARD:8436 {source="MONDO:GARD"}
xref: ICD10CM:G31.0 {source="Orphanet:282", source="Orphanet:282/attributed", source="Orphanet:282/ntbt"}
xref: icd11.foundation:831337417 {source="MONDO:equivalentTo", source="Orphanet:282"}
xref: MedDRA:10068968 {source="Orphanet:282", source="Orphanet:282/e"}
xref: MEDGEN:83266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563003 {source="DOID:9255"}
xref: MESH:D057180 {source="MONDO:equivalentTo", source="Orphanet:282", source="Orphanet:282/e"}
xref: NANDO:1200548 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84719 {source="MONDO:equivalentTo"}
xref: Orphanet:282 {source="MONDO:equivalentTo", source="DOID:9255"}
xref: SCTID:42369001 {source="DOID:9255"}
xref: UMLS:C0338451 {source="MEDGEN:83266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001627 {source="DOID:9255", source="MESH:D057180/inferred", source="MONDO:Redundant", source="NCIT:C84719"} ! dementia
is_a: MONDO:0005559 ! neurodegenerative disease
is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:282", source="Orphanet:282/inferred"} ! hereditary dementia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:282", source="Orphanet:282/inferred"} ! inherited neurodegenerative disorder
relationship: disease_has_feature HP:0002145 ! Frontotemporal dementia
relationship: excluded_subClassOf MONDO:0003996 {source="DOID:9255", source="https://orcid.org/0000-0001-5208-3432"} ! basal ganglia disorder

[Term]
id: MONDO:0017277
name: partial deletion of chromosome 12
subset: disease_grouping
subset: gard_rare {source="GARD:21115", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:282124"}
subset: rare
synonym: "partial deletion of chromosome type 12" EXACT [MONDORULE:2, Orphanet:282124]
synonym: "partial monosomy of chromosome 12" EXACT [Orphanet:282124]
xref: GARD:21115 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:282124", source="Orphanet:282124/attributed", source="Orphanet:282124/ntbt"}
xref: MEDGEN:1826080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:282124 {source="MONDO:equivalentTo"}
xref: UMLS:C5680422 {source="MONDO:equivalentTo", source="MEDGEN:1826080", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr12 ! chromosome 12 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017278
name: autoimmune polyendocrinopathy
def: "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." [NCIT:C129726]
subset: disease_grouping
subset: gard_rare {source="GARD:21116", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:790"}
subset: ordo_group_of_disorders {source="Orphanet:282196"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Antiphospholipid Syndrome" EXACT [NORD:790]
synonym: "APS" EXACT ABBREVIATION [Orphanet:282196]
synonym: "autoimmune polyendocrine syndrome" EXACT [DOID:14040]
synonym: "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome" EXACT [NCIT:C129726]
synonym: "autoimmune polyendocrinopathy" EXACT [DOID:14040, NCIT:C84576]
synonym: "autoimmune polyendocrinopathy syndrome" EXACT [MONDO:0001865, NCIT:C84576]
synonym: "autoimmune polyglandular failure" EXACT [DOID:14040]
synonym: "autoimmune polyglandular syndrome" EXACT [Orphanet:282196]
synonym: "autoimmune polyglandular syndrome(s)" EXACT [NCIT:C129726]
synonym: "Lloyd's syndrome" EXACT [DOID:14040]
xref: DOID:14040 {source="MONDO:equivalentTo"}
xref: GARD:21116 {source="MONDO:GARD"}
xref: ICD10CM:E31.0 {source="Orphanet:282196/ntbt", source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo"}
xref: icd11.foundation:548357900 {source="Orphanet:282196", source="MONDO:equivalentTo"}
xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016884 {source="DOID:14040"}
xref: NANDO:2100125 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129726 {source="MONDO:equivalentTo"}
xref: NCIT:C84576 {source="DOID:14040", source="MONDO:equivalentTo"}
xref: NORD:790 {source="MONDO:NORD"}
xref: Orphanet:282196 {source="MONDO:equivalentTo"}
xref: SCTID:18947001 {source="DOID:14040"}
xref: SCTID:190567009 {source="DOID:14040"}
xref: SCTID:190568004 {source="DOID:14040"}
xref: SCTID:41864002 {source="DOID:14040", source="MONDO:equivalentTo"}
xref: UMLS:C0085409 {source="MEDGEN:39042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000569 {source="DOID:14040", source="MONDO:Redundant"} ! autoimmune disorder of endocrine system
is_a: MONDO:0002254 {source="NCIT:C129726"} ! syndromic disease
is_a: MONDO:0015126 {source="MONDO:Redundant", source="Orphanet:282196"} ! polyendocrinopathy

[Term]
id: MONDO:0017279
name: young-onset Parkinson disease
def: "A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms." [Orphanet:2828]
subset: gard_rare {source="GARD:16610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2828"}
subset: orphanet_rare {source="Orphanet:2828"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset Parkinson disease" EXACT [Orphanet:2828]
synonym: "early-onset Parkinson's disease" RELATED [DOID:0060894]
synonym: "YOPD" EXACT ABBREVIATION [Orphanet:2828]
xref: DOID:0060894 {source="MONDO:equivalentTo"}
xref: GARD:16610 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="Orphanet:2828/attributed", source="Orphanet:2828/ntbt", source="Orphanet:2828"}
xref: MEDGEN:907947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2828 {source="MONDO:equivalentTo"}
xref: Orphanet:391411 {source="DOID:0060894", source="MONDO:directSiblingOf"}
xref: SCTID:715345007 {source="MONDO:equivalentTo"}
xref: UMLS:C4275179 {source="MEDGEN:907947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005180 {source="DOID:0060894", source="https://orcid.org/0000-0001-5208-3432"} ! Parkinson disease
is_a: MONDO:0021095 {source="https://orcid.org/0000-0001-5208-3432"} ! parkinsonian disorder
relationship: excluded_subClassOf MONDO:0015914 {source="Orphanet:2828", source="https://orcid.org/0000-0001-5208-3432"} ! primary orthostatic hypotension
relationship: has_onset_before HsapDv:0000144 {source="https://medlineplus.gov/genetics/condition/parkinson-disease/"} ! 50-year-old stage
relationship: has_onset_during_or_after HsapDv:0000114 {source="https://medlineplus.gov/genetics/condition/parkinson-disease/"} ! 20-year-old stage

[Term]
id: MONDO:0017280
name: demodicidosis
def: "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." [Orphanet:283]
subset: gard_rare {source="GARD:1802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:283"}
subset: orphanet_rare {source="Orphanet:283"}
subset: rare
synonym: "demodectic mange" EXACT NON_HUMAN [https://en.wikipedia.org/wiki/Demodicosis]
synonym: "Demodex caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Demodex disease or disorder" EXACT []
synonym: "Demodex infectious disease" EXACT []
synonym: "Demodicosis" EXACT [Orphanet:283]
synonym: "red mange" EXACT NON_HUMAN [https://en.wikipedia.org/wiki/Demodicosis]
xref: GARD:1802 {source="MONDO:GARD"}
xref: ICD10CM:B88.0 {source="Orphanet:283", source="Orphanet:283/ntbt"}
xref: icd11.foundation:1473144548 {source="MONDO:equivalentTo", source="Orphanet:283", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:283 {source="MONDO:equivalentTo"}
is_a: MONDO:0005135 {source="Orphanet:283"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:188544 ! Demodex
relationship: disease_has_location UBERON:0002199 ! integument
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1802/demodicidosis" xsd:anyURI {source="GARD:0001802"}

[Term]
id: MONDO:0017281
name: renal caliceal diverticuli-deafness syndrome
subset: gard_rare {source="GARD:4655", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2838"}
subset: ordo_malformation_syndrome {source="Orphanet:2838"}
subset: orphanet_rare {source="Orphanet:2838"}
subset: rare
xref: GARD:4655 {source="MONDO:GARD"}
xref: MEDGEN:1676118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2838 {source="MONDO:equivalentTo"}
xref: UMLS:C5190738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676118"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0017282
name: alveolar echinococcosis
def: "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice." [Orphanet:284]
subset: gard_rare {source="GARD:207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284"}
subset: orphanet_rare {source="Orphanet:284"}
subset: rare
synonym: "alveolococcosis" EXACT [DOID:12148]
synonym: "echinococcosis" BROAD [GARD:0000207]
synonym: "Echinococcus multilocularis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echinococcus multilocularis disease or disorder" EXACT []
synonym: "Echinococcus multilocularis infection" EXACT [Orphanet:284]
synonym: "echinococcus multilocularis infection" RELATED [DOID:12148]
synonym: "Echinococcus multilocularis infectious disease" EXACT []
synonym: "multilocular hydatid" EXACT [DOID:12148]
synonym: "small fox tapeworm" EXACT [DOID:12148]
xref: DOID:12148 {source="MONDO:equivalentTo"}
xref: GARD:207 {source="MONDO:GARD"}
xref: ICD10CM:B67.5 {source="Orphanet:284/btnt", source="Orphanet:284"}
xref: ICD10CM:B67.6 {source="Orphanet:284/btnt", source="Orphanet:284", source="DOID:12148"}
xref: ICD10CM:B67.7 {source="Orphanet:284/btnt", source="Orphanet:284", source="DOID:12148"}
xref: ICD9:122.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12148"}
xref: MedDRA:10053042 {source="Orphanet:284/e", source="Orphanet:284"}
xref: MEDGEN:508867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536591 {source="Orphanet:284/e", source="MONDO:equivalentTo", source="Orphanet:284"}
xref: Orphanet:284 {source="MONDO:equivalentTo"}
xref: SCTID:21009004 {source="MONDO:equivalentTo", source="DOID:12148"}
xref: SCTID:240816000 {source="DOID:12148"}
xref: UMLS:C0152069 {source="MEDGEN:508867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="Orphanet:284"} ! parasitic infectious disease
is_a: MONDO:0005738 {source="DOID:12148", source="MESH:C536591/inferred", source="MONDO:Redundant"} ! echinococcosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6211 ! Echinococcus multilocularis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0017283
name: DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion
subset: gard_rare {source="GARD:17311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:284169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "10p12p11 microdeletion syndrome" EXACT [Orphanet:284169]
synonym: "Del(10)(p11.21p12.31)" EXACT [Orphanet:284169]
synonym: "deletion 10p11.21p12.31" EXACT [Orphanet:284169]
synonym: "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" EXACT [Orphanet:284169]
synonym: "monosomy 10p11.21p12.31" EXACT [Orphanet:284169]
xref: GARD:17311 {source="MONDO:GARD"}
xref: MEDGEN:1681325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284169 {source="MONDO:equivalentTo"}
xref: UMLS:C5190804 {source="MEDGEN:1681325", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016892 {source="Orphanet:284169"} ! partial deletion of the short arm of chromosome 10
is_a: MONDO:0018760 {source="https://clinicalgenome.org/affiliation/40006/"} ! DeSanto-Shinawi syndrome
relationship: disease_arises_from_structure CHR:9606-chr10p11.21-p12.31 {source="https://orcid.org/0000-0002-4142-7153"} ! 10p11.21-p12.31 (Human)
relationship: excluded_subClassOf MONDO:0014741 {source="https://orcid.org/0000-0001-5208-3432"} ! DeSanto-Shinawi syndrome due to WAC point mutation
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5424" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5546" xsd:anyURI

[Term]
id: MONDO:0017284
name: Xp22.13p22.2 duplication syndrome
subset: gard_rare {source="GARD:21117", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284180"}
subset: ordo_malformation_syndrome {source="Orphanet:284180"}
subset: orphanet_rare {source="Orphanet:284180"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dup(X)(p22)" EXACT [Orphanet:284180]
synonym: "dup(X)(p22.13p22.2)" EXACT [Orphanet:284180]
synonym: "Duplication Xp22" EXACT [Orphanet:284180]
xref: GARD:21117 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:284180/attributed", source="Orphanet:284180/ntbt", source="Orphanet:284180"}
xref: MEDGEN:1684472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284180 {source="MONDO:equivalentTo"}
xref: UMLS:C5190686 {source="MEDGEN:1684472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0015159 {source="Orphanet:284180"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0017009 {source="Orphanet:284180"} ! partial duplication of the short arm of chromosome X
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chrXp22.13-p22.2 ! Xp22.13-p22.2 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:284180", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017285
name: penoscrotal transposition
def: "Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)." [Orphanet:2842]
subset: gard_rare {source="GARD:4273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2842"}
subset: ordo_morphological_anomaly {source="Orphanet:2842"}
subset: orphanet_rare {source="Orphanet:2842"}
subset: rare
synonym: "congenital penoscrotal transposition" EXACT [NCIT:C99010]
synonym: "congenital transposition of the penis" RELATED [GARD:0004273]
synonym: "penoscrotal transposition" EXACT [MONDO:ambiguous]
synonym: "penoscrotal transposition (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Prepenile scrotum" RELATED [GARD:0004273]
xref: GARD:4273 {source="MONDO:GARD"}
xref: HP:0100600 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q55.8 {source="Orphanet:2842", source="Orphanet:2842/ntbt"}
xref: MedDRA:10067287 {source="Orphanet:2842", source="Orphanet:2842/e"}
xref: MEDGEN:357036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536650 {source="MONDO:equivalentTo", source="Orphanet:2842", source="Orphanet:2842/e"}
xref: NCIT:C99010 {source="MONDO:equivalentTo"}
xref: Orphanet:2842 {source="MONDO:equivalentTo"}
xref: SCTID:312005008 {source="MONDO:equivalentTo"}
xref: UMLS:C1868854 {source="MEDGEN:357036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="https://orcid.org/0000-0002-5002-8648"} ! male reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "penoscrotal transposition (disease)" xsd:string

[Term]
id: MONDO:0017286
name: tempi syndrome
def: "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." [Orphanet:284227]
subset: gard_rare {source="GARD:10962", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:284227"}
subset: ordo_disorder {source="Orphanet:284227"}
subset: orphanet_rare {source="Orphanet:284227"}
subset: rare
synonym: "telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting" RELATED [GARD:0010962]
synonym: "telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome" EXACT [Orphanet:284227]
xref: GARD:10962 {source="MONDO:GARD"}
xref: MEDGEN:886502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121656 {source="MONDO:equivalentTo"}
xref: Orphanet:284227 {source="MONDO:equivalentTo"}
xref: SCTID:718614004 {source="MONDO:equivalentTo"}
xref: UMLS:C3854394 {source="MONDO:equivalentTo", source="MEDGEN:886502", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C121656"} ! syndromic disease
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-1780-5230"} ! autoimmune disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome" xsd:anyURI {source="GARD:0010962"}

[Term]
id: MONDO:0017287
name: IgG4-related disease
def: "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased." [NCIT:C95992]
subset: disease_grouping
subset: gard_rare {source="GARD:12521", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:596448"}
subset: ordo_group_of_disorders {source="Orphanet:284264"}
subset: orphanet_rare {source="Orphanet:596448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyper-IgG4 disease" RELATED [GARD:0012521]
synonym: "IgG4-associated disease" RELATED [GARD:0012521]
synonym: "IgG4-positive multiorgan lymphoproliferative syndrome" RELATED [GARD:0012521]
synonym: "IgG4-RD" EXACT ABBREVIATION [Orphanet:596448]
synonym: "IgG4-related autoimmune disease" RELATED [GARD:0012521]
synonym: "IgG4-related sclerosing disease" EXACT [Orphanet:284264]
synonym: "IgG4-related systemic disease" EXACT [Orphanet:284264]
synonym: "IgG4-related systemic sclerosing disease" RELATED [GARD:0012521]
synonym: "IgG4-syndrome" RELATED [GARD:0012521]
synonym: "Immunoglobulin G4-related sclerosing disease" EXACT [Orphanet:284264]
synonym: "multifocal fibrosclerosis" RELATED [GARD:0012521]
synonym: "multifocal idiopathic fibrosclerosis" RELATED [GARD:0012521]
synonym: "systemic IgG4-related plasmacytic syndrome" RELATED [GARD:0012521]
synonym: "systemic IgG4-related sclerosing syndrome" RELATED [GARD:0012521]
xref: DOID:0080356 {source="MONDO:equivalentTo"}
xref: GARD:12521 {source="MONDO:GARD"}
xref: icd11.foundation:99883782 {source="Orphanet:284264", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10071569 {source="Orphanet:284264", source="Orphanet:284264/e"}
xref: MEDGEN:473761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200923 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200924 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C95992 {source="MONDO:equivalentTo"}
xref: Orphanet:284264 {source="DOID:0080356", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:596448 {source="MONDO:equivalentTo"}
xref: UMLS:C3203653 {source="MEDGEN:473761", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="MONDO:Redundant", source="NCIT:C95992"} ! immune system disorder
is_a: MONDO:0007179 {source="DOID:0080356"} ! autoimmune disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3539" xsd:anyURI

[Term]
id: MONDO:0017288
name: obsolete DICER1 syndrome
subset: otar {source="MONDO:OTAR"}
xref: EFO:0009068 {source="MONDO:obsoleteEquivalent", source="MONDO:EFO"}
xref: GARD:10734 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6460" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100216

[Term]
id: MONDO:0017289
name: fetal lung interstitial tumor
subset: gard_rare {source="GARD:21118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:284362"}
subset: rare
synonym: "flit" EXACT [Orphanet:284362]
synonym: "immature interstitial mesenchymal tumor" EXACT [Orphanet:284362]
synonym: "immature interstitial mesenchymal tumour" EXACT OMO:0003005 []
xref: GARD:21118 {source="MONDO:GARD"}
xref: MEDGEN:1830091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284362 {source="MONDO:equivalentTo"}
xref: UMLS:C5679952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830091"}
is_a: MONDO:0011014 {source="Orphanet:284362"} ! pleuropulmonary blastoma

[Term]
id: MONDO:0017290
name: familial intrahepatic cholestasis
def: "An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:21119", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:284385"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary intrahepatic cholestasis" EXACT [MONDO:patterns/hereditary]
xref: GARD:21119 {source="MONDO:GARD"}
xref: ICD10CM:K83.1 {source="Orphanet:284385/attributed", source="Orphanet:284385/ntbt", source="Orphanet:284385"}
xref: ICD9:576.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:284385 {source="MONDO:equivalentTo"}
xref: SCTID:74162007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="Orphanet:284385"} ! metabolic disease
is_a: MONDO:0005154 {source="https://orcid.org/0000-0002-5002-8648"} ! liver disorder
intersection_of: MONDO:0019072 ! intrahepatic cholestasis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI

[Term]
id: MONDO:0017291
name: reversible cerebral vasoconstriction syndrome
def: "Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries." [Orphanet:284388]
subset: gard_rare {source="GARD:12768", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:284388"}
subset: ordo_disorder {source="Orphanet:284388"}
subset: orphanet_rare {source="Orphanet:284388"}
subset: rare
synonym: "RCVS" EXACT ABBREVIATION [Orphanet:284388]
xref: GARD:12768 {source="MONDO:GARD"}
xref: ICD10CM:I67.8 {source="Orphanet:284388", source="Orphanet:284388/ntbt"}
xref: ICD9:437.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:811291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284388 {source="MONDO:equivalentTo"}
xref: SCTID:700467001 {source="MONDO:equivalentTo"}
xref: UMLS:C3544214 {source="MEDGEN:811291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021146 {source="Orphanet:284388"} ! headache disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020011"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome" xsd:anyURI {source="GARD:0012768"}

[Term]
id: MONDO:0017292
name: well-differentiated fetal adenocarcinoma of the lung
def: "Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss." [Orphanet:284395]
subset: gard_rare {source="GARD:21120", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284395"}
subset: orphanet_rare {source="Orphanet:284395"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fetal adenocarcinoma" EXACT [NCIT:C45509]
synonym: "fetal lung adenocarcinoma" EXACT [NCIT:C45509]
synonym: "foetal adenocarcinoma" EXACT OMO:0003005 []
synonym: "foetal lung adenocarcinoma" EXACT OMO:0003005 []
synonym: "pulmonary adenocarcinoma of fetal type" EXACT [NCIT:C45509]
synonym: "pulmonary adenocarcinoma of foetal type" EXACT OMO:0003005 []
synonym: "pulmonary endodermal tumor resembling fetal lung" EXACT [NCIT:C45509]
synonym: "pulmonary endodermal tumour resembling foetal lung" EXACT OMO:0003005 []
synonym: "WDFA" EXACT ABBREVIATION [Orphanet:284395]
synonym: "well-differentiated fetal lung adenocarcinoma" EXACT [NCIT:C45509]
synonym: "well-differentiated foetal lung adenocarcinoma" EXACT OMO:0003005 []
xref: GARD:21120 {source="MONDO:GARD"}
xref: ICD10CM:C34.1 {source="Orphanet:284395", source="Orphanet:284395/btnt"}
xref: ICD10CM:C34.2 {source="Orphanet:284395", source="Orphanet:284395/btnt"}
xref: ICD10CM:C34.3 {source="Orphanet:284395", source="Orphanet:284395/btnt"}
xref: ICD10CM:C34.8 {source="Orphanet:284395", source="Orphanet:284395/btnt"}
xref: ICDO:8333/3 {source="NCIT:C45509"}
xref: MEDGEN:843585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45509 {source="MONDO:equivalentTo"}
xref: Orphanet:284395 {source="MONDO:equivalentTo"}
xref: UMLS:C3873372 {source="MEDGEN:843585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005061 {source="NCIT:C45509"} ! lung adenocarcinoma
is_a: MONDO:0005606 {source="NCIT:C45509"} ! tubular adenocarcinoma

[Term]
id: MONDO:0017293
name: obsolete small cell carcinoma of the bladder
is_obsolete: true
replaced_by: MONDO:0004114

[Term]
id: MONDO:0017294
name: glycerol kinase deficiency, infantile form
def: "Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." [Orphanet:284408]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:E74.8 {source="Orphanet:284408", source="Orphanet:284408/attributed", source="Orphanet:284408/ntbt"}
xref: Orphanet:284408 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0010613 {source="Orphanet:284408/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! inborn glycerol kinase deficiency
is_a: MONDO:0019225 {source="PMID:33340416"} ! disorder of gluconeogenesis
relationship: excluded_subClassOf MONDO:0018459 {source="Orphanet:284408", source="https://orcid.org/0000-0001-5208-3432"} ! isolated glycerol kinase deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017295
name: glycerol kinase deficiency, juvenile form
def: "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." [Orphanet:284411]
subset: gard_rare {source="GARD:17316", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:284411"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17316 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:284411", source="Orphanet:284411/attributed", source="Orphanet:284411/ntbt"}
xref: MEDGEN:1842281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284411 {source="MONDO:equivalentTo"}
xref: UMLS:C5681029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842281"}
is_a: MONDO:0018459 {source="Orphanet:284411"} ! isolated glycerol kinase deficiency
is_a: MONDO:0019225 {source="PMID:33340416"} ! disorder of gluconeogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017296
name: glycerol kinase deficiency, adult form
def: "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." [Orphanet:284414]
subset: gard_rare {source="GARD:17317", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:284414"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17317 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:284414", source="Orphanet:284414/attributed", source="Orphanet:284414/ntbt"}
xref: MEDGEN:1842796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284414 {source="MONDO:equivalentTo"}
xref: UMLS:C5681013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842796"}
is_a: MONDO:0018459 {source="Orphanet:284414"} ! isolated glycerol kinase deficiency
is_a: MONDO:0019225 {source="PMID:33340416"} ! disorder of gluconeogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017297
name: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids {xref="Orphanet:284448"}
subset: gard_rare {source="GARD:10779", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284448"}
subset: orphanet_rare {source="Orphanet:284448"}
subset: rare
synonym: "CLIPPERS" EXACT [Orphanet:284448]
xref: GARD:10779 {source="MONDO:GARD"}
xref: MEDGEN:1433964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284448 {source="MONDO:equivalentTo"}
xref: UMLS:C3854437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1433964"}
is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder

[Term]
id: MONDO:0017298
name: acute zonal occult outer retinopathy
def: "Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy." [https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy]
subset: gard_rare {source="GARD:8640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284454"}
subset: orphanet_rare {source="Orphanet:284454"}
subset: rare
synonym: "AZOOR" EXACT ABBREVIATION [Orphanet:284454]
xref: GARD:8640 {source="MONDO:GARD"}
xref: ICD9:362.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:196452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538223 {source="MONDO:equivalentTo"}
xref: Orphanet:284454 {source="MONDO:equivalentTo"}
xref: SCTID:312929003 {source="MONDO:equivalentTo"}
xref: UMLS:C0730298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196452"}
is_a: MONDO:0005328 ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy" xsd:anyURI {source="GARD:0008640"}

[Term]
id: MONDO:0017299
name: acute annular outer retinopathy
subset: gard_rare {source="GARD:21121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284460"}
subset: orphanet_rare {source="Orphanet:284460"}
subset: rare
synonym: "AAOR" EXACT ABBREVIATION [Orphanet:284460]
xref: GARD:21121 {source="MONDO:GARD"}
xref: MEDGEN:1684428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284460 {source="MONDO:equivalentTo"}
xref: UMLS:C5191002 {source="MEDGEN:1684428", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0017300
name: congenital pericardium anomaly
def: "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst)." [Orphanet:2846]
subset: disease_grouping
subset: gard_rare {source="GARD:18779", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:2846"}
subset: rare
xref: GARD:18779 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:2846/ntbt", source="Orphanet:2846"}
xref: icd11.foundation:1188459532 {source="MONDO:equivalentTo", source="Orphanet:2846", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:672640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2846 {source="MONDO:equivalentTo"}
xref: SCTID:93018000 {source="MONDO:equivalentTo"}
xref: UMLS:C0685699 {source="MONDO:equivalentTo", source="MEDGEN:672640", source="MONDO:MEDGEN"}
is_a: MONDO:0019512 {source="Orphanet:2846"} ! congenital heart malformation

[Term]
id: MONDO:0017301
name: pericardial and diaphragmatic defect
def: "Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." [Orphanet:2847]
subset: gard_rare {source="GARD:18780", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2847"}
subset: ordo_malformation_syndrome {source="Orphanet:2847"}
subset: orphanet_rare {source="Orphanet:2847"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18780 {source="MONDO:GARD"}
xref: MEDGEN:1373904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2847 {source="MONDO:equivalentTo"}
xref: UMLS:C4510305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373904"}
is_a: MONDO:0021147 {source="Orphanet:2847"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI

[Term]
id: MONDO:0017302
name: obsolete qualitative or quantitative defects of troponin
subset: ordo_group_of_disorders {source="Orphanet:284786"}
xref: GARD:21122 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:284786 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017303
name: qualitative or quantitative defects of tropomyosin
subset: disease_grouping
subset: gard_rare {source="GARD:21123", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:284790"}
subset: rare
xref: GARD:21123 {source="MONDO:GARD"}
xref: MEDGEN:1842978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284790 {source="MONDO:equivalentTo"}
xref: UMLS:C5681012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842978"}
is_a: MONDO:0016139 {source="Orphanet:284790"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0017304
name: ocular albinism
def: "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity." [MESH:D016117]
subset: disease_grouping
subset: gard_rare {source="GARD:21124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1516"}
subset: ordo_group_of_disorders {source="Orphanet:284804"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ocular albinism" EXACT [MONDO:ambiguous]
synonym: "ocular albinism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54]
xref: DOID:0050633 {source="MONDO:equivalentTo"}
xref: GARD:21124 {source="MONDO:GARD"}
xref: HP:0001107 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E70.3 {source="Orphanet:284804", source="Orphanet:284804/ntbt", source="Orphanet:284804/inclusion"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10065276 {source="Orphanet:284804", source="Orphanet:284804/e"}
xref: MEDGEN:38147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016117 {source="MONDO:equivalentTo"}
xref: NORD:1516 {source="MONDO:NORD"}
xref: Orphanet:284804 {source="MONDO:equivalentTo"}
xref: SCTID:26399002 {source="MONDO:equivalentTo"}
xref: UMLS:C0078917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38147"}
is_a: MONDO:0018134 {source="Orphanet:284804"} ! disorder of melanin metabolism
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000589 "ocular albinism (disease)" xsd:string

[Term]
id: MONDO:0017305
name: syndromic oculocutaneous albinism
def: "A oculocutaneous albinism that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: disease_grouping
subset: gard_rare {source="GARD:21125", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:284811"}
subset: rare
synonym: "syndrome associated with oculocutaneous albinism" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic oculocutaneous albinism" EXACT [MONDO:patterns/syndromic]
xref: GARD:21125 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:284811/attributed", source="Orphanet:284811/ntbt", source="Orphanet:284811"}
xref: MEDGEN:1843078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284811 {source="MONDO:equivalentTo"}
xref: UMLS:C5681016 {source="MEDGEN:1843078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0018134 ! disorder of melanin metabolism
is_a: MONDO:0019290 ! hypopigmentation of the skin
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0017306
name: disorder of phenylalanine metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21126", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:284814"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21126 {source="MONDO:GARD"}
xref: ICD10CM:E70.0 {source="Orphanet:284814/specific", source="Orphanet:284814/btnt", source="Orphanet:284814"}
xref: ICD10CM:E70.1 {source="Orphanet:284814/specific", source="Orphanet:284814/btnt", source="Orphanet:284814"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:541325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284814 {source="MONDO:equivalentTo"}
xref: SCTID:12957008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541325"}
is_a: MONDO:0019235 {source="Orphanet:284814"} ! inborn disorder of phenylalanine and tyrosine metabolism
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:0006558 ! L-phenylalanine metabolic process

[Term]
id: MONDO:0017307
name: disorder of tyrosine metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21127", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:284818"}
subset: rare
xref: GARD:21127 {source="MONDO:GARD"}
xref: ICD10CM:E70.2 {source="Orphanet:284818", source="Orphanet:284818/e", source="Orphanet:284818/specific"}
xref: icd11.foundation:1842978338 {source="Orphanet:284818", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:541330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284818 {source="MONDO:equivalentTo"}
xref: SCTID:37200009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268482 {source="MEDGEN:541330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019235 {source="Orphanet:284818"} ! inborn disorder of phenylalanine and tyrosine metabolism
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:0006570 ! tyrosine metabolic process

[Term]
id: MONDO:0017308
name: obsolete Marfan syndrome type 2
def: "OBSOLETE. Hypothesized form of Marfan; dubious" [https://github.com/monarch-initiative/monarch-disease-ontology/issues/101]
subset: ordo_subtype_of_a_disorder {source="Orphanet:284973"}
subset: speculative
synonym: "Marfan syndrome type II" EXACT [NCIT:C75007]
synonym: "MFS2" EXACT ABBREVIATION [Orphanet:284973]
xref: GARD:17318 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.4 {source="Orphanet:284973", source="Orphanet:284973/attributed", source="Orphanet:284973/ntbt"}
xref: MESH:C535911 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C75007 {source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:284973 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: MONDO:0012427

[Term]
id: MONDO:0017309
name: neonatal Marfan syndrome
def: "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." [Orphanet:284979]
subset: gard_rare {source="GARD:21128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:284979"}
subset: orphanet_rare {source="Orphanet:284979"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neonatal MFS" EXACT [Orphanet:284979]
xref: GARD:21128 {source="MONDO:GARD"}
xref: ICD10CM:Q87.4 {source="Orphanet:284979/attributed", source="Orphanet:284979/ntbt", source="Orphanet:284979"}
xref: MEDGEN:864491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284979 {source="MONDO:equivalentTo"}
xref: SCTID:763839005 {source="MONDO:equivalentTo"}
xref: UMLS:C4016054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864491"}
is_a: MONDO:0005385 ! vascular disorder
is_a: MONDO:0007947 {source="https://orcid.org/0000-0002-1780-5230"} ! Marfan syndrome
is_a: MONDO:0017310 {source="Orphanet:284979"} ! Marfan and Marfan-related disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0017310
name: Marfan and Marfan-related disorder
subset: disease_grouping
subset: gard_rare {source="GARD:21129", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:284993"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21129 {source="MONDO:GARD"}
xref: MEDGEN:1842966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:284993 {source="MONDO:equivalentTo"}
xref: UMLS:C5681015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842966"}
is_a: MONDO:0023603 {source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disorder of connective tissue

[Term]
id: MONDO:0017311
name: obsolete rare disease with thoracic aortic aneurysm and aortic dissection
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular disease'
subset: ordo_group_of_disorders {source="Orphanet:285014"}
xref: GARD:21130 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I71.1 {source="Orphanet:285014", source="Orphanet:285014/attributed", source="Orphanet:285014/ntbt"}
xref: ICD10CM:I71.2 {source="Orphanet:285014", source="Orphanet:285014/attributed", source="Orphanet:285014/ntbt"}
xref: Orphanet:285014 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005385

[Term]
id: MONDO:0017312
name: Perrault syndrome
def: "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." [Orphanet:2855]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2542", source="MONDO:GARD"}
subset: nord_rare {source="NORD:2031", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2855"}
subset: orphanet_rare {source="Orphanet:2855"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gonadal dysgenesis, XX type, with deafness" RELATED [GARD:0002542]
synonym: "Perrault syndrome" EXACT CLINGEN_LABEL []
synonym: "XX gonodal dysgenesis-deafness syndrome" EXACT [Orphanet:2855]
xref: DOID:0050857 {source="MONDO:equivalentTo"}
xref: GARD:2542 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2855", source="Orphanet:2855/attributed", source="Orphanet:2855/ntbt"}
xref: MEDGEN:151934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:2031 {source="MONDO:NORD"}
xref: OMIMPS:233400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2855 {source="MONDO:equivalentTo", source="DOID:0050857"}
xref: SCTID:93466004 {source="MONDO:equivalentTo"}
xref: UMLS:C0685838 {source="MEDGEN:151934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="DOID:0050857", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019852 {source="Orphanet:2855"} ! inherited primary ovarian failure
relationship: has_characteristic HP:0000007 {source="Orphanet:2855"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:233400"} ! inherited

[Term]
id: MONDO:0017313
name: disorder of folate metabolism and transport
subset: disease_grouping
subset: gard_rare {source="GARD:21131", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:285657"}
subset: rare
xref: GARD:21131 {source="MONDO:GARD"}
xref: icd11.foundation:2081529009 {source="MONDO:equivalentTo", source="Orphanet:285657", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:285657 {source="MONDO:equivalentTo"}
xref: UMLS:C5681010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842423"}
is_a: MONDO:0017758 {source="Orphanet:285657"} ! disorder of vitamin and non-protein cofactor absorption and transport

[Term]
id: MONDO:0017314
name: Ehlers-Danlos syndrome, vascular type
def: "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS." [Orphanet:286]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2082", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:286"}
subset: orphanet_rare {source="Orphanet:286"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS IV" EXACT [Orphanet:286]
synonym: "EDS IV (formerly)" RELATED [GARD:0002082]
synonym: "EDS type 4" EXACT [Orphanet:286]
synonym: "EDS type 4 (formerly)" RELATED [GARD:0002082]
synonym: "EDS4 (formerly)" RELATED [GARD:0002082]
synonym: "Ehlers Danlos syndrome, arterial type" RELATED [GARD:0002082]
synonym: "Ehlers Danlos syndrome, ecchymotic type" RELATED [GARD:0002082]
synonym: "Ehlers Danlos syndrome, sack-Barabas type" RELATED [GARD:0002082]
synonym: "Ehlers-Danlos syndrome type 4" EXACT [Orphanet:286]
synonym: "Ehlers-Danlos syndrome type 4 (formerly)" RELATED [GARD:0002082]
synonym: "Ehlers-Danlos syndrome type IV" EXACT [Orphanet:286]
synonym: "Ehlers-Danlos syndrome type IV (formerly)" RELATED [GARD:0002082]
synonym: "Ehlers-Danlos syndrome, type IV" EXACT [NCIT:C125699]
synonym: "Ehlers-Danlos syndrome, vascular type" EXACT CLINGEN_LABEL []
synonym: "sack-Barabas syndrome" EXACT [Orphanet:286]
synonym: "vascular EDS" RELATED [GARD:0002082]
synonym: "vascular Ehlers-Danlos syndrome" RELATED [GARD:0002082]
synonym: "vEDS" RELATED [GARD:0002082]
xref: GARD:2082 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:286/attributed", source="Orphanet:286/ntbt", source="Orphanet:286"}
xref: MEDGEN:82790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200648 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201258 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125699 {source="MONDO:equivalentTo"}
xref: Orphanet:286 {source="MONDO:equivalentTo"}
xref: SCTID:17025000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82790"}
is_a: MONDO:0005385 ! vascular disorder
is_a: MONDO:0020066 {source="NCIT:C125699", source="Orphanet:286"} ! Ehlers-Danlos syndrome
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0017315
name: short stature-webbed neck-heart disease syndrome
def: "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." [Orphanet:2865]
subset: gard_rare {source="GARD:583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2865"}
subset: ordo_malformation_syndrome {source="Orphanet:2865"}
subset: orphanet_rare {source="Orphanet:2865"}
subset: rare
synonym: "Al Gazali Aziz Salem syndrome" RELATED [GARD:0000583]
synonym: "Al Gazali-Aziz-Salem syndrome" EXACT [Orphanet:2865]
synonym: "short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease" RELATED [GARD:0000583]
synonym: "short stature, webbed neck, heart disease" RELATED [GARD:0000583]
xref: GARD:583 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2865", source="Orphanet:2865/attributed", source="Orphanet:2865/ntbt"}
xref: MEDGEN:419677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535613 {source="MONDO:equivalentTo"}
xref: Orphanet:2865 {source="MONDO:equivalentTo"}
xref: SCTID:721073008 {source="MONDO:equivalentTo"}
xref: UMLS:C2930950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419677"}
is_a: MONDO:0015159 {source="Orphanet:2865"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2865", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017316
name: short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
def: "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)." [Orphanet:2866]
subset: gard_rare {source="GARD:4841", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2866"}
subset: ordo_malformation_syndrome {source="Orphanet:2866"}
subset: orphanet_rare {source="Orphanet:2866"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short stature deafness neutrophil dysfunction" RELATED [GARD:0004841]
synonym: "thong Douglas Ferrante syndrome" RELATED [GARD:0004841]
synonym: "thong-Douglas-Ferrante syndrome" EXACT [Orphanet:2866]
xref: GARD:4841 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:2866", source="Orphanet:2866/attributed", source="Orphanet:2866/ntbt"}
xref: MEDGEN:906653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2866 {source="MONDO:equivalentTo"}
xref: SCTID:716192009 {source="MONDO:equivalentTo"}
xref: UMLS:C4274785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906653"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0017317
name: phakomatosis pigmentokeratotica
def: "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." [Orphanet:2874]
subset: gard_rare {source="GARD:4311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2874"}
subset: ordo_malformation_syndrome {source="Orphanet:2874"}
subset: orphanet_rare {source="Orphanet:2874"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies" RELATED [GARD:0004311]
synonym: "Phacomatosis pigmentokeratotica" RELATED [GARD:0004311]
xref: GARD:4311 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:2874/attributed", source="Orphanet:2874/ntbt", source="Orphanet:2874"}
xref: MEDGEN:419860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537893 {source="Orphanet:2874", source="MONDO:equivalentTo", source="Orphanet:2874/e"}
xref: Orphanet:2874 {source="MONDO:equivalentTo"}
xref: SCTID:723455009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419860"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005073 {source="Orphanet:2874"} ! melanocytic nevus
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021147 ! disorder of development or morphogenesis
is_a: MONDO:0042983 {source="https://orcid.org/0000-0002-6601-2165"} ! neurocutaneous syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017318
name: phakomatosis pigmentovascularis
subset: gard_rare {source="GARD:4312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2875"}
subset: orphanet_rare {source="Orphanet:2875"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "association of cutaneous vascular malformations and different pigmentary disorders" RELATED [GARD:0004312]
synonym: "Phacomatosis pigmentovascularis" RELATED [GARD:0004312]
synonym: "phakomatosis pigmentovascularis" EXACT []
synonym: "port-wine stain with oculocutaneous melanosis" EXACT []
synonym: "PPv" RELATED [GARD:0004312]
xref: GARD:4312 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:2875", source="Orphanet:2875/attributed", source="Orphanet:2875/ntbt"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537894 {source="MONDO:equivalentTo"}
xref: Orphanet:2875 {source="MONDO:equivalentTo"}
xref: SCTID:403545005 {source="MONDO:equivalentTo"}
xref: UMLS:C1274879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220888"}
is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder
is_a: MONDO:0019289 {source="Orphanet:2875"} ! hyperpigmentation of the skin
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021147 ! disorder of development or morphogenesis
is_a: MONDO:0042983 {source="https://orcid.org/0000-0002-6601-2165"} ! neurocutaneous syndrome
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0017319
name: hereditary elliptocytosis
def: "Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic." [Orphanet:288]
subset: gard_rare {source="GARD:6621", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1935", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:288"}
subset: orphanet_rare {source="Orphanet:288"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital elliptocytosis" EXACT [DOID:2373]
synonym: "Hashimoto Encephalopathy" EXACT [NORD:1935]
synonym: "HE" EXACT [Orphanet:288]
synonym: "hereditary ovalocytosis" EXACT [NCIT:C35882]
synonym: "ovalocytosis" EXACT [DOID:2373]
xref: DOID:2373 {source="MONDO:equivalentTo"}
xref: GARD:6621 {source="MONDO:GARD"}
xref: ICD10CM:D58.1 {source="Orphanet:288/specific", source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="Orphanet:288"}
xref: icd11.foundation:679955609 {source="MONDO:equivalentTo", source="Orphanet:288"}
xref: ICD9:282.1 {source="DOID:2373"}
xref: MedDRA:10014490 {source="Orphanet:288/e", source="Orphanet:288"}
xref: MEDGEN:41747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004612 {source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="Orphanet:288"}
xref: NANDO:2200630 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35882 {source="DOID:2373", source="MONDO:equivalentTo"}
xref: NCIT:C36293 {source="DOID:2373", source="MONDO:otherHierarchy"}
xref: NORD:1935 {source="MONDO:NORD"}
xref: Orphanet:288 {source="DOID:2373", source="MONDO:equivalentTo"}
xref: SCTID:154801000 {source="DOID:2373"}
xref: SCTID:178935009 {source="DOID:2373", source="MONDO:equivalentTo"}
xref: SCTID:191169008 {source="DOID:2373"}
xref: SCTID:267558001 {source="DOID:2373"}
xref: SCTID:58864003 {source="DOID:2373"}
xref: UMLS:C0013902 {source="MONDO:equivalentTo", source="MEDGEN:41747", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="Orphanet:288"} ! hemolytic anemia

[Term]
id: MONDO:0017320
name: phosphoenolpyruvate carboxykinase deficiency
def: "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder." [Orphanet:2880]
subset: gard_rare {source="GARD:16613", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2880"}
subset: orphanet_rare {source="Orphanet:2880"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PEPCK deficiency" EXACT [Orphanet:2880]
synonym: "phosphoenolpyruvate carboxykinase (GTP) deficiency" EXACT [NCIT:C99015]
xref: GARD:16613 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:2880", source="Orphanet:2880/ntbt", source="Orphanet:2880/inclusion"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536654 {source="Orphanet:2880", source="MONDO:equivalentTo", source="Orphanet:2880/e"}
xref: NANDO:2200536 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99015 {source="MONDO:equivalentTo"}
xref: Orphanet:2880 {source="MONDO:equivalentTo"}
xref: SCTID:5335002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268194 {source="MEDGEN:120618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019214 {source="MESH:C536654", source="NCIT:C99015", source="Orphanet:2880/inferred"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0019225 {source="Orphanet:2880", source="PMID:33340416"} ! disorder of gluconeogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017321
name: pili torti-onychodysplasia syndrome
def: "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive." [Orphanet:2890]
subset: gard_rare {source="GARD:4364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2890"}
subset: ordo_malformation_syndrome {source="Orphanet:2890"}
subset: orphanet_rare {source="Orphanet:2890"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:4364 {source="MONDO:GARD"}
xref: MEDGEN:419090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537399 {source="Orphanet:2890/e", source="Orphanet:2890"}
xref: Orphanet:2890 {source="MONDO:equivalentTo"}
xref: UMLS:C2931483 {source="MEDGEN:419090", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:2890"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0017322
name: disorders of vitamin D metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21132", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289098"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21132 {source="MONDO:GARD"}
xref: MEDGEN:1842308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289098 {source="MONDO:equivalentTo"}
xref: UMLS:C5681017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842308"}
is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted", source="MONDO:0019061-obsoleted"} ! endocrine system disorder
is_a: MONDO:0005528 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn vitamin metabolic disorder
relationship: disease_has_feature HP:0004348 {source="Orphanet:289098"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:289098", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization

[Term]
id: MONDO:0017323
name: hypocalcemic rickets
def: "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR)." [Orphanet:289103]
subset: disease_grouping
subset: gard_rare {source="GARD:21133", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Calciopenic rickets" EXACT [NCIT:C131421]
synonym: "calcium deficiency rickets" EXACT [NCIT:C131421]
xref: GARD:21133 {source="MONDO:GARD"}
xref: MEDGEN:927864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131421 {source="MONDO:equivalentTo"}
xref: Orphanet:289103 {source="MONDO:equivalentTo"}
xref: SCTID:722947004 {source="MONDO:equivalentTo"}
xref: UMLS:C4302195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927864"}
is_a: MONDO:0005520 {source="NCIT:C131421", source="https://orcid.org/0000-0002-6601-2165"} ! rickets
is_a: MONDO:0017322 {source="Orphanet:289103"} ! disorders of vitamin D metabolism
relationship: disease_has_feature HP:0002901 ! Hypocalcemia

[Term]
id: MONDO:0017324
name: autosomal recessive hypophosphatemic rickets
def: "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." [Orphanet:289176]
subset: gard_rare {source="GARD:17320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289176"}
subset: orphanet_rare {source="Orphanet:289176"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARHR" EXACT ABBREVIATION [Orphanet:289176]
synonym: "autosomal recessive hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern]
synonym: "hereditary hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: DOID:0050949 {source="MONDO:equivalentTo"}
xref: GARD:17320 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:289176/attributed", source="Orphanet:289176/ntbt", source="Orphanet:289176"}
xref: MEDGEN:137975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289176 {source="MONDO:equivalentTo"}
xref: SCTID:90505000 {source="MONDO:equivalentTo"}
xref: UMLS:C0342643 {source="MEDGEN:137975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000044 {source="MONDO:Redundant", source="Orphanet:289176"} ! hereditary hypophosphatemic rickets
is_a: MONDO:0005520 {source="DOID:0050949", source="MONDO:Redundant"} ! rickets
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic HP:0000007 {source="Orphanet:289176"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0017325
name: early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
def: "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI." [Orphanet:289266]
subset: gard_rare {source="GARD:21134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289266"}
subset: orphanet_rare {source="Orphanet:289266"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" EXACT CLINGEN_LABEL []
xref: GARD:21134 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:289266", source="Orphanet:289266/attributed", source="Orphanet:289266/ntbt"}
xref: MEDGEN:1663334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613971 {source="Orphanet:289266", source="MONDO:equivalentObsolete", source="Orphanet:289266/e"}
xref: Orphanet:289266 {source="MONDO:equivalentTo"}
xref: UMLS:C4749281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1663334"}
is_a: MONDO:0020072 {source="Orphanet:289266"} ! childhood-onset epilepsy syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:289266", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017326
name: infective dermatitis associated with HTLV-1
def: "A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis." [Orphanet:289347]
subset: gard_rare {source="GARD:21135", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289347"}
subset: orphanet_rare {source="Orphanet:289347"}
subset: rare
synonym: "IDH" EXACT ABBREVIATION [Orphanet:289347]
synonym: "IDH Gene family" EXACT [NCIT:C129260]
synonym: "infective dermatitis associated with human T-lymphotropic virus type 1" EXACT [Orphanet:289347]
synonym: "infective dermatitis associated with human T-lymphotropic virus type I" EXACT [Orphanet:289347]
synonym: "isocitrate dehydrogenase Gene family" EXACT [NCIT:C129260]
xref: GARD:21135 {source="MONDO:GARD"}
xref: ICD10CM:L30.3 {source="Orphanet:289347/ntbt", source="Orphanet:289347"}
xref: MEDGEN:895843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129260 {source="MONDO:equivalentTo"}
xref: Orphanet:289347 {source="MONDO:equivalentTo"}
xref: UMLS:C4274291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895843"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
is_a: MONDO:0005108 {source="Orphanet:289347"} ! viral infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare

[Term]
id: MONDO:0017327
name: primary non-gestational choriocarcinoma of ovary
def: "Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism." [Orphanet:289356]
subset: gard_rare {source="GARD:21136", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289356"}
subset: orphanet_rare {source="Orphanet:289356"}
subset: rare
synonym: "NGCO" EXACT ABBREVIATION [Orphanet:289356]
synonym: "primary non-gestational ovarian choriocarcinoma" EXACT [Orphanet:289356]
xref: GARD:21136 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:289356", source="Orphanet:289356/ntbt"}
xref: MEDGEN:906353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289356 {source="MONDO:equivalentTo"}
xref: SCTID:716588005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274424 {source="MEDGEN:906353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018171 {source="Orphanet:289356"} ! malignant germ cell tumor of ovary

[Term]
id: MONDO:0017328
name: non-central nervous system-localized embryonal carcinoma
subset: gard_rare {source="GARD:21137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:289362"}
subset: rare
synonym: "non-CNS-localized embryonal carcinoma" EXACT [Orphanet:289362]
xref: GARD:21137 {source="MONDO:GARD"}
xref: ICD10CM:C22.7 {source="Orphanet:289362/ntbt", source="Orphanet:289362"}
xref: MEDGEN:1842755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289362 {source="MONDO:equivalentTo"}
xref: UMLS:C5679946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842755"}
is_a: MONDO:0005440 {source="Orphanet:289362"} ! embryonal carcinoma

[Term]
id: MONDO:0017329
name: familial vesicoureteral reflux
def: "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible." [Orphanet:289365]
subset: gard_rare {source="GARD:17323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289365"}
subset: ordo_malformation_syndrome {source="Orphanet:289365"}
subset: orphanet_rare {source="Orphanet:289365"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial VUR" EXACT [Orphanet:289365]
synonym: "hereditary vesicoureteral reflux (disease)" EXACT [MONDO:patterns/hereditary]
xref: GARD:17323 {source="MONDO:GARD"}
xref: ICD10CM:N13.7 {source="Orphanet:289365", source="Orphanet:289365/attributed", source="Orphanet:289365/ntbt"}
xref: MEDGEN:1637583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:193000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:289365 {source="MONDO:equivalentTo"}
xref: SCTID:763716008 {source="MONDO:equivalentTo"}
xref: UMLS:C4706552 {source="MEDGEN:1637583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006007 {source="OMIMPS:193000", source="https://orcid.org/0000-0001-5208-3432"} ! vesicoureteral reflux
intersection_of: MONDO:0006007 ! vesicoureteral reflux
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:193000"} ! inherited

[Term]
id: MONDO:0017330
name: malignancy diagnosed during pregnancy
subset: gard_rare {source="GARD:21138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:289385"}
subset: ordo_disorder {source="Orphanet:289385"}
subset: orphanet_rare {source="Orphanet:289385"}
subset: rare
synonym: "cancer diagnosed during pregnancy" EXACT [Orphanet:289385]
xref: GARD:21138 {source="MONDO:GARD"}
xref: MEDGEN:1830090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289385 {source="MONDO:equivalentTo"}
xref: UMLS:C5679948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830090"}
is_a: MONDO:0024575 {source="Orphanet:289385"} ! pregnancy disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare

[Term]
id: MONDO:0017331
name: Pilotto syndrome
def: "Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975." [Orphanet:2894]
subset: ordo_malformation_syndrome {source="Orphanet:2894"}
synonym: "cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability" RELATED [GARD:0004368]
synonym: "cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation" RELATED DEPRECATED [GARD:0004368]
xref: MEDGEN:419091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537400 {source="Orphanet:2894", source="MONDO:equivalentTo", source="Orphanet:2894/e"}
xref: Orphanet:2894 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2931484 {source="MEDGEN:419091", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome" xsd:anyURI {source="GARD:0004368"}

[Term]
id: MONDO:0017332
name: pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
subset: gard_rare {source="GARD:21139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289478"}
subset: orphanet_rare {source="Orphanet:289478"}
subset: rare
synonym: "pash syndrome" EXACT [Orphanet:289478]
xref: GARD:21139 {source="MONDO:GARD"}
xref: MEDGEN:1681766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289478 {source="MONDO:equivalentTo"}
xref: UMLS:C5191642 {source="MEDGEN:1681766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019751 {source="Orphanet:289478/inferred", source="PMID:23827249"} ! autoinflammatory syndrome

[Term]
id: MONDO:0017333
name: obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: leukodystrophy
subset: ordo_disorder {source="Orphanet:289494"}
synonym: "Pol III-related leukodystrophy" RELATED [Orphanet:289494]
xref: GARD:21140 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:289494 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019046

[Term]
id: MONDO:0017334
name: 12q15q21.1 microdeletion syndrome
def: "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated." [Orphanet:289513]
subset: gard_rare {source="GARD:21141", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289513"}
subset: ordo_malformation_syndrome {source="Orphanet:289513"}
subset: orphanet_rare {source="Orphanet:289513"}
subset: rare
synonym: "Del(12)(q15)(q21.1)" EXACT [Orphanet:289513]
synonym: "deletion 12q15q21.1" EXACT [Orphanet:289513]
synonym: "monosomy 12q15q21.1" EXACT [Orphanet:289513]
xref: GARD:21141 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:289513", source="Orphanet:289513/attributed", source="Orphanet:289513/ntbt"}
xref: MEDGEN:1383455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289513 {source="MONDO:equivalentTo"}
xref: SCTID:734030009 {source="MONDO:equivalentTo"}
xref: UMLS:C4518344 {source="MEDGEN:1383455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016877 {source="Orphanet:289513"} ! partial deletion of the long arm of chromosome 12
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr12q15-q21.1 ! 12q15-q21.1 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017335
name: microtriplication 11q24.1
def: "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." [Orphanet:289522]
subset: gard_rare {source="GARD:21142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289522"}
subset: ordo_malformation_syndrome {source="Orphanet:289522"}
subset: orphanet_rare {source="Orphanet:289522"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tetrasomy 11q24.1" EXACT [Orphanet:289522]
xref: GARD:21142 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:289522/attributed", source="Orphanet:289522/ntbt", source="Orphanet:289522"}
xref: MEDGEN:1656562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289522 {source="MONDO:equivalentTo"}
xref: UMLS:C4749373 {source="MEDGEN:1656562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:289522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0022173 {source="Orphanet:289522"} ! chromosome 11q trisomy
relationship: disease_arises_from_structure CHR:9606-chr11q24.1 {source="https://orcid.org/0000-0002-4142-7153"} ! 11q24.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017336
name: obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
synonym: "fatal infantile HCM due to mitochondrial complex I deficiency" EXACT [Orphanet:289527]
synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency" EXACT [Orphanet:289527]
synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency" EXACT [Orphanet:289527]
xref: Orphanet:289527 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6391" xsd:anyURI
is_obsolete: true
consider: MONDO:0100133

[Term]
id: MONDO:0017337
name: inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
def: "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands." [Orphanet:289548]
subset: gard_rare {source="GARD:21143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289548"}
subset: orphanet_rare {source="Orphanet:289548"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21143 {source="MONDO:GARD"}
xref: ICD10CM:E27.1 {source="Orphanet:289548", source="Orphanet:289548/attributed", source="Orphanet:289548/ntbt"}
xref: MEDGEN:1643960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289548 {source="MONDO:equivalentTo"}
xref: SCTID:764960005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643960"}
is_a: MONDO:0005495 {source="Orphanet:289548", source="Orphanet:289548/inferred"} ! adrenal gland disorder
is_a: MONDO:0015129 {source="Orphanet:289548", source="Orphanet:289548/inferred"} ! chronic primary adrenal insufficiency
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare

[Term]
id: MONDO:0017338
name: fatal multiple mitochondrial dysfunctions syndrome
def: "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual." [Orphanet:289573]
subset: disease_grouping
subset: gard_rare {source="GARD:12632", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fatal multiple mitochondrial dysfunction syndrome" RELATED [GARD:0012632]
synonym: "MMDS" RELATED ABBREVIATION [MONDO:Lexical]
synonym: "multiple mitochondrial dysfunctions syndrome" EXACT [Orphanet:289573]
xref: DOID:0070330 {source="MONDO:equivalentTo"}
xref: GARD:12632 {source="MONDO:GARD"}
xref: MEDGEN:502474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565304 {source="MONDO:equivalentTo"}
xref: OMIMPS:605711 {source="MONDO:equivalentTo"}
xref: Orphanet:289573 {source="MONDO:equivalentTo"}
xref: SCTID:720827002 {source="MONDO:equivalentTo"}
xref: UMLS:C3502075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:502474"}
is_a: MONDO:0018424 {source="Orphanet:289573"} ! inherited lipoic acid biosynthesis defect
is_a: MONDO:0044970 ! mitochondrial disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:605711"} ! inherited

[Term]
id: MONDO:0017339
name: exfoliative ichthyosis
def: "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment." [Orphanet:289586]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289586"}
subset: orphanet_rare {source="Orphanet:289586"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive exfoliative ichthyosis" EXACT [Orphanet:289586]
synonym: "exfoliative ichthyosis" EXACT CLINGEN_LABEL []
synonym: "ichthyosis exfoliativa" EXACT [Orphanet:289586]
xref: GARD:17329 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:289586/attributed", source="Orphanet:289586/ntbt", source="Orphanet:289586"}
xref: MEDGEN:325027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289586 {source="MONDO:equivalentTo"}
xref: UMLS:C1838440 {source="MEDGEN:325027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017265 {source="Orphanet:289586"} ! autosomal recessive congenital ichthyosis

[Term]
id: MONDO:0017340
name: juvenile nasopharyngeal angiofibroma
def: "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures." [Orphanet:289596]
subset: gard_rare {source="GARD:21144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289596"}
subset: orphanet_rare {source="Orphanet:289596"}
subset: rare
synonym: "JNA" EXACT ABBREVIATION [Orphanet:289596]
synonym: "juvenile nasopharyngeal angiofibroma" EXACT [MONDO:ambiguous]
synonym: "juvenile nasopharyngeal angiofibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "nasopharyngeal angiofibroma" EXACT [NCIT:C27479]
synonym: "nasopharyngeal juvenile angiofibroma" EXACT [NCIT:C27479]
xref: GARD:21144 {source="MONDO:GARD"}
xref: HP:0030429 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D10.6 {source="Orphanet:289596", source="MONDO:relatedTo", source="Orphanet:289596/ntbt"}
xref: MEDGEN:237137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27479 {source="MONDO:equivalentTo"}
xref: Orphanet:289596 {source="MONDO:equivalentTo"}
xref: SCTID:716590006 {source="MONDO:equivalentTo"}
xref: UMLS:C1367536 {source="MEDGEN:237137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
property_value: IAO:0000589 "juvenile nasopharyngeal angiofibroma (disease)" xsd:string

[Term]
id: MONDO:0017341
name: virus associated tumor
subset: disease_grouping
subset: gard_rare {source="GARD:21145", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289635"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21145 {source="MONDO:GARD"}
xref: MEDGEN:1842723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289635 {source="MONDO:equivalentTo"}
xref: UMLS:C5681008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842723"}
is_a: MONDO:0005070 {source="Orphanet:289635"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_feature MONDO:0005108 ! viral infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020031"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI

[Term]
id: MONDO:0017342
name: Epstein-Barr virus-related tumor
subset: disease_grouping
subset: gard_rare {source="GARD:21146", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289638"}
subset: rare
synonym: "EBV-related tumor" EXACT [Orphanet:289638]
synonym: "EBV-related tumour" EXACT OMO:0003005 []
xref: GARD:21146 {source="MONDO:GARD"}
xref: MEDGEN:1842315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289638 {source="MONDO:equivalentTo"}
xref: UMLS:C5679942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842315"}
is_a: MONDO:0017341 {source="Orphanet:289638"} ! virus associated tumor

[Term]
id: MONDO:0017343
name: Epstein-Barr virus-associated malignant lymphoproliferative disorder
comment: the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV
subset: disease_grouping
subset: gard_rare {source="GARD:21147", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289644"}
subset: rare
synonym: "EBV-associated lymphoproliferative disorder" EXACT [Orphanet:289644]
xref: GARD:21147 {source="MONDO:GARD"}
xref: MedDRA:10068349 {source="Orphanet:289644", source="Orphanet:289644/e"}
xref: MEDGEN:797800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289644 {source="MONDO:equivalentTo"}
xref: UMLS:C2363744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:797800"}
is_a: MONDO:0017342 {source="Orphanet:289644"} ! Epstein-Barr virus-related tumor

[Term]
id: MONDO:0017344
name: Epstein-Barr virus-associated carcinoma
subset: disease_grouping
subset: gard_rare {source="GARD:21148", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289651"}
subset: rare
synonym: "EBV-associated carcinoma" EXACT [Orphanet:289651]
xref: GARD:21148 {source="MONDO:GARD"}
xref: MEDGEN:1842328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289651 {source="MONDO:equivalentTo"}
xref: UMLS:C5679940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842328"}
is_a: MONDO:0017342 {source="Orphanet:289651"} ! Epstein-Barr virus-related tumor

[Term]
id: MONDO:0017345
name: Epstein-Barr virus-associated mesenchymal tumor
subset: disease_grouping
subset: gard_rare {source="GARD:21149", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289656"}
subset: rare
synonym: "EBV-associated mesenchymal tumor" EXACT [Orphanet:289656]
synonym: "EBV-associated mesenchymal tumour" EXACT OMO:0003005 []
xref: GARD:21149 {source="MONDO:GARD"}
xref: MEDGEN:1843096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289656 {source="MONDO:equivalentTo"}
xref: UMLS:C5679941 {source="MEDGEN:1843096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017342 {source="Orphanet:289656"} ! Epstein-Barr virus-related tumor

[Term]
id: MONDO:0017346
name: Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
def: "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." [Orphanet:289661]
subset: gard_rare {source="GARD:21150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289661"}
subset: orphanet_rare {source="Orphanet:289661"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "age-related EBV Positive B-cell lymphoproliferative disorder" EXACT [NCIT:C80281]
synonym: "EBV Positive diffuse large B-cell lymphoma of the elderly" EXACT [NCIT:C80281]
synonym: "EBV-Positive diffuse large B-cell lymphoma, NOS" EXACT [NCIT:C80281]
synonym: "EBV-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [NCIT:C80281]
synonym: "EBV-positive DLBCL of the elderly" EXACT [Orphanet:289661]
synonym: "EBV-positive DLBCL, NOS" RELATED EXCLUDE [NCIT:C80281]
synonym: "Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly" EXACT [NCIT:C80281]
synonym: "Epstein-Barr Virus Positive DLBCL, NOS" RELATED EXCLUDE [NCIT:C80281]
synonym: "Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [NCIT:C80281]
synonym: "Senile EBV-associated B-cell lymphoproliferative disorder" EXACT [NCIT:C80281]
xref: GARD:21150 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:289661", source="Orphanet:289661/ntbt"}
xref: icd11.foundation:407807101 {source="Orphanet:289661", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9680/3 {source="NCIT:C80281"}
xref: MEDGEN:397690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80281 {source="MONDO:equivalentTo"}
xref: Orphanet:289661 {source="MONDO:equivalentTo"}
xref: SCTID:716788007 {source="MONDO:equivalentTo"}
xref: UMLS:C2700007 {source="MEDGEN:397690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017343 {source="Orphanet:289661"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0018905 {source="NCIT:C80281", source="Orphanet:289661"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0017347
name: plasmablastic lymphoma
def: "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone." [NCIT:P378]
subset: gard_rare {source="GARD:12125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289666"}
subset: orphanet_rare {source="Orphanet:289666"}
subset: rare
synonym: "PBL" EXACT ABBREVIATION [Orphanet:289666]
synonym: "Plasmablastic lymphoma" EXACT [NCIT:C7224]
synonym: "PLBL" RELATED ABBREVIATION [ONCOTREE:PLBL]
xref: DOID:0080779 {source="MONDO:equivalentTo"}
xref: GARD:12125 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:289666/ntbt", source="Orphanet:289666"}
xref: icd11.foundation:803046659 {source="Orphanet:289666", source="MONDO:equivalentTo"}
xref: ICDO:9684/3 {source="NCIT:C7224"}
xref: ICDO:9735/3 {source="NCIT:C7224"}
xref: MedDRA:10065039 {source="Orphanet:289666", source="Orphanet:289666/e"}
xref: MEDGEN:483338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000069293 {source="MONDO:equivalentTo"}
xref: NCIT:C7224 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PLBL {source="MONDO:equivalentTo"}
xref: Orphanet:289666 {source="MONDO:equivalentTo"}
xref: SCTID:724648008 {source="MONDO:equivalentTo"}
xref: UMLS:C3472614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483338"}
is_a: MONDO:0017343 {source="Orphanet:289666"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0017595 {source="MONDO:Redundant", source="Orphanet:289666"} ! aggressive B-cell non-Hodgkin lymphoma
is_a: MONDO:0018905 {source="MESH:D000069293", source="NCIT:C7224"} ! diffuse large B-cell lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma" xsd:anyURI {source="GARD:0012125"}

[Term]
id: MONDO:0017348
name: lymphoepithelial-like carcinoma
def: "Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ." [Orphanet:289682]
subset: gard_rare {source="GARD:21151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289682"}
subset: orphanet_rare {source="Orphanet:289682"}
subset: rare
xref: GARD:21151 {source="MONDO:GARD"}
xref: Orphanet:289682 {source="MONDO:equivalentTo"}
is_a: MONDO:0017344 {source="Orphanet:289682"} ! Epstein-Barr virus-associated carcinoma

[Term]
id: MONDO:0017349
name: myopericytoma
def: "A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course." [NCIT:C50401]
subset: gard_rare {source="GARD:21152", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289685"}
subset: orphanet_rare {source="Orphanet:289685"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemangiopericytoma" RELATED [NCIT:C50401]
synonym: "MPC" RELATED ABBREVIATION [ONCOTREE:MPC]
synonym: "solitary myofibroma" EXACT [NCIT:C50401]
xref: GARD:21152 {source="MONDO:GARD"}
xref: ICDO:8713/1 {source="NCIT:C50401"}
xref: MEDGEN:224912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000077777 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C50401 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MPC {source="MONDO:equivalentTo"}
xref: Orphanet:289685 {source="MONDO:equivalentTo"}
xref: UMLS:C1302808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224912"}
is_a: MONDO:0002604 {source="NCIT:C50401"} ! pericytic neoplasm
is_a: MONDO:0017345 {source="Orphanet:289685"} ! Epstein-Barr virus-associated mesenchymal tumor

[Term]
id: MONDO:0017350
name: inborn disorder of tryptophan metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:21154", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289829"}
subset: rare
synonym: "disorder of tryptophan metabolism" RELATED [Orphanet:289829]
synonym: "inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn tryptophan metabolic process disorder" EXACT []
synonym: "rare inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21154 {source="MONDO:GARD"}
xref: ICD10CM:E70.8 {source="Orphanet:289829/ntbt", source="Orphanet:289829/inclusion", source="Orphanet:289829"}
xref: icd11.foundation:282654317 {source="MONDO:equivalentTo", source="Orphanet:289829", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:22506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289829 {source="MONDO:equivalentTo"}
xref: SCTID:5181007 {source="MONDO:equivalentTo"}
xref: UMLS:C0041254 {source="MEDGEN:22506", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019189 {source="Orphanet:289829"} ! inborn disorder of amino acid and other organic acid metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006568 ! tryptophan metabolic process

[Term]
id: MONDO:0017351
name: inborn disorder of lysine and hydroxylysine metabolism
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:21155", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289832"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of lysine and hydroxylysine metabolism" RELATED [Orphanet:289832]
xref: GARD:21155 {source="MONDO:GARD"}
xref: ICD10CM:E72.3 {source="MONDO:equivalentTo", source="Orphanet:289832", source="Orphanet:289832/specific", source="Orphanet:289832/e"}
xref: icd11.foundation:367868681 {source="MONDO:equivalentTo", source="Orphanet:289832", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:541359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289832 {source="MONDO:equivalentTo"}
xref: SCTID:237929000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541359"}
is_a: MONDO:0019189 {source="Orphanet:289832"} ! inborn disorder of amino acid and other organic acid metabolism
is_a: MONDO:0037938 {source="https://orcid.org/0000-0002-6601-2165"} ! inborn disorder of aspartate family metabolism

[Term]
id: MONDO:0017352
name: disorder of glutamine metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21156", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289841"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21156 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:289841/ntbt", source="Orphanet:289841", source="Orphanet:289841/index"}
xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289841 {source="MONDO:equivalentTo"}
xref: SCTID:190724004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575171"}
is_a: MONDO:0019189 {source="MONDO:Redundant", source="Orphanet:289841"} ! inborn disorder of amino acid and other organic acid metabolism
intersection_of: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism
intersection_of: disease_disrupts GO:0006541 ! glutamine metabolic process

[Term]
id: MONDO:0017353
name: neonatal glycine encephalopathy
def: "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." [Orphanet:289857]
subset: gard_rare {source="GARD:17332", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:289857"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic glycine encephalopathy" EXACT [Orphanet:289857]
synonym: "neonatal NKH" EXACT [Orphanet:289857]
synonym: "neonatal non-ketotic hyperglycinemia" EXACT [Orphanet:289857]
xref: GARD:17332 {source="MONDO:GARD"}
xref: ICD10CM:E72.5 {source="Orphanet:289857", source="Orphanet:289857/attributed", source="Orphanet:289857/ntbt"}
xref: MEDGEN:1785446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200985 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:289857 {source="MONDO:equivalentTo"}
xref: UMLS:C5548200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785446"}
is_a: MONDO:0011612 {source="Orphanet:289857"} ! glycine encephalopathy

[Term]
id: MONDO:0017354
name: infantile glycine encephalopathy
def: "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures." [Orphanet:289860]
subset: gard_rare {source="GARD:17333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:289860"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycine encephalopathy of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "infantile NKH" EXACT [Orphanet:289860]
synonym: "infantile non-ketotic hyperglycinemia" EXACT [Orphanet:289860]
synonym: "infantile onset glycine encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
xref: GARD:17333 {source="MONDO:GARD"}
xref: ICD10CM:E72.5 {source="Orphanet:289860", source="Orphanet:289860/attributed", source="Orphanet:289860/ntbt"}
xref: MEDGEN:1781124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200986 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:289860 {source="MONDO:equivalentTo"}
xref: UMLS:C5548209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781124"}
is_a: MONDO:0011612 {source="MONDO:Redundant", source="Orphanet:289860"} ! glycine encephalopathy
intersection_of: MONDO:0011612 ! glycine encephalopathy
intersection_of: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0017355
name: inborn disorder of proline metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of proline metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:21157", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289866"}
subset: rare
synonym: "disorder of proline metabolism" EXACT [Orphanet:289866]
synonym: "inborn error of proline metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn proline metabolic process disorder" EXACT []
synonym: "rare inborn error of proline metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21157 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:289866", source="Orphanet:289866/attributed", source="Orphanet:289866/ntbt"}
xref: icd11.foundation:1707028291 {source="MONDO:equivalentTo", source="Orphanet:289866", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289866 {source="MONDO:equivalentTo"}
xref: UMLS:C5681004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842611"}
is_a: MONDO:0019230 {source="Orphanet:289866"} ! inborn disorder of ornithine or proline metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006560 ! proline metabolic process

[Term]
id: MONDO:0017356
name: inborn disorder of ornithine metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:21158", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289869"}
subset: rare
synonym: "disorder of ornithine metabolism" EXACT [Orphanet:289869]
synonym: "inborn error of ornithine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn ornithine metabolic process disorder" EXACT []
synonym: "rare inborn error of ornithine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21158 {source="MONDO:GARD"}
xref: ICD10CM:E72.4 {source="Orphanet:289869/e", source="Orphanet:289869/specific", source="Orphanet:289869"}
xref: icd11.foundation:1711515805 {source="MONDO:equivalentTo", source="Orphanet:289869", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:575181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289869 {source="MONDO:equivalentTo"}
xref: SCTID:237928008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575181"}
is_a: MONDO:0019230 {source="Orphanet:289869"} ! inborn disorder of ornithine or proline metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006591 ! ornithine metabolic process

[Term]
id: MONDO:0017357
name: transient hyperammonemia of the newborn
subset: gard_rare {source="GARD:21159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:289877"}
subset: ordo_disorder {source="Orphanet:289877"}
subset: orphanet_rare {source="Orphanet:289877"}
subset: rare
xref: GARD:21159 {source="MONDO:GARD"}
xref: ICD10CM:P74.8 {source="Orphanet:289877", source="Orphanet:289877/ntbt"}
xref: MEDGEN:541358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289877 {source="MONDO:equivalentTo"}
xref: UMLS:C0268549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541358"}
is_a: MONDO:0005087 ! respiratory system disorder
relationship: has_characteristic HP:0025153 ! Transient
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare

[Term]
id: MONDO:0017358
name: obsolete organic aciduria
is_obsolete: true
replaced_by: MONDO:0000688

[Term]
id: MONDO:0017359
name: 3-methylglutaconic aciduria
def: "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." [NCIT:C98678]
subset: disease_grouping
subset: gard_rare {source="GARD:12966", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:289902"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0060336 {source="MONDO:equivalentTo"}
xref: GARD:12966 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="DOID:0060336", source="Orphanet:289902/attributed", source="Orphanet:289902/ntbt", source="Orphanet:289902"}
xref: ICD10CM:E71.111 {source="DOID:0060336", source="MONDO:equivalentTo"}
xref: MEDGEN:777186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579867 {source="DOID:0060336", source="MONDO:equivalentTo"}
xref: NANDO:1200989 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200496 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98678 {source="MONDO:equivalentTo"}
xref: OMIMPS:250950 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:289902 {source="DOID:0060336", source="MONDO:equivalentTo"}
xref: SCTID:237950009 {source="MONDO:equivalentTo"}
xref: UMLS:C3696376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777186"}
is_a: MONDO:0000688 {source="DOID:0060336", source="MONDO:Redundant", source="NCIT:C98678", source="Orphanet:289902/inferred"} ! inborn organic aciduria
is_a: MONDO:0019215 {source="Orphanet:289902"} ! classic organic aciduria
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:250950"} ! inherited

[Term]
id: MONDO:0017360
name: vitamin B12-unresponsive methylmalonic acidemia type mut0
def: "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." [Orphanet:289916]
subset: gard_rare {source="GARD:17335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:289916"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:289916]
synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut0" EXACT [Orphanet:289916]
xref: GARD:17335 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:289916/attributed", source="Orphanet:289916/ntbt", source="Orphanet:289916"}
xref: MEDGEN:575191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:289916 {source="MONDO:equivalentTo"}
xref: SCTID:237945003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575191"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0009612 {source="Orphanet:289916"} ! methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017361
name: congenital rubella syndrome
def: "An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects." [Orphanet:290]
subset: gard_rare {source="GARD:4744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1681"}
subset: ordo_disorder {source="Orphanet:290"}
subset: orphanet_rare {source="Orphanet:290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital rubella" EXACT [MONDO:patterns/congenital]
synonym: "congenital rubella syndrome" EXACT [NCIT:C34992]
synonym: "CRS" EXACT ABBREVIATION [Orphanet:290]
synonym: "fetal rubella syndrome" EXACT [Orphanet:290]
synonym: "foetal rubella syndrome" EXACT OMO:0003005 []
synonym: "mother-to-child transmission of rubella syndrome" EXACT [Orphanet:290]
synonym: "rubella congenital" EXACT [GARD:0004744]
synonym: "Rubella, Congenital" EXACT [NORD:1681]
xref: DOID:9228 {source="EFO:0007218", source="MONDO:obsolete"}
xref: EFO:0007218 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4744 {source="MONDO:GARD"}
xref: ICD10CM:P35.0 {source="Orphanet:290", source="MONDO:equivalentTo", source="Orphanet:290/e"}
xref: icd11.foundation:1059053724 {source="Orphanet:290", source="MONDO:equivalentTo"}
xref: ICD9:771.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10010618 {source="Orphanet:290", source="Orphanet:290/e"}
xref: MEDGEN:19841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012410 {source="EFO:0007218", source="Orphanet:290", source="MONDO:equivalentTo", source="Orphanet:290/e"}
xref: NANDO:2200890 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34992 {source="MONDO:equivalentTo"}
xref: NORD:1681 {source="MONDO:NORD"}
xref: Orphanet:290 {source="MONDO:equivalentTo"}
xref: SCTID:1857005 {source="MONDO:equivalentTo"}
xref: UMLS:C0035921 {source="MONDO:equivalentTo", source="MEDGEN:19841", source="MONDO:MEDGEN"}
is_a: MONDO:0004656 {source="NCIT:C34992"} ! rubella
is_a: MONDO:0005108 {source="EFO:0007218", source="MONDO:Redundant", source="NCIT:C34992/inferred"} ! viral infectious disease
is_a: MONDO:0016511 {source="Orphanet:290"} ! infectious embryofetopathy
intersection_of: MONDO:0004656 ! rubella
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017362
name: neuralgic amyotrophy
def: "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form." [Orphanet:2901]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4228", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1560"}
subset: ordo_disorder {source="Orphanet:2901"}
subset: orphanet_rare {source="Orphanet:2901"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute brachial plexus neuritis" EXACT [Orphanet:2901]
synonym: "brachial plexus neuritis" BROAD [Orphanet:2901]
synonym: "immune brachial plexus neuropathy" EXACT [Orphanet:2901]
synonym: "mononeuritis multiplex with brachial predilection" EXACT [Orphanet:2901]
synonym: "neuralgic shoulder amyotrophy" EXACT [Orphanet:2901]
synonym: "Parsonage Turner Syndrome" EXACT [NORD:1560]
xref: GARD:4228 {source="MONDO:GARD"}
xref: ICD10CM:G54.5 {source="Orphanet:2901/ntbt", source="Orphanet:2901"}
xref: icd11.foundation:302246011 {source="MONDO:equivalentTo", source="Orphanet:2901", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10063020 {source="Orphanet:2901/e", source="Orphanet:2901"}
xref: MEDGEN:307145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1560 {source="MONDO:NORD"}
xref: Orphanet:2901 {source="MONDO:equivalentTo"}
xref: UMLS:C1510479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307145"}
is_a: MONDO:0015923 {source="Orphanet:2901"} ! acquired peripheral neuropathy

[Term]
id: MONDO:0017363
name: idiopathic chronic eosinophilic pneumonia
def: "A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss)." [https://orcid.org/0000-0001-5208-3432, Orphanet:2902]
subset: gard_rare {source="GARD:1130", source="MONDO:GARD"}
subset: nord_rare {source="NORD:967", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2902"}
subset: orphanet_rare {source="Orphanet:2902"}
subset: rare
synonym: "Carrington syndrome" RELATED [GARD:0001130]
synonym: "Carrington's disease" RELATED [GARD:0001130]
synonym: "Carrington's pulmonary eosinophilia" RELATED [GARD:0001130]
synonym: "Chronic Eosinophilic Pneumonia" EXACT [NORD:967]
synonym: "chronic eosinophilic pneumonia" BROAD [Orphanet:2902]
synonym: "chronic eosinophilic pneumonia (CEP)" RELATED [GARD:0001130]
synonym: "chronic idiopathic eosinophilic pneumonia" RELATED [GARD:0001130]
synonym: "eosinophilic idiopathic chronic pneumopathy" RELATED [GARD:0001130]
xref: GARD:1130 {source="MONDO:GARD"}
xref: ICD10CM:J82 {source="Orphanet:2902", source="Orphanet:2902/ntbt"}
xref: icd11.foundation:958353326 {source="MONDO:equivalentTo", source="Orphanet:2902", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:443938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535590 {source="MONDO:equivalentTo"}
xref: NORD:967 {source="MONDO:NORD"}
xref: Orphanet:2902 {source="MONDO:equivalentTo"}
xref: UMLS:C2930941 {source="MEDGEN:443938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000771 {source="Orphanet:2902"} ! allergic respiratory disease
is_a: MONDO:0015927 {source="Orphanet:2902"} ! idiopathic eosinophilic pneumonia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020028"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0017364
name: POEMS syndrome
def: "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." [Orphanet:2905, PMID:23398538]
comment: POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. {source="https://www.jacionline.org/article/S0091-6749(02)91343-6/fulltext"}
subset: gard_rare {source="GARD:7411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1586"}
subset: ordo_disorder {source="Orphanet:2905"}
subset: orphanet_rare {source="Orphanet:2905"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Crow-Fukase syndrome" EXACT [Orphanet:2905]
synonym: "osteosclerotic myeloma" EXACT [Orphanet:2905]
synonym: "PEP syndrome" EXACT [Orphanet:2905]
synonym: "POEMS syndrome" EXACT [NCIT:C80303]
synonym: "polyneuropathy organomegaly" RELATED [GARD:0007411]
synonym: "polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome" RELATED [GARD:0007411]
synonym: "polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome" EXACT [Orphanet:2905]
synonym: "Takatsuki syndrome" EXACT [Orphanet:2905]
xref: DOID:14039 {source="MONDO:equivalentTo", source="EFO:1001115"}
xref: EFO:1001115 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7411 {source="MONDO:GARD"}
xref: MedDRA:10053869 {source="Orphanet:2905/e", source="EFO:1001115", source="Orphanet:2905"}
xref: MEDGEN:39276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016878 {source="Orphanet:2905/e", source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039", source="Orphanet:2905"}
xref: NANDO:1200033 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C80303 {source="MONDO:equivalentTo", source="EFO:1001115", source="MONDO:exact-label-match", source="DOID:14039"}
xref: NORD:1586 {source="MONDO:NORD"}
xref: Orphanet:2905 {source="MONDO:equivalentTo"}
xref: SCTID:79268002 {source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039"}
xref: UMLS:C0085404 {source="MEDGEN:39276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C80303"} ! syndromic disease
is_a: MONDO:0015923 {source="Orphanet:2905"} ! acquired peripheral neuropathy
is_a: MONDO:0018215 {source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic neurologic syndrome
is_a: MONDO:0021073 {source="Orphanet:2905", source="https://orcid.org/0000-0001-5208-3432"} ! paraneoplastic syndrome
is_a: MONDO:0700252 {source="https://orcid.org/0009-0001-6494-4831"} ! parneoplastic endocrine syndrome
relationship: disease_has_feature MONDO:0004959 {source="Orphanet:2905"} ! plasma cell neoplasm
relationship: disease_has_location CL:0000786 {source="PMID:23398538"} ! plasma cell
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:14039", source="https://orcid.org/0000-0001-5208-3432"} ! type IV hypersensitivity disease

[Term]
id: MONDO:0017365
name: hereditary acrokeratotic poikiloderma, Weary type
subset: gard_rare {source="GARD:18781", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2907"}
subset: orphanet_rare {source="Orphanet:2907"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital poikiloderma with bullae, Weary type" EXACT [Orphanet:2907]
xref: GARD:18781 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:2907", source="Orphanet:2907/attributed", source="Orphanet:2907/ntbt"}
xref: MEDGEN:96059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2907 {source="MONDO:equivalentTo"}
xref: UMLS:C0406556 {source="MEDGEN:96059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008260 {source="Orphanet:2907"} ! Kindler syndrome

[Term]
id: MONDO:0017366
name: hereditary pheochromocytoma-paraganglioma
def: "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas)." [Orphanet:29072]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:11984", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:29072"}
subset: orphanet_rare {source="Orphanet:29072"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial pheochromocytoma-paraganglioma" EXACT [Orphanet:29072]
synonym: "hereditary paraganglioma-pheochromocytoma" RELATED [GARD:0011984]
synonym: "hereditary pheochromocytoma-paraganglioma" EXACT CLINGEN_LABEL []
synonym: "SDHx-related paraganglioma-pheochromocytoma" RELATED [GARD:0011984]
xref: GARD:11984 {source="MONDO:GARD"}
xref: ICD10CM:C74.1 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"}
xref: ICD10CM:C75.5 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"}
xref: ICD10CM:D35.0 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"}
xref: ICD10CM:D35.6 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"}
xref: MEDGEN:313270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:29072 {source="MONDO:equivalentTo"}
xref: UMLS:C1708353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313270"}
is_a: MONDO:0005495 {source="Orphanet:29072"} ! adrenal gland disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma" xsd:anyURI {source="GARD:0011984"}

[Term]
id: MONDO:0017367
name: obsolete kindler syndrome
is_obsolete: true
replaced_by: MONDO:0008260

[Term]
id: MONDO:0017368
name: obsolete systemic disease with skin involvement
comment: This is a grouping class that is considered out of scope.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:290836"}
xref: GARD:21160 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:290836 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI
is_obsolete: true
consider: MONDO:0005093

[Term]
id: MONDO:0017369
name: obsolete autoinflammatory syndrome with immune deficiency
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome'
subset: ordo_group_of_disorders {source="Orphanet:290839"}
xref: GARD:21161 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:290839 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019751

[Term]
id: MONDO:0017370
name: obsolete autoinflammatory syndrome with skin involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome'
subset: ordo_group_of_disorders {source="Orphanet:290842"}
xref: GARD:21162 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:290842 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019751

[Term]
id: MONDO:0017371
name: obsolete rare head and neck tumor
def: "OBSOLETE. Rare head and neck neoplasia." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:290849"}
synonym: "rare head and neck neoplasia" EXACT [MONDO:patterns/rare]
synonym: "rare head and neck neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:21163 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:290849 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005586

[Term]
id: MONDO:0017372
name: congenital varicella syndrome
def: "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." [Orphanet:291]
subset: gard_rare {source="GARD:45", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1003"}
subset: ordo_disorder {source="Orphanet:291"}
subset: orphanet_rare {source="Orphanet:291"}
subset: rare
synonym: "antenatal varicella virus infection" EXACT [Orphanet:291]
synonym: "fetal effects of chickenpox" RELATED [GARD:0000045]
synonym: "fetal effects of varicella zoster virus" RELATED [GARD:0000045]
synonym: "fetal varicella infection" RELATED [GARD:0000045]
synonym: "fetal varicella zoster syndrome" RELATED [GARD:0000045]
synonym: "foetal effects of chickenpox" RELATED OMO:0003005 []
synonym: "foetal effects of varicella zoster virus" RELATED OMO:0003005 []
synonym: "foetal varicella infection" RELATED OMO:0003005 []
synonym: "foetal varicella zoster syndrome" RELATED OMO:0003005 []
synonym: "mother-to-child transmission of varicella syndrome" EXACT [Orphanet:291]
synonym: "Varicella embryopathy" RELATED [GARD:0000045]
synonym: "Varicella virus antenatal infection" RELATED [GARD:0000045]
xref: GARD:45 {source="MONDO:GARD"}
xref: ICD10CM:P35.8 {source="Orphanet:291", source="Orphanet:291/e"}
xref: icd11.foundation:2071159826 {source="MONDO:equivalentTo", source="Orphanet:291", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116800 {source="MONDO:equivalentTo"}
xref: NORD:1003 {source="MONDO:NORD"}
xref: Orphanet:291 {source="MONDO:equivalentTo"}
xref: SCTID:277644009 {source="MONDO:equivalentTo"}
xref: UMLS:C0343560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87473"}
is_a: MONDO:0002254 {source="NCIT:C116800"} ! syndromic disease
is_a: MONDO:0016511 {source="Orphanet:291"} ! infectious embryofetopathy
relationship: disease_has_infectious_agent NCBITaxon:10335 ! Human alphaherpesvirus 3
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome" xsd:anyURI {source="GARD:0000045"}

[Term]
id: MONDO:0017373
name: poliomyelitis
def: "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine." [NCIT:C35550]
subset: gard_rare {source="GARD:7413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2912"}
subset: orphanet_rare {source="Orphanet:2912"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute poliomyelitis" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C35550]
synonym: "infantile paralysis" RELATED [GARD:0007413]
synonym: "Polia" EXACT [NCIT:C35550]
synonym: "polio" EXACT [MESH:D011051, NCIT:C35550]
synonym: "poliomyelitis" EXACT [MONDO:0005926, NCIT:C35550]
xref: DOID:4953 {source="MONDO:equivalentTo", source="EFO:0007450"}
xref: EFO:0007450 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7413 {source="MONDO:GARD"}
xref: ICD10CM:A80 {source="DOID:4953"}
xref: ICD10CM:A80.0 {source="Orphanet:2912/btnt", source="Orphanet:2912"}
xref: ICD10CM:A80.1 {source="Orphanet:2912/btnt", source="Orphanet:2912"}
xref: ICD10CM:A80.2 {source="Orphanet:2912/btnt", source="Orphanet:2912"}
xref: ICD10CM:A80.3 {source="Orphanet:2912/btnt", source="Orphanet:2912"}
xref: ICD10CM:A80.4 {source="Orphanet:2912/btnt", source="Orphanet:2912"}
xref: ICD10CM:A80.9 {source="DOID:4953", source="Orphanet:2912/btnt", source="Orphanet:2912"}
xref: icd11.foundation:588527933 {source="MONDO:equivalentTo", source="Orphanet:2912", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:045 {source="DOID:4953"}
xref: ICD9:045.9 {source="DOID:4953"}
xref: ICD9:045.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:045.92 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10036012 {source="Orphanet:2912/e", source="Orphanet:2912"}
xref: MEDGEN:18545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011051 {source="Orphanet:2912/e", source="MONDO:equivalentTo", source="DOID:4953", source="EFO:0007450", source="Orphanet:2912"}
xref: NCIT:C35550 {source="MONDO:equivalentTo", source="DOID:4953"}
xref: Orphanet:2912 {source="MONDO:equivalentTo"}
xref: SCTID:154320008 {source="DOID:4953"}
xref: SCTID:186475007 {source="DOID:4953"}
xref: SCTID:186481004 {source="DOID:4953"}
xref: SCTID:187390004 {source="DOID:4953"}
xref: SCTID:266189002 {source="DOID:4953"}
xref: SCTID:367318001 {source="DOID:4953"}
xref: SCTID:398102009 {source="MONDO:equivalentTo", source="DOID:4953"}
xref: SCTID:398256009 {source="DOID:4953"}
xref: SCTID:54839009 {source="DOID:4953"}
xref: UMLS:C0032371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18545"}
is_a: MONDO:0002565 {source="MESH:D011051"} ! myelitis
is_a: MONDO:0003182 {source="Wikipedia:Anterior_horn_disease"} ! anterior horn disorder
is_a: MONDO:0005108 {source="DOID:4953", source="EFO:0007450", source="MESH:D011051/inferred", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0019056 {source="MESH:D011051", source="MONDO:indirect"} ! neuromuscular disease
is_a: MONDO:0020010 {source="MONDO:Redundant", source="NCIT:C35550/inferred", source="Orphanet:2912"} ! infectious disorder of the nervous system
is_a: MONDO:0020129 {source="Orphanet:2912"} ! acquired motor neuron disease
is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C35550/inferred"} ! inflammatory disease
is_a: MONDO:0024318 {source="MONDO:Redundant"} ! viral infection of central nervous system
is_a: MONDO:0024618 {source="MONDO:Redundant"} ! poliovirus infection
is_a: MONDO:0024619 {source="MESH:D011051/inferred", source="NCIT:C35550"} ! central nervous system infectious disorder
relationship: disease_has_infectious_agent NCBITaxon:12083 ! Poliovirus 2
relationship: disease_has_infectious_agent NCBITaxon:12086 ! Poliovirus 3
relationship: disease_has_inflammation_site UBERON:0001017 ! central nervous system
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0017374
name: obsolete polydactyly
is_obsolete: true
replaced_by: MONDO:0011348

[Term]
id: MONDO:0017375
name: congenital enterovirus infection
def: "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." [Orphanet:292]
subset: gard_rare {source="GARD:2130", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:292"}
subset: orphanet_rare {source="Orphanet:292"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antenatal enterovirus infection" EXACT [Orphanet:292]
synonym: "congenital enterovirus infection" EXACT []
synonym: "congenital enterovirus infectious disease" EXACT [MONDO:design_pattern, MONDO:patterns/congenital]
synonym: "congenital infection caused by enterovirus" EXACT []
synonym: "mother-to-child transmission of enterovirus infection" EXACT [Orphanet:292]
xref: GARD:2130 {source="MONDO:GARD"}
xref: ICD10CM:P35.8 {source="Orphanet:292", source="Orphanet:292/ntbt"}
xref: icd11.foundation:1981771784 {source="MONDO:equivalentTo", source="Orphanet:292"}
xref: MEDGEN:904399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:292 {source="MONDO:equivalentTo"}
xref: SCTID:716865000 {source="MONDO:equivalentTo"}
xref: UMLS:C4274223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904399"}
is_a: MONDO:0016511 {source="Orphanet:292"} ! infectious embryofetopathy
intersection_of: MONDO:0005747 ! enterovirus infectious disease
intersection_of: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0017376
name: reactive arthritis
def: "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis." [Orphanet:29207]
subset: gard_rare {source="GARD:5693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1650"}
subset: ordo_disorder {source="Orphanet:29207"}
subset: orphanet_rare {source="Orphanet:29207"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthritis urethritica" EXACT [Orphanet:29207]
synonym: "Fiessinger Leroy Reiter syndrome" EXACT DEPRECATED [DOID:6196]
synonym: "Fiessinger-Leroy disease" EXACT [Orphanet:29207]
synonym: "Fiessinger-Leroy-Reiter syndrome" EXACT DEPRECATED [Orphanet:29207]
synonym: "PIRA" RELATED ABBREVIATION [GARD:0005693]
synonym: "polyarthritis enterica" EXACT [Orphanet:29207]
synonym: "post-bacterial arthropathy" EXACT [DOID:6196]
synonym: "post-infectious arthritis" RELATED [GARD:0005693]
synonym: "post-infectious reactive arthropathy" RELATED [GARD:0005693]
synonym: "postdysenteric arthropathy" EXACT [DOID:6196]
synonym: "reactive arthritis" EXACT [DOID:6196]
synonym: "Reiter disease" EXACT DEPRECATED [DOID:6196, Orphanet:29207]
synonym: "Reiter syndrome" EXACT DEPRECATED [Orphanet:29207]
synonym: "Reiter's disease" EXACT DEPRECATED [DOID:6196, ICD9CM:099.3]
synonym: "Reiter's syndrome" EXACT DEPRECATED [GARD:0005693]
synonym: "venereal arthritis" EXACT [Orphanet:29207]
xref: DOID:6196 {source="MONDO:equivalentTo", source="EFO:0007460"}
xref: EFO:0007460 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5693 {source="MONDO:GARD"}
xref: ICD10CM:M02.1 {source="DOID:6196"}
xref: ICD10CM:M02.10 {source="DOID:6196"}
xref: ICD10CM:M02.3 {source="DOID:6196", source="Orphanet:29207"}
xref: ICD10CM:M02.30 {source="DOID:6196"}
xref: ICD10CM:M02.8 {source="Orphanet:29207/e"}
xref: ICD9:099.3 {source="DOID:6196"}
xref: ICD9:711.3 {source="DOID:6196"}
xref: ICD9:711.30 {source="DOID:6196"}
xref: ICD9:711.40 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10003267 {source="Orphanet:29207/e", source="Orphanet:29207"}
xref: MedDRA:10038294 {source="Orphanet:29207/e", source="Orphanet:29207"}
xref: MEDGEN:39047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016918 {source="Orphanet:29207/e", source="MONDO:equivalentTo", source="DOID:6196", source="EFO:0007460", source="Orphanet:29207"}
xref: NCIT:C128332 {source="MONDO:equivalentTo"}
xref: NCIT:C34975 {source="DOID:6196"}
xref: NORD:1650 {source="MONDO:NORD"}
xref: Orphanet:29207 {source="MONDO:equivalentTo"}
xref: SCTID:129133005 {source="MONDO:equivalentTo"}
xref: SCTID:154389006 {source="DOID:6196"}
xref: SCTID:154390002 {source="DOID:6196"}
xref: SCTID:201496000 {source="DOID:6196"}
xref: SCTID:201506009 {source="DOID:6196"}
xref: SCTID:266212009 {source="DOID:6196"}
xref: SCTID:56528004 {source="DOID:6196"}
xref: SCTID:67224007 {source="DOID:6196"}
xref: UMLS:C0085435 {source="MONDO:equivalentTo", source="MEDGEN:39047", source="MONDO:MEDGEN"}
is_a: MONDO:0005554 {source="Orphanet:29207"} ! rheumatic disorder
is_a: MONDO:0005578 {source="DOID:6196", source="EFO:0007460", source="MESH:D016918/inferred", source="NCIT:C128332"} ! arthritic joint disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis" xsd:anyURI {source="GARD:0005693"}

[Term]
id: MONDO:0017377
name: preaxial polydactyly-colobomata-intellectual disability syndrome
def: "Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive." [Orphanet:2921]
subset: gard_rare {source="GARD:4304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2921"}
subset: ordo_malformation_syndrome {source="Orphanet:2921"}
subset: orphanet_rare {source="Orphanet:2921"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pfeiffer Mayer syndrome" RELATED [GARD:0004304]
synonym: "Pfeiffer-Mayer syndrome" EXACT [Orphanet:2921]
synonym: "short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities" RELATED [GARD:0004304]
synonym: "short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities" RELATED DEPRECATED [GARD:0004304]
xref: GARD:4304 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:2921", source="Orphanet:2921/attributed", source="Orphanet:2921/ntbt"}
xref: MEDGEN:444110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537888 {source="MONDO:equivalentTo"}
xref: Orphanet:2921 {source="MONDO:equivalentTo"}
xref: SCTID:733088002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931655 {source="MEDGEN:444110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:2921"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2921", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017378
name: obsolete polymicrogyria-turricephaly-hypogenitalism syndrome
comment: Obsolete in Orphanet
xref: ICD10CM:Q87.8 {source="Orphanet:2925/attributed", source="Orphanet:2925/ntbt", source="Orphanet:2925"}
xref: Orphanet:2925 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0000087

[Term]
id: MONDO:0017379
name: polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
def: "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971." [Orphanet:2928]
comment: Editor note: awaiting HPO
subset: gard_rare {source="GARD:4424", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2928"}
subset: ordo_malformation_syndrome {source="Orphanet:2928"}
subset: orphanet_rare {source="Orphanet:2928"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lundberg syndrome" EXACT [Orphanet:2928]
synonym: "polyneuropathy - intellectual deficit - acromicria - premature menopause" RELATED [GARD:0004424]
synonym: "polyneuropathy intellectual disability acromicria premature menopause" RELATED [GARD:0004424]
synonym: "polyneuropathy mental retardation acromicria premature menopause" RELATED DEPRECATED [GARD:0004424]
xref: GARD:4424 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2928/attributed", source="Orphanet:2928/ntbt", source="Orphanet:2928"}
xref: MEDGEN:1665486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2928 {source="MONDO:equivalentTo"}
xref: UMLS:C4749397 {source="MEDGEN:1665486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: disease_has_feature MONDO:0001119 ! premature menopause
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2928", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017380
name: juvenile polyposis syndrome
def: "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." [Orphanet:2929]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3065", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2929"}
subset: orphanet_rare {source="Orphanet:2929"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JIP" EXACT ABBREVIATION [Orphanet:2929]
synonym: "jPS" EXACT [Orphanet:2929]
synonym: "juvenile gastrointestinal polyposis" EXACT [Orphanet:2929]
synonym: "juvenile intestinal polyposis" EXACT [Orphanet:2929]
synonym: "juvenile multiple polyps syndrome" EXACT [NCIT:C7754]
synonym: "juvenile polyposis" EXACT [NCIT:C7754]
synonym: "juvenile polyposis syndrome" EXACT CLINGEN_LABEL [NCIT:C7754]
synonym: "PJI" RELATED ABBREVIATION [GARD:0003065]
synonym: "polyposis familial of entire gastrointestinal tract" RELATED [GARD:0003065]
synonym: "polyposis juvenile intestinal" RELATED [GARD:0003065]
synonym: "polyposis, juvenile intestinal" EXACT [OMIM:174900, OMIM:genemap2]
xref: GARD:3065 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:2929", source="Orphanet:2929/attributed", source="Orphanet:2929/ntbt"}
xref: MEDGEN:87518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200916 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7754 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: OMIM:174900 {source="Orphanet:2929", source="Orphanet:2929/btnt", source="MONDO:equivalentTo"}
xref: Orphanet:2929 {source="MONDO:equivalentTo"}
xref: SCTID:9273005 {source="MONDO:equivalentTo"}
xref: UMLS:C0345893 {source="MONDO:equivalentTo", source="MEDGEN:87518", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0015185 {source="Orphanet:2929", source="https://orcid.org/0000-0002-3458-4839"} ! intestinal polyposis syndrome
is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C7754", source="Orphanet:2929", source="Orphanet:2929/inferred"} ! hereditary neoplastic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3685" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0017381
name: congenital herpes simplex virus infection
alt_id: MONDO:0022267
def: "Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent fetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent." [Orphanet:293]
subset: gard_rare {source="GARD:18687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293"}
subset: orphanet_rare {source="Orphanet:293"}
subset: rare
synonym: "antenatal herpes simplex virus infection" EXACT [Orphanet:293]
synonym: "congenital herpes simplex" EXACT []
synonym: "congenital herpes simplex infection" RELATED []
synonym: "mother-to-child transmission of herpes simplex virus infection" EXACT [Orphanet:293]
synonym: "neonatal herpes simplex" RELATED []
synonym: "neonatal herpes simplex virus infection" RELATED [GARD:0007173]
synonym: "neonatal HSV infection" RELATED [GARD:0007173]
synonym: "Simplexvirus caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simplexvirus infectious embryofetopathy" EXACT []
xref: GARD:18687 {source="MONDO:GARD"}
xref: ICD10CM:P35.2 {source="Orphanet:293", source="Orphanet:293/ntbt"}
xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200889 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:293 {source="MONDO:equivalentTo"}
xref: SCTID:91576008 {source="MONDO:equivalentTo"}
xref: UMLS:C0276225 {source="MEDGEN:82910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="MONDO:Entailed", source="Orphanet:293"} ! viral infectious disease
is_a: MONDO:0005550 ! infectious disease
is_a: MONDO:0016511 {source="MONDO:Entailed", source="Orphanet:293"} ! infectious embryofetopathy
intersection_of: MONDO:0016511 ! infectious embryofetopathy
intersection_of: MONDO:0100332 NCBITaxon:10294 ! disease has primary infectious agent Simplexvirus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1486/congenital-herpes-simplex" xsd:anyURI {source="GARD:0001486"}

[Term]
id: MONDO:0017382
name: familial clubfoot due to 5q31 microdeletion
subset: gard_rare {source="GARD:17336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:293144"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:293144"}
subset: rare
synonym: "hereditary clubfoot due to 5q31 microdeletion" EXACT [Orphanet:293144]
xref: GARD:17336 {source="MONDO:GARD"}
xref: ICD10CM:Q66.8 {source="Orphanet:293144", source="Orphanet:293144/attributed", source="Orphanet:293144/ntbt"}
xref: MEDGEN:1826065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293144 {source="MONDO:equivalentTo"}
xref: UMLS:C5679944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826065"}
is_a: MONDO:0007342 {source="https://orcid.org/0000-0001-5208-3432"} ! clubfoot

[Term]
id: MONDO:0017383
name: familial clubfoot due to PITX1 point mutation
subset: gard_rare {source="GARD:17337", source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:293150"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:293150"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary clubfoot due to PITX1 point mutation" EXACT [Orphanet:293150]
xref: GARD:17337 {source="MONDO:GARD"}
xref: ICD10CM:Q66.8 {source="Orphanet:293150/attributed", source="Orphanet:293150/ntbt", source="Orphanet:293150"}
xref: MEDGEN:1814442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293150 {source="MONDO:equivalentTo"}
xref: UMLS:C5679943 {source="MEDGEN:1814442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007342 {source="https://orcid.org/0000-0001-5208-3432"} ! clubfoot
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0017384
name: acute generalized exanthematous pustulosis
def: "A widespread acute rash characterized by fever and multiple small pustules on a reddish background." [NCIT:P378]
subset: gard_rare {source="GARD:21164", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293173"}
subset: orphanet_rare {source="Orphanet:293173"}
subset: rare
synonym: "AGEP" EXACT ABBREVIATION [Orphanet:293173]
synonym: "pustular drug eruption" EXACT [Orphanet:293173]
synonym: "toxic pustuloderma" EXACT [Orphanet:293173]
xref: GARD:21164 {source="MONDO:GARD"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048799 {source="Orphanet:293173", source="Orphanet:293173/e"}
xref: MEDGEN:209091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056150 {source="MONDO:equivalentTo"}
xref: NCIT:C112122 {source="MONDO:equivalentTo"}
xref: Orphanet:293173 {source="MONDO:equivalentTo"}
xref: SCTID:702617007 {source="MONDO:equivalentTo"}
xref: UMLS:C0877055 {source="MEDGEN:209091", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="MESH:D056150/inferred", source="NCIT:C112122"} ! dermatitis
is_a: MONDO:0005594 {source="PMID:29445753"} ! severe cutaneous adverse reaction
is_a: MONDO:0017396 {source="Orphanet:293173"} ! toxic dermatosis
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7258" xsd:anyURI

[Term]
id: MONDO:0017385
name: malignant migrating partial seizures of infancy
def: "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay." [NCIT:C125387]
subset: gard_rare {source="GARD:12919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293181"}
subset: orphanet_rare {source="Orphanet:293181"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant migrating partial epilepsy of infancy" EXACT [Orphanet:293181]
synonym: "malignant migrating Partial seizures in infancy" EXACT [NCIT:C125387]
synonym: "migrating partial epilepsy of infancy" EXACT [Orphanet:293181]
synonym: "migrating Partial seizures in infancy" EXACT [NCIT:C125387]
synonym: "migrating partial seizures of infancy" EXACT [Orphanet:293181]
synonym: "MMPEI" EXACT ABBREVIATION [Orphanet:293181]
synonym: "MMPSI" EXACT ABBREVIATION [Orphanet:293181]
synonym: "MPEI" EXACT ABBREVIATION [Orphanet:293181]
synonym: "MPSI" BROAD ABBREVIATION [Orphanet:293181]
xref: GARD:12919 {source="MONDO:GARD"}
xref: icd11.foundation:1727727812 {source="Orphanet:293181", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:782160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200595 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C125387 {source="MONDO:equivalentTo"}
xref: Orphanet:293181 {source="MONDO:equivalentTo"}
xref: UMLS:C3494976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:782160"}
is_a: MONDO:0020070 {source="Orphanet:293181"} ! neonatal epilepsy syndrome
relationship: has_characteristic HP:0003623 {source="NCIT:C125387"} ! Neonatal onset

[Term]
id: MONDO:0017386
name: pleomorphic rhabdomyosarcoma
def: "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." [NCIT:C4258]
subset: gard_rare {source="GARD:21165", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:293199"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic rhabdomyosarcoma" EXACT [DOID:3250, NCIT:C4258]
synonym: "pleomorphic rhabdomyosarcoma" EXACT [NCIT:C4258]
synonym: "pleomorphic rhabdomyosarcoma, adult type" EXACT [DOID:3250]
xref: DOID:3250 {source="MONDO:equivalentTo"}
xref: GARD:21165 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:293199", source="Orphanet:293199/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4258 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3250"}
xref: ONCOTREE:PLRMS {source="MONDO:equivalentTo"}
xref: Orphanet:293199 {source="MONDO:equivalentTo"}
xref: SCTID:404054005 {source="MONDO:equivalentTo", source="DOID:3250"}
xref: SCTID:77455004 {source="DOID:3250"}
xref: UMLS:C0334480 {source="MEDGEN:137770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005212 {source="DOID:3250", source="NCIT:C4258", source="ONCOTREE:PLRMS"} ! rhabdomyosarcoma

[Term]
id: MONDO:0017387
name: epithelioid sarcoma
def: "An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma)." [NCIT:C3714]
subset: gard_rare {source="GARD:10181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293202"}
subset: orphanet_rare {source="Orphanet:293202"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epithelioid cell sarcoma" EXACT [DOID:6193, NCIT:C3714]
synonym: "epithelioid sarcoma" EXACT [NCIT:C3714]
synonym: "ES" EXACT ABBREVIATION [NCIT:C3714]
xref: DOID:6193 {source="MONDO:equivalentTo"}
xref: GARD:10181 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:293202/ntbt", source="Orphanet:293202"}
xref: ICDO:8804/3 {source="NCIT:C3714"}
xref: MedDRA:10015099 {source="Orphanet:293202/e", source="Orphanet:293202"}
xref: MEDGEN:104753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012509 {source="DOID:6193"}
xref: NCIT:C3714 {source="MONDO:equivalentTo", source="DOID:6193"}
xref: ONCOTREE:EPIS {source="MONDO:equivalentTo"}
xref: Orphanet:293202 {source="MONDO:equivalentTo"}
xref: SCTID:59238007 {source="DOID:6193"}
xref: UMLS:C0205944 {source="MEDGEN:104753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018078 {source="NCIT:C3714", source="Orphanet:293202"} ! soft tissue sarcoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma" xsd:anyURI {source="GARD:0010181"}

[Term]
id: MONDO:0017388
name: celiac trunk compression syndrome
def: "A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation." [Orphanet:293208]
subset: gard_rare {source="GARD:12308", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1957", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293208"}
subset: orphanet_rare {source="Orphanet:293208"}
subset: rare
synonym: "Dunbar syndrome" EXACT [Orphanet:293208]
synonym: "Median Arcuate Ligament Syndrome" EXACT [NORD:1957]
xref: GARD:12308 {source="MONDO:GARD"}
xref: ICD10CM:I77.4 {source="Orphanet:293208", source="Orphanet:293208/e"}
xref: icd11.foundation:1666443751 {source="Orphanet:293208", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: NORD:1957 {source="MONDO:NORD"}
xref: Orphanet:293208 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 ! disease
is_a: MONDO:0004995 {source="PMID:17309066", source="PMID:29262206", source="PMID:7093835"} ! cardiovascular disorder
relationship: disease_has_location UBERON:0000916 ! abdomen
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare

[Term]
id: MONDO:0017389
name: tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
def: "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." [Orphanet:293284]
subset: gard_rare {source="GARD:21166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:293284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BH4-responsive HPA/PKU" EXACT [Orphanet:293284]
synonym: "BH4-responsive hyperphenylalaninemia/phenylketonuria" EXACT [Orphanet:293284]
synonym: "tetrahydrobiopterin-responsive HPA/PKU" EXACT [Orphanet:293284]
xref: GARD:21166 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:293284/attributed", source="Orphanet:293284/ntbt", source="Orphanet:293284"}
xref: MEDGEN:1842546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200787 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201077 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:293284 {source="MONDO:equivalentTo"}
xref: UMLS:C5679945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842546"}
is_a: MONDO:0009861 {source="Orphanet:293284"} ! phenylketonuria
relationship: disease_responds_to CHEBI:59560 ! sapropterin
relationship: has_characteristic HP:0000007 {source="Orphanet:293284"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0017390
name: obsolete methylmalonic acidemia without homocystinuria
def: "OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." [Orphanet:293355]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: methylmalonic acidemia'
subset: ordo_group_of_disorders {source="Orphanet:293355"}
synonym: "methylmalonic acidemia without homocystinuria" EXACT CLINGEN_LABEL []
synonym: "methylmalonic aciduria without homocystinuria" EXACT [Orphanet:293355]
xref: GARD:13163 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E71.1 {source="Orphanet:293355", source="Orphanet:293355/attributed", source="Orphanet:293355/ntbt"}
xref: Orphanet:293355 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002012

[Term]
id: MONDO:0017391
name: Grayson-Wilbrandt corneal dystrophy
def: "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." [Orphanet:293375]
subset: gard_rare {source="GARD:21167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293375"}
subset: orphanet_rare {source="Orphanet:293375"}
subset: rare
synonym: "GWCD" EXACT ABBREVIATION [Orphanet:293375]
xref: GARD:21167 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:293375", source="Orphanet:293375/attributed", source="Orphanet:293375/ntbt"}
xref: MEDGEN:931248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293375 {source="MONDO:equivalentTo"}
xref: SCTID:717286002 {source="MONDO:equivalentTo"}
xref: UMLS:C4305579 {source="MEDGEN:931248", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020212 {source="Orphanet:293375"} ! superficial corneal dystrophy
relationship: disease_has_location UBERON:0004370 ! anterior limiting lamina of cornea

[Term]
id: MONDO:0017392
name: pre-descemet corneal dystrophy
def: "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." [Orphanet:293462]
subset: gard_rare {source="GARD:21168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293462"}
subset: orphanet_rare {source="Orphanet:293462"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PDCD" EXACT ABBREVIATION [Orphanet:293462]
xref: GARD:21168 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:293462", source="Orphanet:293462/attributed", source="Orphanet:293462/ntbt"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:573065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293462 {source="MONDO:equivalentTo"}
xref: SCTID:231934009 {source="MONDO:equivalentTo"}
xref: UMLS:C0339282 {source="MEDGEN:573065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020213 {source="Orphanet:293462"} ! stromal corneal dystrophy

[Term]
id: MONDO:0017393
name: blepharophimosis - intellectual disability syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:10892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:293642"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis intellectual disability syndromes" RELATED [GARD:0010892]
synonym: "blepharophimosis mental retardation syndromes" RELATED DEPRECATED [GARD:0010892]
synonym: "blepharophimosis syndrome Ohdo type" RELATED [GARD:0010892]
synonym: "BMRS" EXACT ABBREVIATION [Orphanet:293642]
synonym: "Say Barber Biesecker Young-Simpson syndrome" RELATED [GARD:0010892]
synonym: "SBBYS syndrome" RELATED [GARD:0010892]
synonym: "Young Simpson syndrome" RELATED [GARD:0010892]
xref: GARD:10892 {source="MONDO:GARD"}
xref: MEDGEN:1698793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293642 {source="MONDO:equivalentTo"}
xref: UMLS:C5229849 {source="MONDO:equivalentTo", source="MEDGEN:1698793", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:293642"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:293642", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017394
name: ketamine-induced biliary dilatation
def: "Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients." [Orphanet:293807]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:293807"}
subset: ordo_disorder {source="Orphanet:293807"}
subset: orphanet_rare {source="Orphanet:293807"}
subset: rare
xref: MEDGEN:1380193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293807 {source="MONDO:equivalentTo"}
xref: SCTID:726613003 {source="MONDO:equivalentTo"}
xref: UMLS:C4512018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1380193"}
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning
relationship: disease_has_location UBERON:0001173 ! biliary tree
relationship: realized_in_response_to_stimulus CHEBI:6121 ! ketamine

[Term]
id: MONDO:0017395
name: fixed pigmented erythema
subset: gard_rare {source="GARD:21170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293812"}
subset: orphanet_rare {source="Orphanet:293812"}
subset: rare
synonym: "fixed drug eruption" EXACT [Orphanet:293812, PMID:9431719]
xref: GARD:21170 {source="MONDO:GARD"}
xref: icd11.foundation:20014644 {source="MONDO:equivalentTo", source="Orphanet:293812", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10048796 {source="Orphanet:293812/e", source="Orphanet:293812"}
xref: MEDGEN:526203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293812 {source="MONDO:equivalentTo"}
xref: SCTID:73692007 {source="MONDO:equivalentTo"}
xref: UMLS:C0221242 {source="MEDGEN:526203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017396 {source="Orphanet:293812"} ! toxic dermatosis
relationship: disease_has_feature HP:0010783 ! Erythema

[Term]
id: MONDO:0017396
name: toxic dermatosis
subset: disease_grouping
subset: gard_rare {source="GARD:21171", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:293815"}
subset: rare
xref: GARD:21171 {source="MONDO:GARD"}
xref: MEDGEN:1842825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293815 {source="MONDO:equivalentTo"}
xref: UMLS:C5680999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842825"}
is_a: MONDO:0005093 ! skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare

[Term]
id: MONDO:0017397
name: obsolete constitutional dyserythropoietic anemia
subset: ordo_group_of_disorders {source="Orphanet:293830"}
xref: GARD:21172 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D64.4 {source="Orphanet:293830", source="Orphanet:293830/attributed", source="Orphanet:293830/ntbt"}
xref: Orphanet:293830 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017398
name: 3MC syndrome
def: "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti." [Orphanet:293843]
subset: gard_rare {source="GARD:1118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293843"}
subset: ordo_malformation_syndrome {source="Orphanet:293843"}
subset: orphanet_rare {source="Orphanet:293843"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "craniofacial-ulnar-renal syndrome" EXACT [DOID:0060225, Orphanet:293843]
synonym: "Malpuech-Michels-Mingarelli-Carnevale syndrome" EXACT [Orphanet:293843]
synonym: "oculopalatoskeletal syndrome" EXACT [DOID:0060225]
xref: DOID:0060225 {source="MONDO:equivalentTo"}
xref: GARD:1118 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="DOID:0060225", source="Orphanet:293843/attributed", source="Orphanet:293843/ntbt", source="Orphanet:293843"}
xref: MEDGEN:929529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200792 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:257920 {source="MONDO:equivalentTo", source="DOID:0060225"}
xref: Orphanet:293843 {source="MONDO:equivalentTo", source="DOID:0060225"}
xref: SCTID:720756005 {source="MONDO:equivalentTo"}
xref: UMLS:C4303860 {source="MEDGEN:929529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:293843"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:293843", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:257920"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome" xsd:anyURI {source="GARD:0001118"}

[Term]
id: MONDO:0017399
name: frontotemporal dementia, right temporal atrophy variant
def: "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." [Orphanet:293848]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RTLA" EXACT ABBREVIATION [Orphanet:293848]
synonym: "rvFTD" EXACT [Orphanet:293848]
xref: ICD10CM:G31.0 {source="Orphanet:293848/attributed", source="Orphanet:293848/ntbt", source="Orphanet:293848"}
xref: Orphanet:293848 {source="MONDO:equivalentObsolete"}
xref: SCTID:716667005 {source="MONDO:equivalentTo"}
is_a: MONDO:0010857 ! semantic dementia

[Term]
id: MONDO:0017400
name: hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
def: "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated." [Orphanet:293864]
subset: gard_rare {source="GARD:5237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293864"}
subset: ordo_malformation_syndrome {source="Orphanet:293864"}
subset: orphanet_rare {source="Orphanet:293864"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia" RELATED [OMIM:615710]
synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome" EXACT CLINGEN_LABEL []
synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" RELATED [Orphanet:293864]
synonym: "Mitchell-Riley syndrome" EXACT [MONDO:Lexical, OMIM:615710]
synonym: "MTCHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615710]
xref: GARD:5237 {source="MONDO:GARD"}
xref: ICD10CM:Q45.8 {source="Orphanet:293864/attributed", source="Orphanet:293864/ntbt", source="Orphanet:293864"}
xref: MEDGEN:411637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615710 {source="MONDO:equivalentTo", source="Orphanet:293864/btnt", source="Orphanet:293864"}
xref: Orphanet:293864 {source="OMIM:615710", source="MONDO:equivalentTo"}
xref: UMLS:C2748662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411637"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21478 {source="MONDO:mim2gene_medgen"} ! RFX6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0017401
name: familial isolated arrhythmogenic ventricular dysplasia, left dominant form
subset: gard_rare {source="GARD:17345", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:293888"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" EXACT [Orphanet:293888]
xref: DOID:0070534 {source="MONDO:equivalentTo"}
xref: GARD:17345 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:293888/attributed", source="Orphanet:293888/ntbt", source="Orphanet:293888"}
xref: MEDGEN:1842559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293888 {source="MONDO:equivalentTo"}
xref: UMLS:C5679933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842559"}
is_a: MONDO:0016342 {source="Orphanet:293888"} ! familial isolated arrhythmogenic right ventricular dysplasia

[Term]
id: MONDO:0017402
name: familial isolated arrhythmogenic ventricular dysplasia, biventricular form
subset: gard_rare {source="GARD:17346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:293899"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" EXACT [Orphanet:293899]
xref: DOID:0070535 {source="MONDO:equivalentTo"}
xref: GARD:17346 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:293899/attributed", source="Orphanet:293899/ntbt", source="Orphanet:293899"}
xref: MEDGEN:1843254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293899 {source="MONDO:equivalentTo"}
xref: UMLS:C5679932 {source="MEDGEN:1843254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016342 {source="Orphanet:293899"} ! familial isolated arrhythmogenic right ventricular dysplasia

[Term]
id: MONDO:0017403
name: familial isolated arrhythmogenic ventricular dysplasia, right dominant form
subset: gard_rare {source="GARD:17347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:293910"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, classic form" EXACT [Orphanet:293910]
synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form" EXACT [Orphanet:293910]
synonym: "familial isolated arrhythmogenic ventricular dysplasia, classic form" EXACT [Orphanet:293910]
xref: GARD:17347 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:293910/attributed", source="Orphanet:293910/ntbt", source="Orphanet:293910"}
xref: Orphanet:293910 {source="MONDO:equivalentTo"}
is_a: MONDO:0016342 {source="Orphanet:293910"} ! familial isolated arrhythmogenic right ventricular dysplasia

[Term]
id: MONDO:0017404
name: distal Xq28 microduplication syndrome
def: "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism." [Orphanet:293939]
subset: gard_rare {source="GARD:17350", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293939"}
subset: ordo_malformation_syndrome {source="Orphanet:293939"}
subset: orphanet_rare {source="Orphanet:293939"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal dup(X)q(28)" EXACT [Orphanet:293939]
synonym: "distal trisomy Xq28" EXACT [Orphanet:293939]
synonym: "Xq28 Microduplication" EXACT [DECIPHER:88]
xref: DECIPHER:88 {source="MONDO:equivalentTo"}
xref: GARD:17350 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:293939/attributed", source="Orphanet:293939/ntbt", source="Orphanet:293939"}
xref: MEDGEN:1655645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293939 {source="MONDO:equivalentTo"}
xref: UMLS:C4751127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1655645"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017010 {source="Orphanet:293939"} ! partial duplication of the long arm of chromosome X
relationship: disease_arises_from_structure CHR:9606-chrXq28 {source="https://orcid.org/0000-0002-4142-7153"} ! Xq28 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:293939", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017405
name: 1p21.3 microdeletion syndrome
def: "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder." [Orphanet:293948]
subset: gard_rare {source="GARD:21173", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293948"}
subset: ordo_malformation_syndrome {source="Orphanet:293948"}
subset: orphanet_rare {source="Orphanet:293948"}
subset: rare
synonym: "Del(1)p(21.3)" EXACT [Orphanet:293948]
synonym: "monosomy 1p21.3" EXACT [Orphanet:293948]
xref: GARD:21173 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:293948", source="Orphanet:293948/attributed", source="Orphanet:293948/ntbt"}
xref: MEDGEN:930247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293948 {source="MONDO:equivalentTo"}
xref: SCTID:719600006 {source="MONDO:equivalentTo"}
xref: UMLS:C4304578 {source="MEDGEN:930247", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016883 {source="Orphanet:293948"} ! partial deletion of the short arm of chromosome 1
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1p21.3 ! 1p21.3 (Human)
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017406
name: hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
subset: gard_rare {source="GARD:21174", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:293967"}
subset: ordo_malformation_syndrome {source="Orphanet:293967"}
subset: orphanet_rare {source="Orphanet:293967"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome" EXACT [Orphanet:293967]
xref: GARD:21174 {source="MONDO:GARD"}
xref: MEDGEN:1663043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293967 {source="MONDO:equivalentTo"}
xref: UMLS:C4751123 {source="MONDO:equivalentTo", source="MEDGEN:1663043", source="MONDO:MEDGEN"}
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0017407
name: deficiency in anterior pituitary function - variable immunodeficiency syndrome
subset: gard_rare {source="GARD:17353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:293978"}
subset: orphanet_rare {source="Orphanet:293978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "David syndrome" EXACT [Orphanet:293978]
xref: GARD:17353 {source="MONDO:GARD"}
xref: MEDGEN:1666981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:293978 {source="MONDO:equivalentTo"}
xref: UMLS:C4751122 {source="MONDO:equivalentTo", source="MEDGEN:1666981", source="MONDO:MEDGEN"}
is_a: MONDO:0014260 ! immunodeficiency, common variable, 10
is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency

[Term]
id: MONDO:0017408
name: rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
def: "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin." [NCIT:C121944]
subset: gard_rare {source="GARD:10407", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1648"}
subset: ordo_disorder {source="Orphanet:293987"}
subset: orphanet_rare {source="Orphanet:293987"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome" EXACT [Orphanet:293987]
synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndrome" EXACT OMO:0003005 []
synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation" RELATED [GARD:0010407]
synonym: "Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation" EXACT [NORD:1648]
synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation" EXACT [NCIT:C121944]
synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome" EXACT [NCIT:C121944]
synonym: "ROHHAD" EXACT ABBREVIATION [Orphanet:293987]
synonym: "ROHHAD syndrome" EXACT [NCIT:C121944]
synonym: "ROHHADNET" EXACT ABBREVIATION [Orphanet:293987]
xref: GARD:10407 {source="MONDO:GARD"}
xref: MEDGEN:1670711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121944 {source="MONDO:equivalentTo"}
xref: NORD:1648 {source="MONDO:NORD"}
xref: Orphanet:293987 {source="MONDO:equivalentTo"}
xref: UMLS:C4751121 {source="MEDGEN:1670711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder

[Term]
id: MONDO:0017409
name: fetal cytomegalovirus syndrome
def: "An infection with the Cytomegalovirus that is present from birth." []
subset: gard_rare {source="GARD:1480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294"}
subset: orphanet_rare {source="Orphanet:294"}
subset: rare
synonym: "antenatal CMV infection" EXACT [Orphanet:294]
synonym: "antenatal cytomegalovirus infection" EXACT [Orphanet:294]
synonym: "CMV antenatal infection" RELATED [GARD:0001409]
synonym: "congenital Cytomegaloviral infection" EXACT [NCIT:C122427]
synonym: "congenital cytomegalovirus" RELATED [GARD:0001480]
synonym: "mother-to-child transmission of cytomegalovirus syndrome" EXACT [Orphanet:294]
xref: GARD:1480 {source="MONDO:GARD"}
xref: ICD10CM:P35.1 {source="Orphanet:294", source="Orphanet:294/e"}
xref: icd11.foundation:1515465998 {source="MONDO:equivalentTo", source="Orphanet:294", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:578789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200891 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122427 {source="MONDO:equivalentTo"}
xref: Orphanet:294 {source="MONDO:equivalentTo", source="GARD:0001480"}
xref: SCTID:276701009 {source="MONDO:equivalentTo"}
xref: UMLS:C0349499 {source="MEDGEN:578789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005132 {source="NCIT:C122427", source="https://orcid.org/0000-0002-6601-2165"} ! cytomegalovirus infection
is_a: MONDO:0016511 {source="Orphanet:294"} ! infectious embryofetopathy
intersection_of: MONDO:0005132 ! cytomegalovirus infection
intersection_of: has_characteristic HP:0011461 ! Fetal onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1409/cmv-antenatal-infection" xsd:anyURI {source="GARD:0001409"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1480/congenital-cytomegalovirus" xsd:anyURI {source="GARD:0001480"}

[Term]
id: MONDO:0017410
name: porencephaly
def: "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." [Orphanet:2940]
subset: gard_rare {source="GARD:7430", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2940"}
subset: orphanet_rare {source="Orphanet:2940"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0060263 {source="MONDO:equivalentTo"}
xref: GARD:7430 {source="MONDO:GARD"}
xref: HP:0002132 {source="DOID:0060263", source="MONDO:otherHierarchy"}
xref: ICD10CM:Q04.6 {source="DOID:0060263", source="Orphanet:2940/ntbt", source="Orphanet:2940", source="Orphanet:2940/index"}
xref: icd11.foundation:137059367 {source="Orphanet:2940", source="MONDO:equivalentTo"}
xref: MedDRA:10036172 {source="Orphanet:2940", source="Orphanet:2940/e"}
xref: MEDGEN:901502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065708 {source="DOID:0060263", source="MONDO:equivalentTo"}
xref: NANDO:1201074 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:2940 {source="DOID:0060263", source="MONDO:equivalentTo"}
xref: SCTID:204071008 {source="DOID:0060263"}
xref: SCTID:38353004 {source="DOID:0060263"}
xref: SCTID:698837003 {source="DOID:0060263"}
xref: UMLS:C4082173 {source="MEDGEN:901502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017103 {source="Orphanet:2940"} ! encephaloclastic disorder
relationship: disease_has_feature MONDO:0100035 {source="https://orcid.org/0000-0001-8486-0558"} ! structural epilepsy
relationship: excluded_subClassOf MONDO:0015655 {source="Orphanet:2940", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cerebral malformation with epilepsy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7430/porencephaly" xsd:anyURI {source="GARD:0007430"}

[Term]
id: MONDO:0017411
name: neonatal inflammatory skin and bowel disease
def: "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." [Orphanet:294023]
subset: gard_rare {source="GARD:17355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294023"}
subset: orphanet_rare {source="Orphanet:294023"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammatory skin and bowel disease, neonatal" EXACT [MONDO:0000180]
xref: GARD:17355 {source="MONDO:GARD"}
xref: MEDGEN:1648296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:614328 {source="MONDO:equivalentTo"}
xref: Orphanet:294023 {source="MONDO:equivalentTo"}
xref: UMLS:C4751120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648296"}
is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:294023"} ! intestinal disorder
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0005265 {source="MONDO:Redundant", source="Orphanet:294023"} ! inflammatory bowel disease
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
is_a: MONDO:0019751 ! autoinflammatory syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015187", source="MONDO:0015616"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614328"} ! inherited

[Term]
id: MONDO:0017412
name: obsolete 2q31.1 microduplication syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4278" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013363

[Term]
id: MONDO:0017413
name: Reunion island Larsen syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome" EXACT [Orphanet:294049]
synonym: "RLS" EXACT ABBREVIATION [Orphanet:294049]
xref: ICD10CM:Q74.8 {source="Orphanet:294049/attributed", source="Orphanet:294049/ntbt", source="Orphanet:294049"}
xref: Orphanet:294049 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0017749 {source="Orphanet:294049"} ! disorder of multiple glycosylation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0017414
name: obsolete rare nevus
def: "OBSOLETE. Rare nevus." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:294057"}
synonym: "rare melanocytic nevus" EXACT [MONDO:patterns/rare]
synonym: "rare nevus" EXACT []
xref: GARD:21176 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:294057 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005073

[Term]
id: MONDO:0017415
name: multiple pterygium syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:21177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1632"}
subset: ordo_group_of_disorders {source="Orphanet:294060"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pterygium syndrome" RELATED [MESH:C537377]
synonym: "Pterygium Syndrome, Multiple" EXACT [NORD:1632]
xref: DOID:0080110 {source="MONDO:equivalentTo"}
xref: GARD:21177 {source="MONDO:GARD"}
xref: ICD10CM:Q79.8 {source="Orphanet:294060/attributed", source="Orphanet:294060/ntbt", source="Orphanet:294060"}
xref: icd11.foundation:834369371 {source="MONDO:equivalentTo", source="Orphanet:294060"}
xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C537377 {source="MONDO:equivalentTo"}
xref: NORD:1632 {source="MONDO:NORD"}
xref: Orphanet:294060 {source="MONDO:equivalentTo"}
xref: SCTID:205819008 {source="MONDO:equivalentTo"}
is_a: MONDO:0015225 {source="Orphanet:294060"} ! arthrogryposis syndrome

[Term]
id: MONDO:0017416
name: postpoliomyelitis syndrome
def: "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." [Orphanet:2942]
subset: gard_rare {source="GARD:4454", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1600"}
subset: ordo_disorder {source="Orphanet:2942"}
subset: orphanet_rare {source="Orphanet:2942"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polio late effects" RELATED [GARD:0004454]
synonym: "Post Polio Syndrome" EXACT [NORD:1600]
synonym: "post polio syndrome" RELATED [GARD:0004454]
synonym: "post-polio muscular atrophy" RELATED [GARD:0004454]
synonym: "post-polio sequelae" RELATED [GARD:0004454]
synonym: "post-poliomyelitic syndrome" RELATED [GARD:0004454]
synonym: "postpolio sequelae" EXACT [Orphanet:2942]
synonym: "postpolio syndrome" EXACT [DOID:4952, Orphanet:2942]
synonym: "postpoliomyelitic syndrome" EXACT [Orphanet:2942]
synonym: "postpoliomyelitis sequelae" EXACT [Orphanet:2942]
synonym: "postpoliomyelitis syndrome" EXACT [MONDO:0005930]
xref: DOID:4952 {source="MONDO:equivalentTo", source="EFO:0007454"}
xref: EFO:0007454 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4454 {source="MONDO:GARD"}
xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G14 {source="DOID:4952", source="Orphanet:2942", source="Orphanet:2942/e"}
xref: icd11.foundation:2018885243 {source="MONDO:equivalentTo", source="Orphanet:2942", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:36363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016262 {source="DOID:4952", source="MONDO:equivalentTo", source="EFO:0007454"}
xref: NORD:1600 {source="MONDO:NORD"}
xref: Orphanet:2942 {source="MONDO:equivalentTo"}
xref: SCTID:31097004 {source="DOID:4952", source="MONDO:equivalentTo"}
xref: SCTID:367094007 {source="DOID:4952"}
xref: UMLS:C0080040 {source="MONDO:equivalentTo", source="MEDGEN:36363", source="MONDO:MEDGEN"}
is_a: MONDO:0017373 {source="DOID:4952", source="MESH:D016262"} ! poliomyelitis
is_a: MONDO:0020129 {source="MONDO:Redundant", source="Orphanet:2942"} ! acquired motor neuron disease
relationship: disease_has_feature HP:0001324 ! Muscle weakness
relationship: disease_has_feature HP:0010535 ! Sleep apnea
relationship: disease_has_location CL:0000187 {source="EFO:0000784"} ! muscle cell

[Term]
id: MONDO:0017417
name: renal-hepatic-pancreatic dysplasia
def: "A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes." [https://orcid.org/0000-0001-5208-3432, Orphanet:294415]
subset: gard_rare {source="GARD:17356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294415"}
subset: ordo_malformation_syndrome {source="Orphanet:294415"}
subset: orphanet_rare {source="Orphanet:294415"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ivemark II syndrome" EXACT [Orphanet:294415]
synonym: "Ivemark's syndrome" EXACT [DOID:0060259]
synonym: "Renohepaticopancreatic dysplasia" EXACT [Orphanet:294415]
xref: DOID:0060259 {source="MONDO:equivalentTo"}
xref: GARD:17356 {source="MONDO:GARD"}
xref: MEDGEN:382215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:208540 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:294415 {source="DOID:0060259", source="MONDO:equivalentTo"}
xref: SCTID:763891005 {source="MONDO:equivalentTo"}
xref: UMLS:C2673883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382215"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0015214 {source="Orphanet:294415", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic visceral malformation
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:294415", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:208540"} ! inherited

[Term]
id: MONDO:0017418
name: chronic intestinal failure
def: "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease)." [Orphanet:294422]
subset: gard_rare {source="GARD:21178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:294422"}
subset: ordo_disorder {source="Orphanet:294422"}
subset: orphanet_rare {source="Orphanet:294422"}
subset: rare
synonym: "CIF" EXACT ABBREVIATION [Orphanet:294422]
xref: GARD:21178 {source="MONDO:GARD"}
xref: MEDGEN:909276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294422 {source="MONDO:equivalentTo"}
xref: SCTID:716665002 {source="MONDO:equivalentTo"}
xref: UMLS:C4274352 {source="MEDGEN:909276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="Orphanet:294422"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare

[Term]
id: MONDO:0017419
name: non-syndromic amelia
def: "A congenital malformation characterized by the complete absence of all limbs." [NCIT:C34370]
subset: disease_grouping
subset: gard_rare {source="GARD:21179", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:294925"}
subset: rare
synonym: "amelia" BROAD [MONDO:ambiguous]
synonym: "isolated amelia" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic amelia" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:21179 {source="MONDO:GARD"}
xref: HP:0009827 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q73.0 {source="Orphanet:294925", source="Orphanet:294925/e", source="Orphanet:294925/specific"}
xref: MedDRA:10001926 {source="Orphanet:294925", source="Orphanet:294925/e"}
xref: MEDGEN:8014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34370 {source="MONDO:equivalentTo"}
xref: Orphanet:294925 {source="MONDO:equivalentTo"}
xref: SCTID:62588002 {source="MONDO:equivalentTo"}
xref: UMLS:C0002447 {source="MEDGEN:8014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="PMID:22002956", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:22002956", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0019713 {source="MONDO:Redundant", source="Orphanet:294925", source="Orphanet:294925/inferred"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0019713 ! non-syndromic limb reduction defect
intersection_of: disease_has_feature HP:0009827 ! Amelia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0017420
name: obsolete intercalary limb defects
subset: ordo_group_of_disorders {source="Orphanet:294927"}
synonym: "intercalary meromelia" EXACT [Orphanet:294927]
xref: GARD:21180 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:294927 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017421
name: obsolete non-syndromic terminal limb defects
synonym: "isolated terminal limb defects" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic terminal limb defects" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "terminal limb defects" EXACT [Orphanet:294929]
synonym: "terminal meromelia" EXACT [Orphanet:294929]
xref: Orphanet:294929 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017422
name: obsolete adactyly of hand
synonym: "fingers absent" EXACT [Orphanet:294931]
xref: ICD10CM:Q71.3 {source="Orphanet:294931/attributed", source="Orphanet:294931/ntbt", source="Orphanet:294931"}
xref: Orphanet:294931 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017423
name: obsolete split hand or/and split foot malformation
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
xref: ICD10CM:Q71.6 {source="Orphanet:294935", source="Orphanet:294935/attributed", source="Orphanet:294935/btnt"}
xref: ICD10CM:Q72.7 {source="Orphanet:294935", source="Orphanet:294935/attributed", source="Orphanet:294935/btnt"}
xref: Orphanet:294935 {source="MONDO:obsoleteEquivalentObsolete"}
relationship: excluded_subClassOf MONDO:0017421 {source="Orphanet:294935", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic terminal limb defects
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017424
name: non-syndromic brachydactyly
comment: Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "brachydactyly" RELATED [MONDO:ambiguous]
synonym: "isolated brachydactyly" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic brachydactyly" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: Orphanet:294937 {source="MONDO:equivalentObsolete", source="DOID:0050581"}
xref: SCTID:43476002 {source="MONDO:equivalentTo"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
relationship: disease_has_feature HP:0001156 ! Brachydactyly

[Term]
id: MONDO:0017425
name: preaxial polydactyly of fingers
def: "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." [Orphanet:294939]
subset: disease_grouping
subset: gard_rare {source="GARD:12767", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "preaxial polydactyly of hand" EXACT [Orphanet:294939]
xref: GARD:12767 {source="MONDO:GARD"}
xref: ICD10CM:Q69.1 {source="Orphanet:294939/attributed", source="Orphanet:294939/ntbt", source="Orphanet:294939"}
xref: MEDGEN:87498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:174400 {source="MONDO:equivalentTo"}
xref: Orphanet:294939 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0345354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87498"}
is_a: MONDO:0011348 {source="Orphanet:294939"} ! non-syndromic polydactyly
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:174400"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers" xsd:anyURI {source="GARD:0012767"}

[Term]
id: MONDO:0017426
name: postaxial polydactyly of fingers
comment: Editor note: check
subset: disease_grouping
subset: gard_rare {source="GARD:12460", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "postaxial polydactyly of hand" EXACT [Orphanet:294942]
xref: GARD:12460 {source="MONDO:GARD"}
xref: ICD10CM:Q69.0 {source="Orphanet:294942/attributed", source="Orphanet:294942/ntbt", source="Orphanet:294942"}
xref: MEDGEN:609221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294942 {source="MONDO:equivalentObsolete"}
xref: SCTID:205131007 {source="MONDO:equivalentTo"}
xref: UMLS:C0431904 {source="MEDGEN:609221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011348 {source="Orphanet:294942"} ! non-syndromic polydactyly

[Term]
id: MONDO:0017427
name: congenital deformities of limbs
subset: disease_grouping
subset: gard_rare {source="GARD:21181", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:294944"}
subset: rare
xref: GARD:21181 {source="MONDO:GARD"}
xref: MedDRA:10024500 {source="Orphanet:294944/e", source="Orphanet:294944"}
xref: MEDGEN:60222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294944 {source="MONDO:equivalentTo"}
xref: UMLS:C0206762 {source="MEDGEN:60222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017428
name: obsolete congenital deformities of fingers
subset: ordo_group_of_disorders {source="Orphanet:294947"}
xref: GARD:21182 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q68.1 {source="Orphanet:294947", source="Orphanet:294947/attributed", source="Orphanet:294947/ntbt"}
xref: Orphanet:294947 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017429
name: obsolete joint formation defects
subset: ordo_group_of_disorders {source="Orphanet:294949"}
xref: GARD:21183 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1429730271 {source="Orphanet:294949", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:294949 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015227 {source="Orphanet:294949", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic limb malformation
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017430
name: obsolete non-syndromic congenital joint dislocations
subset: ordo_group_of_disorders {source="Orphanet:294951"}
synonym: "congenital joint dislocations" RELATED [Orphanet:294951]
xref: GARD:21184 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:294951 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017431
name: obsolete non-syndromic limb overgrowth
subset: ordo_group_of_disorders {source="Orphanet:294953"}
synonym: "limb overgrowth" RELATED [Orphanet:294953]
xref: GARD:21185 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:294953 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017432
name: obsolete syndrome with limb reduction defects
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:294955"}
xref: GARD:21186 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:294955 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0017433
name: obsolete dysostosis with combined reduction defects of upper and lower limbs
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:294957"}
xref: GARD:21187 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1211657447 {source="Orphanet:294957", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:294957 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0017434
name: obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:294959"}
xref: GARD:21188 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1911144861 {source="Orphanet:294959", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:294959 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0017435
name: popliteal pterygium syndrome
def: "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora." [NCIT:P378]
comment: Editor notes: DO classifies as autosomal dominant, however there is an autosomal recessive subclass (Bartsocas-Papas).
subset: disease_grouping
subset: gard_rare {source="GARD:21189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:294963"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facio-genito-popliteal syndrome" EXACT [DOID:0060055]
synonym: "popliteal web syndrome" RELATED EXCLUDE [DOID:0060055]
synonym: "PPS" EXACT ABBREVIATION [NCIT:C118786]
xref: DOID:0060055 {source="MONDO:equivalentTo"}
xref: GARD:21189 {source="MONDO:GARD"}
xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562509 {source="DOID:0060055", source="MONDO:equivalentTo"}
xref: NCIT:C118786 {source="DOID:0060055", source="MONDO:equivalentTo"}
xref: Orphanet:1300 {source="DOID:0060055"}
xref: Orphanet:294963 {source="DOID:0060055", source="MONDO:equivalentTo"}
xref: SCTID:205820002 {source="DOID:0060055"}
xref: SCTID:66783006 {source="DOID:0060055", source="MONDO:equivalentTo"}
xref: UMLS:C0265259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78543"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118786"} ! syndromic disease
is_a: MONDO:0015225 {source="Orphanet:294963"} ! arthrogryposis syndrome
is_a: MONDO:1040010 {source="PMID:14757865", source="PMID:18478600", source="PMID:20803643", source="PMID:25691407", source="PMID:27252970"} ! IRF6-related condition
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:294963", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations

[Term]
id: MONDO:0017436
name: lethal congenital contracture syndrome
def: "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." [DOID:0060558, PMID:22610851]
subset: disease_grouping
subset: gard_rare {source="GARD:12643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:294965"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LCCS" EXACT ABBREVIATION [Orphanet:294965]
xref: DOID:0060558 {source="MONDO:equivalentTo"}
xref: GARD:12643 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="DOID:0060558", source="Orphanet:294965/attributed", source="Orphanet:294965/ntbt", source="Orphanet:294965"}
xref: OMIMPS:253310 {source="MONDO:equivalentTo", source="DOID:0060558"}
xref: Orphanet:294965 {source="MONDO:equivalentTo", source="DOID:0060558"}
is_a: MONDO:0015225 {source="Orphanet:294965"} ! arthrogryposis syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:253310"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017437
name: amelia of upper limb
def: "A non-syndromic amelia that involves the forelimb." [MONDO:patterns/location]
subset: gard_rare {source="GARD:21190", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294967"}
subset: ordo_morphological_anomaly {source="Orphanet:294967"}
subset: orphanet_rare {source="Orphanet:294967"}
subset: rare
synonym: "forelimb non-syndromic amelia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "non-syndromic amelia of forelimb" EXACT [MONDO:design_pattern]
xref: GARD:21190 {source="MONDO:GARD"}
xref: HP:0009812 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q71.0 {source="Orphanet:294967/specific", source="Orphanet:294967/e", source="Orphanet:294967"}
xref: icd11.foundation:565435388 {source="MONDO:equivalentTo", source="Orphanet:294967"}
xref: MEDGEN:539335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294967 {source="MONDO:equivalentTo"}
xref: SCTID:205306000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539335"}
is_a: MONDO:0017419 {source="MONDO:Redundant", source="Orphanet:294967"} ! non-syndromic amelia
intersection_of: MONDO:0017419 ! non-syndromic amelia
intersection_of: disease_has_location UBERON:0002102 ! forelimb

[Term]
id: MONDO:0017438
name: amelia of lower limb
def: "A non-syndromic amelia that involves the hindlimb." [MONDO:patterns/location]
subset: gard_rare {source="GARD:21191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294969"}
subset: ordo_morphological_anomaly {source="Orphanet:294969"}
subset: orphanet_rare {source="Orphanet:294969"}
subset: rare
synonym: "hindlimb non-syndromic amelia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "non-syndromic amelia of hindlimb" EXACT [MONDO:design_pattern]
xref: GARD:21191 {source="MONDO:GARD"}
xref: HP:0009818 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q72.0 {source="Orphanet:294969", source="Orphanet:294969/e", source="Orphanet:294969/specific"}
xref: icd11.foundation:540310468 {source="Orphanet:294969", source="MONDO:equivalentTo"}
xref: MEDGEN:539370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294969 {source="MONDO:equivalentTo"}
xref: SCTID:265798000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265621 {source="MONDO:equivalentTo", source="MEDGEN:539370", source="MONDO:MEDGEN"}
is_a: MONDO:0017419 {source="MONDO:Redundant", source="Orphanet:294969"} ! non-syndromic amelia
intersection_of: MONDO:0017419 ! non-syndromic amelia
intersection_of: disease_has_location UBERON:0002103 ! hindlimb

[Term]
id: MONDO:0017439
name: tetra-amelia
subset: gard_rare {source="GARD:5148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294971"}
subset: ordo_morphological_anomaly {source="Orphanet:294971"}
subset: orphanet_rare {source="Orphanet:294971"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "tetra-amelia syndrome" RELATED [GARD:0005148]
synonym: "tetra-amelia, autosomal recessive" RELATED [GARD:0005148]
synonym: "Tetraamelia, autosomal recessive" RELATED [GARD:0005148]
synonym: "total amelia" EXACT [Orphanet:294971]
xref: GARD:5148 {source="MONDO:GARD"}
xref: HP:0003057 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q73.0 {source="Orphanet:294971", source="Orphanet:294971/attributed", source="Orphanet:294971/ntbt"}
xref: MEDGEN:444004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536498 {source="MONDO:equivalentTo"}
xref: Orphanet:294971 {source="MONDO:equivalentTo"}
xref: SCTID:702313004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931216 {source="MEDGEN:444004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017419 {source="Orphanet:294971"} ! non-syndromic amelia

[Term]
id: MONDO:0017440
name: humeral agenesis/hypoplasia
def: "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist." [Orphanet:294973]
subset: gard_rare {source="GARD:21192", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294973"}
subset: ordo_morphological_anomaly {source="Orphanet:294973"}
subset: orphanet_rare {source="Orphanet:294973"}
subset: rare
synonym: "congenital absence of humerus" EXACT [Orphanet:294973]
synonym: "congenital hypoplasia of humerus" EXACT [Orphanet:294973]
synonym: "humeral intercalary meromelia" EXACT [Orphanet:294973]
xref: GARD:21192 {source="MONDO:GARD"}
xref: ICD10CM:Q71.8 {source="Orphanet:294973/ntbt", source="Orphanet:294973", source="Orphanet:294973/index"}
xref: icd11.foundation:1431381856 {source="MONDO:equivalentTo", source="Orphanet:294973", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:672328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294973 {source="MONDO:equivalentTo"}
xref: UMLS:C0685375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:672328"}
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
is_a: MONDO:0019713 {source="Orphanet:294973", source="Orphanet:294973/inferred"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0017441
name: congenital absence of upper arm and forearm with hand present
def: "A congenital malformation in which the upper portion of a limb is either shortened or absent." [NCIT:C34928]
subset: gard_rare {source="GARD:12123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294975"}
subset: ordo_morphological_anomaly {source="Orphanet:294975"}
subset: orphanet_rare {source="Orphanet:294975"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "humero-radio-ulnar intercalary transverse meromelia" EXACT [Orphanet:294975]
synonym: "phocomelia" EXACT [Orphanet:294975]
xref: GARD:12123 {source="MONDO:GARD"}
xref: ICD10CM:Q71.1 {source="Orphanet:294975/specific", source="Orphanet:294975/e", source="MONDO:equivalentTo", source="Orphanet:294975"}
xref: icd11.foundation:1157109358 {source="MONDO:equivalentTo", source="Orphanet:294975", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:539337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34928 {source="MONDO:equivalentTo"}
xref: Orphanet:294975 {source="MONDO:equivalentTo"}
xref: SCTID:22841008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265574 {source="MEDGEN:539337", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="PMID: 16322613", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID: 16322613", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017442
name: congenital absence of thigh and lower leg with foot present
subset: gard_rare {source="GARD:21193", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294977"}
subset: ordo_morphological_anomaly {source="Orphanet:294977"}
subset: orphanet_rare {source="Orphanet:294977"}
subset: rare
synonym: "Femorotibiofibular intercalary transverse meromelia" EXACT [Orphanet:294977]
xref: GARD:21193 {source="MONDO:GARD"}
xref: ICD10CM:Q72.1 {source="Orphanet:294977/specific", source="Orphanet:294977/e", source="MONDO:equivalentTo", source="Orphanet:294977"}
xref: icd11.foundation:1165997650 {source="MONDO:equivalentTo", source="Orphanet:294977", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:755.33 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294977 {source="MONDO:equivalentTo"}
xref: SCTID:55852007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539373"}
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017443
name: congenital absence of both forearm and hand
def: "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." [Orphanet:294979]
subset: gard_rare {source="GARD:21194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294979"}
subset: ordo_morphological_anomaly {source="Orphanet:294979"}
subset: orphanet_rare {source="Orphanet:294979"}
subset: rare
synonym: "radio-ulnar terminal transverse meromelia" EXACT [Orphanet:294979]
xref: GARD:21194 {source="MONDO:GARD"}
xref: ICD10CM:Q71.2 {source="Orphanet:294979", source="MONDO:equivalentTo", source="Orphanet:294979/e", source="Orphanet:294979/specific"}
xref: icd11.foundation:810894993 {source="Orphanet:294979", source="MONDO:equivalentTo"}
xref: MEDGEN:727129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294979 {source="MONDO:equivalentTo"}
xref: UMLS:C1306663 {source="MEDGEN:727129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="PMID: 27047864", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID: 27047864", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017444
name: congenital absence of both lower leg and foot
subset: gard_rare {source="GARD:21195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294981"}
subset: ordo_morphological_anomaly {source="Orphanet:294981"}
subset: orphanet_rare {source="Orphanet:294981"}
subset: rare
synonym: "tibiofibular terminal transverse meromelia" EXACT [Orphanet:294981]
xref: GARD:21195 {source="MONDO:GARD"}
xref: ICD10CM:Q72.2 {source="MONDO:equivalentTo", source="Orphanet:294981", source="Orphanet:294981/specific", source="Orphanet:294981/e"}
xref: icd11.foundation:835905199 {source="MONDO:equivalentTo", source="Orphanet:294981"}
xref: MEDGEN:609276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294981 {source="MONDO:equivalentTo"}
xref: SCTID:278532000 {source="MONDO:equivalentTo"}
xref: UMLS:C0431991 {source="MEDGEN:609276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017445
name: acheiria
subset: gard_rare {source="GARD:21196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294983"}
subset: ordo_morphological_anomaly {source="Orphanet:294983"}
subset: orphanet_rare {source="Orphanet:294983"}
subset: rare
synonym: "congenital absence of hand" EXACT [Orphanet:294983]
xref: GARD:21196 {source="MONDO:GARD"}
xref: ICD10CM:Q71.3 {source="Orphanet:294983/specific", source="Orphanet:294983", source="Orphanet:294983/e"}
xref: icd11.foundation:1428065029 {source="MONDO:equivalentTo", source="Orphanet:294983"}
xref: MEDGEN:488815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294983 {source="MONDO:equivalentTo"}
xref: SCTID:371199008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488815"}
is_a: MONDO:0018230 {source="PMID:36204397", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:36204397", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017446
name: apodia
subset: gard_rare {source="GARD:21197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:294986"}
subset: ordo_morphological_anomaly {source="Orphanet:294986"}
subset: orphanet_rare {source="Orphanet:294986"}
subset: rare
synonym: "congenital absence of foot" EXACT [Orphanet:294986]
xref: GARD:21197 {source="MONDO:GARD"}
xref: ICD10CM:Q72.3 {source="Orphanet:294986/specific", source="Orphanet:294986/e", source="Orphanet:294986"}
xref: icd11.foundation:1419324219 {source="MONDO:equivalentTo", source="Orphanet:294986"}
xref: MEDGEN:488816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294986 {source="MONDO:equivalentTo"}
xref: SCTID:371197005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488816"}
is_a: MONDO:0018230 {source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017447
name: obsolete congenital absence/hypoplasia of thumb
def: "OBSOLETE. Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome." [Orphanet:294988]
subset: ordo_disorder {source="Orphanet:294988"}
subset: ordo_morphological_anomaly {source="Orphanet:294988"}
synonym: "thumb hypodactyly" EXACT [Orphanet:294988]
synonym: "thumb oligodactyly" EXACT [Orphanet:294988]
xref: GARD:21198 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q71.3 {source="Orphanet:294988/attributed", source="Orphanet:294988/ntbt", source="Orphanet:294988"}
xref: Orphanet:294988 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6472" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017448
name: obsolete congenital absence/hypoplasia of fingers excluding thumb
subset: ordo_morphological_anomaly {source="Orphanet:294990"}
synonym: "digits 2-5 hypodactyly" EXACT [Orphanet:294990]
synonym: "digits 2-5 oligodactyly" EXACT [Orphanet:294990]
xref: ICD10CM:Q71.3 {source="Orphanet:294990/attributed", source="Orphanet:294990/ntbt", source="Orphanet:294990"}
xref: Orphanet:294990 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017449
name: split hand
def: "Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." [Orphanet:294992]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:294992"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectrodactyly of hand" EXACT [Orphanet:294992]
synonym: "split hand" EXACT [MONDO:ambiguous]
synonym: "split hand (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0001171 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q71.6 {source="Orphanet:294992", source="Orphanet:294992/specific", source="Orphanet:294992/e"}
xref: MEDGEN:397570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294992 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2699510 {source="MEDGEN:397570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018234 {source="PMID:12668597", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "split hand (disease)" xsd:string

[Term]
id: MONDO:0017450
name: split foot
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:294994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "split foot" EXACT [MONDO:ambiguous]
synonym: "split foot (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0001839 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q72.7 {source="Orphanet:294994/specific", source="Orphanet:294994", source="Orphanet:294994/e"}
xref: MEDGEN:140919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294994 {source="MONDO:equivalentObsolete"}
xref: SCTID:205358006 {source="MONDO:equivalentTo"}
xref: UMLS:C0432028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140919"}
is_a: MONDO:0018234 {source="PMID:12668597", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "split foot (disease)" xsd:string

[Term]
id: MONDO:0017451
name: non-syndromic brachydactyly of fingers
def: "A non-syndromic brachydactyly that involves the manus." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: ordo_morphological_anomaly {source="Orphanet:294996"}
synonym: "manus non-syndromic brachydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "non-syndromic brachydactyly of manus" EXACT [MONDO:design_pattern]
synonym: "short fingers" EXACT [Orphanet:294996]
xref: ICD10CM:Q71.8 {source="Orphanet:294996", source="Orphanet:294996/attributed", source="Orphanet:294996/ntbt"}
xref: Orphanet:294996 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017424 {source="MONDO:Redundant", source="Orphanet:294996"} ! non-syndromic brachydactyly
intersection_of: MONDO:0017424 ! non-syndromic brachydactyly
intersection_of: disease_has_location UBERON:0002398 ! manus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017452
name: non-syndromic brachydactyly of toes
def: "A non-syndromic brachydactyly that involves the pes." [MONDO:patterns/location]
subset: ordo_morphological_anomaly {source="Orphanet:294998"}
synonym: "non-syndromic brachydactyly of pes" EXACT [MONDO:design_pattern]
synonym: "pes non-syndromic brachydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "short toes" EXACT [Orphanet:294998]
xref: ICD10CM:Q72.8 {source="Orphanet:294998/attributed", source="Orphanet:294998/ntbt", source="Orphanet:294998"}
xref: ICD9:755.66 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:609304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:294998 {source="MONDO:equivalentObsolete"}
xref: SCTID:205346006 {source="MONDO:equivalentTo"}
xref: UMLS:C0432029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609304"}
is_a: MONDO:0017424 {source="MONDO:Redundant", source="Orphanet:294998"} ! non-syndromic brachydactyly
intersection_of: MONDO:0017424 ! non-syndromic brachydactyly
intersection_of: disease_has_location UBERON:0002387 ! pes

[Term]
id: MONDO:0017453
name: fetal parvovirus syndrome
def: "Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis." [Orphanet:295]
subset: gard_rare {source="GARD:4236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295"}
subset: ordo_malformation_syndrome {source="Orphanet:295"}
subset: orphanet_rare {source="Orphanet:295"}
subset: rare
synonym: "fifth disease" RELATED [GARD:0004236]
synonym: "Human parvovirus B19 caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human parvovirus B19 infectious embryofetopathy" EXACT []
synonym: "Maternofetal infection by parvovirus" RELATED [GARD:0004236]
synonym: "mother-to-child transmission of parvovirus syndrome" EXACT [Orphanet:295]
synonym: "Parvovirus antenatal infection" EXACT [Orphanet:295]
synonym: "Parvovirus B19 antenatal infection" RELATED [GARD:0004236]
xref: GARD:4236 {source="MONDO:GARD"}
xref: ICD10CM:P35.8 {source="Orphanet:295/ntbt", source="Orphanet:295"}
xref: icd11.foundation:648536096 {source="MONDO:equivalentTo", source="Orphanet:295", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:443992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536301 {source="MONDO:equivalentTo"}
xref: Orphanet:295 {source="MONDO:equivalentTo"}
xref: SCTID:715197005 {source="MONDO:equivalentTo"}
xref: UMLS:C2931167 {source="MEDGEN:443992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016511 {source="MONDO:Redundant", source="Orphanet:295"} ! infectious embryofetopathy
intersection_of: MONDO:0016511 ! infectious embryofetopathy
intersection_of: disease_has_infectious_agent NCBITaxon:10798 ! Human parvovirus B19

[Term]
id: MONDO:0017454
name: triphalangeal thumb-polysyndactyly syndrome
def: "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." [Orphanet:2950]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:2950"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TPT-PS syndrome" EXACT [Orphanet:2950]
xref: ICD10CM:Q74.8 {source="Orphanet:2950/attributed", source="Orphanet:2950/ntbt", source="Orphanet:2950"}
xref: MESH:C536563 {source="Orphanet:2950", source="Orphanet:2950/e"}
xref: OMIM:190605 {source="MONDO:equivalentTo"}
xref: Orphanet:2950 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019054 {source="Orphanet:2950"} ! congenital limb malformation
relationship: disease_has_major_feature MONDO:0008270 ! polydactyly of a triphalangeal thumb

[Term]
id: MONDO:0017455
name: hyperphalangy
def: "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies." [Orphanet:295002]
subset: gard_rare {source="GARD:21199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295002"}
subset: ordo_morphological_anomaly {source="Orphanet:295002"}
subset: orphanet_rare {source="Orphanet:295002"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "supernumerary phalanges" EXACT [Orphanet:295002]
synonym: "supernumerary phalanx" EXACT [Orphanet:295002]
xref: GARD:21199 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:295002", source="Orphanet:295002/attributed", source="Orphanet:295002/ntbt"}
xref: icd11.foundation:177215174 {source="MONDO:equivalentTo", source="Orphanet:295002"}
xref: MEDGEN:1639275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295002 {source="MONDO:equivalentTo"}
xref: SCTID:763535005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639275"}
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0017456
name: central polydactyly of fingers
subset: gard_rare {source="GARD:21200", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:295004"}
subset: ordo_morphological_anomaly {source="Orphanet:295004"}
subset: orphanet_rare {source="Orphanet:295004"}
subset: rare
synonym: "central polydactyly" RELATED [Orphanet:295004]
synonym: "central polydactyly of hand" EXACT [Orphanet:295004]
synonym: "mesoaxial polydactyly" EXACT [Orphanet:295004]
synonym: "mesoaxial polydactyly of fingers" EXACT [Orphanet:295004]
synonym: "mirror hand" EXACT [Orphanet:295004]
xref: GARD:21200 {source="MONDO:GARD"}
xref: ICD10CM:Q69.0 {source="Orphanet:295004", source="Orphanet:295004/attributed", source="Orphanet:295004/ntbt"}
xref: MEDGEN:609220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295004 {source="MONDO:equivalentTo"}
xref: SCTID:205130008 {source="MONDO:equivalentTo"}
xref: UMLS:C0431903 {source="MONDO:equivalentTo", source="MEDGEN:609220", source="MONDO:MEDGEN"}
is_a: MONDO:0011348 {source="Orphanet:295004", source="Orphanet:295004/inferred"} ! non-syndromic polydactyly

[Term]
id: MONDO:0017457
name: Preaxial polydactyly of toes
subset: gard_rare {source="GARD:12771", source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:295006"}
subset: rare
synonym: "bifid great toes" EXACT [Orphanet:295006]
synonym: "bifid halluces" EXACT [Orphanet:295006]
synonym: "bifid hallux" EXACT [Orphanet:295006]
synonym: "preaxial polydactyly of foot" EXACT [Orphanet:295006]
xref: GARD:12771 {source="MONDO:GARD"}
xref: ICD10CM:Q69.2 {source="Orphanet:295006/attributed", source="Orphanet:295006/ntbt", source="Orphanet:295006"}
xref: MEDGEN:609309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295006 {source="MONDO:equivalentObsolete"}
xref: SCTID:205132000 {source="MONDO:equivalentTo"}
xref: UMLS:C0432036 {source="MEDGEN:609309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011348 {source="Orphanet:295006"} ! non-syndromic polydactyly

[Term]
id: MONDO:0017458
name: obsolete postaxial polydactyly of toes
comment: Obsolete in Orphanet
synonym: "postaxial polydactyly of foot" EXACT [Orphanet:295008]
xref: ICD10CM:Q69.2 {source="Orphanet:295008/attributed", source="Orphanet:295008/ntbt", source="Orphanet:295008"}
xref: Orphanet:295008 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:205133005 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0011348

[Term]
id: MONDO:0017459
name: obsolete central polydactyly of toes
comment: Obsolete in Orphanet
synonym: "central polydactyly of foot" EXACT [Orphanet:295010]
synonym: "mesoaxial polydactyly of toes" EXACT [Orphanet:295010]
synonym: "mirror foot" EXACT [Orphanet:295010]
xref: ICD10CM:Q69.2 {source="Orphanet:295010", source="Orphanet:295010/attributed", source="Orphanet:295010/ntbt"}
xref: Orphanet:295010 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:253967005 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0011348

[Term]
id: MONDO:0017460
name: syndactyly type 6
def: "Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers." [Orphanet:295012]
subset: gard_rare {source="GARD:21201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295012"}
subset: ordo_morphological_anomaly {source="Orphanet:295012"}
subset: orphanet_rare {source="Orphanet:295012"}
subset: rare
synonym: "mitten hand" EXACT [Orphanet:295012]
synonym: "syndactyly, mitten type" EXACT [Orphanet:295012]
synonym: "unilateral syndactyly of digits 2-5" EXACT [Orphanet:295012]
xref: GARD:21201 {source="MONDO:GARD"}
xref: ICD10CM:Q70.1 {source="Orphanet:295012/attributed", source="Orphanet:295012/ntbt", source="Orphanet:295012"}
xref: MEDGEN:1635950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295012 {source="MONDO:equivalentTo"}
xref: SCTID:763624007 {source="MONDO:equivalentTo"}
xref: UMLS:C4706525 {source="MONDO:equivalentTo", source="MEDGEN:1635950", source="MONDO:MEDGEN"}
is_a: MONDO:0019530 {source="Orphanet:295012"} ! non-syndromic syndactyly

[Term]
id: MONDO:0017461
name: familial isolated clinodactyly of fingers
def: "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging." [Orphanet:295014]
subset: gard_rare {source="GARD:21202", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295014"}
subset: ordo_morphological_anomaly {source="Orphanet:295014"}
subset: orphanet_rare {source="Orphanet:295014"}
subset: rare
xref: GARD:21202 {source="MONDO:GARD"}
xref: ICD10CM:Q68.1 {source="Orphanet:295014", source="Orphanet:295014/attributed", source="Orphanet:295014/ntbt"}
xref: MEDGEN:120550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295014 {source="MONDO:equivalentTo"}
xref: SCTID:763691008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265610 {source="MONDO:equivalentTo", source="MEDGEN:120550", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017462
name: congenital pseudoarthrosis of the tibia
def: "A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1." [NCIT:C132080]
subset: gard_rare {source="GARD:21203", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295018"}
subset: rare
synonym: "congenital pseudarthrosis of the tibia" EXACT [Orphanet:295018]
synonym: "congenital pseudarthrosis of tibia" EXACT [NCIT:C132080]
xref: GARD:21203 {source="MONDO:GARD"}
xref: ICD10CM:Q74.2 {source="Orphanet:295018", source="Orphanet:295018/attributed", source="Orphanet:295018/ntbt"}
xref: MEDGEN:539398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C132080 {source="MONDO:equivalentTo"}
xref: Orphanet:295018 {source="MONDO:equivalentTo"}
xref: SCTID:55379003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539398"}
is_a: MONDO:0015525 {source="Orphanet:295018"} ! congenital pseudoarthrosis of the limbs
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017463
name: congenital pseudoarthrosis of the femur
subset: gard_rare {source="GARD:21204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295020"}
subset: rare
synonym: "congenital pseudarthrosis of the femur" EXACT [Orphanet:295020]
xref: GARD:21204 {source="MONDO:GARD"}
xref: ICD10CM:Q74.2 {source="Orphanet:295020/attributed", source="Orphanet:295020/ntbt", source="Orphanet:295020"}
xref: MEDGEN:1843312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295020 {source="MONDO:equivalentTo"}
xref: UMLS:C5679939 {source="MEDGEN:1843312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015525 {source="Orphanet:295020"} ! congenital pseudoarthrosis of the limbs
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017464
name: congenital pseudoarthrosis of the fibula
subset: gard_rare {source="GARD:21205", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295022"}
subset: rare
synonym: "congenital pseudarthrosis of the fibula" EXACT [Orphanet:295022]
xref: GARD:21205 {source="MONDO:GARD"}
xref: ICD10CM:Q74.2 {source="Orphanet:295022/attributed", source="Orphanet:295022/ntbt", source="Orphanet:295022"}
xref: MEDGEN:1842656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295022 {source="MONDO:equivalentTo"}
xref: UMLS:C5679935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842656"}
is_a: MONDO:0015525 {source="Orphanet:295022"} ! congenital pseudoarthrosis of the limbs
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017465
name: congenital pseudoarthrosis of the radius
subset: gard_rare {source="GARD:21206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295024"}
subset: rare
synonym: "congenital pseudarthrosis of the radius" EXACT [Orphanet:295024]
xref: GARD:21206 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295024", source="Orphanet:295024/attributed", source="Orphanet:295024/ntbt"}
xref: MEDGEN:1842721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295024 {source="MONDO:equivalentTo"}
xref: UMLS:C5679936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842721"}
is_a: MONDO:0015525 {source="Orphanet:295024"} ! congenital pseudoarthrosis of the limbs
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017466
name: congenital pseudoarthrosis of the ulna
subset: gard_rare {source="GARD:21207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295026"}
subset: rare
synonym: "congenital pseudarthrosis of the ulna" EXACT [Orphanet:295026]
xref: GARD:21207 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295026", source="Orphanet:295026/attributed", source="Orphanet:295026/ntbt"}
xref: MEDGEN:1843296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295026 {source="MONDO:equivalentTo"}
xref: UMLS:C5679937 {source="MEDGEN:1843296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015525 {source="Orphanet:295026"} ! congenital pseudoarthrosis of the limbs
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017467
name: tibio-fibular synostosis
def: "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." [Orphanet:295028]
subset: gard_rare {source="GARD:21208", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295028"}
subset: ordo_morphological_anomaly {source="Orphanet:295028"}
subset: orphanet_rare {source="Orphanet:295028"}
subset: rare
synonym: "Tibio-fibular fusion" EXACT [Orphanet:295028]
xref: GARD:21208 {source="MONDO:GARD"}
xref: ICD10CM:Q74.2 {source="Orphanet:295028/attributed", source="Orphanet:295028/ntbt", source="Orphanet:295028"}
xref: icd11.foundation:1756900121 {source="MONDO:equivalentTo", source="Orphanet:295028"}
xref: MEDGEN:1616659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295028 {source="MONDO:equivalentTo"}
xref: SCTID:737581000 {source="MONDO:equivalentTo"}
xref: UMLS:C4545230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616659"}
is_a: MONDO:0001411 {source="https://orcid.org/0009-0001-6494-4831"} ! synostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017468
name: congenital shoulder dislocation
subset: gard_rare {source="GARD:21209", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295030"}
subset: ordo_morphological_anomaly {source="Orphanet:295030"}
subset: orphanet_rare {source="Orphanet:295030"}
subset: rare
xref: GARD:21209 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:295030", source="Orphanet:295030/ntbt", source="Orphanet:295030/inclusion"}
xref: icd11.foundation:1926945459 {source="Orphanet:295030", source="MONDO:equivalentTo"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295030 {source="MONDO:equivalentTo"}
xref: SCTID:23876003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539331"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017469
name: congenital elbow dislocation
subset: gard_rare {source="GARD:21210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295032"}
subset: ordo_morphological_anomaly {source="Orphanet:295032"}
subset: orphanet_rare {source="Orphanet:295032"}
subset: rare
synonym: "congenital radial head dislocation" EXACT [Orphanet:295032]
synonym: "isolated congenital elbow dislocation" EXACT [Orphanet:295032]
synonym: "isolated congenital radial head dislocation" RELATED [Orphanet:295032]
xref: GARD:21210 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:295032/inclusion", source="Orphanet:295032", source="Orphanet:295032/ntbt"}
xref: icd11.foundation:1593186141 {source="Orphanet:295032", source="MONDO:equivalentTo"}
xref: MEDGEN:539330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295032 {source="MONDO:equivalentTo"}
xref: UMLS:C0265561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539330"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017470
name: congenital knee dislocation
subset: gard_rare {source="GARD:21211", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295034"}
subset: ordo_morphological_anomaly {source="Orphanet:295034"}
subset: orphanet_rare {source="Orphanet:295034"}
subset: rare
synonym: "congenital knee dislocation" EXACT [MONDO:ambiguous]
synonym: "congenital knee dislocation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:21211 {source="MONDO:GARD"}
xref: HP:0005191 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q68.2 {source="Orphanet:295034/ntbt", source="Orphanet:295034/inclusion", source="Orphanet:295034"}
xref: icd11.foundation:1229590493 {source="Orphanet:295034", source="MONDO:equivalentTo"}
xref: ICD9:754.41 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10010520 {source="Orphanet:295034", source="Orphanet:295034/e"}
xref: MEDGEN:75582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295034 {source="MONDO:equivalentTo"}
xref: SCTID:59068006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75582"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "congenital knee dislocation (disease)" xsd:string

[Term]
id: MONDO:0017471
name: congenital patella dislocation
subset: gard_rare {source="GARD:9692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295036"}
subset: ordo_morphological_anomaly {source="Orphanet:295036"}
subset: orphanet_rare {source="Orphanet:295036"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital dislocation of the patella" RELATED [GARD:0009692]
synonym: "congenital patellar dislocation" RELATED [GARD:0009692]
xref: GARD:9692 {source="MONDO:GARD"}
xref: ICD10CM:Q74.1 {source="Orphanet:295036/inclusion", source="Orphanet:295036", source="Orphanet:295036/ntbt"}
xref: icd11.foundation:1383302301 {source="MONDO:equivalentTo", source="Orphanet:295036"}
xref: MEDGEN:91041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538081 {source="MONDO:equivalentTo"}
xref: Orphanet:295036 {source="MONDO:equivalentTo"}
xref: SCTID:205067002 {source="MONDO:equivalentTo"}
xref: UMLS:C0345360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91041"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9692/congenital-dislocation-of-the-patella" xsd:anyURI {source="GARD:0009692"}

[Term]
id: MONDO:0017472
name: patella aplasia/hypoplasia, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q74.1 {source="Orphanet:295038", source="Orphanet:295038/attributed", source="Orphanet:295038/ntbt"}
xref: Orphanet:295038 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008205 {source="Orphanet:295038"} ! patella aplasia/hypoplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017473
name: patella aplasia/hypoplasia, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q74.1 {source="Orphanet:295041", source="Orphanet:295041/attributed", source="Orphanet:295041/ntbt"}
xref: Orphanet:295041 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008205 {source="Orphanet:295041"} ! patella aplasia/hypoplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017474
name: macrodactyly of fingers
subset: gard_rare {source="GARD:8529", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295044"}
subset: ordo_morphological_anomaly {source="Orphanet:295044"}
subset: orphanet_rare {source="Orphanet:295044"}
subset: rare
synonym: "macrodactyly of hand" EXACT [Orphanet:295044]
synonym: "macrodactyly of the hand" RELATED [GARD:0008529]
synonym: "megalodactylism of the hand" RELATED [GARD:0008529]
synonym: "Megalodactyly of the hand" RELATED [GARD:0008529]
xref: GARD:8529 {source="MONDO:GARD"}
xref: HP:0100746 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q74.0 {source="Orphanet:295044/attributed", source="Orphanet:295044/ntbt", source="Orphanet:295044"}
xref: icd11.foundation:1647254435 {source="Orphanet:295044", source="MONDO:equivalentTo"}
xref: MEDGEN:107892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537720 {source="MONDO:equivalentTo"}
xref: Orphanet:295044 {source="MONDO:equivalentTo"}
xref: SCTID:297195000 {source="MONDO:equivalentTo"}
xref: UMLS:C0574044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107892"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017475
name: macrodactyly of toes
subset: gard_rare {source="GARD:6951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295047"}
subset: ordo_morphological_anomaly {source="Orphanet:295047"}
subset: orphanet_rare {source="Orphanet:295047"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrodactyly of foot" EXACT [Orphanet:295047]
synonym: "macrodactyly of the foot" RELATED [GARD:0006951]
synonym: "megalodactylism of the foot" RELATED [GARD:0006951]
synonym: "Megalodactyly of the foot" RELATED [GARD:0006951]
xref: GARD:6951 {source="MONDO:GARD"}
xref: HP:0100747 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q74.2 {source="Orphanet:295047", source="Orphanet:295047/index", source="Orphanet:295047/ntbt"}
xref: icd11.foundation:1196147958 {source="MONDO:equivalentTo", source="Orphanet:295047"}
xref: MEDGEN:510644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537719 {source="MONDO:equivalentTo"}
xref: Orphanet:295047 {source="MONDO:equivalentTo"}
xref: UMLS:C0158768 {source="MEDGEN:510644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017476
name: upper limb hypertrophy
subset: gard_rare {source="GARD:21212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295049"}
subset: ordo_morphological_anomaly {source="Orphanet:295049"}
subset: orphanet_rare {source="Orphanet:295049"}
subset: rare
xref: GARD:21212 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295049", source="Orphanet:295049/attributed", source="Orphanet:295049/ntbt"}
xref: icd11.foundation:663591902 {source="MONDO:equivalentTo", source="Orphanet:295049"}
xref: MEDGEN:488921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295049 {source="MONDO:equivalentTo"}
xref: UMLS:C0575518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488921"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017477
name: lower limb hypertrophy
def: "Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia." [Orphanet:295051]
subset: gard_rare {source="GARD:21213", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:295051"}
subset: ordo_morphological_anomaly {source="Orphanet:295051"}
subset: orphanet_rare {source="Orphanet:295051"}
subset: rare
xref: GARD:21213 {source="MONDO:GARD"}
xref: ICD10CM:Q74.2 {source="Orphanet:295051", source="Orphanet:295051/attributed", source="Orphanet:295051/ntbt"}
xref: icd11.foundation:601080430 {source="Orphanet:295051", source="MONDO:equivalentTo"}
xref: Orphanet:295051 {source="MONDO:equivalentTo"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017478
name: amelia of upper limb, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q71.0 {source="Orphanet:295053/attributed", source="Orphanet:295053/ntbt", source="Orphanet:295053"}
xref: Orphanet:295053 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017437 {source="Orphanet:295053"} ! amelia of upper limb
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017479
name: amelia of upper limb, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q71.0 {source="Orphanet:295055/attributed", source="Orphanet:295055/ntbt", source="Orphanet:295055"}
xref: Orphanet:295055 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017437 {source="Orphanet:295055"} ! amelia of upper limb
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017480
name: amelia of lower limb, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q72.0 {source="Orphanet:295057", source="Orphanet:295057/attributed", source="Orphanet:295057/ntbt"}
xref: Orphanet:295057 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017438 {source="Orphanet:295057"} ! amelia of lower limb
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017481
name: amelia of lower limb, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:Q72.0 {source="Orphanet:295059", source="Orphanet:295059/attributed", source="Orphanet:295059/ntbt"}
xref: MEDGEN:1775586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295059 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2910294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1775586"}
is_a: MONDO:0017438 {source="Orphanet:295059"} ! amelia of lower limb

[Term]
id: MONDO:0017482
name: humeral agenesis/hypoplasia, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "humeral intercalary meromelia, unilateral" EXACT [Orphanet:295061]
xref: ICD10CM:Q71.8 {source="Orphanet:295061/attributed", source="Orphanet:295061/ntbt", source="Orphanet:295061"}
xref: Orphanet:295061 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017440 {source="Orphanet:295061"} ! humeral agenesis/hypoplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017483
name: humeral agenesis/hypoplasia, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "humeral intercalary meromelia, bilateral" EXACT [Orphanet:295063]
xref: ICD10CM:Q71.8 {source="Orphanet:295063", source="Orphanet:295063/attributed", source="Orphanet:295063/ntbt"}
xref: Orphanet:295063 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017440 {source="Orphanet:295063"} ! humeral agenesis/hypoplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017484
name: femoral agenesis/hypoplasia, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "femoral intercalary meromelia, unilateral" EXACT [Orphanet:295065]
xref: ICD10CM:Q72.4 {source="Orphanet:295065", source="Orphanet:295065/attributed", source="Orphanet:295065/ntbt"}
xref: Orphanet:295065 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0016032 {source="Orphanet:295065"} ! femoral agenesis/hypoplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017485
name: femoral agenesis/hypoplasia, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "femoral intercalary meromelia, bilateral" EXACT [Orphanet:295067]
xref: ICD10CM:Q72.4 {source="Orphanet:295067/attributed", source="Orphanet:295067/ntbt", source="Orphanet:295067"}
xref: Orphanet:295067 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0016032 {source="Orphanet:295067"} ! femoral agenesis/hypoplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017486
name: radial hemimelia, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "radial longitidinal meromelia, unilateral" EXACT [Orphanet:295069]
xref: ICD10CM:Q71.4 {source="Orphanet:295069", source="Orphanet:295069/attributed", source="Orphanet:295069/ntbt"}
xref: Orphanet:295069 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019671 {source="Orphanet:295069"} ! radial hemimelia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017487
name: radial hemimelia, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "radial longitidinal meromelia, bilateral" EXACT [Orphanet:295071]
xref: ICD10CM:Q71.4 {source="Orphanet:295071/attributed", source="Orphanet:295071/ntbt", source="Orphanet:295071"}
xref: Orphanet:295071 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019671 {source="Orphanet:295071"} ! radial hemimelia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017488
name: ulnar hemimelia, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "ulnar longitudinal meromelia, bilateral" EXACT [Orphanet:295073]
xref: ICD10CM:Q71.5 {source="Orphanet:295073", source="Orphanet:295073/attributed", source="Orphanet:295073/ntbt"}
xref: Orphanet:295073 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019670 {source="Orphanet:295073"} ! ulnar hemimelia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017489
name: ulnar hemimelia, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "ulnar longitudinal meromelia, unilateral" EXACT [Orphanet:295075]
xref: ICD10CM:Q71.5 {source="Orphanet:295075/attributed", source="Orphanet:295075/ntbt", source="Orphanet:295075"}
xref: Orphanet:295075 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019670 {source="Orphanet:295075"} ! ulnar hemimelia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017490
name: tibial hemimelia, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "tibial longitudinal meromelia, unilateral" EXACT [Orphanet:295077]
xref: ICD10CM:Q72.5 {source="Orphanet:295077/attributed", source="Orphanet:295077/ntbt", source="Orphanet:295077"}
xref: Orphanet:295077 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0010144 {source="Orphanet:295077"} ! tibial hemimelia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017491
name: tibial hemimelia, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tibial longitudinal meromelia, bilateral" EXACT [Orphanet:295079]
xref: ICD10CM:Q72.5 {source="Orphanet:295079", source="Orphanet:295079/attributed", source="Orphanet:295079/ntbt"}
xref: MEDGEN:1776601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295079 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5438440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1776601"}
is_a: MONDO:0010144 {source="Orphanet:295079"} ! tibial hemimelia

[Term]
id: MONDO:0017492
name: fibular hemimelia, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "fibular longitudinal meromelia, unilateral" EXACT [Orphanet:295081]
xref: ICD10CM:Q72.6 {source="Orphanet:295081/attributed", source="Orphanet:295081/ntbt", source="Orphanet:295081"}
xref: Orphanet:295081 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019672 {source="Orphanet:295081"} ! fibular hemimelia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017493
name: fibular hemimelia, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "fibular longitudinal meromelia, bilateral" EXACT [Orphanet:295083]
xref: ICD10CM:Q72.6 {source="Orphanet:295083/attributed", source="Orphanet:295083/ntbt", source="Orphanet:295083"}
xref: Orphanet:295083 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019672 {source="Orphanet:295083"} ! fibular hemimelia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017494
name: obsolete congenital absence of upper arm and forearm with hand present, unilateral
comment: Obsolete in Orphanet
synonym: "humero-radio-ulnar intercalary transverse meromelia, unilateral" EXACT [Orphanet:295085]
xref: ICD10CM:Q71.1 {source="Orphanet:295085", source="Orphanet:295085/attributed", source="Orphanet:295085/ntbt"}
xref: Orphanet:295085 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0017441

[Term]
id: MONDO:0017495
name: obsolete congenital absence of upper arm and forearm with hand present, bilateral
comment: Obsolete in Orphanet
synonym: "humero-radio-ulnar intercalary transverse meromelia, bilateral" EXACT [Orphanet:295087]
xref: ICD10CM:Q71.1 {source="Orphanet:295087", source="Orphanet:295087/attributed", source="Orphanet:295087/ntbt"}
xref: ICD10CM:Q71.13 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:295087 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0017441

[Term]
id: MONDO:0017496
name: congenital absence of thigh and lower leg with foot present, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "Femorotibiofibular intercalary transverse meromelia, unilateral" EXACT [Orphanet:295089]
xref: ICD10CM:Q72.1 {source="Orphanet:295089/attributed", source="Orphanet:295089/ntbt", source="Orphanet:295089"}
xref: Orphanet:295089 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017442 {source="Orphanet:295089"} ! congenital absence of thigh and lower leg with foot present
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017497
name: congenital absence of thigh and lower leg with foot present, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Femorotibiofibular intercalary transverse meromelia, bilateral" EXACT [Orphanet:295091]
xref: ICD10CM:Q72.1 {source="Orphanet:295091/attributed", source="Orphanet:295091/ntbt", source="Orphanet:295091"}
xref: ICD10CM:Q72.13 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295091 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2910297 {source="MEDGEN:1843495", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017442 {source="ICD10CM:Q72.13", source="Orphanet:295091"} ! congenital absence of thigh and lower leg with foot present
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017498
name: congenital absence of both forearm and hand, unilateral
def: "Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved." [Orphanet:295093]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "radio-ulnar terminal transverse meromelia, unilateral" EXACT [Orphanet:295093]
xref: ICD10CM:Q71.2 {source="Orphanet:295093/attributed", source="Orphanet:295093/ntbt", source="Orphanet:295093"}
xref: Orphanet:295093 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017443 {source="Orphanet:295093"} ! congenital absence of both forearm and hand
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017499
name: congenital absence of both forearm and hand, bilateral
def: "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand." [Orphanet:295095]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "radio-ulnar terminal transverse meromelia, bilateral" EXACT [Orphanet:295095]
xref: ICD10CM:Q71.2 {source="Orphanet:295095", source="Orphanet:295095/attributed", source="Orphanet:295095/ntbt"}
xref: ICD10CM:Q71.23 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295095 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2910270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843505"}
is_a: MONDO:0017443 {source="ICD10CM:Q71.23", source="Orphanet:295095"} ! congenital absence of both forearm and hand
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017500
name: congenital absence of both lower leg and foot, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "tibiofibular terminal transverse meromelia, unilateral" EXACT [Orphanet:295097]
xref: ICD10CM:Q72.2 {source="Orphanet:295097/attributed", source="Orphanet:295097/ntbt", source="Orphanet:295097"}
xref: Orphanet:295097 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017444 {source="Orphanet:295097"} ! congenital absence of both lower leg and foot
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017501
name: congenital absence of both lower leg and foot, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tibiofibular terminal transverse meromelia, bilateral" EXACT [Orphanet:295099]
xref: ICD10CM:Q72.2 {source="Orphanet:295099/attributed", source="Orphanet:295099/ntbt", source="Orphanet:295099"}
xref: ICD10CM:Q72.23 {source="MONDO:equivalentTo"}
xref: MEDGEN:1759560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295099 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2910300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1759560"}
is_a: MONDO:0017444 {source="ICD10CM:Q72.23", source="Orphanet:295099"} ! congenital absence of both lower leg and foot
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017502
name: acheiria, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "congenital absence of hand, unilateral" EXACT [Orphanet:295101]
xref: ICD10CM:Q71.3 {source="Orphanet:295101", source="Orphanet:295101/attributed", source="Orphanet:295101/ntbt"}
xref: Orphanet:295101 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017445 {source="Orphanet:295101"} ! acheiria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017503
name: acheiria, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital absence of hand, bilateral" EXACT [Orphanet:295103]
xref: ICD10CM:Q71.3 {source="Orphanet:295103", source="Orphanet:295103/attributed", source="Orphanet:295103/ntbt"}
xref: MEDGEN:672347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295103 {source="MONDO:equivalentObsolete"}
xref: SCTID:371189003 {source="MONDO:equivalentTo"}
xref: UMLS:C0685394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:672347"}
is_a: MONDO:0017445 {source="Orphanet:295103"} ! acheiria

[Term]
id: MONDO:0017504
name: apodia, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "congenital absence of foot, unilateral" EXACT [Orphanet:295105]
xref: ICD10CM:Q72.3 {source="Orphanet:295105/attributed", source="Orphanet:295105/ntbt", source="Orphanet:295105"}
xref: Orphanet:295105 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017446 {source="Orphanet:295105"} ! apodia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017505
name: apodia, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital absence of foot, bilateral" EXACT [Orphanet:295107]
xref: ICD10CM:Q72.3 {source="Orphanet:295107/attributed", source="Orphanet:295107/ntbt", source="Orphanet:295107"}
xref: MEDGEN:672391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295107 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0685440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:672391"}
is_a: MONDO:0017446 {source="Orphanet:295107"} ! apodia

[Term]
id: MONDO:0017506
name: obsolete congenital absence/hypoplasia of thumb, unilateral
def: "OBSOLETE. Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb." [Orphanet:295110]
synonym: "thumb hypodactyly, unilateral" EXACT [Orphanet:295110]
synonym: "thumb oligodactyly, unilateral" EXACT [Orphanet:295110]
xref: ICD10CM:Q71.3 {source="Orphanet:295110/attributed", source="Orphanet:295110/ntbt", source="Orphanet:295110"}
xref: Orphanet:295110 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6472" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017507
name: obsolete congenital absence/hypoplasia of thumb, bilateral
def: "OBSOLETE. Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias." [Orphanet:295112]
synonym: "thumb hypodactyly, bilateral" EXACT [Orphanet:295112]
synonym: "thumb oligodactyly, bilateral" EXACT [Orphanet:295112]
xref: ICD10CM:Q71.3 {source="Orphanet:295112", source="Orphanet:295112/attributed", source="Orphanet:295112/ntbt"}
xref: Orphanet:295112 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6472" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017508
name: obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral
synonym: "Adactyly of hand, bilateral" EXACT [Orphanet:295114]
synonym: "digits 2-5 hypodactyly, bilateral" EXACT [Orphanet:295114]
synonym: "digits 2-5 oligodactyly, bilateral" EXACT [Orphanet:295114]
xref: ICD10CM:Q71.3 {source="Orphanet:295114", source="Orphanet:295114/attributed", source="Orphanet:295114/ntbt"}
xref: Orphanet:295114 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6471" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017509
name: adactyly of foot, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "congenital absence of toes, unilateral" EXACT [Orphanet:295116]
xref: ICD10CM:Q72.8 {source="Orphanet:295116/attributed", source="Orphanet:295116/ntbt", source="Orphanet:295116"}
xref: Orphanet:295116 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0018563 {source="Orphanet:295116"} ! adactyly of foot
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017510
name: adactyly of foot, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital absence of toes, bilateral" EXACT [Orphanet:295118]
xref: ICD10CM:Q72.8 {source="Orphanet:295118/attributed", source="Orphanet:295118/ntbt", source="Orphanet:295118"}
xref: MEDGEN:1718340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295118 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5395377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718340"}
is_a: MONDO:0018563 {source="Orphanet:295118"} ! adactyly of foot

[Term]
id: MONDO:0017511
name: split hand, unilateral
def: "Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." [Orphanet:295120]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q71.6 {source="Orphanet:295120", source="Orphanet:295120/attributed", source="Orphanet:295120/ntbt"}
xref: Orphanet:295120 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017449 {source="Orphanet:295120"} ! split hand
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017512
name: split hand, bilateral
def: "Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." [Orphanet:295122]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: ICD10CM:Q71.6 {source="Orphanet:295122/attributed", source="Orphanet:295122/ntbt", source="Orphanet:295122"}
xref: MEDGEN:1752875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295122 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5438934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1752875"}
is_a: MONDO:0017449 {source="Orphanet:295122"} ! split hand

[Term]
id: MONDO:0017513
name: split foot, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q72.7 {source="Orphanet:295124", source="Orphanet:295124/attributed", source="Orphanet:295124/ntbt"}
xref: Orphanet:295124 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017450 {source="Orphanet:295124"} ! split foot
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017514
name: split foot, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:Q72.7 {source="Orphanet:295126", source="Orphanet:295126/attributed", source="Orphanet:295126/ntbt"}
xref: ICD10CM:Q72.73 {source="MONDO:equivalentTo"}
xref: MEDGEN:1757565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295126 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2910315 {source="MEDGEN:1757565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017450 {source="Orphanet:295126"} ! split foot

[Term]
id: MONDO:0017515
name: brachydactyly of fingers, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "short fingers, unilateral" EXACT [Orphanet:295128]
xref: ICD10CM:Q71.8 {source="Orphanet:295128", source="Orphanet:295128/attributed", source="Orphanet:295128/ntbt"}
xref: Orphanet:295128 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017451 {source="Orphanet:295128"} ! non-syndromic brachydactyly of fingers
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017516
name: brachydactyly of fingers, bilateral
synonym: "short fingers, bilateral" EXACT [Orphanet:295130]
xref: ICD10CM:Q71.8 {source="Orphanet:295130/attributed", source="Orphanet:295130/ntbt", source="Orphanet:295130"}
xref: MEDGEN:1665318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295130 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4751023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1665318"}
is_a: MONDO:0017451 {source="Orphanet:295130"} ! non-syndromic brachydactyly of fingers

[Term]
id: MONDO:0017517
name: brachydactyly of toes, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "short toes, unilateral" EXACT [Orphanet:295132]
xref: ICD10CM:Q72.8 {source="Orphanet:295132/attributed", source="Orphanet:295132/ntbt", source="Orphanet:295132"}
xref: Orphanet:295132 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017452 {source="Orphanet:295132"} ! non-syndromic brachydactyly of toes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017518
name: brachydactyly of toes, bilateral
synonym: "short toes, bilateral" EXACT [Orphanet:295134]
xref: ICD10CM:Q72.8 {source="Orphanet:295134", source="Orphanet:295134/attributed", source="Orphanet:295134/ntbt"}
xref: MEDGEN:1702894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295134 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5229808 {source="MEDGEN:1702894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017452 {source="Orphanet:295134"} ! non-syndromic brachydactyly of toes

[Term]
id: MONDO:0017519
name: symbrachydactyly of hand and foot, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q73.8 {source="Orphanet:295136", source="Orphanet:295136/attributed", source="Orphanet:295136/ntbt"}
xref: Orphanet:295136 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0015516 {source="Orphanet:295136"} ! symbrachydactyly of hands and feet
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017520
name: symbrachydactyly of hand and foot, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: ICD10CM:Q73.8 {source="Orphanet:295138/attributed", source="Orphanet:295138/ntbt", source="Orphanet:295138"}
xref: MEDGEN:754111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295138 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2919807 {source="MEDGEN:754111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015516 {source="Orphanet:295138"} ! symbrachydactyly of hands and feet

[Term]
id: MONDO:0017521
name: hyperphalangy, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "hyperphalangy in digits 2-5" EXACT [Orphanet:295140]
synonym: "supernumerary phalanges, unilateral" EXACT [Orphanet:295140]
synonym: "supernumerary phalanx, unilateral" EXACT [Orphanet:295140]
xref: ICD10CM:Q74.8 {source="Orphanet:295140", source="Orphanet:295140/attributed", source="Orphanet:295140/ntbt"}
xref: Orphanet:295140 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017455 {source="Orphanet:295140"} ! hyperphalangy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017522
name: hyperphalangy, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "supernumerary phalanges, bilateral" EXACT [Orphanet:295142]
synonym: "supernumerary phalanx, bilateral" EXACT [Orphanet:295142]
xref: ICD10CM:Q74.8 {source="Orphanet:295142", source="Orphanet:295142/attributed", source="Orphanet:295142/ntbt"}
xref: Orphanet:295142 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017455 {source="Orphanet:295142"} ! hyperphalangy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017523
name: polydactyly of a biphalangeal thumb, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "preaxial polydactyly type 1, unilateral" EXACT [Orphanet:295144]
xref: ICD10CM:Q69.1 {source="Orphanet:295144/attributed", source="Orphanet:295144/ntbt", source="Orphanet:295144"}
xref: Orphanet:295144 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008269 {source="Orphanet:295144"} ! polydactyly of a biphalangeal thumb
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017524
name: polydactyly of a biphalangeal thumb, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "preaxial polydactyly type 1, bilateral" EXACT [Orphanet:295146]
xref: ICD10CM:Q69.1 {source="Orphanet:295146", source="Orphanet:295146/attributed", source="Orphanet:295146/ntbt"}
xref: Orphanet:295146 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008269 {source="Orphanet:295146"} ! polydactyly of a biphalangeal thumb
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017525
name: polydactyly of a triphalangeal thumb, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "preaxial polydactyly type 2, unilateral" EXACT [Orphanet:295148]
synonym: "unilateral PPD2" EXACT [Orphanet:295148]
xref: ICD10CM:Q69.1 {source="Orphanet:295148", source="Orphanet:295148/attributed", source="Orphanet:295148/ntbt"}
xref: Orphanet:295148 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008270 {source="Orphanet:295148"} ! polydactyly of a triphalangeal thumb
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017526
name: polydactyly of a triphalangeal thumb, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "bilateral PPD2" EXACT [Orphanet:295150]
synonym: "preaxial polydactyly type 2, bilateral" EXACT [Orphanet:295150]
xref: ICD10CM:Q69.1 {source="Orphanet:295150", source="Orphanet:295150/attributed", source="Orphanet:295150/ntbt"}
xref: Orphanet:295150 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008270 {source="Orphanet:295150"} ! polydactyly of a triphalangeal thumb
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017527
name: polydactyly of an index finger, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "preaxial polydactyly type 3, unilateral" EXACT [Orphanet:295152]
xref: ICD10CM:Q69.0 {source="Orphanet:295152/attributed", source="Orphanet:295152/ntbt", source="Orphanet:295152"}
xref: Orphanet:295152 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008271 {source="Orphanet:295152"} ! polydactyly of an index finger
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017528
name: polydactyly of an index finger, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "preaxial polydactyly type 3, bilateral" EXACT [Orphanet:295154]
xref: ICD10CM:Q69.0 {source="Orphanet:295154/attributed", source="Orphanet:295154/ntbt", source="Orphanet:295154"}
xref: MEDGEN:1727346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295154 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5438861 {source="MEDGEN:1727346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008271 {source="Orphanet:295154"} ! polydactyly of an index finger

[Term]
id: MONDO:0017529
name: polysyndactyly, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "preaxial polydactyly type 4, unilateral" EXACT [Orphanet:295159]
xref: ICD10CM:Q70.4 {source="Orphanet:295159", source="Orphanet:295159/attributed", source="Orphanet:295159/ntbt"}
xref: Orphanet:295159 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008272 {source="Orphanet:295159"} ! polysyndactyly 4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017530
name: polysyndactyly, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "preaxial polydactyly type 4, bilateral" EXACT [Orphanet:295161]
xref: ICD10CM:Q70.4 {source="Orphanet:295161", source="Orphanet:295161/attributed", source="Orphanet:295161/ntbt"}
xref: Orphanet:295161 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0008272 {source="Orphanet:295161"} ! polysyndactyly 4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017531
name: postaxial polydactyly type A, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q69.0 {source="Orphanet:295163/attributed", source="Orphanet:295163/ntbt", source="Orphanet:295163"}
xref: Orphanet:295163 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019673 {source="Orphanet:295163"} ! postaxial polydactyly type A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017532
name: postaxial polydactyly type A, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q69.0 {source="Orphanet:295165/attributed", source="Orphanet:295165/ntbt", source="Orphanet:295165"}
xref: Orphanet:295165 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019673 {source="Orphanet:295165"} ! postaxial polydactyly type A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017533
name: postaxial polydactyly type B, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q69.0 {source="Orphanet:295167", source="Orphanet:295167/attributed", source="Orphanet:295167/ntbt"}
xref: Orphanet:295167 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019674 {source="Orphanet:295167"} ! postaxial polydactyly type B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017534
name: postaxial polydactyly type B, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q69.0 {source="Orphanet:295169", source="Orphanet:295169/attributed", source="Orphanet:295169/ntbt"}
xref: Orphanet:295169 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019674 {source="Orphanet:295169"} ! postaxial polydactyly type B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017535
name: central polydactyly of fingers, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "mesoaxial polydactyly of fingers, unilateral" EXACT [Orphanet:295171]
synonym: "mirror hand, unilateral" EXACT [Orphanet:295171]
xref: ICD10CM:Q69.0 {source="Orphanet:295171/attributed", source="Orphanet:295171/ntbt", source="Orphanet:295171"}
xref: Orphanet:295171 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017456 {source="Orphanet:295171"} ! central polydactyly of fingers
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017536
name: central polydactyly of fingers, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mesoaxial polydactyly of fingers, bilateral" EXACT [Orphanet:295173]
synonym: "mirror hand, bilateral" EXACT [Orphanet:295173]
xref: ICD10CM:Q69.0 {source="Orphanet:295173", source="Orphanet:295173/attributed", source="Orphanet:295173/ntbt"}
xref: MEDGEN:1747972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295173 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5437814 {source="MEDGEN:1747972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017456 {source="Orphanet:295173"} ! central polydactyly of fingers

[Term]
id: MONDO:0017537
name: Preaxial polydactyly of toes, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "bifid great toes, unilateral" EXACT [Orphanet:295175]
synonym: "bifid halluces, unilateral" EXACT [Orphanet:295175]
synonym: "bifid hallux, unilateral" EXACT [Orphanet:295175]
xref: ICD10CM:Q69.2 {source="Orphanet:295175", source="Orphanet:295175/attributed", source="Orphanet:295175/ntbt"}
xref: Orphanet:295175 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017457 {source="Orphanet:295175"} ! Preaxial polydactyly of toes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017538
name: Preaxial polydactyly of toes, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bifid great toes, bilateral" EXACT [Orphanet:295177]
synonym: "bifid halluces, bilateral" EXACT [Orphanet:295177]
synonym: "bifid hallux, bilateral" EXACT [Orphanet:295177]
xref: ICD10CM:Q69.2 {source="Orphanet:295177/attributed", source="Orphanet:295177/ntbt", source="Orphanet:295177"}
xref: MEDGEN:1741594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295177 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5437916 {source="MONDO:equivalentTo", source="MEDGEN:1741594", source="MONDO:MEDGEN"}
is_a: MONDO:0017457 {source="Orphanet:295177"} ! Preaxial polydactyly of toes

[Term]
id: MONDO:0017539
name: obsolete postaxial polydactyly of toes, unilateral
comment: Obsolete in Orphanet
xref: ICD10CM:Q69.2 {source="Orphanet:295179", source="Orphanet:295179/attributed", source="Orphanet:295179/ntbt"}
xref: Orphanet:295179 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0011348

[Term]
id: MONDO:0017540
name: obsolete postaxial polydactyly of toes, bilateral
comment: Obsolete in Orphanet
xref: ICD10CM:Q69.2 {source="Orphanet:295181/attributed", source="Orphanet:295181/ntbt", source="Orphanet:295181"}
xref: Orphanet:295181 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0011348

[Term]
id: MONDO:0017541
name: obsolete central polydactyly of toes, unilateral
comment: Obsolete in Orphanet
synonym: "mesoaxial polydactyly of toes, unilateral" EXACT [Orphanet:295183]
synonym: "mirror foot, unilateral" EXACT [Orphanet:295183]
xref: ICD10CM:Q69.2 {source="Orphanet:295183", source="Orphanet:295183/attributed", source="Orphanet:295183/ntbt"}
xref: Orphanet:295183 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0011348

[Term]
id: MONDO:0017542
name: obsolete central polydactyly of toes, bilateral
comment: Obsolete in Orphanet
synonym: "mesoaxial polydactyly of toes, bilateral" EXACT [Orphanet:295185]
synonym: "mirror foot, bilateral" EXACT [Orphanet:295185]
xref: ICD10CM:Q69.2 {source="Orphanet:295185/attributed", source="Orphanet:295185/ntbt", source="Orphanet:295185"}
xref: Orphanet:295185 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0011348

[Term]
id: MONDO:0017543
name: zygodactyly type 2
subset: gard_rare {source="GARD:21214", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295189"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SD1, Lueken type" EXACT [Orphanet:295189]
synonym: "SD1b" EXACT [Orphanet:295189]
synonym: "syndactyly type 1, Lueken type" EXACT [Orphanet:295189]
synonym: "syndactyly type 1b" EXACT [Orphanet:295189]
synonym: "Zygodactyly, Lueken type" EXACT [Orphanet:295189]
xref: GARD:21214 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"}
xref: ICD10CM:Q70.1 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"}
xref: ICD10CM:Q70.2 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"}
xref: ICD10CM:Q70.3 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"}
xref: MEDGEN:1842290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295189 {source="MONDO:equivalentTo"}
xref: UMLS:C5679982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842290"}
is_a: MONDO:0008512 {source="Orphanet:295189"} ! syndactyly type 1
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0017544
name: zygodactyly type 3
subset: gard_rare {source="GARD:21215", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295191"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SD1, Montagu type" EXACT [Orphanet:295191]
synonym: "SD1c" EXACT [Orphanet:295191]
synonym: "syndactyly type 1, Montagu type" EXACT [Orphanet:295191]
synonym: "syndactyly type 1c" EXACT [Orphanet:295191]
synonym: "Zygodactyly, Montagu type" EXACT [Orphanet:295191]
xref: GARD:21215 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"}
xref: ICD10CM:Q70.1 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"}
xref: ICD10CM:Q70.2 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"}
xref: ICD10CM:Q70.3 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"}
xref: MEDGEN:1843229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295191 {source="MONDO:equivalentTo"}
xref: UMLS:C5679983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843229"}
is_a: MONDO:0008512 {source="Orphanet:295191"} ! syndactyly type 1

[Term]
id: MONDO:0017545
name: zygodactyly type 4
subset: gard_rare {source="GARD:21216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295193"}
subset: rare
synonym: "SD1, Castilla type" EXACT [Orphanet:295193]
synonym: "SD1d" EXACT [Orphanet:295193]
synonym: "syndactyly type 1, Castilla type" EXACT [Orphanet:295193]
synonym: "syndactyly type 1d" EXACT [Orphanet:295193]
synonym: "Zygodactyly, Castilla type" EXACT [Orphanet:295193]
xref: GARD:21216 {source="MONDO:GARD"}
xref: ICD10CM:Q70.3 {source="Orphanet:295193/attributed", source="Orphanet:295193/ntbt", source="Orphanet:295193"}
xref: MEDGEN:1843119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295193 {source="MONDO:equivalentTo"}
xref: UMLS:C5679981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843119"}
is_a: MONDO:0008512 {source="Orphanet:295193"} ! syndactyly type 1

[Term]
id: MONDO:0017546
name: congenital vertical talus, unilateral
subset: gard_rare {source="GARD:21217", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295201"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21217 {source="MONDO:GARD"}
xref: ICD10CM:Q66.8 {source="Orphanet:295201", source="Orphanet:295201/attributed", source="Orphanet:295201/ntbt"}
xref: MEDGEN:1842526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295201 {source="MONDO:equivalentTo"}
xref: UMLS:C5681089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842526"}
is_a: MONDO:0008652 {source="Orphanet:295201"} ! congenital vertical talus

[Term]
id: MONDO:0017547
name: congenital vertical talus, bilateral
subset: gard_rare {source="GARD:21218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295203"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21218 {source="MONDO:GARD"}
xref: ICD10CM:Q66.8 {source="Orphanet:295203", source="Orphanet:295203/attributed", source="Orphanet:295203/ntbt"}
xref: MEDGEN:349821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295203 {source="MONDO:equivalentTo"}
xref: UMLS:C1860446 {source="MEDGEN:349821", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008652 {source="Orphanet:295203"} ! congenital vertical talus

[Term]
id: MONDO:0017548
name: humero-radio-ulnar synostosis, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "humero-radio-ulnar fusion, unilateral" EXACT [Orphanet:295205]
xref: ICD10CM:Q74.0 {source="Orphanet:295205", source="Orphanet:295205/attributed", source="Orphanet:295205/ntbt"}
xref: Orphanet:295205 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017983 {source="Orphanet:295205"} ! humero-radio-ulnar synostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017549
name: humero-radio-ulnar synostosis, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "humero-radio-ulnar fusion, bilateral" EXACT [Orphanet:295207]
xref: ICD10CM:Q74.0 {source="Orphanet:295207/attributed", source="Orphanet:295207/ntbt", source="Orphanet:295207"}
xref: MEDGEN:1744773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295207 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5438978 {source="MONDO:equivalentTo", source="MEDGEN:1744773", source="MONDO:MEDGEN"}
is_a: MONDO:0017983 {source="Orphanet:295207"} ! humero-radio-ulnar synostosis

[Term]
id: MONDO:0017550
name: humero-radial synostosis, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "humero-radial fusion, unilateral" EXACT [Orphanet:295209]
xref: ICD10CM:Q74.0 {source="Orphanet:295209/attributed", source="Orphanet:295209/ntbt", source="Orphanet:295209"}
xref: Orphanet:295209 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0007737 {source="Orphanet:295209"} ! humeroradial synostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017551
name: humero-radial synostosis, bilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "humero-radial fusion, bilateral" EXACT [Orphanet:295211]
xref: ICD10CM:Q74.0 {source="Orphanet:295211", source="Orphanet:295211/attributed", source="Orphanet:295211/ntbt"}
xref: Orphanet:295211 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0007737 {source="Orphanet:295211"} ! humeroradial synostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017552
name: humero-ulnar synostosis, unilateral
subset: gard_rare {source="GARD:21219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "humero-ulnar fusion, unilateral" EXACT [Orphanet:295213]
xref: GARD:21219 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295213", source="Orphanet:295213/attributed", source="Orphanet:295213/ntbt"}
xref: MEDGEN:1842707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295213 {source="MONDO:equivalentTo"}
xref: UMLS:C5679986 {source="MEDGEN:1842707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019782 {source="Orphanet:295213"} ! humero-ulnar synostosis

[Term]
id: MONDO:0017553
name: humero-ulnar synostosis, bilateral
subset: gard_rare {source="GARD:21220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "humero-ulnar fusion, bilateral" EXACT [Orphanet:295215]
xref: GARD:21220 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295215/attributed", source="Orphanet:295215/ntbt", source="Orphanet:295215"}
xref: MEDGEN:1776945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295215 {source="MONDO:equivalentTo"}
xref: UMLS:C5438980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1776945"}
is_a: MONDO:0019782 {source="Orphanet:295215"} ! humero-ulnar synostosis

[Term]
id: MONDO:0017554
name: radio-ulnar synostosis, unilateral
subset: gard_rare {source="GARD:21221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "radio-ulnar fusion, unilateral" EXACT [Orphanet:295217]
xref: GARD:21221 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295217/attributed", source="Orphanet:295217/ntbt", source="Orphanet:295217"}
xref: MEDGEN:1842614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295217 {source="MONDO:equivalentTo"}
xref: UMLS:C5679984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842614"}
is_a: MONDO:0017985 {source="Orphanet:295217"} ! congenital radioulnar synostosis

[Term]
id: MONDO:0017555
name: radio-ulnar synostosis, bilateral
subset: gard_rare {source="GARD:21222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "radio-ulnar fusion, bilateral" EXACT [Orphanet:295219]
xref: GARD:21222 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295219/attributed", source="Orphanet:295219/ntbt", source="Orphanet:295219"}
xref: MEDGEN:1842685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295219 {source="MONDO:equivalentTo"}
xref: UMLS:C5679985 {source="MEDGEN:1842685", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017985 {source="Orphanet:295219"} ! congenital radioulnar synostosis

[Term]
id: MONDO:0017556
name: Madelung deformity, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q74.0 {source="Orphanet:295221/attributed", source="Orphanet:295221/ntbt", source="Orphanet:295221"}
xref: Orphanet:295221 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0018154 {source="Orphanet:295221"} ! Madelung deformity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017557
name: Madelung deformity, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:Q74.0 {source="Orphanet:295223", source="Orphanet:295223/attributed", source="Orphanet:295223/ntbt"}
xref: MEDGEN:1723370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295223 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5437754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1723370"}
is_a: MONDO:0018154 {source="Orphanet:295223"} ! Madelung deformity

[Term]
id: MONDO:0017558
name: congenital elbow dislocation, unilateral
subset: gard_rare {source="GARD:21223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295225"}
subset: rare
xref: GARD:21223 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:295225", source="Orphanet:295225/attributed", source="Orphanet:295225/ntbt"}
xref: MEDGEN:1842743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295225 {source="MONDO:equivalentTo"}
xref: UMLS:C5681091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842743"}
is_a: MONDO:0017469 {source="Orphanet:295225"} ! congenital elbow dislocation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017559
name: congenital elbow dislocation, bilateral
subset: gard_rare {source="GARD:21224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295227"}
subset: rare
xref: GARD:21224 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:295227", source="Orphanet:295227/attributed", source="Orphanet:295227/ntbt"}
xref: MEDGEN:1757455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295227 {source="MONDO:equivalentTo"}
xref: UMLS:C5437776 {source="MEDGEN:1757455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017469 {source="Orphanet:295227"} ! congenital elbow dislocation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017560
name: congenital genu recurvatum
def: "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint." [NCIT:C103184]
subset: gard_rare {source="GARD:21225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295229"}
subset: rare
synonym: "genu recurvatum" EXACT [NCIT:C103184]
synonym: "hyperextension deformity of knee" EXACT [NCIT:C103184]
synonym: "hyperextension of knee deformity" EXACT [NCIT:C103184]
xref: GARD:21225 {source="MONDO:GARD"}
xref: ICD10CM:Q68.2 {source="Orphanet:295229/ntbt", source="Orphanet:295229/inclusion", source="Orphanet:295229"}
xref: icd11.foundation:1709221347 {source="MONDO:equivalentTo", source="Orphanet:295229"}
xref: ICD9:754.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C103184 {source="MONDO:equivalentTo"}
xref: Orphanet:295229 {source="MONDO:equivalentTo"}
xref: SCTID:205063003 {source="MONDO:equivalentTo"}
xref: UMLS:C0152235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508941"}
is_a: MONDO:0017470 {source="Orphanet:295229"} ! congenital knee dislocation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017561
name: congenital genu flexum
subset: gard_rare {source="GARD:21226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295232"}
subset: rare
xref: GARD:21226 {source="MONDO:GARD"}
xref: ICD10CM:Q68.2 {source="Orphanet:295232/attributed", source="Orphanet:295232/ntbt", source="Orphanet:295232"}
xref: icd11.foundation:830907514 {source="Orphanet:295232", source="MONDO:equivalentTo"}
xref: MEDGEN:1842651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295232 {source="MONDO:equivalentTo"}
xref: UMLS:C5681090 {source="MONDO:equivalentTo", source="MEDGEN:1842651", source="MONDO:MEDGEN"}
is_a: MONDO:0017470 {source="Orphanet:295232"} ! congenital knee dislocation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017562
name: congenital patella dislocation, unilateral
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q74.1 {source="Orphanet:295234", source="Orphanet:295234/attributed", source="Orphanet:295234/ntbt"}
xref: Orphanet:295234 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0017471 {source="Orphanet:295234"} ! congenital patella dislocation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017563
name: congenital patella dislocation, bilateral
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:Q74.1 {source="Orphanet:295237/attributed", source="Orphanet:295237/ntbt", source="Orphanet:295237"}
xref: MEDGEN:1741152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295237 {source="MONDO:equivalentObsolete"}
xref: UMLS:C5437898 {source="MEDGEN:1741152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017471 {source="Orphanet:295237"} ! congenital patella dislocation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017564
name: macrodactyly of fingers, unilateral
subset: gard_rare {source="GARD:21227", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295239"}
subset: rare
synonym: "macrodactyly of hand, unilateral" EXACT [Orphanet:295239]
xref: GARD:21227 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295239/attributed", source="Orphanet:295239/ntbt", source="Orphanet:295239"}
xref: MEDGEN:1843434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295239 {source="MONDO:equivalentTo"}
xref: UMLS:C5679987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843434"}
is_a: MONDO:0017474 {source="Orphanet:295239"} ! macrodactyly of fingers

[Term]
id: MONDO:0017565
name: macrodactyly of fingers, bilateral
subset: gard_rare {source="GARD:21228", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295241"}
subset: rare
synonym: "macrodactyly of hand, bilateral" EXACT [Orphanet:295241]
xref: GARD:21228 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:295241", source="Orphanet:295241/attributed", source="Orphanet:295241/ntbt"}
xref: MEDGEN:1730289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295241 {source="MONDO:equivalentTo"}
xref: UMLS:C5437813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1730289"}
is_a: MONDO:0017474 {source="Orphanet:295241"} ! macrodactyly of fingers

[Term]
id: MONDO:0017566
name: macrodactyly of toes, unilateral
subset: gard_rare {source="GARD:21229", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295243"}
subset: rare
synonym: "macrodactyly of foot, unilateral" EXACT [Orphanet:295243]
xref: GARD:21229 {source="MONDO:GARD"}
xref: ICD10CM:Q74.2 {source="Orphanet:295243/attributed", source="Orphanet:295243/ntbt", source="Orphanet:295243"}
xref: MEDGEN:1843435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295243 {source="MONDO:equivalentTo"}
xref: UMLS:C5679988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843435"}
is_a: MONDO:0017475 {source="Orphanet:295243"} ! macrodactyly of toes

[Term]
id: MONDO:0017567
name: macrodactyly of toes, bilateral
subset: gard_rare {source="GARD:21230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:295245"}
subset: rare
synonym: "macrodactyly of foot, bilateral" EXACT [Orphanet:295245]
xref: GARD:21230 {source="MONDO:GARD"}
xref: ICD10CM:Q74.2 {source="Orphanet:295245", source="Orphanet:295245/attributed", source="Orphanet:295245/ntbt"}
xref: MEDGEN:1740751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:295245 {source="MONDO:equivalentTo"}
xref: UMLS:C5437810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1740751"}
is_a: MONDO:0017475 {source="Orphanet:295245"} ! macrodactyly of toes

[Term]
id: MONDO:0017568
name: Prata-Liberal-Goncalves syndrome
def: "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984." [Orphanet:2956]
subset: gard_rare {source="GARD:491", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2956"}
subset: ordo_malformation_syndrome {source="Orphanet:2956"}
subset: orphanet_rare {source="Orphanet:2956"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrodysplasia scoliosis" EXACT [Orphanet:2956]
synonym: "brachydactyly-scoliosis-carpal fusion syndrome" EXACT [Orphanet:2956]
xref: GARD:491 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2956/attributed", source="Orphanet:2956/ntbt", source="Orphanet:2956"}
xref: MEDGEN:419156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538180 {source="Orphanet:2956/e", source="Orphanet:2956"}
xref: MESH:C538277 {source="Orphanet:2956/e", source="Orphanet:2956"}
xref: Orphanet:2956 {source="MONDO:equivalentTo"}
xref: UMLS:C2931761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419156"}
is_a: MONDO:0018234 {source="Orphanet:2956", source="Orphanet:2956/inferred"} ! dysostosis

[Term]
id: MONDO:0017569
name: de Barsy syndrome
def: "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." [Orphanet:2962]
subset: gard_rare {source="GARD:49", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1034"}
subset: ordo_disorder {source="Orphanet:2962"}
subset: orphanet_rare {source="Orphanet:2962"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cutis laxa type III" RELATED [DOID:0070143]
synonym: "corneal clouding, cutis laxa and intellectual disability" RELATED [GARD:0000049]
synonym: "corneal clouding, cutis laxa and mental retardation" RELATED DEPRECATED [GARD:0000049]
synonym: "cutis laxa growth deficiency syndrome" RELATED [GARD:0000049]
synonym: "cutis laxa-corneal clouding-intellectual disability syndrome" EXACT [DOID:0070143, Orphanet:2962]
synonym: "De Barsy syndrome" EXACT [DOID:0070143]
synonym: "progeroid syndrome of de Barsy" RELATED [GARD:0000049]
synonym: "progeroid syndrome, De Barsy type" EXACT [Orphanet:2962]
synonym: "progeroid syndrome, de Barsy type" RELATED [GARD:0000049]
xref: DOID:0070143 {source="MONDO:equivalentTo"}
xref: GARD:49 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:2962/attributed", source="Orphanet:2962/ntbt", source="Orphanet:2962"}
xref: MEDGEN:82794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535990 {source="Orphanet:2962", source="MONDO:equivalentTo", source="Orphanet:2962/e"}
xref: NORD:1034 {source="MONDO:NORD"}
xref: Orphanet:2962 {source="DOID:0070143", source="MONDO:equivalentTo", source="GARD:0000049"}
xref: PMID:18388779 {source="DOID:0070143"}
xref: SCTID:238826008 {source="DOID:0070143", source="MONDO:equivalentTo"}
xref: SCTID:59252009 {source="DOID:0070143"}
xref: UMLS:C0268354 {source="MEDGEN:82794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006025 {source="https://orcid.org/0000-0002-2825-0621"} ! autosomal recessive disease
is_a: MONDO:0019303 {source="Orphanet:2962"} ! premature aging syndrome
relationship: excluded_subClassOf MONDO:0016133 {source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare hereditary metabolic disease with peripheral neuropathy
relationship: excluded_subClassOf MONDO:0016175 {source="DOID:0070143", source="MESH:C535990", source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! cutis laxa
relationship: excluded_subClassOf MONDO:0017355 {source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of proline metabolism
relationship: excluded_subClassOf MONDO:0019058 {source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurometabolic disease
relationship: excluded_subClassOf MONDO:0020215 {source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic corneal dystrophy
relationship: excluded_subClassOf MONDO:0020228 {source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cataract associated with a metabolic disease
relationship: excluded_subClassOf MONDO:0020280 {source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metabolic disease with cataract

[Term]
id: MONDO:0017570
name: leukocyte adhesion deficiency
def: "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections." [Orphanet:2968]
subset: gard_rare {source="GARD:16616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2968"}
subset: orphanet_rare {source="Orphanet:2968"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital leukocyte adherence deficiency" EXACT [DOID:6612]
synonym: "LAD" BROAD ABBREVIATION [Orphanet:2968]
xref: DOID:6612 {source="MONDO:equivalentTo"}
xref: GARD:16616 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="DOID:6612", source="Orphanet:2968", source="Orphanet:2968/attributed", source="Orphanet:2968/ntbt"}
xref: MEDGEN:124419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018370 {source="Orphanet:2968/e", source="DOID:6612", source="Orphanet:2968"}
xref: NANDO:1200355 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200755 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27874 {source="DOID:6612", source="MONDO:equivalentTo"}
xref: Orphanet:2968 {source="DOID:6612", source="MONDO:equivalentTo"}
xref: SCTID:77358003 {source="DOID:6612", source="MONDO:equivalentTo"}
xref: UMLS:C0272187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124419"}
is_a: MONDO:0006025 {source="DOID:6612", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015978 {source="Orphanet:2968"} ! functional neutrophil defect
relationship: has_characteristic HP:0000007 {source="Orphanet:2968"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0017571
name: Proteus-like syndrome
def: "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease." [Orphanet:2969]
subset: gard_rare {source="GARD:12801", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2969"}
subset: orphanet_rare {source="Orphanet:2969"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cohen-Hayden syndrome" EXACT [Orphanet:2969]
synonym: "Proteus like syndrome intellectual disability eye defect" RELATED [GARD:0004525]
synonym: "Proteus like syndrome mental retardation eye defect" RELATED DEPRECATED [GARD:0004525]
xref: GARD:12801 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:2969/attributed", source="Orphanet:2969/ntbt", source="Orphanet:2969"}
xref: MEDGEN:356222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C179930 {source="MONDO:equivalentTo"}
xref: Orphanet:2969 {source="MONDO:equivalentTo"}
xref: SCTID:716862002 {source="MONDO:equivalentTo"}
xref: UMLS:C1866398 {source="MEDGEN:356222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015356 {source="PMID:35582557", source="https://orcid.org/0009-0001-6494-4831"} ! hereditary neoplastic syndrome
is_a: MONDO:0017623 {source="NCIT:C179915", source="https://orcid.org/0000-0001-5208-3432"} ! PTEN hamartoma tumor syndrome
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor
relationship: disease_shares_features_of MONDO:0008318 ! Proteus syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6533" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017572
name: tick-borne encephalitis
def: "Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis." [Orphanet:297]
subset: gard_rare {source="GARD:5216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:297"}
subset: orphanet_rare {source="Orphanet:297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central European encephalitis" EXACT [DOID:0050175]
synonym: "Far Eastern TBE" EXACT [DOID:0050175]
synonym: "Russian spring-summer encephalitis" EXACT [DOID:0050175]
synonym: "Siberian tick-borne encephalitis" EXACT [DOID:0050175]
synonym: "taiga encephalitis" EXACT [DOID:0050175]
synonym: "TBE" EXACT ABBREVIATION [Orphanet:297]
synonym: "Tick-borne viral encephalitis" EXACT [NCIT:C34579]
synonym: "west-Siberian encephalitis" EXACT [DOID:0050175]
synonym: "Western European tick-borne encephalitis" EXACT [DOID:0050175]
xref: DOID:0050175 {source="MONDO:equivalentTo"}
xref: EFO:1001309 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5216 {source="MONDO:GARD"}
xref: ICD10CM:A84.0 {source="Orphanet:297/btnt", source="Orphanet:297"}
xref: ICD10CM:A84.1 {source="Orphanet:297/btnt", source="Orphanet:297", source="DOID:0050175"}
xref: ICD10CM:A84.8 {source="Orphanet:297/btnt", source="Orphanet:297"}
xref: ICD10CM:A84.9 {source="Orphanet:297/btnt", source="Orphanet:297"}
xref: ICD9:063.2 {source="DOID:0050175"}
xref: MedDRA:10043848 {source="Orphanet:297/e", source="Orphanet:297"}
xref: MEDGEN:4034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004675 {source="Orphanet:297/e", source="MONDO:equivalentTo", source="Orphanet:297", source="DOID:0050175"}
xref: NCIT:C34579 {source="MONDO:equivalentTo"}
xref: Orphanet:297 {source="MONDO:equivalentTo"}
xref: SCTID:16901001 {source="DOID:0050175"}
xref: UMLS:C0014061 {source="MEDGEN:4034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C34579", source="Orphanet:297"} ! viral encephalitis
is_a: MONDO:0020067 {source="MESH:D004675/inferred", source="MONDO:Redundant", source="NCIT:C34579/inferred", source="Orphanet:297"} ! infectious encephalitis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature HP:0001289 ! Confusion
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature HP:0002329 ! Drowsiness
relationship: disease_has_feature HP:0003470 ! Paralysis
relationship: disease_has_infectious_agent NCBITaxon:11084 ! Tick-borne encephalitis virus
relationship: transmitted_by NCBITaxon:6944 ! Ixodes
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis" xsd:anyURI {source="GARD:0005216"}

[Term]
id: MONDO:0017573
name: 46,XX disorder of sex development-anorectal anomalies syndrome
def: "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut." [Orphanet:2973]
subset: gard_rare {source="GARD:18782", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2973"}
subset: ordo_malformation_syndrome {source="Orphanet:2973"}
subset: orphanet_rare {source="Orphanet:2973"}
subset: rare
synonym: "female pseudohermaphroditism-anorectal anomalies syndrome" EXACT [Orphanet:2973]
xref: GARD:18782 {source="MONDO:GARD"}
xref: ICD10CM:Q56.2 {source="Orphanet:2973/attributed", source="Orphanet:2973/ntbt", source="Orphanet:2973"}
xref: MEDGEN:1382292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2973 {source="MONDO:equivalentTo"}
xref: UMLS:C4518078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1382292"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0017576 {source="Orphanet:2973"} ! 46,XX disorder of sex development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0017574
name: chronic intestinal pseudoobstruction
def: "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." [Orphanet:2978]
subset: gard_rare {source="GARD:12744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:970"}
subset: ordo_clinical_syndrome {source="Orphanet:2978"}
subset: ordo_disorder {source="Orphanet:2978"}
subset: orphanet_rare {source="Orphanet:2978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chronic Intestinal Pseudo-Obstruction" EXACT [NORD:970]
synonym: "chronic intestinal pseudo-obstruction" EXACT [MONDO:design_pattern]
synonym: "cipo" EXACT [Orphanet:2978]
synonym: "intestinal pseudo-obstruction, chronic" EXACT [MONDO:patterns/chronic]
xref: GARD:12744 {source="MONDO:GARD"}
xref: ICD10CM:K59.8 {source="Orphanet:2978/attributed", source="Orphanet:2978/ntbt", source="Orphanet:2978"}
xref: MEDGEN:536759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200458 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200946 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:970 {source="MONDO:NORD"}
xref: Orphanet:2978 {source="MONDO:equivalentTo"}
xref: SCTID:235828008 {source="MONDO:equivalentTo"}
xref: UMLS:C0238062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536759"}
is_a: MONDO:0021189 {source="Orphanet:2978"} ! intestinal motility disease
intersection_of: MONDO:0002803 ! intestinal pseudo-obstruction
intersection_of: has_characteristic PATO:0001863 ! chronic
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction" xsd:anyURI {source="GARD:0012744"}

[Term]
id: MONDO:0017575
name: mitochondrial neurogastrointestinal encephalomyopathy
def: "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy." [Orphanet:298]
subset: gard_rare {source="GARD:9920", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1449"}
subset: ordo_disorder {source="Orphanet:298"}
subset: orphanet_rare {source="Orphanet:298"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mitochondrial Neurogastrointestinal Encephalopathy" EXACT [NORD:1449]
synonym: "Mitochondrial neurogastrointestinal encephalopathy" EXACT [NCIT:C119678]
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome" RELATED [GARD:0009920]
synonym: "mitochondrial Neurogastrointestingal encephalopathy" EXACT [NCIT:C119678]
synonym: "MNGIE" EXACT ABBREVIATION [GARD:0009920, Orphanet:298]
synonym: "MNGIE syndrome" RELATED [GARD:0009920]
synonym: "myoneurogastrointestinal encephalopathy syndrome" RELATED [GARD:0009920]
synonym: "oculogastrointestinal muscular dystrophy" RELATED [GARD:0009920]
synonym: "OGIMD" RELATED ABBREVIATION [GARD:0009920]
synonym: "POLIP" RELATED ABBREVIATION [GARD:0009920]
synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction" RELATED [GARD:0009920]
synonym: "thymidine phosphorylase deficiency" RELATED [GARD:0009920]
xref: GARD:9920 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:298/attributed", source="Orphanet:298/ntbt", source="Orphanet:298"}
xref: MEDGEN:167876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537477 {source="MONDO:equivalentTo"}
xref: NCIT:C119678 {source="MONDO:equivalentTo"}
xref: NORD:1449 {source="MONDO:NORD"}
xref: Orphanet:298 {source="MONDO:equivalentTo", source="GARD:0009920"}
xref: SCTID:718214007 {source="MONDO:equivalentTo"}
xref: UMLS:C0872218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167876"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0009637 {source="MESH:C537477/inferred", source="Orphanet:298", source="Orphanet:298/inferred"} ! inborn mitochondrial myopathy
is_a: MONDO:0019238 {source="Orphanet:298"} ! inborn disorder of pyrimidine metabolism
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome" xsd:anyURI {source="GARD:0009920"}

[Term]
id: MONDO:0017576
name: 46,XX disorder of sex development
def: "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures." [NCIT:C127169]
subset: disease_grouping
subset: gard_rare {source="GARD:18783", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:2982"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XX differences of Sex development" EXACT [NCIT:C127169]
synonym: "46,XX disorders of Sex development" EXACT [NCIT:C127169]
synonym: "46,XX DSD" EXACT [Orphanet:2982]
synonym: "female pseudohermaphroditism" EXACT [Orphanet:2982]
xref: GARD:18783 {source="MONDO:GARD"}
xref: ICD10CM:Q56.2 {source="Orphanet:2982", source="Orphanet:2982/ntbt"}
xref: MEDGEN:424728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058489 {source="Orphanet:2982", source="MONDO:equivalentTo", source="Orphanet:2982/e"}
xref: NCIT:C127169 {source="MONDO:equivalentTo"}
xref: Orphanet:2982 {source="MONDO:equivalentTo"}
xref: Orphanet:325697 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:8800006 {source="MONDO:equivalentTo"}
xref: UMLS:C2936403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424728"}
is_a: MONDO:0002145 {source="MESH:D058489", source="NCIT:C127169", source="Orphanet:2982"} ! disorder of sexual differentiation

[Term]
id: MONDO:0017577
name: spontaneous periodic hypothermia
def: "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions." [Orphanet:29822]
subset: gard_rare {source="GARD:4815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:29822"}
subset: orphanet_rare {source="Orphanet:29822"}
subset: rare
synonym: "episodic spontaneous hypothermia" EXACT [Orphanet:29822]
synonym: "recurrent spontaneous hypothermia with hypoplasia of the corpus callosum" RELATED [GARD:0004815]
synonym: "Shapiro syndrome" EXACT [Orphanet:29822]
synonym: "Shapiro's syndrome" RELATED [GARD:0004815]
synonym: "spontaneous periodic hypothermia syndrome" RELATED [GARD:0004815]
synonym: "spontaneous recurrent hypothermia syndrome" RELATED [GARD:0004815]
xref: GARD:4815 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="Orphanet:29822/ntbt", source="Orphanet:29822"}
xref: MEDGEN:419438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537594 {source="MONDO:equivalentTo"}
xref: Orphanet:29822 {source="MONDO:equivalentTo"}
xref: UMLS:C2931542 {source="MEDGEN:419438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="Orphanet:29822"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0017578
name: disorder of thiamine metabolism and transport
subset: disease_grouping
subset: gard_rare {source="GARD:21231", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:298644"}
subset: rare
xref: GARD:21231 {source="MONDO:GARD"}
xref: MEDGEN:1842558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:298644 {source="MONDO:equivalentTo"}
xref: UMLS:C5681092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842558"}
is_a: MONDO:0017758 {source="Orphanet:298644"} ! disorder of vitamin and non-protein cofactor absorption and transport
relationship: disease_disrupts GO:0015888 ! thiamine transport

[Term]
id: MONDO:0017579
name: Baraitser-Winter cerebrofrontofacial syndrome
def: "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." [Orphanet:2995]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5279", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2995"}
subset: ordo_malformation_syndrome {source="Orphanet:2995"}
subset: orphanet_rare {source="Orphanet:2995"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Baraitser-winter syndrome" EXACT [MONDO:0000719]
synonym: "BRWS" RELATED ABBREVIATION [GARD:0005279]
synonym: "cerebro-frontofacial syndrome, type 3" RELATED [GARD:0005279]
synonym: "Fryns-Aftimos syndrome" RELATED [GARD:0005279]
synonym: "iris coloboma with ptosis hypertelorism and intellectual disability" RELATED [GARD:0005279]
synonym: "iris coloboma with ptosis hypertelorism and mental retardation" RELATED DEPRECATED [GARD:0005279]
synonym: "trigonocephaly ptosis coloboma" RELATED [GARD:0005279]
synonym: "trigonocephaly ptosis intellectual disability" RELATED [GARD:0005279]
synonym: "trigonocephaly ptosis mental retardation" RELATED DEPRECATED [GARD:0005279]
xref: DOID:0060229 {source="MONDO:equivalentTo"}
xref: GARD:5279 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:2995/attributed", source="Orphanet:2995/ntbt", source="Orphanet:2995", source="DOID:0060229"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:340016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:243310 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:2995 {source="MONDO:equivalentTo"}
xref: SCTID:702410002 {source="MONDO:equivalentTo"}
xref: UMLS:C1853623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340016"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:2995"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018838 {source="MONDO:0015147-obsoleted"} ! lissencephaly spectrum disorders
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:243310"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome" xsd:anyURI {source="GARD:0005279"}

[Term]
id: MONDO:0017580
name: 11p15.4 microduplication syndrome
def: "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities." [Orphanet:300305]
subset: gard_rare {source="GARD:21232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300305"}
subset: ordo_malformation_syndrome {source="Orphanet:300305"}
subset: orphanet_rare {source="Orphanet:300305"}
subset: rare
synonym: "dup(11)p(15.4)" EXACT [Orphanet:300305]
synonym: "trisomy 11p15.4" EXACT [Orphanet:300305]
xref: GARD:21232 {source="MONDO:GARD"}
xref: MEDGEN:1660019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300305 {source="MONDO:equivalentTo"}
xref: UMLS:C4749508 {source="MEDGEN:1660019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:300305"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016948 {source="Orphanet:300305"} ! partial duplication of the short arm of chromosome 11
is_a: MONDO:0019716 {source="Orphanet:300305"} ! overgrowth syndrome
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr11p15.4 ! 11p15.4 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:300305", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017581
name: obsolete familial infantile gigantism
subset: ordo_disorder {source="Orphanet:300373"}
subset: otar {source="MONDO:OTAR"}
synonym: "hereditary infantile gigantism" EXACT [Orphanet:300373]
synonym: "hereditary pituitary hyperplasia" EXACT [Orphanet:300373]
synonym: "infantile gigantism due to pituitary hyperplasia" EXACT [Orphanet:300373]
synonym: "X-LAG (X-linked acrogigantism)" EXACT [Orphanet:300373]
xref: GARD:17370 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E22.0 {source="Orphanet:300373/attributed", source="Orphanet:300373/ntbt", source="Orphanet:300373"}
xref: Orphanet:300373 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017582
name: pituitary adenocarcinoma
def: "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." [NCIT:C4536]
subset: gard_rare {source="GARD:9371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300385"}
subset: orphanet_rare {source="Orphanet:300385"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of pituitary" BROAD [NCIT:C4536]
synonym: "cancer of pituitary gland" BROAD [NCIT:C4536]
synonym: "cancer of the pituitary" BROAD [NCIT:C4536]
synonym: "cancer of the pituitary gland" BROAD [NCIT:C4536]
synonym: "carcinoma of pituitary" EXACT [NCIT:C4536]
synonym: "carcinoma of pituitary gland" EXACT [NCIT:C4536]
synonym: "carcinoma of the pituitary" EXACT [NCIT:C4536]
synonym: "carcinoma of the pituitary gland" EXACT [DOID:4916, NCIT:C4536]
synonym: "pituitary adenocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "pituitary carcinoma" EXACT [MONDO:ambiguous, NCIT:C4536]
synonym: "pituitary gland adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4536]
synonym: "pituitary gland cancer" BROAD [NCIT:C4536]
synonym: "pituitary gland cancer, NOS" BROAD EXCLUDE [NCIT:C4536]
synonym: "pituitary gland carcinoma" EXACT [NCIT:C4536]
synonym: "PTCA" RELATED ABBREVIATION [ONCOTREE:PTCA]
xref: DOID:4916 {source="MONDO:equivalentTo"}
xref: GARD:9371 {source="MONDO:GARD"}
xref: HP:0011763 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C75.1 {source="Orphanet:300385/ntbt", source="Orphanet:300385"}
xref: ICDO:8272/3 {source="NCIT:C4536"}
xref: MEDGEN:91096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010911 {source="DOID:4916"}
xref: NCIT:C4536 {source="MONDO:equivalentTo", source="DOID:4916"}
xref: ONCOTREE:PTCA {source="MONDO:equivalentTo"}
xref: Orphanet:300385 {source="MONDO:equivalentTo"}
xref: SCTID:128665000 {source="DOID:4916"}
xref: SCTID:254955001 {source="MONDO:equivalentTo", source="DOID:4916"}
xref: UMLS:C0346300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91096"}
is_a: MONDO:0002109 {source="DOID:4916", source="MONDO:Redundant", source="NCIT:C4536"} ! pituitary cancer
is_a: MONDO:0004970 {source="MONDO:Redundant", source="NCIT:C4536"} ! adenocarcinoma
is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C4536/inferred", source="Orphanet:300385"} ! pituitary tumor
is_a: MONDO:0021069 {source="DOID:4916/inferred", source="NCIT:C4536"} ! malignant endocrine neoplasm
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
property_value: IAO:0000589 "pituitary adenocarcinoma (disease)" xsd:string

[Term]
id: MONDO:0017583
name: mirror polydactyly-vertebral segmentation-limbs defects syndrome
def: "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." [Orphanet:3004]
subset: gard_rare {source="GARD:18784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3004"}
subset: ordo_malformation_syndrome {source="Orphanet:3004"}
subset: orphanet_rare {source="Orphanet:3004"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18784 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:3004", source="Orphanet:3004/attributed", source="Orphanet:3004/ntbt"}
xref: MEDGEN:904039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3004 {source="MONDO:equivalentTo"}
xref: UMLS:C4275100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904039"}
is_a: MONDO:0002254 {source="Orphanet:3004"} ! syndromic disease

[Term]
id: MONDO:0017584
name: Sagliker syndrome
def: "A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face" [PMID:15490409, PMID:27545627]
subset: gard_rare {source="GARD:21233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:300493"}
subset: ordo_disorder {source="Orphanet:300493"}
subset: orphanet_rare {source="Orphanet:300493"}
subset: rare
xref: GARD:21233 {source="MONDO:GARD"}
xref: MEDGEN:1808631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300493 {source="MONDO:equivalentTo"}
xref: UMLS:C5681093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808631"}
is_a: MONDO:0005381 {source="Orphanet:300493"} ! bone disorder
relationship: disease_arises_from_feature MONDO:0006964 {source="PMID:15490409"} ! secondary hyperparathyroidism
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019684"} ! rare

[Term]
id: MONDO:0017585
name: painful orbital and systemic neurofibromas-marfanoid habitus syndrome
subset: gard_rare {source="GARD:11006", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300501"}
subset: orphanet_rare {source="Orphanet:300501"}
subset: rare
synonym: "multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus" RELATED [GARD:0011006]
xref: GARD:11006 {source="MONDO:GARD"}
xref: MEDGEN:1650687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300501 {source="MONDO:equivalentTo"}
xref: UMLS:C4751109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1650687"}
is_a: MONDO:0016752 {source="Orphanet:300501"} ! benign peripheral nerve sheath tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome" xsd:anyURI {source="GARD:0011006"}

[Term]
id: MONDO:0017586
name: onychocytic matricoma
def: "Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision." [https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma]
subset: gard_rare {source="GARD:11007", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300504"}
subset: orphanet_rare {source="Orphanet:300504"}
subset: rare
synonym: "acanthoma of the nail matrix" EXACT [Orphanet:300504]
xref: GARD:11007 {source="MONDO:GARD"}
xref: MEDGEN:1662490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300504 {source="MONDO:equivalentTo"}
xref: UMLS:C4751108 {source="MEDGEN:1662490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017588 {source="Orphanet:300504"} ! nail tumor
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma" xsd:anyURI {source="GARD:0011007"}

[Term]
id: MONDO:0017587
name: onychomatricoma
def: "A neoplasm involving a UBERON:0002283." [MONDO:patterns/neoplasm]
subset: gard_rare {source="GARD:21234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300512"}
subset: orphanet_rare {source="Orphanet:300512"}
subset: rare
synonym: "nail matrix neoplasm" EXACT []
synonym: "nail matrix tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "nail matrix tumour" EXACT OMO:0003005 []
synonym: "neoplasm of nail matrix" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of nail matrix" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of nail matrix" EXACT OMO:0003005 []
xref: GARD:21234 {source="MONDO:GARD"}
xref: MEDGEN:1667118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300512 {source="MONDO:equivalentTo"}
xref: UMLS:C4751078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1667118"}
is_a: MONDO:0017588 {source="MONDO:Redundant", source="Orphanet:300512"} ! nail tumor
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002283 ! nail matrix

[Term]
id: MONDO:0017588
name: nail tumor
def: "A neoplasm involving a nail." [MONDO:patterns/neoplasm]
subset: disease_grouping
subset: gard_rare {source="GARD:21235", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:300515"}
subset: rare
synonym: "nail neoplasm" EXACT []
synonym: "nail neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nail tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of nail" EXACT [MONDO:patterns/neoplasm]
synonym: "rare nail tumor" RELATED [Orphanet:300515]
synonym: "rare nail tumour" RELATED OMO:0003005 []
synonym: "tumor of nail" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of nail" EXACT OMO:0003005 []
xref: GARD:21235 {source="MONDO:GARD"}
xref: MEDGEN:867576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300515 {source="MONDO:equivalentTo"}
xref: UMLS:C4021961 {source="MEDGEN:867576", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001705 ! nail
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:300515", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0017589
name: follicular cholangitis and pancreatitis
def: "Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts." [Orphanet:300552]
subset: gard_rare {source="GARD:21236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300552"}
subset: orphanet_rare {source="Orphanet:300552"}
subset: rare
synonym: "follicular pancreatocholangitis" EXACT [Orphanet:300552]
xref: GARD:21236 {source="MONDO:GARD"}
xref: MEDGEN:1667817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300552 {source="MONDO:equivalentTo"}
xref: UMLS:C4749906 {source="MEDGEN:1667817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002356 {source="Orphanet:300552"} ! pancreas disorder
is_a: MONDO:0004868 {source="Orphanet:300552"} ! biliary tract disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015116"} ! rare

[Term]
id: MONDO:0017590
name: carcinoma of the ampulla of vater
def: "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C3908]
subset: gard_rare {source="GARD:21237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300557"}
subset: orphanet_rare {source="Orphanet:300557"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMPCA" RELATED ABBREVIATION [ONCOTREE:AMPCA]
synonym: "ampulla of Vater cancer" EXACT [NCIT:C3908]
synonym: "ampulla of Vater carcinoma" EXACT [MONDO:0006080, NCIT:C3908]
synonym: "ampullary cancer" EXACT [NCIT:C3908]
synonym: "ampullary carcinoma" EXACT [NCIT:C3908, Orphanet:300557]
synonym: "Ampulloma" EXACT [Orphanet:300557]
synonym: "carcinoma of ampulla of vater" EXACT [DOID:4932]
synonym: "carcinoma of hepatopancreatic ampulla" EXACT [MONDO:patterns/carcinoma]
synonym: "hepatopancreatic ampulla carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4932 {source="MONDO:equivalentTo"}
xref: EFO:1000079 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21237 {source="MONDO:GARD"}
xref: ICD10CM:C24.1 {source="Orphanet:300557", source="Orphanet:300557/ntbt"}
xref: icd11.foundation:267067189 {source="MONDO:equivalentTo", source="Orphanet:300557", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10048853 {source="Orphanet:300557", source="Orphanet:300557/e"}
xref: MEDGEN:120461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3908 {source="DOID:4932", source="MONDO:equivalentTo", source="EFO:1000079"}
xref: ONCOTREE:AMPCA {source="MONDO:equivalentTo"}
xref: Orphanet:300557 {source="MONDO:equivalentTo"}
xref: SCTID:254609000 {source="DOID:4932", source="MONDO:equivalentTo"}
xref: UMLS:C0262401 {source="MEDGEN:120461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000919 {source="DOID:4932", source="MONDO:Redundant", source="NCIT:C3908"} ! ampulla of vater cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3908"} ! digestive system carcinoma
is_a: MONDO:0021335 {source="MONDO:Redundant"} ! carcinoma of duodenum
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla

[Term]
id: MONDO:0017591
name: combined pulmonary fibrosis-emphysema syndrome
subset: gard_rare {source="GARD:21238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300564"}
subset: orphanet_rare {source="Orphanet:300564"}
subset: rare
synonym: "CPFE" EXACT ABBREVIATION [Orphanet:300564]
xref: GARD:21238 {source="MONDO:GARD"}
xref: ICD10CM:J84.1 {source="Orphanet:300564/ntbt", source="Orphanet:300564"}
xref: icd11.foundation:1361267223 {source="Orphanet:300564", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:838971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300564 {source="MONDO:equivalentTo"}
xref: UMLS:C3872815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:838971"}
is_a: MONDO:0002429 {source="Orphanet:300564"} ! idiopathic interstitial pneumonia

[Term]
id: MONDO:0017592
name: staphylococcal toxemia
subset: disease_grouping
subset: gard_rare {source="GARD:21239", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:300579"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21239 {source="MONDO:GARD"}
xref: MedDRA:10041932 {source="Orphanet:300579", source="Orphanet:300579/e"}
xref: MEDGEN:799765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300579 {source="MONDO:equivalentTo"}
xref: UMLS:C0854511 {source="MEDGEN:799765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="Orphanet:300579"} ! bacterial infectious disease
relationship: disease_has_infectious_agent NCBITaxon:1279 ! Staphylococcus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0017593
name: juvenile amyotrophic lateral sclerosis
def: "Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." [Orphanet:300605]
subset: gard_rare {source="GARD:11901", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300605"}
subset: orphanet_rare {source="Orphanet:300605"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyotrophic lateral sclerosis, juvenile" RELATED [GARD:0011901]
synonym: "JALS" EXACT ABBREVIATION [Orphanet:300605]
synonym: "juvenile Charcot disease" EXACT [Orphanet:300605]
synonym: "juvenile Lou Gehrig disease" EXACT [Orphanet:300605]
xref: GARD:11901 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:300605/attributed", source="Orphanet:300605/ntbt", source="Orphanet:300605"}
xref: MEDGEN:923704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300605 {source="MONDO:equivalentTo"}
xref: SCTID:718555006 {source="MONDO:equivalentTo"}
xref: UMLS:C3468114 {source="MONDO:equivalentTo", source="MEDGEN:923704", source="MONDO:MEDGEN"}
is_a: MONDO:0004976 {source="https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis"} ! amyotrophic lateral sclerosis
is_a: MONDO:0005144 {source="https://orcid.org/0000-0002-6601-2165"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0024257 {source="Orphanet:300605"} ! hereditary motor neuron disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis" xsd:anyURI {source="GARD:0011901"}

[Term]
id: MONDO:0017594
name: indolent B-cell non-Hodgkin lymphoma
subset: disease_grouping
subset: gard_rare {source="GARD:21244", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:300842"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B cell lymphoma, indolent" RELATED [GARD:0010482]
synonym: "indolent B cell lymphoma" RELATED [GARD:0010482]
synonym: "indolent B-cell NHL" EXACT [Orphanet:300842]
xref: GARD:21244 {source="MONDO:GARD"}
xref: MEDGEN:1741600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C171299 {source="MONDO:equivalentTo"}
xref: Orphanet:300842 {source="MONDO:equivalentTo"}
xref: UMLS:C5419078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1741600"}
is_a: MONDO:0015759 {source="Orphanet:300842"} ! B-cell non-Hodgkin lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10482/indolent-B-cell-lymphoma" xsd:anyURI {source="GARD:0010482"}

[Term]
id: MONDO:0017595
name: aggressive B-cell non-Hodgkin lymphoma
subset: disease_grouping
subset: gard_rare {source="GARD:21245", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:300846"}
subset: rare
synonym: "aggressive B-cell NHL" EXACT [Orphanet:300846]
xref: GARD:21245 {source="MONDO:GARD"}
xref: MEDGEN:1791561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C178541 {source="MONDO:equivalentTo"}
xref: Orphanet:300846 {source="MONDO:equivalentTo"}
xref: UMLS:C5555120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1791561"}
is_a: MONDO:0015759 {source="Orphanet:300846"} ! B-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0017596
name: diffuse large B-cell lymphoma of the central nervous system
def: "A diffuse large B-cell lymphoma arising from the central nervous system." [NCIT:P378]
subset: gard_rare {source="GARD:21246", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300849"}
subset: orphanet_rare {source="Orphanet:300849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C71720]
synonym: "CNS DLBCL" EXACT [NCIT:C71720]
synonym: "diffuse large B-cell lymphoma of central nervous system" EXACT [MONDO:design_pattern]
synonym: "DLBCL of the CNS" EXACT [Orphanet:300849]
synonym: "primary diffuse large B-cell lymphoma of the central nervous system" EXACT [NCIT:C71720]
synonym: "primary DLBCL of the CNS" EXACT [NCIT:C71720]
xref: DOID:0081313 {source="MONDO:equivalentTo"}
xref: GARD:21246 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:300849/ntbt", source="Orphanet:300849"}
xref: icd11.foundation:1029172881 {source="MONDO:equivalentTo", source="Orphanet:300849", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9680/3 {source="NCIT:C71720"}
xref: MEDGEN:378339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C71720 {source="MONDO:equivalentTo"}
xref: Orphanet:300849 {source="MONDO:equivalentTo"}
xref: SCTID:734066005 {source="MONDO:equivalentTo"}
xref: UMLS:C2026186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:378339"}
is_a: MONDO:0002571 {source="MONDO:Entailed", source="NCIT:C71720/inferred"} ! primary central nervous system lymphoma
is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C71720", source="Orphanet:300849"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0017597
name: T-cell/histiocyte rich large B cell lymphoma
def: "T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course." [Orphanet:300857]
subset: gard_rare {source="GARD:12257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300857"}
subset: orphanet_rare {source="Orphanet:300857"}
subset: rare
synonym: "T-cell rich/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496]
synonym: "T-cell/histiocyte rich lymphoma" EXACT [NCIT:C9496]
synonym: "T-cell/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496]
synonym: "THRLBCL" EXACT ABBREVIATION [ONCOTREE:THRLBCL, Orphanet:300857]
xref: GARD:12257 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:300857", source="Orphanet:300857/ntbt"}
xref: icd11.foundation:257833622 {source="MONDO:equivalentTo", source="Orphanet:300857", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9680/3 {source="NCIT:C9496"}
xref: ICDO:9688/3 {source="NCIT:C9496"}
xref: MEDGEN:232943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9496 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:THRLBCL {source="MONDO:equivalentTo"}
xref: Orphanet:300857 {source="MONDO:equivalentTo"}
xref: UMLS:C1321547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232943"}
is_a: MONDO:0018905 {source="NCIT:C9496", source="Orphanet:300857"} ! diffuse large B-cell lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-B-cell-lymphoma" xsd:anyURI {source="GARD:0012257"}

[Term]
id: MONDO:0017598
name: primary cutaneous anaplastic large cell lymphoma
def: "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features." [Orphanet:300865]
subset: gard_rare {source="GARD:21247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300865"}
subset: orphanet_rare {source="Orphanet:300865"}
subset: rare
synonym: "ALCL, cutaneous" EXACT [NCIT:C6860]
synonym: "anaplastic large-cell lymphoma, primary cutaneous type" EXACT [NCIT:C6860]
synonym: "C-ALCL" EXACT [NCIT:C6860]
synonym: "primary anaplastic large cell lymphoma of skin" EXACT [NCIT:C6860]
synonym: "primary anaplastic large cell lymphoma of the skin" EXACT [NCIT:C6860]
synonym: "primary C-ALCL" EXACT [Orphanet:300865]
synonym: "primary cutaneous CD30 Positive anaplastic large cell lymphoma" EXACT [NCIT:C6860]
synonym: "primary cutaneous CD30+ ALCL" EXACT [NCIT:C6860]
synonym: "primary cutaneous CD30+ anaplastic large cell lymphoma" EXACT [NCIT:C6860]
synonym: "regressive atypical histiocytosis" EXACT [Orphanet:300865]
xref: GARD:21247 {source="MONDO:GARD"}
xref: ICD10CM:C86.6 {source="Orphanet:300865", source="Orphanet:300865/ntbt"}
xref: icd11.foundation:1972636482 {source="MONDO:equivalentTo", source="Orphanet:300865", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10065863 {source="Orphanet:300865", source="Orphanet:300865/e"}
xref: MEDGEN:266255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054446 {source="MONDO:equivalentTo"}
xref: NCIT:C6860 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PCALCL {source="MONDO:equivalentTo"}
xref: Orphanet:300865 {source="MONDO:equivalentTo"}
xref: UMLS:C1301362 {source="MEDGEN:266255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000607 {source="MESH:D054446", source="NCIT:C6860"} ! primary cutaneous T-cell non-Hodgkin lymphoma
is_a: MONDO:0018897 {source="Orphanet:300865"} ! primary cutaneous CD30+ T-cell lymphoproliferative disease
is_a: MONDO:0020325 {source="NCIT:C6860"} ! anaplastic large cell lymphoma

[Term]
id: MONDO:0017599
name: splenic diffuse red pulp small B-cell lymphoma
def: "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism." [Orphanet:300869]
subset: gard_rare {source="GARD:21248", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300869"}
subset: orphanet_rare {source="Orphanet:300869"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SDRPL" EXACT ABBREVIATION [ONCOTREE:SDRPL, Orphanet:300869]
synonym: "splenic diffuse red pulp lymphoma" EXACT [Orphanet:300869]
xref: GARD:21248 {source="MONDO:GARD"}
xref: ICD10CM:C83.0 {source="Orphanet:300869/ntbt", source="Orphanet:300869"}
xref: ICDO:9591/3 {source="NCIT:C80309"}
xref: MEDGEN:397437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80309 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:SDRPL {source="MONDO:equivalentTo"}
xref: Orphanet:300869 {source="MONDO:equivalentTo"}
xref: SCTID:763884007 {source="MONDO:equivalentTo"}
xref: UMLS:C2699508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:397437"}
is_a: MONDO:0017604 {source="Orphanet:300869"} ! marginal zone lymphoma

[Term]
id: MONDO:0017600
name: hairy cell leukemia variant
def: "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C)." [Orphanet:300878]
subset: gard_rare {source="GARD:21249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300878"}
subset: orphanet_rare {source="Orphanet:300878"}
subset: rare
synonym: "hairy cell leukemia variant" EXACT [DOID:713, NCIT:C7401]
synonym: "HCL-V" EXACT [NCIT:C7401]
synonym: "HCL-v" EXACT [MONDO:0004113, Orphanet:300878]
synonym: "leukemic reticuloendotheliosis variant" EXACT [Orphanet:300878]
synonym: "prolymphocytic variant of hairy cell leukaemia" EXACT OMO:0003005 []
synonym: "prolymphocytic variant of hairy cell leukemia" EXACT [NCIT:C7401, Orphanet:300878]
synonym: "prolymphocytic variant of HCL" EXACT [Orphanet:300878]
xref: DOID:713 {source="MONDO:equivalentTo"}
xref: GARD:21249 {source="MONDO:GARD"}
xref: ICD10CM:C91.4 {source="Orphanet:300878", source="Orphanet:300878/ntbt"}
xref: ICDO:9591/3 {source="NCIT:C7401"}
xref: MedDRA:10019054 {source="Orphanet:300878", source="Orphanet:300878/e"}
xref: MEDGEN:91160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7401 {source="DOID:713", source="MONDO:equivalentTo"}
xref: Orphanet:300878 {source="MONDO:equivalentTo"}
xref: SCTID:277568007 {source="DOID:713", source="MONDO:equivalentTo"}
xref: SCTID:54087003 {source="DOID:713"}
xref: UMLS:C0349633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91160"}
is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C7401"} ! chronic leukemia
is_a: MONDO:0005402 {source="MONDO:Redundant", source="NCIT:C7401"} ! lymphoid leukemia
is_a: MONDO:0017594 {source="MONDO:Redundant", source="Orphanet:300878"} ! indolent B-cell non-Hodgkin lymphoma
is_a: MONDO:0018935 {source="DOID:713"} ! hairy cell leukemia

[Term]
id: MONDO:0017601
name: diffuse large B-cell lymphoma with chronic inflammation
def: "Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs." [Orphanet:300888]
subset: gard_rare {source="GARD:21250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:300888"}
subset: orphanet_rare {source="Orphanet:300888"}
subset: rare
synonym: "DLBCL with chronic inflammation" EXACT [Orphanet:300888]
xref: GARD:21250 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:300888", source="Orphanet:300888/ntbt"}
xref: MEDGEN:1374328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:300888 {source="MONDO:equivalentTo"}
xref: UMLS:C4511460 {source="MEDGEN:1374328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017343 {source="Orphanet:300888"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0018905 {source="Orphanet:300888"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0017602
name: ALK-positive anaplastic large cell lymphoma
def: "ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK)." [Orphanet:300895]
subset: gard_rare {source="GARD:21251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:300895"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:300895"}
subset: rare
synonym: "ALCL, ALK+" EXACT [NCIT:C37193]
synonym: "ALK+ ALCL" EXACT [Orphanet:300895]
synonym: "ALK+ anaplastic large cell lymphoma" EXACT [Orphanet:300895]
synonym: "ALK-positive anaplastic large cell lymphoma" EXACT [NCIT:C37193]
synonym: "ALKoma" EXACT [NCIT:C37193]
synonym: "anaplastic large cell lymphoma, ALK-positive" EXACT [NCIT:C37193]
xref: GARD:21251 {source="MONDO:GARD"}
xref: ICD10CM:C84.6 {source="Orphanet:300895", source="Orphanet:300895/e"}
xref: ICDO:9714/3 {source="NCIT:C37193"}
xref: MEDGEN:233117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37193 {source="MONDO:equivalentTo"}
xref: Orphanet:300895 {source="MONDO:equivalentTo"}
xref: UMLS:C1332079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233117"}
is_a: MONDO:0020325 {source="NCIT:C37193", source="Orphanet:300895"} ! anaplastic large cell lymphoma

[Term]
id: MONDO:0017603
name: ALK-negative anaplastic large cell lymphoma
def: "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK)." [Orphanet:300903]
subset: gard_rare {source="GARD:21252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:300903"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:300903"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALCL, ALK-" EXACT [NCIT:C37194]
synonym: "ALK- ALCL" EXACT [Orphanet:300903]
synonym: "ALK- anaplastic large cell lymphoma" EXACT [Orphanet:300903]
synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [NCIT:C37194]
synonym: "anaplastic large cell lymphoma, ALK-negative" EXACT [MONDO:0006083, NCIT:C37194]
xref: EFO:1000083 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21252 {source="MONDO:GARD"}
xref: ICD10CM:C84.7 {source="Orphanet:300903/e", source="Orphanet:300903"}
xref: ICDO:9702/3 {source="NCIT:C37194"}
xref: MEDGEN:272266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37194 {source="MONDO:equivalentTo", source="EFO:1000083"}
xref: Orphanet:300903 {source="MONDO:equivalentTo"}
xref: UMLS:C1332078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272266"}
is_a: MONDO:0020325 {source="EFO:1000083", source="NCIT:C37194", source="Orphanet:300903"} ! anaplastic large cell lymphoma

[Term]
id: MONDO:0017604
name: marginal zone lymphoma
def: "A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." [NCIT:C4341]
subset: disease_grouping
subset: gard_rare {source="GARD:13237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:300912"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoma of marginal zone B cell" EXACT [MONDO:design_pattern]
synonym: "marginal zone B cell lymphoma" EXACT [MONDO:patterns/location]
synonym: "marginal zone B-cell lymphoma" EXACT [MONDO:0006495, NCIT:C4341]
synonym: "marginal zone lymphoma" EXACT [DOID:0050748, NCIT:C4341]
synonym: "MZBCL" EXACT ABBREVIATION [NCIT:C4341]
synonym: "MZL" EXACT ABBREVIATION [NCIT:C4341]
xref: DOID:0050748 {source="MONDO:equivalentTo"}
xref: EFO:1000630 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13237 {source="MONDO:GARD"}
xref: ICDO:9699/3 {source="NCIT:C4341"}
xref: MEDGEN:277950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4341 {source="EFO:1000630", source="MONDO:equivalentTo"}
xref: ONCOTREE:MZL {source="MONDO:equivalentTo"}
xref: Orphanet:300912 {source="MONDO:equivalentTo"}
xref: SCTID:447100004 {source="MONDO:equivalentTo"}
xref: UMLS:C1367654 {source="MEDGEN:277950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004095 {source="DOID:0050748", source="MONDO:Redundant", source="NCIT:C4341/inferred"} ! B-cell neoplasm
is_a: MONDO:0017594 {source="Orphanet:300912"} ! indolent B-cell non-Hodgkin lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location CL:0000845 ! marginal zone B cell of spleen

[Term]
id: MONDO:0017605
name: obsolete ependymal tumor
is_obsolete: true
replaced_by: MONDO:0003266

[Term]
id: MONDO:0017606
name: obsolete facial nerve palsy due to herpes zoster infection
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4637" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005769

[Term]
id: MONDO:0017607
name: caudal regression sequence
def: "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." [Orphanet:3027]
subset: gard_rare {source="GARD:6007", source="MONDO:GARD"}
subset: nord_rare {source="NORD:902", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3027"}
subset: ordo_malformation_syndrome {source="Orphanet:3027"}
subset: orphanet_rare {source="Orphanet:3027"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "caudal dysplasia" EXACT [Orphanet:3027]
synonym: "Caudal Regression Syndrome" EXACT [NORD:902]
synonym: "sacral agenesis syndrome" EXACT [Orphanet:3027]
synonym: "sacral regression syndrome" EXACT [Orphanet:3027]
xref: DOID:0080700 {source="MONDO:equivalentTo"}
xref: GARD:6007 {source="MONDO:GARD"}
xref: ICD10CM:Q76.0 {source="Orphanet:3027/attributed", source="Orphanet:3027/ntbt", source="Orphanet:3027"}
xref: MedDRA:10054842 {source="Orphanet:3027", source="Orphanet:3027/e"}
xref: MedDRA:10059387 {source="Orphanet:3027", source="Orphanet:3027/e"}
xref: MedDRA:10068896 {source="Orphanet:3027", source="Orphanet:3027/e"}
xref: MEDGEN:81254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124505 {source="MONDO:equivalentTo"}
xref: NORD:902 {source="MONDO:NORD"}
xref: Orphanet:3027 {source="MONDO:equivalentTo"}
xref: UMLS:C0300948 {source="MEDGEN:81254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect

[Term]
id: MONDO:0017608
name: obsolete dystrophic epidermolysis bullosa
xref: NANDO:2201343 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3856" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006543

[Term]
id: MONDO:0017609
name: renal tubular dysgenesis
def: "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner." [Orphanet:3033]
subset: gard_rare {source="GARD:379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3033"}
subset: ordo_malformation_syndrome {source="Orphanet:3033"}
subset: orphanet_rare {source="Orphanet:3033"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "primitive renal tubule syndrome" EXACT [Orphanet:3033]
synonym: "renotubular dysgenesis" EXACT [Orphanet:3033]
xref: GARD:379 {source="MONDO:GARD"}
xref: ICD10CM:Q63.8 {source="Orphanet:3033/ntbt", source="Orphanet:3033"}
xref: icd11.foundation:191424358 {source="MONDO:equivalentTo", source="Orphanet:3033"}
xref: MEDGEN:82738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3033 {source="MONDO:equivalentTo"}
xref: SCTID:702397002 {source="MONDO:equivalentTo"}
xref: UMLS:C0266313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82738"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder

[Term]
id: MONDO:0017610
name: epidermolysis bullosa simplex
def: "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." [Orphanet:304]
subset: disease_grouping
subset: gard_rare {source="GARD:10752", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:304"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBS" EXACT ABBREVIATION [Orphanet:304]
synonym: "EEB" EXACT ABBREVIATION [Orphanet:304]
synonym: "epidermolysis bullosa intraepidermic" RELATED [GARD:0010752]
synonym: "epidermolysis bullosa simplex" EXACT [DOID:4644]
xref: DOID:4644 {source="MONDO:equivalentTo"}
xref: GARD:10752 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:304", source="DOID:4644", source="MONDO:equivalentTo", source="Orphanet:304/e", source="Orphanet:304/specific"}
xref: icd11.foundation:1860717527 {source="Orphanet:304", source="MONDO:equivalentTo"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:86896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016110 {source="DOID:4644", source="MONDO:equivalentTo"}
xref: NANDO:1200235 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201341 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201375 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84692 {source="DOID:4644", source="MONDO:equivalentTo"}
xref: OMIMPS:131760 {source="MONDO:equivalentTo"}
xref: Orphanet:304 {source="MONDO:equivalentTo"}
xref: SCTID:205585003 {source="DOID:4644"}
xref: SCTID:67144006 {source="DOID:4644", source="MONDO:equivalentTo"}
xref: UMLS:C0079298 {source="MEDGEN:86896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006541 {source="DOID:4644", source="ICD10CM:Q81.0", source="MESH:D016110", source="MONDO:Redundant", source="NCIT:C84692"} ! epidermolysis bullosa
is_a: MONDO:0019276 {source="Orphanet:304"} ! inherited epidermolysis bullosa
relationship: has_characteristic MONDO:0021152 {source="MONDO:equivalentTo"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex" xsd:anyURI {source="GARD:0010752"}

[Term]
id: MONDO:0017611
name: pituitary tumor
def: "A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland." [NCIT:C3330]
subset: disease_grouping
subset: gard_rare {source="GARD:21253", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:304055"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of pituitary" EXACT [NCIT:C3330]
synonym: "neoplasm of pituitary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3330]
synonym: "neoplasm of the pituitary" EXACT [NCIT:C3330]
synonym: "neoplasm of the pituitary gland" EXACT [NCIT:C3330]
synonym: "pituitary gland neoplasm" EXACT [NCIT:C3330]
synonym: "pituitary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3330]
synonym: "pituitary gland tumour" EXACT OMO:0003005 []
synonym: "pituitary neoplasm" EXACT [NCIT:C3330]
synonym: "pituitary tumor" EXACT [NCIT:C3330]
synonym: "tumor of pituitary" EXACT [NCIT:C3330]
synonym: "tumor of pituitary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3330]
synonym: "tumor of the pituitary" EXACT [NCIT:C3330]
synonym: "tumor of the pituitary gland" EXACT [NCIT:C3330]
synonym: "tumour of pituitary" EXACT OMO:0003005 []
synonym: "tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "tumour of the pituitary" EXACT OMO:0003005 []
synonym: "tumour of the pituitary gland" EXACT OMO:0003005 []
xref: GARD:21253 {source="MONDO:GARD"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3330 {source="MONDO:equivalentTo"}
xref: Orphanet:304055 {source="MONDO:equivalentTo"}
xref: SCTID:127024001 {source="MONDO:equivalentTo"}
xref: UMLS:C0032019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19326"}
is_a: MONDO:0002082 {source="MONDO:Entailed", source="Orphanet:304055"} ! endocrine gland neoplasm
is_a: MONDO:0002720 {source="MONDO:Entailed", source="NCIT:C3330"} ! sella turcica neoplasm
is_a: MONDO:0003381 {source="MONDO:Redundant", source="NCIT:C3330"} ! pituitary gland disorder
is_a: MONDO:0005070 {source="NCIT:C3330/inferred"} ! neoplasm
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C3330/inferred"} ! central nervous system neoplasm
is_a: MONDO:0006799 ! hypothalamic neoplasm
is_a: MONDO:0021211 {source="MONDO:Entailed", source="NCIT:C3330/inferred"} ! brain neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland

[Term]
id: MONDO:0017612
name: junctional epidermolysis bullosa
def: "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." [Orphanet:305]
subset: disease_grouping
subset: gard_rare {source="GARD:2152", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:305"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital junctional epidermolysis bullosa" EXACT []
synonym: "EBJ" EXACT ABBREVIATION [Orphanet:305]
synonym: "epidermolysis bullosa atrophicans" EXACT [Orphanet:305]
synonym: "epidermolysis bullosa hereditaria letalis" RELATED []
synonym: "epidermolysis bullosa, junctional" RELATED [GARD:0002152]
synonym: "JEB" EXACT ABBREVIATION [Orphanet:305]
synonym: "junctional epidermolysis bullosa" EXACT CLINGEN_LABEL []
xref: DOID:3209 {source="MONDO:equivalentTo"}
xref: GARD:2152 {source="MONDO:GARD"}
xref: icd11.foundation:1501260457 {source="Orphanet:305", source="MONDO:equivalentTo"}
xref: MEDGEN:86898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016109 {source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209", source="Orphanet:305/e"}
xref: NANDO:1200236 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201342 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C90598 {source="MONDO:equivalentTo", source="DOID:3209"}
xref: OMIMPS:226650 {source="MONDO:equivalentTo"}
xref: Orphanet:305 {source="MONDO:equivalentTo"}
xref: SCTID:33662006 {source="DOID:3209"}
xref: SCTID:399971009 {source="DOID:3209"}
xref: SCTID:76905008 {source="DOID:3209"}
xref: SCTID:79855003 {source="MONDO:equivalentTo", source="DOID:3209"}
xref: UMLS:C0079301 {source="MEDGEN:86898", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006541 {source="DOID:3209", source="MESH:D016109", source="MONDO:Redundant", source="NCIT:C90598", source="Orphanet:305"} ! epidermolysis bullosa
is_a: MONDO:0019276 {source="MONDO:Redundant", source="Orphanet:305"} ! inherited epidermolysis bullosa
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:226650"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa" xsd:anyURI {source="GARD:0002152"}

[Term]
id: MONDO:0017613
name: intellectual disability-hypotonia-skin hyperpigmentation syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "Medrano Roldan syndrome" RELATED [GARD:0003441]
synonym: "Medrano-Roldan syndrome" EXACT [Orphanet:3050]
xref: Orphanet:3050 {source="MONDO:equivalentObsolete", source="GARD:0003441"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3050", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3441/medrano-roldan-syndrome" xsd:anyURI {source="GARD:0003441"}

[Term]
id: MONDO:0017614
name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
def: "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." [Orphanet:3055]
subset: gard_rare {source="GARD:345", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3055"}
subset: ordo_malformation_syndrome {source="Orphanet:3055"}
subset: orphanet_rare {source="Orphanet:3055"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Sex-linked intellectual disability, short stature, obesity and hypogonadism" RELATED [GARD:0000345]
synonym: "Sex-linked mental retardation, short stature, obesity and hypogonadism" RELATED DEPRECATED [GARD:0000345]
synonym: "X-linked intellectual disability - short stature – obesity" RELATED [GARD:0000345]
synonym: "Young-Hughes syndrome" EXACT [Orphanet:3055]
xref: GARD:345 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3055/attributed", source="Orphanet:3055/ntbt", source="Orphanet:3055"}
xref: MEDGEN:162925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536715 {source="MONDO:equivalentTo"}
xref: Orphanet:3055 {source="MONDO:equivalentTo"}
xref: UMLS:C0796264 {source="MEDGEN:162925", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:3055"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:3055", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017615
name: benign familial infantile epilepsy
def: "A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:306]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:857", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306"}
subset: orphanet_rare {source="Orphanet:306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign familial infantile convulsion" EXACT [DOID:0060169]
synonym: "benign familial infantile convulsions" EXACT [Orphanet:306]
synonym: "benign familial infantile seizures" EXACT [DOID:0060169, Orphanet:306]
synonym: "BFIC" EXACT ABBREVIATION [DOID:0060169]
synonym: "BFIE" EXACT ABBREVIATION [DOID:0060169, Orphanet:306]
synonym: "BFIS" EXACT ABBREVIATION [Orphanet:306]
synonym: "seizures, benign familial infantile" EXACT [OMIMPS:601764]
xref: DOID:0060169 {source="MONDO:equivalentTo"}
xref: GARD:857 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:306/attributed", source="Orphanet:306/ntbt", source="Orphanet:306"}
xref: icd11.foundation:1944845279 {source="Orphanet:306", source="MONDO:equivalentTo"}
xref: ICD9:V17.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1806836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:601764 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:306 {source="DOID:0060169", source="MONDO:equivalentTo"}
xref: SCTID:230410004 {source="MONDO:equivalentTo"}
xref: UMLS:C5575231 {source="MEDGEN:1806836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000413 {source="DOID:0060169"} ! infancy electroclinical syndrome
is_a: MONDO:0015642 {source="Orphanet:306"} ! benign partial infantile seizures
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601764"} ! inherited

[Term]
id: MONDO:0017616
name: X-linked intellectual disability, Schutz type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:Q87.8 {source="Orphanet:3062", source="Orphanet:3062/attributed", source="Orphanet:3062/ntbt"}
xref: Orphanet:3062 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0020119 {source="Orphanet:3062", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017617
name: acquired adult-onset immunodeficiency
def: "A acquired immunodeficiency that occurs in an adult." [MONDO:patterns/adult]
subset: gard_rare {source="GARD:11992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306431"}
subset: orphanet_rare {source="Orphanet:306431"}
subset: rare
synonym: "acquired immunodeficiency of adults" EXACT [MONDO:patterns/adult]
synonym: "adult acquired immunodeficiency" EXACT []
synonym: "adult onset immunodeficiency syndrome" RELATED [GARD:0011992]
synonym: "adult-onset immunodeficiency due to anti-interferon-gamma autoantibody" RELATED [GARD:0011992]
synonym: "adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies" RELATED [GARD:0011992]
synonym: "adult-onset immunodeficiency with anti-interferon-gamma autoantibodies" EXACT [Orphanet:306431]
synonym: "anti-IFN-gamma autoantibody syndrome" RELATED [GARD:0011992]
xref: GARD:11992 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:306431", source="Orphanet:306431/ntbt"}
xref: MEDGEN:1684214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306431 {source="MONDO:equivalentTo"}
xref: UMLS:C5191336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684214"}
is_a: MONDO:0017769 {source="Orphanet:306431"} ! acquired immunodeficiency
intersection_of: MONDO:0017769 ! acquired immunodeficiency
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0017618
name: congenital sucrase-isomaltase deficiency with starch intolerance
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital sucrase-isomaltose malabsorption with starch intolerance" EXACT [Orphanet:306436]
synonym: "congenital sucrose intolerance with starch intolerance" EXACT [Orphanet:306436]
synonym: "CSID with starch intolerance" EXACT [Orphanet:306436]
synonym: "disaccharide intolerance with starch intolerance" EXACT [Orphanet:306436]
xref: ICD10CM:E74.3 {source="Orphanet:306436", source="Orphanet:306436/attributed", source="Orphanet:306436/ntbt"}
xref: Orphanet:306436 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0009114 {source="Orphanet:306436"} ! congenital sucrase-isomaltase deficiency
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017619
name: congenital sucrase-isomaltase deficiency with minimal starch tolerance
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital sucrase-isomaltose malabsorption with minimal starch tolerance" EXACT [Orphanet:306446]
synonym: "congenital sucrose intolerance with minimal starch tolerance" EXACT [Orphanet:306446]
synonym: "CSID with minimal starch tolerance" EXACT [Orphanet:306446]
synonym: "disaccharide intolerance with minimal starch tolerance" EXACT [Orphanet:306446]
xref: ICD10CM:E74.3 {source="Orphanet:306446/attributed", source="Orphanet:306446/ntbt", source="Orphanet:306446"}
xref: Orphanet:306446 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0009114 {source="Orphanet:306446"} ! congenital sucrase-isomaltase deficiency
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017620
name: congenital sucrase-isomaltase deficiency without starch intolerance
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital sucrase-isomaltose malabsorption without starch intolerance" EXACT [Orphanet:306462]
synonym: "congenital sucrose intolerance without starch intolerance" EXACT [Orphanet:306462]
synonym: "CSID without starch intolerance" EXACT [Orphanet:306462]
synonym: "disaccharide intolerance without starch intolerance" EXACT [Orphanet:306462]
xref: ICD10CM:E74.3 {source="Orphanet:306462", source="Orphanet:306462/attributed", source="Orphanet:306462/ntbt"}
xref: Orphanet:306462 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0009114 {source="Orphanet:306462"} ! congenital sucrase-isomaltase deficiency
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
disjoint_from: MONDO:0017621 ! congenital sucrase-isomaltase deficiency with starch and lactose intolerance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017621
name: congenital sucrase-isomaltase deficiency with starch and lactose intolerance
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital sucrase-isomaltose malabsorption with starch and lactose intolerance" EXACT [Orphanet:306474]
synonym: "congenital sucrose intolerance with starch and lactose intolerance" EXACT [Orphanet:306474]
synonym: "CSID with starch and lactose intolerance" EXACT [Orphanet:306474]
synonym: "disaccharide intolerance with starch and lactose intolerance" EXACT [Orphanet:306474]
xref: ICD10CM:E74.3 {source="Orphanet:306474/attributed", source="Orphanet:306474/ntbt", source="Orphanet:306474"}
xref: Orphanet:306474 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0009114 {source="Orphanet:306474"} ! congenital sucrase-isomaltase deficiency
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
relationship: disease_has_feature HP:0004789 ! Lactose intolerance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017622
name: congenital sucrase-isomaltase deficiency without sucrose intolerance
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital sucrose-isomaltose malabsorption without sucrose intolerance" EXACT [Orphanet:306486]
synonym: "CSID without sucrose intolerance" EXACT [Orphanet:306486]
synonym: "disaccharide intolerance without sucrose intolerance" EXACT [Orphanet:306486]
xref: ICD10CM:E74.3 {source="Orphanet:306486", source="Orphanet:306486/attributed", source="Orphanet:306486/ntbt"}
xref: Orphanet:306486 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0009114 {source="Orphanet:306486"} ! congenital sucrase-isomaltase deficiency
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017623
name: PTEN hamartoma tumor syndrome
def: "A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS." [Orphanet:306498]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12800", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1631"}
subset: ordo_group_of_disorders {source="Orphanet:306498"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHTS" EXACT ABBREVIATION [Orphanet:306498]
synonym: "PTEN hamartoma tumor syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0080191 {source="MONDO:equivalentTo"}
xref: GARD:12800 {source="MONDO:GARD"}
xref: MEDGEN:368366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C179915 {source="MONDO:equivalentTo"}
xref: NORD:1631 {source="MONDO:NORD"}
xref: Orphanet:306498 {source="MONDO:equivalentTo"}
xref: SCTID:722859001 {source="MONDO:equivalentTo"}
xref: UMLS:C1959582 {source="MEDGEN:368366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:306498", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome" xsd:anyURI {source="GARD:0012800"}

[Term]
id: MONDO:0017624
name: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN)." [Orphanet:306516]
subset: disease_grouping
subset: gard_rare {source="GARD:21254", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306516"}
subset: orphanet_rare {source="Orphanet:306516"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FHHNC" EXACT ABBREVIATION [Orphanet:306516]
synonym: "Michellis-Castrillo syndrome" EXACT [Orphanet:306516]
xref: GARD:21254 {source="MONDO:GARD"}
xref: ICD10CM:E83.4 {source="Orphanet:306516", source="Orphanet:306516/attributed", source="Orphanet:306516/ntbt"}
xref: MEDGEN:1843047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306516 {source="MONDO:equivalentTo"}
xref: UMLS:C5679977 {source="MONDO:equivalentTo", source="MEDGEN:1843047", source="MONDO:MEDGEN"}
is_a: MONDO:0018100 {source="Orphanet:306516"} ! familial primary hypomagnesemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis" xsd:anyURI {source="GARD:0009891"}

[Term]
id: MONDO:0017625
name: familial primary hypomagnesemia with hypocalcuria
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: Orphanet:306519 {source="MONDO:equivalentObsolete"}
xref: SCTID:711151004 {source="MONDO:equivalentTo"}
is_a: MONDO:0018100 {source="Orphanet:306519"} ! familial primary hypomagnesemia

[Term]
id: MONDO:0017626
name: familial primary hypomagnesemia with normocalcuria
def: "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type." [Orphanet:306522]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:E83.4 {source="Orphanet:306522/attributed", source="Orphanet:306522/ntbt", source="Orphanet:306522"}
xref: Orphanet:306522 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0018100 {source="Orphanet:306522"} ! familial primary hypomagnesemia

[Term]
id: MONDO:0017627
name: congenital hereditary facial paralysis-variable hearing loss syndrome
def: "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." [Orphanet:306530]
subset: gard_rare {source="GARD:17379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306530"}
subset: ordo_morphological_anomaly {source="Orphanet:306530"}
subset: orphanet_rare {source="Orphanet:306530"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hereditary facial palsy with variable deafness" EXACT [Orphanet:306530]
synonym: "congenital hereditary facial palsy with variable hearing loss" EXACT [Orphanet:306530]
synonym: "congenital hereditary facial paralysis with variable deafness" EXACT [Orphanet:306530]
synonym: "congenital hereditary facial paralysis-variable deafness syndrome" EXACT [Orphanet:306530]
xref: GARD:17379 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:306530", source="Orphanet:306530/attributed", source="Orphanet:306530/ntbt"}
xref: MEDGEN:928261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306530 {source="MONDO:equivalentTo"}
xref: SCTID:722389002 {source="MONDO:equivalentTo"}
xref: UMLS:C4302592 {source="MEDGEN:928261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0023369 {source="https://orcid.org/0009-0001-6494-4831"} ! disorder of facial skeleton
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0017628
name: myospherulosis
subset: gard_rare {source="GARD:21255", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306553"}
subset: orphanet_rare {source="Orphanet:306553"}
subset: rare
synonym: "spherulocytosis" EXACT [Orphanet:306553]
synonym: "subcutaneous spherulocystic disease" EXACT [Orphanet:306553]
xref: GARD:21255 {source="MONDO:GARD"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:507970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306553 {source="MONDO:equivalentTo"}
xref: SCTID:81139004 {source="MONDO:equivalentTo"}
xref: UMLS:C0027123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507970"}
is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare

[Term]
id: MONDO:0017629
name: obsolete sodium channelopathy-related small fiber neuropathy
subset: ordo_disorder {source="Orphanet:306577"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17382 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306577 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017630
name: X-linked complicated spastic paraplegia type 1
def: "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain." [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1484]
subset: gard_rare {source="GARD:12525", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:306617"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPG1" EXACT ABBREVIATION [Orphanet:306617]
xref: GARD:12525 {source="MONDO:GARD"}
xref: MEDGEN:1843445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306617 {source="MONDO:equivalentTo"}
xref: UMLS:C5779711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843445"}
is_a: MONDO:0017140 {source="Orphanet:306617", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome
relationship: has_characteristic HP:0001419 {source="Orphanet:306617"} ! X-linked recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6470 {source="Orphanet:306617"} ! L1CAM

[Term]
id: MONDO:0017631
name: obsolete rare tumor of gallbladder and extrahepatic biliary tract
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306633"}
synonym: "rare tumor of gallbladder and EBT" EXACT [Orphanet:306633]
xref: GARD:21256 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306633 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017632
name: obsolete rare tumor of liver and intrahepatic biliary tract
def: "OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306636"}
synonym: "rare liver and intrahepatic bile duct neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare tumor of liver and IBT" EXACT [Orphanet:306636]
xref: GARD:21257 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306636 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024477

[Term]
id: MONDO:0017633
name: obsolete rare intoxication due to medical products
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306640"}
xref: GARD:21258 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306640 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017634
name: non-infectious anterior uveitis
subset: disease_grouping
subset: gard_rare {source="GARD:21260", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:306648"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-infectious iridocyclitis" EXACT [Orphanet:306648]
xref: GARD:21260 {source="MONDO:GARD"}
xref: MEDGEN:573080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306648 {source="MONDO:equivalentTo"}
xref: SCTID:267619000 {source="MONDO:equivalentTo"}
xref: UMLS:C0339317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573080"}
is_a: MONDO:0006651 {source="Orphanet:306648"} ! anterior uveitis

[Term]
id: MONDO:0017635
name: obsolete parkinsonian syndrome due to neurodegenerative disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: parkinsonian disorder'
subset: ordo_group_of_disorders {source="Orphanet:306666"}
xref: GARD:21261 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306666 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021095

[Term]
id: MONDO:0017636
name: hemiparkinsonism-hemiatrophy syndrome
def: "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." [Orphanet:306669]
subset: gard_rare {source="GARD:21262", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306669"}
subset: orphanet_rare {source="Orphanet:306669"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hp-HA syndrome" EXACT [Orphanet:306669]
xref: GARD:21262 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="Orphanet:306669/attributed", source="Orphanet:306669/ntbt", source="Orphanet:306669"}
xref: icd11.foundation:193784690 {source="Orphanet:306669", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1627807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306669 {source="MONDO:equivalentTo"}
xref: UMLS:C4545231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1627807"}
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder

[Term]
id: MONDO:0017637
name: obsolete rare parkinsonian syndrome due to intoxication
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306679"}
xref: GARD:21263 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306679 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017638
name: manganese poisoning
def: "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" [MESH:D020149]
subset: gard_rare {source="GARD:21264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306682"}
subset: orphanet_rare {source="Orphanet:306682"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "manganese intoxication" EXACT [Orphanet:306682]
synonym: "Manganism" EXACT [Orphanet:306682]
xref: EFO:1001808 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21264 {source="MONDO:GARD"}
xref: ICD10CM:T57.2 {source="Orphanet:306682", source="Orphanet:306682/e"}
xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10058951 {source="Orphanet:306682", source="Orphanet:306682/e"}
xref: MESH:D020149 {source="MONDO:equivalentTo"}
xref: Orphanet:306682 {source="MONDO:equivalentTo"}
xref: SCTID:88687001 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:306682"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:25154 ! manganese molecular entity
relationship: excluded_subClassOf MONDO:0017637 {source="Orphanet:306682", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare parkinsonian syndrome due to intoxication
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0017639
name: carbon monoxide-induced parkinsonism
subset: gard_rare {source="GARD:21265", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306686"}
subset: orphanet_rare {source="Orphanet:306686"}
subset: rare
synonym: "CO-induced parkinsonism" EXACT [Orphanet:306686]
xref: GARD:21265 {source="MONDO:GARD"}
xref: ICD10CM:G21.2 {source="Orphanet:306686/ntbt", source="Orphanet:306686"}
xref: MEDGEN:581450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306686 {source="MONDO:equivalentTo"}
xref: SCTID:230293003 {source="MONDO:equivalentTo"}
xref: UMLS:C0393565 {source="MONDO:equivalentTo", source="MEDGEN:581450", source="MONDO:MEDGEN"}
is_a: MONDO:0021095 {source="MONDO:0017637-obsoleted"} ! parkinsonian disorder
is_a: MONDO:0029000 {source="Orphanet:306686"} ! poisoning
intersection_of: MONDO:0021095 ! parkinsonian disorder
intersection_of: realized_in_response_to_stimulus CHEBI:17245 ! carbon monoxide
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0017640
name: cyanide-induced parkinsonism
def: "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." [Orphanet:306692]
subset: gard_rare {source="GARD:21266", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306692"}
subset: orphanet_rare {source="Orphanet:306692"}
subset: rare
xref: GARD:21266 {source="MONDO:GARD"}
xref: ICD10CM:G21.2 {source="Orphanet:306692", source="Orphanet:306692/ntbt"}
xref: MEDGEN:1639789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306692 {source="MONDO:equivalentTo"}
xref: SCTID:766872002 {source="MONDO:equivalentTo"}
xref: UMLS:C4707859 {source="MONDO:equivalentTo", source="MEDGEN:1639789", source="MONDO:MEDGEN"}
is_a: MONDO:0021095 {source="MONDO:0017637-obsoleted"} ! parkinsonian disorder
is_a: MONDO:0029000 {source="Orphanet:306692"} ! poisoning
intersection_of: MONDO:0021095 ! parkinsonian disorder
intersection_of: realized_in_response_to_stimulus CHEBI:17514 ! cyanide
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0017641
name: obsolete miscellaneous movement disorder due to neurodegenerative disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: movement disorder'
subset: ordo_group_of_disorders {source="Orphanet:306695"}
xref: GARD:21267 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306695 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005395

[Term]
id: MONDO:0017642
name: intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:3067"}
xref: ICD10CM:Q87.8 {source="Orphanet:3067", source="Orphanet:3067/attributed", source="Orphanet:3067/ntbt"}
xref: Orphanet:3067 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3067", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0017643
name: obsolete frontotemporal neurodegeneration with movement disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease'
subset: ordo_group_of_disorders {source="Orphanet:306708"}
xref: GARD:21268 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306708 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005559

[Term]
id: MONDO:0017644
name: obsolete rare tremor disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306712"}
xref: GARD:21269 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306712 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0017645
name: obsolete rare choreic movement disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306715"}
xref: GARD:21270 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306715 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0017646
name: obsolete neurodegenerative disease with chorea
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease'
subset: ordo_group_of_disorders {source="Orphanet:306719"}
xref: GARD:21271 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306719 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005559

[Term]
id: MONDO:0017647
name: obsolete postinfectious autoimmune disease with chorea
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoimmune disease'
subset: ordo_group_of_disorders {source="Orphanet:306727"}
xref: GARD:21272 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306727 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0007179

[Term]
id: MONDO:0017648
name: Sydenham chorea
def: "A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures." [GARD:0007716]
subset: gard_rare {source="GARD:7716", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:306731"}
subset: ordo_disorder {source="Orphanet:306731"}
subset: orphanet_rare {source="Orphanet:306731"}
subset: rare
xref: GARD:7716 {source="MONDO:GARD"}
xref: ICD10CM:I02.0 {source="Orphanet:306731/nd", source="Orphanet:306731"}
xref: ICD10CM:I02.9 {source="Orphanet:306731/nd", source="Orphanet:306731"}
xref: MedDRA:10042732 {source="Orphanet:306731/e", source="Orphanet:306731"}
xref: MEDGEN:57506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168445 {source="MONDO:equivalentTo"}
xref: Orphanet:306731 {source="MONDO:equivalentTo"}
xref: UMLS:C0152113 {source="MEDGEN:57506", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="GARD:0007716"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0017647 {source="Orphanet:306731", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete postinfectious autoimmune disease with chorea

[Term]
id: MONDO:0017649
name: hemidystonia-hemiatrophy syndrome
def: "Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD." [Orphanet:306741]
subset: gard_rare {source="GARD:21273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306741"}
subset: orphanet_rare {source="Orphanet:306741"}
subset: rare
synonym: "HD-HA syndrome" EXACT [Orphanet:306741]
xref: GARD:21273 {source="MONDO:GARD"}
xref: MEDGEN:1386711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306741 {source="MONDO:equivalentTo"}
xref: UMLS:C4510649 {source="MEDGEN:1386711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003441 {source="Orphanet:306741"} ! dystonic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019049"} ! rare

[Term]
id: MONDO:0017650
name: obsolete rare myoclonus
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306747"}
xref: GARD:21274 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306747 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005395

[Term]
id: MONDO:0017651
name: obsolete primary myoclonus
subset: ordo_group_of_disorders {source="Orphanet:306750"}
xref: GARD:21275 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306750 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017652
name: obsolete rare disease with myoclonus as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306753"}
xref: GARD:21276 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306753 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017653
name: obsolete epilepsy and/or ataxia with myoclonus as major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306756"}
xref: GARD:21277 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306756 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0017654
name: obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306759"}
xref: GARD:21278 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306759 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017655
name: obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature
subset: disease_grouping
xref: Orphanet:306762 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017656
name: obsolete motor stereotypies
subset: ordo_group_of_disorders {source="Orphanet:306765"}
xref: GARD:21279 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306765 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017657
name: obsolete rare paroxysmal movement disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:306768"}
xref: GARD:21280 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:306768 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017658
name: hyperekplexia
def: "A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia" [Wikipedia:Hyperekplexia]
subset: disease_grouping
subset: gard_rare {source="GARD:21281", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:306773"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21281 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="Orphanet:306773/ntbt"}
xref: MEDGEN:488800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000071017 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: Orphanet:306773 {source="MONDO:equivalentTo"}
xref: UMLS:C0234166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488800"}
is_a: MONDO:0005395 {source="Orphanet:306773"} ! movement disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015143"} ! rare

[Term]
id: MONDO:0017659
name: sporadic hyperekplexia
subset: gard_rare {source="GARD:21282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306776"}
subset: orphanet_rare {source="Orphanet:306776"}
subset: rare
xref: GARD:21282 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="Orphanet:306776/ntbt", source="Orphanet:306776"}
xref: MEDGEN:1683565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306776 {source="MONDO:equivalentTo"}
xref: UMLS:C5191042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683565"}
is_a: MONDO:0017658 {source="Orphanet:306776"} ! hyperekplexia

[Term]
id: MONDO:0017660
name: obsolete rare genetic parkinsonian disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:307052"}
synonym: "rare genetic hypokinetic movement disorder" EXACT [Orphanet:307052]
xref: GARD:21283 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:307052 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021095

[Term]
id: MONDO:0017661
name: obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:307055"}
xref: GARD:21284 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:307055 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017662
name: obsolete miscellaneous movement disorder due to genetic neurodegenerative disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: movement disorder'
subset: ordo_group_of_disorders {source="Orphanet:307058"}
xref: GARD:21285 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:307058 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005395

[Term]
id: MONDO:0017663
name: obsolete inherited tremor disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:307061", source="Orphanet:307064"}
synonym: "rare genetic myoclonus" EXACT [MONDO:0017664]
xref: GARD:21286 {source="MONDO:obsoleteEquivalent"}
xref: GARD:21287 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:307061 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:307064 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0005395

[Term]
id: MONDO:0017664
name: obsolete rare genetic myoclonus
is_obsolete: true
replaced_by: MONDO:0017663

[Term]
id: MONDO:0017665
name: obsolete rare genetic disease with myoclonus as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:307067"}
xref: GARD:21288 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:307067 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017666
name: diffuse palmoplantar keratoderma
def: "Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality." [https://dermnetnz.org/topics/diffuse-hereditary-palmoplantar-keratodermas, https://orcid.org/0000-0001-5208-3432]
subset: disease_grouping
subset: gard_rare {source="GARD:21289", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:307141"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse keratosis palmoplantaris" EXACT [Orphanet:307141]
synonym: "diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307141]
synonym: "diffuse PPK" EXACT [Orphanet:307141]
xref: GARD:21289 {source="MONDO:GARD"}
xref: HP:0007435
xref: ICD10CM:Q82.8 {source="Orphanet:307141", source="Orphanet:307141/attributed", source="Orphanet:307141/ntbt"}
xref: icd11.foundation:1259583500 {source="MONDO:equivalentTo", source="Orphanet:307141", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:7201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:307141 {source="MONDO:equivalentTo"}
xref: SCTID:400123002 {source="MONDO:equivalentTo"}
xref: UMLS:C0022584 {source="MEDGEN:7201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019272 {source="Orphanet:307141"} ! hereditary palmoplantar keratoderma

[Term]
id: MONDO:0017667
name: obsolete isolated diffuse palmoplantar keratoderma
def: "OBSOLETE. A diffuse palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:307148"}
synonym: "isolated diffuse keratosis palmoplantaris" EXACT [Orphanet:307148]
synonym: "isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307148]
synonym: "isolated diffuse PPK" EXACT [Orphanet:307148]
synonym: "nonsyndromic diffuse palmoplantar keratoderma" EXACT [MONDO:patterns/isolated]
xref: GARD:21290 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:307148/attributed", source="Orphanet:307148/ntbt", source="Orphanet:307148"}
xref: Orphanet:307148 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017668
name: intellectual disability-short stature-hypertelorism syndrome
def: "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." [Orphanet:3074]
subset: gard_rare {source="GARD:3514", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3074"}
subset: ordo_malformation_syndrome {source="Orphanet:3074"}
subset: orphanet_rare {source="Orphanet:3074"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual deficit - short stature - hypertelorism" RELATED [GARD:0003514]
synonym: "intellectual disability short stature hypertelorism" RELATED [GARD:0003514]
synonym: "mental retardation short stature hypertelorism" RELATED DEPRECATED [GARD:0003514]
synonym: "Stoll-GC)raudel-Chauvin syndrome" EXACT [GARD:0003514, Orphanet:3074]
synonym: "Stoll-Géraudel-Chauvin syndrome" RELATED [GARD:0003514]
xref: GARD:3514 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3074/attributed", source="Orphanet:3074/ntbt", source="Orphanet:3074"}
xref: MEDGEN:1665709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3074 {source="MONDO:equivalentTo", source="GARD:0003514"}
xref: UMLS:C4749650 {source="MEDGEN:1665709", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:3074"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3074", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3514/intellectual-deficit---short-stature---hypertelorism" xsd:anyURI {source="GARD:0003514"}

[Term]
id: MONDO:0017669
name: obsolete disease with diffuse palmoplantar keratoderma as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:307711"}
synonym: "disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307711]
xref: GARD:21291 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:307711/attributed", source="Orphanet:307711/ntbt", source="Orphanet:307711"}
xref: Orphanet:307711 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017670
name: obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma
subset: ordo_group_of_disorders {source="Orphanet:307773"}
synonym: "autosomal dominant diffuse mutilating palmoplantar hyperkeratosis" EXACT [Orphanet:307773]
xref: GARD:21292 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:307773", source="Orphanet:307773/attributed", source="Orphanet:307773/ntbt"}
xref: Orphanet:307773 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017671
name: obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:307804"}
synonym: "autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307804]
xref: GARD:21293 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:307804/attributed", source="Orphanet:307804/ntbt", source="Orphanet:307804"}
xref: Orphanet:307804 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017672
name: focal palmoplantar keratoderma
subset: disease_grouping
subset: gard_rare {source="GARD:21294", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:307837"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "focal keratosis palmoplantaris" EXACT [Orphanet:307837]
synonym: "focal palmoplantar hyperkeratosis" EXACT [Orphanet:307837]
synonym: "focal PPK" EXACT [Orphanet:307837]
xref: GARD:21294 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:307837/attributed", source="Orphanet:307837/ntbt", source="Orphanet:307837"}
xref: icd11.foundation:1676945961 {source="Orphanet:307837", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:419939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:307837 {source="MONDO:equivalentTo"}
xref: UMLS:C2931923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419939"}
is_a: MONDO:0019272 {source="Orphanet:307837"} ! hereditary palmoplantar keratoderma

[Term]
id: MONDO:0017673
name: obsolete isolated focal palmoplantar keratoderma
def: "OBSOLETE. A focal palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:307846"}
synonym: "isolated focal keratosis palmoplantaris" EXACT [Orphanet:307846]
synonym: "isolated focal palmoplantar hyperkeratosis" EXACT [Orphanet:307846]
synonym: "isolated focal PPK" EXACT [Orphanet:307846]
synonym: "nonsyndromic focal palmoplantar keratoderma" EXACT [MONDO:patterns/isolated]
xref: GARD:21295 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:307846/attributed", source="Orphanet:307846/ntbt", source="Orphanet:307846"}
xref: Orphanet:307846 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017674
name: obsolete disease with focal palmoplantar keratoderma as a major feature
def: "OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature.." [https://orcid.org/0000-0002-6601-2165]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:307871"}
synonym: "disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307871]
xref: GARD:21296 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:307871/attributed", source="Orphanet:307871/ntbt", source="Orphanet:307871"}
xref: Orphanet:307871 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017675
name: punctate palmoplantar keratoderma
def: "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." [DOID:0060361, Wikipedia:Palmoplantar_keratoderma#Punctate]
subset: disease_grouping
subset: gard_rare {source="GARD:21297", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:307967"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "punctate keratosis palmoplantaris" EXACT [DOID:0060361, Orphanet:307967]
synonym: "punctate palmoplantar hyperkeratosis" EXACT [DOID:0060361, Orphanet:307967]
synonym: "punctate PPK" EXACT [Orphanet:307967]
xref: DOID:0060361 {source="MONDO:equivalentTo"}
xref: GARD:21297 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:307967/attributed", source="Orphanet:307967/ntbt", source="Orphanet:307967"}
xref: MEDGEN:870406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:307967 {source="MONDO:equivalentTo", source="DOID:0060361"}
xref: SCTID:402773000 {source="MONDO:equivalentTo", source="DOID:0060361"}
xref: UMLS:C4024851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:870406"}
is_a: MONDO:0019272 {source="Orphanet:307967"} ! hereditary palmoplantar keratoderma

[Term]
id: MONDO:0017676
name: obsolete marginal papular palmoplantar keratoderma
subset: ordo_group_of_disorders {source="Orphanet:307995"}
synonym: "marginal papular palmoplantar hyperkeratosis" EXACT [Orphanet:307995]
xref: GARD:21298 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:307995/attributed", source="Orphanet:307995/ntbt", source="Orphanet:307995"}
xref: Orphanet:307995 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017677
name: focal acral hyperkeratosis
subset: gard_rare {source="GARD:21299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:308013"}
subset: orphanet_rare {source="Orphanet:308013"}
subset: rare
synonym: "PPKP3 without elastoidosis" EXACT [Orphanet:308013]
synonym: "PPPK3 without elastoidosis" EXACT [Orphanet:308013]
synonym: "punctate palmoplantar hyperkeratosis type 3 without elastoidosis" EXACT [Orphanet:308013]
synonym: "punctate palmoplantar keratoderma type 3 without elastoidosis" EXACT [Orphanet:308013]
xref: GARD:21299 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:308013", source="Orphanet:308013/attributed", source="Orphanet:308013/ntbt"}
xref: MEDGEN:724380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308013 {source="MONDO:equivalentTo"}
xref: SCTID:400115004 {source="MONDO:equivalentTo"}
xref: UMLS:C1302839 {source="MEDGEN:724380", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0017675 {source="https://orcid.org/0000-0001-5208-3432"} ! punctate palmoplantar keratoderma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0017678
name: obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature
def: "OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major feature.." [https://orcid.org/0000-0002-6601-2165]
comment: This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature.
subset: ordo_group_of_disorders {source="Orphanet:308023"}
synonym: "disease with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308023]
xref: GARD:21300 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:308023 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017679
name: obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
comment: This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature.
subset: ordo_group_of_disorders {source="Orphanet:308031"}
synonym: "autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308031]
xref: GARD:21301 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:308031 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2317" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017680
name: obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
subset: ordo_group_of_disorders {source="Orphanet:308041"}
synonym: "autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308041]
xref: GARD:21302 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:308041 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2317" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017681
name: obsolete erythrokeratoderma variabilis progressiva
subset: otar {source="MONDO:OTAR"}
xref: GARD:10923 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6534" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017851

[Term]
id: MONDO:0017682
name: intellectual disability-polydactyly-uncombable hair syndrome
def: "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported." [Orphanet:3082]
subset: gard_rare {source="GARD:3141", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3082"}
subset: ordo_malformation_syndrome {source="Orphanet:3082"}
subset: orphanet_rare {source="Orphanet:3082"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair" RELATED [GARD:0003141]
synonym: "Kozlowski-Krajewska syndrome" EXACT [Orphanet:3082]
synonym: "mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair" RELATED DEPRECATED [GARD:0003141]
xref: GARD:3141 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:3082", source="Orphanet:3082/attributed", source="Orphanet:3082/ntbt"}
xref: MEDGEN:444082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537615 {source="MONDO:equivalentTo"}
xref: Orphanet:3082 {source="MONDO:equivalentTo"}
xref: UMLS:C2931547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444082"}
is_a: MONDO:0015159 {source="Orphanet:3082"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3082", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017683
name: methylcobalamin deficiency type cblDv1
subset: gard_rare {source="GARD:17385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "functional methionine synthase deficiency type cblDv1" EXACT [Orphanet:308380]
xref: GARD:17385 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:308380/attributed", source="Orphanet:308380/ntbt", source="Orphanet:308380"}
xref: MEDGEN:1826168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308380 {source="MONDO:equivalentTo"}
xref: UMLS:C5679956 {source="MEDGEN:1826168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018964 {source="Orphanet:308380"} ! homocystinuria without methylmalonic aciduria
is_a: MONDO:0100463 {source="https://orcid.org/0000-0002-5655-9589"} ! methylmalonic aciduria and/or homocystinuria, cblD type

[Term]
id: MONDO:0017684
name: disorder of beta and omega amino acid metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21303", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:308407"}
subset: rare
xref: GARD:21303 {source="MONDO:GARD"}
xref: icd11.foundation:446569334 {source="Orphanet:308407", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308407 {source="MONDO:equivalentTo"}
xref: SCTID:237940008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342707 {source="MEDGEN:575186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019189 {source="Orphanet:308407"} ! inborn disorder of amino acid and other organic acid metabolism

[Term]
id: MONDO:0017685
name: vitamin B12-responsive methylmalonic acidemia, type cblDv2
subset: gard_rare {source="GARD:17391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308442"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "vitamin B12-responsive methylmalonic aciduria, type cblDv2" EXACT [Orphanet:308442]
xref: GARD:17391 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:308442", source="Orphanet:308442/attributed", source="Orphanet:308442/ntbt"}
xref: MEDGEN:376388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308442 {source="MONDO:equivalentTo"}
xref: UMLS:C1848554 {source="MONDO:equivalentTo", source="MEDGEN:376388", source="MONDO:MEDGEN"}
is_a: MONDO:0017214 {source="Orphanet:308442"} ! vitamin B12-responsive methylmalonic acidemia
is_a: MONDO:0100463 {source="https://orcid.org/0000-0002-5655-9589"} ! methylmalonic aciduria and/or homocystinuria, cblD type

[Term]
id: MONDO:0017686
name: inborn aminoacylase deficiency
def: "An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:21304", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:308448"}
subset: rare
synonym: "aminoacylase deficiency" RELATED [Orphanet:308448]
synonym: "inborn aminoacylase activity disorder" EXACT []
synonym: "inborn error of aminoacylase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of aminoacylase activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21304 {source="MONDO:GARD"}
xref: MEDGEN:1842952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308448 {source="MONDO:equivalentTo"}
xref: UMLS:C5681074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842952"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0004046 ! aminoacylase activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0017687
name: disorder of neutral amino acid transport
def: "An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:21305", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:308451"}
subset: rare
synonym: "inborn error of neutral amino acid transport" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn neutral amino acid transport disorder" EXACT []
synonym: "rare inborn error of neutral amino acid transport" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21305 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:308451", source="Orphanet:308451/attributed", source="Orphanet:308451/ntbt"}
xref: Orphanet:308451 {source="MONDO:equivalentTo"}
is_a: MONDO:0019216 {source="Orphanet:308451"} ! inborn disorder of amino acid transport
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0015804 ! neutral amino acid transport

[Term]
id: MONDO:0017688
name: disorder of glycolysis
subset: disease_grouping
subset: gard_rare {source="GARD:21306", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:308459"}
subset: rare
xref: GARD:21306 {source="MONDO:GARD"}
xref: MEDGEN:1825948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308459 {source="MONDO:equivalentTo"}
xref: UMLS:C5681073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825948"}
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308459", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder
intersection_of: MONDO:0019214 ! inborn carbohydrate metabolic disorder
intersection_of: disease_has_basis_in_disruption_of GO:0006096 ! glycolytic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017689
name: disorder of fructose metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21307", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:308463"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21307 {source="MONDO:GARD"}
xref: ICD10CM:E74.1 {source="Orphanet:308463/specific", source="Orphanet:308463", source="Orphanet:308463/e"}
xref: icd11.foundation:596254627 {source="MONDO:equivalentTo", source="Orphanet:308463", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:575202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308463 {source="MONDO:equivalentTo"}
xref: SCTID:39452003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342744 {source="MONDO:equivalentTo", source="MEDGEN:575202", source="MONDO:MEDGEN"}
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308463"} ! inborn carbohydrate metabolic disorder
intersection_of: MONDO:0019214 ! inborn carbohydrate metabolic disorder
intersection_of: disease_has_basis_in_disruption_of GO:0006000 ! fructose metabolic process

[Term]
id: MONDO:0017690
name: disorder of galactose metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21308", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:308467"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21308 {source="MONDO:GARD"}
xref: ICD10CM:E74.2 {source="Orphanet:308467/specific", source="Orphanet:308467/e", source="Orphanet:308467"}
xref: icd11.foundation:1462194012 {source="MONDO:equivalentTo", source="Orphanet:308467", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:575203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308467 {source="MONDO:equivalentTo"}
xref: SCTID:237963003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342745 {source="MEDGEN:575203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:308467"} ! inborn carbohydrate metabolic disorder
intersection_of: MONDO:0019214 ! inborn carbohydrate metabolic disorder
intersection_of: disease_has_basis_in_disruption_of GO:0006012 ! galactose metabolic process

[Term]
id: MONDO:0017691
name: erythrocyte galactose epimerase deficiency
subset: gard_rare {source="GARD:17392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythrocyte epimerase deficiency galactosemia" EXACT [Orphanet:308473]
synonym: "erythrocyte GALE deficiency" EXACT [Orphanet:308473]
synonym: "erythrocyte GALE-D" EXACT [Orphanet:308473]
synonym: "erythrocyte UDP-galactose-4-epimerase deficiency" EXACT [Orphanet:308473]
synonym: "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:308473]
xref: GARD:17392 {source="MONDO:GARD"}
xref: ICD10CM:E74.2 {source="Orphanet:308473", source="Orphanet:308473/attributed", source="Orphanet:308473/ntbt"}
xref: MEDGEN:657805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308473 {source="MONDO:equivalentTo"}
xref: SCTID:297238008 {source="MONDO:equivalentTo"}
xref: UMLS:C0574090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:657805"}
is_a: MONDO:0009257 {source="Orphanet:308473"} ! galactose epimerase deficiency
is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017692
name: generalized galactose epimerase deficiency
subset: gard_rare {source="GARD:17393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308487"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "generalised epimerase deficiency galactosemia" EXACT OMO:0003005 []
synonym: "generalised GALE deficiency" EXACT OMO:0003005 []
synonym: "generalised GALE-D" EXACT OMO:0003005 []
synonym: "generalised UDP-galactose-4-epimerase deficiency" EXACT OMO:0003005 []
synonym: "generalised uridine diphosphate galactose-4-epimerase deficiency" EXACT OMO:0003005 []
synonym: "generalized epimerase deficiency galactosemia" EXACT [Orphanet:308487]
synonym: "generalized GALE deficiency" EXACT [Orphanet:308487]
synonym: "generalized GALE-D" EXACT [Orphanet:308487]
synonym: "generalized UDP-galactose-4-epimerase deficiency" EXACT [Orphanet:308487]
synonym: "generalized uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:308487]
xref: GARD:17393 {source="MONDO:GARD"}
xref: ICD10CM:E74.2 {source="Orphanet:308487/attributed", source="Orphanet:308487/ntbt", source="Orphanet:308487"}
xref: MEDGEN:657804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308487 {source="MONDO:equivalentTo"}
xref: SCTID:297237003 {source="MONDO:equivalentTo"}
xref: UMLS:C0574089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:657804"}
is_a: MONDO:0009257 {source="Orphanet:308487"} ! galactose epimerase deficiency
is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017693
name: obsolete glycogen storage disease due to glycogen synthase deficiency
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease'
subset: ordo_group_of_disorders {source="Orphanet:308520"}
synonym: "glycogen storage disease type 0" EXACT [Wikipedia:Glycogen_storage_disease_type_0]
synonym: "glycogenosis due to glycogen synthase deficiency" EXACT [Orphanet:308520]
synonym: "GSD due to glycogen synthase deficiency" EXACT [Orphanet:308520]
synonym: "GSD0" EXACT ABBREVIATION [Wikipedia:Glycogen_storage_disease_type_0]
xref: GARD:21309 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E74.0 {source="Orphanet:308520/attributed", source="Orphanet:308520/ntbt", source="Orphanet:308520"}
xref: NANDO:1200824 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:308520 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002412

[Term]
id: MONDO:0017694
name: glycogen storage disease due to acid maltase deficiency, infantile onset
def: "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." [Orphanet:308552]
subset: gard_rare {source="GARD:21310", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308552"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-1,4-glucosidase acid deficiency, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogen storage disease type 2, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogen storage disease type II, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogenosis due to acid maltase deficiency, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogenosis type 2, infantile onset" EXACT [Orphanet:308552]
synonym: "glycogenosis type II, infantile onset" EXACT [Orphanet:308552]
synonym: "GSD due to acid maltase deficiency, infantile onset" EXACT [Orphanet:308552]
synonym: "GSD type 2, infantile onset" EXACT [Orphanet:308552]
synonym: "GSD type II, infantile onset" EXACT [Orphanet:308552]
synonym: "Pompe disease, infantile onset" EXACT [Orphanet:308552]
xref: GARD:21310 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:308552", source="Orphanet:308552/attributed", source="Orphanet:308552/ntbt"}
xref: MEDGEN:923868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200139 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201229 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:308552 {source="MONDO:equivalentTo"}
xref: SCTID:722302009 {source="MONDO:equivalentTo"}
xref: UMLS:C3888924 {source="MEDGEN:923868", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009290 {source="Orphanet:308552"} ! glycogen storage disease II

[Term]
id: MONDO:0017695
name: glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
subset: gard_rare {source="GARD:17394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308621"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GBE deficiency, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogen storage disease type 4, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogen storage disease type IV, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogenosis type 4, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "glycogenosis type IV, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "GSD due to glycogen branching enzyme deficiency, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "GSD type 4, progressive hepatic form" EXACT [Orphanet:308621]
synonym: "GSDIV, progressive hepatic form" EXACT [Orphanet:308621]
xref: GARD:17394 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:308621/attributed", source="Orphanet:308621/ntbt", source="Orphanet:308621"}
xref: MEDGEN:1826169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201159 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:308621 {source="MONDO:equivalentTo"}
xref: UMLS:C5679972 {source="MEDGEN:1826169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0009292 {source="Orphanet:308621"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017696
name: glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
subset: gard_rare {source="GARD:17395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308638"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GBE deficiency, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogen storage disease type 4, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogen storage disease type IV, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogenosis type 4, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "glycogenosis type IV, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "GSD due to glycogen branching enzyme deficiency, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "GSD type 4, non progressive hepatic form" EXACT [Orphanet:308638]
synonym: "GSDIV, non progressive hepatic form" EXACT [Orphanet:308638]
xref: GARD:17395 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:308638/attributed", source="Orphanet:308638/ntbt", source="Orphanet:308638"}
xref: MEDGEN:344701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201160 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:308638 {source="MONDO:equivalentTo"}
xref: UMLS:C1856302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344701"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0009292 {source="Orphanet:308638"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017697
name: glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
subset: gard_rare {source="GARD:17396", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308655"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GBE deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogen storage disease type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogen storage disease type IV, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogenosis type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "glycogenosis type IV, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "GSD type 4, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
synonym: "GSDIV, fatal perinatal neuromuscular form" EXACT [Orphanet:308655]
xref: GARD:17396 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:308655/attributed", source="Orphanet:308655/ntbt", source="Orphanet:308655"}
xref: MEDGEN:383883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201161 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:308655 {source="MONDO:equivalentTo"}
xref: UMLS:C1856303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383883"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0009292 {source="Orphanet:308655"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017698
name: glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
subset: gard_rare {source="GARD:17397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308670"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GBE deficiency, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogen storage disease type 4, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogen storage disease type IV, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogenosis type 4, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "glycogenosis type IV, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "GSD type 4, congenital neuromuscular form" EXACT [Orphanet:308670]
synonym: "GSDIV, congenital neuromuscular form" EXACT [Orphanet:308670]
xref: GARD:17397 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:308670", source="Orphanet:308670/attributed", source="Orphanet:308670/ntbt"}
xref: MEDGEN:343523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308670 {source="MONDO:equivalentTo"}
xref: UMLS:C1856304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343523"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0009292 {source="Orphanet:308670"} ! glycogen storage disease due to glycogen branching enzyme deficiency
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017699
name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
subset: gard_rare {source="GARD:17398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308684"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GBE deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogen storage disease type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogen storage disease type IV, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogenosis type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "glycogenosis type IV, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "GSD type 4, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
synonym: "GSDIV, childhood combined hepatic and myopathic form" EXACT [Orphanet:308684]
xref: GARD:17398 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:308684", source="Orphanet:308684/attributed", source="Orphanet:308684/ntbt"}
xref: MedDRA:10053250 {source="Orphanet:308684", source="Orphanet:308684/e"}
xref: MEDGEN:1842442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201162 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:308684 {source="MONDO:equivalentTo"}
xref: UMLS:C5679969 {source="MONDO:equivalentTo", source="MEDGEN:1842442", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0009292 {source="Orphanet:308684"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017700
name: glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
subset: gard_rare {source="GARD:17399", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308698"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GBE deficiency, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogen storage disease type 4, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogen storage disease type IV, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogenosis type 4, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "glycogenosis type IV, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "GSD type 4, childhood neuromuscular form" EXACT [Orphanet:308698]
synonym: "GSDIV, childhood neuromuscular form" EXACT [Orphanet:308698]
xref: GARD:17399 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:308698/attributed", source="Orphanet:308698/ntbt", source="Orphanet:308698"}
xref: MEDGEN:343524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308698 {source="MONDO:equivalentTo"}
xref: UMLS:C1856305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343524"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0009292 {source="Orphanet:308698"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017701
name: glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
subset: gard_rare {source="GARD:17400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:308712"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GBE deficiency, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogen storage disease type 4, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogen storage disease type IV, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogenosis type 4, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "glycogenosis type IV, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "GSD due to glycogen branching enzyme deficiency, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "GSD type 4, adult neuromuscular form" EXACT [Orphanet:308712]
synonym: "GSDIV, adult neuromuscular form" EXACT [Orphanet:308712]
xref: GARD:17400 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:308712/attributed", source="Orphanet:308712/ntbt", source="Orphanet:308712"}
xref: MEDGEN:343525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308712 {source="MONDO:equivalentTo"}
xref: UMLS:C1856306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343525"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0009292 {source="Orphanet:308712"} ! glycogen storage disease due to glycogen branching enzyme deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017702
name: obsolete glycerol kinase deficiency
is_obsolete: true
replaced_by: MONDO:0010613

[Term]
id: MONDO:0017703
name: disorder of glyoxylate metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21312", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:308998"}
subset: rare
synonym: "disorder of glyoxylate metabolism" EXACT CLINGEN_LABEL [Orphanet:308998]
xref: GARD:21312 {source="MONDO:GARD"}
xref: icd11.foundation:1800430868 {source="MONDO:equivalentTo", source="Orphanet:308998", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:308998 {source="MONDO:equivalentTo"}
xref: UMLS:C5681070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842247"}
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
relationship: excluded_subClassOf MONDO:0019214 {source="Orphanet:308998", source="https://github.com/monarch-initiative/mondo/issues/2632", source="https://orcid.org/0000-0001-5208-3432"} ! inborn carbohydrate metabolic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0017704
name: familial partial epilepsy
def: "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:2173", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, partial, familial" RELATED [GARD:0002173]
synonym: "hereditary partial epilepsy" EXACT [MONDO:patterns/hereditary]
xref: GARD:2173 {source="MONDO:GARD"}
xref: ICD10CM:G40.1 {source="Orphanet:309", source="Orphanet:309/attributed", source="Orphanet:309/ntbt"}
xref: MEDGEN:1826100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309 {source="MONDO:equivalentTo"}
xref: UMLS:C5680862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826100"}
is_a: MONDO:0020072 {source="Orphanet:309"} ! childhood-onset epilepsy syndrome
is_a: MONDO:0020073 {source="Orphanet:309"} ! adolescent-onset epilepsy syndrome
intersection_of: MONDO:0005384 ! focal epilepsy
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial" xsd:anyURI {source="GARD:0002173"}

[Term]
id: MONDO:0017705
name: congenital pulmonary venous return anomaly
def: "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous." [Orphanet:3090]
subset: disease_grouping
subset: gard_rare {source="GARD:4599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:3090"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anomalous pulmonary venous return" RELATED [GARD:0004599]
synonym: "APVR" RELATED ABBREVIATION [GARD:0004599]
synonym: "congenital pulmonary venous connection anomaly" EXACT [Orphanet:3090]
synonym: "pulmonary venous return anomaly" RELATED [GARD:0004599]
synonym: "scimitar anomaly" RELATED [GARD:0004599]
synonym: "scimitar syndrome" RELATED [GARD:0004599]
synonym: "TAPVR" RELATED ABBREVIATION [GARD:0004599]
synonym: "TAPVR1" RELATED ABBREVIATION [GARD:0004599]
synonym: "total anomalous pulmonary venous return" RELATED [GARD:0004599]
xref: GARD:4599 {source="MONDO:GARD"}
xref: ICD10CM:Q26.2 {source="Orphanet:3090", source="Orphanet:3090/btnt"}
xref: ICD10CM:Q26.3 {source="Orphanet:3090", source="Orphanet:3090/btnt"}
xref: ICD10CM:Q26.4 {source="Orphanet:3090", source="Orphanet:3090/btnt"}
xref: MEDGEN:539577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3090 {source="GARD:0004599", source="MONDO:equivalentTo"}
xref: UMLS:C0265916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539577"}
is_a: MONDO:0020295 {source="Orphanet:3090"} ! congenital pulmonary veins anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017706
name: disorder of carbohydrate transmembrane transport and absorption
subset: disease_grouping
subset: gard_rare {source="GARD:21313", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309001"}
subset: rare
synonym: "disorder of carbohydrate absorption and transport" EXACT [Orphanet:309001]
xref: GARD:21313 {source="MONDO:GARD"}
xref: icd11.foundation:1315315105 {source="MONDO:equivalentTo", source="Orphanet:309001", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309001 {source="MONDO:equivalentTo"}
xref: UMLS:C5681069 {source="MEDGEN:1842168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019214 {source="Orphanet:309001", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017707
name: obsolete disorder of lipid metabolism
is_obsolete: true
replaced_by: MONDO:0002525

[Term]
id: MONDO:0017708
name: mevalonate kinase deficiency
subset: disease_grouping
subset: gard_rare {source="GARD:21315", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1260", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:309025"}
subset: orphanet_rare {source="Orphanet:309025"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21315 {source="MONDO:GARD"}
xref: MedDRA:10072221 {source="Orphanet:309025", source="Orphanet:309025/e"}
xref: MEDGEN:87453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054078 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:2200436 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1260 {source="MONDO:NORD"}
xref: Orphanet:309025 {source="MONDO:equivalentTo"}
xref: UMLS:C0342731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87453"}
is_a: MONDO:0017953 {source="Orphanet:309025"} ! hereditary periodic fever syndrome
is_a: MONDO:0019240 {source="Orphanet:309025"} ! sterol biosynthesis disorder
is_a: MONDO:0019751 ! autoinflammatory syndrome

[Term]
id: MONDO:0017709
name: obsolete disorder of lipid absorption and transport
subset: ordo_group_of_disorders {source="Orphanet:309028"}
xref: GARD:21316 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1858691234 {source="MONDO:obsoleteEquivalent", source="Orphanet:309028", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:309028 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017710
name: obsolete congenital systemic veins anomaly
subset: ordo_group_of_disorders {source="Orphanet:3091"}
xref: GARD:18785 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:3091 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017711
name: pancreatic colipase deficiency
subset: gard_rare {source="GARD:17402", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:309108"}
subset: orphanet_rare {source="Orphanet:309108"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17402 {source="MONDO:GARD"}
xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="Orphanet:309108/attributed", source="Orphanet:309108/ntbt", source="Orphanet:309108"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:452357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309108 {source="MONDO:equivalentTo"}
xref: SCTID:69478001 {source="MONDO:equivalentTo"}
xref: UMLS:C0268241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452357"}
is_a: MONDO:0013700 ! pancreatic triacylglycerol lipase deficiency

[Term]
id: MONDO:0017712
name: combined pancreatic lipase-colipase deficiency
def: "A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." [https://orcid.org/0000-0001-5208-3432, Orphanet:309111]
subset: gard_rare {source="GARD:17403", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:309111"}
subset: orphanet_rare {source="Orphanet:309111"}
subset: rare
xref: GARD:17403 {source="MONDO:GARD"}
xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="Orphanet:309111", source="Orphanet:309111/attributed", source="Orphanet:309111/ntbt"}
xref: MEDGEN:1631148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309111 {source="MONDO:equivalentTo"}
xref: UMLS:C4706317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631148"}
is_a: MONDO:0013700 ! pancreatic triacylglycerol lipase deficiency

[Term]
id: MONDO:0017713
name: disorder of fatty acid oxidation and ketogenesis
subset: disease_grouping
subset: gard_rare {source="GARD:21317", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309115"}
subset: rare
xref: GARD:21317 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:309115", source="Orphanet:309115/attributed", source="Orphanet:309115/ntbt"}
xref: icd11.foundation:1861994414 {source="MONDO:equivalentTo", source="Orphanet:309115", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1843280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309115 {source="MONDO:equivalentTo"}
xref: UMLS:C5681071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843280"}
is_a: MONDO:0019223 {source="Orphanet:309115"} ! disorder of fatty acid and ketone body metabolism
relationship: disease_has_basis_in_disruption_of GO:0019395 ! fatty acid oxidation

[Term]
id: MONDO:0017714
name: acyl-CoA dehydrogenase deficiency
subset: disease_grouping
subset: gard_rare {source="GARD:21318", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21318 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:309120/attributed", source="Orphanet:309120/ntbt", source="Orphanet:309120"}
xref: MEDGEN:541378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309120 {source="MONDO:equivalentTo"}
xref: SCTID:82319005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268635 {source="MEDGEN:541378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017713 {source="Orphanet:309120"} ! disorder of fatty acid oxidation and ketogenesis

[Term]
id: MONDO:0017715
name: 3-hydroxyacyl-CoA dehydrogenase deficiency
subset: disease_grouping
subset: gard_rare {source="GARD:21319", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309127"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21319 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:309127/attributed", source="Orphanet:309127/ntbt", source="Orphanet:309127"}
xref: MEDGEN:266222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535310 {source="MONDO:equivalentTo"}
xref: OMIM:231530 {source="Orphanet:71212", source="MONDO:equivalentTo", source="GARD:0009870", source="Orphanet:71212/e"}
xref: Orphanet:309127 {source="MONDO:equivalentTo"}
xref: UMLS:C1291230 {source="MEDGEN:266222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017713 {source="Orphanet:309127"} ! disorder of fatty acid oxidation and ketogenesis

[Term]
id: MONDO:0017716
name: disorder of carnitine cycle and carnitine transport
subset: disease_grouping
subset: gard_rare {source="GARD:21320", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309130"}
subset: rare
xref: GARD:21320 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:309130/attributed", source="Orphanet:309130/ntbt", source="Orphanet:309130"}
xref: icd11.foundation:890605309 {source="Orphanet:309130", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200969 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309130 {source="MONDO:equivalentTo"}
xref: UMLS:C5681080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842227"}
is_a: MONDO:0019223 {source="Orphanet:309130"} ! disorder of fatty acid and ketone body metabolism

[Term]
id: MONDO:0017717
name: obsolete metabolic disease due to other fatty acid oxidation disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:309133"}
xref: GARD:21321 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E71.3 {source="Orphanet:309133", source="Orphanet:309133/attributed", source="Orphanet:309133/ntbt"}
xref: Orphanet:309133 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0017718
name: obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:309136"}
xref: GARD:21322 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:2200522 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309136 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0004069

[Term]
id: MONDO:0017719
name: gangliosidosis
def: "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." [MESH:D005733]
subset: disease_grouping
subset: gard_rare {source="GARD:12510", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309144"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mucolipidosis type IV" RELATED EXCLUDE [DOID:2368]
xref: DOID:2368 {source="MONDO:equivalentTo"}
xref: GARD:12510 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309144", source="Orphanet:309144/specific", source="Orphanet:309144/btnt"}
xref: ICD10CM:E75.1 {source="Orphanet:309144", source="Orphanet:309144/specific", source="Orphanet:309144/btnt"}
xref: ICD10CM:E75.10 {source="DOID:2368"}
xref: icd11.foundation:797306953 {source="MONDO:equivalentTo", source="Orphanet:309144"}
xref: MEDGEN:42149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005733 {source="DOID:2368"}
xref: Orphanet:309144 {source="MONDO:equivalentTo"}
xref: SCTID:50967008 {source="MONDO:equivalentTo", source="DOID:2368"}
xref: UMLS:C0017083 {source="MEDGEN:42149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019255 {source="DOID:2368", source="MONDO:0018299-obsoleted", source="Orphanet:309144"} ! sphingolipidosis

[Term]
id: MONDO:0017720
name: GM2 gangliosidosis
def: "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." [Orphanet:309152]
subset: disease_grouping
subset: gard_rare {source="GARD:21323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:309152"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gangliosidosis GM2" EXACT [MONDO:0002608]
synonym: "GM2-gangliosidosis, B, B1, AB variant" RELATED [GARD:0002522]
synonym: "GM>2< gangliosidosis" EXACT [DOID:3321]
xref: DOID:3321 {source="MONDO:equivalentTo"}
xref: GARD:21323 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo", source="Orphanet:309152/specific", source="Orphanet:309152/e"}
xref: ICD10CM:E75.00 {source="DOID:3321"}
xref: MEDGEN:78656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020143 {source="DOID:3321", source="MONDO:equivalentTo"}
xref: NANDO:1200070 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200559 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309152 {source="MONDO:equivalentTo"}
xref: SCTID:33316007 {source="DOID:3321", source="MONDO:equivalentTo"}
xref: UMLS:C0268274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78656"}
is_a: MONDO:0017719 {source="DOID:3321", source="Orphanet:309152"} ! gangliosidosis
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:309152"} ! inherited neurodegenerative disorder

[Term]
id: MONDO:0017721
name: Sandhoff disease, infantile form
subset: gard_rare {source="GARD:7604", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309155"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hexosaminidases A and B deficiency, infantile form" EXACT [Orphanet:309155]
synonym: "infantile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309155]
xref: GARD:7604 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309155", source="Orphanet:309155/attributed", source="Orphanet:309155/ntbt"}
xref: MEDGEN:199669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309155 {source="MONDO:equivalentTo"}
xref: UMLS:C0751490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199669"}
is_a: MONDO:0010006 {source="Orphanet:309155"} ! Sandhoff disease

[Term]
id: MONDO:0017722
name: Sandhoff disease, juvenile form
subset: gard_rare {source="GARD:17404", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309162"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hexosaminidases A and B deficiency, juvenile form" EXACT [Orphanet:309162]
synonym: "juvenile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309162]
xref: GARD:17404 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309162", source="Orphanet:309162/attributed", source="Orphanet:309162/ntbt"}
xref: MEDGEN:148320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309162 {source="MONDO:equivalentTo"}
xref: UMLS:C0751491 {source="MEDGEN:148320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010006 {source="Orphanet:309162"} ! Sandhoff disease

[Term]
id: MONDO:0017723
name: Sandhoff disease, adult form
def: "A Sandhoff disease that occurs in an adult." [MONDO:design_pattern]
subset: gard_rare {source="GARD:17405", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult GM2 gangliosidosis 0 variant" EXACT [Orphanet:309169]
synonym: "adult Sandhoff disease" EXACT [MONDO:design_pattern]
synonym: "Hexosaminidases A and B deficiency, adult form" EXACT [Orphanet:309169]
synonym: "Sandhoff disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:17405 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309169/attributed", source="Orphanet:309169/ntbt", source="Orphanet:309169"}
xref: MEDGEN:148319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309169 {source="MONDO:equivalentTo"}
xref: UMLS:C0751489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148319"}
is_a: MONDO:0010006 {source="MONDO:Redundant", source="Orphanet:309169"} ! Sandhoff disease
intersection_of: MONDO:0010006 ! Sandhoff disease
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0017724
name: Tay-Sachs disease, b variant, infantile form
subset: gard_rare {source="GARD:21324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309178"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GM2 gangliosidosis, B variant, infantile form" EXACT [Orphanet:309178]
synonym: "hexosaminidase A deficiency, infantile form" EXACT [Orphanet:309178]
xref: GARD:21324 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309178", source="Orphanet:309178/attributed", source="Orphanet:309178/ntbt"}
xref: MEDGEN:1842824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309178 {source="MONDO:equivalentTo"}
xref: UMLS:C5679976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842824"}
is_a: MONDO:0010100 {source="Orphanet:309178", source="https://orcid.org/0000-0001-5208-3432"} ! Tay-Sachs disease

[Term]
id: MONDO:0017725
name: Tay-Sachs disease, b variant, juvenile form
subset: gard_rare {source="GARD:21325", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309185"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GM2 gangliosidosis, B variant, juvenile form" EXACT [Orphanet:309185]
synonym: "hexosaminidase A deficiency, juvenile form" EXACT [Orphanet:309185]
xref: GARD:21325 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309185/attributed", source="Orphanet:309185/ntbt", source="Orphanet:309185"}
xref: MEDGEN:1842854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309185 {source="MONDO:equivalentTo"}
xref: UMLS:C5679975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842854"}
is_a: MONDO:0010100 {source="Orphanet:309185", source="https://orcid.org/0000-0001-5208-3432"} ! Tay-Sachs disease

[Term]
id: MONDO:0017726
name: Tay-Sachs disease, B variant, adult form
subset: gard_rare {source="GARD:21326", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309192"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GM2 gangliosidosis, B variant, adult form" EXACT [Orphanet:309192]
synonym: "hexosaminidase A deficiency, adult form" EXACT [Orphanet:309192]
xref: GARD:21326 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309192", source="Orphanet:309192/attributed", source="Orphanet:309192/ntbt"}
xref: MEDGEN:336450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309192 {source="MONDO:equivalentTo"}
xref: UMLS:C1848914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336450"}
is_a: MONDO:0010100 {source="Orphanet:309192", source="https://orcid.org/0000-0001-5208-3432"} ! Tay-Sachs disease

[Term]
id: MONDO:0017727
name: fixed subaortic stenosis
def: "Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form." [Orphanet:3092]
subset: gard_rare {source="GARD:16619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3092"}
subset: ordo_morphological_anomaly {source="Orphanet:3092"}
subset: orphanet_rare {source="Orphanet:3092"}
subset: rare
xref: GARD:16619 {source="MONDO:GARD"}
xref: ICD10CM:Q24.4 {source="Orphanet:3092", source="Orphanet:3092/e"}
xref: MEDGEN:539538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3092 {source="MONDO:equivalentTo"}
xref: UMLS:C0265853 {source="MEDGEN:539538", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017728
name: Tay-Sachs disease, B1 variant
subset: gard_rare {source="GARD:21327", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GM2 gangliosidosis, B1 variant" EXACT [Orphanet:309239]
synonym: "hexosaminidase A deficiency, B1 variant" EXACT [Orphanet:309239]
xref: GARD:21327 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:309239/attributed", source="Orphanet:309239/ntbt", source="Orphanet:309239"}
xref: MEDGEN:336452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309239 {source="MONDO:equivalentTo"}
xref: SCTID:238024005 {source="MONDO:equivalentTo"}
xref: UMLS:C1848916 {source="MEDGEN:336452", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010100 {source="Orphanet:309239", source="https://orcid.org/0000-0001-5208-3432"} ! Tay-Sachs disease

[Term]
id: MONDO:0017729
name: metachromatic leukodystrophy, late infantile form
subset: gard_rare {source="GARD:21328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309256"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arylsulfatase A deficiency, late infantile form" EXACT [Orphanet:309256]
synonym: "MLD, late infantile form" EXACT [Orphanet:309256]
xref: GARD:21328 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:309256", source="Orphanet:309256/attributed", source="Orphanet:309256/ntbt"}
xref: MEDGEN:155529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200079 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201202 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309256 {source="MONDO:equivalentTo"}
xref: UMLS:C0751278 {source="MEDGEN:155529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009591 ! metachromatic leukodystrophy, juvenile form

[Term]
id: MONDO:0017730
name: metachromatic leukodystrophy, adult form
subset: gard_rare {source="GARD:21330", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309271"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arylsulfatase A deficiency, adult form" EXACT [Orphanet:309271]
synonym: "MLD, adult form" EXACT [Orphanet:309271]
xref: GARD:21330 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:309271/attributed", source="Orphanet:309271/ntbt", source="Orphanet:309271"}
xref: MEDGEN:199625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200081 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201204 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309271 {source="MONDO:equivalentTo"}
xref: UMLS:C0751279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199625"}
is_a: MONDO:0009591 ! metachromatic leukodystrophy, juvenile form

[Term]
id: MONDO:0017731
name: glycoproteinosis
comment: See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 {source="https://orcid.org/0000-0002-6601-2165"}
subset: disease_grouping
subset: gard_rare {source="GARD:10670", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309279"}
subset: rare
xref: GARD:10670 {source="MONDO:GARD"}
xref: ICD10CM:E77.0 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"}
xref: ICD10CM:E77.1 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"}
xref: ICD10CM:E77.8 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"}
xref: ICD10CM:E77.9 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"}
xref: icd11.foundation:979972142 {source="MONDO:equivalentTo", source="Orphanet:309279"}
xref: MEDGEN:1842769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309279 {source="MONDO:equivalentTo"}
xref: UMLS:C5681075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842769"}
is_a: MONDO:0002561 {source="Orphanet:309279"} ! lysosomal storage disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis" xsd:anyURI {source="GARD:0010670"}

[Term]
id: MONDO:0017732
name: alpha-mannosidosis, infantile form
subset: gard_rare {source="GARD:17407", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lysosomal alpha-D-mannosidase deficiency, infantile form" EXACT [Orphanet:309282]
xref: GARD:17407 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:309282/attributed", source="Orphanet:309282/ntbt", source="Orphanet:309282"}
xref: MEDGEN:575250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200127 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201188 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309282 {source="MONDO:equivalentTo"}
xref: UMLS:C0342847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575250"}
is_a: MONDO:0009561 {source="Orphanet:309282"} ! alpha-mannosidosis

[Term]
id: MONDO:0017733
name: alpha-mannosidosis, adult form
subset: gard_rare {source="GARD:17408", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309288"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha-mannosidosis adult-onset form" RELATED [GTR:AN0103811]
synonym: "lysosomal alpha-D-mannosidase deficiency, adult form" EXACT [Orphanet:309288]
xref: GARD:17408 {source="MONDO:GARD"}
xref: GTR:AN0103810
xref: GTR:AN0103811
xref: ICD10CM:E77.1 {source="Orphanet:309288", source="Orphanet:309288/attributed", source="Orphanet:309288/ntbt"}
xref: MEDGEN:1843432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200128 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201189 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309288 {source="MONDO:equivalentTo"}
xref: UMLS:C5679974 {source="MONDO:equivalentTo", source="MEDGEN:1843432", source="MONDO:MEDGEN"}
is_a: MONDO:0009561 {source="Orphanet:309288"} ! alpha-mannosidosis

[Term]
id: MONDO:0017734
name: sialidosis
def: "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." [Orphanet:309294]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:21331", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309294"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21331 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:309294/inclusion", source="Orphanet:309294", source="Orphanet:309294/ntbt"}
xref: MedDRA:10058800 {source="Orphanet:309294", source="Orphanet:309294/e"}
xref: MEDGEN:120621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200116 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200556 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309294 {source="MONDO:equivalentTo"}
xref: SCTID:38795005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120621"}
is_a: MONDO:0002561 {source="Orphanet:309294/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! lysosomal storage disease
is_a: MONDO:0019251 {source="Orphanet:309294"} ! oligosaccharidosis

[Term]
id: MONDO:0017735
name: congenital aortic valve stenosis
subset: gard_rare {source="GARD:18786", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3093"}
subset: ordo_morphological_anomaly {source="Orphanet:3093"}
subset: orphanet_rare {source="Orphanet:3093"}
subset: rare
xref: GARD:18786 {source="MONDO:GARD"}
xref: ICD10CM:Q23.0 {source="Orphanet:3093", source="Orphanet:3093/e"}
xref: icd11.foundation:1824398514 {source="MONDO:equivalentTo", source="Orphanet:3093", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:746.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10010371 {source="Orphanet:3093", source="Orphanet:3093/e"}
xref: MEDGEN:509030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3093 {source="MONDO:equivalentTo"}
xref: SCTID:18546004 {source="MONDO:equivalentTo"}
xref: UMLS:C0152417 {source="MEDGEN:509030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0042981 {source="https://orcid.org/0000-0001-5208-3432"} ! aortic valve stenosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017736
name: disorder of sialic acid metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21332", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309319"}
subset: rare
xref: GARD:21332 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309319", source="Orphanet:309319/attributed", source="Orphanet:309319/ntbt"}
xref: icd11.foundation:1709765980 {source="Orphanet:309319", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309319 {source="MONDO:equivalentTo"}
xref: SCTID:238050009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342851 {source="MEDGEN:575253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="Orphanet:309319"} ! lysosomal storage disease

[Term]
id: MONDO:0017737
name: intermediate severe Salla disease
subset: gard_rare {source="GARD:10871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:309331"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Intermediate Salla disease" RELATED [GARD:0010871]
xref: GARD:10871 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309331", source="Orphanet:309331/attributed", source="Orphanet:309331/ntbt"}
xref: MEDGEN:1843217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200148 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201238 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:309331 {source="MONDO:equivalentTo"}
xref: UMLS:C5681076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843217"}
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
is_a: MONDO:0019366 {source="Orphanet:309331"} ! free sialic acid storage disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10871/intermediate-severe-salla-disease" xsd:anyURI {source="GARD:0010871"}

[Term]
id: MONDO:0017738
name: lysosomal glycogen storage disease
subset: disease_grouping
subset: gard_rare {source="GARD:21333", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309337"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21333 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:309337/attributed", source="Orphanet:309337/ntbt", source="Orphanet:309337"}
xref: MEDGEN:1842699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309337 {source="MONDO:equivalentTo"}
xref: UMLS:C5681077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842699"}
is_a: MONDO:0002561 {source="Orphanet:309337"} ! lysosomal storage disease

[Term]
id: MONDO:0017739
name: disorder of lysosomal-related organelles
subset: disease_grouping
subset: gard_rare {source="GARD:21334", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309340"}
subset: rare
xref: GARD:21334 {source="MONDO:GARD"}
xref: MEDGEN:1826110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309340 {source="MONDO:equivalentTo"}
xref: UMLS:C5681043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826110"}
is_a: MONDO:0019052 {source="Orphanet:309340"} ! inborn errors of metabolism

[Term]
id: MONDO:0017740
name: disorder of protein N-glycosylation
def: "A disease that has its basis in the disruption of protein N-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process]
subset: disease_grouping
subset: gard_rare {source="GARD:21335", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309347"}
subset: rare
synonym: "disorder of protein N-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "protein N-linked glycosylation disease" EXACT [MONDO:design_pattern]
xref: GARD:21335 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309347/attributed", source="Orphanet:309347/ntbt", source="Orphanet:309347"}
xref: icd11.foundation:292641586 {source="MONDO:equivalentTo", source="Orphanet:309347", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309347 {source="MONDO:equivalentTo"}
xref: UMLS:C5681044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826111"}
is_a: MONDO:0015286 {source="Orphanet:309347"} ! congenital disorder of glycosylation
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006487 ! protein N-linked glycosylation

[Term]
id: MONDO:0017741
name: disorder of protein O-glycosylation
def: "A disease that has its basis in the disruption of protein O-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process]
subset: disease_grouping
subset: gard_rare {source="GARD:21336", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309447"}
subset: rare
synonym: "disorder of protein O-linked glycosylation" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "protein O-linked glycosylation disease" EXACT [MONDO:design_pattern]
xref: GARD:21336 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309447/attributed", source="Orphanet:309447/ntbt", source="Orphanet:309447"}
xref: icd11.foundation:1883085871 {source="MONDO:equivalentTo", source="Orphanet:309447", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309447 {source="MONDO:equivalentTo"}
xref: UMLS:C5681041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842631"}
is_a: MONDO:0015286 {source="Orphanet:309447"} ! congenital disorder of glycosylation
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation

[Term]
id: MONDO:0017742
name: obsolete disorder of O-xylosylglycan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309450"}
xref: GARD:21337 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:309450/attributed", source="Orphanet:309450/ntbt", source="Orphanet:309450"}
xref: Orphanet:309450 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017743
name: obsolete disorder of O-N-acetylgalactosaminylglycan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309458"}
xref: GARD:21338 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:309458/attributed", source="Orphanet:309458/ntbt", source="Orphanet:309458"}
xref: Orphanet:309458 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017744
name: obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309463"}
xref: GARD:21339 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:309463", source="Orphanet:309463/attributed", source="Orphanet:309463/ntbt"}
xref: Orphanet:309463 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017745
name: obsolete disorder of O-mannosylglycan synthesis
subset: ordo_group_of_disorders {source="Orphanet:309469"}
xref: GARD:21340 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:309469/attributed", source="Orphanet:309469/ntbt", source="Orphanet:309469"}
xref: Orphanet:309469 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017746
name: atypical Rett syndrome
def: "A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT)." [Orphanet:3095]
subset: gard_rare {source="GARD:4694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3095"}
subset: orphanet_rare {source="Orphanet:3095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical RTT" EXACT [Orphanet:3095]
synonym: "Rett like syndrome" RELATED [GARD:0004694]
synonym: "Rett syndrome variant" EXACT [Orphanet:3095]
xref: GARD:4694 {source="MONDO:GARD"}
xref: ICD10CM:F84.2 {source="Orphanet:3095", source="Orphanet:3095/attributed", source="Orphanet:3095/ntbt"}
xref: MEDGEN:440664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200605 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:3095 {source="MONDO:equivalentTo"}
xref: SCTID:718393002 {source="MONDO:equivalentTo"}
xref: UMLS:C2748910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440664"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: disease_shares_features_of MONDO:0010726 ! Rett syndrome
relationship: excluded_subClassOf MONDO:0000594 {source="MONDO:Redundant", source="Orphanet:3095", source="https://orcid.org/0000-0001-5208-3432"} ! pervasive developmental disorder
relationship: excluded_subClassOf MONDO:0015653 {source="MONDO:Redundant", source="Orphanet:3095", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0017656 {source="MONDO:Redundant", source="Orphanet:3095", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete motor stereotypies
relationship: excluded_subClassOf MONDO:0020119 {source="MONDO:Redundant", source="Orphanet:3095", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0017747
name: disorder of fucoglycosan synthesis
subset: disease_grouping
subset: gard_rare {source="GARD:21341", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309505"}
subset: rare
xref: GARD:21341 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309505", source="Orphanet:309505/attributed", source="Orphanet:309505/ntbt"}
xref: MEDGEN:1843205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309505 {source="MONDO:equivalentTo"}
xref: UMLS:C5681046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843205"}
is_a: MONDO:0017741 {source="Orphanet:309505"} ! disorder of protein O-glycosylation

[Term]
id: MONDO:0017748
name: inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
subset: disease_grouping
subset: gard_rare {source="GARD:21342", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309515"}
subset: rare
synonym: "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" RELATED [Orphanet:309515]
synonym: "disorder of glycosphingolipid and GPI-anchored proteins glycosylation" EXACT [Orphanet:309515]
xref: GARD:21342 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309515/attributed", source="Orphanet:309515/ntbt", source="Orphanet:309515"}
xref: MEDGEN:1842274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309515 {source="MONDO:equivalentTo"}
xref: UMLS:C5679954 {source="MEDGEN:1842274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015286 {source="Orphanet:309515"} ! congenital disorder of glycosylation
is_a: MONDO:0024321 {source="https://orcid.org/0000-0002-6601-2165"} ! disorder of GPI anchor biosynthesis

[Term]
id: MONDO:0017749
name: disorder of multiple glycosylation
subset: disease_grouping
subset: gard_rare {source="GARD:21343", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309526"}
subset: rare
xref: GARD:21343 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309526/attributed", source="Orphanet:309526/ntbt", source="Orphanet:309526"}
xref: icd11.foundation:684473574 {source="MONDO:equivalentTo", source="Orphanet:309526", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1843364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309526 {source="MONDO:equivalentTo"}
xref: UMLS:C5681039 {source="MEDGEN:1843364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015286 {source="Orphanet:309526"} ! congenital disorder of glycosylation

[Term]
id: MONDO:0017750
name: defect in conserved oligomeric Golgi complex
subset: disease_grouping
subset: gard_rare {source="GARD:21344", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309568"}
subset: rare
synonym: "defect in COG complex" EXACT [Orphanet:309568]
xref: GARD:21344 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309568/attributed", source="Orphanet:309568/ntbt", source="Orphanet:309568"}
xref: MEDGEN:1843352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309568 {source="MONDO:equivalentTo"}
xref: UMLS:C5679953 {source="MEDGEN:1843352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017749 {source="MONDO:Redundant", source="Orphanet:309568"} ! disorder of multiple glycosylation
intersection_of: MONDO:0017749 ! disorder of multiple glycosylation
intersection_of: disease_has_basis_in_dysfunction_of GO:0017119 ! Golgi transport complex

[Term]
id: MONDO:0017751
name: obsolete Reye syndrome
is_obsolete: true
replaced_by: MONDO:0005942

[Term]
id: MONDO:0017752
name: defect in V-ATPase
subset: disease_grouping
subset: gard_rare {source="GARD:21345", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309778"}
subset: rare
xref: GARD:21345 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:309778/attributed", source="Orphanet:309778/ntbt", source="Orphanet:309778"}
xref: MEDGEN:1842740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309778 {source="MONDO:equivalentTo"}
xref: UMLS:C5681038 {source="MEDGEN:1842740", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017749 {source="Orphanet:309778"} ! disorder of multiple glycosylation

[Term]
id: MONDO:0017753
name: obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation
subset: ordo_group_of_disorders {source="Orphanet:309810"}
synonym: "disorder of peroxisomal alpha-, beta- and omega-oxidation" EXACT [GARD:0012476]
xref: GARD:12476 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1092479335 {source="MONDO:obsoleteEquivalent", source="Orphanet:309810", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:309810 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3316" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation" xsd:anyURI {source="GARD:0012476"}
is_obsolete: true
consider: MONDO:0019233
consider: MONDO:0100277

[Term]
id: MONDO:0017754
name: inborn disorder of porphyrin metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." [MONDO:patterns/inborn_metabolic]
comment: Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired.
subset: disease_grouping
subset: gard_rare {source="GARD:21346", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309813"}
subset: rare
synonym: "disorder of porphyrin and haem metabolism" BROAD [Orphanet:309813]
synonym: "inborn disorder of porphyrin and haem metabolism" EXACT [Orphanet:309813]
synonym: "inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn porphyrin-containing compound metabolic process disorder" EXACT []
synonym: "inherited disorder of porphyrin metabolism" EXACT []
synonym: "rare inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21346 {source="MONDO:GARD"}
xref: ICD10CM:E80.0 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"}
xref: ICD10CM:E80.1 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"}
xref: ICD10CM:E80.2 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"}
xref: ICD10CM:E80.3 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"}
xref: ICD10CM:E80.4 {source="Orphanet:309813", source="MONDO:relatedTo", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"}
xref: ICD10CM:E80.5 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"}
xref: ICD10CM:E80.6 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"}
xref: ICD10CM:E80.7 {source="Orphanet:309813", source="Orphanet:309813/btnt", source="Orphanet:309813/specific"}
xref: Orphanet:309813 {source="MONDO:equivalentTo"}
xref: SCTID:403832004 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:309813"} ! inborn errors of metabolism
is_a: MONDO:0037821 {source="MONDO:Redundant"} ! porphyrin metabolism disease
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006778 ! porphyrin-containing compound metabolic process

[Term]
id: MONDO:0017755
name: inborn disorder of bilirubin metabolism
def: "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:21347", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309816"}
subset: rare
synonym: "bilirubin metabolism disorder" RELATED []
synonym: "disorder of bilirubin metabolism" BROAD [MONDO:0024289]
synonym: "disorder of bilirubin metabolism and excretion" EXACT []
synonym: "hereditary bilirubin metabolism disease" EXACT [MONDO:patterns/hereditary]
synonym: "inborn disorder of bilirubin metabolism and excretion" EXACT []
xref: GARD:21347 {source="MONDO:GARD"}
xref: icd11.foundation:1297666279 {source="Orphanet:309816", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1671515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309816 {source="MONDO:equivalentTo"}
xref: UMLS:C0349427 {source="MEDGEN:1671515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017754 {source="Orphanet:309816"} ! inborn disorder of porphyrin metabolism
intersection_of: MONDO:0024431 ! bilirubin metabolism disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: disease_disrupts GO:0015723 ! bilirubin transport

[Term]
id: MONDO:0017756
name: obsolete disorder of pterin metabolism
subset: ordo_group_of_disorders {source="Orphanet:309819"}
xref: GARD:21348 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1801446733 {source="MONDO:obsoleteEquivalent", source="Orphanet:309819", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:309819 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017757
name: disorder of metabolite absorption and transport
subset: disease_grouping
subset: gard_rare {source="GARD:21349", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309824"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21349 {source="MONDO:GARD"}
xref: MEDGEN:1842202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309824 {source="MONDO:equivalentTo"}
xref: UMLS:C5681033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842202"}
is_a: MONDO:0019052 {source="Orphanet:309824"} ! inborn errors of metabolism

[Term]
id: MONDO:0017758
name: disorder of vitamin and non-protein cofactor absorption and transport
subset: disease_grouping
subset: gard_rare {source="GARD:21350", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309827"}
subset: rare
synonym: "disorder of vitamin and non-protein cofactor absorption and transport" EXACT [Orphanet:309827]
xref: GARD:21350 {source="MONDO:GARD"}
xref: icd11.foundation:1112006621 {source="Orphanet:309827", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309827 {source="MONDO:equivalentTo"}
xref: UMLS:C5681037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842689"}
is_a: MONDO:0017757 {source="Orphanet:309827"} ! disorder of metabolite absorption and transport

[Term]
id: MONDO:0017759
name: disorder of catecholamine synthesis
subset: disease_grouping
subset: gard_rare {source="GARD:21351", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309830"}
subset: rare
xref: GARD:21351 {source="MONDO:GARD"}
xref: icd11.foundation:1382276026 {source="MONDO:equivalentTo", source="Orphanet:309830", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309830 {source="MONDO:equivalentTo"}
xref: SCTID:237921002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342685 {source="MEDGEN:575179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019219 {source="MONDO:Redundant", source="Orphanet:309830"} ! inborn disorder of neurotransmitter metabolism and transport
intersection_of: MONDO:0019219 ! inborn disorder of neurotransmitter metabolism and transport
intersection_of: disease_has_basis_in_disruption_of GO:0042423 ! catecholamine biosynthetic process

[Term]
id: MONDO:0017760
name: obsolete disorder of other vitamins and cofactors metabolism and transport
subset: ordo_group_of_disorders {source="Orphanet:309833"}
xref: GARD:21352 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:309833 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017761
name: disorder of mineral absorption and transport
subset: disease_grouping
subset: gard_rare {source="GARD:21353", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309836"}
subset: rare
xref: GARD:21353 {source="MONDO:GARD"}
xref: ICD10CM:E83.0 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"}
xref: ICD10CM:E83.1 {source="Orphanet:309836", source="MONDO:relatedTo", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"}
xref: ICD10CM:E83.2 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"}
xref: ICD10CM:E83.3 {source="Orphanet:309836", source="MONDO:relatedTo", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"}
xref: ICD10CM:E83.4 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"}
xref: ICD10CM:E83.5 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"}
xref: ICD10CM:E83.8 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"}
xref: ICD10CM:E83.9 {source="Orphanet:309836", source="Orphanet:309836/btnt", source="Orphanet:309836/specific"}
xref: icd11.foundation:1833416892 {source="Orphanet:309836", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309836 {source="MONDO:equivalentTo"}
xref: UMLS:C5681035 {source="MONDO:equivalentTo", source="MEDGEN:1842552", source="MONDO:MEDGEN"}
is_a: MONDO:0017757 {source="Orphanet:309836"} ! disorder of metabolite absorption and transport

[Term]
id: MONDO:0017762
name: disorder of copper metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:21354", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309839"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "copper Transport disorders" RELATED [GTR:AN0119091]
synonym: "inborn cellular copper ion homeostasis disorder" EXACT []
synonym: "inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of cellular copper ion homeostasis" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21354 {source="MONDO:GARD"}
xref: ICD10CM:E83.0 {source="Orphanet:309839", source="Orphanet:309839/specific", source="Orphanet:309839/e"}
xref: icd11.foundation:1926278296 {source="Orphanet:309839", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:275.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10061091 {source="Orphanet:309839", source="Orphanet:309839/e"}
xref: MEDGEN:507647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309839 {source="MONDO:equivalentTo"}
xref: SCTID:79886009 {source="MONDO:equivalentTo"}
xref: UMLS:C0012714 {source="MEDGEN:507647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017761 {source="Orphanet:309839"} ! disorder of mineral absorption and transport
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006878 ! intracellular copper ion homeostasis

[Term]
id: MONDO:0017763
name: disorder of iron metabolism and transport
subset: disease_grouping
subset: gard_rare {source="GARD:21355", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309842"}
subset: rare
xref: GARD:21355 {source="MONDO:GARD"}
xref: ICD10CM:E83.1 {source="Orphanet:309842/specific", source="MONDO:relatedTo", source="Orphanet:309842/e", source="Orphanet:309842"}
xref: MEDGEN:1826109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309842 {source="MONDO:equivalentTo"}
xref: UMLS:C5681031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826109"}
is_a: MONDO:0017761 {source="Orphanet:309842"} ! disorder of mineral absorption and transport
relationship: disease_has_basis_in_disruption_of GO:0006826 ! iron ion transport

[Term]
id: MONDO:0017764
name: disorder of zinc metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21356", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309845"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of zinc metabolism and transport" RELATED [Orphanet:309845]
xref: GARD:21356 {source="MONDO:GARD"}
xref: ICD10CM:E83.2 {source="Orphanet:309845/specific", source="Orphanet:309845/e", source="Orphanet:309845"}
xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048260 {source="Orphanet:309845/e", source="Orphanet:309845"}
xref: MEDGEN:541182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309845 {source="MONDO:equivalentTo"}
xref: SCTID:46727001 {source="MONDO:equivalentTo"}
xref: UMLS:C0268085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541182"}
is_a: MONDO:0017761 {source="Orphanet:309845"} ! disorder of mineral absorption and transport

[Term]
id: MONDO:0017765
name: disorder of magnesium transport
def: "An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:21357", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309848"}
subset: rare
synonym: "inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn magnesium ion transport disorder" EXACT []
synonym: "rare inborn error of magnesium ion transport" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21357 {source="MONDO:GARD"}
xref: ICD10CM:E83.4 {source="Orphanet:309848/attributed", source="Orphanet:309848/ntbt", source="Orphanet:309848"}
xref: MEDGEN:1842842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309848 {source="MONDO:equivalentTo"}
xref: UMLS:C5681030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842842"}
is_a: MONDO:0017761 {source="Orphanet:309848"} ! disorder of mineral absorption and transport
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0015693 ! magnesium ion transport

[Term]
id: MONDO:0017766
name: disorder of manganese transport
subset: disease_grouping
subset: gard_rare {source="GARD:21358", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:309851"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21358 {source="MONDO:GARD"}
xref: ICD10CM:E83.8 {source="Orphanet:309851/attributed", source="Orphanet:309851/ntbt", source="Orphanet:309851"}
xref: MEDGEN:1843191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:309851 {source="MONDO:equivalentTo"}
xref: UMLS:C5681032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843191"}
is_a: MONDO:0017761 {source="Orphanet:309851"} ! disorder of mineral absorption and transport

[Term]
id: MONDO:0017767
name: rheumatic fever
def: "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." [Orphanet:3099]
subset: gard_rare {source="GARD:5699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1668"}
subset: ordo_disorder {source="Orphanet:3099"}
subset: orphanet_rare {source="Orphanet:3099"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute rheumatic fever" EXACT [DOID:1586, ICD9CM:390-392.99, Orphanet:3099]
synonym: "ARF" EXACT ABBREVIATION [NCIT:C34984]
synonym: "inflammatory rheumatism" RELATED [GARD:0005699]
synonym: "RHF - rheumatic fever" EXACT [DOID:1586]
xref: DOID:1586 {source="MONDO:equivalentTo", source="EFO:1001160"}
xref: EFO:1001160 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5699 {source="MONDO:GARD"}
xref: ICD10CM:I00 {source="DOID:1586", source="Orphanet:3099/btnt", source="Orphanet:3099"}
xref: ICD10CM:I00-I02 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1586", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:I01.0 {source="Orphanet:3099/btnt", source="Orphanet:3099"}
xref: ICD10CM:I01.1 {source="Orphanet:3099/btnt", source="Orphanet:3099"}
xref: ICD10CM:I01.2 {source="Orphanet:3099/btnt", source="Orphanet:3099"}
xref: ICD10CM:I01.8 {source="Orphanet:3099/btnt", source="Orphanet:3099"}
xref: ICD10CM:I01.9 {source="Orphanet:3099/btnt", source="Orphanet:3099"}
xref: ICD9:390 {source="DOID:1586"}
xref: ICD9:390-392.99 {source="DOID:1586"}
xref: MedDRA:10039054 {source="Orphanet:3099/e", source="Orphanet:3099", source="EFO:1001160"}
xref: MEDGEN:48448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012213 {source="DOID:1586", source="Orphanet:3099/e", source="MONDO:equivalentTo", source="Orphanet:3099", source="EFO:1001160"}
xref: NCIT:C34984 {source="DOID:1586", source="MONDO:equivalentTo", source="EFO:1001160"}
xref: NORD:1668 {source="MONDO:NORD"}
xref: Orphanet:3099 {source="MONDO:equivalentTo"}
xref: SCTID:155264006 {source="DOID:1586"}
xref: SCTID:155265007 {source="DOID:1586"}
xref: SCTID:155274009 {source="DOID:1586"}
xref: SCTID:194718003 {source="DOID:1586"}
xref: SCTID:195528001 {source="DOID:1586"}
xref: SCTID:24363009 {source="DOID:1586"}
xref: SCTID:26424001 {source="DOID:1586"}
xref: SCTID:266276003 {source="DOID:1586"}
xref: SCTID:274095001 {source="DOID:1586"}
xref: SCTID:58718002 {source="DOID:1586", source="MONDO:equivalentTo", source="EFO:1001160"}
xref: SCTID:81077008 {source="MONDO:relatedTo", source="DOID:1586"}
xref: UMLS:C0035436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48448"}
is_a: MONDO:0005554 {source="MESH:D012213", source="Orphanet:3099"} ! rheumatic disorder
is_a: MONDO:0021673 {source="https://orcid.org/0000-0001-5208-3432"} ! post-bacterial disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0003900 {source="DOID:1586", source="MESH:D012213/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder
relationship: excluded_subClassOf MONDO:0005113 {source="MESH:D012213/inferred", source="NCIT:C34984", source="https://orcid.org/0000-0001-5208-3432"} ! bacterial infectious disease
relationship: excluded_subClassOf MONDO:0005172 {source="EFO:1001160", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever" xsd:anyURI {source="GARD:0005699"}

[Term]
id: MONDO:0017768
name: reflex epilepsy
def: "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy)." [Orphanet:310]
subset: disease_grouping
subset: gard_rare {source="GARD:18688", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, sensory-induced" EXACT [DOID:2548]
xref: DOID:2548 {source="MONDO:equivalentTo", source="EFO:1001146"}
xref: EFO:1001146 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18688 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:310/ntbt", source="Orphanet:310"}
xref: icd11.foundation:276807111 {source="MONDO:equivalentTo", source="Orphanet:310", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020195 {source="Orphanet:310/e", source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548", source="Orphanet:310"}
xref: NCIT:C85041 {source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548"}
xref: Orphanet:310 {source="MONDO:equivalentTo"}
xref: SCTID:79745005 {source="MONDO:equivalentTo", source="EFO:1001146", source="DOID:2548"}
xref: UMLS:C0270857 {source="MONDO:equivalentTo", source="MEDGEN:75726", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="DOID:2548/inferred", source="EFO:1001146", source="MESH:D020195", source="MONDO:Redundant", source="NCIT:C85041"} ! epilepsy
is_a: MONDO:0100036 {source="DOID:2548", source="https://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy
relationship: excluded_subClassOf MONDO:0020072 {source="Orphanet:310", source="https://orcid.org/0000-0001-5208-3432"} ! childhood-onset epilepsy syndrome
relationship: excluded_subClassOf MONDO:0020073 {source="Orphanet:310", source="https://orcid.org/0000-0001-5208-3432"} ! adolescent-onset epilepsy syndrome
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/reflex-epilepsies-overview.html" xsd:anyURI

[Term]
id: MONDO:0017769
name: acquired immunodeficiency
subset: disease_grouping
subset: gard_rare {source="GARD:21359", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:310050"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21359 {source="MONDO:GARD"}
xref: icd11.foundation:609223181 {source="MONDO:equivalentTo", source="Orphanet:310050", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1843453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:310050 {source="MONDO:equivalentTo"}
xref: UMLS:C0596032 {source="MEDGEN:1843453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="Orphanet:310050"} ! immune system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare

[Term]
id: MONDO:0017770
name: Robinow-like syndrome
def: "Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait." [Orphanet:3105]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:3105"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Saal-Greenstein syndrome" EXACT [Orphanet:3105]
xref: ICD10CM:Q87.1 {source="Orphanet:3105/attributed", source="Orphanet:3105/ntbt", source="Orphanet:3105"}
xref: Orphanet:3105 {source="MONDO:equivalentObsolete"}
xref: SCTID:721905000 {source="MONDO:equivalentTo"}
is_a: MONDO:0015160 {source="Orphanet:3105"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="Orphanet:3105", source="Orphanet:3105/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0017771
name: Mayer-Rokitansky-Kuster-Hauser syndrome
def: "Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)." [Orphanet:3109]
subset: gard_rare {source="GARD:5445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1412"}
subset: ordo_disorder {source="Orphanet:3109"}
subset: ordo_malformation_syndrome {source="Orphanet:3109"}
subset: orphanet_rare {source="Orphanet:3109"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mayer-Rokitansky-Küster-Hauser Syndrome" EXACT [NORD:1412]
synonym: "Mayer-Rokitansky-Küster-Hauser syndrome" RELATED [Orphanet:3109]
synonym: "MRKH" EXACT ABBREVIATION [NCIT:C124853]
synonym: "MRKH syndrome" EXACT [Orphanet:3109]
synonym: "Mullerian aplasia/dysgenesis" EXACT [NCIT:C124853]
synonym: "Rokitansky Kuster Hauser syndrome" EXACT [https://orcid.org/0000-0001-5493-2602]
synonym: "Rokitansky syndrome" EXACT [Orphanet:3109]
xref: DOID:0112177 {source="MONDO:equivalentTo"}
xref: GARD:5445 {source="MONDO:GARD"}
xref: ICD10CM:Q51.8 {source="Orphanet:3109", source="Orphanet:3109/attributed", source="Orphanet:3109/ntbt"}
xref: MedDRA:10065148 {source="Orphanet:3109", source="Orphanet:3109/e"}
xref: MEDGEN:352204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124853 {source="MONDO:equivalentTo"}
xref: NORD:1412 {source="MONDO:NORD"}
xref: Orphanet:3109 {source="MONDO:equivalentTo"}
xref: SCTID:8793008 {source="MONDO:equivalentTo"}
xref: UMLS:C1698581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:352204"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124853"} ! syndromic disease
is_a: MONDO:0015830 {source="Orphanet:3109"} ! partial bilateral aplasia of the mullerian ducts
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6438" xsd:anyURI

[Term]
id: MONDO:0017772
name: oral erosive lichen
xref: ICD10CM:L43.8 {source="Orphanet:31142/ntbt", source="Orphanet:31142"}
xref: Orphanet:31142 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder

[Term]
id: MONDO:0017773
name: hypoalphalipoproteinemia
def: "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." [NCIT:C84774]
subset: disease_grouping
subset: gard_rare {source="GARD:18801", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:31153"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18801 {source="MONDO:GARD"}
xref: ICD10CM:E78.6 {source="Orphanet:31153/attributed", source="Orphanet:31153/ntbt", source="Orphanet:31153"}
xref: icd11.foundation:1731667610 {source="MONDO:equivalentTo", source="Orphanet:31153", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10065156 {source="Orphanet:31153/e", source="Orphanet:31153"}
xref: MEDGEN:57731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052456 {source="Orphanet:31153/e", source="MONDO:equivalentTo", source="Orphanet:31153"}
xref: NANDO:2200605 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84774 {source="MONDO:equivalentTo"}
xref: Orphanet:31153 {source="MONDO:equivalentTo"}
xref: SCTID:190785000 {source="MONDO:equivalentTo"}
xref: UMLS:C0151691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57731"}
is_a: MONDO:0005066 {source="MESH:D052456/inferred", source="MONDO:Redundant", source="NCIT:C84774", source="Orphanet:31153/inferred"} ! metabolic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015904"} ! rare

[Term]
id: MONDO:0017774
name: hypobetalipoproteinemia
def: "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." [https://orcid.org/0000-0001-5208-3432, Orphanet:31154]
subset: disease_grouping
subset: gard_rare {source="GARD:18802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:31154"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypo-beta-lipoproteinemia" EXACT [DOID:1390]
xref: DOID:1390 {source="MONDO:equivalentTo"}
xref: GARD:18802 {source="MONDO:GARD"}
xref: ICD10CM:E78.6 {source="Orphanet:31154/attributed", source="Orphanet:31154/ntbt", source="Orphanet:31154"}
xref: icd11.foundation:1934975006 {source="MONDO:equivalentTo", source="Orphanet:31154", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:6978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006995 {source="Orphanet:31154/e", source="MONDO:equivalentTo", source="DOID:1390", source="Orphanet:31154"}
xref: Orphanet:31154 {source="MONDO:equivalentTo"}
xref: Orphanet:426
xref: SCTID:190786004 {source="MONDO:equivalentTo", source="DOID:1390"}
xref: UMLS:C0020597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6978"}
is_a: MONDO:0001822 {source="DOID:1390", source="MESH:D006995"} ! hypolipoproteinemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015904"} ! rare

[Term]
id: MONDO:0017775
name: melioidosis
def: "An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration." [NCIT:C128336]
subset: gard_rare {source="GARD:9546", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31202"}
subset: orphanet_rare {source="Orphanet:31202"}
subset: rare
synonym: "acute and fulminating melioidosis" EXACT [DOID:5052]
synonym: "B pseudomallei infection" RELATED [GARD:0009546]
synonym: "Burkholderia pseudomallei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Burkholderia pseudomallei disease or disorder" EXACT []
synonym: "Burkholderia pseudomallei infection" RELATED [GARD:0009546]
synonym: "Burkholderia pseudomallei infectious disease" EXACT []
synonym: "Nightcliff gardener's disease" EXACT [DOID:5052]
synonym: "pseudoglanders" EXACT [DOID:5052]
synonym: "subacute and chronic melioidosis" EXACT [DOID:5052]
synonym: "Whitmore disease" RELATED [GARD:0009546]
synonym: "Whitmore's disease" EXACT [DOID:5052]
xref: DOID:5052 {source="MONDO:equivalentTo"}
xref: GARD:9546 {source="MONDO:GARD"}
xref: ICD10CM:A24.1 {source="Orphanet:31202/btnt", source="Orphanet:31202"}
xref: ICD10CM:A24.2 {source="Orphanet:31202/btnt", source="Orphanet:31202"}
xref: ICD10CM:A24.3 {source="Orphanet:31202/btnt", source="Orphanet:31202"}
xref: ICD10CM:A24.9 {source="DOID:5052"}
xref: icd11.foundation:2129350166 {source="Orphanet:31202", source="MONDO:equivalentTo"}
xref: ICD9:025 {source="DOID:5052"}
xref: MedDRA:10069748 {source="Orphanet:31202", source="Orphanet:31202/e"}
xref: MEDGEN:44346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008554 {source="Orphanet:31202", source="MONDO:equivalentTo", source="Orphanet:31202/e", source="DOID:5052"}
xref: NCIT:C128336 {source="MONDO:equivalentTo"}
xref: Orphanet:31202 {source="MONDO:equivalentTo"}
xref: SCTID:186312003 {source="MONDO:equivalentTo"}
xref: SCTID:187306003 {source="DOID:5052"}
xref: SCTID:34458001 {source="DOID:5052"}
xref: SCTID:428111003 {source="DOID:5052"}
xref: UMLS:C0025229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44346"}
is_a: MONDO:0000314 {source="DOID:5052"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:5052/inferred", source="MESH:D008554/inferred", source="MONDO:Redundant", source="NCIT:C128336", source="Orphanet:31202"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:28450 ! Burkholderia pseudomallei
relationship: disease_has_infectious_agent NCBITaxon:28450 {source="MONDO:Wikidata"} ! Burkholderia pseudomallei
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9546/melioidosis" xsd:anyURI {source="GARD:0009546"}

[Term]
id: MONDO:0017776
name: nocardiosis
def: "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection." [Orphanet:31204]
subset: gard_rare {source="GARD:7210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1510"}
subset: ordo_disorder {source="Orphanet:31204"}
subset: orphanet_rare {source="Orphanet:31204"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung nocardiosis" RELATED [GARD:0007210]
synonym: "Nocardia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Nocardia disease or disorder" EXACT []
synonym: "Nocardia infection" RELATED [GARD:0007210]
synonym: "Nocardia infectious disease" EXACT [DOID:2312]
xref: DOID:2312 {source="MONDO:equivalentTo", source="EFO:0007397"}
xref: EFO:0007397 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7210 {source="MONDO:GARD"}
xref: ICD10CM:A43 {source="DOID:2312", source="MONDO:equivalentTo"}
xref: ICD10CM:A43.0 {source="Orphanet:31204/btnt", source="Orphanet:31204"}
xref: ICD10CM:A43.1 {source="Orphanet:31204/btnt", source="Orphanet:31204"}
xref: ICD10CM:A43.8 {source="Orphanet:31204/btnt", source="Orphanet:31204"}
xref: ICD10CM:A43.9 {source="Orphanet:31204/btnt", source="DOID:2312", source="Orphanet:31204"}
xref: MedDRA:10029444 {source="Orphanet:31204", source="Orphanet:31204/e"}
xref: MEDGEN:18067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536125 {source="Orphanet:31204", source="Orphanet:31204/e"}
xref: MESH:D009617 {source="DOID:2312", source="MONDO:equivalentTo", source="EFO:0007397"}
xref: NCIT:C171147 {source="MONDO:equivalentTo"}
xref: NORD:1510 {source="MONDO:NORD"}
xref: Orphanet:31204 {source="MONDO:equivalentTo"}
xref: SCTID:186404005 {source="DOID:2312"}
xref: SCTID:187337003 {source="DOID:2312"}
xref: SCTID:29227009 {source="DOID:2312", source="MONDO:equivalentTo"}
xref: UMLS:C0028242 {source="MEDGEN:18067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000316 {source="DOID:2312"} ! opportunistic bacterial infectious disease
is_a: MONDO:0005113 {source="Orphanet:31204"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1817 ! Nocardia
relationship: disease_has_infectious_agent NCBITaxon:1824 ! Nocardia asteroides
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7210/nocardiosis" xsd:anyURI {source="GARD:0007210"}

[Term]
id: MONDO:0017777
name: obsolete rat-bite fever
is_obsolete: true
replaced_by: MONDO:0006941

[Term]
id: MONDO:0017778
name: lamellar ichthyosis
def: "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." [Orphanet:313]
subset: gard_rare {source="GARD:10803", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1289"}
subset: ordo_disorder {source="Orphanet:313"}
subset: orphanet_rare {source="Orphanet:313"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic lamellar ichthyosis" EXACT [Orphanet:313]
synonym: "congenital lamellar ichthyosis" EXACT [Orphanet:313]
synonym: "LI" EXACT ABBREVIATION [Orphanet:313]
xref: GARD:10803 {source="MONDO:GARD"}
xref: ICD10CM:Q80.2 {source="Orphanet:313", source="Orphanet:313/e", source="Orphanet:313/specific"}
xref: MedDRA:10023686 {source="Orphanet:313", source="Orphanet:313/e"}
xref: MESH:D017490 {source="Orphanet:313", source="Orphanet:313/e"}
xref: NANDO:1200617 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84805 {source="MONDO:equivalentTo"}
xref: NORD:1289 {source="MONDO:NORD"}
xref: Orphanet:313 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005093 {source="Orphanet:313/inferred"} ! skin disorder
is_a: MONDO:0005328 ! eye disorder
relationship: excluded_subClassOf MONDO:0019269 {source="MESH:D017490/inferred", source="NCIT:C84805", source="Orphanet:313/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017779
name: alpha-N-acetylgalactosaminidase deficiency
def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." [Orphanet:3137]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1693"}
subset: ordo_disorder {source="Orphanet:3137"}
subset: orphanet_rare {source="Orphanet:3137"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-N-acetylgalactosaminidase activity disease" EXACT [MONDO:design_pattern]
synonym: "disorder of alpha-N-acetylgalactosaminidase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "NAGA deficiency" EXACT [Orphanet:3137]
synonym: "Schindler disease" EXACT [NORD:1693, Orphanet:3137]
xref: DOID:0112317 {source="MONDO:equivalentTo"}
xref: GARD:16621 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:3137/attributed", source="Orphanet:3137/ntbt", source="Orphanet:3137"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NANDO:1200134 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1693 {source="MONDO:NORD"}
xref: Orphanet:3137 {source="MONDO:equivalentTo"}
xref: SCTID:238048001 {source="MONDO:equivalentTo"}
is_a: MONDO:0019251 {source="Orphanet:3137"} ! oligosaccharidosis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0008456 ! alpha-N-acetylgalactosaminidase activity

[Term]
id: MONDO:0017780
name: 20p13 microdeletion syndrome
def: "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." [Orphanet:313781]
subset: gard_rare {source="GARD:21360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313781"}
subset: ordo_malformation_syndrome {source="Orphanet:313781"}
subset: orphanet_rare {source="Orphanet:313781"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "20p subtelomeric deletion syndrome" EXACT [Orphanet:313781]
synonym: "Del(20)(p13)" EXACT [Orphanet:313781]
synonym: "monosomy 20p13" EXACT [Orphanet:313781]
xref: GARD:21360 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:313781/attributed", source="Orphanet:313781/ntbt", source="Orphanet:313781"}
xref: MEDGEN:1655817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:313781 {source="MONDO:equivalentTo"}
xref: UMLS:C4750789 {source="MEDGEN:1655817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:313781"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016898 {source="Orphanet:313781"} ! partial monosomy of the short arm of chromosome 20
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr20p13 ! 20p13 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:313781", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017781
name: 12p12.1 microdeletion syndrome
subset: gard_rare {source="GARD:17414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:313884"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:313884"}
subset: rare
synonym: "Del(12)(p12.1)" EXACT [Orphanet:313884]
synonym: "monosomy 12p12.1" EXACT [Orphanet:313884]
xref: GARD:17414 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:313884", source="Orphanet:313884/attributed", source="Orphanet:313884/ntbt"}
xref: MEDGEN:1652598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:313884 {source="MONDO:equivalentTo"}
xref: UMLS:C4755260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1652598"}
is_a: MONDO:0022174 {source="Orphanet:313884"} ! chromosome 12p deletion
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr12p12.1 ! 12p12.1 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017782
name: developmental and speech delay due to SOX5 deficiency
def: "A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)." [https://orcid.org/0000-0001-5208-3432, Orphanet:313892]
subset: gard_rare {source="GARD:17415", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:313892"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17415 {source="MONDO:GARD"}
xref: MEDGEN:1660895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:313892 {source="MONDO:equivalentTo"}
xref: UMLS:C4749915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1660895"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:313892", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017783
name: congenital pancreatic cyst
subset: gard_rare {source="GARD:21361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313906"}
subset: ordo_morphological_anomaly {source="Orphanet:313906"}
subset: orphanet_rare {source="Orphanet:313906"}
subset: rare
synonym: "neonatal congenital pancreatic cyst" EXACT [Orphanet:313906]
synonym: "true congenital pancreatic cyst" EXACT [Orphanet:313906]
xref: GARD:21361 {source="MONDO:GARD"}
xref: ICD10CM:Q45.2 {source="Orphanet:313906/e", source="MONDO:equivalentTo", source="Orphanet:313906"}
xref: MEDGEN:574418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:313906 {source="MONDO:equivalentTo"}
xref: SCTID:204808002 {source="MONDO:equivalentTo"}
xref: UMLS:C0341480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574418"}
is_a: MONDO:0002356 {source="Orphanet:313906"} ! pancreas disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017784
name: Epstein-Barr virus-associated gastric carcinoma
def: "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis." [Orphanet:313920]
subset: gard_rare {source="GARD:21362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313920"}
subset: orphanet_rare {source="Orphanet:313920"}
subset: rare
synonym: "EBV-associated gastric carcinoma" EXACT [Orphanet:313920]
synonym: "EBVaGC" EXACT [Orphanet:313920]
xref: GARD:21362 {source="MONDO:GARD"}
xref: ICD10CM:C16.0 {source="Orphanet:313920/ntbt", source="Orphanet:313920"}
xref: ICD10CM:C16.2 {source="Orphanet:313920/ntbt", source="Orphanet:313920"}
xref: MEDGEN:896878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:313920 {source="MONDO:equivalentTo"}
xref: SCTID:716586009 {source="MONDO:equivalentTo"}
xref: UMLS:C4274414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896878"}
is_a: MONDO:0004950 {source="Orphanet:313920"} ! gastric carcinoma
is_a: MONDO:0017344 {source="Orphanet:313920"} ! Epstein-Barr virus-associated carcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare

[Term]
id: MONDO:0017785
name: PENS syndrome
def: "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." [Orphanet:313936]
subset: gard_rare {source="GARD:13447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313936"}
subset: orphanet_rare {source="Orphanet:313936"}
subset: rare
synonym: "papular epidermal nevi with skyline basal cell layers syndrome" EXACT [Orphanet:313936]
xref: GARD:13447 {source="MONDO:GARD"}
xref: MEDGEN:1654469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:313936 {source="MONDO:equivalentTo"}
xref: UMLS:C4749916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1654469"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005073 {source="Orphanet:313936"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017786
name: 2q23.1 microduplication syndrome
def: "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported." [Orphanet:313947]
subset: gard_rare {source="GARD:21363", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:313947"}
subset: ordo_malformation_syndrome {source="Orphanet:313947"}
subset: orphanet_rare {source="Orphanet:313947"}
subset: rare
synonym: "dup(2)(q23.1)" EXACT [Orphanet:313947]
synonym: "trisomy 2q23.1" EXACT [Orphanet:313947]
xref: GARD:21363 {source="MONDO:GARD"}
xref: MEDGEN:1647644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:313947 {source="MONDO:equivalentTo"}
xref: SCTID:766816008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707847 {source="MEDGEN:1647644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016953 {source="Orphanet:313947"} ! partial duplication of the long arm of chromosome 2
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr2q23.1 ! 2q23.1 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:313947", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017787
name: erythroderma desquamativum
comment: Editors note: check whether xref to HGNC:1331 is appropriate
subset: gard_rare {source="GARD:6878", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314"}
subset: orphanet_rare {source="Orphanet:314"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythroderma desquamativa of Leiner" RELATED [GARD:0002191]
synonym: "erythroderma desquamativum of infancy" RELATED [GARD:0002191, MESH:C535512]
synonym: "generalised erythroderma, diarrhea, and failure to thrive" RELATED OMO:0003005 []
synonym: "generalized erythroderma, diarrhea, and failure to thrive" RELATED [GARD:0002191, MESH:C535512]
synonym: "Leiner disease" EXACT [Orphanet:314]
synonym: "Leiner-Moussous desquamative erythroderma" RELATED [GARD:0002191, MESH:C535512]
xref: GARD:6878 {source="MONDO:GARD"}
xref: HGNC:1331 {source="GARD:0002191"}
xref: ICD10CM:L21.1 {source="Orphanet:314/ntbt", source="Orphanet:314", source="Orphanet:314/index"}
xref: MEDGEN:1790529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535512 {source="MONDO:equivalentTo"}
xref: Orphanet:314 {source="MONDO:equivalentTo"}
xref: UMLS:C5551904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790529"}
is_a: MONDO:0005046 {source="Orphanet:314"} ! immune system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2191/erythroderma-desquamativa-of-leiner" xsd:anyURI {source="GARD:0002191"}

[Term]
id: MONDO:0017788
name: contractures - webbed neck - micrognathia - hypoplastic nipples syndrome
subset: gard_rare {source="GARD:21364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314002"}
subset: ordo_malformation_syndrome {source="Orphanet:314002"}
subset: orphanet_rare {source="Orphanet:314002"}
subset: rare
synonym: "Dinno syndrome" EXACT [Orphanet:314002]
xref: GARD:21364 {source="MONDO:GARD"}
xref: MEDGEN:1661787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314002 {source="MONDO:equivalentTo"}
xref: UMLS:C4751075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1661787"}
is_a: MONDO:0015161 {source="Orphanet:314002"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:314002", source="Orphanet:314002/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0017789
name: idiopathic linear interstitial keratitis
def: "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." [Orphanet:314017]
subset: gard_rare {source="GARD:21365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314017"}
subset: orphanet_rare {source="Orphanet:314017"}
subset: rare
xref: GARD:21365 {source="MONDO:GARD"}
xref: ICD10CM:H16.3 {source="Orphanet:314017/ntbt", source="Orphanet:314017"}
xref: MEDGEN:1653609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314017 {source="MONDO:equivalentTo"}
xref: UMLS:C4751438 {source="MEDGEN:1653609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0017790
name: gastric adenocarcinoma and proximal polyposis of the stomach
def: "A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:314022]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17416", source="MONDO:GARD"}
subset: n_of_one
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314022"}
subset: orphanet_rare {source="Orphanet:314022"}
subset: rare
synonym: "familial fundic gland polyposis with gastric cancer" EXACT [Orphanet:314022]
synonym: "fundic gland polyposis" EXACT [OMIM:619182]
synonym: "GAPPS" EXACT ABBREVIATION [OMIM:619182, Orphanet:314022]
synonym: "polyposis, gastric" EXACT [OMIM:175020, OMIM:619182]
synonym: "polyposis, gastric, Dos Santos and de Magalhaes 1980" EXACT [MONDO:0024293]
xref: GARD:17416 {source="MONDO:GARD"}
xref: MEDGEN:1657285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C172989 {source="MONDO:equivalentTo"}
xref: OMIM:619182 {source="MONDO:equivalentTo"}
xref: Orphanet:157798 {source="MONDO:relatedTo", source="OMIM:175020"}
xref: Orphanet:314022 {source="MONDO:equivalentTo"}
xref: UMLS:C4749917 {source="MEDGEN:1657285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000147 {source="https://orcid.org/0000-0002-6601-2165"} ! polyposis
is_a: MONDO:0018502 {source="Orphanet:314022"} ! hereditary gastric cancer
relationship: disease_has_feature HP:0004394 ! Multiple gastric polyps
relationship: disease_has_feature MONDO:0008277 ! stomach polyp

[Term]
id: MONDO:0017791
name: high bone mass osteogenesis imperfecta
subset: gard_rare {source="GARD:21366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314029"}
subset: orphanet_rare {source="Orphanet:314029"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "high bone mass OI" EXACT [Orphanet:314029]
xref: GARD:21366 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="Orphanet:314029", source="MONDO:relatedTo", source="Orphanet:314029/attributed", source="Orphanet:314029/ntbt"}
xref: MEDGEN:1672817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314029 {source="MONDO:equivalentTo"}
xref: UMLS:C5190607 {source="MEDGEN:1672817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="Orphanet:314029"} ! osteogenesis imperfecta
relationship: disease_has_feature HP:0011001 {source="Orphanet:314029"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:314029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density

[Term]
id: MONDO:0017792
name: 7p22.1 microduplication syndrome
def: "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." [Orphanet:314034]
subset: gard_rare {source="GARD:21367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314034"}
subset: ordo_malformation_syndrome {source="Orphanet:314034"}
subset: orphanet_rare {source="Orphanet:314034"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dup(7)(p22.1)" EXACT [Orphanet:314034]
synonym: "trisomy 7p22.1" EXACT [Orphanet:314034]
xref: GARD:21367 {source="MONDO:GARD"}
xref: MEDGEN:1641886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314034 {source="MONDO:equivalentTo"}
xref: SCTID:764703002 {source="MONDO:equivalentTo"}
xref: UMLS:C4707093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641886"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:314034"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:314034"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016944 {source="Orphanet:314034"} ! partial duplication of the short arm of chromosome 7
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr7p22.1 ! 7p22.1 (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017793
name: marfanoid habitus-inguinal hernia-advanced bone age syndrome
subset: gard_rare {source="GARD:21368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314041"}
subset: ordo_malformation_syndrome {source="Orphanet:314041"}
subset: orphanet_rare {source="Orphanet:314041"}
subset: rare
xref: GARD:21368 {source="MONDO:GARD"}
xref: MEDGEN:1684094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314041 {source="MONDO:equivalentTo"}
xref: UMLS:C5190606 {source="MEDGEN:1684094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis

[Term]
id: MONDO:0017794
name: Xq12-q13.3 duplication syndrome
def: "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients." [Orphanet:314389]
subset: gard_rare {source="GARD:21369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314389"}
subset: ordo_malformation_syndrome {source="Orphanet:314389"}
subset: orphanet_rare {source="Orphanet:314389"}
subset: rare
synonym: "dup(X)(q12-q13.3)" EXACT [Orphanet:314389]
xref: GARD:21369 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:314389", source="Orphanet:314389/attributed", source="Orphanet:314389/ntbt"}
xref: MEDGEN:1648034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314389 {source="MONDO:equivalentTo"}
xref: SCTID:764711007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707094 {source="MEDGEN:1648034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017010 {source="Orphanet:314389"} ! partial duplication of the long arm of chromosome X
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chrXq12-q13.3 ! Xq12-q13.3 (Human)
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0017795
name: ameloblastoma
def: "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." [NCIT:C4313]
subset: gard_rare {source="GARD:5747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:764"}
subset: ordo_disorder {source="Orphanet:314419"}
subset: orphanet_rare {source="Orphanet:314419"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adamantinoma" RELATED DEPRECATED [Wikipedia:Adamantinoma]
synonym: "Adenoameloblastoma" RELATED [GARD:0005747]
synonym: "adenomatoid odontogenic tumor" RELATED [GARD:0005747]
synonym: "adenomatoid odontogenic tumour" RELATED OMO:0003005 []
synonym: "ameloblastoma" EXACT [NCIT:C4313]
synonym: "ameloblastoma of jaw" EXACT [Orphanet:314419]
synonym: "aot" RELATED [GARD:0005747]
xref: DOID:0050894 {source="MONDO:equivalentTo"}
xref: GARD:5747 {source="MONDO:GARD"}
xref: ICD10CM:C41.1 {source="Orphanet:314419", source="Orphanet:314419/ntbt"}
xref: ICDO:9310/0 {source="NCIT:C4313"}
xref: MedDRA:10066796 {source="Orphanet:314419", source="Orphanet:314419/e"}
xref: MEDGEN:1457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000564 {source="MONDO:equivalentTo"}
xref: NCIT:C4313 {source="MONDO:equivalentTo"}
xref: NORD:764 {source="MONDO:NORD"}
xref: Orphanet:314419 {source="MONDO:equivalentTo"}
xref: SCTID:285311001 {source="MONDO:equivalentTo"}
xref: UMLS:C0002448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1457"}
is_a: MONDO:0005165 {source="DOID:0050894", source="DOID:0050894/inferred", source="MONDO:Redundant"} ! benign neoplasm
is_a: MONDO:0021192 {source="MESH:D000564", source="MONDO:Redundant", source="NCIT:C4313", source="Orphanet:314419"} ! odontogenic neoplasm
relationship: disease_arises_from_structure CL:0000059 ! ameloblast
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017797"} ! rare

[Term]
id: MONDO:0017796
name: obsolete ameloblastic carcinoma
is_obsolete: true
replaced_by: MONDO:0006079

[Term]
id: MONDO:0017797
name: obsolete rare odontologic tumor
def: "OBSOLETE. Any of the forms of odontogenic neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:314425"}
synonym: "rare odontogenic neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare odontogenic tumor" RELATED [Orphanet:314425]
xref: GARD:21370 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:314425 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021192

[Term]
id: MONDO:0017798
name: Spigelian hernia-cryptorchidism syndrome
subset: gard_rare {source="GARD:21371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314432"}
subset: ordo_malformation_syndrome {source="Orphanet:314432"}
subset: orphanet_rare {source="Orphanet:314432"}
subset: rare
xref: GARD:21371 {source="MONDO:GARD"}
xref: ICD10CM:K43.6 {source="Orphanet:314432/ntbt", source="Orphanet:314432"}
xref: MEDGEN:1662076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314432 {source="MONDO:equivalentTo"}
xref: UMLS:C4751074 {source="MEDGEN:1662076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0017799
name: Meigs syndrome
def: "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." [NCIT:C3223]
subset: gard_rare {source="GARD:21372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:314451"}
subset: ordo_disorder {source="Orphanet:314451"}
subset: orphanet_rare {source="Orphanet:314451"}
subset: rare
synonym: "Demons-Meigs syndrome" EXACT [Orphanet:314451]
synonym: "Meigs' syndrome" EXACT [NCIT:C3223]
xref: GARD:21372 {source="MONDO:GARD"}
xref: ICD10CM:D27 {source="Orphanet:314451/ntbt", source="Orphanet:314451"}
xref: icd11.foundation:1050919535 {source="MONDO:equivalentTo", source="Orphanet:314451", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:629.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10027139 {source="Orphanet:314451/e", source="Orphanet:314451"}
xref: MEDGEN:6287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008539 {source="MONDO:equivalentTo"}
xref: NCIT:C3223 {source="MONDO:equivalentTo"}
xref: Orphanet:314451 {source="MONDO:equivalentTo"}
xref: SCTID:63402005 {source="MONDO:equivalentTo"}
xref: UMLS:C0025184 {source="MEDGEN:6287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000646 {source="Orphanet:314451"} ! ovarian benign neoplasm
is_a: MONDO:0021058 {source="NCIT:C3223"} ! neoplastic syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare
relationship: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0017800
name: pseudo-Meigs syndrome
subset: gard_rare {source="GARD:21373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:314459"}
subset: ordo_disorder {source="Orphanet:314459"}
subset: orphanet_rare {source="Orphanet:314459"}
subset: rare
synonym: "pseudo-Demons-Meigs syndrome" EXACT [Orphanet:314459]
xref: GARD:21373 {source="MONDO:GARD"}
xref: ICD10CM:D27 {source="Orphanet:314459/ntbt", source="Orphanet:314459"}
xref: MEDGEN:1678402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314459 {source="MONDO:equivalentTo"}
xref: UMLS:C5190824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678402"}
is_a: MONDO:0000646 {source="Orphanet:314459"} ! ovarian benign neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare

[Term]
id: MONDO:0017801
name: atypical Meigs syndrome
subset: gard_rare {source="GARD:21374", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:314466"}
subset: ordo_disorder {source="Orphanet:314466"}
subset: orphanet_rare {source="Orphanet:314466"}
subset: rare
synonym: "atypical Demons-Meigs syndrome" EXACT [Orphanet:314466]
synonym: "incomplete Meigs syndrome" EXACT [Orphanet:314466]
xref: GARD:21374 {source="MONDO:GARD"}
xref: ICD10CM:D27 {source="Orphanet:314466", source="Orphanet:314466/ntbt"}
xref: MEDGEN:1676202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314466 {source="MONDO:equivalentTo"}
xref: UMLS:C5190605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676202"}
is_a: MONDO:0000646 {source="Orphanet:314466"} ! ovarian benign neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare

[Term]
id: MONDO:0017802
name: ovarian fibrothecoma
def: "A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad)." [Orphanet:314478]
subset: gard_rare {source="GARD:21376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314478"}
subset: orphanet_rare {source="Orphanet:314478"}
subset: rare
xref: GARD:21376 {source="MONDO:GARD"}
xref: ICD10CM:D27 {source="Orphanet:314478", source="Orphanet:314478/ntbt"}
xref: MEDGEN:1635957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314478 {source="MONDO:equivalentTo"}
xref: SCTID:765190005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635957"}
is_a: MONDO:0000646 {source="Orphanet:314478"} ! ovarian benign neoplasm
is_a: MONDO:0006055 {source="Orphanet:314478"} ! sex cord-stromal tumor
is_a: MONDO:0700036 {source="https://orcid.org/0000-0002-4142-7153"} ! fibrothecoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019965"} ! rare

[Term]
id: MONDO:0017803
name: primary progressive apraxia of speech
subset: gard_rare {source="GARD:21377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314566"}
subset: orphanet_rare {source="Orphanet:314566"}
subset: rare
synonym: "PPAOS" EXACT ABBREVIATION [Orphanet:314566]
xref: GARD:21377 {source="MONDO:GARD"}
xref: Orphanet:314566 {source="MONDO:equivalentTo"}
is_a: MONDO:0005559 {source="Orphanet:314566"} ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare

[Term]
id: MONDO:0017804
name: autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
def: "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures." [Orphanet:314572]
subset: gard_rare {source="GARD:21378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314572"}
subset: orphanet_rare {source="Orphanet:314572"}
subset: rare
xref: GARD:21378 {source="MONDO:GARD"}
xref: MEDGEN:1654941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314572 {source="MONDO:equivalentTo"}
xref: UMLS:C4749919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1654941"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0017805
name: intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
subset: gard_rare {source="GARD:21379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314575"}
subset: ordo_malformation_syndrome {source="Orphanet:314575"}
subset: orphanet_rare {source="Orphanet:314575"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21379 {source="MONDO:GARD"}
xref: MEDGEN:1655593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314575 {source="MONDO:equivalentTo"}
xref: UMLS:C4751073 {source="MEDGEN:1655593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:314575"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100239 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited hypertrophic pyloric stenosis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:314575", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017806
name: 15q overgrowth syndrome
def: "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." [Orphanet:314585]
subset: gard_rare {source="GARD:17423", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314585"}
subset: ordo_malformation_syndrome {source="Orphanet:314585"}
subset: orphanet_rare {source="Orphanet:314585"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "15q26 overgrowth syndrome" EXACT [DECIPHER:81]
xref: DECIPHER:81 {source="MONDO:equivalentTo"}
xref: GARD:17423 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:314585/attributed", source="Orphanet:314585/ntbt", source="Orphanet:314585"}
xref: MEDGEN:1661769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314585 {source="MONDO:equivalentTo"}
xref: UMLS:C4749920 {source="MEDGEN:1661769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:314585"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016965 {source="Orphanet:314585"} ! partial duplication of the long arm of chromosome 15
is_a: MONDO:0019716 {source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:314585", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:314585", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare

[Term]
id: MONDO:0017807
name: growing teratoma syndrome
def: "A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment." [NCIT:C118370]
subset: gard_rare {source="GARD:21380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:314613"}
subset: ordo_disorder {source="Orphanet:314613"}
subset: orphanet_rare {source="Orphanet:314613"}
subset: rare
synonym: "GTS" EXACT ABBREVIATION [NCIT:C118370]
xref: GARD:21380 {source="MONDO:GARD"}
xref: MEDGEN:856083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118370 {source="MONDO:equivalentTo"}
xref: Orphanet:314613 {source="MONDO:equivalentTo"}
xref: UMLS:C3891714 {source="MEDGEN:856083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021058 {source="NCIT:C118370"} ! neoplastic syndrome
relationship: excluded_subClassOf MONDO:0020539 {source="Orphanet:314613", source="https://orcid.org/0000-0001-5208-3432"} ! extragonadal non-dysgerminomatous germ cell tumor
relationship: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0017808
name: duplication of the pituitary gland
subset: gard_rare {source="GARD:21381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314621"}
subset: ordo_morphological_anomaly {source="Orphanet:314621"}
subset: orphanet_rare {source="Orphanet:314621"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DPG-plus syndrome" EXACT [Orphanet:314621]
synonym: "Duplication of the pituitary gland-plus syndrome" EXACT [Orphanet:314621]
synonym: "hypophyseal duplication" EXACT [Orphanet:314621]
xref: GARD:21381 {source="MONDO:GARD"}
xref: ICD10CM:Q89.2 {source="Orphanet:314621", source="Orphanet:314621/attributed", source="Orphanet:314621/ntbt"}
xref: MEDGEN:1663161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314621 {source="MONDO:equivalentTo"}
xref: UMLS:C4755258 {source="MEDGEN:1663161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted"} ! endocrine system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017809
name: parkinsonism due to ATP13A2 deficiency
subset: gard_rare {source="GARD:17427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314632"}
subset: orphanet_rare {source="Orphanet:314632"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CLN12 disease" EXACT [Orphanet:314632]
xref: GARD:17427 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:314632", source="Orphanet:314632/attributed", source="Orphanet:314632/ntbt"}
xref: Orphanet:314632 {source="MONDO:equivalentTo"}
is_a: MONDO:0011706 ! Kufor-Rakeb syndrome
is_a: MONDO:0016295 {source="Orphanet:314632"} ! neuronal ceroid lipofuscinosis

[Term]
id: MONDO:0017810
name: variant ABeta2M amyloidosis
def: "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." [Orphanet:314652]
subset: gard_rare {source="GARD:21382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314652"}
subset: orphanet_rare {source="Orphanet:314652"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant beta2-microglobulinic amyloidosis" EXACT [Orphanet:314652]
xref: DOID:0080929 {source="MONDO:equivalentTo"}
xref: GARD:21382 {source="MONDO:GARD"}
xref: ICD10CM:E85.1 {source="Orphanet:314652/attributed", source="Orphanet:314652/ntbt", source="Orphanet:314652"}
xref: MEDGEN:928338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314652 {source="MONDO:equivalentTo"}
xref: SCTID:722292000 {source="MONDO:equivalentTo"}
xref: UMLS:C4302669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928338"}
is_a: MONDO:0018590 {source="Orphanet:314652"} ! ABeta2M amyloidosis
is_a: MONDO:0018634 {source="Orphanet:314652"} ! hereditary amyloidosis

[Term]
id: MONDO:0017811
name: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
subset: gard_rare {source="GARD:21383", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314655"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5q31.3 microdeletion syndrome" EXACT [Orphanet:314655]
synonym: "Del(5)(q31.3)" EXACT [Orphanet:314655]
synonym: "monosomy 5q31.3" EXACT [Orphanet:314655]
xref: GARD:21383 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:314655/attributed", source="Orphanet:314655/ntbt", source="Orphanet:314655"}
xref: MEDGEN:1636705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314655 {source="MONDO:equivalentTo"}
xref: SCTID:768555009 {source="MONDO:equivalentTo"}
xref: UMLS:C4708510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636705"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0016904 {source="Orphanet:314655"} ! partial deletion of the long arm of chromosome 5
relationship: disease_arises_from_structure CHR:9606-chr5q31.3 {source="https://orcid.org/0000-0002-4142-7153"} ! 5q31.3 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017812
name: segmental progressive overgrowth syndrome with fibroadipose hyperplasia
def: "A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated." [Orphanet:314662]
subset: gard_rare {source="GARD:21384", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314662"}
subset: orphanet_rare {source="Orphanet:314662"}
subset: rare
xref: GARD:21384 {source="MONDO:GARD"}
xref: MEDGEN:1673986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314662 {source="MONDO:equivalentTo"}
xref: UMLS:C5192432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673986"}
is_a: MONDO:1040002 {source="PMID:23592320", source="PMID:23946963", source="PMID:25557259", source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3CA-related overgrowth spectrum
relationship: excluded_subClassOf MONDO:0019716 {source="https://orcid.org/0000-0002-0587-4693"} ! overgrowth syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5210" xsd:anyURI

[Term]
id: MONDO:0017813
name: van Maldergem syndrome
def: "Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia." [Orphanet:314679]
subset: gard_rare {source="GARD:5456", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314679"}
subset: ordo_malformation_syndrome {source="Orphanet:314679"}
subset: orphanet_rare {source="Orphanet:314679"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebro-facio-articular syndrome" EXACT [DOID:0060238]
synonym: "cerebro-facio-articular syndrome of Van Maldergem" RELATED [GARD:0005456]
synonym: "Van Maldergem syndrome" EXACT [Orphanet:314679]
synonym: "Van Maldergem Wetzburger Verloes syndrome" RELATED [GARD:0005456]
xref: DOID:0060238 {source="MONDO:equivalentTo"}
xref: GARD:5456 {source="MONDO:GARD"}
xref: MEDGEN:318616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536530 {source="DOID:0060238"}
xref: OMIMPS:601390 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:314679 {source="MONDO:equivalentTo", source="DOID:0060238"}
xref: UMLS:C1832390 {source="MONDO:equivalentTo", source="MEDGEN:318616", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:314679"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:314679", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601390"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017814
name: primary bone lymphoma
def: "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." [NCIT:C6620]
subset: gard_rare {source="GARD:21385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314684"}
subset: orphanet_rare {source="Orphanet:314684"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone lymphoma" RELATED [DOID:6759]
synonym: "bone tissue lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymphoma of bone" EXACT [DOID:6759]
synonym: "lymphoma of bone tissue" EXACT [MONDO:design_pattern]
synonym: "lymphoma of the bone" EXACT [DOID:6759]
synonym: "primary lymphoma of bone" EXACT [NCIT:C6620]
synonym: "primary lymphoma of the bone" EXACT [NCIT:C6620]
xref: DOID:6759 {source="MONDO:equivalentTo"}
xref: GARD:21385 {source="MONDO:GARD"}
xref: ICD10CM:C85\,7 {source="Orphanet:314684"}
xref: MEDGEN:231451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6620 {source="MONDO:equivalentTo", source="DOID:6759"}
xref: Orphanet:314684 {source="MONDO:equivalentTo"}
xref: SCTID:766935007 {source="MONDO:equivalentTo"}
xref: UMLS:C1332582 {source="MEDGEN:231451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002129 {source="NCIT:C6620"} ! bone cancer
is_a: MONDO:0017207 {source="Orphanet:314684"} ! primary organ-specific lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue
relationship: excluded_subClassOf MONDO:0002129 {source="DOID:6759", source="https://orcid.org/0000-0001-5208-3432"} ! bone cancer

[Term]
id: MONDO:0017815
name: acquired porencephaly
def: "An instance of porencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="GARD:21386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:314697"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314697"}
subset: rare
synonym: "acquired porencephaly" EXACT [MONDO:patterns/acquired]
xref: GARD:21386 {source="MONDO:GARD"}
xref: ICD10CM:G93.0 {source="Orphanet:314697", source="Orphanet:314697/ntbt", source="Orphanet:314697/inclusion"}
xref: MEDGEN:508833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314697 {source="MONDO:equivalentTo"}
xref: SCTID:38837006 {source="MONDO:equivalentTo"}
xref: UMLS:C0151860 {source="MEDGEN:508833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017410 {source="MONDO:Redundant", source="Orphanet:314697"} ! porencephaly
intersection_of: MONDO:0017410 ! porencephaly
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0017816
name: primary systemic amyloidosis
def: "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement." [Orphanet:314701]
subset: gard_rare {source="GARD:17431", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314701"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "systemic AL amyloidosis" EXACT [Orphanet:314701]
synonym: "systemic amyloidosis" EXACT [NCIT:C8299]
synonym: "systemic Immunoglobulin Light chain amyloidosis" EXACT [NCIT:C8299]
xref: GARD:17431 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"}
xref: ICD10CM:E85.1 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"}
xref: ICD10CM:E85.2 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"}
xref: ICD10CM:E85.3 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"}
xref: MEDGEN:129028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200209 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8299 {source="MONDO:equivalentTo"}
xref: Orphanet:314701 {source="MONDO:equivalentTo"}
xref: SCTID:89449005 {source="MONDO:equivalentTo"}
xref: UMLS:C0281479 {source="MEDGEN:129028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019438 {source="Orphanet:314701"} ! AL amyloidosis

[Term]
id: MONDO:0017817
name: primary localized amyloidosis
def: "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." [Orphanet:314709]
subset: gard_rare {source="GARD:21387", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314709"}
subset: rare
synonym: "localised AL amyloidosis" EXACT OMO:0003005 []
synonym: "localized AL amyloidosis" EXACT [Orphanet:314709]
xref: GARD:21387 {source="MONDO:GARD"}
xref: ICD10CM:E85.4 {source="Orphanet:314709/specific", source="Orphanet:314709/e", source="Orphanet:314709"}
xref: MEDGEN:1842348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314709 {source="MONDO:equivalentTo"}
xref: UMLS:C5679901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842348"}
is_a: MONDO:0019438 {source="Orphanet:314709"} ! AL amyloidosis

[Term]
id: MONDO:0017818
name: lethal arteriopathy syndrome due to fibulin-4 deficiency
subset: gard_rare {source="GARD:17432", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314718"}
subset: orphanet_rare {source="Orphanet:314718"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17432 {source="MONDO:GARD"}
xref: MEDGEN:1673111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314718 {source="MONDO:equivalentTo"}
xref: UMLS:C5190604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673111"}
is_a: MONDO:0005385 {source="Orphanet:314718", source="Orphanet:314718/inferred"} ! vascular disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare

[Term]
id: MONDO:0017819
name: atypical dentin dysplasia due to SMOC2 deficiency
subset: gard_rare {source="GARD:17433", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314721"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dentin dysplasia type 1 with microdontia and shape anomalies" EXACT [Orphanet:314721]
xref: GARD:17433 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="Orphanet:314721/attributed", source="Orphanet:314721/ntbt", source="Orphanet:314721"}
xref: MEDGEN:1673452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314721 {source="MONDO:equivalentTo"}
xref: UMLS:C5190802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673452"}
is_a: MONDO:0007436 ! dentin dysplasia type I

[Term]
id: MONDO:0017820
name: obsolete obsolete disease with Cushing syndrome as a major feature
def: "OBSOLETE. A disease in which Cushing syndrome is a major feature." [https://orcid.org/0000-0002-6601-2165]
comment: This is a disease with a phenotype as a feature and is used as a grouping class but does not seem clinically relevant. The parent is wrong, this class is not a type of 'Cushing syndrome'.
subset: ordo_group_of_disorders {source="Orphanet:314749"}
synonym: "rare disease with Cushing syndrome as a major feature" EXACT [Orphanet:314749]
xref: GARD:21388 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:314749 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1522" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017821
name: obsolete functioning pituitary adenoma
is_obsolete: true
replaced_by: MONDO:0003429

[Term]
id: MONDO:0017822
name: mixed functioning pituitary adenoma
subset: disease_grouping
subset: gard_rare {source="GARD:21390", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:314759"}
subset: rare
synonym: "mixed secreting pituitary adenoma" EXACT [Orphanet:314759]
xref: GARD:21390 {source="MONDO:GARD"}
xref: MEDGEN:577354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314759 {source="MONDO:equivalentTo"}
xref: SCTID:254961003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346305 {source="MEDGEN:577354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003429 {source="Orphanet:314759"} ! functioning pituitary gland adenoma

[Term]
id: MONDO:0017823
name: somatomammotropinoma
subset: gard_rare {source="GARD:21391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314769"}
subset: orphanet_rare {source="Orphanet:314769"}
subset: rare
synonym: "GH and PRL cosecreting pituitary adenoma" EXACT [Orphanet:314769]
synonym: "Growth hormone and prolactin cosecreting pituitary adenoma" EXACT [Orphanet:314769]
synonym: "Somatolactotropinoma" EXACT [Orphanet:314769]
synonym: "Somatoprolactinoma" EXACT [Orphanet:314769]
xref: GARD:21391 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:314769", source="Orphanet:314769/ntbt"}
xref: MEDGEN:1649254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314769 {source="MONDO:equivalentTo"}
xref: UMLS:C4755297 {source="MEDGEN:1649254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017822 {source="Orphanet:314769"} ! mixed functioning pituitary adenoma

[Term]
id: MONDO:0017824
name: familial isolated pituitary adenoma
comment: Editor note: TODO check this
subset: gard_rare {source="GARD:10959", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314777"}
subset: orphanet_rare {source="Orphanet:314777"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FIPA" EXACT ABBREVIATION [Orphanet:314777]
xref: GARD:10959 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="Orphanet:314777", source="MONDO:relatedTo", source="Orphanet:314777/ntbt"}
xref: MEDGEN:436629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:102200 {source="MONDO:equivalentTo"}
xref: Orphanet:314777 {source="MONDO:equivalentTo"}
xref: SCTID:702375004 {source="MONDO:equivalentTo"}
xref: UMLS:C2676191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436629"}
intersection_of: MONDO:0006373 ! pituitary gland adenoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:102200"} ! inherited

[Term]
id: MONDO:0017825
name: silent pituitary adenoma
subset: gard_rare {source="GARD:21392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:314786"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314786"}
subset: rare
xref: GARD:21392 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="Orphanet:314786", source="MONDO:relatedTo", source="Orphanet:314786/ntbt"}
xref: MEDGEN:90850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314786 {source="MONDO:equivalentTo"}
xref: UMLS:C0338078 {source="MEDGEN:90850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019613 {source="Orphanet:314786"} ! non-functioning pituitary adenoma

[Term]
id: MONDO:0017826
name: null pituitary adenoma
subset: gard_rare {source="GARD:21393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:314790"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314790"}
subset: rare
xref: GARD:21393 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:314790/ntbt", source="Orphanet:314790"}
xref: MEDGEN:1813085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314790 {source="MONDO:equivalentTo"}
xref: UMLS:C5680967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1813085"}
is_a: MONDO:0019613 {source="Orphanet:314790"} ! non-functioning pituitary adenoma

[Term]
id: MONDO:0017827
name: malignant peripheral nerve sheath tumor
def: "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites." [Orphanet:3148]
subset: gard_rare {source="GARD:10872", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3148"}
subset: orphanet_rare {source="Orphanet:3148"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Malig. periph. nerve sheath tum." EXACT [NCIT:C3798]
synonym: "malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C3798]
synonym: "malignant neoplasm of the peripheral nerve sheath" EXACT [DOID:5940, NCIT:C3798]
synonym: "malignant neurilemmoma" EXACT [NCIT:C3798, Orphanet:3148]
synonym: "malignant neurilemoma" EXACT [NCIT:C3798]
synonym: "malignant neurofibroma" EXACT [Orphanet:3148]
synonym: "malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C3798]
synonym: "malignant peripheral nerve sheath tumor" EXACT [NCIT:C3798]
synonym: "malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:5940]
synonym: "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" EXACT [DOID:5940]
synonym: "malignant peripheral nerve sheath tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "malignant peripheral nerve sheath tumour [dup] (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "malignant schwannoma" EXACT [NCIT:C3798, Orphanet:3148]
synonym: "malignant tumor of peripheral nerve sheath" EXACT [NCIT:C3798]
synonym: "malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C3798]
synonym: "malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 []
synonym: "MPNST" EXACT ABBREVIATION [NCIT:C3798, Orphanet:3148]
synonym: "neurofibrosarcoma" BROAD [NCIT:C3798, Orphanet:3148]
synonym: "neurofibrosarcoma, malignant" EXACT [NCIT:C3798]
synonym: "neurogenic sarcoma" EXACT [NCIT:C3798, Orphanet:3148]
synonym: "schwannoma, malignant" EXACT [NCIT:C3798]
xref: DOID:5940 {source="MONDO:equivalentTo"}
xref: EFO:0000760 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10872 {source="MONDO:GARD"}
xref: ICD10CM:C47.9 {source="Orphanet:3148/ntbt", source="Orphanet:3148"}
xref: icd11.foundation:71413945 {source="Orphanet:3148", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9540/3 {source="NCIT:C3798"}
xref: ICDO:9560/3 {source="NCIT:C3798"}
xref: MedDRA:10029236 {source="Orphanet:3148", source="Orphanet:3148/e"}
xref: MEDGEN:155614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009442 {source="DOID:5940"}
xref: NANDO:2200102 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3798 {source="DOID:5940", source="MONDO:equivalentTo"}
xref: ONCOTREE:MPNST {source="MONDO:equivalentTo"}
xref: Orphanet:3148 {source="MONDO:equivalentTo"}
xref: SCTID:134324009 {source="DOID:5940"}
xref: SCTID:189949003 {source="DOID:5940"}
xref: SCTID:19897006 {source="DOID:5940"}
xref: SCTID:404037002 {source="DOID:5940", source="MONDO:equivalentTo"}
xref: SCTID:77418004 {source="DOID:5940"}
xref: UMLS:C0751690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155614"}
is_a: MONDO:0002547 {source="DOID:5940", source="NCIT:C3798", source="ONCOTREE:MPNST"} ! nerve sheath neoplasm
is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C3798"} ! sarcoma
is_a: MONDO:0016749 {source="Orphanet:3148"} ! tumor of cranial and spinal nerves
is_a: MONDO:0018078 {source="Orphanet:3148"} ! soft tissue sarcoma
is_a: MONDO:0021089 {source="MONDO:Redundant", source="NCIT:C3798"} ! peripheral nervous system cancer

[Term]
id: MONDO:0017828
name: obsolete primary renal tubular acidosis
subset: ordo_group_of_disorders {source="Orphanet:314822"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:7552 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N25.8 {source="Orphanet:314822/attributed", source="Orphanet:314822/ntbt", source="Orphanet:314822"}
xref: Orphanet:314822 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017829
name: autosomal dominant proximal renal tubular acidosis
def: "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." [Orphanet:314889]
subset: gard_rare {source="GARD:21394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314889"}
subset: rare
synonym: "AD pRTA" EXACT [Orphanet:314889]
synonym: "proximal renal tubular acidosis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:21394 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:314889/attributed", source="Orphanet:314889/ntbt", source="Orphanet:314889"}
xref: MEDGEN:1842780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314889 {source="MONDO:equivalentTo"}
xref: UMLS:C5679902 {source="MEDGEN:1842780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008369 {source="MONDO:Redundant", source="Orphanet:314889"} ! proximal renal tubular acidosis
intersection_of: MONDO:0008369 ! proximal renal tubular acidosis
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0017830
name: severe Canavan disease
def: "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." [Orphanet:314911]
subset: gard_rare {source="GARD:17437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314911"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile Canavan disease" EXACT [Orphanet:314911]
synonym: "neonatal Canavan disease" EXACT [Orphanet:314911]
xref: GARD:17437 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:314911/attributed", source="Orphanet:314911/ntbt", source="Orphanet:314911"}
xref: MEDGEN:1826002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314911 {source="MONDO:equivalentTo"}
xref: UMLS:C5575558 {source="MEDGEN:1826002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010079 {source="Orphanet:314911"} ! Canavan disease

[Term]
id: MONDO:0017831
name: mild Canavan disease
def: "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." [Orphanet:314918]
subset: gard_rare {source="GARD:17438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314918"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile Canavan disease" EXACT [Orphanet:314918]
xref: GARD:17438 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:314918/attributed", source="Orphanet:314918/ntbt", source="Orphanet:314918"}
xref: MEDGEN:865564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314918 {source="MONDO:equivalentTo"}
xref: UMLS:C4017127 {source="MEDGEN:865564", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010079 {source="Orphanet:314918"} ! Canavan disease

[Term]
id: MONDO:0017832
name: Mycobacterium xenopi infection
def: "A disease caused by infection with Mycobacterium xenopi." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "M. xenopi" RELATED [GARD:0010550]
synonym: "Mycobacterium xenopi" RELATED [GARD:0010550]
synonym: "Mycobacterium xenopi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium xenopi disease or disorder" EXACT []
synonym: "Mycobacterium xenopi infectious disease" EXACT []
xref: ICD10CM:A31.8 {source="Orphanet:314946", source="Orphanet:314946/ntbt"}
xref: MEDGEN:546776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314946 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0275715 {source="MEDGEN:546776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="Orphanet:314946"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1789 ! Mycobacterium xenopi
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0017833
name: primary hypereosinophilic syndrome
subset: gard_rare {source="GARD:21395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314950"}
subset: orphanet_rare {source="Orphanet:314950"}
subset: rare
synonym: "clonal hypereosinophilic syndrome" EXACT [Orphanet:314950]
synonym: "HES-M" EXACT [Orphanet:314950]
synonym: "HES-N" EXACT [Orphanet:314950]
synonym: "neoplastic hypereosinophilic syndrome" EXACT [Orphanet:314950]
synonym: "primary HES" EXACT [Orphanet:314950]
xref: GARD:21395 {source="MONDO:GARD"}
xref: MEDGEN:1830089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314950 {source="MONDO:equivalentTo"}
xref: UMLS:C5679898 {source="MONDO:equivalentTo", source="MEDGEN:1830089", source="MONDO:MEDGEN"}
is_a: MONDO:0015691 {source="Orphanet:314950"} ! hypereosinophilic syndrome

[Term]
id: MONDO:0017834
name: secondary hypereosinophilic syndrome
subset: gard_rare {source="GARD:21396", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:314962"}
subset: orphanet_rare {source="Orphanet:314962"}
subset: rare
synonym: "HES-R" EXACT [Orphanet:314962]
synonym: "reactive hypereosinophilic syndrome" EXACT [Orphanet:314962]
synonym: "secondary HES" EXACT [Orphanet:314962]
xref: GARD:21396 {source="MONDO:GARD"}
xref: MEDGEN:1814441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314962 {source="MONDO:equivalentTo"}
xref: UMLS:C5679897 {source="MEDGEN:1814441", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015691 {source="Orphanet:314962"} ! hypereosinophilic syndrome

[Term]
id: MONDO:0017835
name: lymphocytic hypereosinophilic syndrome
subset: gard_rare {source="GARD:21397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:314970"}
subset: rare
synonym: "HES-L" EXACT [Orphanet:314970]
synonym: "lymphocytic variant HES" EXACT [Orphanet:314970]
synonym: "lymphoid HES" EXACT [Orphanet:314970]
xref: GARD:21397 {source="MONDO:GARD"}
xref: MEDGEN:1714468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:314970 {source="MONDO:equivalentTo"}
xref: UMLS:C5396402 {source="MONDO:equivalentTo", source="MEDGEN:1714468", source="MONDO:MEDGEN"}
is_a: MONDO:0017834 {source="Orphanet:314970"} ! secondary hypereosinophilic syndrome

[Term]
id: MONDO:0017836
name: erythrokeratoderma en cocardes
def: "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant." [Orphanet:315]
subset: gard_rare {source="GARD:1722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:315"}
subset: orphanet_rare {source="Orphanet:315"}
subset: rare
synonym: "Degos 'en cocarde' erythrokeratoderma" RELATED [GARD:0001722]
synonym: "Degos genodermatosis" EXACT [Orphanet:315]
synonym: "Degos genodermatosis \"en cocardes\"" EXACT [Orphanet:315]
synonym: "Degos genodermatosis 'en cocardes'" RELATED [GARD:0001722]
synonym: "erythrokeratoderma \"en cocardes\"" RELATED [Orphanet:315]
synonym: "erythrokeratoderma ''en cocardes''" RELATED [Orphanet:315]
synonym: "erythrokeratoderma 'en cocardes'" RELATED [GARD:0001722]
xref: GARD:1722 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:315", source="Orphanet:315/attributed", source="Orphanet:315/ntbt"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:315 {source="GARD:0001722", source="MONDO:equivalentTo"}
xref: SCTID:239062001 {source="MONDO:equivalentTo"}
is_a: MONDO:0019270 {source="Orphanet:315"} ! erythrokeratoderma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1722/degos-en-cocarde-erythrokeratoderma" xsd:anyURI {source="GARD:0001722"}

[Term]
id: MONDO:0017837
name: multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
def: "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." [Orphanet:3151]
subset: gard_rare {source="GARD:18787", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3151"}
subset: orphanet_rare {source="Orphanet:3151"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18787 {source="MONDO:GARD"}
xref: ICD10CM:G37.8 {source="Orphanet:3151/attributed", source="Orphanet:3151/ntbt", source="Orphanet:3151"}
xref: MEDGEN:1391655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3151 {source="MONDO:equivalentTo"}
xref: UMLS:C4518551 {source="MEDGEN:1391655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0017838
name: sclerosteosis
def: "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure." [Orphanet:3152]
subset: gard_rare {source="GARD:4771", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3152"}
subset: ordo_malformation_syndrome {source="Orphanet:3152"}
subset: orphanet_rare {source="Orphanet:3152"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cortical hyperostosis with syndactyly" EXACT [NCIT:C131133]
synonym: "cortical hyperostosis-syndactyly syndrome" EXACT [Orphanet:3152]
xref: DOID:0060251 {source="MONDO:equivalentTo"}
xref: GARD:4771 {source="MONDO:GARD"}
xref: ICD10CM:M85.2 {source="Orphanet:3152/attributed", source="Orphanet:3152/ntbt", source="Orphanet:3152"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537525 {source="Orphanet:3152/e", source="MONDO:equivalentTo", source="Orphanet:3152", source="DOID:0060251"}
xref: NANDO:2201369 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131133 {source="MONDO:equivalentTo"}
xref: OMIMPS:269500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:3152 {source="MONDO:equivalentTo", source="DOID:0060251"}
xref: SCTID:17568006 {source="MONDO:equivalentTo", source="DOID:0060251"}
xref: UMLS:C0265301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120530"}
is_a: MONDO:0002185 {source="DOID:0060251", source="MESH:C537525"} ! hyperostosis
relationship: disease_has_feature HP:0011001 {source="Orphanet:3152"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:3152", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:269500"} ! inherited

[Term]
id: MONDO:0017839
name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
def: "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." [Orphanet:315306]
subset: gard_rare {source="GARD:21398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:315306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic 21-OHD CAH, salt wasting form" EXACT [Orphanet:315306]
xref: GARD:21398 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:315306/attributed", source="Orphanet:315306/ntbt", source="Orphanet:315306"}
xref: MEDGEN:1826062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:315306 {source="MONDO:equivalentTo"}
xref: UMLS:C5679896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826062"}
is_a: MONDO:0008728 {source="Orphanet:315306"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

[Term]
id: MONDO:0017840
name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
def: "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." [Orphanet:315311]
subset: gard_rare {source="GARD:21399", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:315311"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic 21-OHD CAH, simple virilizing form" EXACT [Orphanet:315311]
xref: GARD:21399 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:315311/attributed", source="Orphanet:315311/ntbt", source="Orphanet:315311"}
xref: MEDGEN:1826061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:315311 {source="MONDO:equivalentTo"}
xref: UMLS:C5679895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826061"}
is_a: MONDO:0008728 {source="Orphanet:315311"} ! classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

[Term]
id: MONDO:0017841
name: obsolete autoimmune disease with skin involvement
def: "OBSOLETE. A hypersensitivity reaction type II disease that involves the skin of body." [MONDO:patterns/location]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoimmune disease'
subset: ordo_group_of_disorders {source="Orphanet:315350"}
synonym: "autoimmune disease of skin and connective tissue" EXACT [MONDO:0000593]
synonym: "integument hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
synonym: "skin of body hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location]
xref: DOID:0060039 {source="MONDO:obsoleteEquivalent"}
xref: GARD:21400 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:315350 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0007179

[Term]
id: MONDO:0017842
name: Senior-Loken syndrome
def: "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." [Orphanet:3156]
subset: gard_rare {source="GARD:322", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3156"}
subset: orphanet_rare {source="Orphanet:3156"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Loken Senior syndrome" EXACT [DOID:0050576]
synonym: "nephronophthisis with retinal dystrophy" EXACT [Orphanet:3156]
synonym: "renal dysplasia retinal aplasia" RELATED [GARD:0000322]
synonym: "renal dysplasia-retinal aplasia syndrome" EXACT [Orphanet:3156]
synonym: "renal-retinal syndrome" EXACT [DOID:0050576]
synonym: "Senior Loken syndrome" RELATED [GARD:0000322]
synonym: "SLSN" EXACT ABBREVIATION [Orphanet:3156]
xref: DOID:0050576 {source="MONDO:equivalentTo"}
xref: GARD:322 {source="MONDO:GARD"}
xref: ICD10CM:Q61.5 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/attributed", source="Orphanet:3156/ntbt"}
xref: MEDGEN:96045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537580 {source="Orphanet:3156", source="MONDO:equivalentTo", source="Orphanet:3156/e"}
xref: NANDO:1201049 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C168588 {source="MONDO:equivalentTo"}
xref: OMIMPS:266900 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:3156 {source="DOID:0050576", source="MONDO:equivalentTo"}
xref: UMLS:C0403553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96045"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0006025 {source="DOID:0050576", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015962 {source="Orphanet:3156"} ! inherited renal tubular disease
relationship: disease_has_feature HP:0000090 ! Nephronophthisis
relationship: has_characteristic HP:0000007 {source="Orphanet:3156"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:266900"} ! inherited

[Term]
id: MONDO:0017843
name: congenital pulmonary sequestration
def: "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation." [NCIT:C97124]
subset: gard_rare {source="GARD:4593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3161"}
subset: ordo_malformation_syndrome {source="Orphanet:3161"}
subset: orphanet_rare {source="Orphanet:3161"}
subset: rare
synonym: "bronchopulmonary sequestration" EXACT [NCIT:C97124]
synonym: "congenital bronchopulmonary sequestration" EXACT [Orphanet:3161]
synonym: "congenital sequestration of lung" EXACT [NCIT:C97124]
synonym: "pulmonary sequestration" EXACT [GARD:0004593, NCIT:C97124]
synonym: "sequestered lobe (pulmonary sequestration)" EXACT [NCIT:C97124]
xref: GARD:4593 {source="MONDO:GARD"}
xref: ICD10CM:Q33.2 {source="Orphanet:3161/e", source="Orphanet:3161"}
xref: icd11.foundation:1833083626 {source="MONDO:equivalentTo", source="Orphanet:3161", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:892881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001998 {source="MONDO:equivalentTo"}
xref: NCIT:C97124 {source="MONDO:equivalentTo"}
xref: Orphanet:3161 {source="MONDO:equivalentTo"}
xref: SCTID:18620009 {source="MONDO:equivalentTo"}
xref: UMLS:C4020703 {source="MEDGEN:892881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="PMID:15222956", source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0017844
name: Sezary syndrome
def: "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." [Orphanet:3162]
subset: gard_rare {source="GARD:7629", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1707", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3162"}
subset: orphanet_rare {source="Orphanet:3162"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CTCL / Sezary syndrome" EXACT [NCIT:C3366]
synonym: "cutaneous T-cell lymphoma/Sezary syndrome" EXACT [NCIT:C3366]
synonym: "SC)zary syndrome" EXACT [NCIT:C3366]
synonym: "Sezary disease" EXACT [DOID:8541]
synonym: "Sezary lymphoma" EXACT [Orphanet:3162]
synonym: "Sezary syndrome" EXACT [DOID:8541, MTH:U002240, NCIT:C3366]
synonym: "Sezary's disease" EXACT [MONDO:0006628, NCIT:C3366]
synonym: "Sezary's lymphoma" RELATED [GARD:0007629]
synonym: "Sheehan Syndrome" EXACT [NORD:1707]
synonym: "SS" RELATED ABBREVIATION [ONCOTREE:SS]
synonym: "Sézary lymphoma" EXACT [Orphanet:3162]
synonym: "Sézary syndrome" EXACT [Orphanet:3162]
xref: DOID:8541 {source="MONDO:equivalentTo", source="EFO:1000785"}
xref: EFO:1000785 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7629 {source="MONDO:GARD"}
xref: ICD10CM:C84.1 {source="Orphanet:3162/ntbt", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"}
xref: ICD10CM:C84.10 {source="DOID:8541"}
xref: icd11.foundation:1358020385 {source="MONDO:equivalentTo", source="Orphanet:3162", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:202.2 {source="EFO:1000785", source="DOID:8541"}
xref: ICDO:9701/3 {source="NCIT:C3366"}
xref: MedDRA:10040493 {source="Orphanet:3162/e", source="Orphanet:3162"}
xref: MedDRA:10040500 {source="EFO:1000785"}
xref: MEDGEN:19959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012751 {source="Orphanet:3162/e", source="MONDO:equivalentTo", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"}
xref: NCIT:C3366 {source="MONDO:equivalentTo", source="DOID:8541"}
xref: NORD:1707 {source="MONDO:NORD"}
xref: ONCOTREE:SS {source="MONDO:equivalentTo"}
xref: Orphanet:3162 {source="MONDO:equivalentTo"}
xref: SCTID:118611004 {source="MONDO:equivalentTo", source="DOID:8541"}
xref: SCTID:188629004 {source="DOID:8541"}
xref: SCTID:188638002 {source="DOID:8541"}
xref: SCTID:4950009 {source="DOID:8541"}
xref: UMLS:C0036920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19959"}
is_a: MONDO:0000607 {source="DOID:8541", source="EFO:1000785", source="MESH:D012751"} ! primary cutaneous T-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0017845
name: spastic ataxia
subset: disease_grouping
subset: gard_rare {source="GARD:21401", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:316226"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPAX" EXACT ABBREVIATION [Orphanet:316226]
xref: DOID:0050952 {source="MONDO:equivalentTo"}
xref: GARD:21401 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:316226", source="Orphanet:316226/index", source="MONDO:relatedTo", source="Orphanet:316226/ntbt"}
xref: MEDGEN:376528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564815 {source="MONDO:equivalentTo"}
xref: OMIMPS:108600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:316226 {source="MONDO:equivalentTo"}
xref: UMLS:C1849156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376528"}
is_a: MONDO:0100309 {source="DOID:0050952", source="Orphanet:316226"} ! hereditary ataxia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:108600"} ! inherited

[Term]
id: MONDO:0017846
name: autosomal dominant spastic ataxia
def: "Autosomal dominant form of spastic ataxia." [MONDO:patterns/autosomal_dominant]
subset: disease_grouping
subset: gard_rare {source="GARD:21402", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:316235"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AD-SPAX" EXACT [Orphanet:316235]
synonym: "spastic ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:21402 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:316235/attributed", source="Orphanet:316235/ntbt", source="Orphanet:316235"}
xref: MEDGEN:1842682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:316235 {source="MONDO:equivalentTo"}
xref: UMLS:C5679899 {source="MEDGEN:1842682", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316235"} ! spastic ataxia
intersection_of: MONDO:0017845 ! spastic ataxia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0017847
name: autosomal recessive spastic ataxia
def: "Autosomal recessive form of spastic ataxia." [MONDO:patterns/autosomal_recessive]
subset: disease_grouping
subset: gard_rare {source="GARD:21403", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:316240"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-SPAX" EXACT [Orphanet:316240]
synonym: "spastic ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:21403 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:316240", source="Orphanet:316240/attributed", source="Orphanet:316240/ntbt"}
xref: MEDGEN:1826141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:316240 {source="MONDO:equivalentTo"}
xref: UMLS:C5679900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826141"}
is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316240"} ! spastic ataxia
intersection_of: MONDO:0017845 ! spastic ataxia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0017848
name: obsolete partial deletion of the short arm of chromosome 12
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022174

[Term]
id: MONDO:0017849
name: Siegler-Brewer-Carey syndrome
def: "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." [Orphanet:3167]
subset: gard_rare {source="GARD:4867", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3167"}
subset: ordo_malformation_syndrome {source="Orphanet:3167"}
subset: orphanet_rare {source="Orphanet:3167"}
subset: rare
synonym: "fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys" RELATED [GARD:0004867]
synonym: "Siegler Brewer Carey syndrome" RELATED [GARD:0004867]
xref: GARD:4867 {source="MONDO:GARD"}
xref: MEDGEN:419088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537335 {source="Orphanet:3167", source="MONDO:equivalentTo", source="Orphanet:3167/e"}
xref: Orphanet:3167 {source="MONDO:equivalentTo"}
xref: SCTID:721076000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419088"}
is_a: MONDO:0005087 {source="Orphanet:3167"} ! respiratory system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome" xsd:anyURI {source="GARD:0004867"}

[Term]
id: MONDO:0017850
name: sirenomelia
def: "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth." [Orphanet:3169]
subset: gard_rare {source="GARD:7652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1720"}
subset: ordo_disorder {source="Orphanet:3169"}
subset: ordo_malformation_syndrome {source="Orphanet:3169"}
subset: orphanet_rare {source="Orphanet:3169"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fused legs and feet" RELATED [GARD:0007652]
synonym: "mermaid malformation" RELATED [GARD:0007652]
synonym: "mermaid syndrome" RELATED [GARD:0007652]
synonym: "sirenomelia sequence" RELATED [GARD:0007652]
synonym: "Sirenomelus" RELATED [GARD:0007652]
synonym: "symmelia" EXACT [NCIT:C118455]
xref: GARD:7652 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:3169/inclusion", source="Orphanet:3169", source="Orphanet:3169/ntbt"}
xref: icd11.foundation:473306797 {source="Orphanet:3169", source="MONDO:equivalentTo"}
xref: MedDRA:10049216 {source="Orphanet:3169", source="Orphanet:3169/e"}
xref: MEDGEN:52357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538595 {source="Orphanet:3169", source="Orphanet:3169/e"}
xref: NCIT:C118455 {source="MONDO:equivalentTo"}
xref: NORD:1720 {source="MONDO:NORD"}
xref: Orphanet:3169 {source="MONDO:equivalentTo"}
xref: SCTID:67254002 {source="MONDO:equivalentTo"}
xref: UMLS:C0037205 {source="MEDGEN:52357", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010831 ! familial caudal dysgenesis

[Term]
id: MONDO:0017851
name: erythrokeratodermia variabilis
def: "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema." [https://orcid.org/0000-0001-5208-3432, NCIT:C84696]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:16528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1285"}
subset: ordo_disorder {source="Orphanet:317", source="Orphanet:316"}
subset: ordo_group_of_disorders {source="Orphanet:308166"}
subset: orphanet_rare {source="Orphanet:317", source="Orphanet:316"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Darier-Gottron disease" EXACT [Orphanet:316]
synonym: "EKV" EXACT ABBREVIATION [Orphanet:317]
synonym: "EKVP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133200]
synonym: "erythrokeratodermia figurata variabilis" EXACT [DOID:0050467]
synonym: "erythrokeratodermia figurata, congenital familial, in plaques" RELATED [GARD:0003096, MESH:C536154, OMIM:133200]
synonym: "erythrokeratodermia progressiva symmetrica" EXACT [Orphanet:316]
synonym: "erythrokeratodermia variabilis" EXACT CLINGEN_LABEL [OMIM:133200]
synonym: "erythrokeratodermia variabilis ET progressiva" RELATED [MONDO:Lexical, OMIM:133200]
synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis with erythema gyratum repens" RELATED [GARD:0003096, MESH:C536154]
synonym: "erythrokeratodermia variabilis, Mendes da Costa type" EXACT [Orphanet:317]
synonym: "erythrokeratodermia, progressive symmetric" RELATED [OMIM:133200]
synonym: "Greither disease" RELATED EXCLUDE [DOID:0050467]
synonym: "Greither's disease" RELATED EXCLUDE [GARD:0003096]
synonym: "Ichthyosis, Erythrokeratodermia Variabilis" EXACT [NORD:1285]
synonym: "keratoderma palmoplantaris transgrediens" RELATED [GARD:0003096]
synonym: "keratosis extremitatum hereditaria progrediens" RELATED [GARD:0003096]
synonym: "keratosis palmoplantaris transgrediens et progrediens" RELATED [GARD:0003096, MESH:C536154, OMIM:133200]
synonym: "progressive symmetric erythrokeratodermia" EXACT [Orphanet:316]
synonym: "progressive symmetric erythrokeratodermia, Gottron type" EXACT [Orphanet:316]
xref: DOID:0050467 {source="MONDO:equivalentTo"}
xref: GARD:16528 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:316/attributed", source="Orphanet:316/ntbt", source="Orphanet:317/attributed", source="Orphanet:317/ntbt", source="Orphanet:317", source="Orphanet:316", source="Orphanet:308166", source="Orphanet:308166/attributed", source="Orphanet:308166/ntbt"}
xref: MedDRA:10049048 {source="Orphanet:317", source="Orphanet:317/e"}
xref: MEDGEN:75587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536154 {source="MONDO:equivalentTo"}
xref: MESH:D056266 {source="DOID:0050467", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C84696 {source="DOID:0050467", source="MONDO:equivalentTo"}
xref: NORD:1285 {source="MONDO:NORD"}
xref: OMIMPS:133200 {source="MONDO:equivalentTo"}
xref: Orphanet:308166 {source="MONDO:equivalentTo"}
xref: Orphanet:316 {source="MONDO:equivalentTo", source="OMIM:133200"}
xref: Orphanet:317 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:133200"}
xref: Orphanet:495 {source="OMIM:133200", source="GARD:0003096"}
xref: SCTID:254184006 {source="DOID:0050467"}
xref: SCTID:70041004 {source="DOID:0050467", source="MONDO:equivalentTo"}
xref: UMLS:C0265961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75587"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019270 {source="Orphanet:308166"} ! erythrokeratoderma
relationship: excluded_subClassOf MONDO:0009490 {source="MESH:C536154", source="https://orcid.org/0000-0001-5208-3432"} ! Papillon-Lefevre disease
relationship: excluded_subClassOf MONDO:0017681 {source="Orphanet:316", source="Orphanet:317", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete erythrokeratoderma variabilis progressiva
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:133200"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6534" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens" xsd:anyURI {source="GARD:0003096"}

[Term]
id: MONDO:0017852
name: infantile spasms-broad thumbs syndrome
def: "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990." [Orphanet:3173]
subset: gard_rare {source="GARD:3002", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3173"}
subset: orphanet_rare {source="Orphanet:3173"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile spasms broad thumbs" RELATED [GARD:0003002]
synonym: "Tsao Ellingson syndrome" RELATED [GARD:0003002]
synonym: "Tsao-Ellingson syndrome" EXACT [Orphanet:3173]
xref: GARD:3002 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:3173/attributed", source="Orphanet:3173/ntbt", source="Orphanet:3173"}
xref: MEDGEN:1667345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3173 {source="GARD:0003002", source="MONDO:equivalentTo"}
xref: UMLS:C4749287 {source="MEDGEN:1667345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015650 {source="Orphanet:3173"} ! epilepsy syndrome
relationship: has_characteristic HP:0003593 {source="GARD:0003002"} ! Infantile onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs" xsd:anyURI {source="GARD:0003002"}

[Term]
id: MONDO:0017853
name: hypersensitivity pneumonitis
def: "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." [Orphanet:31740]
subset: disease_grouping
subset: gard_rare {source="GARD:12", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:761"}
subset: ordo_group_of_disorders {source="Orphanet:31740"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "allergic form of pneumonitis" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic interstitial pneumonitis" RELATED [GARD:0000012]
synonym: "allergic pneumonitis" EXACT [GARD:0000012, NCIT:C34369]
synonym: "alveolitis" EXACT [DOID:841]
synonym: "alveolitis, extrinsic allergic" RELATED [GARD:0000012]
synonym: "exogen allergic alveolitis" EXACT [https://orcid.org/0000-0003-0113-912Xf]
synonym: "extrinsic allergic alveolitis" EXACT [NCIT:C34369, Orphanet:31740]
synonym: "extrinsic allergic pneumonia hypersensitivity pneumonitis" RELATED [GARD:0000012]
synonym: "HP" EXACT ABBREVIATION [Orphanet:31740]
synonym: "hypersensitivity pneumonitis" EXACT [DOID:841, GARD:0000012, NCIT:C34369]
xref: DOID:841 {source="MONDO:equivalentTo"}
xref: GARD:12 {source="MONDO:GARD"}
xref: ICD10CM:J67.0 {source="Orphanet:31740", source="Orphanet:31740/btnt"}
xref: ICD10CM:J67.1 {source="Orphanet:31740", source="MONDO:relatedTo", source="Orphanet:31740/btnt"}
xref: ICD10CM:J67.2 {source="Orphanet:31740", source="Orphanet:31740/btnt", source="MONDO:directSiblingOf"}
xref: ICD10CM:J67.3 {source="Orphanet:31740", source="Orphanet:31740/btnt"}
xref: ICD10CM:J67.4 {source="Orphanet:31740", source="Orphanet:31740/btnt"}
xref: ICD10CM:J67.5 {source="Orphanet:31740", source="Orphanet:31740/btnt"}
xref: ICD10CM:J67.6 {source="Orphanet:31740", source="Orphanet:31740/btnt"}
xref: ICD10CM:J67.7 {source="Orphanet:31740", source="Orphanet:31740/btnt"}
xref: ICD10CM:J67.8 {source="Orphanet:31740", source="Orphanet:31740/btnt"}
xref: ICD10CM:J67.9 {source="Orphanet:31740", source="DOID:841", source="Orphanet:31740/btnt"}
xref: ICD9:495 {source="DOID:841"}
xref: ICD9:495.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:495.9 {source="DOID:841", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10001890 {source="Orphanet:31740", source="Orphanet:31740/e"}
xref: MEDGEN:1446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000542 {source="Orphanet:31740", source="DOID:841", source="MONDO:equivalentTo", source="Orphanet:31740/e"}
xref: NCIT:C34369 {source="DOID:841", source="MONDO:equivalentTo"}
xref: NORD:761 {source="MONDO:NORD"}
xref: Orphanet:31740 {source="GARD:0000012", source="MONDO:equivalentTo"}
xref: SCTID:155581001 {source="DOID:841"}
xref: SCTID:195993008 {source="DOID:841"}
xref: SCTID:195994002 {source="DOID:841"}
xref: SCTID:266399001 {source="DOID:841"}
xref: SCTID:37471005 {source="DOID:841", source="MONDO:equivalentTo"}
xref: UMLS:C0002390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1446"}
is_a: MONDO:0000771 {source="Orphanet:31740"} ! allergic respiratory disease
is_a: MONDO:0015925 {source="DOID:841", source="MESH:D000542"} ! interstitial lung disease
intersection_of: MONDO:0043905 ! pneumonitis
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity
relationship: disease_has_feature HP:0001824 ! Weight loss
relationship: disease_has_feature HP:0006530 ! Abnormal pulmonary interstitial morphology
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020028"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4323" xsd:anyURI

[Term]
id: MONDO:0017854
name: obsolete T-b+ severe combined immunodeficiency
is_obsolete: true

[Term]
id: MONDO:0017855
name: T-B- severe combined immunodeficiency
def: "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." [Orphanet:317419]
subset: disease_grouping
subset: gard_rare {source="GARD:21406", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:317419"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "T-B- SCID" EXACT [Orphanet:317419]
xref: GARD:21406 {source="MONDO:GARD"}
xref: ICD10CM:D81.1 {source="Orphanet:317419", source="Orphanet:317419/e", source="Orphanet:317419/specific"}
xref: MEDGEN:1842252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:317419 {source="MONDO:equivalentTo"}
xref: UMLS:C5679893 {source="MEDGEN:1842252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015974 {source="Orphanet:317419"} ! severe combined immunodeficiency

[Term]
id: MONDO:0017856
name: X-linked spasticity-intellectual disability-epilepsy syndrome
subset: gard_rare {source="GARD:16622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3175"}
subset: orphanet_rare {source="Orphanet:3175"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16622 {source="MONDO:GARD"}
xref: ICD10CM:G25.3 {source="Orphanet:3175/attributed", source="Orphanet:3175/ntbt", source="Orphanet:3175"}
xref: MEDGEN:1376165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3175 {source="MONDO:equivalentTo"}
xref: UMLS:C4510949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376165"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:3175", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:3175", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0017857
name: spina bifida-hypospadias syndrome
def: "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." [Orphanet:3176]
subset: gard_rare {source="GARD:4940", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3176"}
subset: ordo_malformation_syndrome {source="Orphanet:3176"}
subset: orphanet_rare {source="Orphanet:3176"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:4940 {source="MONDO:GARD"}
xref: ICD10CM:Q05.9 {source="Orphanet:3176/attributed", source="Orphanet:3176/ntbt", source="Orphanet:3176"}
xref: MEDGEN:1638294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3176 {source="MONDO:equivalentTo"}
xref: UMLS:C4706660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638294"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0017858
name: acute erythroid leukemia
def: "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" [NCIT:C8923]
subset: gard_rare {source="GARD:9620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:318"}
subset: orphanet_rare {source="Orphanet:318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute erythroblastic leukaemia" EXACT OMO:0003005 []
synonym: "acute erythroblastic leukemia" EXACT [NCIT:C8923]
synonym: "acute erythroid leukemia" EXACT [NCIT:C8923]
synonym: "acute erythroleukemia" RELATED [GARD:0009620]
synonym: "acute erythroleukemia M6a subtype" RELATED [GARD:0009620]
synonym: "acute erythroleukemia M6b subtype" RELATED [GARD:0009620]
synonym: "acute myeloid leukaemia FAB-M6" RELATED OMO:0003005 []
synonym: "acute myeloid leukaemia M6" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia FAB-M6" RELATED [GARD:0009620]
synonym: "acute myeloid leukemia M6" EXACT [Orphanet:318]
synonym: "AEL" EXACT ABBREVIATION [NCIT:C8923]
synonym: "AML M6" EXACT [Orphanet:318]
synonym: "AML-M6" RELATED [GARD:0009620]
synonym: "Di Guglielmo syndrome" RELATED [GARD:0009620]
synonym: "Di Guglielmo's syndrome" RELATED [GARD:0009750]
synonym: "erythroblastic leukaemia" EXACT OMO:0003005 []
synonym: "erythroblastic leukemia" EXACT [NCIT:C8923]
synonym: "Erythroleukemia" RELATED [Orphanet:318]
synonym: "FAB M6" EXACT [NCIT:C8923]
synonym: "leukemia, erythroid, malignant" EXACT [NCIT:C8923]
synonym: "M6 acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "M6 acute myeloid leukemia" EXACT [NCIT:C8923]
xref: DOID:0080780 {source="MONDO:equivalentTo"}
xref: EFO:0000218 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9620 {source="MONDO:GARD"}
xref: ICD10CM:C94.0 {source="Orphanet:318", source="Orphanet:318/ntbt"}
xref: icd11.foundation:631263622 {source="MONDO:equivalentTo", source="Orphanet:318", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:205.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:207.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9840/3 {source="NCIT:C8923"}
xref: MEDGEN:7316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004915 {source="MONDO:equivalentTo"}
xref: NANDO:2200010 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8923 {source="MONDO:equivalentTo"}
xref: Orphanet:318 {source="MONDO:equivalentTo"}
xref: SCTID:93451002 {source="MONDO:equivalentTo"}
xref: UMLS:C0023440 {source="MONDO:equivalentTo", source="MEDGEN:7316", source="MONDO:MEDGEN"}
is_a: MONDO:0015667 {source="NCIT:C8923", source="Orphanet:318"} ! acute myeloid leukemia by FAB classification
is_a: MONDO:0020703 {source="NCIT:C8923"} ! erythroid neoplasm
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia" xsd:anyURI {source="GARD:0009620"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9750/di-guglielmos-syndrome" xsd:anyURI {source="GARD:0009750"}

[Term]
id: MONDO:0017859
name: colchicine poisoning
def: "A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days." [Orphanet:31824]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:31824"}
subset: ordo_disorder {source="Orphanet:31824"}
subset: orphanet_rare {source="Orphanet:31824"}
subset: rare
xref: ICD10CM:T50.4 {source="Orphanet:31824", source="Orphanet:31824/ntbt"}
xref: ICD9:974.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:31824 {source="MONDO:equivalentTo"}
xref: SCTID:24354007 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:23359 ! colchicine

[Term]
id: MONDO:0017860
name: methanol poisoning
def: "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)." [Orphanet:31825]
subset: gard_rare {source="GARD:18804", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31825"}
subset: orphanet_rare {source="Orphanet:31825"}
subset: rare
xref: GARD:18804 {source="MONDO:GARD"}
xref: ICD10CM:T51.1 {source="Orphanet:31825", source="Orphanet:31825/e"}
xref: Orphanet:31825 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31825"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:17790 ! methanol
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0017861
name: ethylene glycol poisoning
def: "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure." [Orphanet:31826]
subset: gard_rare {source="GARD:18805", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31826"}
subset: orphanet_rare {source="Orphanet:31826"}
subset: rare
xref: GARD:18805 {source="MONDO:GARD"}
xref: ICD10CM:T52.8 {source="Orphanet:31826/ntbt", source="Orphanet:31826"}
xref: ICD9:982.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:31826 {source="MONDO:equivalentTo"}
xref: SCTID:426692001 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31826"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:30742 ! ethylene glycol
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0017862
name: paraquat poisoning
def: "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported." [Orphanet:31827]
subset: gard_rare {source="GARD:18806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:31827"}
subset: orphanet_rare {source="Orphanet:31827"}
subset: rare
xref: GARD:18806 {source="MONDO:GARD"}
xref: ICD10CM:T60.3 {source="Orphanet:31827", source="Orphanet:31827/ntbt"}
xref: Orphanet:31827 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:Redundant", source="Orphanet:31827"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:34905 ! paraquat
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0017863
name: digitalis poisoning
def: "Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances." [Orphanet:31828]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:31828"}
subset: ordo_disorder {source="Orphanet:31828"}
subset: orphanet_rare {source="Orphanet:31828"}
subset: rare
xref: ICD10CM:T46.0 {source="Orphanet:31828/ntbt", source="Orphanet:31828"}
xref: Orphanet:31828 {source="MONDO:equivalentTo"}
xref: SCTID:12876009 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:4551 ! digoxin
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0017864
name: congenital pulmonary veins atresia or stenosis
def: "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects." [Orphanet:3188]
subset: gard_rare {source="GARD:4598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:3188"}
subset: ordo_morphological_anomaly {source="Orphanet:3188"}
subset: rare
synonym: "pulmonary vein stenosis" RELATED [GARD:0004598]
synonym: "pulmonary veins stenosis" RELATED [GARD:0004598]
xref: GARD:4598 {source="MONDO:GARD"}
xref: ICD10CM:Q26.3 {source="Orphanet:3188", source="Orphanet:3188/e"}
xref: icd11.foundation:469101490 {source="Orphanet:3188", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1826176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200964 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200273 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:3188 {source="MONDO:equivalentTo"}
xref: SCTID:234062003 {source="MONDO:equivalentTo"}
xref: UMLS:C5680865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826176"}
is_a: MONDO:0020292 {source="Orphanet:3188"} ! congenital anomaly of the great arteries

[Term]
id: MONDO:0017865
name: congenital pulmonary valve stenosis
def: "Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS)." [Orphanet:3189]
subset: gard_rare {source="GARD:16623", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3189"}
subset: ordo_morphological_anomaly {source="Orphanet:3189"}
subset: orphanet_rare {source="Orphanet:3189"}
subset: rare
synonym: "heart valve pulmonary stenosis" RELATED [GARD:0004596]
synonym: "valvar pulmonary stenosis" RELATED [GARD:0004596]
synonym: "valvate pulmonary stenosis" RELATED [GARD:0004596]
synonym: "valvular pulmonary stenosis" RELATED [GARD:0004596]
xref: GARD:16623 {source="MONDO:GARD"}
xref: ICD10CM:Q22.1 {source="Orphanet:3189", source="MONDO:equivalentTo", source="Orphanet:3189/e"}
xref: icd11.foundation:353180069 {source="Orphanet:3189", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10037451 {source="Orphanet:3189", source="Orphanet:3189/e"}
xref: MEDGEN:511533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011666 {source="Orphanet:3189", source="MONDO:relatedTo", source="Orphanet:3189/e"}
xref: Orphanet:3189 {source="MONDO:equivalentTo"}
xref: UMLS:C0162164 {source="MEDGEN:511533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017866
name: subpulmonary stenosis
subset: gard_rare {source="GARD:5051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:3190"}
subset: rare
xref: GARD:5051 {source="MONDO:GARD"}
xref: ICD10CM:Q24.3 {source="Orphanet:3190", source="Orphanet:3190/e"}
xref: icd11.foundation:1393194578 {source="MONDO:equivalentTo", source="Orphanet:3190", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:757434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3190 {source="MONDO:equivalentTo"}
xref: SCTID:448476001 {source="MONDO:equivalentTo"}
xref: UMLS:C3165028 {source="MEDGEN:757434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017865 {source="Orphanet:3190"} ! congenital pulmonary valve stenosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis" xsd:anyURI {source="GARD:0005051"}

[Term]
id: MONDO:0017867
name: distal 17p13.1 microdeletion syndrome
def: "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." [Orphanet:319171]
subset: gard_rare {source="GARD:10996", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319171"}
subset: ordo_malformation_syndrome {source="Orphanet:319171"}
subset: orphanet_rare {source="Orphanet:319171"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal del(17)(p13.1)" EXACT [Orphanet:319171]
xref: GARD:10996 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:319171/attributed", source="Orphanet:319171/ntbt", source="Orphanet:319171"}
xref: MEDGEN:1657963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319171 {source="MONDO:equivalentTo"}
xref: UMLS:C4749349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657963"}
is_a: MONDO:0015159 {source="Orphanet:319171"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0022754 {source="Orphanet:319171"} ! chromosome 17p deletion
relationship: disease_arises_from_structure CHR:9606-chr17p13.1 {source="https://orcid.org/0000-0002-4142-7153"} ! 17p13.1 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:319171", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017868
name: diencephalic-mesencephalic junction dysplasia
def: "A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." [https://orcid.org/0000-0001-5208-3432, Orphanet:319192]
subset: gard_rare {source="GARD:21407", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319192"}
subset: ordo_morphological_anomaly {source="Orphanet:319192"}
subset: orphanet_rare {source="Orphanet:319192"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diencephalic-mesencephalic junction dysplasia syndrome" EXACT [MONDO:0033211]
xref: GARD:21407 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:319192", source="Orphanet:319192/attributed", source="Orphanet:319192/ntbt"}
xref: MEDGEN:1641855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:251280 {source="MONDO:equivalentTo"}
xref: Orphanet:319192 {source="MONDO:equivalentTo"}
xref: UMLS:C4707858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641855"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:319192", source="Orphanet:319192/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:251280"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6197" xsd:anyURI

[Term]
id: MONDO:0017869
name: chondroectodermal dysplasia with night blindness
def: "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." [Orphanet:319195]
subset: gard_rare {source="GARD:21408", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319195"}
subset: orphanet_rare {source="Orphanet:319195"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21408 {source="MONDO:GARD"}
xref: ICD10CM:Q77.6 {source="Orphanet:319195/attributed", source="Orphanet:319195/ntbt", source="Orphanet:319195"}
xref: MEDGEN:1641815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319195 {source="MONDO:equivalentTo"}
xref: UMLS:C4706300 {source="MEDGEN:1641815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="Orphanet:319195"} ! eye disorder
is_a: MONDO:0018230 {source="Orphanet:319195"} ! skeletal dysplasia
is_a: MONDO:0019287 {source="Orphanet:319195"} ! ectodermal dysplasia syndrome
relationship: disease_has_feature HP:0004349 {source="Orphanet:319195"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:319195", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare

[Term]
id: MONDO:0017870
name: supravalvular pulmonary stenosis
subset: gard_rare {source="GARD:4594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:3192"}
subset: rare
synonym: "pulmonary supravalvular stenosis" RELATED [GARD:0004594]
xref: GARD:4594 {source="MONDO:GARD"}
xref: ICD10CM:Q25.6 {source="Orphanet:3192", source="Orphanet:3192/e"}
xref: MEDGEN:481842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200278 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:3192 {source="MONDO:equivalentTo"}
xref: UMLS:C3280212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481842"}
is_a: MONDO:0017865 {source="Orphanet:3192"} ! congenital pulmonary valve stenosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4594/pulmonary-supravalvular-stenosis" xsd:anyURI {source="GARD:0004594"}

[Term]
id: MONDO:0017871
name: bilateral massive adrenal hemorrhage
subset: gard_rare {source="GARD:21409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:319205"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:319205"}
subset: rare
synonym: "bilateral adrenal haemorrhage" EXACT OMO:0003005 []
synonym: "bilateral adrenal hemorrhage" EXACT [Orphanet:319205]
synonym: "BMAH" EXACT ABBREVIATION [Orphanet:319205]
xref: GARD:21409 {source="MONDO:GARD"}
xref: ICD10CM:E27.4 {source="Orphanet:319205/ntbt", source="Orphanet:319205"}
xref: MEDGEN:1843030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319205 {source="MONDO:equivalentTo"}
xref: UMLS:C5679892 {source="MEDGEN:1843030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019801 {source="Orphanet:319205"} ! acute adrenal insufficiency

[Term]
id: MONDO:0017872
name: Lujo hemorrhagic fever
def: "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission." [Orphanet:319213]
subset: gard_rare {source="GARD:21410", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319213"}
subset: orphanet_rare {source="Orphanet:319213"}
subset: rare
synonym: "Zambian hemorrhagic fever" EXACT [Orphanet:319213]
xref: DOID:0050202 {source="MONDO:equivalentTo"}
xref: GARD:21410 {source="MONDO:GARD"}
xref: ICD10CM:A96.8 {source="Orphanet:319213", source="Orphanet:319213/ntbt"}
xref: MEDGEN:905662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319213 {source="MONDO:equivalentTo"}
xref: SCTID:716585008 {source="MONDO:equivalentTo"}
xref: UMLS:C4274433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905662"}
is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319213"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:649188 ! disease has primary infectious agent

[Term]
id: MONDO:0017873
name: obsolete Ebola hemorrhagic fever
is_obsolete: true
replaced_by: MONDO:0005737

[Term]
id: MONDO:0017874
name: Argentine hemorrhagic fever
def: "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations." [Orphanet:319223]
subset: gard_rare {source="GARD:21411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319223"}
subset: orphanet_rare {source="Orphanet:319223"}
subset: rare
synonym: "Argentinian hemorrhagic fever" EXACT [Orphanet:319223]
synonym: "Junin hemorrhagic fever" EXACT [Orphanet:319223]
xref: DOID:0050194 {source="MONDO:equivalentTo"}
xref: GARD:21411 {source="MONDO:GARD"}
xref: ICD10CM:A96.0 {source="Orphanet:319223/e", source="Orphanet:319223"}
xref: icd11.foundation:257166193 {source="MONDO:equivalentTo", source="Orphanet:319223", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:9211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319223 {source="MONDO:equivalentTo"}
xref: SCTID:58868000 {source="MONDO:equivalentTo"}
xref: UMLS:C0019097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9211"}
is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319223"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:2169991 ! disease has primary infectious agent Mammarenavirus juninense
relationship: disease_has_feature HP:0001882 {source="MONDO:Wikidata"} ! Leukopenia
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_infectious_agent NCBITaxon:2169991 ! Mammarenavirus juninense
relationship: transmitted_by NCBITaxon:56212 ! Calomys musculinus

[Term]
id: MONDO:0017875
name: Bolivian hemorrhagic fever
def: "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations." [Orphanet:319229]
subset: gard_rare {source="GARD:21412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319229"}
subset: orphanet_rare {source="Orphanet:319229"}
subset: rare
synonym: "Machupo hemorrhagic fever" EXACT [Orphanet:319229]
xref: DOID:0050195 {source="MONDO:equivalentTo"}
xref: GARD:21412 {source="MONDO:GARD"}
xref: ICD10CM:A96.1 {source="Orphanet:319229", source="Orphanet:319229/e"}
xref: icd11.foundation:1780467429 {source="Orphanet:319229", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10005932 {source="Orphanet:319229", source="Orphanet:319229/e"}
xref: MEDGEN:76386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319229 {source="MONDO:equivalentTo"}
xref: SCTID:67247008 {source="MONDO:equivalentTo"}
xref: UMLS:C0282192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76386"}
is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319229"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:11628 ! disease has primary infectious agent
relationship: disease_has_infectious_agent NCBITaxon:11628
relationship: transmitted_by NCBITaxon:56210 ! Calomys callosus

[Term]
id: MONDO:0017876
name: Venezuelan hemorrhagic fever
def: "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations." [Orphanet:319234]
subset: gard_rare {source="GARD:21413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319234"}
subset: orphanet_rare {source="Orphanet:319234"}
subset: rare
synonym: "Guanarito hemorrhagic fever" EXACT [Orphanet:319234]
xref: DOID:0050196 {source="MONDO:equivalentTo"}
xref: GARD:21413 {source="MONDO:GARD"}
xref: ICD10CM:A96.8 {source="Orphanet:319234/ntbt", source="Orphanet:319234"}
xref: icd11.foundation:356743940 {source="MONDO:equivalentTo", source="Orphanet:319234", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:508283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319234 {source="MONDO:equivalentTo"}
xref: SCTID:359673001 {source="MONDO:equivalentTo"}
xref: UMLS:C0042470 {source="MEDGEN:508283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319234"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:45219 ! disease has primary infectious agent
relationship: disease_has_infectious_agent NCBITaxon:45219
relationship: transmitted_by NCBITaxon:134742 ! Sigmodon alstoni
relationship: transmitted_by NCBITaxon:157541 ! Zygodontomys brevicauda

[Term]
id: MONDO:0017877
name: Brazilian hemorrhagic fever
def: "Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death." [Orphanet:319239]
subset: gard_rare {source="GARD:21414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319239"}
subset: orphanet_rare {source="Orphanet:319239"}
subset: rare
synonym: "Sabia hemorrhagic fever" EXACT [Orphanet:319239]
xref: DOID:0050197 {source="MONDO:equivalentTo"}
xref: GARD:21414 {source="MONDO:GARD"}
xref: ICD10CM:A96.8 {source="Orphanet:319239/ntbt", source="Orphanet:319239"}
xref: MEDGEN:575736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319239 {source="MONDO:equivalentTo"}
xref: SCTID:240524001 {source="MONDO:equivalentTo"}
xref: UMLS:C0343633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575736"}
is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319239"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:2169992 ! disease has primary infectious agent
relationship: disease_has_infectious_agent NCBITaxon:2169992

[Term]
id: MONDO:0017878
name: Chapare hemorrhagic fever
def: "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." [Orphanet:319244]
subset: gard_rare {source="GARD:21415", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319244"}
subset: orphanet_rare {source="Orphanet:319244"}
subset: rare
xref: DOID:0050198 {source="MONDO:equivalentTo"}
xref: GARD:21415 {source="MONDO:GARD"}
xref: ICD10CM:A96.8 {source="Orphanet:319244", source="Orphanet:319244/ntbt"}
xref: MEDGEN:900792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319244 {source="MONDO:equivalentTo"}
xref: SCTID:716584007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900792"}
is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319244"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:499556 ! disease has primary infectious agent
relationship: disease_has_infectious_agent NCBITaxon:499556

[Term]
id: MONDO:0017879
name: hantavirus pulmonary syndrome
def: "An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems." [NCIT:P378]
subset: gard_rare {source="GARD:69", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1216"}
subset: ordo_disorder {source="Orphanet:319247"}
subset: orphanet_rare {source="Orphanet:319247"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "four corners hantavirus" RELATED [GARD:0000069]
synonym: "Hantavirus" RELATED [GARD:0000069]
synonym: "Hantavirus-associated respiratory distress syndrome" RELATED [GARD:0000069]
synonym: "HARDS" RELATED ABBREVIATION [GARD:0000069]
xref: DOID:14472 {source="MONDO:equivalentTo", source="EFO:0007296"}
xref: EFO:0007296 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:69 {source="MONDO:GARD"}
xref: ICD10EXP:B33.4+ {source="Orphanet:319247/e", source="Orphanet:319247"}
xref: ICD10EXP:J17.1* {source="Orphanet:319247/e", source="Orphanet:319247"}
xref: icd11.foundation:582624609 {source="MONDO:equivalentTo", source="Orphanet:319247"}
xref: ICD9:480.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10019143 {source="Orphanet:319247/e", source="Orphanet:319247"}
xref: MEDGEN:66205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018804 {source="DOID:14472", source="MONDO:equivalentTo", source="EFO:0007296"}
xref: NCIT:C84747 {source="DOID:14472", source="MONDO:equivalentTo"}
xref: NORD:1216 {source="MONDO:NORD"}
xref: Orphanet:319247 {source="MONDO:equivalentTo"}
xref: SCTID:120639003 {source="DOID:14472", source="MONDO:equivalentTo"}
xref: UMLS:C0243025 {source="MEDGEN:66205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84747"} ! syndromic disease
is_a: MONDO:0005780 {source="MESH:D018804", source="MONDO:Redundant", source="NCIT:C84747"} ! hantavirus infectious disease
is_a: MONDO:0018087 {source="Orphanet:319247"} ! viral hemorrhagic fever
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002048 ! lung
intersection_of: MONDO:0100332 NCBITaxon:1980442 ! disease has primary infectious agent Orthohantavirus
relationship: disease_has_infectious_agent NCBITaxon:1980456 ! Orthohantavirus andesense
relationship: disease_has_infectious_agent NCBITaxon:1980459
relationship: disease_has_infectious_agent NCBITaxon:1980476
relationship: disease_has_infectious_agent NCBITaxon:1980491
relationship: transmitted_by NCBITaxon:137207 ! Oligoryzomys longicaudatus
relationship: transmitted_by NCBITaxon:37020 ! Oryzomys palustris
relationship: transmitted_by NCBITaxon:42415 ! Sigmodon hispidus
relationship: transmitted_by NCBITaxon:447135 ! Myodes glareolus
relationship: transmitted_by NCBITaxon:56211 ! Calomys laucha

[Term]
id: MONDO:0017880
name: Rift valley fever
def: "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms." [Orphanet:319251]
subset: gard_rare {source="GARD:21416", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319251"}
subset: orphanet_rare {source="Orphanet:319251"}
subset: rare
synonym: "RVF" EXACT ABBREVIATION [NCIT:C128419]
xref: DOID:1328 {source="MONDO:equivalentTo"}
xref: GARD:21416 {source="MONDO:GARD"}
xref: ICD10CM:A92.4 {source="Orphanet:319251", source="MONDO:equivalentTo", source="DOID:1328", source="Orphanet:319251/e"}
xref: icd11.foundation:854137188 {source="Orphanet:319251", source="MONDO:equivalentTo"}
xref: MedDRA:10039143 {source="Orphanet:319251", source="Orphanet:319251/e"}
xref: MEDGEN:20589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012295 {source="MONDO:equivalentTo", source="DOID:1328"}
xref: NCIT:C128419 {source="MONDO:equivalentTo"}
xref: Orphanet:319251 {source="MONDO:equivalentTo"}
xref: SCTID:402917003 {source="MONDO:equivalentTo", source="DOID:1328"}
xref: SCTID:7077006 {source="DOID:1328"}
xref: UMLS:C0035613 {source="MEDGEN:20589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018087 {source="MESH:D012295", source="MONDO:Redundant", source="NCIT:C128419", source="Orphanet:319251"} ! viral hemorrhagic fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: disease_has_infectious_agent NCBITaxon:11588 ! Rift Valley fever virus
relationship: disease_has_infectious_agent NCBITaxon:11588 ! Rift Valley fever virus

[Term]
id: MONDO:0017881
name: Kyasanur forest disease
def: "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations." [Orphanet:319254]
subset: gard_rare {source="GARD:8257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319254"}
subset: orphanet_rare {source="Orphanet:319254"}
subset: rare
synonym: "KFD" RELATED ABBREVIATION [GARD:0008257]
synonym: "KFD virus" RELATED [GARD:0008257]
synonym: "Kyasanur forest disease virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Kyasanur forest disease virus disease or disorder" EXACT []
synonym: "Kyasanur forest disease virus infectious disease" EXACT []
synonym: "Kyasanur hemorrhagic fever" EXACT [Orphanet:319254]
synonym: "monkey disease" RELATED [Orphanet:319254]
synonym: "monkey fever" RELATED [Orphanet:319254]
xref: DOID:11320 {source="MONDO:equivalentTo"}
xref: GARD:8257 {source="MONDO:GARD"}
xref: ICD10CM:A98.2 {source="MONDO:equivalentTo", source="Orphanet:319254", source="DOID:11320", source="Orphanet:319254/e"}
xref: icd11.foundation:1288604967 {source="MONDO:equivalentTo", source="Orphanet:319254"}
xref: ICD9:065.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11320"}
xref: MedDRA:10023505 {source="Orphanet:319254", source="Orphanet:319254/e"}
xref: MEDGEN:5982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007733 {source="MONDO:equivalentTo", source="DOID:11320"}
xref: Orphanet:319254 {source="MONDO:equivalentTo"}
xref: SCTID:23097003 {source="MONDO:equivalentTo", source="DOID:11320"}
xref: UMLS:C0022810 {source="MEDGEN:5982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018087 {source="MESH:D007733", source="Orphanet:319254"} ! viral hemorrhagic fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:33743 ! disease has primary infectious agent Kyasanur Forest disease virus
relationship: disease_has_infectious_agent NCBITaxon:33743 ! Kyasanur Forest disease virus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease" xsd:anyURI {source="GARD:0008257"}

[Term]
id: MONDO:0017882
name: Omsk hemorrhagic fever
def: "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis." [Orphanet:319266]
subset: gard_rare {source="GARD:8254", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319266"}
subset: orphanet_rare {source="Orphanet:319266"}
subset: rare
xref: DOID:992 {source="MONDO:equivalentTo"}
xref: GARD:8254 {source="MONDO:GARD"}
xref: ICD10CM:A98.1 {source="MONDO:equivalentTo", source="Orphanet:319266", source="DOID:992", source="Orphanet:319266/e"}
xref: icd11.foundation:946068954 {source="MONDO:equivalentTo", source="Orphanet:319266", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:065.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:992"}
xref: MedDRA:10030310 {source="Orphanet:319266", source="Orphanet:319266/e"}
xref: MEDGEN:9212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006481 {source="MONDO:equivalentTo", source="DOID:992"}
xref: Orphanet:319266 {source="MONDO:equivalentTo"}
xref: SCTID:48113006 {source="MONDO:equivalentTo", source="DOID:992"}
xref: UMLS:C0019103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9212"}
is_a: MONDO:0018087 {source="MESH:D006481", source="MONDO:Redundant", source="Orphanet:319266"} ! viral hemorrhagic fever
intersection_of: MONDO:0018087 ! viral hemorrhagic fever
intersection_of: MONDO:0100332 NCBITaxon:12542 ! disease has primary infectious agent Omsk hemorrhagic fever virus
relationship: disease_has_infectious_agent NCBITaxon:12542 {source="MONDO:Wikidata"} ! Omsk hemorrhagic fever virus
relationship: transmitted_by NCBITaxon:34619 ! Dermacentor
relationship: transmitted_by NCBITaxon:6944 ! Ixodes
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever" xsd:anyURI {source="GARD:0008254"}

[Term]
id: MONDO:0017883
name: obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential
is_obsolete: true
replaced_by: MONDO:0003010

[Term]
id: MONDO:0017884
name: papillary renal cell carcinoma
def: "A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma." [Orphanet:319298]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319298"}
subset: orphanet_rare {source="Orphanet:319298"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromophil carcinoma of kidney" EXACT [DOID:4465, NCIT:C6975]
synonym: "chromophil carcinoma of the kidney" EXACT [NCIT:C6975]
synonym: "chromophil RCC" RELATED [GARD:0009575]
synonym: "chromophil renal cell carcinoma" EXACT [NCIT:C6975]
synonym: "HPRCC" EXACT ABBREVIATION [Orphanet:47044]
synonym: "papillary (chromophil) renal cell carcinoma" EXACT [NCIT:C6975]
synonym: "papillary kidney carcinoma" EXACT [DOID:4465]
synonym: "papillary renal carcinoma, malignant - (subtype)" RELATED [GARD:0009572]
synonym: "papillary renal cell adenocarcinoma" EXACT [Orphanet:319298]
synonym: "papillary renal cell cancer" EXACT [NCIT:C6975]
synonym: "papillary renal cell carcinoma" EXACT CLINGEN_LABEL [DOID:4465, NCIT:C6975]
synonym: "papillary renal cell carcinoma, bilateral - (subtype)" RELATED [GARD:0009572]
synonym: "papillary renal cell carcinoma, familial - (subtype)" RELATED [GARD:0009572]
synonym: "papillary renal cell carcinoma, multiple - (subtype)" RELATED [GARD:0009572]
synonym: "papillary renal cell carcinoma, sporadic - (subtype)" RELATED [GARD:0009572]
synonym: "RCCP" RELATED ABBREVIATION [GARD:0009572]
synonym: "RCCP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605074]
synonym: "renal adenocarcinoma" RELATED [GARD:0009572]
synonym: "renal cell carcinoma, papillary, 1" RELATED [MONDO:Lexical, OMIM:605074]
synonym: "renal cell carcinoma, papillary, type 1" EXACT [MONDORULE:1, OMIM:605074]
synonym: "sporadic papillary renal cell carcinoma" EXACT [DOID:4465]
xref: DOID:4465 {source="EFO:0000640", source="MONDO:equivalentTo"}
xref: EFO:0000640 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9572 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:47044", source="Orphanet:319298", source="Orphanet:319298/ntbt", source="Orphanet:47044/attributed", source="Orphanet:47044/ntbt"}
xref: MEDGEN:266300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538614 {source="DOID:4465", source="Orphanet:47044", source="Orphanet:47044/e"}
xref: MESH:D002292 {source="DOID:4465"}
xref: NCIT:C27890 {source="DOID:4465"}
xref: NCIT:C6975 {source="DOID:4465", source="EFO:0000640", source="MONDO:equivalentTo"}
xref: ONCOTREE:PRCC {source="MONDO:equivalentTo"}
xref: Orphanet:319298 {source="MONDO:equivalentTo"}
xref: Orphanet:47044 {source="OMIM:605074"}
xref: SCTID:4797003 {source="DOID:4465"}
xref: SCTID:733608000 {source="MONDO:equivalentTo"}
xref: UMLS:C1306837 {source="MONDO:equivalentTo", source="MEDGEN:266300", source="MONDO:MEDGEN"}
is_a: MONDO:0002512 {source="NCIT:C6975"} ! papillary adenocarcinoma
is_a: MONDO:0005086 {source="DC-OMIM:605074", source="DOID:4465", source="EFO:0000640", source="MONDO:0017884/inferred", source="MONDO:Redundant", source="ONCOTREE:PRCC/inferred", source="Orphanet:319298"} ! renal cell carcinoma
is_a: MONDO:0005549 {source="MONDO:Redundant", source="NCIT:C6975"} ! renal cell adenocarcinoma
relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney
relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:47044", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited renal cancer-predisposing syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma" xsd:anyURI {source="GARD:0009572"}

[Term]
id: MONDO:0017885
name: chromophobe renal cell carcinoma
def: "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described." [Orphanet:319303]
subset: gard_rare {source="GARD:6064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319303"}
subset: orphanet_rare {source="Orphanet:319303"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHRCC" RELATED ABBREVIATION [ONCOTREE:CHRCC]
synonym: "ChRCC" RELATED [GARD:0006064]
synonym: "chromophobe adenocarcinoma" EXACT [DOID:4471, NCIT:C4146]
synonym: "chromophobe carcinoma" EXACT [NCIT:C4146]
synonym: "chromophobe carcinoma of kidney" EXACT [DOID:4471, NCIT:C4146]
synonym: "chromophobe carcinoma of the kidney" EXACT [NCIT:C4146]
synonym: "chromophobe cell carcinoma of kidney" EXACT [NCIT:C4146]
synonym: "chromophobe cell carcinoma of the kidney" EXACT [NCIT:C4146]
synonym: "chromophobe renal cell adenocarcinoma" EXACT [Orphanet:319303]
synonym: "chromophobe renal cell cancer" EXACT [NCIT:C4146]
synonym: "chromophobe renal cell carcinoma" EXACT [NCIT:C4146]
synonym: "CRCC" RELATED ABBREVIATION [GARD:0006064]
synonym: "kidney chromophobe" EXACT [DOID:4471]
synonym: "renal cell carcinoma, chromophobe cell" EXACT [DOID:4471]
synonym: "renal cell carcinoma, chromophobe type" EXACT [NCIT:C4146]
xref: DOID:4471 {source="MONDO:equivalentTo", source="EFO:0000335"}
xref: EFO:0000335 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6064 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:319303/ntbt", source="Orphanet:319303"}
xref: ICDO:8270/3 {source="NCIT:C4146"}
xref: ICDO:8317/3 {source="NCIT:C4146"}
xref: MEDGEN:266091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002292 {source="DOID:4471"}
xref: NCIT:C4146 {source="MONDO:equivalentTo", source="EFO:0000335", source="MONDO:exact-label-match", source="DOID:4471"}
xref: ONCOTREE:CHRCC {source="MONDO:equivalentTo"}
xref: Orphanet:319303 {source="MONDO:equivalentTo"}
xref: SCTID:128667008 {source="DOID:4471"}
xref: SCTID:1443001 {source="EFO:0000335"}
xref: SCTID:733471003 {source="MONDO:equivalentTo"}
xref: UMLS:C1266042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266091"}
is_a: MONDO:0005086 {source="DOID:4471", source="EFO:0000335", source="MONDO:0017885/inferred", source="MONDO:Redundant", source="ONCOTREE:CHRCC/inferred", source="Orphanet:319303"} ! renal cell carcinoma
is_a: MONDO:0005549 {source="NCIT:C4146"} ! renal cell adenocarcinoma
relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma" xsd:anyURI {source="GARD:0006064"}

[Term]
id: MONDO:0017886
name: MIT family translocation renal cell carcinoma
def: "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever." [Orphanet:319308]
subset: gard_rare {source="GARD:17446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319308"}
subset: orphanet_rare {source="Orphanet:319308"}
subset: rare
synonym: "carcinoma associated with MITF/TFE translocation" EXACT [Orphanet:319308]
synonym: "translocation renal cell carcinoma" EXACT [Orphanet:319308]
xref: DOID:0081413 {source="MONDO:equivalentTo"}
xref: GARD:17446 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:319308/ntbt", source="Orphanet:319308"}
xref: MEDGEN:1376834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319308 {source="MONDO:equivalentTo"}
xref: SCTID:764694005 {source="MONDO:equivalentTo"}
xref: UMLS:C4518356 {source="MEDGEN:1376834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005086 {source="Orphanet:319308"} ! renal cell carcinoma

[Term]
id: MONDO:0017887
name: renal cell carcinoma associated with neuroblastoma
def: "Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_histopathological_subtype {source="Orphanet:319314"}
subset: rare
synonym: "renal cell cancer associated with neuroblastoma" EXACT [NCIT:C100051]
synonym: "renal cell carcinoma after neuroblastoma" EXACT [Orphanet:319314]
synonym: "renal cell carcinoma associated with neuroblastoma" EXACT [NCIT:C100051]
xref: ICD10CM:C64 {source="Orphanet:319314/ntbt", source="Orphanet:319314"}
xref: MEDGEN:473928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C100051 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:319314 {source="MONDO:equivalentObsolete"}
xref: UMLS:C3272295 {source="MEDGEN:473928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005086 {source="MONDO:0017887/inferred", source="MONDO:Redundant", source="Orphanet:319314"} ! renal cell carcinoma
is_a: MONDO:0005549 {source="NCIT:C100051"} ! renal cell adenocarcinoma

[Term]
id: MONDO:0017889
name: obsolete mucinous tubular and spindle cell renal carcinoma
is_obsolete: true
replaced_by: MONDO:0003011

[Term]
id: MONDO:0017890
name: tubulocystic renal cell carcinoma
def: "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." [Orphanet:319325]
subset: gard_rare {source="GARD:21419", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319325"}
subset: orphanet_rare {source="Orphanet:319325"}
subset: rare
synonym: "Tubulocystic renal cell cancer" EXACT [NCIT:C126303]
xref: GARD:21419 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:319325/ntbt", source="Orphanet:319325"}
xref: MEDGEN:925623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126303 {source="MONDO:equivalentTo"}
xref: Orphanet:319325 {source="MONDO:equivalentTo"}
xref: SCTID:733603009 {source="MONDO:equivalentTo"}
xref: UMLS:C4288091 {source="MEDGEN:925623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005086 {source="MONDO:0017890/inferred", source="MONDO:Redundant", source="Orphanet:319325"} ! renal cell carcinoma
is_a: MONDO:0005549 {source="NCIT:C126303"} ! renal cell adenocarcinoma

[Term]
id: MONDO:0017891
name: obsolete inherited renal cancer-predisposing syndrome
subset: ordo_group_of_disorders {source="Orphanet:319328"}
xref: GARD:21420 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:319328 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017892
name: autosomal recessive myogenic arthrogryposis multiplex congenita
def: "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." [Orphanet:319332]
subset: gard_rare {source="GARD:17447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319332"}
subset: orphanet_rare {source="Orphanet:319332"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive myogenic AMC" EXACT [Orphanet:319332]
synonym: "SYNE1-related AMC" EXACT [Orphanet:319332]
synonym: "SYNE1-related arthrogryposis multiplex congenita" EXACT [Orphanet:319332]
xref: GARD:17447 {source="MONDO:GARD"}
xref: ICD10CM:Q74.3 {source="Orphanet:319332", source="Orphanet:319332/attributed", source="Orphanet:319332/ntbt"}
xref: MEDGEN:1647450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319332 {source="MONDO:equivalentTo"}
xref: SCTID:764812008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707155 {source="MEDGEN:1647450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015168 {source="Orphanet:319332"} ! arthrogryposis multiplex congenita
is_a: MONDO:0019950 {source="Orphanet:319332"} ! congenital muscular dystrophy

[Term]
id: MONDO:0017893
name: inherited acute myeloid leukemia
def: "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:17450", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319465"}
subset: orphanet_rare {source="Orphanet:319465"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial AML" EXACT [Orphanet:319465]
synonym: "hereditary acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "hereditary acute myeloid leukemia" EXACT [MONDO:patterns/hereditary]
synonym: "inherited AML" EXACT [Orphanet:319465]
synonym: "Pure familial acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "Pure familial acute myeloid leukemia" EXACT [Orphanet:319465]
synonym: "Pure familial AML" EXACT [Orphanet:319465]
xref: GARD:17450 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:319465/attributed", source="Orphanet:319465/ntbt", source="Orphanet:319465"}
xref: MEDGEN:1634915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319465 {source="MONDO:equivalentTo"}
xref: SCTID:764940002 {source="MONDO:equivalentTo"}
xref: UMLS:C4707228 {source="MEDGEN:1634915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MONDO:Entailed", source="Orphanet:319465", source="Orphanet:319465/inferred"} ! neoplasm
intersection_of: MONDO:0018874 ! acute myeloid leukemia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0011118 {source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019041"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0017894
name: acute myeloid leukemia with CEBPA somatic mutations
def: "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." [Orphanet:319480]
subset: gard_rare {source="GARD:17451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319480"}
subset: orphanet_rare {source="Orphanet:319480"}
subset: rare
synonym: "acute myeloid Leukaemia with mutated CEBPA" EXACT OMO:0003005 []
synonym: "acute myeloid Leukaemia with non-germline mutated CEBPA" EXACT OMO:0003005 []
synonym: "acute myeloid Leukemia with mutated CEBPA" EXACT [NCIT:C82433]
synonym: "acute myeloid Leukemia with non-germline mutated CEBPA" EXACT [NCIT:C82433]
synonym: "AML with CEBPA somatic mutations" EXACT [Orphanet:319480]
synonym: "AML with mutated CEBPA" EXACT [NCIT:C82433]
synonym: "non-familial acute myeloid leukaemia with mutated CEBPA" EXACT OMO:0003005 []
synonym: "non-familial acute myeloid leukemia with mutated CEBPA" EXACT [NCIT:C82433]
xref: DOID:0081095 {source="MONDO:equivalentTo"}
xref: GARD:17451 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:319480", source="Orphanet:319480/attributed", source="Orphanet:319480/ntbt"}
xref: MEDGEN:1640289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C82433 {source="MONDO:equivalentTo"}
xref: Orphanet:319480 {source="MONDO:equivalentTo"}
xref: SCTID:764855007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640289"}
is_a: MONDO:0018874 {source="NCIT:C82430", source="NCIT:C82433/inferred"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0017895
name: familial papillary or follicular thyroid carcinoma
def: "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." [NCIT:C118829]
subset: gard_rare {source="GARD:8488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319487"}
subset: orphanet_rare {source="Orphanet:319487"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial nonmedullary thyroid gland carcinoma" EXACT [NCIT:C118829]
synonym: "familial pure nonmedullary thyroid carcinoma" EXACT [Orphanet:319487]
synonym: "FNMTC" EXACT ABBREVIATION [NCIT:C118829, Orphanet:319487]
xref: GARD:8488 {source="MONDO:GARD"}
xref: ICD10CM:C73 {source="Orphanet:319487/attributed", source="Orphanet:319487/ntbt", source="Orphanet:319487"}
xref: MEDGEN:1681657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118829 {source="MONDO:equivalentTo"}
xref: Orphanet:319487 {source="MONDO:equivalentTo"}
xref: UMLS:C5191836 {source="MEDGEN:1681657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015447 {source="NCIT:C118829"} ! differentiated thyroid carcinoma
is_a: MONDO:0017896 {source="Orphanet:319487"} ! familial nonmedullary thyroid carcinoma

[Term]
id: MONDO:0017896
name: familial nonmedullary thyroid carcinoma
def: "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." [Orphanet:319494]
comment: Note the OMIM phenotypic series lacks a member classified by ORDO
subset: disease_grouping
subset: gard_rare {source="GARD:21421", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:319494"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thyroid cancer, nonmedullary" EXACT [MONDO:0000201]
xref: GARD:21421 {source="MONDO:GARD"}
xref: ICD10CM:C73 {source="Orphanet:319494", source="Orphanet:319494/attributed", source="Orphanet:319494/ntbt"}
xref: MEDGEN:502247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:188550 {source="MONDO:equivalentTo"}
xref: Orphanet:319494 {source="MONDO:equivalentTo"}
xref: UMLS:C3501843 {source="MEDGEN:502247", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002108 ! thyroid cancer
is_a: MONDO:0005070 {source="MONDO:Entailed", source="Orphanet:319494", source="Orphanet:319494/inferred"} ! neoplasm
is_a: MONDO:0015075 {source="Orphanet:319494"} ! thyroid gland carcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019041"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:188550"} ! inherited

[Term]
id: MONDO:0017897
name: obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
def: "OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." [Orphanet:319535]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility'
subset: ordo_group_of_disorders {source="Orphanet:319535"}
synonym: "autosomal recessive MSMD due to a complete deficiency" EXACT [Orphanet:319535]
synonym: "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:21422 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D84.8 {source="Orphanet:319535/attributed", source="Orphanet:319535/ntbt", source="Orphanet:319535"}
xref: Orphanet:319535 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0020573

[Term]
id: MONDO:0017898
name: obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
def: "OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." [MONDO:patterns/autosomal_recessive]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility'
subset: ordo_group_of_disorders {source="Orphanet:319539"}
synonym: "autosomal recessive MSMD due to a partial deficiency" EXACT [Orphanet:319539]
synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:21423 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D84.8 {source="Orphanet:319539/attributed", source="Orphanet:319539/ntbt", source="Orphanet:319539"}
xref: Orphanet:319539 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0020573

[Term]
id: MONDO:0017899
name: obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
def: "OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." [Orphanet:319543]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility'
subset: ordo_group_of_disorders {source="Orphanet:319543"}
synonym: "autosomal dominant MSMD due to a partial deficiency" EXACT [Orphanet:319543]
synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:21424 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D84.8 {source="Orphanet:319543", source="Orphanet:319543/attributed", source="Orphanet:319543/ntbt"}
xref: Orphanet:319543 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0020573

[Term]
id: MONDO:0017900
name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
def: "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:319547]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319547"}
subset: orphanet_rare {source="Orphanet:319547"}
subset: predisposition
subset: rare
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2" EXACT []
synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547]
synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT [Orphanet:319547]
synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT [Orphanet:319547]
xref: ICD10CM:D84.8 {source="Orphanet:319547/attributed", source="Orphanet:319547/ntbt", source="Orphanet:319547"}
xref: MEDGEN:928740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319547 {source="MONDO:equivalentTo"}
xref: UMLS:C4303071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928740"}
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
relationship: excluded_subClassOf MONDO:0013953 {source="Orphanet:319547/ntbt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency 28

[Term]
id: MONDO:0017901
name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319569]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319569"}
subset: orphanet_rare {source="Orphanet:319569"}
subset: predisposition
subset: rare
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT []
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319569]
synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319569]
synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319569]
synonym: "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
xref: ICD10CM:D84.8 {source="Orphanet:319569/attributed", source="Orphanet:319569/ntbt", source="Orphanet:319569"}
xref: MEDGEN:1379275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319569 {source="MONDO:equivalentTo"}
xref: UMLS:C4511091 {source="MEDGEN:1379275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:209950", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0008856 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency 27A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5439 {source="Orphanet:319569"} ! IFNGR1
relationship: predisposes_towards MONDO:0020590 {source="OMIM:209950"} ! mycobacterial infectious disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0017902
name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
def: "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319574]
subset: ordo_disorder {source="Orphanet:319574"}
subset: orphanet_rare {source="Orphanet:319574"}
subset: predisposition
subset: rare
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" EXACT []
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319574]
synonym: "autosomal recessive MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319574]
synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319574]
synonym: "IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
xref: ICD10CM:D84.8 {source="Orphanet:319574", source="Orphanet:319574/attributed", source="Orphanet:319574/ntbt"}
xref: MEDGEN:1387677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319574 {source="MONDO:equivalentTo"}
xref: UMLS:C4511098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387677"}
is_a: MONDO:0020573 {source="OMIM:614889", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0013953 {source="Orphanet:319547/ntbt", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency 28
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 {source="Orphanet:319574"} ! IFNGR2
relationship: predisposes_towards MONDO:0020590 {source="OMIM:614889"} ! mycobacterial infectious disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0017903
name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
def: "A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." [https://orcid.org/0000-0001-5208-3432, Orphanet:319589]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319589"}
subset: orphanet_rare {source="Orphanet:319589"}
subset: predisposition
subset: rare
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" EXACT []
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319589]
synonym: "autosomal dominant MSMD due to partial IFNgammaR2 deficiency" EXACT [Orphanet:319589]
synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency" EXACT [Orphanet:319589]
synonym: "IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
xref: ICD10CM:D84.8 {source="Orphanet:319589/attributed", source="Orphanet:319589/ntbt", source="Orphanet:319589"}
xref: MEDGEN:1371829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319589 {source="MONDO:equivalentTo"}
xref: UMLS:C4510875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1371829"}
is_a: MONDO:0019146 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited susceptibility to mycobacterial diseases
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 {source="Orphanet:319589"} ! IFNGR2

[Term]
id: MONDO:0017904
name: steroid dehydrogenase deficiency-dental anomalies syndrome
def: "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease." [Orphanet:3196]
subset: gard_rare {source="GARD:5015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3196"}
subset: orphanet_rare {source="Orphanet:3196"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lyngstadaas syndrome" EXACT [Orphanet:3196]
synonym: "severe dental aberrations in familial steroid dehydrogenase deficiency" RELATED [GARD:0005015]
synonym: "steroid dehydrogenase deficiency dental anomalies" RELATED [GARD:0005015]
xref: GARD:5015 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:3196/attributed", source="Orphanet:3196/ntbt", source="Orphanet:3196"}
xref: MEDGEN:419431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537490 {source="MONDO:equivalentTo"}
xref: Orphanet:3196 {source="MONDO:equivalentTo"}
xref: SCTID:723583009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419431"}
is_a: MONDO:0005066 {source="Orphanet:3196"} ! metabolic disease
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3196", source="Orphanet:3196/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115", source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0017905
name: X-linked Mendelian susceptibility to mycobacterial diseases
def: "A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males." [https://orcid.org/0000-0001-5208-3432, Orphanet:319605]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319605"}
subset: orphanet_rare {source="Orphanet:319605"}
subset: predisposition
subset: rare
synonym: "mendelian susceptibility to mycobacterial diseases, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked MSMD" EXACT [Orphanet:319605]
xref: ICD10CM:D84.8 {source="Orphanet:319605/attributed", source="Orphanet:319605/ntbt", source="Orphanet:319605"}
xref: MEDGEN:930082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319605 {source="MONDO:equivalentTo"}
xref: SCTID:719814009 {source="MONDO:equivalentTo"}
xref: UMLS:C4304413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930082"}
is_a: MONDO:0019146 {source="MONDO:Redundant", source="Orphanet:319605"} ! inherited susceptibility to mycobacterial diseases
intersection_of: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance

[Term]
id: MONDO:0017906
name: amyloidosis cutis dyschromia
def: "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." [Orphanet:319635]
subset: gard_rare {source="GARD:17466", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319635"}
subset: orphanet_rare {source="Orphanet:319635"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis cutis dyschromica" EXACT [Orphanet:319635]
xref: DOID:0080932 {source="MONDO:equivalentTo"}
xref: GARD:17466 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:319635/ntbt", source="Orphanet:319635"}
xref: ICD10EXP:L99.0* {source="Orphanet:319635/ntbt", source="Orphanet:319635"}
xref: MEDGEN:1641859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319635 {source="MONDO:equivalentTo"}
xref: UMLS:C4554601 {source="MEDGEN:1641859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015301 {source="Orphanet:319635"} ! primary cutaneous amyloidosis

[Term]
id: MONDO:0017907
name: primary lymphoma of the conjunctiva
def: "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare." [Orphanet:319667]
subset: gard_rare {source="GARD:21426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:319667"}
subset: orphanet_rare {source="Orphanet:319667"}
subset: rare
synonym: "conjunctiva lymphoma" EXACT [MONDO:patterns/location]
synonym: "conjunctiva primary organ-specific lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymphoma of conjunctiva" EXACT []
synonym: "primary lymphoid conjunctival tumor" EXACT [Orphanet:319667]
synonym: "primary lymphoid conjunctival tumour" EXACT OMO:0003005 []
synonym: "primary organ-specific lymphoma of conjunctiva" EXACT [MONDO:design_pattern]
xref: GARD:21426 {source="MONDO:GARD"}
xref: MEDGEN:1635420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319667 {source="MONDO:equivalentTo"}
xref: SCTID:763477007 {source="MONDO:equivalentTo"}
xref: UMLS:C4706485 {source="MEDGEN:1635420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017207 {source="MONDO:Redundant", source="Orphanet:319667"} ! primary organ-specific lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0017908
name: obsolete hyperekplexia
is_obsolete: true
replaced_by: MONDO:0017658

[Term]
id: MONDO:0017909
name: inherited glutathione synthetase deficiency
def: "Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." [Orphanet:32]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:32"}
subset: orphanet_rare {source="Orphanet:32"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "5-oxoprolinuria" EXACT [NCIT:C128193]
synonym: "glutathione synthetase deficiency" EXACT [NCIT:C128193]
synonym: "GSSD" EXACT ABBREVIATION [NCIT:C128193]
synonym: "inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glutathione synthase activity disorder" EXACT []
synonym: "inherited glutathione synthetase deficiency" EXACT CLINGEN_LABEL []
synonym: "oxoprolinase deficiency" RELATED [GARD:0010047]
synonym: "pyroglutamic aciduria" EXACT [NCIT:C128193]
synonym: "pyroglutamicaciduria" EXACT [Orphanet:32]
synonym: "rare inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0080699 {source="MONDO:equivalentTo"}
xref: GARD:10047 {source="MONDO:GARD"}
xref: ICD10CM:D55.1 {source="Orphanet:32", source="Orphanet:32/attributed", source="Orphanet:32/ntbt"}
xref: MESH:C536835 {source="Orphanet:32", source="MONDO:equivalentTo", source="Orphanet:32/e"}
xref: NCIT:C128193 {source="MONDO:equivalentTo"}
xref: Orphanet:32 {source="MONDO:equivalentTo"}
xref: SCTID:234589002 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="MESH:C536835/inferred", source="MONDO:Redundant", source="NCIT:C128193", source="Orphanet:32/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019241 {source="Orphanet:32"} ! inborn disorder of the gamma-glutamyl cycle
is_a: MONDO:0024626 ! defective phagocytic cell engulfment
is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0004363 ! glutathione synthase activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0017910
name: dehydrated hereditary stomatocytosis
def: "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed." [Orphanet:3202]
subset: gard_rare {source="GARD:5623", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3202"}
subset: orphanet_rare {source="Orphanet:3202"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Desiccytosis hereditary" RELATED [GARD:0005623]
synonym: "hereditary xerocytosis" EXACT [GARD:0005623, Orphanet:3202]
synonym: "xerocytosis hereditary" RELATED [GARD:0005623]
xref: DOID:0111575 {source="MONDO:equivalentTo"}
xref: GARD:5623 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:3202", source="Orphanet:3202/attributed", source="Orphanet:3202/ntbt"}
xref: MEDGEN:124415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200633 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:3202 {source="GARD:0005623", source="MONDO:equivalentTo"}
xref: SCTID:715526002 {source="MONDO:equivalentTo"}
xref: UMLS:C0272051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124415"}
is_a: MONDO:0020102 {source="Orphanet:3202"} ! hereditary stomatocytosis

[Term]
id: MONDO:0017911
name: obsolete cleft lip/palate-ectodermal dysplasia syndrome
is_obsolete: true
replaced_by: MONDO:0009151

[Term]
id: MONDO:0017912
name: obsolete X-linked pure spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320332"}
xref: GARD:21428 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.4 {source="Orphanet:320332", source="Orphanet:320332/attributed", source="Orphanet:320332/ntbt"}
xref: Orphanet:320332 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017913
name: pure or complex hereditary spastic paraplegia
subset: disease_grouping
subset: gard_rare {source="GARD:21429", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:320335"}
subset: rare
synonym: "Pure or complex familial spastic paraplegia" EXACT [Orphanet:320335]
synonym: "Pure or complicated familial spastic paraplegia" EXACT [Orphanet:320335]
synonym: "Pure or complicated hereditary spastic paraplegia" EXACT [Orphanet:320335]
xref: GARD:21429 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320335", source="Orphanet:320335/attributed", source="Orphanet:320335/ntbt"}
xref: MEDGEN:1843255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:320335 {source="MONDO:equivalentTo"}
xref: UMLS:C5679885 {source="MEDGEN:1843255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="Orphanet:320335"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0017914
name: obsolete pure or complex autosomal dominant spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320342"}
synonym: "Pure or complicated autosomal dominant spastic paraplegia" EXACT [Orphanet:320342]
xref: GARD:21430 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.4 {source="Orphanet:320342/attributed", source="Orphanet:320342/ntbt", source="Orphanet:320342"}
xref: Orphanet:320342 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017915
name: obsolete pure or complex autosomal recessive spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320346"}
subset: otar {source="MONDO:OTAR"}
synonym: "Pure or complicated autosomal recessive spastic paraplegia" EXACT [Orphanet:320346]
xref: GARD:21431 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.4 {source="Orphanet:320346", source="Orphanet:320346/attributed", source="Orphanet:320346/ntbt"}
xref: Orphanet:320346 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017916
name: obsolete pure or complex X-linked spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:320350"}
synonym: "Pure or complicated X-linked spastic paraplegia" EXACT [Orphanet:320350]
xref: GARD:21432 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.4 {source="Orphanet:320350/attributed", source="Orphanet:320350/ntbt", source="Orphanet:320350"}
xref: Orphanet:320350 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017917
name: maternally-inherited spastic paraplegia
def: "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination." [Orphanet:320360]
subset: gard_rare {source="GARD:21433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:320360"}
subset: orphanet_rare {source="Orphanet:320360"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternally-inherited SPG" EXACT [Orphanet:320360]
synonym: "MT-ATP6-related mitochondrial spastic paraplegia" EXACT [https://orcid.org/0000-0001-6330-7526, Orphanet:320360]
xref: GARD:21433 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:320360/attributed", source="Orphanet:320360/ntbt", source="Orphanet:320360"}
xref: MEDGEN:1663227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:320360 {source="MONDO:equivalentTo"}
xref: UMLS:C4755299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1663227"}
is_a: MONDO:0015150 {source="Orphanet:320360"} ! complex hereditary spastic paraplegia

[Term]
id: MONDO:0017918
name: white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
def: "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition." [https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome]
subset: gard_rare {source="GARD:12488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3207"}
subset: ordo_malformation_syndrome {source="Orphanet:3207"}
subset: orphanet_rare {source="Orphanet:3207"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Curatolo Cilio Pessagno syndrome" RELATED [GARD:0005560]
synonym: "Curatolo-Cilio-Pessagno syndrome" EXACT [Orphanet:3207]
synonym: "familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency" RELATED [GARD:0005560]
xref: GARD:12488 {source="MONDO:GARD"}
xref: MEDGEN:419038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536701 {source="MONDO:equivalentTo"}
xref: Orphanet:3207 {source="MONDO:equivalentTo"}
xref: UMLS:C2931292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419038"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3207", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome" xsd:anyURI {source="GARD:0005560"}

[Term]
id: MONDO:0017919
name: exstrophy-epispadias complex
def: "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." [Orphanet:322]
subset: gard_rare {source="GARD:2207", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:322"}
subset: ordo_malformation_syndrome {source="Orphanet:322"}
subset: orphanet_rare {source="Orphanet:322"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BEEC" NARROW ABBREVIATION [Orphanet:322]
synonym: "bladder exstrophy-epispadias-cloacal extrophy complex" NARROW [Orphanet:322]
synonym: "EEC" EXACT ABBREVIATION [Orphanet:322]
synonym: "OEIS complex" EXACT [https://github.com/monarch-initiative/mondo/issues/3650]
synonym: "OEIS syndrome" EXACT [NCIT:C99142]
xref: DOID:0080173 {source="MONDO:equivalentTo"}
xref: GARD:2207 {source="MONDO:GARD"}
xref: ICD10CM:Q64.1 {source="Orphanet:322/attributed", source="Orphanet:322/ntbt", source="Orphanet:322"}
xref: MEDGEN:338020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99142 {source="MONDO:equivalentTo"}
xref: OMIM:258040 {source="DOID:0080173", source="MONDO:equivalentTo", source="Orphanet:322/btnt", source="Orphanet:322"}
xref: Orphanet:322 {source="DOID:0080173", source="MONDO:equivalentTo"}
xref: UMLS:C1850321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338020"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:322", source="Orphanet:322/inferred"} ! kidney disorder
is_a: MONDO:0019356 {source="Orphanet:322/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! urogenital tract malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:322", source="Orphanet:322/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015215 {source="Orphanet:322", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic diaphragmatic or abdominal wall malformation
relationship: excluded_subClassOf MONDO:0015934 {source="Orphanet:322", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic urogenital tract malformation of male and female
relationship: excluded_subClassOf MONDO:0019719 {source="Orphanet:322/inferred", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! congenital anomaly of kidney and urinary tract
relationship: excluded_subClassOf MONDO:0019720 {source="Orphanet:322", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic renal or urinary tract malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3650" xsd:anyURI

[Term]
id: MONDO:0017920
name: deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
def: "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance)." [Orphanet:3224]
subset: gard_rare {source="GARD:4303", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3224"}
subset: ordo_malformation_syndrome {source="Orphanet:3224"}
subset: orphanet_rare {source="Orphanet:3224"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pfeiffer Kapferer syndrome" RELATED [GARD:0004303]
synonym: "Pfeiffer-Kapferer syndrome" EXACT [Orphanet:3224]
synonym: "sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5" RELATED [GARD:0004303]
synonym: "short stature, intellectual disability and multiple dysmorphisms" RELATED [GARD:0004303]
synonym: "short stature, mental retardation and multiple dysmorphisms" RELATED DEPRECATED [GARD:0004303]
xref: GARD:4303 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3224", source="Orphanet:3224/attributed", source="Orphanet:3224/ntbt"}
xref: MEDGEN:419464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537887 {source="MONDO:equivalentTo"}
xref: Orphanet:3224 {source="MONDO:equivalentTo"}
xref: SCTID:721086004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419464"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:3224"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3224", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0017921
name: hearing loss-familial salivary gland insensitivity to aldosterone syndrome
def: "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive." [Orphanet:3225]
subset: gard_rare {source="GARD:18788", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3225"}
subset: ordo_malformation_syndrome {source="Orphanet:3225"}
subset: orphanet_rare {source="Orphanet:3225"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hearing loss and familial salivary gland insensitivity to aldosterone" RELATED [GARD:0000422]
synonym: "hearing loss insensitivity to aldosterone" RELATED [GARD:0000422]
synonym: "Tungland-Bellman syndrome" EXACT [Orphanet:3225]
synonym: "Tunglang savage Bellman syndrome" RELATED [GARD:0000422]
xref: GARD:18788 {source="MONDO:GARD"}
xref: MEDGEN:419395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536927 {source="MONDO:equivalentTo"}
xref: Orphanet:3225 {source="MONDO:equivalentTo"}
xref: SCTID:716239006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419395"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0017922
name: obsolete deafness-onychodystrophy syndrome
def: "OBSOLETE. Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." [Orphanet:3231]
subset: ordo_group_of_disorders {source="Orphanet:3231"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:16624 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.8 {source="Orphanet:3231/attributed", source="Orphanet:3231/ntbt", source="Orphanet:3231"}
xref: Orphanet:3231 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3231", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017923
name: multiple synostoses syndrome
def: "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." [Orphanet:3237]
subset: gard_rare {source="GARD:3836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3237"}
subset: ordo_malformation_syndrome {source="Orphanet:3237"}
subset: orphanet_rare {source="Orphanet:3237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness-Hermann type symphalangism syndrome" EXACT [Orphanet:3237]
synonym: "facio-audio-symphalangism" EXACT [Orphanet:3237]
synonym: "symphalangism-brachydactyly syndrome" EXACT [Orphanet:3237]
synonym: "WL syndrome" EXACT [Orphanet:3237]
xref: DOID:0050794 {source="MONDO:equivalentTo"}
xref: GARD:3836 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:3237/attributed", source="Orphanet:3237/ntbt", source="Orphanet:3237"}
xref: MEDGEN:511579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:186500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:3237 {source="MONDO:equivalentTo"}
xref: UMLS:C0175700 {source="MEDGEN:511579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001411 {source="PMID:32259393", source="https://orcid.org/0009-0001-6494-4831"} ! synostosis
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0019054 ! congenital limb malformation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:186500"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017924
name: central nervous system calcification-deafness-tubular acidosis-anemia syndrome
def: "This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family." [Orphanet:3240]
subset: gard_rare {source="GARD:18789", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3240"}
subset: orphanet_rare {source="Orphanet:3240"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Yoshimura-Takeshita syndrome" EXACT [Orphanet:3240]
xref: GARD:18789 {source="MONDO:GARD"}
xref: MEDGEN:1384620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3240 {source="MONDO:equivalentTo"}
xref: UMLS:C4512024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1384620"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3240", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017925
name: T-cell immunodeficiency with epidermodysplasia verruciformis
def: "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." [Orphanet:324294]
subset: gard_rare {source="GARD:17483", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324294"}
subset: orphanet_rare {source="Orphanet:324294"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "T-cell immunodeficiency due to RHOH deficiency" EXACT [Orphanet:324294]
xref: GARD:17483 {source="MONDO:GARD"}
xref: ICD10CM:D84.8 {source="Orphanet:324294/attributed", source="Orphanet:324294/ntbt", source="Orphanet:324294"}
xref: MEDGEN:1648416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324294 {source="MONDO:equivalentTo"}
xref: UMLS:C4749500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648416"}
is_a: MONDO:0003778 {source="PMID:34416085", source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017926
name: multiple paragangliomas associated with polycythemia
subset: gard_rare {source="GARD:21435", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324299"}
subset: orphanet_rare {source="Orphanet:324299"}
subset: rare
synonym: "multiple paragangliomas associated with erythrocytosis" EXACT [Orphanet:324299]
synonym: "paraganglioma-somatostatinoma-polycythemia syndrome" EXACT [Orphanet:324299]
xref: GARD:21435 {source="MONDO:GARD"}
xref: MEDGEN:1812993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324299 {source="MONDO:equivalentTo"}
xref: UMLS:C5679884 {source="MEDGEN:1812993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017190 {source="Orphanet:324299"} ! sporadic pheochromocytoma/secreting paraganglioma

[Term]
id: MONDO:0017927
name: severe lateral tibial bowing with short stature
def: "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." [Orphanet:324307]
subset: gard_rare {source="GARD:21436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324307"}
subset: orphanet_rare {source="Orphanet:324307"}
subset: rare
xref: GARD:21436 {source="MONDO:GARD"}
xref: ICD10CM:Q68.4 {source="Orphanet:324307", source="Orphanet:324307/attributed", source="Orphanet:324307/ntbt"}
xref: MEDGEN:1634340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324307 {source="MONDO:equivalentTo"}
xref: SCTID:766819001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707850 {source="MEDGEN:1634340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019698 {source="Orphanet:324307"} ! bent bone dysplasia

[Term]
id: MONDO:0017928
name: 9p13 microdeletion syndrome
def: "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." [Orphanet:324313]
subset: gard_rare {source="GARD:21437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324313"}
subset: ordo_malformation_syndrome {source="Orphanet:324313"}
subset: orphanet_rare {source="Orphanet:324313"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(9)(p13)" EXACT [Orphanet:324313]
synonym: "monosomy 9p13" EXACT [Orphanet:324313]
xref: GARD:21437 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:324313/attributed", source="Orphanet:324313/ntbt", source="Orphanet:324313"}
xref: MEDGEN:1635922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324313 {source="MONDO:equivalentTo"}
xref: SCTID:764725008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635922"}
is_a: MONDO:0000508 {source="Orphanet:324313"} ! syndromic intellectual disability
is_a: MONDO:0008013 {source="Orphanet:324313"} ! chromosome 9p deletion syndrome
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr9p13 ! 9p13 (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0017929
name: congenital achiasma
def: "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." [Orphanet:324353]
subset: gard_rare {source="GARD:21438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324353"}
subset: ordo_morphological_anomaly {source="Orphanet:324353"}
subset: orphanet_rare {source="Orphanet:324353"}
subset: rare
xref: GARD:21438 {source="MONDO:GARD"}
xref: ICD10CM:H47.4 {source="MONDO:relatedTo", source="Orphanet:324353/attributed", source="Orphanet:324353/ntbt", source="Orphanet:324353"}
xref: MEDGEN:1392790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324353 {source="MONDO:equivalentTo"}
xref: SCTID:734031008 {source="MONDO:equivalentTo"}
xref: UMLS:C4518345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392790"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-4142-7153"} ! nervous system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017930
name: mixed sclerosing bone dystrophy with extra-skeletal manifestations
subset: gard_rare {source="GARD:21439", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:324364"}
subset: orphanet_rare {source="Orphanet:324364"}
subset: rare
xref: GARD:21439 {source="MONDO:GARD"}
xref: ICD10CM:M85.8 {source="Orphanet:324364/attributed", source="Orphanet:324364/ntbt", source="Orphanet:324364"}
xref: MEDGEN:1676501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324364 {source="MONDO:equivalentTo"}
xref: UMLS:C5191052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676501"}
is_a: MONDO:0005381 {source="Orphanet:324364"} ! bone disorder
relationship: disease_has_feature HP:0011001 {source="Orphanet:324364"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:324364", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density

[Term]
id: MONDO:0017931
name: hereditary inclusion body myopathy type 4
def: "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." [Orphanet:324381]
subset: gard_rare {source="GARD:21440", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324381"}
subset: orphanet_rare {source="Orphanet:324381"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HIBM4" EXACT ABBREVIATION [Orphanet:324381]
xref: GARD:21440 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:324381", source="Orphanet:324381/attributed", source="Orphanet:324381/ntbt"}
xref: MEDGEN:1669421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324381 {source="MONDO:equivalentTo"}
xref: UMLS:C4749501 {source="MEDGEN:1669421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016112 {source="Orphanet:324381"} ! hereditary inclusion-body myopathy

[Term]
id: MONDO:0017932
name: muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
subset: gard_rare {source="GARD:21441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324416"}
subset: ordo_malformation_syndrome {source="Orphanet:324416"}
subset: orphanet_rare {source="Orphanet:324416"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21441 {source="MONDO:GARD"}
xref: MEDGEN:1665387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324416 {source="MONDO:equivalentTo"}
xref: UMLS:C4751007 {source="MEDGEN:1665387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:324416"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0017933
name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
def: "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." [Orphanet:324525]
subset: gard_rare {source="GARD:21442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324525"}
subset: orphanet_rare {source="Orphanet:324525"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation" EXACT [Orphanet:324525]
xref: GARD:21442 {source="MONDO:GARD"}
xref: ICD10CM:I42.2 {source="Orphanet:324525/attributed", source="Orphanet:324525/ntbt", source="Orphanet:324525"}
xref: MEDGEN:1650300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324525 {source="MONDO:equivalentTo"}
xref: UMLS:C4749942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1650300"}
is_a: MONDO:0016387 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0017934
name: aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
def: "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." [Orphanet:324540]
subset: gard_rare {source="GARD:21443", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:324540"}
subset: ordo_malformation_syndrome {source="Orphanet:324540"}
subset: orphanet_rare {source="Orphanet:324540"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540]
synonym: "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome" EXACT [Orphanet:324540]
xref: GARD:21443 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:324540/attributed", source="Orphanet:324540/ntbt", source="Orphanet:324540"}
xref: MEDGEN:1651057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324540 {source="MONDO:equivalentTo"}
xref: UMLS:C4751006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1651057"}
is_a: MONDO:0015159 {source="Orphanet:324540"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324540", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0017935
name: hyperinsulinism due to HNF1A deficiency
def: "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life." [Orphanet:324575]
subset: gard_rare {source="GARD:21444", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324575"}
subset: orphanet_rare {source="Orphanet:324575"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperinsulinemic hypoglycemia due to HNF1A deficiency" EXACT [Orphanet:324575]
xref: GARD:21444 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:324575", source="Orphanet:324575/attributed", source="Orphanet:324575/ntbt"}
xref: MEDGEN:929144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324575 {source="MONDO:equivalentTo"}
xref: SCTID:721234004 {source="MONDO:equivalentTo"}
xref: UMLS:C4303475 {source="MONDO:equivalentTo", source="MEDGEN:929144", source="MONDO:MEDGEN"}
is_a: MONDO:0015624 {source="Orphanet:324575"} ! diazoxide-sensitive diffuse hyperinsulinism

[Term]
id: MONDO:0017936
name: benign Samaritan congenital myopathy
def: "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood." [Orphanet:324581]
subset: gard_rare {source="GARD:21445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324581"}
subset: orphanet_rare {source="Orphanet:324581"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21445 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:324581", source="Orphanet:324581/attributed", source="Orphanet:324581/ntbt"}
xref: MEDGEN:1666762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324581 {source="MONDO:equivalentTo"}
xref: UMLS:C4749502 {source="MEDGEN:1666762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="Orphanet:324581"} ! congenital myopathy

[Term]
id: MONDO:0017937
name: autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
subset: gard_rare {source="GARD:21446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324585"}
subset: orphanet_rare {source="Orphanet:324585"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21446 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:324585/attributed", source="Orphanet:324585/ntbt", source="Orphanet:324585"}
xref: MEDGEN:1650625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324585 {source="MONDO:equivalentTo"}
xref: UMLS:C4755257 {source="MEDGEN:1650625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019548 {source="Orphanet:324585", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease

[Term]
id: MONDO:0017938
name: obsolete X-linked cleft palate and ankyloglossia
comment: These two terms are duplicates.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2015" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010560

[Term]
id: MONDO:0017939
name: classic multiminicore myopathy
subset: gard_rare {source="GARD:13661", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:324604"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic MmD" BROAD [Orphanet:324604]
synonym: "classic multiminicore disease" BROAD [Orphanet:324604]
synonym: "classic multiminicore myopathy" EXACT [Orphanet:324604]
synonym: "minicore myopathy" RELATED [HP:0003789]
xref: GARD:13661 {source="MONDO:GARD"}
xref: HP:0003789 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G71.2 {source="Orphanet:324604", source="Orphanet:324604/attributed", source="Orphanet:324604/ntbt"}
xref: MEDGEN:1826166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324604 {source="MONDO:equivalentTo"}
xref: UMLS:C5679883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826166"}
is_a: MONDO:0018948 {source="Orphanet:324604"} ! multiminicore myopathy
is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy
is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6905" xsd:anyURI

[Term]
id: MONDO:0017940
name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
def: "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." [Orphanet:324611]
subset: gard_rare {source="GARD:21447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324611"}
subset: orphanet_rare {source="Orphanet:324611"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMT2 due to KIF5A mutation" EXACT [Orphanet:324611]
xref: GARD:21447 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:324611", source="Orphanet:324611/attributed", source="Orphanet:324611/ntbt"}
xref: MEDGEN:1633598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324611 {source="MONDO:equivalentTo"}
xref: SCTID:764730007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633598"}
is_a: MONDO:0018993 {source="Orphanet:324611"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6323 ! KIF5A

[Term]
id: MONDO:0017941
name: chikungunya
def: "An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia." [NCIT:C128422]
subset: gard_rare {source="GARD:6038", source="MONDO:GARD"}
subset: nord_rare {source="NORD:924", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324625"}
subset: orphanet_rare {source="Orphanet:324625"}
subset: rare
synonym: "arbovirus A Chikungunya type" RELATED [GARD:0006038]
synonym: "CHIK" RELATED ABBREVIATION [GARD:0006038]
synonym: "Chikungunya fever" EXACT [DOID:0050012]
synonym: "Chikungunya virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chikungunya virus disease or disorder" EXACT []
synonym: "Chikungunya virus infection" RELATED [GARD:0006038]
synonym: "Chikungunya virus infectious disease" EXACT []
synonym: "CHIKV infection" RELATED [GARD:0006038]
synonym: "CK" RELATED ABBREVIATION [GARD:0006038]
xref: DOID:0050012 {source="MONDO:equivalentTo"}
xref: GARD:6038 {source="MONDO:GARD"}
xref: ICD10CM:A92.0 {source="Orphanet:324625", source="Orphanet:324625/e"}
xref: icd11.foundation:900389391 {source="MONDO:equivalentTo", source="Orphanet:324625", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:3362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065632 {source="MONDO:equivalentTo"}
xref: NCIT:C128422 {source="MONDO:equivalentTo"}
xref: NORD:924 {source="MONDO:NORD"}
xref: Orphanet:324625 {source="MONDO:equivalentTo"}
xref: SCTID:111864006 {source="MONDO:equivalentTo"}
xref: UMLS:C0008055 {source="MEDGEN:3362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:0050012", source="MESH:D065632/inferred", source="MONDO:Redundant", source="NCIT:C128422"} ! viral infectious disease
is_a: MONDO:0018093 {source="Orphanet:324625"} ! arbovirus fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:37124 ! disease has primary infectious agent Chikungunya virus
relationship: disease_has_feature HP:0000988 {source="MONDO:Wikidata"} ! Skin rash
relationship: disease_has_feature MONDO:0006547 {source="MONDO:Wikidata"} ! exanthem
relationship: disease_has_infectious_agent NCBITaxon:37124 {source="MONDO:Wikidata"} ! Chikungunya virus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6038/chikungunya" xsd:anyURI {source="GARD:0006038"}

[Term]
id: MONDO:0017942
name: Hendra virus infection
def: "Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported." [Orphanet:324632]
subset: gard_rare {source="GARD:21448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324632"}
subset: orphanet_rare {source="Orphanet:324632"}
subset: rare
synonym: "Hendra henipavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Hendra henipavirus disease or disorder" EXACT []
synonym: "Hendra henipavirus infectious disease" EXACT []
xref: GARD:21448 {source="MONDO:GARD"}
xref: ICD10CM:B33.8 {source="Orphanet:324632/ntbt", source="Orphanet:324632"}
xref: MEDGEN:1388276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324632 {source="MONDO:equivalentTo"}
xref: UMLS:C4505487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388276"}
is_a: MONDO:0020067 {source="Orphanet:324632"} ! infectious encephalitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:63330 ! disease has primary infectious agent

[Term]
id: MONDO:0017943
name: autoerythrocyte sensitization syndrome
subset: gard_rare {source="GARD:6481", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324636"}
subset: orphanet_rare {source="Orphanet:324636"}
subset: rare
synonym: "Autoerythrocyte sensitization" RELATED [GARD:0006481]
synonym: "Autoerythrocyte sensitization purpura" RELATED [GARD:0006481]
synonym: "Gardner-Diamond syndrome" EXACT [Orphanet:324636]
synonym: "GDS" EXACT ABBREVIATION [Orphanet:324636]
synonym: "painful bruising syndrome" EXACT [Orphanet:324636]
synonym: "psychogenic purpura" EXACT [Orphanet:324636]
xref: GARD:6481 {source="MONDO:GARD"}
xref: ICD10CM:D69.2 {source="Orphanet:324636", source="Orphanet:324636/ntbt"}
xref: ICD9:287.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535645 {source="MONDO:equivalentTo"}
xref: Orphanet:324636 {source="MONDO:equivalentTo"}
xref: SCTID:275446004 {source="MONDO:equivalentTo"}
xref: UMLS:C0301928 {source="MEDGEN:90141", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="Orphanet:324636"} ! autoimmune disease

[Term]
id: MONDO:0017944
name: invasive non-typhoidal salmonellosis
def: "Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed." [Orphanet:324648]
subset: gard_rare {source="GARD:21449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324648"}
subset: orphanet_rare {source="Orphanet:324648"}
subset: rare
synonym: "iNTS disease" EXACT [Orphanet:324648]
synonym: "invasive non-typhoidal salmonella disease" EXACT [Orphanet:324648]
xref: GARD:21449 {source="MONDO:GARD"}
xref: ICD10CM:A02.0 {source="Orphanet:324648", source="Orphanet:324648/btnt"}
xref: ICD10CM:A02.1 {source="Orphanet:324648", source="Orphanet:324648/btnt"}
xref: ICD10CM:A02.2 {source="Orphanet:324648", source="Orphanet:324648/btnt"}
xref: ICD10CM:A02.8 {source="Orphanet:324648", source="Orphanet:324648/btnt"}
xref: ICD10CM:A02.9 {source="Orphanet:324648", source="Orphanet:324648/btnt"}
xref: MEDGEN:1638286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324648 {source="MONDO:equivalentTo"}
xref: SCTID:763772002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638286"}
is_a: MONDO:0000827 {source="Orphanet:324648"} ! salmonellosis

[Term]
id: MONDO:0017945
name: ABetaL34V amyloidosis
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." [Orphanet:324703]
subset: gard_rare {source="GARD:17489", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:324703"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABeta amyloidosis, Piedmont type" EXACT [Orphanet:324703]
synonym: "ABetaL34V-related amyloidosis" EXACT [Orphanet:324703]
synonym: "HCHWA, Piedmont type" EXACT [Orphanet:324703]
synonym: "hereditary cerebral haemorrhage with amyloidosis, Piedmont type" EXACT OMO:0003005 []
synonym: "hereditary cerebral hemorrhage with amyloidosis, Piedmont type" EXACT [Orphanet:324703]
xref: GARD:17489 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"}
xref: ICD10EXP:I68.0* {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"}
xref: MEDGEN:1842835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324703 {source="MONDO:equivalentTo"}
xref: UMLS:C5679882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842835"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related

[Term]
id: MONDO:0017946
name: ABeta amyloidosis, Iowa type
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." [Orphanet:324708]
subset: gard_rare {source="GARD:17490", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:324708"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABetaD23N amyloidosis" EXACT [Orphanet:324708]
synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" EXACT [DOID:0070028, OMIM:605714]
synonym: "HCHWA, Iowa type" EXACT [Orphanet:324708]
synonym: "hereditary cerebral haemorrhage with amyloidosis, Iowa type" EXACT OMO:0003005 []
synonym: "hereditary cerebral hemorrhage with amyloidosis, Iowa type" EXACT [Orphanet:324708]
xref: GARD:17490 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"}
xref: ICD10EXP:I68.0* {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"}
xref: MEDGEN:854855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324708 {source="MONDO:equivalentTo"}
xref: UMLS:C3888309 {source="MONDO:equivalentTo", source="MEDGEN:854855", source="MONDO:MEDGEN"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related

[Term]
id: MONDO:0017947
name: ABeta amyloidosis, Italian type
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." [Orphanet:324713]
subset: gard_rare {source="GARD:17491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:324713"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABetaE22K amyloidosis" EXACT [Orphanet:324713]
synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" EXACT [DOID:0070028, OMIM:605714]
synonym: "HCHWA, Italian type" EXACT [Orphanet:324713]
synonym: "hereditary cerebral haemorrhage with amyloidosis, Italian type" EXACT OMO:0003005 []
synonym: "hereditary cerebral hemorrhage with amyloidosis, Italian type" EXACT [Orphanet:324713]
xref: GARD:17491 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"}
xref: ICD10EXP:I68.0* {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"}
xref: MEDGEN:854854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324713 {source="MONDO:equivalentTo"}
xref: UMLS:C3888308 {source="MEDGEN:854854", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related

[Term]
id: MONDO:0017948
name: ABetaA21G amyloidosis
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." [Orphanet:324718]
subset: gard_rare {source="GARD:17492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:324718"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABeta amyloidosis, Flemish type" EXACT [Orphanet:324718]
synonym: "ABetaA21G-related amyloidosis" EXACT [Orphanet:324718]
synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" EXACT [DOID:0070028]
synonym: "HCHWA, Flemish type" EXACT [Orphanet:324718]
synonym: "hereditary cerebral haemorrhage with amyloidosis, Flemish type" EXACT OMO:0003005 []
synonym: "hereditary cerebral hemorrhage with amyloidosis, Flemish type" EXACT [Orphanet:324718]
xref: GARD:17492 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"}
xref: ICD10EXP:I68.0* {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"}
xref: MEDGEN:854853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324718 {source="MONDO:equivalentTo"}
xref: UMLS:C3888307 {source="MEDGEN:854853", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related

[Term]
id: MONDO:0017949
name: ABeta amyloidosis, Arctic type
def: "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." [Orphanet:324723]
subset: gard_rare {source="GARD:17493", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:324723"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABetaE22G amyloidosis" EXACT [Orphanet:324723]
synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" EXACT [DOID:0070028]
synonym: "HCHWA, Arctic type" EXACT [Orphanet:324723]
synonym: "hereditary cerebral haemorrhage with amyloidosis, Arctic type" EXACT OMO:0003005 []
synonym: "hereditary cerebral hemorrhage with amyloidosis, Arctic type" EXACT [Orphanet:324723]
xref: GARD:17493 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"}
xref: ICD10EXP:I68.0* {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"}
xref: MEDGEN:414032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324723 {source="MONDO:equivalentTo"}
xref: UMLS:C2751494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414032"}
is_a: MONDO:0011583 ! cerebral amyloid angiopathy, APP-related

[Term]
id: MONDO:0017950
name: obsolete microcephalic primordial dwarfism
subset: ordo_group_of_disorders {source="Orphanet:324761"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:21450 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.1 {source="Orphanet:324761/attributed", source="Orphanet:324761/ntbt", source="Orphanet:324761"}
xref: Orphanet:324761 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324761", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017951
name: trichorhinophalangeal syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:21451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:324764"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TRPS" EXACT ABBREVIATION [MONDO:Lexical]
xref: GARD:21451 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:324764/attributed", source="Orphanet:324764/ntbt", source="Orphanet:324764"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:190350 {source="MONDO:equivalentTo"}
xref: Orphanet:324764 {source="MONDO:equivalentTo"}
xref: SCTID:18077009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539179"}
is_a: MONDO:0019287 {source="Orphanet:324764"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019695 {source="Orphanet:324764"} ! acromelic dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:190350"} ! inherited

[Term]
id: MONDO:0017952
name: obsolete non-familial rare disease with dilated cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disease or disorder'
subset: ordo_group_of_disorders {source="Orphanet:324767"}
xref: GARD:21452 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:324767 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0000001

[Term]
id: MONDO:0017953
name: hereditary periodic fever syndrome
def: "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:21453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:324924"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary periodic fever syndrome" EXACT [MONDO:patterns/hereditary]
xref: GARD:21453 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:324924", source="Orphanet:324924/attributed", source="Orphanet:324924/ntbt"}
xref: MEDGEN:199651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056660 {source="MONDO:equivalentTo"}
xref: Orphanet:324924 {source="MONDO:equivalentTo"}
xref: UMLS:C0751422 {source="MONDO:equivalentTo", source="MEDGEN:199651", source="MONDO:MEDGEN"}
is_a: MONDO:0015137 {source="MONDO:Redundant", source="Orphanet:324924"} ! periodic fever syndrome
intersection_of: MONDO:0015137 ! periodic fever syndrome
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0017954
name: obsolete pyogenic autoinflammatory syndrome
subset: ordo_group_of_disorders {source="Orphanet:324927"}
xref: GARD:21454 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:324927 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017955
name: obsolete granulomatous autoinflammatory syndrome
subset: ordo_group_of_disorders {source="Orphanet:324930"}
xref: GARD:21455 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:324930 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017956
name: obsolete mixed autoinflammatory and autoimmune syndrome
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome'
subset: ordo_group_of_disorders {source="Orphanet:324933"}
xref: GARD:21456 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:324933 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019751

[Term]
id: MONDO:0017957
name: obsolete unclassified autoinflammatory syndrome
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:324936"}
xref: GARD:21457 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:324936 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0019751

[Term]
id: MONDO:0017958
name: magic syndrome
subset: gard_rare {source="GARD:13371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324972"}
subset: orphanet_rare {source="Orphanet:324972"}
subset: rare
synonym: "mouth and genital ulcers with inflamed cartilage" EXACT [Orphanet:324972]
xref: GARD:13371 {source="MONDO:GARD"}
xref: MEDGEN:590513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324972 {source="MONDO:equivalentTo"}
xref: UMLS:C0406568 {source="MEDGEN:590513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome

[Term]
id: MONDO:0017959
name: obsolete JMP syndrome
is_obsolete: true
replaced_by: MONDO:0009726

[Term]
id: MONDO:0017960
name: obsolete CANDLE syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1271" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009726

[Term]
id: MONDO:0017961
name: obsolete 46,XX disorder of gonadal development
subset: ordo_group_of_disorders {source="Orphanet:325055"}
xref: GARD:21463 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325055 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017962
name: obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess
subset: ordo_group_of_disorders {source="Orphanet:325061"}
synonym: "46,XX DSD induced by fetoplacental androgens excess" EXACT [Orphanet:325061]
xref: GARD:21464 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325061 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017963
name: obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen
subset: ordo_group_of_disorders {source="Orphanet:325093"}
synonym: "46,XX DSD induced by endogenous maternal-derived androgen" EXACT [Orphanet:325093]
xref: GARD:21465 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q56.2 {source="Orphanet:325093", source="Orphanet:325093/ntbt"}
xref: Orphanet:325093 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017964
name: obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen
subset: ordo_group_of_disorders {source="Orphanet:325099"}
synonym: "46,XX DSD induced by exogenous maternal-derived androgen" EXACT [Orphanet:325099]
xref: GARD:21466 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q56.2 {source="Orphanet:325099/ntbt", source="Orphanet:325099"}
xref: Orphanet:325099 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017965
name: obsolete syndrome with 46,XX disorder of sex development
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:325109"}
synonym: "syndrome with 46,XX DSD" EXACT [Orphanet:325109]
xref: GARD:21467 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325109 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0017966
name: obsolete 46,XY disorder of gonadal development
subset: ordo_group_of_disorders {source="Orphanet:325118"}
xref: GARD:21468 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325118 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017967
name: testicular agenesis
subset: gard_rare {source="GARD:5819", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:325124"}
subset: ordo_morphological_anomaly {source="Orphanet:325124"}
subset: orphanet_rare {source="Orphanet:325124"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absence of testes" RELATED [GARD:0005819]
synonym: "anorchia" RELATED [GARD:0005819]
synonym: "bilateral anorchia" EXACT [Orphanet:325124]
synonym: "congenital absence of testes" RELATED [GARD:0005819]
synonym: "empty scrotum" RELATED [GARD:0005819]
xref: GARD:5819 {source="MONDO:GARD"}
xref: ICD10CM:Q55.0 {source="Orphanet:325124/attributed", source="Orphanet:325124/ntbt", source="Orphanet:325124"}
xref: icd11.foundation:1382370664 {source="MONDO:equivalentTo", source="Orphanet:325124"}
xref: MEDGEN:98344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:325124 {source="MONDO:equivalentTo"}
xref: SCTID:371015003 {source="MONDO:equivalentTo"}
xref: UMLS:C0405582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98344"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
is_a: MONDO:0020040 {source="PMID:36909110", source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017968
name: 46,XY ovotesticular disorder of sex development
def: "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated." [Orphanet:325345]
subset: gard_rare {source="GARD:21469", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:325345"}
subset: orphanet_rare {source="Orphanet:325345"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY ovotesticular DSD" EXACT [Orphanet:325345]
xref: GARD:21469 {source="MONDO:GARD"}
xref: MEDGEN:394582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:325345 {source="MONDO:equivalentTo"}
xref: SCTID:763683004 {source="MONDO:equivalentTo"}
xref: UMLS:C2697358 {source="MONDO:equivalentTo", source="MEDGEN:394582", source="MONDO:MEDGEN"}
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017969
name: obsolete 46,XY disorder of sex development of endocrine origin
subset: ordo_group_of_disorders {source="Orphanet:325351"}
synonym: "46,XY DSD of endocrine origin" EXACT [Orphanet:325351]
xref: GARD:21470 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325351 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017970
name: obsolete 46,XY disorder of sex development due to impaired androgen production
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin'
subset: ordo_group_of_disorders {source="Orphanet:325357"}
synonym: "46,XY DSD due to impaired androgen production" EXACT [Orphanet:325357]
xref: GARD:21471 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325357 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017969

[Term]
id: MONDO:0017971
name: obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin'
subset: ordo_group_of_disorders {source="Orphanet:325511"}
synonym: "46,XY DSD due to a cholesterol synthesis defect" EXACT [Orphanet:325511]
xref: GARD:21472 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325511 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017969

[Term]
id: MONDO:0017972
name: classic congenital lipoid adrenal hyperplasia due to STAR deficency
subset: gard_rare {source="GARD:21473", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:325524"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic CLAH" EXACT [Orphanet:325524]
xref: GARD:21473 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:325524", source="Orphanet:325524/attributed", source="Orphanet:325524/ntbt"}
xref: MEDGEN:1842881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:325524 {source="MONDO:equivalentTo"}
xref: UMLS:C5679869 {source="MEDGEN:1842881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008725 {source="Orphanet:325524"} ! congenital lipoid adrenal hyperplasia due to STAR deficency
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017973
name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
subset: gard_rare {source="GARD:21474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:325529"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21474 {source="MONDO:GARD"}
xref: ICD10CM:E25.0 {source="Orphanet:325529", source="Orphanet:325529/attributed", source="Orphanet:325529/ntbt"}
xref: MEDGEN:1842170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:325529 {source="MONDO:equivalentTo"}
xref: UMLS:C5680948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842170"}
is_a: MONDO:0008725 {source="Orphanet:325529"} ! congenital lipoid adrenal hyperplasia due to STAR deficency
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0017974
name: obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors
subset: ordo_group_of_disorders {source="Orphanet:325537"}
synonym: "46,XY DSD induced by maternal-exposure to endocrine disruptors" EXACT [Orphanet:325537]
xref: GARD:21475 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325537 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0017975
name: sex chromosome disorder of sex development
def: "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." [MESH:D058533]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:325546"}
subset: otar {source="MONDO:OTAR"}
synonym: "Sex chromosome DSD" EXACT [Orphanet:325546]
xref: MEDGEN:423530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058533 {source="MONDO:equivalentTo"}
xref: Orphanet:325546 {source="MONDO:equivalentTo"}
xref: UMLS:C2936421 {source="MEDGEN:423530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002145 {source="MESH:D058533", source="Orphanet:325546"} ! disorder of sexual differentiation
is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:325546", source="Orphanet:325546/inferred"} ! endocrine system disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:325546", source="Orphanet:325546/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0017976
name: obsolete disorder of sex development of gynecological interest
comment: These terms are not used clinically.
subset: ordo_group_of_disorders {source="Orphanet:325620"}
synonym: "DSD of gynecological interest" EXACT [Orphanet:325620]
xref: GARD:21477 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325620 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0001967
consider: MONDO:0002145

[Term]
id: MONDO:0017977
name: obsolete 46,XY disorder of sex development of gynecological interest
comment: These terms are not used clinically.
subset: ordo_group_of_disorders {source="Orphanet:325632"}
synonym: "46,XY DSD of gynecological interest" EXACT [Orphanet:325632]
xref: GARD:21478 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325632 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0001967
consider: MONDO:0002145

[Term]
id: MONDO:0017978
name: obsolete syndrome with disorder of sex development of gynecological interest
comment: These terms are not used clinically.
subset: ordo_group_of_disorders {source="Orphanet:325638"}
synonym: "syndrome with DSD of gynecological interest" EXACT [Orphanet:325638]
xref: GARD:21479 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325638 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0001967
consider: MONDO:0002145

[Term]
id: MONDO:0017979
name: autoimmune lymphoproliferative syndrome
def: "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." [Orphanet:3261]
subset: gard_rare {source="GARD:8686", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3261"}
subset: orphanet_rare {source="Orphanet:3261"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALPS" EXACT ABBREVIATION [Orphanet:3261]
synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [DOID:6688]
synonym: "autoimmune lymphoproliferative syndrome type 1, autosomal dominant" RELATED [GARD:0008686]
synonym: "Canale-Smith syndrome" EXACT [DOID:6688, Orphanet:3261]
synonym: "FAS deficiency" EXACT [Orphanet:3261]
xref: CSP:1560-5548 {source="DOID:6688"}
xref: DOID:6688 {source="MONDO:equivalentTo"}
xref: GARD:8686 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="DOID:6688", source="Orphanet:3261/attributed", source="Orphanet:3261/ntbt", source="Orphanet:3261"}
xref: ICD10CM:D89.82 {source="DOID:6688"}
xref: ICD9:279.41 {source="DOID:6688"}
xref: MedDRA:10069521 {source="Orphanet:3261/e", source="Orphanet:3261"}
xref: MESH:D056735 {source="DOID:6688", source="Orphanet:3261/e", source="MONDO:equivalentTo", source="Orphanet:3261"}
xref: NANDO:1200352 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200726 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C37864 {source="DOID:6688", source="MONDO:equivalentTo"}
xref: Orphanet:3261 {source="DOID:6688", source="MONDO:equivalentTo"}
xref: SCTID:702444009 {source="DOID:6688"}
is_a: MONDO:0002459 {source="DOID:6688"} ! type IV hypersensitivity disease
is_a: MONDO:0016537 {source="MESH:D056735", source="MONDO:Redundant", source="Orphanet:3261"} ! lymphoproliferative syndrome
is_a: MONDO:0021058 {source="MONDO:Redundant", source="NCIT:C37864"} ! neoplastic syndrome
intersection_of: MONDO:0016537 ! lymphoproliferative syndrome
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: excluded_subClassOf MONDO:0015757 {source="Orphanet:3261", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoid hemopathy

[Term]
id: MONDO:0017980
name: syngnathia multiple anomalies
subset: gard_rare {source="GARD:5092", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3262"}
subset: ordo_malformation_syndrome {source="Orphanet:3262"}
subset: orphanet_rare {source="Orphanet:3262"}
subset: rare
synonym: "dobrow syndrome" EXACT [MONDO:0023000]
synonym: "syngnathia-multiple anomalies syndrome" EXACT [Orphanet:3262]
xref: GARD:5092 {source="MONDO:GARD"}
xref: MEDGEN:1678646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3262 {source="MONDO:equivalentTo"}
xref: UMLS:C5190737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678646"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-5002-8648"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4453" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome" xsd:anyURI {source="GARD:0001895"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies" xsd:anyURI {source="GARD:0005092"}

[Term]
id: MONDO:0017981
name: syngnathia-cleft palate syndrome
subset: gard_rare {source="GARD:5091", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3263"}
subset: ordo_malformation_syndrome {source="Orphanet:3263"}
subset: orphanet_rare {source="Orphanet:3263"}
subset: rare
synonym: "syngnathia cleft palate" RELATED [GARD:0005091]
xref: GARD:5091 {source="MONDO:GARD"}
xref: MEDGEN:1842763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3263 {source="MONDO:equivalentTo"}
xref: UMLS:C5680792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842763"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0017982
name: obsolete humeroradial synostosis
is_obsolete: true
replaced_by: MONDO:0009356

[Term]
id: MONDO:0017983
name: humero-radio-ulnar synostosis
def: "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." [Orphanet:3266]
subset: gard_rare {source="GARD:2749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3266"}
subset: ordo_morphological_anomaly {source="Orphanet:3266"}
subset: orphanet_rare {source="Orphanet:3266"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "humero-radio-ulnar fusion" EXACT [Orphanet:3266]
xref: GARD:2749 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:3266", source="Orphanet:3266/attributed", source="Orphanet:3266/ntbt"}
xref: icd11.foundation:1798339866 {source="Orphanet:3266", source="MONDO:equivalentTo"}
xref: MEDGEN:1656946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3266 {source="MONDO:equivalentTo"}
xref: UMLS:C4751207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1656946"}
is_a: MONDO:0001411 {source="PMID:12370583", source="https://orcid.org/0009-0001-6494-4831"} ! synostosis
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017984
name: obsolete familial lambdoid synostosis
def: "OBSOLETE. Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure." [Orphanet:3267]
xref: ICD10CM:Q75.0 {source="Orphanet:3267/attributed", source="Orphanet:3267/ntbt", source="Orphanet:3267"}
xref: Orphanet:3267 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:766884000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5782" xsd:anyURI
is_obsolete: true
consider: MONDO:0010929

[Term]
id: MONDO:0017985
name: congenital radioulnar synostosis
def: "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." [Orphanet:3269]
subset: gard_rare {source="GARD:10876", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3269"}
subset: ordo_morphological_anomaly {source="Orphanet:3269"}
subset: orphanet_rare {source="Orphanet:3269"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius" RELATED [GARD:0004630]
synonym: "radial-ulnar synostosis" RELATED [GARD:0010876]
synonym: "radio-ulnar synostosis" RELATED [GARD:0010876]
synonym: "radio-ulnar synostosis type 1" RELATED [GARD:0004630]
synonym: "radioulnar fusion" EXACT [Orphanet:3269]
synonym: "radioulnar synostosis" EXACT [MONDO:ambiguous]
synonym: "radioulnar synostosis (disease)" EXACT [MONDO:0008360]
xref: DOID:9827 {source="MONDO:equivalentTo"}
xref: GARD:10876 {source="MONDO:GARD"}
xref: HP:0002974 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q74.0 {source="Orphanet:3269/inclusion", source="Orphanet:3269/ntbt", source="Orphanet:3269", source="DOID:9827"}
xref: icd11.foundation:1098526181 {source="Orphanet:3269", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:755.53 {source="DOID:9827", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562408 {source="DOID:9827", source="MONDO:equivalentTo"}
xref: Orphanet:3269 {source="MONDO:equivalentTo", source="OMIM:179300"}
xref: SCTID:33313004 {source="DOID:9827", source="MONDO:equivalentTo"}
xref: UMLS:C0158761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57861"}
is_a: MONDO:0001411 {source="PMID:33826558", source="https://orcid.org/0009-0001-6494-4831"} ! synostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0017986
name: disorder of plasmalogens biosynthesis
subset: disease_grouping
subset: gard_rare {source="GARD:18790", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:3276"}
subset: rare
synonym: "disorder of plasmalogens biosynthesis" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
xref: GARD:18790 {source="MONDO:GARD"}
xref: MEDGEN:1842510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200770 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:3276 {source="MONDO:equivalentTo"}
xref: UMLS:C5681192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842510"}
is_a: MONDO:0019053 {source="MONDO:Redundant", source="Orphanet:3276"} ! peroxisomal disease
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
intersection_of: MONDO:0019053 ! peroxisomal disease
intersection_of: disease_has_basis_in_disruption_of GO:0008611 ! ether lipid biosynthetic process

[Term]
id: MONDO:0017987
name: syringomyelia
def: "Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS)." [Orphanet:3280]
subset: disease_grouping
subset: gard_rare {source="GARD:7725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1755"}
subset: ordo_group_of_disorders {source="Orphanet:3280"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydromyelia" RELATED [Orphanet:3280]
xref: DOID:327 {source="MONDO:equivalentTo"}
xref: GARD:7725 {source="MONDO:GARD"}
xref: ICD10CM:G95.0 {source="Orphanet:3280", source="Orphanet:3280/e"}
xref: ICD10CM:Q06.4 {source="Orphanet:3280", source="Orphanet:3280/e"}
xref: MedDRA:10042928 {source="Orphanet:3280", source="Orphanet:3280/e"}
xref: MEDGEN:21449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013595 {source="DOID:327", source="MONDO:equivalentTo", source="Orphanet:3280", source="Orphanet:3280/e"}
xref: NANDO:1200506 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200507 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85179 {source="DOID:327", source="MONDO:equivalentTo"}
xref: NORD:1755 {source="MONDO:NORD"}
xref: Orphanet:3280 {source="MONDO:equivalentTo"}
xref: SCTID:111496009 {source="DOID:327", source="MONDO:equivalentTo"}
xref: SCTID:155020007 {source="DOID:327"}
xref: SCTID:267695005 {source="DOID:327"}
xref: UMLS:C0039144 {source="MEDGEN:21449", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002545 {source="DOID:327", source="MESH:D013595", source="NCIT:C85179"} ! spinal cord disorder
relationship: excluded_subClassOf MONDO:0015141 {source="Orphanet:3280", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of medulla oblongata
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7725/syringomyelia" xsd:anyURI {source="GARD:0007725"}

[Term]
id: MONDO:0017988
name: multifocal atrial tachycardia
def: "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." [Orphanet:3282]
subset: gard_rare {source="GARD:1235", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3282"}
subset: orphanet_rare {source="Orphanet:3282"}
subset: rare
synonym: "chaotic atrial tachycardia" EXACT [Orphanet:3282]
synonym: "MAT" EXACT ABBREVIATION [Orphanet:3282]
synonym: "multifocal atrial tachycardia" EXACT [MONDO:ambiguous]
synonym: "multifocal atrial tachycardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:1235 {source="MONDO:GARD"}
xref: HP:0011701 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I47.1 {source="Orphanet:3282", source="Orphanet:3282/ntbt"}
xref: ICD9:427.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:66362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3282 {source="MONDO:equivalentTo"}
xref: SCTID:49982000 {source="MONDO:equivalentTo"}
xref: UMLS:C0221158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66362"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0007263 {source="https://orcid.org/0000-0002-3458-4839"} ! cardiac rhythm disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000589 "multifocal atrial tachycardia (disease)" xsd:string

[Term]
id: MONDO:0017989
name: His bundle tachycardia
def: "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality." [Orphanet:3283]
subset: gard_rare {source="GARD:2706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3283"}
subset: orphanet_rare {source="Orphanet:3283"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JET" EXACT ABBREVIATION [Orphanet:3283]
synonym: "junctional ectopic tachycardia" EXACT [Orphanet:3283]
xref: GARD:2706 {source="MONDO:GARD"}
xref: ICD10CM:I47.1 {source="Orphanet:3283/e", source="Orphanet:3283/inclusion", source="Orphanet:3283"}
xref: icd11.foundation:962827983 {source="MONDO:equivalentTo", source="Orphanet:3283", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:427.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013613 {source="MONDO:equivalentTo"}
xref: NCIT:C111646 {source="MONDO:equivalentTo"}
xref: Orphanet:3283 {source="MONDO:equivalentTo"}
xref: SCTID:233901002 {source="MONDO:equivalentTo"}
xref: UMLS:C0039235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21066"}
is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia" xsd:anyURI {source="GARD:0002706"}

[Term]
id: MONDO:0017990
name: catecholaminergic polymorphic ventricular tachycardia
def: "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." [Orphanet:3286]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4421", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3286"}
subset: orphanet_rare {source="Orphanet:3286"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bidirectional tachycardia induced by catecholamine" EXACT [Orphanet:3286]
synonym: "catecholamine-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421]
synonym: "catecholaminergic polymorphic ventricular tachycardia" EXACT CLINGEN_LABEL []
synonym: "CPVT" EXACT ABBREVIATION [GARD:0004421, Orphanet:3286]
synonym: "double tachycardia induced by catecholamines" EXACT [Orphanet:3286]
synonym: "familial polymorphic ventricular tachycardia" RELATED [GARD:0004421]
synonym: "malignant paroxysmal ventricular tachycardia" EXACT [Orphanet:3286]
synonym: "multifocal ventricular premature beats" EXACT [GARD:0004421, Orphanet:3286]
synonym: "polymorphic catecholergic ventricular tachycardia" RELATED [GARD:0004421]
synonym: "stress-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421]
synonym: "syncopal paroxysmal tachycardia" RELATED [GARD:0004421]
synonym: "ventricular tachycardia, catecholaminergic polymorphic" EXACT [OMIMPS:604772]
xref: DOID:0060674 {source="MONDO:equivalentTo"}
xref: GARD:4421 {source="MONDO:GARD"}
xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060674", source="Orphanet:3286/attributed", source="Orphanet:3286/ntbt", source="Orphanet:3286"}
xref: icd11.foundation:976309888 {source="MONDO:equivalentTo", source="Orphanet:3286"}
xref: MEDGEN:1803763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536334 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:2200216 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200221 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:604772 {source="DOID:0060674", source="MONDO:equivalentTo"}
xref: Orphanet:3286 {source="GARD:0004421", source="DOID:0060674", source="MONDO:equivalentTo"}
xref: SCTID:419671004 {source="MONDO:equivalentTo"}
xref: UMLS:C5574922 {source="MEDGEN:1803763", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000992 {source="DOID:0060674"} ! heart conduction disease
is_a: MONDO:0020575 {source="https://orcid.org/0000-0001-5208-3432"} ! polymorphic ventricular tachycardia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604772"} ! inherited

[Term]
id: MONDO:0017991
name: Takayasu arteritis
def: "A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." [Orphanet:3287]
subset: gard_rare {source="GARD:7730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:806"}
subset: ordo_disorder {source="Orphanet:3287", source="Orphanet:99079"}
subset: orphanet_rare {source="Orphanet:3287", source="Orphanet:99079"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aortic arch arteritis" EXACT [DOID:2508]
synonym: "aortic arch syndrome" EXACT [DOID:2508, NCIT:C34391, Orphanet:99079]
synonym: "Arteritis, Takayasu" EXACT [NORD:806]
synonym: "cervical aortic arch" EXACT [Orphanet:99079]
synonym: "idiopathic aortitis" EXACT [DOID:2508]
synonym: "pharyngeal arch artery syndromic disease" EXACT [MONDO:patterns/location]
synonym: "pulseless disease" RELATED [OMIM:207600]
synonym: "TA" RELATED ABBREVIATION [GARD:0007730]
synonym: "Takayasu arteritis" EXACT [DOID:2508, OMIM:207600]
synonym: "Takayasu disease" RELATED [GARD:0007730]
synonym: "Takayasu's arteritis" EXACT [MONDO:0008805]
synonym: "Takayasu's disease" EXACT [DOID:2508, ICD9CM:446.7]
synonym: "Young female arteritis" RELATED [OMIM:207600]
xref: DOID:2508 {source="MONDO:equivalentTo"}
xref: EFO:1001857 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7730 {source="MONDO:GARD"}
xref: ICD10CM:M31.4 {source="Orphanet:3287", source="Orphanet:3287/e", source="DOID:2508"}
xref: ICD10CM:Q25.4 {source="Orphanet:99079/ntbt", source="Orphanet:99079"}
xref: icd11.foundation:1327645131 {source="Orphanet:3287", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:446.7 {source="DOID:2508"}
xref: MedDRA:10043097 {source="Orphanet:3287", source="Orphanet:3287/e"}
xref: MEDGEN:21458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001015 {source="DOID:2508"}
xref: MESH:D013625 {source="Orphanet:3287", source="MONDO:equivalentTo", source="Orphanet:3287/e", source="DOID:2508"}
xref: NANDO:1200251 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200423 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34391 {source="MONDO:equivalentTo", source="DOID:2508"}
xref: NCIT:C35062 {source="MONDO:equivalentTo", source="DOID:2508"}
xref: NORD:806 {source="MONDO:NORD"}
xref: OMIM:207600 {source="Orphanet:3287", source="MONDO:equivalentTo", source="Orphanet:3287/e", source="DOID:2508"}
xref: Orphanet:3287 {source="OMIM:207600", source="MONDO:equivalentTo"}
xref: Orphanet:99079 {source="MONDO:equivalentTo"}
xref: SCTID:155445002 {source="DOID:2508"}
xref: SCTID:195361009 {source="DOID:2508"}
xref: SCTID:239937004 {source="MONDO:equivalentTo"}
xref: SCTID:266323005 {source="DOID:2508"}
xref: SCTID:359789008 {source="DOID:2508"}
xref: SCTID:42153001 {source="DOID:2508"}
xref: UMLS:C0039263 {source="MEDGEN:21458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="DOID:2508", source="NCIT:C34391", source="NCIT:C35062/inferred"} ! arterial disorder
is_a: MONDO:0002254 {source="DOID:2508", source="NCIT:C34391"} ! syndromic disease
is_a: MONDO:0015236 {source="Orphanet:99079"} ! aortic arch defects
is_a: MONDO:0043494 {source="EFO:1001857", source="MESH:D013625", source="NCIT:C35062"} ! arteritis
relationship: disease_has_location UBERON:0004363 ! pharyngeal arch artery
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:3287", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0017992
name: autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
subset: gard_rare {source="GARD:17494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329173"}
subset: orphanet_rare {source="Orphanet:329173"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17494 {source="MONDO:GARD"}
xref: MEDGEN:1720168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329173 {source="MONDO:equivalentTo"}
xref: UMLS:C5394674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720168"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0019751 {source="Orphanet:329173/inferred", source="PMID:23889995", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-6601-2165"} ! autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0017993
name: cerebral sinovenous thrombosis
def: "A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents." [PMID:28798906]
subset: gard_rare {source="GARD:21485", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329217"}
subset: orphanet_rare {source="Orphanet:329217"}
subset: rare
synonym: "CSVT" EXACT ABBREVIATION [Orphanet:329217, PMID:28798906]
xref: GARD:21485 {source="MONDO:GARD"}
xref: ICD10CM:I67.6 {source="Orphanet:329217", source="Orphanet:329217/ntbt"}
xref: Orphanet:329217 {source="MONDO:equivalentTo"}
is_a: MONDO:0011057 {source="PMID:28798906"} ! cerebrovascular disorder
relationship: disease_has_feature HP:0001977 {source="PMID:28798906"} ! Abnormal thrombosis
relationship: disease_has_location UBERON:0008998 {source="PMID:28798906"} ! vasculature of brain
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare

[Term]
id: MONDO:0017994
name: severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
subset: gard_rare {source="GARD:21486", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:329249"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21486 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:329249/attributed", source="Orphanet:329249/ntbt", source="Orphanet:329249"}
xref: MEDGEN:1674241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329249 {source="MONDO:equivalentTo"}
xref: UMLS:C5190989 {source="MONDO:equivalentTo", source="MEDGEN:1674241", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30417 {source="Orphanet:329249"} ! SH2B1

[Term]
id: MONDO:0017995
name: spondylocostal dysostosis-hypospadias-intellectual disability syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1665083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329252 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4751002 {source="MEDGEN:1665083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:329252"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329252", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0017996
name: obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency
comment: Obsolete in Orphanet
xref: OMIM:615057 {source="Orphanet:329255/e", source="Orphanet:329255", source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:329255 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0009485

[Term]
id: MONDO:0017997
name: telecanthus-hypertelorism-strabismus-pes cavus syndrome
def: "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." [Orphanet:3293]
subset: gard_rare {source="GARD:18791", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3293"}
subset: ordo_malformation_syndrome {source="Orphanet:3293"}
subset: orphanet_rare {source="Orphanet:3293"}
subset: rare
xref: GARD:18791 {source="MONDO:GARD"}
xref: Orphanet:3293 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:3293"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0017998
name: PLA2G6-associated neurodegeneration
def: "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="GARD:12567", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1302"}
subset: ordo_group_of_disorders {source="Orphanet:329303"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neurodegeneration with brain iron accumulation caused by mutation in PLA2G6" EXACT []
synonym: "PLA2G6 neurodegeneration with brain iron accumulation" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "PLAN" EXACT ABBREVIATION [Orphanet:329303]
xref: GARD:12567 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:329303/attributed", source="Orphanet:329303/ntbt", source="Orphanet:329303"}
xref: NORD:1302 {source="MONDO:NORD"}
xref: Orphanet:329303 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 ! PLA2G6
relationship: excluded_subClassOf MONDO:0018118 {source="Orphanet:329303", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
relationship: excluded_subClassOf MONDO:0018307 {source="Orphanet:329303", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegeneration with brain iron accumulation

[Term]
id: MONDO:0017999
name: fatty acid hydroxylase-associated neurodegeneration
def: "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." [Orphanet:329308]
subset: gard_rare {source="GARD:10810", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329308"}
subset: orphanet_rare {source="Orphanet:329308"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FAHN" EXACT ABBREVIATION [Orphanet:329308]
xref: GARD:10810 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:329308", source="Orphanet:329308/attributed", source="Orphanet:329308/ntbt"}
xref: MEDGEN:777150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580102 {source="MONDO:equivalentTo"}
xref: NANDO:1200541 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:329308 {source="MONDO:equivalentTo"}
xref: UMLS:C3668943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777150"}
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0018307 {source="Orphanet:329308"} ! neurodegeneration with brain iron accumulation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0018000
name: hereditary thrombocytosis with transverse limb defect
def: "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." [Orphanet:329319]
subset: gard_rare {source="GARD:21487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329319"}
subset: orphanet_rare {source="Orphanet:329319"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial thrombocytosis with transverse limb defect" EXACT [Orphanet:329319]
synonym: "thrombocythemia with distal limb defects" RELATED [Orphanet:329319]
xref: GARD:21487 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:329319", source="Orphanet:329319/attributed", source="Orphanet:329319/ntbt"}
xref: MEDGEN:1653707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329319 {source="MONDO:equivalentTo"}
xref: UMLS:C4749944 {source="MEDGEN:1653707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0021181 {source="MONDO:0016636-obsoleted"} ! inherited blood coagulation disorder

[Term]
id: MONDO:0018001
name: inverse Klippel-Trenaunay syndrome
subset: gard_rare {source="GARD:21488", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329324"}
subset: orphanet_rare {source="Orphanet:329324"}
subset: rare
synonym: "cutaneous hemangioma with muscle or bone atrophy" EXACT [Orphanet:329324]
synonym: "inverse Klippel-Trénaunay syndrome" RELATED [Orphanet:329324]
xref: GARD:21488 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:329324/ntbt", source="Orphanet:329324/inclusion", source="Orphanet:329324"}
xref: MEDGEN:1830088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329324 {source="MONDO:equivalentTo"}
xref: UMLS:C5679859 {source="MEDGEN:1830088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024296 ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0018002
name: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
def: "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." [Orphanet:329336]
subset: gard_rare {source="GARD:17503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329336"}
subset: orphanet_rare {source="Orphanet:329336"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT [Orphanet:329336]
xref: GARD:17503 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:329336/attributed", source="Orphanet:329336/ntbt", source="Orphanet:329336"}
xref: MEDGEN:1393682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329336 {source="MONDO:equivalentTo"}
xref: SCTID:725464001 {source="MONDO:equivalentTo"}
xref: UMLS:C4511138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1393682"}
is_a: MONDO:0009637 {source="Orphanet:329336"} ! inborn mitochondrial myopathy
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder

[Term]
id: MONDO:0018003
name: limbic encephalitis with DPP6 antibodies
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "limbic encephalitis with dipeptidyl-peptidase 6 antibodies" EXACT [Orphanet:329341]
synonym: "limbic encephalitis with DPPX antibodies" EXACT [Orphanet:329341]
xref: ICD10CM:G13.1 {source="Orphanet:329341", source="Orphanet:329341/ntbt"}
xref: MEDGEN:1664407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329341 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4750833 {source="MEDGEN:1664407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015588 {source="https://orcid.org/0000-0001-5208-3432"} ! limbic encephalitis

[Term]
id: MONDO:0018004
name: acute megakaryoblastic leukemia without down syndrome
subset: gard_rare {source="GARD:21490", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:329469"}
subset: rare
synonym: "non-DS-AMKL" EXACT [Orphanet:329469]
xref: GARD:21490 {source="MONDO:GARD"}
xref: ICD10CM:C94.2 {source="Orphanet:329469/ntbt", source="Orphanet:329469"}
xref: MEDGEN:1843134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329469 {source="MONDO:equivalentTo"}
xref: UMLS:C5679860 {source="MEDGEN:1843134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018872 {source="Orphanet:329469"} ! acute megakaryoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018005
name: spastic paraplegia-Paget disease of bone syndrome
def: "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." [Orphanet:329475]
subset: gard_rare {source="GARD:21491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329475"}
subset: orphanet_rare {source="Orphanet:329475"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21491 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:329475/attributed", source="Orphanet:329475/ntbt", source="Orphanet:329475"}
xref: MEDGEN:1388986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329475 {source="MONDO:equivalentTo"}
xref: UMLS:C4511969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388986"}
is_a: MONDO:0015087 {source="Orphanet:329475"} ! autosomal dominant complex spastic paraplegia
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:329475", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components

[Term]
id: MONDO:0018006
name: adult-onset distal myopathy due to VCP mutation
def: "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." [Orphanet:329478]
subset: gard_rare {source="GARD:21492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329478"}
subset: orphanet_rare {source="Orphanet:329478"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21492 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:329478/attributed", source="Orphanet:329478/ntbt", source="Orphanet:329478"}
xref: MEDGEN:1660404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329478 {source="MONDO:equivalentTo"}
xref: UMLS:C4749506 {source="MEDGEN:1660404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016108 {source="Orphanet:329478"} ! autosomal dominant distal myopathy
intersection_of: MONDO:0016108 ! autosomal dominant distal myopathy
intersection_of: has_characteristic HP:0003581 ! Adult onset
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 ! VCP

[Term]
id: MONDO:0018007
name: mosaic genome-wide paternal uniparental disomy
subset: gard_rare {source="GARD:21493", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329813"}
subset: ordo_malformation_syndrome {source="Orphanet:329813"}
subset: orphanet_rare {source="Orphanet:329813"}
subset: rare
synonym: "androgenetic/biparental mosaicism" EXACT [Orphanet:329813]
synonym: "genome-wide paternal uniparental disomy mosaicism" EXACT [Orphanet:329813]
synonym: "Mosaic genome-wide paternal UPD" EXACT [Orphanet:329813]
xref: GARD:21493 {source="MONDO:GARD"}
xref: MEDGEN:1679626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329813 {source="MONDO:equivalentTo"}
xref: UMLS:C5190828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679626"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0018008
name: idiopathic giant cell myocarditis
subset: gard_rare {source="GARD:21494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329874"}
subset: orphanet_rare {source="Orphanet:329874"}
subset: rare
synonym: "IGCM" EXACT ABBREVIATION [Orphanet:329874]
xref: GARD:21494 {source="MONDO:GARD"}
xref: ICD10CM:I40.8 {source="Orphanet:329874/ntbt", source="Orphanet:329874"}
xref: MEDGEN:82685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329874 {source="MONDO:equivalentTo"}
xref: UMLS:C0264856 {source="MEDGEN:82685", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004994 {source="Orphanet:329874"} ! cardiomyopathy
intersection_of: MONDO:0023232 ! giant cell myocarditis
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018009
name: non-hypoproteinemic hypertrophic gastropathy
def: "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema." [Orphanet:329883]
subset: gard_rare {source="GARD:21495", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329883"}
subset: orphanet_rare {source="Orphanet:329883"}
subset: rare
synonym: "hypertrophic gastropathy without hypoproteinemia" EXACT [Orphanet:329883]
xref: GARD:21495 {source="MONDO:GARD"}
xref: ICD10CM:K29.6 {source="Orphanet:329883", source="Orphanet:329883/ntbt"}
xref: MEDGEN:1654450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329883 {source="MONDO:equivalentTo"}
xref: UMLS:C4750834 {source="MEDGEN:1654450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004298 {source="https://orcid.org/0000-0002-3458-4839"} ! stomach disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0018010
name: juvenile idiopathic inflammatory myopathy
subset: disease_grouping
subset: gard_rare {source="GARD:21496", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:329888"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JIIM" EXACT ABBREVIATION [Orphanet:329888]
xref: GARD:21496 {source="MONDO:GARD"}
xref: MEDGEN:1842624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329888 {source="MONDO:equivalentTo"}
xref: UMLS:C5679857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842624"}
is_a: MONDO:0020122 {source="Orphanet:329888"} ! acquired idiopathic inflammatory myopathy

[Term]
id: MONDO:0018011
name: juvenile overlap myositis
def: "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients." [Orphanet:329894]
subset: gard_rare {source="GARD:21497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329894"}
subset: orphanet_rare {source="Orphanet:329894"}
subset: rare
xref: GARD:21497 {source="MONDO:GARD"}
xref: ICD10CM:M33.0 {source="Orphanet:329894", source="Orphanet:329894/ntbt"}
xref: MEDGEN:1634026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329894 {source="MONDO:equivalentTo"}
xref: SCTID:766252004 {source="MONDO:equivalentTo"}
xref: UMLS:C4707728 {source="MEDGEN:1634026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018010 {source="Orphanet:329894"} ! juvenile idiopathic inflammatory myopathy

[Term]
id: MONDO:0018012
name: obsolete tetanus
is_obsolete: true
replaced_by: MONDO:0005526

[Term]
id: MONDO:0018013
name: non-immunoglobulin-mediated membranoproliferative glomerulonephritis
subset: gard_rare {source="GARD:17507", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:329918"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C3 glomerulopathy" EXACT [Orphanet:329918]
synonym: "non-Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329918]
synonym: "non-Ig-mediated MPGN" EXACT [Orphanet:329918]
synonym: "non-immunoglobulin-mediated MPGN" EXACT [Orphanet:329918]
xref: GARD:17507 {source="MONDO:GARD"}
xref: ICD10CM:N00.5 {source="Orphanet:329918", source="Orphanet:329918/attributed", source="Orphanet:329918/ntbt"}
xref: MEDGEN:1672497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329918 {source="MONDO:equivalentTo"}
xref: UMLS:C4087273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672497"}
is_a: MONDO:0018904 {source="Orphanet:329918"} ! primary membranoproliferative glomerulonephritis

[Term]
id: MONDO:0018014
name: transient neonatal multiple acyl-CoA dehydrogenase deficiency
def: "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." [Orphanet:329942]
subset: gard_rare {source="GARD:21498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329942"}
subset: orphanet_rare {source="Orphanet:329942"}
subset: rare
synonym: "transient neonatal glutaric acidemia type 2" EXACT [Orphanet:329942]
synonym: "transient neonatal glutaric aciduria type 2" EXACT [Orphanet:329942]
synonym: "transient neonatal MAD deficiency" EXACT [Orphanet:329942]
synonym: "transient neonatal MADD" EXACT [Orphanet:329942]
xref: GARD:21498 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:329942/attributed", source="Orphanet:329942/ntbt", source="Orphanet:329942"}
xref: MEDGEN:1373921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329942 {source="MONDO:equivalentTo"}
xref: SCTID:723552005 {source="MONDO:equivalentTo"}
xref: UMLS:C4509950 {source="MEDGEN:1373921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017714 {source="Orphanet:329942"} ! acyl-CoA dehydrogenase deficiency
relationship: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0018015
name: intermittent hydrarthrosis
subset: gard_rare {source="GARD:21499", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329967"}
subset: orphanet_rare {source="Orphanet:329967"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21499 {source="MONDO:GARD"}
xref: ICD10CM:M12.4 {source="Orphanet:329967", source="MONDO:equivalentTo", source="Orphanet:329967/e", source="Orphanet:329967/specific"}
xref: icd11.foundation:1855039383 {source="Orphanet:329967", source="MONDO:equivalentTo"}
xref: MEDGEN:508453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329967 {source="MONDO:equivalentTo"}
xref: SCTID:711286009 {source="MONDO:equivalentTo"}
xref: UMLS:C0149910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508453"}
is_a: MONDO:0005554 {source="Orphanet:329967"} ! rheumatic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare

[Term]
id: MONDO:0018016
name: classic neuroendocrine tumor of appendix
def: "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated." [Orphanet:329977]
subset: gard_rare {source="GARD:21500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:329977"}
subset: rare
synonym: "classic appendiceal neuroendocrine tumor" EXACT [Orphanet:329977]
synonym: "classic appendiceal neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "classic appendix neuroendocrine tumor" EXACT [Orphanet:329977]
synonym: "classic appendix neuroendocrine tumour" EXACT OMO:0003005 []
xref: GARD:21500 {source="MONDO:GARD"}
xref: ICD10CM:D37.3 {source="Orphanet:329977", source="Orphanet:329977/ntbt"}
xref: MEDGEN:1843245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:329977 {source="MONDO:equivalentTo"}
xref: UMLS:C5679854 {source="MONDO:equivalentTo", source="MEDGEN:1843245", source="MONDO:MEDGEN"}
is_a: MONDO:0015066 {source="Orphanet:329977"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade

[Term]
id: MONDO:0018017
name: goblet cell carcinoma
def: "An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." [https://orcid.org/0000-0001-5208-3432, Orphanet:329984]
subset: gard_rare {source="GARD:10414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1931"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:329984"}
subset: rare
synonym: "appendix adenocarcinoid tumor" EXACT [NCIT:C3689]
synonym: "appendix adenocarcinoid tumour" EXACT OMO:0003005 []
synonym: "appendix goblet cell carcinoid" EXACT [MONDO:0006089]
synonym: "appendix goblet cell carcinoid tumor" EXACT [NCIT:C3689]
synonym: "appendix goblet cell carcinoid tumour" EXACT OMO:0003005 []
synonym: "appendix mixed carcinoid-adenocarcinoma" EXACT [NCIT:C3689]
synonym: "carcinoma of goblet cell" EXACT [MONDO:patterns/carcinoma]
synonym: "GCC" EXACT ABBREVIATION [Orphanet:329984]
synonym: "goblet cell adenocarcinoid" EXACT [Orphanet:329984]
synonym: "Goblet Cell Adenocarcinoma" EXACT [NORD:1931]
synonym: "goblet cell carcinoid" EXACT [Orphanet:329984]
synonym: "goblet cell carcinoid of appendix" EXACT []
synonym: "goblet cell carcinoid of the appendix" EXACT []
synonym: "goblet cell carcinoid tumor" EXACT [NCIT:C3689]
synonym: "goblet cell carcinoid tumour" EXACT OMO:0003005 []
synonym: "goblet cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "goblet cell tumor" EXACT [Orphanet:329984]
synonym: "goblet cell tumour" EXACT OMO:0003005 []
synonym: "mucinous carcinoid" RELATED [GARD:0010414]
synonym: "mucinous carcinoid tumor" EXACT [NCIT:C3689]
synonym: "mucinous carcinoid tumour" EXACT OMO:0003005 []
xref: GARD:10414 {source="MONDO:GARD"}
xref: ICD10CM:C18.1 {source="Orphanet:329984/ntbt", source="Orphanet:329984"}
xref: ICDO:8243/3 {source="NCIT:C3689"}
xref: MEDGEN:60007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3689 {source="MONDO:equivalentTo", source="EFO:1000090", source="MONDO:exact-label-match"}
xref: NORD:1931 {source="MONDO:NORD"}
xref: ONCOTREE:GCCAP {source="MONDO:equivalentTo"}
xref: Orphanet:329984 {source="MONDO:equivalentTo"}
xref: UMLS:C0205695 {source="MONDO:equivalentTo", source="MEDGEN:60007", source="MONDO:MEDGEN"}
is_a: MONDO:0015066 {source="Orphanet:329984"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
is_a: MONDO:0021659 {source="NCIT:C3689"} ! combined carcinoid and adenocarcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location CL:0000160 ! goblet cell
relationship: disease_has_location UBERON:0001154 ! vermiform appendix
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4635" xsd:anyURI

[Term]
id: MONDO:0018018
name: wild type ATTR amyloidosis
subset: gard_rare {source="GARD:21501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330001"}
subset: orphanet_rare {source="Orphanet:330001"}
subset: rare
synonym: "ATTRwt amyloidosis" EXACT [Orphanet:330001]
synonym: "ATTRwt-related amyloidosis" EXACT [Orphanet:330001]
synonym: "Senile systemic amyloidosis" EXACT [Orphanet:330001]
synonym: "SSA" EXACT ABBREVIATION [Orphanet:330001]
synonym: "wild type ATTR-related amyloidosis" EXACT [Orphanet:330001]
xref: DOID:0080937 {source="MONDO:equivalentTo"}
xref: GARD:21501 {source="MONDO:GARD"}
xref: ICD10CM:E85.8 {source="Orphanet:330001", source="Orphanet:330001/ntbt"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200212 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:330001 {source="MONDO:equivalentTo"}
xref: SCTID:237877004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342623 {source="MEDGEN:87446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016345 {source="Orphanet:330001"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0019065 {source="Orphanet:330001"} ! amyloidosis

[Term]
id: MONDO:0018019
name: lead poisoning
def: "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs." [Orphanet:330015]
subset: gard_rare {source="GARD:21503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330015"}
subset: orphanet_rare {source="Orphanet:330015"}
subset: rare
synonym: "Lead intoxication" EXACT [Orphanet:330015]
synonym: "plumbism" EXACT [Orphanet:330015]
synonym: "saturnism" EXACT [Orphanet:330015]
xref: GARD:21503 {source="MONDO:GARD"}
xref: ICD10CM:T56.0 {source="Orphanet:330015", source="Orphanet:330015/e"}
xref: ICD9:984.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:984.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D007855 {source="MONDO:equivalentTo"}
xref: Orphanet:330015 {source="MONDO:equivalentTo"}
xref: SCTID:38342005 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:330015"} ! poisoning
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0018020
name: mercury poisoning
def: "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." [Orphanet:330021]
subset: gard_rare {source="GARD:7021", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330021"}
subset: orphanet_rare {source="Orphanet:330021"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hydrargyria" EXACT [Orphanet:330021]
synonym: "mercurialism" EXACT [Orphanet:330021]
synonym: "Mercury intoxication" EXACT [Orphanet:330021]
synonym: "Mercury toxicity" RELATED [GARD:0007021]
xref: EFO:1001810 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7021 {source="MONDO:GARD"}
xref: ICD10CM:T56.1 {source="Orphanet:330021", source="Orphanet:330021/e"}
xref: ICD9:985.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D008630 {source="MONDO:equivalentTo"}
xref: Orphanet:330021 {source="MONDO:equivalentTo"}
xref: SCTID:85180002 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:330021"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:25195 ! mercury atom
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning" xsd:anyURI {source="GARD:0007021"}

[Term]
id: MONDO:0018021
name: hypotrichosis-deafness syndrome
subset: gard_rare {source="GARD:21504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330029"}
subset: orphanet_rare {source="Orphanet:330029"}
subset: rare
xref: GARD:21504 {source="MONDO:GARD"}
xref: ICD10CM:H90.5 {source="Orphanet:330029", source="Orphanet:330029/attributed", source="Orphanet:330029/ntbt"}
xref: MEDGEN:1679303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:330029 {source="MONDO:equivalentTo"}
xref: UMLS:C5190988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679303"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0017681 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete erythrokeratoderma variabilis progressiva
relationship: excluded_subClassOf MONDO:0019285 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic nail anomaly
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss
relationship: excluded_subClassOf MONDO:0021034 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary alopecia

[Term]
id: MONDO:0018022
name: hemoglobin Lepore-beta-thalassemia syndrome
subset: gard_rare {source="GARD:21505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330032"}
subset: orphanet_rare {source="Orphanet:330032"}
subset: rare
synonym: "HbLepore-beta-thalassemia syndrome" EXACT [Orphanet:330032]
synonym: "Lepore-beta-thalassemia syndrome" EXACT [Orphanet:330032]
xref: GARD:21505 {source="MONDO:GARD"}
xref: ICD10CM:D56.8 {source="Orphanet:330032", source="Orphanet:330032/attributed", source="Orphanet:330032/ntbt"}
xref: MEDGEN:1826060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:330032 {source="MONDO:equivalentTo"}
xref: UMLS:C5679855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826060"}
is_a: MONDO:0017145 {source="Orphanet:330032"} ! beta-thalassemia and related diseases

[Term]
id: MONDO:0018023
name: hemoglobin M disease
subset: gard_rare {source="GARD:13007", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330041"}
subset: orphanet_rare {source="Orphanet:330041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant methemoglobinemia" RELATED [GARD:0013007]
synonym: "blue baby syndrome" RELATED [GARD:0013007]
synonym: "hereditary methemoglobinemia due to haemoglobin mutation" RELATED OMO:0003005 []
synonym: "hereditary methemoglobinemia due to hemoglobin mutation" RELATED [GARD:0013007]
synonym: "M hemoglobinopathy" EXACT [Orphanet:330041]
synonym: "methemoglobinemia, beta type" EXACT [OMIM:617971, OMIM:genemap2]
synonym: "methemoglobinemia, beta-globin type" RELATED [GARD:0013007]
xref: GARD:13007 {source="MONDO:GARD"}
xref: ICD10CM:D74.0 {source="Orphanet:330041/attributed", source="Orphanet:330041/ntbt", source="Orphanet:330041"}
xref: MEDGEN:777099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C581942 {source="MONDO:equivalentTo"}
xref: OMIM:617971 {source="MONDO:equivalentTo"}
xref: Orphanet:330041 {source="MONDO:equivalentTo", source="OMIM:617971"}
xref: SCTID:74912001 {source="MONDO:equivalentTo"}
xref: UMLS:C3665425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777099"}
is_a: MONDO:0002280 {source="Orphanet:330041", source="Orphanet:330041/inferred"} ! anemia
is_a: MONDO:0018963 {source="https://github.com/monarch-initiative/mondo/issues/1612", source="https://medlineplus.gov/ency/article/000562.htm"} ! hereditary methemoglobinemia
relationship: excluded_subClassOf MONDO:0019050 {source="Orphanet:330041", source="Orphanet:330041/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! inherited hemoglobinopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0018024
name: hydroa vacciniforme
def: "A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas." [NCIT:C84766]
subset: gard_rare {source="GARD:9654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330058"}
subset: orphanet_rare {source="Orphanet:330058"}
subset: rare
synonym: "hV" RELATED [GARD:0009654]
xref: GARD:9654 {source="MONDO:GARD"}
xref: ICD10CM:L56.4 {source="Orphanet:330058/ntbt", source="Orphanet:330058"}
xref: MEDGEN:5661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006837 {source="MONDO:equivalentTo"}
xref: NCIT:C84766 {source="MONDO:equivalentTo"}
xref: Orphanet:330058 {source="MONDO:equivalentTo"}
xref: SCTID:200837006 {source="MONDO:equivalentTo"}
xref: UMLS:C0020241 {source="MEDGEN:5661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="NCIT:C84766"} ! dermatitis
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme" xsd:anyURI {source="GARD:0009654"}

[Term]
id: MONDO:0018025
name: chronic actinic dermatitis
subset: gard_rare {source="GARD:21506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:330064"}
subset: orphanet_rare {source="Orphanet:330064"}
subset: rare
synonym: "actinic reticuloid" EXACT [Orphanet:330064]
synonym: "chronic photosensitivity dermatitis" EXACT [Orphanet:330064]
xref: GARD:21506 {source="MONDO:GARD"}
xref: ICD10CM:L57.8 {source="Orphanet:330064", source="Orphanet:330064/ntbt"}
xref: icd11.foundation:248339081 {source="Orphanet:330064", source="MONDO:equivalentTo"}
xref: ICD9:692.73 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:76406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:330064 {source="MONDO:equivalentTo"}
xref: SCTID:52636001 {source="MONDO:equivalentTo"}
xref: UMLS:C0282309 {source="MEDGEN:76406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder
relationship: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0018026
name: tetraploidy syndrome
def: "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages." [MESH:D057891]
subset: gard_rare {source="GARD:5151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3305"}
subset: ordo_malformation_syndrome {source="Orphanet:3305"}
subset: orphanet_rare {source="Orphanet:3305"}
subset: rare
synonym: "tetraploidy" EXACT []
xref: GARD:5151 {source="MONDO:GARD"}
xref: ICD10CM:Q92.7 {source="Orphanet:3305", source="Orphanet:3305/attributed", source="Orphanet:3305/ntbt"}
xref: icd11.foundation:1705084192 {source="MONDO:equivalentTo", source="Orphanet:3305", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:163193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057891 {source="MONDO:equivalentTo", source="Orphanet:3305", source="Orphanet:3305/e"}
xref: Orphanet:3305 {source="MONDO:equivalentTo"}
xref: SCTID:726363000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795884 {source="MEDGEN:163193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019934 {source="MESH:D057891", source="Orphanet:3305"} ! polyploidy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5151/tetraploidy" xsd:anyURI {source="GARD:0005151"}

[Term]
id: MONDO:0018027
name: duplication/inversion 15q11
def: "Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person." [GARD:0005153]
subset: gard_rare {source="GARD:5153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3306"}
subset: ordo_malformation_syndrome {source="Orphanet:3306"}
subset: orphanet_rare {source="Orphanet:3306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 15q tetrasomy" RELATED [GARD:0005153]
synonym: "duplication/inversion 15q11" EXACT [GARD:0005153]
synonym: "Duplication/inversion type 15q11" EXACT [MONDORULE:7, Orphanet:3306]
synonym: "idic(15)" EXACT [Orphanet:3306]
synonym: "Inv dup(15)" EXACT [Orphanet:3306]
synonym: "Invdup(15)" EXACT [Orphanet:3306]
synonym: "inverted duplication 15" RELATED [GARD:0005153]
synonym: "Isodicentric 15 chromosome" EXACT [Orphanet:3306]
synonym: "Isodicentric chromosome 15 syndrome" RELATED [GARD:0005153]
synonym: "non-distal tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306]
synonym: "non-telomeric tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306]
synonym: "tetrasomy 15q" RELATED [GARD:0005153]
xref: GARD:5153 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:3306", source="Orphanet:3306/attributed", source="Orphanet:3306/ntbt"}
xref: MEDGEN:777984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580205 {source="MONDO:equivalentTo"}
xref: Orphanet:3306 {source="MONDO:equivalentTo", source="GARD:0005153"}
xref: SCTID:723332005 {source="MONDO:equivalentTo"}
xref: UMLS:C3711376 {source="MEDGEN:777984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 {source="https://orcid.org/0000-0001-5208-3432"} ! chromosomal disorder
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015955"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5153/isodicentric-chromosome-15-syndrome" xsd:anyURI {source="GARD:0005153"}

[Term]
id: MONDO:0018028
name: tetrasomy 5p
def: "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." [Orphanet:3309]
subset: gard_rare {source="GARD:18792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3309"}
subset: ordo_malformation_syndrome {source="Orphanet:3309"}
subset: orphanet_rare {source="Orphanet:3309"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Isochromosome 5p" EXACT [Orphanet:3309]
synonym: "tetrasomy type 5p" EXACT [MONDORULE:4, Orphanet:3309]
xref: GARD:18792 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:3309", source="Orphanet:3309/attributed", source="Orphanet:3309/ntbt"}
xref: MEDGEN:1638801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3309 {source="MONDO:equivalentTo"}
xref: SCTID:766755003 {source="MONDO:equivalentTo"}
xref: UMLS:C0795813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638801"}
is_a: MONDO:0016942 {source="Orphanet:3309", source="Orphanet:3309/inferred"} ! partial trisomy/tetrasomy of the short arm of chromosome 5
relationship: disease_arises_from_structure CHR:9606-chr5p {source="https://orcid.org/0000-0002-4142-7153"} ! 5p (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3309", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0018029
name: congenital factor XIII deficiency
def: "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." [Orphanet:331]
subset: gard_rare {source="GARD:10766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:331"}
subset: orphanet_rare {source="Orphanet:331"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency, Laki-Lorand factor" EXACT [DOID:2211]
synonym: "factor XIII deficiency" RELATED [DOID:2211]
synonym: "factor XIII deficiency disease" EXACT [DOID:2211]
synonym: "fibrin stabilising factor deficiency" RELATED OMO:0003005 []
synonym: "fibrin stabilizing factor deficiency" RELATED [GARD:0010766]
synonym: "fibrin-stabilizing factor deficiency" BROAD [Orphanet:331]
synonym: "hereditary factor XIII deficiency disease" EXACT [DOID:2211]
xref: DOID:2211 {source="MONDO:equivalentTo"}
xref: GARD:10766 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:331/attributed", source="Orphanet:331/ntbt", source="Orphanet:331"}
xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005177 {source="DOID:2211"}
xref: NANDO:2200681 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131633 {source="MONDO:equivalentTo"}
xref: NCIT:C98941 {source="DOID:2211"}
xref: Orphanet:331 {source="MONDO:equivalentTo"}
xref: SCTID:18604004 {source="DOID:2211"}
xref: SCTID:50189006 {source="DOID:2211", source="MONDO:equivalentTo"}
xref: UMLS:C0015530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4639"}
is_a: MONDO:0002241 {source="https://orcid.org/0000-0002-6601-2165"} ! factor XIII deficiency
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 {source="MESH:D005177"} ! hemorrhagic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0018030
name: tetrasomy 9p
def: "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)." [Orphanet:3310]
subset: gard_rare {source="GARD:42", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:964"}
subset: ordo_disorder {source="Orphanet:3310"}
subset: ordo_malformation_syndrome {source="Orphanet:3310"}
subset: orphanet_rare {source="Orphanet:3310"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chromosome 9, Tetrasomy 9p" EXACT [NORD:964]
synonym: "chromosome 9p tetrasomy" RELATED [GARD:0000042]
synonym: "Isochromosome 9p" EXACT [Orphanet:3310]
synonym: "Mosaic tetrasomy 9p" RELATED [GARD:0000042]
synonym: "tetrasomy of short arm of chromosome 9" RELATED [GARD:0000042]
synonym: "tetrasomy type 9p" EXACT [MONDORULE:4, Orphanet:3310]
xref: GARD:42 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:3310", source="Orphanet:3310/attributed", source="Orphanet:3310/ntbt"}
xref: MEDGEN:162876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538027 {source="Orphanet:3310", source="MONDO:equivalentTo", source="Orphanet:3310/e"}
xref: NORD:964 {source="MONDO:NORD"}
xref: Orphanet:3310 {source="MONDO:equivalentTo"}
xref: SCTID:715530004 {source="MONDO:equivalentTo"}
xref: UMLS:C0795832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162876"}
is_a: MONDO:0700043 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
relationship: disease_arises_from_structure CHR:9606-chr9p {source="https://orcid.org/0000-0002-4142-7153"} ! 9p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p" xsd:anyURI {source="GARD:0000042"}

[Term]
id: MONDO:0018031
name: granulomatous slack skin disease
def: "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin." [Orphanet:33111]
subset: gard_rare {source="GARD:10986", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33111"}
subset: orphanet_rare {source="Orphanet:33111"}
subset: rare
synonym: "granulomatous slack skin" EXACT []
xref: GARD:10986 {source="MONDO:GARD"}
xref: ICD10CM:C84.0 {source="Orphanet:33111/ntbt", source="Orphanet:33111", source="MONDO:directSiblingOf"}
xref: MEDGEN:99139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35464 {source="MONDO:equivalentTo"}
xref: Orphanet:33111 {source="MONDO:equivalentTo"}
xref: SCTID:277796003 {source="MONDO:equivalentTo"}
xref: UMLS:C0457002 {source="MEDGEN:99139", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015821 {source="Orphanet:33111"} ! mycosis fungoides and variants
is_a: MONDO:0045071 {source="NCIT:C35464"} ! mycosis fungoides variant

[Term]
id: MONDO:0018032
name: obsolete constitutional neutropenia with extra-hematopoietic manifestations
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:331184"}
xref: GARD:21508 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:331184 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0018033
name: obsolete other immunodeficiency syndromes due to defects in innate immunity
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:331193"}
xref: GARD:21509 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:331193 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018034
name: thalidomide embryopathy
def: "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." [Orphanet:3312]
subset: gard_rare {source="GARD:2313", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3312"}
subset: orphanet_rare {source="Orphanet:3312"}
subset: rare
synonym: "fetal thalidomide syndrome" EXACT [Orphanet:3312]
synonym: "foetal thalidomide syndrome" EXACT OMO:0003005 []
synonym: "thalidomide embryopathy syndrome" EXACT [NCIT:C99082]
synonym: "thalidomide-induced birth defect" EXACT [NCIT:C99082]
xref: GARD:2313 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:3312", source="Orphanet:3312/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071249 {source="Orphanet:3312", source="Orphanet:3312/e"}
xref: MEDGEN:98490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99082 {source="MONDO:equivalentTo"}
xref: Orphanet:3312 {source="MONDO:equivalentTo"}
xref: SCTID:36193003 {source="MONDO:equivalentTo"}
xref: UMLS:C0432365 {source="MEDGEN:98490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99082"} ! syndromic disease
is_a: MONDO:0016677 {source="Orphanet:3312"} ! toxic or drug-related embryofetopathy
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation

[Term]
id: MONDO:0018035
name: obsolete syndrome with combined immunodeficiency
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:331217"}
xref: GARD:21510 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:2100203 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:331217 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0018036
name: obsolete immunodeficiency due to absence of thymus
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease'
subset: ordo_group_of_disorders {source="Orphanet:331220"}
xref: GARD:21511 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D81.4 {source="Orphanet:331220", source="Orphanet:331220/attributed", source="Orphanet:331220/ntbt"}
xref: Orphanet:331220 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003778

[Term]
id: MONDO:0018037
name: hyper-IgE syndrome
def: "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." [NCIT:C3144]
subset: disease_grouping
subset: gard_rare {source="GARD:10956", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:331223"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HIES" EXACT ABBREVIATION [GARD:0010956]
synonym: "hyper-IgE recurrent infection syndrome" EXACT [GARD:0010956]
synonym: "hyperimmunoglobulin E syndrome" EXACT [GARD:0010956, NCIT:C3144]
xref: DOID:0080545 {source="MONDO:equivalentTo"}
xref: GARD:10956 {source="MONDO:GARD"}
xref: ICD10CM:D82.4 {source="Orphanet:331223", source="Orphanet:331223/specific", source="Orphanet:331223/e"}
xref: icd11.foundation:223461798 {source="Orphanet:331223", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:854488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200340 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200713 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3144 {source="MONDO:equivalentTo"}
xref: OMIMPS:147060 {source="MONDO:equivalentTo"}
xref: Orphanet:331223 {source="MONDO:equivalentTo"}
xref: UMLS:C3887645 {source="MEDGEN:854488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002468 {source="NCIT:C3144"} ! hyperimmunoglobulin syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:147060"} ! inherited

[Term]
id: MONDO:0018038
name: obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:331232"}
xref: GARD:21512 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:331232 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0018039
name: selective IgM deficiency
def: "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement." [https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency]
subset: gard_rare {source="GARD:12547", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:331235"}
subset: orphanet_rare {source="Orphanet:331235"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "selective IgM deficiency disease" EXACT [MONDO:0000289]
synonym: "selective immunoglobulin M deficiency" EXACT [Orphanet:331235]
synonym: "SIgMD" RELATED [GARD:0012547]
xref: DOID:0050222 {source="MONDO:equivalentTo"}
xref: GARD:12547 {source="MONDO:GARD"}
xref: ICD10CM:D80.4 {source="Orphanet:331235", source="Orphanet:331235/e", source="Orphanet:331235/specific"}
xref: ICD9:279.02 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:331235 {source="MONDO:equivalentTo"}
xref: SCTID:190980000 {source="MONDO:equivalentTo"}
xref: UMLS:C0154275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57820"}
is_a: MONDO:0001342 {source="DOID:0050222"} ! dysgammaglobulinemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency" xsd:anyURI {source="GARD:0012547"}

[Term]
id: MONDO:0018040
name: obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
comment: This is a grouping class from Orphanet that only had a single child, and was undefined.
subset: ordo_group_of_disorders {source="Orphanet:331240"}
xref: GARD:21513 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:769068598 {source="MONDO:obsoleteEquivalent", source="Orphanet:331240", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:331240 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1667" xsd:anyURI
is_obsolete: true
consider: MONDO:0003947

[Term]
id: MONDO:0018041
name: obsolete other immunodeficiency syndrome with predominantly antibody defects
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:331244"}
xref: GARD:21514 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D80.8 {source="Orphanet:331244", source="Orphanet:331244/e", source="Orphanet:331244/specific"}
xref: Orphanet:331244 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018042
name: obsolete immunodeficiency syndrome with abnormal pigmentation
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency disease'
subset: ordo_group_of_disorders {source="Orphanet:331249"}
synonym: "immunodeficiency syndrome with hypopigmentation" RELATED [Orphanet:331249]
xref: GARD:21515 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:2015243510 {source="MONDO:obsoleteEquivalent", source="Orphanet:331249", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:331249 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021094

[Term]
id: MONDO:0018043
name: Thomas syndrome
def: "Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." [Orphanet:3316]
subset: gard_rare {source="GARD:5175", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3316"}
subset: ordo_malformation_syndrome {source="Orphanet:3316"}
subset: orphanet_rare {source="Orphanet:3316"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Potter sequence-cleft lip/palate-cardiopathy syndrome" EXACT [Orphanet:3316]
xref: GARD:5175 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3316", source="Orphanet:3316/attributed", source="Orphanet:3316/ntbt"}
xref: MEDGEN:419362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536514 {source="MONDO:equivalentTo", source="Orphanet:3316", source="Orphanet:3316/e"}
xref: Orphanet:3316 {source="MONDO:equivalentTo"}
xref: SCTID:716740009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419362"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015161 {source="Orphanet:3316"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0018044
name: idiopathic hypersomnia
def: "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time." [Orphanet:33208]
subset: gard_rare {source="GARD:8737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33208"}
subset: orphanet_rare {source="Orphanet:33208"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic hypersomnolence" RELATED [GARD:0008737]
synonym: "primary hypersomnia" EXACT [Orphanet:33208]
xref: GARD:8737 {source="MONDO:GARD"}
xref: ICD10CM:F51.1 {source="Orphanet:33208", source="Orphanet:33208/e"}
xref: icd11.foundation:631826564 {source="MONDO:equivalentTo", source="Orphanet:33208"}
xref: MEDGEN:155626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020177 {source="MONDO:equivalentTo"}
xref: NCIT:C116343 {source="MONDO:equivalentTo"}
xref: Orphanet:33208 {source="MONDO:equivalentTo"}
xref: SCTID:3731000119107 {source="MONDO:equivalentTo"}
xref: UMLS:C0751757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155626"}
is_a: MONDO:0003406 {source="Orphanet:33208"} ! sleep-wake disorder
is_a: MONDO:0005466 {source="NCIT:C116343"} ! hypersomnia
intersection_of: MONDO:0005466 ! hypersomnia
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia" xsd:anyURI {source="GARD:0008737"}

[Term]
id: MONDO:0018045
name: Hoyeraal-Hreidarsson syndrome
def: "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." [Orphanet:3322]
subset: gard_rare {source="GARD:346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3322"}
subset: orphanet_rare {source="Orphanet:3322"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia" RELATED [GARD:0000346]
synonym: "Hoyeraal Hreidarsson syndrome" RELATED [GARD:0000346]
synonym: "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome" EXACT [Orphanet:3322]
xref: GARD:346 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:3322/attributed", source="Orphanet:3322/ntbt", source="Orphanet:3322"}
xref: MEDGEN:337518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536068 {source="Orphanet:3322", source="MONDO:equivalentTo", source="Orphanet:3322/e"}
xref: Orphanet:3322 {source="MONDO:equivalentTo"}
xref: SCTID:707276009 {source="MONDO:equivalentTo"}
xref: UMLS:C1846142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337518"}
is_a: MONDO:0010584 ! dyskeratosis congenita, X-linked
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic HP:0001417 ! X-linked inheritance

[Term]
id: MONDO:0018046
name: thrombocytopenia-Robin sequence syndrome
subset: ordo_malformation_syndrome {source="Orphanet:3323"}
synonym: "Braddock Carey syndrome" RELATED [GARD:0005193]
synonym: "congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay" RELATED [GARD:0005193]
synonym: "thrombocytopenia Robin sequence" RELATED [GARD:0005193]
xref: MEDGEN:419058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536898 {source="Orphanet:3323", source="MONDO:equivalentTo", source="Orphanet:3323/e"}
xref: Orphanet:3323 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2931364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419058"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0018047
name: familial thrombomodulin anomalies
subset: gard_rare {source="GARD:5195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3324"}
subset: orphanet_rare {source="Orphanet:3324"}
subset: rare
synonym: "thrombomodulin anomalies, familial" RELATED [GARD:0005195]
xref: GARD:5195 {source="MONDO:GARD"}
xref: HGNC:11784 {source="GARD:0005195"}
xref: ICD10CM:D68.8 {source="Orphanet:3324/attributed", source="Orphanet:3324/ntbt", source="Orphanet:3324"}
xref: MEDGEN:419059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536900 {source="Orphanet:3324", source="MONDO:equivalentTo", source="Orphanet:3324/e"}
xref: Orphanet:3324 {source="MONDO:equivalentTo"}
xref: UMLS:C2931365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419059"}
is_a: MONDO:0021181 {source="MONDO:0016633-obsoleted"} ! inherited blood coagulation disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial" xsd:anyURI {source="GARD:0005195"}

[Term]
id: MONDO:0018048
name: heparin-induced thrombocytopenia
def: "Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis." [Orphanet:3325]
subset: gard_rare {source="GARD:2650", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3325"}
subset: orphanet_rare {source="Orphanet:3325"}
subset: rare
synonym: "HAT" EXACT ABBREVIATION [Orphanet:3325]
synonym: "heparin-associated thrombocytopenia" EXACT [Orphanet:3325]
synonym: "heparin-induced thrombocytopenia" EXACT [MONDO:ambiguous]
synonym: "heparin-induced thrombocytopenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "heparin-induced thrombocytopenia type 2" EXACT [Orphanet:3325]
synonym: "HIT" EXACT ABBREVIATION [Orphanet:3325]
xref: GARD:2650 {source="MONDO:GARD"}
xref: HP:0011874 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D69.5 {source="Orphanet:3325/ntbt", source="Orphanet:3325"}
xref: ICD9:289.84 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10062506 {source="Orphanet:3325", source="Orphanet:3325/e"}
xref: MEDGEN:124423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200648 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:3325 {source="MONDO:equivalentTo"}
xref: SCTID:73397007 {source="MONDO:equivalentTo"}
xref: UMLS:C0272285 {source="MEDGEN:124423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000831 {source="Orphanet:3325"} ! thrombotic disease
property_value: IAO:0000589 "heparin-induced thrombocytopenia (disease)" xsd:string

[Term]
id: MONDO:0018049
name: obsolete Kaposi sarcoma
is_obsolete: true
replaced_by: MONDO:0005055

[Term]
id: MONDO:0018050
name: tibial aplasia-ectrodactyly syndrome
def: "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." [Orphanet:3329]
subset: gard_rare {source="GARD:1369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3329"}
subset: ordo_malformation_syndrome {source="Orphanet:3329"}
subset: orphanet_rare {source="Orphanet:3329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aplasia of tibia with ectrodactyly" RELATED [GARD:0001369]
synonym: "aplasia of tibia with split-hand/split-foot deformity" EXACT [Orphanet:3329]
synonym: "ectrodactyly with aplasia of long bones" RELATED [GARD:0001369]
synonym: "SHFLD" RELATED ABBREVIATION [GARD:0001369]
synonym: "SHFLD syndrome" EXACT [Orphanet:3329]
synonym: "SHFM associated with aplasia of long bones" EXACT [Orphanet:3329]
synonym: "split hand/foot malformation with long bone deficiency" EXACT [Orphanet:3329]
synonym: "split-hand/foot malformation associated with aplasia of long bones" EXACT [Orphanet:3329]
synonym: "split-hand/foot malformation with long bone deficiency" RELATED [GARD:0001369]
synonym: "TH-SHFM" EXACT [Orphanet:3329]
synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [GARD:0001369]
synonym: "tibial hemimelia with split hand/foot malformation" EXACT [Orphanet:3329]
synonym: "tibial hemimelia-ectrodactyly syndrome" EXACT [Orphanet:3329]
xref: GARD:1369 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:3329", source="Orphanet:3329/attributed", source="Orphanet:3329/ntbt"}
xref: MEDGEN:1639878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3329 {source="MONDO:equivalentTo", source="GARD:0001369"}
xref: UMLS:C4551989 {source="MEDGEN:1639878", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia" xsd:anyURI {source="GARD:0001369"}

[Term]
id: MONDO:0018051
name: Jessner lymphocytic infiltration of the skin
def: "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." [Orphanet:33314]
subset: gard_rare {source="GARD:6940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1384"}
subset: ordo_disorder {source="Orphanet:33314"}
subset: orphanet_rare {source="Orphanet:33314"}
subset: rare
synonym: "benign chronic T-cell infiltrative disorder" RELATED [GARD:0006940]
synonym: "benign lymphocytic infiltration" RELATED [GARD:0006940]
synonym: "Jessner disease" RELATED [GARD:0006940]
synonym: "Jessner-Kanof lymphocytic infiltration of the skin" EXACT [Orphanet:33314]
synonym: "Jessner-Kanof syndrome" RELATED [GARD:0006940]
synonym: "Lymphocytic Infiltrate of Jessner" EXACT [NORD:1384]
synonym: "lymphocytic infiltrate of Jessner" RELATED [GARD:0006940]
xref: GARD:6940 {source="MONDO:GARD"}
xref: ICD10CM:L98.6 {source="Orphanet:33314/ntbt", source="Orphanet:33314"}
xref: icd11.foundation:1624135677 {source="Orphanet:33314", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:663150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1384 {source="MONDO:NORD"}
xref: Orphanet:33314 {source="GARD:0006940", source="MONDO:equivalentTo"}
xref: UMLS:C0580181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:663150"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner" xsd:anyURI {source="GARD:0006940"}

[Term]
id: MONDO:0018052
name: obsolete hypoplastic tibiae-postaxial polydactyly syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5501" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008572

[Term]
id: MONDO:0018053
name: trichothiodystrophy
def: "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins)." [Orphanet:33364]
subset: gard_rare {source="GARD:12109", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1292", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33364"}
subset: orphanet_rare {source="Orphanet:33364"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "trichothiodystrophy syndrome" EXACT [NCIT:C4924]
xref: DOID:0111866 {source="MONDO:equivalentTo"}
xref: GARD:12109 {source="MONDO:GARD"}
xref: ICD10CM:L67.8 {source="Orphanet:33364/attributed", source="Orphanet:33364/ntbt", source="Orphanet:33364"}
xref: MedDRA:10044628 {source="Orphanet:33364/e", source="Orphanet:33364"}
xref: MEDGEN:363064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536559 {source="Orphanet:33364/e", source="Orphanet:33364"}
xref: MESH:D054463 {source="Orphanet:33364/e", source="Orphanet:33364"}
xref: NANDO:1200627 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4924 {source="MONDO:equivalentTo"}
xref: NORD:1292 {source="MONDO:NORD"}
xref: OMIMPS:601675 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:33364 {source="MONDO:equivalentTo"}
xref: SCTID:723551003 {source="MONDO:equivalentTo"}
xref: UMLS:C1955934 {source="MEDGEN:363064", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C4924"} ! syndromic disease
is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C4924", source="Orphanet:33364/inferred"} ! hereditary disease
is_a: MONDO:0019287 {source="Orphanet:33364"} ! ectodermal dysplasia syndrome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601675"} ! inherited

[Term]
id: MONDO:0018054
name: familial atrial fibrillation
def: "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." [http://en.wikipedia.org/wiki/Familial_atrial_fibrillation]
comment: Editor note: DO def states this as being in ATFB but this is not correct
subset: gard_rare {source="GARD:9740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:334"}
subset: orphanet_rare {source="Orphanet:334"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATFB" EXACT ABBREVIATION [DOID:0050650]
synonym: "atrial fibrillation autosomal dominant" RELATED [GARD:0009740]
synonym: "atrial fibrillation, familial" RELATED [GARD:0009740, OMIMPS:608583]
synonym: "autosomal dominant atrial fibrillation" RELATED [GARD:0009740]
synonym: "hereditary atrial fibrillation (disease)" EXACT [MONDO:patterns/hereditary]
xref: DOID:0050650 {source="MONDO:equivalentTo"}
xref: GARD:9740 {source="MONDO:GARD"}
xref: ICD10CM:I48.9 {source="Orphanet:334", source="Orphanet:334/attributed", source="Orphanet:334/ntbt"}
xref: MEDGEN:894635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:608583 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:334 {source="DOID:0050650", source="MONDO:equivalentTo"}
xref: SCTID:715395008 {source="MONDO:equivalentTo"}
xref: UMLS:C3468561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894635"}
is_a: MONDO:0004981 {source="DOID:0050650", source="MONDO:DOID", source="MONDO:Redundant"} ! atrial fibrillation
intersection_of: MONDO:0004981 ! atrial fibrillation
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608583"} ! inherited

[Term]
id: MONDO:0018055
name: pediatric hepatocellular carcinoma
def: "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age." [Orphanet:33402]
subset: gard_rare {source="GARD:9331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33402"}
subset: orphanet_rare {source="Orphanet:33402"}
subset: rare
synonym: "childhood carcinoma of liver cell" RELATED [GARD:0009331]
synonym: "childhood carcinoma of the liver cell" EXACT [NCIT:C7955]
synonym: "childhood hepatocellular carcinoma" EXACT [DOID:0070322, GARD:0009331]
synonym: "childhood hepatoma" RELATED [GARD:0009331]
synonym: "childhood liver cell carcinoma" RELATED [GARD:0009331]
synonym: "childhood-onset HCC" EXACT [Orphanet:33402]
synonym: "childhood-onset hepatocellular carcinoma" EXACT [Orphanet:33402]
synonym: "hepatocellular cancer" BROAD [NCIT:C7955]
synonym: "paediatric carcinoma of liver cell" RELATED OMO:0003005 []
synonym: "Paediatric carcinoma of the liver cell" EXACT OMO:0003005 []
synonym: "paediatric HCC" EXACT OMO:0003005 []
synonym: "paediatric hepatoma" RELATED OMO:0003005 []
synonym: "paediatric liver cell carcinoma" RELATED OMO:0003005 []
synonym: "pediatric carcinoma of liver cell" RELATED [GARD:0009331]
synonym: "Pediatric carcinoma of the liver cell" EXACT [NCIT:C7955]
synonym: "pediatric HCC" EXACT [Orphanet:33402]
synonym: "pediatric hepatoma" RELATED [GARD:0009331]
synonym: "pediatric liver cell carcinoma" RELATED [GARD:0009331]
xref: DOID:0070322 {source="MONDO:equivalentTo"}
xref: GARD:9331 {source="MONDO:GARD"}
xref: ICD10CM:C22.0 {source="Orphanet:33402/ntbt", source="Orphanet:33402"}
xref: MEDGEN:75999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7955 {source="DOID:0070322", source="MONDO:equivalentTo"}
xref: Orphanet:33402 {source="DOID:0070322", source="MONDO:equivalentTo"}
xref: UMLS:C0279606 {source="MEDGEN:75999", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007256 {source="DOID:0070322", source="NCIT:C7955", source="Orphanet:33402"} ! hepatocellular carcinoma
intersection_of: MONDO:0007256 ! hepatocellular carcinoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0018056
name: bullous lichen planus
def: "Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions." [Orphanet:33408]
subset: gard_rare {source="GARD:18808", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33408"}
subset: orphanet_rare {source="Orphanet:33408"}
subset: rare
xref: GARD:18808 {source="MONDO:GARD"}
xref: ICD10CM:L43.1 {source="MONDO:equivalentTo", source="Orphanet:33408", source="Orphanet:33408/e"}
xref: MedDRA:10056960 {source="Orphanet:33408", source="Orphanet:33408/e"}
xref: MEDGEN:9755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34778 {source="MONDO:equivalentTo"}
xref: Orphanet:33408 {source="MONDO:equivalentTo"}
xref: SCTID:6111009 {source="MONDO:equivalentTo"}
xref: UMLS:C0023648 {source="MEDGEN:9755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006572 {source="ICD10CM:L43.1", source="MONDO:Redundant", source="NCIT:C34778"} ! lichen planus

[Term]
id: MONDO:0018057
name: obsolete toxocariasis
is_obsolete: true
replaced_by: MONDO:0005988

[Term]
id: MONDO:0018058
name: tracheal agenesis
def: "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking." [Orphanet:3346]
subset: gard_rare {source="GARD:5233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3346"}
subset: ordo_morphological_anomaly {source="Orphanet:3346"}
subset: orphanet_rare {source="Orphanet:3346"}
subset: rare
synonym: "congenital absence of trachea" EXACT [NCIT:C35376]
synonym: "congenital tracheal agenesis" RELATED [GARD:0005233]
synonym: "tracheal absence" EXACT [NCIT:C35376]
xref: GARD:5233 {source="MONDO:GARD"}
xref: ICD10CM:Q32.1 {source="Orphanet:3346/ntbt", source="Orphanet:3346"}
xref: MEDGEN:266059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536975 {source="Orphanet:3346", source="MONDO:equivalentTo", source="Orphanet:3346/e"}
xref: NCIT:C35376 {source="MONDO:equivalentTo"}
xref: Orphanet:3346 {source="MONDO:equivalentTo"}
xref: SCTID:3987009 {source="MONDO:equivalentTo"}
xref: UMLS:C1261567 {source="MEDGEN:266059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis" xsd:anyURI {source="GARD:0005233"}

[Term]
id: MONDO:0018059
name: meningococcal meningitis
def: "An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability." [Orphanet:33475]
subset: gard_rare {source="GARD:18809", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1438"}
subset: ordo_disorder {source="Orphanet:33475"}
subset: orphanet_rare {source="Orphanet:33475"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080176 {source="MONDO:equivalentTo"}
xref: EFO:1001040 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18809 {source="MONDO:GARD"}
xref: ICD10CM:A39.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="EFO:1001040"}
xref: ICD10EXP:A39.0+ {source="Orphanet:33475/e", source="Orphanet:33475"}
xref: ICD10EXP:G01* {source="Orphanet:33475/e", source="Orphanet:33475"}
xref: icd11.foundation:516585689 {source="MONDO:equivalentTo", source="Orphanet:33475"}
xref: ICD9:036.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001040"}
xref: MedDRA:10027249 {source="Orphanet:33475/e", source="Orphanet:33475"}
xref: MedDRA:10027276 {source="EFO:1001040"}
xref: MEDGEN:6299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008585 {source="DOID:0080176", source="Orphanet:33475/e", source="MONDO:equivalentTo", source="EFO:1001040", source="Orphanet:33475"}
xref: NORD:1438 {source="MONDO:NORD"}
xref: Orphanet:33475 {source="MONDO:equivalentTo"}
xref: SCTID:192644005 {source="MONDO:equivalentTo", source="EFO:1001040"}
xref: UMLS:C0025294 {source="MEDGEN:6299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005373 {source="ICD10CM:A39.0", source="https://orcid.org/0000-0001-5208-3432"} ! meningococcal infection
is_a: MONDO:0006670 {source="DOID:0080176", source="MESH:D008585"} ! bacterial meningitis
is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:33475"} ! infectious disorder of the nervous system

[Term]
id: MONDO:0018060
name: congenital fibrinogen deficiency
def: "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." [Orphanet:335]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:335"}
subset: orphanet_rare {source="Orphanet:335"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital fibrinogen deficiency" EXACT CLINGEN_LABEL []
synonym: "fibrinogen deficiency, congenital" RELATED [GARD:0002320]
xref: GARD:2320 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:335", source="Orphanet:335/attributed", source="Orphanet:335/ntbt"}
xref: icd11.foundation:1452989457 {source="Orphanet:335", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:412157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:335 {source="MONDO:equivalentTo"}
xref: UMLS:C2062367 {source="MEDGEN:412157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital" xsd:anyURI {source="GARD:0002320"}

[Term]
id: MONDO:0018061
name: trichodermodysplasia-dental alterations syndrome
def: "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986." [Orphanet:3353]
subset: gard_rare {source="GARD:4369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3353"}
subset: ordo_malformation_syndrome {source="Orphanet:3353"}
subset: orphanet_rare {source="Orphanet:3353"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pinheiro Freire-Maia Miranda syndrome" RELATED [GARD:0004369]
synonym: "Pinheiro-Freire Maia-Miranda syndrome" EXACT [Orphanet:3353]
synonym: "Trichodermodysplasia with dental alterations" RELATED [GARD:0004369]
xref: GARD:4369 {source="MONDO:GARD"}
xref: MEDGEN:419092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537402 {source="MONDO:equivalentTo"}
xref: Orphanet:3353 {source="MONDO:equivalentTo"}
xref: UMLS:C2931485 {source="MEDGEN:419092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C537402", source="Orphanet:3353"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0018062
name: autosomal dominant trichoodontoonychodysplasia-syndactyly
subset: gard_rare {source="GARD:5376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:3357"}
subset: rare
synonym: "ectodermal dysplasia with corkscrew hairs" RELATED [GARD:0005376]
synonym: "Tricho-odonto-onychodysplasia with syndactyly" RELATED [GARD:0005376]
synonym: "Trueb Burg Bottani syndrome" RELATED [GARD:0005376]
synonym: "Trueb-Burg-Bottani syndrome" EXACT [Orphanet:3357]
xref: GARD:5376 {source="MONDO:GARD"}
xref: MEDGEN:419366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536565 {source="MONDO:equivalentTo"}
xref: Orphanet:3357 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2931239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419366"}
is_a: MONDO:0019287 {source="MESH:C536565", source="Orphanet:3357"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome" xsd:anyURI

[Term]
id: MONDO:0018063
name: nodular non-suppurative panniculitis
def: "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." [Orphanet:33577]
subset: gard_rare {source="GARD:7879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:33577"}
subset: orphanet_rare {source="Orphanet:33577"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic lobular panniculitis" EXACT [Orphanet:33577]
synonym: "idiopathic nodular panniculitis" EXACT [Orphanet:33577]
synonym: "nodular non-suppurative febrile panniculitis" EXACT [DOID:1525]
synonym: "nodular nonsuppurative panniculitis" EXACT [MONDO:0006587]
synonym: "panniculitis nodular nonsuppurative" RELATED [GARD:0007879]
synonym: "Pfeiffer-Weber-Christian syndrome" EXACT [Orphanet:33577]
synonym: "Relapsing febrile nodular nonsuppurative panniculitis" EXACT [Orphanet:33577]
synonym: "Relapsing febrile nodular panniculitis" EXACT [Orphanet:33577]
synonym: "WCD" EXACT ABBREVIATION [Orphanet:33577]
synonym: "Weber - Christian disease" EXACT [DOID:1525]
synonym: "Weber Christian disease" RELATED [GARD:0007879]
synonym: "Weber-Christian disease" EXACT [DOID:1525, Orphanet:33577]
synonym: "Weber-Christian panniculitis" EXACT [Orphanet:33577]
xref: DOID:1525 {source="MONDO:equivalentTo", source="EFO:1000742"}
xref: EFO:1000742 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7879 {source="MONDO:GARD"}
xref: ICD10CM:M35.6 {source="Orphanet:33577", source="Orphanet:33577/e", source="DOID:1525"}
xref: MedDRA:10047883 {source="Orphanet:33577", source="Orphanet:33577/e"}
xref: MEDGEN:10559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010201 {source="Orphanet:33577", source="MONDO:equivalentTo", source="Orphanet:33577/e", source="DOID:1525"}
xref: Orphanet:33577 {source="MONDO:equivalentTo"}
xref: SCTID:203120002 {source="DOID:1525"}
xref: SCTID:203121003 {source="DOID:1525"}
xref: SCTID:33760009 {source="MONDO:equivalentTo", source="DOID:1525"}
xref: UMLS:C0030328 {source="MEDGEN:10559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006591 {source="DOID:1525", source="EFO:1000742", source="MESH:D010201"} ! panniculitis
is_a: MONDO:0019296 {source="Orphanet:33577"} ! subcutaneous tissue disorder

[Term]
id: MONDO:0018064
name: trigonocephaly-broad thumbs syndrome
def: "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." [Orphanet:3365]
subset: gard_rare {source="GARD:2756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3365"}
subset: ordo_malformation_syndrome {source="Orphanet:3365"}
subset: orphanet_rare {source="Orphanet:3365"}
subset: rare
synonym: "Hunter Rudd Hoffmann syndrome" RELATED [GARD:0002756]
synonym: "Hunter-Rudd-Hoffmann syndrome" EXACT [Orphanet:3365]
xref: GARD:2756 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3365", source="Orphanet:3365/attributed", source="Orphanet:3365/ntbt"}
xref: MEDGEN:930637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3365 {source="MONDO:equivalentTo"}
xref: SCTID:719949001 {source="MONDO:equivalentTo"}
xref: UMLS:C4304968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930637"}
is_a: MONDO:0015338 {source="Orphanet:3365"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0018065
name: isolated trigonocephaly
def: "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture." [Orphanet:3366]
subset: gard_rare {source="GARD:16626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3366"}
subset: ordo_morphological_anomaly {source="Orphanet:3366"}
subset: orphanet_rare {source="Orphanet:3366"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-syndromic metopic craniosynostosis" EXACT [Orphanet:3366]
synonym: "nonsyndromic trigonocephaly" EXACT [MONDO:patterns/isolated]
xref: GARD:16626 {source="MONDO:GARD"}
xref: ICD10CM:Q75.0 {source="Orphanet:3366/ntbt", source="Orphanet:3366", source="Orphanet:3366/inclusion"}
xref: NANDO:2201305 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:190440 {source="MONDO:equivalentTo"}
xref: Orphanet:3366 {source="MONDO:equivalentTo"}
is_a: MONDO:0015337 {source="Orphanet:3366"} ! isolated craniosynostosis
intersection_of: MONDO:0000156 ! trigonocephaly
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:190440"} ! inherited

[Term]
id: MONDO:0018066
name: trisomy X
def: "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." [Orphanet:3375]
subset: gard_rare {source="GARD:5672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1798"}
subset: ordo_disorder {source="Orphanet:3375"}
subset: ordo_malformation_syndrome {source="Orphanet:3375"}
subset: orphanet_rare {source="Orphanet:3375"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "47 XXX syndrome" RELATED [GARD:0005672]
synonym: "47,XXX" EXACT [NCIT:C129718]
synonym: "47,XXX syndrome" EXACT [Orphanet:3375]
synonym: "triple X syndrome" EXACT [GARD:0005672, Orphanet:3375]
synonym: "triple-X chromosome syndrome" RELATED [GARD:0005672]
synonym: "triple-X female" RELATED [GARD:0005672]
synonym: "Triplo X syndrome" RELATED [GARD:0005672]
synonym: "Triplo-X syndrome" EXACT [Orphanet:3375]
synonym: "trisomy type X" EXACT [MONDORULE:1, Orphanet:3375]
synonym: "trisomy X" EXACT [GARD:0005672]
synonym: "XXX syndrome" EXACT [GARD:0005672, Orphanet:3375]
xref: GARD:5672 {source="MONDO:GARD"}
xref: ICD10CM:Q97.0 {source="Orphanet:3375", source="Orphanet:3375/e", source="Orphanet:3375/specific"}
xref: icd11.foundation:423644907 {source="Orphanet:3375", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:113140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535318 {source="MONDO:equivalentTo"}
xref: MESH:D014314 {source="Orphanet:3375", source="Orphanet:3375/e"}
xref: NCIT:C129718 {source="MONDO:equivalentTo"}
xref: NORD:1798 {source="MONDO:NORD"}
xref: Orphanet:3375 {source="MONDO:equivalentTo", source="GARD:0005672"}
xref: SCTID:35111009 {source="MONDO:equivalentTo"}
xref: UMLS:C0221033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113140"}
is_a: MONDO:0002254 {source="NCIT:C129718", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019852 {source="Orphanet:3375"} ! inherited primary ovarian failure
is_a: MONDO:0700065 {source="https://orcid.org/0000-0002-4142-7153"} ! trisomy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome" xsd:anyURI {source="GARD:0005672"}

[Term]
id: MONDO:0018067
name: triploidy
def: "Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/5295/triploidy]
subset: gard_rare {source="GARD:5295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1794"}
subset: ordo_disorder {source="Orphanet:3376"}
subset: ordo_malformation_syndrome {source="Orphanet:3376"}
subset: orphanet_rare {source="Orphanet:3376"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome triploidy syndrome" RELATED [GARD:0005295]
synonym: "triploid syndrome" RELATED [GARD:0005295]
synonym: "triploidy syndrome" RELATED [GARD:0005295]
xref: GARD:5295 {source="MONDO:GARD"}
xref: ICD10CM:Q92.7 {source="Orphanet:3376", source="Orphanet:3376/attributed", source="Orphanet:3376/ntbt"}
xref: icd11.foundation:1900317965 {source="Orphanet:3376", source="MONDO:equivalentTo"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057885 {source="Orphanet:3376", source="MONDO:equivalentTo", source="Orphanet:3376/e"}
xref: NCIT:C85204 {source="MONDO:equivalentTo"}
xref: NORD:1794 {source="MONDO:NORD"}
xref: Orphanet:3376 {source="MONDO:equivalentTo"}
xref: SCTID:66651005 {source="MONDO:equivalentTo"}
xref: UMLS:C0333693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90711"}
is_a: MONDO:0019934 {source="MESH:D057885", source="Orphanet:3376"} ! polyploidy
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3376", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5295/triploidy" xsd:anyURI {source="GARD:0005295"}

[Term]
id: MONDO:0018068
name: trisomy 13
def: "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation." [Orphanet:3378]
subset: gard_rare {source="GARD:7341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1796"}
subset: ordo_disorder {source="Orphanet:3378"}
subset: ordo_malformation_syndrome {source="Orphanet:3378"}
subset: orphanet_rare {source="Orphanet:3378"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 13, trisomy 13 complete" RELATED [GARD:0007341]
synonym: "D trisomy syndrome (formerly)" RELATED [GARD:0007341]
synonym: "D1 trisomy" RELATED [DOID:11665, NCIT:C36529]
synonym: "Patau syndrome" EXACT [MONDO:0001333, NCIT:C101223, Orphanet:3378]
synonym: "Patau's syndrome" EXACT [DOID:11665, ICD9CM:758.1]
synonym: "trisomy 13" EXACT [DOID:11665]
synonym: "Trisomy 13 Syndrome" EXACT [NORD:1796]
synonym: "trisomy type 13" EXACT [MONDORULE:2, Orphanet:3378]
xref: DOID:11665 {source="MONDO:equivalentTo"}
xref: GARD:7341 {source="MONDO:GARD"}
xref: ICD10CM:Q91.4 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"}
xref: ICD10CM:Q91.5 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"}
xref: ICD10CM:Q91.6 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"}
xref: ICD10CM:Q91.7 {source="DOID:11665", source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"}
xref: icd11.foundation:1435958084 {source="Orphanet:3378", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:758.1 {source="DOID:11665", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10044686 {source="Orphanet:3378", source="Orphanet:3378/e"}
xref: MEDGEN:56261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536305 {source="DOID:11665", source="MONDO:equivalentTo"}
xref: NANDO:2200964 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C101223 {source="DOID:11665", source="MONDO:equivalentTo"}
xref: NCIT:C36529 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"}
xref: NORD:1796 {source="MONDO:NORD"}
xref: Orphanet:3378 {source="MONDO:equivalentTo"}
xref: SCTID:156995003 {source="DOID:11665"}
xref: SCTID:157021007 {source="DOID:11665"}
xref: SCTID:205622008 {source="DOID:11665"}
xref: SCTID:21111006 {source="DOID:11665", source="MONDO:equivalentTo"}
xref: SCTID:254267009 {source="DOID:11665"}
xref: SCTID:268344000 {source="DOID:11665"}
xref: SCTID:268357008 {source="DOID:11665"}
xref: UMLS:C0152095 {source="MEDGEN:56261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C101223"} ! syndromic disease
is_a: MONDO:0019040 {source="DOID:11665", source="MESH:C536305"} ! chromosomal disorder
is_a: MONDO:0020247 {source="Orphanet:3378"} ! congenital vitreoretinal dysplasia
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr13 ! chromosome 13 (Human)
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3378", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/5597#issuecomment-1316149238" xsd:anyURI

[Term]
id: MONDO:0018069
name: distal trisomy 17q
def: "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated." [Orphanet:3379]
subset: gard_rare {source="GARD:18794", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3379"}
subset: ordo_malformation_syndrome {source="Orphanet:3379"}
subset: orphanet_rare {source="Orphanet:3379"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal duplication 17q" EXACT [Orphanet:3379]
synonym: "distal trisomy type 17q" EXACT [MONDORULE:4, Orphanet:3379]
synonym: "telomeric duplication 17q" EXACT [Orphanet:3379]
synonym: "trisomy 17qter" EXACT [Orphanet:3379]
xref: GARD:18794 {source="MONDO:GARD"}
xref: MEDGEN:1635674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536579 {source="Orphanet:3379", source="Orphanet:3379/e"}
xref: Orphanet:3379 {source="MONDO:equivalentTo"}
xref: SCTID:766051001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707663 {source="MEDGEN:1635674", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016967 {source="Orphanet:3379"} ! partial duplication of the long arm of chromosome 17
relationship: disease_arises_from_structure CHR:9606-chr17q {source="https://orcid.org/0000-0002-4142-7153"} ! 17q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0018070
name: familial multiple fibrofolliculoma
def: "Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." [Orphanet:338]
subset: gard_rare {source="GARD:3831", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "multiple fibrofolliculoma familial" RELATED [GARD:0003831]
xref: GARD:3831 {source="MONDO:GARD"}
xref: Orphanet:338 {source="MONDO:equivalentObsolete"}
xref: SCTID:723361006 {source="MONDO:equivalentTo"}
is_a: MONDO:0000652 {source="https://orcid.org/0009-0001-6494-4831"} ! integumentary system benign neoplasm
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015356 {source="https://orcid.org/0009-0001-6494-4831"} ! hereditary neoplastic syndrome
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor
is_a: MONDO:0100118 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary skin disorder
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:338", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6533" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial" xsd:anyURI {source="GARD:0003831"}

[Term]
id: MONDO:0018071
name: trisomy 18
def: "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." [Orphanet:3380]
subset: gard_rare {source="GARD:6321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1797"}
subset: ordo_disorder {source="Orphanet:3380"}
subset: ordo_malformation_syndrome {source="Orphanet:3380"}
subset: orphanet_rare {source="Orphanet:3380"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "18 trisomy" RELATED [GARD:0006321]
synonym: "chromosome 18 duplication" EXACT [Orphanet:3380]
synonym: "chromosome 18 trisomy" RELATED [GARD:0006321]
synonym: "complete trisomy 18 syndrome" EXACT [DOID:1085]
synonym: "E3 trisomy" EXACT [DOID:1085]
synonym: "Edwards syndrome" EXACT [MONDO:0001140, Orphanet:3380]
synonym: "trisomy 16-18 (formerly)" RELATED [GARD:0006321]
synonym: "trisomy 18" EXACT [DOID:1085]
synonym: "trisomy E (formerly)" RELATED [GARD:0006321]
synonym: "trisomy type 18" EXACT [MONDORULE:2, Orphanet:3380]
xref: DOID:1085 {source="MONDO:equivalentTo"}
xref: GARD:6321 {source="MONDO:GARD"}
xref: ICD10CM:Q91.0 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"}
xref: ICD10CM:Q91.1 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"}
xref: ICD10CM:Q91.2 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"}
xref: ICD10CM:Q91.3 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380", source="DOID:1085"}
xref: icd11.foundation:1505179968 {source="MONDO:equivalentTo", source="Orphanet:3380", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:758.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1085"}
xref: MedDRA:10053884 {source="Orphanet:3380/e", source="Orphanet:3380"}
xref: MEDGEN:1384417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580500 {source="MONDO:equivalentTo", source="DOID:1085"}
xref: NANDO:2200963 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C101362 {source="DOID:1085"}
xref: NCIT:C36626 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: NORD:1797 {source="MONDO:NORD"}
xref: Orphanet:3380 {source="MONDO:equivalentTo"}
xref: SCTID:157022000 {source="DOID:1085"}
xref: SCTID:205626006 {source="DOID:1085"}
xref: SCTID:254265001 {source="DOID:1085"}
xref: SCTID:51500006 {source="MONDO:equivalentTo", source="DOID:1085"}
xref: UMLS:C4317091 {source="MEDGEN:1384417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019040 {source="DOID:1085", source="Orphanet:3380/inferred"} ! chromosomal disorder
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human)
relationship: disease_has_feature HP:0009743 {source="Orphanet:3380"} ! Distichiasis
relationship: excluded_subClassOf MONDO:0020186 {source="Orphanet:3380", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow hypertrophy
relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:3380", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes distichiasis
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:3380", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018072
name: persistent truncus arteriosus
def: "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death." [NCIT:C98880]
subset: gard_rare {source="GARD:16627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1800"}
subset: ordo_disorder {source="Orphanet:3384"}
subset: ordo_morphological_anomaly {source="Orphanet:3384"}
subset: orphanet_rare {source="Orphanet:3384"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "common aorticopulmonary trunk" EXACT [Orphanet:3384]
synonym: "common arterial trunk" EXACT [Orphanet:3384]
synonym: "common truncus arteriosus" EXACT [NCIT:C98880]
synonym: "persistent truncus arteriosus" EXACT [NCIT:C98880]
synonym: "persistent truncus arteriosus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "TAC" EXACT ABBREVIATION [Orphanet:3384]
synonym: "Truncus Arteriosus" EXACT [NORD:1800]
synonym: "truncus arteriosus" EXACT [NCIT:C98880]
xref: GARD:16627 {source="MONDO:GARD"}
xref: ICD10CM:Q20.0 {source="Orphanet:3384/specific", source="Orphanet:3384/e", source="Orphanet:3384"}
xref: icd11.foundation:1832500366 {source="MONDO:equivalentTo", source="Orphanet:3384", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:52867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014339 {source="MONDO:equivalentTo"}
xref: NANDO:1200693 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200261 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98880 {source="MONDO:equivalentTo"}
xref: NORD:1800 {source="MONDO:NORD"}
xref: Orphanet:3384 {source="MONDO:equivalentTo"}
xref: UMLS:C0041207 {source="MEDGEN:52867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005453 {source="NCIT:C98880"} ! congenital heart disease
is_a: MONDO:0016581 {source="Orphanet:3384"} ! conotruncal heart malformations
disjoint_from: UBERON:0002061 {source="https://orcid.org/0000-0002-6601-2165"} ! truncus arteriosus
relationship: disease_has_feature HP:0001660 {source="https://github.com/monarch-initiative/mondo/issues/1175"} ! Truncus arteriosus
relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic cardiac malformation
property_value: IAO:0000589 "persistent truncus arteriosus (disease)" xsd:string

[Term]
id: MONDO:0018074
name: obsolete American trypanosomiasis
is_obsolete: true
replaced_by: MONDO:0001444

[Term]
id: MONDO:0018075
name: neural tube defect
def: "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida." [NCIT:C84923]
subset: disease_grouping
subset: gard_rare {source="GARD:18796", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:3388"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NTD" EXACT ABBREVIATION [NCIT:C84923]
synonym: "spinal dysraphism" EXACT [NCIT:C84923]
xref: DOID:0080074 {source="MONDO:equivalentTo"}
xref: GARD:18796 {source="MONDO:GARD"}
xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009436 {source="MONDO:equivalentTo"}
xref: NCIT:C84923 {source="MONDO:equivalentTo"}
xref: Orphanet:3388 {source="MONDO:equivalentTo"}
xref: SCTID:253098009 {source="MONDO:equivalentTo"}
xref: UMLS:C0027794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18009"}
is_a: MONDO:0020022 {source="MESH:D009436", source="Orphanet:3388/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:3388", source="Orphanet:3388/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:3388", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation
relationship: excluded_subClassOf MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:3388", source="Orphanet:3388/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0018076
name: tuberculosis
def: "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." [NCIT:C3423]
subset: gard_rare {source="GARD:7827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1801"}
subset: ordo_group_of_disorders {source="Orphanet:3389"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "active tuberculosis" NARROW [NCIT:C3423]
synonym: "Kochs disease" RELATED [GARD:0007827]
synonym: "TB" RELATED ABBREVIATION [GARD:0007827]
synonym: "tuberculosis disease" EXACT [NCIT:C3423]
xref: DOID:399 {source="MONDO:equivalentTo"}
xref: GARD:7827 {source="MONDO:GARD"}
xref: ICD10CM:A15-A19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:017.92 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:017.94 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:017.96 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10044755 {source="Orphanet:3389", source="Orphanet:3389/e"}
xref: MEDGEN:22513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014375 {source="DOID:399"}
xref: MESH:D014376 {source="Orphanet:3389", source="MONDO:equivalentTo", source="Orphanet:3389/e", source="DOID:399"}
xref: NCIT:C3423 {source="MONDO:equivalentTo"}
xref: NORD:1801 {source="MONDO:NORD"}
xref: Orphanet:3389 {source="MONDO:equivalentTo"}
xref: SCTID:15202009 {source="DOID:399"}
xref: SCTID:56717001 {source="MONDO:equivalentTo"}
xref: UMLS:C0041296 {source="MEDGEN:22513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:399"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="Orphanet:3389"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1773 ! Mycobacterium tuberculosis
disjoint_from: MONDO:0018469 ! pulmonary non-tuberculous mycobacterial infection
relationship: disease_has_infectious_agent NCBITaxon:1773 {source="MONDO:Wikidata"} ! Mycobacterium tuberculosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7827/tuberculosis" xsd:anyURI {source="GARD:0007827"}

[Term]
id: MONDO:0018077
name: tularemia
def: "Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics." [https://rarediseases.info.nih.gov/diseases/396/tularemia]
subset: gard_rare {source="GARD:396", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1803", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3392"}
subset: orphanet_rare {source="Orphanet:3392"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Deerfly fever" RELATED [GARD:0000396]
synonym: "Francisella tularensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Francisella tularensis disease or disorder" EXACT []
synonym: "Francisella tularensis infection" RELATED [GARD:0000396]
synonym: "Francisella tularensis infectious disease" EXACT []
synonym: "lemming fever" RELATED [GARD:0000396]
synonym: "Ohara disease" RELATED [GARD:0000396]
synonym: "Pahvant Valley plague" RELATED [GARD:0000396]
synonym: "rabbit fever" RELATED [GARD:0000396]
synonym: "Yatobyo (Japan)" RELATED [GARD:0000396]
xref: DOID:2123 {source="MONDO:equivalentTo"}
xref: EFO:1001444 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:396 {source="MONDO:GARD"}
xref: ICD10CM:A21 {source="MONDO:equivalentTo"}
xref: ICD10CM:A21.0 {source="Orphanet:3392", source="Orphanet:3392/btnt"}
xref: ICD10CM:A21.1 {source="Orphanet:3392", source="Orphanet:3392/btnt"}
xref: ICD10CM:A21.2 {source="Orphanet:3392", source="Orphanet:3392/btnt"}
xref: ICD10CM:A21.3 {source="Orphanet:3392", source="Orphanet:3392/btnt"}
xref: ICD10CM:A21.7 {source="Orphanet:3392", source="Orphanet:3392/btnt"}
xref: ICD10CM:A21.8 {source="Orphanet:3392", source="Orphanet:3392/btnt"}
xref: ICD10CM:A21.9 {source="Orphanet:3392", source="Orphanet:3392/btnt"}
xref: ICD9:021.8 {source="DOID:2123"}
xref: ICD9:021.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10045146 {source="Orphanet:3392/e", source="Orphanet:3392"}
xref: MEDGEN:22520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014406 {source="Orphanet:3392/e", source="DOID:2123", source="MONDO:equivalentTo", source="Orphanet:3392"}
xref: NCIT:C85208 {source="MONDO:equivalentTo"}
xref: NORD:1803 {source="MONDO:NORD"}
xref: Orphanet:3392 {source="MONDO:equivalentTo"}
xref: SCTID:111834003 {source="DOID:2123"}
xref: SCTID:186298002 {source="DOID:2123"}
xref: SCTID:186299005 {source="DOID:2123"}
xref: SCTID:19265001 {source="MONDO:equivalentTo"}
xref: UMLS:C0041351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22520"}
is_a: MONDO:0000314 {source="DOID:2123"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:2123/inferred", source="EFO:1001444", source="MESH:D014406/inferred", source="MONDO:Redundant", source="NCIT:C85208", source="Orphanet:3392"} ! bacterial infectious disease
is_a: MONDO:0100120 {comment="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:263 ! Francisella tularensis
relationship: disease_has_infectious_agent NCBITaxon:263 {source="MONDO:Wikidata"} ! Francisella tularensis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
relationship: transmitted_by NCBITaxon:27458 ! Chrysops
relationship: transmitted_by NCBITaxon:34621 ! Dermacentor variabilis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/396/tularemia" xsd:anyURI {source="GARD:0000396"}

[Term]
id: MONDO:0018078
name: soft tissue sarcoma
def: "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." [NCIT:C9306]
subset: disease_grouping
subset: gard_rare {source="GARD:4898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1953"}
subset: ordo_group_of_disorders {source="Orphanet:3394"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "connective tissue sarcoma" EXACT [NCIT:C9306]
synonym: "malignant mesenchymal tumor" EXACT [Orphanet:3394]
synonym: "malignant mesenchymal tumour" EXACT OMO:0003005 []
synonym: "malignant soft tissue tumor" BROAD [Orphanet:3394]
synonym: "malignant soft tissue tumour" BROAD OMO:0003005 []
synonym: "non-Rhabdo. soft tissue sarcoma" EXACT [NCIT:C9306]
synonym: "non-rhabdomyosarcoma soft tissue sarcoma, NOS" RELATED EXCLUDE [NCIT:C9306]
synonym: "sarcoma of soft tissue" EXACT [NCIT:C9306]
synonym: "sarcoma of the soft tissue" EXACT [NCIT:C9306]
synonym: "soft part sarcoma" EXACT [Orphanet:3394]
synonym: "soft tissue sarcoma" EXACT [NCIT:C9306]
xref: EFO:1001968 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4898 {source="MONDO:GARD"}
xref: MEDGEN:1642116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9306 {source="MONDO:equivalentTo"}
xref: NORD:1953 {source="MONDO:NORD"}
xref: Orphanet:3394 {source="MONDO:equivalentTo"}
xref: SCTID:424952003 {source="MONDO:equivalentTo"}
xref: UMLS:C4551687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642116"}
is_a: MONDO:0005089 {source="EFO:1001968", source="NCIT:C9306"} ! sarcoma
is_a: MONDO:0006424 {source="Orphanet:3394"} ! soft tissue neoplasm
is_a: MONDO:0024637 {source="NCIT:C9306"} ! malignant soft tissue neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare

[Term]
id: MONDO:0018079
name: thymic epithelial neoplasm
def: "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." [NCIT:C6450]
subset: disease_grouping
subset: gard_rare {source="GARD:5201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:3398"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epithelial neoplasm of the Thymus" EXACT [NCIT:C6450]
synonym: "epithelial neoplasm of Thymus" EXACT [NCIT:C6450]
synonym: "epithelial tumor of the Thymus" EXACT [NCIT:C6450]
synonym: "epithelial tumor of Thymus" EXACT [NCIT:C6450]
synonym: "epithelial tumour of the Thymus" EXACT OMO:0003005 []
synonym: "epithelial tumour of Thymus" EXACT OMO:0003005 []
synonym: "TEN" EXACT ABBREVIATION [Orphanet:3398]
synonym: "Tet" RELATED [ONCOTREE:TET]
synonym: "thymic epithelial tumor" EXACT [NCIT:C6450, Orphanet:3398]
synonym: "thymic epithelial tumour" EXACT OMO:0003005 []
synonym: "thymic epithelium neoplasm" EXACT [NCIT:C6450]
synonym: "thymoma, adult" RELATED [GARD:0005201]
synonym: "Thymus epithelial neoplasm" EXACT [NCIT:C6450]
synonym: "thymus epithelial neoplasm" EXACT [MONDO:patterns/location]
synonym: "Thymus epithelial tumor" EXACT [NCIT:C6450]
synonym: "Thymus epithelial tumour" EXACT OMO:0003005 []
xref: GARD:5201 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:3398", source="Orphanet:3398/ntbt"}
xref: ICD10CM:D15.0 {source="Orphanet:3398", source="Orphanet:3398/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:220416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536905 {source="Orphanet:3398", source="MONDO:equivalentTo", source="Orphanet:3398/e"}
xref: NCIT:C6450 {source="MONDO:equivalentTo"}
xref: ONCOTREE:TET {source="MONDO:equivalentTo"}
xref: Orphanet:3398 {source="MONDO:equivalentTo"}
xref: UMLS:C1266101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220416"}
is_a: MONDO:0005197 {source="MONDO:Redundant", source="NCIT:C6450", source="ONCOTREE:TET", source="Orphanet:3398"} ! thymus neoplasm
is_a: MONDO:0005626 {source="MESH:C536905", source="MONDO:Redundant", source="NCIT:C6450"} ! epithelial neoplasm
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0018080
name: obsolete rare germ cell tumor
def: "OBSOLETE. Rare germ cell tumor." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:3399"}
synonym: "germ cell tumor" BROAD [Orphanet:3399]
synonym: "rare germ cell tumor" EXACT [MONDO:patterns/rare]
xref: GARD:18797 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:3399 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:402878003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005040

[Term]
id: MONDO:0018081
name: hemorrhagic fever-renal syndrome
def: "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations." [Orphanet:340]
subset: gard_rare {source="GARD:18689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:340"}
subset: orphanet_rare {source="Orphanet:340"}
subset: rare
synonym: "Hantavirosis" EXACT [Orphanet:340]
synonym: "Hantavirus fever" EXACT [Orphanet:340]
xref: GARD:18689 {source="MONDO:GARD"}
xref: ICD10EXP:A98.5+ {source="Orphanet:340/e", source="Orphanet:340"}
xref: ICD10EXP:N08.0* {source="Orphanet:340/e", source="Orphanet:340"}
xref: icd11.foundation:1059069619 {source="MONDO:equivalentTo", source="Orphanet:340", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10023484 {source="Orphanet:340/e", source="Orphanet:340"}
xref: MEDGEN:42408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535630 {source="Orphanet:340/e", source="MONDO:equivalentTo", source="Orphanet:340"}
xref: MESH:D006480 {source="Orphanet:340/e", source="Orphanet:340"}
xref: Orphanet:340 {source="MONDO:equivalentTo"}
xref: UMLS:C0019101 {source="MEDGEN:42408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018087 {source="MESH:C535630/inferred", source="Orphanet:340"} ! viral hemorrhagic fever
relationship: disease_has_infectious_agent NCBITaxon:1980442 ! Orthohantavirus

[Term]
id: MONDO:0018082
name: aorto-ventricular tunnel
def: "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." [Orphanet:3400]
subset: gard_rare {source="GARD:18798", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3400"}
subset: ordo_morphological_anomaly {source="Orphanet:3400"}
subset: orphanet_rare {source="Orphanet:3400"}
subset: rare
synonym: "aorto-ventricular tunnel" EXACT [MONDO:ambiguous]
synonym: "aorto-ventricular tunnel (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:18798 {source="MONDO:GARD"}
xref: HP:0011627 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q20.8 {source="Orphanet:3400", source="Orphanet:3400/ntbt"}
xref: MEDGEN:868852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000082903 {source="MONDO:equivalentTo"}
xref: Orphanet:3400 {source="MONDO:equivalentTo"}
xref: UMLS:C4023262 {source="MEDGEN:868852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "aorto-ventricular tunnel (disease)" xsd:string

[Term]
id: MONDO:0018083
name: transient tyrosinemia of the newborn
def: "A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." [https://orcid.org/0000-0001-5208-3432, Orphanet:3402]
subset: gard_rare {source="GARD:5388", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3402"}
subset: orphanet_rare {source="Orphanet:3402"}
subset: rare
synonym: "transient neonatal tyrosinemia" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "transient tyrosinemia of the neonate" EXACT [Orphanet:3402]
synonym: "tyrosine-oxidase temporary deficiency" RELATED [GARD:0005388]
xref: GARD:5388 {source="MONDO:GARD"}
xref: ICD10CM:P74.5 {source="Orphanet:3402", source="Orphanet:3402/e", source="Orphanet:3402/specific"}
xref: MEDGEN:541331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3402 {source="MONDO:equivalentTo"}
xref: UMLS:C0268485 {source="MEDGEN:541331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004741 {source="https://orcid.org/0000-0001-5208-3432"} ! tyrosinemia
relationship: excluded_subClassOf MONDO:0017307 {source="Orphanet:3402", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of tyrosine metabolism
relationship: has_characteristic HP:0025153 ! Transient
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4615" xsd:anyURI

[Term]
id: MONDO:0018084
name: Uhl anomaly
def: "Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation." [Orphanet:3403]
comment: Editor note: check xrefs
subset: gard_rare {source="GARD:5393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3403"}
subset: ordo_morphological_anomaly {source="Orphanet:3403"}
subset: orphanet_rare {source="Orphanet:3403"}
subset: rare
synonym: "parchment right ventricle" RELATED [GARD:0005393]
synonym: "Uhl's anomaly" RELATED [GARD:0005393]
xref: GARD:5393 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:3403", source="Orphanet:3403/ntbt"}
xref: MedDRA:10048951 {source="Orphanet:3403", source="Orphanet:3403/e"}
xref: MEDGEN:78576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536932 {source="MONDO:equivalentTo", source="Orphanet:3403", source="Orphanet:3403/e"}
xref: Orphanet:3403 {source="MONDO:equivalentTo"}
xref: UMLS:C0265857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78576"}
is_a: MONDO:0004994 {source="Orphanet:3403"} ! cardiomyopathy

[Term]
id: MONDO:0018085
name: umbilical cord ulceration-intestinal atresia syndrome
def: "Umbilical cord ulceration-intestinal atresia syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage." [Orphanet:3405]
subset: gard_rare {source="GARD:5403", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3405"}
subset: ordo_malformation_syndrome {source="Orphanet:3405"}
subset: orphanet_rare {source="Orphanet:3405"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "umbilical cord ulcer with intestinal atresia" RELATED [GARD:0005403]
synonym: "umbilical cord ulceration and intestinal atresia" RELATED [GARD:0005403]
synonym: "umbilical ulceration and intestinal atresia" RELATED [GARD:0005403]
xref: GARD:5403 {source="MONDO:GARD"}
xref: MEDGEN:419062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536938 {source="MONDO:equivalentTo", source="Orphanet:3405", source="Orphanet:3405/e"}
xref: Orphanet:3405 {source="MONDO:equivalentTo"}
xref: UMLS:C2931371 {source="MEDGEN:419062", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0004335 {source="https://orcid.org/0000-0002-4142-7153"} ! digestive system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018086
name: ulerythema ophryogenesis
def: "Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection." [Orphanet:3406]
subset: gard_rare {source="GARD:5395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3406"}
subset: orphanet_rare {source="Orphanet:3406"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratosis pilaris affecting the follicles of the eyebrow hairs" RELATED [GARD:0005395]
synonym: "type of genodermatosis" RELATED [GARD:0005395]
xref: GARD:5395 {source="MONDO:GARD"}
xref: MEDGEN:1813086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3406 {source="MONDO:equivalentTo"}
xref: UMLS:C5700076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1813086"}
is_a: MONDO:0018855 {source="Orphanet:3406"} ! keratosis pilaris atrophicans
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis" xsd:anyURI {source="GARD:0005395"}

[Term]
id: MONDO:0018087
name: viral hemorrhagic fever
def: "A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging." [https://www.cdc.gov/vhf/index.html]
subset: disease_grouping
subset: gard_rare {source="GARD:5494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:341"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "haemorrhagic fever" BROAD [https://medlineplus.gov/hemorrhagicfevers.html, https://orcid.org/0000-0002-6315-0263]
synonym: "haemorrhagic fevers, viral" EXACT [https://orcid.org/0000-0002-6315-0263]
synonym: "hemorrhagic fever" BROAD [https://medlineplus.gov/hemorrhagicfevers.html, https://orcid.org/0000-0002-6315-0263]
synonym: "hemorrhagic fevers" BROAD [https://orcid.org/0000-0002-6315-0263]
synonym: "VHF" EXACT ABBREVIATION [https://orcid.org/0000-0002-6315-0263]
synonym: "VHFs" EXACT ABBREVIATION [https://orcid.org/0000-0002-6315-0263]
synonym: "viral haemorrhagic fever" EXACT [https://orcid.org/0000-0002-6315-0263]
xref: GARD:5494 {source="MONDO:GARD"}
xref: MEDGEN:9213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006482 {source="MONDO:equivalentTo"}
xref: NCIT:C36170 {source="MONDO:equivalentTo"}
xref: Orphanet:341 {source="MONDO:equivalentTo"}
xref: SCTID:240523007 {source="MONDO:equivalentTo"}
xref: UMLS:C0019104 {source="MEDGEN:9213", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0600002 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! hemorrhagic fever
intersection_of: MONDO:0600002 ! hemorrhagic fever
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever" xsd:anyURI {source="GARD:0005494"}

[Term]
id: MONDO:0018088
name: familial Mediterranean fever
def: "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." [Orphanet:342]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6421", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1130", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:342"}
subset: orphanet_rare {source="Orphanet:342"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign paroxysmal peritonitis" EXACT [DOID:2987, Orphanet:342]
synonym: "benign recurrent polyserositis" EXACT [Orphanet:342]
synonym: "familial paroxysmal polyserositis" EXACT [Orphanet:342]
synonym: "Fiebre mediterránea familiar" EXACT [NORD:1130]
synonym: "FMF" EXACT ABBREVIATION [Orphanet:342]
synonym: "periodic disease" EXACT [Orphanet:342]
xref: DOID:2987 {source="MONDO:equivalentTo"}
xref: GARD:6421 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="DOID:2987", source="Orphanet:342/ntbt", source="Orphanet:342/inclusion", source="Orphanet:342"}
xref: icd11.foundation:1373335705 {source="MONDO:equivalentTo", source="Orphanet:342"}
xref: ICD9:277.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2987"}
xref: MedDRA:10016207 {source="Orphanet:342/e", source="Orphanet:342"}
xref: MEDGEN:45811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010505 {source="Orphanet:342/e", source="MONDO:equivalentTo", source="DOID:2987", source="Orphanet:342"}
xref: NANDO:1200863 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200431 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84707 {source="MONDO:equivalentTo", source="DOID:2987"}
xref: NORD:1130 {source="MONDO:NORD"}
xref: Orphanet:342 {source="MONDO:equivalentTo", source="DOID:2987"}
xref: SCTID:12579009 {source="MONDO:equivalentTo", source="DOID:2987"}
xref: UMLS:C0031069 {source="MEDGEN:45811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0017953 {source="MESH:D010505", source="Orphanet:342"} ! hereditary periodic fever syndrome
is_a: MONDO:0019751 {source="Orphanet:342/inferred", source="PMID:23827249", source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0007179 {source="DOID:2987", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:342", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0018089
name: double outlet right ventricle
def: "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." [Orphanet:3426]
subset: gard_rare {source="GARD:1908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3426"}
subset: ordo_morphological_anomaly {source="Orphanet:3426"}
subset: orphanet_rare {source="Orphanet:3426"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dextrotransposition of aorta" EXACT [DOID:6406]
synonym: "DORV" EXACT ABBREVIATION [Orphanet:3426]
synonym: "double outlet right ventricle" EXACT [DOID:6406, ICD9CM:745.11]
synonym: "double outlet right ventricle with subpulmonary ventricular septal defect" RELATED EXCLUDE [DOID:6406]
synonym: "Taussig-Bing syndrome or defect" RELATED EXCLUDE [DOID:6406]
xref: DOID:6406 {source="MONDO:equivalentTo"}
xref: GARD:1908 {source="MONDO:GARD"}
xref: ICD10CM:Q20.1 {source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/specific", source="Orphanet:3426/e"}
xref: icd11.foundation:141717788 {source="MONDO:equivalentTo", source="Orphanet:3426"}
xref: MedDRA:10013611 {source="Orphanet:3426", source="Orphanet:3426/e"}
xref: MEDGEN:41649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004310 {source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/e"}
xref: NANDO:1200710 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100076 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200256 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98916 {source="DOID:6406", source="MONDO:equivalentTo"}
xref: Orphanet:3426 {source="MONDO:equivalentTo"}
xref: SCTID:204298001 {source="DOID:6406"}
xref: SCTID:204299009 {source="MONDO:equivalentTo"}
xref: SCTID:204302009 {source="DOID:6406"}
xref: SCTID:7484005 {source="DOID:6406"}
xref: UMLS:C0013069 {source="MEDGEN:41649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002070 {source="DOID:6406"} ! ventricular septal defect
is_a: MONDO:0016581 {source="Orphanet:3426"} ! conotruncal heart malformations
is_a: MONDO:0024239 {source="NCIT:C98916"} ! congenital anomaly of cardiovascular system

[Term]
id: MONDO:0018090
name: double outlet left ventricle
def: "Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle." [Orphanet:3427]
subset: gard_rare {source="GARD:1907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3427"}
subset: ordo_morphological_anomaly {source="Orphanet:3427"}
subset: orphanet_rare {source="Orphanet:3427"}
subset: rare
synonym: "DOLV" EXACT ABBREVIATION [Orphanet:3427]
synonym: "Double outlet left ventricle" EXACT [MONDO:ambiguous]
synonym: "double outlet left ventricle (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:1907 {source="MONDO:GARD"}
xref: HP:0011581 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q20.2 {source="Orphanet:3427", source="Orphanet:3427/e"}
xref: icd11.foundation:2094997989 {source="MONDO:equivalentTo", source="Orphanet:3427"}
xref: ICD9:745.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100077 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200257 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:3427 {source="MONDO:equivalentTo"}
xref: SCTID:7368005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120558"}
is_a: MONDO:0016581 {source="Orphanet:3427"} ! conotruncal heart malformations
property_value: IAO:0000589 "double outlet left ventricle (disease)" xsd:string

[Term]
id: MONDO:0018091
name: microcephaly-brachydactyly-kyphoscoliosis syndrome
def: "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." [Orphanet:3433]
subset: gard_rare {source="GARD:5490", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3433"}
subset: ordo_malformation_syndrome {source="Orphanet:3433"}
subset: orphanet_rare {source="Orphanet:3433"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly brachydactyly kyphoscoliosis" RELATED [GARD:0005490]
synonym: "microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability" RELATED [GARD:0005490]
synonym: "Viljoen Kallis Voges syndrome" RELATED [GARD:0005490]
synonym: "Viljoen-Kallis-Voges syndrome" EXACT [Orphanet:3433]
xref: GARD:5490 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3433", source="Orphanet:3433/attributed", source="Orphanet:3433/ntbt"}
xref: MEDGEN:419731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536349 {source="MONDO:equivalentTo"}
xref: Orphanet:3433 {source="GARD:0005490", source="MONDO:equivalentTo"}
xref: SCTID:719378009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419731"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015159 {source="Orphanet:3433"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019054 ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3433", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome" xsd:anyURI {source="GARD:0005490"}

[Term]
id: MONDO:0018092
name: Vogt-Koyanagi-Harada disease
def: "A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations." [Orphanet:3437]
subset: gard_rare {source="GARD:7862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1829"}
subset: ordo_disorder {source="Orphanet:3437"}
subset: orphanet_rare {source="Orphanet:3437"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Harada's disease" EXACT [DOID:12297, ICD9CM:363.22]
synonym: "Uveomenigitic syndrome" EXACT [Orphanet:3437]
synonym: "uveomeningoencephalitic syndrome" EXACT [DOID:12297]
synonym: "VKH disease" RELATED [GARD:0007862]
synonym: "VKH syndrome" RELATED [GARD:0007862]
synonym: "Vogt-Koyanagi syndrome" EXACT [DOID:12297, ICD9CM:364.24]
synonym: "Vogt-Koyanagi-Harada syndrome" RELATED [GARD:0007862]
xref: DOID:12297 {source="MONDO:equivalentTo"}
xref: GARD:7862 {source="MONDO:GARD"}
xref: ICD10CM:H20.8 {source="Orphanet:3437", source="Orphanet:3437/ntbt"}
xref: ICD10CM:H20.82 {source="DOID:12297"}
xref: ICD10CM:H30.8 {source="Orphanet:3437", source="Orphanet:3437/ntbt"}
xref: ICD10CM:H30.81 {source="DOID:12297"}
xref: ICD9:363.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12297"}
xref: ICD9:364.24 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12297"}
xref: MEDGEN:22599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014607 {source="MONDO:equivalentTo", source="DOID:12297"}
xref: NCIT:C85218 {source="MONDO:equivalentTo", source="DOID:12297"}
xref: NORD:1829 {source="MONDO:NORD"}
xref: Orphanet:3437 {source="MONDO:equivalentTo"}
xref: SCTID:193453003 {source="DOID:12297"}
xref: SCTID:193497004 {source="MONDO:equivalentTo", source="DOID:12297"}
xref: SCTID:44923005 {source="DOID:12297"}
xref: SCTID:47230004 {source="DOID:12297"}
xref: UMLS:C0042170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22599"}
is_a: MONDO:0017255 {source="Orphanet:3437"} ! panuveitis
relationship: disease_has_feature HP:0001287 ! Meningitis
relationship: disease_has_feature HP:0002960 ! Autoimmunity
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C85218", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0002977 {source="MESH:D014607", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disorder of the nervous system
relationship: excluded_subClassOf MONDO:0005071 {source="MONDO:0015916-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0020191 {source="Orphanet:3437", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes pigmentation anomaly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease" xsd:anyURI {source="GARD:0007862"}

[Term]
id: MONDO:0018093
name: arbovirus fever
def: "Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed." [Orphanet:344]
subset: disease_grouping
subset: gard_rare {source="GARD:18690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Arbovirosis" RELATED [GARD:0000432]
synonym: "arbovirus fever" EXACT [GARD:0000432]
xref: GARD:18690 {source="MONDO:GARD"}
xref: MEDGEN:1826163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3413 {source="GARD:0000432"}
xref: Orphanet:344 {source="MONDO:equivalentTo"}
xref: UMLS:C1388359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826163"}
is_a: MONDO:0005108 {source="Orphanet:344"} ! viral infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/432/arbovirosis" xsd:anyURI {source="GARD:0000432"}

[Term]
id: MONDO:0018094
name: Waardenburg syndrome
def: "A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." [Orphanet:3440]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5525", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1832"}
subset: ordo_disorder {source="Orphanet:3440"}
subset: orphanet_rare {source="Orphanet:3440"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mende syndrome" RELATED [GARD:0005525]
synonym: "Van der Hoeve Halbertsma Waardenburg Gualdi syndrome" RELATED [GARD:0005525]
synonym: "van der Hoeve Halbertsona Waardenburg syndrome" EXACT [DOID:9258]
synonym: "Waardenburg Shah syndrome" EXACT [DOID:9258]
synonym: "Waardenburg syndrome" EXACT CLINGEN_LABEL [DOID:9258]
synonym: "Waardenburg's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Waardenburg, types I and/or II" NARROW [DOID:9258]
xref: DOID:9258 {source="MONDO:equivalentTo"}
xref: GARD:5525 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:3440/index", source="Orphanet:3440/ntbt", source="Orphanet:3440"}
xref: MedDRA:10069203 {source="Orphanet:3440/e", source="Orphanet:3440"}
xref: MEDGEN:473809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014849 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:3440/e", source="MONDO:equivalentTo", source="DOID:9258", source="Orphanet:3440"}
xref: NCIT:C75008 {source="DOID:9258"}
xref: NCIT:C85222 {source="MONDO:equivalentTo", source="DOID:9258"}
xref: NORD:1832 {source="MONDO:NORD"}
xref: OMIMPS:193500 {source="MONDO:equivalentTo", source="DOID:9258"}
xref: Orphanet:3440 {source="MONDO:equivalentTo", source="DOID:9258"}
xref: Orphanet:895 {source="DOID:9258"}
xref: SCTID:47434006 {source="DOID:9258"}
xref: SCTID:715952000 {source="MONDO:equivalentTo"}
xref: UMLS:C3266898 {source="MONDO:equivalentTo", source="MEDGEN:473809", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:9258", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85222"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:3440"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: disease_has_feature HP:0002226 {source="Orphanet:3440"} ! White eyebrow
relationship: disease_has_feature HP:0002227 {source="Orphanet:3440"} ! White eyelashes
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0019290 {source="Orphanet:3440", source="https://orcid.org/0000-0001-5208-3432"} ! hypopigmentation of the skin
relationship: excluded_subClassOf MONDO:0020191 {source="Orphanet:3440", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes pigmentation anomaly
relationship: excluded_subClassOf MONDO:0020276 {source="Orphanet:3440", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pigmentation disorder with eye involvement, excluding albinism
relationship: has_characteristic HP:0000006 {source="Orphanet:3440"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:193500"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0018095
name: Weaver-Williams syndrome
def: "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." [Orphanet:3448]
subset: gard_rare {source="GARD:5545", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3448"}
subset: ordo_malformation_syndrome {source="Orphanet:3448"}
subset: orphanet_rare {source="Orphanet:3448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:5545 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:3448", source="Orphanet:3448/attributed", source="Orphanet:3448/ntbt"}
xref: MEDGEN:1392915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3448 {source="MONDO:equivalentTo"}
xref: UMLS:C0796198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392915"}
is_a: MONDO:0015159 {source="Orphanet:3448"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3448", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018096
name: Weill-Marchesani syndrome
def: "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." [Orphanet:3449]
subset: gard_rare {source="GARD:4936", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1842"}
subset: ordo_disorder {source="Orphanet:3449"}
subset: ordo_malformation_syndrome {source="Orphanet:3449"}
subset: orphanet_rare {source="Orphanet:3449"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital mesodermal dystrophy" EXACT [DOID:0050475]
synonym: "GEMSS syndrome" RELATED EXCLUDE [DOID:0050475]
synonym: "Marchesani-Weill syndrome" EXACT [DOID:0050475]
synonym: "mesodermal dysmorphodystrophy congenital" RELATED [GARD:0004936]
synonym: "mesodermal Dysmorphodystrophy, congenital" EXACT [DOID:0050475]
synonym: "spherophakia brachymorphia syndrome" EXACT [DOID:0050475]
synonym: "spherophakia-brachymorphia syndrome" EXACT [Orphanet:3449]
synonym: "Weill Marchesani Syndrome" EXACT [NORD:1842]
synonym: "WM syndrome" RELATED [GARD:0004936]
synonym: "WMS" RELATED ABBREVIATION [GARD:0004936]
xref: DOID:0050475 {source="MONDO:equivalentTo"}
xref: GARD:4936 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:3449", source="Orphanet:3449/index", source="Orphanet:3449/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10064963 {source="Orphanet:3449", source="Orphanet:3449/e"}
xref: MEDGEN:82705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056846 {source="DOID:0050475", source="MONDO:equivalentTo", source="Orphanet:3449", source="Orphanet:3449/e"}
xref: NCIT:C85226 {source="DOID:0050475", source="MONDO:equivalentTo"}
xref: NORD:1842 {source="MONDO:NORD"}
xref: OMIMPS:277600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:3449 {source="DOID:0050475", source="MONDO:equivalentTo"}
xref: SCTID:205801004 {source="DOID:0050475"}
xref: SCTID:2884008 {source="DOID:0050475", source="MONDO:equivalentTo"}
xref: UMLS:C0265313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82705"}
is_a: MONDO:0000429 {source="DOID:0050475"} ! autosomal genetic disease
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85226"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:3449"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019695 {source="Orphanet:3449", source="PMID:19396027"} ! acromelic dysplasia
relationship: excluded_subClassOf MONDO:0019066 {source="Orphanet:3449", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with brachydactyly
relationship: excluded_subClassOf MONDO:0020235 {source="Orphanet:3449", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens size anomaly
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:277600"} ! inherited

[Term]
id: MONDO:0018097
name: West syndrome
def: "West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development." [Orphanet:3451]
comment: Editor note: check placement of OMIM IDs and EIEE subtypes
subset: gard_rare {source="GARD:7887", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1848", source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:3451"}
subset: ordo_disorder {source="Orphanet:3451"}
subset: orphanet_rare {source="Orphanet:3451"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile spasms" EXACT [Orphanet:3451]
synonym: "Infantile spasms syndrome" RELATED [DOID:0050562]
synonym: "intellectual disability-hypsarrhythmia syndrome" EXACT [Orphanet:3451]
synonym: "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG" RELATED [GARD:0007887]
synonym: "West's syndrome" RELATED [GARD:0007887]
synonym: "X-linked infantile spasm syndrome" RELATED [GARD:0007887]
synonym: "X-linked infantile spasms" RELATED [GARD:0007887]
xref: DOID:0050562 {source="MONDO:equivalentTo"}
xref: GARD:7887 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:3451/ntbt", source="Orphanet:3451/inclusion", source="Orphanet:3451"}
xref: icd11.foundation:1023597213 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:3451"}
xref: ICD9:345.60 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10021750 {source="Orphanet:3451/e", source="Orphanet:3451"}
xref: MEDGEN:11519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200592 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200878 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84788 {source="MONDO:equivalentTo"}
xref: NORD:1848 {source="MONDO:NORD"}
xref: Orphanet:3451 {source="MONDO:equivalentTo"}
xref: SCTID:28055006 {source="MONDO:equivalentTo"}
xref: UMLS:C0037769 {source="MONDO:equivalentTo", source="MEDGEN:11519", source="MONDO:MEDGEN"}
is_a: MONDO:0000413 {source="DOID:0050562"} ! infancy electroclinical syndrome
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84788"} ! syndromic disease
is_a: MONDO:0100022 {source="Orphanet:3451", source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3451", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:3451", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/west-syndrome-overview.html" xsd:anyURI

[Term]
id: MONDO:0018098
name: autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
def: "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." [Orphanet:34517]
comment: Terminology notes: See comments for LGMD1D
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LGMD1E" EXACT ABBREVIATION [Orphanet:34517]
synonym: "limb-girdle muscular dystrophy type 1E" RELATED [GARD:0012529]
xref: DOID:0110305 {source="MONDO:relatedTo", source="MONDO:directSiblingOf"}
xref: ICD10CM:G71.0 {source="Orphanet:34517/attributed", source="Orphanet:34517/ntbt"}
xref: MEDGEN:929970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:34517 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4304301 {source="MEDGEN:929970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015151 {source="Orphanet:34517"} ! muscular dystrophy, limb-girdle, autosomal dominant
is_a: MONDO:0016187 {source="Orphanet:34517"} ! qualitative or quantitative defects of desmin

[Term]
id: MONDO:0018099
name: obsolete Whipple disease
is_obsolete: true
replaced_by: MONDO:0005116

[Term]
id: MONDO:0018100
name: familial primary hypomagnesemia
def: "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration." [NCIT:C123263]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial primary hypomagnesemia" EXACT [NCIT:C123263]
synonym: "HOMG" EXACT ABBREVIATION [DOID:0060879]
synonym: "hypomagnesemia" BROAD [OMIMPS:602014]
synonym: "primary familial hypomagnesemia" EXACT [DOID:0060879]
xref: DOID:0060879 {source="MONDO:equivalentTo"}
xref: ICD10CM:E83.4 {source="Orphanet:34526/attributed", source="Orphanet:34526/ntbt", source="Orphanet:34526", source="DOID:0060879"}
xref: MEDGEN:57481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123263 {source="MONDO:equivalentTo"}
xref: OMIMPS:602014 {source="MONDO:equivalentTo", source="DOID:0060879"}
xref: Orphanet:34526 {source="MONDO:equivalentObsolete", source="DOID:0060879"}
xref: SCTID:80710001 {source="MONDO:equivalentTo"}
xref: UMLS:C0151723 {source="MEDGEN:57481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C123263", source="Orphanet:34526/inferred"} ! hereditary disease
is_a: MONDO:0004689 {source="DOID:0060879"} ! inborn metal metabolism disorder
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:34526"} ! inherited renal tubular disease
is_a: MONDO:0017765 {source="Orphanet:34526"} ! disorder of magnesium transport
relationship: disease_has_feature HP:0002917 ! Hypomagnesemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:602014"} ! inherited

[Term]
id: MONDO:0018101
name: familial primary hypomagnesemia with normocalciuria and normocalcemia
def: "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." [Orphanet:34527]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: ICD10CM:E83.4 {source="Orphanet:34527/attributed", source="Orphanet:34527/ntbt", source="Orphanet:34527"}
xref: MEDGEN:1390277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:34527 {source="MONDO:equivalentObsolete"}
xref: SCTID:725031005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510731 {source="MEDGEN:1390277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017626 {source="Orphanet:34527"} ! familial primary hypomagnesemia with normocalcuria

[Term]
id: MONDO:0018102
name: corneal dystrophy
def: "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." [Orphanet:34533]
comment: Editor note: NCIT distinguishes between acquired and genetic
subset: disease_grouping
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:34533"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy" EXACT [MONDO:ambiguous]
synonym: "corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:2566 {source="MONDO:equivalentTo"}
xref: HP:0001131 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H18.5 {source="Orphanet:34533", source="DOID:2566", source="Orphanet:34533/e", source="Orphanet:34533/specific"}
xref: ICD10CM:H18.50 {source="DOID:2566"}
xref: icd11.foundation:1291475891 {source="Orphanet:34533", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:371.5 {source="DOID:2566"}
xref: ICD9:371.50 {source="DOID:2566"}
xref: MedDRA:10011005 {source="Orphanet:34533", source="Orphanet:34533/e"}
xref: MEDGEN:3619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003317 {source="Orphanet:34533", source="MONDO:equivalentTo", source="DOID:2566", source="Orphanet:34533/e"}
xref: NCIT:C34512 {source="DOID:2566"}
xref: NCIT:C34513 {source="MONDO:equivalentTo", source="DOID:2566"}
xref: Orphanet:34533 {source="MONDO:equivalentTo"}
xref: SCTID:193831005 {source="DOID:2566"}
xref: SCTID:193832003 {source="DOID:2566"}
xref: SCTID:193842001 {source="DOID:2566"}
xref: SCTID:5587004 {source="MONDO:equivalentTo", source="DOID:2566"}
xref: SCTID:77797009 {source="DOID:2566"}
xref: UMLS:C0010036 {source="MEDGEN:3619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="DOID:2566", source="MESH:D003317", source="NCIT:C34513/inferred"} ! corneal disorder
is_a: MONDO:0005328 {source="Orphanet:34533"} ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare
property_value: IAO:0000589 "corneal dystrophy (disease)" xsd:string

[Term]
id: MONDO:0018103
name: Quinquaud's folliculitis decalvans
def: "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts." [Orphanet:346]
subset: gard_rare {source="GARD:373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:346"}
subset: orphanet_rare {source="Orphanet:346"}
subset: rare
synonym: "folliculitis decalvans" RELATED [GARD:0000373]
synonym: "Quinquaud's decalvans folliculitis" RELATED [GARD:0000373]
synonym: "Quinquaud's disease" RELATED [GARD:0000373]
synonym: "Quinquaud’s disease" RELATED [GARD:0000373]
xref: GARD:373 {source="MONDO:GARD"}
xref: ICD10CM:L66.2 {source="Orphanet:346", source="Orphanet:346/e"}
xref: icd11.foundation:1454811046 {source="Orphanet:346", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:750617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:346 {source="MONDO:equivalentTo"}
xref: SCTID:53593008 {source="MONDO:equivalentTo"}
xref: UMLS:C2608043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:750617"}
is_a: MONDO:0004907 {source="Orphanet:346"} ! alopecia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/373/quinquauds-decalvans-folliculitis" xsd:anyURI {source="GARD:0000373"}

[Term]
id: MONDO:0018104
name: obsolete Torg-Winchester syndrome
comment: Reason: obsoleted in Orphanet, out of scope. Term to consider: MONDO:0010201.
xref: ICD10CM:M89.5 {source="Orphanet:3460/attributed", source="Orphanet:3460/ntbt", source="Orphanet:3460"}
xref: MESH:C536051 {source="Orphanet:3460/e", source="Orphanet:3460"}
xref: Orphanet:3460 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3949" xsd:anyURI
is_obsolete: true
consider: MONDO:0010201

[Term]
id: MONDO:0018105
name: Wolfram syndrome
def: "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." [Orphanet:3463]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7898", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3463"}
subset: orphanet_rare {source="Orphanet:3463"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome" EXACT [NCIT:C35133]
synonym: "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome" EXACT [Orphanet:3463]
synonym: "diabetes mellitus and insipidus with optic atrophy and deafness" EXACT [DOID:10632]
synonym: "DIDMOAD" EXACT ABBREVIATION [DOID:10632]
synonym: "DIDMOAD syndrome" EXACT [Orphanet:3463]
synonym: "WFS" EXACT ABBREVIATION [DOID:10632]
synonym: "Wolfram syndrome" EXACT CLINGEN_LABEL []
xref: DOID:10632 {source="MONDO:equivalentTo"}
xref: GARD:7898 {source="MONDO:GARD"}
xref: ICD10CM:E13.8 {source="Orphanet:3463", source="Orphanet:3463/attributed", source="Orphanet:3463/ntbt"}
xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014929 {source="DOID:10632", source="Orphanet:3463", source="MONDO:equivalentTo", source="Orphanet:3463/e"}
xref: NANDO:1200757 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35133 {source="DOID:10632", source="MONDO:equivalentTo"}
xref: Orphanet:3463 {source="DOID:10632", source="MONDO:equivalentTo"}
xref: SCTID:70694009 {source="DOID:10632", source="MONDO:equivalentTo"}
xref: UMLS:C0043207 {source="MEDGEN:21923", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:10632", source="MONDO:Redundant", source="NCIT:C35133"} ! syndromic disease
relationship: disease_has_feature HP:0000365 ! Hearing impairment
relationship: disease_has_feature HP:0000648 ! Optic atrophy
relationship: disease_has_feature HP:0000819 ! Diabetes mellitus
relationship: disease_has_feature MONDO:0005147 ! type 1 diabetes mellitus

[Term]
id: MONDO:0018106
name: hereditary xanthinuria
def: "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." [Orphanet:3467]
subset: gard_rare {source="GARD:16628", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3467"}
subset: orphanet_rare {source="Orphanet:3467"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic xanthinuria" EXACT [Orphanet:3467]
synonym: "hereditary xanthinuria" EXACT [MONDO:patterns/hereditary]
synonym: "xanthic urolithiasis" EXACT [Orphanet:3467]
synonym: "xanthine dehydrogenase deficiency" EXACT [DOID:0060236]
synonym: "xanthine oxidase deficiency" RELATED EXCLUDE [DOID:0060236]
synonym: "xanthine stone disease" EXACT [Orphanet:3467]
synonym: "xanthinuria" RELATED [DOID:0060236]
xref: DOID:0060236 {source="MONDO:equivalentTo"}
xref: GARD:16628 {source="MONDO:GARD"}
xref: HP:0010934 {source="MONDO:otherHierarchy", source="DOID:0060236"}
xref: ICD10CM:E79.8 {source="Orphanet:3467/inclusion", source="Orphanet:3467/ntbt", source="Orphanet:3467"}
xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1830243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562584 {source="DOID:0060236"}
xref: MESH:C566358 {source="DOID:0060236"}
xref: OMIMPS:278300 {source="MONDO:equivalentTo"}
xref: Orphanet:3467 {source="MONDO:equivalentTo", source="DOID:0060236"}
xref: SCTID:124147007 {source="DOID:0060236"}
xref: SCTID:54627004 {source="MONDO:equivalentTo"}
xref: SCTID:72682008 {source="DOID:0060236"}
xref: UMLS:C5779508 {source="MONDO:equivalentTo", source="MEDGEN:1830243", source="MONDO:MEDGEN"}
is_a: MONDO:0000721 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! xanthinuria
is_a: MONDO:0019236 {source="Orphanet:3467"} ! inborn disorder of purine metabolism
intersection_of: MONDO:0000721 ! xanthinuria
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:3467", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:278300"} ! inherited

[Term]
id: MONDO:0018107
name: obsolete idiopathic recurrent and disabling cutaneous herpes
xref: ICD10CM:B00.1 {source="Orphanet:35061/ntbt", source="Orphanet:35061"}
xref: Orphanet:35061 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6929" xsd:anyURI
is_obsolete: true
consider: MONDO:0017381

[Term]
id: MONDO:0018108
name: idiopathic disseminated cytomegalovirus infection
subset: gard_rare {source="GARD:18811", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35062"}
subset: orphanet_rare {source="Orphanet:35062"}
subset: rare
synonym: "idiopathic disseminated CMV infection" EXACT [Orphanet:35062]
xref: GARD:18811 {source="MONDO:GARD"}
xref: ICD10CM:B25.8 {source="Orphanet:35062", source="Orphanet:35062/ntbt"}
xref: MEDGEN:1826159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:35062 {source="MONDO:equivalentTo"}
xref: UMLS:C5680152 {source="MEDGEN:1826159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="Orphanet:35062"} ! viral infectious disease
is_a: MONDO:0005132 {source="https://orcid.org/0000-0002-6601-2165"} ! cytomegalovirus infection
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018109
name: fulminant viral hepatitis
def: "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." [Orphanet:35063]
subset: gard_rare {source="GARD:18812", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35063"}
subset: orphanet_rare {source="Orphanet:35063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18812 {source="MONDO:GARD"}
xref: ICD10CM:K72 {source="Orphanet:35063", source="Orphanet:35063/ntbt"}
xref: MedDRA:10019772
xref: MEDGEN:547442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:35063 {source="MONDO:equivalentTo"}
xref: UMLS:C0276624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547442"}
is_a: MONDO:0002251 {source="https://orcid.org/0000-0001-5208-3432"} ! hepatitis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4614" xsd:anyURI

[Term]
id: MONDO:0018110
name: obsolete lethal idiopathic viral infection
xref: Orphanet:35064 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6927" xsd:anyURI
is_obsolete: true
consider: MONDO:0005108

[Term]
id: MONDO:0018111
name: idiopathic severe pneumococcemia
xref: ICD10CM:A40.3 {source="Orphanet:35065", source="Orphanet:35065/ntbt"}
xref: Orphanet:35065 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0005113 {source="Orphanet:35065"} ! bacterial infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018112
name: obsolete isolated scaphocephaly
def: "OBSOLETE. Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." [Orphanet:35093]
subset: ordo_disorder {source="Orphanet:35093"}
subset: otar {source="MONDO:OTAR"}
synonym: "isolated dolichocephaly" EXACT [Orphanet:35093]
synonym: "non-syndromic sagittal synostosis" EXACT [Orphanet:35093]
xref: GARD:16633 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q75.0 {source="Orphanet:35093/attributed", source="Orphanet:35093/ntbt", source="Orphanet:35093"}
xref: NANDO:2201302 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:35093 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018113
name: obsolete isolated plagiocephaly
def: "OBSOLETE. Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." [Orphanet:35098]
subset: otar {source="MONDO:OTAR"}
synonym: "non-syndromic unicoronal synostosis" EXACT [Orphanet:35098]
synonym: "synostotic plagiocephaly" EXACT [Orphanet:35098]
xref: ICD10CM:Q67.3 {source="Orphanet:35098/specific", source="Orphanet:35098", source="Orphanet:35098/e"}
xref: Orphanet:35098 {source="MONDO:obsoleteEquivalentObsolete"}
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018114
name: obsolete isolated brachycephaly
def: "OBSOLETE. Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." [Orphanet:35099]
subset: ordo_disorder {source="Orphanet:35099"}
subset: otar {source="MONDO:OTAR"}
synonym: "non-syndromic bicoronal synostosis" EXACT [Orphanet:35099]
xref: GARD:16634 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q75.0 {source="Orphanet:35099/attributed", source="Orphanet:35099/ntbt", source="Orphanet:35099"}
xref: Orphanet:35099 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018115
name: epidermal nevus syndrome
def: "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." [MESH:D054000]
subset: gard_rare {source="GARD:18813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35125"}
subset: orphanet_rare {source="Orphanet:35125"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Epidermal hamartoma syndrome" EXACT [Orphanet:35125]
xref: GARD:18813 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:35125/attributed", source="Orphanet:35125/ntbt", source="Orphanet:35125"}
xref: MedDRA:10014985 {source="Orphanet:35125/e", source="Orphanet:35125"}
xref: MESH:C536114 {source="Orphanet:35125/e", source="Orphanet:35125"}
xref: MESH:D054000 {source="Orphanet:35125/e", source="Orphanet:35125"}
xref: Orphanet:35125 {source="MONDO:equivalentTo"}
xref: SCTID:239112008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005073 {source="Orphanet:35125", source="https://orcid.org/0000-0001-5208-3432"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4222" xsd:anyURI

[Term]
id: MONDO:0018116
name: galactosemia
def: "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form." [Orphanet:352]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:2424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1170"}
subset: ordo_group_of_disorders {source="Orphanet:352"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "galactosaemia" EXACT [DOID:9870]
synonym: "galactose intolerance" EXACT [DOID:9870]
synonym: "galactosemia" EXACT [MONDO:0004908]
xref: DOID:9870 {source="MONDO:equivalentTo"}
xref: GARD:2424 {source="MONDO:GARD"}
xref: ICD10CM:E74.2 {source="Orphanet:352/inclusion", source="Orphanet:352/ntbt", source="Orphanet:352"}
xref: ICD10CM:E74.21 {source="DOID:9870"}
xref: ICD9:271.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9870"}
xref: MedDRA:10017604 {source="Orphanet:352/e", source="Orphanet:352"}
xref: MEDGEN:8943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005693 {source="Orphanet:352/e", source="MONDO:equivalentTo", source="DOID:9870", source="Orphanet:352"}
xref: NCIT:C84723 {source="MONDO:equivalentTo", source="DOID:9870"}
xref: NORD:1170 {source="MONDO:NORD"}
xref: OMIMPS:230400 {source="MONDO:equivalentTo"}
xref: Orphanet:352 {source="MONDO:equivalentTo"}
xref: SCTID:154738008 {source="DOID:9870"}
xref: SCTID:190745006 {source="MONDO:equivalentTo", source="DOID:9870"}
xref: SCTID:190747003 {source="DOID:9870"}
xref: SCTID:190749000 {source="MONDO:relatedTo", source="DOID:9870"}
xref: SCTID:267498002 {source="DOID:9870"}
xref: SCTID:38177000 {source="DOID:9870"}
xref: UMLS:C0016952 {source="MEDGEN:8943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0017690 {source="Orphanet:352"} ! disorder of galactose metabolism
is_a: MONDO:0019052 {source="DOID:9870/inferred", source="MESH:D005693/inferred", source="MONDO:Redundant", source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn errors of metabolism
is_a: MONDO:0019214 {source="DOID:9870", source="MESH:D005693", source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn carbohydrate metabolic disorder
relationship: disease_has_feature MONDO:0005066 ! metabolic disease
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:352", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:230400"} ! inherited

[Term]
id: MONDO:0018117
name: disorder of phospholipids, sphingolipids and fatty acids biosynthesis
subset: disease_grouping
subset: gard_rare {source="GARD:21516", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:352301"}
subset: rare
xref: GARD:21516 {source="MONDO:GARD"}
xref: MEDGEN:1843236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352301 {source="MONDO:equivalentTo"}
xref: UMLS:C5680990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843236"}
is_a: MONDO:0002525 {source="Orphanet:352301"} ! inherited lipid metabolism disorder

[Term]
id: MONDO:0018118
name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:352306"}
xref: GARD:21517 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:352306 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002525

[Term]
id: MONDO:0018119
name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:352309"}
xref: GARD:21518 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:352309 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002525

[Term]
id: MONDO:0018120
name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:352312"}
xref: GARD:21519 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:352312 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002525

[Term]
id: MONDO:0018121
name: mitochondrial DNA maintenance syndrome
def: "An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:21520", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:352456"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inborn error of mitochondrial genome maintenance" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn mitochondrial genome maintenance disorder" EXACT []
synonym: "mtDNA maintenance syndrome" EXACT [Orphanet:352456]
synonym: "rare inborn error of mitochondrial genome maintenance" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:21520 {source="MONDO:GARD"}
xref: MEDGEN:1826064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352456 {source="MONDO:equivalentTo"}
xref: UMLS:C5679930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826064"}
is_a: MONDO:0016387 {source="Orphanet:352456"} ! mitochondrial oxidative phosphorylation disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0000002 ! mitochondrial genome maintenance

[Term]
id: MONDO:0018122
name: digital anomalies-intellectual disability-short stature syndrome
xref: ICD10CM:Q87.2 {source="Orphanet:352487/attributed", source="Orphanet:352487/ntbt", source="Orphanet:352487"}
xref: Orphanet:352487 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:352487", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0018123
name: intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
def: "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." [Orphanet:352530]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:21521", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352530"}
subset: orphanet_rare {source="Orphanet:352530"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive intellectual disability due to TRAPPC9 deficiency" EXACT [Orphanet:352530]
synonym: "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" EXACT CLINGEN_LABEL []
xref: GARD:21521 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:352530/attributed", source="Orphanet:352530/ntbt", source="Orphanet:352530"}
xref: MEDGEN:1644787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352530 {source="MONDO:equivalentTo"}
xref: UMLS:C4706414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644787"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:352530", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018124
name: Oncogenic osteomalacia
def: "Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed." [https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia]
subset: gard_rare {source="GARD:9652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352540"}
subset: orphanet_rare {source="Orphanet:352540"}
subset: rare
synonym: "Oncogenic hypophosphatemic osteomalacia" EXACT [Orphanet:352540]
synonym: "OO" RELATED ABBREVIATION [GARD:0009652]
synonym: "OOM" RELATED ABBREVIATION [GARD:0009652]
synonym: "TIO" EXACT ABBREVIATION [Orphanet:352540]
synonym: "tumor-induced osteomalacia" EXACT [Orphanet:352540]
xref: GARD:9652 {source="MONDO:GARD"}
xref: ICD10CM:M83.8 {source="Orphanet:352540", source="Orphanet:352540/ntbt"}
xref: MEDGEN:226893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537751 {source="MONDO:equivalentTo"}
xref: NCIT:C67235 {source="MONDO:equivalentTo"}
xref: Orphanet:352540 {source="MONDO:equivalentTo"}
xref: SCTID:392559009 {source="MONDO:equivalentTo"}
xref: UMLS:C1274103 {source="MEDGEN:226893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001068 {source="NCIT:C67235"} ! osteomalacia
is_a: MONDO:0005151 {source="MONDO:0019061-obsoleted"} ! endocrine system disorder
is_a: MONDO:0005381 {source="MONDO:Redundant", source="Orphanet:352540"} ! bone disorder
is_a: MONDO:0021073 {source="NCIT:C67235"} ! paraneoplastic syndrome
is_a: MONDO:0700255 {source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic renal syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019684"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia" xsd:anyURI {source="GARD:0009652"}

[Term]
id: MONDO:0018125
name: focal epilepsy-intellectual disability-cerebro-cerebellar malformation
def: "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed." [Orphanet:352587]
subset: gard_rare {source="GARD:21522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352587"}
subset: orphanet_rare {source="Orphanet:352587"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "focal epilepsy-intellectual disability-dysarthria-ataxia syndrome" EXACT [Orphanet:352587]
xref: GARD:21522 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:352587", source="Orphanet:352587/attributed", source="Orphanet:352587/ntbt"}
xref: MEDGEN:1640999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352587 {source="MONDO:equivalentTo"}
xref: UMLS:C4707306 {source="MEDGEN:1640999", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015653 {source="Orphanet:352587"} ! monogenic epilepsy

[Term]
id: MONDO:0018126
name: progressive myoclonic epilepsy with dystonia
def: "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli." [Orphanet:352596]
subset: gard_rare {source="GARD:17522", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352596"}
subset: orphanet_rare {source="Orphanet:352596"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PMED" EXACT ABBREVIATION [Orphanet:352596]
synonym: "progressive myoclonus epilepsy with dystonia" EXACT [Orphanet:352596]
xref: GARD:17522 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:352596/attributed", source="Orphanet:352596/ntbt", source="Orphanet:352596"}
xref: MEDGEN:1642042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352596 {source="MONDO:equivalentTo"}
xref: SCTID:763349002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706413 {source="MEDGEN:1642042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020071 {source="Orphanet:352596"} ! infantile epilepsy syndrome
relationship: has_characteristic HP:0003593 {source="Orphanet:352596"} ! Infantile onset

[Term]
id: MONDO:0018127
name: 16q24.1 microdeletion syndrome
def: "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects)." [Orphanet:352629]
subset: gard_rare {source="GARD:21523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352629"}
subset: orphanet_rare {source="Orphanet:352629"}
subset: rare
synonym: "Del(16)(q24.1)" EXACT [Orphanet:352629]
synonym: "monosomy 16q24.1" EXACT [Orphanet:352629]
xref: GARD:21523 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:352629/attributed", source="Orphanet:352629/ntbt", source="Orphanet:352629"}
xref: MEDGEN:1653385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352629 {source="MONDO:equivalentTo"}
xref: UMLS:C4749464 {source="MONDO:equivalentTo", source="MEDGEN:1653385", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:352629", source="Orphanet:352629/inferred"} ! respiratory system disorder
is_a: MONDO:0016914 {source="Orphanet:352629"} ! partial deletion of the long arm of chromosome 16
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16q24.1 ! 16q24.1 (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018128
name: phalangeal microgeodic syndrome
def: "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." [Orphanet:352636]
subset: gard_rare {source="GARD:21524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352636"}
subset: orphanet_rare {source="Orphanet:352636"}
subset: rare
synonym: "phalangeal osteolysis" EXACT [Orphanet:352636]
xref: GARD:21524 {source="MONDO:GARD"}
xref: ICD10CM:M89.5 {source="Orphanet:352636", source="Orphanet:352636/attributed", source="Orphanet:352636/ntbt"}
xref: MEDGEN:1658987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352636 {source="MONDO:equivalentTo"}
xref: UMLS:C4749465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1658987"}
is_a: MONDO:0019707 {source="Orphanet:352636"} ! primary osteolysis

[Term]
id: MONDO:0018129
name: autosomal recessive cerebellar ataxia with late-onset spasticity
def: "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." [Orphanet:352641]
subset: gard_rare {source="GARD:21525", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352641"}
subset: orphanet_rare {source="Orphanet:352641"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive cerebellar ataxia due to GBA2 deficiency" EXACT [Orphanet:352641]
xref: GARD:21525 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:352641/attributed", source="Orphanet:352641/ntbt", source="Orphanet:352641"}
xref: MEDGEN:1635411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352641 {source="MONDO:equivalentTo"}
xref: SCTID:763348005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706412 {source="MONDO:equivalentTo", source="MEDGEN:1635411", source="MONDO:MEDGEN"}
is_a: MONDO:0019255 {source="Orphanet:352641"} ! sphingolipidosis
is_a: MONDO:0020044 {source="Orphanet:352641"} ! autosomal recessive metabolic cerebellar ataxia

[Term]
id: MONDO:0018130
name: brain dopamine-serotonin vesicular transport disease
def: "An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." [https://orcid.org/0000-0001-5208-3432, Orphanet:352649]
subset: gard_rare {source="GARD:13594", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352649"}
subset: orphanet_rare {source="Orphanet:352649"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "parkinsonism-dystonia, infantile, 2" EXACT [OMIM:618049]
synonym: "PKDYS2" EXACT ABBREVIATION [OMIM:618049]
xref: DOID:0070490 {source="MONDO:equivalentTo"}
xref: GARD:13594 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="Orphanet:352649/attributed", source="Orphanet:352649/ntbt", source="Orphanet:352649"}
xref: MEDGEN:929215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618049 {source="MONDO:equivalentTo"}
xref: Orphanet:352649 {source="MONDO:equivalentTo"}
xref: SCTID:717942003 {source="MONDO:equivalentTo"}
xref: UMLS:C4303546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929215"}
is_a: MONDO:0013150 {source="OMIM:618049"} ! parkinsonism-dystonia, infantile
is_a: MONDO:0019219 {source="Orphanet:352649", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of neurotransmitter metabolism and transport
relationship: excluded_subClassOf MONDO:0018329 {source="Orphanet:352649", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete persistent combined dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6933" xsd:anyURI

[Term]
id: MONDO:0018131
name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
subset: gard_rare {source="GARD:21526", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:352665"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:352665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "9q21 microdeletion syndrome" EXACT [Orphanet:352665]
synonym: "Del(9)(q21)" EXACT [Orphanet:352665]
xref: GARD:21526 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:352665", source="Orphanet:352665/attributed", source="Orphanet:352665/ntbt"}
xref: MEDGEN:1842292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352665 {source="MONDO:equivalentTo"}
xref: UMLS:C5679925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842292"}
is_a: MONDO:0016908 {source="Orphanet:352665"} ! partial monosomy of the long arm of chromosome 9
is_a: MONDO:0018681 {source="Orphanet:352665"} ! neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
relationship: disease_arises_from_structure CHR:9606-chr9q21 {source="https://orcid.org/0000-0002-4142-7153"} ! 9q21 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018132
name: obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
def: "OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." [Orphanet:352687]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: muscular dystrophy-dystroglycanopathy'
subset: ordo_group_of_disorders {source="Orphanet:352687"}
synonym: "lissencephaly type 2 with muscular and ocular involvement" EXACT [Orphanet:352687]
synonym: "MDDGA" EXACT ABBREVIATION [Orphanet:352687]
xref: DOID:0111229 {source="MONDO:obsoleteEquivalent"}
xref: GARD:12588 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:352687 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies" xsd:anyURI {source="GARD:0012588"}
is_obsolete: true
consider: MONDO:0018276

[Term]
id: MONDO:0018133
name: attenuated Chédiak-Higashi syndrome
def: "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." [Orphanet:352723]
subset: gard_rare {source="GARD:21527", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352723"}
subset: orphanet_rare {source="Orphanet:352723"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "attenuated Chediak-Higashi syndrome" EXACT [Orphanet:352723]
synonym: "atypical Chediak-Higashi syndrome" EXACT [Orphanet:352723]
synonym: "atypical Chédiak-Higashi syndrome" EXACT [Orphanet:352723]
xref: GARD:21527 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:352723/attributed", source="Orphanet:352723/ntbt", source="Orphanet:352723"}
xref: MEDGEN:929691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352723 {source="MONDO:equivalentTo"}
xref: SCTID:720520009 {source="MONDO:equivalentTo"}
xref: UMLS:C4304022 {source="MEDGEN:929691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020127 {source="MONDO:0016132-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0024237 {source="Orphanet:352723"} ! inherited neurodegenerative disorder

[Term]
id: MONDO:0018134
name: disorder of melanin metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21528", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:352728"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21528 {source="MONDO:GARD"}
xref: MEDGEN:1842889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352728 {source="MONDO:equivalentTo"}
xref: UMLS:C5680988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842889"}
is_a: MONDO:0019189 {source="Orphanet:352728"} ! inborn disorder of amino acid and other organic acid metabolism

[Term]
id: MONDO:0018135
name: oculocutaneous albinism type 1
def: "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)." [Orphanet:352731]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4037", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:352731"}
subset: orphanet_rare {source="Orphanet:352731"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATN" RELATED ABBREVIATION [GARD:0004037]
synonym: "OCA1" EXACT ABBREVIATION [Orphanet:352731]
synonym: "oculocutaneous albinism type 1" EXACT CLINGEN_LABEL []
synonym: "oculocutaneous albinism, tyrosinase negative" RELATED [GARD:0004037]
xref: GARD:4037 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:352731", source="Orphanet:352731/attributed", source="Orphanet:352731/ntbt"}
xref: MEDGEN:82809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537728 {source="MONDO:equivalentTo"}
xref: Orphanet:352731 {source="MONDO:equivalentTo"}
xref: SCTID:765146000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268494 {source="MEDGEN:82809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017307 {source="PMID:33340416"} ! disorder of tyrosine metabolism
is_a: MONDO:0018910 {source="Orphanet:352731"} ! oculocutaneous albinism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0018136
name: minimal pigment oculocutaneous albinism type 1
def: "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." [Orphanet:352734]
subset: gard_rare {source="GARD:21529", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:352734"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MP OCA type 1" EXACT [Orphanet:352734]
synonym: "OCA1-MP" EXACT [Orphanet:352734]
xref: GARD:21529 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:352734/attributed", source="Orphanet:352734/ntbt", source="Orphanet:352734"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1842241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352734 {source="MONDO:equivalentTo"}
xref: SCTID:237919007 {source="MONDO:equivalentTo"}
xref: UMLS:C5679923 {source="MEDGEN:1842241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018135 {source="Orphanet:352734"} ! oculocutaneous albinism type 1

[Term]
id: MONDO:0018137
name: temperature-sensitive oculocutaneous albinism type 1
def: "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." [Orphanet:352737]
subset: gard_rare {source="GARD:17530", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:352737"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OCA1-TS" EXACT [Orphanet:352737]
synonym: "TS OCA type 1" EXACT [Orphanet:352737]
xref: GARD:17530 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:352737/attributed", source="Orphanet:352737/ntbt", source="Orphanet:352737"}
xref: MEDGEN:337736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:352737 {source="MONDO:equivalentTo"}
xref: UMLS:C1847132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337736"}
is_a: MONDO:0018135 {source="Orphanet:352737"} ! oculocutaneous albinism type 1

[Term]
id: MONDO:0018138
name: obsolete ocular albinism with congenital sensorineural hearing loss
synonym: "albinism, ocular, with sensorineural deafness" NARROW [OMIM:103470]
synonym: "autosomal recessive Waardenburg syndrome type 2 with ocular albinism" EXACT [DOID:0090100]
synonym: "digenic Waardenburg syndrome/albinism" EXACT [DOID:0090100]
synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT [DOID:0090100]
synonym: "ocular albinism with congenital sensorineural deafness" NARROW [Orphanet:352740]
synonym: "ocular albinism with sensorineural deafness" NARROW [MONDO:0007076]
synonym: "Waardenburg syndrome type 2 with ocular albinism" EXACT [Orphanet:352740]
synonym: "Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive" RELATED [OMIM:103470]
synonym: "Waardenburg syndrome/albinism, digenic" EXACT [OMIM:103470, OMIM:genemap2]
synonym: "Waardenburg syndrome/ocular albinism, digenic" EXACT [OMIM:103470, OMIM:genemap2]
synonym: "WS2-OA" EXACT [DOID:0090100]
xref: DOID:0090100 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E70.3 {source="Orphanet:352740/attributed", source="Orphanet:352740/ntbt", source="DOID:0090100", source="Orphanet:352740"}
xref: OMIM:103470 {source="DOID:0090100", source="Orphanet:352740", source="Orphanet:352740/e", source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:352740 {source="OMIM:103470", source="DOID:0090100", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4581" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI
is_obsolete: true
consider: MONDO:0008671
consider: MONDO:0011749

[Term]
id: MONDO:0018139
name: obsolete scleredema
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3847" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006606

[Term]
id: MONDO:0018140
name: obsolete burning mouth syndrome
is_obsolete: true
replaced_by: MONDO:0006687

[Term]
id: MONDO:0018141
name: pyruvate carboxylase deficiency, infantile form
def: "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." [Orphanet:353308]
subset: gard_rare {source="GARD:17536", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:353308"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pyruvate carboxylase deficiency type A" EXACT [Orphanet:353308]
synonym: "pyruvate carboxylase deficiency, infantile type" RELATED [Orphanet:353308]
xref: GARD:17536 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:353308/attributed", source="Orphanet:353308/ntbt", source="Orphanet:353308"}
xref: MEDGEN:1842180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:353308 {source="MONDO:equivalentTo"}
xref: UMLS:C5679928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842180"}
is_a: MONDO:0009949 {source="Orphanet:353308"} ! pyruvate carboxylase deficiency disease
is_a: MONDO:0019225 {source="PMID:33340416"} ! disorder of gluconeogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0018142
name: pyruvate carboxylase deficiency, severe neonatal type
def: "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." [Orphanet:353314]
subset: gard_rare {source="GARD:17537", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:353314"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pyruvate carboxylase deficiency type B" EXACT [Orphanet:353314]
xref: GARD:17537 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:353314", source="Orphanet:353314/attributed", source="Orphanet:353314/ntbt"}
xref: MEDGEN:1842956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:353314 {source="MONDO:equivalentTo"}
xref: UMLS:C5679929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842956"}
is_a: MONDO:0009949 {source="Orphanet:353314"} ! pyruvate carboxylase deficiency disease
is_a: MONDO:0019225 {source="PMID:33340416"} ! disorder of gluconeogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0018143
name: pyruvate carboxylase deficiency, benign type
def: "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." [Orphanet:353320]
subset: gard_rare {source="GARD:17538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:353320"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pyruvate carboxylase deficiency type C" EXACT [Orphanet:353320]
xref: GARD:17538 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:353320/attributed", source="Orphanet:353320/ntbt", source="Orphanet:353320"}
xref: MEDGEN:1842785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:353320 {source="MONDO:equivalentTo"}
xref: UMLS:C5679927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842785"}
is_a: MONDO:0009949 {source="Orphanet:353320"} ! pyruvate carboxylase deficiency disease
is_a: MONDO:0019225 {source="PMID:33340416"} ! disorder of gluconeogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0018144
name: obsolete congenital myasthenic syndromes with glycosylation defect
subset: ordo_subtype_of_a_disorder {source="Orphanet:353327"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17539 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G70.2 {source="Orphanet:353327", source="Orphanet:353327/attributed", source="Orphanet:353327/ntbt"}
xref: Orphanet:353327 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018145
name: congenital retinal arteriovenous communication
subset: gard_rare {source="GARD:21530", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:353334"}
subset: ordo_morphological_anomaly {source="Orphanet:353334"}
subset: orphanet_rare {source="Orphanet:353334"}
subset: rare
synonym: "congenital arteriovenous anastomoses of the retina" EXACT [Orphanet:353334]
synonym: "congenital arteriovenous communication of the retina" EXACT [Orphanet:353334]
synonym: "congenital retinal arteriovenous anastomoses" EXACT [Orphanet:353334]
xref: GARD:21530 {source="MONDO:GARD"}
xref: ICD10CM:Q14.8 {source="Orphanet:353334/ntbt", source="Orphanet:353334"}
xref: MEDGEN:105478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:353334 {source="MONDO:equivalentTo"}
xref: UMLS:C0521570 {source="MEDGEN:105478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005283 {source="https://orcid.org/0000-0002-4142-7153"} ! retinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0018146
name: idiopathic macular telangiectasia type 1
def: "A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates." [Orphanet:353344]
subset: gard_rare {source="GARD:21531", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:353344"}
subset: orphanet_rare {source="Orphanet:353344"}
subset: rare
synonym: "aneurysmal telangiectasia" EXACT [Orphanet:353344]
synonym: "visible and exudative idiopathic juxtafoveolar retinal telangiectasis" EXACT [Orphanet:353344]
xref: GARD:21531 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:353344/ntbt", source="MONDO:relatedTo", source="Orphanet:353344"}
xref: MEDGEN:1653394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:353344 {source="MONDO:equivalentTo"}
xref: UMLS:C4751437 {source="MEDGEN:1653394", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="Orphanet:353344"} ! eye disorder
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018147
name: idiopathic macular telangiectasia type 3
def: "A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease." [https://orcid.org/0000-0001-5208-3432, Orphanet:353351]
subset: gard_rare {source="GARD:21532", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:353351"}
subset: orphanet_rare {source="Orphanet:353351"}
subset: rare
synonym: "occlusive idiopathic juxtafoveolar retinal telangiectasis" EXACT [Orphanet:353351]
xref: GARD:21532 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:353351", source="MONDO:relatedTo", source="Orphanet:353351/ntbt"}
xref: MEDGEN:1658435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:353351 {source="MONDO:equivalentTo"}
xref: UMLS:C4751436 {source="MEDGEN:1658435", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="Orphanet:353351"} ! eye disorder
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018148
name: vasoproliferative tumor of retina
def: "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported." [Orphanet:353356]
subset: gard_rare {source="GARD:21533", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:353356"}
subset: orphanet_rare {source="Orphanet:353356"}
subset: rare
synonym: "retinal vasoproliferative tumor" EXACT [Orphanet:353356]
synonym: "retinal vasoproliferative tumour" EXACT OMO:0003005 []
synonym: "vasoproliferative tumor of ocular fundus" EXACT [Orphanet:353356]
synonym: "vasoproliferative tumor of the ocular fundus" EXACT [Orphanet:353356]
synonym: "vasoproliferative tumor of the retina" RELATED [Orphanet:353356]
synonym: "vasoproliferative tumour of ocular fundus" EXACT OMO:0003005 []
synonym: "vasoproliferative tumour of the ocular fundus" EXACT OMO:0003005 []
synonym: "vasoproliferative tumour of the retina" RELATED OMO:0003005 []
synonym: "VPTR" EXACT ABBREVIATION [Orphanet:353356]
xref: GARD:21533 {source="MONDO:GARD"}
xref: ICD10CM:D31.2 {source="Orphanet:353356/ntbt", source="Orphanet:353356"}
xref: MEDGEN:1652844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:353356 {source="MONDO:equivalentTo"}
xref: UMLS:C4749792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1652844"}
is_a: MONDO:0002311 {source="Orphanet:353356", source="https://orcid.org/0000-0001-5208-3432"} ! retinal vascular disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120", source="MONDO:0019110"} ! rare

[Term]
id: MONDO:0018149
name: GM1 gangliosidosis
def: "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." [Orphanet:354]
subset: gard_rare {source="GARD:10891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:354"}
subset: orphanet_rare {source="Orphanet:354"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta galactosidase 1 deficiency" RELATED [GARD:0010891]
synonym: "Beta-galactosidase deficiency" EXACT [DOID:3322]
synonym: "beta-galactosidase deficiency" EXACT [DOID:3322]
synonym: "Beta-galactosidase-1 deficiency" EXACT [Orphanet:354]
synonym: "Beta-galactosidosis" RELATED [GARD:0010891]
synonym: "deficiency of beta-galactosidase" EXACT [DOID:3322]
synonym: "gangliosidosis GM1" EXACT [MONDO:0002609]
synonym: "GLB 1 deficiency" RELATED [GARD:0010891]
synonym: "GLB1 deficiency" EXACT [Orphanet:354]
synonym: "GM>1< gangliosidosis" EXACT [DOID:3322]
synonym: "Landing disease" EXACT [Orphanet:354]
synonym: "Landing syndrome" EXACT [DOID:3322]
xref: DOID:3322 {source="MONDO:equivalentTo"}
xref: GARD:10891 {source="MONDO:GARD"}
xref: ICD10CM:E75.1 {source="Orphanet:354/ntbt", source="Orphanet:354/inclusion", source="Orphanet:354"}
xref: ICD10CM:E75.19 {source="DOID:3322"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:43107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016537 {source="DOID:3322", source="Orphanet:354/e", source="MONDO:equivalentTo", source="Orphanet:354"}
xref: NANDO:1200066 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200558 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84739 {source="DOID:3322", source="MONDO:equivalentTo"}
xref: Orphanet:354 {source="MONDO:equivalentTo"}
xref: SCTID:124465002 {source="MONDO:equivalentTo"}
xref: SCTID:238025006 {source="DOID:3322"}
xref: SCTID:32917001 {source="DOID:3322"}
xref: UMLS:C0085131 {source="MEDGEN:43107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="DOID:3322/inferred", source="MESH:D016537/inferred", source="MONDO:Redundant", source="NCIT:C84739", source="Orphanet:354/inferred", source="PMID:21723623"} ! lysosomal storage disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0017719 {source="DOID:3322", source="Orphanet:354"} ! gangliosidosis
relationship: disease_has_basis_in_disruption_of GO:0004565 {source="PMID:21723623"} ! beta-galactosidase activity
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="PMID:29884839"} ! GLB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI

[Term]
id: MONDO:0018150
name: Gaucher disease
def: "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." [Orphanet:355]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1177"}
subset: ordo_disorder {source="Orphanet:355"}
subset: orphanet_rare {source="Orphanet:355"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acid beta-glucosidase deficiency" EXACT [DOID:1926, Orphanet:355]
synonym: "acute cerebral Gaucher disease" NARROW [GARD:0008233]
synonym: "cerebroside lipidosis syndrome" RELATED []
synonym: "Gaucher disease" EXACT CLINGEN_LABEL [DOID:1926]
synonym: "Gaucher splenomegaly" RELATED []
synonym: "Gaucher syndrome" EXACT []
synonym: "Gaucher's disease" EXACT [DOID:1926]
synonym: "glocucerebrosidase deficiency" EXACT [DOID:1926]
synonym: "glucocerebrosidase deficiency" EXACT [Orphanet:355]
synonym: "glucocerebrosidosis" EXACT []
synonym: "glucosyl cerebroside lipidosis" RELATED [GARD:0008233]
synonym: "glucosylceramidase deficiency" EXACT []
synonym: "glucosylceramide beta-glucosidase deficiency" EXACT [DOID:1926]
synonym: "kerasin histiocytosis" RELATED []
synonym: "kerasin lipoidosis" RELATED []
synonym: "kerasin thesaurismosis" EXACT [DOID:1926]
synonym: "lipoid histiocytosis" RELATED EXCLUDE [DOID:1926]
synonym: "lipoid histiocytosis (kerasin type)" EXACT [DOID:1926]
synonym: "sphingolipidosis 1" RELATED [GARD:0008233]
xref: DOID:1926 {source="MONDO:equivalentTo"}
xref: GARD:8233 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:355/ntbt", source="Orphanet:355/inclusion", source="Orphanet:355"}
xref: ICD10CM:E75.22 {source="MONDO:equivalentTo", source="DOID:1926"}
xref: MedDRA:10018048 {source="Orphanet:355/e", source="Orphanet:355"}
xref: MEDGEN:42164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005776 {source="Orphanet:355/e", source="MONDO:equivalentTo", source="DOID:1926", source="Orphanet:355"}
xref: NANDO:1200056 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200562 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61268 {source="MONDO:equivalentTo", source="DOID:1926"}
xref: NORD:1177 {source="MONDO:NORD"}
xref: Orphanet:355 {source="MONDO:equivalentTo", source="DOID:1926"}
xref: SCTID:180485001 {source="DOID:1926"}
xref: SCTID:190794006 {source="MONDO:equivalentTo", source="DOID:1926"}
xref: SCTID:2859005 {source="DOID:1926"}
xref: SCTID:62201009 {source="DOID:1926"}
xref: UMLS:C0017205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42164"}
is_a: MONDO:0002561 {source="DOID:1926/inferred", source="MESH:D005776/inferred", source="MONDO:Redundant", source="NCIT:C61268", source="Orphanet:355/inferred"} ! lysosomal storage disease
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0019255 {source="DOID:1926", source="MESH:D005776", source="NCIT:C61268", source="Orphanet:355"} ! sphingolipidosis
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0018151
name: coenzyme Q10 deficiency
def: "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." [NCIT:C142083]
subset: disease_grouping
subset: gard_rare {source="GARD:10423", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:35656"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coenzyme Q10 deficiency disease" EXACT [MONDO:0000423]
synonym: "coenzyme Q10 deficiency, primary" EXACT [DOID:0050730]
synonym: "CoQ10 deficiency" EXACT [Orphanet:35656]
synonym: "CoQ10 deficiency, primary" RELATED [GARD:0010423]
xref: DOID:0050730 {source="MONDO:equivalentTo"}
xref: GARD:10423 {source="MONDO:GARD"}
xref: icd11.foundation:1251664337 {source="Orphanet:35656", source="MONDO:equivalentTo"}
xref: MEDGEN:334528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564403 {source="MONDO:equivalentTo"}
xref: NCIT:C142083 {source="MONDO:equivalentTo"}
xref: OMIMPS:607426 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:35656 {source="MONDO:equivalentTo"}
xref: SCTID:724575009 {source="MONDO:equivalentTo"}
xref: UMLS:C1843920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334528"}
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:0006744 ! ubiquinone biosynthetic process
relationship: disease_has_basis_in_disruption_of GO:0006744 {source="PMID:17094036"} ! ubiquinone biosynthetic process
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607426"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency" xsd:anyURI {source="GARD:0010423"}

[Term]
id: MONDO:0018152
name: serpiginous choroiditis
def: "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications." [https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis]
subset: gard_rare {source="GARD:31", source="MONDO:GARD"}
subset: nord_rare {source="NORD:933", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35686"}
subset: orphanet_rare {source="Orphanet:35686"}
subset: rare
synonym: "Choroiditis, Serpiginous" EXACT [NORD:933]
synonym: "geographic choroiditis" RELATED [GARD:0000031]
synonym: "geographic helicoid peripapillary choroidopathy" EXACT [Orphanet:35686]
synonym: "geographic helicoid peripapillary choroidopathy (GHPC)" RELATED [GARD:0000031]
synonym: "geographic serpiginous choroiditis" RELATED [GARD:0000031]
synonym: "peripapillary choriopathy" RELATED [GARD:0000031]
synonym: "serpiginous choroidopathy" RELATED [GARD:0000031]
xref: GARD:31 {source="MONDO:GARD"}
xref: ICD10CM:H30.8 {source="Orphanet:35686/ntbt", source="Orphanet:35686"}
xref: ICD9:363.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:152674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:933 {source="MONDO:NORD"}
xref: Orphanet:35686 {source="MONDO:equivalentTo"}
xref: SCTID:312491004 {source="MONDO:equivalentTo"}
xref: UMLS:C0729842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152674"}
is_a: MONDO:0001280 {source="PMID:30777946", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0009-0001-6494-4831"} ! choroiditis
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis" xsd:anyURI {source="GARD:0000031"}

[Term]
id: MONDO:0018153
name: Erdheim-Chester disease
def: "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." [Orphanet:35687]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:6369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1102"}
subset: ordo_disorder {source="Orphanet:35687"}
subset: orphanet_rare {source="Orphanet:35687"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ECD" RELATED ABBREVIATION [ONCOTREE:ECD]
synonym: "Erdheim Chester Disease" EXACT [NORD:1102]
synonym: "Erdheim Chester disease" RELATED [GARD:0006369]
synonym: "Erdheim-Chester disease" EXACT [NCIT:C53972]
synonym: "lipogranulomatosis" EXACT [NCIT:C53972]
synonym: "lipoid granulomatosis" RELATED [GARD:0006369]
synonym: "polyostotic sclerosing histiocytosis" EXACT [NCIT:C53972]
xref: DOID:4329 {source="EFO:1000926", source="MONDO:equivalentTo"}
xref: EFO:1000926 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6369 {source="MONDO:GARD"}
xref: ICD10CM:D76.3 {source="Orphanet:35687/ntbt", source="Orphanet:35687"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10060801 {source="EFO:1000926", source="Orphanet:35687/e", source="Orphanet:35687"}
xref: MEDGEN:163902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D031249 {source="EFO:1000926", source="Orphanet:35687/e", source="MONDO:equivalentTo", source="DOID:4329", source="Orphanet:35687"}
xref: NANDO:2200038 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C53972 {source="EFO:1000926", source="MONDO:equivalentTo", source="DOID:4329", source="MONDO:exact-label-match"}
xref: NORD:1102 {source="MONDO:NORD"}
xref: ONCOTREE:ECD {source="MONDO:equivalentTo"}
xref: Orphanet:35687 {source="MONDO:equivalentTo"}
xref: SCTID:699537002 {source="MONDO:equivalentTo", source="DOID:4329"}
xref: SCTID:703711007 {source="EFO:1000926", source="DOID:4329"}
xref: UMLS:C0878675 {source="MEDGEN:163902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015531 {source="DOID:4329", source="MESH:D031249", source="Orphanet:35687"} ! non-Langerhans cell histiocytosis
relationship: disease_has_feature MONDO:0006247 {source="NCIT:C53972"} ! histiocytic and dendritic cell neoplasm
relationship: excluded_subClassOf MONDO:0005509 {source="EFO:1000926", source="https://orcid.org/0000-0001-5208-3432"} ! histiocytoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018154
name: Madelung deformity
def: "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow." [Orphanet:35688]
subset: gard_rare {source="GARD:12973", source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:35688"}
subset: rare
xref: GARD:12973 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:35688", source="Orphanet:35688/ntbt", source="Orphanet:35688/inclusion"}
xref: ICD9:755.54 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10007700 {source="Orphanet:35688", source="Orphanet:35688/e"}
xref: MEDGEN:57537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562398 {source="MONDO:equivalentTo"}
xref: Orphanet:35688 {source="MONDO:equivalentObsolete"}
xref: SCTID:4530000 {source="MONDO:equivalentTo"}
xref: UMLS:C0152441 {source="MEDGEN:57537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007481 ! Leri-Weill dyschondrosteosis

[Term]
id: MONDO:0018155
name: lateral sclerosis
def: "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production." [Orphanet:35689]
subset: gard_rare {source="GARD:10684", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:35689"}
subset: orphanet_rare {source="Orphanet:35689"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset PLS" EXACT [Orphanet:35689]
synonym: "adult-onset primary lateral sclerosis" EXACT [DOID:230, Orphanet:35689]
synonym: "PLS" EXACT ABBREVIATION [Orphanet:35689]
synonym: "primary lateral sclerosis" EXACT [DOID:230, ICD9CM:335.24]
xref: DOID:230 {source="MONDO:equivalentTo"}
xref: GARD:10684 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:35689", source="Orphanet:35689/ntbt", source="Orphanet:35689/inclusion"}
xref: ICD10CM:G12.29 {source="DOID:230"}
xref: icd11.foundation:1686688462 {source="Orphanet:35689", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:335.24 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:230"}
xref: MedDRA:10036704 {source="Orphanet:35689", source="Orphanet:35689/e"}
xref: MEDGEN:57591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016472 {source="DOID:230"}
xref: NANDO:1200008 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129933 {source="MONDO:equivalentTo"}
xref: Orphanet:35689 {source="MONDO:equivalentTo", source="DOID:230"}
xref: SCTID:81211007 {source="MONDO:equivalentTo", source="DOID:230"}
xref: UMLS:C0154682 {source="MEDGEN:57591", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020128 {source="DOID:230", source="Orphanet:35689"} ! motor neuron disorder
is_a: MONDO:0024237 {source="Orphanet:35689"} ! inherited neurodegenerative disorder

[Term]
id: MONDO:0018156
name: 3q26q27 microdeletion syndrome
subset: gard_rare {source="GARD:21534", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:356947"}
subset: ordo_malformation_syndrome {source="Orphanet:356947"}
subset: orphanet_rare {source="Orphanet:356947"}
subset: rare
synonym: "3q26-q27microdeletion syndrome" EXACT [Orphanet:356947]
synonym: "Del(3)(q26q27)" EXACT [Orphanet:356947]
synonym: "monosomy 3q26-q27" EXACT [Orphanet:356947]
synonym: "monosomy 3q26q27" EXACT [Orphanet:356947]
xref: GARD:21534 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:356947/attributed", source="Orphanet:356947/ntbt", source="Orphanet:356947"}
xref: MEDGEN:1668723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:356947 {source="MONDO:equivalentTo"}
xref: UMLS:C4755255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1668723"}
is_a: MONDO:0016902 {source="Orphanet:356947"} ! partial deletion of the long arm of chromosome 3
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018157
name: obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder'
subset: ordo_group_of_disorders {source="Orphanet:35696"}
synonym: "combined oxidative phosphorylation defect" EXACT [Orphanet:35696]
synonym: "combined OXPHOS defect" EXACT [Orphanet:35696]
synonym: "combined OXPHOS deficiency" EXACT [Orphanet:35696]
synonym: "COXPD" EXACT ABBREVIATION [Orphanet:35696]
xref: GARD:18814 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E88.8 {source="Orphanet:35696/attributed", source="Orphanet:35696/ntbt", source="Orphanet:35696"}
xref: Orphanet:35696 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0004069

[Term]
id: MONDO:0018158
name: mitochondrial DNA depletion syndrome
def: "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." [Orphanet:35698]
subset: disease_grouping
subset: gard_rare {source="GARD:13643", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:35698"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mtDNA depletion syndrome" EXACT [Orphanet:35698]
xref: DOID:0070329 {source="MONDO:equivalentTo"}
xref: GARD:13643 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:35698/attributed", source="Orphanet:35698/ntbt", source="Orphanet:35698"}
xref: icd11.foundation:1159345506 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:35698"}
xref: MedDRA:10059396 {source="Orphanet:35698/e", source="Orphanet:35698"}
xref: MEDGEN:452449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200523 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200528 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:603041 {source="MONDO:equivalentTo"}
xref: Orphanet:35698 {source="MONDO:equivalentTo"}
xref: UMLS:C0342782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452449"}
is_a: MONDO:0016387 {source="Orphanet:35698", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder
relationship: excluded_subClassOf MONDO:0015188 {source="Orphanet:35698", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metabolic disorder with intestinal involvement
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603041"} ! inherited

[Term]
id: MONDO:0018159
name: atypical hemolytic-uremic syndrome with DGKE deficiency
subset: gard_rare {source="GARD:17543", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357008"}
subset: ordo_etiological_subtype {source="Orphanet:357008"}
subset: orphanet_rare {source="Orphanet:357008"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aHUS with DGKE deficiency" EXACT [Orphanet:357008]
synonym: "atypical HUS with DGKE deficiency" EXACT [Orphanet:357008]
synonym: "D-HUS with DGKE deficiency" EXACT [Orphanet:357008]
synonym: "hemolytic-uremic syndrome without diarrhea with DGKE deficiency" EXACT [Orphanet:357008]
synonym: "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency" EXACT OMO:0003005 []
xref: DOID:0080388 {source="MONDO:equivalentTo"}
xref: GARD:17543 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:357008/attributed", source="Orphanet:357008/ntbt", source="Orphanet:357008"}
xref: MEDGEN:1826167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:357008 {source="MONDO:equivalentTo"}
xref: UMLS:C5679921 {source="MEDGEN:1826167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016244 {source="Orphanet:357008"} ! atypical hemolytic-uremic syndrome

[Term]
id: MONDO:0018160
name: hereditary retinoblastoma
def: "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C8495]
subset: gard_rare {source="GARD:17544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:357027"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial retinoblastoma" EXACT [MONDO:0003074]
synonym: "hereditary retinoblastoma" EXACT CLINGEN_LABEL [DOID:4648, MONDO:patterns/hereditary, NCIT:C8495]
synonym: "RB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180200]
synonym: "retinoblastoma, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2]
synonym: "retinoblastoma, trilateral, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2]
xref: DOID:4648 {source="MONDO:equivalentTo"}
xref: GARD:17544 {source="MONDO:GARD"}
xref: ICD10CM:C69.2 {source="Orphanet:357027/attributed", source="Orphanet:357027/ntbt", source="Orphanet:357027"}
xref: MEDGEN:155869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012175 {source="DOID:4648"}
xref: NCIT:C8495 {source="MONDO:equivalentTo", source="DOID:4648"}
xref: OMIM:180200 {source="Orphanet:357027", source="MONDO:equivalentTo"}
xref: Orphanet:357027 {source="MONDO:equivalentTo"}
xref: UMLS:C0751483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155869"}
is_a: MONDO:0008380 {source="DOID:4648", source="MONDO:Redundant", source="NCIT:C8495", source="Orphanet:357027"} ! retinoblastoma
is_a: MONDO:0015356 {source="Orphanet:357027"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0008380 ! retinoblastoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9884 {source="MONDO:mim2gene_medgen", source="OMIM:180200"} ! RB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0018161
name: non-hereditary retinoblastoma
subset: gard_rare {source="GARD:17545", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:357034"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0005717 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17545 {source="MONDO:GARD"}
xref: ICD10CM:C69.2 {source="Orphanet:357034/attributed", source="Orphanet:357034/ntbt", source="Orphanet:357034"}
xref: MEDGEN:1842255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:357034 {source="MONDO:equivalentTo"}
xref: UMLS:C5680987 {source="MONDO:equivalentTo", source="MEDGEN:1842255", source="MONDO:MEDGEN"}
is_a: MONDO:0008380 {source="Orphanet:357034"} ! retinoblastoma

[Term]
id: MONDO:0018162
name: neurometabolic disorder due to serine deficiency
def: "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency." [Orphanet:35705]
comment: This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it.
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:18815", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:35705"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neurometabolic disorder due to serine deficiency" EXACT CLINGEN_LABEL []
synonym: "serine deficiency" EXACT [Orphanet:35705]
xref: GARD:18815 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:35705", source="Orphanet:35705/attributed", source="Orphanet:35705/ntbt"}
xref: MEDGEN:1842451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:35705 {source="MONDO:equivalentTo"}
xref: UMLS:C5680148 {source="MEDGEN:1842451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000421 ! inborn serine deficiency
is_a: MONDO:0019239 {source="Orphanet:35705"} ! inborn disorder of serine family metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886#issuecomment-993772000" xsd:anyURI
consider: MONDO:0019058

[Term]
id: MONDO:0018163
name: autosomal recessive cutis laxa type 2A
def: "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." [DOID:0070134]
subset: gard_rare {source="GARD:1638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357058"}
subset: orphanet_rare {source="Orphanet:357058"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCL2A" EXACT ABBREVIATION [DOID:0070134, OMIM:219200, Orphanet:357058]
synonym: "autosomal recessive cutis laxa type 2A" EXACT CLINGEN_LABEL []
synonym: "autosomal recessive cutis laxa type IIA" EXACT [DOID:0070134]
synonym: "cutis laxa with bone dystrophy" EXACT [OMIM:219200]
synonym: "cutis laxa with congenital disorder of glycosylation" EXACT [OMIM:219200]
synonym: "cutis laxa with growth and developmental delay" EXACT [OMIM:219200]
synonym: "cutis laxa with Joint laxity and retarded development" EXACT [OMIM:219200]
synonym: "cutis laxa, autosomal recessive type 2A" EXACT [GARD:0001638]
synonym: "cutis laxa, autosomal recessive, type 2A" EXACT [OMIM:219200]
synonym: "cutis laxa, autosomal recessive, type IIA" EXACT [MONDO:Lexical, OMIM:219200]
synonym: "cutis laxa, debre type" EXACT [OMIM:219200]
xref: DOID:0070134 {source="MONDO:equivalentTo"}
xref: GARD:1638 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:357058", source="Orphanet:357058/attributed", source="Orphanet:357058/ntbt", source="DOID:0070134"}
xref: MEDGEN:82795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:219200 {source="Orphanet:357058", source="Orphanet:357058/btnt", source="DOID:0070134", source="MONDO:equivalentTo"}
xref: Orphanet:357058 {source="MONDO:equivalentTo"}
xref: UMLS:C0268355 {source="MEDGEN:82795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 ! skin disorder
is_a: MONDO:0019573 {source="Orphanet:357058"} ! autosomal recessive cutis laxa type 2
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
relationship: excluded_subClassOf MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
relationship: excluded_subClassOf MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
relationship: excluded_subClassOf MONDO:0017752 {source="Orphanet:357058", source="https://orcid.org/0000-0001-5208-3432"} ! defect in V-ATPase
relationship: excluded_subClassOf MONDO:0018292 {source="Orphanet:357058", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital disorder of glycosylation-related bone disorder
relationship: excluded_subClassOf MONDO:0019058 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurometabolic disease
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18481 {source="OMIM:219200", source="Orphanet:357058"} ! ATP6V0A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5048" xsd:anyURI

[Term]
id: MONDO:0018164
name: arterial thoracic outlet syndrome
def: "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia." [Orphanet:357107]
subset: gard_rare {source="GARD:21535", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:357107"}
subset: rare
synonym: "arterial cervical rib syndrome" EXACT [Orphanet:357107]
synonym: "arterial costoclavicular syndrome" EXACT [Orphanet:357107]
synonym: "arterial hyperabduction syndrome" EXACT [Orphanet:357107]
synonym: "arterial scalenus anticus syndrome" EXACT [Orphanet:357107]
synonym: "arterial thoracic outlet compression syndrome" EXACT [Orphanet:357107]
synonym: "arterial TOS" EXACT [Orphanet:357107]
synonym: "ATOS" EXACT ABBREVIATION [Orphanet:357107]
xref: GARD:21535 {source="MONDO:GARD"}
xref: ICD10CM:G54.0 {source="Orphanet:357107/ntbt", source="Orphanet:357107"}
xref: MEDGEN:365116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:357107 {source="MONDO:equivalentTo"}
xref: SCTID:8051000119105 {source="MONDO:equivalentTo"}
xref: UMLS:C1956395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:365116"}
is_a: MONDO:0005979 {source="Orphanet:357107"} ! thoracic outlet syndrome

[Term]
id: MONDO:0018165
name: venous thoracic outlet syndrome
def: "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis." [Orphanet:357131]
subset: gard_rare {source="GARD:21536", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:357131"}
subset: rare
synonym: "effort subclavian vein thrombosis" EXACT [Orphanet:357131]
synonym: "Paget-Schrotter disease" EXACT [Orphanet:357131]
synonym: "Venous cervical rib syndrome" EXACT [Orphanet:357131]
synonym: "Venous costoclavicular syndrome" EXACT [Orphanet:357131]
synonym: "Venous hyperabduction syndrome" EXACT [Orphanet:357131]
synonym: "Venous scalenus anticus syndrome" EXACT [Orphanet:357131]
synonym: "Venous thoracic outlet compression syndrome" EXACT [Orphanet:357131]
synonym: "Venous TOS" EXACT [Orphanet:357131]
synonym: "VTOS" EXACT ABBREVIATION [Orphanet:357131]
xref: GARD:21536 {source="MONDO:GARD"}
xref: ICD10CM:G54.0 {source="Orphanet:357131/ntbt", source="Orphanet:357131"}
xref: MEDGEN:408326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:357131 {source="MONDO:equivalentTo"}
xref: SCTID:25981000119102 {source="MONDO:equivalentTo"}
xref: UMLS:C1956396 {source="MEDGEN:408326", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005979 {source="Orphanet:357131"} ! thoracic outlet syndrome

[Term]
id: MONDO:0018166
name: oral submucous fibrosis
def: "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment." [Orphanet:357154]
subset: gard_rare {source="GARD:7264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357154"}
subset: orphanet_rare {source="Orphanet:357154"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "oral cavity submucous fibrosis" EXACT [DOID:5773]
synonym: "oral submucosal fibrosis" EXACT [DOID:5773]
synonym: "oral submucosal fibrosis, including of tongue" EXACT [DOID:5773, ICD9CM:528.8]
synonym: "OSMF" EXACT ABBREVIATION [Orphanet:357154]
xref: DOID:5773 {source="MONDO:equivalentTo"}
xref: EFO:1001818 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7264 {source="MONDO:GARD"}
xref: ICD10CM:K13.5 {source="DOID:5773", source="Orphanet:357154/e", source="MONDO:equivalentTo", source="Orphanet:357154"}
xref: icd11.foundation:1798376929 {source="MONDO:equivalentTo", source="Orphanet:357154"}
xref: ICD9:528.8 {source="DOID:5773", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:45213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009914 {source="DOID:5773", source="MONDO:equivalentTo"}
xref: NCIT:C34866 {source="DOID:5773", source="MONDO:equivalentTo"}
xref: Orphanet:357154 {source="MONDO:equivalentTo"}
xref: SCTID:32883009 {source="DOID:5773", source="MONDO:equivalentTo"}
xref: UMLS:C0029172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45213"}
is_a: MONDO:0006858 {source="DOID:5773", source="MESH:D009914", source="NCIT:C34866/inferred"} ! mouth disorder
is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skeleton
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis" xsd:anyURI {source="GARD:0007264"}

[Term]
id: MONDO:0018167
name: primary essential cutis verticis gyrata
def: "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes." [Orphanet:357220]
subset: gard_rare {source="GARD:21537", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357220"}
subset: orphanet_rare {source="Orphanet:357220"}
subset: rare
xref: GARD:21537 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:357220/ntbt", source="Orphanet:357220"}
xref: MEDGEN:1632625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:357220 {source="MONDO:equivalentTo"}
xref: SCTID:765135003 {source="MONDO:equivalentTo"}
xref: UMLS:C4707327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632625"}
is_a: MONDO:0019033 {source="Orphanet:357220"} ! primary cutis verticis gyrata

[Term]
id: MONDO:0018168
name: primary non-essential cutis verticis gyrata
subset: gard_rare {source="GARD:21538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:357225"}
subset: orphanet_rare {source="Orphanet:357225"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21538 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:357225/attributed", source="Orphanet:357225/ntbt", source="Orphanet:357225"}
xref: MEDGEN:1653253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:357225 {source="MONDO:equivalentTo"}
xref: UMLS:C4755295 {source="MONDO:equivalentTo", source="MEDGEN:1653253", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder
is_a: MONDO:0019033 {source="Orphanet:357225"} ! primary cutis verticis gyrata
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:357225", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018169
name: morning glory syndrome
def: "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies." [Orphanet:35737]
subset: gard_rare {source="GARD:13354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35737"}
subset: ordo_morphological_anomaly {source="Orphanet:35737"}
subset: orphanet_rare {source="Orphanet:35737"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Ectasic coloboma" EXACT [Orphanet:35737]
synonym: "Volubilis syndrome" EXACT [Orphanet:35737]
xref: GARD:13354 {source="MONDO:GARD"}
xref: ICD10CM:Q14.2 {source="Orphanet:35737/attributed", source="Orphanet:35737/ntbt", source="Orphanet:35737"}
xref: MedDRA:10027974 {source="Orphanet:35737", source="Orphanet:35737/e"}
xref: MEDGEN:767635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:35737 {source="MONDO:equivalentTo"}
xref: UMLS:C3554721 {source="MEDGEN:767635", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007354 ! coloboma of optic nerve
is_a: MONDO:0020249 {source="Orphanet:35737"} ! hereditary optic neuropathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13354/morning-glory-syndrome" xsd:anyURI {source="GARD:0013354"}

[Term]
id: MONDO:0018170
name: idiopathic nephrotic syndrome
def: "Nephrotic syndrome for which no cause has been identified." [NCIT:C122796]
subset: disease_grouping
subset: gard_rare {source="GARD:21539", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:357502"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21539 {source="MONDO:GARD"}
xref: MEDGEN:501252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200719 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122796 {source="MONDO:equivalentTo"}
xref: Orphanet:357502 {source="MONDO:equivalentTo"}
xref: UMLS:C3496337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501252"}
is_a: MONDO:0005377 {source="NCIT:C122796", source="https://orcid.org/0000-0002-6601-2165"} ! nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018171
name: malignant germ cell tumor of ovary
def: "Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen." [Orphanet:35807]
subset: disease_grouping
subset: gard_rare {source="GARD:9330", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:35807"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant germ cell neoplasm of ovary" EXACT [NCIT:C4514]
synonym: "malignant germ cell neoplasm of the ovary" EXACT [NCIT:C4514]
synonym: "malignant germ cell tumor of ovary" EXACT [NCIT:C4514]
synonym: "malignant germ cell tumor of the ovary" EXACT [NCIT:C4514]
synonym: "malignant germ cell tumour of the ovary" EXACT OMO:0003005 []
synonym: "malignant ovarian germ cell neoplasm" EXACT [MONDO:0002231, NCIT:C4514]
synonym: "malignant ovarian germ cell tumor" EXACT [DOID:2155, NCIT:C4514, Orphanet:35807]
synonym: "malignant ovarian germ cell tumour" EXACT OMO:0003005 []
synonym: "MOGCT" EXACT ABBREVIATION [Orphanet:35807]
synonym: "ovarian germ cell cancer" EXACT [NCIT:C4514, Orphanet:35807]
synonym: "ovary malignant germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "ovary malignant germ cell tumour" EXACT OMO:0003005 []
xref: DOID:2155 {source="MONDO:equivalentTo"}
xref: GARD:9330 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:35807", source="Orphanet:35807/ntbt"}
xref: MEDGEN:87544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562841 {source="DOID:2155"}
xref: NCIT:C4514 {source="DOID:2155", source="MONDO:equivalentTo"}
xref: Orphanet:35807 {source="MONDO:equivalentTo"}
xref: SCTID:254869000 {source="DOID:2155", source="MONDO:equivalentTo"}
xref: UMLS:C0346180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87544"}
is_a: MONDO:0006290 {source="MONDO:Redundant", source="NCIT:C4514"} ! malignant germ cell tumor
is_a: MONDO:0008170 {source="DOID:2155/inferred", source="MONDO:Redundant", source="NCIT:C4514", source="Orphanet:35807/inferred"} ! ovarian cancer
is_a: MONDO:0011366 {source="DOID:2155", source="MONDO:Redundant", source="NCIT:C4514"} ! ovarian germ cell tumor
is_a: MONDO:0018202 {source="Orphanet:35807"} ! gonadal germ cell tumor
is_a: MONDO:0018365 {source="Orphanet:35807"} ! malignant non-epithelial tumor of ovary
intersection_of: MONDO:0006290 ! malignant germ cell tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0018172
name: malignant sex cord stromal tumor of ovary
def: "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis." [Orphanet:35808]
subset: disease_grouping
subset: gard_rare {source="GARD:18816", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:35808"}
subset: rare
synonym: "malignant ovarian SCST" EXACT [Orphanet:35808]
synonym: "malignant ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C8053]
synonym: "malignant ovarian Sex cord-stromal tumor" EXACT [NCIT:C8053]
synonym: "malignant ovarian sex cord-stromal tumor" EXACT [Orphanet:35808]
synonym: "malignant ovarian Sex cord-stromal tumour" EXACT OMO:0003005 []
synonym: "malignant ovarian sex cord-stromal tumour" EXACT OMO:0003005 []
synonym: "malignant Sex cord-stromal tumor of ovary" EXACT [NCIT:C8053]
synonym: "malignant Sex cord-stromal tumor of the ovary" EXACT [NCIT:C8053]
synonym: "malignant Sex cord-stromal tumour of ovary" EXACT OMO:0003005 []
synonym: "malignant Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian sex cord-stromal tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: GARD:18816 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:35808/ntbt", source="Orphanet:35808"}
xref: MEDGEN:233667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8053 {source="MONDO:equivalentTo"}
xref: Orphanet:35808 {source="MONDO:equivalentTo"}
xref: UMLS:C1334609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233667"}
is_a: MONDO:0008170 {source="MONDO:Redundant", source="NCIT:C8053", source="Orphanet:35808/inferred"} ! ovarian cancer
is_a: MONDO:0018365 {source="Orphanet:35808"} ! malignant non-epithelial tumor of ovary
is_a: MONDO:0021657 {source="MONDO:Redundant", source="NCIT:C8053"} ! ovarian sex cord-stromal tumor
intersection_of: MONDO:0021657 ! ovarian sex cord-stromal tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0018173
name: acute opioid poisoning
def: "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication." [Orphanet:35889]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35889"}
subset: orphanet_rare {source="Orphanet:35889"}
subset: rare
xref: ICD10CM:T40.0 {source="Orphanet:35889", source="Orphanet:35889/btnt"}
xref: ICD10CM:T40.1 {source="Orphanet:35889", source="Orphanet:35889/btnt"}
xref: ICD10CM:T40.2 {source="Orphanet:35889", source="Orphanet:35889/btnt"}
xref: icd11.foundation:1395283456 {source="Orphanet:35889", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:35889 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:35889"} ! poisoning
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018174
name: hereditary glaucoma
def: "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." [Orphanet:359]
subset: disease_grouping
subset: gard_rare {source="GARD:2486", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:359"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glaucoma, hereditary" RELATED [GARD:0002486]
synonym: "hereditary glaucoma (disease)" EXACT [MONDO:patterns/hereditary]
xref: GARD:2486 {source="MONDO:GARD"}
xref: MEDGEN:777991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580055 {source="MONDO:equivalentTo"}
xref: Orphanet:359 {source="MONDO:equivalentTo"}
xref: UMLS:C3711383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777991"}
is_a: MONDO:0005041 {source="MESH:C580055", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! glaucoma
intersection_of: MONDO:0005041 ! glaucoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:359", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary" xsd:anyURI {source="GARD:0002486"}

[Term]
id: MONDO:0018175
name: combined deficiency of factor V and factor VIII
def: "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." [Orphanet:35909]
subset: gard_rare {source="GARD:16639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35909"}
subset: orphanet_rare {source="Orphanet:35909"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined deficiency of factor V and factor type VIII" EXACT [MONDORULE:3, Orphanet:35909]
synonym: "F5F8D" EXACT ABBREVIATION [Orphanet:35909]
synonym: "familial multiple coagulation factor deficiency" EXACT [Orphanet:35909]
synonym: "FV and FVIII combined deficiency" EXACT [Orphanet:35909]
xref: GARD:16639 {source="MONDO:GARD"}
xref: ICD10CM:D68.8 {source="Orphanet:35909/attributed", source="Orphanet:35909/ntbt", source="Orphanet:35909"}
xref: MEDGEN:384006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200686 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:35909 {source="MONDO:equivalentTo"}
xref: SCTID:715559004 {source="MONDO:equivalentTo"}
xref: UMLS:C1856883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:384006"}
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease

[Term]
id: MONDO:0018176
name: obsolete polymicrogyria
is_obsolete: true
replaced_by: MONDO:0000087

[Term]
id: MONDO:0018177
name: glioblastoma
def: "The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)" [NCIT:C3058]
subset: gard_rare {source="GARD:2491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1187"}
subset: ordo_disorder {source="Orphanet:360"}
subset: orphanet_rare {source="Orphanet:360"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult glioblastoma multiforme" RELATED EXCLUDE [DOID:3068]
synonym: "GBM" EXACT ABBREVIATION [DOID:3068, NCIT:C3058, Orphanet:360]
synonym: "GBM (glioblastoma)" EXACT [DOID:3068, NCIT:C3058]
synonym: "giant cell glioblastoma (histologic variant)" RELATED [GARD:0002491]
synonym: "glioblastoma" EXACT [MONDO:ambiguous, NCIT:C3058]
synonym: "glioblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "glioblastoma multiforme" EXACT [NCIT:C3058, Orphanet:360]
synonym: "glioblastoma multiforme (disease)" EXACT [MONDO:0002498]
synonym: "gliosarcoma (histologic variant)" RELATED [GARD:0002491]
synonym: "grade IV adult astrocytic tumor" NARROW [DOID:3068, NCIT:C9094]
synonym: "grade IV adult astrocytic tumour" NARROW OMO:0003005 []
synonym: "grade IV astrocytic neoplasm" EXACT [NCIT:C3058]
synonym: "grade IV astrocytic tumor" EXACT [NCIT:C3058]
synonym: "grade IV astrocytic tumour" EXACT OMO:0003005 []
synonym: "grade IV astrocytoma" EXACT [NCIT:C3058]
synonym: "primary glioblastoma multiforme" EXACT [DOID:3068]
synonym: "spongioblastoma multiforme" EXACT [DOID:3068, NCIT:C3058]
synonym: "WHO grade IV glioma" EXACT [NCIT:C3058]
xref: DOID:3068 {source="MONDO:equivalentTo"}
xref: EFO:0000519 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2491 {source="MONDO:GARD"}
xref: HP:0012174 {source="MONDO:otherHierarchy"}
xref: HP:0100843 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C71.9 {source="Orphanet:360", source="Orphanet:360/ntbt"}
xref: ICDO:9440/3 {source="NCIT:C3058"}
xref: MedDRA:10018336 {source="Orphanet:360", source="Orphanet:360/e"}
xref: MedDRA:10018337 {source="Orphanet:360", source="Orphanet:360/e"}
xref: MEDGEN:42228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005909 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:3068", source="MONDO:equivalentTo", source="Orphanet:360", source="Orphanet:360/e"}
xref: NANDO:2200087 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3058 {source="DOID:3068", source="MONDO:equivalentTo"}
xref: NCIT:C39750 {source="DOID:3068"}
xref: NCIT:C9094 {source="DOID:3068"}
xref: NORD:1187 {source="MONDO:NORD"}
xref: ONCOTREE:GB {source="MONDO:equivalentTo"}
xref: ONCOTREE:GBM {source="MONDO:equivalentTo"}
xref: Orphanet:360 {source="MONDO:equivalentTo"}
xref: SCTID:189917003 {source="DOID:3068"}
xref: SCTID:269506004 {source="DOID:3068"}
xref: SCTID:393563007 {source="MONDO:equivalentTo"}
xref: SCTID:63634009 {source="DOID:3068"}
xref: UMLS:C0017636 {source="MEDGEN:42228", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016680 {source="NCIT:C3058", source="Orphanet:360"} ! high grade astrocytic tumor
relationship: has_characteristic MONDO:0024494 {source="NCIT:C3058"} ! tumor grade 4, general grading system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5798" xsd:anyURI
property_value: IAO:0000589 "glioblastoma (disease)" xsd:string

[Term]
id: MONDO:0018178
name: intestinal lymphangiectasia
def: "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." [MESH:D008201]
subset: disease_grouping
subset: gard_rare {source="GARD:12331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:36204"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intestinal lymphangiectasia" EXACT [MONDO:ambiguous]
synonym: "intestinal lymphangiectasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:12331 {source="MONDO:GARD"}
xref: HP:0002593 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I89.0 {source="Orphanet:36204/ntbt", source="Orphanet:36204"}
xref: icd11.foundation:1255239964 {source="MONDO:equivalentTo", source="Orphanet:36204"}
xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10025213 {source="Orphanet:36204/e", source="Orphanet:36204"}
xref: MEDGEN:9828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008201 {source="Orphanet:36204/e", source="Orphanet:36204"}
xref: NANDO:2100256 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200914 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:36204 {source="MONDO:equivalentTo"}
xref: SCTID:197260007 {source="MONDO:equivalentTo"}
xref: UMLS:C0024215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9828"}
is_a: MONDO:0005020 {source="Orphanet:36204"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: IAO:0000589 "intestinal lymphangiectasia (disease)" xsd:string

[Term]
id: MONDO:0018179
name: obsolete bacterial toxic-shock syndrome
is_obsolete: true
replaced_by: MONDO:0001881

[Term]
id: MONDO:0018180
name: staphylococcal scarlet fever
subset: gard_rare {source="GARD:18819", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36235"}
subset: orphanet_rare {source="Orphanet:36235"}
subset: rare
xref: GARD:18819 {source="MONDO:GARD"}
xref: ICD10CM:A38 {source="MONDO:relatedTo", source="Orphanet:36235/ntbt", source="Orphanet:36235"}
xref: icd11.foundation:449652676 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:36235"}
xref: Orphanet:36235 {source="MONDO:equivalentTo"}
is_a: MONDO:0017592 {source="Orphanet:36235"} ! staphylococcal toxemia

[Term]
id: MONDO:0018181
name: staphylococcal scalded skin syndrome
def: "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." [NCIT:C85077]
subset: gard_rare {source="GARD:13158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1781"}
subset: ordo_disorder {source="Orphanet:36236"}
subset: orphanet_rare {source="Orphanet:36236"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dermatitis exfoliativa neonatorum" EXACT [DOID:9063]
synonym: "generalised exfoliative disease" EXACT OMO:0003005 []
synonym: "generalized exfoliative disease" EXACT [Orphanet:36236]
synonym: "pemphigus neonatorum" EXACT [DOID:9063]
synonym: "Ritter disease" EXACT [DOID:9063, MONDO:0005948]
synonym: "Ritter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "scalded skin syndrome" EXACT [DOID:9063]
synonym: "SSSS" EXACT ABBREVIATION [Orphanet:36236]
synonym: "staphylococcal scalded skin syndrome" EXACT [DOID:9063]
synonym: "toxic epidermal necrolysis, subcorneal type" EXACT [DOID:9063]
xref: DOID:9063 {source="MONDO:equivalentTo", source="EFO:0007473"}
xref: EFO:0007473 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13158 {source="MONDO:GARD"}
xref: ICD10CM:L00 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="Orphanet:36236"}
xref: icd11.foundation:1554593739 {source="MONDO:equivalentTo", source="Orphanet:36236"}
xref: ICD9:695.81 {source="DOID:9063", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10041929 {source="Orphanet:36236/e", source="Orphanet:36236"}
xref: MEDGEN:52484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013206 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="EFO:0007473", source="Orphanet:36236"}
xref: NCIT:C85077 {source="DOID:9063", source="MONDO:equivalentTo"}
xref: NORD:1781 {source="MONDO:NORD"}
xref: Orphanet:36236 {source="MONDO:equivalentTo"}
xref: SCTID:200946001 {source="DOID:9063", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:277475006 {source="MONDO:equivalentTo"}
xref: SCTID:367537006 {source="DOID:9063"}
xref: SCTID:87758007 {source="DOID:9063"}
xref: UMLS:C0038165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52484"}
is_a: MONDO:0000315 {source="DOID:9063"} ! commensal bacterial infectious disease
is_a: MONDO:0005093 {source="DOID:9063", source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0005113 {source="DOID:9063/inferred", source="EFO:0007473", source="MONDO:Redundant", source="MONDO:indirect"} ! bacterial infectious disease
is_a: MONDO:0017592 {source="Orphanet:36236"} ! staphylococcal toxemia
relationship: disease_has_feature HP:0000737 ! Irritability
relationship: disease_has_feature HP:0010783 ! Erythema
relationship: disease_has_infectious_agent NCBITaxon:1280 ! Staphylococcus aureus
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C85077", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0018182
name: bullous impetigo
def: "Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus." [Orphanet:36237]
subset: gard_rare {source="GARD:18820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36237"}
subset: orphanet_rare {source="Orphanet:36237"}
subset: rare
xref: GARD:18820 {source="MONDO:GARD"}
xref: ICD10CM:L01.0 {source="Orphanet:36237/ntbt", source="Orphanet:36237"}
xref: ICD10CM:L01.03 {source="MONDO:equivalentTo"}
xref: icd11.foundation:1398484288 {source="MONDO:equivalentTo", source="Orphanet:36237"}
xref: MedDRA:10006563 {source="Orphanet:36237/e", source="Orphanet:36237"}
xref: MEDGEN:507838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:36237 {source="MONDO:equivalentTo"}
xref: SCTID:399183005 {source="MONDO:equivalentTo"}
xref: UMLS:C0021100 {source="MONDO:equivalentTo", source="MEDGEN:507838", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
is_a: MONDO:0017592 {source="Orphanet:36237"} ! staphylococcal toxemia

[Term]
id: MONDO:0018183
name: staphylococcal necrotizing pneumonia
def: "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." [Orphanet:36238]
subset: gard_rare {source="GARD:18821", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36238"}
subset: orphanet_rare {source="Orphanet:36238"}
subset: rare
xref: GARD:18821 {source="MONDO:GARD"}
xref: ICD10CM:J15.2 {source="Orphanet:36238", source="Orphanet:36238/ntbt"}
xref: MEDGEN:1637863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:36238 {source="MONDO:equivalentTo"}
xref: SCTID:763888005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706659 {source="MEDGEN:1637863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:36238"} ! respiratory system disorder
is_a: MONDO:0017592 {source="Orphanet:36238"} ! staphylococcal toxemia

[Term]
id: MONDO:0018184
name: gastric linitis plastica
def: "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma." [Orphanet:36273]
subset: gard_rare {source="GARD:18822", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:36273"}
subset: ordo_disorder {source="Orphanet:36273"}
subset: orphanet_rare {source="Orphanet:36273"}
subset: rare
synonym: "Borrmann gastric cancer type 4" EXACT [Orphanet:36273]
synonym: "leather-bottle stomach" EXACT [MONDO:0002839]
synonym: "linitis plastica" EXACT [DOID:4023]
synonym: "linitis plastica (morphologic abnormality)" EXACT [DOID:4023]
synonym: "linitis plastica of the stomach" EXACT [Orphanet:36273]
xref: DOID:4023 {source="MONDO:equivalentTo"}
xref: GARD:18822 {source="MONDO:GARD"}
xref: ICD10CM:C16.9 {source="Orphanet:36273", source="Orphanet:36273/ntbt"}
xref: ICDO:8142/3 {source="NCIT:C3190"}
xref: MEDGEN:928895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008039 {source="DOID:4023", source="MONDO:equivalentTo"}
xref: NCIT:C3190 {source="DOID:4023", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:36273 {source="MONDO:equivalentTo"}
xref: SCTID:307594007 {source="DOID:4023"}
xref: SCTID:37995004 {source="DOID:4023"}
xref: SCTID:721629005 {source="MONDO:equivalentTo"}
xref: UMLS:C4303226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928895"}
is_a: MONDO:0004950 {source="Orphanet:36273"} ! gastric carcinoma
is_a: MONDO:0005017 {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/42"} ! diffuse gastric adenocarcinoma
is_a: MONDO:0045054 {source="NCIT:C3190"} ! cancer-related condition
relationship: disease_has_location UBERON:0001167 ! wall of stomach
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7459" xsd:anyURI

[Term]
id: MONDO:0018185
name: obsolete congenital anomaly of the great veins
subset: ordo_group_of_disorders {source="Orphanet:363189"}
xref: GARD:21541 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:363189 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018186
name: obsolete ring chromosome
def: "OBSOLETE. Aberrant chromosomes with no ends, i.e., circular." [MESH:D012303]
comment: Reason: grouping class. This term is from orphanet and refers specifically to autosomal chromosome. Consider MONDO:0700091, referring to both autosomal and gonosomal chromosomes. Term to consider: MONDO:0700091
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:363203"}
synonym: "supernumerary circular chromosome" BROAD [NCIT:C3360]
xref: GARD:21542 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q93.2 {source="Orphanet:363203", source="Orphanet:363203/attributed", source="Orphanet:363203/ntbt"}
xref: MESH:D012303
xref: NCIT:C3360
xref: Orphanet:363203 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0700091

[Term]
id: MONDO:0018187
name: obsolete hereditary syndromic Pierre Robin syndrome
subset: ordo_group_of_disorders {source="Orphanet:363294"}
synonym: "genetic syndromic Pierre Robin syndrome" EXACT [Orphanet:363294]
xref: GARD:21545 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:363294 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:363294", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018188
name: obsolete hereditary intestinal polyposis
subset: ordo_group_of_disorders {source="Orphanet:363314"}
subset: otar {source="MONDO:OTAR"}
synonym: "familial intestinal polyposis" EXACT [Orphanet:363314]
synonym: "genetic intestinal polyposis" EXACT [Orphanet:363314]
xref: GARD:21548 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D12.6 {source="Orphanet:363314", source="Orphanet:363314/attributed", source="Orphanet:363314/ntbt"}
xref: Orphanet:363314 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018189
name: autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
def: "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." [Orphanet:363429]
subset: gard_rare {source="GARD:17556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363429"}
subset: orphanet_rare {source="Orphanet:363429"}
subset: rare
xref: GARD:17556 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:363429/attributed", source="Orphanet:363429/ntbt", source="Orphanet:363429"}
xref: MEDGEN:1644588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363429 {source="MONDO:equivalentTo"}
xref: UMLS:C4706388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644588"}
is_a: MONDO:0019216 {source="Orphanet:363429"} ! inborn disorder of amino acid transport
is_a: MONDO:0020044 {source="Orphanet:363429"} ! autosomal recessive metabolic cerebellar ataxia

[Term]
id: MONDO:0018190
name: autosomal dominant childhood-onset proximal spinal muscular atrophy
subset: gard_rare {source="GARD:17559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363447"}
subset: orphanet_rare {source="Orphanet:363447"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" EXACT [Orphanet:363447]
synonym: "SMALED" EXACT ABBREVIATION [Orphanet:363447]
synonym: "spinal muscular atrophy, lower extremity-predominant" RELATED [OMIMPS:158600]
xref: DOID:0070348 {source="MONDO:equivalentTo"}
xref: GARD:17559 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:363447", source="Orphanet:363447/attributed", source="Orphanet:363447/ntbt"}
xref: OMIMPS:158600 {source="MONDO:equivalentTo"}
xref: Orphanet:363447 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0019079 {source="https://orcid.org/0000-0002-4142-7153"} ! proximal spinal muscular atrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:158600"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018191
name: obsolete tumor of testis and paratestis
subset: ordo_group_of_disorders {source="Orphanet:363472"}
synonym: "testicular and paratesticular tumor" EXACT [Orphanet:363472]
synonym: "testicular and paratesticular tumour" EXACT OMO:0003005 []
xref: GARD:21549 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:363472 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018192
name: paratesticular adenocarcinoma
subset: gard_rare {source="GARD:21550", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363478"}
subset: orphanet_rare {source="Orphanet:363478"}
subset: rare
synonym: "adenocarcinoma of paratestis" EXACT [Orphanet:363478]
synonym: "adenocarcinoma of the paratestis" EXACT [Orphanet:363478]
xref: GARD:21550 {source="MONDO:GARD"}
xref: ICD10CM:C63.0 {source="Orphanet:363478", source="Orphanet:363478/btnt"}
xref: ICD10CM:C63.1 {source="Orphanet:363478", source="Orphanet:363478/btnt"}
xref: ICD10CM:C63.2 {source="Orphanet:363478", source="Orphanet:363478/btnt"}
xref: ICD10CM:C63.7 {source="Orphanet:363478", source="Orphanet:363478/btnt"}
xref: ICD10CM:C63.8 {source="Orphanet:363478", source="Orphanet:363478/btnt"}
xref: MEDGEN:1678623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363478 {source="MONDO:equivalentTo"}
xref: UMLS:C5190800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678623"}
is_a: MONDO:0005447 {source="https://orcid.org/0000-0001-5208-3432"} ! testicular cancer
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI

[Term]
id: MONDO:0018193
name: testicular teratoma
subset: gard_rare {source="GARD:17560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363483"}
subset: orphanet_rare {source="Orphanet:363483"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "teratoma of testis" EXACT [NCIT:C3877]
synonym: "teratoma of the testis" EXACT [NCIT:C3877, Orphanet:363483]
synonym: "testicular teratoma" EXACT [MONDO:ambiguous]
synonym: "testicular teratoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: EFO:1000573 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17560 {source="MONDO:GARD"}
xref: HP:0100616 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C62.9 {source="Orphanet:363483", source="Orphanet:363483/ntbt"}
xref: MEDGEN:68669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3877 {source="EFO:1000573", source="MONDO:equivalentTo"}
xref: Orphanet:363483 {source="MONDO:equivalentTo"}
xref: UMLS:C0238451 {source="MEDGEN:68669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005040 {source="EFO:1000573", source="NCIT:C3877/inferred"} ! germ cell tumor
is_a: MONDO:0010108 {source="NCIT:C3877"} ! testicular germ cell tumor
property_value: IAO:0000589 "testicular teratoma (disease)" xsd:string

[Term]
id: MONDO:0018194
name: obsolete sex cord-stromal tumor of testis
is_obsolete: true
replaced_by: MONDO:0003125

[Term]
id: MONDO:0018195
name: obsolete non-seminomatous germ cell tumor of testis
is_obsolete: true
replaced_by: MONDO:0002873

[Term]
id: MONDO:0018196
name: obsolete germ cell tumor of testis
is_obsolete: true
replaced_by: MONDO:0010108

[Term]
id: MONDO:0018197
name: mitochondrial DNA depletion syndrome, hepatocerebrorenal form
subset: gard_rare {source="GARD:17564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363534"}
subset: orphanet_rare {source="Orphanet:363534"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mtDNA depletion syndrome, hepatocerebrorenal form" EXACT [Orphanet:363534]
xref: GARD:17564 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:363534", source="Orphanet:363534/attributed", source="Orphanet:363534/ntbt"}
xref: MEDGEN:1674910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363534 {source="MONDO:equivalentTo"}
xref: UMLS:C5190602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674910"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:363534"} ! inherited renal tubular disease
is_a: MONDO:0100512 {source="Orphanet:363534", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome, hepatocerebral form

[Term]
id: MONDO:0018198
name: acute encephalopathy with biphasic seizures and late reduced diffusion
def: "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy." [Orphanet:363549]
subset: gard_rare {source="GARD:21552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363549"}
subset: orphanet_rare {source="Orphanet:363549"}
subset: rare
synonym: "acute infantile encephalopathy predominantly affecting the frontal lobes" EXACT [Orphanet:363549]
synonym: "AESD" EXACT ABBREVIATION [Orphanet:363549]
synonym: "AIEF" EXACT ABBREVIATION [Orphanet:363549]
xref: GARD:21552 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:363549/ntbt", source="Orphanet:363549"}
xref: MEDGEN:1645136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200552 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100247 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200901 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:363549 {source="MONDO:equivalentTo"}
xref: SCTID:766044005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707658 {source="MEDGEN:1645136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018199
name: new-onset refractory status epilepticus
def: "New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences." [Orphanet:363558]
subset: gard_rare {source="GARD:12244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363558"}
subset: orphanet_rare {source="Orphanet:363558"}
subset: rare
synonym: "De novo cryptogenic refractory multifocal febrile status epilepticus" RELATED [GARD:0012244]
synonym: "New onset refractory status epilepticus" RELATED [GARD:0012244]
synonym: "Norse" EXACT [Orphanet:363558]
xref: GARD:12244 {source="MONDO:GARD"}
xref: MEDGEN:1657271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363558 {source="MONDO:equivalentTo"}
xref: UMLS:C4749462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1657271"}
is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome
is_a: MONDO:0020073 {source="Orphanet:363558"} ! adolescent-onset epilepsy syndrome

[Term]
id: MONDO:0018200
name: obsolete acute encephalopathy with inflammation-mediated status epilepticus
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:363567"}
xref: GARD:21553 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:363567 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0018201
name: extragonadal germ cell tumor
def: "A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum)." [NCIT:C3918]
subset: disease_grouping
subset: gard_rare {source="GARD:9325", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:363579"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "extragonadal GCT, NOS" RELATED EXCLUDE [NCIT:C3918]
synonym: "extragonadal germ cell neoplasm" EXACT [NCIT:C3918]
synonym: "extragonadal germ cell neoplasms" EXACT [NCIT:C3918]
synonym: "extragonadal germ cell tumor" EXACT [NCIT:C3918]
synonym: "extragonadal germ cell tumors, NOS" RELATED EXCLUDE [NCIT:C3918]
synonym: "neoplasm of extragonadal germ cell" EXACT [NCIT:C3918]
synonym: "neoplasm of the extragonadal germ cell" EXACT [NCIT:C3918]
synonym: "primary extragonadal germ cell tumor" EXACT [NCIT:C3918]
synonym: "primary extragonadal germ cell tumour" EXACT OMO:0003005 []
synonym: "tumor of extragonadal germ cell" EXACT [NCIT:C3918]
synonym: "tumor of the extragonadal germ cell" EXACT [NCIT:C3918]
synonym: "tumour of extragonadal germ cell" EXACT OMO:0003005 []
synonym: "tumour of the extragonadal germ cell" EXACT OMO:0003005 []
xref: GARD:9325 {source="MONDO:GARD"}
xref: MEDGEN:75506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3918 {source="MONDO:equivalentTo"}
xref: Orphanet:363579 {source="MONDO:equivalentTo"}
xref: UMLS:C0262963 {source="MONDO:equivalentTo", source="MEDGEN:75506", source="MONDO:MEDGEN"}
is_a: MONDO:0005040 {source="MONDO:0018201/inferred", source="NCIT:C3918", source="Orphanet:363579"} ! germ cell tumor
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare

[Term]
id: MONDO:0018202
name: gonadal germ cell tumor
subset: disease_grouping
subset: gard_rare {source="GARD:21554", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:363582"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21554 {source="MONDO:GARD"}
xref: Orphanet:363582 {source="MONDO:equivalentTo"}
is_a: MONDO:0005040 {source="Orphanet:363582"} ! germ cell tumor
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018080"} ! rare

[Term]
id: MONDO:0018203
name: LMNA-related cardiocutaneous progeria syndrome
def: "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." [Orphanet:363618]
subset: gard_rare {source="GARD:21555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363618"}
subset: orphanet_rare {source="Orphanet:363618"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LCPS" EXACT ABBREVIATION [Orphanet:363618]
xref: GARD:21555 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:363618/attributed", source="Orphanet:363618/ntbt", source="Orphanet:363618"}
xref: MEDGEN:1667690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363618 {source="MONDO:equivalentTo"}
xref: UMLS:C4750858 {source="MEDGEN:1667690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-2825-0621"} ! hereditary disease
is_a: MONDO:0005267 {source="Orphanet:363618"} ! heart disorder
is_a: MONDO:0019303 {source="Orphanet:363618"} ! premature aging syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020029"} ! rare

[Term]
id: MONDO:0018204
name: 20q11.2 microduplication syndrome
def: "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features." [Orphanet:363659]
subset: gard_rare {source="GARD:21556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363659"}
subset: ordo_malformation_syndrome {source="Orphanet:363659"}
subset: orphanet_rare {source="Orphanet:363659"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dup(20)(q11.2)" EXACT [Orphanet:363659]
xref: GARD:21556 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:363659/attributed", source="Orphanet:363659/ntbt", source="Orphanet:363659"}
xref: MEDGEN:1639138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363659 {source="MONDO:equivalentTo"}
xref: SCTID:763061004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706257 {source="MEDGEN:1639138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:363659"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016970 {source="Orphanet:363659"} ! partial trisomy of the long arm of chromosome 20
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr20q11.2 ! 20q11.2 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:363659", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0018205
name: distal monosomy 1q
def: "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." [Orphanet:36367]
subset: gard_rare {source="GARD:16640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36367"}
subset: ordo_malformation_syndrome {source="Orphanet:36367"}
subset: orphanet_rare {source="Orphanet:36367"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal deletion 1q" EXACT [Orphanet:36367]
synonym: "distal monosomy type 1q" EXACT [MONDORULE:4, Orphanet:36367]
synonym: "monosomy 1qter" EXACT [Orphanet:36367]
synonym: "telomeric deletion 1q" EXACT [Orphanet:36367]
xref: GARD:16640 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:36367/attributed", source="Orphanet:36367/ntbt", source="Orphanet:36367"}
xref: MEDGEN:900126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:36367 {source="MONDO:equivalentTo"}
xref: SCTID:717633007 {source="MONDO:equivalentTo"}
xref: UMLS:C4273897 {source="MEDGEN:900126", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0022756 {source="Orphanet:36367"} ! chromosome 1q deletion
relationship: disease_arises_from_structure CHR:9606-chr1q {source="https://orcid.org/0000-0002-4142-7153"} ! 1q (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018206
name: childhood-onset autosomal recessive myopathy with external ophthalmoplegia
subset: gard_rare {source="GARD:17568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363677"}
subset: orphanet_rare {source="Orphanet:363677"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17568 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:363677", source="Orphanet:363677/attributed", source="Orphanet:363677/ntbt"}
xref: MEDGEN:1673410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363677 {source="MONDO:equivalentTo"}
xref: UMLS:C5192594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673410"}
is_a: MONDO:0011577 ! myopathy, proximal, and ophthalmoplegia
is_a: MONDO:0016112 {source="Orphanet:363677"} ! hereditary inclusion-body myopathy
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease

[Term]
id: MONDO:0018207
name: 2p13.2 microdeletion syndrome
def: "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." [Orphanet:363680]
subset: gard_rare {source="GARD:21557", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363680"}
subset: ordo_malformation_syndrome {source="Orphanet:363680"}
subset: orphanet_rare {source="Orphanet:363680"}
subset: rare
synonym: "Del(2)(p13.2)" EXACT [Orphanet:363680]
xref: GARD:21557 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:363680", source="Orphanet:363680/attributed", source="Orphanet:363680/ntbt"}
xref: MEDGEN:1662313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363680 {source="MONDO:equivalentTo"}
xref: UMLS:C4749460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1662313"}
is_a: MONDO:0015159 {source="Orphanet:363680"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016884 {source="Orphanet:363680"} ! partial deletion of the short arm of chromosome 2
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr2p13.2 ! 2p13.2 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:363680", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018208
name: neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
subset: gard_rare {source="GARD:17570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:363700"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:363700"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Von Recklinghausen disease due to NF1 mutation or intragenic deletion" EXACT [Orphanet:363700]
xref: GARD:17570 {source="MONDO:GARD"}
xref: ICD10CM:Q85.0 {source="Orphanet:363700", source="Orphanet:363700/attributed", source="Orphanet:363700/ntbt"}
xref: MEDGEN:1842855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363700 {source="MONDO:equivalentTo"}
xref: UMLS:C5779636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842855"}
is_a: MONDO:0018975 {source="Orphanet:363700"} ! neurofibromatosis type 1

[Term]
id: MONDO:0018209
name: Alexander disease type I
def: "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." [Orphanet:363717]
subset: gard_rare {source="GARD:17572", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:363717"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AxD type I" EXACT [Orphanet:363717]
xref: GARD:17572 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:363717/attributed", source="Orphanet:363717/ntbt", source="Orphanet:363717"}
xref: MEDGEN:1842668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200555 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:363717 {source="MONDO:equivalentTo"}
xref: UMLS:C5679915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842668"}
is_a: MONDO:0008752 {source="Orphanet:363717"} ! Alexander disease

[Term]
id: MONDO:0018210
name: Alexander disease type II
def: "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." [Orphanet:363722]
subset: gard_rare {source="GARD:17573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:363722"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AxD type II" EXACT [Orphanet:363722]
xref: GARD:17573 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:363722", source="Orphanet:363722/attributed", source="Orphanet:363722/ntbt"}
xref: MEDGEN:1842714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200556 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:363722 {source="MONDO:equivalentTo"}
xref: UMLS:C5679914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842714"}
is_a: MONDO:0008752 {source="Orphanet:363722"} ! Alexander disease

[Term]
id: MONDO:0018211
name: Balint syndrome
def: "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time." [https://github.com/obophenotype/human-phenotype-ontology/issues/3570, Orphanet:363746]
comment: Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. {source="https://www.ncbi.nlm.nih.gov/pubmed/24607223"}
subset: gard_rare {source="GARD:21558", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363746"}
subset: orphanet_rare {source="Orphanet:363746"}
subset: rare
synonym: "Balint-Holmes syndrome" EXACT [Orphanet:363746]
synonym: "optic ataxia-gaze apraxia-simultanagnosia syndrome" EXACT [Orphanet:363746]
synonym: "psychic paralysis of visual fixation" EXACT [https://orcid.org/0000-0002-6601-2165, PMID:13208876]
xref: GARD:21558 {source="MONDO:GARD"}
xref: ICD10CM:H51.8 {source="Orphanet:363746", source="Orphanet:363746/ntbt"}
xref: MEDGEN:1646315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363746 {source="MONDO:equivalentTo"}
xref: SCTID:765212008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646315"}
is_a: MONDO:0005071 {source="Orphanet:363746"} ! nervous system disorder
relationship: disease_has_feature HP:0000657 ! Oculomotor apraxia
relationship: disease_has_feature MONDO:0000678 ! simultanagnosia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0018212
name: familial cervical artery dissection
def: "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:18823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36382"}
subset: orphanet_rare {source="Orphanet:36382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial CAD" EXACT [Orphanet:36382]
synonym: "hereditary CAD" EXACT [Orphanet:36382]
synonym: "hereditary cervical artery dissection" EXACT [MONDO:patterns/hereditary, Orphanet:36382]
xref: GARD:18823 {source="MONDO:GARD"}
xref: ICD10CM:I72.0 {source="Orphanet:36382", source="Orphanet:36382/attributed", source="Orphanet:36382/ntbt"}
xref: ICD10CM:I72.5 {source="Orphanet:36382", source="Orphanet:36382/attributed", source="Orphanet:36382/ntbt"}
xref: MEDGEN:1659372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:36382 {source="MONDO:equivalentTo"}
xref: UMLS:C4755308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1659372"}
is_a: MONDO:0006061 {source="https://orcid.org/0000-0001-5208-3432"} ! cervical artery dissection
intersection_of: MONDO:0006061 ! cervical artery dissection
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare

[Term]
id: MONDO:0018213
name: hereditary sensory and autonomic neuropathy type 1
def: "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." [Orphanet:36386]
subset: gard_rare {source="GARD:6635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1237"}
subset: ordo_disorder {source="Orphanet:36386"}
subset: orphanet_rare {source="Orphanet:36386"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [DOID:0070162, Orphanet:36386]
synonym: "hereditary sensory neuropathy type 1" RELATED [GARD:0006635]
synonym: "Hereditary Sensory Neuropathy Type I" EXACT [NORD:1237]
synonym: "HSAN 1" RELATED [GARD:0006635]
synonym: "HSAN1" EXACT ABBREVIATION [DOID:0070162, Orphanet:36386]
synonym: "HSN1" RELATED ABBREVIATION [GARD:0006635]
synonym: "neuropathy hereditary sensory and autonomic type 1" RELATED [GARD:0006635]
synonym: "neuropathy hereditary sensory radicular, autosomal dominant" RELATED [GARD:0006635]
xref: DOID:0070162 {source="MONDO:equivalentTo"}
xref: GARD:6635 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:36386/attributed", source="Orphanet:36386/ntbt", source="Orphanet:36386"}
xref: icd11.foundation:1989773046 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:36386"}
xref: MEDGEN:5645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1237 {source="MONDO:NORD"}
xref: Orphanet:36386 {source="MONDO:equivalentTo", source="DOID:0070162"}
xref: PMID:18348718 {source="DOID:0070162"}
xref: SCTID:230553002 {source="DOID:0070162"}
xref: SCTID:397734008 {source="MONDO:equivalentTo", source="DOID:0070162"}
xref: SCTID:52647008 {source="DOID:0070162"}
xref: SCTID:87920002 {source="DOID:0070162"}
xref: UMLS:C0020071 {source="MEDGEN:5645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="DOID:0070162", source="Orphanet:36386/inferred"} ! hereditary sensory and autonomic neuropathy
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis

[Term]
id: MONDO:0018214
name: generalized epilepsy with febrile seizures plus
def: "A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS)." [Orphanet:36387]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18641", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:36387"}
subset: orphanet_rare {source="Orphanet:36387"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, generalized, with febrile seizures plus" EXACT [OMIMPS:604233]
synonym: "GEFS+" EXACT [DOID:0060170, Orphanet:36387]
synonym: "generalised epilepsy with febrile seizures-plus" RELATED OMO:0003005 []
synonym: "generalized epilepsy with febrile seizures plus" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40005/]
synonym: "generalized epilepsy with febrile seizures-plus" RELATED [Orphanet:36387]
synonym: "genetic epilepsy with febrile seizures plus" EXACT [https://www.clinicalgenome.org/affiliation/40005/, https://www.epilepsydiagnosis.org/syndrome/fbp-overview.html, Orphanet:36387]
synonym: "genetic epilepsy with febrile seizures-plus" EXACT [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387]
xref: DOID:0060170 {source="MONDO:equivalentTo"}
xref: GARD:18641 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="DOID:0060170", source="Orphanet:36387", source="Orphanet:36387/attributed", source="Orphanet:36387/ntbt"}
xref: MEDGEN:503203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565808 {source="MONDO:equivalentTo"}
xref: NCIT:C122811 {source="MONDO:equivalentTo"}
xref: OMIMPS:604233 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:36387 {source="MONDO:equivalentTo", source="DOID:0060170"}
xref: SCTID:699688008 {source="MONDO:equivalentTo"}
xref: UMLS:C3502809 {source="MEDGEN:503203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="https://www.clinicalgenome.org/affiliation/40005/"} ! epilepsy
relationship: disease_has_feature HP:0002069 ! Bilateral tonic-clonic seizure
relationship: disease_has_feature HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years)
relationship: excluded_subClassOf MONDO:0005579 {source="DOID:0060170", source="MESH:C565808", source="NCIT:C122811", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! epilepsy, idiopathic generalized
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604233"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/fbp-overview.html" xsd:anyURI

[Term]
id: MONDO:0018215
name: paraneoplastic neurologic syndrome
def: "A paraneoplastic syndrome that involves the nervous system." [MONDO:patterns/location]
subset: disease_grouping
subset: gard_rare {source="GARD:7326", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:36388"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nervous system paraneoplastic syndrome" EXACT [MONDO:patterns/location]
synonym: "paraneoplastic cerebellar degeneration" NARROW [Orphanet:36388]
synonym: "paraneoplastic syndrome of nervous system" EXACT [MONDO:design_pattern]
synonym: "PCD" EXACT ABBREVIATION [Orphanet:36388]
synonym: "PNS" EXACT ABBREVIATION [Orphanet:36388]
xref: GARD:7326 {source="MONDO:GARD"}
xref: ICD9:331.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10072106 {source="Orphanet:36388/e", source="Orphanet:36388"}
xref: MEDGEN:155656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:36388 {source="MONDO:equivalentTo"}
xref: SCTID:192877007 {source="MONDO:equivalentTo"}
xref: UMLS:C0751911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155656"}
is_a: MONDO:0005071 {source="Orphanet:36388"} ! nervous system disorder
is_a: MONDO:0021073 {source="MONDO:Redundant"} ! paraneoplastic syndrome
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: disease_has_location UBERON:0001016 ! nervous system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0018216
name: Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome
subset: gard_rare {source="GARD:17576", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:363958"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:363958"}
subset: rare
synonym: "17q21.31 recurrent microdeletion syndrome" EXACT [DECIPHER:57]
synonym: "Del(17)(q21.31)" EXACT [Orphanet:363958]
synonym: "monosomy 17q21.31" EXACT [Orphanet:363958]
xref: DECIPHER:57 {source="MONDO:equivalentTo"}
xref: DOID:0050880 {source="MONDO:equivalentTo"}
xref: DOID:0070076 {source="MONDO:equivalentObsolete"}
xref: GARD:17576 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:363958/attributed", source="Orphanet:363958/ntbt", source="Orphanet:363958"}
xref: MESH:C566476 {source="MONDO:equivalentTo"}
xref: Orphanet:363958 {source="MONDO:equivalentTo"}
xref: SCTID:717338006 {source="MONDO:equivalentTo"}
is_a: MONDO:0012496 {source="Orphanet:363958"} ! Koolen-de Vries syndrome
is_a: MONDO:0016915 {source="Orphanet:363958"} ! partial deletion of the long arm of chromosome 17
intersection_of: MONDO:0012496 ! Koolen-de Vries syndrome
intersection_of: disease_arises_from_structure CHR:9606-chr17q21.31 ! 17q21.31 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4174" xsd:anyURI

[Term]
id: MONDO:0018217
name: Koolen-de Vries syndrome due to a point mutation
subset: gard_rare {source="GARD:21559", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:363965"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:363965"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21559 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:363965/attributed", source="Orphanet:363965/ntbt", source="Orphanet:363965"}
xref: MEDGEN:1843302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363965 {source="MONDO:equivalentTo"}
xref: UMLS:C5680974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843302"}
is_a: MONDO:0012496 {source="Orphanet:363965"} ! Koolen-de Vries syndrome
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0018218
name: autosomal recessive cerebral atrophy
subset: gard_rare {source="GARD:21560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:363969"}
subset: orphanet_rare {source="Orphanet:363969"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21560 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:363969/attributed", source="Orphanet:363969/ntbt", source="Orphanet:363969"}
xref: MEDGEN:1653890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:363969 {source="MONDO:equivalentTo"}
xref: UMLS:C4755252 {source="MEDGEN:1653890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024237 {source="Orphanet:363969"} ! inherited neurodegenerative disorder
relationship: disease_has_feature HP:0002059 ! Cerebral atrophy
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0018221
name: immune hydrops fetalis
def: "Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility." [Orphanet:364013]
subset: gard_rare {source="GARD:21561", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:364013"}
subset: rare
synonym: "IHF" EXACT ABBREVIATION [Orphanet:364013]
synonym: "immune fetal edema" EXACT [Orphanet:364013]
synonym: "immune fetal hydrops" EXACT [Orphanet:364013]
synonym: "immune foetal hydrops" EXACT OMO:0003005 []
synonym: "immune foetal oedema" EXACT OMO:0003005 []
synonym: "immune HF" EXACT [Orphanet:364013]
xref: GARD:21561 {source="MONDO:GARD"}
xref: ICD10CM:P56.0 {source="Orphanet:364013", source="Orphanet:364013/e"}
xref: icd11.foundation:1589938690 {source="Orphanet:364013", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:773.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:105328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111904 {source="MONDO:equivalentTo"}
xref: Orphanet:364013 {source="MONDO:equivalentTo"}
xref: SCTID:15539009 {source="MONDO:equivalentTo"}
xref: UMLS:C0455990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105328"}
is_a: MONDO:0015193 {source="NCIT:C111904", source="Orphanet:364013"} ! hydrops fetalis

[Term]
id: MONDO:0018222
name: obsolete X-linked intellectual disability due to GRIA3 anomalies
subset: ordo_disorder {source="Orphanet:364028"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17581 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:F72 {source="Orphanet:364028", source="Orphanet:364028/attributed", source="Orphanet:364028/ntbt"}
xref: Orphanet:364028 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6695" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018223
name: systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
def: "Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype." [Orphanet:364033]
subset: gard_rare {source="GARD:21562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:364033"}
subset: orphanet_rare {source="Orphanet:364033"}
subset: rare
synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" BROAD [DOID:0070324]
synonym: "systemic EBV+ T-cell LPD of childhood" EXACT [Orphanet:364033]
synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT [DOID:0070324, NCIT:C80374]
synonym: "systemic EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [Orphanet:364033]
synonym: "systemic EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [NCIT:C80374]
xref: DOID:0070324 {source="MONDO:equivalentTo"}
xref: GARD:21562 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="Orphanet:364033", source="Orphanet:364033/ntbt", source="DOID:0070324"}
xref: ICDO:9724/3 {source="NCIT:C80374"}
xref: MEDGEN:929091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008232 {source="DOID:0070324"}
xref: NCIT:C80374 {source="DOID:0070324", source="MONDO:equivalentTo"}
xref: Orphanet:364033 {source="DOID:0070324", source="MONDO:equivalentTo"}
xref: SCTID:450906003 {source="DOID:0070324"}
xref: SCTID:721311006 {source="MONDO:equivalentTo"}
xref: UMLS:C4303422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929091"}
is_a: MONDO:0003659 {source="DOID:0070324"} ! pediatric lymphoma
is_a: MONDO:0006188 {source="NCIT:C80374"} ! EBV-positive T-cell lymphoproliferative disorder of childhood
is_a: MONDO:0015760 {source="NCIT:C80374/inferred", source="Orphanet:364033"} ! T-cell non-Hodgkin lymphoma
is_a: MONDO:0017343 {source="Orphanet:364033"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder

[Term]
id: MONDO:0018224
name: hydroa vacciniforme-like lymphoma
def: "A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin." [NCIT:P378]
subset: gard_rare {source="GARD:21563", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:364039"}
subset: orphanet_rare {source="Orphanet:364039"}
subset: rare
synonym: "angiocentric cutaneous T-cell lymphoma of childhood" EXACT [Orphanet:364039]
synonym: "hV-like lymphoma" EXACT [NCIT:C45327]
synonym: "HVLL" EXACT ABBREVIATION [Orphanet:364039]
synonym: "hydroa vacciniforme-like cutaneous T-cell lymphoma" EXACT [NCIT:C45327]
synonym: "hydroa vacciniforme-like lymphoma" EXACT [NCIT:C45327]
synonym: "hydroa vacciniforme-like lymphoproliferative disorder" EXACT [NCIT:C45327]
synonym: "hydroa-like cutaneous T-cell lymphoma" EXACT [Orphanet:364039]
xref: GARD:21563 {source="MONDO:GARD"}
xref: ICD10CM:C84.5 {source="Orphanet:364039", source="Orphanet:364039/ntbt"}
xref: ICDO:9725/3 {source="NCIT:C45327"}
xref: MEDGEN:317758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45327 {source="MONDO:equivalentTo"}
xref: Orphanet:364039 {source="MONDO:equivalentTo"}
xref: SCTID:763719001 {source="MONDO:equivalentTo"}
xref: UMLS:C1708397 {source="MONDO:equivalentTo", source="MEDGEN:317758", source="MONDO:MEDGEN"}
is_a: MONDO:0006188 {source="NCIT:C45327"} ! EBV-positive T-cell lymphoproliferative disorder of childhood
is_a: MONDO:0015760 {source="Orphanet:364039"} ! T-cell non-Hodgkin lymphoma
is_a: MONDO:0017343 {source="Orphanet:364039"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder

[Term]
id: MONDO:0018225
name: ALK-positive large B-cell lymphoma
def: "Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis." [Orphanet:364043]
subset: gard_rare {source="GARD:21564", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:364043"}
subset: orphanet_rare {source="Orphanet:364043"}
subset: rare
synonym: "ALK+ large B-cell lymphoma" EXACT [Orphanet:364043]
synonym: "ALK+ LBCL" EXACT [Orphanet:364043]
synonym: "ALK-DLBCL" EXACT [NCIT:C7225]
synonym: "ALK-positive large B-cell lymphoma" EXACT [NCIT:C7225]
synonym: "diffuse large B-cell lymphoma with expression of full-length ALK" EXACT [NCIT:C7225]
synonym: "diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase" EXACT [NCIT:C7225]
xref: GARD:21564 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:364043", source="Orphanet:364043/ntbt"}
xref: icd11.foundation:2077559619 {source="Orphanet:364043", source="MONDO:equivalentTo"}
xref: ICDO:9737/3 {source="NCIT:C7225"}
xref: MEDGEN:232429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7225 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:364043 {source="MONDO:equivalentTo"}
xref: SCTID:715950008 {source="MONDO:equivalentTo"}
xref: UMLS:C1333294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232429"}
is_a: MONDO:0018905 {source="NCIT:C7225", source="Orphanet:364043"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0018226
name: infantile epileptic-dyskinetic encephalopathy
def: "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." [Orphanet:364063]
subset: gard_rare {source="GARD:17582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:364063"}
subset: orphanet_rare {source="Orphanet:364063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17582 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:364063/attributed", source="Orphanet:364063/ntbt", source="Orphanet:364063"}
xref: MEDGEN:1637882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567924 {source="MONDO:equivalentTo"}
xref: Orphanet:364063 {source="MONDO:equivalentTo"}
xref: UMLS:C4552072 {source="MEDGEN:1637882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003441 {source="https://orcid.org/0000-0002-4142-7153"} ! dystonic disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:364063", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy
relationship: has_characteristic HP:0003593 ! Infantile onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018227
name: hypocomplementemic urticarial vasculitis
def: "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations." [Orphanet:36412]
subset: gard_rare {source="GARD:6725", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36412"}
subset: orphanet_rare {source="Orphanet:36412"}
subset: rare
synonym: "anti-C1q vasculitis" EXACT [Orphanet:36412]
synonym: "Mac Duffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412]
synonym: "Mac Duffie syndrome" EXACT [Orphanet:36412]
synonym: "McDuffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412]
synonym: "McDuffie syndrome" EXACT [Orphanet:36412]
xref: GARD:6725 {source="MONDO:GARD"}
xref: ICD10CM:M31.8 {source="Orphanet:36412/ntbt", source="Orphanet:36412"}
xref: icd11.foundation:629572966 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:36412"}
xref: MEDGEN:83360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:36412 {source="MONDO:equivalentTo"}
xref: SCTID:239945009 {source="MONDO:equivalentTo"}
xref: UMLS:C0343206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83360"}
is_a: MONDO:0015491 {source="Orphanet:36412"} ! immune complex mediated vasculitis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:36412", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis" xsd:anyURI {source="GARD:0006725"}

[Term]
id: MONDO:0018228
name: bipartite talus
def: "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." [Orphanet:364198]
subset: gard_rare {source="GARD:21566", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:364198"}
subset: ordo_morphological_anomaly {source="Orphanet:364198"}
subset: orphanet_rare {source="Orphanet:364198"}
subset: rare
xref: GARD:21566 {source="MONDO:GARD"}
xref: ICD10CM:Q66.8 {source="Orphanet:364198", source="Orphanet:364198/attributed", source="Orphanet:364198/ntbt"}
xref: MEDGEN:1631166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:364198 {source="MONDO:equivalentTo"}
xref: SCTID:763128009 {source="MONDO:equivalentTo"}
xref: UMLS:C4706298 {source="MEDGEN:1631166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:26936066", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018229
name: Stevens-Johnson syndrome
def: "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." [Orphanet:36426]
subset: gard_rare {source="GARD:7700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:36426"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dermatostomatitis, Stevens Johnson type" EXACT [Orphanet:36426]
synonym: "erythema multiforme major" RELATED [NCIT:C79484]
synonym: "hypersensitivity syndrome, carbamazepine-induced, susceptibility to" RELATED [OMIM:608579]
synonym: "severe cutaneous adverse reaction, susceptibility to" RELATED [OMIM:608579]
synonym: "Stevens Johnson syndrome" EXACT [NCIT:C79484]
synonym: "Stevens-Johnson syndrome, susceptibility to" RELATED [OMIM:608579]
synonym: "toxic Epidermal necrolysis, susceptibility to" RELATED [OMIM:608579]
xref: DOID:0050426 {source="EFO:0004276", source="MONDO:equivalentTo"}
xref: EFO:0004276 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7700 {source="MONDO:GARD"}
xref: ICD10CM:L51.1 {source="Orphanet:36426", source="Orphanet:36426/ntbt", source="MONDO:equivalentTo", source="DOID:0050426"}
xref: ICD10CM:L51.2 {source="DOID:0050426"}
xref: icd11.foundation:450167795 {source="Orphanet:36426", source="MONDO:equivalentTo"}
xref: ICD9:695.12 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:695.13 {source="EFO:0004276", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0050426"}
xref: ICD9:695.15 {source="DOID:0050426"}
xref: MedDRA:10042033 {source="Orphanet:36426", source="Orphanet:36426/e"}
xref: MEDGEN:20955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013262 {source="Orphanet:36426", source="EFO:0004276", source="MONDO:equivalentTo", source="Orphanet:36426/e", source="DOID:0050426"}
xref: NANDO:1200245 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100290 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201006 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C79484 {source="EFO:0004276", source="MONDO:equivalentTo", source="DOID:0050426"}
xref: NCIT:C79777 {source="DOID:0050426"}
xref: OMIM:608579 {source="Orphanet:36426", source="EFO:0004276", source="Orphanet:36426/ntbt", source="MONDO:equivalentTo"}
xref: Orphanet:36426 {source="OMIM:608579", source="MONDO:equivalentTo"}
xref: SCTID:156362004 {source="DOID:0050426"}
xref: SCTID:200919006 {source="DOID:0050426"}
xref: SCTID:23067006 {source="DOID:0050426"}
xref: SCTID:238819008 {source="DOID:0050426"}
xref: SCTID:267848009 {source="DOID:0050426"}
xref: SCTID:403609001 {source="DOID:0050426"}
xref: SCTID:73442001 {source="EFO:0004276", source="MONDO:equivalentTo", source="DOID:0050426"}
xref: UMLS:C0038325 {source="MEDGEN:20955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C79484"} ! syndromic disease
is_a: MONDO:0019810 {source="Orphanet:36426"} ! toxic epidermal necrolysis
relationship: excluded_subClassOf MONDO:0005594 {source="EFO:0004276", source="https://orcid.org/0000-0001-5208-3432"} ! severe cutaneous adverse reaction

[Term]
id: MONDO:0018230
name: skeletal dysplasia
def: "Any Mendelian diseases that affects growth and development of the skeleton." [https://orcid.org/0000-0001-5208-3432, https://www.skeldys.org/, PMID:31633310]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:364526"}
subset: otar {source="MONDO:OTAR"}
synonym: "Mendelian skeletal dysplasia" EXACT [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1780-5230]
synonym: "primary bone dysplasia" EXACT [Orphanet:364526]
synonym: "primary osteodysplasia" EXACT [Orphanet:364526]
synonym: "primary skeletal dysplasia" EXACT [Orphanet:364526]
xref: MEDGEN:98053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:364526 {source="MONDO:equivalentTo"}
xref: UMLS:C0410528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98053"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disease
is_a: MONDO:0005381 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! bone disorder
relationship: excluded_subClassOf MONDO:0005497 {source="Orphanet:364526", source="https://orcid.org/0000-0001-5208-3432"} ! bone development disease
relationship: excluded_subClassOf MONDO:0015958 {source="Orphanet:364526", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic bone disease
relationship: excluded_subClassOf MONDO:0018457 {source="Orphanet:364526", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic bone development disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015328"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4995" xsd:anyURI

[Term]
id: MONDO:0018231
name: obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
comment: Reason: out of scope. Term to consider: MONDO:0018230.
subset: ordo_group_of_disorders {source="Orphanet:364531"}
synonym: "primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531]
synonym: "primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531]
xref: GARD:21568 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:364531 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI
is_obsolete: true
consider: MONDO:0018230

[Term]
id: MONDO:0018232
name: obsolete primary bone dysplasia with micromelia
comment: Reason: out of scope. Term to consider: MONDO:0018230.
subset: ordo_group_of_disorders {source="Orphanet:364536"}
synonym: "primary osteodysplasia with micromelia" EXACT [Orphanet:364536]
synonym: "primary skeletal dysplasia with micromelia" EXACT [Orphanet:364536]
xref: GARD:21569 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:364536 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI
is_obsolete: true
consider: MONDO:0018230

[Term]
id: MONDO:0018233
name: otopalatodigital syndrome spectrum disorder
def: "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects." [Orphanet:364541]
subset: disease_grouping
subset: gard_rare {source="GARD:21570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:364541"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OPD spectrum disorder" EXACT [Orphanet:364541]
synonym: "OPSD" EXACT ABBREVIATION [Orphanet:364541]
xref: DOID:0111782 {source="MONDO:equivalentTo"}
xref: GARD:21570 {source="MONDO:GARD"}
xref: MEDGEN:411701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:364541 {source="MONDO:equivalentTo"}
xref: UMLS:C2748918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411701"}
is_a: MONDO:0018230 {source="Orphanet:364541"} ! skeletal dysplasia
is_a: MONDO:0019690 {source="Orphanet:364541"} ! filamin-related bone disorder

[Term]
id: MONDO:0018234
name: dysostosis
def: "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones." [https://orcid.org/0000-0002-0736-9199, https://www.sciencedirect.com/topics/medicine-and-dentistry/dysostosis]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: disease_grouping
subset: gard_rare {source="GARD:21571", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:364559"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysostosis" EXACT [NCIT:C34560]
xref: DOID:1934 {source="MONDO:equivalentTo"}
xref: GARD:21571 {source="MONDO:GARD"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004413 {source="MONDO:equivalentTo", source="DOID:1934"}
xref: NCIT:C34560 {source="MONDO:equivalentTo", source="DOID:1934"}
xref: Orphanet:364559 {source="MONDO:equivalentTo"}
xref: SCTID:109420003 {source="MONDO:equivalentTo", source="DOID:1934"}
xref: UMLS:C0013393 {source="MEDGEN:4430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 {source="MONDO:Redundant", source="Orphanet:364559"} ! bone disorder
is_a: MONDO:0005497 {source="DOID:1934", source="MONDO:Redundant", source="Orphanet:364559"} ! bone development disease
intersection_of: MONDO:0005497 ! bone development disease
intersection_of: disease_disrupts GO:0001503 ! ossification
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015328", source="MONDO:0019684"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4994" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7861" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0018235
name: obsolete dysostosis with limb anomaly as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:364568"}
xref: GARD:21572 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:364568 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018236
name: obsolete dysostosis with limb and face anomalies as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:364571"}
xref: GARD:21573 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:364571 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018237
name: acrofacial dysostosis
subset: disease_grouping
subset: gard_rare {source="GARD:21574", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:364574"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0060379 {source="MONDO:equivalentTo"}
xref: GARD:21574 {source="MONDO:GARD"}
xref: icd11.foundation:1702160042 {source="Orphanet:364574", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:272278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35795 {source="MONDO:equivalentTo"}
xref: Orphanet:364574 {source="MONDO:equivalentTo"}
xref: UMLS:C1332140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272278"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="DOID:0060379", source="MONDO:Redundant", source="NCIT:C35795", source="Orphanet:364574/inferred"} ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018238
name: obsolete rare bone disease related to a common gene or pathway defect
comment: This is a grouping term that is probably not used clinically.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1726" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005381

[Term]
id: MONDO:0018239
name: obsolete aggrecan-related bone disorder
xref: GARD:21576 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:364817 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018240
name: TRPV4-related bone disorder
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:21577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:364820"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TRPV4-related skeletal dysplasia" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40065]
xref: GARD:21577 {source="MONDO:GARD"}
xref: MEDGEN:1842686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201021 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:364820 {source="MONDO:equivalentTo"}
xref: UMLS:C5680977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842686"}
is_a: MONDO:0005381 {source="Orphanet:364820"} ! bone disorder
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6715" xsd:anyURI

[Term]
id: MONDO:0018241
name: obsolete primary short bowel syndrome
subset: ordo_group_of_disorders {source="Orphanet:365563"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:21578 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q41.0 {source="Orphanet:365563/attributed", source="Orphanet:365563/ntbt", source="Orphanet:365563"}
xref: Orphanet:365563 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018242
name: autoimmune hypoparathyroidism
def: "An autoimmune form of hypoparathyroidism." [MONDO:patterns/autoimmune]
subset: gard_rare {source="GARD:18824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:36913"}
subset: orphanet_rare {source="Orphanet:36913"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autoimmune hypoparathyroidism" EXACT [MONDO:ambiguous]
synonym: "autoimmune hypoparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:18824 {source="MONDO:GARD"}
xref: HP:0011771 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E20.8 {source="Orphanet:36913/ntbt", source="Orphanet:36913"}
xref: icd11.foundation:1790437089 {source="Orphanet:36913", source="MONDO:equivalentTo"}
xref: MEDGEN:488838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:36913 {source="MONDO:equivalentTo"}
xref: SCTID:75316000 {source="MONDO:equivalentTo"}
xref: UMLS:C0271865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488838"}
is_a: MONDO:0001220 {source="Orphanet:36913"} ! hypoparathyroidism
intersection_of: MONDO:0001220 ! hypoparathyroidism
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015896"} ! rare
property_value: IAO:0000589 "autoimmune hypoparathyroidism (disease)" xsd:string

[Term]
id: MONDO:0018243
name: intellectual disability-hyperkinetic movement-truncal ataxia syndrome
subset: gard_rare {source="GARD:21579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369847"}
subset: orphanet_rare {source="Orphanet:369847"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21579 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:369847", source="Orphanet:369847/attributed", source="Orphanet:369847/ntbt"}
xref: MEDGEN:1683856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:369847 {source="MONDO:equivalentTo"}
xref: UMLS:C5192595 {source="MEDGEN:1683856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="MONDO:Redundant", source="Orphanet:369847"} ! movement disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:369847", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015957", source="MONDO:0015983", source="MONDO:0017645"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018244
name: obesity due to SIM1 deficiency
subset: gard_rare {source="GARD:21580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:369873"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21580 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:369873", source="Orphanet:369873/attributed", source="Orphanet:369873/ntbt"}
xref: MEDGEN:1680592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:369873 {source="MONDO:equivalentTo"}
xref: UMLS:C5191050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680592"}
is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10882 {source="Orphanet:369873", source="https://orcid.org/0000-0001-5208-3432"} ! SIM1

[Term]
id: MONDO:0018245
name: 2p21 microdeletion syndrome without cystinuria
def: "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." [Orphanet:369881]
subset: gard_rare {source="GARD:21581", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369881"}
subset: ordo_malformation_syndrome {source="Orphanet:369881"}
subset: orphanet_rare {source="Orphanet:369881"}
subset: rare
synonym: "Del(2)(p21) without cystinuria" EXACT [Orphanet:369881]
xref: GARD:21581 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:369881/attributed", source="Orphanet:369881/ntbt", source="Orphanet:369881"}
xref: MEDGEN:1666351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:369881 {source="MONDO:equivalentTo"}
xref: UMLS:C4749458 {source="MEDGEN:1666351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016884 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 2
relationship: disease_arises_from_structure CHR:9606-chr2p21 {source="https://orcid.org/0000-0002-4142-7153"} ! 2p21 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018246
name: obsolete homozygous 2p21 microdeletion syndrome
subset: ordo_group_of_disorders {source="Orphanet:369886"}
subset: otar {source="MONDO:OTAR"}
synonym: "2p21 contiguous gene deletion syndrome" EXACT [Orphanet:369886]
xref: GARD:21582 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q93.5 {source="Orphanet:369886/attributed", source="Orphanet:369886/ntbt", source="Orphanet:369886"}
xref: Orphanet:369886 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6741" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018247
name: CADDS
subset: gard_rare {source="GARD:12472", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369942"}
subset: orphanet_rare {source="Orphanet:369942"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CADDS" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, OMIM:300475]
synonym: "contiguous ABCD1 DXS1357E deletion syndrome" EXACT [Orphanet:369942]
synonym: "Zellweger-like contiguous gene deletion syndrome" EXACT [Orphanet:369942]
xref: GARD:12472 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:369942", source="Orphanet:369942/attributed", source="Orphanet:369942/ntbt"}
xref: OMIM:300475 {source="Orphanet:369942", source="Orphanet:369942/ntbt", source="MONDO:includedEntryInOMIM"}
xref: Orphanet:369942 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005066 {source="Orphanet:369942"} ! metabolic disease
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:369942"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019046 {source="Orphanet:369942"} ! leukodystrophy
is_a: MONDO:0019053 {source="Orphanet:369942"} ! peroxisomal disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5809" xsd:anyURI

[Term]
id: MONDO:0018248
name: intellectual disability-seizures-macrocephaly-obesity syndrome
def: "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." [Orphanet:369950]
subset: gard_rare {source="GARD:21583", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369950"}
subset: orphanet_rare {source="Orphanet:369950"}
subset: rare
synonym: "Der(8)t(8;12)" EXACT [Orphanet:369950]
xref: GARD:21583 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:369950", source="Orphanet:369950/attributed", source="Orphanet:369950/ntbt"}
xref: MEDGEN:1650833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:369950 {source="MONDO:equivalentTo"}
xref: UMLS:C4749455 {source="MEDGEN:1650833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:369950"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369950", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018249
name: finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
subset: gard_rare {source="GARD:21584", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369979"}
subset: ordo_malformation_syndrome {source="Orphanet:369979"}
subset: orphanet_rare {source="Orphanet:369979"}
subset: rare
xref: GARD:21584 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:369979", source="Orphanet:369979/attributed", source="Orphanet:369979/ntbt"}
xref: MEDGEN:1673147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:369979 {source="MONDO:equivalentTo"}
xref: UMLS:C5190599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673147"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0018250
name: diffuse palmoplantar keratoderma with painful fissures
subset: gard_rare {source="GARD:17595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:369999"}
subset: orphanet_rare {source="Orphanet:369999"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17595 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:369999/attributed", source="Orphanet:369999/ntbt", source="Orphanet:369999"}
xref: MEDGEN:1660049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:369999 {source="MONDO:equivalentTo"}
xref: UMLS:C4755309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1660049"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017666 {source="https://orcid.org/0000-0001-5208-3432"} ! diffuse palmoplantar keratoderma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018251
name: obsolete glycogen storage disease due to phosphorylase kinase deficiency
def: "OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." [Orphanet:370]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease'
subset: ordo_group_of_disorders {source="Orphanet:370"}
synonym: "glycogen storage disease due to PhK deficiency" EXACT [Orphanet:370]
synonym: "glycogen storage disease IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "glycogen storage disease type 9" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370]
synonym: "glycogen storage disease type IX" EXACT [DOID:0050594, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:3, Orphanet:370]
synonym: "glycogenosis due to phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370]
synonym: "glycogenosis type 9" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370]
synonym: "glycogenosis type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370]
synonym: "GSD due to phosphorylase kinase deficiency" EXACT [Orphanet:370]
synonym: "GSD IX" EXACT [https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix, https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "GSD type 9" EXACT [Orphanet:370]
synonym: "GSD type IX" EXACT [Orphanet:370]
synonym: "GSDIX" EXACT ABBREVIATION [https://www.ncbi.nlm.nih.gov/books/NBK55061/]
synonym: "gycogenosis due to PhK deficiency" EXACT [Orphanet:370]
synonym: "phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, NCIT:C122662]
xref: DOID:0050594 {source="MONDO:obsoleteEquivalent"}
xref: GARD:18691 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E74.0 {source="Orphanet:370/inclusion", source="Orphanet:370", source="Orphanet:370/ntbt"}
xref: MESH:C580130 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:1201020 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200544 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122662 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:370 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:235908005 {source="MONDO:obsoleteEquivalent", source="MONDO:preferredExternal"}
xref: SCTID:40191005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002412

[Term]
id: MONDO:0018252
name: focal palmoplantar keratoderma with joint keratoses
subset: gard_rare {source="GARD:17596", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370002"}
subset: orphanet_rare {source="Orphanet:370002"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17596 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:370002", source="Orphanet:370002/attributed", source="Orphanet:370002/ntbt"}
xref: MEDGEN:1667811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370002 {source="MONDO:equivalentTo"}
xref: UMLS:C4755302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1667811"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0017672 {source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0018253
name: intellectual disability-facial dysmorphism-hand anomalies syndrome
subset: gard_rare {source="GARD:21585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370010"}
subset: ordo_malformation_syndrome {source="Orphanet:370010"}
subset: orphanet_rare {source="Orphanet:370010"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21585 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:370010/attributed", source="Orphanet:370010/ntbt", source="Orphanet:370010"}
xref: MEDGEN:1655582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370010 {source="MONDO:equivalentTo"}
xref: UMLS:C4750848 {source="MEDGEN:1655582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:370010"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:370010", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018254
name: spondyloepimetaphyseal dysplasia, Isidor type
subset: gard_rare {source="GARD:21586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370015"}
subset: orphanet_rare {source="Orphanet:370015"}
subset: rare
xref: GARD:21586 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:370015/attributed", source="Orphanet:370015/ntbt", source="Orphanet:370015"}
xref: MEDGEN:1676518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370015 {source="MONDO:equivalentTo"}
xref: UMLS:C5190629 {source="MEDGEN:1676518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:370015", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0018255
name: spondylometaphyseal dysplasia, Czarny-Ratajczak type
subset: gard_rare {source="GARD:21587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:21587 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:370019/attributed", source="Orphanet:370019/ntbt", source="Orphanet:370019"}
xref: MEDGEN:1681091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370019 {source="MONDO:equivalentTo"}
xref: UMLS:C5190628 {source="MEDGEN:1681091", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="Orphanet:370019"} ! spondylometaphyseal dysplasia

[Term]
id: MONDO:0018256
name: acute myeloid leukemia with t(8;16)(p11;p13) translocation
def: "A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed." [Orphanet:370026]
subset: gard_rare {source="GARD:21588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370026"}
subset: orphanet_rare {source="Orphanet:370026"}
subset: rare
synonym: "AML with t(8;16)(p11;p13) translocation" EXACT [Orphanet:370026]
xref: GARD:21588 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:370026/ntbt", source="Orphanet:370026"}
xref: MEDGEN:1376688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370026 {source="MONDO:equivalentTo"}
xref: SCTID:725390002 {source="MONDO:equivalentTo"}
xref: UMLS:C4511003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376688"}
is_a: MONDO:0018874 {source="Orphanet:370026"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018257
name: familial syringomyelia
def: "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:21589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:370034"}
subset: rare
synonym: "hereditary syringomyelia" EXACT [MONDO:patterns/hereditary]
xref: GARD:21589 {source="MONDO:GARD"}
xref: ICD10CM:Q06.4 {source="Orphanet:370034", source="Orphanet:370034/attributed", source="Orphanet:370034/ntbt"}
xref: MEDGEN:1842994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370034 {source="MONDO:equivalentTo"}
xref: UMLS:C5680970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842994"}
is_a: MONDO:0020508 {source="Orphanet:370034"} ! primary syringomyelia
intersection_of: MONDO:0017987 ! syringomyelia
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0018258
name: Angora hair nevus
subset: gard_rare {source="GARD:21590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370039"}
subset: orphanet_rare {source="Orphanet:370039"}
subset: rare
synonym: "Schauder syndrome" EXACT [Orphanet:370039]
xref: GARD:21590 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:370039/ntbt", source="Orphanet:370039"}
xref: MEDGEN:1667925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370039 {source="MONDO:equivalentTo"}
xref: UMLS:C4751601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1667925"}
is_a: MONDO:0005073 {source="Orphanet:370039"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare

[Term]
id: MONDO:0018259
name: didymosis aplasticosebacea
subset: gard_rare {source="GARD:21591", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370046"}
subset: orphanet_rare {source="Orphanet:370046"}
subset: rare
synonym: "aplasia cutis congenita-nevus sebaceus syndrome" EXACT [Orphanet:370046]
xref: GARD:21591 {source="MONDO:GARD"}
xref: ICD10CM:Q84.8 {source="Orphanet:370046", source="Orphanet:370046/ntbt"}
xref: MEDGEN:1650408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370046 {source="MONDO:equivalentTo"}
xref: UMLS:C4751600 {source="MEDGEN:1650408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="Orphanet:370046"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare

[Term]
id: MONDO:0018260
name: scalp syndrome
subset: gard_rare {source="GARD:21592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370052"}
subset: orphanet_rare {source="Orphanet:370052"}
subset: rare
synonym: "sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" EXACT [Orphanet:370052]
synonym: "sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" EXACT [Orphanet:370052]
xref: GARD:21592 {source="MONDO:GARD"}
xref: ICD10CM:Q84.8 {source="Orphanet:370052", source="Orphanet:370052/ntbt"}
xref: MEDGEN:1665599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370052 {source="MONDO:equivalentTo"}
xref: UMLS:C4751599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1665599"}
is_a: MONDO:0005073 {source="Orphanet:370052"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare

[Term]
id: MONDO:0018261
name: Nevada syndrome
def: "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." [Orphanet:370059]
subset: gard_rare {source="GARD:21593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370059"}
subset: orphanet_rare {source="Orphanet:370059"}
subset: rare
synonym: "Nevus epidermicus verrucosus with angiodysplasia and aneurysms" EXACT [Orphanet:370059]
xref: GARD:21593 {source="MONDO:GARD"}
xref: ICD10CM:Q84.8 {source="Orphanet:370059/ntbt", source="Orphanet:370059"}
xref: MEDGEN:1667994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370059 {source="MONDO:equivalentTo"}
xref: UMLS:C4751431 {source="MEDGEN:1667994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="Orphanet:370059"} ! melanocytic nevus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare

[Term]
id: MONDO:0018262
name: obsolete fetal anticonvulsant syndrome
subset: ordo_group_of_disorders {source="Orphanet:370068"}
subset: otar {source="MONDO:OTAR"}
synonym: "FACS" EXACT ABBREVIATION [Orphanet:370068]
synonym: "fetal AEDS" EXACT [Orphanet:370068]
synonym: "fetal antiepileptic drug syndrome" EXACT [Orphanet:370068]
synonym: "foetal AEDS" EXACT OMO:0003005 []
synonym: "foetal antiepileptic drug syndrome" EXACT OMO:0003005 []
xref: GARD:21594 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q86.8 {source="Orphanet:370068", source="Orphanet:370068/ntbt"}
xref: Orphanet:370068 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018263
name: fetal carbamazepine syndrome
def: "A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies." [Orphanet:370076]
subset: gard_rare {source="GARD:21595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370076"}
subset: orphanet_rare {source="Orphanet:370076"}
subset: rare
xref: GARD:21595 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:370076/ntbt", source="Orphanet:370076"}
xref: ICD9:760.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:609479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370076 {source="MONDO:equivalentTo"}
xref: SCTID:254249002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609479"}
is_a: MONDO:0016677 {source="https://orcid.org/0000-0002-4142-7153"} ! toxic or drug-related embryofetopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0018264
name: oculocutaneous albinism type 6
def: "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity." [Orphanet:370097]
subset: gard_rare {source="GARD:17599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370097"}
subset: orphanet_rare {source="Orphanet:370097"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism, oculocutaneous, type VI" RELATED [OMIM:113750]
synonym: "OCA6" EXACT ABBREVIATION [OMIM:113750, Orphanet:370097]
synonym: "skin/hair/eye pigmentation 4, fair/dark skin" RELATED [OMIM:113750, OMIM:genemap2]
xref: DOID:0080614 {source="MONDO:equivalentTo"}
xref: GARD:17599 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:370097/attributed", source="Orphanet:370097/ntbt", source="Orphanet:370097"}
xref: MEDGEN:811705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:113750 {source="Orphanet:370097/ntbt", source="Orphanet:370097", source="MONDO:equivalentTo"}
xref: Orphanet:370097 {source="MONDO:equivalentTo", source="OMIM:113750"}
xref: SCTID:722058005 {source="MONDO:equivalentTo"}
xref: UMLS:C3805375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811705"}
is_a: MONDO:0018910 {source="OMIM:113750", source="Orphanet:370097"} ! oculocutaneous albinism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0018265
name: obsolete rare disorder with dystonia and other neurologic or systemic manifestation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:370106"}
xref: GARD:21596 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:370106 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018266
name: ataxia - telangiectasia variant
def: "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." [Orphanet:370109]
subset: gard_rare {source="GARD:21597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370109"}
subset: orphanet_rare {source="Orphanet:370109"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "v-AT" EXACT [Orphanet:370109]
xref: GARD:21597 {source="MONDO:GARD"}
xref: ICD10CM:G11.3 {source="Orphanet:370109", source="Orphanet:370109/attributed", source="Orphanet:370109/ntbt"}
xref: MEDGEN:406286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370109 {source="MONDO:equivalentTo"}
xref: UMLS:C1876175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:406286"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia
relationship: disease_shares_features_of MONDO:0008840 {source="https://github.com/monarch-initiative/mondo-build/issues/42"} ! ataxia telangiectasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018267
name: combined cervical dystonia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: ICD10CM:G24.3 {source="Orphanet:370114/attributed", source="Orphanet:370114/ntbt", source="Orphanet:370114"}
xref: Orphanet:370114 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0018268
name: Medich giant platelet syndrome
def: "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." [Orphanet:370127]
subset: gard_rare {source="GARD:21598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370127"}
subset: orphanet_rare {source="Orphanet:370127"}
subset: rare
synonym: "Medich macrothrombocytopenia" EXACT [Orphanet:370127]
xref: GARD:21598 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:370127/attributed", source="Orphanet:370127/ntbt", source="Orphanet:370127"}
xref: MEDGEN:931044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370127 {source="MONDO:equivalentTo"}
xref: SCTID:718554005 {source="MONDO:equivalentTo"}
xref: UMLS:C4305375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:931044"}
is_a: MONDO:0020117 {source="Orphanet:370127"} ! alpha granule disease

[Term]
id: MONDO:0018269
name: white platelet syndrome
def: "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." [Orphanet:370131]
comment: Editor note: check relationship to platelet granule deficiency disorder
subset: gard_rare {source="GARD:9282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370131"}
subset: orphanet_rare {source="Orphanet:370131"}
subset: rare
synonym: "platelet granule deficiency disorder" RELATED [GARD:0009282]
xref: GARD:9282 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:370131/attributed", source="Orphanet:370131/ntbt", source="Orphanet:370131"}
xref: MEDGEN:419379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536702 {source="MONDO:equivalentTo"}
xref: Orphanet:370131 {source="MONDO:equivalentTo"}
xref: SCTID:718553004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419379"}
is_a: MONDO:0020117 {source="Orphanet:370131"} ! alpha granule disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome" xsd:anyURI {source="GARD:0009282"}

[Term]
id: MONDO:0018270
name: extraskeletal Ewing sarcoma
def: "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." [NCIT:C7135]
subset: gard_rare {source="GARD:17600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370334"}
subset: orphanet_rare {source="Orphanet:370334"}
subset: rare
synonym: "EOE" EXACT ABBREVIATION [NCIT:C7135, Orphanet:370334]
synonym: "Extra-osseous Ewing's sarcoma" EXACT [NCIT:C7135]
synonym: "extraosseous Ewing sarcoma" EXACT [DOID:4232, NCIT:C7135, Orphanet:370334]
synonym: "extraosseous Ewing tumor" EXACT [Orphanet:370334]
synonym: "extraosseous Ewing tumour" EXACT OMO:0003005 []
synonym: "extraosseous Ewing's sarcoma" EXACT [MONDO:0002925, NCIT:C7135]
synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:4232]
synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 []
synonym: "extraosseous Ewing's tumor" EXACT [NCIT:C7135]
synonym: "extraosseous Ewing's tumour" EXACT OMO:0003005 []
synonym: "extraskeletal Ewing sarcoma" EXACT [NCIT:C7135]
synonym: "extraskeletal Ewing tumor" EXACT [Orphanet:370334]
synonym: "extraskeletal Ewing tumour" EXACT OMO:0003005 []
synonym: "extraskeletal Ewing's sarcoma" EXACT [NCIT:C7135]
xref: DOID:4232 {source="MONDO:equivalentTo"}
xref: GARD:17600 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:370334/ntbt", source="Orphanet:370334"}
xref: MEDGEN:76053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27293 {source="DOID:4232"}
xref: NCIT:C7135 {source="MONDO:equivalentTo"}
xref: Orphanet:370334 {source="MONDO:equivalentTo"}
xref: UMLS:C0279980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76053"}
is_a: MONDO:0012817 {source="DOID:4232", source="NCIT:C7135"} ! Ewing sarcoma
is_a: MONDO:0018078 {source="NCIT:C7135", source="Orphanet:370334"} ! soft tissue sarcoma
is_a: MONDO:0021039 {source="NCIT:C7135"} ! extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor

[Term]
id: MONDO:0018271
name: peripheral primitive neuroectodermal tumor
def: "A small round cell tumor with neural differentiation arising from the soft tissues or bone." [NCIT:C9341]
comment: Other ontologies classify peripheral neuroepithelioma as a separate class but NCIT treats these as synonyms and we aim to follow NCIT here. (See HP:0006717, SNOMED:254764001, the "included" disease concept on OMIM:612219, and UMLS:C3489398).
subset: gard_rare {source="GARD:17601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370348"}
subset: orphanet_rare {source="Orphanet:370348"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peripheral neuroectodermal neoplasm" EXACT [NCIT:C9341]
synonym: "peripheral neuroectodermal tumor" EXACT [NCIT:C9341]
synonym: "peripheral neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "peripheral neuroepithelioma" EXACT [NCIT:C9341]
synonym: "peripheral PNET" EXACT [NCIT:C9341, Orphanet:370348]
synonym: "peripheral primitive neuroectodermal neoplasm" EXACT [NCIT:C9341]
synonym: "peripheral primitive neuroectodermal tumor" EXACT [NCIT:C9341]
synonym: "PPNET" EXACT ABBREVIATION [Orphanet:370348]
synonym: "pPNET" EXACT [NCIT:C9341]
xref: GARD:17601 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:370348/ntbt", source="Orphanet:370348"}
xref: ICDO:9364/3 {source="NCIT:C9341"}
xref: MEDGEN:151926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200054 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200055 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9341 {source="MONDO:0021039", source="MONDO:equivalentTo"}
xref: Orphanet:370348 {source="MONDO:equivalentTo"}
xref: UMLS:C0684337 {source="MEDGEN:151926", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005462 {source="NCIT:C9341"} ! primitive neuroectodermal tumor
is_a: MONDO:0021038 {source="NCIT:C9341"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
is_a: MONDO:0021089 {source="NCIT:C9341"} ! peripheral nervous system cancer
relationship: excluded_subClassOf MONDO:0021054 {source="Orphanet:370348", source="https://orcid.org/0000-0001-5208-3432"} ! bone sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4039" xsd:anyURI

[Term]
id: MONDO:0018272
name: obsolete small cell carcinoma of the ovary
def: "OBSOLETE. A small cell carcinoma that involves the ovary." [MONDO:patterns/location]
is_obsolete: true
replaced_by: MONDO:0003795

[Term]
id: MONDO:0018273
name: XYLT1-congenital disorder of glycosylation
subset: gard_rare {source="GARD:21599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370930"}
subset: orphanet_rare {source="Orphanet:370930"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation" EXACT [MEDGEN:C4750849]
synonym: "XYLT1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
synonym: "XYLT18-CDG" EXACT ABBREVIATION [Orphanet:356961]
xref: GARD:21599 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:370930/attributed", source="Orphanet:370930/ntbt", source="Orphanet:370930"}
xref: MEDGEN:1659170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370930 {source="MONDO:equivalentTo"}
xref: UMLS:C4750849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1659170"}
is_a: MONDO:0015159 {source="Orphanet:370930"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0015327 ! developmental anomaly of metabolic origin
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0018274
name: GM3 synthase deficiency
def: "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." [https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12059", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370933"}
subset: orphanet_rare {source="Orphanet:370933"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Amish infantile epilepsy syndrome" EXACT [MONDO:0012189, OMIM:609056]
synonym: "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "epilepsy syndrome, infantile-onset symptomatic" EXACT [OMIM:609056]
synonym: "GM3 synthase deficiency" EXACT CLINGEN_LABEL []
synonym: "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" EXACT [GARD:0012059]
synonym: "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" EXACT [Orphanet:171714]
synonym: "lactosylceramide alpha-2,3-sialyltransferase activity disease" EXACT [MONDO:design_pattern]
synonym: "salt & pepper syndrome" EXACT [DOID:0060470, MONDO:0018275]
synonym: "salt and pepper developmental regression syndrome" EXACT [OMIM:609056]
synonym: "salt and pepper mental retardation syndrome" RELATED DEPRECATED [OMIM:609056]
synonym: "salt-and-pepper syndrome" EXACT [DOID:0060470]
synonym: "SPDRS" EXACT ABBREVIATION [OMIM:609056]
synonym: "ST3GAL5-CDG" EXACT [Orphanet:370933]
xref: DOID:0060470 {source="MONDO:equivalentTo"}
xref: GARD:12059 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:171714", source="Orphanet:370938/attributed", source="Orphanet:370938/ntbt", source="Orphanet:171714/attributed", source="Orphanet:171714/ntbt", source="Orphanet:370938", source="Orphanet:370933/attributed", source="Orphanet:370933/ntbt", source="Orphanet:370933"}
xref: MEDGEN:323005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609056 {source="Orphanet:171714", source="Orphanet:370938/ntbt", source="Orphanet:171714/ntbt", source="Orphanet:370938", source="MONDO:equivalentTo"}
xref: Orphanet:171714 {source="MONDO:equivalentObsolete", source="OMIM:609056"}
xref: Orphanet:370933 {source="MONDO:equivalentTo"}
xref: Orphanet:370938 {source="MONDO:equivalentObsolete", source="DOID:0060470"}
xref: SCTID:722762005 {source="MONDO:equivalentTo"}
xref: UMLS:C1836824 {source="MONDO:equivalentTo", source="MEDGEN:323005", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0006025 {source="DOID:0060470", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0017748 {source="Orphanet:370933"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0047291 ! lactosylceramide alpha-2,3-sialyltransferase activity
relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0019288 {source="Orphanet:370938", source="https://orcid.org/0000-0001-5208-3432"} ! skin pigmentation disorder
relationship: has_characteristic HP:0000007 {source="Orphanet:370938"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10872 {source="MONDO:mim2gene_medgen"} ! ST3GAL5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0018275
name: obsolete salt and pepper syndrome
comment: This term was obsoleted from the source ontologies.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018274

[Term]
id: MONDO:0018276
name: muscular dystrophy-dystroglycanopathy
subset: disease_grouping
subset: gard_rare {source="GARD:12584", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:370953"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMD due to dystroglycanopathy" EXACT [DOID:0050588, Orphanet:370953]
synonym: "congenital muscular dystrophy due to dystroglycanopathy" RELATED [Orphanet:370953]
synonym: "muscular dystrophy-dystroglycanopathy" EXACT CLINGEN_LABEL []
xref: DOID:0112374 {source="MONDO:equivalentTo"}
xref: GARD:12584 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="DOID:0050588", source="Orphanet:370953/attributed", source="Orphanet:370953/ntbt", source="Orphanet:370953"}
xref: MEDGEN:1842215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370953 {source="DOID:0050588", source="MONDO:equivalentTo"}
xref: UMLS:C5679911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842215"}
is_a: MONDO:0019950 {source="DOID:0050588", source="Orphanet:370953"} ! congenital muscular dystrophy
relationship: disease_disrupts GO:0006486 ! protein glycosylation

[Term]
id: MONDO:0018277
name: obsolete congenital muscular dystrophy with cerebellar involvement
subset: ordo_disorder {source="Orphanet:370959"}
subset: otar {source="MONDO:OTAR"}
synonym: "CMD with cerebellar involvement" EXACT [Orphanet:370959]
synonym: "CMD-CRB" EXACT [Orphanet:370959]
xref: GARD:17605 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.2 {source="Orphanet:370959", source="Orphanet:370959/attributed", source="Orphanet:370959/ntbt"}
xref: Orphanet:370959 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018278
name: congenital muscular dystrophy with intellectual disability
subset: gard_rare {source="GARD:17606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370968"}
subset: orphanet_rare {source="Orphanet:370968"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMD with intellectual disability" EXACT [Orphanet:370968]
synonym: "CMD-MR" EXACT [Orphanet:370968]
xref: GARD:17606 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:370968", source="Orphanet:370968/attributed", source="Orphanet:370968/ntbt"}
xref: MEDGEN:1683413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370968 {source="MONDO:equivalentTo"}
xref: UMLS:C5190846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683413"}
is_a: MONDO:0015286 ! congenital disorder of glycosylation
is_a: MONDO:0018276 {source="Orphanet:370968"} ! muscular dystrophy-dystroglycanopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0018279
name: obsolete congenital muscular dystrophy without intellectual disability
subset: ordo_disorder {source="Orphanet:370980"}
subset: otar {source="MONDO:OTAR"}
synonym: "CMD without intellectual disability" EXACT [Orphanet:370980]
synonym: "CMD-no MR" EXACT [Orphanet:370980]
synonym: "congenital muscular dystrophy-dystroglycanopathy without intellectual disability" EXACT [Orphanet:370980]
xref: GARD:17607 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.2 {source="Orphanet:370980", source="Orphanet:370980/attributed", source="Orphanet:370980/ntbt"}
xref: Orphanet:370980 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018280
name: muscle-eye-brain disease with bilateral multicystic leucodystrophy
def: "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." [Orphanet:370997]
subset: gard_rare {source="GARD:17608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370997"}
subset: orphanet_rare {source="Orphanet:370997"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEB disease with bilateral multicystic leucodystrophy" EXACT [Orphanet:370997]
xref: GARD:17608 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:370997/attributed", source="Orphanet:370997/ntbt", source="Orphanet:370997"}
xref: MEDGEN:1675257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:370997 {source="MONDO:equivalentTo"}
xref: UMLS:C5191414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675257"}
is_a: MONDO:0018276 ! muscular dystrophy-dystroglycanopathy
is_a: MONDO:0018869 {source="Orphanet:370997"} ! cobblestone lissencephaly
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0018281
name: congenital muscular dystrophy with hyperlaxity
def: "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." [Orphanet:371007]
subset: gard_rare {source="GARD:21600", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:371007"}
subset: orphanet_rare {source="Orphanet:371007"}
subset: rare
synonym: "CMDH" EXACT ABBREVIATION [Orphanet:371007]
xref: GARD:21600 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:371007/attributed", source="Orphanet:371007/ntbt", source="Orphanet:371007"}
xref: MEDGEN:1633415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:371007 {source="MONDO:equivalentTo"}
xref: SCTID:763314009 {source="MONDO:equivalentTo"}
xref: UMLS:C4706389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633415"}
is_a: MONDO:0019950 {source="Orphanet:371007"} ! congenital muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0018282
name: qualitative or quantitative defects of alpha-dystroglycan
subset: disease_grouping
subset: gard_rare {source="GARD:21601", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:371024"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-dystroglycanopathy" EXACT [Orphanet:371024]
synonym: "dystroglycanopathy" EXACT [Orphanet:371024]
xref: GARD:21601 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:371024", source="Orphanet:371024/attributed", source="Orphanet:371024/ntbt"}
xref: MEDGEN:423526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:371024 {source="MONDO:equivalentTo"}
xref: UMLS:C2936406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423526"}
is_a: MONDO:0016139 {source="Orphanet:371024"} ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0018283
name: obsolete primary qualitative or quantitative defects of alpha-dystroglycan
subset: ordo_group_of_disorders {source="Orphanet:371040"}
subset: otar {source="MONDO:OTAR"}
synonym: "primary alpha-dystroglycanopathy" EXACT [Orphanet:371040]
synonym: "primary dystroglycanopathy" EXACT [Orphanet:371040]
xref: GARD:21602 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.2 {source="Orphanet:371040", source="Orphanet:371040/attributed", source="Orphanet:371040/ntbt"}
xref: Orphanet:371040 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018284
name: obsolete congenital disorder of glycosylation with neurological involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation'
subset: ordo_group_of_disorders {source="Orphanet:371047"}
synonym: "CDG with neurological involvement" EXACT [Orphanet:371047]
xref: GARD:21603 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371047", source="Orphanet:371047/attributed", source="Orphanet:371047/ntbt"}
xref: Orphanet:371047 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0015286

[Term]
id: MONDO:0018285
name: obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature
subset: disease_grouping
synonym: "X-linked CDG with intellectual disability as a major feature" EXACT [Orphanet:371054]
xref: ICD10CM:E77.8 {source="Orphanet:371054/attributed", source="Orphanet:371054/ntbt", source="Orphanet:371054"}
xref: Orphanet:371054 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018286
name: obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
subset: disease_grouping
synonym: "non-X-linked CDG with intellectual disability as a major feature" EXACT [Orphanet:371064]
xref: ICD10CM:E77.8 {source="Orphanet:371064", source="Orphanet:371064/attributed", source="Orphanet:371064/ntbt"}
xref: Orphanet:371064 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018287
name: obsolete congenital disorder of glycosylation with epilepsy as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:371071"}
synonym: "CDG with epilepsy as a major feature" EXACT [Orphanet:371071]
xref: GARD:21604 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371071/attributed", source="Orphanet:371071/ntbt", source="Orphanet:371071"}
xref: Orphanet:371071 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018288
name: obsolete congenital disorder of glycosylation with hepatic involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation'
subset: ordo_group_of_disorders {source="Orphanet:371157"}
synonym: "CDG with hepatic involvement" EXACT [Orphanet:371157]
xref: GARD:21605 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371157", source="Orphanet:371157/attributed", source="Orphanet:371157/ntbt"}
xref: Orphanet:371157 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0015286

[Term]
id: MONDO:0018289
name: obsolete congenital disorder of glycosylation with dilated cardiomyopathy
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation'
subset: ordo_group_of_disorders {source="Orphanet:371176"}
synonym: "CDG with dilated cardiomyopathy" EXACT [Orphanet:371176]
xref: GARD:21606 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371176/attributed", source="Orphanet:371176/ntbt", source="Orphanet:371176"}
xref: Orphanet:371176 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0015286

[Term]
id: MONDO:0018290
name: obsolete congenital disorder of glycosylation with cardiac malformation as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:371183"}
synonym: "CDG with cardiac malformation as a major feature" EXACT [Orphanet:371183]
xref: GARD:21607 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371183", source="Orphanet:371183/attributed", source="Orphanet:371183/ntbt"}
xref: Orphanet:371183 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018291
name: obsolete congenital disorder of glycosylation with intestinal involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation'
subset: ordo_group_of_disorders {source="Orphanet:371188"}
synonym: "CDG with intestinal involvement" EXACT [Orphanet:371188]
xref: GARD:21608 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371188", source="Orphanet:371188/attributed", source="Orphanet:371188/ntbt"}
xref: Orphanet:371188 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0015286

[Term]
id: MONDO:0018292
name: obsolete congenital disorder of glycosylation-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:371195"}
synonym: "CDG-related bone disorder" EXACT [Orphanet:371195]
xref: GARD:21609 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371195/attributed", source="Orphanet:371195/ntbt", source="Orphanet:371195"}
xref: Orphanet:371195 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018293
name: obsolete congenital disorder of glycosylation with skin involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation'
subset: ordo_group_of_disorders {source="Orphanet:371200"}
synonym: "CDG with skin involvement" EXACT [Orphanet:371200]
xref: GARD:21610 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371200", source="Orphanet:371200/attributed", source="Orphanet:371200/ntbt"}
xref: Orphanet:371200 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0015286

[Term]
id: MONDO:0018294
name: obsolete congenital disorder of glycosylation with nephropathy as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:371207"}
synonym: "CDG with nephropathy as a major feature" EXACT [Orphanet:371207]
xref: GARD:21611 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371207/attributed", source="Orphanet:371207/ntbt", source="Orphanet:371207"}
xref: Orphanet:371207 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018295
name: obsolete congenital disorder of glycosylation with deafness as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:371212"}
synonym: "CDG with deafness as a major feature" EXACT [Orphanet:371212]
xref: GARD:21612 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371212", source="Orphanet:371212/attributed", source="Orphanet:371212/ntbt"}
xref: Orphanet:371212 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018296
name: obsolete congenital disorder of glycosylation with developmental anomaly
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation'
subset: ordo_group_of_disorders {source="Orphanet:371235"}
synonym: "CDG with developmental anomaly" EXACT [Orphanet:371235]
xref: GARD:12782 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E77.8 {source="Orphanet:371235", source="Orphanet:371235/attributed", source="Orphanet:371235/ntbt"}
xref: Orphanet:371235 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly" xsd:anyURI {source="GARD:0012782"}
is_obsolete: true
consider: MONDO:0015286

[Term]
id: MONDO:0018297
name: obsolete hypotonia-speech impairment-severe cognitive delay syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3417" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014176

[Term]
id: MONDO:0018298
name: multicentric osteolysis-nodulosis-arthropathy spectrum
def: "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." [Orphanet:371428]
subset: gard_rare {source="GARD:17610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:371428"}
subset: orphanet_rare {source="Orphanet:371428"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MONA spectrum" EXACT [Orphanet:371428]
xref: GARD:17610 {source="MONDO:GARD"}
xref: ICD10CM:Q85.9 {source="Orphanet:371428/attributed", source="Orphanet:371428/ntbt", source="Orphanet:371428"}
xref: MEDGEN:342428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:371428 {source="MONDO:equivalentTo"}
xref: SCTID:716868003 {source="MONDO:equivalentTo"}
xref: UMLS:C1850155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342428"}
is_a: MONDO:0019707 {source="Orphanet:371428"} ! primary osteolysis

[Term]
id: MONDO:0018299
name: obsolete sphingolipidosis with epilepsy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:371442"}
xref: GARD:21615 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:371442 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0018300
name: obsolete genetic hyperaldosteronism
is_obsolete: true
replaced_by: MONDO:0016525

[Term]
id: MONDO:0018301
name: interstitial cystitis
def: "A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain." [Orphanet:37202]
subset: gard_rare {source="GARD:18825", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:37202"}
subset: orphanet_rare {source="Orphanet:37202"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bladder pain syndrome" EXACT [Orphanet:37202]
synonym: "chronic interstitial cystitis" EXACT [MONDO:0006703]
synonym: "IC/BPS" EXACT [Orphanet:37202]
synonym: "IC/PBS" EXACT [Orphanet:37202]
synonym: "interstitial cystitis, chronic" EXACT [MONDO:patterns/chronic]
synonym: "interstitial cystitis/bladder pain syndrome" EXACT [Orphanet:37202]
synonym: "interstitial cystitis/painful bladder syndrome" EXACT [Orphanet:37202]
synonym: "painful bladder syndrome" EXACT [Orphanet:37202]
synonym: "ulcerative cystitis" EXACT [DOID:13949]
xref: DOID:13949 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:1678 {source="MONDO:equivalentTo", source="EFO:1000869"}
xref: EFO:0008507 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18825 {source="MONDO:GARD"}
xref: ICD10CM:N30.1 {source="Orphanet:37202/e", source="DOID:1678", source="Orphanet:37202"}
xref: icd11.foundation:1650709285 {source="MONDO:equivalentTo", source="Orphanet:37202"}
xref: ICD9:595.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1678", source="EFO:1000869"}
xref: MedDRA:10008927 {source="EFO:1000869"}
xref: MedDRA:10011796 {source="Orphanet:37202/e", source="Orphanet:37202"}
xref: MEDGEN:129176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018856 {source="Orphanet:37202/e", source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="Orphanet:37202", source="EFO:1000869"}
xref: NANDO:1200743 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27189 {source="DOID:13949", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:37202 {source="MONDO:equivalentTo"}
xref: SCTID:111409009 {source="DOID:13949", source="MONDO:equivalentTo"}
xref: SCTID:197834003 {source="DOID:13949", source="MONDO:equivalentTo", source="DOID:1678", source="MONDO:preferredExternal", source="EFO:1000869"}
xref: SCTID:197838000 {source="DOID:1678"}
xref: SCTID:44497007 {source="DOID:1678"}
xref: UMLS:C0282488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:129176"}
is_a: MONDO:0003900 {source="DOID:1678"} ! connective tissue disorder
is_a: MONDO:0006030 {source="DOID:1678", source="EFO:1000869", source="NCIT:C27189"} ! chronic cystitis
is_a: MONDO:0006032 {source="DOID:13949", source="DOID:1678/inferred", source="EFO:1000869/inferred", source="MESH:D018856", source="MONDO:Redundant", source="NCIT:C27189/inferred"} ! cystitis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare

[Term]
id: MONDO:0018302
name: acquired kinky hair syndrome
def: "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." [Orphanet:37559]
subset: gard_rare {source="GARD:18826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:37559"}
subset: orphanet_rare {source="Orphanet:37559"}
subset: rare
xref: GARD:18826 {source="MONDO:GARD"}
xref: ICD10CM:L67.8 {source="Orphanet:37559", source="Orphanet:37559/ntbt"}
xref: MEDGEN:537918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:37559 {source="MONDO:equivalentTo"}
xref: UMLS:C0263486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:537918"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder

[Term]
id: MONDO:0018303
name: obsolete generalized isolated dystonia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000476

[Term]
id: MONDO:0018304
name: Schnitzler syndrome
def: "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." [Orphanet:37748]
subset: gard_rare {source="GARD:12390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1696"}
subset: ordo_disorder {source="Orphanet:37748"}
subset: ordo_malformation_syndrome {source="Orphanet:37748"}
subset: orphanet_rare {source="Orphanet:37748"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic urticaria with gammapathy" RELATED [GARD:0012390]
synonym: "chronic urticaria with gammopathy" EXACT [Orphanet:37748]
synonym: "chronic urticaria with macroglobulinemia" EXACT [Orphanet:37748]
xref: DOID:4371 {source="EFO:1001165", source="MONDO:equivalentTo"}
xref: EFO:1001165 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12390 {source="MONDO:GARD"}
xref: ICD10CM:L50.8 {source="Orphanet:37748", source="Orphanet:37748/ntbt"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10062908 {source="Orphanet:37748", source="Orphanet:37748/e"}
xref: MEDGEN:141892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019873 {source="EFO:1001165", source="Orphanet:37748", source="MONDO:equivalentTo", source="Orphanet:37748/e", source="DOID:4371"}
xref: NORD:1696 {source="MONDO:NORD"}
xref: Orphanet:37748 {source="MONDO:equivalentTo"}
xref: SCTID:402415001 {source="EFO:1001165", source="MONDO:equivalentTo", source="DOID:4371"}
xref: UMLS:C0524988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141892"}
is_a: MONDO:0019751 {source="GARD:0012390"} ! autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:4371", source="https://orcid.org/0000-0001-5208-3432"} ! type IV hypersensitivity disease
relationship: excluded_subClassOf MONDO:0005492 {source="Orphanet:37748", source="https://orcid.org/0000-0001-5208-3432"} ! urticaria
relationship: excluded_subClassOf MONDO:0015158 {source="Orphanet:37748", source="https://orcid.org/0000-0001-5208-3432"} ! unexplained periodic fever syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019298"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome" xsd:anyURI {source="GARD:0012390"}

[Term]
id: MONDO:0018305
name: chronic granulomatous disease
def: "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." [Orphanet:379]
subset: gard_rare {source="GARD:6100", source="MONDO:GARD"}
subset: nord_rare {source="NORD:968", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:379"}
subset: orphanet_rare {source="Orphanet:379"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bridges-Good syndrome" EXACT [DOID:3265]
synonym: "CGD" EXACT ABBREVIATION [DOID:3265, NCIT:C26788, Orphanet:379]
synonym: "chronic septic granulomatosis" EXACT [Orphanet:379]
synonym: "congenital dysphagocytosis" EXACT [DOID:3265]
synonym: "granulomatous disease, chronic" RELATED [GARD:0006100]
synonym: "Quie syndrome" EXACT [DOID:3265]
xref: DOID:3265 {source="MONDO:equivalentTo"}
xref: GARD:6100 {source="MONDO:GARD"}
xref: ICD10CM:D71 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/ntbt", source="Orphanet:379/inclusion"}
xref: MedDRA:10008906 {source="Orphanet:379", source="Orphanet:379/e"}
xref: MEDGEN:5377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006105 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="Orphanet:379/e"}
xref: NANDO:1200357 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200757 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26788 {source="DOID:3265", source="MONDO:equivalentTo"}
xref: NORD:968 {source="MONDO:NORD"}
xref: OMIMPS:306400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:379 {source="DOID:3265", source="MONDO:equivalentTo"}
xref: SCTID:11210002 {source="DOID:3265"}
xref: SCTID:191352003 {source="DOID:3265"}
xref: SCTID:191354002 {source="DOID:3265"}
xref: SCTID:387759001 {source="DOID:3265", source="MONDO:equivalentTo"}
xref: UMLS:C0018203 {source="MEDGEN:5377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="Orphanet:379", source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
is_a: MONDO:0005910 {source="DOID:3265", source="MESH:D006105"} ! phagocyte bactericidal dysfunction
is_a: MONDO:0021166 ! inflammatory disease
is_a: MONDO:0024626 ! defective phagocytic cell engulfment
relationship: disease_disrupts GO:0002376 ! immune system process
relationship: disease_disrupts GO:0006909 {source="Wikipedia:Chronic_granulomatous_disease"} ! phagocytosis
relationship: disease_has_basis_in_disruption_of GO:0016175 ! superoxide-generating NAD(P)H oxidase activity
relationship: disease_has_basis_in_dysfunction_of GO:0043020 {source="PMID:8796870"} ! NADPH oxidase complex
relationship: excluded_subClassOf MONDO:0005265 {source="Orphanet:379", source="https://orcid.org/0000-0001-5208-3432"} ! inflammatory bowel disease
relationship: excluded_subClassOf MONDO:0015978 {source="Orphanet:379", source="https://orcid.org/0000-0001-5208-3432"} ! functional neutrophil defect
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015187"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:306400"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease" xsd:anyURI {source="GARD:0006100"}

[Term]
id: MONDO:0018306
name: Griscelli syndrome
def: "Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." [Orphanet:381]
subset: gard_rare {source="GARD:10913", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:381"}
subset: orphanet_rare {source="Orphanet:381"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ChC)diak-Higashi-like syndrome" EXACT [Orphanet:381]
synonym: "Chédiak-Higashi-like syndrome" EXACT [DOID:0060831]
synonym: "Ch��diak-Higashi-like syndrome" EXACT [DOID:0060831]
synonym: "Griscelli disease" RELATED [GARD:0010913]
synonym: "Griscelli-PruniC)ras syndrome" EXACT [Orphanet:381]
synonym: "Griscelli-Pruniéras syndrome" EXACT [DOID:0060831]
synonym: "Griscelli-Pruni��ras syndrome" EXACT [DOID:0060831]
synonym: "partial albinism-immunodeficiency syndrome" EXACT [DOID:0060831, Orphanet:381]
xref: DOID:0060831 {source="MONDO:equivalentTo"}
xref: GARD:10913 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060831", source="Orphanet:381", source="Orphanet:381/attributed", source="Orphanet:381/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:585090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200640 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:214450 {source="DOID:0060831", source="MONDO:equivalentTo"}
xref: Orphanet:381 {source="DOID:0060831", source="MONDO:equivalentTo"}
xref: SCTID:37548006 {source="MONDO:equivalentTo"}
xref: UMLS:C0398794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:585090"}
is_a: MONDO:0017305 {source="Orphanet:381"} ! syndromic oculocutaneous albinism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:214450"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome" xsd:anyURI {source="GARD:0010913"}

[Term]
id: MONDO:0018307
name: neurodegeneration with brain iron accumulation
def: "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." [Orphanet:385]
comment: Editor note: check relationship to PKAN
subset: disease_grouping
subset: gard_rare {source="GARD:11899", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:385"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NBIA" EXACT ABBREVIATION [DOID:0110734, Orphanet:385]
synonym: "neurodegeneration with brain iron accumulation" EXACT CLINGEN_LABEL []
xref: DOID:0110734 {source="MONDO:equivalentTo"}
xref: GARD:11899 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="DOID:0110734", source="Orphanet:385/attributed", source="Orphanet:385/ntbt", source="Orphanet:385"}
xref: MEDGEN:444156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538421 {source="DOID:0110734", source="Orphanet:385/e", source="MONDO:equivalentTo", source="Orphanet:385"}
xref: NANDO:2100241 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:234200 {source="DOID:0110734", source="MONDO:equivalentTo"}
xref: Orphanet:385 {source="DOID:0110734", source="MONDO:equivalentTo"}
xref: UMLS:C2931845 {source="MEDGEN:444156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002279 {source="MESH:C538421"} ! iron metabolism disease
is_a: MONDO:0002283 {source="MESH:C538421"} ! neuroaxonal dystrophy
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:385", source="Orphanet:385/inferred"} ! hereditary dementia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:385", source="Orphanet:385/inferred"} ! inherited neurodegenerative disorder
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:385"} ! dementia
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:234200"} ! inherited

[Term]
id: MONDO:0018308
name: liver mesenchymal hamartoma
def: "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." [NCIT:C5751]
comment: Editor note: in NCIT this is classified as non-neoplastic
subset: gard_rare {source="GARD:2651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:386"}
subset: orphanet_rare {source="Orphanet:386"}
subset: rare
synonym: "biliary hamartoma" EXACT [Orphanet:386]
synonym: "hepatic cystic hamartoma" RELATED [Orphanet:386]
synonym: "hepatic mesenchymal hamartoma" EXACT [NCIT:C5751]
synonym: "liver mesenchymal hamartoma" EXACT [MONDO:patterns/location, NCIT:C5751]
synonym: "liver MH" EXACT [NCIT:C5751]
synonym: "mesenchymal hamartoma of liver" EXACT [NCIT:C5751, Orphanet:386]
synonym: "mesenchymal hamartoma of the liver" EXACT [NCIT:C5751]
synonym: "MHL" EXACT ABBREVIATION [Orphanet:386]
synonym: "VMC" EXACT ABBREVIATION [Orphanet:386]
synonym: "Von Meyenburg complexes disease" EXACT [Orphanet:386]
xref: GARD:2651 {source="MONDO:GARD"}
xref: ICD10CM:D13.4 {source="Orphanet:386/btnt", source="Orphanet:386"}
xref: MEDGEN:232278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5751 {source="MONDO:equivalentTo"}
xref: Orphanet:386 {source="MONDO:equivalentTo"}
xref: SCTID:715397000 {source="MONDO:equivalentTo"}
xref: UMLS:C1333971 {source="MEDGEN:232278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024478 {source="MONDO:Redundant", source="NCIT:C5751"} ! mesenchymal hamartoma
intersection_of: MONDO:0024478 ! mesenchymal hamartoma
intersection_of: disease_has_location UBERON:0002107 ! liver
relationship: excluded_subClassOf MONDO:0017632 {source="Orphanet:386", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare tumor of liver and intrahepatic biliary tract
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma" xsd:anyURI {source="GARD:0002651"}

[Term]
id: MONDO:0018309
name: Hirschsprung disease
def: "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." [Orphanet:388]
subset: gard_rare {source="GARD:6660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1244"}
subset: ordo_disorder {source="Orphanet:388"}
subset: orphanet_rare {source="Orphanet:388"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aganglionic megacolon" EXACT [DOID:10487, NCIT:C34700, Orphanet:388]
synonym: "congenital intestinal aganglionosis" EXACT [Orphanet:388]
synonym: "congenital megacolon" EXACT [DOID:10487]
synonym: "Hirschsprung disease" EXACT [DOID:10487]
synonym: "Hirschsprung disease susceptibility" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Hirschsprung's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "HSCR" EXACT ABBREVIATION [Orphanet:388]
synonym: "macrocolon" RELATED [DOID:10487]
synonym: "pelvirectal achalasia" EXACT [DOID:10487]
synonym: "total intestinal aganglionosis" NARROW EXCLUDE [DOID:10487]
xref: DOID:10487 {source="MONDO:equivalentTo"}
xref: GARD:6660 {source="MONDO:GARD"}
xref: ICD10CM:Q43.1 {source="Orphanet:388/specific", source="Orphanet:388/e", source="DOID:10487", source="Orphanet:388"}
xref: icd11.foundation:1772690306 {source="MONDO:equivalentTo", source="Orphanet:388"}
xref: MedDRA:10010539 {source="Orphanet:388/e", source="Orphanet:388"}
xref: MEDGEN:5559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006627 {source="Orphanet:388/e", source="MONDO:equivalentTo", source="DOID:10487", source="Orphanet:388"}
xref: NANDO:1200903 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200945 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200948 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34700 {source="MONDO:equivalentTo", source="DOID:10487"}
xref: NORD:1244 {source="MONDO:NORD"}
xref: OMIMPS:142623 {source="MONDO:equivalentTo"}
xref: Orphanet:388 {source="MONDO:equivalentTo", source="DOID:10487"}
xref: SCTID:204739008 {source="MONDO:equivalentTo"}
xref: SCTID:6687001 {source="DOID:10487"}
xref: UMLS:C0019569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5559"}
is_a: MONDO:0021189 {source="Orphanet:388"} ! intestinal motility disease
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: disease_arises_from_feature MONDO:0001273 ! megacolon
relationship: excluded_subClassOf MONDO:0001273 {source="DOID:10487", source="MESH:D006627", source="https://orcid.org/0000-0001-5208-3432"} ! megacolon
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:142623"} ! inherited

[Term]
id: MONDO:0018310
name: Langerhans cell histiocytosis
def: "Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues." [Orphanet:389]
comment: We follow NCIT in classifying this as a neoplasm but this may be revisited
subset: disease_grouping
subset: gard_rare {source="GARD:6858", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1348"}
subset: ordo_disorder {source="Orphanet:389"}
subset: orphanet_rare {source="Orphanet:389"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "histiocytosis X" EXACT [DOID:2571, NCIT:C3107, Orphanet:389]
synonym: "Langerhan's cell histiocytosis" EXACT [DOID:2571]
synonym: "Langerhans cell granulomatosis" EXACT [DOID:2571, NCIT:C3107, Orphanet:389]
synonym: "Langerhans cell histiocytosis" EXACT [MONDO:0006263, NCIT:C3107, OMIM:604856]
synonym: "Langerhans cell histiocytosis, NOS" EXACT [NCIT:C3107]
synonym: "Langerhans cell histiocytosis, Not otherwise specified" EXACT [NCIT:C3107]
synonym: "Langerhans-cell histiocytosis" RELATED [DOID:2571]
synonym: "LCH" EXACT ABBREVIATION [NCIT:C3107]
synonym: "Lch" RELATED [OMIM:604856]
synonym: "letterer-Siwe disease" RELATED EXCLUDE [DOID:2571]
synonym: "letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving intrapelvic lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving intrathoracic lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of axilla and upper limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of head, face and neck" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of head, face, and neck" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of inguinal region and lower limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving lymph nodes of multiple sites" EXACT [DOID:2571]
synonym: "letterer-Siwe disease involving spleen" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of intra-abdominal lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of intrapelvic lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of intrathoracic lymph nodes" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of axilla and upper limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of axilla and/or upper limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of head, face and neck" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of head, face and/or neck" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of inguinal region and lower limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of lymph nodes of multiple sites" EXACT [DOID:2571]
synonym: "letterer-Siwe disease of spleen" EXACT [DOID:2571]
xref: DOID:2571 {source="MONDO:equivalentTo"}
xref: EFO:1000318 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6858 {source="MONDO:GARD"}
xref: ICD10CM:C96.0 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"}
xref: ICD10CM:C96.5 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"}
xref: ICD10CM:C96.6 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"}
xref: icd11.foundation:216625985 {source="Orphanet:389", source="MONDO:equivalentTo"}
xref: ICD9:202.5 {source="DOID:2571"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9751/1 {source="NCIT:C3107"}
xref: ICDO:9751/3 {source="NCIT:C3107"}
xref: ICDO:9752/1 {source="NCIT:C3107"}
xref: ICDO:9753/1 {source="NCIT:C3107"}
xref: ICDO:9754/3 {source="NCIT:C3107"}
xref: MedDRA:10069698 {source="Orphanet:389", source="Orphanet:389/e"}
xref: MEDGEN:5568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538636 {source="DOID:2571"}
xref: MESH:D006646 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/e"}
xref: NANDO:2200031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3107 {source="DOID:2571", source="MONDO:equivalentTo", source="EFO:1000318"}
xref: NCIT:C3160 {source="DOID:2571"}
xref: NCIT:C6920 {source="DOID:2571"}
xref: NORD:1348 {source="MONDO:NORD"}
xref: OMIM:604856 {source="DOID:2571", source="Orphanet:389", source="MONDO:equivalentTo", source="Orphanet:389/e"}
xref: ONCOTREE:LCH {source="MONDO:equivalentTo"}
xref: Orphanet:389 {source="MONDO:equivalentTo", source="OMIM:604856"}
xref: SCTID:110450007 {source="DOID:2571"}
xref: SCTID:118614007 {source="DOID:2571"}
xref: SCTID:128809007 {source="DOID:2571"}
xref: SCTID:128811003 {source="DOID:2571"}
xref: SCTID:128812005 {source="DOID:2571"}
xref: SCTID:154583006 {source="DOID:2571"}
xref: SCTID:154773005 {source="DOID:2571"}
xref: SCTID:188654004 {source="DOID:2571"}
xref: SCTID:188655003 {source="DOID:2571"}
xref: SCTID:188659009 {source="DOID:2571"}
xref: SCTID:190955000 {source="DOID:2571"}
xref: SCTID:190956004 {source="DOID:2571"}
xref: SCTID:190960001 {source="DOID:2571"}
xref: SCTID:234439008 {source="DOID:2571"}
xref: SCTID:236957004 {source="DOID:2571"}
xref: SCTID:267510005 {source="DOID:2571"}
xref: SCTID:269628007 {source="DOID:2571"}
xref: SCTID:366059005 {source="DOID:2571"}
xref: SCTID:39795003 {source="DOID:2571"}
xref: SCTID:65399007 {source="DOID:2571", source="MONDO:equivalentTo"}
xref: SCTID:67574008 {source="DOID:2571"}
xref: UMLS:C0019621 {source="MEDGEN:5568", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002637 {source="DOID:2571", source="ONCOTREE:LCH"} ! histiocytosis
is_a: MONDO:0006247 {source="NCIT:C3107", source="NCIT:C3107/inferred", source="Orphanet:389/inferred"} ! histiocytic and dendritic cell neoplasm
is_a: MONDO:0020082 {source="Orphanet:389"} ! dendritic cell tumor
relationship: disease_causes_dysfunction_of CL:0000453 ! Langerhans cell
relationship: disease_has_location CL:0000453 {source="EFO:0000784"} ! Langerhans cell
relationship: excluded_subClassOf MONDO:0002332 {source="DOID:2571", source="https://orcid.org/0000-0001-5208-3432"} ! splenic disorder

[Term]
id: MONDO:0018311
name: acromelanosis
def: "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life." [Orphanet:39]
subset: gard_rare {source="GARD:4500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:39"}
subset: orphanet_rare {source="Orphanet:39"}
subset: rare
synonym: "progressive acromelanosis" RELATED [GARD:0004500]
xref: GARD:4500 {source="MONDO:GARD"}
xref: ICD10CM:L81.4 {source="Orphanet:39", source="Orphanet:39/ntbt"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:39 {source="MONDO:equivalentTo"}
xref: SCTID:239089006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98038"}
is_a: MONDO:0019289 {source="Orphanet:39"} ! hyperpigmentation of the skin
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4500/acromelanosis" xsd:anyURI {source="GARD:0004500"}

[Term]
id: MONDO:0018312
name: histoplasmosis
def: "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated." [NCIT:C77201]
subset: gard_rare {source="GARD:18692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:390"}
subset: orphanet_rare {source="Orphanet:390"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "darling disease" EXACT [Orphanet:390]
synonym: "Histoplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Histoplasma disease or disorder" EXACT []
synonym: "Histoplasma infectious disease" EXACT []
xref: DOID:1731 {source="MONDO:equivalentTo", source="EFO:0007310"}
xref: EFO:0007310 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18692 {source="MONDO:GARD"}
xref: ICD10CM:B39 {source="DOID:1731", source="MONDO:equivalentTo"}
xref: ICD10CM:B39.0 {source="Orphanet:390", source="Orphanet:390/btnt"}
xref: ICD10CM:B39.1 {source="Orphanet:390", source="Orphanet:390/btnt"}
xref: ICD10CM:B39.2 {source="Orphanet:390", source="Orphanet:390/btnt"}
xref: ICD10CM:B39.3 {source="Orphanet:390", source="Orphanet:390/btnt"}
xref: ICD10CM:B39.4 {source="Orphanet:390", source="Orphanet:390/btnt"}
xref: ICD10CM:B39.5 {source="Orphanet:390", source="Orphanet:390/btnt"}
xref: ICD10CM:B39.9 {source="DOID:1731", source="Orphanet:390", source="Orphanet:390/btnt"}
xref: icd11.foundation:1553838370 {source="MONDO:equivalentTo", source="Orphanet:390", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:115 {source="DOID:1731"}
xref: ICD9:115.9 {source="DOID:1731"}
xref: ICD9:115.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:115.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10020141 {source="Orphanet:390", source="Orphanet:390/e"}
xref: MedDRA:10021808 {source="Orphanet:390", source="Orphanet:390/e"}
xref: MEDGEN:42468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538362 {source="MONDO:relatedTo", source="DOID:1731"}
xref: MESH:D006660 {source="DOID:1731", source="MONDO:equivalentTo", source="Orphanet:390", source="Orphanet:390/e", source="EFO:0007310"}
xref: NCIT:C34977 {source="DOID:1731"}
xref: NCIT:C77201 {source="DOID:1731", source="MONDO:equivalentTo"}
xref: Orphanet:390 {source="MONDO:equivalentTo"}
xref: SCTID:12962009 {source="DOID:1731", source="MONDO:equivalentTo"}
xref: SCTID:154408001 {source="DOID:1731"}
xref: SCTID:187055002 {source="DOID:1731"}
xref: SCTID:187056001 {source="DOID:1731"}
xref: SCTID:187063001 {source="DOID:1731"}
xref: SCTID:187482000 {source="DOID:1731"}
xref: SCTID:266218008 {source="DOID:1731"}
xref: UMLS:C0019655 {source="MEDGEN:42468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000308 {source="DOID:1731"} ! primary systemic mycosis
is_a: MONDO:0002041 {source="DOID:1731/inferred", source="ICD10CM:B39", source="MESH:D006660", source="MONDO:Redundant", source="NCIT:C77201", source="Orphanet:390"} ! fungal infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5036 ! Histoplasma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare

[Term]
id: MONDO:0018313
name: obsolete uveal melanoma
is_obsolete: true
replaced_by: MONDO:0006486

[Term]
id: MONDO:0018314
name: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
def: "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." [Orphanet:391316]
subset: gard_rare {source="GARD:21619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391316"}
subset: orphanet_rare {source="Orphanet:391316"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21619 {source="MONDO:GARD"}
xref: ICD10CM:G40.2 {source="Orphanet:391316/attributed", source="Orphanet:391316/ntbt", source="Orphanet:391316"}
xref: MEDGEN:1654958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391316 {source="MONDO:equivalentTo"}
xref: UMLS:C4750853 {source="MEDGEN:1654958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015653 {source="Orphanet:391316"} ! monogenic epilepsy
is_a: MONDO:0020071 {source="Orphanet:391316"} ! infantile epilepsy syndrome
relationship: has_characteristic HP:0003593 {source="Orphanet:391316"} ! Infantile onset

[Term]
id: MONDO:0018315
name: X-linked osteoporosis with fractures
subset: gard_rare {source="GARD:17614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391330"}
subset: orphanet_rare {source="Orphanet:391330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17614 {source="MONDO:GARD"}
xref: MEDGEN:1674557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300910 {source="MONDO:relatedTo", source="Orphanet:391330", source="Orphanet:391330/nd"}
xref: Orphanet:391330 {source="MONDO:equivalentTo"}
xref: UMLS:C5190610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674557"}
is_a: MONDO:0005298 {source="https://orcid.org/0000-0001-5208-3432"} ! osteoporosis
relationship: disease_has_feature HP:0004349 {source="Orphanet:391330"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:391330", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density

[Term]
id: MONDO:0018316
name: fatal post-viral neurodegenerative disorder
subset: gard_rare {source="GARD:21620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391343"}
subset: orphanet_rare {source="Orphanet:391343"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21620 {source="MONDO:GARD"}
xref: ICD10CM:G04.8 {source="Orphanet:391343", source="Orphanet:391343/attributed", source="Orphanet:391343/ntbt"}
xref: MEDGEN:1657472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391343 {source="MONDO:equivalentTo"}
xref: UMLS:C4751597 {source="MEDGEN:1657472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024237 {source="Orphanet:391343"} ! inherited neurodegenerative disorder

[Term]
id: MONDO:0018317
name: growth retardation-mild developmental delay-chronic hepatitis syndrome
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:21621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391366"}
subset: orphanet_rare {source="Orphanet:391366"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21621 {source="MONDO:GARD"}
xref: MEDGEN:1654119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391366 {source="MONDO:equivalentTo"}
xref: UMLS:C4751595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1654119"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018318
name: obsolete disorder of asparagine metabolism
subset: ordo_group_of_disorders {source="Orphanet:391381"}
xref: GARD:21622 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:391381 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018319
name: familial episodic pain syndrome
subset: gard_rare {source="GARD:12684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391384"}
subset: orphanet_rare {source="Orphanet:391384"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FEPS" EXACT ABBREVIATION [Orphanet:391384]
xref: DOID:0111728 {source="MONDO:equivalentTo"}
xref: GARD:12684 {source="MONDO:GARD"}
xref: ICD10CM:M79.6 {source="Orphanet:391384", source="Orphanet:391384/attributed", source="Orphanet:391384/ntbt"}
xref: MEDGEN:1682682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:615040 {source="MONDO:equivalentTo"}
xref: Orphanet:391384 {source="MONDO:equivalentTo"}
xref: UMLS:C5190598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682682"}
is_a: MONDO:0020127 {source="Orphanet:391384"} ! hereditary peripheral neuropathy
is_a: MONDO:0700057 {source="https://orcid.org/0000-0001-5208-3432"} ! neurological pain disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:615040"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome" xsd:anyURI {source="GARD:0012684"}

[Term]
id: MONDO:0018320
name: primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
subset: gard_rare {source="GARD:17620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391408"}
subset: orphanet_rare {source="Orphanet:391408"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17620 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:391408", source="Orphanet:391408/attributed", source="Orphanet:391408/ntbt"}
xref: MEDGEN:1675765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391408 {source="MONDO:equivalentTo"}
xref: UMLS:C5190597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675765"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:391408", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015887-obsoleted", source="MONDO:Redundant", source="Orphanet:391408", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0031481 {source="Orphanet:391408", source="https://orcid.org/0000-0001-5208-3432"} ! microcephaly, epilepsy, and diabetes syndrome 1
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0018321
name: atypical juvenile parkinsonism
def: "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." [Orphanet:391411]
subset: gard_rare {source="GARD:17621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391411"}
subset: orphanet_rare {source="Orphanet:391411"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17621 {source="MONDO:GARD"}
xref: ICD10CM:G20 {source="Orphanet:391411", source="Orphanet:391411/attributed", source="Orphanet:391411/ntbt"}
xref: MEDGEN:1380105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391411 {source="MONDO:equivalentTo"}
xref: SCTID:725146001 {source="MONDO:equivalentTo"}
xref: UMLS:C4510873 {source="MEDGEN:1380105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder

[Term]
id: MONDO:0018322
name: HSD10 disease, infantile type
def: "HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age." [Orphanet:391428]
subset: gard_rare {source="GARD:17622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391428"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2-methyl-3-hydroxybutyric aciduria, classic type" EXACT [Orphanet:391428]
synonym: "2-methyl-3-hydroxybutyric aciduria, infantile type" EXACT [Orphanet:391428]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type" EXACT [Orphanet:391428]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type" EXACT [Orphanet:391428]
synonym: "HSD10 deficiency, classic type" EXACT [Orphanet:391428]
synonym: "HSD10 deficiency, infantile type" EXACT [Orphanet:391428]
synonym: "HSD10 disease, classic type" EXACT [Orphanet:391428]
synonym: "MHBD deficiency, classic type" EXACT [Orphanet:391428]
synonym: "MHBD deficiency, infantile type" EXACT [Orphanet:391428]
xref: GARD:17622 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:391428", source="Orphanet:391428/attributed", source="Orphanet:391428/ntbt"}
xref: MEDGEN:1843150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391428 {source="MONDO:equivalentTo"}
xref: UMLS:C5680025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843150"}
is_a: MONDO:0010327 {source="Orphanet:391428"} ! HSD10 mitochondrial disease

[Term]
id: MONDO:0018323
name: HSD10 disease, neonatal type
def: "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life." [Orphanet:391457]
subset: gard_rare {source="GARD:17623", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391457"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "2-methyl-3-hydroxybutyric aciduria, neonatal type" EXACT [Orphanet:391457]
synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type" EXACT [Orphanet:391457]
synonym: "HSD10 deficiency, neonatal type" EXACT [Orphanet:391457]
synonym: "MHBD deficiency, neonatal type" EXACT [Orphanet:391457]
xref: GARD:17623 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:391457/attributed", source="Orphanet:391457/ntbt", source="Orphanet:391457"}
xref: MEDGEN:1842355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391457 {source="MONDO:equivalentTo"}
xref: UMLS:C5680026 {source="MEDGEN:1842355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010327 {source="Orphanet:391457"} ! HSD10 mitochondrial disease

[Term]
id: MONDO:0018324
name: adult-onset myasthenia gravis
def: "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma." [Orphanet:391490]
subset: gard_rare {source="GARD:21623", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391490"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult-onset acquired myasthenia" EXACT [Orphanet:391490]
synonym: "adult-onset autoimmune myasthenia gravis" EXACT [Orphanet:391490]
xref: EFO:1001490 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21623 {source="MONDO:GARD"}
xref: ICD10CM:G70.0 {source="Orphanet:391490/ntbt", source="Orphanet:391490"}
xref: MEDGEN:1843050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391490 {source="MONDO:equivalentTo"}
xref: UMLS:C5680024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843050"}
is_a: MONDO:0009688 {source="Orphanet:391490"} ! myasthenia gravis
intersection_of: MONDO:0009688 ! myasthenia gravis
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0018325
name: juvenile myasthenia gravis
def: "Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age." [Orphanet:391497]
subset: gard_rare {source="GARD:21624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391497"}
subset: rare
synonym: "childhood myasthenia gravis" EXACT [Orphanet:391497]
synonym: "juvenile acquired myasthenia" EXACT [Orphanet:391497]
synonym: "juvenile autoimmune myasthenia gravis" EXACT [Orphanet:391497]
synonym: "myasthenia gravis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric myasthenia gravis" EXACT OMO:0003005 []
synonym: "pediatric myasthenia gravis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: GARD:21624 {source="MONDO:GARD"}
xref: ICD10CM:G70.0 {source="Orphanet:391497", source="Orphanet:391497/ntbt"}
xref: MEDGEN:1842990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:391497 {source="MONDO:equivalentTo"}
xref: UMLS:C5680023 {source="MEDGEN:1842990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009688 {source="MONDO:Redundant", source="Orphanet:391497"} ! myasthenia gravis
intersection_of: MONDO:0009688 ! myasthenia gravis
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0018326
name: transient neonatal myasthenia gravis
def: "Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies." [Orphanet:391504]
subset: gard_rare {source="GARD:21625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:391504"}
subset: rare
synonym: "neonatal myasthenia gravis" BROAD [Orphanet:391504]
synonym: "NMG" EXACT ABBREVIATION [Orphanet:391504]
synonym: "transient neonatal acquired myasthenia" EXACT [Orphanet:391504]
synonym: "transient neonatal autoimmune myasthenia gravis" EXACT [Orphanet:391504]
xref: GARD:21625 {source="MONDO:GARD"}
xref: ICD10CM:P94.0 {source="Orphanet:391504", source="MONDO:equivalentTo", source="Orphanet:391504/e"}
xref: icd11.foundation:2096990223 {source="Orphanet:391504", source="MONDO:equivalentTo"}
xref: MEDGEN:96918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117308 {source="MONDO:equivalentTo"}
xref: Orphanet:391504 {source="MONDO:equivalentTo"}
xref: UMLS:C0495465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96918"}
is_a: MONDO:0009688 {source="NCIT:C117308", source="Orphanet:391504"} ! myasthenia gravis
is_a: MONDO:0018356 {source="Orphanet:391504"} ! secondary neonatal autoimmune disease
relationship: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0018327
name: glomus tumor
def: "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." [NCIT:C3060]
subset: gard_rare {source="GARD:21626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391651"}
subset: orphanet_rare {source="Orphanet:391651"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glomus neoplasm" EXACT [DOID:2431, NCIT:C3060]
synonym: "glomus tumor" EXACT [DOID:2431, NCIT:C3060]
xref: DOID:2431 {source="MONDO:equivalentTo"}
xref: GARD:21626 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:391651", source="Orphanet:391651/ntbt"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8711/0 {source="NCIT:C3060"}
xref: MEDGEN:4903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005918 {source="DOID:2431", source="MONDO:equivalentTo"}
xref: NCIT:C3060 {source="DOID:2431", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:391651 {source="MONDO:equivalentTo"}
xref: SCTID:10438002 {source="DOID:2431"}
xref: SCTID:189193002 {source="DOID:2431"}
xref: SCTID:393567008 {source="DOID:2431"}
xref: SCTID:403969002 {source="DOID:2431", source="MONDO:equivalentTo"}
xref: UMLS:C0017653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4903"}
is_a: MONDO:0002604 {source="DOID:2431/inferred", source="MONDO:Redundant", source="NCIT:C3060"} ! pericytic neoplasm
is_a: MONDO:0006424 {source="Orphanet:391651"} ! soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0002789 {source="DOID:2431", source="https://orcid.org/0000-0001-5208-3432"} ! hemangiopericytic tumor
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare

[Term]
id: MONDO:0018328
name: homozygous familial hypercholesterolemia
subset: gard_rare {source="GARD:10416", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391665"}
subset: orphanet_rare {source="Orphanet:391665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HoFH" EXACT [Orphanet:391665]
synonym: "homozygous familial hypercholesterolemia" EXACT CLINGEN_LABEL []
xref: GARD:10416 {source="MONDO:GARD"}
xref: ICD10CM:E78.0 {source="Orphanet:391665/attributed", source="Orphanet:391665/ntbt", source="Orphanet:391665"}
xref: MEDGEN:575266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000090542 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:1200394 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201255 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:391665 {source="MONDO:equivalentTo"}
xref: SCTID:238078005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342881 {source="MEDGEN:575266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005439 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypercholesterolemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018799"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0018329
name: obsolete persistent combined dystonia
subset: ordo_group_of_disorders {source="Orphanet:391711"}
xref: GARD:21628 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G24.1 {source="Orphanet:391711/attributed", source="Orphanet:391711/ntbt", source="Orphanet:391711"}
xref: Orphanet:391711 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018330
name: mucinous adenocarcinoma of the appendix
def: "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present." [Orphanet:391723]
subset: gard_rare {source="GARD:21629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:391723"}
subset: orphanet_rare {source="Orphanet:391723"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "appendiceal mucinous adenocarcinoma" EXACT [Orphanet:391723]
synonym: "appendix mucinous adenocarcinoma" EXACT [NCIT:C43558]
synonym: "vermiform appendix mucinous adenocarcinoma" EXACT [MONDO:patterns/location]
xref: GARD:21629 {source="MONDO:GARD"}
xref: ICD10CM:C18.1 {source="Orphanet:391723/ntbt", source="Orphanet:391723"}
xref: icd11.foundation:425095558 {source="MONDO:equivalentTo", source="Orphanet:391723", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:317382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43558 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:MAAP {source="MONDO:equivalentTo"}
xref: Orphanet:391723 {source="MONDO:equivalentTo"}
xref: UMLS:C1706832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:317382"}
is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C43558"} ! mucinous adenocarcinoma
is_a: MONDO:0006087 {source="MONDO:Redundant", source="NCIT:C43558", source="ONCOTREE:MAAP"} ! appendix adenocarcinoma
is_a: MONDO:0018511 {source="MONDO:Redundant", source="Orphanet:391723"} ! epithelial tumor of the appendix
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0018331
name: obsolete rare genetic dystonia
is_obsolete: true
replaced_by: MONDO:0044807

[Term]
id: MONDO:0018332
name: multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
subset: gard_rare {source="GARD:17626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:394529"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glutaric aciduria type 2, severe neonatal type" EXACT [Orphanet:394529]
synonym: "MAD deficiency, severe neonatal type" EXACT [Orphanet:394529]
synonym: "MADD, severe neonatal type" EXACT [Orphanet:394529]
xref: GARD:17626 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:394529", source="Orphanet:394529/attributed", source="Orphanet:394529/ntbt"}
xref: MEDGEN:1842925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:394529 {source="MONDO:equivalentTo"}
xref: UMLS:C5680029 {source="MEDGEN:1842925", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009282 {source="Orphanet:394529"} ! multiple acyl-CoA dehydrogenase deficiency

[Term]
id: MONDO:0018333
name: multiple acyl-CoA dehydrogenase deficiency, mild type
subset: gard_rare {source="GARD:17627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:394532"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glutaric aciduria type 2, mild type" EXACT [Orphanet:394532]
synonym: "MAD deficiency, mild type" EXACT [Orphanet:394532]
synonym: "MADD, mild type" EXACT [Orphanet:394532]
xref: GARD:17627 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:394532", source="Orphanet:394532/attributed", source="Orphanet:394532/ntbt"}
xref: MEDGEN:1843108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:394532 {source="MONDO:equivalentTo"}
xref: UMLS:C5680028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843108"}
is_a: MONDO:0009282 {source="Orphanet:394532"} ! multiple acyl-CoA dehydrogenase deficiency

[Term]
id: MONDO:0018334
name: chronic hiccup
def: "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours." [Orphanet:396]
subset: gard_rare {source="GARD:6657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1242"}
subset: ordo_disorder {source="Orphanet:396"}
subset: orphanet_rare {source="Orphanet:396"}
subset: rare
synonym: "chronic hiccups" RELATED [GARD:0006657]
synonym: "Hiccups, Chronic" EXACT [NORD:1242]
synonym: "Hiccups, intractable" RELATED [GARD:0006657]
synonym: "intractable hiccups" RELATED [GARD:0006657]
synonym: "intractable singultus" RELATED [GARD:0006657]
synonym: "persistent hiccups" RELATED [GARD:0006657]
xref: GARD:6657 {source="MONDO:GARD"}
xref: HP:0100247 {source="MONDO:otherHierarchy"}
xref: icd11.foundation:1300687612 {source="MONDO:equivalentTo", source="Orphanet:396", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:900733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1242 {source="MONDO:NORD"}
xref: Orphanet:396 {source="GARD:0006657", source="MONDO:equivalentTo"}
xref: SCTID:716771000 {source="MONDO:equivalentTo"}
xref: UMLS:C0744898 {source="MEDGEN:900733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001292 {source="Orphanet:396"} ! autonomic nervous system disorder
intersection_of: MONDO:0001292 ! autonomic nervous system disorder
intersection_of: disease_has_major_feature HP:0100247 ! Recurrent singultus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018497"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccups" xsd:anyURI {source="GARD:0006657"}

[Term]
id: MONDO:0018335
name: obsolete deep dermatophytosis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4128" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021660

[Term]
id: MONDO:0018336
name: obsolete Silver-Russell syndrome due to a point mutation
comment: We cannot reliably subclass under it. Orphanet describes this under Silver-Russell syndrome.
subset: ordo_etiological_subtype {source="Orphanet:397590"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:397590"}
xref: GARD:17628 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.1 {source="Orphanet:397590/attributed", source="Orphanet:397590/ntbt", source="Orphanet:397590"}
xref: Orphanet:397590 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1842" xsd:anyURI
is_obsolete: true
consider: MONDO:0008394

[Term]
id: MONDO:0018337
name: obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
subset: ordo_disorder {source="Orphanet:397593"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17629 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E88.8 {source="Orphanet:397593", source="Orphanet:397593/attributed", source="Orphanet:397593/ntbt"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018338
name: activated PI3K-delta syndrome
subset: gard_rare {source="GARD:11983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397596"}
subset: orphanet_rare {source="Orphanet:397596"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "APDS" EXACT ABBREVIATION [Orphanet:397596]
synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT [Orphanet:397596]
xref: GARD:11983 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:397596", source="Orphanet:397596/attributed", source="Orphanet:397596/ntbt"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C585640 {source="MONDO:equivalentTo"}
xref: Orphanet:397596 {source="MONDO:equivalentTo"}
xref: SCTID:711480000 {source="MONDO:equivalentTo"}
is_a: MONDO:0015977 {source="Orphanet:397596"} ! agammaglobulinemia

[Term]
id: MONDO:0018339
name: PrP systemic amyloidosis
def: "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." [Orphanet:397606]
subset: gard_rare {source="GARD:21632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397606"}
subset: orphanet_rare {source="Orphanet:397606"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic diarrhea with hereditary sensory and autonomic neuropathy" EXACT [Orphanet:397606]
synonym: "chronic diarrhea with HSAN" EXACT [Orphanet:397606]
synonym: "chronic diarrhoea with hereditary sensory and autonomic neuropathy" EXACT OMO:0003005 []
synonym: "chronic diarrhoea with HSAN" EXACT OMO:0003005 []
synonym: "prion protein systemic amyloidosis" EXACT [Orphanet:397606]
xref: GARD:21632 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:397606/attributed", source="Orphanet:397606/ntbt", source="Orphanet:397606"}
xref: MEDGEN:1377371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:397606 {source="MONDO:equivalentTo"}
xref: SCTID:733422008 {source="MONDO:equivalentTo"}
xref: UMLS:C4518776 {source="MEDGEN:1377371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005429 {source="https://orcid.org/0000-0002-4142-7153"} ! prion disease
relationship: excluded_subClassOf MONDO:0005020 {source="Orphanet:397606", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018340
name: obsolete hereditary isolated aplastic anemia
subset: ordo_disorder {source="Orphanet:397692"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17635 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D61.0 {source="Orphanet:397692", source="Orphanet:397692/ntbt", source="Orphanet:397692/inclusion"}
xref: Orphanet:397692 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018341
name: 3q27.3 microdeletion syndrome
def: "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." [Orphanet:397695]
subset: gard_rare {source="GARD:21633", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397695"}
subset: orphanet_rare {source="Orphanet:397695"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(3)(q27.3)" EXACT [Orphanet:397695]
xref: GARD:21633 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:397695", source="Orphanet:397695/attributed", source="Orphanet:397695/ntbt"}
xref: MEDGEN:1651953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:397695 {source="MONDO:equivalentTo"}
xref: UMLS:C4749427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1651953"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:397695"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:397695"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr3q27.3 ! 3q27.3 (Human)
relationship: excluded_subClassOf MONDO:0016902 {source="Orphanet:397695", source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the long arm of chromosome 3
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018342
name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
def: "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes." [Orphanet:397715]
subset: gard_rare {source="GARD:17637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397715"}
subset: ordo_malformation_syndrome {source="Orphanet:397715"}
subset: orphanet_rare {source="Orphanet:397715"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JBTS with JATD" EXACT [Orphanet:397715]
synonym: "Joubert syndrome with JATD" EXACT [Orphanet:397715]
xref: GARD:17637 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:397715/attributed", source="Orphanet:397715/ntbt", source="Orphanet:397715"}
xref: MEDGEN:1371401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:397715 {source="MONDO:equivalentTo"}
xref: SCTID:733418003 {source="MONDO:equivalentTo"}
xref: UMLS:C4518774 {source="MEDGEN:1371401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015369 {source="Orphanet:397715"} ! Joubert syndrome and related disorders
is_a: MONDO:0015461 {source="Orphanet:397715"} ! short rib-polydactyly syndrome

[Term]
id: MONDO:0018343
name: periodic paralysis with later-onset distal motor neuropathy
subset: gard_rare {source="GARD:21634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397750"}
subset: orphanet_rare {source="Orphanet:397750"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21634 {source="MONDO:GARD"}
xref: ICD10CM:G72.3 {source="Orphanet:397750", source="Orphanet:397750/attributed", source="Orphanet:397750/ntbt"}
xref: MEDGEN:1670241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:397750 {source="MONDO:equivalentTo"}
xref: UMLS:C4751573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670241"}
is_a: MONDO:0016122 {source="MONDO:Redundant", source="Orphanet:397750"} ! periodic paralysis
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019056 {source="Orphanet:397750"} ! neuromuscular disease
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0018344
name: obsolete periodic paralysis with transient compartment-like syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingPhenotype. Term to consider: -none
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397755"}
xref: GARD:21635 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G72.3 {source="Orphanet:397755", source="Orphanet:397755/attributed", source="Orphanet:397755/ntbt"}
xref: Orphanet:397755 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018345
name: obsolete T+ B+ severe combined immunodeficiency
is_obsolete: true
consider: MONDO:0044200
consider: MONDO:0044201

[Term]
id: MONDO:0018346
name: ferro-cerebro-cutaneous syndrome
def: "Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth." [Orphanet:397922]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:21637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397922"}
subset: orphanet_rare {source="Orphanet:397922"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebro-cutaneous syndrome with iron overload" EXACT [Orphanet:397922]
synonym: "FCCS" EXACT ABBREVIATION [OMIM:301072]
xref: GARD:21637 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:397922/attributed", source="Orphanet:397922/ntbt", source="Orphanet:397922"}
xref: MEDGEN:1658844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301072 {source="MONDO:equivalentTo"}
xref: Orphanet:397922 {source="MONDO:equivalentTo"}
xref: UMLS:C4751570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1658844"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005066 {source="Orphanet:397922"} ! metabolic disease
is_a: MONDO:0024237 {source="Orphanet:397922"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015115"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5349" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI

[Term]
id: MONDO:0018347
name: obsolete severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
subset: otar {source="MONDO:OTAR"}
xref: GARD:13221 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7283" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010656

[Term]
id: MONDO:0018348
name: obsolete polyglucosan body myopathy type 1
xref: NANDO:2200456 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2668" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014389

[Term]
id: MONDO:0018349
name: MAN1B1-congenital disorder of glycosylation
def: "MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3)." [Orphanet:397941]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397941"}
subset: orphanet_rare {source="Orphanet:397941"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency" EXACT [Orphanet:397941]
synonym: "congenital disorder of glycosylation type 2 due to MAN1B1 deficiency" EXACT [Orphanet:397941]
synonym: "congenital disorder of glycosylation type II due to MAN1B1 deficiency" EXACT [Orphanet:397941]
synonym: "intellectual disability-truncal obesity syndrome" EXACT [Orphanet:397941]
synonym: "MAN1B1-CDG" EXACT ABBREVIATION [Orphanet:397941]
synonym: "MAN1B1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [Orphanet:397941]
xref: GARD:12417 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:397941", source="Orphanet:397941/attributed", source="Orphanet:397941/ntbt"}
xref: MEDGEN:1375785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:397941 {source="MONDO:equivalentTo"}
xref: SCTID:733450008 {source="MONDO:equivalentTo"}
xref: UMLS:C4518783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1375785"}
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0017740 {source="Orphanet:397941"} ! disorder of protein N-glycosylation
intersection_of: MONDO:0015286 ! congenital disorder of glycosylation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6823 ! MAN1B1
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg" xsd:anyURI {source="GARD:0012417"}

[Term]
id: MONDO:0018350
name: obsolete malignant tumor of penis
is_obsolete: true
replaced_by: MONDO:0001325

[Term]
id: MONDO:0018351
name: obsolete adenocarcinoma of penis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002653

[Term]
id: MONDO:0018352
name: squamous cell carcinoma of penis
def: "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)" [NCIT:C7729]
subset: gard_rare {source="GARD:21639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398058"}
subset: orphanet_rare {source="Orphanet:398058"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of penis" EXACT [NCIT:C7729]
synonym: "epidermoid carcinoma of the penis" EXACT [NCIT:C7729]
synonym: "epidermoid cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729]
synonym: "epidermoid cell carcinoma of the penis" EXACT [NCIT:C7729]
synonym: "penile epidermoid carcinoma" EXACT [NCIT:C7729]
synonym: "penile epidermoid cell carcinoma" EXACT [NCIT:C7729]
synonym: "penile squamous car.(epidermoid)" EXACT [NCIT:C7729]
synonym: "penile squamous carcinoma (epidermoid)" EXACT [NCIT:C7729]
synonym: "penile squamous cell cancer" EXACT [NCIT:C7729]
synonym: "penile squamous cell carcinoma" EXACT [NCIT:C7729, Orphanet:398058]
synonym: "penis squamous cell carcinoma" EXACT [MONDO:0003484, MONDO:patterns/location]
synonym: "PSCC" RELATED ABBREVIATION [ONCOTREE:PSCC]
synonym: "squamous cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729]
synonym: "squamous cell carcinoma of the penis" EXACT [NCIT:C7729]
xref: DOID:5518 {source="MONDO:equivalentTo"}
xref: GARD:21639 {source="MONDO:GARD"}
xref: ICD10CM:C60.0 {source="Orphanet:398058", source="Orphanet:398058/ntbt"}
xref: ICD10CM:C60.1 {source="Orphanet:398058", source="Orphanet:398058/ntbt"}
xref: ICD10CM:C60.2 {source="Orphanet:398058", source="Orphanet:398058/ntbt"}
xref: ICD10CM:C60.8 {source="Orphanet:398058", source="Orphanet:398058/ntbt"}
xref: ICD10CM:C60.9 {source="Orphanet:398058", source="Orphanet:398058/ntbt"}
xref: icd11.foundation:186592209 {source="Orphanet:398058", source="MONDO:equivalentTo"}
xref: MEDGEN:116057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6979 {source="DOID:5518"}
xref: NCIT:C7729 {source="MONDO:equivalentTo", source="DOID:5518"}
xref: ONCOTREE:PSCC {source="MONDO:equivalentTo"}
xref: Orphanet:398058 {source="MONDO:equivalentTo"}
xref: SCTID:403468003 {source="MONDO:equivalentTo", source="DOID:5518"}
xref: UMLS:C0238348 {source="MEDGEN:116057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001325 {source="DOID:5518/inferred", source="MONDO:0018352/inferred", source="MONDO:Redundant", source="NCIT:C7729/inferred", source="Orphanet:398058"} ! penile cancer
is_a: MONDO:0005096 {source="DOID:5518", source="MONDO:Redundant", source="NCIT:C7729"} ! squamous cell carcinoma
is_a: MONDO:0006360 {source="DOID:5518", source="MONDO:Redundant", source="NCIT:C7729"} ! penile carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0018353
name: refractory celiac disease
def: "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
subset: gard_rare {source="GARD:21640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1653"}
subset: ordo_disorder {source="Orphanet:398063"}
subset: orphanet_rare {source="Orphanet:398063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intractable celiac sprue" EXACT [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
synonym: "intractable coeliac sprue" EXACT OMO:0003005 []
synonym: "refractory CD" EXACT [Orphanet:398063]
synonym: "refractory sprue" EXACT [Orphanet:398063]
synonym: "type I refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
synonym: "type II refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
xref: EFO:0009266 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21640 {source="MONDO:GARD"}
xref: ICD10CM:K90.0 {source="MONDO:relatedTo", source="Orphanet:398063/ntbt", source="Orphanet:398063"}
xref: MEDGEN:1670595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1653 {source="MONDO:NORD"}
xref: Orphanet:398063 {source="MONDO:equivalentTo"}
xref: UMLS:C4749333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670595"}
is_a: MONDO:0005020 {source="Orphanet:398063"} ! intestinal disorder
relationship: disease_shares_features_of MONDO:0005130 ! celiac disease
relationship: has_characteristic HP:0031375 ! Refractory
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare

[Term]
id: MONDO:0018354
name: Prader-Willi-like syndrome
def: "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities." [Orphanet:398073]
subset: gard_rare {source="GARD:21641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:398073"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PWS-like" EXACT [Orphanet:398073]
xref: GARD:21641 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:398073/attributed", source="Orphanet:398073/ntbt", source="Orphanet:398073"}
xref: MEDGEN:816207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398073 {source="MONDO:equivalentTo"}
xref: UMLS:C3809877 {source="MEDGEN:816207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
is_a: MONDO:0015160 {source="Orphanet:398073"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0018355
name: SIM1-related Prader-Willi-like syndrome
subset: gard_rare {source="GARD:21642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398079"}
subset: orphanet_rare {source="Orphanet:398079"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Prader-Willi-like syndrome due to a point mutation" RELATED DEPRECATED [Orphanet:398079]
synonym: "PWS-like due to a point mutation" RELATED DEPRECATED [Orphanet:398079]
synonym: "PWS-like due to point mutation" RELATED DEPRECATED [Orphanet:398079]
synonym: "SIM1-related PWLS" EXACT [Orphanet:398079]
xref: GARD:21642 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:398079/attributed", source="Orphanet:398079/ntbt", source="Orphanet:398079"}
xref: MEDGEN:1802084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398079 {source="MONDO:equivalentTo"}
xref: UMLS:C5680040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802084"}
is_a: MONDO:0018354 {source="Orphanet:398079"} ! Prader-Willi-like syndrome
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0018356
name: secondary neonatal autoimmune disease
subset: disease_grouping
subset: gard_rare {source="GARD:21643", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:398091"}
subset: rare
synonym: "Transplacentally acquired neonatal autoimmune disease" EXACT [Orphanet:398091]
xref: GARD:21643 {source="MONDO:GARD"}
xref: MEDGEN:1842254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398091 {source="MONDO:equivalentTo"}
xref: UMLS:C5680041 {source="MEDGEN:1842254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="Orphanet:398091"} ! autoimmune disease

[Term]
id: MONDO:0018357
name: neonatal antiphospholipid syndrome
subset: gard_rare {source="GARD:21644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398097"}
subset: orphanet_rare {source="Orphanet:398097"}
subset: rare
synonym: "neonatal antiphospholipid antibody syndrome" EXACT [Orphanet:398097]
synonym: "neonatal Hughes syndrome" EXACT [Orphanet:398097]
xref: GARD:21644 {source="MONDO:GARD"}
xref: ICD10CM:D68.6 {source="Orphanet:398097/ntbt", source="Orphanet:398097"}
xref: MEDGEN:1664921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398097 {source="MONDO:equivalentTo"}
xref: UMLS:C4751518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1664921"}
is_a: MONDO:0018356 {source="Orphanet:398097"} ! secondary neonatal autoimmune disease
is_a: MONDO:0021008 ! secondary antiphospholipid syndrome

[Term]
id: MONDO:0018358
name: neonatal autoimmune hemolytic anemia
subset: gard_rare {source="GARD:21645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398109"}
subset: orphanet_rare {source="Orphanet:398109"}
subset: rare
synonym: "neonatal AHA" EXACT [Orphanet:398109]
synonym: "neonatal AIHA" EXACT [Orphanet:398109]
xref: GARD:21645 {source="MONDO:GARD"}
xref: ICD10CM:D59.1 {source="Orphanet:398109/ntbt", source="Orphanet:398109"}
xref: MEDGEN:1662969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398109 {source="MONDO:equivalentTo"}
xref: UMLS:C4751517 {source="MEDGEN:1662969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="https://orcid.org/0000-0002-6601-2165"} ! hemolytic anemia
is_a: MONDO:0018356 {source="Orphanet:398109"} ! secondary neonatal autoimmune disease

[Term]
id: MONDO:0018359
name: neonatal dermatomyositis
subset: gard_rare {source="GARD:21646", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398117"}
subset: orphanet_rare {source="Orphanet:398117"}
subset: rare
synonym: "neonatal DM" EXACT [Orphanet:398117]
xref: GARD:21646 {source="MONDO:GARD"}
xref: ICD10CM:M33.1 {source="Orphanet:398117", source="Orphanet:398117/ntbt"}
xref: MEDGEN:1649267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398117 {source="MONDO:equivalentTo"}
xref: UMLS:C4751516 {source="MEDGEN:1649267", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016367 {source="https://orcid.org/0000-0002-6601-2165"} ! dermatomyositis
is_a: MONDO:0018356 {source="Orphanet:398117"} ! secondary neonatal autoimmune disease

[Term]
id: MONDO:0018360
name: neonatal lupus erythematosus
def: "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." [NCIT:C99236]
subset: gard_rare {source="GARD:21647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1495"}
subset: ordo_disorder {source="Orphanet:398124"}
subset: orphanet_rare {source="Orphanet:398124"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital lupus" RELATED [GARD:0009563]
synonym: "congenital lupus erythematosus" RELATED [GARD:0009563]
synonym: "Neonatal Lupus" EXACT [NORD:1495]
synonym: "neonatal lupus" RELATED [GARD:0009563]
synonym: "neonatal lupus syndrome" RELATED [GARD:0009563]
synonym: "neonatal SLE" RELATED [GARD:0009563]
synonym: "neonatal systemic lupus erythematosus" RELATED [GARD:0009563]
xref: EFO:0004537 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21647 {source="MONDO:GARD"}
xref: ICD10CM:M32.8 {source="Orphanet:398124", source="Orphanet:398124/ntbt"}
xref: icd11.foundation:213855225 {source="Orphanet:398124", source="MONDO:equivalentTo"}
xref: MEDGEN:98372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536397 {source="MONDO:equivalentTo"}
xref: NCIT:C99236 {source="MONDO:equivalentTo", source="EFO:0004537"}
xref: NORD:1495 {source="MONDO:NORD"}
xref: Orphanet:398124 {source="MONDO:equivalentTo"}
xref: SCTID:95609003 {source="MONDO:equivalentTo", source="EFO:0004537"}
xref: UMLS:C0409979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98372"}
is_a: MONDO:0007915 {source="EFO:0004537", source="NCIT:C99236"} ! systemic lupus erythematosus
is_a: MONDO:0018356 {source="Orphanet:398124"} ! secondary neonatal autoimmune disease

[Term]
id: MONDO:0018361
name: neonatal scleroderma
subset: gard_rare {source="GARD:21648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398127"}
subset: orphanet_rare {source="Orphanet:398127"}
subset: rare
xref: GARD:21648 {source="MONDO:GARD"}
xref: ICD10CM:P83.8 {source="Orphanet:398127", source="Orphanet:398127/ntbt"}
xref: MEDGEN:1652107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398127 {source="MONDO:equivalentTo"}
xref: UMLS:C4509425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1652107"}
is_a: MONDO:0018356 {source="Orphanet:398127"} ! secondary neonatal autoimmune disease
is_a: MONDO:0019340 {source="https://orcid.org/0000-0002-6601-2165"} ! scleroderma

[Term]
id: MONDO:0018362
name: persistent idiopathic facial pain
comment: Editor note: TODO add HPO class
subset: gard_rare {source="GARD:21649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398147"}
subset: orphanet_rare {source="Orphanet:398147"}
subset: rare
synonym: "AFP" EXACT ABBREVIATION [Orphanet:398147]
synonym: "atypical facial pain" EXACT [Orphanet:398147]
synonym: "PIFP" EXACT ABBREVIATION [Orphanet:398147]
xref: GARD:21649 {source="MONDO:GARD"}
xref: ICD10CM:G50.1 {source="Orphanet:398147", source="Orphanet:398147/e"}
xref: MEDGEN:1673850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398147 {source="MONDO:equivalentTo"}
xref: UMLS:C5191641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673850"}
is_a: MONDO:0005071 {source="Orphanet:398147"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018363
name: focal facial dermal dysplasia
def: "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." [Orphanet:398166]
subset: gard_rare {source="GARD:8416", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398166"}
subset: ordo_malformation_syndrome {source="Orphanet:398166"}
subset: orphanet_rare {source="Orphanet:398166"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FFDD" EXACT ABBREVIATION [Orphanet:398166]
xref: GARD:8416 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:398166", source="Orphanet:398166/attributed", source="Orphanet:398166/ntbt"}
xref: MEDGEN:445408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537068 {source="MONDO:equivalentTo"}
xref: OMIMPS:136500 {source="MONDO:equivalentTo"}
xref: Orphanet:398166 {source="MONDO:equivalentTo"}
xref: UMLS:C2936827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:445408"}
is_a: MONDO:0019287 {source="Orphanet:398166"} ! ectodermal dysplasia syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:136500"} ! inherited

[Term]
id: MONDO:0018364
name: malignant epithelial tumor of ovary
def: "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor." [NCIT:C40026]
comment: Editor note: check inference with carcinoma
subset: disease_grouping
subset: gard_rare {source="GARD:9362", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:398934"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epithelial cancer of ovary" EXACT [Orphanet:398934]
synonym: "malignant ovarian epithelial tumor" EXACT [NCIT:C40026]
synonym: "malignant ovarian epithelial tumour" EXACT OMO:0003005 []
synonym: "malignant ovarian surface epithelial-stromal neoplasm" EXACT [DOID:2151, https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/167, NCIT:C40026]
synonym: "malignant ovarian surface epithelial-stromal tumor" EXACT [NCIT:C40026]
synonym: "malignant ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 []
synonym: "ovarian epithelial cancer" EXACT [Orphanet:398934]
synonym: "ovarian epithelial tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "ovarian malignant epithelial tumor" EXACT [Orphanet:398934]
synonym: "ovarian malignant epithelial tumour" EXACT OMO:0003005 []
synonym: "ovarian stromal cancer" EXACT [NCIT:C40026]
xref: DOID:2151 {source="MONDO:equivalentTo"}
xref: GARD:9362 {source="MONDO:GARD"}
xref: MEDGEN:577291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538090 {source="MONDO:equivalentTo"}
xref: NCIT:C40026 {source="MONDO:equivalentTo", source="DOID:2151"}
xref: Orphanet:398934 {source="MONDO:equivalentTo"}
xref: SCTID:254849005 {source="MONDO:equivalentTo"}
xref: UMLS:C0346161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:577291"}
is_a: MONDO:0002229 {source="DOID:2151", source="MONDO:Redundant", source="NCIT:C40026"} ! ovarian epithelial tumor
is_a: MONDO:0008170 {source="DOID:2151/inferred", source="MESH:C538090", source="MONDO:Redundant", source="NCIT:C40026", source="Orphanet:398934"} ! ovarian cancer
intersection_of: MONDO:0002229 ! ovarian epithelial tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
disjoint_from: MONDO:0018365 ! malignant non-epithelial tumor of ovary

[Term]
id: MONDO:0018365
name: malignant non-epithelial tumor of ovary
comment: Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma
subset: disease_grouping
subset: gard_rare {source="GARD:21650", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:398940"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-epithelial cancer of ovary" EXACT [Orphanet:398940]
synonym: "ovarian malignant non-epithelial tumor" EXACT [Orphanet:398940]
synonym: "ovarian malignant non-epithelial tumour" EXACT OMO:0003005 []
synonym: "ovarian non-epithelial cancer" EXACT [Orphanet:398940]
xref: GARD:21650 {source="MONDO:GARD"}
xref: MEDGEN:1843209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:398940 {source="MONDO:equivalentTo"}
xref: UMLS:C5680039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843209"}
is_a: MONDO:0008170 {source="Orphanet:398940"} ! ovarian cancer

[Term]
id: MONDO:0018366
name: obsolete mucinous adenocarcinoma of ovary
is_obsolete: true
replaced_by: MONDO:0005601

[Term]
id: MONDO:0018367
name: obsolete clear cell adenocarcinoma of ovary
is_obsolete: true
replaced_by: MONDO:0006045

[Term]
id: MONDO:0018368
name: primary peritoneal serous/papillary carcinoma
subset: gard_rare {source="GARD:21653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "peritoneal serous papillary adenocarcinoma" EXACT [MONDO:0003817]
synonym: "PPSPC" EXACT ABBREVIATION [Orphanet:398980]
synonym: "primary peritoneal serous papillary adenocarcinoma" EXACT [NCIT:C7695]
synonym: "primary peritoneal serous papillary carcinoma" EXACT [NCIT:C7695]
synonym: "primary serous papillary carcinoma of peritoneum" EXACT [DOID:6228, NCIT:C7695]
xref: DOID:6228 {source="MONDO:equivalentTo"}
xref: GARD:21653 {source="MONDO:GARD"}
xref: ICD10CM:C48.0 {source="Orphanet:398980", source="Orphanet:398980/ntbt"}
xref: ICD10CM:C48.1 {source="Orphanet:398980", source="Orphanet:398980/ntbt"}
xref: ICD10CM:C48.2 {source="Orphanet:398980", source="Orphanet:398980/ntbt"}
xref: ICD10CM:C48.8 {source="Orphanet:398980", source="Orphanet:398980/ntbt"}
xref: MEDGEN:237154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7695 {source="DOID:6228", source="MONDO:equivalentTo"}
xref: Orphanet:398980 {source="MONDO:equivalentTo"}
xref: SCTID:15674004 {source="DOID:6228"}
xref: UMLS:C1368918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237154"}
is_a: MONDO:0003195 {source="DOID:6228"} ! peritoneal serous adenocarcinoma
is_a: MONDO:0006386 {source="NCIT:C7695"} ! primary peritoneal serous adenocarcinoma
is_a: MONDO:0018364 {source="Orphanet:398980"} ! malignant epithelial tumor of ovary

[Term]
id: MONDO:0018369
name: immature ovarian teratoma
def: "A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients." [NCIT:C8111]
subset: gard_rare {source="GARD:21654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:398987"}
subset: orphanet_rare {source="Orphanet:398987"}
subset: rare
synonym: "immature germ cell teratoma of ovary" EXACT [NCIT:C8111]
synonym: "immature germ cell teratoma of the ovary" EXACT [NCIT:C8111]
synonym: "immature ovarian teratoma" EXACT [NCIT:C8111]
synonym: "immature teratoma" RELATED [ONCOTREE:OIMT]
synonym: "immature teratoma of ovary" EXACT [MONDO:0003855, NCIT:C8111, Orphanet:398987]
synonym: "immature teratoma of the ovary" EXACT [NCIT:C8111]
synonym: "malignant germ cell teratoma of ovary" EXACT [NCIT:C8111]
synonym: "malignant germ cell teratoma of the ovary" EXACT [NCIT:C8111]
synonym: "malignant ovarian germ cell teratoma" EXACT [NCIT:C8111]
synonym: "malignant ovarian teratoma" EXACT [NCIT:C8111]
synonym: "malignant teratoma of ovary" EXACT [DOID:6331, NCIT:C8111]
synonym: "malignant teratoma of the ovary" EXACT [NCIT:C8111]
synonym: "ovarian germ cell immature teratoma" EXACT [NCIT:C8111]
synonym: "ovarian immature germ cell teratoma" EXACT [NCIT:C8111]
synonym: "ovarian immature teratoma" EXACT [NCIT:C8111, Orphanet:398987]
synonym: "ovarian malignant teratoma" EXACT [Orphanet:398987]
synonym: "ovary malignant teratoma" EXACT [MONDO:patterns/location]
xref: DOID:6331 {source="MONDO:equivalentTo"}
xref: GARD:21654 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:398987", source="Orphanet:398987/ntbt"}
xref: icd11.foundation:551209361 {source="MONDO:equivalentTo", source="Orphanet:398987", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:138044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8111 {source="MONDO:equivalentTo", source="DOID:6331"}
xref: ONCOTREE:OIMT {source="MONDO:equivalentTo"}
xref: Orphanet:398987 {source="MONDO:equivalentTo"}
xref: SCTID:254871000 {source="MONDO:equivalentTo", source="DOID:6331"}
xref: UMLS:C0346182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138044"}
is_a: MONDO:0003514 {source="DOID:6331", source="MONDO:Redundant"} ! malignant teratoma
is_a: MONDO:0003821 {source="NCIT:C8111"} ! ovarian biphasic or triphasic teratoma
is_a: MONDO:0018171 {source="DOID:6331", source="NCIT:C8111"} ! malignant germ cell tumor of ovary
intersection_of: MONDO:0003514 ! malignant teratoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0018370
name: KLHL9-related early-onset distal myopathy
def: "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life." [Orphanet:399081]
subset: gard_rare {source="GARD:21655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399081"}
subset: orphanet_rare {source="Orphanet:399081"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21655 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:399081", source="Orphanet:399081/attributed", source="Orphanet:399081/ntbt"}
xref: MEDGEN:1647584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:399081 {source="MONDO:equivalentTo"}
xref: SCTID:763776004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706574 {source="MEDGEN:1647584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016108 {source="Orphanet:399081"} ! autosomal dominant distal myopathy

[Term]
id: MONDO:0018371
name: nebulin-related early-onset distal myopathy
subset: gard_rare {source="GARD:21656", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399103"}
subset: orphanet_rare {source="Orphanet:399103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal nebulin myopathy" RELATED [Orphanet:399103]
xref: GARD:21656 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:399103", source="Orphanet:399103/attributed", source="Orphanet:399103/ntbt"}
xref: MEDGEN:1677937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:399103 {source="MONDO:equivalentTo"}
xref: UMLS:C5190827 {source="MEDGEN:1677937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018949 {source="PMID:26403434", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0009-0001-6494-4831"} ! distal myopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018372
name: obsolete osteonecrosis
is_obsolete: true
replaced_by: MONDO:0005380

[Term]
id: MONDO:0018373
name: avascular necrosis
def: "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." [NCIT:C34841]
subset: disease_grouping
subset: gard_rare {source="GARD:21658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:399164"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "avascular necrosis of bone" EXACT [DOID:10159, NCIT:C34841]
synonym: "AVN" EXACT ABBREVIATION [Orphanet:399164]
xref: GARD:21658 {source="MONDO:GARD"}
xref: ICD10CM:M87.0 {source="Orphanet:399164/btnt", source="Orphanet:399164"}
xref: ICD10CM:M87.1 {source="Orphanet:399164/btnt", source="Orphanet:399164"}
xref: ICD10CM:M87.2 {source="Orphanet:399164/btnt", source="Orphanet:399164"}
xref: ICD10CM:M87.3 {source="Orphanet:399164/btnt", source="Orphanet:399164"}
xref: ICD10CM:M87.8 {source="Orphanet:399164/btnt", source="Orphanet:399164"}
xref: ICD10CM:M87.9 {source="Orphanet:399164/btnt", source="Orphanet:399164"}
xref: MEDGEN:10200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34841 {source="MONDO:equivalentTo"}
xref: Orphanet:399164 {source="MONDO:equivalentTo"}
xref: SCTID:397758007 {source="MONDO:equivalentTo"}
xref: UMLS:C0027543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10200"}
is_a: MONDO:0005380 {source="NCIT:C34841", source="Orphanet:399164"} ! osteonecrosis

[Term]
id: MONDO:0018374
name: secondary avascular necrosis
subset: disease_grouping
subset: gard_rare {source="GARD:21659", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:399169"}
subset: rare
synonym: "secondary AVN" EXACT [Orphanet:399169]
xref: GARD:21659 {source="MONDO:GARD"}
xref: ICD10CM:M87.1 {source="Orphanet:399169", source="Orphanet:399169/ntbt"}
xref: ICD10CM:M87.2 {source="Orphanet:399169", source="Orphanet:399169/ntbt"}
xref: ICD10CM:M87.3 {source="Orphanet:399169", source="Orphanet:399169/ntbt"}
xref: MEDGEN:1842971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:399169 {source="MONDO:equivalentTo"}
xref: UMLS:C5680036 {source="MEDGEN:1842971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018373 {source="Orphanet:399169"} ! avascular necrosis

[Term]
id: MONDO:0018375
name: traumatic avascular necrosis
subset: gard_rare {source="GARD:21660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399175"}
subset: orphanet_rare {source="Orphanet:399175"}
subset: rare
synonym: "traumatic AVN" EXACT [Orphanet:399175]
xref: GARD:21660 {source="MONDO:GARD"}
xref: ICD10CM:M87.2 {source="Orphanet:399175/e", source="Orphanet:399175"}
xref: icd11.foundation:822486319 {source="MONDO:equivalentTo", source="Orphanet:399175", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1802844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:399175 {source="MONDO:equivalentTo"}
xref: UMLS:C5680037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802844"}
is_a: MONDO:0018374 {source="Orphanet:399175"} ! secondary avascular necrosis

[Term]
id: MONDO:0018376
name: secondary non-traumatic avascular necrosis
subset: gard_rare {source="GARD:21661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399180"}
subset: orphanet_rare {source="Orphanet:399180"}
subset: rare
synonym: "secondary non-traumatic AVN" EXACT [Orphanet:399180]
xref: GARD:21661 {source="MONDO:GARD"}
xref: ICD10CM:M87.1 {source="Orphanet:399180", source="Orphanet:399180/ntbt"}
xref: ICD10CM:M87.3 {source="Orphanet:399180", source="Orphanet:399180/ntbt"}
xref: MEDGEN:1684106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:399180 {source="MONDO:equivalentTo"}
xref: UMLS:C5192430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684106"}
is_a: MONDO:0018374 {source="Orphanet:399180"} ! secondary avascular necrosis

[Term]
id: MONDO:0018377
name: obsolete rare hereditary disease with avascular necrosis
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399185"}
xref: GARD:21662 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:399185 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018378
name: osteonecrosis of the jaw
def: "An area of necrotic bone in the mandible or maxilla." [NCIT:C63924]
subset: gard_rare {source="GARD:21663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399293"}
subset: orphanet_rare {source="Orphanet:399293"}
subset: rare
synonym: "jaw osteonecrosis" EXACT [NCIT:C63924]
synonym: "ONJ" EXACT ABBREVIATION [NCIT:C63924]
synonym: "osteonecrosis of jaw" EXACT [NCIT:C63924]
xref: GARD:21663 {source="MONDO:GARD"}
xref: ICD9:733.45 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:751019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C63924 {source="MONDO:equivalentTo"}
xref: Orphanet:399293 {source="MONDO:equivalentTo"}
xref: SCTID:441809006 {source="MONDO:equivalentTo"}
xref: UMLS:C2711248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:751019"}
is_a: MONDO:0005380 {source="MONDO:Redundant", source="NCIT:C63924", source="Orphanet:399293/inferred"} ! osteonecrosis
is_a: MONDO:0018374 {source="Orphanet:399293"} ! secondary avascular necrosis

[Term]
id: MONDO:0018379
name: primary avascular necrosis
subset: disease_grouping
subset: gard_rare {source="GARD:21664", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:399302"}
subset: rare
synonym: "primary AVN" EXACT [Orphanet:399302]
xref: GARD:21664 {source="MONDO:GARD"}
xref: ICD10CM:M87.8 {source="Orphanet:399302/ntbt", source="Orphanet:399302"}
xref: MEDGEN:1842421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:399302 {source="MONDO:equivalentTo"}
xref: UMLS:C5680038 {source="MEDGEN:1842421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018373 {source="Orphanet:399302"} ! avascular necrosis

[Term]
id: MONDO:0018380
name: idiopathic avascular necrosis
subset: gard_rare {source="GARD:21665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399307"}
subset: orphanet_rare {source="Orphanet:399307"}
subset: rare
synonym: "idiopathic AVN" EXACT [Orphanet:399307]
xref: GARD:21665 {source="MONDO:GARD"}
xref: ICD10CM:M87.0 {source="Orphanet:399307", source="Orphanet:399307/e"}
xref: icd11.foundation:551598148 {source="MONDO:equivalentTo", source="Orphanet:399307", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:399307 {source="MONDO:equivalentTo"}
is_a: MONDO:0018379 {source="Orphanet:399307"} ! primary avascular necrosis
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018381
name: osteochondrosis
def: "A condition that is characterized by defective bone growth that affects the growth centers of bone." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:12704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:399319"}
subset: rare
synonym: "apophysitis" EXACT [DOID:8125]
synonym: "epiphyseal necrosis" EXACT [DOID:8125]
synonym: "epiphyseal necrosis, NOS" RELATED EXCLUDE [DOID:8125]
synonym: "epiphysitis" EXACT [DOID:8125]
synonym: "osteochondritis" RELATED [DOID:8125]
synonym: "osteochondritis juvenilis" RELATED [DOID:8125]
synonym: "osteochondrosis not specified as adult or juvenile, of unspecified site" EXACT [DOID:8125]
xref: DOID:8125 {source="MONDO:equivalentTo"}
xref: GARD:12704 {source="MONDO:GARD"}
xref: ICD10CM:M42 {source="MONDO:equivalentTo"}
xref: ICD10CM:M92 {source="DOID:8125"}
xref: ICD10CM:M93.9 {source="Orphanet:399319/ntbt", source="Orphanet:399319", source="DOID:8125"}
xref: icd11.foundation:1446309782 {source="MONDO:equivalentTo", source="Orphanet:399319", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:732.6 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:8125"}
xref: MEDGEN:18216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055034 {source="MONDO:equivalentTo", source="DOID:8125"}
xref: NCIT:C34879 {source="MONDO:equivalentTo", source="DOID:8125"}
xref: Orphanet:399319 {source="MONDO:equivalentTo"}
xref: SCTID:123256004 {source="DOID:8125"}
xref: SCTID:156822009 {source="DOID:8125"}
xref: SCTID:19579005 {source="MONDO:equivalentTo", source="DOID:8125"}
xref: SCTID:203398006 {source="DOID:8125"}
xref: SCTID:268125000 {source="DOID:8125"}
xref: SCTID:65477003 {source="DOID:8125"}
xref: UMLS:C0029429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18216"}
is_a: MONDO:0005380 {source="DOID:8125", source="Orphanet:399319"} ! osteonecrosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12704/osteochondrosis" xsd:anyURI {source="GARD:0012704"}

[Term]
id: MONDO:0018382
name: epiphysiolysis of the hip
def: "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee)." [Orphanet:399329]
subset: gard_rare {source="GARD:21666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:399329"}
subset: orphanet_rare {source="Orphanet:399329"}
subset: rare
synonym: "epiphysiolysis capitis femoris" EXACT [OMIM:182260]
synonym: "epiphysiolysis of the upper femur" EXACT [Orphanet:399329]
synonym: "femoral head epiphysiolysis" EXACT [Orphanet:399329]
synonym: "SCFE" EXACT ABBREVIATION [Orphanet:399329]
synonym: "slipped capital femoral epiphysis" EXACT [Orphanet:399329]
synonym: "slipped femoral capital epiphyses" EXACT [OMIM:182260]
synonym: "slipped upper femoral epiphysis" EXACT [Orphanet:399329]
synonym: "SufE" EXACT [Orphanet:399329]
xref: GARD:21666 {source="MONDO:GARD"}
xref: ICD10CM:M93.9 {source="Orphanet:399329", source="Orphanet:399329/ntbt"}
xref: MESH:D060048 {source="MONDO:equivalentTo"}
xref: OMIM:182260 {source="MONDO:equivalentTo"}
xref: Orphanet:399329 {source="MONDO:equivalentTo"}
xref: SCTID:26460006 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="MESH:D060048/inferred"} ! hereditary disease
is_a: MONDO:0005380 {source="Orphanet:399329"} ! osteonecrosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7143" xsd:anyURI

[Term]
id: MONDO:0018383
name: osteonecrosis of genetic origin
def: "An instance of osteonecrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: disease_grouping
subset: gard_rare {source="GARD:21667", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:399380"}
subset: rare
synonym: "bone necrosis of genetic origin" EXACT [Orphanet:399380]
synonym: "genetic osteonecrosis" EXACT [MONDO:patterns/genetic]
xref: GARD:21667 {source="MONDO:GARD"}
xref: ICD10CM:M93.9 {source="Orphanet:399380/attributed", source="Orphanet:399380/ntbt", source="Orphanet:399380"}
xref: MEDGEN:1842788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:399380 {source="MONDO:equivalentTo"}
xref: UMLS:C5680035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842788"}
is_a: MONDO:0005381 {source="MONDO:Entailed", source="Orphanet:399380"} ! bone disorder
intersection_of: MONDO:0005380 ! osteonecrosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015958"} ! rare

[Term]
id: MONDO:0018384
name: obsolete avascular necrosis of genetic origin
def: "OBSOLETE. An instance of avascular necrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:399388"}
synonym: "genetic avascular necrosis" EXACT [MONDO:patterns/genetic]
xref: GARD:21668 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:M93.9 {source="Orphanet:399388/attributed", source="Orphanet:399388/ntbt", source="Orphanet:399388"}
xref: Orphanet:399388 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018385
name: obsolete osteochondrosis of genetic origin
def: "OBSOLETE. An instance of osteochondrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:399391"}
synonym: "genetic osteochondrosis" EXACT [MONDO:patterns/genetic]
xref: GARD:21669 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:M93.9 {source="Orphanet:399391/attributed", source="Orphanet:399391/ntbt", source="Orphanet:399391"}
xref: Orphanet:399391 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018386
name: obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399572"}
synonym: "rare male infertility due to gonadotropic axis disorder" EXACT [Orphanet:399572]
synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder" EXACT [Orphanet:399572]
xref: GARD:21670 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399572/ntbt", source="Orphanet:399572"}
xref: Orphanet:399572 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018387
name: obsolete rare male infertility due to adrenal disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399584"}
xref: GARD:21671 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399584", source="Orphanet:399584/ntbt"}
xref: Orphanet:399584 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018388
name: obsolete rare male infertility due to testicular endocrine disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399685"}
xref: GARD:21672 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399685/attributed", source="Orphanet:399685/ntbt", source="Orphanet:399685"}
xref: Orphanet:399685 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018389
name: obsolete male infertility due to gonadal dysgenesis or sperm disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility'
subset: ordo_group_of_disorders {source="Orphanet:399764"}
synonym: "Male infertility due to testicular dysgenesis or sperm disorder" EXACT [Orphanet:399764]
xref: GARD:21673 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399764/attributed", source="Orphanet:399764/ntbt", source="Orphanet:399764"}
xref: Orphanet:399764 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0018390
name: obsolete male infertility due to sperm disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility'
subset: ordo_group_of_disorders {source="Orphanet:399771"}
xref: GARD:21674 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399771", source="Orphanet:399771/attributed", source="Orphanet:399771/ntbt"}
xref: Orphanet:399771 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0018391
name: obsolete male infertility with spermatogenesis disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility'
subset: ordo_group_of_disorders {source="Orphanet:399775"}
xref: GARD:21675 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399775/attributed", source="Orphanet:399775/ntbt", source="Orphanet:399775"}
xref: Orphanet:399775 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0018392
name: obsolete male infertility with spermatogenesis disorder due to single gene mutation
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility'
subset: ordo_group_of_disorders {source="Orphanet:399786"}
xref: GARD:12513 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399786/attributed", source="Orphanet:399786/ntbt", source="Orphanet:399786"}
xref: Orphanet:399786 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12513/male-infertility-with-spermatogenesis-disorder-due-to-single-gene-mutation" xsd:anyURI {source="GARD:0012513"}
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0018393
name: obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation
def: "OBSOLETE. Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." [Orphanet:399805]
subset: ordo_disorder {source="Orphanet:399805"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:8530 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399805/attributed", source="Orphanet:399805/ntbt", source="Orphanet:399805"}
xref: Orphanet:399805 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018394
name: male infertility with teratozoospermia due to single gene mutation
def: "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." [Orphanet:399808]
subset: gard_rare {source="GARD:17654", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:399808"}
subset: orphanet_rare {source="Orphanet:399808"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17654 {source="MONDO:GARD"}
xref: ICD10CM:N46 {source="Orphanet:399808/attributed", source="Orphanet:399808/ntbt", source="Orphanet:399808"}
xref: MEDGEN:1643966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:399808 {source="MONDO:equivalentTo"}
xref: SCTID:764096006 {source="MONDO:equivalentTo"}
xref: UMLS:C4706677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643966"}
is_a: MONDO:0005372 {source="Orphanet:399808"} ! male infertility

[Term]
id: MONDO:0018395
name: obsolete male infertility due to sperm motility disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility'
subset: ordo_group_of_disorders {source="Orphanet:399813"}
synonym: "Male infertility due to asthenozoospermia" EXACT [Orphanet:399813]
xref: GARD:21676 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399813", source="Orphanet:399813/attributed", source="Orphanet:399813/ntbt"}
xref: Orphanet:399813 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0018396
name: obsolete rare male fertility disorder with obstructive azoospermia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399824"}
synonym: "rare disorder due to impaired sperm transport" EXACT [Orphanet:399824]
synonym: "rare disorder with obstructive azoospermia" RELATED [Orphanet:399824]
xref: GARD:21677 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:399824 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018397
name: obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399831"}
synonym: "rare female infertility due to gonadotropic axis disorder" EXACT [Orphanet:399831]
synonym: "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder" EXACT [Orphanet:399831]
xref: GARD:21678 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.0 {source="Orphanet:399831/ntbt", source="Orphanet:399831"}
xref: Orphanet:399831 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018398
name: obsolete female infertility due to a congenital hypogonadotropic hypogonadism
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility'
subset: ordo_group_of_disorders {source="Orphanet:399839"}
synonym: "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" EXACT [Orphanet:399846]
xref: GARD:21679 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.0 {source="Orphanet:399839/attributed", source="Orphanet:399839/ntbt", source="Orphanet:399839"}
xref: Orphanet:399839 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0021124

[Term]
id: MONDO:0018399
name: obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/414" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018398

[Term]
id: MONDO:0018400
name: obsolete rare female infertility due to an adrenal disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399849"}
xref: GARD:21681 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:399849 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018401
name: obsolete female infertility due to an anomaly of ovarian function
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399853"}
xref: GARD:21682 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.0 {source="Orphanet:399853/ntbt", source="Orphanet:399853"}
xref: Orphanet:399853 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018402
name: obsolete female infertility due to gonadal dysgenesis
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility'
subset: ordo_group_of_disorders {source="Orphanet:399877"}
synonym: "female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877]
synonym: "rare female infertility due to gonadal dysgenesis" RELATED [Orphanet:399877]
synonym: "rare female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877]
xref: GARD:21683 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.0 {source="Orphanet:399877", source="Orphanet:399877/attributed", source="Orphanet:399877/ntbt"}
xref: Orphanet:399877 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021124

[Term]
id: MONDO:0018403
name: obsolete female infertility due to an implantation defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility'
subset: ordo_group_of_disorders {source="Orphanet:399882"}
synonym: "rare female infertility due to an implantation defect" RELATED [Orphanet:399882]
xref: GARD:21684 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.2 {source="Orphanet:399882", source="MONDO:relatedTo", source="Orphanet:399882/ntbt"}
xref: Orphanet:399882 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021124

[Term]
id: MONDO:0018404
name: obsolete rare genetic male infertility
def: "OBSOLETE. Rare genetic male infertility." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399980"}
synonym: "rare genetic male infertility" EXACT []
xref: GARD:21685 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:399980 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005372

[Term]
id: MONDO:0018405
name: obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
def: "OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399983"}
synonym: "genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic]
synonym: "rare male infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:399983]
synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:399983]
xref: GARD:21686 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399983", source="Orphanet:399983/attributed", source="Orphanet:399983/ntbt"}
xref: Orphanet:399983 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018406
name: obsolete rare male infertility due to adrenal disorder of genetic origin
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:399994"}
xref: GARD:21687 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399994", source="Orphanet:399994/attributed", source="Orphanet:399994/ntbt"}
xref: Orphanet:399994 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018407
name: obsolete male infertility due to obstructive azoospermia of genetic origin
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility'
subset: ordo_group_of_disorders {source="Orphanet:399998"}
synonym: "Male infertility due to impaired sperm transport of genetic origin" EXACT [Orphanet:399998]
xref: GARD:21688 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:399998", source="Orphanet:399998/attributed", source="Orphanet:399998/ntbt"}
xref: Orphanet:399998 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0018408
name: cystic echinococcosis
subset: gard_rare {source="GARD:2764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:400"}
subset: orphanet_rare {source="Orphanet:400"}
subset: rare
synonym: "echinococcus granulosus" EXACT [DOID:1495]
synonym: "Echinococcus granulosus infection" EXACT [DOID:1495]
synonym: "Echinococcus granulosus infection of lung" EXACT [DOID:1495]
synonym: "Echinococcus granulosus infection of thyroid" EXACT [DOID:1495]
synonym: "echinococcus granulosus infectious disease" RELATED EXCLUDE [DOID:1495]
synonym: "Echinococcus granulosus infectious disease of liver" EXACT [DOID:1495]
synonym: "echinococcus granulosus infectious disease of liver" EXACT [DOID:1495]
synonym: "echinococcus granulosus infectious disease of thyroid" EXACT [DOID:1495]
synonym: "hydatid disease" EXACT [Orphanet:400]
synonym: "Hydatidosis" EXACT [Orphanet:400]
synonym: "liver echinococcus granulosus" EXACT [DOID:1495]
synonym: "lung echinococcus granulosus" EXACT [DOID:1495]
synonym: "thyroid echinococcus granulosus" EXACT [DOID:1495]
synonym: "unilocular echinococcosis" EXACT [DOID:1495]
synonym: "unilocular hydatid disease" EXACT [DOID:1495]
xref: DOID:1495 {source="MONDO:equivalentTo"}
xref: GARD:2764 {source="MONDO:GARD"}
xref: ICD10CM:B67.0 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.1 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.2 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.3 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.4 {source="Orphanet:400", source="DOID:1495", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.5 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.6 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.7 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.8 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD10CM:B67.9 {source="Orphanet:400", source="Orphanet:400/btnt"}
xref: ICD9:122.4 {source="DOID:1495"}
xref: MedDRA:10014096 {source="Orphanet:400", source="Orphanet:400/e"}
xref: MEDGEN:1639841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004443 {source="Orphanet:400", source="Orphanet:400/e"}
xref: Orphanet:400 {source="MONDO:equivalentTo"}
xref: SCTID:187138004 {source="DOID:1495"}
xref: SCTID:721822004 {source="MONDO:equivalentTo"}
xref: SCTID:75006000 {source="DOID:1495"}
xref: UMLS:C4553297 {source="MEDGEN:1639841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="MONDO:Entailed", source="Orphanet:400"} ! parasitic infectious disease
is_a: MONDO:0005738 {source="DOID:1495"} ! echinococcosis
is_a: MONDO:0044346 {source="Wikipedia:Echinococcosis#Cystic"} ! echinococcus granulosus infectious disease
relationship: disease_has_feature HP:0001025 ! Urticaria
relationship: disease_has_feature HP:0001880 ! Eosinophilia
relationship: disease_has_feature HP:0002105 ! Hemoptysis
relationship: disease_has_feature HP:0100845 ! Anaphylactic shock
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0018409
name: obsolete rare genetic disorder with obstructive azoospermia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:400003"}
synonym: "rare genetic disorder due to impaired sperm transport" EXACT [Orphanet:400003]
xref: GARD:21689 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:400003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018410
name: obsolete rare genetic female infertility
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:400008"}
xref: GARD:21690 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:400008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021124

[Term]
id: MONDO:0018411
name: obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
def: "OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:400011"}
synonym: "genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic]
synonym: "rare female infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:400011]
synonym: "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:400011]
xref: GARD:21691 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.0 {source="Orphanet:400011/attributed", source="Orphanet:400011/ntbt", source="Orphanet:400011"}
xref: Orphanet:400011 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018412
name: obsolete rare female infertility due to adrenal disorder of genetic origin
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:400018"}
xref: GARD:21692 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:400018 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018413
name: obsolete female infertility due to an anomaly of ovarian function of genetic origin
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:400022"}
xref: GARD:21693 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.0 {source="Orphanet:400022/attributed", source="Orphanet:400022/ntbt", source="Orphanet:400022"}
xref: Orphanet:400022 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018414
name: obsolete female infertility due to an implantation defect of genetic origin
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility'
subset: ordo_group_of_disorders {source="Orphanet:400025"}
xref: GARD:21694 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.2 {source="Orphanet:400025", source="MONDO:relatedTo", source="Orphanet:400025/attributed", source="Orphanet:400025/ntbt"}
xref: Orphanet:400025 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021124

[Term]
id: MONDO:0018415
name: obsolete hymenolepiasis
is_obsolete: true
replaced_by: MONDO:0005802

[Term]
id: MONDO:0018416
name: autosomal recessive spastic paraplegia type 59
subset: gard_rare {source="GARD:21695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401795"}
subset: orphanet_rare {source="Orphanet:401795"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPG59" EXACT ABBREVIATION [Orphanet:401795]
xref: GARD:21695 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401795", source="Orphanet:401795/attributed", source="Orphanet:401795/ntbt"}
xref: MEDGEN:1669596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401795 {source="MONDO:equivalentTo"}
xref: UMLS:C4750857 {source="MEDGEN:1669596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018417
name: autosomal recessive spastic paraplegia type 60
subset: gard_rare {source="GARD:21696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401800"}
subset: orphanet_rare {source="Orphanet:401800"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPG60" EXACT ABBREVIATION [Orphanet:401800]
xref: GARD:21696 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401800/attributed", source="Orphanet:401800/ntbt", source="Orphanet:401800"}
xref: MEDGEN:1683240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401800 {source="MONDO:equivalentTo"}
xref: UMLS:C5190589 {source="MEDGEN:1683240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018418
name: autosomal recessive spastic paraplegia type 66
subset: gard_rare {source="GARD:21697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401815"}
subset: orphanet_rare {source="Orphanet:401815"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPG66" EXACT ABBREVIATION [Orphanet:401815]
xref: GARD:21697 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401815", source="Orphanet:401815/attributed", source="Orphanet:401815/ntbt"}
xref: MEDGEN:1675102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401815 {source="MONDO:equivalentTo"}
xref: UMLS:C5190590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675102"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018419
name: autosomal recessive spastic paraplegia type 67
def: "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." [Orphanet:401820]
subset: gard_rare {source="GARD:21698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401820"}
subset: orphanet_rare {source="Orphanet:401820"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPG67" EXACT ABBREVIATION [Orphanet:401820]
xref: GARD:21698 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401820", source="Orphanet:401820/attributed", source="Orphanet:401820/ntbt"}
xref: MEDGEN:1644708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401820 {source="MONDO:equivalentTo"}
xref: SCTID:766767001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707829 {source="MEDGEN:1644708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018420
name: autosomal recessive spastic paraplegia type 68
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SPG68" EXACT ABBREVIATION [Orphanet:401825]
xref: ICD10CM:G11.4 {source="Orphanet:401825", source="Orphanet:401825/attributed", source="Orphanet:401825/ntbt"}
xref: Orphanet:401825 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018421
name: autosomal recessive spastic paraplegia type 69
subset: gard_rare {source="GARD:21699", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401830"}
subset: orphanet_rare {source="Orphanet:401830"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPG69" EXACT ABBREVIATION [Orphanet:401830]
xref: GARD:21699 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401830/attributed", source="Orphanet:401830/ntbt", source="Orphanet:401830"}
xref: MEDGEN:1679277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401830 {source="MONDO:equivalentTo"}
xref: UMLS:C5190577 {source="MEDGEN:1679277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018422
name: autosomal recessive spastic paraplegia type 70
def: "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." [Orphanet:401835]
subset: gard_rare {source="GARD:21700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401835"}
subset: orphanet_rare {source="Orphanet:401835"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPG70" EXACT ABBREVIATION [Orphanet:401835]
xref: GARD:21700 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401835", source="Orphanet:401835/attributed", source="Orphanet:401835/ntbt"}
xref: MEDGEN:1655287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401835 {source="MONDO:equivalentTo"}
xref: UMLS:C4749431 {source="MEDGEN:1655287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018423
name: autosomal recessive spastic paraplegia type 71
subset: gard_rare {source="GARD:21701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401840"}
subset: orphanet_rare {source="Orphanet:401840"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPG71" EXACT ABBREVIATION [Orphanet:401840]
xref: GARD:21701 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:401840", source="Orphanet:401840/attributed", source="Orphanet:401840/ntbt"}
xref: MEDGEN:1680976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401840 {source="MONDO:equivalentTo"}
xref: UMLS:C5190578 {source="MEDGEN:1680976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015149 {source="https://orcid.org/0000-0002-4142-7153"} ! pure hereditary spastic paraplegia
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018424
name: inherited lipoic acid biosynthesis defect
def: "An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:12679", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:401854"}
subset: rare
synonym: "inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn lipoate biosynthetic process disorder" EXACT []
synonym: "lipoate biosynthesis defect" EXACT [Orphanet:401854]
synonym: "lipoic acid biosynthesis defect" RELATED [Orphanet:401854]
synonym: "lipoic acid biosynthesis defects" RELATED [GARD:0012679]
synonym: "rare inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:12679 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:401854/attributed", source="Orphanet:401854/ntbt", source="Orphanet:401854"}
xref: MEDGEN:1843250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401854 {source="MONDO:equivalentTo"}
xref: UMLS:C5680006 {source="MEDGEN:1843250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 {source="Orphanet:401854"} ! inborn mitochondrial metabolism disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0009107 ! lipoate biosynthetic process

[Term]
id: MONDO:0018425
name: Huntington disease-like syndrome due to C9ORF72 expansions
subset: gard_rare {source="GARD:21702", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401901"}
subset: orphanet_rare {source="Orphanet:401901"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C9ORF72-related Huntington disease phenocopy" EXACT [Orphanet:401901]
synonym: "C9ORF72-related Huntington disease-like syndrome" EXACT [Orphanet:401901]
synonym: "Huntington disease phenocopy due to C9ORF72 expansions" EXACT [Orphanet:401901]
xref: GARD:21702 {source="MONDO:GARD"}
xref: ICD10CM:G10 {source="Orphanet:401901", source="Orphanet:401901/attributed", source="Orphanet:401901/ntbt"}
xref: MEDGEN:1676144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401901 {source="MONDO:equivalentTo"}
xref: UMLS:C5190586 {source="MONDO:equivalentTo", source="MEDGEN:1676144", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0015548 {source="Orphanet:401901"} ! Huntington disease-like syndrome
relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:401901"} ! dementia
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0018426
name: AXIN2-related attenuated familial adenomatous polyposis
subset: gard_rare {source="GARD:21703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:401911"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AXIN2-related AFAP" EXACT [Orphanet:401911]
synonym: "AXIN2-related attenuated familial polyposis coli" EXACT [Orphanet:401911]
synonym: "AXIN2-related attenuated FAP" EXACT [Orphanet:401911]
xref: GARD:21703 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:401911", source="Orphanet:401911/attributed", source="Orphanet:401911/ntbt"}
xref: MEDGEN:1826067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401911 {source="MONDO:equivalentTo"}
xref: UMLS:C5680012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826067"}
is_a: MONDO:0016362 {source="Orphanet:401911"} ! attenuated familial adenomatous polyposis

[Term]
id: MONDO:0018427
name: obsolete fibrolamellar carcinoma
is_obsolete: true
replaced_by: MONDO:0006210

[Term]
id: MONDO:0018428
name: 9q31.1q31.3 microdeletion syndrome
subset: gard_rare {source="GARD:21705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401923"}
subset: ordo_malformation_syndrome {source="Orphanet:401923"}
subset: orphanet_rare {source="Orphanet:401923"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(9)(q31.1q31.3)" EXACT [Orphanet:401923]
synonym: "monosomy 9q31.1q31.3" EXACT [Orphanet:401923]
xref: GARD:21705 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:401923", source="Orphanet:401923/attributed", source="Orphanet:401923/ntbt"}
xref: MEDGEN:1665719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401923 {source="MONDO:equivalentTo"}
xref: UMLS:C4750910 {source="MEDGEN:1665719", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:401923"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:401923"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016908 {source="Orphanet:401923"} ! partial monosomy of the long arm of chromosome 9
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr9q31.1-q31.3 ! 9q31.1-q31.3 (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018429
name: 14q24.1q24.3 microdeletion syndrome
subset: gard_rare {source="GARD:21706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401935"}
subset: ordo_malformation_syndrome {source="Orphanet:401935"}
subset: orphanet_rare {source="Orphanet:401935"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(14)(q24.1q24.3)" EXACT [Orphanet:401935]
synonym: "monosomy 14q24.1q24.3" EXACT [Orphanet:401935]
xref: GARD:21706 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:401935", source="Orphanet:401935/attributed", source="Orphanet:401935/ntbt"}
xref: MEDGEN:1668571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401935 {source="MONDO:equivalentTo"}
xref: UMLS:C4750911 {source="MEDGEN:1668571", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:401935"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016912 {source="Orphanet:401935"} ! partial deletion of the long arm of chromosome 14
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr14q24.1-q24.3 ! 14q24.1-q24.3 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:401935", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018430
name: partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
def: "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." [Orphanet:401959]
subset: gard_rare {source="GARD:21707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:401959"}
subset: ordo_malformation_syndrome {source="Orphanet:401959"}
subset: orphanet_rare {source="Orphanet:401959"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21707 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:401959/attributed", source="Orphanet:401959/ntbt", source="Orphanet:401959"}
xref: MEDGEN:1660429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401959 {source="MONDO:equivalentTo"}
xref: UMLS:C4750913 {source="MEDGEN:1660429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:401959", source="Orphanet:401959/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0018431
name: cold-induced sweating syndrome - hyperthermia spectrum
comment: Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms
subset: disease_grouping
subset: gard_rare {source="GARD:21708", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:401993"}
subset: ordo_inheritance_inconsistent
subset: rare
xref: GARD:21708 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="Orphanet:401993", source="Orphanet:401993/attributed", source="Orphanet:401993/ntbt"}
xref: MEDGEN:1842440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:401993 {source="MONDO:equivalentTo"}
xref: UMLS:C5681139 {source="MEDGEN:1842440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="Orphanet:401993/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! hereditary sensory and autonomic neuropathy
relationship: excluded_subClassOf MONDO:0015366 {source="Orphanet:401993", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal recessive hereditary sensory and autonomic neuropathy

[Term]
id: MONDO:0018432
name: lichen myxedematosus
subset: disease_grouping
subset: gard_rare {source="GARD:21709", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:402007"}
subset: rare
synonym: "lichen myxoedematosus" EXACT [https://www.dermnetnz.org/topics/lichen-myxoedematosus/]
synonym: "lichenoid myxedema" RELATED []
synonym: "papular mucinosis" RELATED [https://www.dermnetnz.org/topics/lichen-myxoedematosus/]
xref: GARD:21709 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:402007", source="Orphanet:402007/ntbt"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:402007 {source="MONDO:equivalentTo"}
xref: SCTID:111197009 {source="MONDO:equivalentTo"}
is_a: MONDO:0002523 {source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! cutaneous mucinosis
is_a: MONDO:0021154 {source="Orphanet:402007"} ! dermis disorder

[Term]
id: MONDO:0018433
name: acute myeloid leukemia with t(6;9)(p23;q34)
def: "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." [Orphanet:402014]
subset: gard_rare {source="GARD:21710", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402014"}
subset: orphanet_rare {source="Orphanet:402014"}
subset: rare
synonym: "AML with t(6;9)(p23;q34)" EXACT [Orphanet:402014]
xref: GARD:21710 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:402014/ntbt", source="Orphanet:402014"}
xref: MEDGEN:1376401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:402014 {source="MONDO:equivalentTo"}
xref: UMLS:C4518837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376401"}
is_a: MONDO:0018874 {source="Orphanet:402014"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018434
name: acute myeloid leukemia with t(9;11)(p22;q23)
subset: gard_rare {source="GARD:21711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402017"}
subset: orphanet_rare {source="Orphanet:402017"}
subset: rare
synonym: "AML with t(9;11)(p22;q23)" EXACT [Orphanet:402017]
xref: GARD:21711 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:402017/ntbt", source="Orphanet:402017"}
xref: MEDGEN:753997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:402017 {source="MONDO:equivalentTo"}
xref: UMLS:C2919692 {source="MEDGEN:753997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="Orphanet:402017"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018435
name: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
def: "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." [Orphanet:402020]
subset: gard_rare {source="GARD:12759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402020"}
subset: orphanet_rare {source="Orphanet:402020"}
subset: rare
synonym: "acute myeloid leukaemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED OMO:0003005 []
synonym: "acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED [Orphanet:402020]
synonym: "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" EXACT [Orphanet:402020]
synonym: "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" EXACT [Orphanet:402020]
xref: GARD:12759 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:402020/ntbt", source="Orphanet:402020"}
xref: MEDGEN:415269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:402020 {source="MONDO:equivalentTo"}
xref: UMLS:C2826172 {source="MEDGEN:415269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="Orphanet:402020"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262" xsd:anyURI {source="GARD:0012759"}

[Term]
id: MONDO:0018436
name: megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
def: "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." [Orphanet:402023]
subset: gard_rare {source="GARD:21712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402023"}
subset: orphanet_rare {source="Orphanet:402023"}
subset: rare
synonym: "megakaryoblastic AML with t(1;22)(p13;q13)" EXACT [Orphanet:402023]
xref: GARD:21712 {source="MONDO:GARD"}
xref: ICD10CM:C94.2 {source="Orphanet:402023/ntbt", source="Orphanet:402023"}
xref: MEDGEN:1638466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:402023 {source="MONDO:equivalentTo"}
xref: SCTID:763796007 {source="MONDO:equivalentTo"}
xref: UMLS:C4706584 {source="MEDGEN:1638466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="Orphanet:402023"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018437
name: acute myeloid leukemia with NPM1 somatic mutations
def: "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." [Orphanet:402026]
subset: gard_rare {source="GARD:21713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402026"}
subset: orphanet_rare {source="Orphanet:402026"}
subset: rare
synonym: "AML with NPM1 somatic mutations" EXACT [Orphanet:402026]
xref: GARD:21713 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:402026", source="Orphanet:402026/ntbt"}
xref: MEDGEN:1633725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:402026 {source="MONDO:equivalentTo"}
xref: SCTID:763309005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633725"}
is_a: MONDO:0018874 {source="Orphanet:402026"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018438
name: eosinophilic gastrointestinal disease
subset: disease_grouping
subset: gard_rare {source="GARD:21714", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:402029"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EGID" EXACT ABBREVIATION [Orphanet:402029]
synonym: "primary eosinophilic gastrointestinal disease" EXACT [PMID:22792476]
xref: GARD:21714 {source="MONDO:GARD"}
xref: ICD10CM:K52.8 {source="Orphanet:402029", source="Orphanet:402029/ntbt"}
xref: MEDGEN:1826142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200454 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200807 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:402029 {source="MONDO:equivalentTo"}
xref: UMLS:C5680014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826142"}
is_a: MONDO:0005020 ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019997"} ! rare

[Term]
id: MONDO:0018439
name: eosinophilic colitis
def: "Inflammation of the colon that is characterized by eosinic infiltration." [NCIT:C27053]
subset: gard_rare {source="GARD:21715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:402035"}
subset: orphanet_rare {source="Orphanet:402035"}
subset: rare
xref: GARD:21715 {source="MONDO:GARD"}
xref: ICD10CM:K52.8 {source="Orphanet:402035/ntbt", source="Orphanet:402035"}
xref: ICD10CM:K52.82 {source="MONDO:equivalentTo"}
xref: ICD9:558.42 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:75633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27053 {source="MONDO:equivalentTo"}
xref: Orphanet:402035 {source="MONDO:equivalentTo"}
xref: SCTID:29120000 {source="MONDO:equivalentTo"}
xref: UMLS:C0267448 {source="MEDGEN:75633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000702 {source="NCIT:C27053"} ! microscopic colitis
is_a: MONDO:0018438 {source="Orphanet:402035"} ! eosinophilic gastrointestinal disease

[Term]
id: MONDO:0018440
name: autosomal recessive distal renal tubular acidosis
def: "Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." [Orphanet:402041]
subset: gard_rare {source="GARD:4666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:402041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR dRTA" EXACT [Orphanet:402041]
synonym: "autosomal recessive distal renal tubular acidosis (disease)" EXACT []
synonym: "autosomal recessive distal RTA" EXACT [Orphanet:402041]
synonym: "distal renal tubular acidosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:4666 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:402041", source="Orphanet:402041/attributed", source="Orphanet:402041/ntbt"}
xref: MEDGEN:351142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:402041 {source="MONDO:equivalentTo"}
xref: UMLS:C1864498 {source="MEDGEN:351142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:402041"} ! distal renal tubular acidosis
intersection_of: MONDO:0015827 ! distal renal tubular acidosis
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0018441
name: obsolete hepatitis delta
is_obsolete: true
replaced_by: MONDO:0005789

[Term]
id: MONDO:0018442
name: acitretin/etretinate embryopathy
def: "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies." [Orphanet:40366]
subset: gard_rare {source="GARD:18827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:40366"}
subset: orphanet_rare {source="Orphanet:40366"}
subset: rare
synonym: "acitretin embryofetopathy" RELATED [GARD:0000468]
synonym: "acitretin embryopathy" RELATED [GARD:0000468]
synonym: "Acitretine embryofetopathy" RELATED [MESH:C538169]
synonym: "fetal acitretin syndrome" RELATED [GARD:0000468]
synonym: "fetal acitretin/etretinate syndrome" EXACT [Orphanet:40366]
synonym: "foetal acitretin syndrome" RELATED OMO:0003005 []
synonym: "foetal acitretin/etretinate syndrome" EXACT OMO:0003005 []
synonym: "retinoid embryopathy" EXACT [Orphanet:40366]
xref: GARD:18827 {source="MONDO:GARD"}
xref: ICD10CM:Q86.8 {source="Orphanet:40366", source="Orphanet:40366/ntbt"}
xref: MEDGEN:1386157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538169 {source="MONDO:equivalentTo"}
xref: Orphanet:40366 {source="MONDO:equivalentTo"}
xref: SCTID:725287006 {source="MONDO:equivalentTo"}
xref: UMLS:C4510941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386157"}
is_a: MONDO:0016677 {source="MESH:C538169", source="Orphanet:40366"} ! toxic or drug-related embryofetopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/468/acitretin-embryopathy" xsd:anyURI {source="GARD:0000468"}

[Term]
id: MONDO:0018443
name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
subset: gard_rare {source="GARD:21717", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404451"}
subset: ordo_malformation_syndrome {source="Orphanet:404451"}
subset: orphanet_rare {source="Orphanet:404451"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21717 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:404451/attributed", source="Orphanet:404451/ntbt", source="Orphanet:404451"}
xref: MEDGEN:1650412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:404451 {source="MONDO:equivalentTo"}
xref: UMLS:C4751506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1650412"}
is_a: MONDO:0015159 {source="Orphanet:404451"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:404451", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018444
name: obsolete female infertility due to fertilization defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility'
subset: ordo_group_of_disorders {source="Orphanet:404469"}
synonym: "female infertility due to fecundation defect" EXACT [Orphanet:404469]
synonym: "rare female infertility due to oocyte maturation" RELATED [Orphanet:404469]
synonym: "rare female infertility due to oocyte maturation defect" RELATED [Orphanet:404469]
xref: GARD:21718 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N97.8 {source="Orphanet:404469", source="Orphanet:404469/attributed", source="Orphanet:404469/ntbt"}
xref: Orphanet:404469 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021124

[Term]
id: MONDO:0018445
name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
subset: gard_rare {source="GARD:17676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404476"}
subset: ordo_malformation_syndrome {source="Orphanet:404476"}
subset: orphanet_rare {source="Orphanet:404476"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumor" EXACT [MONDO:0032647, OMIM:618272]
synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumour" EXACT OMO:0003005 []
synonym: "GLOW" EXACT ABBREVIATION [OMIM:618272]
synonym: "glow syndrome" EXACT [OMIM:618272, Orphanet:404476]
synonym: "GLOW syndrome, somatic mosaic" EXACT [OMIM:618272, OMIM:genemap2]
xref: GARD:17676 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:404476/attributed", source="Orphanet:404476/ntbt", source="Orphanet:404476"}
xref: MEDGEN:1648360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618272 {source="MONDO:equivalentTo"}
xref: Orphanet:404476 {source="MONDO:equivalentTo", source="OMIM:618272"}
xref: UMLS:C4748924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648360"}
is_a: MONDO:0003847 {source="OMIM:618272"} ! hereditary disease
is_a: MONDO:0019716 {source="Orphanet:404476"} ! overgrowth syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4224" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0018446
name: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:21719", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:404481"}
subset: rare
xref: GARD:21719 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:404481", source="Orphanet:404481/attributed", source="Orphanet:404481/ntbt"}
xref: MEDGEN:1843349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:404481 {source="MONDO:equivalentTo"}
xref: UMLS:C5681145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843349"}
is_a: MONDO:0015244 {source="Orphanet:404481"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0015653 {source="Orphanet:404481"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:404481", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018447
name: chondromyxoid fibroma
def: "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." [NCIT:C3830]
subset: gard_rare {source="GARD:21720", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404507"}
subset: orphanet_rare {source="Orphanet:404507"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chondromyxoid fibroma" EXACT [NCIT:C3830]
xref: EFO:0000332 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21720 {source="MONDO:GARD"}
xref: ICD10CM:D16.9 {source="Orphanet:404507", source="Orphanet:404507/ntbt"}
xref: ICDO:9241/0 {source="NCIT:C3830"}
xref: MEDGEN:66375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3830 {source="EFO:0000332", source="MONDO:equivalentTo"}
xref: Orphanet:404507 {source="MONDO:equivalentTo"}
xref: SCTID:39553005 {source="EFO:0000332"}
xref: UMLS:C0221290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66375"}
is_a: MONDO:0000631 {source="MONDO:Redundant", source="NCIT:C3830"} ! bone benign neoplasm
is_a: MONDO:0019060 {source="NCIT:C3830/inferred", source="Orphanet:404507"} ! bone neoplasm
is_a: MONDO:0024470 {source="NCIT:C3830"} ! benign chondrogenic neoplasm

[Term]
id: MONDO:0018448
name: clear cell papillary renal cell carcinoma
def: "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." [Orphanet:404511]
subset: gard_rare {source="GARD:21721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:404511"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:404511"}
subset: rare
xref: GARD:21721 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:404511/ntbt", source="Orphanet:404511"}
xref: MEDGEN:1388623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: ONCOTREE:CCPRC {source="MONDO:equivalentTo"}
xref: Orphanet:404511 {source="MONDO:equivalentTo"}
xref: SCTID:734015000 {source="MONDO:equivalentTo"}
xref: UMLS:C4518333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388623"}
is_a: MONDO:0007763 {source="Orphanet:404511"} ! nonpapillary renal cell carcinoma

[Term]
id: MONDO:0018449
name: acquired cystic disease-associated renal cell carcinoma
def: "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior." [Orphanet:404514]
subset: gard_rare {source="GARD:21722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404514"}
subset: orphanet_rare {source="Orphanet:404514"}
subset: rare
xref: GARD:21722 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:404514/ntbt", source="Orphanet:404514"}
xref: MEDGEN:1644241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C157718 {source="MONDO:equivalentTo"}
xref: Orphanet:404514 {source="MONDO:equivalentTo"}
xref: UMLS:C4707179 {source="MEDGEN:1644241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005086 {source="Orphanet:404514", source="https://orcid.org/0000-0001-5208-3432"} ! renal cell carcinoma

[Term]
id: MONDO:0018450
name: spinal muscular atrophy with respiratory distress type 2
def: "Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene." [Orphanet:404521]
subset: gard_rare {source="GARD:21723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404521"}
subset: orphanet_rare {source="Orphanet:404521"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diaphragmatic spinal muscular atrophy type 2" EXACT [Orphanet:404521]
synonym: "severe infantile axonal neuropathy with respiratory failure type 2" EXACT [Orphanet:404521]
synonym: "SMARD2" EXACT ABBREVIATION [Orphanet:404521]
synonym: "X-linked spinal muscular atrophy with respiratory distress" EXACT [Orphanet:404521]
xref: GARD:21723 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:404521/attributed", source="Orphanet:404521/ntbt", source="Orphanet:404521"}
xref: MEDGEN:1658540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:404521 {source="MONDO:equivalentTo"}
xref: UMLS:C4749434 {source="MEDGEN:1658540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001516 {source="https://orcid.org/0000-0002-4142-7153"} ! spinal muscular atrophy
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018451
name: obsolete X-linked distal hereditary motor neuropathy
def: "OBSOLETE. X-linked form of distal hereditary motor neuropathy." [MONDO:patterns/x_linked]
subset: ordo_group_of_disorders {source="Orphanet:404538"}
subset: otar {source="MONDO:OTAR"}
synonym: "distal hereditary motor neuropathy, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked dHMN" EXACT [Orphanet:404538]
synonym: "X-linked distal spinal muscular atrophy" EXACT [Orphanet:404538]
xref: GARD:21724 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G12.2 {source="Orphanet:404538/attributed", source="Orphanet:404538/ntbt", source="Orphanet:404538"}
xref: Orphanet:404538 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018452
name: obsolete deficiency of the interleukin-36 receptor antagonist
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2829" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013626

[Term]
id: MONDO:0018453
name: familial atypical multiple mole melanoma syndrome
subset: gard_rare {source="GARD:9281", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:404560"}
subset: orphanet_rare {source="Orphanet:404560"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B-K mole syndrome" EXACT [Orphanet:404560]
synonym: "familial atypical mole melanoma syndrome" EXACT [NCIT:C27264]
synonym: "familial atypical mole syndrome" EXACT [Orphanet:404560]
synonym: "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome" EXACT [Orphanet:404560]
synonym: "familial Clark nevus syndrome" EXACT [Orphanet:404560]
synonym: "familial dysplastic nevus syndrome" EXACT [Orphanet:404560]
synonym: "FAMM syndrome" EXACT [NCIT:C27264]
synonym: "FAMM-PC syndrome" EXACT [Orphanet:404560]
synonym: "FAMMM syndrome" EXACT [Orphanet:404560]
synonym: "melanoma-pancreatic cancer syndrome" BROAD [Orphanet:404560]
xref: GARD:9281 {source="MONDO:GARD"}
xref: ICD10CM:D22.9 {source="Orphanet:404560", source="Orphanet:404560/nd", source="Orphanet:404560/attributed"}
xref: MEDGEN:389220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27264 {source="MONDO:equivalentTo"}
xref: Orphanet:404560 {source="MONDO:equivalentTo"}
xref: UMLS:C2314896 {source="MEDGEN:389220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015356 {source="NCIT:C27264", source="Orphanet:404560"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:404560", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0018454
name: obsolete dysostosis of genetic origin
def: "OBSOLETE. An instance of dysostosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:404568"}
synonym: "genetic dysostosis" EXACT [MONDO:patterns/genetic]
xref: GARD:21725 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:404568 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018455
name: obsolete dysostosis of genetic origin with limb anomaly as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:404571"}
xref: GARD:21726 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:404571 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018456
name: polyarticular juvenile idiopathic arthritis
subset: disease_grouping
subset: gard_rare {source="GARD:21729", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:404580"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile polyarthritis" EXACT [Orphanet:404580]
synonym: "juvenile polyarticular arthritis" EXACT [Orphanet:404580]
synonym: "polyarticular JIA" EXACT [Orphanet:404580]
xref: EFO:0009730 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21729 {source="MONDO:GARD"}
xref: MEDGEN:1622195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:404580 {source="MONDO:equivalentTo"}
xref: SCTID:16044751000119106 {source="MONDO:equivalentTo"}
xref: UMLS:C4521004 {source="MEDGEN:1622195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011429 {source="Orphanet:404580"} ! juvenile idiopathic arthritis

[Term]
id: MONDO:0018457
name: obsolete rare genetic bone development disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:404584"}
synonym: "rare genetic skeletal development disorder" EXACT [Orphanet:404584]
xref: GARD:21730 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:404584 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018458
name: familial hypocalciuric hypercalcemia
def: "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." [Orphanet:405]
subset: gard_rare {source="GARD:10828", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:405"}
subset: orphanet_rare {source="Orphanet:405"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial benign hypercalcemia" EXACT [DOID:0060699, Orphanet:405]
synonym: "familial benign hypocalciuric hypercalcemia" EXACT [DOID:0060699, Orphanet:405]
synonym: "FBH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405]
synonym: "FBHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405]
synonym: "FHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405]
synonym: "hypocalciuric hypercalcemia" RELATED [OMIMPS:145980]
xref: DOID:0060699 {source="MONDO:equivalentTo"}
xref: GARD:10828 {source="MONDO:GARD"}
xref: ICD10CM:E83.5 {source="Orphanet:405/attributed", source="Orphanet:405/ntbt", source="Orphanet:405", source="DOID:0060699"}
xref: icd11.foundation:81374726 {source="Orphanet:405", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:369200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123262 {source="MONDO:equivalentTo"}
xref: OMIMPS:145980 {source="DOID:0060699", source="MONDO:equivalentTo"}
xref: Orphanet:405 {source="DOID:0060699", source="MONDO:equivalentTo"}
xref: SCTID:237885008 {source="MONDO:equivalentTo"}
xref: UMLS:C1809471 {source="MEDGEN:369200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001566 {source="DOID:0060699"} ! hypercalcemia disease
is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C123262", source="Orphanet:405/inferred"} ! hereditary disease
is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted", source="MONDO:0019061-obsoleted"} ! endocrine system disorder
is_a: MONDO:0017014 ! interstitial lung disease specific to childhood
relationship: disease_has_feature HP:0004348 {source="Orphanet:405"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:405", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145980"} ! inherited

[Term]
id: MONDO:0018459
name: isolated glycerol kinase deficiency
def: "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD )." [Orphanet:408]
subset: gard_rare {source="GARD:2807", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:408"}
subset: orphanet_rare {source="Orphanet:408"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperglycerolemia" EXACT [Orphanet:408]
synonym: "isolated inborn glycerol kinase deficiency" EXACT []
synonym: "nonsyndromic glycerol kinase deficiency" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic inborn glycerol kinase deficiency" EXACT [MONDO:patterns/isolated]
xref: GARD:2807 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:408", source="Orphanet:408/attributed", source="Orphanet:408/ntbt"}
xref: MESH:C538138 {source="Orphanet:408", source="Orphanet:408/e"}
xref: Orphanet:408 {source="MONDO:equivalentTo"}
is_a: MONDO:0010613 {source="MONDO:Redundant", source="Orphanet:408"} ! inborn glycerol kinase deficiency
intersection_of: MONDO:0010613 ! inborn glycerol kinase deficiency
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo-build/issues/49" xsd:anyURI

[Term]
id: MONDO:0018460
name: Eales disease
def: "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss." [Orphanet:40923]
subset: gard_rare {source="GARD:6309", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1076"}
subset: ordo_disorder {source="Orphanet:40923"}
subset: orphanet_rare {source="Orphanet:40923"}
subset: rare
synonym: "idiopathic obliterative vasculopathy" RELATED [GARD:0006309]
synonym: "idiopathic recurrent vitreal haemorrhage" RELATED OMO:0003005 []
synonym: "idiopathic recurrent vitreal hemorrhage" RELATED [GARD:0006309]
synonym: "idiopathic retinal perivasculitis" EXACT [Orphanet:40923]
synonym: "idiopathic retinal vasculitis" EXACT [Orphanet:40923]
xref: GARD:6309 {source="MONDO:GARD"}
xref: ICD10CM:H35.0 {source="Orphanet:40923/ntbt", source="Orphanet:40923"}
xref: icd11.foundation:945788847 {source="MONDO:equivalentTo", source="Orphanet:40923"}
xref: MedDRA:10057429 {source="Orphanet:40923/e", source="Orphanet:40923"}
xref: MEDGEN:75733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538011 {source="Orphanet:40923/e", source="MONDO:equivalentTo", source="Orphanet:40923"}
xref: NORD:1076 {source="MONDO:NORD"}
xref: Orphanet:40923 {source="MONDO:equivalentTo"}
xref: SCTID:54122009 {source="MONDO:equivalentTo"}
xref: UMLS:C0271073 {source="MEDGEN:75733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
relationship: disease_has_location UBERON:0000966 ! retina
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6309/eales-disease" xsd:anyURI {source="GARD:0006309"}

[Term]
id: MONDO:0018461
name: Angelman syndrome due to a point mutation
subset: gard_rare {source="GARD:21732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:411511"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:411511"}
subset: rare
xref: GARD:21732 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:411511", source="Orphanet:411511/attributed", source="Orphanet:411511/ntbt"}
xref: MEDGEN:1842258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411511 {source="MONDO:equivalentTo"}
xref: UMLS:C5681146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842258"}
is_a: MONDO:0007113 {source="Orphanet:411511"} ! Angelman syndrome
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0018462
name: Angelman syndrome due to imprinting defect in 15q11-q13
subset: gard_rare {source="GARD:21733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:411515"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:411515"}
subset: rare
xref: GARD:21733 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:411515", source="Orphanet:411515/attributed", source="Orphanet:411515/ntbt"}
xref: MEDGEN:1826135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411515 {source="MONDO:equivalentTo"}
xref: UMLS:C5681834 {source="MEDGEN:1826135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007113 {source="Orphanet:411515"} ! Angelman syndrome

[Term]
id: MONDO:0018463
name: mild phosphoribosylpyrophosphate synthetase superactivity
def: "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders." [Orphanet:411536]
subset: gard_rare {source="GARD:17681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:411536"}
subset: rare
synonym: "mild PRPP synthetase superactivity" EXACT [Orphanet:411536]
synonym: "mild PRPS1 superactivity" EXACT [Orphanet:411536]
xref: GARD:17681 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:411536", source="Orphanet:411536/attributed", source="Orphanet:411536/ntbt"}
xref: MEDGEN:1843112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411536 {source="MONDO:equivalentTo"}
xref: UMLS:C5680016 {source="MEDGEN:1843112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010395 {source="Orphanet:411536"} ! phosphoribosylpyrophosphate synthetase superactivity

[Term]
id: MONDO:0018464
name: severe phosphoribosylpyrophosphate synthetase superactivity
def: "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies." [Orphanet:411543]
subset: gard_rare {source="GARD:17682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:411543"}
subset: rare
synonym: "severe PRPP synthetase superactivity" EXACT [Orphanet:411543]
synonym: "severe PRPS1 superactivity" EXACT [Orphanet:411543]
xref: GARD:17682 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:411543/attributed", source="Orphanet:411543/ntbt", source="Orphanet:411543"}
xref: MEDGEN:1843045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411543 {source="MONDO:equivalentTo"}
xref: UMLS:C5680017 {source="MEDGEN:1843045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010395 {source="Orphanet:411543"} ! phosphoribosylpyrophosphate synthetase superactivity

[Term]
id: MONDO:0018465
name: insulin autoimmune syndrome
def: "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood." [https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome]
subset: gard_rare {source="GARD:10808", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411593"}
subset: orphanet_rare {source="Orphanet:411593"}
subset: rare
synonym: "Hirata disease" EXACT [Orphanet:411593]
synonym: "insulin autoimmune hypoglycemia" RELATED [GARD:0010808]
xref: DOID:0040100 {source="MONDO:equivalentTo"}
xref: GARD:10808 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:411593/ntbt", source="Orphanet:411593"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:678528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411593 {source="MONDO:equivalentTo"}
xref: SCTID:408539000 {source="MONDO:equivalentTo"}
xref: UMLS:C0854359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:678528"}
is_a: MONDO:0000569 {source="DOID:0040100"} ! autoimmune disorder of endocrine system
is_a: MONDO:0005803 {source="Orphanet:411593"} ! hyperinsulinemic hypoglycemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome" xsd:anyURI {source="GARD:0010808"}

[Term]
id: MONDO:0018466
name: obsolete hereditary late onset Parkinson disease
comment: These two terms are equivalent: 'late-onset Parkinson disease' is a child of the OMIM phenotypic series 'Parkinson disease', which is an inherited form of the disease, so the class 'late-onset Parkinson disease' inherits the hereditary form.
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3776" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008199

[Term]
id: MONDO:0018467
name: nephropathic infantile cystinosis
def: "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." [Orphanet:411629]
subset: gard_rare {source="GARD:9755", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:411629"}
subset: rare
synonym: "CTNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:219800]
synonym: "cystinosin, defect of" RELATED [OMIM:219800]
synonym: "cystinosis, atypical nephropathic" RELATED [OMIM:219800]
synonym: "cystinosis, infantile nephropathic" EXACT [OMIM:219800]
synonym: "lysosomal cystine transport protein, defect of" RELATED [OMIM:219800]
synonym: "nephropathic infantile cystinosis" EXACT CLINGEN_LABEL []
xref: GARD:9755 {source="MONDO:GARD"}
xref: ICD10EXP:E72.0+ {source="Orphanet:411629", source="Orphanet:411629/attributed", source="Orphanet:411629/ntbt"}
xref: ICD10EXP:N16.3* {source="Orphanet:411629", source="Orphanet:411629/attributed", source="Orphanet:411629/ntbt"}
xref: MEDGEN:760976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200162 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201234 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:213 {source="OMIM:219800"}
xref: Orphanet:411629 {source="OMIM:219800", source="MONDO:equivalentTo"}
xref: UMLS:C3537440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760976"}
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
is_a: MONDO:0100151 {source="NCIT:C129932", source="Orphanet:213/btnt"} ! nephropathic cystinosis
intersection_of: MONDO:0100151 ! nephropathic cystinosis
intersection_of: has_characteristic HP:0003593 ! Infantile onset
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:411629", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="MONDO:mim2gene_medgen"} ! CTNS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0018468
name: proton-pump inhibitor-responsive esophageal eosinophilia
def: "Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy." [Orphanet:411696]
subset: gard_rare {source="GARD:21735", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411696"}
subset: orphanet_rare {source="Orphanet:411696"}
subset: rare
synonym: "PPI-REE" EXACT [Orphanet:411696]
synonym: "PPI-responsive esophageal eosinophilia" EXACT [Orphanet:411696]
synonym: "PPIRee" EXACT [Orphanet:411696]
xref: GARD:21735 {source="MONDO:GARD"}
xref: ICD10CM:K20 {source="Orphanet:411696", source="Orphanet:411696/ntbt"}
xref: MEDGEN:1669432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411696 {source="MONDO:equivalentTo"}
xref: UMLS:C4749332 {source="MEDGEN:1669432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018438 {source="Orphanet:411696"} ! eosinophilic gastrointestinal disease

[Term]
id: MONDO:0018469
name: pulmonary non-tuberculous mycobacterial infection
subset: gard_rare {source="GARD:12829", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1887"}
subset: ordo_disorder {source="Orphanet:411703"}
subset: orphanet_rare {source="Orphanet:411703"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-tuberculous mycobacterial lung disease" EXACT [Orphanet:411703]
synonym: "Nontuberculous Mycobacterial Lung Disease" EXACT [NORD:1887]
synonym: "nontuberculous mycobacterial lung disease" RELATED [GARD:0012829]
xref: GARD:12829 {source="MONDO:GARD"}
xref: ICD10CM:A31.0 {source="Orphanet:411703", source="Orphanet:411703/e"}
xref: icd11.foundation:1798822437 {source="MONDO:equivalentTo", source="Orphanet:411703", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:758704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1887 {source="MONDO:NORD"}
xref: Orphanet:411703 {source="MONDO:equivalentTo"}
xref: UMLS:C3472679 {source="MONDO:equivalentTo", source="MEDGEN:758704", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:411703"} ! respiratory system disorder
is_a: MONDO:0005113 {source="MONDO:Redundant", source="Orphanet:411703"} ! bacterial infectious disease
relationship: disease_has_infectious_agent NCBITaxon:1763 ! Mycobacterium
relationship: disease_has_location UBERON:0002048 ! lung
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0018470
name: renal agenesis
def: "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)." [Orphanet:411709]
subset: gard_rare {source="GARD:9228", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411709"}
subset: ordo_morphological_anomaly {source="Orphanet:411709"}
subset: orphanet_rare {source="Orphanet:411709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "absent/small kidney" EXACT [HP:0008678]
synonym: "absent/underdeveloped kidney" EXACT [HP:0008678]
synonym: "hereditary renal aplasia" EXACT [DOID:14766]
synonym: "hereditary urogenital adysplasia" EXACT [DOID:14766]
synonym: "renal adysplasia" EXACT [DOID:14766]
synonym: "renal agenesis" EXACT [MONDO:ambiguous]
synonym: "renal agenesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "renal agenesis/hypoplasia" EXACT [HP:0008678]
synonym: "renal aplasia" EXACT [DOID:14766]
synonym: "renal hypodysplasia/aplasia" RELATED [OMIMPS:191830]
xref: DOID:14766 {source="MONDO:equivalentTo"}
xref: GARD:9228 {source="MONDO:GARD"}
xref: HP:0000104 {source="MONDO:otherHierarchy"}
xref: HP:0008678 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q60.0 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="Orphanet:411709"}
xref: ICD10CM:Q60.1 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="Orphanet:411709"}
xref: ICD10CM:Q60.2 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="Orphanet:411709"}
xref: icd11.foundation:683319223 {source="MONDO:equivalentTo", source="Orphanet:411709"}
xref: MEDGEN:154237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200156 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99041 {source="MONDO:equivalentTo"}
xref: OMIMPS:191830 {source="MONDO:equivalentTo"}
xref: Orphanet:411709 {source="OMIM:191830", source="MONDO:equivalentTo"}
xref: SCTID:204942005 {source="MONDO:equivalentTo"}
xref: UMLS:C0542519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154237"}
is_a: MONDO:0005240 {source="DOID:14766", source="MONDO:Redundant", source="Orphanet:411709", source="Orphanet:411709/inferred"} ! kidney disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:411709", source="Orphanet:411709/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:191830"} ! inherited
property_value: IAO:0000589 "renal agenesis (disease)" xsd:string

[Term]
id: MONDO:0018471
name: generalized eruptive keratoacanthoma
def: "Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug." [Orphanet:411777]
subset: gard_rare {source="GARD:21736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411777"}
subset: orphanet_rare {source="Orphanet:411777"}
subset: rare
synonym: "GEKA" EXACT ABBREVIATION [Orphanet:411777]
synonym: "generalised eruptive keratoacanthomas of Grzybowski" EXACT OMO:0003005 []
synonym: "generalized eruptive keratoacanthomas of Grzybowski" EXACT [Orphanet:411777]
synonym: "Grzybowski syndrome" EXACT [Orphanet:411777]
xref: GARD:21736 {source="MONDO:GARD"}
xref: ICD10CM:L85.8 {source="Orphanet:411777/ntbt", source="Orphanet:411777"}
xref: MEDGEN:577226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411777 {source="MONDO:equivalentTo"}
xref: SCTID:254664008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345985 {source="MONDO:equivalentTo", source="MEDGEN:577226", source="MONDO:MEDGEN"}
is_a: MONDO:0002527 {source="https://orcid.org/0000-0001-5208-3432"} ! keratoacanthoma
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:411777", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0018472
name: familial isolated trichomegaly
def: "Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated." [Orphanet:411788]
subset: gard_rare {source="GARD:13167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:411788"}
subset: orphanet_rare {source="Orphanet:411788"}
subset: rare
xref: DOID:0111566 {source="MONDO:equivalentTo"}
xref: GARD:13167 {source="MONDO:GARD"}
xref: MEDGEN:1639703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:411788 {source="MONDO:equivalentTo"}
xref: SCTID:764523004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639703"}
is_a: MONDO:0008593 {source="https://orcid.org/0000-0001-5208-3432"} ! trichomegaly

[Term]
id: MONDO:0018473
name: hyperlipoproteinemia type 3
def: "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." [Orphanet:412]
subset: gard_rare {source="GARD:6703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412"}
subset: orphanet_rare {source="Orphanet:412"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "apolipoprotein E, deficiency or defect of" RELATED [OMIM:617347]
synonym: "Broad beta disease" RELATED [GARD:0006703]
synonym: "Broad-betalipoproteinemia" EXACT [Orphanet:412]
synonym: "carbohydrate induced hyperlipemia" EXACT [DOID:3145]
synonym: "coronary artery disease, Severe, Susceptibility to" RELATED [OMIM:617347]
synonym: "dysbetalipoproteinemia" RELATED [GARD:0006703]
synonym: "dysbetalipoproteinemia due to defect in apolipoprotein E-D" RELATED [OMIM:617347]
synonym: "dyslipidaemia type 3" EXACT OMO:0003005 []
synonym: "dyslipidemia type 3" EXACT [Orphanet:412]
synonym: "familial dysbetalipoproteinemia" EXACT [Orphanet:412]
synonym: "familial Hyperbeta- and Prebetalipoproteinemia" RELATED [OMIM:617347]
synonym: "familial hypercholesterolaemia with hyperlipaemia" RELATED [DOID:3145]
synonym: "familial hypercholesterolemia with hyperlipemia" RELATED [OMIM:617347]
synonym: "familial hyperlipoproteinemia type 3" EXACT [Orphanet:412]
synonym: "familial type 3 hyperlipoproteinemia" EXACT [DOID:3145]
synonym: "floating-betalipoproteinemia" RELATED [OMIM:617347]
synonym: "HLP type 3" EXACT [Orphanet:412]
synonym: "hyperlipemia with Familial Hypercholesterolemic xanthomatosis" RELATED [OMIM:617347]
synonym: "hyperlipidemia type 3" EXACT [Orphanet:412]
synonym: "hyperlipoproteinemia type III" EXACT [MONDO:0002524]
synonym: "hyperlipoproteinemia, type III" RELATED [OMIM:617347]
synonym: "low density lipoprotein cholesterol level quantitative trait locus 5" RELATED [OMIM:617347]
synonym: "remnant disease" EXACT [Orphanet:412]
synonym: "remnant hyperlipidemia" EXACT [DOID:3145, NCIT:C34710]
synonym: "remnant removal disease" RELATED [GARD:0006703]
xref: DOID:3145 {source="MONDO:equivalentTo"}
xref: GARD:6703 {source="MONDO:GARD"}
xref: ICD10CM:E78.2 {source="Orphanet:412", source="Orphanet:412/ntbt", source="Orphanet:412/inclusion"}
xref: MedDRA:10060751 {source="Orphanet:412", source="Orphanet:412/e"}
xref: MEDGEN:9364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006952 {source="Orphanet:412", source="DOID:3145", source="Orphanet:412/e"}
xref: NCIT:C34710 {source="DOID:3145", source="MONDO:otherHierarchy"}
xref: OMIM:617347 {source="Orphanet:412", source="MONDO:equivalentTo"}
xref: Orphanet:412 {source="OMIM:617347", source="MONDO:equivalentTo"}
xref: SCTID:398796005 {source="DOID:3145", source="MONDO:equivalentTo"}
xref: SCTID:42569002 {source="DOID:3145"}
xref: UMLS:C0020479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9364"}
is_a: MONDO:0001336 {source="DOID:3145", source="MONDO:Redundant", source="Orphanet:412"} ! familial hyperlipidemia

[Term]
id: MONDO:0018474
name: 13q12.3 microdeletion syndrome
def: "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain." [Orphanet:412035]
subset: gard_rare {source="GARD:21737", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412035"}
subset: ordo_malformation_syndrome {source="Orphanet:412035"}
subset: orphanet_rare {source="Orphanet:412035"}
subset: rare
synonym: "Del(13)(q12.3)" EXACT [Orphanet:412035]
synonym: "monosomy 13q12.3" EXACT [Orphanet:412035]
xref: GARD:21737 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:412035/attributed", source="Orphanet:412035/ntbt", source="Orphanet:412035"}
xref: MEDGEN:1657124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:412035 {source="MONDO:equivalentTo"}
xref: UMLS:C4750951 {source="MEDGEN:1657124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:412035"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016911 {source="Orphanet:412035"} ! partial deletion of the long arm of chromosome 13
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr13q12.3 ! 13q12.3 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:412035", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018475
name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
subset: gard_rare {source="GARD:21738", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412066"}
subset: orphanet_rare {source="Orphanet:412066"}
subset: rare
xref: GARD:21738 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:412066/attributed", source="Orphanet:412066/ntbt", source="Orphanet:412066"}
xref: MEDGEN:1654800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:412066 {source="MONDO:equivalentTo"}
xref: UMLS:C4751505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1654800"}
is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:412066", source="Orphanet:412066/inferred"} ! hereditary dementia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:412066", source="Orphanet:412066/inferred"} ! inherited neurodegenerative disorder

[Term]
id: MONDO:0018476
name: dystonia-aphonia syndrome
subset: gard_rare {source="GARD:21739", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:412217"}
subset: orphanet_rare {source="Orphanet:412217"}
subset: rare
xref: GARD:21739 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="Orphanet:412217/attributed", source="Orphanet:412217/ntbt", source="Orphanet:412217"}
xref: MEDGEN:1675660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:412217 {source="MONDO:equivalentTo"}
xref: UMLS:C5190573 {source="MONDO:equivalentTo", source="MEDGEN:1675660", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0020065 {source="https://orcid.org/0000-0002-4142-7153"} ! combined dystonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0018477
name: bilirubin encephalopathy
subset: gard_rare {source="GARD:6830", source="MONDO:GARD"}
subset: ordo_clinical_syndrome {source="Orphanet:415286"}
subset: ordo_group_of_disorders {source="Orphanet:415286"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilirubin encephalopathy" EXACT [DOID:2382]
synonym: "hyperbilirubinemic encephalopathy" RELATED [GARD:0006830]
synonym: "kernicterus" EXACT [Orphanet:415286]
synonym: "kernicterus spectrum disorder" RELATED [Orphanet:415286]
xref: DOID:2382 {source="EFO:1001002", source="MONDO:equivalentTo"}
xref: GARD:6830 {source="MONDO:GARD"}
xref: ICD10CM:P57 {source="EFO:1001002", source="DOID:2382"}
xref: ICD10CM:P57.9 {source="Orphanet:415286/ntbt", source="Orphanet:415286", source="DOID:2382"}
xref: MedDRA:10023376 {source="EFO:1001002"}
xref: MEDGEN:44018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007647 {source="EFO:1001002", source="MONDO:equivalentTo", source="DOID:2382"}
xref: NCIT:C84799 {source="EFO:1001002", source="MONDO:equivalentTo", source="DOID:2382"}
xref: Orphanet:415286 {source="MONDO:equivalentTo"}
xref: SCTID:157135006 {source="DOID:2382"}
xref: SCTID:206479002 {source="DOID:2382"}
xref: SCTID:230770008 {source="DOID:2382"}
xref: SCTID:268880009 {source="DOID:2382"}
xref: SCTID:50143004 {source="MONDO:equivalentTo", source="DOID:2382"}
xref: SCTID:74925009 {source="EFO:1001002", source="DOID:2382"}
xref: UMLS:C0022610 {source="MEDGEN:44018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:2382", source="EFO:1001002", source="MESH:D007647/inferred"} ! brain disorder
is_a: MONDO:0017755 {source="Orphanet:415286"} ! inborn disorder of bilirubin metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3604" xsd:anyURI

[Term]
id: MONDO:0018478
name: obsolete primary hyperoxaluria
is_obsolete: true
replaced_by: MONDO:0002474

[Term]
id: MONDO:0018479
name: congenital adrenal hyperplasia
def: "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease." [Orphanet:418]
subset: disease_grouping
subset: gard_rare {source="GARD:1467", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:992"}
subset: ordo_group_of_disorders {source="Orphanet:418"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal hyperplasia" BROAD [NCIT:C34360]
synonym: "adrenal hyperplasia, congenital" EXACT [NCIT:C34360]
synonym: "adrenogenital disorder" BROAD [NCIT:C34360]
synonym: "adrenogenital syndrome" BROAD [NCIT:C34360]
synonym: "CAH" EXACT ABBREVIATION [Orphanet:418]
synonym: "congenital adrenal gland hyperplasia" EXACT [NCIT:C34360]
synonym: "congenital lipoid adrenal hyperplasia" RELATED [DOID:0050811]
synonym: "lipoid CAH" RELATED [DOID:0050811]
xref: DOID:0050811 {source="MONDO:equivalentTo"}
xref: GARD:1467 {source="MONDO:GARD"}
xref: ICD10CM:E25 {source="DOID:0050811"}
xref: ICD10CM:E25.0 {source="Orphanet:418", source="Orphanet:418/specific", source="Orphanet:418/e"}
xref: ICD10CM:E25.9 {source="DOID:0050811"}
xref: icd11.foundation:172733763 {source="MONDO:equivalentTo", source="Orphanet:418"}
xref: ICD9:255.2 {source="DOID:0050811"}
xref: MedDRA:10010323 {source="Orphanet:418", source="Orphanet:418/e"}
xref: MEDGEN:7900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000312 {source="MONDO:equivalentTo", source="Orphanet:418", source="Orphanet:418/e"}
xref: NANDO:1200396 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200397 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100134 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200370 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34360 {source="MONDO:equivalentTo"}
xref: NORD:992 {source="MONDO:NORD"}
xref: Orphanet:418 {source="MONDO:equivalentTo", source="DOID:0050811"}
xref: SCTID:154706003 {source="DOID:0050811"}
xref: SCTID:190510000 {source="DOID:0050811"}
xref: SCTID:190519004 {source="DOID:0050811"}
xref: SCTID:237751000 {source="MONDO:equivalentTo"}
xref: SCTID:267395000 {source="DOID:0050811"}
xref: UMLS:C0001627 {source="MEDGEN:7900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder
is_a: MONDO:0005523 {source="DOID:0050811", source="MESH:D000312"} ! steroid inherited metabolic disorder
is_a: MONDO:0015129 {source="Orphanet:418", source="Orphanet:418/inferred"} ! chronic primary adrenal insufficiency
is_a: MONDO:0015514 {source="Orphanet:418"} ! hereditary endocrine growth disease
is_a: MONDO:0015898 {source="MESH:D000312", source="Orphanet:418"} ! adrenogenital syndrome

[Term]
id: MONDO:0018480
name: carcinoma of esophagus, salivary gland type
subset: gard_rare {source="GARD:21741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:418945"}
subset: orphanet_rare {source="Orphanet:418945"}
subset: rare
synonym: "esophageal carcinoma, salivary gland type" EXACT [Orphanet:418945]
xref: GARD:21741 {source="MONDO:GARD"}
xref: ICD10CM:C15.3 {source="Orphanet:418945", source="Orphanet:418945/nd"}
xref: ICD10CM:C15.4 {source="Orphanet:418945", source="Orphanet:418945/nd"}
xref: ICD10CM:C15.5 {source="Orphanet:418945", source="Orphanet:418945/nd"}
xref: ICD10CM:C15.8 {source="Orphanet:418945", source="Orphanet:418945/nd"}
xref: MEDGEN:1678006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:418945 {source="MONDO:equivalentTo"}
xref: UMLS:C5190854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678006"}
is_a: MONDO:0019086 {source="Orphanet:418945"} ! carcinoma of esophagus

[Term]
id: MONDO:0018481
name: undifferentiated carcinoma of esophagus
def: "An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation." [NCIT:P378]
subset: gard_rare {source="GARD:21742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:418951"}
subset: orphanet_rare {source="Orphanet:418951"}
subset: rare
synonym: "esophageal undifferentiated carcinoma" EXACT [NCIT:C27422]
synonym: "esophagus undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "oesophagus undifferentiated carcinoma" EXACT OMO:0003005 []
synonym: "undifferentiated esophageal cancer" EXACT [NCIT:C27422]
synonym: "undifferentiated esophageal carcinoma" EXACT [Orphanet:418951]
xref: GARD:21742 {source="MONDO:GARD"}
xref: ICD10CM:C15.3 {source="Orphanet:418951/nd", source="Orphanet:418951"}
xref: ICD10CM:C15.4 {source="Orphanet:418951/nd", source="Orphanet:418951"}
xref: ICD10CM:C15.5 {source="Orphanet:418951/nd", source="Orphanet:418951"}
xref: ICD10CM:C15.8 {source="Orphanet:418951/nd", source="Orphanet:418951"}
xref: MEDGEN:412163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27422 {source="MONDO:equivalentTo"}
xref: Orphanet:418951 {source="MONDO:equivalentTo"}
xref: UMLS:C2188058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412163"}
is_a: MONDO:0005580 {source="NCIT:C27422"} ! esophageal squamous cell carcinoma
is_a: MONDO:0005617 {source="MONDO:Redundant", source="NCIT:C27422"} ! undifferentiated carcinoma
is_a: MONDO:0019086 {source="MONDO:Redundant", source="NCIT:C27422/inferred", source="Orphanet:418951"} ! carcinoma of esophagus
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0018482
name: obsolete squamous cell carcinoma of stomach
is_obsolete: true
replaced_by: MONDO:0006230

[Term]
id: MONDO:0018483
name: secondary pulmonary alveolar proteinosis
def: "A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency." [PMID:19465834]
comment: Editor note: TODO DP for secondary diseases
subset: gard_rare {source="GARD:21744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420259"}
subset: orphanet_rare {source="Orphanet:420259"}
subset: rare
synonym: "secondary PAP" EXACT [Orphanet:420259]
synonym: "SPAP" EXACT ABBREVIATION [PMID:19465834]
xref: GARD:21744 {source="MONDO:GARD"}
xref: ICD10CM:J84.0 {source="Orphanet:420259", source="Orphanet:420259/ntbt"}
xref: MEDGEN:845105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200749 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:420259 {source="MONDO:equivalentTo"}
xref: SCTID:707510005 {source="MONDO:equivalentTo"}
xref: UMLS:C3873302 {source="MEDGEN:845105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001437 {source="https://orcid.org/0000-0002-6601-2165"} ! pulmonary alveolar proteinosis

[Term]
id: MONDO:0018484
name: semicircular canal dehiscence syndrome
def: "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms." [Orphanet:420402]
subset: gard_rare {source="GARD:21745", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1891"}
subset: ordo_clinical_syndrome {source="Orphanet:420402"}
subset: ordo_disorder {source="Orphanet:420402"}
subset: orphanet_rare {source="Orphanet:420402"}
subset: rare
synonym: "canal dehiscence syndrome" EXACT [DOID:0080193]
synonym: "Minor's syndrome" EXACT [DOID:0080193]
synonym: "Minorbs syndrome" EXACT [DOID:0080193]
synonym: "SCD syndrome" EXACT [Orphanet:420402]
synonym: "superior canal dehiscence" EXACT [DOID:0080193]
synonym: "superior canal syndrome" EXACT [DOID:0080193]
synonym: "Superior Semicircular Canal Dehiscence" EXACT [NORD:1891]
synonym: "superior semicircular canal dehiscence" RELATED [DOID:0080193]
synonym: "superior semicircular canal dehiscence syndrome" EXACT [DOID:0080193]
synonym: "third mobile window syndrome" EXACT [DOID:0080193]
xref: DOID:0080193 {source="MONDO:equivalentTo"}
xref: GARD:21745 {source="MONDO:GARD"}
xref: ICD10CM:H83.8 {source="Orphanet:420402", source="Orphanet:420402/ntbt", source="DOID:0080193"}
xref: MEDGEN:1642474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1891 {source="MONDO:NORD"}
xref: Orphanet:420402 {source="MONDO:equivalentTo"}
xref: SCTID:717799003 {source="MONDO:equivalentTo"}
xref: UMLS:C4708600 {source="MEDGEN:1642474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024623 {source="Orphanet:420402"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare

[Term]
id: MONDO:0018485
name: glycogen storage disease due to acid maltase deficiency, late-onset
def: "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." [Orphanet:420429]
subset: gard_rare {source="GARD:21746", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:420429"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha-1,4-glucosidase acid deficiency, late onset" EXACT [Orphanet:420429]
synonym: "Alpha-1,4-glucosidase acid deficiency, late-onset" EXACT [Orphanet:420429]
synonym: "glycogen storage disease type 2, late onset" EXACT [Orphanet:420429]
synonym: "glycogen storage disease type 2, late-onset" EXACT [Orphanet:420429]
synonym: "glycogen storage disease type II, late onset" EXACT [Orphanet:420429]
synonym: "glycogen storage disease type II, late-onset" EXACT [Orphanet:420429]
synonym: "glycogenosis type 2, late onset" EXACT [Orphanet:420429]
synonym: "glycogenosis type 2, late-onset" EXACT [Orphanet:420429]
synonym: "glycogenosis type II, late onset" EXACT [Orphanet:420429]
synonym: "glycogenosis type II, late-onset" EXACT [Orphanet:420429]
synonym: "GSD due to acid maltase deficiency, late onset" EXACT [Orphanet:420429]
synonym: "GSD due to acid maltase deficiency, late-onset" EXACT [Orphanet:420429]
synonym: "GSD type 2, late onset" EXACT [Orphanet:420429]
synonym: "GSD type 2, late-onset" EXACT [Orphanet:420429]
synonym: "GSD type II, late onset" EXACT [Orphanet:420429]
synonym: "GSD type II, late-onset" EXACT [Orphanet:420429]
synonym: "Pompe disease, late onset" EXACT [Orphanet:420429]
synonym: "Pompe disease, late-onset" EXACT [Orphanet:420429]
xref: GARD:21746 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:420429", source="Orphanet:420429/attributed", source="Orphanet:420429/ntbt"}
xref: MEDGEN:575206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:420429 {source="MONDO:equivalentTo"}
xref: SCTID:722343009 {source="MONDO:equivalentTo"}
xref: UMLS:C0342753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575206"}
is_a: MONDO:0009290 {source="Orphanet:420429"} ! glycogen storage disease II

[Term]
id: MONDO:0018486
name: visual snow syndrome
def: "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow." [https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome]
subset: gard_rare {source="GARD:12062", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1929"}
subset: ordo_disorder {source="Orphanet:420556"}
subset: orphanet_rare {source="Orphanet:420556"}
subset: rare
synonym: "visual snow" RELATED [GARD:0012062]
xref: GARD:12062 {source="MONDO:GARD"}
xref: ICD10CM:H53.8 {source="Orphanet:420556", source="Orphanet:420556/ntbt"}
xref: MEDGEN:1661883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1929 {source="MONDO:NORD"}
xref: Orphanet:420556 {source="MONDO:equivalentTo"}
xref: UMLS:C4324662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1661883"}
is_a: MONDO:0005328 ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome" xsd:anyURI {source="GARD:0012062"}

[Term]
id: MONDO:0018487
name: autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
subset: gard_rare {source="GARD:21747", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420699"}
subset: orphanet_rare {source="Orphanet:420699"}
subset: rare
xref: GARD:21747 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:420699", source="Orphanet:420699/attributed", source="Orphanet:420699/ntbt"}
xref: MEDGEN:1682018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:420699 {source="MONDO:equivalentTo"}
xref: UMLS:C5190862 {source="MEDGEN:1682018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018542 {source="Orphanet:420699", source="Orphanet:420699/inferred"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6027 ! CXCR2
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0018488
name: obsolete rare genetic odontal or periodontal disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:420755"}
xref: GARD:21748 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:420755 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018489
name: autoimmune encephalopathy with parasomnia and obstructive sleep apnea
def: "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported." [Orphanet:420789]
subset: gard_rare {source="GARD:21749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420789"}
subset: orphanet_rare {source="Orphanet:420789"}
subset: rare
synonym: "anti-IgLON5 disease" EXACT [Orphanet:420789]
synonym: "anti-IgLON5 syndrome" EXACT [Orphanet:420789]
xref: GARD:21749 {source="MONDO:GARD"}
xref: ICD10CM:G04.8 {source="Orphanet:420789", source="Orphanet:420789/ntbt"}
xref: MEDGEN:1644256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:420789 {source="MONDO:equivalentTo"}
xref: SCTID:765751002 {source="MONDO:equivalentTo"}
xref: UMLS:C4707562 {source="MEDGEN:1644256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="Orphanet:420789"} ! sleep-wake disorder
intersection_of: MONDO:0005560 ! brain disorder
intersection_of: disease_arises_from_feature HP:0002870 ! Obstructive sleep apnea
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
intersection_of: disease_arises_from_feature HP:0025234 ! Parasomnia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare

[Term]
id: MONDO:0018490
name: cono-spondylar dysplasia
def: "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." [Orphanet:420794]
subset: gard_rare {source="GARD:21750", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:420794"}
subset: ordo_malformation_syndrome {source="Orphanet:420794"}
subset: orphanet_rare {source="Orphanet:420794"}
subset: rare
synonym: "short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome" EXACT [Orphanet:420794]
xref: GARD:21750 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:420794/attributed", source="Orphanet:420794/ntbt", source="Orphanet:420794"}
xref: MEDGEN:1638945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:420794 {source="MONDO:equivalentTo"}
xref: SCTID:766874001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638945"}
is_a: MONDO:0015159 {source="Orphanet:420794"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016761 {source="Orphanet:420794"} ! spondyloepiphyseal dysplasia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:420794", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018491
name: 3-phosphoglycerate dehydrogenase deficiency
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:663158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:422519 {source="MONDO:equivalentObsolete"}
xref: SCTID:303098002 {source="MONDO:equivalentTo"}
xref: UMLS:C0580190 {source="MONDO:equivalentTo", source="MEDGEN:663158", source="MONDO:MEDGEN"}
is_a: MONDO:0018162 {source="Orphanet:422519"} ! neurometabolic disorder due to serine deficiency

[Term]
id: MONDO:0018492
name: hereditary clear cell renal cell carcinoma
def: "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common." [NCIT:P378]
subset: gard_rare {source="GARD:9571", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:422526"}
subset: orphanet_rare {source="Orphanet:422526"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary clear cell renal carcinoma" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary clear cell renal cell adenocarcinoma" EXACT [Orphanet:422526]
synonym: "Hereditary clear cell renal cell cancer" EXACT [NCIT:C36260]
synonym: "hereditary clear cell renal cell carcinoma" EXACT [NCIT:C36260]
synonym: "hereditary conventional (clear cell) renal cell carcinoma" EXACT [NCIT:C36260]
synonym: "hereditary conventional renal cell carcinoma" RELATED [DOID:7192]
xref: DOID:7192 {source="MONDO:equivalentTo"}
xref: GARD:9571 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:422526", source="Orphanet:422526/attributed", source="Orphanet:422526/ntbt"}
xref: MEDGEN:234343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36260 {source="MONDO:equivalentTo", source="DOID:7192", source="MONDO:exact-label-match"}
xref: Orphanet:422526 {source="MONDO:equivalentTo"}
xref: SCTID:764961009 {source="MONDO:equivalentTo"}
xref: UMLS:C1333985 {source="MEDGEN:234343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003008 {source="DOID:7192", source="MONDO:Redundant", source="NCIT:C36260"} ! hereditary renal cell carcinoma
is_a: MONDO:0005005 {source="MONDO:Redundant", source="NCIT:C36260"} ! clear cell renal carcinoma
intersection_of: MONDO:0005005 ! clear cell renal carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0018493
name: malignant hyperthermia of anesthesia
def: "A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." [https://orcid.org/0000-0001-5208-3432, Orphanet:423]
subset: gard_rare {source="GARD:6964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423"}
subset: orphanet_rare {source="Orphanet:423"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaesthesia related hyperthermia" EXACT OMO:0003005 []
synonym: "anesthesia related hyperthermia" EXACT [DOID:8545]
synonym: "hyperthermia of anaesthesia" EXACT OMO:0003005 []
synonym: "hyperthermia of anesthesia" EXACT [Orphanet:423]
synonym: "malignant hyperpyrexia" EXACT [NCIT:C84869]
synonym: "malignant hyperpyrexia due to anaesthesia" EXACT OMO:0003005 []
synonym: "malignant hyperpyrexia due to anesthesia" EXACT [DOID:8545]
synonym: "malignant hyperthermia" EXACT [MONDO:ambiguous]
synonym: "malignant hyperthermia of anesthesia" EXACT CLINGEN_LABEL []
synonym: "malignant hyperthermia syndrome" EXACT [NCIT:C84869]
xref: DOID:8545 {source="MONDO:equivalentTo"}
xref: GARD:6964 {source="MONDO:GARD"}
xref: HP:0002047 {source="MONDO:otherHierarchy"}
xref: ICD10CM:T88.3 {source="DOID:8545", source="Orphanet:423", source="Orphanet:423/e", source="Orphanet:423/specific"}
xref: ICD9:995.86 {source="DOID:8545"}
xref: MedDRA:10020844 {source="Orphanet:423", source="Orphanet:423/e"}
xref: MEDGEN:9867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008305 {source="DOID:8545", source="Orphanet:423", source="MONDO:equivalentTo", source="Orphanet:423/e"}
xref: NCIT:C84869 {source="DOID:8545", source="MONDO:equivalentTo"}
xref: OMIMPS:145600 {source="MONDO:relatedTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:423 {source="DOID:8545", source="MONDO:equivalentTo"}
xref: SCTID:111738008 {source="DOID:8545"}
xref: SCTID:157762007 {source="DOID:8545"}
xref: SCTID:213026003 {source="DOID:8545"}
xref: SCTID:248453001 {source="DOID:8545"}
xref: SCTID:269435009 {source="DOID:8545"}
xref: SCTID:405500008 {source="DOID:8545"}
xref: SCTID:405501007 {source="DOID:8545", source="MONDO:equivalentTo"}
xref: UMLS:C0024591 {source="MEDGEN:9867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder
is_a: MONDO:0019119 {source="Orphanet:423"} ! muscular channelopathy
relationship: disease_has_major_feature HP:0002047 ! Malignant hyperthermia
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C84869", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145600"} ! inherited

[Term]
id: MONDO:0018494
name: microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
def: "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." [Orphanet:423306]
subset: gard_rare {source="GARD:21751", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423306"}
subset: ordo_malformation_syndrome {source="Orphanet:423306"}
subset: orphanet_rare {source="Orphanet:423306"}
subset: rare
xref: GARD:21751 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:423306", source="Orphanet:423306/attributed", source="Orphanet:423306/ntbt"}
xref: MEDGEN:1659920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:423306 {source="MONDO:equivalentTo"}
xref: UMLS:C4749647 {source="MEDGEN:1659920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:423306"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0018495
name: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
def: "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." [Orphanet:423479]
subset: gard_rare {source="GARD:21752", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423479"}
subset: orphanet_rare {source="Orphanet:423479"}
subset: rare
xref: GARD:21752 {source="MONDO:GARD"}
xref: ICD10CM:E79.8 {source="Orphanet:423479", source="Orphanet:423479/attributed", source="Orphanet:423479/ntbt"}
xref: MEDGEN:1374000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:423479 {source="MONDO:equivalentTo"}
xref: UMLS:C4517296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1374000"}
is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:423479"} ! inherited retinal dystrophy
is_a: MONDO:0019236 {source="Orphanet:423479"} ! inborn disorder of purine metabolism

[Term]
id: MONDO:0018496
name: obsolete ARX-related encephalopathy-brain malformation spectrum
subset: ordo_group_of_disorders {source="Orphanet:423655"}
xref: GARD:21753 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:423655 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015620 {source="Orphanet:423655", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic urogenital tract malformation
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:423655", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:423655", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0021147 {source="MONDO:0017122-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018497
name: obsolete rare autonomic nervous system disorder
def: "OBSOLETE. Rare autonomic nervous system disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:423662"}
synonym: "rare autonomic nervous system disease" EXACT [MONDO:patterns/rare]
xref: GARD:21754 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:423662 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001292

[Term]
id: MONDO:0018498
name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect
subset: gard_rare {source="GARD:21755", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:423693"}
subset: rare
synonym: "DORV with subaortic or doubly committed VSD" EXACT [Orphanet:423693]
xref: GARD:21755 {source="MONDO:GARD"}
xref: ICD10CM:Q20.1 {source="Orphanet:423693/attributed", source="Orphanet:423693/ntbt", source="Orphanet:423693"}
xref: MEDGEN:1843284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:423693 {source="MONDO:equivalentTo"}
xref: UMLS:C5680070 {source="MEDGEN:1843284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018089 {source="Orphanet:423693"} ! double outlet right ventricle

[Term]
id: MONDO:0018499
name: double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
subset: gard_rare {source="GARD:21756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:423712"}
subset: rare
synonym: "DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy" EXACT [Orphanet:423712]
xref: GARD:21756 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:423712/attributed", source="Orphanet:423712/ntbt", source="Orphanet:423712"}
xref: MEDGEN:1842277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:423712 {source="MONDO:equivalentTo"}
xref: UMLS:C5680071 {source="MONDO:equivalentTo", source="MEDGEN:1842277", source="MONDO:MEDGEN"}
is_a: MONDO:0018089 {source="Orphanet:423712"} ! double outlet right ventricle

[Term]
id: MONDO:0018500
name: cutaneous larva migrans
def: "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances." [Orphanet:423717]
subset: gard_rare {source="GARD:1629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423717"}
subset: orphanet_rare {source="Orphanet:423717"}
subset: rare
synonym: "CLM" RELATED ABBREVIATION [GARD:0001629]
synonym: "creeping eruption" RELATED [GARD:0001629]
synonym: "dew itch" RELATED [GARD:0001629]
synonym: "ground itch" RELATED [GARD:0001629]
xref: GARD:1629 {source="MONDO:GARD"}
xref: ICD10CM:B76.9 {source="Orphanet:423717/ntbt", source="Orphanet:423717"}
xref: icd11.foundation:657025682 {source="MONDO:equivalentTo", source="Orphanet:423717"}
xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:107487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007815 {source="MONDO:equivalentTo"}
xref: Orphanet:423717 {source="MONDO:equivalentTo"}
xref: SCTID:19362000 {source="MONDO:equivalentTo"}
xref: UMLS:C0546999 {source="MEDGEN:107487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="Orphanet:423717"} ! parasitic infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans" xsd:anyURI {source="GARD:0001629"}

[Term]
id: MONDO:0018501
name: obsolete rare carcinoma of stomach
def: "OBSOLETE. Rare stomach carcinoma." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:423771"}
synonym: "rare gastric carcinoma" EXACT [MONDO:patterns/rare, Orphanet:423771]
synonym: "rare stomach carcinoma" EXACT []
xref: GARD:21757 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:423771 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004950

[Term]
id: MONDO:0018502
name: hereditary gastric cancer
def: "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome." [Orphanet:423776]
subset: disease_grouping
subset: gard_rare {source="GARD:21758", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:423776"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary cancer of stomach" EXACT [Orphanet:423776]
synonym: "hereditary gastric cancer" EXACT [MONDO:patterns/hereditary]
xref: GARD:21758 {source="MONDO:GARD"}
xref: MEDGEN:1843054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:423776 {source="MONDO:equivalentTo"}
xref: UMLS:C5680075 {source="MEDGEN:1843054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0004950 {source="Orphanet:423776"} ! gastric carcinoma
intersection_of: MONDO:0001056 ! gastric cancer
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018503
name: carcinoma of stomach, salivary gland type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "gastric carcinoma, salivary gland type" EXACT [Orphanet:423781]
xref: ICD10CM:C16.0 {source="Orphanet:423781/nd", source="Orphanet:423781"}
xref: ICD10CM:C16.1 {source="Orphanet:423781/nd", source="Orphanet:423781"}
xref: ICD10CM:C16.2 {source="Orphanet:423781/nd", source="Orphanet:423781"}
xref: ICD10CM:C16.3 {source="Orphanet:423781/nd", source="Orphanet:423781"}
xref: ICD10CM:C16.4 {source="Orphanet:423781/nd", source="Orphanet:423781"}
xref: ICD10CM:C16.5 {source="Orphanet:423781/nd", source="Orphanet:423781"}
xref: ICD10CM:C16.6 {source="Orphanet:423781/nd", source="Orphanet:423781"}
xref: ICD10CM:C16.8 {source="Orphanet:423781/nd", source="Orphanet:423781"}
xref: Orphanet:423781 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0004950 {source="Orphanet:423781"} ! gastric carcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0018504
name: undifferentiated carcinoma of stomach
def: "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation." [NCIT:P378]
subset: gard_rare {source="GARD:21759", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423786"}
subset: orphanet_rare {source="Orphanet:423786"}
subset: rare
synonym: "anaplastic carcinoma of stomach" EXACT [NCIT:C5476]
synonym: "anaplastic carcinoma of the stomach" EXACT [NCIT:C5476]
synonym: "anaplastic gastric carcinoma" EXACT [NCIT:C5476]
synonym: "Gastric undifferentiated carcinoma" EXACT [NCIT:C5476]
synonym: "stomach undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated carcinoma of stomach" EXACT [NCIT:C5476]
synonym: "undifferentiated carcinoma of the stomach" EXACT [NCIT:C5476]
synonym: "undifferentiated gastric (stomach) cancer" EXACT [NCIT:C5476]
synonym: "undifferentiated gastric carcinoma" EXACT [NCIT:C5476, Orphanet:423786]
synonym: "undifferentiated stomach adenocarcinoma" RELATED [ONCOTREE:USTAD]
xref: GARD:21759 {source="MONDO:GARD"}
xref: ICD10CM:C16.0 {source="Orphanet:423786/nd", source="Orphanet:423786"}
xref: ICD10CM:C16.1 {source="Orphanet:423786/nd", source="Orphanet:423786"}
xref: ICD10CM:C16.2 {source="Orphanet:423786/nd", source="Orphanet:423786"}
xref: ICD10CM:C16.3 {source="Orphanet:423786/nd", source="Orphanet:423786"}
xref: ICD10CM:C16.4 {source="Orphanet:423786/nd", source="Orphanet:423786"}
xref: ICD10CM:C16.5 {source="Orphanet:423786/nd", source="Orphanet:423786"}
xref: ICD10CM:C16.6 {source="Orphanet:423786/nd", source="Orphanet:423786"}
xref: ICD10CM:C16.8 {source="Orphanet:423786/nd", source="Orphanet:423786"}
xref: MEDGEN:237029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5476 {source="MONDO:equivalentTo"}
xref: ONCOTREE:USTAD {source="MONDO:equivalentTo"}
xref: Orphanet:423786 {source="MONDO:equivalentTo"}
xref: SCTID:766757006 {source="MONDO:equivalentTo"}
xref: UMLS:C1336858 {source="MONDO:equivalentTo", source="MEDGEN:237029", source="MONDO:MEDGEN"}
is_a: MONDO:0004950 {source="MONDO:Redundant", source="NCIT:C5476", source="Orphanet:423786"} ! gastric carcinoma
is_a: MONDO:0005617 {source="MONDO:Redundant", source="NCIT:C5476"} ! undifferentiated carcinoma
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0000945 ! stomach
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare

[Term]
id: MONDO:0018505
name: obsolete rare tumor of small intestine
def: "OBSOLETE. Any of the forms of small intestine neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:423793"}
synonym: "rare small intestine neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare tumor of small bowel" EXACT [Orphanet:423793]
xref: GARD:21760 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:423793 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004251

[Term]
id: MONDO:0018506
name: mesenchymal tumor of small intestine
subset: disease_grouping
subset: gard_rare {source="GARD:21761", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:423798"}
subset: rare
synonym: "mesenchymal tumor of small bowel" EXACT [Orphanet:423798]
synonym: "mesenchymal tumour of small bowel" EXACT OMO:0003005 []
xref: GARD:21761 {source="MONDO:GARD"}
xref: MEDGEN:1843104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:423798 {source="MONDO:equivalentTo"}
xref: UMLS:C5680077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843104"}
is_a: MONDO:0004251 {source="Orphanet:423798"} ! small intestine neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018505"} ! rare

[Term]
id: MONDO:0018507
name: microcephaly-complex motor and sensory axonal neuropathy syndrome
def: "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." [Orphanet:423894]
subset: gard_rare {source="GARD:21762", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423894"}
subset: orphanet_rare {source="Orphanet:423894"}
subset: rare
xref: GARD:21762 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:423894", source="Orphanet:423894/attributed", source="Orphanet:423894/ntbt"}
xref: MEDGEN:1637079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:423894 {source="MONDO:equivalentTo"}
xref: UMLS:C4706585 {source="MEDGEN:1637079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018508
name: obsolete rare carcinoma of small intestine
def: "OBSOLETE. Any of the forms of small intestine carcinoma that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:423957"}
synonym: "rare carcinoma of small bowel" EXACT [Orphanet:423957]
synonym: "rare small intestine carcinoma" EXACT [MONDO:patterns/rare]
xref: GARD:21763 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:423957 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005522

[Term]
id: MONDO:0018509
name: squamous cell carcinoma of the small intestine
def: "A carcinoma that arises from the small intestine. It is composed of malignant squamous cells." [NCIT:C43534]
subset: gard_rare {source="GARD:21764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423968"}
subset: orphanet_rare {source="Orphanet:423968"}
subset: rare
synonym: "small intestinal squamous cell cancer" EXACT [NCIT:C43534]
synonym: "small intestinal squamous cell carcinoma" EXACT [NCIT:C43534]
synonym: "small intestine squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of the small bowel" EXACT [Orphanet:423968]
xref: GARD:21764 {source="MONDO:GARD"}
xref: ICD10CM:C17.0 {source="Orphanet:423968", source="Orphanet:423968/nd"}
xref: ICD10CM:C17.1 {source="Orphanet:423968", source="Orphanet:423968/nd"}
xref: ICD10CM:C17.2 {source="Orphanet:423968", source="Orphanet:423968/nd"}
xref: ICD10CM:C17.3 {source="Orphanet:423968", source="Orphanet:423968/nd"}
xref: ICD10CM:C17.8 {source="Orphanet:423968", source="Orphanet:423968/nd"}
xref: MEDGEN:313711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43534 {source="MONDO:equivalentTo"}
xref: Orphanet:423968 {source="MONDO:equivalentTo"}
xref: UMLS:C1710111 {source="MEDGEN:313711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="MONDO:Redundant", source="NCIT:C43534"} ! squamous cell carcinoma
is_a: MONDO:0005522 {source="MONDO:Redundant", source="NCIT:C43534", source="Orphanet:423968"} ! small intestine carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018508"} ! rare

[Term]
id: MONDO:0018510
name: small intestine neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5803]
subset: disease_grouping
subset: gard_rare {source="GARD:21765", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:423975"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NET of the small intestine" EXACT [Orphanet:423975]
synonym: "neuroendocrine neoplasm of small intestine" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of the small intestine" EXACT [Orphanet:423975]
synonym: "neuroendocrine tumor of small bowel" EXACT [Orphanet:423975]
synonym: "neuroendocrine tumor of the small intestine" RELATED [Orphanet:423975]
synonym: "neuroendocrine tumour of small bowel" EXACT OMO:0003005 []
synonym: "neuroendocrine tumour of the small intestine" RELATED OMO:0003005 []
synonym: "small intestinal neuroendocrine neoplasm" EXACT [NCIT:C5803]
synonym: "small intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5803]
synonym: "small intestine neuroendocrine tumor" EXACT [DOID:4434, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "small intestine neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:4434 {source="MONDO:equivalentTo"}
xref: EFO:1001928 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21765 {source="MONDO:GARD"}
xref: MEDGEN:233453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5803 {source="DOID:4434", source="MONDO:equivalentTo"}
xref: Orphanet:423975 {source="MONDO:equivalentTo"}
xref: UMLS:C1336005 {source="MEDGEN:233453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002883 {source="DOID:4434", source="MONDO:Redundant", source="NCIT:C5803"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0004251 {source="DOID:4434", source="MONDO:0018539-obsoleted", source="MONDO:Redundant", source="NCIT:C5803"} ! small intestine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002108 ! small intestine
relationship: excluded_subClassOf MONDO:0000956 {source="DOID:4434", source="https://orcid.org/0000-0001-5208-3432"} ! small intestine cancer

[Term]
id: MONDO:0018511
name: epithelial tumor of the appendix
def: "A epithelial neoplasm that involves the vermiform appendix." [MONDO:patterns/location]
subset: disease_grouping
subset: gard_rare {source="GARD:21766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:423982"}
subset: rare
synonym: "appendiceal epithelial tumor" EXACT [Orphanet:423982]
synonym: "appendiceal epithelial tumour" EXACT OMO:0003005 []
synonym: "vermiform appendix epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: GARD:21766 {source="MONDO:GARD"}
xref: MEDGEN:1842930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:423982 {source="MONDO:equivalentTo"}
xref: UMLS:C5680073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842930"}
is_a: MONDO:0021118 {source="Orphanet:423982"} ! intestinal neoplasm
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015186"} ! rare

[Term]
id: MONDO:0018512
name: obsolete rare epithelial tumor of colon
def: "OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:423991"}
synonym: "rare epithelial tumor of colon" EXACT [MONDO:patterns/rare]
xref: GARD:21767 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:423991 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024479

[Term]
id: MONDO:0018513
name: squamous cell carcinoma of colon
def: "A squamous cell carcinoma that involves the colon." [MONDO:patterns/location]
subset: gard_rare {source="GARD:21768", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:423994"}
subset: orphanet_rare {source="Orphanet:423994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colon epidermoid carcinoma" EXACT [NCIT:C5490]
synonym: "colon squamous cell cancer" EXACT [NCIT:C5490]
synonym: "colon squamous cell carcinoma" EXACT [MONDO:0003485, MONDO:patterns/location, NCIT:C5490]
synonym: "colonic epidermoid carcinoma" EXACT [DOID:5519, NCIT:C5490]
synonym: "colonic squamous cell carcinoma" EXACT [NCIT:C5490]
synonym: "epidermoid carcinoma of colon" EXACT [NCIT:C5490]
synonym: "epidermoid carcinoma of the colon" EXACT [NCIT:C5490]
synonym: "squamous cell carcinoma of colon" EXACT [DOID:5519, NCIT:C5490]
synonym: "squamous cell carcinoma of the colon" EXACT [NCIT:C5490]
synonym: "squamous cell colon carcinoma" EXACT [NCIT:C5490]
xref: DOID:5519 {source="MONDO:equivalentTo"}
xref: GARD:21768 {source="MONDO:GARD"}
xref: ICD10CM:C18.0 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: ICD10CM:C18.2 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: ICD10CM:C18.3 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: ICD10CM:C18.4 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: ICD10CM:C18.5 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: ICD10CM:C18.6 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: ICD10CM:C18.7 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: ICD10CM:C18.8 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: ICD10CM:C18.9 {source="Orphanet:423994", source="Orphanet:423994/nd"}
xref: MEDGEN:272494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5490 {source="MONDO:equivalentTo", source="DOID:5519"}
xref: Orphanet:423994 {source="MONDO:equivalentTo"}
xref: SCTID:766981007 {source="MONDO:equivalentTo"}
xref: UMLS:C1333100 {source="MEDGEN:272494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002032 {source="DOID:5519", source="MONDO:Redundant", source="NCIT:C5490"} ! colon carcinoma
is_a: MONDO:0006165 {source="MONDO:Redundant", source="NCIT:C5490"} ! colorectal squamous cell carcinoma
is_a: MONDO:0024479 {source="Orphanet:423994"} ! epithelial tumor of colon
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001155 ! colon
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018512"} ! rare

[Term]
id: MONDO:0018514
name: obsolete rare epithelial tumor of rectum
def: "OBSOLETE. Any of the forms of epithelial neoplasm of rectum that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:423998"}
synonym: "rare epithelial neoplasm of rectum" EXACT [MONDO:patterns/rare]
synonym: "rare rectal epithelial tumor" EXACT [Orphanet:423998]
xref: GARD:21769 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:423998 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024476

[Term]
id: MONDO:0018515
name: squamous cell carcinoma of rectum
def: "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." [NCIT:C5554]
subset: gard_rare {source="GARD:21770", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424002"}
subset: orphanet_rare {source="Orphanet:424002"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "rectal squamous carcinoma" EXACT [NCIT:C5554]
synonym: "rectal squamous cell cancer" EXACT [NCIT:C5554]
synonym: "rectal squamous cell carcinoma" EXACT [NCIT:C5554, Orphanet:424002]
synonym: "rectum squamous cell carcinoma" EXACT [MONDO:0003491, MONDO:patterns/location]
synonym: "squamous carcinoma of rectum" EXACT [DOID:5528, NCIT:C5554]
synonym: "squamous carcinoma of the rectum" EXACT [NCIT:C5554]
synonym: "squamous cell carcinoma of rectum" EXACT [NCIT:C5554]
synonym: "squamous cell carcinoma of the rectum" EXACT [DOID:5528, NCIT:C5554]
xref: DOID:5528 {source="MONDO:equivalentTo"}
xref: GARD:21770 {source="MONDO:GARD"}
xref: ICD10CM:C20 {source="Orphanet:424002/ntbt", source="Orphanet:424002"}
xref: MEDGEN:235534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5554 {source="MONDO:equivalentTo", source="DOID:5528"}
xref: Orphanet:424002 {source="MONDO:equivalentTo"}
xref: SCTID:766979005 {source="MONDO:equivalentTo"}
xref: UMLS:C1335690 {source="MEDGEN:235534", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006165 {source="MONDO:Redundant", source="NCIT:C5554"} ! colorectal squamous cell carcinoma
is_a: MONDO:0006519 {source="DOID:5528", source="MONDO:Entailed", source="NCIT:C5554/inferred"} ! rectal cancer
is_a: MONDO:0024476 {source="Orphanet:424002"} ! epithelial neoplasm of rectum
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018514"} ! rare

[Term]
id: MONDO:0018516
name: epithelial tumor of anal canal
def: "A epithelial neoplasm that involves the anal canal." [MONDO:patterns/location]
subset: disease_grouping
subset: gard_rare {source="GARD:21771", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:424010"}
subset: rare
synonym: "anal canal epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: GARD:21771 {source="MONDO:GARD"}
xref: MEDGEN:1842505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:424010 {source="MONDO:equivalentTo"}
xref: UMLS:C5681209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842505"}
is_a: MONDO:0021118 {source="Orphanet:424010"} ! intestinal neoplasm
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: disease_has_location UBERON:0000159 ! anal canal
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015186"} ! rare

[Term]
id: MONDO:0018517
name: obsolete obsolete carcinoma of the anal canal
is_obsolete: true
replaced_by: MONDO:0007108

[Term]
id: MONDO:0018518
name: obsolete adenocarcinoma of the anal canal
is_obsolete: true
replaced_by: MONDO:0002735

[Term]
id: MONDO:0018519
name: obsolete squamous cell carcinoma of the anal canal
is_obsolete: true
replaced_by: MONDO:0004132

[Term]
id: MONDO:0018520
name: obsolete rare epithelial tumor of pancreas
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:424033"}
synonym: "rare pancreatic epithelial tumor" EXACT [Orphanet:424033]
xref: GARD:21775 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:424033 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018521
name: squamous cell carcinoma of pancreas
def: "A squamous cell carcinoma that involves the pancreas." [MONDO:patterns/location]
subset: gard_rare {source="GARD:21776", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424039"}
subset: orphanet_rare {source="Orphanet:424039"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pancreas squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic squamous cell carcinoma" EXACT [Orphanet:424039]
synonym: "squamous cell carcinoma of the pancreas" RELATED [Orphanet:424039]
xref: DOID:0080323 {source="MONDO:equivalentTo"}
xref: GARD:21776 {source="MONDO:GARD"}
xref: ICD10CM:C25.0 {source="Orphanet:424039/nd", source="Orphanet:424039"}
xref: ICD10CM:C25.1 {source="Orphanet:424039/nd", source="Orphanet:424039"}
xref: ICD10CM:C25.2 {source="Orphanet:424039/nd", source="Orphanet:424039"}
xref: ICD10CM:C25.7 {source="Orphanet:424039/nd", source="Orphanet:424039"}
xref: ICD10CM:C25.8 {source="Orphanet:424039/nd", source="Orphanet:424039"}
xref: MEDGEN:393937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173813 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: Orphanet:424039 {source="MONDO:equivalentTo"}
xref: UMLS:C2675993 {source="MEDGEN:393937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005192 {source="Orphanet:424039"} ! exocrine pancreatic carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare

[Term]
id: MONDO:0018522
name: obsolete acinar cell carcinoma of pancreas
is_obsolete: true
replaced_by: MONDO:0006346

[Term]
id: MONDO:0018523
name: pancreatic mucinous cystadenoma
def: "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass." [NCIT:C5718]
subset: gard_rare {source="GARD:21778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424053"}
subset: orphanet_rare {source="Orphanet:424053"}
subset: rare
synonym: "colloid cystadenoma of pancreas" RELATED [NCIT:C5718]
synonym: "colloid cystadenoma of the pancreas" RELATED [NCIT:C5718]
synonym: "colloidal cystadenoma of pancreas" RELATED [NCIT:C5718]
synonym: "colloidal cystadenoma of the pancreas" RELATED [NCIT:C5718]
synonym: "mucinous cystadenocarcinoma of the pancreas" RELATED [Orphanet:424053]
synonym: "mucinous cystadenoma of pancreas" EXACT [DOID:7735, NCIT:C5718]
synonym: "mucinous cystadenoma of the pancreas" RELATED [NCIT:C5718]
synonym: "pancreas mucinous cystadenoma" EXACT [MONDO:patterns/location]
synonym: "pancreatic colloid cystadenoma" RELATED [NCIT:C5718]
synonym: "pancreatic colloidal cystadenoma" RELATED [NCIT:C5718]
synonym: "pancreatic mucinous cystadenocarcinoma" RELATED [Orphanet:424053]
synonym: "pancreatic mucinous cystadenoma" EXACT [MONDO:0004157, NCIT:C5718]
synonym: "pancreatic mucinous cystic neoplasm" RELATED [DOID:7235]
xref: DOID:7235 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:7735 {source="MONDO:equivalentTo"}
xref: GARD:21778 {source="MONDO:GARD"}
xref: ICD10CM:C25.0 {source="Orphanet:424053/nd", source="Orphanet:424053"}
xref: ICD10CM:C25.1 {source="Orphanet:424053/nd", source="Orphanet:424053"}
xref: ICD10CM:C25.2 {source="Orphanet:424053/nd", source="Orphanet:424053"}
xref: ICD10CM:C25.7 {source="Orphanet:424053/nd", source="Orphanet:424053"}
xref: ICD10CM:C25.8 {source="Orphanet:424053/nd", source="Orphanet:424053"}
xref: MEDGEN:277492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41247 {source="DOID:7235"}
xref: NCIT:C5718 {source="DOID:7735", source="MONDO:equivalentTo"}
xref: Orphanet:424053 {source="MONDO:equivalentTo"}
xref: UMLS:C1335309 {source="MEDGEN:277492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002809 {source="DOID:7235", source="DOID:7735", source="MONDO:Redundant"} ! pancreatic cystadenoma
is_a: MONDO:0005192 {source="Orphanet:424053"} ! exocrine pancreatic carcinoma
intersection_of: MONDO:0006859 ! mucinous cystadenoma
intersection_of: disease_has_location UBERON:0001264 ! pancreas
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare

[Term]
id: MONDO:0018524
name: obsolete intraductal papillary mucinous carcinoma of pancreas
is_obsolete: true
replaced_by: MONDO:0004285

[Term]
id: MONDO:0018525
name: solid pseudopapillary carcinoma of pancreas
def: "A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues." [NCIT:C5728]
subset: gard_rare {source="GARD:21780", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424065"}
subset: orphanet_rare {source="Orphanet:424065"}
subset: rare
synonym: "pancreatic solid pseudopapillary carcinoma" EXACT [DOID:6827, MONDO:0004003, NCIT:C5728, Orphanet:424065]
synonym: "solid pseudopapillary carcinoma of pancreas" EXACT [NCIT:C5728]
synonym: "solid pseudopapillary carcinoma of the pancreas" EXACT [NCIT:C5728]
synonym: "solid pseudopapillary neoplasm of the pancreas" BROAD [Orphanet:424065]
xref: DOID:6827 {source="MONDO:equivalentTo"}
xref: GARD:21780 {source="MONDO:GARD"}
xref: ICD10CM:C25.0 {source="Orphanet:424065/nd", source="Orphanet:424065"}
xref: ICD10CM:C25.1 {source="Orphanet:424065/nd", source="Orphanet:424065"}
xref: ICD10CM:C25.2 {source="Orphanet:424065/nd", source="Orphanet:424065"}
xref: ICD10CM:C25.7 {source="Orphanet:424065/nd", source="Orphanet:424065"}
xref: ICD10CM:C25.8 {source="Orphanet:424065/nd", source="Orphanet:424065"}
xref: ICDO:8452/3 {source="NCIT:C5728"}
xref: MEDGEN:236832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5728 {source="MONDO:equivalentTo", source="DOID:6827"}
xref: Orphanet:424065 {source="MONDO:equivalentTo"}
xref: UMLS:C1336029 {source="MEDGEN:236832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005192 {source="DOID:6827", source="Orphanet:424065"} ! exocrine pancreatic carcinoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare

[Term]
id: MONDO:0018526
name: obsolete serous cystadenocarcinoma of pancreas
is_obsolete: true
replaced_by: MONDO:0003630

[Term]
id: MONDO:0018527
name: obsolete osteoclastic giant cell tumor of pancreas
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006479

[Term]
id: MONDO:0018528
name: congenital myopathy with myasthenic-like onset
def: "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." [Orphanet:424107]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:21783", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424107"}
subset: orphanet_rare {source="Orphanet:424107"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital myopathy with myasthenic-like onset" EXACT CLINGEN_LABEL []
xref: GARD:21783 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:424107/attributed", source="Orphanet:424107/ntbt", source="Orphanet:424107"}
xref: MEDGEN:1642781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:424107 {source="MONDO:equivalentTo"}
xref: SCTID:763315005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706390 {source="MONDO:equivalentTo", source="MEDGEN:1642781", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="Orphanet:424107"} ! congenital myopathy
is_a: MONDO:0100150 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1-related myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="Orphanet:424107"} ! RYR1

[Term]
id: MONDO:0018529
name: obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1
subset: ordo_group_of_disorders {source="Orphanet:424925"}
synonym: "qualitative or quantitative defects of Torsin-1A-interacting protein type 1" EXACT [MONDORULE:1, Orphanet:424925]
xref: GARD:21784 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:424925 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018530
name: obsolete rare epithelial tumor of liver and intrahepatic biliary tract
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:424933"}
synonym: "rare epithelial tumor of liver and IBT" EXACT [Orphanet:424933]
xref: GARD:21785 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:424933 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018531
name: carcinoma of liver and intrahepatic biliary tract
def: "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma." [NCIT:C7927]
comment: Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper
subset: disease_grouping
subset: gard_rare {source="GARD:21786", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:424936"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of liver" BROAD [NCIT:C7927]
synonym: "cancer of liver and intrahepatic biliary tract" BROAD [NCIT:C7927]
synonym: "cancer of the liver" BROAD [NCIT:C7927]
synonym: "cancer of the liver and intrahepatic biliary tract" BROAD [NCIT:C7927]
synonym: "carcinoma of liver" BROAD [MONDO:patterns/carcinoma]
synonym: "carcinoma of liver and IBT" EXACT [Orphanet:424936]
synonym: "hepatic cancer" BROAD [NCIT:C7927]
synonym: "hepatocellular carcinoma plus intrahepatic cholangiocarcinoma" RELATED [ONCOTREE:HCCIHCH]
synonym: "liver and hepatobiliary cancer, NOS" BROAD EXCLUDE [NCIT:C7927]
synonym: "liver and intrahepatic bile duct cancer" BROAD [NCIT:C7927]
synonym: "liver and intrahepatic bile duct carcinoma" EXACT [NCIT:C7927]
synonym: "liver and intrahepatic biliary tract cancer" EXACT [NCIT:C7927]
synonym: "liver and intrahepatic biliary tract carcinoma" EXACT [NCIT:C7927]
synonym: "liver cancer" BROAD [NCIT:C7927]
synonym: "liver carcinoma" BROAD [https://orcid.org/0000-0002-6601-2165]
synonym: "liver/hepatobiliary cancer" BROAD [NCIT:C7927]
synonym: "primary liver carcinoma" EXACT [NCIT:C7927]
xref: GARD:21786 {source="MONDO:GARD"}
xref: ICD10CM:C22.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:78921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3828 {source="ONCOTREE:HCCIHCH"}
xref: NCIT:C7927 {source="MONDO:equivalentTo"}
xref: ONCOTREE:HCCIHCH {source="MONDO:equivalentTo"}
xref: Orphanet:424936 {source="MONDO:equivalentTo"}
xref: UMLS:C0279000 {source="MEDGEN:78921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C7927"} ! digestive system carcinoma
is_a: MONDO:0024477 {source="MONDO:0018530-obsoleted"} ! liver and intrahepatic bile duct neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0018532
name: obsolete adenocarcinoma of liver and intrahepatic biliary tract
subset: ordo_disorder {source="Orphanet:424943"}
synonym: "adenocarcinoma of liver and IBT" EXACT [Orphanet:424943]
synonym: "adenocarcinoma of the liver and IBT" EXACT [Orphanet:424943]
synonym: "adenocarcinoma of the liver and intrahepatic biliary tract" EXACT [Orphanet:424943]
xref: GARD:21787 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:C22.0 {source="Orphanet:424943", source="Orphanet:424943/nd"}
xref: ICD10CM:C22.1 {source="Orphanet:424943", source="Orphanet:424943/nd"}
xref: Orphanet:424943 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018533
name: undifferentiated carcinoma of liver and intrahepatic biliary tract
def: "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characteristics. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated." [Orphanet:424970]
subset: gard_rare {source="GARD:21788", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424970"}
subset: orphanet_rare {source="Orphanet:424970"}
subset: rare
synonym: "undifferentiated carcinoma of liver and IBT" EXACT [Orphanet:424970]
xref: GARD:21788 {source="MONDO:GARD"}
xref: ICD10CM:C22.0 {source="Orphanet:424970/nd", source="Orphanet:424970"}
xref: ICD10CM:C22.1 {source="Orphanet:424970/nd", source="Orphanet:424970"}
xref: ICD10CM:C22.7 {source="Orphanet:424970/nd", source="Orphanet:424970"}
xref: MEDGEN:1656437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:424970 {source="MONDO:equivalentTo"}
xref: UMLS:C4749401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1656437"}
is_a: MONDO:0018531 {source="MONDO:Entailed", source="Orphanet:424970"} ! carcinoma of liver and intrahepatic biliary tract
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm

[Term]
id: MONDO:0018534
name: squamous cell carcinoma of liver and intrahepatic biliary tract
def: "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." [Orphanet:424975]
subset: gard_rare {source="GARD:21789", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424975"}
subset: orphanet_rare {source="Orphanet:424975"}
subset: rare
synonym: "squamous cell carcinoma of liver and IBT" EXACT [Orphanet:424975]
xref: GARD:21789 {source="MONDO:GARD"}
xref: ICD10CM:C22.0 {source="Orphanet:424975/nd", source="Orphanet:424975"}
xref: ICD10CM:C22.1 {source="Orphanet:424975/nd", source="Orphanet:424975"}
xref: MEDGEN:1668494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:424975 {source="MONDO:equivalentTo"}
xref: UMLS:C4749400 {source="MEDGEN:1668494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018531 {source="MONDO:Entailed", source="Orphanet:424975"} ! carcinoma of liver and intrahepatic biliary tract
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: MONDO:0024477 ! liver and intrahepatic bile duct neoplasm

[Term]
id: MONDO:0018535
name: biliary cystadenocarcinoma
def: "A cystadenocarcinoma that involves the biliary tree." [MONDO:patterns/location]
subset: gard_rare {source="GARD:21790", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424982"}
subset: orphanet_rare {source="Orphanet:424982"}
subset: rare
synonym: "intrahepatic bile duct cystadenocarcinoma" EXACT [Orphanet:424982]
xref: GARD:21790 {source="MONDO:GARD"}
xref: ICD10CM:C22.1 {source="Orphanet:424982/ntbt", source="Orphanet:424982"}
xref: MEDGEN:473526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:424982 {source="MONDO:equivalentTo"}
xref: UMLS:C2064409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473526"}
is_a: MONDO:0018531 {source="MONDO:Redundant", source="Orphanet:424982"} ! carcinoma of liver and intrahepatic biliary tract
intersection_of: MONDO:0005596 ! cystadenocarcinoma
intersection_of: disease_has_location UBERON:0001173 ! biliary tree

[Term]
id: MONDO:0018536
name: adenocarcinoma of gallbladder and extrahepatic biliary tract
def: "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor." [Orphanet:424991]
subset: gard_rare {source="GARD:21791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424991"}
subset: orphanet_rare {source="Orphanet:424991"}
subset: rare
synonym: "adenocarcinoma of gallbladder and EBT" EXACT [Orphanet:424991]
synonym: "adenocarcinoma of the gallbladder and EBT" EXACT [Orphanet:424991]
synonym: "adenocarcinoma of the gallbladder and extrahepatic biliary tract" EXACT [Orphanet:424991]
xref: GARD:21791 {source="MONDO:GARD"}
xref: ICD10CM:C23 {source="Orphanet:424991/nd", source="Orphanet:424991"}
xref: ICD10CM:C24.0 {source="Orphanet:424991/nd", source="Orphanet:424991"}
xref: ICD10CM:C24.1 {source="Orphanet:424991/nd", source="Orphanet:424991"}
xref: ICD10CM:C24.8 {source="Orphanet:424991/nd", source="Orphanet:424991"}
xref: MEDGEN:1633887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:424991 {source="MONDO:equivalentTo"}
xref: SCTID:765741003 {source="MONDO:equivalentTo"}
xref: UMLS:C4707555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633887"}
is_a: MONDO:0018918 {source="MONDO:Redundant", source="Orphanet:424991"} ! carcinoma of gallbladder and extrahepatic biliary tract
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic biliary tract

[Term]
id: MONDO:0018537
name: squamous cell carcinoma of gallbladder and extrahepatic biliary tract
def: "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." [Orphanet:424996]
subset: gard_rare {source="GARD:21792", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:424996"}
subset: orphanet_rare {source="Orphanet:424996"}
subset: rare
synonym: "squamous cell carcinoma of gallblader and EBT" EXACT [Orphanet:424996]
xref: GARD:21792 {source="MONDO:GARD"}
xref: ICD10CM:C23 {source="Orphanet:424996/nd", source="Orphanet:424996"}
xref: ICD10CM:C24.0 {source="Orphanet:424996/nd", source="Orphanet:424996"}
xref: ICD10CM:C24.1 {source="Orphanet:424996/nd", source="Orphanet:424996"}
xref: ICD10CM:C24.8 {source="Orphanet:424996/nd", source="Orphanet:424996"}
xref: ICD10CM:C24.9 {source="Orphanet:424996/nd", source="Orphanet:424996"}
xref: MEDGEN:1635098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:424996 {source="MONDO:equivalentTo"}
xref: SCTID:766978002 {source="MONDO:equivalentTo"}
xref: UMLS:C4707898 {source="MEDGEN:1635098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018918 {source="MONDO:Redundant", source="Orphanet:424996"} ! carcinoma of gallbladder and extrahepatic biliary tract
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic biliary tract

[Term]
id: MONDO:0018538
name: obsolete inherited digestive cancer-predisposing syndrome
subset: ordo_group_of_disorders {source="Orphanet:425003"}
xref: GARD:21793 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:425003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018539
name: obsolete rare epithelial tumor of small intestine
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:425368"}
synonym: "rare epithelial tumor of small bowel" EXACT [Orphanet:425368]
xref: GARD:21794 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:425368 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018540
name: PFAPA syndrome
def: "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." [Orphanet:42642]
subset: gard_rare {source="GARD:5657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:42642"}
subset: orphanet_rare {source="Orphanet:42642"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Marshall syndrome" RELATED [NCIT:C116917]
synonym: "Marshall syndrome with periodic fever" EXACT [Orphanet:42642]
synonym: "periodic fever, aphthous stomatitis, pharyngitis and adenitis" EXACT [GARD:0005657]
synonym: "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome" EXACT [NCIT:C116917]
synonym: "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [Orphanet:42642]
synonym: "PFAPA" EXACT ABBREVIATION [GARD:0005657]
xref: DOID:0081451 {source="MONDO:equivalentTo"}
xref: GARD:5657 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:42642/ntbt", source="Orphanet:42642"}
xref: MEDGEN:909507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116917 {source="MONDO:equivalentTo"}
xref: Orphanet:42642 {source="MONDO:equivalentTo"}
xref: SCTID:717231003 {source="MONDO:equivalentTo"}
xref: UMLS:C4082167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909507"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C116917"} ! syndromic disease
is_a: MONDO:0019751 {source="Orphanet:42642/inferred", source="PMID:23827249"} ! autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0007179 {source="NCIT:C116917", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: excluded_subClassOf MONDO:0015158 {source="Orphanet:42642", source="https://orcid.org/0000-0001-5208-3432"} ! unexplained periodic fever syndrome

[Term]
id: MONDO:0018541
name: familial hypoaldosteronism
def: "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." [Orphanet:427]
subset: gard_rare {source="GARD:16532", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:427"}
subset: orphanet_rare {source="Orphanet:427"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16532 {source="MONDO:GARD"}
xref: ICD10CM:E27.4 {source="Orphanet:427/attributed", source="Orphanet:427/ntbt", source="Orphanet:427"}
xref: MEDGEN:899592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:427 {source="MONDO:equivalentTo"}
xref: SCTID:715343000 {source="MONDO:equivalentTo"}
xref: UMLS:C4275180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899592"}
is_a: MONDO:0005495 {source="Orphanet:427"} ! adrenal gland disorder
is_a: MONDO:0015900 {source="Orphanet:427"} ! hypoaldosteronism disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare

[Term]
id: MONDO:0018542
name: severe congenital neutropenia
subset: disease_grouping
subset: gard_rare {source="GARD:13592", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1705", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:42738"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutropenia, severe congenital" EXACT [OMIMPS:202700]
synonym: "SCN" EXACT ABBREVIATION []
synonym: "Severe Chronic Neutropenia" EXACT [NORD:1705]
xref: DOID:0050590 {source="MONDO:equivalentTo"}
xref: GARD:13592 {source="MONDO:GARD"}
xref: ICD10CM:D70 {source="Orphanet:42738/attributed", source="Orphanet:42738/ntbt", source="Orphanet:42738", source="DOID:0050590"}
xref: ICD9:288.01 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10052210 {source="Orphanet:42738/e", source="Orphanet:42738"}
xref: MEDGEN:343974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537592 {source="Orphanet:42738/e", source="Orphanet:42738"}
xref: NANDO:1200353 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200745 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C166152 {source="MONDO:equivalentTo"}
xref: NORD:1705 {source="MONDO:NORD"}
xref: OMIMPS:202700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:42738 {source="MONDO:equivalentTo"}
xref: Orphanet:486 {source="DOID:0050590"}
xref: Orphanet:86788 {source="DOID:0050590"}
xref: SCTID:89655007 {source="MONDO:equivalentTo"}
xref: UMLS:C1853118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343974"}
is_a: MONDO:0001475 {source="DOID:0050590"} ! neutropenia
is_a: MONDO:0015134 {source="Orphanet:42738"} ! constitutional neutropenia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:202700"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0018543
name: autosomal dominant hypocalcemia
def: "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria." [Orphanet:428]
subset: gard_rare {source="GARD:2877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:428"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AD hypocalcemia" EXACT [Orphanet:428]
synonym: "HYPOC" RELATED EXCLUDE [DOID:0090109]
synonym: "hypocalcemia" BROAD [OMIMPS:601198]
synonym: "hypocalcemia, autosomal dominant" EXACT [GARD:0002877]
xref: DOID:0090109 {source="MONDO:equivalentTo"}
xref: GARD:2877 {source="MONDO:GARD"}
xref: ICD10CM:E20.8 {source="Orphanet:428", source="Orphanet:428/attributed", source="Orphanet:428/ntbt", source="DOID:0090109"}
xref: MEDGEN:884527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:601198 {source="MONDO:equivalentTo", source="DOID:0090109", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:428 {source="MONDO:equivalentTo", source="DOID:0090109"}
xref: SCTID:711152006 {source="MONDO:equivalentTo"}
xref: UMLS:C4048195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:884527"}
is_a: MONDO:0005557 {source="DOID:0090109", source="Orphanet:428/inferred"} ! calcium metabolic disease
is_a: MONDO:0016390 {source="Orphanet:428", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism
relationship: disease_has_feature HP:0000829 ! Hypoparathyroidism
relationship: disease_has_feature HP:0002901 ! Hypocalcemia
relationship: has_characteristic HP:0000006 {source="Orphanet:428"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601198"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant" xsd:anyURI {source="GARD:0002877"}

[Term]
id: MONDO:0018544
name: adrenoleukodystrophy
def: "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." [Orphanet:43]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5758", source="MONDO:GARD"}
subset: nord_rare {source="NORD:736", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:43"}
subset: orphanet_rare {source="Orphanet:43"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABCD1 deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "adrenoleukodystrophy" EXACT [DOID:10588]
synonym: "adrenoleukodystrophy, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "adrenoleukodystrophy, X-linked recessive" EXACT [OMIM:300100, OMIM:genemap2]
synonym: "adrenomyeloneuropathy, adult" EXACT [OMIM:300100]
synonym: "adrenomyeloneuropathy, adult, X-linked recessive" EXACT [OMIM:300100, OMIM:genemap2]
synonym: "ALD" EXACT ABBREVIATION [DOID:10588, Orphanet:43]
synonym: "Bronze-Schilder disease" EXACT [DOID:10588]
synonym: "diffuse cerebral sclerosis of Schilder" EXACT [DOID:10588]
synonym: "diffuse sclerosis" RELATED [DOID:10588]
synonym: "encephalitis periaxialis concentrica" EXACT [DOID:10588]
synonym: "encephalitis periaxialis, Schilder's" EXACT [DOID:10588]
synonym: "Schilder disease" RELATED EXCLUDE [DOID:10588]
synonym: "Schilder's disease" RELATED EXCLUDE [DOID:10588]
synonym: "Siemerling-Creutzfeldt disease" EXACT [DOID:10588]
synonym: "sudanophilic cerebral sclerosis" EXACT [DOID:10588]
synonym: "X-ALD" EXACT [Orphanet:43]
synonym: "X-Linked Adrenoleukodystrophy" EXACT [NORD:736]
synonym: "X-linked adrenoleukodystrophy" EXACT [DOID:10588]
synonym: "X-linked ALD" EXACT [Orphanet:43]
xref: DOID:10588 {source="MONDO:equivalentTo"}
xref: GARD:5758 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:43", source="Orphanet:43/ntbt", source="Orphanet:43/inclusion"}
xref: ICD10CM:E71.52 {source="DOID:10588"}
xref: ICD10CM:E71.529 {source="DOID:10588"}
xref: ICD10CM:G37.0 {source="DOID:10588"}
xref: ICD9:341.1 {source="DOID:10588", source="MONDO:relatedTo"}
xref: MedDRA:10051260 {source="Orphanet:43", source="Orphanet:43/e"}
xref: MEDGEN:57667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000326 {source="DOID:10588", source="Orphanet:43", source="MONDO:equivalentTo", source="Orphanet:43/e"}
xref: MESH:D002549 {source="DOID:10588", source="MONDO:unrelated"}
xref: NANDO:1200165 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200576 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61252 {source="DOID:10588", source="MONDO:equivalentTo"}
xref: NCIT:C84670 {source="DOID:10588"}
xref: NORD:736 {source="MONDO:NORD"}
xref: OMIM:300100 {source="DOID:10588", source="Orphanet:43", source="MONDO:equivalentTo", source="Orphanet:43/e"}
xref: Orphanet:43 {source="MONDO:equivalentTo"}
xref: SCTID:155059003 {source="DOID:10588"}
xref: SCTID:192932009 {source="DOID:10588"}
xref: SCTID:267702006 {source="DOID:10588"}
xref: SCTID:44875002 {source="DOID:10588"}
xref: SCTID:49692006 {source="DOID:10588", source="MONDO:relatedTo"}
xref: SCTID:65389002 {source="DOID:10588"}
xref: UMLS:C0162309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57667"}
is_a: MONDO:0000425 {source="MESH:D000326/inferred", source="Orphanet:43"} ! X-linked disease
is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:43", source="Orphanet:43/inferred"} ! adrenal gland disorder
is_a: MONDO:0015547 ! hereditary dementia
is_a: MONDO:0019046 {source="DOID:10588", source="NCIT:C61252", source="NCIT:C61252/inferred", source="Orphanet:43"} ! leukodystrophy
is_a: MONDO:0024237 {source="MESH:D000326/inferred"} ! inherited neurodegenerative disorder
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal transporter
relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:43", source="https://orcid.org/0000-0001-5208-3432"} ! chronic primary adrenal insufficiency
relationship: excluded_subClassOf MONDO:0019233 {source="Orphanet:43", source="https://orcid.org/0000-0001-5208-3432", source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906", source="MONDO:0015971"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/61 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! ABCD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0018545
name: obsolete primary immunodeficiency with predisposition to severe viral infection
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:431156"}
xref: GARD:21795 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:431156 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0018546
name: serotonin syndrome
def: "Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." [Orphanet:43116]
subset: gard_rare {source="GARD:18828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:43116"}
subset: orphanet_rare {source="Orphanet:43116"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "serotonergic syndrome" EXACT [Orphanet:43116]
synonym: "serotonin storm" EXACT [Orphanet:43116]
synonym: "serotonin toxicity" EXACT [Orphanet:43116]
synonym: "serotonin toxidrome" EXACT [Orphanet:43116]
xref: EFO:1001842 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18828 {source="MONDO:GARD"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10040108 {source="Orphanet:43116", source="Orphanet:43116/e"}
xref: MEDGEN:152119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020230 {source="Orphanet:43116", source="MONDO:equivalentTo", source="Orphanet:43116/e"}
xref: Orphanet:43116 {source="MONDO:equivalentTo"}
xref: SCTID:371089000 {source="MONDO:equivalentTo"}
xref: UMLS:C0699828 {source="MEDGEN:152119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder

[Term]
id: MONDO:0018547
name: acute tricyclic antidepressant poisoning
def: "Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death." [Orphanet:43117]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:43117"}
subset: ordo_disorder {source="Orphanet:43117"}
subset: orphanet_rare {source="Orphanet:43117"}
subset: rare
xref: ICD10CM:T43.0 {source="Orphanet:43117/ntbt", source="Orphanet:43117"}
xref: MEDGEN:1830115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:43117 {source="MONDO:equivalentTo"}
xref: UMLS:C5681319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830115"}
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018548
name: acute poisoning by drugs with membrane-stabilizing effect
def: "Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine." [Orphanet:43119]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:43119"}
subset: ordo_disorder {source="Orphanet:43119"}
subset: orphanet_rare {source="Orphanet:43119"}
subset: rare
xref: Orphanet:43119 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018549
name: obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: progressive muscular dystrophy'
subset: ordo_group_of_disorders {source="Orphanet:431263"}
synonym: "late-onset scapuloperoneal syndrome, myopathic type" EXACT [Orphanet:431263]
synonym: "late-onset SPMD with hyaline bodies" EXACT [Orphanet:431263]
xref: GARD:21796 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:431263 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016106

[Term]
id: MONDO:0018550
name: obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
subset: ordo_group_of_disorders {source="Orphanet:431320"}
synonym: "SPOAN and SPOAN-related disorder" EXACT [Orphanet:431320]
xref: GARD:21797 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:431320 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018551
name: patent urachus
def: "Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus." [Orphanet:431341]
subset: gard_rare {source="GARD:21798", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431341"}
subset: ordo_morphological_anomaly {source="Orphanet:431341"}
subset: orphanet_rare {source="Orphanet:431341"}
subset: rare
synonym: "patent urachus" EXACT [MONDO:ambiguous]
synonym: "patent urachus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:21798 {source="MONDO:GARD"}
xref: HP:0010479 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q64.4 {source="Orphanet:431341", source="Orphanet:431341/ntbt"}
xref: MEDGEN:75610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99005 {source="MONDO:equivalentTo"}
xref: Orphanet:431341 {source="MONDO:equivalentTo"}
xref: SCTID:398316009 {source="MONDO:equivalentTo"}
xref: UMLS:C0266357 {source="MEDGEN:75610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018565 {source="Orphanet:431341"} ! congenital urachal anomaly
property_value: IAO:0000589 "patent urachus (disease)" xsd:string

[Term]
id: MONDO:0018552
name: urachal sinus
def: "Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected." [Orphanet:431344]
subset: gard_rare {source="GARD:21799", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431344"}
subset: ordo_morphological_anomaly {source="Orphanet:431344"}
subset: orphanet_rare {source="Orphanet:431344"}
subset: rare
xref: GARD:21799 {source="MONDO:GARD"}
xref: ICD10CM:Q64.4 {source="Orphanet:431344", source="Orphanet:431344/ntbt"}
xref: MEDGEN:758682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:431344 {source="MONDO:equivalentTo"}
xref: SCTID:451030007 {source="MONDO:equivalentTo"}
xref: UMLS:C3472657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:758682"}
is_a: MONDO:0018565 {source="Orphanet:431344"} ! congenital urachal anomaly

[Term]
id: MONDO:0018553
name: urachal diverticulum
def: "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." [Orphanet:431347]
subset: gard_rare {source="GARD:21800", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:431347"}
subset: ordo_morphological_anomaly {source="Orphanet:431347"}
subset: orphanet_rare {source="Orphanet:431347"}
subset: rare
synonym: "Vesicourachal diverticulum" EXACT [Orphanet:431347]
xref: GARD:21800 {source="MONDO:GARD"}
xref: ICD10CM:Q64.4 {source="Orphanet:431347", source="Orphanet:431347/ntbt"}
xref: MEDGEN:609128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123254 {source="MONDO:equivalentTo"}
xref: Orphanet:431347 {source="MONDO:equivalentTo"}
xref: SCTID:253899000 {source="MONDO:equivalentTo"}
xref: UMLS:C0431743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609128"}
is_a: MONDO:0018565 {source="Orphanet:431347"} ! congenital urachal anomaly

[Term]
id: MONDO:0018554
name: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
def: "A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." [https://orcid.org/0000-0001-5208-3432, Orphanet:431353]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:21801", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:431353"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PVOD and/or PCH" EXACT ABBREVIATION [Orphanet:431353]
xref: EFO:0009199 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21801 {source="MONDO:GARD"}
xref: MEDGEN:785618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200426 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200428 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:431353 {source="MONDO:equivalentTo"}
xref: UMLS:C3698354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:785618"}
is_a: MONDO:0005087 {source="MONDO:Entailed", source="Orphanet:431353"} ! respiratory system disorder
is_a: MONDO:0005149 {source="Orphanet:431353"} ! pulmonary hypertension
is_a: MONDO:0015924 {source="PMID:30545973"} ! pulmonary arterial hypertension
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510", source="MONDO:0019096"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5781" xsd:anyURI

[Term]
id: MONDO:0018555
name: hypogonadotropic hypogonadism
def: "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." [NCIT:C113347]
subset: gard_rare {source="GARD:16533", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:432"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central hypogonadism" EXACT [NCIT:C113347]
synonym: "congenital idiopathic hypogonadotropic hypogonadism" NARROW [DOID:0090070]
synonym: "gonadotropic deficiency" EXACT [Orphanet:432]
synonym: "hypogonadism, hypogonadotropic" EXACT []
synonym: "hypogonadotropic hypogonadism" EXACT [NCIT:C113347]
synonym: "hypogonadotropic hypogonadism with or without anosmia" EXACT [OMIMPS:147950]
synonym: "hypogonadotropism" RELATED [MONDO:0004228]
synonym: "isolated congenital gonadotropin deficiency" NARROW [DOID:0090070]
synonym: "isolated hypogonadotropic hypogonadism" RELATED []
synonym: "low gonadotropins (secondary hypogonadism)" EXACT []
synonym: "nIHH" EXACT [Orphanet:432]
synonym: "normosmic congenital hypogonadotropic hypogonadism" EXACT [Orphanet:432]
synonym: "Normosmic idiopathic hypogonadotropic hypogonadism" EXACT [Orphanet:432]
synonym: "secondary hypogonadism" EXACT [NCIT:C113347]
xref: DOID:0090070 {source="MONDO:equivalentTo"}
xref: DOID:7455 {source="MONDO:equivalentObsolete"}
xref: GARD:16533 {source="MONDO:GARD"}
xref: HP:0000044 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:432/ntbt", source="DOID:0090070", source="Orphanet:432/inclusion", source="Orphanet:432"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200388 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100138 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200382 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C113347 {source="MONDO:equivalentTo"}
xref: OMIMPS:147950 {source="MONDO:equivalentTo", source="DOID:0090070"}
xref: Orphanet:432 {source="MONDO:equivalentTo", source="DOID:0090070"}
xref: Orphanet:478 {source="DOID:0090070"}
xref: SCTID:33927004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271623 {source="MEDGEN:82883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002146 {source="DOID:0090070", source="MONDO:Redundant", source="NCIT:C113347"} ! hypogonadism
is_a: MONDO:0002259 {source="DOID:0090070/inferred", source="DOID:7455", source="MONDO:Redundant", source="NCIT:C113347/inferred"} ! gonadal disorder
intersection_of: MONDO:0002146 ! hypogonadism
intersection_of: disease_has_basis_in_disruption_of GO:0005183 ! gonadotropin hormone-releasing hormone activity
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:147950"} ! inherited

[Term]
id: MONDO:0018556
name: Lambert-Eaton myasthenic syndrome
def: "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)." [Orphanet:43393]
subset: gard_rare {source="GARD:6851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1346"}
subset: ordo_disorder {source="Orphanet:43393"}
subset: orphanet_rare {source="Orphanet:43393"}
subset: rare
synonym: "Eaton Lambert syndrome" EXACT [GARD:0006851]
synonym: "Eaton-Lambert syndrome" EXACT [DOID:0050214, MESH:D015624]
synonym: "Lambert Eaton myasthenic syndrome" EXACT [GARD:0006851]
synonym: "Lambert Eaton syndrome" EXACT [GARD:0006851]
synonym: "Lambert-Eaton syndrome" EXACT [DOID:0050214, MESH:D015624]
synonym: "LEMS" EXACT ABBREVIATION [DOID:0050214]
synonym: "myasthenic syndrome of Lambert-Eaton" EXACT [GARD:0006851]
synonym: "myasthenic-myopathic syndrome of Lambert-Eaton" EXACT [GARD:0006851]
xref: DOID:0050214 {source="MONDO:equivalentTo"}
xref: GARD:6851 {source="MONDO:GARD"}
xref: ICD10CM:G70.80 {source="DOID:0050214"}
xref: ICD10CM:G73.1 {source="Orphanet:43393/e", source="Orphanet:43393"}
xref: icd11.foundation:796417193 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:43393"}
xref: ICD9:358.3 {source="DOID:0050214"}
xref: MedDRA:10067685 {source="Orphanet:43393/e", source="Orphanet:43393"}
xref: MEDGEN:6005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015624 {source="Orphanet:43393/e", source="DOID:0050214", source="MONDO:equivalentTo", source="Orphanet:43393"}
xref: NCIT:C3155 {source="DOID:0050214", source="MONDO:equivalentTo"}
xref: NORD:1346 {source="MONDO:NORD"}
xref: Orphanet:43393 {source="MONDO:equivalentTo"}
xref: SCTID:230688006 {source="DOID:0050214"}
xref: SCTID:56989000 {source="DOID:0050214", source="MONDO:equivalentTo"}
xref: UMLS:C0022972 {source="MEDGEN:6005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018215 {source="MONDO:Redundant", source="Orphanet:43393", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic neurologic syndrome
is_a: MONDO:0021073 {source="MESH:D015624/inferred", source="MONDO:Redundant", source="NCIT:C3155"} ! paraneoplastic syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome" xsd:anyURI {source="GARD:0006851"}

[Term]
id: MONDO:0018557
name: obsolete rare genetic autonomic nervous system disorder
def: "OBSOLETE. Rare genetic autonomic nervous system disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:434786"}
synonym: "rare genetic autonomic nervous system disease" EXACT []
xref: GARD:21802 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:434786 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001292

[Term]
id: MONDO:0018558
name: obsolete syndrome with wooly hair
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:434809"}
xref: GARD:21803 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:434809 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0018559
name: fetal lower urinary tract obstruction
subset: disease_grouping
subset: gard_rare {source="GARD:21804", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:435365"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LUTO" EXACT ABBREVIATION [Orphanet:435365]
xref: GARD:21804 {source="MONDO:GARD"}
xref: icd11.foundation:1661120971 {source="MONDO:equivalentTo", source="Orphanet:435365"}
xref: MEDGEN:931214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:435365 {source="MONDO:equivalentTo"}
xref: SCTID:717752005 {source="MONDO:equivalentTo"}
xref: UMLS:C4305545 {source="MEDGEN:931214", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:435365", source="Orphanet:435365/inferred"} ! kidney disorder
is_a: MONDO:0019356 {source="Orphanet:435365/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! urogenital tract malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:435365", source="Orphanet:435365/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015934 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic urogenital tract malformation of male and female
relationship: excluded_subClassOf MONDO:0019719 {source="Orphanet:435365/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58", source="https://orcid.org/0000-0001-5208-3432"} ! congenital anomaly of kidney and urinary tract
relationship: excluded_subClassOf MONDO:0019720 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic renal or urinary tract malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare

[Term]
id: MONDO:0018560
name: obsolete anterior urethral valve
comment: out of scope {source="MONDO:excludePhenotype"}
subset: ordo_disorder {source="Orphanet:435372"}
subset: ordo_morphological_anomaly {source="Orphanet:435372"}
xref: GARD:21805 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q64.7 {source="Orphanet:435372/attributed", source="Orphanet:435372/ntbt", source="Orphanet:435372"}
xref: Orphanet:435372 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:253907008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018561
name: precocious puberty in female
def: "A precocious puberty that involves the female organism." [MONDO:patterns/location]
subset: disease_grouping
subset: gard_rare {source="GARD:21807", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:435561"}
subset: rare
synonym: "female organism precocious puberty" EXACT [MONDO:patterns/location]
synonym: "precocious puberty of female organism" EXACT []
xref: GARD:21807 {source="MONDO:GARD"}
xref: HP:0010465
xref: MEDGEN:543449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:435561 {source="MONDO:equivalentTo"}
xref: UMLS:C0271616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543449"}
intersection_of: MONDO:0000088 ! precocious puberty
intersection_of: disease_has_location UBERON:0003100 ! female organism

[Term]
id: MONDO:0018562
name: obsolete hereditary otorhinolaryngological malformation
subset: ordo_group_of_disorders {source="Orphanet:435603"}
synonym: "genetic otorhinolaryngological malformation" EXACT [Orphanet:435603]
xref: GARD:21809 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:435603 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6694" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018563
name: adactyly of foot
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:435623"}
subset: rare
synonym: "congenital absence of toes" EXACT [Orphanet:435623]
xref: ICD10CM:Q72.8 {source="Orphanet:435623", source="Orphanet:435623/attributed", source="Orphanet:435623/ntbt"}
xref: MEDGEN:539387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:435623 {source="MONDO:equivalentObsolete"}
xref: SCTID:66345008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539387"}
is_a: MONDO:0018230 {source="PMID:32239098", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:32239098", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0018564
name: 3p25.3 microdeletion syndrome
def: "A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements." [Orphanet:435638]
subset: gard_rare {source="GARD:21813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435638"}
subset: ordo_malformation_syndrome {source="Orphanet:435638"}
subset: orphanet_rare {source="Orphanet:435638"}
subset: rare
synonym: "Del(3)p(25.3)" EXACT [Orphanet:435638]
synonym: "intellectual disability-epilepsy-stereotypic hand movement syndrome" EXACT [Orphanet:435638]
synonym: "monosomy 3p25.3" EXACT [Orphanet:435638]
xref: GARD:21813 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:435638", source="Orphanet:435638/attributed", source="Orphanet:435638/ntbt"}
xref: MEDGEN:1733655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:435638 {source="MONDO:equivalentTo"}
xref: UMLS:C5437630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1733655"}
is_a: MONDO:0016885 {source="Orphanet:435638"} ! partial deletion of the short arm of chromosome 3
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr3p25.3 ! 3p25.3 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:435638", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018565
name: congenital urachal anomaly
def: "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum." [Orphanet:435743]
subset: disease_grouping
subset: gard_rare {source="GARD:21814", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:435743"}
subset: rare
xref: GARD:21814 {source="MONDO:GARD"}
xref: MEDGEN:1433102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:435743 {source="MONDO:equivalentTo"}
xref: UMLS:C1739100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1433102"}
is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder

[Term]
id: MONDO:0018566
name: short stature-advanced bone age-early-onset osteoarthritis syndrome
subset: gard_rare {source="GARD:17717", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435804"}
subset: orphanet_rare {source="Orphanet:435804"}
subset: rare
xref: GARD:17717 {source="MONDO:GARD"}
xref: ICD10CM:M89.8 {source="Orphanet:435804", source="Orphanet:435804/attributed", source="Orphanet:435804/ntbt"}
xref: MEDGEN:1811782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:435804 {source="MONDO:equivalentTo"}
xref: UMLS:C5681177 {source="MEDGEN:1811782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="Orphanet:435804"} ! skeletal dysplasia

[Term]
id: MONDO:0018567
name: autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
subset: gard_rare {source="GARD:21815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435819"}
subset: orphanet_rare {source="Orphanet:435819"}
subset: rare
synonym: "CMT2 due to TFG mutation" EXACT [Orphanet:435819]
xref: GARD:21815 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:435819/attributed", source="Orphanet:435819/ntbt", source="Orphanet:435819"}
xref: MEDGEN:1800451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:435819 {source="MONDO:equivalentTo"}
xref: UMLS:C5569028 {source="MEDGEN:1800451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011468 ! hereditary motor and sensory neuropathy, Okinawa type
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11758 ! TFG

[Term]
id: MONDO:0018568
name: obsolete COG2-CDG
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2923" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0054559

[Term]
id: MONDO:0018569
name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
def: "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." [Orphanet:435938]
subset: gard_rare {source="GARD:17721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435938"}
subset: ordo_malformation_syndrome {source="Orphanet:435938"}
subset: orphanet_rare {source="Orphanet:435938"}
subset: rare
xref: GARD:17721 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:435938/attributed", source="Orphanet:435938/ntbt", source="Orphanet:435938"}
xref: MEDGEN:1812501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:435938 {source="MONDO:equivalentTo"}
xref: UMLS:C5681178 {source="MEDGEN:1812501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:435938", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:435938", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0018570
name: hypophosphatasia
def: "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." [Orphanet:436]
subset: gard_rare {source="GARD:6734", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436"}
subset: orphanet_rare {source="Orphanet:436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood hypophosphatasia" NARROW [DOID:14213]
synonym: "deficiency of alkaline phosphatase" EXACT [DOID:14213]
synonym: "deficiency of alkaline phosphatase (disorder) [ambiguous]" EXACT [DOID:14213]
synonym: "HPP" EXACT ABBREVIATION [Orphanet:436]
synonym: "hypophospatasia, childhood" NARROW [DOID:14213]
synonym: "hypophosphatasia mild" NARROW [GARD:0006734]
synonym: "phosphoethanol-aminuria" RELATED [GARD:0006734]
synonym: "phosphoethanolaminuria" EXACT [Orphanet:436]
synonym: "Rathburn disease" EXACT [Orphanet:436]
xref: DOID:14213 {source="MONDO:equivalentTo"}
xref: GARD:6734 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="Orphanet:436/inclusion", source="Orphanet:436", source="Orphanet:436/ntbt", source="MONDO:directSiblingOf"}
xref: ICD10CM:E83.39 {source="DOID:14213"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10049933 {source="Orphanet:436", source="Orphanet:436/e"}
xref: MEDGEN:43799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562440 {source="DOID:14213"}
xref: MESH:D007014 {source="Orphanet:436", source="MONDO:equivalentTo", source="Orphanet:436/e", source="DOID:14213"}
xref: NANDO:1200656 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201012 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26798 {source="MONDO:equivalentTo", source="DOID:14213"}
xref: Orphanet:436 {source="MONDO:equivalentTo"}
xref: SCTID:124431003 {source="DOID:14213"}
xref: SCTID:190859005 {source="DOID:14213"}
xref: SCTID:30174008 {source="DOID:14213"}
xref: SCTID:360792001 {source="MONDO:equivalentTo", source="DOID:14213"}
xref: SCTID:70848009 {source="DOID:14213"}
xref: UMLS:C0020630 {source="MEDGEN:43799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:14213", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005066 {source="MESH:D007014/inferred", source="MONDO:Redundant", source="NCIT:C26798"} ! metabolic disease
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:436"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019052 {source="MESH:D007014/inferred", source="MONDO:Redundant"} ! inborn errors of metabolism
relationship: disease_has_feature HP:0004348 {source="Orphanet:436"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:436", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization
relationship: has_characteristic HP:0000006 {source="Orphanet:436"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0018571
name: contractures-developmental delay-Pierre Robin syndrome
subset: gard_rare {source="GARD:21816", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:436003"}
subset: ordo_malformation_syndrome {source="Orphanet:436003"}
subset: orphanet_rare {source="Orphanet:436003"}
subset: rare
synonym: "5q23 microdeletion syndrome" EXACT [Orphanet:436003]
xref: GARD:21816 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:436003/attributed", source="Orphanet:436003/ntbt", source="Orphanet:436003"}
xref: MEDGEN:1805516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:436003 {source="MONDO:equivalentTo"}
xref: UMLS:C5680042 {source="MEDGEN:1805516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:436003"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016904 {source="Orphanet:436003"} ! partial deletion of the long arm of chromosome 5

[Term]
id: MONDO:0018572
name: severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
subset: gard_rare {source="GARD:21817", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436141"}
subset: ordo_malformation_syndrome {source="Orphanet:436141"}
subset: orphanet_rare {source="Orphanet:436141"}
subset: rare
xref: GARD:21817 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:436141", source="Orphanet:436141/attributed", source="Orphanet:436141/ntbt"}
xref: MEDGEN:1808836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:436141 {source="MONDO:equivalentTo"}
xref: UMLS:C5681179 {source="MEDGEN:1808836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:436141"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:436141", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0018573
name: intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
subset: gard_rare {source="GARD:21818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436144"}
subset: orphanet_rare {source="Orphanet:436144"}
subset: rare
xref: GARD:21818 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:436144/attributed", source="Orphanet:436144/ntbt", source="Orphanet:436144"}
xref: MEDGEN:1801791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:436144 {source="MONDO:equivalentTo"}
xref: UMLS:C5681180 {source="MEDGEN:1801791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0018574
name: obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome
subset: ordo_disorder {source="Orphanet:436151"}
subset: otar {source="MONDO:OTAR"}
synonym: "intellectual disability-loss of expressive language-facial dysmorphism syndrome" EXACT [Orphanet:436151]
xref: GARD:17724 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.0 {source="Orphanet:436151", source="Orphanet:436151/attributed", source="Orphanet:436151/ntbt"}
xref: Orphanet:436151 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:436151", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018575
name: obsolete microcephalic primordial dwarfism-insulin resistance syndrome
subset: ordo_disorder {source="Orphanet:436182"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17728 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.1 {source="Orphanet:436182", source="Orphanet:436182/attributed", source="Orphanet:436182/ntbt"}
xref: Orphanet:436182 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018576
name: non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
subset: gard_rare {source="GARD:21819", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436271"}
subset: orphanet_rare {source="Orphanet:436271"}
subset: rare
xref: GARD:21819 {source="MONDO:GARD"}
xref: ICD10CM:G93.4 {source="Orphanet:436271", source="Orphanet:436271/attributed", source="Orphanet:436271/ntbt"}
xref: MEDGEN:1806079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:436271 {source="MONDO:equivalentTo"}
xref: UMLS:C5688227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806079"}
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0019046 {source="Orphanet:436271"} ! leukodystrophy
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy

[Term]
id: MONDO:0018577
name: pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
subset: gard_rare {source="GARD:21820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436274"}
subset: orphanet_rare {source="Orphanet:436274"}
subset: rare
synonym: "PXE-like syndrome with retinitis pigmentosa" EXACT [Orphanet:436274]
xref: GARD:21820 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:436274/attributed", source="Orphanet:436274/ntbt", source="Orphanet:436274"}
xref: MEDGEN:1810682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:436274 {source="MONDO:equivalentTo"}
xref: UMLS:C5680045 {source="MEDGEN:1810682", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0021154 {source="Orphanet:436274", source="https://orcid.org/0000-0002-4142-7153"} ! dermis disorder
relationship: disease_shares_features_of MONDO:0024308 ! pseudoxanthoma elasticum (inherited or acquired)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018578
name: obsolete hypophosphatemic rickets
is_obsolete: true
replaced_by: MONDO:0000044

[Term]
id: MONDO:0018579
name: obsolete disorder of ketone body transport
subset: ordo_group_of_disorders {source="Orphanet:438072"}
synonym: "disorder of keton body transport" RELATED DUBIOUS [Orphanet:438072]
synonym: "disorder of ketone body transport" EXACT []
xref: GARD:21821 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:438072 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018580
name: obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
subset: ordo_disorder {source="Orphanet:438213"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17739 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G40.4 {source="Orphanet:438213/attributed", source="Orphanet:438213/ntbt", source="Orphanet:438213"}
xref: Orphanet:438213 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6695" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018581
name: progressive encephalomyelitis with rigidity and myoclonus
subset: gard_rare {source="GARD:13110", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:438266"}
subset: rare
synonym: "PERM" EXACT ABBREVIATION [OMIM:184850, Orphanet:438266]
synonym: "progressive encephalomyelitis with rigidity" EXACT [MONDO:0800294]
xref: GARD:13110 {source="MONDO:GARD"}
xref: ICD10CM:G04.8 {source="Orphanet:438266", source="Orphanet:438266/ntbt"}
xref: MEDGEN:349287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:184850 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:438266 {source="MONDO:equivalentTo"}
xref: UMLS:C1861457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349287"}
is_a: MONDO:0008491 {source="Orphanet:438266"} ! stiff-person syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7201" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus" xsd:anyURI {source="GARD:0013110"}

[Term]
id: MONDO:0018582
name: GCGR-related hyperglucagonemia
def: "A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus." [Orphanet:438274]
subset: gard_rare {source="GARD:10460", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438274"}
subset: orphanet_rare {source="Orphanet:438274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alpha-cell hyperplasia with glucagonemia" EXACT [OMIM:619290]
synonym: "Mahvash disease" EXACT [Orphanet:438274]
synonym: "MVAH" EXACT ABBREVIATION [OMIM:619290]
synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" EXACT [GARD:0010460]
synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour" EXACT OMO:0003005 []
synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [GARD:0010460]
synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour" EXACT OMO:0003005 []
xref: DOID:0112306 {source="MONDO:equivalentTo"}
xref: GARD:10460 {source="MONDO:GARD"}
xref: ICD10CM:E16.3 {source="Orphanet:438274", source="Orphanet:438274/ntbt"}
xref: MEDGEN:1677024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619290 {source="MONDO:equivalentTo"}
xref: Orphanet:438274 {source="MONDO:equivalentTo"}
xref: UMLS:C4763635 {source="MONDO:equivalentTo", source="MEDGEN:1677024", source="MONDO:MEDGEN"}
is_a: MONDO:0021040 {source="Orphanet:438274", source="https://orcid.org/0000-0001-5208-3432"} ! pancreatic neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621", source="MONDO:0015882"} ! rare

[Term]
id: MONDO:0018583
name: human infection by orthopoxvirus
subset: gard_rare {source="GARD:21822", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:438279"}
subset: orphanet_rare {source="Orphanet:438279"}
subset: rare
xref: GARD:21822 {source="MONDO:GARD"}
xref: ICD10CM:B08.0 {source="Orphanet:438279/e", source="Orphanet:438279"}
xref: MEDGEN:734973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:438279 {source="MONDO:equivalentTo"}
xref: UMLS:C1532229 {source="MEDGEN:734973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="Orphanet:438279"} ! viral infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare

[Term]
id: MONDO:0018584
name: obsolete placental insufficiency
is_obsolete: true
replaced_by: MONDO:0005919

[Term]
id: MONDO:0018585
name: pediatric arterial ischemic stroke
subset: gard_rare {source="GARD:21824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:439175"}
subset: ordo_disorder {source="Orphanet:439175"}
subset: orphanet_rare {source="Orphanet:439175"}
subset: rare
synonym: "childhood AIS" EXACT [Orphanet:439175]
synonym: "childhood arterial ischaemic stroke" EXACT OMO:0003005 []
synonym: "childhood arterial ischemic stroke" EXACT [Orphanet:439175]
synonym: "paediatric AIS" EXACT OMO:0003005 []
synonym: "pediatric AIS" EXACT [Orphanet:439175]
xref: GARD:21824 {source="MONDO:GARD"}
xref: ICD10CM:I63.5 {source="Orphanet:439175", source="Orphanet:439175/ntbt"}
xref: MEDGEN:1803840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439175 {source="MONDO:equivalentTo"}
xref: UMLS:C5680049 {source="MEDGEN:1803840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="Orphanet:439175", source="Orphanet:439175/inferred"} ! vascular disorder
intersection_of: MONDO:0005053 ! ischemic disease
intersection_of: MONDO:0005098 ! stroke disorder
intersection_of: disease_has_location UBERON:0001637 ! artery
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019048", source="MONDO:0019110"} ! rare

[Term]
id: MONDO:0018586
name: zinc-responsive necrolytic acral erythema
subset: gard_rare {source="GARD:21825", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:439196"}
subset: ordo_disorder {source="Orphanet:439196"}
subset: orphanet_rare {source="Orphanet:439196"}
subset: rare
synonym: "NAE" EXACT ABBREVIATION [Orphanet:439196]
synonym: "necrolytic acral erythema" EXACT [Orphanet:439196]
xref: GARD:21825 {source="MONDO:GARD"}
xref: ICD10CM:L53.8 {source="Orphanet:439196", source="Orphanet:439196/ntbt"}
xref: MEDGEN:1613901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439196 {source="MONDO:equivalentTo"}
xref: SCTID:762543009 {source="MONDO:equivalentTo"}
xref: UMLS:C4546437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613901"}
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
relationship: disease_responds_to CHEBI:27363 ! zinc atom

[Term]
id: MONDO:0018587
name: non-recovering obstetric brachial plexus lesion
subset: gard_rare {source="GARD:21826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439202"}
subset: orphanet_rare {source="Orphanet:439202"}
subset: rare
synonym: "chronic obstetric brachial plexus injury" EXACT [Orphanet:439202]
synonym: "chronic obstetric brachial plexus palsy" EXACT [Orphanet:439202]
synonym: "non-recovering OBPI" EXACT [Orphanet:439202]
synonym: "non-recovering OBPL" EXACT [Orphanet:439202]
xref: GARD:21826 {source="MONDO:GARD"}
xref: ICD10CM:P14.3 {source="Orphanet:439202/ntbt", source="Orphanet:439202"}
xref: MEDGEN:1810145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439202 {source="MONDO:equivalentTo"}
xref: UMLS:C5680048 {source="MEDGEN:1810145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015923 {source="Orphanet:439202"} ! acquired peripheral neuropathy

[Term]
id: MONDO:0018588
name: ALECT2 amyloidosis
def: "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands." [Orphanet:439224]
subset: gard_rare {source="GARD:21827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439224"}
subset: orphanet_rare {source="Orphanet:439224"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LECT2 amyloidosis" EXACT [https://orcid.org/0000-0002-2825-0621]
synonym: "leukocyte chemotactic factor-2 amyloidosis" EXACT [Orphanet:439224]
xref: GARD:21827 {source="MONDO:GARD"}
xref: ICD10CM:E85.8 {source="Orphanet:439224/ntbt", source="Orphanet:439224"}
xref: MEDGEN:1801621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439224 {source="MONDO:equivalentTo"}
xref: UMLS:C5680047 {source="MONDO:equivalentTo", source="MEDGEN:1801621", source="MONDO:MEDGEN"}
is_a: MONDO:0019065 {source="Orphanet:439224"} ! amyloidosis

[Term]
id: MONDO:0018589
name: AApoAIV amyloidosis
subset: gard_rare {source="GARD:21828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439232"}
subset: orphanet_rare {source="Orphanet:439232"}
subset: rare
synonym: "apolipoprotein A-IV amyloidosis" EXACT [Orphanet:439232]
xref: DOID:0080927 {source="MONDO:equivalentTo"}
xref: GARD:21828 {source="MONDO:GARD"}
xref: ICD10CM:E85.8 {source="Orphanet:439232", source="Orphanet:439232/ntbt"}
xref: MEDGEN:1800228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439232 {source="MONDO:equivalentTo"}
xref: UMLS:C5568805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800228"}
is_a: MONDO:0019065 {source="Orphanet:439232"} ! amyloidosis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:439232", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0018590
name: ABeta2M amyloidosis
subset: disease_grouping
subset: gard_rare {source="GARD:21829", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:439246"}
subset: rare
synonym: "Beta2-microglobulinic amyloidosis" EXACT [Orphanet:439246]
xref: DOID:0080928 {source="MONDO:equivalentTo"}
xref: GARD:21829 {source="MONDO:GARD"}
xref: icd11.foundation:448754119 {source="MONDO:equivalentTo", source="Orphanet:439246", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439246 {source="MONDO:equivalentTo"}
xref: UMLS:C5680053 {source="MONDO:equivalentTo", source="MEDGEN:1842860", source="MONDO:MEDGEN"}
is_a: MONDO:0019065 {source="Orphanet:439246"} ! amyloidosis

[Term]
id: MONDO:0018591
name: ITM2B amyloidosis
subset: gard_rare {source="GARD:17741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:439254"}
subset: orphanet_rare {source="Orphanet:439254"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial cerebral amyloid angiopathy" EXACT [Orphanet:439254]
synonym: "ITM2B-related amyloidosis" EXACT [Orphanet:439254]
synonym: "ITM2B-related cerebral amyloid angiopathy" EXACT [Orphanet:439254]
xref: GARD:17741 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"}
xref: ICD10EXP:I68.0* {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439254 {source="MONDO:equivalentTo"}
xref: SCTID:45639009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268393 {source="MEDGEN:82800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018634 {source="MONDO:Entailed", source="Orphanet:439254"} ! hereditary amyloidosis
is_a: MONDO:0019065 {source="MONDO:Redundant", source="Orphanet:439254"} ! amyloidosis
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:439254", source="Orphanet:439254/inferred"} ! inherited neurodegenerative disorder
relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:439254"} ! dementia

[Term]
id: MONDO:0018592
name: cutaneous polyarteritis nodosa
def: "Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy." [Orphanet:439729]
subset: gard_rare {source="GARD:7415", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:439729"}
subset: rare
synonym: "cutaneous PAN" EXACT [Orphanet:439729]
synonym: "cutaneous periarteritis nodosa" EXACT [Orphanet:439729]
xref: GARD:7415 {source="MONDO:GARD"}
xref: ICD10CM:M30.0 {source="Orphanet:439729", source="Orphanet:439729/ntbt"}
xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117295 {source="MONDO:equivalentTo"}
xref: Orphanet:439729 {source="MONDO:equivalentTo"}
xref: SCTID:239926000 {source="MONDO:equivalentTo"}
xref: UMLS:C0343190 {source="MEDGEN:83358", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018593 {source="Orphanet:439729"} ! primary polyarteritis nodosa
is_a: MONDO:0019170 {source="NCIT:C117295", source="Orphanet:439729/inferred"} ! polyarteritis nodosa
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa" xsd:anyURI {source="GARD:0007415"}

[Term]
id: MONDO:0018593
name: primary polyarteritis nodosa
subset: gard_rare {source="GARD:21830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:439737"}
subset: rare
synonym: "primary PAN" EXACT [Orphanet:439737]
synonym: "primary periarteritis nodosa" EXACT [Orphanet:439737]
xref: GARD:21830 {source="MONDO:GARD"}
xref: ICD10CM:M30.0 {source="Orphanet:439737", source="Orphanet:439737/e"}
xref: MEDGEN:1842954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439737 {source="MONDO:equivalentTo"}
xref: UMLS:C5680052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842954"}
is_a: MONDO:0019170 {source="Orphanet:439737"} ! polyarteritis nodosa

[Term]
id: MONDO:0018594
name: secondary polyarteritis nodosa
def: "Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV)." [Orphanet:439746]
subset: gard_rare {source="GARD:21831", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:439746"}
subset: rare
synonym: "Secondary PAN" EXACT [Orphanet:439746]
synonym: "secondary PAN" EXACT [Orphanet:439746]
synonym: "secondary periarteritis nodosa" EXACT [Orphanet:439746]
xref: GARD:21831 {source="MONDO:GARD"}
xref: ICD10CM:M30.8 {source="Orphanet:439746", source="Orphanet:439746/ntbt"}
xref: MEDGEN:1843373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439746 {source="MONDO:equivalentTo"}
xref: UMLS:C5680050 {source="MEDGEN:1843373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019170 {source="Orphanet:439746"} ! polyarteritis nodosa

[Term]
id: MONDO:0018595
name: single-organ polyarteritis nodosa
def: "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common." [Orphanet:439755]
subset: gard_rare {source="GARD:21832", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:439755"}
subset: rare
synonym: "single-organ PAN" EXACT [Orphanet:439755]
synonym: "single-organ periarteritis nodosa" EXACT [Orphanet:439755]
xref: GARD:21832 {source="MONDO:GARD"}
xref: ICD10CM:M30.0 {source="Orphanet:439755/ntbt", source="Orphanet:439755"}
xref: MEDGEN:1842346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439755 {source="MONDO:equivalentTo"}
xref: UMLS:C5680051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842346"}
is_a: MONDO:0018593 {source="Orphanet:439755"} ! primary polyarteritis nodosa

[Term]
id: MONDO:0018596
name: systemic polyarteritis nodosa
def: "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement." [Orphanet:439762]
subset: gard_rare {source="GARD:21833", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:439762"}
subset: rare
synonym: "systemic PAN" EXACT [Orphanet:439762]
synonym: "systemic periarteritis nodosa" EXACT [Orphanet:439762]
xref: GARD:21833 {source="MONDO:GARD"}
xref: ICD10CM:M30.0 {source="Orphanet:439762", source="Orphanet:439762/ntbt"}
xref: Orphanet:439762 {source="MONDO:equivalentTo"}
is_a: MONDO:0018593 {source="Orphanet:439762"} ! primary polyarteritis nodosa

[Term]
id: MONDO:0018597
name: plastic bronchitis
def: "A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe." [https://www.chop.edu/conditions-diseases/plastic-bronchitis]
subset: gard_rare {source="GARD:21835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:439881"}
subset: ordo_disorder {source="Orphanet:439881"}
subset: orphanet_rare {source="Orphanet:439881"}
subset: rare
synonym: "croupous bronchitis" EXACT [Orphanet:439881]
synonym: "fibrinous bronchitis" EXACT [Orphanet:439881]
synonym: "pseudo-membranous bronchitis" EXACT [Orphanet:439881]
xref: GARD:21835 {source="MONDO:GARD"}
xref: MEDGEN:538495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:439881 {source="MONDO:equivalentTo"}
xref: SCTID:53926002 {source="MONDO:equivalentTo"}
xref: UMLS:C0264342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538495"}
is_a: MONDO:0005087 {source="Orphanet:439881"} ! respiratory system disorder
relationship: disease_has_location UBERON:0006558 ! lymphatic part of lymphoid system

[Term]
id: MONDO:0018598
name: obsolete neonatal adrenoleukodystrophy
def: "OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)." [Orphanet:44]
subset: ordo_disorder {source="Orphanet:44"}
synonym: "adrenoleukodystrophy autosomal neonatal form" RELATED [GARD:0000559]
synonym: "NALD" EXACT ABBREVIATION [Orphanet:44]
xref: GARD:559 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E71.3 {source="Orphanet:44/attributed", source="Orphanet:44/ntbt", source="Orphanet:44"}
xref: ICD10CM:E71.511 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D018901 {source="Orphanet:44", source="Orphanet:44/e"}
xref: NANDO:1200761 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99251 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:44 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:238061001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3222" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy" xsd:anyURI {source="GARD:0000559"}
is_obsolete: true
consider: MONDO:0019609

[Term]
id: MONDO:0018599
name: congenital oculomotor nerve palsy
subset: gard_rare {source="GARD:21836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440221"}
subset: orphanet_rare {source="Orphanet:440221"}
subset: rare
synonym: "congenital CNIII lesion" EXACT [Orphanet:440221]
synonym: "congenital third cranial nerve palsy" EXACT [Orphanet:440221]
xref: GARD:21836 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:440221", source="Orphanet:440221/attributed", source="Orphanet:440221/ntbt"}
xref: MEDGEN:1804232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:440221 {source="MONDO:equivalentTo"}
xref: UMLS:C5680054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804232"}
is_a: MONDO:0015083 {source="Orphanet:440221"} ! nuclear oculomotor paralysis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0018600
name: congenital abducens nerve palsy
subset: gard_rare {source="GARD:21837", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440233"}
subset: orphanet_rare {source="Orphanet:440233"}
subset: rare
synonym: "benign congenital sixth cranial nerve palsy" EXACT [Orphanet:440233]
synonym: "congenital CNVI palsy" EXACT [Orphanet:440233]
xref: GARD:21837 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:440233/attributed", source="Orphanet:440233/ntbt", source="Orphanet:440233"}
xref: MEDGEN:724505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:440233 {source="MONDO:equivalentTo"}
xref: UMLS:C1302994 {source="MONDO:equivalentTo", source="MEDGEN:724505", source="MONDO:MEDGEN"}
is_a: MONDO:0015083 {source="Orphanet:440233"} ! nuclear oculomotor paralysis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0018601
name: autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
subset: gard_rare {source="GARD:21838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440354"}
subset: ordo_malformation_syndrome {source="Orphanet:440354"}
subset: orphanet_rare {source="Orphanet:440354"}
subset: rare
xref: GARD:21838 {source="MONDO:GARD"}
xref: MEDGEN:1801714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:440354 {source="MONDO:equivalentTo"}
xref: UMLS:C5680056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801714"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005381 ! bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018602
name: necrotizing soft tissue infection
subset: gard_rare {source="GARD:21839", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440368"}
subset: orphanet_rare {source="Orphanet:440368"}
subset: rare
synonym: "NSTI" EXACT ABBREVIATION [Orphanet:440368]
xref: GARD:21839 {source="MONDO:GARD"}
xref: ICD10CM:M72.6 {source="MONDO:relatedTo", source="Orphanet:440368", source="Orphanet:440368/ntbt"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:729.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:752585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:440368 {source="MONDO:equivalentTo"}
xref: SCTID:443928008 {source="MONDO:equivalentTo"}
xref: UMLS:C2732890 {source="MEDGEN:752585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="Orphanet:440368"} ! bacterial infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0018603
name: interstitial lung disease due to SP-C deficiency
subset: gard_rare {source="GARD:17744", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440392"}
subset: orphanet_rare {source="Orphanet:440392"}
subset: rare
synonym: "interstitial lung disease due to surfactant protein C deficiency" EXACT [Orphanet:440392]
xref: GARD:17744 {source="MONDO:GARD"}
xref: ICD10CM:J84.8 {source="Orphanet:440392/attributed", source="Orphanet:440392/ntbt", source="Orphanet:440392"}
xref: Orphanet:440392 {source="MONDO:equivalentTo"}
is_a: MONDO:0012580 ! hereditary pulmonary alveolar proteinosis

[Term]
id: MONDO:0018604
name: familial colorectal cancer type X
def: "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes." [NCIT:P378]
subset: gard_rare {source="GARD:21840", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440437"}
subset: orphanet_rare {source="Orphanet:440437"}
subset: rare
synonym: "familial colorectal cancer type X" EXACT [NCIT:C120084]
synonym: "FCCTX" EXACT ABBREVIATION [NCIT:C120084, Orphanet:440437]
xref: GARD:21840 {source="MONDO:GARD"}
xref: ICD10CM:C18.0 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"}
xref: ICD10CM:C18.1 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"}
xref: ICD10CM:C18.2 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"}
xref: ICD10CM:C18.3 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"}
xref: ICD10CM:C18.4 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"}
xref: ICD10CM:C18.5 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"}
xref: ICD10CM:C18.6 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"}
xref: ICD10CM:C18.7 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"}
xref: MEDGEN:856172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120084 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:440437 {source="MONDO:equivalentTo"}
xref: UMLS:C3896578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:856172"}
is_a: MONDO:0018630 {source="NCIT:C120084", source="Orphanet:440437"} ! hereditary nonpolyposis colon cancer

[Term]
id: MONDO:0018605
name: disorders of pentose/polyol metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:21841", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:440701"}
subset: rare
xref: GARD:21841 {source="MONDO:GARD"}
xref: MEDGEN:1843151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:440701 {source="MONDO:equivalentTo"}
xref: UMLS:C5681188 {source="MEDGEN:1843151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019214 {source="Orphanet:440701"} ! inborn carbohydrate metabolic disorder

[Term]
id: MONDO:0018606
name: extensive peripapillary myelinated nerve fibers
subset: gard_rare {source="GARD:21842", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440724"}
subset: orphanet_rare {source="Orphanet:440724"}
subset: rare
xref: GARD:21842 {source="MONDO:GARD"}
xref: MEDGEN:1842279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:440724 {source="MONDO:equivalentTo"}
xref: UMLS:C5681187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842279"}
is_a: MONDO:0005328 ! eye disorder
relationship: disease_has_location UBERON:0000941 ! cranial nerve II
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0018607
name: combined hamartoma of the retina and retinal pigment epithelium
subset: gard_rare {source="GARD:21843", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:440727"}
subset: orphanet_rare {source="Orphanet:440727"}
subset: rare
synonym: "CHR-RPE" EXACT [Orphanet:440727]
synonym: "combined hamartoma of the retina and RPE" EXACT [Orphanet:440727]
xref: GARD:21843 {source="MONDO:GARD"}
xref: MEDGEN:396281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C174548 {source="MONDO:equivalentTo"}
xref: Orphanet:440727 {source="MONDO:equivalentTo"}
xref: UMLS:C1862062 {source="MEDGEN:396281", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021220 {source="Orphanet:440727"} ! eye neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare

[Term]
id: MONDO:0018608
name: pure autonomic failure
def: "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension." [Orphanet:441]
subset: gard_rare {source="GARD:10428", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1948", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:441"}
subset: orphanet_rare {source="Orphanet:441"}
subset: rare
synonym: "Bradbury Eggleston syndrome" EXACT [GARD:0010428]
synonym: "Bradbury-Eggleston syndrome" EXACT [Orphanet:441]
synonym: "idiopathic orthostatic hypotension" EXACT [Orphanet:441]
synonym: "idiopathic orthostatic hypotension (a symptom)" RELATED [GARD:0010428]
synonym: "orthostatic hypotension (a symptom)" RELATED [GARD:0010428]
synonym: "PAF" EXACT ABBREVIATION [Orphanet:441]
synonym: "Pure dysautonomia" EXACT [Orphanet:441]
synonym: "Pure idiopatic dysautonomia" EXACT [Orphanet:441]
xref: GARD:10428 {source="MONDO:GARD"}
xref: ICD10CM:G90.3 {source="Orphanet:441/ntbt", source="Orphanet:441"}
xref: icd11.foundation:734022291 {source="MONDO:equivalentTo", source="Orphanet:441", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:98293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C544351 {source="Orphanet:441/e", source="Orphanet:441"}
xref: MESH:D054970 {source="Orphanet:441/e", source="MONDO:equivalentTo", source="Orphanet:441"}
xref: NORD:1948 {source="MONDO:NORD"}
xref: Orphanet:441 {source="MONDO:equivalentTo"}
xref: SCTID:84438001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393911 {source="MONDO:equivalentTo", source="MEDGEN:98293", source="MONDO:MEDGEN"}
is_a: MONDO:0001292 {source="Orphanet:441"} ! autonomic nervous system disorder
is_a: MONDO:0007803 ! multiple system atrophy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018497"} ! rare

[Term]
id: MONDO:0018609
name: obsolete syndromic hereditary optic neuropathy
def: "OBSOLETE. A hereditary optic neuropathy that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:441434"}
synonym: "syndrome associated with hereditary optic neuropathy" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic hereditary optic neuropathy" EXACT [MONDO:patterns/syndromic]
xref: GARD:21845 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:441434 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0020249

[Term]
id: MONDO:0018610
name: early-onset posterior subcapsular cataract
subset: gard_rare {source="GARD:21846", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:441447"}
subset: rare
xref: GARD:21846 {source="MONDO:GARD"}
xref: ICD10CM:H26.0 {source="Orphanet:441447", source="Orphanet:441447/attributed", source="Orphanet:441447/ntbt"}
xref: MEDGEN:1842187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:441447 {source="MONDO:equivalentTo"}
xref: UMLS:C5681190 {source="MEDGEN:1842187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020377 {source="Orphanet:441447"} ! early-onset partial cataract

[Term]
id: MONDO:0018611
name: early-onset lamellar cataract
subset: gard_rare {source="GARD:13155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:441452"}
subset: rare
xref: GARD:13155 {source="MONDO:GARD"}
xref: MEDGEN:1843303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:441452 {source="MONDO:equivalentTo"}
xref: UMLS:C5681191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843303"}
is_a: MONDO:0013411 ! cataract 16 multiple types

[Term]
id: MONDO:0018612
name: congenital hypothyroidism
def: "A thyroid hormone deficiency present from birth." [Orphanet:442]
subset: disease_grouping
subset: gard_rare {source="GARD:1487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:442"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital goiter" RELATED []
synonym: "congenital goitre" RELATED OMO:0003005 []
synonym: "congenital hypothyroidism" EXACT [MONDO:patterns/congenital]
synonym: "congenital hypothyroidism not due to iodine deficiency" RELATED []
synonym: "congenital iodine deficiency syndrome" EXACT []
synonym: "cretinism" RELATED DEPRECATED [DOID:0050328]
synonym: "fetal iodine deficiency syndrome" RELATED []
synonym: "foetal iodine deficiency syndrome" RELATED OMO:0003005 []
synonym: "infantile hypothyroidism" RELATED []
xref: DOID:0050328 {source="MONDO:equivalentTo"}
xref: GARD:1487 {source="MONDO:GARD"}
xref: ICD10CM:E00.0 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"}
xref: ICD10CM:E00.1 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="DOID:0050328", source="Orphanet:442"}
xref: ICD10CM:E00.2 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"}
xref: ICD10CM:E00.9 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"}
xref: ICD10CM:E03.0 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"}
xref: ICD10CM:E03.1 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="DOID:0050328", source="Orphanet:442"}
xref: icd11.foundation:602450215 {source="MONDO:equivalentTo", source="Orphanet:442"}
xref: ICD9:243 {source="DOID:0050328"}
xref: ICD9:269.3
xref: ICD9:759.89
xref: MedDRA:10010510 {source="Orphanet:442/e", source="Orphanet:442"}
xref: MEDGEN:41344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003409 {source="Orphanet:442/e", source="MONDO:equivalentTo", source="DOID:0050328", source="Orphanet:442"}
xref: NANDO:2200333 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26734 {source="MONDO:equivalentTo", source="DOID:0050328"}
xref: NCIT:C98921 {source="MONDO:otherHierarchy", source="DOID:0050328"}
xref: Orphanet:442 {source="MONDO:equivalentTo"}
xref: SCTID:154660000 {source="DOID:0050328"}
xref: SCTID:154661001 {source="DOID:0050328"}
xref: SCTID:190268003 {source="MONDO:equivalentTo", source="DOID:0050328", source="MONDO:preferredExternal"}
xref: SCTID:190273009 {source="DOID:0050328"}
xref: SCTID:217710005 {source="MONDO:equivalentTo"}
xref: SCTID:267376007 {source="DOID:0050328"}
xref: SCTID:267465007 {source="DOID:0050328"}
xref: SCTID:3614006 {source="DOID:0050328"}
xref: SCTID:75065003 {source="DOID:0050328"}
xref: UMLS:C0010308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41344"}
is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder
is_a: MONDO:0005420 {source="DOID:0050328", source="MESH:D003409", source="MONDO:Redundant", source="NCIT:C26734", source="Orphanet:442", source="Orphanet:442/inferred"} ! hypothyroidism
intersection_of: MONDO:0005420 ! hypothyroidism
intersection_of: has_characteristic MONDO:0021140 ! congenital
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015893"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0018613
name: AH amyloidosis
subset: gard_rare {source="GARD:21847", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:442582"}
subset: orphanet_rare {source="Orphanet:442582"}
subset: rare
synonym: "heavy chain amyloidosis" EXACT [Orphanet:442582]
xref: DOID:0080934 {source="MONDO:equivalentTo"}
xref: GARD:21847 {source="MONDO:GARD"}
xref: ICD10CM:E85.9 {source="Orphanet:442582/ntbt", source="Orphanet:442582"}
xref: MEDGEN:1684787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C158962 {source="MONDO:equivalentTo"}
xref: Orphanet:442582 {source="MONDO:equivalentTo"}
xref: UMLS:C5204115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684787"}
is_a: MONDO:0019065 {source="Orphanet:442582"} ! amyloidosis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:442582", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0018614
name: undetermined early-onset epileptic encephalopathy
def: "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities." [Orphanet:442835]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15028", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:442835"}
subset: orphanet_rare {source="Orphanet:442835"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "undetermined early-onset epileptic encephalopathy" EXACT CLINGEN_LABEL []
synonym: "undetermined EOEE" EXACT [Orphanet:442835]
xref: GARD:15028 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:442835/attributed", source="Orphanet:442835/ntbt", source="Orphanet:442835"}
xref: MEDGEN:1826068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:442835 {source="MONDO:equivalentTo"}
xref: UMLS:C5680057 {source="MEDGEN:1826068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
is_a: MONDO:0020070 {source="Orphanet:442835"} ! neonatal epilepsy syndrome
is_a: MONDO:0020071 {source="Orphanet:442835"} ! infantile epilepsy syndrome
relationship: has_characteristic HP:0003593 {source="Orphanet:442835"} ! Infantile onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0018615
name: hemicrania continua
def: "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied." [https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua]
subset: gard_rare {source="GARD:10795", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443070"}
subset: orphanet_rare {source="Orphanet:443070"}
subset: rare
xref: GARD:10795 {source="MONDO:GARD"}
xref: ICD10CM:G44.0 {source="Orphanet:443070", source="Orphanet:443070/ntbt"}
xref: ICD10CM:G44.51 {source="MONDO:equivalentTo"}
xref: ICD9:339.41 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:748511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:443070 {source="MONDO:equivalentTo"}
xref: SCTID:443095000 {source="MONDO:equivalentTo"}
xref: UMLS:C2349425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:748511"}
is_a: MONDO:0015530 {source="Orphanet:443070"} ! trigeminal autonomic cephalalgia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua" xsd:anyURI {source="GARD:0010795"}

[Term]
id: MONDO:0018616
name: central serous chorioretinopathy
def: "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals." [https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy]
subset: gard_rare {source="GARD:200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443079"}
subset: orphanet_rare {source="Orphanet:443079"}
subset: rare
synonym: "central serous chorioretinopathy after bone marrow transplantation" RELATED [GARD:0000200]
synonym: "central serous choroidopathy" RELATED [GARD:0000200]
synonym: "central serous retinopathy" EXACT [NCIT:C115124]
synonym: "CSC" EXACT ABBREVIATION [NCIT:C115124]
synonym: "CSCR" EXACT ABBREVIATION [Orphanet:443079]
xref: GARD:200 {source="MONDO:GARD"}
xref: ICD10CM:H35.7 {source="Orphanet:443079", source="Orphanet:443079/ntbt"}
xref: icd11.foundation:1623925689 {source="Orphanet:443079", source="MONDO:equivalentTo"}
xref: ICD9:362.41 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:147591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056833 {source="MONDO:equivalentTo"}
xref: NCIT:C115124 {source="MONDO:equivalentTo"}
xref: Orphanet:443079 {source="MONDO:equivalentTo"}
xref: SCTID:312956001 {source="MONDO:equivalentTo"}
xref: UMLS:C0730328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:147591"}
is_a: MONDO:0005283 {source="MESH:D056833", source="NCIT:C115124"} ! retinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy" xsd:anyURI {source="GARD:0000200"}

[Term]
id: MONDO:0018617
name: baroreflex failure
def: "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." [https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure]
subset: gard_rare {source="GARD:10664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:443084"}
subset: ordo_disorder {source="Orphanet:443084"}
subset: orphanet_rare {source="Orphanet:443084"}
subset: rare
xref: GARD:10664 {source="MONDO:GARD"}
xref: ICD10CM:G90.4 {source="Orphanet:443084", source="Orphanet:443084/ntbt"}
xref: icd11.foundation:880662615 {source="MONDO:equivalentTo", source="Orphanet:443084"}
xref: MEDGEN:742620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:443084 {source="MONDO:equivalentTo"}
xref: UMLS:C1959798 {source="MEDGEN:742620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001292 {source="Orphanet:443084"} ! autonomic nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018497"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure" xsd:anyURI {source="GARD:0010664"}

[Term]
id: MONDO:0018618
name: obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin'
subset: ordo_group_of_disorders {source="Orphanet:443090"}
xref: GARD:21848 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:443090 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017969

[Term]
id: MONDO:0018619
name: obsolete hyperinsulinemic hypoglycaemia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3649" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005803

[Term]
id: MONDO:0018620
name: hypothalamic adipsic hypernatraemia syndrome
subset: gard_rare {source="GARD:21850", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443101"}
subset: orphanet_rare {source="Orphanet:443101"}
subset: rare
xref: GARD:21850 {source="MONDO:GARD"}
xref: ICD10CM:E23.3 {source="Orphanet:443101", source="Orphanet:443101/ntbt"}
xref: MEDGEN:1814472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200325 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:443101 {source="MONDO:equivalentTo"}
xref: UMLS:C5681196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814472"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0005151 {source="MONDO:0015889-obsoleted"} ! endocrine system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0018621
name: lymphoplasmacytic lymphoma without IgM production
subset: gard_rare {source="GARD:21851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443159"}
subset: orphanet_rare {source="Orphanet:443159"}
subset: rare
synonym: "lymphoplasmacytic lymphoma without Immunoglobulin M production" EXACT [Orphanet:443159]
xref: GARD:21851 {source="MONDO:GARD"}
xref: ICD10CM:C83.0 {source="Orphanet:443159/ntbt", source="Orphanet:443159"}
xref: MEDGEN:1814446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:443159 {source="MONDO:equivalentTo"}
xref: UMLS:C5680061 {source="MEDGEN:1814446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017594 {source="Orphanet:443159"} ! indolent B-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0018622
name: obsolete nut midline carcinoma
is_obsolete: true
replaced_by: MONDO:0005563

[Term]
id: MONDO:0018623
name: postpartum psychosis
alt_id: MONDO:0024269
def: "Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly." [doi:10.1016/S0140-6736(14)61278-2]
subset: gard_rare {source="GARD:21853", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443173"}
subset: orphanet_rare {source="Orphanet:443173"}
subset: rare
synonym: "puerperal psychosis" EXACT [Orphanet:443173]
xref: GARD:21853 {source="MONDO:GARD"}
xref: ICD10CM:F53 {source="MONDO:equivalentTo"}
xref: ICD10CM:F53.1 {source="Orphanet:443173/ntbt", source="Orphanet:443173"}
xref: ICD9:648.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:636162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:443173 {source="MONDO:equivalentTo"}
xref: SCTID:18260003 {source="MONDO:equivalentTo"}
xref: UMLS:C0520678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:636162"}
is_a: MONDO:0005485 ! psychotic disorder
is_a: MONDO:0024575 {source="Orphanet:443173"} ! pregnancy disorder
is_a: MONDO:0044013 ! puerperal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare

[Term]
id: MONDO:0018624
name: spontaneous intracranial hypotension
subset: gard_rare {source="GARD:21854", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1901"}
subset: ordo_disorder {source="Orphanet:443180"}
subset: orphanet_rare {source="Orphanet:443180"}
subset: rare
synonym: "spontaneous cerebrospinal fluid leak" EXACT [Orphanet:443180]
xref: GARD:21854 {source="MONDO:GARD"}
xref: ICD10CM:G96.0 {source="Orphanet:443180", source="Orphanet:443180/e"}
xref: icd11.foundation:1304151002 {source="MONDO:equivalentTo", source="Orphanet:443180"}
xref: MEDGEN:155914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1901 {source="MONDO:NORD"}
xref: Orphanet:443180 {source="MONDO:equivalentTo"}
xref: UMLS:C0751731 {source="MEDGEN:155914", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021146 {source="Orphanet:443180"} ! headache disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020011"} ! rare

[Term]
id: MONDO:0018625
name: classic stiff person syndrome
subset: gard_rare {source="GARD:17754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:443192"}
subset: rare
synonym: "classic SPS" EXACT [Orphanet:443192]
xref: GARD:17754 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="Orphanet:443192", source="Orphanet:443192/ntbt"}
xref: MEDGEN:1842410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:443192 {source="MONDO:equivalentTo"}
xref: UMLS:C5680058 {source="MEDGEN:1842410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008491 {source="Orphanet:443192"} ! stiff-person syndrome

[Term]
id: MONDO:0018626
name: paratyphoid fever
def: "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi." [NCIT:P378]
subset: gard_rare {source="GARD:21855", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:443227"}
subset: orphanet_rare {source="Orphanet:443227"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paratyphoid" RELATED [DOID:3055]
synonym: "paratyphoid a" RELATED [DOID:3055]
synonym: "paratyphoid A fever" RELATED [DOID:3055]
synonym: "paratyphoid b" RELATED [DOID:3055]
synonym: "paratyphoid B fever" RELATED [DOID:3055]
synonym: "paratyphoid c" RELATED [DOID:3055]
synonym: "paratyphoid C fever" RELATED [DOID:3055]
synonym: "paratyphoid fever A" RELATED [DOID:3055, ICD9CM:002.1, NCIT:C34894]
synonym: "paratyphoid fever B" RELATED [DOID:3055, ICD9CM:002.2, NCIT:C34895]
synonym: "paratyphoid fever C" RELATED [DOID:3055, ICD9CM:002.3, NCIT:C34896]
xref: DOID:3055 {source="MONDO:equivalentTo", source="EFO:0007420"}
xref: EFO:0007420 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21855 {source="MONDO:GARD"}
xref: ICD10CM:A01.1 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"}
xref: ICD10CM:A01.2 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"}
xref: ICD10CM:A01.3 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"}
xref: ICD10CM:A01.4 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"}
xref: icd11.foundation:1780040028 {source="MONDO:equivalentTo", source="Orphanet:443227"}
xref: ICD9:002.1 {source="DOID:3055"}
xref: ICD9:002.2 {source="DOID:3055"}
xref: ICD9:002.3 {source="DOID:3055", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:002.9 {source="DOID:3055"}
xref: MEDGEN:18303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010284 {source="DOID:3055", source="MONDO:equivalentTo", source="EFO:0007420"}
xref: NCIT:C34894 {source="DOID:3055"}
xref: NCIT:C34895 {source="DOID:3055"}
xref: NCIT:C34896 {source="DOID:3055"}
xref: NCIT:C34897 {source="DOID:3055", source="MONDO:equivalentTo"}
xref: Orphanet:443227 {source="MONDO:equivalentTo"}
xref: SCTID:154270009 {source="DOID:3055"}
xref: SCTID:186092009 {source="DOID:3055"}
xref: SCTID:187268002 {source="DOID:3055"}
xref: SCTID:266174006 {source="DOID:3055"}
xref: SCTID:51254007 {source="DOID:3055", source="MONDO:equivalentTo"}
xref: SCTID:71085009 {source="DOID:3055"}
xref: SCTID:76623002 {source="DOID:3055"}
xref: SCTID:85904008 {source="DOID:3055"}
xref: UMLS:C0030528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18303"}
is_a: MONDO:0000314 {source="DOID:3055"} ! primary bacterial infectious disease
is_a: MONDO:0000827 {source="Orphanet:443227"} ! salmonellosis
is_a: MONDO:0005113 {source="DOID:3055/inferred", source="EFO:0007420", source="MESH:D010284/inferred", source="MONDO:Redundant", source="NCIT:C34897"} ! bacterial infectious disease
relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly
relationship: disease_has_feature HP:0001662 ! Bradycardia

[Term]
id: MONDO:0018627
name: obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: ACTH-independent Cushing syndrome'
xref: GARD:21856 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:443287 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0020529

[Term]
id: MONDO:0018628
name: HIV-associated cancer
subset: gard_rare {source="GARD:21857", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:443291"}
subset: ordo_disorder {source="Orphanet:443291"}
subset: orphanet_rare {source="Orphanet:443291"}
subset: rare
synonym: "HIV-related cancer" EXACT [Orphanet:443291]
xref: GARD:21857 {source="MONDO:GARD"}
xref: MEDGEN:1843219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:443291 {source="MONDO:equivalentTo"}
xref: UMLS:C5680059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843219"}
is_a: MONDO:0017341 {source="Orphanet:443291"} ! virus associated tumor
intersection_of: MONDO:0024571 ! AIDS-related disorder
intersection_of: disease_has_feature MONDO:0004992 ! cancer

[Term]
id: MONDO:0018629
name: focal stiff limb syndrome
subset: gard_rare {source="GARD:17756", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:443804"}
subset: rare
synonym: "focal stiff-person syndrome" EXACT [Orphanet:443804]
synonym: "Stiff leg syndrome" EXACT [Orphanet:443804]
xref: GARD:17756 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="Orphanet:443804", source="Orphanet:443804/ntbt"}
xref: MEDGEN:1672496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:443804 {source="MONDO:equivalentTo"}
xref: UMLS:C4324606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672496"}
is_a: MONDO:0008491 {source="Orphanet:443804"} ! stiff-person syndrome

[Term]
id: MONDO:0018630
name: hereditary nonpolyposis colon cancer
def: "Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age." [Orphanet:443909]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:443909"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colorectal cancer, hereditary nonpolyposis" EXACT [OMIMPS:120435]
synonym: "familial nonpolyposis colon cancer" EXACT [Orphanet:443909]
synonym: "familial nonpolyposis colorectal cancer" EXACT [Orphanet:443909]
synonym: "hereditary nonpolyposis colon cancer" EXACT CLINGEN_LABEL [NCIT:C120083]
synonym: "hereditary nonpolyposis colorectal cancer" EXACT [NCIT:C120083, Orphanet:443909]
synonym: "Hereditary nonpolyposis colorectal cancer (HNPCC)" EXACT [NCIT:C120083]
synonym: "HNPCC" EXACT ABBREVIATION [NCIT:C120083, Orphanet:443909]
xref: MEDGEN:232602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120083 {source="MONDO:equivalentTo"}
xref: OMIMPS:120435 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:443909 {source="MONDO:equivalentTo"}
xref: SCTID:315058005 {source="MONDO:equivalentTo"}
xref: UMLS:C1333990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232602"}
is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C120083", source="Orphanet:443909/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0023113 {source="https://github.com/monarch-initiative/mondo/issues/1627"} ! familial colorectal cancer
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:120435"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1673" xsd:anyURI
property_value: seeAlso "https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc" xsd:string

[Term]
id: MONDO:0018631
name: Marie Unna hereditary hypotrichosis
def: "A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." [https://orcid.org/0000-0001-5208-3432, Orphanet:444]
subset: gard_rare {source="GARD:3390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444"}
subset: orphanet_rare {source="Orphanet:444"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HR hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypotrichosis caused by mutation in HR" EXACT [MONDO:design_pattern]
synonym: "hypotrichosis, Marie Unna type" EXACT [Orphanet:444]
synonym: "Marie Unna congenital hypotrichosis" EXACT [Orphanet:444]
synonym: "MUHH" EXACT ABBREVIATION [Orphanet:444]
xref: GARD:3390 {source="MONDO:GARD"}
xref: ICD10CM:Q84.0 {source="Orphanet:444", source="Orphanet:444/attributed", source="Orphanet:444/ntbt"}
xref: MEDGEN:419706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535912 {source="Orphanet:444", source="MONDO:equivalentTo", source="Orphanet:444/e"}
xref: Orphanet:444 {source="MONDO:equivalentTo"}
xref: UMLS:C2931059 {source="MONDO:equivalentTo", source="MEDGEN:419706", source="MONDO:MEDGEN"}
is_a: MONDO:0003037 {source="DOID:0110701", source="MESH:C567718", source="MONDO:Redundant", source="OMIM:146550"} ! hypotrichosis
relationship: excluded_subClassOf MONDO:0004907 {source="Orphanet:444", source="https://orcid.org/0000-0001-5208-3432"} ! alopecia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6357" xsd:anyURI

[Term]
id: MONDO:0018632
name: 11q22.2q22.3 microdeletion syndrome
subset: gard_rare {source="GARD:21858", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444002"}
subset: ordo_malformation_syndrome {source="Orphanet:444002"}
subset: orphanet_rare {source="Orphanet:444002"}
subset: rare
synonym: "11q22.2-q22.3 deletion syndrome" EXACT [Orphanet:444002]
synonym: "Del(11)(q22.2q22.3)" EXACT [Orphanet:444002]
synonym: "monosomy 11q22.2-q22.3" EXACT [Orphanet:444002]
synonym: "monosomy 11q22.2q22.3" EXACT [Orphanet:444002]
xref: GARD:21858 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:444002", source="Orphanet:444002/attributed", source="Orphanet:444002/ntbt"}
xref: MEDGEN:1805294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:444002 {source="MONDO:equivalentTo"}
xref: UMLS:C5680062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805294"}
is_a: MONDO:0015159 {source="Orphanet:444002"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016910 {source="Orphanet:444002"} ! partial deletion of the long arm of chromosome 11
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr11q22.2-q22.3 ! 11q22.2-q22.3 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:444002", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018633
name: 20q11.2 microdeletion syndrome
def: "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported." [Orphanet:444051]
subset: gard_rare {source="GARD:21859", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444051"}
subset: ordo_malformation_syndrome {source="Orphanet:444051"}
subset: orphanet_rare {source="Orphanet:444051"}
subset: rare
synonym: "Del(20)(q11.2)" EXACT [Orphanet:444051]
synonym: "monosomy 20q11" EXACT [Orphanet:444051]
xref: GARD:21859 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:444051/attributed", source="Orphanet:444051/ntbt", source="Orphanet:444051"}
xref: MEDGEN:1810637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:444051 {source="MONDO:equivalentTo"}
xref: UMLS:C5680063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810637"}
is_a: MONDO:0015159 {source="Orphanet:444051"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016918 {source="Orphanet:444051"} ! partial deletion of the long arm of chromosome 20
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr20q11.2 ! 20q11.2 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:444051", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018634
name: hereditary amyloidosis
def: "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants." [https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis]
subset: disease_grouping
subset: gard_rare {source="GARD:6611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:444116"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis hereditary" RELATED [GARD:0006611]
synonym: "amyloidosis, Familial" EXACT [NCIT:C84555]
synonym: "familial amyloidosis" RELATED [GARD:0006611]
synonym: "hereditary amyloidosis (disease)" EXACT [MONDO:patterns/hereditary]
xref: GARD:6611 {source="MONDO:GARD"}
xref: icd11.foundation:1152878652 {source="Orphanet:444116", source="MONDO:equivalentTo"}
xref: MEDGEN:148146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D028226 {source="MONDO:equivalentTo"}
xref: NCIT:C84555 {source="MONDO:equivalentTo"}
xref: Orphanet:444116 {source="MONDO:equivalentTo"}
xref: SCTID:367601000119103 {source="MONDO:equivalentTo"}
xref: UMLS:C0740340 {source="MEDGEN:148146", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="MESH:D028226", source="MONDO:Redundant"} ! inborn errors of metabolism
is_a: MONDO:0019065 {source="MESH:D028226", source="MONDO:Redundant", source="NCIT:C84555"} ! amyloidosis
intersection_of: MONDO:0019065 ! amyloidosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis" xsd:anyURI {source="GARD:0006611"}

[Term]
id: MONDO:0018635
name: idiopathic phalangeal acro-osteolysis
subset: gard_rare {source="GARD:21860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444316"}
subset: orphanet_rare {source="Orphanet:444316"}
subset: rare
synonym: "idiopathic phalangeal acroosteolysis" EXACT [Orphanet:444316]
xref: GARD:21860 {source="MONDO:GARD"}
xref: ICD10CM:M89.5 {source="Orphanet:444316", source="Orphanet:444316/ntbt"}
xref: MEDGEN:1803504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:444316 {source="MONDO:equivalentTo"}
xref: UMLS:C5680064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803504"}
is_a: MONDO:0005380 {source="Orphanet:444316"} ! osteonecrosis
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018636
name: autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
subset: gard_rare {source="GARD:17766", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444463"}
subset: orphanet_rare {source="Orphanet:444463"}
subset: rare
synonym: "Evans syndrome associated with primary immunodeficiency" EXACT [Orphanet:444463]
synonym: "TPPII deficiency" EXACT [Orphanet:444463]
synonym: "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease" EXACT [Orphanet:444463]
synonym: "triangle disease" EXACT [Orphanet:444463]
synonym: "tripeptidyl-peptidase II deficiency" EXACT [Orphanet:444463]
xref: GARD:17766 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:444463/attributed", source="Orphanet:444463/ntbt", source="Orphanet:444463"}
xref: Orphanet:444463 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease

[Term]
id: MONDO:0018637
name: familial chylomicronemia syndrome
subset: gard_rare {source="GARD:6414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:444490"}
subset: orphanet_rare {source="Orphanet:444490"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0111417 {source="MONDO:equivalentTo"}
xref: GARD:6414 {source="MONDO:GARD"}
xref: ICD10CM:E78.3 {source="Orphanet:444490/inclusion", source="Orphanet:444490", source="Orphanet:444490/ntbt"}
xref: MEDGEN:1778100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:444490 {source="MONDO:equivalentTo"}
xref: UMLS:C5442313 {source="MEDGEN:1778100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0018638
name: pseudohypoaldosteronism
def: "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate." [NCIT:C85034]
subset: disease_grouping
subset: gard_rare {source="GARD:21861", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:444916"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:4479 {source="MONDO:equivalentTo"}
xref: GARD:21861 {source="MONDO:GARD"}
xref: ICD9:255.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011546 {source="DOID:4479", source="MONDO:equivalentTo"}
xref: NANDO:2100133 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200367 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85034 {source="DOID:4479", source="MONDO:equivalentTo"}
xref: Orphanet:444916 {source="MONDO:equivalentTo"}
xref: SCTID:77098009 {source="DOID:4479", source="MONDO:equivalentTo"}
xref: UMLS:C0033805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18721"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0006510 {source="DOID:4479", source="MESH:D011546"} ! renal tubular transport disease

[Term]
id: MONDO:0018639
name: caudal regression-sirenomelia spectrum
def: "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported." [Orphanet:444941]
subset: disease_grouping
subset: gard_rare {source="GARD:21862", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:444941"}
subset: rare
xref: GARD:21862 {source="MONDO:GARD"}
xref: MEDGEN:1843168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:444941 {source="MONDO:equivalentTo"}
xref: UMLS:C5681198 {source="MONDO:equivalentTo", source="MEDGEN:1843168", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019054 {source="MONDO:0015226-obsoleted"} ! congenital limb malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018640
name: secondary vasculitis
subset: disease_grouping
subset: gard_rare {source="GARD:21863", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:445197"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21863 {source="MONDO:GARD"}
xref: MEDGEN:1842960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:445197 {source="MONDO:equivalentTo"}
xref: UMLS:C5681200 {source="MEDGEN:1842960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018882 {source="Orphanet:445197"} ! vasculitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0018641
name: obsolete paroxysmal nocturnal hemoglobinuria
comment: Split this term to create a grouping class with acquired and inherited forms as children.
xref: NANDO:1200300 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200311 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100182 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200621 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
is_obsolete: true
replaced_by: MONDO:0100245

[Term]
id: MONDO:0018642
name: NIK deficiency
def: "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." [doi:10.1038/ncomms6360]
subset: gard_rare {source="GARD:21864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447731"}
subset: orphanet_rare {source="Orphanet:447731"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MAP3K14 non-severe combined immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "non-severe combined immunodeficiency caused by mutation in MAP3K14" EXACT [MONDO:design_pattern]
synonym: "primary immunodeficiency with multifaceted aberrant lymphoid immunity" EXACT [Orphanet:447731]
xref: GARD:21864 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:447731", source="Orphanet:447731/attributed", source="Orphanet:447731/ntbt"}
xref: MEDGEN:1808868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:447731 {source="MONDO:equivalentTo"}
xref: UMLS:C5680065 {source="MEDGEN:1808868", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018814 {source="MONDO:Redundant", source="Orphanet:447731", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency
intersection_of: MONDO:0018814 ! non-SCID combined immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6853 ! MAP3K14
relationship: disease_has_basis_in_disruption_of GO:0007249 {source="doi:10.1038/ncomms6360"} ! canonical NF-kappaB signal transduction
relationship: disease_has_feature HP:0004313 {source="doi:10.1038/ncomms6360"} ! Decreased circulating antibody level
relationship: disease_has_feature HP:0010976 {source="doi:10.1038/ncomms6360"} ! B lymphocytopenia

[Term]
id: MONDO:0018643
name: susceptibility to localized juvenile periodontitis
subset: ordo_disorder {source="Orphanet:447740"}
subset: orphanet_rare {source="Orphanet:447740"}
subset: predisposition
subset: rare
xref: ICD10CM:D71 {source="Orphanet:447740/attributed", source="Orphanet:447740/ntbt", source="Orphanet:447740"}
xref: MEDGEN:1812489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:447740 {source="MONDO:equivalentTo"}
xref: UMLS:C5681199 {source="MONDO:equivalentTo", source="MEDGEN:1812489", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0015978 {source="Orphanet:447740", source="https://orcid.org/0000-0001-5208-3432"} ! functional neutrophil defect
relationship: predisposes_towards MONDO:0005076 ! periodontitis

[Term]
id: MONDO:0018644
name: autosomal dominant complex spastic paraplegia type 9B
subset: gard_rare {source="GARD:21866", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:447757"}
subset: orphanet_rare {source="Orphanet:447757"}
subset: rare
synonym: "AD-SPG9B" EXACT [Orphanet:447757]
xref: GARD:21866 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:447757/attributed", source="Orphanet:447757/ntbt", source="Orphanet:447757"}
xref: MEDGEN:1800402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:447757 {source="MONDO:equivalentTo"}
xref: UMLS:C5568979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800402"}
is_a: MONDO:0015091 {source="Orphanet:447757"} ! autosomal dominant spastic paraplegia type 9
property_value: IAO:0000233 "https://github.com/Orphanet/ORDO/issues/8" xsd:anyURI

[Term]
id: MONDO:0018645
name: IgG4-related sclerosing cholangitis
subset: gard_rare {source="GARD:21867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:447764"}
subset: rare
xref: GARD:21867 {source="MONDO:GARD"}
xref: ICD10CM:K83.0 {source="Orphanet:447764", source="Orphanet:447764/ntbt"}
xref: MEDGEN:927778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200928 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:447764 {source="MONDO:equivalentTo"}
xref: SCTID:722870008 {source="MONDO:equivalentTo"}
xref: UMLS:C4302109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927778"}
is_a: MONDO:0017287 {source="Orphanet:447764"} ! IgG4-related disease
is_a: MONDO:0018646 {source="Orphanet:447764"} ! sclerosing cholangitis

[Term]
id: MONDO:0018646
name: sclerosing cholangitis
def: "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:21868", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:447771"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibrosing cholangitis" EXACT [DOID:14268]
synonym: "Primary sclerosing cholangitis" EXACT [NCIT:C4828]
synonym: "primary sclerosing cholangitis (PSC)" EXACT [NCIT:C4828]
synonym: "sclerosing cholangitis" EXACT [MONDO:ambiguous]
synonym: "sclerosing cholangitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:14268 {source="EFO:0004268", source="MONDO:equivalentTo"}
xref: EFO:0004268 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21868 {source="MONDO:GARD"}
xref: HP:0030991 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K83.0 {source="DOID:14268"}
xref: MEDGEN:3036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015209 {source="EFO:0004268", source="DOID:14268"}
xref: NANDO:1200440 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100265 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4828 {source="EFO:0004268", source="MONDO:equivalentTo"}
xref: Orphanet:447771 {source="MONDO:equivalentTo"}
xref: SCTID:197443000 {source="DOID:14268"}
xref: SCTID:235917005 {source="EFO:0004268", source="MONDO:equivalentTo", source="DOID:14268"}
xref: SCTID:4032000 {source="DOID:14268"}
xref: UMLS:C0008313 {source="MEDGEN:3036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004789 {source="DOID:14268", source="NCIT:C4828"} ! cholangitis
is_a: MONDO:0004868 {source="Orphanet:447771"} ! biliary tract disorder
relationship: disease_has_location UBERON:0002294 {source="EFO:0000784"} ! biliary system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: IAO:0000589 "sclerosing cholangitis (disease)" xsd:string

[Term]
id: MONDO:0018647
name: secondary sclerosing cholangitis
subset: gard_rare {source="GARD:21869", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447774"}
subset: orphanet_rare {source="Orphanet:447774"}
subset: rare
xref: GARD:21869 {source="MONDO:GARD"}
xref: ICD10CM:K83.0 {source="Orphanet:447774/ntbt", source="Orphanet:447774"}
xref: MEDGEN:586530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:447774 {source="MONDO:equivalentTo"}
xref: SCTID:197442005 {source="MONDO:equivalentTo"}
xref: UMLS:C0400978 {source="MEDGEN:586530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018646 {source="Orphanet:447774"} ! sclerosing cholangitis

[Term]
id: MONDO:0018648
name: Keratocystic odontogenic tumor
def: "An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence." [NCIT:C54302]
subset: gard_rare {source="GARD:21870", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447777"}
subset: orphanet_rare {source="Orphanet:447777"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KTOC" EXACT ABBREVIATION [Orphanet:447777]
synonym: "odontogenic Keratocyst" EXACT [NCIT:C54302]
synonym: "odontogenic keratocystoma" EXACT [Orphanet:447777]
xref: GARD:21870 {source="MONDO:GARD"}
xref: ICD10CM:D16.4 {source="Orphanet:447777/ntbt", source="Orphanet:447777"}
xref: MEDGEN:313330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54302 {source="MONDO:equivalentTo"}
xref: Orphanet:447777 {source="MONDO:equivalentTo"}
xref: SCTID:713277006 {source="MONDO:equivalentTo"}
xref: UMLS:C1708604 {source="MEDGEN:313330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021192 {source="Orphanet:447777"} ! odontogenic neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017797"} ! rare

[Term]
id: MONDO:0018649
name: obsolete cerebral visual impairment
def: "OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." [NCIT:C35275]
subset: ordo_clinical_syndrome {source="Orphanet:447788"}
subset: ordo_disorder {source="Orphanet:447788"}
synonym: "cortical visual impairment" EXACT [Orphanet:447788]
xref: GARD:21871 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H47.6 {source="Orphanet:447788/ntbt", source="Orphanet:447788", source="MONDO:directSiblingOf"}
xref: NCIT:C35275 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:447788 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:413924001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4118" xsd:anyURI
is_obsolete: true
consider: HP:0100704

[Term]
id: MONDO:0018650
name: obsolete hemochromatosis type 5
is_obsolete: true
replaced_by: MONDO:0014225

[Term]
id: MONDO:0018651
name: obsolete lipoyl transferase 2 deficiency
comment: This is a biological anomaly and not a disease.
subset: ordo_biological_anomaly {source="Orphanet:447795"}
subset: ordo_disorder {source="Orphanet:447795"}
xref: GARD:21872 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:447795 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018652
name: obsolete biological anomaly without phenotypic characterization
comment: This is a biological anomaly and not a disease.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:447874"}
xref: GARD:21873 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:447874 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018653
name: Polymerase proofreading-related adenomatous polyposis
subset: gard_rare {source="GARD:17772", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:447877"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Polymerase proofreading-related adenomatous polyposis" EXACT CLINGEN_LABEL []
synonym: "PPAP" EXACT ABBREVIATION [Orphanet:447877]
xref: GARD:17772 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:447877", source="Orphanet:447877/attributed", source="Orphanet:447877/ntbt"}
xref: MEDGEN:51342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C162484 {source="MONDO:equivalentTo"}
xref: Orphanet:447877 {source="MONDO:equivalentTo"}
xref: UMLS:C0130294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:51342"}
is_a: MONDO:0016362 {source="Orphanet:447877"} ! attenuated familial adenomatous polyposis

[Term]
id: MONDO:0018654
name: idiopathic dropped head syndrome
subset: gard_rare {source="GARD:21874", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:447881"}
subset: ordo_disorder {source="Orphanet:447881"}
subset: orphanet_rare {source="Orphanet:447881"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated neck extensor myopathy" EXACT [Orphanet:447881]
xref: EFO:1001987 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21874 {source="MONDO:GARD"}
xref: Orphanet:447881 {source="MONDO:equivalentTo"}
is_a: MONDO:0016105 {source="Orphanet:447881"} ! acquired skeletal muscle disease
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018655
name: hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
subset: gard_rare {source="GARD:17773", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:447893"}
subset: rare
xref: GARD:17773 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:447893/attributed", source="Orphanet:447893/ntbt", source="Orphanet:447893"}
xref: MEDGEN:1842862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200583 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201295 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:447893 {source="MONDO:equivalentTo"}
xref: UMLS:C5681201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842862"}
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0011897 {source="https://orcid.org/0000-0001-5208-3432"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

[Term]
id: MONDO:0018656
name: tremor-ataxia-central hypomyelination syndrome
subset: gard_rare {source="GARD:17774", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:447896"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TACH syndrome" EXACT [Orphanet:447896]
xref: GARD:17774 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:447896", source="Orphanet:447896/attributed", source="Orphanet:447896/ntbt"}
xref: MEDGEN:1842823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:447896 {source="MONDO:equivalentTo"}
xref: UMLS:C5680067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842823"}
is_a: MONDO:0004884 ! eye degenerative disorder
is_a: MONDO:0100309 {source="Orphanet:447896"} ! hereditary ataxia
relationship: excluded_subClassOf MONDO:0011897 {source="https://orcid.org/0000-0001-5208-3432"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

[Term]
id: MONDO:0018657
name: pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
subset: gard_rare {source="GARD:17776", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447961"}
subset: orphanet_rare {source="Orphanet:447961"}
subset: rare
synonym: "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA" RELATED [OMIM:618373]
synonym: "CAPOK" RELATED ABBREVIATION [OMIM:618373]
xref: GARD:17776 {source="MONDO:GARD"}
xref: MEDGEN:1807813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618373 {source="MONDO:equivalentTo"}
xref: Orphanet:447961 {source="MONDO:equivalentTo", source="OMIM:618373"}
xref: UMLS:C5681108 {source="MEDGEN:1807813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618373"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:447961", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
relationship: excluded_subClassOf MONDO:0019287 {source="Orphanet:447961", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome
relationship: excluded_subClassOf MONDO:0019288 {source="Orphanet:447961", source="https://orcid.org/0000-0001-5208-3432"} ! skin pigmentation disorder
relationship: excluded_subClassOf MONDO:0021034 {source="Orphanet:447961", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary alopecia
relationship: has_characteristic HP:0000007 {source="Orphanet:447961"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0018658
name: 19p13.3 microduplication syndrome
def: "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." [Orphanet:447980]
subset: gard_rare {source="GARD:21875", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:447980"}
subset: ordo_malformation_syndrome {source="Orphanet:447980"}
subset: orphanet_rare {source="Orphanet:447980"}
subset: rare
synonym: "dup(19)(p13.13)" EXACT [Orphanet:447980]
xref: GARD:21875 {source="MONDO:GARD"}
xref: MEDGEN:1807189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:447980 {source="MONDO:equivalentTo"}
xref: UMLS:C5679996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807189"}
is_a: MONDO:0015159 {source="Orphanet:447980"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018659 {source="Orphanet:447980"} ! partial duplication of the short arm of chromosome 19
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr19p13.3 ! 19p13.3 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:447980", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0018659
name: partial duplication of the short arm of chromosome 19
subset: disease_grouping
subset: gard_rare {source="GARD:21876", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:447985"}
subset: rare
synonym: "partial duplication of chromosome 19p" EXACT [Orphanet:447985]
synonym: "partial duplication of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:447985]
synonym: "partial trisomy of chromosome 19p" EXACT [Orphanet:447985]
synonym: "partial trisomy of the short arm of chromosome 19" EXACT [Orphanet:447985]
xref: GARD:21876 {source="MONDO:GARD"}
xref: MEDGEN:1380854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:447985 {source="MONDO:equivalentTo"}
xref: UMLS:C4518508 {source="MONDO:equivalentTo", source="MEDGEN:1380854", source="MONDO:MEDGEN"}
is_a: MONDO:0016937 {source="Orphanet:447985"} ! partial duplication of chromosome 19
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr19p ! 19p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0018660
name: hemophilia
def: "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency." [Orphanet:448]
subset: disease_grouping
subset: gard_rare {source="GARD:10418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemophilia" EXACT CLINGEN_LABEL []
xref: GARD:10418 {source="MONDO:GARD"}
xref: MedDRA:10061992 {source="Orphanet:448", source="Orphanet:448/e"}
xref: MEDGEN:146334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3093 {source="MONDO:equivalentTo"}
xref: Orphanet:448 {source="MONDO:equivalentTo"}
xref: SCTID:90935002 {source="MONDO:equivalentTo"}
xref: UMLS:C0684275 {source="MONDO:equivalentTo", source="MEDGEN:146334", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="NCIT:C3093"} ! coagulation protein disease
relationship: excluded_subClassOf MONDO:0019039 {source="Orphanet:448", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect

[Term]
id: MONDO:0018661
name: Zika virus infectious disease
def: "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy." [Orphanet:448237]
subset: gard_rare {source="GARD:12894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:448237"}
subset: orphanet_rare {source="Orphanet:448237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital Zika syndrome" NARROW [MESH:D000071243]
synonym: "congenital Zika virus infection" NARROW [MESH:D000071243]
synonym: "fever, Zika" RELATED [MESH:D000071243]
synonym: "Zika" EXACT [NCIT:C128423]
synonym: "Zika fever" RELATED [DOID:0060478, GARD:0012894]
synonym: "Zika virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Zika virus disease" EXACT [DOID:0060478, GARD:0012894]
synonym: "Zika virus disease or disorder" EXACT []
synonym: "Zika virus infection" EXACT [Orphanet:448237]
synonym: "Zika virus infectious disease" EXACT []
synonym: "ZikV infection" EXACT [MESH:D000071243]
xref: DOID:0060478 {source="MONDO:equivalentTo"}
xref: GARD:12894 {source="MONDO:GARD"}
xref: ICD10CM:A92.5 {source="MONDO:equivalentTo"}
xref: ICD10CM:A92.8 {source="GARD:0012894", source="DOID:0060478"}
xref: icd11.foundation:1401438580 {source="Orphanet:448237", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:547236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000071243 {source="MONDO:equivalentTo", source="DOID:0060478"}
xref: NCIT:C128423 {source="MONDO:equivalentTo"}
xref: Orphanet:448237 {source="MONDO:equivalentTo"}
xref: SCTID:3928002 {source="MONDO:equivalentTo"}
xref: UMLS:C0276289 {source="MEDGEN:547236", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:0060478", source="MESH:D000071243/inferred", source="MONDO:Redundant", source="NCIT:C128423", source="Orphanet:448237"} ! viral infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:64320 ! disease has primary infectious agent Zika virus
relationship: disease_has_feature HP:0000509 {source="MONDO:Wikidata"} ! Conjunctivitis
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature MONDO:0003799 {source="MONDO:Wikidata"} ! conjunctivitis
relationship: disease_has_infectious_agent NCBITaxon:64320 {source="MONDO:Wikidata"} ! Zika virus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare

[Term]
id: MONDO:0018662
name: autosomal recessive brachyolmia
def: "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." [Orphanet:448242]
subset: gard_rare {source="GARD:13171", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:448242"}
subset: ordo_malformation_syndrome {source="Orphanet:448242"}
subset: orphanet_rare {source="Orphanet:448242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachyolmia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "brachyolmia, Hobaek/Toledo type" EXACT [Orphanet:448242]
xref: GARD:13171 {source="MONDO:GARD"}
xref: ICD10CM:Q76.3 {source="Orphanet:448242/attributed", source="Orphanet:448242/ntbt", source="Orphanet:448242"}
xref: MEDGEN:1675807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:448242 {source="MONDO:equivalentTo"}
xref: UMLS:C4760908 {source="MEDGEN:1675807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015262 {source="MONDO:Redundant", source="Orphanet:448242"} ! brachyolmia
intersection_of: MONDO:0015262 ! brachyolmia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0018663
name: regressive spondylometaphyseal dysplasia
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17782", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:448267"}
subset: ordo_malformation_syndrome {source="Orphanet:448267"}
subset: orphanet_rare {source="Orphanet:448267"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Pelger-Huet anomaly with mild skeletal anomalies" EXACT [OMIM:618019, OMIM:genemap2]
synonym: "regressive spondylometaphyseal dysplasia" EXACT CLINGEN_LABEL []
xref: GARD:17782 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:448267/attributed", source="Orphanet:448267/ntbt", source="Orphanet:448267"}
xref: MEDGEN:1648288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618019 {source="MONDO:equivalentTo"}
xref: Orphanet:448267 {source="MONDO:equivalentTo"}
xref: UMLS:C4747922 {source="MEDGEN:1648288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="Orphanet:448267"} ! spondylometaphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0018664
name: ectopia cordis
def: "A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations." [NCIT:C111643]
subset: gard_rare {source="GARD:21877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:448270"}
subset: ordo_morphological_anomaly {source="Orphanet:448270"}
subset: orphanet_rare {source="Orphanet:448270"}
subset: rare
synonym: "ectopia cordis" EXACT [MONDO:ambiguous]
synonym: "ectopia cordis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:21877 {source="MONDO:GARD"}
xref: HP:0001683 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q24.8 {source="Orphanet:448270/ntbt", source="Orphanet:448270"}
xref: icd11.foundation:285576893 {source="Orphanet:448270", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:746.87 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:41703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054083 {source="MONDO:equivalentTo"}
xref: NCIT:C111643 {source="MONDO:equivalentTo"}
xref: Orphanet:448270 {source="MONDO:equivalentTo"}
xref: SCTID:78250005 {source="MONDO:equivalentTo"}
xref: UMLS:C0013580 {source="MONDO:equivalentTo", source="MEDGEN:41703", source="MONDO:MEDGEN"}
is_a: MONDO:0019512 {source="Orphanet:448270"} ! congenital heart malformation
is_a: MONDO:0024239 {source="NCIT:C111643"} ! congenital anomaly of cardiovascular system
property_value: IAO:0000589 "ectopia cordis (disease)" xsd:string

[Term]
id: MONDO:0018665
name: obsolete X-linked acrogigantism due to a point mutation
subset: ordo_etiological_subtype {source="Orphanet:448348"}
synonym: "familial infantile gigantism due to a point mutation" EXACT [Orphanet:448348]
synonym: "X-LAG (X-linked acrogigantism) due to a point mutation" EXACT [Orphanet:448348]
xref: ICD10CM:E22.0 {source="Orphanet:448348", source="Orphanet:448348/attributed", source="Orphanet:448348/ntbt"}
xref: Orphanet:448348 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6567" xsd:anyURI
is_obsolete: true
consider: MONDO:0010491

[Term]
id: MONDO:0018666
name: hepatoblastoma
def: "Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy." [Orphanet:449]
subset: gard_rare {source="GARD:2657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:449"}
subset: orphanet_rare {source="Orphanet:449"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HBL" EXACT ABBREVIATION [DOID:687, NCIT:C3728]
synonym: "hepatoblastoma" EXACT [NCIT:C3728]
synonym: "hepatoblastoma, malignant" EXACT [NCIT:C3728]
synonym: "paediatric embryonal hepatoma" EXACT OMO:0003005 []
synonym: "paediatric hepatoblastoma" EXACT OMO:0003005 []
synonym: "pediatric embryonal hepatoma" EXACT [NCIT:C3728]
synonym: "pediatric hepatoblastoma" EXACT [NCIT:C3728]
xref: DOID:687 {source="MONDO:equivalentTo"}
xref: EFO:1000292 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:2657 {source="MONDO:GARD"}
xref: ICD10CM:C22.2 {source="DOID:687", source="Orphanet:449", source="Orphanet:449/e"}
xref: icd11.foundation:1556608523 {source="Orphanet:449", source="MONDO:equivalentTo"}
xref: ICDO:8970/3 {source="NCIT:C3728"}
xref: MedDRA:10062001 {source="Orphanet:449", source="Orphanet:449/e"}
xref: MEDGEN:61644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018197 {source="DOID:687", source="Orphanet:449", source="MONDO:equivalentTo", source="Orphanet:449/e"}
xref: NANDO:2200046 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3728 {source="DOID:687", source="MONDO:equivalentTo", source="EFO:1000292"}
xref: ONCOTREE:LIHB {source="MONDO:equivalentTo"}
xref: Orphanet:449 {source="MONDO:equivalentTo"}
xref: SCTID:109843000 {source="DOID:687"}
xref: SCTID:45024009 {source="DOID:687"}
xref: UMLS:C0206624 {source="MEDGEN:61644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005564 {source="EFO:1000292", source="NCIT:C3728"} ! embryonal neoplasm
is_a: MONDO:0007256 ! hepatocellular carcinoma

[Term]
id: MONDO:0018667
name: pleural empyema
def: "The presence of pus in the thoracic cavity, between the visceral and parietal pleura." [NCIT:P378]
subset: gard_rare {source="GARD:21879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:449266"}
subset: ordo_disorder {source="Orphanet:449266"}
subset: orphanet_rare {source="Orphanet:449266"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abscess of pleural cavity" EXACT [DOID:3798]
synonym: "abscess of thorax" RELATED [DOID:3798]
synonym: "empyema" RELATED [DOID:3798]
synonym: "empyema of pleura" EXACT [DOID:3798]
synonym: "pleural empyema" EXACT [MONDO:ambiguous]
synonym: "pleural empyema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "purulent pleurisy" RELATED [DOID:3798]
synonym: "purulent pleuritis" RELATED [DOID:3798]
synonym: "pyothorax" RELATED [DOID:3798]
synonym: "thorax abscess" RELATED [DOID:3798]
xref: DOID:3798 {source="MONDO:equivalentTo"}
xref: EFO:0009680 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21879 {source="MONDO:GARD"}
xref: HP:0011919 {source="MONDO:otherHierarchy"}
xref: ICD10CM:J86 {source="DOID:3798"}
xref: ICD10CM:J86.9 {source="DOID:3798"}
xref: MEDGEN:4928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016724 {source="MONDO:equivalentTo", source="DOID:3798"}
xref: NCIT:C45692 {source="DOID:3798"}
xref: Orphanet:449266 {source="MONDO:equivalentTo"}
xref: SCTID:155604003 {source="DOID:3798"}
xref: SCTID:196058009 {source="DOID:3798"}
xref: SCTID:196068004 {source="DOID:3798"}
xref: SCTID:196069007 {source="DOID:3798"}
xref: SCTID:196070008 {source="DOID:3798"}
xref: SCTID:196071007 {source="DOID:3798"}
xref: SCTID:196072000 {source="DOID:3798"}
xref: SCTID:196074004 {source="DOID:3798"}
xref: SCTID:271502000 {source="DOID:3798"}
xref: SCTID:271506002 {source="DOID:3798"}
xref: SCTID:405950009 {source="MONDO:equivalentTo", source="DOID:3798"}
xref: SCTID:405951008 {source="DOID:3798"}
xref: SCTID:58554001 {source="DOID:3798"}
xref: SCTID:69947005 {source="DOID:3798"}
xref: SCTID:75952005 {source="DOID:3798"}
xref: UMLS:C0014013 {source="MEDGEN:4928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002037 {source="DOID:3798"} ! pleural disorder
is_a: MONDO:0005087 {source="Orphanet:449266"} ! respiratory system disorder
property_value: IAO:0000589 "pleural empyema (disease)" xsd:string

[Term]
id: MONDO:0018668
name: scedosporiosis
subset: gard_rare {source="GARD:21880", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:449280"}
subset: orphanet_rare {source="Orphanet:449280"}
subset: rare
xref: GARD:21880 {source="MONDO:GARD"}
xref: icd11.foundation:807637046 {source="Orphanet:449280", source="MONDO:equivalentTo"}
xref: MEDGEN:1713603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000656924 {source="MONDO:equivalentTo"}
xref: Orphanet:449280 {source="MONDO:equivalentTo"}
xref: UMLS:C1142170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713603"}
is_a: MONDO:0002041 {source="Orphanet:449280"} ! fungal infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare

[Term]
id: MONDO:0018669
name: snakebite envenomation
subset: gard_rare {source="GARD:21881", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:449285"}
subset: ordo_disorder {source="Orphanet:449285"}
subset: orphanet_rare {source="Orphanet:449285"}
subset: rare
synonym: "poisoning by venomous snake" EXACT []
synonym: "poisoning caused by venomous snake" RELATED []
synonym: "snake bite poisoning" RELATED []
synonym: "snake venom causing toxic effect" RELATED []
synonym: "snake venom poisoning" RELATED []
synonym: "toxic effect of bite of venomous snake" RELATED []
xref: GARD:21881 {source="MONDO:GARD"}
xref: ICD10CM:T63.0 {source="Orphanet:449285", source="Orphanet:449285/e"}
xref: Orphanet:449285 {source="MONDO:equivalentTo"}
xref: SCTID:61288004 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:449285"} ! poisoning
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0018670
name: symptomatic form of fragile X syndrome in female carrier
subset: gard_rare {source="GARD:17783", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:449291"}
subset: orphanet_rare {source="Orphanet:449291"}
subset: rare
xref: GARD:17783 {source="MONDO:GARD"}
xref: ICD10CM:Q99.2 {source="Orphanet:449291", source="Orphanet:449291/attributed", source="Orphanet:449291/ntbt"}
xref: MEDGEN:1814467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:449291 {source="MONDO:equivalentTo"}
xref: UMLS:C5681104 {source="MEDGEN:1814467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010383 {source="https://orcid.org/0000-0001-5208-3432"} ! fragile X syndrome
is_a: MONDO:0019852 {source="Orphanet:449291"} ! inherited primary ovarian failure

[Term]
id: MONDO:0018671
name: IgG4-related kidney disease
subset: gard_rare {source="GARD:21882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:449395"}
subset: rare
xref: GARD:21882 {source="MONDO:GARD"}
xref: ICD10CM:N11.8 {source="Orphanet:449395", source="Orphanet:449395/ntbt"}
xref: MEDGEN:1708840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200930 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:449395 {source="MONDO:equivalentTo"}
xref: UMLS:C5392056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1708840"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0017287 {source="Orphanet:449395"} ! IgG4-related disease
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:449395", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0018672
name: IgG4-related aortitis
subset: gard_rare {source="GARD:21883", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:449400"}
subset: rare
synonym: "IgG4-related periaortitis" EXACT [Orphanet:449400]
xref: GARD:21883 {source="MONDO:GARD"}
xref: ICD10CM:I77.6 {source="Orphanet:449400/ntbt", source="Orphanet:449400"}
xref: MEDGEN:1800431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:449400 {source="MONDO:equivalentTo"}
xref: UMLS:C5569008 {source="MEDGEN:1800431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017287 {source="Orphanet:449400"} ! IgG4-related disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare

[Term]
id: MONDO:0018673
name: IgG4-related pachymeningitis
def: "Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment." [GARD:0013256]
subset: gard_rare {source="GARD:13256", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:449427"}
subset: rare
synonym: "idiopathic hypertrophic cranial pachymeningitis" RELATED [GARD:0013256]
synonym: "idiopathic hypertrophic craniospinal pachymeningitis" RELATED [GARD:0013256]
synonym: "idiopathic hypertrophic pachymeningitis" EXACT [Orphanet:449427]
synonym: "idiopathic hypertrophic spinal pachymeningitis" RELATED [GARD:0013256]
xref: GARD:13256 {source="MONDO:GARD"}
xref: ICD10CM:G03.9 {source="Orphanet:449427/ntbt", source="Orphanet:449427"}
xref: MEDGEN:1627405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:449427 {source="MONDO:equivalentTo"}
xref: SCTID:762282007 {source="MONDO:equivalentTo"}
xref: UMLS:C4545992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1627405"}
is_a: MONDO:0017287 {source="Orphanet:449427"} ! IgG4-related disease
is_a: MONDO:0021166 {source="https://orcid.org/0000-0001-5208-3432"} ! inflammatory disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0018674
name: IgG4-related submandibular gland disease
def: "A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones." [NCIT:C82887]
comment: Editor note: check this. Unification based on Kuttner tumor synonym
subset: gard_rare {source="GARD:21884", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:449432"}
subset: rare
synonym: "chronic sclerosing sialadenitis" EXACT [NCIT:C82887]
synonym: "IgG4-related sialadenitis" EXACT [Orphanet:449432]
synonym: "Kuttner tumor" EXACT [NCIT:C82887]
synonym: "Kuttner tumour" EXACT OMO:0003005 []
synonym: "Kuttner's tumor" EXACT [NCIT:C82887]
synonym: "Kuttner's tumour" EXACT OMO:0003005 []
synonym: "Küttner tumor" EXACT [Orphanet:449432]
synonym: "Küttner tumour" EXACT OMO:0003005 []
xref: GARD:21884 {source="MONDO:GARD"}
xref: ICD10CM:K11.2 {source="Orphanet:449432/ntbt", source="Orphanet:449432"}
xref: MEDGEN:1830092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C82887 {source="MONDO:equivalentTo"}
xref: Orphanet:449432 {source="MONDO:equivalentTo"}
xref: SCTID:448131008 {source="MONDO:equivalentTo"}
xref: UMLS:C5679995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830092"}
is_a: MONDO:0017287 {source="Orphanet:449432"} ! IgG4-related disease
is_a: MONDO:0024623 {source="Orphanet:449432"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare

[Term]
id: MONDO:0018675
name: IgG4-related ophthalmic disorder
def: "A IgG4-related disease that involves the eye." [MONDO:patterns/location]
subset: gard_rare {source="GARD:21885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:449563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eye IgG4-related disease" EXACT [MONDO:patterns/location]
synonym: "IgG4-related disease of eye" EXACT []
xref: GARD:21885 {source="MONDO:GARD"}
xref: ICD10CM:H05.1 {source="Orphanet:449563", source="Orphanet:449563/ntbt"}
xref: MEDGEN:1800432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:449563 {source="MONDO:equivalentTo"}
xref: UMLS:C5569009 {source="MEDGEN:1800432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder
is_a: MONDO:0017287 {source="Orphanet:449563"} ! IgG4-related disease
intersection_of: MONDO:0017287 ! IgG4-related disease
intersection_of: disease_has_location UBERON:0000970 ! eye

[Term]
id: MONDO:0018676
name: eosinophilic angiocentric fibrosis
subset: gard_rare {source="GARD:21886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:449566"}
subset: orphanet_rare {source="Orphanet:449566"}
subset: rare
synonym: "EAF" RELATED ABBREVIATION [GARD:0002032]
synonym: "eosinophilic angiocentric fibrosis" EXACT [GARD:0002032]
synonym: "IgG4-related eosinophilic angiocentric fibrosis" EXACT [Orphanet:449566]
synonym: "Sinonasal eosinophilic angiocentric fibrosis" RELATED [GARD:0002032]
xref: GARD:21886 {source="MONDO:GARD"}
xref: ICD10CM:J39.8 {source="Orphanet:449566/ntbt", source="Orphanet:449566"}
xref: MEDGEN:1814179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:449566 {source="MONDO:equivalentTo"}
xref: UMLS:C5578050 {source="MEDGEN:1814179", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017287 {source="Orphanet:449566"} ! IgG4-related disease
is_a: MONDO:0024623 {source="Orphanet:449566"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2032/eaf" xsd:anyURI {source="GARD:0002032"}

[Term]
id: MONDO:0018677
name: visceral heterotaxy
def: "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." [NCIT:C117273]
subset: disease_grouping
subset: gard_rare {source="GARD:10875", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:157769"}
subset: ordo_group_of_disorders {source="Orphanet:450"}
subset: ordo_morphological_anomaly {source="Orphanet:157769"}
subset: orphanet_rare {source="Orphanet:157769"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "heterotaxia" EXACT [DOID:0050545]
synonym: "heterotaxia syndrome" EXACT [NCIT:C117273]
synonym: "heterotaxy syndrome" EXACT [Orphanet:450]
synonym: "heterotaxy, visceral" EXACT [OMIMPS:306955]
synonym: "incomplete situs inversus" EXACT [Orphanet:157769]
synonym: "lateralization defect" EXACT [Orphanet:450]
synonym: "partial situs inversus" EXACT [Orphanet:157769]
synonym: "situs ambiguous" EXACT [Orphanet:157769]
synonym: "situs ambiguus" EXACT [DOID:0050545, MONDO:0015522]
synonym: "visceral heterotaxy" EXACT [Orphanet:450]
xref: DOID:0050545 {source="MONDO:equivalentTo"}
xref: GARD:10875 {source="MONDO:GARD"}
xref: ICD10CM:Q89.3 {source="Orphanet:157769", source="Orphanet:450/nd", source="Orphanet:450", source="Orphanet:157769/attributed", source="Orphanet:157769/ntbt"}
xref: MedDRA:10059119 {source="Orphanet:157769", source="Orphanet:157769/e"}
xref: MedDRA:10067265 {source="Orphanet:450/e", source="Orphanet:450"}
xref: MEDGEN:465273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117273 {source="MONDO:equivalentTo"}
xref: OMIMPS:306955 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:157769 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:450 {source="MONDO:equivalentTo", source="DOID:0050545"}
xref: SCTID:14821001 {source="MONDO:equivalentTo"}
xref: UMLS:C3178805 {source="MEDGEN:465273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C117273"} ! syndromic disease
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:306955"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2826" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0018678
name: polyclonal hyperviscosity syndrome
subset: gard_rare {source="GARD:21887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:450322"}
subset: ordo_disorder {source="Orphanet:450322"}
subset: orphanet_rare {source="Orphanet:450322"}
subset: rare
xref: GARD:21887 {source="MONDO:GARD"}
xref: ICD10CM:D89.0 {source="MONDO:relatedTo", source="Orphanet:450322", source="Orphanet:450322/ntbt"}
xref: MEDGEN:1814466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:450322 {source="MONDO:equivalentTo"}
xref: UMLS:C5681102 {source="MEDGEN:1814466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="Orphanet:450322"} ! hematologic disorder

[Term]
id: MONDO:0018679
name: primary cutaneous plasmacytosis
subset: gard_rare {source="GARD:21888", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:451602"}
subset: orphanet_rare {source="Orphanet:451602"}
subset: rare
xref: GARD:21888 {source="MONDO:GARD"}
xref: ICD10CM:L98.6 {source="Orphanet:451602/ntbt", source="Orphanet:451602"}
xref: icd11.foundation:1669369613 {source="MONDO:equivalentTo", source="Orphanet:451602"}
xref: MEDGEN:1672491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:451602 {source="MONDO:equivalentTo"}
xref: UMLS:C4736227 {source="MEDGEN:1672491", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
is_a: MONDO:0017287 {source="Orphanet:451602"} ! IgG4-related disease

[Term]
id: MONDO:0018680
name: cutaneous pseudolymphoma
def: "A pseudolymphoma of the skin." [NCIT:C62776]
subset: gard_rare {source="GARD:21889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:451607"}
subset: orphanet_rare {source="Orphanet:451607"}
subset: rare
synonym: "lymphadenosis Benigna cutis" EXACT [NCIT:C62776]
synonym: "lymphocytoma cutis" EXACT [NCIT:C62776]
synonym: "pseudolymphoma of Spiegler" EXACT [NCIT:C62776]
xref: GARD:21889 {source="MONDO:GARD"}
xref: ICD10CM:L98.6 {source="Orphanet:451607/ntbt", source="Orphanet:451607"}
xref: MEDGEN:81385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C62776 {source="MONDO:equivalentTo"}
xref: Orphanet:451607 {source="MONDO:equivalentTo"}
xref: SCTID:128862000 {source="MONDO:equivalentTo"}
xref: UMLS:C0311220 {source="MEDGEN:81385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
is_a: MONDO:0017287 {source="Orphanet:451607"} ! IgG4-related disease

[Term]
id: MONDO:0018681
name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17785", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:453499"}
subset: ordo_malformation_syndrome {source="Orphanet:453499"}
subset: orphanet_rare {source="Orphanet:453499"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome" EXACT CLINGEN_LABEL []
xref: GARD:17785 {source="MONDO:GARD"}
xref: Orphanet:453499 {source="MONDO:equivalentTo"}
is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder
is_a: MONDO:0015159 {source="Orphanet:453499"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:453499", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0018682
name: congenital insensitivity to pain with severe intellectual disability
subset: gard_rare {source="GARD:21890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:453510"}
subset: orphanet_rare {source="Orphanet:453510"}
subset: rare
synonym: "congenital absence of pain with severe intellectual disability" EXACT [Orphanet:453510]
synonym: "congenital analgesia with severe intellectual disability" EXACT [Orphanet:453510]
synonym: "congenital insensitivity to pain with preserved temperature sensation" EXACT [Orphanet:453510]
synonym: "congenital insensitivity to pain with severe non-progressive cognitive delay" EXACT [Orphanet:453510]
xref: GARD:21890 {source="MONDO:GARD"}
xref: MEDGEN:1814444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:453510 {source="MONDO:equivalentTo"}
xref: UMLS:C5679994 {source="MEDGEN:1814444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-4142-7153"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:453510", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018683
name: acquired ichthyosis
def: "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications." [PMID:20643494]
subset: gard_rare {source="GARD:476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454"}
subset: orphanet_rare {source="Orphanet:454"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired ichthyosis" EXACT [NCIT:C112831]
synonym: "acquired ichthyosis (disease)" EXACT [MONDO:patterns/acquired]
synonym: "fish scale disease, acquired" RELATED [GARD:0000476]
synonym: "ichthyosis acquisita" EXACT [GARD:0000476, NCIT:C112831]
synonym: "ichthyosis, acquired" RELATED [GARD:0000476]
xref: GARD:476 {source="MONDO:GARD"}
xref: ICD10CM:L85.0 {source="Orphanet:454/e", source="MONDO:equivalentTo", source="Orphanet:454"}
xref: icd11.foundation:1504032289 {source="MONDO:equivalentTo", source="Orphanet:454"}
xref: MEDGEN:78092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538175 {source="MONDO:equivalentTo"}
xref: NCIT:C112831 {source="MONDO:equivalentTo"}
xref: Orphanet:454 {source="MONDO:equivalentTo"}
xref: SCTID:8691004 {source="MONDO:equivalentTo"}
xref: UMLS:C0263386 {source="MEDGEN:78092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019269 {source="MESH:C538175", source="MONDO:Redundant", source="NCIT:C112831/inferred", source="Orphanet:454"} ! ichthyosis
intersection_of: MONDO:0019269 ! ichthyosis
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0024304 {source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis vulgaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/476/ichthyosis-acquired" xsd:anyURI {source="GARD:0000476"}

[Term]
id: MONDO:0018684
name: idiopathic neonatal atrial flutter
def: "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." [Orphanet:45452]
subset: gard_rare {source="GARD:18831", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:45452"}
subset: orphanet_rare {source="Orphanet:45452"}
subset: rare
synonym: "neonatal cardiac dysrhythmia" EXACT [ICD10CM:P29.1]
xref: GARD:18831 {source="MONDO:GARD"}
xref: ICD10CM:P29.1 {source="MONDO:equivalentTo", source="Orphanet:45452/ntbt", source="Orphanet:45452"}
xref: MEDGEN:904097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:45452 {source="MONDO:equivalentTo"}
xref: SCTID:715560009 {source="MONDO:equivalentTo"}
xref: UMLS:C4275090 {source="MONDO:equivalentTo", source="MEDGEN:904097", source="MONDO:MEDGEN"}
is_a: MONDO:0005310 {source="https://orcid.org/0000-0001-5208-3432"} ! atrial flutter
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0018685
name: incessant infant ventricular tachycardia
def: "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." [Orphanet:45453]
subset: gard_rare {source="GARD:18832", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:45453"}
subset: orphanet_rare {source="Orphanet:45453"}
subset: rare
xref: GARD:18832 {source="MONDO:GARD"}
xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="Orphanet:45453/ntbt", source="Orphanet:45453"}
xref: MEDGEN:573762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:45453 {source="MONDO:equivalentTo"}
xref: SCTID:233908008 {source="MONDO:equivalentTo"}
xref: UMLS:C0340487 {source="MEDGEN:573762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007263 {source="https://orcid.org/0000-0002-3458-4839"} ! cardiac rhythm disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0018686
name: acquired Creutzfeldt-Jakob disease
alt_id: MONDO:0025169
def: "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="GARD:17788", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:454700"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired CJD" EXACT [MESH:C538481]
synonym: "acquired Creutzfeldt Jacob disease" EXACT [MONDO:patterns/acquired]
synonym: "sporadic CJD" RELATED [MESH:C538481]
xref: GARD:17788 {source="MONDO:GARD"}
xref: ICD10CM:A81.0 {source="Orphanet:454700", source="Orphanet:454700/ntbt"}
xref: MEDGEN:1826177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538481 {source="MONDO:equivalentTo"}
xref: NANDO:1200192 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:454700 {source="MONDO:equivalentTo"}
xref: UMLS:C5681100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826177"}
is_a: MONDO:0005357 {source="MESH:C538481", source="MONDO:Redundant"} ! Creutzfeldt Jacob disease
intersection_of: MONDO:0005357 ! Creutzfeldt Jacob disease
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0025149 {source="MESH:C538481", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, bovine spongiform

[Term]
id: MONDO:0018687
name: progressive muscular atrophy
def: "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation." [NCIT:P378]
subset: gard_rare {source="GARD:21891", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454706"}
subset: orphanet_rare {source="Orphanet:454706"}
subset: rare
synonym: "PMA" EXACT ABBREVIATION [Orphanet:454706]
synonym: "progressive spinal muscular atrophy" EXACT [DOID:318]
synonym: "pure progressive muscular atrophy" RELATED [DOID:318]
xref: DOID:318 {source="MONDO:equivalentTo"}
xref: GARD:21891 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:454706/ntbt", source="Orphanet:454706"}
xref: ICD10CM:G12.21 {source="DOID:318"}
xref: icd11.foundation:1282359533 {source="MONDO:equivalentTo", source="Orphanet:454706"}
xref: ICD9:335.21 {source="DOID:318", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:906831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009134 {source="DOID:318", source="MONDO:directSiblingOf"}
xref: NCIT:C85027 {source="DOID:318", source="MONDO:equivalentTo"}
xref: Orphanet:454706 {source="MONDO:equivalentTo"}
xref: SCTID:88923002 {source="DOID:318", source="MONDO:equivalentTo"}
xref: UMLS:C4082951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906831"}
is_a: MONDO:0002545 {source="DOID:318", source="MONDO:Redundant", source="MONDO:indirect"} ! spinal cord disorder
is_a: MONDO:0004976 {source="NCIT:C85027"} ! amyotrophic lateral sclerosis
is_a: MONDO:0005559 {source="MONDO:Redundant", source="Orphanet:454706"} ! neurodegenerative disease
is_a: MONDO:0020128 {source="DOID:318", source="MONDO:Redundant", source="Orphanet:454706"} ! motor neuron disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare

[Term]
id: MONDO:0018688
name: anti-p200 pemphigoid
subset: gard_rare {source="GARD:21892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454710"}
subset: orphanet_rare {source="Orphanet:454710"}
subset: rare
xref: GARD:21892 {source="MONDO:GARD"}
xref: ICD10CM:L12.8 {source="Orphanet:454710/ntbt", source="Orphanet:454710"}
xref: MEDGEN:1802806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:454710 {source="MONDO:equivalentTo"}
xref: UMLS:C5681099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802806"}
is_a: MONDO:0019337 {source="EFO:0008597/inferred", source="Orphanet:454710"} ! autoimmune bullous skin disease

[Term]
id: MONDO:0018689
name: plasma cell leukemia
def: "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." [NCIT:C3180]
subset: gard_rare {source="GARD:9373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454714"}
subset: orphanet_rare {source="Orphanet:454714"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "leukaemia plasmacytic" EXACT OMO:0003005 []
synonym: "leukemia plasmacytic" EXACT [NCIT:C3180]
synonym: "leukemia, plasma cell" RELATED [GARD:0009373]
synonym: "PCL" EXACT ABBREVIATION [Orphanet:454714]
synonym: "plasma cell leukemia" EXACT [NCIT:C3180]
synonym: "plasmacytic leukaemia" EXACT OMO:0003005 []
synonym: "plasmacytic leukemia" EXACT [NCIT:C3180]
xref: DOID:9513 {source="MONDO:equivalentTo", source="EFO:0006475"}
xref: EFO:0006475 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9373 {source="MONDO:GARD"}
xref: ICD10CM:C90.1 {source="DOID:9513", source="Orphanet:454714", source="Orphanet:454714/e"}
xref: ICD10CM:C90.10 {source="DOID:9513"}
xref: icd11.foundation:2048216430 {source="MONDO:equivalentTo", source="Orphanet:454714", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:203.1 {source="DOID:9513", source="EFO:0006475"}
xref: ICD9:203.10 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9733/3 {source="NCIT:C3180"}
xref: MEDGEN:9733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007952 {source="DOID:9513", source="MONDO:equivalentTo"}
xref: NCIT:C3180 {source="DOID:9513", source="MONDO:equivalentTo", source="EFO:0006475"}
xref: Orphanet:454714 {source="MONDO:equivalentTo"}
xref: SCTID:128922003 {source="DOID:9513", source="EFO:0006475"}
xref: SCTID:154586003 {source="DOID:9513"}
xref: SCTID:188722001 {source="DOID:9513"}
xref: SCTID:190038002 {source="DOID:9513"}
xref: SCTID:190039005 {source="DOID:9513"}
xref: SCTID:269630009 {source="DOID:9513"}
xref: SCTID:39193004 {source="DOID:9513"}
xref: SCTID:95210003 {source="DOID:9513", source="MONDO:equivalentTo", source="EFO:0006475"}
xref: UMLS:C0023484 {source="MEDGEN:9733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004959 {source="EFO:0006475", source="MESH:D007952/inferred", source="NCIT:C3180", source="Orphanet:454714"} ! plasma cell neoplasm
is_a: MONDO:0004967 {source="DOID:9513", source="MONDO:Redundant", source="MONDO:indirect"} ! acute lymphoblastic leukemia
is_a: MONDO:0005402 {source="NCIT:C3180"} ! lymphoid leukemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia" xsd:anyURI {source="GARD:0009373"}

[Term]
id: MONDO:0018690
name: Holmes-Adie syndrome
def: "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." [NCIT:C34357]
subset: gard_rare {source="GARD:5749", source="MONDO:GARD"}
subset: nord_rare {source="NORD:735", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454718"}
subset: orphanet_rare {source="Orphanet:454718"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adie pupil" EXACT [OMIM:103100]
synonym: "Adie Syndrome" EXACT [NORD:735]
synonym: "Adie syndrome" EXACT [MONDO:0007069, OMIM:103100, Orphanet:454718]
synonym: "Adie's pupil" EXACT [GARD:0005749]
synonym: "Adie's pupil or syndrome" EXACT [DOID:11549]
synonym: "Adie's pupil syndrome" EXACT [DOID:11549]
synonym: "Adie's syndrome" EXACT [DOID:11549]
synonym: "Holmes-Adie syndrome" EXACT [DOID:11549, NCIT:C34357, OMIM:103100]
synonym: "poorly Reacting pupils" RELATED [OMIM:103100]
synonym: "tonic pupil" EXACT [NCIT:C34357]
synonym: "tonic pupil-tendon areflexia syndrome" EXACT [Orphanet:454718]
synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" RELATED [GARD:0005749]
xref: DOID:11549 {source="EFO:0004126", source="MONDO:equivalentTo"}
xref: EFO:0004126 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5749 {source="MONDO:GARD"}
xref: ICD10CM:H57.0 {source="Orphanet:454718/ntbt", source="Orphanet:454718"}
xref: MEDGEN:138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000270 {source="DOID:11549", source="EFO:0004126", source="MONDO:equivalentTo"}
xref: MESH:D015845 {source="EFO:0004126"}
xref: NCIT:C34357 {source="DOID:11549", source="MONDO:equivalentTo"}
xref: NORD:735 {source="MONDO:NORD"}
xref: OMIM:103100 {source="DOID:11549", source="EFO:0004126", source="MONDO:equivalentTo", source="Orphanet:454718/ntbt", source="Orphanet:454718"}
xref: Orphanet:454718 {source="MONDO:equivalentTo"}
xref: SCTID:123051004 {source="DOID:11549"}
xref: SCTID:24225004 {source="DOID:11549", source="MONDO:equivalentTo"}
xref: UMLS:C0001519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138"}
is_a: MONDO:0002254 {source="DOID:11549", source="NCIT:C34357"} ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0018691
name: obsolete endometrioid carcinoma of ovary
is_obsolete: true
replaced_by: MONDO:0006335

[Term]
id: MONDO:0018692
name: variably protease-sensitive prionopathy
subset: gard_rare {source="GARD:21894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454742"}
subset: orphanet_rare {source="Orphanet:454742"}
subset: rare
xref: GARD:21894 {source="MONDO:GARD"}
xref: ICD10CM:A81.8 {source="Orphanet:454742/ntbt", source="Orphanet:454742"}
xref: icd11.foundation:172957869 {source="Orphanet:454742", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:929196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:454742 {source="MONDO:equivalentTo"}
xref: SCTID:721165001 {source="MONDO:equivalentTo"}
xref: UMLS:C4303527 {source="MEDGEN:929196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0018926 {source="Orphanet:454742"} ! human prion disease
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0018693
name: obsolete kuru
is_obsolete: true
replaced_by: MONDO:0006825

[Term]
id: MONDO:0018694
name: isolated tracheo-esophageal fistula
def: "A congenital or acquired abnormal communication between the trachea and the esophagus." [NCIT:C35080]
subset: gard_rare {source="GARD:21895", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454750"}
subset: ordo_morphological_anomaly {source="Orphanet:454750"}
subset: orphanet_rare {source="Orphanet:454750"}
subset: rare
synonym: "H-type tracheoesophageal fistula" EXACT [Orphanet:454750]
synonym: "isolated tracheoesophageal fistula" RELATED [Orphanet:454750]
synonym: "tracheo-esophageal fistula" EXACT [NCIT:C35080]
synonym: "tracheoesophageal fistula" EXACT [NCIT:C35080]
xref: GARD:21895 {source="MONDO:GARD"}
xref: ICD10CM:Q39.2 {source="Orphanet:454750", source="Orphanet:454750/e"}
xref: NCIT:C35080 {source="MONDO:equivalentTo"}
xref: Orphanet:454750 {source="MONDO:equivalentTo"}
is_a: MONDO:0002567 {source="https://orcid.org/0000-0002-4142-7153"} ! tracheal disorder
is_a: MONDO:0003749 {source="https://orcid.org/0000-0001-5208-3432"} ! esophageal disorder

[Term]
id: MONDO:0018695
name: avian influenza
def: "Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry." [MESH:D005585]
subset: gard_rare {source="GARD:21897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454836"}
subset: orphanet_rare {source="Orphanet:454836"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "avian flu" EXACT [DOID:4492]
synonym: "bird flu" EXACT [DOID:4492]
xref: DOID:4492 {source="EFO:0005222", source="MONDO:equivalentTo"}
xref: EFO:0005222 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21897 {source="MONDO:GARD"}
xref: ICD10CM:J09 {source="Orphanet:454836/ntbt", source="Orphanet:454836"}
xref: ICD10CM:J09.X {source="DOID:4492"}
xref: MEDGEN:42091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005585 {source="MONDO:equivalentTo", source="DOID:4492"}
xref: Orphanet:454836 {source="MONDO:equivalentTo"}
xref: SCTID:55604004 {source="EFO:0005222", source="MONDO:equivalentTo", source="DOID:4492"}
xref: UMLS:C0016627 {source="MEDGEN:42091", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="MONDO:Redundant", source="Orphanet:454836"} ! viral infectious disease
is_a: MONDO:0005812 {source="DOID:4492", source="EFO:0005222"} ! influenza
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11320 ! disease has primary infectious agent Influenza A virus
relationship: disease_has_feature HP:0002090 ! Pneumonia
relationship: disease_has_infectious_agent NCBITaxon:11320 ! Influenza A virus
relationship: excluded_subClassOf MONDO:0005087 {source="Orphanet:454836", source="https://orcid.org/0000-0001-5208-3432"} ! respiratory system disorder

[Term]
id: MONDO:0018696
name: corticobasal syndrome
def: "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." [Orphanet:454887]
subset: gard_rare {source="GARD:13168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454887"}
subset: orphanet_rare {source="Orphanet:454887"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0081392 {source="MONDO:equivalentTo"}
xref: GARD:13168 {source="MONDO:GARD"}
xref: ICD10CM:G31.0 {source="Orphanet:454887", source="Orphanet:454887/attributed", source="Orphanet:454887/ntbt"}
xref: MEDGEN:1801322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:454887 {source="MONDO:equivalentTo"}
xref: UMLS:C5575119 {source="MEDGEN:1801322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0005559 ! neurodegenerative disease
is_a: MONDO:0015547 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary dementia
is_a: MONDO:0024237 {source="MONDO:Redundant", source="MONDO:indirect"} ! inherited neurodegenerative disorder
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: disease_has_feature HP:0002145 ! Frontotemporal dementia
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0018697
name: 1p35.2 microdeletion syndrome
subset: gard_rare {source="GARD:21898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:456298"}
subset: ordo_malformation_syndrome {source="Orphanet:456298"}
subset: orphanet_rare {source="Orphanet:456298"}
subset: rare
synonym: "Del(1)(p35.2)" EXACT [Orphanet:456298]
synonym: "deletion 1p35.2" EXACT [Orphanet:456298]
synonym: "monosomy 1p35.2" EXACT [Orphanet:456298]
xref: GARD:21898 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:456298/attributed", source="Orphanet:456298/ntbt", source="Orphanet:456298"}
xref: MEDGEN:1807819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:456298 {source="MONDO:equivalentTo"}
xref: UMLS:C5679992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807819"}
is_a: MONDO:0015159 {source="Orphanet:456298"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016883 {source="Orphanet:456298"} ! partial deletion of the short arm of chromosome 1
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1p35.2 ! 1p35.2 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0018698
name: hereditary neuroendocrine tumor of small intestine
def: "An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:21899", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:456333"}
subset: orphanet_rare {source="Orphanet:456333"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary neuroendocrine tumor of small bowel" EXACT [Orphanet:456333]
synonym: "hereditary neuroendocrine tumor of the small intestine" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary neuroendocrine tumour of small bowel" EXACT OMO:0003005 []
synonym: "hereditary neuroendocrine tumour of the small intestine" EXACT OMO:0003005 []
synonym: "hereditary small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary]
xref: GARD:21899 {source="MONDO:GARD"}
xref: MEDGEN:1826066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:456333 {source="MONDO:equivalentTo"}
xref: UMLS:C5679993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826066"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
intersection_of: MONDO:0018510 ! small intestine neuroendocrine neoplasm
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018699
name: obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:457059"}
xref: GARD:5770 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:457059 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0018700
name: obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:457062"}
xref: GARD:21900 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:457062 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0018701
name: obsolete congenital nemaline myopathy
subset: ordo_group_of_disorders {source="Orphanet:457074"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:21901 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:457074 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018702
name: Castleman-Kojima disease
def: "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly" [PMID:23801135]
subset: gard_rare {source="GARD:21902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457077"}
subset: orphanet_rare {source="Orphanet:457077"}
subset: rare
synonym: "TAFRO syndrome" EXACT [PMID:23801135]
synonym: "thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome" EXACT [Orphanet:457077]
xref: GARD:21902 {source="MONDO:GARD"}
xref: ICD10CM:M35.8 {source="Orphanet:457077/ntbt", source="Orphanet:457077"}
xref: MEDGEN:1672503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:457077 {source="MONDO:equivalentTo"}
xref: UMLS:C4552543 {source="MEDGEN:1672503", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-1780-5230"} ! autoimmune disease
relationship: disease_has_feature HP:0001541 {source="PMID:23801135"} ! Ascites
relationship: disease_has_feature HP:0001873 {source="PMID:23801135"} ! Thrombocytopenia
relationship: disease_has_feature HP:0001935 {source="PMID:23801135"} ! Microcytic anemia
relationship: disease_has_feature HP:0011974 {source="PMID:23801135"} ! Myelofibrosis
relationship: disease_has_feature HP:0012211 {source="PMID:23801135"} ! Abnormal renal physiology

[Term]
id: MONDO:0018703
name: isolated splenogonadal fusion
subset: gard_rare {source="GARD:21903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457083"}
subset: ordo_morphological_anomaly {source="Orphanet:457083"}
subset: orphanet_rare {source="Orphanet:457083"}
subset: rare
synonym: "SGF" EXACT ABBREVIATION [Orphanet:457083]
xref: GARD:21903 {source="MONDO:GARD"}
xref: ICD10CM:Q89.0 {source="Orphanet:457083", source="Orphanet:457083/ntbt"}
xref: Orphanet:457083 {source="MONDO:equivalentTo"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0018704
name: obsolete actinomycosis
is_obsolete: true
replaced_by: MONDO:0005631

[Term]
id: MONDO:0018705
name: infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
subset: gard_rare {source="GARD:21904", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457205"}
subset: orphanet_rare {source="Orphanet:457205"}
subset: rare
synonym: "ANOAC" EXACT ABBREVIATION [Orphanet:457205]
synonym: "axonal neuropathy-optic atrophy-cognitive deficit syndrome" EXACT [Orphanet:457205]
xref: GARD:21904 {source="MONDO:GARD"}
xref: MEDGEN:1814445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:457205 {source="MONDO:equivalentTo"}
xref: UMLS:C5680002 {source="MEDGEN:1814445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:457205"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:457205", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018706
name: obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect
xref: GARD:17799 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6910" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0054741

[Term]
id: MONDO:0018707
name: obsolete clear cell sarcoma of kidney
is_obsolete: true
replaced_by: MONDO:0005006

[Term]
id: MONDO:0018708
name: squamous cell carcinoma of the oral tongue
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "oral tongue squamous cell carcinoma" EXACT [Orphanet:457252]
synonym: "OTSCC" EXACT ABBREVIATION [Orphanet:457252]
xref: ICD10CM:C02.0 {source="Orphanet:457252", source="Orphanet:457252/btnt"}
xref: ICD10CM:C02.1 {source="Orphanet:457252", source="Orphanet:457252/btnt"}
xref: ICD10CM:C02.2 {source="Orphanet:457252", source="Orphanet:457252/btnt"}
xref: ICD10CM:C02.3 {source="Orphanet:457252", source="Orphanet:457252/btnt"}
xref: ICD10CM:C02.4 {source="Orphanet:457252", source="Orphanet:457252/btnt"}
xref: ICD10CM:C02.8 {source="Orphanet:457252", source="Orphanet:457252/btnt"}
xref: Orphanet:457252 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0000500 ! tongue squamous cell carcinoma
is_a: MONDO:0005586 {source="MONDO:Redundant", source="Orphanet:457252"} ! head and neck neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017371"} ! rare

[Term]
id: MONDO:0018709
name: X-linked intellectual disability-hypotonia-movement disorder syndrome
subset: gard_rare {source="GARD:12715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457260"}
subset: orphanet_rare {source="Orphanet:457260"}
subset: rare
xref: GARD:12715 {source="MONDO:GARD"}
xref: MEDGEN:1814468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:457260 {source="MONDO:equivalentTo"}
xref: UMLS:C5681121 {source="MEDGEN:1814468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="Orphanet:457260", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018710
name: megalencephaly-severe kyphoscoliosis-overgrowth syndrome
subset: gard_rare {source="GARD:17805", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457359"}
subset: ordo_malformation_syndrome {source="Orphanet:457359"}
subset: orphanet_rare {source="Orphanet:457359"}
subset: rare
xref: GARD:17805 {source="MONDO:GARD"}
xref: MEDGEN:1814470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:457359 {source="MONDO:equivalentTo"}
xref: UMLS:C5681123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814470"}
is_a: MONDO:0014863 ! macrocephaly, dysmorphic facies, and psychomotor retardation
is_a: MONDO:0015159 {source="Orphanet:457359"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0019716 {source="Orphanet:457359"} ! overgrowth syndrome
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457359", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018711
name: intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
subset: gard_rare {source="GARD:21906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:457365"}
subset: ordo_malformation_syndrome {source="Orphanet:457365"}
subset: orphanet_rare {source="Orphanet:457365"}
subset: rare
xref: GARD:21906 {source="MONDO:GARD"}
xref: MEDGEN:1805563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:457365 {source="MONDO:equivalentTo"}
xref: UMLS:C5681124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805563"}
is_a: MONDO:0015159 {source="Orphanet:457365"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:457365", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018712
name: composite hemangioendothelioma
def: "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia." [NCIT:P378]
subset: gard_rare {source="GARD:21907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:458758"}
subset: orphanet_rare {source="Orphanet:458758"}
subset: rare
synonym: "composite hemangioendothelioma" EXACT [NCIT:C45475]
xref: GARD:21907 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:458758/ntbt", source="Orphanet:458758"}
xref: MEDGEN:220987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45475 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:458758 {source="MONDO:equivalentTo"}
xref: SCTID:403984006 {source="MONDO:equivalentTo"}
xref: UMLS:C1304513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220987"}
is_a: MONDO:0021121 {source="NCIT:C45475"} ! hemangioendothelioma
is_a: MONDO:0024296 {source="Orphanet:458758"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0018713
name: retiform hemangioendothelioma
def: "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels." [NCIT:P378]
subset: gard_rare {source="GARD:21908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:458763"}
subset: orphanet_rare {source="Orphanet:458763"}
subset: rare
synonym: "hobnail hemangioendothelioma" EXACT [NCIT:C27511]
synonym: "retiform hemangioendothelioma" EXACT [NCIT:C27511]
xref: GARD:21908 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:458763/ntbt", source="Orphanet:458763"}
xref: MEDGEN:266274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27511 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:458763 {source="MONDO:equivalentTo"}
xref: SCTID:403982005 {source="MONDO:equivalentTo"}
xref: UMLS:C1304512 {source="MEDGEN:266274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021121 {source="NCIT:C27511"} ! hemangioendothelioma
is_a: MONDO:0024296 {source="Orphanet:458763"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0018714
name: primary intralymphatic angioendothelioma
def: "An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation." [NCIT:P378]
subset: gard_rare {source="GARD:21909", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:458768"}
subset: orphanet_rare {source="Orphanet:458768"}
subset: rare
synonym: "Dabska tumor" EXACT [NCIT:C7526, Orphanet:458768]
synonym: "Dabska tumour" EXACT OMO:0003005 []
synonym: "malignant endothelial papillary angioendothelioma" EXACT [NCIT:C7526]
synonym: "papillary Endovascular angioendothelioma" EXACT [NCIT:C7526]
synonym: "papillary intralymphatic angioendothelioma" EXACT [NCIT:C7526]
synonym: "pila" EXACT [NCIT:C7526]
xref: GARD:21909 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:458768/ntbt", source="Orphanet:458768"}
xref: ICDO:9135/1 {source="NCIT:C7526"}
xref: MEDGEN:138037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7526 {source="MONDO:equivalentTo"}
xref: Orphanet:458768 {source="MONDO:equivalentTo"}
xref: UMLS:C0346087 {source="MEDGEN:138037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021121 {source="NCIT:C7526"} ! hemangioendothelioma
is_a: MONDO:0024296 {source="Orphanet:458768"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0018715
name: congenital hemangioma
def: "A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH)." [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, NCIT:C3841]
comment: Editor note: this is distinct from inflantile hemangioma
subset: disease_grouping
subset: gard_rare {source="GARD:21910", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:458775"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital angioma" RELATED [NCIT:C3841]
synonym: "congenital hemangioma" EXACT [NCIT:C3841]
xref: GARD:21910 {source="MONDO:GARD"}
xref: MEDGEN:65912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3841 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:458775 {source="MONDO:equivalentTo"}
xref: SCTID:32361000119104 {source="MONDO:equivalentTo"}
xref: UMLS:C0235753 {source="MEDGEN:65912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="NCIT:C3841", source="https://orcid.org/0000-0002-6601-2165"} ! hemangioma
is_a: MONDO:0024296 {source="Orphanet:458775"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0018716
name: partially involuting congenital hemangioma
def: "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion" [https://doi.org/10.1016/j.jaad.2013.09.018]
subset: gard_rare {source="GARD:21911", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:458785"}
subset: orphanet_rare {source="Orphanet:458785"}
subset: rare
synonym: "PICH" EXACT ABBREVIATION [https://doi.org/10.1016/j.jaad.2013.09.018]
xref: GARD:21911 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:458785/ntbt", source="Orphanet:458785"}
xref: MEDGEN:1672492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C172209 {source="MONDO:equivalentTo"}
xref: Orphanet:458785 {source="MONDO:equivalentTo"}
xref: UMLS:C4733501 {source="MONDO:equivalentTo", source="MEDGEN:1672492", source="MONDO:MEDGEN"}
is_a: MONDO:0018715 {source="Orphanet:458785"} ! congenital hemangioma

[Term]
id: MONDO:0018717
name: mixed cystic lymphatic malformation
subset: gard_rare {source="GARD:21912", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:458792"}
subset: ordo_malformation_syndrome {source="Orphanet:458792"}
subset: orphanet_rare {source="Orphanet:458792"}
subset: rare
synonym: "mixed cystic lymphangioma" EXACT [Orphanet:458792]
xref: GARD:21912 {source="MONDO:GARD"}
xref: ICD10CM:D18.1 {source="Orphanet:458792", source="Orphanet:458792/ntbt"}
xref: MEDGEN:1805965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:458792 {source="MONDO:equivalentTo"}
xref: UMLS:C5680000 {source="MEDGEN:1805965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002013 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! lymphangioma
is_a: MONDO:0005833 {source="https://orcid.org/0000-0001-7941-2961"} ! lymphatic system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0018718
name: obsolete vascular tumor with associated anomalies
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular neoplasm'
xref: GARD:21913 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:458827 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0024296

[Term]
id: MONDO:0018719
name: obsolete obsolete rare capillary malformation with associated anomalies
comment: A grouping term that is probably not used clinically.
subset: ordo_group_of_disorders {source="Orphanet:458830"}
xref: GARD:21914 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:458830 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1727" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true
consider: MONDO:0016231

[Term]
id: MONDO:0018720
name: obsolete common cystic lymphatic malformation
subset: ordo_group_of_disorders {source="Orphanet:458833"}
xref: GARD:21915 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:458833 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018721
name: obsolete rare combined vascular malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:458837"}
xref: GARD:21916 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:458837 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018722
name: obsolete primary lymphedema with associated anomalies
subset: disease_grouping
xref: Orphanet:458841 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0018723
name: obsolete rare vascular malformation of major vessels
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:458844"}
xref: GARD:21917 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:458844 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018724
name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
subset: gard_rare {source="GARD:17815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:459070"}
subset: ordo_malformation_syndrome {source="Orphanet:459070"}
subset: orphanet_rare {source="Orphanet:459070"}
subset: rare
xref: GARD:17815 {source="MONDO:GARD"}
xref: MEDGEN:1811349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:459070 {source="MONDO:equivalentTo"}
xref: UMLS:C5687848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811349"}
is_a: MONDO:0015159 {source="Orphanet:459070"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016761 {source="Orphanet:459070"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459070", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018725
name: corpus callosum agenesis-macrocephaly-hypertelorism syndrome
subset: gard_rare {source="GARD:21918", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:459074"}
subset: ordo_malformation_syndrome {source="Orphanet:459074"}
subset: orphanet_rare {source="Orphanet:459074"}
subset: rare
synonym: "7q36.3 microduplication syndrome" EXACT [Orphanet:459074]
synonym: "dup(7)(q36.3)" EXACT [Orphanet:459074]
xref: GARD:21918 {source="MONDO:GARD"}
xref: ICD10CM:Q04.0 {source="Orphanet:459074", source="Orphanet:459074/attributed", source="Orphanet:459074/ntbt"}
xref: MEDGEN:1801729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:459074 {source="MONDO:equivalentTo"}
xref: UMLS:C5679998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801729"}
is_a: MONDO:0015159 {source="Orphanet:459074"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459074", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018726
name: obsolete immunodeficiency due to a complement cascade component deficiency
is_obsolete: true
replaced_by: MONDO:0003832

[Term]
id: MONDO:0018727
name: obsolete immunodeficiency due to a complement regulatory deficiency
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease'
subset: ordo_group_of_disorders {source="Orphanet:459348"}
xref: GARD:21920 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:459348 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003778

[Term]
id: MONDO:0018728
name: obsolete rare genetic capillary malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:459526"}
xref: GARD:21921 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:459526 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016231

[Term]
id: MONDO:0018729
name: obsolete genetic vascular tumor
def: "OBSOLETE. An instance of rare vascular tumor that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:459543"}
synonym: "genetic rare vascular tumor" EXACT [MONDO:patterns/genetic]
synonym: "rare genetic vascular tumor" EXACT [Orphanet:459543]
xref: GARD:21923 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:459543 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0024296

[Term]
id: MONDO:0018730
name: obsolete rare genetic venous malformation
def: "OBSOLETE. An instance of rare venous malformation that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:459548"}
synonym: "genetic rare venous malformation" EXACT [MONDO:patterns/genetic]
xref: GARD:21924 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:459548 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018731
name: obsolete lethal multiple congenital anomalies/dysmorphic syndrome
subset: ordo_group_of_disorders {source="Orphanet:459787"}
xref: GARD:21925 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:459787 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018733
name: intellectual disability syndrome due to a DYRK1A point mutation
subset: gard_rare {source="GARD:21926", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:464311"}
subset: rare
synonym: "DYRK1A-related intellectual disability syndrome due to a point mutation" EXACT [Orphanet:464311]
xref: GARD:21926 {source="MONDO:GARD"}
xref: MEDGEN:1826160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:464311 {source="MONDO:equivalentTo"}
xref: UMLS:C5679991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826160"}
is_a: MONDO:0013578 {source="Orphanet:464311"} ! DYRK1A-related intellectual disability syndrome
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0018734
name: verrucous hemangioma
def: "A skin hemangioma characterized by the presence of epidermal hyperplasia." [NCIT:C4299]
subset: gard_rare {source="GARD:21927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464318"}
subset: orphanet_rare {source="Orphanet:464318"}
subset: rare
synonym: "verrucous keratotic hemangioma" EXACT [MONDO:0003106, NCIT:C4299]
synonym: "verrucous keratotic hemangioma (morphologic abnormality)" EXACT [DOID:470]
xref: DOID:470 {source="MONDO:equivalentTo"}
xref: GARD:21927 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:464318/ntbt", source="Orphanet:464318"}
xref: ICDO:9142/0 {source="NCIT:C4299"}
xref: MEDGEN:90802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4299 {source="MONDO:equivalentTo", source="DOID:470"}
xref: Orphanet:464318 {source="MONDO:equivalentTo"}
xref: SCTID:20985003 {source="DOID:470"}
xref: UMLS:C0334540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90802"}
is_a: MONDO:0003110 {source="DOID:470", source="MONDO:Entailed", source="NCIT:C4299"} ! skin hemangioma
is_a: MONDO:0006500 {source="MONDO:Redundant", source="NCIT:C4299/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! hemangioma
is_a: MONDO:0024296 {source="Orphanet:464318"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0018735
name: multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
def: "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas." [NCIT:C60672]
subset: gard_rare {source="GARD:10467", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464321"}
subset: orphanet_rare {source="Orphanet:464321"}
subset: rare
synonym: "cutaneovisceral angiomatosis-thrombocytopenia syndrome" EXACT [Orphanet:464321]
synonym: "DKFZp434L132" EXACT [NCIT:C60672]
synonym: "MALT1 wt allele" EXACT [NCIT:C60672]
synonym: "MLT" EXACT ABBREVIATION [Orphanet:464321]
synonym: "MLT1" EXACT ABBREVIATION [NCIT:C60672]
synonym: "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele" EXACT [NCIT:C60672]
synonym: "multifocal lymphangioendotheliomatosis with thrombocytopenia" EXACT [Orphanet:464321]
xref: GARD:10467 {source="MONDO:GARD"}
xref: ICD10CM:D18.1 {source="Orphanet:464321/ntbt", source="Orphanet:464321"}
xref: MEDGEN:1804470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C60672 {source="MONDO:equivalentTo"}
xref: Orphanet:464321 {source="MONDO:equivalentTo"}
xref: UMLS:C5575322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804470"}
is_a: MONDO:0002013 {source="Orphanet:464321"} ! lymphangioma

[Term]
id: MONDO:0018736
name: kaposiform lymphangiomatosis
def: "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells." [PMID:24252784]
comment: Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784]
subset: gard_rare {source="GARD:13451", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464329"}
subset: orphanet_rare {source="Orphanet:464329"}
subset: rare
synonym: "KLA" BROAD ABBREVIATION [PMID:24252784]
xref: GARD:13451 {source="MONDO:GARD"}
xref: ICD10CM:D18.1 {source="Orphanet:464329/ntbt", source="Orphanet:464329"}
xref: MEDGEN:1807991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:464329 {source="MONDO:equivalentTo"}
xref: UMLS:C5681097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807991"}
is_a: MONDO:0024296 {source="Orphanet:464329"} ! vascular neoplasm
relationship: disease_shares_features_of MONDO:0016236 ! kaposiform hemangioendothelioma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0018737
name: catastrophic antiphospholipid syndrome
subset: gard_rare {source="GARD:9820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464343"}
subset: orphanet_rare {source="Orphanet:464343"}
subset: rare
synonym: "caps" EXACT [Orphanet:464343]
synonym: "catastrophic APS" EXACT [Orphanet:464343]
xref: GARD:9820 {source="MONDO:GARD"}
xref: ICD10CM:D68.6 {source="Orphanet:464343/ntbt", source="Orphanet:464343"}
xref: ICD9:289.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:783641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200270 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:464343 {source="MONDO:equivalentTo"}
xref: SCTID:609329007 {source="MONDO:equivalentTo"}
xref: UMLS:C3662487 {source="MONDO:equivalentTo", source="MEDGEN:783641", source="MONDO:MEDGEN"}
is_a: MONDO:8000010 {source="https://orcid.org/0000-0002-6601-2165"} ! antiphospholipid syndrome

[Term]
id: MONDO:0018738
name: benign metanephric tumor
def: "A benign neoplasm that involves the metanephros." [MONDO:patterns/location]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464359"}
subset: orphanet_rare {source="Orphanet:464359"}
subset: rare
xref: ICD10CM:D30.0 {source="Orphanet:464359", source="Orphanet:464359/ntbt"}
xref: MEDGEN:1830110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:464359 {source="MONDO:equivalentTo"}
xref: UMLS:C5681098 {source="MEDGEN:1830110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021163 {source="Orphanet:464359"} ! kidney neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000081 ! metanephros
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare

[Term]
id: MONDO:0018739
name: neonatal alloimmune neutropenia
def: "A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported." [Orphanet:464370]
subset: gard_rare {source="GARD:21929", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464370"}
subset: orphanet_rare {source="Orphanet:464370"}
subset: rare
xref: GARD:21929 {source="MONDO:GARD"}
xref: ICD10CM:P61.5 {source="MONDO:relatedTo", source="Orphanet:464370/ntbt", source="Orphanet:464370"}
xref: MEDGEN:543869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:464370 {source="MONDO:equivalentTo"}
xref: SCTID:14333004 {source="MONDO:equivalentTo"}
xref: UMLS:C0272176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543869"}
is_a: MONDO:0001475 {source="PMID:16614528", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-5002-8648"} ! neutropenia
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0018740
name: drug-induced methemoglobinemia
def: "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)." [NCIT:C101045]
subset: gard_rare {source="GARD:21930", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464453"}
subset: orphanet_rare {source="Orphanet:464453"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired methemoglobinemia" BROAD [MONDO:patterns/acquired, Orphanet:464453]
synonym: "drug induced methemoglobinemia" EXACT [NCIT:C101045]
xref: GARD:21930 {source="MONDO:GARD"}
xref: ICD10CM:D74.8 {source="Orphanet:464453/ntbt", source="Orphanet:464453"}
xref: icd11.foundation:746336827 {source="Orphanet:464453", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:632786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C101045 {source="MONDO:equivalentTo"}
xref: Orphanet:464453 {source="MONDO:equivalentTo"}
xref: SCTID:191390009 {source="MONDO:equivalentTo"}
xref: UMLS:C0472781 {source="MEDGEN:632786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001117 {source="MONDO:Redundant", source="NCIT:C101045/inferred"} ! methemoglobinemia
intersection_of: MONDO:0001117 ! methemoglobinemia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0018741
name: paracetamol poisoning
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:464458"}
subset: ordo_disorder {source="Orphanet:464458"}
subset: orphanet_rare {source="Orphanet:464458"}
subset: rare
synonym: "acetaminophen poisoning" EXACT [Orphanet:464458]
xref: ICD9:965.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:464458 {source="MONDO:equivalentTo"}
xref: SCTID:70273001 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:46195 ! paracetamol

[Term]
id: MONDO:0018742
name: familial gastric type 1 neuroendocrine tumor
comment: Editor note: align gNET typology. See PMID:9041691 https://jamanetwork.com/journals/jamasurgery/fullarticle/390859
subset: gard_rare {source="GARD:21932", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:464756"}
subset: orphanet_rare {source="Orphanet:464756"}
subset: rare
synonym: "familial type 1 gNET" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hereditary type 1 gNET" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:21932 {source="MONDO:GARD"}
xref: MEDGEN:1826112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:464756 {source="MONDO:equivalentTo"}
xref: UMLS:C5681095 {source="MEDGEN:1826112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015062 {source="https://orcid.org/0000-0002-6601-2165"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
is_a: MONDO:0021223 {source="MONDO:0018972-obsoleted"} ! digestive system neoplasm

[Term]
id: MONDO:0018743
name: obsolete immune-mediated acquired neuromuscular junction disease
subset: ordo_group_of_disorders {source="Orphanet:464764"}
xref: GARD:21933 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:464764 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018744
name: oligodendroglial tumor
def: "Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas)." [Orphanet:46484]
subset: disease_grouping
subset: gard_rare {source="GARD:13156", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:46484"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "oligodendroglial neoplasm" EXACT [NCIT:C6960]
synonym: "oligodendroglial tumor" EXACT [NCIT:C6960]
xref: GARD:13156 {source="MONDO:GARD"}
xref: MEDGEN:233266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6960 {source="MONDO:equivalentTo"}
xref: Orphanet:46484 {source="MONDO:equivalentTo"}
xref: UMLS:C1335110 {source="MEDGEN:233266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C6960"} ! glioma
is_a: MONDO:0100342 {source="Orphanet:46484"} ! malignant glioma

[Term]
id: MONDO:0018745
name: obsolete superficial pemphigus
def: "OBSOLETE. Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." [Orphanet:46485]
subset: ordo_group_of_disorders {source="Orphanet:46485"}
xref: GARD:18833 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:L10.2 {source="Orphanet:46485", source="Orphanet:46485/btnt"}
xref: ICD10CM:L10.3 {source="Orphanet:46485", source="Orphanet:46485/btnt"}
xref: ICD10CM:L10.4 {source="Orphanet:46485", source="Orphanet:46485/btnt"}
xref: Orphanet:46485 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018746
name: mucous membrane pemphigoid
def: "Mucous membrane pemphigoid is a bullous dermatosis characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." [Orphanet:46486]
subset: gard_rare {source="GARD:5913", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:46486"}
subset: orphanet_rare {source="Orphanet:46486"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign mucosal pemphigoid" RELATED [GARD:0005913]
synonym: "benign mucous Membrane pemphigoid" EXACT [NCIT:C34907]
synonym: "benign mucous membrane pemphigoid" RELATED [DOID:11656, GARD:0005913]
synonym: "benign mucous membrane pemphigoid with ocular involvement" RELATED [DOID:11656, ICD9CM:694.61]
synonym: "cicatricial pemphigoid" EXACT [MONDO:0006535, Orphanet:46486]
synonym: "cicatricial pemphigoid with ocular involvement" RELATED [DOID:11656]
synonym: "mucosal pemphigoid" EXACT [Orphanet:46486]
synonym: "Mucosynechial pemphigoid" EXACT [Orphanet:46486]
synonym: "ocular pemphigoid" RELATED [DOID:11656, SCTID:34250006]
synonym: "ocular pemphigus" RELATED [DOID:11656]
xref: DOID:11656 {source="EFO:1000680", source="MONDO:equivalentTo"}
xref: EFO:1000680 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5913 {source="MONDO:GARD"}
xref: ICD10CM:L12.1 {source="DOID:11656", source="Orphanet:46486/ntbt", source="Orphanet:46486"}
xref: icd11.foundation:1456138933 {source="MONDO:equivalentTo", source="Orphanet:46486"}
xref: ICD9:694.6 {source="DOID:11656"}
xref: ICD9:694.61 {source="DOID:11656", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10057052 {source="Orphanet:46486/e", source="Orphanet:46486"}
xref: MEDGEN:10619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010390 {source="DOID:11656"}
xref: NANDO:1200634 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34907 {source="DOID:11656", source="MONDO:equivalentTo"}
xref: Orphanet:46486 {source="MONDO:equivalentTo"}
xref: SCTID:193905009 {source="DOID:11656"}
xref: SCTID:194590009 {source="DOID:11656"}
xref: SCTID:200913007 {source="DOID:11656"}
xref: SCTID:200914001 {source="DOID:11656"}
xref: SCTID:200915000 {source="DOID:11656"}
xref: SCTID:34250006 {source="DOID:11656", source="MONDO:relatedTo"}
xref: SCTID:76092003 {source="DOID:11656", source="MONDO:equivalentTo"}
xref: UMLS:C0030804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10619"}
is_a: MONDO:0019337 {source="DOID:11656", source="EFO:1000680", source="EFO:1000680/inferred", source="Orphanet:46486"} ! autoimmune bullous skin disease

[Term]
id: MONDO:0018747
name: acquired epidermolysis bullosa
def: "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." [Orphanet:46487]
subset: gard_rare {source="GARD:6360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:46487"}
subset: orphanet_rare {source="Orphanet:46487"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired epidermolysis bullosa" EXACT [DOID:4313, GARD:0006360, MONDO:patterns/acquired]
synonym: "EB acquisita" RELATED [GARD:0006360]
synonym: "EBA" EXACT ABBREVIATION [GARD:0006360, NCIT:C84690]
synonym: "epidermolysis bullosa acquisita" EXACT [MONDO:0006542, NCIT:C84690, Orphanet:46487]
synonym: "epidermolysis bullosa Aquisita" EXACT [NCIT:C84690]
xref: DOID:4313 {source="EFO:1000691", source="MONDO:equivalentTo"}
xref: EFO:1000691 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6360 {source="MONDO:GARD"}
xref: ICD10CM:L12.3 {source="Orphanet:46487/e", source="DOID:4313", source="MONDO:equivalentTo", source="Orphanet:46487"}
xref: ICD10CM:L12.30 {source="DOID:4313"}
xref: icd11.foundation:2034586329 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:46487"}
xref: ICD9:695.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056508 {source="Orphanet:46487/e", source="Orphanet:46487"}
xref: MEDGEN:37178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016107 {source="DOID:4313", source="MONDO:equivalentTo"}
xref: NANDO:1200635 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84690 {source="DOID:4313", source="MONDO:equivalentTo"}
xref: Orphanet:46487 {source="MONDO:equivalentTo", source="GARD:0006360"}
xref: SCTID:200911009 {source="DOID:4313"}
xref: SCTID:2772003 {source="DOID:4313", source="MONDO:equivalentTo"}
xref: UMLS:C0079293 {source="MEDGEN:37178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006541 {source="DOID:4313", source="EFO:1000691", source="MESH:D016107", source="MONDO:Redundant", source="NCIT:C84690"} ! epidermolysis bullosa
is_a: MONDO:0019337 {source="Orphanet:46487"} ! autoimmune bullous skin disease
intersection_of: MONDO:0006541 ! epidermolysis bullosa
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: has_characteristic MONDO:0021141 {source="GARD:0006360"} ! acquired
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita" xsd:anyURI {source="GARD:0006360"}

[Term]
id: MONDO:0018748
name: linear IgA Dermatosis
def: "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." [MESH:D062027]
subset: gard_rare {source="GARD:18834", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:46488"}
subset: orphanet_rare {source="Orphanet:46488"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0009313 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18834 {source="MONDO:GARD"}
xref: ICD10CM:L10.8 {source="Orphanet:46488/ntbt", source="Orphanet:46488"}
xref: icd11.foundation:1802341051 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:46488"}
xref: MedDRA:10024515 {source="Orphanet:46488/e", source="Orphanet:46488"}
xref: MEDGEN:473106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D062027 {source="MONDO:equivalentTo"}
xref: Orphanet:46488 {source="MONDO:equivalentTo"}
xref: SCTID:95330001 {source="MONDO:equivalentTo"}
xref: UMLS:C0406650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473106"}
is_a: MONDO:0019337 {source="Orphanet:46488"} ! autoimmune bullous skin disease

[Term]
id: MONDO:0018749
name: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
def: "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." [Orphanet:46532]
subset: gard_rare {source="GARD:18642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:46532"}
subset: orphanet_rare {source="Orphanet:46532"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPFH-beta-thalassemia syndrome" EXACT [Orphanet:46532]
xref: GARD:18642 {source="MONDO:GARD"}
xref: HGNC:3627 {source="Orphanet:46532/btnt", source="Orphanet:46532"}
xref: HGNC:5153 {source="Orphanet:46532/btnt", source="Orphanet:46532"}
xref: ICD10CM:D56.4 {source="Orphanet:46532/specific", source="Orphanet:46532/e", source="Orphanet:46532"}
xref: icd11.foundation:418601307 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:46532"}
xref: MEDGEN:543715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"}
xref: OMIM:142470 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"}
xref: OMIM:613566 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"}
xref: Orphanet:46532 {source="MONDO:equivalentTo"}
xref: UMLS:C0271994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543715"}
is_a: MONDO:0017145 {source="Orphanet:46532"} ! beta-thalassemia and related diseases

[Term]
id: MONDO:0018750
name: obsolete class I glucose-6-phosphate dehydrogenase deficiency
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4202" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010480

[Term]
id: MONDO:0018751
name: hereditary otorhinolaryngologic disease
def: "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: disease_grouping
subset: gard_rare {source="GARD:21935", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:466084"}
subset: rare
synonym: "genetic otorhinolaryngologic disease" EXACT [MONDO:patterns/genetic]
xref: GARD:21935 {source="MONDO:GARD"}
xref: MEDGEN:1842579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:466084 {source="MONDO:equivalentTo"}
xref: UMLS:C5681130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842579"}
intersection_of: MONDO:0024623 ! otorhinolaryngologic disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0021198"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0018752
name: exercise-induced malignant hyperthermia
subset: gard_rare {source="GARD:21936", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466650"}
subset: orphanet_rare {source="Orphanet:466650"}
subset: rare
synonym: "Exertional heat stroke" EXACT [Orphanet:466650]
xref: GARD:21936 {source="MONDO:GARD"}
xref: ICD10CM:T88.3 {source="Orphanet:466650/ntbt", source="Orphanet:466650"}
xref: MEDGEN:1814609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:466650 {source="MONDO:equivalentTo"}
xref: SCTID:735907005 {source="MONDO:equivalentTo"}
xref: UMLS:C5700399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814609"}
is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder

[Term]
id: MONDO:0018753
name: obsolete rare disease with malignant hyperthermia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:466658"}
xref: GARD:21937 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:466658 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018754
name: cyanide poisoning
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:466670"}
subset: ordo_disorder {source="Orphanet:466670"}
subset: orphanet_rare {source="Orphanet:466670"}
subset: rare
xref: ICD10CM:T65.0 {source="Orphanet:466670/e", source="Orphanet:466670"}
xref: ICD9:989.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:466670 {source="MONDO:equivalentTo"}
xref: SCTID:66207005 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning

[Term]
id: MONDO:0018755
name: scorpion envenomation
def: "Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema." [Orphanet:466677]
subset: gard_rare {source="GARD:21939", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466677"}
subset: orphanet_rare {source="Orphanet:466677"}
subset: rare
synonym: "poisoning caused by scorpion venom" EXACT []
synonym: "poisoning due to scorpion venom" EXACT []
synonym: "toxic effect of venom of scorpion" EXACT []
xref: GARD:21939 {source="MONDO:GARD"}
xref: ICD10CM:T63.2 {source="Orphanet:466677", source="Orphanet:466677/e"}
xref: Orphanet:466677 {source="MONDO:equivalentTo"}
xref: SCTID:217670007 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:466677"} ! poisoning
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0018756
name: euthyroid Graves orbitopathy
comment: Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970
subset: gard_rare {source="GARD:21940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466682"}
subset: orphanet_rare {source="Orphanet:466682"}
subset: rare
synonym: "euthyroid Graves ophthalmopathy" EXACT [Orphanet:466682]
xref: DOID:0081120 {source="MONDO:equivalentTo"}
xref: GARD:21940 {source="MONDO:GARD"}
xref: ICD10CM:H05.2 {source="Orphanet:466682/ntbt", source="Orphanet:466682"}
xref: MEDGEN:1803712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:466682 {source="MONDO:equivalentTo"}
xref: UMLS:C5680004 {source="MEDGEN:1803712", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 ! disease
is_a: MONDO:0007179 {source="PMID:28427469"} ! autoimmune disease
relationship: disease_arises_from_feature MONDO:0005364 {source="PMID:27284451"} ! Graves disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0018757
name: supratip dysplasia
def: "Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected." [Orphanet:466695]
subset: gard_rare {source="GARD:21941", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466695"}
subset: ordo_morphological_anomaly {source="Orphanet:466695"}
subset: orphanet_rare {source="Orphanet:466695"}
subset: rare
xref: GARD:21941 {source="MONDO:GARD"}
xref: ICD10CM:J34.8 {source="Orphanet:466695", source="Orphanet:466695/ntbt"}
xref: MEDGEN:1807664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:466695 {source="MONDO:equivalentTo"}
xref: UMLS:C5681127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807664"}
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0018758
name: obsolete familial patent arterial duct
def: "OBSOLETE. Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." [Orphanet:466729]
subset: ordo_disorder {source="Orphanet:466729"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17828 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:466729 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018759
name: childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
subset: gard_rare {source="GARD:21942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466921"}
subset: orphanet_rare {source="Orphanet:466921"}
subset: rare
xref: GARD:21942 {source="MONDO:GARD"}
xref: MEDGEN:1800286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:466921 {source="MONDO:equivalentTo"}
xref: UMLS:C5568863 {source="MEDGEN:1800286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016106 {source="Orphanet:466921"} ! progressive muscular dystrophy

[Term]
id: MONDO:0018760
name: DeSanto-Shinawi syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466943"}
subset: ordo_malformation_syndrome {source="Orphanet:466943"}
subset: orphanet_rare {source="Orphanet:466943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT [Orphanet:466943]
xref: DOID:0081126 {source="MONDO:equivalentTo"}
xref: GARD:17838 {source="MONDO:GARD"}
xref: MEDGEN:908218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:466943 {source="MONDO:equivalentTo"}
xref: UMLS:C4225239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908218"}
is_a: MONDO:0015159 {source="Orphanet:466943"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:466943", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5424" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018761
name: SMARCA4-deficient sarcoma of thorax
subset: gard_rare {source="GARD:21943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:466962"}
subset: orphanet_rare {source="Orphanet:466962"}
subset: rare
synonym: "SMARCA4-deficient thoracic sarcoma" EXACT [Orphanet:466962]
xref: DOID:0080532 {source="MONDO:equivalentTo"}
xref: GARD:21943 {source="MONDO:GARD"}
xref: MEDGEN:1806595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:466962 {source="MONDO:equivalentTo"}
xref: UMLS:C5554190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806595"}
is_a: MONDO:0018078 {source="Orphanet:466962"} ! soft tissue sarcoma
is_a: MONDO:0020641 {source="Orphanet:466962"} ! respiratory tract neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020034"} ! rare

[Term]
id: MONDO:0018762
name: non-acquired combined pituitary hormone deficiency
def: "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." [Orphanet:467]
subset: disease_grouping
subset: gard_rare {source="GARD:2252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:467"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital combined pituitary hormone deficiency" EXACT [Orphanet:467]
synonym: "congenital hypopituitarism" EXACT [Orphanet:467]
xref: GARD:2252 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:467", source="MONDO:relatedTo", source="Orphanet:467/attributed", source="Orphanet:467/ntbt"}
xref: MEDGEN:1842250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200312 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:467 {source="MONDO:equivalentTo"}
xref: UMLS:C5680091 {source="MEDGEN:1842250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019824 {source="Orphanet:467"} ! non-acquired pituitary hormone deficiency

[Term]
id: MONDO:0018763
name: tubulinopathy-associated dysgyria
subset: gard_rare {source="GARD:21944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:467166"}
subset: orphanet_rare {source="Orphanet:467166"}
subset: rare
synonym: "brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome" EXACT [Orphanet:467166]
xref: GARD:21944 {source="MONDO:GARD"}
xref: MEDGEN:1800273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:467166 {source="MONDO:equivalentTo"}
xref: UMLS:C5568850 {source="MEDGEN:1800273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 {source="Orphanet:467166"} ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
is_a: MONDO:0100153 {source="https://orcid.org/0000-0001-5208-3432"} ! tubulinopathy
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation

[Term]
id: MONDO:0018764
name: microcephalic primordial dwarfism due to RTTN deficiency
def: "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." [Orphanet:468631]
subset: gard_rare {source="GARD:17841", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468631"}
subset: ordo_malformation_syndrome {source="Orphanet:468631"}
subset: orphanet_rare {source="Orphanet:468631"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17841 {source="MONDO:GARD"}
xref: MEDGEN:766745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614833 {source="Orphanet:468631", source="MONDO:equivalentTo"}
xref: Orphanet:468631 {source="MONDO:equivalentTo"}
xref: UMLS:C3553831 {source="MONDO:equivalentTo", source="MEDGEN:766745", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:26608784", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0800063 {source="PMID:26608784", source="https://orcid.org/0009-0001-6494-4831"} ! primordial dwarfism and slender bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018765
name: cryptogenic multifocal ulcerous stenosing enteritis
subset: gard_rare {source="GARD:21945", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468635"}
subset: orphanet_rare {source="Orphanet:468635"}
subset: rare
synonym: "CMUSE" EXACT ABBREVIATION [Orphanet:468635]
xref: GARD:21945 {source="MONDO:GARD"}
xref: icd11.foundation:1401898155 {source="Orphanet:468635", source="MONDO:equivalentTo"}
xref: MEDGEN:927932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:468635 {source="MONDO:equivalentTo"}
xref: SCTID:722849002 {source="MONDO:equivalentTo"}
xref: UMLS:C4302263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927932"}
is_a: MONDO:0005020 {source="Orphanet:468635"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare

[Term]
id: MONDO:0018766
name: chronic enteropathy associated with SLCO2A1 gene
subset: gard_rare {source="GARD:21946", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468641"}
subset: orphanet_rare {source="Orphanet:468641"}
subset: rare
synonym: "CEAS" EXACT ABBREVIATION [Orphanet:468641]
xref: GARD:21946 {source="MONDO:GARD"}
xref: MEDGEN:1800261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100261 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200925 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:468641 {source="MONDO:equivalentTo"}
xref: UMLS:C5568838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800261"}
is_a: MONDO:0005020 {source="Orphanet:468641"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare

[Term]
id: MONDO:0018767
name: severe primary trimethylaminuria
def: "Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:6447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:468726"}
subset: orphanet_rare {source="Orphanet:468726"}
subset: rare
synonym: "fish malodor syndrome" RELATED [GARD:0006447]
synonym: "fish odor syndrome" RELATED [GARD:0006447]
synonym: "fish odour syndrome" RELATED OMO:0003005 []
synonym: "fish-odor syndrome" RELATED [OMIM:602079]
synonym: "stale fish syndrome" RELATED [GARD:0006447]
synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079]
synonym: "TMAuria" RELATED [GARD:0006447]
synonym: "trimethylaminuria" BROAD [OMIM:602079, OMIM:genemap2]
xref: DOID:0080361 {source="MONDO:equivalentTo"}
xref: GARD:6447 {source="MONDO:GARD"}
xref: HP:0003614 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E88.8 {source="Orphanet:468726/inclusion", source="Orphanet:468726", source="Orphanet:468726/ntbt"}
xref: MEDGEN:1814174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536561 {source="MONDO:equivalentTo"}
xref: OMIM:602079 {source="MONDO:equivalentTo", source="Orphanet:468726", source="Orphanet:468726/ntbt"}
xref: Orphanet:35056 {source="OMIM:602079"}
xref: Orphanet:468726 {source="MONDO:equivalentTo"}
xref: UMLS:C5575503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814174"}
is_a: MONDO:0100477 {source="PMID:33340416"} ! disorder of methylamine metabolism
intersection_of: MONDO:0011182 ! trimethylaminuria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3771 ! FMO3
relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:468726", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3448" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0018768
name: familial cold autoinflammatory syndrome
def: "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." [Orphanet:47045]
subset: gard_rare {source="GARD:9535", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1122"}
subset: ordo_disorder {source="Orphanet:47045"}
subset: orphanet_rare {source="Orphanet:47045"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial cold autoinflammatory syndrome" EXACT [Orphanet:47045]
synonym: "familial cold urticaria" RELATED [Orphanet:47045]
synonym: "familial polymorphous cold eruption" RELATED [GARD:0009535]
synonym: "FCAS" EXACT ABBREVIATION [Orphanet:47045]
synonym: "FCU" EXACT ABBREVIATION [Orphanet:47045]
xref: DOID:0090061 {source="MONDO:equivalentTo"}
xref: GARD:9535 {source="MONDO:GARD"}
xref: ICD10CM:L50.2 {source="Orphanet:47045/inclusion", source="Orphanet:47045/ntbt", source="Orphanet:47045", source="DOID:0090061"}
xref: MedDRA:10064570 {source="Orphanet:47045/e", source="Orphanet:47045"}
xref: MEDGEN:137986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200466 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200449 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200454 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201068 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119053 {source="MONDO:equivalentTo"}
xref: NORD:1122 {source="MONDO:NORD"}
xref: OMIMPS:120100 {source="MONDO:equivalentTo", source="DOID:0090061"}
xref: Orphanet:47045 {source="MONDO:equivalentTo", source="DOID:0090061"}
xref: UMLS:C0343068 {source="MEDGEN:137986", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016168 {source="Orphanet:47045"} ! cryopyrin-associated periodic syndrome
is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119053", source="Orphanet:47045/inferred", source="PMID:23827249"} ! autoinflammatory syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:120100"} ! inherited

[Term]
id: MONDO:0018769
name: isosporiasis
def: "An intestinal infection with Isospora belli." [NCIT:C4076]
subset: gard_rare {source="GARD:3033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:472"}
subset: orphanet_rare {source="Orphanet:472"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cystoisospora belli caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cystoisospora belli disease or disorder" EXACT []
synonym: "Cystoisospora belli infectious disease" EXACT []
synonym: "cystoisosporiasis" EXACT [MONDO:0005727, Orphanet:472]
synonym: "infection by Isospora belli and Isospora hominis" RELATED [DOID:2112]
synonym: "Isosporosis" EXACT [DOID:2112]
xref: DOID:2112 {source="MONDO:equivalentTo", source="EFO:0007232"}
xref: EFO:0007232 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3033 {source="MONDO:GARD"}
xref: ICD10CM:A07.3 {source="Orphanet:472/e", source="DOID:2112", source="MONDO:equivalentTo", source="Orphanet:472"}
xref: icd11.foundation:137713224 {source="MONDO:equivalentTo", source="Orphanet:472", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10023076 {source="Orphanet:472/e", source="Orphanet:472"}
xref: MEDGEN:90233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D021865 {source="Orphanet:472/e", source="DOID:2112", source="MONDO:equivalentTo", source="Orphanet:472", source="EFO:0007232"}
xref: NCIT:C4076 {source="DOID:2112", source="MONDO:equivalentTo"}
xref: Orphanet:472 {source="MONDO:equivalentTo"}
xref: SCTID:240373006 {source="DOID:2112"}
xref: SCTID:360427001 {source="DOID:2112"}
xref: SCTID:371423007 {source="DOID:2112", source="MONDO:equivalentTo"}
xref: SCTID:73034009 {source="DOID:2112"}
xref: UMLS:C0311386 {source="MEDGEN:90233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="DOID:2112/inferred", source="EFO:0007232", source="MESH:D021865/inferred", source="MONDO:Redundant", source="NCIT:C4076", source="Orphanet:472"} ! parasitic infectious disease
is_a: MONDO:0005707 {source="DOID:2112", source="MESH:D021865"} ! coccidiosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:482538 ! Cystoisospora belli
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0018770
name: Jeune syndrome
def: "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes." [Orphanet:474]
subset: gard_rare {source="GARD:3049", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1074", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:474"}
subset: ordo_malformation_syndrome {source="Orphanet:474"}
subset: orphanet_rare {source="Orphanet:474"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Asphyxiating Thoracic Dystrophy" EXACT [NORD:1074]
synonym: "asphyxiating thoracic dystrophy" RELATED [DOID:0050592]
synonym: "asphyxiating thoracic dystrophy of the newborn" EXACT [Orphanet:474]
synonym: "ATD" RELATED ABBREVIATION [GARD:0003049]
synonym: "Chondroectodermal dysplasia-like syndrome" RELATED [GARD:0003049]
synonym: "infantile thoracic dystrophy" RELATED [GARD:0003049]
synonym: "JATD" EXACT ABBREVIATION [Orphanet:474]
synonym: "Jeune asphyxiating thoracic dystrophy" EXACT [Orphanet:474]
synonym: "Jeune syndrome" EXACT [DOID:0050592]
synonym: "Jeune's syndrome" RELATED [GARD:0003049]
synonym: "short-rib thoracic dysplasia" EXACT [OMIMPS:208500]
synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [DOID:0050592]
synonym: "thoracic pelvic phalangeal dystrophy" EXACT [DOID:0050592, PMID:6636109]
xref: DOID:0050592 {source="MONDO:equivalentTo"}
xref: GARD:3049 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:474/ntbt", source="Orphanet:474/inclusion", source="Orphanet:474", source="DOID:0050592"}
xref: icd11.foundation:554018956 {source="MONDO:equivalentTo", source="Orphanet:474", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10057621 {source="Orphanet:474/e", source="Orphanet:474"}
xref: MEDGEN:78548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537571 {source="Orphanet:474/e", source="MONDO:equivalentTo", source="Orphanet:474"}
xref: NCIT:C84794 {source="MONDO:equivalentTo"}
xref: NORD:1074 {source="MONDO:NORD"}
xref: OMIMPS:208500 {source="MONDO:equivalentTo", source="DOID:0050592"}
xref: Orphanet:474 {source="MONDO:equivalentTo", source="DOID:0050592"}
xref: SCTID:75049004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265275 {source="MEDGEN:78548", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84794"} ! syndromic disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0015461 {source="Orphanet:474"} ! short rib-polydactyly syndrome
is_a: MONDO:0015962 {source="Orphanet:474"} ! inherited renal tubular disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:208500"} ! inherited

[Term]
id: MONDO:0018771
name: obsolete congenital anomaly of ventricular septum
def: "OBSOLETE. A congenital heart malformation that involves the interventricular septum." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:474347"}
synonym: "congenital anomaly of interventricular communication" EXACT [Orphanet:474347]
synonym: "congenital heart malformation of interventricular septum" EXACT [MONDO:design_pattern]
synonym: "congenital ventricular septal anomaly" EXACT [Orphanet:474347]
synonym: "interventricular septum congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "rare congenital anomaly of ventricular septum" RELATED [Orphanet:474347]
xref: GARD:21948 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:474347 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018772
name: Joubert syndrome
def: "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." [Orphanet:475]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1312"}
subset: ordo_disorder {source="Orphanet:475"}
subset: orphanet_rare {source="Orphanet:475"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar vermis agenesis" RELATED [GARD:0006802]
synonym: "cerebelloparenchymal disorder IV" EXACT [Orphanet:475]
synonym: "classic Joubert syndrome" EXACT [Orphanet:475]
synonym: "CPD IV" EXACT [Orphanet:475]
synonym: "JBTS" EXACT ABBREVIATION [DOID:0050777]
synonym: "Joubert syndrome" EXACT CLINGEN_LABEL []
synonym: "Joubert syndrome type A" EXACT [Orphanet:475]
synonym: "Joubert-Boltshauser syndrome" EXACT [Orphanet:475]
synonym: "pure Joubert syndrome" EXACT [Orphanet:475]
xref: DOID:0050777 {source="MONDO:equivalentTo"}
xref: GARD:6802 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="DOID:0050777", source="Orphanet:475/attributed", source="Orphanet:475/ntbt", source="Orphanet:475"}
xref: icd11.foundation:1414756318 {source="MONDO:equivalentTo", source="Orphanet:475"}
xref: MEDGEN:98464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C74996 {source="MONDO:equivalentTo"}
xref: NORD:1312 {source="MONDO:NORD"}
xref: OMIMPS:213300 {source="DOID:0050777", source="MONDO:equivalentTo"}
xref: Orphanet:475 {source="DOID:0050777", source="MONDO:equivalentTo"}
xref: SCTID:716997004 {source="MONDO:equivalentTo"}
xref: UMLS:C0431399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98464"}
is_a: MONDO:0002254 {source="NCIT:C74996"} ! syndromic disease
is_a: MONDO:0005308 {source="DOID:0050777", source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:475", source="Orphanet:475/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0020130 {source="Orphanet:475", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformation of the cerebellar vermis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:213300"} ! inherited

[Term]
id: MONDO:0018773
name: autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
subset: gard_rare {source="GARD:21949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:476093"}
subset: orphanet_rare {source="Orphanet:476093"}
subset: rare
xref: GARD:21949 {source="MONDO:GARD"}
xref: MEDGEN:1799560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:476093 {source="MONDO:equivalentTo"}
xref: UMLS:C5568137 {source="MEDGEN:1799560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015362 {source="Orphanet:476093"} ! neuronopathy, distal hereditary motor, autosomal dominant
is_a: MONDO:0018943 {source="Orphanet:476093"} ! myofibrillar myopathy

[Term]
id: MONDO:0018774
name: erythrokeratodermia-cardiomyopathy syndrome
def: "A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis." [Orphanet:476096]
comment: Reason: duplicate. This will be merged with MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
subset: gard_rare {source="GARD:21950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:476096"}
subset: orphanet_rare {source="Orphanet:476096"}
subset: rare
synonym: "EKC syndrome" EXACT [Orphanet:476096]
xref: GARD:21950 {source="MONDO:GARD"}
xref: MEDGEN:1799559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:476096 {source="MONDO:equivalentTo"}
xref: UMLS:C5568136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799559"}
is_a: MONDO:0019270 {source="Orphanet:476096"} ! erythrokeratoderma
relationship: disease_has_major_feature HP:0001644 {source="Orphanet:476096"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:476096", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0019183 {source="Orphanet:476096", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited odontologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7435" xsd:anyURI
property_value: IAO:0006012 "2024-06-01" xsd:string

[Term]
id: MONDO:0018775
name: obsolete axonal hereditary motor and sensory neuropathy
subset: clingen {source="MONDO:CLINGEN"}
subset: ordo_group_of_disorders {source="Orphanet:476109"}
subset: otar {source="MONDO:OTAR"}
synonym: "axonal HMSN" EXACT [Orphanet:476109]
xref: GARD:21951 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:476109 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018776
name: demyelinating hereditary motor and sensory neuropathy
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:21952", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:476116"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "demyelinating hereditary motor and sensory neuropathy" EXACT CLINGEN_LABEL []
synonym: "demyelinating HMSN" EXACT [Orphanet:476116]
xref: GARD:21952 {source="MONDO:GARD"}
xref: MEDGEN:1843348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:476116 {source="MONDO:equivalentTo"}
xref: UMLS:C5680106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843348"}
is_a: MONDO:0015358 {source="Orphanet:476116"} ! hereditary motor and sensory neuropathy
is_a: MONDO:0015626 {source="Orphanet:476116"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0018777
name: autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
subset: gard_rare {source="GARD:21953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:476119"}
subset: ordo_malformation_syndrome {source="Orphanet:476119"}
subset: orphanet_rare {source="Orphanet:476119"}
subset: rare
xref: GARD:21953 {source="MONDO:GARD"}
xref: MEDGEN:1800225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:476119 {source="MONDO:equivalentTo"}
xref: UMLS:C5568802 {source="MEDGEN:1800225", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019280 {source="Orphanet:476119"} ! hypertrichosis

[Term]
id: MONDO:0018778
name: intermediate Charcot-Marie-Tooth disease
subset: disease_grouping
subset: gard_rare {source="GARD:21954", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:476123"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW [DOID:0050543]
synonym: "Charcot-Marie-Tooth disease intermediate type" EXACT [MONDO:0000350]
synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW [DOID:0050543]
synonym: "Intermediate hereditary motor and sensory neuropathy" EXACT [Orphanet:476123]
xref: DOID:0050543 {source="MONDO:equivalentTo"}
xref: GARD:21954 {source="MONDO:GARD"}
xref: icd11.foundation:1389094589 {source="Orphanet:476123", source="MONDO:equivalentTo"}
xref: MEDGEN:1826149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200019 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:476123 {source="MONDO:equivalentTo"}
xref: UMLS:C5680108 {source="MEDGEN:1826149", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="DOID:0050543", source="Orphanet:476123", source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease
relationship: excluded_subClassOf MONDO:0015358 {source="Orphanet:476123", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary motor and sensory neuropathy

[Term]
id: MONDO:0018779
name: obsolete hypercontractile muscle stiffness syndrome
subset: ordo_group_of_disorders {source="Orphanet:476403"}
xref: GARD:21955 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:476403 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018780
name: congenital generalized hypercontractile muscle stiffness syndrome
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:21956", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:476406"}
subset: orphanet_rare {source="Orphanet:476406"}
subset: rare
xref: GARD:21956 {source="MONDO:GARD"}
xref: MEDGEN:1799212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:476406 {source="MONDO:equivalentTo"}
xref: UMLS:C5567789 {source="MONDO:equivalentTo", source="MEDGEN:1799212", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital myopathy
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:476406", source="Orphanet:476406/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0018781
name: KID syndrome
def: "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." [Orphanet:477]
comment: Editor note: Orphanet classifies as both AD and AR
subset: gard_rare {source="GARD:3113", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1326"}
subset: ordo_disorder {source="Orphanet:477"}
subset: ordo_inheritance_inconsistent
subset: orphanet_rare {source="Orphanet:477"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis hystrix Rheydt type" EXACT [Orphanet:477]
synonym: "Keratitis Ichthyosis Deafness Syndrome" EXACT [NORD:1326]
synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" RELATED [GARD:0003113]
synonym: "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome" EXACT [Orphanet:477]
synonym: "KID/HID syndrome" EXACT [Orphanet:477]
synonym: "Senter syndrome" EXACT [Orphanet:477]
xref: GARD:3113 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:477", source="Orphanet:477/attributed", source="Orphanet:477/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048786 {source="Orphanet:477", source="Orphanet:477/e"}
xref: MEDGEN:777082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536168 {source="MONDO:equivalentTo"}
xref: NANDO:1200621 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200996 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1326 {source="MONDO:NORD"}
xref: OMIMPS:148210 {source="MONDO:equivalentTo"}
xref: Orphanet:477 {source="MONDO:equivalentTo"}
xref: SCTID:2625009 {source="MONDO:equivalentTo"}
xref: UMLS:C3665333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777082"}
is_a: MONDO:0017666 {source="MONDO:0017669-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019287 {source="Orphanet:477"} ! ectodermal dysplasia syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:148210"} ! inherited

[Term]
id: MONDO:0018782
name: obsolete type 1 interferonopathy
subset: otar {source="MONDO:OTAR"}
xref: GARD:21957 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0700264

[Term]
id: MONDO:0018783
name: fibroblastic rheumatism
subset: gard_rare {source="GARD:21958", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477650"}
subset: orphanet_rare {source="Orphanet:477650"}
subset: rare
xref: GARD:21958 {source="MONDO:GARD"}
xref: icd11.foundation:112300601 {source="MONDO:equivalentTo", source="Orphanet:477650"}
xref: ICD9:729.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:724307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:477650 {source="MONDO:equivalentTo"}
xref: SCTID:399964004 {source="MONDO:equivalentTo"}
xref: UMLS:C1302753 {source="MONDO:equivalentTo", source="MEDGEN:724307", source="MONDO:MEDGEN"}
is_a: MONDO:0005554 {source="Orphanet:477650"} ! rheumatic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare

[Term]
id: MONDO:0018784
name: pediatric multiple sclerosis
def: "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported." [Orphanet:477738]
subset: gard_rare {source="GARD:10443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477738"}
subset: orphanet_rare {source="Orphanet:477738"}
subset: rare
synonym: "MS paediatric" RELATED OMO:0003005 []
synonym: "MS pediatric" RELATED [GARD:0010443]
synonym: "multiple sclerosis, paediatric" RELATED OMO:0003005 []
synonym: "multiple sclerosis, pediatric" RELATED [GARD:0010443]
synonym: "paediatric MS" RELATED OMO:0003005 []
synonym: "pediatric MS" RELATED [GARD:0010443]
xref: GARD:10443 {source="MONDO:GARD"}
xref: MEDGEN:1799994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:477738 {source="MONDO:equivalentTo"}
xref: UMLS:C5568571 {source="MEDGEN:1799994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0005301 {source="https://orcid.org/0000-0002-4142-7153"} ! multiple sclerosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis" xsd:anyURI {source="GARD:0010443"}

[Term]
id: MONDO:0018785
name: obsolete nodular fasciitis
def: "OBSOLETE. A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." [NCIT:C3827]
is_obsolete: true
replaced_by: MONDO:0004187

[Term]
id: MONDO:0018786
name: obsolete pontine autosomal dominant microangiopathy with leukoencephalopathy
subset: otar {source="MONDO:OTAR"}
xref: GARD:17855 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6368" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0032814

[Term]
id: MONDO:0018787
name: obsolete genetic cerebral small vessel disease
subset: ordo_group_of_disorders {source="Orphanet:477754"}
xref: GARD:21960 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477754 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0005385

[Term]
id: MONDO:0018788
name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease
subset: ordo_group_of_disorders {source="Orphanet:477759"}
subset: otar {source="MONDO:OTAR"}
synonym: "COL4A1 or COL4A2-related cerebral angiopathy" EXACT [Orphanet:477759]
xref: GARD:21961 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477759 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018789
name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease'
subset: ordo_group_of_disorders {source="Orphanet:477762"}
synonym: "COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency" EXACT [Orphanet:477762]
xref: GARD:21962 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477762 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0018788

[Term]
id: MONDO:0018790
name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease'
subset: ordo_group_of_disorders {source="Orphanet:477765"}
synonym: "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency" EXACT [Orphanet:477765]
xref: GARD:21963 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477765 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0018788

[Term]
id: MONDO:0018791
name: obsolete Moyomoya angiopathy
def: "OBSOLETE. A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels." [PMID:32089044]
subset: ordo_group_of_disorders {source="Orphanet:477768"}
xref: GARD:21964 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477768 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018792
name: obsolete Moyamoya syndrome
comment: Redundant with moyamoya disease, and the children were incorrectly classified as moyamoya syndrome, as they only had features of moyamoya angiopathy.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:477771"}
synonym: "rare disorder with a Moyamoya angiopathy" RELATED [Orphanet:477771]
xref: GARD:21965 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477771 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1767" xsd:anyURI
is_obsolete: true
consider: MONDO:0016820

[Term]
id: MONDO:0018793
name: primary condylar hyperplasia
subset: gard_rare {source="GARD:21966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477781"}
subset: orphanet_rare {source="Orphanet:477781"}
subset: rare
synonym: "type 1 condylar hyperplasia" EXACT [Orphanet:477781]
xref: GARD:21966 {source="MONDO:GARD"}
xref: MEDGEN:1799993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:477781 {source="MONDO:equivalentTo"}
xref: UMLS:C5568570 {source="MONDO:equivalentTo", source="MEDGEN:1799993", source="MONDO:MEDGEN"}
is_a: MONDO:0005473 {source="PMID:18778456", source="https://orcid.org/0009-0001-6494-4831"} ! temporomandibular joint disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0018794
name: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17857", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:477787"}
subset: orphanet_rare {source="Orphanet:477787"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" EXACT CLINGEN_LABEL []
synonym: "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS" RELATED [OMIM:618372]
synonym: "GURDP" RELATED ABBREVIATION [OMIM:618372]
synonym: "Phospholipase A2, Group Iva, Deficiency of" RELATED [OMIM:618372]
synonym: "PLA2G4A-related platelet dysfunction" EXACT [Orphanet:477787]
synonym: "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" EXACT [Orphanet:477787]
xref: GARD:17857 {source="MONDO:GARD"}
xref: MEDGEN:1799074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618372 {source="MONDO:equivalentTo"}
xref: Orphanet:477787 {source="MONDO:equivalentTo", source="OMIM:618372"}
xref: UMLS:C5567651 {source="MEDGEN:1799074", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="MONDO:0017142-obsoleted"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0005020 {source="Orphanet:477787"} ! intestinal disorder
is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015616"} ! rare

[Term]
id: MONDO:0018795
name: syndromic constitutional thrombocytopenia
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:21967", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:477794"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "syndromic constitutional thrombocytopenia" EXACT CLINGEN_LABEL [Orphanet:477794]
xref: GARD:21967 {source="MONDO:GARD"}
xref: MEDGEN:1843101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:477794 {source="MONDO:equivalentTo"}
xref: UMLS:C5681257 {source="MEDGEN:1843101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100241 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited thrombocytopenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5518" xsd:anyURI

[Term]
id: MONDO:0018796
name: obsolete isolated constitutional thrombocytopenia
subset: ordo_group_of_disorders {source="Orphanet:477797"}
synonym: "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation" EXACT [Orphanet:477797]
synonym: "non-syndromic constitutional thrombocytopenia" EXACT [Orphanet:477797]
xref: GARD:21968 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477797 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018797
name: obsolete genetic cardiac malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:477805"}
xref: GARD:21969 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477805 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1175" xsd:anyURI
is_obsolete: true
consider: MONDO:0005453

[Term]
id: MONDO:0018798
name: obsolete other genetic dermis disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:477808"}
xref: GARD:21970 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477808 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018799
name: obsolete rare hypercholesterolemia
def: "OBSOLETE. Rare hypercholesterolemia." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:477811"}
synonym: "rare hypercholesterolemia" EXACT []
xref: GARD:21971 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:477811 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0018800
name: Kallmann syndrome
def: "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." [Orphanet:478]
subset: gard_rare {source="GARD:10771", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1319", source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:478"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital hypogonadotropic hypogonadism with anosmia" EXACT [Orphanet:478]
synonym: "familial hypogonadism with anosmia" EXACT [DOID:3614]
synonym: "hypogonadism with anosmia" EXACT [DOID:3614]
synonym: "hypogonadotropic hypogonadism with anosmia" EXACT [NCIT:C75479]
synonym: "Kallman syndrome" EXACT [DOID:3614]
synonym: "Kallman's syndrome" EXACT [DOID:3614]
synonym: "Olfacto-genital pathological sequence" EXACT [Orphanet:478]
xref: DOID:3614 {source="MONDO:equivalentTo"}
xref: GARD:10771 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:478", source="MONDO:relatedTo", source="Orphanet:478/ntbt", source="DOID:3614", source="Orphanet:478/inclusion"}
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10053142 {source="Orphanet:478", source="Orphanet:478/e"}
xref: MEDGEN:102469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017436 {source="Orphanet:478", source="MONDO:equivalentTo", source="Orphanet:478/e", source="DOID:3614"}
xref: NANDO:2200381 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75479 {source="MONDO:equivalentTo", source="DOID:3614"}
xref: NORD:1319 {source="MONDO:NORD"}
xref: Orphanet:478 {source="MONDO:equivalentTo", source="DOID:3614"}
xref: SCTID:190559001 {source="DOID:3614"}
xref: SCTID:33927004 {source="DOID:3614"}
xref: SCTID:93559003 {source="MONDO:equivalentTo", source="DOID:3614"}
xref: UMLS:C0162809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102469"}
is_a: MONDO:0002254 {source="NCIT:C75479"} ! syndromic disease
is_a: MONDO:0018555 {source="DOID:3614", source="NCIT:C75479"} ! hypogonadotropic hypogonadism
relationship: disease_has_feature HP:0000789 {source="MONDO:Wikidata"} ! Infertility
relationship: disease_has_feature HP:0000939 {source="MONDO:Wikidata"} ! Osteoporosis

[Term]
id: MONDO:0018801
name: congenital bilateral absence of vas deferens
def: "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility." [Orphanet:48]
subset: gard_rare {source="GARD:5461", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:48"}
subset: ordo_morphological_anomaly {source="Orphanet:48"}
subset: orphanet_rare {source="Orphanet:48"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital bilateral agenesis of vas deferens" EXACT [Orphanet:48]
synonym: "congenital bilateral aplasia of vas deferens" EXACT [Orphanet:48]
xref: DOID:0111862 {source="MONDO:equivalentTo"}
xref: GARD:5461 {source="MONDO:GARD"}
xref: ICD10CM:Q55.4 {source="Orphanet:48", source="Orphanet:48/attributed", source="Orphanet:48/ntbt"}
xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10010670 {source="Orphanet:48", source="Orphanet:48/e"}
xref: MEDGEN:400764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535984 {source="Orphanet:48", source="Orphanet:48/e"}
xref: OMIMPS:277180 {source="MONDO:equivalentTo"}
xref: Orphanet:48 {source="MONDO:equivalentTo"}
xref: SCTID:275416002 {source="MONDO:equivalentTo"}
xref: UMLS:C1865433 {source="MONDO:equivalentTo", source="MEDGEN:400764", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="https://orcid.org/0000-0002-5002-8648"} ! male reproductive system disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:277180"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0018804
name: MYO5B-related progressive familial intrahepatic cholestasis
subset: gard_rare {source="GARD:21972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:480491"}
subset: rare
synonym: "MYO5B deficiency" EXACT [Orphanet:480491]
xref: GARD:21972 {source="MONDO:GARD"}
xref: MEDGEN:1826070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480491 {source="MONDO:equivalentTo"}
xref: UMLS:C5680100 {source="MEDGEN:1826070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015762 {source="Orphanet:480491"} ! progressive familial intrahepatic cholestasis

[Term]
id: MONDO:0018805
name: bile duct cyst
def: "Cystic dilatation of the hepatic duct or bile duct." [NCIT:P378]
subset: gard_rare {source="GARD:21973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480501"}
subset: ordo_morphological_anomaly {source="Orphanet:480501"}
subset: orphanet_rare {source="Orphanet:480501"}
subset: rare
synonym: "bile duct cysts" EXACT [OMIM:603003]
synonym: "choledochal cyst" EXACT [Orphanet:480501]
synonym: "choledochal cysts" EXACT [OMIM:603003]
synonym: "choledochocele" EXACT [OMIM:603003]
synonym: "congenital choledochal cyst" EXACT [DOID:899]
synonym: "congenital cystic dilatation of the biliary tract" EXACT [Orphanet:480501]
xref: DOID:899 {source="MONDO:equivalentTo"}
xref: GARD:21973 {source="MONDO:GARD"}
xref: ICD10CM:Q44.4 {source="DOID:899", source="MONDO:equivalentTo"}
xref: icd11.foundation:819487805 {source="MONDO:equivalentTo", source="Orphanet:480501", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:576.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:751.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015529 {source="DOID:899", source="MONDO:equivalentTo"}
xref: NCIT:C2943 {source="DOID:899", source="MONDO:otherHierarchy"}
xref: OMIM:603003 {source="MONDO:equivalentTo"}
xref: Orphanet:480501 {source="MONDO:equivalentTo"}
xref: SCTID:30533003 {source="DOID:899"}
xref: SCTID:397868007 {source="DOID:899", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:398197009 {source="DOID:899"}
xref: SCTID:440471007 {source="DOID:899"}
xref: UMLS:C0008340 {source="MONDO:equivalentTo", source="MEDGEN:3037", source="MONDO:MEDGEN"}
is_a: MONDO:0002887 {source="DOID:899", source="MESH:D015529"} ! bile duct disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004868 {source="Orphanet:480501"} ! biliary tract disorder
is_a: MONDO:0005154 {source="https://orcid.org/0000-0002-5002-8648"} ! liver disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3613" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI

[Term]
id: MONDO:0018806
name: primary intrahepatic lithiasis
subset: gard_rare {source="GARD:21974", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480506"}
subset: orphanet_rare {source="Orphanet:480506"}
subset: rare
synonym: "PIHL" EXACT ABBREVIATION [Orphanet:480506]
synonym: "primary hepatolithiasis" EXACT [Orphanet:480506]
xref: GARD:21974 {source="MONDO:GARD"}
xref: MEDGEN:1814175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480506 {source="MONDO:equivalentTo"}
xref: UMLS:C5576557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814175"}
is_a: MONDO:0004868 {source="Orphanet:480506"} ! biliary tract disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare

[Term]
id: MONDO:0018807
name: idiopathic ductopenia
subset: gard_rare {source="GARD:21975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480512"}
subset: orphanet_rare {source="Orphanet:480512"}
subset: rare
synonym: "IAD" EXACT ABBREVIATION [Orphanet:480512]
synonym: "idiopathic adult ductopenia" EXACT [Orphanet:480512]
xref: GARD:21975 {source="MONDO:GARD"}
xref: MEDGEN:1814697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480512 {source="MONDO:equivalentTo"}
xref: UMLS:C5702661 {source="MEDGEN:1814697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004868 {source="Orphanet:480512"} ! biliary tract disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018808
name: Caroli syndrome
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:21976", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480520"}
subset: ordo_malformation_syndrome {source="Orphanet:480520"}
subset: orphanet_rare {source="Orphanet:480520"}
subset: rare
xref: DOID:0081394 {source="MONDO:equivalentTo"}
xref: GARD:21976 {source="MONDO:GARD"}
xref: MEDGEN:1814547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200934 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:480520 {source="MONDO:equivalentTo"}
xref: UMLS:C5700203 {source="MEDGEN:1814547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0004868 {source="PMID:17461493", source="https://orcid.org/0000-0002-3458-4839"} ! biliary tract disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018809
name: idiopathic peliosis hepatis
subset: gard_rare {source="GARD:21977", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480524"}
subset: orphanet_rare {source="Orphanet:480524"}
subset: rare
synonym: "idiopathic peliosis hepatitis" EXACT [Orphanet:480524]
xref: GARD:21977 {source="MONDO:GARD"}
xref: MEDGEN:1814452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480524 {source="MONDO:equivalentTo"}
xref: UMLS:C5680101 {source="MEDGEN:1814452", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002251 {source="Orphanet:480524"} ! hepatitis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018810
name: lethal hydranencephaly-diaphragmatic hernia syndrome
def: "Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated." [Orphanet:480528]
subset: gard_rare {source="GARD:21978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480528"}
subset: ordo_malformation_syndrome {source="Orphanet:480528"}
subset: orphanet_rare {source="Orphanet:480528"}
subset: rare
xref: GARD:21978 {source="MONDO:GARD"}
xref: MEDGEN:1798950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480528 {source="MONDO:equivalentTo"}
xref: UMLS:C5567527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798950"}
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:480528", source="Orphanet:480528/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0043009 {source="Orphanet:480528"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0018811
name: congenital portosystemic shunt
def: "Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors." [Orphanet:480531]
subset: gard_rare {source="GARD:21979", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480531"}
subset: ordo_morphological_anomaly {source="Orphanet:480531"}
subset: orphanet_rare {source="Orphanet:480531"}
subset: rare
synonym: "congenital portosystemic venous fistula" EXACT [Orphanet:480531]
xref: GARD:21979 {source="MONDO:GARD"}
xref: MEDGEN:712860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480531 {source="MONDO:equivalentTo"}
xref: UMLS:C1290495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:712860"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0018812
name: obsolete MSH3-related attenuated familial adenomatous polyposis
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:17868 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6909" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044300

[Term]
id: MONDO:0018813
name: high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
subset: gard_rare {source="GARD:21980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480541"}
subset: orphanet_rare {source="Orphanet:480541"}
subset: rare
xref: GARD:21980 {source="MONDO:GARD"}
xref: MEDGEN:1617477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480541 {source="MONDO:equivalentTo"}
xref: UMLS:C4524190 {source="MEDGEN:1617477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017595 {source="Orphanet:480541"} ! aggressive B-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0018814
name: non-SCID combined immunodeficiency
comment: Reason of obsoletion: grouping class - MONDO:excludeGroupingClass. Term to consider: combined immunodeficiency-MONDO:0015131
subset: disease_grouping
subset: gard_rare {source="GARD:21981", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:480549"}
subset: rare
synonym: "non-SCID" EXACT [Orphanet:480549]
synonym: "non-severe combined immunodeficiency" EXACT [Orphanet:480549]
xref: GARD:21981 {source="MONDO:GARD"}
xref: MEDGEN:1842865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480549 {source="MONDO:equivalentTo"}
xref: UMLS:C5680098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842865"}
is_a: MONDO:0015131 {source="Orphanet:480549"} ! combined immunodeficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/108" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/711" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7461" xsd:anyURI
property_value: IAO:0006012 "2024-06-01" xsd:string

[Term]
id: MONDO:0018815
name: aneurysmal bone cyst
def: "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." [NCIT:C3516]
subset: gard_rare {source="GARD:21982", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480553"}
subset: orphanet_rare {source="Orphanet:480553"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ABC" EXACT ABBREVIATION [NCIT:C3516]
synonym: "aneurysmal bone cyst" EXACT [MONDO:ambiguous]
synonym: "aneurysmal bone cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "aneurysmal bone cysts" EXACT [OMIM:606179]
synonym: "aneurysmal cyst of bone" EXACT [NCIT:C3516]
synonym: "aneurysmal cyst of the bone" EXACT [NCIT:C3516]
xref: EFO:1001760 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21982 {source="MONDO:GARD"}
xref: HP:0012063 {source="MONDO:otherHierarchy"}
xref: icd11.foundation:1603788294 {source="MONDO:equivalentTo", source="Orphanet:480553"}
xref: ICD9:733.22 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017824 {source="MONDO:equivalentTo"}
xref: NCIT:C3516 {source="MONDO:equivalentTo"}
xref: OMIM:606179 {source="MONDO:equivalentTo"}
xref: Orphanet:480553 {source="MONDO:equivalentTo"}
xref: SCTID:203468000 {source="MONDO:equivalentTo"}
xref: UMLS:C0152244 {source="MEDGEN:57758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:0011645", source="OMIM:606179"} ! hereditary disease
is_a: MONDO:0019060 {source="Orphanet:480553"} ! bone neoplasm
property_value: IAO:0000589 "aneurysmal bone cyst (disease)" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8646/aneurysmal-bone-cysts" xsd:anyURI {source="GARD:0008646"}

[Term]
id: MONDO:0018816
name: isolated neonatal sclerosing cholangitis
def: "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease." [Orphanet:480556]
subset: gard_rare {source="GARD:21983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480556"}
subset: orphanet_rare {source="Orphanet:480556"}
subset: rare
synonym: "NSC" RELATED ABBREVIATION [OMIM:617394]
synonym: "sclerosing cholangitis, neonatal" RELATED [OMIM:617394]
xref: GARD:21983 {source="MONDO:GARD"}
xref: MEDGEN:1393230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617394 {source="MONDO:equivalentTo"}
xref: Orphanet:480556 {source="MONDO:equivalentTo"}
xref: UMLS:C4479344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1393230"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018646 {source="Orphanet:480556"} ! sclerosing cholangitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018818
name: facial diplegia with paresthesias
subset: gard_rare {source="GARD:21984", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480701"}
subset: orphanet_rare {source="Orphanet:480701"}
subset: rare
synonym: "facial diplegia with paresthesias variant of GBS" EXACT [Orphanet:480701]
synonym: "facial diplegia with paresthesias variant of Guillain-Barre syndrome" EXACT [Orphanet:480701]
synonym: "facial diplegia with paresthesias variant of Guillain-Barré syndrome" EXACT [Orphanet:480701]
xref: GARD:21984 {source="MONDO:GARD"}
xref: MEDGEN:1798949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480701 {source="MONDO:equivalentTo"}
xref: UMLS:C5567526 {source="MEDGEN:1798949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016218 {source="PMID:25072194", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Guillain-Barre syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0018819
name: obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome
is_obsolete: true
replaced_by: MONDO:0009526

[Term]
id: MONDO:0018820
name: recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
def: "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." [Orphanet:480864]
subset: gard_rare {source="GARD:13423", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1944"}
subset: ordo_disorder {source="Orphanet:480864"}
subset: orphanet_rare {source="Orphanet:480864"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MECRCN" EXACT ABBREVIATION [OMIM:616878]
synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [OMIM:616878]
synonym: "TANGO2 deficiency" EXACT [PMID:31339582]
synonym: "TANGO2 Deficiency Disorder" EXACT [NORD:1944]
synonym: "transport and golgi organisation protein 2 (TANGO2) deficiency" EXACT OMO:0003005 []
synonym: "transport and golgi organization protein 2 (TANGO2) deficiency" EXACT [PMID:31339582]
xref: DOID:0081386 {source="MONDO:equivalentTo"}
xref: GARD:13423 {source="MONDO:GARD"}
xref: MEDGEN:1798947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1944 {source="MONDO:NORD"}
xref: OMIM:616878 {source="MONDO:equivalentTo"}
xref: Orphanet:480864 {source="MONDO:equivalentTo"}
xref: UMLS:C5567524 {source="MEDGEN:1798947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024237 {source="Orphanet:480864"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:480864", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25439 {source="MONDO:mim2gene_medgen"} ! TANGO2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias" xsd:anyURI {xref="GARD:0013423"}

[Term]
id: MONDO:0018821
name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
subset: gard_rare {source="GARD:13638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480880"}
subset: ordo_malformation_syndrome {source="Orphanet:480880"}
subset: orphanet_rare {source="Orphanet:480880"}
subset: rare
synonym: "X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females" EXACT [Orphanet:480880]
synonym: "X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females" EXACT [Orphanet:480880]
xref: GARD:13638 {source="MONDO:GARD"}
xref: MEDGEN:1798946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480880 {source="MONDO:equivalentTo"}
xref: UMLS:C5567523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798946"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:480880", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:480880", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0018822
name: global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
def: "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)." [Orphanet:480898]
subset: gard_rare {source="GARD:17871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480898"}
subset: orphanet_rare {source="Orphanet:480898"}
subset: rare
xref: GARD:17871 {source="MONDO:GARD"}
xref: MEDGEN:1798945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:480898 {source="MONDO:equivalentTo"}
xref: UMLS:C5567522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798945"}
is_a: MONDO:0005328 {source="Orphanet:480898"} ! eye disorder
is_a: MONDO:0015159 {source="Orphanet:480898"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:480898", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107", source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018823
name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
subset: gard_rare {source="GARD:17872", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:480907"}
subset: ordo_malformation_syndrome {source="Orphanet:480907"}
subset: orphanet_rare {source="Orphanet:480907"}
subset: rare
xref: GARD:17872 {source="MONDO:GARD"}
xref: Orphanet:480907 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:480907"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:480907", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018824
name: pyoderma gangrenosum
def: "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate." [Orphanet:48104]
subset: gard_rare {source="GARD:7510", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1638", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:48104"}
subset: orphanet_rare {source="Orphanet:48104"}
subset: rare
xref: DOID:8553 {source="MONDO:equivalentTo"}
xref: GARD:7510 {source="MONDO:GARD"}
xref: ICD10CM:L88 {source="Orphanet:48104/e", source="MONDO:equivalentTo", source="Orphanet:48104", source="DOID:8553"}
xref: icd11.foundation:2120746218 {source="MONDO:equivalentTo", source="Orphanet:48104"}
xref: ICD9:686.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8553"}
xref: MedDRA:10037635 {source="Orphanet:48104/e", source="Orphanet:48104"}
xref: MEDGEN:43224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017511 {source="Orphanet:48104/e", source="MONDO:equivalentTo", source="Orphanet:48104", source="DOID:8553"}
xref: NANDO:2200437 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1638 {source="MONDO:NORD"}
xref: Orphanet:48104 {source="MONDO:equivalentTo"}
xref: SCTID:74578003 {source="MONDO:equivalentTo", source="DOID:8553"}
xref: UMLS:C0085652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43224"}
is_a: MONDO:0002922 {source="DOID:8553", source="MESH:D017511"} ! pyoderma
is_a: MONDO:0019751 ! autoinflammatory syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum" xsd:anyURI {source="GARD:0007510"}

[Term]
id: MONDO:0018825
name: PYCR2-related microcephaly-progressive leukoencephalopathy
def: "PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders." [Orphanet:481152]
subset: gard_rare {source="GARD:17873", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:481152"}
subset: ordo_malformation_syndrome {source="Orphanet:481152"}
subset: orphanet_rare {source="Orphanet:481152"}
subset: rare
xref: GARD:17873 {source="MONDO:GARD"}
xref: Orphanet:481152 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:481152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:481152", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018826
name: Lewis-Sumner syndrome
def: "A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy." [Orphanet:48162]
subset: gard_rare {source="GARD:13070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:48162"}
subset: rare
synonym: "MADSAM" EXACT ABBREVIATION [Orphanet:48162]
synonym: "multifocal acquired demyelinating sensory and motor neuropathy" EXACT [Orphanet:48162]
xref: GARD:13070 {source="MONDO:GARD"}
xref: ICD10CM:G61.8 {source="Orphanet:48162/ntbt", source="Orphanet:48162"}
xref: MedDRA:10065580 {source="Orphanet:48162", source="Orphanet:48162/e"}
xref: MEDGEN:798498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:48162 {source="MONDO:equivalentTo"}
xref: UMLS:C1695985 {source="MEDGEN:798498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006702 {source="Orphanet:48162"} ! chronic inflammatory demyelinating polyradiculoneuropathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0007691 {source="Orphanet:48162", source="https://orcid.org/0000-0001-5208-3432"} ! Guillain-Barre syndrome, familial
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome" xsd:anyURI {source="GARD:0013070"}

[Term]
id: MONDO:0018827
name: familial chilblain lupus
def: "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:17874", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:481662"}
subset: orphanet_rare {source="Orphanet:481662"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary Chilblain lupus" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary chilblain lupus" EXACT [MONDO:patterns/hereditary]
xref: GARD:17874 {source="MONDO:GARD"}
xref: MEDGEN:1807766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:610448 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:481662 {source="MONDO:equivalentTo"}
xref: UMLS:C5688224 {source="MEDGEN:1807766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015574 {source="MONDO:Redundant", source="Orphanet:481662"} ! chronic cutaneous lupus erythematosus
is_a: MONDO:0957408 {source="Orphanet:481662", source="PMID:37161741"} ! type 1 interferonopathy of childhood
intersection_of: MONDO:0019557 ! chilblain lupus
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0019293 {source="MONDO:Redundant", source="Orphanet:481662", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610448"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0018828
name: pseudo-TORCH syndrome 2
subset: gard_rare {source="GARD:17875", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:481665"}
subset: orphanet_rare {source="Orphanet:481665"}
subset: rare
synonym: "pseudo-TORCH syndrome 2" EXACT [OMIM:617397]
synonym: "PTORCH2" RELATED ABBREVIATION [OMIM:617397]
synonym: "USP18 deficiency" RELATED [Orphanet:481665]
xref: GARD:17875 {source="MONDO:GARD"}
xref: MEDGEN:1373355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617397 {source="MONDO:equivalentTo", source="Orphanet:481665"}
xref: Orphanet:481665 {source="MONDO:equivalentTo", source="OMIM:617397"}
xref: UMLS:C4479376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373355"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0009626 {source="OMIM:617397"} ! pseudo-TORCH syndrome
is_a: MONDO:0957408 {source="Orphanet:481665", source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617397", source="Orphanet:481665"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0018829
name: familial schizencephaly
def: "An instance of schizencephaly that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559)
subset: gard_rare {source="GARD:17876", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:481986"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:481986"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial schizencephaly" EXACT [GARD:0000166]
synonym: "hereditary schizencephaly" EXACT [MONDO:patterns/hereditary]
xref: GARD:17876 {source="MONDO:GARD"}
xref: MEDGEN:419186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538514 {source="MONDO:equivalentTo"}
xref: Orphanet:481986 {source="MONDO:equivalentTo"}
xref: UMLS:C2931870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419186"}
is_a: MONDO:0010011 {source="MONDO:Redundant", source="Orphanet:481986"} ! schizencephaly
is_a: MONDO:0800461 {source="https://clinicalgenome.org/affiliation/40060/"} ! COL4A1-related disorder
intersection_of: MONDO:0010011 ! schizencephaly
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0018830
name: Kimura disease
def: "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." [Orphanet:482]
subset: gard_rare {source="GARD:6835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:482"}
subset: orphanet_rare {source="Orphanet:482"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiolymphoid hyperplasia with eosinophilia" RELATED [GARD:0006835]
synonym: "eosinophilic granuloma of soft tissue" RELATED [GARD:0006835]
synonym: "eosinophilic hyperplastic lymphogranuloma" RELATED [GARD:0006835]
synonym: "eosinophilic lymphofollicular granuloma" RELATED [GARD:0006835]
synonym: "eosinophilic lymphofolliculosis" RELATED [GARD:0006835]
synonym: "eosinophilic lymphogranuloma" EXACT [Orphanet:482]
synonym: "Kimura's disease" EXACT [DOID:7365, NCIT:C26867]
xref: DOID:7365 {source="MONDO:equivalentTo", source="EFO:1000722"}
xref: EFO:1000722 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6835 {source="MONDO:GARD"}
xref: ICD10CM:I89.8 {source="Orphanet:482/ntbt", source="Orphanet:482"}
xref: MedDRA:10048640 {source="Orphanet:482/e", source="Orphanet:482"}
xref: MEDGEN:46183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000082242 {source="MONDO:equivalentTo"}
xref: MESH:D000796 {source="Orphanet:482/e", source="MONDO:equivalentTo", source="Orphanet:482", source="DOID:7365"}
xref: NCIT:C26867 {source="MONDO:equivalentTo", source="DOID:7365"}
xref: Orphanet:482 {source="MONDO:equivalentTo"}
xref: SCTID:254791004 {source="DOID:7365"}
xref: SCTID:399894006 {source="DOID:7365"}
xref: SCTID:69484003 {source="DOID:7365"}
xref: UMLS:C0033838 {source="MEDGEN:46183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Kimura's_disease {source="EFO:1000722"}
is_a: MONDO:0002052 {source="https://orcid.org/0000-0002-1780-5230"} ! lymphadenitis
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-1780-5230"} ! autoimmune disease
relationship: excluded_subClassOf MONDO:0005093 {source="DOID:7365", source="EFO:1000722", source="MESH:D000796", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3599" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6835/kimura-disease" xsd:anyURI {source="GARD:0006835"}

[Term]
id: MONDO:0018831
name: obsolete HTRA1-related cerebral small vessel disease
subset: ordo_group_of_disorders {source="Orphanet:482072"}
subset: otar {source="MONDO:OTAR"}
synonym: "HTRA1-related cerebral angiopathy" EXACT [Orphanet:482072]
xref: GARD:21988 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:482072 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018832
name: HTRA1-related autosomal dominant cerebral small vessel disease
subset: gard_rare {source="GARD:17877", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:482077"}
subset: orphanet_rare {source="Orphanet:482077"}
subset: rare
synonym: "HTRA1-related autosomal dominant cerebral angiopathy" EXACT [Orphanet:482077]
xref: GARD:17877 {source="MONDO:GARD"}
xref: MEDGEN:1799991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:482077 {source="MONDO:equivalentTo"}
xref: UMLS:C5568568 {source="MEDGEN:1799991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0011057 {source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0000-0002-4142-7153"} ! cerebrovascular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0018833
name: obsolete rare idiopathic macular telangiectasia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:482092"}
xref: GARD:21989 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:482092 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018834
name: obsolete adenylosuccinate synthetase-like 1-related distal myopathy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5762" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014877

[Term]
id: MONDO:0018835
name: nodular regenerative hyperplasia of the liver
def: "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins." [Orphanet:48372]
subset: gard_rare {source="GARD:10929", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:48372"}
subset: rare
synonym: "miliary hepatocellular adenomatosis" RELATED [GARD:0010929]
synonym: "nodular regenerative hyperplasia" RELATED [GARD:0010929]
synonym: "non-cirrhotic nodular transformation" RELATED [GARD:0010929]
synonym: "non-cirrhotic nodulation" EXACT [Orphanet:48372]
synonym: "non-cirrhotic portal hypertension" RELATED [GARD:0010929]
xref: GARD:10929 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:48372", source="Orphanet:48372/ntbt"}
xref: icd11.foundation:1642018758 {source="MONDO:equivalentTo", source="Orphanet:48372", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:573.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1830387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:48372 {source="MONDO:equivalentTo"}
xref: SCTID:715140008 {source="MONDO:equivalentTo"}
xref: UMLS:C5779783 {source="MEDGEN:1830387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005154 ! liver disorder
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare

[Term]
id: MONDO:0018836
name: obsolete subcorneal pustular dermatosis
is_obsolete: true
replaced_by: MONDO:0006614

[Term]
id: MONDO:0018837
name: postinfectious vasculitis
def: "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." [Orphanet:48435]
subset: gard_rare {source="GARD:18835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:48435"}
subset: orphanet_rare {source="Orphanet:48435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18835 {source="MONDO:GARD"}
xref: ICD10CM:I77.6 {source="Orphanet:48435/ntbt", source="Orphanet:48435"}
xref: MEDGEN:1376009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:48435 {source="MONDO:equivalentTo"}
xref: SCTID:724063005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510302 {source="MEDGEN:1376009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018640 {source="Orphanet:48435"} ! secondary vasculitis
is_a: MONDO:0018882 {source="https://orcid.org/0000-0001-5208-3432"} ! vasculitis
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI

[Term]
id: MONDO:0018838
name: lissencephaly spectrum disorders
def: "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis." [Orphanet:48471]
comment: Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. {xref="PMID:28440899", xref="PMID:20331703"}
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12291", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1374"}
subset: ordo_group_of_disorders {source="Orphanet:48471"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Broad gyri of cerebrum" RELATED [GARD:0007300]
synonym: "large gyri of cerebrum" RELATED [GARD:0007300]
synonym: "Lissencephaly" EXACT [NORD:1374]
synonym: "lissencephaly" EXACT [MONDO:ambiguous]
synonym: "lissencephaly (disease)" EXACT [https://github.com/monarch-initiative/mondo/issues/1312]
synonym: "lissencephaly spectrum disorders" EXACT CLINGEN_LABEL []
synonym: "macrogyria" RELATED [GARD:0007300]
synonym: "pachygyria" RELATED [GARD:0007300]
xref: DOID:0050453 {source="MONDO:equivalentTo"}
xref: GARD:12291 {source="MONDO:GARD"}
xref: HP:0001339 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q04.3 {source="Orphanet:48471/inclusion", source="DOID:0050453", source="Orphanet:48471", source="Orphanet:48471/ntbt"}
xref: ICD10CM:Q04.8 {source="DOID:0050453"}
xref: MedDRA:10048911 {source="Orphanet:48471", source="Orphanet:48471/e"}
xref: MEDGEN:78604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054082 {source="DOID:0050453", source="MONDO:equivalentTo", source="Orphanet:48471", source="Orphanet:48471/e"}
xref: NANDO:1200574 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200817 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C103921 {source="DOID:0050453", source="MONDO:equivalentTo"}
xref: NORD:1374 {source="MONDO:NORD"}
xref: OMIMPS:607432 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:102009 {source="DOID:0050453"}
xref: Orphanet:48471 {source="MONDO:equivalentTo"}
xref: SCTID:204036008 {source="DOID:0050453", source="MONDO:equivalentTo"}
xref: SCTID:23024003 {source="DOID:0050453"}
xref: UMLS:C0266463 {source="MEDGEN:78604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="DOID:0050453", source="MONDO:indirect"} ! congenital nervous system disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:48471", source="Orphanet:48471/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_major_feature HP:0001339 ! Lissencephaly
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:48471", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607432"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1312" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018839
name: acquired schizencephaly
def: "An instance of schizencephaly that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="GARD:17879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:485275"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:485275"}
subset: rare
synonym: "acquired schizencephaly" EXACT [MONDO:patterns/acquired]
xref: GARD:17879 {source="MONDO:GARD"}
xref: MEDGEN:1825983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:485275 {source="MONDO:equivalentTo"}
xref: UMLS:C5681246 {source="MEDGEN:1825983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010011 {source="MONDO:Redundant", source="Orphanet:485275"} ! schizencephaly
intersection_of: MONDO:0010011 ! schizencephaly
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0018840
name: isolated congenital hepatic fibrosis
def: "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts." [NCIT:C97071]
subset: gard_rare {source="GARD:21995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1225"}
subset: ordo_disorder {source="Orphanet:485426"}
subset: orphanet_rare {source="Orphanet:485426"}
subset: rare
synonym: "congenital fibrose liver" RELATED [MESH:C562378]
synonym: "Congenital Hepatic Fibrosis" EXACT [NORD:1225]
synonym: "congenital hepatic fibrosis" EXACT [MESH:C562378, NCIT:C97071]
synonym: "isolated CHF" BROAD AMBIGUOUS [Orphanet:485426]
synonym: "nonsyndromic congenital hepatic fibrosis" EXACT [MONDO:patterns/isolated]
xref: GARD:21995 {source="MONDO:GARD"}
xref: ICD9:777.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:40449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562378 {source="MONDO:equivalentTo"}
xref: NANDO:2100267 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200936 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C97071 {source="MONDO:equivalentTo"}
xref: NORD:1225 {source="MONDO:NORD"}
xref: Orphanet:485426 {source="MONDO:equivalentTo"}
xref: SCTID:79607001 {source="MONDO:equivalentTo"}
xref: UMLS:C0009714 {source="MONDO:equivalentTo", source="MEDGEN:40449", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C562378"} ! hereditary disease
is_a: MONDO:0004868 {source="Orphanet:485426"} ! biliary tract disorder
is_a: MONDO:0005155 {source="MESH:C562378"} ! cirrhosis of liver
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6168/congenital-hepatic-fibrosis" xsd:anyURI {source="GARD:0006168"}

[Term]
id: MONDO:0018841
name: congenital bile acid synthesis defect
subset: disease_grouping
subset: gard_rare {source="GARD:21996", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:485631"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" RELATED EXCLUDE [DOID:0050674]
synonym: "BASD" EXACT ABBREVIATION [Orphanet:485631]
synonym: "bile acid synthesis defect, congenital" EXACT [OMIMPS:607765]
synonym: "CBA" EXACT ABBREVIATION [DOID:0050674]
synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" NARROW [DOID:0050674]
xref: DOID:0050674 {source="MONDO:equivalentTo"}
xref: EFO:0009039 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:21996 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="DOID:0050674"}
xref: MEDGEN:1826069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:607765 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:485631 {source="MONDO:equivalentTo"}
xref: UMLS:C5680095 {source="MEDGEN:1826069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005523 {source="DOID:0050674"} ! steroid inherited metabolic disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607765"} ! inherited

[Term]
id: MONDO:0018842
name: primary effusion lymphoma
def: "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." [Orphanet:48686]
subset: gard_rare {source="GARD:9247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:48686"}
subset: orphanet_rare {source="Orphanet:48686"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIDS-related lymphoma" RELATED [GARD:0009247]
synonym: "body cavity-based lymphoma" EXACT [NCIT:C6915, Orphanet:48686]
synonym: "PEL" EXACT ABBREVIATION [NCIT:C6915, ONCOTREE:PEL, Orphanet:48686]
synonym: "primary Effusion Lymphoma" EXACT [MONDO:0006384, NCIT:C6915]
xref: EFO:1000491 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9247 {source="MONDO:GARD"}
xref: ICD10CM:C83.8 {source="Orphanet:48686/ntbt", source="Orphanet:48686"}
xref: icd11.foundation:697911710 {source="MONDO:equivalentTo", source="Orphanet:48686"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9678/3 {source="NCIT:C6915"}
xref: MedDRA:10065857 {source="Orphanet:48686/e", source="Orphanet:48686"}
xref: MEDGEN:220953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054685 {source="Orphanet:48686/e", source="MONDO:equivalentTo", source="Orphanet:48686"}
xref: NCIT:C6915 {source="EFO:1000491", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PEL {source="MONDO:equivalentTo"}
xref: Orphanet:48686 {source="MONDO:equivalentTo"}
xref: SCTID:713516007 {source="MONDO:equivalentTo"}
xref: UMLS:C1292753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220953"}
is_a: MONDO:0015157 {source="Orphanet:48686"} ! human herpesvirus 8-related tumor
is_a: MONDO:0017343 {source="Orphanet:48686"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0017595 {source="MONDO:Redundant", source="Orphanet:48686"} ! aggressive B-cell non-Hodgkin lymphoma
is_a: MONDO:0018905 {source="NCIT:C6915"} ! diffuse large B-cell lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma" xsd:anyURI {source="GARD:0009247"}

[Term]
id: MONDO:0018843
name: embryonal carcinoma of the central nervous system
def: "A embryonal carcinoma that involves the central nervous system." [MONDO:patterns/location]
subset: gard_rare {source="GARD:18836", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:48736"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system embryonal carcinoma" EXACT [MONDO:0004154, MONDO:patterns/location, NCIT:C7010]
synonym: "embryonal carcinoma" RELATED [ONCOTREE:BEC]
synonym: "embryonal carcinoma of CNS" EXACT [DOID:7232, NCIT:C7010]
synonym: "embryonal carcinoma of the central nervous system" EXACT [DOID:7232, NCIT:C7010]
synonym: "embryonal carcinoma of the CNS" EXACT [Orphanet:48736]
xref: DOID:7232 {source="MONDO:equivalentTo"}
xref: GARD:18836 {source="MONDO:GARD"}
xref: ICD10CM:C71.9 {source="Orphanet:48736/ntbt", source="Orphanet:48736"}
xref: MEDGEN:272566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7010 {source="MONDO:equivalentTo", source="DOID:7232"}
xref: ONCOTREE:BEC {source="MONDO:equivalentTo"}
xref: Orphanet:48736 {source="MONDO:equivalentTo"}
xref: UMLS:C1333377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272566"}
is_a: MONDO:0002714 {source="DOID:7232/inferred", source="MONDO:Redundant", source="NCIT:C7010/inferred"} ! central nervous system cancer
is_a: MONDO:0003000 {source="DOID:7232", source="MONDO:Redundant", source="NCIT:C7010/inferred"} ! central nervous system germ cell tumor
is_a: MONDO:0005440 {source="DOID:7232", source="MONDO:Redundant", source="NCIT:C7010/inferred", source="Orphanet:48736"} ! embryonal carcinoma
intersection_of: MONDO:0005440 ! embryonal carcinoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0018844
name: urachal cyst
def: "Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever." [Orphanet:488]
subset: gard_rare {source="GARD:5425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488"}
subset: ordo_morphological_anomaly {source="Orphanet:488"}
subset: orphanet_rare {source="Orphanet:488"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "urachal cyst" EXACT [MONDO:ambiguous]
synonym: "urachal cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:5425 {source="MONDO:GARD"}
xref: HP:0012618 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q64.4 {source="Orphanet:488", source="Orphanet:488/ntbt"}
xref: MedDRA:10065375 {source="Orphanet:488", source="Orphanet:488/e"}
xref: MEDGEN:21770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014496 {source="Orphanet:488", source="MONDO:equivalentTo", source="Orphanet:488/e"}
xref: NCIT:C85216 {source="MONDO:equivalentTo"}
xref: Orphanet:488 {source="MONDO:equivalentTo"}
xref: SCTID:17234001 {source="MONDO:equivalentTo"}
xref: UMLS:C0041915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21770"}
is_a: MONDO:0018565 {source="Orphanet:488"} ! congenital urachal anomaly
property_value: IAO:0000589 "urachal cyst (disease)" xsd:string

[Term]
id: MONDO:0018845
name: focal myositis
def: "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities." [Orphanet:48918]
subset: gard_rare {source="GARD:18837", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:48918"}
subset: orphanet_rare {source="Orphanet:48918"}
subset: rare
synonym: "focal nodular myositis" EXACT [Orphanet:48918]
synonym: "inflammatory pseudotumor of skeletal muscle" EXACT [Orphanet:48918]
xref: GARD:18837 {source="MONDO:GARD"}
xref: ICD10CM:M60.8 {source="Orphanet:48918", source="Orphanet:48918/ntbt"}
xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:592748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:48918 {source="MONDO:equivalentTo"}
xref: SCTID:240119009 {source="MONDO:equivalentTo"}
xref: UMLS:C0409988 {source="MEDGEN:592748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020122 {source="Orphanet:48918"} ! acquired idiopathic inflammatory myopathy

[Term]
id: MONDO:0018846
name: penile agenesis
def: "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities." [NCIT:C99009]
subset: gard_rare {source="GARD:4272", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:49"}
subset: ordo_morphological_anomaly {source="Orphanet:49"}
subset: orphanet_rare {source="Orphanet:49"}
subset: rare
synonym: "agenesis of the penis" RELATED [GARD:0004272]
synonym: "Aphallia" EXACT [Orphanet:49]
synonym: "Aphallus" EXACT [NCIT:C99009]
synonym: "congenital absence of penis" EXACT [NCIT:C99009]
synonym: "micropenis" RELATED [GARD:0004272]
synonym: "penis agenesia" RELATED [GARD:0004272]
synonym: "penis agenesis" EXACT [Orphanet:49]
xref: GARD:4272 {source="MONDO:GARD"}
xref: ICD10CM:Q55.5 {source="Orphanet:49", source="Orphanet:49/e"}
xref: MEDGEN:278031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536649 {source="MONDO:equivalentTo", source="Orphanet:49", source="Orphanet:49/e"}
xref: NCIT:C99009 {source="MONDO:equivalentTo"}
xref: Orphanet:49 {source="MONDO:equivalentTo"}
xref: SCTID:59981001 {source="MONDO:equivalentTo"}
xref: UMLS:C1387005 {source="MEDGEN:278031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020040 {source="Orphanet:49"} ! 46,XY disorder of sex development

[Term]
id: MONDO:0018847
name: omphalomesenteric cyst
subset: gard_rare {source="GARD:4081", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:490"}
subset: ordo_morphological_anomaly {source="Orphanet:490"}
subset: orphanet_rare {source="Orphanet:490"}
subset: rare
xref: GARD:4081 {source="MONDO:GARD"}
xref: ICD10CM:Q43.0 {source="Orphanet:490", source="Orphanet:490/ntbt"}
xref: MEDGEN:120570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:490 {source="MONDO:equivalentTo"}
xref: SCTID:80880002 {source="MONDO:equivalentTo"}
xref: UMLS:C0266180 {source="MEDGEN:120570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100298 {source="https://orcid.org/0000-0001-5208-3432"} ! abdominal wall malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst" xsd:anyURI {source="GARD:0004081"}

[Term]
id: MONDO:0018848
name: IgG4-related retroperitoneal fibrosis
def: "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." [Orphanet:49041]
comment: Editor note: TODO consider splitting out RF as separate term
subset: gard_rare {source="GARD:9568", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1665"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:49041"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic retroperitoneal fibrosis" EXACT [Orphanet:49041]
synonym: "Ormond disease" EXACT [Orphanet:49041]
synonym: "Ormond's disease" RELATED [GARD:0009568]
synonym: "Retroperitoneal Fibrosis" EXACT [NORD:1665]
synonym: "retroperitoneal fibrosis" EXACT [GARD:0009568, NCIT:C26876]
xref: GARD:9568 {source="MONDO:GARD"}
xref: ICD10CM:N13.5 {source="Orphanet:49041/ntbt", source="Orphanet:49041"}
xref: ICD9:593.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10038979 {source="Orphanet:49041", source="Orphanet:49041/e"}
xref: MEDGEN:20554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012185 {source="Orphanet:49041", source="MONDO:equivalentTo", source="Orphanet:49041/e"}
xref: NCIT:C26876 {source="MONDO:equivalentTo"}
xref: NORD:1665 {source="MONDO:NORD"}
xref: Orphanet:49041 {source="MONDO:equivalentTo"}
xref: SCTID:197808006 {source="MONDO:equivalentTo"}
xref: UMLS:C0035357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20554"}
is_a: MONDO:0017287 {source="Orphanet:49041"} ! IgG4-related disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare

[Term]
id: MONDO:0018849
name: dentinogenesis imperfecta
def: "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development." [Orphanet:49042]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6258", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:49042"}
subset: orphanet_rare {source="Orphanet:49042"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dentinogenesis imperfecta" EXACT CLINGEN_LABEL [MONDO:0002895, MONDO:ambiguous]
synonym: "dentinogenesis imperfecta (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" EXACT [Orphanet:49042]
synonym: "DGI" EXACT ABBREVIATION [Orphanet:49042]
synonym: "DGI without OI" EXACT [Orphanet:49042]
synonym: "DI" EXACT ABBREVIATION [Orphanet:49042]
synonym: "non-syndromic dentinogenesis imperfecta" EXACT [Orphanet:49042]
synonym: "non-syndromic DGI" EXACT [Orphanet:49042]
synonym: "opalescent teeth without OI" EXACT [Orphanet:49042]
synonym: "opalescent teeth without osteogenesis imperfecta" EXACT [Orphanet:49042]
xref: DOID:4154 {source="MONDO:equivalentTo"}
xref: GARD:6258 {source="MONDO:GARD"}
xref: HP:0000703 {source="MONDO:otherHierarchy"}
xref: ICD10CM:K00.5 {source="Orphanet:49042/ntbt", source="Orphanet:49042/inclusion", source="Orphanet:49042", source="DOID:4154"}
xref: icd11.foundation:2090257992 {source="Orphanet:49042", source="MONDO:equivalentTo"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10054013 {source="Orphanet:49042", source="Orphanet:49042/e"}
xref: MEDGEN:8313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003811 {source="Orphanet:49042", source="MONDO:equivalentTo", source="Orphanet:49042/e", source="DOID:4154"}
xref: NCIT:C84667 {source="MONDO:equivalentTo", source="DOID:4154"}
xref: Orphanet:49042 {source="MONDO:equivalentTo"}
xref: SCTID:196286005 {source="MONDO:equivalentTo", source="DOID:4154"}
xref: SCTID:367461002 {source="DOID:4154"}
xref: SCTID:45742009 {source="DOID:4154"}
xref: UMLS:C0011436 {source="MEDGEN:8313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006999 {source="DOID:4154", source="MESH:D003811/inferred"} ! tooth disorder
property_value: IAO:0000589 "dentinogenesis imperfecta (disease)" xsd:string

[Term]
id: MONDO:0018850
name: proliferating trichilemmal cyst
def: "Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues." [Orphanet:492]
subset: gard_rare {source="GARD:4509", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:492"}
subset: orphanet_rare {source="Orphanet:492"}
subset: rare
synonym: "Pilar cyst" EXACT [NCIT:C27125]
synonym: "Pilar tumor" EXACT [NCIT:C27125]
synonym: "Pilar tumour" EXACT OMO:0003005 []
synonym: "proliferating pilar cyst" RELATED [GARD:0004509]
synonym: "proliferating pilar cystic tumor" RELATED [ONCOTREE:PPCT]
synonym: "proliferating pilar cystic tumour" RELATED OMO:0003005 []
synonym: "proliferating Pilar tumor" EXACT [NCIT:C27125]
synonym: "proliferating Pilar tumour" EXACT OMO:0003005 []
synonym: "proliferating trichilemmal tumor" EXACT [NCIT:C27125]
synonym: "proliferating trichilemmal tumour" EXACT OMO:0003005 []
synonym: "proliferating Tricholemmal tumor" EXACT [NCIT:C27125]
synonym: "proliferating Tricholemmal tumour" EXACT OMO:0003005 []
xref: GARD:4509 {source="MONDO:GARD"}
xref: ICD10CM:L72.1 {source="Orphanet:492", source="Orphanet:492/ntbt"}
xref: ICDO:8103/0 {source="NCIT:C27125"}
xref: ICDO:8103/1 {source="NCIT:C27125"}
xref: MEDGEN:754766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27125 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PPCT {source="MONDO:equivalentTo"}
xref: Orphanet:492 {source="MONDO:equivalentTo"}
xref: SCTID:254678009 {source="MONDO:equivalentTo"}
xref: UMLS:C2959585 {source="MONDO:equivalentTo", source="MEDGEN:754766", source="MONDO:MEDGEN"}
is_a: MONDO:0003413 {source="NCIT:C43324/inferred"} ! hair follicle neoplasm
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:492", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst" xsd:anyURI {source="GARD:0004509"}

[Term]
id: MONDO:0018851
name: familial keratoacanthoma
def: "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." [Orphanet:493]
comment: Editor note: consider adding subtypes
subset: gard_rare {source="GARD:18693", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:493"}
subset: orphanet_rare {source="Orphanet:493"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary keratoacanthoma" EXACT [MONDO:patterns/hereditary, Orphanet:493]
synonym: "multiple keratoacanthoma" EXACT [Orphanet:493]
xref: GARD:18693 {source="MONDO:GARD"}
xref: ICD10CM:L85.8 {source="Orphanet:493/attributed", source="Orphanet:493/ntbt", source="Orphanet:493"}
xref: Orphanet:493 {source="MONDO:equivalentTo"}
xref: SCTID:716774008 {source="MONDO:equivalentTo"}
is_a: MONDO:0002527 {source="MONDO:Redundant"} ! keratoacanthoma
is_a: MONDO:0003847 {source="MONDO:Entailed", source="Orphanet:493/inferred"} ! hereditary disease
intersection_of: MONDO:0002527 ! keratoacanthoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: disease_has_feature MONDO:0020173 {source="Orphanet:493"} ! benign tumor of palpebral epidermis
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:493", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0018852
name: achromatopsia
def: "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." [Orphanet:49382]
comment: Editor note: we include incomplete forms here, such as BCM
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:49382"}
subset: orphanet_rare {source="Orphanet:49382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACHM" EXACT ABBREVIATION [DOID:13911, Orphanet:49382]
synonym: "achromatopsia" EXACT CLINGEN_LABEL []
synonym: "complete or incomplete color blindness" EXACT [Orphanet:49382]
synonym: "complete or incomplete colour blindness" EXACT OMO:0003005 []
synonym: "monochromatism" EXACT [DOID:13911]
synonym: "Pingelapese blindness" EXACT [Orphanet:49382]
synonym: "Rod monochromacy" EXACT [Orphanet:49382]
synonym: "Rod monochromatism" EXACT [Orphanet:49382]
synonym: "total color blindness" EXACT [Orphanet:49382]
synonym: "total colour blindness" EXACT OMO:0003005 []
xref: DOID:13911 {source="MONDO:equivalentTo"}
xref: GARD:15015 {source="MONDO:GARD"}
xref: ICD10CM:H53.5 {source="Orphanet:49382/inclusion", source="Orphanet:49382/ntbt", source="Orphanet:49382"}
xref: ICD10CM:H53.51 {source="DOID:13911", source="MONDO:equivalentTo"}
xref: ICD9:368.54 {source="DOID:13911"}
xref: MedDRA:10000454 {source="Orphanet:49382", source="Orphanet:49382/e"}
xref: MEDGEN:57751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003117 {source="DOID:13911"}
xref: NCIT:C84528 {source="DOID:13911", source="MONDO:equivalentTo"}
xref: Orphanet:49382 {source="DOID:13911", source="MONDO:equivalentTo"}
xref: SCTID:102450007 {source="MONDO:equivalentTo"}
xref: SCTID:56852002 {source="DOID:13911"}
xref: UMLS:C0152200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57751"}
is_a: MONDO:0001703 {source="DOID:13911", source="Orphanet:49382"} ! color vision disorder
is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder
relationship: disease_has_feature HP:0000646 {source="MONDO:Wikidata"} ! Amblyopia
relationship: disease_has_feature MONDO:0001020 {source="MONDO:Wikidata"} ! amblyopia

[Term]
id: MONDO:0018853
name: transgrediens et progrediens palmoplantar keratoderma
subset: gard_rare {source="GARD:3096", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:495"}
subset: orphanet_rare {source="Orphanet:495"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Greither disease" EXACT [Orphanet:495]
synonym: "keratosis extremitatum hereditaria progrediens" EXACT [Orphanet:495]
synonym: "keratosis palmoplantaris transgrediens et progrediens" EXACT [Orphanet:495]
synonym: "progressive diffuse palmoplantar keratoderma" EXACT [Orphanet:495]
synonym: "progressive diffuse PPK" EXACT [Orphanet:495]
synonym: "transgrediens et progrediens PPK" EXACT [Orphanet:495]
xref: GARD:3096 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:495/attributed", source="Orphanet:495/ntbt", source="Orphanet:495"}
xref: MEDGEN:338702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:495 {source="MONDO:equivalentTo"}
xref: UMLS:C1851480 {source="MONDO:equivalentTo", source="MEDGEN:338702", source="MONDO:MEDGEN"}
is_a: MONDO:0017851 ! erythrokeratodermia variabilis

[Term]
id: MONDO:0018854
name: acquired purpura fulminans
def: "A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF." [Orphanet:49566]
subset: gard_rare {source="GARD:18838", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:49566"}
subset: orphanet_rare {source="Orphanet:49566"}
subset: rare
synonym: "acquired PF" EXACT [Orphanet:49566]
synonym: "acquired purpura fulminans" EXACT [MONDO:patterns/acquired]
xref: GARD:18838 {source="MONDO:GARD"}
xref: ICD10CM:D65 {source="Orphanet:49566/ntbt", source="Orphanet:49566"}
xref: MedDRA:10037556 {source="Orphanet:49566/e", source="Orphanet:49566"}
xref: MEDGEN:1377273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014884 {source="MONDO:relatedTo", source="Orphanet:49566/e", source="Orphanet:49566"}
xref: MESH:D055665 {source="MONDO:relatedTo", source="Orphanet:49566/e", source="Orphanet:49566"}
xref: Orphanet:49566 {source="MONDO:equivalentTo"}
xref: SCTID:725157006 {source="MONDO:equivalentTo"}
xref: UMLS:C4510896 {source="MEDGEN:1377273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000831 {source="Orphanet:49566"} ! thrombotic disease
intersection_of: MONDO:0000809 ! purpura fulminans
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0018855
name: keratosis pilaris atrophicans
def: "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." [https://www.dermnetnz.org/topics/keratosis-pilaris/]
subset: disease_grouping
subset: gard_rare {source="GARD:18694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:498"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" RELATED [MESH:C537412]
synonym: "Atrophodermia reticulata" RELATED [MESH:C537412]
synonym: "Atrophodermia reticulata symmetrica faciei" RELATED [MESH:C537412]
synonym: "Atrophodermia vermiculata" RELATED [MESH:C537412]
synonym: "burnett Schwartz Berberian syndrome" RELATED [MESH:C537412]
synonym: "folliculitis ulerythematosa" RELATED [MESH:C537412]
synonym: "folliculitis ulerythematosa reticulata" RELATED [MESH:C537412]
synonym: "honeycomb atrophy" RELATED [MESH:C537412]
synonym: "keratosis pilaris" RELATED [GARD:0001042, MESH:C537412, OMIM:604093]
synonym: "keratosis pilaris atrophicans" EXACT [OMIM:604093]
synonym: "keratosis pilaris atrophicans facies" RELATED [GARD:0001042, MESH:C537412]
synonym: "KPA" RELATED ABBREVIATION [OMIM:604093]
synonym: "ulerythema ophryogenes" RELATED [GARD:0001042, MESH:C537412]
synonym: "ulerythema ophryogenes with multiple congenital anomalies" RELATED [GARD:0001042, MESH:C537412]
synonym: "ulerythema ophryogenesis" RELATED [MESH:C537412]
xref: DOID:0080751 {source="MONDO:equivalentTo"}
xref: GARD:18694 {source="MONDO:GARD"}
xref: ICD10CM:L85.8 {source="Orphanet:498/attributed", source="Orphanet:498/ntbt", source="Orphanet:498"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537412 {source="MONDO:equivalentTo"}
xref: OMIM:604093 {source="MONDO:equivalentTo", source="GARD:0001042"}
xref: Orphanet:498 {source="MONDO:equivalentTo"}
xref: SCTID:400059005 {source="MONDO:equivalentTo"}
xref: UMLS:C0263428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75520"}
is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
is_a: MONDO:0021036 {source="https://orcid.org/0000-0002-6601-2165"} ! keratosis pilaris
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6692 {source="MONDO:mim2gene_medgen"} ! LRP1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome" xsd:anyURI {source="GARD:0001042"}

[Term]
id: MONDO:0018856
name: lichen amyloidosis
def: "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis." [Orphanet:49804]
subset: gard_rare {source="GARD:18839", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:49804"}
subset: orphanet_rare {source="Orphanet:49804"}
subset: rare
synonym: "amyloid lichen" EXACT [Orphanet:49804]
synonym: "lichen amyloidosus" EXACT [Orphanet:49804]
xref: GARD:18839 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:49804", source="Orphanet:49804/ntbt"}
xref: ICD10EXP:L99.0* {source="Orphanet:49804", source="Orphanet:49804/ntbt"}
xref: MEDGEN:1830282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:49804 {source="MONDO:equivalentTo"}
xref: SCTID:718105008 {source="MONDO:equivalentTo"}
xref: UMLS:C5779561 {source="MEDGEN:1830282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015301 {source="Orphanet:49804"} ! primary cutaneous amyloidosis

[Term]
id: MONDO:0018857
name: creeping myiasis
subset: gard_rare {source="GARD:1609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:504"}
subset: orphanet_rare {source="Orphanet:504"}
subset: rare
synonym: "migratory myiasis" EXACT [Orphanet:504]
xref: GARD:1609 {source="MONDO:GARD"}
xref: ICD10CM:B87.0 {source="Orphanet:504/ntbt", source="Orphanet:504"}
xref: MedDRA:10059547 {source="Orphanet:504", source="Orphanet:504/e"}
xref: MEDGEN:287068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007815 {source="MONDO:relatedTo", source="Orphanet:504", source="Orphanet:504/e"}
xref: Orphanet:504 {source="MONDO:equivalentTo"}
xref: SCTID:417441005 {source="MONDO:equivalentTo"}
xref: UMLS:C1562462 {source="MONDO:equivalentTo", source="MEDGEN:287068", source="MONDO:MEDGEN"}
is_a: MONDO:0020568 {source="Orphanet:504"} ! cutaneous myiasis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis" xsd:anyURI {source="GARD:0001609"}

[Term]
id: MONDO:0018858
name: Graham Little-Piccardi-Lassueur syndrome
def: "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." [Orphanet:505]
subset: gard_rare {source="GARD:3195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:505"}
subset: orphanet_rare {source="Orphanet:505"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Graham Little syndrome" EXACT [Orphanet:505]
synonym: "Graham-Little-Piccardi-Lassueur syndrome" RELATED [GARD:0003195]
synonym: "Piccardi-Lassueur-Little syndrome" EXACT [Orphanet:505]
xref: GARD:3195 {source="MONDO:GARD"}
xref: ICD10CM:L66.1 {source="Orphanet:505", source="MONDO:directSiblingOf", source="Orphanet:505/attributed", source="Orphanet:505/ntbt"}
xref: MEDGEN:905915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:505 {source="MONDO:equivalentTo"}
xref: SCTID:718215008 {source="MONDO:equivalentTo"}
xref: UMLS:C4273658 {source="MEDGEN:905915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="Orphanet:505"} ! alopecia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome" xsd:anyURI {source="GARD:0003195"}

[Term]
id: MONDO:0018859
name: obsolete Leigh disease
is_obsolete: true
replaced_by: MONDO:0009723

[Term]
id: MONDO:0018860
name: microlissencephaly-micromelia syndrome
def: "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." [Orphanet:50810]
subset: gard_rare {source="GARD:18840", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50810"}
subset: ordo_malformation_syndrome {source="Orphanet:50810"}
subset: orphanet_rare {source="Orphanet:50810"}
subset: rare
synonym: "Basel-Vanagaite-Sirota syndrome" EXACT [Orphanet:50810]
xref: GARD:18840 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:50810", source="Orphanet:50810/attributed", source="Orphanet:50810/ntbt"}
xref: MEDGEN:1377242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:50810 {source="MONDO:equivalentTo"}
xref: UMLS:C4509878 {source="MEDGEN:1377242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:50810", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0018861
name: Zellweger-like syndrome without peroxisomal anomalies
def: "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." [Orphanet:50812]
subset: gard_rare {source="GARD:18841", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50812"}
subset: orphanet_rare {source="Orphanet:50812"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AHN-Lerman-Sagie syndrome" EXACT [Orphanet:50812]
xref: GARD:18841 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:50812/attributed", source="Orphanet:50812/ntbt", source="Orphanet:50812"}
xref: MEDGEN:930773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:50812 {source="MONDO:equivalentTo"}
xref: SCTID:718880003 {source="MONDO:equivalentTo"}
xref: UMLS:C4305104 {source="MEDGEN:930773", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016387 {source="Orphanet:50812", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder
relationship: disease_shares_features_of MONDO:0019609 ! Zellweger spectrum disorders

[Term]
id: MONDO:0018862
name: obsolete cat-scratch disease
is_obsolete: true
replaced_by: MONDO:0005692

[Term]
id: MONDO:0018863
name: obsolete leptospirosis
is_obsolete: true
replaced_by: MONDO:0005825

[Term]
id: MONDO:0018864
name: Kikuchi-Fujimoto disease
def: "Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat." [Orphanet:50918]
subset: gard_rare {source="GARD:6834", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50918"}
subset: orphanet_rare {source="Orphanet:50918"}
subset: rare
synonym: "histiocytic necrotising lymphadenitis" RELATED [GARD:0006834]
synonym: "histiocytic necrotizing lymphadenitis" EXACT [Orphanet:50918]
synonym: "Kikuchi disease" EXACT [Orphanet:50918]
synonym: "Kikuchi necrotizing lymphadenitis" RELATED [GARD:0006834]
synonym: "Kikuchi's disease" RELATED [GARD:0006834]
synonym: "Kikuchi-Fujimoto's disease" RELATED [GARD:0006834]
synonym: "nosocomial Kikuchi's disease" RELATED [GARD:0006834]
xref: GARD:6834 {source="MONDO:GARD"}
xref: ICD10CM:I88.1 {source="Orphanet:50918", source="Orphanet:50918/ntbt"}
xref: MEDGEN:97979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020042 {source="MONDO:equivalentTo"}
xref: NCIT:C71719 {source="MONDO:equivalentTo"}
xref: Orphanet:50918 {source="MONDO:equivalentTo"}
xref: SCTID:127217009 {source="MONDO:equivalentTo"}
xref: UMLS:C0398367 {source="MONDO:equivalentTo", source="MEDGEN:97979", source="MONDO:MEDGEN"}
is_a: MONDO:0002052 {source="MESH:D020042", source="NCIT:C71719"} ! lymphadenitis

[Term]
id: MONDO:0018865
name: striate palmoplantar keratoderma
def: "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed." [Orphanet:50942]
subset: gard_rare {source="GARD:15016", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:50942"}
subset: orphanet_rare {source="Orphanet:50942"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "keratosis palmoplantaris striata" EXACT [Orphanet:50942]
synonym: "keratosis palmoplantaris striata et areata" EXACT [Orphanet:50942]
synonym: "keratosis palmoplantaris varians of Wachters" EXACT [Orphanet:50942]
xref: DOID:0081105 {source="MONDO:equivalentTo"}
xref: GARD:15016 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:50942", source="Orphanet:50942/attributed", source="Orphanet:50942/ntbt"}
xref: MEDGEN:1631598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:50942 {source="MONDO:equivalentTo"}
xref: SCTID:764958008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631598"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017672 {source="https://orcid.org/0000-0001-5208-3432"} ! focal palmoplantar keratoderma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018866
name: Aicardi-Goutieres syndrome
def: "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." [Orphanet:51]
subset: gard_rare {source="GARD:575", source="MONDO:GARD"}
subset: nord_rare {source="NORD:111728", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:51"}
subset: orphanet_rare {source="Orphanet:51"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGS" RELATED ABBREVIATION [GARD:0000575]
synonym: "Aicardi Goutieres syndrome" EXACT [GARD:0000575]
synonym: "Aicardi-Goutières Syndrome" EXACT [NORD:111728]
synonym: "Aicardi-Goutières syndrome" RELATED [Orphanet:51]
synonym: "Cree encephalitis" EXACT [DOID:0050629, GARD:0000575]
synonym: "encephalopathy with basal ganglia calcification" EXACT [Orphanet:51]
synonym: "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid" EXACT [GARD:0000575, Orphanet:51]
synonym: "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis" RELATED [GARD:0000575]
synonym: "pseudotoxoplasmosis syndrome" RELATED [GARD:0000575]
xref: DOID:0050629 {source="MONDO:equivalentTo"}
xref: GARD:575 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:51/attributed", source="Orphanet:51/ntbt", source="DOID:0050629", source="Orphanet:51"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:97953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535607 {source="Orphanet:51/e", source="MONDO:equivalentTo", source="Orphanet:51"}
xref: NANDO:1200996 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100244 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200893 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:111728 {source="MONDO:NORD"}
xref: OMIMPS:225750 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:51 {source="GARD:0000575", source="MONDO:equivalentTo", source="DOID:0050629"}
xref: SCTID:230312006 {source="MONDO:equivalentTo"}
xref: UMLS:C0393591 {source="MEDGEN:97953", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
is_a: MONDO:0006025 {source="DOID:0050629", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0019046 {source="Orphanet:51", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0957408 {source="Orphanet:51", source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:51", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:51", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Moyamoya syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:51"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:225750"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0018867
name: obsolete maple syrup urine disease
is_obsolete: true
replaced_by: MONDO:0009563

[Term]
id: MONDO:0018868
name: metachromatic leukodystrophy
def: "A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." [Orphanet:512]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1369"}
subset: ordo_disorder {source="Orphanet:512"}
subset: orphanet_rare {source="Orphanet:512"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arylsulfatase A deficiency" EXACT [DOID:10581, Orphanet:512]
synonym: "deficiency of cerebroside-sulfatase" EXACT [DOID:10581]
synonym: "MLD" EXACT ABBREVIATION [DOID:10581, Orphanet:512]
synonym: "Scholz cerebral sclerosis" EXACT [DOID:10581]
synonym: "sulfatide lipoidosis" EXACT [DOID:10581]
xref: DOID:10581 {source="MONDO:equivalentTo"}
xref: GARD:3230 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:512/ntbt", source="Orphanet:512", source="Orphanet:512/inclusion"}
xref: ICD10CM:E75.25 {source="DOID:10581"}
xref: ICD10CM:E75.29 {source="DOID:10581"}
xref: icd11.foundation:172326564 {source="Orphanet:512", source="MONDO:equivalentTo"}
xref: MedDRA:10067609 {source="Orphanet:512", source="Orphanet:512/e"}
xref: MEDGEN:6071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538597 {source="Orphanet:512", source="Orphanet:512/e"}
xref: MESH:D007966 {source="Orphanet:512", source="MONDO:equivalentTo", source="Orphanet:512/e", source="DOID:10581"}
xref: NANDO:1200078 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200560 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61251 {source="MONDO:equivalentTo", source="DOID:10581"}
xref: NORD:1369 {source="MONDO:NORD"}
xref: Orphanet:512 {source="MONDO:equivalentTo", source="DOID:10581"}
xref: SCTID:192784006 {source="DOID:10581"}
xref: SCTID:3621006 {source="DOID:10581"}
xref: SCTID:396338004 {source="DOID:10581"}
xref: SCTID:44359008 {source="DOID:10581"}
xref: SCTID:66521008 {source="MONDO:equivalentTo"}
xref: UMLS:C0023522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6071"}
is_a: MONDO:0002561 {source="DOID:10581/inferred", source="MESH:D007966/inferred", source="MONDO:Redundant", source="NCIT:C61251", source="Orphanet:512/inferred"} ! lysosomal storage disease
is_a: MONDO:0015547 ! hereditary dementia
is_a: MONDO:0019046 {source="NCIT:C61251", source="Orphanet:512", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0019255 {source="DOID:10581", source="MESH:D007966/inferred", source="MONDO:0018299-obsoleted", source="NCIT:C61251", source="Orphanet:512"} ! sphingolipidosis
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy

[Term]
id: MONDO:0018869
name: cobblestone lissencephaly
def: "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." [Orphanet:51577]
subset: disease_grouping
subset: gard_rare {source="GARD:3277", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:51577"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lissencephaly type 2" EXACT [Orphanet:51577]
xref: GARD:3277 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:51577/ntbt", source="Orphanet:51577/inclusion", source="Orphanet:51577"}
xref: MEDGEN:96562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054222 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:1201072 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:51577 {source="MONDO:equivalentTo"}
xref: SCTID:253149002 {source="MONDO:equivalentTo"}
xref: UMLS:C0431376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96562"}
is_a: MONDO:0018838 {source="Orphanet:51577"} ! lissencephaly spectrum disorders

[Term]
id: MONDO:0018870
name: arterial calcification of infancy
def: "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." [Orphanet:51608]
subset: gard_rare {source="GARD:8380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2001"}
subset: ordo_disorder {source="Orphanet:51608"}
subset: orphanet_rare {source="Orphanet:51608"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "generalised arterial calcification in infancy" RELATED OMO:0003005 []
synonym: "generalised arterial calcification of infancy" EXACT OMO:0003005 []
synonym: "generalized arterial calcification in infancy" RELATED [GARD:0008380]
synonym: "Generalized Arterial Calcification of Infancy" EXACT [NORD:2001]
synonym: "generalized arterial calcification of infancy" EXACT [DOID:0050644]
synonym: "idiopathic infantile arterial calcification" EXACT [DOID:0050644, Orphanet:51608]
synonym: "idiopathic obliterative arteriopathy" EXACT [Orphanet:51608]
synonym: "IIAC" RELATED ABBREVIATION [GARD:0008380]
synonym: "infantile arteriosclerosis" EXACT [DOID:0050644, Orphanet:51608]
synonym: "occlusive infantile arteriopathy" EXACT [Orphanet:51608]
xref: DOID:0050644 {source="MONDO:equivalentTo"}
xref: GARD:8380 {source="MONDO:GARD"}
xref: ICD10CM:Q28.8 {source="Orphanet:51608/index", source="Orphanet:51608/ntbt", source="Orphanet:51608"}
xref: MEDGEN:395331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537440 {source="Orphanet:51608/e", source="MONDO:equivalentTo", source="Orphanet:51608"}
xref: NORD:2001 {source="MONDO:NORD"}
xref: OMIMPS:208000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:51608 {source="MONDO:equivalentTo", source="DOID:0050644"}
xref: UMLS:C1859727 {source="MEDGEN:395331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="Orphanet:51608"} ! vascular disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:208000"} ! inherited

[Term]
id: MONDO:0018871
name: acute myelomonocytic leukemia M4
def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" [NCIT:C7463]
subset: gard_rare {source="GARD:529", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:517"}
subset: orphanet_rare {source="Orphanet:517"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute M4 myeloid leukaemia" EXACT OMO:0003005 []
synonym: "acute M4 myeloid leukemia" EXACT [NCIT:C7463]
synonym: "acute myeloblastic leukaemia type 4" RELATED OMO:0003005 []
synonym: "acute myeloblastic leukemia type 4" RELATED [GARD:0000529]
synonym: "acute myelomonocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute myelomonocytic leukaemia (FAB type M4)" EXACT OMO:0003005 []
synonym: "acute myelomonocytic leukemia" EXACT [NCIT:C7463]
synonym: "acute myelomonocytic leukemia (FAB type M4)" EXACT [NCIT:C7463]
synonym: "AML M4" EXACT [GARD:0000529, Orphanet:517]
synonym: "AML-M4" RELATED [GARD:0000529]
synonym: "AMML" EXACT ABBREVIATION [NCIT:C7463]
synonym: "AMMoL" EXACT [GARD:0000529, Orphanet:517]
xref: DOID:0081082 {source="MONDO:equivalentTo"}
xref: EFO:0000223 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:529 {source="MONDO:GARD"}
xref: ICD10CM:C92.5 {source="Orphanet:517", source="Orphanet:517/e"}
xref: icd11.foundation:1613358778 {source="MONDO:equivalentTo", source="Orphanet:517", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9867/3 {source="NCIT:C7463"}
xref: MedDRA:10000890 {source="Orphanet:517", source="Orphanet:517/e"}
xref: MEDGEN:9732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015479 {source="Orphanet:517", source="Orphanet:517/e"}
xref: NCIT:C7463 {source="MONDO:equivalentTo", source="EFO:0000223"}
xref: ONCOTREE:AMML {source="MONDO:equivalentTo"}
xref: Orphanet:517 {source="MONDO:equivalentTo", source="GARD:0000529"}
xref: SCTID:110005000 {source="MONDO:equivalentTo"}
xref: SCTID:30962008 {source="EFO:0000223"}
xref: UMLS:C0023479 {source="MEDGEN:9732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015667 {source="NCIT:C7463"} ! acute myeloid leukemia by FAB classification
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0000223", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia" xsd:anyURI {source="GARD:0000529"}

[Term]
id: MONDO:0018872
name: acute megakaryoblastic leukemia
def: "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis." [Orphanet:518]
subset: gard_rare {source="GARD:524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:518"}
subset: orphanet_rare {source="Orphanet:518"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute M7 myeloid leukaemia" EXACT OMO:0003005 []
synonym: "acute M7 myeloid leukemia" EXACT [NCIT:C3170]
synonym: "acute megakaryoblastic leukaemia (FAB type M7)" EXACT OMO:0003005 []
synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0004655, MONDO:0005222, NCIT:C3170]
synonym: "acute megakaryoblastic leukemia (FAB type M7)" EXACT [DOID:8761, NCIT:C3170]
synonym: "acute megakaryoblastic leukemia, FAB M7" EXACT [DOID:8761]
synonym: "acute megakaryocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute megakaryocytic leukemia" EXACT [NCIT:C3170, Orphanet:518]
synonym: "acute megakaryocytic leukemias" EXACT [DOID:8761, MTH:NOCODE]
synonym: "acute myeloblastic leukaemia type 7" RELATED OMO:0003005 []
synonym: "acute myeloblastic leukemia type 7" RELATED [GARD:0000524]
synonym: "acute myeloid leukaemia M7" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia M7" EXACT [Orphanet:518]
synonym: "AMKL" EXACT ABBREVIATION [NCIT:C3170, Orphanet:518]
synonym: "AML M7" EXACT [Orphanet:518]
synonym: "FAB M7" EXACT [NCIT:C3170]
synonym: "leukemia, megakaryocytic, malignant" EXACT [NCIT:C3170]
synonym: "megakaryocytic leukaemia" RELATED OMO:0003005 []
synonym: "megakaryocytic leukemia" RELATED [DOID:8761]
synonym: "megakaryocytic myelosis" EXACT [DOID:8761]
synonym: "thrombocytic leukaemia" EXACT OMO:0003005 []
synonym: "thrombocytic leukemia" EXACT [DOID:8761]
xref: DOID:8761 {source="MONDO:equivalentTo"}
xref: EFO:0003025 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:524 {source="MONDO:GARD"}
xref: ICD10CM:C94.2 {source="Orphanet:518", source="DOID:8761", source="Orphanet:518/ntbt"}
xref: ICD10CM:C94.20 {source="DOID:8761"}
xref: icd11.foundation:2057381869 {source="MONDO:equivalentTo", source="Orphanet:518", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:207.2 {source="DOID:8761"}
xref: ICDO:9910/3 {source="NCIT:C3170"}
xref: MedDRA:10060556 {source="EFO:0003025", source="https://orcid.org/0000-0002-1357-5159"}
xref: MEDGEN:44124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007947 {source="MONDO:equivalentTo", source="DOID:8761"}
xref: NANDO:2200011 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3170 {source="EFO:0003025", source="MONDO:equivalentTo", source="DOID:8761"}
xref: ONCOTREE:AMKL {source="MONDO:equivalentTo"}
xref: Orphanet:518 {source="MONDO:equivalentTo"}
xref: SCTID:188754005 {source="DOID:8761"}
xref: SCTID:190065009 {source="DOID:8761"}
xref: SCTID:190067001 {source="DOID:8761"}
xref: SCTID:277602003 {source="EFO:0003025", source="MONDO:equivalentTo", source="DOID:8761"}
xref: SCTID:52220008 {source="EFO:0003025", source="DOID:8761"}
xref: SCTID:94149003 {source="DOID:8761"}
xref: UMLS:C0023462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44124"}
xref: Wikipedia:Acute_megakaryoblastic_leukemia {source="EFO:0003025"}
is_a: MONDO:0015667 {source="Orphanet:518"} ! acute myeloid leukemia by FAB classification
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003025", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6490" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia" xsd:anyURI {source="GARD:0000524"}

[Term]
id: MONDO:0018873
name: anterior cutaneous nerve entrapment syndrome
def: "Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome." [Orphanet:51890]
subset: gard_rare {source="GARD:18843", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:51890"}
subset: orphanet_rare {source="Orphanet:51890"}
subset: rare
synonym: "ACNES" EXACT ABBREVIATION [Orphanet:51890]
synonym: "intercostal nerve syndrome" EXACT [Orphanet:51890]
synonym: "rectus abdominis syndrome" EXACT [Orphanet:51890]
xref: GARD:18843 {source="MONDO:GARD"}
xref: ICD10CM:G58.0 {source="Orphanet:51890"}
xref: MEDGEN:581659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:51890 {source="MONDO:equivalentTo"}
xref: UMLS:C0393899 {source="MEDGEN:581659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015923 {source="Orphanet:51890"} ! acquired peripheral neuropathy

[Term]
id: MONDO:0018874
name: acute myeloid leukemia
def: "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." [Orphanet:519]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12757", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1905", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:519"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute granulocytic leukemia" EXACT [NCIT:C3171]
synonym: "acute myeloblastic leukaemia" EXACT OMO:0003005 []
synonym: "acute myeloblastic leukemia" EXACT [DOID:9119, NCIT:C3171]
synonym: "acute myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute myelocytic leukemia" EXACT [NCIT:C3171]
synonym: "acute myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "acute myelogenous leukemia" EXACT [DOID:9119, NCIT:C3171, Orphanet:519]
synonym: "acute myelogenous leukemias" EXACT [NCIT:C3171]
synonym: "acute myeloid leukaemia (AML)" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia" EXACT CLINGEN_LABEL [NCIT:C3171]
synonym: "acute myeloid leukemia (AML)" EXACT [NCIT:C3171]
synonym: "acute myeloid leukemia, somatic" EXACT [OMIM:601626, OMIM:genemap2]
synonym: "acute non lymphoblastic leukaemia" RELATED OMO:0003005 []
synonym: "acute non lymphoblastic leukemia" RELATED [GARD:0000537]
synonym: "acute Nonlymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute nonlymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "acute Nonlymphocytic leukemia" EXACT [NCIT:C3171]
synonym: "acute nonlymphocytic leukemia" EXACT [NCIT:C3171]
synonym: "AML" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3171, OMIM:601626, Orphanet:519]
synonym: "AML - acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "AML - acute myeloid leukemia" EXACT [DOID:9119, NCIT:C3171]
synonym: "ANLL" EXACT ABBREVIATION [NCIT:C3171]
synonym: "hematopoeitic - acute Myleogenous leukaemia (AML)" EXACT OMO:0003005 []
synonym: "hematopoeitic - acute Myleogenous leukemia (AML)" EXACT [NCIT:C3171]
synonym: "leukemia, acute myelogenous" RELATED [OMIM:601626]
synonym: "leukemia, acute myeloid" RELATED [MONDO:Lexical, OMIM:601626]
synonym: "leukemia, acute myeloid, autosomal dominant, somatic mutation" EXACT [OMIM:601626, OMIM:genemap2]
synonym: "leukemia, acute myeloid, reduced survival in, somatic" EXACT [OMIM:601626, OMIM:genemap2]
synonym: "leukemia, acute myeloid, somatic" EXACT [OMIM:601626, OMIM:genemap2]
synonym: "leukemia, acute myeloid, susceptibility to" RELATED [OMIM:601626]
synonym: "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:601626, OMIM:genemap2]
synonym: "leukemia, myelocytic, acute" EXACT [DOID:9119, MTH:NOCODE]
synonym: "myeloid leukemia, acute" EXACT [MONDO:patterns/acute]
synonym: "myeloid leukemia, acute, M4/M4Eo subtype, somatic" EXACT [OMIM:601626, OMIM:genemap2]
xref: DOID:9119 {source="EFO:0000222", source="MONDO:equivalentTo"}
xref: EFO:0000222 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12757 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="DOID:9119", source="Orphanet:519", source="Orphanet:519/e"}
xref: ICD10CM:C92.00 {source="DOID:9119"}
xref: ICD9:205.0 {source="DOID:9119", source="EFO:0000222"}
xref: ICD9:205.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9861/3 {source="NCIT:C3171"}
xref: MedDRA:10000880 {source="Orphanet:519", source="Orphanet:519/e"}
xref: MEDGEN:9730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015470 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="Orphanet:519", source="Orphanet:519/e"}
xref: NCIT:C27753 {source="DOID:9119"}
xref: NCIT:C3171 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo"}
xref: NORD:1905 {source="MONDO:NORD"}
xref: OMIM:601626 {source="DOID:9119", source="EFO:0000222", source="MONDO:equivalentTo", source="Orphanet:519", source="Orphanet:519/e"}
xref: ONCOTREE:AML {source="MONDO:equivalentTo"}
xref: Orphanet:519 {source="MONDO:equivalentTo"}
xref: SCTID:154591002 {source="DOID:9119"}
xref: SCTID:17788007 {source="DOID:9119", source="EFO:0000222"}
xref: SCTID:277600006 {source="DOID:9119"}
xref: SCTID:413443009 {source="DOID:9119", source="EFO:0000222"}
xref: SCTID:91861009 {source="DOID:9119", source="MONDO:equivalentTo"}
xref: UMLS:C0023467 {source="MEDGEN:9730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004643 {source="DOID:9119", source="MESH:D015470", source="MONDO:Redundant", source="NCIT:C3171"} ! myeloid leukemia
is_a: MONDO:0005170 {source="EFO:0000222", source="MONDO:Redundant", source="NCIT:C3171/inferred", source="ONCOTREE:AML/inferred"} ! myeloid neoplasm
is_a: MONDO:0015756 {source="MONDO:Redundant", source="Orphanet:519"} ! myeloid hemopathy
intersection_of: MONDO:0004643 ! myeloid leukemia
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: disease_has_feature HP:0001903 {source="MONDO:Wikidata"} ! Anemia
relationship: disease_has_feature MONDO:0002280 {source="MONDO:Wikidata"} ! anemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia" xsd:anyURI {source="GARD:0012757"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia" xsd:anyURI {source="GARD:0000537"}

[Term]
id: MONDO:0018875
name: Li-Fraumeni syndrome
def: "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." [Orphanet:524]
subset: gard_rare {source="GARD:6902", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1913", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:524"}
subset: orphanet_rare {source="Orphanet:524"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LFS" EXACT ABBREVIATION [OMIM:151623]
synonym: "LFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151623]
synonym: "LFS3" RELATED ABBREVIATION [MONDO:0012234, MONDO:Lexical, OMIM:609266]
synonym: "Li Fraumeni syndrome" EXACT [GARD:0006902]
synonym: "Li-Fraumeni familial cancer susceptibility syndrome" EXACT [NCIT:C3476]
synonym: "Li-Fraumeni familiar cancer susceptibility syndrome" EXACT [DOID:3012, NCIT:C3476]
synonym: "Li-Fraumeni syndrome" EXACT CLINGEN_LABEL [NCIT:C3476, OMIM:151623]
synonym: "Li-Fraumeni syndrome caused by mutation in TP53" EXACT [MONDO:design_pattern]
synonym: "Li-Fraumeni-like syndrome" RELATED [OMIM:151623]
synonym: "sarcoma family syndrome of 51 and Fraumeni" RELATED [OMIM:151623]
synonym: "sarcoma family syndrome of Li and Fraumeni" RELATED [GARD:0006902]
synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT OMO:0003005 []
synonym: "sarcoma, breast, leukemia and adrenal gland syndrome" EXACT [DOID:3012]
synonym: "SBLA syndrome" EXACT [DOID:3012, OMIM:151623]
synonym: "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)" RELATED [GARD:0006902]
synonym: "TP53 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111503 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:3012 {source="MONDO:equivalentTo"}
xref: GARD:6902 {source="MONDO:GARD"}
xref: ICD10CM:D48.9 {source="Orphanet:524", source="Orphanet:524/attributed", source="Orphanet:524/ntbt"}
xref: ICD9:V84.01 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10066795 {source="Orphanet:524", source="Orphanet:524/e"}
xref: MEDGEN:88399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563754
xref: MESH:D016864 {source="DOID:3012", source="Orphanet:524", source="MONDO:equivalentTo", source="Orphanet:524/e"}
xref: NCIT:C3476 {source="DOID:3012", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1913 {source="MONDO:NORD"}
xref: OMIM:151623 {source="MONDO:equivalentTo"}
xref: OMIM:609266 {source="MONDO:equivalentObsolete"}
xref: OMIMPS:151623 {source="MONDO:relatedTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:524 {source="DOID:3012", source="OMIM:151623", source="MONDO:equivalentTo", source="OMIM:609266"}
xref: SCTID:428850001 {source="DOID:3012", source="MONDO:equivalentTo"}
xref: UMLS:C0085390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88399"}
is_a: MONDO:0000426 {source="DOID:3012", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015356 {source="MESH:D016864", source="NCIT:C3476", source="Orphanet:524"} ! hereditary neoplastic syndrome
relationship: has_characteristic HP:0000006 {source="OMIM:151623", source="Orphanet:524"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:151623"} ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11998 {source="MONDO:mim2gene_medgen"} ! TP53
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6260" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0018876
name: mantle cell lymphoma
def: "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." [Orphanet:52416]
subset: gard_rare {source="GARD:6969", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1399"}
subset: ordo_disorder {source="Orphanet:52416"}
subset: orphanet_rare {source="Orphanet:52416"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classical mantle cell lymphoma" EXACT [NCIT:C4337]
synonym: "LCM" EXACT ABBREVIATION [Orphanet:52416]
synonym: "lymphoma, mantle cell" RELATED [GARD:0006969]
synonym: "mantle cell lymphoma" EXACT [NCIT:C4337]
synonym: "mantle zone lymphoma" EXACT [NCIT:C4337, Orphanet:52416]
synonym: "MCL" EXACT ABBREVIATION [NCIT:C4337, Orphanet:52416]
xref: DOID:0050746 {source="MONDO:equivalentTo"}
xref: EFO:1001469 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6969 {source="MONDO:GARD"}
xref: ICD10CM:C83.1 {source="Orphanet:52416", source="Orphanet:52416/e"}
xref: icd11.foundation:1804127841 {source="MONDO:equivalentTo", source="Orphanet:52416"}
xref: ICD9:200.40 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9673/3 {source="NCIT:C4337"}
xref: MedDRA:10061275 {source="Orphanet:52416", source="Orphanet:52416/e"}
xref: MEDGEN:1668377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020522 {source="MONDO:equivalentTo", source="DOID:0050746", source="Orphanet:52416", source="Orphanet:52416/e"}
xref: NCIT:C4337 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1399 {source="MONDO:NORD"}
xref: ONCOTREE:MCL {source="MONDO:equivalentTo"}
xref: Orphanet:52416 {source="MONDO:equivalentTo"}
xref: SCTID:443487006 {source="MONDO:equivalentTo"}
xref: UMLS:C4721414 {source="MEDGEN:1668377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017595 {source="Orphanet:52416"} ! aggressive B-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0018877
name: retinitis punctata albescens
subset: gard_rare {source="GARD:16655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52427"}
subset: orphanet_rare {source="Orphanet:52427"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16655 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:52427", source="Orphanet:52427/index", source="Orphanet:52427/ntbt"}
xref: MEDGEN:278050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:52427 {source="MONDO:equivalentTo"}
xref: SCTID:715562001 {source="MONDO:equivalentTo"}
xref: UMLS:C1405854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:278050"}
is_a: MONDO:0007639 ! fundus albipunctatus
is_a: MONDO:0100443 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH5-related retinopathy
is_a: MONDO:0100444 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1-related retinopathy

[Term]
id: MONDO:0018878
name: branchiootic syndrome
def: "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." [Orphanet:52429]
subset: gard_rare {source="GARD:10148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52429"}
subset: ordo_malformation_syndrome {source="Orphanet:52429"}
subset: orphanet_rare {source="Orphanet:52429"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bo syndrome" EXACT [DOID:0060232]
synonym: "bor" EXACT [DOID:0060232]
synonym: "branchiootic dysplasia" EXACT [DOID:0060232]
xref: DOID:0060232 {source="MONDO:equivalentTo"}
xref: GARD:10148 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="DOID:0060232", source="Orphanet:52429/attributed", source="Orphanet:52429/ntbt", source="Orphanet:52429"}
xref: MEDGEN:1636666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537104 {source="MONDO:equivalentTo"}
xref: NANDO:1200675 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:602588 {source="MONDO:equivalentTo"}
xref: Orphanet:52429 {source="DOID:0060232", source="MONDO:equivalentTo"}
xref: SCTID:764810000 {source="MONDO:equivalentTo"}
xref: UMLS:C4273131 {source="MEDGEN:1636666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060232", source="MONDO:Redundant", source="MONDO:indirect"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:52429"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:52429", source="Orphanet:52429/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:602588"} ! inherited

[Term]
id: MONDO:0018879
name: lichen planopilaris
def: "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus." [Orphanet:525]
subset: gard_rare {source="GARD:3247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:525"}
subset: orphanet_rare {source="Orphanet:525"}
subset: rare
synonym: "follicular lichen planus" EXACT [Orphanet:525]
synonym: "frontal fibrosing alopecia (subtype)" RELATED [GARD:0003247]
synonym: "Kossard disease" RELATED [GARD:0003247]
synonym: "lichen follicularis" EXACT [Orphanet:525]
synonym: "lichen planopilaris classic type" RELATED [GARD:0003247]
synonym: "lichen planus follicularis" EXACT [Orphanet:525]
synonym: "LPP" EXACT ABBREVIATION [Orphanet:525]
xref: GARD:3247 {source="MONDO:GARD"}
xref: ICD10CM:L66.1 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"}
xref: MEDGEN:44150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535892 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"}
xref: Orphanet:525 {source="MONDO:equivalentTo"}
xref: SCTID:64540004 {source="MONDO:equivalentTo"}
xref: UMLS:C0023645 {source="MEDGEN:44150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="Orphanet:525"} ! alopecia

[Term]
id: MONDO:0018880
name: obsolete rare teratologic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:52662"}
synonym: "acquired embryofetopathy" EXACT [Orphanet:52662]
xref: GARD:22505 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:52662 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018881
name: myelodysplastic syndrome
def: "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" [NCIT:C3247]
subset: disease_grouping
subset: gard_rare {source="GARD:7132", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1480", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:52688"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysmyelopoietic syndrome" EXACT [NCIT:C3247]
synonym: "hematopoeitic - myelodysplastic syndrome (MDS)" EXACT [NCIT:C3247]
synonym: "MDS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3247, OMIM:614286]
synonym: "MDS, unclassifiable" EXACT ABBREVIATION [doi:10.5772/intechopen.82532]
synonym: "MDS-U" EXACT ABBREVIATION [doi:10.5772/intechopen.82532]
synonym: "myelodysplasia" EXACT [NCIT:C3247]
synonym: "myelodysplastic neoplasm" EXACT [NCIT:C3247]
synonym: "myelodysplastic syndrome" EXACT [MONDO:0013667, MONDO:Lexical, NCIT:C3247, OMIM:614286]
synonym: "myelodysplastic syndrome, NOS" RELATED EXCLUDE [NCIT:C3247]
synonym: "myelodysplastic syndrome, somatic" EXACT [OMIM:614286, OMIM:genemap2]
synonym: "myelodysplastic syndrome, susceptibility to" RELATED [OMIM:614286]
synonym: "myelodysplastic syndrome, unclassifiable" EXACT [doi:10.5772/intechopen.82532]
synonym: "myelodysplastic syndrome/neoplasm" EXACT [NCIT:C3247]
synonym: "Myelodysplastic Syndromes" EXACT [NORD:1480]
synonym: "myelodysplastic syndromes" EXACT [NCIT:C3247]
synonym: "oligoblastic leukaemia" EXACT OMO:0003005 []
synonym: "oligoblastic leukemia" EXACT [NCIT:C3247]
synonym: "preleukemia" EXACT [NCIT:C3247]
synonym: "smoldering leukemia" EXACT [NCIT:C3247]
synonym: "smouldering leukaemia" EXACT OMO:0003005 []
xref: DOID:0050908 {source="EFO:0000198", source="MONDO:equivalentTo"}
xref: EFO:0000198 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7132 {source="MONDO:GARD"}
xref: ICD10CM:D37-D48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:238.7 {source="DOID:0050908"}
xref: ICD9:238.75 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9989/3 {source="NCIT:C3247"}
xref: MedDRA:10028532 {source="Orphanet:52688", source="Orphanet:52688/e"}
xref: MEDGEN:483005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009190 {source="DOID:0050908", source="EFO:0000198", source="Orphanet:52688", source="Orphanet:52688/e"}
xref: MESH:D011289 {source="EFO:0000198"}
xref: NANDO:2100003 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200019 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3247 {source="EFO:0000198", source="MONDO:equivalentTo"}
xref: NORD:1480 {source="MONDO:NORD"}
xref: OMIM:614286 {source="DOID:0050908", source="EFO:0000198", source="Orphanet:52688", source="MONDO:equivalentTo", source="Orphanet:52688/e"}
xref: ONCOTREE:MDS {source="MONDO:equivalentTo"}
xref: Orphanet:52688 {source="MONDO:equivalentTo", source="OMIM:614286"}
xref: SCTID:109995007 {source="MONDO:equivalentTo"}
xref: SCTID:128623006 {source="EFO:0000198"}
xref: UMLS:C3463824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483005"}
is_a: MONDO:0015756 {source="MONDO:Redundant", source="Orphanet:52688"} ! myeloid hemopathy
is_a: MONDO:0021058 {source="NCIT:C3247"} ! neoplastic syndrome
relationship: disease_has_feature MONDO:0005170 {source="EFO:0000198", source="MONDO:Redundant", source="NCIT:C3247", source="ONCOTREE:MDS/inferred"} ! myeloid neoplasm
relationship: disease_has_feature MONDO:0021138 {source="NCIT:C3247"} ! bone marrow cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI

[Term]
id: MONDO:0018882
name: vasculitis
def: "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease." [Orphanet:52759]
subset: disease_grouping
subset: gard_rare {source="GARD:18844", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:52759"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiitis" RELATED [DOID:865]
synonym: "systemic vasculitis" NARROW [Orphanet:52759]
xref: DOID:865 {source="MONDO:equivalentTo", source="EFO:0006803"}
xref: EFO:0006803 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18844 {source="MONDO:GARD"}
xref: icd11.foundation:572581721 {source="MONDO:equivalentTo", source="Orphanet:52759"}
xref: MedDRA:10036023 {source="Orphanet:52759/e", source="Orphanet:52759"}
xref: MedDRA:10047115 {source="Orphanet:52759/e", source="Orphanet:52759"}
xref: MEDGEN:12054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014657 {source="Orphanet:52759/e", source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803", source="Orphanet:52759"}
xref: MESH:D056647 {source="Orphanet:52759/e", source="Orphanet:52759"}
xref: NCIT:C26912 {source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803", source="MONDO:exact-label-match"}
xref: Orphanet:280369 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:52759 {source="MONDO:equivalentTo"}
xref: SCTID:195375002 {source="DOID:865"}
xref: SCTID:266325003 {source="DOID:865"}
xref: SCTID:31996006 {source="DOID:865", source="MONDO:equivalentTo", source="EFO:0006803"}
xref: SCTID:393589007 {source="DOID:865"}
xref: UMLS:C0042384 {source="MEDGEN:12054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Vasculitis {source="EFO:0006803"}
is_a: MONDO:0000001 ! disease
is_a: MONDO:0005385 {source="Orphanet:52759"} ! vascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002049 ! vasculature
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019048"} ! rare

[Term]
id: MONDO:0018883
name: Berardinelli-Seip congenital lipodystrophy
def: "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance." [https://orcid.org/0000-0001-5208-3432, Orphanet:528]
subset: gard_rare {source="GARD:13388", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:528"}
subset: orphanet_rare {source="Orphanet:528"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beradinelli-Seip syndrome" EXACT [Orphanet:528]
synonym: "Berardinelli lipodystrophy syndrome" EXACT [NCIT:C84594]
synonym: "Berardinelli Seip syndrome" EXACT [NCIT:C84594]
synonym: "Brunzell syndrome" EXACT [Orphanet:528]
synonym: "BSCL" EXACT ABBREVIATION [Orphanet:528]
synonym: "congenital generalised lipodystrophy" RELATED OMO:0003005 []
synonym: "congenital generalized lipodystrophy" RELATED [NCIT:C84594]
synonym: "GCL" EXACT ABBREVIATION [Orphanet:528]
synonym: "generalised congenital lipodystrophy" EXACT OMO:0003005 []
synonym: "generalized congenital lipodystrophy" EXACT [Orphanet:528]
synonym: "Lawrence-Seip syndrome" RELATED [NCIT:C84594]
synonym: "lipoatrophic diabetes" RELATED [Orphanet:528]
synonym: "Seip-Bernardinelli syndrome" EXACT [NCIT:C84594]
synonym: "total lipodystrophy" EXACT [NCIT:C84594]
xref: GARD:13388 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:528", source="Orphanet:528/attributed", source="Orphanet:528/ntbt"}
xref: icd11.foundation:641763399 {source="MONDO:equivalentTo", source="Orphanet:528", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10024603 {source="Orphanet:528", source="Orphanet:528/e"}
xref: NANDO:1200859 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200465 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84594 {source="MONDO:equivalentTo"}
xref: Orphanet:528 {source="MONDO:equivalentTo"}
xref: SCTID:127012008 {source="MONDO:relatedTo"}
is_a: MONDO:0006573 {source="MONDO:Redundant", source="NCIT:C84594"} ! lipodystrophy
is_a: MONDO:0020087 {source="MONDO:Redundant", source="Orphanet:528"} ! hereditary lipodystrophy
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:528", source="Orphanet:528/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:528", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0018884
name: Roch-Leri mesosomatous lipomatosis
def: "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." [Orphanet:529]
subset: gard_rare {source="GARD:4733", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529"}
subset: orphanet_rare {source="Orphanet:529"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Roch-Leri syndrome" RELATED [GARD:0004733]
xref: GARD:4733 {source="MONDO:GARD"}
xref: ICD10CM:E88.2 {source="Orphanet:529", source="Orphanet:529/attributed", source="Orphanet:529/ntbt"}
xref: MEDGEN:896565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529 {source="MONDO:equivalentTo"}
xref: SCTID:716772007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274284 {source="MEDGEN:896565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019296 {source="Orphanet:529"} ! subcutaneous tissue disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015949"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis" xsd:anyURI {source="GARD:0004733"}

[Term]
id: MONDO:0018885
name: orbital leiomyoma
def: "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." [Orphanet:52994]
subset: gard_rare {source="GARD:18845", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:52994"}
subset: orphanet_rare {source="Orphanet:52994"}
subset: rare
xref: GARD:18845 {source="MONDO:GARD"}
xref: ICD10CM:D31.6 {source="Orphanet:52994", source="Orphanet:52994/ntbt"}
xref: MEDGEN:930669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:52994 {source="MONDO:equivalentTo"}
xref: SCTID:719045009 {source="MONDO:equivalentTo"}
xref: UMLS:C4305000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930669"}
is_a: MONDO:0021220 {source="Orphanet:52994"} ! eye neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015121"} ! rare

[Term]
id: MONDO:0018886
name: obsolete listeriosis
is_obsolete: true
replaced_by: MONDO:0005828

[Term]
id: MONDO:0018887
name: obsolete rare cutaneous lupus erythematosus
def: "OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE)." [Orphanet:535]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:535"}
synonym: "rare cutaneous lupus erythematosus" EXACT [MONDO:patterns/rare]
xref: GARD:6225 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:L93.0 {source="Orphanet:535", source="Orphanet:535/btnt"}
xref: ICD10CM:L93.1 {source="Orphanet:535", source="Orphanet:535/btnt"}
xref: ICD10CM:L93.2 {source="Orphanet:535", source="Orphanet:535/btnt"}
xref: MedDRA:10056509 {source="Orphanet:535", source="Orphanet:535/e"}
xref: MESH:D008178 {source="Orphanet:535", source="MONDO:relatedTo", source="Orphanet:535/e"}
xref: Orphanet:535 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005282

[Term]
id: MONDO:0018888
name: obsolete congenital cornea plana
subset: otar {source="MONDO:OTAR"}
xref: GARD:16657 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7573" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000733

[Term]
id: MONDO:0018889
name: hyaline body myopathy
subset: gard_rare {source="GARD:7148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53698"}
subset: orphanet_rare {source="Orphanet:53698"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myosin storage myopathy" EXACT [GARD:0007148, PMID:17118657]
xref: DOID:0111267 {source="MONDO:equivalentTo"}
xref: GARD:7148 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:53698", source="Orphanet:53698/attributed", source="Orphanet:53698/ntbt"}
xref: Orphanet:53698 {source="MONDO:equivalentTo"}
is_a: MONDO:0016195 {source="Orphanet:209185"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
is_a: MONDO:0019952 {source="Orphanet:53698"} ! congenital myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="Orphanet:53698"} ! MYH7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0018890
name: Lyell syndrome
def: "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." [Orphanet:537]
subset: gard_rare {source="GARD:18696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:537"}
subset: rare
xref: GARD:18696 {source="MONDO:GARD"}
xref: ICD10CM:L51.2 {source="Orphanet:537/ntbt", source="Orphanet:537"}
xref: Orphanet:537 {source="MONDO:equivalentTo"}
is_a: MONDO:0019810 {source="Orphanet:537"} ! toxic epidermal necrolysis

[Term]
id: MONDO:0018891
name: familial tumoral calcinosis
def: "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." [Orphanet:53715]
subset: gard_rare {source="GARD:10877", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53715"}
subset: orphanet_rare {source="Orphanet:53715"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0009385 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10877 {source="MONDO:GARD"}
xref: ICD10CM:M11.2 {source="Orphanet:53715", source="Orphanet:53715/attributed", source="Orphanet:53715/ntbt"}
xref: MedDRA:10059364 {source="Orphanet:53715", source="Orphanet:53715/e"}
xref: MEDGEN:452340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:53715 {source="MONDO:equivalentTo"}
xref: UMLS:C0263628 {source="MEDGEN:452340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002082 {source="MONDO:Redundant", source="Orphanet:53715"} ! endocrine gland neoplasm
is_a: MONDO:0002123 {source="https://orcid.org/0000-0001-5208-3432"} ! calcinosis
is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted", source="MONDO:0019061-obsoleted"} ! endocrine system disorder
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:53715", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis" xsd:anyURI {source="GARD:0010877"}

[Term]
id: MONDO:0018892
name: Wyburn-Mason syndrome
def: "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." [Orphanet:53719]
subset: gard_rare {source="GARD:7900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1863"}
subset: ordo_disorder {source="Orphanet:53719"}
subset: ordo_malformation_syndrome {source="Orphanet:53719"}
subset: orphanet_rare {source="Orphanet:53719"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes" RELATED [GARD:0007900]
synonym: "bonnet-Decaume-Blanc syndrome" RELATED [GARD:0007900]
synonym: "bonnet-Dechaume-Blanc syndrome" EXACT [Orphanet:53719]
synonym: "CAMS2" EXACT ABBREVIATION [Orphanet:53719]
synonym: "Cerebrofacial arteriovenous metameric syndrome type 2" EXACT [Orphanet:53719]
synonym: "Wyburn Mason syndrome" RELATED [GARD:0007900]
synonym: "Wyburn Mason's syndrome" RELATED [GARD:0007900]
xref: GARD:7900 {source="MONDO:GARD"}
xref: ICD10CM:Q28.2 {source="Orphanet:53719/attributed", source="Orphanet:53719/ntbt", source="Orphanet:53719"}
xref: MedDRA:10048661 {source="Orphanet:53719/e", source="Orphanet:53719"}
xref: MEDGEN:120534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536752 {source="Orphanet:53719/e", source="MONDO:equivalentTo", source="Orphanet:53719"}
xref: NORD:1863 {source="MONDO:NORD"}
xref: Orphanet:53719 {source="MONDO:equivalentTo"}
xref: SCTID:6729006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120534"}
is_a: MONDO:0002235 ! eyelid neoplasm
is_a: MONDO:0015405 {source="Orphanet:53719"} ! cerebrofacial arteriovenous metameric syndrome
is_a: MONDO:0019293 {source="Orphanet:53719"} ! skin vascular disease
is_a: MONDO:0042983 {source="MESH:C536752", source="Wikipedia:Phakomatosis"} ! neurocutaneous syndrome

[Term]
id: MONDO:0018893
name: Cobb syndrome
def: "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." [Orphanet:53721]
subset: gard_rare {source="GARD:11892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53721"}
subset: ordo_malformation_syndrome {source="Orphanet:53721"}
subset: orphanet_rare {source="Orphanet:53721"}
subset: rare
synonym: "Cobb's syndrome" EXACT [NCIT:C4485]
synonym: "cutaneomeningospinal angiomatosis" EXACT [Orphanet:53721]
synonym: "SAMS 1-31" EXACT [Orphanet:53721]
synonym: "spinal arteriovenous metameric syndrome" EXACT [Orphanet:53721]
xref: GARD:11892 {source="MONDO:GARD"}
xref: ICD10CM:Q27.3 {source="Orphanet:53721/ntbt", source="Orphanet:53721"}
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068841 {source="Orphanet:53721", source="Orphanet:53721/e"}
xref: MEDGEN:91079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4485 {source="MONDO:equivalentTo"}
xref: Orphanet:53721 {source="MONDO:equivalentTo"}
xref: SCTID:254774003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346068 {source="MEDGEN:91079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001256 {source="Orphanet:53721"} ! arteriovenous hemangioma/malformation
is_a: MONDO:0015356 {source="NCIT:C4485"} ! hereditary neoplastic syndrome
is_a: MONDO:0019293 {source="Orphanet:53721"} ! skin vascular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome" xsd:anyURI {source="GARD:0011892"}

[Term]
id: MONDO:0018894
name: distal hereditary motor neuropathy
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12683", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:53739"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dHMN" EXACT [Orphanet:53739]
synonym: "distal spinal muscular atrophy" EXACT [Orphanet:53739]
synonym: "dSMA" EXACT [Orphanet:53739]
synonym: "neuronopathy, distal hereditary motor" EXACT [MONDO:0000075]
xref: GARD:12683 {source="MONDO:GARD"}
xref: MEDGEN:98274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:53739 {source="MONDO:equivalentTo"}
xref: SCTID:230247001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98274"}
is_a: MONDO:0020127 {source="Orphanet:53739"} ! hereditary peripheral neuropathy
is_a: MONDO:0020128 {source="Orphanet:53739", source="Orphanet:53739/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! motor neuron disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6845" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy" xsd:anyURI {source="GARD:0012683"}

[Term]
id: MONDO:0018895
name: Plummer-Vinson syndrome
def: "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs." [Orphanet:54028]
subset: gard_rare {source="GARD:8259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:54028"}
subset: orphanet_rare {source="Orphanet:54028"}
subset: rare
synonym: "dysphagia sideropenica" RELATED [GARD:0008259]
synonym: "Kelly's syndrome" RELATED [GARD:0008259]
synonym: "Kelly-Paterson syndrome" EXACT [Orphanet:54028]
synonym: "Paterson's syndrome" RELATED [GARD:0008259]
synonym: "Paterson-Brown-Kelly syndrome" RELATED [GARD:0008259]
synonym: "Paterson-Kelly syndrome" RELATED [GARD:0008259]
synonym: "Paterson’s syndrome" RELATED [GARD:0008259]
synonym: "Plummer Vinson syndrome" RELATED [GARD:0008259]
synonym: "Sideropenic dysphagia" EXACT [Orphanet:54028]
xref: GARD:8259 {source="MONDO:GARD"}
xref: ICD10CM:D50.1 {source="Orphanet:54028", source="Orphanet:54028/ntbt"}
xref: ICD9:280.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10040664 {source="Orphanet:54028", source="Orphanet:54028/e"}
xref: MEDGEN:45967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011004 {source="Orphanet:54028", source="MONDO:equivalentTo", source="Orphanet:54028/e"}
xref: NCIT:C85016 {source="MONDO:equivalentTo"}
xref: Orphanet:54028 {source="MONDO:equivalentTo"}
xref: SCTID:80126007 {source="MONDO:equivalentTo"}
xref: UMLS:C0032249 {source="MEDGEN:45967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C85016", source="https://orcid.org/0000-0002-3458-4839"} ! syndromic disease
is_a: MONDO:0016625 {source="Orphanet:54028"} ! acquired deficiency anemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome" xsd:anyURI {source="GARD:0008259"}

[Term]
id: MONDO:0018896
name: thrombotic thrombocytopenic purpura
def: "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP." [Orphanet:54057]
subset: gard_rare {source="GARD:16659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1769"}
subset: ordo_disorder {source="Orphanet:54057"}
subset: orphanet_rare {source="Orphanet:54057"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Moschcowitz disease" EXACT [Orphanet:54057]
synonym: "Moschcowitz's syndrome" EXACT [DOID:10772]
synonym: "Moschowitz disease" EXACT [NCIT:C78797]
synonym: "TTP" EXACT ABBREVIATION [Orphanet:54057]
xref: DOID:10772 {source="MONDO:equivalentTo"}
xref: GARD:16659 {source="MONDO:GARD"}
xref: ICD10CM:M31.1 {source="Orphanet:54057/ntbt", source="Orphanet:54057", source="DOID:10772"}
xref: icd11.foundation:1708277768 {source="MONDO:equivalentTo", source="Orphanet:54057"}
xref: MedDRA:10043648 {source="Orphanet:54057/e", source="Orphanet:54057"}
xref: MEDGEN:48266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011697 {source="Orphanet:54057/e", source="MONDO:equivalentTo", source="Orphanet:54057", source="DOID:10772"}
xref: NANDO:1200316 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100189 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200649 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C78797 {source="MONDO:equivalentTo", source="DOID:10772"}
xref: NORD:1769 {source="MONDO:NORD"}
xref: Orphanet:54057 {source="MONDO:equivalentTo"}
xref: SCTID:155443009 {source="DOID:10772"}
xref: SCTID:195358008 {source="DOID:10772"}
xref: SCTID:195359000 {source="DOID:10772"}
xref: SCTID:360402008 {source="DOID:10772"}
xref: SCTID:78129009 {source="MONDO:equivalentTo", source="DOID:10772"}
xref: UMLS:C0034155 {source="MEDGEN:48266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002305 {source="DOID:10772", source="MESH:D011697"} ! thrombophilia
is_a: MONDO:0019737 {source="MESH:D011697/inferred", source="NCIT:C78797", source="Orphanet:54057"} ! thrombotic microangiopathy
is_a: MONDO:0043768 {source="MESH:D011697", source="NCIT:C78797"} ! thrombocytopenic purpura

[Term]
id: MONDO:0018897
name: primary cutaneous CD30+ T-cell lymphoproliferative disease
subset: disease_grouping
subset: gard_rare {source="GARD:18697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:541"}
subset: rare
synonym: "primary cutaneous Ki-1+ T-cell lymphoproliferative disease" EXACT [Orphanet:541]
xref: GARD:18697 {source="MONDO:GARD"}
xref: ICD10CM:C86.6 {source="Orphanet:541/e", source="Orphanet:541"}
xref: icd11.foundation:1046496266 {source="MONDO:equivalentTo", source="Orphanet:541", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10065863 {source="Orphanet:541/e", source="Orphanet:541"}
xref: MEDGEN:1843249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054446 {source="Orphanet:541/e", source="Orphanet:541"}
xref: Orphanet:541 {source="MONDO:equivalentTo"}
xref: UMLS:C5679826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843249"}
is_a: MONDO:0015816 {source="Orphanet:541"} ! indolent primary cutaneous T-cell lymphoma

[Term]
id: MONDO:0018898
name: primary cutaneous lymphoma
def: "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." [Orphanet:542]
subset: disease_grouping
subset: gard_rare {source="GARD:18698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:542"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutaneous (skin) lymphoma" EXACT [NCIT:C7162]
synonym: "primary cutaneous lymphoma" EXACT [NCIT:C7162]
synonym: "primary skin lymphoma" EXACT [NCIT:C7162]
xref: GARD:18698 {source="MONDO:GARD"}
xref: MedDRA:10051708 {source="Orphanet:542/e", source="Orphanet:542"}
xref: MEDGEN:220981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7162 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:542 {source="MONDO:equivalentTo"}
xref: SCTID:400001003 {source="MONDO:equivalentTo"}
xref: UMLS:C1302772 {source="MEDGEN:220981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002898 {source="MONDO:Entailed", source="NCIT:C7162"} ! skin cancer
is_a: MONDO:0017207 {source="Orphanet:542"} ! primary organ-specific lymphoma
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:542", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0018899
name: posterior cortical atrophy
def: "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." [Orphanet:54247]
subset: gard_rare {source="GARD:18846", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:54247"}
subset: orphanet_rare {source="Orphanet:54247"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Benson syndrome" EXACT [Orphanet:54247]
synonym: "biparietal Alzheimer disease" EXACT [Orphanet:54247]
synonym: "PCA" EXACT ABBREVIATION [Orphanet:54247]
xref: GARD:18846 {source="MONDO:GARD"}
xref: ICD10CM:G31.1 {source="Orphanet:54247/attributed", source="Orphanet:54247/ntbt", source="Orphanet:54247"}
xref: icd11.foundation:377572273 {source="Orphanet:54247", source="MONDO:equivalentTo"}
xref: MEDGEN:909667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:54247 {source="MONDO:equivalentTo"}
xref: SCTID:715574002 {source="MONDO:equivalentTo"}
xref: UMLS:C4275079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909667"}
is_a: MONDO:0015547 ! hereditary dementia
is_a: MONDO:0024237 {source="Orphanet:54247"} ! inherited neurodegenerative disorder

[Term]
id: MONDO:0018900
name: corticosteroid-sensitive aseptic abscess syndrome
def: "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders." [Orphanet:54251]
subset: gard_rare {source="GARD:10946", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:54251"}
subset: orphanet_rare {source="Orphanet:54251"}
subset: rare
synonym: "aseptic abscesses syndrome" EXACT [Orphanet:54251]
synonym: "aseptic systemic abscesses" EXACT [Orphanet:54251]
synonym: "corticosteroid-sensitive aseptic abscesses" RELATED [GARD:0010946]
synonym: "disseminated aseptic abscesses" EXACT [Orphanet:54251]
xref: GARD:10946 {source="MONDO:GARD"}
xref: MEDGEN:929532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:54251 {source="MONDO:equivalentTo"}
xref: SCTID:720751000 {source="MONDO:equivalentTo"}
xref: UMLS:C4303863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929532"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder

[Term]
id: MONDO:0018901
name: left ventricular noncompaction
def: "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." [Orphanet:54260]
subset: gard_rare {source="GARD:10985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:54260"}
subset: orphanet_rare {source="Orphanet:54260"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "left ventricular hypertrabeculation" EXACT [DOID:0060480, Orphanet:54260]
synonym: "left ventricular non-compaction cardiomyopathy" EXACT [NCIT:C99544]
synonym: "left ventricular non-compaction syndrome" EXACT [NCIT:C99544]
synonym: "left ventricular noncompaction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Lv non-compaction syndrome" EXACT [NCIT:C99544]
synonym: "LVNC" EXACT ABBREVIATION [Orphanet:54260]
synonym: "spongy myocardium" EXACT [Orphanet:54260]
xref: DOID:0060480 {source="MONDO:equivalentTo"}
xref: GARD:10985 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:54260", source="Orphanet:54260/attributed", source="Orphanet:54260/ntbt"}
xref: MEDGEN:450531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200231 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99544 {source="MONDO:equivalentTo"}
xref: OMIMPS:604169 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:54260 {source="MONDO:equivalentTo", source="DOID:0060480"}
xref: UMLS:C1960469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450531"}
is_a: MONDO:0000591 {source="DOID:0060480", source="Wikipedia:Cardiomyopathy"} ! intrinsic cardiomyopathy
is_a: MONDO:0002254 {source="NCIT:C99544"} ! syndromic disease
is_a: MONDO:0005453 {source="NCIT:C99544"} ! congenital heart disease
relationship: disease_has_feature HP:0030682 {source="https://github.com/monarch-initiative/mondo/issues/1175"} ! Left ventricular noncompaction
relationship: excluded_subClassOf MONDO:0018797 {source="Orphanet:3384", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic cardiac malformation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604169"} ! inherited
property_value: IAO:0000589 "left ventricular noncompaction (disease)" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction" xsd:anyURI {source="GARD:0010985"}

[Term]
id: MONDO:0018902
name: hepatocellular adenoma
def: "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." [NCIT:C3758]
subset: gard_rare {source="GARD:18847", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:54272"}
subset: orphanet_rare {source="Orphanet:54272"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoma of liver cells" EXACT [NCIT:C3758]
synonym: "adenoma of the liver cells" EXACT [NCIT:C3758]
synonym: "adenoma, hepatocellular, benign" EXACT [NCIT:C3758]
synonym: "HCA" EXACT ABBREVIATION [NCIT:C3758]
synonym: "hepatocellular adenoma" EXACT [NCIT:C3758]
synonym: "LIAD" RELATED ABBREVIATION [ONCOTREE:LIAD]
synonym: "liver cell adenoma" EXACT [NCIT:C3758]
xref: DOID:0050868 {source="MONDO:equivalentTo", source="EFO:0000762"}
xref: EFO:0000762 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18847 {source="MONDO:GARD"}
xref: ICD10CM:D13.4 {source="Orphanet:54272/ntbt", source="Orphanet:54272"}
xref: ICDO:8170/0 {source="NCIT:C3758"}
xref: MedDRA:10019827 {source="Orphanet:54272/e", source="Orphanet:54272"}
xref: MEDGEN:61655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018248 {source="Orphanet:54272/e", source="MONDO:equivalentTo", source="Orphanet:54272"}
xref: NCIT:C3758 {source="MONDO:equivalentTo", source="EFO:0000762", source="MONDO:exact-label-match"}
xref: ONCOTREE:LIAD {source="MONDO:equivalentTo"}
xref: Orphanet:54272 {source="MONDO:equivalentTo"}
xref: SCTID:78058005 {source="EFO:0000762"}
xref: UMLS:C0206669 {source="MEDGEN:61655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="MONDO:Entailed"} ! benign digestive system neoplasm
is_a: MONDO:0004972 {source="DOID:0050868", source="EFO:0000762", source="MESH:D018248", source="NCIT:C3758"} ! adenoma
is_a: MONDO:0024477 {source="Orphanet:54272"} ! liver and intrahepatic bile duct neoplasm
relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017632"} ! rare

[Term]
id: MONDO:0018903
name: sarcocystosis
def: "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism." [MESH:D012523]
subset: gard_rare {source="GARD:18848", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:54368"}
subset: orphanet_rare {source="Orphanet:54368"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sarcosporidiosis" EXACT [DOID:9640, ICD9CM:136.5, Orphanet:54368]
xref: DOID:9640 {source="MONDO:equivalentTo", source="EFO:0007476"}
xref: EFO:0007476 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18848 {source="MONDO:GARD"}
xref: ICD10CM:A07.8 {source="Orphanet:54368/ntbt", source="Orphanet:54368", source="DOID:9640"}
xref: icd11.foundation:261748740 {source="Orphanet:54368", source="MONDO:equivalentTo"}
xref: ICD9:136.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9640"}
xref: MedDRA:10039483 {source="Orphanet:54368", source="Orphanet:54368/e"}
xref: MEDGEN:48559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012523 {source="Orphanet:54368", source="MONDO:equivalentTo", source="Orphanet:54368/e", source="DOID:9640", source="EFO:0007476"}
xref: Orphanet:54368 {source="MONDO:equivalentTo"}
xref: SCTID:88905005 {source="MONDO:equivalentTo", source="DOID:9640"}
xref: UMLS:C0036231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48559"}
is_a: MONDO:0005135 {source="MONDO:Redundant", source="Orphanet:54368"} ! parasitic infectious disease
is_a: MONDO:0005707 {source="DOID:9640", source="MESH:D012523"} ! coccidiosis
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: disease_has_feature HP:0002829 ! Arthralgia
relationship: disease_has_feature HP:0010783 ! Erythema
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0018904
name: primary membranoproliferative glomerulonephritis
def: "A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded." [Orphanet:54370]
subset: gard_rare {source="GARD:11982", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:54370"}
subset: orphanet_rare {source="Orphanet:54370"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "membranoproliferative glomerulonephritis" RELATED [NCIT:C34644]
synonym: "Mesangiocapillary glomerulonephritis" EXACT [Orphanet:54370]
synonym: "MPGN" EXACT ABBREVIATION [Orphanet:54370]
xref: GARD:11982 {source="MONDO:GARD"}
xref: ICD10CM:N00.5 {source="Orphanet:54370/inclusion", source="Orphanet:54370", source="Orphanet:54370/ntbt"}
xref: ICD9:583.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10018370 {source="Orphanet:54370", source="Orphanet:54370/e"}
xref: MESH:D015432 {source="Orphanet:54370", source="Orphanet:54370/e"}
xref: NANDO:1200725 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200123 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:54370 {source="MONDO:equivalentTo"}
xref: SCTID:80321008 {source="MONDO:relatedTo"}
is_a: MONDO:0002462 {source="NCIT:C34644"} ! glomerulonephritis

[Term]
id: MONDO:0018905
name: diffuse large B-cell lymphoma
def: "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." [Orphanet:544]
subset: disease_grouping
subset: gard_rare {source="GARD:3178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:544"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "diffuse large B-cell lymphoma" EXACT [MONDO:0005018, NCIT:C8851]
synonym: "DLBCL" EXACT ABBREVIATION [NCIT:C8851, Orphanet:544]
xref: DOID:0050745 {source="MONDO:equivalentTo", source="EFO:0000403"}
xref: EFO:0000403 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3178 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:544", source="Orphanet:544/e"}
xref: icd11.foundation:1946973604 {source="Orphanet:544", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:200.7 {source="EFO:0000403"}
xref: ICDO:9680/3 {source="NCIT:C8851"}
xref: MedDRA:10012818 {source="Orphanet:544", source="Orphanet:544/e"}
xref: MEDGEN:86954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016403 {source="Orphanet:544", source="MONDO:equivalentTo", source="Orphanet:544/e", source="EFO:0000403"}
xref: NCIT:C8851 {source="MONDO:equivalentTo", source="EFO:0000403"}
xref: Orphanet:544 {source="MONDO:equivalentTo"}
xref: UMLS:C0079744 {source="MEDGEN:86954", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004949 {source="EFO:0000403", source="NCIT:C8851/inferred"} ! neoplasm of mature B-cells
is_a: MONDO:0017595 {source="Orphanet:544"} ! aggressive B-cell non-Hodgkin lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma" xsd:anyURI {source="GARD:0003178"}

[Term]
id: MONDO:0018906
name: follicular lymphoma
def: "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." [Orphanet:545]
subset: gard_rare {source="GARD:2356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1983"}
subset: ordo_disorder {source="Orphanet:545"}
subset: orphanet_rare {source="Orphanet:545"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "follicle center lymphoma" EXACT [NCIT:C3209]
synonym: "follicle centre lymphoma" EXACT OMO:0003005 []
synonym: "follicular center cell lymphoma" EXACT [NCIT:C3209]
synonym: "follicular centre cell lymphoma" EXACT OMO:0003005 []
synonym: "follicular non-Hodgkin lymphoma" EXACT [NCIT:C3209]
synonym: "follicular non-Hodgkin's lymphoma" EXACT [NCIT:C3209]
synonym: "lymphoma, follicular" RELATED [GARD:0002356]
synonym: "lymphoma, follicular center cell" EXACT [NCIT:C3209]
synonym: "lymphoma, follicular centre cell" EXACT OMO:0003005 []
synonym: "lymphoma, follicular, malignant" EXACT [NCIT:C3209]
xref: DOID:0050873 {source="MONDO:equivalentTo"}
xref: GARD:2356 {source="MONDO:GARD"}
xref: HGNC:990 {source="GARD:0002356"}
xref: ICD10CM:C82.0 {source="Orphanet:545/btnt", source="Orphanet:545"}
xref: ICD10CM:C82.1 {source="Orphanet:545/btnt", source="Orphanet:545"}
xref: ICD10CM:C82.2 {source="Orphanet:545/btnt", source="Orphanet:545"}
xref: ICD10CM:C82.3 {source="Orphanet:545/btnt", source="Orphanet:545"}
xref: ICD10CM:C82.4 {source="Orphanet:545/btnt", source="Orphanet:545"}
xref: ICD10CM:C82.5 {source="Orphanet:545/btnt", source="Orphanet:545"}
xref: ICD10CM:C82.6 {source="Orphanet:545/btnt", source="Orphanet:545"}
xref: ICD10CM:C82.9 {source="Orphanet:545/btnt", source="Orphanet:545"}
xref: ICDO:9690/3 {source="NCIT:C3209"}
xref: MEDGEN:7417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008224 {source="Orphanet:545", source="DOID:0050873", source="MONDO:equivalentTo", source="Orphanet:545/e"}
xref: NCIT:C3209 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1983 {source="MONDO:NORD"}
xref: ONCOTREE:FL {source="MONDO:equivalentTo"}
xref: Orphanet:545 {source="MONDO:equivalentTo"}
xref: SCTID:308121000 {source="MONDO:equivalentTo"}
xref: UMLS:C0024301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7417"}
is_a: MONDO:0004949 {source="NCIT:C3209/inferred", source="ONCOTREE:FL"} ! neoplasm of mature B-cells
is_a: MONDO:0017594 {source="Orphanet:545"} ! indolent B-cell non-Hodgkin lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma" xsd:anyURI {source="GARD:0002356"}

[Term]
id: MONDO:0018907
name: craniopharyngioma
def: "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" [NCIT:C2964]
subset: gard_rare {source="GARD:10486", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1996"}
subset: ordo_disorder {source="Orphanet:54595"}
subset: orphanet_rare {source="Orphanet:54595"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Adamantinomatous tumor" RELATED [GARD:0010486]
synonym: "Adamantinomatous tumour" RELATED OMO:0003005 []
synonym: "craniopharyngeal duct tumor" RELATED [GARD:0010486]
synonym: "craniopharyngeal duct tumour" RELATED OMO:0003005 []
synonym: "craniopharyngioma (morphologic abnormality)" EXACT [DOID:3840]
synonym: "craniopharyngioma (WHO grade I)" EXACT [NCIT:C2964]
synonym: "craniopharyngioma, benign" EXACT [NCIT:C2964]
synonym: "cystoma" RELATED [NCIT:C2964]
synonym: "Dysodontogenic epithelial tumor" RELATED [GARD:0010486]
synonym: "Dysodontogenic epithelial tumour" RELATED OMO:0003005 []
synonym: "neoplasm of Rathke's pouch" EXACT [DOID:3840, NCIT:C2964]
synonym: "Rathke pouch neoplasm" EXACT [NCIT:C2964]
synonym: "Rathke pouch tumor" EXACT [NCIT:C2964]
synonym: "Rathke pouch tumour" EXACT OMO:0003005 []
synonym: "Rathke's pouch neoplasm" EXACT [NCIT:C2964]
synonym: "Rathke's pouch tumor" EXACT [NCIT:C2964]
synonym: "Rathke's pouch tumour" EXACT OMO:0003005 []
synonym: "tumor of Rathke's pouch" EXACT [NCIT:C2964]
synonym: "tumour of Rathke's pouch" EXACT OMO:0003005 []
xref: DOID:3840 {source="MONDO:equivalentTo"}
xref: EFO:1000209 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10486 {source="MONDO:GARD"}
xref: ICD10CM:D44.4 {source="Orphanet:54595/specific", source="Orphanet:54595/e", source="Orphanet:54595"}
xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9350/1 {source="NCIT:C2964"}
xref: MedDRA:10011318 {source="Orphanet:54595/e", source="Orphanet:54595"}
xref: MEDGEN:41339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003397 {source="DOID:3840", source="Orphanet:54595/e", source="MONDO:equivalentTo", source="Orphanet:54595"}
xref: NANDO:2200091 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2964 {source="DOID:3840", source="MONDO:equivalentTo", source="EFO:1000209"}
xref: NORD:1996 {source="MONDO:NORD"}
xref: Orphanet:54595 {source="MONDO:equivalentTo"}
xref: SCTID:189179009 {source="DOID:3840", source="MONDO:equivalentTo"}
xref: SCTID:40009002 {source="DOID:3840"}
xref: UMLS:C0010276 {source="MEDGEN:41339", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000628 {source="DOID:3840", source="MONDO:Redundant"} ! central nervous system organ benign neoplasm
is_a: MONDO:0002532 {source="NCIT:C2964"} ! squamous cell neoplasm
is_a: MONDO:0002720 {source="MONDO:Redundant", source="NCIT:C2964"} ! sella turcica neoplasm
is_a: MONDO:0021248 {source="MONDO:Redundant", source="Orphanet:54595"} ! nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure UBERON:0012287 ! Rathkes pouch epithelium
intersection_of: disease_has_location UBERON:0003689 ! sella turcica
relationship: excluded_subClassOf MONDO:0015514 {source="MONDO:Redundant", source="Orphanet:54595", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary endocrine growth disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020036"} ! rare
relationship: has_characteristic MONDO:0024491 {source="NCIT:C2964"} ! tumor grade 1, general grading system

[Term]
id: MONDO:0018908
name: non-Hodgkin lymphoma
def: "Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." [NCIT:C3211]
subset: disease_grouping
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:547"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NHL" EXACT ABBREVIATION [NCIT:C3211, Orphanet:547]
synonym: "NHL, NOS" RELATED EXCLUDE [NCIT:C3211]
synonym: "non-Hodgkin lymphoma" EXACT [NCIT:C3211]
synonym: "non-Hodgkin lymphoma, NOS" RELATED EXCLUDE [NCIT:C3211]
synonym: "non-Hodgkin's lymphoma" EXACT [NCIT:C3211]
synonym: "non-Hodgkin's lymphoma (NHL)" EXACT [NCIT:C3211]
synonym: "non-Hodgkins lymphoma" EXACT [MONDO:0005587]
xref: DOID:0060060 {source="EFO:0005952", source="MONDO:equivalentTo"}
xref: EFO:0005952 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9591/3 {source="NCIT:C3211"}
xref: MedDRA:10029547 {source="Orphanet:547", source="Orphanet:547/e"}
xref: MEDGEN:6160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008228 {source="Orphanet:547", source="MONDO:equivalentTo", source="Orphanet:547/e"}
xref: NCIT:C3211 {source="EFO:0005952", source="MONDO:equivalentTo"}
xref: ONCOTREE:NHL {source="MONDO:equivalentTo"}
xref: Orphanet:547 {source="MONDO:equivalentTo"}
xref: UMLS:C0024305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6160"}
is_a: MONDO:0005062 {source="DOID:0060060", source="EFO:0005952", source="MESH:D008228", source="NCIT:C3211", source="Orphanet:547"} ! lymphoma

[Term]
id: MONDO:0018909
name: obsolete legionellosis
is_obsolete: true
replaced_by: MONDO:0005823

[Term]
id: MONDO:0018910
name: oculocutaneous albinism
def: "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." [Orphanet:55]
subset: disease_grouping
subset: gard_rare {source="GARD:10958", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1522"}
subset: ordo_group_of_disorders {source="Orphanet:55"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism, oculocutaneous" RELATED [GARD:0010958]
synonym: "non-syndromic oculocutaneous albinism" EXACT []
synonym: "nonsyndromic oculocutaneous albinism" EXACT [https://github.com/monarch-initiative/mondo/issues/641]
synonym: "OCA" EXACT ABBREVIATION [Orphanet:55]
xref: DOID:0050632 {source="MONDO:equivalentTo"}
xref: GARD:10958 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:55/ntbt", source="Orphanet:55", source="DOID:0050632", source="Orphanet:55/inclusion"}
xref: icd11.foundation:1189424097 {source="Orphanet:55", source="MONDO:equivalentTo"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:36250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016115 {source="Orphanet:55", source="MONDO:equivalentTo", source="Orphanet:55/e"}
xref: NANDO:1200637 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200641 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200986 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84941 {source="MONDO:equivalentTo"}
xref: NORD:1522 {source="MONDO:NORD"}
xref: OMIMPS:203100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:55 {source="DOID:0050632", source="MONDO:equivalentTo"}
xref: SCTID:63844009 {source="MONDO:equivalentTo"}
xref: UMLS:C0078918 {source="MEDGEN:36250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018134 {source="Orphanet:55"} ! disorder of melanin metabolism
is_a: MONDO:0019290 {source="MESH:D016115/inferred", source="Orphanet:55"} ! hypopigmentation of the skin
relationship: excluded_subClassOf MONDO:0006025 {source="DOID:0050632", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:203100"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism" xsd:anyURI {source="GARD:0010958"}

[Term]
id: MONDO:0018911
name: maturity-onset diabetes of the young
def: "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." [Orphanet:552]
subset: gard_rare {source="GARD:3697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:552"}
subset: orphanet_rare {source="Orphanet:552"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mason type diabetes" RELATED [GARD:0003697]
synonym: "Mason-type diabetes" EXACT [DOID:0050524]
synonym: "maturity onset diabetes of the young" EXACT [NCIT:C114769]
synonym: "maturity-onset diabetes of the young" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical, OMIM:606391, Orphanet:552]
synonym: "maturity-onset diabetes of the young (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "MODY" EXACT ABBREVIATION [DOID:0050524, MONDO:Lexical, OMIM:606391]
xref: DOID:0050524 {source="MONDO:equivalentTo"}
xref: GARD:3697 {source="MONDO:GARD"}
xref: HP:0004904 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E11.8 {source="DOID:0050524"}
xref: ICD10CM:E11.9 {source="Orphanet:552/attributed", source="Orphanet:552/ntbt", source="Orphanet:552"}
xref: MEDGEN:87433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562772 {source="MONDO:equivalentTo"}
xref: NANDO:2200462 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C114769 {source="MONDO:equivalentTo"}
xref: OMIM:606391 {source="DOID:0050524", source="MONDO:equivalentTo", source="Orphanet:552/btnt", source="Orphanet:552"}
xref: Orphanet:552 {source="DOID:0050524", source="MONDO:equivalentTo", source="OMIM:606391"}
xref: SCTID:609561005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87433"}
is_a: MONDO:0005015 {source="MESH:C562772/inferred", source="MONDO:0015887-obsoleted", source="MONDO:Redundant", source="NCIT:C114769", source="Orphanet:552", source="Orphanet:552/inferred"} ! diabetes mellitus
is_a: MONDO:0015967 {source="https://doi.org/10.2337/dci20-0065", source="https://orcid.org/0000-0002-6601-2165"} ! monogenic diabetes
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000589 "maturity-onset diabetes of the young (disease)" xsd:string

[Term]
id: MONDO:0018912
name: Cushing syndrome
def: "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." [Orphanet:553]
comment: Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form
subset: disease_grouping
subset: gard_rare {source="GARD:6224", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal hyperfunction resulting from pituitary ACTH excess" RELATED [GARD:0006224]
synonym: "cortisol Excess" EXACT [NCIT:C2969]
synonym: "Cushing syndrome" EXACT [DOID:12252]
synonym: "Cushing's syndrome" EXACT [Orphanet:553]
synonym: "ectopic adrenocorticotropic hormone syndrome" RELATED [GARD:0006224]
synonym: "hyperadrenocorticism" EXACT [Orphanet:553]
synonym: "hypercortisolism" BROAD [Orphanet:553]
synonym: "nodular primary adrenocortical dysplasia" RELATED [GARD:0006224]
synonym: "pituitary basophilism" EXACT [DOID:12252]
synonym: "suprarenogenic syndrome" EXACT [DOID:12252]
xref: DOID:12252 {source="EFO:0003099", source="MONDO:obsolete"}
xref: EFO:0003099 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6224 {source="MONDO:GARD"}
xref: ICD10CM:E24 {source="MONDO:equivalentTo", source="DOID:12252"}
xref: ICD10CM:E24.0 {source="Orphanet:553/btnt", source="Orphanet:553"}
xref: ICD10CM:E24.1 {source="Orphanet:553/btnt", source="Orphanet:553"}
xref: ICD10CM:E24.2 {source="Orphanet:553/btnt", source="Orphanet:553"}
xref: ICD10CM:E24.3 {source="Orphanet:553/btnt", source="Orphanet:553"}
xref: ICD10CM:E24.4 {source="Orphanet:553/btnt", source="Orphanet:553"}
xref: ICD10CM:E24.8 {source="Orphanet:553/btnt", source="Orphanet:553"}
xref: ICD10CM:E24.9 {source="Orphanet:553/btnt", source="DOID:12252", source="Orphanet:553"}
xref: ICD9:255.0 {source="EFO:0003099", source="DOID:12252"}
xref: MedDRA:10011652 {source="Orphanet:553/e", source="Orphanet:553"}
xref: MedDRA:10020562 {source="Orphanet:553/e", source="Orphanet:553"}
xref: MedDRA:10020564 {source="Orphanet:553/e", source="Orphanet:553"}
xref: MedDRA:10020610 {source="Orphanet:553/e", source="Orphanet:553"}
xref: MEDGEN:3681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000308 {source="MONDO:relatedTo", source="Orphanet:553/e", source="Orphanet:553"}
xref: MESH:D003480 {source="EFO:0003099", source="Orphanet:553/e", source="MONDO:equivalentTo", source="DOID:12252", source="Orphanet:553"}
xref: NCIT:C2969 {source="EFO:0003099", source="MONDO:equivalentTo", source="DOID:12252"}
xref: Orphanet:553 {source="MONDO:equivalentTo"}
xref: SCTID:154705004 {source="DOID:12252"}
xref: SCTID:190505004 {source="DOID:12252"}
xref: SCTID:47270006 {source="DOID:12252"}
xref: UMLS:C0010481 {source="MEDGEN:3681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C2969/inferred"} ! syndromic disease
is_a: MONDO:0005495 {source="Orphanet:553"} ! adrenal gland disorder
relationship: excluded_subClassOf MONDO:0006640 {source="DOID:12252", source="MESH:D003480", source="https://orcid.org/0000-0001-5208-3432"} ! adrenal gland hyperfunction
relationship: realized_in_response_to ECTO:0000259 ! exposure to glucocorticoid

[Term]
id: MONDO:0018913
name: malakoplakia
def: "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." [Orphanet:556]
subset: gard_rare {source="GARD:6960", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:556"}
subset: orphanet_rare {source="Orphanet:556"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malacoplakia" RELATED [GARD:0006960]
xref: EFO:1001807 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6960 {source="MONDO:GARD"}
xref: MEDGEN:44257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008287 {source="MONDO:equivalentTo"}
xref: NCIT:C84833 {source="MONDO:equivalentTo"}
xref: Orphanet:556 {source="MONDO:equivalentTo"}
xref: SCTID:716766007 {source="MONDO:equivalentTo"}
xref: UMLS:C0024525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44257"}
is_a: MONDO:0005020 {source="Orphanet:556"} ! intestinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6960/malakoplakia" xsd:anyURI {source="GARD:0006960"}

[Term]
id: MONDO:0018914
name: hypotrichosis simplex
def: "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." [Orphanet:55654]
subset: gard_rare {source="GARD:9170", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:55654"}
subset: orphanet_rare {source="Orphanet:55654"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary hypotrichosis simplex" NARROW [Orphanet:55654]
xref: GARD:9170 {source="MONDO:GARD"}
xref: ICD10CM:L65.8 {source="Orphanet:55654", source="Orphanet:55654/attributed", source="Orphanet:55654/ntbt"}
xref: MEDGEN:344257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537160 {source="Orphanet:55654", source="MONDO:equivalentTo", source="Orphanet:55654/e"}
xref: Orphanet:55654 {source="MONDO:equivalentTo"}
xref: SCTID:723362004 {source="MONDO:equivalentTo"}
xref: UMLS:C1854310 {source="MONDO:equivalentTo", source="MEDGEN:344257", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="Orphanet:55654"} ! alopecia

[Term]
id: MONDO:0018915
name: obsolete pneumococcal meningitis
is_obsolete: true
replaced_by: MONDO:0006913

[Term]
id: MONDO:0018916
name: obsolete isolated anorectal malformation
def: "OBSOLETE. Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." [Orphanet:557]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:557"}
subset: otar {source="MONDO:OTAR"}
synonym: "nonsyndromic anorectal malformation" EXACT [MONDO:patterns/isolated]
xref: GARD:16534 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q42.0 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"}
xref: ICD10CM:Q42.1 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"}
xref: ICD10CM:Q42.2 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"}
xref: ICD10CM:Q42.3 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"}
xref: MESH:C537771 {source="Orphanet:557", source="Orphanet:557/e"}
xref: Orphanet:557 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0018917
name: obsolete Marfan syndrome
is_obsolete: true
replaced_by: MONDO:0007947

[Term]
id: MONDO:0018918
name: carcinoma of gallbladder and extrahepatic biliary tract
def: "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites." [Orphanet:56044]
subset: disease_grouping
subset: gard_rare {source="GARD:18850", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:56044"}
subset: rare
synonym: "carcinoma of gallbladder and EBT" EXACT [Orphanet:56044]
xref: GARD:18850 {source="MONDO:GARD"}
xref: MedDRA:10007426 {source="Orphanet:56044/e", source="Orphanet:56044"}
xref: MEDGEN:1797980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:56044 {source="MONDO:equivalentTo"}
xref: UMLS:C5566557 {source="MONDO:equivalentTo", source="MEDGEN:1797980", source="MONDO:MEDGEN"}
is_a: MONDO:0002514 {source="MONDO:0017631-obsoleted"} ! hepatobiliary neoplasm
is_a: MONDO:0021385 {source="MONDO:0017631-obsoleted"} ! extrahepatic bile duct neoplasm

[Term]
id: MONDO:0018919
name: McCune-Albright syndrome
def: "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP)." [Orphanet:562]
subset: gard_rare {source="GARD:6995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1413"}
subset: ordo_disorder {source="Orphanet:562"}
subset: orphanet_rare {source="Orphanet:562"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Albright's disease" EXACT [GARD:0006995]
synonym: "gonadotropin-independent female-limited sexual precocity" EXACT [Orphanet:562]
synonym: "MAS" EXACT ABBREVIATION [NCIT:C48627]
synonym: "McCune Albright Syndrome" EXACT [NORD:1413]
synonym: "McCune Albright syndrome" EXACT [NCIT:C48627]
synonym: "mccune-albright syndrome, somatic, mosaic" EXACT [OMIM:174800, OMIM:genemap2]
synonym: "PFD" RELATED ABBREVIATION [GARD:0006995]
synonym: "POFD" RELATED ABBREVIATION [GARD:0006995]
synonym: "polyostotic fibrous dysplasia" RELATED [DOID:1858, OMIM:174800]
xref: DOID:1858 {source="MONDO:equivalentTo"}
xref: GARD:6995 {source="MONDO:GARD"}
xref: ICD10CM:Q78.1 {source="MONDO:relatedTo", source="Orphanet:562/ntbt", source="Orphanet:562/inclusion", source="Orphanet:562"}
xref: MEDGEN:69164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005357 {source="DOID:1858"}
xref: MESH:D005359 {source="Orphanet:562/e", source="MONDO:relatedTo", source="Orphanet:562"}
xref: NANDO:2200412 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C48627 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: NORD:1413 {source="MONDO:NORD"}
xref: OMIM:174800 {source="Orphanet:562/e", source="MONDO:equivalentTo", source="DOID:1858", source="Orphanet:562"}
xref: Orphanet:562 {source="MONDO:equivalentTo"}
xref: SCTID:726029005 {source="MONDO:equivalentTo"}
xref: UMLS:C0242292 {source="MEDGEN:69164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:174800"} ! hereditary disease
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
relationship: disease_has_feature MONDO:0015791 {source="Orphanet:562"} ! peripheral precocious puberty
relationship: disease_has_feature MONDO:0018561 {source="Orphanet:562"} ! precocious puberty in female
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:562"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0000426 {source="DOID:1858", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant disease
relationship: excluded_subClassOf MONDO:0015945 {source="Orphanet:562", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete polymalformative genetic syndrome with increased risk of developing cancer
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:562", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0018920
name: peripartum cardiomyopathy
def: "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." [Orphanet:563]
subset: gard_rare {source="GARD:220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:563"}
subset: orphanet_rare {source="Orphanet:563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antepartum peripartum cardiomyopathy" EXACT [DOID:9997]
synonym: "Meadows' syndrome" RELATED [GARD:0000220]
synonym: "peripartum cardiomyopathy" EXACT [MONDO:0005199]
synonym: "postpartum cardiomyopathy" EXACT [GARD:0000220, Orphanet:563]
synonym: "postpartum peripartum cardiomyopathy" EXACT [DOID:9997]
xref: DOID:9997 {source="MONDO:equivalentTo", source="EFO:0002628"}
xref: EFO:0002628 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:220 {source="MONDO:GARD"}
xref: ICD10CM:O90.3 {source="DOID:9997", source="Orphanet:563/e", source="MONDO:equivalentTo", source="Orphanet:563"}
xref: icd11.foundation:1218807936 {source="MONDO:equivalentTo", source="Orphanet:563", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:674.5 {source="DOID:9997", source="EFO:0002628"}
xref: ICD9:674.54 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10049430 {source="Orphanet:563/e", source="Orphanet:563"}
xref: MEDGEN:163756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C171602 {source="MONDO:equivalentTo"}
xref: Orphanet:563 {source="GARD:0000220", source="MONDO:equivalentTo"}
xref: SCTID:16253001 {source="DOID:9997"}
xref: SCTID:62377009 {source="MONDO:equivalentTo", source="EFO:0002628"}
xref: UMLS:C0877208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163756"}
is_a: MONDO:0005021 {source="DOID:9997", source="EFO:0002628", source="MONDO:Redundant", source="Orphanet:563/inferred"} ! dilated cardiomyopathy
is_a: MONDO:0016338 {source="Orphanet:563"} ! non-familial dilated cardiomyopathy
is_a: MONDO:0024575 {source="Orphanet:563"} ! pregnancy disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare

[Term]
id: MONDO:0018921
name: Meckel syndrome
def: "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." [https://orcid.org/0000-0001-5208-3432, Orphanet:564]
subset: gard_rare {source="GARD:3436", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:564"}
subset: ordo_malformation_syndrome {source="Orphanet:564"}
subset: orphanet_rare {source="Orphanet:564"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Meckel-Gruber syndrome" EXACT [DOID:0050778, Orphanet:564]
xref: DOID:0050778 {source="MONDO:equivalentTo"}
xref: GARD:3436 {source="MONDO:GARD"}
xref: ICD10CM:Q61.9 {source="Orphanet:564/ntbt", source="Orphanet:564/inclusion", source="Orphanet:564"}
xref: icd11.foundation:695796893 {source="MONDO:equivalentTo", source="Orphanet:564", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:753.1 {source="DOID:0050778"}
xref: ICD9:753.10 {source="DOID:0050778"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98978 {source="MONDO:equivalentTo"}
xref: OMIMPS:249000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:564 {source="MONDO:equivalentTo", source="DOID:0050778"}
xref: SCTID:204954005 {source="DOID:0050778"}
xref: SCTID:204966004 {source="DOID:0050778"}
xref: SCTID:236440007 {source="DOID:0050778"}
xref: SCTID:29076005 {source="MONDO:equivalentTo"}
xref: SCTID:82525005 {source="DOID:0050778"}
xref: UMLS:C0265215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120513"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98978"} ! syndromic disease
is_a: MONDO:0005308 {source="DOID:0050778", source="Wikipedia:Ciliopathy"} ! ciliopathy
is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:564"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015214 {source="Orphanet:564", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic visceral malformation
relationship: excluded_subClassOf MONDO:0015220 {source="MONDO:0017120-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with a central nervous system malformation as major feature
relationship: excluded_subClassOf MONDO:0015335 {source="Orphanet:564", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Mendelian syndromes with cleft lip/palate
relationship: excluded_subClassOf MONDO:0018731 {source="Orphanet:564", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lethal multiple congenital anomalies/dysmorphic syndrome
relationship: excluded_subClassOf MONDO:0019721 {source="Orphanet:564", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic renal or urinary tract malformation
relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:564", source="https://orcid.org/0000-0001-5208-3432"} ! familial cystic renal disease
relationship: excluded_subClassOf MONDO:0020229 {source="Orphanet:564", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cerebral disease with cataract
relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:564", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:249000"} ! inherited

[Term]
id: MONDO:0018922
name: cold agglutinin disease
def: "Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C)." [Orphanet:56425]
subset: gard_rare {source="GARD:6130", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:775"}
subset: ordo_disorder {source="Orphanet:56425"}
subset: orphanet_rare {source="Orphanet:56425"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, hemolytic, cold antibody" RELATED [GARD:0006130]
synonym: "CAD" EXACT ABBREVIATION [Orphanet:56425]
synonym: "CAS" EXACT ABBREVIATION [Orphanet:56425]
synonym: "chronic cold agglutinin disease" EXACT [Orphanet:56425]
synonym: "cold agglutinin syndrome" EXACT [Orphanet:56425]
synonym: "cold antibody disease" RELATED [GARD:0006130]
synonym: "cold antibody hemolytic anaemia" RELATED OMO:0003005 []
synonym: "cold antibody hemolytic anemia" RELATED [GARD:0006130]
xref: GARD:6130 {source="MONDO:GARD"}
xref: ICD10CM:D59.1 {source="Orphanet:56425/ntbt", source="Orphanet:56425"}
xref: MEDGEN:688249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200307 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200618 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:775 {source="MONDO:NORD"}
xref: Orphanet:56425 {source="MONDO:equivalentTo"}
xref: SCTID:127055007 {source="MONDO:equivalentTo"}
xref: UMLS:C1264008 {source="MONDO:equivalentTo", source="MEDGEN:688249", source="MONDO:MEDGEN"}
is_a: MONDO:0016450 {source="Orphanet:56425"} ! autoimmune hemolytic anemia, cold type

[Term]
id: MONDO:0018923
name: 22q11.2 deletion syndrome
def: "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." [Orphanet:567]
subset: gard_rare {source="GARD:10299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:567"}
subset: ordo_malformation_syndrome {source="Orphanet:567"}
subset: orphanet_rare {source="Orphanet:567"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "22q11DS" EXACT [Orphanet:567]
synonym: "catch 22" EXACT [Orphanet:567]
synonym: "Cayler cardiofacial syndrome" EXACT [Orphanet:567]
synonym: "conotruncal anomaly face syndrome" EXACT [Orphanet:567]
synonym: "DiGeorge sequence" NARROW [Orphanet:567]
synonym: "DiGeorge syndrome" NARROW [Orphanet:567]
synonym: "microdeletion 22q11.2" EXACT [Orphanet:567]
synonym: "monosomy 22q11" EXACT [Orphanet:567]
synonym: "Sedlackova syndrome" EXACT [Orphanet:567]
synonym: "Shprintzen syndrome" EXACT [Orphanet:567]
synonym: "Takao syndrome" EXACT [Orphanet:567]
synonym: "VCFS" RELATED ABBREVIATION [GARD:0010299]
synonym: "velocardiofacial syndrome" RELATED [Orphanet:567]
xref: DECIPHER:16 {source="MONDO:equivalentTo"}
xref: GARD:10299 {source="MONDO:GARD"}
xref: ICD10CM:D82.1 {source="Orphanet:567", source="Orphanet:567/e", source="Orphanet:567/specific"}
xref: icd11.foundation:1868156761 {source="Orphanet:567", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10012979 {source="Orphanet:567", source="Orphanet:567/e"}
xref: MedDRA:10066430 {source="Orphanet:567", source="Orphanet:567/e"}
xref: MESH:D058165 {source="Orphanet:567", source="Orphanet:567/e"}
xref: NANDO:1200339 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200688 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200712 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:567 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015160 {source="Orphanet:567"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0022760 {source="Orphanet:567"} ! chromosome 22q deletion
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr22q11.2 ! 22q11.2 (Human)
relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:567", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0018924
name: microphthalmia, Lenz type
def: "A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome." [Orphanet:568]
comment: Editors note: TODO check
subset: gard_rare {source="GARD:87", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1359"}
subset: ordo_disorder {source="Orphanet:568"}
subset: ordo_malformation_syndrome {source="Orphanet:568"}
subset: orphanet_rare {source="Orphanet:568"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lenz dysplasia" RELATED [GARD:0000087]
synonym: "Lenz microphthalmia" EXACT [Orphanet:568]
synonym: "Lenz Microphthalmia Syndrome" EXACT [NORD:1359]
synonym: "Lenz microphthamia syndrome" EXACT [PMID:31127942]
synonym: "MAA (formerly)" RELATED [GARD:0000087]
synonym: "MCOPS1" RELATED ABBREVIATION [GARD:0000087]
synonym: "microphthalmia Lenz type" RELATED [GARD:0000087]
synonym: "microphthalmia or anophthalmos with associated anomalies (formerly)" RELATED [GARD:0000087]
synonym: "microphthalmia syndromic 1" RELATED [GARD:0000087]
synonym: "syndromic microphthalmia type 1" RELATED [GARD:0000087]
xref: GARD:87 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:568", source="Orphanet:568/attributed", source="Orphanet:568/ntbt"}
xref: NORD:1359 {source="MONDO:NORD"}
xref: Orphanet:568 {source="GARD:0000087", source="MONDO:equivalentTo"}
is_a: MONDO:0016073 {source="Orphanet:568"} ! syndromic microphthalmia
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:568", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:568", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:568", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:568", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly
relationship: excluded_subClassOf MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/", source="https://orcid.org/0000-0001-5208-3432"} ! NAA10-related syndrome

[Term]
id: MONDO:0018925
name: familial or sporadic hemiplegic migraine
def: "Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)." [Orphanet:569]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10768", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1979", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:569"}
subset: orphanet_rare {source="Orphanet:569"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial or sporadic hemiplegic migraine" EXACT CLINGEN_LABEL []
synonym: "Hemiplegic Migraine" EXACT [NORD:1979]
synonym: "hemiplegic migraine" EXACT [MONDO:0023310]
xref: GARD:10768 {source="MONDO:GARD"}
xref: ICD10CM:G43.1 {source="Orphanet:569/inclusion", source="Orphanet:569/ntbt", source="Orphanet:569"}
xref: icd11.foundation:1957063016 {source="Orphanet:569", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:346.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: NORD:1979 {source="MONDO:NORD"}
xref: Orphanet:569 {source="MONDO:equivalentTo", source="GARD:0010768"}
xref: SCTID:59292006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005475 ! migraine with aura
relationship: excluded_subClassOf MONDO:0015642 {source="Orphanet:569", source="https://orcid.org/0000-0001-5208-3432"} ! benign partial infantile seizures
relationship: excluded_subClassOf MONDO:0015953 {source="Orphanet:569", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic central nervous system and retinal vascular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine" xsd:anyURI {source="GARD:0010768"}

[Term]
id: MONDO:0018926
name: human prion disease
def: "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." [Orphanet:56970]
subset: disease_grouping
subset: gard_rare {source="GARD:18851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:56970"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "transmissible spongiform encephalopathy" EXACT [Orphanet:56970]
synonym: "TSE" EXACT ABBREVIATION [Orphanet:56970]
xref: GARD:18851 {source="MONDO:GARD"}
xref: ICD10CM:A81.0 {source="Orphanet:56970/btnt", source="Orphanet:56970"}
xref: ICD10CM:A81.1 {source="MONDO:relatedTo", source="Orphanet:56970/btnt", source="Orphanet:56970"}
xref: ICD10CM:A81.8 {source="Orphanet:56970/btnt", source="Orphanet:56970"}
xref: ICD10CM:A81.9 {source="Orphanet:56970/btnt", source="Orphanet:56970"}
xref: Orphanet:56970 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="https://github.com/monarch-initiative/mondo/issues/1404", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-2825-0621"} ! infectious disease
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-2825-0621"} ! neurodegenerative disease

[Term]
id: MONDO:0018927
name: SUNCT syndrome
def: "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." [Orphanet:57145]
subset: gard_rare {source="GARD:9257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:57145"}
subset: orphanet_rare {source="Orphanet:57145"}
subset: rare
synonym: "short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing" EXACT [Orphanet:57145]
synonym: "short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing" EXACT [GARD:0009257]
synonym: "SUNCT headache" EXACT [GARD:0009257]
xref: GARD:9257 {source="MONDO:GARD"}
xref: ICD10CM:G44.8 {source="Orphanet:57145/ntbt", source="Orphanet:57145"}
xref: MedDRA:10061981 {source="Orphanet:57145/e", source="Orphanet:57145"}
xref: MEDGEN:224724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050798 {source="Orphanet:57145/e", source="MONDO:equivalentTo", source="Orphanet:57145"}
xref: NCIT:C85174 {source="MONDO:equivalentTo"}
xref: Orphanet:57145 {source="MONDO:equivalentTo"}
xref: SCTID:725058003 {source="MONDO:equivalentTo"}
xref: UMLS:C1262087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224724"}
is_a: MONDO:0002254 {source="NCIT:C85174"} ! syndromic disease
is_a: MONDO:0015530 {source="MESH:D050798", source="Orphanet:57145"} ! trigeminal autonomic cephalalgia

[Term]
id: MONDO:0018928
name: obsolete rare hepatic disease
def: "OBSOLETE. Rare liver disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:57146"}
synonym: "rare liver disease" EXACT [MONDO:patterns/rare]
xref: GARD:22506 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:57146 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005154

[Term]
id: MONDO:0018929
name: medial condensing osteitis of the clavicle
subset: gard_rare {source="GARD:10910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:57196"}
subset: orphanet_rare {source="Orphanet:57196"}
subset: rare
synonym: "condensing osteitis of the clavicle" EXACT [GARD:0010910]
synonym: "condensing osteitis of the medial clavicle" EXACT [GARD:0010910]
synonym: "osteitis condensans of the clavicle" EXACT [Orphanet:57196]
xref: GARD:10910 {source="MONDO:GARD"}
xref: ICD10CM:M85.3 {source="Orphanet:57196", source="Orphanet:57196/ntbt"}
xref: MEDGEN:1710994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:57196 {source="MONDO:equivalentTo"}
xref: UMLS:C5396729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710994"}
is_a: MONDO:0018381 {source="Orphanet:57196"} ! osteochondrosis

[Term]
id: MONDO:0018930
name: monosomy 21
def: "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." [Orphanet:574]
subset: gard_rare {source="GARD:10860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:574"}
subset: ordo_malformation_syndrome {source="Orphanet:574"}
subset: orphanet_rare {source="Orphanet:574"}
subset: rare
synonym: "21q deletion" RELATED [GARD:0010860]
synonym: "21q deletion syndrome" EXACT [Orphanet:574]
synonym: "21q monosomy" RELATED [GARD:0010860]
synonym: "21q- syndrome" EXACT [Orphanet:574]
synonym: "chromosome 21q deletion" RELATED [GARD:0010860]
synonym: "deletion 21q" RELATED [GARD:0010860]
synonym: "monosomy 21q" RELATED [GARD:0010860]
synonym: "monosomy type 21" EXACT [MONDORULE:2, Orphanet:574]
synonym: "partial 21q monosomy" EXACT [Orphanet:574]
synonym: "partial monosomy 21q" RELATED [GARD:0010860]
xref: GARD:10860 {source="MONDO:GARD"}
xref: ICD10CM:Q93.0 {source="Orphanet:574/attributed", source="Orphanet:574/ntbt", source="Orphanet:574"}
xref: MEDGEN:162883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537108 {source="MONDO:equivalentTo"}
xref: NCIT:C36469 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"}
xref: Orphanet:574 {source="MONDO:equivalentTo"}
xref: UMLS:C0795875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162883"}
is_a: MONDO:0019040 ! chromosomal disorder
relationship: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:574", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract

[Term]
id: MONDO:0018931
name: mucolipidosis type III, alpha/beta
def: "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." [Orphanet:423461, PMID:6461005]
subset: gard_rare {source="GARD:17704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1624"}
subset: ordo_disorder {source="Orphanet:577"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:423461"}
subset: orphanet_rare {source="Orphanet:577"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ML 3" BROAD [OMIM:252600]
synonym: "ML 3 A" RELATED [GARD:0003806]
synonym: "ML 3 Alpha/Beta" RELATED [OMIM:252600]
synonym: "ML 3 alpha/beta" EXACT [Orphanet:423461]
synonym: "ML III alpha/beta" EXACT [Orphanet:423461]
synonym: "ML3" BROAD ABBREVIATION [GARD:0003806]
synonym: "MLIII" EXACT ABBREVIATION []
synonym: "mucolipidosis 3" BROAD [OMIM:252600]
synonym: "mucolipidosis 3 Alpha/Beta" RELATED [OMIM:252600]
synonym: "mucolipidosis 3 Alpha/Beta, atypical" RELATED [OMIM:252600]
synonym: "mucolipidosis 3A" RELATED [OMIM:252600]
synonym: "mucolipidosis III" BROAD [DOID:0080071]
synonym: "mucolipidosis III ALPHA/BETA" RELATED [OMIM:252600]
synonym: "mucolipidosis type 3 alpha/beta" EXACT [Orphanet:423461]
synonym: "mucolipidosis type 3A" RELATED [GARD:0003806]
synonym: "mucolipidosis type III" EXACT [Orphanet:577]
synonym: "mucolipidosis type III alpha/beta" RELATED [Orphanet:423461]
synonym: "Pseudo Hurler Polydystrophy" EXACT [NORD:1624]
synonym: "pseudo-Hurler polydystrophy" EXACT [GARD:0003806, OMIM:252600, Orphanet:577]
xref: DOID:0080071 {source="MONDO:equivalentTo"}
xref: GARD:17704 {source="MONDO:GARD"}
xref: ICD10CM:E77.0 {source="Orphanet:577", source="Orphanet:577/ntbt", source="Orphanet:423461/attributed", source="Orphanet:423461/ntbt", source="Orphanet:423461", source="Orphanet:577/inclusion"}
xref: MEDGEN:10988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200125 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200568 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1624 {source="MONDO:NORD"}
xref: OMIM:252600 {source="Orphanet:577", source="Orphanet:577/btnt", source="MONDO:equivalentTo", source="DOID:0080071", source="GARD:0003806", source="Orphanet:423461"}
xref: Orphanet:423461 {source="MONDO:equivalentTo", source="OMIM:252600"}
xref: Orphanet:577 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="GARD:0003806", source="OMIM:252600"}
xref: SCTID:65764006 {source="MONDO:equivalentTo"}
xref: UMLS:C0033788 {source="MEDGEN:10988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019248 {source="Orphanet:577"} ! mucolipidosis
is_a: MONDO:0031422 {source="OMIM:252600"} ! familial mucolipidosis
is_a: MONDO:0100122 {source="PMID:20301728", source="PMID:32651481"} ! GNPTAB-mucolipidosis
is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: excluded_subClassOf MONDO:0005381 {source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29670 {source="MONDO:mim2gene_medgen"} ! GNPTAB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta" xsd:anyURI {source="GARD:0003806"}

[Term]
id: MONDO:0018932
name: cirrhotic cardiomyopathy
def: "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes." [Orphanet:57777]
subset: gard_rare {source="GARD:18852", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:57777"}
subset: orphanet_rare {source="Orphanet:57777"}
subset: rare
xref: GARD:18852 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:57777", source="Orphanet:57777/ntbt"}
xref: MEDGEN:1391593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:57777 {source="MONDO:equivalentTo"}
xref: SCTID:725416005 {source="MONDO:equivalentTo"}
xref: UMLS:C4511053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1391593"}
is_a: MONDO:0016330 {source="Orphanet:57777"} ! non-familial hypertrophic cardiomyopathy
is_a: MONDO:0016338 {source="Orphanet:57777"} ! non-familial dilated cardiomyopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare

[Term]
id: MONDO:0018933
name: Mazabraud syndrome
def: "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occurring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." [Orphanet:57782]
subset: gard_rare {source="GARD:18853", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:57782"}
subset: ordo_malformation_syndrome {source="Orphanet:57782"}
subset: orphanet_rare {source="Orphanet:57782"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Myxoma with fibrous dysplasia" EXACT [Orphanet:57782]
xref: GARD:18853 {source="MONDO:GARD"}
xref: ICD10CM:M85.0 {source="Orphanet:57782", source="Orphanet:57782/attributed", source="Orphanet:57782/ntbt"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:784403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:57782 {source="MONDO:equivalentTo"}
xref: SCTID:699251001 {source="MONDO:equivalentTo"}
xref: UMLS:C3697137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:784403"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0006424 {source="Orphanet:57782"} ! soft tissue neoplasm
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:57782", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018934
name: obsolete mucopolysaccharidosis type 1
is_obsolete: true
replaced_by: MONDO:0001586

[Term]
id: MONDO:0018935
name: hairy cell leukemia
def: "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." [Orphanet:58017]
subset: gard_rare {source="GARD:6560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1213"}
subset: ordo_disorder {source="Orphanet:58017"}
subset: orphanet_rare {source="Orphanet:58017"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic hairy cell leukaemia" RELATED OMO:0003005 []
synonym: "classic hairy cell leukemia" RELATED [Orphanet:58017]
synonym: "hairy cell leukemia" EXACT [MONDO:0006776, NCIT:C7402]
synonym: "HCL" EXACT ABBREVIATION [NCIT:C7402, ONCOTREE:HCL, Orphanet:58017]
synonym: "HCL-C" EXACT [Orphanet:58017]
synonym: "leukemic reticuloendotheliosis" EXACT [NCIT:C7402, Orphanet:58017]
xref: DOID:285 {source="MONDO:equivalentTo", source="EFO:1000956"}
xref: EFO:1000956 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6560 {source="MONDO:GARD"}
xref: ICD10CM:C91.4 {source="Orphanet:58017/ntbt", source="DOID:285", source="Orphanet:58017", source="EFO:1000956"}
xref: ICD10CM:C91.40 {source="DOID:285"}
xref: icd11.foundation:82152208 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:58017"}
xref: ICD9:202.4 {source="DOID:285"}
xref: ICDO:9940/3 {source="NCIT:C7402"}
xref: MedDRA:10019053 {source="Orphanet:58017/e", source="Orphanet:58017"}
xref: MedDRA:10019055 {source="EFO:1000956"}
xref: MEDGEN:9727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007943 {source="Orphanet:58017/e", source="MONDO:equivalentTo", source="DOID:285", source="Orphanet:58017", source="EFO:1000956"}
xref: NCIT:C7402 {source="MONDO:equivalentTo", source="DOID:285", source="EFO:1000956"}
xref: NORD:1213 {source="MONDO:NORD"}
xref: ONCOTREE:HCL {source="MONDO:equivalentTo"}
xref: Orphanet:58017 {source="MONDO:equivalentTo"}
xref: SCTID:118613001 {source="MONDO:equivalentTo", source="DOID:285"}
xref: SCTID:188644003 {source="DOID:285"}
xref: SCTID:188653005 {source="DOID:285"}
xref: SCTID:190066005 {source="DOID:285"}
xref: SCTID:54087003 {source="DOID:285", source="EFO:1000956"}
xref: SCTID:85228003 {source="DOID:285"}
xref: UMLS:C0023443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9727"}
is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C7402"} ! chronic leukemia
is_a: MONDO:0004948 {source="DOID:285", source="EFO:1000956"} ! B-cell chronic lymphocytic leukemia
is_a: MONDO:0004949 {source="EFO:1000956/inferred", source="MONDO:Redundant", source="NCIT:C7402", source="ONCOTREE:HCL"} ! neoplasm of mature B-cells
is_a: MONDO:0005402 {source="MONDO:Redundant", source="NCIT:C7402"} ! lymphoid leukemia
is_a: MONDO:0017594 {source="MONDO:Redundant", source="Orphanet:58017"} ! indolent B-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0018936
name: osteoblastoma
def: "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." [NCIT:P378]
subset: gard_rare {source="GARD:18854", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:58040"}
subset: orphanet_rare {source="Orphanet:58040"}
subset: rare
synonym: "giant osteoid osteoma" EXACT [NCIT:C3294]
synonym: "ossifying giant cell tumor" EXACT [NCIT:C3294]
synonym: "ossifying giant cell tumour" EXACT OMO:0003005 []
synonym: "osteoblastoma" EXACT [MONDO:ambiguous, NCIT:C3294]
synonym: "osteoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "osteoblastoma, benign" EXACT [NCIT:C3294]
xref: DOID:0060098 {source="MONDO:equivalentTo"}
xref: GARD:18854 {source="MONDO:GARD"}
xref: HP:0011846 {source="MONDO:otherHierarchy"}
xref: ICD10CM:D16.0 {source="Orphanet:58040/btnt", source="Orphanet:58040"}
xref: ICD10CM:D16.1 {source="Orphanet:58040/btnt", source="Orphanet:58040"}
xref: ICD10CM:D16.3 {source="Orphanet:58040/btnt", source="Orphanet:58040"}
xref: ICD10CM:D16.4 {source="Orphanet:58040/btnt", source="Orphanet:58040"}
xref: ICD10CM:D16.5 {source="Orphanet:58040/btnt", source="MONDO:relatedTo", source="Orphanet:58040"}
xref: ICD10CM:D16.6 {source="Orphanet:58040/btnt", source="Orphanet:58040"}
xref: ICD10CM:D16.7 {source="Orphanet:58040/btnt", source="Orphanet:58040"}
xref: ICD10CM:D16.8 {source="Orphanet:58040/btnt", source="Orphanet:58040"}
xref: icd11.foundation:1948326341 {source="Orphanet:58040", source="MONDO:equivalentTo"}
xref: ICDO:9200/0 {source="NCIT:C3294"}
xref: MedDRA:10004430 {source="Orphanet:58040", source="Orphanet:58040/e"}
xref: MEDGEN:18212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018215 {source="Orphanet:58040", source="MONDO:equivalentTo", source="Orphanet:58040/e"}
xref: NCIT:C3294 {source="MONDO:equivalentTo"}
xref: Orphanet:58040 {source="MONDO:equivalentTo"}
xref: UMLS:C0029417 {source="MEDGEN:18212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000631 {source="DOID:0060098", source="NCIT:C3294"} ! bone benign neoplasm
is_a: MONDO:0019060 {source="NCIT:C3294/inferred", source="Orphanet:58040"} ! bone neoplasm
property_value: IAO:0000589 "osteoblastoma (disease)" xsd:string

[Term]
id: MONDO:0018937
name: mucopolysaccharidosis type 3
def: "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration." [Orphanet:581]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:3807", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1463"}
subset: ordo_disorder {source="Orphanet:581"}
subset: orphanet_rare {source="Orphanet:581"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "heparan sulfate sulfatase deficiency" EXACT [DOID:12801]
synonym: "heparan sulphate sulfatase deficiency" EXACT OMO:0003005 []
synonym: "MPS IIIA - Sanfilippo syndrome A" NARROW [DOID:12801]
synonym: "MPS IIIB - Sanfilippo syndrome B" NARROW [DOID:12801]
synonym: "MPS IIIC - Sanfilippo syndrome C" NARROW [DOID:12801]
synonym: "MPS IIID - Sanfilippo syndrome D" NARROW [DOID:12801]
synonym: "MPS3" EXACT ABBREVIATION [Orphanet:581]
synonym: "MPSIII" EXACT ABBREVIATION [Orphanet:581]
synonym: "Mucopoly-saccharidosis type 3" RELATED [GARD:0003807]
synonym: "mucopolysaccharidosis III" RELATED [DOID:12801]
synonym: "Mucopolysaccharidosis Type III" EXACT [NORD:1463]
synonym: "mucopolysaccharidosis type III" EXACT [DOID:12801, MONDORULE:3, Orphanet:581]
synonym: "mucopolysaccharidosis type IIIA" NARROW [DOID:12801]
synonym: "mucopolysaccharidosis type IIIB" NARROW [DOID:12801]
synonym: "mucopolysaccharidosis, MPS-III" EXACT [DOID:12801]
synonym: "mucopolysaccharidosis, MPS-III-B" NARROW [DOID:12801]
synonym: "N-acetyl-alpha-D-glucosaminidase deficiency" NARROW [DOID:12801]
synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT [DOID:12801]
synonym: "NAGLU deficiency" NARROW [DOID:12801]
synonym: "Sanfilippo disease" EXACT [Orphanet:581]
synonym: "Sanfilippo syndrome" EXACT [NCIT:C61262]
synonym: "Sanfilippo syndrome A" NARROW [DOID:12801]
synonym: "Sanfilippo syndrome B" NARROW [DOID:12801]
synonym: "Sanfilippo's syndrome" EXACT [DOID:12801]
xref: DOID:12801 {source="MONDO:equivalentTo"}
xref: GARD:3807 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:581/inclusion", source="Orphanet:581/ntbt", source="Orphanet:581"}
xref: ICD10CM:E76.22 {source="DOID:12801"}
xref: MedDRA:10056890 {source="Orphanet:581/e", source="Orphanet:581"}
xref: MEDGEN:6452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009084 {source="Orphanet:581/e", source="DOID:12801", source="Orphanet:581"}
xref: NANDO:1200100 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200549 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61262 {source="DOID:12801", source="MONDO:equivalentTo"}
xref: NCIT:C84897 {source="DOID:12801"}
xref: NCIT:C84898 {source="DOID:12801"}
xref: NORD:1463 {source="MONDO:NORD"}
xref: Orphanet:581 {source="DOID:12801", source="MONDO:equivalentTo"}
xref: SCTID:190936000 {source="DOID:12801"}
xref: SCTID:254070003 {source="DOID:12801"}
xref: SCTID:254071004 {source="DOID:12801"}
xref: SCTID:41572006 {source="DOID:12801"}
xref: SCTID:59990008 {source="DOID:12801"}
xref: SCTID:88393000 {source="DOID:12801", source="MONDO:equivalentTo"}
xref: UMLS:C0026706 {source="MEDGEN:6452", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C61262"} ! syndromic disease
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0019249 {source="DOID:12801", source="NCIT:C61262", source="Orphanet:581"} ! mucopolysaccharidosis
relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0018938
name: mucopolysaccharidosis type 4
def: "A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." [Orphanet:582]
subset: gard_rare {source="GARD:12562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1455"}
subset: ordo_disorder {source="Orphanet:582"}
subset: orphanet_rare {source="Orphanet:582"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondroosteodystrophy" NARROW [DOID:12804]
synonym: "deficiency of chondroitinsulphatase" EXACT [DOID:12804]
synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" NARROW [DOID:12804]
synonym: "eccentro-osteochondrodysplasia" EXACT [MESH:D009085]
synonym: "eccentrochondrodysplasia" EXACT [MONDO:0023038]
synonym: "eccentroosteochondrodysplasia" EXACT [MESH:D009085]
synonym: "galactosamine-6-sulfatase deficiency" NARROW [DOID:12804]
synonym: "Morquio A disease" NARROW [DOID:12804]
synonym: "Morquio disease" EXACT [Orphanet:582]
synonym: "Morquio syndrome" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C61263]
synonym: "Morquio syndrome A" NARROW [DOID:12804]
synonym: "MPS IV - Morquio syndrome A" NARROW [DOID:12804]
synonym: "MPS IV - Morquio syndrome B" NARROW [DOID:12804]
synonym: "MPS4" EXACT ABBREVIATION [Orphanet:582]
synonym: "MPSIV" EXACT ABBREVIATION [Orphanet:582]
synonym: "Mucopolysaccharidosis IV" EXACT [NORD:1455]
synonym: "mucopolysaccharidosis IV" EXACT [NCIT:C61263]
synonym: "mucopolysaccharidosis type 4" EXACT [DOID:12804, MONDO:0001587]
synonym: "mucopolysaccharidosis type IV" EXACT [DOID:12804, MONDORULE:3, NCIT:C61263, Orphanet:582]
synonym: "mucopolysaccharidosis type IVA" NARROW [DOID:12804]
synonym: "mucopolysaccharidosis type IVB" NARROW [DOID:12804]
synonym: "mucopolysaccharidosis, MPS-IV" EXACT [DOID:12804]
synonym: "mucopolysaccharidosis, MPS-IV-A" NARROW [DOID:12804]
synonym: "osteochondrodystrophy" NARROW [DOID:12804]
xref: DOID:12804 {source="MONDO:equivalentTo"}
xref: GARD:12562 {source="MONDO:GARD"}
xref: ICD10CM:E76.2 {source="Orphanet:582/inclusion", source="Orphanet:582", source="Orphanet:582/ntbt"}
xref: ICD10CM:E76.210 {source="DOID:12804"}
xref: ICD10CM:E76.219 {source="DOID:12804"}
xref: icd11.foundation:2078241550 {source="MONDO:equivalentTo", source="Orphanet:582"}
xref: MedDRA:10028095 {source="Orphanet:582/e", source="Orphanet:582"}
xref: MEDGEN:44513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009085 {source="Orphanet:582/e", source="DOID:12804", source="Orphanet:582"}
xref: NANDO:1200105 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200550 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61263 {source="MONDO:equivalentTo", source="DOID:12804"}
xref: NCIT:C84901 {source="DOID:12804"}
xref: NORD:1455 {source="MONDO:NORD"}
xref: Orphanet:582 {source="MONDO:equivalentTo"}
xref: SCTID:124449003 {source="DOID:12804"}
xref: SCTID:130197005 {source="DOID:12804"}
xref: SCTID:190936000 {source="DOID:12804"}
xref: SCTID:254074007 {source="DOID:12804"}
xref: SCTID:378007 {source="MONDO:equivalentTo", source="DOID:12804"}
xref: SCTID:7259005 {source="DOID:12804"}
xref: SCTID:78856008 {source="DOID:12804"}
xref: UMLS:C0026707 {source="MEDGEN:44513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C61263", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0002561 {source="DOID:12804/inferred", source="NCIT:C61263/inferred", source="Orphanet:582/inferred", source="PMID:21723623"} ! lysosomal storage disease
is_a: MONDO:0019249 {source="DOID:12804", source="NCIT:C61263", source="Orphanet:582"} ! mucopolysaccharidosis
relationship: disease_has_basis_in_dysfunction_of GO:0005764 {source="https://orcid.org/0000-0001-5208-3432"} ! lysosome
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0005381 {source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder
relationship: has_characteristic MONDO:0021136 {source="https://orcid.org/0000-0001-5208-3432"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7206" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia" xsd:anyURI {source="GARD:0006314"}

[Term]
id: MONDO:0018939
name: muscle-eye-brain disease
def: "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported." [Orphanet:588]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:156", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:588"}
subset: orphanet_rare {source="Orphanet:588"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEB" RELATED ABBREVIATION [GARD:0000156]
synonym: "MEB syndrome" EXACT [Orphanet:588]
synonym: "muscle eye brain disease" RELATED [GARD:0000156]
synonym: "muscle-eye-brain syndrome" EXACT [Orphanet:588]
synonym: "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3" NARROW [GARD:0000156]
synonym: "Santavuori congenital muscular dystrophy" EXACT [Orphanet:588]
xref: GARD:156 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:588", source="Orphanet:588/attributed", source="Orphanet:588/ntbt"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:105341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:588 {source="MONDO:equivalentTo"}
xref: SCTID:277950001 {source="MONDO:equivalentTo"}
xref: UMLS:C0457133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105341"}
is_a: MONDO:0019950 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital muscular dystrophy
relationship: excluded_subClassOf MONDO:0015327 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental anomaly of metabolic origin
relationship: excluded_subClassOf MONDO:0016185 {source="Orphanet:588", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2
relationship: excluded_subClassOf MONDO:0018276 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy
relationship: excluded_subClassOf MONDO:0018869 {source="https://orcid.org/0000-0001-5208-3432"} ! cobblestone lissencephaly
relationship: excluded_subClassOf MONDO:0700066 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy caused by variation in FKRP
relationship: excluded_subClassOf MONDO:0700068 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy caused by variation in POMGNT1
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease" xsd:anyURI {source="GARD:0000156"}

[Term]
id: MONDO:0018940
name: congenital myasthenic syndrome
def: "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." [Orphanet:590]
subset: gard_rare {source="GARD:11902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1893"}
subset: ordo_disorder {source="Orphanet:590"}
subset: orphanet_rare {source="Orphanet:590"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMS" EXACT ABBREVIATION [Orphanet:590]
synonym: "congenital MG" RELATED [GARD:0000098]
synonym: "congenital myasthenia" RELATED [GARD:0011902]
synonym: "Congenital Myasthenic Syndromes" EXACT [NORD:1893]
synonym: "erb-Goldflam syndrome" RELATED [GARD:0000098]
synonym: "familial limb-girdle myasthenia" RELATED [DOID:3635]
synonym: "myasthenia gravis congenital" RELATED [GARD:0000098]
synonym: "myasthenia gravis pseudoparalytica" RELATED [GARD:0000098]
synonym: "myasthenic syndrome, congenital" EXACT [OMIMPS:601462]
xref: DOID:3635 {source="MONDO:equivalentTo"}
xref: GARD:11902 {source="MONDO:GARD"}
xref: ICD10CM:G70.2 {source="Orphanet:590/specific", source="Orphanet:590", source="Orphanet:590/e"}
xref: icd11.foundation:1515367530 {source="MONDO:equivalentTo", source="Orphanet:590", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:358.00 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:V17.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:155650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020294 {source="MONDO:equivalentTo", source="DOID:3635", source="Orphanet:590", source="Orphanet:590/e"}
xref: NANDO:1200021 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84647 {source="MONDO:equivalentTo", source="DOID:3635"}
xref: NORD:1893 {source="MONDO:NORD"}
xref: OMIMPS:601462 {source="MONDO:equivalentTo", source="DOID:3635"}
xref: Orphanet:590 {source="MONDO:equivalentTo", source="DOID:3635"}
xref: SCTID:230672006 {source="MONDO:equivalentTo", source="DOID:3635"}
xref: UMLS:C0751882 {source="MEDGEN:155650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84647", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020124 {source="DOID:3635", source="MESH:D020294", source="MONDO:Redundant", source="Orphanet:590", source="Orphanet:590/inferred"} ! neuromuscular junction disease
relationship: disease_has_basis_in_dysfunction_of GO:0031594 ! neuromuscular junction
relationship: disease_has_feature HP:0003473 ! Fatigable weakness
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0020260 {source="Orphanet:590", source="https://github.com/Orphanet/ORDO/issues/17", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete myasthenic syndrome with eye involvement
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601462"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome" xsd:anyURI {source="GARD:0011902"}

[Term]
id: MONDO:0018941
name: furuncular myiasis
def: "Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis)." [Orphanet:591]
subset: gard_rare {source="GARD:2418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:591"}
subset: orphanet_rare {source="Orphanet:591"}
subset: rare
synonym: "furunculoid myiasis" EXACT [Orphanet:591]
synonym: "furunculous myiasis" EXACT [Orphanet:591]
xref: GARD:2418 {source="MONDO:GARD"}
xref: ICD10CM:B87.0 {source="Orphanet:591", source="Orphanet:591/ntbt"}
xref: MEDGEN:419893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538194 {source="MONDO:equivalentTo"}
xref: Orphanet:591 {source="MONDO:equivalentTo"}
xref: UMLS:C2931766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419893"}
is_a: MONDO:0020568 {source="Orphanet:591"} ! cutaneous myiasis

[Term]
id: MONDO:0018942
name: macrophagic myofasciitis
subset: gard_rare {source="GARD:176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:592"}
subset: orphanet_rare {source="Orphanet:592"}
subset: rare
synonym: "Macrophagic myofasciitis, childhood" RELATED [GARD:0000176]
synonym: "MMF" EXACT ABBREVIATION [Orphanet:592]
xref: GARD:176 {source="MONDO:GARD"}
xref: ICD10CM:M60.8 {source="Orphanet:592/ntbt", source="Orphanet:592"}
xref: MEDGEN:419858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537829 {source="Orphanet:592/e", source="MONDO:equivalentTo", source="Orphanet:592"}
xref: Orphanet:592 {source="MONDO:equivalentTo"}
xref: SCTID:718175009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931639 {source="MEDGEN:419858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016105 {source="Orphanet:592"} ! acquired skeletal muscle disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis" xsd:anyURI {source="GARD:0000176"}

[Term]
id: MONDO:0018943
name: myofibrillar myopathy
def: "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients." [Orphanet:593]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:10529", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:593"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alpha Beta crystallinopathy (type)" RELATED [GARD:0010529]
synonym: "desmin related myopathy (former name)" RELATED [GARD:0010529]
synonym: "desmin storage myopathy (former name)" RELATED [GARD:0010529]
synonym: "Desminopathy (type)" RELATED [GARD:0010529]
synonym: "filaminopathy (type)" RELATED [GARD:0010529]
synonym: "myofibrillar myopathies" RELATED [MESH:C580316]
synonym: "myofibrillar myopathy" EXACT CLINGEN_LABEL [MONDO:ambiguous, OMIMPS:601419]
synonym: "myofibrillar myopathy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "myotilinopathy (type)" RELATED [GARD:0010529]
synonym: "Protein surplus myopathy (former name)" RELATED [GARD:0010529]
synonym: "Zaspopathy (type)" RELATED [GARD:0010529]
xref: DOID:0080307 {source="MONDO:equivalentTo"}
xref: GARD:10529 {source="MONDO:GARD"}
xref: HP:0003715 {source="MONDO:otherHierarchy"}
xref: ICD10CM:G71.8 {source="Orphanet:593", source="Orphanet:593/attributed", source="Orphanet:593/ntbt"}
xref: icd11.foundation:125656853 {source="MONDO:equivalentTo", source="Orphanet:593"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:395532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580316 {source="MONDO:equivalentTo"}
xref: NCIT:C83009 {source="MONDO:equivalentTo"}
xref: OMIMPS:601419 {source="MONDO:equivalentTo", source="DOID:0080307"}
xref: Orphanet:593 {source="MONDO:equivalentTo"}
xref: SCTID:699269005 {source="MONDO:equivalentTo"}
xref: UMLS:C2678065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395532"}
is_a: MONDO:0002921 {source="MESH:C580316"} ! congenital structural myopathy
is_a: MONDO:0005336 {source="DOID:0080307", source="MONDO:Redundant", source="NCIT:C83009"} ! myopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601419"} ! inherited
property_value: IAO:0000589 "myofibrillar myopathy (disease)" xsd:string

[Term]
id: MONDO:0018944
name: gestational trophoblastic neoplasm
def: "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor." [NCIT:C4699]
subset: disease_grouping
subset: gard_rare {source="GARD:6498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:59305"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gestational trophoblastic disease" BROAD [NCIT:C4699]
synonym: "gestational trophoblastic neoplasia" EXACT [DOID:3590, NCIT:C4699]
synonym: "gestational trophoblastic tumor" EXACT [NCIT:C4699]
synonym: "gestational trophoblastic tumour" EXACT OMO:0003005 []
synonym: "GTN" EXACT ABBREVIATION [Orphanet:59305]
synonym: "GTT" EXACT ABBREVIATION [NCIT:C4699]
synonym: "hydatidiform mole" RELATED [DOID:3590]
synonym: "molar pregnancy" RELATED [DOID:3590, NCIT:C3110]
xref: DOID:3590 {source="MONDO:equivalentTo"}
xref: GARD:6498 {source="MONDO:GARD"}
xref: ICD10CM:O01 {source="DOID:3590"}
xref: ICD10CM:O01.0 {source="DOID:3590"}
xref: ICD10CM:O01.9 {source="DOID:3590"}
xref: icd11.foundation:1972855304 {source="Orphanet:59305", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:630 {source="DOID:3590"}
xref: MedDRA:10061988 {source="Orphanet:59305", source="Orphanet:59305/e"}
xref: MEDGEN:210107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006828 {source="DOID:3590", source="MONDO:directSiblingOf"}
xref: MESH:D031901 {source="Orphanet:59305", source="Orphanet:59305/e", source="DOID:3590"}
xref: NCIT:C3110 {source="DOID:3590", source="MONDO:directSiblingOf"}
xref: NCIT:C4699 {source="MONDO:equivalentTo", source="DOID:3590"}
xref: NCIT:C7887 {source="DOID:3590"}
xref: Orphanet:59305 {source="MONDO:equivalentTo"}
xref: SCTID:123300001 {source="DOID:3590"}
xref: SCTID:156085008 {source="DOID:3590"}
xref: SCTID:189856005 {source="DOID:3590"}
xref: SCTID:198610008 {source="DOID:3590"}
xref: SCTID:198611007 {source="DOID:3590"}
xref: SCTID:235323008 {source="DOID:3590"}
xref: SCTID:236118006 {source="DOID:3590"}
xref: SCTID:237251001 {source="DOID:3590"}
xref: SCTID:367455000 {source="DOID:3590"}
xref: SCTID:41491009 {source="DOID:3590"}
xref: SCTID:416441004 {source="DOID:3590"}
xref: SCTID:417044008 {source="DOID:3590"}
xref: SCTID:417475006 {source="DOID:3590"}
xref: SCTID:44782008 {source="DOID:3590", source="MONDO:directSiblingOf"}
xref: SCTID:48430004 {source="DOID:3590"}
xref: SCTID:609517002 {source="DOID:3590"}
xref: SCTID:609519004 {source="MONDO:equivalentTo", source="DOID:3590"}
xref: UMLS:C1135868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:210107"}
is_a: MONDO:0002872 {source="DOID:3590", source="NCIT:C4699"} ! trophoblastic neoplasm
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4699"} ! female reproductive system neoplasm
is_a: MONDO:0024575 {source="NCIT:C4699"} ! pregnancy disorder

[Term]
id: MONDO:0018945
name: McLeod neuroacanthocytosis syndrome
def: "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." [Orphanet:59306]
subset: gard_rare {source="GARD:10731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:59306"}
subset: orphanet_rare {source="Orphanet:59306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCLDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300842]
synonym: "McLeod phenotype" RELATED [OMIM:300842]
synonym: "McLeod syndrome" EXACT [MONDO:0010445, MONDO:Lexical, OMIM:300842]
synonym: "McLeod syndrome with chronic granulomatous disease" RELATED [OMIM:300842]
synonym: "mcleod syndrome with or without chronic granulomatous disease" EXACT [OMIM:300842, OMIM:genemap2]
synonym: "MLS" EXACT ABBREVIATION [Orphanet:59306]
synonym: "neuroacanthocytosis, McLeod type" RELATED [OMIM:300842]
synonym: "X-linked McLeod syndrome" EXACT [Orphanet:59306]
xref: DOID:0112107 {source="MONDO:equivalentTo"}
xref: GARD:10731 {source="MONDO:GARD"}
xref: HGNC:12811 {source="GARD:0010731"}
xref: ICD10CM:G10 {source="Orphanet:59306", source="Orphanet:59306/attributed", source="Orphanet:59306/ntbt"}
xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564038 {source="MONDO:equivalentTo"}
xref: NANDO:1200015 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:300842 {source="Orphanet:59306", source="Orphanet:59306/ntbt", source="MONDO:equivalentTo"}
xref: Orphanet:59306 {source="MONDO:equivalentTo", source="OMIM:300842"}
xref: SCTID:234411007 {source="MONDO:equivalentTo"}
xref: UMLS:C0398568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140765"}
is_a: MONDO:0016987 {source="Orphanet:59306"} ! neuroacanthocytosis
relationship: excluded_subClassOf MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
relationship: excluded_subClassOf MONDO:0003689 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hemolytic anemia
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:59306", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12811 {source="MONDO:mim2gene_medgen"} ! XK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome" xsd:anyURI {source="GARD:0010731"}

[Term]
id: MONDO:0018946
name: rhombencephalosynapsis
def: "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." [Orphanet:59315]
subset: gard_rare {source="GARD:18855", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:59315"}
subset: ordo_malformation_syndrome {source="Orphanet:59315"}
subset: orphanet_rare {source="Orphanet:59315"}
subset: rare
xref: GARD:18855 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:59315/ntbt", source="Orphanet:59315"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:356456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:59315 {source="MONDO:equivalentTo"}
xref: SCTID:442300000 {source="MONDO:equivalentTo"}
xref: UMLS:C1866130 {source="MONDO:equivalentTo", source="MEDGEN:356456", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0018947
name: centronuclear myopathy
def: "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." [Orphanet:595]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:101", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:909"}
subset: ordo_group_of_disorders {source="Orphanet:595"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "centronuclear myopathy" EXACT CLINGEN_LABEL []
synonym: "CNM" EXACT ABBREVIATION [Orphanet:595]
synonym: "myopathy, centronuclear" EXACT [OMIMPS:160150]
synonym: "myopathy, myotubular" RELATED [GARD:0000101]
synonym: "myotubular myopathy" EXACT [DOID:14717]
xref: DOID:14717 {source="MONDO:equivalentTo"}
xref: GARD:101 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:595/ntbt", source="Orphanet:595/inclusion", source="Orphanet:595"}
xref: icd11.foundation:742097637 {source="MONDO:equivalentTo", source="Orphanet:595"}
xref: MEDGEN:104495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020914 {source="MONDO:relatedTo", source="DOID:14717"}
xref: NANDO:1200481 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200482 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200867 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84648 {source="MONDO:relatedTo", source="DOID:14717"}
xref: NORD:909 {source="MONDO:NORD"}
xref: OMIMPS:160150 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:595 {source="DOID:14717", source="MONDO:equivalentTo"}
xref: Orphanet:596 {source="DOID:14717"}
xref: Orphanet:69186 {source="DOID:14717"}
xref: Orphanet:69189 {source="DOID:14717"}
xref: SCTID:193223007 {source="DOID:14717"}
xref: SCTID:82077006 {source="DOID:14717", source="MONDO:equivalentTo"}
xref: UMLS:C0175709 {source="MEDGEN:104495", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="Orphanet:595"} ! congenital myopathy
relationship: excluded_subClassOf MONDO:0020169 {source="Orphanet:595", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare disorder with ptosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:160150"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy" xsd:anyURI {source="GARD:0000101"}

[Term]
id: MONDO:0018948
name: multiminicore myopathy
def: "A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy." [https://orcid.org/0000-0001-5208-3432, Orphanet:598]
subset: gard_rare {source="GARD:16536", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:598"}
subset: orphanet_rare {source="Orphanet:598"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MmD" EXACT [Orphanet:598]
synonym: "multicore disease" EXACT [GARD:0009130]
synonym: "multicore myopathy" EXACT [GARD:0009130]
synonym: "multiminicore disease" EXACT [Orphanet:598]
xref: DOID:0080991 {source="MONDO:equivalentTo"}
xref: GARD:16536 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:598", source="Orphanet:598/ntbt", source="Orphanet:598/inclusion"}
xref: MEDGEN:75731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200480 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200871 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:598 {source="MONDO:equivalentTo"}
xref: SCTID:55133004 {source="MONDO:equivalentTo"}
xref: UMLS:C0270962 {source="MEDGEN:75731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder
is_a: MONDO:0016197 {source="Orphanet:598"} ! qualitative or quantitative defects of selenoprotein N1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018949
name: distal myopathy
def: "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." [Orphanet:599]
subset: disease_grouping
subset: gard_rare {source="GARD:18699", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:599"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal muscular dystrophy" EXACT [MONDO:0001346, Orphanet:599]
synonym: "distal myopathy" EXACT [DOID:11720]
synonym: "Miyoshi muscular dystrophy" NARROW [DOID:11720]
xref: DOID:11720 {source="MONDO:equivalentTo"}
xref: GARD:18699 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:599", source="DOID:11720", source="Orphanet:599/ntbt", source="Orphanet:599/inclusion"}
xref: icd11.foundation:596283352 {source="Orphanet:599", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:155541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049310 {source="DOID:11720"}
xref: NANDO:1200216 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84675 {source="DOID:11720", source="MONDO:equivalentTo"}
xref: OMIMPS:160500 {source="MONDO:equivalentTo"}
xref: Orphanet:399086 {source="DOID:11720"}
xref: Orphanet:399096 {source="DOID:11720"}
xref: Orphanet:5448 {source="DOID:11720"}
xref: Orphanet:59135 {source="DOID:11720"}
xref: Orphanet:599 {source="MONDO:equivalentTo"}
xref: Orphanet:63273 {source="DOID:11720"}
xref: SCTID:58795000 {source="DOID:11720", source="MONDO:equivalentTo"}
xref: UMLS:C0751336 {source="MONDO:equivalentTo", source="MEDGEN:155541", source="MONDO:MEDGEN"}
is_a: MONDO:0020120 {source="MONDO:Redundant", source="Orphanet:599", source="Orphanet:599/inferred"} ! skeletal muscle disorder
is_a: MONDO:0020121 {source="DOID:11720", source="NCIT:C84675"} ! muscular dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:160500"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0018950
name: 3-methylcrotonyl-CoA carboxylase deficiency
def: "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." [Orphanet:6]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10954", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:6"}
subset: orphanet_rare {source="Orphanet:6"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-MCC deficiency" EXACT [NCIT:C98674]
synonym: "3-methylcrotonyl-CoA carboxylase deficiency" EXACT CLINGEN_LABEL []
synonym: "3-methylcrotonylglycinuria" EXACT [DOID:0050710, Orphanet:6]
synonym: "3MCC deficiency" EXACT [DOID:0050710]
synonym: "BMCC deficiency" EXACT [DOID:0050710]
synonym: "MCC deficiency" EXACT [Orphanet:6]
synonym: "MCCD" EXACT ABBREVIATION [Orphanet:6]
synonym: "Methylcrotonyl-CoA carboxylase deficiency" EXACT [NCIT:C98674]
synonym: "methylcrotonylglycinuria" RELATED [OMIMPS:210200]
xref: DOID:0050710 {source="MONDO:equivalentTo"}
xref: GARD:10954 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:6/attributed", source="Orphanet:6/ntbt", source="Orphanet:6"}
xref: MEDGEN:1633312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535308 {source="Orphanet:6", source="Orphanet:6/e"}
xref: NANDO:2200495 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98674 {source="MONDO:equivalentTo"}
xref: OMIMPS:210200 {source="MONDO:equivalentTo"}
xref: Orphanet:6 {source="MONDO:equivalentTo"}
xref: SCTID:13144005 {source="MONDO:equivalentTo"}
xref: UMLS:C4551505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633312"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0019215 {source="Orphanet:6"} ! classic organic aciduria
relationship: disease_has_basis_in_disruption_of GO:0004485 ! methylcrotonoyl-CoA carboxylase activity
relationship: disease_has_feature HP:0001252 ! Hypotonia
relationship: disease_has_feature HP:0003202 ! Skeletal muscle atrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:210200"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0018951
name: distal myopathy with vocal cord weakness
def: "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." [Orphanet:600]
subset: gard_rare {source="GARD:1887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:600"}
subset: orphanet_rare {source="Orphanet:600"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal myopathy 2" RELATED [GARD:0001887]
synonym: "MATR3-related distal myopathy" EXACT [Orphanet:600]
synonym: "MPD2" RELATED ABBREVIATION [GARD:0001887]
synonym: "VCPDM" EXACT ABBREVIATION [Orphanet:600]
synonym: "vocal cord and pharyngeal distal myopathy" RELATED [Orphanet:600]
xref: GARD:1887 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:600/attributed", source="Orphanet:600/ntbt", source="Orphanet:600"}
xref: MEDGEN:342950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:600 {source="MONDO:equivalentTo"}
xref: UMLS:C1853723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342950"}
is_a: MONDO:0016108 {source="Orphanet:600"} ! autosomal dominant distal myopathy

[Term]
id: MONDO:0018952
name: argyria
def: "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine)." [Orphanet:60014]
subset: gard_rare {source="GARD:18856", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:60014"}
subset: orphanet_rare {source="Orphanet:60014"}
subset: rare
synonym: "Silver staining" EXACT [Orphanet:60014]
xref: GARD:18856 {source="MONDO:GARD"}
xref: ICD10CM:T56.8 {source="Orphanet:60014/ntbt", source="Orphanet:60014"}
xref: MedDRA:10003094 {source="Orphanet:60014", source="Orphanet:60014/e"}
xref: MESH:D001129 {source="Orphanet:60014", source="MONDO:equivalentTo", source="Orphanet:60014/e"}
xref: Orphanet:60014 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:60014"} ! poisoning
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0018953
name: parietal foramina
def: "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." [Orphanet:60015]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:60015"}
subset: ordo_malformation_syndrome {source="Orphanet:60015"}
subset: orphanet_rare {source="Orphanet:60015"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Caitlin marks" EXACT [DOID:0060285]
synonym: "catlin marks" EXACT [Orphanet:60015]
synonym: "enlarged parietal foramina" EXACT [DOID:0060285]
synonym: "fenestrae parietales symmetricae" EXACT [Orphanet:60015]
synonym: "foramina parietalia permagna" EXACT [Orphanet:60015]
synonym: "hereditary cranium bifidum" EXACT [DOID:0060285, Orphanet:60015]
synonym: "parietal foramina" EXACT CLINGEN_LABEL []
synonym: "symmetric parietal foramina" EXACT [Orphanet:60015]
xref: DOID:0060285 {source="MONDO:equivalentTo"}
xref: GARD:16662 {source="MONDO:GARD"}
xref: HP:0002697 {source="DOID:0060285", source="MONDO:otherHierarchy"}
xref: ICD10CM:Q75.8 {source="Orphanet:60015", source="Orphanet:60015/attributed", source="Orphanet:60015/ntbt"}
xref: MEDGEN:526951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566826 {source="DOID:0060285", source="MONDO:equivalentTo"}
xref: OMIMPS:168500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:60015 {source="DOID:0060285", source="MONDO:equivalentTo"}
xref: SCTID:718099006 {source="MONDO:equivalentTo"}
xref: UMLS:C0222706 {source="MEDGEN:526951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018075 {source="DOID:0060285", source="MESH:C566826/inferred"} ! neural tube defect
is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! skeletal dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:168500"} ! inherited

[Term]
id: MONDO:0018954
name: Loeys-Dietz syndrome
def: "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." [Orphanet:60030]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10788", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:91173"}
subset: ordo_disorder {source="Orphanet:60030"}
subset: ordo_malformation_syndrome {source="Orphanet:60030"}
subset: orphanet_rare {source="Orphanet:60030"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aortic aneurysm syndrome due to TGF-beta receptors anomalies" EXACT [Orphanet:60030]
synonym: "aortic aneurysm syndrome, Loeys-Dietz type" RELATED [GARD:0010788]
synonym: "Loeys-Dietz syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0050466 {source="MONDO:equivalentTo"}
xref: GARD:10788 {source="MONDO:GARD"}
xref: ICD10CM:Q87.4 {source="Orphanet:60030/attributed", source="Orphanet:60030/ntbt", source="Orphanet:60030"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:395827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055947 {source="DOID:0050466", source="MONDO:equivalentTo"}
xref: NANDO:2200969 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75006 {source="DOID:0050466", source="MONDO:equivalentTo"}
xref: NORD:91173 {source="MONDO:NORD"}
xref: OMIMPS:609192 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:60030 {source="DOID:0050466", source="MONDO:equivalentTo"}
xref: SCTID:446263001 {source="DOID:0050466", source="MONDO:equivalentTo"}
xref: UMLS:C2697932 {source="MEDGEN:395827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0050466", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="NCIT:C75006"} ! syndromic disease
is_a: MONDO:0005385 ! vascular disorder
is_a: MONDO:0017310 {source="Orphanet:60030"} ! Marfan and Marfan-related disorder
relationship: has_characteristic HP:0000006 {source="Orphanet:60030"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609192"} ! inherited

[Term]
id: MONDO:0018955
name: recurrent respiratory papillomatosis
def: "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive." [Orphanet:60032]
subset: gard_rare {source="GARD:111", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1651"}
subset: ordo_disorder {source="Orphanet:60032"}
subset: orphanet_rare {source="Orphanet:60032"}
subset: rare
synonym: "adult-onset recurrent respiratory papillomatosis (type)" RELATED [GARD:0000111]
synonym: "AORRP (type)" RELATED [GARD:0000111]
synonym: "JORRP (type)" RELATED [GARD:0000111]
synonym: "juvenile laryngeal papilloma" RELATED [GARD:0000111]
synonym: "juvenile-onset recurrent respiratory papillomatosis (type)" RELATED [GARD:0000111]
synonym: "laryngeal papilloma, recurrent" RELATED [GARD:0000111]
synonym: "recurrent respiratory papillomatosis" EXACT [NCIT:C128637]
synonym: "respiratory papillomatosis, recurrent" RELATED [GARD:0000111]
synonym: "RRP" EXACT ABBREVIATION [GARD:0000111, NCIT:C128637]
xref: GARD:111 {source="MONDO:GARD"}
xref: icd11.foundation:151039887 {source="Orphanet:60032", source="MONDO:equivalentTo"}
xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10059314 {source="Orphanet:60032", source="Orphanet:60032/e"}
xref: MEDGEN:216998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535297 {source="Orphanet:60032", source="MONDO:equivalentTo", source="Orphanet:60032/e"}
xref: NCIT:C128637 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1651 {source="MONDO:NORD"}
xref: Orphanet:60032 {source="MONDO:equivalentTo"}
xref: SCTID:472827002 {source="MONDO:equivalentTo"}
xref: UMLS:C1168198 {source="MONDO:equivalentTo", source="MEDGEN:216998", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:60032"} ! respiratory system disorder
is_a: MONDO:0021098 {source="NCIT:C128637"} ! papillomatosis
is_a: MONDO:0024623 {source="Orphanet:60032"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis" xsd:anyURI {source="GARD:0000111"}

[Term]
id: MONDO:0018956
name: idiopathic bronchiectasis
def: "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." [Orphanet:60033]
subset: gard_rare {source="GARD:16664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:60033"}
subset: orphanet_rare {source="Orphanet:60033"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16664 {source="MONDO:GARD"}
xref: ICD10CM:J47 {source="Orphanet:60033/attributed", source="Orphanet:60033/ntbt", source="Orphanet:60033"}
xref: icd11.foundation:1935524933 {source="Orphanet:60033", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:573462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:60033 {source="MONDO:equivalentTo"}
xref: SCTID:233629001 {source="MONDO:equivalentTo"}
xref: UMLS:C0339985 {source="MEDGEN:573462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004822 {source="https://orcid.org/0000-0001-5208-3432"} ! bronchiectasis
is_a: MONDO:0005087 {source="Orphanet:60033"} ! respiratory system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0018957
name: pudendal neuralgia
def: "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction." [Orphanet:60039]
subset: gard_rare {source="GARD:10713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:60039"}
subset: orphanet_rare {source="Orphanet:60039"}
subset: rare
synonym: "Alcock syndrome" EXACT [Orphanet:60039]
synonym: "neuralgia of pudendal nerve" EXACT [MONDO:design_pattern]
synonym: "pudendal algia" EXACT [Orphanet:60039]
synonym: "pudendal nerve entrapment syndrome" EXACT [Orphanet:60039]
synonym: "pudendal nerve neuralgia" EXACT [MONDO:patterns/location]
synonym: "pudendal neuralgia by pudendal nerve entrapment" EXACT [Orphanet:60039]
synonym: "Pudendalgia" EXACT [Orphanet:60039]
xref: GARD:10713 {source="MONDO:GARD"}
xref: ICD10CM:M79.2 {source="Orphanet:60039", source="Orphanet:60039/ntbt"}
xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:372681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060545 {source="MONDO:equivalentTo", source="Orphanet:60039", source="Orphanet:60039/e"}
xref: Orphanet:60039 {source="MONDO:equivalentTo"}
xref: SCTID:427972000 {source="MONDO:equivalentTo"}
xref: UMLS:C1997249 {source="MONDO:equivalentTo", source="MEDGEN:372681", source="MONDO:MEDGEN"}
is_a: MONDO:0015923 {source="Orphanet:60039"} ! acquired peripheral neuropathy
intersection_of: MONDO:0021667 ! neuralgia
intersection_of: disease_has_location UBERON:0011390 ! pudendal nerve
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia" xsd:anyURI {source="GARD:0010713"}

[Term]
id: MONDO:0018958
name: nemaline myopathy
def: "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy." [Orphanet:607]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12033", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:607"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital rod disease" RELATED [GARD:0012033]
synonym: "NEM" EXACT ABBREVIATION [Orphanet:607]
synonym: "nemaline body disease" EXACT [DOID:3191]
synonym: "nemaline myopathy" EXACT CLINGEN_LABEL []
synonym: "nemaline rod disease" RELATED [GARD:0012033]
synonym: "nemaline rod myopathy" EXACT [DOID:3191, Orphanet:607]
synonym: "NM" EXACT ABBREVIATION [Orphanet:607]
synonym: "Rod body disease" RELATED [GARD:0012033]
synonym: "rod myopathy" EXACT [DOID:3191]
synonym: "Rod-body myopathy" RELATED [GARD:0012033]
xref: DOID:3191 {source="MONDO:equivalentTo"}
xref: GARD:12033 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:607/inclusion", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/ntbt"}
xref: icd11.foundation:1996502540 {source="MONDO:equivalentTo", source="Orphanet:607"}
xref: MEDGEN:61528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017696 {source="MONDO:equivalentTo", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/e"}
xref: NANDO:1200478 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200869 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:161800 {source="MONDO:equivalentTo", source="DOID:3191"}
xref: Orphanet:607 {source="MONDO:equivalentTo", source="DOID:3191"}
xref: SCTID:75072002 {source="MONDO:equivalentTo", source="DOID:3191"}
xref: UMLS:C0206157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61528"}
is_a: MONDO:0002921 {source="DOID:3191", source="MESH:D017696"} ! congenital structural myopathy
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:161800"} ! inherited

[Term]
id: MONDO:0018959
name: potassium-aggravated myotonia
def: "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia." [Orphanet:612]
subset: disease_grouping
subset: gard_rare {source="GARD:4459", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "K+-aggravated myotonia" EXACT [Orphanet:612]
synonym: "K-aggravated myotonia" EXACT [Orphanet:612]
synonym: "Laryngospasm, Severe Neonatal Episodic" RELATED [OMIM:608390]
synonym: "Myotonia Congenita, Acetazolamide-Responsive" RELATED [OMIM:608390]
synonym: "Myotonia Congenita, Atypical" RELATED [OMIM:608390]
synonym: "myotonia congenita, atypical, acetazolamide-responsive" EXACT [OMIM:608390, OMIM:genemap2]
synonym: "Myotonia Fluctuans" RELATED [OMIM:608390]
synonym: "Myotonia Permanens" RELATED [OMIM:608390]
synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [OMIM:608390]
synonym: "PAM" EXACT ABBREVIATION [Orphanet:612]
synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788]
synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390]
xref: GARD:4459 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:612", source="Orphanet:612/attributed", source="Orphanet:612/ntbt"}
xref: MEDGEN:444151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538353 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"}
xref: NANDO:1200500 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122788 {source="MONDO:equivalentTo"}
xref: OMIM:608390 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"}
xref: Orphanet:612 {source="OMIM:608390", source="MONDO:equivalentTo"}
xref: Orphanet:99734 {source="OMIM:608390"}
xref: Orphanet:99735 {source="OMIM:608390"}
xref: Orphanet:99736 {source="OMIM:608390"}
xref: SCTID:702355008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444151"}
is_a: MONDO:0016120 {source="Orphanet:612"} ! myotonic syndrome
is_a: MONDO:0019119 {source="Orphanet:612"} ! muscular channelopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 {source="OMIM:608390"} ! SCN4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0018960
name: congenital primary megaureter
def: "An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." [https://orcid.org/0000-0001-5208-3432, Orphanet:617]
subset: gard_rare {source="GARD:18700", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617"}
subset: ordo_morphological_anomaly {source="Orphanet:617"}
subset: orphanet_rare {source="Orphanet:617"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CGM" RELATED ABBREVIATION [GARD:0000219]
synonym: "congenital giant megaureter" RELATED [GARD:0000219]
synonym: "congenital megalo-ureter" RELATED [GARD:0001492]
synonym: "congenital primary megalo-ureter" EXACT [Orphanet:617]
xref: GARD:18700 {source="MONDO:GARD"}
xref: ICD10CM:Q62.2 {source="Orphanet:617/specific", source="Orphanet:617", source="Orphanet:617/e"}
xref: icd11.foundation:566805920 {source="MONDO:equivalentTo", source="Orphanet:617"}
xref: MEDGEN:903364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200184 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:617 {source="MONDO:equivalentTo"}
xref: SCTID:717459000 {source="MONDO:equivalentTo"}
xref: UMLS:C4273898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903364"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:617", source="Orphanet:617/inferred"} ! kidney disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:617", source="Orphanet:617/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter" xsd:anyURI {source="GARD:0001492"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter" xsd:anyURI {source="GARD:0000219"}

[Term]
id: MONDO:0018961
name: familial melanoma
def: "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family." [Orphanet:618]
subset: gard_rare {source="GARD:3460", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:618"}
subset: orphanet_rare {source="Orphanet:618"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary melanoma (disease)" EXACT [MONDO:patterns/hereditary]
xref: DOID:6846 {source="MONDO:equivalentTo"}
xref: GARD:3460 {source="MONDO:GARD"}
xref: ICD10CM:C43.0 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: ICD10CM:C43.1 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: ICD10CM:C43.2 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: ICD10CM:C43.3 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: ICD10CM:C43.4 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: ICD10CM:C43.5 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: ICD10CM:C43.6 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: ICD10CM:C43.7 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: ICD10CM:C43.8 {source="Orphanet:618/specific", source="Orphanet:618", source="Orphanet:618/btnt"}
xref: MEDGEN:268851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8498 {source="DOID:6846", source="MONDO:equivalentTo"}
xref: Orphanet:618 {source="MONDO:equivalentTo"}
xref: UMLS:C1512419 {source="MEDGEN:268851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005105 ! melanoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:618", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:618", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: excluded_subClassOf MONDO:0020177 {source="Orphanet:618", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pigmented palpebral tumor

[Term]
id: MONDO:0018962
name: common mesentery
subset: ordo_morphological_anomaly {source="Orphanet:620"}
synonym: "universal mesentery" EXACT [Orphanet:620]
xref: ICD10CM:Q43.3 {source="Orphanet:620", source="Orphanet:620/ntbt", source="Orphanet:620/inclusion"}
xref: MEDGEN:539782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620 {source="MONDO:equivalentObsolete"}
xref: SCTID:52159006 {source="MONDO:equivalentTo"}
xref: UMLS:C0266235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539782"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0002-4142-7153"} ! digestive system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0018963
name: hereditary methemoglobinemia
def: "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present." [NCIT:C98898]
subset: gard_rare {source="GARD:2659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:621"}
subset: orphanet_rare {source="Orphanet:621"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive methemoglobinemia" EXACT [Orphanet:621]
synonym: "congenital methemoglobinemia" EXACT [Orphanet:621]
synonym: "hereditary methemoglobinemia" EXACT [MONDO:patterns/hereditary]
xref: GARD:2659 {source="MONDO:GARD"}
xref: ICD10CM:D74.0 {source="Orphanet:621", source="Orphanet:621/attributed", source="Orphanet:621/ntbt"}
xref: icd11.foundation:586921197 {source="Orphanet:621", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:473013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580280 {source="MONDO:equivalentTo"}
xref: NCIT:C98898 {source="MONDO:equivalentTo"}
xref: Orphanet:621 {source="MONDO:equivalentTo"}
xref: SCTID:267550008 {source="MONDO:equivalentTo"}
xref: UMLS:C0272087 {source="MEDGEN:473013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001117 {source="MESH:C580280", source="MONDO:Redundant", source="NCIT:C98898"} ! methemoglobinemia
is_a: MONDO:0002280 {source="MONDO:Redundant", source="Orphanet:621", source="Orphanet:621/inferred"} ! anemia
is_a: MONDO:0003847 {source="MONDO:Entailed", source="Orphanet:621/inferred"} ! hereditary disease
is_a: MONDO:0019050 {source="MONDO:Redundant", source="Orphanet:621"} ! inherited hemoglobinopathy
intersection_of: MONDO:0001117 ! methemoglobinemia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare

[Term]
id: MONDO:0018964
name: homocystinuria without methylmalonic aciduria
def: "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)." [Orphanet:622]
subset: gard_rare {source="GARD:16537", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:622"}
subset: orphanet_rare {source="Orphanet:622"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "functional methionine synthase deficiency" EXACT [Orphanet:622]
synonym: "homocystinuria without methylmalonic aciduria" EXACT []
synonym: "methylcobalamin deficiency" EXACT [Orphanet:622]
xref: GARD:16537 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:622/attributed", source="Orphanet:622/ntbt", source="Orphanet:622"}
xref: MEDGEN:929148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:622 {source="MONDO:equivalentTo"}
xref: SCTID:721225009 {source="MONDO:equivalentTo"}
xref: UMLS:C4303479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929148"}
is_a: MONDO:0004737 {source="https://orcid.org/0000-0001-5208-3432"} ! homocystinuria
is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0016624 ! inherited deficiency anemia
is_a: MONDO:0019220 {source="Orphanet:622"} ! inborn disorder of cobalamin metabolism and transport
is_a: MONDO:0019222 {source="Orphanet:622"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
relationship: has_characteristic HP:0000007 {source="Orphanet:622"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0018965
name: Alport syndrome
def: "A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies." [Orphanet:63]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5785", source="MONDO:GARD"}
subset: nord_rare {source="NORD:756", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63"}
subset: orphanet_rare {source="Orphanet:63"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alport deafness-nephropathy" EXACT [Orphanet:63]
synonym: "Alport syndrome" EXACT CLINGEN_LABEL []
synonym: "Alport's syndrome" EXACT [NCIT:C34842]
synonym: "hereditary nephritis" BROAD [DOID:10983, NCIT:C34842]
xref: DOID:10983 {source="MONDO:equivalentTo"}
xref: GARD:5785 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:63/ntbt", source="Orphanet:63/inclusion", source="Orphanet:63"}
xref: ICD10CM:Q87.81 {source="MONDO:equivalentTo"}
xref: MedDRA:10001843 {source="Orphanet:63/e", source="Orphanet:63"}
xref: MEDGEN:339209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009394 {source="DOID:10983", source="MONDO:relatedTo", source="Orphanet:63/e", source="Orphanet:63"}
xref: NANDO:1200712 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200126 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34842 {source="MONDO:equivalentTo"}
xref: NORD:756 {source="MONDO:NORD"}
xref: OMIMPS:301050 {source="MONDO:equivalentTo"}
xref: Orphanet:63 {source="DOID:10983", source="MONDO:equivalentTo"}
xref: SCTID:399340005 {source="DOID:10983"}
xref: SCTID:57333009 {source="DOID:10983"}
xref: UMLS:C1567741 {source="MEDGEN:339209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34842"} ! syndromic disease
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
is_a: MONDO:0005334 {source="https://orcid.org/0000-0003-4546-6667"} ! hereditary nephritis
relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:63", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:301050"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3367" xsd:anyURI

[Term]
id: MONDO:0018966
name: obsolete isolated growth hormone deficiency
is_obsolete: true
replaced_by: MONDO:0000050

[Term]
id: MONDO:0018967
name: short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
comment: Editor note: classified as both isolated and syndromic in ORDO
subset: gard_rare {source="GARD:16538", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:632"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16538 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:632", source="Orphanet:632/attributed", source="Orphanet:632/ntbt"}
xref: Orphanet:632 {source="MONDO:equivalentTo"}
is_a: MONDO:0010615 {source="Orphanet:632"} ! isolated growth hormone deficiency type III
is_a: MONDO:0015977 {source="https://orcid.org/0000-0002-6601-2165"} ! agammaglobulinemia
relationship: excluded_subClassOf MONDO:0016463 {source="Orphanet:632", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic agammaglobulinemia

[Term]
id: MONDO:0018968
name: iniencephaly
def: "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." [Orphanet:63259]
subset: gard_rare {source="GARD:10506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63259"}
subset: ordo_morphological_anomaly {source="Orphanet:63259"}
subset: orphanet_rare {source="Orphanet:63259"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:10506 {source="MONDO:GARD"}
xref: ICD10CM:Q00.2 {source="Orphanet:63259", source="MONDO:equivalentTo", source="Orphanet:63259/e", source="Orphanet:63259/specific"}
xref: icd11.foundation:1558931335 {source="Orphanet:63259", source="MONDO:equivalentTo"}
xref: ICD9:740.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10022034 {source="Orphanet:63259", source="Orphanet:63259/e"}
xref: MEDGEN:57756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124549 {source="MONDO:equivalentTo"}
xref: Orphanet:63259 {source="MONDO:equivalentTo"}
xref: SCTID:2438005 {source="MONDO:equivalentTo"}
xref: UMLS:C0152234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57756"}
is_a: MONDO:0018075 {source="MONDO:Redundant", source="NCIT:C124549", source="Orphanet:63259/inferred"} ! neural tube defect
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10506/iniencephaly" xsd:anyURI {source="GARD:0010506"}

[Term]
id: MONDO:0018969
name: craniorachischisis
def: "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." [Orphanet:63260]
subset: gard_rare {source="GARD:10504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63260"}
subset: ordo_morphological_anomaly {source="Orphanet:63260"}
subset: orphanet_rare {source="Orphanet:63260"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cranial rachischisis" EXACT [NCIT:C98907]
synonym: "craniorachischisis" EXACT [MONDO:ambiguous]
synonym: "craniorachischisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:10504 {source="MONDO:GARD"}
xref: HP:0030770 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q00.1 {source="Orphanet:63260/e", source="Orphanet:63260/specific", source="Orphanet:63260"}
xref: icd11.foundation:675690362 {source="MONDO:equivalentTo", source="Orphanet:63260"}
xref: ICD9:740.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10011321 {source="Orphanet:63260/e", source="Orphanet:63260"}
xref: MEDGEN:56290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98907 {source="MONDO:equivalentTo"}
xref: Orphanet:63260 {source="MONDO:equivalentTo"}
xref: SCTID:32219008 {source="MONDO:equivalentTo"}
xref: UMLS:C0152426 {source="MEDGEN:56290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="NCIT:C98907"} ! congenital nervous system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "craniorachischisis (disease)" xsd:string

[Term]
id: MONDO:0018970
name: obsolete pemphigoid gestationis
is_obsolete: true
replaced_by: MONDO:0006558

[Term]
id: MONDO:0018971
name: isolated oxycephaly
def: "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull." [Orphanet:63440]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:63440"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrocephaly" EXACT [Orphanet:63440]
synonym: "hypsicephaly" EXACT [Orphanet:63440]
synonym: "hypsocephaly" EXACT [Orphanet:63440]
synonym: "pyrgocephaly" EXACT [Orphanet:63440]
synonym: "turricephaly" EXACT [Orphanet:63440]
xref: ICD10CM:Q75.0 {source="Orphanet:63440/ntbt", source="Orphanet:63440/inclusion", source="Orphanet:63440"}
xref: MEDGEN:1726910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:63440 {source="MONDO:equivalentObsolete"}
xref: SCTID:48069004 {source="MONDO:equivalentTo"}
xref: UMLS:C5399823 {source="MEDGEN:1726910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015337 {source="Orphanet:63440"} ! isolated craniosynostosis
is_a: MONDO:0015469 {source="PMID:28623672", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0018972
name: obsolete rare epithelial tumor of stomach
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:63443"}
synonym: "rare gastric epithelial tumor" EXACT [Orphanet:63443]
xref: GARD:18857 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:63443 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true
consider: MedDRA:10017758 {source="Orphanet:63443", source="Orphanet:63443/e"}

[Term]
id: MONDO:0018973
name: patterned dystrophy of the retinal pigment epithelium
subset: disease_grouping
subset: gard_rare {source="GARD:9821", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:63454"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:9821 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:63454/attributed", source="Orphanet:63454/ntbt", source="MONDO:relatedTo", source="Orphanet:63454"}
xref: MEDGEN:357005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536309 {source="Orphanet:63454", source="MONDO:equivalentTo", source="Orphanet:63454/e"}
xref: Orphanet:63454 {source="MONDO:equivalentTo"}
xref: UMLS:C1868569 {source="MEDGEN:357005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020242 {source="Orphanet:63454"} ! hereditary macular dystrophy

[Term]
id: MONDO:0018974
name: paraneoplastic pemphigus
def: "Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare." [Orphanet:63455]
subset: gard_rare {source="GARD:18858", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63455"}
subset: orphanet_rare {source="Orphanet:63455"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080852 {source="MONDO:equivalentTo"}
xref: EFO:0008602 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18858 {source="MONDO:GARD"}
xref: ICD10CM:L10.8 {source="Orphanet:63455", source="Orphanet:63455/ntbt"}
xref: ICD10CM:L10.81 {source="MONDO:equivalentTo"}
xref: icd11.foundation:104197957 {source="Orphanet:63455", source="MONDO:equivalentTo"}
xref: MedDRA:10057056 {source="Orphanet:63455", source="Orphanet:63455/e"}
xref: MEDGEN:798302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200231 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:63455 {source="MONDO:equivalentTo"}
xref: UMLS:C1112570 {source="MEDGEN:798302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019337 {source="EFO:0008602/inferred", source="Orphanet:63455"} ! autoimmune bullous skin disease
is_a: MONDO:0021073 {source="https://orcid.org/0000-0002-6601-2165"} ! paraneoplastic syndrome
is_a: MONDO:0700266 {source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic cutaneous syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0018975
name: neurofibromatosis type 1
def: "A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." [https://orcid.org/0000-0001-5208-3432, Orphanet:636]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7866", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1502"}
subset: ordo_disorder {source="Orphanet:636"}
subset: orphanet_rare {source="Orphanet:636"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neurofibromatosis" BROAD [NCIT:C3273]
synonym: "Neurofibromatosis 1" EXACT [NORD:1502]
synonym: "neurofibromatosis 1" EXACT [NCIT:C3273, NORD:1502]
synonym: "neurofibromatosis type 1" EXACT CLINGEN_LABEL [NCIT:C3273]
synonym: "neurofibromatosis type 1 microdeletion syndrome" RELATED [NCIT:C3273]
synonym: "neurofibromatosis type i" EXACT [https://orcid.org/0000-0002-1780-9872]
synonym: "neurofibromatosis, peripheral type" RELATED [OMIM:162200]
synonym: "neurofibromatosis, type 1" EXACT [MONDO:0008077]
synonym: "neurofibromatosis, type I" RELATED [MONDO:Lexical, OMIM:162200]
synonym: "NF1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3273, OMIM:162200, Orphanet:636]
synonym: "Nf1-Microdeletion syndrome" EXACT [DECIPHER:15]
synonym: "nonmosaic neurofibromatosis type 1" EXACT [Orphanet:636]
synonym: "nonmosaic NF1" EXACT [Orphanet:636]
synonym: "peripheral neurofibromatosis" EXACT [NCIT:C3273]
synonym: "Recklinghausen's disease" RELATED [GARD:0007866]
synonym: "type 1 neurofibromatosis" RELATED [GARD:0007866]
synonym: "Von Recklinghausen disease" RELATED [NCIT:C3273, OMIM:162200, Orphanet:636]
synonym: "von Reklinghausen disease" RELATED [DOID:8712]
xref: DECIPHER:15 {source="MONDO:equivalentTo"}
xref: DOID:0111253 {source="MONDO:equivalentTo"}
xref: GARD:7866 {source="MONDO:GARD"}
xref: ICD10CM:Q85.0 {source="Orphanet:636/ntbt", source="Orphanet:636/inclusion", source="Orphanet:636"}
xref: icd11.foundation:337970533 {source="Orphanet:636", source="MONDO:equivalentTo"}
xref: ICD9:237.71 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10047712 {source="Orphanet:636", source="Orphanet:636/e"}
xref: MEDGEN:18013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538607 {source="MONDO:equivalentObsolete", source="Orphanet:636/e"}
xref: MESH:D009456 {source="DOID:8712", source="Orphanet:636", source="MONDO:equivalentTo", source="Orphanet:636/e"}
xref: NANDO:1200225 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200226 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100287 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201003 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3273 {source="DOID:8712", source="MONDO:equivalentTo"}
xref: NORD:1502 {source="MONDO:NORD"}
xref: OMIM:162200 {source="Orphanet:636/btnt", source="DOID:8712", source="Orphanet:636", source="MONDO:equivalentTo"}
xref: Orphanet:363700 {source="OMIM:162200"}
xref: Orphanet:636 {source="DOID:8712", source="MONDO:equivalentTo", source="OMIM:162200"}
xref: SCTID:92824003 {source="MONDO:equivalentTo"}
xref: UMLS:C0027831 {source="MEDGEN:18013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021060 {source="Wikipedia:RASopathy", source="https://orcid.org/0000-0002-6601-2165"} ! RASopathy
is_a: MONDO:0021061 {source="MESH:D009456", source="NCIT:C3273"} ! neurofibromatosis
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
is_a: MONDO:0042983 {source="MONDO:0020271-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! neurocutaneous syndrome
relationship: disease_has_feature MONDO:0019289 {source="Orphanet:636"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:636", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Moyamoya syndrome
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:636", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: excluded_subClassOf MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162200", source="Orphanet:636"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6623" xsd:anyURI

[Term]
id: MONDO:0018976
name: schisis association
def: "The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates." [https://orcid.org/0000-0001-5208-3432, Orphanet:63862]
subset: gard_rare {source="GARD:246", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:63862"}
subset: ordo_malformation_syndrome {source="Orphanet:63862"}
subset: orphanet_rare {source="Orphanet:63862"}
subset: rare
synonym: "Midline development field defects" RELATED [GARD:0000246]
xref: GARD:246 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:63862", source="Orphanet:63862/ntbt"}
xref: MEDGEN:444017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536633 {source="Orphanet:63862", source="MONDO:equivalentTo", source="Orphanet:63862/e"}
xref: Orphanet:63862 {source="MONDO:equivalentTo"}
xref: SCTID:718095000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931271 {source="MEDGEN:444017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/246/schisis-association" xsd:anyURI {source="GARD:0000246"}

[Term]
id: MONDO:0018977
name: polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
def: "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait." [Orphanet:639]
subset: gard_rare {source="GARD:13173", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:639"}
subset: orphanet_rare {source="Orphanet:639"}
subset: rare
synonym: "anti-MAG neuropathy" EXACT [Orphanet:639]
synonym: "neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein" EXACT [Orphanet:639]
xref: GARD:13173 {source="MONDO:GARD"}
xref: ICD10CM:G61.8 {source="Orphanet:639", source="Orphanet:639/ntbt"}
xref: MEDGEN:1434346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:639 {source="MONDO:equivalentTo"}
xref: UMLS:C1736154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1434346"}
is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder
is_a: MONDO:0015923 {source="Orphanet:639"} ! acquired peripheral neuropathy

[Term]
id: MONDO:0018978
name: IgG4-related mediastinitis
subset: gard_rare {source="GARD:8337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1146"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:63999"}
subset: rare
synonym: "Fibrosing Mediastinitis" EXACT [NORD:1146]
synonym: "fibrosing mediastinitis" EXACT [Orphanet:63999]
synonym: "idiopathic mediastinal fibrosis" RELATED [GARD:0008337]
synonym: "mediastinal fibrosis" EXACT [Orphanet:63999]
synonym: "sclerosing mediastinitis" EXACT [Orphanet:63999]
xref: GARD:8337 {source="MONDO:GARD"}
xref: ICD10CM:J98.5 {source="Orphanet:63999", source="Orphanet:63999/ntbt"}
xref: icd11.foundation:123840075 {source="MONDO:equivalentTo", source="Orphanet:63999", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10027074 {source="Orphanet:63999", source="Orphanet:63999/e"}
xref: MEDGEN:82683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536136 {source="MONDO:equivalentTo", source="Orphanet:63999", source="Orphanet:63999/e"}
xref: NORD:1146 {source="MONDO:NORD"}
xref: Orphanet:63999 {source="MONDO:equivalentTo"}
xref: UMLS:C0264573 {source="MEDGEN:82683", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:63999"} ! respiratory system disorder
is_a: MONDO:0017287 {source="Orphanet:63999"} ! IgG4-related disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020000"} ! rare

[Term]
id: MONDO:0018979
name: multifocal motor neuropathy
def: "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping." [Orphanet:641]
subset: gard_rare {source="GARD:11011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1952"}
subset: ordo_disorder {source="Orphanet:641"}
subset: orphanet_rare {source="Orphanet:641"}
subset: rare
synonym: "MMN" EXACT ABBREVIATION [Orphanet:641]
synonym: "MMNCB" EXACT ABBREVIATION [Orphanet:641]
synonym: "multifocal motor neuropathy with conduction block" EXACT [Orphanet:641]
xref: GARD:11011 {source="MONDO:GARD"}
xref: ICD10CM:G61.8 {source="Orphanet:641/ntbt", source="Orphanet:641"}
xref: ICD10CM:G61.82 {source="MONDO:equivalentTo"}
xref: ICD9:357.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:581615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1952 {source="MONDO:NORD"}
xref: Orphanet:641 {source="MONDO:equivalentTo"}
xref: SCTID:230591002 {source="MONDO:equivalentTo"}
xref: UMLS:C0393847 {source="MEDGEN:581615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015923 {source="https://orcid.org/0000-0002-4142-7153"} ! acquired peripheral neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy" xsd:anyURI {source="GARD:0011011"}

[Term]
id: MONDO:0018980
name: acrofacial dysostosis, Kennedy-Teebi type
def: "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." [Orphanet:64542]
subset: gard_rare {source="GARD:18859", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64542"}
subset: ordo_malformation_syndrome {source="Orphanet:64542"}
subset: orphanet_rare {source="Orphanet:64542"}
subset: rare
synonym: "Kennedy-Teebi syndrome" EXACT [Orphanet:64542]
xref: GARD:18859 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:64542", source="Orphanet:64542/attributed", source="Orphanet:64542/ntbt"}
xref: MEDGEN:929763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:64542 {source="MONDO:equivalentTo"}
xref: SCTID:720427009 {source="MONDO:equivalentTo"}
xref: UMLS:C4304094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929763"}
is_a: MONDO:0018237 {source="Orphanet:64542"} ! acrofacial dysostosis

[Term]
id: MONDO:0018981
name: benign idiopathic neonatal seizures
def: "A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable." [Orphanet:64545]
subset: gard_rare {source="GARD:18860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64545"}
subset: orphanet_rare {source="Orphanet:64545"}
subset: rare
synonym: "benign nonfamilial neonatal seizures" EXACT [Orphanet:64545]
synonym: "BINS" EXACT ABBREVIATION [Orphanet:64545]
xref: GARD:18860 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:64545/ntbt", source="Orphanet:64545"}
xref: MEDGEN:140738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:64545 {source="MONDO:equivalentTo"}
xref: UMLS:C0393693 {source="MEDGEN:140738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020070 {source="Orphanet:64545"} ! neonatal epilepsy syndrome
relationship: has_characteristic HP:0003623 {source="Orphanet:64545"} ! Neonatal onset
relationship: has_characteristic MONDO:0700005 {source="Orphanet:64545"} ! idiopathic

[Term]
id: MONDO:0018982
name: Niemann-Pick disease type C
def: "NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment." [PMID:21502308]
subset: gard_rare {source="GARD:7207", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1509", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:646"}
subset: orphanet_rare {source="Orphanet:646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Niemann Pick Disease Type C" EXACT [NORD:1509]
synonym: "NPC" BROAD ABBREVIATION [PMID:21502308]
xref: GARD:7207 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:646/inclusion", source="Orphanet:646/ntbt", source="Orphanet:646"}
xref: MEDGEN:67399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052556 {source="Orphanet:646", source="MONDO:equivalentTo", source="Orphanet:646/e"}
xref: NANDO:1200063 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1509 {source="MONDO:NORD"}
xref: Orphanet:646 {source="MONDO:equivalentTo"}
xref: SCTID:66751000 {source="MONDO:equivalentTo"}
xref: UMLS:C0220756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67399"}
is_a: MONDO:0001982 {source="MESH:D052556", source="Orphanet:646", source="https://orcid.org/0000-0002-6601-2165"} ! Niemann-Pick disease
relationship: excluded_subClassOf MONDO:0002561 {source="MESH:D052556/inferred", source="Orphanet:646/inferred", source="PMID:21723623", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal storage disease
relationship: excluded_subClassOf MONDO:0017037 {source="Orphanet:646", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
relationship: excluded_subClassOf MONDO:0018299 {source="Orphanet:646", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete sphingolipidosis with epilepsy
relationship: excluded_subClassOf MONDO:0019058 {source="Orphanet:646", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neurometabolic disease
relationship: excluded_subClassOf MONDO:0019245 {source="MESH:D052556/inferred", source="Orphanet:646", source="PMID:21502308", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal lipid storage disorder
relationship: excluded_subClassOf MONDO:0020143 {source="Orphanet:646", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral lipidosis with dementia
relationship: excluded_subClassOf MONDO:0020244 {source="Orphanet:646", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified primitive or secondary maculopathy
relationship: excluded_subClassOf MONDO:0020257 {source="Orphanet:646", source="https://orcid.org/0000-0001-5208-3432"} ! supranuclear oculomotor palsy
relationship: has_characteristic HP:0000007 {source="Orphanet:646"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0018983
name: Tolosa-Hunt syndrome
def: "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others." [Orphanet:64686]
subset: gard_rare {source="GARD:7777", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1774"}
subset: ordo_disorder {source="Orphanet:64686"}
subset: orphanet_rare {source="Orphanet:64686"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nonspecific inflammation of the cavernous sinus or superior orbital fissure" RELATED [GARD:0007777]
synonym: "painful ophthalmoplegia" EXACT [Orphanet:64686]
synonym: "THS" RELATED ABBREVIATION [GARD:0007777]
synonym: "Tolosa Hunt Syndrome" EXACT [NORD:1774]
synonym: "Tolosa Hunt syndrome" EXACT [GARD:0007777]
synonym: "Tolosa-Hunt syndrome" EXACT [DOID:1278]
xref: DOID:1278 {source="MONDO:equivalentTo"}
xref: GARD:7777 {source="MONDO:GARD"}
xref: ICD10CM:H49.8 {source="Orphanet:64686/attributed", source="Orphanet:64686/ntbt", source="Orphanet:64686"}
xref: MedDRA:10051526 {source="Orphanet:64686", source="Orphanet:64686/e"}
xref: MEDGEN:21197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531833 {source="Orphanet:64686", source="Orphanet:64686/e"}
xref: MESH:D020333 {source="Orphanet:64686", source="DOID:1278", source="MONDO:equivalentTo", source="Orphanet:64686/e"}
xref: NCIT:C85193 {source="DOID:1278", source="MONDO:equivalentTo"}
xref: NORD:1774 {source="MONDO:NORD"}
xref: Orphanet:64686 {source="MONDO:equivalentTo"}
xref: SCTID:75111000 {source="DOID:1278"}
xref: SCTID:95794005 {source="DOID:1278", source="MONDO:equivalentTo"}
xref: UMLS:C0040381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21197"}
is_a: MONDO:0001584 {source="DOID:1278"} ! ocular motility disease
is_a: MONDO:0002254 {source="NCIT:C85193"} ! syndromic disease
is_a: MONDO:0015083 {source="Orphanet:64686"} ! nuclear oculomotor paralysis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome" xsd:anyURI {source="GARD:0007777"}

[Term]
id: MONDO:0018984
name: Oroya fever
def: "An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise." [NCIT:C128441]
subset: gard_rare {source="GARD:18861", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64692"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:659756"}
subset: orphanet_rare {source="Orphanet:64692"}
subset: rare
synonym: "Bartonella bacilliformis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bartonella bacilliformis disease or disorder" EXACT []
synonym: "Bartonella bacilliformis infectious disease" EXACT []
synonym: "bartonellosis due to Bartonella bacilliformis infection" EXACT [Orphanet:64692]
synonym: "Carrion disease" EXACT [DOID:0050398, MONDO:0000322, Orphanet:64692]
synonym: "Carrion's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Carrión disease" EXACT [NCIT:C128441]
synonym: "Oroya fever" EXACT [DOID:0050398]
xref: DOID:0050398 {source="MONDO:equivalentTo"}
xref: GARD:18861 {source="MONDO:GARD"}
xref: ICD10CM:A44.0 {source="Orphanet:64692/e", source="Orphanet:64692"}
xref: icd11.foundation:1031219789 {source="MONDO:equivalentTo", source="Orphanet:64692"}
xref: MEDGEN:45234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001474 {source="Orphanet:64692/e", source="Orphanet:64692"}
xref: NCIT:C128441 {source="MONDO:equivalentTo"}
xref: Orphanet:64692 {source="MONDO:equivalentTo"}
xref: Orphanet:659756 {source="MONDO:equivalentTo"}
xref: SCTID:240453002 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:262461007 {source="MONDO:equivalentTo"}
xref: UMLS:C0029307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45234"}
is_a: MONDO:0005113 {source="Orphanet:64692"} ! bacterial infectious disease
is_a: MONDO:0005664 {source="DOID:0050398", source="MONDO:Redundant", source="NCIT:C128441"} ! bartonellosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:774 ! Bartonella bacilliformis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0018985
name: obsolete trench fever
is_obsolete: true
replaced_by: MONDO:0005991

[Term]
id: MONDO:0018986
name: obsolete leiomyosarcoma
is_obsolete: true
replaced_by: MONDO:0005058

[Term]
id: MONDO:0018987
name: granulomatous mastitis
def: "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives." [MESH:D058890]
subset: gard_rare {source="GARD:18863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64722"}
subset: orphanet_rare {source="Orphanet:64722"}
subset: rare
synonym: "granulomatous lobular mastitis" RELATED [GARD:0013119]
synonym: "idiopathic granulomatous lobular mastitis" RELATED [GARD:0013119]
synonym: "idiopathic granulomatous mastitis" EXACT [Orphanet:64722]
xref: GARD:18863 {source="MONDO:GARD"}
xref: ICD10CM:N61 {source="Orphanet:64722/ntbt", source="Orphanet:64722"}
xref: MEDGEN:98343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058890 {source="Orphanet:64722", source="MONDO:equivalentTo", source="Orphanet:64722/e"}
xref: Orphanet:64722 {source="MONDO:equivalentTo"}
xref: SCTID:237444008 {source="MONDO:equivalentTo"}
xref: UMLS:C0405469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98343"}
is_a: MONDO:0002263 {source="MONDO:0015858-obsoleted"} ! female reproductive system disorder

[Term]
id: MONDO:0018988
name: iridocorneal endothelial syndrome
def: "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" [Orphanet:64734]
subset: gard_rare {source="GARD:60", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64734"}
subset: orphanet_rare {source="Orphanet:64734"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ICE syndrome" EXACT [GARD:0000060, Orphanet:64734]
xref: GARD:60 {source="MONDO:GARD"}
xref: ICD10CM:H21.1 {source="Orphanet:64734", source="Orphanet:64734/attributed", source="Orphanet:64734/ntbt"}
xref: MedDRA:10053678 {source="Orphanet:64734", source="Orphanet:64734/e"}
xref: MEDGEN:242751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057129 {source="MONDO:equivalentTo", source="Orphanet:64734", source="Orphanet:64734/e"}
xref: NCIT:C84792 {source="MONDO:equivalentTo"}
xref: Orphanet:64734 {source="MONDO:equivalentTo", source="GARD:0000060"}
xref: SCTID:129623003 {source="MONDO:equivalentTo"}
xref: UMLS:C1096100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:242751"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: disease_has_feature MONDO:0005041 {source="GARD:0000060-text", source="Orphanet:64734", source="https://orcid.org/0000-0002-6601-2165"} ! glaucoma
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C84792", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015120 {source="Orphanet:64734", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare acquired eye disease
relationship: excluded_subClassOf MONDO:0020221 {source="Orphanet:64734", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glaucoma due to a proliferation and differentiation anomaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0018989
name: recurrent acute pancreatitis
def: "Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems." [Orphanet:64740]
xref: ICD10CM:K85.0 {source="Orphanet:64740", source="Orphanet:64740/ntbt"}
xref: ICD10CM:K85.1 {source="Orphanet:64740", source="Orphanet:64740/ntbt"}
xref: ICD10CM:K85.2 {source="Orphanet:64740", source="Orphanet:64740/ntbt"}
xref: ICD10CM:K85.3 {source="Orphanet:64740", source="Orphanet:64740/ntbt"}
xref: ICD10CM:K85.8 {source="Orphanet:64740", source="Orphanet:64740/ntbt"}
xref: ICD10CM:K85.9 {source="Orphanet:64740", source="Orphanet:64740/ntbt"}
xref: MedDRA:10033657 {source="Orphanet:64740", source="Orphanet:64740/e"}
xref: MEDGEN:489943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C184324 {source="MONDO:equivalentTo"}
xref: Orphanet:64740 {source="MONDO:equivalentObsolete"}
xref: SCTID:197458008 {source="MONDO:equivalentTo"}
xref: UMLS:C0267937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:489943"}
is_a: MONDO:0002356 {source="Orphanet:64740"} ! pancreas disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0018990
name: obsolete pulmonary blastoma
is_obsolete: true
replaced_by: MONDO:0005933

[Term]
id: MONDO:0018991
name: hepatoportal sclerosis
def: "Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding." [Orphanet:64743]
subset: gard_rare {source="GARD:18865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:64743"}
subset: rare
synonym: "obliterative portal venopathy" EXACT [Orphanet:64743]
xref: GARD:18865 {source="MONDO:GARD"}
xref: ICD10CM:K74.1 {source="Orphanet:64743/ntbt", source="Orphanet:64743"}
xref: MEDGEN:1391122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:64743 {source="MONDO:equivalentTo"}
xref: SCTID:718096004 {source="MONDO:equivalentTo"}
xref: UMLS:C4476911 {source="MEDGEN:1391122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005154 ! liver disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare

[Term]
id: MONDO:0018992
name: IgG4-related thyroid disease
def: "Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occurring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease." [Orphanet:64744]
subset: gard_rare {source="GARD:18866", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:64744"}
subset: rare
synonym: "Riedel disease" EXACT [Orphanet:64744]
synonym: "Riedel fibrosing thyroiditis" EXACT [DOID:14351]
synonym: "Riedel thyroiditis" EXACT [NCIT:C35827, Orphanet:64744]
synonym: "Riedel's fibrosing thyroiditis" EXACT [MONDO:0001948]
xref: DOID:14351 {source="MONDO:equivalentTo"}
xref: GARD:18866 {source="MONDO:GARD"}
xref: ICD10CM:E06.5 {source="Orphanet:64744/ntbt", source="Orphanet:64744"}
xref: MedDRA:10039142 {source="Orphanet:64744", source="Orphanet:64744/e"}
xref: MEDGEN:509536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35827 {source="DOID:14351", source="MONDO:equivalentTo"}
xref: Orphanet:64744 {source="MONDO:equivalentTo"}
xref: SCTID:89024000 {source="MONDO:equivalentTo"}
xref: UMLS:C0154162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509536"}
is_a: MONDO:0004126 {source="DOID:14351", source="NCIT:C35827"} ! thyroiditis
is_a: MONDO:0017287 {source="Orphanet:64744"} ! IgG4-related disease

[Term]
id: MONDO:0018993
name: Charcot-Marie-Tooth disease type 2
def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." [DOID:0050539, http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm, PMID:25098539]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12431", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:64746"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease" EXACT [Orphanet:64746]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:64746]
synonym: "Charcot-Marie-Tooth type 2" RELATED [GARD:0012431]
synonym: "CMT2" EXACT ABBREVIATION [Orphanet:64746]
synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT [DOID:0050539]
synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [DOID:0050539]
synonym: "hereditary motor and sensory neuropathy type 2" EXACT [DOID:0050539, Orphanet:64746]
xref: DOID:0050539 {source="MONDO:equivalentTo"}
xref: GARD:12431 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:64746/inclusion", source="Orphanet:64746", source="Orphanet:64746/ntbt"}
xref: icd11.foundation:403896648 {source="MONDO:equivalentTo", source="Orphanet:64746", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:356.0 {source="DOID:0050539"}
xref: MEDGEN:124378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200018 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:64746 {source="MONDO:equivalentTo", source="DOID:0050539"}
xref: SCTID:128202008 {source="DOID:0050539"}
xref: SCTID:193158000 {source="DOID:0050539"}
xref: SCTID:193159008 {source="DOID:0050539"}
xref: SCTID:65017003 {source="DOID:0050539"}
xref: SCTID:715665006 {source="MONDO:equivalentTo"}
xref: UMLS:C0270914 {source="MONDO:equivalentTo", source="MEDGEN:124378", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="https://orcid.org/0000-0002-6601-2165"} ! Charcot-Marie-Tooth disease
relationship: excluded_subClassOf MONDO:0015360 {source="Orphanet:64746", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal dominant hereditary axonal motor and sensory neuropathy

[Term]
id: MONDO:0018994
name: Charcot-Marie-Tooth disease type X
def: "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." [https://charcot-marie-toothnews.com/charcot-marie-tooth-type-x-cmtx/, https://www.mda.org/disease/charcot-marie-tooth/types/cmtx]
subset: disease_grouping
subset: gard_rare {source="GARD:12444", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:64747"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMTX" EXACT ABBREVIATION [Orphanet:64747]
synonym: "Cowchock syndrome" RELATED EXCLUDE [DOID:0050542]
synonym: "COWCK" EXACT ABBREVIATION [DOID:0050542]
synonym: "X-linked Charcot-Marie-Tooth disease" RELATED [Orphanet:64747]
synonym: "X-linked hereditary motor and sensory neuropathy" EXACT [Orphanet:64747]
xref: DOID:0050542 {source="MONDO:equivalentTo"}
xref: GARD:12444 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:64747/inclusion", source="Orphanet:64747", source="Orphanet:64747/ntbt"}
xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1637021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:64747 {source="DOID:0050542", source="MONDO:equivalentTo"}
xref: SCTID:230552007 {source="MONDO:equivalentTo"}
xref: UMLS:C4551551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637021"}
is_a: MONDO:0015626 {source="DOID:0050542", source="Orphanet:64747", source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease
intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: excluded_subClassOf MONDO:0015358 {source="Orphanet:64747", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary motor and sensory neuropathy
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:64747", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 {source="https://orcid.org/0000-0002-6601-2165"} ! X-linked inheritance

[Term]
id: MONDO:0018995
name: Charcot-Marie-Tooth disease type 4
def: "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." [Orphanet:64749]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:12440", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:64749"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-CMT1" EXACT [Orphanet:64749]
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth" EXACT [Orphanet:64749]
synonym: "CMT4" EXACT ABBREVIATION [Orphanet:64749]
synonym: "hereditary motor and sensory neuropathy" RELATED EXCLUDE [DOID:0050541]
xref: DOID:0050541 {source="MONDO:equivalentTo"}
xref: GARD:12440 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:64749/inclusion", source="Orphanet:64749/ntbt", source="Orphanet:64749"}
xref: MEDGEN:905419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:64749 {source="DOID:0050541", source="MONDO:equivalentTo"}
xref: SCTID:715795005 {source="MONDO:equivalentTo"}
xref: UMLS:C4082197 {source="MEDGEN:905419", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015626 {source="https://orcid.org/0000-0002-4142-7153"} ! Charcot-Marie-Tooth disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0018996
name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
def: "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." [https://github.com/Orphanet/ORDO/issues/11, Orphanet:64753]
comment: See https://github.com/Orphanet/ORDO/issues/11
subset: gard_rare {source="GARD:12860", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:64753"}
subset: orphanet_rare {source="Orphanet:64753"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AOA2" EXACT ABBREVIATION [OMIM:606002, Orphanet:64753]
synonym: "ataxia with oculomotor apraxia type 2" EXACT [MONDO:0000438]
synonym: "ataxia-ocular apraxia 2" EXACT [OMIM:606002]
synonym: "ataxia-oculomotor apraxia 2" EXACT [OMIM:606002]
synonym: "ataxia-oculomotor apraxia type 2" EXACT [Orphanet:64753]
synonym: "autosomal recessive spinocerebellar ataxia-1" RELATED [GARD:0012860]
synonym: "SCAN 2" EXACT [Orphanet:64753]
synonym: "SCAN2" EXACT ABBREVIATION []
synonym: "SCAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606002, Orphanet:64753]
synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT [Orphanet:64753]
synonym: "spinocerebellar ataxia, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:606002]
synonym: "spinocerebellar ataxia, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:606002]
xref: DOID:0050755 {source="MONDO:equivalentTo"}
xref: GARD:12860 {source="MONDO:GARD"}
xref: ICD10CM:G60.2 {source="Orphanet:64753", source="Orphanet:64753/attributed", source="Orphanet:64753/ntbt"}
xref: MEDGEN:340052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537308 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NCIT:C165500 {source="MONDO:equivalentTo"}
xref: OMIM:606002 {source="Orphanet:64753", source="Orphanet:64753/btnt", source="MONDO:equivalentTo"}
xref: Orphanet:64753 {source="MONDO:equivalentTo"}
xref: SCTID:725408001 {source="MONDO:equivalentTo"}
xref: UMLS:C1853761 {source="MEDGEN:340052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="DOID:0050755", source="MONDO:Redundant", source="Orphanet:64753/inferred"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0020127 {source="Orphanet:64753"} ! hereditary peripheral neuropathy
is_a: MONDO:0020771 {source="OMIM:606002"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/445 {source="MONDO:mim2gene_medgen"} ! SETX

[Term]
id: MONDO:0018997
name: Noonan syndrome
def: "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects." [Orphanet:648]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10955", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1513"}
subset: ordo_disorder {source="Orphanet:648"}
subset: ordo_malformation_syndrome {source="Orphanet:648"}
subset: orphanet_rare {source="Orphanet:648"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Noonan syndrome" EXACT CLINGEN_LABEL [NCIT:C34854]
synonym: "Noonan's syndrome" EXACT [NCIT:C34854]
synonym: "Noonan-Ehmke syndrome" RELATED [GARD:0010955]
synonym: "pseudo-Ullrich-Turner syndrome" RELATED [GARD:0010955]
synonym: "Turner's phenotype, karyotype normal" EXACT [DOID:3490]
synonym: "Ullrich-Noonan syndrome" RELATED [GARD:0010955]
xref: DOID:3490 {source="MONDO:equivalentTo"}
xref: GARD:10955 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:648/inclusion", source="Orphanet:648", source="DOID:3490", source="Orphanet:648/ntbt"}
xref: icd11.foundation:1044395354 {source="MONDO:equivalentTo", source="Orphanet:648"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10029748 {source="Orphanet:648", source="Orphanet:648/e"}
xref: MEDGEN:18073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009634 {source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490", source="Orphanet:648/e"}
xref: NANDO:1200680 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200413 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34854 {source="MONDO:equivalentTo", source="DOID:3490"}
xref: NCIT:C75459 {source="DOID:3490"}
xref: NORD:1513 {source="MONDO:NORD"}
xref: OMIMPS:163950 {source="MONDO:equivalentTo", source="DOID:3490"}
xref: Orphanet:648 {source="MONDO:equivalentTo", source="DOID:3490"}
xref: SCTID:205684007 {source="DOID:3490"}
xref: SCTID:205794007 {source="DOID:3490"}
xref: SCTID:205824006 {source="MONDO:equivalentTo", source="DOID:3490"}
xref: SCTID:88327006 {source="DOID:3490"}
xref: UMLS:C0028326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18073"}
is_a: MONDO:0002254 {source="DOID:3490", source="MONDO:Redundant", source="NCIT:C34854", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0015160 {source="Orphanet:648"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema
is_a: MONDO:0020297 {source="Orphanet:648"} ! Noonan syndrome and Noonan-related syndrome
relationship: excluded_subClassOf MONDO:0021060 {source="Wikipedia:RASopathy", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! RASopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:163950"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0018998
name: Leber congenital amaurosis
def: "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life." [Orphanet:65]
subset: gard_rare {source="GARD:634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1351"}
subset: ordo_disorder {source="Orphanet:65"}
subset: orphanet_rare {source="Orphanet:65"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amaurosis congenita of Leber" EXACT [Orphanet:65]
synonym: "congenital absence of the rods and cones" RELATED [GARD:0000634]
synonym: "congenital retinal blindness" RELATED [GARD:0000634]
synonym: "LCA" EXACT ABBREVIATION [DOID:14791]
synonym: "Leber congenital amaurosis" EXACT CLINGEN_LABEL []
synonym: "Leber's amaurosis" EXACT [DOID:14791]
synonym: "Leber's congenital amaurosis" EXACT [DOID:14791]
synonym: "Leber's congenital tapetoretinal degeneration" RELATED [GARD:0000634]
synonym: "Leber's congenital tapetoretinal dysplasia" RELATED [GARD:0000634]
synonym: "Leber's disease" EXACT [DOID:14791]
xref: DOID:14791 {source="MONDO:equivalentTo"}
xref: GARD:634 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:65", source="Orphanet:65/index", source="Orphanet:65/ntbt", source="MONDO:directSiblingOf"}
xref: MedDRA:10070667 {source="Orphanet:65", source="Orphanet:65/e"}
xref: MEDGEN:137922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057130 {source="Orphanet:65", source="DOID:14791", source="MONDO:equivalentTo", source="Orphanet:65/e"}
xref: NCIT:C129075 {source="MONDO:equivalentTo"}
xref: NORD:1351 {source="MONDO:NORD"}
xref: OMIMPS:204000 {source="DOID:14791", source="MONDO:equivalentTo"}
xref: Orphanet:65 {source="DOID:14791", source="MONDO:equivalentTo"}
xref: SCTID:193413001 {source="DOID:14791", source="MONDO:equivalentTo"}
xref: UMLS:C0339527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137922"}
is_a: MONDO:0005283 {source="DOID:14791", source="MESH:D057130", source="MONDO:Redundant"} ! retinal disorder
is_a: MONDO:0019118 {source="Orphanet:65", source="Orphanet:65/inferred"} ! inherited retinal dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:204000"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0018999
name: LCAT deficiency
def: "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." [Orphanet:650]
subset: gard_rare {source="GARD:16539", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:650"}
subset: orphanet_rare {source="Orphanet:650"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lecithin-cholesterol acyltransferase deficiency" EXACT [Orphanet:650]
xref: GARD:16539 {source="MONDO:GARD"}
xref: ICD10CM:E78.6 {source="Orphanet:650/ntbt", source="Orphanet:650/inclusion", source="Orphanet:650"}
xref: MEDGEN:1830326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200852 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:650 {source="MONDO:equivalentTo"}
xref: SCTID:49227001 {source="MONDO:equivalentTo"}
xref: UMLS:C5779633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830326"}
is_a: MONDO:0017773 {source="Orphanet:650"} ! hypoalphalipoproteinemia
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:650", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0019000
name: perineural cyst
def: "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy." [Orphanet:65250]
subset: gard_rare {source="GARD:9258", source="MONDO:GARD"}
subset: rare
synonym: "perineural cysts" RELATED [GARD:0009258]
synonym: "sacral neural cysts" RELATED [GARD:0009258]
synonym: "sacral perineural cysts" RELATED [GARD:0009258]
synonym: "sacral Tarlov cysts" RELATED [GARD:0009258]
synonym: "Tarlov cyst" EXACT [Orphanet:65250]
synonym: "Tarlov cysts" RELATED [GARD:0009258]
xref: GARD:9258 {source="MONDO:GARD"}
xref: ICD10CM:G54.8 {source="Orphanet:65250/ntbt", source="Orphanet:65250"}
xref: MEDGEN:105457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052958 {source="MONDO:equivalentTo"}
xref: Orphanet:65250 {source="MONDO:equivalentTo"}
xref: SCTID:81634008 {source="MONDO:equivalentTo"}
xref: UMLS:C0520720 {source="MEDGEN:105457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="Orphanet:65250"} ! nervous system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0019001
name: obsolete biotin-responsive basal ganglia disease
is_obsolete: true
replaced_by: MONDO:0011841

[Term]
id: MONDO:0019002
name: Lhermitte-Duclos disease
def: "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." [Orphanet:65285]
subset: gard_rare {source="GARD:6901", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65285"}
subset: orphanet_rare {source="Orphanet:65285"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysplastic cerebellar gangliocytoma" EXACT [NCIT:C8419]
synonym: "dysplastic gangliocytoma of cerebellum" EXACT [NCIT:C8419]
synonym: "dysplastic gangliocytoma of the cerebellum" EXACT [Orphanet:65285]
synonym: "LDD" EXACT ABBREVIATION [Orphanet:65285]
xref: GARD:6901 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:65285/attributed", source="Orphanet:65285/ntbt", source="Orphanet:65285"}
xref: ICDO:9493/0 {source="NCIT:C8419"}
xref: MEDGEN:140251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8419 {source="MONDO:equivalentTo"}
xref: Orphanet:65285 {source="MONDO:equivalentTo"}
xref: UMLS:C0391826 {source="MONDO:equivalentTo", source="MEDGEN:140251", source="MONDO:MEDGEN"}
is_a: MONDO:0016729 {source="NCIT:C8419/inferred", source="Orphanet:65285"} ! mixed neuronal-glial tumor
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation

[Term]
id: MONDO:0019003
name: multiple endocrine neoplasia type 2
def: "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)." [Orphanet:653]
subset: gard_rare {source="GARD:3830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1467"}
subset: ordo_disorder {source="Orphanet:653"}
subset: orphanet_rare {source="Orphanet:653"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEN2" EXACT ABBREVIATION [Orphanet:653]
synonym: "multiple endocrine neoplasia type 2" EXACT [NCIT:C123329]
xref: GARD:3830 {source="MONDO:GARD"}
xref: ICD10CM:D44.8 {source="Orphanet:653", source="Orphanet:653/attributed", source="Orphanet:653/ntbt"}
xref: ICD9:194.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:258.02 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10028191 {source="Orphanet:653", source="Orphanet:653/e"}
xref: MEDGEN:887211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200406 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123329 {source="MONDO:equivalentTo"}
xref: NORD:1467 {source="MONDO:NORD"}
xref: Orphanet:653 {source="MONDO:equivalentTo"}
xref: SCTID:61808009 {source="MONDO:equivalentTo"}
xref: UMLS:C4048306 {source="MEDGEN:887211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015075 {source="MONDO:Entailed", source="Orphanet:653"} ! thyroid gland carcinoma
is_a: MONDO:0017169 {source="NCIT:C123329", source="Orphanet:653"} ! multiple endocrine neoplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2" xsd:anyURI {source="GARD:0003830"}

[Term]
id: MONDO:0019004
name: kidney Wilms tumor
def: "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver." [NCIT:C40407]
subset: gard_rare {source="GARD:7892", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1855"}
subset: ordo_disorder {source="Orphanet:654"}
subset: orphanet_rare {source="Orphanet:654"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult nephroblastoma" NARROW [DOID:2154]
synonym: "adult renal Wilms' tumor" NARROW EXCLUDE [DOID:2154]
synonym: "adult renal Wilms' tumour" NARROW OMO:0003005 []
synonym: "childhood renal Wilms tumor" NARROW [DOID:2154]
synonym: "childhood renal Wilms tumour" NARROW OMO:0003005 []
synonym: "childhood renal Wilms' cancer" NARROW [DOID:2154]
synonym: "embryonal nephroma" NARROW [NCIT:C40407]
synonym: "kidney Wilms tumor" EXACT [NCIT:C40407]
synonym: "nephroblastoma" EXACT [NCIT:C40407]
synonym: "nephroblastoma, malignant" EXACT [NCIT:C40407]
synonym: "nonanaplastic renal Wilm's tumor" NARROW [DOID:5176]
synonym: "nonanaplastic renal Wilm's tumour" NARROW OMO:0003005 []
synonym: "renal embryonic tumor" EXACT [Orphanet:654]
synonym: "renal embryonic tumour" EXACT OMO:0003005 []
synonym: "renal Wilms tumor" EXACT [NCIT:C40407]
synonym: "renal Wilms tumour" EXACT OMO:0003005 []
synonym: "renal Wilms' tumor" EXACT [NCIT:C40407]
synonym: "renal Wilms' tumour" EXACT OMO:0003005 []
synonym: "Wilms tumor" BROAD [Orphanet:654]
synonym: "Wilms tumor of the kidney" EXACT [NCIT:C40407]
synonym: "Wilms tumour" BROAD OMO:0003005 []
synonym: "Wilms tumour of the kidney" EXACT OMO:0003005 []
synonym: "Wilms' Tumor" EXACT [NORD:1855]
synonym: "Wilms' tumor" BROAD [NCIT:C40407]
synonym: "Wilms' tumor of the kidney" EXACT [NCIT:C40407]
synonym: "Wilms' tumour" BROAD OMO:0003005 []
synonym: "Wilms' tumour of the kidney" EXACT OMO:0003005 []
xref: DOID:2154 {source="MONDO:equivalentTo"}
xref: DOID:5176 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:7892 {source="MONDO:GARD"}
xref: ICD10CM:C64 {source="Orphanet:654", source="Orphanet:654/index", source="Orphanet:654/ntbt"}
xref: ICDO:8960/3 {source="NCIT:C40407"}
xref: MedDRA:10029145 {source="Orphanet:654", source="Orphanet:654/e"}
xref: MESH:D009396 {source="Orphanet:654", source="Orphanet:654/e"}
xref: NANDO:2200043 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C40407 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: NORD:1855 {source="MONDO:NORD"}
xref: ONCOTREE:WT {source="MONDO:equivalentTo"}
xref: Orphanet:654 {source="MONDO:equivalentTo"}
xref: SCTID:302849000 {source="MONDO:equivalentTo"}
is_a: MONDO:0006058 {source="NCIT:C40407"} ! Wilms tumor
is_a: MONDO:0006295 {source="DOID:2154/inferred", source="DOID:5176/inferred", source="MONDO:Redundant", source="NCIT:C40407/inferred"} ! malignant urinary system neoplasm
is_a: MONDO:0021163 {source="MONDO:Entailed", source="Orphanet:654"} ! kidney neoplasm
relationship: excluded_subClassOf MONDO:0015963 {source="Orphanet:654", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited renal tumor
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0019005
name: nephronophthisis
def: "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." [NCIT:P378]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:655"}
subset: orphanet_rare {source="Orphanet:655"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "medullary cystic disease" EXACT [DOID:12712]
synonym: "medullary cystic kidney" EXACT [DOID:12712, ICD9CM:753.16]
synonym: "nephronophthisis" EXACT [MONDO:ambiguous]
synonym: "nephronophthisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:12712 {source="MONDO:equivalentTo"}
xref: GARD:206 {source="MONDO:GARD"}
xref: HP:0000090 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q61.5 {source="Orphanet:655/attributed", source="Orphanet:655/ntbt", source="DOID:12712", source="Orphanet:655"}
xref: icd11.foundation:158151813 {source="Orphanet:655", source="MONDO:equivalentTo"}
xref: MEDGEN:146912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201036 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100015 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200140 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200170 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123200 {source="DOID:12712", source="MONDO:equivalentTo"}
xref: OMIMPS:256100 {source="DOID:12712", source="MONDO:equivalentTo"}
xref: Orphanet:655 {source="DOID:12712", source="MONDO:equivalentTo", source="GARD:0000206"}
xref: SCTID:204958008 {source="DOID:12712"}
xref: SCTID:204961009 {source="DOID:12712"}
xref: UMLS:C0687120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146912"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0006025 {source="DOID:12712", source="MONDO:Redundant"} ! autosomal recessive disease
is_a: MONDO:0015962 {source="Orphanet:655"} ! inherited renal tubular disease
relationship: has_characteristic HP:0000007 {source="Orphanet:655"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256100"} ! inherited
property_value: IAO:0000589 "nephronophthisis (disease)" xsd:string

[Term]
id: MONDO:0019006
name: familial idiopathic steroid-resistant nephrotic syndrome
def: "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." [Orphanet:656]
subset: gard_rare {source="GARD:3946", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656"}
subset: orphanet_rare {source="Orphanet:656"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial idiopathic nephrotic syndrome" EXACT [Orphanet:656]
xref: GARD:3946 {source="MONDO:GARD"}
xref: ICD10CM:N04.1 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"}
xref: ICD10CM:N04.3 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"}
xref: ICD10CM:N04.8 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"}
xref: MEDGEN:902527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:656 {source="MONDO:equivalentTo"}
xref: SCTID:718141008 {source="MONDO:equivalentTo"}
xref: UMLS:C4273714 {source="MEDGEN:902527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018170 {source="MONDO:Redundant", source="Orphanet:656"} ! idiopathic nephrotic syndrome
intersection_of: MONDO:0018170 ! idiopathic nephrotic syndrome
intersection_of: MONDO:0044765 ! steroid-resistant nephrotic syndrome
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0019007
name: vaginal atresia
subset: gard_rare {source="GARD:18867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65681"}
subset: ordo_morphological_anomaly {source="Orphanet:65681"}
subset: orphanet_rare {source="Orphanet:65681"}
subset: rare
xref: GARD:18867 {source="MONDO:GARD"}
xref: HP:0000148 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q52.0 {source="Orphanet:65681/ntbt", source="Orphanet:65681"}
xref: icd11.foundation:1126562070 {source="MONDO:equivalentTo", source="Orphanet:65681", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10046879 {source="Orphanet:65681/e", source="Orphanet:65681"}
xref: MEDGEN:232948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:65681 {source="MONDO:equivalentTo"}
xref: UMLS:C1321884 {source="MEDGEN:232948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="MONDO:0015847-obsoleted"} ! female reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019008
name: benign recurrent intrahepatic cholestasis
def: "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC)." [Orphanet:65682]
subset: gard_rare {source="GARD:12185", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65682"}
subset: orphanet_rare {source="Orphanet:65682"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bric" EXACT [Orphanet:65682]
synonym: "cholestasis, benign recurrent intrahepatic" EXACT [OMIMPS:243300]
synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [Orphanet:65682]
xref: DOID:0070230 {source="MONDO:equivalentTo"}
xref: GARD:12185 {source="MONDO:GARD"}
xref: ICD10CM:K83.1 {source="Orphanet:65682/attributed", source="Orphanet:65682/ntbt", source="Orphanet:65682"}
xref: icd11.foundation:288945286 {source="MONDO:equivalentTo", source="Orphanet:65682"}
xref: MEDGEN:57703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:243300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:65682 {source="MONDO:equivalentTo"}
xref: SCTID:31155007 {source="MONDO:equivalentTo"}
xref: UMLS:C0149841 {source="MEDGEN:57703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017290 {source="MONDO:Redundant", source="Orphanet:65682"} ! familial intrahepatic cholestasis
is_a: MONDO:0017755 {source="Orphanet:65682"} ! inborn disorder of bilirubin metabolism
is_a: MONDO:0019072 {source="MONDO:Redundant", source="MONDO:indirect"} ! intrahepatic cholestasis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:243300"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis" xsd:anyURI {source="GARD:0012185"}

[Term]
id: MONDO:0019009
name: isolated focal cortical dysplasia
def: "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." [Orphanet:65683]
subset: gard_rare {source="GARD:16671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:65683"}
subset: orphanet_rare {source="Orphanet:65683"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy due to FCD" EXACT [Orphanet:65683]
xref: GARD:16671 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:65683/attributed", source="Orphanet:65683/ntbt", source="Orphanet:65683"}
xref: MEDGEN:1645432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200564 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:65683 {source="MONDO:equivalentTo"}
xref: SCTID:766710005 {source="MONDO:equivalentTo"}
xref: UMLS:C4707795 {source="MONDO:equivalentTo", source="MEDGEN:1645432", source="MONDO:MEDGEN"}
is_a: MONDO:0017094 {source="Orphanet:65683"} ! cerebral cortical dysplasia
is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

[Term]
id: MONDO:0019010
name: congenital isolated hyperinsulinism
def: "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism." [Orphanet:657]
subset: disease_grouping
subset: gard_rare {source="GARD:3947", source="MONDO:GARD"}
subset: nord_rare {source="NORD:999", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:657"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chi" EXACT [Orphanet:657]
synonym: "Congenital Hyperinsulinism" EXACT [NORD:999]
synonym: "congenital hyperinsulinism" RELATED [GARD:0003947]
synonym: "hyperinsulinemic hypoglycemia familial" RELATED [GARD:0003947]
synonym: "hyperinsulinism congenital" RELATED [GARD:0003947]
synonym: "hyperinsulinism familial with pancreatic nesidioblastosis" RELATED [GARD:0003947]
synonym: "hypoglycemia hyperinsulinemic of infancy" RELATED [GARD:0003947]
synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [Orphanet:657]
synonym: "PHHI" EXACT ABBREVIATION [Orphanet:657]
xref: GARD:3947 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:657/attributed", source="Orphanet:657/ntbt", source="Orphanet:657"}
xref: MESH:D044903 {source="Orphanet:657", source="Orphanet:657/e"}
xref: NCIT:C122923 {source="MONDO:equivalentTo"}
xref: NORD:999 {source="MONDO:NORD"}
xref: Orphanet:657 {source="MONDO:equivalentTo"}
is_a: MONDO:0007834 {source="NCIT:C122923"} ! islet cell adenomatosis
is_a: MONDO:0017182 {source="Orphanet:657"} ! familial hyperinsulinism
is_a: MONDO:0019716 {source="Orphanet:657"} ! overgrowth syndrome

[Term]
id: MONDO:0019011
name: Charcot-Marie-Tooth disease type 1
def: "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity." [Orphanet:65753]
subset: disease_grouping
subset: gard_rare {source="GARD:12433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:65753"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant demyelinating Charcot-Marie-Tooth disease" EXACT [Orphanet:65753]
synonym: "Charcot-Marie-Tooth neuropathy type 1" EXACT [Orphanet:65753]
synonym: "Charcot-Marie-Tooth type 1" RELATED [GARD:0012433]
synonym: "CMT1" EXACT ABBREVIATION [Orphanet:65753]
synonym: "hereditary motor and sensory neuropathy type 1" EXACT [DOID:0050538, Orphanet:65753]
xref: DOID:0050538 {source="MONDO:equivalentTo"}
xref: GARD:12433 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:65753/ntbt", source="Orphanet:65753", source="Orphanet:65753/inclusion"}
xref: MEDGEN:155486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200017 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:65753 {source="MONDO:equivalentTo"}
xref: SCTID:398040009 {source="MONDO:equivalentTo"}
xref: UMLS:C0751036 {source="MONDO:equivalentTo", source="MEDGEN:155486", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015626 {source="https://orcid.org/0000-0002-4142-7153"} ! Charcot-Marie-Tooth disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019012
name: Carpenter syndrome
def: "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." [NCIT:C98873]
subset: gard_rare {source="GARD:6003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:897"}
subset: ordo_disorder {source="Orphanet:65759"}
subset: ordo_malformation_syndrome {source="Orphanet:65759"}
subset: orphanet_rare {source="Orphanet:65759"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACPS2" EXACT ABBREVIATION [Orphanet:65759]
synonym: "acrocephalopolysyndactyly type 2" EXACT [Orphanet:65759]
synonym: "acrocephalopolysyndactyly type II" EXACT [DOID:0060234, NCIT:C98873]
synonym: "acrocephalosyndactyly, type II" RELATED [GARD:0006003]
synonym: "Carpenter 's syndrome" EXACT [NCIT:C98873]
synonym: "Carpenter syndrome" EXACT [NCIT:C98873]
synonym: "type II Acrocephalopolysyndactyly" EXACT [NCIT:C98873]
xref: DOID:0060234 {source="MONDO:equivalentTo"}
xref: GARD:6003 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:65759", source="Orphanet:65759/index", source="Orphanet:65759/ntbt"}
xref: MEDGEN:226897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563187 {source="DOID:0060234"}
xref: NANDO:2200847 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98873 {source="DOID:0060234", source="MONDO:equivalentTo"}
xref: NORD:897 {source="MONDO:NORD"}
xref: OMIMPS:201000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:65759 {source="DOID:0060234", source="MONDO:equivalentTo"}
xref: SCTID:205813009 {source="DOID:0060234"}
xref: SCTID:403767009 {source="DOID:0060234", source="MONDO:equivalentTo"}
xref: SCTID:74263009 {source="DOID:0060234"}
xref: SCTID:83728000 {source="MONDO:relatedTo", source="DOID:0060234"}
xref: UMLS:C1275078 {source="MEDGEN:226897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000078 {source="Wikipedia:Carpenter_syndrome"} ! acrocephalopolysyndactyly
is_a: MONDO:0015160 {source="Orphanet:65759"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019796 {source="DOID:0060234", source="NCIT:C98873", source="Orphanet:65759"} ! acrocephalosyndactyly
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:201000"} ! inherited

[Term]
id: MONDO:0019013
name: non-histaminic angioedema
def: "Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." [Orphanet:658]
subset: disease_grouping
subset: gard_rare {source="GARD:18701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:658"}
subset: rare
synonym: "angioneurotic edema" EXACT [Orphanet:658]
synonym: "angioneurotic oedema" EXACT OMO:0003005 []
synonym: "bradykinine-induced angioedema" EXACT [Orphanet:658]
synonym: "non histamine-induced angioedema" EXACT [Orphanet:658]
xref: GARD:18701 {source="MONDO:GARD"}
xref: ICD9:995.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:658 {source="MONDO:equivalentTo"}
xref: SCTID:41291007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005271 {source="MONDO:Redundant", source="Orphanet:658"} ! allergic disease
is_a: MONDO:0010481 {source="https://orcid.org/0000-0001-5208-3432"} ! angioedema
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020027"} ! rare

[Term]
id: MONDO:0019014
name: obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques
comment: Split this term to create new OMIMPS and child.
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2758" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100296

[Term]
id: MONDO:0019015
name: omphalocele
def: "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac." [Orphanet:660]
subset: gard_rare {source="GARD:16540", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:660"}
subset: ordo_morphological_anomaly {source="Orphanet:660"}
subset: orphanet_rare {source="Orphanet:660"}
subset: rare
synonym: "congenital omphalocele" EXACT [NCIT:C98997]
synonym: "eventration" BROAD [NCIT:C98997]
synonym: "exomphalos" EXACT [NCIT:C98997]
synonym: "omphalocele" EXACT [MONDO:ambiguous]
synonym: "omphalocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "omphalocoele" EXACT [DOID:0060327]
xref: DOID:0060327 {source="MONDO:equivalentTo"}
xref: GARD:16540 {source="MONDO:GARD"}
xref: HP:0001539 {source="MONDO:otherHierarchy", source="DOID:0060327"}
xref: ICD10CM:Q79.2 {source="DOID:0060327", source="Orphanet:660/ntbt", source="Orphanet:660"}
xref: icd11.foundation:1168696429 {source="MONDO:equivalentTo", source="Orphanet:660"}
xref: ICD9:756.72 {source="DOID:0060327"}
xref: MedDRA:10030308 {source="Orphanet:660/e", source="Orphanet:660"}
xref: MEDGEN:162756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006554 {source="MONDO:relatedTo", source="DOID:0060327"}
xref: NCIT:C98997 {source="MONDO:equivalentTo", source="DOID:0060327"}
xref: Orphanet:660 {source="MONDO:equivalentTo"}
xref: SCTID:157007005 {source="DOID:0060327"}
xref: SCTID:18735004 {source="MONDO:equivalentTo", source="DOID:0060327"}
xref: SCTID:196854005 {source="DOID:0060327"}
xref: SCTID:196872004 {source="DOID:0060327"}
xref: SCTID:205516007 {source="DOID:0060327"}
xref: SCTID:271017007 {source="DOID:0060327"}
xref: SCTID:396347007 {source="MONDO:relatedTo", source="DOID:0060327"}
xref: SCTID:49324006 {source="DOID:0060327"}
xref: SCTID:5867007 {source="DOID:0060327"}
xref: UMLS:C0795690 {source="MEDGEN:162756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100298 {source="https://orcid.org/0000-0001-5208-3432"} ! abdominal wall malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI
property_value: IAO:0000589 "omphalocele (disease)" xsd:string

[Term]
id: MONDO:0019016
name: maternally-inherited progressive external ophthalmoplegia
subset: gard_rare {source="GARD:16479", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:663"}
subset: orphanet_rare {source="Orphanet:663"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternally-inherited chronic progressive external ophthalmoplegia" EXACT [Orphanet:663]
synonym: "maternally-inherited CPEO" EXACT [Orphanet:663]
xref: GARD:16479 {source="MONDO:GARD"}
xref: ICD10CM:H49.4 {source="Orphanet:663/specific", source="Orphanet:663/e", source="MONDO:directSiblingOf", source="Orphanet:663"}
xref: Orphanet:663 {source="MONDO:equivalentTo"}
is_a: MONDO:0009637 {source="Orphanet:663"} ! inborn mitochondrial myopathy
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0024458 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of visual system
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0019017
name: short fifth metacarpals-insulin resistance syndrome
def: "A syndrome is characterized by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." [https://orcid.org/0000-0001-5208-3432, Orphanet:66518]
subset: gard_rare {source="GARD:18868", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66518"}
subset: orphanet_rare {source="Orphanet:66518"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18868 {source="MONDO:GARD"}
xref: ICD10CM:E13 {source="Orphanet:66518", source="Orphanet:66518/attributed", source="Orphanet:66518/ntbt"}
xref: MEDGEN:929290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:66518 {source="MONDO:equivalentTo"}
xref: UMLS:C4303621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929290"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI

[Term]
id: MONDO:0019018
name: Tako-tsubo cardiomyopathy
def: "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers." [Orphanet:66529]
subset: gard_rare {source="GARD:9400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2006"}
subset: ordo_disorder {source="Orphanet:66529"}
subset: orphanet_rare {source="Orphanet:66529"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute stress cardiomyopathy" RELATED [GARD:0009400]
synonym: "ampulla cardiomyopathy" EXACT [Orphanet:66529]
synonym: "apical ballooning syndrome" EXACT [Orphanet:66529]
synonym: "ASC" RELATED ABBREVIATION [GARD:0009400]
synonym: "ballooning cardiomyopathy" EXACT [Orphanet:66529]
synonym: "broken heart syndrome" EXACT [Orphanet:66529]
synonym: "broken-heart syndrome" RELATED [GARD:0009400]
synonym: "left ventricular transient apical ballooning" RELATED [GARD:0009400]
synonym: "stress cardiomyopathy" EXACT [Orphanet:66529]
synonym: "stress-induced cardiomyopathy" RELATED [GARD:0009400]
synonym: "Tako tsubo syndrome" RELATED [GARD:0009400]
synonym: "Tako-Tsubo syndrome" EXACT [Orphanet:66529]
synonym: "Takotsubo Cardiomyopathy" EXACT [NORD:2006]
synonym: "Takotsubo cardiomyopathy" EXACT [Orphanet:66529]
synonym: "Takotsubo syndrome" EXACT [Orphanet:66529]
synonym: "transient antero-apical dyskinesia" RELATED [GARD:0009400]
synonym: "transient left ventricular apical ballooning syndrome" EXACT [Orphanet:66529]
xref: EFO:1002000 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9400 {source="MONDO:GARD"}
xref: ICD10CM:I42.8 {source="Orphanet:66529", source="Orphanet:66529/ntbt"}
xref: icd11.foundation:478139552 {source="MONDO:equivalentTo", source="Orphanet:66529", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:429.83 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:366029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054549 {source="MONDO:equivalentTo"}
xref: NCIT:C85181 {source="MONDO:equivalentTo"}
xref: NORD:2006 {source="MONDO:NORD"}
xref: Orphanet:66529 {source="MONDO:equivalentTo"}
xref: SCTID:441541008 {source="MONDO:equivalentTo"}
xref: UMLS:C1739395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:366029"}
is_a: MONDO:0004994 {source="EFO:1002000", source="MONDO:Redundant", source="NCIT:C85181", source="Orphanet:66529/inferred"} ! cardiomyopathy

[Term]
id: MONDO:0019019
name: osteogenesis imperfecta
def: "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." [Orphanet:666]
subset: gard_rare {source="GARD:1017", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1535"}
subset: ordo_disorder {source="Orphanet:666"}
subset: orphanet_rare {source="Orphanet:666"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brittle bone disease" EXACT [DOID:12347, Orphanet:666]
synonym: "Fragilitas ossium" RELATED [DOID:12347]
synonym: "glass bone disease" EXACT [Orphanet:666]
synonym: "Lobstein disease" EXACT [Orphanet:666]
synonym: "Lobstein's syndrome" EXACT [DOID:12347]
synonym: "OI" EXACT ABBREVIATION [Orphanet:666]
synonym: "Osteopsathyrosis" EXACT [DOID:12347, Orphanet:666]
synonym: "Porak and Durante disease" EXACT [Orphanet:666]
synonym: "Vrolik disease" RELATED [GARD:0001017]
synonym: "Vrolik's disease" EXACT [DOID:12347]
xref: DOID:12347 {source="MONDO:equivalentTo"}
xref: GARD:1017 {source="MONDO:GARD"}
xref: ICD10CM:Q78.0 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e", source="Orphanet:666/specific"}
xref: icd11.foundation:1219932551 {source="Orphanet:666", source="MONDO:equivalentTo"}
xref: ICD9:756.51 {source="DOID:12347", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10031243 {source="Orphanet:666", source="Orphanet:666/e"}
xref: MEDGEN:45246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010013 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e"}
xref: NANDO:1200873 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201011 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26837 {source="DOID:12347", source="MONDO:equivalentTo"}
xref: NCIT:C99003 {source="DOID:12347"}
xref: NORD:1535 {source="MONDO:NORD"}
xref: OMIMPS:166200 {source="DOID:12347", source="MONDO:equivalentTo"}
xref: Orphanet:666 {source="DOID:12347", source="MONDO:equivalentTo"}
xref: SCTID:157008000 {source="DOID:12347"}
xref: SCTID:205492005 {source="DOID:12347"}
xref: SCTID:205493000 {source="DOID:12347"}
xref: SCTID:205494006 {source="DOID:12347"}
xref: SCTID:205498009 {source="DOID:12347"}
xref: SCTID:254105005 {source="DOID:12347"}
xref: SCTID:254106006 {source="DOID:12347"}
xref: SCTID:254107002 {source="DOID:12347"}
xref: SCTID:254108007 {source="DOID:12347"}
xref: SCTID:254109004 {source="DOID:12347"}
xref: SCTID:268352002 {source="DOID:12347"}
xref: SCTID:3508009 {source="DOID:12347"}
xref: SCTID:385482004 {source="DOID:12347"}
xref: SCTID:78314001 {source="DOID:12347", source="MONDO:equivalentTo"}
xref: UMLS:C0029434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45246"}
is_a: MONDO:0005516 {source="DOID:12347", source="MESH:D010013"} ! osteochondrodysplasia
relationship: disease_has_feature HP:0004349 {source="Orphanet:666"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:666", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:166200"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta" xsd:anyURI {source="GARD:0001017"}

[Term]
id: MONDO:0019020
name: PANDAS
def: "PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders." [Orphanet:66624]
subset: gard_rare {source="GARD:7312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66624"}
subset: orphanet_rare {source="Orphanet:66624"}
subset: rare
synonym: "paediatric autoimmune disorders associated with Streptococcus infections" EXACT OMO:0003005 []
synonym: "paediatric autoimmune neuropsychiatric disorder associated with Streptococcus" RELATED OMO:0003005 []
synonym: "paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections" RELATED OMO:0003005 []
synonym: "paediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections" EXACT OMO:0003005 []
synonym: "pediatric autoimmune disorders associated with Streptococcus infections" EXACT [Orphanet:66624]
synonym: "pediatric autoimmune neuropsychiatric disorder associated with Streptococcus" RELATED [GARD:0007312]
synonym: "pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections" RELATED [GARD:0007312]
synonym: "pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections" EXACT [Orphanet:66624]
xref: GARD:7312 {source="MONDO:GARD"}
xref: MEDGEN:419798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537163 {source="MONDO:equivalentTo"}
xref: Orphanet:66624 {source="MONDO:equivalentTo"}
xref: UMLS:C2931429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419798"}
is_a: MONDO:0002977 {source="https://github.com/monarch-initiative/mondo/issues/3067", source="https://orcid.org/0000-0002-0736-9199"} ! autoimmune disorder of the nervous system
relationship: excluded_subClassOf MONDO:0017647 {source="Orphanet:66624", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete postinfectious autoimmune disease with chorea

[Term]
id: MONDO:0019021
name: obsolete pigmented villonodular synovitis
is_obsolete: true
replaced_by: MONDO:0006906

[Term]
id: MONDO:0019022
name: sensorineural hearing loss-early graying-essential tremor syndrome
def: "Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor." [Orphanet:66633]
subset: gard_rare {source="GARD:18869", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66633"}
subset: ordo_malformation_syndrome {source="Orphanet:66633"}
subset: orphanet_rare {source="Orphanet:66633"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18869 {source="MONDO:GARD"}
xref: MEDGEN:1389497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:66633 {source="MONDO:equivalentTo"}
xref: UMLS:C4510044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1389497"}
is_a: MONDO:0005395 {source="Orphanet:66633"} ! movement disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017644"} ! rare

[Term]
id: MONDO:0019023
name: cutaneous mastocytosis
def: "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis." [Orphanet:66646]
subset: disease_grouping
subset: gard_rare {source="GARD:7842", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:66646"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CM" EXACT ABBREVIATION [DOID:3663, NCIT:C7137]
synonym: "CMCD" RELATED ABBREVIATION [ONCOTREE:CMCD]
synonym: "cutaneous (skin) mastocytosis" EXACT [NCIT:C7137]
synonym: "cutaneous mastocytosis" EXACT [MONDO:ambiguous, NCIT:C7137]
synonym: "cutaneous mastocytosis (disease)" EXACT [MONDO:0002723]
synonym: "mastocytosis, cutaneous" EXACT [OMIM:154800, OMIM:genemap2]
synonym: "mastocytosis, systemic, somatic" EXACT [OMIM:154800, OMIM:genemap2]
xref: DOID:3663 {source="MONDO:equivalentTo"}
xref: EFO:1000886 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7842 {source="MONDO:GARD"}
xref: HP:0200151 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q82.2 {source="Orphanet:66646", source="Orphanet:66646/e"}
xref: icd11.foundation:1300710062 {source="Orphanet:66646", source="MONDO:equivalentTo"}
xref: ICDO:9740/1 {source="NCIT:C7137"}
xref: MEDGEN:210143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034701 {source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="Orphanet:66646/e"}
xref: NCIT:C7137 {source="DOID:3663", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: OMIM:154800 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CMCD {source="MONDO:equivalentTo"}
xref: Orphanet:66646 {source="MONDO:equivalentTo"}
xref: SCTID:397012002 {source="DOID:3663", source="MONDO:equivalentTo"}
xref: SCTID:703827008 {source="DOID:3663"}
xref: UMLS:C1136033 {source="MEDGEN:210143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002300 {source="MONDO:Entailed", source="NCIT:C7137"} ! dermis tumor
is_a: MONDO:0005492 {source="Orphanet:66646"} ! urticaria
is_a: MONDO:0007950 {source="DOID:3663", source="MESH:D034701", source="NCIT:C7137", source="ONCOTREE:CMCD", source="Orphanet:66646"} ! mastocytosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019298"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0019024
name: mast cell sarcoma
def: "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" [NCIT:C9348]
subset: gard_rare {source="GARD:18870", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66661"}
subset: orphanet_rare {source="Orphanet:66661"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mast cell sarcoma" EXACT [MONDO:0006296, MONDO:patterns/location]
synonym: "mast-cell sarcoma" EXACT [MONDO:0002686]
synonym: "MCS" EXACT ABBREVIATION [NCIT:C9348]
synonym: "MCSL" RELATED ABBREVIATION [ONCOTREE:MCSL]
synonym: "sarcoma of mast cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:355 {source="MONDO:equivalentTo"}
xref: EFO:1000364 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18870 {source="MONDO:GARD"}
xref: ICD10CM:C96.2 {source="Orphanet:66661/ntbt", source="Orphanet:66661", source="DOID:355"}
xref: icd11.foundation:233404891 {source="MONDO:equivalentTo", source="Orphanet:66661"}
xref: ICD9:202.6 {source="DOID:355"}
xref: ICDO:9740/3 {source="NCIT:C9348"}
xref: MEDGEN:11322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012515 {source="Orphanet:66661/e", source="MONDO:equivalentTo", source="Orphanet:66661", source="DOID:355"}
xref: NCIT:C9348 {source="MONDO:0021036", source="EFO:1000364", source="MONDO:equivalentTo", source="DOID:355"}
xref: ONCOTREE:MCSL {source="MONDO:equivalentTo"}
xref: Orphanet:66661 {source="MONDO:equivalentTo"}
xref: SCTID:118615008 {source="MONDO:equivalentTo", source="DOID:355"}
xref: SCTID:13583002 {source="DOID:355"}
xref: SCTID:188660004 {source="DOID:355"}
xref: SCTID:188661000 {source="DOID:355"}
xref: SCTID:188670002 {source="DOID:355"}
xref: SCTID:307591004 {source="DOID:355"}
xref: SCTID:397010005 {source="DOID:355"}
xref: UMLS:C0036221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11322"}
is_a: MONDO:0005089 {source="DOID:355", source="EFO:1000364", source="MONDO:Redundant"} ! sarcoma
is_a: MONDO:0007950 {source="MESH:D012515", source="NCIT:C9348/inferred", source="ONCOTREE:MCSL", source="Orphanet:66661"} ! mastocytosis
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location CL:0000097 ! mast cell

[Term]
id: MONDO:0019025
name: extracutaneous mastocytoma
def: "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003" [NCIT:C7136]
subset: gard_rare {source="GARD:18871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66662"}
subset: orphanet_rare {source="Orphanet:66662"}
subset: rare
synonym: "extracutaneous mastocytoma" EXACT [DOID:4659, NCIT:C7136]
xref: DOID:4659 {source="MONDO:equivalentTo", source="EFO:1000932"}
xref: GARD:18871 {source="MONDO:GARD"}
xref: ICD10CM:C96.2 {source="Orphanet:66662/ntbt", source="Orphanet:66662"}
xref: icd11.foundation:29932455 {source="MONDO:equivalentTo", source="Orphanet:66662"}
xref: ICDO:9740/1 {source="NCIT:C7136"}
xref: MEDGEN:75774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034801 {source="DOID:4659", source="EFO:1000932"}
xref: NCIT:C7136 {source="MONDO:equivalentTo", source="DOID:4659", source="MONDO:exact-label-match", source="EFO:1000932"}
xref: Orphanet:66662 {source="MONDO:equivalentTo"}
xref: SCTID:63175003 {source="MONDO:equivalentTo", source="DOID:4659", source="EFO:1000932"}
xref: UMLS:C0272202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75774"}
is_a: MONDO:0002724 {source="DOID:4659", source="MONDO:Redundant", source="NCIT:C7136/inferred"} ! mast cell neoplasm
is_a: MONDO:0003079 {source="NCIT:C7136"} ! mastocytoma
is_a: MONDO:0016586 {source="DOID:4659"} ! systemic mastocytosis

[Term]
id: MONDO:0019026
name: autosomal recessive osteopetrosis
def: "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." [NCIT:C129733]
subset: gard_rare {source="GARD:15012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:667"}
subset: ordo_malformation_syndrome {source="Orphanet:667"}
subset: orphanet_rare {source="Orphanet:667"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive malignant osteopetrosis" EXACT [Orphanet:667]
synonym: "autosomal recessive osteopetrosis" EXACT [NCIT:C129733]
synonym: "autosomal recessive osteopetrosis (disease)" EXACT []
synonym: "infantile malignant osteopetrosis" EXACT [Orphanet:667]
synonym: "malignant osteopetrosis" RELATED [NCIT:C129733]
synonym: "OPTB" EXACT ABBREVIATION []
synonym: "osteopetrosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:15012 {source="MONDO:GARD"}
xref: ICD10CM:Q78.2 {source="Orphanet:667", source="Orphanet:667/attributed", source="Orphanet:667/ntbt"}
xref: MEDGEN:1385510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129733 {source="MONDO:equivalentTo"}
xref: OMIMPS:259700 {source="MONDO:equivalentTo"}
xref: Orphanet:667 {source="MONDO:equivalentTo"}
xref: SCTID:367489004 {source="MONDO:equivalentTo"}
xref: UMLS:C4272578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385510"}
is_a: MONDO:0017198 {source="NCIT:C129733", source="Orphanet:667"} ! osteopetrosis
is_a: MONDO:0020249 {source="Orphanet:667", source="Orphanet:667/inferred"} ! hereditary optic neuropathy
intersection_of: MONDO:0017198 ! osteopetrosis
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:259700"} ! inherited

[Term]
id: MONDO:0019027
name: otopalatodigital syndrome
def: "A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." [https://orcid.org/0000-0001-5208-3432, Orphanet:669]
subset: gard_rare {source="GARD:7293", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:669"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "oto-palatal-digital syndrome" EXACT [GARD:0007293]
synonym: "oto-palato-digital syndrome" EXACT []
synonym: "Taybi syndrome" RELATED EXCLUDE [Orphanet:669]
synonym: "type 2 (Andre syndrome)" NARROW [GARD:0007293]
xref: GARD:7293 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:669/ntbt", source="Orphanet:669", source="Orphanet:669/index"}
xref: MEDGEN:1843451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:669 {source="MONDO:equivalentObsolete"}
xref: SCTID:767130007 {source="MONDO:equivalentTo"}
xref: UMLS:C5779873 {source="MEDGEN:1843451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018233 {source="Orphanet:669"} ! otopalatodigital syndrome spectrum disorder
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:669", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015334 {source="Orphanet:669", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete branchial arch or oral-acral syndrome
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:669", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:669", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0019028
name: amoebiasis due to Entamoeba histolytica
def: "A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare." [Orphanet:67]
subset: gard_rare {source="GARD:18675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67"}
subset: orphanet_rare {source="Orphanet:67"}
subset: rare
xref: GARD:18675 {source="MONDO:GARD"}
xref: ICD10CM:A06.0 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.1 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.2 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.3 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.4 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.5 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.6 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.7 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.8 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: ICD10CM:A06.9 {source="Orphanet:67", source="Orphanet:67/btnt"}
xref: MEDGEN:443898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531613 {source="Orphanet:67", source="MONDO:equivalentTo", source="Orphanet:67/e"}
xref: Orphanet:67 {source="MONDO:equivalentTo"}
xref: UMLS:C2930799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443898"}
is_a: MONDO:0005135 {source="Orphanet:67"} ! parasitic infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0019029
name: segmental odontomaxillary dysplasia
def: "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur." [Orphanet:67039]
subset: gard_rare {source="GARD:18872", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67039"}
subset: orphanet_rare {source="Orphanet:67039"}
subset: rare
synonym: "SOD" EXACT ABBREVIATION [Orphanet:67039]
xref: GARD:18872 {source="MONDO:GARD"}
xref: ICD10CM:K00.4 {source="Orphanet:67039", source="Orphanet:67039/ntbt"}
xref: ICD9:524.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:785795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200561 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:67039 {source="MONDO:equivalentTo"}
xref: SCTID:699756005 {source="MONDO:equivalentTo"}
xref: UMLS:C3698531 {source="MEDGEN:785795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005497 {source="MONDO:0015603-obsoleted", source="https://orcid.org/0000-0002-4142-7153"} ! bone development disease

[Term]
id: MONDO:0019030
name: obsolete Acanthamoeba keratitis
is_obsolete: true
replaced_by: MONDO:0005629

[Term]
id: MONDO:0019031
name: thrombocytopenia with congenital dyserythropoietic anemia
def: "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." [Orphanet:67044]
subset: gard_rare {source="GARD:16676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:67044"}
subset: orphanet_rare {source="Orphanet:67044"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital dyserythropoietic anaemia with thombocytopenia" EXACT OMO:0003005 []
synonym: "congenital dyserythropoietic anemia with thombocytopenia" EXACT [Orphanet:67044]
synonym: "X-linked congenital dyserythropoietic anaemia with thrombocytopenia" EXACT OMO:0003005 []
synonym: "X-linked congenital dyserythropoietic anemia with thrombocytopenia" EXACT [Orphanet:67044]
synonym: "XDAT" EXACT ABBREVIATION [Orphanet:67044]
xref: GARD:16676 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="Orphanet:67044", source="Orphanet:67044/attributed", source="Orphanet:67044/ntbt"}
xref: MEDGEN:928177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:67044 {source="MONDO:equivalentTo"}
xref: SCTID:722475006 {source="MONDO:equivalentTo"}
xref: UMLS:C4302508 {source="MEDGEN:928177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010308 ! thrombocytopenia, X-linked, with or without dyserythropoietic anemia
is_a: MONDO:0019403 {source="Orphanet:67044"} ! congenital dyserythropoietic anemia
is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia

[Term]
id: MONDO:0019032
name: X-linked intellectual disability with isolated growth hormone deficiency
subset: gard_rare {source="GARD:16677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:67045"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MRGH" EXACT ABBREVIATION [Orphanet:67045]
xref: GARD:16677 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:67045/attributed", source="Orphanet:67045/ntbt", source="Orphanet:67045"}
xref: MEDGEN:341145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:67045 {source="MONDO:equivalentTo"}
xref: UMLS:C1848068 {source="MEDGEN:341145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="Orphanet:67045", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019033
name: primary cutis verticis gyrata
def: "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." [Orphanet:671]
subset: disease_grouping
subset: gard_rare {source="GARD:1643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:671"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cutis verticis gyrata" EXACT []
xref: GARD:1643 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:671/ntbt", source="Orphanet:671"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:671 {source="GARD:0001643", source="MONDO:equivalentTo"}
xref: SCTID:51603000 {source="MONDO:equivalentTo"}
xref: UMLS:C0263417 {source="MEDGEN:78095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021154 {source="Orphanet:671"} ! dermis disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata" xsd:anyURI {source="GARD:0001643"}

[Term]
id: MONDO:0019034
name: accessory pancreas
def: "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen." [Orphanet:674]
subset: gard_rare {source="GARD:454", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:674"}
subset: ordo_morphological_anomaly {source="Orphanet:674"}
subset: orphanet_rare {source="Orphanet:674"}
subset: rare
synonym: "pancreas accessorium" RELATED [GARD:0000454]
xref: GARD:454 {source="MONDO:GARD"}
xref: ICD10CM:Q45.3 {source="Orphanet:674/ntbt", source="Orphanet:674/inclusion", source="Orphanet:674"}
xref: icd11.foundation:240534435 {source="MONDO:equivalentTo", source="Orphanet:674"}
xref: MEDGEN:82737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536003 {source="Orphanet:674/e", source="MONDO:equivalentTo", source="Orphanet:674"}
xref: Orphanet:674 {source="MONDO:equivalentTo"}
xref: SCTID:79037006 {source="MONDO:equivalentTo"}
xref: UMLS:C0266268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82737"}
is_a: MONDO:0002356 {source="https://orcid.org/0000-0002-4142-7153"} ! pancreas disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas" xsd:anyURI {source="GARD:0000454"}

[Term]
id: MONDO:0019035
name: pancreatoblastoma
def: "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests." [Orphanet:677]
subset: gard_rare {source="GARD:4210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:677"}
subset: orphanet_rare {source="Orphanet:677"}
subset: rare
synonym: "pancreatoblastoma (morphologic abnormality)" EXACT [DOID:6823]
synonym: "PB" RELATED ABBREVIATION [ONCOTREE:PB]
xref: DOID:6823 {source="MONDO:equivalentTo"}
xref: GARD:4210 {source="MONDO:GARD"}
xref: ICD10CM:C25.1 {source="Orphanet:677/ntbt", source="Orphanet:677"}
xref: MEDGEN:87250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537162 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="Orphanet:677/e"}
xref: NANDO:2200082 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4265 {source="MONDO:equivalentTo", source="DOID:6823"}
xref: ONCOTREE:PB {source="MONDO:equivalentTo"}
xref: Orphanet:677 {source="MONDO:equivalentTo"}
xref: SCTID:189814006 {source="DOID:6823"}
xref: SCTID:53618008 {source="DOID:6823"}
xref: UMLS:C0334489 {source="MEDGEN:87250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002116 {source="NCIT:C4265"} ! malignant exocrine pancreas neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma" xsd:anyURI {source="GARD:0004210"}

[Term]
id: MONDO:0019036
name: amoebiasis due to free-living amoebae
def: "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units." [https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae]
subset: gard_rare {source="GARD:12650", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:68"}
subset: orphanet_rare {source="Orphanet:68"}
subset: rare
xref: GARD:12650 {source="MONDO:GARD"}
xref: ICD10CM:B60.1 {source="Orphanet:68/btnt", source="Orphanet:68"}
xref: ICD10CM:B60.2 {source="Orphanet:68/btnt", source="Orphanet:68"}
xref: MEDGEN:509253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:68 {source="MONDO:equivalentTo"}
xref: UMLS:C0153326 {source="MEDGEN:509253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="Orphanet:68"} ! parasitic infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae" xsd:anyURI {source="GARD:0012650"}

[Term]
id: MONDO:0019037
name: progressive supranuclear palsy
def: "A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." [https://orcid.org/0000-0001-5208-3432, Orphanet:683]
subset: gard_rare {source="GARD:7471", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1619", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:683"}
subset: orphanet_rare {source="Orphanet:683"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial progressive supranuclear palsy (type)" RELATED [GARD:0007471]
synonym: "progressive supranuclear ophthalmoplegia" EXACT [DOID:678]
synonym: "PSP syndrome" EXACT [Orphanet:683]
synonym: "Steele-Richardson-Olszewski disease" EXACT [https://orcid.org/0000-0002-1780-5230]
synonym: "Steele-Richardson-Olszewski syndrome" EXACT [DOID:678]
synonym: "supranuclear palsy, progressive" RELATED [GARD:0007471]
xref: DOID:678 {source="MONDO:equivalentTo"}
xref: GARD:7471 {source="MONDO:GARD"}
xref: ICD10CM:G23.1 {source="Orphanet:683/e", source="DOID:678", source="Orphanet:683/specific", source="Orphanet:683"}
xref: icd11.foundation:1493396558 {source="MONDO:equivalentTo", source="Orphanet:683"}
xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10036813 {source="Orphanet:683/e", source="Orphanet:683"}
xref: MEDGEN:21026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013494 {source="Orphanet:683/e", source="DOID:678", source="MONDO:equivalentTo", source="Orphanet:683"}
xref: NANDO:1200009 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85028 {source="DOID:678", source="MONDO:equivalentTo"}
xref: NORD:1619 {source="MONDO:NORD"}
xref: OMIMPS:601104 {source="MONDO:equivalentTo"}
xref: Orphanet:683 {source="DOID:678", source="MONDO:equivalentTo"}
xref: SCTID:192975003 {source="DOID:678"}
xref: SCTID:192976002 {source="DOID:678", source="MONDO:equivalentTo"}
xref: SCTID:28978003 {source="DOID:678", source="MONDO:relatedTo"}
xref: UMLS:C0038868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21026"}
is_a: MONDO:0002254 {source="NCIT:C85028"} ! syndromic disease
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0005559 {source="MESH:D013494/inferred", source="MONDO:Redundant", source="NCIT:C85028", source="Orphanet:683/inferred"} ! neurodegenerative disease
is_a: MONDO:0020257 {source="Orphanet:683"} ! supranuclear oculomotor palsy
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: disease_has_feature HP:0002145 ! Frontotemporal dementia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0015547 {source="Orphanet:683", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary dementia
relationship: excluded_subClassOf MONDO:0024237 {source="Orphanet:683", source="https://orcid.org/0000-0001-5208-3432"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601104"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3100" xsd:anyURI

[Term]
id: MONDO:0019038
name: obsolete rare maxillo-facial surgical disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68329"}
synonym: "rare maxillofacial anomaly" EXACT [Orphanet:68329]
xref: GARD:22507 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68329 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019039
name: obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68334"}
synonym: "rare bleeding disorder due to a constitutional coagulation factors defect" EXACT [Orphanet:68334]
synonym: "rare coagulopathy due to a constitutional coagulation factors defect" EXACT [Orphanet:68334]
xref: GARD:18873 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68334 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019040
name: chromosomal disorder
def: "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" [MESH:D025063]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68335"}
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "autosomal chromosome disorder" RELATED [MESH:D025063]
synonym: "autosomal chromosome disorders" RELATED [MESH:D025063]
synonym: "chromosomal anomaly" RELATED EXCLUDE []
synonym: "chromosomal disease" EXACT [MONDO:0000838]
synonym: "chromosomal disorder" EXACT [MESH:D025063]
synonym: "chromosomal disorders" EXACT [MESH:D025063]
synonym: "chromosome abnormality disorder" RELATED [MESH:D025063]
synonym: "chromosome abnormality disorders" RELATED [MESH:D025063]
synonym: "chromosome disorder" EXACT [MESH:D025063]
synonym: "chromosome disorder, autosomal" RELATED [MESH:D025063]
synonym: "chromosome disorders, autosomal" RELATED [MESH:D025063]
synonym: "disorder, chromosomal" EXACT [MESH:D025063]
synonym: "disorder, chromosome" EXACT [MESH:D025063]
synonym: "disorder, chromosome abnormality" RELATED [MESH:D025063]
synonym: "disorders, chromosomal" EXACT [MESH:D025063]
synonym: "disorders, chromosome" EXACT [MESH:D025063]
xref: DOID:0080014 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q00-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:Q90-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002869 {source="Orphanet:68335/e", source="Orphanet:68335"}
xref: MESH:D025063 {source="MONDO:equivalentTo"}
xref: NANDO:1100014 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100279 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100280 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34470 {source="MONDO:equivalentTo"}
xref: Orphanet:68335 {source="MONDO:equivalentTo"}
xref: SCTID:409709004 {source="MONDO:equivalentTo"}
xref: UMLS:C0008626 {source="MEDGEN:3441", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700096 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! human disease
relationship: excluded_subClassOf MONDO:0003847 {source="DOID:0080014", source="MESH:D025063", source="NCIT:C34470", source="Orphanet:68335", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0019755 {source="Orphanet:68335", source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0021198"} ! rare

[Term]
id: MONDO:0019041
name: obsolete rare genetic inherited tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68336"}
synonym: "rare genetic tumor" RELATED [Orphanet:68336]
xref: GARD:18875 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68336 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0019042
name: multiple congenital anomalies/dysmorphic syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:18876", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:68341"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MCAHS" RELATED ABBREVIATION [MONDO:Lexical]
xref: GARD:18876 {source="MONDO:GARD"}
xref: MEDGEN:1843247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:68341 {source="MONDO:equivalentTo"}
xref: UMLS:C5681310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843247"}
is_a: MONDO:0019755 {source="Orphanet:68341"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019043
name: obsolete rare genetic skin disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68346"}
synonym: "rare genodermatosis" EXACT [Orphanet:68346]
xref: GARD:18877 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68346 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005093

[Term]
id: MONDO:0019044
name: obsolete tumor of hematopoietic and lymphoid tissues
subset: ordo_group_of_disorders {source="Orphanet:68347"}
xref: GARD:18878 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68347 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019045
name: obsolete rare sleep disorder
def: "OBSOLETE. A rare form of sleep disorder." [https://orcid.org/0000-0002-6601-2165]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68354"}
synonym: "rare sleep disorder" EXACT [MONDO:patterns/rare]
synonym: "rare sleep wake disorder" EXACT [MONDO:patterns/rare]
synonym: "rare sleep-wake disorder" EXACT [MONDO:patterns/rare]
xref: GARD:18879 {source="MONDO:obsoleteEquivalent"}
xref: MedDRA:10040984 {source="Orphanet:68354/e", source="Orphanet:68354"}
xref: MESH:D012893 {source="MONDO:relatedTo", source="Orphanet:68354/e", source="Orphanet:68354"}
xref: Orphanet:68354 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003406

[Term]
id: MONDO:0019046
name: leukodystrophy
def: "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." [https://rarediseases.org/rare-diseases/leukodystrophy/]
comment: Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy'
subset: disease_grouping
subset: gard_rare {source="GARD:6895", source="MONDO:GARD"}
subset: merged_class
subset: nord_rare {source="MONDO:NORD", source="NORD:1367"}
subset: ordo_group_of_disorders {source="Orphanet:68356"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLD" EXACT ABBREVIATION [DOID:0060786]
synonym: "hypomyelinating leukodystrophy" EXACT [MONDO:0000825]
synonym: "hypomyelinating leukoencephalopathy" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "leukodystrophy, hypomyelinating" RELATED [OMIMPS:312080]
xref: DOID:0050987 {source="MONDO:equivalentTo"}
xref: DOID:0060786 {source="MONDO:equivalentTo"}
xref: DOID:10579 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:6895 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:68356/index", source="Orphanet:68356/ntbt", source="Orphanet:68356"}
xref: icd11.foundation:468040251 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:68356"}
xref: ICD9:330.0 {source="DOID:10579", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10024381 {source="Orphanet:68356/e", source="Orphanet:68356"}
xref: MEDGEN:6070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200575 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200836 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61253 {source="DOID:10579", source="MONDO:equivalentTo"}
xref: NORD:1367 {source="MONDO:NORD"}
xref: OMIMPS:312080 {source="MONDO:equivalentTo", source="DOID:0060786"}
xref: Orphanet:68356 {source="MONDO:equivalentTo"}
xref: SCTID:192781003 {source="DOID:10579", source="MONDO:equivalentTo"}
xref: SCTID:192785007 {source="DOID:10579"}
xref: SCTID:5101009 {source="DOID:10579"}
xref: UMLS:C0023520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6070"}
is_a: MONDO:0005071 {source="MONDO:Redundant", source="Orphanet:68356"} ! nervous system disorder
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1519", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
relationship: disease_has_major_feature HP:0003429 ! CNS hypomyelination
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:312080"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy" xsd:anyURI {source="GARD:0006895"}

[Term]
id: MONDO:0019047
name: obsolete rare deafness
def: "OBSOLETE. Any of the forms of hearing loss that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68361"}
synonym: "complete deafness" EXACT [NCIT:C36194]
synonym: "rare hearing loss" EXACT [MONDO:patterns/rare]
synonym: "total deafness" EXACT [NCIT:C36194]
xref: GARD:18880 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C36194 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68361 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005365

[Term]
id: MONDO:0019048
name: obsolete rare vascular disease
def: "OBSOLETE. Any of the forms of vascular disease that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68362"}
synonym: "rare vascular disease" EXACT [MONDO:patterns/rare]
xref: GARD:18881 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68362 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005385

[Term]
id: MONDO:0019049
name: obsolete rare dystonia
def: "OBSOLETE. Rare dystonia." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68363"}
synonym: "rare dystonia" EXACT []
synonym: "rare dystonia (disease)" EXACT [MONDO:patterns/rare]
synonym: "rare dystonic disorder" EXACT [MONDO:patterns/rare, Orphanet:68363]
xref: GARD:18882 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68363 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003441

[Term]
id: MONDO:0019050
name: inherited hemoglobinopathy
def: "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." [NCIT:C3092]
subset: disease_grouping
subset: gard_rare {source="GARD:18883", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:68364"}
subset: rare
synonym: "hemoglobinopathies" EXACT [DOID:2860]
synonym: "Hemoglobinopathies / iron metabolism" EXACT [NCIT:C3092]
synonym: "hemoglobinopathy" RELATED [DOID:2860]
synonym: "hereditary hemoglobinopathy" EXACT [MONDO:patterns/hereditary]
xref: DOID:2860 {source="MONDO:equivalentTo"}
xref: GARD:18883 {source="MONDO:GARD"}
xref: ICD10CM:D56.0 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D56.1 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D56.2 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D56.3 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D56.4 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D56.8 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D56.9 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D57.0 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D57.1 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D57.2 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D57.3 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D57.8 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D58.0 {source="MONDO:relatedTo", source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D58.1 {source="MONDO:relatedTo", source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D58.2 {source="DOID:2860", source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D58.8 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD10CM:D58.9 {source="Orphanet:68364", source="Orphanet:68364/btnt"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10060892 {source="Orphanet:68364/e", source="Orphanet:68364"}
xref: MESH:D006453 {source="Orphanet:68364/e", source="DOID:2860", source="MONDO:equivalentTo", source="Orphanet:68364"}
xref: NCIT:C3092 {source="DOID:2860", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:68364 {source="MONDO:equivalentTo"}
xref: SCTID:154794008 {source="DOID:2860"}
xref: SCTID:267556002 {source="DOID:2860"}
xref: SCTID:427306008 {source="MONDO:equivalentTo"}
xref: SCTID:80141007 {source="DOID:2860"}
is_a: MONDO:0044348 {source="MONDO:Redundant"} ! hemoglobinopathy
intersection_of: MONDO:0044348 ! hemoglobinopathy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0003689 {source="DOID:2860", source="https://orcid.org/0000-0001-5208-3432"} ! familial hemolytic anemia

[Term]
id: MONDO:0019051
name: obsolete lysosomal disease
is_obsolete: true
replaced_by: MONDO:0002561

[Term]
id: MONDO:0019052
name: inborn errors of metabolism
def: "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function." [https://github.com/monarch-initiative/mondo/issues/1483, https://orcid.org/0000-0002-6601-2165, NCIT:C34816]
comment: Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1
subset: disease_grouping
subset: gard_rare {source="GARD:22508", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:68367"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital metabolic disorder" EXACT [NCIT:C34816]
synonym: "congenital metabolism disorder" EXACT [NCIT:C34816]
synonym: "hereditary metabolic disease" EXACT [MONDO:patterns/hereditary]
synonym: "inborn disorders of metabolism" EXACT [https://orcid.org/0000-0001-6330-7526]
synonym: "inborn error of metabolism" EXACT [NCIT:C34816]
synonym: "inborn errors of metabolism" EXACT CLINGEN_LABEL [DOID:655, NCIT:C34816]
synonym: "inborn metabolic disorder" EXACT [https://orcid.org/0000-0001-6330-7526]
synonym: "inborn metabolism disorder" EXACT [DOID:655]
synonym: "inherited disorder of metabolism" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "inherited disorders of metabolism" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "inherited metabolic disorder" EXACT [MONDO:0003919]
synonym: "metabolic hereditary disorder" EXACT [DOID:655]
synonym: "rare inborn errors of metabolism" NARROW [Orphanet:68367]
synonym: "rare inherited metabolic disorder" NARROW []
synonym: "rare metabolic disease" RELATED [Orphanet:68367]
xref: DOID:655 {source="MONDO:equivalentTo"}
xref: GARD:22508 {source="MONDO:GARD"}
xref: MedDRA:10058097 {source="Orphanet:68367/e", source="Orphanet:68367"}
xref: MedDRA:10062018 {source="Orphanet:68367/e", source="Orphanet:68367"}
xref: MEDGEN:6323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008659 {source="Orphanet:68367/e", source="Orphanet:68367"}
xref: MESH:D008661 {source="DOID:655", source="Orphanet:68367/e", source="MONDO:equivalentTo", source="Orphanet:68367"}
xref: NANDO:2100159 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34816 {source="DOID:655", source="MONDO:equivalentTo"}
xref: Orphanet:68367 {source="MONDO:equivalentTo"}
xref: SCTID:363205007 {source="DOID:655"}
xref: SCTID:86095007 {source="DOID:655", source="MONDO:equivalentTo"}
xref: UMLS:C0025521 {source="MEDGEN:6323", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:D008661", source="MONDO:Redundant", source="Orphanet:68367"} ! hereditary disease
is_a: MONDO:0005066 {source="DOID:655", source="MESH:D008661", source="MONDO:Redundant", source="NCIT:C34816"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1483" xsd:anyURI

[Term]
id: MONDO:0019053
name: peroxisomal disease
def: "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia." [https://clinicalgenome.org/affiliation/40049/, NCIT:C85005]
subset: disease_grouping
subset: gard_rare {source="GARD:18885", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:68373"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of peroxisomal function" EXACT [NCIT:C85005]
synonym: "peroxisomal disease" EXACT CLINGEN_LABEL [NCIT:C85005]
synonym: "peroxisomal disorder" EXACT [DOID:906, ICD9CM:277.86, NCIT:C85005]
synonym: "peroxisomal function disorder" EXACT [NCIT:C85005]
xref: DOID:906 {source="MONDO:equivalentTo"}
xref: GARD:18885 {source="MONDO:GARD"}
xref: ICD10CM:E71.5 {source="DOID:906"}
xref: ICD10CM:E71.50 {source="DOID:906"}
xref: icd11.foundation:782299726 {source="MONDO:equivalentTo", source="Orphanet:68373", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:277.86 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:906"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:129185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018901 {source="Orphanet:68373", source="DOID:906", source="Orphanet:68373/e"}
xref: NANDO:1200758 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100166 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85005 {source="MONDO:equivalentTo", source="DOID:906"}
xref: Orphanet:68373 {source="MONDO:equivalentTo"}
xref: SCTID:238059005 {source="MONDO:equivalentTo", source="DOID:906"}
xref: UMLS:C0282528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:129185"}
is_a: MONDO:0019052 {source="DOID:906", source="MONDO:Redundant", source="NCIT:C85005", source="Orphanet:68373"} ! inborn errors of metabolism
is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_dysfunction_of GO:0005777 ! peroxisome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5786" xsd:anyURI

[Term]
id: MONDO:0019054
name: congenital limb malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68378"}
synonym: "congenital limb malformation" EXACT CLINGEN_LABEL []
xref: Orphanet:68378 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:68378"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019055
name: obsolete mitochondrial disease
is_obsolete: true
replaced_by: MONDO:0004069

[Term]
id: MONDO:0019056
name: neuromuscular disease
def: "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" [Wikipedia:Neuromuscular_disease]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68381"}
subset: otar {source="MONDO:OTAR"}
synonym: "nerve and muscle disorder" EXACT [ISBN-13:978-1-259-64403-0]
synonym: "neuromuscular disease" EXACT [MONDO:0002986]
xref: DOID:440 {source="MONDO:equivalentTo"}
xref: EFO:1001902 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G70-G73 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G70.9 {source="DOID:440"}
xref: ICD9:358 {source="DOID:440"}
xref: ICD9:358.9 {source="DOID:440"}
xref: MedDRA:10029323 {source="Orphanet:68381", source="Orphanet:68381/e"}
xref: MEDGEN:10323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009468 {source="MONDO:equivalentTo", source="Orphanet:68381", source="DOID:440", source="Orphanet:68381/e"}
xref: NANDO:1100001 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100214 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:68381 {source="MONDO:equivalentTo"}
xref: SCTID:1664005 {source="DOID:440"}
xref: SCTID:193218007 {source="DOID:440"}
xref: SCTID:255522009 {source="DOID:440"}
xref: SCTID:257277002 {source="DOID:440"}
xref: UMLS:C0027868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10323"}
is_a: MONDO:0005071 {source="ISBN-13:978-1-259-64403-0"} ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: disease_disrupts GO:0050905 ! neuromuscular process

[Term]
id: MONDO:0019057
name: obsolete rare constitutional aplastic anemia
is_obsolete: true
replaced_by: MONDO:0001713

[Term]
id: MONDO:0019058
name: obsolete neurometabolic disease
subset: ordo_group_of_disorders {source="Orphanet:68385"}
xref: GARD:18890 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68385 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginProcess"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0005071

[Term]
id: MONDO:0019059
name: obsolete rare parkinsonian disorder
def: "OBSOLETE. Rare parkinsonian disorder." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68402"}
synonym: "rare hypokinetic movement disorder" EXACT [Orphanet:68402]
synonym: "rare parkinsonian disorder" EXACT [MONDO:patterns/rare]
xref: GARD:18891 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68402 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021095

[Term]
id: MONDO:0019060
name: bone neoplasm
def: "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage." [NCIT:C9343]
subset: disease_grouping
subset: gard_rare {source="GARD:18892", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:68411"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone neoplasm" EXACT [NCIT:C9343]
synonym: "bone neoplasms" EXACT [NCIT:C9343]
synonym: "bone tissue neoplasm" EXACT []
synonym: "bone tissue tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "bone tissue tumour" EXACT OMO:0003005 []
synonym: "bone tumor" EXACT [NCIT:C9343]
synonym: "bone tumors" EXACT [NCIT:C9343]
synonym: "bone tumour" EXACT OMO:0003005 []
synonym: "bone tumours" EXACT OMO:0003005 []
synonym: "neoplasm of bone" EXACT [NCIT:C9343]
synonym: "neoplasm of bone tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the bone" EXACT [NCIT:C9343]
synonym: "osseous neoplasm" EXACT [NCIT:C9343]
synonym: "osseous tumor" EXACT [NCIT:C9343]
synonym: "osseous tumour" EXACT OMO:0003005 []
synonym: "primary bone cancer" RELATED [GARD:0013223]
synonym: "primary malignant neoplasm of bone" RELATED [GARD:0013223]
synonym: "rare bone tumor" RELATED [Orphanet:68411]
synonym: "rare bone tumour" RELATED OMO:0003005 []
synonym: "tumor of bone" EXACT [NCIT:C9343]
synonym: "tumor of bone tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the bone" EXACT [NCIT:C9343]
synonym: "tumour of bone" EXACT OMO:0003005 []
synonym: "tumour of bone tissue" EXACT OMO:0003005 []
synonym: "tumour of the bone" EXACT OMO:0003005 []
xref: EFO:0003820 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18892 {source="MONDO:GARD"}
xref: ICD10CM:C40-C41 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:488993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12366 {source="ONCOTREE:BONE"}
xref: NCIT:C9343 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BONE {source="MONDO:equivalentTo"}
xref: Orphanet:68411 {source="MONDO:equivalentTo"}
xref: UMLS:C2732838 {source="MEDGEN:488993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="NCIT:C9343"} ! connective tissue disorder
is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:68411"} ! neoplasm
is_a: MONDO:0005381 {source="MONDO:Redundant", source="Orphanet:68411"} ! bone disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002481 ! bone tissue
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019684", source="MONDO:0020031"} ! rare

[Term]
id: MONDO:0019061
name: obsolete rare parathyroid disease and phosphocalcic metabolism anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68415"}
xref: GARD:18893 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68415 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019062
name: obsolete rare infectious disease
def: "OBSOLETE. Rare infectious disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:68416"}
synonym: "rare infectious disease" EXACT [MONDO:patterns/rare]
xref: GARD:22509 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68416 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005550

[Term]
id: MONDO:0019063
name: obsolete vascular anomaly
subset: ordo_group_of_disorders {source="Orphanet:68419"}
subset: otar {source="MONDO:OTAR"}
synonym: "vascular anomaly or angioma" RELATED [Orphanet:68419]
xref: GARD:18894 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:68419 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0019755 {source="Orphanet:68419", source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0020015 {source="Orphanet:68419", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare circulatory system disease
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019064
name: hereditary spastic paraplegia
def: "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." [Orphanet:685]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:6637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1238"}
subset: ordo_group_of_disorders {source="Orphanet:685"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial spastic paraparesis" RELATED [GARD:0006637]
synonym: "familial spastic paraplegia" EXACT [DOID:2476, Orphanet:685]
synonym: "French settlement disease" EXACT [DOID:2476]
synonym: "FSP" RELATED ABBREVIATION [GARD:0006637]
synonym: "hereditary spastic paraparesis" EXACT [DOID:2476, Orphanet:685]
synonym: "HSP" EXACT ABBREVIATION [Orphanet:685]
synonym: "spastic paraplegia" BROAD [OMIMPS:303350]
synonym: "SPG" EXACT ABBREVIATION [Orphanet:685]
synonym: "Strumpell-Lorrain disease" EXACT [DOID:2476]
synonym: "Strümpell-Lorrain disease" EXACT [Orphanet:685]
xref: DOID:2476 {source="MONDO:equivalentTo"}
xref: GARD:6637 {source="MONDO:GARD"}
xref: ICD10CM:G11.4 {source="Orphanet:685/specific", source="Orphanet:685/e", source="DOID:2476", source="MONDO:equivalentTo", source="Orphanet:685"}
xref: icd11.foundation:810807375 {source="MONDO:equivalentTo", source="Orphanet:685"}
xref: ICD9:334.1 {source="DOID:2476", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10019903 {source="Orphanet:685/e", source="Orphanet:685"}
xref: MEDGEN:20844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015419 {source="MONDO:equivalentTo"}
xref: NANDO:1200052 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C140267 {source="MONDO:equivalentTo"}
xref: NORD:1238 {source="MONDO:NORD"}
xref: OMIMPS:303350 {source="DOID:2476", source="MONDO:equivalentTo"}
xref: Orphanet:685 {source="MONDO:equivalentTo"}
xref: SCTID:155013000 {source="DOID:2476"}
xref: SCTID:267692008 {source="DOID:2476"}
xref: SCTID:39912006 {source="DOID:2476", source="MONDO:equivalentTo"}
xref: SCTID:76043009 {source="DOID:2476"}
xref: UMLS:C0037773 {source="MEDGEN:20844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003757 {source="DOID:2476"} ! paraplegia
is_a: MONDO:0005559 {source="MESH:D015419/inferred", source="MONDO:Redundant", source="NCIT:C140267", source="Orphanet:685/inferred"} ! neurodegenerative disease
is_a: MONDO:0024237 {source="Orphanet:685"} ! inherited neurodegenerative disorder
is_a: MONDO:0100546 {source="PMID:27575431"} ! hereditary neuromuscular disease
relationship: disease_has_feature HP:0001257 ! Spasticity
relationship: disease_has_feature HP:0010550 ! Paraplegia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:303350"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5952" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia" xsd:anyURI {source="GARD:0006637"}

[Term]
id: MONDO:0019065
name: amyloidosis
def: "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." [NCIT:C2868]
subset: disease_grouping
subset: gard_rare {source="GARD:18676", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:69"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloid" EXACT [NCIT:C2868]
synonym: "amyloid disease" EXACT [DOID:9120]
synonym: "amyloidoses" EXACT [MESH:D000686]
synonym: "amyloidosis" EXACT [MONDO:ambiguous]
synonym: "amyloidosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0004711]
xref: DOID:9120 {source="MONDO:equivalentTo"}
xref: EFO:1001875 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18676 {source="MONDO:GARD"}
xref: HP:0011034 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E85 {source="DOID:9120"}
xref: ICD10CM:E85.0 {source="Orphanet:69/btnt", source="Orphanet:69"}
xref: ICD10CM:E85.1 {source="Orphanet:69/btnt", source="Orphanet:69"}
xref: ICD10CM:E85.2 {source="Orphanet:69/btnt", source="Orphanet:69"}
xref: ICD10CM:E85.3 {source="Orphanet:69/btnt", source="Orphanet:69"}
xref: ICD10CM:E85.4 {source="Orphanet:69/btnt", source="Orphanet:69"}
xref: ICD10CM:E85.8 {source="Orphanet:69/btnt", source="Orphanet:69"}
xref: ICD10CM:E85.9 {source="Orphanet:69/btnt", source="Orphanet:69", source="DOID:9120"}
xref: icd11.foundation:2078467774 {source="Orphanet:69", source="MONDO:equivalentTo"}
xref: ICD9:277.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9120"}
xref: ICD9:277.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9120"}
xref: MedDRA:10002022 {source="Orphanet:69", source="Orphanet:69/e"}
xref: MEDGEN:272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000686 {source="Orphanet:69", source="MONDO:equivalentTo", source="DOID:9120", source="Orphanet:69/e"}
xref: NANDO:2200138 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C2868 {source="MONDO:equivalentTo", source="DOID:9120"}
xref: ONCOTREE:MIDDA {source="MONDO:equivalentTo"}
xref: Orphanet:69 {source="MONDO:equivalentTo"}
xref: SCTID:154769007 {source="DOID:9120"}
xref: SCTID:17602002 {source="MONDO:equivalentTo", source="DOID:9120"}
xref: SCTID:190931005 {source="DOID:9120"}
xref: UMLS:C0002726 {source="MONDO:equivalentTo", source="MEDGEN:272", source="MONDO:MEDGEN"}
is_a: MONDO:0021179 {source="MESH:D000686"} ! proteostasis deficiencies
property_value: IAO:0000589 "amyloidosis (disease)" xsd:string

[Term]
id: MONDO:0019066
name: obsolete syndrome with brachydactyly
def: "OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." [Orphanet:69028]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:69028"}
synonym: "dysostosis with brachydactyly" RELATED [Orphanet:69028]
xref: GARD:18895 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q73.8 {source="Orphanet:69028/attributed", source="Orphanet:69028/ntbt", source="Orphanet:69028"}
xref: Orphanet:69028 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0019067
name: idiopathic steroid-sensitive nephrotic syndrome
def: "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." [Orphanet:69061]
subset: gard_rare {source="GARD:16678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:69061"}
subset: ordo_disorder {source="Orphanet:69061"}
subset: orphanet_rare {source="Orphanet:69061"}
subset: rare
xref: GARD:16678 {source="MONDO:GARD"}
xref: ICD10CM:N04.0 {source="Orphanet:69061/attributed", source="Orphanet:69061/ntbt", source="Orphanet:69061"}
xref: Orphanet:69061 {source="MONDO:equivalentTo"}
is_a: MONDO:0018170 {source="Orphanet:69061"} ! idiopathic nephrotic syndrome

[Term]
id: MONDO:0019068
name: congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
def: "A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life." [https://orcid.org/0000-0001-5208-3432, Orphanet:69063]
subset: gard_rare {source="GARD:18896", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69063"}
subset: orphanet_rare {source="Orphanet:69063"}
subset: rare
synonym: "alloimmune neonatal renal disease" EXACT [Orphanet:69063]
synonym: "fetomaternal alloimmunization with antenatal glomerulopathies" EXACT [Orphanet:69063]
synonym: "FMAIG" EXACT ABBREVIATION [Orphanet:69063]
synonym: "neonatal glomerulopathy due to Neprilysin alloimmunization" EXACT [Orphanet:69063]
synonym: "neonatal glomerulopathy due to neprilysin alloimmunization" EXACT [Orphanet:69063]
synonym: "neonatal membranous glomerulopathy with maternal NEP deficiency" EXACT [Orphanet:69063]
synonym: "neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency" EXACT [Orphanet:69063]
xref: GARD:18896 {source="MONDO:GARD"}
xref: ICD10CM:P96.0 {source="Orphanet:69063", source="Orphanet:69063/ntbt"}
xref: MEDGEN:1384031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:69063 {source="MONDO:equivalentTo"}
xref: SCTID:725592009 {source="MONDO:equivalentTo"}
xref: UMLS:C4511239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1384031"}
is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019069
name: obsolete rhabdoid tumor
is_obsolete: true
replaced_by: MONDO:0002728

[Term]
id: MONDO:0019070
name: obsolete liposarcoma
is_obsolete: true
replaced_by: MONDO:0005060

[Term]
id: MONDO:0019071
name: pure hair and nail ectodermal dysplasia
def: "Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant." [Orphanet:69084]
subset: gard_rare {source="GARD:16680", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69084"}
subset: ordo_malformation_syndrome {source="Orphanet:69084"}
subset: orphanet_rare {source="Orphanet:69084"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hair-nail ectodermal dysplasia" EXACT [Orphanet:69084]
synonym: "HNED" EXACT ABBREVIATION [Orphanet:69084]
synonym: "PHNED" EXACT ABBREVIATION [Orphanet:69084]
xref: DOID:0111655 {source="MONDO:equivalentTo"}
xref: GARD:16680 {source="MONDO:GARD"}
xref: MEDGEN:400883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:69084 {source="MONDO:equivalentTo"}
xref: UMLS:C1865951 {source="MEDGEN:400883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:69084"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0019072
name: intrahepatic cholestasis
def: "A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver." [DOID:1852, https://orcid.org/0000-0001-5208-3432]
subset: otar {source="MONDO:OTAR"}
xref: DOID:1852 {source="MONDO:equivalentTo"}
xref: ICD10CM:O26.6 {source="Orphanet:69665/ntbt", source="Orphanet:69665"}
xref: MEDGEN:3042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535932 {source="Orphanet:69665/e", source="DOID:0070227", source="Orphanet:69665"}
xref: MESH:D002780 {source="DOID:1852", source="MONDO:equivalentTo"}
xref: NCIT:C84400 {source="DOID:1852", source="MONDO:otherHierarchy"}
xref: Orphanet:65682
xref: SCTID:235888006 {source="MONDO:equivalentTo"}
xref: SCTID:4637005 {source="DOID:1852"}
xref: UMLS:C0008372 {source="MEDGEN:3042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001751 {source="DOID:1852", source="MESH:D002780"} ! cholestasis
relationship: excluded_subClassOf MONDO:0015115 {source="EFO:0009048", source="Orphanet:69665", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic metabolic liver disease
relationship: excluded_subClassOf MONDO:0024575 {source="Orphanet:69665", source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582"} ! rare

[Term]
id: MONDO:0019073
name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
subset: gard_rare {source="GARD:2492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "glomerulonephritis with sparse hair and telangiectases" RELATED [OMIM:137940]
synonym: "HLTRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137940]
synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT [Orphanet:69735]
synonym: "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" EXACT [MONDO:Lexical, OMIM:137940]
synonym: "telangiectatic membranoproliferative glomerulonephritis" RELATED [OMIM:137940]
xref: DOID:0111360 {source="MONDO:equivalentTo"}
xref: GARD:2492 {source="MONDO:GARD"}
xref: MEDGEN:1373459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536825 {source="MONDO:equivalentTo"}
xref: OMIM:137940 {source="Orphanet:69735", source="MONDO:equivalentTo"}
xref: UMLS:C4317151 {source="MEDGEN:1373459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0007670 ! hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11194 {source="MONDO:mim2gene_medgen"} ! SOX18

[Term]
id: MONDO:0019074
name: bilateral acute depigmentation of the iris
def: "Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure." [Orphanet:69736]
subset: gard_rare {source="GARD:18897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69736"}
subset: orphanet_rare {source="Orphanet:69736"}
subset: rare
synonym: "BADI" EXACT ABBREVIATION [Orphanet:69736]
xref: GARD:18897 {source="MONDO:GARD"}
xref: MEDGEN:929727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:69736 {source="MONDO:equivalentTo"}
xref: SCTID:720460007 {source="MONDO:equivalentTo"}
xref: UMLS:C4304058 {source="MEDGEN:929727", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 ! disease
is_a: MONDO:0011119 ! iridogoniodysgenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019075
name: Bosley-Salih-Alorainy syndrome
def: "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." [Orphanet:69737]
subset: gard_rare {source="GARD:16684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69737"}
subset: ordo_malformation_syndrome {source="Orphanet:69737"}
subset: orphanet_rare {source="Orphanet:69737"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BSAS" EXACT [OMIM:601536]
xref: GARD:16684 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:69737/attributed", source="Orphanet:69737/ntbt", source="Orphanet:69737"}
xref: MEDGEN:321908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601536 {source="Orphanet:69737/ntbt", source="Orphanet:69737", source="MONDO:includedEntryInOMIM"}
xref: Orphanet:69737 {source="MONDO:equivalentTo"}
xref: UMLS:C1832216 {source="MEDGEN:321908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011099 ! human HOXA1 syndromes
is_a: MONDO:0015160 {source="Orphanet:69737", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:69737", source="Orphanet:69737/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic HP:0000007 {source="Orphanet:69737"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0019076
name: circumscribed palmoplantar hypokeratosis
def: "Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin." [Orphanet:69744]
subset: gard_rare {source="GARD:18898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69744"}
subset: orphanet_rare {source="Orphanet:69744"}
subset: rare
xref: GARD:18898 {source="MONDO:GARD"}
xref: MEDGEN:590662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:69744 {source="MONDO:equivalentTo"}
xref: UMLS:C0406762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590662"}
is_a: MONDO:0019287 {source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0019077
name: warty dyskeratoma
def: "A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug." [NCIT:C4087]
subset: gard_rare {source="GARD:18899", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69745"}
subset: orphanet_rare {source="Orphanet:69745"}
subset: rare
synonym: "follicular dyskeratoma" EXACT [Orphanet:69745]
synonym: "isolated follicular keratosis" EXACT [NCIT:C4087]
xref: GARD:18899 {source="MONDO:GARD"}
xref: MedDRA:10068856 {source="Orphanet:69745", source="Orphanet:69745/e"}
xref: MEDGEN:137717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4087 {source="MONDO:equivalentTo"}
xref: Orphanet:69745 {source="MONDO:equivalentTo"}
xref: SCTID:254676008 {source="MONDO:equivalentTo"}
xref: UMLS:C0334063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137717"}
is_a: MONDO:0002093 {source="NCIT:C4087"} ! acanthoma
is_a: MONDO:0021634 {source="MONDO:Entailed", source="NCIT:C4087/inferred"} ! epithelial skin neoplasm

[Term]
id: MONDO:0019078
name: Ritscher-Schinzel syndrome
def: "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." [Orphanet:7]
subset: gard_rare {source="GARD:5666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:7"}
subset: ordo_malformation_syndrome {source="Orphanet:7"}
subset: orphanet_rare {source="Orphanet:7"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3C syndrome" EXACT [DOID:0060565, GARD:0005666]
synonym: "CCC dysplasia" EXACT [DOID:0060565, MESH:C535313]
synonym: "cranio-cerebello-cardiac dysplasia" RELATED [GARD:0005666]
synonym: "Craniocerebellocardiac dysplasia" EXACT [Orphanet:7]
synonym: "craniocerebellocardiac dysplasia" EXACT [DOID:0060565]
synonym: "Dandy-Walker like malformation with atrioventricular septal defect" RELATED [GARD:0005666]
synonym: "Dandy-Walker-like malformation with ASD" RELATED [GARD:0005666]
synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [MESH:C535313]
synonym: "Ritscher Schinzel syndrome" RELATED [GARD:0005666, MESH:C535313]
synonym: "Ritscher-Schinzel cranio-cerebello-cardiac syndrome" RELATED [GARD:0005666]
synonym: "Ritscher-Schinzel syndrome" EXACT [MESH:C535313, Orphanet:7]
xref: DOID:0060565 {source="MONDO:equivalentTo"}
xref: GARD:5666 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:7", source="Orphanet:7/attributed", source="Orphanet:7/ntbt", source="DOID:0060565"}
xref: MEDGEN:163220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535313 {source="Orphanet:7", source="DOID:0060565", source="MONDO:equivalentTo", source="Orphanet:7/e"}
xref: OMIMPS:220210 {source="DOID:0060565", source="MONDO:equivalentTo"}
xref: Orphanet:7 {source="GARD:0005666", source="DOID:0060565", source="MONDO:equivalentTo"}
xref: SCTID:718556007 {source="MONDO:equivalentTo"}
xref: UMLS:C0796137 {source="MEDGEN:163220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:7"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_feature MONDO:0009072 {source="MESH:C535313-modified"} ! Dandy-Walker syndrome
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:7", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:220210"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect" xsd:anyURI {source="GARD:0005666"}

[Term]
id: MONDO:0019079
name: proximal spinal muscular atrophy
def: "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:70]
subset: gard_rare {source="GARD:4531", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1729", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70"}
subset: orphanet_rare {source="Orphanet:70"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SMA" EXACT ABBREVIATION [Orphanet:70]
synonym: "Spinal Muscular Atrophy" EXACT [NORD:1729]
xref: GARD:4531 {source="MONDO:GARD"}
xref: ICD10CM:G12.0 {source="Orphanet:70", source="Orphanet:70/attributed", source="Orphanet:70/ntbt"}
xref: ICD10CM:G12.1 {source="Orphanet:70", source="Orphanet:70/attributed", source="Orphanet:70/ntbt"}
xref: MEDGEN:870510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100231 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1729 {source="MONDO:NORD"}
xref: Orphanet:70 {source="MONDO:equivalentTo"}
xref: UMLS:C4024957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:870510"}
is_a: MONDO:0001516 {source="https://orcid.org/0000-0002-2825-0621"} ! spinal muscular atrophy
is_a: MONDO:0020127 {source="Orphanet:70"} ! hereditary peripheral neuropathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy" xsd:anyURI {source="GARD:0004531"}

[Term]
id: MONDO:0019080
name: alopecia totalis
def: "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." [Orphanet:700]
subset: gard_rare {source="GARD:613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:700"}
subset: orphanet_rare {source="Orphanet:700"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alopecia totalis" EXACT []
synonym: "total alopecia areata" RELATED []
xref: GARD:613 {source="MONDO:GARD"}
xref: ICD10CM:L63.0 {source="Orphanet:700", source="Orphanet:700/e", source="Orphanet:700/specific"}
xref: icd11.foundation:1633035058 {source="Orphanet:700", source="MONDO:equivalentTo"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10001766 {source="Orphanet:700", source="Orphanet:700/e"}
xref: MEDGEN:75525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:700 {source="MONDO:equivalentTo"}
xref: SCTID:19754005 {source="MONDO:equivalentTo"}
xref: UMLS:C0263504 {source="MEDGEN:75525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="Orphanet:700"} ! alopecia

[Term]
id: MONDO:0019081
name: obsolete alopecia universalis
is_obsolete: true
replaced_by: MONDO:0008757

[Term]
id: MONDO:0019082
name: bullous pemphigoid
def: "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis." [Orphanet:703]
subset: gard_rare {source="GARD:5972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:703"}
subset: orphanet_rare {source="Orphanet:703"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign pemphigus" RELATED [GARD:0005972]
synonym: "bullous pemphigoid" EXACT [DOID:8506, MONDO:0005685, MTH:NOCODE]
synonym: "Old Age pemphigus" RELATED [GARD:0005972]
synonym: "Parapemphigus" RELATED [GARD:0005972]
synonym: "pemphigoid" RELATED EXCLUDE [GARD:0005972]
synonym: "senile dermatitis herpetiformis" RELATED [GARD:0005972]
xref: DOID:8506 {source="MONDO:equivalentTo", source="EFO:0007187"}
xref: EFO:0007187 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5972 {source="MONDO:GARD"}
xref: ICD10CM:L12 {source="DOID:8506"}
xref: ICD10CM:L12.0 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="Orphanet:703/e"}
xref: ICD10CM:L12.9 {source="DOID:8506"}
xref: icd11.foundation:233308710 {source="MONDO:equivalentTo", source="Orphanet:703"}
xref: ICD9:694.5 {source="DOID:8506"}
xref: MEDGEN:10620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010391 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="EFO:0007187", source="Orphanet:703/e"}
xref: NANDO:1200632 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200633 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34908 {source="DOID:8506"}
xref: NCIT:C84389 {source="MONDO:equivalentTo", source="DOID:8506"}
xref: Orphanet:703 {source="MONDO:equivalentTo"}
xref: SCTID:156356009 {source="DOID:8506"}
xref: SCTID:200912002 {source="DOID:8506"}
xref: SCTID:77090002 {source="MONDO:equivalentTo", source="DOID:8506"}
xref: SCTID:86142006 {source="DOID:8506"}
xref: UMLS:C0030805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10620"}
is_a: MONDO:0019337 {source="EFO:0007187", source="Orphanet:703"} ! autoimmune bullous skin disease
relationship: disease_has_feature HP:0008066 ! Abnormal blistering of the skin

[Term]
id: MONDO:0019083
name: Leigh syndrome with cardiomyopathy
subset: gard_rare {source="GARD:16685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" EXACT [Orphanet:70474]
synonym: "cardiomyopathy with myopathy due to COX deficiency" EXACT [Orphanet:70474]
synonym: "Leigh disease with myopathy" EXACT [Orphanet:70474]
xref: GARD:16685 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:70474/attributed", source="Orphanet:70474/ntbt", source="Orphanet:70474"}
xref: Orphanet:70474 {source="MONDO:equivalentTo"}
is_a: MONDO:0009723 {source="Orphanet:70474"} ! Leigh syndrome
intersection_of: MONDO:0009723 ! Leigh syndrome
intersection_of: disease_has_feature MONDO:0004994 ! cardiomyopathy

[Term]
id: MONDO:0019084
name: radiation proctitis
def: "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." [Orphanet:70475]
subset: gard_rare {source="GARD:18900", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1615"}
subset: ordo_disorder {source="Orphanet:70475"}
subset: orphanet_rare {source="Orphanet:70475"}
subset: rare
synonym: "Proctitis" EXACT [NORD:1615]
xref: GARD:18900 {source="MONDO:GARD"}
xref: ICD10CM:K62.7 {source="Orphanet:70475", source="MONDO:equivalentTo", source="Orphanet:70475/e"}
xref: icd11.foundation:177305885 {source="Orphanet:70475", source="MONDO:equivalentTo"}
xref: ICD9:569.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10037766 {source="Orphanet:70475", source="Orphanet:70475/e"}
xref: MEDGEN:586421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1615 {source="MONDO:NORD"}
xref: Orphanet:70475 {source="MONDO:equivalentTo"}
xref: SCTID:235760009 {source="MONDO:equivalentTo"}
xref: UMLS:C0400827 {source="MEDGEN:586421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:70475"} ! intestinal disorder
intersection_of: MONDO:0005538 ! proctitis
intersection_of: realized_in_response_to ECTO:0000001 ! exposure to radiation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare

[Term]
id: MONDO:0019085
name: vernal keratoconjunctivitis
def: "Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition." [https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis]
subset: gard_rare {source="GARD:7854", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1826", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70476"}
subset: orphanet_rare {source="Orphanet:70476"}
subset: rare
synonym: "Spring catarrh" EXACT [Orphanet:70476]
synonym: "Vernal Keratonconjunctivitis" EXACT [NORD:1826]
synonym: "VKC" RELATED ABBREVIATION [GARD:0007854]
xref: GARD:7854 {source="MONDO:GARD"}
xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:70476", source="Orphanet:70476/ntbt"}
xref: icd11.foundation:670300288 {source="MONDO:equivalentTo", source="Orphanet:70476"}
xref: MEDGEN:9622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1826 {source="MONDO:NORD"}
xref: Orphanet:70476 {source="MONDO:equivalentTo"}
xref: SCTID:317349009 {source="MONDO:equivalentTo"}
xref: UMLS:C0022577 {source="MEDGEN:9622", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis" xsd:anyURI {source="GARD:0007854"}

[Term]
id: MONDO:0019086
name: carcinoma of esophagus
def: "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)." [Orphanet:70482]
subset: disease_grouping
subset: gard_rare {source="GARD:6383", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:70482"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of esophagus" NARROW [DOID:1107, NCIT:C3513]
synonym: "cancer of oesophagus" NARROW OMO:0003005 []
synonym: "cancer of the esophagus" NARROW [NCIT:C3513]
synonym: "cancer of the oesophagus" NARROW OMO:0003005 []
synonym: "carcinoma of esophagus" EXACT [DOID:1107, MONDO:patterns/carcinoma, MTH:NOCODE, NCIT:C3513]
synonym: "carcinoma of the esophagus" EXACT [NCIT:C3513]
synonym: "carcinoma of the oesophagus" EXACT OMO:0003005 []
synonym: "esophageal cancer" NARROW [NCIT:C3513]
synonym: "esophageal cancer, NOS" NARROW [NCIT:C3513]
synonym: "esophageal carcinoma" EXACT [MONDO:0001189, NCIT:C3513, Orphanet:70482]
synonym: "esophagus carcinoma" EXACT [MONDO:patterns/location, NCIT:C3513]
synonym: "oesophagus carcinoma" EXACT OMO:0003005 []
xref: DOID:1107 {source="MONDO:equivalentTo"}
xref: EFO:0002916 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6383 {source="MONDO:GARD"}
xref: MedDRA:10030155 {source="Orphanet:70482", source="Orphanet:70482/e"}
xref: MEDGEN:56256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3513 {source="MONDO:equivalentTo", source="DOID:1107"}
xref: Orphanet:70482 {source="MONDO:equivalentTo"}
xref: SCTID:154441003 {source="DOID:1107"}
xref: SCTID:255079005 {source="DOID:1107"}
xref: SCTID:372138000 {source="MONDO:equivalentTo", source="DOID:1107"}
xref: SCTID:93785002 {source="DOID:1107"}
xref: UMLS:C0152018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56256"}
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3513"} ! digestive system carcinoma
is_a: MONDO:0007576 {source="DOID:1107", source="MONDO:Redundant", source="NCIT:C3513"} ! esophageal cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0019087
name: cholangiocarcinoma
def: "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." [NCIT:C4436]
subset: gard_rare {source="GARD:9304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:926"}
subset: ordo_disorder {source="Orphanet:70567"}
subset: orphanet_rare {source="Orphanet:70567"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult primary cholangiocarcinoma" EXACT [DOID:4947, NCIT:C8265]
synonym: "adult primary cholangiocellular carcinoma" EXACT [DOID:4947]
synonym: "bile duct cancer" BROAD [Orphanet:70567]
synonym: "CC" EXACT ABBREVIATION [NCIT:C4436]
synonym: "CCA" EXACT ABBREVIATION [Orphanet:70567]
synonym: "Cholangiocar.- intra/extrahepatic" EXACT [NCIT:C4436]
synonym: "cholangiocarcinoma" EXACT [NCIT:C4436]
synonym: "cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)" EXACT [NCIT:C4436]
synonym: "cholangiocarcinoma, malignant" EXACT [NCIT:C4436]
synonym: "Cholangiocellular carcinoma" EXACT [NCIT:C4436]
synonym: "cholangiosarcoma" EXACT [DOID:4947, NCIT:C4436]
synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" BROAD [NCIT:C4436]
xref: DOID:4947 {source="MONDO:equivalentTo", source="EFO:0005221"}
xref: EFO:0005221 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9304 {source="MONDO:GARD"}
xref: ICD10CM:C22.1 {source="Orphanet:70567", source="DOID:4947", source="Orphanet:70567/e"}
xref: ICD10CM:C24.0 {source="Orphanet:70567", source="Orphanet:70567/btnt"}
xref: ICD10CM:C24.8 {source="Orphanet:70567", source="Orphanet:70567/btnt"}
xref: ICD10CM:C24.9 {source="Orphanet:70567", source="Orphanet:70567/btnt"}
xref: ICDO:8160/3 {source="NCIT:C4436"}
xref: MedDRA:10004593 {source="Orphanet:70567", source="Orphanet:70567/e"}
xref: MedDRA:10008593 {source="Orphanet:70567", source="Orphanet:70567/e"}
xref: MEDGEN:60210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001650 {source="Orphanet:70567", source="Orphanet:70567/e"}
xref: MESH:D018281 {source="MONDO:equivalentTo", source="Orphanet:70567", source="DOID:4947", source="EFO:0005221", source="Orphanet:70567/e"}
xref: NCIT:C4436 {source="MONDO:equivalentTo", source="DOID:4947", source="EFO:0005221"}
xref: NCIT:C8265 {source="DOID:4947"}
xref: NORD:926 {source="MONDO:NORD"}
xref: ONCOTREE:CHOL {source="MONDO:equivalentTo"}
xref: Orphanet:70567 {source="MONDO:equivalentTo"}
xref: SCTID:312104005 {source="MONDO:equivalentTo", source="DOID:4947"}
xref: SCTID:70179006 {source="DOID:4947", source="EFO:0005221"}
xref: UMLS:C0206698 {source="MEDGEN:60210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003193 {source="DOID:4947", source="MONDO:Redundant", source="NCIT:C4436"} ! bile duct adenocarcinoma
is_a: MONDO:0018531 {source="MONDO:Redundant", source="Orphanet:70567"} ! carcinoma of liver and intrahepatic biliary tract
is_a: MONDO:0018918 {source="Orphanet:70567"} ! carcinoma of gallbladder and extrahepatic biliary tract
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_arises_from_structure UBERON:0002394 ! bile duct

[Term]
id: MONDO:0019088
name: post-transplant lymphoproliferative disease
def: "Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="GARD:9553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1950"}
subset: ordo_disorder {source="Orphanet:70568"}
subset: orphanet_rare {source="Orphanet:70568"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "post-transplant lymphoproliferative disorder" EXACT [NCIT:C4727]
synonym: "PTLD" EXACT ABBREVIATION [Orphanet:70568]
xref: GARD:9553 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="Orphanet:70568/ntbt", source="Orphanet:70568"}
xref: ICDO:9971/1 {source="NCIT:C4727"}
xref: MedDRA:10051358 {source="Orphanet:70568/e", source="Orphanet:70568"}
xref: MEDGEN:98160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4727 {source="MONDO:equivalentTo"}
xref: NORD:1950 {source="MONDO:NORD"}
xref: Orphanet:70568 {source="MONDO:equivalentTo"}
xref: SCTID:254290004 {source="MONDO:equivalentTo"}
xref: UMLS:C0432487 {source="MEDGEN:98160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700220 {source="NCIT:P378", source="https://orcid.org/0000-0001-5208-3432"} ! disease related to transplantation
relationship: excluded_subClassOf MONDO:0015760 {source="Orphanet:70568", source="https://orcid.org/0000-0001-5208-3432"} ! T-cell non-Hodgkin lymphoma
relationship: excluded_subClassOf MONDO:0017343 {source="Orphanet:70568", source="https://orcid.org/0000-0001-5208-3432"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
relationship: excluded_subClassOf MONDO:0020083 {source="Orphanet:70568", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency-associated lymphoproliferative disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease" xsd:anyURI {source="GARD:0009553"}

[Term]
id: MONDO:0019089
name: obsolete adult acute respiratory distress syndrome
is_obsolete: true
replaced_by: MONDO:0006502

[Term]
id: MONDO:0019090
name: obsolete meconium aspiration syndrome
is_obsolete: true
replaced_by: MONDO:0006851

[Term]
id: MONDO:0019091
name: bronchopulmonary dysplasia
def: "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." [Orphanet:70589]
subset: gard_rare {source="GARD:5962", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:874"}
subset: ordo_disorder {source="Orphanet:70589"}
subset: ordo_malformation_syndrome {source="Orphanet:70589"}
subset: orphanet_rare {source="Orphanet:70589"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BPD" EXACT ABBREVIATION [Orphanet:70589]
xref: DOID:11650 {source="MONDO:equivalentTo"}
xref: GARD:5962 {source="MONDO:GARD"}
xref: ICD10CM:P27.1 {source="Orphanet:70589", source="Orphanet:70589/e"}
xref: icd11.foundation:1462855296 {source="MONDO:equivalentTo", source="Orphanet:70589", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10006475 {source="Orphanet:70589", source="Orphanet:70589/e"}
xref: MEDGEN:2738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001997 {source="MONDO:equivalentTo", source="Orphanet:70589", source="Orphanet:70589/e"}
xref: NCIT:C90599 {source="MONDO:equivalentTo"}
xref: NORD:874 {source="MONDO:NORD"}
xref: Orphanet:70589 {source="MONDO:equivalentTo"}
xref: SCTID:67569000 {source="MONDO:equivalentTo"}
xref: UMLS:C0006287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2738"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia" xsd:anyURI {source="GARD:0005962"}

[Term]
id: MONDO:0019092
name: infantile apnea
def: "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." [Orphanet:70590]
subset: gard_rare {source="GARD:6779", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70590"}
subset: orphanet_rare {source="Orphanet:70590"}
subset: rare
synonym: "apnea of infancy" EXACT [Orphanet:70590]
xref: GARD:6779 {source="MONDO:GARD"}
xref: MEDGEN:1378556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:70590 {source="MONDO:equivalentTo"}
xref: SCTID:724229002 {source="MONDO:equivalentTo"}
xref: UMLS:C0745261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378556"}
is_a: MONDO:0005087 {source="Orphanet:70590"} ! respiratory system disorder
relationship: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0019093
name: immunodeficiency due to selective anti-polysaccharide antibody deficiency
def: "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." [Orphanet:70593]
subset: gard_rare {source="GARD:11903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70593"}
subset: orphanet_rare {source="Orphanet:70593"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "specific antibody deficiency" RELATED [GARD:0011903]
xref: GARD:11903 {source="MONDO:GARD"}
xref: ICD10CM:D80.8 {source="Orphanet:70593/attributed", source="Orphanet:70593/ntbt", source="Orphanet:70593"}
xref: MEDGEN:1747183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:70593 {source="MONDO:equivalentTo"}
xref: SCTID:234556002 {source="MONDO:equivalentTo"}
xref: UMLS:C5399780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1747183"}
is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease

[Term]
id: MONDO:0019094
name: congenital Epstein-Barr virus infection
def: "Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection." [Orphanet:70596]
subset: gard_rare {source="GARD:18903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70596"}
subset: orphanet_rare {source="Orphanet:70596"}
subset: rare
synonym: "antenatal EBV infection" EXACT [Orphanet:70596]
synonym: "antenatal Epstein-Barr virus infection" EXACT [Orphanet:70596]
synonym: "congenital EBV infection" EXACT [Orphanet:70596]
synonym: "mother-to-child transmission of Epstein-Barr virus infection" EXACT [Orphanet:70596]
xref: GARD:18903 {source="MONDO:GARD"}
xref: ICD10CM:P35.8 {source="Orphanet:70596/ntbt", source="Orphanet:70596"}
xref: icd11.foundation:1861788994 {source="Orphanet:70596", source="MONDO:equivalentTo"}
xref: MEDGEN:908580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:70596 {source="MONDO:equivalentTo"}
xref: SCTID:716660007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274357 {source="MEDGEN:908580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="Orphanet:70596"} ! viral infectious disease
is_a: MONDO:0016511 {source="Orphanet:70596"} ! infectious embryofetopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare

[Term]
id: MONDO:0019095
name: plague
def: "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." [Orphanet:707]
subset: gard_rare {source="GARD:18702", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1583"}
subset: ordo_disorder {source="Orphanet:707"}
subset: orphanet_rare {source="Orphanet:707"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "black death" RELATED []
synonym: "infection by Yersinia pestis" RELATED []
synonym: "pest" RELATED []
synonym: "pestilential fever" RELATED []
synonym: "plague" EXACT []
synonym: "Yersiniosis" BROAD [Orphanet:707]
xref: DOID:3482 {source="MONDO:equivalentTo"}
xref: EFO:0009425 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18702 {source="MONDO:GARD"}
xref: ICD10CM:A20 {source="MONDO:equivalentTo", source="DOID:3482"}
xref: ICD10CM:A20.0 {source="Orphanet:707/btnt", source="Orphanet:707"}
xref: ICD10CM:A20.1 {source="Orphanet:707/btnt", source="Orphanet:707"}
xref: ICD10CM:A20.2 {source="Orphanet:707/btnt", source="Orphanet:707"}
xref: ICD10CM:A20.3 {source="Orphanet:707/btnt", source="Orphanet:707"}
xref: ICD10CM:A20.7 {source="Orphanet:707/btnt", source="Orphanet:707"}
xref: ICD10CM:A20.8 {source="Orphanet:707/btnt", source="Orphanet:707"}
xref: ICD10CM:A20.9 {source="Orphanet:707/btnt", source="Orphanet:707", source="DOID:3482"}
xref: ICD9:020 {source="DOID:3482"}
xref: ICD9:020.9 {source="DOID:3482"}
xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10035148 {source="Orphanet:707/e", source="Orphanet:707"}
xref: MedDRA:10061416 {source="Orphanet:707/e", source="Orphanet:707"}
xref: MEDGEN:10785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010930 {source="Orphanet:707/e", source="MONDO:equivalentTo", source="Orphanet:707", source="DOID:3482"}
xref: MESH:D015009 {source="Orphanet:707/e", source="Orphanet:707", source="MONDO:directSiblingOf"}
xref: NCIT:C85015 {source="MONDO:equivalentTo", source="DOID:3482"}
xref: NORD:1583 {source="MONDO:NORD"}
xref: Orphanet:707 {source="MONDO:equivalentTo"}
xref: SCTID:186290009 {source="DOID:3482"}
xref: SCTID:187298009 {source="DOID:3482"}
xref: SCTID:58750007 {source="MONDO:equivalentTo", source="DOID:3482"}
xref: UMLS:C0032064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10785"}
is_a: MONDO:0000314 {source="DOID:3482"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:3482/inferred", source="MESH:D010930/inferred", source="MONDO:Redundant", source="NCIT:C85015", source="Orphanet:707"} ! bacterial infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:632 ! Yersinia pestis
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_infectious_agent NCBITaxon:632 {source="MONDO:Wikidata"} ! Yersinia pestis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
relationship: transmitted_by NCBITaxon:163159 ! Xenopsylla cheopis

[Term]
id: MONDO:0019096
name: obsolete rare pulmonary hypertension
def: "OBSOLETE. Rare pulmonary hypertension." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:71198"}
synonym: "rare pulmonary hypertension" EXACT [MONDO:patterns/rare]
xref: GARD:18904 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:71198 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005149

[Term]
id: MONDO:0019097
name: obsolete hemorrhagic disorder due to a constitutional platelet anomaly
def: "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth." [https://orcid.org/0000-0001-5208-3432]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:71202"}
synonym: "rare bleeding disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202]
synonym: "rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202]
synonym: "rare coagulopathy due to a constitutional platelet anomaly" EXACT [Orphanet:71202]
synonym: "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202]
synonym: "rare hemorrhagic disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202]
synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202]
xref: GARD:18905 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D69.1 {source="Orphanet:71202", source="Orphanet:71202/attributed", source="Orphanet:71202/ntbt"}
xref: Orphanet:71202 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019098
name: autoimmune thrombocytopenia
def: "An autoimmune form of thrombocytopenia." [MONDO:patterns/autoimmune]
subset: disease_grouping
subset: gard_rare {source="GARD:18906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:71203"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18906 {source="MONDO:GARD"}
xref: ICD10CM:D69.3 {source="Orphanet:71203", source="Orphanet:71203/ntbt"}
xref: MedDRA:10050245 {source="Orphanet:71203", source="Orphanet:71203/e"}
xref: MEDGEN:116621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:71203 {source="MONDO:equivalentTo"}
xref: SCTID:128091003 {source="MONDO:equivalentTo"}
xref: UMLS:C0242584 {source="MEDGEN:116621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune disease
intersection_of: MONDO:0002049 ! thrombocytopenia
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0019099
name: obsolete rare soft tissue tumor
def: "OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:71209"}
synonym: "rare mesenchymal tumor" EXACT [Orphanet:71209]
synonym: "rare soft tissue neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:18907 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:71209 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006424

[Term]
id: MONDO:0019100
name: neuromyelitis optica
def: "A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." [Orphanet:71211]
subset: gard_rare {source="GARD:6267", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1505"}
subset: ordo_disorder {source="Orphanet:71211"}
subset: orphanet_rare {source="Orphanet:71211"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Devic disease" EXACT [Orphanet:71211]
synonym: "Devic syndrome" RELATED [GARD:0006267]
synonym: "Devic's disease" EXACT [DOID:8869, ICD10CM:G36.0]
synonym: "Devic's neuromyelitis optica" RELATED [GARD:0006267]
synonym: "Devic's syndrome" EXACT [DOID:8869]
synonym: "Neuromyelitis Optica Spectrum Disorder" EXACT [NORD:1505]
synonym: "NMO" RELATED ABBREVIATION [GARD:0006267]
xref: DOID:8869 {source="EFO:0004256", source="MONDO:equivalentTo"}
xref: EFO:0004256 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6267 {source="MONDO:GARD"}
xref: ICD10CM:G36.0 {source="Orphanet:71211", source="DOID:8869", source="Orphanet:71211/e"}
xref: icd11.foundation:744293382 {source="Orphanet:71211", source="MONDO:equivalentTo"}
xref: ICD9:341.0 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869", source="MONDO:i2s"}
xref: MedDRA:10029322 {source="Orphanet:71211", source="Orphanet:71211/e"}
xref: MEDGEN:45063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009471 {source="EFO:0004256", source="Orphanet:71211", source="MONDO:equivalentTo", source="DOID:8869", source="Orphanet:71211/e"}
xref: NANDO:1200027 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201322 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84934 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869"}
xref: NORD:1505 {source="MONDO:NORD"}
xref: Orphanet:71211 {source="MONDO:equivalentTo"}
xref: SCTID:25044007 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869"}
xref: UMLS:C0027873 {source="MEDGEN:45063", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="GARD:0006267", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
is_a: MONDO:0044685 {source="Orphanet:71211", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune/inflammatory optic neuropathy
relationship: excluded_subClassOf MONDO:0005301 {source="EFO:0004256", source="https://orcid.org/0000-0001-5208-3432"} ! multiple sclerosis
relationship: excluded_subClassOf MONDO:0016428 {source="Orphanet:71211", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete multiple sclerosis variant
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica" xsd:anyURI {source="GARD:0006267"}

[Term]
id: MONDO:0019101
name: retinal capillary malformation
def: "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." [Orphanet:71213]
subset: gard_rare {source="GARD:18908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71213"}
subset: orphanet_rare {source="Orphanet:71213"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18908 {source="MONDO:GARD"}
xref: ICD10CM:D18.0 {source="Orphanet:71213", source="Orphanet:71213/attributed", source="Orphanet:71213/ntbt"}
xref: Orphanet:71213 {source="MONDO:equivalentTo"}
is_a: MONDO:0020247 {source="Orphanet:71213"} ! congenital vitreoretinal dysplasia
is_a: MONDO:0024296 {source="Orphanet:71213"} ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare

[Term]
id: MONDO:0019102
name: dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
def: "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive." [Orphanet:71267]
subset: gard_rare {source="GARD:18909", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71267"}
subset: ordo_malformation_syndrome {source="Orphanet:71267"}
subset: orphanet_rare {source="Orphanet:71267"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18909 {source="MONDO:GARD"}
xref: MEDGEN:929261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:71267 {source="MONDO:equivalentTo"}
xref: SCTID:721089006 {source="MONDO:equivalentTo"}
xref: UMLS:C4303592 {source="MEDGEN:929261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:71267", source="Orphanet:71267/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0019103
name: benign exophthalmos syndrome
def: "Benign exophthalmos syndrome is characterized by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." [Orphanet:71269]
synonym: "bes" EXACT [Orphanet:71269]
xref: ICD10CM:H05.2 {source="Orphanet:71269", source="Orphanet:71269/ntbt"}
xref: MEDGEN:930337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:71269 {source="MONDO:equivalentObsolete"}
xref: SCTID:719519007 {source="MONDO:equivalentTo"}
xref: UMLS:C4304668 {source="MONDO:equivalentTo", source="MEDGEN:930337", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0019104
name: Sandifer syndrome
def: "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia." [Orphanet:71272]
subset: gard_rare {source="GARD:9684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71272"}
subset: orphanet_rare {source="Orphanet:71272"}
subset: rare
synonym: "Sandifer's syndrome" RELATED [GARD:0009684]
xref: GARD:9684 {source="MONDO:GARD"}
xref: MedDRA:10066142 {source="Orphanet:71272/e", source="Orphanet:71272"}
xref: MEDGEN:90922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537234 {source="Orphanet:71272/e", source="MONDO:equivalentTo", source="Orphanet:71272"}
xref: NCIT:C113397 {source="MONDO:equivalentTo"}
xref: Orphanet:71272 {source="MONDO:equivalentTo"}
xref: SCTID:230314007 {source="MONDO:equivalentTo"}
xref: UMLS:C0338465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90922"}
is_a: MONDO:0002254 {source="NCIT:C113397", source="https://orcid.org/0000-0002-3458-4839"} ! syndromic disease
is_a: MONDO:0005395 {source="MONDO:0017657-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! movement disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome" xsd:anyURI {source="GARD:0009684"}

[Term]
id: MONDO:0019105
name: renal nutcracker syndrome
def: "A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices." [Orphanet:71273]
subset: gard_rare {source="GARD:11971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71273"}
subset: orphanet_rare {source="Orphanet:71273"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "left renal vein entrapment syndrome" EXACT [Orphanet:71273]
synonym: "nutcracker syndrome" RELATED [GARD:0011971]
synonym: "RNS" EXACT ABBREVIATION [Orphanet:71273]
xref: EFO:1001838 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:11971 {source="MONDO:GARD"}
xref: MEDGEN:465238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059228 {source="Orphanet:71273", source="MONDO:equivalentTo", source="Orphanet:71273/e"}
xref: Orphanet:71273 {source="MONDO:equivalentTo"}
xref: SCTID:717267005 {source="MONDO:equivalentTo"}
xref: UMLS:C3178770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:465238"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare

[Term]
id: MONDO:0019106
name: obsolete disseminated peritoneal leiomyomatosis
is_obsolete: true
replaced_by: MONDO:0006183

[Term]
id: MONDO:0019107
name: Rh deficiency syndrome
def: "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia." [https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome]
subset: gard_rare {source="GARD:12916", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71275"}
subset: orphanet_rare {source="Orphanet:71275"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, hemolytic, Rh-null, regulator type" EXACT [OMIM:268150, OMIM:genemap2]
synonym: "Rh deficiency syndrome" EXACT [OMIM:268150]
synonym: "Rh-Mod" RELATED [OMIM:268150]
synonym: "Rh-null disease" RELATED [OMIM:268150]
synonym: "Rh-null disease, regulator type" RELATED [OMIM:268150]
synonym: "Rh-null hemolytic Anemia, regulator type" RELATED [OMIM:268150]
synonym: "Rh-null syndrome" EXACT [Orphanet:71275]
synonym: "RH-null, regulator type" RELATED [MONDO:Lexical, OMIM:268150]
synonym: "RHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268150]
synonym: "RHNR" RELATED ABBREVIATION [OMIM:268150]
xref: DOID:0050641 {source="MONDO:equivalentTo"}
xref: GARD:12916 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:71275/attributed", source="Orphanet:71275/ntbt", source="Orphanet:71275"}
xref: MEDGEN:75772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562717 {source="MONDO:equivalentTo"}
xref: OMIM:268150 {source="DOID:0050641", source="Orphanet:71275/ntbt", source="Orphanet:71275", source="MONDO:equivalentTo"}
xref: Orphanet:71275 {source="MONDO:equivalentTo", source="OMIM:268150"}
xref: SCTID:37272000 {source="MONDO:equivalentTo"}
xref: UMLS:C0272052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75772"}
is_a: MONDO:0020102 {source="Orphanet:71275"} ! hereditary stomatocytosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10006 {source="MONDO:mim2gene_medgen"} ! RHAG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome" xsd:anyURI {source="GARD:0012916"}

[Term]
id: MONDO:0019108
name: silent sinus syndrome
def: "Silent sinus syndrome is characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls." [Orphanet:71276]
subset: gard_rare {source="GARD:18910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71276"}
subset: orphanet_rare {source="Orphanet:71276"}
subset: rare
synonym: "Imploding antrum syndrome" EXACT [Orphanet:71276]
xref: GARD:18910 {source="MONDO:GARD"}
xref: icd11.foundation:1204931989 {source="Orphanet:71276", source="MONDO:equivalentTo"}
xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:785359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:71276 {source="MONDO:equivalentTo"}
xref: SCTID:699802009 {source="MONDO:equivalentTo"}
xref: UMLS:C3698095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:785359"}
is_a: MONDO:0024623 {source="Orphanet:71276"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare

[Term]
id: MONDO:0019109
name: CANOMAD syndrome
def: "CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy." [Orphanet:71279]
subset: gard_rare {source="GARD:9778", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71279"}
subset: orphanet_rare {source="Orphanet:71279"}
subset: rare
synonym: "chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome" RELATED [GARD:0009778]
synonym: "chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome" EXACT [Orphanet:71279]
synonym: "chronic sensory ataxic neuropathy with anti-disialosyl antibodies" RELATED [GARD:0009778]
synonym: "chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies" EXACT [Orphanet:71279]
xref: GARD:9778 {source="MONDO:GARD"}
xref: ICD10CM:G61.8 {source="Orphanet:71279", source="Orphanet:71279/ntbt"}
xref: MEDGEN:419872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537980 {source="MONDO:equivalentTo", source="Orphanet:71279", source="Orphanet:71279/e"}
xref: Orphanet:71279 {source="MONDO:equivalentTo"}
xref: SCTID:715624006 {source="MONDO:equivalentTo"}
xref: UMLS:C2931684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419872"}
is_a: MONDO:0015923 {source="Orphanet:71279"} ! acquired peripheral neuropathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome" xsd:anyURI {source="GARD:0009778"}

[Term]
id: MONDO:0019110
name: obsolete rare central nervous system or retinal vascular disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:71281"}
xref: GARD:18911 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:71281 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020676

[Term]
id: MONDO:0019111
name: familial thrombocytosis
def: "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." [https://github.com/monarch-initiative/mondo/issues/230, Orphanet:71493]
subset: gard_rare {source="GARD:16688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71493"}
subset: orphanet_rare {source="Orphanet:71493"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial thrombocythemia" EXACT [Orphanet:71493]
synonym: "hereditary thrombocythemia" EXACT [Orphanet:71493]
synonym: "hereditary thrombocytosis" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary thrombocytosis disease" EXACT [MONDO:patterns/hereditary]
synonym: "THCYT" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "thrombocythemia" RELATED [OMIMPS:187950]
xref: GARD:16688 {source="MONDO:GARD"}
xref: icd11.foundation:1695088249 {source="Orphanet:71493", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:929430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:187950 {source="MONDO:equivalentTo"}
xref: Orphanet:71493 {source="MONDO:equivalentTo"}
xref: SCTID:720950009 {source="MONDO:equivalentTo"}
xref: UMLS:C4303761 {source="MONDO:equivalentTo", source="MEDGEN:929430", source="MONDO:MEDGEN"}
is_a: MONDO:0002249 {source="MONDO:Redundant"} ! thrombocytosis disease
intersection_of: MONDO:0002249 ! thrombocytosis disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:187950"} ! inherited

[Term]
id: MONDO:0019112
name: cancer-associated retinopathy
def: "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins." [Orphanet:71505]
subset: gard_rare {source="GARD:18912", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71505"}
subset: orphanet_rare {source="Orphanet:71505"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAR syndrome" EXACT [Orphanet:71505]
synonym: "paraneoplastic retinopathy" EXACT [Orphanet:71505]
xref: GARD:18912 {source="MONDO:GARD"}
xref: icd11.foundation:1216073790 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:71505"}
xref: ICD9:362.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:729915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059545 {source="MONDO:equivalentTo"}
xref: Orphanet:71505 {source="MONDO:equivalentTo"}
xref: SCTID:404663008 {source="MONDO:equivalentTo"}
xref: UMLS:C1321315 {source="MEDGEN:729915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018215 {source="Orphanet:71505"} ! paraneoplastic neurologic syndrome
intersection_of: MONDO:0005283 ! retinal disorder
intersection_of: disease_arises_from_feature MONDO:0004992 ! cancer
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0019113
name: benign paroxysmal torticollis of infancy
def: "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." [Orphanet:71518]
subset: gard_rare {source="GARD:18913", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:71518"}
subset: orphanet_rare {source="Orphanet:71518"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18913 {source="MONDO:GARD"}
xref: ICD10CM:G24.3 {source="Orphanet:71518/attributed", source="Orphanet:71518/ntbt", source="Orphanet:71518"}
xref: MEDGEN:782128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:71518 {source="MONDO:equivalentTo"}
xref: SCTID:719521002 {source="MONDO:equivalentTo"}
xref: UMLS:C3494934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:782128"}
is_a: MONDO:0016058 {source="Orphanet:71518"} ! paroxysmal dystonia

[Term]
id: MONDO:0019114
name: psychogenic movement disorders
def: "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." [Orphanet:71519]
subset: gard_rare {source="GARD:18914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:71519"}
subset: ordo_disorder {source="Orphanet:71519"}
subset: orphanet_rare {source="Orphanet:71519"}
subset: rare
synonym: "psychogenic dystonia" EXACT [Orphanet:71519]
xref: GARD:18914 {source="MONDO:GARD"}
xref: ICD10CM:F44.4 {source="Orphanet:71519/ntbt", source="Orphanet:71519"}
xref: MedDRA:10072376 {source="Orphanet:71519/e", source="Orphanet:71519"}
xref: MEDGEN:155722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:71519 {source="MONDO:equivalentTo"}
xref: UMLS:C0752208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155722"}
is_a: MONDO:0005395 {source="Orphanet:71519"} ! movement disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015143"} ! rare

[Term]
id: MONDO:0019115
name: obesity due to melanocortin 4 receptor deficiency
def: "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." [Orphanet:71529]
subset: gard_rare {source="GARD:16690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:71529"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:71529"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4R deficiency" EXACT [Orphanet:71529]
xref: GARD:16690 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:71529/attributed", source="Orphanet:71529/ntbt", source="Orphanet:71529"}
xref: MEDGEN:903905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120394 {source="MONDO:equivalentTo"}
xref: Orphanet:71529 {source="MONDO:equivalentTo"}
xref: SCTID:717269008 {source="MONDO:equivalentTo"}
xref: UMLS:C4273958 {source="MEDGEN:903905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011122 {source="https://orcid.org/0000-0001-5208-3432"} ! obesity disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6932 {source="Orphanet:71529", source="https://orcid.org/0000-0001-5208-3432"} ! MC4R

[Term]
id: MONDO:0019116
name: obsolete catecholamine-producing tumor
def: "OBSOLETE. Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)." [Orphanet:717]
comment: Orphanet obsoleted this
xref: Orphanet:717 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2199" xsd:anyURI
is_obsolete: true
consider: MONDO:0015077
consider: MONDO:0021072

[Term]
id: MONDO:0019117
name: obsolete genetic nervous system disorder
def: "OBSOLETE. An instance of nervous system disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:71859"}
synonym: "genetic nervous system disorder" EXACT [MONDO:patterns/genetic]
synonym: "genetic neurological disorder" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "rare genetic neurological disorder" EXACT [Orphanet:71859]
xref: GARD:18915 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:71859 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019118
name: inherited retinal dystrophy
def: "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:18916", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:71862"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial retinal dystrophy" EXACT []
synonym: "fundus dystrophy" BROAD [MONDO:0004590]
synonym: "genetic retinal dystrophy" EXACT []
synonym: "hereditary retinal degeneration" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary retinal dystrophy" EXACT [MONDO:0004589]
synonym: "inherited retinal dystrophy" EXACT CLINGEN_LABEL []
synonym: "retinal dystrophy" EXACT [DOID:8501, NCIT:C35625]
xref: DOID:8500 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:8501 {source="MONDO:equivalentTo"}
xref: GARD:18916 {source="MONDO:GARD"}
xref: HP:0000556 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H35.5 {source="DOID:8500", source="MONDO:equivalentTo"}
xref: ICD10CM:H35.50 {source="DOID:8500"}
xref: ICD9:362.7 {source="DOID:8500"}
xref: ICD9:362.70 {source="DOID:8500", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:362.72 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:362.75 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10038857 {source="Orphanet:71862", source="Orphanet:71862/e"}
xref: MEDGEN:208903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058499 {source="DOID:8501", source="MONDO:equivalentTo", source="Orphanet:71862", source="Orphanet:71862/e"}
xref: NCIT:C35194 {source="DOID:8500", source="MONDO:equivalentTo"}
xref: NCIT:C35625 {source="DOID:8501", source="MONDO:equivalentTo"}
xref: Orphanet:71862 {source="MONDO:equivalentTo"}
xref: SCTID:193399000 {source="DOID:8500"}
xref: SCTID:193417000 {source="DOID:8500"}
xref: SCTID:267615006 {source="DOID:8500"}
xref: SCTID:314407005 {source="DOID:8501", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:41799005 {source="DOID:8500", source="MONDO:equivalentTo"}
xref: UMLS:C0854723 {source="MEDGEN:208903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
intersection_of: MONDO:0004580 ! retinal degeneration
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: disease_causes_dysfunction_of UBERON:0000966 ! retina
relationship: disease_has_feature HP:0000556 ! Retinal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019119
name: muscular channelopathy
def: "A channelopathy that involves the muscle tissue." [MONDO:patterns/location]
subset: disease_grouping
subset: gard_rare {source="GARD:18917", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:71864"}
subset: rare
synonym: "channelopathy of muscle tissue" EXACT [MONDO:design_pattern]
synonym: "muscle tissue channelopathy" EXACT [MONDO:patterns/location]
xref: GARD:18917 {source="MONDO:GARD"}
xref: MEDGEN:1842600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:71864 {source="MONDO:equivalentTo"}
xref: Orphanet:98737 {source="MONDO:mondoIsBroaderThanSource"}
xref: UMLS:C5681306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842600"}
is_a: MONDO:0019056 {source="Orphanet:71864"} ! neuromuscular disease

[Term]
id: MONDO:0019120
name: pili bifurcati
def: "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." [Orphanet:720]
subset: gard_rare {source="GARD:18703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:720"}
subset: orphanet_rare {source="Orphanet:720"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18703 {source="MONDO:GARD"}
xref: ICD10CM:L67.8 {source="Orphanet:720", source="Orphanet:720/attributed", source="Orphanet:720/ntbt"}
xref: MEDGEN:1812698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:720 {source="MONDO:equivalentTo"}
xref: SCTID:717360009 {source="MONDO:equivalentTo"}
xref: UMLS:C5574653 {source="MONDO:equivalentTo", source="MEDGEN:1812698", source="MONDO:MEDGEN"}
is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly

[Term]
id: MONDO:0019121
name: pneumocystosis
def: "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localized to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." [https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis]
subset: gard_rare {source="GARD:4386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1923"}
subset: ordo_disorder {source="Orphanet:723"}
subset: orphanet_rare {source="Orphanet:723"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCP" EXACT ABBREVIATION [NCIT:C3334]
synonym: "PJP" EXACT ABBREVIATION [NCIT:C3334]
synonym: "Pneumocystis" EXACT [NCIT:C3334]
synonym: "Pneumocystis carinii pneumonia" EXACT [DOID:11339]
synonym: "Pneumocystis jirovecii pneumonia" EXACT [DOID:11339]
synonym: "Pneumocystis Pneumonia" EXACT [NORD:1923]
synonym: "Pneumocystis pneumonia" EXACT [DOID:11339]
synonym: "pneumocystosis" EXACT [DOID:11339, ICD9CM:136.3]
synonym: "pneumocystosis pneumonia" EXACT [DOID:11339]
synonym: "pulmonary pneumocystosis" EXACT [DOID:11339]
xref: DOID:11339 {source="EFO:0007448", source="MONDO:equivalentTo"}
xref: EFO:0007448 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4386 {source="MONDO:GARD"}
xref: ICD10CM:B59 {source="DOID:11339", source="MONDO:equivalentTo"}
xref: ICD10EXP:B59+ {source="Orphanet:723", source="Orphanet:723/e"}
xref: ICD10EXP:J17.3* {source="Orphanet:723/ntbt", source="Orphanet:723"}
xref: icd11.foundation:404370038 {source="Orphanet:723", source="MONDO:equivalentTo"}
xref: ICD9:136.3 {source="DOID:11339"}
xref: MEDGEN:777048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011020 {source="DOID:11339", source="EFO:0007448", source="MONDO:equivalentTo"}
xref: NCIT:C3334 {source="DOID:11339", source="MONDO:equivalentTo"}
xref: NORD:1923 {source="MONDO:NORD"}
xref: Orphanet:723 {source="MONDO:equivalentTo"}
xref: SCTID:155557008 {source="DOID:11339"}
xref: SCTID:415125002 {source="DOID:11339", source="MONDO:equivalentTo"}
xref: SCTID:57541005 {source="DOID:11339"}
xref: SCTID:88860002 {source="DOID:11339"}
xref: UMLS:C1535939 {source="MEDGEN:777048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="MONDO:Redundant", source="Orphanet:723"} ! fungal infectious disease
is_a: MONDO:0002312 {source="DOID:11339"} ! opportunistic mycosis
is_a: MONDO:0005249 {source="MESH:D011020", source="NCIT:C3334"} ! pneumonia
relationship: disease_has_infectious_agent NCBITaxon:42068 ! Pneumocystis jirovecii
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis" xsd:anyURI {source="GARD:0004386"}

[Term]
id: MONDO:0019122
name: idiopathic acute eosinophilic pneumonia
def: "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection." [Orphanet:724]
subset: gard_rare {source="GARD:519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:728"}
subset: ordo_disorder {source="Orphanet:724"}
subset: orphanet_rare {source="Orphanet:724"}
subset: rare
synonym: "Acute Eosinophilic Pneumonia" EXACT [NORD:728]
synonym: "IAEP" EXACT ABBREVIATION [Orphanet:724]
synonym: "Loeffler syndrome" EXACT [GARD:0000107, MONDO:0004807, Orphanet:724]
synonym: "Loeffler's pneumonia" EXACT [DOID:9503]
synonym: "Loffler syndrome" EXACT [Orphanet:724]
synonym: "Loffler's syndrome" EXACT [DOID:9503]
synonym: "Löffler syndrome" EXACT [NCIT:C35301]
synonym: "pulmonary infiltrates with eosinophilia" RELATED [GARD:0000107]
xref: DOID:9503 {source="MONDO:equivalentTo"}
xref: GARD:519 {source="MONDO:GARD"}
xref: ICD10CM:J82 {source="Orphanet:724/ntbt", source="DOID:9503", source="Orphanet:724"}
xref: icd11.foundation:1455309767 {source="Orphanet:724", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1371970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011657 {source="DOID:9503"}
xref: NCIT:C35301 {source="DOID:9503", source="MONDO:equivalentTo"}
xref: NORD:728 {source="MONDO:NORD"}
xref: Orphanet:724 {source="MONDO:equivalentTo"}
xref: SCTID:123261002 {source="DOID:9503"}
xref: SCTID:64936001 {source="DOID:9503", source="MONDO:equivalentTo"}
xref: UMLS:C4518469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1371970"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35301"} ! syndromic disease
is_a: MONDO:0004802 {source="DOID:9503"} ! pulmonary eosinophilia
is_a: MONDO:0015927 {source="Orphanet:724"} ! idiopathic eosinophilic pneumonia
relationship: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019123
name: continuous spikes and waves during sleep
def: "Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." [Orphanet:725]
subset: gard_rare {source="GARD:1513", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:725"}
subset: orphanet_rare {source="Orphanet:725"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "continuous spikes and waves during slow-wave sleep" EXACT [Orphanet:725]
synonym: "CSWS" EXACT ABBREVIATION [Orphanet:725]
synonym: "CSWSS syndrome" EXACT [Orphanet:725]
synonym: "epileptic encephalopathy with continuous spike-and-wave during slow sleep" EXACT [Orphanet:725]
xref: GARD:1513 {source="MONDO:GARD"}
xref: MEDGEN:1790601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200601 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:725 {source="MONDO:equivalentTo"}
xref: UMLS:C5552731 {source="MEDGEN:1790601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009509 ! Landau-Kleffner syndrome
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html" xsd:anyURI

[Term]
id: MONDO:0019124
name: microscopic polyangiitis
def: "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." [Orphanet:727]
subset: gard_rare {source="GARD:3652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:727"}
subset: orphanet_rare {source="Orphanet:727"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Micropolyangiitis" EXACT [Orphanet:727]
synonym: "microscopic polyarteritis" EXACT [Orphanet:727]
synonym: "MPA" EXACT ABBREVIATION [Orphanet:727]
xref: EFO:1000784 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3652 {source="MONDO:GARD"}
xref: ICD10CM:M31.7 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"}
xref: icd11.foundation:999231798 {source="MONDO:equivalentTo", source="Orphanet:727"}
xref: MedDRA:10063344 {source="EFO:1000784", source="Orphanet:727", source="Orphanet:727/e"}
xref: MEDGEN:389393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055953 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"}
xref: NANDO:1200262 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200426 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C70549 {source="MONDO:equivalentTo"}
xref: Orphanet:727 {source="EFO:1000784", source="MONDO:equivalentTo"}
xref: SCTID:239928004 {source="MONDO:equivalentTo"}
xref: UMLS:C2347126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:389393"}
is_a: MONDO:0015492 {source="MESH:D055953", source="Orphanet:727"} ! anti-neutrophil cytoplasmic antibody-associated vasculitis
is_a: MONDO:0043494 {source="NCIT:C70549"} ! arteritis
is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:727", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis" xsd:anyURI {source="GARD:0003652"}

[Term]
id: MONDO:0019125
name: relapsing polychondritis
def: "A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement." [https://orcid.org/0000-0001-5208-3432, Orphanet:728]
subset: gard_rare {source="GARD:7417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1655"}
subset: ordo_disorder {source="Orphanet:728"}
subset: orphanet_rare {source="Orphanet:728"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondromalacia, systemic" EXACT [DOID:2556]
synonym: "chronic atrophic polychondritis" RELATED [GARD:0007417]
synonym: "recurrent polychondritis" RELATED [GARD:0007417]
xref: DOID:2556 {source="MONDO:equivalentTo", source="EFO:1001148"}
xref: EFO:1001148 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7417 {source="MONDO:GARD"}
xref: ICD10CM:M94.1 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"}
xref: icd11.foundation:1412888287 {source="MONDO:equivalentTo", source="Orphanet:728"}
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10038304 {source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"}
xref: MEDGEN:45995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011081 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"}
xref: NANDO:1200283 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100154 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200428 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C157268 {source="MONDO:equivalentTo"}
xref: NORD:1655 {source="MONDO:NORD"}
xref: Orphanet:728 {source="MONDO:equivalentTo"}
xref: SCTID:111256009 {source="DOID:2556"}
xref: SCTID:72275000 {source="DOID:2556", source="MONDO:equivalentTo", source="EFO:1001148"}
xref: SCTID:85780006 {source="DOID:2556"}
xref: UMLS:C0032453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45995"}
is_a: MONDO:0002342 {source="DOID:2556"} ! chondromalacia
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:728", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis" xsd:anyURI {source="GARD:0007417"}

[Term]
id: MONDO:0019126
name: obsolete intractable diarrhea of infancy
def: "OBSOLETE. Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterized by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterized by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." [Orphanet:73014]
subset: ordo_group_of_disorders {source="Orphanet:73014"}
subset: otar {source="MONDO:OTAR"}
synonym: "IDI" EXACT ABBREVIATION [Orphanet:73014]
xref: GARD:18918 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:73014 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019127
name: polymyositis
def: "A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." [https://orcid.org/0000-0001-5208-3432, Orphanet:732]
subset: gard_rare {source="GARD:7425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:732"}
subset: orphanet_rare {source="Orphanet:732"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PM" EXACT ABBREVIATION [Orphanet:732]
synonym: "polymyositis" EXACT [MONDO:0005234]
xref: DOID:0080745 {source="MONDO:equivalentTo"}
xref: EFO:0003063 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7425 {source="MONDO:GARD"}
xref: ICD10CM:M33.2 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e"}
xref: icd11.foundation:1157134196 {source="Orphanet:732", source="MONDO:equivalentTo"}
xref: ICD9:710.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003063"}
xref: MedDRA:10036102 {source="Orphanet:732", source="Orphanet:732/e"}
xref: MEDGEN:39086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017285 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e", source="EFO:0003063"}
xref: NANDO:1200276 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26925 {source="MONDO:equivalentTo", source="EFO:0003063"}
xref: Orphanet:732 {source="MONDO:equivalentTo"}
xref: SCTID:31384009 {source="MONDO:equivalentTo", source="EFO:0003063"}
xref: UMLS:C0085655 {source="MEDGEN:39086", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Wikipedia:Polymyositis {source="EFO:0003063"}
is_a: MONDO:0020122 {source="Orphanet:732", source="https://orcid.org/0000-0001-5208-3432"} ! acquired idiopathic inflammatory myopathy
is_a: MONDO:0021167 {source="EFO:0003063", source="MESH:D017285", source="NCIT:C26925"} ! myositis disease
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:732", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0019128
name: mullerian aplasia
subset: disease_grouping
subset: gard_rare {source="GARD:7100", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:73217"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aplasia of the Mullerian ducts" EXACT [Orphanet:73217]
synonym: "aplasia of the Müllerian ducts" EXACT [Orphanet:73217]
synonym: "Mullerian duct failure" EXACT [Orphanet:73217]
synonym: "Müllerian aplasia" RELATED [Orphanet:73217]
synonym: "Müllerian duct failure" EXACT [Orphanet:73217]
xref: GARD:7100 {source="MONDO:GARD"}
xref: MEDGEN:98466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537371 {source="MONDO:equivalentTo", source="Orphanet:73217", source="Orphanet:73217/e"}
xref: Orphanet:73217 {source="MONDO:equivalentTo"}
xref: SCTID:253828000 {source="MONDO:equivalentTo"}
xref: UMLS:C0431637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98466"}
is_a: MONDO:0002263 {source="MONDO:Redundant", source="Orphanet:73217"} ! female reproductive system disorder
relationship: excluded_subClassOf MONDO:0015829 {source="Orphanet:73217", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic uterovaginal malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015980"} ! rare

[Term]
id: MONDO:0019129
name: global developmental delay-osteopenia-ectodermal defect syndrome
def: "This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies." [Orphanet:73223]
subset: gard_rare {source="GARD:18919", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:73223"}
subset: ordo_malformation_syndrome {source="Orphanet:73223"}
subset: orphanet_rare {source="Orphanet:73223"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18919 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:73223", source="Orphanet:73223/attributed", source="Orphanet:73223/ntbt"}
xref: MEDGEN:929239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:73223 {source="MONDO:equivalentTo"}
xref: SCTID:717813005 {source="MONDO:equivalentTo"}
xref: UMLS:C4303570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929239"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:73223", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019130
name: tubular renal disease-cardiomyopathy syndrome
def: "A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." [Orphanet:73224]
subset: gard_rare {source="GARD:18920", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:73224"}
subset: orphanet_rare {source="Orphanet:73224"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18920 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:73224/attributed", source="Orphanet:73224/ntbt", source="Orphanet:73224"}
xref: MEDGEN:930068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:73224 {source="MONDO:equivalentTo"}
xref: UMLS:C4304399 {source="MEDGEN:930068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:73224"} ! syndromic disease
relationship: disease_has_feature HP:0001644 {source="Orphanet:73224"} ! Dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:73224", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI

[Term]
id: MONDO:0019131
name: ossification anomalies-psychomotor developmental delay syndrome
def: "Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification." [Orphanet:73230]
subset: gard_rare {source="GARD:18921", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:73230"}
subset: orphanet_rare {source="Orphanet:73230"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18921 {source="MONDO:GARD"}
xref: ICD10CM:Q79.8 {source="Orphanet:73230/attributed", source="Orphanet:73230/ntbt", source="Orphanet:73230"}
xref: MEDGEN:928495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:73230 {source="MONDO:equivalentTo"}
xref: UMLS:C4302826 {source="MONDO:equivalentTo", source="MEDGEN:928495", source="MONDO:MEDGEN"}
is_a: MONDO:0015929 {source="Orphanet:73230"} ! thoracic malformation
relationship: disease_has_feature HP:0004348 {source="Orphanet:73230"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:73230", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:73230", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019132
name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
subset: gard_rare {source="GARD:18922", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:73245"}
subset: ordo_malformation_syndrome {source="Orphanet:73245"}
subset: orphanet_rare {source="Orphanet:73245"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18922 {source="MONDO:GARD"}
xref: ICD10CM:G12.8 {source="Orphanet:73245", source="Orphanet:73245/attributed", source="Orphanet:73245/ntbt"}
xref: MEDGEN:1393821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:73245 {source="MONDO:equivalentTo"}
xref: UMLS:C4509964 {source="MEDGEN:1393821", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation

[Term]
id: MONDO:0019133
name: visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
def: "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." [Orphanet:73246]
subset: gard_rare {source="GARD:18923", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:73246"}
subset: ordo_malformation_syndrome {source="Orphanet:73246"}
subset: orphanet_rare {source="Orphanet:73246"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18923 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:73246/attributed", source="Orphanet:73246/ntbt", source="Orphanet:73246"}
xref: MEDGEN:930071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:73246 {source="MONDO:equivalentTo"}
xref: UMLS:C4304402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930071"}
is_a: MONDO:0015159 {source="Orphanet:73246"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:73246", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019134
name: central neurocytoma
def: "Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good." [Orphanet:73256]
subset: gard_rare {source="GARD:10641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:73256"}
subset: orphanet_rare {source="Orphanet:73256"}
subset: rare
synonym: "central neurocytoma (WHO grade II)" EXACT [NCIT:C3791]
synonym: "CNC" RELATED ABBREVIATION [ONCOTREE:CNC]
synonym: "Neurolipocytoma" EXACT [DOID:14174]
xref: DOID:14174 {source="MONDO:equivalentTo"}
xref: GARD:10641 {source="MONDO:GARD"}
xref: icd11.foundation:1247650801 {source="Orphanet:73256", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9506/1 {source="NCIT:C3791"}
xref: MEDGEN:104924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018306 {source="MONDO:equivalentTo", source="DOID:14174"}
xref: NCIT:C3791 {source="MONDO:equivalentTo", source="DOID:14174", source="MONDO:exact-label-match"}
xref: ONCOTREE:CNC {source="MONDO:equivalentTo"}
xref: Orphanet:73256 {source="MONDO:equivalentTo"}
xref: SCTID:128858006 {source="DOID:14174"}
xref: SCTID:302832007 {source="DOID:14174"}
xref: UMLS:C0206719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104924"}
is_a: MONDO:0002682 {source="DOID:14174", source="EFO:1000856", source="NCIT:C3791"} ! cerebral ventricle cancer
is_a: MONDO:0016729 {source="NCIT:C3791"} ! mixed neuronal-glial tumor
relationship: excluded_subClassOf MONDO:0002682 {source="DOID:14174", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral ventricle cancer
relationship: has_characteristic MONDO:0024492 {source="NCIT:C3791"} ! tumor grade 2, general grading system
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma" xsd:anyURI {source="GARD:0010641"}

[Term]
id: MONDO:0019135
name: obsolete paracoccidioidomycosis
is_obsolete: true
replaced_by: MONDO:0005894

[Term]
id: MONDO:0019136
name: Zygomycosis
def: "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." [NCIT:C77212]
subset: gard_rare {source="GARD:10224", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1946", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:73263"}
subset: orphanet_rare {source="Orphanet:73263"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mucormycosis" EXACT [NORD:1946]
synonym: "mucormycosis" EXACT [Orphanet:73263]
synonym: "Zygomycota infectious disease" EXACT []
xref: DOID:8485 {source="EFO:0007380", source="MONDO:equivalentTo", source="MONDO:obsolete"}
xref: EFO:0007380 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10224 {source="MONDO:GARD"}
xref: ICD10CM:B46 {source="MONDO:equivalentTo"}
xref: ICD10CM:B46.0 {source="Orphanet:73263/btnt", source="Orphanet:73263"}
xref: ICD10CM:B46.1 {source="Orphanet:73263/btnt", source="Orphanet:73263"}
xref: ICD10CM:B46.2 {source="Orphanet:73263/btnt", source="Orphanet:73263"}
xref: ICD10CM:B46.3 {source="Orphanet:73263/btnt", source="Orphanet:73263"}
xref: ICD10CM:B46.4 {source="Orphanet:73263/btnt", source="Orphanet:73263"}
xref: ICD10CM:B46.5 {source="Orphanet:73263/btnt", source="Orphanet:73263"}
xref: ICD10CM:B46.8 {source="Orphanet:73263/btnt", source="Orphanet:73263"}
xref: ICD10CM:B46.9 {source="Orphanet:73263/btnt", source="Orphanet:73263"}
xref: icd11.foundation:1676389165 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:73263"}
xref: ICD9:117.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10028098 {source="Orphanet:73263/e", source="Orphanet:73263"}
xref: MedDRA:10061418 {source="Orphanet:73263/e", source="Orphanet:73263"}
xref: MEDGEN:12207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009091 {source="MONDO:relatedTo", source="Orphanet:73263/e", source="EFO:0007380", source="Orphanet:73263"}
xref: MESH:D020096 {source="Orphanet:73263/e", source="MONDO:equivalentTo", source="Orphanet:73263"}
xref: NCIT:C77212 {source="MONDO:equivalentTo"}
xref: NORD:1946 {source="MONDO:NORD"}
xref: Orphanet:73263 {source="MONDO:equivalentTo"}
xref: SCTID:59277005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:76627001 {source="MONDO:equivalentTo"}
xref: UMLS:C0043541 {source="MEDGEN:12207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="ICD10CM:B46", source="MESH:D020096", source="MONDO:Redundant", source="NCIT:C77212", source="Orphanet:73263"} ! fungal infectious disease
is_a: MONDO:0005550 {source="EFO:0007380", source="NCIT:C77212/inferred"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:451507 ! Mucoromycotina
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare
relationship: has_characteristic MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10224/zygomycosis" xsd:anyURI {source="GARD:0010224"}

[Term]
id: MONDO:0019137
name: non-24-hour sleep-wake syndrome
def: "Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations." [Orphanet:73267]
subset: gard_rare {source="GARD:10949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1511"}
subset: ordo_disorder {source="Orphanet:73267"}
subset: orphanet_rare {source="Orphanet:73267"}
subset: rare
synonym: "circadian rhythm sleep disorder, free running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24]
synonym: "circadian rhythm sleep disorder, free-running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24]
synonym: "hypernychthemeral syndrome" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24, Orphanet:73267]
synonym: "non 24 hour sleep wake disorder" RELATED [GARD:0010949]
synonym: "non-24" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24]
synonym: "Non-24-Hour Sleep-Wake Disorder" EXACT [NORD:1511]
xref: GARD:10949 {source="MONDO:GARD"}
xref: ICD10CM:G47.2 {source="Orphanet:73267", source="Orphanet:73267/ntbt"}
xref: ICD10CM:G47.24 {source="MONDO:equivalentTo"}
xref: MEDGEN:148383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1511 {source="MONDO:NORD"}
xref: Orphanet:73267 {source="MONDO:equivalentTo"}
xref: SCTID:230496009 {source="MONDO:equivalentTo"}
xref: UMLS:C0751759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148383"}
is_a: MONDO:0003406 {source="ICD10CM:G47.24", source="ICD10CM:G47.24/inferred", source="MONDO:Redundant", source="Orphanet:73267"} ! sleep-wake disorder
is_a: MONDO:0024361 {source="ICD10CM:G47.24", source="MONDO:Redundant"} ! circadian rhythm sleep disorder
relationship: disease_has_basis_in_disruption_of GO:0007623 ! circadian rhythm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare

[Term]
id: MONDO:0019138
name: obsolete bleeding diathesis due to a collagen receptor defect
subset: ordo_disorder {source="Orphanet:73271"}
xref: GARD:16691 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D69.8 {source="Orphanet:73271/attributed", source="Orphanet:73271/ntbt", source="Orphanet:73271"}
xref: Orphanet:73271 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019139
name: acquired hemophilia
def: "Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications." [GARD:0010350]
subset: gard_rare {source="GARD:10350", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired hemophilia" EXACT [GARD:0010350, MONDO:patterns/acquired]
synonym: "hemophilia, acquired" EXACT [GARD:0010350]
xref: GARD:10350 {source="MONDO:GARD"}
xref: ICD10CM:D68.311 {source="MONDO:equivalentTo"}
xref: ICD10CM:D68.4 {source="Orphanet:73274/e", source="Orphanet:73274"}
xref: MedDRA:10053745 {source="Orphanet:73274/e", source="Orphanet:73274"}
xref: MEDGEN:204253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536392 {source="MONDO:mondoIsBroaderThanSource"}
xref: NANDO:1200898 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:73274 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1096116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:204253"}
is_a: MONDO:0002243 {source="MONDO:0015662-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hemorrhagic disease
intersection_of: MONDO:0018660 ! hemophilia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0019140
name: acute ackee fruit intoxication
def: "Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils." [Orphanet:73423]
subset: gard_rare {source="GARD:9299", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:73423"}
subset: orphanet_rare {source="Orphanet:73423"}
subset: rare
synonym: "ackee poisoning" RELATED [GARD:0009299]
synonym: "acute intoxication by Blighia sapida" EXACT [Orphanet:73423]
synonym: "Jamaican vomiting sickness" EXACT [Orphanet:73423]
synonym: "Jamaican vomiting syndrome" EXACT [Orphanet:73423]
xref: GARD:9299 {source="MONDO:GARD"}
xref: ICD10CM:T62.2 {source="Orphanet:73423/ntbt", source="Orphanet:73423"}
xref: ICD9:988.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C537562 {source="MONDO:equivalentTo"}
xref: Orphanet:73423 {source="MONDO:equivalentTo"}
xref: SCTID:49434001 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:73423"} ! poisoning
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019141
name: porokeratosis of Mibelli
def: "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." [Orphanet:735]
subset: gard_rare {source="GARD:4438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:735"}
subset: orphanet_rare {source="Orphanet:735"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:4438 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:735/attributed", source="Orphanet:735/ntbt", source="Orphanet:735"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:181842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:735 {source="MONDO:equivalentTo"}
xref: SCTID:80432009 {source="MONDO:equivalentTo"}
xref: UMLS:C0949506 {source="MEDGEN:181842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:735", source="Orphanet:735/inferred"} ! disease
is_a: MONDO:0006602 {source="Orphanet:735"} ! porokeratosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare

[Term]
id: MONDO:0019142
name: inherited porphyria
def: "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." [Orphanet:738]
comment: Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic
subset: disease_grouping
subset: gard_rare {source="GARD:10353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:738"}
subset: rare
synonym: "disorder of porphyrin and hem metabolism" EXACT [DOID:13268]
synonym: "disorder of porphyrin and heme metabolism" BROAD [DOID:13268]
synonym: "disorder of porphyrin metabolism" BROAD [DOID:13268, ICD9CM:277.1]
synonym: "Hematoporphyria" RELATED [DOID:13268]
synonym: "hereditary porphyria" EXACT [MONDO:patterns/hereditary]
synonym: "porphyria" BROAD [DOID:13268]
synonym: "Porphyrinopathy" RELATED [DOID:13268]
xref: DOID:13268 {source="MONDO:equivalentTo"}
xref: GARD:10353 {source="MONDO:GARD"}
xref: ICD10CM:E80.0 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"}
xref: ICD10CM:E80.1 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"}
xref: ICD10CM:E80.2 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"}
xref: ICD10CM:E80.20 {source="MONDO:ICD_NOS", source="DOID:13268"}
xref: ICD9:277.1 {source="DOID:13268"}
xref: MedDRA:10036181 {source="Orphanet:738", source="Orphanet:738/e"}
xref: MedDRA:10061356 {source="Orphanet:738", source="Orphanet:738/e"}
xref: MEDGEN:698423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011164 {source="MONDO:equivalentTo", source="Orphanet:738", source="DOID:13268", source="Orphanet:738/e"}
xref: NANDO:2200610 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C97096 {source="MONDO:equivalentTo", source="DOID:13268"}
xref: Orphanet:738 {source="MONDO:equivalentTo"}
xref: SCTID:154768004 {source="DOID:13268"}
xref: SCTID:190912004 {source="DOID:13268"}
xref: SCTID:190916001 {source="DOID:13268"}
xref: SCTID:238052001 {source="DOID:13268"}
xref: SCTID:274090006 {source="DOID:13268"}
xref: SCTID:29094004 {source="DOID:13268"}
xref: SCTID:371628009 {source="MONDO:equivalentTo", source="DOID:13268"}
xref: SCTID:418470004 {source="MONDO:relatedTo", source="DOID:13268"}
xref: SCTID:86292002 {source="DOID:13268"}
xref: UMLS:C1275125 {source="MEDGEN:698423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="DOID:13268/inferred", source="MESH:D011164", source="MONDO:Redundant", source="NCIT:C97096", source="Orphanet:738/inferred"} ! metabolic disease
is_a: MONDO:0015951 {source="Orphanet:738"} ! hereditary photodermatosis
is_a: MONDO:0017754 {source="MONDO:Redundant", source="Orphanet:738"} ! inborn disorder of porphyrin metabolism
intersection_of: MONDO:0037939 ! porphyria
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:738", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10353/porphyria" xsd:anyURI {source="GARD:0010353"}

[Term]
id: MONDO:0019143
name: angiostrongyliasis
def: "A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur." [Orphanet:74]
subset: gard_rare {source="GARD:683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:74"}
subset: orphanet_rare {source="Orphanet:74"}
subset: rare
xref: DOID:0050256 {source="MONDO:equivalentTo"}
xref: GARD:683 {source="MONDO:GARD"}
xref: ICD10CM:B81.3 {source="Orphanet:74/btnt", source="Orphanet:74"}
xref: ICD10CM:B83.2 {source="Orphanet:74/btnt", source="Orphanet:74"}
xref: ICD9:128.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10069517 {source="Orphanet:74/e", source="Orphanet:74"}
xref: MEDGEN:98230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536369 {source="Orphanet:74/e", source="MONDO:equivalentTo", source="Orphanet:74"}
xref: NCIT:C128394 {source="MONDO:equivalentTo"}
xref: Orphanet:74 {source="MONDO:equivalentTo"}
xref: SCTID:61750000 {source="MONDO:equivalentTo"}
xref: UMLS:C0392662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98230"}
is_a: MONDO:0004664 {source="DOID:0050256", source="MESH:C536369/inferred"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:0050256/inferred", source="MESH:C536369/inferred", source="MONDO:Redundant", source="NCIT:C128394", source="Orphanet:74"} ! parasitic infectious disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis" xsd:anyURI {source="GARD:0000683"}

[Term]
id: MONDO:0019144
name: hereditary thrombophilia due to congenital protein S deficiency
def: "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." [Orphanet:743]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16543", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:743"}
subset: orphanet_rare {source="Orphanet:743"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [Orphanet:743]
synonym: "hereditary thrombophilia due to congenital protein S deficiency" EXACT CLINGEN_LABEL []
synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" RELATED [Orphanet:743]
xref: DOID:0111905 {source="MONDO:equivalentTo"}
xref: GARD:16543 {source="MONDO:GARD"}
xref: ICD10CM:D68.5 {source="Orphanet:743/attributed", source="Orphanet:743/ntbt", source="Orphanet:743"}
xref: MEDGEN:748876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:743 {source="MONDO:equivalentTo"}
xref: UMLS:C2584611 {source="MEDGEN:748876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002304 {source="https://orcid.org/0000-0002-6601-2165"} ! protein S deficiency
is_a: MONDO:0100240 {source="MONDO:0016320-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! inherited thrombophilia

[Term]
id: MONDO:0019145
name: hereditary thrombophilia due to congenital protein C deficiency
def: "Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C." [Orphanet:745]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1899"}
subset: ordo_disorder {source="Orphanet:745"}
subset: orphanet_rare {source="Orphanet:745"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive thrombophilia due to congenital protein C deficiency" EXACT [Orphanet:745]
synonym: "autosomal recessive thrombophilia due to PC deficiency" EXACT [Orphanet:745]
synonym: "hereditary thrombophilia due to congenital protein C deficiency" EXACT CLINGEN_LABEL []
synonym: "hereditary thrombophilia due to PC deficiency" EXACT [Orphanet:745]
synonym: "Protein C Deficiency" EXACT [NORD:1899]
synonym: "Protein C deficiency" EXACT [NCIT:C99025]
synonym: "protein C deficiency" EXACT [MONDO:0002767]
synonym: "Protein C deficiency disease" EXACT [NCIT:C99025]
synonym: "severe hereditary thrombophilia due to congenital protein C deficiency" RELATED [Orphanet:745]
xref: DOID:3756 {source="MONDO:equivalentTo"}
xref: GARD:16544 {source="MONDO:GARD"}
xref: ICD10CM:D68.2 {source="Orphanet:745/attributed", source="Orphanet:745/ntbt", source="Orphanet:745"}
xref: ICD10CM:D68.59 {source="DOID:3756"}
xref: MEDGEN:671121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535424 {source="MONDO:equivalentTo"}
xref: MESH:D020151 {source="MONDO:equivalentTo", source="DOID:3756"}
xref: NANDO:1201080 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100197 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200689 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99025 {source="MONDO:equivalentTo", source="DOID:3756"}
xref: NORD:1899 {source="MONDO:NORD"}
xref: Orphanet:745 {source="MONDO:equivalentTo"}
xref: SCTID:76407009 {source="MONDO:equivalentTo", source="DOID:3756"}
xref: UMLS:C0598221 {source="MEDGEN:671121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100240 {source="MESH:C535424/inferred", source="MESH:D020151", source="MONDO:0016320-obsoleted", source="NCIT:C99025"} ! inherited thrombophilia
relationship: disease_disrupts GO:0030195 ! negative regulation of blood coagulation
relationship: disease_has_basis_in_disruption_of GO:0004252 ! serine-type endopeptidase activity

[Term]
id: MONDO:0019146
name: inherited susceptibility to mycobacterial diseases
def: "A rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." [Orphanet:748]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:748"}
subset: predisposition
synonym: "idiopathic infection caused by BCG or atypical mycobacteria" EXACT [Orphanet:748]
synonym: "Mendelian susceptibility to atypical mycobacteria" EXACT [Orphanet:748]
synonym: "Mendelian susceptibility to mycobacterial infections" EXACT [Orphanet:748]
synonym: "MSMD" EXACT ABBREVIATION [Orphanet:748]
synonym: "Mycobacterium caused genetic susceptibility to infections due to particular pathogens" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium genetic susceptibility to infections due to particular pathogens" EXACT []
xref: ICD10CM:D84.8 {source="Orphanet:748", source="Orphanet:748/attributed", source="Orphanet:748/ntbt"}
xref: MEDGEN:473805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200359 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200759 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:748 {source="MONDO:equivalentTo"}
xref: UMLS:C3266863 {source="MEDGEN:473805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: disease_has_infectious_agent NCBITaxon:1763 ! Mycobacterium

[Term]
id: MONDO:0019147
name: myiasis
def: "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." [NCIT:C128400]
subset: disease_grouping
subset: gard_rare {source="GARD:18924", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:75110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infestation by fly larvae" EXACT [DOID:11080]
synonym: "infestation by maggots" EXACT [DOID:11080]
synonym: "maggot infestation" EXACT [DOID:11080]
synonym: "myiasis, unspecified" EXACT [DOID:11080]
xref: DOID:11080 {source="EFO:0007389", source="MONDO:equivalentTo"}
xref: EFO:0007389 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18924 {source="MONDO:GARD"}
xref: ICD10CM:B87 {source="DOID:11080"}
xref: ICD10CM:B87.0 {source="Orphanet:75110/btnt", source="Orphanet:75110"}
xref: ICD10CM:B87.1 {source="Orphanet:75110/btnt", source="Orphanet:75110"}
xref: ICD10CM:B87.2 {source="Orphanet:75110/btnt", source="Orphanet:75110"}
xref: ICD10CM:B87.3 {source="Orphanet:75110/btnt", source="Orphanet:75110"}
xref: ICD10CM:B87.4 {source="Orphanet:75110/btnt", source="Orphanet:75110"}
xref: ICD10CM:B87.8 {source="Orphanet:75110/btnt", source="Orphanet:75110"}
xref: ICD10CM:B87.9 {source="DOID:11080", source="Orphanet:75110/btnt", source="Orphanet:75110"}
xref: ICD9:134.0 {source="DOID:11080", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10028586 {source="Orphanet:75110/e", source="Orphanet:75110"}
xref: MEDGEN:10148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009198 {source="EFO:0007389", source="DOID:11080", source="Orphanet:75110/e", source="MONDO:equivalentTo", source="Orphanet:75110"}
xref: NCIT:C128400 {source="MONDO:equivalentTo"}
xref: Orphanet:75110 {source="MONDO:equivalentTo"}
xref: SCTID:154423006 {source="DOID:11080"}
xref: SCTID:187224004 {source="DOID:11080"}
xref: SCTID:187547004 {source="DOID:11080"}
xref: SCTID:266225001 {source="DOID:11080"}
xref: SCTID:60412004 {source="DOID:11080", source="MONDO:equivalentTo"}
xref: UMLS:C0027030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10148"}
is_a: MONDO:0002875 {source="DOID:11080", source="MESH:D009198"} ! parasitic ectoparasitic infectious disease
is_a: MONDO:0005135 {source="DOID:11080/inferred", source="EFO:0007389", source="MESH:D009198/inferred", source="MONDO:Redundant", source="NCIT:C128400", source="Orphanet:75110"} ! parasitic infectious disease
relationship: disease_has_infectious_agent NCBITaxon:7147 ! Diptera
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare

[Term]
id: MONDO:0019148
name: Wolman disease
def: "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues." [Orphanet:75233]
subset: gard_rare {source="GARD:7899", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1862"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:75233"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acid esterase deficiency" EXACT [DOID:14497]
synonym: "acid lipase deficiency" EXACT [DOID:14497]
synonym: "deficiency of cholesterol esterase and triacylglycerol lipase" RELATED []
synonym: "familial visceral xanthomatosis" RELATED []
synonym: "familial xanthomatosis" RELATED [GARD:0007899]
synonym: "liposomal acid lipase deficiency, Wolman type" RELATED [GARD:0007899]
synonym: "lysosomal acid lipase deficiency" BROAD [NCIT:C61271]
synonym: "primary familial xanthomatosis" RELATED []
synonym: "primary familial xanthomatosis with adrenal calcification" RELATED []
synonym: "Wolman disease with hypolipoproteinemia and acanthocytosis" EXACT [OMIM:278100]
synonym: "Wolman xanthomatosis" EXACT [DOID:14497]
synonym: "Wolman's disease" EXACT [DOID:14497]
synonym: "Wolman's or triglyceride storage type III disease" EXACT [DOID:14497]
synonym: "xanthomatosis, familial" EXACT [DOID:14497]
xref: DOID:14497 {source="MONDO:equivalentTo"}
xref: GARD:7899 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="Orphanet:75233", source="Orphanet:75233/ntbt", source="DOID:14497", source="Orphanet:75233/inclusion"}
xref: MedDRA:10053687 {source="Orphanet:75233", source="Orphanet:75233/e"}
xref: MEDGEN:53088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564736 {source="MONDO:equivalentTo"}
xref: MESH:D015223 {source="Orphanet:75233", source="MONDO:equivalentTo", source="Orphanet:75233/e", source="DOID:14497"}
xref: NANDO:1200142 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200143 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200570 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201232 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C61271 {source="MONDO:equivalentTo", source="DOID:14497"}
xref: NORD:1862 {source="MONDO:NORD"}
xref: OMIM:620151 {source="MONDO:equivalentTo"}
xref: Orphanet:75233 {source="MONDO:equivalentTo"}
xref: SCTID:190795007 {source="DOID:14497"}
xref: SCTID:190797004 {source="DOID:14497"}
xref: SCTID:238074007 {source="MONDO:possiblyEquivalent", source="DOID:14497"}
xref: SCTID:37896002 {source="DOID:14497"}
xref: SCTID:82500001 {source="MONDO:equivalentTo", source="DOID:14497"}
xref: UMLS:C0043208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:53088"}
is_a: MONDO:0003847 {source="MESH:C564736/inferred"} ! hereditary disease
is_a: MONDO:0800449 {source="DOID:14497", source="Orphanet:75233"} ! lysosomal acid lipase deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0002561 {source="DOID:14497/inferred", source="MESH:D015223/inferred", source="MONDO:Redundant", source="NCIT:C61271", source="Orphanet:75233/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal storage disease
relationship: excluded_subClassOf MONDO:0019245 {source="DOID:14497/inferred", source="MESH:D015223/inferred", source="Orphanet:75233/inferred", source="PMID:21502308", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal lipid storage disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5903" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6379" xsd:anyURI

[Term]
id: MONDO:0019149
name: cholesteryl ester storage disease
def: "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia." [Orphanet:75234]
subset: gard_rare {source="GARD:12099", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:929"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:75234"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CESD" RELATED ABBREVIATION [GARD:0012099]
synonym: "cholesterol ester hydrolase deficiency, partial" EXACT [OMIM:278000]
synonym: "cholesterol ester storage disease" EXACT [MONDO:0001981, OMIM:278000, Orphanet:75234]
synonym: "LAL deficiency, partial" EXACT [OMIM:278000]
synonym: "LIPA deficiency, partial" EXACT [OMIM:278000]
synonym: "lysosomal acid lipase deficiency, partial" EXACT CLINGEN_LABEL [OMIM:278000]
synonym: "lysosomal and lipase deficiency" RELATED [DOID:0080217]
xref: DOID:14502 {source="MONDO:equivalentTo"}
xref: GARD:12099 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="Orphanet:75234", source="Orphanet:75234/attributed", source="Orphanet:75234/ntbt"}
xref: MEDGEN:40266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015217 {source="DOID:14502"}
xref: NANDO:1200144 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201233 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:929 {source="MONDO:NORD"}
xref: OMIM:278000 {source="Orphanet:275761", source="MONDO:equivalentTo", source="DOID:0080217", source="Orphanet:275761/e"}
xref: Orphanet:275761 {source="OMIM:278000"}
xref: Orphanet:75234 {source="MONDO:equivalentTo"}
xref: SCTID:57218003 {source="MONDO:equivalentTo", source="DOID:14502"}
xref: UMLS:C0008384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40266"}
is_a: MONDO:0800449 {source="DOID:14502", source="Orphanet:75234"} ! lysosomal acid lipase deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6617 {source="OMIM:278000"} ! LIPA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6379" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI

[Term]
id: MONDO:0019150
name: obsolete familial isolated restrictive cardiomyopathy
def: "OBSOLETE. Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." [https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy]
subset: ordo_disorder {source="Orphanet:75249"}
subset: otar {source="MONDO:OTAR"}
synonym: "familial or idiopathic restrictive cardiomyopathy" EXACT [Orphanet:75249]
xref: GARD:16692 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:I42.5 {source="Orphanet:75249", source="Orphanet:75249/e", source="Orphanet:75249/specific"}
xref: Orphanet:75249 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019151
name: oligocone trichromacy
def: "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision." [Orphanet:75378]
subset: gard_rare {source="GARD:18925", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75378"}
subset: orphanet_rare {source="Orphanet:75378"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Oligocone syndrome" EXACT [Orphanet:75378]
xref: GARD:18925 {source="MONDO:GARD"}
xref: MEDGEN:928545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:75378 {source="MONDO:equivalentTo"}
xref: SCTID:722066001 {source="MONDO:equivalentTo"}
xref: UMLS:C4302876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928545"}
is_a: MONDO:0019118 {source="Orphanet:75378"} ! inherited retinal dystrophy

[Term]
id: MONDO:0019152
name: Oguchi disease
def: "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." [Orphanet:75382]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10118", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75382"}
subset: ordo_malformation_syndrome {source="Orphanet:75382"}
subset: orphanet_rare {source="Orphanet:75382"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital stationary night blindness, Oguchi type" EXACT [Orphanet:75382]
synonym: "Oguchi disease" EXACT CLINGEN_LABEL []
synonym: "Oguchi syndrome" EXACT [Orphanet:75382]
synonym: "stationary night blindness, Oguchi type" RELATED [GARD:0010118]
xref: GARD:10118 {source="MONDO:GARD"}
xref: ICD10CM:H53.6 {source="Orphanet:75382", source="Orphanet:75382/ntbt", source="Orphanet:75382/index"}
xref: MEDGEN:224927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537743 {source="Orphanet:75382/e", source="MONDO:equivalentTo", source="Orphanet:75382"}
xref: Orphanet:75382 {source="MONDO:equivalentTo"}
xref: UMLS:C1306122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224927"}
is_a: MONDO:0019118 {source="Orphanet:75382", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy
relationship: disease_has_feature HP:0030824 ! Mizuo phenomenon
relationship: excluded_subClassOf MONDO:0016293 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital stationary night blindness
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease" xsd:anyURI {source="GARD:0010118"}

[Term]
id: MONDO:0019153
name: brain malformation-congenital heart disease-postaxial polydactyly syndrome
def: "Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." [Orphanet:75389]
subset: gard_rare {source="GARD:18926", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75389"}
subset: ordo_malformation_syndrome {source="Orphanet:75389"}
subset: orphanet_rare {source="Orphanet:75389"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Goossens-Devriendt syndrome" EXACT [Orphanet:75389]
xref: GARD:18926 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:75389/attributed", source="Orphanet:75389/ntbt", source="Orphanet:75389"}
xref: MEDGEN:929214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:75389 {source="MONDO:equivalentTo"}
xref: SCTID:717943008 {source="MONDO:equivalentTo"}
xref: UMLS:C4303545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929214"}
is_a: MONDO:0015159 {source="Orphanet:75389"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:75389", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005267 {source="MONDO:0015506-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019154
name: androgen insensitivity syndrome
def: "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS)." [Orphanet:754]
subset: disease_grouping
subset: gard_rare {source="GARD:5803", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:754"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AIS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:300068, Orphanet:754]
synonym: "androgen insensitivity syndrome" EXACT [MONDO:Lexical, OMIM:300068]
synonym: "androgen insensitivity, X-linked recessive" EXACT [OMIM:300068, OMIM:genemap2]
synonym: "androgen receptor deficiency" RELATED [OMIM:300068]
synonym: "androgen resistance syndrome" EXACT [Orphanet:754]
synonym: "androgen-insensitivity syndrome" EXACT [DOID:4674]
synonym: "AR deficiency" RELATED [OMIM:300068]
synonym: "DHTR deficiency" RELATED [OMIM:300068]
synonym: "dihydrotestosterone receptor deficiency" RELATED [OMIM:300068]
synonym: "Feminisation - testicular" RELATED [DOID:4674]
synonym: "Goldberg - Maxwell syndrome" EXACT [DOID:4674]
synonym: "Goldberg-Maxwell syndrome" EXACT [DOID:4674, Orphanet:754]
synonym: "Morris syndrome" EXACT [Orphanet:754]
synonym: "testicular feminization" EXACT [DOID:4674]
synonym: "testicular feminization syndrome" EXACT [DOID:4674, MTH:NOCODE, NCIT:C27226, OMIM:300068, Orphanet:754]
synonym: "testicular feminization syndrome (formerly)" RELATED [GARD:0005803]
xref: DOID:4674 {source="MONDO:equivalentTo"}
xref: GARD:5803 {source="MONDO:GARD"}
xref: ICD10CM:E34.5 {source="DOID:4674", source="Orphanet:754", source="Orphanet:99429", source="Orphanet:754/e", source="Orphanet:754/specific"}
xref: ICD10CM:E34.50 {source="DOID:4674"}
xref: ICD10CM:E34.51 {source="DOID:4674"}
xref: ICD9:259.5 {source="DOID:4674"}
xref: ICD9:259.51 {source="DOID:4674", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056292 {source="Orphanet:754", source="Orphanet:754/e"}
xref: MEDGEN:21102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013734 {source="DOID:4674", source="Orphanet:754", source="MONDO:equivalentTo", source="Orphanet:754/e"}
xref: NANDO:2200391 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C120191 {source="DOID:4674"}
xref: NCIT:C27226 {source="DOID:4674", source="MONDO:equivalentTo"}
xref: OMIM:300068 {source="MONDO:equivalentTo", source="Orphanet:99429"}
xref: Orphanet:754 {source="MONDO:equivalentTo"}
xref: SCTID:12313004 {source="DOID:4674", source="MONDO:equivalentTo"}
xref: SCTID:154713003 {source="DOID:4674"}
xref: SCTID:190562003 {source="DOID:4674"}
xref: SCTID:237802009 {source="DOID:4674"}
xref: SCTID:267486007 {source="DOID:4674"}
xref: SCTID:368851000119102 {source="DOID:4674"}
xref: SCTID:52832001 {source="DOID:4674"}
xref: UMLS:C0039585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21102"}
is_a: MONDO:0002145 {source="DOID:4674", source="MESH:D013734/inferred", source="Orphanet:754/inferred"} ! disorder of sexual differentiation
is_a: MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:754", source="Orphanet:754/inferred"} ! endocrine system disorder
is_a: MONDO:0020040 {source="MESH:D013734", source="Orphanet:754/inferred"} ! 46,XY disorder of sex development
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:754", source="Orphanet:754/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_basis_in_disruption_of GO:0004879 ! nuclear receptor activity
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015511", source="MONDO:0015513", source="MONDO:0015960"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome" xsd:anyURI {source="GARD:0005803"}

[Term]
id: MONDO:0019155
name: Leydig cell hypoplasia
def: "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." [GARD:0003244]
subset: gard_rare {source="GARD:3244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:755"}
subset: orphanet_rare {source="Orphanet:755"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY disorder of sex development due to LH defects" RELATED [GARD:0003244]
synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [Orphanet:755]
synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [Orphanet:755]
synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT [Orphanet:755]
synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [Orphanet:755]
synonym: "Leydig cell agenesis" RELATED [GARD:0003244]
synonym: "LH resistance due to LH receptor deactivation" RELATED [GARD:0003244]
synonym: "Male hypergonadotropic hypogonadism due to LHCGR defect" RELATED [GARD:0003244]
synonym: "Male pseudohermaphroditism due to LH resistance or LHB deficiency" EXACT [Orphanet:755]
synonym: "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [GARD:0003244, Orphanet:755]
xref: DOID:0112259 {source="MONDO:equivalentTo"}
xref: GARD:3244 {source="MONDO:GARD"}
xref: ICD10CM:Q56.1 {source="Orphanet:755", source="Orphanet:755/attributed", source="Orphanet:755/ntbt"}
xref: MedDRA:10024406 {source="Orphanet:755", source="Orphanet:755/e"}
xref: MEDGEN:449533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562567 {source="MONDO:equivalentTo"}
xref: Orphanet:755 {source="GARD:0003244", source="MONDO:equivalentTo"}
xref: UMLS:C0860158 {source="MEDGEN:449533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
relationship: excluded_subClassOf MONDO:0005372 {source="MONDO:0018388-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! male infertility

[Term]
id: MONDO:0019156
name: angioosteohypotrophic syndrome
def: "Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported." [Orphanet:75508]
subset: gard_rare {source="GARD:18927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75508"}
subset: ordo_malformation_syndrome {source="Orphanet:75508"}
subset: orphanet_rare {source="Orphanet:75508"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Phlebectatic osteohypoplastic angiodysplasia" EXACT [Orphanet:75508]
synonym: "Servelle-Martorell syndrome" EXACT [Orphanet:75508]
xref: GARD:18927 {source="MONDO:GARD"}
xref: MEDGEN:1641209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:75508 {source="MONDO:equivalentTo"}
xref: SCTID:765750001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707561 {source="MEDGEN:1641209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005497 {source="PMID:8305978", source="https://orcid.org/0009-0001-6494-4831"} ! bone development disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0019157
name: myelodysplastic syndrome with ring sideroblasts
def: "Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS." [Orphanet:75564]
subset: gard_rare {source="GARD:8249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75564"}
subset: orphanet_rare {source="Orphanet:75564"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired idiopathic sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "acquired idiopathic sideroblastic anemia" EXACT [Orphanet:75564]
synonym: "AISA" EXACT ABBREVIATION [Orphanet:75564]
synonym: "MDS with ring sideroblasts" EXACT ABBREVIATION [doi:10.5772/intechopen.82532]
synonym: "MDS-RS" EXACT ABBREVIATION [NCIT:C4036]
synonym: "myelodysplastic syndrome with Ring sideroblasts" EXACT [NCIT:C4036]
synonym: "primary acquired sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "primary acquired sideroblastic anemia" EXACT [Orphanet:75564]
synonym: "Pure sideroblastic Anaemia" EXACT OMO:0003005 []
synonym: "Pure sideroblastic Anemia" EXACT [NCIT:C4036]
synonym: "RARS" EXACT ABBREVIATION [NCIT:C4036, Orphanet:75564]
synonym: "refractory Anaemia with Ring sideroblasts" EXACT OMO:0003005 []
synonym: "refractory Anaemia with ringed sideroblasts" EXACT OMO:0003005 []
synonym: "refractory anaemia with ringed sideroblasts" EXACT OMO:0003005 []
synonym: "refractory Anemia with Ring sideroblasts" EXACT [NCIT:C4036]
synonym: "refractory Anemia with ringed sideroblasts" EXACT [NCIT:C4036]
synonym: "refractory anemia with ringed sideroblasts" EXACT [Orphanet:75564]
xref: EFO:0003812 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8249 {source="MONDO:GARD"}
xref: ICD10CM:D64.3 {source="Orphanet:75564", source="Orphanet:75564/ntbt"}
xref: icd11.foundation:1793160341 {source="Orphanet:75564", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9982/3 {source="NCIT:C4036"}
xref: MEDGEN:865038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4036 {source="MONDO:equivalentTo", source="EFO:0003812"}
xref: Orphanet:75564 {source="MONDO:equivalentTo"}
xref: SCTID:109998009 {source="MONDO:equivalentTo"}
xref: UMLS:C4016601 {source="MEDGEN:865038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015194 {source="Orphanet:75564"} ! sideroblastic anemia
is_a: MONDO:0018881 {source="EFO:0003812", source="NCIT:C4036", source="Orphanet:75564"} ! myelodysplastic syndrome
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI

[Term]
id: MONDO:0019158
name: tropical endomyocardial fibrosis
def: "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occurring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition." [Orphanet:75565]
subset: gard_rare {source="GARD:18928", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75565"}
subset: orphanet_rare {source="Orphanet:75565"}
subset: rare
synonym: "Davies disease" EXACT [Orphanet:75565]
synonym: "TEMF" EXACT ABBREVIATION [Orphanet:75565]
xref: GARD:18928 {source="MONDO:GARD"}
xref: ICD10CM:I42.3 {source="Orphanet:75565/ntbt", source="Orphanet:75565"}
xref: MEDGEN:909153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:75565 {source="MONDO:equivalentTo"}
xref: SCTID:715626008 {source="MONDO:equivalentTo"}
xref: UMLS:C2882252 {source="MEDGEN:909153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016345 {source="Orphanet:75565"} ! non-familial restrictive cardiomyopathy

[Term]
id: MONDO:0019159
name: Loeffler endocarditis
def: "Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma." [Orphanet:75566]
subset: gard_rare {source="GARD:18929", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75566"}
subset: orphanet_rare {source="Orphanet:75566"}
subset: rare
synonym: "eosinophilic endocarditis" EXACT [Orphanet:75566]
synonym: "eosinophilic endomyocardial disease" EXACT [DOID:396, NCIT:C27044]
xref: DOID:396 {source="MONDO:equivalentTo"}
xref: GARD:18929 {source="MONDO:GARD"}
xref: ICD10CM:I42.3 {source="Orphanet:75566", source="Orphanet:75566/ntbt", source="DOID:396"}
xref: MedDRA:10052841 {source="Orphanet:75566", source="Orphanet:75566/e"}
xref: MEDGEN:104788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27044 {source="MONDO:equivalentTo", source="DOID:396"}
xref: Orphanet:75566 {source="MONDO:equivalentTo"}
xref: SCTID:33258008 {source="DOID:396"}
xref: SCTID:449829009 {source="MONDO:equivalentTo"}
xref: UMLS:C0206143 {source="MEDGEN:104788", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016345 {source="Orphanet:75566"} ! non-familial restrictive cardiomyopathy

[Term]
id: MONDO:0019160
name: primary progressive freezing gait
def: "Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments." [Orphanet:75567]
subset: gard_rare {source="GARD:18930", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:75567"}
subset: ordo_disorder {source="Orphanet:75567"}
subset: orphanet_rare {source="Orphanet:75567"}
subset: rare
synonym: "PPFG" EXACT ABBREVIATION [Orphanet:75567]
xref: GARD:18930 {source="MONDO:GARD"}
xref: MEDGEN:894846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:75567 {source="MONDO:equivalentTo"}
xref: SCTID:715627004 {source="MONDO:equivalentTo"}
xref: UMLS:C4275078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894846"}
is_a: MONDO:0005559 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
is_a: MONDO:0021095 ! parkinsonian disorder

[Term]
id: MONDO:0019161
name: pseudohypoaldosteronism type 1
def: "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." [Orphanet:756]
subset: gard_rare {source="GARD:16545", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:756"}
subset: orphanet_rare {source="Orphanet:756"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHA type 1" EXACT [Orphanet:756]
synonym: "PHA1B" EXACT ABBREVIATION [NCIT:C123251]
synonym: "pseudohypoaldosteronism type I autosomal recessive" EXACT [NCIT:C123251]
xref: GARD:16545 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:756/attributed", source="Orphanet:756/ntbt", source="Orphanet:756"}
xref: icd11.foundation:1576878036 {source="Orphanet:756", source="MONDO:equivalentTo"}
xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011546 {source="Orphanet:756", source="Orphanet:756/e"}
xref: NANDO:2200368 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123251 {source="MONDO:equivalentTo"}
xref: Orphanet:756 {source="MONDO:equivalentTo"}
xref: SCTID:43941006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82805"}
is_a: MONDO:0015962 {source="Orphanet:756"} ! inherited renal tubular disease
is_a: MONDO:0018638 {source="NCIT:C123251", source="Orphanet:756"} ! pseudohypoaldosteronism

[Term]
id: MONDO:0019162
name: pseudohypoaldosteronism type 2
def: "A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." [https://orcid.org/0000-0001-5208-3432, Orphanet:757]
subset: gard_rare {source="GARD:4553", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:757"}
subset: orphanet_rare {source="Orphanet:757"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chloride shunt syndrome" EXACT [Orphanet:757]
synonym: "familial hyperkalemic hypertension" EXACT [Orphanet:757]
synonym: "Gordon hyperkalemia-hypertension syndrome" EXACT [Orphanet:757]
synonym: "Gordon syndrome" RELATED [NCIT:C123252]
synonym: "hyperkalemia-hypertension syndrome, Gordon type" EXACT [Orphanet:757]
synonym: "hyperpotassemia and hypertension familial" RELATED [GARD:0004553]
synonym: "hypertensive hyperkalemia" EXACT [Orphanet:757]
synonym: "mineralocorticoid resistant hyperkalemia" EXACT [Orphanet:757]
synonym: "PHA2" EXACT ABBREVIATION [Orphanet:757]
synonym: "PHAII" EXACT ABBREVIATION [Orphanet:757]
synonym: "pseudohypoaldosteronism, type 2" EXACT []
synonym: "pseudohypoaldosteronism, type II" EXACT [OMIMPS:145260]
synonym: "Spitzer-Weinstein syndrome" EXACT [Orphanet:757]
xref: GARD:4553 {source="MONDO:GARD"}
xref: ICD10CM:I15.1 {source="Orphanet:757/attributed", source="Orphanet:757/ntbt", source="Orphanet:757"}
xref: ICD9:588.89
xref: MEDGEN:259599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200369 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123252 {source="MONDO:equivalentTo"}
xref: OMIMPS:145260 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:757 {source="MONDO:equivalentTo"}
xref: SCTID:15689008 {source="MONDO:equivalentTo"}
xref: UMLS:C1449844 {source="MEDGEN:259599", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018638 {source="NCIT:C123252", source="Orphanet:757"} ! pseudohypoaldosteronism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145260"} ! inherited

[Term]
id: MONDO:0019163
name: obsolete pseudoxanthoma elasticum
is_obsolete: true
replaced_by: MONDO:0009925

[Term]
id: MONDO:0019164
name: 6q terminal deletion syndrome
def: "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." [Orphanet:75857]
subset: gard_rare {source="GARD:18931", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75857"}
subset: ordo_malformation_syndrome {source="Orphanet:75857"}
subset: orphanet_rare {source="Orphanet:75857"}
subset: rare
xref: GARD:18931 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:75857", source="Orphanet:75857/attributed", source="Orphanet:75857/ntbt"}
xref: MEDGEN:930183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:75857 {source="MONDO:equivalentTo"}
xref: SCTID:719666002 {source="MONDO:equivalentTo"}
xref: UMLS:C4304514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930183"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0016905 {source="Orphanet:75857"} ! partial deletion of the long arm of chromosome 6
relationship: disease_arises_from_structure CHR:9606-chr6q {source="https://orcid.org/0000-0002-4142-7153"} ! 6q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0019165
name: central precocious puberty
def: "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." [Orphanet:759]
subset: gard_rare {source="GARD:16546", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:650063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CPP" EXACT ABBREVIATION [Orphanet:759]
synonym: "gonadotropin-dependant precocious puberty" EXACT [Orphanet:759]
synonym: "gonadotropin-dependent precocious puberty" EXACT []
synonym: "precocious puberty, central" EXACT [OMIMPS:176400]
xref: DOID:0112308 {source="MONDO:equivalentTo"}
xref: EFO:0009029 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16546 {source="MONDO:GARD"}
xref: ICD10CM:E22.8 {source="Orphanet:759", source="Orphanet:759/ntbt"}
xref: icd11.foundation:1749914533 {source="MONDO:equivalentTo", source="Orphanet:759"}
xref: ICD9:259.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562787 {source="MONDO:equivalentTo"}
xref: NANDO:1200381 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200377 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:176400 {source="MONDO:equivalentTo"}
xref: Orphanet:650063 {source="MONDO:equivalentTo"}
xref: Orphanet:759 {source="MONDO:equivalentTo"}
xref: SCTID:237816004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90985"}
is_a: MONDO:0000088 {source="MESH:C562787", source="Orphanet:759"} ! precocious puberty
intersection_of: MONDO:0000088 ! precocious puberty
intersection_of: disease_disrupts GO:0032274 ! gonadotropin secretion
relationship: excluded_subClassOf MONDO:0018561 {source="Orphanet:759", source="https://github.com/Orphanet/ORDO/issues/19", source="https://orcid.org/0000-0001-5208-3432"} ! precocious puberty in female
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:176400"} ! inherited

[Term]
id: MONDO:0019166
name: obsolete strongyloidiasis
is_obsolete: true
replaced_by: MONDO:0005974

[Term]
id: MONDO:0019167
name: immunoglobulin A vasculitis
def: "A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." [https://orcid.org/0000-0001-5208-3432, Orphanet:761]
subset: gard_rare {source="GARD:8204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:761"}
subset: orphanet_rare {source="Orphanet:761"}
subset: rare
synonym: "allergic purpura" EXACT [DOID:11123, ICD9CM:287.0]
synonym: "anaphylactoid purpura" EXACT [Orphanet:761]
synonym: "autoimmune purpura" EXACT [DOID:11123]
synonym: "Henoch Schonlein purpura" RELATED [GARD:0008204]
synonym: "Henoch-Schoenlein purpura" EXACT [DOID:11123, Orphanet:761]
synonym: "Henoch-Scholein purpura" EXACT [DOID:11123]
synonym: "Henoch-Schonlein purpura" EXACT [DOID:11123, NCIT:C34963]
synonym: "HSP" EXACT ABBREVIATION [NCIT:C34963]
synonym: "IgA vasculitis" EXACT [Orphanet:761]
synonym: "purpura rheumatica" EXACT [Orphanet:761]
synonym: "purpura, autoimmune" EXACT [DOID:11123]
synonym: "purpura, Schonlein-Henoch" RELATED [GARD:0008204]
synonym: "rheumatoid purpura" EXACT [Orphanet:761]
synonym: "Schoenlein-Henoch purpura" EXACT [NCIT:C34963]
synonym: "vascular purpura" RELATED [GARD:0008204]
xref: DOID:11123 {source="MONDO:equivalentTo", source="EFO:1000965"}
xref: GARD:8204 {source="MONDO:GARD"}
xref: ICD10CM:D69.0 {source="Orphanet:761/ntbt", source="DOID:11123", source="Orphanet:761"}
xref: icd11.foundation:1629105375 {source="MONDO:equivalentTo", source="Orphanet:761", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:287.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11123"}
xref: MEDGEN:48265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011695 {source="MONDO:equivalentTo", source="DOID:11123", source="EFO:1000965"}
xref: NCIT:C34963 {source="MONDO:equivalentTo", source="DOID:11123"}
xref: Orphanet:761 {source="MONDO:equivalentTo"}
xref: SCTID:154823001 {source="DOID:11123"}
xref: SCTID:191305009 {source="DOID:11123"}
xref: SCTID:191306005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:11123"}
xref: SCTID:191308006 {source="DOID:11123"}
xref: SCTID:21148002 {source="DOID:11123"}
xref: SCTID:246074004 {source="DOID:11123"}
xref: SCTID:267565009 {source="DOID:11123"}
xref: SCTID:31912009 {source="DOID:11123"}
xref: SCTID:367437009 {source="DOID:11123"}
xref: SCTID:86074002 {source="MONDO:equivalentTo"}
xref: UMLS:C0034152 {source="MONDO:equivalentTo", source="MEDGEN:48265", source="MONDO:MEDGEN"}
is_a: MONDO:0006794 {source="DOID:11123"} ! hypersensitivity vasculitis
is_a: MONDO:0015491 {source="Orphanet:761"} ! immune complex mediated vasculitis
is_a: MONDO:0018882 {source="MESH:D011695", source="NCIT:C34963"} ! vasculitis
is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:761", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4092" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0019168
name: pyomyositis
def: "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." [Orphanet:764]
subset: gard_rare {source="GARD:4614", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:764"}
subset: orphanet_rare {source="Orphanet:764"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myositis purulenta tropica" EXACT [Orphanet:764]
synonym: "myositis tropicans" EXACT [Orphanet:764]
synonym: "PM" EXACT ABBREVIATION [Orphanet:764]
synonym: "suppurative myositis" EXACT [Orphanet:764]
synonym: "tropical pyomyositis" EXACT [DOID:876, ICD9CM:040.81, Orphanet:764]
xref: DOID:876 {source="MONDO:equivalentTo"}
xref: EFO:1001409 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4614 {source="MONDO:GARD"}
xref: ICD10CM:M60.0 {source="Orphanet:764", source="DOID:876", source="Orphanet:764/ntbt"}
xref: ICD9:040.81 {source="DOID:876", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10037652 {source="Orphanet:764", source="Orphanet:764/e"}
xref: MEDGEN:52862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052880 {source="Orphanet:764", source="DOID:876", source="MONDO:equivalentTo", source="Orphanet:764/e"}
xref: NCIT:C128382 {source="MONDO:equivalentTo"}
xref: Orphanet:764 {source="MONDO:equivalentTo"}
xref: SCTID:186430009 {source="DOID:876"}
xref: SCTID:65110003 {source="DOID:876", source="MONDO:equivalentTo"}
xref: UMLS:C0041188 {source="MEDGEN:52862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="Orphanet:764"} ! bacterial infectious disease
is_a: MONDO:0021167 {source="DOID:876", source="MESH:D052880", source="NCIT:C128382"} ! myositis disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4614/pyomyositis" xsd:anyURI {source="GARD:0004614"}

[Term]
id: MONDO:0019169
name: pyruvate dehydrogenase deficiency
def: "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." [Orphanet:765]
subset: gard_rare {source="GARD:7513", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1641"}
subset: ordo_disorder {source="Orphanet:765"}
subset: orphanet_rare {source="Orphanet:765"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deficiency of pyruvic dehydrogenase" EXACT [DOID:3649]
synonym: "PDH" EXACT ABBREVIATION [Orphanet:765]
synonym: "PDHC" EXACT ABBREVIATION [Orphanet:765]
synonym: "pyruvate decarboxylase deficiency" EXACT [MONDO:0005934]
synonym: "Pyruvate Dehydrogenase Complex Deficiency" EXACT [NORD:1641]
synonym: "pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:765]
synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [DOID:3649]
synonym: "pyruvate dehydrogenase deficiency" EXACT [DOID:3649]
xref: DOID:3649 {source="EFO:0007459", source="MONDO:equivalentTo"}
xref: GARD:7513 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:765/ntbt", source="Orphanet:765", source="DOID:3649", source="Orphanet:765/inclusion"}
xref: icd11.foundation:1124597954 {source="Orphanet:765", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:19610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015325 {source="Orphanet:765", source="EFO:0007459", source="Orphanet:765/e", source="DOID:3649"}
xref: NANDO:2200518 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C103968 {source="MONDO:equivalentTo", source="DOID:3649"}
xref: NORD:1641 {source="MONDO:NORD"}
xref: OMIMPS:312170 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:765 {source="MONDO:equivalentTo"}
xref: Orphanet:79243 {source="DOID:3649"}
xref: SCTID:124160001 {source="DOID:3649"}
xref: SCTID:124593001 {source="DOID:3649"}
xref: SCTID:190761008 {source="DOID:3649"}
xref: SCTID:46683007 {source="MONDO:equivalentTo", source="DOID:3649"}
xref: UMLS:C0034345 {source="MONDO:equivalentTo", source="MEDGEN:19610", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016789 {source="Orphanet:765"} ! pyruvate metabolism disorder
is_a: MONDO:0019214 {source="DOID:3649", source="EFO:0007459"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0020127 ! hereditary peripheral neuropathy
is_a: MONDO:0100033 ! metabolic epilepsy
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_dysfunction_of GO:0045254 ! pyruvate dehydrogenase complex
relationship: disease_has_basis_in_disruption_of GO:0004737 ! pyruvate decarboxylase activity
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:312170"} ! inherited

[Term]
id: MONDO:0019170
name: polyarteritis nodosa
def: "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney." [Orphanet:767]
subset: gard_rare {source="GARD:7360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1588"}
subset: ordo_disorder {source="Orphanet:767"}
subset: orphanet_rare {source="Orphanet:767"}
subset: rare
synonym: "classic polyarteritis nodosa" EXACT [NCIT:C26847]
synonym: "classical polyarteritis nodosa" EXACT [NCIT:C26847]
synonym: "Küssmaul-Maier disease" EXACT [Orphanet:767]
synonym: "PAN" EXACT ABBREVIATION [NCIT:C26847, Orphanet:767]
synonym: "panarteritis nodosa" EXACT [NCIT:C26847]
synonym: "periarteritis" RELATED [GARD:0007360]
synonym: "periarteritis nodosa" EXACT [NCIT:C26847, Orphanet:767]
synonym: "polyarteritis" RELATED [GARD:0007360]
synonym: "polyarteritis nodosa" EXACT [NCIT:C26847]
xref: DOID:9810 {source="MONDO:equivalentTo"}
xref: GARD:7360 {source="MONDO:GARD"}
xref: ICD10CM:M30.0 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e"}
xref: icd11.foundation:1419332129 {source="Orphanet:767", source="MONDO:equivalentTo"}
xref: ICD9:446.0 {source="DOID:9810", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10036024 {source="Orphanet:767", source="Orphanet:767/e"}
xref: MEDGEN:14681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010488 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e"}
xref: NANDO:1200261 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200425 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26847 {source="DOID:9810", source="MONDO:equivalentTo"}
xref: NORD:1588 {source="MONDO:NORD"}
xref: Orphanet:767 {source="MONDO:equivalentTo"}
xref: SCTID:155441006 {source="DOID:9810", source="MONDO:equivalentTo"}
xref: SCTID:155445002 {source="DOID:9810"}
xref: SCTID:195347004 {source="DOID:9810"}
xref: SCTID:266323005 {source="DOID:9810"}
xref: SCTID:286960005 {source="DOID:9810"}
xref: SCTID:66121003 {source="DOID:9810"}
xref: UMLS:C0031036 {source="MEDGEN:14681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0043494 {source="MESH:D010488", source="NCIT:C26847"} ! arteritis
relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:767", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:767", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0019171
name: familial long QT syndrome
def: "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias." [Orphanet:768]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16547", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1675"}
subset: ordo_disorder {source="Orphanet:101016"}
subset: ordo_group_of_disorders {source="Orphanet:768"}
subset: orphanet_rare {source="Orphanet:101016"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital long QT syndrome" EXACT [Orphanet:768]
synonym: "familial long QT syndrome" EXACT CLINGEN_LABEL []
synonym: "hereditary long QT syndrome" EXACT [MONDO:patterns/hereditary]
synonym: "Long QT Syndrome" EXACT [NORD:1675]
synonym: "LQTS" EXACT ABBREVIATION [Orphanet:768]
synonym: "Romano-Ward long QT syndrome" EXACT [Orphanet:101016]
synonym: "Romano-Ward syndrome" EXACT [OMIM:192500]
synonym: "Ward-Romano syndrome" EXACT [OMIM:192500]
xref: GARD:16547 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="Orphanet:768/attributed", source="Orphanet:768/ntbt", source="Orphanet:768"}
xref: icd11.foundation:1208831985 {source="Orphanet:101016", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MedDRA:10057926 {source="Orphanet:768", source="Orphanet:768/e"}
xref: MEDGEN:685787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200228 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1675 {source="MONDO:NORD"}
xref: OMIMPS:192500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:101016 {source="OMIM:192500", source="MONDO:equivalentTo"}
xref: Orphanet:768 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:442917000 {source="MONDO:equivalentTo"}
xref: UMLS:C1141890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:685787"}
is_a: MONDO:0002442 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! long QT syndrome
intersection_of: MONDO:0002442 ! long QT syndrome
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:192500"} ! inherited

[Term]
id: MONDO:0019172
name: aniridia
def: "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia)." [Orphanet:77]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "aplasia of iris" EXACT [DOID:12271]
xref: DOID:12271 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q13.1 {source="Orphanet:77/attributed", source="Orphanet:77/ntbt", source="Orphanet:77", source="DOID:12271"}
xref: ICD9:743.45 {source="MONDO:equivalentTo", source="DOID:12271", source="MONDO:i2s"}
xref: MedDRA:10002532 {source="Orphanet:77", source="Orphanet:77/e"}
xref: MEDGEN:1941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538293 {source="Orphanet:77", source="Orphanet:77/e"}
xref: MESH:D015783 {source="Orphanet:77", source="MONDO:equivalentTo", source="DOID:12271", source="Orphanet:77/e"}
xref: NANDO:1201001 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84563 {source="MONDO:equivalentTo", source="DOID:12271", source="MONDO:exact-label-match"}
xref: Orphanet:77 {source="MONDO:equivalentObsolete"}
xref: SCTID:204161008 {source="DOID:12271"}
xref: SCTID:69278003 {source="MONDO:equivalentTo", source="DOID:12271"}
xref: UMLS:C0003076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1941"}
is_a: MONDO:0002289 {source="DOID:12271", source="MESH:D015783"} ! iris disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5816/aniridia" xsd:anyURI {source="GARD:0005816"}

[Term]
id: MONDO:0019173
name: rabies
def: "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." [Orphanet:770]
subset: gard_rare {source="GARD:7516", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1644"}
subset: ordo_disorder {source="Orphanet:770"}
subset: orphanet_rare {source="Orphanet:770"}
subset: rare
synonym: "lyssa" EXACT [DOID:11260]
xref: DOID:11260 {source="MONDO:equivalentTo"}
xref: GARD:7516 {source="MONDO:GARD"}
xref: ICD10CM:A82 {source="DOID:11260", source="MONDO:equivalentTo"}
xref: ICD10CM:A82.0 {source="Orphanet:770/btnt", source="Orphanet:770"}
xref: ICD10CM:A82.1 {source="Orphanet:770/btnt", source="Orphanet:770"}
xref: ICD10CM:A82.9 {source="DOID:11260", source="Orphanet:770/btnt", source="Orphanet:770"}
xref: icd11.foundation:854762584 {source="MONDO:equivalentTo", source="Orphanet:770"}
xref: ICD9:071 {source="DOID:11260", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10037742 {source="Orphanet:770/e", source="Orphanet:770"}
xref: MEDGEN:48308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011818 {source="Orphanet:770/e", source="DOID:11260", source="MONDO:equivalentTo", source="Orphanet:770"}
xref: NCIT:C28182 {source="DOID:11260", source="MONDO:equivalentTo"}
xref: NORD:1644 {source="MONDO:NORD"}
xref: Orphanet:770 {source="MONDO:equivalentTo"}
xref: SCTID:14168008 {source="DOID:11260", source="MONDO:equivalentTo"}
xref: SCTID:186644005 {source="DOID:11260"}
xref: SCTID:187393002 {source="DOID:11260"}
xref: SCTID:275370001 {source="DOID:11260"}
xref: UMLS:C0034494 {source="MEDGEN:48308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:11260", source="MESH:D011818/inferred", source="MONDO:Redundant", source="NCIT:C28182", source="Orphanet:770"} ! viral infectious disease
is_a: MONDO:0020010 {source="Orphanet:770"} ! infectious disorder of the nervous system
relationship: disease_has_feature HP:0000713 ! Agitation
relationship: disease_has_feature HP:0000739 ! Anxiety
relationship: disease_has_feature HP:0001289 ! Confusion
relationship: disease_has_feature HP:0003470 ! Paralysis
relationship: disease_has_infectious_agent NCBITaxon:11292 {source="MONDO:Wikidata"} ! Lyssavirus rabies
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015576"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7516/rabies" xsd:anyURI {source="GARD:0007516"}

[Term]
id: MONDO:0019174
name: obsolete infantile Refsum disease
def: "OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." [Orphanet:772]
subset: ordo_disorder {source="Orphanet:772"}
xref: DOID:0050444 {source="MONDO:obsoleteEquivalent"}
xref: GARD:4648 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G60.1 {source="Orphanet:772/attributed", source="Orphanet:772/ntbt", source="Orphanet:772"}
xref: MESH:D052919 {source="MONDO:obsoleteEquivalent", source="Orphanet:772/e", source="Orphanet:772"}
xref: NANDO:1200762 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84789 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:772 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:238062008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3222" xsd:anyURI
is_obsolete: true
consider: MONDO:0100259

[Term]
id: MONDO:0019175
name: primary lymphedema
def: "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection." [NCIT:C48829]
subset: disease_grouping
subset: gard_rare {source="GARD:18932", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:77240"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "primary lymphedema" EXACT [NCIT:C48829]
synonym: "Troncular lymphatic malformation" EXACT [Orphanet:77240]
xref: GARD:18932 {source="MONDO:GARD"}
xref: ICD10CM:I89.0 {source="Orphanet:77240/attributed", source="Orphanet:77240/ntbt", source="Orphanet:77240"}
xref: icd11.foundation:794588197 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:77240"}
xref: MEDGEN:1804666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C48829 {source="MONDO:equivalentTo"}
xref: Orphanet:77240 {source="MONDO:equivalentTo"}
xref: UMLS:C5576443 {source="MEDGEN:1804666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019297 {source="NCIT:C48829", source="Orphanet:77240"} ! lymphedema

[Term]
id: MONDO:0019176
name: obsolete trichorhinophalangeal syndrome type I or III
def: "OBSOLETE. Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones." [Orphanet:77258]
subset: ordo_disorder {source="Orphanet:77258"}
subset: otar {source="MONDO:OTAR"}
synonym: "trichorhinophalangeal syndrome type 1 and 3" EXACT [Orphanet:77258]
xref: GARD:15017 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q87.1 {source="Orphanet:77258", source="Orphanet:77258/attributed", source="Orphanet:77258/ntbt"}
xref: Orphanet:77258 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019177
name: odontoleukodystrophy
def: "Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." [Orphanet:77295]
subset: gard_rare {source="GARD:9632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:77295"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dentoleukoencephalopathy" EXACT [Orphanet:77295]
synonym: "leukodystrophy with oligodontia" EXACT [Orphanet:77295]
xref: GARD:9632 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:77295/attributed", source="Orphanet:77295/ntbt", source="Orphanet:77295"}
xref: MEDGEN:502456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:77295 {source="MONDO:equivalentTo"}
xref: SCTID:722064003 {source="MONDO:equivalentTo"}
xref: UMLS:C3502054 {source="MEDGEN:502456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="Orphanet:77295"} ! leukodystrophy
relationship: excluded_subClassOf MONDO:0011897 {source="https://orcid.org/0000-0001-5208-3432"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

[Term]
id: MONDO:0019178
name: auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
def: "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." [Orphanet:77300]
subset: gard_rare {source="GARD:18933", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:77300"}
subset: ordo_malformation_syndrome {source="Orphanet:77300"}
subset: orphanet_rare {source="Orphanet:77300"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18933 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:77300/attributed", source="Orphanet:77300/ntbt", source="Orphanet:77300"}
xref: MEDGEN:1378358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:77300 {source="MONDO:equivalentTo"}
xref: UMLS:C4518478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378358"}
is_a: MONDO:0015161 {source="Orphanet:77300"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability

[Term]
id: MONDO:0019179
name: monosomy 9q22.3
def: "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." [Orphanet:77301]
subset: gard_rare {source="GARD:18934", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:77301"}
subset: ordo_malformation_syndrome {source="Orphanet:77301"}
subset: orphanet_rare {source="Orphanet:77301"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microdeletion 9q22.3" EXACT [Orphanet:77301]
xref: GARD:18934 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:77301", source="Orphanet:77301/attributed", source="Orphanet:77301/ntbt"}
xref: MEDGEN:777998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579873 {source="MONDO:equivalentTo"}
xref: Orphanet:77301 {source="MONDO:equivalentTo"}
xref: SCTID:724098008 {source="MONDO:equivalentTo"}
xref: UMLS:C3711390 {source="MONDO:equivalentTo", source="MEDGEN:777998", source="MONDO:MEDGEN"}
is_a: MONDO:0016908 {source="Orphanet:77301"} ! partial monosomy of the long arm of chromosome 9
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr9q22.3 ! 9q22.3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0019180
name: hereditary hemorrhagic telangiectasia
def: "A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." [Orphanet:774]
subset: gard_rare {source="GARD:6626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1229"}
subset: ordo_disorder {source="Orphanet:774"}
subset: orphanet_rare {source="Orphanet:774"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary hemorrhagic telangiectasia" EXACT CLINGEN_LABEL []
synonym: "HHT" EXACT ABBREVIATION [Orphanet:774]
synonym: "Osler hemorrhagic telangiectasia syndrome" EXACT [DOID:1270]
synonym: "Osler-Weber-Rendu disease" EXACT [DOID:1270, NCIT:C35064]
synonym: "Rendu-Osler disease" EXACT [Orphanet:774]
synonym: "Rendu-Osler-Weber disease" EXACT [DOID:1270, Orphanet:774]
synonym: "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler" EXACT [NCIT:C35064]
synonym: "telangiectasia, hereditary hemorrhagic" EXACT [OMIMPS:187300]
xref: DOID:1270 {source="MONDO:equivalentTo"}
xref: GARD:6626 {source="MONDO:GARD"}
xref: ICD10CM:I78.0 {source="Orphanet:774", source="MONDO:equivalentTo", source="Orphanet:774/e", source="DOID:1270", source="Orphanet:774/specific"}
xref: icd11.foundation:714406192 {source="Orphanet:774", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:448.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1270"}
xref: MedDRA:10019883 {source="Orphanet:774", source="Orphanet:774/e"}
xref: MEDGEN:52657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013683 {source="MONDO:equivalentTo", source="DOID:1270"}
xref: NANDO:1200744 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100296 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201034 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35064 {source="MONDO:equivalentTo", source="DOID:1270"}
xref: NORD:1229 {source="MONDO:NORD"}
xref: OMIMPS:187300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:774 {source="MONDO:equivalentTo", source="DOID:1270"}
xref: SCTID:155449008 {source="DOID:1270"}
xref: SCTID:21877004 {source="MONDO:equivalentTo", source="DOID:1270"}
xref: SCTID:266324004 {source="DOID:1270"}
xref: UMLS:C0039445 {source="MEDGEN:52657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:774"} ! disease
is_a: MONDO:0000426 {source="DOID:1270", source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0001576 {source="MESH:D013683", source="NCIT:C35064"} ! telangiectasis
is_a: MONDO:0003847 {source="DOID:1270/inferred", source="MONDO:Redundant", source="NCIT:C35064", source="Orphanet:774/inferred"} ! hereditary disease
is_a: MONDO:0016231 {source="MONDO:Redundant", source="Orphanet:774"} ! capillary malformation
is_a: MONDO:0019755 ! developmental defect during embryogenesis
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0019293 {source="Orphanet:774", source="https://orcid.org/0000-0001-5208-3432"} ! skin vascular disease
relationship: has_characteristic HP:0000006 {source="Orphanet:774"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113", source="MONDO:0015948", source="MONDO:0018728"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:187300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0019181
name: non-syndromic X-linked intellectual disability
def: "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX." [Orphanet:777]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:777"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:777"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, nonsyndromic, X-linked" EXACT [OMIMPS:309530]
synonym: "intellectual disability, X-linked, nonsyndromic" EXACT [MONDO:0000168]
synonym: "isolated X-linked intellectual disability" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "mental retardation, nonsyndromic, X-linked" EXACT DEPRECATED [OMIMPS:309530]
synonym: "mental retardation, X-linked, nonsyndromic" EXACT DEPRECATED [MONDO:0000168]
synonym: "non-specific X-linked intellectual disability" EXACT [DOID:0050776]
synonym: "non-specific X-linked mental retardation" EXACT DEPRECATED [DOID:0050776]
synonym: "non-syndromic intellectual disability, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked]
synonym: "non-syndromic X-linked intellectual disability" EXACT CLINGEN_LABEL []
synonym: "nonsyndromic X-linked intellectual disability" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "X-linked non-specific intellectual disability" EXACT [Orphanet:777]
synonym: "X-linked non-syndromic intellectual disability" EXACT [Orphanet:777]
xref: DOID:0050776 {source="MONDO:equivalentTo"}
xref: GARD:18640 {source="MONDO:GARD"}
xref: MEDGEN:502019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564490 {source="MONDO:equivalentTo"}
xref: OMIMPS:309530 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="MONDO:equivalentTo", source="DOID:0050776"}
xref: UMLS:C3501611 {source="MONDO:equivalentTo", source="MEDGEN:502019", source="MONDO:MEDGEN"}
is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:777"} ! non-syndromic intellectual disability
is_a: MONDO:0100284 {source="https://clinicalgenome.org/affiliation/40006/", source="https://github.com/monarch-initiative/mondo/issues/2670"} ! X-linked intellectual disability
intersection_of: MONDO:0000509 ! non-syndromic intellectual disability
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015108"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:309530"} ! inherited

[Term]
id: MONDO:0019182
name: inherited obesity
subset: disease_grouping
subset: gard_rare {source="GARD:18935", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:77828"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic obesity" EXACT []
synonym: "genetic obesity (disease)" EXACT [MONDO:patterns/genetic, Orphanet:77828]
synonym: "leanness, inherited, autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2]
synonym: "monogenic obesity" EXACT CLINGEN_LABEL []
synonym: "obesity, association with, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2]
synonym: "obesity, early-onset, susceptibility to, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2]
synonym: "obesity, late-onset, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2]
synonym: "obesity, mild, early-onset, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2]
synonym: "obesity, severe, and type II diabetes, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2]
synonym: "obesity, severe, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2]
synonym: "obesity, susceptibility to, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2]
xref: GARD:18935 {source="MONDO:GARD"}
xref: ICD10CM:E66.8 {source="Orphanet:77828/attributed", source="Orphanet:77828/ntbt", source="Orphanet:77828"}
xref: MEDGEN:885912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601665 {source="MONDO:equivalentTo"}
xref: Orphanet:77828 {source="MONDO:equivalentTo"}
xref: UMLS:C4054476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:885912"}
is_a: MONDO:0005151 {source="Orphanet:77828"} ! endocrine system disorder
is_a: MONDO:0011122 {source="MONDO:Redundant", source="Orphanet:77828"} ! obesity disorder
intersection_of: MONDO:0011122 ! obesity disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0015960 {source="Orphanet:77828", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015513"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0019183
name: obsolete inherited odontologic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:77830"}
xref: GARD:18936 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:77830 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0006999

[Term]
id: MONDO:0019184
name: obsolete ankylostomiasis
is_obsolete: true
replaced_by: MONDO:0005645

[Term]
id: MONDO:0019185
name: obsolete rhabdomyosarcoma
synonym: "obsolete rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000589 "obsolete rhabdomyosarcoma (disease)" xsd:string
is_obsolete: true
replaced_by: MONDO:0005212

[Term]
id: MONDO:0019186
name: Q fever
def: "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." [NCIT:C34970]
subset: gard_rare {source="GARD:7515", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1643"}
subset: ordo_disorder {source="Orphanet:781"}
subset: orphanet_rare {source="Orphanet:781"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Coxiella burnetii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Coxiella burnetii disease or disorder" EXACT []
synonym: "Coxiella burnetii fever" RELATED [GARD:0007515]
synonym: "Coxiella burnetii infectious disease" EXACT []
synonym: "Coxiellosis" EXACT [Orphanet:781]
synonym: "infection due to Coxiella burnetii" EXACT [Orphanet:781]
synonym: "nine Mile fever" EXACT [Orphanet:781]
synonym: "Q fever pneumonia" RELATED [GARD:0007515]
synonym: "quadrilateral fever" EXACT [Orphanet:781]
synonym: "query fever" EXACT [Orphanet:781]
xref: DOID:11100 {source="EFO:0005224", source="MONDO:equivalentTo"}
xref: EFO:0005224 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7515 {source="MONDO:GARD"}
xref: ICD10CM:A78 {source="Orphanet:781/e", source="MONDO:equivalentTo", source="DOID:11100", source="Orphanet:781"}
xref: icd11.foundation:2113860626 {source="MONDO:equivalentTo", source="Orphanet:781"}
xref: ICD9:083.0 {source="EFO:0005224", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11100"}
xref: MedDRA:10037688 {source="Orphanet:781/e", source="Orphanet:781"}
xref: MedDRA:10037731 {source="Orphanet:781/e", source="Orphanet:781"}
xref: MEDGEN:48290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011778 {source="EFO:0005224", source="Orphanet:781/e", source="MONDO:equivalentTo", source="DOID:11100", source="Orphanet:781"}
xref: NCIT:C34970 {source="EFO:0005224", source="MONDO:equivalentTo", source="DOID:11100"}
xref: NORD:1643 {source="MONDO:NORD"}
xref: Orphanet:781 {source="MONDO:equivalentTo"}
xref: SCTID:154375001 {source="DOID:11100"}
xref: SCTID:186788009 {source="EFO:0005224", source="MONDO:equivalentTo", source="DOID:11100"}
xref: SCTID:260588007 {source="DOID:11100"}
xref: SCTID:266205000 {source="DOID:11100"}
xref: SCTID:86012006 {source="DOID:11100"}
xref: UMLS:C0034362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48290"}
is_a: MONDO:0000314 {source="DOID:11100"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11100/inferred", source="EFO:0005224", source="MESH:D011778/inferred", source="MONDO:Redundant", source="NCIT:C34970", source="Orphanet:781"} ! bacterial infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:777 ! Coxiella burnetii
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_infectious_agent NCBITaxon:777 {source="MONDO:Wikidata"} ! Coxiella burnetii
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7515/q-fever" xsd:anyURI {source="GARD:0007515"}

[Term]
id: MONDO:0019187
name: Axenfeld-Rieger syndrome
def: "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." [Orphanet:782]
subset: gard_rare {source="GARD:5701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1670"}
subset: ordo_disorder {source="Orphanet:782"}
subset: ordo_malformation_syndrome {source="Orphanet:782"}
subset: orphanet_rare {source="Orphanet:782"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anomaly, Rieger's" EXACT [DOID:14686]
synonym: "Axenfeld syndrome" EXACT [DOID:14686, Orphanet:782]
synonym: "Axenfeldt-Rieger syndrome" EXACT [NCIT:C131001]
synonym: "goniodysgenesis hypodontia" RELATED [GARD:0005701]
synonym: "Hagedoom syndrome" RELATED [DOID:14686]
synonym: "iridogoniodysgenesis with somatic anomalies" RELATED [GARD:0005701]
synonym: "RGS - Rieger syndrome" EXACT [DOID:14686]
synonym: "Rieger syndrome" EXACT [Orphanet:782]
synonym: "Rieger's anomaly" EXACT [DOID:14686]
xref: DOID:14686 {source="MONDO:equivalentTo"}
xref: GARD:5701 {source="MONDO:GARD"}
xref: ICD10CM:Q13.8 {source="Orphanet:782/attributed", source="Orphanet:782/ntbt", source="Orphanet:782"}
xref: ICD10CM:Q13.81 {source="DOID:14686"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10059255 {source="Orphanet:782/e", source="Orphanet:782"}
xref: MEDGEN:501192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535679 {source="Orphanet:782/e", source="MONDO:equivalentTo", source="Orphanet:782", source="DOID:14686"}
xref: NCIT:C131001 {source="MONDO:equivalentTo"}
xref: NORD:1670 {source="MONDO:NORD"}
xref: OMIMPS:180500 {source="MONDO:equivalentTo"}
xref: Orphanet:782 {source="MONDO:equivalentTo", source="DOID:14686"}
xref: SCTID:47507006 {source="MONDO:equivalentTo", source="DOID:14686"}
xref: SCTID:86628002 {source="DOID:14686"}
xref: UMLS:C3495488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501192"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131001"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:782"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021635 {source="MONDO:Redundant", source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: excluded_subClassOf MONDO:0011119 {source="Orphanet:782", source="https://orcid.org/0000-0001-5208-3432"} ! iridogoniodysgenesis
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:782", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
relationship: excluded_subClassOf MONDO:0015246 {source="Orphanet:782", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic anorectal malformation
relationship: excluded_subClassOf MONDO:0018762 {source="https://orcid.org/0000-0001-5208-3432"} ! non-acquired combined pituitary hormone deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:180500"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome" xsd:anyURI {source="GARD:0005701"}

[Term]
id: MONDO:0019188
name: Rubinstein-Taybi syndrome
def: "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." [Orphanet:783]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7593", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1682"}
subset: ordo_disorder {source="Orphanet:783"}
subset: ordo_malformation_syndrome {source="Orphanet:783"}
subset: orphanet_rare {source="Orphanet:783"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Broad thumb-hallux syndrome" EXACT [DOID:1933, Orphanet:783]
synonym: "Broad thumbs-halluces syndrome" EXACT [Orphanet:783]
synonym: "proximal chromosome 16p13.3 deletion syndrome" EXACT [DOID:1933]
synonym: "RSTS" RELATED ABBREVIATION [GARD:0007593]
synonym: "Rubinstein syndrome" EXACT [DOID:1933]
synonym: "Rubinstein-Taybi Syndrome" EXACT [DECIPHER:7]
xref: DECIPHER:7 {source="MONDO:equivalentTo"}
xref: DOID:1933 {source="MONDO:equivalentTo"}
xref: GARD:7593 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:783/ntbt", source="DOID:1933", source="Orphanet:783/inclusion", source="Orphanet:783"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10039281 {source="Orphanet:783/e", source="Orphanet:783"}
xref: MEDGEN:48517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012415 {source="Orphanet:783/e", source="MONDO:equivalentTo", source="DOID:1933", source="Orphanet:783"}
xref: NANDO:1200461 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200955 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75466 {source="MONDO:equivalentTo", source="DOID:1933"}
xref: NORD:1682 {source="MONDO:NORD"}
xref: OMIMPS:180849 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:783 {source="MONDO:equivalentTo", source="DOID:1933"}
xref: SCTID:157032007 {source="DOID:1933"}
xref: SCTID:45582004 {source="MONDO:equivalentTo", source="DOID:1933"}
xref: UMLS:C0035934 {source="MEDGEN:48517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:783", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:783", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-5002-8648"} ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
relationship: excluded_subClassOf MONDO:0000426 {source="DOID:1933", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant disease
relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:783", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity
relationship: excluded_subClassOf MONDO:0016756 {source="Orphanet:783", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited nervous system cancer-predisposing syndrome
relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:783", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly
relationship: has_characteristic HP:0000006 {source="Orphanet:783"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:180849"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0019189
name: inborn disorder of amino acid and other organic acid metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:18937", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79062"}
subset: rare
synonym: "disorder of amino acid and organic acid metabolism" EXACT []
synonym: "disorder of amino acid and other organic acid metabolism" RELATED [Orphanet:79062]
xref: GARD:18937 {source="MONDO:GARD"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79062 {source="MONDO:equivalentTo"}
xref: SCTID:237911005 {source="MONDO:equivalentTo"}
xref: UMLS:C0342666 {source="MONDO:equivalentTo", source="MEDGEN:575169", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:79062"} ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_disrupts GO:0006082 ! organic acid metabolic process

[Term]
id: MONDO:0019190
name: juvenile polyposis of infancy
def: "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." [Orphanet:79076]
subset: gard_rare {source="GARD:16696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79076"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "infantile juvenile polyposis syndrome" EXACT [Orphanet:79076]
synonym: "infantile onset juvenile polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "juvenile polyposis syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
xref: GARD:16696 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:79076", source="Orphanet:79076/attributed", source="Orphanet:79076/ntbt"}
xref: MEDGEN:1778573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79076 {source="MONDO:equivalentTo"}
xref: UMLS:C5445164 {source="MEDGEN:1778573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017380 {source="MONDO:Redundant", source="Orphanet:79076"} ! juvenile polyposis syndrome
intersection_of: MONDO:0017380 ! juvenile polyposis syndrome
intersection_of: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0019191
name: IgG4-related dacryoadenitis and sialadenitis
def: "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis." [Orphanet:79078]
subset: gard_rare {source="GARD:7043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79078"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic dacryoadenitis and sialadenitis" EXACT [Orphanet:79078]
synonym: "Mikulicz disease" EXACT [MONDO:0001599, NCIT:C34819, Orphanet:79078]
synonym: "Mikulicz disease (former)" RELATED [GARD:0007043]
synonym: "Mikulicz syndrome (former)" RELATED [GARD:0007043]
synonym: "Mikulicz's disease" EXACT [DOID:12900]
synonym: "Mikulicz's disease (former)" RELATED [GARD:0007043]
xref: DOID:12900 {source="MONDO:equivalentTo"}
xref: GARD:7043 {source="MONDO:GARD"}
xref: ICD10CM:K11.8 {source="DOID:12900", source="Orphanet:79078", source="Orphanet:79078/ntbt"}
xref: MedDRA:10051457 {source="Orphanet:79078/e", source="Orphanet:79078"}
xref: MedDRA:10052317 {source="Orphanet:79078/e", source="Orphanet:79078"}
xref: MEDGEN:6399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008882 {source="Orphanet:79078/e", source="DOID:12900", source="MONDO:equivalentTo", source="Orphanet:79078"}
xref: NANDO:1200929 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34819 {source="DOID:12900", source="NCIT:C34819", source="MONDO:equivalentTo"}
xref: Orphanet:79078 {source="MONDO:equivalentTo"}
xref: SCTID:196478007 {source="DOID:12900"}
xref: SCTID:7826003 {source="DOID:12900", source="MONDO:equivalentTo"}
xref: UMLS:C0026103 {source="MEDGEN:6399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001854 {source="DOID:12900", source="MONDO:Redundant"} ! lacrimal apparatus disorder
is_a: MONDO:0007179 {source="DOID:12900", source="MONDO:Redundant", source="NCIT:C34819"} ! autoimmune disease
is_a: MONDO:0017287 {source="Orphanet:79078"} ! IgG4-related disease
is_a: MONDO:0024623 {source="Orphanet:79078"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis" xsd:anyURI {source="GARD:0007043"}

[Term]
id: MONDO:0019192
name: AKT2-related familial partial lipodystrophy
subset: gard_rare {source="GARD:12599", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79085"}
subset: orphanet_rare {source="Orphanet:79085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AKT2-related FPLD" EXACT [Orphanet:79085]
synonym: "familial partial lipodystrophy due to AKT2 mutations" RELATED [GARD:0012599]
xref: GARD:12599 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:79085", source="Orphanet:79085/attributed", source="Orphanet:79085/ntbt"}
xref: MEDGEN:1810936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79085 {source="MONDO:equivalentTo"}
xref: UMLS:C5680134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810936"}
is_a: MONDO:0020088 {source="Orphanet:79085"} ! familial partial lipodystrophy

[Term]
id: MONDO:0019193
name: acquired generalized lipodystrophy
def: "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)." [Orphanet:79086]
subset: gard_rare {source="GARD:12603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79086"}
subset: orphanet_rare {source="Orphanet:79086"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired generalized lipodystrophy" EXACT [MONDO:patterns/acquired]
synonym: "acquired lipoatrophic diabetes" EXACT [Orphanet:79086]
synonym: "Lawrence syndrome" EXACT [DOID:0080300, Orphanet:79086]
synonym: "Lawrence-Seip syndrome" EXACT [Orphanet:79086]
xref: DOID:0080300 {source="MONDO:equivalentTo"}
xref: GARD:12603 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:79086", source="Orphanet:79086/ntbt"}
xref: MEDGEN:543499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200860 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131089 {source="MONDO:equivalentTo"}
xref: Orphanet:79086 {source="MONDO:equivalentTo"}
xref: SCTID:86907008 {source="MONDO:equivalentTo"}
xref: UMLS:C0271693 {source="MEDGEN:543499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006573 {source="DOID:0080300/inferred", source="MONDO:Redundant", source="NCIT:C131089"} ! lipodystrophy
is_a: MONDO:0020089 {source="MONDO:Redundant", source="Orphanet:79086"} ! acquired lipodystrophy
intersection_of: MONDO:0027766 ! generalized lipodystrophy
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy" xsd:anyURI {source="GARD:0012603"}

[Term]
id: MONDO:0019194
name: localized lipodystrophy
def: "Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body." [Orphanet:79088]
subset: disease_grouping
subset: gard_rare {source="GARD:5867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79088"}
subset: rare
synonym: "centrifugal lipodystrophy (subtype)" RELATED [GARD:0005867]
synonym: "drug-induced localised lipodystrophy (subtype)" RELATED OMO:0003005 []
synonym: "drug-induced localized lipodystrophy (subtype)" RELATED [GARD:0005867]
synonym: "focal lipodystrophy" EXACT [NCIT:C131814]
synonym: "idiopathic localised lipodystrophy (subtype)" RELATED OMO:0003005 []
synonym: "idiopathic localized lipodystrophy (subtype)" RELATED [GARD:0005867]
synonym: "panniculitis and localised lipodystrophy (subtype)" RELATED OMO:0003005 []
synonym: "panniculitis and localized lipodystrophy (subtype)" RELATED [GARD:0005867]
synonym: "pressure-induced localised lipoatrophy (subtype)" RELATED OMO:0003005 []
synonym: "pressure-induced localized lipoatrophy (subtype)" RELATED [GARD:0005867]
xref: GARD:5867 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:79088/ntbt", source="Orphanet:79088"}
xref: MEDGEN:1385527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131814 {source="MONDO:equivalentTo"}
xref: Orphanet:79088 {source="MONDO:equivalentTo"}
xref: UMLS:C4329999 {source="MEDGEN:1385527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006573 {source="MONDO:Redundant", source="NCIT:C131814"} ! lipodystrophy
relationship: excluded_subClassOf MONDO:0020089 {source="Orphanet:79088", source="https://orcid.org/0000-0001-5208-3432"} ! acquired lipodystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy" xsd:anyURI {source="GARD:0005867"}

[Term]
id: MONDO:0019195
name: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
def: "Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive." [Orphanet:79091]
subset: gard_rare {source="GARD:9494", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79091"}
subset: orphanet_rare {source="Orphanet:79091"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia" RELATED [GARD:0009494]
synonym: "Hereditary inclusion body myopathy type 3" RELATED [GARD:0009494]
synonym: "hereditary inclusion body myopathy type 3" EXACT [Orphanet:79091]
synonym: "HIBM3" EXACT ABBREVIATION [GARD:0009494, Orphanet:79091]
synonym: "IBM3" EXACT ABBREVIATION [GARD:0009494, Orphanet:79091]
synonym: "Inclusion body myopathy autosomal dominant" RELATED [GARD:0009494]
synonym: "inclusion body myopathy type 3" EXACT [Orphanet:79091]
synonym: "Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [GARD:0009494]
xref: GARD:9494 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:79091/attributed", source="Orphanet:79091/ntbt", source="Orphanet:79091"}
xref: MEDGEN:1382737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79091 {source="GARD:0009494", source="MONDO:equivalentTo"}
xref: SCTID:724349009 {source="MONDO:equivalentTo"}
xref: UMLS:C4510610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1382737"}
is_a: MONDO:0011577 ! myopathy, proximal, and ophthalmoplegia
is_a: MONDO:0016112 {source="Orphanet:79091"} ! hereditary inclusion-body myopathy

[Term]
id: MONDO:0019196
name: Foix-Alajouanine syndrome
def: "Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterized by progressive ascending deficit over a period of several months or years." [Orphanet:79093]
subset: gard_rare {source="GARD:4163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79093"}
subset: ordo_malformation_syndrome {source="Orphanet:79093"}
subset: orphanet_rare {source="Orphanet:79093"}
subset: rare
synonym: "angiodysgenetic necrotizing myelopathy" EXACT [Orphanet:79093]
synonym: "familial osteosclerosis with abnormalities of the nervous system and meninges" EXACT [Orphanet:79093]
synonym: "Subacute angiohypertrophic myelomalacia" EXACT [Orphanet:79093]
synonym: "Subacute ascending necrotizing myelitis" EXACT [Orphanet:79093]
synonym: "Subacute necrotizing myelitis" EXACT [Orphanet:79093]
xref: GARD:4163 {source="MONDO:GARD"}
xref: ICD10CM:G37.4 {source="Orphanet:79093/ntbt", source="Orphanet:79093"}
xref: icd11.foundation:937824238 {source="Orphanet:79093", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:141629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79093 {source="MONDO:equivalentTo"}
xref: SCTID:230379007 {source="MONDO:equivalentTo"}
xref: UMLS:C0472347 {source="MEDGEN:141629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001256 {source="Orphanet:79093"} ! arteriovenous hemangioma/malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare

[Term]
id: MONDO:0019197
name: folinic acid-responsive seizures
def: "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." [Orphanet:79097]
comment: Editor note: TODO request from CHEBI
subset: gard_rare {source="GARD:18938", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:79097"}
subset: orphanet_rare {source="Orphanet:79097"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Folinic acid responsive seizures" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html]
xref: GARD:18938 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:79097", source="Orphanet:79097/attributed", source="Orphanet:79097/ntbt"}
xref: MEDGEN:908191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79097 {source="MONDO:equivalentTo"}
xref: SCTID:717276003 {source="MONDO:equivalentTo"}
xref: UMLS:C4273952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908191"}
is_a: MONDO:0019253 {source="Orphanet:79097"} ! metabolic disease involving other neurotransmitter deficiency
is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#folinic" xsd:anyURI

[Term]
id: MONDO:0019198
name: sympathetic ophthalmia
def: "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye." [Orphanet:79098]
subset: gard_rare {source="GARD:18939", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79098"}
subset: orphanet_rare {source="Orphanet:79098"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sympathetic ophthalmia" EXACT [MONDO:0006991]
synonym: "sympathetic uveitis" EXACT [DOID:12029, ICD9CM:360.11, Orphanet:79098]
xref: DOID:12029 {source="MONDO:equivalentTo", source="EFO:1001205"}
xref: EFO:1001205 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18939 {source="MONDO:GARD"}
xref: ICD10CM:H44.1 {source="Orphanet:79098", source="Orphanet:79098/ntbt"}
xref: ICD10CM:H44.13 {source="DOID:12029"}
xref: ICD9:360.11 {source="DOID:12029", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10042742 {source="Orphanet:79098", source="EFO:1001205", source="Orphanet:79098/e"}
xref: MEDGEN:45203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009879 {source="DOID:12029", source="MONDO:equivalentTo", source="Orphanet:79098", source="EFO:1001205", source="Orphanet:79098/e"}
xref: Orphanet:79098 {source="MONDO:equivalentTo"}
xref: SCTID:75315001 {source="DOID:12029", source="MONDO:equivalentTo", source="EFO:1001205"}
xref: UMLS:C0029077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45203"}
is_a: MONDO:0017255 {source="DOID:12029", source="EFO:1001205", source="MESH:D009879"} ! panuveitis
is_a: MONDO:0017634 {source="Orphanet:79098"} ! non-infectious anterior uveitis

[Term]
id: MONDO:0019199
name: interstitial granulomatous dermatitis with arthritis
def: "Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes." [Orphanet:79099]
subset: gard_rare {source="GARD:18940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79099"}
subset: orphanet_rare {source="Orphanet:79099"}
subset: rare
synonym: "Ackerman dermatitis syndrome" EXACT [Orphanet:79099]
synonym: "IGDA" EXACT ABBREVIATION [Orphanet:79099]
xref: GARD:18940 {source="MONDO:GARD"}
xref: MEDGEN:1658052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79099 {source="MONDO:equivalentTo"}
xref: UMLS:C4751206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1658052"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
is_a: MONDO:0005554 {source="Orphanet:79099"} ! rheumatic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare

[Term]
id: MONDO:0019200
name: retinitis pigmentosa
def: "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." [Orphanet:791]
subset: gard_rare {source="GARD:5694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1661"}
subset: ordo_disorder {source="Orphanet:791"}
subset: orphanet_rare {source="Orphanet:791"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "pericentral pigmentary retinopathy" NARROW [DOID:10584]
synonym: "retinitis pigmentosa" EXACT CLINGEN_LABEL []
synonym: "Rod-cone dystrophy" RELATED [GARD:0005694]
xref: DOID:10584 {source="MONDO:equivalentTo"}
xref: GARD:5694 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:791/inclusion", source="Orphanet:791", source="Orphanet:791/ntbt", source="MONDO:directSiblingOf"}
xref: ICD10CM:H35.52 {source="DOID:10584"}
xref: MedDRA:10038914 {source="Orphanet:791/e", source="Orphanet:791"}
xref: MEDGEN:20551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538365 {source="DOID:10584"}
xref: MESH:D012174 {source="Orphanet:791/e", source="MONDO:equivalentTo", source="Orphanet:791", source="DOID:10584"}
xref: NANDO:1200431 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85045 {source="MONDO:equivalentTo", source="DOID:10584"}
xref: NORD:1661 {source="MONDO:NORD"}
xref: OMIM:268000 {source="Orphanet:791/e", source="MONDO:equivalentTo"}
xref: OMIMPS:268000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:791 {source="MONDO:equivalentTo", source="DOID:10584"}
xref: SCTID:155113002 {source="DOID:10584"}
xref: SCTID:28835009 {source="MONDO:equivalentTo", source="DOID:10584"}
xref: UMLS:C0035334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20551"}
is_a: MONDO:0004580 {source="DOID:10584", source="MESH:D012174/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! retinal degeneration
is_a: MONDO:0019118 {source="MESH:D012174", source="Orphanet:791"} ! inherited retinal dystrophy
is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid transport
relationship: excluded_subClassOf MONDO:0017688 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glycolysis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:268000"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5667" xsd:anyURI

[Term]
id: MONDO:0019201
name: thyrotoxic periodic paralysis
def: "Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state." [Orphanet:79102]
subset: gard_rare {source="GARD:10814", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79102"}
subset: orphanet_rare {source="Orphanet:79102"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thyrotoxic hypokalemic periodic paralysis" EXACT [Orphanet:79102]
xref: GARD:10814 {source="MONDO:GARD"}
xref: ICD10CM:G72.3 {source="Orphanet:79102/ntbt", source="Orphanet:79102"}
xref: MedDRA:10043788 {source="Orphanet:79102/e", source="Orphanet:79102"}
xref: MEDGEN:120639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:188580 {source="MONDO:equivalentTo"}
xref: Orphanet:79102 {source="MONDO:equivalentTo"}
xref: SCTID:30967002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268446 {source="MEDGEN:120639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000995 ! familial periodic paralysis
is_a: MONDO:0016122 {source="MONDO:Redundant", source="Orphanet:79102"} ! periodic paralysis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:188580"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis" xsd:anyURI {source="GARD:0010814"}

[Term]
id: MONDO:0019202
name: myxofibrosarcoma
def: "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." [NCIT:C6496]
subset: gard_rare {source="GARD:18941", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79105"}
subset: orphanet_rare {source="Orphanet:79105"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibromyxosarcoma" EXACT [Orphanet:79105]
synonym: "MFS" RELATED ABBREVIATION [ONCOTREE:MFS]
synonym: "myxofibrosarcoma" EXACT [NCIT:C6496]
synonym: "myxoid fibrous histiocytoma" EXACT [NCIT:C6496]
synonym: "myxoid malignant fibrous histiocytoma" EXACT [NCIT:C6496, Orphanet:79105]
synonym: "myxoid MFH" EXACT [NCIT:C6496]
xref: DOID:0080534 {source="MONDO:equivalentTo"}
xref: GARD:18941 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:79105", source="Orphanet:79105/ntbt"}
xref: icd11.foundation:405689402 {source="Orphanet:79105", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:8811/3 {source="NCIT:C6496"}
xref: MedDRA:10066948 {source="Orphanet:79105", source="Orphanet:79105/e"}
xref: MEDGEN:811359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6496 {source="MONDO:equivalentTo"}
xref: ONCOTREE:MFS {source="MONDO:equivalentTo"}
xref: Orphanet:79105 {source="MONDO:equivalentTo"}
xref: SCTID:253042009 {source="MONDO:equivalentTo"}
xref: UMLS:C3714524 {source="MEDGEN:811359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018078 {source="NCIT:C6496/inferred", source="Orphanet:79105"} ! soft tissue sarcoma
relationship: excluded_subClassOf MONDO:0016123 {source="Orphanet:79105", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular tumor

[Term]
id: MONDO:0019203
name: acute interstitial pneumonia
def: "Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia." [Orphanet:79126]
subset: gard_rare {source="GARD:12835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79126"}
subset: orphanet_rare {source="Orphanet:79126"}
subset: rare
synonym: "accelerated interstitial pneumonia" EXACT [DOID:2800]
synonym: "acute interstitial pneumonitis" EXACT [DOID:2800, Orphanet:79126]
synonym: "AIP" EXACT ABBREVIATION [DOID:2800, NCIT:C35806]
synonym: "Hamman-rich disease" EXACT [DOID:2800]
synonym: "Hamman-rich syndrome" EXACT [DOID:2800, Orphanet:79126]
synonym: "idiopathic pulmonary fibrosis, acute fatal form" EXACT [DOID:2800]
xref: DOID:2800 {source="MONDO:equivalentTo"}
xref: GARD:12835 {source="MONDO:GARD"}
xref: ICD10CM:J84.1 {source="Orphanet:79126/ntbt", source="Orphanet:79126"}
xref: ICD10CM:J84.114 {source="DOID:2800"}
xref: icd11.foundation:2116884221 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79126"}
xref: ICD9:516.33 {source="DOID:2800"}
xref: MedDRA:10066728 {source="Orphanet:79126/e", source="Orphanet:79126"}
xref: MEDGEN:224822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200420 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35806 {source="MONDO:equivalentTo", source="DOID:2800"}
xref: Orphanet:79126 {source="MONDO:equivalentTo"}
xref: SCTID:129459004 {source="DOID:2800"}
xref: SCTID:236302005 {source="MONDO:equivalentTo", source="DOID:2800"}
xref: SCTID:35037009 {source="DOID:2800"}
xref: SCTID:45157009 {source="DOID:2800"}
xref: UMLS:C1279945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224822"}
is_a: MONDO:0002429 {source="DOID:2800", source="MONDO:0019203/inferred", source="MONDO:Redundant", source="NCIT:C35806", source="Orphanet:79126"} ! idiopathic interstitial pneumonia
relationship: excluded_subClassOf MONDO:0008345 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete idiopathic pulmonary fibrosis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019204
name: respiratory bronchiolitis-interstitial lung disease syndrome
def: "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." [Orphanet:79127]
subset: gard_rare {source="GARD:18942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79127"}
subset: orphanet_rare {source="Orphanet:79127"}
subset: rare
synonym: "RB-ILD" EXACT [Orphanet:79127]
xref: GARD:18942 {source="MONDO:GARD"}
xref: ICD10CM:J68.4 {source="Orphanet:79127", source="Orphanet:79127/ntbt"}
xref: icd11.foundation:822500243 {source="Orphanet:79127", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10066393 {source="Orphanet:79127", source="Orphanet:79127/e"}
xref: MEDGEN:1672485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79127 {source="MONDO:equivalentTo"}
xref: UMLS:C1735355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672485"}
is_a: MONDO:0002429 {source="Orphanet:79127"} ! idiopathic interstitial pneumonia

[Term]
id: MONDO:0019205
name: trichodysplasia-amelogenesis imperfecta syndrome
def: "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked." [Orphanet:79129]
subset: gard_rare {source="GARD:18943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79129"}
subset: ordo_malformation_syndrome {source="Orphanet:79129"}
subset: orphanet_rare {source="Orphanet:79129"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18943 {source="MONDO:GARD"}
xref: MEDGEN:930013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79129 {source="MONDO:equivalentTo"}
xref: UMLS:C4304344 {source="MEDGEN:930013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:79129"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0019206
name: obsolete sparse hair-short stature-skin anomalies syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7150" xsd:string
is_obsolete: true
replaced_by: MONDO:0008562

[Term]
id: MONDO:0019207
name: DEND syndrome
def: "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." [Orphanet:79134]
subset: gard_rare {source="GARD:16701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79134"}
subset: orphanet_rare {source="Orphanet:79134"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "developmental delay-epilepsy-neonatal diabetes syndrome" EXACT [Orphanet:79134]
synonym: "K ATP associated developmental delay, epilepsy and neonatal diabetes" EXACT [NCIT:C131845]
xref: GARD:16701 {source="MONDO:GARD"}
xref: ICD10CM:P70.2 {source="Orphanet:79134/attributed", source="Orphanet:79134/ntbt", source="Orphanet:79134"}
xref: MEDGEN:929262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131845 {source="MONDO:equivalentTo"}
xref: Orphanet:79134 {source="MONDO:equivalentTo"}
xref: SCTID:721088003 {source="MONDO:equivalentTo"}
xref: UMLS:C4303593 {source="MEDGEN:929262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100164 ! permanent neonatal diabetes mellitus
relationship: excluded_subClassOf MONDO:0015650 {source="Orphanet:79134", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome

[Term]
id: MONDO:0019208
name: Bickerstaff brainstem encephalitis
def: "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." [Orphanet:79138]
subset: gard_rare {source="GARD:18944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79138"}
subset: orphanet_rare {source="Orphanet:79138"}
subset: rare
xref: GARD:18944 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:79138", source="Orphanet:79138/ntbt"}
xref: ICD9:323.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:743311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200551 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:79138 {source="MONDO:equivalentTo"}
xref: SCTID:427086003 {source="MONDO:equivalentTo"}
xref: UMLS:C1960543 {source="MEDGEN:743311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020068 {source="Orphanet:79138"} ! postinfectious encephalitis

[Term]
id: MONDO:0019209
name: Japanese encephalitis
def: "A disease due to a virus transmitted by an arthropod)." [Orphanet:79139]
subset: gard_rare {source="GARD:6797", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1088"}
subset: ordo_disorder {source="Orphanet:79139"}
subset: orphanet_rare {source="Orphanet:79139"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Encephalitis, Japanese" EXACT [NORD:1088]
synonym: "Japanese B encephalitis" EXACT [DOID:10844]
synonym: "JE" RELATED ABBREVIATION [GARD:0006797]
xref: DOID:10844 {source="MONDO:equivalentTo", source="EFO:0007332"}
xref: EFO:0007332 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6797 {source="MONDO:GARD"}
xref: ICD10CM:A83.0 {source="Orphanet:79139", source="DOID:10844", source="Orphanet:79139/e"}
xref: icd11.foundation:961032639 {source="Orphanet:79139", source="MONDO:equivalentTo"}
xref: ICD9:062.0 {source="DOID:10844", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10014596 {source="Orphanet:79139", source="Orphanet:79139/e"}
xref: MEDGEN:4032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004672 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="Orphanet:79139/e", source="EFO:0007332"}
xref: NCIT:C34577 {source="DOID:10844", source="MONDO:equivalentTo"}
xref: NORD:1088 {source="MONDO:NORD"}
xref: Orphanet:79139 {source="MONDO:equivalentTo"}
xref: SCTID:154345006 {source="DOID:10844"}
xref: SCTID:266194002 {source="DOID:10844"}
xref: SCTID:52947006 {source="DOID:10844", source="MONDO:equivalentTo"}
xref: UMLS:C0014057 {source="MEDGEN:4032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005156 {source="EFO:0007332", source="MONDO:Redundant", source="MONDO:indirect"} ! encephalomyelitis
is_a: MONDO:0006009 {source="MONDO:Redundant", source="NCIT:C34577/inferred", source="Orphanet:79139"} ! viral encephalitis
is_a: MONDO:0020067 {source="MESH:D004672/inferred", source="MONDO:Redundant", source="NCIT:C34577/inferred", source="Orphanet:79139"} ! infectious encephalitis
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_feature HP:0001259 ! Coma
relationship: disease_has_feature HP:0001289 ! Confusion
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_infectious_agent NCBITaxon:11072 {source="MONDO:Wikidata"} ! Japanese encephalitis virus
relationship: transmitted_by NCBITaxon:7178 ! Culex tritaeniorhynchus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis" xsd:anyURI {source="GARD:0006797"}

[Term]
id: MONDO:0019210
name: cutaneous neuroendocrine carcinoma
def: "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC))." [Orphanet:79140]
subset: gard_rare {source="GARD:9266", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1947", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79140"}
subset: orphanet_rare {source="Orphanet:79140"}
subset: rare
synonym: "carcinoma of Merkel cell" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, Merkel cell" RELATED [GARD:0009266]
synonym: "cutaneous APUDoma" EXACT [NCIT:C9231]
synonym: "cutaneous neuroendocrine carcinoma" EXACT [NCIT:C9231]
synonym: "MCC" EXACT ABBREVIATION [ONCOTREE:MCC, Orphanet:79140]
synonym: "Merkel cell cancer" EXACT [NCIT:C9231]
synonym: "Merkel Cell Carcinoma" EXACT [NORD:1947]
synonym: "Merkel cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C9231, Orphanet:79140]
synonym: "Merkel cell tumor" EXACT [NCIT:C9231]
synonym: "Merkel cell tumour" EXACT OMO:0003005 []
synonym: "Merkle tumors" RELATED [GARD:0009266]
synonym: "Merkle tumours" RELATED OMO:0003005 []
synonym: "neuroendocrine carcinoma of skin" EXACT [NCIT:C9231]
synonym: "neuroendocrine carcinoma of the skin" EXACT [NCIT:C9231]
synonym: "neuroendocrine skin carcinoma" EXACT [NCIT:C9231]
synonym: "trabecular cancer" EXACT [NCIT:C9231]
synonym: "trabecular skin carcinoma" EXACT [NCIT:C9231]
xref: GARD:9266 {source="MONDO:GARD"}
xref: ICD10CM:C44.3 {source="Orphanet:79140", source="Orphanet:79140/btnt"}
xref: ICD10CM:C44.6 {source="Orphanet:79140", source="Orphanet:79140/btnt"}
xref: ICD10CM:C44.7 {source="Orphanet:79140", source="Orphanet:79140/btnt"}
xref: icd11.foundation:680322043 {source="MONDO:equivalentTo", source="Orphanet:79140"}
xref: ICD9:209.36 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8247/3 {source="NCIT:C9231"}
xref: MEDGEN:2843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015266 {source="MONDO:equivalentTo"}
xref: NCIT:C9231 {source="MONDO:equivalentTo"}
xref: NORD:1947 {source="MONDO:NORD"}
xref: ONCOTREE:MCC {source="MONDO:equivalentTo"}
xref: Orphanet:79140 {source="MONDO:equivalentTo"}
xref: SCTID:253001006 {source="MONDO:equivalentTo"}
xref: UMLS:C0007129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2843"}
is_a: MONDO:0002120 {source="MESH:D015266", source="MONDO:Redundant", source="NCIT:C9231"} ! neuroendocrine carcinoma
is_a: MONDO:0002656 {source="MONDO:Redundant", source="NCIT:C9231"} ! skin carcinoma
is_a: MONDO:0003363 {source="MONDO:Entailed", source="NCIT:C9231"} ! malignant dermis tumor
is_a: MONDO:0017341 {source="Orphanet:79140"} ! virus associated tumor
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location CL:0000242 ! Merkel cell
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79140", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0019211
name: isolated congenital anonychia
def: "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." [Orphanet:79143]
subset: gard_rare {source="GARD:10048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79143"}
subset: orphanet_rare {source="Orphanet:79143"}
subset: rare
synonym: "autosomal recessive nonsyndromic congenital nail disorder-4" RELATED [GARD:0012930]
synonym: "congenital anonychia" RELATED [GARD:0012930]
synonym: "isolated anonychia" EXACT [Orphanet:79143]
synonym: "nonsyndromic congenital nail disorder, 4" RELATED [GARD:0012930]
xref: GARD:10048 {source="MONDO:GARD"}
xref: ICD10CM:Q84.3 {source="Orphanet:79143/e", source="Orphanet:79143/specific", source="Orphanet:79143"}
xref: Orphanet:79143 {source="MONDO:equivalentTo"}
is_a: MONDO:0019284 {source="Orphanet:79143"} ! inherited isolated nail anomaly

[Term]
id: MONDO:0019212
name: disseminated superficial actinic porokeratosis
def: "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." [Orphanet:79152]
subset: gard_rare {source="GARD:10983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79152"}
subset: orphanet_rare {source="Orphanet:79152"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:10983 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:79152", source="Orphanet:79152/attributed", source="Orphanet:79152/ntbt"}
xref: ICD9:692.75 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:120561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79152 {source="MONDO:equivalentTo"}
xref: SCTID:41495000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265970 {source="MONDO:equivalentTo", source="MEDGEN:120561", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:79152", source="Orphanet:79152/inferred"} ! disease
is_a: MONDO:0006602 {source="Orphanet:79152"} ! porokeratosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
relationship: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0019213
name: obsolete cerebral organic aciduria
def: "OBSOLETE. A inherited organic acidemia that involves the brain." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:79158"}
synonym: "brain inherited organic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "inherited organic acidemia of brain" EXACT [MONDO:design_pattern]
xref: GARD:18945 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1644149132 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79158"}
xref: Orphanet:79158 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019214
name: inborn carbohydrate metabolic disorder
def: "An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18946", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79161"}
subset: rare
synonym: "carbohydrate metabolic disorder" RELATED [DOID:2978]
synonym: "carbohydrate metabolism disorder" EXACT [NCIT:C97089]
synonym: "disorder of carbohydrate metabolism" RELATED [Orphanet:79161]
synonym: "disorder of carbohydrate transport and metabolism" EXACT [DOID:2978]
synonym: "inborn carbohydrate metabolic process disorder" EXACT []
synonym: "inborn carbohydrate metabolism disorder" EXACT [DOID:2978]
synonym: "inborn error of carbohydrate metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn errors of carbohydrate metabolism" EXACT [DOID:2978]
synonym: "rare inborn error of carbohydrate metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:2978 {source="MONDO:equivalentTo"}
xref: GARD:18946 {source="MONDO:GARD"}
xref: ICD9:271.8 {source="DOID:2978"}
xref: MedDRA:10061023 {source="Orphanet:79161", source="Orphanet:79161/e"}
xref: MEDGEN:2825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002239 {source="MONDO:equivalentTo", source="DOID:2978"}
xref: NANDO:2100164 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C97089 {source="MONDO:equivalentTo"}
xref: Orphanet:79161 {source="MONDO:equivalentTo"}
xref: UMLS:C0007001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2825"}
is_a: MONDO:0019052 {source="DOID:2978", source="MESH:D002239", source="MONDO:Redundant", source="Orphanet:79161"} ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate metabolic process

[Term]
id: MONDO:0019215
name: classic organic aciduria
subset: disease_grouping
subset: gard_rare {source="GARD:18947", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79163"}
subset: rare
xref: GARD:18947 {source="MONDO:GARD"}
xref: icd11.foundation:1879509617 {source="MONDO:equivalentTo", source="Orphanet:79163", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79163 {source="MONDO:equivalentTo"}
xref: UMLS:C5681291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842457"}
is_a: MONDO:0000688 {source="Orphanet:79163"} ! inborn organic aciduria

[Term]
id: MONDO:0019216
name: inborn disorder of amino acid transport
subset: disease_grouping
subset: gard_rare {source="GARD:18948", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79166"}
subset: rare
synonym: "disorder of amino acid absorption and transport" RELATED [Orphanet:79166]
synonym: "inborn disorder of amino acid absorption and transport" EXACT []
xref: GARD:18948 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:79166/e", source="Orphanet:79166/specific", source="Orphanet:79166"}
xref: icd11.foundation:1631611896 {source="MONDO:equivalentTo", source="Orphanet:79166", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:270.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:541381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79166 {source="MONDO:equivalentTo"}
xref: SCTID:16784003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541381"}
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:79166", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019217
name: obsolete inborn disorder of urea cycle metabolism and ammonia detoxification
comment: duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1572" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004739

[Term]
id: MONDO:0019218
name: inborn disorder of bile acid synthesis
def: "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." [Orphanet:79168]
subset: disease_grouping
subset: gard_rare {source="GARD:18949", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:854"}
subset: ordo_group_of_disorders {source="Orphanet:79168"}
subset: rare
synonym: "Bile Acid Synthesis Disorders" EXACT [NORD:854]
synonym: "disorder of bile acid synthesis" RELATED [Orphanet:79168]
synonym: "inborn bile acid biosynthetic process disorder" EXACT []
synonym: "inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn errors of bile acid synthesis" RELATED [GTR:AN0923838]
synonym: "rare inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18949 {source="MONDO:GARD"}
xref: GTR:AN0923838
xref: MEDGEN:98324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200506 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:854 {source="MONDO:NORD"}
xref: Orphanet:79168 {source="MONDO:equivalentTo"}
xref: UMLS:C0400973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98324"}
is_a: MONDO:0019256 {source="Orphanet:79168"} ! sterol metabolism disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006699 ! bile acid biosynthetic process

[Term]
id: MONDO:0019219
name: inborn disorder of neurotransmitter metabolism and transport
subset: disease_grouping
subset: gard_rare {source="GARD:18950", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79169"}
subset: rare
synonym: "disorder of neurotransmitter metabolism and transport" RELATED [Orphanet:79169]
xref: GARD:18950 {source="MONDO:GARD"}
xref: MEDGEN:1842206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79169 {source="MONDO:equivalentTo"}
xref: UMLS:C5681289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842206"}
is_a: MONDO:0019250 {source="Orphanet:79169"} ! inborn disorder of biogenic amine metabolism and transport

[Term]
id: MONDO:0019220
name: inborn disorder of cobalamin metabolism and transport
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:18951", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79171"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of cobalamin metabolism and transport" RELATED [Orphanet:79171]
synonym: "inborn disorder of cobalamin metabolism and transport" EXACT CLINGEN_LABEL []
xref: GARD:18951 {source="MONDO:GARD"}
xref: icd11.foundation:936546617 {source="Orphanet:79171", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1826150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79171 {source="MONDO:equivalentTo"}
xref: UMLS:C5681844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826150"}
is_a: MONDO:0017758 {source="Orphanet:79171"} ! disorder of vitamin and non-protein cofactor absorption and transport

[Term]
id: MONDO:0019221
name: obsolete creatine deficiency syndrome
is_obsolete: true
replaced_by: MONDO:0000456

[Term]
id: MONDO:0019222
name: inborn disorder of methionine cycle and sulfur amino acid metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." [MONDO:patterns/inborn_metabolic]
comment: Editor note: check this
subset: disease_grouping
subset: gard_rare {source="GARD:18953", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79173"}
subset: rare
synonym: "cytosolic methyl group transfer or sulfur amino acid metabolism disorder" EXACT [Orphanet:79173]
synonym: "cytosolic methyl group transfer or sulphur amino acid metabolism disorder" EXACT OMO:0003005 []
synonym: "disorder of methionine cycle and sulfur amino acid metabolism" RELATED [Orphanet:79173]
synonym: "disorder of methionine cycle and sulphur amino acid metabolism" RELATED OMO:0003005 []
synonym: "inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of sulphur amino acid metabolic process" EXACT OMO:0003005 []
synonym: "inborn sulfur amino acid metabolic process disorder" EXACT []
synonym: "inborn sulphur amino acid metabolic process disorder" EXACT OMO:0003005 []
synonym: "rare inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of sulphur amino acid metabolic process" EXACT OMO:0003005 []
xref: GARD:18953 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:79173", source="Orphanet:79173/attributed", source="Orphanet:79173/ntbt"}
xref: icd11.foundation:67872354 {source="MONDO:equivalentTo", source="Orphanet:79173", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:270.4 {source="MONDO:i2s"}
xref: MEDGEN:1842381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79173 {source="MONDO:equivalentTo"}
xref: SCTID:28882002 {source="MONDO:equivalentTo"}
xref: UMLS:C5680126 {source="MEDGEN:1842381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019189 {source="Orphanet:79173"} ! inborn disorder of amino acid and other organic acid metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0000096 ! sulfur amino acid metabolic process

[Term]
id: MONDO:0019223
name: disorder of fatty acid and ketone body metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:18954", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79174"}
subset: rare
synonym: "disorder of fatty acid oxidation and ketone body metabolism" RELATED [Orphanet:79174]
synonym: "inborn disorder of fatty acid oxidation and ketone body metabolism" EXACT [Orphanet:79174]
xref: GARD:18954 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:79174", source="Orphanet:79174/attributed", source="Orphanet:79174/ntbt"}
xref: MEDGEN:1842462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79174 {source="MONDO:equivalentTo"}
xref: UMLS:C5681281 {source="MEDGEN:1842462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019243 {source="Orphanet:79174"} ! inborn disorder of energy metabolism

[Term]
id: MONDO:0019224
name: obsolete inborn disorder of gamma-aminobutyric acid metabolism
def: "OBSOLETE. An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." [MONDO:patterns/inborn_metabolic]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of GABA metabolism" EXACT [Orphanet:79175]
synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [Orphanet:79175]
synonym: "inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn gamma-aminobutyric acid metabolic process disorder" EXACT []
synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18955 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E72.8 {source="Orphanet:79175", source="Orphanet:79175/attributed", source="Orphanet:79175/ntbt"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000698

[Term]
id: MONDO:0019225
name: disorder of gluconeogenesis
def: "An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18956", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79177"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gluconeogenesis disorder" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn gluconeogenesis disorder" EXACT []
synonym: "rare inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18956 {source="MONDO:GARD"}
xref: ICD10CM:E74.4 {source="Orphanet:79177", source="Orphanet:79177/attributed", source="Orphanet:79177/ntbt"}
xref: MEDGEN:1843360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79177 {source="MONDO:equivalentTo"}
xref: UMLS:C1398833 {source="MEDGEN:1843360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019214 {source="MONDO:Redundant", source="Orphanet:79177", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006094 ! gluconeogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019226
name: glucose transport disorder
def: "An inherited metabolic disease that is has its basis in the disruption of glucose transport." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18957", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79178"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inborn error of glucose transport" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of glucose transport" RELATED [MONDO:patterns/inborn_metabolic]
xref: GARD:18957 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:79178/attributed", source="Orphanet:79178/ntbt", source="Orphanet:79178"}
xref: MEDGEN:1842427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79178 {source="MONDO:equivalentTo"}
xref: UMLS:C5389835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842427"}
is_a: MONDO:0017706 {source="Orphanet:79178"} ! disorder of carbohydrate transmembrane transport and absorption
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:1904659 ! glucose transmembrane transport
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0019227
name: obsolete inborn disorder of glycerol metabolism
def: "OBSOLETE. An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/inborn_metabolic]
subset: ordo_group_of_disorders {source="Orphanet:79179"}
synonym: "disorder of glycerol metabolism" RELATED [Orphanet:79179]
synonym: "inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn glycerol metabolic process disorder" EXACT []
synonym: "rare inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18958 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:61192754 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79179"}
xref: Orphanet:79179 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019228
name: inborn disorder of histidine metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18959", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79181"}
subset: rare
synonym: "disorder of histidine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of histidine metabolism" EXACT [Orphanet:79181]
synonym: "disturbance of histidine metabolism" EXACT [DOID:9265]
synonym: "histidine metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "histidine metabolism disease" EXACT [DOID:9265, MONDO:0004738]
synonym: "inborn disorder of histidine metabolism" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of histidine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of histidine metabolism" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn histidine metabolic process disorder" EXACT []
synonym: "rare inborn error of histidine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:9265 {source="MONDO:equivalentTo"}
xref: GARD:18959 {source="MONDO:GARD"}
xref: ICD10CM:E70.4 {source="DOID:9265"}
xref: ICD10CM:E70.40 {source="MONDO:equivalentTo", source="DOID:9265"}
xref: ICD10CM:E70.8 {source="Orphanet:79181/inclusion", source="Orphanet:79181/ntbt", source="Orphanet:79181"}
xref: icd11.foundation:543162269 {source="Orphanet:79181", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:270.5 {source="DOID:9265"}
xref: MEDGEN:541342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79181 {source="MONDO:equivalentTo"}
xref: SCTID:190715008 {source="DOID:9265"}
xref: SCTID:44176004 {source="MONDO:equivalentTo", source="DOID:9265"}
xref: UMLS:C0268512 {source="MEDGEN:541342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004736 {source="DOID:9265", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006547 ! L-histidine metabolic process
relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:79181", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5364" xsd:anyURI

[Term]
id: MONDO:0019229
name: inborn disorder of ketolysis
def: "An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18960", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79183"}
subset: rare
synonym: "disorder of ketolysis" BROAD [Orphanet:79183]
synonym: "inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn ketone body catabolic process disorder" EXACT []
synonym: "rare inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18960 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:79183", source="Orphanet:79183/attributed", source="Orphanet:79183/ntbt"}
xref: icd11.foundation:1454722246 {source="MONDO:equivalentTo", source="Orphanet:79183", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79183 {source="MONDO:equivalentTo"}
xref: UMLS:C5681845 {source="MEDGEN:1842927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019223 {source="Orphanet:79183"} ! disorder of fatty acid and ketone body metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0046952 ! ketone body catabolic process

[Term]
id: MONDO:0019230
name: inborn disorder of ornithine or proline metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:18961", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79185"}
subset: rare
synonym: "disorder of ornithine or proline metabolism" RELATED [Orphanet:79185]
xref: GARD:18961 {source="MONDO:GARD"}
xref: MEDGEN:1842760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79185 {source="MONDO:equivalentTo"}
xref: UMLS:C5681278 {source="MEDGEN:1842760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019189 {source="Orphanet:79185"} ! inborn disorder of amino acid and other organic acid metabolism

[Term]
id: MONDO:0019231
name: inborn disorder of pentose phosphate metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:18962", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79186"}
subset: rare
synonym: "disorder of pentose phosphate metabolism" RELATED [Orphanet:79186]
xref: GARD:18962 {source="MONDO:GARD"}
xref: ICD10CM:E74.8 {source="Orphanet:79186", source="Orphanet:79186/attributed", source="Orphanet:79186/ntbt"}
xref: icd11.foundation:2067324607 {source="MONDO:equivalentTo", source="Orphanet:79186", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79186 {source="MONDO:equivalentTo"}
xref: UMLS:C5681279 {source="MEDGEN:1842861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018605 {source="Orphanet:79186"} ! disorders of pentose/polyol metabolism
is_a: MONDO:0019214 {source="PMID:33340416"} ! inborn carbohydrate metabolic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019232
name: inborn disorder of peptide metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:18963", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79187"}
subset: rare
synonym: "disorder of peptide metabolism" RELATED [Orphanet:79187]
xref: GARD:18963 {source="MONDO:GARD"}
xref: icd11.foundation:1488430462 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79187"}
xref: MEDGEN:1843166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79187 {source="MONDO:equivalentTo"}
xref: UMLS:C4736193 {source="MEDGEN:1843166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism
relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:79187", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019233
name: disorder of peroxisomal beta oxidation
subset: disease_grouping
subset: gard_rare {source="GARD:12470", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79188"}
subset: rare
synonym: "disorder of peroxisomal beta oxidation" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
xref: GARD:12470 {source="MONDO:GARD"}
xref: ICD10CM:E71.3 {source="Orphanet:79188", source="Orphanet:79188/attributed", source="Orphanet:79188/ntbt"}
xref: MEDGEN:1843097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200764 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:79188 {source="MONDO:equivalentTo"}
xref: UMLS:C5681280 {source="MEDGEN:1843097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder" xsd:anyURI {source="GARD:0012470"}

[Term]
id: MONDO:0019234
name: peroxisome biogenesis disorder
def: "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." [Orphanet:79189]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:11890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79189"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebrohepatorenal syndrome" NARROW [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165]
synonym: "disorders of peroxisome biogenesis" RELATED [GARD:0009473]
synonym: "PBD, ZSS" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165]
synonym: "PBD-Zellweger spectrum disorder" RELATED [GARD:0011890]
synonym: "PBD-ZSD" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165]
synonym: "PBD-ZSS" RELATED [GARD:0011890]
synonym: "peroxisomal biogenesis disorders" EXACT [GARD:0009473]
synonym: "peroxisomal biogenesis disorders, Zellweger syndrome spectrum" EXACT [GARD:0011890]
synonym: "peroxisome biogenesis disorder" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "peroxisome biogenesis disorder spectrum" EXACT [Orphanet:79189]
synonym: "peroxisome biogenesis disorder-Zellweger syndrome spectrum" EXACT [GARD:0011890]
synonym: "peroxisome biogenesis disorders, Zellweger syndrome spectrum" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165]
synonym: "Zellweger spectrum" RELATED [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165]
synonym: "Zellweger spectrum disorder" RELATED [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165]
synonym: "Zellweger spectrum disorders" RELATED [GARD:0011890]
synonym: "Zellweger syndrome spectrum" RELATED [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165]
synonym: "ZSD" RELATED ABBREVIATION [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165]
xref: DOID:0080377 {source="MONDO:equivalentTo"}
xref: GARD:11890 {source="MONDO:GARD"}
xref: icd11.foundation:1919322367 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79189"}
xref: MEDGEN:330407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531857 {source="MONDO:equivalentTo"}
xref: MESH:C536664 {source="Orphanet:79189/e", source="MONDO:equivalentTo", source="Orphanet:79189"}
xref: NANDO:1200759 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200575 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C146639 {source="MONDO:equivalentTo", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"}
xref: NCIT:C155747 {source="MONDO:equivalentTo"}
xref: OMIMPS:214100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:79189 {source="MONDO:equivalentTo"}
xref: SCTID:742876007 {source="MONDO:equivalentTo"}
xref: UMLS:C1832200 {source="MEDGEN:330407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C85239"} ! syndromic disease
is_a: MONDO:0005066 {source="Orphanet:79189"} ! metabolic disease
is_a: MONDO:0019046 {source="NCIT:C146639", source="Orphanet:79189", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy
is_a: MONDO:0019053 {source="Orphanet:79189"} ! peroxisomal disease
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy
relationship: has_characteristic HP:0000007 {source="Orphanet:912"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:214100"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#peroxisomal" xsd:anyURI

[Term]
id: MONDO:0019235
name: inborn disorder of phenylalanine and tyrosine metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:18964", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79190"}
subset: rare
synonym: "disorder of phenylalanin or tyrosine metabolism" RELATED [Orphanet:79190]
synonym: "inborn disorder of phenylalanin or tyrosine metabolism" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18964 {source="MONDO:GARD"}
xref: MEDGEN:1842953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79190 {source="MONDO:equivalentTo"}
xref: UMLS:C5681284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842953"}
is_a: MONDO:0004736 {source="MONDO:0004736"} ! inborn disorder of amino acid metabolism
relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:79190", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019236
name: inborn disorder of purine metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18965", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79191"}
subset: rare
synonym: "disorder of purine metabolism" RELATED [Orphanet:79191]
synonym: "inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn purine nucleobase metabolic process disorder" EXACT []
synonym: "rare inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18965 {source="MONDO:GARD"}
xref: icd11.foundation:1958565793 {source="Orphanet:79191", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10061476 {source="Orphanet:79191", source="Orphanet:79191/e"}
xref: Orphanet:79191 {source="MONDO:equivalentTo"}
is_a: MONDO:0019254 {source="Orphanet:79191"} ! inborn disorder of purine or pyrimidine metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006144 ! purine nucleobase metabolic process

[Term]
id: MONDO:0019237
name: inborn disorder of pyridoxine metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18966", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79192"}
subset: rare
synonym: "disorder of pyridoxine metabolism" RELATED [Orphanet:79192]
synonym: "inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn pyridoxine metabolic process disorder" EXACT []
synonym: "rare inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18966 {source="MONDO:GARD"}
xref: ICD10CM:G40.8 {source="Orphanet:79192/attributed", source="Orphanet:79192/ntbt", source="Orphanet:79192"}
xref: icd11.foundation:1860570911 {source="Orphanet:79192", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79192 {source="MONDO:equivalentTo"}
xref: UMLS:C5681285 {source="MONDO:equivalentTo", source="MEDGEN:1842882", source="MONDO:MEDGEN"}
is_a: MONDO:0019250 {source="Orphanet:79192"} ! inborn disorder of biogenic amine metabolism and transport
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0008614 ! pyridoxine metabolic process

[Term]
id: MONDO:0019238
name: inborn disorder of pyrimidine metabolism
def: "ANPM" [Orphanet:79193]
subset: disease_grouping
subset: gard_rare {source="GARD:18967", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79193"}
subset: rare
synonym: "disorder of pyrimidine metabolism" RELATED [Orphanet:79193]
synonym: "inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn pyrimidine nucleobase metabolic process disorder" EXACT []
synonym: "pyrimidine metabolic disorder" EXACT [MONDO:0000475]
synonym: "rare inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:0050832 {source="MONDO:equivalentTo"}
xref: GARD:18967 {source="MONDO:GARD"}
xref: icd11.foundation:771608363 {source="Orphanet:79193", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10070969 {source="Orphanet:79193", source="Orphanet:79193/e"}
xref: MEDGEN:541208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79193 {source="MONDO:equivalentTo"}
xref: UMLS:C0268127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541208"}
is_a: MONDO:0019254 {source="Orphanet:79193"} ! inborn disorder of purine or pyrimidine metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006206 ! pyrimidine nucleobase metabolic process

[Term]
id: MONDO:0019239
name: inborn disorder of serine family metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18968", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79194"}
subset: rare
synonym: "disorder of serine or glycine metabolism" RELATED [Orphanet:79194]
synonym: "inborn disorder of serine or glycine metabolism" EXACT [Orphanet:79194]
synonym: "inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn serine family amino acid metabolic process disorder" EXACT []
synonym: "rare inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18968 {source="MONDO:GARD"}
xref: MEDGEN:1842840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79194 {source="MONDO:equivalentTo"}
xref: UMLS:C5681286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842840"}
is_a: MONDO:0019189 {source="Orphanet:79194"} ! inborn disorder of amino acid and other organic acid metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0009069 ! serine family amino acid metabolic process

[Term]
id: MONDO:0019240
name: sterol biosynthesis disorder
def: "An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18969", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79195"}
subset: rare
synonym: "inborn error of sterol biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sterol biosynthetic process disorder" EXACT []
synonym: "rare inborn error of sterol biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18969 {source="MONDO:GARD"}
xref: MEDGEN:1843040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79195 {source="MONDO:equivalentTo"}
xref: UMLS:C5681287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843040"}
is_a: MONDO:0015327 {source="Orphanet:79195"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019256 {source="MONDO:Redundant", source="Orphanet:79195"} ! sterol metabolism disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0016126 ! sterol biosynthetic process

[Term]
id: MONDO:0019241
name: inborn disorder of the gamma-glutamyl cycle
comment: Editor note: request from GO
subset: disease_grouping
subset: gard_rare {source="GARD:18970", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79196"}
subset: rare
synonym: "disorder of gamma-glutamyl cycle" RELATED []
synonym: "disorder of the gamma-glutamyl cycle" RELATED [Orphanet:79196]
xref: GARD:18970 {source="MONDO:GARD"}
xref: ICD10CM:E72.8 {source="Orphanet:79196/inclusion", source="Orphanet:79196", source="Orphanet:79196/ntbt"}
xref: icd11.foundation:34853044 {source="MONDO:equivalentTo", source="Orphanet:79196", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:541345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79196 {source="MONDO:equivalentTo"}
xref: SCTID:9128006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268517 {source="MEDGEN:541345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019189 {source="Orphanet:79196"} ! inborn disorder of amino acid and other organic acid metabolism

[Term]
id: MONDO:0019242
name: inborn disorder of branched-chain amino acid metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." [MONDO:patterns/inborn_metabolic]
comment: Editor note: consider parent for non-inborn form
subset: disease_grouping
subset: gard_rare {source="GARD:18971", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79197"}
subset: rare
synonym: "branched chain amino acid metabolism disorder" RELATED []
synonym: "disorder of branched chain amino acid metabolism" RELATED []
synonym: "disorder of branched-chain amino acid metabolism" EXACT [Orphanet:79197]
synonym: "inborn branched-chain amino acid metabolic process disorder" EXACT []
synonym: "inborn disorder of branched-chain amino acid metabolism" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of branched-chain amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18971 {source="MONDO:GARD"}
xref: ICD10CM:E71.0 {source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"}
xref: ICD10CM:E71.1 {source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"}
xref: ICD10CM:E71.2 {source="Orphanet:79197/specific", source="Orphanet:79197", source="Orphanet:79197/btnt"}
xref: icd11.foundation:5456505 {source="MONDO:equivalentTo", source="Orphanet:79197", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:87452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79197 {source="MONDO:equivalentTo"}
xref: SCTID:116020001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87452"}
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0009081 ! branched-chain amino acid metabolic process
relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:79197", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019243
name: inborn disorder of energy metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18972", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79200"}
subset: rare
synonym: "disorder of energy metabolism" RELATED [Orphanet:79200]
synonym: "inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn generation of precursor metabolites and energy disorder" EXACT []
synonym: "rare inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18972 {source="MONDO:GARD"}
xref: MEDGEN:1842265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79200 {source="MONDO:equivalentTo"}
xref: UMLS:C5681282 {source="MEDGEN:1842265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="MONDO:Redundant", source="Orphanet:79200"} ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006091 ! generation of precursor metabolites and energy

[Term]
id: MONDO:0019244
name: obsolete glycogen storage disease
is_obsolete: true
replaced_by: MONDO:0002412

[Term]
id: MONDO:0019245
name: lysosomal lipid storage disorder
def: "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes." [PMID:21502308, Wikipedia:Lipid_storage_disorder]
subset: disease_grouping
subset: gard_rare {source="GARD:12511", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79204"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn lipid storage disorder" EXACT [DOID:9455]
synonym: "lipid storage disease" EXACT [DOID:9455]
synonym: "lipidoses" RELATED []
synonym: "lipidosis" RELATED []
synonym: "lipoid storage diseas" EXACT [DOID:9455]
synonym: "lipoid storage disease" EXACT []
synonym: "lipoid storage disorder" EXACT []
synonym: "lipoidoses" RELATED []
synonym: "lipoidosis" RELATED [DOID:9455]
synonym: "rare inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic]
xref: DOID:9455 {source="MONDO:equivalentTo"}
xref: GARD:12511 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="Orphanet:79204", source="Orphanet:79204/attributed", source="Orphanet:79204/ntbt"}
xref: ICD10CM:E75.6 {source="Orphanet:79204", source="Orphanet:79204/attributed", source="Orphanet:79204/ntbt", source="DOID:9455"}
xref: ICD9:272.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9455"}
xref: ICD9:272.8 {source="DOID:9455"}
xref: MEDGEN:9780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008064 {source="MONDO:equivalentTo", source="DOID:9455"}
xref: Orphanet:79204 {source="MONDO:equivalentTo"}
xref: SCTID:10741005 {source="MONDO:equivalentTo", source="DOID:9455"}
xref: SCTID:11455007 {source="DOID:9455"}
xref: SCTID:154744007 {source="DOID:9455"}
xref: SCTID:190792005 {source="DOID:9455"}
xref: SCTID:190797004 {source="DOID:9455"}
xref: SCTID:190798009 {source="DOID:9455"}
xref: SCTID:190805007 {source="DOID:9455"}
xref: SCTID:267437005 {source="DOID:9455"}
xref: SCTID:267438000 {source="DOID:9455"}
xref: UMLS:C0023794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9780"}
is_a: MONDO:0002525 {source="MONDO:Redundant"} ! inherited lipid metabolism disorder
is_a: MONDO:0002561 {source="DOID:9455", source="Orphanet:79204/inferred"} ! lysosomal storage disease
intersection_of: MONDO:0019052 {source="PMID:21502308"} ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0019915 {source="PMID:21502308"} ! lipid storage
relationship: disease_disrupts GO:0016042 {source="PMID:21502308"} ! lipid catabolic process
relationship: excluded_subClassOf MONDO:0019255 {source="Orphanet:79204", source="https://orcid.org/0000-0001-5208-3432"} ! sphingolipidosis

[Term]
id: MONDO:0019246
name: inborn disorder of lysosomal amino acid transport
subset: disease_grouping
subset: gard_rare {source="GARD:18974", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79207"}
subset: rare
synonym: "disorder of lysosomal amino acid transport" RELATED [Orphanet:79207]
xref: GARD:18974 {source="MONDO:GARD"}
xref: MEDGEN:1842266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79207 {source="MONDO:equivalentTo"}
xref: UMLS:C5681276 {source="MONDO:equivalentTo", source="MEDGEN:1842266", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="Orphanet:79207"} ! lysosomal storage disease
relationship: disease_has_basis_in_disruption_of GO:0007041 ! lysosomal transport

[Term]
id: MONDO:0019247
name: obsolete combined hyperlipidemia (including acquired and inherited)
is_obsolete: true
replaced_by: MONDO:0001807

[Term]
id: MONDO:0019248
name: mucolipidosis
def: "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations." [NCIT:C61267]
subset: disease_grouping
subset: gard_rare {source="GARD:18975", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79212"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080488 {source="MONDO:equivalentTo"}
xref: GARD:18975 {source="MONDO:GARD"}
xref: icd11.foundation:714623911 {source="MONDO:equivalentTo", source="Orphanet:79212"}
xref: MEDGEN:7731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009081 {source="Orphanet:79212/e", source="MONDO:equivalentTo", source="Orphanet:79212"}
xref: NCIT:C61267 {source="MONDO:equivalentTo"}
xref: Orphanet:79212 {source="MONDO:equivalentTo"}
xref: SCTID:70528007 {source="MONDO:equivalentTo"}
xref: UMLS:C0026697 {source="MEDGEN:7731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="MONDO:Redundant", source="NCIT:C61267", source="Orphanet:79212/inferred"} ! lysosomal storage disease
is_a: MONDO:0015327 {source="Orphanet:79212"} ! developmental anomaly of metabolic origin
is_a: MONDO:0017731 {source="Orphanet:79212"} ! glycoproteinosis

[Term]
id: MONDO:0019249
name: mucopolysaccharidosis
def: "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." [NCIT:C61259]
subset: disease_grouping
subset: gard_rare {source="GARD:7065", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1461"}
subset: ordo_group_of_disorders {source="Orphanet:79213"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MPS" RELATED ABBREVIATION [GARD:0007065]
synonym: "Mucopolysaccharidoses" EXACT [NORD:1461]
synonym: "mucopolysaccharidoses" EXACT [OMIMPS:607014]
synonym: "mucopolysaccharidosis" EXACT [NCIT:C61259]
xref: DOID:12798 {source="MONDO:equivalentTo"}
xref: GARD:7065 {source="MONDO:GARD"}
xref: ICD10CM:E76.0 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"}
xref: ICD10CM:E76.1 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"}
xref: ICD10CM:E76.2 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"}
xref: ICD10CM:E76.3 {source="Orphanet:79213/specific", source="DOID:12798", source="Orphanet:79213/btnt", source="Orphanet:79213"}
xref: icd11.foundation:1596128696 {source="MONDO:equivalentTo", source="Orphanet:79213"}
xref: ICD9:277.5 {source="DOID:12798", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10028093 {source="Orphanet:79213/e", source="Orphanet:79213"}
xref: MEDGEN:7733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009083 {source="DOID:12798", source="Orphanet:79213/e", source="MONDO:equivalentTo", source="Orphanet:79213"}
xref: NCIT:C61259 {source="DOID:12798", source="MONDO:equivalentTo"}
xref: NORD:1461 {source="MONDO:NORD"}
xref: OMIMPS:607014 {source="MONDO:equivalentTo"}
xref: Orphanet:79213 {source="DOID:12798", source="MONDO:equivalentTo"}
xref: SCTID:11380006 {source="DOID:12798", source="MONDO:equivalentTo"}
xref: SCTID:190936000 {source="DOID:12798"}
xref: SCTID:190942001 {source="DOID:12798"}
xref: SCTID:267452003 {source="DOID:12798"}
xref: UMLS:C0026703 {source="MEDGEN:7733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002561 {source="DOID:12798", source="MESH:D009083", source="NCIT:C61259", source="Orphanet:79213"} ! lysosomal storage disease
is_a: MONDO:0015327 {source="Orphanet:79213"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019214 {source="MESH:D009083", source="NCIT:C61259"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0100365 {source="https://orcid.org/0000-0001-5208-3432"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder
relationship: disease_has_basis_in_disruption_of GO:1903510 ! mucopolysaccharide metabolic process
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607014"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis" xsd:anyURI {source="GARD:0007065"}

[Term]
id: MONDO:0019250
name: inborn disorder of biogenic amine metabolism and transport
subset: disease_grouping
subset: gard_rare {source="GARD:18976", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79214"}
subset: rare
synonym: "disorder of biogenic amine metabolism and transport" RELATED [Orphanet:79214]
xref: GARD:18976 {source="MONDO:GARD"}
xref: MEDGEN:1842301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79214 {source="MONDO:equivalentTo"}
xref: UMLS:C5681274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842301"}
is_a: MONDO:0019052 {source="Orphanet:79214"} ! inborn errors of metabolism

[Term]
id: MONDO:0019251
name: oligosaccharidosis
subset: disease_grouping
subset: gard_rare {source="GARD:18977", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79215"}
subset: rare
xref: GARD:18977 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:79215", source="Orphanet:79215/attributed", source="Orphanet:79215/ntbt"}
xref: icd11.foundation:1805681916 {source="Orphanet:79215", source="MONDO:equivalentTo"}
xref: MEDGEN:1787409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79215 {source="MONDO:equivalentTo"}
xref: UMLS:C5547641 {source="MEDGEN:1787409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015327 {source="Orphanet:79215"} ! developmental anomaly of metabolic origin
is_a: MONDO:0017731 {source="Orphanet:79215"} ! glycoproteinosis
relationship: disease_has_basis_in_disruption_of GO:0009311 ! oligosaccharide metabolic process

[Term]
id: MONDO:0019252
name: obsolete other metabolic disease with skin involvement
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79217"}
xref: GARD:18978 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79217 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019253
name: metabolic disease involving other neurotransmitter deficiency
subset: disease_grouping
subset: gard_rare {source="GARD:18979", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79219"}
subset: rare
xref: GARD:18979 {source="MONDO:GARD"}
xref: MEDGEN:1843271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79219 {source="MONDO:equivalentTo"}
xref: UMLS:C5681275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843271"}
is_a: MONDO:0019250 {source="Orphanet:79219"} ! inborn disorder of biogenic amine metabolism and transport

[Term]
id: MONDO:0019254
name: inborn disorder of purine or pyrimidine metabolism
subset: disease_grouping
subset: gard_rare {source="GARD:18980", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79224"}
subset: rare
synonym: "disorder of purine or pyrimidine metabolism" RELATED [Orphanet:79224]
synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [DOID:653]
synonym: "inborn purine-pyrimidine metabolic disorder" EXACT [MONDO:0003914]
synonym: "purine-pyrimidine metabolic disorder" RELATED [DOID:653]
xref: DOID:653 {source="MONDO:equivalentTo"}
xref: GARD:18980 {source="MONDO:GARD"}
xref: ICD10CM:E79.0 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="Orphanet:79224"}
xref: ICD10CM:E79.1 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="Orphanet:79224"}
xref: ICD10CM:E79.8 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="DOID:653", source="Orphanet:79224"}
xref: ICD10CM:E79.9 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="Orphanet:79224"}
xref: ICD9:277.2 {source="DOID:653"}
xref: MedDRA:10037546 {source="Orphanet:79224/e", source="Orphanet:79224"}
xref: MEDGEN:48263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011686 {source="Orphanet:79224/e", source="MONDO:equivalentTo", source="Orphanet:79224"}
xref: Orphanet:79224 {source="MONDO:equivalentTo"}
xref: SCTID:190917005 {source="DOID:653"}
xref: SCTID:190922005 {source="DOID:653"}
xref: SCTID:191109006 {source="DOID:653"}
xref: SCTID:267450006 {source="DOID:653"}
xref: UMLS:C0034139 {source="MEDGEN:48263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="DOID:653", source="MESH:D011686", source="MONDO:Redundant", source="Orphanet:79224"} ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_disrupts GO:0009117 ! nucleotide metabolic process
relationship: disease_has_basis_in_disruption_of GO:0009117 ! nucleotide metabolic process

[Term]
id: MONDO:0019255
name: sphingolipidosis
def: "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." [NCIT:P378, PMID:21502308]
subset: disease_grouping
subset: gard_rare {source="GARD:7672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79225"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sphingolipidoses" EXACT [DOID:1927]
synonym: "sphingolipidosis, NOS" RELATED EXCLUDE [DOID:1927]
xref: DOID:1927 {source="MONDO:equivalentTo"}
xref: GARD:7672 {source="MONDO:GARD"}
xref: ICD10CM:E75.0 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"}
xref: ICD10CM:E75.1 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"}
xref: ICD10CM:E75.2 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"}
xref: ICD10CM:E75.3 {source="DOID:1927", source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"}
xref: icd11.foundation:1875237176 {source="MONDO:equivalentTo", source="Orphanet:79225"}
xref: MEDGEN:52453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013106 {source="DOID:1927", source="Orphanet:79225/e", source="MONDO:equivalentTo", source="Orphanet:79225"}
xref: NCIT:C117254 {source="DOID:1927", source="MONDO:equivalentTo"}
xref: Orphanet:79225 {source="MONDO:equivalentTo"}
xref: SCTID:238028008 {source="DOID:1927", source="MONDO:equivalentTo"}
xref: SCTID:58459009 {source="DOID:1927"}
xref: UMLS:C0037899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52453"}
is_a: MONDO:0002525 {source="MONDO:Entailed", source="NCIT:C117254"} ! inherited lipid metabolism disorder
is_a: MONDO:0019245 {source="DOID:1927", source="MESH:D013106", source="MONDO:Redundant", source="PMID:21502308"} ! lysosomal lipid storage disorder
intersection_of: MONDO:0019245 ! lysosomal lipid storage disorder
intersection_of: disease_has_basis_in_disruption_of GO:0006665 ! sphingolipid metabolic process
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis" xsd:anyURI {source="GARD:0007672"}

[Term]
id: MONDO:0019256
name: sterol metabolism disorder
def: "An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process." [MONDO:patterns/inborn_metabolic]
subset: disease_grouping
subset: gard_rare {source="GARD:18981", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79226"}
subset: rare
synonym: "inborn error of sterol metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sterol metabolic process disorder" EXACT []
synonym: "rare inborn error of sterol metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: GARD:18981 {source="MONDO:GARD"}
xref: MEDGEN:1842986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79226 {source="MONDO:equivalentTo"}
xref: UMLS:C5681277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842986"}
is_a: MONDO:0002525 {source="MONDO:Redundant", source="Orphanet:79226"} ! inherited lipid metabolism disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0016125 ! sterol metabolic process

[Term]
id: MONDO:0019257
name: hemochromatosis type 2
def: "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." [Orphanet:79230]
subset: gard_rare {source="GARD:10092", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1315"}
subset: ordo_disorder {source="Orphanet:79230"}
subset: orphanet_rare {source="Orphanet:79230"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hemochromatosis juvenile" RELATED [GARD:0010092]
synonym: "HFE2" EXACT ABBREVIATION [DOID:0111034]
synonym: "iron overload disease juvenile" RELATED [GARD:0010092]
synonym: "JHH" EXACT ABBREVIATION [DOID:0111034]
synonym: "Juvenile Hemochromatosis" EXACT [NORD:1315]
synonym: "juvenile hemochromatosis" EXACT [DOID:0111034, Orphanet:79230]
xref: DOID:0111034 {source="MONDO:equivalentTo"}
xref: GARD:10092 {source="MONDO:GARD"}
xref: ICD10CM:E83.1 {source="Orphanet:79230", source="DOID:0111034", source="Orphanet:79230/attributed", source="Orphanet:79230/ntbt"}
xref: MEDGEN:82769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537247 {source="MONDO:equivalentTo", source="Orphanet:79230", source="DOID:0111034", source="Orphanet:79230/e"}
xref: NORD:1315 {source="MONDO:NORD"}
xref: Orphanet:79230 {source="MONDO:equivalentTo", source="DOID:0111034"}
xref: SCTID:50855007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82769"}
is_a: MONDO:0006507 {source="Orphanet:79230"} ! hereditary hemochromatosis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare

[Term]
id: MONDO:0019258
name: mild phenylketonuria
def: "Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." [Orphanet:79253]
subset: gard_rare {source="GARD:10324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79253"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mild PKU" EXACT [Orphanet:79253]
synonym: "mPKU" EXACT [Orphanet:79253]
synonym: "variant phenylketonuria" EXACT [Orphanet:79253]
synonym: "variant PKU" EXACT [Orphanet:79253]
xref: GARD:10324 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:79253/attributed", source="Orphanet:79253/ntbt", source="Orphanet:79253"}
xref: MEDGEN:1842357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79253 {source="MONDO:equivalentTo"}
xref: UMLS:C5680203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842357"}
is_a: MONDO:0009861 {source="Orphanet:79253"} ! phenylketonuria
relationship: has_characteristic HP:0000007 {source="Orphanet:79253"} ! Autosomal recessive inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria" xsd:anyURI {source="GARD:0010324"}

[Term]
id: MONDO:0019259
name: classic phenylketonuria
def: "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." [https://www.nichd.nih.gov/publications/pubs/pku/sub3, Orphanet:79254]
subset: gard_rare {source="GARD:18982", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79254"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic PKU" EXACT [Orphanet:79254]
xref: GARD:18982 {source="MONDO:GARD"}
xref: ICD10CM:E70.0 {source="Orphanet:79254/e", source="Orphanet:79254/specific", source="Orphanet:79254"}
xref: icd11.foundation:2084504393 {source="MONDO:equivalentTo", source="Orphanet:79254", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10034875 {source="Orphanet:79254/e", source="Orphanet:79254"}
xref: MEDGEN:199655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79254 {source="MONDO:equivalentTo"}
xref: UMLS:C0751434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199655"}
is_a: MONDO:0009861 {source="Orphanet:79254"} ! phenylketonuria
relationship: has_characteristic HP:0000007 {source="Orphanet:79254"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1738" xsd:anyURI

[Term]
id: MONDO:0019260
name: adult neuronal ceroid lipofuscinosis
def: "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." [Orphanet:79262]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10973", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1341"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult NCL" EXACT [Orphanet:79262]
synonym: "adult neuronal ceroid lipofuscinosis" EXACT CLINGEN_LABEL []
synonym: "ANCL" EXACT ABBREVIATION [Orphanet:79262]
synonym: "CLN4 disease, adult autosomal dominant" RELATED [GARD:0010973]
synonym: "Kuf's disease" RELATED [GARD:0010973]
synonym: "Kufs disease" EXACT [Orphanet:79262]
synonym: "neuronal ceroid lipofuscinosis 4" RELATED [GARD:0010973]
synonym: "neuronal ceroid lipofuscinosis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:10973 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:79262", source="Orphanet:79262/attributed", source="Orphanet:79262/ntbt"}
xref: MEDGEN:7230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537950 {source="Orphanet:79262", source="Orphanet:79262/e"}
xref: NANDO:1200155 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201244 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1341 {source="MONDO:NORD"}
xref: Orphanet:79262 {source="MONDO:equivalentTo"}
xref: SCTID:62009002 {source="MONDO:equivalentTo"}
xref: UMLS:C0022797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7230"}
is_a: MONDO:0016295 {source="MONDO:Redundant", source="Orphanet:79262"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020143 {source="Orphanet:79262"} ! cerebral lipidosis with dementia
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_characteristic HP:0003581 ! Adult onset
relationship: excluded_subClassOf MONDO:0020074 {source="Orphanet:79262", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis" xsd:anyURI {source="GARD:0010973"}

[Term]
id: MONDO:0019261
name: infantile neuronal ceroid lipofuscinosis
def: "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." [Orphanet:79263]
subset: gard_rare {source="GARD:9447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1689"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Classic Infantile CLN1 Disease" EXACT [NORD:1689]
synonym: "Hagberg-Santavuori disease" EXACT [Orphanet:79263]
synonym: "INCL" EXACT ABBREVIATION [Orphanet:79263]
synonym: "infantile NCL" EXACT [Orphanet:79263]
synonym: "Santavuori disease" EXACT [Orphanet:79263]
synonym: "Santavuori-Haltia disease" EXACT [Orphanet:79263]
xref: GARD:9447 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:79263", source="Orphanet:79263/attributed", source="Orphanet:79263/ntbt"}
xref: MEDGEN:75666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537948 {source="Orphanet:79263", source="Orphanet:79263/e"}
xref: NANDO:1200152 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201241 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1689 {source="MONDO:NORD"}
xref: Orphanet:79263 {source="MONDO:equivalentTo"}
xref: SCTID:58258004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268281 {source="MEDGEN:75666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016295 {source="Orphanet:79263"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020143 {source="Orphanet:79263"} ! cerebral lipidosis with dementia
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_characteristic HP:0003593 ! Infantile onset
relationship: excluded_subClassOf MONDO:0020074 {source="Orphanet:79263", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy
relationship: has_characteristic HP:0003593 {source="Orphanet:79263"} ! Infantile onset

[Term]
id: MONDO:0019262
name: juvenile neuronal ceroid lipofuscinosis
def: "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." [Orphanet:79264]
comment: Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs
subset: gard_rare {source="GARD:4938", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "batten disease" EXACT [MONDO:0000439, Orphanet:79264]
synonym: "JNCL" EXACT ABBREVIATION [Orphanet:79264]
synonym: "juvenile NCL" EXACT [Orphanet:79264]
synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [DOID:0050756]
synonym: "Spielmeyer-Vogt disease" EXACT [Orphanet:79264]
xref: DOID:0050756 {source="MONDO:equivalentObsolete"}
xref: GARD:4938 {source="MONDO:GARD"}
xref: ICD10CM:E75.4 {source="Orphanet:79264/attributed", source="Orphanet:79264/ntbt", source="Orphanet:79264"}
xref: MedDRA:10052073 {source="Orphanet:79264/e", source="Orphanet:79264"}
xref: NANDO:1200154 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201243 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:79264 {source="MONDO:equivalentTo"}
xref: SCTID:61663001 {source="MONDO:equivalentTo"}
is_a: MONDO:0002561 {source="Orphanet:79264/inferred", source="PMID:21723623"} ! lysosomal storage disease
is_a: MONDO:0016295 {source="DOID:0050756", source="Orphanet:79264"} ! neuronal ceroid lipofuscinosis
is_a: MONDO:0020143 {source="Orphanet:79264"} ! cerebral lipidosis with dementia
intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis
intersection_of: has_characteristic HP:0003621 ! Juvenile onset
relationship: excluded_subClassOf MONDO:0020074 {source="Orphanet:79264", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy
relationship: has_characteristic HP:0003621 ! Juvenile onset

[Term]
id: MONDO:0019263
name: autosomal erythropoietic protoporphyria
def: "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." [Orphanet:79278]
subset: gard_rare {source="GARD:4527", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79278"}
subset: orphanet_rare {source="Orphanet:79278"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EPP" EXACT ABBREVIATION [Orphanet:79278]
xref: GARD:4527 {source="MONDO:GARD"}
xref: ICD10CM:E80.0 {source="Orphanet:79278/ntbt", source="Orphanet:79278/inclusion", source="Orphanet:79278"}
xref: MedDRA:10015289 {source="Orphanet:79278/e", source="Orphanet:79278"}
xref: MESH:D046351 {source="Orphanet:79278/e", source="Orphanet:79278"}
xref: NANDO:1200815 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:79278 {source="MONDO:equivalentTo"}
is_a: MONDO:0001676 {source="https://orcid.org/0000-0002-6601-2165"} ! erythropoietic protoporphyria

[Term]
id: MONDO:0019264
name: alpha-N-acetylgalactosaminidase deficiency type 3
def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." [Orphanet:79281]
subset: gard_rare {source="GARD:3903", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79281"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NAGA deficiency type 3" EXACT [Orphanet:79281]
synonym: "Schindler disease type 3" EXACT [Orphanet:79281]
xref: DOID:0112320 {source="MONDO:equivalentTo"}
xref: GARD:3903 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:79281/attributed", source="Orphanet:79281/ntbt", source="Orphanet:79281"}
xref: MEDGEN:1772900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200137 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:79281 {source="MONDO:equivalentTo"}
xref: UMLS:C5437471 {source="MEDGEN:1772900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017779 {source="Orphanet:79281"} ! alpha-N-acetylgalactosaminidase deficiency

[Term]
id: MONDO:0019265
name: diazoxide-resistant focal hyperinsulinism
def: "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." [Orphanet:79298]
subset: disease_grouping
subset: gard_rare {source="GARD:18983", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79298"}
subset: rare
synonym: "hyperinsulinemic hypoglycemia, diazoxide-resistant focal form" EXACT [Orphanet:79298]
xref: GARD:18983 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:79298", source="Orphanet:79298/attributed", source="Orphanet:79298/ntbt"}
xref: MEDGEN:1843436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79298 {source="MONDO:equivalentTo"}
xref: UMLS:C5680204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843436"}
is_a: MONDO:0017186 {source="Orphanet:79298"} ! diazoxide-resistant hyperinsulinism

[Term]
id: MONDO:0019266
name: SAPHO syndrome
def: "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." [Orphanet:793]
subset: gard_rare {source="GARD:7606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:793"}
subset: orphanet_rare {source="Orphanet:793"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired hyperostosis syndrome" RELATED [GARD:0007606]
synonym: "PPHS" EXACT ABBREVIATION [NCIT:C119049]
synonym: "Pustulo-psoriatic hyperostotic Spondyloarthritis" EXACT [NCIT:C119049]
synonym: "synovitis acne pustulosis hyperostosis osteitis" RELATED [GARD:0007606]
synonym: "synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis" RELATED [GARD:0007606]
synonym: "synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT [DOID:13677]
synonym: "synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome" EXACT [NCIT:C119049]
synonym: "synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" EXACT [Orphanet:793]
xref: DOID:13677 {source="EFO:1001164", source="MONDO:equivalentTo"}
xref: EFO:1001164 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7606 {source="MONDO:GARD"}
xref: ICD10CM:M86.3 {source="Orphanet:793/ntbt", source="Orphanet:793"}
xref: icd11.foundation:1901494067 {source="MONDO:equivalentTo", source="Orphanet:793"}
xref: ICD9:706.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10051316 {source="Orphanet:793/e", source="EFO:1001164", source="Orphanet:793"}
xref: MEDGEN:120490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020083 {source="EFO:1001164", source="MONDO:equivalentTo", source="DOID:13677"}
xref: NCIT:C119049 {source="EFO:1001164", source="MONDO:equivalentTo", source="DOID:13677"}
xref: NCIT:C84530 {source="DOID:13677"}
xref: Orphanet:793 {source="MONDO:equivalentTo"}
xref: SCTID:203140009 {source="DOID:13677"}
xref: SCTID:60684003 {source="EFO:1001164", source="MONDO:equivalentTo", source="DOID:13677"}
xref: UMLS:C0263859 {source="MEDGEN:120490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:13677", source="NCIT:C119049"} ! syndromic disease
is_a: MONDO:0019751 ! autoinflammatory syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome" xsd:anyURI {source="GARD:0007606"}

[Term]
id: MONDO:0019267
name: vitamin B12-unresponsive methylmalonic acidemia type mut-
def: "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." [Orphanet:79312]
subset: gard_rare {source="GARD:16714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79312"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "partial deficiency of methylmalonyl-CoA mutase" EXACT [Orphanet:79312]
synonym: "vitamin B12-unresponsive methylmalonic aciduria type mut-" EXACT [Orphanet:79312]
xref: GARD:16714 {source="MONDO:GARD"}
xref: ICD10CM:E71.1 {source="Orphanet:79312/attributed", source="Orphanet:79312/ntbt", source="Orphanet:79312"}
xref: MEDGEN:575192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79312 {source="MONDO:equivalentTo"}
xref: SCTID:237946002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575192"}
is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria
is_a: MONDO:0009612 {source="Orphanet:79312"} ! methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019268
name: epidermal disease
def: "A skin disease that involves the epidermis." [MONDO:patterns/location]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79353"}
subset: otar {source="MONDO:OTAR"}
synonym: "epidermal disease" EXACT [Orphanet:79353]
synonym: "rare epidermal disease" EXACT [Orphanet:79353]
xref: MEDGEN:1842776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79353 {source="MONDO:equivalentTo"}
xref: UMLS:C5681492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842776"}
is_a: MONDO:0005093 {source="Orphanet:79353"} ! skin disorder
relationship: disease_has_location UBERON:0001003 ! skin epidermis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019519"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI

[Term]
id: MONDO:0019269
name: ichthyosis
def: "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies." [PMID:22739337]
comment: Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. {xref="PMID:23792051"}
subset: disease_grouping
subset: gard_rare {source="GARD:18985", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79354"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of cornification" EXACT [PMID:20643494]
synonym: "DOC" EXACT ABBREVIATION [PMID:20643494]
synonym: "fish scale disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "fish skin disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "ichthyoses" EXACT [DOID:1697]
synonym: "ichthyosis" EXACT [MONDO:ambiguous]
synonym: "ichthyosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "non-syndromic ichthyosis" RELATED [DOID:1697]
xref: DOID:1697 {source="MONDO:equivalentTo"}
xref: GARD:18985 {source="MONDO:GARD"}
xref: HP:0008064 {source="MONDO:otherHierarchy"}
xref: MedDRA:10021198 {source="Orphanet:79354/e", source="Orphanet:79354"}
xref: MEDGEN:7002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007057 {source="Orphanet:79354/e", source="MONDO:equivalentTo", source="DOID:1697", source="Orphanet:79354"}
xref: NANDO:1200618 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84776 {source="MONDO:equivalentTo"}
xref: Orphanet:79354 {source="MONDO:equivalentTo", source="DOID:1697"}
xref: UMLS:C0020757 {source="MEDGEN:7002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019268 {source="Orphanet:79354"} ! epidermal disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2110" xsd:anyURI
property_value: IAO:0000589 "ichthyosis (disease)" xsd:string

[Term]
id: MONDO:0019270
name: erythrokeratoderma
def: "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time." [https://orcid.org/0000-0001-5208-3432, https://rarediseases.org/rare-diseases/https-rarediseases-org-rare-diseases-erythrokeratoderma/]
subset: disease_grouping
subset: gard_rare {source="GARD:18986", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79355"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18986 {source="MONDO:GARD"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10015280 {source="Orphanet:79355/e", source="Orphanet:79355"}
xref: MEDGEN:609461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79355 {source="MONDO:equivalentTo"}
xref: SCTID:254215005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432330 {source="MEDGEN:609461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019268 {source="Orphanet:79355"} ! epidermal disease

[Term]
id: MONDO:0019271
name: obsolete acrokeratoderma
subset: ordo_group_of_disorders {source="Orphanet:79356"}
xref: GARD:18987 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:79356/ntbt", source="Orphanet:79356"}
xref: Orphanet:79356 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019272
name: hereditary palmoplantar keratoderma
def: "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:18988", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79357"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary keratosis palmoplantaris" EXACT [Orphanet:79357]
synonym: "hereditary palmoplantar hyperkeratosis" EXACT [Orphanet:79357]
synonym: "hereditary palmoplantar keratosis" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary PPK" EXACT [Orphanet:79357]
xref: GARD:18988 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:79357/ntbt", source="Orphanet:79357/inclusion", source="Orphanet:79357"}
xref: icd11.foundation:1941547119 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79357"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:590657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79357 {source="MONDO:equivalentTo"}
xref: SCTID:239066003 {source="MONDO:equivalentTo"}
xref: UMLS:C0406757 {source="MEDGEN:590657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:79357"} ! disease
is_a: MONDO:0003847 {source="MONDO:Entailed", source="Orphanet:79357/inferred"} ! hereditary disease
is_a: MONDO:0006590 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! palmoplantar keratosis
is_a: MONDO:0019268 {source="Orphanet:79357"} ! epidermal disease
intersection_of: MONDO:0006590 ! palmoplantar keratosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare

[Term]
id: MONDO:0019273
name: obsolete porokeratosis
is_obsolete: true
replaced_by: MONDO:0006602

[Term]
id: MONDO:0019274
name: obsolete other epidermal disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79359"}
xref: GARD:18990 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79359 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019275
name: obsolete other genetic epidermal disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79360"}
xref: GARD:18991 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79360 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019276
name: inherited epidermolysis bullosa
def: "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." [Orphanet:79361]
subset: disease_grouping
subset: gard_rare {source="GARD:18992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79361"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermolysis bullosa hereditaria" EXACT [Orphanet:79361]
synonym: "hereditary epidermolysis bullosa" EXACT [MONDO:patterns/hereditary, Orphanet:79361]
xref: GARD:18992 {source="MONDO:GARD"}
xref: ICD10CM:Q81.0 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"}
xref: ICD10CM:Q81.1 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"}
xref: ICD10CM:Q81.2 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"}
xref: ICD10CM:Q81.8 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"}
xref: ICD10CM:Q81.9 {source="Orphanet:79361", source="Orphanet:79361/attributed", source="Orphanet:79361/ntbt"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:697573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79361 {source="MONDO:equivalentTo"}
xref: SCTID:402781004 {source="MONDO:equivalentTo"}
xref: UMLS:C1274224 {source="MEDGEN:697573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="MONDO:Redundant", source="Orphanet:79361"} ! disease
is_a: MONDO:0003847 {source="MONDO:Entailed", source="Orphanet:79361/inferred"} ! hereditary disease
is_a: MONDO:0006541 {source="MONDO:Redundant"} ! epidermolysis bullosa
is_a: MONDO:0019268 {source="Orphanet:79361"} ! epidermal disease
intersection_of: MONDO:0006541 ! epidermolysis bullosa
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare

[Term]
id: MONDO:0019277
name: obsolete epidermal appendage anomaly
subset: ordo_group_of_disorders {source="Orphanet:79362"}
xref: GARD:18993 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79362 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019278
name: hair anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79363"}
xref: MEDGEN:539624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79363 {source="MONDO:equivalentTo"}
xref: UMLS:C0265991 {source="MEDGEN:539624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0002-4142-7153"} ! integumentary system disorder
relationship: disease_has_location UBERON:0002074 ! hair shaft

[Term]
id: MONDO:0019279
name: obsolete alopecia
is_obsolete: true
replaced_by: MONDO:0004907

[Term]
id: MONDO:0019280
name: hypertrichosis
def: "Excessive hair growth anywhere on the body." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:18996", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79365"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hypertrichosis" EXACT [MONDO:ambiguous]
synonym: "hypertrichosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:420 {source="MONDO:equivalentTo"}
xref: GARD:18996 {source="MONDO:GARD"}
xref: HP:0000998 {source="MONDO:otherHierarchy"}
xref: ICD10CM:L68 {source="DOID:420"}
xref: ICD10CM:L68.3 {source="DOID:420"}
xref: ICD10CM:L68.9 {source="DOID:420"}
xref: MedDRA:10020864 {source="Orphanet:79365/e", source="Orphanet:79365"}
xref: MEDGEN:43787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006983 {source="Orphanet:79365/e", source="MONDO:equivalentTo", source="DOID:420", source="Orphanet:79365"}
xref: NCIT:C79597 {source="MONDO:otherHierarchy", source="DOID:420"}
xref: Orphanet:79365 {source="MONDO:equivalentTo", source="DOID:420"}
xref: SCTID:156409007 {source="DOID:420"}
xref: SCTID:201164001 {source="DOID:420"}
xref: SCTID:201165000 {source="DOID:420"}
xref: SCTID:271607001 {source="DOID:420"}
xref: SCTID:29966009 {source="MONDO:equivalentTo", source="DOID:420"}
xref: SCTID:40090008 {source="DOID:420"}
xref: UMLS:C0020555 {source="MEDGEN:43787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002917 {source="DOID:420", source="MESH:D006983", source="MONDO:Redundant", source="MONDO:indirect"} ! disorder of pilosebaceous unit
property_value: IAO:0000589 "hypertrichosis (disease)" xsd:string

[Term]
id: MONDO:0019281
name: obsolete isolated genetic hair shaft abnormality
subset: ordo_group_of_disorders {source="Orphanet:79366"}
synonym: "isolated hair shaft abnormality" RELATED [Orphanet:79366]
xref: GARD:18997 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79366 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019282
name: obsolete syndromic hair shaft abnormality
subset: ordo_group_of_disorders {source="Orphanet:79367"}
xref: GARD:18998 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79367 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0019278

[Term]
id: MONDO:0019283
name: nail anomaly
def: "A epidermal appendage anomaly that involves the nail." [MONDO:patterns/location]
subset: disease_grouping
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79368"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermal appendage anomaly of nail" EXACT [MONDO:design_pattern]
synonym: "nail epidermal appendage anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MedDRA:10028684 {source="Orphanet:79368/e", source="Orphanet:79368"}
xref: MEDGEN:539627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79368 {source="MONDO:equivalentTo"}
xref: UMLS:C0265997 {source="MEDGEN:539627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002884 {source="https://orcid.org/0000-0002-4142-7153"} ! nail disorder
relationship: disease_has_feature HP:0001597 ! Abnormality of the nail

[Term]
id: MONDO:0019284
name: inherited isolated nail anomaly
def: "A nail anomaly that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: disease_grouping
subset: gard_rare {source="GARD:19000", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79369"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated nail anomaly" RELATED [Orphanet:79369]
synonym: "nail disorder, nonsyndromic congenital" EXACT [MONDO:0000073]
synonym: "nonsyndromic nail anomaly" EXACT [MONDO:patterns/isolated]
xref: DOID:0080683 {source="MONDO:equivalentTo"}
xref: GARD:19000 {source="MONDO:GARD"}
xref: MEDGEN:1843192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:161050 {source="MONDO:equivalentTo"}
xref: Orphanet:79369 {source="MONDO:equivalentTo"}
xref: UMLS:C5681477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843192"}
intersection_of: MONDO:0002884 ! nail disorder
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:161050"} ! inherited

[Term]
id: MONDO:0019285
name: obsolete syndromic nail anomaly
def: "OBSOLETE. A nail anomaly that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79370"}
synonym: "syndrome associated with nail anomaly" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic nail anomaly" EXACT [MONDO:patterns/syndromic]
xref: GARD:19001 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79370 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0019283

[Term]
id: MONDO:0019286
name: obsolete sebaceous gland anomaly
def: "OBSOLETE. A epidermal appendage anomaly that involves the sebaceous gland." [MONDO:patterns/location]
subset: ordo_group_of_disorders {source="Orphanet:79372"}
synonym: "epidermal appendage anomaly of sebaceous gland" EXACT [MONDO:design_pattern]
synonym: "sebaceous gland epidermal appendage anomaly" EXACT [MONDO:patterns/location]
xref: GARD:19002 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79372 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019287
name: ectodermal dysplasia syndrome
def: "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." [Orphanet:79373]
subset: disease_grouping
subset: gard_rare {source="GARD:6317", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:79373"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital ectodermal defect" EXACT [DOID:2121]
synonym: "ectodermal dysplasia" EXACT [Orphanet:79373]
synonym: "ectodermal dysplasia (select examples)" EXACT [OMIMPS:305100]
xref: DOID:2121 {source="MONDO:equivalentTo"}
xref: GARD:6317 {source="MONDO:GARD"}
xref: icd11.foundation:1156567558 {source="MONDO:equivalentTo", source="Orphanet:79373", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:757.31 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10010452 {source="Orphanet:79373", source="Orphanet:79373/e"}
xref: MEDGEN:8544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004476 {source="MONDO:equivalentTo", source="Orphanet:79373", source="Orphanet:79373/e"}
xref: NCIT:C84683 {source="MONDO:equivalentTo"}
xref: OMIMPS:305100 {source="DOID:2121", source="MONDO:equivalentTo"}
xref: Orphanet:79373 {source="MONDO:equivalentTo"}
xref: SCTID:8654005 {source="MONDO:equivalentTo"}
xref: UMLS:C0013575 {source="MEDGEN:8544", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:2121", source="NCIT:C84683"} ! syndromic disease
is_a: MONDO:0021026 {source="Orphanet:79373"} ! hereditary epidermal appendage anomaly
relationship: disease_has_basis_in_development_of UBERON:0000924 ! ectoderm
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:305100"} ! inherited

[Term]
id: MONDO:0019288
name: skin pigmentation disorder
def: "A pigmentation disease that involves the zone of skin." [MONDO:design_pattern]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79374"}
subset: otar {source="MONDO:OTAR"}
synonym: "pigmentation anomaly of the skin" EXACT []
synonym: "pigmentation disease" RELATED [DOID:10123]
synonym: "pigmentation disease of zone of skin" EXACT [MONDO:design_pattern]
synonym: "zone of skin pigmentation disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:10123 {source="MONDO:equivalentTo", source="EFO:1000755"}
xref: ICD9:709.09 {source="DOID:10123"}
xref: MEDGEN:316465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010859 {source="MONDO:equivalentTo"}
xref: NCIT:C34557 {source="MONDO:equivalentTo"}
xref: Orphanet:79374 {source="MONDO:equivalentTo"}
xref: UMLS:C1704421 {source="MEDGEN:316465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:10123", source="EFO:1000755", source="MESH:D010859", source="MONDO:Redundant"} ! skin disorder

[Term]
id: MONDO:0019289
name: hyperpigmentation of the skin
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79375"}
subset: otar {source="MONDO:OTAR"}
xref: HP:0000953 {source="MONDO:otherHierarchy"}
xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:183466 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:79375 {source="MONDO:equivalentTo"}
xref: SCTID:49765009 {source="MONDO:equivalentTo"}
xref: UMLS:C0162834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57992"}
is_a: MONDO:0019288 {source="Orphanet:79375"} ! skin pigmentation disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_major_feature HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: MONDO:0019290
name: hypopigmentation of the skin
def: "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." [MESH:D017496]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79376"}
subset: otar {source="MONDO:OTAR"}
synonym: "hypomelanoses" RELATED [MESH:D017496]
synonym: "hypomelanosis" RELATED [MESH:D017496]
synonym: "hypopigmentation of the skin" EXACT [MONDO:ambiguous]
synonym: "hypopigmentation of the skin (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0001010 {source="MONDO:otherHierarchy"}
xref: MedDRA:10040868 {source="Orphanet:79376/e", source="Orphanet:79376"}
xref: MEDGEN:102477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017496 {source="MONDO:equivalentTo"}
xref: Orphanet:183469 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:79376 {source="MONDO:equivalentTo"}
xref: UMLS:C0162835 {source="MONDO:equivalentTo", source="MEDGEN:102477", source="MONDO:MEDGEN"}
is_a: MONDO:0019288 {source="MESH:D017496", source="Orphanet:79376"} ! skin pigmentation disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_major_feature HP:0001010 ! Hypopigmentation of the skin
property_value: IAO:0000589 "hypopigmentation of the skin (disease)" xsd:string

[Term]
id: MONDO:0019291
name: obsolete rare genetic dermis disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79377"}
synonym: "dermis disorder" RELATED [Orphanet:79377]
xref: GARD:19006 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79377 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021154

[Term]
id: MONDO:0019292
name: obsolete dermis elastic tissue disorder
subset: ordo_group_of_disorders {source="Orphanet:79378"}
xref: GARD:19007 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:228215 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:79378 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0019291 {source="MONDO:Redundant", source="Orphanet:79378", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic dermis disorder
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019293
name: skin vascular disease
def: "A disease that involves the superficial vasculature." [MONDO:patterns/location]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79379"}
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of blood vessels affecting skin" RELATED []
synonym: "skin vascular disorder" EXACT [NCIT:C35254]
synonym: "superficial vasculature disease" EXACT [MONDO:patterns/location]
synonym: "vascular disease of the skin" EXACT []
synonym: "vascular disorder of skin" RELATED []
synonym: "vascular disorders of skin" RELATED []
synonym: "vascular skin disease" EXACT [MONDO:0004814]
synonym: "vasculature skin disease" EXACT [MONDO:patterns/location]
xref: DOID:9540 {source="MONDO:equivalentTo"}
xref: ICD9:709.1 {source="DOID:9540"}
xref: MedDRA:10062171 {source="Orphanet:79379/e", source="Orphanet:79379"}
xref: MEDGEN:102473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017445 {source="Orphanet:79379/e", source="MONDO:equivalentTo", source="DOID:9540", source="Orphanet:79379"}
xref: NCIT:C35254 {source="MONDO:equivalentTo", source="DOID:9540"}
xref: Orphanet:79379 {source="MONDO:equivalentTo"}
xref: SCTID:11263005 {source="MONDO:equivalentTo", source="DOID:9540"}
xref: SCTID:201306008 {source="DOID:9540"}
xref: SCTID:267820009 {source="DOID:9540"}
xref: UMLS:C0162819 {source="MEDGEN:102473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="DOID:9540", source="MESH:D017445", source="MONDO:Redundant", source="NCIT:C35254"} ! skin disorder
is_a: MONDO:0005385 {source="MONDO:Redundant", source="NCIT:C35254"} ! vascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: MONDO:0005093 ! skin disorder
intersection_of: disease_has_location UBERON:0002049 ! vasculature
intersection_of: disease_has_location UBERON:0035549 ! vasculature of integument
relationship: excluded_subClassOf MONDO:0019291 {source="Orphanet:79379", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic dermis disorder

[Term]
id: MONDO:0019294
name: mixed dermis disorder
comment: Editor note: check if genetic
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79380"}
xref: MEDGEN:1842502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:183481 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:79380 {source="MONDO:equivalentTo"}
xref: UMLS:C5681484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842502"}
is_a: MONDO:0021154 {source="Orphanet:79380"} ! dermis disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019291"} ! rare

[Term]
id: MONDO:0019295
name: obsolete other dermis disorder
is_obsolete: true
consider: MONDO:0021154

[Term]
id: MONDO:0019296
name: subcutaneous tissue disorder
def: "A disease involving the superficial fascia." [MONDO:patterns/location_top]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79382"}
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of superficial fascia" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of superficial fascia" EXACT []
synonym: "disorder of superficial fascia" EXACT [MONDO:patterns/location_top]
synonym: "superficial fascia disease" EXACT [MONDO:patterns/location]
synonym: "superficial fascia disease or disorder" EXACT [MONDO:patterns/location]
xref: ICD10CM:L00-L99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L55-L59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:L80-L99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:712397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79382 {source="MONDO:equivalentTo"}
xref: UMLS:C1290008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:712397"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0011818 ! superficial fascia
relationship: excluded_subClassOf MONDO:0019043 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic skin disease

[Term]
id: MONDO:0019297
name: lymphedema
def: "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." [NCIT:C3207]
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "lymphatic edema" EXACT [DOID:4977]
synonym: "lymphatic edema (morphologic abnormality)" EXACT [DOID:4977]
synonym: "lymphatic oedema" EXACT OMO:0003005 []
synonym: "lymphatic oedema (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "lymphoedema" EXACT [DOID:4977]
synonym: "lymphoedema NOS" RELATED EXCLUDE [DOID:4977]
xref: DOID:4977 {source="MONDO:equivalentTo"}
xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10025282 {source="Orphanet:79383", source="Orphanet:79383/e"}
xref: MEDGEN:6155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008209 {source="MONDO:equivalentTo", source="DOID:4977", source="Orphanet:79383", source="Orphanet:79383/e"}
xref: NCIT:C3207 {source="MONDO:equivalentTo", source="DOID:4977", source="MONDO:exact-label-match"}
xref: Orphanet:79383 {source="MONDO:equivalentObsolete"}
xref: SCTID:155485008 {source="DOID:4977"}
xref: SCTID:195486001 {source="DOID:4977"}
xref: SCTID:234097001 {source="MONDO:equivalentTo", source="DOID:4977"}
xref: SCTID:266334008 {source="DOID:4977"}
xref: SCTID:30213001 {source="DOID:4977"}
xref: UMLS:C0024236 {source="MEDGEN:6155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005833 {source="DOID:4977", source="MESH:D008209"} ! lymphatic system disorder
relationship: excluded_subClassOf MONDO:0019043 {source="Orphanet:79383", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic skin disease

[Term]
id: MONDO:0019298
name: obsolete rare urticaria
def: "OBSOLETE. Rare urticaria." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79384"}
synonym: "rare hives" EXACT [MONDO:patterns/rare]
synonym: "rare urticaria" EXACT [MONDO:patterns/rare]
synonym: "rare urticaria (disease)" EXACT [MONDO:patterns/rare]
xref: GARD:19012 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79384 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005492

[Term]
id: MONDO:0019299
name: obsolete unclassified genetic skin disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79385"}
xref: GARD:19013 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79385 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0005093

[Term]
id: MONDO:0019300
name: obsolete rare skin tumor or hamartoma
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79386"}
xref: GARD:19014 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79386 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0019301
name: obsolete metabolic disease with skin involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:79387"}
xref: GARD:19015 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79387 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0019302
name: obsolete mucopolysaccharidosis with skin involvement
comment: Grouping class with a single child. It is a synonym for the child term.
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3785" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3787" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010674

[Term]
id: MONDO:0019303
name: premature aging syndrome
def: "Changes in the organism associated with senescence, occurring at an accelerated rate." [MESH:D019588]
subset: disease_grouping
subset: gard_rare {source="GARD:19017", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79389"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "premature ageing" RELATED OMO:0003005 []
synonym: "premature aging" RELATED [Orphanet:79389]
xref: GARD:19017 {source="MONDO:GARD"}
xref: MedDRA:10063493 {source="Orphanet:79389/e", source="Orphanet:79389"}
xref: MEDGEN:65416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019588 {source="Orphanet:79389/e", source="MONDO:equivalentTo", source="Orphanet:79389"}
xref: Orphanet:79389 {source="MONDO:equivalentTo"}
xref: UMLS:C0231341 {source="MEDGEN:65416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="https://orcid.org/0000-0002-2825-0621"} ! disease
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease
relationship: disease_disrupts GO:0007568 ! obsolete aging
relationship: excluded_subClassOf MONDO:0005093 {source="Orphanet:79389", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare

[Term]
id: MONDO:0019304
name: obsolete rare photodermatosis
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79390"}
synonym: "rare skin photosensitivity" EXACT [Orphanet:79390]
xref: GARD:19018 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79390 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019305
name: obsolete immune deficiency with skin involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immune system disease'
subset: ordo_group_of_disorders {source="Orphanet:79391"}
xref: GARD:19019 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:79391 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005046

[Term]
id: MONDO:0019306
name: congenital non-bullous ichthyosiform erythroderma
def: "A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." [Orphanet:79394]
subset: gard_rare {source="GARD:9736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79394"}
subset: orphanet_rare {source="Orphanet:79394"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alligator skin" EXACT [DOID:1699]
synonym: "CIE" EXACT ABBREVIATION [Orphanet:79394]
synonym: "congenital ichthyosiform erythroderma" EXACT [MONDO:ambiguous]
synonym: "congenital ichthyosiform erythroderma (disease)" EXACT [MONDO:0002080]
synonym: "congenital non bullous ichthyosiform erythroderma" EXACT [DOID:1699]
synonym: "erythrodermic ichthyosis" EXACT [Orphanet:79394]
synonym: "ichthyosiform erythroderma" EXACT [DOID:1699]
synonym: "lamellar desquamation of the newborn" RELATED [DOID:1699]
synonym: "lamellar ichthyosis" RELATED [DOID:1699]
synonym: "non-bullous congenital ichthyosiform erythroderma" EXACT [Orphanet:79394]
synonym: "nonbullous congenital ichthyosiform erythroderma" EXACT [DOID:1699]
xref: DOID:1699 {source="MONDO:equivalentObsolete"}
xref: GARD:9736 {source="MONDO:GARD"}
xref: HP:0007431 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q80.2 {source="DOID:1699", source="Orphanet:79394", source="Orphanet:79394/attributed", source="Orphanet:79394/ntbt"}
xref: MEDGEN:38180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016113 {source="DOID:1699"}
xref: MESH:D017490 {source="MONDO:relatedTo", source="DOID:1699"}
xref: NANDO:1200616 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200617 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84805 {source="MONDO:relatedTo", source="DOID:1699"}
xref: Orphanet:79394 {source="MONDO:equivalentTo"}
xref: SCTID:12215009 {source="DOID:1699"}
xref: SCTID:205549003 {source="DOID:1699"}
xref: SCTID:205550003 {source="MONDO:equivalentTo", source="DOID:1699"}
xref: SCTID:205556009 {source="DOID:1699"}
xref: SCTID:254156001 {source="DOID:1699"}
xref: SCTID:267372009 {source="DOID:1699"}
xref: SCTID:268245001 {source="DOID:1699"}
xref: SCTID:268282005 {source="DOID:1699"}
xref: SCTID:35970001 {source="DOID:1699"}
xref: UMLS:C0079154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38180"}
is_a: MONDO:0006025 {source="DOID:1699", source="MONDO:indirect"} ! autosomal recessive disease
is_a: MONDO:0017265 {source="Orphanet:79394"} ! autosomal recessive congenital ichthyosis
relationship: has_characteristic HP:0000007 {source="Orphanet:79394"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019307
name: generalized junctional epidermolysis bullosa non-Herlitz type
def: "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." [Orphanet:79402]
subset: gard_rare {source="GARD:12922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79402"}
subset: orphanet_rare {source="Orphanet:79402"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GABEB" EXACT ABBREVIATION [DOID:0060738, Orphanet:79402]
synonym: "generalised atrophic benign epidermolysis bullosa" EXACT OMO:0003005 []
synonym: "generalised junctional epidermolysis bullosa, non-Herlitz type" EXACT OMO:0003005 []
synonym: "generalized atrophic benign epidermolysis bullosa" EXACT [DOID:0060738, Orphanet:79402]
synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [DOID:0060738]
synonym: "JEB, generalised intermediate" EXACT OMO:0003005 []
synonym: "JEB, generalized intermediate" EXACT [Orphanet:79402]
synonym: "JEB-nH gen" EXACT [DOID:0060738, Orphanet:79402]
synonym: "JEN-nH" RELATED EXCLUDE [DOID:0060738]
synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT [DOID:0060738, Orphanet:79402]
synonym: "junctional epidermolysis bullosa non-Herlitz type" RELATED [DOID:0060738]
synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [DOID:0060738, Orphanet:79402]
synonym: "junctional epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 []
synonym: "junctional epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:79402]
xref: DOID:0060738 {source="MONDO:equivalentTo"}
xref: GARD:12922 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:79402", source="Orphanet:79402/attributed", source="Orphanet:79402/ntbt", source="DOID:0060738"}
xref: MEDGEN:609458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79402 {source="MONDO:equivalentTo", source="DOID:0060738"}
xref: Orphanet:89840 {source="DOID:0060738"}
xref: SCTID:724225008 {source="MONDO:equivalentTo"}
xref: UMLS:C0432326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609458"}
is_a: MONDO:0009180 {source="Orphanet:79402"} ! junctional epidermolysis bullosa, non-Herlitz type

[Term]
id: MONDO:0019308
name: junctional epidermolysis bullosa inversa
def: "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." [Orphanet:79405]
subset: gard_rare {source="GARD:2143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79405"}
subset: orphanet_rare {source="Orphanet:79405"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EBJ-I" EXACT [Orphanet:79405]
synonym: "inverse JEB" EXACT [Orphanet:79405]
synonym: "JEB-I" EXACT [Orphanet:79405]
xref: GARD:2143 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:79405", source="Orphanet:79405/attributed", source="Orphanet:79405/ntbt"}
xref: MEDGEN:382142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79405 {source="MONDO:equivalentTo"}
xref: UMLS:C2673609 {source="MEDGEN:382142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017612 {source="Orphanet:79405"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0019309
name: late-onset junctional epidermolysis bullosa
def: "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood." [Orphanet:79406]
subset: gard_rare {source="GARD:12921", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79406"}
subset: orphanet_rare {source="Orphanet:79406"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EB progressive" EXACT [Orphanet:79406]
synonym: "JEB-lo" EXACT [Orphanet:79406]
xref: GARD:12921 {source="MONDO:GARD"}
xref: ICD10CM:Q81.8 {source="Orphanet:79406/attributed", source="Orphanet:79406/ntbt", source="Orphanet:79406"}
xref: MEDGEN:930393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79406 {source="MONDO:equivalentTo"}
xref: SCTID:719432000 {source="MONDO:equivalentTo"}
xref: UMLS:C4304724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930393"}
is_a: MONDO:0017612 {source="Orphanet:79406"} ! junctional epidermolysis bullosa
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa" xsd:anyURI {source="GARD:0012921"}

[Term]
id: MONDO:0019310
name: recessive dystrophic epidermolysis bullosa inversa
def: "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." [Orphanet:79409]
subset: gard_rare {source="GARD:16720", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79409"}
subset: orphanet_rare {source="Orphanet:79409"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystrophic epidermolysis bullosa inversa" EXACT [Orphanet:79409]
synonym: "inverse RDEB" EXACT [Orphanet:79409]
synonym: "inverse recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:79409]
synonym: "RDEB-I" EXACT [Orphanet:79409]
xref: GARD:16720 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:79409", source="Orphanet:79409/attributed", source="Orphanet:79409/ntbt"}
xref: MEDGEN:698413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79409 {source="MONDO:equivalentTo"}
xref: UMLS:C1275113 {source="MONDO:equivalentTo", source="MEDGEN:698413", source="MONDO:MEDGEN"}
is_a: MONDO:0009179 {source="https://orcid.org/0000-0001-5208-3432"} ! recessive dystrophic epidermolysis bullosa

[Term]
id: MONDO:0019311
name: wooly hair nevus
def: "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." [Orphanet:79414]
subset: gard_rare {source="GARD:13025", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79414"}
subset: orphanet_rare {source="Orphanet:79414"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "wooly hair nevus" EXACT [Orphanet:79414]
xref: GARD:13025 {source="MONDO:GARD"}
xref: ICD10CM:D23.4 {source="Orphanet:79414", source="Orphanet:79414/attributed", source="Orphanet:79414/ntbt"}
xref: MEDGEN:575391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79414 {source="MONDO:equivalentTo"}
xref: SCTID:239124001 {source="MONDO:equivalentTo"}
xref: UMLS:C0343114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575391"}
is_a: MONDO:0008093 ! nevus, epidermal

[Term]
id: MONDO:0019312
name: Hermansky-Pudlak syndrome
def: "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." [Orphanet:79430]
subset: gard_rare {source="GARD:6643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1918"}
subset: ordo_disorder {source="Orphanet:79430"}
subset: orphanet_rare {source="Orphanet:79430"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hepatopulmonary Syndrome" EXACT [NORD:1918]
synonym: "Hermansky Pudlak syndrome" RELATED [GARD:0006643]
synonym: "HPS" EXACT ABBREVIATION [Orphanet:79430]
synonym: "HPS (Hermansky Pudlak syndrome)" EXACT [DOID:3753]
xref: DOID:3753 {source="MONDO:equivalentTo"}
xref: GARD:6643 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79430/inclusion", source="Orphanet:79430", source="Orphanet:79430/ntbt"}
xref: ICD10CM:E70.331 {source="DOID:3753", source="MONDO:equivalentTo"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071775 {source="Orphanet:79430/e", source="Orphanet:79430"}
xref: MEDGEN:36313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D022861 {source="DOID:3753", source="MONDO:equivalentTo"}
xref: NANDO:1200638 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C37261 {source="DOID:3753", source="MONDO:equivalentTo"}
xref: NORD:1918 {source="MONDO:NORD"}
xref: OMIMPS:203300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:231531 {source="DOID:3753"}
xref: Orphanet:231537 {source="DOID:3753"}
xref: Orphanet:280663 {source="DOID:3753"}
xref: Orphanet:79430 {source="DOID:3753", source="MONDO:equivalentTo"}
xref: SCTID:190697008 {source="DOID:3753"}
xref: SCTID:60255003 {source="DOID:3753"}
xref: SCTID:9311003 {source="DOID:3753", source="MONDO:equivalentTo"}
xref: UMLS:C0079504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:36313"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C37261"} ! syndromic disease
is_a: MONDO:0017305 {source="Orphanet:79430"} ! syndromic oculocutaneous albinism
is_a: MONDO:0017739 {source="Orphanet:79430"} ! disorder of lysosomal-related organelles
is_a: MONDO:0021181 {source="MESH:D022861", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited blood coagulation disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:203300"} ! inherited

[Term]
id: MONDO:0019313
name: lymphatic malformation
def: "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation." [PMID:22831870]
subset: gard_rare {source="GARD:13057", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary lymphedema" EXACT [MONDO:patterns/hereditary]
synonym: "lymphedema, hereditary" EXACT [OMIMPS:153100]
xref: DOID:0050580 {source="MONDO:equivalentTo"}
xref: GARD:13057 {source="MONDO:GARD"}
xref: ICD10CM:Q82.0 {source="MONDO:equivalentTo", source="Orphanet:79452", source="Orphanet:79452/attributed", source="Orphanet:79452/ntbt"}
xref: ICD9:757.0 {source="DOID:0050580"}
xref: MEDGEN:140763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:153100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:79452 {source="DOID:0050580"}
xref: SCTID:205542007 {source="DOID:0050580"}
xref: SCTID:205543002 {source="DOID:0050580"}
xref: SCTID:205546005 {source="DOID:0050580"}
xref: SCTID:254199006 {source="MONDO:equivalentTo"}
xref: SCTID:399889006
xref: SCTID:75127007 {source="DOID:0050580"}
xref: UMLS:C0398368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140763"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
is_a: MONDO:0019175 {source="Orphanet:79452", source="Orphanet:79452/inferred"} ! primary lymphedema
intersection_of: MONDO:0019297 ! lymphedema
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:153100"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019314
name: cutaneous mastocytoma
def: "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin." [Orphanet:79455]
subset: gard_rare {source="GARD:12687", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79455"}
subset: orphanet_rare {source="Orphanet:79455"}
subset: rare
synonym: "cutaneous local mastocytoma" EXACT [Orphanet:79455]
synonym: "multiple mastocytoma" EXACT [Orphanet:79455]
synonym: "solitary mastocytoma" EXACT [Orphanet:79455]
xref: GARD:12687 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:79455/ntbt", source="Orphanet:79455"}
xref: MEDGEN:83357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054705 {source="MONDO:relatedTo", source="Orphanet:79455/e", source="Orphanet:79455"}
xref: Orphanet:79455 {source="MONDO:equivalentTo"}
xref: UMLS:C0343115 {source="MEDGEN:83357", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019023 {source="Orphanet:79455"} ! cutaneous mastocytosis

[Term]
id: MONDO:0019315
name: diffuse cutaneous mastocytosis
def: "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM)." [Orphanet:79456]
subset: gard_rare {source="GARD:12686", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79456"}
subset: orphanet_rare {source="Orphanet:79456"}
subset: rare
synonym: "DCM" BROAD ABBREVIATION [Orphanet:79456]
synonym: "diffuse cutaneous maculopapulous mastocytosis" EXACT [Orphanet:79456]
synonym: "diffuse cutaneous mastocytosis" EXACT [DOID:3665, MONDO:0002725, NCIT:C3218]
xref: DOID:3665 {source="MONDO:equivalentTo"}
xref: GARD:12686 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:79456/ntbt", source="Orphanet:79456"}
xref: ICDO:9740/1 {source="NCIT:C3218"}
xref: MedDRA:10012812 {source="Orphanet:79456/e", source="Orphanet:79456"}
xref: MEDGEN:44303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034701 {source="DOID:3665"}
xref: NCIT:C3218 {source="DOID:3665", source="MONDO:equivalentTo"}
xref: Orphanet:79456 {source="MONDO:equivalentTo"}
xref: SCTID:703826004 {source="DOID:3665"}
xref: UMLS:C0024901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44303"}
is_a: MONDO:0019023 {source="DOID:3665", source="NCIT:C3218/inferred", source="Orphanet:79456"} ! cutaneous mastocytosis

[Term]
id: MONDO:0019316
name: maculopapular cutaneous mastocytosis
def: "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." [Orphanet:79457]
subset: gard_rare {source="GARD:16723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79457"}
subset: orphanet_rare {source="Orphanet:79457"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Paucicellular mastocytosis" RELATED [GARD:0013079]
synonym: "telangiectasia macularis eruptive perstans" RELATED [GARD:0013079]
synonym: "telangiectatic cutaneous mastocytosis" RELATED [GARD:0013079]
synonym: "UP/MPCM" EXACT [DOID:12309, NCIT:C3433]
synonym: "urticaria pigmentosa" EXACT [MONDO:0001489, Orphanet:79457]
synonym: "urticaria pigmentosa/maculopapular cutaneous mastocytosis" EXACT [NCIT:C3433]
xref: DOID:12309 {source="MONDO:equivalentTo"}
xref: EFO:1001229 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16723 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:79457", source="Orphanet:79457/ntbt", source="DOID:12309"}
xref: icd11.foundation:245322245 {source="Orphanet:79457", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9740/1 {source="NCIT:C3433"}
xref: MedDRA:10046752 {source="Orphanet:79457", source="Orphanet:79457/e"}
xref: MEDGEN:22588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014582 {source="Orphanet:79457", source="DOID:12309", source="Orphanet:79457/e"}
xref: NCIT:C3433 {source="MONDO:equivalentTo", source="DOID:12309"}
xref: Orphanet:79457 {source="MONDO:equivalentTo"}
xref: SCTID:205566001 {source="DOID:12309"}
xref: SCTID:703828003 {source="DOID:12309"}
xref: SCTID:78745000 {source="MONDO:equivalentTo", source="DOID:12309"}
xref: UMLS:C0042111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22588"}
is_a: MONDO:0019023 {source="DOID:12309", source="NCIT:C3433/inferred", source="Orphanet:79457"} ! cutaneous mastocytosis

[Term]
id: MONDO:0019317
name: follicular atrophoderma-basal cell carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:L98.8 {source="Orphanet:79459/attributed", source="Orphanet:79459/ntbt", source="Orphanet:79459"}
xref: Orphanet:79459 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0010535 {source="Orphanet:79459"} ! Bazex-Dupre-Christol syndrome

[Term]
id: MONDO:0019318
name: inflammatory linear verrucous epidermal nevus
subset: gard_rare {source="GARD:5484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79466"}
subset: rare
synonym: "ILVEN" EXACT ABBREVIATION [Orphanet:79466]
synonym: "inflammatory linear verrucous epidermal naevus" RELATED [GARD:0005484]
synonym: "linear verrucose epidermal nevus" RELATED [GARD:0005484]
xref: GARD:5484 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:79466/ntbt", source="Orphanet:79466"}
xref: MEDGEN:96878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79466 {source="MONDO:equivalentTo"}
xref: SCTID:399995006 {source="MONDO:equivalentTo"}
xref: UMLS:C0473574 {source="MEDGEN:96878", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016831 {source="Orphanet:79466"} ! linear verrucous nevus syndrome

[Term]
id: MONDO:0019319
name: verrucous nevus
def: "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings." [NCIT:C4674]
subset: gard_rare {source="GARD:19020", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79467"}
subset: rare
synonym: "verrucous Epidermal Nevus" EXACT [NCIT:C4674]
xref: GARD:19020 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:79467/ntbt", source="Orphanet:79467"}
xref: MEDGEN:83927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4674 {source="MONDO:equivalentTo"}
xref: Orphanet:79467 {source="MONDO:equivalentTo"}
xref: SCTID:398723007 {source="MONDO:equivalentTo"}
xref: UMLS:C0362030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83927"}
is_a: MONDO:0016831 {source="Orphanet:79467"} ! linear verrucous nevus syndrome

[Term]
id: MONDO:0019320
name: acanthokeratolytic verrucous nevus
subset: gard_rare {source="GARD:5485", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79468"}
subset: rare
synonym: "verrucous nevus acanthokeratolytic" RELATED [GARD:0005485]
xref: GARD:5485 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:79468", source="Orphanet:79468/ntbt"}
xref: MEDGEN:1826155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79468 {source="MONDO:equivalentTo"}
xref: UMLS:C5681486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826155"}
is_a: MONDO:0016831 {source="Orphanet:79468"} ! linear verrucous nevus syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5485/verrucous-nevus-acanthokeratolytic" xsd:anyURI {source="GARD:0005485"}

[Term]
id: MONDO:0019321
name: atypical Werner syndrome
def: "A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." [Orphanet:79474]
subset: gard_rare {source="GARD:11910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79474"}
subset: orphanet_rare {source="Orphanet:79474"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical progeroid syndrome" EXACT [Orphanet:79474]
xref: GARD:11910 {source="MONDO:GARD"}
xref: ICD10CM:E34.8 {source="Orphanet:79474", source="Orphanet:79474/attributed", source="Orphanet:79474/ntbt"}
xref: MEDGEN:894770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79474 {source="MONDO:equivalentTo"}
xref: SCTID:715633008 {source="MONDO:equivalentTo"}
xref: UMLS:C4275075 {source="MEDGEN:894770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
is_a: MONDO:0021147 {source="Orphanet:79474", source="Orphanet:79474/inferred"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:79474", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome" xsd:anyURI {source="GARD:0011910"}

[Term]
id: MONDO:0019322
name: pemphigus vegetans
subset: gard_rare {source="GARD:19021", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79479"}
subset: orphanet_rare {source="Orphanet:79479"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: EFO:0008613 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19021 {source="MONDO:GARD"}
xref: ICD10CM:L10.1 {source="Orphanet:79479", source="MONDO:equivalentTo", source="Orphanet:79479/e"}
xref: MedDRA:10057053 {source="Orphanet:79479", source="Orphanet:79479/e"}
xref: MEDGEN:537814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200232 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:79479 {source="MONDO:equivalentTo"}
xref: SCTID:81285006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263316 {source="MEDGEN:537814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008219 {source="EFO:0008613", source="Orphanet:79479"} ! pemphigus vulgaris

[Term]
id: MONDO:0019323
name: pemphigus erythematosus
def: "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." [Orphanet:79480]
subset: gard_rare {source="GARD:19022", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79480"}
subset: orphanet_rare {source="Orphanet:79480"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "seborrheic pemphigus" EXACT [Orphanet:79480]
synonym: "Senear-Usher syndrome" EXACT [Orphanet:79480]
xref: EFO:0008603 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19022 {source="MONDO:GARD"}
xref: ICD10CM:L10.4 {source="MONDO:equivalentTo", source="Orphanet:79480", source="Orphanet:79480/ntbt"}
xref: MedDRA:10058917 {source="Orphanet:79480", source="Orphanet:79480/e"}
xref: MEDGEN:537812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200233 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:79480 {source="MONDO:equivalentTo"}
xref: SCTID:36739006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263312 {source="MEDGEN:537812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0006594 {source="PMID:22527297", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0009-0001-6494-4831"} ! pemphigus
is_a: MONDO:0019337 {source="https://orcid.org/0000-0001-7941-2961"} ! autoimmune bullous skin disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0019324
name: pemphigus foliaceus
def: "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed." [Orphanet:79481]
subset: gard_rare {source="GARD:7354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79481"}
subset: orphanet_rare {source="Orphanet:79481"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PF" RELATED ABBREVIATION [GARD:0007354]
xref: DOID:0080850 {source="MONDO:equivalentTo"}
xref: EFO:0008601 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7354 {source="MONDO:GARD"}
xref: HGNC:3050 {source="GARD:0007354"}
xref: ICD10CM:L10.2 {source="Orphanet:79481", source="Orphanet:79481/ntbt"}
xref: icd11.foundation:24246260 {source="MONDO:equivalentTo", source="Orphanet:79481"}
xref: MedDRA:10057069 {source="Orphanet:79481", source="Orphanet:79481/e"}
xref: MEDGEN:75513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200230 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:79481 {source="MONDO:equivalentTo"}
xref: SCTID:35154004 {source="MONDO:equivalentTo"}
xref: UMLS:C0263313 {source="MEDGEN:75513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0006594 {source="PMID:24424192", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0009-0001-6494-4831"} ! pemphigus
is_a: MONDO:0019337 {source="PMID:29763004", source="https://orcid.org/0000-0001-7941-2961"} ! autoimmune bullous skin disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus" xsd:anyURI {source="GARD:0007354"}

[Term]
id: MONDO:0019325
name: phakomatosis cesioflammea
subset: gard_rare {source="GARD:19023", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79483"}
subset: rare
synonym: "phakomatosis pigmentovascularis type 2" EXACT [Orphanet:79483]
xref: GARD:19023 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:79483", source="Orphanet:79483/attributed", source="Orphanet:79483/ntbt"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:824729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79483 {source="MONDO:equivalentTo"}
xref: SCTID:703284009 {source="MONDO:equivalentTo"}
xref: UMLS:C3838883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:824729"}
is_a: MONDO:0017318 {source="Orphanet:79483"} ! phakomatosis pigmentovascularis

[Term]
id: MONDO:0019326
name: phakomatosis cesiomarmorata
subset: gard_rare {source="GARD:19024", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79484"}
subset: rare
synonym: "phakomatosis caesiomarmorata" EXACT []
synonym: "phakomatosis cesiomarmorata" EXACT []
synonym: "phakomatosis pigmentovascularis type 5" EXACT [Orphanet:79484]
xref: GARD:19024 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:79484/attributed", source="Orphanet:79484/ntbt", source="Orphanet:79484"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:825141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79484 {source="MONDO:equivalentTo"}
xref: SCTID:703286006 {source="MONDO:equivalentTo"}
xref: UMLS:C3839296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:825141"}
is_a: MONDO:0017318 {source="Orphanet:79484"} ! phakomatosis pigmentovascularis

[Term]
id: MONDO:0019327
name: phakomatosis spilorosea
subset: gard_rare {source="GARD:19025", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79485"}
subset: rare
synonym: "phakomatosis pigmentovascularis type 3" EXACT [Orphanet:79485]
xref: GARD:19025 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:79485", source="Orphanet:79485/attributed", source="Orphanet:79485/ntbt"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:825608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79485 {source="MONDO:equivalentTo"}
xref: SCTID:703285005 {source="MONDO:equivalentTo"}
xref: UMLS:C3839763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:825608"}
is_a: MONDO:0017318 {source="Orphanet:79485"} ! phakomatosis pigmentovascularis

[Term]
id: MONDO:0019328
name: macrocystic lymphatic malformation
def: "A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces." [NCIT:C53316]
subset: gard_rare {source="GARD:6010", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79489"}
subset: ordo_malformation_syndrome {source="Orphanet:79489"}
subset: orphanet_rare {source="Orphanet:79489"}
subset: rare
synonym: "cavernous lymphangioma" EXACT [Orphanet:79489]
synonym: "cavernous lymphatic malformation" EXACT [Orphanet:79489]
synonym: "macrocystic lymphangioma" EXACT [Orphanet:79489]
xref: GARD:6010 {source="MONDO:GARD"}
xref: ICD10CM:D18.1 {source="Orphanet:79489/ntbt", source="Orphanet:79489"}
xref: icd11.foundation:1525487462 {source="MONDO:equivalentTo", source="Orphanet:79489"}
xref: MEDGEN:104729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200881 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C53316 {source="MONDO:equivalentTo"}
xref: Orphanet:79489 {source="MONDO:equivalentTo"}
xref: UMLS:C0205828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104729"}
is_a: MONDO:0002013 {source="NCIT:C53316", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! lymphangioma
is_a: MONDO:0005833 {source="PMID:31932019", source="https://orcid.org/0000-0001-7941-2961"} ! lymphatic system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0019329
name: microcystic lymphatic malformation
subset: gard_rare {source="GARD:13020", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79490"}
subset: ordo_malformation_syndrome {source="Orphanet:79490"}
subset: orphanet_rare {source="Orphanet:79490"}
subset: rare
synonym: "capillary lymphangioma" RELATED [Orphanet:79490]
synonym: "capillary lymphatic malformation" EXACT [Orphanet:79490]
synonym: "cutaneous lymphangioma circumscriptum" EXACT [Orphanet:79490]
synonym: "microcystic infiltrating lymphatic malformation" EXACT [Orphanet:79490]
synonym: "microcystic lymphangioma" EXACT [Orphanet:79490]
synonym: "superficial lymphangioma" EXACT [Orphanet:79490]
synonym: "superficial lymphatic malformation" EXACT [Orphanet:79490]
xref: GARD:13020 {source="MONDO:GARD"}
xref: ICD10CM:D18.1 {source="Orphanet:79490/ntbt", source="Orphanet:79490"}
xref: icd11.foundation:1796778763 {source="Orphanet:79490", source="MONDO:equivalentTo"}
xref: MEDGEN:1843242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79490 {source="MONDO:equivalentTo"}
xref: UMLS:C4738056 {source="MEDGEN:1843242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002013 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! lymphangioma
is_a: MONDO:0005833 {source="PMID:31932019", source="https://orcid.org/0000-0001-7941-2961"} ! lymphatic system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0019330
name: pili gemini
def: "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." [Orphanet:79492]
subset: gard_rare {source="GARD:19026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79492"}
subset: orphanet_rare {source="Orphanet:79492"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pili multigemini" EXACT [Orphanet:79492]
xref: GARD:19026 {source="MONDO:GARD"}
xref: ICD10CM:L67.8 {source="Orphanet:79492", source="Orphanet:79492/attributed", source="Orphanet:79492/ntbt"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:42460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537188 {source="MONDO:equivalentTo"}
xref: Orphanet:79492 {source="MONDO:equivalentTo"}
xref: SCTID:42829009 {source="MONDO:equivalentTo"}
xref: UMLS:C0019571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42460"}
is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly

[Term]
id: MONDO:0019331
name: obsolete rare form of salmonellosis
comment: We want to remove rare X terms from Mondo.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1747" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000827

[Term]
id: MONDO:0019332
name: punctate palmoplantar keratoderma type 1
def: "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.." [Orphanet:79501]
subset: gard_rare {source="GARD:3103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79501"}
subset: orphanet_rare {source="Orphanet:79501"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Brauer-Buschke-Fischer syndrome" RELATED [GARD:0003103]
synonym: "Buschke-Fischer-Brauer syndrome" EXACT [Orphanet:79501]
synonym: "keratoderma, palmoplantar punctate type 1" RELATED [GARD:0003103]
synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" EXACT [Orphanet:79501]
synonym: "PPKP1" EXACT ABBREVIATION [Orphanet:79501]
synonym: "punctate palmoplantar keratoderma type I" RELATED [GARD:0003103]
synonym: "type I punctate palmoplantar keratoderma" RELATED [GARD:0003103]
xref: GARD:3103 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:79501", source="Orphanet:79501/attributed", source="Orphanet:79501/ntbt"}
xref: MEDGEN:372099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79501 {source="MONDO:equivalentTo"}
xref: SCTID:717184007 {source="MONDO:equivalentTo"}
xref: UMLS:C1835662 {source="MEDGEN:372099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0017675 {source="https://orcid.org/0000-0001-5208-3432"} ! punctate palmoplantar keratoderma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019333
name: autosomal recessive hyperinsulinism due to SUR1 deficiency
subset: gard_rare {source="GARD:16726", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79643"}
subset: orphanet_rare {source="Orphanet:79643"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [Orphanet:79643]
xref: GARD:16726 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:79643/attributed", source="Orphanet:79643/ntbt", source="Orphanet:79643"}
xref: MEDGEN:1683144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79643 {source="MONDO:equivalentTo"}
xref: UMLS:C5191077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683144"}
is_a: MONDO:0009734 ! hyperinsulinemic hypoglycemia, familial, 1
is_a: MONDO:0015625 {source="Orphanet:79643"} ! diazoxide-resistant diffuse hyperinsulinism

[Term]
id: MONDO:0019334
name: autosomal recessive hyperinsulinism due to Kir6.2 deficiency
subset: gard_rare {source="GARD:16727", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:79644"}
subset: orphanet_rare {source="Orphanet:79644"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [Orphanet:79644]
xref: GARD:16727 {source="MONDO:GARD"}
xref: ICD10CM:E16.1 {source="Orphanet:79644", source="Orphanet:79644/attributed", source="Orphanet:79644/ntbt"}
xref: MEDGEN:1677653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79644 {source="MONDO:equivalentTo"}
xref: UMLS:C5191078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677653"}
is_a: MONDO:0011153 ! hyperinsulinemic hypoglycemia, familial, 2
is_a: MONDO:0015625 {source="Orphanet:79644"} ! diazoxide-resistant diffuse hyperinsulinism

[Term]
id: MONDO:0019335
name: mild hyperphenylalaninemia
def: "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." [Orphanet:79651]
subset: gard_rare {source="GARD:19027", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79651"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mHPA" EXACT [Orphanet:79651]
synonym: "mild HPA" EXACT [Orphanet:79651]
synonym: "non-PKU HPA" EXACT [Orphanet:79651]
xref: GARD:19027 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:79651/attributed", source="Orphanet:79651/ntbt", source="Orphanet:79651"}
xref: MEDGEN:1843033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79651 {source="MONDO:equivalentTo"}
xref: UMLS:C5680207 {source="MEDGEN:1843033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009861 {source="Orphanet:79651"} ! phenylketonuria
relationship: has_characteristic HP:0000007 {source="Orphanet:79651"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0019336
name: Gardner syndrome
def: "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." [Orphanet:79665]
subset: gard_rare {source="GARD:6482", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gardner syndrome" EXACT [NCIT:C6728]
synonym: "Gardner's syndrome" EXACT [NCIT:C6728]
synonym: "intestinal polyposis, osteomas, sebaceous cysts" RELATED [GARD:0006482]
synonym: "polyposis coli and multiple hard and soft tissue tumors" RELATED [GARD:0006482]
synonym: "polyposis coli and multiple hard and soft tissue tumours" RELATED OMO:0003005 []
xref: GARD:6482 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:79665/attributed", source="Orphanet:79665/ntbt", source="Orphanet:79665"}
xref: icd11.foundation:1428130769 {source="MONDO:equivalentTo", source="Orphanet:79665"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10017727 {source="Orphanet:79665/e", source="Orphanet:79665"}
xref: MEDGEN:6547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005736 {source="Orphanet:79665/e", source="MONDO:equivalentTo", source="Orphanet:79665"}
xref: NCIT:C6728 {source="MONDO:equivalentTo"}
xref: Orphanet:79665 {source="MONDO:equivalentTo"}
xref: SCTID:60876000 {source="MONDO:equivalentTo"}
xref: UMLS:C0017097 {source="MEDGEN:6547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0021055 {source="NCIT:C6728", source="Orphanet:79665"} ! classic familial adenomatous polyposis
relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:79665", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited skin tumor
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79665", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
relationship: excluded_subClassOf MONDO:0020063 {source="Orphanet:79665", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformation syndrome with hamartosis
relationship: excluded_subClassOf MONDO:0020176 {source="Orphanet:79665", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete palpebral sebaceous gland tumor
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0019337
name: autoimmune bullous skin disease
def: "An autoimmune disease characterized by blisters on the skin." [https://orcid.org/0000-0002-6601-2165]
subset: disease_grouping
subset: gard_rare {source="GARD:19028", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:79669"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bullous dermatosis" RELATED []
synonym: "bullous skin disease" BROAD [MONDO:0006529]
xref: DOID:8502 {source="MONDO:equivalentTo", source="EFO:1000673"}
xref: EFO:0008598 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19028 {source="MONDO:GARD"}
xref: ICD9:694.8 {source="DOID:8502", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:694.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1842418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79669 {source="MONDO:equivalentTo"}
xref: SCTID:200916004 {source="DOID:8502"}
xref: SCTID:7231009 {source="MONDO:equivalentTo"}
xref: UMLS:C5681494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842418"}
is_a: MONDO:0002406 {source="DOID:8502"} ! dermatitis
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_feature HP:0008066 ! Abnormal blistering of the skin

[Term]
id: MONDO:0019338
name: sarcoidosis
def: "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." [Orphanet:797]
comment: Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230).
subset: gard_rare {source="GARD:7607", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1690", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:797"}
subset: orphanet_rare {source="Orphanet:797"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign lymphogranulomatosis of Schaumann" RELATED []
synonym: "Besnier-Boeck-Schaumann disease" EXACT [Orphanet:797]
synonym: "besnier-Boeck-Schaumann syndrome" EXACT []
synonym: "Boeck sarcoid" EXACT [DOID:11335, Orphanet:797]
synonym: "Boeck's sarcoid" EXACT [Orphanet:797]
synonym: "Boeck's sarcoidosis" EXACT []
synonym: "Darier-Roussy sarcoid" EXACT []
synonym: "lupus pernio of Besnier" RELATED []
synonym: "lymphogranulomatosis" EXACT [DOID:11335]
synonym: "miliary lupoid of boeck" RELATED []
synonym: "sarcoid" EXACT [NCIT:C34995]
synonym: "sarcoidosis" EXACT []
xref: DOID:11335 {source="MONDO:equivalentTo"}
xref: GARD:7607 {source="MONDO:GARD"}
xref: ICD10CM:D80-D89 {source="DOID:11335"}
xref: ICD10CM:D86 {source="DOID:11335"}
xref: ICD10CM:D86.0 {source="Orphanet:797", source="Orphanet:797/btnt"}
xref: ICD10CM:D86.1 {source="Orphanet:797", source="Orphanet:797/btnt"}
xref: ICD10CM:D86.2 {source="Orphanet:797", source="Orphanet:797/btnt"}
xref: ICD10CM:D86.3 {source="Orphanet:797", source="Orphanet:797/btnt"}
xref: ICD10CM:D86.8 {source="Orphanet:797", source="Orphanet:797/btnt"}
xref: ICD10CM:D86.9 {source="Orphanet:797", source="DOID:11335", source="Orphanet:797/btnt"}
xref: ICD9:135 {source="DOID:11335"}
xref: MedDRA:10039486 {source="Orphanet:797", source="Orphanet:797/e"}
xref: MEDGEN:48554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012507 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="Orphanet:797/e"}
xref: NANDO:1200415 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34995 {source="DOID:11335", source="MONDO:equivalentTo"}
xref: NORD:1690 {source="MONDO:NORD"}
xref: Orphanet:797 {source="DOID:11335", source="MONDO:equivalentTo"}
xref: SCTID:154425004 {source="DOID:11335"}
xref: SCTID:31541009 {source="DOID:11335", source="MONDO:equivalentTo"}
xref: UMLS:C0036202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48554"}
is_a: MONDO:0019751 {source="PMID:33807303", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-5002-8648"} ! autoinflammatory syndrome
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:11335", source="https://orcid.org/0000-0001-5208-3432"} ! type IV hypersensitivity disease
relationship: excluded_subClassOf MONDO:0007179 {source="NCIT:C34995", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease
relationship: excluded_subClassOf MONDO:0015657 {source="Orphanet:797", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inflammatory and autoimmune disease with epilepsy
relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:797", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy
relationship: excluded_subClassOf MONDO:0016345 {source="Orphanet:797", source="https://orcid.org/0000-0001-5208-3432"} ! non-familial restrictive cardiomyopathy
relationship: excluded_subClassOf MONDO:0017259 {source="Orphanet:797", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic diseases with anterior uveitis
relationship: excluded_subClassOf MONDO:0017260 {source="Orphanet:797", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic diseases with posterior uveitis
relationship: excluded_subClassOf MONDO:0017261 {source="Orphanet:797", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete systemic diseases with panuveitis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:797", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: excluded_subClassOf MONDO:0019843 {source="Orphanet:797", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pituitary hormone deficiency secondary to a granulomatous disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0019339
name: 47,XYY syndrome
def: "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder." [Orphanet:8]
subset: gard_rare {source="GARD:5674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1871"}
subset: ordo_disorder {source="Orphanet:8"}
subset: ordo_malformation_syndrome {source="Orphanet:8"}
subset: orphanet_rare {source="Orphanet:8"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "47, XYY syndrome" RELATED [GARD:0005674]
synonym: "47,XYY" EXACT [NCIT:C85237]
synonym: "47,XYY syndrome" EXACT [NCIT:C85237]
synonym: "disomy Y" EXACT [Orphanet:8]
synonym: "Double Y" EXACT [Orphanet:8]
synonym: "Double Y syndrome" EXACT [Orphanet:8]
synonym: "XYY karyotype" EXACT [NCIT:C85237]
synonym: "XYY Syndrome" EXACT [NORD:1871]
synonym: "XYY syndrome" EXACT [NCIT:C85237]
synonym: "Y disomy" EXACT [Orphanet:8]
synonym: "YY syndrome" RELATED [GARD:0005674]
xref: GARD:5674 {source="MONDO:GARD"}
xref: ICD10CM:Q98.5 {source="Orphanet:8", source="Orphanet:8/specific", source="Orphanet:8/e"}
xref: MedDRA:10056894 {source="Orphanet:8", source="Orphanet:8/e"}
xref: MEDGEN:473794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535317 {source="Orphanet:8", source="MONDO:equivalentTo", source="Orphanet:8/e"}
xref: MESH:D014997 {source="Orphanet:8", source="Orphanet:8/e"}
xref: NCIT:C85237 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1871 {source="MONDO:NORD"}
xref: Orphanet:8 {source="MONDO:equivalentTo"}
xref: SCTID:50749006 {source="MONDO:equivalentTo"}
xref: UMLS:C3266843 {source="MEDGEN:473794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700065 {source="https://orcid.org/0000-0002-4142-7153"} ! trisomy
relationship: disease_arises_from_structure CHR:9606-chrY {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y (Human)
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C85237", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3155" xsd:anyURI

[Term]
id: MONDO:0019340
name: scleroderma
def: "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)." [Orphanet:801]
subset: disease_grouping
subset: gard_rare {source="GARD:18705", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:801"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dermatosclerosis" EXACT [DOID:419]
synonym: "scleroderma" EXACT [MONDO:0002906, MONDO:ambiguous, NCIT:C26746]
synonym: "scleroderma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:419 {source="MONDO:equivalentTo"}
xref: EFO:1001993 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:18705 {source="MONDO:GARD"}
xref: HP:0100324 {source="MONDO:otherHierarchy"}
xref: MedDRA:10039710 {source="Orphanet:801", source="Orphanet:801/e"}
xref: MEDGEN:3770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012594 {source="DOID:419"}
xref: NCIT:C26746 {source="DOID:419", source="MONDO:equivalentTo"}
xref: Orphanet:801 {source="MONDO:equivalentTo"}
xref: SCTID:128457007 {source="DOID:419"}
xref: SCTID:156451000 {source="DOID:419"}
xref: SCTID:156454008 {source="DOID:419"}
xref: SCTID:201440007 {source="DOID:419"}
xref: SCTID:201441006 {source="DOID:419"}
xref: SCTID:267874003 {source="DOID:419"}
xref: SCTID:268049000 {source="DOID:419"}
xref: SCTID:287005009 {source="DOID:419"}
xref: SCTID:89155008 {source="DOID:419"}
xref: UMLS:C0011644 {source="MEDGEN:3770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005554 {source="DOID:419", source="NCIT:C26746"} ! rheumatic disorder
is_a: MONDO:0007179 {source="DOID:419/inferred", source="MONDO:Redundant", source="NCIT:C26746"} ! autoimmune disease
relationship: disease_has_feature HP:0100324 ! Scleroderma
property_value: IAO:0000589 "scleroderma (disease)" xsd:string

[Term]
id: MONDO:0019341
name: obsolete tuberous sclerosis complex
xref: NANDO:1200607 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200826 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1489" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001734

[Term]
id: MONDO:0019342
name: Seckel syndrome
def: "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." [NCIT:C125488]
subset: gard_rare {source="GARD:8562", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1701"}
subset: ordo_disorder {source="Orphanet:808"}
subset: ordo_malformation_syndrome {source="Orphanet:808"}
subset: orphanet_rare {source="Orphanet:808"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bird-headed dwarfism" EXACT [DOID:0050569]
synonym: "Harper's syndrome" EXACT [DOID:0050569]
synonym: "microcephalic primordial dwarfism" RELATED EXCLUDE [DOID:0050569]
synonym: "nanocephalic Dwarfism" EXACT [NCIT:C125488]
synonym: "SCKL" EXACT ABBREVIATION [NCIT:C125488]
synonym: "Seckel-type Dwarfism" EXACT [NCIT:C125488]
synonym: "Virchow-Seckel dwarfism" EXACT [DOID:0050569]
xref: DOID:0050569 {source="MONDO:equivalentTo"}
xref: GARD:8562 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:808/inclusion", source="Orphanet:808/ntbt", source="DOID:0050569", source="Orphanet:808"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537533 {source="Orphanet:808/e", source="Orphanet:808"}
xref: NCIT:C125488 {source="MONDO:equivalentTo"}
xref: NORD:1701 {source="MONDO:NORD"}
xref: OMIMPS:210600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:808 {source="MONDO:equivalentTo", source="DOID:0050569"}
xref: SCTID:57917004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78534"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125488"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0050569", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="Orphanet:808"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:210600"} ! inherited

[Term]
id: MONDO:0019343
name: obsolete mixed connective tissue disease
is_obsolete: true
replaced_by: MONDO:0005854

[Term]
id: MONDO:0019344
name: antisynthetase syndrome
def: "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." [Orphanet:81]
subset: gard_rare {source="GARD:735", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1926", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:81"}
subset: orphanet_rare {source="Orphanet:81"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anti-Jo1 syndrome" EXACT [Orphanet:81]
synonym: "AS syndrome" EXACT [Orphanet:81]
xref: DOID:0080744 {source="MONDO:equivalentTo"}
xref: EFO:1001982 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:735 {source="MONDO:GARD"}
xref: ICD10CM:M35.8 {source="Orphanet:81", source="Orphanet:81/ntbt"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068801 {source="Orphanet:81/e", source="Orphanet:81"}
xref: MEDGEN:388567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537778 {source="Orphanet:81/e", source="MONDO:equivalentTo", source="Orphanet:81"}
xref: NORD:1926 {source="MONDO:NORD"}
xref: Orphanet:81 {source="MONDO:equivalentTo"}
xref: SCTID:445187004 {source="MONDO:equivalentTo"}
xref: UMLS:C2609059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388567"}
is_a: MONDO:0020122 {source="Orphanet:81"} ! acquired idiopathic inflammatory myopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome" xsd:anyURI {source="GARD:0000735"}

[Term]
id: MONDO:0019345
name: shigellosis
def: "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." [Orphanet:810]
subset: gard_rare {source="GARD:4818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:810"}
subset: orphanet_rare {source="Orphanet:810"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bacillary dysentery" EXACT [DOID:12385]
synonym: "flexner's dysentery" RELATED []
synonym: "japanese dysentery" RELATED []
synonym: "Shigella boydii infectious disease" NARROW [DOID:12385]
synonym: "Shigella dysentery" RELATED []
synonym: "Shigella flexneri infectious disease" NARROW [DOID:12385]
synonym: "Shigella gastroenteritis" EXACT [DOID:12385]
synonym: "Shigella sonnei infectious disease" NARROW [DOID:12385]
synonym: "shigellosis" EXACT []
xref: DOID:12385 {source="EFO:0005585", source="MONDO:equivalentTo"}
xref: EFO:0005585 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4818 {source="MONDO:GARD"}
xref: ICD10CM:A03 {source="MONDO:equivalentTo", source="DOID:12385"}
xref: ICD10CM:A03.0 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"}
xref: ICD10CM:A03.1 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"}
xref: ICD10CM:A03.2 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"}
xref: ICD10CM:A03.3 {source="Orphanet:810", source="Orphanet:810/btnt"}
xref: ICD10CM:A03.8 {source="Orphanet:810", source="Orphanet:810/btnt"}
xref: ICD10CM:A03.9 {source="Orphanet:810", source="Orphanet:810/btnt", source="DOID:12385"}
xref: icd11.foundation:2080365623 {source="Orphanet:810", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:004 {source="EFO:0005585", source="DOID:12385"}
xref: ICD9:004.0 {source="DOID:12385"}
xref: ICD9:004.1 {source="DOID:12385"}
xref: ICD9:004.2 {source="DOID:12385"}
xref: ICD9:004.3 {source="DOID:12385"}
xref: ICD9:004.9 {source="DOID:12385"}
xref: MedDRA:10017915 {source="Orphanet:810", source="Orphanet:810/e"}
xref: MedDRA:10054178 {source="Orphanet:810", source="Orphanet:810/e"}
xref: MEDGEN:8513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004405 {source="MONDO:equivalentTo", source="DOID:12385"}
xref: NCIT:C157978 {source="MONDO:equivalentTo"}
xref: Orphanet:810 {source="MONDO:equivalentTo"}
xref: SCTID:111817006 {source="DOID:12385"}
xref: SCTID:154272001 {source="DOID:12385"}
xref: SCTID:186104004 {source="DOID:12385"}
xref: SCTID:186105003 {source="DOID:12385"}
xref: SCTID:186108001 {source="DOID:12385"}
xref: SCTID:187272003 {source="DOID:12385"}
xref: SCTID:266175007 {source="DOID:12385"}
xref: SCTID:34335000 {source="DOID:12385"}
xref: SCTID:36188001 {source="EFO:0005585", source="MONDO:equivalentTo", source="DOID:12385"}
xref: SCTID:55760004 {source="DOID:12385"}
xref: SCTID:66301008 {source="DOID:12385"}
xref: UMLS:C0013371 {source="MEDGEN:8513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:12385"} ! primary bacterial infectious disease
is_a: MONDO:0001517 {source="EFO:0005585", source="MESH:D004405"} ! dysentery
is_a: MONDO:0005113 {source="DOID:12385/inferred", source="EFO:0005585", source="MESH:D004405/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="Orphanet:810"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:620 ! Shigella
intersection_of: disease_has_infectious_agent NCBITaxon:621 ! Shigella boydii
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery
relationship: disease_has_infectious_agent NCBITaxon:620 {source="MONDO:Wikidata"} ! Shigella
relationship: disease_has_location UBERON:0000059 {source="EFO:0000784"} ! large intestine
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4818/shigellosis" xsd:anyURI {source="GARD:0004818"}

[Term]
id: MONDO:0019346
name: sialidosis type 1
def: "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." [Orphanet:812]
subset: gard_rare {source="GARD:7639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:812"}
subset: orphanet_rare {source="Orphanet:812"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cherry red spot myoclonus syndrome" RELATED [GARD:0007639]
synonym: "cherry-red spot-myoclonus syndrome" EXACT [Orphanet:812]
synonym: "lipomucopolysaccharidosis" EXACT [Orphanet:812]
synonym: "myoclonus cherry red spot syndrome" RELATED [GARD:0007639]
synonym: "Normomorphic sialidosis" EXACT [Orphanet:812]
synonym: "normosomatic sialidosis" EXACT []
synonym: "sialidosis type I" RELATED [GARD:0007639]
xref: GARD:7639 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:812/attributed", source="Orphanet:812/ntbt", source="Orphanet:812"}
xref: MEDGEN:44174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200117 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201191 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:256550 {source="Orphanet:812/ntbt", source="Orphanet:812", source="MONDO:includedEntryInOMIM"}
xref: Orphanet:812 {source="MONDO:equivalentTo"}
xref: SCTID:34960006 {source="MONDO:equivalentTo"}
xref: UMLS:C0023806 {source="MEDGEN:44174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017734 {source="Orphanet:812"} ! sialidosis
is_a: MONDO:0031422 {source="OMIM:256550"} ! familial mucolipidosis
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0019347
name: peeling skin syndrome
def: "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." [Orphanet:817]
subset: disease_grouping
subset: gard_rare {source="GARD:7347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1562"}
subset: ordo_group_of_disorders {source="Orphanet:817"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deciduous skin" EXACT [Orphanet:817]
synonym: "familial continuous skin peeling" RELATED [GARD:0007347]
synonym: "familial continuous skin peeling syndrome" EXACT [Orphanet:817]
synonym: "idiopathic deciduous skin" EXACT [Orphanet:817]
synonym: "keratosis exfoliativa congenita" EXACT [Orphanet:817]
synonym: "peeling skin disease" EXACT [Orphanet:817]
synonym: "PSS" EXACT ABBREVIATION [Orphanet:817]
synonym: "skin peeling syndrome" RELATED [GARD:0007347]
xref: DOID:0060283 {source="MONDO:equivalentTo"}
xref: GARD:7347 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:817/attributed", source="Orphanet:817/ntbt", source="Orphanet:817", source="DOID:0060283"}
xref: icd11.foundation:523640904 {source="MONDO:equivalentTo", source="Orphanet:817", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NORD:1562 {source="MONDO:NORD"}
xref: OMIMPS:270300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:263543 {source="DOID:0060283"}
xref: Orphanet:817 {source="MONDO:equivalentTo"}
xref: SCTID:239065004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:270300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019348
name: obsolete Ehlers-Danlos syndrome with periventricular heterotopia
def: "OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." [Orphanet:82004]
comment: Obsolete in Orphanet
synonym: "EDS with periventricular heterotopia" EXACT [Orphanet:82004]
xref: ICD10CM:Q79.6 {source="Orphanet:82004", source="Orphanet:82004/attributed", source="Orphanet:82004/ntbt"}
xref: OMIM:300537 {source="Orphanet:82004", source="Orphanet:82004/e", source="MONDO:obsoleteEquivalentObsolete"}
xref: Orphanet:82004 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:720857006 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0020341

[Term]
id: MONDO:0019349
name: Sotos syndrome
def: "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." [Orphanet:821]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10091", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1727", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:821"}
subset: orphanet_rare {source="Orphanet:821"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral gigantism" EXACT [DOID:14748, OMIM:117550, Orphanet:821]
synonym: "cerebral gigantism syndrome" EXACT [NCIT:C75019]
synonym: "chromosome 5q35 deletion syndrome" EXACT [OMIM:117550]
synonym: "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development" RELATED [GARD:0010091]
synonym: "NSD1 Sotos syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Sotos syndrome" EXACT CLINGEN_LABEL []
synonym: "Sotos syndrome 1" EXACT DEPRECATED [MONDO:Lexical, OMIM:117550]
synonym: "Sotos syndrome caused by mutation in NSD1" EXACT [MONDO:design_pattern]
synonym: "Sotos syndrome type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:117550]
synonym: "Sotos' syndrome" EXACT [NCIT:C75019]
synonym: "SOTOS1" RELATED DEPRECATED [MONDO:Lexical, OMIM:117550]
xref: DECIPHER:17 {source="MONDO:equivalentTo"}
xref: DOID:0112103 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:14748 {source="MONDO:equivalentTo"}
xref: GARD:10091 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:821/inclusion", source="DOID:14748", source="Orphanet:821", source="Orphanet:821/ntbt"}
xref: MedDRA:10064387 {source="Orphanet:821", source="Orphanet:821/e"}
xref: MEDGEN:61232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058495 {source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo", source="Orphanet:821/e"}
xref: NANDO:1200679 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200953 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75019 {source="DOID:14748", source="MONDO:equivalentTo"}
xref: NORD:1727 {source="MONDO:NORD"}
xref: OMIM:117550 {source="MONDO:equivalentTo"}
xref: OMIMPS:117550 {source="MONDO:equivalentObsolete", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:821 {source="OMIM:117550", source="DOID:14748", source="MONDO:equivalentTo"}
xref: SCTID:75968004 {source="DOID:14748", source="MONDO:equivalentTo"}
xref: UMLS:C0175695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61232"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75019", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:821"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016904 {source="Orphanet:821"} ! partial deletion of the long arm of chromosome 5
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0005071 {source="OMIM:117550", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0006025 {source="DOID:14748", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive disease
relationship: excluded_subClassOf MONDO:0019716 {source="Orphanet:821", source="https://orcid.org/0000-0001-5208-3432"} ! overgrowth syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:117550"} ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14234 {source="MONDO:mim2gene_medgen"} ! NSD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6321" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019350
name: hereditary spherocytosis
def: "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." [Orphanet:822]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:777"}
subset: ordo_disorder {source="Orphanet:822"}
subset: orphanet_rare {source="Orphanet:822"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital spherocytic hemolytic anaemia" EXACT OMO:0003005 []
synonym: "congenital spherocytic hemolytic anemia" EXACT [DOID:12971]
synonym: "congenital spherocytosis" RELATED [GARD:0006639]
synonym: "hereditary spherocytosis" EXACT CLINGEN_LABEL []
synonym: "Minkowski Chauffard syndrome" EXACT [DOID:12971]
synonym: "Minkowski-Chauffard disease" EXACT [Orphanet:822]
synonym: "spherocytic anaemia" EXACT OMO:0003005 []
synonym: "spherocytic anemia" EXACT [DOID:12971]
xref: DOID:12971 {source="MONDO:equivalentTo"}
xref: GARD:6639 {source="MONDO:GARD"}
xref: ICD10CM:D58.0 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/specific", source="Orphanet:822/e", source="DOID:12971"}
xref: ICD9:282.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12971"}
xref: MedDRA:10019904 {source="Orphanet:822", source="Orphanet:822/e"}
xref: MEDGEN:52450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536356 {source="Orphanet:822", source="Orphanet:822/e"}
xref: MESH:D013103 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/e", source="DOID:12971"}
xref: NANDO:2200622 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C97074 {source="MONDO:equivalentTo", source="DOID:12971"}
xref: NORD:777 {source="MONDO:NORD"}
xref: Orphanet:822 {source="MONDO:equivalentTo", source="DOID:12971"}
xref: SCTID:154795009 {source="DOID:12971"}
xref: SCTID:55995005 {source="MONDO:equivalentTo", source="DOID:12971"}
xref: UMLS:C0037889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52450"}
is_a: MONDO:0003664 ! hemolytic anemia
is_a: MONDO:0003689 {source="DOID:12971", source="MESH:D013103", source="NCIT:C97074/inferred"} ! familial hemolytic anemia
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis" xsd:anyURI {source="GARD:0006639"}

[Term]
id: MONDO:0019351
name: isolated spina bifida
def: "A spina bifida (disease) that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: disease_grouping
subset: gard_rare {source="GARD:7673", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:823"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft spine" RELATED [GARD:0007673]
synonym: "isolated spina bifida (disease)" EXACT []
synonym: "nonsyndromic spina bifida (disease)" EXACT [MONDO:patterns/isolated]
synonym: "open spine" RELATED [GARD:0007673]
xref: GARD:7673 {source="MONDO:GARD"}
xref: ICD10CM:Q05.0 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.1 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.2 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.3 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.4 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.5 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.6 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.7 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.8 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: ICD10CM:Q05.9 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"}
xref: icd11.foundation:2036217905 {source="Orphanet:823", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10041524 {source="Orphanet:823", source="Orphanet:823/e"}
xref: MESH:D016135 {source="Orphanet:823", source="Orphanet:823/e"}
xref: Orphanet:823 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0008449 ! spina bifida
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0019352
name: obsolete sporotrichosis
is_obsolete: true
replaced_by: MONDO:0005968

[Term]
id: MONDO:0019353
name: Stargardt disease
def: "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." [Orphanet:827]
subset: gard_rare {source="GARD:181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:827"}
subset: orphanet_rare {source="Orphanet:827"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fundus flavimaculatus" EXACT [Orphanet:827]
synonym: "juvenile onset macular degeneration" RELATED [GARD:0000181]
synonym: "Stargardt 1" EXACT [Orphanet:827]
synonym: "Stargardt disease 1" NARROW [DOID:0050817]
synonym: "Stargardt macular dystrophy" RELATED [GARD:0000181]
xref: DOID:0050817 {source="MONDO:equivalentTo"}
xref: GARD:181 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:827/inclusion", source="Orphanet:827", source="Orphanet:827/ntbt"}
xref: MedDRA:10062766 {source="Orphanet:827", source="Orphanet:827/e"}
xref: MEDGEN:75734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000080362 {source="MONDO:equivalentTo"}
xref: NANDO:1200933 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85078 {source="MONDO:equivalentTo"}
xref: Orphanet:827 {source="MONDO:equivalentTo"}
xref: SCTID:47673003 {source="MONDO:equivalentTo"}
xref: UMLS:C0271093 {source="MEDGEN:75734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003004 {source="DOID:0050817/inferred", source="MONDO:Redundant", source="NCIT:C85078"} ! macular degeneration
is_a: MONDO:0005150 {source="DOID:0050817"} ! age-related macular degeneration
is_a: MONDO:0016420 {source="Orphanet:827"} ! familial flecked retinopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/181/stargardt-disease" xsd:anyURI {source="GARD:0000181"}

[Term]
id: MONDO:0019354
name: Stickler syndrome
def: "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)." [Orphanet:828]
comment: Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10782", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1739", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:828"}
subset: orphanet_rare {source="Orphanet:828"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary progressive arthroophthalmopathy" EXACT [Orphanet:828]
synonym: "Stickler syndrome" EXACT CLINGEN_LABEL []
xref: DOID:0080046 {source="MONDO:equivalentTo"}
xref: GARD:10782 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:828/attributed", source="Orphanet:828/ntbt", source="Orphanet:828"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10063402 {source="Orphanet:828/e", source="Orphanet:828"}
xref: MEDGEN:120521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537492 {source="Orphanet:828/e", source="Orphanet:828"}
xref: NCIT:C74984 {source="MONDO:equivalentTo"}
xref: NORD:1739 {source="MONDO:NORD"}
xref: OMIMPS:108300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:828 {source="MONDO:equivalentTo"}
xref: SCTID:78675000 {source="MONDO:equivalentTo"}
xref: UMLS:C0265253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120521"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74984"} ! syndromic disease
is_a: MONDO:0016761 {source="Orphanet:828"} ! spondyloepiphyseal dysplasia
is_a: MONDO:0020248 {source="Orphanet:828", source="https://orcid.org/0000-0001-5208-3432"} ! vitreoretinal degeneration
relationship: disease_has_feature MONDO:0004603 ! collagenopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:108300"} ! inherited

[Term]
id: MONDO:0019355
name: adult-onset Still disease
def: "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." [Orphanet:829]
subset: gard_rare {source="GARD:436", source="MONDO:GARD"}
subset: nord_rare {source="NORD:737", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:829"}
subset: orphanet_rare {source="Orphanet:829"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult onset Still's disease" EXACT [DOID:14256]
synonym: "adult Still's disease" RELATED [GARD:0000436]
synonym: "adult-onset Still disease" EXACT [DOID:14256]
synonym: "Adult-Onset Still's Disease" EXACT [NORD:737]
synonym: "adult-onset Still's disease" EXACT [MONDO:0005637]
synonym: "AOSD" EXACT ABBREVIATION [Orphanet:829]
synonym: "Still's disease adult onset" RELATED [GARD:0000436]
synonym: "Wissler-Fanconi syndrome" EXACT [Orphanet:829]
xref: DOID:14256 {source="MONDO:equivalentTo", source="EFO:0007135"}
xref: EFO:0007135 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:436 {source="MONDO:GARD"}
xref: ICD10CM:M06.1 {source="Orphanet:829/e", source="DOID:14256", source="Orphanet:829"}
xref: icd11.foundation:549009522 {source="MONDO:equivalentTo", source="Orphanet:829"}
xref: ICD9:714.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10058493 {source="Orphanet:829/e", source="Orphanet:829"}
xref: MedDRA:10064056 {source="Orphanet:829/e", source="Orphanet:829"}
xref: MEDGEN:39007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014924 {source="Orphanet:829/e", source="MONDO:relatedTo", source="Orphanet:829"}
xref: MESH:D016706 {source="Orphanet:829/e", source="MONDO:equivalentTo", source="DOID:14256", source="Orphanet:829", source="EFO:0007135"}
xref: NANDO:1200282 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:737 {source="MONDO:NORD"}
xref: Orphanet:829 {source="MONDO:equivalentTo", source="GARD:0000436"}
xref: SCTID:201449008 {source="DOID:14256"}
xref: SCTID:201815006 {source="DOID:14256"}
xref: SCTID:239920006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:14256"}
xref: SCTID:68190001 {source="MONDO:equivalentTo"}
xref: UMLS:C0085253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39007"}
is_a: MONDO:0005578 {source="DOID:14256", source="EFO:0007135", source="MESH:D016706/inferred"} ! arthritic joint disease
is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome
relationship: disease_has_feature MONDO:0002258 {source="MONDO:Wikidata"} ! pharyngitis
relationship: disease_has_feature MONDO:0015540 {source="MONDO:Wikidata"} ! hemophagocytic syndrome
relationship: excluded_subClassOf MONDO:0005554 {source="Orphanet:829", source="https://orcid.org/0000-0001-5208-3432"} ! rheumatic disorder
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:829", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease" xsd:anyURI {source="GARD:0000436"}

[Term]
id: MONDO:0019356
name: urogenital tract malformation
subset: disease_grouping
subset: gard_rare {source="GARD:19029", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:83001"}
subset: rare
xref: GARD:19029 {source="MONDO:GARD"}
xref: ICD10CM:Q50-Q56 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:Q60-Q64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:83001 {source="MONDO:equivalentTo"}
is_a: MONDO:0019755 {source="Orphanet:83001"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare

[Term]
id: MONDO:0019357
name: congenital narrowing of cervical spinal canal
def: "Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (sagittal diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances." [Orphanet:831]
subset: gard_rare {source="GARD:18706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:831"}
subset: orphanet_rare {source="Orphanet:831"}
subset: rare
synonym: "congenital cervical spinal stenosis" RELATED [Orphanet:831]
synonym: "congenital stenosis of the cervical spine" EXACT [Orphanet:831]
xref: GARD:18706 {source="MONDO:GARD"}
xref: ICD10CM:Q06.8 {source="Orphanet:831/ntbt", source="Orphanet:831"}
xref: MEDGEN:1653635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:831 {source="MONDO:equivalentTo"}
xref: UMLS:C4749275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1653635"}
is_a: MONDO:0002602 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0019358
name: encephalopathy due to sulfite oxidase deficiency
def: "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." [Orphanet:833]
subset: gard_rare {source="GARD:16549", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:833"}
subset: orphanet_rare {source="Orphanet:833"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16549 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:833/inclusion", source="Orphanet:833/ntbt", source="Orphanet:833"}
xref: MEDGEN:894927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:833 {source="MONDO:equivalentTo"}
xref: SCTID:715980003 {source="MONDO:equivalentTo"}
xref: UMLS:C4275019 {source="MEDGEN:894927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001176 ! lens disorder
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0015327 {source="MONDO:Redundant", source="Orphanet:833"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019222 {source="Orphanet:833"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
relationship: disease_has_basis_in_disruption_of GO:0008482 ! sulfite oxidase activity

[Term]
id: MONDO:0019359
name: Rocky mountain spotted fever
def: "Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline)." [https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever]
subset: gard_rare {source="GARD:7585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1674"}
subset: ordo_disorder {source="Orphanet:83311"}
subset: orphanet_rare {source="Orphanet:83311"}
subset: rare
synonym: "Brazilian spotted" RELATED [DOID:0050052]
synonym: "Choix" RELATED [DOID:0050052]
synonym: "exanthematic typhus of sao Paulo" RELATED [DOID:0050052]
synonym: "Fiebre maculosa" RELATED [DOID:0050052]
synonym: "Fiebre manchada" RELATED [DOID:0050052]
synonym: "RMSF" RELATED ABBREVIATION [GARD:0007585]
synonym: "sao Paulo typhus" RELATED [DOID:0050052]
synonym: "So Paulo fever" RELATED [DOID:0050052]
synonym: "Tick typhus" RELATED [DOID:0050052]
synonym: "Tobia fever" RELATED [DOID:0050052]
xref: DOID:0050052 {source="MONDO:equivalentTo"}
xref: GARD:7585 {source="MONDO:GARD"}
xref: ICD10CM:A77.0 {source="Orphanet:83311", source="Orphanet:83311/e"}
xref: icd11.foundation:215936800 {source="Orphanet:83311", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10039207 {source="Orphanet:83311", source="Orphanet:83311/e"}
xref: MEDGEN:48500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012373 {source="Orphanet:83311", source="MONDO:equivalentTo", source="Orphanet:83311/e"}
xref: NCIT:C128410 {source="MONDO:equivalentTo"}
xref: NORD:1674 {source="MONDO:NORD"}
xref: Orphanet:83311 {source="MONDO:equivalentTo"}
xref: SCTID:186772009 {source="MONDO:equivalentTo"}
xref: UMLS:C0035793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48500"}
is_a: MONDO:0001195 {source="DOID:0050052", source="Orphanet:83311"} ! spotted fever
is_a: MONDO:0006956 {source="MESH:D012373", source="MONDO:Redundant", source="NCIT:C128410", source="Orphanet:83311/inferred"} ! Rickettsiosis
relationship: disease_has_infectious_agent NCBITaxon:783 ! Rickettsia rickettsii
relationship: transmitted_by NCBITaxon:34620 ! Dermacentor andersoni
relationship: transmitted_by NCBITaxon:34621 ! Dermacentor variabilis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever" xsd:anyURI {source="GARD:0007585"}

[Term]
id: MONDO:0019360
name: rickettsialpox
subset: gard_rare {source="GARD:19030", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83312"}
subset: orphanet_rare {source="Orphanet:83312"}
subset: rare
synonym: "Rickettsia akari spotted fever" EXACT [DOID:11103]
synonym: "vesicular rickettsiosis" EXACT [DOID:11103]
xref: DOID:11103 {source="MONDO:equivalentTo"}
xref: GARD:19030 {source="MONDO:GARD"}
xref: ICD10CM:A79.1 {source="Orphanet:83312", source="Orphanet:83312/e", source="DOID:11103"}
xref: icd11.foundation:1005140361 {source="Orphanet:83312", source="MONDO:equivalentTo"}
xref: ICD9:083.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11103"}
xref: MedDRA:10039137 {source="Orphanet:83312", source="Orphanet:83312/e"}
xref: MEDGEN:19803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012288 {source="MONDO:relatedTo", source="DOID:11103"}
xref: Orphanet:83312 {source="MONDO:equivalentTo"}
xref: SCTID:75096007 {source="MONDO:equivalentTo", source="DOID:11103"}
xref: UMLS:C0035597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19803"}
is_a: MONDO:0001195 {source="DOID:11103", source="MONDO:Redundant", source="Orphanet:83312"} ! spotted fever
intersection_of: MONDO:0001195 ! spotted fever
intersection_of: disease_has_infectious_agent NCBITaxon:786 ! Rickettsia akari

[Term]
id: MONDO:0019361
name: obsolete boutonneuse fever
is_obsolete: true
replaced_by: MONDO:0005677

[Term]
id: MONDO:0019362
name: epidemic louse-borne typhus
def: "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." [NCIT:C84689]
subset: gard_rare {source="GARD:19032", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83314"}
subset: orphanet_rare {source="Orphanet:83314"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidemic louse-borne typhus" EXACT [NCIT:C84689]
synonym: "epidemic typhus" EXACT [NCIT:C84689]
synonym: "epidemic typhus fever" EXACT [NCIT:C84689]
synonym: "sylvatic typhus" EXACT [DOID:0050480]
synonym: "typhus" BROAD [Wikipedia:Typhus]
xref: DOID:0050480 {source="MONDO:equivalentTo"}
xref: GARD:19032 {source="MONDO:GARD"}
xref: ICD10CM:A75.0 {source="Orphanet:83314", source="Orphanet:83314/e"}
xref: icd11.foundation:295798687 {source="MONDO:equivalentTo", source="Orphanet:83314", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10014979 {source="Orphanet:83314", source="Orphanet:83314/e"}
xref: MEDGEN:21744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014438 {source="Orphanet:83314", source="Orphanet:83314/e"}
xref: NCIT:C84689 {source="MONDO:equivalentTo"}
xref: Orphanet:83314 {source="MONDO:equivalentTo"}
xref: UMLS:C0041473 {source="MEDGEN:21744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001246 {source="DOID:0050480", source="MONDO:Redundant", source="Orphanet:83314"} ! typhus
is_a: MONDO:0005113 {source="DOID:0050480/inferred", source="MONDO:Redundant", source="NCIT:C84689"} ! bacterial infectious disease
intersection_of: MONDO:0001246 ! typhus
intersection_of: disease_has_infectious_agent NCBITaxon:782 ! Rickettsia prowazekii
intersection_of: transmitted_by NCBITaxon:121224 ! Pediculus humanus corporis
relationship: disease_has_infectious_agent NCBITaxon:782 {source="MONDO:Wikidata"} ! Rickettsia prowazekii
relationship: transmitted_by NCBITaxon:121224 ! Pediculus humanus corporis

[Term]
id: MONDO:0019363
name: obsolete murine typhus
is_obsolete: true
replaced_by: MONDO:0000330

[Term]
id: MONDO:0019364
name: pseudotyphus of California
def: "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise." [Orphanet:83316]
subset: gard_rare {source="GARD:19034", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83316"}
subset: orphanet_rare {source="Orphanet:83316"}
subset: rare
xref: GARD:19034 {source="MONDO:GARD"}
xref: ICD10CM:A79.8 {source="Orphanet:83316", source="Orphanet:83316/ntbt"}
xref: MEDGEN:1643522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:83316 {source="MONDO:equivalentTo"}
xref: SCTID:764104003 {source="MONDO:equivalentTo"}
xref: UMLS:C4706680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643522"}
is_a: MONDO:0001195 {source="Orphanet:83316"} ! spotted fever
intersection_of: MONDO:0001195 ! spotted fever
intersection_of: disease_has_infectious_agent NCBITaxon:42862 ! Rickettsia felis
relationship: disease_has_infectious_agent NCBITaxon:42862 ! Rickettsia felis

[Term]
id: MONDO:0019365
name: scrub typhus
def: "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious." [Orphanet:83317]
subset: gard_rare {source="GARD:19035", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83317"}
subset: orphanet_rare {source="Orphanet:83317"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chigger-borne rickettsiosis" RELATED [DOID:13371]
synonym: "chigger-borne typhus" RELATED [DOID:13371]
synonym: "Japanese river fever" EXACT [DOID:13371]
synonym: "Kedani fever" EXACT [DOID:13371]
synonym: "Mite-borne rickettsiosis" RELATED [DOID:13371]
synonym: "Mite-borne typhus" RELATED [DOID:13371]
synonym: "scrub (mite-borne) typhus" RELATED [DOID:13371]
synonym: "scrub mite-borne typhus" EXACT [DOID:13371]
synonym: "tropical typhus" RELATED [DOID:13371]
synonym: "tsutsugamushi" EXACT [DOID:13371]
synonym: "tsutsugamushi disease" EXACT [DOID:13371, Orphanet:83317]
synonym: "tsutsugamushi fever" EXACT [DOID:13371, Orphanet:83317]
synonym: "typhus fever due to Rickettsia tsutsugamushi" RELATED [DOID:13371]
xref: DOID:13371 {source="MONDO:equivalentTo", source="EFO:0007480"}
xref: EFO:0007480 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19035 {source="MONDO:GARD"}
xref: ICD10CM:A75.3 {source="Orphanet:83317/e", source="DOID:13371", source="Orphanet:83317"}
xref: icd11.foundation:1695340384 {source="MONDO:equivalentTo", source="Orphanet:83317", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:081.2 {source="MONDO:equivalentTo", source="DOID:13371", source="MONDO:i2s"}
xref: MedDRA:10039766 {source="Orphanet:83317/e", source="Orphanet:83317"}
xref: MEDGEN:48591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012612 {source="Orphanet:83317/e", source="MONDO:equivalentTo", source="DOID:13371", source="EFO:0007480", source="Orphanet:83317"}
xref: Orphanet:83317 {source="MONDO:equivalentTo"}
xref: SCTID:186768005 {source="DOID:13371"}
xref: SCTID:240620004 {source="DOID:13371"}
xref: SCTID:240621000 {source="DOID:13371"}
xref: SCTID:240622007 {source="DOID:13371"}
xref: SCTID:271425001 {source="MONDO:equivalentTo", source="DOID:13371"}
xref: SCTID:73911003 {source="DOID:13371"}
xref: UMLS:C0036472 {source="MEDGEN:48591", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001246 {source="DOID:13371", source="MONDO:Redundant"} ! typhus
is_a: MONDO:0005113 {source="MONDO:Redundant", source="Orphanet:83317"} ! bacterial infectious disease
is_a: MONDO:0600003 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! bacterial hemorrhagic fever
intersection_of: MONDO:0001246 ! typhus
intersection_of: disease_has_infectious_agent NCBITaxon:784 ! Orientia tsutsugamushi
relationship: excluded_subClassOf MONDO:0005619 {source="EFO:0007480", source="https://github.com/EBISPOT/efo/issues/171", source="https://orcid.org/0000-0001-5208-3432"} ! typhoid fever
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
relationship: transmitted_by NCBITaxon:299467 ! Leptotrombidium deliense

[Term]
id: MONDO:0019366
name: free sialic acid storage disease
def: "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)." [Orphanet:834]
subset: gard_rare {source="GARD:10870", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:834"}
subset: orphanet_rare {source="Orphanet:834"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "free sialic acid storage disease" EXACT CLINGEN_LABEL []
xref: GARD:10870 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:834/attributed", source="Orphanet:834/ntbt", source="Orphanet:834"}
xref: MedDRA:10067529 {source="Orphanet:834", source="Orphanet:834/e"}
xref: MedDRA:10067531 {source="Orphanet:834", source="Orphanet:834/e"}
xref: MEDGEN:419512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538523 {source="Orphanet:834", source="MONDO:equivalentTo", source="Orphanet:834/e"}
xref: NANDO:1200146 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200572 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:834 {source="MONDO:equivalentTo"}
xref: UMLS:C2931872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419512"}
is_a: MONDO:0019246 {source="Orphanet:834", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of lysosomal amino acid transport

[Term]
id: MONDO:0019367
name: regional odontodysplasia
def: "Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues." [Orphanet:83450]
subset: gard_rare {source="GARD:19036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83450"}
subset: orphanet_rare {source="Orphanet:83450"}
subset: rare
synonym: "ghost teeth" EXACT [Orphanet:83450]
xref: GARD:19036 {source="MONDO:GARD"}
xref: ICD10CM:K00.4 {source="Orphanet:83450", source="Orphanet:83450/ntbt"}
xref: MEDGEN:104891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018126 {source="MONDO:equivalentTo"}
xref: Orphanet:83450 {source="MONDO:equivalentTo"}
xref: SCTID:66063001 {source="MONDO:equivalentTo"}
xref: UMLS:C0206554 {source="MEDGEN:104891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002635 {source="https://github.com/monarch-initiative/mondo/issues/3174", source="https://orcid.org/0000-0002-4142-7153"} ! periodontal disorder

[Term]
id: MONDO:0019368
name: florid cemento-osseous dysplasia
def: "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw." [Orphanet:83451]
subset: gard_rare {source="GARD:10173", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83451"}
subset: orphanet_rare {source="Orphanet:83451"}
subset: rare
synonym: "florid osseous dysplasia" EXACT [Orphanet:83451]
synonym: "focal cemento-osseous dysplasia" EXACT [Orphanet:83451]
synonym: "Gigantiform cementoma" RELATED [GARD:0010173]
xref: GARD:10173 {source="MONDO:GARD"}
xref: ICD10CM:D16.4 {source="Orphanet:83451", source="Orphanet:83451/ntbt"}
xref: ICD10CM:D16.5 {source="Orphanet:83451", source="MONDO:relatedTo", source="Orphanet:83451/ntbt"}
xref: ICDO:9275/0 {source="NCIT:C8381"}
xref: MEDGEN:107519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537063 {source="Orphanet:83451", source="MONDO:equivalentTo", source="Orphanet:83451/e"}
xref: NCIT:C8381 {source="MONDO:equivalentTo"}
xref: Orphanet:83451 {source="MONDO:equivalentTo"}
xref: SCTID:715634002 {source="MONDO:equivalentTo"}
xref: UMLS:C0555197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107519"}
is_a: MONDO:0006858 {source="GARD:0010173", source="https://github.com/monarch-initiative/mondo/issues/3063"} ! mouth disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia" xsd:anyURI {source="GARD:0010173"}

[Term]
id: MONDO:0019369
name: complex regional pain syndrome
def: "Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." [Orphanet:83452]
subset: gard_rare {source="GARD:4647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1652"}
subset: ordo_disorder {source="Orphanet:83452"}
subset: orphanet_rare {source="Orphanet:83452"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Complex regional pain syndromes" EXACT [DOID:3223]
synonym: "CRPS" RELATED ABBREVIATION [GARD:0004647]
synonym: "reflex sympathetic dystrophy" RELATED [GARD:0004647]
xref: DOID:3223 {source="MONDO:equivalentTo"}
xref: EFO:1001998 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4647 {source="MONDO:GARD"}
xref: ICD10CM:G56.4 {source="Orphanet:83452/btnt", source="Orphanet:83452"}
xref: ICD10CM:M89.0 {source="Orphanet:83452/btnt", source="Orphanet:83452"}
xref: icd11.foundation:1834504950 {source="Orphanet:83452", source="MONDO:equivalentTo"}
xref: MedDRA:10064332 {source="Orphanet:83452", source="Orphanet:83452/e"}
xref: MEDGEN:96846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020918 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="Orphanet:83452/e"}
xref: NORD:1652 {source="MONDO:NORD"}
xref: Orphanet:83452 {source="MONDO:equivalentTo", source="GARD:0004647"}
xref: SCTID:128200000 {source="DOID:3223", source="MONDO:equivalentTo"}
xref: UMLS:C0458219 {source="MONDO:equivalentTo", source="MEDGEN:96846", source="MONDO:MEDGEN"}
is_a: MONDO:0024317 {source="https://orcid.org/0000-0002-6601-2165"} ! chronic pain syndrome

[Term]
id: MONDO:0019370
name: vulvovaginal gingival syndrome
subset: gard_rare {source="GARD:19037", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83453"}
subset: orphanet_rare {source="Orphanet:83453"}
subset: rare
xref: GARD:19037 {source="MONDO:GARD"}
xref: ICD10CM:L43.8 {source="Orphanet:83453", source="Orphanet:83453/ntbt"}
xref: MEDGEN:848586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:83453 {source="MONDO:equivalentTo"}
xref: SCTID:707250009 {source="MONDO:equivalentTo"}
xref: UMLS:C3873472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:848586"}
is_a: MONDO:0002263 {source="MONDO:0015859-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! female reproductive system disorder

[Term]
id: MONDO:0019371
name: narcolepsy without cataplexy
def: "A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." [https://orcid.org/0000-0001-5208-3432, Orphanet:83465]
comment: This term is also known as narcolepsy type 2 and is different from MONDO:0011607 narcolepsy 2, susceptibility to.
subset: gard_rare {source="GARD:19038", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83465"}
subset: orphanet_rare {source="Orphanet:83465"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "narcolepsy type 2" EXACT [https://orcid.org/0000-0001-9310-0163, https://www.ninds.nih.gov/health-information/disorders/narcolepsy, Orphanet:83465]
xref: EFO:0005855 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19038 {source="MONDO:GARD"}
xref: ICD10CM:G47.4 {source="Orphanet:83465/ntbt", source="Orphanet:83465", source="MONDO:directSiblingOf"}
xref: ICD10CM:G47.419 {source="MONDO:equivalentTo"}
xref: icd11.foundation:1494673323 {source="Orphanet:83465", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:347.00 {source="MONDO:equivalentTo", source="EFO:0005855"}
xref: MEDGEN:781102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:83465 {source="MONDO:equivalentTo"}
xref: SCTID:91521000119104 {source="MONDO:equivalentTo", source="EFO:0005855"}
xref: UMLS:C1456240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:781102"}
is_a: MONDO:0003406 {source="EFO:0005855", source="ICD10CM:G47.419", source="MONDO:Redundant", source="Orphanet:83465"} ! sleep-wake disorder
is_a: MONDO:0021107 {source="https://orcid.org/0000-0001-5208-3432"} ! narcolepsy
relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI

[Term]
id: MONDO:0019372
name: solitary bone cyst
def: "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." [Orphanet:83468]
comment: Editor note: we follow ORDO and classify as neoplasm but neoplastic nature not defined in NCIT
subset: gard_rare {source="GARD:19039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83468"}
subset: orphanet_rare {source="Orphanet:83468"}
subset: rare
synonym: "bone cyst" EXACT [NCIT:C2904]
synonym: "cyst of bone" EXACT [NCIT:C2904]
synonym: "cyst of the bone" EXACT [NCIT:C2904]
synonym: "simple bone cyst" EXACT [NCIT:C2904]
synonym: "solitary cyst" EXACT [NCIT:C2904]
synonym: "unicameral bone cyst" EXACT [Orphanet:83468]
xref: GARD:19039 {source="MONDO:GARD"}
xref: ICD10CM:M85.4 {source="MONDO:equivalentTo", source="Orphanet:83468", source="Orphanet:83468/e"}
xref: icd11.foundation:987501456 {source="MONDO:equivalentTo", source="Orphanet:83468"}
xref: ICD9:733.21 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001845 {source="MONDO:equivalentTo"}
xref: NCIT:C2904 {source="MONDO:equivalentTo"}
xref: Orphanet:83468 {source="MONDO:equivalentTo"}
xref: SCTID:203467005 {source="MONDO:equivalentTo"}
xref: UMLS:C0005937 {source="MONDO:equivalentTo", source="MEDGEN:2696", source="MONDO:MEDGEN"}
is_a: MONDO:0019060 {source="Orphanet:83468"} ! bone neoplasm

[Term]
id: MONDO:0019373
name: desmoplastic small round cell tumor
def: "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases." [Orphanet:83469]
subset: gard_rare {source="GARD:6265", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83469"}
subset: orphanet_rare {source="Orphanet:83469"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Desmoplas. small round cell tumor" EXACT [NCIT:C8300]
synonym: "Desmoplas. small round cell tumour" EXACT OMO:0003005 []
synonym: "Desmoplastic small round cell tumor" EXACT [NCIT:C8300]
synonym: "desmoplastic small round cell tumor" EXACT [NCIT:C8300]
synonym: "Desmoplastic small round cell tumour" EXACT OMO:0003005 []
synonym: "Desmoplastic small round-cell neoplasm" EXACT [NCIT:C8300]
synonym: "Desmoplastic small round-cell tumor" EXACT [GARD:0006265, NCIT:C8300]
synonym: "Desmoplastic small round-cell tumour" EXACT OMO:0003005 []
synonym: "desmoplastic small-round-cell tumor" RELATED [ONCOTREE:DSRCT]
synonym: "desmoplastic small-round-cell tumour" RELATED OMO:0003005 []
synonym: "DSRCT" EXACT ABBREVIATION [NCIT:C8300, Orphanet:83469]
synonym: "Polyphenotypic small round cell tumor" EXACT [NCIT:C8300]
synonym: "Polyphenotypic small round cell tumour" EXACT OMO:0003005 []
xref: DOID:6785 {source="MONDO:equivalentTo", source="EFO:1000895", source="MONDO:obsolete"}
xref: EFO:1000895 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6265 {source="MONDO:GARD"}
xref: HGNC:12796 {source="GARD:0006265"}
xref: ICD10CM:C48.2 {source="Orphanet:83469", source="Orphanet:83469/ntbt"}
xref: ICDO:8806/3 {source="NCIT:C8300"}
xref: MedDRA:10064581 {source="Orphanet:83469", source="Orphanet:83469/e"}
xref: MedDRA:10064587 {source="EFO:1000895"}
xref: MEDGEN:83833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058405 {source="MONDO:equivalentTo", source="EFO:1000895", source="Orphanet:83469", source="Orphanet:83469/e"}
xref: NANDO:2200059 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8300 {source="MONDO:equivalentTo", source="EFO:1000895"}
xref: ONCOTREE:DSRCT {source="MONDO:equivalentTo"}
xref: Orphanet:83469 {source="MONDO:equivalentTo"}
xref: SCTID:128735004 {source="EFO:1000895"}
xref: UMLS:C0281508 {source="MONDO:equivalentTo", source="MEDGEN:83833", source="MONDO:MEDGEN"}
is_a: MONDO:0006974 {source="NCIT:C8300"} ! small cell sarcoma
is_a: MONDO:0018078 {source="NCIT:C8300", source="Orphanet:83469"} ! soft tissue sarcoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor" xsd:anyURI {source="GARD:0006265"}

[Term]
id: MONDO:0019374
name: CAMOS syndrome
def: "CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." [Orphanet:83472]
subset: gard_rare {source="GARD:9977", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:83472"}
subset: ordo_malformation_syndrome {source="Orphanet:83472"}
subset: orphanet_rare {source="Orphanet:83472"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAMOS" RELATED ABBREVIATION [GARD:0009977]
synonym: "cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities" RELATED [GARD:0009977]
synonym: "cerebellar ataxia with mental retardation optic atrophy and skin abnormalities" RELATED DEPRECATED [GARD:0009977]
synonym: "cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome" EXACT [Orphanet:83472]
synonym: "SCAR5" EXACT ABBREVIATION [Orphanet:83472]
synonym: "spinocerebellar ataxia autosomal recessive 5" RELATED [GARD:0009977]
xref: GARD:9977 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:83472", source="Orphanet:83472/attributed", source="Orphanet:83472/ntbt"}
xref: MEDGEN:1387501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606937 {source="Orphanet:83472", source="MONDO:equivalentObsolete", source="Orphanet:83472/e"}
xref: Orphanet:83472 {source="MONDO:equivalentTo"}
xref: SCTID:726031001 {source="MONDO:equivalentTo"}
xref: UMLS:C4511633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387501"}
is_a: MONDO:0020043 {source="Orphanet:83472"} ! autosomal recessive congenital cerebellar ataxia

[Term]
id: MONDO:0019375
name: megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
def: "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." [Orphanet:83473]
subset: gard_rare {source="GARD:10341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83473"}
subset: ordo_malformation_syndrome {source="Orphanet:83473"}
subset: orphanet_rare {source="Orphanet:83473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus" RELATED [GARD:0010341]
synonym: "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" RELATED [GARD:0010341]
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" RELATED [GARD:0010341, OMIMPS:603387]
synonym: "MPPH syndrome" EXACT [Orphanet:83473]
xref: GARD:10341 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:83473", source="Orphanet:83473/attributed", source="Orphanet:83473/ntbt"}
xref: MEDGEN:928562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:603387 {source="MONDO:equivalentTo"}
xref: Orphanet:83473 {source="MONDO:equivalentTo"}
xref: SCTID:722036008 {source="MONDO:equivalentTo"}
xref: UMLS:C4302893 {source="MEDGEN:928562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001150 {source="https://orcid.org/0000-0001-5208-3432"} ! hydrocephalus
is_a: MONDO:0011348 ! non-syndromic polydactyly
is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
is_a: MONDO:1040002 {source="PMID:23592320", source="PMID:23946963", source="PMID:25557259", source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3CA-related overgrowth spectrum
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603387"} ! inherited

[Term]
id: MONDO:0019376
name: West-Nile encephalitis
def: "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." [Orphanet:83476]
subset: gard_rare {source="GARD:9959", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1847", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83476"}
subset: orphanet_rare {source="Orphanet:83476"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "West Nile Encephalitis" EXACT [NORD:1847]
synonym: "West Nile encephalitis" EXACT [MONDO:0006016]
synonym: "West Nile fever encephalitis" EXACT [DOID:2365]
synonym: "West Nile fever with encephalitis" EXACT [DOID:2365, ICD9CM:066.41]
synonym: "West Nile virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "West Nile virus infectious encephalitis" EXACT []
synonym: "West-Nile fever" EXACT [Orphanet:83476]
xref: DOID:2365 {source="EFO:0007545", source="MONDO:equivalentTo"}
xref: EFO:0007545 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9959 {source="MONDO:GARD"}
xref: ICD10CM:A92.3 {source="Orphanet:83476/ntbt", source="Orphanet:83476"}
xref: ICD10CM:A92.31 {source="DOID:2365"}
xref: ICD9:066.41 {source="DOID:2365", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:155889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014901 {source="DOID:2365", source="EFO:0007545", source="MONDO:directSiblingOf"}
xref: NORD:1847 {source="MONDO:NORD"}
xref: Orphanet:83476 {source="MONDO:equivalentTo"}
xref: SCTID:392662004 {source="DOID:2365", source="MONDO:equivalentTo"}
xref: UMLS:C0751583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155889"}
is_a: MONDO:0005108 {source="DOID:2365", source="EFO:0007545", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83476"} ! viral encephalitis
is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83476"} ! infectious encephalitis
intersection_of: MONDO:0020067 ! infectious encephalitis
intersection_of: MONDO:0100332 NCBITaxon:11082 ! disease has primary infectious agent West Nile virus
relationship: transmitted_by NCBITaxon:7164 ! Anopheles <genus>
relationship: transmitted_by NCBITaxon:7174 ! Culex <genus>

[Term]
id: MONDO:0019377
name: Mycoplasma encephalitis
def: "Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis)." [Orphanet:83482]
subset: gard_rare {source="GARD:19040", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83482"}
subset: orphanet_rare {source="Orphanet:83482"}
subset: rare
synonym: "Mycoplasma pneumoniae caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycoplasma pneumoniae infectious encephalitis" EXACT []
xref: GARD:19040 {source="MONDO:GARD"}
xref: ICD10CM:B96.0 {source="Orphanet:83482/ntbt", source="Orphanet:83482"}
xref: MEDGEN:1636101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:83482 {source="MONDO:equivalentTo"}
xref: UMLS:C4707240 {source="MEDGEN:1636101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83482"} ! infectious encephalitis
intersection_of: MONDO:0020067 ! infectious encephalitis
intersection_of: disease_has_infectious_agent NCBITaxon:2104 ! Mycoplasmoides pneumoniae

[Term]
id: MONDO:0019378
name: la Crosse encephalitis
def: "La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits." [Orphanet:83483]
subset: gard_rare {source="GARD:10925", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83483"}
subset: orphanet_rare {source="Orphanet:83483"}
subset: rare
synonym: "California encephalitis" EXACT [DOID:0050118]
synonym: "California virus encephalitis" EXACT [DOID:0050118]
synonym: "Californian encephalitis" EXACT [Orphanet:83483]
synonym: "La Crosse virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "La Crosse virus infectious encephalitis" EXACT []
synonym: "Neuroinvasive California encephalitis virus infection" EXACT [DOID:0050118]
xref: DOID:0050118 {source="MONDO:equivalentTo"}
xref: GARD:10925 {source="MONDO:GARD"}
xref: ICD10CM:A83.5 {source="Orphanet:83483", source="Orphanet:83483/ntbt", source="DOID:0050118"}
xref: ICD9:062.5 {source="DOID:0050118"}
xref: MedDRA:10014584 {source="Orphanet:83483", source="Orphanet:83483/e"}
xref: MEDGEN:547309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004670 {source="Orphanet:83483", source="MONDO:equivalentTo", source="Orphanet:83483/e", source="DOID:0050118"}
xref: Orphanet:83483 {source="MONDO:equivalentTo"}
xref: SCTID:186588007 {source="DOID:0050118"}
xref: SCTID:266103004 {source="DOID:0050118"}
xref: SCTID:416442006 {source="DOID:0050118"}
xref: SCTID:417075004 {source="DOID:0050118"}
xref: SCTID:418531007 {source="DOID:0050118"}
xref: SCTID:61094002 {source="MONDO:equivalentTo"}
xref: SCTID:69627004 {source="DOID:0050118"}
xref: UMLS:C0276379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547309"}
is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83483"} ! viral encephalitis
is_a: MONDO:0020067 {source="MESH:D004670/inferred", source="MONDO:Redundant", source="Orphanet:83483"} ! infectious encephalitis
intersection_of: MONDO:0020067 ! infectious encephalitis
intersection_of: MONDO:0100332 NCBITaxon:11577 ! disease has primary infectious agent La Crosse virus
relationship: disease_has_infectious_agent NCBITaxon:11577 ! La Crosse virus
relationship: transmitted_by NCBITaxon:7162 ! Ochlerotatus triseriatus

[Term]
id: MONDO:0019379
name: obsolete st. Louis encephalitis
is_obsolete: true
replaced_by: MONDO:0005969

[Term]
id: MONDO:0019380
name: western equine encephalitis
def: "An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders." [Orphanet:83593]
subset: gard_rare {source="GARD:7888", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83593"}
subset: orphanet_rare {source="Orphanet:83593"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "WEE" RELATED ABBREVIATION [DOID:10843]
synonym: "Western equine encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Western equine encephalitis virus infectious encephalitis" EXACT []
synonym: "Western equine encephalomyelitis" EXACT [Orphanet:83593]
xref: DOID:10843 {source="EFO:0007546", source="MONDO:equivalentTo"}
xref: EFO:0007546 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7888 {source="MONDO:GARD"}
xref: ICD10CM:A83.1 {source="Orphanet:83593", source="DOID:10843", source="Orphanet:83593/ntbt", source="MONDO:equivalentTo"}
xref: icd11.foundation:1543765035 {source="Orphanet:83593", source="MONDO:equivalentTo"}
xref: ICD9:062.1 {source="DOID:10843", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10014614 {source="Orphanet:83593", source="Orphanet:83593/e"}
xref: MEDGEN:57778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020241 {source="DOID:10843", source="EFO:0007546", source="MONDO:equivalentTo"}
xref: NCIT:C85227 {source="DOID:10843", source="MONDO:equivalentTo"}
xref: Orphanet:83593 {source="MONDO:equivalentTo"}
xref: SCTID:47523006 {source="DOID:10843", source="MONDO:equivalentTo"}
xref: UMLS:C0153064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57778"}
is_a: MONDO:0005156 {source="EFO:0007546", source="MESH:D020241/inferred", source="MONDO:Redundant", source="NCIT:C85227/inferred"} ! encephalomyelitis
is_a: MONDO:0006009 {source="MONDO:Redundant", source="Orphanet:83593"} ! viral encephalitis
is_a: MONDO:0020067 {source="MESH:D020241/inferred", source="MONDO:Redundant", source="Orphanet:83593"} ! infectious encephalitis
intersection_of: MONDO:0020067 ! infectious encephalitis
intersection_of: MONDO:0100332 NCBITaxon:11039 ! disease has primary infectious agent Western equine encephalitis virus
relationship: disease_has_infectious_agent NCBITaxon:11039 ! Western equine encephalitis virus
relationship: transmitted_by NCBITaxon:7174 ! Culex <genus>
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis" xsd:anyURI {source="GARD:0007888"}

[Term]
id: MONDO:0019381
name: obsolete eastern equine encephalitis
is_obsolete: true
replaced_by: MONDO:0005736

[Term]
id: MONDO:0019382
name: obsolete Colorado tick fever
is_obsolete: true
replaced_by: MONDO:0005708

[Term]
id: MONDO:0019383
name: acute disseminated encephalomyelitis
def: "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system." [Orphanet:83597]
subset: gard_rare {source="GARD:8639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:727"}
subset: ordo_disorder {source="Orphanet:83597"}
subset: orphanet_rare {source="Orphanet:83597"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute disseminated encephalitis" EXACT [DOID:639, Orphanet:83597]
synonym: "acute disseminated encephalomyelitis" EXACT [DOID:639, NCIT:C34578]
synonym: "ADE" RELATED ABBREVIATION [GARD:0008639]
synonym: "ADEM" EXACT ABBREVIATION [DOID:639, ICD9:323.61, Orphanet:83597]
synonym: "post-infectious encephalomyelitis" EXACT [PMID:28613684]
xref: DOID:639 {source="MONDO:equivalentTo", source="EFO:0007130"}
xref: EFO:0007130 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8639 {source="MONDO:GARD"}
xref: ICD10CM:G04.0 {source="Orphanet:83597/ntbt", source="Orphanet:83597"}
xref: icd11.foundation:1390433308 {source="Orphanet:83597", source="MONDO:equivalentTo"}
xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004673 {source="DOID:639", source="MONDO:equivalentTo", source="EFO:0007130"}
xref: NCIT:C34578 {source="DOID:639", source="MONDO:equivalentTo"}
xref: NORD:727 {source="MONDO:NORD"}
xref: Orphanet:83597 {source="MONDO:equivalentTo"}
xref: SCTID:83942000 {source="DOID:639", source="MONDO:equivalentTo"}
xref: UMLS:C0014059 {source="MEDGEN:4033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002562 {source="https://orcid.org/0000-0002-4142-7153"} ! demyelinating disease
is_a: MONDO:0005156 {source="DOID:639", source="EFO:0007130", source="MONDO:Redundant", source="NCIT:C34578"} ! encephalomyelitis
is_a: MONDO:0020068 {source="Orphanet:83597"} ! postinfectious encephalitis
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7917" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis" xsd:anyURI {source="GARD:0008639"}

[Term]
id: MONDO:0019384
name: encephalitis lethargica
def: "A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache." [NCIT:C26761]
subset: gard_rare {source="GARD:6332", source="MONDO:GARD"}
subset: historic_epidemic
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83600"}
subset: orphanet_rare {source="Orphanet:83600"}
subset: rare
synonym: "encephalitis lethargica" EXACT [DOID:5225]
synonym: "epidemic encephalitis" EXACT [NCIT:C34576]
synonym: "lethargic encephalitis" EXACT [http://www.dictionary.com/browse/epidemic-encephalitis]
synonym: "von Economo disease" EXACT [DOID:5225]
synonym: "Von Economo encephalitis" EXACT [Orphanet:83600]
synonym: "von Economo's disease" EXACT [MONDO:0003338]
synonym: "Von Economo’s disease" RELATED [GARD:0006332]
xref: DOID:5225 {source="MONDO:equivalentTo"}
xref: GARD:6332 {source="MONDO:GARD"}
xref: ICD10CM:A85.8 {source="DOID:5225", source="Orphanet:83600", source="Orphanet:83600/ntbt"}
xref: ICD9:049.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10052369 {source="Orphanet:83600", source="Orphanet:83600/e"}
xref: MEDGEN:4028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26761 {source="DOID:5225", source="MONDO:equivalentTo"}
xref: NCIT:C34576 {source="MONDO:equivalentTo"}
xref: Orphanet:83600 {source="MONDO:equivalentTo"}
xref: SCTID:186499007 {source="DOID:5225", source="MONDO:equivalentTo"}
xref: SCTID:186500003 {source="DOID:5225"}
xref: SCTID:20411005 {source="DOID:5225"}
xref: UMLS:C0014040 {source="MEDGEN:4028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006009 {source="NCIT:C26761", source="NCIT:C34576"} ! viral encephalitis
is_a: MONDO:0019956 {source="DOID:5225", source="MONDO:Redundant", source="NCIT:C26761/inferred", source="Orphanet:83600/inferred"} ! encephalitis
is_a: MONDO:0020068 {source="Orphanet:83600"} ! postinfectious encephalitis
is_a: MONDO:0021095 ! parkinsonian disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica" xsd:anyURI {source="GARD:0006332"}

[Term]
id: MONDO:0019385
name: steroid-responsive encephalopathy associated with autoimmune thyroiditis
comment: Editor note: TODO DP for chebi roles
subset: gard_rare {source="GARD:8570", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83601"}
subset: orphanet_rare {source="Orphanet:83601"}
subset: rare
synonym: "Hashimoto encephalitis" RELATED [Orphanet:83601]
synonym: "Hashimoto's encephalitis" RELATED [GARD:0008570]
synonym: "Hashimoto's encephalopathy" RELATED [GARD:0008570]
synonym: "SREAT" EXACT ABBREVIATION [Orphanet:83601]
synonym: "steroid-responsive encephalopathy associated with thyroid disease" BROAD [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/antibody-mediated-overview.html]
xref: GARD:8570 {source="MONDO:GARD"}
xref: ICD10CM:G04.8 {source="Orphanet:83601", source="Orphanet:83601/ntbt"}
xref: MEDGEN:98280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535841 {source="MONDO:equivalentTo"}
xref: Orphanet:83601 {source="MONDO:equivalentTo"}
xref: UMLS:C0393639 {source="MEDGEN:98280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="MESH:C535841/inferred"} ! autoimmune disease
is_a: MONDO:0019956 {source="MESH:C535841", source="Orphanet:83601/inferred"} ! encephalitis
is_a: MONDO:0020068 {source="Orphanet:83601"} ! postinfectious encephalitis
is_a: MONDO:0100029 {source="https://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy
relationship: disease_arises_from_feature MONDO:0007699 ! Hashimoto thyroiditis
relationship: excluded_subClassOf MONDO:0016593 {source="Orphanet:83601", source="https://orcid.org/0000-0001-5208-3432"} ! acquired ataxia
relationship: has_characteristic MONDO:0021141 {source="Orphanet:83601"} ! acquired

[Term]
id: MONDO:0019386
name: progressive rubella panencephalitis
def: "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." [Wikipedia:Progressive_rubella_panencephalitis]
subset: gard_rare {source="GARD:19043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83616"}
subset: orphanet_rare {source="Orphanet:83616"}
subset: rare
synonym: "rubella panencephalitis" RELATED []
xref: GARD:19043 {source="MONDO:GARD"}
xref: ICD10EXP:B06.0+ {source="Orphanet:83616/ntbt", source="Orphanet:83616"}
xref: ICD10EXP:G05.1* {source="Orphanet:83616/ntbt", source="Orphanet:83616"}
xref: MEDGEN:726815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:83616 {source="MONDO:equivalentTo"}
xref: SCTID:10082001 {source="MONDO:equivalentTo"}
xref: UMLS:C1305924 {source="MONDO:equivalentTo", source="MEDGEN:726815", source="MONDO:MEDGEN"}
xref: Wikipedia:Progressive_rubella_panencephalitis
is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83616"} ! infectious encephalitis
is_a: MONDO:0020648 ! rubella encephalitis
relationship: has_characteristic MONDO:0021141 {source="Orphanet:83616"} ! acquired

[Term]
id: MONDO:0019387
name: macrostomia-preauricular tags-external ophthalmoplegia syndrome
def: "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." [Orphanet:83619]
subset: gard_rare {source="GARD:19044", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83619"}
subset: ordo_malformation_syndrome {source="Orphanet:83619"}
subset: orphanet_rare {source="Orphanet:83619"}
subset: rare
xref: GARD:19044 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:83619/attributed", source="Orphanet:83619/ntbt", source="Orphanet:83619"}
xref: MEDGEN:1391725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:83619 {source="MONDO:equivalentTo"}
xref: UMLS:C4509840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1391725"}
is_a: MONDO:0015161 {source="Orphanet:83619"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="Orphanet:83619", source="Orphanet:83619/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0019388
name: pelvis syndrome
def: "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." [Orphanet:83628]
subset: gard_rare {source="GARD:19045", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:83628"}
subset: ordo_malformation_syndrome {source="Orphanet:83628"}
subset: orphanet_rare {source="Orphanet:83628"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome" EXACT [Orphanet:83628]
synonym: "LUMBAR syndrome" EXACT [Orphanet:83628]
synonym: "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" EXACT [Orphanet:83628]
synonym: "SACRAL syndrome" EXACT [Orphanet:83628]
synonym: "urorectal septum malformation sequence" EXACT [Orphanet:83628]
xref: GARD:19045 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:83628/attributed", source="Orphanet:83628/ntbt", source="Orphanet:83628"}
xref: MEDGEN:1374037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:83628 {source="MONDO:equivalentTo"}
xref: SCTID:725138002 {source="MONDO:equivalentTo"}
xref: UMLS:C4510867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1374037"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:83628"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0024296 ! vascular neoplasm
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5345" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0019389
name: obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
comment: Obsoleted in Orphanet
xref: ICD10CM:Q87.0 {source="Orphanet:83648", source="Orphanet:83648/attributed", source="Orphanet:83648/ntbt"}
xref: Orphanet:83648 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2131" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019390
name: Susac syndrome
def: "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." [Orphanet:838]
subset: gard_rare {source="GARD:7713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1747"}
subset: ordo_disorder {source="Orphanet:838"}
subset: orphanet_rare {source="Orphanet:838"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RED-M" EXACT [Orphanet:838]
synonym: "Retinocochleocerebral vasculopathy" EXACT [Orphanet:838]
synonym: "retinopathy-encephalopathy-deafness associated with microangiopathy" EXACT [Orphanet:838]
synonym: "SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome" RELATED [GARD:0007713]
synonym: "SICRET syndrome" EXACT [Orphanet:838]
synonym: "small infarctions of cochlear, retinal and encephalic tissue" EXACT [Orphanet:838]
xref: EFO:1001856 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7713 {source="MONDO:GARD"}
xref: ICD10CM:I67.7 {source="Orphanet:838", source="Orphanet:838/ntbt"}
xref: ICD9:348.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10071573 {source="Orphanet:838", source="Orphanet:838/e"}
xref: MEDGEN:439270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055955 {source="MONDO:equivalentTo", source="Orphanet:838", source="Orphanet:838/e"}
xref: NCIT:C116363 {source="MONDO:equivalentTo"}
xref: NORD:1747 {source="MONDO:NORD"}
xref: Orphanet:838 {source="MONDO:equivalentTo"}
xref: SCTID:702575003 {source="MONDO:equivalentTo"}
xref: UMLS:C2717757 {source="MONDO:equivalentTo", source="MEDGEN:439270", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C116363"} ! syndromic disease
is_a: MONDO:0007179 {source="EFO:1001856", source="MONDO:Redundant", source="NCIT:C116363"} ! autoimmune disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome" xsd:anyURI {source="GARD:0007713"}

[Term]
id: MONDO:0019391
name: Fanconi anemia
def: "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." [Orphanet:84]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1132"}
subset: ordo_disorder {source="Orphanet:84"}
subset: ordo_malformation_syndrome {source="Orphanet:84"}
subset: orphanet_rare {source="Orphanet:84"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fanconi anemia" EXACT CLINGEN_LABEL []
synonym: "Fanconi pancytopenia" EXACT [DOID:13636, Orphanet:84]
synonym: "Fanconi panmyelopathy" EXACT [DOID:13636]
synonym: "Fanconi's anaemia" EXACT OMO:0003005 []
synonym: "Fanconi's anemia" EXACT [DOID:13636]
synonym: "pancytopenia, congenital" EXACT [NCIT:C62505]
synonym: "Panmyelopathy, Fanconi" EXACT [NCIT:C62505]
synonym: "primary erythroid hypoplasia" EXACT [NCIT:C62505]
xref: DOID:13636 {source="MONDO:equivalentTo"}
xref: GARD:6425 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:84/ntbt", source="Orphanet:84/inclusion", source="Orphanet:84"}
xref: ICD10CM:D61.09 {source="DOID:13636"}
xref: ICD9:284.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10055206 {source="Orphanet:84/e", source="Orphanet:84"}
xref: MEDGEN:41967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005199 {source="DOID:13636", source="Orphanet:84/e", source="MONDO:equivalentTo", source="Orphanet:84"}
xref: NANDO:1200303 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200891 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200652 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C62505 {source="DOID:13636", source="MONDO:equivalentTo"}
xref: NORD:1132 {source="MONDO:NORD"}
xref: OMIMPS:227650 {source="DOID:13636", source="MONDO:equivalentTo"}
xref: Orphanet:84 {source="DOID:13636", source="MONDO:equivalentTo"}
xref: SCTID:30575002 {source="DOID:13636", source="MONDO:equivalentTo"}
xref: UMLS:C0015625 {source="MONDO:equivalentTo", source="MEDGEN:41967", source="MONDO:MEDGEN"}
is_a: MONDO:0001713 {source="DOID:13636", source="MESH:D005199", source="Orphanet:84"} ! inherited aplastic anemia
is_a: MONDO:0003225 {source="PMID:31953710"} ! bone marrow disorder
is_a: MONDO:0005570 ! hematologic disorder
is_a: MONDO:0015161 {source="Orphanet:84"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0021190 {source="MESH:D005199", source="MONDO:Redundant", source="NCIT:C62505"} ! DNA repair disease
relationship: disease_has_basis_in_disruption_of GO:0006281 {source="https://orcid.org/0000-0002-6601-2165"} ! DNA repair
relationship: excluded_subClassOf MONDO:0018234 {source="https://orcid.org/0000-0002-0587-4693"} ! dysostosis
relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:84", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin
relationship: excluded_subClassOf MONDO:0100137 {source="PMID:29804726", source="https://orcid.org/0000-0002-0587-4693"} ! telomere syndrome
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:227650"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0019392
name: syringocystadenoma papilliferum
def: "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." [NCIT:C4172]
subset: gard_rare {source="GARD:5100", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:840"}
subset: orphanet_rare {source="Orphanet:840"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fistulous vegetative verrucous hydradenoma" EXACT [Orphanet:840]
synonym: "naevus syringocystadenomatosus papilliferus" EXACT [Orphanet:840]
synonym: "papillary Syringadenoma" EXACT [NCIT:C4172]
synonym: "papillary syringadenoma (morphologic abnormality)" EXACT [DOID:5445]
synonym: "papillary Syringadenoma (syringocystadenoma papilliferum)" EXACT [DOID:5445, NCIT:C4172]
synonym: "papillary syringocystadenoma" EXACT [NCIT:C4172]
synonym: "SCAP" EXACT ABBREVIATION [Orphanet:840]
synonym: "Syringadenoma" EXACT [NCIT:C4172]
synonym: "Syringadenoma papilliferum" EXACT [Orphanet:840]
synonym: "syringocystadenoma papilliferum" EXACT [MONDO:0006439, NCIT:C4172]
xref: DOID:5445 {source="MONDO:equivalentTo"}
xref: EFO:1000558 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5100 {source="MONDO:GARD"}
xref: ICD10CM:D23.9 {source="Orphanet:840", source="Orphanet:840/ntbt"}
xref: ICDO:8406/0 {source="NCIT:C4172"}
xref: MedDRA:10042926 {source="Orphanet:840", source="Orphanet:840/e"}
xref: MEDGEN:98362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4172 {source="DOID:5445", source="MONDO:equivalentTo", source="EFO:1000558"}
xref: Orphanet:840 {source="MONDO:equivalentTo"}
xref: SCTID:239121009 {source="DOID:5445", source="MONDO:equivalentTo"}
xref: SCTID:8934006 {source="DOID:5445"}
xref: UMLS:C0406803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98362"}
is_a: MONDO:0004972 {source="EFO:1000558", source="MONDO:Redundant", source="NCIT:C4172/inferred"} ! adenoma
is_a: MONDO:0021110 {source="NCIT:C4172"} ! sweat gland adenoma
relationship: excluded_subClassOf MONDO:0003686 {source="DOID:5445", source="https://orcid.org/0000-0001-5208-3432"} ! apocrine sweat gland neoplasm
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:840", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma

[Term]
id: MONDO:0019393
name: idiopathic malabsorption due to bile acid synthesis defects
def: "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." [Orphanet:84065]
subset: gard_rare {source="GARD:19046", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84065"}
subset: orphanet_rare {source="Orphanet:84065"}
subset: rare
synonym: "idiopathic bile acid malabsorption" EXACT [Orphanet:84065]
xref: GARD:19046 {source="MONDO:GARD"}
xref: ICD10CM:K90.8 {source="Orphanet:84065/ntbt", source="Orphanet:84065"}
xref: MEDGEN:900722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:84065 {source="MONDO:equivalentTo"}
xref: UMLS:C4274509 {source="MEDGEN:900722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0019218 {source="Orphanet:84065"} ! inborn disorder of bile acid synthesis
is_a: MONDO:0020598 {source="https://orcid.org/0000-0002-3458-4839"} ! malabsorption syndrome
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0019394
name: Senior-Boichis syndrome
def: "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child." [Orphanet:84081]
subset: gard_rare {source="GARD:16730", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84081"}
subset: orphanet_rare {source="Orphanet:84081"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Boichis disease" EXACT [Orphanet:84081]
synonym: "nephronophthisis-hepatic fibrosis syndrome" EXACT [Orphanet:84081]
xref: GARD:16730 {source="MONDO:GARD"}
xref: MEDGEN:902988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:84081 {source="MONDO:equivalentTo"}
xref: SCTID:717187000 {source="MONDO:equivalentTo"}
xref: UMLS:C4274018 {source="MEDGEN:902988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015962 {source="Orphanet:84081"} ! inherited renal tubular disease

[Term]
id: MONDO:0019395
name: Hinman syndrome
def: "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits." [Orphanet:84085]
subset: gard_rare {source="GARD:19047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84085"}
subset: orphanet_rare {source="Orphanet:84085"}
subset: rare
synonym: "HAS" EXACT ABBREVIATION [Orphanet:84085]
synonym: "Hinman-Allen syndrome" EXACT [Orphanet:84085]
synonym: "HS" EXACT ABBREVIATION [Orphanet:84085]
synonym: "non-neurogenic neurogenic bladder" EXACT [Orphanet:84085]
synonym: "occult neuropathic bladder" EXACT [Orphanet:84085]
xref: GARD:19047 {source="MONDO:GARD"}
xref: ICD10CM:N32.8 {source="Orphanet:84085/ntbt", source="Orphanet:84085"}
xref: ICD9:596.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:744421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:84085 {source="MONDO:equivalentTo"}
xref: SCTID:429233001 {source="MONDO:equivalentTo"}
xref: UMLS:C1997362 {source="MEDGEN:744421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006026 {source="https://github.com/monarch-initiative/mondo/issues/885"} ! urinary bladder disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015106"} ! rare

[Term]
id: MONDO:0019396
name: collagen type III glomerulopathy
def: "A rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed." [https://orcid.org/0000-0001-5208-3432, Orphanet:84087]
subset: gard_rare {source="GARD:19048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84087"}
subset: orphanet_rare {source="Orphanet:84087"}
subset: rare
synonym: "Collagenofibrotic glomerulopathy" EXACT [Orphanet:84087]
xref: GARD:19048 {source="MONDO:GARD"}
xref: ICD10CM:N07.6 {source="Orphanet:84087/ntbt", source="Orphanet:84087"}
xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:836996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:84087 {source="MONDO:equivalentTo"}
xref: SCTID:708127008 {source="MONDO:equivalentTo"}
xref: UMLS:C3872695 {source="MEDGEN:836996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:84087", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0019397
name: unknown leukodystrophy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:E75.2 {source="Orphanet:84096/attributed", source="Orphanet:84096/ntbt", source="Orphanet:84096"}
xref: Orphanet:84096 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019046 {source="Orphanet:84096"} ! leukodystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019398
name: desmin-related myopathy with Mallory body-like inclusions
subset: gard_rare {source="GARD:16732", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84132"}
subset: orphanet_rare {source="Orphanet:84132"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset desmin-related myopathy" EXACT [Orphanet:84132]
xref: GARD:16732 {source="MONDO:GARD"}
xref: ICD10CM:G71.8 {source="Orphanet:84132", source="Orphanet:84132/attributed", source="Orphanet:84132/ntbt"}
xref: MEDGEN:898925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:84132 {source="MONDO:equivalentTo"}
xref: UMLS:C4275073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898925"}
is_a: MONDO:0011271 ! rigid spine muscular dystrophy 1
is_a: MONDO:0016112 {source="Orphanet:84132"} ! hereditary inclusion-body myopathy
is_a: MONDO:0016187 {source="MONDO:Redundant", source="Orphanet:84132"} ! qualitative or quantitative defects of desmin

[Term]
id: MONDO:0019399
name: Isaac syndrome
def: "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia." [Orphanet:84142]
subset: gard_rare {source="GARD:6793", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:84142"}
subset: orphanet_rare {source="Orphanet:84142"}
subset: rare
synonym: "acquired neuromyotonia" EXACT [Orphanet:84142]
synonym: "continuous muscle fiber activity syndrome" EXACT [Orphanet:84142]
synonym: "continuous muscle fibre activity syndrome" EXACT OMO:0003005 []
synonym: "Isaac's-Merten's syndrome" RELATED [GARD:0006793]
synonym: "Isaac-Mertens syndrome" EXACT [Orphanet:84142]
synonym: "Isaacs' syndrome" RELATED [GARD:0006793]
synonym: "neuromyotonia" RELATED [GARD:0006793]
synonym: "peripheral nerve hyperexcitability" EXACT [Orphanet:84142]
synonym: "Quantal squander syndrome" EXACT [Orphanet:84142]
xref: GARD:6793 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:84142/ntbt", source="Orphanet:84142"}
xref: icd11.foundation:646523932 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:84142"}
xref: MEDGEN:116151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200510 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:84142 {source="MONDO:equivalentTo"}
xref: SCTID:305719002 {source="MONDO:equivalentTo"}
xref: UMLS:C0242287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116151"}
is_a: MONDO:0019119 {source="Orphanet:84142"} ! muscular channelopathy

[Term]
id: MONDO:0019400
name: obsolete testicular seminomatous germ cell tumor
is_obsolete: true
replaced_by: MONDO:0003669

[Term]
id: MONDO:0019401
name: sporadic idiopathic steroid-resistant nephrotic syndrome
def: "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema." [Orphanet:84271]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_clinical_syndrome {source="Orphanet:84271"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sporadic idiopathic nephrosis" EXACT [Orphanet:84271]
xref: ICD10CM:N04.1 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"}
xref: ICD10CM:N04.3 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"}
xref: ICD10CM:N04.8 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"}
xref: MEDGEN:897207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:84271 {source="MONDO:equivalentObsolete"}
xref: SCTID:717191005 {source="MONDO:equivalentTo"}
xref: UMLS:C4274017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897207"}
is_a: MONDO:0018170 {source="Orphanet:84271"} ! idiopathic nephrotic syndrome
is_a: MONDO:0044765 {source="https://orcid.org/0000-0001-5208-3432"} ! steroid-resistant nephrotic syndrome

[Term]
id: MONDO:0019402
name: beta thalassemia
def: "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." [Orphanet:848]
subset: gard_rare {source="GARD:871", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1765"}
subset: ordo_disorder {source="Orphanet:848"}
subset: orphanet_rare {source="Orphanet:848"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Beta thalassemia intermedia" RELATED [GARD:0000871]
synonym: "Beta thalassemia minor" RELATED [GARD:0000871]
synonym: "erythroblastic anaemia" RELATED OMO:0003005 []
synonym: "erythroblastic anemia" RELATED [GARD:0000871]
synonym: "thalassemia major" RELATED [NCIT:C34375]
synonym: "thalassemia, Hispanic gamma-delta-beta" RELATED [GARD:0000871]
synonym: "Thalassemias, beta-" RELATED [GARD:0000871]
xref: DOID:12241 {source="MONDO:equivalentTo"}
xref: GARD:871 {source="MONDO:GARD"}
xref: ICD10CM:D56.1 {source="Orphanet:848/specific", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/e"}
xref: icd11.foundation:2063292324 {source="MONDO:equivalentTo", source="Orphanet:848", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:282.44 {source="DOID:12241"}
xref: ICD9:282.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10043391 {source="Orphanet:848", source="Orphanet:848/e"}
xref: MEDGEN:2611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017086 {source="MONDO:equivalentTo", source="DOID:12241", source="Orphanet:848", source="Orphanet:848/e"}
xref: NANDO:2201274 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34375 {source="MONDO:equivalentTo", source="DOID:12241"}
xref: NORD:1765 {source="MONDO:NORD"}
xref: Orphanet:848 {source="MONDO:equivalentTo", source="DOID:12241"}
xref: SCTID:191190000 {source="DOID:12241"}
xref: SCTID:65959000 {source="MONDO:equivalentTo", source="DOID:12241"}
xref: UMLS:C0005283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2611"}
is_a: MONDO:0000984 {source="DOID:12241", source="MESH:D017086", source="NCIT:C34375", source="Orphanet:848/inferred"} ! thalassemia
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
is_a: MONDO:0005570 ! hematologic disorder
is_a: MONDO:0017145 {source="Orphanet:848"} ! beta-thalassemia and related diseases
relationship: excluded_subClassOf MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5657" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI

[Term]
id: MONDO:0019403
name: congenital dyserythropoietic anemia
def: "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA." [Orphanet:85]
subset: disease_grouping
subset: gard_rare {source="GARD:1999", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:85"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, congenital dyserythropoietic" EXACT [OMIMPS:224120]
synonym: "CDA" EXACT ABBREVIATION [Orphanet:85]
synonym: "congenital dyshaematopoietic anaemia" EXACT OMO:0003005 []
synonym: "congenital dyshaematopoietic anemia" EXACT [DOID:1338]
synonym: "dyserythropoietic anemia, congenital" RELATED [GARD:0001999]
xref: DOID:1338 {source="MONDO:equivalentTo"}
xref: GARD:1999 {source="MONDO:GARD"}
xref: ICD10CM:D64.4 {source="Orphanet:85/specific", source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"}
xref: icd11.foundation:899830967 {source="MONDO:equivalentTo", source="Orphanet:85", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000742 {source="Orphanet:85/e", source="MONDO:equivalentTo", source="DOID:1338", source="Orphanet:85"}
xref: NANDO:1200885 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100178 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200615 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84646 {source="MONDO:equivalentTo", source="DOID:1338"}
xref: OMIMPS:224120 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:85 {source="MONDO:equivalentTo", source="DOID:1338"}
xref: SCTID:191272005 {source="DOID:1338"}
xref: SCTID:52951008 {source="MONDO:equivalentTo", source="DOID:1338"}
xref: UMLS:C0002876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8064"}
is_a: MONDO:0003664 {source="MONDO:Redundant", source="MONDO:indirect"} ! hemolytic anemia
is_a: MONDO:0003689 {source="DOID:1338", source="MESH:D000742"} ! familial hemolytic anemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020100"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:224120"} ! inherited

[Term]
id: MONDO:0019404
name: perineurioma
def: "A usually benign perineurioma not associated with a nerve, arising from the soft tissues." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:12698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:85102"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "perineurioma" EXACT [NCIT:C4973]
synonym: "soft tissue perineurioma" RELATED [DOID:4697, NCIT:C6912]
xref: DOID:4697 {source="MONDO:equivalentTo"}
xref: GARD:12698 {source="MONDO:GARD"}
xref: ICD10CM:C47.9 {source="Orphanet:85102/ntbt", source="Orphanet:85102"}
xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9571/0 {source="NCIT:C4973"}
xref: MEDGEN:199712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018317 {source="DOID:4697"}
xref: NCIT:C4973 {source="DOID:4697", source="MONDO:equivalentTo"}
xref: Orphanet:85102 {source="MONDO:equivalentTo"}
xref: SCTID:128795001 {source="DOID:4697"}
xref: SCTID:404036006 {source="DOID:4697", source="MONDO:equivalentTo"}
xref: UMLS:C0751691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199712"}
is_a: MONDO:0002547 {source="DOID:4697", source="NCIT:C4973"} ! nerve sheath neoplasm
is_a: MONDO:0016749 {source="Orphanet:85102"} ! tumor of cranial and spinal nerves
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12698/perineurioma" xsd:anyURI {source="GARD:0012698"}

[Term]
id: MONDO:0019405
name: facial onset sensory and motor neuronopathy
def: "Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease." [Orphanet:85162]
subset: gard_rare {source="GARD:12036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85162"}
subset: orphanet_rare {source="Orphanet:85162"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "facial onset sensorimotor neuronopathy syndrome" RELATED [GARD:0012036]
synonym: "facial onset sensory and motor neuronopathy syndrome" RELATED [GARD:0012036]
synonym: "FOSMN syndrome" EXACT [Orphanet:85162]
xref: GARD:12036 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:85162/attributed", source="Orphanet:85162/ntbt", source="Orphanet:85162"}
xref: MEDGEN:1374397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85162 {source="MONDO:equivalentTo"}
xref: SCTID:723306004 {source="MONDO:equivalentTo"}
xref: UMLS:C4509818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1374397"}
is_a: MONDO:0024237 {source="Orphanet:85162"} ! inherited neurodegenerative disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy" xsd:anyURI {source="GARD:0012036"}

[Term]
id: MONDO:0019406
name: craniofacial conodysplasia
def: "Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." [Orphanet:85168]
subset: gard_rare {source="GARD:19049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85168"}
subset: ordo_malformation_syndrome {source="Orphanet:85168"}
subset: orphanet_rare {source="Orphanet:85168"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19049 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:85168/attributed", source="Orphanet:85168/ntbt", source="Orphanet:85168"}
xref: MEDGEN:929531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85168 {source="MONDO:equivalentTo"}
xref: UMLS:C4303862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929531"}
is_a: MONDO:0019695 {source="Orphanet:85168"} ! acromelic dysplasia

[Term]
id: MONDO:0019407
name: microcephalic osteodysplastic dysplasia, Saul-Wilson type
def: "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1." [ECO:0007645, PMID:30290151]
subset: gard_rare {source="GARD:16736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85172"}
subset: orphanet_rare {source="Orphanet:85172"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephalic osteodysplastic dysplasia" EXACT [OMIM:618150]
synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [DOID:0111673]
synonym: "Saul-Wilson syndrome" EXACT [MONDO:0029146, OMIM:618150]
synonym: "SWILS" EXACT ABBREVIATION [DOID:0111673, OMIM:618150]
xref: DOID:0111673 {source="MONDO:equivalentTo"}
xref: GARD:16736 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:85172", source="Orphanet:85172/attributed", source="Orphanet:85172/ntbt"}
xref: MEDGEN:722057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618150 {source="MONDO:equivalentTo", source="DOID:0111673"}
xref: Orphanet:85172 {source="MONDO:equivalentTo", source="DOID:0111673"}
xref: UMLS:C1300285 {source="MEDGEN:722057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0111673"} ! autosomal dominant disease
is_a: MONDO:0005497 {source="DOID:0111673"} ! bone development disease
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019408
name: Astley-Kendall dysplasia
def: "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases." [Orphanet:85175]
subset: gard_rare {source="GARD:19050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85175"}
subset: ordo_malformation_syndrome {source="Orphanet:85175"}
subset: orphanet_rare {source="Orphanet:85175"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Astley-Kendall syndrome" RELATED [GARD:0009220]
synonym: "short limbed dwarfism with extensive stippling" RELATED [GARD:0009220]
xref: GARD:19050 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:85175/attributed", source="Orphanet:85175/ntbt", source="Orphanet:85175"}
xref: MEDGEN:224886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535392 {source="MONDO:equivalentTo"}
xref: NANDO:2201362 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:85175 {source="MONDO:equivalentTo"}
xref: SCTID:389263004 {source="MONDO:equivalentTo"}
xref: UMLS:C1300228 {source="MEDGEN:224886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019701 {source="MESH:C535392", source="Orphanet:85175"} ! chondrodysplasia punctata

[Term]
id: MONDO:0019409
name: idiopathic juvenile osteoporosis
def: "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age." [Orphanet:85193]
subset: gard_rare {source="GARD:6760", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85193"}
subset: ordo_malformation_syndrome {source="Orphanet:85193"}
subset: orphanet_rare {source="Orphanet:85193"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic juvenile osteoporosis" EXACT [OMIM:259750]
synonym: "idiopathic osteoporosis" EXACT [DOID:12559]
synonym: "Ijo" EXACT [Orphanet:85193]
synonym: "juvenile osteoporosis" EXACT [DOID:12559, Orphanet:85193]
synonym: "osteoporosis, juvenile" RELATED [OMIM:259750]
synonym: "Paediatric osteoporosis" EXACT OMO:0003005 []
synonym: "Pediatric osteoporosis" EXACT [NCIT:C119996]
xref: DOID:12559 {source="MONDO:equivalentTo"}
xref: GARD:6760 {source="MONDO:GARD"}
xref: ICD9:733.02 {source="DOID:12559", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:120494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537700 {source="MONDO:equivalentTo"}
xref: NCIT:C119996 {source="MONDO:equivalentTo"}
xref: OMIM:259750 {source="DOID:12559", source="MONDO:equivalentTo", source="Orphanet:85193/btnt", source="Orphanet:85193"}
xref: OMIM:615221 {source="MONDO:relatedTo", source="Orphanet:85193/btnt", source="Orphanet:85193"}
xref: Orphanet:85193 {source="OMIM:259750", source="MONDO:equivalentTo"}
xref: SCTID:3345002 {source="DOID:12559", source="MONDO:equivalentTo"}
xref: UMLS:C0264080 {source="MEDGEN:120494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005298 {source="DC-OMIM:259750", source="DOID:12559", source="MESH:C537700", source="NCIT:C119996"} ! osteoporosis
is_a: MONDO:0005554 {source="Orphanet:85193"} ! rheumatic disorder
relationship: disease_has_feature HP:0004349 {source="Orphanet:85193"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:85193", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0019410
name: obsolete nodulosis-arthropathy-osteolysis syndrome
comment: Obsolete in Orphanet
xref: ICD10CM:M89.5 {source="Orphanet:85196/attributed", source="Orphanet:85196/ntbt", source="Orphanet:85196"}
xref: Orphanet:85196 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0018298

[Term]
id: MONDO:0019411
name: genochondromatosis type 1
def: "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." [Orphanet:85197]
subset: gard_rare {source="GARD:16741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85197"}
subset: orphanet_rare {source="Orphanet:85197"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16741 {source="MONDO:GARD"}
xref: ICD10CM:Q78.4 {source="Orphanet:85197/attributed", source="Orphanet:85197/ntbt", source="Orphanet:85197"}
xref: MEDGEN:1761731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85197 {source="MONDO:equivalentTo"}
xref: UMLS:C5438970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761731"}
is_a: MONDO:0007653 {source="https://orcid.org/0000-0001-5208-3432"} ! genochondromatosis
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:85197", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components

[Term]
id: MONDO:0019412
name: dysspondyloenchondromatosis
def: "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." [Orphanet:85198]
subset: gard_rare {source="GARD:19051", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85198"}
subset: ordo_malformation_syndrome {source="Orphanet:85198"}
subset: orphanet_rare {source="Orphanet:85198"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19051 {source="MONDO:GARD"}
xref: ICD10CM:Q78.4 {source="Orphanet:85198/attributed", source="Orphanet:85198/ntbt", source="Orphanet:85198"}
xref: MEDGEN:928217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85198 {source="MONDO:equivalentTo"}
xref: SCTID:722434004 {source="MONDO:equivalentTo"}
xref: UMLS:C4302548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928217"}
is_a: MONDO:0018230 {source="Orphanet:85198"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:85198", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components

[Term]
id: MONDO:0019413
name: ischio-vertebral syndrome
def: "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." [Orphanet:85200]
subset: gard_rare {source="GARD:19052", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:85200"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ischio-spinal dysostosis" EXACT [Orphanet:85200]
synonym: "ischio-vertebral dysplasia" EXACT [Orphanet:85200]
xref: GARD:19052 {source="MONDO:GARD"}
xref: ICD10CM:Q77.8 {source="Orphanet:85200", source="Orphanet:85200/attributed", source="Orphanet:85200/ntbt"}
xref: MEDGEN:903166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85200 {source="MONDO:equivalentTo"}
xref: SCTID:715654001 {source="MONDO:equivalentTo"}
xref: UMLS:C4274732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903166"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018234 {source="PMID:16547749", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019414
name: BRESEK syndrome
def: "A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." [Orphanet:85284]
subset: gard_rare {source="GARD:16746", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:85284"}
subset: ordo_malformation_syndrome {source="Orphanet:85284"}
subset: orphanet_rare {source="Orphanet:85284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BRESHECK syndrome" EXACT [Orphanet:85284]
xref: GARD:16746 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85284/attributed", source="Orphanet:85284/ntbt", source="Orphanet:85284"}
xref: MEDGEN:502868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564519 {source="MONDO:equivalentTo"}
xref: Orphanet:85284 {source="MONDO:equivalentTo"}
xref: SCTID:717945001 {source="MONDO:equivalentTo"}
xref: UMLS:C3502469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:502868"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85284", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85284", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0100213 {source="https://orcid.org/0000-0001-5208-3432"} ! IFAP syndrome 1, with or without BRESHECK syndrome

[Term]
id: MONDO:0019415
name: fetal and neonatal alloimmune thrombocytopenia
def: "Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids." [https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia]
subset: gard_rare {source="GARD:2295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:91170"}
subset: ordo_disorder {source="Orphanet:853"}
subset: orphanet_rare {source="Orphanet:853"}
subset: rare
synonym: "NAIT" EXACT ABBREVIATION [Orphanet:853]
xref: GARD:2295 {source="MONDO:GARD"}
xref: ICD10CM:P61.0 {source="Orphanet:853/ntbt", source="MONDO:relatedTo", source="Orphanet:853"}
xref: MEDGEN:1720701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200647 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:91170 {source="MONDO:NORD"}
xref: Orphanet:853 {source="MONDO:equivalentTo"}
xref: SCTID:240305000 {source="MONDO:equivalentTo"}
xref: UMLS:C3854603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720701"}
is_a: MONDO:0002243 {source="GARD:0002295"} ! hemorrhagic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia" xsd:anyURI {source="GARD:0002295"}

[Term]
id: MONDO:0019416
name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
def: "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." [Orphanet:85317]
subset: gard_rare {source="GARD:19053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85317"}
subset: ordo_malformation_syndrome {source="Orphanet:85317"}
subset: orphanet_rare {source="Orphanet:85317"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19053 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85317", source="Orphanet:85317/attributed", source="Orphanet:85317/ntbt"}
xref: MEDGEN:930588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85317 {source="MONDO:equivalentTo"}
xref: UMLS:C4304919 {source="MEDGEN:930588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85317"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85317", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019417
name: X-linked intellectual disability-precocious puberty-obesity syndrome
def: "X-linked intellectual disability-precocious puberty-obesity syndrome is characterized by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked." [Orphanet:85318]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:85318"}
xref: ICD10CM:Q87.8 {source="Orphanet:85318", source="Orphanet:85318/attributed", source="Orphanet:85318/ntbt"}
xref: Orphanet:85318 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0020119 {source="Orphanet:85318", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019418
name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
def: "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." [Orphanet:85319]
subset: gard_rare {source="GARD:19054", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85319"}
subset: ordo_malformation_syndrome {source="Orphanet:85319"}
subset: orphanet_rare {source="Orphanet:85319"}
subset: rare
xref: GARD:19054 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85319/attributed", source="Orphanet:85319/ntbt", source="Orphanet:85319"}
xref: MEDGEN:930586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85319 {source="MONDO:equivalentTo"}
xref: UMLS:C4304917 {source="MEDGEN:930586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85319"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85319", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019419
name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome
def: "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome." [Orphanet:85320]
subset: gard_rare {source="GARD:19055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85320"}
subset: ordo_malformation_syndrome {source="Orphanet:85320"}
subset: orphanet_rare {source="Orphanet:85320"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Johnson syndrome" EXACT [Orphanet:85320]
xref: GARD:19055 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85320", source="Orphanet:85320/attributed", source="Orphanet:85320/ntbt"}
xref: MEDGEN:930075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85320 {source="MONDO:equivalentTo"}
xref: SCTID:719825000 {source="MONDO:equivalentTo"}
xref: UMLS:C4304406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930075"}
is_a: MONDO:0020119 {source="Orphanet:85320", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019420
name: X-linked intellectual disability, Pai type
def: "X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome." [Orphanet:85322]
subset: gard_rare {source="GARD:19056", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85322"}
subset: ordo_malformation_syndrome {source="Orphanet:85322"}
subset: orphanet_rare {source="Orphanet:85322"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19056 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85322/attributed", source="Orphanet:85322/ntbt", source="Orphanet:85322"}
xref: MEDGEN:930695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85322 {source="MONDO:equivalentTo"}
xref: SCTID:719011002 {source="MONDO:equivalentTo"}
xref: UMLS:C4305026 {source="MEDGEN:930695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85322"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85322", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019421
name: X-linked intellectual disability, Seemanova type
def: "X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." [Orphanet:85323]
subset: gard_rare {source="GARD:19057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85323"}
subset: orphanet_rare {source="Orphanet:85323"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19057 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85323", source="Orphanet:85323/attributed", source="Orphanet:85323/ntbt"}
xref: MEDGEN:930757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85323 {source="MONDO:equivalentTo"}
xref: SCTID:718897009 {source="MONDO:equivalentTo"}
xref: UMLS:C4305088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930757"}
is_a: MONDO:0020119 {source="Orphanet:85323", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019422
name: X-linked intellectual disability, Stevenson type
def: "An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." [Orphanet:85325]
subset: gard_rare {source="GARD:19058", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85325"}
subset: ordo_malformation_syndrome {source="Orphanet:85325"}
subset: orphanet_rare {source="Orphanet:85325"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19058 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85325/attributed", source="Orphanet:85325/ntbt", source="Orphanet:85325"}
xref: MEDGEN:930746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85325 {source="MONDO:equivalentTo"}
xref: SCTID:718909001 {source="MONDO:equivalentTo"}
xref: UMLS:C4305077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930746"}
is_a: MONDO:0015159 {source="Orphanet:85325"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85325", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019423
name: X-linked intellectual disability, Stoll type
def: "X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." [Orphanet:85326]
subset: gard_rare {source="GARD:19059", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85326"}
subset: ordo_malformation_syndrome {source="Orphanet:85326"}
subset: orphanet_rare {source="Orphanet:85326"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19059 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85326", source="Orphanet:85326/attributed", source="Orphanet:85326/ntbt"}
xref: MEDGEN:930744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85326 {source="MONDO:equivalentTo"}
xref: SCTID:718911005 {source="MONDO:equivalentTo"}
xref: UMLS:C4305075 {source="MONDO:equivalentTo", source="MEDGEN:930744", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:85326"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020119 {source="Orphanet:85326", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019424
name: X-linked intellectual disability-acromegaly-hyperactivity syndrome
def: "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." [Orphanet:85327]
subset: gard_rare {source="GARD:19060", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:85327"}
subset: orphanet_rare {source="Orphanet:85327"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19060 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85327", source="Orphanet:85327/attributed", source="Orphanet:85327/ntbt"}
xref: MEDGEN:930076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85327 {source="MONDO:equivalentTo"}
xref: UMLS:C4304407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930076"}
is_a: MONDO:0020119 {source="Orphanet:85327", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019425
name: obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2843" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010574

[Term]
id: MONDO:0019426
name: X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
def: "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive." [Orphanet:85330]
synonym: "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" RELATED [GARD:0012489]
xref: ICD10CM:Q87.8 {source="Orphanet:85330/attributed", source="Orphanet:85330/ntbt", source="Orphanet:85330"}
xref: MEDGEN:930605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85330 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4304936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930605"}
is_a: MONDO:0020119 {source="Orphanet:85330", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019427
name: X-linked neurodegenerative syndrome, Bertini type
def: "X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." [Orphanet:85334]
subset: gard_rare {source="GARD:19061", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85334"}
subset: orphanet_rare {source="Orphanet:85334"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19061 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:85334", source="Orphanet:85334/attributed", source="Orphanet:85334/ntbt"}
xref: MEDGEN:930802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85334 {source="MONDO:equivalentTo"}
xref: SCTID:718849008 {source="MONDO:equivalentTo"}
xref: UMLS:C4305133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930802"}
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:85334"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85334", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0019428
name: fried syndrome
def: "A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." [Orphanet:85335]
subset: gard_rare {source="GARD:16753", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:85335"}
subset: ordo_malformation_syndrome {source="Orphanet:85335"}
subset: orphanet_rare {source="Orphanet:85335"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16753 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:85335/attributed", source="Orphanet:85335/ntbt", source="Orphanet:85335"}
xref: MEDGEN:930803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85335 {source="MONDO:equivalentTo"}
xref: SCTID:718848000 {source="MONDO:equivalentTo"}
xref: UMLS:C4305134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930803"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85335", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85335", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019429
name: X-linked neurodegenerative syndrome, Hamel type
def: "An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." [Orphanet:85336]
subset: gard_rare {source="GARD:19062", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85336"}
subset: orphanet_rare {source="Orphanet:85336"}
subset: rare
xref: GARD:19062 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:85336/attributed", source="Orphanet:85336/ntbt", source="Orphanet:85336"}
xref: MEDGEN:930804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85336 {source="MONDO:equivalentTo"}
xref: SCTID:718847005 {source="MONDO:equivalentTo"}
xref: UMLS:C4305135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930804"}
is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:85336"} ! inherited neurodegenerative disorder
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85336", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0019430
name: X-linked intellectual disability-ataxia-apraxia syndrome
def: "X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." [Orphanet:85338]
subset: gard_rare {source="GARD:19063", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:85338"}
subset: orphanet_rare {source="Orphanet:85338"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19063 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:85338", source="Orphanet:85338/attributed", source="Orphanet:85338/ntbt"}
xref: MEDGEN:930808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85338 {source="MONDO:equivalentTo"}
xref: UMLS:C4305139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930808"}
is_a: MONDO:0016612 {source="Orphanet:85338"} ! X-linked cerebellar ataxia
is_a: MONDO:0020119 {source="Orphanet:85338", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019431
name: primitive portal vein thrombosis
def: "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." [Orphanet:854]
subset: gard_rare {source="GARD:18707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:854"}
subset: ordo_disorder {source="Orphanet:854"}
subset: orphanet_rare {source="Orphanet:854"}
subset: rare
synonym: "non-cirrhotic portal vein thrombosis" EXACT [Orphanet:854]
xref: GARD:18707 {source="MONDO:GARD"}
xref: ICD10CM:I81 {source="Orphanet:854", source="MONDO:relatedTo", source="Orphanet:854/e"}
xref: MedDRA:10036206 {source="Orphanet:854", source="Orphanet:854/e"}
xref: Orphanet:854 {source="MONDO:equivalentTo"}
is_a: MONDO:0005154 ! liver disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare

[Term]
id: MONDO:0019432
name: rheumatoid factor-negative juvenile idiopathic arthritis
def: "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." [Orphanet:85408]
subset: gard_rare {source="GARD:3931", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85408"}
subset: orphanet_rare {source="Orphanet:85408"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile rheumatoid factor-negative polyarthritis" EXACT [Orphanet:85408]
synonym: "polyarthritis without rheumatoid factor" EXACT [Orphanet:85408]
synonym: "rheumatoid factor-negative JIA" EXACT [Orphanet:85408]
xref: EFO:1002020 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3931 {source="MONDO:GARD"}
xref: ICD10CM:M08.3 {source="Orphanet:85408", source="Orphanet:85408/ntbt"}
xref: MEDGEN:855549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85408 {source="MONDO:equivalentTo"}
xref: UMLS:C3890205 {source="MEDGEN:855549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018456 {source="Orphanet:85408"} ! polyarticular juvenile idiopathic arthritis

[Term]
id: MONDO:0019433
name: oligoarticular juvenile idiopathic arthritis
def: "Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases." [Orphanet:85410]
subset: gard_rare {source="GARD:4261", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85410"}
subset: orphanet_rare {source="Orphanet:85410"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Oligoarticular JIA" EXACT [Orphanet:85410]
synonym: "Pauciarticular chronic arthritis" EXACT [Orphanet:85410]
synonym: "Pauciarticular JIA" EXACT [NCIT:C119032]
synonym: "Pauciarticular juvenile idiopathic arthritis" EXACT [NCIT:C119032]
xref: EFO:1002019 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4261 {source="MONDO:GARD"}
xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:85410", source="Orphanet:85410/e"}
xref: icd11.foundation:1990556904 {source="Orphanet:85410", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:443993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536312 {source="MONDO:equivalentTo"}
xref: NANDO:1200471 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201056 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119032 {source="MONDO:equivalentTo"}
xref: Orphanet:85410 {source="MONDO:equivalentTo"}
xref: UMLS:C2931171 {source="MEDGEN:443993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011429 {source="MESH:C536312", source="NCIT:C119032", source="Orphanet:85410"} ! juvenile idiopathic arthritis

[Term]
id: MONDO:0019434
name: systemic-onset juvenile idiopathic arthritis
def: "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." [Orphanet:85414]
subset: gard_rare {source="GARD:10966", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85414"}
subset: orphanet_rare {source="Orphanet:85414"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sJIA" EXACT [NCIT:C119031]
synonym: "SoJIA" EXACT [PMID:23827249]
synonym: "Still disease" EXACT [Orphanet:85414]
synonym: "Still's disease (formerly)" RELATED [GARD:0010966]
synonym: "systemic juvenile idiopathic arthritis" RELATED [GARD:0010966]
synonym: "systemic onset juvenile idiopathic arthritis" RELATED [GARD:0010966]
synonym: "systemic onset juvenile rheumatoid arthritis" RELATED [GARD:0010966]
synonym: "systemic polyarthritis" EXACT [Orphanet:85414]
synonym: "systemic-onset JIA" EXACT [Orphanet:85414]
xref: EFO:1001999 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10966 {source="MONDO:GARD"}
xref: ICD10CM:M08.2 {source="Orphanet:85414", source="Orphanet:85414/e"}
xref: icd11.foundation:504387587 {source="MONDO:equivalentTo", source="Orphanet:85414", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:346934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565798 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"}
xref: NANDO:1200470 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201055 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119031 {source="MONDO:equivalentTo"}
xref: Orphanet:85414 {source="MONDO:equivalentTo"}
xref: SCTID:201796004 {source="MONDO:equivalentTo"}
xref: UMLS:C1858558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346934"}
is_a: MONDO:0011429 {source="NCIT:C119031", source="Orphanet:85414"} ! juvenile idiopathic arthritis
is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis" xsd:anyURI {source="GARD:0010966"}

[Term]
id: MONDO:0019435
name: rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
def: "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor." [NCIT:C119034]
subset: gard_rare {source="GARD:19064", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85435"}
subset: orphanet_rare {source="Orphanet:85435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "juvenile idiopathic rheumatoid factor-positive polyarthritis" EXACT [Orphanet:85435]
synonym: "polyarthritis with rheumatoid factor" EXACT [Orphanet:85435]
synonym: "polyarticular JIA, RF+" EXACT [NCIT:C119034]
synonym: "polyarticular juvenile idiopathic arthritis, RF+" EXACT [NCIT:C119034]
synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive" EXACT [NCIT:C119034]
synonym: "rheumatoid factor-positive polyarticular JIA" EXACT [Orphanet:85435]
xref: EFO:0009731 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19064 {source="MONDO:GARD"}
xref: ICD10CM:M08.0 {source="Orphanet:85435/ntbt", source="Orphanet:85435"}
xref: MEDGEN:855737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201058 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119034 {source="MONDO:equivalentTo"}
xref: Orphanet:85435 {source="MONDO:equivalentTo"}
xref: UMLS:C3890733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:855737"}
is_a: MONDO:0018456 {source="Orphanet:85435"} ! polyarticular juvenile idiopathic arthritis

[Term]
id: MONDO:0019436
name: psoriasis-related juvenile idiopathic arthritis
def: "Childhood arthritis typically associated with psoriasis." [NCIT:P378]
subset: gard_rare {source="GARD:10970", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85436"}
subset: orphanet_rare {source="Orphanet:85436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JPsA" EXACT [NCIT:C114361]
synonym: "juvenile psoriatic arthritis" EXACT [Orphanet:85436]
synonym: "psoriasis-related JIA" EXACT [Orphanet:85436]
xref: EFO:0009733 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10970 {source="MONDO:GARD"}
xref: ICD10EXP:L40.5+ {source="Orphanet:85436", source="Orphanet:85436/ntbt"}
xref: ICD10EXP:M09.0* {source="Orphanet:85436", source="Orphanet:85436/ntbt"}
xref: icd11.foundation:1473955563 {source="MONDO:equivalentTo", source="Orphanet:85436", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:811463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114361 {source="MONDO:equivalentTo"}
xref: Orphanet:85436 {source="MONDO:equivalentTo"}
xref: SCTID:239802003 {source="MONDO:equivalentTo"}
xref: UMLS:C3714758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811463"}
is_a: MONDO:0011429 {source="Orphanet:85436"} ! juvenile idiopathic arthritis
is_a: MONDO:0011849 {source="NCIT:C114361"} ! psoriatic arthritis

[Term]
id: MONDO:0019437
name: enthesitis-related juvenile idiopathic arthritis
def: "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy." [https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis]
subset: gard_rare {source="GARD:10969", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85438"}
subset: ordo_malformation_syndrome {source="Orphanet:85438"}
subset: orphanet_rare {source="Orphanet:85438"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "enthesitis related arthritis, juvenile" RELATED [GARD:0010969]
synonym: "enthesitis-related arthritis" RELATED [GARD:0010969]
synonym: "enthesitis-related JIA" EXACT [Orphanet:85438]
synonym: "era" EXACT [Orphanet:85438]
synonym: "juvenile enthesitis-related arthritis" RELATED [GARD:0010969]
synonym: "juvenile spondylarthropathy" RELATED [GARD:0010969]
xref: EFO:0009732 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10969 {source="MONDO:GARD"}
xref: ICD10CM:M08.8 {source="Orphanet:85438", source="Orphanet:85438/ntbt"}
xref: icd11.foundation:1128255226 {source="MONDO:equivalentTo", source="Orphanet:85438", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:854059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201060 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119024 {source="MONDO:equivalentTo"}
xref: Orphanet:85438 {source="MONDO:equivalentTo"}
xref: SCTID:410801005 {source="MONDO:equivalentTo"}
xref: UMLS:C3495919 {source="MEDGEN:854059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005578 {source="MONDO:Redundant", source="NCIT:C119024"} ! arthritic joint disease
is_a: MONDO:0011429 {source="Orphanet:85438"} ! juvenile idiopathic arthritis
relationship: disease_has_feature MONDO:0024419 ! enthesitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis" xsd:anyURI {source="GARD:0010969"}

[Term]
id: MONDO:0019438
name: AL amyloidosis
def: "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ." [Orphanet:85443]
subset: gard_rare {source="GARD:5797", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85443"}
subset: orphanet_rare {source="Orphanet:85443"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloidosis AL" RELATED [GARD:0005797]
synonym: "amyloidosis primary systemic" RELATED [GARD:0005797]
synonym: "Light chain amyloidosis" RELATED [GARD:0005797]
synonym: "Light-chain amyloidosis" EXACT [Orphanet:85443]
synonym: "primary AL amyloidosis" RELATED [GARD:0005797]
synonym: "primary amyloidosis" EXACT [Orphanet:85443]
synonym: "primary systemic AL amyloidosis" RELATED [GARD:0005797]
synonym: "primary systemic amyloidosis" RELATED [GARD:0005797]
synonym: "systemic AL amyloidsis" RELATED [GARD:0005797]
xref: DOID:0080933 {source="MONDO:equivalentTo"}
xref: GARD:5797 {source="MONDO:GARD"}
xref: ICD10CM:E85.9 {source="Orphanet:85443/ntbt", source="Orphanet:85443", source="Orphanet:85443/index"}
xref: icd11.foundation:113043090 {source="Orphanet:85443", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10036673 {source="Orphanet:85443", source="Orphanet:85443/e"}
xref: MEDGEN:75674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531616 {source="Orphanet:85443", source="MONDO:equivalentTo", source="Orphanet:85443/e"}
xref: NANDO:1200211 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C158963 {source="MONDO:equivalentTo"}
xref: Orphanet:85443 {source="MONDO:equivalentTo"}
xref: UMLS:C0268381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75674"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0016330 {source="Orphanet:85443"} ! non-familial hypertrophic cardiomyopathy
is_a: MONDO:0016345 {source="Orphanet:85443"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0019065 {source="MESH:C531616", source="Orphanet:85443"} ! amyloidosis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85443", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0019439
name: AA amyloidosis
def: "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." [Orphanet:85445]
subset: gard_rare {source="GARD:10560", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85445"}
subset: orphanet_rare {source="Orphanet:85445"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloid A amyloidosis" RELATED [GARD:0010560]
synonym: "amyloidosis AA" RELATED [GARD:0010560]
synonym: "inflammatory amyloidosis" EXACT [Orphanet:85445]
synonym: "reactive amyloidosis" EXACT [Orphanet:85445]
synonym: "secondary amyloidosis" EXACT [Orphanet:85445]
xref: DOID:0080936 {source="MONDO:equivalentTo"}
xref: GARD:10560 {source="MONDO:GARD"}
xref: ICD10CM:E85.3 {source="Orphanet:85445", source="Orphanet:85445/e"}
xref: icd11.foundation:570181034 {source="Orphanet:85445", source="MONDO:equivalentTo"}
xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10039811 {source="Orphanet:85445", source="Orphanet:85445/e"}
xref: MEDGEN:782429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3818 {source="MONDO:equivalentTo"}
xref: Orphanet:85445 {source="MONDO:equivalentTo"}
xref: SCTID:281034005 {source="MONDO:equivalentTo"}
xref: UMLS:C3536715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:782429"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0016345 {source="Orphanet:85445"} ! non-familial restrictive cardiomyopathy
is_a: MONDO:0019065 {source="NCIT:C3818", source="Orphanet:85445"} ! amyloidosis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85445", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa" xsd:anyURI {source="GARD:0010560"}

[Term]
id: MONDO:0019440
name: wild type ABeta2M amyloidosis
subset: gard_rare {source="GARD:19065", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85446"}
subset: orphanet_rare {source="Orphanet:85446"}
subset: rare
synonym: "ABeta2Mwt amyloidosis" EXACT [Orphanet:85446]
synonym: "amyloidosis beta2m" RELATED [GARD:0010563]
synonym: "amyloidosis dialysis-related" RELATED [GARD:0010563]
synonym: "Beta-2-microglobulin amyloidosis" RELATED [GARD:0010563]
synonym: "dialysis-related amyloidosis" EXACT [GARD:0010563, Orphanet:85446]
synonym: "dialysis-related arthropathy" EXACT [Orphanet:85446]
synonym: "DRA" RELATED ABBREVIATION [GARD:0010563]
synonym: "wild type ABeta2-microglobulinic amyloidosis" EXACT [Orphanet:85446]
xref: GARD:19065 {source="MONDO:GARD"}
xref: ICD10CM:E85.3 {source="Orphanet:85446/ntbt", source="Orphanet:85446"}
xref: MEDGEN:78673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85446 {source="MONDO:equivalentTo"}
xref: SCTID:32599008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78673"}
is_a: MONDO:0018590 {source="Orphanet:85446"} ! ABeta2M amyloidosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10563/amyloidosis-beta2m" xsd:anyURI {source="GARD:0010563"}

[Term]
id: MONDO:0019441
name: ATTRV122I amyloidosis
def: "A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." [Orphanet:85451]
subset: gard_rare {source="GARD:16755", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:85451"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATTRV122I-related amyloidosis" EXACT [Orphanet:85451]
xref: GARD:16755 {source="MONDO:GARD"}
xref: ICD10EXP:E85.4+ {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"}
xref: ICD10EXP:I43.1* {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"}
xref: MEDGEN:907865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85451 {source="MONDO:equivalentTo"}
xref: SCTID:715655000 {source="MONDO:equivalentTo"}
xref: UMLS:C4275067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907865"}
is_a: MONDO:0007100 {source="Orphanet:85451"} ! familial amyloid neuropathy
is_a: MONDO:0016340 {source="Orphanet:85451", source="https://orcid.org/0000-0001-5208-3432"} ! familial restrictive cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7330" xsd:anyURI

[Term]
id: MONDO:0019442
name: obsolete congenital toxoplasmosis
is_obsolete: true
replaced_by: MONDO:0005715

[Term]
id: MONDO:0019443
name: dextro-looped transposition of the great arteries
def: "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." [Orphanet:860]
subset: gard_rare {source="GARD:5476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:860"}
subset: ordo_morphological_anomaly {source="Orphanet:860"}
subset: orphanet_rare {source="Orphanet:860"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenitally uncorrected transposition of the great arteries" EXACT [DOID:0060770]
synonym: "congenitally uncorrected transposition of the great vessels" EXACT [DOID:0060770, Orphanet:860]
synonym: "D-TGA" EXACT [DOID:0060770]
synonym: "DTGA" EXACT ABBREVIATION [MONDO:Lexical]
synonym: "isolated ventriculoarterial discordance" EXACT [DOID:0060770, Orphanet:860]
synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [DOID:0060770, Orphanet:860]
xref: DOID:0060770 {source="MONDO:equivalentTo"}
xref: GARD:5476 {source="MONDO:GARD"}
xref: ICD10CM:Q20.3 {source="DOID:0060770", source="Orphanet:860/ntbt", source="Orphanet:860/inclusion", source="Orphanet:860"}
xref: MEDGEN:1812310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200698 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:608808 {source="DOID:0060770", source="MONDO:equivalentObsolete"}
xref: Orphanet:860 {source="DOID:0060770", source="MONDO:equivalentTo"}
xref: UMLS:C5671327 {source="MEDGEN:1812310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000153 {source="MONDO:Redundant", source="Orphanet:860"} ! transposition of the great arteries
is_a: MONDO:0005453 {source="DOID:0060770"} ! congenital heart disease
intersection_of: MONDO:0000153 ! transposition of the great arteries
intersection_of: disease_has_feature HP:0031348 ! Dextrotransposition of the great arteries
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608808"} ! inherited

[Term]
id: MONDO:0019444
name: trichinellosis
def: "A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur." [Orphanet:863]
subset: gard_rare {source="GARD:5250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:863"}
subset: orphanet_rare {source="Orphanet:863"}
subset: rare
synonym: "Human trichinellosis" RELATED [GARD:0005250]
synonym: "infection with Trichinella" RELATED [GARD:0005250]
synonym: "Trichinella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichinella disease or disorder" EXACT []
synonym: "Trichinella infectious disease" EXACT []
synonym: "Trichinella spiralis infection" NARROW [DOID:9784]
synonym: "trichiniasis" RELATED [GARD:0005250]
synonym: "trichinosis" EXACT [MONDO:0005992, Orphanet:863]
xref: DOID:9784 {source="MONDO:equivalentTo", source="EFO:0007520"}
xref: GARD:5250 {source="MONDO:GARD"}
xref: ICD10CM:B75 {source="Orphanet:863", source="MONDO:equivalentTo", source="Orphanet:863/e", source="DOID:9784"}
xref: icd11.foundation:284613639 {source="Orphanet:863", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:124 {source="DOID:9784"}
xref: MedDRA:10044608 {source="Orphanet:863", source="Orphanet:863/e"}
xref: MEDGEN:21645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014235 {source="Orphanet:863", source="MONDO:equivalentTo", source="Orphanet:863/e", source="DOID:9784", source="EFO:0007520"}
xref: NCIT:C85199 {source="MONDO:equivalentTo", source="DOID:9784"}
xref: Orphanet:863 {source="MONDO:equivalentTo"}
xref: SCTID:154415009 {source="DOID:9784"}
xref: SCTID:266222003 {source="DOID:9784"}
xref: SCTID:709018004 {source="MONDO:equivalentTo", source="DOID:9784"}
xref: SCTID:88264003 {source="MONDO:relatedTo", source="DOID:9784"}
xref: UMLS:C0040896 {source="MEDGEN:21645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="DOID:9784"} ! helminthiasis
is_a: MONDO:0005135 {source="DOID:9784/inferred", source="EFO:0007520", source="MONDO:Redundant", source="NCIT:C85199", source="Orphanet:863"} ! parasitic infectious disease
is_a: MONDO:0016128 {source="Orphanet:863"} ! parasitic myositis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6333 ! Trichinella
relationship: disease_has_feature HP:0001880 {source="MONDO:Wikidata"} ! Eosinophilia
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_infectious_agent NCBITaxon:6333 {source="MONDO:Wikidata"} ! Trichinella
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4225" xsd:anyURI

[Term]
id: MONDO:0019445
name: trichofolliculoma
def: "Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair." [Orphanet:864]
subset: gard_rare {source="GARD:5263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:864"}
subset: orphanet_rare {source="Orphanet:864"}
subset: rare
xref: GARD:5263 {source="MONDO:GARD"}
xref: ICDO:8101/0 {source="NCIT:C4112"}
xref: MedDRA:10044611 {source="Orphanet:864", source="Orphanet:864/e"}
xref: MEDGEN:87202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536553 {source="Orphanet:864", source="MONDO:equivalentTo", source="Orphanet:864/e"}
xref: NCIT:C4112 {source="MONDO:equivalentTo"}
xref: Orphanet:864 {source="MONDO:equivalentTo"}
xref: SCTID:274899008 {source="MONDO:equivalentTo"}
xref: UMLS:C0334262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87202"}
is_a: MONDO:0021539 {source="NCIT:C4112"} ! hamartoma of skin appendage
relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:864", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma" xsd:anyURI {source="GARD:0005263"}

[Term]
id: MONDO:0019446
name: localized lichen myxedematosus
def: "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis." [Orphanet:86795]
subset: disease_grouping
subset: gard_rare {source="GARD:7321", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:86795"}
subset: rare
synonym: "papular mucinosis" EXACT [Orphanet:86795]
xref: GARD:7321 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:86795", source="Orphanet:86795/ntbt"}
xref: icd11.foundation:15830032 {source="Orphanet:86795", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1802421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86795 {source="MONDO:equivalentTo"}
xref: UMLS:C5575846 {source="MEDGEN:1802421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018432 {source="MONDO:Redundant", source="Orphanet:86795"} ! lichen myxedematosus
intersection_of: MONDO:0018432 ! lichen myxedematosus
intersection_of: has_characteristic PATO:0000627 ! localized

[Term]
id: MONDO:0019447
name: atypical lichen myxedematosus
def: "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported." [Orphanet:86797]
subset: gard_rare {source="GARD:19066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86797"}
subset: orphanet_rare {source="Orphanet:86797"}
subset: rare
synonym: "Intermediate lichen myxedematosus" EXACT [Orphanet:86797]
xref: GARD:19066 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:86797", source="Orphanet:86797/ntbt"}
xref: MEDGEN:1383234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86797 {source="MONDO:equivalentTo"}
xref: SCTID:725148000 {source="MONDO:equivalentTo"}
xref: UMLS:C4510874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1383234"}
is_a: MONDO:0018432 {source="Orphanet:86797"} ! lichen myxedematosus

[Term]
id: MONDO:0019448
name: benign adult familial myoclonic epilepsy
def: "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." [Orphanet:86814]
subset: gard_rare {source="GARD:16758", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86814"}
subset: orphanet_rare {source="Orphanet:86814"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADCME" EXACT ABBREVIATION [Orphanet:86814]
synonym: "autosomal dominant cortical myoclonus and epilepsy" EXACT [Orphanet:86814]
synonym: "BAFME" EXACT ABBREVIATION [Orphanet:86814]
synonym: "benign adult familial myoclonus epilepsy" EXACT [Orphanet:86814]
synonym: "FAME" EXACT ABBREVIATION [Orphanet:86814]
synonym: "familial adult myoclonic epilepsy" EXACT [Orphanet:86814]
synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [Orphanet:86814]
synonym: "FCMTE" EXACT ABBREVIATION [Orphanet:86814]
xref: GARD:16758 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:86814", source="Orphanet:86814/attributed", source="Orphanet:86814/ntbt"}
xref: icd11.foundation:1036649329 {source="MONDO:equivalentTo", source="Orphanet:86814", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:908684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200956 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:86814 {source="MONDO:equivalentTo"}
xref: SCTID:717225001 {source="MONDO:equivalentTo"}
xref: UMLS:C4273988 {source="MONDO:equivalentTo", source="MEDGEN:908684", source="MONDO:MEDGEN"}
is_a: MONDO:0000160 {source="https://github.com/monarch-initiative/mondo/issues/2786", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, familial adult myoclonic
is_a: MONDO:0020073 {source="DOID:0111689", source="Orphanet:86814"} ! adolescent-onset epilepsy syndrome

[Term]
id: MONDO:0019449
name: lissencephaly type 3-familial fetal akinesia sequence syndrome
def: "Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia." [Orphanet:86821]
subset: gard_rare {source="GARD:19067", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86821"}
subset: ordo_malformation_syndrome {source="Orphanet:86821"}
subset: orphanet_rare {source="Orphanet:86821"}
subset: rare
xref: GARD:19067 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:86821/attributed", source="Orphanet:86821/ntbt", source="Orphanet:86821"}
xref: MEDGEN:930924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86821 {source="MONDO:equivalentTo"}
xref: SCTID:718719001 {source="MONDO:equivalentTo"}
xref: UMLS:C4305255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930924"}
is_a: MONDO:0015148 {source="Orphanet:86821"} ! lissencephaly type 3

[Term]
id: MONDO:0019450
name: lissencephaly with cerebellar hypoplasia
def: "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." [Orphanet:86823]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:86823"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LCH" EXACT ABBREVIATION [Orphanet:86823]
xref: GARD:19068 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:86823", source="Orphanet:86823/attributed", source="Orphanet:86823/ntbt"}
xref: MEDGEN:905529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86823 {source="MONDO:equivalentTo"}
xref: SCTID:715817007 {source="MONDO:equivalentTo"}
xref: UMLS:C4274995 {source="MEDGEN:905529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018838 {source="Orphanet:86823"} ! lissencephaly spectrum disorders

[Term]
id: MONDO:0019451
name: chronic neutrophilic leukemia
def: "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." [NCIT:C3179]
subset: gard_rare {source="GARD:10585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86829"}
subset: orphanet_rare {source="Orphanet:86829"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic neutrophilic leukemia" EXACT [NCIT:C3179]
synonym: "CNL" RELATED ABBREVIATION [GARD:0010585, ONCOTREE:CNL]
synonym: "neutrophilic leukaemia" EXACT OMO:0003005 []
synonym: "neutrophilic leukemia" EXACT [NCIT:C3179]
xref: DOID:0080187 {source="MONDO:equivalentTo"}
xref: EFO:1000179 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10585 {source="MONDO:GARD"}
xref: ICD10CM:D47.1 {source="Orphanet:86829/ntbt", source="Orphanet:86829"}
xref: icd11.foundation:426734182 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:86829"}
xref: ICDO:9963/3 {source="NCIT:C3179"}
xref: MEDGEN:6061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015467 {source="Orphanet:86829/e", source="MONDO:equivalentTo", source="Orphanet:86829"}
xref: NCIT:C3179 {source="DOID:0080187", source="EFO:1000179", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:CNL {source="MONDO:equivalentTo"}
xref: Orphanet:86829 {source="MONDO:equivalentTo"}
xref: SCTID:188734009 {source="MONDO:equivalentTo"}
xref: UMLS:C0023481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6061"}
is_a: MONDO:0001014 {source="DOID:0080187", source="NCIT:C3179"} ! chronic leukemia
is_a: MONDO:0020076 {source="MONDO:Redundant", source="NCIT:C3179", source="ONCOTREE:CNL", source="Orphanet:86829"} ! myeloproliferative neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia" xsd:anyURI {source="GARD:0010585"}

[Term]
id: MONDO:0019452
name: myeloproliferative neoplasm, unclassifiable
def: "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms." [NCIT:C27350]
subset: gard_rare {source="GARD:16764", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86830"}
subset: orphanet_rare {source="Orphanet:86830"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic myeloproliferative disease, unclassifiable" EXACT [NCIT:C27350]
synonym: "chronic myeloproliferative disorder, unclassifiable" EXACT [NCIT:C27350]
synonym: "CMPD, U" EXACT [NCIT:C27350]
synonym: "CMPD-U" EXACT [NCIT:C27350, Orphanet:86830]
synonym: "MPN, U" EXACT [NCIT:C27350]
synonym: "MPN-U" EXACT [NCIT:C27350]
synonym: "myeloproliferative neoplasm, unclassifiable" EXACT [NCIT:C27350]
synonym: "unclassifiable chronic myeloproliferative disease" EXACT [NCIT:C27350]
synonym: "unclassifiable chronic myeloproliferative disorder" EXACT [NCIT:C27350]
synonym: "undifferentiated myeloproliferative disease" EXACT [Orphanet:86830]
xref: GARD:16764 {source="MONDO:GARD"}
xref: ICD10CM:D47.1 {source="Orphanet:86830", source="Orphanet:86830/ntbt"}
xref: ICDO:9975/3 {source="NCIT:C27350"}
xref: MEDGEN:232365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27350 {source="MONDO:equivalentTo"}
xref: Orphanet:86830 {source="MONDO:equivalentTo"}
xref: UMLS:C1333046 {source="MONDO:equivalentTo", source="MEDGEN:232365", source="MONDO:MEDGEN"}
is_a: MONDO:0020076 {source="NCIT:C27350", source="Orphanet:86830"} ! myeloproliferative neoplasm

[Term]
id: MONDO:0019453
name: myelodysplastic syndrome with multilineage dysplasia
def: "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages." [Orphanet:86836]
subset: disease_grouping
subset: gard_rare {source="GARD:19069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:86836"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDS-MLD" EXACT [NCIT:C8574]
synonym: "RCMD" EXACT ABBREVIATION [NCIT:C8574]
synonym: "refractory cytopenia with multilineage dysplasia" EXACT [NCIT:C8574]
xref: GARD:19069 {source="MONDO:GARD"}
xref: ICD10CM:D46.A {source="MONDO:equivalentTo"}
xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9985/3 {source="NCIT:C8574"}
xref: MedDRA:10067959 {source="Orphanet:86836", source="Orphanet:86836/e"}
xref: MEDGEN:208726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8574 {source="MONDO:equivalentTo"}
xref: Orphanet:86836 {source="MONDO:equivalentTo"}
xref: SCTID:415285009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796466 {source="MONDO:equivalentTo", source="MEDGEN:208726", source="MONDO:MEDGEN"}
is_a: MONDO:0018881 {source="NCIT:C8574", source="Orphanet:86836"} ! myelodysplastic syndrome
relationship: has_characteristic HP:0031375 ! Refractory
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI

[Term]
id: MONDO:0019454
name: myelodysplastic syndrome with excess blasts
def: "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2." [NCIT:C7506]
subset: gard_rare {source="GARD:19070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86839"}
subset: orphanet_rare {source="Orphanet:86839"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDS-EB" EXACT [NCIT:C7506]
synonym: "myelodysplastic syndrome with Excess blasts" EXACT [NCIT:C7506]
synonym: "RAEB" EXACT ABBREVIATION [NCIT:C7506]
synonym: "refractory Anaemia with an Excess of blasts" EXACT OMO:0003005 []
synonym: "refractory Anaemia with Excess blasts" EXACT OMO:0003005 []
synonym: "refractory Anemia with an Excess of blasts" EXACT [NCIT:C7506]
synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506]
xref: EFO:0003811 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19070 {source="MONDO:GARD"}
xref: ICD10CM:D46.2 {source="Orphanet:86839/ntbt", source="Orphanet:86839"}
xref: ICDO:9983/3 {source="NCIT:C7506"}
xref: MedDRA:10038270 {source="Orphanet:86839/e", source="Orphanet:86839"}
xref: MEDGEN:8066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000754 {source="Orphanet:86839/e", source="MONDO:equivalentTo", source="Orphanet:86839"}
xref: NCIT:C7506 {source="MONDO:equivalentTo", source="EFO:0003811"}
xref: Orphanet:86839 {source="MONDO:equivalentTo"}
xref: SCTID:128847002 {source="EFO:0003811"}
xref: SCTID:398623004 {source="MONDO:equivalentTo"}
xref: UMLS:C0002894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8066"}
is_a: MONDO:0018881 {source="EFO:0003811", source="NCIT:C7506", source="Orphanet:86839"} ! myelodysplastic syndrome
relationship: disease_arises_from_structure CL:0000049 {source="NCIT:C7506"} ! common myeloid progenitor
relationship: disease_has_feature MONDO:0002049 {source="NCIT:C7506"} ! thrombocytopenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5268" xsd:anyURI

[Term]
id: MONDO:0019455
name: acute panmyelosis with myelofibrosis
def: "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis." [NCIT:P378]
subset: gard_rare {source="GARD:11907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86843"}
subset: orphanet_rare {source="Orphanet:86843"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute (malignant) myelofibrosis" EXACT [NCIT:C4344]
synonym: "acute (malignant) myelosclerosis" EXACT [NCIT:C4344]
synonym: "acute myelodysplasia with myelofibrosis" EXACT [Orphanet:86843]
synonym: "acute myelofibrosis" EXACT [Orphanet:86843]
synonym: "acute myelosclerosis" EXACT [Orphanet:86843]
synonym: "acute panmyelosis" EXACT [NCIT:C4344]
synonym: "APMF" EXACT ABBREVIATION [NCIT:C4344, ONCOTREE:APMF]
xref: GARD:11907 {source="MONDO:GARD"}
xref: ICD10CM:C94.4 {source="Orphanet:86843", source="Orphanet:86843/e"}
xref: icd11.foundation:585339631 {source="Orphanet:86843", source="MONDO:equivalentTo"}
xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9931/3 {source="NCIT:C4344"}
xref: MedDRA:10000879 {source="Orphanet:86843", source="Orphanet:86843/e"}
xref: MEDGEN:87279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4344 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:APMF {source="MONDO:equivalentTo"}
xref: Orphanet:86843 {source="MONDO:equivalentTo"}
xref: SCTID:109991003 {source="MONDO:equivalentTo"}
xref: UMLS:C0334674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87279"}
is_a: MONDO:0015667 {source="Orphanet:86843"} ! acute myeloid leukemia by FAB classification
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis" xsd:anyURI {source="GARD:0011907"}

[Term]
id: MONDO:0019456
name: acute myeloid leukemia with multilineage dysplasia
def: "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." [NCIT:P378]
subset: gard_rare {source="GARD:12761", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86845"}
subset: orphanet_rare {source="Orphanet:86845"}
subset: rare
synonym: "acute myeloid leukaemia with myelodysplasia-related features" RELATED OMO:0003005 []
synonym: "acute myeloid leukemia with myelodysplasia-related features" RELATED [Orphanet:86845]
synonym: "AML with multilineage dysplasia" EXACT [Orphanet:86845]
synonym: "AML with myelodysplasia-related features" EXACT [Orphanet:86845]
synonym: "De novo acute myeloid leukaemia with multilineage dysplasia" EXACT OMO:0003005 []
synonym: "De novo acute myeloid leukemia with multilineage dysplasia" EXACT [NCIT:C9289]
xref: GARD:12761 {source="MONDO:GARD"}
xref: icd11.foundation:1235412948 {source="MONDO:equivalentTo", source="Orphanet:86845", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9895/3 {source="NCIT:C9289"}
xref: MEDGEN:224861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9289 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:86845 {source="MONDO:equivalentTo"}
xref: SCTID:445448008 {source="MONDO:equivalentTo"}
xref: UMLS:C1292773 {source="MEDGEN:224861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="NCIT:C9289"} ! acute myeloid leukemia
relationship: excluded_subClassOf MONDO:0011118 {source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019457
name: therapy related acute myeloid leukemia and myelodysplastic syndrome
def: "An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)" [NCIT:C25765]
subset: disease_grouping
subset: gard_rare {source="GARD:12762", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:86846"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Secondary Acute granulocytic Leukaemia" EXACT OMO:0003005 []
synonym: "Secondary Acute granulocytic Leukemia" EXACT [NCIT:C25765]
synonym: "Secondary Acute myeloblastic Leukaemia" EXACT OMO:0003005 []
synonym: "Secondary Acute myeloblastic Leukemia" EXACT [NCIT:C25765]
synonym: "Secondary Acute myelocytic Leukaemia" EXACT OMO:0003005 []
synonym: "Secondary Acute myelocytic Leukemia" EXACT [NCIT:C25765]
synonym: "Secondary Acute myelogenous Leukaemia" EXACT OMO:0003005 []
synonym: "Secondary Acute myelogenous Leukemia" EXACT [NCIT:C25765]
synonym: "secondary acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "Secondary Acute myeloid Leukaemia (AML)" EXACT OMO:0003005 []
synonym: "secondary acute myeloid leukemia" EXACT [Orphanet:86846]
synonym: "Secondary Acute myeloid Leukemia (AML)" EXACT [NCIT:C25765]
synonym: "Secondary AGL" EXACT [NCIT:C25765]
synonym: "secondary AML" EXACT [Orphanet:86846]
synonym: "therapy-related AML and myelodysplastic syndrome" EXACT [Orphanet:86846]
xref: GARD:12762 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:86846", source="Orphanet:86846/ntbt"}
xref: icd11.foundation:1581599493 {source="MONDO:equivalentTo", source="Orphanet:86846", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:220954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C25765 {source="MONDO:equivalentTo"}
xref: Orphanet:86846 {source="MONDO:equivalentTo"}
xref: SCTID:721306009 {source="MONDO:equivalentTo"}
xref: UMLS:C1292776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220954"}
is_a: MONDO:0018874 {source="NCIT:C25765", source="Orphanet:86846"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome" xsd:anyURI {source="GARD:0012762"}

[Term]
id: MONDO:0019458
name: acute basophilic leukemia
def: "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." [NCIT:C3164]
subset: gard_rare {source="GARD:19071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86849"}
subset: orphanet_rare {source="Orphanet:86849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basophilic leukaemia" EXACT OMO:0003005 []
synonym: "basophilic leukemia" EXACT [NCIT:C3164]
synonym: "leukaemia basophilic" EXACT OMO:0003005 []
synonym: "leukemia basophilic" EXACT [NCIT:C3164]
xref: DOID:0080795 {source="MONDO:equivalentTo"}
xref: EFO:0003029 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19071 {source="MONDO:GARD"}
xref: icd11.foundation:1632520399 {source="MONDO:equivalentTo", source="Orphanet:86849", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9870/3 {source="NCIT:C3164"}
xref: MEDGEN:7314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015471 {source="Orphanet:86849/e", source="MONDO:equivalentTo", source="Orphanet:86849"}
xref: NCIT:C3164 {source="EFO:0003029", source="MONDO:equivalentTo"}
xref: ONCOTREE:ABL {source="MONDO:equivalentTo"}
xref: Orphanet:86849 {source="MONDO:equivalentTo"}
xref: SCTID:307592006 {source="MONDO:equivalentTo"}
xref: SCTID:69077002 {source="EFO:0003029"}
xref: UMLS:C0023437 {source="MEDGEN:7314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015667 {source="NCIT:C27753"} ! acute myeloid leukemia by FAB classification
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003029", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019459
name: obsolete myeloid sarcoma
is_obsolete: true
replaced_by: MONDO:0006861

[Term]
id: MONDO:0019460
name: acute leukemia of ambiguous lineage
def: "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" [NCIT:C7464]
subset: disease_grouping
subset: gard_rare {source="GARD:8638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:86851"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute leukaemia of indeterminate lineage" EXACT OMO:0003005 []
synonym: "acute leukaemia of undetermined lineage" RELATED OMO:0003005 []
synonym: "acute leukemia of ambiguous lineage" EXACT [NCIT:C7464]
synonym: "acute leukemia of indeterminate lineage" EXACT [NCIT:C7464, Orphanet:86851]
synonym: "acute leukemia of undetermined lineage" RELATED [GARD:0008638]
synonym: "ALL with myeloid markers" RELATED [GARD:0008638]
synonym: "AML with lymphoid markers" RELATED [GARD:0008638]
synonym: "BAL" RELATED ABBREVIATION [GARD:0008638]
synonym: "biphenotypic acute leukaemia" RELATED OMO:0003005 []
synonym: "biphenotypic acute leukemia" RELATED [GARD:0008638]
synonym: "hybrid acute leukaemia" EXACT OMO:0003005 []
synonym: "hybrid acute leukemia" EXACT [Orphanet:86851]
synonym: "mixed lineage acute leukaemia" EXACT OMO:0003005 []
synonym: "mixed lineage acute leukemia" EXACT [Orphanet:86851]
synonym: "mixed phenotype acute leukaemia" RELATED OMO:0003005 []
synonym: "mixed phenotype acute leukemia" RELATED [Orphanet:86851]
xref: GARD:8638 {source="MONDO:GARD"}
xref: ICD10CM:C95.0 {source="Orphanet:86851/ntbt", source="Orphanet:86851"}
xref: icd11.foundation:1062906118 {source="Orphanet:86851", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10067399 {source="Orphanet:86851", source="Orphanet:86851/e"}
xref: MEDGEN:226983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015456 {source="Orphanet:86851", source="Orphanet:86851/e"}
xref: NANDO:2200017 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200018 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7464 {source="MONDO:equivalentTo", source="MONDO:0021040"}
xref: Orphanet:86851 {source="MONDO:equivalentTo"}
xref: SCTID:721308005 {source="MONDO:equivalentTo"}
xref: UMLS:C1301357 {source="MEDGEN:226983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="Orphanet:86851"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019461
name: B-cell prolymphocytic leukemia
def: "A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly." [MESH:D054403]
subset: gard_rare {source="GARD:8223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86852"}
subset: orphanet_rare {source="Orphanet:86852"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B prolymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "B prolymphocytic leukemia" EXACT [NCIT:C4753]
synonym: "B-cell prolymphocytic leukemia" EXACT [MONDO:0006099, NCIT:C4753]
synonym: "B-PLL" EXACT [Orphanet:86852]
synonym: "BPLL" RELATED ABBREVIATION [ONCOTREE:BPLL]
xref: DOID:0081041 {source="MONDO:equivalentTo"}
xref: EFO:1000102 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8223 {source="MONDO:GARD"}
xref: ICD10CM:C91.3 {source="Orphanet:86852", source="Orphanet:86852/ntbt"}
xref: icd11.foundation:1997215876 {source="Orphanet:86852", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9833/3 {source="NCIT:C4753"}
xref: MEDGEN:105396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054403 {source="Orphanet:86852", source="MONDO:equivalentTo", source="Orphanet:86852/e"}
xref: NCIT:C4753 {source="EFO:1000102", source="MONDO:equivalentTo"}
xref: ONCOTREE:BPLL {source="MONDO:equivalentTo"}
xref: Orphanet:86852 {source="MONDO:equivalentTo"}
xref: SCTID:277619001 {source="MONDO:equivalentTo"}
xref: UMLS:C0475801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105396"}
is_a: MONDO:0001023 {source="MESH:D054403", source="NCIT:C4753"} ! prolymphocytic leukemia
is_a: MONDO:0004949 {source="NCIT:C4753", source="ONCOTREE:BPLL"} ! neoplasm of mature B-cells
is_a: MONDO:0005402 {source="EFO:1000102", source="MESH:D054403/inferred", source="MONDO:Redundant", source="NCIT:C4753/inferred"} ! lymphoid leukemia
is_a: MONDO:0017595 {source="Orphanet:86852"} ! aggressive B-cell non-Hodgkin lymphoma
relationship: disease_has_location CL:0000236 ! B cell
relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage

[Term]
id: MONDO:0019462
name: splenic marginal zone lymphoma
def: "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated." [Orphanet:86854]
subset: gard_rare {source="GARD:19072", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86854"}
subset: orphanet_rare {source="Orphanet:86854"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "marginal zone lymphoma of spleen" EXACT [NCIT:C4663]
synonym: "marginal zone lymphoma of the spleen" EXACT [NCIT:C4663]
synonym: "SLVL" EXACT ABBREVIATION [NCIT:C4663]
synonym: "SMZL" EXACT ABBREVIATION [NCIT:C4663, ONCOTREE:SMZL, Orphanet:86854]
synonym: "splenic lymphoma with circulating villous lymphocytes" EXACT [NCIT:C4663]
synonym: "splenic marginal zone B-cell lymphoma" EXACT [NCIT:C4663]
synonym: "splenic marginal zone B-cell lymphoma with villous lymphocytes" EXACT [NCIT:C4663]
synonym: "splenic marginal zone lymphoma" EXACT [MONDO:0006431, NCIT:C4663]
synonym: "splenic marginal zone lymphoma with villous lymphocytes" EXACT [NCIT:C4663]
xref: DOID:0050750 {source="MONDO:equivalentTo"}
xref: EFO:1000550 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19072 {source="MONDO:GARD"}
xref: ICD10CM:C83.0 {source="Orphanet:86854/ntbt", source="Orphanet:86854"}
xref: ICDO:9689/3 {source="NCIT:C4663"}
xref: MedDRA:10062113 {source="Orphanet:86854", source="Orphanet:86854/e"}
xref: MEDGEN:138108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4663 {source="EFO:1000550", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:SMZL {source="MONDO:equivalentTo"}
xref: Orphanet:86854 {source="MONDO:equivalentTo"}
xref: SCTID:763666008 {source="MONDO:equivalentTo"}
xref: UMLS:C0349632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138108"}
is_a: MONDO:0017604 {source="DOID:0050750", source="EFO:1000550", source="NCIT:C4663", source="ONCOTREE:SMZL", source="Orphanet:86854"} ! marginal zone lymphoma

[Term]
id: MONDO:0019463
name: non-amyloid monoclonal immunoglobulin deposition disease
subset: gard_rare {source="GARD:19073", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86861"}
subset: orphanet_rare {source="Orphanet:86861"}
subset: rare
synonym: "non-amyloid MIDD" EXACT [Orphanet:86861]
synonym: "Randall disease" EXACT [Orphanet:86861]
xref: GARD:19073 {source="MONDO:GARD"}
xref: ICD10CM:D89.8 {source="Orphanet:86861", source="Orphanet:86861/ntbt"}
xref: MEDGEN:1716147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86861 {source="MONDO:equivalentTo"}
xref: UMLS:C5394673 {source="MEDGEN:1716147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004959 {source="Orphanet:86861"} ! plasma cell neoplasm
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:86861", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0019464
name: heavy chain disease
def: "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." [Orphanet:86864]
subset: gard_rare {source="GARD:19074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86864"}
subset: orphanet_rare {source="Orphanet:86864"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HCD" EXACT ABBREVIATION [NCIT:C3082, Orphanet:86864]
synonym: "heavy chain disease" EXACT [NCIT:C3082]
xref: DOID:0060125 {source="MONDO:equivalentTo"}
xref: EFO:1001341 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19074 {source="MONDO:GARD"}
xref: ICD10CM:C88.2 {source="Orphanet:86864/btnt", source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo"}
xref: ICD10CM:C88.3 {source="Orphanet:86864/btnt", source="MONDO:relatedTo", source="Orphanet:86864"}
xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9762/3 {source="NCIT:C3082"}
xref: MedDRA:10019350 {source="Orphanet:86864", source="Orphanet:86864/e"}
xref: MEDGEN:5469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006362 {source="DOID:0060125", source="Orphanet:86864", source="MONDO:equivalentTo", source="Orphanet:86864/e"}
xref: NCIT:C3082 {source="DOID:0060125", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NCIT:C3083 {source="DOID:0060125"}
xref: NCIT:C3892 {source="DOID:0060125"}
xref: Orphanet:86864 {source="MONDO:equivalentTo"}
xref: SCTID:109984001 {source="DOID:0060125"}
xref: SCTID:123062004 {source="DOID:0060125"}
xref: SCTID:190011009 {source="DOID:0060125"}
xref: SCTID:190820001 {source="DOID:0060125"}
xref: SCTID:5440009 {source="DOID:0060125"}
xref: SCTID:61493004 {source="DOID:0060125"}
xref: SCTID:6381009 {source="DOID:0060125"}
xref: SCTID:68979007 {source="DOID:0060125", source="MONDO:equivalentTo"}
xref: UMLS:C0018852 {source="MEDGEN:5469", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004959 {source="Orphanet:86864"} ! plasma cell neoplasm
relationship: excluded_subClassOf MONDO:0002459 {source="DOID:0060125", source="https://orcid.org/0000-0001-5208-3432"} ! type IV hypersensitivity disease

[Term]
id: MONDO:0019465
name: nodal marginal zone B-cell lymphoma
def: "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported." [Orphanet:86867]
subset: gard_rare {source="GARD:19075", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86867"}
subset: orphanet_rare {source="Orphanet:86867"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Monocytoid B-cell lymphoma" EXACT [NCIT:C8863]
synonym: "NMZL" EXACT ABBREVIATION [ONCOTREE:NMZL, Orphanet:86867]
synonym: "nodal marginal zone B-cell lymph." EXACT [NCIT:C8863]
synonym: "nodal marginal zone B-cell lymphoma" EXACT [NCIT:C8863]
synonym: "nodal marginal zone lymphoma" EXACT [NCIT:C8863]
xref: DOID:0080211 {source="MONDO:equivalentTo"}
xref: GARD:19075 {source="MONDO:GARD"}
xref: ICD10CM:C83.0 {source="Orphanet:86867", source="Orphanet:86867/ntbt"}
xref: icd11.foundation:1720785883 {source="MONDO:equivalentTo", source="Orphanet:86867", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10029460 {source="Orphanet:86867", source="Orphanet:86867/e"}
xref: MEDGEN:208959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8863 {source="DOID:0080211", source="MONDO:equivalentTo"}
xref: ONCOTREE:NMZL {source="MONDO:equivalentTo"}
xref: Orphanet:86867 {source="MONDO:equivalentTo"}
xref: SCTID:277623009 {source="MONDO:equivalentTo"}
xref: UMLS:C0855139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208959"}
is_a: MONDO:0017604 {source="DOID:0080211", source="NCIT:C8863", source="ONCOTREE:NMZL", source="Orphanet:86867"} ! marginal zone lymphoma

[Term]
id: MONDO:0019466
name: lymphomatoid granulomatosis
def: "Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever." [Orphanet:86869]
subset: gard_rare {source="GARD:6943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1385"}
subset: ordo_disorder {source="Orphanet:86869"}
subset: orphanet_rare {source="Orphanet:86869"}
subset: rare
synonym: "LYG" EXACT ABBREVIATION [ONCOTREE:LYG, Orphanet:86869]
xref: DOID:0081307 {source="MONDO:equivalentTo"}
xref: GARD:6943 {source="MONDO:GARD"}
xref: ICD10CM:C83.8 {source="Orphanet:86869", source="Orphanet:86869/ntbt"}
xref: icd11.foundation:1890408959 {source="MONDO:equivalentTo", source="Orphanet:86869"}
xref: ICDO:9766/1 {source="NCIT:C7930"}
xref: MedDRA:10025325 {source="Orphanet:86869", source="Orphanet:86869/e"}
xref: MEDGEN:6161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008230 {source="MONDO:equivalentTo", source="Orphanet:86869", source="Orphanet:86869/e"}
xref: NCIT:C7930 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1385 {source="MONDO:NORD"}
xref: ONCOTREE:LYG {source="MONDO:equivalentTo"}
xref: Orphanet:86869 {source="MONDO:equivalentTo"}
xref: SCTID:239940004 {source="MONDO:equivalentTo"}
xref: UMLS:C0024307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6161"}
is_a: MONDO:0017343 {source="Orphanet:86869"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
is_a: MONDO:0018905 {source="Orphanet:86869"} ! diffuse large B-cell lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis" xsd:anyURI {source="GARD:0006943"}

[Term]
id: MONDO:0019467
name: CD4+/CD56+ hematodermic neoplasm
def: "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement." [NCIT:C7203]
subset: gard_rare {source="GARD:10556", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86870"}
subset: orphanet_rare {source="Orphanet:86870"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "agranular CD4+ CD56+ hematodermic neoplasm/tumor" EXACT [NCIT:C7203]
synonym: "agranular CD4+ natural Killer cell leukaemia" EXACT OMO:0003005 []
synonym: "agranular CD4+ natural Killer cell leukemia" EXACT [NCIT:C7203]
synonym: "blastic natural Killer leukemia/lymphoma" EXACT [NCIT:C7203]
synonym: "blastic NK-cell lymphoma" EXACT [NCIT:C7203, Orphanet:86870]
synonym: "blastic plasmacytoid dendritic cell" RELATED [GARD:0010556]
synonym: "blastic plasmacytoid Dendritic cell neoplasm" EXACT [NCIT:C7203]
synonym: "blastic plasmacytoid dendritic cell neoplasm" EXACT [Orphanet:86870]
synonym: "BPDCN" EXACT ABBREVIATION [Orphanet:86870]
synonym: "CD4+/CD56+ hematodermic neoplasm" EXACT [GARD:0010556, NCIT:C7203]
synonym: "early plasmacytoid Dendritic cell leukemia/lymphoma" EXACT [NCIT:C7203]
synonym: "lymphoblastoid variant of NK-cell lymphoma" EXACT [GARD:0010556, Orphanet:86870]
synonym: "monomorphic NK-cell lymphoma" EXACT [GARD:0010556, NCIT:C7203, Orphanet:86870]
synonym: "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm" EXACT [NCIT:C7203]
xref: DOID:0081076 {source="MONDO:equivalentTo"}
xref: EFO:0010580 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10556 {source="MONDO:GARD"}
xref: ICD10CM:C86.4 {source="Orphanet:86870/e", source="Orphanet:86870"}
xref: icd11.foundation:783045723 {source="MONDO:equivalentTo", source="Orphanet:86870", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9727/3 {source="NCIT:C7203"}
xref: MEDGEN:220972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7203 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BPDCN {source="MONDO:equivalentTo"}
xref: Orphanet:86870 {source="MONDO:equivalentTo", source="GARD:0010556"}
xref: SCTID:445105005 {source="MONDO:equivalentTo"}
xref: UMLS:C1301363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220972"}
is_a: MONDO:0002898 {source="NCIT:C7203"} ! skin cancer
is_a: MONDO:0005170 {source="NCIT:C7203", source="ONCOTREE:BPDCN/inferred"} ! myeloid neoplasm
is_a: MONDO:0015760 {source="Orphanet:86870"} ! T-cell non-Hodgkin lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell" xsd:anyURI {source="GARD:0010556"}

[Term]
id: MONDO:0019468
name: T-cell prolymphocytic leukemia
def: "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." [NCIT:C70649]
subset: gard_rare {source="GARD:13731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86871"}
subset: orphanet_rare {source="Orphanet:86871"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic T-cell leukaemia" NARROW OMO:0003005 []
synonym: "chronic T-cell leukemia" NARROW DEPRECATED [NCIT:C70649]
synonym: "chronic T-cell lymphocytic leukaemia" NARROW OMO:0003005 []
synonym: "chronic T-cell lymphocytic leukemia" NARROW DEPRECATED [NCIT:C70649]
synonym: "CLL, T-cell" EXACT [NCIT:C70649]
synonym: "leukemia, T-cell, chronic" RELATED [GARD:0008224]
synonym: "T cell chronic lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "T cell chronic lymphocytic leukemia" EXACT [NCIT:C70649]
synonym: "T cell CLL" EXACT [NCIT:C70649]
synonym: "T cell prolymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "T cell prolymphocytic leukemia" EXACT [NCIT:C4752]
synonym: "T prolymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "T prolymphocytic leukemia" EXACT [NCIT:C4752]
synonym: "T-cell chronic lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "T-cell chronic lymphocytic leukemia" EXACT [Orphanet:86871]
synonym: "T-cell CLL" EXACT [NCIT:C70649]
synonym: "T-cell prolymphocytic leukemia" EXACT [MONDO:0006441, NCIT:C4752]
synonym: "T-PLL" EXACT [Orphanet:86871]
synonym: "TPLL" RELATED ABBREVIATION [ONCOTREE:TPLL]
xref: DOID:0081042 {source="MONDO:equivalentTo"}
xref: EFO:1000560 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13731 {source="MONDO:GARD"}
xref: ICD10CM:C91.6 {source="Orphanet:86871", source="Orphanet:86871/e"}
xref: icd11.foundation:352523899 {source="Orphanet:86871", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9834/3 {source="NCIT:C4752"}
xref: MedDRA:10042985 {source="Orphanet:86871", source="Orphanet:86871/e"}
xref: MEDGEN:391707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015461 {source="Orphanet:86871", source="MONDO:equivalentTo", source="Orphanet:86871/e"}
xref: NCIT:C4752 {source="EFO:1000560", source="MONDO:equivalentTo"}
xref: ONCOTREE:TPLL {source="MONDO:equivalentTo"}
xref: Orphanet:86871 {source="MONDO:equivalentTo"}
xref: SCTID:277545003 {source="MONDO:equivalentTo"}
xref: SCTID:277567002 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C2363142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:391707"}
is_a: MONDO:0001023 {source="MESH:D015461", source="NCIT:C4752"} ! prolymphocytic leukemia
is_a: MONDO:0005169 {source="NCIT:C4752"} ! neoplasm of mature T-cells or NK-cells
is_a: MONDO:0005525 {source="MESH:D015461", source="MONDO:Redundant"} ! T-cell leukemia
is_a: MONDO:0015760 {source="Orphanet:86871"} ! T-cell non-Hodgkin lymphoma
relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell

[Term]
id: MONDO:0019469
name: T-cell large granular lymphocyte leukemia
def: "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." [Orphanet:86872]
subset: gard_rare {source="GARD:9812", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86872"}
subset: orphanet_rare {source="Orphanet:86872"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "large cell granular lymphogenous leukaemia" EXACT OMO:0003005 []
synonym: "large cell granular lymphogenous leukemia" EXACT [NCIT:C4664]
synonym: "large cell granular lymphoid leukaemia" EXACT OMO:0003005 []
synonym: "large cell granular lymphoid leukemia" EXACT [NCIT:C4664]
synonym: "large granular lymphocyte leukaemia" RELATED OMO:0003005 []
synonym: "large granular lymphocyte leukemia" RELATED [GARD:0009812]
synonym: "large granular lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "large granular lymphocytic leukemia" EXACT [DOID:0050751, NCIT:C4664]
synonym: "large granular lymphocytosis" EXACT [NCIT:C4664]
synonym: "leukemia, large granular LYMPHOCYTIC, malignant" EXACT [NCIT:C4664]
synonym: "LGL leukaemia" RELATED OMO:0003005 []
synonym: "LGL leukemia" RELATED [GARD:0009812]
synonym: "LGLL" EXACT ABBREVIATION [NCIT:C4664]
synonym: "proliferation of large granular lymphocytes" EXACT [Orphanet:86872]
synonym: "T gamma lymphoproliferative disorder" EXACT [NCIT:C4664]
synonym: "T-cell large gran. lymph. leuk." EXACT [NCIT:C4664]
synonym: "T-cell large granular lymphocyte leukemia" EXACT [NCIT:C4664]
synonym: "T-cell large granular lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "T-cell large granular lymphocytic leukemia" EXACT [NCIT:C4664]
synonym: "T-cell LGL leukaemia" EXACT OMO:0003005 []
synonym: "T-cell LGL leukemia" EXACT [Orphanet:86872]
synonym: "T-gamma lymphoproliferative disorder" EXACT [NCIT:C4664]
synonym: "T-LGL" EXACT [Orphanet:86872]
synonym: "T-LGL leukaemia" EXACT OMO:0003005 []
synonym: "T-LGL leukemia" EXACT [NCIT:C4664]
synonym: "Tgamma large granular lymphocyte leukaemia" EXACT OMO:0003005 []
synonym: "Tgamma large granular lymphocyte leukemia" EXACT [NCIT:C4664]
synonym: "TLGL" RELATED ABBREVIATION [ONCOTREE:TLGL]
xref: DOID:0050751 {source="MONDO:equivalentTo"}
xref: GARD:9812 {source="MONDO:GARD"}
xref: icd11.foundation:83430037 {source="Orphanet:86872", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9768/1 {source="NCIT:C4664"}
xref: ICDO:9831/1 {source="NCIT:C4664"}
xref: ICDO:9831/3 {source="NCIT:C4664"}
xref: MedDRA:10065862 {source="Orphanet:86872", source="Orphanet:86872/e"}
xref: MEDGEN:363038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054066 {source="Orphanet:86872", source="Orphanet:86872/e"}
xref: NCIT:C4664 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:TLGL {source="MONDO:equivalentTo"}
xref: Orphanet:86872 {source="MONDO:equivalentTo"}
xref: SCTID:277569004 {source="MONDO:equivalentTo"}
xref: UMLS:C1955861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:363038"}
is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C4664"} ! chronic leukemia
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0005169 {source="NCIT:C4664"} ! neoplasm of mature T-cells or NK-cells
is_a: MONDO:0005402 {source="MONDO:Redundant", source="NCIT:C4664"} ! lymphoid leukemia
is_a: MONDO:0015760 {source="Orphanet:86872", source="Orphanet:86872/inferred"} ! T-cell non-Hodgkin lymphoma
relationship: excluded_subClassOf MONDO:0004948 {source="DOID:0050751", source="https://orcid.org/0000-0001-5208-3432"} ! B-cell chronic lymphocytic leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0019470
name: aggressive NK-cell leukemia
def: "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." [NCIT:C8647]
subset: gard_rare {source="GARD:10493", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86873"}
subset: orphanet_rare {source="Orphanet:86873"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aggressive natural killer cell leukaemia" RELATED OMO:0003005 []
synonym: "aggressive natural killer cell leukemia" RELATED [GARD:0010493]
synonym: "aggressive NK cell leukaemia" RELATED OMO:0003005 []
synonym: "aggressive NK cell leukemia" RELATED [GARD:0010493]
synonym: "aggressive NK-cell leukaemia (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "aggressive NK-cell leukemia" EXACT [NCIT:C8647]
synonym: "aggressive NK-cell leukemia (morphologic abnormality)" EXACT [DOID:1035]
synonym: "aggressive NK-cell leukemia/lymphoma" EXACT [NCIT:C8647]
synonym: "aggressive NK-cell lymphoma" EXACT [Orphanet:86873]
synonym: "ANKCL" EXACT ABBREVIATION [Orphanet:86873]
synonym: "ANKL" RELATED ABBREVIATION [GARD:0010493, ONCOTREE:ANKL]
synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT [DOID:1035, NCIT:C8647]
synonym: "leukaemia (disease) of natural killer cell" EXACT OMO:0003005 []
synonym: "leukemia (disease) of natural killer cell" EXACT []
synonym: "natural Killer cell leukaemia" EXACT OMO:0003005 []
synonym: "natural killer cell leukaemia" EXACT OMO:0003005 []
synonym: "natural killer cell leukaemia (disease)" EXACT OMO:0003005 []
synonym: "natural Killer cell leukemia" EXACT [NCIT:C8647]
synonym: "natural killer cell leukemia" EXACT [MONDO:0001010]
synonym: "natural killer cell leukemia (disease)" EXACT [MONDO:patterns/location]
synonym: "NK cell leukaemia" EXACT OMO:0003005 []
synonym: "NK cell leukemia" EXACT [NCIT:C8647]
synonym: "NK-cell large granular lymphocyte leukaemia" EXACT OMO:0003005 []
synonym: "NK-cell large granular lymphocyte leukemia" EXACT [Orphanet:86873]
synonym: "NK-cell leukaemia" EXACT OMO:0003005 []
synonym: "NK-cell leukemia" EXACT [NCIT:C8647]
synonym: "NK-cell LGL leukaemia" EXACT OMO:0003005 []
synonym: "NK-cell LGL leukemia" EXACT [Orphanet:86873]
xref: DOID:1035 {source="MONDO:equivalentTo"}
xref: GARD:10493 {source="MONDO:GARD"}
xref: ICD10CM:C94.8 {source="DOID:1035"}
xref: icd11.foundation:153957345 {source="Orphanet:86873", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9948/3 {source="NCIT:C8647"}
xref: MedDRA:10028811 {source="Orphanet:86873", source="Orphanet:86873/e"}
xref: MEDGEN:266235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200012 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8647 {source="DOID:1035", source="MONDO:equivalentTo"}
xref: ONCOTREE:ANKL {source="MONDO:equivalentTo"}
xref: Orphanet:86873 {source="MONDO:equivalentTo"}
xref: SCTID:128833001 {source="DOID:1035"}
xref: SCTID:721310007 {source="MONDO:equivalentTo"}
xref: UMLS:C1292777 {source="MEDGEN:266235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001014 {source="NCIT:C8647"} ! chronic leukemia
is_a: MONDO:0004805 {source="DOID:1035", source="MONDO:Entailed", source="MONDO:Redundant"} ! leukocyte disorder
is_a: MONDO:0004967 {source="DOID:1035", source="MONDO:Redundant", source="MONDO:indirect"} ! acute lymphoblastic leukemia
is_a: MONDO:0005169 {source="NCIT:C8647"} ! neoplasm of mature T-cells or NK-cells
is_a: MONDO:0005402 {source="NCIT:C8647"} ! lymphoid leukemia
is_a: MONDO:0015760 {source="Orphanet:86873", source="Orphanet:86873/inferred"} ! T-cell non-Hodgkin lymphoma
intersection_of: MONDO:0005059 ! leukemia
intersection_of: disease_has_location CL:0000623 ! natural killer cell
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia" xsd:anyURI {source="GARD:0010493"}

[Term]
id: MONDO:0019471
name: adult T-cell leukemia/lymphoma
def: "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." [NCIT:C3184]
subset: gard_rare {source="GARD:19076", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86875"}
subset: orphanet_rare {source="Orphanet:86875"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult T cell lymphoma/leukemia" RELATED [NCIT:C3184]
synonym: "adult T-cell leukaemia" EXACT OMO:0003005 []
synonym: "adult T-cell leukemia" EXACT [DOID:0050523, GARD:0013103]
synonym: "adult T-cell leukemia/lymphoma" EXACT [DOID:0050523, MONDO:0000347, NCIT:C3184]
synonym: "adult T-cell leukemia/lymphoma (HTLV-1 positive)" RELATED [GARD:0013103]
synonym: "adult T-cell lymphoma" RELATED [GARD:0013103]
synonym: "adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184]
synonym: "ATLL" EXACT ABBREVIATION [Orphanet:86875]
synonym: "HTLV-1 associated adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184]
synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [NCIT:C3184]
synonym: "T-cell leukaemia of adults" EXACT OMO:0003005 []
synonym: "T-cell leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: DOID:0050523 {source="MONDO:equivalentTo"}
xref: GARD:19076 {source="MONDO:GARD"}
xref: ICD10CM:C91.5 {source="Orphanet:86875/ntbt", source="Orphanet:86875", source="DOID:0050523"}
xref: ICD10CM:C91.50 {source="DOID:0050523"}
xref: icd11.foundation:430573082 {source="Orphanet:86875", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9827/3 {source="NCIT:C3184"}
xref: MedDRA:10001413 {source="Orphanet:86875", source="Orphanet:86875/e"}
xref: MEDGEN:44128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015459 {source="Orphanet:86875", source="DOID:0050523", source="Orphanet:86875/e"}
xref: NCIT:C3184 {source="MONDO:equivalentTo", source="DOID:0050523"}
xref: ONCOTREE:ATLL {source="MONDO:equivalentTo"}
xref: Orphanet:86875 {source="MONDO:equivalentTo"}
xref: SCTID:110007008 {source="MONDO:equivalentTo", source="DOID:0050523"}
xref: SCTID:188729005 {source="DOID:0050523"}
xref: SCTID:77430005 {source="DOID:0050523"}
xref: UMLS:C0023493 {source="MEDGEN:44128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005525 {source="DOID:0050523", source="MONDO:Redundant"} ! T-cell leukemia
is_a: MONDO:0015760 {source="MONDO:Redundant", source="NCIT:C3184/inferred", source="Orphanet:86875", source="Orphanet:86875/inferred"} ! T-cell non-Hodgkin lymphoma
is_a: MONDO:0017341 {source="Orphanet:86875"} ! virus associated tumor
intersection_of: MONDO:0005525 ! T-cell leukemia
intersection_of: has_characteristic HP:0003581 ! Adult onset
relationship: MONDO:0100332 NCBITaxon:11908 ! disease has primary infectious agent Human T-cell leukemia virus type I

[Term]
id: MONDO:0019472
name: extranodal nasal NK/T cell lymphoma
def: "Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described." [Orphanet:86879]
subset: gard_rare {source="GARD:7041", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86879"}
subset: orphanet_rare {source="Orphanet:86879"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiocentric T-cell lymphoma" EXACT [Orphanet:86879]
synonym: "Extranodal NK/T lymphoma-nasal" EXACT [NCIT:C4684]
synonym: "Extranodal NK/T-cell lymphoma, nasal type" EXACT [NCIT:C4684]
synonym: "lethal midline granuloma" EXACT [Orphanet:86879]
synonym: "nasal T/natural killer-cell lymphoma" EXACT [Orphanet:86879]
synonym: "nasal type Extranodal NK/T-cell lymphoma" EXACT [NCIT:C4684]
synonym: "NK/T-cell lymphoma" EXACT [Orphanet:86879]
synonym: "NKTCL" EXACT ABBREVIATION [Orphanet:86879]
synonym: "reticulosis, malignant" EXACT [NCIT:C4684]
xref: DOID:0080797 {source="MONDO:equivalentTo"}
xref: GARD:7041 {source="MONDO:GARD"}
xref: ICD10CM:C86.0 {source="Orphanet:86879", source="Orphanet:86879/e"}
xref: icd11.foundation:684005900 {source="MONDO:equivalentTo", source="Orphanet:86879", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:9719/3 {source="NCIT:C4684"}
xref: MedDRA:10065855 {source="Orphanet:86879", source="Orphanet:86879/e"}
xref: MEDGEN:140278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054391 {source="Orphanet:86879", source="Orphanet:86879/e"}
xref: NANDO:2200027 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4684 {source="MONDO:equivalentTo"}
xref: Orphanet:86879 {source="MONDO:equivalentTo"}
xref: UMLS:C0392788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140278"}
is_a: MONDO:0005062 {source="https://orcid.org/0000-0002-5002-8648"} ! lymphoma
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0017343 {source="Orphanet:86879"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI

[Term]
id: MONDO:0019473
name: enteropathy-associated T-cell lymphoma
def: "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease." [NCIT:C4737]
comment: Editor note: consider moving ORDO class to SI subclass
subset: gard_rare {source="GARD:9809", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86880"}
subset: orphanet_rare {source="Orphanet:86880"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EATCL" RELATED ABBREVIATION [GARD:0009809]
synonym: "EATL" EXACT ABBREVIATION [ONCOTREE:EATL, Orphanet:86880]
synonym: "EATL, type I" EXACT [NCIT:C4737]
synonym: "enteropathy associated T-cell lymphoma" EXACT [NCIT:C4737]
synonym: "enteropathy-associated T-cell lymphoma, type I" EXACT [NCIT:C4737]
synonym: "enteropathy-type T-cell lymphoma" EXACT [Orphanet:86880]
synonym: "ETTL" EXACT ABBREVIATION [Orphanet:86880]
synonym: "high-grade pleomorphic peripheral T-cell lymphoma" RELATED [GARD:0009809]
synonym: "intestinal T-cell lymphoma" EXACT [Orphanet:86880]
xref: GARD:9809 {source="MONDO:GARD"}
xref: ICD10CM:C86.2 {source="Orphanet:86880/e", source="Orphanet:86880"}
xref: icd11.foundation:958629729 {source="MONDO:equivalentTo", source="Orphanet:86880", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9717/3 {source="NCIT:C4737"}
xref: MedDRA:10022703 {source="Orphanet:86880/e", source="Orphanet:86880"}
xref: MEDGEN:96832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058527 {source="Orphanet:86880/e", source="MONDO:equivalentTo", source="Orphanet:86880"}
xref: NCIT:C4737 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:EATL {source="MONDO:equivalentTo"}
xref: Orphanet:86880 {source="MONDO:equivalentTo"}
xref: SCTID:277654008 {source="MONDO:equivalentTo"}
xref: UMLS:C0456889 {source="MEDGEN:96832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015760 {source="MESH:D058527", source="NCIT:C4737/inferred", source="Orphanet:86880"} ! T-cell non-Hodgkin lymphoma
relationship: excluded_subClassOf MONDO:0018505 {source="MONDO:Redundant", source="Orphanet:86880", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare tumor of small intestine
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma" xsd:anyURI {source="GARD:0009809"}

[Term]
id: MONDO:0019474
name: hepatosplenic T-cell lymphoma
def: "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis." [NCIT:P378]
subset: gard_rare {source="GARD:19077", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86882"}
subset: orphanet_rare {source="Orphanet:86882"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hepatosplenic gamma/Delta T-cell lymphoma" EXACT [NCIT:C8459]
synonym: "HSTCL" RELATED ABBREVIATION [ONCOTREE:HSTCL]
xref: DOID:0081049 {source="MONDO:equivalentTo"}
xref: GARD:19077 {source="MONDO:GARD"}
xref: ICD10CM:C86.1 {source="Orphanet:86882", source="MONDO:equivalentTo", source="Orphanet:86882/e"}
xref: icd11.foundation:1301206942 {source="Orphanet:86882", source="MONDO:equivalentTo"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9716/3 {source="NCIT:C8459"}
xref: MedDRA:10066957 {source="Orphanet:86882", source="Orphanet:86882/e"}
xref: MEDGEN:272711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8459 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:HSTCL {source="MONDO:equivalentTo"}
xref: Orphanet:86882 {source="MONDO:equivalentTo"}
xref: SCTID:445406001 {source="MONDO:equivalentTo"}
xref: UMLS:C1333984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272711"}
is_a: MONDO:0015760 {source="NCIT:C8459/inferred", source="Orphanet:86882"} ! T-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0019475
name: subcutaneous panniculitis-like T-cell lymphoma
def: "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." [Orphanet:86884]
subset: gard_rare {source="GARD:10193", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86884"}
subset: orphanet_rare {source="Orphanet:86884"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPTCL" EXACT ABBREVIATION [ONCOTREE:SPTCL, Orphanet:86884]
synonym: "subcutaneous panniculitic T-cell lymphoma" EXACT [Orphanet:86884]
synonym: "subcutaneous panniculitis-like T-cell lymphoma" EXACT [MONDO:0006433]
synonym: "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" EXACT [NCIT:C6918]
synonym: "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" EXACT [NCIT:C6918]
synonym: "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE" RELATED [OMIM:618398]
xref: EFO:1000552 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10193 {source="MONDO:GARD"}
xref: ICD10CM:C86.3 {source="MONDO:equivalentTo"}
xref: icd11.foundation:1550338805 {source="Orphanet:86884", source="MONDO:equivalentTo"}
xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9708/3 {source="NCIT:C6918"}
xref: MEDGEN:99306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537503 {source="Orphanet:86884", source="MONDO:equivalentTo", source="Orphanet:86884/e"}
xref: NANDO:2200030 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6918 {source="MONDO:equivalentTo", source="EFO:1000552"}
xref: OMIM:618398 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SPTCL {source="MONDO:equivalentTo"}
xref: Orphanet:86884 {source="MONDO:equivalentTo", source="OMIM:618398"}
xref: SCTID:404133000 {source="MONDO:equivalentTo"}
xref: UMLS:C0522624 {source="MEDGEN:99306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618398"} ! hereditary disease
is_a: MONDO:0005062 {source="EFO:1000552", source="MESH:C537503/inferred", source="MONDO:Redundant", source="NCIT:C6918/inferred", source="Orphanet:86884/inferred"} ! lymphoma
is_a: MONDO:0015816 {source="Orphanet:86884"} ! indolent primary cutaneous T-cell lymphoma
relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell

[Term]
id: MONDO:0019476
name: primary cutaneous peripheral T-cell lymphoma not otherwise specified
subset: gard_rare {source="GARD:19078", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86885"}
subset: orphanet_rare {source="Orphanet:86885"}
subset: rare
synonym: "primary cutaneous peripheral T-cell lymphoma NOS" RELATED EXCLUDE [Orphanet:86885]
synonym: "primary cutaneous unspecified peripheral T-cell lymphoma" EXACT [Orphanet:86885]
xref: GARD:19078 {source="MONDO:GARD"}
xref: ICD10CM:C84.4 {source="Orphanet:86885", source="MONDO:relatedTo", source="Orphanet:86885/ntbt"}
xref: MedDRA:10034623 {source="Orphanet:86885", source="Orphanet:86885/e"}
xref: MEDGEN:38240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016411 {source="Orphanet:86885", source="MONDO:relatedTo", source="Orphanet:86885/e"}
xref: Orphanet:86885 {source="MONDO:equivalentTo"}
xref: UMLS:C0079774 {source="MEDGEN:38240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0015758 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! primary cutaneous T-cell lymphoma
is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0019477
name: obsolete angioimmunoblastic T-cell lymphoma
is_obsolete: true
replaced_by: MONDO:0004977

[Term]
id: MONDO:0019478
name: adult nodular lymphocyte predominant Hodgkin lymphoma
def: "A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult NLPHD" EXACT [NCIT:C7942]
synonym: "adult nodular lymphocyte predominant Hodgkin's disease" EXACT [NCIT:C7942]
synonym: "adult nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [NCIT:C7942]
synonym: "nodular lymphocyte predominant Hodgkin lymphoma" BROAD [NCIT:C7942]
xref: MEDGEN:231044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7942 {source="MONDO:equivalentTo", source="UMLS:C1332210"}
xref: UMLS:C1332210 {source="MEDGEN:231044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004952 {source="NCIT:C7942/inferred", source="Orphanet:86893"} ! Hodgkins lymphoma
is_a: MONDO:0044778 {source="NCIT:C7942"} ! nodular lymphocyte predominant Hodgkin lymphoma
intersection_of: MONDO:0044778 ! nodular lymphocyte predominant Hodgkin lymphoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0019479
name: histiocytic sarcoma
def: "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." [NCIT:P378]
subset: gard_rare {source="GARD:19080", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86896"}
subset: orphanet_rare {source="Orphanet:86896"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "histiocytic sarcoma" EXACT [NCIT:C27349]
synonym: "sarcoma, histiocytic, malignant" EXACT [NCIT:C27349]
xref: DOID:0080915 {source="MONDO:equivalentTo"}
xref: GARD:19080 {source="MONDO:GARD"}
xref: ICD10CM:C96.8 {source="Orphanet:86896", source="Orphanet:86896/e"}
xref: ICD10CM:C96.A {source="MONDO:equivalentTo"}
xref: icd11.foundation:911785965 {source="Orphanet:86896", source="MONDO:equivalentTo"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9755/3 {source="NCIT:C27349"}
xref: MEDGEN:137793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054747 {source="Orphanet:86896", source="MONDO:equivalentTo", source="Orphanet:86896/e"}
xref: NCIT:C27349 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:HS {source="MONDO:equivalentTo"}
xref: Orphanet:86896 {source="MONDO:equivalentTo"}
xref: SCTID:109988003 {source="MONDO:equivalentTo"}
xref: UMLS:C0334663 {source="MEDGEN:137793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006247 {source="NCIT:C27349", source="Orphanet:86896/inferred"} ! histiocytic and dendritic cell neoplasm

[Term]
id: MONDO:0019480
name: Langerhans cell sarcoma
def: "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" [NCIT:C6921]
subset: gard_rare {source="GARD:10491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86897"}
subset: orphanet_rare {source="Orphanet:86897"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Langerhans cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C6921]
synonym: "LCS" RELATED ABBREVIATION [ONCOTREE:LCS]
synonym: "malignant Langerhans cell sarcoma" RELATED [GARD:0010491]
synonym: "sarcoma of Langerhans cell" EXACT [MONDO:patterns/sarcoma]
xref: DOID:7146 {source="EFO:0007336", source="MONDO:equivalentTo"}
xref: EFO:0007336 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10491 {source="MONDO:GARD"}
xref: ICD10CM:C96.4 {source="Orphanet:86897/ntbt", source="Orphanet:86897", source="DOID:7146"}
xref: icd11.foundation:588958190 {source="Orphanet:86897", source="MONDO:equivalentTo"}
xref: ICDO:9756/3 {source="NCIT:C6921"}
xref: MEDGEN:266041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054752 {source="EFO:0007336", source="Orphanet:86897", source="MONDO:equivalentTo", source="Orphanet:86897/e", source="DOID:7146"}
xref: NANDO:2200036 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6921 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7146"}
xref: ONCOTREE:LCS {source="MONDO:equivalentTo"}
xref: Orphanet:86897 {source="MONDO:equivalentTo"}
xref: SCTID:128814006 {source="DOID:7146"}
xref: SCTID:724649000 {source="MONDO:equivalentTo"}
xref: UMLS:C1260327 {source="MEDGEN:266041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004380 {source="DOID:7146", source="MONDO:Entailed", source="MONDO:Redundant"} ! dendritic cell sarcoma
is_a: MONDO:0006247 {source="DOID:7146/inferred", source="MONDO:Redundant", source="NCIT:C6921", source="NCIT:C6921/inferred", source="Orphanet:86897/inferred"} ! histiocytic and dendritic cell neoplasm
is_a: MONDO:0020082 {source="Orphanet:86897"} ! dendritic cell tumor
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location CL:0000453 ! Langerhans cell
relationship: disease_has_location CL:0000453 {source="EFO:0000784"} ! Langerhans cell
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma" xsd:anyURI {source="GARD:0010491"}

[Term]
id: MONDO:0019481
name: obsolete follicular dendritic cell sarcoma
is_obsolete: true
replaced_by: MONDO:0005764

[Term]
id: MONDO:0019482
name: obsolete dendritic cell sarcoma not otherwise specified
subset: nord_rare {source="MONDO:NORD"}
xref: GARD:19082 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7175" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004380

[Term]
id: MONDO:0019483
name: methotrexate-associated lymphoproliferative disorders
def: "Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients." [Orphanet:86904]
subset: gard_rare {source="GARD:19083", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86904"}
subset: orphanet_rare {source="Orphanet:86904"}
subset: rare
synonym: "methotrexate-associated lymphoproliferation" EXACT [MONDO:0003657]
synonym: "methotrexate-associated lymphoproliferative disorder" EXACT [NCIT:C7184]
synonym: "MTX-associated lymphoproliferative disorders" EXACT [Orphanet:86904]
synonym: "MTX-LPD" EXACT [Orphanet:86904]
xref: DOID:5821 {source="MONDO:equivalentTo"}
xref: GARD:19083 {source="MONDO:GARD"}
xref: MEDGEN:233702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7184 {source="DOID:5821", source="MONDO:equivalentTo"}
xref: Orphanet:86904 {source="MONDO:equivalentTo"}
xref: UMLS:C1334749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233702"}
is_a: MONDO:0005062 {source="DOID:5821", source="NCIT:C7184"} ! lymphoma
is_a: MONDO:0020083 {source="Orphanet:86904"} ! immunodeficiency-associated lymphoproliferative disease
intersection_of: MONDO:0020083 ! immunodeficiency-associated lymphoproliferative disease
intersection_of: realized_in_response_to_stimulus CHEBI:44185 ! methotrexate
relationship: realized_in_response_to_stimulus CHEBI:44185 ! methotrexate

[Term]
id: MONDO:0019484
name: hypothalamic hamartomas with gelastic seizures
def: "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." [Orphanet:86906]
subset: gard_rare {source="GARD:19084", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86906"}
subset: orphanet_rare {source="Orphanet:86906"}
subset: rare
xref: GARD:19084 {source="MONDO:GARD"}
xref: ICD10CM:G40.5 {source="Orphanet:86906/attributed", source="Orphanet:86906/ntbt", source="Orphanet:86906"}
xref: MEDGEN:1642420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86906 {source="MONDO:equivalentTo"}
xref: UMLS:C4707883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642420"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder

[Term]
id: MONDO:0019485
name: idiopathic hemiconvulsion-hemiplegia syndrome
def: "A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory." [Orphanet:86908]
subset: gard_rare {source="GARD:19085", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86908"}
subset: orphanet_rare {source="Orphanet:86908"}
subset: rare
synonym: "hemiconvulsion-hemiplegia-epilepsy syndrome" EXACT [Orphanet:86908]
synonym: "HHE syndrome" EXACT [Orphanet:86908]
synonym: "IHHS" EXACT ABBREVIATION [Orphanet:86908]
xref: GARD:19085 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:86908/ntbt", source="Orphanet:86908"}
xref: MEDGEN:639806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200596 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:86908 {source="MONDO:equivalentTo"}
xref: SCTID:230407006 {source="MONDO:equivalentTo"}
xref: UMLS:C0549118 {source="MEDGEN:639806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020071 {source="Orphanet:86908"} ! infantile epilepsy syndrome
is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome
relationship: has_characteristic HP:0003593 {source="Orphanet:86908"} ! Infantile onset
relationship: has_characteristic MONDO:0700005 {source="Orphanet:86908"} ! idiopathic

[Term]
id: MONDO:0019486
name: obsolete myoclonic epilepsy of infancy
subset: otar {source="MONDO:OTAR"}
xref: GARD:19086 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100566

[Term]
id: MONDO:0019487
name: epilepsy with myoclonic absences
subset: gard_rare {source="GARD:19087", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86911"}
subset: orphanet_rare {source="Orphanet:86911"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19087 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:86911", source="Orphanet:86911/ntbt"}
xref: icd11.foundation:274380122 {source="MONDO:equivalentTo", source="Orphanet:86911", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:140741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200589 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:86911 {source="MONDO:equivalentTo"}
xref: SCTID:230422001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140741"}
is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder
is_a: MONDO:0020072 {source="Orphanet:86911", source="https://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-absences-overview.html" xsd:anyURI

[Term]
id: MONDO:0019488
name: myoclonic epilepsy in non-progressive encephalopathies
def: "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." [Orphanet:86913]
subset: gard_rare {source="GARD:19088", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86913"}
subset: ordo_malformation_syndrome {source="Orphanet:86913"}
subset: orphanet_rare {source="Orphanet:86913"}
subset: rare
synonym: "myoclonic status in non-progressive encephalopathies" EXACT [Orphanet:86913]
synonym: "myoclonus epilepsy in non-progressive encephalopathies" EXACT [Orphanet:86913]
xref: GARD:19088 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:86913", source="Orphanet:86913/attributed", source="Orphanet:86913/ntbt"}
xref: MEDGEN:1661865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86913 {source="MONDO:equivalentTo"}
xref: UMLS:C4755298 {source="MEDGEN:1661865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020071 {source="Orphanet:86913"} ! infantile epilepsy syndrome
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/menpd-overview.html" xsd:anyURI

[Term]
id: MONDO:0019489
name: diffuse palmoplantar keratoderma - acrocyanosis syndrome
def: "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." [Orphanet:86918]
subset: gard_rare {source="GARD:19089", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86918"}
subset: orphanet_rare {source="Orphanet:86918"}
subset: rare
synonym: "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" EXACT [Orphanet:86918]
xref: GARD:19089 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:86918/attributed", source="Orphanet:86918/ntbt", source="Orphanet:86918"}
xref: MEDGEN:929257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86918 {source="MONDO:equivalentTo"}
xref: UMLS:C4303588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929257"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma

[Term]
id: MONDO:0019490
name: progressive familial heart block
def: "A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." [Orphanet:871]
subset: gard_rare {source="GARD:10005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:871"}
subset: orphanet_rare {source="Orphanet:871"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial Lenegre disease" EXACT [DOID:0111073]
synonym: "familial Lenègre disease" EXACT [Orphanet:871]
synonym: "familial Lev disease" EXACT [DOID:0111073, Orphanet:871]
synonym: "familial Lev-Lenegre disease" EXACT [DOID:0111073]
synonym: "familial Lev-Lenègre disease" EXACT [Orphanet:871]
synonym: "familial PCCD" EXACT [DOID:0111073, Orphanet:871]
synonym: "familial progressive cardiac conduction defect" RELATED [Orphanet:871]
synonym: "familial progressive heart block" EXACT [DOID:0111073, Orphanet:871]
synonym: "hereditary bundle branch defect" NARROW [DOID:0111073, Orphanet:871]
synonym: "PFHB" EXACT ABBREVIATION [DOID:0111073]
xref: DOID:0111073 {source="MONDO:equivalentTo"}
xref: GARD:10005 {source="MONDO:GARD"}
xref: ICD10CM:I45.8 {source="Orphanet:871/attributed", source="Orphanet:871/ntbt", source="Orphanet:871"}
xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: OMIMPS:113900 {source="MONDO:equivalentTo", source="DOID:0111073"}
xref: Orphanet:871 {source="MONDO:equivalentTo", source="DOID:0111073"}
xref: SCTID:698249005 {source="MONDO:equivalentTo"}
xref: SCTID:93130009 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0000992 {source="DOID:0111073", source="MONDO:indirect"} ! heart conduction disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:113900"} ! inherited

[Term]
id: MONDO:0019491
name: obsolete rare intellectual disability
def: "OBSOLETE. Rare intellectual disability." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:87277"}
synonym: "rare intellectual disability" EXACT [MONDO:patterns/rare]
xref: GARD:19090 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:87277 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001071

[Term]
id: MONDO:0019492
name: obsolete desmoid tumor
is_obsolete: true
replaced_by: MONDO:0007608

[Term]
id: MONDO:0019493
name: primary adult heart tumor
def: "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." [Orphanet:874]
subset: gard_rare {source="GARD:18709", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:874"}
subset: orphanet_rare {source="Orphanet:874"}
subset: rare
synonym: "adult cardiac tumor" EXACT [Orphanet:874]
synonym: "adult cardiac tumour" EXACT OMO:0003005 []
synonym: "adult heart tumor" EXACT [Orphanet:874]
synonym: "adult heart tumour" EXACT OMO:0003005 []
xref: GARD:18709 {source="MONDO:GARD"}
xref: ICD10CM:C38.0 {source="Orphanet:874", source="Orphanet:874/ntbt"}
xref: ICD10CM:D15.1 {source="Orphanet:874", source="MONDO:relatedTo", source="Orphanet:874/ntbt"}
xref: MEDGEN:900582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:874 {source="MONDO:equivalentTo"}
xref: SCTID:715403006 {source="MONDO:equivalentTo"}
xref: UMLS:C4275152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900582"}
is_a: MONDO:0021209 {source="Orphanet:874"} ! heart neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015673"} ! rare

[Term]
id: MONDO:0019494
name: primary pediatric heart tumor
def: "Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." [Orphanet:875]
subset: gard_rare {source="GARD:18710", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:875"}
subset: orphanet_rare {source="Orphanet:875"}
subset: rare
synonym: "Cardiac tumor of child" EXACT [Orphanet:875]
synonym: "Cardiac tumour of child" EXACT OMO:0003005 []
synonym: "heart tumor of child" EXACT [Orphanet:875]
synonym: "heart tumour of child" EXACT OMO:0003005 []
synonym: "paediatric heart neoplasm" EXACT OMO:0003005 []
synonym: "pediatric heart neoplasm" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:18710 {source="MONDO:GARD"}
xref: ICD10CM:C38.0 {source="Orphanet:875/ntbt", source="Orphanet:875"}
xref: ICD10CM:D15.1 {source="Orphanet:875/ntbt", source="MONDO:relatedTo", source="Orphanet:875"}
xref: MEDGEN:895113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:875 {source="MONDO:equivalentTo"}
xref: UMLS:C4274356 {source="MEDGEN:895113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021209 {source="Orphanet:875"} ! heart neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015673"} ! rare

[Term]
id: MONDO:0019495
name: obsolete yolk sac tumor
is_obsolete: true
replaced_by: MONDO:0005744

[Term]
id: MONDO:0019496
name: neuroendocrine neoplasm
def: "Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion)." [Orphanet:877]
comment: Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass
subset: disease_grouping
subset: gard_rare {source="GARD:9316", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:877"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "APUDoma" EXACT [Orphanet:877]
synonym: "neuroendocrine neoplasm" EXACT [DOID:169, NCIT:C3809]
synonym: "neuroendocrine tumor" EXACT [NCIT:C3809]
synonym: "neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:169 {source="MONDO:equivalentTo"}
xref: EFO:1001901 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9316 {source="MONDO:GARD"}
xref: ICD10CM:D3A-D3A {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:D3A.8 {source="DOID:169"}
xref: ICD9:209 {source="DOID:169"}
xref: ICD9:209-209.99 {source="DOID:169"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:64652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018358 {source="MONDO:equivalentTo", source="DOID:169"}
xref: NCIT:C3809 {source="MONDO:equivalentTo", source="DOID:169"}
xref: Orphanet:877 {source="MONDO:equivalentTo"}
xref: SCTID:128928004 {source="DOID:169"}
xref: SCTID:255046005 {source="MONDO:equivalentTo", source="DOID:169"}
xref: UMLS:C0206754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64652"}
is_a: MONDO:0002082 {source="EFO:1001901", source="MONDO:Redundant", source="NCIT:C3809", source="Orphanet:877"} ! endocrine gland neoplasm
relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain
relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dysentery

[Term]
id: MONDO:0019497
name: nonsyndromic genetic hearing loss
def: "A disease characterized by hearing loss that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19091", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:87884"}
subset: orphanet_rare {source="Orphanet:87884"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial deafness" NARROW [GARD:0006410]
synonym: "isolated genetic deafness" NARROW [Orphanet:87884]
synonym: "non-syndromic genetic deafness" NARROW [Orphanet:87884]
synonym: "nonsyndromic deafness" BROAD [DOID:0050563]
synonym: "nonsyndromic genetic deafness" NARROW [Orphanet:87884]
synonym: "nonsyndromic genetic hearing loss" EXACT CLINGEN_LABEL []
synonym: "nonsyndromic hearing loss" BROAD [DOID:0050563, MONDO:patterns/isolated]
synonym: "nonsyndromic hereditary hearing loss" EXACT [DOID:0050563]
xref: DOID:0050563 {source="MONDO:equivalentTo"}
xref: GARD:19091 {source="MONDO:GARD"}
xref: ICD10CM:H90.5 {source="Orphanet:87884", source="Orphanet:87884/e", source="Orphanet:87884/specific"}
xref: icd11.foundation:1154032108 {source="Orphanet:87884", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1830101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580334 {source="MONDO:equivalentTo"}
xref: Orphanet:87884 {source="MONDO:equivalentTo"}
xref: UMLS:C5680182 {source="MEDGEN:1830101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002409 {source="DOID:0050563", source="EFO:0009076/inferred", source="MONDO:Redundant", source="Orphanet:87884/inferred"} ! auditory system disorder
is_a: MONDO:0005365 {source="EFO:0009076/inferred", source="MESH:C580334/inferred", source="MONDO:Redundant", source="Orphanet:87884"} ! hearing loss disorder
intersection_of: MONDO:0005365 ! hearing loss disorder
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019047"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6410/familial-deafness" xsd:anyURI {source="GARD:0006410"}

[Term]
id: MONDO:0019498
name: tungiasis
def: "An disease or disorder caused by infection with Tunga penetrans." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="GARD:393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:879"}
subset: orphanet_rare {source="Orphanet:879"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chigger flea" RELATED [GARD:0000393]
synonym: "S penetrans" RELATED [GARD:0000393]
synonym: "Sarcopsylla penetrans" RELATED [GARD:0000393]
synonym: "T penetrans" RELATED [GARD:0000393]
synonym: "Tunga penetrans" RELATED [GARD:0000393]
synonym: "Tunga penetrans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Tunga penetrans disease or disorder" EXACT []
synonym: "Tunga penetrans infectious disease" EXACT []
xref: DOID:0050266 {source="MONDO:equivalentTo"}
xref: EFO:1001445 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:393 {source="MONDO:GARD"}
xref: ICD10CM:B88.1 {source="Orphanet:879", source="Orphanet:879/e"}
xref: icd11.foundation:2076748409 {source="MONDO:equivalentTo", source="Orphanet:879"}
xref: ICD9:134.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058285 {source="MONDO:equivalentTo", source="Orphanet:879", source="Orphanet:879/e"}
xref: Orphanet:879 {source="MONDO:equivalentTo"}
xref: SCTID:64612002 {source="MONDO:equivalentTo"}
xref: UMLS:C0277356 {source="MEDGEN:78823", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002875 {source="DOID:0050266", source="MESH:D058285/inferred"} ! parasitic ectoparasitic infectious disease
is_a: MONDO:0005093 {source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0005135 {source="MONDO:Redundant", source="Orphanet:879"} ! parasitic infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:214035 ! Tunga penetrans
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577", source="MONDO:0019519"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/393/tungiasis" xsd:anyURI {source="GARD:0000393"}

[Term]
id: MONDO:0019499
name: Turner syndrome
def: "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." [Orphanet:881]
subset: gard_rare {source="GARD:7831", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1806", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:881"}
subset: ordo_malformation_syndrome {source="Orphanet:881"}
subset: orphanet_rare {source="Orphanet:881"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "45, X syndrome" RELATED [GARD:0007831]
synonym: "45,X gonadal dysgenesis" EXACT [NCIT:C26900]
synonym: "45,X syndrome" EXACT [Orphanet:881]
synonym: "45,X/46,XX syndrome" EXACT [Orphanet:881]
synonym: "45,X0 syndrome" EXACT [NCIT:C26900]
synonym: "45X syndrome" EXACT [NCIT:C26900]
synonym: "Bonnevie-Ullrich syndrome" RELATED [DOID:3491]
synonym: "chromosome X monosomy X" RELATED [GARD:0007831]
synonym: "genital dwarfism" RELATED [GARD:0002458]
synonym: "genital dwarfism, Turner type" RELATED [GARD:0002459]
synonym: "gonadal dysgenesis" BROAD [NCIT:C26900]
synonym: "gonadal dysgenesis (45,X)" RELATED [GARD:0007831]
synonym: "gonadal dysgenesis - Turner" EXACT [DOID:3491]
synonym: "gonadal dysgenesis Turner type" RELATED [GARD:0002540]
synonym: "karyotype 45, X" EXACT [DOID:3491]
synonym: "monosomy X" NARROW [DOID:3491, NCIT:C36630]
synonym: "monosomy X syndrome" EXACT [DOID:3491]
synonym: "Schereshevkii Turner syndrome" RELATED [GARD:0007831]
synonym: "Turner Varny syndrome" RELATED [GARD:0007831]
synonym: "Ullrich-Turner syndrome" RELATED [GARD:0007831]
synonym: "XO syndrome" EXACT [DOID:3491]
xref: DOID:3491 {source="MONDO:equivalentTo"}
xref: GARD:7831 {source="MONDO:GARD"}
xref: ICD10CM:Q96 {source="DOID:3491"}
xref: ICD10CM:Q96.0 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881", source="DOID:3491"}
xref: ICD10CM:Q96.1 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"}
xref: ICD10CM:Q96.2 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"}
xref: ICD10CM:Q96.3 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"}
xref: ICD10CM:Q96.4 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"}
xref: ICD10CM:Q96.8 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"}
xref: ICD10CM:Q96.9 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881", source="DOID:3491"}
xref: icd11.foundation:1987089698 {source="MONDO:equivalentTo", source="Orphanet:881"}
xref: ICD9:758.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10045181 {source="Orphanet:881/e", source="Orphanet:881"}
xref: MEDGEN:21734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014424 {source="Orphanet:881/e", source="MONDO:equivalentTo", source="Orphanet:881", source="DOID:3491"}
xref: NANDO:2200410 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26900 {source="MONDO:equivalentTo", source="DOID:3491"}
xref: NCIT:C34434 {source="DOID:3491"}
xref: NCIT:C85210 {source="DOID:3491"}
xref: NORD:1806 {source="MONDO:NORD"}
xref: Orphanet:881 {source="MONDO:equivalentTo"}
xref: SCTID:157020008 {source="DOID:3491"}
xref: SCTID:205685008 {source="DOID:3491"}
xref: SCTID:205691005 {source="DOID:3491"}
xref: SCTID:254279009 {source="DOID:3491"}
xref: SCTID:268299006 {source="DOID:3491"}
xref: SCTID:268356004 {source="DOID:3491"}
xref: SCTID:38804009 {source="MONDO:equivalentTo", source="DOID:3491"}
xref: UMLS:C0041408 {source="MEDGEN:21734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001967 {source="DOID:3491", source="MESH:D014424", source="NCIT:C26900"} ! gonadal dysgenesis
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0017975 {source="MESH:D014424", source="Orphanet:881"} ! sex chromosome disorder of sex development
is_a: MONDO:0019852 {source="Orphanet:881"} ! inherited primary ovarian failure
relationship: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:881", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism" xsd:anyURI {source="GARD:0002458"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type" xsd:anyURI {source="GARD:0002540"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome" xsd:anyURI {source="GARD:0007831"}

[Term]
id: MONDO:0019500
name: extragonadal teratoma
def: "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor." [Orphanet:883]
subset: gard_rare {source="GARD:18711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:883"}
subset: orphanet_rare {source="Orphanet:883"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:18711 {source="MONDO:GARD"}
xref: MedDRA:10043276 {source="Orphanet:883/e", source="Orphanet:883"}
xref: MEDGEN:1646497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013724 {source="MONDO:relatedTo", source="Orphanet:883/e", source="Orphanet:883"}
xref: Orphanet:883 {source="MONDO:equivalentTo"}
xref: SCTID:768937006 {source="MONDO:equivalentTo"}
xref: UMLS:C4708601 {source="MEDGEN:1646497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020539 {source="Orphanet:883"} ! extragonadal non-dysgerminomatous germ cell tumor

[Term]
id: MONDO:0019501
name: Usher syndrome
def: "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." [Orphanet:886]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'nervous system disorder' (MONDO:0005071) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:7843", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1816", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:886"}
subset: orphanet_rare {source="Orphanet:886"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness-retinitis pigmentosa syndrome" NARROW [GARD:0007843]
synonym: "dystrophia retinae pigmentosa-dysostosis syndrome" RELATED [GARD:0007843]
synonym: "Graefe-Usher syndrome" RELATED [GARD:0007843]
synonym: "Hallgren syndrome" RELATED [GARD:0007843]
synonym: "retinitis pigmentosa-deafness syndrome" NARROW [Orphanet:886]
synonym: "ush" EXACT [Orphanet:886]
synonym: "Usher's syndrome" EXACT [GARD:0007843]
xref: DOID:0050439 {source="MONDO:equivalentTo"}
xref: GARD:7843 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:886/attributed", source="Orphanet:886/ntbt", source="MONDO:relatedTo", source="Orphanet:886"}
xref: icd11.foundation:1452641873 {source="Orphanet:886", source="MONDO:equivalentTo"}
xref: MedDRA:10063396 {source="Orphanet:886", source="Orphanet:886/e"}
xref: MEDGEN:78754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052245 {source="Orphanet:886", source="MONDO:equivalentTo", source="Orphanet:886/e", source="DOID:0050439"}
xref: NANDO:1200941 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85217 {source="MONDO:equivalentTo", source="DOID:0050439"}
xref: NORD:1816 {source="MONDO:NORD"}
xref: OMIMPS:276900 {source="MONDO:equivalentTo", source="DOID:0050439"}
xref: Orphanet:886 {source="MONDO:equivalentTo", source="DOID:0050439"}
xref: SCTID:57838006 {source="DOID:0050439"}
xref: SCTID:73119000 {source="DOID:0050439"}
xref: UMLS:C0271097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78754"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85217", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:0050439", source="MONDO:Redundant"} ! autosomal recessive disease
relationship: has_characteristic HP:0000007 {source="Orphanet:886"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:276900"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0019502
name: autosomal recessive non-syndromic intellectual disability
def: "Autosomal recessive form of non-syndromic intellectual disability." [MONDO:patterns/autosomal_recessive]
comment: Editor note: misclassified in Orphanet: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407
subset: gard_rare {source="GARD:18643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88616"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-NSID" EXACT [Orphanet:88616]
synonym: "autosomal recessive intellectual disability" EXACT [DOID:0060308]
synonym: "autosomal recessive mental retardation" EXACT DEPRECATED [DOID:0060308]
synonym: "autosomal recessive non-syndromic intellectual disability" EXACT [DOID:0060308]
synonym: "autosomal recessive non-syndromic mental retardation" EXACT DEPRECATED [DOID:0060308]
synonym: "intellectual disability, autosomal recessive" EXACT [OMIMPS:249500]
synonym: "mental retardation, autosomal recessive" EXACT DEPRECATED [OMIMPS:249500]
synonym: "non-syndromic intellectual disability, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
synonym: "NS-ARID" EXACT [Orphanet:88616]
xref: DOID:0060308 {source="MONDO:equivalentTo"}
xref: GARD:18643 {source="MONDO:GARD"}
xref: MEDGEN:1826073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:249500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:88616 {source="MONDO:equivalentTo", source="DOID:0060308"}
xref: UMLS:C5680181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826073"}
is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:88616"} ! non-syndromic intellectual disability
is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption
intersection_of: MONDO:0000509 ! non-syndromic intellectual disability
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015108"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:249500"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/monarch-disease-ontology/issues/407" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019503
name: anterior segment dysgenesis
def: "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." [https://www.aao.org/bcscsnippetdetail.aspx?id=42ca606e-d460-4bd1-91e7-6b1929600ab0]
subset: disease_grouping
subset: gard_rare {source="GARD:10025", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:88632"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025]
synonym: "anterior segment ocular dysgenesis" EXACT [GARD:0010025]
synonym: "ASGD" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "ASMD" EXACT ABBREVIATION [GARD:0010025]
synonym: "ASOD" EXACT ABBREVIATION [GARD:0010025]
synonym: "familial ocular anterior segment mesenchymal dysgenesis" EXACT [GARD:0010025]
synonym: "FOXE3-related ocular disorder" RELATED EXCLUDE [GARD:0010025]
xref: DOID:0060648 {source="MONDO:equivalentTo"}
xref: GARD:10025 {source="MONDO:GARD"}
xref: ICD10CM:Q13.8 {source="Orphanet:88632", source="Orphanet:88632/attributed", source="Orphanet:88632/ntbt"}
xref: icd11.foundation:943599144 {source="Orphanet:88632", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:743.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:350766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201000 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:107250 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:88632 {source="GARD:0010025", source="MONDO:equivalentTo"}
xref: SCTID:65075004 {source="MONDO:equivalentTo"}
xref: UMLS:C1862839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350766"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:88632", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:107250"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019504
name: superior limbic keratoconjunctivitis
def: "Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both." [https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis]
subset: gard_rare {source="GARD:10940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:88633"}
subset: orphanet_rare {source="Orphanet:88633"}
subset: rare
synonym: "SLK" EXACT ABBREVIATION [Orphanet:88633]
synonym: "Theodore's superior limbic keratoconjunctivitis" EXACT [Orphanet:88633]
synonym: "Theodore's syndrome" EXACT [Orphanet:88633]
synonym: "Theodores superior limbic keratoconjunctivitis" RELATED [GARD:0010940]
synonym: "Theodores syndrome" RELATED [GARD:0010940]
xref: GARD:10940 {source="MONDO:GARD"}
xref: ICD10CM:H16.2 {source="Orphanet:88633/ntbt", source="MONDO:relatedTo", source="Orphanet:88633"}
xref: ICD9:370.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:573037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:88633 {source="MONDO:equivalentTo"}
xref: SCTID:231903005 {source="MONDO:equivalentTo"}
xref: UMLS:C0339229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573037"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis" xsd:anyURI {source="GARD:0010940"}

[Term]
id: MONDO:0019505
name: obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
def: "OBSOLETE. Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterized by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." [Orphanet:88637]
subset: ordo_subtype_of_a_disorder {source="Orphanet:88637"}
subset: otar {source="MONDO:OTAR"}
synonym: "4H syndrome" EXACT [Orphanet:88637]
xref: GARD:16771 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.1 {source="Orphanet:88637", source="Orphanet:88637/attributed", source="Orphanet:88637/ntbt"}
xref: Orphanet:88637 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0011897 {source="Orphanet:88637", source="Orphanet:88637/ntbt", source="https://orcid.org/0000-0001-5208-3432"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019506
name: obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
def: "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." [Orphanet:88643]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:19092", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:88643"}
subset: orphanet_rare {source="Orphanet:88643"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19092 {source="MONDO:GARD"}
xref: MEDGEN:928548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:88643 {source="MONDO:equivalentTo"}
xref: SCTID:722051004 {source="MONDO:equivalentTo"}
xref: UMLS:C4302879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928548"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0019507
name: amelogenesis imperfecta
def: "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body." [Orphanet:88661]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:765"}
subset: ordo_disorder {source="Orphanet:88661"}
subset: orphanet_rare {source="Orphanet:88661"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: CSP:0828-0533 {source="DOID:2187"}
xref: DOID:2187 {source="MONDO:equivalentTo"}
xref: GARD:5791 {source="MONDO:GARD"}
xref: ICD10CM:K00.5 {source="DOID:2187", source="Orphanet:88661/ntbt", source="Orphanet:88661/inclusion", source="Orphanet:88661"}
xref: icd11.foundation:1923123066 {source="MONDO:equivalentTo", source="Orphanet:88661"}
xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000567 {source="DOID:2187", source="Orphanet:88661/e", source="MONDO:equivalentTo", source="Orphanet:88661"}
xref: NORD:765 {source="MONDO:NORD"}
xref: OMIMPS:104500 {source="DOID:2187", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:88661 {source="DOID:2187", source="MONDO:equivalentTo"}
xref: SCTID:78494001 {source="DOID:2187", source="MONDO:equivalentTo"}
xref: UMLS:C0002452 {source="MEDGEN:240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004038 {source="DOID:2187", source="MESH:D000567"} ! dental enamel hypoplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:104500"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta" xsd:anyURI {source="GARD:0005791"}

[Term]
id: MONDO:0019508
name: van der Woude syndrome
def: "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." [Orphanet:888]
subset: gard_rare {source="GARD:8414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:888"}
subset: ordo_malformation_syndrome {source="Orphanet:888"}
subset: orphanet_rare {source="Orphanet:888"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cleft lip and/or palate with mucous cysts of lower lip" RELATED [GARD:0008414]
synonym: "cleft lip/palate with mucous cysts of lower lip" EXACT [Orphanet:888]
synonym: "lip pit syndrome" RELATED [GARD:0008414]
synonym: "lip-pit syndrome" EXACT [DOID:0060239, Orphanet:888]
synonym: "LPS" RELATED ABBREVIATION [GARD:0008414]
synonym: "VWS" EXACT ABBREVIATION [Orphanet:888]
xref: DOID:0060239 {source="MONDO:equivalentTo"}
xref: GARD:8414 {source="MONDO:GARD"}
xref: ICD10CM:Q38.0 {source="Orphanet:888/inclusion", source="Orphanet:888/ntbt", source="Orphanet:888", source="DOID:0060239"}
xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:61233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536528 {source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239", source="Orphanet:888/e"}
xref: MESH:C563529 {source="DOID:0060239"}
xref: NCIT:C74986 {source="MONDO:equivalentTo", source="DOID:0060239"}
xref: OMIM:604547 {source="Orphanet:888/btnt", source="MONDO:relatedTo", source="Orphanet:888"}
xref: Orphanet:888 {source="MONDO:equivalentTo", source="DOID:0060239"}
xref: SCTID:79261008 {source="MONDO:equivalentTo", source="DOID:0060239"}
xref: UMLS:C0175697 {source="MEDGEN:61233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0060239", source="NCIT:C74986"} ! syndromic disease
is_a: MONDO:0015161 {source="Orphanet:888"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:1040010 {source="PMID:12920575", source="PMID:14618417", source="PMID:14757865", source="PMID:18478600", source="PMID:19842205", source="PMID:20184620", source="PMID:33906476"} ! IRF6-related condition
relationship: disease_has_feature HP:0000175 {source="MONDO:Wikidata"} ! Cleft palate
relationship: disease_has_feature HP:0100267 {source="MONDO:Wikidata"} ! Lip pit
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:888", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations

[Term]
id: MONDO:0019509
name: cutaneous leukocytoclastic angiitis
def: "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms." [Orphanet:889]
subset: gard_rare {source="GARD:7851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:889"}
subset: orphanet_rare {source="Orphanet:889"}
subset: rare
synonym: "cutaneous hypersensitivity vasculitis" EXACT [Orphanet:889]
synonym: "cutaneous leukocytoclastic vasculitis" EXACT [Orphanet:889]
synonym: "cutaneous small vessel vasculitis" EXACT [Orphanet:889]
synonym: "cutaneous small-vessel vasculitis" EXACT [NCIT:C122919]
synonym: "hypersensitivity angiitis" EXACT [Orphanet:889]
synonym: "leukocytoclastic angiitis" RELATED [GARD:0007851]
xref: GARD:7851 {source="MONDO:GARD"}
xref: ICD10CM:M31.0 {source="Orphanet:889/ntbt", source="Orphanet:889"}
xref: icd11.foundation:71458216 {source="Orphanet:889", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:881641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122919 {source="MONDO:equivalentTo"}
xref: Orphanet:889 {source="MONDO:equivalentTo"}
xref: SCTID:718217000 {source="MONDO:equivalentTo"}
xref: UMLS:C4049638 {source="MEDGEN:881641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015491 {source="Orphanet:889"} ! immune complex mediated vasculitis

[Term]
id: MONDO:0019510
name: obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia
comment: This was a duplicate with autosomal dominant medullary cystic kidney disease without hyperuricemia.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1878" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020726

[Term]
id: MONDO:0019511
name: obsolete autosomal dominant medullary cystic kidney disease with hyperuricemia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4444" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008073

[Term]
id: MONDO:0019512
name: congenital heart malformation
def: "A disease that has its basis in the disruption of heart development." [MONDO:patterns/basis_in_disruption_of_process]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:88991"}
subset: otar {source="MONDO:OTAR"}
synonym: "congenital heart malformation" EXACT [MONDO:0005472]
synonym: "congenital non-syndromic heart malformation" RELATED [Orphanet:88991]
synonym: "disorder of heart development" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "heart development disease" EXACT [MONDO:design_pattern]
synonym: "rare congenital non-syndromic heart malformation" RELATED [Orphanet:88991]
xref: EFO:0005269 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1680993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:88991 {source="MONDO:equivalentTo"}
xref: UMLS:C3649636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680993"}
is_a: MONDO:0004995 {source="EFO:0005269/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! cardiovascular disorder
is_a: MONDO:0024239 ! congenital anomaly of cardiovascular system
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0007507 ! heart development
relationship: disease_has_location UBERON:0004535 {source="EFO:0000784"} ! cardiovascular system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020003"} ! rare

[Term]
id: MONDO:0019513
name: obsolete esophageal malformation
subset: ordo_group_of_disorders {source="Orphanet:88993"}
xref: GARD:19095 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1999264345 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:88993"}
xref: Orphanet:88993 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019514
name: hepatic veno-occlusive disease
def: "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins." [Orphanet:890]
subset: gard_rare {source="GARD:13004", source="MONDO:GARD"}
subset: nord_rare {source="NORD:879", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:890"}
subset: orphanet_rare {source="Orphanet:890"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Budd Chiari Syndrome" EXACT [NORD:879]
synonym: "hepatic Vod" EXACT [Orphanet:890]
synonym: "liver veno-occlusive disease" EXACT [NCIT:C26793]
synonym: "sinusoidal obstruction syndrome" EXACT [Orphanet:890]
synonym: "veno-occlusive disease" RELATED [DOID:0080177]
xref: DOID:0080177 {source="MONDO:equivalentTo"}
xref: GARD:13004 {source="MONDO:GARD"}
xref: ICD10CM:K76.5 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"}
xref: icd11.foundation:762044088 {source="MONDO:equivalentTo", source="Orphanet:890"}
xref: ICD9:453.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10047216 {source="Orphanet:890/e", source="Orphanet:890"}
xref: MEDGEN:5514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006504 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"}
xref: NCIT:C26793 {source="MONDO:equivalentTo"}
xref: NORD:879 {source="MONDO:NORD"}
xref: Orphanet:890 {source="MONDO:equivalentTo"}
xref: SCTID:65617004 {source="MONDO:equivalentTo"}
xref: UMLS:C0019156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5514"}
is_a: MONDO:0002405 {source="DOID:0080177", source="NCIT:C26793"} ! hepatic vascular disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease" xsd:anyURI {source="GARD:0013004"}

[Term]
id: MONDO:0019515
name: obsolete rare dementia
def: "OBSOLETE. Rare dementia." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:89043"}
synonym: "rare dementia" EXACT [MONDO:patterns/rare]
xref: GARD:19096 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:89043 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001627

[Term]
id: MONDO:0019516
name: exudative vitreoretinopathy
def: "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." [Orphanet:891]
subset: gard_rare {source="GARD:1613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:891"}
subset: orphanet_rare {source="Orphanet:891"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Criswick-Schepens syndrome" EXACT [Orphanet:891]
synonym: "exudative vitreoretinopathy, familial" RELATED [GARD:0001613]
synonym: "familial exudative vitreoretinopathy" EXACT [DOID:0050535]
synonym: "FEVR" EXACT ABBREVIATION [DOID:0050535, Orphanet:891]
xref: DOID:0050535 {source="MONDO:equivalentTo"}
xref: GARD:1613 {source="MONDO:GARD"}
xref: ICD10CM:H35.0 {source="Orphanet:891/inclusion", source="Orphanet:891/ntbt", source="Orphanet:891"}
xref: ICD10CM:H35.00 {source="DOID:0050535"}
xref: ICD9:362.10 {source="DOID:0050535"}
xref: MEDGEN:573220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536382 {source="Orphanet:891/e", source="Orphanet:891"}
xref: MESH:C580083 {source="MONDO:equivalentTo"}
xref: OMIMPS:133780 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:891 {source="DOID:0050535", source="MONDO:equivalentTo"}
xref: SCTID:193355009 {source="DOID:0050535"}
xref: SCTID:232063007 {source="MONDO:equivalentTo"}
xref: SCTID:31411005 {source="DOID:0050535"}
xref: SCTID:42873008 {source="DOID:0050535"}
xref: UMLS:C0339539 {source="MEDGEN:573220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002311 {source="DOID:0050535"} ! retinal vascular disorder
is_a: MONDO:0020248 {source="Orphanet:891"} ! vitreoretinal degeneration
relationship: disease_has_location UBERON:0004864 ! vasculature of retina
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:133780"} ! inherited

[Term]
id: MONDO:0019517
name: Waardenburg syndrome type 2
def: "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." [Orphanet:895]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:5520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:895"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Waardenburg syndrome type 2" EXACT CLINGEN_LABEL []
synonym: "Waardenburg syndrome type II" EXACT [Orphanet:895]
synonym: "WS 2" RELATED [GARD:0005520]
synonym: "WS type 2" RELATED [GARD:0005520]
synonym: "WS2" EXACT ABBREVIATION [Orphanet:895]
xref: GARD:5520 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:895", source="MONDO:relatedTo", source="Orphanet:895/attributed", source="Orphanet:895/ntbt"}
xref: MEDGEN:398443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536463 {source="Orphanet:895", source="MONDO:equivalentTo", source="Orphanet:895/e"}
xref: NCIT:C75009 {source="MONDO:equivalentTo"}
xref: Orphanet:895 {source="MONDO:equivalentTo"}
xref: UMLS:C2700265 {source="MONDO:equivalentTo", source="MEDGEN:398443", source="MONDO:MEDGEN"}
is_a: MONDO:0018094 {source="NCIT:C75009", source="Orphanet:895"} ! Waardenburg syndrome
relationship: has_characteristic HP:0000006 {source="Orphanet:895"} ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2" xsd:anyURI {source="GARD:0005520"}

[Term]
id: MONDO:0019518
name: Waardenburg-Shah syndrome
def: "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease." [Orphanet:897]
subset: gard_rare {source="GARD:5524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:897"}
subset: orphanet_rare {source="Orphanet:897"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hirschsprung disease with pigmentary anomaly" RELATED [GARD:0005524]
synonym: "Shah-Waardenburg syndrome" EXACT [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, Orphanet:897]
synonym: "Waardenburg syndrome type 4" EXACT [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, NCIT:C124842, Orphanet:897]
synonym: "Waardenburg syndrome type IV" EXACT [NCIT:C124842]
synonym: "Waardenburg-Hirschsprung disease" RELATED [GARD:0005524]
synonym: "Waardenburg-Hirschsprung syndrome" EXACT [GARD:0005524, Orphanet:897]
synonym: "Waardenburg-Shah syndrome" EXACT [GARD:0005524, NCIT:C124842]
synonym: "WS4" EXACT ABBREVIATION [Orphanet:897]
xref: GARD:5524 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:897/attributed", source="Orphanet:897/ntbt", source="Orphanet:897"}
xref: icd11.foundation:1420151003 {source="Orphanet:897", source="MONDO:equivalentTo"}
xref: NCIT:C124842 {source="MONDO:equivalentTo"}
xref: Orphanet:897 {source="GARD:0005524", source="MONDO:equivalentTo"}
is_a: MONDO:0018094 {source="NCIT:C124842"} ! Waardenburg syndrome
is_a: MONDO:0021189 {source="Orphanet:897"} ! intestinal motility disease
is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0019290 {source="Orphanet:897", source="https://orcid.org/0000-0001-5208-3432"} ! hypopigmentation of the skin
relationship: has_characteristic HP:0000006 {source="Orphanet:897"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4" xsd:anyURI {source="GARD:0005524"}

[Term]
id: MONDO:0019519
name: obsolete rare skin disease
def: "OBSOLETE. Rare skin disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:89826"}
synonym: "rare skin disease" EXACT [MONDO:patterns/rare]
xref: GARD:22510 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:89826 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005093

[Term]
id: MONDO:0019520
name: obsolete syndromic lymphedema
def: "OBSOLETE. A lymphedema that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: otar {source="MONDO:OTAR"}
synonym: "syndrome associated with lymphedema" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic lymphedema" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:89832 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019521
name: centripetalis recessive dystrophic epidermolysis bullosa
def: "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk." [Orphanet:89841]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "centripetal dystrophic epidermolysis bullosa" EXACT [Orphanet:89841]
synonym: "centripetal recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:89841]
synonym: "RDEB, centripetalis" EXACT [Orphanet:89841]
synonym: "RDEB-Ce" EXACT [Orphanet:89841]
xref: ICD10CM:Q81.2 {source="Orphanet:89841", source="Orphanet:89841/attributed", source="Orphanet:89841/ntbt"}
xref: MEDGEN:1377762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:89841 {source="MONDO:equivalentObsolete"}
xref: SCTID:725419003 {source="MONDO:equivalentTo"}
xref: UMLS:C4511056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1377762"}
is_a: MONDO:0006543 {source="Orphanet:89841"} ! epidermolysis bullosa dystrophica

[Term]
id: MONDO:0019522
name: recessive dystrophic epidermolysis bullosa-generalized other
def: "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." [Orphanet:89842]
subset: gard_rare {source="GARD:12794", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:89842"}
subset: orphanet_rare {source="Orphanet:89842"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis" EXACT [Orphanet:89842]
synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalised other" EXACT OMO:0003005 []
synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalized other" EXACT [Orphanet:89842]
synonym: "generalised mitis RDEB" EXACT OMO:0003005 []
synonym: "generalized mitis RDEB" EXACT [Orphanet:89842]
synonym: "RDEB generalisata mitis" EXACT [Orphanet:89842]
synonym: "RDEB, generalised intermediate" EXACT OMO:0003005 []
synonym: "RDEB, generalized intermediate" EXACT [Orphanet:89842]
synonym: "RDEB, non-Hallopeau-Siemens type" EXACT [Orphanet:89842]
synonym: "RDEB-generalized other" EXACT [Orphanet:89842]
synonym: "RDEB-O" EXACT [Orphanet:89842]
synonym: "recessive dystrophic epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 []
synonym: "recessive dystrophic epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:89842]
synonym: "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" EXACT [Orphanet:89842]
xref: GARD:12794 {source="MONDO:GARD"}
xref: ICD10CM:Q81.2 {source="Orphanet:89842", source="Orphanet:89842/attributed", source="Orphanet:89842/ntbt"}
xref: MEDGEN:1392226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:89842 {source="MONDO:equivalentTo"}
xref: UMLS:C4511044 {source="MEDGEN:1392226", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006543 {source="Orphanet:89842"} ! epidermolysis bullosa dystrophica
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12794/recessive-dystrophic-epidermolysis-bullosa-generalized-other" xsd:anyURI {source="GARD:0012794"}

[Term]
id: MONDO:0019523
name: obsolete Walker-Warburg syndrome
comment: These are considered equivalent in OMIM.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1223" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000171

[Term]
id: MONDO:0019524
name: Bartter syndrome type 4
def: "A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent." [Orphanet:89938]
subset: gard_rare {source="GARD:10508", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:89938"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bartter syndrome type 4" EXACT [Orphanet:89938]
synonym: "Bartter syndrome type IV" EXACT [Orphanet:89938]
synonym: "Bartter syndrome with sensorineural deafness" EXACT [GARD:0010508, Orphanet:89938]
xref: GARD:10508 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="Orphanet:89938", source="Orphanet:89938/attributed", source="Orphanet:89938/ntbt"}
xref: MEDGEN:824706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:89938 {source="MONDO:equivalentTo"}
xref: SCTID:700112007 {source="MONDO:equivalentTo"}
xref: UMLS:C3838860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:824706"}
is_a: MONDO:0015231 {source="Orphanet:89938"} ! Bartter syndrome
relationship: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0019525
name: tetrasomy X
def: "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." [Orphanet:9]
subset: gard_rare {source="GARD:7754", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:9"}
subset: ordo_malformation_syndrome {source="Orphanet:9"}
subset: orphanet_rare {source="Orphanet:9"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "48 XXXX" RELATED [GARD:0007754]
synonym: "48 XXXX syndrome" RELATED [GARD:0007754]
synonym: "48,XXXX syndrome" EXACT [Orphanet:9]
synonym: "quadruple X" EXACT [Orphanet:9]
synonym: "tetra X" EXACT [Orphanet:9]
synonym: "tetrasomy type X" EXACT [MONDORULE:1, Orphanet:9]
xref: GARD:7754 {source="MONDO:GARD"}
xref: ICD10CM:Q97.1 {source="Orphanet:9/attributed", source="Orphanet:9/ntbt", source="Orphanet:9"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536502 {source="Orphanet:9", source="MONDO:equivalentTo", source="Orphanet:9/e"}
xref: Orphanet:9 {source="MONDO:equivalentTo"}
xref: SCTID:10567003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120544"}
is_a: MONDO:0019852 {source="Orphanet:9"} ! inherited primary ovarian failure
is_a: MONDO:0030502 {source="https://orcid.org/0000-0002-4142-7153"} ! tetrasomy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x" xsd:anyURI {source="GARD:0007754"}

[Term]
id: MONDO:0019526
name: erythema elevatum diutinum
def: "Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses." [Orphanet:90000]
subset: gard_rare {source="GARD:8653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90000"}
subset: orphanet_rare {source="Orphanet:90000"}
subset: rare
xref: DOID:0060567 {source="MONDO:equivalentTo"}
xref: GARD:8653 {source="MONDO:GARD"}
xref: ICD10CM:L95.1 {source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="Orphanet:90000/e"}
xref: ICD9:695.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10056968 {source="Orphanet:90000", source="Orphanet:90000/e"}
xref: MEDGEN:75517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535509 {source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="Orphanet:90000/e"}
xref: Orphanet:90000 {source="DOID:0060567", source="MONDO:equivalentTo"}
xref: SCTID:58872001 {source="MONDO:equivalentTo"}
xref: UMLS:C0263398 {source="MONDO:equivalentTo", source="MEDGEN:75517", source="MONDO:MEDGEN"}
is_a: MONDO:0015491 {source="Orphanet:90000"} ! immune complex mediated vasculitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum" xsd:anyURI {source="GARD:0008653"}

[Term]
id: MONDO:0019527
name: undifferentiated connective tissue syndrome
def: "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases." [NCIT:C116776]
subset: gard_rare {source="GARD:19097", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90002"}
subset: orphanet_rare {source="Orphanet:90002"}
subset: rare
synonym: "UCTD" EXACT ABBREVIATION [Orphanet:90002]
synonym: "undifferentiated connective tissue disease" EXACT [NCIT:C116776]
xref: GARD:19097 {source="MONDO:GARD"}
xref: ICD10CM:M35.8 {source="Orphanet:90002", source="Orphanet:90002/ntbt"}
xref: MedDRA:10071575 {source="Orphanet:90002", source="Orphanet:90002/e"}
xref: MEDGEN:592754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116776 {source="MONDO:equivalentTo"}
xref: Orphanet:90002 {source="MONDO:equivalentTo"}
xref: SCTID:239918008 {source="MONDO:equivalentTo"}
xref: UMLS:C0409999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:592754"}
is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C116776"} ! autoimmune disease

[Term]
id: MONDO:0019528
name: inflammatory pseudotumor of the liver
def: "Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion." [Orphanet:90003]
subset: gard_rare {source="GARD:19098", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90003"}
subset: orphanet_rare {source="Orphanet:90003"}
subset: rare
synonym: "IgG4-related hepatopathy" EXACT DEPRECATED []
xref: GARD:19098 {source="MONDO:GARD"}
xref: ICD10CM:K75.8 {source="Orphanet:90003", source="Orphanet:90003/ntbt"}
xref: Orphanet:90003 {source="MONDO:equivalentTo"}
is_a: MONDO:0024477 {source="https://orcid.org/0000-0002-4142-7153"} ! liver and intrahepatic bile duct neoplasm
relationship: excluded_subClassOf MONDO:0017287 {source="https://orcid.org/0000-0001-5208-3432"} ! IgG4-related disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4759" xsd:anyURI

[Term]
id: MONDO:0019529
name: radiation myelitis
def: "A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/]
subset: gard_rare {source="GARD:19099", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90021"}
subset: orphanet_rare {source="Orphanet:90021"}
subset: rare
synonym: "delayed radiation myelopathy" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/]
synonym: "radiation myelopathy" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613644/]
xref: GARD:19099 {source="MONDO:GARD"}
xref: ICD10CM:G97.8 {source="Orphanet:90021/ntbt", source="Orphanet:90021"}
xref: ICD9:336.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1638362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90021 {source="MONDO:equivalentTo"}
xref: SCTID:26037005 {source="MONDO:equivalentTo"}
xref: UMLS:C4706614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638362"}
is_a: MONDO:0002545 {source="https://orcid.org/0000-0002-4142-7153"} ! spinal cord disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0019530
name: non-syndromic syndactyly
def: "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly." [NCIT:C87125]
comment: Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:90025"}
subset: otar {source="MONDO:OTAR"}
synonym: "chromosome 2q35 duplication syndrome" NARROW [DOID:11193, OMIM:185900]
synonym: "isolated syndactyly" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic syndactyly" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "symphalangism" RELATED [DOID:11193]
synonym: "symphalangy" RELATED [DOID:11193]
synonym: "syndactyly" RELATED [MONDO:ambiguous]
synonym: "webbing of digits" RELATED [DOID:11193]
xref: ICD10CM:Q70.0 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"}
xref: ICD10CM:Q70.1 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"}
xref: ICD10CM:Q70.2 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"}
xref: ICD10CM:Q70.3 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"}
xref: ICD10CM:Q70.4 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"}
xref: ICD10CM:Q70.9 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"}
xref: icd11.foundation:1736296640 {source="MONDO:equivalentTo", source="Orphanet:90025", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10042778 {source="Orphanet:90025/e"}
xref: MEDGEN:1842957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013576 {source="Orphanet:90025/e"}
xref: NCIT:C87125 {source="MONDO:equivalentTo"}
xref: Orphanet:90025 {source="MONDO:equivalentTo", source="DOID:11193"}
xref: UMLS:C5681365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842957"}
is_a: MONDO:0021002 {source="https://orcid.org/0000-0001-5208-3432"} ! syndactyly
relationship: disease_has_feature HP:0001159 ! Syndactyly
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4051" xsd:anyURI

[Term]
id: MONDO:0019531
name: hemolytic anemia due to glutathione reductase deficiency
alt_id: MONDO:0032856
def: "Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes." [Orphanet:90030]
subset: gard_rare {source="GARD:16784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90030"}
subset: orphanet_rare {source="Orphanet:90030"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660]
xref: GARD:16784 {source="MONDO:GARD"}
xref: ICD10CM:D55.1 {source="Orphanet:90030/attributed", source="Orphanet:90030/ntbt", source="Orphanet:90030"}
xref: MEDGEN:1684855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618660 {source="MONDO:equivalentTo"}
xref: Orphanet:90030 {source="MONDO:equivalentTo", source="OMIM:618660"}
xref: UMLS:C5231513 {source="MEDGEN:1684855", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="Orphanet:90030"} ! hemolytic anemia
is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019532
name: autoimmune hemolytic anemia, warm type
def: "Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C)." [Orphanet:90033]
subset: gard_rare {source="GARD:7876", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1837", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90033"}
subset: orphanet_rare {source="Orphanet:90033"}
subset: rare
synonym: "wAHA" EXACT [Orphanet:90033]
synonym: "wAIHA" EXACT [Orphanet:90033]
synonym: "warm AIHA" EXACT [Orphanet:90033]
synonym: "warm antibody AIHA" RELATED [GARD:0007876]
synonym: "warm antibody autoimmune hemolytic anaemia" RELATED OMO:0003005 []
synonym: "warm antibody autoimmune hemolytic anemia" RELATED [GARD:0007876]
synonym: "warm antibody hemolytic anaemia" RELATED OMO:0003005 []
synonym: "warm antibody hemolytic anemia" RELATED [GARD:0007876]
synonym: "Warm Autoimmune Hemolytic Anemia" EXACT [NORD:1837]
synonym: "warm-reacting-antibody hemolytic anaemia" RELATED OMO:0003005 []
synonym: "warm-reacting-antibody hemolytic anemia" RELATED [GARD:0007876]
xref: GARD:7876 {source="MONDO:GARD"}
xref: ICD10CM:D59.1 {source="Orphanet:90033/ntbt", source="Orphanet:90033"}
xref: icd11.foundation:880772122 {source="Orphanet:90033", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10047822 {source="Orphanet:90033", source="Orphanet:90033/e"}
xref: MEDGEN:450541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200306 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C162611 {source="MONDO:equivalentTo"}
xref: NORD:1837 {source="MONDO:NORD"}
xref: Orphanet:90033 {source="MONDO:equivalentTo"}
xref: SCTID:3978000 {source="MONDO:equivalentTo"}
xref: UMLS:C0272118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450541"}
is_a: MONDO:0020108 {source="Orphanet:90033"} ! autoimmune hemolytic anemia

[Term]
id: MONDO:0019533
name: paroxysmal cold hemoglobinuria
def: "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." [Orphanet:90035]
subset: gard_rare {source="GARD:7335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1556"}
subset: ordo_disorder {source="Orphanet:90035"}
subset: orphanet_rare {source="Orphanet:90035"}
subset: rare
synonym: "Donath-Landsteiner hemolytic anaemia" EXACT OMO:0003005 []
synonym: "Donath-Landsteiner hemolytic anemia" EXACT [Orphanet:90035]
synonym: "Donath-Landsteiner syndrome" EXACT [Orphanet:90035]
synonym: "hemoglobinuria paroxysmal cold" RELATED [GARD:0007335]
synonym: "PCH" EXACT ABBREVIATION [Orphanet:90035]
xref: GARD:7335 {source="MONDO:GARD"}
xref: ICD10CM:D59.6 {source="Orphanet:90035", source="Orphanet:90035/ntbt"}
xref: icd11.foundation:715111132 {source="MONDO:equivalentTo", source="Orphanet:90035", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:39693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538618 {source="Orphanet:90035", source="Orphanet:90035/e"}
xref: NANDO:1200308 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200619 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1556 {source="MONDO:NORD"}
xref: Orphanet:90035 {source="MONDO:equivalentTo"}
xref: SCTID:127057004 {source="MONDO:equivalentTo"}
xref: UMLS:C0086774 {source="MEDGEN:39693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016450 {source="Orphanet:90035"} ! autoimmune hemolytic anemia, cold type

[Term]
id: MONDO:0019534
name: mixed-type autoimmune hemolytic anemia
def: "Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures." [Orphanet:90036]
subset: gard_rare {source="GARD:19101", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90036"}
subset: orphanet_rare {source="Orphanet:90036"}
subset: rare
synonym: "mixed AIHA" EXACT [Orphanet:90036]
xref: GARD:19101 {source="MONDO:GARD"}
xref: ICD10CM:D59.1 {source="Orphanet:90036", source="Orphanet:90036/ntbt"}
xref: icd11.foundation:1878239449 {source="MONDO:equivalentTo", source="Orphanet:90036", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:930926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200309 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:90036 {source="MONDO:equivalentTo"}
xref: SCTID:718716008 {source="MONDO:equivalentTo"}
xref: UMLS:C4305257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930926"}
is_a: MONDO:0020108 {source="Orphanet:90036"} ! autoimmune hemolytic anemia

[Term]
id: MONDO:0019535
name: drug-induced autoimmune hemolytic anemia
def: "Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms." [Orphanet:90037]
subset: gard_rare {source="GARD:19102", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90037"}
subset: orphanet_rare {source="Orphanet:90037"}
subset: rare
synonym: "drug-induced AIHA" EXACT [Orphanet:90037]
xref: GARD:19102 {source="MONDO:GARD"}
xref: ICD10CM:D59.0 {source="MONDO:equivalentTo", source="Orphanet:90037", source="Orphanet:90037/ntbt"}
xref: MEDGEN:580980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90037 {source="MONDO:equivalentTo"}
xref: SCTID:309742004 {source="MONDO:equivalentTo"}
xref: UMLS:C0391817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:580980"}
is_a: MONDO:0020108 {source="MONDO:Redundant", source="Orphanet:90037"} ! autoimmune hemolytic anemia
intersection_of: MONDO:0020108 ! autoimmune hemolytic anemia
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0019536
name: Shiga toxin-associated hemolytic uremic syndrome
def: "A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli." [Orphanet:90038]
subset: gard_rare {source="GARD:6588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90038"}
subset: rare
synonym: "D+HUS" EXACT [Orphanet:90038]
synonym: "D-plus hemolytic uremic syndrome (D+HUS)" RELATED [GARD:0006241]
synonym: "hemolytic-uremic syndrome with diarrhea" EXACT [Orphanet:90038]
synonym: "hemolytic-uremic syndrome with diarrhoea" EXACT OMO:0003005 []
synonym: "Shiga-like toxin-associated HUS" EXACT [Orphanet:90038]
synonym: "STEC Hemolytic Uremic Syndrome" EXACT [NORD:1809]
synonym: "Sxt-HUS" EXACT [Orphanet:90038]
synonym: "typical hemolytic-uremic syndrome" EXACT [Orphanet:90038]
synonym: "typical HUS" EXACT [Orphanet:90038]
xref: GARD:6588 {source="MONDO:GARD"}
xref: ICD10CM:D59.3 {source="Orphanet:90038/e", source="Orphanet:90038"}
xref: MEDGEN:383843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200640 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:90038 {source="MONDO:equivalentTo"}
xref: UMLS:C1856143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383843"}
is_a: MONDO:0001549 ! hemolytic-uremic syndrome
is_a: MONDO:0003664 {source="Orphanet:90038"} ! hemolytic anemia
is_a: MONDO:0034103 {source="https://orcid.org/0000-0001-5208-3432"} ! infection-related hemolytic uremic syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015911"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus" xsd:anyURI {source="GARD:0006241"}

[Term]
id: MONDO:0019537
name: hemoglobin D disease
def: "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." [Orphanet:90039]
subset: gard_rare {source="GARD:19103", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90039"}
subset: orphanet_rare {source="Orphanet:90039"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hb-D disease" EXACT [DOID:5378]
synonym: "hemoglobin D disease" EXACT [DOID:5378, NCIT:C35344]
xref: DOID:5378 {source="MONDO:equivalentTo"}
xref: GARD:19103 {source="MONDO:GARD"}
xref: ICD10CM:D58.2 {source="DOID:5378", source="Orphanet:90039", source="Orphanet:90039/attributed", source="Orphanet:90039/ntbt"}
xref: icd11.foundation:1508363690 {source="MONDO:equivalentTo", source="Orphanet:90039", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10055019 {source="Orphanet:90039/e", source="Orphanet:90039"}
xref: MEDGEN:124416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35344 {source="DOID:5378", source="MONDO:equivalentTo"}
xref: Orphanet:90039 {source="MONDO:equivalentTo"}
xref: SCTID:66729008 {source="DOID:5378", source="MONDO:equivalentTo"}
xref: UMLS:C0272080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124416"}
is_a: MONDO:0002280 {source="Orphanet:90039", source="Orphanet:90039/inferred"} ! anemia
is_a: MONDO:0019050 {source="DOID:5378", source="NCIT:C35344", source="Orphanet:90039"} ! inherited hemoglobinopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015972"} ! rare

[Term]
id: MONDO:0019538
name: Gaisbock syndrome
def: "Polycythemia that is caused by stress." [NCIT:P378]
subset: gard_rare {source="GARD:19104", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90041"}
subset: orphanet_rare {source="Orphanet:90041"}
subset: rare
synonym: "Gaisbock's syndrome" EXACT [DOID:2838]
synonym: "Gaisboeck's syndrome" RELATED [GARD:0008402]
synonym: "GaisböCK syndrome" RELATED [Orphanet:90041]
synonym: "polycythemia, emotional" EXACT [DOID:2838]
synonym: "Pseudopolycythaemia" RELATED [GARD:0008402]
synonym: "Pseudopolycythemia" RELATED [GARD:0008402]
synonym: "stress erythrocytosis" EXACT [Orphanet:90041]
synonym: "stress polycythemia" EXACT [DOID:2838, MONDO:0002439, NCIT:C27174, Orphanet:90041]
xref: DOID:2838 {source="MONDO:equivalentTo"}
xref: GARD:19104 {source="MONDO:GARD"}
xref: ICD10CM:D75.1 {source="Orphanet:90041/ntbt", source="Orphanet:90041", source="DOID:2838"}
xref: MedDRA:10042217 {source="Orphanet:90041", source="Orphanet:90041/e"}
xref: MedDRA:10053885 {source="Orphanet:90041", source="Orphanet:90041/e"}
xref: MEDGEN:745735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27174 {source="MONDO:equivalentTo", source="DOID:2838"}
xref: Orphanet:90041 {source="MONDO:equivalentTo"}
xref: SCTID:191371001 {source="DOID:2838"}
xref: SCTID:36874002 {source="MONDO:equivalentTo", source="DOID:2838"}
xref: UMLS:C2242785 {source="MONDO:equivalentTo", source="MEDGEN:745735", source="MONDO:MEDGEN"}
is_a: MONDO:0016541 {source="MONDO:Redundant", source="Orphanet:90041"} ! acquired secondary polycythemia
is_a: MONDO:0020115 {source="NCIT:C27174", source="Orphanet:90041/inferred"} ! secondary polycythemia

[Term]
id: MONDO:0019539
name: obsolete retinopathy of prematurity
is_obsolete: true
replaced_by: MONDO:0006952

[Term]
id: MONDO:0019540
name: diffuse alveolar hemorrhage
subset: gard_rare {source="GARD:19110", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:90060"}
subset: ordo_disorder {source="Orphanet:90060"}
subset: orphanet_rare {source="Orphanet:90060"}
subset: rare
synonym: "diffuse alveolar haemorrhage (disease)" EXACT OMO:0003005 []
synonym: "diffuse alveolar hemorrhage" EXACT [MONDO:ambiguous]
synonym: "diffuse alveolar hemorrhage (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19110 {source="MONDO:GARD"}
xref: HP:0025420 {source="MONDO:otherHierarchy"}
xref: ICD10CM:J98.4 {source="Orphanet:90060/ntbt", source="Orphanet:90060"}
xref: MEDGEN:1381751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90060 {source="MONDO:equivalentTo"}
xref: UMLS:C4476767 {source="MEDGEN:1381751", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:90060"} ! respiratory system disorder
property_value: IAO:0000589 "diffuse alveolar hemorrhage (disease)" xsd:string

[Term]
id: MONDO:0019541
name: obsolete non-infectious posterior uveitis
subset: ordo_group_of_disorders {source="Orphanet:90061"}
subset: otar {source="MONDO:OTAR"}
synonym: "non-infectious choroiditis" EXACT [Orphanet:90061]
xref: GARD:19111 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H30.0 {source="Orphanet:90061", source="Orphanet:90061/ntbt"}
xref: ICD10CM:H30.1 {source="Orphanet:90061", source="Orphanet:90061/ntbt"}
xref: icd11.foundation:2140734738 {source="Orphanet:90061", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:90061 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019542
name: acute liver failure
def: "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections." [NCIT:C84396]
subset: gard_rare {source="GARD:19112", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:90062"}
subset: ordo_disorder {source="Orphanet:90062"}
subset: orphanet_rare {source="Orphanet:90062"}
subset: rare
synonym: "acute hepatic failure" EXACT [Orphanet:90062]
synonym: "fulminant hepatic failure" EXACT [Orphanet:90062]
xref: GARD:19112 {source="MONDO:GARD"}
xref: ICD10CM:K72.0 {source="Orphanet:90062", source="Orphanet:90062/ntbt"}
xref: MedDRA:10000804 {source="Orphanet:90062", source="Orphanet:90062/e"}
xref: MEDGEN:58125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017114 {source="Orphanet:90062", source="MONDO:equivalentTo", source="Orphanet:90062/e"}
xref: NCIT:C84396 {source="MONDO:equivalentTo"}
xref: Orphanet:90062 {source="MONDO:equivalentTo"}
xref: SCTID:197270009 {source="MONDO:equivalentTo"}
xref: UMLS:C0162557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:58125"}
is_a: MONDO:0100192 {source="https://github.com/monarch-initiative/mondo/pull/1871"} ! liver failure
intersection_of: MONDO:0100192 ! liver failure
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019543
name: acquired aneurysmal subarachnoid hemorrhage
def: "Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures." [Orphanet:90065]
subset: gard_rare {source="GARD:19114", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:90065"}
subset: ordo_disorder {source="Orphanet:90065"}
subset: orphanet_rare {source="Orphanet:90065"}
subset: rare
xref: GARD:19114 {source="MONDO:GARD"}
xref: ICD10CM:I60.9 {source="Orphanet:90065/ntbt", source="Orphanet:90065"}
xref: icd11.foundation:958976948 {source="Orphanet:90065", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:572642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90065 {source="MONDO:equivalentTo"}
xref: UMLS:C0338572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:572642"}
is_a: MONDO:0005099 {source="https://orcid.org/0000-0001-5208-3432"} ! subarachnoid hemorrhage
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019110"} ! rare
relationship: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0019544
name: cocaine intoxication
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90068"}
subset: orphanet_rare {source="Orphanet:90068"}
subset: rare
xref: ICD10CM:T40.5 {source="Orphanet:90068", source="Orphanet:90068/e"}
xref: icd11.foundation:1965837313 {source="MONDO:equivalentTo", source="Orphanet:90068"}
xref: ICD9:292.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:90068 {source="MONDO:equivalentTo"}
xref: SCTID:27956007 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MONDO:Entailed", source="Orphanet:90068"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:27958 ! cocaine
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0019545
name: systemic monochloroacetate poisoning
def: "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours." [Orphanet:90069]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90069"}
subset: orphanet_rare {source="Orphanet:90069"}
subset: rare
xref: ICD10CM:T60.3 {source="Orphanet:90069", source="Orphanet:90069/ntbt"}
xref: Orphanet:90069 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:90069"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:27869 ! chloroacetic acid
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare

[Term]
id: MONDO:0019546
name: obsolete other acquired skin disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:90077"}
xref: GARD:19119 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:90077 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019547
name: Wells syndrome
def: "Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia." [Orphanet:901]
subset: gard_rare {source="GARD:329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1124"}
subset: ordo_disorder {source="Orphanet:901"}
subset: orphanet_rare {source="Orphanet:901"}
subset: rare
synonym: "bullous cellulitis with eosinophilia" RELATED [GARD:0000329]
synonym: "eosinophilic cellulitis" EXACT [Orphanet:901]
synonym: "Familial Eosinophilic Cellulitis" EXACT [NORD:1124]
synonym: "Wells' syndrome" RELATED [GARD:0000329]
xref: GARD:329 {source="MONDO:GARD"}
xref: ICD10CM:L98.3 {source="Orphanet:901", source="Orphanet:901/e"}
xref: icd11.foundation:1860796142 {source="MONDO:equivalentTo", source="Orphanet:901", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:682.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536693 {source="MONDO:equivalentTo", source="Orphanet:901", source="Orphanet:901/e"}
xref: NORD:1124 {source="MONDO:NORD"}
xref: Orphanet:901 {source="MONDO:equivalentTo"}
xref: SCTID:238931006 {source="MONDO:equivalentTo"}
xref: UMLS:C0343101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91008"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/329/wells-syndrome" xsd:anyURI {source="GARD:0000329"}

[Term]
id: MONDO:0019548
name: autosomal dominant intermediate Charcot-Marie-Tooth disease
def: "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." [MONDO:patterns/autosomal_dominant]
subset: disease_grouping
subset: gard_rare {source="GARD:12436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:90114"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth" RELATED [GARD:0012436]
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease" EXACT []
synonym: "CMTDI" EXACT ABBREVIATION [Orphanet:90114]
synonym: "intermediate Charcot-Marie-Tooth disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:12436 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:90114/inclusion", source="Orphanet:90114", source="Orphanet:90114/ntbt"}
xref: MEDGEN:1826161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90114 {source="MONDO:equivalentTo"}
xref: UMLS:C5680178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826161"}
is_a: MONDO:0018778 {source="MONDO:Redundant", source="Orphanet:90114"} ! intermediate Charcot-Marie-Tooth disease
intersection_of: MONDO:0018778 ! intermediate Charcot-Marie-Tooth disease
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0019549
name: severe early-onset axonal neuropathy due to MFN2 deficiency
def: "A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop." [https://orcid.org/0000-0001-5208-3432, Orphanet:90118]
subset: gard_rare {source="GARD:19123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90118"}
subset: orphanet_rare {source="Orphanet:90118"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AR-CMT2, Ouvrier type" EXACT [Orphanet:90118]
synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT [Orphanet:90118]
synonym: "SEOAN due to MFN2 deficiency" EXACT [Orphanet:90118]
xref: GARD:19123 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:90118/attributed", source="Orphanet:90118/ntbt", source="Orphanet:90118"}
xref: MEDGEN:1641956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90118 {source="MONDO:equivalentTo"}
xref: SCTID:766977007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707897 {source="MEDGEN:1641956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary motor and sensory neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019550
name: hereditary motor and sensory neuropathy with acrodystrophy
def: "A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999." [https://orcid.org/0000-0001-5208-3432, Orphanet:90119]
subset: gard_rare {source="GARD:19124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90119"}
subset: orphanet_rare {source="Orphanet:90119"}
subset: rare
synonym: "AR-CMT2 with acrodystrophy" EXACT [Orphanet:90119]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy" EXACT [Orphanet:90119]
synonym: "autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy" EXACT [Orphanet:90119]
synonym: "HMSN with acrodystrophy" EXACT [Orphanet:90119]
xref: GARD:19124 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:90119/attributed", source="Orphanet:90119/ntbt", source="Orphanet:90119"}
xref: MEDGEN:1669448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90119 {source="MONDO:equivalentTo"}
xref: UMLS:C4749729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1669448"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary motor and sensory neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019551
name: hereditary motor and sensory neuropathy type 6
subset: gard_rare {source="GARD:16787", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90120"}
subset: orphanet_rare {source="Orphanet:90120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease type 6" EXACT [MONDO:0000856, Orphanet:90120]
synonym: "CMT6" EXACT ABBREVIATION [Orphanet:90120]
synonym: "hereditary motor and sensory neuropathy type 6" EXACT [DOID:0080068]
synonym: "peripheral neuropathy and optic atrophy" EXACT [Orphanet:90120]
xref: DOID:0080068 {source="MONDO:equivalentTo"}
xref: GARD:16787 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:90120/attributed", source="Orphanet:90120/ntbt", source="Orphanet:90120"}
xref: MEDGEN:140747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90120 {source="MONDO:equivalentTo"}
xref: UMLS:C0393807 {source="MEDGEN:140747", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary motor and sensory neuropathy
relationship: excluded_subClassOf MONDO:0015360 {source="Orphanet:90120", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal dominant hereditary axonal motor and sensory neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019552
name: centrifugal lipodystrophy
def: "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving." [Orphanet:90156]
subset: gard_rare {source="GARD:19125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90156"}
subset: orphanet_rare {source="Orphanet:90156"}
subset: rare
synonym: "lipodystrophia centrifugalis abdominalis infantilis" EXACT [Orphanet:90156]
xref: GARD:19125 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:90156", source="Orphanet:90156/ntbt"}
xref: MEDGEN:590539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90156 {source="MONDO:equivalentTo"}
xref: UMLS:C0406605 {source="MEDGEN:590539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019194 {source="Orphanet:90156"} ! localized lipodystrophy

[Term]
id: MONDO:0019553
name: drug-induced localized lipodystrophy
def: "Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present." [Orphanet:90157]
subset: gard_rare {source="GARD:19126", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90157"}
subset: orphanet_rare {source="Orphanet:90157"}
subset: rare
synonym: "lipoatrophy caused by injected drug" EXACT [Orphanet:90157]
xref: GARD:19126 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:90157", source="Orphanet:90157/ntbt"}
xref: MEDGEN:698295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90157 {source="MONDO:equivalentTo"}
xref: SCTID:403661001 {source="MONDO:equivalentTo"}
xref: UMLS:C1274983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:698295"}
is_a: MONDO:0019194 {source="MONDO:Redundant", source="Orphanet:90157"} ! localized lipodystrophy
intersection_of: MONDO:0019194 ! localized lipodystrophy
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0019554
name: idiopathic localized lipodystrophy
def: "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc)." [Orphanet:90158]
subset: gard_rare {source="GARD:19127", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90158"}
subset: orphanet_rare {source="Orphanet:90158"}
subset: rare
xref: GARD:19127 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:90158", source="Orphanet:90158/ntbt"}
xref: MEDGEN:633314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90158 {source="MONDO:equivalentTo"}
xref: UMLS:C0473566 {source="MEDGEN:633314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019194 {source="Orphanet:90158"} ! localized lipodystrophy
intersection_of: MONDO:0019194 ! localized lipodystrophy
intersection_of: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0019555
name: panniculitis and localized lipodystrophy
subset: gard_rare {source="GARD:19128", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90159"}
subset: orphanet_rare {source="Orphanet:90159"}
subset: rare
synonym: "panniculitis-induced localised lipodystrophy" RELATED OMO:0003005 []
synonym: "panniculitis-induced localized lipodystrophy" RELATED [Orphanet:90159]
xref: GARD:19128 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:90159/ntbt", source="Orphanet:90159"}
xref: MEDGEN:1678538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90159 {source="MONDO:equivalentTo"}
xref: UMLS:C5190785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678538"}
is_a: MONDO:0019194 {source="MONDO:Redundant", source="Orphanet:90159"} ! localized lipodystrophy
intersection_of: MONDO:0006591 ! panniculitis
intersection_of: MONDO:0019194 ! localized lipodystrophy

[Term]
id: MONDO:0019556
name: pressure-induced localized lipoatrophy
def: "Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present." [Orphanet:90160]
subset: gard_rare {source="GARD:19129", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90160"}
subset: orphanet_rare {source="Orphanet:90160"}
subset: rare
synonym: "lipoatrophia semicircularis" EXACT [Orphanet:90160]
synonym: "semicircular lipoatrophy" EXACT [Orphanet:90160]
xref: GARD:19129 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:90160", source="Orphanet:90160/ntbt"}
xref: MEDGEN:687584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90160 {source="MONDO:equivalentTo"}
xref: SCTID:238898001 {source="MONDO:equivalentTo"}
xref: UMLS:C1260961 {source="MEDGEN:687584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019194 {source="Orphanet:90160"} ! localized lipodystrophy

[Term]
id: MONDO:0019557
name: chilblain lupus
def: "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." [Orphanet:90280]
comment: Editor note: ORDO classifies as genetic and has a separate subclass for familiar form
subset: gard_rare {source="GARD:19130", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90280"}
subset: orphanet_rare {source="Orphanet:90280"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHLE" EXACT ABBREVIATION [PMID:11176709]
synonym: "Hutchinson lupus" EXACT [PMID:11176709]
xref: DOID:0060386 {source="MONDO:equivalentTo"}
xref: GARD:19130 {source="MONDO:GARD"}
xref: ICD10CM:L93.2 {source="Orphanet:90280/attributed", source="Orphanet:90280/ntbt", source="Orphanet:90280"}
xref: MedDRA:10025141 {source="Orphanet:90280/e", source="Orphanet:90280"}
xref: MEDGEN:1632142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535924 {source="DOID:0060386", source="Orphanet:90280/e", source="Orphanet:90280"}
xref: Orphanet:90280 {source="DOID:0060386", source="MONDO:equivalentTo"}
xref: SCTID:11361009 {source="DOID:0060386"}
xref: SCTID:238928005 {source="DOID:0060386"}
xref: SCTID:72470008 {source="DOID:0060386"}
xref: UMLS:C4551515 {source="MEDGEN:1632142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015574 {source="Orphanet:90280"} ! chronic cutaneous lupus erythematosus
is_a: MONDO:0019293 {source="Orphanet:90280"} ! skin vascular disease
relationship: excluded_subClassOf MONDO:0015948 {source="Orphanet:90280", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic skin vascular disorder

[Term]
id: MONDO:0019558
name: discoid lupus erythematosus
def: "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." [NCIT:C26820]
subset: gard_rare {source="GARD:19131", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90281"}
subset: orphanet_rare {source="Orphanet:90281"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DLE" EXACT ABBREVIATION [NCIT:C26820]
xref: GARD:19131 {source="MONDO:GARD"}
xref: ICD10CM:L93.0 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"}
xref: icd11.foundation:2144907708 {source="Orphanet:90281", source="MONDO:equivalentTo"}
xref: MedDRA:10013072 {source="Orphanet:90281", source="Orphanet:90281/e"}
xref: MEDGEN:1811126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008179 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"}
xref: NCIT:C26820 {source="MONDO:equivalentTo"}
xref: Orphanet:90281 {source="MONDO:equivalentTo"}
xref: SCTID:200938002 {source="MONDO:equivalentTo"}
xref: UMLS:C5574816 {source="MEDGEN:1811126", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005282 {source="MESH:D008179", source="MONDO:Redundant", source="NCIT:C26820"} ! cutaneous lupus erythematosus
is_a: MONDO:0015574 {source="Orphanet:90281"} ! chronic cutaneous lupus erythematosus

[Term]
id: MONDO:0019559
name: hypertrophic or verrucous lupus erythematosus
subset: gard_rare {source="GARD:19132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90282"}
subset: orphanet_rare {source="Orphanet:90282"}
subset: rare
xref: GARD:19132 {source="MONDO:GARD"}
xref: ICD10CM:L93.2 {source="Orphanet:90282", source="Orphanet:90282/ntbt"}
xref: MEDGEN:698156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90282 {source="MONDO:equivalentTo"}
xref: UMLS:C1274838 {source="MEDGEN:698156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015574 {source="Orphanet:90282"} ! chronic cutaneous lupus erythematosus

[Term]
id: MONDO:0019560
name: lupus erythematosus tumidus
def: "Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy." [https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus]
subset: gard_rare {source="GARD:13003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90283"}
subset: orphanet_rare {source="Orphanet:90283"}
subset: rare
synonym: "intermittent cutaneous lupus" EXACT [Orphanet:90283]
synonym: "let" EXACT [NCIT:C117112]
synonym: "tumid lupus erythematosus" RELATED [GARD:0013003]
xref: GARD:13003 {source="MONDO:GARD"}
xref: ICD10CM:L93.2 {source="Orphanet:90283/ntbt", source="Orphanet:90283"}
xref: MEDGEN:590566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117112 {source="MONDO:equivalentTo"}
xref: Orphanet:90283 {source="MONDO:equivalentTo"}
xref: SCTID:200941006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590566"}
is_a: MONDO:0005282 {source="MONDO:Redundant", source="NCIT:C117112"} ! cutaneous lupus erythematosus
is_a: MONDO:0015574 {source="Orphanet:90283"} ! chronic cutaneous lupus erythematosus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus" xsd:anyURI {source="GARD:0013003"}

[Term]
id: MONDO:0019561
name: lupus erythematosus panniculitis
def: "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." [MESH:D015435]
subset: gard_rare {source="GARD:19133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90285"}
subset: orphanet_rare {source="Orphanet:90285"}
subset: rare
synonym: "lupus erythematosus profundus" EXACT [Orphanet:90285]
synonym: "lupus panniculitis" EXACT [NCIT:C82884]
synonym: "lupus profundus" EXACT [NCIT:C82884]
xref: GARD:19133 {source="MONDO:GARD"}
xref: ICD10CM:L93.2 {source="Orphanet:90285/ntbt", source="Orphanet:90285"}
xref: MEDGEN:14589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015435 {source="Orphanet:90285", source="MONDO:equivalentTo", source="Orphanet:90285/e"}
xref: NCIT:C82884 {source="MONDO:equivalentTo"}
xref: Orphanet:90285 {source="MONDO:equivalentTo"}
xref: SCTID:15084002 {source="MONDO:equivalentTo"}
xref: UMLS:C0030327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14589"}
is_a: MONDO:0006591 {source="MESH:D015435"} ! panniculitis
is_a: MONDO:0015574 {source="Orphanet:90285"} ! chronic cutaneous lupus erythematosus

[Term]
id: MONDO:0019562
name: localized scleroderma
def: "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips." [Orphanet:90289]
subset: gard_rare {source="GARD:7058", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:90289"}
subset: orphanet_rare {source="Orphanet:90289"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "circumscribed scleroderma" EXACT [DOID:8472, ICD9CM:701.0]
synonym: "localised fibrosing scleroderma" EXACT OMO:0003005 []
synonym: "localised morphea" EXACT OMO:0003005 []
synonym: "localised morphoea" EXACT OMO:0003005 []
synonym: "localised scleroderma (disorder) [ambiguous]" EXACT OMO:0003005 []
synonym: "localized fibrosing scleroderma" EXACT [Orphanet:90289]
synonym: "localized morphea" EXACT [DOID:8472]
synonym: "localized morphoea" EXACT [DOID:8472]
synonym: "localized scleroderma" EXACT [MONDO:0004581]
synonym: "localized scleroderma (disorder) [ambiguous]" EXACT [DOID:8472]
synonym: "morphea" EXACT [DOID:8472]
synonym: "Scleroderma, circumscribed or localised" EXACT OMO:0003005 []
synonym: "Scleroderma, circumscribed or localized" EXACT [DOID:8472]
synonym: "Scleroderma, localised" RELATED OMO:0003005 []
synonym: "Scleroderma, localized" RELATED [GARD:0007058]
xref: DOID:8472 {source="MONDO:equivalentTo"}
xref: EFO:1001361 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7058 {source="MONDO:GARD"}
xref: ICD10CM:L94.0 {source="Orphanet:90289", source="DOID:8472", source="Orphanet:90289/e"}
xref: icd11.foundation:1430740369 {source="MONDO:equivalentTo", source="Orphanet:90289", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:701.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8472"}
xref: MedDRA:10039712 {source="Orphanet:90289", source="Orphanet:90289/e"}
xref: MEDGEN:48586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012594 {source="MONDO:equivalentTo", source="Orphanet:90289", source="DOID:8472", source="Orphanet:90289/e"}
xref: NCIT:C72069 {source="MONDO:equivalentTo", source="DOID:8472"}
xref: Orphanet:90289 {source="MONDO:equivalentTo"}
xref: SCTID:201046006 {source="DOID:8472"}
xref: SCTID:201047002 {source="DOID:8472"}
xref: SCTID:201048007 {source="MONDO:equivalentTo", source="DOID:8472"}
xref: SCTID:201052007 {source="DOID:8472"}
xref: SCTID:90424004 {source="DOID:8472"}
xref: UMLS:C0036420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48586"}
is_a: MONDO:0019340 {source="DOID:8472", source="NCIT:C72069", source="Orphanet:90289"} ! scleroderma

[Term]
id: MONDO:0019563
name: CREST syndrome
def: "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia." [Orphanet:90290]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia" RELATED [GARD:0012430]
synonym: "calcinosis Raynaud phenomenon sclerodactyly telangiectasia" RELATED [MESH:D017675]
synonym: "calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome" RELATED [MESH:D017675]
synonym: "calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome" EXACT [Orphanet:90290]
synonym: "calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia" RELATED [MESH:D017675]
synonym: "CRST syndrome" NARROW [MESH:D017675]
synonym: "CRST syndromes" NARROW [MESH:D017675]
synonym: "lcSSc" BROAD [NCIT:C70646]
synonym: "limited cutaneous Systemic Scleroderma" EXACT [NCIT:C70646]
synonym: "limited cutaneous Systemic sclerosis" EXACT [NCIT:C70646]
synonym: "phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud" RELATED [MESH:D017675]
synonym: "syndrome, CREST" RELATED [MESH:D017675]
xref: DOID:0060218 {source="MONDO:equivalentTo"}
xref: ICD10CM:M34.1 {source="Orphanet:90290/e", source="DOID:0060218", source="Orphanet:90290"}
xref: MedDRA:10011380 {source="Orphanet:90290/e", source="Orphanet:90290"}
xref: MEDGEN:60083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017675 {source="Orphanet:90290/e", source="MONDO:equivalentTo", source="DOID:0060218", source="Orphanet:90290"}
xref: NANDO:1201011 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C70646 {source="MONDO:equivalentTo", source="DOID:0060218"}
xref: Orphanet:90290 {source="MONDO:equivalentObsolete"}
xref: SCTID:156453002 {source="DOID:0060218"}
xref: SCTID:201442004 {source="DOID:0060218"}
xref: SCTID:31848007 {source="MONDO:equivalentTo", source="DOID:0060218"}
xref: SCTID:62382002 {source="DOID:0060218"}
xref: UMLS:C0206138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60083"}
is_a: MONDO:0002254 {source="DOID:0060218", source="NCIT:C70646"} ! syndromic disease
is_a: MONDO:0005100 {source="MESH:D017675/inferred", source="Orphanet:90290"} ! systemic sclerosis
is_a: MONDO:0016358 {source="MESH:D017675"} ! limited cutaneous systemic sclerosis

[Term]
id: MONDO:0019564
name: obsolete systemic sclerosis
is_obsolete: true
replaced_by: MONDO:0005100

[Term]
id: MONDO:0019565
name: hereditary von Willebrand disease
def: "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)." [Orphanet:903]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7867", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:903"}
subset: orphanet_rare {source="Orphanet:903"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital von willebrand disease" RELATED []
synonym: "congenital von willebrand's disease" EXACT []
synonym: "hereditary von Willebrand disease" EXACT CLINGEN_LABEL []
synonym: "hereditary von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/hereditary]
synonym: "vascular haemophilia" BROAD OMO:0003005 []
synonym: "vascular hemophilia" BROAD [DOID:12531]
synonym: "vascular pseudohemophilia" EXACT [DOID:12531]
synonym: "von Willebrand disease" BROAD [DOID:12531, Orphanet:903]
synonym: "von Willebrand disorder" BROAD [DOID:12531]
synonym: "von Willebrand's disease" RELATED [DOID:12531]
synonym: "von Willebrand's-Jurgens' disease" BROAD [DOID:12531]
synonym: "von Willebrand-Jrgens disease" EXACT [DOID:12531]
synonym: "von Willebrand-Jurgens disease" BROAD [DOID:12531]
xref: DOID:12531 {source="MONDO:equivalentTo"}
xref: GARD:7867 {source="MONDO:GARD"}
xref: ICD10CM:D68.0 {source="Orphanet:903/specific", source="Orphanet:903", source="DOID:12531", source="Orphanet:903/e"}
xref: ICD10CM:D69.8 {source="DOID:12531"}
xref: icd11.foundation:2112021600 {source="MONDO:equivalentTo", source="Orphanet:903", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:286.4 {source="DOID:12531"}
xref: MedDRA:10047715 {source="Orphanet:903", source="Orphanet:903/e"}
xref: MEDGEN:1814986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531844 {source="MONDO:equivalentTo"}
xref: MESH:D014842 {source="Orphanet:903", source="DOID:12531", source="Orphanet:903/e"}
xref: NCIT:C68677 {source="DOID:12531"}
xref: Orphanet:903 {source="MONDO:equivalentTo"}
xref: SCTID:11093006 {source="DOID:12531"}
xref: SCTID:128105004 {source="DOID:12531"}
xref: SCTID:154819009 {source="DOID:12531"}
xref: SCTID:234446004 {source="MONDO:equivalentTo"}
xref: UMLS:C5703318 {source="MONDO:equivalentTo", source="MEDGEN:1814986", source="MONDO:MEDGEN"}
is_a: MONDO:0001531 {source="DOID:12531/inferred", source="MESH:C531844/inferred", source="NCIT:C68677"} ! blood coagulation disease
is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease
is_a: MONDO:0002243 ! hemorrhagic disease
is_a: MONDO:0003847 {source="MESH:C531844/inferred", source="MONDO:Redundant", source="Orphanet:903/inferred"} ! hereditary disease
is_a: MONDO:0024574 {source="MESH:C531844", source="MONDO:Redundant"} ! von Willebrand disease (hereditary or acquired)
intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired)
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0019566
name: obsolete Klippel-Trenaunay syndrome
is_obsolete: true
replaced_by: MONDO:0007864

[Term]
id: MONDO:0019567
name: Ehlers-Danlos syndrome, classic type, 1
def: "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:90309"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS I" EXACT [Orphanet:90309]
synonym: "EDSCL1" EXACT ABBREVIATION [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, classic type, 1" EXACT CLINGEN_LABEL [OMIM:130000]
synonym: "Ehlers-Danlos syndrome, type 1" EXACT [DOID:14720]
synonym: "Ehlers-Danlos syndrome, type I" EXACT [NCIT:C125696]
synonym: "type I Ehlers-Danlos syndrome" EXACT [DOID:14720]
xref: DOID:14720 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q79.6 {source="Orphanet:90309", source="Orphanet:90309/attributed", source="Orphanet:90309/ntbt"}
xref: MEDGEN:78660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536194 {source="Orphanet:90309", source="MONDO:equivalentTo", source="Orphanet:90309/e", source="DOID:14720"}
xref: NCIT:C125696 {source="MONDO:equivalentTo"}
xref: OMIM:130000 {source="MONDO:equivalentTo", source="OMIM:130000"}
xref: Orphanet:90309 {source="MONDO:equivalentObsolete"}
xref: SCTID:83470009 {source="MONDO:equivalentTo", source="DOID:14720"}
xref: UMLS:C0268335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78660"}
is_a: MONDO:0007522 {source="Orphanet:90309"} ! Ehlers-Danlos syndrome, classic type
is_a: MONDO:0020066 {source="DOID:14720", source="MESH:C536194", source="MONDO:0019567/inferred", source="MONDO:Redundant", source="NCIT:C125696", source="Orphanet:90309/inferred"} ! Ehlers-Danlos syndrome
intersection_of: MONDO:0020066 ! Ehlers-Danlos syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2209 ! COL5A1
relationship: has_characteristic HP:0000006 {source="Orphanet:90309"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0019568
name: Ehlers-Danlos syndrome, classic type, 2
def: "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:90318"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS II" EXACT [Orphanet:90318]
synonym: "EDS II, formerly" RELATED [OMIM:130010]
synonym: "EDSCL2" EXACT ABBREVIATION [OMIM:130010]
synonym: "Ehlers Danlos syndrome, mild Classic type" RELATED [OMIM:130010]
synonym: "Ehlers Danlos syndrome, mild Classic type, formerly" RELATED [OMIM:130010]
synonym: "Ehlers Danlos syndrome, mitis type" RELATED [OMIM:130010]
synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130010]
synonym: "Ehlers-Danlos syndrome, classic type, 2" EXACT CLINGEN_LABEL [OMIM:130010]
synonym: "Ehlers-Danlos syndrome, type Ii" RELATED [OMIM:130010]
synonym: "Ehlers-Danlos syndrome, type Ii, formerly" RELATED [OMIM:130010]
xref: DOID:0080726 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q79.6 {source="Orphanet:90318/attributed", source="Orphanet:90318/ntbt", source="Orphanet:90318"}
xref: MEDGEN:120628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536195 {source="Orphanet:90318/e", source="MONDO:equivalentTo", source="Orphanet:90318"}
xref: NCIT:C125697 {source="MONDO:equivalentTo"}
xref: OMIM:130010 {source="MONDO:equivalentTo"}
xref: Orphanet:90318 {source="MONDO:equivalentObsolete", source="OMIM:130010"}
xref: UMLS:C0268336 {source="MEDGEN:120628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007522 {source="Orphanet:90318"} ! Ehlers-Danlos syndrome, classic type
is_a: MONDO:0020066 {source="MESH:C536195", source="MONDO:0019568/inferred", source="MONDO:Redundant", source="NCIT:C125697", source="OMIM:130010", source="Orphanet:90318/inferred"} ! Ehlers-Danlos syndrome
intersection_of: MONDO:0020066 ! Ehlers-Danlos syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2210 ! COL5A2
relationship: has_characteristic HP:0000006 {source="Orphanet:90318"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0019569
name: Cockayne syndrome type 1
def: "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." [NCIT:C135725]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:1415", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90321"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cockayne syndrome A" EXACT [MONDO:0008997, MONDO:Lexical, OMIM:216400]
synonym: "Cockayne syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern]
synonym: "Cockayne syndrome classic form" RELATED [GARD:0001415]
synonym: "Cockayne syndrome classical" RELATED [GARD:0001415]
synonym: "Cockayne syndrome type 1" EXACT CLINGEN_LABEL []
synonym: "Cockayne syndrome type A" RELATED [GARD:0001415]
synonym: "Cockayne syndrome type a" EXACT [MONDORULE:1, OMIM:216400]
synonym: "Cockayne syndrome type I" EXACT [GARD:0001415, Orphanet:90321]
synonym: "Cockayne syndrome, type A" EXACT [OMIM:216400, OMIM:genemap2]
synonym: "CSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216400]
synonym: "ERCC8 Cockayne syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080907 {source="MONDO:equivalentTo"}
xref: GARD:1415 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:90321", source="Orphanet:90321/attributed", source="Orphanet:90321/ntbt"}
xref: MEDGEN:155488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C135725 {source="MONDO:equivalentTo"}
xref: OMIM:216400 {source="MONDO:equivalentTo", source="Orphanet:90321", source="GARD:0001415", source="Orphanet:90321/btnt"}
xref: Orphanet:191 {source="OMIM:216400"}
xref: Orphanet:90321 {source="OMIM:216400", source="MONDO:equivalentTo", source="GARD:0001415"}
xref: Orphanet:90322 {source="OMIM:216400", source="MONDO:directSiblingOf"}
xref: Orphanet:90324 {source="OMIM:216400", source="MONDO:directSiblingOf"}
xref: UMLS:C0751039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155488"}
is_a: MONDO:0016006 {source="MONDO:Redundant", source="NCIT:C135725", source="Orphanet:191/btnt", source="Orphanet:90321"} ! Cockayne syndrome
intersection_of: MONDO:0016006 ! Cockayne syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 ! ERCC8
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:216400"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 {source="MONDO:mim2gene_medgen"} ! ERCC8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i" xsd:anyURI {source="GARD:0001415"}

[Term]
id: MONDO:0019570
name: Cockayne syndrome type 2
def: "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." [NCIT:C135726]
subset: gard_rare {source="GARD:1420", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90322"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cockayne syndrome B" EXACT [MONDO:0007582, MONDO:Lexical, OMIM:133540]
synonym: "Cockayne syndrome type 2" EXACT [GARD:0001420]
synonym: "Cockayne syndrome type B" EXACT [MONDORULE:1, OMIM:133540]
synonym: "Cockayne syndrome type II" EXACT [Orphanet:90322]
synonym: "Cockayne syndrome, type B" EXACT [OMIM:133540, OMIM:genemap2]
synonym: "CSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133540]
xref: DOID:0080908 {source="MONDO:equivalentTo"}
xref: GARD:1420 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:90322", source="Orphanet:90322/attributed", source="Orphanet:90322/ntbt"}
xref: MEDGEN:155487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C135726 {source="MONDO:equivalentTo"}
xref: OMIM:133540 {source="MONDO:equivalentTo", source="Orphanet:90322", source="Orphanet:90322/btnt"}
xref: Orphanet:191 {source="OMIM:133540"}
xref: Orphanet:90321 {source="OMIM:133540", source="MONDO:directSiblingOf"}
xref: Orphanet:90322 {source="MONDO:equivalentTo", source="OMIM:133540"}
xref: Orphanet:90324 {source="OMIM:133540", source="MONDO:directSiblingOf"}
xref: UMLS:C0751038 {source="MEDGEN:155487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016006 {source="NCIT:C135726", source="Orphanet:191/btnt", source="Orphanet:90322"} ! Cockayne syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:133540", source="Orphanet:90322"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0019571
name: autosomal dominant cutis laxa
def: "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." [Orphanet:90348]
subset: gard_rare {source="GARD:1639", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90348"}
subset: orphanet_rare {source="Orphanet:90348"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADCL" EXACT ABBREVIATION [DOID:0070142, Orphanet:90348]
synonym: "cutis laxa, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: DOID:0070142 {source="MONDO:equivalentTo"}
xref: GARD:1639 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="DOID:0070142", source="Orphanet:90348/attributed", source="Orphanet:90348/ntbt", source="Orphanet:90348"}
xref: MEDGEN:120630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562627 {source="MONDO:equivalentTo"}
xref: Orphanet:90348 {source="DOID:0070142", source="MONDO:equivalentTo"}
xref: SCTID:111388003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120630"}
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0100237 {source="DOID:0070142", source="MESH:C562627", source="MONDO:Redundant", source="Orphanet:90348"} ! inherited cutis laxa
intersection_of: MONDO:0100237 ! inherited cutis laxa
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="Orphanet:90348"} ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant" xsd:anyURI {source="GARD:0001639"}

[Term]
id: MONDO:0019572
name: autosomal recessive cutis laxa type 1
def: "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)." [Orphanet:90349]
subset: gard_rare {source="GARD:8480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90349"}
subset: orphanet_rare {source="Orphanet:90349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCL1" EXACT ABBREVIATION [Orphanet:90349]
synonym: "autosomal recessive cutis laxa type 1" EXACT [DOID:0070144]
synonym: "autosomal recessive cutis laxa type I" RELATED [DOID:0070144]
synonym: "autosomal recessive cutis laxa with severe systemic involvement" EXACT [Orphanet:90349]
synonym: "autosomal recessive cutis laxa, pulmonary emphysema type" EXACT [Orphanet:90349]
synonym: "cutis laxa, autosomal recessive type 1" RELATED [GARD:0008480]
synonym: "cutis laxa, type 1" RELATED [GARD:0008480]
xref: DOID:0070144 {source="MONDO:equivalentTo"}
xref: GARD:8480 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:90349/attributed", source="Orphanet:90349/ntbt", source="Orphanet:90349"}
xref: MESH:C536225 {source="MONDO:equivalentTo"}
xref: Orphanet:90349 {source="MONDO:equivalentTo"}
xref: Orphanet:90439 {source="DOID:0070144", source="MONDO:typo"}
xref: PMID:19401719 {source="DOID:0070144"}
xref: SCTID:254222002 {source="DOID:0070144", source="MONDO:equivalentTo"}
is_a: MONDO:0100237 {source="DOID:0070144", source="Orphanet:90349"} ! inherited cutis laxa
relationship: excluded_subClassOf MONDO:0005385 {source="Orphanet:90349", source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016517"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5663" xsd:anyURI

[Term]
id: MONDO:0019573
name: autosomal recessive cutis laxa type 2
def: "A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." [https://orcid.org/0000-0001-5208-3432, Orphanet:90350]
subset: disease_grouping
subset: gard_rare {source="GARD:19134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:90350"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ARCL2" EXACT ABBREVIATION [Orphanet:90350]
synonym: "cutis laxa with joint laxity and developmental delay" EXACT [Orphanet:90350]
xref: GARD:19134 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:90350", source="Orphanet:90350/attributed", source="Orphanet:90350/ntbt"}
xref: MEDGEN:609467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90350 {source="MONDO:equivalentTo"}
xref: UMLS:C0432337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609467"}
is_a: MONDO:0017355 {source="Orphanet:90350"} ! inborn disorder of proline metabolism
is_a: MONDO:0018230 {source="Orphanet:90350"} ! skeletal dysplasia
is_a: MONDO:0100237 {source="Orphanet:90350"} ! inherited cutis laxa
relationship: disease_has_feature HP:0004349 {source="Orphanet:90350"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:90350", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0019574
name: secondary intestinal lymphangiectasia
def: "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." [Orphanet:90363]
subset: gard_rare {source="GARD:19135", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90363"}
subset: orphanet_rare {source="Orphanet:90363"}
subset: rare
xref: GARD:19135 {source="MONDO:GARD"}
xref: ICD10CM:I89.0 {source="Orphanet:90363/ntbt", source="Orphanet:90363"}
xref: MEDGEN:908114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90363 {source="MONDO:equivalentTo"}
xref: SCTID:717255008 {source="MONDO:equivalentTo"}
xref: UMLS:C4273969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908114"}
is_a: MONDO:0018178 {source="Orphanet:90363"} ! intestinal lymphangiectasia

[Term]
id: MONDO:0019575
name: hypotrichosis simplex of the scalp
def: "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." [Orphanet:90368]
subset: gard_rare {source="GARD:16789", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90368"}
subset: orphanet_rare {source="Orphanet:90368"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary hypotrichosis simplex of the scalp" EXACT [Orphanet:90368]
xref: GARD:16789 {source="MONDO:GARD"}
xref: ICD10CM:L65.8 {source="Orphanet:90368/attributed", source="Orphanet:90368/ntbt", source="Orphanet:90368"}
xref: Orphanet:90368 {source="MONDO:equivalentTo"}
xref: SCTID:717256009 {source="MONDO:equivalentTo"}
is_a: MONDO:0004907 {source="Orphanet:90368"} ! alopecia

[Term]
id: MONDO:0019576
name: telangiectasia macularis eruptiva perstans
subset: gard_rare {source="GARD:19136", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90389"}
subset: rare
xref: GARD:19136 {source="MONDO:GARD"}
xref: ICD10CM:Q82.2 {source="Orphanet:90389", source="Orphanet:90389/ntbt"}
xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10043192 {source="Orphanet:90389", source="Orphanet:90389/e"}
xref: MEDGEN:78094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90389 {source="MONDO:equivalentTo"}
xref: SCTID:8214000 {source="MONDO:equivalentTo"}
xref: UMLS:C0263402 {source="MEDGEN:78094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019316 {source="Orphanet:90389"} ! maculopapular cutaneous mastocytosis

[Term]
id: MONDO:0019577
name: anonychia-onychodystrophy syndrome
subset: gard_rare {source="GARD:710", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90390"}
subset: rare
xref: GARD:710 {source="MONDO:GARD"}
xref: ICD10CM:Q84.3 {source="Orphanet:90390/attributed", source="Orphanet:90390/ntbt", source="Orphanet:90390"}
xref: MEDGEN:350767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536378 {source="Orphanet:90390/e", source="MONDO:equivalentTo", source="Orphanet:90390"}
xref: Orphanet:90390 {source="MONDO:equivalentTo"}
xref: UMLS:C1862840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350767"}
is_a: MONDO:0019211 {source="Orphanet:90390"} ! isolated congenital anonychia

[Term]
id: MONDO:0019578
name: nodular lichen myxedematosus
def: "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." [Orphanet:90393]
subset: gard_rare {source="GARD:19137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90393"}
subset: orphanet_rare {source="Orphanet:90393"}
subset: rare
synonym: "atypical tuberous myxedema of Jadassohn-Dosseker" EXACT [Orphanet:90393]
xref: GARD:19137 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:90393/ntbt", source="Orphanet:90393"}
xref: MEDGEN:894327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90393 {source="MONDO:equivalentTo"}
xref: SCTID:717257000 {source="MONDO:equivalentTo"}
xref: UMLS:C4273968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894327"}
is_a: MONDO:0019446 {source="Orphanet:90393", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus

[Term]
id: MONDO:0019579
name: discrete papular lichen myxedematosus
def: "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." [Orphanet:90394]
subset: gard_rare {source="GARD:19138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90394"}
subset: orphanet_rare {source="Orphanet:90394"}
subset: rare
xref: GARD:19138 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:90394", source="Orphanet:90394/ntbt"}
xref: MEDGEN:898313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90394 {source="MONDO:equivalentTo"}
xref: SCTID:717258005 {source="MONDO:equivalentTo"}
xref: UMLS:C4273967 {source="MEDGEN:898313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019446 {source="Orphanet:90394", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus

[Term]
id: MONDO:0019580
name: papular mucinosis of infancy
def: "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." [Orphanet:90395]
subset: gard_rare {source="GARD:19139", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90395"}
subset: orphanet_rare {source="Orphanet:90395"}
subset: rare
synonym: "cutaneous mucinosis of infancy" EXACT [Orphanet:90395]
xref: GARD:19139 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:90395/ntbt", source="Orphanet:90395"}
xref: MEDGEN:909529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90395 {source="MONDO:equivalentTo"}
xref: SCTID:717259002 {source="MONDO:equivalentTo"}
xref: UMLS:C4273966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909529"}
is_a: MONDO:0019446 {source="Orphanet:90395", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus

[Term]
id: MONDO:0019581
name: acral persistent papular mucinosis
def: "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." [Orphanet:90396]
subset: gard_rare {source="GARD:19140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90396"}
subset: orphanet_rare {source="Orphanet:90396"}
subset: rare
xref: GARD:19140 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:90396/ntbt", source="Orphanet:90396"}
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:590586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90396 {source="MONDO:equivalentTo"}
xref: SCTID:238949006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590586"}
is_a: MONDO:0019446 {source="Orphanet:90396", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus

[Term]
id: MONDO:0019582
name: self-healing papular mucinosis
def: "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." [Orphanet:90397]
subset: gard_rare {source="GARD:19141", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90397"}
subset: orphanet_rare {source="Orphanet:90397"}
subset: rare
xref: GARD:19141 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:90397", source="Orphanet:90397/ntbt"}
xref: MEDGEN:590583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90397 {source="MONDO:equivalentTo"}
xref: UMLS:C0406657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590583"}
is_a: MONDO:0019446 {source="Orphanet:90397", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/"} ! localized lichen myxedematosus

[Term]
id: MONDO:0019583
name: localized lichen myxedematosus with mixed features of different subtypes
def: "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM." [Orphanet:90398]
subset: gard_rare {source="GARD:19142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90398"}
subset: rare
xref: GARD:19142 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:90398", source="Orphanet:90398/ntbt"}
xref: MEDGEN:1843441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90398 {source="MONDO:equivalentTo"}
xref: UMLS:C5681465 {source="MEDGEN:1843441", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019447 {source="Orphanet:90398"} ! atypical lichen myxedematosus

[Term]
id: MONDO:0019584
name: localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
def: "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia." [Orphanet:90399]
subset: gard_rare {source="GARD:19143", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90399"}
subset: rare
xref: GARD:19143 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:90399", source="Orphanet:90399/ntbt"}
xref: MEDGEN:1843442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90399 {source="MONDO:equivalentTo"}
xref: UMLS:C5681466 {source="MEDGEN:1843442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019447 {source="Orphanet:90399"} ! atypical lichen myxedematosus

[Term]
id: MONDO:0019585
name: scleromyxedema without monoclonal gammopathy
def: "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." [Orphanet:90400]
subset: gard_rare {source="GARD:19144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90400"}
subset: rare
xref: GARD:19144 {source="MONDO:GARD"}
xref: ICD10CM:L98.5 {source="Orphanet:90400", source="Orphanet:90400/ntbt"}
xref: MEDGEN:1843341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90400 {source="MONDO:equivalentTo"}
xref: UMLS:C5681463 {source="MEDGEN:1843341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019447 {source="Orphanet:90400"} ! atypical lichen myxedematosus

[Term]
id: MONDO:0019586
name: X-linked nonsyndromic hearing loss
def: "X-linked form of nonsyndromic deafness." [MONDO:patterns/x_linked]
comment: ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408
subset: gard_rare {source="GARD:16790", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90625"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nonsyndromic deafness, X-linked" NARROW [MONDO:patterns/x_linked]
synonym: "nonsyndromic genetic deafness, X-linked" NARROW [MONDO:patterns/x_linked]
synonym: "X-linked deafness" NARROW [DOID:0050566]
synonym: "X-linked isolated neurosensory deafness type DFN" NARROW [Orphanet:90625]
synonym: "X-linked isolated neurosensory hearing loss type DFN" EXACT [Orphanet:90625]
synonym: "X-linked isolated sensorineural deafness type DFN" NARROW [Orphanet:90625]
synonym: "X-linked isolated sensorineural hearing loss type DFN" EXACT [Orphanet:90625]
synonym: "X-linked non-syndromic neurosensory deafness type DFN" NARROW [Orphanet:90625]
synonym: "X-linked non-syndromic neurosensory hearing loss type DFN" EXACT [Orphanet:90625]
synonym: "X-linked non-syndromic sensorineural deafness type DFN" NARROW [Orphanet:90625]
synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orphanet:90625]
synonym: "X-linked nonsyndromic deafness" NARROW []
synonym: "X-linked nonsyndromic genetic deafness" NARROW [MONDO:design_pattern]
xref: DOID:0050566 {source="MONDO:equivalentTo"}
xref: GARD:16790 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0050566", source="Orphanet:90625/attributed", source="Orphanet:90625/ntbt", source="Orphanet:90625"}
xref: MEDGEN:1825990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90625 {source="DOID:0050566", source="MONDO:equivalentTo"}
xref: UMLS:C5680192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825990"}
is_a: MONDO:0016297 {source="Orphanet:90625"} ! prelingual non-syndromic genetic hearing loss
is_a: MONDO:0016298 {source="Orphanet:90625"} ! postlingual non-syndromic genetic hearing loss
is_a: MONDO:0020768 {source="https://orcid.org/0000-0002-6601-2165"} ! X-linked deafness
intersection_of: MONDO:0019497 ! nonsyndromic genetic hearing loss
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0019587
name: autosomal dominant nonsyndromic hearing loss
def: "Autosomal dominant form of nonsyndromic deafness." [MONDO:patterns/autosomal_dominant]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:90635"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90635"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant deafness" BROAD [DOID:0050564]
synonym: "autosomal dominant isolated deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss]
synonym: "autosomal dominant isolated neurosensory deafness type DFNA" NARROW [Orphanet:90635]
synonym: "autosomal dominant isolated neurosensory hearing loss type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant isolated sensorineural deafness type DFNA" NARROW [Orphanet:90635]
synonym: "autosomal dominant isolated sensorineural hearing loss type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant non-syndromic neurosensory deafness type DFNA" NARROW [Orphanet:90635]
synonym: "autosomal dominant non-syndromic neurosensory hearing loss type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant non-syndromic sensorineural deafness type DFNA" NARROW [Orphanet:90635]
synonym: "autosomal dominant non-syndromic sensorineural hearing loss type DFNA" EXACT [Orphanet:90635]
synonym: "autosomal dominant nonsyndromic deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, OMIMPS:124900]
synonym: "autosomal dominant nonsyndromic genetic deafness" NARROW [MONDO:design_pattern]
synonym: "autosomal dominant nonsyndromic hearing impairment" EXACT DEPRECATED [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss]
synonym: "autosomal dominant nonsyndromic hearing loss" EXACT CLINGEN_LABEL []
synonym: "autosomal dominant nonsyndromic hearing loss and deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss]
synonym: "deafness, autosomal dominant" NARROW [OMIMPS:124900]
synonym: "nonsyndromic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant]
synonym: "nonsyndromic genetic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant]
xref: DOID:0050564 {source="MONDO:equivalentTo"}
xref: GARD:16791 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0050564", source="Orphanet:90635/attributed", source="Orphanet:90635/ntbt", source="Orphanet:90635"}
xref: MEDGEN:1843285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:124900 {source="DOID:0050564", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="DOID:0050564", source="MONDO:equivalentTo"}
xref: UMLS:C5779548 {source="MEDGEN:1843285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016297 {source="Orphanet:90635"} ! prelingual non-syndromic genetic hearing loss
is_a: MONDO:0016298 {source="Orphanet:90635"} ! postlingual non-syndromic genetic hearing loss
intersection_of: MONDO:0019497 ! nonsyndromic genetic hearing loss
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:124900"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0019588
name: hearing loss, autosomal recessive
def: "Autosomal recessive form of nonsyndromic deafness." [MONDO:patterns/autosomal_recessive]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18117", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:90636"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:90636"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "autosomal recessive isolated neurosensory deafness type DFNB" NARROW [Orphanet:90636]
synonym: "autosomal recessive isolated sensorineural deafness type DFNB" NARROW [Orphanet:90636]
synonym: "autosomal recessive non-syndromic neurosensory deafness type DFNB" NARROW [Orphanet:90636]
synonym: "autosomal recessive non-syndromic sensorineural deafness type DFNB" NARROW [Orphanet:90636]
synonym: "autosomal recessive nonsyndromic deafness" NARROW [OMIM:607197]
synonym: "autosomal recessive nonsyndromic genetic deafness" NARROW [MONDO:design_pattern]
synonym: "deafness, autosomal recessive" NARROW [MONDO:0011791, OMIM:607197, OMIMPS:220290]
synonym: "deafness, neurosensory nonsyndromic recessive, DFN" NARROW [GARD:0001710]
synonym: "hearing loss, autosomal recessive" EXACT CLINGEN_LABEL []
synonym: "nonsyndromic deafness, autosomal recessive" NARROW [MONDO:patterns/autosomal_recessive]
synonym: "nonsyndromic genetic deafness, autosomal recessive" NARROW [MONDO:patterns/autosomal_recessive]
xref: DOID:0050565 {source="MONDO:equivalentTo"}
xref: GARD:18117 {source="MONDO:GARD"}
xref: ICD10CM:H90.3 {source="DOID:0050565", source="Orphanet:90636/attributed", source="Orphanet:90636/ntbt", source="Orphanet:90636"}
xref: MEDGEN:337623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564609 {source="MONDO:equivalentTo"}
xref: OMIM:607197 {source="DOID:0050565", source="MONDO:equivalentTo"}
xref: OMIMPS:220290 {source="DOID:0050565", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="OMIM:607197", source="MONDO:directSiblingOf"}
xref: Orphanet:90636 {source="DOID:0050565", source="MONDO:equivalentTo"}
xref: UMLS:C1846647 {source="MEDGEN:337623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016297 {source="Orphanet:90636"} ! prelingual non-syndromic genetic hearing loss
is_a: MONDO:0016298 {source="Orphanet:90636"} ! postlingual non-syndromic genetic hearing loss
intersection_of: MONDO:0019497 ! nonsyndromic genetic hearing loss
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:220290"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0019589
name: obsolete syndromic genetic hearing loss
subset: ordo_group_of_disorders {source="Orphanet:90642"}
synonym: "obsolete syndromic genetic hearing loss" EXACT CLINGEN_LABEL []
synonym: "syndromic genetic deafness" NARROW []
synonym: "syndromic hearing loss" BROAD []
xref: GARD:19145 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H90.3 {source="Orphanet:90642", source="Orphanet:90642/attributed", source="Orphanet:90642/ntbt"}
xref: icd11.foundation:186534168 {source="MONDO:obsoleteEquivalent", source="Orphanet:90642", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:90642 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:232333009 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI
is_obsolete: true
consider: MONDO:0005365

[Term]
id: MONDO:0019590
name: obsolete rare endocrine growth disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:90692"}
xref: GARD:19146 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:90692 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019591
name: panhypopituitarism
def: "Insufficient production of all the anterior pituitary hormones." [NCIT:P378]
subset: gard_rare {source="GARD:15020", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90695"}
subset: orphanet_rare {source="Orphanet:90695"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complete hypopituitarism" EXACT [NCIT:C110940]
synonym: "Simmond's disease" EXACT [DOID:9410]
synonym: "Simmonds' disease" EXACT [DOID:9410]
xref: DOID:9410 {source="MONDO:equivalentTo"}
xref: GARD:15020 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:90695/inclusion", source="Orphanet:90695", source="DOID:9410", source="Orphanet:90695/ntbt"}
xref: ICD9:253.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9410"}
xref: MedDRA:10033662 {source="Orphanet:90695", source="Orphanet:90695/e"}
xref: MEDGEN:69171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580003 {source="DOID:9410"}
xref: NCIT:C110940 {source="MONDO:equivalentTo", source="DOID:9410"}
xref: Orphanet:90695 {source="MONDO:equivalentTo"}
xref: SCTID:154700009 {source="DOID:9410"}
xref: SCTID:190469009 {source="DOID:9410"}
xref: SCTID:190475000 {source="DOID:9410"}
xref: SCTID:267481002 {source="DOID:9410"}
xref: SCTID:32390006 {source="MONDO:equivalentTo", source="DOID:9410"}
xref: UMLS:C0242343 {source="MEDGEN:69171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005152 {source="DOID:9410", source="MONDO:Redundant", source="NCIT:C110940"} ! hypopituitarism
is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0019592
name: obsolete disorder of sex development
def: "OBSOLETE. In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included." [MESH:D012734]
is_obsolete: true
replaced_by: MONDO:0002145

[Term]
id: MONDO:0019593
name: obsolete 46,XX disorder of sex development induced by fetal androgens excess
subset: ordo_group_of_disorders {source="Orphanet:90776"}
synonym: "46,XX DSD induced by fetal androgens excess" EXACT [Orphanet:90776]
synonym: "46,XX DSD induced by foetal androgens excess" EXACT OMO:0003005 []
xref: GARD:19148 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E25.0 {source="Orphanet:90776", source="Orphanet:90776/attributed", source="Orphanet:90776/ntbt"}
xref: Orphanet:90776 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019594
name: obsolete 46,XY disorder of sex development due to a testosterone synthesis defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin'
subset: ordo_group_of_disorders {source="Orphanet:90783"}
synonym: "46,XY DSD due to a testosterone synthesis defect" EXACT [Orphanet:90783]
xref: GARD:19149 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:90783 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017969

[Term]
id: MONDO:0019595
name: obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin'
subset: ordo_group_of_disorders {source="Orphanet:90786"}
synonym: "46,XY DSD due to adrenal and testicular steroidogenesis defect" EXACT [Orphanet:90786]
xref: GARD:19150 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:90786 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017969

[Term]
id: MONDO:0019596
name: obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin'
subset: ordo_group_of_disorders {source="Orphanet:90787"}
synonym: "46,XY DSD due to testicular steroidogenesis defect" EXACT [Orphanet:90787]
xref: GARD:19151 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E29.1 {source="Orphanet:90787", source="Orphanet:90787/attributed", source="Orphanet:90787/ntbt"}
xref: Orphanet:90787 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017969

[Term]
id: MONDO:0019597
name: obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
def: "OBSOLETE. 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." [Orphanet:90796]
subset: ordo_disorder {source="Orphanet:90796"}
xref: GARD:16794 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E29.1 {source="Orphanet:90796", source="Orphanet:90796/attributed", source="Orphanet:90796/ntbt"}
xref: Orphanet:90796 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019598
name: obsolete fragile X syndrome
is_obsolete: true
replaced_by: MONDO:0010383

[Term]
id: MONDO:0019599
name: obsolete primary lipodystrophy
def: "OBSOLETE. Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." [Orphanet:90970]
subset: ordo_group_of_disorders {source="Orphanet:90970"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:12596 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E88.1 {source="Orphanet:90970", source="Orphanet:90970/attributed", source="Orphanet:90970/ntbt"}
xref: Orphanet:90970 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019600
name: xeroderma pigmentosum
def: "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV)." [Orphanet:910]
subset: gard_rare {source="GARD:7910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1870"}
subset: ordo_disorder {source="Orphanet:910"}
subset: orphanet_rare {source="Orphanet:910"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioma pigmentosum atrophicum" EXACT [NCIT:C3452]
synonym: "atrophoderma pigmentosum" EXACT [NCIT:C3452]
synonym: "Kaposi dermatosis" EXACT [NCIT:C3452]
synonym: "Kaposi disease" EXACT [NCIT:C3452]
synonym: "melanosis lenticularis progressiva" EXACT [NCIT:C3452]
synonym: "pigmented epitheliomatosis" EXACT [NCIT:C3452]
synonym: "xeroderma of Kaposi" EXACT [NCIT:C3452]
synonym: "xeroderma pigmentosa" RELATED [GARD:0007910]
synonym: "xeroderma pigmentosum syndrome" EXACT [NCIT:C3452]
synonym: "XP" EXACT ABBREVIATION [Orphanet:910]
xref: DOID:0050427 {source="MONDO:equivalentTo"}
xref: GARD:7910 {source="MONDO:GARD"}
xref: ICD10CM:Q82.1 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/specific", source="Orphanet:910/e"}
xref: icd11.foundation:1243068849 {source="Orphanet:910", source="MONDO:equivalentTo"}
xref: MedDRA:10048220 {source="Orphanet:910", source="Orphanet:910/e"}
xref: MEDGEN:21943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014983 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/e"}
xref: NANDO:1200608 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100286 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201002 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3452 {source="MONDO:equivalentTo", source="DOID:0050427"}
xref: NORD:1870 {source="MONDO:NORD"}
xref: Orphanet:910 {source="MONDO:equivalentTo", source="DOID:0050427"}
xref: SCTID:44600005 {source="MONDO:equivalentTo", source="DOID:0050427"}
xref: UMLS:C0043346 {source="MEDGEN:21943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder
is_a: MONDO:0015951 {source="Orphanet:910", source="PMID:27745641"} ! hereditary photodermatosis
is_a: MONDO:0021190 {source="MESH:D014983", source="MONDO:Redundant", source="NCIT:C3452"} ! DNA repair disease
relationship: disease_has_basis_in_disruption_of GO:0070914 ! UV-damage excision repair
relationship: excluded_subClassOf MONDO:0015333 {source="Orphanet:910", source="https://orcid.org/0000-0001-5208-3432"} ! progeroid syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1567" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum" xsd:anyURI {source="GARD:0007910"}

[Term]
id: MONDO:0019601
name: obsolete autosomal recessive axonal hereditary motor and sensory neuropathy
def: "OBSOLETE. Autosomal recessive form of axonal hereditary motor and sensory neuropathy." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:91024"}
synonym: "AR-CMT2" EXACT [Orphanet:91024]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2" EXACT [Orphanet:91024]
synonym: "axonal hereditary motor and sensory neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:12449 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G60.0 {source="Orphanet:91024/inclusion", source="Orphanet:91024", source="Orphanet:91024/ntbt"}
xref: Orphanet:91024 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingHeritability"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0005244

[Term]
id: MONDO:0019602
name: obsolete other inborn metabolic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:91088"}
synonym: "other metabolic disease" RELATED [Orphanet:91088]
xref: GARD:19152 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:91088 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019603
name: osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
def: "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." [Orphanet:91133]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:91133"}
subset: rare
xref: ICD10CM:Q87.5 {source="Orphanet:91133/attributed", source="Orphanet:91133/ntbt", source="Orphanet:91133"}
xref: MEDGEN:928492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91133 {source="MONDO:equivalentObsolete"}
xref: SCTID:722111004 {source="MONDO:equivalentTo"}
xref: UMLS:C4302823 {source="MEDGEN:928492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:91133"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:91133", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019604
name: acquired monoclonal Ig light chain-associated Fanconi syndrome
def: "A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia." [Orphanet:91136]
subset: gard_rare {source="GARD:19154", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:91136"}
subset: orphanet_rare {source="Orphanet:91136"}
subset: rare
synonym: "acquired Fanconi syndrome secondary to monoclonal gammopathy" EXACT [Orphanet:91136]
synonym: "acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome" EXACT [Orphanet:91136]
xref: GARD:19154 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:91136", source="Orphanet:91136/ntbt"}
xref: MEDGEN:1375627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91136 {source="MONDO:equivalentTo"}
xref: SCTID:724099000 {source="MONDO:equivalentTo"}
xref: UMLS:C4510369 {source="MEDGEN:1375627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004960 {source="Orphanet:91136"} ! monoclonal gammopathy

[Term]
id: MONDO:0019605
name: immunotactoid or fibrillary glomerulopathy
def: "A group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG." [https://orcid.org/0000-0001-5208-3432, Orphanet:91137]
subset: disease_grouping
subset: gard_rare {source="GARD:12741", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:91137"}
subset: rare
synonym: "fibrillary glomerulonephritis and immunotactoid glomerulopathy" RELATED [GARD:0012741]
synonym: "Immunotactoid or fibrillary glomerulonephritis" EXACT [Orphanet:91137]
xref: GARD:12741 {source="MONDO:GARD"}
xref: ICD10CM:N03.6 {source="Orphanet:91137", source="Orphanet:91137/ntbt"}
xref: MEDGEN:1842578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91137 {source="MONDO:equivalentTo"}
xref: UMLS:C5680195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842578"}
is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:91137", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy" xsd:anyURI {source="GARD:0012741"}

[Term]
id: MONDO:0019606
name: simple cryoglobulinemia
def: "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C." [Orphanet:91139]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91139"}
subset: orphanet_rare {source="Orphanet:91139"}
subset: rare
synonym: "cryoglobulinemia type 1" EXACT [Orphanet:91139]
xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:91139", source="Orphanet:91139/ntbt"}
xref: MEDGEN:1383731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91139 {source="MONDO:equivalentTo"}
xref: SCTID:723674005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510006 {source="MEDGEN:1383731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015923 {source="Orphanet:91139"} ! acquired peripheral neuropathy

[Term]
id: MONDO:0019607
name: unspecified juvenile idiopathic arthritis
def: "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." [Orphanet:91140]
subset: gard_rare {source="GARD:19155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91140"}
subset: orphanet_rare {source="Orphanet:91140"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "unspecified JIA" EXACT [Orphanet:91140]
xref: EFO:0009734 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19155 {source="MONDO:GARD"}
xref: ICD10CM:M08.8 {source="Orphanet:91140", source="Orphanet:91140/ntbt"}
xref: MEDGEN:1842681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2201061 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:91140 {source="MONDO:equivalentTo"}
xref: UMLS:C5680196 {source="MEDGEN:1842681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011429 {source="Orphanet:91140"} ! juvenile idiopathic arthritis

[Term]
id: MONDO:0019608
name: obsolete 46,XX disorder of sex development induced by maternal-derived androgen
subset: ordo_group_of_disorders {source="Orphanet:91144"}
synonym: "46,XX DSD induced by maternal-derived androgen" EXACT [Orphanet:91144]
xref: GARD:19156 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q56.2 {source="Orphanet:91144/ntbt", source="Orphanet:91144"}
xref: icd11.foundation:293874628 {source="MONDO:obsoleteEquivalent", source="Orphanet:91144", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:91144 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019609
name: Zellweger spectrum disorders
def: "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." [Orphanet:912]
comment: Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61
subset: gard_rare {source="GARD:7917", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1876"}
subset: ordo_disorder {source="Orphanet:912"}
subset: orphanet_rare {source="Orphanet:912"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebrohepatorenal syndrome" EXACT [DOID:905, Orphanet:912]
synonym: "congenital iron overload" EXACT [DOID:905]
synonym: "peroxisome biogenesis disorder" RELATED EXCLUDE [DOID:905]
synonym: "Zellweger leukodystrophy" RELATED [GARD:0007917]
synonym: "Zellweger spectrum disorders" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "Zellweger syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2632, https://www.clinicalgenome.org/affiliation/40049/, Orphanet:912]
synonym: "ZS" EXACT ABBREVIATION [Orphanet:912]
synonym: "ZWS" EXACT ABBREVIATION [GARD:0007917]
xref: DOID:905 {source="MONDO:equivalentTo"}
xref: GARD:7917 {source="MONDO:GARD"}
xref: ICD10CM:E71.510 {source="MONDO:equivalentTo", source="DOID:905"}
xref: ICD10CM:Q87.8 {source="Orphanet:912/inclusion", source="Orphanet:912", source="Orphanet:912/ntbt"}
xref: MEDGEN:21958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015211 {source="MONDO:equivalentTo", source="Orphanet:912", source="DOID:905", source="Orphanet:912/e"}
xref: NANDO:1200760 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C85239 {source="MONDO:equivalentTo", source="DOID:905", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"}
xref: NORD:1876 {source="MONDO:NORD"}
xref: Orphanet:912 {source="MONDO:equivalentTo", source="DOID:905"}
xref: SCTID:88469006 {source="MONDO:equivalentTo", source="DOID:905"}
xref: UMLS:C0043459 {source="MONDO:equivalentTo", source="MEDGEN:21958", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:0019609/inferred", source="MONDO:Redundant", source="NCIT:C85239"} ! syndromic disease
is_a: MONDO:0015327 {source="Orphanet:912"} ! developmental anomaly of metabolic origin
is_a: MONDO:0019234 {source="NCIT:C85239", source="Orphanet:912"} ! peroxisome biogenesis disorder
relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:912", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI

[Term]
id: MONDO:0019610
name: Zollinger-Ellison syndrome
def: "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." [Orphanet:913]
subset: gard_rare {source="GARD:7918", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1877"}
subset: ordo_disorder {source="Orphanet:913"}
subset: orphanet_rare {source="Orphanet:913"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastrinoma" RELATED [Orphanet:913]
synonym: "pancreatic ulcerogenic tumor syndrome" RELATED [GARD:0007918]
synonym: "pancreatic ulcerogenic tumour syndrome" RELATED OMO:0003005 []
synonym: "Z E syndrome" RELATED [GARD:0007918]
synonym: "Z-E syndrome" RELATED []
synonym: "ZES" RELATED ABBREVIATION [GARD:0007918]
synonym: "Zollinger Ellison syndrome" EXACT [NCIT:C3453]
synonym: "Zollinger-Ellison syndrome" EXACT [MONDO:ambiguous, NCIT:C3453]
synonym: "Zollinger-Ellison syndrome (disease)" EXACT [MONDO:0006020]
xref: DOID:0050782 {source="MONDO:equivalentTo", source="EFO:0007549"}
xref: EFO:0007549 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7918 {source="MONDO:GARD"}
xref: HP:0002044 {source="MONDO:otherHierarchy"}
xref: ICD10CM:C25.4 {source="MONDO:relatedTo", source="Orphanet:913", source="Orphanet:913/ntbt"}
xref: ICD10CM:E16.4 {source="DOID:0050782", source="Orphanet:913", source="Orphanet:913/ntbt"}
xref: icd11.foundation:375645550 {source="MONDO:equivalentTo", source="Orphanet:913"}
xref: MedDRA:10017852 {source="Orphanet:913", source="Orphanet:913/e"}
xref: MEDGEN:53129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015043 {source="DOID:0050782", source="MONDO:equivalentTo", source="Orphanet:913", source="EFO:0007549", source="Orphanet:913/e"}
xref: MESH:D015408 {source="Orphanet:913", source="Orphanet:913/e", source="MONDO:directSiblingOf"}
xref: NCIT:C3453 {source="DOID:0050782", source="MONDO:equivalentTo"}
xref: NORD:1877 {source="MONDO:NORD"}
xref: Orphanet:913 {source="MONDO:equivalentTo"}
xref: SCTID:154694003 {source="DOID:0050782"}
xref: SCTID:190443003 {source="DOID:0050782"}
xref: SCTID:267477002 {source="DOID:0050782"}
xref: SCTID:302824004 {source="MONDO:relatedTo"}
xref: SCTID:53132006 {source="DOID:0050782", source="MONDO:equivalentTo"}
xref: UMLS:C0043515 {source="MEDGEN:53129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001770 ! gastrin secretion abnormality
is_a: MONDO:0002254 {source="DOID:0050782", source="MONDO:0019610/inferred", source="MONDO:Redundant", source="NCIT:C3453/inferred"} ! syndromic disease
is_a: MONDO:0021058 {source="NCIT:C3453"} ! neoplastic syndrome
relationship: disease_has_feature MONDO:0001126 ! gastric ulcer
relationship: disease_has_feature MONDO:0015063 {source="Orphanet:913"} ! duodenal neuroendocrine tumor, well differentiated, low or intermediate grade
relationship: disease_has_feature MONDO:0019954 {source="Orphanet:913", source="Orphanet:913/inferred"} ! pancreatic neuroendocrine tumor
relationship: excluded_subClassOf MONDO:0005070 {source="EFO:0007549", source="MESH:D015043/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm

[Term]
id: MONDO:0019611
name: TSH-secreting pituitary adenoma
def: "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism." [NCIT:C8011]
subset: gard_rare {source="GARD:19157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91347"}
subset: orphanet_rare {source="Orphanet:91347"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pituitary thyrotrophic adenoma" EXACT [Orphanet:91347]
synonym: "thyroid stimulating hormone producing adenoma of pituitary" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing adenoma of pituitary gland" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing adenoma of the pituitary" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing adenoma of the pituitary gland" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing pituitary adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone producing pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting adenoma of pituitary" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting adenoma of pituitary gland" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting adenoma of the pituitary" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting pituitary adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone secreting pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone-producing adenoma" EXACT [NCIT:C8011]
synonym: "thyroid stimulating hormone-secreting pituitary adenoma" EXACT [Orphanet:91347]
synonym: "thyrotrope adenoma" EXACT [NCIT:C8011]
synonym: "thyrotroph adenoma" EXACT [NCIT:C8011, Orphanet:91347]
synonym: "thyrotrophic adenoma" EXACT [NCIT:C8011]
synonym: "thyrotropin producing pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "thyrotropinoma" EXACT [NCIT:C8011]
synonym: "TSH producing adenoma of pituitary" EXACT [NCIT:C8011]
synonym: "TSH producing adenoma of pituitary gland" EXACT [NCIT:C8011]
synonym: "TSH producing adenoma of the pituitary" EXACT [NCIT:C8011]
synonym: "TSH producing adenoma of the pituitary gland" EXACT [NCIT:C8011]
synonym: "TSH producing pituitary adenoma" EXACT [NCIT:C8011]
synonym: "TSH producing pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "TSH secreting adenoma of pituitary" EXACT [NCIT:C8011]
synonym: "TSH secreting adenoma of pituitary gland" EXACT [NCIT:C8011]
synonym: "TSH secreting adenoma of the pituitary" EXACT [NCIT:C8011]
synonym: "TSH secreting adenoma of the pituitary gland" EXACT [NCIT:C8011]
synonym: "TSH secreting pituitary adenoma" EXACT [NCIT:C8011]
synonym: "TSH secreting pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "TSH-oma" EXACT [Orphanet:91347]
synonym: "TSH-producing adenoma" EXACT [NCIT:C8011]
synonym: "TSH-producing pituitary gland adenoma" EXACT [NCIT:C8011]
synonym: "TSHoma" EXACT [NCIT:C8011]
xref: GARD:19157 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91347/ntbt", source="Orphanet:91347"}
xref: MEDGEN:87550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200377 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8011 {source="MONDO:equivalentObsolete"}
xref: Orphanet:91347 {source="MONDO:equivalentTo"}
xref: UMLS:C0346303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87550"}
is_a: MONDO:0003429 {source="MONDO:0019611/inferred", source="MONDO:Redundant", source="Orphanet:91347"} ! functioning pituitary gland adenoma
is_a: MONDO:0003837 {source="NCIT:C8011"} ! TSH producing pituitary tumor
is_a: MONDO:0006373 {source="MONDO:0019611/inferred", source="MONDO:Redundant", source="NCIT:C8011", source="Orphanet:91347/inferred"} ! pituitary gland adenoma

[Term]
id: MONDO:0019612
name: functioning gonadotropic adenoma
def: "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)." [Orphanet:91348]
subset: gard_rare {source="GARD:19158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91348"}
subset: orphanet_rare {source="Orphanet:91348"}
subset: rare
synonym: "functioning pituitary gonadotropic adenoma" EXACT [Orphanet:91348]
synonym: "gonadotroph adenoma" EXACT [Orphanet:91348]
xref: GARD:19158 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91348", source="Orphanet:91348/ntbt"}
xref: MEDGEN:577353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91348 {source="MONDO:equivalentTo"}
xref: SCTID:254960002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346304 {source="MEDGEN:577353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003429 {source="MONDO:Redundant", source="Orphanet:91348"} ! functioning pituitary gland adenoma
intersection_of: MONDO:0003429 ! functioning pituitary gland adenoma
intersection_of: realized_in GO:0032274 ! gonadotropin secretion

[Term]
id: MONDO:0019613
name: non-functioning pituitary adenoma
def: "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." [NCIT:C4348]
subset: gard_rare {source="GARD:19159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91349"}
subset: orphanet_rare {source="Orphanet:91349"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "functionless adenoma of pituitary" EXACT [NCIT:C4348]
synonym: "functionless adenoma of pituitary gland" EXACT [NCIT:C4348]
synonym: "functionless adenoma of the pituitary" EXACT [NCIT:C4348]
synonym: "functionless adenoma of the pituitary gland" EXACT [NCIT:C4348]
synonym: "functionless pituitary adenoma" EXACT [NCIT:C4348]
synonym: "functionless pituitary gland adenoma" EXACT [NCIT:C4348]
synonym: "NFPA" EXACT ABBREVIATION [Orphanet:91349]
synonym: "non-functioning adenoma of pituitary" EXACT [NCIT:C4348]
synonym: "non-functioning adenoma of pituitary gland" EXACT [NCIT:C4348]
synonym: "non-functioning adenoma of the pituitary" EXACT [NCIT:C4348]
synonym: "non-functioning adenoma of the pituitary gland" EXACT [NCIT:C4348]
synonym: "non-functioning neoplasm of the pituitary" RELATED EXCLUDE [DOID:5715]
synonym: "non-functioning pituitary adenoma" EXACT [NCIT:C4348]
synonym: "non-functioning pituitary gland adenoma" EXACT [NCIT:C4348]
synonym: "non-secretory adenoma of pituitary" EXACT [NCIT:C4348]
synonym: "non-secretory adenoma of pituitary gland" EXACT [NCIT:C4348]
synonym: "non-secretory adenoma of the pituitary" EXACT [NCIT:C4348]
synonym: "non-secretory adenoma of the pituitary gland" EXACT [NCIT:C4348]
synonym: "non-secretory pituitary adenoma" EXACT [NCIT:C4348]
synonym: "non-secretory pituitary gland adenoma" EXACT [NCIT:C4348]
synonym: "nonfunctional pituitary gland adenoma" EXACT [NCIT:C4348]
synonym: "silent pituitary gland adenoma" EXACT [NCIT:C4348]
xref: DOID:5715 {source="MONDO:equivalentTo"}
xref: EFO:0008516 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19159 {source="MONDO:GARD"}
xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91349/ntbt", source="Orphanet:91349"}
xref: icd11.foundation:1197752358 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:91349"}
xref: NCIT:C4348 {source="MONDO:equivalentTo", source="DOID:5715"}
xref: Orphanet:91349 {source="MONDO:equivalentTo"}
xref: SCTID:254962005 {source="MONDO:equivalentTo", source="DOID:5715"}
is_a: MONDO:0003603 {source="MONDO:Entailed", source="NCIT:C4348"} ! non-functioning pituitary gland neoplasm
is_a: MONDO:0006373 {source="DOID:5715", source="EFO:0008516", source="MONDO:Redundant", source="NCIT:C4348", source="Orphanet:91349"} ! pituitary gland adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
intersection_of: has_characteristic NCIT:C45980 ! Absence of a Hormonal Syndrome

[Term]
id: MONDO:0019614
name: pituitary deficiency due to Rathke's pouch cysts
subset: gard_rare {source="GARD:19160", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91350"}
subset: orphanet_rare {source="Orphanet:91350"}
subset: rare
synonym: "pituitary deficiency due to Rathke's cleft cysts" RELATED [Orphanet:91350]
xref: GARD:19160 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:91350/ntbt", source="MONDO:relatedTo", source="Orphanet:91350"}
xref: MEDGEN:1676440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91350 {source="MONDO:equivalentTo"}
xref: UMLS:C5190782 {source="MEDGEN:1676440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015127 {source="https://orcid.org/0000-0001-5208-3432"} ! pituitary deficiency
relationship: disease_arises_from_structure UBERON:0005356 ! Rathke's pouch

[Term]
id: MONDO:0019615
name: pituitary dermoid and epidermoid cysts
subset: gard_rare {source="GARD:19161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91351"}
subset: orphanet_rare {source="Orphanet:91351"}
subset: rare
xref: GARD:19161 {source="MONDO:GARD"}
xref: MEDGEN:1674582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91351 {source="MONDO:equivalentTo"}
xref: UMLS:C5190781 {source="MONDO:equivalentTo", source="MEDGEN:1674582", source="MONDO:MEDGEN"}
is_a: MONDO:0021227 {source="Orphanet:91351"} ! adrenal gland neoplasm

[Term]
id: MONDO:0019616
name: obsolete germinoma of the central nervous system
is_obsolete: true
replaced_by: MONDO:0002999

[Term]
id: MONDO:0019617
name: pituitary deficiency due to empty sella turcica syndrome
subset: gard_rare {source="GARD:19163", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91354"}
subset: orphanet_rare {source="Orphanet:91354"}
subset: rare
synonym: "hypopituitarism due to empty sella turcica syndrome" EXACT [Orphanet:91354]
xref: GARD:19163 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91354", source="Orphanet:91354/ntbt"}
xref: MEDGEN:902244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91354 {source="MONDO:equivalentTo"}
xref: SCTID:715668008 {source="MONDO:equivalentTo"}
xref: UMLS:C4275064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902244"}
is_a: MONDO:0015127 {source="https://orcid.org/0000-0001-5208-3432"} ! pituitary deficiency

[Term]
id: MONDO:0019618
name: Sheehan syndrome
def: "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset." [NCIT:P378]
subset: gard_rare {source="GARD:7630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91355"}
subset: ordo_malformation_syndrome {source="Orphanet:91355"}
subset: orphanet_rare {source="Orphanet:91355"}
subset: rare
synonym: "postpartum hypopituitarism" EXACT [DOID:9476, NCIT:C35300]
synonym: "postpartum panhypopituitarism" RELATED [GARD:0007630]
synonym: "postpartum panhypopituitary syndrome" RELATED [GARD:0007630]
synonym: "postpartum pituitary necrosis" RELATED [GARD:0007630]
synonym: "Sheehan's syndrome" EXACT [DOID:9476]
xref: DOID:9476 {source="MONDO:equivalentTo"}
xref: GARD:7630 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91355", source="DOID:9476", source="Orphanet:91355/ntbt"}
xref: MedDRA:10036297 {source="Orphanet:91355", source="Orphanet:91355/e"}
xref: MEDGEN:116569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007018 {source="MONDO:relatedTo", source="DOID:9476"}
xref: NCIT:C35300 {source="MONDO:equivalentTo", source="DOID:9476"}
xref: Orphanet:91355 {source="MONDO:equivalentTo"}
xref: SCTID:15045007 {source="DOID:9476"}
xref: SCTID:154703006 {source="DOID:9476"}
xref: SCTID:190469009 {source="DOID:9476"}
xref: SCTID:237684005 {source="DOID:9476"}
xref: SCTID:267482009 {source="DOID:9476"}
xref: SCTID:290653008 {source="MONDO:equivalentTo", source="DOID:9476"}
xref: SCTID:32390006 {source="MONDO:relatedTo", source="DOID:9476"}
xref: UMLS:C0242342 {source="MEDGEN:116569", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C35300"} ! syndromic disease

[Term]
id: MONDO:0019619
name: obsolete duplication of the esophagus
subset: ordo_group_of_disorders {source="Orphanet:91357"}
xref: GARD:19164 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q39.8 {source="Orphanet:91357", source="Orphanet:91357/attributed", source="Orphanet:91357/ntbt"}
xref: Orphanet:91357 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019620
name: congenital esophageal diverticulum
def: "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." [Orphanet:91358]
subset: gard_rare {source="GARD:19165", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91358"}
subset: ordo_morphological_anomaly {source="Orphanet:91358"}
subset: orphanet_rare {source="Orphanet:91358"}
subset: rare
synonym: "congenital esophageal pouch" EXACT [Orphanet:91358]
xref: GARD:19165 {source="MONDO:GARD"}
xref: ICD10CM:Q39.6 {source="Orphanet:91358/attributed", source="Orphanet:91358/ntbt", source="Orphanet:91358"}
xref: icd11.foundation:42183618 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:91358"}
xref: ICD9:750.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91358 {source="MONDO:equivalentTo"}
xref: SCTID:204667006 {source="MONDO:equivalentTo"}
xref: UMLS:C0266133 {source="MEDGEN:539704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 ! disorder of development or morphogenesis
relationship: disease_has_location UBERON:0001043 ! esophagus
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019621
name: chronic pneumonitis of infancy
def: "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD)." [Orphanet:91359]
subset: gard_rare {source="GARD:19166", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91359"}
subset: orphanet_rare {source="Orphanet:91359"}
subset: rare
synonym: "CPI" EXACT ABBREVIATION [Orphanet:91359]
xref: GARD:19166 {source="MONDO:GARD"}
xref: ICD10CM:J84.0 {source="Orphanet:91359", source="Orphanet:91359/ntbt"}
xref: icd11.foundation:1821220054 {source="MONDO:equivalentTo", source="Orphanet:91359"}
xref: MEDGEN:846677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91359 {source="MONDO:equivalentTo"}
xref: SCTID:708026002 {source="MONDO:equivalentTo"}
xref: UMLS:C3872848 {source="MEDGEN:846677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017019 {source="Orphanet:91359"} ! interstitial lung disease specific to infancy
relationship: disease_has_inflammation_site UBERON:0002048 ! lung

[Term]
id: MONDO:0019622
name: non-specific interstitial pneumonia
def: "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia." [NCIT:C35717]
subset: gard_rare {source="GARD:19167", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91364"}
subset: orphanet_rare {source="Orphanet:91364"}
subset: rare
synonym: "non-specific idiopathic interstitial pneumonia" EXACT [Orphanet:91364]
synonym: "nonspecific interstitial pneumonia" EXACT [MONDO:0002431]
synonym: "NSIP" EXACT ABBREVIATION [DOID:2801, Orphanet:91364]
xref: DOID:2801 {source="MONDO:equivalentTo"}
xref: GARD:19167 {source="MONDO:GARD"}
xref: ICD10CM:J84.8 {source="Orphanet:91364/ntbt", source="Orphanet:91364"}
xref: ICD9:516.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200419 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35717 {source="MONDO:equivalentTo", source="DOID:2801"}
xref: Orphanet:91364 {source="MONDO:equivalentTo"}
xref: SCTID:129452008 {source="MONDO:equivalentTo", source="DOID:2801"}
xref: UMLS:C1290344 {source="MEDGEN:220936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002429 {source="DOID:2801", source="NCIT:C35717", source="Orphanet:91364", source="Wikipedia:Idiopathic_interstitial_pneumonia"} ! idiopathic interstitial pneumonia

[Term]
id: MONDO:0019623
name: hereditary angioedema
def: "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." [Orphanet:91378]
subset: gard_rare {source="GARD:5979", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:91378"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioedema, hereditary" RELATED [GARD:0005979]
synonym: "deficiency of C1 esterase inhibitor" RELATED [GARD:0005979]
synonym: "familial angioneurotic edema" EXACT [Orphanet:91378]
synonym: "familial angioneurotic oedema" EXACT OMO:0003005 []
synonym: "HAE" EXACT ABBREVIATION [Orphanet:91378]
synonym: "HANE" EXACT ABBREVIATION [DOID:14735]
synonym: "hereditary angioedema" EXACT [DOID:14735, MONDO:patterns/hereditary]
synonym: "hereditary angioneurotic edema" EXACT [Orphanet:91378]
synonym: "hereditary angioneurotic oedema" EXACT OMO:0003005 []
synonym: "hereditary bradykinine-induced angioedema" EXACT [Orphanet:91378]
synonym: "hereditary non histamine-induced angioedema" EXACT [Orphanet:91378]
xref: DOID:14735 {source="MONDO:equivalentTo"}
xref: GARD:5979 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="Orphanet:91378/inclusion", source="Orphanet:91378", source="Orphanet:91378/ntbt"}
xref: icd11.foundation:795969334 {source="MONDO:equivalentTo", source="Orphanet:91378"}
xref: MedDRA:10019860 {source="Orphanet:91378", source="Orphanet:91378/e"}
xref: MEDGEN:9229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054179 {source="DOID:14735", source="MONDO:equivalentTo"}
xref: NANDO:1200365 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200795 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84758 {source="DOID:14735", source="MONDO:equivalentTo"}
xref: OMIMPS:106100 {source="MONDO:equivalentTo"}
xref: Orphanet:91378 {source="MONDO:equivalentTo"}
xref: SCTID:82966003 {source="DOID:14735", source="MONDO:equivalentTo"}
xref: UMLS:C0019243 {source="MEDGEN:9229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:D054179", source="MONDO:Entailed", source="Orphanet:91378"} ! hereditary disease
is_a: MONDO:0010481 {source="DOID:14735", source="MESH:D054179", source="MONDO:Redundant"} ! angioedema
intersection_of: MONDO:0010481 ! angioedema
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:106100"} ! inherited

[Term]
id: MONDO:0019624
name: acquired angioedema
def: "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency." [Orphanet:91385]
subset: gard_rare {source="GARD:8605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:91385"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AAE" EXACT ABBREVIATION [Orphanet:91385]
synonym: "acquired angioedema" EXACT [MONDO:patterns/acquired]
synonym: "acquired angioneurotic edema" EXACT [Orphanet:91385]
synonym: "acquired angioneurotic oedema" EXACT OMO:0003005 []
synonym: "acquired bradykinine-induced angioedema" EXACT [Orphanet:91385]
synonym: "acquired C1 inhibitor deficiency" EXACT [Orphanet:91385]
synonym: "acquired non histamine-induced angioedema" EXACT [Orphanet:91385]
synonym: "angioedema, acquired" RELATED [GARD:0008605]
xref: DOID:0080941 {source="MONDO:equivalentTo"}
xref: GARD:8605 {source="MONDO:GARD"}
xref: ICD10CM:T78.3 {source="Orphanet:91385", source="Orphanet:91385/e"}
xref: icd11.foundation:1078767412 {source="Orphanet:91385", source="MONDO:equivalentTo"}
xref: MEDGEN:419486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538173 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"}
xref: Orphanet:91385 {source="MONDO:equivalentTo"}
xref: UMLS:C2931758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419486"}
is_a: MONDO:0010481 {source="MESH:C538173"} ! angioedema
intersection_of: MONDO:0010481 ! angioedema
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0019013 {source="Orphanet:91385", source="https://orcid.org/0000-0001-5208-3432"} ! non-histaminic angioedema
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema" xsd:anyURI {source="GARD:0008605"}

[Term]
id: MONDO:0019625
name: familial thoracic aortic aneurysm and aortic dissection
def: "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." [Orphanet:91387]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91387"}
subset: orphanet_rare {source="Orphanet:91387"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "annuloaortic ectasia" RELATED [Orphanet:229]
synonym: "cystic medial necrosis of aorta" RELATED [Orphanet:229]
synonym: "Erdheim cystic medial necrosis of aorta" RELATED [GARD:0001654]
synonym: "Erdheim disease" EXACT [GARD:0001654, Orphanet:229]
synonym: "familial aortic aneurysm" RELATED [GARD:0002249]
synonym: "familial aortic dissection" EXACT [GARD:0001654, OMIMPS:607086, Orphanet:229]
synonym: "familial TAAD" EXACT [Orphanet:91387]
synonym: "familial thoracic aortic aneurysm" RELATED [GARD:0002249]
synonym: "familial thoracic aortic aneurysm and aortic dissection" EXACT CLINGEN_LABEL []
synonym: "familial thoracic aortic aneurysm and dissection" RELATED [GARD:0002249]
synonym: "FTAAD" EXACT ABBREVIATION []
xref: GARD:2249 {source="MONDO:GARD"}
xref: ICD10CM:I71.0 {source="Orphanet:229/attributed", source="Orphanet:229/ntbt", source="Orphanet:229"}
xref: ICD10CM:Q87.4 {source="Orphanet:91387", source="Orphanet:91387/attributed", source="Orphanet:91387/ntbt"}
xref: ICD9:447.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1644766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:607086 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:229 {source="GARD:0001654", source="OMIM:607086"}
xref: Orphanet:91387 {source="MONDO:equivalentTo", source="OMIM:607086"}
xref: SCTID:45894003 {source="MONDO:equivalentTo"}
xref: SCTID:764965000 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C4707243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644766"}
is_a: MONDO:0005385 {source="Orphanet:91387", source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder
relationship: excluded_subClassOf MONDO:0017310 {source="Orphanet:91387", source="https://orcid.org/0000-0001-5208-3432"} ! Marfan and Marfan-related disorder
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607086"} ! inherited

[Term]
id: MONDO:0019626
name: isolated ankyloblepharon filiforme adnatum
def: "Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." [Orphanet:91397]
subset: gard_rare {source="GARD:19168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91397"}
subset: ordo_morphological_anomaly {source="Orphanet:91397"}
subset: orphanet_rare {source="Orphanet:91397"}
subset: rare
xref: GARD:19168 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:91397/attributed", source="Orphanet:91397/ntbt", source="Orphanet:91397"}
xref: icd11.foundation:1002292151 {source="Orphanet:91397", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:227001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91397 {source="MONDO:equivalentTo"}
xref: UMLS:C1302999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:227001"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:91397", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0019627
name: isolated congenital alacrima
def: "Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth." [Orphanet:91416]
subset: gard_rare {source="GARD:16799", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91416"}
subset: orphanet_rare {source="Orphanet:91416"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nonsyndromic congenital alacrima" EXACT [MONDO:patterns/isolated]
xref: GARD:16799 {source="MONDO:GARD"}
xref: ICD10CM:Q10.6 {source="Orphanet:91416/attributed", source="Orphanet:91416/ntbt", source="Orphanet:91416"}
xref: MEDGEN:896261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91416 {source="MONDO:equivalentTo"}
xref: SCTID:717262004 {source="MONDO:equivalentTo"}
xref: UMLS:C4273963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896261"}
is_a: MONDO:0001854 {source="https://orcid.org/0000-0001-5208-3432"} ! lacrimal apparatus disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0019628
name: Rieger anomaly
def: "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly." [Orphanet:91483]
subset: gard_rare {source="GARD:16482", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91483"}
subset: ordo_morphological_anomaly {source="Orphanet:91483"}
subset: orphanet_rare {source="Orphanet:91483"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16482 {source="MONDO:GARD"}
xref: ICD10CM:Q13.8 {source="Orphanet:91483/inclusion", source="Orphanet:91483", source="Orphanet:91483/ntbt"}
xref: MedDRA:10059198 {source="Orphanet:91483", source="Orphanet:91483/e"}
xref: MEDGEN:78558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91483 {source="MONDO:equivalentTo"}
xref: UMLS:C0265341 {source="MEDGEN:78558", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011119 {source="Orphanet:91483"} ! iridogoniodysgenesis

[Term]
id: MONDO:0019629
name: sclerocornea
def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." [DOID:0060252, http://en.wikipedia.org/wiki/Sclerocornea, PMID:3994576]
subset: gard_rare {source="GARD:16800", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91490"}
subset: ordo_morphological_anomaly {source="Orphanet:91490"}
subset: orphanet_rare {source="Orphanet:91490"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated congenital sclerocornea" EXACT [DOID:0060252]
synonym: "sclerocornea" EXACT [MONDO:ambiguous]
synonym: "sclerocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060252 {source="MONDO:equivalentTo"}
xref: GARD:16800 {source="MONDO:GARD"}
xref: HP:0000647 {source="DOID:0060252", source="MONDO:otherHierarchy"}
xref: ICD10CM:Q13.3 {source="Orphanet:91490/specific", source="Orphanet:91490/e", source="Orphanet:91490"}
xref: MEDGEN:344000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565209 {source="DOID:0060252", source="MONDO:equivalentTo"}
xref: Orphanet:91490 {source="DOID:0060252", source="MONDO:equivalentTo"}
xref: UMLS:C1853235 {source="MEDGEN:344000", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="DOID:0060252", source="MESH:C565209"} ! corneal disorder
property_value: IAO:0000589 "sclerocornea (disease)" xsd:string

[Term]
id: MONDO:0019630
name: congenital ectropion uveae
def: "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." [Orphanet:91491]
subset: gard_rare {source="GARD:19169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91491"}
subset: ordo_malformation_syndrome {source="Orphanet:91491"}
subset: orphanet_rare {source="Orphanet:91491"}
subset: rare
xref: GARD:19169 {source="MONDO:GARD"}
xref: ICD10CM:Q10.1 {source="Orphanet:91491", source="MONDO:relatedTo", source="Orphanet:91491/attributed", source="Orphanet:91491/ntbt"}
xref: MEDGEN:724517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:91491 {source="MONDO:equivalentTo"}
xref: UMLS:C1303012 {source="MEDGEN:724517", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011119 {source="Orphanet:91491"} ! iridogoniodysgenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019631
name: persistent hyperplastic primary vitreous
def: "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" [MESH:D054514]
subset: gard_rare {source="GARD:16803", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91495"}
subset: orphanet_rare {source="Orphanet:91495"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital retinal detachment" EXACT [Orphanet:91495]
synonym: "ncRNA disease" EXACT [Orphanet:91495]
synonym: "non-syndromic congenital retinal non-attachment" EXACT [Orphanet:91495]
synonym: "persistent fetal vasculature syndrome" EXACT [Orphanet:91495]
synonym: "persistent foetal vasculature syndrome" EXACT OMO:0003005 []
synonym: "PFVS" EXACT ABBREVIATION [Orphanet:91495]
synonym: "PHPV" EXACT ABBREVIATION [Orphanet:91495]
xref: DOID:0060282 {source="MONDO:equivalentTo"}
xref: GARD:16803 {source="MONDO:GARD"}
xref: ICD10CM:Q14.0 {source="Orphanet:91495/attributed", source="Orphanet:91495/ntbt", source="Orphanet:91495"}
xref: MEDGEN:120583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054514 {source="Orphanet:91495", source="MONDO:equivalentTo", source="Orphanet:91495/e", source="DOID:0060282"}
xref: NCIT:C161554 {source="MONDO:equivalentTo"}
xref: OMIMPS:221900 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:91495 {source="MONDO:equivalentTo", source="DOID:0060282"}
xref: SCTID:314270008 {source="MONDO:equivalentTo", source="DOID:0060282"}
xref: SCTID:44647001 {source="DOID:0060282"}
xref: SCTID:69927002 {source="DOID:0060282"}
xref: UMLS:C0266568 {source="MONDO:equivalentTo", source="MEDGEN:120583", source="MONDO:MEDGEN"}
is_a: MONDO:0004860 {source="DOID:0060282"} ! vitreous disorder
is_a: MONDO:0020247 {source="Orphanet:91495"} ! congenital vitreoretinal dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:221900"} ! inherited

[Term]
id: MONDO:0019632
name: Lyme disease
def: "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi." [Orphanet:91546]
subset: ordo_disorder {source="Orphanet:91546"}
subset: orphanet_rare {source="Orphanet:91546"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bannwarth syndrome" EXACT [DOID:11729]
synonym: "Bannworth's syndrome" EXACT [DOID:11729]
synonym: "Borrelia" EXACT [NCIT:C45161]
synonym: "Borrelia burgdorferi infection" EXACT [NCIT:C45161]
synonym: "Borreliella burgdorferi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Borreliella burgdorferi disease or disorder" EXACT []
synonym: "Borreliella burgdorferi infectious disease" EXACT []
synonym: "Lyme borreliosis" EXACT [DOID:11729, Orphanet:91546]
synonym: "Lyme disease" EXACT [NCIT:C45161]
synonym: "Lyme neuroborreliosis" EXACT [DOID:11729]
synonym: "neuroborreliosis" EXACT [DOID:11729]
synonym: "neurological Lyme disease" EXACT [DOID:11729]
xref: DOID:11729 {source="MONDO:equivalentTo"}
xref: EFO:0008510 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A69.2 {source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"}
xref: ICD10CM:A69.20 {source="DOID:11729"}
xref: icd11.foundation:1600014919 {source="MONDO:equivalentTo", source="Orphanet:91546", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:088.81 {source="DOID:11729"}
xref: MedDRA:10025169 {source="Orphanet:91546/e", source="Orphanet:91546"}
xref: MEDGEN:44213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008193 {source="Orphanet:91546/e", source="MONDO:equivalentTo", source="DOID:11729", source="Orphanet:91546"}
xref: MESH:D020852 {source="DOID:11729"}
xref: NCIT:C45161 {source="MONDO:equivalentTo", source="DOID:11729"}
xref: Orphanet:91546 {source="MONDO:equivalentTo"}
xref: SCTID:154376000 {source="DOID:11729"}
xref: SCTID:23502006 {source="DOID:11729"}
xref: SCTID:240672009 {source="DOID:11729"}
xref: SCTID:48982009 {source="MONDO:equivalentTo", source="DOID:11729"}
xref: UMLS:C0024198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44213"}
is_a: MONDO:0000314 {source="DOID:11729"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="DOID:11729/inferred", source="EFO:0008510/inferred", source="MESH:D008193/inferred", source="MONDO:Redundant", source="NCIT:C45161", source="Orphanet:91546"} ! bacterial infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:139 ! Borreliella burgdorferi
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_feature HP:0011675 {source="MONDO:Wikidata"} ! Arrhythmia
relationship: disease_has_infectious_agent NCBITaxon:139 {source="MONDO:Wikidata"} ! Borreliella burgdorferi
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare
relationship: transmitted_by NCBITaxon:29930 ! Ixodes pacificus
relationship: transmitted_by NCBITaxon:6945 ! Ixodes scapularis

[Term]
id: MONDO:0019633
name: relapsing fever
def: "Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex." [Orphanet:91547]
subset: gard_rare {source="GARD:19171", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:91547"}
subset: orphanet_rare {source="Orphanet:91547"}
subset: rare
xref: DOID:13034 {source="MONDO:equivalentTo"}
xref: GARD:19171 {source="MONDO:GARD"}
xref: ICD10CM:A68 {source="MONDO:equivalentTo", source="DOID:13034"}
xref: ICD10CM:A68.0 {source="Orphanet:91547/btnt", source="Orphanet:91547"}
xref: ICD10CM:A68.1 {source="Orphanet:91547/btnt", source="Orphanet:91547"}
xref: ICD10CM:A68.9 {source="Orphanet:91547/btnt", source="DOID:13034", source="Orphanet:91547"}
xref: icd11.foundation:965498095 {source="MONDO:equivalentTo", source="Orphanet:91547"}
xref: ICD9:087 {source="DOID:13034"}
xref: ICD9:087.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13034"}
xref: MedDRA:10038300 {source="Orphanet:91547/e", source="Orphanet:91547"}
xref: MEDGEN:48397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012061 {source="Orphanet:91547/e", source="MONDO:equivalentTo", source="DOID:13034", source="Orphanet:91547"}
xref: Orphanet:91547 {source="MONDO:equivalentTo"}
xref: SCTID:186820006 {source="DOID:13034"}
xref: SCTID:186822003 {source="DOID:13034"}
xref: SCTID:187374004 {source="DOID:13034"}
xref: SCTID:420079008 {source="MONDO:equivalentTo", source="DOID:13034"}
xref: SCTID:46107006 {source="DOID:13034"}
xref: UMLS:C0035021 {source="MONDO:equivalentTo", source="MEDGEN:48397", source="MONDO:MEDGEN"}
is_a: MONDO:0000314 {source="DOID:13034"} ! primary bacterial infectious disease
is_a: MONDO:0005113 {source="Orphanet:91547"} ! bacterial infectious disease
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
relationship: disease_has_infectious_agent NCBITaxon:138 ! Borrelia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015575"} ! rare

[Term]
id: MONDO:0019634
name: familial nasal acilia
def: "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions." [Orphanet:922]
subset: gard_rare {source="GARD:2254", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:922"}
subset: orphanet_rare {source="Orphanet:922"}
subset: rare
xref: GARD:2254 {source="MONDO:GARD"}
xref: ICD10CM:Q30.8 {source="Orphanet:922/attributed", source="Orphanet:922/ntbt", source="Orphanet:922"}
xref: MEDGEN:1647725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:922 {source="MONDO:equivalentTo"}
xref: SCTID:763532008 {source="MONDO:equivalentTo"}
xref: UMLS:C4706505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647725"}
is_a: MONDO:0018751 {source="Orphanet:922"} ! hereditary otorhinolaryngologic disease
is_a: MONDO:0024623 {source="Orphanet:922"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia" xsd:anyURI {source="GARD:0002254"}

[Term]
id: MONDO:0019635
name: idiopathic achalasia
def: "A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition." [Orphanet:930]
subset: gard_rare {source="GARD:5708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:930"}
subset: orphanet_rare {source="Orphanet:930"}
subset: rare
synonym: "achalasia cardia" EXACT [Orphanet:930]
synonym: "idiopathic achalasia of esophagus" EXACT [Orphanet:930]
synonym: "idiopathic achalasia of oesophagus" EXACT OMO:0003005 []
synonym: "primary achalasia" EXACT [Orphanet:930]
xref: GARD:5708 {source="MONDO:GARD"}
xref: ICD10CM:K22.0 {source="Orphanet:930", source="Orphanet:930/e"}
xref: MedDRA:10036669 {source="Orphanet:930", source="Orphanet:930/e"}
xref: MEDGEN:798339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536011 {source="Orphanet:930", source="Orphanet:930/e"}
xref: Orphanet:930 {source="MONDO:equivalentTo"}
xref: SCTID:715192004 {source="MONDO:equivalentTo"}
xref: UMLS:C0859976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:798339"}
intersection_of: MONDO:0008698 ! achalasia
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4055" xsd:anyURI

[Term]
id: MONDO:0019636
name: renal agenesis, unilateral
def: "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter." [Orphanet:93100]
subset: gard_rare {source="GARD:16804", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93100"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital single kidney" EXACT [NCIT:C101220]
synonym: "congenital solitary kidney" EXACT [NCIT:C101220]
synonym: "unilateral renal agenesis" EXACT [NCIT:C101220]
xref: GARD:16804 {source="MONDO:GARD"}
xref: ICD10CM:Q60.0 {source="Orphanet:93100", source="MONDO:equivalentTo", source="Orphanet:93100/e", source="Orphanet:93100/specific"}
xref: MedDRA:10053624 {source="Orphanet:93100", source="Orphanet:93100/e"}
xref: MEDGEN:75607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C101220 {source="MONDO:equivalentTo"}
xref: Orphanet:93100 {source="MONDO:equivalentTo"}
xref: UMLS:C0266294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75607"}
is_a: MONDO:0018470 {source="NCIT:C101220", source="Orphanet:93100"} ! renal agenesis

[Term]
id: MONDO:0019637
name: renal hypoplasia
def: "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." [Orphanet:93101]
subset: gard_rare {source="GARD:19172", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93101"}
subset: ordo_morphological_anomaly {source="Orphanet:93101"}
subset: orphanet_rare {source="Orphanet:93101"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "renal hypoplasia" EXACT [MONDO:ambiguous]
synonym: "renal hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0080204 {source="MONDO:equivalentTo"}
xref: GARD:19172 {source="MONDO:GARD"}
xref: HP:0000089 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q60.3 {source="Orphanet:93101", source="Orphanet:93101/specific", source="Orphanet:93101/e"}
xref: ICD10CM:Q60.4 {source="Orphanet:93101", source="Orphanet:93101/specific", source="Orphanet:93101/e"}
xref: ICD10CM:Q60.5 {source="Orphanet:93101", source="Orphanet:93101/specific", source="Orphanet:93101/e"}
xref: MedDRA:10049102 {source="Orphanet:93101", source="Orphanet:93101/e"}
xref: MEDGEN:120571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200155 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:93101 {source="MONDO:equivalentTo", source="DOID:0080204"}
xref: SCTID:32659003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266295 {source="MEDGEN:120571", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="DOID:0080204", source="MONDO:Redundant", source="Orphanet:93101", source="Orphanet:93101/inferred"} ! kidney disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:93101", source="Orphanet:93101/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare
property_value: IAO:0000589 "renal hypoplasia (disease)" xsd:string

[Term]
id: MONDO:0019638
name: renal dysplasia
def: "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." [Orphanet:93108]
subset: gard_rare {source="GARD:19173", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93108"}
subset: ordo_morphological_anomaly {source="Orphanet:93108"}
subset: orphanet_rare {source="Orphanet:93108"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "renal dysplasia" EXACT [MONDO:ambiguous]
synonym: "renal dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19173 {source="MONDO:GARD"}
xref: HP:0000110 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q61.4 {source="Orphanet:93108/e", source="Orphanet:93108/specific", source="Orphanet:93108"}
xref: icd11.foundation:921320354 {source="MONDO:equivalentTo", source="Orphanet:93108"}
xref: MEDGEN:760690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200161 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:93108 {source="MONDO:equivalentTo"}
xref: UMLS:C3536714 {source="MEDGEN:760690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:93108", source="Orphanet:93108/inferred"} ! kidney disorder
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:93108", source="Orphanet:93108/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare
property_value: IAO:0000589 "renal dysplasia (disease)" xsd:string

[Term]
id: MONDO:0019639
name: congenital megacalycosis
def: "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection." [Orphanet:93109]
subset: gard_rare {source="GARD:19174", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93109"}
subset: ordo_morphological_anomaly {source="Orphanet:93109"}
subset: orphanet_rare {source="Orphanet:93109"}
subset: rare
xref: GARD:19174 {source="MONDO:GARD"}
xref: ICD10CM:Q63.8 {source="Orphanet:93109/ntbt", source="Orphanet:93109"}
xref: ICD9:753.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1782490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200177 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:93109 {source="MONDO:equivalentTo"}
xref: SCTID:85901000 {source="MONDO:equivalentTo"}
xref: UMLS:C5545379 {source="MEDGEN:1782490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019640
name: posterior urethral valve
def: "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying." [Orphanet:93110]
subset: gard_rare {source="GARD:7439", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:242851"}
subset: ordo_disorder {source="Orphanet:93110"}
subset: ordo_morphological_anomaly {source="Orphanet:93110"}
subset: orphanet_rare {source="Orphanet:93110"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital posterior urethral valves" EXACT [NCIT:C99021]
synonym: "Posterior Urethral Valves" EXACT [NORD:242851]
synonym: "Posterior urethral valves" RELATED [GARD:0007439]
synonym: "PUV" EXACT ABBREVIATION [Orphanet:93110]
xref: GARD:7439 {source="MONDO:GARD"}
xref: ICD10CM:Q64.2 {source="Orphanet:93110/attributed", source="Orphanet:93110/ntbt", source="Orphanet:93110"}
xref: ICD9:753.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10036369 {source="Orphanet:93110", source="Orphanet:93110/e"}
xref: MEDGEN:451008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99021 {source="MONDO:equivalentTo"}
xref: NORD:242851 {source="MONDO:NORD"}
xref: Orphanet:93110 {source="MONDO:equivalentTo"}
xref: SCTID:253900005 {source="MONDO:equivalentTo"}
xref: UMLS:C0238506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:451008"}
is_a: MONDO:0018559 {source="Orphanet:93110"} ! fetal lower urinary tract obstruction

[Term]
id: MONDO:0019641
name: Pauci-immune glomerulonephritis
def: "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA." [Orphanet:93126]
subset: gard_rare {source="GARD:19175", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93126"}
subset: orphanet_rare {source="Orphanet:93126"}
subset: rare
xref: GARD:19175 {source="MONDO:GARD"}
xref: ICD10CM:N05.7 {source="Orphanet:93126", source="Orphanet:93126/ntbt"}
xref: icd11.foundation:1359757645 {source="MONDO:equivalentTo", source="Orphanet:93126", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:575439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93126 {source="MONDO:equivalentTo"}
xref: UMLS:C0343196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575439"}
is_a: MONDO:0002462 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerulonephritis
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:93126", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease

[Term]
id: MONDO:0019642
name: vitamin D-dependent rickets, type 2
def: "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." [Orphanet:93160]
comment: Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A
subset: gard_rare {source="GARD:16805", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:93160"}
subset: orphanet_rare {source="Orphanet:93160"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor" EXACT [NCIT:C131077]
synonym: "hereditary vitamin D-resistant rickets" EXACT [Orphanet:93160]
synonym: "HVDRR" EXACT ABBREVIATION [Orphanet:93160]
synonym: "hypocalcemic vitamin D-resistant rickets" EXACT [Orphanet:93160]
synonym: "VDDR II" EXACT [Orphanet:93160]
synonym: "VDDR2" EXACT ABBREVIATION [NCIT:C131077]
synonym: "VDRR II" EXACT [Orphanet:93160]
synonym: "vitamin D dependent rickets 2" EXACT [NCIT:C131077]
synonym: "vitamin D receptor deficiency" EXACT [NCIT:C131077]
synonym: "vitamin D-dependent rickets type II" EXACT [Orphanet:93160]
synonym: "vitamin D-dependent rickets, type 2" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "vitamin D-resistant rickets type II" EXACT [Orphanet:93160]
xref: GARD:16805 {source="MONDO:GARD"}
xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:93160/attributed", source="Orphanet:93160/ntbt", source="Orphanet:93160"}
xref: icd11.foundation:2041886796 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:93160"}
xref: MEDGEN:760752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200783 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131077 {source="MONDO:equivalentTo"}
xref: Orphanet:93160 {source="MONDO:equivalentTo"}
xref: SCTID:72831007 {source="MONDO:equivalentTo"}
xref: UMLS:C3536983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760752"}
is_a: MONDO:0005520 {source="MONDO:Redundant", source="NCIT:C131077"} ! rickets
is_a: MONDO:0017323 {source="Orphanet:93160"} ! hypocalcemic rickets
is_a: MONDO:0024299 {source="https://orcid.org/0000-0002-6601-2165"} ! vitamin D-dependent rickets

[Term]
id: MONDO:0019643
name: transient pseudohypoaldosteronism
def: "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." [Orphanet:93164]
subset: gard_rare {source="GARD:19176", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93164"}
subset: ordo_malformation_syndrome {source="Orphanet:93164"}
subset: orphanet_rare {source="Orphanet:93164"}
subset: rare
synonym: "TPHA" EXACT ABBREVIATION [Orphanet:93164]
xref: GARD:19176 {source="MONDO:GARD"}
xref: ICD10CM:N15.8 {source="Orphanet:93164", source="Orphanet:93164/ntbt"}
xref: MEDGEN:900190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93164 {source="MONDO:equivalentTo"}
xref: SCTID:717263009 {source="MONDO:equivalentTo"}
xref: UMLS:C4273962 {source="MEDGEN:900190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018638 {source="MONDO:Redundant", source="Orphanet:93164"} ! pseudohypoaldosteronism
intersection_of: MONDO:0018638 ! pseudohypoaldosteronism
intersection_of: has_characteristic HP:0025153 ! Transient

[Term]
id: MONDO:0019644
name: renal dysplasia, unilateral
def: "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." [Orphanet:93172]
subset: gard_rare {source="GARD:19177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93172"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "unilateral renal dysplasia" EXACT [HP:0008718]
xref: GARD:19177 {source="MONDO:GARD"}
xref: HP:0008718 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q61.4 {source="Orphanet:93172/attributed", source="Orphanet:93172/ntbt", source="Orphanet:93172"}
xref: MEDGEN:140916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93172 {source="MONDO:equivalentTo"}
xref: UMLS:C0431697 {source="MONDO:equivalentTo", source="MEDGEN:140916", source="MONDO:MEDGEN"}
is_a: MONDO:0019638 {source="Orphanet:93172"} ! renal dysplasia

[Term]
id: MONDO:0019645
name: renal dysplasia, bilateral
def: "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." [Orphanet:93173]
subset: gard_rare {source="GARD:19178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93173"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral renal dysplasia" EXACT [HP:0012582]
xref: GARD:19178 {source="MONDO:GARD"}
xref: HP:0012582 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q61.4 {source="Orphanet:93173/attributed", source="Orphanet:93173/ntbt", source="Orphanet:93173"}
xref: MEDGEN:609101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93173 {source="MONDO:equivalentTo"}
xref: SCTID:204950001 {source="MONDO:equivalentTo"}
xref: UMLS:C0431698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609101"}
is_a: MONDO:0019638 {source="Orphanet:93173"} ! renal dysplasia

[Term]
id: MONDO:0019646
name: unilateral congenital megacalycosis
subset: gard_rare {source="GARD:19179", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93176"}
subset: rare
xref: GARD:19179 {source="MONDO:GARD"}
xref: ICD10CM:Q63.8 {source="Orphanet:93176/ntbt", source="Orphanet:93176"}
xref: MEDGEN:1842948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93176 {source="MONDO:equivalentTo"}
xref: UMLS:C5681456 {source="MEDGEN:1842948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019639 {source="Orphanet:93176"} ! congenital megacalycosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019647
name: congenital bilateral megacalycosis
subset: gard_rare {source="GARD:19180", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93177"}
subset: rare
xref: GARD:19180 {source="MONDO:GARD"}
xref: ICD10CM:Q63.8 {source="Orphanet:93177", source="Orphanet:93177/ntbt"}
xref: MEDGEN:1842447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93177 {source="MONDO:equivalentTo"}
xref: UMLS:C5681455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842447"}
is_a: MONDO:0019639 {source="Orphanet:93177"} ! congenital megacalycosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019648
name: achondrogenesis
def: "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." [Orphanet:932]
subset: gard_rare {source="GARD:2882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:710"}
subset: ordo_disorder {source="Orphanet:932"}
subset: orphanet_rare {source="Orphanet:932"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080043 {source="MONDO:equivalentTo"}
xref: GARD:2882 {source="MONDO:GARD"}
xref: ICD10CM:Q77.0 {source="Orphanet:932", source="MONDO:equivalentTo", source="Orphanet:932/specific", source="Orphanet:932/e"}
xref: icd11.foundation:103965243 {source="Orphanet:932", source="MONDO:equivalentTo"}
xref: MedDRA:10066122 {source="Orphanet:932", source="Orphanet:932/e"}
xref: MEDGEN:84 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579878 {source="MONDO:equivalentTo"}
xref: NCIT:C84527 {source="MONDO:equivalentTo"}
xref: NORD:710 {source="MONDO:NORD"}
xref: OMIMPS:200600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:932 {source="MONDO:equivalentTo"}
xref: SCTID:2391001 {source="MONDO:equivalentTo"}
xref: UMLS:C0001079 {source="MEDGEN:84", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="DOID:0080043", source="MESH:C579878"} ! osteochondrodysplasia
is_a: MONDO:0019694 {source="Orphanet:932"} ! spondylodysplastic dysplasia
relationship: disease_has_feature HP:0000774 ! Narrow chest
relationship: disease_has_feature HP:0003510 ! Severe short stature
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:200600"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis" xsd:anyURI {source="GARD:0002882"}

[Term]
id: MONDO:0019649
name: idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:93206"}
subset: rare
synonym: "idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93206]
xref: ICD10CM:N04.1 {source="Orphanet:93206/attributed", source="Orphanet:93206/ntbt", source="Orphanet:93206"}
xref: Orphanet:93206 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019067 {source="Orphanet:93206"} ! idiopathic steroid-sensitive nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019650
name: idiopathic steroid-sensitive nephrotic syndrome with minimal change
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:93207"}
subset: rare
synonym: "steroid-sensitive MCNS" EXACT [Orphanet:93207]
xref: ICD10CM:N04.0 {source="Orphanet:93207", source="Orphanet:93207/attributed", source="Orphanet:93207/ntbt"}
xref: Orphanet:93207 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019067 {source="Orphanet:93207"} ! idiopathic steroid-sensitive nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019651
name: idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:93209"}
subset: rare
xref: ICD10CM:N04.3 {source="Orphanet:93209/attributed", source="Orphanet:93209/ntbt", source="Orphanet:93209"}
xref: Orphanet:93209 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019067 {source="Orphanet:93209"} ! idiopathic steroid-sensitive nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019652
name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:93214"}
subset: rare
xref: ICD10CM:N04.3 {source="Orphanet:93214", source="Orphanet:93214/attributed", source="Orphanet:93214/ntbt"}
xref: Orphanet:93214 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019006 {source="Orphanet:93214"} ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019653
name: familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:93216"}
subset: rare
xref: ICD10CM:N04.0 {source="Orphanet:93216", source="Orphanet:93216/attributed", source="Orphanet:93216/ntbt"}
xref: Orphanet:93216 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019006 {source="Orphanet:93216"} ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019654
name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:93217"}
subset: rare
xref: ICD10CM:N04.8 {source="Orphanet:93217/attributed", source="Orphanet:93217/ntbt", source="Orphanet:93217"}
xref: NANDO:2200111 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:93217 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019006 {source="Orphanet:93217"} ! familial idiopathic steroid-resistant nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019655
name: sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:93218"}
subset: rare
synonym: "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93218]
xref: ICD10CM:N04.1 {source="Orphanet:93218", source="Orphanet:93218/attributed", source="Orphanet:93218/ntbt"}
xref: Orphanet:93218 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019401 {source="Orphanet:93218"} ! sporadic idiopathic steroid-resistant nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019656
name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:93220"}
subset: rare
xref: ICD10CM:N04.8 {source="Orphanet:93220/attributed", source="Orphanet:93220/ntbt", source="Orphanet:93220"}
xref: Orphanet:93220 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019401 {source="Orphanet:93220"} ! sporadic idiopathic steroid-resistant nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019657
name: obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
comment: Obsolete in Orphanet
xref: ICD10CM:N04.0 {source="Orphanet:93221", source="Orphanet:93221/attributed", source="Orphanet:93221/ntbt"}
xref: Orphanet:93221 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0019006

[Term]
id: MONDO:0019658
name: obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
comment: Obsolete in Orphanet
xref: ICD10CM:N04.3 {source="Orphanet:93222/attributed", source="Orphanet:93222/ntbt", source="Orphanet:93222"}
xref: Orphanet:93222 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0019006

[Term]
id: MONDO:0019659
name: Pfeiffer syndrome type 1
def: "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development." [Orphanet:93258]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16807", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93258"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic Pfeiffer syndrome" EXACT [Orphanet:93258]
synonym: "Pfeiffer syndrome type 1" EXACT CLINGEN_LABEL []
xref: GARD:16807 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:93258", source="Orphanet:93258/attributed", source="Orphanet:93258/ntbt"}
xref: MEDGEN:1726699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93258 {source="MONDO:equivalentTo"}
xref: UMLS:C5438812 {source="MEDGEN:1726699", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007043 {source="Orphanet:93258"} ! Pfeiffer syndrome

[Term]
id: MONDO:0019660
name: Pfeiffer syndrome type 2
def: "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." [Orphanet:93259]
subset: gard_rare {source="GARD:16808", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93259"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16808 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:93259", source="Orphanet:93259/attributed", source="Orphanet:93259/ntbt"}
xref: MEDGEN:1761826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93259 {source="MONDO:equivalentTo"}
xref: UMLS:C5438849 {source="MEDGEN:1761826", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007043 {source="Orphanet:93259"} ! Pfeiffer syndrome

[Term]
id: MONDO:0019661
name: Pfeiffer syndrome type 3
def: "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." [Orphanet:93260]
subset: gard_rare {source="GARD:16809", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93260"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16809 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:93260/attributed", source="Orphanet:93260/ntbt", source="Orphanet:93260"}
xref: MEDGEN:1748161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93260 {source="MONDO:equivalentTo"}
xref: UMLS:C5438850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1748161"}
is_a: MONDO:0007043 {source="Orphanet:93260"} ! Pfeiffer syndrome

[Term]
id: MONDO:0019662
name: short rib-polydactyly syndrome, Majewski type
subset: gard_rare {source="GARD:4833", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93269"}
subset: ordo_malformation_syndrome {source="Orphanet:93269"}
subset: orphanet_rare {source="Orphanet:93269"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polydactyly with neonatal chondrodystrophy type 2" RELATED [GARD:0004833]
synonym: "short rib-polydactyly syndrome Majewski type" RELATED [GARD:0004833]
synonym: "short rib-polydactyly syndrome type 2" EXACT [Orphanet:93269]
synonym: "SRPS type 2" RELATED [GARD:0004833]
xref: GARD:4833 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:93269", source="Orphanet:93269/attributed", source="Orphanet:93269/ntbt"}
xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:93269 {source="MONDO:equivalentTo"}
xref: SCTID:72922008 {source="MONDO:equivalentTo"}
is_a: MONDO:0015461 {source="Orphanet:93269"} ! short rib-polydactyly syndrome

[Term]
id: MONDO:0019663
name: obsolete short rib-polydactyly syndrome, Saldino-Noonan type
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1376" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013127

[Term]
id: MONDO:0019664
name: obsolete short rib-polydactyly syndrome, Verma-Naumoff type
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4148" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013127

[Term]
id: MONDO:0019665
name: monostotic fibrous dysplasia
def: "Fibrous dysplasia of bone involving only one bone." [MESH:D005358]
subset: gard_rare {source="GARD:19181", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93277"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Jaffe-Lichtenstein disease" EXACT [Orphanet:93277]
synonym: "monostotic fibrous dysplasia" EXACT [MONDO:ambiguous]
synonym: "monostotic fibrous dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "monostotic fibrous dysplasia of bone" EXACT [NCIT:C53971]
xref: GARD:19181 {source="MONDO:GARD"}
xref: HP:0010736 {source="MONDO:otherHierarchy"}
xref: ICD10CM:M85.0 {source="Orphanet:93277"}
xref: ICD10CM:Q78.1 {source="Orphanet:93277/attributed", source="Orphanet:93277/ntbt", source="MONDO:directSiblingOf"}
xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:42020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005358 {source="Orphanet:93277", source="MONDO:equivalentTo", source="Orphanet:93277/e"}
xref: NCIT:C53971 {source="MONDO:equivalentTo"}
xref: Orphanet:93277 {source="MONDO:equivalentTo"}
xref: SCTID:89859004 {source="MONDO:equivalentTo"}
xref: UMLS:C0016064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42020"}
is_a: MONDO:0000845 {source="MESH:D005358", source="Orphanet:93277"} ! fibrous dysplasia
property_value: IAO:0000589 "monostotic fibrous dysplasia (disease)" xsd:string

[Term]
id: MONDO:0019666
name: spondyloepimetaphyseal dysplasia, PAPSS2 type
def: "A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." [https://orcid.org/0000-0001-5208-3432, Orphanet:93282]
subset: gard_rare {source="GARD:16813", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93282"}
subset: orphanet_rare {source="Orphanet:93282"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BCYM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612847]
synonym: "brachyolmia 4 with mild epiphyseal and metaphyseal changes" EXACT [OMIM:612847, OMIM:genemap2]
synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" RELATED [MONDO:Lexical, OMIM:612847]
synonym: "SEMD, Pakistani type" RELATED [OMIM:612847]
synonym: "spondylodysplasia and premature pubarche" RELATED [OMIM:612847]
synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [DOID:0050812]
synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [OMIM:612847, Orphanet:93282]
xref: DOID:0050812 {source="MONDO:equivalentTo"}
xref: GARD:16813 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93282/attributed", source="Orphanet:93282/ntbt", source="Orphanet:93282"}
xref: MEDGEN:411234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612847 {source="MONDO:equivalentTo", source="Orphanet:93282/ntbt", source="DOID:0050812", source="Orphanet:93282"}
xref: Orphanet:93282 {source="MONDO:equivalentTo", source="OMIM:612847"}
xref: SCTID:719172003 {source="MONDO:equivalentTo"}
xref: UMLS:C2748515 {source="MEDGEN:411234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="DOID:0050812", source="Orphanet:93282", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8604 {source="MONDO:mim2gene_medgen"} ! PAPSS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0019667
name: spondyloepiphyseal dysplasia tarda
def: "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." [Orphanet:93284]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1732"}
subset: ordo_disorder {source="Orphanet:93284"}
subset: orphanet_rare {source="Orphanet:93284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0112284 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q77.7 {source="Orphanet:93284", source="Orphanet:93284/attributed", source="Orphanet:93284/ntbt"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NORD:1732 {source="MONDO:NORD"}
xref: Orphanet:93284 {source="MONDO:equivalentTo"}
xref: SCTID:51952004 {source="MONDO:equivalentTo"}
is_a: MONDO:0016761 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0019668
name: adenoma of pancreas
subset: gard_rare {source="GARD:4204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93292"}
subset: orphanet_rare {source="Orphanet:93292"}
subset: rare
synonym: "adenoma of the pancreas" RELATED [Orphanet:93292]
synonym: "pancreatic adenoma" EXACT [Orphanet:93292]
xref: GARD:4204 {source="MONDO:GARD"}
xref: ICD10CM:D13.6 {source="MONDO:relatedTo", source="Orphanet:93292/ntbt", source="Orphanet:93292"}
xref: MedDRA:10058902 {source="Orphanet:93292/e", source="Orphanet:93292"}
xref: MEDGEN:256157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538110 {source="Orphanet:93292/e", source="MONDO:equivalentTo", source="Orphanet:93292"}
xref: Orphanet:93292 {source="MONDO:equivalentTo"}
xref: SCTID:208061000119101 {source="MONDO:equivalentTo"}
xref: UMLS:C1142432 {source="MEDGEN:256157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="https://orcid.org/0000-0003-3296-5766"} ! adenoma
is_a: MONDO:0021040 {source="Orphanet:93292"} ! pancreatic neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621", source="MONDO:0015882"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6414" xsd:anyURI

[Term]
id: MONDO:0019669
name: hypochondrogenesis
subset: gard_rare {source="GARD:16815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93297"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080044 {source="MONDO:equivalentTo"}
xref: GARD:16815 {source="MONDO:GARD"}
xref: ICD10CM:Q77.0 {source="Orphanet:93297/ntbt", source="Orphanet:93297", source="Orphanet:93297/inclusion"}
xref: icd11.foundation:1494246635 {source="Orphanet:93297", source="MONDO:equivalentTo"}
xref: MEDGEN:107448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563007 {source="MONDO:equivalentTo"}
xref: NANDO:2201346 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:93297 {source="MONDO:equivalentTo"}
xref: UMLS:C0542428 {source="MEDGEN:107448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019648 {source="Orphanet:93297"} ! achondrogenesis
is_a: MONDO:0022800 {source="Orphanet:93297"} ! type 2 collagenopathy
relationship: disease_has_feature HP:0001789 ! Hydrops fetalis

[Term]
id: MONDO:0019670
name: ulnar hemimelia
def: "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." [Orphanet:93320]
subset: gard_rare {source="GARD:19182", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93320"}
subset: ordo_morphological_anomaly {source="Orphanet:93320"}
subset: orphanet_rare {source="Orphanet:93320"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital longitudinal deficiency of the ulna" EXACT [Orphanet:93320]
synonym: "ulnar clubhand" EXACT [Orphanet:93320]
synonym: "ulnar longitudinal meromelia" EXACT [Orphanet:93320]
xref: GARD:19182 {source="MONDO:GARD"}
xref: ICD10CM:Q71.5 {source="Orphanet:93320", source="Orphanet:93320/e", source="Orphanet:93320/specific"}
xref: icd11.foundation:1136383237 {source="Orphanet:93320", source="MONDO:equivalentTo"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93320 {source="MONDO:equivalentTo"}
xref: SCTID:21893008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539346"}
is_a: MONDO:0016240 {source="Orphanet:93320"} ! hemimelia

[Term]
id: MONDO:0019671
name: radial hemimelia
def: "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." [Orphanet:93321]
subset: gard_rare {source="GARD:225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93321"}
subset: ordo_morphological_anomaly {source="Orphanet:93321"}
subset: orphanet_rare {source="Orphanet:93321"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital longitudinal deficiency of the radius" EXACT [Orphanet:93321]
synonym: "radial clubhand" EXACT [Orphanet:93321]
synonym: "radial longitidinal meromelia" EXACT [Orphanet:93321]
synonym: "radial ray agenesis" EXACT [Orphanet:93321]
xref: GARD:225 {source="MONDO:GARD"}
xref: ICD10CM:Q71.4 {source="Orphanet:93321", source="Orphanet:93321/specific", source="Orphanet:93321/e"}
xref: icd11.foundation:653269137 {source="Orphanet:93321", source="MONDO:equivalentTo"}
xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93321 {source="MONDO:equivalentTo"}
xref: SCTID:48008009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539344"}
is_a: MONDO:0016240 {source="Orphanet:93321"} ! hemimelia

[Term]
id: MONDO:0019672
name: fibular hemimelia
def: "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." [Orphanet:93323]
subset: gard_rare {source="GARD:8659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93323"}
subset: ordo_morphological_anomaly {source="Orphanet:93323"}
subset: orphanet_rare {source="Orphanet:93323"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital longitudinal deficiency of the fibula" EXACT [Orphanet:93323]
synonym: "fibular longitudinal meromelia" EXACT [Orphanet:93323]
xref: GARD:8659 {source="MONDO:GARD"}
xref: ICD10CM:Q72.6 {source="Orphanet:93323", source="Orphanet:93323/specific", source="Orphanet:93323/e"}
xref: icd11.foundation:915482054 {source="MONDO:equivalentTo", source="Orphanet:93323"}
xref: MEDGEN:539380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93323 {source="MONDO:equivalentTo"}
xref: UMLS:C0265634 {source="MEDGEN:539380", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016240 {source="Orphanet:93323"} ! hemimelia

[Term]
id: MONDO:0019673
name: postaxial polydactyly type A
subset: gard_rare {source="GARD:16817", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93334"}
subset: ordo_morphological_anomaly {source="Orphanet:93334"}
subset: orphanet_rare {source="Orphanet:93334"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PAPA" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "postaxial polydactyly type A" EXACT [MONDO:ambiguous]
synonym: "postaxial polydactyly type A (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:16817 {source="MONDO:GARD"}
xref: HP:0005696 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q69.0 {source="Orphanet:93334", source="Orphanet:93334/attributed", source="Orphanet:93334/ntbt"}
xref: MEDGEN:854350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93334 {source="MONDO:equivalentTo"}
xref: SCTID:715704001 {source="MONDO:equivalentTo"}
xref: UMLS:C3887487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854350"}
is_a: MONDO:0020927 {source="https://orcid.org/0000-0001-5208-3432"} ! postaxial polydactyly
relationship: excluded_subClassOf MONDO:0017426 {source="Orphanet:93334", source="https://orcid.org/0000-0001-5208-3432"} ! postaxial polydactyly of fingers
property_value: IAO:0000589 "postaxial polydactyly type A (disease)" xsd:string

[Term]
id: MONDO:0019674
name: postaxial polydactyly type B
subset: gard_rare {source="GARD:16818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93335"}
subset: ordo_morphological_anomaly {source="Orphanet:93335"}
subset: orphanet_rare {source="Orphanet:93335"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PAPB" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165, OMIM:174200]
xref: GARD:16818 {source="MONDO:GARD"}
xref: ICD10CM:Q69.0 {source="Orphanet:93335", source="Orphanet:93335/attributed", source="Orphanet:93335/ntbt"}
xref: MEDGEN:357425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:174200 {source="Orphanet:93335", source="MONDO:includedEntryInOMIM", source="Orphanet:93335/ntbt"}
xref: Orphanet:93335 {source="MONDO:equivalentTo"}
xref: SCTID:715707008 {source="MONDO:equivalentTo"}
xref: UMLS:C1868120 {source="MEDGEN:357425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020927 {source="https://orcid.org/0000-0001-5208-3432"} ! postaxial polydactyly
relationship: excluded_subClassOf MONDO:0017426 {source="Orphanet:93335", source="https://orcid.org/0000-0001-5208-3432"} ! postaxial polydactyly of fingers
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0019675
name: spondyloepimetaphyseal dysplasia with joint laxity
def: "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." [PMID:12784311]
subset: gard_rare {source="GARD:4982", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMD-JL" EXACT [Orphanet:93359]
synonym: "SEMDJL" EXACT ABBREVIATION [GARD:0004982]
synonym: "SEMDJL1" NARROW ABBREVIATION [Orphanet:93359]
synonym: "spondyloepimetaphyseal dysplasia joint laxity" RELATED [GARD:0004982]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity" EXACT [GARD:0004982]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" NARROW [Orphanet:93359]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" NARROW [Orphanet:93359]
xref: DOID:0112197 {source="MONDO:equivalentTo"}
xref: GARD:4982 {source="MONDO:GARD"}
xref: ICD10CM:Q77.7 {source="Orphanet:93359", source="Orphanet:93359/attributed", source="Orphanet:93359/ntbt"}
xref: ICD9:719.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562968 {source="MONDO:equivalentTo"}
xref: OMIMPS:271640 {source="MONDO:equivalentTo"}
xref: Orphanet:93359 {source="GARD:0004982", source="MONDO:equivalentTo", source="DOID:0112197"}
xref: SCTID:254100000 {source="MONDO:equivalentTo"}
xref: UMLS:C0432243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98148"}
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="DOID:0112197", source="Orphanet:93359", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia
relationship: excluded_subClassOf MONDO:0017742 {source="Orphanet:93359", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of O-xylosylglycan synthesis
relationship: excluded_subClassOf MONDO:0018292 {source="Orphanet:93359", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital disorder of glycosylation-related bone disorder
relationship: excluded_subClassOf MONDO:0018293 {source="Orphanet:93359", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital disorder of glycosylation with skin involvement
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:271640"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0019676
name: brachydactyly type B
def: "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons." [GARD:0000985]
subset: gard_rare {source="GARD:985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93383"}
subset: ordo_malformation_syndrome {source="Orphanet:93383"}
subset: orphanet_rare {source="Orphanet:93383"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:985 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:93383", source="Orphanet:93383/attributed", source="Orphanet:93383/ntbt"}
xref: MEDGEN:722046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93383 {source="MONDO:equivalentTo"}
xref: SCTID:389168002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"}
xref: UMLS:C1300267 {source="MEDGEN:722046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3709" xsd:anyURI

[Term]
id: MONDO:0019677
name: brachydactyly type E
def: "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." [Orphanet:93387]
subset: gard_rare {source="GARD:987", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93387"}
subset: ordo_malformation_syndrome {source="Orphanet:93387"}
subset: orphanet_rare {source="Orphanet:93387"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "type E brachydactyly" RELATED [GARD:0000987]
xref: GARD:987 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:93387/attributed", source="Orphanet:93387/ntbt", source="Orphanet:93387"}
xref: MEDGEN:939359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93387 {source="MONDO:equivalentTo"}
xref: UMLS:C4315392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:939359"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly

[Term]
id: MONDO:0019678
name: brachydactyly type A5
def: "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb." [Orphanet:93389]
subset: gard_rare {source="GARD:982", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_malformation_syndrome {source="Orphanet:93389"}
subset: rare
synonym: "absent middle phalanges of digits 2-5 with nail dysplasia" RELATED [GARD:0000982]
synonym: "brachydactyly type A5 nail dysplasia" RELATED [GARD:0000982]
synonym: "brachydactyly with absence of middle phalanges and hypoplastic nails" RELATED [GARD:0000982]
xref: GARD:982 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:93389", source="Orphanet:93389/attributed", source="Orphanet:93389/ntbt"}
xref: MEDGEN:929661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537091 {source="MONDO:equivalentTo"}
xref: OMIM:112900 {source="MONDO:equivalentObsolete", source="GARD:0000982"}
xref: Orphanet:93389 {source="MONDO:equivalentObsolete"}
xref: SCTID:720570007 {source="MONDO:equivalentTo"}
xref: UMLS:C4303992 {source="MONDO:equivalentTo", source="MEDGEN:929661", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5" xsd:anyURI {source="GARD:0000982"}

[Term]
id: MONDO:0019679
name: brachydactyly type A7
def: "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features." [Orphanet:93397]
subset: gard_rare {source="GARD:984", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93397"}
subset: ordo_malformation_syndrome {source="Orphanet:93397"}
subset: orphanet_rare {source="Orphanet:93397"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brachydactyly Smorgasbord type" RELATED [GARD:0000984]
synonym: "brachydactyly, Smorgasbord type" EXACT [Orphanet:93397]
xref: GARD:984 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:93397", source="Orphanet:93397/attributed", source="Orphanet:93397/ntbt"}
xref: MEDGEN:929660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93397 {source="MONDO:equivalentTo"}
xref: SCTID:720571006 {source="MONDO:equivalentTo"}
xref: UMLS:C4303991 {source="MEDGEN:929660", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7" xsd:anyURI {source="GARD:0000984"}

[Term]
id: MONDO:0019680
name: genochondromatosis type 2
def: "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." [Orphanet:93398]
subset: gard_rare {source="GARD:16820", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93398"}
subset: orphanet_rare {source="Orphanet:93398"}
subset: rare
xref: GARD:16820 {source="MONDO:GARD"}
xref: MEDGEN:1374044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93398 {source="MONDO:equivalentTo"}
xref: SCTID:725904009 {source="MONDO:equivalentTo"}
xref: UMLS:C4511481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1374044"}
is_a: MONDO:0007653 {source="https://orcid.org/0000-0001-5208-3432"} ! genochondromatosis
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:93398", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components

[Term]
id: MONDO:0019681
name: juvenile sialidosis type 2
subset: gard_rare {source="GARD:19183", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93399"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysmorphic sialidosis, juvenile form" EXACT []
xref: GARD:19183 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:93399/attributed", source="Orphanet:93399/ntbt", source="Orphanet:93399"}
xref: MEDGEN:1825999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93399 {source="MONDO:equivalentTo"}
xref: SCTID:111383007 {source="MONDO:equivalentTo"}
xref: UMLS:C5681598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825999"}
is_a: MONDO:0009738 {source="Orphanet:93399"} ! sialidosis type 2

[Term]
id: MONDO:0019682
name: congenital sialidosis type 2
subset: gard_rare {source="GARD:19184", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93400"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19184 {source="MONDO:GARD"}
xref: ICD10CM:E77.1 {source="Orphanet:93400", source="Orphanet:93400/attributed", source="Orphanet:93400/ntbt"}
xref: MEDGEN:1843300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93400 {source="MONDO:equivalentTo"}
xref: UMLS:C5681599 {source="MONDO:equivalentTo", source="MEDGEN:1843300", source="MONDO:MEDGEN"}
is_a: MONDO:0009738 {source="Orphanet:93400"} ! sialidosis type 2

[Term]
id: MONDO:0019683
name: obsolete syndactyly type 2
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3919" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021651

[Term]
id: MONDO:0019684
name: obsolete rare bone disease
def: "OBSOLETE. Rare bone disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93419"}
synonym: "rare bone disease" EXACT [MONDO:patterns/rare]
xref: GARD:22511 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93419 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005381

[Term]
id: MONDO:0019685
name: FGFR3-related chondrodysplasia
subset: disease_grouping
subset: gard_rare {source="GARD:19185", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:93420"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19185 {source="MONDO:GARD"}
xref: MEDGEN:1842866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93420 {source="MONDO:equivalentTo"}
xref: UMLS:C5681604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842866"}
is_a: MONDO:0005381 {source="Orphanet:93420"} ! bone disorder
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019686
name: obsolete type 2 collagen-related bone disorder
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3698" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022800

[Term]
id: MONDO:0019687
name: obsolete type 11 collagen-related bone disorder
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3575" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800087

[Term]
id: MONDO:0019688
name: obsolete sulfation-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:93423"}
subset: otar {source="MONDO:OTAR"}
synonym: "inborn error of sulphation" EXACT [MONDO:patterns/inborn_metabolic_disrupts]
synonym: "sulphation disorder" EXACT [PMID:31633310]
xref: GARD:19188 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93423 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019689
name: obsolete perlecan-related bone disorder
xref: GARD:19189 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93424 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019690
name: filamin-related bone disorder
subset: disease_grouping
subset: gard_rare {source="GARD:19190", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93425"}
subset: rare
synonym: "bone filaminopathy" EXACT [Orphanet:93425]
xref: GARD:19190 {source="MONDO:GARD"}
xref: MEDGEN:1842239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93425 {source="MONDO:equivalentTo"}
xref: UMLS:C5680280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842239"}
is_a: MONDO:0005381 {source="Orphanet:93425"} ! bone disorder
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019691
name: short rib dysplasia
subset: disease_grouping
subset: gard_rare {source="GARD:16822", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93426"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ciliopathies with major skeletal involvement" RELATED [Orphanet:93426]
synonym: "short-rib dysplasia (with or without polydactyly)" EXACT [Orphanet:93426]
synonym: "SRP" EXACT ABBREVIATION [Orphanet:93426]
xref: GARD:16822 {source="MONDO:GARD"}
xref: ICD10CM:Q77.2 {source="Orphanet:93426/e", source="Orphanet:93426/specific", source="Orphanet:93426"}
xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:609403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93426 {source="MONDO:equivalentTo"}
xref: SCTID:254050009 {source="MONDO:equivalentTo"}
xref: UMLS:C0432195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609403"}
is_a: MONDO:0018230 {source="Orphanet:93426", source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019692
name: obsolete multiple epiphyseal dysplasia and pseudoachondroplasia
subset: ordo_group_of_disorders {source="Orphanet:93429"}
xref: GARD:19191 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q78.8 {source="Orphanet:93429/attributed", source="Orphanet:93429/ntbt", source="Orphanet:93429"}
xref: icd11.foundation:2078345611 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:93429"}
xref: Orphanet:93429 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019693
name: obsolete multiple metaphyseal dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93430"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19192 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q78.5 {source="Orphanet:93430", source="Orphanet:93430/attributed", source="Orphanet:93430/ntbt"}
xref: icd11.foundation:717143930 {source="Orphanet:93430", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:93430 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019694
name: spondylodysplastic dysplasia
subset: disease_grouping
subset: gard_rare {source="GARD:19193", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93434"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19193 {source="MONDO:GARD"}
xref: icd11.foundation:329165933 {source="MONDO:equivalentTo", source="Orphanet:93434", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1843363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93434 {source="MONDO:equivalentTo"}
xref: UMLS:C4736216 {source="MEDGEN:1843363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="Orphanet:93434"} ! skeletal dysplasia

[Term]
id: MONDO:0019695
name: acromelic dysplasia
subset: disease_grouping
subset: gard_rare {source="GARD:19194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:93436"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19194 {source="MONDO:GARD"}
xref: ICD10CM:Q74.8 {source="Orphanet:93436", source="Orphanet:93436/attributed", source="Orphanet:93436/ntbt"}
xref: icd11.foundation:177141175 {source="MONDO:equivalentTo", source="Orphanet:93436", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1843369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93436 {source="MONDO:equivalentTo"}
xref: UMLS:C4736195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843369"}
is_a: MONDO:0018230 {source="Orphanet:93436", source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019696
name: acromesomelic dysplasia
def: "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" [GARD:0000006, https://orcid.org/0000-0001-5208-3432]
subset: disease_grouping
subset: gard_rare {source="GARD:6", source="MONDO:GARD"}
subset: nord_rare {source="NORD:724", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:93437"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acromesomelic dwarfism" RELATED [GARD:0000006]
xref: DOID:0080049 {source="MONDO:equivalentTo"}
xref: GARD:6 {source="MONDO:GARD"}
xref: icd11.foundation:2002361676 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:93437"}
xref: MEDGEN:1710812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535658 {source="Orphanet:93437/e", source="MONDO:equivalentTo", source="Orphanet:93437"}
xref: NORD:724 {source="MONDO:NORD"}
xref: OMIMPS:602875 {source="MONDO:equivalentTo"}
xref: Orphanet:93437 {source="GARD:0000006", source="MONDO:equivalentTo"}
xref: UMLS:C5235036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710812"}
is_a: MONDO:0005516 {source="DOID:0080049", source="MESH:C535658"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="Orphanet:93437", source="PMID:31633310"} ! skeletal dysplasia
relationship: disease_has_feature HP:0003027 ! Mesomelia
relationship: disease_has_feature HP:0010884 ! Acromelia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:602875"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019697
name: obsolete mesomelic and rhizo-mesomelic dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93438"}
xref: GARD:19195 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:533702276 {source="MONDO:obsoleteEquivalent", source="Orphanet:93438", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:93438 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019698
name: bent bone dysplasia
subset: disease_grouping
subset: gard_rare {source="GARD:19196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:93439"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "campomelic dysplasia and related disorders" RELATED [Orphanet:93439]
xref: GARD:19196 {source="MONDO:GARD"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:609415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93439 {source="MONDO:equivalentTo"}
xref: SCTID:254095002 {source="MONDO:equivalentTo"}
xref: UMLS:C0432238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609415"}
is_a: MONDO:0018230 {source="Orphanet:93439", source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019699
name: obsolete slender bone dysplasia
subset: ordo_group_of_disorders {source="Orphanet:93440"}
xref: GARD:19197 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:691657602 {source="Orphanet:93440", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:93440 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019700
name: obsolete primary bone dysplasia with multiple joint dislocations
comment: This term was reinstated as a new class, see MONDO:0800086.
synonym: "primary osteodysplasia with multiple joint dislocations" RELATED [Orphanet:93441]
synonym: "primary skeletal dysplasia with multiple joint dislocations" RELATED [Orphanet:93441]
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800086

[Term]
id: MONDO:0019701
name: chondrodysplasia punctata
def: "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." [NCIT:P378]
subset: disease_grouping
subset: gard_rare {source="GARD:8542", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:93442"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDP" EXACT ABBREVIATION [Orphanet:93442]
synonym: "chondrodysplasia calcificans congenita" EXACT [DOID:2581]
synonym: "chondrodysplasia punctata (stippled epiphyses) Group" EXACT [NCIT:C84632]
synonym: "chondrodysplasia punctata congenita" EXACT [DOID:2581]
xref: DOID:2581 {source="MONDO:equivalentTo"}
xref: GARD:8542 {source="MONDO:GARD"}
xref: ICD10CM:Q77.3 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/specific", source="Orphanet:93442/e", source="DOID:2581"}
xref: icd11.foundation:1923035846 {source="Orphanet:93442", source="MONDO:equivalentTo"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:3052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002806 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/e", source="DOID:2581"}
xref: NANDO:2201017 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84632 {source="MONDO:equivalentTo", source="DOID:2581"}
xref: Orphanet:93442 {source="MONDO:equivalentTo"}
xref: SCTID:205486004 {source="DOID:2581"}
xref: SCTID:22932004 {source="DOID:2581"}
xref: SCTID:278715001 {source="DOID:2581"}
xref: SCTID:360507004 {source="MONDO:equivalentTo", source="DOID:2581"}
xref: SCTID:42778005 {source="DOID:2581"}
xref: UMLS:C0008445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3052"}
is_a: MONDO:0018230 {source="Orphanet:93442", source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019702
name: neonatal osteosclerotic dysplasia
subset: disease_grouping
subset: gard_rare {source="GARD:19199", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93443"}
subset: rare
xref: GARD:19199 {source="MONDO:GARD"}
xref: MEDGEN:721998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93443 {source="MONDO:equivalentTo"}
xref: SCTID:389236000 {source="MONDO:equivalentTo"}
xref: UMLS:C1300205 {source="MEDGEN:721998", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 ! osteochondrodysplasia
is_a: MONDO:0018230 {source="Orphanet:93443", source="PMID:31633310"} ! skeletal dysplasia
relationship: disease_has_feature HP:0011001 {source="Orphanet:93443"} ! Increased bone mineral density
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:93443", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019703
name: obsolete primary bone dysplasia with increased bone density
synonym: "primary osteodysplasia with increased bone density" RELATED [Orphanet:93444]
synonym: "primary skeletal dysplasia with increased bone density" RELATED [Orphanet:93444]
synonym: "sclerosing bone dysplasia" RELATED [Orphanet:93444]
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800084

[Term]
id: MONDO:0019704
name: obsolete primary bone dysplasia with decreased bone density
comment: Reason: out of scope. Term to consider: MONDO:0018230.
subset: ordo_group_of_disorders {source="Orphanet:93446"}
synonym: "primary osteodysplasia with decreased bone density" EXACT [Orphanet:93446]
synonym: "primary skeletal dysplasia with decreased bone density" EXACT [Orphanet:93446]
xref: GARD:19201 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93446 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI
is_obsolete: true
consider: MONDO:0018230

[Term]
id: MONDO:0019705
name: obsolete primary bone dysplasia with defective bone mineralization
comment: Reason: out of scope. Term to consider: MONDO:0018230.
subset: ordo_group_of_disorders {source="Orphanet:93447"}
synonym: "primary osteodysplasia with defective bone mineralization" EXACT [Orphanet:93447]
synonym: "primary skeletal dysplasia with defective bone mineralization" EXACT [Orphanet:93447]
xref: GARD:19202 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93447 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI
is_obsolete: true
consider: MONDO:0018230

[Term]
id: MONDO:0019706
name: obsolete lysosomal storage disease with skeletal involvement
comment: This term was reinstated as a new class. See MONDO:0800088.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800088

[Term]
id: MONDO:0019707
name: primary osteolysis
subset: disease_grouping
subset: gard_rare {source="GARD:19204", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93449"}
subset: rare
xref: GARD:19204 {source="MONDO:GARD"}
xref: MEDGEN:1843089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93449 {source="MONDO:equivalentTo"}
xref: UMLS:C5559806 {source="MEDGEN:1843089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="Orphanet:93449", source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0019708
name: obsolete primary bone dysplasia with disorganized development of skeletal components
comment: This term was reinstated as a new class. See MONDO:0800089.
synonym: "primary osteodysplasia with disorganized development of skeletal components" RELATED [Orphanet:93450]
synonym: "primary skeletal dysplasia with disorganized development of skeletal components" RELATED [Orphanet:93450]
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800089

[Term]
id: MONDO:0019709
name: obsolete cleidocranial dysplasia and isolated cranial ossification defect
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93451"}
xref: GARD:19206 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93451 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0019710
name: obsolete dysostosis with predominant craniofacial involvement
subset: disease_grouping
is_obsolete: true
replaced_by: MONDO:0800085

[Term]
id: MONDO:0019711
name: obsolete dysostosis with predominant vertebral and costal involvement
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93454"}
xref: GARD:19208 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:395969787 {source="MONDO:obsoleteEquivalent", source="Orphanet:93454", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:93454 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0019712
name: obsolete patellar dysostosis
subset: ordo_group_of_disorders {source="Orphanet:93455"}
xref: GARD:19209 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93455 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019713
name: non-syndromic limb reduction defect
comment: This term was considered for obsoletion in the mass obsoletion effort but it should not be obsoleted.
subset: disease_grouping
subset: gard_rare {source="GARD:19210", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93457"}
subset: rare
synonym: "isolated limb reduction defect" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "non-syndromic limb hypoplasia" EXACT [Orphanet:93457]
synonym: "nonsyndromic limb reduction defect" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19210 {source="MONDO:GARD"}
xref: ICD10CM:Q71.0 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q71.1 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q71.2 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q71.3 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q71.4 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q71.5 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q71.6 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q71.8 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q71.9 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.0 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.1 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.2 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.3 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.4 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.5 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.6 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.7 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.8 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q72.9 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q73.0 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q73.1 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: ICD10CM:Q73.8 {source="Orphanet:93457/specific", source="Orphanet:93457", source="Orphanet:93457/btnt"}
xref: MEDGEN:1842256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93457 {source="MONDO:equivalentTo"}
xref: UMLS:C5680277 {source="MEDGEN:1842256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114#issuecomment-1727925308" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0019714
name: obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy
subset: ordo_group_of_disorders {source="Orphanet:93458"}
synonym: "isolated polydactyly, syndactyly and/or hyperphalangy" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19211 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93458 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019715
name: obsolete syndrome with synostosis or other joint formation defect
comment: This term was reinstated as a new class. See MONDO:0800095.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800095

[Term]
id: MONDO:0019716
name: overgrowth syndrome
def: "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." [NCIT:C94828]
subset: disease_grouping
subset: gard_rare {source="GARD:19213", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93460"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19213 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:93460", source="Orphanet:93460/e", source="Orphanet:93460/specific"}
xref: icd11.foundation:2113355045 {source="Orphanet:93460", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:458929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C94828 {source="MONDO:equivalentTo"}
xref: Orphanet:93460 {source="MONDO:equivalentTo"}
xref: UMLS:C2986703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:458929"}
is_a: MONDO:0021147 {source="Orphanet:93460", source="Orphanet:93460/inferred"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0001548 ! Overgrowth
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0019717
name: obsolete chromosomal disease with overgrowth
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: chromosomal disorder'
subset: ordo_group_of_disorders {source="Orphanet:93461"}
xref: GARD:19214 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93461 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019040

[Term]
id: MONDO:0019718
name: obsolete lethal chondrodysplasia
subset: ordo_group_of_disorders {source="Orphanet:93465"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19215 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93465 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019719
name: congenital anomaly of kidney and urinary tract
def: "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." [DOID:0080205, PMID:25313840]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19216", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93545"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAKUT" EXACT ABBREVIATION [Orphanet:93545]
synonym: "congenital anomalies of kidney and urinary tract" EXACT [Orphanet:93545]
synonym: "congenital anomalies of the kidney and urinary tract" EXACT [DOID:0080205]
synonym: "congenital anomaly of kidney and urinary tract" EXACT CLINGEN_LABEL []
synonym: "renal or urinary tract malformation" EXACT [DOID:0080205]
xref: DOID:0080205 {source="MONDO:equivalentTo"}
xref: GARD:19216 {source="MONDO:GARD"}
xref: ICD10CM:Q60-Q64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:369894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566906 {source="MONDO:equivalentTo"}
xref: OMIMPS:610805 {source="MONDO:equivalentTo", source="DOID:0080205", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:93545 {source="MONDO:equivalentTo", source="DOID:0080205"}
xref: UMLS:C1968949 {source="MEDGEN:369894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002118 {source="DOID:0080205", source="MESH:C566906/inferred"} ! urinary system disorder
is_a: MONDO:0005240 {source="Orphanet:93545"} ! kidney disorder
is_a: MONDO:0019755 {source="Orphanet:93545"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019750"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610805"} ! inherited

[Term]
id: MONDO:0019720
name: obsolete non-syndromic renal or urinary tract malformation
def: "OBSOLETE. A renal or urinary tract malformation that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: ordo_group_of_disorders {source="Orphanet:93546"}
subset: otar {source="MONDO:OTAR"}
synonym: "isolated congenital anomaly of kidney and urinary tract" EXACT []
synonym: "isolated renal or urinary tract malformation" RELATED [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/isolated]
synonym: "nonsyndromic renal or urinary tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated]
xref: GARD:19217 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:357506 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:93546 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93546", source="https://orcid.org/0000-0001-5208-3432"} ! congenital anomaly of kidney and urinary tract
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019721
name: obsolete syndromic renal or urinary tract malformation
def: "OBSOLETE. A renal or urinary tract malformation that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:93547"}
synonym: "syndrome associated with congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic renal or urinary tract malformation" EXACT [MONDO:patterns/syndromic]
xref: GARD:19218 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93547 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93547", source="https://orcid.org/0000-0001-5208-3432"} ! congenital anomaly of kidney and urinary tract
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0019356

[Term]
id: MONDO:0019722
name: glomerular disorder
def: "A disease involving the renal glomerulus." [MONDO:patterns/location_top]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93548"}
subset: otar {source="MONDO:OTAR"}
synonym: "disease of renal glomerulus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of renal glomerulus" EXACT []
synonym: "disorder of renal glomerulus" EXACT [MONDO:patterns/location_top]
synonym: "glomerulopathies" RELATED [GTR:AN0966176]
synonym: "glomerulopathy" EXACT [MONDO:patterns/location]
synonym: "renal glomerulus disease" EXACT [MONDO:patterns/location]
synonym: "renal glomerulus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1002049 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GTR:AN0966176
xref: ICD10CM:N00-N08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: NCIT:C120887 {source="MONDO:equivalentTo"}
xref: Orphanet:93548 {source="MONDO:equivalentTo"}
xref: SCTID:197679002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="NCIT:C120887/inferred", source="Orphanet:93548"} ! kidney disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000074 ! renal glomerulus
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019750"} ! rare

[Term]
id: MONDO:0019723
name: obsolete disease of glomerular basement membrane
subset: otar {source="MONDO:OTAR"}
synonym: "basement membrane disease" BROAD [Orphanet:93550]
xref: Orphanet:93550 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019724
name: obsolete secondary glomerular disease
def: "OBSOLETE. Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established." [https://doi.org/10.1016/j.mpmed.2007.06.008]
xref: Orphanet:93551 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019725
name: pediatric systemic lupus erythematosus
subset: gard_rare {source="GARD:19219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93552"}
subset: orphanet_rare {source="Orphanet:93552"}
subset: rare
synonym: "SLE, paediatric onset" EXACT OMO:0003005 []
synonym: "SLE, pediatric onset" EXACT [Orphanet:93552]
xref: GARD:19219 {source="MONDO:GARD"}
xref: ICD10CM:M32.0 {source="Orphanet:93552/ntbt", source="Orphanet:93552"}
xref: ICD10CM:M32.1 {source="Orphanet:93552/ntbt", source="Orphanet:93552"}
xref: ICD10CM:M32.8 {source="Orphanet:93552/ntbt", source="Orphanet:93552"}
xref: ICD10CM:M32.9 {source="Orphanet:93552/ntbt", source="Orphanet:93552"}
xref: MEDGEN:698153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93552 {source="MONDO:equivalentTo"}
xref: UMLS:C1274834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:698153"}
is_a: MONDO:0007915 {source="https://orcid.org/0000-0001-5208-3432"} ! systemic lupus erythematosus
intersection_of: MONDO:0007915 ! systemic lupus erythematosus
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_subClassOf MONDO:0015657 {source="Orphanet:93552", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inflammatory and autoimmune disease with epilepsy
relationship: excluded_subClassOf MONDO:0017021 {source="Orphanet:93552", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease
relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:93552", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:93552", source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic microangiopathy

[Term]
id: MONDO:0019726
name: type II mixed cryoglobulinemia
def: "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." [Orphanet:93554]
subset: gard_rare {source="GARD:19220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93554"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93554"}
subset: rare
synonym: "MC type II" EXACT [Orphanet:93554]
xref: GARD:19220 {source="MONDO:GARD"}
xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:93554", source="Orphanet:93554/ntbt"}
xref: MEDGEN:1842376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93554 {source="MONDO:equivalentTo"}
xref: UMLS:C5680264 {source="MONDO:equivalentTo", source="MEDGEN:1842376", source="MONDO:MEDGEN"}
is_a: MONDO:0007407 {source="Orphanet:93554"} ! Cryoglobulinemic vasculitis

[Term]
id: MONDO:0019727
name: mixed cryoglobulinemia type III
def: "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." [Orphanet:93555]
subset: gard_rare {source="GARD:19221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93555"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93555"}
subset: rare
synonym: "MC type III" EXACT [Orphanet:93555]
xref: GARD:19221 {source="MONDO:GARD"}
xref: ICD10CM:D89.1 {source="MONDO:relatedTo", source="Orphanet:93555", source="Orphanet:93555/ntbt"}
xref: MEDGEN:1843066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93555 {source="MONDO:equivalentTo"}
xref: UMLS:C5680263 {source="MEDGEN:1843066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007407 {source="Orphanet:93555"} ! Cryoglobulinemic vasculitis

[Term]
id: MONDO:0019728
name: heavy chain deposition disease
subset: gard_rare {source="GARD:19222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93556"}
subset: rare
synonym: "HCDD" EXACT ABBREVIATION [Orphanet:93556]
xref: GARD:19222 {source="MONDO:GARD"}
xref: ICD10CM:D89.8 {source="Orphanet:93556", source="Orphanet:93556/ntbt"}
xref: icd11.foundation:2018948190 {source="MONDO:equivalentTo", source="Orphanet:93556"}
xref: MEDGEN:232591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7339 {source="MONDO:equivalentTo"}
xref: Orphanet:93556 {source="MONDO:equivalentTo"}
xref: UMLS:C1333947 {source="MEDGEN:232591", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019463 {source="Orphanet:93556"} ! non-amyloid monoclonal immunoglobulin deposition disease

[Term]
id: MONDO:0019729
name: light and heavy chain deposition disease
subset: gard_rare {source="GARD:19223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93557"}
subset: rare
synonym: "LHCDD" EXACT ABBREVIATION [Orphanet:93557]
xref: GARD:19223 {source="MONDO:GARD"}
xref: ICD10CM:D89.8 {source="Orphanet:93557", source="Orphanet:93557/ntbt"}
xref: icd11.foundation:1815409370 {source="MONDO:equivalentTo", source="Orphanet:93557"}
xref: MEDGEN:1684811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C158965 {source="MONDO:equivalentTo"}
xref: Orphanet:93557 {source="MONDO:equivalentTo"}
xref: UMLS:C5204117 {source="MEDGEN:1684811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019463 {source="Orphanet:93557"} ! non-amyloid monoclonal immunoglobulin deposition disease

[Term]
id: MONDO:0019730
name: light chain deposition disease
def: "Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases." [https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease]
subset: gard_rare {source="GARD:6906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93558"}
subset: rare
synonym: "Bence Jones myeloma" EXACT [NCIT:C7727]
synonym: "LCDD" EXACT ABBREVIATION [Orphanet:93558]
synonym: "Light chain disease" EXACT [NCIT:C7727]
synonym: "Light chain gammopathy" EXACT [NCIT:C7727]
synonym: "Light-chain deposition disease" RELATED [GARD:0006906]
xref: GARD:6906 {source="MONDO:GARD"}
xref: ICD10CM:D89.8 {source="Orphanet:93558/ntbt", source="Orphanet:93558"}
xref: icd11.foundation:1612001446 {source="MONDO:equivalentTo", source="Orphanet:93558"}
xref: MEDGEN:65953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7727 {source="MONDO:equivalentTo"}
xref: Orphanet:93558 {source="MONDO:equivalentTo"}
xref: SCTID:373604002 {source="MONDO:equivalentTo"}
xref: UMLS:C0238239 {source="MEDGEN:65953", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019463 {source="Orphanet:93558"} ! non-amyloid monoclonal immunoglobulin deposition disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease" xsd:anyURI {source="GARD:0006906"}

[Term]
id: MONDO:0019731
name: AApoAI amyloidosis
subset: gard_rare {source="GARD:19224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93560"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "apolipoprotein A-I amyloidosis" EXACT [Orphanet:93560]
synonym: "familial amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560]
synonym: "familial renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560]
synonym: "hereditary amyloid nephropathy due to apolipoprotein A-I variant" EXACT [Orphanet:93560]
synonym: "hereditary renal amyloidosis due to apolipoprotein A-I variant" EXACT [Orphanet:93560]
xref: GARD:19224 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:93560", source="Orphanet:93560/attributed", source="Orphanet:93560/ntbt"}
xref: MEDGEN:1842920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201062 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:93560 {source="MONDO:equivalentTo"}
xref: UMLS:C5680269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842920"}
is_a: MONDO:0007099 {source="Orphanet:93560"} ! familial visceral amyloidosis

[Term]
id: MONDO:0019732
name: ALys amyloidosis
subset: gard_rare {source="GARD:19225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93561"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561]
synonym: "familial renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561]
synonym: "hereditary amyloid nephropathy due to lysozyme variant" EXACT [Orphanet:93561]
synonym: "hereditary renal amyloidosis due to lysozyme variant" EXACT [Orphanet:93561]
synonym: "lysozyme amyloidosis" EXACT [Orphanet:93561]
xref: GARD:19225 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:93561/attributed", source="Orphanet:93561/ntbt", source="Orphanet:93561"}
xref: MEDGEN:1842307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93561 {source="MONDO:equivalentTo"}
xref: UMLS:C5680270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842307"}
is_a: MONDO:0007099 {source="Orphanet:93561"} ! familial visceral amyloidosis

[Term]
id: MONDO:0019733
name: AFib amyloidosis
subset: gard_rare {source="GARD:19226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93562"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562]
synonym: "fibrinogen A alpha-chain amyloidosis" EXACT [Orphanet:93562]
synonym: "hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562]
synonym: "hereditary renal amyloidosis due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562]
xref: GARD:19226 {source="MONDO:GARD"}
xref: ICD10CM:E85.0 {source="Orphanet:93562", source="Orphanet:93562/attributed", source="Orphanet:93562/ntbt"}
xref: MEDGEN:1826152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93562 {source="MONDO:equivalentTo"}
xref: UMLS:C5680267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826152"}
is_a: MONDO:0007099 {source="Orphanet:93562"} ! familial visceral amyloidosis

[Term]
id: MONDO:0019734
name: juvenile polymyositis
def: "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." [NCIT:C114358]
subset: gard_rare {source="GARD:12742", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93568"}
subset: orphanet_rare {source="Orphanet:93568"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JPM" EXACT ABBREVIATION [NCIT:C114358]
synonym: "juvenile PM" EXACT [Orphanet:93568]
xref: EFO:1001988 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:12742 {source="MONDO:GARD"}
xref: ICD10CM:M33.2 {source="Orphanet:93568", source="Orphanet:93568/ntbt"}
xref: icd11.foundation:633330307 {source="MONDO:equivalentTo", source="Orphanet:93568"}
xref: MEDGEN:819736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200419 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C114358 {source="MONDO:equivalentTo"}
xref: Orphanet:93568 {source="MONDO:equivalentTo"}
xref: SCTID:738526005 {source="MONDO:equivalentTo"}
xref: UMLS:C3826988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:819736"}
is_a: MONDO:0018010 {source="Orphanet:93568"} ! juvenile idiopathic inflammatory myopathy
is_a: MONDO:0019127 {source="EFO:1001988", source="NCIT:C114358"} ! polymyositis
relationship: excluded_subClassOf MONDO:0019724 {source="MONDO:Redundant", source="Orphanet:93568", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis" xsd:anyURI {source="GARD:0012742"}

[Term]
id: MONDO:0019735
name: polymyalgia rheumatica
def: "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." [NCIT:P378]
subset: gard_rare {source="GARD:4704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1593"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polymyalgia rheumatica" EXACT [DOID:853, ICD9CM:725]
synonym: "rhizomelic pseudopolyarthritis" EXACT [Orphanet:93569]
xref: DOID:853 {source="MONDO:equivalentTo"}
xref: EFO:0008518 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:4704 {source="MONDO:GARD"}
xref: ICD10CM:M35.3 {source="DOID:853", source="Orphanet:93569/e", source="Orphanet:93569"}
xref: ICD9:725 {source="DOID:853", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10068240 {source="Orphanet:93569/e", source="Orphanet:93569"}
xref: MEDGEN:19393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011111 {source="DOID:853", source="MONDO:equivalentTo"}
xref: NCIT:C85018 {source="DOID:853", source="MONDO:equivalentTo"}
xref: NORD:1593 {source="MONDO:NORD"}
xref: Orphanet:93569 {source="MONDO:equivalentTo"}
xref: SCTID:156656001 {source="DOID:853"}
xref: SCTID:202834009 {source="DOID:853"}
xref: SCTID:267988003 {source="DOID:853"}
xref: SCTID:65323003 {source="DOID:853", source="MONDO:equivalentTo"}
xref: UMLS:C0032533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19393"}
is_a: MONDO:0002254 {source="NCIT:C85018"} ! syndromic disease
is_a: MONDO:0005554 {source="MESH:D011111", source="MONDO:Redundant", source="NCIT:C85018", source="Orphanet:93569"} ! rheumatic disorder
relationship: excluded_subClassOf MONDO:0005336 {source="DOID:853", source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare

[Term]
id: MONDO:0019736
name: dense deposit disease
def: "Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen." [Orphanet:93571]
subset: gard_rare {source="GARD:8555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:93571"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93571"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glomerulonephritis membranoproliferative type 2" RELATED [GARD:0008555]
synonym: "membranoproliferative glomerulonephritis type 2" EXACT [Orphanet:93571]
synonym: "membranoproliferative glomerulonephritis type II" RELATED [GARD:0008555]
synonym: "Mesangiocapillary glomerulonephritis type 2" EXACT [NCIT:C123039]
synonym: "MPGN 2" RELATED [GARD:0008555]
xref: GARD:8555 {source="MONDO:GARD"}
xref: ICD10CM:N04.6 {source="Orphanet:93571", source="Orphanet:93571/e", source="Orphanet:93571/specific"}
xref: MEDGEN:124345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015432 {source="Orphanet:93571", source="Orphanet:93571/e"}
xref: NANDO:1200739 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123039 {source="MONDO:equivalentTo"}
xref: Orphanet:93571 {source="MONDO:equivalentTo"}
xref: SCTID:722760002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268743 {source="MONDO:equivalentTo", source="MEDGEN:124345", source="MONDO:MEDGEN"}
is_a: MONDO:0018904 {source="MONDO:Redundant", source="NCIT:C123039", source="Orphanet:93571/inferred"} ! primary membranoproliferative glomerulonephritis
relationship: excluded_subClassOf MONDO:0018013 {source="Orphanet:93571", source="https://orcid.org/0000-0001-5208-3432"} ! non-immunoglobulin-mediated membranoproliferative glomerulonephritis

[Term]
id: MONDO:0019737
name: thrombotic microangiopathy
def: "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation." [NCIT:C62605]
subset: disease_grouping
subset: gard_rare {source="GARD:19227", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:93573"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19227 {source="MONDO:GARD"}
xref: ICD10CM:M31.1 {source="MONDO:equivalentTo"}
xref: ICD9:446.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10043645 {source="Orphanet:93573", source="Orphanet:93573/e"}
xref: MEDGEN:403479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057049 {source="Orphanet:93573", source="MONDO:equivalentTo", source="Orphanet:93573/e"}
xref: NCIT:C62605 {source="MONDO:equivalentTo"}
xref: Orphanet:93573 {source="MONDO:equivalentTo"}
xref: SCTID:126729006 {source="MONDO:equivalentTo"}
xref: UMLS:C2717961 {source="MEDGEN:403479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C62605"} ! blood coagulation disease
relationship: excluded_subClassOf MONDO:0005240 {source="Orphanet:93573", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019750"} ! rare

[Term]
id: MONDO:0019738
name: atypical hemolytic-uremic syndrome with H factor anomaly
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_etiological_subtype {source="Orphanet:93579"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aHUS with H factor anomaly" EXACT [Orphanet:93579]
synonym: "atypical HUS with H factor anomaly" EXACT [Orphanet:93579]
synonym: "D-HUS with H factor anomaly" EXACT [Orphanet:93579]
synonym: "hemolytic-uremic syndrome without diarrhea with H factor anomaly" EXACT [Orphanet:93579]
synonym: "hemolytic-uremic syndrome without diarrhoea with H factor anomaly" EXACT OMO:0003005 []
xref: ICD10CM:D58.8 {source="Orphanet:93579", source="Orphanet:93579/attributed", source="Orphanet:93579/ntbt"}
xref: Orphanet:93579 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0009335 ! hemolytic uremic syndrome, atypical, susceptibility to, 1
is_a: MONDO:0016244 {source="MONDO:Redundant", source="Orphanet:93579"} ! atypical hemolytic-uremic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019739
name: atypical hemolytic-uremic syndrome with anti-factor H antibodies
subset: gard_rare {source="GARD:16823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93581"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93581"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aHUS with anti-factor H antibodies" EXACT [Orphanet:93581]
synonym: "atypical HUS with anti-factor H antibodies" EXACT [Orphanet:93581]
synonym: "D-HUS with anti-factor H antibodies" EXACT [Orphanet:93581]
synonym: "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" EXACT [Orphanet:93581]
synonym: "hemolytic-uremic syndrome without diarrhoea with anti-factor H antibodies" EXACT OMO:0003005 []
xref: GARD:16823 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:93581", source="Orphanet:93581/attributed", source="Orphanet:93581/ntbt"}
xref: MEDGEN:1825998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93581 {source="MONDO:equivalentTo"}
xref: UMLS:C5680286 {source="MEDGEN:1825998", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009335 ! hemolytic uremic syndrome, atypical, susceptibility to, 1
is_a: MONDO:0016244 {source="MONDO:Redundant", source="Orphanet:93581"} ! atypical hemolytic-uremic syndrome

[Term]
id: MONDO:0019740
name: acquired thrombotic thrombocytopenic purpura
def: "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." [Orphanet:93585]
subset: gard_rare {source="GARD:4607", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93585"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired ADAMTS13 deficiency" EXACT [NCIT:C131653]
synonym: "acquired thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/acquired]
synonym: "acquired TTP" EXACT [Orphanet:93585]
synonym: "autoimmune thrombotic thrombocytopenic purpura" EXACT [Orphanet:93585]
synonym: "idiopathic thrombotic thrombocytopenic purpura" RELATED [GARD:0004607]
synonym: "Moschowitz syndrome" RELATED [GARD:0004607]
synonym: "purpura, thrombotic thrombocytopenic" BROAD [GARD:0004607]
synonym: "TTP" BROAD ABBREVIATION [GARD:0004607]
xref: GARD:4607 {source="MONDO:GARD"}
xref: ICD10CM:M31.3 {source="Orphanet:93585/ntbt", source="MONDO:relatedTo", source="Orphanet:93585"}
xref: MEDGEN:391723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536901 {source="Orphanet:93585", source="MONDO:equivalentTo", source="Orphanet:93585/e"}
xref: NANDO:1200318 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200319 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131653 {source="MONDO:equivalentTo"}
xref: Orphanet:93585 {source="MONDO:equivalentTo"}
xref: SCTID:438476003 {source="MONDO:equivalentTo"}
xref: UMLS:C2584778 {source="MEDGEN:391723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018896 {source="MESH:C536901", source="MONDO:Redundant", source="NCIT:C131653", source="Orphanet:93585"} ! thrombotic thrombocytopenic purpura
intersection_of: MONDO:0018896 ! thrombotic thrombocytopenic purpura
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0019741
name: familial cystic renal disease
def: "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:19228", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:93587"}
subset: rare
synonym: "hereditary cystic kidney disease" EXACT [MONDO:patterns/hereditary]
xref: GARD:19228 {source="MONDO:GARD"}
xref: MEDGEN:1842297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93587 {source="MONDO:equivalentTo"}
xref: UMLS:C5680285 {source="MEDGEN:1842297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="Orphanet:93587", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
intersection_of: MONDO:0002473 ! cystic kidney disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare

[Term]
id: MONDO:0019742
name: late-onset nephronophthisis
subset: gard_rare {source="GARD:16824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93589"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16824 {source="MONDO:GARD"}
xref: ICD10CM:Q61.5 {source="Orphanet:93589", source="Orphanet:93589/attributed", source="Orphanet:93589/ntbt"}
xref: MEDGEN:1842314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93589 {source="MONDO:equivalentTo"}
xref: UMLS:C5681620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842314"}
is_a: MONDO:0019005 {source="Orphanet:93589"} ! nephronophthisis
is_a: MONDO:0019232 {source="PMID:33340416"} ! inborn disorder of peptide metabolism
relationship: has_characteristic HP:0000007 {source="Orphanet:93589"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019743
name: obsolete nephropathy secondary to a storage or other metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:93593"}
xref: GARD:19229 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93593 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019744
name: obsolete rare renal tubular disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93603"}
xref: GARD:19230 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93603 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019745
name: cystinuria type A
subset: gard_rare {source="GARD:16827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93612"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93612"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16827 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:93612", source="Orphanet:93612/attributed", source="Orphanet:93612/ntbt"}
xref: MEDGEN:347441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565652 {source="MONDO:equivalentTo"}
xref: Orphanet:93612 {source="MONDO:equivalentTo"}
xref: UMLS:C1857388 {source="MEDGEN:347441", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009067 {source="MESH:C531664", source="Orphanet:93612"} ! cystinuria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019746
name: cystinuria type B
subset: gard_rare {source="GARD:16828", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:93613"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93613"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16828 {source="MONDO:GARD"}
xref: ICD10CM:E72.0 {source="Orphanet:93613/attributed", source="Orphanet:93613/ntbt", source="Orphanet:93613"}
xref: MEDGEN:347442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93613 {source="MONDO:equivalentTo"}
xref: UMLS:C1857389 {source="MEDGEN:347442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009067 {source="Orphanet:93613"} ! cystinuria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0019747
name: obsolete hematological disorder with renal involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hematologic disease'
subset: ordo_group_of_disorders {source="Orphanet:93614"}
xref: GARD:19231 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93614 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005570

[Term]
id: MONDO:0019748
name: obsolete rare cause of hypertension
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93618"}
xref: GARD:19232 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93618 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019749
name: obsolete rare renal tumor
def: "OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93619"}
synonym: "rare kidney neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:19233 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93619 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021163

[Term]
id: MONDO:0019750
name: obsolete rare renal disease
def: "OBSOLETE. Any of the forms of urinary system disease that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93626"}
synonym: "rare kidney disease" EXACT [MONDO:patterns/rare]
synonym: "rare urinary system disease" EXACT [MONDO:patterns/rare]
xref: GARD:22512 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93626 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005240

[Term]
id: MONDO:0019751
name: autoinflammatory syndrome
def: "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." [NCIT:C119050, PMID:23827249]
comment: Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom
subset: disease_grouping
subset: gard_rare {source="GARD:19234", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19234 {source="MONDO:GARD"}
xref: ICD10CM:M04-M04 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10072220 {source="Orphanet:93665", source="Orphanet:93665/e"}
xref: MEDGEN:855741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100156 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C119050 {source="MONDO:equivalentTo"}
xref: Orphanet:93665 {source="MONDO:equivalentTo"}
xref: UMLS:C3890737 {source="MEDGEN:855741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C119050"} ! syndromic disease
is_a: MONDO:0005554 {source="Orphanet:93665"} ! rheumatic disorder
relationship: disease_has_basis_in_disruption_of GO:0006954 {source="PMID:23827249"} ! inflammatory response
relationship: disease_has_basis_in_disruption_of GO:0045087 {source="PMID:23827249"} ! innate immune response
relationship: disease_has_basis_in_dysfunction_of GO:0061702 {source="PMID:23827249"} ! canonical inflammasome complex
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare

[Term]
id: MONDO:0019752
name: pediatric Castleman disease
def: "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms." [Orphanet:93682]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: ICD10CM:D36.0 {source="Orphanet:93682/ntbt", source="Orphanet:93682"}
xref: Orphanet:93682 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0015564 {source="Orphanet:93682"} ! Castleman disease
intersection_of: MONDO:0015564 ! Castleman disease
intersection_of: has_characteristic HP:0011463 ! Childhood onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019753
name: localized Castleman disease
def: "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." [Orphanet:93685]
subset: gard_rare {source="GARD:6005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93685"}
subset: rare
synonym: "localised Angiofollicular lymphoid hyperplasia" EXACT OMO:0003005 []
synonym: "localized Angiofollicular lymphoid hyperplasia" EXACT [NCIT:C115200]
synonym: "localized Castleman disease" EXACT [NCIT:C115200]
synonym: "Unicentric angiofollicular ganglionic hyperplasia" RELATED [GARD:0006005]
synonym: "Unicentric angiofollicular lymph hyperplasia" RELATED [GARD:0006005]
synonym: "Unicentric Castleman disease" RELATED [GARD:0006005]
xref: GARD:6005 {source="MONDO:GARD"}
xref: ICD10CM:D36.0 {source="Orphanet:93685/ntbt", source="Orphanet:93685"}
xref: MEDGEN:858176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C115200 {source="MONDO:equivalentTo"}
xref: Orphanet:93685 {source="MONDO:equivalentTo"}
xref: UMLS:C3898582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:858176"}
is_a: MONDO:0015564 {source="NCIT:C115200", source="Orphanet:93685"} ! Castleman disease

[Term]
id: MONDO:0019754
name: multicentric Castleman disease
def: "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein." [Orphanet:93686]
subset: gard_rare {source="GARD:22310", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:570438"}
subset: rare
synonym: "HHV-8-associated multicentric Castleman disease" EXACT [Orphanet:570438]
synonym: "Human herpesvirus-8-associated multicentric Castleman disease" EXACT [Orphanet:570438]
synonym: "idiopathic multicentric Castleman's disease" RELATED [GARD:0009644]
synonym: "MCD" EXACT ABBREVIATION [DOID:0111152, Orphanet:93686]
synonym: "multicentric Angiofollicular lymphoid hyperplasia" EXACT [NCIT:C27855]
synonym: "multicentric Castleman's disease" EXACT [NCIT:C27855]
synonym: "multicentric giant lymph node hyperplasia" EXACT [DOID:0111152, Orphanet:93686]
synonym: "multicentric plasma cell variant of Castleman's disease" RELATED [GARD:0009644]
synonym: "plasmablastic multicentric Castleman disease" EXACT [DOID:0111152]
synonym: "PMCD" EXACT ABBREVIATION [DOID:0111152]
xref: DOID:0111152 {source="MONDO:equivalentTo"}
xref: GARD:22310 {source="MONDO:GARD"}
xref: ICD10CM:D36.0 {source="Orphanet:93686", source="Orphanet:93686/ntbt"}
xref: MEDGEN:233197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537372 {source="Orphanet:93686", source="Orphanet:93686/e"}
xref: NCIT:C27855 {source="MONDO:equivalentTo", source="DOID:0111152"}
xref: Orphanet:570438 {source="MONDO:equivalentTo"}
xref: Orphanet:93686 {source="MONDO:equivalentObsolete", source="DOID:0111152"}
xref: UMLS:C1334815 {source="MEDGEN:233197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015157 {source="MONDO:Redundant", source="Orphanet:93686/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! human herpesvirus 8-related tumor
is_a: MONDO:0015564 {source="DOID:0111152", source="NCIT:C27855", source="Orphanet:93686"} ! Castleman disease
relationship: seeAlso https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease {source="DOID:0111152"}

[Term]
id: MONDO:0019755
name: developmental defect during embryogenesis
def: "A disease that has its basis in the disruption of embryonic morphogenesis." [MONDO:design_pattern]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:93890"}
subset: otar {source="MONDO:OTAR"}
synonym: "congenital malformation syndrome" EXACT []
synonym: "developmental defect during embryogenesis" EXACT []
synonym: "disorder of embryonic morphogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "embryonic morphogenesis disease" EXACT [MONDO:design_pattern]
synonym: "malformation syndrome" EXACT [Orphanet:93890]
synonym: "rare developmental defect during embryogenesis" EXACT [Orphanet:93890]
xref: ICD10CM:Q00-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:Q80-Q89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:759.7
xref: MEDGEN:1825997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99267 {source="MONDO:equivalentTo"}
xref: Orphanet:93890 {source="MONDO:equivalentTo"}
xref: SCTID:400038003 {source="MONDO:equivalentTo"}
xref: UMLS:C5680284 {source="MONDO:equivalentTo", source="MEDGEN:1825997", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_basis_in_disruption_of GO:0048598 ! embryonic morphogenesis

[Term]
id: MONDO:0019756
name: lobar holoprosencephaly
def: "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." [Orphanet:93924]
subset: gard_rare {source="GARD:16830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93924"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16830 {source="MONDO:GARD"}
xref: ICD10CM:Q04.2 {source="Orphanet:93924/attributed", source="Orphanet:93924/ntbt", source="Orphanet:93924"}
xref: MEDGEN:96559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93924 {source="MONDO:equivalentTo"}
xref: SCTID:253136007 {source="MONDO:equivalentTo"}
xref: UMLS:C0431362 {source="MEDGEN:96559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016296 {source="Orphanet:93924"} ! holoprosencephaly

[Term]
id: MONDO:0019757
name: alobar holoprosencephaly
def: "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure." [Orphanet:93925]
subset: gard_rare {source="GARD:16831", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93925"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16831 {source="MONDO:GARD"}
xref: ICD10CM:Q04.2 {source="Orphanet:93925/attributed", source="Orphanet:93925/ntbt", source="Orphanet:93925"}
xref: MEDGEN:140909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93925 {source="MONDO:equivalentTo"}
xref: SCTID:253137003 {source="MONDO:equivalentTo"}
xref: UMLS:C0431363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140909"}
is_a: MONDO:0016296 {source="Orphanet:93925"} ! holoprosencephaly

[Term]
id: MONDO:0019758
name: obsolete midline interhemispheric variant of holoprosencephaly
def: "OBSOLETE. Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." [Orphanet:93926]
subset: ordo_subtype_of_a_disorder {source="Orphanet:93926"}
subset: otar {source="MONDO:OTAR"}
synonym: "middle interhemispheric fusion variant" EXACT [Orphanet:93926]
synonym: "middle interhemispheric variant of holoprosencephaly" EXACT [Orphanet:93926]
synonym: "MIH" EXACT ABBREVIATION [Orphanet:93926]
synonym: "MIH type HPE" EXACT [Orphanet:93926]
synonym: "MIHF" EXACT ABBREVIATION [Orphanet:93926]
synonym: "MIHV" EXACT ABBREVIATION [Orphanet:93926]
synonym: "Syntelencephaly" EXACT [Orphanet:93926]
xref: GARD:16832 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.2 {source="Orphanet:93926/attributed", source="Orphanet:93926/ntbt", source="Orphanet:93926"}
xref: Orphanet:93926 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019759
name: epispadias
def: "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." [Orphanet:93928]
subset: gard_rare {source="GARD:19235", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93928"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epispadias" EXACT [MONDO:ambiguous]
synonym: "epispadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19235 {source="MONDO:GARD"}
xref: HP:0000039 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q64.0 {source="Orphanet:93928", source="Orphanet:93928/e", source="Orphanet:93928/specific"}
xref: icd11.foundation:397402420 {source="Orphanet:93928", source="MONDO:equivalentTo"}
xref: ICD9:752.62 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10015088 {source="Orphanet:93928", source="Orphanet:93928/e"}
xref: MEDGEN:41839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004842 {source="Orphanet:93928", source="MONDO:equivalentTo", source="Orphanet:93928/e"}
xref: NCIT:C98923 {source="MONDO:equivalentTo"}
xref: Orphanet:93928 {source="MONDO:equivalentTo"}
xref: SCTID:406476007 {source="MONDO:equivalentTo"}
xref: UMLS:C0014588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41839"}
is_a: MONDO:0017919 {source="Orphanet:93928"} ! exstrophy-epispadias complex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3650" xsd:anyURI
property_value: IAO:0000589 "epispadias (disease)" xsd:string

[Term]
id: MONDO:0019760
name: terminal transverse defects of arm
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:93937"}
subset: rare
synonym: "congenital limb amputation" EXACT [Orphanet:93937]
xref: ICD10CM:Q79.8 {source="Orphanet:93937/attributed", source="Orphanet:93937/ntbt", source="Orphanet:93937"}
xref: MEDGEN:341800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565681 {source="MONDO:equivalentTo"}
xref: Orphanet:93937 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1857578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341800"}
is_a: MONDO:0015167 ! amniotic band syndrome

[Term]
id: MONDO:0019761
name: laryngotracheoesophageal cleft type 1
def: "Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms." [Orphanet:93938]
subset: gard_rare {source="GARD:19236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93938"}
subset: rare
synonym: "laryngo-tracheo-esophageal cleft type 1" EXACT [Orphanet:93938]
synonym: "LTEC I" EXACT [Orphanet:93938]
synonym: "LTEC1" EXACT ABBREVIATION [Orphanet:93938]
xref: GARD:19236 {source="MONDO:GARD"}
xref: ICD10CM:Q32.1 {source="Orphanet:93938", source="Orphanet:93938/ntbt"}
xref: MEDGEN:667239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93938 {source="MONDO:equivalentTo"}
xref: UMLS:C0584823 {source="MONDO:equivalentTo", source="MEDGEN:667239", source="MONDO:MEDGEN"}
is_a: MONDO:0016060 {source="Orphanet:93938"} ! laryngotracheoesophageal cleft

[Term]
id: MONDO:0019762
name: laryngotracheoesophageal cleft type 2
def: "Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections." [Orphanet:93939]
subset: gard_rare {source="GARD:19237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93939"}
subset: rare
synonym: "laryngo-tracheo-esophageal cleft type 2" EXACT [Orphanet:93939]
synonym: "LTEC II" EXACT [Orphanet:93939]
synonym: "LTEC2" EXACT ABBREVIATION [Orphanet:93939]
xref: GARD:19237 {source="MONDO:GARD"}
xref: ICD10CM:Q32.1 {source="Orphanet:93939", source="Orphanet:93939/ntbt"}
xref: MEDGEN:667240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93939 {source="MONDO:equivalentTo"}
xref: UMLS:C0584824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:667240"}
is_a: MONDO:0016060 {source="Orphanet:93939"} ! laryngotracheoesophageal cleft

[Term]
id: MONDO:0019763
name: laryngotracheoesophageal cleft type 3
def: "Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage." [Orphanet:93940]
subset: gard_rare {source="GARD:16833", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93940"}
subset: rare
synonym: "laryngo-tracheo-esophageal cleft type 3" EXACT [Orphanet:93940]
synonym: "LTEC III" EXACT [Orphanet:93940]
synonym: "LTEC3" EXACT ABBREVIATION [Orphanet:93940]
xref: GARD:16833 {source="MONDO:GARD"}
xref: ICD10CM:Q32.1 {source="Orphanet:93940", source="Orphanet:93940/ntbt"}
xref: MEDGEN:667241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93940 {source="MONDO:equivalentTo"}
xref: UMLS:C0584825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:667241"}
is_a: MONDO:0016060 {source="Orphanet:93940"} ! laryngotracheoesophageal cleft

[Term]
id: MONDO:0019764
name: laryngotracheoesophageal cleft type 4
def: "Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress." [Orphanet:93941]
subset: gard_rare {source="GARD:19238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93941"}
subset: rare
synonym: "laryngo-tracheo-esophageal cleft type 4" EXACT [Orphanet:93941]
synonym: "LTEC IV" EXACT [Orphanet:93941]
synonym: "LTEC4" EXACT ABBREVIATION [Orphanet:93941]
xref: GARD:19238 {source="MONDO:GARD"}
xref: ICD10CM:Q32.1 {source="Orphanet:93941", source="Orphanet:93941/ntbt"}
xref: MEDGEN:667243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93941 {source="MONDO:equivalentTo"}
xref: UMLS:C0584827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:667243"}
is_a: MONDO:0016060 {source="Orphanet:93941"} ! laryngotracheoesophageal cleft

[Term]
id: MONDO:0019765
name: obsolete celosomia
subset: ordo_morphological_anomaly {source="Orphanet:93942"}
xref: ICD10CM:Q76.7 {source="Orphanet:93942", source="Orphanet:93942/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:93942 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:44518003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6079" xsd:anyURI
is_obsolete: true
consider: HP:0100657

[Term]
id: MONDO:0019766
name: X-linked intellectual disability, Porteous type
subset: gard_rare {source="GARD:19239", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93945"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19239 {source="MONDO:GARD"}
xref: MEDGEN:1842708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93945 {source="MONDO:equivalentTo"}
xref: UMLS:C5681616 {source="MEDGEN:1842708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010653 {source="Orphanet:93945"} ! Renpenning syndrome

[Term]
id: MONDO:0019767
name: hamel cerebro-palato-cardiac syndrome
def: "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." [Orphanet:93946]
subset: gard_rare {source="GARD:19240", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93946"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19240 {source="MONDO:GARD"}
xref: MEDGEN:1842506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93946 {source="MONDO:equivalentTo"}
xref: UMLS:C5681615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842506"}
is_a: MONDO:0010653 {source="Orphanet:93946"} ! Renpenning syndrome

[Term]
id: MONDO:0019768
name: X-linked intellectual disability, Golabi-Ito-hall type
def: "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." [Orphanet:93947]
subset: gard_rare {source="GARD:19241", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93947"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19241 {source="MONDO:GARD"}
xref: MEDGEN:1842639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93947 {source="MONDO:equivalentTo"}
xref: UMLS:C5681614 {source="MEDGEN:1842639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010653 {source="Orphanet:93947"} ! Renpenning syndrome

[Term]
id: MONDO:0019769
name: X-linked intellectual disability, Sutherland-Haan type
subset: gard_rare {source="GARD:19242", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:93950"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19242 {source="MONDO:GARD"}
xref: MEDGEN:1842836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93950 {source="MONDO:equivalentTo"}
xref: UMLS:C5681613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842836"}
is_a: MONDO:0010653 {source="Orphanet:93950"} ! Renpenning syndrome

[Term]
id: MONDO:0019770
name: X-linked dominant intellectual disability-epilepsy syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: Orphanet:93951 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0016160 {source="Orphanet:93951"} ! X-linked intellectual disability-epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019771
name: oromandibular dystonia
def: "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." [Orphanet:93958]
subset: gard_rare {source="GARD:19243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93958"}
subset: orphanet_rare {source="Orphanet:93958"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0050843 {source="MONDO:equivalentTo"}
xref: GARD:19243 {source="MONDO:GARD"}
xref: ICD10CM:G24.4 {source="Orphanet:93958/specific", source="Orphanet:93958/e", source="Orphanet:93958"}
xref: MEDGEN:473560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:93958 {source="MONDO:equivalentTo"}
xref: UMLS:C2242577 {source="MEDGEN:473560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000477 {source="DOID:0050843", source="Wikipedia:Dystonia"} ! focal dystonia
is_a: MONDO:0015990 {source="Orphanet:93958"} ! focal, segmental or multifocal dystonia

[Term]
id: MONDO:0019772
name: blepharospasm-oromandibular dystonia syndrome
def: "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia." [Orphanet:93964]
subset: gard_rare {source="GARD:7008", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1425"}
subset: ordo_disorder {source="Orphanet:93964"}
subset: orphanet_rare {source="Orphanet:93964"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharospasm - oromandibular dystonia" RELATED [GARD:0007008]
synonym: "blepharospasm-oromandibular dystonia" RELATED [GARD:0007008]
synonym: "Brueghel syndrome" RELATED [GARD:0007008]
synonym: "idiopathic blepharospasm-oromandibular dystonia syndrome" RELATED [GARD:0007008]
synonym: "Meige dystonia" EXACT [Orphanet:93964]
synonym: "Meige Syndrome" EXACT [NORD:1425]
synonym: "Meige syndrome" EXACT [MONDO:0002825, Orphanet:93964]
synonym: "Meige's syndrome" RELATED [GARD:0007008]
synonym: "oral facial dystonia" RELATED [GARD:0007008]
synonym: "segmental cranial dystonia" RELATED [GARD:0007008]
xref: DOID:3982 {source="MONDO:equivalentTo"}
xref: GARD:7008 {source="MONDO:GARD"}
xref: ICD10CM:G24.8 {source="Orphanet:93964", source="Orphanet:93964/attributed", source="Orphanet:93964/ntbt"}
xref: MEDGEN:44341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008538 {source="DOID:3982", source="MONDO:equivalentTo"}
xref: NORD:1425 {source="MONDO:NORD"}
xref: Orphanet:93964 {source="MONDO:equivalentTo"}
xref: SCTID:230325003 {source="MONDO:equivalentTo"}
xref: UMLS:C0025183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44341"}
is_a: MONDO:0015990 {source="Orphanet:93964"} ! focal, segmental or multifocal dystonia

[Term]
id: MONDO:0019773
name: myelomeningocele
def: "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect." [https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele]
subset: gard_rare {source="GARD:3475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93969"}
subset: ordo_morphological_anomaly {source="Orphanet:93969"}
subset: orphanet_rare {source="Orphanet:93969"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "meningomyelocele" RELATED [GARD:0003475]
xref: DOID:0060326 {source="MONDO:equivalentTo"}
xref: GARD:3475 {source="MONDO:GARD"}
xref: HP:0002475 {source="MONDO:otherHierarchy", source="DOID:0060326"}
xref: ICD10CM:Q05 {source="DOID:0060326"}
xref: ICD10CM:Q05.0 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.1 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.2 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.3 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.4 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.5 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.6 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.7 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.8 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: ICD10CM:Q05.9 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"}
xref: MEDGEN:7538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008591 {source="MONDO:equivalentTo", source="DOID:0060326"}
xref: NANDO:1200509 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100215 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200814 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C101201 {source="DOID:0060326"}
xref: NCIT:C98874 {source="DOID:0060326"}
xref: Orphanet:93969 {source="MONDO:equivalentTo"}
xref: SCTID:156890007 {source="DOID:0060326"}
xref: SCTID:203984008 {source="DOID:0060326"}
xref: SCTID:203988006 {source="DOID:0060326"}
xref: SCTID:203989003 {source="DOID:0060326"}
xref: SCTID:203993009 {source="DOID:0060326"}
xref: SCTID:203994003 {source="DOID:0060326", source="MONDO:directSiblingOf"}
xref: SCTID:203995002 {source="DOID:0060326"}
xref: SCTID:203999008 {source="DOID:0060326"}
xref: SCTID:268308005 {source="DOID:0060326"}
xref: SCTID:414667000 {source="MONDO:equivalentTo", source="DOID:0060326"}
xref: SCTID:7096005 {source="DOID:0060326"}
xref: SCTID:82058009 {source="DOID:0060326"}
xref: UMLS:C0025312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7538"}
is_a: MONDO:0017069 {source="Orphanet:93969"} ! spina bifida cystica
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele" xsd:anyURI {source="GARD:0003475"}

[Term]
id: MONDO:0019774
name: obsolete Holmes-Gang syndrome
def: "OBSOLETE. Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93970]
comment: Reason: out of scope. Term to consider: alpha thalassemia-X-linked intellectual disability syndrome'
subset: ordo_malformation_syndrome {source="Orphanet:93970"}
xref: ICD10CM:Q87.0 {source="Orphanet:93970/attributed", source="Orphanet:93970/ntbt", source="Orphanet:93970"}
xref: Orphanet:93970 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4130" xsd:anyURI
is_obsolete: true
consider: MONDO:0010519

[Term]
id: MONDO:0019775
name: obsolete Chudley-Lowry-Hoar syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5061" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010663

[Term]
id: MONDO:0019776
name: obsolete Juberg-Marsidi syndrome
def: "OBSOLETE. Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93972]
subset: ordo_malformation_syndrome {source="Orphanet:93972"}
synonym: "juberg Marsidi syndrome" EXACT []
xref: MESH:C537457 {source="Orphanet:93972", source="Orphanet:93972/e"}
xref: Orphanet:93972 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:721875000 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0001071 {source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5061" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019777
name: obsolete Carpenter-Waziri syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5061" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010663

[Term]
id: MONDO:0019778
name: obsolete Smith-Fineman-Myers syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5061" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010663

[Term]
id: MONDO:0019779
name: obsolete Renier-Gabreels-Jasper syndrome
def: "OBSOLETE. Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." [Orphanet:93975]
subset: ordo_malformation_syndrome {source="Orphanet:93975"}
synonym: "Renier Gabreels Jasper syndrome" RELATED [GARD:0004672]
xref: Orphanet:93975 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:723501008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5061" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4672/renier-gabreels-jasper-syndrome" xsd:anyURI {source="GARD:0004672"}
is_obsolete: true
consider: MONDO:0010663

[Term]
id: MONDO:0019780
name: anotia
def: "A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." [https://orcid.org/0000-0001-5208-3432, Orphanet:93976]
subset: gard_rare {source="GARD:16835", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93976"}
subset: ordo_morphological_anomaly {source="Orphanet:93976"}
subset: orphanet_rare {source="Orphanet:93976"}
subset: rare
xref: GARD:16835 {source="MONDO:GARD"}
xref: ICD10CM:Q16.0 {source="Orphanet:93976/specific", source="Orphanet:93976/nd", source="Orphanet:93976"}
xref: ICD10CM:Q16.1 {source="Orphanet:93976/specific", source="Orphanet:93976/nd", source="Orphanet:93976"}
xref: icd11.foundation:2056675356 {source="MONDO:equivalentTo", source="Orphanet:93976"}
xref: ICD9:744.01 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10002654 {source="Orphanet:93976/e", source="Orphanet:93976"}
xref: MEDGEN:152377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537772 {source="Orphanet:93976/e", source="Orphanet:93976"}
xref: Orphanet:93976 {source="MONDO:equivalentTo"}
xref: SCTID:57436000 {source="MONDO:equivalentTo"}
xref: UMLS:C0702139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152377"}
is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0019781
name: astrocytoma (excluding glioblastoma)
def: "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C60781]
comment: This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma" EXACT AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C60781]
xref: EFO:0000272 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:9400/3 {source="NCIT:C60781"}
xref: MEDGEN:438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001254 {source="MONDO:equivalentTo"}
xref: NCIT:C60781 {source="MONDO:equivalentTo"}
xref: ONCOTREE:ASTR {source="MONDO:equivalentTo"}
xref: SCTID:147101000119108 {source="MONDO:equivalentTo"}
xref: UMLS:C0004114 {source="MEDGEN:438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021636 {source="NCIT:C60781"} ! astrocytic tumor
relationship: disease_has_location CL:0000127 ! astrocyte

[Term]
id: MONDO:0019782
name: humero-ulnar synostosis
subset: gard_rare {source="GARD:19244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94056"}
subset: ordo_morphological_anomaly {source="Orphanet:94056"}
subset: orphanet_rare {source="Orphanet:94056"}
subset: rare
synonym: "humero-ulnar fusion" EXACT [Orphanet:94056]
xref: GARD:19244 {source="MONDO:GARD"}
xref: ICD10CM:Q74.0 {source="Orphanet:94056/attributed", source="Orphanet:94056/ntbt", source="Orphanet:94056"}
xref: icd11.foundation:2144695561 {source="Orphanet:94056", source="MONDO:equivalentTo"}
xref: MEDGEN:451053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94056 {source="MONDO:equivalentTo"}
xref: UMLS:C0431799 {source="MEDGEN:451053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001411 {source="PMID:12370583", source="https://orcid.org/0009-0001-6494-4831"} ! synostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019783
name: neovascular glaucoma
def: "Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision." [Orphanet:94058]
subset: gard_rare {source="GARD:19245", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_situation {source="Orphanet:94058"}
subset: ordo_disorder {source="Orphanet:94058"}
subset: orphanet_rare {source="Orphanet:94058"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "secondary angle-closure glaucoma with rubeosis" EXACT [DOID:1687]
xref: DOID:1687 {source="MONDO:equivalentTo", source="EFO:1001060"}
xref: EFO:1001060 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19245 {source="MONDO:GARD"}
xref: icd11.foundation:700864997 {source="Orphanet:94058", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10062891 {source="Orphanet:94058", source="Orphanet:94058/e", source="EFO:1001060"}
xref: MEDGEN:4898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015355 {source="Orphanet:94058", source="DOID:1687", source="MONDO:equivalentTo", source="Orphanet:94058/e", source="EFO:1001060"}
xref: Orphanet:94058 {source="MONDO:equivalentTo"}
xref: SCTID:193564003 {source="DOID:1687"}
xref: SCTID:232086000 {source="DOID:1687", source="MONDO:equivalentTo", source="EFO:1001060"}
xref: SCTID:314785001 {source="DOID:1687"}
xref: UMLS:C0017609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4898"}
is_a: MONDO:0005041 {source="DOID:1687", source="EFO:1001060", source="MESH:D015355"} ! glaucoma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0019784
name: 12q14 microdeletion syndrome
def: "12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis." [Orphanet:94063]
subset: gard_rare {source="GARD:13390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94063"}
subset: ordo_malformation_syndrome {source="Orphanet:94063"}
subset: orphanet_rare {source="Orphanet:94063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(12)(q14)" EXACT [Orphanet:94063]
synonym: "deletion 12q14" EXACT [Orphanet:94063]
synonym: "monosomy 12q14" EXACT [Orphanet:94063]
synonym: "osteopoikilosis-short stature-intellectual disability syndrome" EXACT [Orphanet:94063]
xref: DECIPHER:76 {source="MONDO:equivalentTo"}
xref: GARD:13390 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:94063/attributed", source="Orphanet:94063/ntbt", source="Orphanet:94063"}
xref: MEDGEN:930809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94063 {source="MONDO:equivalentTo"}
xref: SCTID:719046005 {source="MONDO:equivalentTo"}
xref: UMLS:C4305140 {source="MEDGEN:930809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016877 {source="Orphanet:94063"} ! partial deletion of the long arm of chromosome 12
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr12q14 ! 12q14 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:94063", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:94063", source="Orphanet:94063/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome" xsd:anyURI {source="GARD:0013390"}

[Term]
id: MONDO:0019785
name: obsolete 15q24 microdeletion syndrome
is_obsolete: true
replaced_by: MONDO:0013256

[Term]
id: MONDO:0019786
name: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
def: "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14." [Orphanet:94066]
subset: gard_rare {source="GARD:19247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94066"}
subset: ordo_malformation_syndrome {source="Orphanet:94066"}
subset: orphanet_rare {source="Orphanet:94066"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19247 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:94066", source="Orphanet:94066/attributed", source="Orphanet:94066/ntbt"}
xref: MEDGEN:1372948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94066 {source="MONDO:equivalentTo"}
xref: UMLS:C4510007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1372948"}
is_a: MONDO:0015159 {source="Orphanet:94066"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:94066", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0019787
name: autoimmune enteropathy
def: "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss." [Orphanet:94075]
subset: disease_grouping
subset: gard_rare {source="GARD:8689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:94075"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "immune-mediated protracted diarrhea of infancy" EXACT [Orphanet:94075]
synonym: "immune-mediated protracted diarrhoea of infancy" EXACT OMO:0003005 []
synonym: "severe immune-mediated enteropathy" EXACT [Orphanet:94075]
xref: GARD:8689 {source="MONDO:GARD"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538273 {source="MONDO:equivalentTo"}
xref: NANDO:2200923 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C94694 {source="MONDO:equivalentTo"}
xref: Orphanet:522043 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:94075 {source="MONDO:equivalentTo"}
xref: SCTID:235728001 {source="MONDO:equivalentTo"}
xref: UMLS:C0341305 {source="MEDGEN:83322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="Orphanet:94075"} ! intestinal disorder
is_a: MONDO:0007179 {source="MESH:C538273/inferred", source="MONDO:Redundant", source="NCIT:C94694", source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune disease
is_a: MONDO:0020598 ! malabsorption syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare

[Term]
id: MONDO:0019788
name: non-secreting paraganglioma
def: "Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed." [Orphanet:94080]
subset: gard_rare {source="GARD:19248", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94080"}
subset: orphanet_rare {source="Orphanet:94080"}
subset: rare
synonym: "non-functioning paraganglioma" RELATED [Orphanet:94080]
xref: GARD:19248 {source="MONDO:GARD"}
xref: MEDGEN:1634671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94080 {source="MONDO:equivalentTo"}
xref: SCTID:764999002 {source="MONDO:equivalentTo"}
xref: UMLS:C4707263 {source="MEDGEN:1634671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000448 {source="https://orcid.org/0000-0002-6601-2165"} ! paraganglioma
is_a: MONDO:0002082 {source="Orphanet:94080"} ! endocrine gland neoplasm
is_a: MONDO:0005151 {source="Orphanet:94080"} ! endocrine system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020005"} ! rare

[Term]
id: MONDO:0019789
name: cytophagic histiocytic panniculitis
def: "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue." [Orphanet:94087]
subset: gard_rare {source="GARD:19249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94087"}
subset: orphanet_rare {source="Orphanet:94087"}
subset: rare
synonym: "CHP" EXACT ABBREVIATION [Orphanet:94087]
synonym: "Winkelmann cytophagic panniculitis" EXACT [Orphanet:94087]
xref: GARD:19249 {source="MONDO:GARD"}
xref: ICD10CM:M35.8 {source="Orphanet:94087", source="Orphanet:94087/ntbt"}
xref: MEDGEN:590528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94087 {source="MONDO:equivalentTo"}
xref: SCTID:238883003 {source="MONDO:equivalentTo"}
xref: UMLS:C0406594 {source="MEDGEN:590528", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006591 {source="https://orcid.org/0000-0002-6601-2165"} ! panniculitis
is_a: MONDO:0019296 {source="Orphanet:94087"} ! subcutaneous tissue disorder

[Term]
id: MONDO:0019790
name: neuroleptic malignant syndrome
def: "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." [Orphanet:94093]
subset: gard_rare {source="GARD:7195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1504"}
subset: ordo_disorder {source="Orphanet:94093"}
subset: orphanet_rare {source="Orphanet:94093"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NMS" EXACT ABBREVIATION [NCIT:C94829]
xref: DOID:14464 {source="MONDO:equivalentTo"}
xref: EFO:1001379 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7195 {source="MONDO:GARD"}
xref: ICD10CM:G21.0 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"}
xref: ICD9:333.92 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14464"}
xref: MedDRA:10029282 {source="Orphanet:94093/e", source="Orphanet:94093"}
xref: MEDGEN:10320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009459 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"}
xref: NCIT:C94829 {source="MONDO:equivalentTo", source="DOID:14464"}
xref: NORD:1504 {source="MONDO:NORD"}
xref: Orphanet:94093 {source="MONDO:equivalentTo", source="DOID:14464"}
xref: SCTID:15244003 {source="MONDO:equivalentTo", source="DOID:14464"}
xref: SCTID:192826000 {source="DOID:14464"}
xref: SCTID:68977009 {source="DOID:14464"}
xref: UMLS:C0027849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10320"}
is_a: MONDO:0002254 {source="NCIT:C94829"} ! syndromic disease
is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome" xsd:anyURI {source="GARD:0007195"}

[Term]
id: MONDO:0019791
name: recessive mitochondrial ataxia syndrome
subset: gard_rare {source="GARD:19251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94125"}
subset: orphanet_rare {source="Orphanet:94125"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MIRAS" EXACT ABBREVIATION [Orphanet:94125]
xref: GARD:19251 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:94125/attributed", source="Orphanet:94125/ntbt", source="Orphanet:94125"}
xref: MEDGEN:1683676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94125 {source="MONDO:equivalentTo"}
xref: UMLS:C4760799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683676"}
is_a: MONDO:0016798 {source="Orphanet:94125"} ! ataxia neuropathy spectrum
is_a: MONDO:0020044 {source="Orphanet:94125"} ! autosomal recessive metabolic cerebellar ataxia

[Term]
id: MONDO:0019792
name: autosomal dominant cerebellar ataxia type I
def: "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." [Orphanet:94145]
subset: disease_grouping
subset: gard_rare {source="GARD:19252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:94145"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADCA1" EXACT ABBREVIATION [Orphanet:94145]
synonym: "ADCAI" EXACT ABBREVIATION [Orphanet:94145]
synonym: "autosomal dominant cerebellar ataxia type 1" EXACT [Orphanet:94145]
synonym: "cerebellar plus syndrome" EXACT [Orphanet:94145]
xref: GARD:19252 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:94145", source="Orphanet:94145/attributed", source="Orphanet:94145/ntbt"}
xref: MEDGEN:1842696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94145 {source="MONDO:equivalentTo"}
xref: UMLS:C5680259 {source="MEDGEN:1842696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020380 {source="Orphanet:94145"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0019793
name: autosomal dominant cerebellar ataxia type III
def: "Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31." [Orphanet:94148]
subset: disease_grouping
subset: gard_rare {source="GARD:19253", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:94148"}
subset: rare
synonym: "ADCA3" EXACT ABBREVIATION [Orphanet:94148]
synonym: "ADCAIII" EXACT ABBREVIATION [Orphanet:94148]
synonym: "autosomal dominant cerebellar ataxia type 3" EXACT [Orphanet:94148]
synonym: "autosomal dominant cerebellar ataxia type III" EXACT [Orphanet:94148]
synonym: "Pure cerebellar syndrome-mild pyramidal signs syndrome" EXACT [Orphanet:94148]
xref: GARD:19253 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:94148", source="Orphanet:94148/attributed", source="Orphanet:94148/ntbt"}
xref: MEDGEN:1842779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94148 {source="MONDO:equivalentTo"}
xref: UMLS:C5680260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842779"}
is_a: MONDO:0020380 {source="Orphanet:94148"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0019794
name: autosomal dominant cerebellar ataxia type IV
subset: disease_grouping
subset: gard_rare {source="GARD:19254", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:94149"}
subset: rare
synonym: "ADCA4" EXACT ABBREVIATION [Orphanet:94149]
synonym: "ADCAIV" EXACT ABBREVIATION [Orphanet:94149]
synonym: "autosomal dominant cerebellar ataxia type 4" EXACT [Orphanet:94149]
synonym: "autosomal dominant cerebellar ataxia type IV" EXACT [Orphanet:94149]
xref: GARD:19254 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:94149", source="Orphanet:94149/attributed", source="Orphanet:94149/ntbt"}
xref: MEDGEN:1842584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94149 {source="MONDO:equivalentTo"}
xref: UMLS:C5680261 {source="MEDGEN:1842584", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020380 {source="Orphanet:94149"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0019795
name: acalvaria
def: "Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal." [Orphanet:945]
subset: gard_rare {source="GARD:361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:945"}
subset: ordo_malformation_syndrome {source="Orphanet:945"}
subset: orphanet_rare {source="Orphanet:945"}
subset: rare
synonym: "Acrania" EXACT [Orphanet:945]
synonym: "primary acalvaria" RELATED [GARD:0000361]
xref: GARD:361 {source="MONDO:GARD"}
xref: ICD10CM:Q00.0 {source="Orphanet:945", source="Orphanet:945/ntbt"}
xref: MEDGEN:418951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535570 {source="MONDO:equivalentTo", source="Orphanet:945", source="Orphanet:945/e"}
xref: MESH:D009436 {source="MONDO:relatedTo", source="Orphanet:945", source="Orphanet:945/e"}
xref: Orphanet:945 {source="MONDO:equivalentTo"}
xref: SCTID:203923004 {source="MONDO:equivalentTo"}
xref: UMLS:C2930936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418951"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/361/acalvaria" xsd:anyURI {source="GARD:0000361"}

[Term]
id: MONDO:0019796
name: acrocephalosyndactyly
def: "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." [Orphanet:946]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrocephalosyndactylia" EXACT [MONDO:0005331, Orphanet:946]
synonym: "acrocephalosyndactyly" EXACT [NCIT:C34348]
synonym: "ACS" EXACT ABBREVIATION [Orphanet:946]
synonym: "apert syndrome" RELATED EXCLUDE [DOID:12960]
xref: DOID:12960 {source="EFO:0004123", source="MONDO:equivalentTo"}
xref: ICD10CM:Q87.0 {source="Orphanet:946/inclusion", source="Orphanet:946", source="Orphanet:946/ntbt"}
xref: ICD9:755.55 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12960"}
xref: MedDRA:10000590 {source="Orphanet:946", source="Orphanet:946/e"}
xref: MEDGEN:267602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000168 {source="EFO:0004123", source="Orphanet:946", source="DOID:12960", source="Orphanet:946/e"}
xref: NCIT:C34348 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:12960"}
xref: Orphanet:946 {source="MONDO:equivalentObsolete"}
xref: SCTID:205257004 {source="DOID:12960"}
xref: SCTID:268262006 {source="MONDO:equivalentTo", source="DOID:12960"}
xref: SCTID:63661009 {source="DOID:12960"}
xref: UMLS:C1510455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267602"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34348"} ! syndromic disease
is_a: MONDO:0015338 {source="Orphanet:946"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis
is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0019797
name: acrodysostosis
def: "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay." [Orphanet:950]
subset: gard_rare {source="GARD:5724", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:722"}
subset: ordo_disorder {source="Orphanet:950"}
subset: ordo_malformation_syndrome {source="Orphanet:950"}
subset: orphanet_rare {source="Orphanet:950"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acrodysplasia" EXACT [Orphanet:950]
synonym: "Arkless-Graham syndrome" EXACT [Orphanet:950]
synonym: "Maroteaux-Malamut syndrome" EXACT [Orphanet:950]
synonym: "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome" RELATED [GARD:0005724]
synonym: "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome" RELATED [GARD:0005724]
xref: DOID:14669 {source="MONDO:equivalentTo"}
xref: GARD:5724 {source="MONDO:GARD"}
xref: ICD10CM:Q75.4 {source="Orphanet:950", source="Orphanet:950/attributed", source="Orphanet:950/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:113097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538179 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="Orphanet:950/e"}
xref: NORD:722 {source="MONDO:NORD"}
xref: OMIMPS:101800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:950 {source="MONDO:equivalentTo"}
xref: SCTID:66758006 {source="DOID:14669", source="MONDO:equivalentTo"}
xref: UMLS:C0220659 {source="MEDGEN:113097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015483 {source="Orphanet:950"} ! mandibulofacial dysostosis
is_a: MONDO:0018234 {source="DOID:14669", source="MESH:C538179", source="MONDO:Redundant", source="Orphanet:950/inferred"} ! dysostosis
is_a: MONDO:0019695 {source="Orphanet:950"} ! acromelic dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:101800"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis" xsd:anyURI {source="GARD:0005724"}

[Term]
id: MONDO:0019798
name: obsolete acute hepatic porphyria
is_obsolete: true
consider: MONDO:0002520

[Term]
id: MONDO:0019799
name: hepatoerythropoietic porphyria
def: "A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis." [https://orcid.org/0000-0001-5208-3432, Orphanet:95159]
subset: gard_rare {source="GARD:6169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95159"}
subset: orphanet_rare {source="Orphanet:95159"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HEP" EXACT ABBREVIATION [OMIM:176100, Orphanet:95159]
xref: DOID:5230 {source="MONDO:equivalentTo"}
xref: GARD:6169 {source="MONDO:GARD"}
xref: ICD10CM:E80.2 {source="Orphanet:95159/attributed", source="Orphanet:95159/ntbt", source="Orphanet:95159"}
xref: MEDGEN:57940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017121 {source="Orphanet:95159", source="MONDO:equivalentTo", source="Orphanet:95159/e", source="DOID:5230"}
xref: NANDO:1200819 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201270 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84754 {source="MONDO:equivalentTo", source="DOID:5230"}
xref: OMIM:176100 {source="Orphanet:95159/ntbt", source="Orphanet:95159", source="MONDO:includedEntryInOMIM"}
xref: Orphanet:95159 {source="MONDO:equivalentTo"}
xref: SCTID:111386004 {source="MONDO:equivalentTo", source="DOID:5230"}
xref: UMLS:C0162569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57940"}
is_a: MONDO:0015104 {source="NCIT:C84754"} ! porphyria cutanea tarda
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12591 {source="Orphanet:95159"} ! UROD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5128" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0019800
name: obsolete chronic hepatic porphyria
def: "OBSOLETE. Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare)." [Orphanet:95161]
subset: otar {source="MONDO:OTAR"}
synonym: "acute hepatic porphyria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
synonym: "chronic acute hepatic porphyria" EXACT [MONDO:design_pattern]
xref: GARD:19256 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E80.2 {source="Orphanet:95161/attributed", source="Orphanet:95161/ntbt", source="Orphanet:95161"}
xref: Orphanet:95161 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0019142 {source="Orphanet:95161", source="https://orcid.org/0000-0001-5208-3432"} ! inherited porphyria
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019801
name: acute adrenal insufficiency
def: "Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made." [Orphanet:95409]
subset: gard_rare {source="GARD:19257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:95409"}
subset: ordo_disorder {source="Orphanet:95409"}
subset: orphanet_rare {source="Orphanet:95409"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute adrenal failure" EXACT [Orphanet:95409]
synonym: "acute adrenocortical insufficiency" EXACT [Orphanet:95409]
synonym: "Addisonian crisis" EXACT [Orphanet:95409]
synonym: "adrenal crisis" EXACT [Orphanet:95409]
synonym: "adrenocortical crisis" EXACT [Orphanet:95409]
xref: GARD:19257 {source="MONDO:GARD"}
xref: ICD10CM:E27.2 {source="Orphanet:95409/ntbt", source="Orphanet:95409"}
xref: icd11.foundation:114442391 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:95409"}
xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C112840 {source="MONDO:equivalentTo"}
xref: Orphanet:95409 {source="MONDO:equivalentTo"}
xref: SCTID:24867002 {source="MONDO:equivalentTo"}
xref: UMLS:C0151467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56227"}
is_a: MONDO:0015128 {source="Orphanet:95409"} ! primary adrenal insufficiency
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0019802
name: secondary short bowel syndrome
def: "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." [Orphanet:95427]
subset: gard_rare {source="GARD:19258", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95427"}
subset: orphanet_rare {source="Orphanet:95427"}
subset: rare
xref: GARD:19258 {source="MONDO:GARD"}
xref: ICD10CM:K91.2 {source="Orphanet:95427", source="Orphanet:95427/btnt"}
xref: MEDGEN:1842747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95427 {source="MONDO:equivalentTo"}
xref: UMLS:C5681579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842747"}
is_a: MONDO:0015183 {source="Orphanet:95427"} ! short bowel syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0019803
name: angioma serpiginosum
def: "Angioma serpiginosum (AS) is a benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko." [Orphanet:95429]
subset: gard_rare {source="GARD:15021", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95429"}
subset: orphanet_rare {source="Orphanet:95429"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioma serpiginosum of skin" EXACT [DOID:4028]
xref: DOID:4028 {source="MONDO:equivalentTo"}
xref: GARD:15021 {source="MONDO:GARD"}
xref: ICD10CM:L81.7 {source="DOID:4028", source="Orphanet:95429/inclusion", source="Orphanet:95429", source="Orphanet:95429/ntbt"}
xref: MEDGEN:75528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536366 {source="DOID:4028"}
xref: NCIT:C3926 {source="DOID:4028", source="MONDO:equivalentTo"}
xref: Orphanet:95429 {source="DOID:4028", source="MONDO:equivalentTo"}
xref: SCTID:11790000 {source="DOID:4028"}
xref: SCTID:195382003 {source="DOID:4028"}
xref: SCTID:49465005 {source="DOID:4028", source="MONDO:equivalentTo"}
xref: UMLS:C0263637 {source="MONDO:equivalentTo", source="MEDGEN:75528", source="MONDO:MEDGEN"}
is_a: MONDO:0002300 {source="MONDO:Entailed", source="NCIT:C3926/inferred"} ! dermis tumor
is_a: MONDO:0003110 {source="DOID:4028", source="NCIT:C3926"} ! skin hemangioma
is_a: MONDO:0005070 {source="MONDO:Redundant", source="MONDO:indirect"} ! neoplasm
is_a: MONDO:0016231 {source="Orphanet:95429"} ! capillary malformation
is_a: MONDO:0019293 {source="NCIT:C3926/inferred", source="Orphanet:95429"} ! skin vascular disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948", source="MONDO:0020031"} ! rare

[Term]
id: MONDO:0019804
name: tracheomalacia
def: "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." [Orphanet:95430]
subset: gard_rare {source="GARD:10515", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2028"}
subset: ordo_disorder {source="Orphanet:95430"}
subset: ordo_morphological_anomaly {source="Orphanet:95430"}
subset: orphanet_rare {source="Orphanet:95430"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital major airway collapse" EXACT [Orphanet:95430]
synonym: "Congenital Tracheomalacia" EXACT [NORD:2028]
synonym: "congenital tracheomalacia" EXACT [DOID:0060313]
synonym: "tracheomalacia, congenital" RELATED [GARD:0010515]
synonym: "type 1 tracheomalacia" RELATED [GARD:0010515]
xref: DOID:0060313 {source="MONDO:equivalentTo"}
xref: GARD:10515 {source="MONDO:GARD"}
xref: HP:0002779 {source="MONDO:otherHierarchy", source="DOID:0060313"}
xref: ICD10CM:Q32.0 {source="Orphanet:95430", source="Orphanet:95430/e", source="DOID:0060313", source="Orphanet:95430/specific"}
xref: icd11.foundation:1616705280 {source="Orphanet:95430", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10010654 {source="Orphanet:95430", source="Orphanet:95430/e"}
xref: MEDGEN:215296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C557675 {source="Orphanet:95430", source="Orphanet:95430/e", source="DOID:0060313"}
xref: MESH:D055090 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:2200195 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C98634 {source="MONDO:equivalentTo"}
xref: NORD:2028 {source="MONDO:NORD"}
xref: Orphanet:95430 {source="MONDO:equivalentTo", source="DOID:0060313"}
xref: SCTID:95467005 {source="MONDO:equivalentTo", source="DOID:0060313"}
xref: UMLS:C0948187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:215296"}
is_a: MONDO:0002567 {source="DOID:0060313", source="NCIT:C98634/inferred"} ! tracheal disorder
is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease

[Term]
id: MONDO:0019805
name: twin to twin transfusion syndrome
def: "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" [Orphanet:95431]
subset: gard_rare {source="GARD:325", source="MONDO:GARD"}
subset: nord_rare {source="NORD:2021", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95431"}
subset: orphanet_rare {source="Orphanet:95431"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fetal blood loss from fetal hemorrhage into co-twin" EXACT [DOID:13576]
synonym: "fetal hemorrhage into co-twin" EXACT [DOID:13576]
synonym: "fetal transfusion syndrome" RELATED [GARD:0000325]
synonym: "Feto-fetal transfusion syndrome" EXACT [Orphanet:95431]
synonym: "Fetofetal transfusion syndrome" RELATED [GARD:0000325]
synonym: "foetal blood loss from foetal haemorrhage into co-twin" EXACT OMO:0003005 []
synonym: "foetal haemorrhage into co-twin" EXACT OMO:0003005 []
synonym: "foetal transfusion syndrome" RELATED OMO:0003005 []
synonym: "placental transfusion syndrome" EXACT [NCIT:C113824]
synonym: "stuck Twin syndrome" EXACT [NCIT:C113824]
synonym: "TTTS" RELATED ABBREVIATION [GARD:0000325]
synonym: "Twin Anemia Polycythemia Sequence" EXACT [NORD:2021]
synonym: "Twin to twin transfusion" EXACT [DOID:13576]
synonym: "Twin-to-twin blood transfer" EXACT [DOID:13576]
synonym: "twin-to-twin transfusion syndrome" EXACT [MONDO:0007003]
synonym: "Twin-Twin transfusion syndrome" EXACT [NCIT:C113824]
xref: DOID:13576 {source="EFO:1001221", source="MONDO:equivalentTo"}
xref: EFO:1001221 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:325 {source="MONDO:GARD"}
xref: ICD10CM:O43.0 {source="Orphanet:95431/ntbt", source="Orphanet:95431"}
xref: ICD10CM:O43.02 {source="DOID:13576"}
xref: ICD10CM:O43.029 {source="DOID:13576"}
xref: MedDRA:10058328 {source="Orphanet:95431", source="Orphanet:95431/e"}
xref: MEDGEN:777055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005330 {source="EFO:1001221", source="MONDO:equivalentTo", source="DOID:13576"}
xref: NCIT:C113824 {source="MONDO:equivalentTo", source="DOID:13576"}
xref: NORD:2021 {source="MONDO:NORD"}
xref: Orphanet:95431 {source="MONDO:equivalentTo"}
xref: SCTID:13404009 {source="MONDO:equivalentTo", source="DOID:13576"}
xref: SCTID:237299001 {source="DOID:13576"}
xref: UMLS:C2909036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777055"}
is_a: MONDO:0001240 {source="DOID:13576", source="MESH:D005330"} ! neonatal anemia
is_a: MONDO:0005046 {source="Orphanet:95431"} ! immune system disorder
is_a: MONDO:0005570 {source="MONDO:Redundant", source="Orphanet:95431"} ! hematologic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare

[Term]
id: MONDO:0019806
name: primary progressive aphasia
def: "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)." [Orphanet:95432]
subset: disease_grouping
subset: gard_rare {source="GARD:8541", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95432"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mesulam syndrome" EXACT [Orphanet:95432]
synonym: "PPA" EXACT ABBREVIATION [OMIM:607485, Orphanet:95432]
synonym: "primary progressive aphasia syndrome" RELATED [GARD:0008541]
xref: DOID:0081388 {source="MONDO:equivalentTo"}
xref: EFO:0009053 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8541 {source="MONDO:GARD"}
xref: ICD10CM:G31.0 {source="Orphanet:95432", source="Orphanet:95432/ntbt"}
xref: MEDGEN:79466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018888 {source="Orphanet:95432", source="MONDO:equivalentTo", source="Orphanet:95432/e"}
xref: NCIT:C85024 {source="MONDO:equivalentTo"}
xref: OMIM:607485 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:95432 {source="MONDO:equivalentTo"}
xref: UMLS:C0282513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79466"}
is_a: MONDO:0005559 {source="https://github.com/monarch-initiative/mondo/issues/1498", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0019807
name: mesocardia
subset: gard_rare {source="GARD:19259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95443"}
subset: ordo_morphological_anomaly {source="Orphanet:95443"}
subset: orphanet_rare {source="Orphanet:95443"}
subset: rare
synonym: "mesocardia" EXACT [MONDO:ambiguous]
synonym: "mesocardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "Midline heart" EXACT [Orphanet:95443]
xref: GARD:19259 {source="MONDO:GARD"}
xref: HP:0011599 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q24.8 {source="Orphanet:95443", source="Orphanet:95443/ntbt"}
xref: icd11.foundation:1251061251 {source="Orphanet:95443", source="MONDO:equivalentTo"}
xref: ICD9:746.87 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:488817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95443 {source="MONDO:equivalentTo"}
xref: SCTID:16567006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488817"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "mesocardia (disease)" xsd:string

[Term]
id: MONDO:0019808
name: aortic valve atresia
def: "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure." [NCIT:C98818]
subset: gard_rare {source="GARD:19260", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:95448"}
subset: rare
synonym: "aortic valve atresia" EXACT [MONDO:ambiguous]
synonym: "aortic valve atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "congenital aortic valve atresia" EXACT [NCIT:C98818]
synonym: "congenital atresia of aortic valve" EXACT [NCIT:C98818]
xref: GARD:19260 {source="MONDO:GARD"}
xref: HP:0010883 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q23.0 {source="Orphanet:95448", source="Orphanet:95448/ntbt"}
xref: icd11.foundation:1700740306 {source="MONDO:equivalentTo", source="Orphanet:95448", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10066801 {source="Orphanet:95448", source="Orphanet:95448/e"}
xref: MEDGEN:451016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98818 {source="MONDO:equivalentTo"}
xref: Orphanet:95448 {source="MONDO:equivalentTo"}
xref: SCTID:51442005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:451016"}
is_a: MONDO:0003803 {source="NCIT:C98818"} ! aortic valve disorder
is_a: MONDO:0005453 {source="NCIT:C98818"} ! congenital heart disease
is_a: MONDO:0017735 {source="Orphanet:95448"} ! congenital aortic valve stenosis
property_value: IAO:0000589 "aortic valve atresia (disease)" xsd:string

[Term]
id: MONDO:0019809
name: congenital aortic valve insufficiency
def: "Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth." [NCIT:C103936]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital aortic insufficiency" EXACT [NCIT:C103936]
synonym: "congenital insufficiency of aortic valve" EXACT [NCIT:C103936]
synonym: "Congential aortic valve insufficiency" EXACT [NCIT:C103936]
xref: ICD10CM:Q23.1 {source="Orphanet:95449", source="Orphanet:95449/e"}
xref: ICD9:746.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10010370 {source="Orphanet:95449", source="Orphanet:95449/e"}
xref: MEDGEN:510599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C103936 {source="MONDO:equivalentTo"}
xref: Orphanet:95449 {source="MONDO:equivalentObsolete"}
xref: SCTID:28656008 {source="MONDO:equivalentTo"}
xref: UMLS:C0158617 {source="MONDO:equivalentTo", source="MEDGEN:510599", source="MONDO:MEDGEN"}
is_a: MONDO:0005648 {source="NCIT:C103936"} ! aortic valve insufficiency
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019810
name: toxic epidermal necrolysis
def: "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes." [Orphanet:95455]
subset: gard_rare {source="GARD:7743", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95455"}
subset: orphanet_rare {source="Orphanet:95455"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Lyell syndrome" NARROW [NCIT:C79777]
synonym: "Lyell's syndrome" NARROW [NCIT:C79777]
synonym: "SJS-TEN" EXACT [Orphanet:95455]
synonym: "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" RELATED [Orphanet:95455]
synonym: "TEN" EXACT ABBREVIATION [NCIT:C79777]
synonym: "toxic epidermolysis" EXACT [Orphanet:95455]
xref: EFO:0004775 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7743 {source="MONDO:GARD"}
xref: ICD10CM:L51.2 {source="Orphanet:95455", source="Orphanet:95455/e"}
xref: icd11.foundation:195467267 {source="Orphanet:95455", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:695.15 {source="EFO:0004775", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10044223 {source="Orphanet:95455", source="Orphanet:95455/e"}
xref: MEDGEN:4501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004816 {source="Orphanet:95455", source="Orphanet:95455/e"}
xref: NANDO:1200246 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201007 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C79777 {source="EFO:0004775", source="MONDO:equivalentTo"}
xref: Orphanet:95455 {source="MONDO:equivalentTo"}
xref: SCTID:23067006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014518 {source="MEDGEN:4501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017396 {source="Orphanet:95455"} ! toxic dermatosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis" xsd:anyURI {source="GARD:0007743"}

[Term]
id: MONDO:0019811
name: tricuspid valve agenesis
subset: gard_rare {source="GARD:19261", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95457"}
subset: ordo_morphological_anomaly {source="Orphanet:95457"}
subset: orphanet_rare {source="Orphanet:95457"}
subset: rare
synonym: "congenital unguarded tricuspid orifice" EXACT [Orphanet:95457]
xref: GARD:19261 {source="MONDO:GARD"}
xref: ICD10CM:Q22.4 {source="Orphanet:95457", source="MONDO:directSiblingOf", source="Orphanet:95457/ntbt"}
xref: MEDGEN:672653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95457 {source="MONDO:equivalentTo"}
xref: UMLS:C0685715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:672653"}
is_a: MONDO:0020289 {source="Orphanet:95457"} ! congenital tricuspid malformation

[Term]
id: MONDO:0019812
name: obsolete tricuspid valve prolapse
is_obsolete: true
replaced_by: MONDO:0007001

[Term]
id: MONDO:0019813
name: congenital tricuspid stenosis
subset: gard_rare {source="GARD:19262", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95459"}
subset: ordo_morphological_anomaly {source="Orphanet:95459"}
subset: orphanet_rare {source="Orphanet:95459"}
subset: rare
xref: GARD:19262 {source="MONDO:GARD"}
xref: ICD10CM:Q22.4 {source="MONDO:equivalentTo", source="Orphanet:95459", source="Orphanet:95459/e"}
xref: icd11.foundation:1996822362 {source="MONDO:equivalentTo", source="Orphanet:95459", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10010656 {source="Orphanet:95459", source="Orphanet:95459/e"}
xref: MEDGEN:539527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200962 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:95459 {source="MONDO:equivalentTo"}
xref: SCTID:36233006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265836 {source="MEDGEN:539527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020289 {source="Orphanet:95459"} ! congenital tricuspid malformation

[Term]
id: MONDO:0019814
name: straddling or overriding tricuspid valve
def: "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation." [Orphanet:95461]
subset: gard_rare {source="GARD:19263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95461"}
subset: ordo_morphological_anomaly {source="Orphanet:95461"}
subset: orphanet_rare {source="Orphanet:95461"}
subset: rare
xref: GARD:19263 {source="MONDO:GARD"}
xref: ICD10CM:Q22.8 {source="Orphanet:95461/ntbt", source="Orphanet:95461"}
xref: MEDGEN:1818564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95461 {source="MONDO:equivalentTo"}
xref: UMLS:C5761644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1818564"}
is_a: MONDO:0020289 {source="Orphanet:95461"} ! congenital tricuspid malformation

[Term]
id: MONDO:0019815
name: accessory tricuspid valve tissue
def: "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly." [Orphanet:95462]
subset: gard_rare {source="GARD:19264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95462"}
subset: ordo_morphological_anomaly {source="Orphanet:95462"}
subset: orphanet_rare {source="Orphanet:95462"}
subset: rare
xref: GARD:19264 {source="MONDO:GARD"}
xref: ICD10CM:Q22.8 {source="Orphanet:95462", source="Orphanet:95462/ntbt"}
xref: MEDGEN:1798036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95462 {source="MONDO:equivalentTo"}
xref: UMLS:C5566613 {source="MEDGEN:1798036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020289 {source="Orphanet:95462"} ! congenital tricuspid malformation

[Term]
id: MONDO:0019816
name: obsolete anomaly of the tricuspid subvalvular apparatus
subset: ordo_group_of_disorders {source="Orphanet:95463"}
xref: GARD:19265 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q22.8 {source="Orphanet:95463", source="Orphanet:95463/ntbt"}
xref: Orphanet:95463 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019817
name: congenital mitral valve insufficiency and/or stenosis
subset: disease_grouping
subset: gard_rare {source="GARD:19266", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95464"}
subset: rare
xref: GARD:19266 {source="MONDO:GARD"}
xref: ICD10CM:Q23 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q23.2 {source="Orphanet:95464/btnt", source="Orphanet:95464"}
xref: ICD10CM:Q23.3 {source="Orphanet:95464/btnt", source="Orphanet:95464"}
xref: MEDGEN:1842574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95464 {source="MONDO:equivalentTo"}
xref: UMLS:C5681577 {source="MONDO:equivalentTo", source="MEDGEN:1842574", source="MONDO:MEDGEN"}
is_a: MONDO:0016582 {source="Orphanet:95464"} ! congenital mitral malformation

[Term]
id: MONDO:0019818
name: cleft mitral valve
subset: gard_rare {source="GARD:19267", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95465"}
subset: ordo_morphological_anomaly {source="Orphanet:95465"}
subset: orphanet_rare {source="Orphanet:95465"}
subset: rare
xref: GARD:19267 {source="MONDO:GARD"}
xref: ICD10CM:Q23.3 {source="Orphanet:95465", source="Orphanet:95465/ntbt"}
xref: MEDGEN:473080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95465 {source="MONDO:equivalentTo"}
xref: UMLS:C0344772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473080"}
is_a: MONDO:0016582 {source="Orphanet:95465"} ! congenital mitral malformation

[Term]
id: MONDO:0019819
name: double-orifice mitral valve
subset: gard_rare {source="GARD:19268", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:95474"}
subset: rare
xref: GARD:19268 {source="MONDO:GARD"}
xref: ICD10CM:Q23.8 {source="Orphanet:95474", source="Orphanet:95474/ntbt"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:488869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95474 {source="MONDO:equivalentTo"}
xref: SCTID:253402005 {source="MONDO:equivalentTo"}
xref: UMLS:C0344770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488869"}
is_a: MONDO:0019818 {source="Orphanet:95474"} ! cleft mitral valve

[Term]
id: MONDO:0019820
name: univentricular cardiopathy
subset: disease_grouping
subset: gard_rare {source="GARD:19269", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95483"}
subset: rare
xref: GARD:19269 {source="MONDO:GARD"}
xref: MEDGEN:1843389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95483 {source="MONDO:equivalentTo"}
xref: UMLS:C5681576 {source="MEDGEN:1843389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019512 {source="Orphanet:95483"} ! congenital heart malformation

[Term]
id: MONDO:0019821
name: aneurysm or dilatation of ascending aorta
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_morphological_anomaly {source="Orphanet:95484"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: ICD10CM:Q25.4 {source="Orphanet:95484", source="Orphanet:95484/ntbt"}
xref: Orphanet:95484 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019822
name: obsolete arterial duct anomaly
subset: ordo_group_of_disorders {source="Orphanet:95485"}
synonym: "patent ductus arteriosus anomalies" EXACT [Orphanet:95485]
xref: GARD:19270 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:95485 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019823
name: premature closure of the arterial duct
def: "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids." [Orphanet:95486]
subset: gard_rare {source="GARD:19271", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95486"}
subset: ordo_morphological_anomaly {source="Orphanet:95486"}
subset: orphanet_rare {source="Orphanet:95486"}
subset: rare
synonym: "premature closure of the patent ductus arteriosus" EXACT [Orphanet:95486]
xref: GARD:19271 {source="MONDO:GARD"}
xref: ICD10CM:Q25.8 {source="Orphanet:95486/ntbt", source="Orphanet:95486"}
xref: MEDGEN:759377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95486 {source="MONDO:equivalentTo"}
xref: UMLS:C3532264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:759377"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019824
name: non-acquired pituitary hormone deficiency
subset: disease_grouping
subset: gard_rare {source="GARD:19272", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95488"}
subset: rare
xref: GARD:19272 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="Orphanet:95488/attributed", source="Orphanet:95488/ntbt", source="MONDO:relatedTo", source="Orphanet:95488"}
xref: MEDGEN:1842784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95488 {source="MONDO:equivalentTo"}
xref: UMLS:C5681572 {source="MEDGEN:1842784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder
is_a: MONDO:0015127 {source="Orphanet:95488"} ! pituitary deficiency
is_a: MONDO:0015514 {source="Orphanet:95488"} ! hereditary endocrine growth disease

[Term]
id: MONDO:0019825
name: congenital coronary artery aneurysm
def: "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure." [Orphanet:95491]
subset: gard_rare {source="GARD:19273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95491"}
subset: ordo_morphological_anomaly {source="Orphanet:95491"}
subset: orphanet_rare {source="Orphanet:95491"}
subset: rare
synonym: "congenital coronary aneurysm" EXACT [Orphanet:95491]
xref: GARD:19273 {source="MONDO:GARD"}
xref: ICD10CM:Q24.5 {source="Orphanet:95491/ntbt", source="Orphanet:95491"}
xref: MEDGEN:573848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95491 {source="MONDO:equivalentTo"}
xref: SCTID:204378009 {source="MONDO:equivalentTo"}
xref: UMLS:C0340627 {source="MEDGEN:573848", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015203 {source="Orphanet:95491"} ! coronary artery congenital malformation

[Term]
id: MONDO:0019826
name: obsolete abnormal origin or aberrant course of coronary artery
xref: ICD10CM:Q24.5 {source="Orphanet:95493/ntbt", source="Orphanet:95493"}
xref: Orphanet:95493 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019827
name: obsolete disease associated with non-acquired combined pituitary hormone deficiency
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: non-acquired combined pituitary hormone deficiency'
subset: ordo_group_of_disorders {source="Orphanet:95495"}
synonym: "secondary non-acquired combined pituitary hormone deficiency" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19274 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:95495 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0018762

[Term]
id: MONDO:0019828
name: pituitary stalk interruption syndrome
def: "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." [Orphanet:95496]
subset: gard_rare {source="GARD:13209", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95496"}
subset: ordo_morphological_anomaly {source="Orphanet:95496"}
subset: orphanet_rare {source="Orphanet:95496"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectopic neurohypophysis" EXACT [Orphanet:95496]
synonym: "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary" EXACT [NCIT:C121150]
synonym: "PSIS" EXACT ABBREVIATION [Orphanet:95496]
xref: GARD:13209 {source="MONDO:GARD"}
xref: ICD10CM:E23.6 {source="Orphanet:95496", source="Orphanet:95496/attributed", source="Orphanet:95496/ntbt"}
xref: MEDGEN:883774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121150 {source="MONDO:equivalentTo"}
xref: Orphanet:95496 {source="MONDO:equivalentTo"}
xref: SCTID:715727009 {source="MONDO:equivalentTo"}
xref: UMLS:C4053775 {source="MONDO:equivalentTo", source="MEDGEN:883774", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C121150"} ! syndromic disease
is_a: MONDO:0019824 {source="Orphanet:95496"} ! non-acquired pituitary hormone deficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome" xsd:anyURI {source="GARD:0013209"}

[Term]
id: MONDO:0019829
name: congenital anomaly of superior vena cava
subset: disease_grouping
subset: gard_rare {source="GARD:19275", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95498"}
subset: rare
synonym: "congenital anomaly of superior caval vein" EXACT [Orphanet:95498]
synonym: "congenital anomaly of the SVC" EXACT [Orphanet:95498]
xref: GARD:19275 {source="MONDO:GARD"}
xref: ICD10CM:Q26.9 {source="Orphanet:95498", source="Orphanet:95498/ntbt"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95498 {source="MONDO:equivalentTo"}
xref: SCTID:70195006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265928 {source="MEDGEN:539589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019830
name: congenital anomaly of the inferior vena cava
subset: disease_grouping
subset: gard_rare {source="GARD:19276", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:95499"}
subset: rare
synonym: "congenital anomaly of the inferior caval vein" EXACT [Orphanet:95499]
synonym: "congenital anomaly of the IVC" EXACT [Orphanet:95499]
xref: GARD:19276 {source="MONDO:GARD"}
xref: ICD10CM:Q26.9 {source="Orphanet:95499/ntbt", source="Orphanet:95499"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95499 {source="MONDO:equivalentTo"}
xref: SCTID:81577001 {source="MONDO:equivalentTo"}
xref: UMLS:C0265932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539592"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0019831
name: obsolete congenital anomaly of the coronary sinus
subset: ordo_group_of_disorders {source="Orphanet:95500"}
xref: GARD:19277 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q21.1 {source="Orphanet:95500/ntbt", source="Orphanet:95500"}
xref: Orphanet:95500 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019832
name: acquired pituitary hormone deficiency
def: "An instance of hypopituitarism that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
comment: Editor note: check this
subset: disease_grouping
subset: gard_rare {source="GARD:19278", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95502"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired hypopituitarism" EXACT [MONDO:patterns/acquired]
xref: GARD:19278 {source="MONDO:GARD"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95502", source="Orphanet:95502/ntbt"}
xref: MEDGEN:1843262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200313 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:95502 {source="MONDO:equivalentTo"}
xref: UMLS:C5681569 {source="MEDGEN:1843262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015127 {source="MONDO:Redundant", source="Orphanet:95502"} ! pituitary deficiency
intersection_of: MONDO:0005152 ! hypopituitarism
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0019833
name: obsolete pituitary hormone deficiency from tumoral origin
subset: ordo_group_of_disorders {source="Orphanet:95503"}
xref: GARD:19279 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:95503 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0015127

[Term]
id: MONDO:0019834
name: obsolete pituitary hormone deficiency from meningeal origin
subset: ordo_group_of_disorders {source="Orphanet:95505"}
xref: GARD:19280 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:95505 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0015127

[Term]
id: MONDO:0019835
name: primary hypophysitis
def: "Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease)." [MESH:D000069281]
subset: disease_grouping
subset: gard_rare {source="GARD:19281", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95506"}
subset: rare
synonym: "autoimmune hypophysitis" EXACT [Orphanet:95506]
synonym: "lymphocytic hypophysitis" EXACT [NCIT:C132055]
xref: GARD:19281 {source="MONDO:GARD"}
xref: ICD10CM:E23.6 {source="Orphanet:95506", source="Orphanet:95506/ntbt"}
xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000069281 {source="MONDO:equivalentTo"}
xref: NCIT:C132055 {source="MONDO:equivalentTo"}
xref: Orphanet:95506 {source="MONDO:equivalentTo"}
xref: SCTID:237706000 {source="MONDO:equivalentTo"}
xref: UMLS:C0342410 {source="MEDGEN:575013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000569 {source="MONDO:Entailed"} ! autoimmune disorder of endocrine system
is_a: MONDO:0019832 {source="Orphanet:95506"} ! acquired pituitary hormone deficiency
is_a: MONDO:0021156 {source="MESH:D000069281", source="MONDO:Redundant"} ! hypophysitis
relationship: disease_has_inflammation_site UBERON:0000007 ! pituitary gland

[Term]
id: MONDO:0019836
name: congenital anomaly of hepatic vein
subset: gard_rare {source="GARD:19282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95507"}
subset: ordo_morphological_anomaly {source="Orphanet:95507"}
subset: orphanet_rare {source="Orphanet:95507"}
subset: rare
xref: GARD:19282 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:95507/ntbt", source="Orphanet:95507"}
xref: MEDGEN:756237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95507 {source="MONDO:equivalentTo"}
xref: UMLS:C3163825 {source="MEDGEN:756237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019837
name: obsolete atrial appendage anomaly
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:95510"}
synonym: "atrial auricle anomaly" EXACT [Orphanet:95510]
xref: GARD:19283 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q20.8 {source="Orphanet:95510/ntbt", source="Orphanet:95510"}
xref: Orphanet:95510 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019838
name: adenohypophysitis
def: "An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period." [PMID:21592417]
subset: gard_rare {source="GARD:19284", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95512"}
subset: orphanet_rare {source="Orphanet:95512"}
subset: rare
synonym: "adenohypophysis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "anterior pituitary hypophysitis" EXACT [Orphanet:95512]
synonym: "inflammation of adenohypophysis" EXACT []
synonym: "lymphocytic adenohypophysitis" EXACT [PMID:21592417]
xref: GARD:19284 {source="MONDO:GARD"}
xref: ICD10CM:E23.6 {source="Orphanet:95512", source="Orphanet:95512/ntbt"}
xref: MEDGEN:1677203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95512 {source="MONDO:equivalentTo"}
xref: UMLS:C5190880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677203"}
is_a: MONDO:0019835 {source="Orphanet:95512"} ! primary hypophysitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002196 ! adenohypophysis

[Term]
id: MONDO:0019839
name: panhypophysitis
subset: gard_rare {source="GARD:19285", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95513"}
subset: orphanet_rare {source="Orphanet:95513"}
subset: rare
synonym: "Infundibulo-panhypophysitis" EXACT [Orphanet:95513]
xref: GARD:19285 {source="MONDO:GARD"}
xref: ICD10CM:E23.6 {source="Orphanet:95513", source="Orphanet:95513/ntbt"}
xref: MEDGEN:1674527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95513 {source="MONDO:equivalentTo"}
xref: UMLS:C5190786 {source="MEDGEN:1674527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019835 {source="Orphanet:95513"} ! primary hypophysitis

[Term]
id: MONDO:0019840
name: acropectororenal dysplasia
def: "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." [Orphanet:956]
subset: gard_rare {source="GARD:511", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:956"}
subset: rare
synonym: "acro-pectoro-renal field defect" RELATED [GARD:0000511]
synonym: "brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys" RELATED [GARD:0000511]
xref: GARD:511 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:956", source="Orphanet:956/attributed", source="Orphanet:956/ntbt"}
xref: Orphanet:956 {source="MONDO:equivalentObsolete", source="GARD:0000511"}
xref: SCTID:720413004 {source="MONDO:equivalentTo"}
is_a: MONDO:0015856 {source="Orphanet:956"} ! syndromic breast hypoplasia/aplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect" xsd:anyURI {source="GARD:0000511"}

[Term]
id: MONDO:0019841
name: obsolete pituitary hormone defiency from vascular origin
subset: ordo_group_of_disorders {source="Orphanet:95611"}
xref: GARD:19286 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95611", source="Orphanet:95611/ntbt"}
xref: Orphanet:95611 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0015127

[Term]
id: MONDO:0019842
name: obsolete pituitary apoplexy
is_obsolete: true
replaced_by: MONDO:0006908

[Term]
id: MONDO:0019843
name: obsolete pituitary hormone deficiency secondary to a granulomatous disease
subset: ordo_group_of_disorders {source="Orphanet:95617"}
xref: GARD:19288 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:95617 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0015127

[Term]
id: MONDO:0019844
name: obsolete pituitary hormone deficiency secondary to storage disease
subset: ordo_group_of_disorders {source="Orphanet:95618"}
xref: GARD:19289 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:95618 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0019832 {source="Orphanet:95618", source="https://orcid.org/0000-0001-5208-3432"} ! acquired pituitary hormone deficiency
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo-build/pull/120" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019845
name: iatrogenic or traumatic pituitary deficiency
subset: gard_rare {source="GARD:19290", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:95619"}
subset: orphanet_rare {source="Orphanet:95619"}
subset: rare
xref: GARD:19290 {source="MONDO:GARD"}
xref: ICD10CM:E23.1 {source="Orphanet:95619/ntbt", source="Orphanet:95619"}
xref: MEDGEN:575005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95619 {source="MONDO:equivalentTo"}
xref: UMLS:C0342400 {source="MEDGEN:575005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019832 {source="Orphanet:95619"} ! acquired pituitary hormone deficiency

[Term]
id: MONDO:0019846
name: acquired central diabetes insipidus
def: "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." [Orphanet:95626]
subset: gard_rare {source="GARD:19291", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:95626"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired CDI" EXACT [Orphanet:95626]
synonym: "acquired central diabetes insipidus" EXACT [MONDO:patterns/acquired]
synonym: "acquired neurogenic diabetes insipidus" EXACT [Orphanet:95626]
xref: GARD:19291 {source="MONDO:GARD"}
xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:95626/ntbt", source="Orphanet:95626"}
xref: MEDGEN:1843437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95626 {source="MONDO:equivalentTo"}
xref: UMLS:C5680256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843437"}
is_a: MONDO:0015790 {source="MONDO:Redundant", source="Orphanet:95626"} ! central diabetes insipidus
intersection_of: MONDO:0015790 ! central diabetes insipidus
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0019847
name: obsolete congenital adrenal hypoplasia of maternal cause
comment: Deprecated in Orphanet.
xref: ICD10CM:E27.1 {source="Orphanet:95701", source="Orphanet:95701/ntbt"}
xref: Orphanet:95701 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0010264

[Term]
id: MONDO:0019848
name: posterior hypospadias
def: "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." [Orphanet:95706]
subset: gard_rare {source="GARD:16840", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95706"}
subset: ordo_morphological_anomaly {source="Orphanet:95706"}
subset: orphanet_rare {source="Orphanet:95706"}
subset: rare
synonym: "perineal, scrotal or penoscrotal hypospadias" EXACT [Orphanet:95706]
xref: GARD:16840 {source="MONDO:GARD"}
xref: ICD10CM:Q54.2 {source="Orphanet:95706/btnt", source="Orphanet:95706"}
xref: ICD10CM:Q54.3 {source="Orphanet:95706/btnt", source="Orphanet:95706"}
xref: MEDGEN:1684864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95706 {source="MONDO:equivalentTo"}
xref: UMLS:C5231010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684864"}
is_a: MONDO:0003150 {source="https://orcid.org/0000-0002-5002-8648"} ! male reproductive system disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019849
name: isolated micropenis
subset: gard_rare {source="GARD:19292", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95707"}
subset: ordo_morphological_anomaly {source="Orphanet:95707"}
subset: orphanet_rare {source="Orphanet:95707"}
subset: rare
xref: GARD:19292 {source="MONDO:GARD"}
xref: ICD10CM:Q55.6 {source="Orphanet:95707/ntbt", source="Orphanet:95707"}
xref: MEDGEN:1843275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95707 {source="MONDO:equivalentTo"}
xref: UMLS:C5681560 {source="MEDGEN:1843275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="https://orcid.org/0000-0002-5002-8648"} ! male reproductive system disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019850
name: obsolete precocious puberty
is_obsolete: true
replaced_by: MONDO:0000088

[Term]
id: MONDO:0019851
name: acquired primary ovarian failure
def: "An instance of primary ovarian failure that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: gard_rare {source="GARD:19293", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95709"}
subset: rare
synonym: "acquired premature ovarian failure" RELATED [Orphanet:95709]
synonym: "acquired primary ovarian failure" EXACT [MONDO:patterns/acquired]
xref: GARD:19293 {source="MONDO:GARD"}
xref: ICD10CM:E28.8 {source="Orphanet:95709", source="Orphanet:95709/attributed", source="Orphanet:95709/ntbt"}
xref: MEDGEN:929209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95709 {source="MONDO:equivalentTo"}
xref: SCTID:717954003 {source="MONDO:equivalentTo"}
xref: UMLS:C4303540 {source="MEDGEN:929209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005387 ! primary ovarian failure
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0015514 {source="Orphanet:95709", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary endocrine growth disease
relationship: excluded_subClassOf MONDO:0019590 {source="Orphanet:95709", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare endocrine growth disease

[Term]
id: MONDO:0019852
name: inherited primary ovarian failure
def: "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:19294", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:95710"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary primary ovarian failure" EXACT [MONDO:patterns/hereditary]
synonym: "inherited POI" EXACT [https://orcid.org/0000-0002-0587-4693, PMID:17970776]
synonym: "inherited premature ovarian failure" EXACT [OMIMPS:311360]
synonym: "inherited primary ovarian insufficiency" EXACT [https://orcid.org/0000-0002-0587-4693, PMID:17970776]
synonym: "non-acquired premature ovarian failure" RELATED []
xref: GARD:19294 {source="MONDO:GARD"}
xref: ICD10CM:E28.3 {source="MONDO:relatedTo", source="Orphanet:95710", source="Orphanet:95710/attributed", source="Orphanet:95710/ntbt"}
xref: MEDGEN:443920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:311360 {source="MONDO:equivalentTo"}
xref: Orphanet:95710 {source="MONDO:equivalentTo"}
xref: UMLS:C2930861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443920"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005151 {source="MONDO:0019590-obsoleted"} ! endocrine system disorder
is_a: MONDO:0015514 {source="Orphanet:95710"} ! hereditary endocrine growth disease
is_a: MONDO:0021124 {source="PMID:32310493", source="https://orcid.org/0000-0002-0587-4693"} ! female infertility
intersection_of: MONDO:0005387 ! primary ovarian failure
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:311360"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019853
name: obsolete congenital hypothyroidism due to developmental anomaly
def: "OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:95711]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.
subset: ordo_group_of_disorders {source="Orphanet:95711"}
synonym: "primary congenital hypothyroidism due to developmental anomaly" EXACT [Orphanet:95711]
xref: GARD:19295 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E03.1 {source="Orphanet:95711", source="Orphanet:95711/attributed", source="Orphanet:95711/ntbt"}
xref: Orphanet:95711 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019854
name: thyroid ectopia
def: "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95712]
subset: gard_rare {source="GARD:16841", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95712"}
subset: ordo_morphological_anomaly {source="Orphanet:95712"}
subset: orphanet_rare {source="Orphanet:95712"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16841 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:95712", source="Orphanet:95712/attributed", source="Orphanet:95712/ntbt"}
xref: MEDGEN:78591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200330 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:95712 {source="MONDO:equivalentTo"}
xref: UMLS:C0266283 {source="MEDGEN:78591", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009043 ! generalized resistance to thyroid hormone
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0019855
name: athyreosis
def: "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95713]
subset: gard_rare {source="GARD:16842", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95713"}
subset: ordo_morphological_anomaly {source="Orphanet:95713"}
subset: orphanet_rare {source="Orphanet:95713"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16842 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:95713", source="Orphanet:95713/attributed", source="Orphanet:95713/ntbt"}
xref: MEDGEN:155447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200331 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:95713 {source="MONDO:equivalentTo"}
xref: UMLS:C0749420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155447"}
is_a: MONDO:0009043 ! generalized resistance to thyroid hormone
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0019856
name: obsolete primary congenital hypothyroidism without thyroid developmental anomaly
def: "OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." [Orphanet:95714]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary congenital hypothyroidism'
subset: ordo_group_of_disorders {source="Orphanet:95714"}
xref: GARD:19296 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E03.0 {source="Orphanet:95714/attributed", source="Orphanet:95714/ntbt", source="Orphanet:95714"}
xref: ICD10CM:E03.1 {source="Orphanet:95714/attributed", source="Orphanet:95714/ntbt", source="Orphanet:95714"}
xref: Orphanet:95714 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0016409

[Term]
id: MONDO:0019857
name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
def: "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent." [Orphanet:95715]
subset: gard_rare {source="GARD:19297", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95715"}
subset: orphanet_rare {source="Orphanet:95715"}
subset: rare
xref: GARD:19297 {source="MONDO:GARD"}
xref: ICD10CM:P72.2 {source="Orphanet:95715", source="Orphanet:95715/ntbt"}
xref: MEDGEN:903571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95715 {source="MONDO:equivalentTo"}
xref: SCTID:717333002 {source="MONDO:equivalentTo"}
xref: UMLS:C4273914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903571"}
is_a: MONDO:0016555 {source="Orphanet:95715"} ! transient congenital hypothyroidism due to maternal factor
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019858
name: idiopathic congenital hypothyroidism
def: "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown." [Orphanet:95717]
subset: gard_rare {source="GARD:19298", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95717"}
subset: orphanet_rare {source="Orphanet:95717"}
subset: rare
xref: GARD:19298 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:95717/attributed", source="Orphanet:95717/ntbt", source="Orphanet:95717"}
xref: MEDGEN:901252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95717 {source="MONDO:equivalentTo"}
xref: SCTID:717334008 {source="MONDO:equivalentTo"}
xref: UMLS:C4273913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901252"}
is_a: MONDO:0005420 {source="Orphanet:95717"} ! hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0019859
name: obsolete congenital thyroid malformation without hypothyroidism
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: thyroid gland disease'
subset: ordo_group_of_disorders {source="Orphanet:95718"}
xref: GARD:19299 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q89.2 {source="Orphanet:95718/ntbt", source="Orphanet:95718"}
xref: Orphanet:95718 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
is_obsolete: true
consider: MONDO:0003240

[Term]
id: MONDO:0019860
name: thyroid hemiagenesis
def: "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95719]
subset: gard_rare {source="GARD:16844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95719"}
subset: ordo_morphological_anomaly {source="Orphanet:95719"}
subset: orphanet_rare {source="Orphanet:95719"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16844 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:95719/attributed", source="Orphanet:95719/ntbt", source="Orphanet:95719"}
xref: MEDGEN:868785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95719 {source="MONDO:equivalentTo"}
xref: SCTID:715734006 {source="MONDO:equivalentTo"}
xref: UMLS:C4023190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:868785"}
is_a: MONDO:0003240 ! thyroid gland disorder
is_a: MONDO:0009043 ! generalized resistance to thyroid hormone
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0019861
name: thyroid hypoplasia
def: "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." [Orphanet:95720]
subset: gard_rare {source="GARD:8426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95720"}
subset: ordo_morphological_anomaly {source="Orphanet:95720"}
subset: orphanet_rare {source="Orphanet:95720"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:8426 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:95720/attributed", source="Orphanet:95720/ntbt", source="Orphanet:95720"}
xref: MedDRA:10065938 {source="Orphanet:95720", source="Orphanet:95720/e"}
xref: MEDGEN:57720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:95720 {source="MONDO:equivalentTo"}
xref: UMLS:C0151516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57720"}
is_a: MONDO:0003240 ! thyroid gland disorder
is_a: MONDO:0009043 ! generalized resistance to thyroid hormone
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0019862
name: levocardia
def: "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation." [NCIT:C111647]
subset: gard_rare {source="GARD:12032", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:95854"}
subset: ordo_morphological_anomaly {source="Orphanet:95854"}
subset: orphanet_rare {source="Orphanet:95854"}
subset: rare
synonym: "Isolated levocardia with situs inversus" NARROW [GARD:0012032]
synonym: "levocardia-situs inversus" EXACT [Orphanet:95854]
synonym: "Situs inversus with levocardia" NARROW [GARD:0012032]
xref: GARD:12032 {source="MONDO:GARD"}
xref: ICD10CM:Q24.1 {source="MONDO:equivalentTo", source="Orphanet:95854", source="Orphanet:95854/e"}
xref: icd11.foundation:848076902 {source="MONDO:equivalentTo", source="Orphanet:95854", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10071015 {source="Orphanet:95854", source="Orphanet:95854/e"}
xref: MEDGEN:7331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007979 {source="MONDO:equivalentTo", source="Orphanet:95854", source="Orphanet:95854/e"}
xref: NCIT:C111647 {source="MONDO:equivalentTo"}
xref: Orphanet:95854 {source="MONDO:equivalentTo"}
xref: SCTID:205769006 {source="MONDO:equivalentTo"}
xref: UMLS:C0023569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7331"}
is_a: MONDO:0018677 {source="Orphanet:95854"} ! visceral heterotaxy

[Term]
id: MONDO:0019863
name: obsolete acro-renal-ocular syndrome
comment: These terms are equivalent.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1201" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011812

[Term]
id: MONDO:0019864
name: tetrasomy 21
def: "Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21." [Orphanet:96055]
subset: gard_rare {source="GARD:12480", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96055"}
subset: ordo_malformation_syndrome {source="Orphanet:96055"}
subset: orphanet_rare {source="Orphanet:96055"}
subset: rare
synonym: "Isochromosome 21" EXACT [Orphanet:96055]
synonym: "tetrasomy type 21" EXACT [MONDORULE:2, Orphanet:96055]
xref: GARD:12480 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96055/attributed", source="Orphanet:96055/ntbt", source="Orphanet:96055"}
xref: MEDGEN:1640242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96055 {source="MONDO:equivalentTo"}
xref: SCTID:764690001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640242"}
is_a: MONDO:0030502 {source="https://orcid.org/0000-0001-5208-3432"} ! tetrasomy
intersection_of: MONDO:0030502 ! tetrasomy
intersection_of: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21" xsd:anyURI {source="GARD:0012480"}

[Term]
id: MONDO:0019865
name: mosaic trisomy 4
def: "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated." [Orphanet:96059]
subset: gard_rare {source="GARD:19300", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96059"}
subset: ordo_malformation_syndrome {source="Orphanet:96059"}
subset: orphanet_rare {source="Orphanet:96059"}
subset: rare
synonym: "Mosaic trisomy chromosome 4" EXACT [Orphanet:96059]
synonym: "Mosaic trisomy type 4" EXACT [MONDORULE:1, Orphanet:96059]
synonym: "trisomy 4 mosaicism" EXACT [Orphanet:96059]
xref: GARD:19300 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:96059", source="Orphanet:96059/attributed", source="Orphanet:96059/ntbt"}
xref: MEDGEN:1637768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96059 {source="MONDO:equivalentTo"}
xref: SCTID:764628000 {source="MONDO:equivalentTo"}
xref: UMLS:C4272018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637768"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr4 ! chromosome 4 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0019866
name: mosaic trisomy 5
def: "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated." [Orphanet:96060]
subset: gard_rare {source="GARD:19301", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96060"}
subset: ordo_malformation_syndrome {source="Orphanet:96060"}
subset: orphanet_rare {source="Orphanet:96060"}
subset: rare
synonym: "Mosaic trisomy chromosome 5" EXACT [Orphanet:96060]
synonym: "Mosaic trisomy type 5" EXACT [MONDORULE:1, Orphanet:96060]
synonym: "trisomy 5 mosaicism" EXACT [Orphanet:96060]
xref: GARD:19301 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:96060", source="Orphanet:96060/attributed", source="Orphanet:96060/ntbt"}
xref: MEDGEN:419849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537762 {source="MONDO:equivalentTo"}
xref: Orphanet:96060 {source="MONDO:equivalentTo"}
xref: SCTID:764629008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931603 {source="MONDO:equivalentTo", source="MEDGEN:419849", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr5 ! chromosome 5 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0019867
name: mosaic trisomy 8
def: "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies." [Orphanet:96061]
subset: gard_rare {source="GARD:5359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96061"}
subset: ordo_malformation_syndrome {source="Orphanet:96061"}
subset: orphanet_rare {source="Orphanet:96061"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mosaic trisomy chromosome 8" RELATED [GARD:0005359]
synonym: "Mosaic trisomy type 8" EXACT [MONDORULE:1, Orphanet:96061]
synonym: "trisomy 8 mosaicism" RELATED [GARD:0005359]
synonym: "Warkany syndrome" EXACT [Orphanet:96061]
xref: GARD:5359 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:96061/attributed", source="Orphanet:96061/ntbt", source="Orphanet:96061"}
xref: MedDRA:10053916 {source="Orphanet:96061/e", source="Orphanet:96061"}
xref: MEDGEN:797340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537940 {source="Orphanet:96061/e", source="MONDO:equivalentTo", source="Orphanet:96061"}
xref: Orphanet:96061 {source="MONDO:equivalentTo"}
xref: SCTID:717335009 {source="MONDO:equivalentTo"}
xref: UMLS:C1096527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:797340"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8" xsd:anyURI {source="GARD:0005359"}

[Term]
id: MONDO:0019868
name: mosaic trisomy 10
def: "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia." [Orphanet:96063]
subset: gard_rare {source="GARD:19302", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96063"}
subset: ordo_malformation_syndrome {source="Orphanet:96063"}
subset: orphanet_rare {source="Orphanet:96063"}
subset: rare
synonym: "chromosome 10, uniparental disomy" RELATED [GARD:0005406]
synonym: "mosaic trisomy 10" EXACT [GARD:0005406]
synonym: "Mosaic trisomy chromosome 10" EXACT [Orphanet:96063]
synonym: "Mosaic trisomy type 10" EXACT [MONDORULE:2, Orphanet:96063]
synonym: "trisomy 10 mosaicism" EXACT [Orphanet:96063]
synonym: "uniparental disomy of 10" RELATED [GARD:0005406]
xref: GARD:19302 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:96063/attributed", source="Orphanet:96063/ntbt", source="Orphanet:96063"}
xref: MEDGEN:419163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538292 {source="MONDO:equivalentTo"}
xref: Orphanet:96063 {source="MONDO:equivalentTo"}
xref: SCTID:764461004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931794 {source="MEDGEN:419163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr10 ! chromosome 10 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0019869
name: mosaic trisomy 22
def: "Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described." [https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22]
subset: gard_rare {source="GARD:6085", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:949"}
subset: ordo_disorder {source="Orphanet:96068"}
subset: ordo_malformation_syndrome {source="Orphanet:96068"}
subset: orphanet_rare {source="Orphanet:96068"}
subset: rare
synonym: "Mosaic trisomy chromosome 22" RELATED [GARD:0006085]
synonym: "Mosaic trisomy type 22" EXACT [MONDORULE:2, Orphanet:96068]
synonym: "trisomy 22 mosaicism" RELATED [GARD:0006085]
xref: GARD:6085 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:96068", source="Orphanet:96068/attributed", source="Orphanet:96068/ntbt"}
xref: MEDGEN:419045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536796 {source="Orphanet:96068", source="MONDO:equivalentTo", source="Orphanet:96068/e"}
xref: NORD:949 {source="MONDO:NORD"}
xref: Orphanet:96068 {source="MONDO:equivalentTo"}
xref: SCTID:764625002 {source="MONDO:equivalentTo"}
xref: UMLS:C2931326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419045"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22" xsd:anyURI {source="GARD:0006085"}

[Term]
id: MONDO:0019870
name: distal trisomy 1p36
def: "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." [Orphanet:96069]
subset: gard_rare {source="GARD:19303", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96069"}
subset: ordo_malformation_syndrome {source="Orphanet:96069"}
subset: orphanet_rare {source="Orphanet:96069"}
subset: rare
synonym: "distal duplication 1p36" EXACT [Orphanet:96069]
synonym: "distal trisomy type 1p36" EXACT [MONDORULE:7, Orphanet:96069]
synonym: "telomeric duplication 1p36" EXACT [Orphanet:96069]
synonym: "trisomy 1pter" EXACT [Orphanet:96069]
xref: GARD:19303 {source="MONDO:GARD"}
xref: MEDGEN:1646544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96069 {source="MONDO:equivalentTo"}
xref: SCTID:766053003 {source="MONDO:equivalentTo"}
xref: UMLS:C4707665 {source="MEDGEN:1646544", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0017012 {source="Orphanet:96069"} ! partial duplication of the short arm of chromosome 1
relationship: disease_arises_from_structure CHR:9606-chr1p36 {source="https://orcid.org/0000-0002-4142-7153"} ! 1p36 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019871
name: distal trisomy 2p
def: "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies." [Orphanet:96070]
subset: gard_rare {source="GARD:19304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96070"}
subset: ordo_malformation_syndrome {source="Orphanet:96070"}
subset: orphanet_rare {source="Orphanet:96070"}
subset: rare
synonym: "distal duplication 2p" EXACT [Orphanet:96070]
synonym: "distal trisomy type 2p" EXACT [MONDORULE:4, Orphanet:96070]
synonym: "telomeric duplication 2p" EXACT [Orphanet:96070]
synonym: "trisomy 2pter" EXACT [Orphanet:96070]
xref: GARD:19304 {source="MONDO:GARD"}
xref: MEDGEN:1646233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96070 {source="MONDO:equivalentTo"}
xref: SCTID:764518004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706937 {source="MEDGEN:1646233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016939 {source="Orphanet:96070"} ! partial duplication of the short arm of chromosome 2
relationship: disease_arises_from_structure CHR:9606-chr2p {source="https://orcid.org/0000-0002-4142-7153"} ! 2p (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:96070", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019872
name: distal trisomy 3p
def: "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers." [Orphanet:96071]
subset: gard_rare {source="GARD:19305", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96071"}
subset: ordo_malformation_syndrome {source="Orphanet:96071"}
subset: orphanet_rare {source="Orphanet:96071"}
subset: rare
synonym: "distal duplication 3p" EXACT [Orphanet:96071]
synonym: "distal trisomy type 3p" EXACT [MONDORULE:4, Orphanet:96071]
synonym: "telomeric duplication 3p" EXACT [Orphanet:96071]
synonym: "trisomy 3pter" EXACT [Orphanet:96071]
xref: GARD:19305 {source="MONDO:GARD"}
xref: MEDGEN:1637379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96071 {source="MONDO:equivalentTo"}
xref: SCTID:764519007 {source="MONDO:equivalentTo"}
xref: UMLS:C4706938 {source="MEDGEN:1637379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016940 {source="Orphanet:96071"} ! partial duplication of the short arm of chromosome 3
relationship: disease_arises_from_structure CHR:9606-chr3p {source="https://orcid.org/0000-0002-4142-7153"} ! 3p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019873
name: 4p16.3 microduplication syndrome
def: "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported." [Orphanet:96072]
subset: gard_rare {source="GARD:19306", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96072"}
subset: ordo_malformation_syndrome {source="Orphanet:96072"}
subset: orphanet_rare {source="Orphanet:96072"}
subset: rare
synonym: "distal duplication 4p" EXACT [Orphanet:96072]
synonym: "distal trisomy 4p" EXACT [Orphanet:96072]
synonym: "telomeric duplication 4p" EXACT [Orphanet:96072]
synonym: "trisomy 4pter" EXACT [Orphanet:96072]
xref: GARD:19306 {source="MONDO:GARD"}
xref: MEDGEN:1387521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96072 {source="MONDO:equivalentTo"}
xref: SCTID:726706008 {source="MONDO:equivalentTo"}
xref: UMLS:C4512053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387521"}
is_a: MONDO:0016941 {source="Orphanet:96072"} ! partial duplication of the short arm of chromosome 4
is_a: MONDO:0019716 ! overgrowth syndrome
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr4p16.3 ! 4p16.3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019874
name: distal trisomy 7p
def: "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." [Orphanet:96074]
subset: gard_rare {source="GARD:19307", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96074"}
subset: ordo_malformation_syndrome {source="Orphanet:96074"}
subset: orphanet_rare {source="Orphanet:96074"}
subset: rare
synonym: "distal duplication 7p" EXACT [Orphanet:96074]
synonym: "distal trisomy type 7p" EXACT [MONDORULE:4, Orphanet:96074]
synonym: "telomeric duplication 7p" EXACT [Orphanet:96074]
synonym: "trisomy 7pter" EXACT [Orphanet:96074]
xref: GARD:19307 {source="MONDO:GARD"}
xref: MEDGEN:1641655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96074 {source="MONDO:equivalentTo"}
xref: SCTID:763276000 {source="MONDO:equivalentTo"}
xref: UMLS:C4706364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641655"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016944 {source="Orphanet:96074"} ! partial duplication of the short arm of chromosome 7
relationship: disease_arises_from_structure CHR:9606-chr7p {source="https://orcid.org/0000-0002-4142-7153"} ! 7p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019875
name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
subset: gard_rare {source="GARD:19308", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:96076"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:96076"}
subset: rare
xref: GARD:19308 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:96076/attributed", source="Orphanet:96076/ntbt", source="Orphanet:96076"}
xref: MEDGEN:1826126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96076 {source="MONDO:equivalentTo"}
xref: UMLS:C5681581 {source="MEDGEN:1826126", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0007534 {source="Orphanet:96076"} ! Beckwith-Wiedemann syndrome
is_a: MONDO:0016948 {source="Orphanet:96076"} ! partial duplication of the short arm of chromosome 11
relationship: disease_arises_from_structure CHR:9606-chr11p15 {source="https://orcid.org/0000-0002-4142-7153"} ! 11p15 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019876
name: 8p inverted duplication/deletion syndrome
def: "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." [Orphanet:96092]
subset: gard_rare {source="GARD:19309", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96092"}
subset: ordo_malformation_syndrome {source="Orphanet:96092"}
subset: orphanet_rare {source="Orphanet:96092"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Invdupdel(8p)" EXACT [Orphanet:96092]
synonym: "inverted 8p duplication/deletion syndrome" EXACT [Orphanet:96092]
xref: GARD:19309 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96092", source="Orphanet:96092/attributed", source="Orphanet:96092/ntbt"}
xref: MEDGEN:906101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96092 {source="MONDO:equivalentTo"}
xref: SCTID:718188007 {source="MONDO:equivalentTo"}
xref: UMLS:C4273676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906101"}
is_a: MONDO:0700015 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 8 disorder
relationship: disease_arises_from_structure CHR:9606-chr8p {source="https://orcid.org/0000-0002-4142-7153"} ! 8p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI

[Term]
id: MONDO:0019877
name: distal trisomy 2q
def: "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed." [Orphanet:96094]
subset: gard_rare {source="GARD:19310", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96094"}
subset: ordo_malformation_syndrome {source="Orphanet:96094"}
subset: orphanet_rare {source="Orphanet:96094"}
subset: rare
synonym: "distal duplication 2q" EXACT [Orphanet:96094]
synonym: "distal trisomy type 2q" EXACT [MONDORULE:4, Orphanet:96094]
synonym: "telomeric duplication 2q" EXACT [Orphanet:96094]
synonym: "trisomy 2qter" EXACT [Orphanet:96094]
xref: GARD:19310 {source="MONDO:GARD"}
xref: MEDGEN:1634043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96094 {source="MONDO:equivalentTo"}
xref: SCTID:763272003 {source="MONDO:equivalentTo"}
xref: UMLS:C4706361 {source="MEDGEN:1634043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016953 {source="Orphanet:96094"} ! partial duplication of the long arm of chromosome 2
relationship: disease_arises_from_structure CHR:9606-chr2q {source="https://orcid.org/0000-0002-4142-7153"} ! 2q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019878
name: 3q26 microduplication syndrome
def: "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations." [Orphanet:96095]
subset: gard_rare {source="GARD:19311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96095"}
subset: ordo_malformation_syndrome {source="Orphanet:96095"}
subset: orphanet_rare {source="Orphanet:96095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cornelia de Lange-like syndrome" EXACT [Orphanet:96095]
synonym: "dup(3)(q26)" EXACT [Orphanet:96095]
synonym: "dup(3q) syndrome" EXACT [Orphanet:96095]
synonym: "trisomy 3q26" EXACT [Orphanet:96095]
xref: GARD:19311 {source="MONDO:GARD"}
xref: MEDGEN:1670584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96095 {source="MONDO:equivalentTo"}
xref: UMLS:C4755319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670584"}
is_a: MONDO:0016954 {source="Orphanet:96095"} ! partial duplication of the long arm of chromosome 3
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr3q26 ! 3q26 (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:96095", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019879
name: distal trisomy 4q
def: "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported." [Orphanet:96096]
subset: gard_rare {source="GARD:19312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96096"}
subset: ordo_malformation_syndrome {source="Orphanet:96096"}
subset: orphanet_rare {source="Orphanet:96096"}
subset: rare
synonym: "distal duplication 4q" EXACT [Orphanet:96096]
synonym: "distal trisomy type 4q" EXACT [MONDORULE:4, Orphanet:96096]
synonym: "telomeric duplication 4q" EXACT [Orphanet:96096]
synonym: "trisomy 4qter" EXACT [Orphanet:96096]
xref: GARD:19312 {source="MONDO:GARD"}
xref: MEDGEN:1633392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96096 {source="MONDO:equivalentTo"}
xref: SCTID:763273008 {source="MONDO:equivalentTo"}
xref: UMLS:C4706362 {source="MEDGEN:1633392", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016955 {source="Orphanet:96096"} ! partial duplication of the long arm of chromosome 4
relationship: disease_arises_from_structure CHR:9606-chr4q {source="https://orcid.org/0000-0002-4142-7153"} ! 4q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019880
name: distal trisomy 5q
def: "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)." [Orphanet:96097]
subset: gard_rare {source="GARD:19313", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96097"}
subset: ordo_malformation_syndrome {source="Orphanet:96097"}
subset: orphanet_rare {source="Orphanet:96097"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal duplication 5q" EXACT [Orphanet:96097]
synonym: "distal trisomy type 5q" EXACT [MONDORULE:4, Orphanet:96097]
synonym: "telomeric duplication 5q" EXACT [Orphanet:96097]
synonym: "trisomy 5qter" EXACT [Orphanet:96097]
xref: GARD:19313 {source="MONDO:GARD"}
xref: MEDGEN:1646186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96097 {source="MONDO:equivalentTo"}
xref: SCTID:763274002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706363 {source="MEDGEN:1646186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016956 {source="Orphanet:96097"} ! partial trisomy of the long arm of chromosome 5
relationship: disease_arises_from_structure CHR:9606-chr5q {source="https://orcid.org/0000-0002-4142-7153"} ! 5q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019881
name: distal trisomy 6q
def: "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." [Orphanet:96098]
subset: gard_rare {source="GARD:19314", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:959"}
subset: ordo_disorder {source="Orphanet:96098"}
subset: ordo_malformation_syndrome {source="Orphanet:96098"}
subset: orphanet_rare {source="Orphanet:96098"}
subset: rare
synonym: "Chromosome 6, Partial Trisomy 6q" EXACT [NORD:959]
synonym: "distal duplication 6q" EXACT [Orphanet:96098]
synonym: "distal trisomy type 6q" EXACT [MONDORULE:4, Orphanet:96098]
synonym: "telomeric duplication 6q" EXACT [Orphanet:96098]
synonym: "trisomy 6qter" EXACT [Orphanet:96098]
xref: GARD:19314 {source="MONDO:GARD"}
xref: MEDGEN:162773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537810 {source="MONDO:equivalentTo"}
xref: NORD:959 {source="MONDO:NORD"}
xref: Orphanet:96098 {source="MONDO:equivalentTo"}
xref: SCTID:763275001 {source="MONDO:equivalentTo"}
xref: UMLS:C0795817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162773"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016957 {source="Orphanet:96098"} ! partial duplication of the long arm of chromosome 6
relationship: disease_arises_from_structure CHR:9606-chr6q {source="https://orcid.org/0000-0002-4142-7153"} ! 6q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019882
name: distal trisomy 8q
def: "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)." [Orphanet:96100]
subset: gard_rare {source="GARD:19315", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96100"}
subset: ordo_malformation_syndrome {source="Orphanet:96100"}
subset: orphanet_rare {source="Orphanet:96100"}
subset: rare
synonym: "distal duplication 8q" EXACT [Orphanet:96100]
synonym: "distal trisomy type 8q" EXACT [MONDORULE:4, Orphanet:96100]
synonym: "telomeric duplication 8q" EXACT [Orphanet:96100]
synonym: "trisomy 8qter" EXACT [Orphanet:96100]
xref: GARD:19315 {source="MONDO:GARD"}
xref: MEDGEN:1637956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96100 {source="MONDO:equivalentTo"}
xref: SCTID:763277009 {source="MONDO:equivalentTo"}
xref: UMLS:C4706365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637956"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016959 {source="Orphanet:96100"} ! partial duplication of the long arm of chromosome 8
relationship: disease_arises_from_structure CHR:9606-chr8q {source="https://orcid.org/0000-0002-4142-7153"} ! 8q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019883
name: distal trisomy 9q
def: "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed." [Orphanet:96101]
subset: gard_rare {source="GARD:19316", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96101"}
subset: ordo_malformation_syndrome {source="Orphanet:96101"}
subset: orphanet_rare {source="Orphanet:96101"}
subset: rare
synonym: "distal duplication 9q" EXACT [Orphanet:96101]
synonym: "distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96101]
synonym: "telomeric duplication 9q" EXACT [Orphanet:96101]
synonym: "trisomy 9qter" EXACT [Orphanet:96101]
xref: GARD:19316 {source="MONDO:GARD"}
xref: MEDGEN:1645202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96101 {source="MONDO:equivalentTo"}
xref: SCTID:764520001 {source="MONDO:equivalentTo"}
xref: UMLS:C4706939 {source="MEDGEN:1645202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016960 {source="Orphanet:96101"} ! partial trisomy of the long arm of chromosome 9
relationship: disease_arises_from_structure CHR:9606-chr9q {source="https://orcid.org/0000-0002-4142-7153"} ! 9q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019884
name: distal trisomy 10q
def: "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." [Orphanet:96102]
subset: gard_rare {source="GARD:19317", source="MONDO:GARD"}
subset: nord_rare {source="NORD:934", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96102"}
subset: ordo_malformation_syndrome {source="Orphanet:96102"}
subset: orphanet_rare {source="Orphanet:96102"}
subset: rare
synonym: "Chromosome 10, Distal Trisomy 10q" EXACT [NORD:934]
synonym: "distal duplication 10q" EXACT [Orphanet:96102]
synonym: "distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:96102]
synonym: "telomeric duplication 10q" EXACT [Orphanet:96102]
synonym: "trisomy 10qter" EXACT [Orphanet:96102]
xref: GARD:19317 {source="MONDO:GARD"}
xref: MEDGEN:419480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538087 {source="Orphanet:96102", source="MONDO:equivalentTo", source="Orphanet:96102/e"}
xref: NORD:934 {source="MONDO:NORD"}
xref: Orphanet:96102 {source="MONDO:equivalentTo"}
xref: SCTID:718689000 {source="MONDO:equivalentTo"}
xref: UMLS:C2931728 {source="MEDGEN:419480", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016961 {source="Orphanet:96102"} ! partial duplication of the long arm of chromosome 10
relationship: disease_arises_from_structure CHR:9606-chr10q {source="https://orcid.org/0000-0002-4142-7153"} ! 10q (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:96102", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019885
name: distal trisomy 11q
def: "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported." [Orphanet:96103]
subset: gard_rare {source="GARD:19318", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:937"}
subset: ordo_disorder {source="Orphanet:96103"}
subset: ordo_malformation_syndrome {source="Orphanet:96103"}
subset: orphanet_rare {source="Orphanet:96103"}
subset: rare
synonym: "Chromosome 11, Partial Trisomy 11q" EXACT [NORD:937]
synonym: "distal duplication 11q" EXACT [Orphanet:96103]
synonym: "distal trisomy type 11q" EXACT [MONDORULE:4, Orphanet:96103]
synonym: "telomeric duplication 11q" EXACT [Orphanet:96103]
synonym: "trisomy 11qter" EXACT [Orphanet:96103]
xref: GARD:19318 {source="MONDO:GARD"}
xref: MEDGEN:419166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538294 {source="Orphanet:96103", source="MONDO:equivalentTo", source="Orphanet:96103/e"}
xref: NORD:937 {source="MONDO:NORD"}
xref: Orphanet:96103 {source="MONDO:equivalentTo"}
xref: SCTID:764447009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419166"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0022173 {source="Orphanet:96103"} ! chromosome 11q trisomy
relationship: disease_arises_from_structure CHR:9606-chr11q {source="https://orcid.org/0000-0002-4142-7153"} ! 11q (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019886
name: distal trisomy 13q
def: "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported." [Orphanet:96105]
subset: gard_rare {source="GARD:19319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96105"}
subset: ordo_malformation_syndrome {source="Orphanet:96105"}
subset: orphanet_rare {source="Orphanet:96105"}
subset: rare
synonym: "distal duplication 13q" EXACT [Orphanet:96105]
synonym: "distal trisomy type 13q" EXACT [MONDORULE:4, Orphanet:96105]
synonym: "telomeric duplication 13q" EXACT [Orphanet:96105]
synonym: "trisomy 13qter" EXACT [Orphanet:96105]
xref: GARD:19319 {source="MONDO:GARD"}
xref: MEDGEN:1639680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96105 {source="MONDO:equivalentTo"}
xref: SCTID:764454003 {source="MONDO:equivalentTo"}
xref: UMLS:C4706933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639680"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0022177 {source="Orphanet:96105"} ! chromosome 13q trisomy
relationship: disease_arises_from_structure CHR:9606-chr13q {source="https://orcid.org/0000-0002-4142-7153"} ! 13q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019887
name: distal trisomy 16q
def: "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported." [Orphanet:96106]
subset: gard_rare {source="GARD:19320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96106"}
subset: ordo_malformation_syndrome {source="Orphanet:96106"}
subset: orphanet_rare {source="Orphanet:96106"}
subset: rare
synonym: "distal duplication 16q" EXACT [Orphanet:96106]
synonym: "distal trisomy type 16q" EXACT [MONDORULE:4, Orphanet:96106]
synonym: "telomeric duplication 16q" EXACT [Orphanet:96106]
synonym: "trisomy 16qter" EXACT [Orphanet:96106]
xref: GARD:19320 {source="MONDO:GARD"}
xref: MEDGEN:1633675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96106 {source="MONDO:equivalentTo"}
xref: SCTID:764459008 {source="MONDO:equivalentTo"}
xref: UMLS:C4706934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633675"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016966 {source="Orphanet:96106"} ! partial trisomy of the long arm of chromosome 16
relationship: disease_arises_from_structure CHR:9606-chr16q {source="https://orcid.org/0000-0002-4142-7153"} ! 16q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019888
name: distal trisomy 20q
def: "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." [Orphanet:96107]
subset: gard_rare {source="GARD:19321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96107"}
subset: ordo_malformation_syndrome {source="Orphanet:96107"}
subset: orphanet_rare {source="Orphanet:96107"}
subset: rare
synonym: "distal duplication 20q" EXACT [Orphanet:96107]
synonym: "distal trisomy type 20q" EXACT [MONDORULE:4, Orphanet:96107]
synonym: "telomeric duplication 20q" EXACT [Orphanet:96107]
synonym: "trisomy 20qter" EXACT [Orphanet:96107]
xref: GARD:19321 {source="MONDO:GARD"}
xref: MEDGEN:1636588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96107 {source="MONDO:equivalentTo"}
xref: SCTID:764500002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706935 {source="MONDO:equivalentTo", source="MEDGEN:1636588", source="MONDO:MEDGEN"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016970 {source="Orphanet:96107"} ! partial trisomy of the long arm of chromosome 20
relationship: disease_arises_from_structure CHR:9606-chr20q {source="https://orcid.org/0000-0002-4142-7153"} ! 20q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019889
name: distal trisomy 22q
def: "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported." [Orphanet:96109]
subset: gard_rare {source="GARD:19322", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96109"}
subset: ordo_malformation_syndrome {source="Orphanet:96109"}
subset: orphanet_rare {source="Orphanet:96109"}
subset: rare
synonym: "distal duplication 22q" EXACT [Orphanet:96109]
synonym: "distal trisomy type 22q" EXACT [MONDORULE:4, Orphanet:96109]
synonym: "telomeric duplication 22q" EXACT [Orphanet:96109]
synonym: "trisomy 22qter" EXACT [Orphanet:96109]
xref: GARD:19322 {source="MONDO:GARD"}
xref: MEDGEN:1642344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96109 {source="MONDO:equivalentTo"}
xref: SCTID:764512003 {source="MONDO:equivalentTo"}
xref: UMLS:C4706936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642344"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016972 {source="Orphanet:96109"} ! partial duplication of the long arm of chromosome 22
relationship: disease_arises_from_structure CHR:9606-chr22q {source="https://orcid.org/0000-0002-4142-7153"} ! 22q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019890
name: non-distal trisomy 9q
def: "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." [Orphanet:96112]
subset: gard_rare {source="GARD:19323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96112"}
subset: ordo_malformation_syndrome {source="Orphanet:96112"}
subset: orphanet_rare {source="Orphanet:96112"}
subset: rare
synonym: "non-distal duplication 9q" EXACT [Orphanet:96112]
synonym: "non-distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96112]
synonym: "non-telomeric trisomy 9q" EXACT [Orphanet:96112]
xref: GARD:19323 {source="MONDO:GARD"}
xref: MEDGEN:1631139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96112 {source="MONDO:equivalentTo"}
xref: SCTID:764997000 {source="MONDO:equivalentTo"}
xref: UMLS:C4707261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631139"}
is_a: MONDO:0000762 {source="https://orcid.org/0000-0002-4142-7153"} ! syndrome caused by partial chromosomal duplication
is_a: MONDO:0016960 {source="Orphanet:96112"} ! partial trisomy of the long arm of chromosome 9
relationship: disease_arises_from_structure CHR:9606-chr9q {source="https://orcid.org/0000-0002-4142-7153"} ! 9q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0019891
name: monosomy 22
subset: gard_rare {source="GARD:19324", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96123"}
subset: ordo_malformation_syndrome {source="Orphanet:96123"}
subset: orphanet_rare {source="Orphanet:96123"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Del(22)" EXACT [Orphanet:96123]
synonym: "deletion 22" EXACT [Orphanet:96123]
synonym: "monosomy type 22" EXACT [MONDORULE:2, Orphanet:96123]
xref: GARD:19324 {source="MONDO:GARD"}
xref: ICD10CM:Q93.0 {source="Orphanet:96123", source="Orphanet:96123/attributed", source="Orphanet:96123/ntbt"}
xref: MEDGEN:208644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36461 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"}
xref: Orphanet:96123 {source="MONDO:equivalentTo"}
xref: UMLS:C0795878 {source="MEDGEN:208644", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020639 ! monosomy
intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (Human)

[Term]
id: MONDO:0019892
name: distal monosomy 7p
subset: gard_rare {source="GARD:19325", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96126"}
subset: ordo_malformation_syndrome {source="Orphanet:96126"}
subset: orphanet_rare {source="Orphanet:96126"}
subset: rare
synonym: "distal deletion 7p" EXACT [Orphanet:96126]
synonym: "distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96126]
synonym: "monosomy 7pter" EXACT [Orphanet:96126]
synonym: "telomeric deletion 7p" EXACT [Orphanet:96126]
xref: GARD:19325 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96126/attributed", source="Orphanet:96126/ntbt", source="Orphanet:96126"}
xref: MEDGEN:1683031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96126 {source="MONDO:equivalentTo"}
xref: UMLS:C5190515 {source="MEDGEN:1683031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016889 {source="Orphanet:96126"} ! partial deletion of the short arm of chromosome 7
relationship: disease_arises_from_structure CHR:9606-chr7p {source="https://orcid.org/0000-0002-4142-7153"} ! 7p (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0019893
name: distal monosomy 19p13.3
def: "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)." [Orphanet:96129]
subset: gard_rare {source="GARD:19326", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96129"}
subset: ordo_malformation_syndrome {source="Orphanet:96129"}
subset: orphanet_rare {source="Orphanet:96129"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal deletion 19p" EXACT [Orphanet:96129]
synonym: "telomeric deletion 19p" EXACT [Orphanet:96129]
xref: GARD:19326 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96129", source="Orphanet:96129/attributed", source="Orphanet:96129/ntbt"}
xref: MEDGEN:1665859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96129 {source="MONDO:equivalentTo"}
xref: UMLS:C4749277 {source="MEDGEN:1665859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016897 {source="Orphanet:96129"} ! partial deletion of the short arm of chromosome 19
relationship: disease_arises_from_structure CHR:9606-chr19p13.3 {source="https://orcid.org/0000-0002-4142-7153"} ! 19p13.3 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0019894
name: obsolete non-distal monosomy 7p
comment: Obsolete in Orphanet
synonym: "non-distal deletion 7p" EXACT [Orphanet:96136]
synonym: "non-distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96136]
synonym: "non-telomeric monosomy 7p" EXACT [Orphanet:96136]
xref: ICD10CM:Q93.5 {source="Orphanet:96136", source="Orphanet:96136/attributed", source="Orphanet:96136/ntbt"}
xref: Orphanet:96136 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0016889

[Term]
id: MONDO:0019895
name: distal monosomy 4q
subset: gard_rare {source="GARD:19327", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96145"}
subset: ordo_malformation_syndrome {source="Orphanet:96145"}
subset: orphanet_rare {source="Orphanet:96145"}
subset: rare
synonym: "distal deletion 4q" EXACT [Orphanet:96145]
synonym: "distal monosomy type 4q" EXACT [MONDORULE:4, Orphanet:96145]
synonym: "monosomy 4qter" EXACT [Orphanet:96145]
synonym: "telomeric deletion 4q" EXACT [Orphanet:96145]
xref: GARD:19327 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96145", source="Orphanet:96145/attributed", source="Orphanet:96145/ntbt"}
xref: MEDGEN:1680190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96145 {source="MONDO:equivalentTo"}
xref: UMLS:C5190514 {source="MEDGEN:1680190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016903 {source="Orphanet:96145"} ! partial deletion of the long arm of chromosome 4
relationship: disease_arises_from_structure CHR:9606-chr4q {source="https://orcid.org/0000-0002-4142-7153"} ! 4q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0019896
name: Kleefstra syndrome due to 9q34 microdeletion
subset: gard_rare {source="GARD:16846", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:96147"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:96147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "9q subtelomeric deletion syndrome" EXACT [DECIPHER:52, Orphanet:96147]
synonym: "9qSTDS" EXACT [Orphanet:96147]
synonym: "Kleefstra syndrome due to 9q subtelomeric deletion" EXACT [Orphanet:96147]
synonym: "Kleefstra syndrome due to del(9)(q34)" EXACT [Orphanet:96147]
synonym: "Kleefstra syndrome due to monosomy 9q34" EXACT [Orphanet:96147]
xref: DECIPHER:52 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"}
xref: GARD:16846 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:96147", source="Orphanet:96147/attributed", source="Orphanet:96147/ntbt"}
xref: Orphanet:96147 {source="MONDO:equivalentTo"}
is_a: MONDO:0016908 {source="Orphanet:96147"} ! partial monosomy of the long arm of chromosome 9
is_a: MONDO:0027407 {source="Orphanet:96147", source="https://github.com/monarch-initiative/mondo/issues/1063"} ! Kleefstra syndrome 1
relationship: disease_arises_from_structure CHR:9606-chr9q34 {source="https://orcid.org/0000-0002-4142-7153"} ! 9q34 (Human)
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0012455 {source="https://orcid.org/0000-0001-5208-3432"} ! Kleefstra syndrome
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6311" xsd:anyURI

[Term]
id: MONDO:0019897
name: distal monosomy 12q
subset: gard_rare {source="GARD:19328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96149"}
subset: ordo_malformation_syndrome {source="Orphanet:96149"}
subset: orphanet_rare {source="Orphanet:96149"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "distal deletion 12q" EXACT [Orphanet:96149]
synonym: "distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96149]
synonym: "monosomy 12qter" EXACT [Orphanet:96149]
synonym: "telomeric deletion 12q" EXACT [Orphanet:96149]
xref: GARD:19328 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96149/attributed", source="Orphanet:96149/ntbt", source="Orphanet:96149"}
xref: MEDGEN:1761314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96149 {source="MONDO:equivalentTo"}
xref: UMLS:C5438460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761314"}
is_a: MONDO:0016877 {source="Orphanet:96149"} ! partial deletion of the long arm of chromosome 12
relationship: disease_arises_from_structure CHR:9606-chr12q {source="https://orcid.org/0000-0002-4142-7153"} ! 12q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0019898
name: distal monosomy 14q
def: "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." [Orphanet:96150]
subset: gard_rare {source="GARD:19329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96150"}
subset: ordo_malformation_syndrome {source="Orphanet:96150"}
subset: orphanet_rare {source="Orphanet:96150"}
subset: rare
synonym: "distal deletion 14q" EXACT [Orphanet:96150]
synonym: "distal monosomy type 14q" EXACT [MONDORULE:4, Orphanet:96150]
synonym: "telomeric deletion 14q" EXACT [Orphanet:96150]
xref: GARD:19329 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96150", source="Orphanet:96150/attributed", source="Orphanet:96150/ntbt"}
xref: MEDGEN:1656422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96150 {source="MONDO:equivalentTo"}
xref: UMLS:C4749276 {source="MEDGEN:1656422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016912 {source="Orphanet:96150"} ! partial deletion of the long arm of chromosome 14
relationship: disease_arises_from_structure CHR:9606-chr14q {source="https://orcid.org/0000-0002-4142-7153"} ! 14q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0019899
name: obsolete distal monosomy 20q
synonym: "distal deletion 20q" EXACT [Orphanet:96152]
synonym: "distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96152]
synonym: "monosomy 20qter" EXACT [Orphanet:96152]
synonym: "telomeric deletion 20q" EXACT [Orphanet:96152]
xref: ICD10CM:Q93.5 {source="Orphanet:96152/attributed", source="Orphanet:96152/ntbt", source="Orphanet:96152"}
xref: Orphanet:96152 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5767" xsd:anyURI
is_obsolete: true
consider: MONDO:0016843

[Term]
id: MONDO:0019900
name: non-distal monosomy 12q
subset: gard_rare {source="GARD:19330", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96160"}
subset: ordo_malformation_syndrome {source="Orphanet:96160"}
subset: orphanet_rare {source="Orphanet:96160"}
subset: rare
synonym: "non-distal deletion 12q" EXACT [Orphanet:96160]
synonym: "non-distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96160]
synonym: "non-telomeric monosomy 12q" EXACT [Orphanet:96160]
xref: GARD:19330 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96160/attributed", source="Orphanet:96160/ntbt", source="Orphanet:96160"}
xref: MEDGEN:1679764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96160 {source="MONDO:equivalentTo"}
xref: UMLS:C5190525 {source="MEDGEN:1679764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016877 {source="Orphanet:96160"} ! partial deletion of the long arm of chromosome 12
relationship: disease_arises_from_structure CHR:9606-chr12q {source="https://orcid.org/0000-0002-4142-7153"} ! 12q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0019901
name: non-distal monosomy 20q
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:96164"}
subset: rare
synonym: "non-distal deletion 20q" EXACT [Orphanet:96164]
synonym: "non-distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96164]
synonym: "non-telomeric monosomy 20q" EXACT [Orphanet:96164]
xref: ICD10CM:Q93.5 {source="Orphanet:96164/attributed", source="Orphanet:96164/ntbt", source="Orphanet:96164"}
xref: Orphanet:96164 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0016918 {source="Orphanet:96164"} ! partial deletion of the long arm of chromosome 20
relationship: disease_arises_from_structure CHR:9606-chr20q {source="https://orcid.org/0000-0002-4142-7153"} ! 20q (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0019902
name: monosomy 13q34
def: "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." [Orphanet:96168]
subset: gard_rare {source="GARD:16847", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96168"}
subset: ordo_malformation_syndrome {source="Orphanet:96168"}
subset: orphanet_rare {source="Orphanet:96168"}
subset: rare
synonym: "Del(13)(q34)" EXACT [Orphanet:96168]
synonym: "distal deletion 13q34" EXACT [Orphanet:96168]
synonym: "monosomy type 13q34" EXACT [MONDORULE:7, Orphanet:96168]
synonym: "subtelomeric deletion 13q34" EXACT [Orphanet:96168]
xref: GARD:16847 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:96168/attributed", source="Orphanet:96168/ntbt", source="Orphanet:96168"}
xref: MEDGEN:1631901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96168 {source="MONDO:equivalentTo"}
xref: SCTID:766716004 {source="MONDO:equivalentTo"}
xref: UMLS:C4707797 {source="MEDGEN:1631901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0016911 {source="Orphanet:96168"} ! partial deletion of the long arm of chromosome 13
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr13q34 ! 13q34 (Human)
relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:96168", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0019903
name: ring chromosome 2
def: "Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism)." [Orphanet:96171]
subset: gard_rare {source="GARD:10837", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96171"}
subset: ordo_malformation_syndrome {source="Orphanet:96171"}
subset: orphanet_rare {source="Orphanet:96171"}
subset: rare
synonym: "chromosome 2 ring" RELATED [GARD:0010837]
synonym: "R2" RELATED ABBREVIATION [GARD:0010837]
synonym: "Ring 2" RELATED [GARD:0010837]
synonym: "Ring chromosome 2 syndrome" RELATED [Orphanet:96171]
synonym: "Ring chromosome type 2" EXACT [MONDORULE:1, Orphanet:96171]
synonym: "rose cluster 2" EXACT [NCIT:C121981]
xref: GARD:10837 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:96171/attributed", source="Orphanet:96171/ntbt", source="Orphanet:96171"}
xref: MEDGEN:1642621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121981 {source="MONDO:equivalentTo"}
xref: Orphanet:96171 {source="MONDO:equivalentTo"}
xref: SCTID:765485000 {source="MONDO:equivalentTo"}
xref: UMLS:C4707448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642621"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr2 ! chromosome 2 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2" xsd:anyURI {source="GARD:0010837"}

[Term]
id: MONDO:0019904
name: ring chromosome 3
def: "Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias." [Orphanet:96172]
subset: gard_rare {source="GARD:10839", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96172"}
subset: ordo_malformation_syndrome {source="Orphanet:96172"}
subset: orphanet_rare {source="Orphanet:96172"}
subset: rare
synonym: "chromosome 3 ring" RELATED [GARD:0010839]
synonym: "R3" RELATED ABBREVIATION [GARD:0010839]
synonym: "Ring 3" RELATED [GARD:0010839]
synonym: "Ring chromosome 3 syndrome" RELATED [Orphanet:96172]
synonym: "Ring chromosome type 3" EXACT [MONDORULE:1, Orphanet:96172]
synonym: "rose cluster 3" EXACT [NCIT:C121982]
xref: GARD:10839 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:96172", source="Orphanet:96172/attributed", source="Orphanet:96172/ntbt"}
xref: MEDGEN:1643677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121982 {source="MONDO:equivalentTo"}
xref: Orphanet:96172 {source="MONDO:equivalentTo"}
xref: SCTID:765486004 {source="MONDO:equivalentTo"}
xref: UMLS:C4707449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643677"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr3 ! chromosome 3 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3" xsd:anyURI {source="GARD:0010839"}

[Term]
id: MONDO:0019905
name: ring chromosome 9
def: "Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies." [Orphanet:96173]
subset: gard_rare {source="GARD:1348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:962"}
subset: ordo_disorder {source="Orphanet:96173"}
subset: ordo_malformation_syndrome {source="Orphanet:96173"}
subset: orphanet_rare {source="Orphanet:96173"}
subset: rare
synonym: "Chromosome 9 Ring" EXACT [NORD:962]
synonym: "chromosome 9 ring" RELATED [GARD:0001348]
synonym: "r9" RELATED [GARD:0001348]
synonym: "Ring 9" EXACT [GARD:0001348, Orphanet:96173]
synonym: "Ring chromosome 9 syndrome" RELATED [Orphanet:96173]
synonym: "Ring chromosome type 9" EXACT [MONDORULE:1, Orphanet:96173]
xref: GARD:1348 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:96173/attributed", source="Orphanet:96173/ntbt", source="Orphanet:96173"}
xref: MEDGEN:539244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538022 {source="Orphanet:96173/e", source="MONDO:equivalentTo", source="Orphanet:96173"}
xref: NORD:962 {source="MONDO:NORD"}
xref: Orphanet:96173 {source="MONDO:equivalentTo"}
xref: SCTID:60650002 {source="MONDO:equivalentTo"}
xref: UMLS:C0265430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539244"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9" xsd:anyURI {source="GARD:0001348"}

[Term]
id: MONDO:0019906
name: ring chromosome 11
def: "Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported." [Orphanet:96175]
subset: gard_rare {source="GARD:10846", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96175"}
subset: ordo_malformation_syndrome {source="Orphanet:96175"}
subset: orphanet_rare {source="Orphanet:96175"}
subset: rare
synonym: "chromosome 11 ring" RELATED [GARD:0010846]
synonym: "r(11) syndrome" EXACT [Orphanet:96175]
synonym: "r11" RELATED [GARD:0010846]
synonym: "RC11" EXACT ABBREVIATION [Orphanet:96175]
synonym: "Ring 11" RELATED [GARD:0010846]
synonym: "Ring chromosome 11 syndrome" RELATED [Orphanet:96175]
synonym: "Ring chromosome type 11" EXACT [MONDORULE:2, Orphanet:96175]
xref: GARD:10846 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:96175/attributed", source="Orphanet:96175/ntbt", source="Orphanet:96175"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96175 {source="MONDO:equivalentTo"}
xref: SCTID:111310003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539256"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr11 ! chromosome 11 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11" xsd:anyURI {source="GARD:0010846"}

[Term]
id: MONDO:0019907
name: ring chromosome 13
def: "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." [Orphanet:96176]
subset: gard_rare {source="GARD:6069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96176"}
subset: ordo_malformation_syndrome {source="Orphanet:96176"}
subset: orphanet_rare {source="Orphanet:96176"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 13 ring" RELATED [GARD:0006069]
synonym: "R13" RELATED ABBREVIATION [GARD:0006069]
synonym: "Ring 13" RELATED [GARD:0006069]
synonym: "Ring chromosome 13 syndrome" RELATED [Orphanet:96176]
synonym: "Ring chromosome type 13" EXACT [MONDORULE:2, Orphanet:96176]
xref: GARD:6069 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:96176/attributed", source="Orphanet:96176/ntbt", source="Orphanet:96176"}
xref: MEDGEN:444146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538303 {source="Orphanet:96176/e", source="MONDO:equivalentTo", source="Orphanet:96176"}
xref: Orphanet:96176 {source="MONDO:equivalentTo"}
xref: SCTID:726723004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931808 {source="MEDGEN:444146", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr13 ! chromosome 13 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13" xsd:anyURI {source="GARD:0006069"}

[Term]
id: MONDO:0019908
name: ring chromosome 15
def: "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists." [https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15]
subset: gard_rare {source="GARD:1328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:941"}
subset: ordo_disorder {source="Orphanet:96177"}
subset: ordo_malformation_syndrome {source="Orphanet:96177"}
subset: orphanet_rare {source="Orphanet:96177"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chromosome 15 Ring" EXACT [NORD:941]
synonym: "chromosome 15 ring" RELATED [GARD:0001328]
synonym: "R15" RELATED ABBREVIATION [GARD:0001328]
synonym: "Ring 15" RELATED [GARD:0001328]
synonym: "Ring chromosome 15 syndrome" RELATED [Orphanet:96177]
synonym: "Ring chromosome type 15" EXACT [MONDORULE:2, Orphanet:96177]
xref: GARD:1328 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:96177", source="Orphanet:96177/attributed", source="Orphanet:96177/ntbt"}
xref: MEDGEN:1646359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538035 {source="Orphanet:96177", source="MONDO:equivalentTo", source="Orphanet:96177/e"}
xref: NORD:941 {source="MONDO:NORD"}
xref: Orphanet:96177 {source="MONDO:equivalentTo"}
xref: SCTID:763405000 {source="MONDO:equivalentTo"}
xref: UMLS:C0795855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646359"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr15 ! chromosome 15 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15" xsd:anyURI {source="GARD:0001328"}

[Term]
id: MONDO:0019909
name: ring chromosome 16
def: "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature." [https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16]
subset: gard_rare {source="GARD:10855", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96178"}
subset: ordo_malformation_syndrome {source="Orphanet:96178"}
subset: orphanet_rare {source="Orphanet:96178"}
subset: rare
synonym: "chromosome 16 ring" RELATED [GARD:0010855]
synonym: "R16" RELATED ABBREVIATION [GARD:0010855]
synonym: "Ring 16" RELATED [GARD:0010855]
synonym: "Ring chromosome 16 syndrome" RELATED [Orphanet:96178]
synonym: "Ring chromosome type 16" EXACT [MONDORULE:2, Orphanet:96178]
xref: GARD:10855 {source="MONDO:GARD"}
xref: ICD10CM:Q93.2 {source="Orphanet:96178", source="Orphanet:96178/attributed", source="Orphanet:96178/ntbt"}
xref: MEDGEN:1641955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96178 {source="MONDO:equivalentTo"}
xref: SCTID:763406004 {source="MONDO:equivalentTo"}
xref: UMLS:C4706449 {source="MEDGEN:1641955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16" xsd:anyURI {source="GARD:0010855"}

[Term]
id: MONDO:0019910
name: maternal uniparental disomy of chromosome 2
def: "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96179]
subset: gard_rare {source="GARD:19331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96179"}
subset: ordo_malformation_syndrome {source="Orphanet:96179"}
subset: orphanet_rare {source="Orphanet:96179"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 2" EXACT [MONDORULE:1, Orphanet:96179]
synonym: "UPD(2)mat" EXACT [Orphanet:96179]
xref: GARD:19331 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96179/attributed", source="Orphanet:96179/ntbt", source="Orphanet:96179"}
xref: MEDGEN:1631626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96179 {source="MONDO:equivalentTo"}
xref: SCTID:766237006 {source="MONDO:equivalentTo"}
xref: UMLS:C4707718 {source="MEDGEN:1631626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr2 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 2 (Human)

[Term]
id: MONDO:0019911
name: maternal uniparental disomy of chromosome 4
def: "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96180]
subset: gard_rare {source="GARD:19332", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96180"}
subset: ordo_malformation_syndrome {source="Orphanet:96180"}
subset: orphanet_rare {source="Orphanet:96180"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 4" EXACT [MONDORULE:1, Orphanet:96180]
synonym: "UPD(4)mat" EXACT [Orphanet:96180]
xref: GARD:19332 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96180", source="Orphanet:96180/attributed", source="Orphanet:96180/ntbt"}
xref: MEDGEN:1644554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96180 {source="MONDO:equivalentTo"}
xref: SCTID:766238001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644554"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr4 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 4 (Human)

[Term]
id: MONDO:0019912
name: maternal uniparental disomy of chromosome 6
def: "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." [Orphanet:96181]
subset: gard_rare {source="GARD:19333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96181"}
subset: ordo_malformation_syndrome {source="Orphanet:96181"}
subset: orphanet_rare {source="Orphanet:96181"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96181]
synonym: "UPD(6)mat" EXACT [Orphanet:96181]
xref: GARD:19333 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96181", source="Orphanet:96181/attributed", source="Orphanet:96181/ntbt"}
xref: MEDGEN:1638411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96181 {source="MONDO:equivalentTo"}
xref: SCTID:766239009 {source="MONDO:equivalentTo"}
xref: UMLS:C4707720 {source="MEDGEN:1638411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr6 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 6 (Human)

[Term]
id: MONDO:0019913
name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
def: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." [Orphanet:96182]
subset: gard_rare {source="GARD:19334", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:96182"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:96182"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96182]
synonym: "UPD(7)mat" EXACT [Orphanet:96182]
xref: GARD:19334 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:96182/attributed", source="Orphanet:96182/ntbt", source="Orphanet:96182"}
xref: MEDGEN:1826074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96182 {source="MONDO:equivalentTo"}
xref: UMLS:C5680247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826074"}
is_a: MONDO:0008394 {source="Orphanet:96182"} ! Silver-Russell syndrome
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr7 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 7 (Human)

[Term]
id: MONDO:0019914
name: maternal uniparental disomy of chromosome 9
def: "Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:96183]
subset: gard_rare {source="GARD:19335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96183"}
subset: ordo_malformation_syndrome {source="Orphanet:96183"}
subset: orphanet_rare {source="Orphanet:96183"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:96183]
synonym: "UPD(9)mat" EXACT [Orphanet:96183]
xref: GARD:19335 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96183", source="Orphanet:96183/attributed", source="Orphanet:96183/ntbt"}
xref: MEDGEN:1634619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96183 {source="MONDO:equivalentTo"}
xref: SCTID:766240006 {source="MONDO:equivalentTo"}
xref: UMLS:C4707721 {source="MEDGEN:1634619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr9 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 9 (Human)

[Term]
id: MONDO:0019915
name: maternal uniparental disomy of chromosome 14
def: "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)." [Orphanet:96184]
subset: gard_rare {source="GARD:16848", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:96184"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:96184"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96184]
synonym: "UPD(14)mat" EXACT [Orphanet:96184]
xref: GARD:16848 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96184/attributed", source="Orphanet:96184/ntbt", source="Orphanet:96184"}
xref: MEDGEN:1841563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96184 {source="MONDO:equivalentTo"}
xref: UMLS:C5680248 {source="MEDGEN:1841563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014541 {source="Orphanet:96184"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr14 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 14 (Human)

[Term]
id: MONDO:0019916
name: maternal uniparental disomy of chromosome 16
subset: gard_rare {source="GARD:19336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96185"}
subset: ordo_malformation_syndrome {source="Orphanet:96185"}
subset: orphanet_rare {source="Orphanet:96185"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 16" EXACT [MONDORULE:2, Orphanet:96185]
synonym: "UPD(16)mat" EXACT [Orphanet:96185]
xref: GARD:19336 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96185/attributed", source="Orphanet:96185/ntbt", source="Orphanet:96185"}
xref: MEDGEN:1650997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96185 {source="MONDO:equivalentTo"}
xref: UMLS:C4750769 {source="MEDGEN:1650997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr16 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 16 (Human)

[Term]
id: MONDO:0019917
name: maternal uniparental disomy of chromosome 20
def: "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy." [Orphanet:96186]
subset: gard_rare {source="GARD:16849", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96186"}
subset: ordo_malformation_syndrome {source="Orphanet:96186"}
subset: orphanet_rare {source="Orphanet:96186"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96186]
synonym: "maternal UPD(20)" EXACT [Orphanet:96186]
synonym: "MBCS" RELATED ABBREVIATION [OMIM:617352]
synonym: "MULCHANDANI-BHOJ-CONLIN syndrome" RELATED [OMIM:617352]
synonym: "uniparental disomy, maternal, chromosome 20" RELATED [OMIM:617352]
synonym: "UPD(20)mat" EXACT [Orphanet:96186]
xref: DOID:0111714 {source="MONDO:equivalentTo"}
xref: GARD:16849 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96186/attributed", source="Orphanet:96186/ntbt", source="Orphanet:96186"}
xref: MEDGEN:909388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617352 {source="MONDO:equivalentTo", source="Orphanet:96186"}
xref: Orphanet:96186 {source="MONDO:equivalentTo", source="OMIM:617352"}
xref: SCTID:715735007 {source="MONDO:equivalentTo"}
xref: UMLS:C4275029 {source="MONDO:equivalentTo", source="MEDGEN:909388", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr20 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 20 (Human)

[Term]
id: MONDO:0019918
name: maternal uniparental disomy of chromosome 21
subset: gard_rare {source="GARD:19337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96187"}
subset: ordo_malformation_syndrome {source="Orphanet:96187"}
subset: orphanet_rare {source="Orphanet:96187"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96187]
synonym: "UPD(21)mat" EXACT [Orphanet:96187]
xref: GARD:19337 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96187/attributed", source="Orphanet:96187/ntbt", source="Orphanet:96187"}
xref: MEDGEN:1673526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96187 {source="MONDO:equivalentTo"}
xref: UMLS:C5190523 {source="MEDGEN:1673526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr21 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 21 (Human)

[Term]
id: MONDO:0019919
name: maternal uniparental disomy of chromosome 22
subset: gard_rare {source="GARD:19338", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96188"}
subset: ordo_malformation_syndrome {source="Orphanet:96188"}
subset: orphanet_rare {source="Orphanet:96188"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 22" EXACT [MONDORULE:2, Orphanet:96188]
synonym: "UPD(22)mat" EXACT [Orphanet:96188]
xref: GARD:19338 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96188", source="Orphanet:96188/attributed", source="Orphanet:96188/ntbt"}
xref: MEDGEN:1683631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96188 {source="MONDO:equivalentTo"}
xref: UMLS:C5190524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683631"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr22 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 22 (Human)

[Term]
id: MONDO:0019920
name: paternal uniparental disomy of chromosome 5
def: "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:96190]
subset: gard_rare {source="GARD:19339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96190"}
subset: ordo_malformation_syndrome {source="Orphanet:96190"}
subset: orphanet_rare {source="Orphanet:96190"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paternal uniparental disomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:96190]
synonym: "UPD(5)pat" EXACT [Orphanet:96190]
xref: GARD:19339 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96190", source="Orphanet:96190/attributed", source="Orphanet:96190/ntbt"}
xref: MEDGEN:1652849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96190 {source="MONDO:equivalentTo"}
xref: UMLS:C4749377 {source="MEDGEN:1652849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr5 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 5 (Human)

[Term]
id: MONDO:0019921
name: paternal uniparental disomy of chromosome 6
def: "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia." [Orphanet:96191]
subset: gard_rare {source="GARD:19340", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96191"}
subset: ordo_malformation_syndrome {source="Orphanet:96191"}
subset: orphanet_rare {source="Orphanet:96191"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96191]
synonym: "UPD(6)pat" EXACT [Orphanet:96191]
xref: GARD:19340 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96191", source="Orphanet:96191/attributed", source="Orphanet:96191/ntbt"}
xref: MEDGEN:1662050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96191 {source="MONDO:equivalentTo"}
xref: UMLS:C4749378 {source="MEDGEN:1662050", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr6 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 6 (Human)

[Term]
id: MONDO:0019922
name: paternal uniparental disomy of chromosome 7
def: "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)." [Orphanet:96192]
subset: gard_rare {source="GARD:19341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96192"}
subset: ordo_malformation_syndrome {source="Orphanet:96192"}
subset: orphanet_rare {source="Orphanet:96192"}
subset: rare
synonym: "paternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96192]
synonym: "UPD(7)pat" EXACT [Orphanet:96192]
xref: GARD:19341 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96192", source="Orphanet:96192/attributed", source="Orphanet:96192/ntbt"}
xref: MEDGEN:1634443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96192 {source="MONDO:equivalentTo"}
xref: SCTID:766721001 {source="MONDO:equivalentTo"}
xref: UMLS:C4707802 {source="MONDO:equivalentTo", source="MEDGEN:1634443", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr7 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 7 (Human)

[Term]
id: MONDO:0019923
name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
subset: gard_rare {source="GARD:19342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:96193"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:96193"}
subset: rare
synonym: "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:96193]
synonym: "Mosaic paternal uniparental disomy of chromosome 11" EXACT [Orphanet:96193]
synonym: "UPD(11)pat" EXACT [Orphanet:96193]
xref: GARD:19342 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="Orphanet:96193/attributed", source="Orphanet:96193/ntbt", source="Orphanet:96193"}
xref: MEDGEN:1843183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96193 {source="MONDO:equivalentTo"}
xref: UMLS:C5680249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843183"}
is_a: MONDO:0007534 {source="Orphanet:96193"} ! Beckwith-Wiedemann syndrome
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr11 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 11 (Human)

[Term]
id: MONDO:0019924
name: paternal uniparental disomy of chromosome 20
def: "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20." [Orphanet:96194]
subset: gard_rare {source="GARD:19343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96194"}
subset: ordo_malformation_syndrome {source="Orphanet:96194"}
subset: orphanet_rare {source="Orphanet:96194"}
subset: rare
synonym: "paternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96194]
synonym: "paternal UPD(20)" EXACT [Orphanet:96194]
synonym: "paternal UPD20" EXACT [Orphanet:96194]
synonym: "UPD(20)pat" EXACT [Orphanet:96194]
xref: GARD:19343 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96194", source="Orphanet:96194/attributed", source="Orphanet:96194/ntbt"}
xref: MEDGEN:897979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96194 {source="MONDO:equivalentTo"}
xref: SCTID:715736008 {source="MONDO:equivalentTo"}
xref: UMLS:C4275028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897979"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr20 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 20 (Human)

[Term]
id: MONDO:0019925
name: paternal uniparental disomy of chromosome 21
def: "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:96195]
subset: gard_rare {source="GARD:19344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96195"}
subset: ordo_malformation_syndrome {source="Orphanet:96195"}
subset: orphanet_rare {source="Orphanet:96195"}
subset: rare
synonym: "paternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96195]
synonym: "UPD(21)pat" EXACT [Orphanet:96195]
xref: GARD:19344 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96195/attributed", source="Orphanet:96195/ntbt", source="Orphanet:96195"}
xref: MEDGEN:1647612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96195 {source="MONDO:equivalentTo"}
xref: SCTID:766720000 {source="MONDO:equivalentTo"}
xref: UMLS:C4707801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647612"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr21 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 21 (Human)

[Term]
id: MONDO:0019926
name: X small rings
def: "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." [Orphanet:96201]
subset: gard_rare {source="GARD:19345", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96201"}
subset: ordo_malformation_syndrome {source="Orphanet:96201"}
subset: orphanet_rare {source="Orphanet:96201"}
subset: rare
xref: GARD:19345 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:96201/attributed", source="Orphanet:96201/ntbt", source="Orphanet:96201"}
xref: MEDGEN:1641475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96201 {source="MONDO:equivalentTo"}
xref: SCTID:766760004 {source="MONDO:equivalentTo"}
xref: UMLS:C4707824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641475"}
is_a: MONDO:0019852 {source="Orphanet:96201"} ! inherited primary ovarian failure
intersection_of: MONDO:0700091 ! ring chromosome disorder
intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human)

[Term]
id: MONDO:0019927
name: growth hormone-producing pituitary gland neoplasm
def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone." [NCIT:C7911]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "growth hormone producing neoplasm of pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary gland tumor" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "growth hormone producing pituitary neoplasm" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary tumor" EXACT [NCIT:C7911]
synonym: "growth hormone producing pituitary tumour" EXACT OMO:0003005 []
synonym: "growth hormone producing tumor" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor of pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor of pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor of the pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone producing tumour" EXACT OMO:0003005 []
synonym: "growth hormone producing tumour of pituitary" EXACT OMO:0003005 []
synonym: "growth hormone producing tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "growth hormone producing tumour of the pituitary" EXACT OMO:0003005 []
synonym: "growth hormone producing tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary gland tumor" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "growth hormone secreting pituitary neoplasm" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary tumor" EXACT [NCIT:C7911]
synonym: "growth hormone secreting pituitary tumour" EXACT OMO:0003005 []
synonym: "growth hormone secreting tumor of pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone secreting tumor of the pituitary" EXACT [NCIT:C7911]
synonym: "growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7911]
synonym: "growth hormone secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "growth hormone secreting tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "growth hormone secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "growth hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "growth hormone-producing pituitary gland neoplasm" EXACT [NCIT:C7911]
synonym: "Growth hormone-producing pituitary gland tumor" EXACT [NCIT:C7911]
synonym: "Growth hormone-producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "pituitary gland somatotropinoma" EXACT [NCIT:C7911]
synonym: "pituitary somatotropinoma" EXACT [NCIT:C7911]
synonym: "somatotroph neoplasm" EXACT [NCIT:C7911]
synonym: "somatotroph tumor" EXACT [NCIT:C7911]
synonym: "somatotroph tumour" EXACT OMO:0003005 []
synonym: "somatotropinoma" EXACT [NCIT:C7911, Orphanet:96256]
synonym: "somatotropinoma of pituitary" EXACT [NCIT:C7911]
synonym: "somatotropinoma of pituitary gland" EXACT [NCIT:C7911]
synonym: "somatotropinoma of the pituitary" EXACT [NCIT:C7911]
synonym: "somatotropinoma of the pituitary gland" EXACT [NCIT:C7911]
xref: MEDGEN:866320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7911 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4018860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:866320"}
is_a: MONDO:0002082 {source="NCIT:C7911/inferred"} ! endocrine gland neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
intersection_of: realized_in GO:0030252 ! growth hormone secretion
relationship: disease_arises_from_structure CL:0002312 {source="NCIT:C7911"} ! somatotroph
relationship: disease_has_location UBERON:0000007 {source="NCIT:C7911"} ! pituitary gland

[Term]
id: MONDO:0019928
name: 48,XXXY syndrome
def: "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." [Orphanet:96263]
subset: gard_rare {source="GARD:5676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96263"}
subset: ordo_malformation_syndrome {source="Orphanet:96263"}
subset: orphanet_rare {source="Orphanet:96263"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "48, XXXY syndrome" EXACT [NCIT:C89799]
synonym: "XXXY syndrome" RELATED [GARD:0005676]
xref: GARD:5676 {source="MONDO:GARD"}
xref: ICD10CM:Q98.1 {source="Orphanet:96263/attributed", source="Orphanet:96263/ntbt", source="Orphanet:96263"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10048228 {source="Orphanet:96263/e", source="Orphanet:96263"}
xref: MEDGEN:452344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C89799 {source="MONDO:equivalentTo"}
xref: Orphanet:96263 {source="MONDO:equivalentTo"}
xref: SCTID:78317008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265498 {source="MEDGEN:452344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C89799"} ! syndromic disease
is_a: MONDO:0017975 {source="Orphanet:96263"} ! sex chromosome disorder of sex development
is_a: MONDO:0030502 {source="https://orcid.org/0000-0002-4142-7153"} ! tetrasomy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome" xsd:anyURI {source="GARD:0005676"}

[Term]
id: MONDO:0019929
name: 49,XXXXY syndrome
def: "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." [Orphanet:96264]
subset: gard_rare {source="GARD:5679", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96264"}
subset: ordo_malformation_syndrome {source="Orphanet:96264"}
subset: orphanet_rare {source="Orphanet:96264"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "49,XXXXY" RELATED [GARD:0005679]
synonym: "XXXXY syndrome" RELATED [GARD:0005679]
xref: GARD:5679 {source="MONDO:GARD"}
xref: ICD10CM:Q98.1 {source="Orphanet:96264/attributed", source="Orphanet:96264/ntbt", source="Orphanet:96264"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007713 {source="MONDO:relatedTo"}
xref: NCIT:C185635 {source="MONDO:equivalentTo"}
xref: Orphanet:96264 {source="MONDO:equivalentTo"}
xref: SCTID:38847009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75573"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0017975 {source="Orphanet:96264"} ! sex chromosome disorder of sex development
is_a: MONDO:0700085 {source="https://orcid.org/0000-0002-4142-7153"} ! pentasomy
relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome" xsd:anyURI {source="GARD:0005679"}

[Term]
id: MONDO:0019930
name: Leydig cell hypoplasia due to complete LH resistance
subset: gard_rare {source="GARD:16851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:96265"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [Orphanet:96265]
synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [Orphanet:96265]
synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265]
synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT [Orphanet:96265]
synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT [Orphanet:96265]
synonym: "46,XY DSD due to complete LH resistance" EXACT [Orphanet:96265]
synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265]
synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [Orphanet:96265]
synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [Orphanet:96265]
synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265]
synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [Orphanet:96265]
xref: DOID:0112260 {source="MONDO:equivalentTo"}
xref: GARD:16851 {source="MONDO:GARD"}
xref: ICD10CM:Q56.1 {source="Orphanet:96265", source="Orphanet:96265/attributed", source="Orphanet:96265/ntbt"}
xref: MEDGEN:1776152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96265 {source="MONDO:equivalentTo"}
xref: UMLS:C5438974 {source="MEDGEN:1776152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009384 ! Leydig cell hypoplasia, type 1

[Term]
id: MONDO:0019931
name: Leydig cell hypoplasia due to partial LH resistance
subset: gard_rare {source="GARD:16852", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:96266"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46,XY disorder of sex development due to partial LH receptor inactivation" EXACT [Orphanet:96266]
synonym: "46,XY disorder of sex development due to partial LH resistance" EXACT [Orphanet:96266]
synonym: "46,XY disorder of sex development due to partial luteinizing hormone resistance" EXACT [Orphanet:96266]
synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT [Orphanet:96266]
synonym: "46,XY DSD due to partial LH resistance" EXACT [Orphanet:96266]
synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [Orphanet:96266]
synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [Orphanet:96266]
synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [Orphanet:96266]
synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [Orphanet:96266]
xref: DOID:0112261 {source="MONDO:equivalentTo"}
xref: GARD:16852 {source="MONDO:GARD"}
xref: ICD10CM:Q56.1 {source="Orphanet:96266", source="Orphanet:96266/attributed", source="Orphanet:96266/ntbt"}
xref: MEDGEN:1739565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96266 {source="MONDO:equivalentTo"}
xref: UMLS:C5438975 {source="MEDGEN:1739565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009384 ! Leydig cell hypoplasia, type 1

[Term]
id: MONDO:0019932
name: isolated partial vaginal agenesis
def: "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal." [Orphanet:96269]
subset: gard_rare {source="GARD:19347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:96269"}
subset: ordo_morphological_anomaly {source="Orphanet:96269"}
subset: orphanet_rare {source="Orphanet:96269"}
subset: rare
synonym: "congenital absence of vagina" EXACT [Orphanet:96269]
xref: GARD:19347 {source="MONDO:GARD"}
xref: ICD10CM:Q52.0 {source="Orphanet:96269/ntbt", source="Orphanet:96269"}
xref: icd11.foundation:15782 {source="Orphanet:96269", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:687783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96269 {source="MONDO:equivalentTo"}
xref: SCTID:87380008 {source="MONDO:equivalentTo"}
xref: UMLS:C1261251 {source="MEDGEN:687783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="MONDO:0015847-obsoleted"} ! female reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0019933
name: acromegaly
def: "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." [Orphanet:963]
subset: gard_rare {source="GARD:5725", source="MONDO:GARD"}
subset: nord_rare {source="NORD:723", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:963"}
subset: orphanet_rare {source="Orphanet:963"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Growth hormone excess" RELATED [GARD:0005725]
synonym: "pituitary giant" RELATED [GARD:0005725]
synonym: "somatotroph adenoma" RELATED [GARD:0005725]
xref: DOID:2449 {source="MONDO:equivalentTo"}
xref: EFO:1001485 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5725 {source="MONDO:GARD"}
xref: ICD10CM:E22.0 {source="Orphanet:963", source="Orphanet:963/e"}
xref: MedDRA:10000599 {source="Orphanet:963", source="Orphanet:963/e"}
xref: MEDGEN:1304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000172 {source="Orphanet:963", source="MONDO:equivalentTo", source="Orphanet:963/e", source="DOID:2449"}
xref: NANDO:2100112 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200315 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84533 {source="MONDO:equivalentTo", source="DOID:2449"}
xref: NORD:723 {source="MONDO:NORD"}
xref: Orphanet:963 {source="MONDO:equivalentTo"}
xref: SCTID:154698000 {source="DOID:2449"}
xref: SCTID:267480001 {source="DOID:2449"}
xref: SCTID:74107003 {source="MONDO:equivalentTo", source="DOID:2449"}
xref: UMLS:C0001206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1304"}
is_a: MONDO:0006793 {source="DOID:2449", source="MESH:D000172"} ! hyperpituitarism
relationship: excluded_subClassOf MONDO:0007052 {source="https://orcid.org/0000-0001-5208-3432"} ! growth hormone secreting pituitary adenoma 1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5725/acromegaly" xsd:anyURI {source="GARD:0005725"}

[Term]
id: MONDO:0019934
name: polyploidy
def: "Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." [MESH:D011123]
subset: disease_grouping
subset: gard_rare {source="GARD:19348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:96321"}
subset: rare
xref: GARD:19348 {source="MONDO:GARD"}
xref: ICD10CM:Q92.7 {source="Orphanet:96321", source="Orphanet:96321/e", source="Orphanet:96321/specific"}
xref: icd11.foundation:1286128770 {source="Orphanet:96321", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:18567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011123 {source="Orphanet:96321", source="MONDO:equivalentTo", source="Orphanet:96321/e"}
xref: Orphanet:96321 {source="MONDO:equivalentTo"}
xref: SCTID:72991005 {source="MONDO:equivalentTo"}
xref: UMLS:C0032578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18567"}
is_a: MONDO:0019040 {source="Orphanet:96321"} ! chromosomal disorder
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: has_characteristic SO:0001254 ! polyploid

[Term]
id: MONDO:0019935
name: isochromosome Y
subset: disease_grouping
subset: gard_rare {source="GARD:19349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:96325"}
subset: rare
synonym: "Isochromosome type Y" EXACT [MONDORULE:1, Orphanet:96325]
xref: GARD:19349 {source="MONDO:GARD"}
xref: ICD10CM:Q98.6 {source="Orphanet:96325/attributed", source="Orphanet:96325/ntbt", source="Orphanet:96325"}
xref: MEDGEN:1825987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96325 {source="MONDO:equivalentTo"}
xref: UMLS:C5681538 {source="MEDGEN:1825987", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700028 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y disorder

[Term]
id: MONDO:0019936
name: obsolete rare otorhinolaryngological malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:96333"}
xref: GARD:19350 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:96333 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019937
name: obsolete rare gynecologic or obstetric disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:96344"}
xref: GARD:22514 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:96344 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019938
name: anorectal malformation
subset: disease_grouping
subset: gard_rare {source="GARD:19351", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:96346"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19351 {source="MONDO:GARD"}
xref: icd11.foundation:942572025 {source="Orphanet:96346", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:C537771 {source="Orphanet:96346", source="MONDO:equivalentTo", source="Orphanet:96346/e"}
xref: Orphanet:96346 {source="MONDO:equivalentTo"}
xref: SCTID:33225004 {source="MONDO:equivalentTo"}
is_a: MONDO:0021147 {source="Orphanet:96346", source="Orphanet:96346/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0019939
name: early-onset schizophrenia
subset: gard_rare {source="GARD:19352", source="MONDO:GARD"}
subset: rare
xref: GARD:19352 {source="MONDO:GARD"}
xref: ICD10CM:F20.8 {source="Orphanet:96369/ntbt", source="Orphanet:96369"}
xref: MEDGEN:1800824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:96369 {source="MONDO:equivalentTo"}
xref: UMLS:C1656427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800824"}
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
is_a: MONDO:0005090 {source="https://orcid.org/0000-0002-6601-2165"} ! schizophrenia

[Term]
id: MONDO:0019940
name: hypertrichosis-acromegaloid facial appearance syndrome
def: "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type." [Orphanet:966]
subset: gard_rare {source="GARD:502", source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:966"}
subset: rare
synonym: "acromegaloid facial appearance syndrome and hypertrichosis" RELATED [GARD:0000502]
synonym: "acromegaloid hypertrichosis syndrome" RELATED [GARD:0000502]
synonym: "haff" EXACT [Orphanet:966]
synonym: "hypertrichosis-acromegaloid facial features syndrome" EXACT [Orphanet:966]
synonym: "hypertrichosis-coarse face syndrome" EXACT [Orphanet:966]
xref: GARD:502 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:966/attributed", source="Orphanet:966/ntbt", source="Orphanet:966"}
xref: MEDGEN:928750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:966 {source="MONDO:equivalentObsolete"}
xref: SCTID:721837000 {source="MONDO:equivalentTo"}
xref: UMLS:C4303081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928750"}
is_a: MONDO:0015161 {source="Orphanet:966"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0019280 {source="Orphanet:966"} ! hypertrichosis
is_a: MONDO:0021147 {source="MONDO:Entailed", source="Orphanet:966", source="Orphanet:966/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome" xsd:anyURI {source="GARD:0000502"}

[Term]
id: MONDO:0019941
name: hereditary sensory and autonomic neuropathy type 2
def: "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." [Orphanet:970]
subset: gard_rare {source="GARD:3976", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1235"}
subset: ordo_disorder {source="Orphanet:970"}
subset: orphanet_rare {source="Orphanet:970"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive sensory radicular neuropathy" EXACT [Orphanet:970]
synonym: "Giaccai type acroosteolysis" RELATED [GARD:0003976]
synonym: "Hereditary Sensory and Autonomic Neuropathy Type II" EXACT [NORD:1235]
synonym: "hereditary sensory and autonomic neuropathy type II" EXACT [DOID:0070161, Orphanet:970]
synonym: "hereditary sensory neuropathy type 2" RELATED [GARD:0003976]
synonym: "hereditary sensory radicular neuropathy, recessive form" RELATED [GARD:0003976]
synonym: "HSAN2" EXACT ABBREVIATION [DOID:0070161, Orphanet:970]
synonym: "neurogenic acroosteolysis" EXACT [Orphanet:970]
xref: DOID:0070161 {source="MONDO:equivalentTo"}
xref: GARD:3976 {source="MONDO:GARD"}
xref: ICD10CM:G60.8 {source="Orphanet:970/attributed", source="Orphanet:970/ntbt", source="Orphanet:970"}
xref: MEDGEN:1800880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1235 {source="MONDO:NORD"}
xref: Orphanet:970 {source="MONDO:equivalentTo", source="DOID:0070161"}
xref: PMID:21089229 {source="DOID:0070161"}
xref: SCTID:230555009 {source="DOID:0070161"}
xref: SCTID:30508001 {source="DOID:0070161"}
xref: SCTID:398148000 {source="MONDO:equivalentTo", source="DOID:0070161"}
xref: SCTID:398187000 {source="DOID:0070161"}
xref: SCTID:4021000 {source="DOID:0070161"}
xref: UMLS:C5574675 {source="MEDGEN:1800880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015364 {source="DOID:0070161", source="Orphanet:970/inferred"} ! hereditary sensory and autonomic neuropathy

[Term]
id: MONDO:0019942
name: distal arthrogryposis
def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet." [DOID:0050646, http://en.wikipedia.org/wiki/Arthrogryposis]
subset: disease_grouping
subset: gard_rare {source="GARD:786", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:97120"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis multiplex congenita" RELATED EXCLUDE [DOID:0050646]
synonym: "arthrogryposis multiplex congenita distal" RELATED [GARD:0000786]
synonym: "freeman-Sheldon syndrome" RELATED EXCLUDE [DOID:0050646]
synonym: "freeman-Sheldon syndrome variant" RELATED EXCLUDE [DOID:0050646]
xref: DOID:0050646 {source="MONDO:equivalentTo"}
xref: GARD:786 {source="MONDO:GARD"}
xref: ICD10CM:Q68.8 {source="Orphanet:97120/attributed", source="Orphanet:97120/ntbt", source="Orphanet:97120"}
xref: MEDGEN:120512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:108120 {source="MONDO:equivalentTo"}
xref: Orphanet:1147 {source="DOID:0050646"}
xref: Orphanet:97120 {source="MONDO:equivalentTo", source="GARD:0000786", source="DOID:0050646"}
xref: SCTID:24269006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120512"}
is_a: MONDO:0003939 {source="DOID:0050646"} ! muscle tissue disorder
is_a: MONDO:0015225 {source="Orphanet:97120"} ! arthrogryposis syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:108120"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis" xsd:anyURI {source="GARD:0000786"}

[Term]
id: MONDO:0019943
name: hereditary continuous muscle fiber activity
def: "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." [Orphanet:972]
subset: gard_rare {source="GARD:1512", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:972"}
subset: orphanet_rare {source="Orphanet:972"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "continuous muscle fiber activity hereditary" EXACT [MONDO:0022857]
synonym: "continuous muscle fibre activity hereditary" EXACT OMO:0003005 []
xref: GARD:1512 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:972", source="Orphanet:972/attributed", source="Orphanet:972/ntbt"}
xref: MEDGEN:331775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:972 {source="MONDO:equivalentTo"}
xref: UMLS:C1834559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331775"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005336 ! myopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1512/continuous-muscle-fiber-activity-hereditary" xsd:anyURI {source="GARD:0001512"}

[Term]
id: MONDO:0019944
name: Eisenmenger syndrome
def: "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." [Orphanet:97214]
subset: gard_rare {source="GARD:6323", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1081"}
subset: ordo_disorder {source="Orphanet:97214"}
subset: ordo_malformation_syndrome {source="Orphanet:97214"}
subset: orphanet_rare {source="Orphanet:97214"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Eisenmenger's syndrome" EXACT [NCIT:C84390]
xref: EFO:0009200 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6323 {source="MONDO:GARD"}
xref: ICD10CM:I27.2 {source="Orphanet:97214", source="Orphanet:97214/ntbt"}
xref: MedDRA:10058554 {source="Orphanet:97214", source="Orphanet:97214/e"}
xref: MEDGEN:4479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004541 {source="MONDO:equivalentTo"}
xref: NCIT:C84390 {source="MONDO:equivalentTo"}
xref: NORD:1081 {source="MONDO:NORD"}
xref: Orphanet:97214 {source="MONDO:equivalentTo"}
xref: SCTID:445928005 {source="MONDO:equivalentTo"}
xref: UMLS:C0013743 {source="MEDGEN:4479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C84390"} ! syndromic disease
is_a: MONDO:0015924 ! pulmonary arterial hypertension
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome" xsd:anyURI {source="GARD:0006323"}

[Term]
id: MONDO:0019945
name: solar urticaria
def: "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." [Orphanet:97230]
subset: gard_rare {source="GARD:19353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97230"}
subset: orphanet_rare {source="Orphanet:97230"}
subset: rare
xref: GARD:19353 {source="MONDO:GARD"}
xref: ICD10CM:L56.3 {source="Orphanet:97230/e", source="MONDO:equivalentTo", source="Orphanet:97230"}
xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10041307 {source="Orphanet:97230/e", source="Orphanet:97230"}
xref: MEDGEN:538004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97230 {source="MONDO:equivalentTo"}
xref: SCTID:10347006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538004"}
is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder

[Term]
id: MONDO:0019946
name: obsolete ligneous conjunctivitis
subset: otar {source="MONDO:OTAR"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7224" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009009

[Term]
id: MONDO:0019947
name: rippling muscle disease 2
def: "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype." [NCIT:C148325]
subset: gard_rare {source="GARD:9164", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:97238"}
subset: orphanet_rare {source="Orphanet:97238"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3" EXACT [MONDO:design_pattern]
synonym: "CAV3 autosomal dominant limb-girdle muscular dystrophy" EXACT DEPRECATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CAV3 rippling muscle disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD1C" EXACT DEPRECATED [DOID:0110302, MONDO:Lexical, OMIM:607801, Orphanet:265]
synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT DEPRECATED [DOID:0110302, Orphanet:265]
synonym: "limb-girdle muscular dystrophy type 1C" RELATED DEPRECATED [GARD:0012527]
synonym: "muscular dystrophy limb-girdle type IC" EXACT DEPRECATED [DOID:0110302]
synonym: "muscular dystrophy, limb-girdle, type 1C" RELATED DEPRECATED [MONDO:Lexical, OMIM:607801]
synonym: "muscular dystrophy, limb-girdle, type IC" RELATED DEPRECATED [GARD:0012527]
synonym: "rippling muscle disease 2" EXACT [NCIT:C148325]
synonym: "rippling muscle disease caused by mutation in CAV3" EXACT [MONDO:design_pattern]
synonym: "rippling muscle disease type 2" EXACT [DOID:0060255, MONDORULE:1]
synonym: "RMD2" EXACT ABBREVIATION [NCIT:C148325, OMIM:606072]
xref: DOID:0060255 {source="MONDO:equivalentTo"}
xref: GARD:9164 {source="MONDO:GARD"}
xref: MEDGEN:371357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C148325 {source="MONDO:equivalentTo"}
xref: OMIM:606072 {source="DOID:0060255", source="MONDO:equivalentTo"}
xref: Orphanet:97238 {source="DOID:0060255", source="MONDO:equivalentTo", source="OMIM:606072"}
xref: UMLS:C1832560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371357"}
intersection_of: MONDO:0020704 ! inherited rippling muscle disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 ! CAV3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1529 {source="MONDO:mim2gene_medgen"} ! CAV3

[Term]
id: MONDO:0019948
name: reducing body myopathy
def: "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers." [Orphanet:97239]
subset: gard_rare {source="GARD:12162", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97239"}
subset: orphanet_rare {source="Orphanet:97239"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080090 {source="MONDO:equivalentTo"}
xref: GARD:12162 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:97239", source="Orphanet:97239/attributed", source="Orphanet:97239/ntbt"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:543081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200875 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:97239 {source="MONDO:equivalentTo"}
xref: SCTID:42779002 {source="MONDO:equivalentTo"}
xref: UMLS:C0270970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543081"}
is_a: MONDO:0019952 {source="Orphanet:97239"} ! congenital myopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy" xsd:anyURI {source="GARD:0012162"}

[Term]
id: MONDO:0019949
name: zebra body myopathy
subset: gard_rare {source="GARD:19354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97240"}
subset: orphanet_rare {source="Orphanet:97240"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19354 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:97240/attributed", source="Orphanet:97240/ntbt", source="Orphanet:97240"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:543080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97240 {source="MONDO:equivalentTo"}
xref: SCTID:34513009 {source="MONDO:equivalentTo"}
xref: UMLS:C0270969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543080"}
is_a: MONDO:0019952 {source="Orphanet:97240"} ! congenital myopathy
is_a: MONDO:0100084 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! alpha-actinopathy

[Term]
id: MONDO:0019950
name: congenital muscular dystrophy
def: "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." [DOID:0050557]
subset: disease_grouping
subset: gard_rare {source="GARD:9138", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:97242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMD" EXACT ABBREVIATION [Orphanet:97242]
synonym: "congenital MD" RELATED [GARD:0009138]
synonym: "MDC" EXACT ABBREVIATION [Orphanet:97242]
xref: DOID:0050557 {source="MONDO:equivalentTo"}
xref: GARD:9138 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:97242/ntbt", source="Orphanet:97242/inclusion", source="Orphanet:97242"}
xref: icd11.foundation:396687076 {source="MONDO:equivalentTo", source="Orphanet:97242"}
xref: ICD9:359.0 {source="DOID:0050557"}
xref: MEDGEN:147063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97242 {source="DOID:0050557", source="MONDO:equivalentTo"}
xref: SCTID:111501005 {source="DOID:0050557"}
xref: SCTID:193221009 {source="DOID:0050557"}
xref: SCTID:193224001 {source="DOID:0050557"}
xref: SCTID:240059009 {source="MONDO:equivalentTo"}
xref: UMLS:C0699743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:147063"}
is_a: MONDO:0020121 {source="DOID:0050557", source="Orphanet:97242"} ! muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0019951
name: rigid spine syndrome
def: "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." [Orphanet:97244]
subset: gard_rare {source="GARD:4723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97244"}
subset: orphanet_rare {source="Orphanet:97244"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "desmin-related myopathies with Mallory bodies" RELATED [GARD:0004723]
synonym: "muscular dystrophy, congenital, merosin positive with early spine rigidity" RELATED [GARD:0004723]
synonym: "rigid spine congenital muscular dystrophy" EXACT [Orphanet:97244]
synonym: "rigid spine muscular dystrophy-1" RELATED [GARD:0004723]
xref: GARD:4723 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:97244", source="Orphanet:97244/attributed", source="Orphanet:97244/ntbt"}
xref: MESH:C535683 {source="Orphanet:97244", source="MONDO:equivalentTo", source="Orphanet:97244/e"}
xref: Orphanet:97244 {source="MONDO:equivalentTo"}
is_a: MONDO:0016187 {source="Orphanet:97244"} ! qualitative or quantitative defects of desmin
is_a: MONDO:0016197 {source="Orphanet:97244"} ! qualitative or quantitative defects of selenoprotein N1
is_a: MONDO:0019950 {source="Orphanet:97244"} ! congenital muscular dystrophy

[Term]
id: MONDO:0019952
name: congenital myopathy
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:5898", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:97245"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Batten Turner congenital myopathy" RELATED [GARD:0005898]
synonym: "congenital myopathy" EXACT CLINGEN_LABEL []
synonym: "myopathy congenital" RELATED [GARD:0005898]
xref: DOID:0080100 {source="MONDO:equivalentObsolete"}
xref: DOID:0081337 {source="MONDO:equivalentTo"}
xref: GARD:5898 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:97245", source="Orphanet:97245/e", source="Orphanet:97245/specific"}
xref: icd11.foundation:1185572073 {source="Orphanet:97245", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10062547 {source="Orphanet:97245", source="Orphanet:97245/e"}
xref: MEDGEN:124381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200477 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100234 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:117000 {source="MONDO:equivalentTo"}
xref: Orphanet:97245 {source="MONDO:equivalentTo"}
xref: UMLS:C0270960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124381"}
is_a: MONDO:0005336 {source="DOID:0080100", source="MONDO:indirect"} ! myopathy
relationship: excluded_subClassOf MONDO:0100167 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-0736-9199"} ! pulmonary disease, chronic obstructive, susceptibility to
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:117000"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0019953
name: mega-cisterna magna
subset: gard_rare {source="GARD:19355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97252"}
subset: ordo_morphological_anomaly {source="Orphanet:97252"}
subset: orphanet_rare {source="Orphanet:97252"}
subset: rare
xref: GARD:19355 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:97252/ntbt", source="Orphanet:97252"}
xref: MEDGEN:344031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97252 {source="MONDO:equivalentTo"}
xref: UMLS:C1853377 {source="MEDGEN:344031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020134 {source="Orphanet:97252"} ! cystic malformation of the posterior fossa

[Term]
id: MONDO:0019954
name: pancreatic neuroendocrine tumor
def: "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma)." [Orphanet:97253]
subset: disease_grouping
subset: gard_rare {source="GARD:13034", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:97253"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "islet cell tumor" EXACT [NCIT:C27720]
synonym: "islet cell tumors - pancreas" EXACT [NCIT:C27720]
synonym: "islet cell tumors of the pancreas" EXACT [NCIT:C27720]
synonym: "islet cell tumour" EXACT OMO:0003005 []
synonym: "islet cell tumours - pancreas" EXACT OMO:0003005 []
synonym: "islet cell tumours of the pancreas" EXACT OMO:0003005 []
synonym: "neuroendocrine tumor of pancreas" RELATED [Orphanet:97253]
synonym: "neuroendocrine tumour of pancreas" RELATED OMO:0003005 []
synonym: "pancreatic endocrine tumor" RELATED [GARD:0013034]
synonym: "pancreatic endocrine tumour" RELATED OMO:0003005 []
synonym: "pancreatic NET" EXACT [NCIT:C27720]
synonym: "pancreatic neuroendocrine tumor" EXACT [MONDO:0006048, NCIT:C27720]
synonym: "PANET" RELATED ABBREVIATION [ONCOTREE:PANET]
synonym: "well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C27720]
synonym: "well differentiated pancreatic endocrine tumor" EXACT [NCIT:C27720]
synonym: "well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "well-differentiated NEN of pancreas" EXACT [Orphanet:97253]
synonym: "well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:97253]
synonym: "well-differentiated pancreatic NEN" EXACT [Orphanet:97253]
synonym: "well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:97253]
xref: EFO:1000045 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:13034 {source="MONDO:GARD"}
xref: ICD10CM:E16.8 {source="Orphanet:97253/ntbt", source="Orphanet:97253"}
xref: ICDO:8150/1 {source="NCIT:C27720"}
xref: MEDGEN:277875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27720 {source="EFO:1000045", source="MONDO:equivalentTo"}
xref: ONCOTREE:PANET {source="MONDO:equivalentTo"}
xref: Orphanet:97253 {source="MONDO:equivalentTo"}
xref: UMLS:C1337011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277875"}
is_a: MONDO:0000386 {source="NCIT:C27720"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0005815 {source="NCIT:C27720", source="Orphanet:97253"} ! pancreatic neuroendocrine neoplasm
is_a: MONDO:0021040 {source="MONDO:0018520-obsoleted"} ! pancreatic neoplasm
is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:97253", source="Orphanet:97253/inferred"} ! digestive system neuroendocrine neoplasm

[Term]
id: MONDO:0019955
name: GRFoma
def: "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1)." [Orphanet:97261]
subset: gard_rare {source="GARD:19356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97261"}
subset: orphanet_rare {source="Orphanet:97261"}
subset: rare
synonym: "GRF tumor" EXACT [Orphanet:97261]
synonym: "GRF tumour" EXACT OMO:0003005 []
synonym: "Growth hormone releasing factor tumor" EXACT [Orphanet:97261]
synonym: "Growth hormone releasing factor tumour" EXACT OMO:0003005 []
xref: GARD:19356 {source="MONDO:GARD"}
xref: ICD10CM:E16.8 {source="Orphanet:97261", source="Orphanet:97261/ntbt"}
xref: MEDGEN:577391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97261 {source="MONDO:equivalentTo"}
xref: UMLS:C0346406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:577391"}
is_a: MONDO:0019954 {source="Orphanet:97261", source="Orphanet:97261/inferred"} ! pancreatic neuroendocrine tumor

[Term]
id: MONDO:0019956
name: encephalitis
def: "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." [NCIT:C26760]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97275"}
subset: otar {source="MONDO:OTAR"}
synonym: "brain inflammation" BROAD [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:9588 {source="MONDO:equivalentTo"}
xref: ICD10CM:A85 {source="MONDO:equivalentTo"}
xref: ICD9:323.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:323.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10014581 {source="Orphanet:97275/e", source="Orphanet:97275"}
xref: MEDGEN:4027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004660 {source="Orphanet:97275/e", source="MONDO:equivalentTo", source="DOID:9588", source="Orphanet:97275"}
xref: NCIT:C26760 {source="MONDO:equivalentTo", source="DOID:9588"}
xref: Orphanet:97275 {source="MONDO:equivalentTo"}
xref: SCTID:192736002 {source="DOID:9588"}
xref: SCTID:267578009 {source="DOID:9588"}
xref: SCTID:267682000 {source="DOID:9588"}
xref: SCTID:45170000 {source="MONDO:equivalentTo", source="DOID:9588"}
xref: UMLS:C0014038 {source="MONDO:equivalentTo", source="MEDGEN:4027", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:9588", source="MESH:D004660", source="MONDO:Entailed"} ! brain disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000955 ! brain
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: disease_has_location UBERON:0000955 {source="NCIT:C26760"} ! brain
relationship: excluded_subClassOf MONDO:0005108 {source="DOID:9588", source="https://orcid.org/0000-0001-5208-3432"} ! viral infectious disease

[Term]
id: MONDO:0019957
name: PPoma
def: "PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1)." [Orphanet:97278]
subset: gard_rare {source="GARD:19358", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97278"}
subset: orphanet_rare {source="Orphanet:97278"}
subset: rare
synonym: "pancreatic polypeptide neoplasm" EXACT [NCIT:C67453]
synonym: "pancreatic polypeptide tumor" EXACT [NCIT:C67453]
synonym: "pancreatic polypeptide tumour" EXACT OMO:0003005 []
synonym: "pancreatic polypeptidoma" EXACT [Orphanet:97278]
xref: GARD:19358 {source="MONDO:GARD"}
xref: ICD10CM:E16.8 {source="Orphanet:97278", source="Orphanet:97278/ntbt"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8152/1 {source="NCIT:C67453"}
xref: MEDGEN:577392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C67453 {source="MONDO:equivalentTo"}
xref: Orphanet:97278 {source="MONDO:equivalentTo"}
xref: SCTID:255039001 {source="MONDO:equivalentTo"}
xref: UMLS:C0346407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:577392"}
is_a: MONDO:0019954 {source="Orphanet:97278", source="Orphanet:97278/inferred"} ! pancreatic neuroendocrine tumor

[Term]
id: MONDO:0019958
name: obsolete insulinoma
is_obsolete: true
replaced_by: MONDO:0005048

[Term]
id: MONDO:0019959
name: glucagonoma
def: "Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms." [Orphanet:97280]
subset: gard_rare {source="GARD:2496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97280"}
subset: orphanet_rare {source="Orphanet:97280"}
subset: rare
synonym: "glucagonoma" EXACT [NCIT:C95597]
synonym: "glucagonoma syndrome" EXACT [Orphanet:97280]
synonym: "pancreatic glucagonoma" EXACT [NCIT:C95597]
xref: GARD:2496 {source="MONDO:GARD"}
xref: ICD10CM:E16.8 {source="Orphanet:97280", source="Orphanet:97280/ntbt"}
xref: MedDRA:10018404 {source="Orphanet:97280", source="Orphanet:97280/e"}
xref: MEDGEN:4908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005935 {source="MONDO:equivalentTo", source="Orphanet:97280", source="Orphanet:97280/e"}
xref: NANDO:2100142 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200397 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C95597 {source="MONDO:equivalentTo"}
xref: Orphanet:97280 {source="MONDO:equivalentTo"}
xref: SCTID:16424000 {source="MONDO:equivalentTo"}
xref: UMLS:C0017689 {source="MEDGEN:4908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019954 {source="NCIT:C95597/inferred", source="Orphanet:97280", source="Orphanet:97280/inferred"} ! pancreatic neuroendocrine tumor

[Term]
id: MONDO:0019960
name: VIPoma
def: "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome)." [Orphanet:97282]
subset: gard_rare {source="GARD:3787", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97282"}
subset: orphanet_rare {source="Orphanet:97282"}
subset: rare
synonym: "Diarrheogenic islet cell tumor" EXACT [Orphanet:97282]
synonym: "Diarrheogenic islet cell tumour" EXACT OMO:0003005 []
synonym: "malignant vasoactive intestinal peptide-secreting tumor" EXACT [DOID:5574]
synonym: "malignant vasoactive intestinal peptide-secreting tumour" EXACT OMO:0003005 []
synonym: "pancreatic cholera" RELATED [GARD:0003787, Orphanet:97282]
synonym: "pancreatic vipoma" RELATED [GARD:0005493]
synonym: "vasoactive intestinal peptide (VIP) tumor" RELATED [GARD:0005493]
synonym: "vasoactive intestinal peptide (VIP) tumour" RELATED OMO:0003005 []
synonym: "vasoactive intestinal peptide producing neoplasm" EXACT [NCIT:C26749]
synonym: "vasoactive intestinal peptide producing tumor" EXACT [NCIT:C26749]
synonym: "vasoactive intestinal peptide producing tumour" EXACT OMO:0003005 []
synonym: "vasoactive intestinal peptide secreting neoplasm" EXACT [NCIT:C26749]
synonym: "vasoactive intestinal peptide-producing tumor" RELATED [GARD:0005493]
synonym: "vasoactive intestinal peptide-producing tumour" RELATED OMO:0003005 []
synonym: "vasoactive intestinal peptide-secreting tumor" EXACT [DOID:5574]
synonym: "vasoactive intestinal peptide-secreting tumour" EXACT OMO:0003005 []
synonym: "Verner-Morrison syndrome" EXACT [Orphanet:97282]
synonym: "VIP producing neoplasm" EXACT [NCIT:C26749]
synonym: "VIP- secreting neoplasm" EXACT [NCIT:C26749]
synonym: "VIP- secreting tumor" EXACT [DOID:5574, NCIT:C26749]
synonym: "VIP- secreting tumour" EXACT OMO:0003005 []
synonym: "VIP-producing NET" EXACT [NCIT:C26749]
synonym: "VIP-producing neuroendocrine tumor" EXACT [NCIT:C26749]
synonym: "VIP-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "VIP-secreting tumor" EXACT [Orphanet:97282]
synonym: "VIP-secreting tumour" EXACT OMO:0003005 []
synonym: "VIPoma" EXACT [NCIT:C26749]
synonym: "VIPoma, malignant" EXACT [DOID:5574]
synonym: "watery diarrhea, hypokalemia, and achlorhydria syndrome" RELATED [GARD:0003787]
synonym: "watery diarrhea-hypokalemia-achlorhydria syndrome" RELATED [Orphanet:97282]
synonym: "WDHA syndrome" RELATED [Orphanet:97282]
xref: DOID:5574 {source="MONDO:equivalentTo"}
xref: GARD:3787 {source="MONDO:GARD"}
xref: ICD10CM:E16.8 {source="Orphanet:97282/ntbt", source="Orphanet:97282"}
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8155/1 {source="NCIT:C26749"}
xref: MedDRA:10047430 {source="Orphanet:97282/e", source="Orphanet:97282"}
xref: MEDGEN:41532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003969 {source="DOID:5574", source="Orphanet:97282/e", source="MONDO:equivalentTo", source="Orphanet:97282"}
xref: NANDO:2200394 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26749 {source="DOID:5574", source="MONDO:equivalentTo"}
xref: Orphanet:97282 {source="MONDO:equivalentTo"}
xref: SCTID:253005002 {source="DOID:5574", source="MONDO:equivalentTo"}
xref: SCTID:447643008 {source="DOID:5574"}
xref: UMLS:C0011993 {source="MEDGEN:41532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000386 {source="MONDO:Redundant", source="NCIT:C26749"} ! digestive system neuroendocrine tumor, grade 1/2
is_a: MONDO:0019954 {source="Orphanet:97282", source="Orphanet:97282/inferred"} ! pancreatic neuroendocrine tumor
relationship: disease_has_feature MONDO:0004058 {source="MONDO:Wikidata"} ! pancreatic cholera

[Term]
id: MONDO:0019961
name: obsolete somatostatinoma
is_obsolete: true
replaced_by: MONDO:0006976

[Term]
id: MONDO:0019962
name: thyroid lymphoma
def: "A lymphoma primarily involving the thyroid gland." [NCIT:C5265]
subset: gard_rare {source="GARD:19359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97285"}
subset: orphanet_rare {source="Orphanet:97285"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoma of the thyroid" EXACT [NCIT:C5265]
synonym: "lymphoma of the thyroid gland" EXACT [NCIT:C5265]
synonym: "lymphoma of thyroid" EXACT [NCIT:C5265]
synonym: "lymphoma of thyroid gland" EXACT [NCIT:C5265]
synonym: "primary thyroid gland lymphoma" EXACT [NCIT:C5265]
synonym: "thyroid gland lymphoma" EXACT [MONDO:patterns/location, NCIT:C5265]
synonym: "thyroid lymphoma" EXACT [NCIT:C5265]
xref: DOID:10011 {source="MONDO:equivalentTo"}
xref: GARD:19359 {source="MONDO:GARD"}
xref: MEDGEN:234947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5265 {source="MONDO:equivalentTo", source="DOID:10011"}
xref: Orphanet:97285 {source="MONDO:equivalentTo"}
xref: UMLS:C1336753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234947"}
is_a: MONDO:0002108 {source="DOID:10011", source="NCIT:C5265"} ! thyroid cancer
is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C5265/inferred", source="Orphanet:97285"} ! thyroid tumor
is_a: MONDO:0017207 {source="Orphanet:97285"} ! primary organ-specific lymphoma
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0019963
name: bronchial endocrine tumor
def: "A neuroendocrine neoplasm that involves the bronchus." [MONDO:patterns/location]
subset: gard_rare {source="GARD:19360", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97287"}
subset: orphanet_rare {source="Orphanet:97287"}
subset: rare
synonym: "bronchial NET" EXACT [Orphanet:97287]
synonym: "bronchial neuroendocrine tumor" RELATED [Orphanet:97287]
synonym: "bronchial neuroendocrine tumour" RELATED OMO:0003005 []
synonym: "bronchus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "bronchus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "bronchus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "bronchus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "bronchus neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of bronchus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
xref: GARD:19360 {source="MONDO:GARD"}
xref: ICD10CM:D38.1 {source="Orphanet:97287/ntbt", source="Orphanet:97287"}
xref: Orphanet:97287 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002185 ! bronchus

[Term]
id: MONDO:0019964
name: thymic neuroendocrine tumor
def: "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively." [Orphanet:97289]
subset: gard_rare {source="GARD:19361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97289"}
subset: orphanet_rare {source="Orphanet:97289"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuroendocrine neoplasm of thymus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "thymus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "thymus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "thymus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "thymus neuroendocrine tumour" EXACT OMO:0003005 []
xref: GARD:19361 {source="MONDO:GARD"}
xref: ICD10CM:D38.4 {source="Orphanet:97289", source="Orphanet:97289/ntbt"}
xref: MEDGEN:1842737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: ONCOTREE:TNET {source="MONDO:equivalentTo"}
xref: Orphanet:97289 {source="MONDO:equivalentTo"}
xref: UMLS:C5681534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842737"}
is_a: MONDO:0005197 {source="MONDO:Redundant", source="ONCOTREE:TNET", source="Orphanet:97289"} ! thymus neoplasm
is_a: MONDO:0019496 {source="MONDO:Redundant", source="Orphanet:97289", source="Orphanet:97289/inferred"} ! neuroendocrine neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0019965
name: obsolete rare benign ovarian tumor
def: "OBSOLETE. Any of the forms of ovarian benign neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97293"}
synonym: "rare ovarian benign neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:19363 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97293 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000646

[Term]
id: MONDO:0019966
name: obsolete thoracic outlet syndrome
is_obsolete: true
replaced_by: MONDO:0005979

[Term]
id: MONDO:0019967
name: Kienbock disease
def: "Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function." [Orphanet:97332]
subset: gard_rare {source="GARD:9690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1332"}
subset: ordo_disorder {source="Orphanet:97332"}
subset: orphanet_rare {source="Orphanet:97332"}
subset: rare
synonym: "aseptic necrosis of the lunate bone" EXACT [Orphanet:97332]
synonym: "bilateral Kienbock's disease" RELATED [GARD:0009690]
synonym: "Kienbock's disease" RELATED [GARD:0009690]
synonym: "Kienböck Disease" EXACT [NORD:1332]
synonym: "Lunatomalacia" EXACT [Orphanet:97332]
synonym: "osteochondritis of the lunate bone" EXACT [Orphanet:97332]
synonym: "Osteochondrosis of the lunate bone" EXACT [Orphanet:97332]
xref: GARD:9690 {source="MONDO:GARD"}
xref: ICD10CM:M92.2 {source="Orphanet:97332", source="Orphanet:97332/ntbt"}
xref: ICD10CM:M93.2 {source="Orphanet:97332", source="Orphanet:97332/ntbt"}
xref: MedDRA:10064242 {source="Orphanet:97332", source="Orphanet:97332/e"}
xref: MEDGEN:44028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1332 {source="MONDO:NORD"}
xref: Orphanet:97332 {source="MONDO:equivalentTo"}
xref: UMLS:C0022682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44028"}
is_a: MONDO:0018381 {source="Orphanet:97332"} ! osteochondrosis

[Term]
id: MONDO:0019968
name: obsolete Osgood-Schlatter disease
is_obsolete: true
replaced_by: MONDO:0004241

[Term]
id: MONDO:0019969
name: panner disease
def: "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good." [Orphanet:97336]
subset: gard_rare {source="GARD:19365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97336"}
subset: orphanet_rare {source="Orphanet:97336"}
subset: rare
synonym: "aseptic necrosis of the capital humerus" EXACT [Orphanet:97336]
synonym: "Osteochondrosis of the capital humerus" EXACT [Orphanet:97336]
xref: GARD:19365 {source="MONDO:GARD"}
xref: ICD10CM:M92.0 {source="Orphanet:97336/ntbt", source="Orphanet:97336"}
xref: MEDGEN:1673235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97336 {source="MONDO:equivalentTo"}
xref: UMLS:C4759831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673235"}
is_a: MONDO:0018381 {source="Orphanet:97336"} ! osteochondrosis

[Term]
id: MONDO:0019970
name: Sinding-Larsen-Johansson disease
def: "Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella." [Orphanet:97337]
subset: gard_rare {source="GARD:19366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97337"}
subset: orphanet_rare {source="Orphanet:97337"}
subset: rare
synonym: "aseptic necrosis of patella" EXACT [Orphanet:97337]
synonym: "Osteochondrosis of patella" EXACT [Orphanet:97337]
xref: GARD:19366 {source="MONDO:GARD"}
xref: ICD10CM:M92.4 {source="Orphanet:97337/ntbt", source="Orphanet:97337"}
xref: MedDRA:10063585 {source="Orphanet:97337", source="Orphanet:97337/e"}
xref: MEDGEN:1672493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97337 {source="MONDO:equivalentTo"}
xref: UMLS:C1504517 {source="MEDGEN:1672493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018381 {source="Orphanet:97337"} ! osteochondrosis

[Term]
id: MONDO:0019971
name: melanoma of soft tissue
subset: gard_rare {source="GARD:19367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97338"}
subset: orphanet_rare {source="Orphanet:97338"}
subset: rare
synonym: "clear cell sarcoma of the tendons and aponeuroses" EXACT [Orphanet:97338]
xref: GARD:19367 {source="MONDO:GARD"}
xref: Orphanet:97338 {source="MONDO:equivalentTo"}
is_a: MONDO:0006424 {source="Orphanet:97338"} ! soft tissue neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019099"} ! rare

[Term]
id: MONDO:0019972
name: dural sinus malformation
subset: gard_rare {source="GARD:19368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97339"}
subset: ordo_morphological_anomaly {source="Orphanet:97339"}
subset: orphanet_rare {source="Orphanet:97339"}
subset: rare
synonym: "cranial dural arteriovenous fistula" EXACT [Orphanet:97339]
synonym: "cranial dural arteriovenous malformations" EXACT [Orphanet:97339]
xref: GARD:19368 {source="MONDO:GARD"}
xref: ICD10CM:Q28.3 {source="Orphanet:97339", source="Orphanet:97339/ntbt"}
xref: MEDGEN:824993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97339 {source="MONDO:equivalentTo"}
xref: UMLS:C3839148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:824993"}
is_a: MONDO:0001256 {source="Orphanet:97339"} ! arteriovenous hemangioma/malformation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare

[Term]
id: MONDO:0019973
name: persistent placoid maculopathy
def: "Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision." [Orphanet:97341]
subset: gard_rare {source="GARD:19369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97341"}
subset: orphanet_rare {source="Orphanet:97341"}
subset: rare
xref: GARD:19369 {source="MONDO:GARD"}
xref: MEDGEN:930492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97341 {source="MONDO:equivalentTo"}
xref: SCTID:719297006 {source="MONDO:equivalentTo"}
xref: UMLS:C4304823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930492"}
is_a: MONDO:0005283 {source="Orphanet:97341"} ! retinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0019974
name: obsolete postencephalitic parkinsonism
is_obsolete: true
replaced_by: MONDO:0001945

[Term]
id: MONDO:0019975
name: pellagra
def: "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." [Orphanet:97352]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10014", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97352"}
subset: orphanet_rare {source="Orphanet:97352"}
subset: rare
synonym: "niacin deficiency" EXACT [DOID:8457]
synonym: "niacin-tryptophan deficiency" EXACT [DOID:8457]
synonym: "pellagra" EXACT [DOID:8457]
xref: DOID:8457 {source="MONDO:equivalentTo"}
xref: GARD:10014 {source="MONDO:GARD"}
xref: ICD10CM:E52 {source="DOID:8457", source="Orphanet:97352/e", source="Orphanet:97352"}
xref: icd11.foundation:1108993080 {source="MONDO:equivalentTo", source="Orphanet:97352"}
xref: ICD9:265.2 {source="DOID:8457"}
xref: MedDRA:10029400 {source="Orphanet:97352/e", source="Orphanet:97352"}
xref: MEDGEN:45364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010383 {source="DOID:8457", source="Orphanet:97352/e", source="MONDO:equivalentTo", source="Orphanet:97352"}
xref: Orphanet:97352 {source="MONDO:equivalentTo"}
xref: SCTID:154725000 {source="DOID:8457"}
xref: SCTID:238127001 {source="DOID:8457"}
xref: SCTID:267491008 {source="DOID:8457"}
xref: SCTID:418186002 {source="DOID:8457"}
xref: SCTID:418279001 {source="DOID:8457", source="MONDO:equivalentTo"}
xref: SCTID:56550003 {source="DOID:8457"}
xref: UMLS:C0030783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45364"}
is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder
is_a: MONDO:0006873 {source="DOID:8457", source="MESH:D010383/inferred"} ! nutritional deficiency disease
relationship: disease_has_major_feature HP:0100497 {source="Orphanet:97352", source="https://orcid.org/0000-0002-7463-6306"} ! Vitamin B3 deficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10014/pellagra" xsd:anyURI {source="GARD:0010014"}

[Term]
id: MONDO:0019976
name: dementia pugilistica
def: "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma." [MESH:D020208]
subset: gard_rare {source="GARD:19371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97353"}
subset: orphanet_rare {source="Orphanet:97353"}
subset: rare
synonym: "Boxer's dementia" EXACT [Orphanet:97353]
synonym: "chronic traumatic encephalopathy" EXACT [Orphanet:97353]
synonym: "punch-drunk syndrome" EXACT [Orphanet:97353]
xref: DOID:0081291 {source="MONDO:equivalentTo"}
xref: GARD:19371 {source="MONDO:GARD"}
xref: MEDGEN:508441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020208 {source="MONDO:equivalentTo"}
xref: Orphanet:97353 {source="MONDO:equivalentTo"}
xref: SCTID:230283005 {source="MONDO:equivalentTo"}
xref: UMLS:C0149843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508441"}
is_a: MONDO:0001627 {source="Orphanet:97353"} ! dementia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019515"} ! rare

[Term]
id: MONDO:0019977
name: parkinsonism with dementia of Guadeloupe
def: "Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction." [Orphanet:97355]
subset: gard_rare {source="GARD:19372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97355"}
subset: orphanet_rare {source="Orphanet:97355"}
subset: rare
xref: GARD:19372 {source="MONDO:GARD"}
xref: ICD10EXP:F02.3* {source="Orphanet:97355", source="Orphanet:97355/ntbt"}
xref: ICD10EXP:G20+ {source="Orphanet:97355", source="Orphanet:97355/ntbt"}
xref: MEDGEN:899794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97355 {source="MONDO:equivalentTo"}
xref: SCTID:715737004 {source="MONDO:equivalentTo"}
xref: UMLS:C4275027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899794"}
is_a: MONDO:0001627 {source="Orphanet:97355"} ! dementia
is_a: MONDO:0021095 ! parkinsonian disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019515"} ! rare

[Term]
id: MONDO:0019978
name: Robinow syndrome
def: "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:97360]
subset: gard_rare {source="GARD:312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1673"}
subset: ordo_disorder {source="Orphanet:97360"}
subset: ordo_malformation_syndrome {source="Orphanet:97360"}
subset: orphanet_rare {source="Orphanet:97360"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acral dysostosis with facial and genital abnormalities" EXACT [DOID:0060254, Orphanet:97360]
synonym: "costovertebral segmentation defect with mesomelia (formerly)" RELATED [GARD:0000312]
synonym: "Covesdem syndrome (formerly)" RELATED [GARD:0000312]
synonym: "fetal face syndrome" EXACT [DOID:0060254, Orphanet:97360]
synonym: "foetal face syndrome" EXACT OMO:0003005 []
synonym: "mesomelic dwarfism-small genitalia syndrome" EXACT [Orphanet:97360]
synonym: "Robinow dwarfism" EXACT [DOID:0060254, Orphanet:97360]
synonym: "Robinow-Silverman-Smith syndrome" EXACT [Orphanet:97360]
xref: DOID:0060254 {source="MONDO:equivalentTo"}
xref: GARD:312 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="DOID:0060254", source="Orphanet:97360/inclusion", source="Orphanet:97360", source="Orphanet:97360/ntbt"}
xref: MEDGEN:78535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562492 {source="DOID:0060254"}
xref: NCIT:C85048 {source="DOID:0060254", source="MONDO:equivalentTo"}
xref: NORD:1673 {source="MONDO:NORD"}
xref: OMIMPS:268310 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:97360 {source="DOID:0060254", source="MONDO:equivalentTo"}
xref: SCTID:76520005 {source="DOID:0060254"}
xref: UMLS:C0265205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78535"}
is_a: MONDO:0002254 {source="DOID:0060254", source="NCIT:C85048"} ! syndromic disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
is_a: MONDO:0015160 {source="Orphanet:97360"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:268310"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0019979
name: renal hypoplasia, unilateral
def: "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." [Orphanet:97361]
subset: gard_rare {source="GARD:19373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97361"}
subset: rare
xref: GARD:19373 {source="MONDO:GARD"}
xref: ICD10CM:Q60.3 {source="Orphanet:97361/specific", source="Orphanet:97361/e", source="MONDO:equivalentTo", source="Orphanet:97361"}
xref: MEDGEN:609098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97361 {source="MONDO:equivalentTo"}
xref: UMLS:C0431691 {source="MEDGEN:609098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019637 {source="Orphanet:97361"} ! renal hypoplasia

[Term]
id: MONDO:0019980
name: renal hypoplasia, bilateral
def: "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." [Orphanet:97362]
subset: gard_rare {source="GARD:19374", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97362"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19374 {source="MONDO:GARD"}
xref: ICD10CM:Q60.4 {source="Orphanet:97362/e", source="Orphanet:97362/specific", source="MONDO:equivalentTo", source="Orphanet:97362"}
xref: MEDGEN:609099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97362 {source="MONDO:equivalentTo"}
xref: SCTID:268232000 {source="MONDO:equivalentTo"}
xref: UMLS:C0431692 {source="MONDO:equivalentTo", source="MEDGEN:609099", source="MONDO:MEDGEN"}
is_a: MONDO:0019637 {source="Orphanet:97362"} ! renal hypoplasia

[Term]
id: MONDO:0019981
name: unilateral multicystic dysplastic kidney
def: "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." [Orphanet:97363]
subset: gard_rare {source="GARD:19375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97363"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "unilateral MCDK" EXACT [Orphanet:97363]
synonym: "unilateral multicystic renal dysplasia" EXACT [Orphanet:97363]
xref: GARD:19375 {source="MONDO:GARD"}
xref: ICD10CM:Q61.4 {source="Orphanet:97363/attributed", source="Orphanet:97363/ntbt", source="Orphanet:97363"}
xref: MEDGEN:292613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D021782 {source="Orphanet:97363/e", source="Orphanet:97363"}
xref: Orphanet:97363 {source="MONDO:equivalentTo"}
xref: UMLS:C1567426 {source="MEDGEN:292613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015988 {source="Orphanet:97363"} ! multicystic dysplastic kidney

[Term]
id: MONDO:0019982
name: bilateral multicystic dysplastic kidney
def: "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." [Orphanet:97364]
subset: gard_rare {source="GARD:9517", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97364"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilateral MCDK" EXACT [Orphanet:97364]
synonym: "bilateral multicystic renal dysplasia" EXACT [Orphanet:97364]
synonym: "MRD" RELATED ABBREVIATION [GARD:0009517]
synonym: "Pelvi-ureteric junction obstruction" RELATED [GARD:0009517]
synonym: "PUJO" RELATED ABBREVIATION [GARD:0009517]
xref: GARD:9517 {source="MONDO:GARD"}
xref: ICD10CM:Q61.4 {source="Orphanet:97364/attributed", source="Orphanet:97364/ntbt", source="Orphanet:97364"}
xref: MEDGEN:333563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537373 {source="Orphanet:97364/e", source="Orphanet:97364"}
xref: MESH:D021782 {source="Orphanet:97364/e", source="Orphanet:97364"}
xref: Orphanet:97364 {source="MONDO:equivalentTo"}
xref: SCTID:717749002 {source="MONDO:equivalentTo"}
xref: UMLS:C1840451 {source="MEDGEN:333563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015988 {source="Orphanet:97364"} ! multicystic dysplastic kidney

[Term]
id: MONDO:0019983
name: multiloculated renal cyst
subset: gard_rare {source="GARD:19376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97366"}
subset: ordo_morphological_anomaly {source="Orphanet:97366"}
subset: orphanet_rare {source="Orphanet:97366"}
subset: rare
synonym: "multilocular cyst of the kidney" EXACT [Orphanet:97366]
synonym: "multilocular renal cyst" EXACT [Orphanet:97366]
xref: GARD:19376 {source="MONDO:GARD"}
xref: MEDGEN:609113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200171 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:97366 {source="MONDO:equivalentTo"}
xref: SCTID:86463003 {source="MONDO:equivalentTo"}
xref: UMLS:C0431719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609113"}
is_a: MONDO:0021163 {source="Orphanet:97366"} ! kidney neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare

[Term]
id: MONDO:0019984
name: renal tubular dysgenesis due to twin-twin transfusion
def: "An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects)." [https://orcid.org/0000-0001-5208-3432, Orphanet:97367]
subset: gard_rare {source="GARD:19377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:97367"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97367"}
subset: rare
xref: GARD:19377 {source="MONDO:GARD"}
xref: ICD10CM:Q63.8 {source="Orphanet:97367/ntbt", source="Orphanet:97367"}
xref: MEDGEN:1766862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97367 {source="MONDO:equivalentTo"}
xref: UMLS:C5438872 {source="MEDGEN:1766862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017609 {source="Orphanet:97367"} ! renal tubular dysgenesis

[Term]
id: MONDO:0019985
name: drug-related renal tubular dysgenesis
subset: gard_rare {source="GARD:19378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:97368"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97368"}
subset: rare
xref: GARD:19378 {source="MONDO:GARD"}
xref: ICD10CM:Q63.8 {source="Orphanet:97368", source="Orphanet:97368/ntbt"}
xref: MEDGEN:1771212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97368 {source="MONDO:equivalentTo"}
xref: UMLS:C5438798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1771212"}
is_a: MONDO:0017609 {source="MONDO:Redundant", source="Orphanet:97368"} ! renal tubular dysgenesis
intersection_of: MONDO:0017609 ! renal tubular dysgenesis
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0019986
name: sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_histopathological_subtype {source="Orphanet:97555"}
subset: rare
xref: ICD10CM:N04.8 {source="Orphanet:97555", source="Orphanet:97555/attributed", source="Orphanet:97555/ntbt"}
xref: Orphanet:97555 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0019401 {source="Orphanet:97555"} ! sporadic idiopathic steroid-resistant nephrotic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0019987
name: obsolete congenital and infantile nephrotic syndrome
subset: disease_grouping
xref: Orphanet:97556 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0019988
name: pauci-immune glomerulonephritis with ANCA
def: "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated." [Orphanet:97563]
subset: gard_rare {source="GARD:19379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97563"}
subset: rare
synonym: "pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody" EXACT [Orphanet:97563]
xref: GARD:19379 {source="MONDO:GARD"}
xref: ICD10CM:N05.7 {source="Orphanet:97563", source="Orphanet:97563/ntbt"}
xref: MEDGEN:1843351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97563 {source="MONDO:equivalentTo"}
xref: UMLS:C5680254 {source="MEDGEN:1843351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019641 {source="Orphanet:97563"} ! Pauci-immune glomerulonephritis

[Term]
id: MONDO:0019989
name: pauci-immune glomerulonephritis without ANCA
def: "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer." [Orphanet:97564]
subset: gard_rare {source="GARD:19380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:97564"}
subset: rare
synonym: "antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis" EXACT [Orphanet:97564]
synonym: "pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody" EXACT [Orphanet:97564]
xref: GARD:19380 {source="MONDO:GARD"}
xref: ICD10CM:N05.7 {source="Orphanet:97564", source="Orphanet:97564/ntbt"}
xref: MEDGEN:1842476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97564 {source="MONDO:equivalentTo"}
xref: UMLS:C5680253 {source="MEDGEN:1842476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019641 {source="Orphanet:97564"} ! Pauci-immune glomerulonephritis

[Term]
id: MONDO:0019990
name: non-amyloid fibrillary glomerulopathy
def: "Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases." [Orphanet:97566]
subset: gard_rare {source="GARD:12740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2024"}
subset: ordo_disorder {source="Orphanet:97566"}
subset: orphanet_rare {source="Orphanet:97566"}
subset: rare
synonym: "Congo red-negative amyloidosis-like glomerulopathy" EXACT [Orphanet:97566]
synonym: "fibrillary glomerulonephritis" RELATED [GARD:0012740]
synonym: "Fibrillary Glomerulonephritis " EXACT [NORD:2024]
synonym: "non-amyloid fibrillary glomerulonephritis" EXACT [Orphanet:97566]
xref: GARD:12740 {source="MONDO:GARD"}
xref: ICD10CM:N03.6 {source="Orphanet:97566", source="Orphanet:97566/ntbt"}
xref: MEDGEN:907201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:2024 {source="MONDO:NORD"}
xref: Orphanet:97566 {source="MONDO:equivalentTo"}
xref: SCTID:718192000 {source="MONDO:equivalentTo"}
xref: UMLS:C4273674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907201"}
is_a: MONDO:0019605 {source="Orphanet:97566"} ! immunotactoid or fibrillary glomerulopathy

[Term]
id: MONDO:0019991
name: immunotactoid glomerulopathy
def: "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases." [Orphanet:97567]
subset: gard_rare {source="GARD:12048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97567"}
subset: orphanet_rare {source="Orphanet:97567"}
subset: rare
synonym: "FGN" EXACT ABBREVIATION [NCIT:C96182]
synonym: "fibrillary glomerulonephritis" EXACT [NCIT:C96182]
synonym: "Immunotactoid glomerulonephritis" EXACT [Orphanet:97567]
xref: GARD:12048 {source="MONDO:GARD"}
xref: ICD10CM:N03.6 {source="Orphanet:97567/ntbt", source="Orphanet:97567"}
xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1684714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C158968 {source="MONDO:equivalentTo"}
xref: NCIT:C96182 {source="MONDO:equivalentTo"}
xref: Orphanet:97567 {source="MONDO:equivalentTo"}
xref: SCTID:73305009 {source="MONDO:equivalentTo"}
xref: UMLS:C5202806 {source="MEDGEN:1684714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002462 {source="NCIT:C96182"} ! glomerulonephritis
is_a: MONDO:0019605 {source="Orphanet:97567"} ! immunotactoid or fibrillary glomerulopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy" xsd:anyURI {source="GARD:0012048"}

[Term]
id: MONDO:0019992
name: pseudohypoparathyroidism
def: "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." [Orphanet:97593]
subset: disease_grouping
subset: gard_rare {source="GARD:10758", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1627", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:97593"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:4184 {source="MONDO:equivalentTo"}
xref: GARD:10758 {source="MONDO:GARD"}
xref: ICD10CM:E20.1 {source="Orphanet:97593/e", source="Orphanet:97593/specific", source="MONDO:equivalentTo", source="Orphanet:97593", source="DOID:4184"}
xref: icd11.foundation:1225154856 {source="MONDO:equivalentTo", source="Orphanet:97593"}
xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10037126 {source="Orphanet:97593/e", source="Orphanet:97593"}
xref: MEDGEN:46178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011547 {source="Orphanet:97593/e", source="MONDO:equivalentTo", source="Orphanet:97593", source="DOID:4184"}
xref: NANDO:1200776 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100126 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200349 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99027 {source="MONDO:equivalentTo", source="DOID:4184"}
xref: NORD:1627 {source="MONDO:NORD"}
xref: Orphanet:97593 {source="MONDO:equivalentTo"}
xref: SCTID:154697005 {source="DOID:4184"}
xref: SCTID:190867002 {source="DOID:4184"}
xref: SCTID:267479004 {source="DOID:4184"}
xref: SCTID:58976002 {source="MONDO:equivalentTo", source="DOID:4184"}
xref: UMLS:C0033806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:46178"}
is_a: MONDO:0004689 {source="DOID:4184", source="MESH:D011547"} ! inborn metal metabolism disorder
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015327 {source="Orphanet:97593"} ! developmental anomaly of metabolic origin
is_a: MONDO:0015962 {source="Orphanet:97593"} ! inherited renal tubular disease
is_a: MONDO:0016165 {source="Orphanet:97593"} ! hereditary hypoparathyroidism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism" xsd:anyURI {source="GARD:0010758"}

[Term]
id: MONDO:0019993
name: congenital renal artery stenosis
def: "A narrowing of renal arteries that is present since birth." [PMID:25316474]
subset: gard_rare {source="GARD:19381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97598"}
subset: orphanet_rare {source="Orphanet:97598"}
subset: rare
synonym: "congenital RAS" EXACT [PMID:25316474]
synonym: "congenital renovascular hypoplasia" EXACT [Orphanet:97598]
xref: GARD:19381 {source="MONDO:GARD"}
xref: ICD10CM:Q27.1 {source="Orphanet:97598", source="MONDO:equivalentTo", source="Orphanet:97598/e"}
xref: icd11.foundation:856359002 {source="Orphanet:97598", source="MONDO:equivalentTo"}
xref: MEDGEN:635552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97598 {source="MONDO:equivalentTo"}
xref: SCTID:271432005 {source="MONDO:equivalentTo"}
xref: UMLS:C0495523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:635552"}
is_a: MONDO:0005240 {source="MONDO:0019748-obsoleted"} ! kidney disorder
is_a: MONDO:0005385 {source="MONDO:0019748-obsoleted"} ! vascular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1741" xsd:anyURI

[Term]
id: MONDO:0019994
name: maternal uniparental disomy of chromosome 13
def: "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." [Orphanet:97678]
subset: gard_rare {source="GARD:19382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97678"}
subset: ordo_malformation_syndrome {source="Orphanet:97678"}
subset: orphanet_rare {source="Orphanet:97678"}
subset: rare
synonym: "maternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:97678]
synonym: "UPD(13)mat" EXACT [Orphanet:97678]
xref: GARD:19382 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:97678/attributed", source="Orphanet:97678/ntbt", source="Orphanet:97678"}
xref: MEDGEN:1656812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97678 {source="MONDO:equivalentTo"}
xref: UMLS:C4722325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1656812"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr13 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 13 (Human)

[Term]
id: MONDO:0019995
name: peripheral resistance to thyroid hormones
def: "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:97927]
subset: gard_rare {source="GARD:12734", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:12734 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:97927/attributed", source="Orphanet:97927/ntbt", source="Orphanet:97927"}
xref: MEDGEN:902322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97927 {source="MONDO:equivalentObsolete"}
xref: SCTID:718193005 {source="MONDO:equivalentTo"}
xref: UMLS:C4273673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902322"}
is_a: MONDO:0016412 {source="Orphanet:97927"} ! peripheral hypothyroidism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones" xsd:anyURI {source="GARD:0012734"}

[Term]
id: MONDO:0019996
name: obsolete rare cardiac disease
def: "OBSOLETE. Rare heart disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97929"}
synonym: "rare heart disease" EXACT [MONDO:patterns/rare]
xref: GARD:22515 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97929 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005267

[Term]
id: MONDO:0019997
name: obsolete rare gastroenterologic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97935"}
xref: GARD:22516 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97935 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0019998
name: obsolete gastroduodenal malformation
subset: ordo_group_of_disorders {source="Orphanet:97944"}
xref: GARD:19383 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97944 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0019999
name: obsolete intestinal malformation
subset: ordo_group_of_disorders {source="Orphanet:97945"}
xref: GARD:19384 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97945 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020000
name: obsolete rare respiratory disease
def: "OBSOLETE. Rare respiratory system disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97955"}
synonym: "rare respiratory system disease" EXACT [MONDO:patterns/rare]
xref: GARD:22517 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97955 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005087

[Term]
id: MONDO:0020001
name: respiratory or thoracic malformation
subset: disease_grouping
subset: gard_rare {source="GARD:19385", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:97957"}
subset: rare
xref: GARD:19385 {source="MONDO:GARD"}
xref: MEDGEN:1842800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97957 {source="MONDO:equivalentTo"}
xref: UMLS:C5681559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842800"}
is_a: MONDO:0005087 {source="Orphanet:97957"} ! respiratory system disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020000"} ! rare

[Term]
id: MONDO:0020002
name: obsolete rare surgical thoracic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97962"}
xref: GARD:22518 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97962 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0020003
name: obsolete rare surgical cardiac disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97965"}
xref: GARD:22519 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97965 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0020004
name: obsolete rare eye disease
def: "OBSOLETE. Rare eye disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97966"}
synonym: "rare eye disease" EXACT [MONDO:patterns/rare]
xref: GARD:22520 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97966 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005328

[Term]
id: MONDO:0020005
name: obsolete rare endocrine disease
def: "OBSOLETE. Rare endocrine system disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:97978"}
synonym: "rare endocrine system disease" EXACT [MONDO:patterns/rare]
xref: GARD:22521 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:97978 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005151

[Term]
id: MONDO:0020006
name: obsolete rare hematologic disease
is_obsolete: true
replaced_by: MONDO:0005570

[Term]
id: MONDO:0020007
name: absence of the pulmonary artery
def: "A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension." [Orphanet:980]
subset: gard_rare {source="GARD:18712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:980"}
subset: ordo_morphological_anomaly {source="Orphanet:980"}
subset: orphanet_rare {source="Orphanet:980"}
subset: rare
synonym: "agenesis of pulmonary artery" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "aplasia of pulmonary artery" EXACT [Orphanet:980]
synonym: "congenital absence of pulmonary artery" RELATED [https://orcid.org/0000-0001-5208-3432]
synonym: "pulmonary artery absent" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "pulmonary artery agenesis" EXACT [MONDO:0043187]
synonym: "UAPA" EXACT ABBREVIATION [Orphanet:980]
synonym: "unilateral pulmonary artery absence" EXACT [Orphanet:980]
synonym: "unilateral pulmonary artery agenesis" EXACT [Orphanet:980]
xref: GARD:18712 {source="MONDO:GARD"}
xref: ICD10CM:Q25.7 {source="Orphanet:980/ntbt", source="Orphanet:980"}
xref: MEDGEN:120560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200282 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:980 {source="MONDO:equivalentTo"}
xref: SCTID:86252004 {source="MONDO:equivalentTo"}
xref: UMLS:C0265905 {source="MEDGEN:120560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_location UBERON:0002012 ! pulmonary artery
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7171" xsd:anyURI

[Term]
id: MONDO:0020008
name: obsolete rare immune disease
def: "OBSOLETE. Rare immune system disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98004"}
synonym: "rare immune system disease" EXACT [MONDO:patterns/rare]
xref: GARD:22523 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005046

[Term]
id: MONDO:0020009
name: obsolete rare neurologic disease
def: "OBSOLETE. Rare nervous system disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98006"}
synonym: "rare nervous system disease" EXACT [MONDO:patterns/rare, Orphanet:98006]
synonym: "rare nervous system disorder" EXACT [MONDO:patterns/rare]
xref: GARD:22524 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005071

[Term]
id: MONDO:0020010
name: infectious disorder of the nervous system
def: "A infectious disease that involves the nervous system." [MONDO:patterns/location]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98010"}
subset: otar {source="MONDO:OTAR"}
synonym: "nervous system infectious disease" EXACT [MONDO:patterns/location]
synonym: "nervous system infectious disorder" EXACT [NCIT:C27590]
xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:108926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27590 {source="MONDO:equivalentTo"}
xref: Orphanet:98010 {source="MONDO:equivalentTo"}
xref: SCTID:128116006 {source="MONDO:equivalentTo"}
xref: UMLS:C0597039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108926"}
is_a: MONDO:0005071 {source="Orphanet:98010"} ! nervous system disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0001016 ! nervous system
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0020011
name: obsolete rare headache disorder
def: "OBSOLETE. Rare headache disorder." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98022"}
synonym: "rare headache" EXACT [Orphanet:98022]
synonym: "rare headache disorder" EXACT [MONDO:patterns/rare]
xref: GARD:19387 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98022 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021146

[Term]
id: MONDO:0020012
name: obsolete systemic or rheumatic disease
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3570" xsd:anyURI
is_obsolete: true
consider: MONDO:0000001

[Term]
id: MONDO:0020013
name: obsolete rare odontologic disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98026"}
xref: GARD:22526 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98026 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020014
name: obsolete rare disease with odontological manifestation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98027"}
xref: GARD:19388 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98027 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020015
name: obsolete rare circulatory system disease
def: "OBSOLETE. A rare form of cardiovascular disease." [https://orcid.org/0000-0002-6601-2165]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98028"}
synonym: "rare cardiovascular disease" EXACT [MONDO:patterns/rare]
xref: GARD:22527 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98028 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004995

[Term]
id: MONDO:0020016
name: obsolete rare neurologic disease with psychiatric involvement
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98033"}
xref: GARD:19389 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98033 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020017
name: obsolete rare otorhinolaryngologic disease
def: "OBSOLETE. Any of the forms of otorhinolaryngologic disease that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98036"}
synonym: "rare head and neck disease" RELATED []
synonym: "rare otorhinolaryngologic disease" EXACT [MONDO:patterns/rare]
xref: GARD:22528 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98036 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024623

[Term]
id: MONDO:0020018
name: obsolete cranial malformation
subset: ordo_group_of_disorders {source="Orphanet:98038"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19390 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98038 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020019
name: obsolete digestive tract malformation
subset: ordo_group_of_disorders {source="Orphanet:98039"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19391 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q38-Q45 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:98039 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020020
name: obsolete visceral malformation of the liver, biliary tract, pancreas or spleen
subset: ordo_group_of_disorders {source="Orphanet:98041"}
xref: GARD:19392 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98041 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020021
name: obsolete diaphragmatic or abdominal wall malformation
subset: ordo_group_of_disorders {source="Orphanet:98043"}
xref: GARD:19393 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98043 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI
is_obsolete: true
consider: MONDO:0100293
consider: MONDO:0100298

[Term]
id: MONDO:0020022
name: central nervous system malformation
subset: disease_grouping
subset: gard_rare {source="GARD:19394", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98044"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19394 {source="MONDO:GARD"}
xref: ICD10CM:Q00-Q07 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:374250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009421 {source="MONDO:equivalentTo"}
xref: NANDO:2200118 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:98044 {source="MONDO:equivalentTo"}
xref: UMLS:C1839543 {source="MEDGEN:374250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="Orphanet:98044"} ! nervous system disorder
is_a: MONDO:0019755 {source="Orphanet:98044"} ! developmental defect during embryogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare

[Term]
id: MONDO:0020023
name: obsolete respiratory or mediastinal malformation
subset: ordo_group_of_disorders {source="Orphanet:98045"}
xref: GARD:19395 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98045 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020024
name: obsolete rare infertility
def: "OBSOLETE. Rare infertility." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98047"}
synonym: "rare infertility" EXACT [MONDO:patterns/rare]
synonym: "rare infertility disorder" EXACT [MONDO:patterns/rare]
xref: GARD:22529 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98047 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005047

[Term]
id: MONDO:0020025
name: obsolete rare male infertility
def: "OBSOLETE. Rare male infertility." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98048"}
synonym: "rare male infertility" EXACT [MONDO:patterns/rare]
xref: GARD:19396 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98048 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005372

[Term]
id: MONDO:0020026
name: obsolete rare female infertility
def: "OBSOLETE. Rare female infertility." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98049"}
synonym: "rare female infertility" EXACT [MONDO:patterns/rare]
xref: GARD:19397 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98049 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021124

[Term]
id: MONDO:0020027
name: obsolete rare allergic disease
def: "OBSOLETE. Rare allergic hypersensitivity disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98050"}
synonym: "rare allergic disease" EXACT [MONDO:patterns/rare]
synonym: "rare allergic hypersensitivity disease" EXACT []
synonym: "rare allergy" EXACT [Orphanet:98050]
xref: GARD:22530 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98050 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005271

[Term]
id: MONDO:0020028
name: obsolete rare allergic respiratory disease
def: "OBSOLETE. Rare respiratory allergy." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98052"}
synonym: "rare allergic respiratory disease" EXACT [MONDO:patterns/rare]
synonym: "rare respiratory allergy" EXACT [Orphanet:98052]
xref: GARD:19398 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98052 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000771

[Term]
id: MONDO:0020029
name: obsolete rare genetic cardiac disease
def: "OBSOLETE. Rare genetic heart disease." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98054"}
synonym: "rare genetic heart disease" EXACT []
xref: GARD:19399 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98054 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005267

[Term]
id: MONDO:0020030
name: obsolete rare genetic renal disease
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98056"}
xref: GARD:19400 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98056 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005240

[Term]
id: MONDO:0020031
name: obsolete rare tumor
def: "OBSOLETE. Rare disease of cellular proliferation." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98057"}
synonym: "rare disease of cellular proliferation" EXACT []
synonym: "rare neoplasm" EXACT [Orphanet:98057]
synonym: "rare neoplasm (disease)" EXACT [MONDO:patterns/rare]
xref: GARD:19401 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98057 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005070

[Term]
id: MONDO:0020032
name: obsolete rare urinary tract tumor
def: "OBSOLETE. Rare urinary system benign neoplasm." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98058"}
synonym: "rare urinary system neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare urinary tract cancer" EXACT [Orphanet:98058]
synonym: "rare urinary tract neoplasm" EXACT [Orphanet:98058]
xref: GARD:19402 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98058 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021066

[Term]
id: MONDO:0020033
name: obsolete rare digestive tumor
def: "OBSOLETE. Any of the forms of digestive system neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98059"}
synonym: "rare digestive cancer" EXACT [Orphanet:98059]
synonym: "rare digestive neoplasm" EXACT [Orphanet:98059]
synonym: "rare digestive system neoplasm" EXACT [MONDO:patterns/rare]
xref: GARD:19403 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98059 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021223

[Term]
id: MONDO:0020034
name: obsolete rare respiratory tract neoplasm
def: "OBSOLETE. Any of the forms of respiratory tract neoplasm that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98060"}
synonym: "rare respiratory cancer" NARROW [Orphanet:98060]
synonym: "rare respiratory neoplasm" EXACT [Orphanet:98060]
synonym: "rare respiratory tract neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare respiratory tumor" EXACT [Orphanet:98060]
xref: GARD:19404 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98060 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020641

[Term]
id: MONDO:0020035
name: obsolete rare otorhinolaryngologic tumor
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98061"}
synonym: "rare ORL cancer" EXACT [Orphanet:98061]
synonym: "rare ORL neoplasm" EXACT [Orphanet:98061]
synonym: "rare ORL tumor" EXACT [Orphanet:98061]
xref: GARD:19405 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98061 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020036
name: obsolete rare nervous system tumor
def: "OBSOLETE. Rare nervous system cancer." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98062"}
synonym: "nervous system rare tumor" EXACT [MONDO:patterns/location]
synonym: "rare nervous system cancer" EXACT []
synonym: "rare nervous system neoplasm" EXACT [Orphanet:98062]
xref: GARD:19406 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98062 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021248

[Term]
id: MONDO:0020037
name: obsolete rare gynecological tumor
def: "OBSOLETE. Rare female reproductive system neoplasm." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98063"}
synonym: "rare female reproductive system neoplasm" EXACT [MONDO:patterns/rare]
synonym: "rare gynecological cancer" EXACT [Orphanet:98063]
synonym: "rare gynecological neoplasm" EXACT [Orphanet:98063]
xref: GARD:19407 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98063 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021148

[Term]
id: MONDO:0020038
name: obsolete gonadal dysgenesis of gynecological interest
comment: These terms are not used clinically.
subset: ordo_group_of_disorders {source="Orphanet:98074"}
xref: GARD:19408 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98074 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0001967
consider: MONDO:0002145

[Term]
id: MONDO:0020039
name: obsolete 46,XX disorder of sex development induced by androgens excess
subset: ordo_group_of_disorders {source="Orphanet:98078"}
synonym: "46,XX DSD induced by androgens excess" EXACT [Orphanet:98078]
xref: GARD:19409 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98078 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020040
name: 46,XY disorder of sex development
def: "Differences of sex development in individuals with 46,XY karyotype." [NCIT:C127171]
subset: disease_grouping
subset: gard_rare {source="GARD:8538", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98085"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46, XY disorders of sexual development" RELATED [GARD:0008538]
synonym: "46, XY DSD" RELATED [GARD:0008538]
synonym: "46, XY female" RELATED [GARD:0008538]
synonym: "46,XY differences of Sex development" EXACT [NCIT:C127171]
synonym: "46,XY disorders of Sex development" EXACT [NCIT:C127171]
synonym: "46,XY DSD" EXACT [Orphanet:98085]
synonym: "XY female" RELATED [GARD:0008538]
xref: GARD:8538 {source="MONDO:GARD"}
xref: MEDGEN:414114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058490 {source="Orphanet:98085/e", source="MONDO:equivalentTo", source="Orphanet:98085"}
xref: NANDO:2200393 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C127171 {source="MONDO:equivalentTo"}
xref: Orphanet:325706 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:98085 {source="MONDO:equivalentTo"}
xref: SCTID:8234004 {source="MONDO:equivalentTo"}
xref: UMLS:C2751824 {source="MEDGEN:414114", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002145 {source="MESH:D058490", source="NCIT:C127171", source="Orphanet:98085"} ! disorder of sexual differentiation

[Term]
id: MONDO:0020041
name: obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin'
subset: ordo_group_of_disorders {source="Orphanet:98086"}
xref: GARD:19410 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98086 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017969

[Term]
id: MONDO:0020042
name: obsolete syndrome with 46,XY disorder of sex development
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:98087"}
synonym: "syndrome with 46,XY DSD" EXACT [Orphanet:98087]
xref: GARD:19411 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:2200393 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:98087 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0020043
name: autosomal recessive congenital cerebellar ataxia
subset: disease_grouping
subset: gard_rare {source="GARD:19412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19412 {source="MONDO:GARD"}
xref: MEDGEN:1843070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98095 {source="MONDO:equivalentTo"}
xref: UMLS:C5681519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843070"}
is_a: MONDO:0015244 {source="Orphanet:98095"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0020044
name: autosomal recessive metabolic cerebellar ataxia
subset: disease_grouping
subset: gard_rare {source="GARD:19413", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98096"}
subset: rare
xref: GARD:19413 {source="MONDO:GARD"}
xref: MEDGEN:1842756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98096 {source="MONDO:equivalentTo"}
xref: UMLS:C5681517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842756"}
is_a: MONDO:0015244 {source="Orphanet:98096"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0020045
name: obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autosomal recessive cerebellar ataxia'
subset: ordo_group_of_disorders {source="Orphanet:98097"}
xref: GARD:19414 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.3 {source="Orphanet:98097/e", source="Orphanet:98097/specific", source="Orphanet:98097"}
xref: Orphanet:98097 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015244

[Term]
id: MONDO:0020046
name: autosomal recessive degenerative and progressive cerebellar ataxia
subset: disease_grouping
subset: gard_rare {source="GARD:19415", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98098"}
subset: rare
xref: GARD:19415 {source="MONDO:GARD"}
xref: MEDGEN:1842627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98098 {source="MONDO:equivalentTo"}
xref: UMLS:C5681515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842627"}
is_a: MONDO:0015244 {source="Orphanet:98098"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0020047
name: autosomal recessive syndromic cerebellar ataxia
subset: disease_grouping
subset: gard_rare {source="GARD:19416", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98099"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19416 {source="MONDO:GARD"}
xref: MEDGEN:1843251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98099 {source="MONDO:equivalentTo"}
xref: UMLS:C5681516 {source="MEDGEN:1843251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="Orphanet:98099"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0020048
name: internal carotid agenesis
def: "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography." [Orphanet:981]
subset: gard_rare {source="GARD:3012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:981"}
subset: ordo_morphological_anomaly {source="Orphanet:981"}
subset: orphanet_rare {source="Orphanet:981"}
subset: rare
synonym: "agenesis of the internal carotid artery" RELATED [GARD:0003012]
synonym: "internal carotid artery agenesis" RELATED [GARD:0003012]
xref: GARD:3012 {source="MONDO:GARD"}
xref: ICD10CM:Q28.1 {source="Orphanet:981/ntbt", source="Orphanet:981"}
xref: MEDGEN:928576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:981 {source="MONDO:equivalentTo"}
xref: SCTID:722004001 {source="MONDO:equivalentTo"}
xref: UMLS:C4302907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928576"}
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-4142-7153"} ! vascular disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis" xsd:anyURI {source="GARD:0003012"}

[Term]
id: MONDO:0020049
name: autosomal anomaly
def: "Chromosomal disorder in which the chromosomal anomaly involves an autosome." [MONDO:patterns/location]
subset: disease_grouping
subset: gard_rare {source="GARD:19417", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98127"}
subset: rare
synonym: "autosome chromosomal anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "chromosomal anomaly of autosome" EXACT [MONDO:design_pattern]
xref: GARD:19417 {source="MONDO:GARD"}
xref: MEDGEN:1843454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98127 {source="MONDO:equivalentTo"}
xref: UMLS:C5681496 {source="MONDO:equivalentTo", source="MEDGEN:1843454", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 {source="MONDO:Redundant", source="Orphanet:98127"} ! chromosomal disorder
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_has_location GO:0030849 ! autosome

[Term]
id: MONDO:0020050
name: obsolete autosomal trisomy
comment: Reason: grouping class. Term to consider: MONDO:0700065
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98130"}
synonym: "autosomal duplication" EXACT [Orphanet:98130]
synonym: "chromosomal triplication" RELATED [GARD:0006065]
synonym: "trisomy" BROAD [NCIT:C3421]
xref: GARD:19418 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NCIT:C3421
xref: Orphanet:98130 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:429442006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0700065

[Term]
id: MONDO:0020051
name: obsolete total autosomal trisomy
comment: Reason: grouping class specific to autosomal disorder. Term to consider: trisomy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98131"}
xref: GARD:19419 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98131 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0700065

[Term]
id: MONDO:0020052
name: obsolete partial autosomal trisomy/tetrasomy
comment: Reason: grouping class specific to autosomal disorder. Term to consider: syndrome caused by partial chromosomal duplication
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98132"}
xref: GARD:19420 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98132 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0000762

[Term]
id: MONDO:0020053
name: obsolete total autosomal monosomy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98141"}
xref: GARD:19421 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q93.0 {source="Orphanet:98141/specific", source="Orphanet:98141", source="Orphanet:98141/btnt"}
xref: ICD10CM:Q93.1 {source="Orphanet:98141/specific", source="Orphanet:98141", source="Orphanet:98141/btnt"}
xref: icd11.foundation:599695253 {source="MONDO:obsoleteEquivalent", source="Orphanet:98141", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:98141 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0020639

[Term]
id: MONDO:0020054
name: obsolete partial autosomal monosomy
comment: Reason: grouping class. Term to consider: MONDO:0000761
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98142"}
synonym: "partial autosomal deletion" EXACT [Orphanet:98142]
xref: GARD:19422 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q93.3 {source="Orphanet:98142/specific", source="MONDO:relatedTo", source="Orphanet:98142/btnt", source="Orphanet:98142"}
xref: ICD10CM:Q93.4 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"}
xref: ICD10CM:Q93.5 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"}
xref: icd11.foundation:343448541 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98142"}
xref: Orphanet:98142 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0000761

[Term]
id: MONDO:0020055
name: obsolete autosomal uniparental disomy
comment: Reason: grouping class. Term to consider: MONDO:0700086
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98152"}
xref: GARD:19423 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q99.8 {source="Orphanet:98152", source="Orphanet:98152/attributed", source="Orphanet:98152/ntbt"}
xref: Orphanet:98152 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0700086

[Term]
id: MONDO:0020056
name: obsolete uniparental disomy of maternal origin
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98153"}
xref: GARD:19424 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q99.8 {source="Orphanet:98153/attributed", source="Orphanet:98153/ntbt", source="Orphanet:98153"}
xref: icd11.foundation:824346206 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98153"}
xref: Orphanet:98153 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:726401004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020057
name: obsolete uniparental disomy of paternal origin
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98154"}
xref: GARD:19425 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q99.8 {source="Orphanet:98154/attributed", source="Orphanet:98154/ntbt", source="Orphanet:98154"}
xref: icd11.foundation:2028476598 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98154"}
xref: Orphanet:98154 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:726402006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020058
name: gonosome anomaly
def: "Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y." [https://orcid.org/0000-0002-4142-7153]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98155"}
synonym: "Sex-chromosome anomaly" EXACT [Orphanet:98155]
xref: ICD9:758.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:98155 {source="MONDO:equivalentTo"}
xref: SCTID:95462004 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 {source="Orphanet:98155"} ! chromosomal disorder

[Term]
id: MONDO:0020059
name: obsolete gonosome number anomaly
comment: Reason: grouping class. Term to consider: MONDO:0700064
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98156"}
synonym: "Sex-chromosome number anomaly" EXACT [Orphanet:98156]
xref: GARD:19427 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98156 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true
consider: MONDO:0700064

[Term]
id: MONDO:0020060
name: obsolete gonosome structural anomaly
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98157"}
synonym: "Sex-chromosome structural anomaly" EXACT [Orphanet:98157]
xref: GARD:19428 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98157 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020061
name: obsolete chromosome Y structural anomaly
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98158"}
xref: GARD:19429 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q98.6 {source="Orphanet:98158", source="Orphanet:98158/attributed", source="Orphanet:98158/ntbt"}
xref: icd11.foundation:1096926039 {source="Orphanet:98158", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:98158 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020062
name: obsolete chromosome X structural anomaly
comment: Reason: grouping class. Term to consider: none
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98159"}
xref: GARD:19430 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q99.8 {source="Orphanet:98159/attributed", source="Orphanet:98159/ntbt", source="Orphanet:98159"}
xref: Orphanet:98159 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020063
name: obsolete malformation syndrome with hamartosis
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis'
subset: ordo_group_of_disorders {source="Orphanet:98196"}
synonym: "Dysmorphologic diseases with phakomatosis" EXACT [Orphanet:98196]
xref: GARD:19431 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98196 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019755

[Term]
id: MONDO:0020064
name: pulmonary valve agenesis
def: "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424" [Orphanet:982]
subset: disease_grouping
subset: gard_rare {source="GARD:4597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:982"}
subset: rare
synonym: "absent pulmonary valve syndrome" EXACT [Orphanet:982]
synonym: "congenital absence of the pulmonary valve" EXACT [Orphanet:982]
synonym: "pulmonary valves agenesis" RELATED [GARD:0004597]
synonym: "PVA" EXACT ABBREVIATION [Orphanet:982]
xref: GARD:4597 {source="MONDO:GARD"}
xref: ICD10CM:Q22.2 {source="Orphanet:982/ntbt", source="Orphanet:982"}
xref: MEDGEN:576671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100095 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200280 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:982 {source="MONDO:equivalentTo"}
xref: SCTID:6996004 {source="MONDO:equivalentTo"}
xref: UMLS:C0344983 {source="MEDGEN:576671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016581 {source="Orphanet:982"} ! conotruncal heart malformations

[Term]
id: MONDO:0020065
name: combined dystonia
def: "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
subset: disease_grouping
subset: gard_rare {source="GARD:19432", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98203"}
subset: rare
synonym: "dystonia-plus syndrome" EXACT [Orphanet:98203]
xref: GARD:19432 {source="MONDO:GARD"}
xref: ICD10CM:G24.1 {source="Orphanet:98203/attributed", source="Orphanet:98203/ntbt", source="Orphanet:98203"}
xref: MEDGEN:1842879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98203 {source="MONDO:equivalentTo"}
xref: UMLS:C5680244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842879"}
is_a: MONDO:0044807 {source="Orphanet:98203"} ! inherited dystonia

[Term]
id: MONDO:0020066
name: Ehlers-Danlos syndrome
def: "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." [PMID:28306229]
subset: disease_grouping
subset: gard_rare {source="GARD:6322", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1080"}
subset: ordo_group_of_disorders {source="Orphanet:98249"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Danlos disease" EXACT [SCTID:398114001]
synonym: "Danlos Disease, Ehlers" EXACT [MESH:D004535]
synonym: "danlos ehlers syndrome" EXACT [UMLS:C0013720]
synonym: "Disease, Ehlers Danlos" EXACT [MESH:D004535]
synonym: "Disease, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720]
synonym: "Dystrophia mesodermalis congenita" EXACT [SCTID:398114001]
synonym: "ED syndrome" RELATED [GARD:0006322, MedGen:41720]
synonym: "EDS" EXACT ABBREVIATION [GARD:0006322, icd11.foundation:1122707206, MedGen:41720, PMID:28306229, UMLS:C0013720]
synonym: "Ehler Danlos Syndrome" EXACT [UMLS:C0013720]
synonym: "Ehlers Danlos Disease" EXACT [MESH:D004535, UMLS:C0013720]
synonym: "Ehlers Danlos Syndrome" EXACT [NORD:1080]
synonym: "Ehlers Danlos syndrome" EXACT [GARD:0006322, MESH:D004535, UMLS:C0013720]
synonym: "Ehlers-Danlos Disease" EXACT [MESH:D004535, UMLS:C0013720]
synonym: "Ehlers-Danlos syndromes" EXACT [GARD:0006322, NCIT:C34568, SCTID:398114001, UMLS:C0013720]
synonym: "elastic skin" EXACT [DOID:13359, UMLS:C0013720]
synonym: "Fibrodysplasia elastica generalisata" EXACT [SCTID:398114001]
synonym: "Hereditary collagen dysplasia" EXACT [SCTID:398114001]
synonym: "Meekeren-Ehlers-Danlos syndrome" EXACT [SCTID:398114001]
synonym: "skin elastic" EXACT [UMLS:C0013720]
synonym: "Syndrome, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720]
xref: DOID:13359 {source="MONDO:equivalentTo"}
xref: GARD:6322 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/specific", source="Orphanet:98249/e"}
xref: icd11.foundation:1122707206 {source="Orphanet:98249", source="MONDO:equivalentTo"}
xref: ICD9:756.83 {source="DOID:13359", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10014316 {source="Orphanet:98249", source="Orphanet:98249/e"}
xref: MEDGEN:41720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004535 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/e"}
xref: NANDO:1200645 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200607 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34568 {source="DOID:13359", source="MONDO:equivalentTo"}
xref: NORD:1080 {source="MONDO:NORD"}
xref: OMIMPS:130000 {source="MONDO:equivalentTo"}
xref: Orphanet:98249 {source="MONDO:equivalentTo"}
xref: SCTID:157008000 {source="DOID:13359"}
xref: SCTID:2300005 {source="DOID:13359"}
xref: SCTID:238848002 {source="DOID:13359"}
xref: SCTID:268352002 {source="DOID:13359"}
xref: SCTID:398114001 {source="DOID:13359", source="MONDO:equivalentTo"}
xref: UMLS:C0013720 {source="MEDGEN:41720", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C34568"} ! syndromic disease
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019292 {source="Orphanet:98249", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dermis elastic tissue disorder
relationship: excluded_subClassOf MONDO:0023603 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disorder of connective tissue
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:130000"} ! inherited
property_value: excluded_synonym "Cutis hyperelastica" xsd:string {xref="DOID:13359", xref="SCTID:238848002", xref="SCTID:398114001", xref="UMLS:C0013720", xref="icd11.foundation:1122707206"}
property_value: excluded_synonym "India rubber skin" xsd:string {xref="SCTID:398114001"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0020067
name: infectious encephalitis
def: "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." [NCIT:C79550]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalitis infection" EXACT [NCIT:C79550]
xref: ICD9:049.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:323.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:108917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000069544 {source="MONDO:equivalentTo"}
xref: NCIT:C79550 {source="MONDO:equivalentTo"}
xref: SCTID:312215006 {source="MONDO:equivalentTo"}
xref: UMLS:C0596773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108917"}
is_a: MONDO:0019956 {source="MESH:D000069544", source="MONDO:Redundant", source="NCIT:C79550"} ! encephalitis
is_a: MONDO:0024619 {source="MESH:D000069544", source="MONDO:Redundant"} ! central nervous system infectious disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0019956 ! encephalitis

[Term]
id: MONDO:0020068
name: postinfectious encephalitis
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:10993 {source="MONDO:equivalentTo"}
xref: ICD9:323.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10057235 {source="Orphanet:98253/e", source="Orphanet:98253"}
xref: MEDGEN:581376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98253 {source="MONDO:equivalentObsolete"}
xref: SCTID:192727001 {source="MONDO:equivalentTo"}
xref: UMLS:C0393459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581376"}
is_a: MONDO:0019956 {source="MONDO:Redundant", source="Orphanet:98253"} ! encephalitis
is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:98253"} ! infectious disorder of the nervous system
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease

[Term]
id: MONDO:0020069
name: obsolete chronic encephalitis
def: "OBSOLETE. Chronic form of encephalitis." [MONDO:patterns/chronic]
subset: ordo_group_of_disorders {source="Orphanet:98255"}
subset: otar {source="MONDO:OTAR"}
synonym: "encephalitis, chronic" EXACT [MONDO:patterns/chronic]
xref: GARD:19434 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98255 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020070
name: neonatal epilepsy syndrome
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: disease_grouping
subset: gard_rare {source="GARD:19435", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98257"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19435 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:98257", source="Orphanet:98257/attributed", source="Orphanet:98257/ntbt"}
xref: MEDGEN:1842383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98257 {source="MONDO:equivalentTo"}
xref: UMLS:C5681524 {source="MEDGEN:1842383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98257"} ! epilepsy syndrome
intersection_of: MONDO:0015650 ! epilepsy syndrome
intersection_of: has_characteristic HP:0003623 ! Neonatal onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1640" xsd:anyURI

[Term]
id: MONDO:0020071
name: infantile epilepsy syndrome
def: "An epilepsy syndrome that occurs between 28 days to one year of life." [MONDO:design_pattern]
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: disease_grouping
subset: gard_rare {source="GARD:19436", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98258"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "infantile epilepsy syndrome" EXACT CLINGEN_LABEL []
synonym: "infantile onset epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
xref: GARD:19436 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:98258/attributed", source="Orphanet:98258/ntbt", source="Orphanet:98258"}
xref: MEDGEN:1826124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98258 {source="MONDO:equivalentTo"}
xref: UMLS:C5681523 {source="MEDGEN:1826124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98258"} ! epilepsy syndrome
intersection_of: MONDO:0015650 ! epilepsy syndrome
intersection_of: has_characteristic HP:0003593 ! Infantile onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1640" xsd:anyURI

[Term]
id: MONDO:0020072
name: childhood-onset epilepsy syndrome
def: "A epilepsy syndrome that occurs during childhood." [MONDO:design_pattern]
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:19437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98259"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood epilepsy syndrome" EXACT [MONDO:design_pattern]
synonym: "childhood-onset epilepsy syndrome" EXACT CLINGEN_LABEL []
synonym: "epilepsy syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric epilepsy syndrome" EXACT OMO:0003005 []
synonym: "pediatric epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: GARD:19437 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:98259", source="Orphanet:98259/attributed", source="Orphanet:98259/ntbt"}
xref: MEDGEN:1843031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98259 {source="MONDO:equivalentTo"}
xref: UMLS:C5681526 {source="MEDGEN:1843031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015650 {source="MONDO:Redundant", source="Orphanet:98259"} ! epilepsy syndrome
intersection_of: MONDO:0015650 ! epilepsy syndrome
intersection_of: has_characteristic HP:0011463 ! Childhood onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1640" xsd:anyURI

[Term]
id: MONDO:0020073
name: adolescent-onset epilepsy syndrome
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html.
subset: disease_grouping
subset: gard_rare {source="GARD:19438", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98260"}
subset: rare
xref: GARD:19438 {source="MONDO:GARD"}
xref: ICD10CM:G40.4 {source="Orphanet:98260", source="Orphanet:98260/attributed", source="Orphanet:98260/ntbt"}
xref: MEDGEN:1842874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98260 {source="MONDO:equivalentTo"}
xref: UMLS:C5681525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842874"}
is_a: MONDO:0015650 {source="Orphanet:98260"} ! epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1640" xsd:anyURI

[Term]
id: MONDO:0020074
name: progressive myoclonus epilepsy
def: "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system." [NCIT:C7636]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:7140", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1617", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98261"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epilepsy, progressive myoclonic" EXACT [OMIMPS:254800]
synonym: "familial progressive myoclonic epilepsy" RELATED [GARD:0007140]
synonym: "PME" EXACT ABBREVIATION [DOID:891, Orphanet:98261]
synonym: "progressive myoclonic epilepsy" EXACT [DOID:891]
synonym: "progressive myoclonic epilepsy (disorder) [ambiguous]" EXACT [DOID:891]
synonym: "progressive myoclonus epilepsy" EXACT CLINGEN_LABEL [DOID:891, MONDO:0004676, NCIT:C7636, Orphanet:98261]
xref: DOID:891 {source="MONDO:equivalentTo"}
xref: GARD:7140 {source="MONDO:GARD"}
xref: icd11.foundation:173613583 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98261"}
xref: MEDGEN:199732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020191 {source="Orphanet:98261/e", source="MONDO:equivalentTo", source="DOID:891", source="Orphanet:98261"}
xref: NANDO:1200953 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100237 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7636 {source="MONDO:equivalentTo", source="DOID:891"}
xref: NORD:1617 {source="MONDO:NORD"}
xref: OMIMPS:254800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:98261 {source="MONDO:equivalentTo"}
xref: SCTID:192844008 {source="DOID:891"}
xref: SCTID:267581004 {source="MONDO:equivalentTo", source="DOID:891"}
xref: SCTID:89480000 {source="DOID:891"}
xref: UMLS:C0751778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199732"}
is_a: MONDO:0005027 {source="DOID:891/inferred", source="MESH:D020191/inferred", source="MONDO:Redundant", source="NCIT:C7636"} ! epilepsy
is_a: MONDO:0020072 {source="Orphanet:98261"} ! childhood-onset epilepsy syndrome
is_a: MONDO:0020073 {source="Orphanet:98261"} ! adolescent-onset epilepsy syndrome
is_a: MONDO:0100036 {source="DOID:891"} ! variable age onset epilepsy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:254800"} ! inherited

[Term]
id: MONDO:0020075
name: obsolete hereditary non-syndromic obesity
subset: disease_grouping
subset: ordo_disorder {source="Orphanet:98267"}
subset: otar {source="MONDO:OTAR"}
synonym: "genetic isolated obesity" EXACT []
synonym: "genetic non-syndromic obesity" EXACT [Orphanet:98267]
synonym: "monogenic isolated obesity" EXACT []
synonym: "monogenic obesity due to a leptin-melanocortin pathway anomaly" NARROW [Orphanet:98267]
xref: GARD:19439 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98267 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingClass"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6709" xsd:anyURI
is_obsolete: true
consider: MONDO:0019182

[Term]
id: MONDO:0020076
name: myeloproliferative neoplasm
def: "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" [NCIT:C4345]
subset: disease_grouping
subset: gard_rare {source="GARD:9319", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98274"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic myeloproliferative disease" EXACT [DOID:2226, NCIT:C4345]
synonym: "chronic myeloproliferative disorder" EXACT [MONDO:0005171, NCIT:C4345]
synonym: "chronic myeloproliferative disorders" RELATED [GARD:0009319]
synonym: "chronic myeloproliferative neoplasm" EXACT [NCIT:C4345]
synonym: "CMPD" EXACT ABBREVIATION [DOID:2226, NCIT:C4345]
synonym: "CMPD, U" RELATED [DOID:2226, NCIT:C27350]
synonym: "MPD" EXACT ABBREVIATION [NCIT:C4345, Orphanet:98274]
synonym: "MPN" EXACT ABBREVIATION [NCIT:C4345, ONCOTREE:MPN, Orphanet:98274]
synonym: "myeloproliferative disorder" EXACT [NCIT:C4345, Orphanet:98274]
synonym: "myeloproliferative neoplasm" EXACT [NCIT:C4345]
synonym: "myeloproliferative neoplasm, chronic" EXACT [MONDO:patterns/chronic]
synonym: "myeloproliferative neoplasms" RELATED [ONCOTREE:MPN]
synonym: "myeloproliferative tumor" EXACT [NCIT:C4345]
synonym: "myeloproliferative tumour" EXACT OMO:0003005 []
xref: DOID:2226 {source="MONDO:equivalentTo"}
xref: EFO:0002428 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9319 {source="MONDO:GARD"}
xref: ICD10CM:D47.1 {source="DOID:2226"}
xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9960/3 {source="NCIT:C4345"}
xref: ICDO:9975/1 {source="NCIT:C4345"}
xref: MedDRA:10028576 {source="Orphanet:98274/e", source="Orphanet:98274"}
xref: MEDGEN:220955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009196 {source="DOID:4960", source="Orphanet:98274/e", source="EFO:0004251", source="Orphanet:98274"}
xref: NCIT:C103126 {source="MONDO:otherHierarchy", source="EFO:0002428"}
xref: NCIT:C4345 {source="DOID:2226", source="MONDO:equivalentTo", source="EFO:0004251"}
xref: ONCOTREE:MPN {source="MONDO:equivalentTo"}
xref: Orphanet:98274 {source="MONDO:equivalentTo"}
xref: SCTID:109993000 {source="DOID:2226"}
xref: SCTID:115248004 {source="DOID:2226"}
xref: SCTID:128842008 {source="DOID:2226"}
xref: SCTID:20921005 {source="DOID:2226"}
xref: SCTID:425333006 {source="MONDO:equivalentTo"}
xref: UMLS:C1292778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220955"}
is_a: MONDO:0005170 {source="DOID:2226", source="EFO:0002428", source="MONDO:Redundant", source="NCIT:C4345", source="ONCOTREE:MPN/inferred"} ! myeloid neoplasm
is_a: MONDO:0015756 {source="Orphanet:98274"} ! myeloid hemopathy
is_a: MONDO:0021138 {source="MONDO:Redundant", source="NCIT:C4345"} ! bone marrow cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: MONDO:0005170 ! myeloid neoplasm
intersection_of: disease_has_location UBERON:0002371 ! bone marrow
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: disease_has_location UBERON:0002371 {source="NCIT:C4345"} ! bone marrow

[Term]
id: MONDO:0020077
name: myelodysplastic/myeloproliferative disease
def: "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS." [MESH:D054437]
subset: disease_grouping
subset: gard_rare {source="GARD:9351", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98275"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:9351 {source="MONDO:GARD"}
xref: MESH:D054437 {source="Orphanet:98275/e", source="MONDO:equivalentTo", source="Orphanet:98275"}
xref: Orphanet:98275 {source="MONDO:equivalentTo"}
is_a: MONDO:0015756 {source="Orphanet:98275"} ! myeloid hemopathy

[Term]
id: MONDO:0020078
name: obsolete acute myeloid leukemia with recurrent genetic anomaly
def: "OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" [NCIT:C7175]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acute myeloid leukemia'
subset: ordo_group_of_disorders {source="Orphanet:98277"}
synonym: "acute myeloid Leukemia with balanced Translocations/Inversions" EXACT [NCIT:C7175]
synonym: "acute myeloid Leukemia with recurrent Genetic abnormalities" EXACT [NCIT:C7175]
synonym: "AML with recurrent Genetic abnormalities" EXACT [NCIT:C7175]
synonym: "AML with recurrent genetic anomaly" EXACT [Orphanet:98277]
xref: GARD:12758 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1430965006 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98277"}
xref: NCIT:C7175 {source="MONDO:obsoleteEquivalent"}
xref: ONCOTREE:AMLRGA {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98277 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12758/acute-myeloid-leukemia-with-recurrent-genetic-anomaly" xsd:anyURI {source="GARD:0012758"}
is_obsolete: true
consider: MONDO:0018874

[Term]
id: MONDO:0020079
name: obsolete plasma cell tumor
is_obsolete: true
replaced_by: MONDO:0004959

[Term]
id: MONDO:0020080
name: obsolete histiocytic and dendritic cell tumor
is_obsolete: true
replaced_by: MONDO:0006247

[Term]
id: MONDO:0020081
name: obsolete macrophage or histiocytic tumor
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98288"}
xref: GARD:19442 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98288 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020082
name: dendritic cell tumor
def: "A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). The symptoms and severity of the condition depend on the subtype and location of the tumor." [https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor]
subset: disease_grouping
subset: gard_rare {source="GARD:8317", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98289"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dendritic cell neoplasm" RELATED [GARD:0008317]
synonym: "dendritic cell sarcoma, NOS" NARROW [NCIT:C27260]
synonym: "dendritic cell sarcoma, Not otherwise specified" NARROW [NCIT:C27260]
synonym: "dendritic cell tumor, NOS" NARROW [NCIT:C27260]
synonym: "dendritic cell tumor, not otherwise specified" NARROW [NCIT:C27260]
xref: GARD:8317 {source="MONDO:GARD"}
xref: ICD10CM:C96.4 {source="Orphanet:98289", source="Orphanet:98289/e"}
xref: MEDGEN:1842732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27260 {source="MONDO:directSiblingOf"}
xref: Orphanet:98289 {source="MONDO:equivalentTo"}
xref: SCTID:737223000 {source="MONDO:equivalentTo"}
xref: UMLS:C5681852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842732"}
is_a: MONDO:0006247 {source="NCIT:C27260", source="Orphanet:98289"} ! histiocytic and dendritic cell neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000451 ! dendritic cell
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor" xsd:anyURI {source="GARD:0008317"}

[Term]
id: MONDO:0020083
name: immunodeficiency-associated lymphoproliferative disease
subset: disease_grouping
subset: gard_rare {source="GARD:19443", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98290"}
subset: rare
xref: GARD:19443 {source="MONDO:GARD"}
xref: ICD10CM:D47.9 {source="Orphanet:98290", source="Orphanet:98290/ntbt"}
xref: icd11.foundation:1678636940 {source="MONDO:equivalentTo", source="Orphanet:98290", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1843142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98290 {source="MONDO:equivalentTo"}
xref: UMLS:C5681530 {source="MEDGEN:1843142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015757 {source="Orphanet:98290"} ! lymphoid hemopathy

[Term]
id: MONDO:0020084
name: obsolete lymphoproliferative disease associated with primary immune disease
subset: ordo_group_of_disorders {source="Orphanet:98291"}
xref: GARD:16855 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D47.9 {source="Orphanet:98291", source="Orphanet:98291/ntbt"}
xref: Orphanet:98291 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020085
name: obsolete mastocytosis
is_obsolete: true
replaced_by: MONDO:0007950

[Term]
id: MONDO:0020086
name: obsolete idiopathic interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0002429

[Term]
id: MONDO:0020087
name: hereditary lipodystrophy
def: "An instance of lipodystrophy that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:12597", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98305"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic lipodystrophy" EXACT [Orphanet:98305]
synonym: "genetic lipodystrophy (disease)" EXACT [MONDO:patterns/genetic]
xref: GARD:12597 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:98305/attributed", source="Orphanet:98305/ntbt", source="Orphanet:98305"}
xref: icd11.foundation:1166232738 {source="Orphanet:98305", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:1383706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98305 {source="MONDO:equivalentTo"}
xref: SCTID:724841000 {source="MONDO:equivalentTo"}
xref: UMLS:C4511302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1383706"}
is_a: MONDO:0006573 {source="MONDO:Redundant", source="Orphanet:98305"} ! lipodystrophy
intersection_of: MONDO:0006573 ! lipodystrophy
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0020088
name: familial partial lipodystrophy
def: "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis." [Orphanet:98306]
subset: disease_grouping
subset: gard_rare {source="GARD:11962", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1131"}
subset: ordo_group_of_disorders {source="Orphanet:98306"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital partial lipodystrophy" EXACT [NCIT:C84708]
synonym: "Dunnigan syndrome" RELATED EXCLUDE [DOID:0050440]
synonym: "FPLD" EXACT ABBREVIATION [Orphanet:98306]
synonym: "genetic partial lipodystrophy" EXACT [MONDO:patterns/genetic]
synonym: "Koberling-Dunnigan syndrome" EXACT [DOID:0050440]
synonym: "lipodystrophy, familial partial" EXACT [OMIMPS:151660]
xref: DOID:0050440 {source="MONDO:equivalentTo"}
xref: GARD:11962 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:98306", source="Orphanet:98306/attributed", source="Orphanet:98306/ntbt"}
xref: MEDGEN:124408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052496 {source="DOID:0050440", source="MONDO:equivalentTo", source="Orphanet:98306", source="Orphanet:98306/e"}
xref: NANDO:1200861 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84708 {source="DOID:0050440", source="MONDO:equivalentTo"}
xref: NORD:1131 {source="MONDO:NORD"}
xref: OMIMPS:151660 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:98306 {source="MONDO:equivalentTo"}
xref: SCTID:49292002 {source="DOID:0050440", source="MONDO:equivalentTo"}
xref: UMLS:C0271694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124408"}
is_a: MONDO:0020087 {source="MONDO:Redundant", source="Orphanet:98306"} ! hereditary lipodystrophy
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
is_a: MONDO:0027767 {source="DOID:0050440", source="MONDO:Redundant", source="NCIT:C84708"} ! partial lipodystrophy
intersection_of: MONDO:0027767 ! partial lipodystrophy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:151660"} ! inherited

[Term]
id: MONDO:0020089
name: acquired lipodystrophy
def: "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: gard_rare {source="GARD:12602", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98307"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired lipodystrophy (disease)" EXACT [MONDO:patterns/acquired]
xref: GARD:12602 {source="MONDO:GARD"}
xref: ICD10CM:E88.1 {source="Orphanet:98307", source="Orphanet:98307/ntbt"}
xref: MedDRA:10049287 {source="Orphanet:98307", source="Orphanet:98307/e"}
xref: MEDGEN:798705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98307 {source="MONDO:equivalentTo"}
xref: UMLS:C0877192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:798705"}
intersection_of: MONDO:0006573 ! lipodystrophy
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0020090
name: obsolete male infertility due to gonadal dysgenesis
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility'
subset: ordo_group_of_disorders {source="Orphanet:98313"}
synonym: "Male infertility due to testicular dysgenesis" EXACT [Orphanet:98313]
xref: GARD:19445 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98313 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0020091
name: obsolete male infertility due to obstructive azoospermia
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility'
subset: ordo_group_of_disorders {source="Orphanet:98343"}
synonym: "Male infertility due to impaired sperm transport" EXACT [Orphanet:98343]
xref: GARD:19446 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:N46 {source="Orphanet:98343/ntbt", source="Orphanet:98343"}
xref: Orphanet:98343 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0020092
name: obsolete rare idiopathic male infertility
xref: ICD10CM:N46 {source="Orphanet:98345", source="Orphanet:98345/ntbt"}
xref: Orphanet:98345 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3456" xsd:anyURI
is_obsolete: true
consider: MONDO:0005372

[Term]
id: MONDO:0020093
name: obsolete autosomal dominant isolated diffuse palmoplantar keratoderma
def: "OBSOLETE. Autosomal dominant form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_dominant]
subset: ordo_group_of_disorders {source="Orphanet:98349"}
synonym: "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98349]
synonym: "isolated diffuse palmoplantar keratoderma, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:19447 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:98349/attributed", source="Orphanet:98349/ntbt", source="Orphanet:98349"}
xref: Orphanet:98349 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020094
name: obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
def: "OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98352"}
synonym: "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98352]
synonym: "disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:19448 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:98352/attributed", source="Orphanet:98352/ntbt", source="Orphanet:98352"}
xref: Orphanet:98352 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020095
name: obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
def: "OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98353"}
synonym: "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98353]
synonym: "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" EXACT [MONDO:design_pattern]
synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:19449 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:98353/attributed", source="Orphanet:98353/ntbt", source="Orphanet:98353"}
xref: Orphanet:98353 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020096
name: obsolete autosomal recessive isolated diffuse palmoplantar keratoderma
def: "OBSOLETE. Autosomal recessive form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_recessive]
subset: ordo_group_of_disorders {source="Orphanet:98356"}
synonym: "autosomal recessive isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98356]
synonym: "isolated diffuse palmoplantar keratoderma, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:19450 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:98356", source="Orphanet:98356/attributed", source="Orphanet:98356/ntbt"}
xref: Orphanet:98356 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020097
name: obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature
def: "OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_recessive]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98357"}
synonym: "autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98357]
synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: GARD:19451 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q82.8 {source="Orphanet:98357/attributed", source="Orphanet:98357/ntbt", source="Orphanet:98357"}
xref: Orphanet:98357 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020098
name: obsolete constitutional anemia due to iron metabolism disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited deficiency anemia'
subset: ordo_group_of_disorders {source="Orphanet:98360"}
xref: GARD:19452 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D50.8 {source="Orphanet:98360/attributed", source="Orphanet:98360/ntbt", source="Orphanet:98360"}
xref: Orphanet:98360 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0016624

[Term]
id: MONDO:0020099
name: inherited sideroblastic anemia
comment: We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia.
subset: disease_grouping
subset: gard_rare {source="GARD:19453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98362"}
subset: rare
synonym: "constitutional sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "constitutional sideroblastic anemia" EXACT [Orphanet:98362]
xref: GARD:19453 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:98362/specific", source="Orphanet:98362/e", source="Orphanet:98362"}
xref: icd11.foundation:789053868 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:98362"}
xref: MEDGEN:65119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200892 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:300751 {source="MONDO:equivalentTo"}
xref: Orphanet:98362 {source="MONDO:equivalentTo"}
xref: UMLS:C0221018 {source="MEDGEN:65119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015194 {source="Orphanet:98362"} ! sideroblastic anemia
intersection_of: MONDO:0015194 {source="https://github.com/monarch-initiative/mondo/pull/2076"} ! sideroblastic anemia
intersection_of: has_characteristic MONDO:0021152 {source="https://github.com/monarch-initiative/mondo/pull/2076"} ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300751"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2076" xsd:anyURI

[Term]
id: MONDO:0020100
name: obsolete rare hemolytic anemia
def: "OBSOLETE. Rare hemolytic anemia." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98363"}
synonym: "rare hemolytic anemia" EXACT [MONDO:patterns/rare]
xref: GARD:19454 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98363 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003664

[Term]
id: MONDO:0020101
name: obsolete constitutional hemolytic anemia due to membrane defect
def: "OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." [NCIT:C101218]
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia'
subset: ordo_group_of_disorders {source="Orphanet:98364"}
synonym: "anemia due to membrane defect" EXACT [NCIT:C101218]
synonym: "hemolytic anemia due to erythrocyte membrane defect" EXACT [NCIT:C101218]
synonym: "hemolytic anemia due to membrane defect" EXACT [NCIT:C101218]
synonym: "rare constitutional hemolytic anemia due to a red cell membrane anomaly" EXACT []
xref: GARD:19455 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C101218 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98364 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:111575000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003664

[Term]
id: MONDO:0020102
name: hereditary stomatocytosis
subset: disease_grouping
subset: gard_rare {source="GARD:19456", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98365"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary stomatocytic disease" EXACT [Orphanet:98365]
xref: GARD:19456 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="Orphanet:98365/specific", source="Orphanet:98365/e", source="Orphanet:98365"}
xref: ICD9:282.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:490161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200623 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:98365 {source="MONDO:equivalentTo"}
xref: SCTID:14087004 {source="MONDO:equivalentTo"}
xref: UMLS:C1262483 {source="MONDO:equivalentTo", source="MEDGEN:490161", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="Orphanet:98365"} ! hemolytic anemia

[Term]
id: MONDO:0020103
name: obsolete constitutional hemolytic anemia due to acanthocytosis
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia'
subset: ordo_group_of_disorders {source="Orphanet:98366"}
synonym: "constitutional hemolytic anemia due to acanthocytic disorder" EXACT [Orphanet:98366]
xref: GARD:19457 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E78.6 {source="Orphanet:98366", source="Orphanet:98366/index", source="Orphanet:98366/ntbt"}
xref: Orphanet:98366 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003664

[Term]
id: MONDO:0020104
name: obsolete rare constitutional hemolytic anemia due to an enzyme disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98369"}
xref: GARD:19458 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D55.0 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"}
xref: ICD10CM:D55.1 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"}
xref: ICD10CM:D55.2 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"}
xref: ICD10CM:D55.3 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"}
xref: ICD10CM:D55.8 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"}
xref: ICD10CM:D55.9 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"}
xref: Orphanet:98369 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020105
name: obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia'
subset: ordo_group_of_disorders {source="Orphanet:98370"}
xref: GARD:19459 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D55.1 {source="Orphanet:98370/specific", source="Orphanet:98370", source="Orphanet:98370/e"}
xref: icd11.foundation:2071787420 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:98370"}
xref: Orphanet:98370 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003664

[Term]
id: MONDO:0020106
name: obsolete hemolytic anemia due to a disorder of glycolytic enzymes
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia'
subset: ordo_group_of_disorders {source="Orphanet:98372"}
xref: GARD:19460 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D55.2 {source="Orphanet:98372/e", source="Orphanet:98372/specific", source="Orphanet:98372"}
xref: Orphanet:98372 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003664

[Term]
id: MONDO:0020107
name: obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia'
subset: ordo_group_of_disorders {source="Orphanet:98374"}
synonym: "hemolytic anemia due to an erythroenzymopathy" EXACT [Orphanet:98374]
xref: GARD:19461 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D55.3 {source="Orphanet:98374/e", source="Orphanet:98374/specific", source="Orphanet:98374"}
xref: Orphanet:98374 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0003664

[Term]
id: MONDO:0020108
name: autoimmune hemolytic anemia
def: "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." [Orphanet:98375]
subset: disease_grouping
subset: gard_rare {source="GARD:5870", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:774"}
subset: ordo_group_of_disorders {source="Orphanet:98375"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired autoimmune hemolytic anaemia" RELATED OMO:0003005 []
synonym: "acquired autoimmune hemolytic anemia" RELATED [GARD:0005870]
synonym: "AHA" EXACT ABBREVIATION [Orphanet:98375]
synonym: "AIHA" EXACT ABBREVIATION [Orphanet:98375]
synonym: "anaemia hemolytic autoimmune" RELATED OMO:0003005 []
synonym: "anemia hemolytic autoimmune" RELATED [GARD:0005870]
synonym: "anemia, autoimmune hemolytic" RELATED [OMIM:205700]
synonym: "Anemia, Hemolytic, Acquired Autoimmune" EXACT [NORD:774]
synonym: "autoimmune haemolytic anaemia" EXACT OMO:0003005 []
synonym: "autoimmune haemolytic anemia" EXACT [DOID:718]
synonym: "autoimmune hemolytic anemia" EXACT [MONDO:0008784]
synonym: "familial auto-immune hemolytic anaemia (subtype)" RELATED OMO:0003005 []
synonym: "familial auto-immune hemolytic anemia (subtype)" RELATED [GARD:0005870]
synonym: "idiopathic autoimmune hemolytic anaemia" RELATED OMO:0003005 []
synonym: "idiopathic autoimmune hemolytic anemia" RELATED [GARD:0005870]
synonym: "immuno-hemolytic anaemia" RELATED OMO:0003005 []
synonym: "immuno-hemolytic anemia" RELATED [GARD:0005870]
xref: CSP:0427-1178 {source="DOID:718"}
xref: DOID:718 {source="MONDO:equivalentTo"}
xref: EFO:1001264 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5870 {source="MONDO:GARD"}
xref: ICD10CM:D59.0 {source="Orphanet:98375/ntbt", source="Orphanet:98375"}
xref: ICD10CM:D59.1 {source="Orphanet:98375/ntbt", source="Orphanet:98375"}
xref: icd11.foundation:1834341306 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:98375"}
xref: ICD9:283.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:718"}
xref: MedDRA:10002046 {source="Orphanet:98375/e", source="Orphanet:98375"}
xref: MEDGEN:1918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000744 {source="Orphanet:98375/e", source="MONDO:equivalentTo", source="DOID:718", source="Orphanet:98375"}
xref: NANDO:1200305 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100181 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34378 {source="MONDO:equivalentTo", source="DOID:718"}
xref: NORD:774 {source="MONDO:NORD"}
xref: OMIM:205700 {source="MONDO:equivalentTo", source="DOID:718"}
xref: Orphanet:98375 {source="MONDO:equivalentTo"}
xref: SCTID:154803002 {source="DOID:718"}
xref: SCTID:191209000 {source="DOID:718"}
xref: SCTID:191215000 {source="DOID:718"}
xref: SCTID:25121006 {source="DOID:718"}
xref: SCTID:413603009 {source="MONDO:equivalentTo", source="DOID:718"}
xref: UMLS:C0002880 {source="MEDGEN:1918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000602 {source="DOID:718"} ! autoimmune disorder of blood
intersection_of: MONDO:0003664 ! hemolytic anemia
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
disjoint_from: MONDO:0021559 ! non-autoimmune hemolytic anemia
relationship: excluded_subClassOf MONDO:0015911 {source="Orphanet:98375", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare acquired hemolytic anemia

[Term]
id: MONDO:0020109
name: obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001889 Megaloblastic anemia'
subset: ordo_group_of_disorders {source="Orphanet:98396"}
xref: GARD:19462 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D51.0 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"}
xref: ICD10CM:D51.1 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"}
xref: ICD10CM:D51.2 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"}
xref: ICD10CM:D51.3 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"}
xref: ICD10CM:D51.8 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"}
xref: ICD10CM:D51.9 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"}
xref: Orphanet:98396 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: HP:0001889

[Term]
id: MONDO:0020110
name: pulmonary agenesis
def: "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." [NCIT:C99028]
subset: gard_rare {source="GARD:9119", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:984"}
subset: ordo_morphological_anomaly {source="Orphanet:984"}
subset: orphanet_rare {source="Orphanet:984"}
subset: rare
synonym: "congenital absence of lung" EXACT [NCIT:C99028]
synonym: "congenital lung agenesis" RELATED [GARD:0009119]
synonym: "unilateral lobar pulmonary agenesis" RELATED [GARD:0009119]
synonym: "unilateral lung agenesis" RELATED [GARD:0009119]
xref: GARD:9119 {source="MONDO:GARD"}
xref: ICD10CM:Q33.3 {source="Orphanet:984", source="Orphanet:984/e"}
xref: icd11.foundation:134836096 {source="Orphanet:984", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:748.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10037322 {source="Orphanet:984", source="Orphanet:984/e"}
xref: MEDGEN:82722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562992 {source="MONDO:equivalentTo"}
xref: NCIT:C99028 {source="MONDO:equivalentTo"}
xref: Orphanet:984 {source="MONDO:equivalentTo"}
xref: SCTID:66489009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265780 {source="MONDO:equivalentTo", source="MEDGEN:82722", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020111
name: obsolete constitutional megaloblastic anemia due to folate metabolism disorder
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001889 Megaloblastic anemia'
subset: ordo_group_of_disorders {source="Orphanet:98408"}
xref: GARD:19463 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D52.8 {source="Orphanet:98408", source="Orphanet:98408/attributed", source="Orphanet:98408/ntbt"}
xref: Orphanet:98408 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: HP:0001889

[Term]
id: MONDO:0020112
name: vitamin B12- and folate-independent constitutional megaloblastic anemia
subset: disease_grouping
subset: gard_rare {source="GARD:19464", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98415"}
subset: rare
xref: GARD:19464 {source="MONDO:GARD"}
xref: ICD10CM:D53.0 {source="Orphanet:98415/ntbt", source="MONDO:relatedTo", source="Orphanet:98415/inclusion", source="Orphanet:98415"}
xref: ICD10CM:D53.1 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"}
xref: ICD10CM:D53.2 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"}
xref: ICD10CM:D53.8 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"}
xref: ICD10CM:D53.9 {source="Orphanet:98415/ntbt", source="Orphanet:98415/inclusion", source="Orphanet:98415"}
xref: MEDGEN:1842832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98415 {source="MONDO:equivalentTo"}
xref: UMLS:C5681710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842832"}
is_a: MONDO:0001700 {source="https://orcid.org/0000-0002-6601-2165"} ! megaloblastic anemia
is_a: MONDO:0016624 {source="Orphanet:98415"} ! inherited deficiency anemia

[Term]
id: MONDO:0020113
name: primary acquired red cell aplasia
subset: disease_grouping
subset: gard_rare {source="GARD:19465", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98421"}
subset: rare
synonym: "primary autoimmune red cell aplasia" EXACT [Orphanet:98421]
synonym: "red cell aplasia" BROAD [ICD9:284.81]
xref: GARD:19465 {source="MONDO:GARD"}
xref: ICD10CM:D60.0 {source="Orphanet:98421", source="Orphanet:98421/ntbt"}
xref: ICD10CM:D60.1 {source="Orphanet:98421", source="Orphanet:98421/ntbt"}
xref: ICD10CM:D60.8 {source="Orphanet:98421", source="Orphanet:98421/ntbt"}
xref: ICD10CM:D60.9 {source="Orphanet:98421", source="Orphanet:98421/ntbt"}
xref: MedDRA:10038184 {source="Orphanet:98421", source="Orphanet:98421/e"}
xref: Orphanet:98421 {source="MONDO:equivalentTo"}
is_a: MONDO:0015610 {source="Orphanet:98421"} ! acquired aplastic anemia

[Term]
id: MONDO:0020114
name: obsolete polycythemia
is_obsolete: true
replaced_by: MONDO:0005571

[Term]
id: MONDO:0020115
name: secondary polycythemia
def: "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia)." [Orphanet:98428]
subset: disease_grouping
subset: gard_rare {source="GARD:19467", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98428"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "secondary erythrocytosis" EXACT [Orphanet:98428]
synonym: "secondary polycythemia" EXACT [NCIT:C27178]
xref: GARD:19467 {source="MONDO:GARD"}
xref: ICD10CM:D75.1 {source="Orphanet:98428", source="Orphanet:98428/specific", source="Orphanet:98428/e"}
xref: MedDRA:10036062 {source="Orphanet:98428", source="Orphanet:98428/e"}
xref: MEDGEN:231144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27178 {source="MONDO:equivalentTo"}
xref: Orphanet:98428 {source="MONDO:equivalentTo"}
xref: UMLS:C1318533 {source="MONDO:equivalentTo", source="MEDGEN:231144", source="MONDO:MEDGEN"}
is_a: MONDO:0005571 {source="NCIT:C27178/inferred", source="Orphanet:98428", source="Orphanet:98428/inferred"} ! polycythemia
relationship: excluded_subClassOf MONDO:0015549 {source="Orphanet:98428", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic hematologic disease

[Term]
id: MONDO:0020116
name: obsolete rare blood coagulation disease
def: "OBSOLETE. Any of the forms of blood coagulation disease that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98429"}
synonym: "rare blood coagulation disease" EXACT [MONDO:patterns/rare]
synonym: "rare coagulation disorder" RELATED [Orphanet:98429]
xref: GARD:19468 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98429 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001531

[Term]
id: MONDO:0020117
name: alpha granule disease
subset: disease_grouping
subset: gard_rare {source="GARD:19469", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98455"}
subset: rare
xref: GARD:19469 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:98455", source="Orphanet:98455/attributed", source="Orphanet:98455/ntbt"}
xref: icd11.foundation:237567451 {source="Orphanet:98455", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:1842309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98455 {source="MONDO:equivalentTo"}
xref: UMLS:C5681720 {source="MEDGEN:1842309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0100241 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited thrombocytopenia
relationship: disease_has_basis_in_dysfunction_of GO:0031091 ! platelet alpha granule
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0020118
name: obsolete dense granule disease
subset: ordo_group_of_disorders {source="Orphanet:98456"}
synonym: "Delta granule disease" EXACT [Orphanet:98456]
xref: GARD:19470 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:D69.1 {source="Orphanet:98456/attributed", source="Orphanet:98456/ntbt", source="Orphanet:98456"}
xref: icd11.foundation:1930060978 {source="Orphanet:98456", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"}
xref: Orphanet:98456 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020119
name: X-linked syndromic intellectual disability
def: "A syndromic intellectual disability with an X-linked mode of inheritance." [https://orcid.org/0000-0002-6601-2165]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "intellectual disability, X-linked syndromic" EXACT [OMIMPS:309510]
synonym: "mental retardation, X-linked syndromic" EXACT DEPRECATED [OMIMPS:309510]
synonym: "syndromic intellectual disability, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "syndromic X-linked intellectual disability" EXACT [DOID:0060309, MONDO:0000738]
synonym: "syndromic X-linked mental retardation" EXACT DEPRECATED [DOID:0060309]
synonym: "X-linked syndromic intellectual disability" EXACT CLINGEN_LABEL []
xref: DOID:0060309 {source="MONDO:equivalentTo"}
xref: OMIMPS:309510 {source="MONDO:equivalentTo", source="DOID:0060309"}
xref: Orphanet:98464 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0100284 {source="https://clinicalgenome.org/affiliation/40006/", source="https://github.com/monarch-initiative/mondo/issues/2670"} ! X-linked intellectual disability
intersection_of: MONDO:0000508 ! syndromic intellectual disability
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:98464", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:309510"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0020120
name: skeletal muscle disorder
def: "A disease involving the skeletal muscle tissue." [MONDO:patterns/location_top]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98472"}
subset: otar {source="MONDO:OTAR"}
synonym: "disease of skeletal muscle tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of skeletal muscle tissue" EXACT []
synonym: "disorder of skeletal muscle tissue" EXACT [MONDO:patterns/location_top]
synonym: "skeletal muscle tissue disease" EXACT [MONDO:patterns/location]
synonym: "skeletal muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MedDRA:10028641 {source="Orphanet:98472/e", source="Orphanet:98472"}
xref: MEDGEN:735900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009135 {source="MONDO:relatedTo", source="Orphanet:98472/e", source="Orphanet:98472"}
xref: Orphanet:206634 {source="MONDO:mondoIsBroaderThanSource"}
xref: Orphanet:98472 {source="MONDO:equivalentTo"}
xref: SCTID:75047002 {source="MONDO:equivalentTo"}
xref: UMLS:C1533847 {source="MEDGEN:735900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003939 ! muscle tissue disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001134 ! skeletal muscle tissue
relationship: excluded_subClassOf MONDO:0019056 {source="Orphanet:98472", source="https://orcid.org/0000-0001-5208-3432"} ! neuromuscular disease

[Term]
id: MONDO:0020121
name: muscular dystrophy
def: "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." [https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy]
subset: disease_grouping
subset: gard_rare {source="GARD:7922", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98473"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:9884 {source="MONDO:equivalentTo"}
xref: GARD:7922 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:98473/e", source="Orphanet:98473/specific", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"}
xref: icd11.foundation:1464662404 {source="MONDO:equivalentTo", source="Orphanet:98473"}
xref: ICD9:359.1 {source="DOID:9884"}
xref: MedDRA:10028356 {source="Orphanet:98473/e", source="Orphanet:98473"}
xref: MEDGEN:44527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009136 {source="Orphanet:98473/e", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"}
xref: NANDO:1200486 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100233 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84910 {source="MONDO:equivalentTo", source="DOID:9884"}
xref: Orphanet:98473 {source="MONDO:equivalentTo"}
xref: SCTID:155095006 {source="DOID:9884"}
xref: SCTID:193225000 {source="DOID:9884"}
xref: SCTID:193236007 {source="DOID:9884"}
xref: SCTID:193257004 {source="DOID:9884"}
xref: SCTID:267712004 {source="DOID:9884"}
xref: SCTID:44292004 {source="DOID:9884"}
xref: SCTID:73297009 {source="MONDO:equivalentTo", source="DOID:9884"}
xref: UMLS:C0026850 {source="MEDGEN:44527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="DOID:9884", source="NCIT:C84910"} ! myopathy
is_a: MONDO:0019056 {source="ISBN-13:978-1-259-64403-0"} ! neuromuscular disease
is_a: MONDO:0020120 {source="Orphanet:98473", source="Orphanet:98473/inferred"} ! skeletal muscle disorder
relationship: excluded_subClassOf MONDO:0100167 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-0736-9199"} ! pulmonary disease, chronic obstructive, susceptibility to
relationship: has_characteristic MONDO:0021152 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy" xsd:anyURI {source="GARD:0007922"}

[Term]
id: MONDO:0020122
name: acquired idiopathic inflammatory myopathy
def: "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies." [NCIT:C116796]
subset: disease_grouping
subset: gard_rare {source="GARD:9128", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98482"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic inflammatory myopathies" EXACT [NCIT:C116796]
synonym: "idiopathic inflammatory myopathy, familial" RELATED [GARD:0009128]
synonym: "idiopathic inflammatory myositis" EXACT [Orphanet:98482]
synonym: "IIm" EXACT [NCIT:C116796]
synonym: "IMM" EXACT ABBREVIATION [Orphanet:98482]
xref: GARD:9128 {source="MONDO:GARD"}
xref: icd11.foundation:464294586 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:98482"}
xref: ICD9:359.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NCIT:C116796
xref: Orphanet:98482 {source="MONDO:equivalentTo"}
xref: SCTID:702380008
is_a: MONDO:0016105 {source="Orphanet:98482"} ! acquired skeletal muscle disease
is_a: MONDO:0600023 {source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic inflammatory myopathy
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0020123
name: metabolic myopathy
def: "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction." [NCIT:C98985]
subset: disease_grouping
subset: gard_rare {source="GARD:19472", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98486"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19472 {source="MONDO:GARD"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10068836 {source="Orphanet:98486/e", source="Orphanet:98486"}
xref: MEDGEN:452364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98985 {source="MONDO:equivalentTo"}
xref: Orphanet:98486 {source="MONDO:equivalentTo"}
xref: SCTID:26111005 {source="MONDO:equivalentTo"}
xref: UMLS:C0270984 {source="MEDGEN:452364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005336 {source="NCIT:C98985"} ! myopathy

[Term]
id: MONDO:0020124
name: neuromuscular junction disease
def: "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions." [MESH:D020511]
subset: disease_grouping
subset: gard_rare {source="GARD:19473", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98491"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:439 {source="MONDO:equivalentTo"}
xref: GARD:19473 {source="MONDO:GARD"}
xref: ICD10CM:G70.0 {source="Orphanet:98491", source="Orphanet:98491/ntbt"}
xref: ICD10CM:G70.1 {source="Orphanet:98491", source="Orphanet:98491/ntbt"}
xref: ICD10CM:G70.2 {source="Orphanet:98491", source="Orphanet:98491/ntbt"}
xref: ICD10CM:G70.8 {source="Orphanet:98491", source="Orphanet:98491/ntbt"}
xref: ICD10CM:G70.9 {source="Orphanet:98491", source="Orphanet:98491/ntbt"}
xref: MEDGEN:155665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020511 {source="DOID:439", source="MONDO:equivalentTo", source="Orphanet:98491", source="Orphanet:98491/e"}
xref: Orphanet:98491 {source="MONDO:equivalentTo"}
xref: Orphanet:98495 {source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:128213006 {source="DOID:439", source="MONDO:equivalentTo"}
xref: UMLS:C0751950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155665"}
is_a: MONDO:0019056 {source="DOID:439", source="MESH:D020511", source="Orphanet:98491"} ! neuromuscular disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0031594 ! neuromuscular junction

[Term]
id: MONDO:0020125
name: obsolete acquired neuromuscular junction disease
def: "OBSOLETE. An instance of neuromuscular junction disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: ordo_group_of_disorders {source="Orphanet:98494"}
synonym: "acquired neuromuscular junction disease" EXACT [MONDO:patterns/acquired]
xref: GARD:19474 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98494 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020126
name: obsolete rare peripheral neuropathy
def: "OBSOLETE. Rare peripheral neuropathy." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98496"}
synonym: "rare peripheral neuropathy" EXACT [MONDO:patterns/rare]
xref: GARD:19476 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98496 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005244

[Term]
id: MONDO:0020127
name: hereditary peripheral neuropathy
def: "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual." []
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:10711", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98497"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic peripheral neuropathy" EXACT [MONDO:patterns/genetic]
xref: GARD:10711 {source="MONDO:GARD"}
xref: MEDGEN:1825937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98497 {source="MONDO:equivalentTo"}
xref: UMLS:C5681733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825937"}
is_a: MONDO:0005244 {source="MONDO:Redundant", source="Orphanet:98497"} ! peripheral neuropathy
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020126"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI

[Term]
id: MONDO:0020128
name: motor neuron disorder
def: "A disease involving the motor neuron." [MONDO:patterns/location_top]
subset: disease_grouping
subset: gard_rare {source="GARD:19477", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98503"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior horn cell disease" EXACT [Orphanet:98503]
synonym: "disease of motor neuron" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of motor neuron" EXACT []
synonym: "disorder of motor neuron" EXACT [MONDO:patterns/location_top]
synonym: "motor neuron disease" EXACT [MONDO:0005270, MONDO:patterns/location]
synonym: "motor neuron disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: DOID:231 {source="EFO:0003782", source="MONDO:equivalentTo"}
xref: EFO:0003782 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19477 {source="MONDO:GARD"}
xref: ICD10CM:G12.2 {source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231", source="Orphanet:98503/e"}
xref: ICD10CM:G12.20 {source="DOID:231"}
xref: icd11.foundation:661720689 {source="Orphanet:98503", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:335.2 {source="EFO:0003782", source="DOID:231"}
xref: ICD9:335.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:335.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10028003 {source="Orphanet:98503", source="Orphanet:98503/e"}
xref: MEDGEN:38785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016472 {source="EFO:0003782", source="Orphanet:98503", source="MONDO:equivalentTo", source="DOID:231", source="Orphanet:98503/e"}
xref: Orphanet:98503 {source="MONDO:equivalentTo"}
xref: SCTID:155015007 {source="DOID:231"}
xref: SCTID:192888001 {source="DOID:231"}
xref: SCTID:192889009 {source="DOID:231"}
xref: SCTID:192890000 {source="DOID:231"}
xref: SCTID:37340000 {source="EFO:0003782", source="MONDO:equivalentTo", source="DOID:231"}
xref: UMLS:C0085084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38785"}
is_a: MONDO:0005559 {source="DOID:231", source="EFO:0003782", source="https://github.com/monarch-initiative/mondo/issues/1588"} ! neurodegenerative disease
is_a: MONDO:0019056 {source="MESH:D016472", source="Orphanet:98503"} ! neuromuscular disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location CL:0000100 ! motor neuron

[Term]
id: MONDO:0020129
name: acquired motor neuron disease
def: "An instance of motor neuron disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: disease_grouping
subset: gard_rare {source="GARD:19479", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98506"}
subset: rare
synonym: "acquired anterior horn cell disease" EXACT [Orphanet:98506]
synonym: "acquired motor neuron disease" EXACT [MONDO:patterns/acquired]
xref: GARD:19479 {source="MONDO:GARD"}
xref: MEDGEN:1842733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98506 {source="MONDO:equivalentTo"}
xref: UMLS:C5680367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842733"}
is_a: MONDO:0020128 {source="MONDO:Redundant", source="Orphanet:98506"} ! motor neuron disorder
intersection_of: MONDO:0020128 ! motor neuron disorder
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0020130
name: obsolete malformation of the cerebellar vermis
subset: ordo_group_of_disorders {source="Orphanet:98514"}
xref: GARD:19480 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98514 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020131
name: obsolete malformation of the cerebellar hemispheres
subset: ordo_group_of_disorders {source="Orphanet:98516"}
xref: GARD:19481 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.3 {source="Orphanet:98516", source="Orphanet:98516/ntbt"}
xref: Orphanet:98516 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020132
name: obsolete cranial nerve and nuclear aplasia
subset: ordo_group_of_disorders {source="Orphanet:98518"}
xref: GARD:19482 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98518 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:98518", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020133
name: obsolete posterior fossa malformation
subset: ordo_group_of_disorders {source="Orphanet:98519"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19483 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98519 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:98519", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020134
name: cystic malformation of the posterior fossa
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:783289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98520 {source="MONDO:equivalentObsolete"}
xref: SCTID:35111000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C3662134 {source="MONDO:equivalentTo", source="MEDGEN:783289", source="MONDO:MEDGEN"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020135
name: pontocerebellar hypoplasia
def: "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." [Orphanet:98523]
subset: disease_grouping
subset: gard_rare {source="GARD:10977", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1596"}
subset: ordo_group_of_disorders {source="Orphanet:98523"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "isolated pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165]
synonym: "nonsyndromic pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165, Orphanet:98523]
synonym: "PCH" EXACT ABBREVIATION [DOID:0060264, Orphanet:98523]
synonym: "pontocerebellar hypoplasia" EXACT CLINGEN_LABEL [MONDO:0000730]
synonym: "pontoneocerebellar atrophy" EXACT [Orphanet:98523]
synonym: "pontoneocerebllar hypoplasia" EXACT [Orphanet:98523]
xref: DOID:0060264 {source="MONDO:equivalentTo"}
xref: GARD:10977 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:98523", source="Orphanet:98523/attributed", source="Orphanet:98523/ntbt"}
xref: icd11.foundation:1565266279 {source="Orphanet:98523", source="MONDO:equivalentTo"}
xref: MEDGEN:224703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580383 {source="DOID:0060264", source="MONDO:equivalentTo"}
xref: NORD:1596 {source="MONDO:NORD"}
xref: OMIMPS:607596 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:98523 {source="MONDO:equivalentTo", source="GARD:0010977"}
xref: SCTID:45163000 {source="DOID:0060264", source="MONDO:equivalentTo"}
xref: UMLS:C1261175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224703"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:98523", source="Orphanet:98523/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607596"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia" xsd:anyURI {source="GARD:0010977"}

[Term]
id: MONDO:0020136
name: obsolete neurodegenerative disease with dementia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98534"}
xref: GARD:19484 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98534 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1498" xsd:anyURI
is_obsolete: true
consider: MONDO:0005559

[Term]
id: MONDO:0020137
name: obsolete frontotemporal degeneration with dementia
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease'
subset: ordo_group_of_disorders {source="Orphanet:98535"}
xref: GARD:19485 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G31.0 {source="Orphanet:98535/ntbt", source="Orphanet:98535"}
xref: Orphanet:98535 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005559

[Term]
id: MONDO:0020138
name: obsolete ataxia with dementia
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001251 Ataxia
subset: ordo_group_of_disorders {source="Orphanet:98538"}
xref: GARD:19486 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98538 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: HP:0001251

[Term]
id: MONDO:0020139
name: obsolete early-onset ataxia with dementia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98539"}
xref: GARD:19487 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98539 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0020140
name: obsolete late-onset ataxia with dementia
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98540"}
xref: GARD:19488 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98540 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0020141
name: obsolete infectious disease with dementia
comment: Dementia should be a feature, not a superclass.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98542"}
xref: GARD:19489 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98542 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1954" xsd:anyURI
is_obsolete: true
consider: MONDO:0005550

[Term]
id: MONDO:0020142
name: obsolete metabolic disease with dementia
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
subset: ordo_group_of_disorders {source="Orphanet:98543"}
xref: GARD:19490 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98543 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0020143
name: cerebral lipidosis with dementia
subset: disease_grouping
subset: gard_rare {source="GARD:19491", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98544"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral lipidosis" EXACT [MONDO:0001107]
xref: DOID:10742 {source="MONDO:equivalentTo"}
xref: GARD:19491 {source="MONDO:GARD"}
xref: ICD9:330.1 {source="DOID:10742", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:1825994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98544 {source="MONDO:equivalentTo"}
xref: SCTID:16517004 {source="DOID:10742", source="MONDO:equivalentTo"}
xref: SCTID:192786008 {source="DOID:10742"}
xref: SCTID:192789001 {source="DOID:10742"}
xref: UMLS:C5681730 {source="MEDGEN:1825994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="DOID:10742/inferred"} ! brain disorder
is_a: MONDO:0015547 ! hereditary dementia
is_a: MONDO:0019245 ! lysosomal lipid storage disorder

[Term]
id: MONDO:0020144
name: obsolete cerebrovascular dementia
subset: ordo_group_of_disorders {source="Orphanet:98549"}
subset: otar {source="MONDO:OTAR"}
synonym: "rare cerebrovascular dementia" RELATED [Orphanet:98549]
xref: GARD:19492 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98549 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6695" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020145
name: obsolete developmental defect of the eye
subset: ordo_group_of_disorders {source="Orphanet:98553"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:16857 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q10-Q18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:98553 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020146
name: obsolete major induction processes eye anomaly
xref: Orphanet:98554 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020147
name: obsolete anophthalmia-microphthalmia syndrome
subset: ordo_group_of_disorders {source="Orphanet:98555"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19493 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q11.0 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"}
xref: ICD10CM:Q11.1 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"}
xref: ICD10CM:Q11.2 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"}
xref: Orphanet:98555 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020148
name: obsolete syndromic aniridia
def: "OBSOLETE. A aniridia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98557"}
subset: otar {source="MONDO:OTAR"}
synonym: "syndrome associated with aniridia" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic aniridia" EXACT [MONDO:patterns/syndromic]
xref: GARD:19494 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98557 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020149
name: obsolete rare eye disease due to a differentiation anomaly
subset: disease_grouping
xref: Orphanet:98558 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020150
name: obsolete obsolete rare palpebral, lacrimal system and conjunctival disease
comment: Obsolete in Orphanet
xref: Orphanet:98559 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020151
name: obsolete rare palpebral disease
def: "OBSOLETE. Any of the forms of eyelid disease that have a rare incidence." [MONDO:patterns/rare]
subset: ordo_group_of_disorders {source="Orphanet:98560"}
synonym: "rare eyelid disease" EXACT [MONDO:patterns/rare]
xref: GARD:19495 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98560 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0003382

[Term]
id: MONDO:0020152
name: obsolete rare eyelid malformation
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98561"}
synonym: "eyelid malformation" RELATED [Orphanet:98561]
xref: GARD:19496 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98561 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020153
name: cryptophthalmia
def: "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure." [NCIT:C124520]
subset: disease_grouping
subset: gard_rare {source="GARD:10505", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98562"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cryptophthalmos" EXACT [NCIT:C124520]
xref: DOID:0111716 {source="MONDO:equivalentTo"}
xref: GARD:10505 {source="MONDO:GARD"}
xref: icd11.foundation:740223582 {source="MONDO:equivalentTo", source="Orphanet:98562"}
xref: ICD9:743.06 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:81386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124520 {source="MONDO:equivalentTo"}
xref: Orphanet:98562 {source="MONDO:equivalentTo"}
xref: SCTID:400951005 {source="MONDO:equivalentTo"}
xref: UMLS:C0311249 {source="MEDGEN:81386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003382 {source="MONDO:0020152-obsoleted"} ! eyelid disorder

[Term]
id: MONDO:0020154
name: obsolete microblepharon-ablephara syndrome
subset: ordo_group_of_disorders {source="Orphanet:98563"}
xref: GARD:19497 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q10.3 {source="Orphanet:98563/attributed", source="Orphanet:98563/ntbt", source="Orphanet:98563"}
xref: Orphanet:98563 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020155
name: obsolete eyelid border anomaly
subset: ordo_group_of_disorders {source="Orphanet:98564"}
xref: GARD:19498 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98564 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020156
name: obsolete syndromic ankyloblepharon
subset: ordo_group_of_disorders {source="Orphanet:98565"}
xref: GARD:19499 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98565 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020157
name: obsolete syndromic palpebral coloboma
subset: ordo_group_of_disorders {source="Orphanet:98566"}
xref: GARD:19500 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98566 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020158
name: obsolete eyelids malposition disorder
subset: ordo_group_of_disorders {source="Orphanet:98567"}
xref: GARD:19501 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98567 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020159
name: congenital entropion
subset: disease_grouping
xref: ICD10CM:Q10.2
xref: MedDRA:10014923 {source="Orphanet:98568", source="Orphanet:98568/e"}
xref: MEDGEN:540011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98568 {source="MONDO:equivalentObsolete"}
xref: SCTID:20392000 {source="MONDO:equivalentTo"}
xref: UMLS:C0266579 {source="MEDGEN:540011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001519 {source="https://orcid.org/0000-0002-6601-2165"} ! entropion
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020160
name: obsolete secondary entropion
xref: ICD10CM:H02.0 {source="Orphanet:98569/attributed", source="Orphanet:98569/ntbt", source="Orphanet:98569"}
xref: Orphanet:98569 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020161
name: congenital ectropion
subset: disease_grouping
subset: gard_rare {source="GARD:19502", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98570"}
subset: rare
xref: GARD:19502 {source="MONDO:GARD"}
xref: ICD10CM:Q10.1 {source="Orphanet:98570/e", source="Orphanet:98570/specific", source="MONDO:equivalentTo", source="Orphanet:98570"}
xref: icd11.foundation:945558601 {source="MONDO:equivalentTo", source="Orphanet:98570"}
xref: MEDGEN:540010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98570 {source="MONDO:equivalentTo"}
xref: SCTID:26590002 {source="MONDO:equivalentTo"}
xref: UMLS:C0266578 {source="MEDGEN:540010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002043 {source="https://orcid.org/0000-0002-6601-2165"} ! ectropion
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020162
name: obsolete secondary ectropion
subset: ordo_group_of_disorders {source="Orphanet:98571"}
xref: GARD:19503 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H02.1 {source="Orphanet:98571/attributed", source="Orphanet:98571/ntbt", source="Orphanet:98571"}
xref: Orphanet:98571 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020163
name: obsolete canthal anomaly
xref: Orphanet:98572 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020164
name: obsolete epicanthal fold
subset: otar {source="MONDO:OTAR"}
xref: ICD10CM:Q10.3 {source="Orphanet:98573/index", source="Orphanet:98573/ntbt", source="Orphanet:98573"}
xref: Orphanet:98573 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020165
name: obsolete syndromic epicanthus
subset: ordo_group_of_disorders {source="Orphanet:98574"}
xref: GARD:19504 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98574 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020166
name: obsolete telecanthus
is_obsolete: true
replaced_by: MONDO:0008537

[Term]
id: MONDO:0020167
name: obsolete malposition of external canthus
subset: ordo_group_of_disorders {source="Orphanet:98576"}
xref: GARD:19506 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q10.3 {source="Orphanet:98576", source="Orphanet:98576/attributed", source="Orphanet:98576/ntbt"}
xref: Orphanet:98576 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020168
name: obsolete kinetic eyelid anomaly
comment: Obsolete in Orphanet
xref: Orphanet:98577 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0003382

[Term]
id: MONDO:0020169
name: obsolete rare disorder with ptosis
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98578"}
xref: GARD:19507 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98578 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true
consider: MedDRA:10015995 {source="Orphanet:98578", source="Orphanet:98578/e"}
consider: MedDRA:10037272 {source="Orphanet:98578", source="Orphanet:98578/e"}
consider: MESH:D001763 {source="Orphanet:98578", source="MONDO:relatedTo", source="Orphanet:98578/e"}

[Term]
id: MONDO:0020170
name: obsolete congenital upper palpebral retraction
comment: Obsolete in Orphanet
xref: ICD10CM:H02.5 {source="Orphanet:98579/attributed", source="Orphanet:98579/ntbt", source="Orphanet:98579"}
xref: Orphanet:98579 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0003382

[Term]
id: MONDO:0020171
name: obsolete palpebral tumor
is_obsolete: true
replaced_by: MONDO:0002235

[Term]
id: MONDO:0020172
name: palpebral epidermal tumor
def: "A neoplasm (disease) that involves the skin of eyelid." [MONDO:patterns/location]
subset: disease_grouping
synonym: "neoplasm of skin of eyelid" EXACT [MONDO:patterns/neoplasm]
synonym: "skin of eyelid neoplasm" EXACT []
synonym: "skin of eyelid neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "skin of eyelid tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "skin of eyelid tumour" EXACT OMO:0003005 []
synonym: "tumor of skin of eyelid" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of skin of eyelid" EXACT OMO:0003005 []
xref: MEDGEN:712469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98581 {source="MONDO:equivalentObsolete"}
xref: SCTID:126499002 {source="MONDO:equivalentTo"}
xref: UMLS:C1290083 {source="MEDGEN:712469", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="Orphanet:98581"} ! eyelid neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001457 ! skin of eyelid

[Term]
id: MONDO:0020173
name: benign tumor of palpebral epidermis
def: "A benign neoplasm that involves the skin of eyelid." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: disease_grouping
subset: obsoletion_candidate
synonym: "skin of eyelid benign neoplasm" EXACT [MONDO:patterns/location]
xref: Orphanet:98582 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0020172 {source="MONDO:Redundant", source="Orphanet:98582"} ! palpebral epidermal tumor
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001457 ! skin of eyelid
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020174
name: obsolete precancerous lesion of palpebral epidermis
def: "OBSOLETE. A precancerous condition that involves the skin of eyelid." [MONDO:patterns/location]
synonym: "skin of eyelid precancerous condition" EXACT [MONDO:patterns/location]
xref: Orphanet:98583 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020175
name: malignant tumor of palpebral epidermis
def: "A cancer that involves the skin of eyelid." [MONDO:patterns/location]
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0021313 eyelid cancer
subset: disease_grouping
subset: obsoletion_candidate
synonym: "cancer of skin of eyelid" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of skin of eyelid" EXACT [MONDO:patterns/cancer]
synonym: "malignant skin of eyelid neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "skin of eyelid cancer" EXACT [MONDO:patterns/location]
xref: Orphanet:98584 {source="MONDO:equivalentObsolete"}
xref: SCTID:423425006 {source="MONDO:equivalentTo"}
is_a: MONDO:0020172 {source="MONDO:Redundant", source="Orphanet:98584"} ! palpebral epidermal tumor
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001457 ! skin of eyelid
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7698" xsd:anyURI
property_value: IAO:0006012 "2024-08-01" xsd:string

[Term]
id: MONDO:0020176
name: obsolete palpebral sebaceous gland tumor
def: "OBSOLETE. A neoplasm (disease) that involves the sebaceous gland of eyelid." [MONDO:patterns/location]
synonym: "neoplasm of sebaceous gland of eyelid" EXACT [MONDO:patterns/neoplasm]
synonym: "sebaceous gland of eyelid neoplasm" EXACT []
synonym: "sebaceous gland of eyelid neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sebaceous gland of eyelid tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "sebaceous gland of eyelid tumour" EXACT OMO:0003005 []
synonym: "tumor of sebaceous gland of eyelid" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of sebaceous gland of eyelid" EXACT OMO:0003005 []
xref: Orphanet:98585 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020177
name: obsolete pigmented palpebral tumor
synonym: "pigmented eyelid tumor" EXACT [MONDO:patterns/location]
synonym: "pigmented eyelid tumour" EXACT OMO:0003005 []
synonym: "pigmented palpebral neoplasm" EXACT [MONDO:patterns/location]
xref: Orphanet:98586 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020178
name: obsolete palpebral lentiginosis
def: "OBSOLETE. A lentigo that involves the skin of eyelid." [MONDO:patterns/location]
synonym: "skin of eyelid lentigo" EXACT [MONDO:patterns/location]
xref: Orphanet:98587 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020179
name: palpebral nevus
def: "A melanocytic nevus that involves the skin of eyelid." [MONDO:patterns/location]
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "eyelid nevus" EXACT [NCIT:C3880]
synonym: "melanocytic nevus of skin of eyelid" EXACT [MONDO:design_pattern]
synonym: "nevus of eyelid" EXACT [NCIT:C3880]
synonym: "nevus of the eyelid" EXACT [NCIT:C3880]
synonym: "skin of eyelid melanocytic nevus" EXACT [MONDO:patterns/location]
xref: MEDGEN:65985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3880 {source="MONDO:equivalentTo"}
xref: Orphanet:98588 {source="MONDO:equivalentObsolete"}
xref: SCTID:231827008 {source="MONDO:equivalentTo"}
xref: UMLS:C0239460 {source="MEDGEN:65985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C3880", source="Orphanet:98588/inferred"} ! eyelid neoplasm
is_a: MONDO:0005073 {source="MONDO:Redundant", source="NCIT:C3880"} ! melanocytic nevus
is_a: MONDO:0021583 {source="MONDO:Redundant", source="NCIT:C3880"} ! melanocytic skin neoplasm
intersection_of: MONDO:0005073 ! melanocytic nevus
intersection_of: disease_has_location UBERON:0001457 ! skin of eyelid
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0020180
name: obsolete palpebral piliary tumor
xref: Orphanet:98590 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020181
name: obsolete mesenchymatous palpebral tumor
xref: Orphanet:98591 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020182
name: obsolete palpebral tumor with a vascular malformation
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: eyelid neoplasm'
xref: Orphanet:98592 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002235

[Term]
id: MONDO:0020183
name: neurogenic palpebral tumor
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: Orphanet:98593 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0002235 {source="Orphanet:98593"} ! eyelid neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020184
name: obsolete rare eyebrow/eyelashes anomaly
comment: Editor note: does not align with anatomy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98594"}
xref: GARD:19508 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98594 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
consider: HP:0000499
consider: HP:0000534

[Term]
id: MONDO:0020185
name: obsolete eyebrow/eyelashes hypertrichosis
subset: disease_grouping
xref: ICD10CM:L68.2 {source="Orphanet:98595/attributed", source="Orphanet:98595/ntbt", source="Orphanet:98595"}
xref: Orphanet:98595 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020186
name: obsolete eyebrow hypertrophy
subset: disease_grouping
xref: Orphanet:98596 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020187
name: obsolete eyelashes hypertrophy
subset: disease_grouping
synonym: "eyelashes polytrichia" EXACT [Orphanet:98597]
synonym: "eyelashes trichomegalia" EXACT [Orphanet:98597]
xref: Orphanet:98597 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020188
name: obsolete congenital absence of the eyebrow/eyelashes
subset: disease_grouping
xref: Orphanet:98598 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
is_obsolete: true
consider: HP:0000653
consider: HP:0002223

[Term]
id: MONDO:0020189
name: obsolete eyebrow/eyelashes structural anomaly
subset: disease_grouping
xref: Orphanet:98599 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
is_obsolete: true
consider: HP:0000499
consider: HP:0000534

[Term]
id: MONDO:0020190
name: obsolete eyebrow/eyelashes distichiasis
subset: disease_grouping
xref: Orphanet:98600 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
is_obsolete: true
consider: HP:0009743

[Term]
id: MONDO:0020191
name: obsolete eyebrow/eyelashes pigmentation anomaly
subset: disease_grouping
xref: Orphanet:98601 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI
is_obsolete: true
consider: HP:0002226
consider: HP:0002227

[Term]
id: MONDO:0020192
name: obsolete rare lacrimal system disease
def: "OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare incidence." [MONDO:patterns/rare]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98602"}
synonym: "rare lacrimal apparatus disease" EXACT [MONDO:patterns/rare]
xref: GARD:19509 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98602 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001854

[Term]
id: MONDO:0020193
name: obsolete secretory apparatus of the lacrimal system anomaly
synonym: "disease of lacrimal gland" BROAD [MONDO:patterns/location_top]
synonym: "disorder of lacrimal gland" BROAD [MONDO:patterns/location_top]
synonym: "lacrimal gland disease" BROAD [MONDO:patterns/location]
xref: Orphanet:98603 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020194
name: obsolete congenital alacrima
subset: ordo_group_of_disorders {source="Orphanet:98604"}
xref: GARD:19510 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98604 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020195
name: obsolete excretory apparatus of the lacrimal system anomaly
subset: ordo_group_of_disorders {source="Orphanet:98605"}
xref: GARD:19511 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98605 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020196
name: obsolete anomaly of the secretory and excretory apparatus of the lacrimal system
xref: Orphanet:98608 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020197
name: obsolete EEC syndrome and related syndrome
subset: ordo_group_of_disorders {source="Orphanet:98609"}
synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders" EXACT [Orphanet:98609]
xref: GARD:19512 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98609 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020198
name: obsolete rare conjunctival disease
def: "OBSOLETE. Rare conjunctival disease." []
subset: ordo_group_of_disorders {source="Orphanet:98610"}
synonym: "rare conjunctival disease" EXACT [MONDO:patterns/rare]
xref: GARD:19513 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98610 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002932

[Term]
id: MONDO:0020199
name: obsolete conjunctival vascular anomaly
comment: Obsolete in Orphanet
xref: Orphanet:98611 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0006170

[Term]
id: MONDO:0020200
name: obsolete conjunctival hemangioma or hemolymphangioma
comment: Obsolete in Orphanet
xref: Orphanet:98612 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0006170

[Term]
id: MONDO:0020201
name: obsolete conjunctival telangiectasia
comment: Obsolete in Orphanet
synonym: "conjunctival telangiectasia" EXACT [MONDO:ambiguous]
synonym: "obsolete conjunctival telangiectasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: HP:0000524 {source="MONDO:otherHierarchy"}
xref: MedDRA:10072143 {source="Orphanet:98613", source="Orphanet:98613/e"}
xref: Orphanet:98613 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000589 "obsolete conjunctival telangiectasia (disease)" xsd:string
is_obsolete: true
consider: MONDO:0006170

[Term]
id: MONDO:0020202
name: obsolete conjunctival lymphangiectasia
comment: Obsolete in Orphanet
xref: ICD9:372.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:98614 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:231871007 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0006170

[Term]
id: MONDO:0020203
name: obsolete pigmented conjunctival lesion
xref: Orphanet:98615 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020204
name: conjunctival tumor
def: "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma." [NCIT:C2961]
subset: disease_grouping
subset: otar {source="MONDO:OTAR"}
synonym: "conjunctiva neoplasm" EXACT [NCIT:C2961]
synonym: "conjunctiva neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "conjunctiva tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2961]
synonym: "conjunctiva tumour" EXACT OMO:0003005 []
synonym: "conjunctival neoplasm" EXACT [NCIT:C2961]
synonym: "conjunctival neoplasms" EXACT [NCIT:C2961]
synonym: "conjunctival tumor" EXACT [NCIT:C2961]
synonym: "neoplasm of conjunctiva" EXACT [MONDO:patterns/neoplasm, NCIT:C2961]
synonym: "neoplasm of the conjunctiva" EXACT [NCIT:C2961]
synonym: "tumor of conjunctiva" EXACT [MONDO:patterns/neoplasm, NCIT:C2961]
synonym: "tumor of the conjunctiva" EXACT [NCIT:C2961]
synonym: "tumour of conjunctiva" EXACT OMO:0003005 []
synonym: "tumour of the conjunctiva" EXACT OMO:0003005 []
xref: MEDGEN:3208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2961 {source="MONDO:equivalentTo"}
xref: Orphanet:98616 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0009761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3208"}
is_a: MONDO:0006170 {source="NCIT:C2961"} ! conjunctival disorder
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C2961"} ! eye neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001811 ! conjunctiva
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020198"} ! rare

[Term]
id: MONDO:0020205
name: obsolete bulbar conjunctival dermoid or conjunctival dermolipoma
xref: Orphanet:98617 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020206
name: obsolete rare refraction anomaly
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98618"}
xref: GARD:19514 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98618 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020207
name: obsolete rare isolated myopia
def: "OBSOLETE. Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness." [Orphanet:98619]
subset: ordo_disorder {source="Orphanet:98619"}
xref: GARD:16859 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98619 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001384

[Term]
id: MONDO:0020208
name: obsolete syndromic myopia
def: "OBSOLETE. A myopia (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic]
synonym: "syndrome associated with myopia (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic myopia (disease)" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98620 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0001384

[Term]
id: MONDO:0020209
name: obsolete rare hyperopia and astigmatism
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98621"}
xref: GARD:19515 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98621 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020210
name: obsolete syndromic hyperopia
def: "OBSOLETE. A hyperopia that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98622"}
synonym: "syndrome associated with hyperopia" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic hyperopia" EXACT [MONDO:patterns/syndromic]
xref: GARD:19516 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98622 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020211
name: obsolete syndromic keratoconus
def: "OBSOLETE. A keratoconus (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98623"}
synonym: "syndrome associated with keratoconus (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic keratoconus (disease)" EXACT [MONDO:patterns/syndromic]
xref: GARD:19517 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98623 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020212
name: superficial corneal dystrophy
def: "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." [Orphanet:98625]
subset: disease_grouping
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98625"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anterior corneal dystrophy" EXACT [Orphanet:98625]
synonym: "corneal epithelium corneal dystrophy (disease)" EXACT [MONDO:patterns/location]
synonym: "dystrophy of anterior cornea" EXACT []
xref: ICD10CM:H18.5 {source="Orphanet:98625", source="Orphanet:98625/attributed", source="Orphanet:98625/ntbt"}
xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:746687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98625 {source="MONDO:equivalentTo"}
xref: SCTID:430888006 {source="MONDO:equivalentTo"}
xref: UMLS:C2315777 {source="MEDGEN:746687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018102 {source="MONDO:Entailed", source="Orphanet:98625"} ! corneal dystrophy

[Term]
id: MONDO:0020213
name: stromal corneal dystrophy
def: "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." [Orphanet:98626]
subset: disease_grouping
subset: gard_rare {source="GARD:19519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98626"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy (disease) of substantia propria of cornea" EXACT []
synonym: "corneal stromal dystrophy" EXACT [MONDO:0000765]
synonym: "stromal dystrophy" RELATED [DOID:0060442]
synonym: "substantia propria of cornea corneal dystrophy (disease)" EXACT [MONDO:patterns/location]
xref: DOID:0060442 {source="MONDO:equivalentTo"}
xref: GARD:19519 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98626", source="Orphanet:98626/attributed", source="Orphanet:98626/ntbt"}
xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:20973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98626 {source="MONDO:equivalentTo"}
xref: SCTID:231931001 {source="MONDO:equivalentTo"}
xref: UMLS:C0038457 {source="MEDGEN:20973", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018102 {source="DOID:0060442", source="MONDO:Redundant", source="Orphanet:98626"} ! corneal dystrophy
intersection_of: MONDO:0018102 ! corneal dystrophy
intersection_of: disease_has_location UBERON:0001777 ! substantia propria of cornea

[Term]
id: MONDO:0020214
name: posterior corneal dystrophy
def: "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." [Orphanet:98627]
subset: disease_grouping
subset: gard_rare {source="GARD:19520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98627"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19520 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98627", source="Orphanet:98627/attributed", source="Orphanet:98627/ntbt"}
xref: ICD9:371.58 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:810969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98627 {source="MONDO:equivalentTo"}
xref: SCTID:35091000119101 {source="MONDO:equivalentTo"}
xref: UMLS:C2063478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:810969"}
is_a: MONDO:0018102 {source="Orphanet:98627"} ! corneal dystrophy
relationship: disease_has_location UBERON:0004367 ! Descemet's membrane

[Term]
id: MONDO:0020215
name: obsolete syndromic corneal dystrophy
def: "OBSOLETE. A corneal dystrophy (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98628"}
synonym: "syndrome associated with corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic]
xref: GARD:19521 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98628 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020216
name: obsolete secondary dysgenetic glaucoma
def: "OBSOLETE. A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma." [http://dx.doi.org/10.1155/2015/781294]
subset: ordo_group_of_disorders {source="Orphanet:98631"}
subset: otar {source="MONDO:OTAR"}
synonym: "secondary congenital glaucoma" RELATED [http://dx.doi.org/10.1155/2015/781294]
xref: GARD:19522 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98631 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020217
name: obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: secondary dysgenetic glaucoma'
synonym: "glaucoma associated with neural crest cell migration anomaly" RELATED [Orphanet:98632]
xref: Orphanet:98632 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0020216

[Term]
id: MONDO:0020218
name: obsolete goniodysgenesis
comment: Reason: out of scope. Obsoleted in Orphanet. Term to consider: None
xref: Orphanet:98633 {source="MONDO:obsoleteEquivalentObsolete"}
xref: SCTID:251730004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4397" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020219
name: obsolete corneogoniodysgenesis
subset: ordo_group_of_disorders {source="Orphanet:98635"}
xref: GARD:19523 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98635 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020220
name: obsolete corneoiridogoniodysgenesis
comment: Reason: out of scope. Obsoleted in Orphanet. Term to consider: None
xref: Orphanet:98636 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4396" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020221
name: obsolete secondary glaucoma due to a proliferation and differentiation anomaly
subset: disease_grouping
xref: Orphanet:98637 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020222
name: obsolete rare disease with glaucoma as a major feature
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98638"}
xref: GARD:19524 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98638 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020223
name: obsolete lens and zonula anomaly
subset: disease_grouping
subset: implicit_genetic_in_ordo
subset: ordo_group_of_disorders {source="Orphanet:98639"}
xref: GARD:19525 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98639 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020224
name: obsolete rare cataract
def: "OBSOLETE. Rare cataract." []
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98640"}
synonym: "rare cataract" EXACT []
synonym: "rare cataract (disease)" EXACT [MONDO:patterns/rare]
xref: GARD:19526 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98640 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005129

[Term]
id: MONDO:0020225
name: obsolete syndromic cataract
def: "OBSOLETE. A cataract (disease) that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98641"}
synonym: "syndrome associated with cataract (disease)" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic cataract (disease)" EXACT [MONDO:patterns/syndromic]
xref: GARD:19527 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98641 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0005129

[Term]
id: MONDO:0020226
name: obsolete chromosomal anomaly with cataract
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: chromosomal disorder'
subset: ordo_group_of_disorders {source="Orphanet:98642"}
xref: GARD:19528 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98642 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0019040

[Term]
id: MONDO:0020227
name: obsolete systemic disease with cataract
comment: This is a grouping class that is considered out of scope.
subset: disease_grouping
xref: Orphanet:98643 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI
is_obsolete: true
consider: MONDO:0005129

[Term]
id: MONDO:0020228
name: obsolete cataract associated with a metabolic disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic cataract'
subset: ordo_group_of_disorders {source="Orphanet:98644"}
synonym: "metabolic disease with cataract" EXACT [Orphanet:98644]
xref: GARD:19529 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98644 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0020225

[Term]
id: MONDO:0020229
name: obsolete cerebral disease with cataract
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: nervous system disorder'
xref: Orphanet:98645 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005071

[Term]
id: MONDO:0020230
name: obsolete renal disease with cataract
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: kidney disease'
subset: ordo_group_of_disorders {source="Orphanet:98646"}
xref: GARD:19530 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98646 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005240

[Term]
id: MONDO:0020231
name: obsolete cardiac disease with cataract
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: heart disease'
xref: Orphanet:98647 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005267

[Term]
id: MONDO:0020232
name: obsolete musculoskeletal disease with cataract
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: musculoskeletal system disease'
subset: ordo_group_of_disorders {source="Orphanet:98648"}
xref: GARD:19531 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98648 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002081

[Term]
id: MONDO:0020233
name: obsolete dentocutaneous disease with cataract
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: integumentary system disease'
subset: ordo_group_of_disorders {source="Orphanet:98649"}
xref: GARD:19532 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98649 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002051

[Term]
id: MONDO:0020234
name: obsolete craniofacial anomaly with cataract
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98650"}
xref: GARD:19533 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98650 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0020235
name: obsolete lens size anomaly
subset: ordo_group_of_disorders {source="Orphanet:98652"}
xref: GARD:19534 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98652 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020236
name: obsolete lens position anomaly
def: "OBSOLETE. Partial or complete displacement of the crystalline lens from its normal position in the eye." [NCIT:C125484]
subset: ordo_group_of_disorders {source="Orphanet:98653"}
synonym: "ectopia lentis" EXACT [NCIT:C125484]
xref: GARD:19535 {source="MONDO:obsoleteEquivalent"}
xref: HP:0001083
xref: ICD10CM:Q12.1 {source="Orphanet:98653", source="Orphanet:98653/attributed", source="Orphanet:98653/ntbt"}
xref: NCIT:C125484 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98653 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI
is_obsolete: true
consider: HP:0001083

[Term]
id: MONDO:0020237
name: obsolete lens shape anomaly
subset: ordo_group_of_disorders {source="Orphanet:98655"}
xref: GARD:19536 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98655 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020238
name: obsolete inherited vitreous-retinal disease
synonym: "genetic vitreoretinal disease" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "genetic vitreous-retinal disease" EXACT [Orphanet:98657]
xref: Orphanet:98657 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020239
name: obsolete color-vision disease
is_obsolete: true
replaced_by: MONDO:0001703

[Term]
id: MONDO:0020240
name: obsolete syndromic retinitis pigmentosa
def: "OBSOLETE. A retinitis pigmentosa that is part of a larger syndrome." [MONDO:patterns/syndromic]
subset: ordo_group_of_disorders {source="Orphanet:98661"}
subset: otar {source="MONDO:OTAR"}
synonym: "syndrome associated with retinitis pigmentosa" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic retinitis pigmentosa" EXACT [MONDO:patterns/syndromic]
xref: GARD:19538 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98661 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020241
name: obsolete unclassified familial retinal dystrophy
subset: disease_grouping
xref: Orphanet:98662 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0019118

[Term]
id: MONDO:0020242
name: hereditary macular dystrophy
def: "Macular dystrophy that is related to a change in a gene." [NCIT:C140264]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic macular dystrophy" EXACT []
synonym: "genetic macular dystrophy (disease)" EXACT [MONDO:patterns/genetic]
xref: ICD10CM:H35.5 {source="Orphanet:98664", source="Orphanet:98664/attributed", source="Orphanet:98664/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:137919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200931 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C140264 {source="MONDO:equivalentTo"}
xref: Orphanet:98664 {source="MONDO:equivalentObsolete"}
xref: SCTID:276436007 {source="MONDO:equivalentTo"}
xref: UMLS:C0339508 {source="MEDGEN:137919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019118 {source="MONDO:Redundant", source="NCIT:C140264", source="Orphanet:98664"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: disease_has_major_feature HP:0007754 ! Macular dystrophy

[Term]
id: MONDO:0020243
name: obsolete colobomatous and areolar dystrophy
subset: disease_grouping
xref: Orphanet:98665 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020244
name: obsolete unclassified primitive or secondary maculopathy
subset: disease_grouping
xref: Orphanet:98666 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0020242

[Term]
id: MONDO:0020245
name: obsolete disease predisposing to age-related macular degeneration
subset: disease_grouping
xref: Orphanet:98667 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6115" xsd:anyURI
is_obsolete: true
consider: MONDO:0020238

[Term]
id: MONDO:0020246
name: inherited vitreoretinopathy
subset: disease_grouping
subset: gard_rare {source="GARD:19539", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98668"}
subset: rare
xref: GARD:19539 {source="MONDO:GARD"}
xref: HP:0007773
xref: Orphanet:98668 {source="MONDO:equivalentTo"}
is_a: MONDO:0005283 {source="https://orcid.org/0000-0002-4142-7153"} ! retinal disorder
is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
intersection_of: MONDO:0003847 ! hereditary disease
intersection_of: disease_has_major_feature HP:0007773 ! Vitreoretinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0020247
name: congenital vitreoretinal dysplasia
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "vitreoretinal dysplasia" EXACT []
xref: ICD10CM:Q14.1 {source="Orphanet:98669", source="Orphanet:98669/attributed", source="Orphanet:98669/ntbt"}
xref: ICD9:743.56 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:757909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98669 {source="MONDO:equivalentObsolete"}
xref: SCTID:449866003 {source="MONDO:equivalentTo"}
xref: UMLS:C3266134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:757909"}
is_a: MONDO:0020246 {source="Orphanet:98669"} ! inherited vitreoretinopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4407" xsd:anyURI

[Term]
id: MONDO:0020248
name: vitreoretinal degeneration
subset: disease_grouping
subset: gard_rare {source="GARD:5506", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "degenerative vitreoretinopathy" EXACT [HP:0007964]
xref: GARD:5506 {source="MONDO:GARD"}
xref: HP:0007964
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:98670/inclusion", source="Orphanet:98670/ntbt", source="Orphanet:98670"}
xref: MEDGEN:87480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98670 {source="MONDO:equivalentObsolete"}
xref: SCTID:247182006 {source="MONDO:equivalentTo"}
xref: UMLS:C0344290 {source="MONDO:equivalentTo", source="MEDGEN:87480", source="MONDO:MEDGEN"}
is_a: MONDO:0001377 ! vitreous syneresis
is_a: MONDO:0020246 {source="Orphanet:98670"} ! inherited vitreoretinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4407" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration" xsd:anyURI {source="GARD:0005506"}

[Term]
id: MONDO:0020249
name: hereditary optic neuropathy
subset: disease_grouping
subset: gard_rare {source="GARD:19540", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98671"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19540 {source="MONDO:GARD"}
xref: icd11.foundation:2452831 {source="MONDO:equivalentTo", source="Orphanet:98671"}
xref: MedDRA:10061323 {source="Orphanet:98671/e", source="Orphanet:98671"}
xref: Orphanet:98671 {source="MONDO:equivalentTo"}
is_a: MONDO:0005328 {source="Orphanet:98671"} ! eye disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015107"} ! rare

[Term]
id: MONDO:0020250
name: autosomal dominant optic atrophy
def: "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." [NCIT:C84577]
subset: disease_grouping
subset: gard_rare {source="GARD:11972", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98672"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADOA" EXACT ABBREVIATION [Orphanet:98672]
synonym: "DOA" EXACT ABBREVIATION [Orphanet:98672]
synonym: "dominant optic atrophy" RELATED [GARD:0011972]
synonym: "optic atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:11972 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="Orphanet:98672/attributed", source="Orphanet:98672/ntbt", source="Orphanet:98672"}
xref: MEDGEN:1647918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D029241 {source="Orphanet:98672/e", source="MONDO:equivalentTo", source="Orphanet:98672"}
xref: NCIT:C84577 {source="MONDO:equivalentTo"}
xref: Orphanet:98672 {source="MONDO:equivalentTo"}
xref: SCTID:2065009 {source="MONDO:equivalentTo"}
xref: UMLS:C4551508 {source="MEDGEN:1647918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease
is_a: MONDO:0020249 {source="MESH:D029241/inferred", source="MONDO:Entailed", source="NCIT:C84577/inferred", source="Orphanet:98672", source="Orphanet:98672/inferred"} ! hereditary optic neuropathy
is_a: MONDO:0043878 {source="MESH:D029241", source="MONDO:Redundant", source="NCIT:C84577"} ! hereditary optic atrophy
intersection_of: MONDO:0043878 ! hereditary optic atrophy
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic HP:0000006 {source="Orphanet:98672"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0020251
name: obsolete rare strabismus and restriction syndrome
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98681"}
xref: GARD:19541 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98681 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020252
name: essential strabismus
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: Orphanet:98682 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020253
name: obsolete syndrome with a symptomatic strabismus
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
subset: ordo_group_of_disorders {source="Orphanet:98683"}
xref: GARD:19542 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98683 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0020254
name: obsolete craniostenosis associated with a strabismus
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:98684"}
xref: GARD:19543 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98684 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0020255
name: obsolete oculomotor palsy
is_obsolete: true
replaced_by: MONDO:0001309

[Term]
id: MONDO:0020256
name: obsolete congenital trochlear nerve palsy
subset: ordo_disorder {source="Orphanet:98686"}
synonym: "congenital CNIV palsy" EXACT [Orphanet:98686]
synonym: "congenital fourth cranial nerve palsy" EXACT [Orphanet:98686]
synonym: "congenital superior oblique palsy" EXACT [Orphanet:98686]
xref: GARD:19545 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H49.1 {source="Orphanet:98686", source="Orphanet:98686/attributed", source="Orphanet:98686/ntbt"}
xref: Orphanet:98686 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0015083 {source="Orphanet:98686", source="https://orcid.org/0000-0001-5208-3432"} ! nuclear oculomotor paralysis
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020257
name: supranuclear oculomotor palsy
def: "Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." [https://doi.org/10.1111/j.1468-1331.2009.02779.x, https://orcid.org/0000-0002-6601-2165]
comment: Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves
subset: disease_grouping
subset: gard_rare {source="GARD:19546", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98687"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "conjugate gaze palsy" RELATED [GARD:0008403]
synonym: "gaze palsy" RELATED [GARD:0008403]
synonym: "supranuclear disorder of eye movement" RELATED [PMID:2669857]
synonym: "supranuclear eye movement disorder" EXACT [Orphanet:98687]
synonym: "supranuclear ocular palsy" RELATED [GARD:0008403]
xref: GARD:19546 {source="MONDO:GARD"}
xref: MEDGEN:1842980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98687 {source="MONDO:equivalentTo"}
xref: UMLS:C5681698 {source="MEDGEN:1842980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001309 {source="Orphanet:98687"} ! oculomotor nerve paralysis

[Term]
id: MONDO:0020258
name: obsolete oculomotor apraxia or related oculomotor disease
subset: ordo_group_of_disorders {source="Orphanet:98688"}
xref: GARD:19547 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:855225863 {source="Orphanet:98688", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"}
xref: Orphanet:98688 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000423
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/834" xsd:anyURI
is_obsolete: true
consider: HP:0000657

[Term]
id: MONDO:0020259
name: obsolete myopathy with eye involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: myopathy
xref: Orphanet:98689 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005336

[Term]
id: MONDO:0020260
name: obsolete myasthenic syndrome with eye involvement
comment: See https://github.com/Orphanet/ORDO/issues/17
subset: disease_grouping
xref: Orphanet:98690 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020261
name: obsolete neurological disease with abnormal eye movements
comment: Obsolete in Orphanet
synonym: "abnormal eye movements" EXACT [Orphanet:98691]
xref: Orphanet:98691 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020262
name: obsolete nervous system anomaly with eye involvement
subset: disease_grouping
xref: Orphanet:98692 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020263
name: obsolete spinocerebellar ataxia with oculomotor anomaly
subset: disease_grouping
xref: Orphanet:98693 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020264
name: obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly
subset: disease_grouping
xref: Orphanet:98694 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020265
name: obsolete mitochondrial disease with eye involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder'
xref: Orphanet:98695 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0004069

[Term]
id: MONDO:0020266
name: obsolete genodermatosis with ocular features
comment: Reason: out of scope. This is an Orphanet grouping class that is obsolete in Orphanet and considered out of scope for Mondo. Term to consider: skin disease'
xref: Orphanet:98696 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005093

[Term]
id: MONDO:0020267
name: obsolete genetic keratinization disorder associated with ocular features
comment: Reason: out of scope. This is an Orphanet grouping class that is obsolete in Orphanet and considered out of scope for Mondo. Term to consider: inherited ichthyosis syndromic form'
xref: Orphanet:98697 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0017263

[Term]
id: MONDO:0020268
name: obsolete ichthyosis associated with ocular features
subset: disease_grouping
xref: Orphanet:98698 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020269
name: obsolete syndromic ichthyosis associated with ocular features
def: "OBSOLETE. A ichthyosis associated with ocular features that is part of a larger syndrome." [MONDO:patterns/syndromic]
comment: This grouping class is no longer needed.
synonym: "syndrome associated with ichthyosis associated with ocular features" EXACT [MONDO:patterns/syndromic]
synonym: "syndromic ichthyosis associated with ocular features" EXACT [MONDO:patterns/syndromic]
xref: Orphanet:98699 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020270
name: obsolete pigmentation disorder with eye involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease'
xref: Orphanet:98700 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0002254

[Term]
id: MONDO:0020271
name: obsolete phakomatosis with eye involvement
subset: disease_grouping
xref: Orphanet:98701 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true

[Term]
id: MONDO:0020272
name: obsolete connective tissue disease with eye involvement
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3594" xsd:anyURI
is_obsolete: true
consider: MONDO:0003900

[Term]
id: MONDO:0020273
name: obsolete disease with potential neoplastic degeneration associated with ocular features
comment: Reason: out of scope. This is obsolete in Orphanet and out of scope for Mondo. Term to consider: eye neoplasm'
xref: Orphanet:98703 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0021220

[Term]
id: MONDO:0020274
name: obsolete onycho-patellar syndrome with eye involvement
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: genodermatosis with ocular features'
xref: Orphanet:98704 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0020266

[Term]
id: MONDO:0020275
name: obsolete oculocutaneous or ocular albinism
def: "OBSOLETE. Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Albinism]
subset: ordo_group_of_disorders {source="Orphanet:98706"}
xref: GARD:19548 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E70.3 {source="Orphanet:98706/e", source="Orphanet:98706/specific", source="Orphanet:98706"}
xref: Orphanet:98706 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020276
name: obsolete pigmentation disorder with eye involvement, excluding albinism
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pigmentation disease'
xref: Orphanet:98708 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0006600

[Term]
id: MONDO:0020277
name: obsolete ectodermal malformation syndrome associated with ocular features
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI
is_obsolete: true
consider: MONDO:0005328

[Term]
id: MONDO:0020278
name: obsolete metabolic disease associated with ocular features
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
xref: Orphanet:98710 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0020279
name: obsolete metabolic disease with corneal opacity
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
xref: Orphanet:98711 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0020280
name: obsolete metabolic disease with cataract
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
xref: Orphanet:98712 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0020281
name: obsolete metabolic disease with pigmentary retinitis
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
xref: Orphanet:98713 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0020282
name: obsolete metabolic disease with macular cherry-red spot
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease
xref: Orphanet:98714 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066

[Term]
id: MONDO:0020283
name: uveitis
def: "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision." [NCIT:C26909]
subset: disease_grouping
subset: gard_rare {source="GARD:19549", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98715"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammation of uvea" EXACT []
synonym: "uvea inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "uveitis" EXACT [MONDO:ambiguous]
synonym: "uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:13141 {source="EFO:1001231", source="MONDO:equivalentTo"}
xref: EFO:1001231 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19549 {source="MONDO:GARD"}
xref: HP:0000554 {source="MONDO:otherHierarchy"}
xref: ICD10CM:H20.9 {source="DOID:13141"}
xref: MedDRA:10046851 {source="EFO:1001231", source="Orphanet:98715", source="Orphanet:98715/e"}
xref: MEDGEN:52961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014605 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo", source="Orphanet:98715", source="Orphanet:98715/e"}
xref: NCIT:C26909 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo"}
xref: Orphanet:98715 {source="MONDO:equivalentTo"}
xref: SCTID:128473001 {source="EFO:1001231", source="DOID:13141", source="MONDO:equivalentTo"}
xref: SCTID:155116005 {source="DOID:13141"}
xref: SCTID:193499001 {source="DOID:13141"}
xref: SCTID:267719008 {source="DOID:13141"}
xref: SCTID:75614007 {source="DOID:13141"}
xref: UMLS:C0042164 {source="MEDGEN:52961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002661 {source="DOID:13141", source="MESH:D014605", source="MONDO:Redundant", source="NCIT:C26909/inferred"} ! uveal disorder
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001768 ! uvea
property_value: IAO:0000589 "uveitis (disease)" xsd:string

[Term]
id: MONDO:0020284
name: obsolete heart position anomaly
subset: ordo_group_of_disorders {source="Orphanet:98716"}
xref: GARD:19550 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98716 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020285
name: obsolete transposition of the great arteries and conotruncal cardiac anomaly
subset: ordo_group_of_disorders {source="Orphanet:98717"}
xref: GARD:19551 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98717 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020286
name: obsolete aortic malformation
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98718"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19552 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98718 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020287
name: obsolete pulmonary artery or pulmonary branch anomaly
subset: ordo_group_of_disorders {source="Orphanet:98719"}
xref: GARD:19553 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98719 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020288
name: obsolete atrioventricular valve anomaly
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98720"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:19554 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98720 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020289
name: congenital tricuspid malformation
subset: disease_grouping
subset: gard_rare {source="GARD:19555", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98721"}
subset: rare
xref: GARD:19555 {source="MONDO:GARD"}
xref: HP:0001702 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q22.4 {source="Orphanet:98721", source="Orphanet:98721/btnt"}
xref: ICD10CM:Q22.5 {source="Orphanet:98721", source="Orphanet:98721/btnt"}
xref: ICD10CM:Q22.8 {source="Orphanet:98721", source="Orphanet:98721/btnt"}
xref: ICD10CM:Q22.9 {source="Orphanet:98721", source="Orphanet:98721/btnt"}
xref: MEDGEN:1842501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98721 {source="MONDO:equivalentTo"}
xref: UMLS:C5681691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842501"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_major_feature HP:0001702 ! Abnormal tricuspid valve morphology
relationship: disease_has_location UBERON:0002134 ! tricuspid valve
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020290
name: familial atrioventricular septal defect
def: "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." [MESH:D004694]
subset: disease_grouping
subset: gard_rare {source="GARD:802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:821"}
subset: ordo_group_of_disorders {source="Orphanet:98722"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atrioventricular canal defect" NARROW [DOID:0050651]
synonym: "Atrioventricular Septal Defect" EXACT [NORD:821]
synonym: "atrioventricular septal defect" NARROW [Orphanet:98722]
synonym: "AV septal defect" NARROW [NCIT:C101029]
synonym: "AVCD" NARROW ABBREVIATION [DOID:0050651]
synonym: "AVSD" NARROW ABBREVIATION [DOID:0050651, Orphanet:98722]
synonym: "common atrioventricular canal" NARROW [NCIT:C101029]
synonym: "common AV canal" NARROW [NCIT:C101029]
synonym: "ECD" NARROW ABBREVIATION [DOID:0050651]
synonym: "endocardial cushion defect" NARROW [DOID:0050651]
xref: DOID:0050651 {source="MONDO:equivalentTo"}
xref: GARD:802 {source="MONDO:GARD"}
xref: ICD10CM:Q21.2 {source="DOID:0050651", source="Orphanet:98722", source="Orphanet:98722/e"}
xref: ICD9:745.6 {source="DOID:0050651"}
xref: ICD9:745.60 {source="DOID:0050651", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:745.69 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D004694 {source="DOID:0050651"}
xref: NCIT:C101029 {source="MONDO:equivalentTo"}
xref: NORD:821 {source="MONDO:NORD"}
xref: OMIMPS:606215 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:98722 {source="DOID:0050651", source="MONDO:equivalentTo"}
xref: SCTID:15459006 {source="DOID:0050651", source="MONDO:equivalentTo"}
xref: SCTID:204322008 {source="DOID:0050651"}
xref: SCTID:204323003 {source="DOID:0050651"}
xref: SCTID:204326006 {source="DOID:0050651"}
xref: SCTID:204331008 {source="DOID:0050651"}
is_a: MONDO:0002078 {source="DOID:0050651", source="NCIT:C101029"} ! heart septal defect
relationship: disease_has_location UBERON:0005989 ! atrioventricular septum
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:606215"} ! inherited

[Term]
id: MONDO:0020291
name: hypoplastic right heart syndrome
def: "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia." [Orphanet:98723]
subset: disease_grouping
subset: gard_rare {source="GARD:2922", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:98723"}
subset: rare
synonym: "right hypoplastic heart syndrome" EXACT [NCIT:C99053]
xref: DOID:0070315 {source="MONDO:equivalentTo"}
xref: GARD:2922 {source="MONDO:GARD"}
xref: ICD10CM:Q22.6 {source="Orphanet:98723", source="MONDO:equivalentTo", source="Orphanet:98723/e"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10050053 {source="Orphanet:98723", source="Orphanet:98723/e"}
xref: MedDRA:10064962 {source="Orphanet:98723", source="Orphanet:98723/e"}
xref: MEDGEN:83376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99053 {source="MONDO:equivalentTo"}
xref: Orphanet:98723 {source="MONDO:equivalentTo"}
xref: SCTID:268180007 {source="MONDO:equivalentTo"}
xref: UMLS:C0344963 {source="MEDGEN:83376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C99053"} ! syndromic disease
is_a: MONDO:0019820 {source="Orphanet:98723"} ! univentricular cardiopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome" xsd:anyURI {source="GARD:0002922"}

[Term]
id: MONDO:0020292
name: congenital anomaly of the great arteries
subset: disease_grouping
subset: gard_rare {source="GARD:19556", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98724"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital aorta, aortic arch or pulmonary arteries anomaly" EXACT [Orphanet:98724]
xref: GARD:19556 {source="MONDO:GARD"}
xref: MedDRA:10061080 {source="Orphanet:98724", source="Orphanet:98724/e"}
xref: MEDGEN:798768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98724 {source="MONDO:equivalentTo"}
xref: UMLS:C0948632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:798768"}
is_a: MONDO:0019512 {source="Orphanet:98724"} ! congenital heart malformation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020293
name: obsolete ascending aorta anomaly
subset: ordo_group_of_disorders {source="Orphanet:98725"}
xref: GARD:19557 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q25.4 {source="Orphanet:98725", source="Orphanet:98725/ntbt"}
xref: Orphanet:98725 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020294
name: obsolete atrial defect and interatrial communication
subset: ordo_group_of_disorders {source="Orphanet:98727"}
synonym: "atrial defect and interauricular communication" EXACT [Orphanet:98727]
synonym: "rare atrial defect and interatrial communication" RELATED [Orphanet:98727]
xref: GARD:19558 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q21.1 {source="Orphanet:98727", source="Orphanet:98727/ntbt"}
xref: Orphanet:98727 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020295
name: congenital pulmonary veins anomaly
def: "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium." [NCIT:C110942]
subset: disease_grouping
subset: gard_rare {source="GARD:19559", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98729"}
subset: rare
synonym: "congenital anomaly of pulmonary veins" EXACT []
synonym: "pulmonary vein abnormality" RELATED []
xref: GARD:19559 {source="MONDO:GARD"}
xref: NCIT:C110942 {source="MONDO:equivalentTo"}
xref: Orphanet:98729 {source="MONDO:equivalentTo"}
xref: SCTID:111322000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005453 {source="NCIT:C110942"} ! congenital heart disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020296
name: congenital arteriovenous fistula
def: "An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth." [NCIT:C35377]
subset: disease_grouping
subset: gard_rare {source="GARD:19560", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98731"}
subset: rare
synonym: "congenital arteriovenous shunt" EXACT [MONDO:0022819]
xref: GARD:19560 {source="MONDO:GARD"}
xref: MedDRA:10003226 {source="Orphanet:98731", source="Orphanet:98731/e"}
xref: MEDGEN:137676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001164 {source="Orphanet:98731", source="MONDO:equivalentTo", source="Orphanet:98731/e"}
xref: NCIT:C35377 {source="MONDO:equivalentTo"}
xref: Orphanet:98731 {source="MONDO:equivalentTo"}
xref: SCTID:234148007 {source="MONDO:equivalentTo"}
xref: UMLS:C0332965 {source="MEDGEN:137676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024239 {source="NCIT:C35377"} ! congenital anomaly of cardiovascular system
relationship: excluded_subClassOf MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7205" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6150/congenital-arteriovenous-shunt" xsd:anyURI {source="GARD:0006150"}

[Term]
id: MONDO:0020297
name: Noonan syndrome and Noonan-related syndrome
subset: disease_grouping
subset: gard_rare {source="GARD:19561", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98733"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19561 {source="MONDO:GARD"}
xref: MEDGEN:1826127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537846 {source="MONDO:equivalentTo"}
xref: Orphanet:98733 {source="MONDO:equivalentTo"}
xref: UMLS:C5681679 {source="MEDGEN:1826127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0021060 {source="Orphanet:98733", source="https://github.com/monarch-initiative/mondo/issues/606"} ! RASopathy
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:98733", source="Orphanet:98733/inferred"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0020298
name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
subset: gard_rare {source="GARD:16861", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98754"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98754"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98754]
synonym: "UPD(15)mat" EXACT [Orphanet:98754]
xref: GARD:16861 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:98754", source="Orphanet:98754/attributed", source="Orphanet:98754/ntbt"}
xref: MEDGEN:1826079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98754 {source="MONDO:equivalentTo"}
xref: UMLS:C5680343 {source="MEDGEN:1826079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008300 {source="Orphanet:98754"} ! Prader-Willi syndrome
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr15 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 15 (Human)

[Term]
id: MONDO:0020299
name: obsolete spinocerebellar ataxia type 15/16
is_obsolete: true
replaced_by: MONDO:0011694

[Term]
id: MONDO:0020300
name: autosomal dominant nocturnal frontal lobe epilepsy
def: "A seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." [https://orcid.org/0000-0001-5208-3432, Orphanet:98784]
subset: gard_rare {source="GARD:11918", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98784"}
subset: orphanet_rare {source="Orphanet:98784"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADNFLE" EXACT ABBREVIATION [Orphanet:98784]
synonym: "ENFL" EXACT ABBREVIATION [DOID:0060681]
xref: DOID:0060681 {source="MONDO:equivalentTo"}
xref: GARD:11918 {source="MONDO:GARD"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:777188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C579932 {source="MONDO:equivalentTo"}
xref: Orphanet:98784 {source="DOID:0060681", source="MONDO:equivalentTo"}
xref: SCTID:698021005 {source="MONDO:equivalentTo"}
xref: UMLS:C3696898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777188"}
is_a: MONDO:0002612 {source="DOID:0060681", source="MESH:C579932"} ! frontal lobe epilepsy
is_a: MONDO:0017704 {source="Orphanet:98784"} ! familial partial epilepsy
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/adnfle-overview.html" xsd:anyURI

[Term]
id: MONDO:0020301
name: Prader-Willi syndrome due to paternal 15q11q13 deletion
subset: gard_rare {source="GARD:19576", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98793"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98793"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19576 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:98793/attributed", source="Orphanet:98793/ntbt", source="Orphanet:98793"}
xref: MEDGEN:1826129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98793 {source="MONDO:equivalentTo"}
xref: UMLS:C5681699 {source="MONDO:equivalentTo", source="MEDGEN:1826129", source="MONDO:MEDGEN"}
is_a: MONDO:0008300 {source="Orphanet:98793"} ! Prader-Willi syndrome
is_a: MONDO:0016913 {source="Orphanet:98793"} ! partial deletion of the long arm of chromosome 15
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0020302
name: Angelman syndrome due to maternal 15q11q13 deletion
subset: gard_rare {source="GARD:19577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98794"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98794"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Angelman syndrome due to maternal monosomy 15q11q13" EXACT [Orphanet:98794]
xref: GARD:19577 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:98794/attributed", source="Orphanet:98794/ntbt", source="Orphanet:98794"}
xref: MEDGEN:1797757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98794 {source="MONDO:equivalentTo"}
xref: UMLS:C5566334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1797757"}
is_a: MONDO:0007113 {source="Orphanet:98794"} ! Angelman syndrome
is_a: MONDO:0016913 {source="Orphanet:98794"} ! partial deletion of the long arm of chromosome 15
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0020303
name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
subset: gard_rare {source="GARD:19578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98795"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98795"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98795]
synonym: "UPD(15)pat" EXACT [Orphanet:98795]
xref: GARD:19578 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:98795", source="Orphanet:98795/attributed", source="Orphanet:98795/ntbt"}
xref: MEDGEN:1826078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98795 {source="MONDO:equivalentTo"}
xref: UMLS:C5680342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826078"}
is_a: MONDO:0007113 {source="Orphanet:98795"} ! Angelman syndrome
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr15 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 15 (Human)

[Term]
id: MONDO:0020304
name: isochromosomy Yp
def: "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." [Orphanet:98797]
subset: gard_rare {source="GARD:19579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98797"}
subset: ordo_malformation_syndrome {source="Orphanet:98797"}
subset: orphanet_rare {source="Orphanet:98797"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19579 {source="MONDO:GARD"}
xref: ICD10CM:Q98.6 {source="Orphanet:98797/attributed", source="Orphanet:98797/ntbt", source="Orphanet:98797"}
xref: MEDGEN:1640451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98797 {source="MONDO:equivalentTo"}
xref: SCTID:766708008 {source="MONDO:equivalentTo"}
xref: UMLS:C4707793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640451"}
is_a: MONDO:0019935 {source="Orphanet:98797"} ! isochromosome Y

[Term]
id: MONDO:0020305
name: isochromosomy Yq
def: "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." [Orphanet:98798]
subset: gard_rare {source="GARD:19580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98798"}
subset: ordo_malformation_syndrome {source="Orphanet:98798"}
subset: orphanet_rare {source="Orphanet:98798"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19580 {source="MONDO:GARD"}
xref: ICD10CM:Q98.6 {source="Orphanet:98798", source="Orphanet:98798/attributed", source="Orphanet:98798/ntbt"}
xref: MEDGEN:1665766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98798 {source="MONDO:equivalentTo"}
xref: UMLS:C4749291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1665766"}
is_a: MONDO:0019935 {source="Orphanet:98798"} ! isochromosome Y

[Term]
id: MONDO:0020306
name: obsolete absent tibia-polydactyly syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5501" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008572

[Term]
id: MONDO:0020307
name: benign childhood occipital epilepsy, Panayiotopoulos type
def: "A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases." [https://orcid.org/0000-0001-5208-3432, Orphanet:98815]
subset: gard_rare {source="GARD:19581", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98815"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset benign childhood occipital epilepsy" EXACT [Orphanet:98815]
synonym: "Panayiotopoulos syndrome" EXACT [Orphanet:98815]
xref: GARD:19581 {source="MONDO:GARD"}
xref: ICD10CM:G40.0 {source="Orphanet:98815", source="Orphanet:98815/attributed", source="Orphanet:98815/ntbt"}
xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:581520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98815 {source="MONDO:equivalentTo"}
xref: SCTID:230387008 {source="MONDO:equivalentTo"}
xref: UMLS:C0393676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581520"}
is_a: MONDO:0007558 {source="Orphanet:98815"} ! benign occipital epilepsy
is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/syndrome/panayiotopoulos-overview.html"} ! childhood-onset epilepsy syndrome
relationship: has_characteristic HP:0011463 {source="https://www.epilepsydiagnosis.org/syndrome/panayiotopoulos-overview.html"} ! Childhood onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/panayiotopoulos-overview.html" xsd:anyURI

[Term]
id: MONDO:0020308
name: benign childhood occipital epilepsy, Gastaut type
def: "A rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare." [https://orcid.org/0000-0001-5208-3432, Orphanet:98816]
subset: gard_rare {source="GARD:19582", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98816"}
subset: rare
synonym: "childhood occipital epilepsy (Gastaut type)" EXACT [https://www.epilepsydiagnosis.org/syndrome/late-childhood-occipital-overview.html]
synonym: "late-onset benign childhood occipital epilepsy" EXACT [Orphanet:98816]
xref: GARD:19582 {source="MONDO:GARD"}
xref: ICD10CM:G40.0 {source="Orphanet:98816/attributed", source="Orphanet:98816/ntbt", source="Orphanet:98816"}
xref: MEDGEN:581521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98816 {source="MONDO:equivalentTo"}
xref: UMLS:C0393677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581521"}
is_a: MONDO:0007558 {source="Orphanet:98816"} ! benign occipital epilepsy
is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/syndrome/late-childhood-occipital-overview.html"} ! childhood-onset epilepsy syndrome
relationship: has_characteristic HP:0011463 {source="https://www.epilepsydiagnosis.org/syndrome/late-childhood-occipital-overview.html"} ! Childhood onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/late-childhood-occipital-overview.html" xsd:anyURI

[Term]
id: MONDO:0020309
name: obsolete Landau-Kleffner syndrome
is_obsolete: true
replaced_by: MONDO:0009509

[Term]
id: MONDO:0020310
name: familial focal epilepsy with variable foci
def: "Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described." [Orphanet:98820]
subset: gard_rare {source="GARD:13295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98820"}
subset: orphanet_rare {source="Orphanet:98820"}
subset: otar {source="MONDO:OTAR"}
subset: prototype_pattern
subset: rare
synonym: "epilepsy, familial focal, with variable foci" EXACT [MONDO:0000215, MONDO:Lexical, OMIM:604364]
synonym: "familial focal epilepsy with variable foci" EXACT CLINGEN_LABEL []
synonym: "familial partial epilepsy with variable foci" EXACT [Orphanet:98820]
synonym: "FFEVF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604364, Orphanet:98820]
xref: DOID:0081420 {source="MONDO:equivalentTo"}
xref: GARD:13295 {source="MONDO:GARD"}
xref: MEDGEN:348951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565785 {source="MONDO:equivalentTo"}
xref: OMIMPS:604364 {source="MONDO:equivalentTo"}
xref: Orphanet:98820 {source="MONDO:equivalentTo", source="OMIM:604364"}
xref: SCTID:764522009 {source="MONDO:equivalentTo"}
xref: UMLS:C1858477 {source="MEDGEN:348951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017704 {source="Orphanet:98820"} ! familial partial epilepsy
is_a: MONDO:0100036 {source="https://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604364"} ! inherited
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/ffevf-overview.html" xsd:anyURI

[Term]
id: MONDO:0020311
name: chronic myelomonocytic leukemia
def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178]
subset: gard_rare {source="GARD:8225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98823"}
subset: orphanet_rare {source="Orphanet:98823"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic myelomonocytic leukaemia (CMML)" EXACT OMO:0003005 []
synonym: "chronic myelomonocytic leukemia" EXACT [NCIT:C3178]
synonym: "chronic myelomonocytic leukemia (CMML)" EXACT [NCIT:C3178]
synonym: "CMML" EXACT ABBREVIATION [NCIT:C3178, OMIM:607785, Orphanet:98823]
xref: DOID:0080188 {source="MONDO:equivalentTo"}
xref: EFO:1001779 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8225 {source="MONDO:GARD"}
xref: ICD10CM:C93.1 {source="Orphanet:98823", source="Orphanet:98823/e"}
xref: icd11.foundation:2073226578 {source="MONDO:equivalentTo", source="Orphanet:98823", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9945/3 {source="NCIT:C3178"}
xref: MedDRA:10009018 {source="Orphanet:98823", source="Orphanet:98823/e"}
xref: MEDGEN:44125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015477 {source="MONDO:equivalentTo", source="Orphanet:98823", source="Orphanet:98823/e"}
xref: NANDO:2200014 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3178 {source="DOID:0080188", source="MONDO:equivalentTo"}
xref: OMIM:607785 {source="MONDO:includedEntryInOMIM"}
xref: ONCOTREE:CMML {source="MONDO:equivalentTo"}
xref: Orphanet:98823 {source="MONDO:equivalentTo"}
xref: SCTID:127225006 {source="MONDO:equivalentTo"}
xref: UMLS:C0023480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44125"}
is_a: MONDO:0001014 {source="DOID:0080188"} ! chronic leukemia
is_a: MONDO:0006311 {source="NCIT:C3178", source="ONCOTREE:CMML"} ! myelodysplastic/myeloproliferative neoplasm
is_a: MONDO:0020077 {source="MESH:D015477", source="Orphanet:98823"} ! myelodysplastic/myeloproliferative disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0020312
name: obsolete atypical chronic myeloid leukemia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4487" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004653

[Term]
id: MONDO:0020313
name: obsolete unclassified myelodysplastic/myeloproliferative disease
subset: ordo_disorder {source="Orphanet:98825"}
synonym: "unclassified mixed myelodysplastic/myeloproliferatic syndrome" EXACT [Orphanet:98825]
xref: GARD:19584 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:855969668 {source="MONDO:obsoleteEquivalent", source="Orphanet:98825", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:98825 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0020077

[Term]
id: MONDO:0020314
name: obsolete refractory anemia
is_obsolete: true
replaced_by: MONDO:0005272

[Term]
id: MONDO:0020315
name: obsolete unclassified myelodysplastic syndrome
def: "OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." [Orphanet:98827]
subset: ordo_disorder {source="Orphanet:98827"}
xref: GARD:19586 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1684468291 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98827"}
xref: Orphanet:98827 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI
is_obsolete: true
consider: MONDO:0019453

[Term]
id: MONDO:0020316
name: acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
def: "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." [https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22]
subset: gard_rare {source="GARD:536", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98829"}
subset: orphanet_rare {source="Orphanet:98829"}
subset: rare
synonym: "acute myelomonocytic leukaemia" RELATED OMO:0003005 []
synonym: "acute myelomonocytic leukemia" RELATED [GARD:0000536]
synonym: "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" EXACT [Orphanet:98829]
synonym: "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)" RELATED [GARD:0000536]
synonym: "CBFB-MYH11" RELATED [GARD:0000536]
xref: GARD:536 {source="MONDO:GARD"}
xref: ICD10CM:C92.5 {source="Orphanet:98829/e", source="Orphanet:98829"}
xref: MEDGEN:1716406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98829 {source="MONDO:equivalentTo"}
xref: UMLS:C5395080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716406"}
is_a: MONDO:0018874 {source="Orphanet:98829"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22" xsd:anyURI {source="GARD:0000536"}

[Term]
id: MONDO:0020317
name: acute myeloid leukemia with 11q23 abnormalities
def: "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." [NCIT:P378]
subset: gard_rare {source="GARD:19587", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98831"}
subset: orphanet_rare {source="Orphanet:98831"}
subset: rare
synonym: "acute myeloid leukaemia with 11q23 (MLL) abnormalities" EXACT OMO:0003005 []
synonym: "acute myeloid leukaemia with MLL abnormalities" EXACT OMO:0003005 []
synonym: "acute myeloid Leukaemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" EXACT OMO:0003005 []
synonym: "acute myeloid leukaemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT OMO:0003005 []
synonym: "acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia with 11q23 (MLL) abnormalities" EXACT [NCIT:C82403]
synonym: "acute myeloid leukemia with MLL abnormalities" EXACT [NCIT:C82403]
synonym: "acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" EXACT [NCIT:C82403]
synonym: "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT [NCIT:C82403]
synonym: "acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403]
synonym: "AML with 11q23 abnormalities" EXACT [Orphanet:98831]
synonym: "AML with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403]
xref: GARD:19587 {source="MONDO:GARD"}
xref: ICD10CM:C92.6 {source="Orphanet:98831", source="Orphanet:98831/e"}
xref: ICDO:9897/3 {source="NCIT:C82403"}
xref: MEDGEN:266234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C82403 {source="MONDO:equivalentTo"}
xref: Orphanet:98831 {source="MONDO:equivalentTo"}
xref: SCTID:444911000 {source="MONDO:equivalentTo"}
xref: UMLS:C1292775 {source="MONDO:equivalentTo", source="MEDGEN:266234", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="NCIT:C82403", source="Orphanet:98831"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020319
name: obsolete acute myeloblastic leukemia without maturation
is_obsolete: true
replaced_by: MONDO:0005224

[Term]
id: MONDO:0020320
name: acute myeloblastic leukemia with maturation
def: "An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="GARD:527", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98834"}
subset: orphanet_rare {source="Orphanet:98834"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute M2 myeloid leukaemia" EXACT OMO:0003005 []
synonym: "acute M2 myeloid leukemia" EXACT [NCIT:C3250]
synonym: "acute myeloblastic leukaemia M2" EXACT OMO:0003005 []
synonym: "acute myeloblastic leukaemia type 2" RELATED OMO:0003005 []
synonym: "acute myeloblastic leukemia M2" EXACT [Orphanet:98834]
synonym: "acute myeloblastic leukemia type 2" RELATED [GARD:0000527]
synonym: "acute myelocytic leukaemia with maturation" EXACT OMO:0003005 []
synonym: "acute myelocytic leukemia with maturation" EXACT [NCIT:C3250]
synonym: "acute myelogenous leukaemia with maturation" EXACT OMO:0003005 []
synonym: "acute myelogenous leukemia with maturation" EXACT [NCIT:C3250]
synonym: "acute myeloid leukaemia (AML-M2)" EXACT OMO:0003005 []
synonym: "acute myeloid leukaemia with maturation" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia (AML-M2)" EXACT [NCIT:C3250]
synonym: "acute myeloid leukemia with maturation" EXACT [NCIT:C3250]
synonym: "AM" RELATED ABBREVIATION [ONCOTREE:AM]
synonym: "AML M2" EXACT [Orphanet:98834]
synonym: "AML with maturation" EXACT [NCIT:C3250]
synonym: "FAB M2" EXACT [NCIT:C3250]
synonym: "LAM M2" RELATED [GARD:0000527]
synonym: "M2 acute granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "M2 acute granulocytic leukemia" EXACT [NCIT:C3250]
synonym: "M2 acute myeloblastic leukaemia" EXACT OMO:0003005 []
synonym: "M2 acute myeloblastic leukaemia with maturation" EXACT OMO:0003005 []
synonym: "M2 acute myeloblastic leukemia" EXACT [NCIT:C3250]
synonym: "M2 acute myeloblastic leukemia with maturation" EXACT [NCIT:C3250]
synonym: "M2 acute myelocytic leukaemia with maturation" EXACT OMO:0003005 []
synonym: "M2 acute myelocytic leukemia with maturation" EXACT [NCIT:C3250]
synonym: "M2 acute myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "M2 acute myelogenous leukaemia with maturation" EXACT OMO:0003005 []
synonym: "M2 acute myelogenous leukemia" EXACT [NCIT:C3250]
synonym: "M2 acute myelogenous leukemia with maturation" EXACT [NCIT:C3250]
synonym: "M2 acute myeloid leukaemia" EXACT OMO:0003005 []
synonym: "M2 acute myeloid leukaemia with maturation" EXACT OMO:0003005 []
synonym: "M2 acute myeloid leukemia" EXACT [NCIT:C3250]
synonym: "M2 acute myeloid leukemia with maturation" EXACT [NCIT:C3250]
xref: DOID:0081087 {source="MONDO:equivalentTo"}
xref: EFO:0003028 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:527 {source="MONDO:GARD"}
xref: ICD10CM:C92.0 {source="Orphanet:98834", source="Orphanet:98834/ntbt"}
xref: ICDO:9874/3 {source="NCIT:C3250"}
xref: MEDGEN:361829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200006 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3250 {source="MONDO:equivalentTo", source="EFO:0003028"}
xref: ONCOTREE:AM {source="MONDO:equivalentTo"}
xref: Orphanet:98834 {source="MONDO:equivalentTo"}
xref: SCTID:103691009 {source="EFO:0003028"}
xref: UMLS:C1879321 {source="MONDO:equivalentTo", source="MEDGEN:361829", source="MONDO:MEDGEN"}
is_a: MONDO:0015667 {source="NCIT:C3250"} ! acute myeloid leukemia by FAB classification
relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003028", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation" xsd:anyURI {source="GARD:0000527"}

[Term]
id: MONDO:0020321
name: acute undifferentiated leukemia
def: "A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage." [NCIT:C9298]
subset: gard_rare {source="GARD:16863", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98835"}
subset: orphanet_rare {source="Orphanet:98835"}
subset: rare
synonym: "acute leukaemia not otherwise specified" RELATED OMO:0003005 []
synonym: "acute leukemia not otherwise specified" RELATED EXCLUDE [NCIT:C9298]
synonym: "acute leukemia, NOS" RELATED EXCLUDE [NCIT:C9298]
synonym: "acute myeloid leukemia, minimal differentiation, FAB M0" EXACT [Orphanet:98835]
synonym: "acute undifferentiated leukemia" EXACT [NCIT:C9298]
synonym: "AUL" RELATED ABBREVIATION [ONCOTREE:AUL]
synonym: "leukaemia stem cell" EXACT OMO:0003005 []
synonym: "leukemia stem cell" EXACT [NCIT:C9298]
synonym: "stem cell acute leukaemia" EXACT OMO:0003005 []
synonym: "stem cell acute leukemia" EXACT [NCIT:C9298]
synonym: "stem cell leukaemia" EXACT OMO:0003005 []
synonym: "stem cell leukemia" EXACT [NCIT:C9298]
synonym: "undifferentiated acute leukaemia" EXACT OMO:0003005 []
synonym: "undifferentiated acute leukemia" EXACT [NCIT:C9298]
xref: GARD:16863 {source="MONDO:GARD"}
xref: ICD10CM:C95.0 {source="Orphanet:98835", source="Orphanet:98835/ntbt"}
xref: MedDRA:10045516 {source="Orphanet:98835", source="Orphanet:98835/e"}
xref: MEDGEN:79081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200017 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9298 {source="MONDO:equivalentTo"}
xref: ONCOTREE:AUL {source="MONDO:equivalentTo"}
xref: Orphanet:98835 {source="MONDO:equivalentTo"}
xref: SCTID:359631009 {source="MONDO:equivalentTo"}
xref: UMLS:C0280141 {source="MEDGEN:79081", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019460 {source="MONDO:Redundant", source="NCIT:C9298", source="Orphanet:98835"} ! acute leukemia of ambiguous lineage
relationship: excluded_subClassOf MONDO:0011118 {source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020322
name: acute biphenotypic leukemia
def: "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B- and T-cell mixed leukaemia" EXACT OMO:0003005 []
synonym: "B- and T-cell mixed leukemia" EXACT [MONDO:0006667]
xref: DOID:9953 {source="EFO:1000828", source="MONDO:equivalentTo"}
xref: EFO:1000828 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C95.0 {source="DOID:9953", source="Orphanet:98837", source="Orphanet:98837/ntbt"}
xref: ICD9:207.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9805/3 {source="NCIT:C4673"}
xref: MedDRA:10067399 {source="Orphanet:98837", source="Orphanet:98837/e"}
xref: MEDGEN:7318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015456 {source="DOID:9953", source="EFO:1000828", source="MONDO:equivalentTo", source="Orphanet:98837", source="Orphanet:98837/e"}
xref: NCIT:C4673 {source="DOID:9953", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:98837 {source="MONDO:equivalentObsolete"}
xref: SCTID:128818009 {source="DOID:9953"}
xref: SCTID:278453007 {source="DOID:9953", source="MONDO:equivalentTo"}
xref: UMLS:C0023464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7318"}
is_a: MONDO:0004967 {source="DOID:9953", source="EFO:1000828"} ! acute lymphoblastic leukemia
is_a: MONDO:0020743 {source="NCIT:C4673"} ! mixed phenotype acute leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020323
name: primary mediastinal large B-cell lymphoma
def: "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)" [NCIT:C9280]
subset: gard_rare {source="GARD:19589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98838"}
subset: orphanet_rare {source="Orphanet:98838"}
subset: rare
synonym: "B-cell diffuse large cell lymphoma of mediastinum" EXACT [NCIT:C9280]
synonym: "B-cell diffuse large cell lymphoma of the mediastinum" EXACT [NCIT:C9280]
synonym: "large cell lymphoma of the mediastinum" EXACT [DOID:0080210, Orphanet:98838]
synonym: "Med-DLBCL" EXACT [Orphanet:98838]
synonym: "mediastinal (thymic) large B-cell lymphoma" EXACT [NCIT:C9280]
synonym: "mediastinal B-cell diffuse large cell lymphoma" EXACT [NCIT:C9280]
synonym: "mediastinal diffuse large cell lymphoma with sclerosis" EXACT [NCIT:C9280]
synonym: "mediastinal diffuse large-cell lymphoma with sclerosis" EXACT [DOID:0080210, Orphanet:98838]
synonym: "mediastinal large B-cell lymphoma" EXACT [NCIT:C9280]
synonym: "PMBL" EXACT ABBREVIATION [NCIT:C9280, ONCOTREE:PMBL]
synonym: "PMLCL" EXACT ABBREVIATION [NCIT:C9280]
synonym: "primary mediastinal (thymic) large B-cell lymphoma" RELATED [ONCOTREE:PMBL]
synonym: "primary mediastinal B-cell lymphoma" RELATED [DOID:0080210]
synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT [DOID:0080210, Orphanet:98838]
synonym: "primary mediastinal large B-cell lymphoma" EXACT [NCIT:C9280]
xref: DOID:0080210 {source="MONDO:equivalentTo"}
xref: GARD:19589 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:98838/ntbt", source="Orphanet:98838"}
xref: ICD10CM:C85.2 {source="DOID:0080210"}
xref: icd11.foundation:950282079 {source="MONDO:equivalentTo", source="Orphanet:98838"}
xref: ICDO:9679/3 {source="NCIT:C9280"}
xref: MedDRA:10036710 {source="Orphanet:98838/e", source="Orphanet:98838"}
xref: MEDGEN:714984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9280 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PMBL {source="MONDO:equivalentTo"}
xref: Orphanet:98838 {source="DOID:0080210", source="MONDO:equivalentTo"}
xref: SCTID:444910004 {source="MONDO:equivalentTo"}
xref: UMLS:C1292754 {source="MEDGEN:714984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000951 {source="NCIT:C9280"} ! thymus lymphoma
is_a: MONDO:0018905 {source="DOID:0080210", source="NCIT:C9280", source="Orphanet:98838"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0020324
name: intravascular large B-cell lymphoma
def: "Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis." [Orphanet:98839]
subset: gard_rare {source="GARD:19590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98839"}
subset: orphanet_rare {source="Orphanet:98839"}
subset: rare
synonym: "angioendotheliomatosis proliferans systemisata" EXACT [Orphanet:98839]
synonym: "angiotropic large cell lymphoma" EXACT [NCIT:C4342, Orphanet:98839]
synonym: "angiotropic lymphoma" EXACT [NCIT:C4342]
synonym: "intravascular B-cell lymphoma" EXACT [NCIT:C4342]
synonym: "intravascular large B-cell lymphoma" EXACT [NCIT:C4342]
synonym: "intravascular lymphomatosis" EXACT [Orphanet:98839]
synonym: "IVBCL" RELATED ABBREVIATION [ONCOTREE:IVBCL]
synonym: "malignant angioendotheliomatosis" EXACT [NCIT:C4342, Orphanet:98839]
synonym: "Tappeiner-Pfleger disease" EXACT [Orphanet:98839]
xref: DOID:0081311 {source="MONDO:equivalentTo"}
xref: GARD:19590 {source="MONDO:GARD"}
xref: ICD10CM:C83.3 {source="Orphanet:98839", source="Orphanet:98839/ntbt"}
xref: icd11.foundation:952730197 {source="MONDO:equivalentTo", source="Orphanet:98839"}
xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9712/3 {source="NCIT:C4342"}
xref: MedDRA:10069643 {source="Orphanet:98839/e", source="Orphanet:98839"}
xref: MEDGEN:90821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4342 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:IVBCL {source="MONDO:equivalentTo"}
xref: Orphanet:98839 {source="MONDO:equivalentTo"}
xref: SCTID:255102004 {source="MONDO:equivalentTo"}
xref: UMLS:C0334660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90821"}
is_a: MONDO:0018905 {source="NCIT:C4342", source="Orphanet:98839"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0020325
name: anaplastic large cell lymphoma
def: "Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL." [Orphanet:98841]
subset: gard_rare {source="GARD:3112", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98841"}
subset: orphanet_rare {source="Orphanet:98841"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALCL" EXACT ABBREVIATION [NCIT:C3720, Orphanet:98841]
synonym: "anaplastic large cell lymphoma" EXACT [MONDO:0005228, NCIT:C3720]
synonym: "CD30 Positive anaplastic large cell lymphoma" EXACT [NCIT:C3720]
synonym: "CD30 positive anaplastic large cell lymphoma" EXACT [Orphanet:98841]
synonym: "Ki-1 lymphoma" EXACT [NCIT:C3720]
synonym: "Ki-1 positive anaplastic large cell lymphoma" EXACT [Orphanet:98841]
synonym: "Ki-1+ ALCL" EXACT [NCIT:C3720]
synonym: "Ki-1+ anaplastic large cell lymphoma" EXACT [NCIT:C3720]
synonym: "primary systemic ALCL" EXACT [Orphanet:98841]
synonym: "sACL" EXACT [Orphanet:98841]
xref: DOID:0050744 {source="MONDO:equivalentTo", source="EFO:0003032"}
xref: EFO:0003032 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:3112 {source="MONDO:GARD"}
xref: HGNC:427 {source="GARD:0003112"}
xref: ICD10CM:C84.6 {source="Orphanet:98841/btnt", source="Orphanet:98841"}
xref: ICD10CM:C84.7 {source="Orphanet:98841/btnt", source="Orphanet:98841"}
xref: ICD9:200.6 {source="EFO:0003032"}
xref: ICD9:200.60 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICDO:9714/3 {source="NCIT:C3720"}
xref: MEDGEN:61533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017728 {source="Orphanet:98841", source="MONDO:equivalentTo", source="Orphanet:98841/e"}
xref: NANDO:2200021 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3720 {source="MONDO:equivalentTo", source="EFO:0003032"}
xref: ONCOTREE:ALCL {source="MONDO:equivalentTo"}
xref: Orphanet:98841 {source="MONDO:equivalentTo"}
xref: SCTID:277637000 {source="MONDO:equivalentTo"}
xref: UMLS:C0206180 {source="MEDGEN:61533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005169 {source="EFO:0003032", source="NCIT:C3720/inferred"} ! neoplasm of mature T-cells or NK-cells
is_a: MONDO:0015760 {source="MESH:D017728", source="NCIT:C3720/inferred", source="Orphanet:98841"} ! T-cell non-Hodgkin lymphoma
relationship: has_characteristic PATO:0002092 ! anaplastic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma" xsd:anyURI {source="GARD:0003112"}

[Term]
id: MONDO:0020326
name: lymphomatoid papulosis
def: "Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features." [Orphanet:98842]
subset: gard_rare {source="GARD:6944", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98842"}
subset: orphanet_rare {source="Orphanet:98842"}
subset: rare
synonym: "LYP" RELATED ABBREVIATION [ONCOTREE:LYP]
synonym: "LyP" EXACT [Orphanet:98842]
xref: GARD:6944 {source="MONDO:GARD"}
xref: ICD10CM:C86.6 {source="Orphanet:98842", source="Orphanet:98842/e"}
xref: icd11.foundation:1791207220 {source="Orphanet:98842", source="MONDO:equivalentTo"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9718/1 {source="NCIT:C3721"}
xref: MedDRA:10056670 {source="Orphanet:98842", source="Orphanet:98842/e"}
xref: MEDGEN:61534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017731 {source="Orphanet:98842", source="MONDO:equivalentTo", source="Orphanet:98842/e"}
xref: NCIT:C3721 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:LYP {source="MONDO:equivalentTo"}
xref: Orphanet:98842 {source="MONDO:equivalentTo"}
xref: SCTID:31047003 {source="MONDO:equivalentTo"}
xref: UMLS:C0206182 {source="MEDGEN:61534", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018897 {source="Orphanet:98842"} ! primary cutaneous CD30+ T-cell lymphoproliferative disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis" xsd:anyURI {source="GARD:0006944"}

[Term]
id: MONDO:0020327
name: obsolete classic Hodgkin lymphoma, nodular sclerosis type
subset: nord_rare {source="MONDO:NORD"}
xref: GARD:19591 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7278" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004665

[Term]
id: MONDO:0020328
name: obsolete classic Hodgkin lymphoma, mixed cellularity type
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3000" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004633

[Term]
id: MONDO:0020329
name: obsolete classic Hodgkin lymphoma, lymphocyte-rich type
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3001" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004604

[Term]
id: MONDO:0020330
name: obsolete classic Hodgkin lymphoma, lymphocyte-depleted type
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2981" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0004620

[Term]
id: MONDO:0020331
name: indolent systemic mastocytosis
def: "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues." [Orphanet:98848]
subset: gard_rare {source="GARD:19595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98848"}
subset: orphanet_rare {source="Orphanet:98848"}
subset: rare
synonym: "indolent systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4660]
synonym: "ism" EXACT [DOID:4660, NCIT:C9286, ONCOTREE:ISM]
xref: DOID:4660 {source="MONDO:equivalentTo"}
xref: GARD:19595 {source="MONDO:GARD"}
xref: ICD10CM:D47.0 {source="Orphanet:98848", source="Orphanet:98848/ntbt", source="DOID:4660"}
xref: ICDO:9741/1 {source="NCIT:C9286"}
xref: MedDRA:10056452 {source="Orphanet:98848", source="Orphanet:98848/e"}
xref: MEDGEN:82897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034721 {source="DOID:4660"}
xref: NCIT:C9286 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4660"}
xref: ONCOTREE:ISM {source="MONDO:equivalentTo"}
xref: Orphanet:98848 {source="MONDO:equivalentTo"}
xref: SCTID:397356009 {source="DOID:4660"}
xref: SCTID:70910003 {source="MONDO:equivalentTo", source="DOID:4660"}
xref: UMLS:C0272203 {source="MEDGEN:82897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002724 {source="DOID:4660", source="MONDO:Redundant", source="NCIT:C9286/inferred"} ! mast cell neoplasm
is_a: MONDO:0016586 {source="DOID:4660", source="NCIT:C9286/inferred", source="ONCOTREE:ISM", source="Orphanet:98848"} ! systemic mastocytosis

[Term]
id: MONDO:0020332
name: systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
def: "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)." [Orphanet:98849]
subset: gard_rare {source="GARD:19596", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98849"}
subset: orphanet_rare {source="Orphanet:98849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SM-AHN" EXACT ABBREVIATION [NCIT:C9284]
synonym: "SM-AHNMD" EXACT ABBREVIATION [NCIT:C9284]
synonym: "SMAHN" EXACT ABBREVIATION [ONCOTREE:SMAHN]
synonym: "systemic mastocytosis with an associated haematological neoplasm" EXACT OMO:0003005 []
synonym: "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" EXACT OMO:0003005 []
synonym: "systemic mastocytosis with an associated hematological neoplasm" EXACT [NCIT:C9284]
synonym: "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" EXACT [NCIT:C9284]
synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT OMO:0003005 []
synonym: "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease" EXACT OMO:0003005 []
synonym: "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" EXACT [DOID:4797]
synonym: "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" EXACT [NCIT:C9284]
synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" EXACT [DOID:4797]
synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)" EXACT [DOID:4797]
synonym: "systemic mastocytosis with associated hematologic neoplasm" EXACT [Orphanet:98849]
xref: DOID:4797 {source="MONDO:equivalentTo"}
xref: EFO:1000559 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19596 {source="MONDO:GARD"}
xref: ICD10CM:C96.2 {source="Orphanet:98849/ntbt", source="Orphanet:98849"}
xref: ICDO:9741/3 {source="NCIT:C9284"}
xref: MEDGEN:226985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9284 {source="DOID:4797", source="MONDO:equivalentTo", source="EFO:1000559"}
xref: ONCOTREE:SMAHN {source="MONDO:equivalentTo"}
xref: Orphanet:98849 {source="MONDO:equivalentTo"}
xref: SCTID:397015000 {source="DOID:4797", source="MONDO:equivalentTo"}
xref: SCTID:397357000 {source="DOID:4797"}
xref: UMLS:C1301365 {source="MEDGEN:226985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="EFO:1000559", source="EFO:1000559/inferred"} ! hematologic disorder
is_a: MONDO:0016586 {source="Orphanet:98849"} ! systemic mastocytosis

[Term]
id: MONDO:0020333
name: aggressive systemic mastocytosis
def: "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues." [Orphanet:98850]
subset: gard_rare {source="GARD:19597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98850"}
subset: orphanet_rare {source="Orphanet:98850"}
subset: rare
synonym: "aggressive systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4798]
synonym: "ASM" EXACT ABBREVIATION [DOID:4798, NCIT:C9285, ONCOTREE:ASM]
synonym: "lymphadenopathic mastocytosis with eosinophilia" EXACT [DOID:4798]
xref: DOID:4798 {source="MONDO:equivalentTo"}
xref: GARD:19597 {source="MONDO:GARD"}
xref: ICD10CM:C96.2 {source="Orphanet:98850", source="DOID:4798", source="Orphanet:98850/ntbt"}
xref: ICDO:9741/3 {source="NCIT:C9285"}
xref: MedDRA:10056453 {source="Orphanet:98850", source="Orphanet:98850/e"}
xref: MEDGEN:206813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D034721 {source="DOID:4798"}
xref: NCIT:C9285 {source="DOID:4798", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:ASM {source="MONDO:equivalentTo"}
xref: Orphanet:98850 {source="MONDO:equivalentTo"}
xref: SCTID:397008008 {source="DOID:4798"}
xref: SCTID:397358005 {source="DOID:4798"}
xref: SCTID:716655008 {source="MONDO:equivalentTo"}
xref: UMLS:C1112486 {source="MEDGEN:206813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016586 {source="DOID:4798", source="NCIT:C9285/inferred", source="ONCOTREE:ASM", source="Orphanet:98850"} ! systemic mastocytosis

[Term]
id: MONDO:0020334
name: mast cell leukemia
def: "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells." [Orphanet:98851]
subset: disease_grouping
subset: gard_rare {source="GARD:19598", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98851"}
subset: orphanet_rare {source="Orphanet:98851"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aleukemic mast cell leukaemia" EXACT OMO:0003005 []
synonym: "aleukemic mast cell leukemia" EXACT [MONDO:0015561]
synonym: "Mast cell leukaemia" EXACT OMO:0003005 []
synonym: "Mast cell leukemia" EXACT [NCIT:C3169]
synonym: "mast-cell leukaemia" EXACT OMO:0003005 []
synonym: "mast-cell leukemia" EXACT [MONDO:0005840]
synonym: "SMMCL" RELATED ABBREVIATION [ONCOTREE:SMMCL]
xref: DOID:9254 {source="EFO:0007359", source="MONDO:equivalentTo"}
xref: EFO:0007359 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19598 {source="MONDO:GARD"}
xref: ICD10CM:C94.3 {source="Orphanet:98851", source="Orphanet:158799/ntbt", source="Orphanet:158799", source="Orphanet:98851/e", source="DOID:9254"}
xref: ICD10CM:C94.30 {source="DOID:9254"}
xref: icd11.foundation:1359806843 {source="Orphanet:98851", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICDO:9742/3 {source="NCIT:C3169"}
xref: MedDRA:10056450 {source="Orphanet:98851", source="Orphanet:98851/e"}
xref: MEDGEN:44123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007946 {source="Orphanet:98851", source="EFO:0007359", source="MONDO:equivalentTo", source="Orphanet:98851/e", source="DOID:9254"}
xref: NCIT:C3169 {source="MONDO:equivalentTo", source="DOID:9254"}
xref: ONCOTREE:SMMCL {source="MONDO:equivalentTo"}
xref: Orphanet:158799 {source="MONDO:equivalentObsolete"}
xref: Orphanet:98851 {source="MONDO:equivalentTo"}
xref: SCTID:110002002 {source="MONDO:equivalentTo", source="DOID:9254"}
xref: SCTID:128924002 {source="DOID:9254"}
xref: SCTID:188755006 {source="DOID:9254"}
xref: SCTID:70798001 {source="DOID:9254"}
xref: UMLS:C0023461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44123"}
is_a: MONDO:0005059 {source="DOID:9254", source="EFO:0007359", source="MESH:D007946", source="MESH:D007946/inferred", source="NCIT:C3169"} ! leukemia
is_a: MONDO:0016586 {source="NCIT:C3169/inferred", source="ONCOTREE:SMMCL", source="Orphanet:98851"} ! systemic mastocytosis

[Term]
id: MONDO:0020335
name: obsolete desquamative interstitial pneumonia
is_obsolete: true
replaced_by: MONDO:0009887

[Term]
id: MONDO:0020336
name: autosomal dominant Emery-Dreifuss muscular dystrophy
def: "Autosomal dominant form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="GARD:16865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98853"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98853"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL []
synonym: "EDMD2" NARROW ABBREVIATION [Orphanet:98853]
synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: GARD:16865 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:98853", source="Orphanet:98853/attributed", source="Orphanet:98853/ntbt"}
xref: Orphanet:98853 {source="MONDO:equivalentTo"}
is_a: MONDO:0016830 {source="MONDO:Redundant", source="Orphanet:98853"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
intersection_of: MONDO:0016830 ! Emery-Dreifuss muscular dystrophy
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0020337
name: congenital dyserythropoietic anemia type 1
def: "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." [Orphanet:98869]
subset: gard_rare {source="GARD:2000", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98869"}
subset: orphanet_rare {source="Orphanet:98869"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anemia, dyserythropoietic, congenital type 1" RELATED [GARD:0002000]
synonym: "CDA I" EXACT [Orphanet:98869]
synonym: "CDA type 1" EXACT [Orphanet:98869]
synonym: "CDA type I" EXACT [Orphanet:98869]
synonym: "congenital dyserythropoietic anemia type 1" EXACT [Orphanet:98869]
synonym: "dyserythropoietic anemia, congenital type 1" RELATED [GARD:0002000]
synonym: "type I congenital dyserythropoietic anaemia" RELATED OMO:0003005 []
synonym: "type I congenital dyserythropoietic anemia" RELATED [GARD:0002000]
xref: DOID:0111396 {source="MONDO:equivalentTo"}
xref: GARD:2000 {source="MONDO:GARD"}
xref: ICD10CM:D64.4 {source="Orphanet:98869", source="Orphanet:98869/attributed", source="Orphanet:98869/ntbt"}
xref: MEDGEN:82891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200886 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:98869 {source="MONDO:equivalentTo"}
xref: SCTID:59548005 {source="MONDO:equivalentTo"}
xref: UMLS:C0271933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82891"}
is_a: MONDO:0019403 {source="Orphanet:98869"} ! congenital dyserythropoietic anemia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020338
name: adult pure red cell aplasia
def: "Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms." [Orphanet:98872]
subset: gard_rare {source="GARD:10898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98872"}
subset: orphanet_rare {source="Orphanet:98872"}
subset: rare
synonym: "acquired PRCA" RELATED [GARD:0010898]
synonym: "acquired pure red cell aplasia" RELATED [GARD:0010898]
synonym: "adult pure red-cell aplasia" EXACT [MONDO:design_pattern]
synonym: "idiopathic pure red cell aplasia" RELATED [GARD:0010898]
synonym: "pure red-cell aplasia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
xref: GARD:10898 {source="MONDO:GARD"}
xref: ICD10CM:D60.0 {source="Orphanet:98872", source="Orphanet:98872/ntbt"}
xref: icd11.foundation:45753120 {source="Orphanet:98872", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1647585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200889 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200613 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C70548 {source="MONDO:equivalentTo"}
xref: Orphanet:98872 {source="MONDO:equivalentTo"}
xref: SCTID:765748009 {source="MONDO:equivalentTo"}
xref: UMLS:C4707560 {source="MEDGEN:1647585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020113 {source="Orphanet:98872"} ! primary acquired red cell aplasia
intersection_of: MONDO:0001705 ! pure red-cell aplasia
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0020339
name: obsolete X-linked complex spastic paraplegia
subset: ordo_group_of_disorders {source="Orphanet:98888"}
synonym: "Complex X-linked HSP" EXACT [Orphanet:98888]
synonym: "Complex X-linked SPG" EXACT [Orphanet:98888]
synonym: "complicated X-linked HSP" EXACT [Orphanet:98888]
synonym: "complicated X-linked SPG" EXACT [Orphanet:98888]
synonym: "X-linked complicated spastic paraplegia" EXACT [Orphanet:98888]
xref: GARD:19599 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G11.4 {source="Orphanet:98888/attributed", source="Orphanet:98888/ntbt", source="Orphanet:98888"}
xref: Orphanet:98888 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020340
name: bilateral perisylvian polymicrogyria
subset: gard_rare {source="GARD:6011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98889"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080924 {source="MONDO:equivalentTo"}
xref: GARD:6011 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:98889", source="Orphanet:98889/attributed", source="Orphanet:98889/ntbt"}
xref: MEDGEN:337000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98889 {source="MONDO:equivalentTo"}
xref: UMLS:C1845668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337000"}
is_a: MONDO:0017091 {source="Orphanet:98889"} ! bilateral polymicrogyria

[Term]
id: MONDO:0020341
name: periventricular nodular heterotopia
def: "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." [Orphanet:98892]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12724", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98892"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "periventricular heterotopia" EXACT [DOID:0050454]
synonym: "periventricular nodular heterotopia" EXACT CLINGEN_LABEL []
xref: DOID:0050454 {source="MONDO:equivalentTo"}
xref: GARD:12724 {source="MONDO:GARD"}
xref: ICD10CM:Q04.8 {source="Orphanet:98892/attributed", source="Orphanet:98892/ntbt", source="Orphanet:98892"}
xref: MedDRA:10066854 {source="Orphanet:98892/e", source="Orphanet:98892"}
xref: MEDGEN:358387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054091 {source="DOID:0050454", source="Orphanet:98892/e", source="MONDO:equivalentTo", source="Orphanet:98892"}
xref: NANDO:1201079 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:300049 {source="MONDO:equivalentTo"}
xref: Orphanet:98892 {source="DOID:0050454", source="MONDO:equivalentTo"}
xref: SCTID:448227009 {source="DOID:0050454"}
xref: UMLS:C1868720 {source="MEDGEN:358387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002320 {source="DOID:0050454", source="MONDO:indirect"} ! congenital nervous system disorder
is_a: MONDO:0016292 {source="Orphanet:98892"} ! nodular neuronal heterotopia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300049"} ! inherited

[Term]
id: MONDO:0020342
name: obsolete congenital myopathy with excess of thin filaments
xref: GARD:16869 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6036" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008070

[Term]
id: MONDO:0020343
name: obsolete alpha-crystallinopathy
subset: ordo_group_of_disorders {source="Orphanet:98910"}
subset: otar {source="MONDO:OTAR"}
synonym: "CRYAB-related myofobrillar myopathy" EXACT [Orphanet:98910]
xref: GARD:19600 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G71.8 {source="Orphanet:98910/attributed", source="Orphanet:98910/ntbt", source="Orphanet:98910"}
xref: Orphanet:98910 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020344
name: postsynaptic congenital myasthenic syndrome
subset: gard_rare {source="GARD:15022", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:98913"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98913"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "postsynaptic congenital myasthenic syndromes" RELATED [Orphanet:98913]
xref: GARD:15022 {source="MONDO:GARD"}
xref: ICD10CM:G70.2 {source="Orphanet:98913", source="Orphanet:98913/attributed", source="Orphanet:98913/ntbt"}
xref: MEDGEN:199758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98913 {source="MONDO:equivalentTo"}
xref: UMLS:C0751883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199758"}
is_a: MONDO:0018940 {source="MONDO:Redundant", source="Orphanet:98913"} ! congenital myasthenic syndrome
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: disease_has_basis_in_dysfunction_of GO:0098794 ! postsynapse
relationship: disease_has_basis_in_dysfunction_of GO:0098975 ! postsynapse of neuromuscular junction
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020345
name: obsolete presynaptic congenital myasthenic syndrome
subset: ordo_subtype_of_a_disorder {source="Orphanet:98914"}
subset: otar {source="MONDO:OTAR"}
synonym: "presynaptic congenital myasthenic syndromes" RELATED [Orphanet:98914]
xref: GARD:15023 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G70.2 {source="Orphanet:98914", source="Orphanet:98914/attributed", source="Orphanet:98914/ntbt"}
xref: Orphanet:98914 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020346
name: obsolete synaptic congenital myasthenic syndrome
subset: ordo_subtype_of_a_disorder {source="Orphanet:98915"}
subset: otar {source="MONDO:OTAR"}
synonym: "synaptic congenital myasthenic syndromes" RELATED [Orphanet:98915]
xref: GARD:16872 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:G70.2 {source="Orphanet:98915/attributed", source="Orphanet:98915/ntbt", source="Orphanet:98915"}
xref: Orphanet:98915 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020347
name: acute inflammatory demyelinating polyradiculoneuropathy
def: "An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS)." [Orphanet:98916]
comment: Editor note: check this
subset: gard_rare {source="GARD:16873", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98916"}
subset: orphanet_rare {source="Orphanet:98916"}
subset: rare
synonym: "acute idiopathic demyelinating polyneuropathy" EXACT [Orphanet:98916]
synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT [NCIT:C116926]
synonym: "acute inflammatory polyneuropathy" EXACT [Orphanet:98916]
synonym: "AIDP" EXACT ABBREVIATION [Orphanet:98916]
synonym: "GBS, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916]
synonym: "Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916]
synonym: "Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916]
xref: GARD:16873 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:98916", source="Orphanet:98916/ntbt"}
xref: icd11.foundation:1196874419 {source="MONDO:equivalentTo", source="Orphanet:98916", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1648220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116926 {source="MONDO:equivalentTo"}
xref: Orphanet:98916 {source="MONDO:equivalentTo"}
xref: UMLS:C4551910 {source="MEDGEN:1648220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016218 {source="NCIT:C116926", source="Orphanet:98916"} ! Guillain-Barre syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0007691 {source="NCIT:C116926", source="https://orcid.org/0000-0001-5208-3432"} ! Guillain-Barre syndrome, familial
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3467#issuecomment-894502830" xsd:anyURI

[Term]
id: MONDO:0020348
name: acute motor and sensory axonal neuropathy
def: "Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS)." [Orphanet:98917]
subset: gard_rare {source="GARD:19601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98917"}
subset: orphanet_rare {source="Orphanet:98917"}
subset: rare
synonym: "acute motor-sensory axonal GBS" EXACT [Orphanet:98917]
synonym: "acute motor-sensory axonal Guillain-Barre syndrome" EXACT [Orphanet:98917]
synonym: "acute motor-sensory axonal Guillain-Barré syndrome" EXACT [Orphanet:98917]
synonym: "acute motor-sensory axonal neuropathy" EXACT [NCIT:C116927]
synonym: "AMSAN" EXACT ABBREVIATION [Orphanet:98917]
xref: GARD:19601 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:98917/ntbt", source="Orphanet:98917"}
xref: MEDGEN:859705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116927 {source="MONDO:equivalentTo"}
xref: Orphanet:98917 {source="MONDO:equivalentTo"}
xref: SCTID:716722005 {source="MONDO:equivalentTo"}
xref: UMLS:C3900111 {source="MEDGEN:859705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016218 {source="NCIT:C116927", source="Orphanet:98917"} ! Guillain-Barre syndrome
relationship: excluded_subClassOf MONDO:0007691 {source="NCIT:C116927", source="https://orcid.org/0000-0001-5208-3432"} ! Guillain-Barre syndrome, familial
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020349
name: acute motor axonal neuropathy
def: "Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS)." [Orphanet:98918]
subset: gard_rare {source="GARD:19602", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98918"}
subset: orphanet_rare {source="Orphanet:98918"}
subset: rare
synonym: "acute pure motor GBS" EXACT [Orphanet:98918]
synonym: "acute pure motor Guillain-Barre syndrome" EXACT [Orphanet:98918]
synonym: "acute pure motor Guillain-Barré syndrome" EXACT [Orphanet:98918]
synonym: "AMAN" EXACT ABBREVIATION [Orphanet:98918]
xref: GARD:19602 {source="MONDO:GARD"}
xref: ICD10CM:G61.0 {source="Orphanet:98918/ntbt", source="Orphanet:98918"}
xref: MEDGEN:855842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116929 {source="MONDO:equivalentTo"}
xref: Orphanet:98918 {source="MONDO:equivalentTo"}
xref: SCTID:715770009 {source="MONDO:equivalentTo"}
xref: UMLS:C3890941 {source="MEDGEN:855842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016218 {source="NCIT:C116929", source="Orphanet:98918"} ! Guillain-Barre syndrome
relationship: excluded_subClassOf MONDO:0007691 {source="NCIT:C116929", source="https://orcid.org/0000-0001-5208-3432"} ! Guillain-Barre syndrome, familial
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020350
name: obsolete Miller-Fisher syndrome
is_obsolete: true
replaced_by: MONDO:0005851

[Term]
id: MONDO:0020351
name: Blake pouch cyst
def: "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development." [Orphanet:98922]
subset: gard_rare {source="GARD:19603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98922"}
subset: ordo_morphological_anomaly {source="Orphanet:98922"}
subset: orphanet_rare {source="Orphanet:98922"}
subset: rare
xref: GARD:19603 {source="MONDO:GARD"}
xref: ICD10CM:Q03.1 {source="Orphanet:98922", source="Orphanet:98922/ntbt"}
xref: MEDGEN:783279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98922 {source="MONDO:equivalentTo"}
xref: UMLS:C3662124 {source="MEDGEN:783279", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020134 {source="Orphanet:98922"} ! cystic malformation of the posterior fossa

[Term]
id: MONDO:0020352
name: multiple system atrophy, parkinsonian type
def: "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)." [Orphanet:98933]
subset: gard_rare {source="GARD:19604", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98933"}
subset: rare
synonym: "MSA, parkinsonian type" EXACT [Orphanet:98933]
synonym: "MSA-p" EXACT [Orphanet:98933]
xref: GARD:19604 {source="MONDO:GARD"}
xref: ICD10CM:G23.2 {source="Orphanet:98933", source="MONDO:directSiblingOf", source="Orphanet:98933/e"}
xref: icd11.foundation:296753000 {source="MONDO:equivalentTo", source="Orphanet:98933", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200036 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:98933 {source="MONDO:equivalentTo"}
xref: UMLS:C5554235 {source="MEDGEN:1842393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007803 {source="Orphanet:98933"} ! multiple system atrophy
is_a: MONDO:0021095 ! parkinsonian disorder

[Term]
id: MONDO:0020353
name: von Hippel anomaly
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_malformation_syndrome {source="Orphanet:98941"}
subset: rare
xref: ICD10CM:Q13.4 {source="Orphanet:98941", source="Orphanet:98941/attributed", source="Orphanet:98941/ntbt"}
xref: Orphanet:98941 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0011414 {source="Orphanet:98941"} ! Peters anomaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020354
name: coloboma of choroid and retina
def: "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." [Orphanet:98942]
subset: gard_rare {source="GARD:16875", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98942"}
subset: ordo_morphological_anomaly {source="Orphanet:98942"}
subset: orphanet_rare {source="Orphanet:98942"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choroidal coloboma" RELATED [GARD:0001432]
synonym: "retinal coloboma" RELATED [GARD:0001432]
synonym: "retinochoroidal coloboma" RELATED [GARD:0001432]
xref: GARD:16875 {source="MONDO:GARD"}
xref: ICD10CM:Q14.8 {source="Orphanet:98942/attributed", source="Orphanet:98942/ntbt", source="Orphanet:98942"}
xref: icd11.foundation:20223105 {source="Orphanet:98942", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1643994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98942 {source="MONDO:equivalentTo"}
xref: SCTID:39302008 {source="MONDO:equivalentTo"}
xref: UMLS:C4708599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643994"}
is_a: MONDO:0007350 ! coloboma, ocular, autosomal dominant

[Term]
id: MONDO:0020355
name: coloboma of eye lens
subset: gard_rare {source="GARD:1433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98943"}
subset: ordo_morphological_anomaly {source="Orphanet:98943"}
subset: orphanet_rare {source="Orphanet:98943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:1433 {source="MONDO:GARD"}
xref: ICD10CM:Q12.2 {source="Orphanet:98943", source="Orphanet:98943/e", source="Orphanet:98943/specific"}
xref: icd11.foundation:1368271881 {source="Orphanet:98943", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:451043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98943 {source="MONDO:equivalentTo"}
xref: UMLS:C0344516 {source="MEDGEN:451043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001476 {source="Orphanet:98943"} ! coloboma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens" xsd:anyURI {source="GARD:0001433"}

[Term]
id: MONDO:0020356
name: coloboma of iris
def: "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." [NCIT:C98879]
subset: gard_rare {source="GARD:1434", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98944"}
subset: ordo_morphological_anomaly {source="Orphanet:98944"}
subset: orphanet_rare {source="Orphanet:98944"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coloboma of iris" EXACT [MONDO:ambiguous]
synonym: "coloboma of iris (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "coloboma of the iris" EXACT [NCIT:C98879]
xref: GARD:1434 {source="MONDO:GARD"}
xref: HP:0000612 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q13.0 {source="Orphanet:98944", source="Orphanet:98944/specific", source="Orphanet:98944/e"}
xref: icd11.foundation:1552972259 {source="MONDO:equivalentTo", source="Orphanet:98944"}
xref: MedDRA:10052642 {source="Orphanet:98944", source="Orphanet:98944/e"}
xref: MEDGEN:116097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98879 {source="MONDO:equivalentTo"}
xref: Orphanet:98944 {source="MONDO:equivalentTo"}
xref: SCTID:9446007 {source="MONDO:equivalentTo"}
xref: UMLS:C0240063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116097"}
is_a: MONDO:0001476 {source="MONDO:Redundant", source="NCIT:C98879"} ! coloboma
is_a: MONDO:0007350 ! coloboma, ocular, autosomal dominant
property_value: IAO:0000589 "coloboma of iris (disease)" xsd:string

[Term]
id: MONDO:0020357
name: coloboma of eyelid
def: "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." [NCIT:C98878]
subset: gard_rare {source="GARD:19605", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98946"}
subset: ordo_morphological_anomaly {source="Orphanet:98946"}
subset: orphanet_rare {source="Orphanet:98946"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "coloboma of the eyelid" EXACT [NCIT:C98878]
xref: GARD:19605 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:98946/inclusion", source="Orphanet:98946", source="Orphanet:98946/ntbt"}
xref: icd11.foundation:684436925 {source="MONDO:equivalentTo", source="Orphanet:98946", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:141737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98878 {source="MONDO:equivalentTo"}
xref: Orphanet:98946 {source="MONDO:equivalentTo"}
xref: SCTID:95202004 {source="MONDO:equivalentTo"}
xref: UMLS:C0521573 {source="MEDGEN:141737", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001476 {source="Orphanet:98946"} ! coloboma

[Term]
id: MONDO:0020358
name: obsolete coloboma of optic disk
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4364" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007354

[Term]
id: MONDO:0020359
name: congenital symblepharon
subset: gard_rare {source="GARD:19606", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98948"}
subset: rare
xref: DOID:0111720 {source="MONDO:equivalentTo"}
xref: GARD:19606 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:98948/attributed", source="Orphanet:98948/ntbt", source="Orphanet:98948"}
xref: MEDGEN:509041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98948 {source="MONDO:equivalentTo"}
xref: UMLS:C0152454 {source="MEDGEN:509041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007410 {source="Orphanet:98948"} ! isolated cryptophthalmia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020360
name: complete cryptophthalmia
subset: gard_rare {source="GARD:16876", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98949"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0111719 {source="MONDO:equivalentTo"}
xref: GARD:16876 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:98949", source="Orphanet:98949/attributed", source="Orphanet:98949/ntbt"}
xref: MEDGEN:1773866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98949 {source="MONDO:equivalentTo"}
xref: UMLS:C5437887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773866"}
is_a: MONDO:0007410 {source="Orphanet:98949"} ! isolated cryptophthalmia

[Term]
id: MONDO:0020361
name: partial cryptophthalmia
subset: gard_rare {source="GARD:19607", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98950"}
subset: rare
xref: DOID:0111718 {source="MONDO:equivalentTo"}
xref: GARD:19607 {source="MONDO:GARD"}
xref: ICD10CM:Q11.2 {source="Orphanet:98950", source="Orphanet:98950/attributed", source="Orphanet:98950/ntbt"}
xref: MEDGEN:1843099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98950 {source="MONDO:equivalentTo"}
xref: UMLS:C5681641 {source="MEDGEN:1843099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007410 {source="Orphanet:98950"} ! isolated cryptophthalmia

[Term]
id: MONDO:0020362
name: inverse Marcus-Gunn phenomenon
def: "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." [Orphanet:98951]
subset: gard_rare {source="GARD:19608", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98951"}
subset: rare
xref: GARD:19608 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:98951/attributed", source="Orphanet:98951/ntbt", source="Orphanet:98951"}
xref: MEDGEN:1784220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98951 {source="MONDO:equivalentTo"}
xref: UMLS:C5548210 {source="MEDGEN:1784220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007946 {source="Orphanet:98951"} ! jaw-winking syndrome

[Term]
id: MONDO:0020363
name: honey-droplet corneal dystrophy
subset: gard_rare {source="GARD:19609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98958"}
subset: orphanet_rare {source="Orphanet:98958"}
subset: rare
xref: GARD:19609 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98958", source="Orphanet:98958/ntbt"}
xref: MEDGEN:573075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98958 {source="MONDO:equivalentTo"}
xref: UMLS:C0339300 {source="MEDGEN:573075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 ! disease
is_a: MONDO:0020212 ! superficial corneal dystrophy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare

[Term]
id: MONDO:0020364
name: posterior polymorphous corneal dystrophy
def: "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." [Orphanet:98973]
subset: gard_rare {source="GARD:16882", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98973"}
subset: orphanet_rare {source="Orphanet:98973"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal dystrophy, posterior polymorphous" EXACT [OMIMPS:122000]
synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT [DOID:0060457]
synonym: "posterior polymorphous dystrophy" EXACT [Orphanet:98973]
synonym: "PPCD" EXACT ABBREVIATION [DOID:0060457, Orphanet:98973]
synonym: "Schlichting dystrophy" EXACT [DOID:0060457, Orphanet:98973]
xref: DOID:0060457 {source="MONDO:equivalentTo"}
xref: GARD:16882 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98973/attributed", source="Orphanet:98973/ntbt", source="Orphanet:98973", source="DOID:0060457"}
xref: MEDGEN:87382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562745 {source="DOID:0060457"}
xref: OMIMPS:122000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:98973 {source="DOID:0060457", source="MONDO:equivalentTo"}
xref: UMLS:C0339284 {source="MEDGEN:87382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000766 {source="DOID:0060457"} ! corneal endothelial dystrophy
is_a: MONDO:0020214 {source="Orphanet:98973"} ! posterior corneal dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:122000"} ! inherited

[Term]
id: MONDO:0020365
name: congenital hereditary endothelial dystrophy type I
def: "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." [Orphanet:98975]
subset: gard_rare {source="GARD:19610", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant CHED" EXACT [Orphanet:98975]
synonym: "autosomal dominant congenital hereditary endothelial dystrophy" EXACT [Orphanet:98975]
synonym: "CHED1" EXACT ABBREVIATION [Orphanet:98975]
synonym: "CHEDI" EXACT ABBREVIATION [Orphanet:98975]
synonym: "congenital hereditary endothelial dystrophy type 1" EXACT [Orphanet:98975]
xref: GARD:19610 {source="MONDO:GARD"}
xref: ICD10CM:H18.5 {source="Orphanet:98975/attributed", source="Orphanet:98975/ntbt", source="Orphanet:98975"}
xref: MEDGEN:736888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:121700 {source="MONDO:equivalentObsolete", source="Orphanet:98975", source="Orphanet:98975/e"}
xref: Orphanet:98975 {source="MONDO:equivalentTo"}
xref: SCTID:416633008 {source="MONDO:equivalentTo"}
xref: UMLS:C1562945 {source="MEDGEN:736888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020214 {source="Orphanet:98975"} ! posterior corneal dystrophy

[Term]
id: MONDO:0020366
name: congenital glaucoma
def: "A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm." [https://orcid.org/0000-0001-5208-3432, Orphanet:98976]
comment: Editor note: check placement of subclasses
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "buphthalmia" EXACT [Orphanet:98976]
synonym: "buphthalmos" EXACT [Orphanet:98976]
synonym: "Buphthalmus" EXACT [Orphanet:98976]
synonym: "hydrophthalmos" EXACT [MONDO:0006788]
synonym: "primary congenital glaucoma" NARROW [Orphanet:98976]
xref: DOID:11212 {source="MONDO:equivalentTo", source="EFO:1000968"}
xref: ICD10CM:Q15.0 {source="Orphanet:98976", source="Orphanet:98976/e", source="Orphanet:98976/specific", source="DOID:11212"}
xref: ICD9:743.2 {source="DOID:11212"}
xref: ICD9:743.20 {source="DOID:11212"}
xref: MEDGEN:42532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006871 {source="MONDO:equivalentTo", source="EFO:1000968", source="DOID:11212"}
xref: NCIT:C50648 {source="MONDO:equivalentTo", source="DOID:11212"}
xref: Orphanet:98976
xref: SCTID:13832009 {source="DOID:11212"}
xref: SCTID:156898000 {source="DOID:11212"}
xref: SCTID:204111004 {source="DOID:11212"}
xref: SCTID:204112006 {source="DOID:11212"}
xref: SCTID:204113001 {source="MONDO:equivalentTo", source="DOID:11212"}
xref: SCTID:204114007 {source="DOID:11212"}
xref: SCTID:204115008 {source="DOID:11212"}
xref: SCTID:204121007 {source="DOID:11212"}
xref: SCTID:392368005 {source="DOID:11212"}
xref: SCTID:392371002 {source="DOID:11212"}
xref: SCTID:413728006 {source="DOID:11212"}
xref: UMLS:C0020302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42532"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005041 {source="https://orcid.org/0000-0001-5208-3432"} ! glaucoma
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7282" xsd:anyURI

[Term]
id: MONDO:0020367
name: juvenile open angle glaucoma
def: "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment." [Orphanet:98977]
subset: gard_rare {source="GARD:16883", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98977"}
subset: orphanet_rare {source="Orphanet:98977"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "childhood glaucoma (disease)" EXACT []
synonym: "glaucoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "glaucoma of childhood" EXACT [DOID:1068, ICD9CM:365.14]
synonym: "JOAG" EXACT ABBREVIATION []
synonym: "juvenile glaucoma" EXACT []
synonym: "paediatric glaucoma (disease)" EXACT OMO:0003005 []
synonym: "pediatric glaucoma (disease)" EXACT [MONDO:patterns/childhood]
xref: DOID:1068 {source="MONDO:equivalentTo"}
xref: GARD:16883 {source="MONDO:GARD"}
xref: ICD9:365.14 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10064032 {source="Orphanet:98977", source="Orphanet:98977/e"}
xref: MEDGEN:453382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98977 {source="MONDO:equivalentTo"}
xref: SCTID:71111008 {source="MONDO:equivalentTo"}
xref: UMLS:C2981140 {source="MEDGEN:453382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005338 {source="DOID:1068"} ! open-angle glaucoma
intersection_of: MONDO:0005041 ! glaucoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0020368
name: Axenfeld anomaly
def: "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies." [Orphanet:98978]
subset: gard_rare {source="GARD:16485", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:98978"}
subset: ordo_morphological_anomaly {source="Orphanet:98978"}
subset: orphanet_rare {source="Orphanet:98978"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16485 {source="MONDO:GARD"}
xref: ICD10CM:Q15.0 {source="Orphanet:98978", source="Orphanet:98978/index", source="Orphanet:98978/ntbt"}
xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10058653 {source="Orphanet:98978", source="Orphanet:98978/e"}
xref: MEDGEN:78611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98978 {source="MONDO:equivalentTo"}
xref: SCTID:204152008 {source="MONDO:equivalentTo"}
xref: UMLS:C0266548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78611"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder
relationship: excluded_subClassOf MONDO:0020218 {source="Orphanet:98978", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete goniodysgenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4397" xsd:anyURI

[Term]
id: MONDO:0020369
name: Chandler syndrome
def: "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy." [Orphanet:98979]
subset: gard_rare {source="GARD:6033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:918"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98979"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chandler's Syndrome" EXACT [NORD:918]
synonym: "Chandler's syndrome" EXACT [DOID:11554, GARD:0006033]
synonym: "dystrophy of corneal endothelium" EXACT [DOID:11554]
synonym: "endothelial corneal dystrophy" EXACT [DOID:11554, ICD9CM:371.57]
synonym: "posterior membrane corneal dystrophy" EXACT [DOID:11554]
xref: DOID:11554 {source="MONDO:equivalentTo"}
xref: GARD:6033 {source="MONDO:GARD"}
xref: ICD10CM:H18.51 {source="DOID:11554"}
xref: ICD10CM:H21.2 {source="Orphanet:98979", source="Orphanet:98979/attributed", source="Orphanet:98979/ntbt"}
xref: ICD9:371.57 {source="MONDO:directSiblingOf", source="DOID:11554"}
xref: MedDRA:10057487 {source="Orphanet:98979", source="Orphanet:98979/e"}
xref: MEDGEN:107777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057129 {source="DOID:11554"}
xref: NORD:918 {source="MONDO:NORD"}
xref: Orphanet:98979 {source="MONDO:equivalentTo"}
xref: SCTID:16949007 {source="DOID:11554"}
xref: SCTID:231935005 {source="DOID:11554"}
xref: SCTID:392481002 {source="DOID:11554"}
xref: SCTID:404632009 {source="DOID:11554"}
xref: SCTID:416960004 {source="MONDO:directSiblingOf", source="DOID:11554"}
xref: UMLS:C0544008 {source="MEDGEN:107777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018102 {source="DOID:11554", source="MONDO:Redundant"} ! corneal dystrophy
is_a: MONDO:0018988 {source="Orphanet:98979"} ! iridocorneal endothelial syndrome

[Term]
id: MONDO:0020370
name: Cogan-Reese syndrome
def: "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." [Orphanet:98980]
subset: gard_rare {source="GARD:6125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98980"}
subset: rare
xref: DOID:0060217 {source="MONDO:equivalentTo"}
xref: GARD:6125 {source="MONDO:GARD"}
xref: ICD10CM:H21.2 {source="Orphanet:98980/attributed", source="Orphanet:98980/ntbt", source="Orphanet:98980"}
xref: MedDRA:10059200 {source="Orphanet:98980/e", source="DOID:0060217", source="Orphanet:98980"}
xref: MEDGEN:218910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84644 {source="MONDO:equivalentTo", source="DOID:0060217"}
xref: Orphanet:98980 {source="MONDO:equivalentTo", source="DOID:0060217"}
xref: SCTID:129624009 {source="DOID:0060217"}
xref: SCTID:404633004 {source="MONDO:equivalentTo", source="DOID:0060217"}
xref: UMLS:C1168173 {source="MEDGEN:218910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84644"} ! syndromic disease
is_a: MONDO:0018988 {source="Orphanet:98980"} ! iridocorneal endothelial syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome" xsd:anyURI {source="GARD:0006125"}

[Term]
id: MONDO:0020371
name: essential iris atrophy
def: "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." [Orphanet:98981]
subset: gard_rare {source="GARD:19611", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1109"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98981"}
subset: rare
xref: GARD:19611 {source="MONDO:GARD"}
xref: ICD10CM:H21.2 {source="Orphanet:98981/ntbt", source="Orphanet:98981/inclusion", source="Orphanet:98981"}
xref: ICD9:364.51 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:543177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1109 {source="MONDO:NORD"}
xref: Orphanet:98981 {source="MONDO:equivalentTo"}
xref: SCTID:25913001 {source="MONDO:equivalentTo"}
xref: UMLS:C0271111 {source="MEDGEN:543177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018988 {source="Orphanet:98981"} ! iridocorneal endothelial syndrome

[Term]
id: MONDO:0020372
name: early-onset sutural cataract
subset: gard_rare {source="GARD:16885", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98985"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "early-onset cataract with Y-shaped suture opacities" EXACT [Orphanet:98985]
xref: GARD:16885 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98985", source="Orphanet:98985/attributed", source="Orphanet:98985/ntbt"}
xref: Orphanet:98985 {source="MONDO:equivalentTo"}
is_a: MONDO:0020379 {source="Orphanet:98985"} ! early-onset zonular cataract

[Term]
id: MONDO:0020373
name: early-onset anterior polar cataract
subset: gard_rare {source="GARD:1140", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98988"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract anterior polar" RELATED [GARD:0001140]
synonym: "early-onset anterior subcapsular cataract" EXACT [Orphanet:98988]
xref: GARD:1140 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98988", source="Orphanet:98988/attributed", source="Orphanet:98988/ntbt"}
xref: MEDGEN:340806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538282 {source="Orphanet:98988", source="Orphanet:98988/e"}
xref: Orphanet:98988 {source="MONDO:equivalentTo"}
xref: UMLS:C1855179 {source="MEDGEN:340806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020377 {source="Orphanet:98988"} ! early-onset partial cataract

[Term]
id: MONDO:0020374
name: cerulean cataract
def: "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." [Orphanet:98989]
subset: gard_rare {source="GARD:9508", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blue-dot cataract" EXACT [Orphanet:98989]
synonym: "cataract, congenital, blue dot type 1" RELATED [GARD:0009508]
synonym: "cataract, congenital, cerulean type 1" RELATED [GARD:0009508]
xref: GARD:9508 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98989", source="Orphanet:98989/index", source="Orphanet:98989/ntbt"}
xref: ICD9:743.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537955 {source="MONDO:equivalentTo", source="Orphanet:98989", source="Orphanet:98989/e"}
xref: Orphanet:98989 {source="MONDO:equivalentTo"}
xref: SCTID:204138006 {source="MONDO:equivalentTo"}
xref: UMLS:C0344523 {source="MONDO:equivalentTo", source="MEDGEN:138007", source="MONDO:MEDGEN"}
is_a: MONDO:0020377 {source="Orphanet:98989"} ! early-onset partial cataract

[Term]
id: MONDO:0020375
name: obsolete coralliform cataract
subset: ordo_subtype_of_a_disorder {source="Orphanet:98990"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:16886 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q12.0 {source="Orphanet:98990/attributed", source="Orphanet:98990/ntbt", source="Orphanet:98990"}
xref: Orphanet:98990 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020376
name: early-onset nuclear cataract
subset: gard_rare {source="GARD:16887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98991"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16887 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98991/attributed", source="Orphanet:98991/ntbt", source="Orphanet:98991"}
xref: MedDRA:10007759 {source="Orphanet:98991/e", source="Orphanet:98991"}
xref: MedDRA:10057735 {source="Orphanet:98991/e", source="Orphanet:98991"}
xref: MEDGEN:1842550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563333 {source="MONDO:equivalentTo"}
xref: Orphanet:98991 {source="MONDO:equivalentTo"}
xref: UMLS:C5681644 {source="MEDGEN:1842550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020379 {source="Orphanet:98991"} ! early-onset zonular cataract

[Term]
id: MONDO:0020377
name: early-onset partial cataract
subset: gard_rare {source="GARD:16888", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98992"}
subset: rare
xref: GARD:16888 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98992/attributed", source="Orphanet:98992/ntbt", source="Orphanet:98992"}
xref: MEDGEN:1842758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98992 {source="MONDO:equivalentTo"}
xref: UMLS:C5681643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842758"}
is_a: MONDO:0011060 {source="Orphanet:98992"} ! early-onset non-syndromic cataract

[Term]
id: MONDO:0020378
name: early-onset posterior polar cataract
subset: gard_rare {source="GARD:16889", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98993"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16889 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98993", source="Orphanet:98993/attributed", source="Orphanet:98993/ntbt"}
xref: MEDGEN:163646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98993 {source="MONDO:equivalentTo"}
xref: UMLS:C0858617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163646"}
is_a: MONDO:0013411 ! cataract 16 multiple types

[Term]
id: MONDO:0020379
name: early-onset zonular cataract
subset: gard_rare {source="GARD:1898", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98995"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:1898 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98995/attributed", source="Orphanet:98995/ntbt", source="Orphanet:98995"}
xref: MEDGEN:1842642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535342 {source="MONDO:relatedTo", source="Orphanet:98995", source="Orphanet:98995/e"}
xref: Orphanet:98995 {source="MONDO:equivalentTo"}
xref: UMLS:C5681642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842642"}
is_a: MONDO:0020377 {source="Orphanet:98995"} ! early-onset partial cataract
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract" xsd:anyURI {source="GARD:0001898"}

[Term]
id: MONDO:0020380
name: autosomal dominant cerebellar ataxia
def: "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy." [https://orcid.org/0000-0001-5208-3432, Orphanet:99]
subset: disease_grouping
subset: gard_rare {source="GARD:4346", source="MONDO:GARD"}
subset: nord_rare {source="NORD:825", source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:99"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADCA" EXACT ABBREVIATION [GARD:0004346, Orphanet:99]
synonym: "Autosomal Dominant Hereditary Ataxia" EXACT [NORD:825]
synonym: "autosomal dominant spinocerebellar ataxia" EXACT [Orphanet:99]
synonym: "cerebellar ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
synonym: "Pierre Marie cerebellar ataxia (formerly)" RELATED [GARD:0004346]
synonym: "SCA" BROAD ABBREVIATION []
synonym: "spinocerebellar ataxia" BROAD [DOID:1441]
xref: DOID:1441 {source="MONDO:equivalentTo"}
xref: GARD:4346 {source="MONDO:GARD"}
xref: ICD10CM:G11.8 {source="Orphanet:99/attributed", source="Orphanet:99/ntbt", source="Orphanet:99"}
xref: ICD9:334.3 {source="DOID:1441", source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1684639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020754 {source="DOID:1441"}
xref: NCIT:C82341 {source="DOID:1441"}
xref: NORD:825 {source="MONDO:NORD"}
xref: OMIMPS:164400 {source="MONDO:equivalentTo"}
xref: Orphanet:99 {source="MONDO:equivalentTo"}
xref: SCTID:129609000 {source="DOID:1441", source="MONDO:equivalentTo"}
xref: UMLS:C4087347 {source="MEDGEN:1684639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015547 ! hereditary dementia
is_a: MONDO:0022687 {source="MONDO:Redundant"} ! cerebellar degeneration
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
is_a: MONDO:0100310 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary cerebellar ataxia
intersection_of: MONDO:0100310 ! hereditary cerebellar ataxia
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: disease_has_feature HP:0001251 ! Ataxia
relationship: disease_has_feature HP:0002503 ! Spinocerebellar tract degeneration
relationship: disease_has_major_feature MONDO:0001627 ! dementia
relationship: excluded_subClassOf MONDO:0000437 {source="MONDO:Entailed", source="Orphanet:99/inferred", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! cerebellar ataxia
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020263-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: excluded_subClassOf MONDO:0100309 {source="DOID:1441", source="Orphanet:99", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:164400"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI

[Term]
id: MONDO:0020381
name: patterned macular dystrophy
def: "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." [DOID:0060863]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macular dystrophy, patterned" EXACT [OMIMPS:169150]
synonym: "patterned dystrophy of retinal pigment epithelium" EXACT [DOID:0060863]
xref: DOID:0060863 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0060863", source="Orphanet:99001/attributed", source="Orphanet:99001/ntbt", source="Orphanet:99001"}
xref: OMIMPS:169150 {source="MONDO:equivalentTo", source="DOID:0060863"}
xref: Orphanet:99001 {source="MONDO:relatedTo", source="DOID:0060863"}
xref: SCTID:725590001 {source="MONDO:directSiblingOf"}
is_a: MONDO:0003004 {source="DOID:0060863"} ! macular degeneration
is_a: MONDO:0018973 {source="Orphanet:99001"} ! patterned dystrophy of the retinal pigment epithelium
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:169150"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1819" xsd:anyURI

[Term]
id: MONDO:0020382
name: multifocal pattern dystrophy simulating fundus flavimaculatus
def: "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." [Orphanet:99003]
subset: gard_rare {source="GARD:19612", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99003"}
subset: orphanet_rare {source="Orphanet:99003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "multifocal pattern dystrophy simulating Stargardt disease" EXACT [Orphanet:99003]
xref: GARD:19612 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99003/attributed", source="Orphanet:99003/ntbt", source="Orphanet:99003"}
xref: MEDGEN:1376850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99003 {source="MONDO:equivalentTo"}
xref: SCTID:723408004 {source="MONDO:equivalentTo"}
xref: UMLS:C4509881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376850"}
is_a: MONDO:0018973 {source="Orphanet:99003"} ! patterned dystrophy of the retinal pigment epithelium

[Term]
id: MONDO:0020383
name: fundus pulverulentus
def: "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." [Orphanet:99004]
subset: gard_rare {source="GARD:19613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99004"}
subset: orphanet_rare {source="Orphanet:99004"}
subset: rare
xref: GARD:19613 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="Orphanet:99004", source="MONDO:relatedTo", source="Orphanet:99004/attributed", source="Orphanet:99004/ntbt"}
xref: MEDGEN:1669231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99004 {source="MONDO:equivalentTo"}
xref: UMLS:C4749286 {source="MEDGEN:1669231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018973 {source="Orphanet:99004"} ! patterned dystrophy of the retinal pigment epithelium

[Term]
id: MONDO:0020384
name: Niemann-Pick disease type E
def: "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease." [Orphanet:99022]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: ICD10CM:E75.2 {source="Orphanet:99022/attributed", source="Orphanet:99022/ntbt", source="Orphanet:99022"}
xref: MEDGEN:82781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99022 {source="MONDO:equivalentObsolete"}
xref: SCTID:73399005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82781"}
is_a: MONDO:0001982 {source="Orphanet:99022", source="https://orcid.org/0000-0002-6601-2165"} ! Niemann-Pick disease

[Term]
id: MONDO:0020385
name: congenitally uncorrected transposition of the great arteries with coarctation
subset: gard_rare {source="GARD:19614", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99042"}
subset: rare
synonym: "congenitally uncorrected transposition of the great vessels with coarctation" EXACT [Orphanet:99042]
synonym: "TGA with coarctation" EXACT [Orphanet:99042]
xref: GARD:19614 {source="MONDO:GARD"}
xref: ICD10CM:Q20.3 {source="Orphanet:99042/attributed", source="Orphanet:99042/ntbt", source="Orphanet:99042"}
xref: MEDGEN:1842891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200703 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99042 {source="MONDO:equivalentTo"}
xref: UMLS:C5680321 {source="MEDGEN:1842891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019443 {source="Orphanet:99042"} ! dextro-looped transposition of the great arteries
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020386
name: double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
subset: gard_rare {source="GARD:19615", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99043"}
subset: rare
synonym: "DORV with subaortic or doubly committed VSD with pulmonary stenosis" EXACT [Orphanet:99043]
synonym: "DORV, Fallot type" EXACT [Orphanet:99043]
synonym: "double outlet right ventricle, Fallot type" EXACT [Orphanet:99043]
xref: GARD:19615 {source="MONDO:GARD"}
xref: ICD10CM:Q20.1 {source="Orphanet:99043", source="Orphanet:99043/attributed", source="Orphanet:99043/ntbt"}
xref: ICD10CM:Q21.3 {source="MONDO:relatedTo", source="Orphanet:99043", source="Orphanet:99043/attributed", source="Orphanet:99043/ntbt"}
xref: Orphanet:99043 {source="MONDO:equivalentTo"}
xref: SCTID:253298003 {source="MONDO:equivalentTo"}
is_a: MONDO:0018089 {source="Orphanet:99043"} ! double outlet right ventricle

[Term]
id: MONDO:0020387
name: double outlet right ventricle with subpulmonary ventricular septal defect
subset: gard_rare {source="GARD:19616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99045"}
subset: rare
synonym: "DORV with subpulmonary VSD" EXACT [Orphanet:99045]
synonym: "DORV-TGA" EXACT [Orphanet:99045]
synonym: "Double outlet right ventricle with transposition of the great arteries" EXACT [Orphanet:99045]
synonym: "Taussig-Bing syndrome" EXACT [Orphanet:99045]
xref: GARD:19616 {source="MONDO:GARD"}
xref: ICD10CM:Q20.1 {source="Orphanet:99045/attributed", source="Orphanet:99045/ntbt", source="Orphanet:99045"}
xref: icd11.foundation:1963185163 {source="MONDO:equivalentTo", source="Orphanet:99045", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:365502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99045 {source="MONDO:equivalentTo"}
xref: SCTID:448794008 {source="MONDO:equivalentTo"}
xref: UMLS:C1956412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:365502"}
is_a: MONDO:0018089 {source="Orphanet:99045"} ! double outlet right ventricle

[Term]
id: MONDO:0020388
name: double outlet right ventricle with non-committed subpulmonary ventricular septal defect
subset: gard_rare {source="GARD:19617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99046"}
subset: rare
synonym: "DORV with non-committed subpulmonary VSD" EXACT [Orphanet:99046]
xref: GARD:19617 {source="MONDO:GARD"}
xref: ICD10CM:Q20.1 {source="Orphanet:99046/attributed", source="Orphanet:99046/ntbt", source="Orphanet:99046"}
xref: icd11.foundation:2032277111 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99046"}
xref: MEDGEN:365501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99046 {source="MONDO:equivalentTo"}
xref: UMLS:C1956410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:365501"}
is_a: MONDO:0018089 {source="Orphanet:99046"} ! double outlet right ventricle

[Term]
id: MONDO:0020389
name: pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome
subset: gard_rare {source="GARD:19618", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99048"}
subset: ordo_malformation_syndrome {source="Orphanet:99048"}
subset: orphanet_rare {source="Orphanet:99048"}
subset: rare
synonym: "absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome" EXACT [Orphanet:99048]
synonym: "APV/PDA, non-Fallot type" EXACT [Orphanet:99048]
synonym: "pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome" RELATED [Orphanet:99048]
synonym: "PVA/PDA, non-Fallot type" EXACT [Orphanet:99048]
xref: GARD:19618 {source="MONDO:GARD"}
xref: ICD10CM:Q22.2 {source="Orphanet:99048", source="Orphanet:99048/ntbt"}
xref: MEDGEN:1678560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99048 {source="MONDO:equivalentTo"}
xref: UMLS:C5191313 {source="MEDGEN:1678560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020064 {source="Orphanet:99048"} ! pulmonary valve agenesis

[Term]
id: MONDO:0020390
name: pulmonary artery coming from patent ductus arteriosus
subset: gard_rare {source="GARD:19619", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99049"}
subset: ordo_morphological_anomaly {source="Orphanet:99049"}
subset: orphanet_rare {source="Orphanet:99049"}
subset: rare
xref: GARD:19619 {source="MONDO:GARD"}
xref: ICD10CM:Q25.7 {source="Orphanet:99049", source="Orphanet:99049/ntbt"}
xref: MEDGEN:756326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99049 {source="MONDO:equivalentTo"}
xref: UMLS:C3163916 {source="MEDGEN:756326", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015239 {source="Orphanet:99049"} ! abnormal origin of the pulmonary artery

[Term]
id: MONDO:0020391
name: pulmonary artery coming from the aorta
def: "Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life." [Orphanet:99050]
subset: gard_rare {source="GARD:4586", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99050"}
subset: ordo_morphological_anomaly {source="Orphanet:99050"}
subset: orphanet_rare {source="Orphanet:99050"}
subset: rare
synonym: "abnormal origin of right or left pulmonary artery from the aorta" EXACT [Orphanet:99050]
synonym: "hemitruncus arteriosus" EXACT [Orphanet:99050]
xref: GARD:4586 {source="MONDO:GARD"}
xref: ICD10CM:Q25.7 {source="Orphanet:99050", source="Orphanet:99050/ntbt"}
xref: MEDGEN:824773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200281 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99050 {source="MONDO:equivalentTo"}
xref: UMLS:C3838927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:824773"}
is_a: MONDO:0015239 {source="Orphanet:99050"} ! abnormal origin of the pulmonary artery
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4586/pulmonary-artery-coming-from-the-aorta" xsd:anyURI {source="GARD:0004586"}

[Term]
id: MONDO:0020392
name: obsolete discrete fixed membranous subaortic stenosis
subset: ordo_subtype_of_a_disorder {source="Orphanet:99051"}
xref: GARD:16892 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q24.4 {source="Orphanet:99051", source="Orphanet:99051/ntbt"}
xref: Orphanet:99051 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020393
name: discrete fibromuscular subaortic stenosis
subset: gard_rare {source="GARD:19620", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99052"}
subset: rare
xref: GARD:19620 {source="MONDO:GARD"}
xref: ICD10CM:Q24.4 {source="Orphanet:99052", source="Orphanet:99052/ntbt"}
xref: MEDGEN:1842794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99052 {source="MONDO:equivalentTo"}
xref: UMLS:C5681645 {source="MONDO:equivalentTo", source="MEDGEN:1842794", source="MONDO:MEDGEN"}
is_a: MONDO:0017727 {source="Orphanet:99052"} ! fixed subaortic stenosis

[Term]
id: MONDO:0020394
name: tunnel subaortic stenosis
subset: gard_rare {source="GARD:19621", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99053"}
subset: rare
xref: GARD:19621 {source="MONDO:GARD"}
xref: ICD10CM:Q24.4 {source="Orphanet:99053/ntbt", source="Orphanet:99053"}
xref: MEDGEN:1842964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99053 {source="MONDO:equivalentTo"}
xref: UMLS:C5681647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842964"}
is_a: MONDO:0017727 {source="Orphanet:99053"} ! fixed subaortic stenosis

[Term]
id: MONDO:0020395
name: valvar pulmonary stenosis
def: "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow)." [ICD9:746.02]
subset: gard_rare {source="GARD:19622", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99054"}
subset: rare
xref: GARD:19622 {source="MONDO:GARD"}
xref: ICD10CM:Q22.1 {source="Orphanet:99054", source="Orphanet:99054/ntbt"}
xref: ICD9:746.02 {source="MONDO:equivalentTo"}
xref: MedDRA:10037450 {source="Orphanet:99054/e", source="Orphanet:99054"}
xref: MESH:D011666 {source="Orphanet:99054/e", source="MONDO:relatedTo", source="Orphanet:99054"}
xref: Orphanet:99054 {source="MONDO:equivalentTo"}
is_a: MONDO:0017865 {source="Orphanet:99054"} ! congenital pulmonary valve stenosis

[Term]
id: MONDO:0020396
name: anomaly of the tricuspid valve chordae
def: "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported." [Orphanet:99055]
subset: gard_rare {source="GARD:19623", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99055"}
subset: ordo_morphological_anomaly {source="Orphanet:99055"}
subset: orphanet_rare {source="Orphanet:99055"}
subset: rare
xref: GARD:19623 {source="MONDO:GARD"}
xref: ICD10CM:Q22.8 {source="Orphanet:99055/ntbt", source="Orphanet:99055"}
xref: MEDGEN:757566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99055 {source="MONDO:equivalentTo"}
xref: UMLS:C3165162 {source="MEDGEN:757566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559"} ! cardiovascular disorder
is_a: MONDO:0020289 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital tricuspid malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020397
name: parachute tricuspid valve
def: "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations." [Orphanet:99056]
subset: gard_rare {source="GARD:19624", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99056"}
subset: ordo_morphological_anomaly {source="Orphanet:99056"}
subset: orphanet_rare {source="Orphanet:99056"}
subset: rare
xref: GARD:19624 {source="MONDO:GARD"}
xref: ICD10CM:Q22.8 {source="Orphanet:99056/ntbt", source="Orphanet:99056"}
xref: MEDGEN:576478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99056 {source="MONDO:equivalentTo"}
xref: UMLS:C0344755 {source="MONDO:equivalentTo", source="MEDGEN:576478", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020289 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital tricuspid malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020398
name: congenital mitral stenosis
def: "Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure." [Orphanet:99057]
subset: gard_rare {source="GARD:1496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99057"}
subset: ordo_morphological_anomaly {source="Orphanet:99057"}
subset: orphanet_rare {source="Orphanet:99057"}
subset: rare
synonym: "congenital mitral stenosis" EXACT [MONDO:ambiguous]
synonym: "congenital mitral stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "congenital mitral valve stenosis" EXACT []
synonym: "hereditary mitral valve stenosis" EXACT [MONDO:patterns/hereditary]
xref: GARD:1496 {source="MONDO:GARD"}
xref: HP:0011570 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q23.2 {source="Orphanet:99057/e", source="MONDO:equivalentTo", source="Orphanet:99057"}
xref: icd11.foundation:2102952411 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99057"}
xref: ICD9:746.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200963 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99057 {source="MONDO:equivalentTo"}
xref: SCTID:82458004 {source="MONDO:equivalentTo"}
xref: UMLS:C0158618 {source="MEDGEN:57857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019817 {source="ICD10CM:Q23.2", source="Orphanet:99057"} ! congenital mitral valve insufficiency and/or stenosis
intersection_of: MONDO:0005852 ! mitral valve stenosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000589 "congenital mitral stenosis (disease)" xsd:string

[Term]
id: MONDO:0020399
name: congenital hypoplasia of the mitral valve annulus
def: "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome." [Orphanet:99058]
subset: gard_rare {source="GARD:19625", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99058"}
subset: ordo_morphological_anomaly {source="Orphanet:99058"}
subset: orphanet_rare {source="Orphanet:99058"}
subset: rare
xref: GARD:19625 {source="MONDO:GARD"}
xref: ICD10CM:Q23.2 {source="Orphanet:99058/ntbt", source="MONDO:directSiblingOf", source="Orphanet:99058"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:757607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99058 {source="MONDO:equivalentTo"}
xref: SCTID:449270002 {source="MONDO:equivalentTo"}
xref: UMLS:C3165203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:757607"}
is_a: MONDO:0019817 {source="Orphanet:99058"} ! congenital mitral valve insufficiency and/or stenosis
relationship: disease_has_feature HP:0001718 ! Mitral stenosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020400
name: congenital supravalvular mitral ring
def: "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported." [Orphanet:99059]
subset: gard_rare {source="GARD:19626", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99059"}
subset: ordo_morphological_anomaly {source="Orphanet:99059"}
subset: orphanet_rare {source="Orphanet:99059"}
subset: rare
xref: GARD:19626 {source="MONDO:GARD"}
xref: ICD10CM:Q23.2 {source="Orphanet:99059", source="Orphanet:99059/ntbt", source="MONDO:directSiblingOf"}
xref: MEDGEN:539536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200308 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99059 {source="MONDO:equivalentTo"}
xref: UMLS:C0265851 {source="MEDGEN:539536", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019817 {source="Orphanet:99059"} ! congenital mitral valve insufficiency and/or stenosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020401
name: congenital unguarded mitral orifice
def: "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported." [Orphanet:99060]
subset: gard_rare {source="GARD:19627", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99060"}
subset: ordo_morphological_anomaly {source="Orphanet:99060"}
subset: orphanet_rare {source="Orphanet:99060"}
subset: rare
xref: GARD:19627 {source="MONDO:GARD"}
xref: ICD10CM:Q23.3 {source="Orphanet:99060", source="Orphanet:99060/ntbt"}
xref: MEDGEN:576490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99060 {source="MONDO:equivalentTo"}
xref: UMLS:C0344769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576490"}
is_a: MONDO:0019817 {source="Orphanet:99060"} ! congenital mitral valve insufficiency and/or stenosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020402
name: congenital accessory mitral valve tissue
def: "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations." [Orphanet:99061]
subset: gard_rare {source="GARD:19628", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99061"}
subset: ordo_morphological_anomaly {source="Orphanet:99061"}
subset: orphanet_rare {source="Orphanet:99061"}
subset: rare
xref: GARD:19628 {source="MONDO:GARD"}
xref: ICD10CM:Q23.8 {source="Orphanet:99061", source="Orphanet:99061/ntbt"}
xref: MEDGEN:576493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99061 {source="MONDO:equivalentTo"}
xref: UMLS:C0344774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576493"}
is_a: MONDO:0019817 {source="Orphanet:99061"} ! congenital mitral valve insufficiency and/or stenosis

[Term]
id: MONDO:0020403
name: congenital mitral valve agenesis
def: "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation." [Orphanet:99062]
subset: gard_rare {source="GARD:19629", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99062"}
subset: ordo_morphological_anomaly {source="Orphanet:99062"}
subset: orphanet_rare {source="Orphanet:99062"}
subset: rare
xref: GARD:19629 {source="MONDO:GARD"}
xref: ICD10CM:Q23.3 {source="Orphanet:99062", source="Orphanet:99062/ntbt"}
xref: MEDGEN:672659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99062 {source="MONDO:equivalentTo"}
xref: UMLS:C0685721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:672659"}
is_a: MONDO:0019817 {source="Orphanet:99062"} ! congenital mitral valve insufficiency and/or stenosis

[Term]
id: MONDO:0020404
name: shone complex
def: "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." [NCIT:C99058]
subset: gard_rare {source="GARD:19630", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99063"}
subset: ordo_malformation_syndrome {source="Orphanet:99063"}
subset: orphanet_rare {source="Orphanet:99063"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "shone syndrome" EXACT [NCIT:C99058]
synonym: "shone's syndrome (greater than 3 sites)" EXACT [NCIT:C99058]
xref: GARD:19630 {source="MONDO:GARD"}
xref: ICD10CM:Q23.8 {source="Orphanet:99063", source="Orphanet:99063/ntbt"}
xref: ICD9:746.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10066802 {source="Orphanet:99063", source="Orphanet:99063/e"}
xref: MEDGEN:501135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99058 {source="MONDO:equivalentTo"}
xref: Orphanet:99063 {source="MONDO:equivalentTo"}
xref: SCTID:41371000119100 {source="MONDO:equivalentTo"}
xref: UMLS:C1868705 {source="MEDGEN:501135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C99058"} ! syndromic disease
is_a: MONDO:0019817 {source="Orphanet:99063"} ! congenital mitral valve insufficiency and/or stenosis
is_a: MONDO:0024239 {source="NCIT:C99058"} ! congenital anomaly of cardiovascular system

[Term]
id: MONDO:0020405
name: straddling and/or overriding mitral valve
subset: gard_rare {source="GARD:19631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99064"}
subset: rare
xref: GARD:19631 {source="MONDO:GARD"}
xref: ICD10CM:Q23.8 {source="Orphanet:99064/ntbt", source="Orphanet:99064"}
xref: MEDGEN:1842816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99064 {source="MONDO:equivalentTo"}
xref: UMLS:C5681625 {source="MEDGEN:1842816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019818 {source="Orphanet:99064"} ! cleft mitral valve

[Term]
id: MONDO:0020406
name: complete atrioventricular canal-left heart obstruction syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CAVC type A" EXACT [Orphanet:99066]
synonym: "CAVC-left heart obstruction syndrome" EXACT [Orphanet:99066]
synonym: "complete atrioventricular canal type A" EXACT [Orphanet:99066]
xref: ICD10CM:Q21.2 {source="Orphanet:99066/attributed", source="Orphanet:99066/ntbt", source="Orphanet:99066"}
xref: Orphanet:99066 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0015273 {source="Orphanet:99066"} ! complete atrioventricular canal

[Term]
id: MONDO:0020407
name: complete atrioventricular canal-ventricle hypoplasia syndrome
subset: gard_rare {source="GARD:16893", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99067"}
subset: rare
synonym: "CAVC type B" EXACT [Orphanet:99067]
synonym: "CAVC-ventricle hypoplasia syndrome" EXACT [Orphanet:99067]
synonym: "complete atrioventricular canal type B" EXACT [Orphanet:99067]
xref: GARD:16893 {source="MONDO:GARD"}
xref: ICD10CM:Q21.2 {source="Orphanet:99067/attributed", source="Orphanet:99067/ntbt", source="Orphanet:99067"}
xref: MEDGEN:1842918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99067 {source="MONDO:equivalentTo"}
xref: UMLS:C5680290 {source="MEDGEN:1842918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015273 {source="Orphanet:99067"} ! complete atrioventricular canal

[Term]
id: MONDO:0020408
name: complete atrioventricular canal-tetralogy of fallot syndrome
subset: gard_rare {source="GARD:16894", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99068"}
subset: rare
synonym: "CAVC type C" EXACT [Orphanet:99068]
synonym: "CAVC-Fallot tetralogy syndrome" EXACT [Orphanet:99068]
synonym: "complete atrioventricular canal type C" EXACT [Orphanet:99068]
xref: GARD:16894 {source="MONDO:GARD"}
xref: ICD10CM:Q21.2 {source="Orphanet:99068/attributed", source="Orphanet:99068/ntbt", source="Orphanet:99068"}
xref: MEDGEN:768726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99068 {source="MONDO:equivalentTo"}
xref: UMLS:C3640086 {source="MEDGEN:768726", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015273 {source="Orphanet:99068"} ! complete atrioventricular canal

[Term]
id: MONDO:0020409
name: univentricular heart with single atrio-ventricular valve
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: ICD10CM:Q20.4 {source="Orphanet:99069/ntbt", source="Orphanet:99069"}
xref: Orphanet:99069 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0015451 {source="Orphanet:99069"} ! univentricular heart

[Term]
id: MONDO:0020410
name: aorto-right ventricular tunnel
subset: gard_rare {source="GARD:19632", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99070"}
subset: rare
xref: GARD:19632 {source="MONDO:GARD"}
xref: ICD10CM:Q20.8 {source="Orphanet:99070/ntbt", source="Orphanet:99070"}
xref: MEDGEN:576720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99070 {source="MONDO:equivalentTo"}
xref: UMLS:C0345055 {source="MONDO:equivalentTo", source="MEDGEN:576720", source="MONDO:MEDGEN"}
is_a: MONDO:0018082 {source="Orphanet:99070"} ! aorto-ventricular tunnel

[Term]
id: MONDO:0020411
name: aorto-left ventricular tunnel
subset: gard_rare {source="GARD:19633", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99071"}
subset: rare
xref: GARD:19633 {source="MONDO:GARD"}
xref: ICD10CM:Q20.8 {source="Orphanet:99071", source="Orphanet:99071/ntbt"}
xref: MEDGEN:576719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99071 {source="MONDO:equivalentTo"}
xref: UMLS:C0345054 {source="MEDGEN:576719", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018082 {source="Orphanet:99071"} ! aorto-ventricular tunnel

[Term]
id: MONDO:0020412
name: congenital patent ductus arteriosus aneurysm
def: "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported." [Orphanet:99072]
subset: gard_rare {source="GARD:19634", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99072"}
subset: ordo_morphological_anomaly {source="Orphanet:99072"}
subset: orphanet_rare {source="Orphanet:99072"}
subset: rare
xref: GARD:19634 {source="MONDO:GARD"}
xref: ICD10CM:Q25.8 {source="Orphanet:99072", source="Orphanet:99072/ntbt"}
xref: MEDGEN:1646456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99072 {source="MONDO:equivalentTo"}
xref: SCTID:763316006 {source="MONDO:equivalentTo"}
xref: UMLS:C4706391 {source="MEDGEN:1646456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020413
name: encircling double aortic arch
def: "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations." [Orphanet:99075]
subset: gard_rare {source="GARD:19635", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99075"}
subset: ordo_morphological_anomaly {source="Orphanet:99075"}
subset: orphanet_rare {source="Orphanet:99075"}
subset: rare
xref: GARD:19635 {source="MONDO:GARD"}
xref: ICD10CM:Q25.4 {source="Orphanet:99075/ntbt", source="Orphanet:99075"}
xref: MEDGEN:1641325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200290 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99075 {source="MONDO:equivalentTo"}
xref: SCTID:764521002 {source="MONDO:equivalentTo"}
xref: UMLS:C4706940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641325"}
is_a: MONDO:0015236 {source="Orphanet:99075"} ! aortic arch defects

[Term]
id: MONDO:0020414
name: persistent fifth aortic arch
subset: gard_rare {source="GARD:19636", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99076"}
subset: ordo_morphological_anomaly {source="Orphanet:99076"}
subset: orphanet_rare {source="Orphanet:99076"}
subset: rare
xref: GARD:19636 {source="MONDO:GARD"}
xref: ICD10CM:Q25.4 {source="Orphanet:99076", source="Orphanet:99076/ntbt"}
xref: MEDGEN:576728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99076 {source="MONDO:equivalentTo"}
xref: UMLS:C0345066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576728"}
is_a: MONDO:0015236 {source="Orphanet:99076"} ! aortic arch defects

[Term]
id: MONDO:0020415
name: Kommerell diverticulum
def: "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture." [Orphanet:99077]
subset: gard_rare {source="GARD:19637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99077"}
subset: ordo_morphological_anomaly {source="Orphanet:99077"}
subset: orphanet_rare {source="Orphanet:99077"}
subset: rare
xref: GARD:19637 {source="MONDO:GARD"}
xref: ICD10CM:Q25.4 {source="Orphanet:99077/ntbt", source="Orphanet:99077"}
xref: MEDGEN:488820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99077 {source="MONDO:equivalentTo"}
xref: SCTID:74561007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265885 {source="MEDGEN:488820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015236 {source="Orphanet:99077"} ! aortic arch defects

[Term]
id: MONDO:0020416
name: Neuhauser anomaly
def: "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)." [Orphanet:99078]
subset: gard_rare {source="GARD:19638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99078"}
subset: ordo_morphological_anomaly {source="Orphanet:99078"}
subset: orphanet_rare {source="Orphanet:99078"}
subset: rare
xref: GARD:19638 {source="MONDO:GARD"}
xref: ICD10CM:Q25.4 {source="Orphanet:99078/ntbt", source="Orphanet:99078"}
xref: MEDGEN:1633982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99078 {source="MONDO:equivalentTo"}
xref: SCTID:766751007 {source="MONDO:equivalentTo"}
xref: UMLS:C4707820 {source="MEDGEN:1633982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015236 {source="Orphanet:99078"} ! aortic arch defects

[Term]
id: MONDO:0020417
name: right aortic arch
def: "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided." [NCIT:C103917]
subset: gard_rare {source="GARD:19640", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99081"}
subset: ordo_morphological_anomaly {source="Orphanet:99081"}
subset: orphanet_rare {source="Orphanet:99081"}
subset: rare
synonym: "right aortic arch" EXACT [MONDO:ambiguous]
synonym: "right aortic arch (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19640 {source="MONDO:GARD"}
xref: HP:0012020 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q25.4 {source="Orphanet:99081/ntbt", source="Orphanet:99081"}
xref: MedDRA:10067407 {source="Orphanet:99081", source="Orphanet:99081/e"}
xref: MEDGEN:48474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C103917 {source="MONDO:equivalentTo"}
xref: Orphanet:99081 {source="MONDO:equivalentTo"}
xref: SCTID:111321007 {source="MONDO:equivalentTo"}
xref: UMLS:C0035615 {source="MONDO:equivalentTo", source="MEDGEN:48474", source="MONDO:MEDGEN"}
is_a: MONDO:0015236 {source="Orphanet:99081"} ! aortic arch defects
property_value: IAO:0000589 "right aortic arch (disease)" xsd:string

[Term]
id: MONDO:0020418
name: dysphagia lusoria
subset: gard_rare {source="GARD:19641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99082"}
subset: ordo_morphological_anomaly {source="Orphanet:99082"}
subset: orphanet_rare {source="Orphanet:99082"}
subset: rare
xref: GARD:19641 {source="MONDO:GARD"}
xref: ICD10CM:Q25.4 {source="Orphanet:99082", source="Orphanet:99082/ntbt"}
xref: ICD9:787.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:540370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99082 {source="MONDO:equivalentTo"}
xref: SCTID:231719009 {source="MONDO:equivalentTo"}
xref: UMLS:C0267073 {source="MEDGEN:540370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015236 {source="Orphanet:99082"} ! aortic arch defects

[Term]
id: MONDO:0020419
name: pulmonary artery hypoplasia
subset: gard_rare {source="GARD:19642", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99083"}
subset: ordo_morphological_anomaly {source="Orphanet:99083"}
subset: orphanet_rare {source="Orphanet:99083"}
subset: rare
synonym: "pulmonary artery hypoplasia" EXACT [MONDO:ambiguous]
synonym: "pulmonary artery hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: GARD:19642 {source="MONDO:GARD"}
xref: HP:0004971 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q25.7 {source="Orphanet:99083", source="Orphanet:99083/ntbt"}
xref: MEDGEN:75585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99083 {source="MONDO:equivalentTo"}
xref: SCTID:54682008 {source="MONDO:equivalentTo"}
xref: UMLS:C0265910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75585"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000589 "pulmonary artery hypoplasia (disease)" xsd:string

[Term]
id: MONDO:0020420
name: pulmonary branch stenosis
def: "Narrowing of the lumen of the right or left pulmonary artery branch." [NCIT:C99144]
subset: gard_rare {source="GARD:4589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99084"}
subset: ordo_morphological_anomaly {source="Orphanet:99084"}
subset: orphanet_rare {source="Orphanet:99084"}
subset: rare
synonym: "branch pulmonary artery stenosis" EXACT [Orphanet:99084]
synonym: "peripheral pulmonary stenosis" RELATED [Orphanet:99084]
synonym: "pulmonary artery stenosis, branch (not PPS)" EXACT [NCIT:C99144]
xref: GARD:4589 {source="MONDO:GARD"}
xref: ICD10CM:Q25.6 {source="Orphanet:99084", source="Orphanet:99084/e"}
xref: MEDGEN:758898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99144 {source="MONDO:equivalentTo"}
xref: Orphanet:99084 {source="MONDO:equivalentTo"}
xref: UMLS:C3531782 {source="MEDGEN:758898", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0020292 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital anomaly of the great arteries
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020421
name: coronary artery intramyocardial course
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:99085"}
subset: rare
xref: ICD10CM:Q24.5 {source="Orphanet:99085", source="Orphanet:99085/ntbt"}
xref: MEDGEN:182684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99085 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0948355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:182684"}
is_a: MONDO:0015203 {source="https://orcid.org/0000-0002-3458-4839"} ! coronary artery congenital malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020422
name: aortopulmonary coronary arterial course
def: "Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise." [Orphanet:99086]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:99086"}
subset: rare
xref: ICD10CM:Q24.5 {source="Orphanet:99086/ntbt", source="Orphanet:99086"}
xref: MEDGEN:1668023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99086 {source="MONDO:equivalentObsolete"}
xref: UMLS:C4757971 {source="MEDGEN:1668023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015203 {source="https://orcid.org/0000-0002-3458-4839"} ! coronary artery congenital malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020423
name: stenosis or atrophy of the coronary ostium
subset: gard_rare {source="GARD:19643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99087"}
subset: ordo_morphological_anomaly {source="Orphanet:99087"}
subset: orphanet_rare {source="Orphanet:99087"}
subset: rare
synonym: "coronary ostial stenosis or atresia" EXACT [Orphanet:99087]
synonym: "stenosis or atresia of the coronary ostium" RELATED [Orphanet:99087]
xref: GARD:19643 {source="MONDO:GARD"}
xref: ICD10CM:Q24.5 {source="Orphanet:99087", source="Orphanet:99087/ntbt"}
xref: MEDGEN:1842382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99087 {source="MONDO:equivalentTo"}
xref: UMLS:C5575847 {source="MEDGEN:1842382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015203 {source="https://orcid.org/0000-0002-3458-4839"} ! coronary artery congenital malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020424
name: intramural coronary arterial course
def: "Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death." [Orphanet:99088]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_morphological_anomaly {source="Orphanet:99088"}
subset: rare
xref: ICD10CM:Q24.5 {source="Orphanet:99088/ntbt", source="Orphanet:99088"}
xref: MEDGEN:576769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99088 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0345123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576769"}
is_a: MONDO:0015203 {source="https://orcid.org/0000-0002-3458-4839"} ! coronary artery congenital malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020425
name: abnormal number of coronary ostia
subset: gard_rare {source="GARD:19644", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99089"}
subset: ordo_morphological_anomaly {source="Orphanet:99089"}
subset: orphanet_rare {source="Orphanet:99089"}
subset: rare
xref: GARD:19644 {source="MONDO:GARD"}
xref: ICD10CM:Q24.5 {source="Orphanet:99089/ntbt", source="Orphanet:99089"}
xref: MEDGEN:1676211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99089 {source="MONDO:equivalentTo"}
xref: UMLS:C5191081 {source="MEDGEN:1676211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0015203 {source="https://orcid.org/0000-0002-3458-4839"} ! coronary artery congenital malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020426
name: malposition of the coronary ostium
def: "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery." [Orphanet:99090]
subset: gard_rare {source="GARD:19645", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99090"}
subset: ordo_morphological_anomaly {source="Orphanet:99090"}
subset: orphanet_rare {source="Orphanet:99090"}
subset: rare
xref: GARD:19645 {source="MONDO:GARD"}
xref: ICD10CM:Q24.5 {source="Orphanet:99090", source="Orphanet:99090/ntbt"}
xref: MEDGEN:759190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99090 {source="MONDO:equivalentTo"}
xref: UMLS:C3532077 {source="MEDGEN:759190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015203 {source="https://orcid.org/0000-0002-3458-4839"} ! coronary artery congenital malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020427
name: Laubry-Pezzi syndrome
def: "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance." [Orphanet:99094]
subset: gard_rare {source="GARD:19646", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99094"}
subset: ordo_morphological_anomaly {source="Orphanet:99094"}
subset: orphanet_rare {source="Orphanet:99094"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ventricular septal defect with aortic insufficiency" EXACT [Orphanet:99094]
synonym: "VSD with aortic insufficiency" EXACT [Orphanet:99094]
xref: GARD:19646 {source="MONDO:GARD"}
xref: ICD10CM:Q21.0 {source="Orphanet:99094", source="Orphanet:99094/ntbt"}
xref: MEDGEN:1643612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99094 {source="MONDO:equivalentTo"}
xref: SCTID:764955006 {source="MONDO:equivalentTo"}
xref: UMLS:C4707235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643612"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0020428
name: congenital Gerbode defect
subset: gard_rare {source="GARD:19647", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99095"}
subset: ordo_morphological_anomaly {source="Orphanet:99095"}
subset: orphanet_rare {source="Orphanet:99095"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gerbode defect" EXACT [Orphanet:99095]
synonym: "left ventricular-to-right atrial communication" EXACT [Orphanet:99095]
xref: GARD:19647 {source="MONDO:GARD"}
xref: ICD10CM:Q21.0 {source="Orphanet:99095", source="Orphanet:99095/ntbt"}
xref: MEDGEN:576645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100090 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200274 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99095 {source="MONDO:equivalentTo"}
xref: SCTID:204312002 {source="MONDO:equivalentTo"}
xref: UMLS:C0344947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576645"}
is_a: MONDO:0019512 {source="Orphanet:99095"} ! congenital heart malformation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020429
name: cor triatriatum dexter
subset: gard_rare {source="GARD:12483", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99098"}
subset: ordo_morphological_anomaly {source="Orphanet:99098"}
subset: orphanet_rare {source="Orphanet:99098"}
subset: rare
synonym: "cor triatriatum dexter" EXACT [MONDO:ambiguous]
synonym: "cor triatriatum dexter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "cor triatriatum dextrum" EXACT [Orphanet:99098]
synonym: "divided right atrium" EXACT [Orphanet:99098]
xref: GARD:12483 {source="MONDO:GARD"}
xref: HP:0011566 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q24.2 {source="Orphanet:99098", source="Orphanet:99098/ntbt"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:488867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99098 {source="MONDO:equivalentTo"}
xref: SCTID:274947007 {source="MONDO:equivalentTo"}
xref: UMLS:C0344697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488867"}
is_a: MONDO:0015450 {source="Orphanet:99098"} ! triatrial heart
property_value: IAO:0000589 "cor triatriatum dexter (disease)" xsd:string

[Term]
id: MONDO:0020430
name: cor triatriatum sinister
def: "Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy." [https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister]
subset: gard_rare {source="GARD:12484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99099"}
subset: ordo_morphological_anomaly {source="Orphanet:99099"}
subset: orphanet_rare {source="Orphanet:99099"}
subset: rare
synonym: "cor triatriatum sinistrum" EXACT [Orphanet:99099]
synonym: "divided left atrium" EXACT [Orphanet:99099]
xref: GARD:12484 {source="MONDO:GARD"}
xref: ICD10CM:Q24.2 {source="Orphanet:99099/ntbt", source="Orphanet:99099"}
xref: icd11.foundation:90967508 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:99099"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:576445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99099 {source="MONDO:equivalentTo"}
xref: SCTID:253353007 {source="MONDO:equivalentTo"}
xref: UMLS:C0344712 {source="MONDO:equivalentTo", source="MEDGEN:576445", source="MONDO:MEDGEN"}
is_a: MONDO:0015450 {source="Orphanet:99099"} ! triatrial heart
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister" xsd:anyURI {source="GARD:0012484"}

[Term]
id: MONDO:0020431
name: juxtaposition of the atrial appendages
def: "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases." [Orphanet:99100]
subset: gard_rare {source="GARD:19648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99100"}
subset: ordo_morphological_anomaly {source="Orphanet:99100"}
subset: orphanet_rare {source="Orphanet:99100"}
subset: rare
synonym: "juxtaposition of the atrial auricles" EXACT [Orphanet:99100]
xref: GARD:19648 {source="MONDO:GARD"}
xref: ICD10CM:Q20.8 {source="Orphanet:99100/ntbt", source="Orphanet:99100"}
xref: MEDGEN:712843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99100 {source="MONDO:equivalentTo"}
xref: UMLS:C1290478 {source="MEDGEN:712843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020432
name: ectasia of the right atrial appendage
def: "Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress." [Orphanet:99101]
subset: gard_rare {source="GARD:19649", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99101"}
subset: ordo_morphological_anomaly {source="Orphanet:99101"}
subset: orphanet_rare {source="Orphanet:99101"}
subset: rare
synonym: "dilatation of the right atrial appendage" EXACT [Orphanet:99101]
synonym: "dilatation of the right atrial auricle" EXACT [Orphanet:99101]
synonym: "ectasia of the right atrial auricle" EXACT [Orphanet:99101]
xref: GARD:19649 {source="MONDO:GARD"}
xref: ICD10CM:Q20.8 {source="Orphanet:99101/ntbt", source="Orphanet:99101"}
xref: MEDGEN:1661316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99101 {source="MONDO:equivalentTo"}
xref: UMLS:C4749283 {source="MEDGEN:1661316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020433
name: ectasia of the left appendage
def: "Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure." [Orphanet:99102]
subset: gard_rare {source="GARD:19650", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99102"}
subset: ordo_morphological_anomaly {source="Orphanet:99102"}
subset: orphanet_rare {source="Orphanet:99102"}
subset: rare
synonym: "dilatation of the left appendage" EXACT [Orphanet:99102]
synonym: "dilatation of the left atrial appendage" EXACT [Orphanet:99102]
synonym: "dilatation of the left auricle" EXACT [Orphanet:99102]
synonym: "ectasia of the left atrial appendage" RELATED [Orphanet:99102]
synonym: "ectasia of the left auricle" EXACT [Orphanet:99102]
xref: GARD:19650 {source="MONDO:GARD"}
xref: ICD10CM:Q20.8 {source="Orphanet:99102/ntbt", source="Orphanet:99102"}
xref: MEDGEN:1656788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99102 {source="MONDO:equivalentTo"}
xref: UMLS:C4749282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1656788"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020434
name: atrial septal defect, ostium secundum type
subset: gard_rare {source="GARD:5865", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASD ostium secundum type" RELATED [GARD:0005865]
synonym: "ASD, ostium secundum type" EXACT [Orphanet:99103]
synonym: "osASD" RELATED [GARD:0005865]
synonym: "ostium secundum ASD" RELATED [GARD:0005865]
synonym: "ostium secundum atrial septal defect" RELATED [GARD:0005865]
xref: GARD:5865 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="Orphanet:99103", source="Orphanet:99103/ntbt", source="Orphanet:99103/inclusion"}
xref: icd11.foundation:1875768490 {source="Orphanet:99103", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MedDRA:10031302 {source="Orphanet:99103", source="Orphanet:99103/e"}
xref: MedDRA:10031303 {source="Orphanet:99103", source="Orphanet:99103/e"}
xref: MEDGEN:91034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200266 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99103 {source="MONDO:equivalentTo"}
xref: UMLS:C0344724 {source="MEDGEN:91034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006664 {source="Orphanet:99103"} ! atrial septal defect

[Term]
id: MONDO:0020435
name: atrial septal defect, coronary sinus type
subset: gard_rare {source="GARD:10697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99104"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASD coronary sinus" RELATED [GARD:0010697]
synonym: "ASD, coronary sinus type" EXACT [Orphanet:99104]
synonym: "atrial septal defect coronary sinus" EXACT [MONDO:0022512]
synonym: "coronary sinus atrial septal defects" RELATED [GARD:0010697]
synonym: "unroofed coronary sinus" EXACT [Orphanet:99104]
xref: GARD:10697 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="Orphanet:99104", source="Orphanet:99104/ntbt", source="Orphanet:99104/inclusion"}
xref: icd11.foundation:664625334 {source="Orphanet:99104", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:488986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99104 {source="MONDO:equivalentTo"}
xref: SCTID:40272001 {source="MONDO:equivalentTo"}
xref: UMLS:C2063331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488986"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0006664 {source="Orphanet:99104"} ! atrial septal defect
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus" xsd:anyURI {source="GARD:0010697"}

[Term]
id: MONDO:0020436
name: atrial septal defect, sinus venosus type
subset: gard_rare {source="GARD:10696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99105"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASD, sinus venosus type" EXACT [Orphanet:99105]
synonym: "atrial septal defect sinus venosus" RELATED [GARD:0010696]
synonym: "sinus venosus ASD" RELATED [GARD:0010696]
synonym: "sinus venosus atrial septal defects" RELATED [GARD:0010696]
xref: GARD:10696 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="Orphanet:99105/ntbt", source="Orphanet:99105", source="Orphanet:99105/inclusion"}
xref: icd11.foundation:1930019148 {source="Orphanet:99105", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:138011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548009 {source="Orphanet:99105", source="MONDO:equivalentTo", source="Orphanet:99105/e"}
xref: NANDO:2200267 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99105 {source="MONDO:equivalentTo"}
xref: SCTID:95268002 {source="MONDO:equivalentTo"}
xref: UMLS:C0344730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138011"}
is_a: MONDO:0006664 {source="MESH:C548009", source="Orphanet:99105"} ! atrial septal defect

[Term]
id: MONDO:0020437
name: atrial septal defect, ostium primum type
def: "Atrioventricular septal defect with communication at the atrial level only." [PMID:34304616]
subset: gard_rare {source="GARD:10695", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99106"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ASD ostium primum type" EXACT [GARD:0010695]
synonym: "ASD, ostium primum type" EXACT [Orphanet:99106]
synonym: "atrial septal defect ostium primum" EXACT [GARD:0010695]
synonym: "atrioventricular defect with atrial shunting only" EXACT [PMID:34304616]
synonym: "incomplete atrioventricular canal defect with isolated atrial component" EXACT [PMID:34304616]
synonym: "incomplete atrioventricular septal defect with isolated atrial component" EXACT [PMID:34304616]
synonym: "ostium primum ASD" EXACT [GARD:0010695]
synonym: "partial atrioventricular canal defect with isolated atrial component" EXACT [PMID:34304616]
synonym: "partial atrioventricular septal defect" EXACT [PMID:34304616]
synonym: "partial atrioventricular septal defect: ostium primum type" EXACT [PMID:34304616]
synonym: "PAVC" EXACT ABBREVIATION [PMID:34304616]
synonym: "PAVSD" EXACT ABBREVIATION []
synonym: "primum atrial septal defect" EXACT [PMID:34304616]
xref: GARD:10695 {source="MONDO:GARD"}
xref: ICD10CM:Q21.2 {source="Orphanet:99106/inclusion", source="Orphanet:99106", source="Orphanet:99106/ntbt"}
xref: icd11.foundation:1159570489 {source="Orphanet:99106", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1825952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548006 {source="Orphanet:99106", source="MONDO:equivalentObsolete", source="Orphanet:99106/e"}
xref: MESH:D006344 {xref="MONDO:equivalentTo"}
xref: Orphanet:99106 {source="MONDO:equivalentTo"}
xref: SCTID:17718000 {source="MONDO:equivalentTo"}
xref: UMLS:C5680294 {source="MEDGEN:1825952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006664 {source="MESH:C548006", source="Orphanet:99106"} ! atrial septal defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3879" xsd:anyURI

[Term]
id: MONDO:0020438
name: atrial septal aneurysm
subset: gard_rare {source="GARD:19651", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99107"}
subset: ordo_morphological_anomaly {source="Orphanet:99107"}
subset: orphanet_rare {source="Orphanet:99107"}
subset: rare
xref: GARD:19651 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="Orphanet:99107/ntbt", source="Orphanet:99107"}
xref: MEDGEN:1384602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99107 {source="MONDO:equivalentTo"}
xref: SCTID:95440004 {source="MONDO:equivalentTo"}
xref: UMLS:C4476553 {source="MEDGEN:1384602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0019512 {source="https://orcid.org/0000-0002-3458-4839"} ! congenital heart malformation
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020439
name: patent foramen ovale
def: "A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes." [NCIT:P378]
subset: inferred_rare
subset: ordo_morphological_anomaly {source="Orphanet:99108"}
subset: rare
synonym: "atrial septal defect within oval fossa" EXACT [DOID:13620]
synonym: "defect, patent or persistent, ostium secundum" EXACT [DOID:13620]
synonym: "foramen ovale patent" EXACT [DOID:13620]
synonym: "ostium secundum type atrial septal defect" EXACT [DOID:13620, ICD9CM:745.5]
synonym: "patent foramen ovale" EXACT [MONDO:ambiguous]
synonym: "patent foramen ovale (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "persistent ostium secundum" EXACT [DOID:13620]
xref: DOID:13620 {source="MONDO:equivalentTo"}
xref: HP:0001655 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q21.1 {source="Orphanet:99108/ntbt", source="Orphanet:99108", source="DOID:13620"}
xref: MedDRA:10016982 {source="Orphanet:99108", source="Orphanet:99108/e"}
xref: MEDGEN:8891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054092 {source="Orphanet:99108", source="MONDO:equivalentTo", source="Orphanet:99108/e", source="DOID:13620"}
xref: NANDO:2200266 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34619 {source="MONDO:equivalentTo", source="DOID:13620"}
xref: Orphanet:99108 {source="MONDO:equivalentObsolete"}
xref: SCTID:156912004 {source="DOID:13620"}
xref: SCTID:204317008 {source="DOID:13620"}
xref: SCTID:268316001 {source="DOID:13620"}
xref: SCTID:78902000 {source="DOID:13620"}
xref: UMLS:C0016522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8891"}
is_a: MONDO:0005453 {source="DOID:13620/inferred", source="MESH:D054092/inferred", source="MONDO:Redundant", source="NCIT:C34619"} ! congenital heart disease
is_a: MONDO:0006664 {source="DOID:13620", source="MESH:D054092"} ! atrial septal defect
property_value: IAO:0000589 "patent foramen ovale (disease)" xsd:string

[Term]
id: MONDO:0020440
name: persistent left superior vena cava connecting to the left-sided atrium
def: "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persistent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated." [Orphanet:99109]
subset: gard_rare {source="GARD:19652", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99109"}
subset: ordo_morphological_anomaly {source="Orphanet:99109"}
subset: orphanet_rare {source="Orphanet:99109"}
subset: rare
synonym: "left superior caval vein persisting to the left-sided atrium" EXACT [Orphanet:99109]
synonym: "persistent left superior caval vein connecting to the left-sided atrium" EXACT [Orphanet:99109]
synonym: "persistent left SVC connecting to the left-sided atrium" EXACT [Orphanet:99109]
xref: GARD:19652 {source="MONDO:GARD"}
xref: ICD10CM:Q26.1 {source="Orphanet:99109", source="Orphanet:99109/ntbt"}
xref: MEDGEN:1830102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99109 {source="MONDO:equivalentTo"}
xref: UMLS:C5680293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830102"}
is_a: MONDO:0019829 {source="Orphanet:99109"} ! congenital anomaly of superior vena cava

[Term]
id: MONDO:0020441
name: right superior vena cava connecting to left-sided atrium
def: "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported." [Orphanet:99110]
subset: gard_rare {source="GARD:19653", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99110"}
subset: ordo_morphological_anomaly {source="Orphanet:99110"}
subset: orphanet_rare {source="Orphanet:99110"}
subset: rare
synonym: "right superior caval vein connecting to left-sided atrium" EXACT [Orphanet:99110]
synonym: "right SVC connecting to left-sided atrium" EXACT [Orphanet:99110]
xref: GARD:19653 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:99110/ntbt", source="Orphanet:99110"}
xref: MEDGEN:576401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99110 {source="MONDO:equivalentTo"}
xref: UMLS:C0344658 {source="MONDO:equivalentTo", source="MEDGEN:576401", source="MONDO:MEDGEN"}
is_a: MONDO:0019829 {source="Orphanet:99110"} ! congenital anomaly of superior vena cava

[Term]
id: MONDO:0020442
name: left superior vena cava persisting to left-sided atrium
subset: gard_rare {source="GARD:19654", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99111"}
subset: ordo_morphological_anomaly {source="Orphanet:99111"}
subset: orphanet_rare {source="Orphanet:99111"}
subset: rare
synonym: "left superior caval vein persisting to left-sided atrium" EXACT [Orphanet:99111]
synonym: "left SVC persisting to left-sided atrium" EXACT [Orphanet:99111]
xref: GARD:19654 {source="MONDO:GARD"}
xref: ICD10CM:Q26.1 {source="Orphanet:99111/ntbt", source="Orphanet:99111"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1843013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99111 {source="MONDO:equivalentTo"}
xref: SCTID:445436005 {source="MONDO:equivalentTo"}
xref: UMLS:C5680292 {source="MEDGEN:1843013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019829 {source="Orphanet:99111"} ! congenital anomaly of superior vena cava

[Term]
id: MONDO:0020443
name: absence of innominate vein
def: "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases." [Orphanet:99112]
subset: gard_rare {source="GARD:19655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99112"}
subset: ordo_morphological_anomaly {source="Orphanet:99112"}
subset: orphanet_rare {source="Orphanet:99112"}
subset: rare
synonym: "absence of brachiocephalic vein" EXACT [Orphanet:99112]
xref: GARD:19655 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:99112/ntbt", source="Orphanet:99112"}
xref: MEDGEN:1640707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99112 {source="MONDO:equivalentTo"}
xref: UMLS:C4707656 {source="MONDO:equivalentTo", source="MEDGEN:1640707", source="MONDO:MEDGEN"}
is_a: MONDO:0019829 {source="Orphanet:99112"} ! congenital anomaly of superior vena cava

[Term]
id: MONDO:0020444
name: subaortic course of innominate vein
def: "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated." [Orphanet:99113]
subset: gard_rare {source="GARD:19656", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99113"}
subset: ordo_morphological_anomaly {source="Orphanet:99113"}
subset: orphanet_rare {source="Orphanet:99113"}
subset: rare
synonym: "subaortic course of brachiocephalic vein" EXACT [Orphanet:99113]
xref: GARD:19656 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:99113/ntbt", source="Orphanet:99113"}
xref: MEDGEN:1637333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99113 {source="MONDO:equivalentTo"}
xref: SCTID:766756002 {source="MONDO:equivalentTo"}
xref: UMLS:C4707821 {source="MEDGEN:1637333", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019829 {source="Orphanet:99113"} ! congenital anomaly of superior vena cava

[Term]
id: MONDO:0020445
name: agenesis of the superior vena cava
def: "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome." [Orphanet:99114]
subset: gard_rare {source="GARD:19657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99114"}
subset: ordo_morphological_anomaly {source="Orphanet:99114"}
subset: orphanet_rare {source="Orphanet:99114"}
subset: rare
synonym: "absence of the superior caval vein" EXACT [Orphanet:99114]
synonym: "absence of the superior vena cava" EXACT [Orphanet:99114]
synonym: "absence of the SVC" EXACT [Orphanet:99114]
synonym: "agenesis of the superior caval vein" EXACT [Orphanet:99114]
synonym: "agenesis of the SVC" EXACT [Orphanet:99114]
xref: GARD:19657 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:99114", source="Orphanet:99114/ntbt"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99114 {source="MONDO:equivalentTo"}
xref: SCTID:204464007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265929 {source="MONDO:equivalentTo", source="MEDGEN:539590", source="MONDO:MEDGEN"}
is_a: MONDO:0019829 {source="Orphanet:99114"} ! congenital anomaly of superior vena cava

[Term]
id: MONDO:0020446
name: coronary sinus stenosis
subset: gard_rare {source="GARD:19658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99117"}
subset: ordo_morphological_anomaly {source="Orphanet:99117"}
subset: orphanet_rare {source="Orphanet:99117"}
subset: rare
xref: GARD:19658 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="Orphanet:99117", source="Orphanet:99117/ntbt"}
xref: MEDGEN:576420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99117 {source="MONDO:equivalentTo"}
xref: UMLS:C0344684 {source="MEDGEN:576420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020447
name: coronary sinus atresia
subset: gard_rare {source="GARD:19659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99118"}
subset: ordo_morphological_anomaly {source="Orphanet:99118"}
subset: orphanet_rare {source="Orphanet:99118"}
subset: rare
xref: GARD:19659 {source="MONDO:GARD"}
xref: ICD10CM:Q21.1 {source="Orphanet:99118/ntbt", source="Orphanet:99118"}
xref: MEDGEN:576419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99118 {source="MONDO:equivalentTo"}
xref: UMLS:C0344683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576419"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0020448
name: right inferior vena cava connecting to left-sided atrium
subset: gard_rare {source="GARD:19660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99119"}
subset: ordo_morphological_anomaly {source="Orphanet:99119"}
subset: orphanet_rare {source="Orphanet:99119"}
subset: rare
synonym: "right inferior caval vein connecting to left-sided atrium" EXACT [Orphanet:99119]
synonym: "right IVC connecting to left-sided atrium" EXACT [Orphanet:99119]
xref: GARD:19660 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:99119/ntbt", source="Orphanet:99119"}
xref: MEDGEN:756739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99119 {source="MONDO:equivalentTo"}
xref: UMLS:C3164330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:756739"}
is_a: MONDO:0019830 {source="Orphanet:99119"} ! congenital anomaly of the inferior vena cava

[Term]
id: MONDO:0020449
name: persistent eustachian valve
subset: gard_rare {source="GARD:19661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99120"}
subset: ordo_morphological_anomaly {source="Orphanet:99120"}
subset: orphanet_rare {source="Orphanet:99120"}
subset: rare
xref: GARD:19661 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:99120", source="Orphanet:99120/ntbt"}
xref: MEDGEN:1678657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99120 {source="MONDO:equivalentTo"}
xref: UMLS:C5190784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678657"}
is_a: MONDO:0019830 {source="Orphanet:99120"} ! congenital anomaly of the inferior vena cava

[Term]
id: MONDO:0020450
name: azygos continuation of the inferior vena cava
subset: gard_rare {source="GARD:19662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99121"}
subset: ordo_morphological_anomaly {source="Orphanet:99121"}
subset: orphanet_rare {source="Orphanet:99121"}
subset: rare
synonym: "azygos continuation of the inferior caval vein" EXACT [Orphanet:99121]
synonym: "azygos continuation of the IVC" EXACT [Orphanet:99121]
xref: GARD:19662 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:99121/ntbt", source="Orphanet:99121"}
xref: MEDGEN:347231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99121 {source="MONDO:equivalentTo"}
xref: UMLS:C1859772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347231"}
is_a: MONDO:0019830 {source="Orphanet:99121"} ! congenital anomaly of the inferior vena cava

[Term]
id: MONDO:0020451
name: congenital stenosis of the inferior vena cava
subset: gard_rare {source="GARD:19663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99122"}
subset: ordo_morphological_anomaly {source="Orphanet:99122"}
subset: orphanet_rare {source="Orphanet:99122"}
subset: rare
synonym: "congenital stenosis of the inferior caval vein" EXACT [Orphanet:99122]
synonym: "congenital stenosis of the IVC" EXACT [Orphanet:99122]
xref: GARD:19663 {source="MONDO:GARD"}
xref: ICD10CM:Q26.0 {source="Orphanet:99122/ntbt", source="Orphanet:99122"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:539594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99122 {source="MONDO:equivalentTo"}
xref: SCTID:62335009 {source="MONDO:equivalentTo"}
xref: UMLS:C0265934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539594"}
is_a: MONDO:0019830 {source="Orphanet:99122"} ! congenital anomaly of the inferior vena cava

[Term]
id: MONDO:0020452
name: inferior vena cava interruption
subset: gard_rare {source="GARD:19664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99123"}
subset: ordo_morphological_anomaly {source="Orphanet:99123"}
subset: orphanet_rare {source="Orphanet:99123"}
subset: rare
synonym: "Inferior caval vein interruption" EXACT [Orphanet:99123]
synonym: "IVC interruption" EXACT [Orphanet:99123]
xref: GARD:19664 {source="MONDO:GARD"}
xref: ICD10CM:Q26.8 {source="Orphanet:99123/ntbt", source="Orphanet:99123"}
xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1806633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99123 {source="MONDO:equivalentTo"}
xref: SCTID:93031005 {source="MONDO:equivalentTo"}
xref: UMLS:C5680291 {source="MEDGEN:1806633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019830 {source="Orphanet:99123"} ! congenital anomaly of the inferior vena cava

[Term]
id: MONDO:0020453
name: congenital partial pulmonary venous return anomaly
def: "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea." [Orphanet:99124]
subset: gard_rare {source="GARD:19665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99124"}
subset: ordo_morphological_anomaly {source="Orphanet:99124"}
subset: orphanet_rare {source="Orphanet:99124"}
subset: rare
synonym: "Partial anomalous pulmonary Venous connection" EXACT [NCIT:C99004]
synonym: "Partial anomalous pulmonary Venous return" EXACT [NCIT:C99004]
xref: GARD:19665 {source="MONDO:GARD"}
xref: ICD10CM:Q26.3 {source="Orphanet:99124/e", source="Orphanet:99124"}
xref: icd11.foundation:1041585584 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:99124"}
xref: MEDGEN:450995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200272 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99004 {source="MONDO:equivalentTo"}
xref: Orphanet:99124 {source="MONDO:equivalentTo"}
xref: SCTID:68237008 {source="MONDO:equivalentTo"}
xref: UMLS:C0158634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450995"}
is_a: MONDO:0005453 {source="NCIT:C99004"} ! congenital heart disease
is_a: MONDO:0017705 {source="Orphanet:99124"} ! congenital pulmonary venous return anomaly

[Term]
id: MONDO:0020454
name: congenital complete agenesis of pericardium
def: "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy." [Orphanet:99129]
subset: gard_rare {source="GARD:19666", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99129"}
subset: ordo_morphological_anomaly {source="Orphanet:99129"}
subset: orphanet_rare {source="Orphanet:99129"}
subset: rare
xref: GARD:19666 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:99129/ntbt", source="Orphanet:99129"}
xref: Orphanet:99129 {source="MONDO:equivalentTo"}
is_a: MONDO:0017300 {source="Orphanet:99129"} ! congenital pericardium anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020455
name: congenital partial agenesis of pericardium
def: "Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare." [Orphanet:99130]
subset: gard_rare {source="GARD:19667", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99130"}
subset: ordo_morphological_anomaly {source="Orphanet:99130"}
subset: orphanet_rare {source="Orphanet:99130"}
subset: rare
xref: GARD:19667 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:99130/ntbt", source="Orphanet:99130"}
xref: MEDGEN:576785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99130 {source="MONDO:equivalentTo"}
xref: UMLS:C0345139 {source="MEDGEN:576785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017300 {source="Orphanet:99130"} ! congenital pericardium anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0020456
name: pleuro-pericardial cyst
def: "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." [Orphanet:99131]
subset: gard_rare {source="GARD:19668", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99131"}
subset: ordo_morphological_anomaly {source="Orphanet:99131"}
subset: orphanet_rare {source="Orphanet:99131"}
subset: rare
xref: GARD:19668 {source="MONDO:GARD"}
xref: ICD10CM:Q24.8 {source="Orphanet:99131", source="Orphanet:99131/ntbt"}
xref: MEDGEN:576787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99131 {source="MONDO:equivalentTo"}
xref: UMLS:C0345141 {source="MEDGEN:576787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017300 {source="Orphanet:99131"} ! congenital pericardium anomaly

[Term]
id: MONDO:0020457
name: 6-phosphogluconate dehydrogenase deficiency
subset: gard_rare {source="GARD:16897", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99135"}
subset: orphanet_rare {source="Orphanet:99135"}
subset: rare
xref: GARD:16897 {source="MONDO:GARD"}
xref: ICD10CM:D55.1 {source="Orphanet:99135/attributed", source="Orphanet:99135/ntbt", source="Orphanet:99135"}
xref: MEDGEN:1783871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619199 {source="MONDO:equivalentTo"}
xref: Orphanet:99135 {source="MONDO:equivalentTo"}
xref: UMLS:C5543091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783871"}
is_a: MONDO:0003664 {source="Orphanet:99135"} ! hemolytic anemia

[Term]
id: MONDO:0020458
name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction
def: "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." [Orphanet:99138]
subset: gard_rare {source="GARD:19669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99138"}
subset: orphanet_rare {source="Orphanet:99138"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosine deaminase, elevated, hemolytic anaemia due to" EXACT OMO:0003005 []
synonym: "adenosine deaminase, elevated, hemolytic anemia due to" EXACT [OMIM:102730]
xref: GARD:19669 {source="MONDO:GARD"}
xref: ICD10CM:D55.3 {source="Orphanet:99138/attributed", source="Orphanet:99138/ntbt", source="Orphanet:99138"}
xref: icd11.foundation:1200845933 {source="Orphanet:99138", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:400240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566314 {source="MONDO:equivalentTo"}
xref: OMIM:102730 {source="MONDO:equivalentObsolete"}
xref: OMIM:301083 {source="MONDO:equivalentTo"}
xref: Orphanet:99138 {source="MONDO:equivalentTo"}
xref: UMLS:C1863235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400240"}
is_a: MONDO:0019236 {source="Orphanet:99138"} ! inborn disorder of purine metabolism
intersection_of: MONDO:0003664 ! hemolytic anemia
intersection_of: disease_has_basis_in_disruption_of GO:0004000 ! adenosine deaminase activity

[Term]
id: MONDO:0020459
name: unstable hemoglobin disease
subset: gard_rare {source="GARD:19670", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99139"}
subset: orphanet_rare {source="Orphanet:99139"}
subset: rare
xref: GARD:19670 {source="MONDO:GARD"}
xref: ICD9:282.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200625 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99139 {source="MONDO:equivalentTo"}
xref: SCTID:18273004 {source="MONDO:equivalentTo"}
xref: UMLS:C0272006 {source="MEDGEN:82893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019050 {source="Orphanet:99139", source="https://orcid.org/0000-0001-5208-3432"} ! inherited hemoglobinopathy

[Term]
id: MONDO:0020460
name: acquired von willebrand syndrome
def: "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." [Orphanet:99147]
subset: gard_rare {source="GARD:5573", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99147"}
subset: orphanet_rare {source="Orphanet:99147"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired von Willebrand disease" EXACT [Orphanet:99147]
synonym: "acquired von willebrand disease" EXACT [MONDO:patterns/acquired]
synonym: "acquired von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/acquired]
synonym: "AVWS" EXACT ABBREVIATION [DOID:0111146]
synonym: "Willebrand disease, acquired" RELATED [GARD:0005573]
xref: DOID:0111146 {source="MONDO:equivalentTo"}
xref: GARD:5573 {source="MONDO:GARD"}
xref: ICD10CM:D68.4 {source="Orphanet:99147", source="Orphanet:99147/ntbt"}
xref: MedDRA:10069495 {source="Orphanet:99147", source="Orphanet:99147/e", source="DOID:0111146"}
xref: MEDGEN:543999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200899 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99147 {source="MONDO:equivalentTo", source="DOID:0111146"}
xref: PMID:28028990 {source="DOID:0111146"}
xref: SCTID:234451005 {source="MONDO:equivalentTo", source="DOID:0111146"}
xref: SCTID:60078000 {source="DOID:0111146"}
xref: UMLS:C0272362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543999"}
is_a: MONDO:0001531 {source="DOID:0111146"} ! blood coagulation disease
is_a: MONDO:0002243 ! hemorrhagic disease
intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired)
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: disease_shares_features_of MONDO:0019565 ! hereditary von Willebrand disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome" xsd:anyURI {source="GARD:0005573"}

[Term]
id: MONDO:0020461
name: epiblepharon
subset: gard_rare {source="GARD:19671", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99169"}
subset: ordo_morphological_anomaly {source="Orphanet:99169"}
subset: orphanet_rare {source="Orphanet:99169"}
subset: rare
xref: GARD:19671 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:99169", source="Orphanet:99169/index", source="Orphanet:99169/ntbt"}
xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:488856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99169 {source="MONDO:equivalentTo"}
xref: SCTID:253212001 {source="MONDO:equivalentTo"}
xref: UMLS:C0344503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488856"}
is_a: MONDO:0003382 {source="https://orcid.org/0000-0001-5208-3432"} ! eyelid disorder
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0020462
name: tarsal kink syndrome
def: "Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery." [Orphanet:99170]
subset: gard_rare {source="GARD:19672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99170"}
subset: ordo_morphological_anomaly {source="Orphanet:99170"}
subset: orphanet_rare {source="Orphanet:99170"}
subset: rare
xref: GARD:19672 {source="MONDO:GARD"}
xref: MEDGEN:724510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99170 {source="MONDO:equivalentTo"}
xref: UMLS:C1303000 {source="MEDGEN:724510", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020159 {source="Orphanet:99170"} ! congenital entropion

[Term]
id: MONDO:0020463
name: isolated congenital ectropion
def: "A congenital ectropion that is not part of a larger syndrome." [MONDO:patterns/isolated]
subset: gard_rare {source="GARD:19673", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99171"}
subset: ordo_morphological_anomaly {source="Orphanet:99171"}
subset: orphanet_rare {source="Orphanet:99171"}
subset: rare
synonym: "nonsyndromic congenital ectropion" EXACT [MONDO:patterns/isolated]
xref: GARD:19673 {source="MONDO:GARD"}
xref: ICD10CM:Q10.1 {source="Orphanet:99171", source="Orphanet:99171/specific", source="Orphanet:99171/e"}
xref: MEDGEN:1842688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99171 {source="MONDO:equivalentTo"}
xref: UMLS:C5681630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842688"}
is_a: MONDO:0020161 {source="MONDO:Redundant", source="Orphanet:99171"} ! congenital ectropion
intersection_of: MONDO:0020161 ! congenital ectropion
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0020464
name: euryblepharon
def: "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." [Orphanet:99172]
subset: gard_rare {source="GARD:19674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99172"}
subset: ordo_morphological_anomaly {source="Orphanet:99172"}
subset: orphanet_rare {source="Orphanet:99172"}
subset: rare
xref: GARD:19674 {source="MONDO:GARD"}
xref: ICD10CM:Q10.1 {source="Orphanet:99172", source="Orphanet:99172/attributed", source="Orphanet:99172/ntbt"}
xref: MEDGEN:724511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99172 {source="MONDO:equivalentTo"}
xref: SCTID:400954002 {source="MONDO:equivalentTo"}
xref: UMLS:C1303001 {source="MEDGEN:724511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020161 {source="Orphanet:99172"} ! congenital ectropion

[Term]
id: MONDO:0020465
name: congenital eyelid retraction
def: "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." [Orphanet:99176]
subset: gard_rare {source="GARD:19675", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99176"}
subset: ordo_morphological_anomaly {source="Orphanet:99176"}
subset: orphanet_rare {source="Orphanet:99176"}
subset: rare
xref: GARD:19675 {source="MONDO:GARD"}
xref: ICD10CM:Q10.3 {source="Orphanet:99176/attributed", source="Orphanet:99176/ntbt", source="Orphanet:99176"}
xref: icd11.foundation:11235593 {source="MONDO:equivalentTo", source="Orphanet:99176"}
xref: MEDGEN:894858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99176 {source="MONDO:equivalentTo"}
xref: SCTID:715769008 {source="MONDO:equivalentTo"}
xref: UMLS:C4274470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894858"}
is_a: MONDO:0003382 {source="Orphanet:99176"} ! eyelid disorder

[Term]
id: MONDO:0020466
name: monosomy X
subset: gard_rare {source="GARD:19676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:99226"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99226"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "monosomy type X" EXACT [MONDORULE:1, Orphanet:99226]
xref: GARD:19676 {source="MONDO:GARD"}
xref: ICD10CM:Q96.9 {source="Orphanet:99226/ntbt", source="Orphanet:99226", source="Orphanet:99226/index"}
xref: icd11.foundation:95979116 {source="Orphanet:99226", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:116607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36630 {source="MONDO:relatedTo", source="MONDO:otherHierarchy"}
xref: Orphanet:99226 {source="MONDO:equivalentTo"}
xref: SCTID:710008008 {source="MONDO:equivalentTo"}
xref: UMLS:C0242526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116607"}
is_a: MONDO:0019499 {source="Orphanet:99226"} ! Turner syndrome
is_a: MONDO:0020639 {source="https://orcid.org/0000-0002-4142-7153"} ! monosomy
intersection_of: MONDO:0020639 ! monosomy
intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human)

[Term]
id: MONDO:0020467
name: mosaic monosomy X
comment: Editor note: add qualifier for mosaicism
subset: gard_rare {source="GARD:19677", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:99228"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99228"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mosaic monosomy type X" EXACT [MONDORULE:1, Orphanet:99228]
synonym: "Mosaic Turner syndrome" EXACT [PMID:12516330, PMID:29159084]
synonym: "XX/XO" EXACT [PMID:12516330, PMID:29159084]
xref: GARD:19677 {source="MONDO:GARD"}
xref: ICD10CM:Q96.3 {source="Orphanet:99228/btnt", source="Orphanet:99228", source="Orphanet:99228/specific"}
xref: ICD10CM:Q96.4 {source="Orphanet:99228/btnt", source="Orphanet:99228", source="Orphanet:99228/specific"}
xref: MEDGEN:873772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99228 {source="MONDO:equivalentTo"}
xref: SCTID:710010005 {source="MONDO:equivalentTo"}
xref: UMLS:C4040907 {source="MEDGEN:873772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019499 {source="Orphanet:99228"} ! Turner syndrome
is_a: MONDO:0020639 {source="https://orcid.org/0000-0002-4142-7153"} ! monosomy
intersection_of: MONDO:0020639 ! monosomy
intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0020468
name: paternal uniparental disomy of chromosome 13
def: "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." [Orphanet:99324]
subset: gard_rare {source="GARD:19678", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99324"}
subset: ordo_malformation_syndrome {source="Orphanet:99324"}
subset: orphanet_rare {source="Orphanet:99324"}
subset: rare
synonym: "paternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:99324]
synonym: "UPD(13)pat" EXACT [Orphanet:99324]
xref: GARD:19678 {source="MONDO:GARD"}
xref: ICD10CM:Q99.8 {source="Orphanet:99324", source="Orphanet:99324/attributed", source="Orphanet:99324/ntbt"}
xref: MEDGEN:1653904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99324 {source="MONDO:equivalentTo"}
xref: UMLS:C4722326 {source="MEDGEN:1653904", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy
relationship: disease_arises_from_structure CHR:9606-chr13 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 13 (Human)

[Term]
id: MONDO:0020469
name: 48,XYYY syndrome
def: "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." [Orphanet:99329]
subset: gard_rare {source="GARD:11985", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99329"}
subset: ordo_malformation_syndrome {source="Orphanet:99329"}
subset: orphanet_rare {source="Orphanet:99329"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "48,XYYY" RELATED [GARD:0011985]
xref: GARD:11985 {source="MONDO:GARD"}
xref: ICD10CM:Q98.8 {source="Orphanet:99329", source="Orphanet:99329/attributed", source="Orphanet:99329/ntbt"}
xref: MEDGEN:1371767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99329 {source="MONDO:equivalentTo"}
xref: SCTID:733625003 {source="MONDO:equivalentTo"}
xref: UMLS:C4518082 {source="MEDGEN:1371767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0030502 {source="https://orcid.org/0000-0002-4142-7153"} ! tetrasomy
relationship: disease_arises_from_structure CHR:9606-chrY {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0020470
name: 49,XYYYY syndrome
def: "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." [Orphanet:99330]
subset: gard_rare {source="GARD:19679", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99330"}
subset: ordo_malformation_syndrome {source="Orphanet:99330"}
subset: orphanet_rare {source="Orphanet:99330"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19679 {source="MONDO:GARD"}
xref: ICD10CM:Q98.8 {source="Orphanet:99330/attributed", source="Orphanet:99330/ntbt", source="Orphanet:99330"}
xref: MEDGEN:1384259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99330 {source="MONDO:equivalentTo"}
xref: SCTID:734028007 {source="MONDO:equivalentTo"}
xref: UMLS:C4518342 {source="MEDGEN:1384259", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015161 {source="Orphanet:99330"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:99330", source="Orphanet:99330/inferred"} ! disorder of development or morphogenesis
is_a: MONDO:0700085 {source="https://orcid.org/0000-0002-4142-7153"} ! pentasomy
relationship: disease_arises_from_structure CHR:9606-chrY {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y (Human)
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare

[Term]
id: MONDO:0020471
name: obsolete pituitary adenoma
is_obsolete: true
replaced_by: MONDO:0006373

[Term]
id: MONDO:0020472
name: Turner syndrome due to structural X chromosome anomalies
subset: gard_rare {source="GARD:19681", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:99413"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99413"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19681 {source="MONDO:GARD"}
xref: ICD10CM:Q96.1 {source="Orphanet:99413/btnt", source="Orphanet:99413", source="Orphanet:99413/specific"}
xref: ICD10CM:Q96.2 {source="Orphanet:99413/btnt", source="Orphanet:99413", source="Orphanet:99413/specific"}
xref: MEDGEN:1842425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99413 {source="MONDO:equivalentTo"}
xref: UMLS:C5681631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842425"}
is_a: MONDO:0019499 {source="Orphanet:99413"} ! Turner syndrome

[Term]
id: MONDO:0020473
name: dappled diaphyseal dysplasia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:Q77.3 {source="Orphanet:99645", source="Orphanet:99645/attributed", source="Orphanet:99645/ntbt"}
xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:468529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99645 {source="MONDO:equivalentObsolete"}
xref: SCTID:389262009 {source="MONDO:equivalentTo"}
xref: UMLS:C1300227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:468529"}
is_a: MONDO:0019701 {source="Orphanet:99645"} ! chondrodysplasia punctata

[Term]
id: MONDO:0020474
name: cheirospondyloenchondromatosis
def: "Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability." [Orphanet:99647]
subset: gard_rare {source="GARD:19682", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "generalised enchondromatosis with platyspondyly" EXACT OMO:0003005 []
synonym: "generalized enchondromatosis with platyspondyly" EXACT [Orphanet:99647]
xref: GARD:19682 {source="MONDO:GARD"}
xref: MEDGEN:1390387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99647 {source="MONDO:equivalentTo"}
xref: SCTID:725104005 {source="MONDO:equivalentTo"}
xref: UMLS:C4510810 {source="MEDGEN:1390387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="Orphanet:99647"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:99647", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components

[Term]
id: MONDO:0020475
name: dermotrichic syndrome
comment: Editor note: See PMID:1456297
subset: gard_rare {source="GARD:19683", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99688"}
subset: ordo_malformation_syndrome {source="Orphanet:99688"}
subset: orphanet_rare {source="Orphanet:99688"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19683 {source="MONDO:GARD"}
xref: MEDGEN:1672480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99688 {source="MONDO:equivalentTo"}
xref: UMLS:C0795919 {source="MEDGEN:1672480", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:99688"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0020476
name: mesial temporal lobe epilepsy with hippocampal sclerosis
def: "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits." [Orphanet:99701]
subset: gard_rare {source="GARD:19684", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99701"}
subset: orphanet_rare {source="Orphanet:99701"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MTLE-HS" EXACT [Orphanet:99701]
xref: GARD:19684 {source="MONDO:GARD"}
xref: MEDGEN:1659013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200588 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99701 {source="MONDO:equivalentTo"}
xref: UMLS:C4749367 {source="MEDGEN:1659013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017704 {source="Orphanet:99701"} ! familial partial epilepsy

[Term]
id: MONDO:0020477
name: progeria-associated arthropathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: Orphanet:99706 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0005554 {source="Orphanet:99706"} ! rheumatic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020478
name: Leber plus disease
def: "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." [Orphanet:99718]
subset: gard_rare {source="GARD:8476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99718"}
subset: orphanet_rare {source="Orphanet:99718"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LHON plus disease" EXACT [Orphanet:99718]
xref: DOID:0111754 {source="MONDO:equivalentTo"}
xref: GARD:8476 {source="MONDO:GARD"}
xref: ICD10CM:H47.2 {source="MONDO:relatedTo", source="Orphanet:99718/attributed", source="Orphanet:99718/ntbt", source="Orphanet:99718"}
xref: MEDGEN:930394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99718 {source="MONDO:equivalentTo"}
xref: SCTID:719430008 {source="MONDO:equivalentTo"}
xref: UMLS:C4304725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930394"}
is_a: MONDO:0004069 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0016387 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder
relationship: excluded_subClassOf MONDO:0016333 {source="https://orcid.org/0000-0001-5208-3432"} ! familial dilated cardiomyopathy
relationship: excluded_subClassOf MONDO:0020249 {source="Orphanet:99718", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary optic neuropathy
relationship: has_characteristic SO:1000008 ! point_mutation

[Term]
id: MONDO:0020479
name: pituitary gigantism
def: "The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age." [MESH:D005877]
subset: gard_rare {source="GARD:6506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99725"}
subset: orphanet_rare {source="Orphanet:99725"}
subset: rare
synonym: "gigantism" RELATED [GARD:0006506]
synonym: "hypophyseal gigantism" EXACT [Orphanet:99725]
synonym: "infantile and juvenile forms of acromegaly" EXACT [Orphanet:99725]
xref: GARD:6506 {source="MONDO:GARD"}
xref: ICD10CM:E22.0 {source="Orphanet:99725", source="Orphanet:99725/e"}
xref: MedDRA:10018265 {source="Orphanet:99725", source="Orphanet:99725/e"}
xref: MEDGEN:6602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005877 {source="MONDO:equivalentTo", source="Orphanet:99725", source="Orphanet:99725/e"}
xref: NANDO:2100111 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200314 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C93046 {source="MONDO:equivalentTo"}
xref: Orphanet:99725 {source="MONDO:equivalentTo"}
xref: SCTID:86073008 {source="MONDO:equivalentTo"}
xref: UMLS:C0017547 {source="MEDGEN:6602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006793 {source="MESH:D005877"} ! hyperpituitarism
is_a: MONDO:0019927 {source="Orphanet:99725"} ! growth hormone-producing pituitary gland neoplasm

[Term]
id: MONDO:0020480
name: sulfite oxidase deficiency due to molybdenum cofactor deficiency
comment: Editor note: DO class is more general
subset: gard_rare {source="GARD:3705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99732"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [DOID:0111165, Orphanet:99732]
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase" RELATED [GARD:0003705]
synonym: "MOCOD" EXACT ABBREVIATION [DOID:0111165, Orphanet:99732]
synonym: "molybdenum cofactor deficiency" RELATED [OMIMPS:252150]
xref: DOID:0111165 {source="MONDO:equivalentTo"}
xref: GARD:3705 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:99732/attributed", source="Orphanet:99732/ntbt", source="Orphanet:99732", source="DOID:0111165"}
xref: MEDGEN:75652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:252150 {source="MONDO:equivalentTo", source="DOID:0111165"}
xref: Orphanet:99732 {source="MONDO:equivalentTo", source="DOID:0111165"}
xref: UMLS:C0268119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75652"}
is_a: MONDO:0004689 {source="DOID:0111165"} ! inborn metal metabolism disorder
is_a: MONDO:0019358 {source="Orphanet:99732"} ! encephalopathy due to sulfite oxidase deficiency
relationship: disease_disrupts GO:0008482 ! sulfite oxidase activity
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:252150"} ! inherited

[Term]
id: MONDO:0020481
name: myotonia fluctuans
def: "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." [Orphanet:99734]
subset: gard_rare {source="GARD:16904", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99734"}
subset: orphanet_rare {source="Orphanet:99734"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "exercise-induced delayed-onset myotonia" EXACT [Orphanet:99734]
synonym: "Fluctuating myotonia" EXACT [Orphanet:99734]
synonym: "MF" EXACT ABBREVIATION [NCIT:C122789]
xref: GARD:16904 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:99734/attributed", source="Orphanet:99734/ntbt", source="Orphanet:99734"}
xref: MEDGEN:156269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122789 {source="MONDO:equivalentTo"}
xref: Orphanet:99734 {source="MONDO:equivalentTo"}
xref: SCTID:715788001 {source="MONDO:equivalentTo"}
xref: UMLS:C0752355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:156269"}
is_a: MONDO:0018959 {source="MONDO:Redundant", source="NCIT:C122789", source="Orphanet:99734"} ! potassium-aggravated myotonia

[Term]
id: MONDO:0020482
name: myotonia permanens
def: "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)." [Orphanet:99735]
subset: gard_rare {source="GARD:16905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99735"}
subset: orphanet_rare {source="Orphanet:99735"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16905 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:99735/attributed", source="Orphanet:99735/ntbt", source="Orphanet:99735"}
xref: Orphanet:99735 {source="MONDO:equivalentTo"}
xref: SCTID:715789009 {source="MONDO:equivalentTo"}
is_a: MONDO:0018959 ! potassium-aggravated myotonia

[Term]
id: MONDO:0020483
name: acetazolamide-responsive myotonia
def: "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)." [Orphanet:99736]
subset: gard_rare {source="GARD:16906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99736"}
subset: orphanet_rare {source="Orphanet:99736"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acetazolamide-responsive congenital myotonia" EXACT [Orphanet:99736]
synonym: "ACZ-responsive congenital myotonia" EXACT [Orphanet:99736]
synonym: "ACZ-responsive myotonia" EXACT [Orphanet:99736]
synonym: "myotonia-painful contractions syndrome" EXACT [Orphanet:99736]
synonym: "painful congenital myotonia" EXACT [Orphanet:99736]
synonym: "painful myotonia" EXACT [Orphanet:99736]
xref: GARD:16906 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="Orphanet:99736", source="Orphanet:99736/attributed", source="Orphanet:99736/ntbt"}
xref: MEDGEN:902539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99736 {source="MONDO:equivalentTo"}
xref: SCTID:715793003 {source="MONDO:equivalentTo"}
xref: UMLS:C4275008 {source="MEDGEN:902539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018959 {source="MONDO:Redundant", source="Orphanet:99736"} ! potassium-aggravated myotonia
intersection_of: MONDO:0018959 ! potassium-aggravated myotonia
intersection_of: disease_responds_to CHEBI:27690 ! acetazolamide

[Term]
id: MONDO:0020484
name: obsolete rare familial disorder with hypertrophic cardiomyopathy
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:99739"}
synonym: "rare familial disorder with hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:99739]
synonym: "rare familial disorder with hypertrophic subaortic stenosis" EXACT [Orphanet:99739]
xref: GARD:19686 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:99739 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true
consider: MESH:D024741 {source="Orphanet:99739", source="Orphanet:99739/e"}

[Term]
id: MONDO:0020485
name: King-Denborough syndrome
def: "A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." [Orphanet:99741]
subset: gard_rare {source="GARD:8433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99741"}
subset: ordo_malformation_syndrome {source="Orphanet:99741"}
subset: orphanet_rare {source="Orphanet:99741"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anesthetic-induced malignant hyperpyrexia in children" RELATED [GARD:0008433]
synonym: "King Denborough syndrome" RELATED [GARD:0008433]
synonym: "Koussef-Nichols syndrome" EXACT [Orphanet:99741]
synonym: "Kousseff Nichols syndrome" RELATED [GARD:0008561]
synonym: "Noonan like contracture myopathy hyperpyrexia" RELATED [GARD:0008561, MESH:C537504]
xref: GARD:8433 {source="MONDO:GARD"}
xref: ICD10CM:G71.2 {source="Orphanet:99741", source="Orphanet:99741/attributed", source="Orphanet:99741/ntbt"}
xref: MEDGEN:327082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536883 {source="Orphanet:99741", source="MONDO:equivalentTo", source="Orphanet:99741/e"}
xref: MESH:C537504 {source="MONDO:equivalentTo"}
xref: OMIM:619542 {source="MONDO:equivalentTo"}
xref: Orphanet:99741 {source="MONDO:equivalentTo"}
xref: SCTID:764957003 {source="MONDO:equivalentTo"}
xref: UMLS:C1840365 {source="MEDGEN:327082", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder
is_a: MONDO:0015160 {source="Orphanet:99741"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0019952 {source="Orphanet:99741"} ! congenital myopathy
relationship: disease_shares_features_of MONDO:0018997 {source="MESH:C537504-modified"} ! Noonan syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="OMIM:180901"} ! RYR1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome" xsd:anyURI {source="GARD:0008561"}

[Term]
id: MONDO:0020487
name: Pontiac fever
def: "Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia." [Orphanet:99748]
subset: gard_rare {source="GARD:13588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99748"}
subset: orphanet_rare {source="Orphanet:99748"}
subset: rare
xref: DOID:0050150 {source="MONDO:equivalentTo"}
xref: GARD:13588 {source="MONDO:GARD"}
xref: ICD10CM:A48.2 {source="Orphanet:99748", source="Orphanet:99748/e"}
xref: icd11.foundation:1670562980 {source="MONDO:equivalentTo", source="Orphanet:99748", source="https://orcid.org/0000-0001-5208-3432"}
xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10054161 {source="Orphanet:99748", source="Orphanet:99748/e"}
xref: MEDGEN:575661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128335 {source="MONDO:equivalentTo"}
xref: Orphanet:99748 {source="MONDO:equivalentTo"}
xref: SCTID:240447002 {source="MONDO:equivalentTo"}
xref: UMLS:C0343528 {source="MEDGEN:575661", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="DOID:0050150/inferred", source="MONDO:Redundant", source="NCIT:C128335"} ! bacterial infectious disease
is_a: MONDO:0005823 {source="DOID:0050150", source="Orphanet:99748"} ! legionellosis

[Term]
id: MONDO:0020488
name: atypical progressive supranuclear palsy syndrome
def: "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA)." [Orphanet:99750]
subset: gard_rare {source="GARD:4507", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99750"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "atypical PSP syndrome" EXACT [Orphanet:99750]
xref: GARD:4507 {source="MONDO:GARD"}
xref: ICD10CM:G23.1 {source="Orphanet:99750/attributed", source="Orphanet:99750/ntbt", source="Orphanet:99750"}
xref: MEDGEN:1779597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537240 {source="Orphanet:99750/e", source="Orphanet:99750"}
xref: Orphanet:99750 {source="MONDO:equivalentTo"}
xref: UMLS:C5548371 {source="MEDGEN:1779597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019037 {source="Orphanet:99750"} ! progressive supranuclear palsy

[Term]
id: MONDO:0020489
name: obsolete familial hyperreninemic hypoaldosteronism type 1
subset: ordo_etiological_subtype {source="Orphanet:99763"}
subset: otar {source="MONDO:OTAR"}
synonym: "18-hydroxylase deficiency" EXACT [Orphanet:99763]
synonym: "18-oxidase deficiency" EXACT [Orphanet:99763]
synonym: "aldosterone synthase deficiency" EXACT [Orphanet:99763]
synonym: "CMO I" EXACT [Orphanet:99763]
synonym: "CMO II" EXACT [Orphanet:99763]
synonym: "corticosterone methyloxidase deficiency type I" EXACT [Orphanet:99763]
synonym: "FHHA1" EXACT ABBREVIATION [Orphanet:99763]
xref: ICD10CM:E27.4 {source="Orphanet:99763", source="Orphanet:99763/attributed", source="Orphanet:99763/ntbt"}
xref: NANDO:2200365 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:99763 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6813" xsd:anyURI
is_obsolete: true
consider: MONDO:0018541

[Term]
id: MONDO:0020490
name: mosaic trisomy 9
def: "Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9]
subset: gard_rare {source="GARD:43", source="MONDO:GARD"}
subset: nord_rare {source="NORD:966", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99776"}
subset: ordo_malformation_syndrome {source="Orphanet:99776"}
subset: orphanet_rare {source="Orphanet:99776"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Mosaic trisomy chromosome 9" RELATED [GARD:0000043]
synonym: "Mosaic trisomy type 9" EXACT [MONDORULE:1, Orphanet:99776]
synonym: "trisomy 9 mosaicism" RELATED [GARD:0000043]
xref: GARD:43 {source="MONDO:GARD"}
xref: ICD10CM:Q92.1 {source="Orphanet:99776/attributed", source="Orphanet:99776/ntbt", source="Orphanet:99776"}
xref: MEDGEN:419661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535454 {source="Orphanet:99776", source="MONDO:equivalentTo", source="Orphanet:99776/e"}
xref: NORD:966 {source="MONDO:NORD"}
xref: Orphanet:99776 {source="MONDO:equivalentTo"}
xref: SCTID:764989007 {source="MONDO:equivalentTo"}
xref: UMLS:C2930908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419661"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9" xsd:anyURI {source="GARD:0000043"}

[Term]
id: MONDO:0020491
name: subcortical band heterotopia
def: "A developmental brain abnormality characterized by atypical migration of neurons during cortical development." [NCIT:C116933]
comment: Editor note: check this hierarchy
subset: gard_rare {source="GARD:1904", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99796"}
subset: ordo_morphological_anomaly {source="Orphanet:99796"}
subset: orphanet_rare {source="Orphanet:99796"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "band heterotopia" EXACT [DOID:0111169]
synonym: "Double cortex" RELATED [GARD:0001904]
synonym: "double cortex syndrome" EXACT [DOID:0111169]
synonym: "familial band heterotopia" RELATED [GARD:0002250]
synonym: "HeCo" EXACT [DOID:0111169]
synonym: "heterotopic cortex" EXACT [DOID:0111169]
synonym: "subcortical laminar heterotopia" EXACT [DOID:0111169, Orphanet:99796]
xref: DOID:0111169 {source="MONDO:equivalentTo"}
xref: GARD:1904 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:99796", source="Orphanet:99796/attributed", source="Orphanet:99796/ntbt"}
xref: MEDGEN:336288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201070 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116933 {source="MONDO:equivalentTo", source="DOID:0111169"}
xref: Orphanet:99796 {source="MONDO:equivalentTo", source="DOID:0111169"}
xref: UMLS:C1848201 {source="MEDGEN:336288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C116933", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0002320 {source="DOID:0111169", source="MONDO:indirect"} ! congenital nervous system disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia" xsd:anyURI {source="GARD:0002250"}

[Term]
id: MONDO:0020492
name: hemimegalencephaly
def: "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy." [Orphanet:99802]
subset: gard_rare {source="GARD:2637", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1220"}
subset: ordo_disorder {source="Orphanet:99802"}
subset: ordo_malformation_syndrome {source="Orphanet:99802"}
subset: orphanet_rare {source="Orphanet:99802"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "macrencephaly" RELATED [GARD:0002637]
synonym: "unilateral megalencephaly" EXACT [Orphanet:99802]
xref: GARD:2637 {source="MONDO:GARD"}
xref: ICD10CM:Q04.5 {source="Orphanet:99802", source="Orphanet:99802/attributed", source="Orphanet:99802/ntbt"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065705 {source="MONDO:equivalentTo"}
xref: NANDO:1200563 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C177779 {source="MONDO:equivalentTo"}
xref: NORD:1220 {source="MONDO:NORD"}
xref: Orphanet:99802 {source="MONDO:equivalentTo"}
xref: SCTID:253170008 {source="MONDO:equivalentTo"}
xref: UMLS:C0431391 {source="MEDGEN:140910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100283 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly" xsd:anyURI {source="GARD:0002637"}

[Term]
id: MONDO:0020493
name: Haddad syndrome
def: "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease." [Orphanet:99803]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16909", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99803"}
subset: ordo_malformation_syndrome {source="Orphanet:99803"}
subset: orphanet_rare {source="Orphanet:99803"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital central alveolar hypoventilation-Hirschsprung disease syndrome" EXACT [Orphanet:99803]
synonym: "Haddad syndrome" EXACT CLINGEN_LABEL []
synonym: "ondine-Hirschsprung disease" EXACT [Orphanet:99803]
synonym: "ondine-Hirschsprung syndrome" EXACT [Orphanet:99803]
xref: GARD:16909 {source="MONDO:GARD"}
xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="Orphanet:99803", source="Orphanet:99803/attributed", source="Orphanet:99803/ntbt"}
xref: MEDGEN:347052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536209 {source="Orphanet:99803", source="Orphanet:99803/e"}
xref: Orphanet:99803 {source="MONDO:equivalentTo"}
xref: SCTID:719972004 {source="MONDO:equivalentTo"}
xref: UMLS:C1859049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347052"}
is_a: MONDO:0021189 {source="Orphanet:99803"} ! intestinal motility disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare

[Term]
id: MONDO:0020494
name: oculootodental syndrome
def: "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." [Orphanet:99806]
subset: gard_rare {source="GARD:16910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99806"}
subset: ordo_malformation_syndrome {source="Orphanet:99806"}
subset: orphanet_rare {source="Orphanet:99806"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OOD" EXACT ABBREVIATION [Orphanet:99806]
xref: GARD:16910 {source="MONDO:GARD"}
xref: ICD10CM:K00.2 {source="Orphanet:99806/attributed", source="Orphanet:99806/ntbt", source="Orphanet:99806"}
xref: MEDGEN:413814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99806 {source="MONDO:equivalentTo"}
xref: UMLS:C2750325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413814"}
is_a: MONDO:0016910 {source="Orphanet:99806"} ! partial deletion of the long arm of chromosome 11

[Term]
id: MONDO:0020495
name: PEHO-like syndrome
def: "PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." [Orphanet:99807]
subset: gard_rare {source="GARD:16911", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99807"}
subset: orphanet_rare {source="Orphanet:99807"}
subset: rare
synonym: "PEHO syndrome-like" EXACT [OMIM:617507, OMIM:genemap2]
synonym: "peho-like syndrome" EXACT [OMIM:617507]
synonym: "PEHOL" RELATED ABBREVIATION [OMIM:617507]
synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" EXACT [OMIM:617507]
xref: GARD:16911 {source="MONDO:GARD"}
xref: MEDGEN:337956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617507 {source="MONDO:equivalentTo"}
xref: Orphanet:99807 {source="MONDO:equivalentTo", source="OMIM:617507"}
xref: UMLS:C1850056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337956"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0009841 {source="https://orcid.org/0000-0001-5208-3432"} ! PEHO syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25523 {source="OMIM:617507"} ! CCDC88A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020496
name: familial porencephaly
def: "An instance of porencephaly that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'cardiovascular disorder' (MONDO:0004995) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0001-6718-3559)
subset: gard_rare {source="GARD:2258", source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:99810"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99810"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial porencephalic white matter disease" RELATED [GARD:0002258]
synonym: "hereditary porencephaly" EXACT [MONDO:patterns/hereditary]
xref: DOID:0112313 {source="MONDO:equivalentTo"}
xref: GARD:2258 {source="MONDO:GARD"}
xref: ICD10CM:Q04.6 {source="Orphanet:99810/inclusion", source="Orphanet:99810", source="Orphanet:99810/ntbt"}
xref: MEDGEN:401353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536850 {source="Orphanet:99810", source="Orphanet:99810/e"}
xref: OMIMPS:175780 {source="MONDO:equivalentTo"}
xref: Orphanet:99810 {source="MONDO:equivalentTo"}
xref: UMLS:C1867983 {source="MEDGEN:401353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011057 {source="https://orcid.org/0000-0002-3458-4839"} ! cerebrovascular disorder
is_a: MONDO:0017410 {source="MONDO:Redundant", source="Orphanet:99810"} ! porencephaly
intersection_of: MONDO:0017410 ! porencephaly
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:175780"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly" xsd:anyURI {source="GARD:0002258"}

[Term]
id: MONDO:0020497
name: Turcot syndrome with polyposis
def: "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." [Orphanet:99818]
subset: gard_rare {source="GARD:16912", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99818"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:16912 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:99818", source="Orphanet:99818/attributed", source="Orphanet:99818/ntbt"}
xref: MEDGEN:1826134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99818 {source="MONDO:equivalentTo"}
xref: UMLS:C5681818 {source="MEDGEN:1826134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021055 {source="Orphanet:99818"} ! classic familial adenomatous polyposis

[Term]
id: MONDO:0020498
name: obsolete Lassa fever
is_obsolete: true
replaced_by: MONDO:0005820

[Term]
id: MONDO:0020499
name: Nipah virus disease
def: "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness." [Orphanet:99825]
subset: gard_rare {source="GARD:19689", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99825"}
subset: orphanet_rare {source="Orphanet:99825"}
subset: rare
synonym: "Nipah encephalitis" EXACT [Orphanet:99825]
synonym: "Nipah fever" EXACT [Orphanet:99825]
synonym: "Nipah virus infectious disease" EXACT []
xref: DOID:0050192 {source="MONDO:equivalentTo"}
xref: GARD:19689 {source="MONDO:GARD"}
xref: ICD10CM:A98.8 {source="Orphanet:99825", source="Orphanet:99825/ntbt"}
xref: MEDGEN:728863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99825 {source="MONDO:equivalentTo"}
xref: UMLS:C1320202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:728863"}
is_a: MONDO:0005785 {source="https://orcid.org/0000-0001-5208-3432"} ! henipavirus infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:121791 ! disease has primary infectious agent
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0020067 {source="Orphanet:99825", source="https://orcid.org/0000-0001-5208-3432"} ! infectious encephalitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4714" xsd:anyURI

[Term]
id: MONDO:0020500
name: Marburg hemorrhagic fever
def: "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." [Orphanet:99826]
subset: gard_rare {source="GARD:9444", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99826"}
subset: orphanet_rare {source="Orphanet:99826"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Green monkey disease" EXACT [Orphanet:99826]
synonym: "Marburg disease" EXACT [DOID:4327]
synonym: "Marburg virus disease" EXACT [DOID:4327, Orphanet:99826]
synonym: "MHF" EXACT ABBREVIATION [Orphanet:99826]
xref: DOID:4327 {source="EFO:0007358", source="MONDO:equivalentTo"}
xref: EFO:0007358 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:9444 {source="MONDO:GARD"}
xref: ICD10CM:A98.3 {source="DOID:4327", source="Orphanet:99826", source="Orphanet:99826/e"}
xref: icd11.foundation:696598707 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99826"}
xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10026822 {source="Orphanet:99826", source="Orphanet:99826/e"}
xref: MEDGEN:9888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008379 {source="EFO:0007358", source="DOID:4327", source="MONDO:equivalentTo"}
xref: NCIT:C84883 {source="DOID:4327", source="MONDO:equivalentTo"}
xref: Orphanet:99826 {source="MONDO:equivalentTo"}
xref: SCTID:123322008 {source="DOID:4327"}
xref: SCTID:77503002 {source="DOID:4327", source="MONDO:equivalentTo"}
xref: UMLS:C0024788 {source="MEDGEN:9888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="DOID:4327", source="EFO:0007358", source="MESH:D008379/inferred", source="MONDO:Redundant", source="NCIT:C84883"} ! viral infectious disease
is_a: MONDO:0018087 {source="MESH:D008379", source="Orphanet:99826"} ! viral hemorrhagic fever
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:186537 ! disease has primary infectious agent Marburgvirus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever" xsd:anyURI {source="GARD:0009444"}

[Term]
id: MONDO:0020501
name: Crimean-Congo hemorrhagic fever
def: "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure." [Orphanet:99827]
subset: gard_rare {source="GARD:19690", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99827"}
subset: orphanet_rare {source="Orphanet:99827"}
subset: rare
synonym: "CCHF" EXACT ABBREVIATION [Orphanet:99827]
synonym: "CHF Congo virus" EXACT [DOID:12287]
synonym: "Congo fever" EXACT [Orphanet:99827]
synonym: "Congo hemorrhagic fever" EXACT [Orphanet:99827]
synonym: "Congo-Crimean hemorrhagic fever" EXACT [DOID:12287, NCIT:C34682]
synonym: "Crimean hemorrhagic fever" EXACT [Orphanet:99827]
synonym: "Crimean hemorrhagic fever [CHF Congo virus]" EXACT [DOID:12287, ICD9CM:065.0]
synonym: "Crimean-Congo haemorrhagic fever" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases]
xref: DOID:12287 {source="MONDO:equivalentTo"}
xref: GARD:19690 {source="MONDO:GARD"}
xref: ICD10CM:A98.0 {source="MONDO:equivalentTo", source="Orphanet:99827", source="DOID:12287", source="Orphanet:99827/e"}
xref: icd11.foundation:1562906700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99827"}
xref: ICD9:065.0 {source="DOID:12287"}
xref: MEDGEN:6800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006479 {source="MONDO:equivalentTo", source="DOID:12287"}
xref: NCIT:C34682 {source="MONDO:equivalentTo", source="DOID:12287"}
xref: Orphanet:99827 {source="MONDO:equivalentTo"}
xref: SCTID:402919000 {source="MONDO:equivalentTo"}
xref: SCTID:43489008 {source="DOID:12287"}
xref: UMLS:C0019099 {source="MEDGEN:6800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018087 {source="MESH:D006479", source="NCIT:C34682", source="Orphanet:99827"} ! viral hemorrhagic fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1980519
relationship: disease_has_feature HP:0000952 ! Jaundice
relationship: disease_has_feature HP:0000967 ! Petechiae
relationship: disease_has_feature HP:0002829 ! Arthralgia
relationship: disease_has_feature HP:0003418 ! Back pain
relationship: disease_has_infectious_agent NCBITaxon:1980519
relationship: transmitted_by NCBITaxon:34625 ! Hyalomma

[Term]
id: MONDO:0020502
name: yellow fever
def: "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure." [Orphanet:99829]
subset: gard_rare {source="GARD:7914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1873"}
subset: ordo_disorder {source="Orphanet:99829"}
subset: orphanet_rare {source="Orphanet:99829"}
subset: rare
synonym: "bronze John" EXACT [Orphanet:99829]
synonym: "jungle yellow fever" EXACT [DOID:9682]
synonym: "sylvatic yellow fever" EXACT [DOID:9682, ICD9CM:060.0]
synonym: "urban yellow fever" EXACT [DOID:9682]
synonym: "Yellow fever virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Yellow fever virus disease or disorder" EXACT []
synonym: "Yellow fever Virus infection" EXACT [NCIT:C35547]
synonym: "Yellow fever virus infectious disease" EXACT []
synonym: "Yellow fever, sylvan" EXACT [DOID:9682]
synonym: "Yellow Jack" EXACT [Orphanet:99829]
synonym: "YF" EXACT ABBREVIATION [Orphanet:99829]
xref: DOID:9682 {source="MONDO:equivalentTo"}
xref: GARD:7914 {source="MONDO:GARD"}
xref: ICD10CM:A95 {source="DOID:9682"}
xref: ICD10CM:A95.0 {source="Orphanet:99829", source="Orphanet:99829/btnt"}
xref: ICD10CM:A95.1 {source="Orphanet:99829", source="Orphanet:99829/btnt"}
xref: ICD10CM:A95.9 {source="Orphanet:99829", source="DOID:9682", source="Orphanet:99829/btnt"}
xref: icd11.foundation:383352795 {source="MONDO:equivalentTo", source="Orphanet:99829"}
xref: ICD9:060 {source="DOID:9682"}
xref: ICD9:060.9 {source="DOID:9682"}
xref: MedDRA:10048240 {source="Orphanet:99829/e", source="Orphanet:99829"}
xref: MEDGEN:53112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015004 {source="Orphanet:99829/e", source="MONDO:equivalentTo", source="Orphanet:99829", source="DOID:9682"}
xref: NCIT:C35547 {source="MONDO:equivalentTo", source="DOID:9682"}
xref: NORD:1873 {source="MONDO:NORD"}
xref: Orphanet:99829 {source="MONDO:equivalentTo"}
xref: SCTID:154345006 {source="DOID:9682"}
xref: SCTID:16541001 {source="DOID:9682"}
xref: SCTID:186587002 {source="DOID:9682"}
xref: SCTID:187411002 {source="DOID:9682"}
xref: SCTID:266194002 {source="DOID:9682"}
xref: UMLS:C0043395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:53112"}
is_a: MONDO:0005108 {source="DOID:9682", source="MESH:D015004/inferred", source="MONDO:Redundant", source="NCIT:C35547"} ! viral infectious disease
is_a: MONDO:0018093 {source="Orphanet:99829"} ! arbovirus fever
is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11089 ! disease has primary infectious agent Yellow fever virus
relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting
relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache
relationship: disease_has_infectious_agent NCBITaxon:11089 {source="MONDO:Wikidata"} ! Yellow fever virus
relationship: transmitted_by NCBITaxon:53551 ! Sabethes
relationship: transmitted_by NCBITaxon:7180 ! Haemagogus <genus>
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7914/yellow-fever" xsd:anyURI {source="GARD:0007914"}

[Term]
id: MONDO:0020503
name: obsolete resistance to thyrotropin-releasing hormone syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5106" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0032819

[Term]
id: MONDO:0020504
name: hereditary recurrent myoglobinuria
def: "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." [https://orcid.org/0000-0001-5208-3432, Orphanet:99845]
subset: gard_rare {source="GARD:16916", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99845"}
subset: orphanet_rare {source="Orphanet:99845"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic recurrent myoglobinuria" EXACT [Orphanet:99845]
xref: GARD:16916 {source="MONDO:GARD"}
xref: ICD10CM:R82.1 {source="Orphanet:99845/attributed", source="Orphanet:99845/ntbt", source="MONDO:relatedTo", source="Orphanet:99845"}
xref: MEDGEN:901659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99845 {source="MONDO:equivalentTo"}
xref: SCTID:716721003 {source="MONDO:equivalentTo"}
xref: UMLS:C4274324 {source="MEDGEN:901659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism
relationship: excluded_subClassOf MONDO:0016117 {source="Orphanet:99845", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular lipidosis
relationship: excluded_subClassOf MONDO:0018120 {source="Orphanet:99845", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

[Term]
id: MONDO:0020505
name: ravine syndrome
def: "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." [Orphanet:99852]
subset: gard_rare {source="GARD:3231", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99852"}
subset: orphanet_rare {source="Orphanet:99852"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "progressive encephalopathy with severe infantile anorexia" EXACT [Orphanet:99852]
synonym: "Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome" EXACT [Orphanet:99852]
xref: GARD:3231 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:99852", source="Orphanet:99852/attributed", source="Orphanet:99852/ntbt"}
xref: MEDGEN:907744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99852 {source="MONDO:equivalentTo"}
xref: SCTID:715794009 {source="MONDO:equivalentTo"}
xref: UMLS:C4275006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907744"}
is_a: MONDO:0019046 {source="Orphanet:99852"} ! leukodystrophy

[Term]
id: MONDO:0020506
name: obsolete ovarioleukodystrophy
subset: ordo_subtype_of_a_disorder {source="Orphanet:99853"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:16918 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E75.2 {source="Orphanet:99853/attributed", source="Orphanet:99853/ntbt", source="Orphanet:99853"}
xref: Orphanet:99853 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020507
name: leukoencephalopathy with vanishing white matter 1
def: "Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16919", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99854"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CACH" EXACT ABBREVIATION [OMIM:603896]
synonym: "childhood ataxia with central nervous system hypomyelinization" EXACT [OMIM:603896]
synonym: "Cree leukoencephalopathy" RELATED [Orphanet:99854]
synonym: "vanishing white matter leukodystrophy" EXACT [OMIM:603896]
xref: DOID:0070374 {source="MONDO:equivalentTo"}
xref: GARD:16919 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:99854", source="Orphanet:99854/attributed", source="Orphanet:99854/ntbt"}
xref: MEDGEN:1830482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603896 {source="MONDO:equivalentTo"}
xref: Orphanet:99854 {source="MONDO:equivalentTo"}
xref: UMLS:C5779972 {source="MEDGEN:1830482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800448 {source="OMIM:603896", source="Orphanet:99854"} ! leukoencephalopathy with vanishing white matter
intersection_of: MONDO:0800448 ! leukoencephalopathy with vanishing white matter
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3257 ! EIF2B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6216" xsd:anyURI

[Term]
id: MONDO:0020508
name: primary syringomyelia
subset: gard_rare {source="GARD:19691", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99856"}
subset: ordo_morphological_anomaly {source="Orphanet:99856"}
subset: orphanet_rare {source="Orphanet:99856"}
subset: rare
synonym: "congenital syringomyelia" EXACT [Orphanet:99856]
xref: GARD:19691 {source="MONDO:GARD"}
xref: ICD10CM:Q06.4 {source="Orphanet:99856/attributed", source="Orphanet:99856/ntbt", source="Orphanet:99856"}
xref: MEDGEN:721465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99856 {source="MONDO:equivalentTo"}
xref: SCTID:371076006 {source="MONDO:equivalentTo"}
xref: UMLS:C1299627 {source="MEDGEN:721465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017987 {source="Orphanet:99856"} ! syringomyelia
relationship: excluded_subClassOf MONDO:0017085 {source="Orphanet:99856", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformation of the neurenteric canal, spinal cord and column

[Term]
id: MONDO:0020509
name: secondary syringomyelia
def: "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings." [Orphanet:99857]
subset: gard_rare {source="GARD:19692", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99857"}
subset: orphanet_rare {source="Orphanet:99857"}
subset: rare
xref: GARD:19692 {source="MONDO:GARD"}
xref: ICD10CM:G95.0 {source="Orphanet:99857", source="Orphanet:99857/ntbt"}
xref: MEDGEN:1649806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99857 {source="MONDO:equivalentTo"}
xref: UMLS:C4749399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1649806"}
is_a: MONDO:0017987 {source="Orphanet:99857"} ! syringomyelia

[Term]
id: MONDO:0020510
name: idiopathic syringomyelia
def: "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." [Orphanet:99858]
subset: gard_rare {source="GARD:19693", source="MONDO:GARD"}
subset: mondo_rare {source="https://orcid.org/0000-0002-6195-6976"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99858"}
subset: rare
xref: GARD:19693 {source="MONDO:GARD"}
xref: ICD10CM:G95.0 {source="Orphanet:99858", source="Orphanet:99858/attributed", source="Orphanet:99858/ntbt"}
xref: icd11.foundation:1218010255 {source="MONDO:equivalentTo", source="Orphanet:99858"}
xref: MEDGEN:1378771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99858 {source="MONDO:equivalentTo"}
xref: SCTID:725001004 {source="MONDO:equivalentTo"}
xref: UMLS:C4511700 {source="MEDGEN:1378771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020508 {source="Orphanet:99858"} ! primary syringomyelia
intersection_of: MONDO:0020508 ! primary syringomyelia
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
relationship: has_characteristic MONDO:0021136 {source="https://orcid.org/0000-0002-6195-6976"} ! rare

[Term]
id: MONDO:0020511
name: precursor B-cell acute lymphoblastic leukemia
def: "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" [NCIT:C8644]
subset: gard_rare {source="GARD:16920", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99860"}
subset: orphanet_rare {source="Orphanet:99860"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute B cell lymphocytic leukaemia" BROAD OMO:0003005 []
synonym: "acute B cell lymphocytic leukemia" BROAD [NCIT:C8644]
synonym: "acute B-cell lymphocytic leukaemia" BROAD OMO:0003005 []
synonym: "acute B-cell lymphocytic leukemia" BROAD [NCIT:C8644]
synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 []
synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C8644]
synonym: "B cell acute lymphocytic leukaemia" BROAD OMO:0003005 []
synonym: "B cell acute lymphocytic leukemia" BROAD [NCIT:C8644]
synonym: "B cell precursor type acute leukaemia" EXACT OMO:0003005 []
synonym: "B cell precursor type acute leukemia" EXACT [NCIT:C8644]
synonym: "B-ALL" BROAD [Orphanet:99860]
synonym: "B-cell acute lymphoblastic leukaemia" BROAD OMO:0003005 []
synonym: "B-cell acute lymphoblastic leukemia" BROAD [NCIT:C8644]
synonym: "B-cell acute lymphocytic leukaemia" BROAD OMO:0003005 []
synonym: "B-cell acute lymphocytic leukemia" BROAD [NCIT:C8644]
synonym: "B-cell lymphoblastic leukaemia" BROAD OMO:0003005 []
synonym: "B-cell lymphoblastic leukemia" BROAD [NCIT:C8644]
synonym: "B-cell precursor type acute leukaemia" EXACT OMO:0003005 []
synonym: "B-cell precursor type acute leukemia" EXACT [NCIT:C8644]
synonym: "B-cell type acute leukaemia" BROAD OMO:0003005 []
synonym: "B-cell type acute leukemia" BROAD [NCIT:C8644]
synonym: "B-precursor ALL" EXACT [NCIT:C8644]
synonym: "precursor B-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99860]
synonym: "precursor B-cell acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "precursor B-cell acute lymphocytic leukemia" EXACT [Orphanet:99860]
synonym: "precursor B-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99860]
synonym: "precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "precursor B-lymphoblastic leukaemia (B-precursor ALL)" EXACT OMO:0003005 []
synonym: "precursor B-lymphoblastic leukemia" EXACT [NCIT:C8644]
synonym: "precursor B-lymphoblastic leukemia (B-precursor ALL)" EXACT [NCIT:C8644]
xref: DOID:0080638 {source="MONDO:equivalentTo"}
xref: GARD:16920 {source="MONDO:GARD"}
xref: ICD10CM:C83.5 {source="Orphanet:99860/ntbt", source="Orphanet:99860"}
xref: ICD10CM:C91.0 {source="Orphanet:99860/ntbt", source="Orphanet:99860"}
xref: icd11.foundation:1099674056 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99860"}
xref: ICDO:9836/3 {source="NCIT:C8644"}
xref: MEDGEN:83896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200001 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200022 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C8644 {source="MONDO:equivalentTo"}
xref: Orphanet:99860 {source="MONDO:equivalentTo"}
xref: UMLS:C0349636 {source="MEDGEN:83896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004967 {source="NCIT:C8644", source="Orphanet:99860"} ! acute lymphoblastic leukemia
is_a: MONDO:0017595 {source="Orphanet:99860"} ! aggressive B-cell non-Hodgkin lymphoma
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020512
name: precursor T-cell acute lymphoblastic leukemia
subset: gard_rare {source="GARD:19694", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99861"}
subset: orphanet_rare {source="Orphanet:99861"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "precursor T-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99861]
synonym: "precursor T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 []
synonym: "precursor T-cell acute lymphocytic leukemia" EXACT [Orphanet:99861]
synonym: "precursor T-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99861]
synonym: "T-ALL" BROAD [Orphanet:99861]
xref: EFO:1001830 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19694 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="Orphanet:99861/ntbt", source="Orphanet:99861"}
xref: icd11.foundation:803161771 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99861"}
xref: Orphanet:99861 {source="MONDO:equivalentTo"}
is_a: MONDO:0004967 {source="Orphanet:99861"} ! acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020513
name: spermatocytic seminoma
def: "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males." [NCIT:C39921]
subset: gard_rare {source="GARD:16921", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99865"}
subset: orphanet_rare {source="Orphanet:99865"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spermatocytic seminoma" EXACT [NCIT:C39921]
synonym: "spermatocytoma" RELATED [DOID:5834]
synonym: "testicular spermatocytic seminoma" EXACT [MONDO:0004388, NCIT:C39921]
xref: DOID:5834 {source="MONDO:equivalentTo"}
xref: DOID:7891 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: GARD:16921 {source="MONDO:GARD"}
xref: ICD10CM:C62.9 {source="Orphanet:99865", source="Orphanet:99865/ntbt"}
xref: ICDO:9063/3 {source="NCIT:C39921"}
xref: MEDGEN:83159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39921 {source="DOID:5834", source="MONDO:equivalentTo"}
xref: Orphanet:99865 {source="MONDO:equivalentTo"}
xref: SCTID:9294008 {source="DOID:5834"}
xref: UMLS:C0334517 {source="MEDGEN:83159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003669 {source="DOID:7891", source="NCIT:C39921"} ! testicular seminoma
relationship: excluded_subClassOf MONDO:0003667 {source="DOID:7891", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete spermatocytoma

[Term]
id: MONDO:0020514
name: obsolete thymoma
is_obsolete: true
replaced_by: MONDO:0006456

[Term]
id: MONDO:0020515
name: obsolete thymic carcinoma
is_obsolete: true
replaced_by: MONDO:0006451

[Term]
id: MONDO:0020516
name: thymic neuroendocrine carcinoma
def: "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation." [Orphanet:99869]
subset: gard_rare {source="GARD:19696", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99869"}
subset: orphanet_rare {source="Orphanet:99869"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuroendocrine carcinoma of thymus" EXACT []
synonym: "thymic neuroendocrine carcinoma" EXACT []
synonym: "thymus neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: GARD:19696 {source="MONDO:GARD"}
xref: ICD10CM:C37 {source="Orphanet:99869", source="Orphanet:99869/ntbt"}
xref: icd11.foundation:381956131 {source="MONDO:equivalentTo", source="Orphanet:99869", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:900590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C171031 {source="MONDO:equivalentTo"}
xref: Orphanet:99869 {source="MONDO:equivalentTo"}
xref: SCTID:716653001 {source="MONDO:equivalentTo"}
xref: UMLS:C2210965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900590"}
is_a: MONDO:0018079 {source="Orphanet:99869"} ! thymic epithelial neoplasm
intersection_of: MONDO:0002120 ! neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0020517
name: eosinophilic granuloma
def: "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." [NCIT:P378]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chronic and localised Langerhans cell histiocytosis" EXACT OMO:0003005 []
synonym: "chronic and localized Langerhans cell histiocytosis" EXACT [Orphanet:99871]
synonym: "chronic unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016]
synonym: "eosinophilic granuloma" EXACT [NCIT:C3016]
synonym: "eosinophilic xanthomatous granuloma" EXACT [NCIT:C3016]
synonym: "Monostotic Langerhans cell histiocytosis" EXACT [NCIT:C3016]
synonym: "unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016]
xref: ICD10CM:C96.6 {source="Orphanet:99871/ntbt", source="Orphanet:99871"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9752/1 {source="NCIT:C3016"}
xref: MedDRA:10014956 {source="Orphanet:99871/e", source="Orphanet:99871"}
xref: MEDGEN:4979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004803 {source="Orphanet:99871/e", source="MONDO:equivalentTo", source="Orphanet:99871"}
xref: NCIT:C3016 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:99871 {source="MONDO:equivalentObsolete"}
xref: SCTID:129000002 {source="MONDO:equivalentTo"}
xref: UMLS:C0014461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4979"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163"} ! respiratory system disorder
is_a: MONDO:0018310 {source="NCIT:C3016", source="NCIT:C3016/inferred", source="Orphanet:99871"} ! Langerhans cell histiocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0020518
name: Hashimoto-Pritzker syndrome
def: "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules)." [Orphanet:99872]
subset: gard_rare {source="GARD:2604", source="MONDO:GARD"}
subset: rare
synonym: "congenital Langerhans cell histiocytosis" EXACT [Orphanet:99872]
synonym: "Hashimoto-Pritzker disease" RELATED [GARD:0002604]
synonym: "Hashimoto-Pritzker histiocytosis" RELATED [GARD:0002604]
xref: GARD:2604 {source="MONDO:GARD"}
xref: ICD10CM:C96.5 {source="Orphanet:99872/ntbt", source="Orphanet:99872"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:775638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535843 {source="Orphanet:99872/e", source="MONDO:equivalentTo", source="Orphanet:99872"}
xref: Orphanet:99872 {source="MONDO:equivalentObsolete"}
xref: SCTID:404160007 {source="MONDO:equivalentTo"}
xref: UMLS:C3661439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:775638"}
is_a: MONDO:0017025 {source="Orphanet:99872"} ! Langerhans cell histiocytosis specific to childhood
is_a: MONDO:0018310 {source="MONDO:0020518/inferred", source="Orphanet:99872"} ! Langerhans cell histiocytosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome" xsd:anyURI {source="GARD:0002604"}

[Term]
id: MONDO:0020519
name: hand-Schuller-Christian disease
def: "A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions." [NCIT:C6920]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'https://github.com/monarch-initiative/mondo/issues/6754' (MONDO:0005087) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:6567", source="MONDO:GARD"}
subset: rare
synonym: "chronic multifocal Langerhans cell histiocytosis" EXACT [Orphanet:99873]
synonym: "classic multifocal Langerhans cell histiocytosis" EXACT [NCIT:C6920]
synonym: "hand-Schuller-Christian disease" EXACT [NCIT:C6920]
synonym: "hand-SChüller-Christian disease" EXACT [NCIT:C6920, Orphanet:99873]
synonym: "multifocal eosinophilic granuloma" EXACT [Orphanet:99873]
synonym: "multifocal Unisystem Langerhans cell histiocytosis" EXACT [NCIT:C6920]
xref: GARD:6567 {source="MONDO:GARD"}
xref: ICD10CM:C96.5 {source="Orphanet:99873", source="Orphanet:99873/ntbt"}
xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9753/1 {source="NCIT:C6920"}
xref: MEDGEN:1804593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6920 {source="MONDO:equivalentTo"}
xref: Orphanet:99873 {source="MONDO:equivalentObsolete"}
xref: SCTID:39795003 {source="MONDO:equivalentTo"}
xref: UMLS:C5574737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804593"}
is_a: MONDO:0018310 {source="NCIT:C6920", source="NCIT:C6920/inferred", source="Orphanet:99873"} ! Langerhans cell histiocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0020520
name: adult pulmonary Langerhans cell histiocytosis
def: "Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions." [Orphanet:99874]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PLCH" EXACT ABBREVIATION [NCIT:C142833]
synonym: "pulmonary eosinophilic granuloma" EXACT [NCIT:C142833]
synonym: "pulmonary histiocytosis X" EXACT [NCIT:C142833, Orphanet:99874]
synonym: "pulmonary Langerhans cell histiocytosis" EXACT [NCIT:C142833]
xref: ICD10CM:C96.5 {source="Orphanet:99874", source="Orphanet:99874/ntbt"}
xref: ICD10CM:J84.82 {source="MONDO:equivalentTo"}
xref: MEDGEN:853967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C142833 {source="MONDO:equivalentTo"}
xref: Orphanet:99874 {source="MONDO:equivalentObsolete"}
xref: SCTID:328611000119105 {source="MONDO:equivalentTo"}
xref: UMLS:C3161104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:853967"}
is_a: MONDO:0017029 {source="Orphanet:99874"} ! Langerhans cell histiocytosis specific to adulthood
is_a: MONDO:0018310 {source="MONDO:0020520/inferred", source="NCIT:C142833/inferred", source="Orphanet:99874"} ! Langerhans cell histiocytosis
is_a: MONDO:0020517 {source="NCIT:C142833"} ! eosinophilic granuloma
is_a: MONDO:0021117 {source="NCIT:C142833"} ! lung neoplasm

[Term]
id: MONDO:0020521
name: Ehlers-Danlos syndrome type 7A
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:99875"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDS VIIA" EXACT [Orphanet:99875]
xref: ICD10CM:Q79.6 {source="Orphanet:99875/attributed", source="Orphanet:99875/ntbt", source="Orphanet:99875"}
xref: MEDGEN:854083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99875 {source="MONDO:equivalentObsolete"}
xref: UMLS:C3508773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854083"}
is_a: MONDO:0007525 {source="Orphanet:99875"} ! Ehlers-Danlos syndrome, arthrochalasia type

[Term]
id: MONDO:0020522
name: Ehlers-Danlos syndrome type 7B
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_etiological_subtype {source="Orphanet:99876"}
subset: rare
synonym: "EDS VIIB" EXACT [GTR:AN1112965, Orphanet:99876]
synonym: "EDSARTH2" RELATED ABBREVIATION [GTR:AN1112967]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED [GTR:AN1112503]
synonym: "Ehlers-Danlos syndrome, type VIIB, autosomal dominant" RELATED [GTR:AN1112966]
xref: GTR:AN1112503
xref: GTR:AN1112965
xref: GTR:AN1112966
xref: GTR:AN1112967
xref: ICD10CM:Q79.6 {source="Orphanet:99876", source="Orphanet:99876/attributed", source="Orphanet:99876/ntbt"}
xref: MEDGEN:342092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565061 {source="MONDO:equivalentTo"}
xref: Orphanet:99876 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1851801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342092"}
is_a: MONDO:0007525 {source="Orphanet:99876"} ! Ehlers-Danlos syndrome, arthrochalasia type

[Term]
id: MONDO:0020523
name: familial parathyroid adenoma
def: "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: otar {source="MONDO:OTAR"}
synonym: "hereditary parathyroid gland adenoma" EXACT [MONDO:patterns/hereditary]
xref: ICD10CM:E21.0 {source="Orphanet:99877/attributed", source="Orphanet:99877/ntbt", source="Orphanet:99877"}
xref: MEDGEN:374460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564166 {source="Orphanet:99877", source="Orphanet:99877/e"}
xref: Orphanet:99877 {source="MONDO:equivalentObsolete"}
xref: UMLS:C1840403 {source="MEDGEN:374460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0006890 ! parathyroid gland adenoma
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0020524
name: obsolete primary parathyroid hyperplasia
subset: otar {source="MONDO:OTAR"}
synonym: "familial parathyroids hyperplasia" EXACT [Orphanet:99878]
synonym: "hereditary parathyroids hyperplasia" RELATED [Orphanet:99878]
xref: ICD10CM:E21.0 {source="Orphanet:99878/attributed", source="Orphanet:99878/ntbt", source="Orphanet:99878"}
xref: Orphanet:99878 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020525
name: transient neonatal diabetes mellitus
def: "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." [Orphanet:99886]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 6-associated transient diabetes mellitus" RELATED [GARD:0001839]
synonym: "diabetes mellitus, 6q24-related transient neonatal" RELATED [GARD:0001839]
synonym: "diabetes mellitus, transient neonatal" RELATED [GARD:0001839]
synonym: "TNDM" EXACT ABBREVIATION [Orphanet:99886]
synonym: "transient neonatal diabetes mellitus" EXACT [MONDO:ambiguous]
synonym: "transient neonatal diabetes mellitus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0060334 {source="MONDO:equivalentTo"}
xref: HP:0008255 {source="MONDO:otherHierarchy"}
xref: ICD10CM:P70.2 {source="Orphanet:99886/attributed", source="Orphanet:99886/ntbt", source="Orphanet:99886", source="DOID:0060334"}
xref: MEDGEN:449530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114899 {source="MONDO:equivalentTo"}
xref: Orphanet:99886 {source="DOID:0060334"}
xref: SCTID:237603002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:449530"}
is_a: MONDO:0016391 {source="DOID:0060334", source="MONDO:Redundant", source="NCIT:C114899", source="Orphanet:99886"} ! neonatal diabetes mellitus
intersection_of: MONDO:0016391 ! neonatal diabetes mellitus
intersection_of: has_characteristic HP:0025153 ! Transient
property_value: IAO:0000589 "transient neonatal diabetes mellitus (disease)" xsd:string

[Term]
id: MONDO:0020526
name: acute megakaryoblastic leukemia in down syndrome
subset: gard_rare {source="GARD:19697", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99887"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DS-AMKL" EXACT [Orphanet:99887]
xref: GARD:19697 {source="MONDO:GARD"}
xref: ICD10CM:C94.2 {source="Orphanet:99887", source="Orphanet:99887/ntbt"}
xref: Orphanet:99887 {source="MONDO:equivalentTo"}
is_a: MONDO:0018872 {source="Orphanet:99887"} ! acute megakaryoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020527
name: ectopic Cushing syndrome
def: "Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor." [Orphanet:99889]
subset: gard_rare {source="GARD:19698", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99889"}
subset: orphanet_rare {source="Orphanet:99889"}
subset: rare
synonym: "adrenocorticotropic hormone secretion syndrome" EXACT [Orphanet:99889]
synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [DOID:0060890]
synonym: "ectopic ACTH secreting tumor" EXACT [DOID:0060890, Orphanet:99889]
synonym: "ectopic ACTH secreting tumour" EXACT OMO:0003005 []
synonym: "ectopic Cushing syndrome" EXACT [Orphanet:99889]
synonym: "occult ectopic ACTH secretion" EXACT [Orphanet:99889]
synonym: "paraneoplastic Cushing syndrome" EXACT [Orphanet:99889]
xref: DOID:0060890 {source="MONDO:equivalentTo"}
xref: GARD:19698 {source="MONDO:GARD"}
xref: ICD10CM:E24.3 {source="DOID:0060890", source="Orphanet:99889/ntbt", source="Orphanet:99889"}
xref: icd11.foundation:1646144829 {source="Orphanet:99889", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: Orphanet:99889 {source="DOID:0060890", source="MONDO:equivalentTo"}
is_a: MONDO:0020528 {source="Orphanet:99889"} ! ACTH-dependent Cushing syndrome

[Term]
id: MONDO:0020528
name: ACTH-dependent Cushing syndrome
def: "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." [Orphanet:99892]
subset: disease_grouping
subset: gard_rare {source="GARD:19699", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:99892"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTH hypersecretion, pituitary" RELATED [MESH:D047748]
synonym: "ACTH-dependent CS" EXACT [Orphanet:99892]
synonym: "adrenocorticotropic hormone, inappropriate secretion" RELATED [MESH:D047748]
synonym: "adrenocorticotropic hormone-dependent Cushing syndrome" EXACT [Orphanet:99892]
synonym: "corticotropin-dependent Cushing syndrome" EXACT [Orphanet:99892]
synonym: "overproduction of ACTH" EXACT [DOID:3946]
synonym: "pituitary Cushing disease" RELATED [MESH:D047748]
synonym: "pituitary Cushing diseases" RELATED [MESH:D047748]
synonym: "pituitary Cushing syndrome" RELATED [MESH:D047748]
synonym: "pituitary-dependent Cushing disease" EXACT [DOID:3946]
synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"}
xref: EFO:1001110 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19699 {source="MONDO:GARD"}
xref: ICD10CM:E24.0 {source="EFO:1001110", source="MONDO:equivalentTo", source="Orphanet:99892/ntbt", source="DOID:3946", source="Orphanet:99892", source="MONDO:directSiblingOf"}
xref: MedDRA:10035109 {source="EFO:1001110"}
xref: MEDGEN:575036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D047748 {source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946"}
xref: NCIT:C113210 {source="MONDO:relatedTo", source="DOID:3946"}
xref: Orphanet:99892 {source="MONDO:equivalentTo"}
xref: SCTID:190502001 {source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946"}
xref: SCTID:237734007 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:9545009 {source="DOID:3946"}
xref: UMLS:C0342442 {source="MEDGEN:575036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006793 {source="DOID:3946", source="MESH:D047748"} ! hyperpituitarism
is_a: MONDO:0018912 {source="EFO:1001110", source="ICD10CM:E24.0", source="MONDO:Redundant", source="Orphanet:99892"} ! Cushing syndrome
intersection_of: MONDO:0018912 ! Cushing syndrome
intersection_of: disease_has_basis_in_disruption_of GO:0051458 ! corticotropin secretion
disjoint_from: MONDO:0020529 ! ACTH-independent Cushing syndrome
relationship: disease_has_feature HP:0011043 ! Abnormal circulating adrenocorticotropin concentration
relationship: excluded_subClassOf MONDO:0018387 {source="Orphanet:99892", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare male infertility due to adrenal disorder
relationship: excluded_subClassOf MONDO:0018400 {source="Orphanet:99892", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare female infertility due to an adrenal disorder

[Term]
id: MONDO:0020529
name: ACTH-independent Cushing syndrome
def: "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC)." [Orphanet:99893]
subset: disease_grouping
subset: gard_rare {source="GARD:19700", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:647758"}
subset: rare
synonym: "adrenal Cushing syndrome" EXACT [Orphanet:99893]
synonym: "adrenocorticotropic hormone-independent Cushing syndrome" EXACT [Orphanet:99893]
synonym: "corticotropin-independent Cushing syndrome" EXACT [Orphanet:99893]
xref: GARD:19700 {source="MONDO:GARD"}
xref: ICD10CM:E24.8 {source="Orphanet:99893/ntbt", source="Orphanet:99893"}
xref: Orphanet:647758 {source="MONDO:equivalentTo"}
xref: Orphanet:99893 {source="MONDO:equivalentTo"}
is_a: MONDO:0018912 {source="Orphanet:99893"} ! Cushing syndrome
relationship: excluded_subClassOf MONDO:0018387 {source="Orphanet:99893", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare male infertility due to adrenal disorder
relationship: excluded_subClassOf MONDO:0018400 {source="Orphanet:99893", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare female infertility due to an adrenal disorder

[Term]
id: MONDO:0020530
name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
def: "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." [Orphanet:99898]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99898"}
subset: orphanet_rare {source="Orphanet:99898"}
subset: predisposition
subset: rare
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1" EXACT []
synonym: "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "IFNGR1 deficiency" RELATED [GARD:0003011]
synonym: "interferon gamma, receptor 1, deficiency" RELATED [GARD:0003011]
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898]
synonym: "MSMD due to complete IFNgammaR1 deficiency" EXACT [Orphanet:99898]
synonym: "MSMD due to complete interferon gamma receptor 1 deficiency" EXACT [Orphanet:99898]
xref: ICD10CM:D84.8 {source="Orphanet:99898", source="Orphanet:99898/attributed", source="Orphanet:99898/ntbt"}
xref: MESH:C535530 {source="Orphanet:99898", source="MONDO:equivalentTo", source="Orphanet:99898/e"}
xref: Orphanet:99898 {source="MONDO:equivalentTo"}
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases

[Term]
id: MONDO:0020531
name: long chain acyl-CoA dehydrogenase deficiency
def: "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy." [NCIT:C84537]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACADL deficiency" RELATED [GARD:0009700]
synonym: "acyl-CoA dehydrogenase, long-chain deficiency" EXACT [NCIT:C84537]
synonym: "inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn long-chain-acyl-CoA dehydrogenase activity disorder" EXACT []
synonym: "LCAD" EXACT ABBREVIATION [Orphanet:99900]
synonym: "LCAD deficiency" RELATED [GARD:0009700]
synonym: "long chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL []
synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84537]
synonym: "long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84537]
synonym: "rare inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic]
xref: ICD10CM:E71.3 {source="Orphanet:99900/attributed", source="Orphanet:99900/ntbt", source="Orphanet:99900"}
xref: MEDGEN:65087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535690 {source="Orphanet:99900", source="MONDO:equivalentTo", source="Orphanet:99900/e"}
xref: NCIT:C84537 {source="MONDO:equivalentTo"}
xref: Orphanet:99900 {source="MONDO:equivalentObsolete"}
xref: SCTID:237996001 {source="MONDO:equivalentTo"}
xref: UMLS:C0220711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65087"}
is_a: MONDO:0005045 ! hypertrophic cardiomyopathy
is_a: MONDO:0005267 ! heart disorder
is_a: MONDO:0017713 ! disorder of fatty acid oxidation and ketogenesis
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0004466 ! long-chain fatty acyl-CoA dehydrogenase activity

[Term]
id: MONDO:0020532
name: spirillary rat-bite fever
def: "Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia." [Orphanet:99903]
subset: gard_rare {source="GARD:19701", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:99903"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99903"}
subset: rare
synonym: "sodoku" EXACT [https://www.britannica.com/science/rat-bite-fever, Orphanet:99903]
synonym: "sodoku disease" EXACT [MONDO:0001432]
synonym: "Spirillary fever" EXACT [DOID:12096, ICD9CM:026.0]
synonym: "spirillosis" RELATED [DOID:12096]
xref: DOID:12096 {source="MONDO:equivalentTo"}
xref: GARD:19701 {source="MONDO:GARD"}
xref: ICD10CM:A25.0 {source="DOID:12096", source="Orphanet:99903", source="Orphanet:99903/e"}
xref: icd11.foundation:1104357482 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99903"}
xref: ICD9:026.0 {source="DOID:12096", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011906 {source="DOID:12096"}
xref: Orphanet:99903 {source="MONDO:equivalentTo"}
xref: SCTID:19044004 {source="DOID:12096", source="MONDO:equivalentTo"}
xref: UMLS:C0152062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57745"}
is_a: MONDO:0000314 {source="DOID:12096", source="MONDO:Entailed", source="MONDO:Redundant"} ! primary bacterial infectious disease
is_a: MONDO:0006941 {source="MONDO:Redundant", source="Orphanet:99903"} ! rat-bite fever
intersection_of: MONDO:0000314 ! primary bacterial infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:967 ! Spirillum
relationship: transmitted_by NCBITaxon:10114 ! Rattus

[Term]
id: MONDO:0020533
name: streptobacillary rat-bite fever
def: "Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats." [Orphanet:99905]
subset: gard_rare {source="GARD:19702", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:99905"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99905"}
subset: rare
synonym: "Haverhill fever" EXACT [DOID:13238]
synonym: "Streptobacillary fever" EXACT [DOID:13238, ICD9CM:026.1]
synonym: "streptobacillary rat-bite fever" EXACT [DOID:13238]
synonym: "Streptobacillosis" RELATED [DOID:13238]
xref: DOID:13238 {source="MONDO:equivalentTo"}
xref: GARD:19702 {source="MONDO:GARD"}
xref: ICD10CM:A25.1 {source="DOID:13238", source="Orphanet:99905/e", source="Orphanet:99905"}
xref: icd11.foundation:614000128 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99905"}
xref: ICD9:026.1 {source="DOID:13238", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:508864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99905 {source="MONDO:equivalentTo"}
xref: SCTID:52138004 {source="DOID:13238", source="MONDO:equivalentTo"}
xref: UMLS:C0152063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508864"}
is_a: MONDO:0000314 {source="DOID:13238", source="MONDO:Redundant", source="MONDO:indirect"} ! primary bacterial infectious disease
is_a: MONDO:0006941 {source="MONDO:Redundant", source="Orphanet:99905"} ! rat-bite fever
intersection_of: MONDO:0000314 ! primary bacterial infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:34105 ! Streptobacillus moniliformis
relationship: transmitted_by NCBITaxon:10114 ! Rattus

[Term]
id: MONDO:0020534
name: obsolete farmer's lung
is_obsolete: true
replaced_by: MONDO:0001971

[Term]
id: MONDO:0020535
name: house allergic alveolitis
def: "House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis." [Orphanet:99907]
subset: gard_rare {source="GARD:19703", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99907"}
subset: orphanet_rare {source="Orphanet:99907"}
subset: rare
xref: GARD:19703 {source="MONDO:GARD"}
xref: ICD10CM:J67.8 {source="Orphanet:99907/ntbt", source="Orphanet:99907"}
xref: MEDGEN:1387737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99907 {source="MONDO:equivalentTo"}
xref: SCTID:725415009 {source="MONDO:equivalentTo"}
xref: UMLS:C4511048 {source="MEDGEN:1387737", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017853 {source="Orphanet:99907"} ! hypersensitivity pneumonitis

[Term]
id: MONDO:0020536
name: obsolete pigeon-breeder lung disease
comment: This term is too granulalr and was merged with bird fancier's lung.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/385" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005668

[Term]
id: MONDO:0020537
name: obsolete occupational allergic alveolitis
def: "OBSOLETE. Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise" [Orphanet:99909]
subset: ordo_group_of_disorders {source="Orphanet:99909"}
xref: GARD:19704 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:99909 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6693" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020538
name: malignant dysgerminomatous germ cell tumor of ovary
def: "Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality." [Orphanet:99912]
subset: gard_rare {source="GARD:19705", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99912"}
subset: orphanet_rare {source="Orphanet:99912"}
subset: rare
synonym: "dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:99912]
synonym: "dysgerminomatous germ cell cancer of the ovary" EXACT [Orphanet:99912]
synonym: "malignant dysgerminomatous germ cell tumor of the ovary" RELATED [Orphanet:99912]
synonym: "malignant dysgerminomatous germ cell tumour of the ovary" RELATED OMO:0003005 []
synonym: "malignant ovarian dysgerminoma" EXACT [Orphanet:99912]
xref: GARD:19705 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:99912", source="Orphanet:99912/ntbt"}
xref: icd11.foundation:208782658 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99912"}
xref: Orphanet:99912 {source="MONDO:equivalentTo"}
is_a: MONDO:0018171 {source="Orphanet:99912"} ! malignant germ cell tumor of ovary

[Term]
id: MONDO:0020539
name: extragonadal non-dysgerminomatous germ cell tumor
subset: disease_grouping
subset: gard_rare {source="GARD:19706", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:99913"}
subset: rare
xref: GARD:19706 {source="MONDO:GARD"}
xref: MEDGEN:1843056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99913 {source="MONDO:equivalentTo"}
xref: UMLS:C5681817 {source="MEDGEN:1843056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018201 {source="MONDO:Redundant", source="Orphanet:99913"} ! extragonadal germ cell tumor
is_a: MONDO:0021656 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! nongerminomatous germ cell tumor
intersection_of: MONDO:0018201 ! extragonadal germ cell tumor
intersection_of: MONDO:0021656 ! nongerminomatous germ cell tumor

[Term]
id: MONDO:0020540
name: ovarian gynandroblastoma
def: "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." [NCIT:C3072]
subset: gard_rare {source="GARD:9665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99914"}
subset: orphanet_rare {source="Orphanet:99914"}
subset: rare
synonym: "Gynandroblastoma" RELATED [GARD:0009665]
synonym: "Gynandroblastoma of ovary" EXACT [NCIT:C3072]
synonym: "Gynandroblastoma of the ovary" EXACT [NCIT:C3072]
xref: GARD:9665 {source="MONDO:GARD"}
xref: ICD10CM:D39.1 {source="Orphanet:99914", source="Orphanet:99914/btnt"}
xref: ICD10CM:D40.1 {source="Orphanet:99914", source="Orphanet:99914/btnt"}
xref: ICDO:8632/1 {source="NCIT:C3072"}
xref: MEDGEN:83412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538459 {source="MONDO:equivalentTo"}
xref: NCIT:C3072 {source="MONDO:equivalentTo"}
xref: Orphanet:99914 {source="MONDO:equivalentTo"}
xref: SCTID:254867003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346178 {source="MEDGEN:83412", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021657 {source="NCIT:C3072/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! ovarian sex cord-stromal tumor
relationship: excluded_subClassOf MONDO:0018172 {source="Orphanet:99914", source="https://orcid.org/0000-0001-5208-3432"} ! malignant sex cord stromal tumor of ovary
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma" xsd:anyURI {source="GARD:0009665"}

[Term]
id: MONDO:0020541
name: maligant granulosa cell tumor of ovary
def: "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites." [NCIT:C8403]
subset: gard_rare {source="GARD:19707", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99915"}
subset: orphanet_rare {source="Orphanet:99915"}
subset: rare
synonym: "adult granulosa cell tumor of the ovary" RELATED [GARD:0008642]
synonym: "adult granulosa cell tumour of the ovary" RELATED OMO:0003005 []
synonym: "adult ovarian granulosa cell tumor" EXACT [MONDO:design_pattern]
synonym: "adult ovarian granulosa cell tumour" EXACT OMO:0003005 []
synonym: "cancer of granulosa cell" EXACT [MONDO:patterns/cancer]
synonym: "GCT of the ovary" RELATED [GARD:0008642]
synonym: "granulosa cell cancer" EXACT [MONDO:patterns/location, Orphanet:99915]
synonym: "granulosa cell malignant tumor" EXACT [Orphanet:99915]
synonym: "granulosa cell malignant tumour" EXACT OMO:0003005 []
synonym: "granulosa theca cell tumor" RELATED [GARD:0008642]
synonym: "granulosa theca cell tumor of the ovary" RELATED [GARD:0008642]
synonym: "granulosa theca cell tumour" RELATED OMO:0003005 []
synonym: "granulosa theca cell tumour of the ovary" RELATED OMO:0003005 []
synonym: "GTCT" RELATED ABBREVIATION [GARD:0008642]
synonym: "Maligant granulosa cell tumor of the ovary" RELATED [Orphanet:99915]
synonym: "Maligant granulosa cell tumour of the ovary" RELATED OMO:0003005 []
synonym: "malignant granulosa cell neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant granulosa cell neoplasm of ovary" EXACT [NCIT:C8403]
synonym: "malignant granulosa cell neoplasm of the ovary" EXACT [NCIT:C8403]
synonym: "malignant granulosa cell tumor of ovary" EXACT [NCIT:C8403]
synonym: "malignant granulosa cell tumor of the ovary" EXACT [NCIT:C8403]
synonym: "malignant granulosa cell tumour of ovary" EXACT OMO:0003005 []
synonym: "malignant granulosa cell tumour of the ovary" EXACT OMO:0003005 []
synonym: "malignant ovarian granulosa cell neoplasm" EXACT [NCIT:C8403]
synonym: "malignant ovarian granulosa cell tumor" EXACT [NCIT:C8403]
synonym: "malignant ovarian granulosa cell tumour" EXACT OMO:0003005 []
synonym: "ovarian granulosa cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "ovarian granulosa cell tumour of adults" EXACT OMO:0003005 []
xref: GARD:19707 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:99915", source="Orphanet:99915/ntbt"}
xref: icd11.foundation:148207042 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99915"}
xref: MEDGEN:138043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006106 {source="Orphanet:99915", source="Orphanet:99915/e"}
xref: NCIT:C8403 {source="MONDO:equivalentTo"}
xref: Orphanet:99915 {source="MONDO:equivalentTo"}
xref: SCTID:254861002 {source="MONDO:equivalentTo"}
xref: UMLS:C0346175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138043"}
is_a: MONDO:0006036 {source="MONDO:Redundant", source="NCIT:C8403/inferred"} ! granulosa cell tumor
is_a: MONDO:0018172 {source="MONDO:Entailed", source="NCIT:C8403", source="Orphanet:99915"} ! malignant sex cord stromal tumor of ovary
is_a: MONDO:0023283 {source="MONDO:Redundant", source="NCIT:C8403"} ! ovarian granulosa cell tumor
intersection_of: MONDO:0023283 ! ovarian granulosa cell tumor
intersection_of: has_characteristic HP:0003581 ! Adult onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8642/granulosa-cell-tumor-of-the-ovary" xsd:anyURI {source="GARD:0008642"}

[Term]
id: MONDO:0020542
name: malignant Sertoli-Leydig cell tumor of ovary
def: "Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occurring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional." [Orphanet:99916]
subset: gard_rare {source="GARD:5495", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99916"}
subset: orphanet_rare {source="Orphanet:99916"}
subset: rare
synonym: "Androblastoma" EXACT [Orphanet:99916]
synonym: "Arrhenoblastoma" EXACT [Orphanet:99916]
synonym: "malignant ovarian Sertoli-Leydig cell tumor" EXACT []
synonym: "malignant ovarian sertoli-Leydig cell tumor" RELATED []
synonym: "malignant ovarian Sertoli-Leydig cell tumour" EXACT OMO:0003005 []
synonym: "malignant ovarian sertoli-Leydig cell tumour" RELATED OMO:0003005 []
synonym: "malignant Sertoli-Leydig cell tumor of the ovary" RELATED [Orphanet:99916]
synonym: "malignant Sertoli-Leydig cell tumour of the ovary" RELATED OMO:0003005 []
synonym: "ovarian malignant Sertoli-Leydig cell tumor" EXACT [Orphanet:99916]
synonym: "ovarian malignant Sertoli-Leydig cell tumour" EXACT OMO:0003005 []
synonym: "ovarian Sertoli-Leydig cell cancer" EXACT [Orphanet:99916]
synonym: "ovarian Sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "ovarian sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "virilizing ovarian tumor" EXACT [Orphanet:99916]
synonym: "virilizing ovarian tumour" EXACT OMO:0003005 []
xref: GARD:5495 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:99916/ntbt", source="Orphanet:99916"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1825991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99916 {source="MONDO:equivalentTo"}
xref: SCTID:237795006 {source="MONDO:equivalentTo"}
xref: UMLS:C5574973 {source="MEDGEN:1825991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018172 {source="MONDO:Redundant", source="Orphanet:99916"} ! malignant sex cord stromal tumor of ovary
intersection_of: MONDO:0036595 ! ovarian Sertoli-Leydig cell tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0020543
name: theca steroid-producing cell malignant tumor of ovary, not further specified
def: "Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome." [Orphanet:99917]
comment: Editor note: TODO
subset: gard_rare {source="GARD:19708", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99917"}
subset: orphanet_rare {source="Orphanet:99917"}
subset: rare
synonym: "theca (steroid-producing) cell cancer, not further specified" EXACT [Orphanet:99917]
xref: GARD:19708 {source="MONDO:GARD"}
xref: ICD10CM:C56 {source="Orphanet:99917", source="Orphanet:99917/ntbt"}
xref: MEDGEN:904268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99917 {source="MONDO:equivalentTo"}
xref: UMLS:C4274494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904268"}
is_a: MONDO:0018172 {source="Orphanet:99917"} ! malignant sex cord stromal tumor of ovary

[Term]
id: MONDO:0020544
name: streptococcal toxic-shock syndrome
def: "Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection." [Orphanet:99918]
subset: gard_rare {source="GARD:19709", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:99918"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99918"}
subset: rare
synonym: "streptococcal TSS" EXACT [Orphanet:99918]
synonym: "Streptococcus caused toxic shock syndrome" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus toxic shock syndrome" EXACT []
xref: GARD:19709 {source="MONDO:GARD"}
xref: ICD10CM:A48.3 {source="Orphanet:99918/ntbt", source="Orphanet:99918"}
xref: icd11.foundation:197163558 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99918"}
xref: MedDRA:10044251 {source="Orphanet:99918/e", source="Orphanet:99918"}
xref: MEDGEN:575664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99918 {source="MONDO:equivalentTo"}
xref: SCTID:240451000 {source="MONDO:equivalentTo"}
xref: UMLS:C0343532 {source="MONDO:equivalentTo", source="MEDGEN:575664", source="MONDO:MEDGEN"}
is_a: MONDO:0001881 {source="MONDO:Redundant", source="Orphanet:99918"} ! toxic shock syndrome
intersection_of: MONDO:0001881 ! toxic shock syndrome
intersection_of: disease_has_infectious_agent NCBITaxon:1301 ! Streptococcus

[Term]
id: MONDO:0020545
name: staphylococcal toxic-shock syndrome
def: "Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection." [Orphanet:99919]
subset: gard_rare {source="GARD:19710", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype {source="Orphanet:99919"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99919"}
subset: rare
synonym: "staphylococcal TSS" EXACT [Orphanet:99919]
synonym: "Staphylococcus caused toxic shock syndrome" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Staphylococcus toxic shock syndrome" EXACT []
xref: GARD:19710 {source="MONDO:GARD"}
xref: ICD10CM:A48.3 {source="Orphanet:99919/ntbt", source="Orphanet:99919"}
xref: icd11.foundation:788554020 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99919"}
xref: ICD9:040.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10044250 {source="Orphanet:99919/e", source="Orphanet:99919"}
xref: MEDGEN:811401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99919 {source="MONDO:equivalentTo"}
xref: SCTID:240450004 {source="MONDO:equivalentTo"}
xref: UMLS:C3714602 {source="MEDGEN:811401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001881 {source="MONDO:Redundant", source="Orphanet:99919"} ! toxic shock syndrome
is_a: MONDO:0017592 {source="Orphanet:99919"} ! staphylococcal toxemia
intersection_of: MONDO:0001881 ! toxic shock syndrome
intersection_of: disease_has_infectious_agent NCBITaxon:1279 ! Staphylococcus

[Term]
id: MONDO:0020546
name: acute graft versus host disease
def: "A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation." [NCIT:C4980]
subset: gard_rare {source="GARD:6544", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99920"}
subset: rare
synonym: "acute graft vs. host disease" EXACT [MONDO:0005410]
synonym: "acute GVHD" RELATED [GARD:0006544]
synonym: "fulminant graft versus host disease" EXACT [NCIT:C4980]
synonym: "graft versus host disease, acute" EXACT [MONDO:patterns/acute]
synonym: "GVHD, acute" EXACT [NCIT:C4980]
xref: GARD:6544 {source="MONDO:GARD"}
xref: ICD10CM:D89.810 {source="MONDO:equivalentTo"}
xref: ICD10CM:T86.0 {source="Orphanet:99920", source="Orphanet:99920/ntbt"}
xref: icd11.foundation:83784921 {source="Orphanet:99920", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:279.51 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10066260 {source="Orphanet:99920", source="Orphanet:99920/e"}
xref: MEDGEN:208987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4980 {source="MONDO:equivalentTo"}
xref: Orphanet:99920 {source="MONDO:equivalentTo"}
xref: SCTID:402355000 {source="MONDO:equivalentTo"}
xref: UMLS:C0856825 {source="MEDGEN:208987", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="EFO:0004599", source="MONDO:Redundant", source="MONDO:indirect"} ! immune system disorder
is_a: MONDO:0013730 {source="MONDO:Redundant", source="NCIT:C4980", source="Orphanet:99920"} ! graft versus host disease
intersection_of: MONDO:0013730 ! graft versus host disease
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5146" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease" xsd:anyURI {source="GARD:0006544"}

[Term]
id: MONDO:0020547
name: chronic graft versus host disease
def: "Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications." [https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease]
subset: gard_rare {source="GARD:10964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99921"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic GVHD" RELATED [GARD:0010964]
synonym: "graft versus host disease, chronic" EXACT [MONDO:patterns/chronic]
synonym: "GVHD, chronic" EXACT [NCIT:C4981]
xref: GARD:10964 {source="MONDO:GARD"}
xref: ICD10CM:D89.811 {source="MONDO:equivalentTo"}
xref: ICD10CM:T86.0 {source="Orphanet:99921/ntbt", source="Orphanet:99921"}
xref: icd11.foundation:621183043 {source="Orphanet:99921", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: ICD9:279.52 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10066261 {source="Orphanet:99921", source="Orphanet:99921/e"}
xref: MEDGEN:167851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006086 {source="Orphanet:99921", source="Orphanet:99921/e"}
xref: NANDO:2100213 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200812 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4981 {source="MONDO:equivalentTo"}
xref: Orphanet:99921 {source="MONDO:equivalentTo"}
xref: SCTID:402356004 {source="MONDO:equivalentTo"}
xref: UMLS:C0867389 {source="MEDGEN:167851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013730 {source="MONDO:Redundant", source="NCIT:C4981", source="Orphanet:99921"} ! graft versus host disease
intersection_of: MONDO:0013730 ! graft versus host disease
intersection_of: has_characteristic PATO:0001863 ! chronic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease" xsd:anyURI {source="GARD:0010964"}

[Term]
id: MONDO:0020548
name: obsolete ocular pemphigoid
xref: GARD:8759 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7069" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008109

[Term]
id: MONDO:0020549
name: invasive hydatidiform mole
def: "A complete hydatidiform mole or very rarely a partial mole that invades the myometrium." [NCIT:C6985]
subset: gard_rare {source="GARD:19711", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99925"}
subset: orphanet_rare {source="Orphanet:99925"}
subset: rare
synonym: "chorioadenoma" EXACT [NCIT:C6985]
synonym: "chorioadenoma Destruens" EXACT [NCIT:C6985]
synonym: "chorioadenoma destruens" EXACT [NCIT:C6985]
synonym: "IHM" RELATED ABBREVIATION [ONCOTREE:IHM]
synonym: "invasive gestational trophoblastic neoplasm" EXACT [NCIT:C6985]
synonym: "invasive hydatidiform Mole" EXACT [NCIT:C6985]
synonym: "invasive hydatidiform mole" EXACT [NCIT:C6985]
synonym: "invasive Mole" EXACT [NCIT:C6985]
xref: GARD:19711 {source="MONDO:GARD"}
xref: ICD10CM:D39.2 {source="Orphanet:99925", source="Orphanet:99925/ntbt"}
xref: ICDO:9100/1 {source="NCIT:C6985"}
xref: MEDGEN:3055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002820 {source="MONDO:equivalentTo"}
xref: NCIT:C6985 {source="MONDO:equivalentTo"}
xref: ONCOTREE:IHM {source="MONDO:equivalentTo"}
xref: Orphanet:99925 {source="MONDO:equivalentTo"}
xref: SCTID:416669000 {source="MONDO:equivalentTo"}
xref: UMLS:C0008493 {source="MEDGEN:3055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006248 {source="MESH:D002820", source="MONDO:Redundant", source="NCIT:C6985", source="ONCOTREE:IHM"} ! hydatidiform mole
is_a: MONDO:0018944 {source="Orphanet:99925"} ! gestational trophoblastic neoplasm
is_a: MONDO:0021218 {source="MONDO:Redundant", source="NCIT:C6985"} ! placenta neoplasm
intersection_of: MONDO:0006248 ! hydatidiform mole
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0020550
name: gestational choriocarcinoma
def: "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole." [Orphanet:99926]
subset: gard_rare {source="GARD:19712", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99926"}
subset: orphanet_rare {source="Orphanet:99926"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gestational choriocarcinoma" EXACT [NCIT:C4646]
synonym: "gestational choriocarcinoma (morphologic abnormality)" EXACT [DOID:2025]
synonym: "gestational chorionepithelioma" EXACT [DOID:2025]
synonym: "molar pregnancy with choriocarcinoma" EXACT [DOID:2025]
xref: DOID:2025 {source="MONDO:equivalentTo"}
xref: GARD:19712 {source="MONDO:GARD"}
xref: ICD10CM:C58 {source="Orphanet:99926", source="Orphanet:99926/ntbt"}
xref: ICD9:181 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:138102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4646 {source="DOID:2025", source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:99926 {source="MONDO:equivalentTo"}
xref: SCTID:1884006 {source="DOID:2025"}
xref: SCTID:417057000 {source="DOID:2025"}
xref: SCTID:417570003 {source="DOID:2025", source="MONDO:equivalentTo"}
xref: UMLS:C0349557 {source="MEDGEN:138102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001416 {source="DOID:2025/inferred", source="MONDO:Redundant", source="NCIT:C4646"} ! female reproductive organ cancer
is_a: MONDO:0005207 {source="DOID:2025", source="NCIT:C4646"} ! choriocarcinoma
is_a: MONDO:0018944 {source="NCIT:C4646", source="Orphanet:99926"} ! gestational trophoblastic neoplasm
is_a: MONDO:0020539 {source="Orphanet:99926"} ! extragonadal non-dysgerminomatous germ cell tumor

[Term]
id: MONDO:0020551
name: obsolete hydatidiform mole
is_obsolete: true
replaced_by: MONDO:0006248

[Term]
id: MONDO:0020552
name: placental site trophoblastic tumor
def: "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." [Orphanet:99928]
subset: gard_rare {source="GARD:7403", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99928"}
subset: orphanet_rare {source="Orphanet:99928"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "placental site gestational trophoblastic tumor" EXACT [NCIT:C3757]
synonym: "placental site gestational trophoblastic tumour" EXACT OMO:0003005 []
synonym: "placental site trophoblastic tumor" EXACT [MONDO:0006911]
synonym: "placental site trophoblastic tumor (morphologic abnormality)" EXACT [DOID:3596]
synonym: "placental site trophoblastic tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "placental-site gestational trophoblastic neoplasm" EXACT [DOID:3596, NCIT:C3757]
synonym: "placental-site gestational trophoblastic tumor" EXACT [NCIT:C3757]
synonym: "placental-site gestational trophoblastic tumour" EXACT OMO:0003005 []
synonym: "placental-site GTT" EXACT [NCIT:C3757]
synonym: "PSST" EXACT ABBREVIATION [Orphanet:99928]
xref: DOID:3596 {source="EFO:1001111", source="MONDO:equivalentTo"}
xref: EFO:1001111 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7403 {source="MONDO:GARD"}
xref: ICD10CM:D39.2 {source="Orphanet:99928", source="Orphanet:99928/ntbt"}
xref: ICDO:9104/1 {source="NCIT:C3757"}
xref: MEDGEN:104914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018245 {source="Orphanet:99928/e", source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo", source="Orphanet:99928"}
xref: NCIT:C3757 {source="DOID:3596", source="MONDO:equivalentTo"}
xref: ONCOTREE:PSTT {source="MONDO:equivalentTo"}
xref: Orphanet:99928 {source="MONDO:equivalentTo"}
xref: SCTID:237252008 {source="DOID:3596", source="EFO:1001111", source="MONDO:equivalentTo"}
xref: SCTID:75320001 {source="DOID:3596"}
xref: UMLS:C0206666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104914"}
is_a: MONDO:0005207 {source="DOID:3596", source="EFO:1001111", source="MESH:D018245"} ! choriocarcinoma
is_a: MONDO:0018944 {source="NCIT:C3757", source="Orphanet:99928"} ! gestational trophoblastic neoplasm

[Term]
id: MONDO:0020553
name: secondary pulmonary hemosiderosis
def: "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" [Orphanet:99930]
subset: gard_rare {source="GARD:19713", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99930"}
subset: orphanet_rare {source="Orphanet:99930"}
subset: rare
xref: GARD:19713 {source="MONDO:GARD"}
xref: ICD10EXP:E83.1+ {source="Orphanet:99930/ntbt", source="Orphanet:99930"}
xref: ICD10EXP:J99.8* {source="Orphanet:99930/ntbt", source="Orphanet:99930"}
xref: icd11.foundation:878618614 {source="Orphanet:99930", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:909854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99930 {source="MONDO:equivalentTo"}
xref: SCTID:716712004 {source="MONDO:equivalentTo"}
xref: UMLS:C4274326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:909854"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163"} ! respiratory system disorder
is_a: MONDO:0015925 {source="https://orcid.org/0000-0002-3458-4839"} ! interstitial lung disease
relationship: disease_has_feature MONDO:0008346 ! pulmonary hemosiderosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0020554
name: Heiner syndrome
def: "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet." [Orphanet:99932]
subset: gard_rare {source="GARD:19714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99932"}
subset: orphanet_rare {source="Orphanet:99932"}
subset: rare
synonym: "cow's milk hypersensitivity" EXACT [Orphanet:99932]
xref: GARD:19714 {source="MONDO:GARD"}
xref: ICD10EXP:E83.1+ {source="Orphanet:99932/ntbt", source="Orphanet:99932"}
xref: ICD10EXP:J99.8* {source="Orphanet:99932/ntbt", source="Orphanet:99932"}
xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:844833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99932 {source="MONDO:equivalentTo"}
xref: SCTID:707441009 {source="MONDO:equivalentTo"}
xref: UMLS:C3873343 {source="MEDGEN:844833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020553 {source="Orphanet:99932"} ! secondary pulmonary hemosiderosis

[Term]
id: MONDO:0020555
name: pleuropulmonary blastoma type 1
def: "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent." [NCIT:P378]
subset: gard_rare {source="GARD:19715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99933"}
subset: rare
synonym: "type I pleuropulmonary blastoma" EXACT [NCIT:C45626]
xref: GARD:19715 {source="MONDO:GARD"}
xref: ICD10CM:C34.1 {source="Orphanet:99933", source="Orphanet:99933/nd"}
xref: ICD10CM:C34.2 {source="Orphanet:99933", source="Orphanet:99933/nd"}
xref: ICD10CM:C34.3 {source="Orphanet:99933", source="Orphanet:99933/nd"}
xref: ICD10CM:C34.8 {source="Orphanet:99933", source="Orphanet:99933/nd"}
xref: ICD10CM:C34.9 {source="Orphanet:99933", source="Orphanet:99933/nd"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:318288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45626 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:99933 {source="MONDO:equivalentTo"}
xref: SCTID:707671008 {source="MONDO:equivalentTo"}
xref: UMLS:C1710501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318288"}
is_a: MONDO:0011014 {source="NCIT:C45626", source="Orphanet:99933"} ! pleuropulmonary blastoma

[Term]
id: MONDO:0020556
name: pleuropulmonary blastoma type 2
def: "A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course." [NCIT:P378]
subset: gard_rare {source="GARD:19716", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99934"}
subset: rare
synonym: "type II pleuropulmonary blastoma" EXACT [NCIT:C45627]
xref: GARD:19716 {source="MONDO:GARD"}
xref: ICD10CM:C34.1 {source="Orphanet:99934", source="Orphanet:99934/nd"}
xref: ICD10CM:C34.2 {source="Orphanet:99934", source="Orphanet:99934/nd"}
xref: ICD10CM:C34.3 {source="Orphanet:99934", source="Orphanet:99934/nd"}
xref: ICD10CM:C34.8 {source="Orphanet:99934", source="Orphanet:99934/nd"}
xref: ICD10CM:C34.9 {source="Orphanet:99934", source="Orphanet:99934/nd"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:328133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45627 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:99934 {source="MONDO:equivalentTo"}
xref: SCTID:707672001 {source="MONDO:equivalentTo"}
xref: UMLS:C1710500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328133"}
is_a: MONDO:0011014 {source="NCIT:C45627", source="Orphanet:99934"} ! pleuropulmonary blastoma

[Term]
id: MONDO:0020557
name: pleuropulmonary blastoma type 3
def: "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course." [NCIT:P378]
subset: gard_rare {source="GARD:19717", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99935"}
subset: rare
synonym: "type III pleuropulmonary blastoma" EXACT [NCIT:C45628]
xref: GARD:19717 {source="MONDO:GARD"}
xref: ICD10CM:C34.1 {source="Orphanet:99935", source="Orphanet:99935/nd"}
xref: ICD10CM:C34.2 {source="Orphanet:99935", source="Orphanet:99935/nd"}
xref: ICD10CM:C34.3 {source="Orphanet:99935", source="Orphanet:99935/nd"}
xref: ICD10CM:C34.8 {source="Orphanet:99935", source="Orphanet:99935/nd"}
xref: ICD10CM:C34.9 {source="Orphanet:99935", source="Orphanet:99935/nd"}
xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:328132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45628 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: Orphanet:99935 {source="MONDO:equivalentTo"}
xref: SCTID:707673006 {source="MONDO:equivalentTo"}
xref: UMLS:C1710499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328132"}
is_a: MONDO:0011014 {source="NCIT:C45628", source="Orphanet:99935"} ! pleuropulmonary blastoma

[Term]
id: MONDO:0020558
name: autosomal dominant Charcot-Marie-Tooth disease type 2K
def: "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy." [Orphanet:99944]
subset: gard_rare {source="GARD:9199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99944"}
subset: orphanet_rare {source="Orphanet:99944"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease type 2K" EXACT [NCIT:C133886]
synonym: "CMT2K" EXACT ABBREVIATION [Orphanet:99944]
xref: GARD:9199 {source="MONDO:GARD"}
xref: ICD10CM:G60.0 {source="Orphanet:99944/attributed", source="Orphanet:99944/ntbt", source="Orphanet:99944"}
xref: MEDGEN:334294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C133886 {source="MONDO:equivalentTo"}
xref: Orphanet:99944 {source="MONDO:equivalentTo"}
xref: SCTID:719512003 {source="MONDO:equivalentTo"}
xref: UMLS:C1842984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334294"}
is_a: MONDO:0015626 {source="MONDO:Redundant", source="NCIT:C133886", source="Orphanet:99944/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="Orphanet:99944"} ! Charcot-Marie-Tooth disease type 2

[Term]
id: MONDO:0020559
name: O'Sullivan-McLeod syndrome
def: "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." [Orphanet:99965]
subset: gard_rare {source="GARD:19718", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99965"}
subset: orphanet_rare {source="Orphanet:99965"}
subset: rare
xref: GARD:19718 {source="MONDO:GARD"}
xref: ICD10CM:G12.8 {source="Orphanet:99965/ntbt", source="Orphanet:99965"}
xref: MedDRA:10069682 {source="Orphanet:99965", source="Orphanet:99965/e"}
xref: MEDGEN:797656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99965 {source="MONDO:equivalentTo"}
xref: UMLS:C2721741 {source="MEDGEN:797656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011224 {source="Orphanet:99965"} ! monomelic amyotrophy

[Term]
id: MONDO:0020560
name: atypical teratoid rhabdoid tumor
def: "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." [Orphanet:99966]
subset: gard_rare {source="GARD:16926", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99966"}
subset: orphanet_rare {source="Orphanet:99966"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AT/RT" EXACT [DOID:2129, NCIT:C6906]
synonym: "ATRT" EXACT ABBREVIATION [Orphanet:99966]
synonym: "ATT/RHT" EXACT [NCIT:C6906]
synonym: "atypical teratoid/rhabdoid tumor" EXACT [NCIT:C6906]
synonym: "atypical teratoid/rhabdoid tumor (morphologic abnormality)" EXACT [DOID:2129]
synonym: "atypical teratoid/rhabdoid tumor (WHO grade IV)" EXACT [NCIT:C6906]
synonym: "atypical teratoid/rhabdoid tumour" EXACT OMO:0003005 []
synonym: "atypical teratoid/rhabdoid tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "atypical teratoid/rhabdoid tumour (WHO grade IV)" EXACT OMO:0003005 []
synonym: "central nervous system rhabdoid neoplasm" EXACT [NCIT:C6906]
synonym: "central nervous system rhabdoid tumor" EXACT [MONDO:patterns/location, NCIT:C6906]
synonym: "central nervous system rhabdoid tumour" EXACT OMO:0003005 []
synonym: "CNS rhabdoid neoplasm" EXACT [NCIT:C6906]
synonym: "CNS rhabdoid tumor" EXACT [NCIT:C6906]
synonym: "CNS rhabdoid tumour" EXACT OMO:0003005 []
synonym: "malignant brain rhabdoid neoplasm" EXACT [NCIT:C6906]
synonym: "malignant brain rhabdoid tumor" EXACT [NCIT:C6906]
synonym: "malignant brain rhabdoid tumour" EXACT OMO:0003005 []
synonym: "malignant rhabdoid neoplasm of brain" EXACT [NCIT:C6906]
synonym: "malignant rhabdoid neoplasm of the brain" EXACT [NCIT:C6906]
synonym: "malignant rhabdoid tumor of brain" EXACT [NCIT:C6906]
synonym: "malignant rhabdoid tumor of the brain" EXACT [NCIT:C6906]
synonym: "malignant rhabdoid tumour of brain" EXACT OMO:0003005 []
synonym: "malignant rhabdoid tumour of the brain" EXACT OMO:0003005 []
synonym: "primary malignant brain rhabdoid neoplasm" EXACT [NCIT:C6906]
synonym: "primary malignant brain rhabdoid tumor" EXACT [NCIT:C6906]
synonym: "primary malignant brain rhabdoid tumour" EXACT OMO:0003005 []
synonym: "primary malignant rhabdoid neoplasm of brain" EXACT [NCIT:C6906]
synonym: "primary malignant rhabdoid neoplasm of the brain" EXACT [NCIT:C6906]
synonym: "primary malignant rhabdoid tumor of brain" EXACT [NCIT:C6906]
synonym: "primary malignant rhabdoid tumor of the brain" EXACT [NCIT:C6906]
synonym: "primary malignant rhabdoid tumour of brain" EXACT OMO:0003005 []
synonym: "primary malignant rhabdoid tumour of the brain" EXACT OMO:0003005 []
synonym: "rhabdoid neoplasm of central nervous system" EXACT [NCIT:C6906]
synonym: "rhabdoid neoplasm of CNS" EXACT [NCIT:C6906]
synonym: "rhabdoid neoplasm of the central nervous system" EXACT [NCIT:C6906]
synonym: "rhabdoid neoplasm of the CNS" EXACT [NCIT:C6906]
synonym: "rhabdoid tumor of central nervous system" EXACT [NCIT:C6906]
synonym: "rhabdoid tumor of CNS" EXACT [NCIT:C6906]
synonym: "rhabdoid tumor of the central nervous system" EXACT [NCIT:C6906]
synonym: "rhabdoid tumor of the CNS" EXACT [DOID:2129, NCIT:C6906]
synonym: "rhabdoid tumor predisposition syndrome" RELATED [DOID:2129]
synonym: "rhabdoid tumour of central nervous system" EXACT OMO:0003005 []
synonym: "rhabdoid tumour of CNS" EXACT OMO:0003005 []
synonym: "rhabdoid tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "rhabdoid tumour of the CNS" EXACT OMO:0003005 []
synonym: "rhabdoid tumour predisposition syndrome" RELATED OMO:0003005 []
xref: DOID:2129 {source="MONDO:equivalentTo"}
xref: EFO:1002008 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16926 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:99966/ntbt", source="Orphanet:99966"}
xref: ICDO:9508/3 {source="NCIT:C6906"}
xref: MEDGEN:226853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200101 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6906 {source="MONDO:equivalentTo", source="DOID:2129"}
xref: ONCOTREE:ATRT {source="MONDO:equivalentTo"}
xref: Orphanet:99966 {source="MONDO:equivalentTo"}
xref: SCTID:128792003 {source="DOID:2129"}
xref: UMLS:C1266184 {source="MEDGEN:226853", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002728 {source="MONDO:Redundant", source="NCIT:C6906", source="Orphanet:99966"} ! rhabdoid tumor
intersection_of: MONDO:0002728 ! rhabdoid tumor
intersection_of: disease_has_location UBERON:0001017 ! central nervous system
relationship: excluded_subClassOf MONDO:0001657 {source="DOID:2129", source="https://orcid.org/0000-0001-5208-3432"} ! brain cancer

[Term]
id: MONDO:0020561
name: myxoid/round cell liposarcoma
def: "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." [Orphanet:99967]
subset: gard_rare {source="GARD:7157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:99967"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99967"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MRCLS" EXACT ABBREVIATION [Orphanet:99967]
synonym: "myxoid/round-cell liposarcoma" EXACT [ONCOTREE:MRLS]
xref: GARD:7157 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:99967", source="Orphanet:99967/ntbt"}
xref: MEDGEN:107784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018208 {source="Orphanet:99967", source="Orphanet:99967/e"}
xref: NCIT:C27781 {source="ONCOTREE:MRLS"}
xref: ONCOTREE:MRLS {source="MONDO:equivalentTo"}
xref: Orphanet:99967 {source="MONDO:equivalentTo"}
xref: UMLS:C0545074 {source="MEDGEN:107784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="ONCOTREE:MRLS", source="Orphanet:99967"} ! liposarcoma

[Term]
id: MONDO:0020562
name: pleomorphic liposarcoma
def: "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma." [Orphanet:99969]
subset: gard_rare {source="GARD:19719", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:99969"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99969"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "pleomorphic liposarcoma" EXACT [DOID:5702, NCIT:C3705]
synonym: "pleomorphic liposarcoma (morphologic abnormality)" EXACT [DOID:5702]
synonym: "PLLS" RELATED ABBREVIATION [ONCOTREE:PLLS]
synonym: "PLS" EXACT ABBREVIATION [Orphanet:99969]
xref: DOID:5702 {source="MONDO:equivalentTo", source="EFO:0003083"}
xref: EFO:0003083 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19719 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:99969", source="Orphanet:99969/ntbt"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8854/3 {source="NCIT:C3705"}
xref: MEDGEN:61457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008080 {source="DOID:5702"}
xref: NCIT:C3705 {source="DOID:5702", source="MONDO:equivalentTo", source="EFO:0003083", source="MONDO:exact-label-match"}
xref: ONCOTREE:PLLS {source="MONDO:equivalentTo"}
xref: Orphanet:99969 {source="MONDO:equivalentTo"}
xref: SCTID:112683004 {source="DOID:5702", source="EFO:0003083"}
xref: SCTID:404071006 {source="DOID:5702", source="MONDO:equivalentTo", source="EFO:0003083"}
xref: UMLS:C0205825 {source="MEDGEN:61457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="DOID:5702", source="EFO:0003083", source="NCIT:C3705", source="ONCOTREE:PLLS", source="Orphanet:99969"} ! liposarcoma

[Term]
id: MONDO:0020563
name: dedifferentiated liposarcoma
def: "A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS." [Orphanet:99970]
subset: gard_rare {source="GARD:19720", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype {source="Orphanet:99970"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99970"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DDLPS" EXACT ABBREVIATION [NCIT:C3704]
synonym: "DDLS" EXACT ABBREVIATION [ONCOTREE:DDLS, Orphanet:99970]
synonym: "dedifferentiated liposarcoma" EXACT [NCIT:C3704]
xref: DOID:0080531 {source="MONDO:equivalentTo"}
xref: EFO:0003085 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19720 {source="MONDO:GARD"}
xref: ICD10CM:C49.9 {source="Orphanet:99970/ntbt", source="Orphanet:99970"}
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8858/3 {source="NCIT:C3704"}
xref: MEDGEN:60028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3704 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0003085"}
xref: ONCOTREE:DDLS {source="MONDO:equivalentTo"}
xref: Orphanet:99970 {source="MONDO:equivalentTo"}
xref: SCTID:404072004 {source="MONDO:equivalentTo", source="EFO:0003085"}
xref: SCTID:67280001 {source="EFO:0003085"}
xref: UMLS:C0205824 {source="MEDGEN:60028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005060 {source="EFO:0003085", source="NCIT:C3704", source="ONCOTREE:DDLS", source="Orphanet:99970"} ! liposarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6959" xsd:anyURI

[Term]
id: MONDO:0020564
name: obsolete well-differentiated liposarcoma
is_obsolete: true
replaced_by: MONDO:0005103

[Term]
id: MONDO:0020565
name: obsolete adenocarcinoma of esophagus
is_obsolete: true
replaced_by: MONDO:0005028

[Term]
id: MONDO:0020566
name: obsolete Klatskin tumor
is_obsolete: true
replaced_by: MONDO:0003345

[Term]
id: MONDO:0020567
name: apnea of prematurity
def: "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." [Orphanet:99981]
subset: gard_rare {source="GARD:19722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99981"}
subset: orphanet_rare {source="Orphanet:99981"}
subset: rare
xref: GARD:19722 {source="MONDO:GARD"}
xref: ICD10CM:P28.4 {source="Orphanet:99981/ntbt", source="Orphanet:99981"}
xref: icd11.foundation:894774581 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99981"}
xref: MEDGEN:473179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98823 {source="MONDO:equivalentTo"}
xref: Orphanet:99981 {source="MONDO:equivalentTo"}
xref: SCTID:276544005 {source="MONDO:equivalentTo"}
xref: UMLS:C0475715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473179"}
is_a: MONDO:0019092 {source="Orphanet:99981"} ! infantile apnea

[Term]
id: MONDO:0020568
name: cutaneous myiasis
subset: disease_grouping
subset: gard_rare {source="GARD:19723", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:99983"}
subset: rare
xref: GARD:19723 {source="MONDO:GARD"}
xref: ICD10CM:B87.0 {source="Orphanet:99983", source="Orphanet:99983/ntbt", source="MONDO:equivalentTo"}
xref: icd11.foundation:1342682193 {source="Orphanet:99983", source="MONDO:equivalentTo"}
xref: MEDGEN:507962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99983 {source="MONDO:equivalentTo"}
xref: SCTID:240877000 {source="MONDO:equivalentTo"}
xref: UMLS:C0027031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507962"}
is_a: MONDO:0019147 {source="Orphanet:99983"} ! myiasis

[Term]
id: MONDO:0020569
name: intermediate DEND syndrome
def: "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." [Orphanet:99989]
subset: gard_rare {source="GARD:19724", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99989"}
subset: orphanet_rare {source="Orphanet:99989"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form" EXACT [Orphanet:99989]
xref: GARD:19724 {source="MONDO:GARD"}
xref: MEDGEN:1843317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99989 {source="MONDO:equivalentTo"}
xref: UMLS:C5680423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843317"}
is_a: MONDO:0019207 {source="Orphanet:99989"} ! DEND syndrome

[Term]
id: MONDO:0020570
name: obsolete Brill-Zinsser disease
is_obsolete: true
replaced_by: MONDO:0005680

[Term]
id: MONDO:0020571
name: relapsing epidemic typhus
subset: gard_rare {source="GARD:19726", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99991"}
subset: rare
xref: GARD:19726 {source="MONDO:GARD"}
xref: ICD10CM:A75.0 {source="Orphanet:99991/ntbt", source="Orphanet:99991"}
xref: MEDGEN:1826151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99991 {source="MONDO:equivalentTo"}
xref: UMLS:C5681812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826151"}
is_a: MONDO:0019362 {source="Orphanet:99991"} ! epidemic louse-borne typhus

[Term]
id: MONDO:0020572
name: complex regional pain syndrome type 2
def: "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." [Orphanet:99994]
subset: gard_rare {source="GARD:19727", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "causalgia" EXACT [MONDO:0006691, Orphanet:99994]
synonym: "Complex regional pain syndrome II" EXACT [NCIT:C121572]
synonym: "Complex regional pain syndrome, type II" EXACT [DOID:3222]
synonym: "CRPS II" EXACT [NCIT:C121572]
xref: DOID:3222 {source="MONDO:equivalentTo", source="EFO:1000854"}
xref: EFO:1000854 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19727 {source="MONDO:GARD"}
xref: ICD10CM:G56.4 {source="Orphanet:99994", source="Orphanet:99994/e"}
xref: MedDRA:10007825 {source="EFO:1000854"}
xref: MedDRA:10064335 {source="Orphanet:99994", source="Orphanet:99994/e"}
xref: MEDGEN:2918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002422 {source="DOID:3222", source="MONDO:equivalentTo", source="EFO:1000854"}
xref: NCIT:C121572 {source="DOID:3222", source="MONDO:equivalentTo"}
xref: Orphanet:99994 {source="MONDO:equivalentTo"}
xref: SCTID:155074001 {source="DOID:3222"}
xref: SCTID:247397004 {source="DOID:3222"}
xref: SCTID:267705008 {source="DOID:3222"}
xref: SCTID:408751001 {source="DOID:3222", source="MONDO:equivalentTo"}
xref: SCTID:66056001 {source="DOID:3222"}
xref: UMLS:C0007462 {source="MEDGEN:2918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C121572"} ! syndromic disease
is_a: MONDO:0019369 {source="DOID:3222", source="MESH:D002422", source="Orphanet:99994"} ! complex regional pain syndrome

[Term]
id: MONDO:0020573
name: inherited disease susceptibility
def: "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." [MESH:D020022]
subset: predisposition
synonym: "genetic predisposition" RELATED [MESH:D020022]
synonym: "genetic predispositions" RELATED [MESH:D020022]
synonym: "genetic susceptibilities" RELATED [MESH:D020022]
synonym: "genetic susceptibility" RELATED [MESH:D020022]
synonym: "hereditary disease susceptibility" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary predisposition to disease" EXACT [MONDO:patterns/hereditary]
synonym: "predisposition, genetic" RELATED [MESH:D020022]
synonym: "predispositions, genetic" RELATED [MESH:D020022]
synonym: "susceptibilities, genetic" RELATED [MESH:D020022]
synonym: "susceptibility, genetic" RELATED [MESH:D020022]
xref: ICD10CM:Z14-Z15 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:Z15 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:137259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020022 {source="MONDO:equivalentTo"}
xref: UMLS:C0314657 {source="MONDO:equivalentTo", source="MEDGEN:137259", source="MONDO:MEDGEN"}
intersection_of: MONDO:0042489 {source="MESH:D020022"} ! disease susceptibility
intersection_of: has_characteristic MONDO:0021152 {source="MESH:D020022"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-6601-2165
creation_date: 2017-09-30T12:01:25Z

[Term]
id: MONDO:0020574
name: central nervous system nongerminomatous germ cell tumor
def: "Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor." [NCIT:C100093]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system nongerminomatous germ cell tumor" EXACT [NCIT:C100093]
synonym: "nongerminomatous GCT - CNS" EXACT [NCIT:C100093]
synonym: "nongerminomatous germ cell tumor of the CNS" EXACT [NCIT:C100093]
synonym: "nongerminomatous germ cell tumour of the CNS" EXACT OMO:0003005 []
xref: MEDGEN:760465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C100093 {source="MONDO:equivalentTo"}
xref: UMLS:C1696109 {source="MEDGEN:760465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003000 {source="NCIT:C100093"} ! central nervous system germ cell tumor
is_a: MONDO:0021656 {source="NCIT:C100093"} ! nongerminomatous germ cell tumor
intersection_of: MONDO:0021656 ! nongerminomatous germ cell tumor
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0020575
name: polymorphic ventricular tachycardia
def: "A ventricular tachycardia that is irregular in rate and rhythm." [NCIT:C111648]
subset: otar {source="MONDO:OTAR"}
synonym: "polymorphic ventricular tachycardia" EXACT [NCIT:C111648]
synonym: "ventricular tachycardia, polymorphic" EXACT []
xref: HP:0031677
xref: MEDGEN:138002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C111648 {source="MONDO:equivalentTo"}
xref: SCTID:251159007 {source="MONDO:equivalentTo"}
xref: UMLS:C0344432 {source="MEDGEN:138002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005477 {source="HP:0031677", source="NCIT:C111648"} ! ventricular tachycardia

[Term]
id: MONDO:0020576
name: cutaneous vasculitis
def: "Inflammation of the blood vessel wall characterized by palpable purpura." [NCIT:C112210]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous vasculitis" EXACT [NCIT:C112210]
xref: MEDGEN:488809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C112210 {source="MONDO:equivalentTo"}
xref: UMLS:C0262988 {source="MEDGEN:488809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018882 {source="NCIT:C112210"} ! vasculitis
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_has_inflammation_site UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0020577
name: childhood gonadal germ cell tumor
def: "A germ cell tumor that arises from the testis or ovary and occurs during childhood." [NCIT:C114801]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood gonadal germ cell tumor" EXACT [NCIT:C114801]
synonym: "gonadal germ cell tumor of childhood" EXACT [MONDO:patterns/childhood]
synonym: "gonadal germ cell tumour of childhood" EXACT OMO:0003005 []
synonym: "paediatric gonadal germ cell tumour" EXACT OMO:0003005 []
synonym: "pediatric gonadal germ cell tumor" EXACT [MONDO:patterns/childhood]
xref: MEDGEN:859251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114801 {source="MONDO:equivalentTo"}
xref: UMLS:C3899657 {source="MEDGEN:859251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0018202 ! gonadal germ cell tumor
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0020578
name: obsolete vitamin D deficiency
def: "OBSOLETE. Abnormally low level of 25-hydroxyvitamin D in the blood." []
is_obsolete: true
replaced_by: HP:0100512

[Term]
id: MONDO:0020579
name: mucositis
def: "Inflammation of the mucous membranes." [NCIT:C115965]
synonym: "inflammation of mucosa" EXACT []
synonym: "mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "mucositis" EXACT [NCIT:C115965]
xref: MEDGEN:87165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052016 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C115965 {source="MONDO:equivalentTo"}
xref: UMLS:C0333355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87165"}
is_a: MONDO:0021166 {source="NCIT:C115965"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000344 ! mucosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0020580
name: germinomatous germ cell tumor
def: "A term that refers to germinoma, seminoma, or dysgerminoma." [NCIT:C121618]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "germinomatous germ cell tumor" EXACT [NCIT:C121618]
xref: MEDGEN:888719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121618 {source="MONDO:equivalentTo"}
xref: UMLS:C4054897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:888719"}
is_a: MONDO:0005040 {source="NCIT:C121618"} ! germ cell tumor
disjoint_from: MONDO:0021656 ! nongerminomatous germ cell tumor

[Term]
id: MONDO:0020581
name: benign PEComa
def: "A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures." [NCIT:C121791]
subset: inferred_rare
subset: rare
synonym: "benign neoplasm with perivascular epithelioid cell differentiation" EXACT []
synonym: "benign PEComa" EXACT [NCIT:C121791]
synonym: "benign PEComa, nos" EXACT [NCIT:C121791]
synonym: "benign PEComa, not otherwise specified" EXACT [NCIT:C121791]
synonym: "neoplasm with perivascular epithelioid cell differentiation, benign" EXACT [MONDO:patterns/benign]
synonym: "typical PEComa" EXACT [NCIT:C121791]
xref: MEDGEN:825530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121791 {source="MONDO:equivalentTo"}
xref: UMLS:C3839685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:825530"}
is_a: MONDO:0006359 {source="NCIT:C121791"} ! neoplasm with perivascular epithelioid cell differentiation
intersection_of: MONDO:0006359 ! neoplasm with perivascular epithelioid cell differentiation
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0020582
name: benign uterine ligament neoplasm
def: "A non-metastasizing neoplasm that arises from the uterine ligament." [NCIT:C126493]
synonym: "benign uterine ligament neoplasm" EXACT [NCIT:C126493]
xref: MEDGEN:923071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126493 {source="MONDO:equivalentTo"}
xref: UMLS:C0865093 {source="MEDGEN:923071", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000624 {source="NCIT:C126493"} ! benign female reproductive system neoplasm
is_a: MONDO:0021629 {source="NCIT:C126493"} ! uterine ligament neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0020583
name: chromosome 17 disorder
def: "Chromosomal disorder in which chromosome 17 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chromosome 17 abnormality" RELATED [NCIT:C129438]
xref: MEDGEN:1380521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129438 {source="MONDO:relatedTo"}
xref: UMLS:C4329664 {source="MEDGEN:1380521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder
is_a: MONDO:0020049 {source="https://orcid.org/0000-0002-4142-7153"} ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr17 ! chromosome 17 (Human)

[Term]
id: MONDO:0020584
name: anemia due to enzyme disorder
def: "Any form of anemia that results from the absence of, or the defective action of, any enzyme." [NCIT:C35472]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anemia due to enzyme disorder" EXACT [NCIT:C35472]
xref: MEDGEN:105411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35472 {source="MONDO:equivalentTo"}
xref: UMLS:C0494226 {source="MEDGEN:105411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002280 {source="NCIT:C35472"} ! anemia
intersection_of: MONDO:0002280 ! anemia
intersection_of: disease_has_basis_in_disruption_of GO:0003824 ! catalytic activity

[Term]
id: MONDO:0020585
name: anemia due to erythrocyte enzyme disorder
def: "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." [NCIT:C131630]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anemia due to erythrocyte enzyme disorder" EXACT [NCIT:C131630]
xref: MEDGEN:1383362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131630 {source="MONDO:equivalentTo"}
xref: UMLS:C4329304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1383362"}
is_a: MONDO:0020584 {source="NCIT:C131630"} ! anemia due to enzyme disorder

[Term]
id: MONDO:0020586
name: factor V deficiency
def: "A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood." [NCIT:C131738]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "factor V deficiency" EXACT [NCIT:C131738]
xref: MEDGEN:1369551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005166 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:2200674 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131738 {source="MONDO:equivalentTo"}
xref: SCTID:4320005 {source="MONDO:equivalentTo"}
xref: UMLS:C4317320 {source="MEDGEN:1369551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 ! coagulation protein disease
relationship: disease_arises_from_feature HP:0003225 ! Reduced coagulation factor V activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0020587
name: factor XI deficiency
def: "A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood." [NCIT:C131739]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "factor XI deficiency" EXACT [NCIT:C131739]
xref: MEDGEN:1386956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005173 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NANDO:2200679 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131739 {source="MONDO:equivalentTo"}
xref: SCTID:767713001 {source="MONDO:equivalentTo"}
xref: UMLS:C4321502 {source="MEDGEN:1386956", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018660 {source="NCIT:C131739"} ! hemophilia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0020588
name: lung PEComa
def: "A lung tumor that arises from perivascular epithelioid cells (PECs)." [NCIT:C142783]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung PEComa" EXACT [NCIT:C142783]
synonym: "lung pecomatous tumor" EXACT [NCIT:C142783]
synonym: "lung pecomatous tumour" EXACT OMO:0003005 []
xref: MEDGEN:1639012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C142783 {source="MONDO:equivalentTo"}
xref: UMLS:C4684821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639012"}
is_a: MONDO:0006359 {source="NCIT:C142783"} ! neoplasm with perivascular epithelioid cell differentiation
intersection_of: MONDO:0006359 ! neoplasm with perivascular epithelioid cell differentiation
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0020589
name: cardiac germ cell tumor
def: "A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors." [NCIT:C147005]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cardiac germ cell tumor" EXACT [NCIT:C147005]
synonym: "heart germ cell tumor" EXACT [NCIT:C147005]
synonym: "heart germ cell tumour" EXACT OMO:0003005 []
xref: MEDGEN:1633290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C147005 {source="MONDO:equivalentTo"}
xref: UMLS:C4687640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633290"}
is_a: MONDO:0018201 {source="NCIT:C147005"} ! extragonadal germ cell tumor
is_a: MONDO:0021209 {source="NCIT:C147005"} ! heart neoplasm
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0020590
name: mycobacterial infectious disease
def: "Infection due to organisms from the genus Mycobacteria." [NCIT:C26831]
subset: otar {source="MONDO:OTAR"}
synonym: "mycobacterial infection" EXACT [NCIT:C26831]
synonym: "mycobacteriosis" EXACT []
synonym: "mycobacterium infection" EXACT [NCIT:C26831]
xref: MEDGEN:6479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009164 {source="MONDO:equivalentTo"}
xref: NCIT:C26831 {source="MONDO:equivalentTo"}
xref: SCTID:88415009 {source="MONDO:equivalentTo"}
xref: UMLS:C0026918 {source="MEDGEN:6479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="NCIT:C26831"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1763 ! Mycobacterium

[Term]
id: MONDO:0020591
name: obsolete disorder of peritoneum
def: "OBSOLETE. A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." [NCIT:C26848]
comment: Reason: grouping class specific to autosomal disorder. Term to consider: none.
synonym: "disease of peritoneum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of peritoneum" EXACT []
synonym: "disorder of peritoneum" EXACT [MONDO:patterns/location_top]
synonym: "peritoneal disease" EXACT [NCIT:C26848]
synonym: "peritoneal disorder" EXACT [NCIT:C26848]
synonym: "peritoneum disease" EXACT []
synonym: "peritoneum disease or disorder" EXACT [MONDO:patterns/location]
xref: ICD10CM:K65-K68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D010532 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C26848 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:66579008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4621" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020592
name: disorder of pharynx
def: "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma." [NCIT:C26850]
subset: otar {source="MONDO:OTAR"}
synonym: "chordate pharynx disease" EXACT []
synonym: "chordate pharynx disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of chordate pharynx" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of chordate pharynx" EXACT []
synonym: "disorder of chordate pharynx" EXACT [MONDO:patterns/location_top]
synonym: "pharyngeal disease" EXACT []
synonym: "pharyngeal disorder" EXACT [NCIT:C26850]
xref: MEDGEN:10691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26850 {source="MONDO:equivalentTo"}
xref: SCTID:75860007 {source="MONDO:equivalentTo"}
xref: UMLS:C0031345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10691"}
is_a: MONDO:0024623 {source="NCIT:C26850"} ! otorhinolaryngologic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001042 ! chordate pharynx

[Term]
id: MONDO:0020593
name: trichoblastoma
def: "A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty." [NCIT:C27132]
subset: otar {source="MONDO:OTAR"}
synonym: "Brooke's tumor" EXACT [NCIT:C27132]
synonym: "Brooke's tumour" EXACT OMO:0003005 []
synonym: "trichoblastoma" EXACT [NCIT:C27132]
synonym: "trichoepithelioma" EXACT [NCIT:C27132]
synonym: "trichoepithelioma, benign" EXACT [NCIT:C27132]
synonym: "trichogenic adnexal tumor" EXACT [NCIT:C27132]
synonym: "trichogenic adnexal tumour" EXACT OMO:0003005 []
synonym: "trichogenic trichoblastoma" EXACT [NCIT:C27132]
xref: ICDO:8100/0 {source="NCIT:C27132"}
xref: MEDGEN:138112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27132 {source="MONDO:equivalentTo"}
xref: UMLS:C0349658 {source="MEDGEN:138112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024666 ! benign epithelial skin neoplasm

[Term]
id: MONDO:0020594
name: abducens nerve disorder
def: "A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve)." [NCIT:C27593]
synonym: "abducens nerve disease" EXACT [NCIT:C27593]
synonym: "abducens nerve disease or disorder" EXACT [MONDO:patterns/location]
synonym: "abducens nerve disorder" EXACT [NCIT:C27593]
synonym: "disease of abducens nerve" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of abducens nerve" EXACT []
synonym: "disorder of abducens nerve" EXACT [MONDO:patterns/location_top]
synonym: "VIth nerve disorder" EXACT [NCIT:C27593]
xref: MEDGEN:78767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27593 {source="MONDO:equivalentTo"}
xref: SCTID:398925009 {source="MONDO:equivalentTo"}
xref: UMLS:C0271355 {source="MEDGEN:78767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003569 {source="NCIT:C27593"} ! cranial nerve neuropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001646 ! abducens nerve

[Term]
id: MONDO:0020595
name: obsolete disorder of retroperitoneum
def: "OBSOLETE. A disease or disorder that involves the retroperitoneal space." [MONDO:patterns/location]
comment: Reason: grouping class specific to autosomal disorder. Term to consider: none.
synonym: "disease of retroperitoneal space" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of retroperitoneal space" EXACT []
synonym: "disorder of retroperitoneal space" EXACT [MONDO:patterns/location_top]
synonym: "retroperitoneal disease" EXACT [NCIT:C27667]
synonym: "retroperitoneal disorder" EXACT [NCIT:C27667]
synonym: "retroperitoneal space disease" EXACT []
synonym: "retroperitoneal space disease or disorder" EXACT [MONDO:patterns/location]
xref: ICD10CM:K65-K68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: NCIT:C27667 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:734045002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4621" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020596
name: mucin-producing carcinoma
subset: otar {source="MONDO:OTAR"}
synonym: "mucin-producing carcinoma" EXACT [NCIT:C27825]
xref: MEDGEN:87225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27825 {source="MONDO:equivalentTo"}
xref: UMLS:C0334368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87225"}
is_a: MONDO:0004993 {source="NCIT:C27825"} ! carcinoma
is_a: MONDO:0024338 {source="https://orcid.org/0000-0002-6601-2165"} ! mucinous neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: MONDO:0024338 ! mucinous neoplasm

[Term]
id: MONDO:0020597
name: angiokeratoma of scrotum
def: "An angiokeratoma that is located on the scrotum." [NCIT:C7752]
synonym: "angiokeratoma of fordyce" BROAD [NCIT:C7752]
synonym: "angiokeratoma of scrotum" EXACT [NCIT:C7752]
synonym: "angiokeratoma of the scrotum" EXACT [NCIT:C7752]
synonym: "fordyce angiokeratoma" BROAD [NCIT:C7752]
synonym: "fordyce-type angiokeratoma of scrotum" EXACT [NCIT:C7752]
synonym: "fordyce-type angiokeratoma of the scrotum" EXACT [NCIT:C7752]
synonym: "scrotal angiokeratoma" EXACT [NCIT:C7752]
synonym: "scrotal fordyce-type angiokeratoma" EXACT [NCIT:C7752]
synonym: "scrotum angiokeratoma" EXACT [MONDO:patterns/location]
xref: NCIT:C7752 {source="MONDO:equivalentTo"}
xref: SCTID:735082004 {source="MONDO:equivalentTo"}
is_a: MONDO:0003143 {source="NCIT:C7752"} ! angiokeratoma
is_a: MONDO:0003954 ! angiokeratoma of Fordyce
intersection_of: MONDO:0003143 ! angiokeratoma
intersection_of: disease_has_location UBERON:0001300 ! scrotum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7169" xsd:anyURI

[Term]
id: MONDO:0020598
name: malabsorption syndrome
def: "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea." [NCIT:C3214]
subset: otar {source="MONDO:OTAR"}
synonym: "malabsorption" EXACT [NCIT:C3214]
synonym: "malabsorption syndrome" EXACT [NCIT:C3214]
xref: EFO:0009554 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:44256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008286 {source="MONDO:equivalentTo"}
xref: NCIT:C3214 {source="MONDO:equivalentTo"}
xref: SCTID:32230006 {source="MONDO:equivalentTo"}
xref: UMLS:C0024523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44256"}
is_a: MONDO:0005020 ! intestinal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0050892 ! intestinal absorption

[Term]
id: MONDO:0020599
name: acquired coagulation factor deficiency
def: "Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease." [NCIT:C34347]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acquired coagulation factor deficiency" EXACT [NCIT:C34347]
synonym: "acquired coagulation protein disease" EXACT [MONDO:patterns/acquired]
xref: MEDGEN:98 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200896 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C34347 {source="MONDO:equivalentTo"}
xref: SCTID:25904003 {source="MONDO:equivalentTo"}
xref: UMLS:C0001169 {source="MEDGEN:98", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="NCIT:C34347"} ! coagulation protein disease
intersection_of: MONDO:0002242 ! coagulation protein disease
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0020600
name: acute pharyngitis
def: "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." [NCIT:C34355]
subset: otar {source="MONDO:OTAR"}
synonym: "acute pharyngitis" EXACT [NCIT:C34355]
synonym: "pharyngitis, acute" EXACT [MONDO:patterns/acute]
xref: EFO:0009657 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34355 {source="MONDO:equivalentTo"}
xref: SCTID:363746003 {source="MONDO:equivalentTo"}
xref: UMLS:C0001344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:114"}
is_a: MONDO:0002258 {source="NCIT:C34355"} ! pharyngitis
intersection_of: MONDO:0002258 ! pharyngitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020601
name: mosquito-borne viral encephalitis
def: "Viral encephalitis that is transmitted by mosquitos." [NCIT:C34823]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mosquito-borne viral encephalitis" EXACT [NCIT:C34823]
xref: MEDGEN:152945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34823 {source="MONDO:equivalentTo"}
xref: UMLS:C0751098 {source="MEDGEN:152945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006009 {source="NCIT:C34823"} ! viral encephalitis
intersection_of: MONDO:0006009 ! viral encephalitis
intersection_of: transmitted_by NCBITaxon:7157 ! Culicidae

[Term]
id: MONDO:0020602
name: Simpson-Golabi-Behmel syndrome type 1
def: "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bulldog syndrome" EXACT [DOID:0060248]
synonym: "DGSX Golabi-Rosen syndrome" EXACT [DOID:0060248]
synonym: "dysplasia gigantism syndrome, X-linked" RELATED [OMIM:312870]
synonym: "Golabi-Rosen syndrome" RELATED [OMIM:312870]
synonym: "GPC3 Simpson-Golabi-Behmel syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Sgbs" RELATED [OMIM:312870]
synonym: "SGBS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:312870, Orphanet:373]
synonym: "Simpson dysmorphia syndrome" EXACT [DOID:0060248, OMIM:312870, Orphanet:373]
synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in GPC3" EXACT []
synonym: "Simpson-Golabi-Behmel syndrome type 1" EXACT [Orphanet:373]
synonym: "Simpson-Golabi-Behmel syndrome, type 1" RELATED [MONDO:Lexical, OMIM:312870]
synonym: "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive" EXACT [OMIM:312870, OMIM:genemap2]
xref: DOID:0060248 {source="MONDO:equivalentTo"}
xref: MEDGEN:162917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:312870 {source="MONDO:equivalentTo"}
xref: Orphanet:373 {source="OMIM:312870"}
xref: UMLS:C0796154 {source="MEDGEN:162917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0010731 ! Simpson-Golabi-Behmel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4451 ! GPC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4451 {source="MONDO:mim2gene_medgen"} ! GPC3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020603
name: X-linked chondrodysplasia punctata 2
def: "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." [Orphanet:35173]
subset: gard_rare {source="GARD:6189", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1005"}
subset: ordo_disorder {source="Orphanet:35173"}
subset: orphanet_rare {source="Orphanet:35173"}
subset: rare
synonym: "CDPX2" EXACT ABBREVIATION [OMIM:302960, Orphanet:35173, PMID:20643494]
synonym: "CDPXD" EXACT ABBREVIATION [GARD:0006189, OMIM:302960, Orphanet:35173]
synonym: "chondrodysplasia punctata 2 X-linked dominant" EXACT [GARD:0006189]
synonym: "chondrodysplasia punctata 2, X-linked dominant" EXACT CLINGEN_LABEL [MONDO:0026782, MONDO:Lexical, OMIM:302960]
synonym: "chondrodysplasia punctata caused by mutation in EBP" EXACT []
synonym: "chondrodysplasia punctata, X-linked dominant, X-linked dominant" EXACT [OMIM:302960, OMIM:genemap2]
synonym: "Conrad Hunermann Happle syndrome" EXACT [GARD:0006189]
synonym: "Conradi Hunermann syndrome" EXACT [GARD:0006189]
synonym: "Conradi Hünermann Syndrome" EXACT [NORD:1005]
synonym: "Conradi-Hunermann syndrome" EXACT [OMIM:302960]
synonym: "Conradi-Hunermann-Happle syndrome" EXACT [OMIM:302960]
synonym: "Conradi-Hünermann-Happle syndrome" EXACT [Orphanet:35173]
synonym: "EBP chondrodysplasia punctata" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Happle syndrome" EXACT [GARD:0006189, OMIM:302960]
synonym: "X-linked chondrodysplasia punctata type 2" EXACT [Orphanet:35173]
xref: DOID:0080352 {source="MONDO:equivalentTo"}
xref: GARD:6189 {source="MONDO:GARD"}
xref: MEDGEN:79381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200630 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201357 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1005 {source="MONDO:NORD"}
xref: OMIM:302960 {source="DOID:0080352", source="MONDO:equivalentTo"}
xref: Orphanet:35173 {source="OMIM:302960", source="MONDO:equivalentTo", source="GARD:0006189", source="DOID:0060292"}
xref: UMLS:C0282102 {source="MEDGEN:79381", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002081 ! musculoskeletal system disorder
is_a: MONDO:0010556 {source="https://orcid.org/0000-0002-4142-7153"} ! X-linked chondrodysplasia punctata
is_a: MONDO:0015775 {source="Orphanet:35173"} ! non-rhizomelic chondrodysplasia punctata
is_a: MONDO:0019240 {source="Orphanet:35173"} ! sterol biosynthesis disorder
is_a: MONDO:0019701 {source="DOID:0080352", source="PMID:31633310"} ! chondrodysplasia punctata
is_a: MONDO:0100118 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary skin disorder
intersection_of: MONDO:0019701 ! chondrodysplasia punctata
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3133 ! EBP
relationship: excluded_subClassOf MONDO:0017269 {source="Orphanet:35173", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked ichthyosis syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3133 {source="MONDO:mim2gene_medgen"} ! EBP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3906" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6189/chondrodysplasia-punctata-2-x-linked-dominant" xsd:anyURI {source="GARD:0006189"}

[Term]
id: MONDO:0020604
name: X-linked dominant disease
def: "X-linked dominant form of disease." [MONDO:patterns/x_linked]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0080009 {source="MONDO:equivalentTo"}
xref: MEDGEN:1798084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5566661 {source="MEDGEN:1798084", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000425 {source="DOID:0080009"} ! X-linked disease
intersection_of: MONDO:0000001 ! disease
intersection_of: has_characteristic HP:0001423 ! X-linked dominant inheritance
disjoint_from: MONDO:0020605 ! X-linked recessive disease

[Term]
id: MONDO:0020605
name: X-linked recessive disease
def: "X-linked recessive form of disease." [MONDO:patterns/x_linked]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0080012 {source="MONDO:equivalentTo"}
xref: MEDGEN:1798083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5566660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798083"}
is_a: MONDO:0000425 {source="DOID:0080012"} ! X-linked disease
intersection_of: MONDO:0000001 ! disease
intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance

[Term]
id: MONDO:0020606
name: sex-linked disease
synonym: "sex-linked hereditary disorder" EXACT []
xref: ICD9:758.81
xref: MEDGEN:183658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:82852009 {source="MONDO:equivalentTo"}
xref: UMLS:C0949683 {source="MEDGEN:183658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/1758"} ! hereditary disease

[Term]
id: MONDO:0020607
name: Liddle syndrome 1
def: "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Liddle syndrome" RELATED [OMIM:177200]
synonym: "Liddle syndrome 1" EXACT [OMIM:177200]
synonym: "Liddle syndrome caused by mutation in SCNN1B" EXACT []
synonym: "LIDLS1" RELATED ABBREVIATION [OMIM:177200]
synonym: "Pseudoaldosteronism" RELATED [OMIM:177200]
synonym: "SCNN1B Liddle syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
xref: OMIM:177200 {source="MONDO:equivalentTo"}
xref: Orphanet:526 {source="OMIM:177200"}
is_a: MONDO:0008323 {source="OMIM:177200"} ! Liddle syndrome
intersection_of: MONDO:0008323 ! Liddle syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10600 ! SCNN1B
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10600 {source="MONDO:mim2gene_medgen"} ! SCNN1B

[Term]
id: MONDO:0020608
name: obsolete blood group--ahonen
comment: Obsoleted as it represents a trait
synonym: "AN" RELATED ABBREVIATION [OMIM:110350]
synonym: "BLOOD GROUP--AHONEN" RELATED [OMIM:110350]
xref: OMIM:110350 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0020609
name: obsolete blood group, colton system
synonym: "aquaporin-1 deficiency" EXACT [OMIM:110450, OMIM:genemap2]
synonym: "blood group, Colton" EXACT [OMIM:110450, OMIM:genemap2]
synonym: "BLOOD GROUP, COLTON SYSTEM" RELATED [OMIM:110450]
synonym: "CO" RELATED ABBREVIATION [OMIM:110450]
synonym: "Colton Blood Group System" RELATED [OMIM:110450]
synonym: "Colton-Null Phenotype" RELATED [OMIM:110450]
xref: OMIM:110450 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020610
name: obsolete blood group, diego system
synonym: "blood group, Diego" EXACT [OMIM:110500, OMIM:genemap2]
synonym: "BLOOD GROUP, DIEGO SYSTEM" RELATED [OMIM:110500]
synonym: "DI" RELATED ABBREVIATION [OMIM:110500]
synonym: "Diego Blood Group System" RELATED [OMIM:110500]
xref: OMIM:110500 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020611
name: obsolete blood group--kell system
synonym: "blood group, Kell" EXACT [OMIM:110900, OMIM:genemap2]
synonym: "BLOOD GROUP--KELL SYSTEM" RELATED [OMIM:110900]
synonym: "Blood Group--Kell-Cellano System" RELATED [OMIM:110900]
synonym: "K(0)" RELATED [OMIM:110900]
synonym: "KEL" RELATED ABBREVIATION [OMIM:110900]
synonym: "Kell-Null" RELATED [OMIM:110900]
synonym: "Ko" RELATED [OMIM:110900]
xref: OMIM:110900 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020612
name: obsolete blood group, kidd system
synonym: "blood group, Kidd" EXACT [OMIM:111000, OMIM:genemap2]
synonym: "BLOOD GROUP, KIDD SYSTEM" RELATED [OMIM:111000]
synonym: "JK" RELATED ABBREVIATION [OMIM:111000]
synonym: "Kidd Blood Group System" RELATED [OMIM:111000]
xref: OMIM:111000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020613
name: obsolete blood group--lke
synonym: "BLOOD GROUP--LKE" RELATED [OMIM:111130]
synonym: "Blood Group--Luke" RELATED [OMIM:111130]
synonym: "Blood Group--Luke, Formerly" RELATED [OMIM:111130]
synonym: "LKE" RELATED ABBREVIATION [OMIM:111130]
xref: OMIM:111130 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0020614
name: obsolete blood group--lutheran system
synonym: "Auberger System" RELATED [OMIM:111200]
synonym: "blood group, Auberger system" EXACT [OMIM:111200, OMIM:genemap2]
synonym: "blood group, Lutheran system" EXACT [OMIM:111200, OMIM:genemap2]
synonym: "BLOOD GROUP--LUTHERAN SYSTEM" RELATED [OMIM:111200]
synonym: "LU" RELATED ABBREVIATION [OMIM:111200]
xref: OMIM:111200 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020615
name: obsolete blood group system, landsteiner-wiener
synonym: "BLOOD GROUP SYSTEM, LANDSTEINER-WIENER" RELATED [OMIM:111250]
synonym: "blood group, Landsteiner-Wiener" EXACT [OMIM:111250, OMIM:genemap2]
synonym: "Landsteiner-Wiener Blood Group System" RELATED [OMIM:111250]
synonym: "LW" RELATED ABBREVIATION [OMIM:111250]
xref: OMIM:111250 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020616
name: obsolete blood group, mn
synonym: "BLOOD GROUP, MN" RELATED [OMIM:111300]
synonym: "Blood Group, Mnss System" RELATED [OMIM:111300]
synonym: "blood group, MNSs system" EXACT [OMIM:111300, OMIM:genemap2]
synonym: "MN" RELATED ABBREVIATION [OMIM:111300]
synonym: "Mn Blood Group" RELATED [OMIM:111300]
synonym: "Mns Blood Group Systed" RELATED [OMIM:111300]
synonym: "Mnss Blood Group System" RELATED [OMIM:111300]
xref: OMIM:111300 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020617
name: obsolete blood group--ok
synonym: "blood group, OK" EXACT [OMIM:111380, OMIM:genemap2]
synonym: "BLOOD GROUP--OK" RELATED [OMIM:111380]
synonym: "OK" RELATED ABBREVIATION [OMIM:111380]
xref: OMIM:111380 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020618
name: obsolete blood group--private systems
synonym: "antigenic Determinants of Low Frequency in the Population" RELATED [OMIM:111500]
synonym: "BLOOD GROUP--PRIVATE SYSTEMS" RELATED [OMIM:111500]
xref: OMIM:111500 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0020619
name: obsolete blood group, langereis system
synonym: "BLOOD GROUP, LANGEREIS SYSTEM" RELATED [OMIM:111600]
synonym: "blood group, Langereis system" EXACT [OMIM:111600, OMIM:genemap2]
synonym: "LAN" RELATED ABBREVIATION [OMIM:111600]
xref: OMIM:111600 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020620
name: obsolete blood group, ss
synonym: "BLOOD GROUP, Ss" RELATED [OMIM:111740]
synonym: "blood group, Ss" EXACT [OMIM:111740, OMIM:genemap2]
synonym: "Ss" RELATED [OMIM:111740]
synonym: "Ss Blood Group" RELATED [OMIM:111740]
xref: OMIM:111740 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020621
name: obsolete blood group--scianna system
synonym: "blood group, Scianna system" EXACT [OMIM:111750, OMIM:genemap2]
synonym: "BLOOD GROUP--SCIANNA SYSTEM" RELATED [OMIM:111750]
synonym: "SC" RELATED ABBREVIATION [OMIM:111750]
synonym: "Scianna Blood Group" RELATED [OMIM:111750]
xref: OMIM:111750 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020622
name: obsolete blood group--stoltzfus system
synonym: "blood group, Stoltzfus system" EXACT [OMIM:111800, OMIM:genemap2]
synonym: "BLOOD GROUP--STOLTZFUS SYSTEM" RELATED [OMIM:111800]
synonym: "Sf" RELATED [OMIM:111800]
xref: OMIM:111800 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020623
name: obsolete blood group--ul system
synonym: "BLOOD GROUP--Ul SYSTEM" RELATED [OMIM:112000]
synonym: "UL" RELATED ABBREVIATION [OMIM:112000]
xref: OMIM:112000 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0020624
name: obsolete blood group--waldner type
synonym: "blood group, Waldner" EXACT [OMIM:112010, OMIM:genemap2]
synonym: "BLOOD GROUP--WALDNER TYPE" RELATED [OMIM:112010]
synonym: "Waldner Blood Group Antigen" RELATED [OMIM:112010]
synonym: "WD" RELATED ABBREVIATION [OMIM:112010]
xref: OMIM:112010 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020625
name: obsolete blood group--wright antigen
synonym: "blood group, Wright" EXACT [OMIM:112050, OMIM:genemap2]
synonym: "BLOOD GROUP--WRIGHT ANTIGEN" RELATED [OMIM:112050]
synonym: "WR" RELATED ABBREVIATION [OMIM:112050]
synonym: "Wright Blood Group Antigen" RELATED [OMIM:112050]
xref: OMIM:112050 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020626
name: obsolete yt blood group antigen
synonym: "blood group, Yt system" EXACT [OMIM:112100, OMIM:genemap2]
synonym: "Cartwright Antigen" RELATED [OMIM:112100]
synonym: "YT BLOOD GROUP ANTIGEN" RELATED [OMIM:112100]
xref: OMIM:112100 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020627
name: epileptic encephalopathy, infantile or early childhood
comment: See https://github.com/monarch-initiative/mondo/issues/271
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:617711 {source="MONDO:equivalentTo"}
is_a: MONDO:0015650 ! epilepsy syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617711"} ! inherited

[Term]
id: MONDO:0020628
name: microcephaly, growth restriction, and increased sister chromatid exchange 2
subset: gard_rare {source="GARD:18507", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MGRISCE2" RELATED ABBREVIATION [OMIM:618097]
synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 2" EXACT [OMIM:618097]
xref: GARD:18507 {source="MONDO:GARD"}
xref: MEDGEN:1648384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618097 {source="MONDO:equivalentTo", source="Orphanet:508512"}
xref: Orphanet:508512
xref: UMLS:C4748176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648384"}
is_a: MONDO:0020629 {source="OMIM:618097"} ! microcephaly, growth restriction and increased sister chromatid exchange
relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:508512", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin
relationship: has_characteristic HP:0000007 {source="OMIM:618097"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0020629
name: microcephaly, growth restriction and increased sister chromatid exchange
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MGRISCE" EXACT ABBREVIATION []
xref: OMIMPS:210900 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:210900"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:210900"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0020630
name: epileptic encephalopathy, infantile or early childhood, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "developmental and epileptic encephalopathy 91" EXACT [OMIM:617711, OMIM:genemap2]
synonym: "epileptic encephalopathy, infantile or early childhood, 1" EXACT [OMIM:617711]
synonym: "IECEE1" RELATED ABBREVIATION [OMIM:617711]
xref: DOID:0080472 {source="MONDO:equivalentTo"}
xref: MEDGEN:1626137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617711 {source="MONDO:equivalentTo"}
xref: UMLS:C4540199 {source="MEDGEN:1626137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020627 {source="OMIM:617711"} ! epileptic encephalopathy, infantile or early childhood
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020631
name: epileptic encephalopathy, infantile or early childhood, 2
subset: gard_rare {source="GARD:16258", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "developmental and epileptic encephalopathy 92" EXACT [OMIM:617829, OMIM:genemap2]
synonym: "epileptic encephalopathy, infantile or early childhood, 2" EXACT [OMIM:617829]
synonym: "IECEE2" EXACT ABBREVIATION [OMIM:617829]
xref: DOID:0080471 {source="MONDO:equivalentTo"}
xref: GARD:16258 {source="MONDO:GARD"}
xref: MEDGEN:1638319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617829 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:617829"}
xref: UMLS:C4693362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638319"}
is_a: MONDO:0020627 {source="OMIM:617829"} ! epileptic encephalopathy, infantile or early childhood
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020632
name: epileptic encephalopathy, infantile or early childhood, 3
subset: gard_rare {source="GARD:16285", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "developmental and epileptic encephalopathy 93" EXACT [OMIM:618012, OMIM:genemap2]
synonym: "epileptic encephalopathy, infantile or early childhood, 3" EXACT [OMIM:618012]
synonym: "IECEE3" EXACT ABBREVIATION [OMIM:618012]
xref: DOID:0112275 {source="MONDO:equivalentTo"}
xref: GARD:16285 {source="MONDO:GARD"}
xref: MEDGEN:1642888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618012 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:618012"}
xref: UMLS:C4693934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642888"}
is_a: MONDO:0020627 {source="OMIM:618012"} ! epileptic encephalopathy, infantile or early childhood
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020633
name: anaplastic cancer
subset: otar {source="MONDO:OTAR"}
synonym: "anaplastic malignant neoplasm" EXACT [NCIT:C36025]
xref: MEDGEN:231373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36025 {source="MONDO:equivalentTo"}
xref: UMLS:C1332287 {source="MEDGEN:231373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="NCIT:C36025"} ! cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: has_characteristic PATO:0002092 ! anaplastic

[Term]
id: MONDO:0020634
name: grade III meningioma
def: "A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma." [NCIT:C38938]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "grade 3 meningioma" EXACT [NCIT:C38938]
synonym: "grade III meningioma" EXACT [NCIT:C38938]
synonym: "meningioma, malignant" EXACT [NCIT:C38938]
synonym: "WHO grade III meningioma" EXACT [NCIT:C38938]
xref: MEDGEN:79186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38938 {source="MONDO:equivalentTo"}
xref: UMLS:C0280801 {source="MONDO:equivalentTo", source="MEDGEN:79186", source="MONDO:MEDGEN"}
is_a: MONDO:0016642 {source="NCIT:C38938"} ! meningioma
intersection_of: MONDO:0016642 {source="NCIT:C38938"} ! meningioma
intersection_of: has_characteristic MONDO:0024493 {source="NCIT:C38938"} ! tumor grade 3, general grading system

[Term]
id: MONDO:0020635
name: anaplastic meningioma
def: "A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." [NCIT:C4051]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anaplastic (malignant) meningioma" EXACT [NCIT:C4051]
synonym: "anaplastic meningioma" EXACT [NCIT:C4051]
synonym: "malignant meningioma" EXACT [NCIT:C4051]
synonym: "meningioma, anaplastic, malignant" EXACT [NCIT:C4051]
synonym: "meningioma, malignant" RELATED [NCIT:C4051]
xref: ICDO:9530/3 {source="NCIT:C4051"}
xref: MEDGEN:75478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4051 {source="MONDO:equivalentTo", source="ONCOTREE:ANM"}
xref: ONCOTREE:ANM {source="MONDO:equivalentTo"}
xref: UMLS:C0259785 {source="MEDGEN:75478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016743 {source="ONCOTREE:ANM"} ! tumor of meninges
is_a: MONDO:0020633 {source="NCIT:C4051"} ! anaplastic cancer
is_a: MONDO:0020634 {source="NCIT:C4051"} ! grade III meningioma
is_a: MONDO:0021322 {source="NCIT:C4051"} ! malignant tumor of meninges
intersection_of: MONDO:0016642 ! meningioma
intersection_of: has_characteristic PATO:0002092 ! anaplastic

[Term]
id: MONDO:0020636
name: Mendelian susceptibility to mycobacterial diseases due to a complete deficiency
subset: predisposition
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
disjoint_from: MONDO:0020637 ! Mendelian susceptibility to mycobacterial diseases due to a partial deficiency

[Term]
id: MONDO:0020637
name: Mendelian susceptibility to mycobacterial diseases due to a partial deficiency
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: predisposition
is_a: MONDO:0019146 ! inherited susceptibility to mycobacterial diseases
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020638
name: superficial spreading melanoma
def: "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi." [NCIT:C9152]
subset: otar {source="MONDO:OTAR"}
synonym: "cutaneous superficial spreading melanoma" EXACT [NCIT:C9152]
synonym: "pagetoid melanoma" EXACT [NCIT:C9152]
synonym: "SSM" EXACT ABBREVIATION [NCIT:C9152]
synonym: "superficial spreading cutaneous (skin) melanoma" EXACT [NCIT:C9152]
synonym: "superficial spreading malignant melanoma of skin" EXACT [NCIT:C9152]
synonym: "superficial spreading malignant melanoma of the skin" EXACT [NCIT:C9152]
synonym: "superficial spreading malignant skin melanoma" EXACT [NCIT:C9152]
synonym: "superficial spreading melanoma" EXACT [NCIT:C9152]
synonym: "superficial spreading melanoma of skin" EXACT [NCIT:C9152]
synonym: "superficial spreading melanoma of the skin" EXACT [NCIT:C9152]
xref: ICDO:8743/3 {source="NCIT:C9152"}
xref: MEDGEN:87242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9152 {source="MONDO:equivalentTo"}
xref: SCTID:254730000 {source="MONDO:equivalentTo"}
xref: UMLS:C0334438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87242"}
is_a: MONDO:0005012 {source="NCIT:C9152"} ! cutaneous melanoma

[Term]
id: MONDO:0020639
name: monosomy
def: "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number." [NCIT:C3239]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:6432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009006 {source="MONDO:equivalentTo"}
xref: NCIT:C3239 {source="MONDO:relatedTo"}
xref: UMLS:C0026499 {source="MEDGEN:6432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder
is_a: MONDO:0700064 ! aneuploidy
intersection_of: MONDO:0700064 ! aneuploidy
intersection_of: has_characteristic SO:0000056 ! hypoploid

[Term]
id: MONDO:0020640
name: autoimmune encephalitis
def: "Inflammation of the brain secondary to an immune response triggered by the body itself." [NCIT:C122414]
subset: gard_rare {source="GARD:11979", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:622014"}
subset: rare
synonym: "autoimmune encephalitis" EXACT [NCIT:C122414]
xref: GARD:11979 {source="MONDO:GARD"}
xref: NANDO:2100248 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200902 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122414 {source="MONDO:equivalentTo"}
xref: Orphanet:622014 {source="MONDO:equivalentTo"}
xref: SCTID:95643007 {source="MONDO:equivalentTo"}
is_a: MONDO:0007179 {source="NCIT:C122414"} ! autoimmune disease
is_a: MONDO:0019956 {source="NCIT:C122414"} ! encephalitis
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0020641
name: respiratory tract neoplasm
def: "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract." [NCIT:C3355]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355]
synonym: "neoplasm of the respiratory tract" EXACT [NCIT:C3355]
synonym: "neoplasm, respiratory tract" EXACT [MESH:D012142]
synonym: "neoplasms, respiratory tract" EXACT [MESH:D012142]
synonym: "respiratory system neoplasm" EXACT [EFO:0003853]
synonym: "respiratory tract neoplasm" EXACT [MESH:D012142, NCIT:C3355]
synonym: "respiratory tract tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3355]
synonym: "respiratory tract tumour" EXACT OMO:0003005 []
synonym: "tract neoplasm, respiratory" EXACT [MESH:D012142]
synonym: "tract neoplasms, respiratory" EXACT [MESH:D012142]
synonym: "tumor of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355]
synonym: "tumor of the respiratory tract" EXACT [NCIT:C3355]
synonym: "tumour of respiratory tract" EXACT OMO:0003005 []
synonym: "tumour of the respiratory tract" EXACT OMO:0003005 []
xref: EFO:0003853 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C30-C39 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:11200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012142 {source="MONDO:equivalentTo"}
xref: NCIT:C3355 {source="MONDO:equivalentTo"}
xref: SCTID:126667002 {source="MONDO:equivalentTo"}
xref: UMLS:C0035244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11200"}
is_a: MONDO:0005087 {source="MESH:D012142", source="NCIT:C3355"} ! respiratory system disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000065 ! respiratory tract

[Term]
id: MONDO:0020642
name: polycystic kidney disease
def: "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis." [NCIT:C75464]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7419", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibrocystic renal disease" EXACT [NCIT:C75464]
synonym: "PKD - polycystic kidney disease" EXACT [NCIT:C75464]
synonym: "polycystic kidney disease" EXACT [NCIT:C75464, OMIMPS:173900]
xref: DOID:0080322 {source="MONDO:equivalentTo"}
xref: EFO:0008620 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7419 {source="MONDO:GARD"}
xref: MEDGEN:9639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007690 {source="MONDO:equivalentTo"}
xref: NANDO:1200367 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200152 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C75464 {source="MONDO:equivalentTo"}
xref: OMIMPS:173900 {source="DOID:898", source="MONDO:equivalentTo"}
xref: SCTID:82525005 {source="MONDO:equivalentTo"}
xref: UMLS:C0022680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9639"}
is_a: MONDO:0002473 {source="DOID:0080322", source="NCIT:C75464"} ! cystic kidney disease
intersection_of: MONDO:0002473 ! cystic kidney disease
intersection_of: disease_has_feature HP:0000113 ! Polycystic kidney dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:173900"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3532" xsd:anyURI

[Term]
id: MONDO:0020643
name: obsolete autism susceptibility 1
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5919" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800416

[Term]
id: MONDO:0020644
name: lung non-Hodgkin lymphoma
def: "A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma." [NCIT:C5684]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lung non-Hodgkin lymphoma" EXACT [MONDO:patterns/location, NCIT:C5684]
synonym: "lung non-Hodgkin's lymphoma" EXACT [NCIT:C5684]
synonym: "non-Hodgkin lymphoma of lung" EXACT []
synonym: "primary lung non-Hodgkin's lymphoma" EXACT [NCIT:C5684]
xref: MEDGEN:235267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5684 {source="MONDO:equivalentTo"}
xref: UMLS:C1334453 {source="MEDGEN:235267", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003987 {source="NCIT:C5684"} ! lung lymphoma
is_a: MONDO:0018908 {source="NCIT:C5684"} ! non-Hodgkin lymphoma
intersection_of: MONDO:0018908 ! non-Hodgkin lymphoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0020645
name: autosomal dominant osteopetrosis
def: "Autosomal dominant form of osteopetrosis (disease)." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant osteopetrosis (disease)" EXACT []
synonym: "OPTA" EXACT ABBREVIATION []
synonym: "osteopetrosis (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant]
xref: MEDGEN:1378401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129732 {source="MONDO:equivalentTo"}
xref: OMIMPS:607634 {source="MONDO:equivalentTo"}
xref: UMLS:C4272579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378401"}
intersection_of: MONDO:0017198 ! osteopetrosis
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607634"} ! inherited

[Term]
id: MONDO:0020646
name: ocular adnexal lymphoma
def: "A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type." [NCIT:C88145]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "non-Hodgkin lymphoma of ocular adnexa" EXACT []
synonym: "OAL" EXACT ABBREVIATION [NCIT:C88145]
synonym: "ocular adnexa non-Hodgkin lymphoma" EXACT [MONDO:patterns/location]
synonym: "ocular adnexal lymphoma" EXACT [NCIT:C88145]
xref: MEDGEN:453939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C88145 {source="MONDO:equivalentTo"}
xref: UMLS:C2981712 {source="MEDGEN:453939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018908 {source="NCIT:C88145"} ! non-Hodgkin lymphoma
intersection_of: MONDO:0018908 ! non-Hodgkin lymphoma
intersection_of: disease_has_location UBERON:0035639 ! ocular adnexa

[Term]
id: MONDO:0020647
name: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "MFRG" EXACT ABBREVIATION [OMIM:618142]
synonym: "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" EXACT [OMIM:618142]
xref: MEDGEN:1648412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618142 {source="MONDO:equivalentTo"}
xref: UMLS:C4748348 {source="MEDGEN:1648412", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0020648
name: rubella encephalitis
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:536765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:192689006 {source="MONDO:equivalentTo"}
xref: UMLS:C0238099 {source="MEDGEN:536765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: disease_arises_from_feature MONDO:0004656 ! rubella

[Term]
id: MONDO:0020649
name: warty carcinoma of the penis
def: "A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases." [NCIT:C6981]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "condylomatous carcinoma of penis" EXACT [NCIT:C6981]
synonym: "condylomatous carcinoma of the penis" EXACT [NCIT:C6981]
synonym: "condylomatous penile squamous cell carcinoma" EXACT [NCIT:C6981]
synonym: "condylomatous squamous cell carcinoma of penis" EXACT [NCIT:C6981]
synonym: "condylomatous squamous cell carcinoma of the penis" EXACT [NCIT:C6981]
synonym: "squamous cell carcinoma of penis, condylomatous type" EXACT [NCIT:C6981]
synonym: "squamous cell carcinoma of penis, warty type" EXACT [NCIT:C6981]
synonym: "squamous cell carcinoma of the penis, condylomatous type" EXACT [NCIT:C6981]
synonym: "squamous cell carcinoma of the penis, warty type" EXACT [NCIT:C6981]
synonym: "warty carcinoma of penis" EXACT [NCIT:C6981]
synonym: "warty carcinoma of the penis" EXACT [NCIT:C6981]
synonym: "warty penile squamous cell carcinoma" EXACT [NCIT:C6981]
synonym: "warty squamous cell carcinoma of penis" EXACT [NCIT:C6981]
synonym: "warty squamous cell carcinoma of the penis" EXACT [NCIT:C6981]
xref: MEDGEN:234997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6981 {source="MONDO:equivalentTo", source="ONCOTREE:WPSCC"}
xref: ONCOTREE:WPSCC {source="MONDO:equivalentTo"}
xref: UMLS:C1337009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234997"}
is_a: MONDO:0004433 {source="NCIT:C6981"} ! papillary carcinoma of the penis
is_a: MONDO:0018352 {source="ONCOTREE:WPSCC"} ! squamous cell carcinoma of penis
is_a: MONDO:0020656 {source="NCIT:C6981"} ! human papillomavirus-related penile squamous cell carcinoma

[Term]
id: MONDO:0020650
name: germ cell tumor of the vulva
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:925540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: ONCOTREE:VGCT {source="MONDO:equivalentTo"}
xref: UMLS:C4288008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:925540"}
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0020651
name: mixed germ cell tumor of vulva
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: NCIT:C4290 {source="ONCOTREE:VMGCT"}
xref: ONCOTREE:VMGCT {source="MONDO:equivalentTo"}
is_a: MONDO:0020650 {source="ONCOTREE:VMGCT"} ! germ cell tumor of the vulva
intersection_of: MONDO:0015864 ! mixed germ cell tumor
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020652
name: immature teratoma of vulva
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: NCIT:C4286 {source="ONCOTREE:VIMT"}
xref: ONCOTREE:VIMT {source="MONDO:equivalentTo"}
is_a: MONDO:0020650 {source="ONCOTREE:VIMT"} ! germ cell tumor of the vulva
intersection_of: MONDO:0024746 ! immature teratoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020653
name: vaginal adenocarcinoma
def: "An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma." [NCIT:C7981]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenocarcinoma of the vagina" EXACT [NCIT:C7981]
synonym: "adenocarcinoma of vagina" EXACT [NCIT:C7981]
synonym: "vagina adenocarcinoma" EXACT [NCIT:C7981]
synonym: "vaginal adenocarcinoma" EXACT [NCIT:C7981]
xref: MEDGEN:124643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7981 {source="MONDO:equivalentTo", source="ONCOTREE:VA"}
xref: ONCOTREE:VA {source="MONDO:equivalentTo"}
xref: UMLS:C0279668 {source="MEDGEN:124643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001704 {source="NCIT:C7981"} ! vaginal glandular neoplasm
is_a: MONDO:0004970 {source="NCIT:C7981"} ! adenocarcinoma
is_a: MONDO:0015867 {source="NCIT:C7981"} ! vaginal carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0020654
name: renal pelvis/ureter urothelial carcinoma
def: "A transitional cell carcinoma that arises from the renal pelvis and ureter." [NCIT:C7716]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "renal pelvis and ureter TCC" EXACT [NCIT:C7716]
synonym: "renal pelvis and ureter transitional cell cancer" EXACT [NCIT:C7716]
synonym: "renal pelvis and ureter transitional cell carcinoma" EXACT [NCIT:C7716]
synonym: "renal pelvis and ureter urothelial carcinoma" EXACT [NCIT:C7716]
synonym: "TCC of renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "TCC of the renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "transitional cell cancer of renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "transitional cell cancer of the renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "transitional cell carcinoma of renal pelvis and ureter" EXACT [NCIT:C7716]
synonym: "urothelial carcinoma of the renal pelvis and ureter" EXACT [NCIT:C7716]
xref: NCIT:C7716 {source="MONDO:equivalentTo", source="ONCOTREE:UTUC"}
is_a: MONDO:0040679 {source="NCIT:C7716"} ! urothelial carcinoma
intersection_of: MONDO:0040679 ! urothelial carcinoma
intersection_of: disease_has_location UBERON:0036295 ! renal pelvis/ureter

[Term]
id: MONDO:0020655
name: juvenile ankylosing spondylitis
xref: DOID:0040092 {source="MONDO:equivalentTo"}
xref: MEDGEN:592563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:239805001 {source="MONDO:equivalentTo"}
xref: UMLS:C0409675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:592563"}
is_a: MONDO:0000589 {source="DOID:0040092"} ! autoimmune disorder of musculoskeletal system
intersection_of: MONDO:0005306 ! ankylosing spondylitis
intersection_of: has_characteristic HP:0003621 ! Juvenile onset

[Term]
id: MONDO:0020656
name: human papillomavirus-related penile squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma." [NCIT:C27682]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HPV-related penile squamous cell carcinoma" EXACT [NCIT:C27682]
synonym: "human papilloma virus related penile squamous cell carcinoma" EXACT [NCIT:C27682]
synonym: "human papilloma virus-related penile squamous cell carcinoma" EXACT [NCIT:C27682]
synonym: "human papillomavirus-related penile squamous cell carcinoma" EXACT [NCIT:C27682]
xref: MEDGEN:235178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27682 {source="MONDO:equivalentTo"}
xref: UMLS:C1334056 {source="MEDGEN:235178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018352 {source="NCIT:C27682"} ! squamous cell carcinoma of penis
is_a: MONDO:0020657 {source="NCIT:C27682"} ! human papillomavirus-related squamous cell carcinoma
intersection_of: MONDO:0020657 ! human papillomavirus-related squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0020657
name: human papillomavirus-related squamous cell carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPV-related squamous cell carcinoma" EXACT [NCIT:C27683]
synonym: "human papilloma virus related squamous cell carcinoma" EXACT [NCIT:C27683]
synonym: "human papilloma virus-related squamous cell carcinoma" EXACT [NCIT:C27683]
synonym: "human papillomavirus-related squamous cell carcinoma" EXACT [NCIT:C27683]
xref: MEDGEN:272726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27683 {source="MONDO:equivalentTo"}
xref: UMLS:C1334057 {source="MEDGEN:272726", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005096 {source="NCIT:C27683"} ! squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_arises_from_feature MONDO:0005161 ! human papilloma virus infection

[Term]
id: MONDO:0020658
name: infiltrating ureter transitional cell carcinoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:6845 {source="MONDO:equivalentTo"}
xref: NCIT:C39879 {source="DOID:6845"}
is_a: MONDO:0004030 {source="DOID:6845"} ! ureter transitional cell carcinoma
is_a: MONDO:0020654 {source="NCIT:C39879"} ! renal pelvis/ureter urothelial carcinoma
is_a: MONDO:0040678 {source="NCIT:C39879"} ! infiltrating urothelial carcinoma
intersection_of: MONDO:0040678 ! infiltrating urothelial carcinoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0020659
name: upper tract urothelial carcinoma
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0020654 renal pelvis/ureter urothelial carcinoma
subset: gard_rare {source="GARD:9376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:598216"}
subset: orphanet_rare {source="Orphanet:598216"}
subset: rare
synonym: "transitional cell carcinoma of the pelvis and ureter" EXACT [Orphanet:598216]
synonym: "transitional cell carcinoma of the upper urinary tract" EXACT [Orphanet:598216]
synonym: "UTUC" EXACT ABBREVIATION [Orphanet:598216]
xref: GARD:9376 {source="MONDO:GARD"}
xref: MEDGEN:67388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7716 {source="ONCOTREE:UTUC"}
xref: ONCOTREE:UTUC {source="MONDO:equivalentTo"}
xref: Orphanet:598216 {source="MONDO:equivalentTo"}
xref: UMLS:C0220648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67388"}
is_a: MONDO:0020654 {source="NCIT:C7716"} ! renal pelvis/ureter urothelial carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7658" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0020660
name: osteoblastic osteosarcoma
def: "A conventional osteosarcoma characterized by the predominance of osteoid matrix." [NCIT:C53953]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "osteoblastic osteosarcoma" EXACT [NCIT:C53953]
xref: MEDGEN:312376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53953 {source="MONDO:equivalentTo"}
xref: UMLS:C1704328 {source="MEDGEN:312376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002631 {source="NCIT:C53953"} ! conventional osteosarcoma

[Term]
id: MONDO:0020661
name: undifferentiated round cell sarcoma
def: "An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio." [NCIT:C121799]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "undifferentiated round cell sarcoma" EXACT [NCIT:C121799]
xref: MEDGEN:885673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121799 {source="MONDO:equivalentTo"}
xref: UMLS:C4048304 {source="MEDGEN:885673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018078 ! soft tissue sarcoma

[Term]
id: MONDO:0020662
name: borderline ovarian serous tumor
def: "A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion." [NCIT:C5226]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "borderline ovarian serous neoplasm" EXACT [NCIT:C5226]
synonym: "borderline ovarian serous tumor" EXACT [NCIT:C5226]
synonym: "borderline serous neoplasm of ovary" EXACT [NCIT:C5226]
synonym: "borderline serous neoplasm of the ovary" EXACT [NCIT:C5226]
synonym: "borderline serous tumor of ovary" EXACT [NCIT:C5226]
synonym: "borderline serous tumor of the ovary" EXACT [NCIT:C5226]
synonym: "borderline serous tumour of ovary" EXACT OMO:0003005 []
synonym: "borderline serous tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian serous neoplasm of low malignant potential" EXACT [NCIT:C5226]
synonym: "ovarian serous tumor of low malignant potential" EXACT [NCIT:C5226]
synonym: "ovarian serous tumour of low malignant potential" EXACT OMO:0003005 []
synonym: "proliferating ovarian serous neoplasm" EXACT [NCIT:C5226]
synonym: "proliferating ovarian serous tumor" EXACT [NCIT:C5226]
synonym: "proliferating ovarian serous tumour" EXACT OMO:0003005 []
synonym: "proliferating serous neoplasm of ovary" EXACT [NCIT:C5226]
synonym: "proliferating serous neoplasm of the ovary" EXACT [NCIT:C5226]
synonym: "proliferating serous tumor of ovary" EXACT [NCIT:C5226]
synonym: "proliferating serous tumor of the ovary" EXACT [NCIT:C5226]
synonym: "proliferating serous tumour of ovary" EXACT OMO:0003005 []
synonym: "proliferating serous tumour of the ovary" EXACT OMO:0003005 []
synonym: "serous neoplasm of ovary with low malignant potential" EXACT [NCIT:C5226]
synonym: "serous neoplasm of the ovary with low malignant potential" EXACT [NCIT:C5226]
synonym: "serous ovarian neoplasm of low malignant potential" EXACT [NCIT:C5226]
synonym: "serous ovarian tumor of low malignant potential" EXACT [NCIT:C5226]
synonym: "serous ovarian tumour of low malignant potential" EXACT OMO:0003005 []
synonym: "serous tumor of ovary with low malignant potential" EXACT [NCIT:C5226]
synonym: "serous tumor of the ovary with low malignant potential" EXACT [NCIT:C5226]
synonym: "serous tumour of ovary with low malignant potential" EXACT OMO:0003005 []
synonym: "serous tumour of the ovary with low malignant potential" EXACT OMO:0003005 []
xref: EFO:1000139 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:231957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5226 {source="MONDO:equivalentTo"}
xref: UMLS:C1332598 {source="MEDGEN:231957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016093 {source="NCIT:C5226"} ! borderline epithelial tumor of ovary
is_a: MONDO:0037255 {source="NCIT:C5226"} ! ovarian serous tumor
intersection_of: MONDO:0016093 ! borderline epithelial tumor of ovary
intersection_of: MONDO:0037255 ! ovarian serous tumor

[Term]
id: MONDO:0020663
name: malignant spindle cell neoplasm
def: "A malignant neoplasm characterized by the presence of atypical spindle cells." [NCIT:C27091]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant spindle cell neoplasm" EXACT [NCIT:C27091]
synonym: "malignant spindle cell tumor" EXACT [NCIT:C27091]
synonym: "malignant spindle cell tumour" EXACT OMO:0003005 []
synonym: "spindle cell cancer" EXACT [NCIT:C27091]
xref: MEDGEN:90746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27091 {source="MONDO:equivalentTo"}
xref: UMLS:C0334230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90746"}
is_a: MONDO:0020664 {source="NCIT:C27091"} ! spindle cell neoplasm
intersection_of: MONDO:0020664 ! spindle cell neoplasm
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell

[Term]
id: MONDO:0020664
name: spindle cell neoplasm
def: "A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells." [NCIT:C27263]
subset: otar {source="MONDO:OTAR"}
synonym: "spindle cell neoplasm" EXACT [NCIT:C27263]
synonym: "spindle cell tumor" EXACT [NCIT:C27263]
synonym: "spindle cell tumour" EXACT OMO:0003005 []
xref: EFO:0000705 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:234806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27263 {source="MONDO:equivalentTo"}
xref: UMLS:C1336052 {source="MEDGEN:234806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell

[Term]
id: MONDO:0020665
name: high grade malignant neoplasm
synonym: "high grade malignant neoplasm" EXACT [NCIT:C36046]
xref: MEDGEN:234350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36046 {source="MONDO:equivalentTo"}
xref: UMLS:C1334017 {source="MEDGEN:234350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004992 {source="NCIT:C36046"} ! cancer
intersection_of: has_characteristic MONDO:0024497 {source="NCIT:C36046"} ! tumor grade 3 or 4, general grading system

[Term]
id: MONDO:0020666
name: Löfgren syndrome
def: "A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain." [Wikipedia:Löfgren_syndrome]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Loefgrens syndrome" EXACT []
synonym: "Löfgrens syndrome" EXACT []
xref: MEDGEN:573580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238676008 {source="MONDO:equivalentTo"}
xref: UMLS:C0340164 {source="MEDGEN:573580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019338 {source="Wikipedia:L%C3%B6fgren_syndrome"} ! sarcoidosis
relationship: disease_has_feature HP:0002716 ! Lymphadenopathy
relationship: disease_has_feature HP:0002829 ! Arthralgia
relationship: disease_has_feature HP:0012219 ! Erythema nodosum

[Term]
id: MONDO:0020667
name: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
subset: gard_rare {source="GARD:22389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:596008"}
subset: rare
synonym: "ABS2" RELATED ABBREVIATION [OMIM:207410]
synonym: "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" EXACT [OMIM:207410]
synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410]
synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [OMIM:207410]
synonym: "trapezoidocephaly-synostosis Syndrome" RELATED [OMIM:207410]
xref: DOID:0081290 {source="MONDO:equivalentTo"}
xref: GARD:22389 {source="MONDO:GARD"}
xref: MEDGEN:422448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:207410 {source="MONDO:equivalentTo"}
xref: Orphanet:596008 {source="MONDO:equivalentTo"}
xref: Orphanet:83 {source="OMIM:207410"}
xref: UMLS:C2936791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:422448"}
intersection_of: MONDO:0008803 ! Antley-Bixler syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 ! FGFR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2

[Term]
id: MONDO:0020668
name: obsolete spastic paraplegia 5B
synonym: "moved to 270800" RELATED [OMIM:600146]
synonym: "SPG5B" RELATED ABBREVIATION [GARD:0004917]
xref: OMIM:600146 {source="GARD:0004917", source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
replaced_by: MONDO:0010047

[Term]
id: MONDO:0020669
name: paranasal sinus cancer
def: "A primary or metastatic malignant neoplasm involving the paranasal sinuses." [NCIT:C7487]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant accessory sinus neoplasm" EXACT [NCIT:C7487]
synonym: "malignant accessory sinus tumor" EXACT [NCIT:C7487]
synonym: "malignant accessory sinus tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of accessory sinus" EXACT [NCIT:C7487]
synonym: "malignant neoplasm of paranasal sinus" EXACT [NCIT:C7487]
synonym: "malignant neoplasm of the accessory sinus" EXACT [NCIT:C7487]
synonym: "malignant neoplasm of the paranasal sinus" EXACT [NCIT:C7487]
synonym: "malignant paranasal sinus neoplasm" EXACT [NCIT:C7487]
synonym: "malignant paranasal sinus tumor" EXACT [NCIT:C7487]
synonym: "malignant paranasal sinus tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of accessory sinus" EXACT [NCIT:C7487]
synonym: "malignant tumor of paranasal sinus" EXACT [NCIT:C7487]
synonym: "malignant tumor of the accessory sinus" EXACT [NCIT:C7487]
synonym: "malignant tumor of the paranasal sinus" EXACT [NCIT:C7487]
synonym: "malignant tumour of accessory sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of paranasal sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the accessory sinus" EXACT OMO:0003005 []
synonym: "malignant tumour of the paranasal sinus" EXACT OMO:0003005 []
xref: MEDGEN:56305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7487 {source="MONDO:equivalentTo"}
xref: UMLS:C0153474 {source="MEDGEN:56305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005289 {source="NCIT:C7487"} ! paranasal sinus neoplasm
is_a: MONDO:0005627 {source="NCIT:C7487"} ! head and neck cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus

[Term]
id: MONDO:0020670
name: obsolete antithrombin deficiency type 2
comment: Reason: out of scope. Term to consider: heparin cofactor 2 deficiency
synonym: "antithrombin deficiency type 2" EXACT [GARD:0010182]
synonym: "antithrombmin III deficiency Type II" RELATED [GARD:0010182]
synonym: "Inherited antithrombin deficiency type II" RELATED [GARD:0010182]
xref: MESH:C537779 {source="MONDO:obsoleteEquivalent", source="GARD:0010182"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4476" xsd:anyURI
is_obsolete: true
consider: MONDO:0012876

[Term]
id: MONDO:0020671
name: obsolete susceptibility to ischemic stroke
comment: Phenotype and not a disease.
subset: predisposition
synonym: "cerebral infarction" RELATED [OMIM:601367]
synonym: "cerebral infarction, susceptibility to" EXACT [OMIM:601367, OMIM:genemap2]
synonym: "cerebrovascular accident" RELATED [OMIM:601367]
synonym: "ischemic stroke, susceptibility to" EXACT [OMIM:601367, OMIM:genemap2]
synonym: "stroke, ischemic" RELATED [OMIM:601367]
synonym: "stroke, ischemic, susceptibility to" EXACT [OMIM:601367, OMIM:genemap2]
synonym: "stroke, susceptibility to" EXACT [OMIM:601367, OMIM:genemap2]
xref: OMIM:601367 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000423
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2804" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true
consider: HP:0002140

[Term]
id: MONDO:0020672
name: vascular occlusion disorder
def: "A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot." [Wikipedia:Vascular_occlusion]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "vascular occlusion" EXACT [Wikipedia:Vascular_occlusion]
is_a: MONDO:0005385 ! vascular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0020673
name: arterial occlusion
def: "Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart." [NCIT:C35318]
subset: otar {source="MONDO:OTAR"}
synonym: "arterial obstruction" EXACT [NCIT:C35318]
synonym: "arterial occlusion" EXACT [NCIT:C35318]
xref: MEDGEN:78117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35318 {source="MONDO:equivalentTo"}
xref: UMLS:C0264995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78117"}
is_a: MONDO:0000473 {source="NCIT:C35318"} ! arterial disorder
intersection_of: MONDO:0020672 ! vascular occlusion disorder
intersection_of: disease_has_location UBERON:0001637 ! artery

[Term]
id: MONDO:0020674
name: vascular insufficiency disorder
subset: otar {source="MONDO:OTAR"}
synonym: "vascular insufficiency" EXACT []
xref: MEDGEN:534461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:86341008 {source="MONDO:equivalentTo"}
xref: UMLS:C0232352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:534461"}
is_a: MONDO:0005385 ! vascular disorder

[Term]
id: MONDO:0020675
name: ischemic bowel disorder
def: "Disease of the large or small intestine that is caused by inadequate blood supply." [NCIT:C35212]
synonym: "ischaemic bowel disease" EXACT OMO:0003005 []
synonym: "ischemic bowel disease" EXACT [NCIT:C35212]
xref: MEDGEN:412148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35212 {source="MONDO:equivalentTo"}
xref: UMLS:C2004435 {source="MEDGEN:412148", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005053 {source="NCIT:C35212"} ! ischemic disease
is_a: MONDO:0005385 ! vascular disorder
intersection_of: MONDO:0005053 ! ischemic disease
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0020676
name: obsolete disorder of central nervous system or retinal vasculature
synonym: "central nervous system or retinal vascular disease" EXACT []
synonym: "retina/CNS vascular disease" EXACT []
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0005071

[Term]
id: MONDO:0020677
name: sudden hearing loss disorder
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:41426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:79471008 {source="MONDO:equivalentTo"}
xref: UMLS:C0011057 {source="MEDGEN:41426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005365 ! hearing loss disorder
intersection_of: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020678
name: sensorineural hearing loss disorder
def: "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)." [Wikipedia:Sensorineural_hearing_loss]
subset: otar {source="MONDO:OTAR"}
synonym: "neurosensory deafness" RELATED []
synonym: "sensorineural deafness" EXACT [NCIT:C26739]
synonym: "sensorineural hearing loss" EXACT [NCIT:C26739]
synonym: "sensorineural hearing loss disorder" EXACT CLINGEN_LABEL []
synonym: "SNHL" EXACT ABBREVIATION [NCIT:C26739, Wikipedia:Sensorineural_hearing_loss]
xref: DOID:10003 {source="MONDO:equivalentTo"}
xref: EFO:1001176 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000407
xref: MEDGEN:9164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26739 {source="MONDO:equivalentTo"}
xref: SCTID:60700002 {source="MONDO:equivalentTo"}
xref: UMLS:C0018784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9164"}
is_a: MONDO:0005365 {source="NCIT:C26739"} ! hearing loss disorder
intersection_of: MONDO:0005365 ! hearing loss disorder
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0001846 ! internal ear

[Term]
id: MONDO:0020679
name: conductive hearing loss disorder
def: "Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea." [NCIT:C27645]
synonym: "conductive deafness" EXACT [NCIT:C27645]
synonym: "conductive hearing loss" EXACT [NCIT:C27645]
xref: MEDGEN:9163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27645 {source="MONDO:equivalentTo"}
xref: SCTID:44057004 {source="MONDO:equivalentTo"}
xref: UMLS:C0018777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9163"}
is_a: MONDO:0005365 {source="NCIT:C27645"} ! hearing loss disorder
intersection_of: MONDO:0005365 ! hearing loss disorder
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0001756 ! middle ear

[Term]
id: MONDO:0020680
name: acute bronchiolitis
def: "Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus." [NCIT:C39659]
synonym: "acute Bronchiolitis" RELATED [NCIT:C39659]
synonym: "acute bronchiolitis" EXACT [NCIT:C39659, UMLS:C0001311]
synonym: "acute capillary bronchiolitis" RELATED [UMLS:C0001311]
synonym: "Capillary pneumonia" RELATED [UMLS:C0001311]
synonym: "capillary pneumonia" RELATED []
xref: ICD9:466.1
xref: ICD9:466.19
xref: MEDGEN:113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39659 {source="MONDO:equivalentTo", source="UMLS:C0001311"}
xref: SCTID:5505005 {source="MONDO:equivalentTo", source="UMLS:C0001311"}
xref: UMLS:C0001311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113"}
is_a: MONDO:0002465 {source="NCIT:C39659", source="UMLS:C0001311"} ! bronchiolitis
intersection_of: MONDO:0002465 ! bronchiolitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020681
name: Ehlers-Danlos syndrome, musculocontractural type 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome" RELATED [OMIM:601776]
synonym: "adducted thumb-clubfoot syndrome" RELATED [OMIM:601776]
synonym: "Arthrogryposis, Distal, with peculiar facies and hydronephrosis" RELATED [OMIM:601776]
synonym: "Dundar syndrome" RELATED [OMIM:601776]
synonym: "EDSMC" RELATED ABBREVIATION [OMIM:601776]
synonym: "EDSMC1" RELATED ABBREVIATION [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:601776]
synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:601776]
xref: DOID:0080736 {source="MONDO:equivalentTo"}
xref: NCIT:C168975 {source="MONDO:equivalentTo"}
xref: OMIM:601776 {source="MONDO:equivalentTo"}
xref: Orphanet:2953 {source="OMIM:601776"}
is_a: MONDO:0011142 {source="https://orcid.org/0000-0001-5208-3432"} ! Ehlers-Danlos syndrome, musculocontractural type
is_a: MONDO:0020066 {source="OMIM:601776"} ! Ehlers-Danlos syndrome
intersection_of: MONDO:0011142 ! Ehlers-Danlos syndrome, musculocontractural type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24464 ! CHST14
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24464 {source="MONDO:mim2gene_medgen"} ! CHST14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0020682
name: Ehlers-Danlos syndrome, spondylodysplastic type, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dermatan sulfate proteoglycan" EXACT [OMIM:130070]
synonym: "dermatan sulphate proteoglycan" EXACT OMO:0003005 []
synonym: "EDSSPD1" EXACT ABBREVIATION [OMIM:130070]
synonym: "Ehlers-Danlos syndrome with Short stature and Limb anomalies" EXACT [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, progeroid type 1" EXACT CLINGEN_LABEL []
synonym: "Ehlers-Danlos syndrome, progeroid type, 1" EXACT [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, progeroid type, 1, formerly" RELATED [OMIM:130070]
synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1" EXACT [OMIM:130070]
synonym: "galactosyltransferase 1 deficiency" EXACT [OMIM:130070]
synonym: "PDS, defective biosynthesis of" EXACT [OMIM:130070]
synonym: "proteodermatan sulfate, defective biosynthesis of" EXACT [OMIM:130070]
synonym: "XGPT deficiency" EXACT [OMIM:130070]
synonym: "xylosylprotein 4-Beta-galactosyltransferase deficiency" EXACT [OMIM:130070]
xref: DOID:0080738 {source="MONDO:equivalentTo"}
xref: MEDGEN:1646889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:130070 {source="MONDO:equivalentTo"}
xref: Orphanet:75496 {source="OMIM:130070"}
xref: UMLS:C4552003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646889"}
is_a: MONDO:0007526 {source="https://orcid.org/0000-0001-5208-3432"} ! Ehlers-Danlos syndrome, spondylodysplastic type
is_a: MONDO:0020066 {source="OMIM:130070"} ! Ehlers-Danlos syndrome
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0007526 ! Ehlers-Danlos syndrome, spondylodysplastic type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/930 ! B4GALT7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/930 {source="MONDO:mim2gene_medgen"} ! B4GALT7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4025" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0020683
name: acute disease
def: "Disease having a short and relatively severe course." [MESH:D000208]
synonym: "acute disease" EXACT [MESH:D000208, UMLS:C0001314]
synonym: "acute diseases" EXACT [MESH:D000208]
synonym: "disease, acute" EXACT [MESH:D000208]
xref: ICD9:799.89
xref: MEDGEN:1738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000208 {source="MONDO:equivalentTo", source="UMLS:C0001314"}
xref: SCTID:2704003 {source="MONDO:equivalentTo", source="UMLS:C0001314"}
xref: UMLS:C0001314 {source="MEDGEN:1738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020684
name: Ehlers-Danlos syndrome, periodontal type 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EDS 8" RELATED [OMIM:130080]
synonym: "EDSPD1" RELATED ABBREVIATION [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontal type, 1" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontitis type" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [OMIM:130080]
synonym: "Ehlers-Danlos syndrome, type 8" RELATED [OMIM:130080]
xref: DOID:0080986 {source="MONDO:equivalentTo"}
xref: MEDGEN:1642148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:130080 {source="MONDO:equivalentTo"}
xref: Orphanet:75392 {source="OMIM:130080"}
xref: UMLS:C4551499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642148"}
is_a: MONDO:0007527 {source="Orphanet:75392/btnt"} ! Ehlers-Danlos syndrome, periodontitis type
is_a: MONDO:0020066 {source="OMIM:130080"} ! Ehlers-Danlos syndrome
intersection_of: MONDO:0007527 ! Ehlers-Danlos syndrome, periodontitis type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1246 ! C1R
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1246 {source="MONDO:mim2gene_medgen"} ! C1R

[Term]
id: MONDO:0020685
name: infratentorial ependymal tumor
def: "An ependymal tumor arising from the infratentorial region of the brain." [NCIT:C131612]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "infratentorial ependymal tumor" EXACT [NCIT:C131612]
xref: MEDGEN:1385705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131612 {source="MONDO:equivalentTo"}
xref: UMLS:C4330489 {source="MONDO:equivalentTo", source="MEDGEN:1385705", source="MONDO:MEDGEN"}
is_a: MONDO:0004245 {source="NCIT:C131612"} ! ependymal tumor of brain

[Term]
id: MONDO:0020686
name: acute tonsillitis
def: "An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes." [NCIT:C97142]
synonym: "acute adenoiditis" NARROW []
synonym: "acute tonsillitis" EXACT [NCIT:C97142, UMLS:C0001361]
synonym: "infective tonsillitis" RELATED [UMLS:C0001361]
xref: ICD9:463
xref: MEDGEN:472878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97142 {source="UMLS:C0001361", source="MONDO:equivalentTo"}
xref: SCTID:17741008 {source="UMLS:C0001361", source="MONDO:equivalentTo"}
xref: UMLS:C0001361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:472878"}
intersection_of: MONDO:0001039 ! tonsillitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020687
name: supratentorial ependymal tumor
def: "An ependymal tumor arising from the supratentorial region of the brain." [NCIT:C131611]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "supratentorial ependymal tumor" EXACT [NCIT:C131611]
xref: MEDGEN:1379596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131611 {source="MONDO:equivalentTo"}
xref: UMLS:C4331360 {source="MEDGEN:1379596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004245 {source="NCIT:C131611"} ! ependymal tumor of brain

[Term]
id: MONDO:0020688
name: spinal cord ischemia
def: "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue." [MESH:D020760]
subset: otar {source="MONDO:OTAR"}
synonym: "cord ischemia, spinal" RELATED [MESH:D020760]
synonym: "cord Ischemias, spinal" RELATED [MESH:D020760]
synonym: "experimental spinal cord ischemia" RELATED [MESH:D020760]
synonym: "ischaemic myelopathies" RELATED OMO:0003005 []
synonym: "ischaemic myelopathy" RELATED OMO:0003005 []
synonym: "ischemia, spinal cord" RELATED [MESH:D020760]
synonym: "ischemias, spinal cord" RELATED [MESH:D020760]
synonym: "ischemic myelopathies" RELATED [MESH:D020760]
synonym: "ischemic myelopathy" RELATED [MESH:D020760]
synonym: "myelopathies, ischaemic" RELATED OMO:0003005 []
synonym: "myelopathies, ischemic" RELATED [MESH:D020760]
synonym: "myelopathy, ischaemic" RELATED OMO:0003005 []
synonym: "myelopathy, ischemic" RELATED [MESH:D020760]
synonym: "spinal cord ischemia, experimental" RELATED [MESH:D020760]
synonym: "spinal cord Ischemias" RELATED [MESH:D020760]
xref: EFO:1001426 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:155706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020760 {source="MONDO:equivalentTo"}
xref: UMLS:C0752130 {source="MEDGEN:155706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005098 ! stroke disorder

[Term]
id: MONDO:0020689
name: AIDS dementia complex
def: "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" [MESH:D015526]
subset: gard_rare {source="GARD:8250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Acquired immune deficiency syndrome dementia complex" RELATED [EFO:0002608, UMLS:C0001849]
synonym: "acquired immune deficiency syndrome dementia complex" RELATED []
synonym: "Acquired immune deficiency syndrome-related dementia" RELATED [UMLS:C0001849]
synonym: "acquired immune deficiency syndrome-related dementia" RELATED []
synonym: "Acquired-Immune Deficiency Syndrome Dementia Complex" RELATED [MESH:D015526]
synonym: "ADC" RELATED ABBREVIATION [GARD:0008250]
synonym: "ADC - Acquired immune deficiency syndrome dementia complex" RELATED [UMLS:C0001849]
synonym: "AIDS - Acquired immune deficiency syndrome dementia complex" RELATED [UMLS:C0001849]
synonym: "AIDS Dementia" RELATED [NCIT:C2864]
synonym: "AIDS dementia" EXACT [NCIT:C2864]
synonym: "AIDS Dementia Complex" RELATED [MESH:D015526]
synonym: "AIDS dementia complex" EXACT [EFO:0002608]
synonym: "AIDS Encephalopathies" RELATED [MESH:D015526]
synonym: "AIDS Encephalopathy" RELATED [MESH:D015526]
synonym: "AIDS RELAT DEMENTIA COMPLEX" RELATED [MESH:D015526]
synonym: "AIDS related cognitive impairment" RELATED [GARD:0008250]
synonym: "AIDS related Dementia Complex" RELATED [MESH:D015526]
synonym: "AIDS with dementia (disorder)" RELATED [EFO:0002608]
synonym: "AIDS-related Dementia Complex" RELATED [MESH:D015526]
synonym: "Complex, AIDS Dementia" RELATED [MESH:D015526]
synonym: "Complex, AIDS-related Dementia" RELATED [MESH:D015526]
synonym: "Dementia associated with acquired immunodeficiency syndrome" RELATED [UMLS:C0001849]
synonym: "Dementia associated with AIDS" RELATED [UMLS:C0001849]
synonym: "DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME" RELATED [MESH:D015526]
synonym: "DEMENTIA COMPLEX AIDS RELAT" RELATED [MESH:D015526]
synonym: "Dementia Complex, Acquired Immune Deficiency Syndrome" RELATED [MESH:D015526]
synonym: "Dementia Complex, AIDS" RELATED [MESH:D015526]
synonym: "Dementia Complex, AIDS related" RELATED [MESH:D015526]
synonym: "Dementia Complex, AIDS-related" RELATED [MESH:D015526]
synonym: "Dementia, HIV" RELATED [MESH:D015526]
synonym: "Dementias, HIV" RELATED [MESH:D015526]
synonym: "Encephalopathies, AIDS" RELATED [MESH:D015526]
synonym: "Encephalopathies, HIV" RELATED [MESH:D015526]
synonym: "Encephalopathy, AIDS" RELATED [MESH:D015526]
synonym: "Encephalopathy, HIV" RELATED [MESH:D015526]
synonym: "HIV 1 Associated Cognitive Motor Complex" RELATED [MESH:D015526]
synonym: "HIV 1 Cognitive and Motor Complex" RELATED [MESH:D015526]
synonym: "HIV ASSOC COGNITIVE MOTOR COMPLEX" RELATED [MESH:D015526]
synonym: "HIV associated cognitive and motor complex" RELATED [EFO:0002608]
synonym: "HIV Associated Cognitive Motor Complex" RELATED [MESH:D015526]
synonym: "HIV Dementia" RELATED [MESH:D015526]
synonym: "HIV Dementias" RELATED [MESH:D015526]
synonym: "HIV encephalitis" RELATED [EFO:0002608]
synonym: "HIV Encephalopathies" RELATED [MESH:D015526]
synonym: "HIV Encephalopathy" RELATED [MESH:D015526]
synonym: "HIV-1 Cognitive and Motor Complex" RELATED [MESH:D015526]
synonym: "HIV-1-Associated Cognitive Motor Complex" RELATED [MESH:D015526]
synonym: "HIV-Associated Cognitive Motor Complex" RELATED [MESH:D015526]
synonym: "HIV-associated dementia" RELATED [EFO:0002608]
xref: EFO:0002608 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:8250 {source="MONDO:GARD"}
xref: ICD9:294.8
xref: MEDGEN:177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015526 {source="UMLS:C0001849", source="MONDO:equivalentTo"}
xref: NCIT:C2864 {source="UMLS:C0001849", source="MONDO:equivalentTo"}
xref: SCTID:421529006 {source="UMLS:C0001849", source="MONDO:equivalentTo"}
xref: UMLS:C0001849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:177"}
is_a: MONDO:0000001 {source="GARD:0008250"} ! disease
intersection_of: MONDO:0001627 ! dementia
intersection_of: disease_arises_from_feature MONDO:0005109 ! HIV infectious disease
relationship: has_characteristic MONDO:0021136 {source="GARD:0008250"} ! rare

[Term]
id: MONDO:0020690
name: adult glioblastoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult glioblastoma" EXACT [NCIT:C9094]
synonym: "adult glioblastoma multiforme" EXACT [NCIT:C9094]
synonym: "glioblastoma" BROAD [NCIT:C9094]
synonym: "grade IV adult astrocytic neoplasm" EXACT [NCIT:C9094]
synonym: "grade IV adult astrocytic tumor" EXACT [NCIT:C9094]
synonym: "grade IV adult astrocytic tumour" EXACT OMO:0003005 []
xref: MEDGEN:124527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200087 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9094 {source="MONDO:equivalentTo"}
xref: UMLS:C0278878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124527"}
is_a: MONDO:0004320 {source="NCIT:C9094"} ! adult infiltrating astrocytic neoplasm
is_a: MONDO:0018177 {source="NCIT:C9094"} ! glioblastoma
intersection_of: MONDO:0018177 ! glioblastoma
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0020692
name: spondylocostal dysostosis 1, autosomal recessive
subset: gard_rare {source="GARD:10726", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCDO1" RELATED ABBREVIATION [OMIM:277300]
synonym: "spondylocostal dysostosis 1, autosomal recessive" EXACT [OMIM:277300]
synonym: "spondylothoracic dysostosis" RELATED DEPRECATED [OMIM:277300]
synonym: "spondylothoracic dysplasia" RELATED DEPRECATED [OMIM:277300]
synonym: "vertebral anomalies" RELATED [OMIM:277300]
xref: DOID:0112365 {source="MONDO:equivalentTo"}
xref: GARD:10726 {source="MONDO:GARD"}
xref: OMIM:277300 {source="MONDO:equivalentTo"}
xref: Orphanet:2311 {source="OMIM:277300"}
is_a: MONDO:0010180 {source="OMIM:277300"} ! autosomal recessive spondylocostal dysostosis
intersection_of: MONDO:0000359 ! spondylocostal dysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2909 ! DLL3
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0020693
name: glycogen storage disease due to liver phosphorylase kinase deficiency
def: "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:264580]
subset: gard_rare {source="GARD:17261", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:264580"}
subset: orphanet_rare {source="Orphanet:264580"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17261 {source="MONDO:GARD"}
xref: ICD10CM:E74.0 {source="Orphanet:264580"}
xref: MEDGEN:453209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:264580 {source="MONDO:equivalentTo"}
xref: UMLS:C2012260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:453209"}
is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism
relationship: disease_disrupts GO:0004689 ! phosphorylase kinase activity
relationship: disease_has_location UBERON:0002107 ! liver
relationship: excluded_subClassOf MONDO:0005066 {source="Orphanet:264580", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0020694
name: salivary gland epithelial myoepithelial carcinoma
def: "A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells." [NCIT:C35701]
synonym: "salivary gland epithelial myoepithelial carcinoma" EXACT [NCIT:C35701]
xref: MEDGEN:234769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35701 {source="MONDO:equivalentTo"}
xref: UMLS:C1335900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234769"}
is_a: MONDO:0000521 {source="NCIT:C35701"} ! salivary gland carcinoma
is_a: MONDO:0003389 {source="NCIT:C35701"} ! epithelial-myoepithelial carcinoma
intersection_of: MONDO:0003389 ! epithelial-myoepithelial carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0020695
name: hypotonic cerebral palsy
def: "A type of cerebral palsy characterized by decreased muscle tone." [NCIT:C116906]
synonym: "hypotonic cerebral palsy" EXACT [NCIT:C116906]
xref: MEDGEN:98296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116906 {source="MONDO:equivalentTo"}
xref: SCTID:192958009 {source="MONDO:equivalentTo"}
xref: UMLS:C0394007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98296"}
is_a: MONDO:0006497 {source="NCIT:C116906"} ! cerebral palsy
relationship: disease_has_feature HP:0001252 ! Hypotonia

[Term]
id: MONDO:0020696
name: vitamin B12 deficiency
def: "A disease characterized by low serum levels of vitamin B12, either inherited or acquired." [https://orcid.org/0000-0002-6601-2165, PMID:16846473]
subset: otar {source="MONDO:OTAR"}
synonym: "cobalamin deficiency" EXACT []
synonym: "hypocobalaminemia" EXACT [NCIT:C131684]
synonym: "vitamin b12 deficiency" EXACT [NCIT:C131684]
xref: EFO:0000734 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0100502 {source="MONDO:otherHierarchy"}
xref: ICD9:266.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:21880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014806 {source="MONDO:equivalentTo"}
xref: NCIT:C131684 {source="MONDO:equivalentTo"}
xref: SCTID:190634004 {source="MONDO:equivalentTo"}
xref: UMLS:C0042847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21880"}
is_a: MONDO:0042976 {source="NCIT:C131684"} ! vitamin B deficiency
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:0009235 ! cobalamin metabolic process
relationship: disease_has_feature HP:0100502 ! Decreased circulating vitamin B12 concentration

[Term]
id: MONDO:0020697
name: lung epithelial-myoepithelial carcinoma
def: "A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative." [NCIT:C45545]
synonym: "lung epithelial-myoepithelial cancer" EXACT [NCIT:C45545]
synonym: "lung epithelial-myoepithelial carcinoma" EXACT [NCIT:C45545]
xref: MEDGEN:353868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45545 {source="MONDO:equivalentTo"}
xref: UMLS:C1708770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:353868"}
is_a: MONDO:0003389 {source="NCIT:C45545"} ! epithelial-myoepithelial carcinoma
is_a: MONDO:0005138 {source="NCIT:C45545"} ! lung carcinoma
intersection_of: MONDO:0003389 ! epithelial-myoepithelial carcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0020698
name: inborn error of biotin metabolism
subset: gard_rare {source="MONDO:GARD"}
subset: rare
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006768 ! biotin metabolic process

[Term]
id: MONDO:0020699
name: biotin metabolic disease
def: "A deficiency in biotin through either inherited or acquired causes." [PMID:12459313, Wikipedia:Biotin_deficiency]
xref: MEDGEN:754289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2937225 {source="MEDGEN:754289", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:0006768 ! biotin metabolic process

[Term]
id: MONDO:0020700
name: obsolete microcephaly, short stature, and impaired glucose metabolism
is_obsolete: true
replaced_by: MONDO:0000208

[Term]
id: MONDO:0020701
name: brachydactyly type A1A
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDA1" RELATED ABBREVIATION [OMIM:112500]
synonym: "BRACHYDACTYLY, type A1" RELATED [OMIM:112500]
synonym: "Farabee-type Brachydactyly" RELATED [OMIM:112500]
xref: Orphanet:93388 {source="OMIM:112500"}
is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5956 {source="MONDO:mim2gene_medgen"} ! IHH

[Term]
id: MONDO:0020702
name: autosomal dominant epidermolytic ichthyosis
subset: gard_rare {source="GARD:1039", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:312"}
subset: orphanet_rare {source="Orphanet:312"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:1039 {source="MONDO:GARD"}
xref: NANDO:1200611 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200988 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C62569 {source="MONDO:equivalentTo"}
xref: Orphanet:312 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0007239 ! epidermolytic ichthyosis
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7141" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI

[Term]
id: MONDO:0020703
name: erythroid neoplasm
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "erythroid neoplasm" EXACT [NCIT:C7064]
synonym: "erythroid tumor" EXACT [NCIT:C7064]
synonym: "erythroid tumour" EXACT OMO:0003005 []
xref: MEDGEN:272584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7064 {source="MONDO:equivalentTo"}
xref: UMLS:C1333438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272584"}
is_a: MONDO:0005170 {source="NCIT:C7064"} ! myeloid neoplasm
is_a: MONDO:0021138 {source="NCIT:C7064"} ! bone marrow cancer

[Term]
id: MONDO:0020704
name: inherited rippling muscle disease
def: "A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." [https://orcid.org/0000-0001-5208-3432, Orphanet:97238]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "rippling muscle disease" BROAD [MONDO:Lexical, OMIM:606072]
synonym: "RMD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:606072]
xref: ICD10CM:G71.8 {source="Orphanet:97238"}
xref: MedDRA:10069417 {source="Orphanet:97238"}
xref: MESH:C535685 {source="Orphanet:97238"}
xref: Orphanet:97238
intersection_of: MONDO:0011634 ! rippling muscle disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0016146 {source="Orphanet:97238", source="https://orcid.org/0000-0001-5208-3432", source="https://www.ncbi.nlm.nih.gov/books/NBK1385/"} ! caveolinopathy

[Term]
id: MONDO:0020705
name: neural tube defects, susceptibility to
subset: predisposition
synonym: "neural tube defects" EXACT [OMIM:182940, OMIM:genemap2]
synonym: "neural tube defects, SUSCEPTIBILITY to" RELATED [OMIM:182940]
synonym: "NTD" RELATED ABBREVIATION [OMIM:182940]
synonym: "spina bifida" RELATED [OMIM:182940]
synonym: "spina bifida, susceptibility to" EXACT [OMIM:182940, OMIM:genemap2]
xref: MEDGEN:856010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:182940 {source="MONDO:equivalentTo"}
xref: Orphanet:268357 {source="OMIM:182940"}
xref: Orphanet:823 {source="OMIM:182940"}
xref: UMLS:C3891448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:856010"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0018075 ! neural tube defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020706
name: Heberden's node
def: "Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis." [NCIT:C34671]
synonym: "Heberden's node" EXACT [NCIT:C34671]
synonym: "tuberculum arthriticum" EXACT [NCIT:C34671]
xref: MEDGEN:6761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34671 {source="MONDO:equivalentTo"}
xref: SCTID:239869009 {source="MONDO:equivalentTo"}
xref: UMLS:C0018862 {source="MEDGEN:6761", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002181 {source="NCIT:C34671"} ! exostosis

[Term]
id: MONDO:0020707
name: central hearing loss
def: "Hearing loss resulting from disorders of the central nervous system auditory pathways." [NCIT:C34662]
synonym: "central hearing loss" EXACT [NCIT:C34662]
xref: MEDGEN:9162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34662 {source="MONDO:equivalentTo"}
xref: UMLS:C0018776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9162"}
is_a: MONDO:0005365 {source="NCIT:C34662"} ! hearing loss disorder
intersection_of: MONDO:0005365 ! hearing loss disorder
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0020708
name: brachial amyotrophic diplegia
def: "A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction." [NCIT:C133085]
synonym: "BAD" BROAD AMBIGUOUS [NCIT:C133085]
synonym: "brachial amyotrophic diplegia" EXACT [NCIT:C133085]
synonym: "FAS" EXACT ABBREVIATION [PMID:26056822, PMID:26705123]
synonym: "flail arm syndrome" EXACT [PMID:26056822, PMID:26705123]
synonym: "man-in-barrel syndrome" EXACT [PMID:26056822, PMID:26705123]
xref: MEDGEN:1617621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C133085 {source="MONDO:equivalentTo"}
xref: UMLS:C4522181 {source="MEDGEN:1617621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="NCIT:C133085"} ! neurodegenerative disease

[Term]
id: MONDO:0020709
name: Majocchi granuloma
def: "An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities." [doi:10.2147/IDR.S145027]
synonym: "Majocchi's granuloma" EXACT [doi:10.2147/IDR.S145027]
is_a: MONDO:0004678 ! dermatophytosis

[Term]
id: MONDO:0020710
name: amnionitis
def: "Inflammation of the amnion." [NCIT:C50459]
synonym: "amnionitides" RELATED [MESH:D002821]
synonym: "amnionitis" EXACT [MESH:D002821, NCIT:C50459]
synonym: "amniotic cavity infection" RELATED [UMLS:C0002631]
synonym: "amniotic infection syndrome" NARROW [PMID:13801291]
synonym: "Infection of amniotic cavity" RELATED [UMLS:C0002631]
synonym: "infection of amniotic cavity" EXACT []
xref: ICD9:658.40
xref: MEDGEN:1490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002821 {source="UMLS:C0002631"}
xref: NCIT:C50459 {source="MONDO:equivalentTo", source="UMLS:C0002631"}
xref: SCTID:10573002 {source="MONDO:equivalentTo", source="UMLS:C0002631"}
xref: UMLS:C0002631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1490"}
is_a: MONDO:0045013 ! disorder of extraembryonic membrane
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000305 ! amnion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2016" xsd:anyURI

[Term]
id: MONDO:0020711
name: selective peripheral resistance to thyroid hormone
def: "A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary." [https://orcid.org/0000-0002-6601-2165, PMID:8475937]
subset: gard_rare {source="MONDO:GARD"}
subset: mondo_rare {source="PMID:8475937"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PerRTH" EXACT [PMID:8475937]
is_a: MONDO:0001328 {source="PMID:8475937"} ! thyroid hormone resistance syndrome
relationship: has_characteristic MONDO:0021136 {source="PMID:8475937"} ! rare

[Term]
id: MONDO:0020712
name: 46,XY sex reversal 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XY gonadal dysgenesis, complete, SRY-related" EXACT [OMIM:400044]
synonym: "46,XY sex reversal 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:400044]
synonym: "46,XY sex reversal type 1" EXACT [MONDORULE:1, OMIM:400044]
synonym: "46,XY sex reversal, SRY-related" EXACT [OMIM:400044]
synonym: "46,XY true hermaphroditism, SRY-related" EXACT [OMIM:400044]
synonym: "46XY sex reversal 1, Y-linked" EXACT [OMIM:400044, OMIM:genemap2]
synonym: "SRXY1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:400044]
xref: DOID:0111778 {source="MONDO:equivalentTo"}
xref: MEDGEN:412662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128188 {source="MONDO:equivalentTo"}
xref: OMIM:400044 {source="MONDO:equivalentTo"}
xref: UMLS:C2748896 {source="MEDGEN:412662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010765 ! 46,XY complete gonadal dysgenesis
intersection_of: MONDO:0010765 {source="MONDO:mim2gene_medgen"} ! 46,XY complete gonadal dysgenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen"} ! SRY
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen"} ! SRY
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020713
name: pulmonary venoocclusive disease 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pulmonary venoocclusive disease 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:265450]
synonym: "PVOD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:265450]
xref: DOID:0081268 {source="MONDO:equivalentTo"}
xref: MEDGEN:854500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:265450 {source="MONDO:equivalentTo"}
xref: UMLS:C3887658 {source="MEDGEN:854500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0009937 ! pulmonary venoocclusive disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 ! BMPR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 {source="MONDO:mim2gene_medgen"} ! BMPR2

[Term]
id: MONDO:0020714
name: mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1679560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:251900 {source="MONDO:equivalentTo"}
xref: UMLS:C5193223 {source="MEDGEN:1679560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0009637 ! inborn mitochondrial myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30546 ! FDX2

[Term]
id: MONDO:0020715
name: multiple system atrophy 1, susceptibility to
synonym: "MSA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146500]
synonym: "MSA1, susceptibility to" EXACT [OMIM:146500]
synonym: "multiple system atrophy 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:146500]
synonym: "multiple system atrophy, susceptibility to" EXACT [OMIM:146500, OMIM:genemap2]
xref: MEDGEN:811503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:146500 {source="MONDO:equivalentTo"}
xref: UMLS:C3714927 {source="MEDGEN:811503", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 {source="MONDO:mim2gene_medgen"} ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25223 {source="MONDO:mim2gene_medgen"} ! COQ2
intersection_of: predisposes_towards MONDO:0007803 {source="MONDO:mim2gene_medgen"} ! multiple system atrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020716
name: familial thyroid dyshormonogenesis 1
subset: gard_rare {source="GARD:18188", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 1" EXACT [OMIM:274400]
synonym: "iodine accumulation, transport, or trapping defect" EXACT [OMIM:274400]
synonym: "TDH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274400]
synonym: "thyroid dyshormonogenesis 1" EXACT [MONDO:Lexical, OMIM:274400]
synonym: "thyroid dyshormonogenesis type 1" EXACT [MONDORULE:1, OMIM:274400]
synonym: "thyroid hormonogenesis, genetic defect in, 1" EXACT [OMIM:274400]
xref: DOID:0112185 {source="MONDO:equivalentTo"}
xref: GARD:18188 {source="MONDO:GARD"}
xref: MEDGEN:336422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:274400 {source="MONDO:equivalentTo"}
xref: Orphanet:95716
xref: UMLS:C1848805 {source="MEDGEN:336422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010132 {source="https://orcid.org/0000-0001-5208-3432"} ! familial thyroid dyshormonogenesis
intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11040 ! SLC5A5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11040 {source="MONDO:mim2gene_medgen"} ! SLC5A5

[Term]
id: MONDO:0020717
name: autosomal dominant wooly hair
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ADWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194300]
synonym: "woolly hair, autosomal dominant" EXACT OMO:0003005 []
synonym: "wooly hair, autosomal dominant" EXACT [OMIM:194300, OMIM:genemap2]
xref: DOID:0111573 {source="MONDO:equivalentTo"}
xref: MEDGEN:348571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:194300 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"}
xref: UMLS:C1860238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348571"}
is_a: MONDO:0008686 ! isolated familial wooly hair disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 {source="MONDO:mim2gene_medgen"} ! KRT74
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020718
name: congenital short bowel syndrome, autosomal recessive
subset: gard_rare {source="GARD:18585", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital short bowel syndrome" BROAD [MONDO:Lexical, OMIM:615237, OMIM:genemap2]
synonym: "congenital short bowel syndrome 1" EXACT CLINGEN_LABEL []
synonym: "congenital short bowel syndrome due to CLMP variation" EXACT [https://orcid.org/0000-0001-5493-2602]
synonym: "CSBS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615237]
xref: GARD:18585 {source="MONDO:GARD"}
xref: OMIM:615237 {source="MONDO:equivalentTo"}
xref: Orphanet:2301 {source="OMIM:615237"}
is_a: MONDO:0014097 {source="MONDO:prototype"} ! congenital short bowel syndrome
intersection_of: MONDO:0014097 ! congenital short bowel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24039 ! CLMP
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24039 {source="MONDO:mim2gene_medgen"} ! CLMP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4921" xsd:anyURI

[Term]
id: MONDO:0020719
name: obsolete susceptibility to Hirschsprung disease
synonym: "HSCR" RELATED ABBREVIATION []
is_obsolete: true
replaced_by: MONDO:0018309

[Term]
id: MONDO:0020720
name: X-linked hypophosphatemic rickets
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "X-linked hypophosphatemic rickets" EXACT CLINGEN_LABEL []
synonym: "X-linked hypophosphatemic rickets (recessive or dominant)" EXACT [https://orcid.org/0000-0001-5493-2602]
xref: MEDGEN:761927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053098 {source="MONDO:equivalentTo"}
xref: NCIT:C123265 {source="MONDO:equivalentObsolete"}
xref: UMLS:C3540852 {source="MEDGEN:761927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2844" xsd:anyURI

[Term]
id: MONDO:0020721
name: X-linked sideroblastic anemia 1
subset: gard_rare {source="GARD:9456", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:75563"}
subset: orphanet_rare {source="Orphanet:75563"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaemia hereditary sideroblastic" RELATED OMO:0003005 []
synonym: "anaemia sex-linked hypochromic sideroblastic" RELATED OMO:0003005 []
synonym: "anemia hereditary sideroblastic" RELATED [GARD:0009456]
synonym: "anemia sex-linked hypochromic sideroblastic" RELATED [GARD:0009456]
synonym: "anemia, hereditary sideroblastic" RELATED [OMIM:300751]
synonym: "anemia, hypochromic" RELATED [OMIM:300751]
synonym: "anemia, sideroblastic, 1" RELATED [OMIM:300751]
synonym: "anemia, sideroblastic, 1, X-linked recessive" EXACT [OMIM:300751, OMIM:genemap2]
synonym: "anemia, sideroblastic, X-linked" RELATED [MONDO:Lexical, OMIM:300751]
synonym: "ANH1" RELATED ABBREVIATION [GARD:0009456]
synonym: "erythroid 5-aminolevulinate synthase deficiency" RELATED [GARD:0009456]
synonym: "hereditary iron-loading Anaemia" RELATED OMO:0003005 []
synonym: "hereditary iron-loading Anemia" RELATED [OMIM:300751]
synonym: "SIDBA1" RELATED ABBREVIATION [OMIM:300751]
synonym: "sideroblastic anaemia X-linked" RELATED OMO:0003005 []
synonym: "sideroblastic anemia X-linked" RELATED [GARD:0009456]
synonym: "sideroblastic anemia, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X chromosome-linked sideroblastic anaemia" RELATED OMO:0003005 []
synonym: "X chromosome-linked sideroblastic anemia" RELATED [GARD:0009456]
synonym: "X-linked sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "X-linked sideroblastic anemia" EXACT [MONDO:0010419]
synonym: "XLSA" EXACT ABBREVIATION [DOID:0060063, MONDO:Lexical, OMIM:300751, Orphanet:75563]
xref: DOID:0060063 {source="MONDO:equivalentTo"}
xref: GARD:9456 {source="MONDO:GARD"}
xref: ICD10CM:D64.0 {source="Orphanet:75563", source="Orphanet:75563/attributed", source="Orphanet:75563/ntbt"}
xref: MEDGEN:1638704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536761 {source="Orphanet:75563", source="MONDO:equivalentTo", source="Orphanet:75563/e"}
xref: OMIM:300751 {source="Orphanet:75563", source="MONDO:equivalentTo", source="Orphanet:75563/e", source="DOID:0060063"}
xref: Orphanet:75563 {source="MONDO:equivalentTo", source="OMIM:300751"}
xref: SCTID:62677000 {source="MONDO:equivalentTo"}
xref: UMLS:C4551511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638704"}
is_a: MONDO:0000425 {source="MESH:C536761", source="MONDO:Entailed", source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0015194 {source="DOID:0060063", source="MESH:C536761", source="MONDO:Redundant", source="OMIM:300751", source="Orphanet:75563/inferred"} ! sideroblastic anemia
is_a: MONDO:0017754 {source="Orphanet:75563"} ! inborn disorder of porphyrin metabolism
is_a: MONDO:0020099 {source="Orphanet:75563"} ! inherited sideroblastic anemia
intersection_of: MONDO:0015194 ! sideroblastic anemia
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/397 ! ALAS2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/397 {source="MONDO:mim2gene_medgen"} ! ALAS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020722
name: nephrolithiasis susceptibility caused by SLC26A1
synonym: "CAON" RELATED ABBREVIATION [OMIM:167030]
synonym: "nephrolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030]
synonym: "urolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030]
xref: DOID:0080652 {source="MONDO:equivalentTo"}
xref: MEDGEN:1830325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:167030 {source="MONDO:equivalentTo", source="DOID:585"}
xref: UMLS:C5779632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830325"}
is_a: MONDO:0957318 {source="OMIM:167030"} ! nephrolithiasis, calcium oxalate
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10993 ! SLC26A1
intersection_of: predisposes_towards MONDO:0008171 ! nephrolithiasis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10993 {source="MONDO:mim2gene_medgen"} ! SLC26A1

[Term]
id: MONDO:0020723
name: vitamin D-dependent rickets, type 1A
subset: gard_rare {source="GARD:18636", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:264700]
synonym: "1-Alpha-Hydroxylase deficiency" RELATED [OMIM:264700]
synonym: "25-hydroxycholecalciferol-1-Hydroxylase deficiency" RELATED [OMIM:264700]
synonym: "PDDR 1A" RELATED [OMIM:264700]
synonym: "pseudovitamin D-deficiency rickets, type 1A" RELATED [OMIM:264700]
synonym: "VDDR1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264700]
synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700]
synonym: "vitamin D hydroxylation-deficient rickets, type 1A" RELATED [MONDO:Lexical, OMIM:264700]
synonym: "vitamin D-dependent rickets, type 1A" EXACT [OMIM:264700]
synonym: "vitamin D-dependent rickets, type I" EXACT [OMIM:264700, OMIM:genemap2]
xref: DOID:0080886 {source="MONDO:equivalentTo"}
xref: GARD:18636 {source="MONDO:GARD"}
xref: OMIM:264700 {source="Orphanet:289157", source="MONDO:equivalentTo", source="Orphanet:289157/e"}
xref: Orphanet:289157 {source="OMIM:264700"}
is_a: MONDO:0005520 {source="DC-OMIM:264700", source="MESH:C562688/inferred", source="MONDO:Redundant"} ! rickets
is_a: MONDO:0009924 {source="MONDO:prototype"} ! vitamin D-dependent rickets, type 1
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0024299 ! vitamin D-dependent rickets
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2606 ! CYP27B1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2606 {source="MONDO:mim2gene_medgen"} ! CYP27B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0020724
name: cerebral cavernous malformation 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cavernous angioma, familial" RELATED [OMIM:116860]
synonym: "cavernous angiomatous malformations" RELATED [OMIM:116860]
synonym: "cavernous malformations of CNS and retina" RELATED [OMIM:116860]
synonym: "CCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:116860]
synonym: "cerebral capillary malformations" RELATED [OMIM:116860]
synonym: "cerebral cavernous malformation 1" EXACT CLINGEN_LABEL []
synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical, OMIM:116860]
synonym: "cerebral cavernous malformations 1" RELATED [OMIM:116860]
synonym: "cerebral cavernous malformations-1" EXACT [OMIM:116860, OMIM:genemap2]
synonym: "familial cerebral cavernous malformation 1" EXACT [Orphanet:221061]
synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860]
xref: DOID:0080491 {source="MONDO:equivalentTo"}
xref: MEDGEN:237128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:116860 {source="Orphanet:221061/e", source="MONDO:equivalentTo", source="Orphanet:221061"}
xref: Orphanet:221061 {source="OMIM:116860"}
xref: UMLS:C1366911 {source="MONDO:equivalentTo", source="MEDGEN:237128", source="MONDO:MEDGEN"}
is_a: MONDO:0031037 {source="MONDO:prototype"} ! famililal cerebral cavernous malformations
intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1573 ! KRIT1
relationship: excluded_subClassOf MONDO:0000820 {source="DC-OMIM:116860", source="MONDO:Entailed", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral cavernous malformation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1573 {source="MONDO:mim2gene_medgen"} ! KRIT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020725
name: anemia due to chronic disorder
def: "Anemia due to a disorder that is persistent or long-standing in nature." [NCIT:C35659]
synonym: "anaemia due to Chronic Disorder" RELATED OMO:0003005 []
synonym: "anaemia of chronic disease" EXACT OMO:0003005 []
synonym: "anaemia of chronic disorder" RELATED OMO:0003005 []
synonym: "anaemia of chronic illness" EXACT OMO:0003005 []
synonym: "anaemia of chronic inflammation" EXACT OMO:0003005 []
synonym: "anaemia of systemic disease" RELATED OMO:0003005 []
synonym: "anemia due to Chronic Disorder" RELATED [NCIT:C35659]
synonym: "anemia due to chronic disorder" EXACT [NCIT:C35659]
synonym: "anemia of chronic disease" EXACT [NCIT:C35659, UMLS:C0002873]
synonym: "anemia of chronic disorder" RELATED [UMLS:C0002873]
synonym: "anemia of chronic illness" EXACT [NCIT:C35659]
synonym: "anemia of chronic inflammation" EXACT [NCIT:C35659]
synonym: "anemia of systemic disease" RELATED [UMLS:C0002873]
synonym: "Secondary anaemia" RELATED OMO:0003005 []
synonym: "Secondary anemia" RELATED [UMLS:C0002873]
xref: ICD9:285.29
xref: MEDGEN:507442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35659 {source="MONDO:equivalentTo", source="UMLS:C0002873"}
xref: SCTID:234347009 {source="MONDO:equivalentTo", source="UMLS:C0002873"}
xref: UMLS:C0002873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507442"}
is_a: MONDO:0002280 {source="NCIT:C35659"} ! anemia

[Term]
id: MONDO:0020726
name: tubulointerstitial kidney disease, autosomal dominant, 2
def: "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function." [GARD:0007002]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7002", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:88949"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ADMCKD1" RELATED ABBREVIATION [GARD:0007002]
synonym: "ADTKD-MUC1" EXACT [Orphanet:88949, PMID:25738250]
synonym: "autosomal dominant medullary cystic kidney disease without hyperuricemia" EXACT [MONDO:0019510]
synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1" EXACT [PMID:25738250]
synonym: "Mckd" RELATED [OMIM:174000]
synonym: "MCKD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:174000]
synonym: "medullary cystic kidney disease 1" EXACT [MONDO:Lexical, OMIM:174000]
synonym: "medullary cystic kidney disease type 1" EXACT [MONDORULE:1, OMIM:174000]
synonym: "medullary cystic kidney disease, autosomal dominant" EXACT [OMIM:174000]
synonym: "MUC1-related autosomal dominant medullary cystic kidney disease" EXACT [Orphanet:88949]
synonym: "MUC1-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88949]
synonym: "MUCI-related ADTKD" EXACT [Orphanet:88949]
synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000]
xref: GARD:7002 {source="MONDO:GARD"}
xref: ICD10CM:Q61.5 {source="Orphanet:88949/attributed", source="Orphanet:88949/ntbt", source="Orphanet:88949"}
xref: MEDGEN:358137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123171 {source="MONDO:equivalentTo"}
xref: OMIM:174000 {source="Orphanet:34149", source="MONDO:equivalentTo", source="Orphanet:34149/e", source="GARD:0010801"}
xref: Orphanet:34149 {source="OMIM:174000", source="GARD:0010801"}
xref: Orphanet:88949 {source="MONDO:equivalentTo"}
xref: UMLS:C1868139 {source="MEDGEN:358137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000608 {source="OMIM:174000"} ! familial juvenile hyperuricemic nephropathy
is_a: MONDO:0008264 {source="MONDO:prototype", source="Orphanet:88949"} ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
intersection_of: MONDO:0008264 ! autosomal dominant medullary cystic kidney disease with or without hyperuricemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7508 ! MUC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7508 {source="MONDO:mim2gene_medgen", source="Orphanet:88949"} ! MUC1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations" xsd:anyURI {source="GARD:0007002"}

[Term]
id: MONDO:0020727
name: combined oxidative phosphorylation deficiency 22
subset: gard_rare {source="MONDO:GARD"}
subset: n_of_one
subset: rare
synonym: "combined oxidative phosphorylation deficiency 22" EXACT [MONDO:Lexical, OMIM:616045]
synonym: "combined oxidative phosphorylation deficiency type 22" RELATED [MONDORULE:2, OMIM:616045]
synonym: "COXPD22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616045]
xref: DOID:0111498 {source="MONDO:equivalentTo"}
xref: MEDGEN:863499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616045 {source="Orphanet:254913/w", source="MONDO:equivalentTo", source="Orphanet:254913"}
xref: Orphanet:254913 {source="OMIM:616045"}
xref: UMLS:C4015062 {source="MEDGEN:863499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="DC-OMIM:616045", source="OMIM:616045"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0014471 {source="MONDO:prototype"} ! mitochondrial proton-transporting ATP synthase complex deficiency
intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/823 ! ATP5F1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/823 {source="MONDO:mim2gene_medgen"} ! ATP5F1A

[Term]
id: MONDO:0020728
name: hypouricemia, renal 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150]
synonym: "hypouricemia, renal, 1" RELATED [MONDO:Lexical, OMIM:220150]
synonym: "hypouricemia, renal, type 1" RELATED [MONDORULE:1, OMIM:220150]
synonym: "renal hypouricemia" RELATED [OMIM:220150]
synonym: "RHUC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220150]
xref: MEDGEN:141632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:220150 {source="Orphanet:94088", source="MONDO:equivalentTo", source="Orphanet:94088/e"}
xref: Orphanet:94088 {source="OMIM:220150"}
xref: UMLS:C0473219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141632"}
is_a: MONDO:0009071 {source="MONDO:prototype"} ! hereditary renal hypouricemia
is_a: MONDO:0968951 {source="OMIM:220150"} ! hypouricemia, renal
intersection_of: MONDO:0009071 ! hereditary renal hypouricemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17989 ! SLC22A12
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17989 {source="MONDO:mim2gene_medgen"} ! SLC22A12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020729
name: autosomal recessive agammaglobulinemia 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "agammaglobulinemia 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:601495]
synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495]
synonym: "AGM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601495]
synonym: "autosomal recessive agammaglobulinemia 1" EXACT CLINGEN_LABEL []
xref: DOID:0081136 {source="MONDO:equivalentTo"}
xref: MEDGEN:463494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601495 {source="Orphanet:33110/e", source="MONDO:equivalentTo", source="Orphanet:33110"}
xref: Orphanet:229717 {source="OMIM:601495"}
xref: Orphanet:33110 {source="OMIM:601495"}
xref: UMLS:C3152144 {source="MEDGEN:463494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011096 {source="MONDO:prototype"} ! autosomal agammaglobulinemia
is_a: MONDO:0015977 {source="MESH:C538056", source="MONDO:Redundant", source="OMIM:601495", source="Orphanet:33110/inferred"} ! agammaglobulinemia
intersection_of: MONDO:0011096 ! autosomal agammaglobulinemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5541 ! IGHM
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5541 {source="MONDO:mim2gene_medgen"} ! IGHM

[Term]
id: MONDO:0020730
name: carpal tunnel syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amyotrophy, thenar, of carpal origin" EXACT [OMIM:115430]
synonym: "carpal tunnel syndrome" BROAD [OMIM:115430]
synonym: "carpal tunnel syndrome, familial" EXACT [OMIM:115430, OMIM:genemap2]
synonym: "CTS" RELATED ABBREVIATION [OMIM:115430]
synonym: "CTS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:115430]
xref: DOID:0070466 {source="MONDO:equivalentTo"}
xref: MEDGEN:1830382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115430 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"}
xref: UMLS:C5779776 {source="MEDGEN:1830382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007275 {source="MONDO:prototype"} ! carpal tunnel syndrome
intersection_of: MONDO:0007275 ! carpal tunnel syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 ! TTR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="MONDO:mim2gene_medgen"} ! TTR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020731
name: arbovirus infection
def: "A viral infection that is transmitted by an arthropod." [NCIT:C34396]
subset: otar {source="MONDO:OTAR"}
synonym: "Arboviral disease" RELATED [UMLS:C0003723]
synonym: "ARBOVIRUS INFECT" RELATED [MESH:D001102]
synonym: "Arbovirus Infection" RELATED [MESH:D001102, NCIT:C34396]
synonym: "Arbovirus infection" RELATED [UMLS:C0003723]
synonym: "arbovirus infection" EXACT [NCIT:C34396]
synonym: "Arbovirus Infections" RELATED [MESH:D001102]
synonym: "Arthropod-Borne Viral Infection" RELATED [NCIT:C34396]
synonym: "Arthropod-borne viral infection" RELATED [UMLS:C0003723]
synonym: "arthropod-borne viral infection" EXACT [NCIT:C34396]
synonym: "Infection, Arbovirus" RELATED [MESH:D001102]
synonym: "Infections, Arbovirus" RELATED [MESH:D001102]
xref: EFO:1001269 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001102 {source="MONDO:equivalentTo", source="UMLS:C0003723"}
xref: NCIT:C34396 {source="MONDO:equivalentTo", source="UMLS:C0003723"}
xref: SCTID:40610006 {source="MONDO:equivalentTo", source="UMLS:C0003723"}
xref: UMLS:C0003723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:389"}
is_a: MONDO:0005108 {source="MESH:D001102", source="NCIT:C34396"} ! viral infectious disease
intersection_of: MONDO:0005108 ! viral infectious disease
intersection_of: transmitted_by NCBITaxon:6943 ! Amblyomma americanum

[Term]
id: MONDO:0020732
name: progeria
comment: Reason: duplicate. This will be merged with MONDO:0015333 Progeria
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MESH:D011371 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: OMIMPS:176670 {source="MONDO:equivalentTo"}
is_a: MONDO:0015333 ! progeroid syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:176670"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6227" xsd:anyURI
property_value: IAO:0006012 "2023-08-01" xsd:string

[Term]
id: MONDO:0020733
name: proximal symphalangism 1A
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cushing symphalangism" RELATED [OMIM:185800]
synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [OMIM:185800]
synonym: "Sym1" RELATED [OMIM:185800]
synonym: "SYM1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185800]
synonym: "symphalangism, proximal, 1A" RELATED [MONDO:Lexical, OMIM:185800]
synonym: "symphalangism, proximal, type 1A" RELATED [MONDORULE:4, OMIM:185800]
xref: DOID:0080787 {source="MONDO:equivalentTo"}
xref: MEDGEN:811492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:185800 {source="Orphanet:3250/e", source="DOID:0050788", source="MONDO:equivalentTo", source="Orphanet:3250"}
xref: Orphanet:3250 {source="OMIM:185800"}
xref: UMLS:C3714899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811492"}
is_a: MONDO:0000151 {source="DC-OMIM:185800"} ! symphalangism
is_a: MONDO:0008511 {source="MONDO:prototype"} ! proximal symphalangism
is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0000-0001-5208-3432"} ! NOG-related symphalangism spectrum disorder
intersection_of: MONDO:0008511 ! proximal symphalangism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:185800", source="Orphanet:3250"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="MONDO:mim2gene_medgen"} ! NOG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:anyURI

[Term]
id: MONDO:0020734
name: obsolete erythrocyte AMP deaminase deficiency
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "AMP deaminase deficiency, erythrocytic" EXACT [OMIM:612874, OMIM:genemap2]
synonym: "erythrocyte AMP deaminase deficiency" EXACT [OMIM:612874]
xref: OMIM:612874 {source="Orphanet:45", source="MONDO:obsoleteEquivalent", source="Orphanet:45/e"}
xref: Orphanet:45 {source="OMIM:612874"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020735
name: ACTH-independent macronodular adrenal hyperplasia 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTH-independent macronodular adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:219080]
synonym: "ACTH-independent macronodular adrenal hyperplasia, Somatic mutation" EXACT [OMIM:219080, OMIM:genemap2]
synonym: "ACTH-independent macronodular adrenocortical hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080, Orphanet:189427]
synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080]
synonym: "AIMAH1" RELATED ABBREVIATION [MESH:C565662, MONDO:Lexical, OMIM:219080]
synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080]
synonym: "Cushing syndrome, adrenal, due to AIMAH" RELATED [MESH:C565662, OMIM:219080]
xref: DOID:0111623 {source="MONDO:equivalentTo"}
xref: MEDGEN:347456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:219080 {source="MONDO:equivalentTo", source="Orphanet:189427", source="GARD:0010824", source="Orphanet:189427/e"}
xref: Orphanet:189427 {source="OMIM:219080", source="GARD:0010824"}
xref: UMLS:C1857451 {source="MEDGEN:347456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009049 {source="MONDO:prototype"} ! Cushing syndrome due to macronodular adrenal hyperplasia
intersection_of: MONDO:0009049 ! Cushing syndrome due to macronodular adrenal hyperplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 ! GNAS
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020736
name: uncombable hair syndrome 1
subset: gard_rare {source="GARD:15122", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "pili trianguli Et canaliculi" RELATED [OMIM:191480]
synonym: "UHS1" RELATED ABBREVIATION [OMIM:191480]
synonym: "uncombable hair syndrome" RELATED [OMIM:191480]
synonym: "uncombable hair syndrome 1" EXACT [OMIM:191480]
xref: GARD:15122 {source="MONDO:GARD"}
xref: MEDGEN:1640179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:191480 {source="Orphanet:1410", source="MONDO:equivalentTo", source="Orphanet:1410/e"}
xref: Orphanet:1410 {source="OMIM:191480"}
xref: UMLS:C4551573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640179"}
is_a: MONDO:0008621 {source="MONDO:prototype"} ! uncombable hair syndrome
intersection_of: MONDO:0008621 ! uncombable hair syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18337 ! PADI3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18337 {source="MONDO:mim2gene_medgen"} ! PADI3

[Term]
id: MONDO:0020737
name: optic atrophy 10 with or without ataxia, intellectual disability, and seizures
subset: gard_rare {source="GARD:18200", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OPA10" RELATED DEPRECATED [OMIM:616732]
synonym: "optic atrophy 10 with or without ataxia, intellectual disability, and seizures" EXACT [OMIM:616732]
synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" RELATED DEPRECATED [OMIM:616732]
xref: DOID:0111434 {source="MONDO:equivalentTo"}
xref: GARD:18200 {source="MONDO:GARD"}
xref: MEDGEN:905727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616732 {source="Orphanet:98676", source="MONDO:equivalentTo"}
xref: UMLS:C4225227 {source="MEDGEN:905727", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0043878 {source="DC-OMIM:616732", source="OMIM:616732"} ! hereditary optic atrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18647 {source="MONDO:mim2gene_medgen"} ! RTN4IP1

[Term]
id: MONDO:0020738
name: multiple benign circumferential skin creases on limbs 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CSCSC1" RELATED ABBREVIATION [OMIM:156610]
synonym: "skin creases, congenital symmetric circumferential, 1" RELATED [OMIM:156610]
synonym: "symmetric circumferential skin creases, congenital, 1" EXACT [OMIM:156610, OMIM:genemap2]
xref: DOID:0112242 {source="MONDO:equivalentTo"}
xref: MEDGEN:1631916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:156610 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"}
xref: Orphanet:2505 {source="OMIM:156610"}
xref: UMLS:C4551592 {source="MEDGEN:1631916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007990 {source="MONDO:prototype"} ! multiple benign circumferential skin creases on limbs
intersection_of: MONDO:0007990 ! multiple benign circumferential skin creases on limbs
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 ! TUBB
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 {source="MONDO:mim2gene_medgen"} ! TUBB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020739
name: hypercalcemia, infantile, 1
subset: gard_rare {source="GARD:18434", source="MONDO:GARD"}
subset: rare
synonym: "autosomal recessive infantile hypercalcemia 1" EXACT CLINGEN_LABEL []
synonym: "HCINF1" EXACT ABBREVIATION [OMIM:143880]
synonym: "hypercalcemia, infantile, 1" EXACT [OMIM:143880]
xref: GARD:18434 {source="MONDO:GARD"}
xref: MEDGEN:934200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:143880 {source="MONDO:equivalentTo", source="Orphanet:300547", source="Orphanet:300547/e"}
xref: Orphanet:300547 {source="OMIM:143880"}
xref: UMLS:C4310232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934200"}
is_a: MONDO:0000212 {source="DC-OMIM:143880", source="MONDO:Redundant", source="MONDO:prototype", source="OMIM:143880"} ! hypercalcemia, infantile
intersection_of: MONDO:0000212 ! hypercalcemia, infantile
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2602 ! CYP24A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2602 {source="MONDO:mim2gene_medgen"} ! CYP24A1

[Term]
id: MONDO:0020740
name: ectodermal dysplasia and immunodeficiency 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia and immunodeficiency 1, X-linked recessive" EXACT [OMIM:300291, OMIM:genemap2]
synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency 1" RELATED [OMIM:300291]
synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency 1" RELATED [OMIM:300291]
synonym: "EDA-Id" BROAD [OMIM:300291]
synonym: "EDAID1" EXACT ABBREVIATION [OMIM:300291]
synonym: "HED-Id" BROAD [OMIM:300291]
xref: DOID:0081078 {source="MONDO:equivalentTo"}
xref: MEDGEN:375787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176592 {source="MONDO:equivalentTo"}
xref: OMIM:300291 {source="MONDO:equivalentTo", source="Orphanet:98813", source="Orphanet:98813/e"}
xref: Orphanet:238468 {source="OMIM:300291"}
xref: Orphanet:98813 {source="OMIM:300291"}
xref: UMLS:C1846008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375787"}
is_a: MONDO:0010293 {source="MONDO:prototype"} ! ectodermal dysplasia and immune deficiency
is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia
intersection_of: MONDO:0010293 ! ectodermal dysplasia and immune deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 ! IKBKG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="MONDO:mim2gene_medgen"} ! IKBKG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5520" xsd:anyURI

[Term]
id: MONDO:0020741
name: pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AASA dehydrogenase deficiency" RELATED [OMIM:266100]
synonym: "EPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266100]
synonym: "Epd" RELATED [OMIM:266100]
synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical, OMIM:266100]
synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100]
synonym: "pyridoxine-dependent epilepsy" RELATED [OMIM:266100]
synonym: "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" EXACT CLINGEN_LABEL []
xref: DOID:0070519 {source="MONDO:equivalentTo"}
xref: OMIM:266100 {source="Orphanet:3006", source="MONDO:equivalentTo", source="Orphanet:3006/e"}
xref: Orphanet:3006 {source="OMIM:266100"}
is_a: MONDO:0009945 {source="MONDO:prototype"} ! pyridoxine-dependent epilepsy
intersection_of: MONDO:0009945 ! pyridoxine-dependent epilepsy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/877 ! ALDH7A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/877 {source="MONDO:mim2gene_medgen"} ! ALDH7A1

[Term]
id: MONDO:0020742
name: obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
comment: See https://github.com/monarch-initiative/mondo/issues/763
synonym: "CAMAK syndrome" RELATED [OMIM:212540]
synonym: "CAMFAK syndrome" RELATED [OMIM:212540]
synonym: "cataract, microcephaly, arthrogryposis, kyphosis syndrome" RELATED [OMIM:212540]
synonym: "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" RELATED [OMIM:212540]
synonym: "cataract-microcephaly-failure to thrive-kyphoscoliosis" RELATED [MESH:C537965]
xref: MESH:C537965 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:212540 {source="MONDO:obsoleteEquivalent", source="GARD:0001060"}
xref: Orphanet:1317 {source="OMIM:212540", source="MONDO:obsoleteEquivalentObsolete"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1060/cataract-microcephaly-failure-to-thrive-kyphoscoliosis" xsd:anyURI {source="GARD:0001060"}
is_obsolete: true
replaced_by: MONDO:0008926

[Term]
id: MONDO:0020743
name: mixed phenotype acute leukemia
def: "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." [NCIT:C82179]
subset: gard_rare {source="GARD:17972", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:530995"}
subset: orphanet_rare {source="Orphanet:530995"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mixed phenotype acute leukemia" EXACT [NCIT:C82179]
synonym: "MPAL" EXACT ABBREVIATION [NCIT:C82179]
xref: GARD:17972 {source="MONDO:GARD"}
xref: ICD10CM:C95.0 {source="Orphanet:530995"}
xref: MedDRA:10067399 {source="Orphanet:530995"}
xref: MEDGEN:417342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015456 {source="Orphanet:530995"}
xref: NANDO:2200018 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C82179 {source="MONDO:equivalentTo"}
xref: Orphanet:530995 {source="MONDO:equivalentTo"}
xref: UMLS:C2826025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:417342"}
is_a: MONDO:0000001 {source="Orphanet:530995"} ! disease
is_a: MONDO:0019460 {source="NCIT:C82179", source="Orphanet:530995"} ! acute leukemia of ambiguous lineage
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0020744
name: Mobitz type I atrioventricular block
def: "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)" [NCIT:C62017]
synonym: "AV block second degree Mobitz type I" EXACT [NCIT:C62017]
synonym: "AV block second degree Möbitz type I" EXACT [NCIT:C62017]
synonym: "Mobitz I" EXACT [NCIT:C62017]
synonym: "Mobitz type I" EXACT [NCIT:C62017]
synonym: "Mobitz type I second degree AV block" EXACT [NCIT:C62017]
synonym: "Möbitz I" EXACT [NCIT:C62017]
synonym: "Möbitz type I second degree AV block" EXACT [NCIT:C62017]
synonym: "second degree atrioventricular block Mobitz type I" EXACT [NCIT:C62017]
synonym: "second degree atrioventricular block Möbitz type I" EXACT [NCIT:C62017]
synonym: "type 1 2nd degree AV block" EXACT [NCIT:C62017]
synonym: "type 1 second degree atrioventricular block" EXACT [NCIT:C62017]
synonym: "type 1 second degree AV block" EXACT [NCIT:C62017]
synonym: "Wenckebach block" EXACT [NCIT:C62017]
xref: MEDGEN:82687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C62017 {source="MONDO:equivalentTo"}
xref: UMLS:C0264907 {source="MEDGEN:82687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000467 {source="NCIT:C62017"} ! second-degree atrioventricular block

[Term]
id: MONDO:0020745
name: ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
subset: n_of_one
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal dominant cardiac arrhythmia (Kuhn)" EXACT DEPRECATED [OMIM:115000]
synonym: "cardiac arrhythmia" RELATED [OMIM:115000]
synonym: "extrasystoles" RELATED [OMIM:115000]
synonym: "VACRDS" EXACT ABBREVIATION [OMIM:115000]
synonym: "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" EXACT [OMIM:115000, OMIM:genemap2]
xref: MEDGEN:1781114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115000 {source="MONDO:equivalentTo"}
xref: UMLS:C5542154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781114"}
is_a: MONDO:0007263 ! cardiac rhythm disease
relationship: has_characteristic HP:0000006 {source="OMIM:115000"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020746
name: contractures, pterygia, and variable skeletal fusions syndrome 1B
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B" EXACT [OMIM:618469, OMIM:genemap2]
xref: DOID:0081322 {source="MONDO:equivalentTo"}
xref: MEDGEN:1676457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618469 {source="MONDO:equivalentTo"}
xref: Orphanet:2990 {source="OMIM:618469"}
xref: UMLS:C5193114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676457"}
is_a: MONDO:0020937 {source="https://orcid.org/0000-0002-6601-2165"} ! contractures, pterygia, and variable skeletal fusions syndrome
intersection_of: MONDO:0017415 ! multiple pterygium syndrome
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 ! MYH3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020747
name: sitosterolemia 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "sitosterolemia 1" EXACT CLINGEN_LABEL []
synonym: "STSL1" EXACT ABBREVIATION [OMIM:210250]
xref: MEDGEN:440869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:210250 {source="MONDO:equivalentTo"}
xref: Orphanet:101022 {source="OMIM:210250"}
xref: Orphanet:2882 {source="OMIM:210250"}
xref: UMLS:C2749759 {source="MEDGEN:440869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008863 {source="https://orcid.org/0000-0001-5208-3432"} ! sitosterolemia

[Term]
id: MONDO:0020748
name: sitosterolemia 2
subset: gard_rare {source="GARD:16372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "STSL2" EXACT ABBREVIATION [OMIM:618666]
xref: GARD:16372 {source="MONDO:GARD"}
xref: MEDGEN:1684715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618666 {source="MONDO:equivalentTo"}
xref: UMLS:C5231453 {source="MEDGEN:1684715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008863 {source="https://orcid.org/0000-0001-5208-3432"} ! sitosterolemia

[Term]
id: MONDO:0020749
name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" EXACT CLINGEN_LABEL []
xref: MEDGEN:1648386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:221770 {source="MONDO:equivalentTo"}
xref: Orphanet:2770 {source="OMIM:221770"}
xref: UMLS:C4721893 {source="MEDGEN:1648386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009092 ! polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0020750
name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:1648374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618193 {source="MONDO:equivalentTo"}
xref: Orphanet:2770 {source="OMIM:618193"}
xref: UMLS:C4748657 {source="MEDGEN:1648374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009092 ! polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

[Term]
id: MONDO:0020751
name: orthostatic hypotension 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:1648282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618182 {source="MONDO:equivalentTo"}
xref: UMLS:C4748569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648282"}
is_a: MONDO:0021272 ! inherited orthostatic hypotension

[Term]
id: MONDO:0020752
name: myoclonic epilepsy, juvenile, susceptibility to, 1
comment: The OMIM entry is named generically, the same as the PS (https://omim.org/phenotypicSeries/PS254770) but it refers to a susceptibility conferred by a specific gene.
subset: predisposition
synonym: "EJM1" EXACT ABBREVIATION [OMIM:254770]
xref: MEDGEN:342587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:254770 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:307 {source="OMIM:254770"}
xref: UMLS:C1850778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342587"}
is_a: MONDO:0020573 {source="OMIM:254770"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0009696 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile myoclonic epilepsy
relationship: predisposes_towards MONDO:0009696 {source="OMIM:254770"} ! juvenile myoclonic epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1348" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4147" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0020753
name: Orthocoronavirinae infectious disease
def: "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19." [https://github.com/monarch-initiative/mondo/issues/1355, https://orcid.org/0000-0002-6601-2165, Wikipedia:Coronavirus]
synonym: "coronavirus infectious disease" EXACT [Wikipedia:Coronavirus]
xref: DOID:0080599 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="DOID:0080599", source="MONDO:redundant"} ! viral infectious disease
is_a: MONDO:0005718 ! Coronaviridae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:2501931 ! disease has primary infectious agent Orthocoronavirinae

[Term]
id: MONDO:0020754
name: visceral myopathy 1
subset: otar {source="MONDO:OTAR"}
synonym: "infantile visceral myopathy" RELATED [OMIM:155310]
synonym: "megaduodenum and/or megacystis" RELATED [OMIM:155310]
synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:155310]
synonym: "visceral myopathy" EXACT [OMIM:155310]
synonym: "visceral myopathy 1" EXACT [OMIM:155310, OMIM:genemap2]
synonym: "VSCM" RELATED ABBREVIATION [OMIM:155310]
xref: MEDGEN:1785391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:155310 {source="MONDO:equivalentTo"}
xref: Orphanet:2604 {source="OMIM:155310"}
xref: UMLS:C5542197 {source="MEDGEN:1785391", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="Orphanet:2604"} ! intestinal disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020755
name: obsolete heart block
xref: SCTID:233916004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000423
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2536" xsd:anyURI
is_obsolete: true
consider: HP:0012722

[Term]
id: MONDO:0020756
name: migraine, familial hemiplegic, 1
subset: gard_rare {source="GARD:2638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial hemiplegic migraine type 1" EXACT [GARD:0002638]
synonym: "FHM1" EXACT ABBREVIATION [GARD:0002638, MONDO:Lexical, OMIM:141500]
synonym: "hemiplegic migraine, familial type 1" EXACT [GARD:0002638]
synonym: "MHP1" EXACT ABBREVIATION [GARD:0002638, OMIM:141500]
synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [GARD:0002638, OMIM:141500]
synonym: "migraine, familial hemiplegic, 1" EXACT [MONDO:Lexical, OMIM:141500]
synonym: "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia" EXACT [OMIM:141500, OMIM:genemap2]
synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1, OMIM:141500]
synonym: "migraine, sporadic hemiplegic" EXACT [OMIM:141500]
xref: DOID:0111181 {source="MONDO:equivalentTo"}
xref: GARD:2638 {source="MONDO:GARD"}
xref: MEDGEN:331388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536890 {source="MONDO:equivalentTo"}
xref: OMIM:141500 {source="MONDO:equivalentTo"}
xref: Orphanet:569 {source="OMIM:141500"}
xref: UMLS:C1832884 {source="MEDGEN:331388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000700 {source="OMIM:141500"} ! familial hemiplegic migraine
is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder
intersection_of: MONDO:0000700 ! familial hemiplegic migraine
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 {source="MONDO:mim2gene_medgen"} ! CACNA1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI

[Term]
id: MONDO:0020757
name: sporadic hemiplegic migraine
def: "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." [NCIT:C117011]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sporadic hemiplegic migraine" EXACT [NCIT:C117011]
xref: MEDGEN:318737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117011 {source="MONDO:equivalentTo"}
xref: UMLS:C1832903 {source="MONDO:equivalentTo", source="MEDGEN:318737", source="MONDO:MEDGEN"}
is_a: MONDO:0005277 {source="NCIT:C117011"} ! migraine disorder
is_a: MONDO:0018925 {source="https://orcid.org/0000-0002-6601-2165"} ! familial or sporadic hemiplegic migraine

[Term]
id: MONDO:0020758
name: obsolete MONDO:0020758
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0037872

[Term]
id: MONDO:0020759
name: epilepsy, childhood absence, susceptibility to, 1
synonym: "ECA1" EXACT ABBREVIATION [OMIM:600131]
synonym: "epilepsy, childhood absence, 1" EXACT [OMIM:600131, OMIM:genemap2]
synonym: "epilepsy, childhood absence, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:600131]
xref: MEDGEN:325057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600131 {source="MONDO:equivalentTo"}
xref: Orphanet:64280 {source="OMIM:600131"}
xref: UMLS:C1838604 {source="MEDGEN:325057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:600131"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0010826 {source="OMIM:600131", source="https://orcid.org/0000-0001-5208-3432"} ! childhood absence epilepsy
relationship: predisposes_towards MONDO:0010826 {source="OMIM:600131"} ! childhood absence epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020760
name: skin squamous cell carcinoma in situ
def: "Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion." [NCIT:C2906]
subset: otar {source="MONDO:OTAR"}
synonym: "intraepidermal squamous cell carcinoma" EXACT [NCIT:C2906]
synonym: "skin squamous cell cancer in situ" EXACT [NCIT:C2906]
synonym: "skin squamous cell carcinoma in situ" EXACT [NCIT:C2906]
synonym: "squamous cell carcinoma in situ of skin" EXACT [NCIT:C2906]
synonym: "squamous cell carcinoma in situ of the skin" EXACT [NCIT:C2906]
xref: MEDGEN:378389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2906 {source="MONDO:equivalentTo"}
xref: UMLS:C2314897 {source="MEDGEN:378389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002529 {source="NCIT:C2906"} ! skin squamous cell carcinoma
is_a: MONDO:0004641 {source="NCIT:C2906"} ! skin carcinoma in situ
intersection_of: MONDO:0004693 ! squamous carcinoma in situ
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0020761
name: Bowen disease of the skin
def: "A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative." [NCIT:C62571]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="NORD:868", source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bowen Disease" EXACT [MESH:D001913, NORD:868]
synonym: "Bowen disease" EXACT [NCIT:C62571]
synonym: "Bowen disease of the skin" EXACT [NCIT:C62571]
synonym: "Bowen's disease of the skin" EXACT [NCIT:C62571]
synonym: "Bowens Disease" EXACT [MESH:D001913]
synonym: "Disease, Bowen" EXACT [MESH:D001913]
synonym: "Disease, Bowen's" EXACT [MESH:D001913]
synonym: "intraepidermal squamous cell carcinoma, Bowen type" EXACT [NCIT:C62571]
xref: ICDO:8081/2 {source="NCIT:C62571"}
xref: MEDGEN:14207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001913 {source="UMLS:C0006079", source="MONDO:equivalentTo"}
xref: NCIT:C62571 {source="UMLS:C0006079", source="MONDO:equivalentTo"}
xref: NORD:868 {source="MONDO:NORD"}
xref: SCTID:254656002 {source="UMLS:C0006079"}
xref: SCTID:84999002 {source="UMLS:C0006079"}
xref: UMLS:C0006079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14207"}
is_a: MONDO:0000001 {source="GARD:0005948"} ! disease
is_a: MONDO:0005096 {source="MESH:D001913"} ! squamous cell carcinoma
is_a: MONDO:0020760 {source="NCIT:C62571"} ! skin squamous cell carcinoma in situ
relationship: has_characteristic MONDO:0021136 {source="GARD:0005948"} ! rare
relationship: has_characteristic MONDO:0024493 {source="UMLS:C0006079"} ! tumor grade 3, general grading system

[Term]
id: MONDO:0020762
name: diencephalic-mesencephalic junction dysplasia syndrome 2
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DMJDS2" EXACT ABBREVIATION [OMIM:618646]
synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" RELATED [OMIM:618646]
xref: MEDGEN:1684846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618646 {source="MONDO:equivalentTo"}
xref: UMLS:C5231440 {source="MEDGEN:1684846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017868 {source="OMIM:618646"} ! diencephalic-mesencephalic junction dysplasia

[Term]
id: MONDO:0020763
name: Menke-Hennekam syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Menke-Hennekam syndrome 1" EXACT [OMIM:618332]
synonym: "MKHK1" RELATED ABBREVIATION [OMIM:618332]
xref: MEDGEN:1675629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618332 {source="MONDO:equivalentTo"}
xref: UMLS:C5193034 {source="MEDGEN:1675629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020774 {source="OMIM:618332"} ! Menke-Hennekam syndrome

[Term]
id: MONDO:0020764
name: Brown-Pearce carcinoma
subset: otar {source="MONDO:OTAR"}
synonym: "Brown-Pearce carcinoma" EXACT [MESH:D002284]
synonym: "Brown-Pearce epithelioma" EXACT [MESH:D002284]
synonym: "Brown-Pearce tumor" EXACT []
synonym: "Brown-Pearce tumour" EXACT OMO:0003005 []
synonym: "carcinoma, Brown Pearce" EXACT [MESH:D002284]
synonym: "carcinoma, Brown-Pearce" EXACT [MESH:D002284]
synonym: "epithelioma, Brown Pearce" EXACT [MESH:D002284]
synonym: "epithelioma, Brown-Pearce" EXACT [MESH:D002284]
xref: EFO:1001278 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D002284 {source="UMLS:C0007122", source="MONDO:equivalentTo"}
is_a: MONDO:0005583 ! non-human animal disease
is_a: MONDO:0700101 ! carcinoma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: RO:0002175 NCBITaxon:9986 {source="MESH:D002284"}

[Term]
id: MONDO:0020765
name: neuropathy, congenital hypomyelinating, 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHN2" EXACT ABBREVIATION [OMIM:618184]
synonym: "hypomyelinating neuropathy, congenital, 2" EXACT [OMIM:618184, OMIM:genemap2]
synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2" EXACT [OMIM:618184]
xref: MEDGEN:1648446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618184 {source="MONDO:equivalentTo"}
xref: Orphanet:64748 {source="OMIM:618184"}
xref: UMLS:C4722277 {source="MONDO:equivalentTo", source="MEDGEN:1648446", source="MONDO:MEDGEN"}
is_a: MONDO:0033352 {source="OMIM:618184"} ! neuropathy, congenital hypomelinating
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020766
name: neuropathy, congenital hypomyelinating, 3
subset: gard_rare {source="GARD:18567", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHN3" EXACT ABBREVIATION [OMIM:618186]
synonym: "hypomyelinating neuropathy, congenital, 3" EXACT [OMIM:618186, OMIM:genemap2]
synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3" EXACT [OMIM:618186]
xref: GARD:18567 {source="MONDO:GARD"}
xref: MEDGEN:1648417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618186 {source="MONDO:equivalentTo"}
xref: Orphanet:2680 {source="OMIM:618186"}
xref: UMLS:C4748608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648417"}
is_a: MONDO:0033352 {source="OMIM:618186"} ! neuropathy, congenital hypomelinating
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020767
name: cauda equina syndrome with neurogenic bladder
def: "A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disk herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted." [NCIT:C34453]
synonym: "Cauda Equina Syndrome with Neurogenic Bladder" RELATED [NCIT:C34453]
synonym: "Cauda equina syndrome with neurogenic bladder" RELATED [UMLS:C0007459]
synonym: "cauda equina syndrome with neurogenic bladder" EXACT [NCIT:C34453]
xref: ICD9:344.61
xref: MEDGEN:2916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34453 {source="MONDO:equivalentTo", source="UMLS:C0007459"}
xref: SCTID:12454008 {source="MONDO:equivalentTo", source="UMLS:C0007459"}
xref: UMLS:C0007459 {source="MEDGEN:2916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005693 {source="NCIT:C34453", source="UMLS:C0007459"} ! cauda equina syndrome

[Term]
id: MONDO:0020768
name: X-linked deafness
comment: Note that this encompasses both syndromic and non-syndromic types.
subset: otar {source="MONDO:OTAR"}
synonym: "deafness, X-linked" EXACT [OMIMPS:304500]
synonym: "deafness, X-linked, DFN" EXACT [GARD:0001715]
synonym: "DFNX" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "X-linked deafness" EXACT CLINGEN_LABEL []
xref: OMIMPS:304500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
intersection_of: MONDO:0005365 ! hearing loss disorder
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:304500"} ! inherited

[Term]
id: MONDO:0020769
name: Menke-Hennekam syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Menke-Hennekam syndrome 2" EXACT [OMIM:618333]
synonym: "MKHK2" RELATED ABBREVIATION [OMIM:618333]
xref: MEDGEN:1676668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618333 {source="MONDO:equivalentTo"}
xref: UMLS:C5193035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676668"}
is_a: MONDO:0020774 {source="OMIM:618333"} ! Menke-Hennekam syndrome

[Term]
id: MONDO:0020770
name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCAN3" RELATED ABBREVIATION [OMIM:618387]
synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3" RELATED [OMIM:618387]
xref: DOID:0070465 {source="MONDO:equivalentTo"}
xref: MEDGEN:1673607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618387 {source="MONDO:equivalentTo"}
xref: UMLS:C5193070 {source="MEDGEN:1673607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020771 {source="OMIM:618387"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy

[Term]
id: MONDO:0020771
name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCAN" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: MEDGEN:337609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:607250 {source="MONDO:equivalentTo"}
xref: UMLS:C1846574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337609"}
is_a: MONDO:0015244 {source="https://orcid.org/0000-0002-6601-2165"} ! autosomal recessive cerebellar ataxia
is_a: MONDO:0021190 {source="PMID:31723605"} ! DNA repair disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607250"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5347" xsd:anyURI

[Term]
id: MONDO:0020772
name: epilepsy, juvenile absence, susceptibility to, 1
synonym: "EJA1" EXACT ABBREVIATION [OMIM:607631]
synonym: "EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1" EXACT [OMIM:607631]
synonym: "epilepsy, juvenile absence, susceptibility to, type 1" EXACT [OMIM:607631]
synonym: "JAE1" EXACT ABBREVIATION [OMIM:607631]
synonym: "susceptibility to juvenile absence epilepsy 1" EXACT [OMIM:607631]
xref: DOID:0111324 {source="MONDO:equivalentTo"}
xref: MEDGEN:413426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607631 {source="MONDO:equivalentTo"}
xref: Orphanet:1941 {source="OMIM:607631"}
xref: UMLS:C2750892 {source="MEDGEN:413426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:607631"} ! inherited disease susceptibility
is_a: MONDO:1030001 {source="OMIM:607631"} ! epilepsy, juvenile absence, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16406 ! EFHC1
intersection_of: predisposes_towards MONDO:0800453 ! juvenile absence epilepsy
relationship: excluded_subClassOf MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
relationship: excluded_subClassOf MONDO:0800453 {source="OMIM:607631", source="https://orcid.org/0000-0001-5208-3432"} ! juvenile absence epilepsy
relationship: has_characteristic MONDO:0021152 {source="OMIM:607631"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6897" xsd:anyURI

[Term]
id: MONDO:0020773
name: cerebrospinal fluid rhinorrhea
def: "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)" [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559, NCIT:C84627]
synonym: "Cerebrospinal fluid rhinorrhea" RELATED [UMLS:C0007815]
synonym: "cerebrospinal fluid rhinorrhea" EXACT []
synonym: "Cerebrospinal Fluid Rhinorrhea, post Traumatic" RELATED [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrhea, post-Traumatic" RELATED [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrhea, Spontaneous" RELATED [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrhea, Traumatic" RELATED [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrheas" RELATED [MESH:D002559]
synonym: "Cerebrospinal fluid rhinorrhoea" RELATED [GTR:AN1353832, HP:0030998]
synonym: "Cerebrospinal Rhinorrhea" RELATED [MESH:D002559]
synonym: "Cerebrospinal rhinorrhea" RELATED [UMLS:C0007815]
synonym: "cerebrospinal rhinorrhea" RELATED []
synonym: "Cerebrospinal Rhinorrheas" RELATED [MESH:D002559]
synonym: "CSF - Cerebrospinal rhinorrhea" RELATED [UMLS:C0007815]
synonym: "csf - cerebrospinal rhinorrhea" RELATED []
synonym: "CSF Rhinorrhea" RELATED [MESH:D002559]
synonym: "CSF Rhinorrheas" RELATED [MESH:D002559]
synonym: "CSF rhinorrhoea" RELATED [GTR:AN1355639, HP:0030998]
synonym: "post Traumatic Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559]
synonym: "post Traumatic Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "post-Traumatic Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559]
synonym: "post-Traumatic Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Cerebrospinal" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Cerebrospinal Fluid, post-Traumatic" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Cerebrospinal Fluid, Spontaneous" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Cerebrospinal Fluid, Traumatic" RELATED [MESH:D002559]
synonym: "Rhinorrhea, CSF" RELATED [MESH:D002559]
synonym: "Rhinorrhea, post-Traumatic, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Spontaneous Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrhea, Traumatic Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrheas, Cerebrospinal" RELATED [MESH:D002559]
synonym: "Rhinorrheas, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Rhinorrheas, CSF" RELATED [MESH:D002559]
synonym: "Spontaneous Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559]
synonym: "Spontaneous Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
synonym: "Traumatic Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559]
synonym: "Traumatic Rhinorrhea, Cerebrospinal Fluid" RELATED [MESH:D002559]
xref: GTR:AN1353832 {source="UMLS:C0007815"}
xref: GTR:AN1355639 {source="UMLS:C0007815"}
xref: HP:0030998 {source="UMLS:C0007815"}
xref: ICD9:349.81
xref: MEDGEN:3331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002559 {source="MONDO:equivalentTo", source="UMLS:C0007815"}
xref: NCIT:C84627 {source="MONDO:equivalentTo", source="UMLS:C0007815"}
xref: SCTID:85638002 {source="MONDO:equivalentTo", source="UMLS:C0007815"}
xref: UMLS:C0007815 {source="MEDGEN:3331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0043327 {source="MESH:D002559"} ! cerebrospinal fluid leak

[Term]
id: MONDO:0020774
name: Menke-Hennekam syndrome
subset: gard_rare {source="GARD:22371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:592574"}
subset: orphanet_rare {source="Orphanet:592574"}
subset: rare
xref: GARD:22371 {source="MONDO:GARD"}
xref: MEDGEN:1814480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:618332 {source="MONDO:equivalentTo"}
xref: Orphanet:592574 {source="MONDO:equivalentTo"}
xref: UMLS:C5681632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814480"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:618332"} ! inherited

[Term]
id: MONDO:0020775
name: congenital disorder of glycosylation with defective fucosylation 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cdgf" RELATED [OMIM:618005]
synonym: "CDGF1" RELATED ABBREVIATION [OMIM:618005]
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1" RELATED [OMIM:618005]
xref: OMIM:618005 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="OMIM:618005"} ! disease
is_a: MONDO:0060720 {source="OMIM:618005"} ! congenital disorder of glycosylation with defective fucosylation

[Term]
id: MONDO:0020776
name: chlamydiaceae infections
def: "Infections with bacteria of the family CHLAMYDIACEAE." [MESH:D002694]
subset: otar {source="MONDO:OTAR"}
synonym: "Chlamydiaceae Infection" RELATED [MESH:D002694]
synonym: "Chlamydiaceae Infections" RELATED [MESH:D002694]
synonym: "Infection, Chlamydiaceae" RELATED [MESH:D002694]
synonym: "Infections, Chlamydiaceae" RELATED [MESH:D002694]
xref: EFO:1001288 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:3013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002694 {source="MONDO:equivalentTo", source="UMLS:C0008153"}
xref: UMLS:C0008153 {source="MEDGEN:3013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021678 {source="MESH:D002694"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:809 ! Chlamydiaceae

[Term]
id: MONDO:0020777
name: congenital disorder of glycosylation with defective fucosylation 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CDGF2" RELATED ABBREVIATION [OMIM:618324]
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2" RELATED [OMIM:618324]
xref: MEDGEN:1676187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618324 {source="MONDO:equivalentTo"}
xref: UMLS:C5193028 {source="MEDGEN:1676187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:618324"} ! disease
is_a: MONDO:0060720 {source="OMIM:618324"} ! congenital disorder of glycosylation with defective fucosylation

[Term]
id: MONDO:0020778
name: cone-rod dystrophy and hearing loss 1
synonym: "cone-rod dystrophy and hearing loss" BROAD [OMIM:617236, OMIM:genemap2]
synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 1" RELATED [OMIM:617236]
synonym: "Crdhl" RELATED [OMIM:617236]
synonym: "CRDHL1" RELATED ABBREVIATION [OMIM:617236]
xref: MEDGEN:1682048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617236 {source="MONDO:equivalentTo"}
xref: UMLS:C5193018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682048"}
is_a: MONDO:0000001 {source="OMIM:617236"} ! disease
is_a: MONDO:0014980 {source="OMIM:617236"} ! cone-rod dystrophy and hearing loss
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25740 {source="MONDO:mim2gene_medgen"} ! CEP78
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020779
name: cartilage development disorder
def: "Any dysfunction in the growth of cartilage." [NCIT:C34466]
synonym: "abnormal development of cartilage" RELATED [UMLS:C0008449]
synonym: "cartilage development disorder" EXACT [NCIT:C34466]
synonym: "chondrodystrophy" EXACT [NCIT:C34466]
synonym: "Congenital anomaly of cartilage" RELATED [UMLS:C0008449]
xref: ICD9:756.4
xref: ICD9:756.9
xref: MEDGEN:935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34466 {source="MONDO:equivalentTo", source="UMLS:C0008449"}
xref: SCTID:67988000 {source="MONDO:equivalentTo", source="UMLS:C0008449"}
xref: UMLS:C0008449 {source="MEDGEN:935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0051216 ! cartilage development
relationship: disease_has_location UBERON:0002418 ! cartilage tissue

[Term]
id: MONDO:0020780
name: cone-rod dystrophy and hearing loss 2
synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 2" RELATED [OMIM:618358]
synonym: "CRDHL2" RELATED ABBREVIATION [OMIM:618358]
xref: MEDGEN:1675017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618358 {source="MONDO:equivalentTo"}
xref: UMLS:C5193051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675017"}
is_a: MONDO:0000001 {source="OMIM:618358"} ! disease
is_a: MONDO:0014980 {source="OMIM:618358"} ! cone-rod dystrophy and hearing loss

[Term]
id: MONDO:0020781
name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
subset: gard_rare {source="GARD:17991", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:555407"}
subset: orphanet_rare {source="Orphanet:555407"}
subset: rare
synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" BROAD [OMIM:617186, OMIM:genemap2]
synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1" RELATED [OMIM:617186]
synonym: "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy" BROAD OMO:0003005 []
synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407]
synonym: "PEBEL1" RELATED ABBREVIATION [OMIM:617186]
xref: GARD:17991 {source="MONDO:GARD"}
xref: MEDGEN:934642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617186 {source="MONDO:equivalentTo"}
xref: Orphanet:555407 {source="MONDO:equivalentTo", source="OMIM:617186"}
xref: UMLS:C4310675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934642"}
is_a: MONDO:0000001 {source="OMIM:617186"} ! disease
is_a: MONDO:0014960 {source="OMIM:617186"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
relationship: disease_has_basis_in_disruption_of GO:0052856 ! NADHX epimerase activity
relationship: has_characteristic HP:0000007 {source="Orphanet:555407"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18453 {source="MONDO:mim2gene_medgen", source="Orphanet:555407"} ! NAXE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020782
name: chronic gingivitis
def: "Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth." [NCIT:C34474]
subset: otar {source="MONDO:OTAR"}
synonym: "Chronic Gingivitis" RELATED [NCIT:C34474]
synonym: "Chronic gingivitis" RELATED [UMLS:C0008684]
synonym: "chronic gingivitis" EXACT [NCIT:C34474]
xref: ICD9:523.1
xref: ICD9:523.10
xref: MEDGEN:965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34474 {source="UMLS:C0008684", source="MONDO:equivalentTo"}
xref: SCTID:72621003 {source="UMLS:C0008684", source="MONDO:equivalentTo"}
xref: UMLS:C0008684 {source="MEDGEN:965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002508 {source="NCIT:C34474", source="UMLS:C0008684"} ! gingivitis
intersection_of: MONDO:0002508 ! gingivitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0020783
name: capillary malformation-arteriovenous malformation 1
subset: gard_rare {source="GARD:9787", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90307"}
subset: orphanet_rare {source="Orphanet:90307"}
subset: rare
synonym: "Capillary Malformation-Arteriovenous Malformation" BROAD [OMIM:608354]
synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1" EXACT [OMIM:608354]
synonym: "capillary malformation-arteriovenous malformation 1" EXACT CLINGEN_LABEL []
synonym: "CMAVM1" EXACT ABBREVIATION [OMIM:608354]
synonym: "Parkes Weber syndrome" EXACT [MONDO:0012017, OMIM:608355]
synonym: "PKWS" EXACT ABBREVIATION [OMIM:608355]
xref: GARD:9787 {source="MONDO:GARD"}
xref: ICD10CM:Q87.2 {source="Orphanet:90307/attributed", source="Orphanet:90307/ntbt", source="Orphanet:90307"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1648501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608354 {source="MONDO:equivalentTo"}
xref: OMIM:608355 {source="MONDO:equivalentObsolete", source="Orphanet:90307/e", source="Orphanet:90307"}
xref: Orphanet:137667 {source="OMIM:608354"}
xref: Orphanet:2346 {source="OMIM:608354", source="OMIM:608355"}
xref: Orphanet:90307 {source="MONDO:equivalentTo", source="OMIM:608354", source="OMIM:608355"}
xref: SCTID:234143003 {source="MONDO:equivalentTo"}
xref: UMLS:C4747394 {source="MONDO:equivalentTo", source="MEDGEN:1648501", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:608354"} ! disease
is_a: MONDO:0012016 {source="OMIM:608354"} ! capillary malformation-arteriovenous malformation syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0007864 {source="Orphanet:90307", source="https://orcid.org/0000-0001-5208-3432"} ! angioosteohypertrophic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9871 {source="MONDO:mim2gene_medgen"} ! RASA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/114" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome" xsd:anyURI {source="GARD:0009787"}

[Term]
id: MONDO:0020784
name: obsolete short sleep, familial natural, 1
synonym: "FNSS1" RELATED ABBREVIATION [OMIM:612975]
synonym: "Short Sleep Phenotype" RELATED [OMIM:612975]
synonym: "SHORT SLEEP, FAMILIAL NATURAL, 1" RELATED [OMIM:612975]
synonym: "short sleep, familial natural, 1" EXACT [OMIM:612975, OMIM:genemap2]
xref: OMIM:612975 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020785
name: capillary malformation-arteriovenous malformation 2
subset: gard_rare {source="GARD:16307", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2" RELATED [OMIM:618196]
synonym: "CMAVM2" RELATED ABBREVIATION [OMIM:618196]
xref: GARD:16307 {source="MONDO:GARD"}
xref: MEDGEN:1648502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618196 {source="MONDO:equivalentTo"}
xref: Orphanet:1053 {source="OMIM:618196"}
xref: UMLS:C4748670 {source="MEDGEN:1648502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:618196"} ! disease
is_a: MONDO:0012016 {source="OMIM:618196"} ! capillary malformation-arteriovenous malformation syndrome
is_a: MONDO:0700080 {source="https://www.clinicalgenome.org/affiliation/40106/"} ! EPHB4-associated vascular malformation spectrum
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3395 {source="OMIM:618196"} ! EPHB4

[Term]
id: MONDO:0020786
name: obsolete short sleep, familial natural, 2
synonym: "FNSS2" RELATED ABBREVIATION [OMIM:618591]
synonym: "SHORT SLEEP, FAMILIAL NATURAL, 2" RELATED [OMIM:618591]
synonym: "short sleep, familial natural, 2" EXACT [OMIM:618591, OMIM:genemap2]
xref: OMIM:618591 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0020787
name: hypomagnesemia, seizures, and intellectual disability 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HOMGSMR1" RELATED ABBREVIATION [OMIM:616418]
synonym: "hypomagnesemia, seizures, and mental retardation" BROAD [OMIM:616418, OMIM:genemap2]
synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1" RELATED [OMIM:616418]
xref: MEDGEN:906582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616418 {source="MONDO:equivalentTo"}
xref: Orphanet:34527 {source="OMIM:616418"}
xref: UMLS:C4225333 {source="MEDGEN:906582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014631 {source="OMIM:616418"} ! hypomagnesemia, seizures, and intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/103 {source="MONDO:mim2gene_medgen"} ! CNNM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020788
name: hypomagnesemia, seizures, and intellectual disability 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HOMGSMR2" RELATED ABBREVIATION [OMIM:618314]
synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2" RELATED [OMIM:618314]
xref: MEDGEN:1675904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618314 {source="MONDO:equivalentTo"}
xref: UMLS:C5193023 {source="MEDGEN:1675904", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014631 {source="OMIM:618314"} ! hypomagnesemia, seizures, and intellectual disability

[Term]
id: MONDO:0020789
name: pseudo-TORCH syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pseudo-TORCH syndrome" BROAD [OMIM:251290]
synonym: "pseudo-TORCH syndrome 1" EXACT CLINGEN_LABEL [DOID:0050656, OMIM:251290]
synonym: "pseudo-TORCH syndrome type 1" EXACT [DOID:0050656, MONDORULE:1]
synonym: "PTORCH1" EXACT ABBREVIATION [OMIM:251290]
xref: MEDGEN:1639355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:251290 {source="MONDO:equivalentTo"}
xref: Orphanet:1229 {source="OMIM:251290"}
xref: UMLS:C4552078 {source="MEDGEN:1639355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009626 {source="OMIM:251290"} ! pseudo-TORCH syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8104 {source="MONDO:mim2gene_medgen"} ! OCLN

[Term]
id: MONDO:0020790
name: gaze palsy, familial horizontal, with progressive scoliosis 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "gaze palsy, familial horizontal, with progressive scoliosis 1" EXACT CLINGEN_LABEL [OMIM:607313]
synonym: "gaze palsy, familial horizontal, with progressive scoliosis, 1" EXACT [OMIM:607313, OMIM:genemap2]
synonym: "HGPPS" EXACT ABBREVIATION [OMIM:607313]
synonym: "HGPPS1" EXACT ABBREVIATION [OMIM:607313]
synonym: "Ophthalmoplegia, Progressive External, and Scoliosis" RELATED [OMIM:607313]
xref: MEDGEN:1647423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607313 {source="MONDO:equivalentTo"}
xref: Orphanet:2744 {source="OMIM:607313"}
xref: UMLS:C4551964 {source="MONDO:equivalentTo", source="MEDGEN:1647423", source="MONDO:MEDGEN"}
is_a: MONDO:0011810 {source="OMIM:607313"} ! horizontal gaze palsy with progressive scoliosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13433 {source="MONDO:mim2gene_medgen"} ! ROBO3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020791
name: corneal dystrophy, Meesmann, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Corneal Dystrophy, Juvenile Epithelial, of Meesmann" RELATED [OMIM:122100]
synonym: "Corneal Dystrophy, Meesmann Epithelial" RELATED [OMIM:122100]
synonym: "CORNEAL DYSTROPHY, MEESMANN, 1" RELATED [OMIM:122100]
synonym: "MECD1" RELATED ABBREVIATION [OMIM:122100]
synonym: "Meesmann Corneal Dystrophy" RELATED [OMIM:122100]
synonym: "meesmann corneal dystrophy 1" EXACT [OMIM:122100, OMIM:genemap2]
xref: DOID:0080670 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:122100 {source="MONDO:equivalentTo"}
xref: Orphanet:98954 {source="OMIM:122100"}
xref: UMLS:C5231499 {source="MEDGEN:1684668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007379 {source="OMIM:122100"} ! Meesmann corneal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020792
name: dwarfism with tall vertebrae
subset: n_of_one
xref: MEDGEN:338839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535725 {source="MONDO:equivalentTo"}
xref: OMIM:126950 {source="MONDO:equivalentTo"}
xref: Orphanet:2661 {source="OMIM:126950"}
xref: UMLS:C1851996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338839"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0020793
name: oculopharyngodistal myopathy 1
subset: gard_rare {source="GARD:15097", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" EXACT [OMIM:164310]
synonym: "oculopharyngodistal myopathy" BROAD [OMIM:164310]
synonym: "oculopharyngodistal myopathy 1" EXACT [OMIM:164310]
synonym: "OPDM1" EXACT ABBREVIATION [OMIM:164310]
xref: DOID:0081297 {source="MONDO:equivalentTo"}
xref: GARD:15097 {source="MONDO:GARD"}
xref: MEDGEN:1684682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200219 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:164310 {source="MONDO:equivalentTo"}
xref: UMLS:C5231388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684682"}
is_a: MONDO:0025193 {source="OMIM:164310"} ! oculopharyngodistal myopathy

[Term]
id: MONDO:0020794
name: colorectal medullary carcinoma
def: "A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." [NCIT:C43590]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal medullary carcinoma" EXACT [NCIT:C43590]
xref: MEDGEN:317525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43590 {source="MONDO:equivalentTo"}
xref: UMLS:C1707438 {source="MEDGEN:317525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005008 {source="NCIT:C43590"} ! colorectal adenocarcinoma

[Term]
id: MONDO:0020795
name: Silver-Russell syndrome 5
subset: gard_rare {source="GARD:18465", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SILVER-RUSSELL SYNDROME 5" EXACT [OMIM:618908]
synonym: "Silver-Russell syndrome 5" EXACT CLINGEN_LABEL []
synonym: "SRS5" EXACT ABBREVIATION [OMIM:618908]
xref: GARD:18465 {source="MONDO:GARD"}
xref: MEDGEN:1713787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618908 {source="MONDO:equivalentTo"}
xref: UMLS:C5394456 {source="MEDGEN:1713787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008394 {source="OMIM:618908"} ! Silver-Russell syndrome

[Term]
id: MONDO:0020796
name: Silver-Russell syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SRS1" EXACT ABBREVIATION []
xref: MEDGEN:1718472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:180860 {source="MONDO:equivalentTo"}
xref: UMLS:C5393125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718472"}
is_a: MONDO:0008394 {source="OMIM:618908"} ! Silver-Russell syndrome

[Term]
id: MONDO:0020797
name: decompression sickness
def: "A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death." [MESH:D003665]
synonym: "Bends" RELATED [MESH:D003665]
synonym: "bends" EXACT []
synonym: "CAISSON DIS" RELATED [MESH:D003665]
synonym: "Caisson Disease" RELATED [MESH:D003665]
synonym: "Caisson disease" RELATED [UMLS:C0011119]
synonym: "caisson disease" RELATED []
synonym: "Caisson Diseases" RELATED [MESH:D003665]
synonym: "Compressed air disease" RELATED [UMLS:C0011119]
synonym: "Compressed-air disease" RELATED [UMLS:C0011119]
synonym: "compressed-air disease" RELATED []
synonym: "Decompression Sickness" RELATED [MESH:D003665]
synonym: "Decompression sickness" RELATED [UMLS:C0011119]
synonym: "decompression sickness" EXACT []
synonym: "Disease, Caisson" RELATED [MESH:D003665]
synonym: "Diseases, Caisson" RELATED [MESH:D003665]
synonym: "Divers' palsy" RELATED [UMLS:C0011119]
synonym: "divers' palsy" RELATED []
synonym: "Divers' paralysis" RELATED [UMLS:C0011119]
synonym: "divers' paralysis" RELATED []
synonym: "Rapture of the deep syndrome" RELATED [UMLS:C0011119]
synonym: "Sickness, Decompression" RELATED [MESH:D003665]
synonym: "The bends" RELATED [UMLS:C0011119]
synonym: "the bends" RELATED []
xref: ICD9:993.3
xref: MEDGEN:41434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003665 {source="UMLS:C0011119", source="MONDO:equivalentTo"}
xref: SCTID:48620000 {source="UMLS:C0011119"}
xref: SCTID:89684003 {source="UMLS:C0011119", source="MONDO:equivalentTo"}
xref: UMLS:C0011119 {source="MEDGEN:41434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002570 {source="UMLS:C0011119"} ! high pressure neurological syndrome
relationship: realized_in_response_to ECTO:4000025 ! exposure to increased pressure

[Term]
id: MONDO:0020798
name: hypoparathyroidism, familial isolated, 2
subset: gard_rare {source="GARD:18257", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FIH2" EXACT ABBREVIATION [OMIM:618883]
synonym: "hypoparathyroidism, familial isolated 2" EXACT [OMIM:618883, OMIM:genemap2]
synonym: "hypoparathyroidism, familial isolated, 2" EXACT [OMIM:618883]
xref: GARD:18257 {source="MONDO:GARD"}
xref: MEDGEN:1715177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618883 {source="MONDO:equivalentTo"}
xref: UMLS:C5394383 {source="MEDGEN:1715177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016390 {source="OMIM:618883", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism
intersection_of: MONDO:0016390 ! familial hypoparathyroidism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4198 ! GCM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020799
name: basal cell neoplasm
def: "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas." [NCIT:C3784]
subset: otar {source="MONDO:OTAR"}
synonym: "basal cell tumor" EXACT [NCIT:C3784]
synonym: "basal cell tumour" EXACT OMO:0003005 []
synonym: "neoplasm, basal cell" RELATED [MESH:D018295]
xref: EFO:1001763 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8090/1 {source="NCIT:C3784"}
xref: MEDGEN:104921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018295 {source="MONDO:equivalentTo"}
xref: NCIT:C3784 {source="MONDO:equivalentTo"}
xref: SCTID:127570002 {source="MONDO:equivalentTo"}
xref: UMLS:C0206710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104921"}
is_a: MONDO:0005626 {source="MESH:D018295", source="NCIT:C3784"} ! epithelial neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000646 ! basal cell

[Term]
id: MONDO:0020800
name: demyelinating disease of central nervous system
def: "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system." [NCIT:C34526]
synonym: "demyelinating CNS disease" EXACT [GARD:0012052, UMLS:C0011302]
synonym: "demyelinating disease central nervous system (CNS)" EXACT [UMLS:C0011302]
synonym: "demyelinating disease of central nervous system" EXACT [NCIT:C34526, UMLS:C0011302]
synonym: "demyelinating disorder of central nervous system" EXACT [NCIT:C34526]
synonym: "demyelinating disorders of the central nervous system" EXACT [UMLS:C0011302]
xref: ICD10CM:G35-G37 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:341.8
xref: ICD9:341.9
xref: MEDGEN:3719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34526 {source="MONDO:equivalentTo", source="UMLS:C0011302"}
xref: SCTID:6118003 {source="MONDO:equivalentTo", source="GARD:0012052", source="UMLS:C0011302"}
xref: UMLS:C0011302 {source="MEDGEN:3719", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002562 {source="NCIT:C34526", source="UMLS:C0011302"} ! demyelinating disease
property_value: IAO:0000233 "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/44" xsd:anyURI

[Term]
id: MONDO:0020801
name: rectal medullary carcinoma
def: "A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." [NCIT:C60640]
synonym: "rectal medullary carcinoma" EXACT [NCIT:C60640]
xref: MEDGEN:364314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C60640 {source="MONDO:equivalentTo"}
xref: UMLS:C1882915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:364314"}
is_a: MONDO:0002169 {source="NCIT:C60640"} ! rectum adenocarcinoma
is_a: MONDO:0020794 {source="NCIT:C60640"} ! colorectal medullary carcinoma
intersection_of: MONDO:0020794 ! colorectal medullary carcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0020802
name: obsolete basal cell cancer
def: "OBSOLETE. A neoplasm composed of basal cells that metastasizes to other anatomic sites." [NCIT:C7586]
comment: Obsoleted as it is equivalent to basal cell carcinoma. See https://github.com/monarch-initiative/mondo/issues/2495
is_obsolete: true
replaced_by: MONDO:0020804

[Term]
id: MONDO:0020803
name: obsolete bundle branch block
def: "OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart." [Wikipedia:Bundle_branch_block]
xref: NANDO:2100046 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200215 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:6374002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 IAO:0000423
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2536" xsd:anyURI
is_obsolete: true
consider: HP:0011710

[Term]
id: MONDO:0020804
name: basal cell carcinoma
def: "A carcinoma involving the basal cells." [NCIT:C156767]
subset: otar {source="MONDO:OTAR"}
synonym: "basal cell cancer" EXACT []
synonym: "epithelioma, basal cell" EXACT [MESH:D002280]
synonym: "malignant basal cell neoplasm" EXACT [NCIT:C7586]
synonym: "rodent ulcer" RELATED EXCLUDE [MESH:D002280]
synonym: "ulcer, rodent" RELATED EXCLUDE [MESH:D002280]
xref: EFO:0004193 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:2870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002280 {source="MONDO:equivalentTo"}
xref: NCIT:C156767 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C7586 {source="MONDO:equivalentTo"}
xref: UMLS:C0007117 {source="MEDGEN:2870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="NCIT:C7586"} ! cancer
is_a: MONDO:0004993 {source="MESH:D002280", source="NCIT:C156767"} ! carcinoma
is_a: MONDO:0020799 {source="MESH:D002280", source="NCIT:C7586"} ! basal cell neoplasm
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_arises_from_structure CL:0000646 ! basal cell

[Term]
id: MONDO:0020805
name: benign basal cell neoplasm
def: "A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites." [NCIT:C4743]
synonym: "benign basal cell tumor" EXACT []
synonym: "benign basal cell tumour" EXACT OMO:0003005 []
xref: MEDGEN:96885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4743 {source="MONDO:equivalentTo"}
xref: UMLS:C0474802 {source="MEDGEN:96885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020799 {source="NCIT:C4743"} ! basal cell neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_arises_from_structure CL:0000646 ! basal cell

[Term]
id: MONDO:0020806
name: sinoatrial block
def: "A heart block that is initiated in the sinoatrial node." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Sinoatrial_block]
xref: MEDGEN:19984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012848 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: SCTID:65778007 {source="MONDO:equivalentTo"}
xref: UMLS:C0037188 {source="MONDO:equivalentTo", source="MEDGEN:19984", source="MONDO:MEDGEN"}
is_a: MONDO:0000992 {source="Wikipedia:Heart_block", source="https://github.com/monarch-initiative/mondo/issues/2536", source="https://orcid.org/0000-0001-5208-3432"} ! heart conduction disease

[Term]
id: MONDO:0020807
name: ovarian sertoli-stromal cell tumor
def: "A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells." [NCIT:P378]
synonym: "Ovarian Sertoli-Stromal Cell Tumor" EXACT [NCIT:C39966]
synonym: "Ovarian Sertoli-Stromal Cell Tumour" EXACT OMO:0003005 []
synonym: "Ovarian Sertoli-Stromal Tumor" EXACT [NCIT:C39966]
synonym: "Ovarian Sertoli-Stromal Tumour" EXACT OMO:0003005 []
xref: MEDGEN:309515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39966 {source="MONDO:equivalentTo"}
xref: UMLS:C1518732 {source="MEDGEN:309515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021657 {source="NCIT:C39966"} ! ovarian sex cord-stromal tumor

[Term]
id: MONDO:0020808
name: testicular sertoli cell tumor
def: "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." []
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Sertoli Cell Neoplasm of Testis" EXACT []
synonym: "Sertoli Cell Neoplasm of the Testis" EXACT []
synonym: "Sertoli Cell Tumor of Testis" EXACT []
synonym: "Sertoli Cell Tumor of the Testis" EXACT []
synonym: "Sertoli Cell Tumour of Testis" EXACT OMO:0003005 []
synonym: "Sertoli Cell Tumour of the Testis" EXACT OMO:0003005 []
synonym: "Testicular Sertoli Cell Neoplasm" EXACT []
synonym: "Testicular Sertoli Cell Tumor" EXACT []
synonym: "Testicular Sertoli Cell Tumor, NOS" EXACT []
synonym: "Testicular Sertoli Cell Tumor, Not Otherwise Specified" EXACT []
synonym: "Testicular Sertoli Cell Tumour" EXACT OMO:0003005 []
xref: MEDGEN:91165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4672 {source="MONDO:equivalentTo"}
xref: UMLS:C0349671 {source="MEDGEN:91165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002696 {source="NCIT:C4672"} ! Sertoli cell tumor
is_a: MONDO:0003125 {source="NCIT:C4672"} ! testicular sex cord-stromal neoplasm
intersection_of: MONDO:0002696 ! Sertoli cell tumor
intersection_of: disease_arises_from_structure UBERON:0000473 ! testis

[Term]
id: MONDO:0020809
name: benign sertoli cell tumor
def: "A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site." [NCIT:P378]
synonym: "Benign Androblastoma" EXACT []
synonym: "Benign Sertoli Cell Tumor" EXACT []
synonym: "Benign Sertoli Cell Tumour" EXACT OMO:0003005 []
synonym: "SERTOLI CELL TUMOR, BENIGN" EXACT []
xref: ICDO:8630/0 {source="NCIT:C67012"}
xref: MEDGEN:361204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C67012 {source="MONDO:equivalentTo"}
xref: UMLS:C1879826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:361204"}
is_a: MONDO:0000383 {source="NCIT:C67012"} ! benign reproductive system neoplasm
is_a: MONDO:0002696 {source="NCIT:C67012"} ! Sertoli cell tumor
intersection_of: MONDO:0002696 {source="NCIT:C67012"} ! Sertoli cell tumor
intersection_of: has_characteristic PATO:0002096 {source="NCIT:C67012"} ! neoplastic, non-malignant

[Term]
id: MONDO:0020810
name: obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/767" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020628

[Term]
id: MONDO:0020811
name: mitochondrial complex III deficiency, nuclear type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:124000 {source="MONDO:equivalentTo"}
is_a: MONDO:0015448 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex III deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:124000"} ! inherited

[Term]
id: MONDO:0020812
name: exposure, dental pulp
def: "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." [MESH:D003789]
synonym: "DENT PULP EXPOSURE" RELATED [MESH:D003789]
synonym: "Dental Pulp Exposure" RELATED [MESH:D003789]
synonym: "EXPOSURE DENT PULP" RELATED [MESH:D003789]
synonym: "Exposure of tooth pulp" RELATED [UMLS:C0011406]
synonym: "Exposure, Dental Pulp" RELATED [MESH:D003789]
synonym: "PULP EXPOSURE DENT" RELATED [MESH:D003789]
synonym: "Pulp Exposure, Dental" RELATED [MESH:D003789]
xref: MEDGEN:41473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003789 {source="UMLS:C0011406", source="MONDO:equivalentTo"}
xref: SCTID:370484007 {source="UMLS:C0011406"}
xref: UMLS:C0011406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41473"}
is_a: MONDO:0003394 {source="MESH:D003789"} ! dental pulp disorder

[Term]
id: MONDO:0020813
name: benign testicular sertoli cell tumor
def: "A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent." [NCIT:C6522]
subset: inferred_rare
subset: rare
synonym: "benign sertoli cell neoplasm of testis" EXACT [NCIT:C6522]
synonym: "benign sertoli cell neoplasm of the testis" EXACT [NCIT:C6522]
synonym: "benign sertoli cell tumor of testis" EXACT [NCIT:C6522]
synonym: "benign sertoli cell tumor of the testis" EXACT [NCIT:C6522]
synonym: "benign sertoli cell tumour of testis" EXACT OMO:0003005 []
synonym: "benign sertoli cell tumour of the testis" EXACT OMO:0003005 []
synonym: "benign testicular sertoli cell neoplasm" EXACT [NCIT:C6522]
synonym: "benign testicular sertoli cell tumor" EXACT [NCIT:C6522]
xref: MEDGEN:231945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6522 {source="MONDO:equivalentTo"}
xref: UMLS:C1332540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231945"}
is_a: MONDO:0020808 {source="NCIT:C6522"} ! testicular sertoli cell tumor
is_a: MONDO:0020809 {source="NCIT:C6522"} ! benign sertoli cell tumor
is_a: MONDO:0021447 {source="NCIT:C6522"} ! benign neoplasm of testis
intersection_of: MONDO:0020808 ! testicular sertoli cell tumor
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0020814
name: miliaria alba
xref: MEDGEN:590455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:201191004 {source="MONDO:equivalentTo"}
xref: UMLS:C0406493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590455"}
is_a: MONDO:0006580 {source="https://orcid.org/0000-0001-5208-3432"} ! miliaria

[Term]
id: MONDO:0020815
name: dentigerous cyst
def: "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation." [MESH:D003803]
synonym: "Cyst, Dentigerous" RELATED [MESH:D003803]
synonym: "Cysts, Dentigerous" RELATED [MESH:D003803]
synonym: "Dentigerous Cyst" RELATED [MESH:D003803]
synonym: "Dentigerous cyst" RELATED [UMLS:C0011428]
synonym: "dentigerous cyst" EXACT []
synonym: "Dentigerous cyst of jaw" RELATED [UMLS:C0011428]
synonym: "dentigerous cyst of jaw" RELATED []
synonym: "Dentigerous Cysts" RELATED [MESH:D003803]
synonym: "Dentigerous odontogenic cyst" RELATED [UMLS:C0011428]
synonym: "dentigerous odontogenic cyst" RELATED []
synonym: "follicular cyst of jaw" RELATED []
xref: MEDGEN:8309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003803 {source="UMLS:C0011428", source="MONDO:equivalentTo"}
xref: SCTID:9245008 {source="UMLS:C0011428", source="MONDO:equivalentTo"}
xref: UMLS:C0011428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8309"}
is_a: MONDO:0006328 {source="MESH:D003803"} ! odontogenic cyst

[Term]
id: MONDO:0020816
name: miliaria papulosa
xref: MEDGEN:590456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:201192006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590456"}
is_a: MONDO:0006580 {source="https://orcid.org/0000-0001-5208-3432"} ! miliaria

[Term]
id: MONDO:0020817
name: miliaria vesiculosa
xref: MEDGEN:590457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:201195008 {source="MONDO:equivalentTo"}
xref: UMLS:C0406495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590457"}
is_a: MONDO:0006580 {source="https://orcid.org/0000-0001-5208-3432"} ! miliaria

[Term]
id: MONDO:0020818
name: secondary dentine
def: "Dentin formed by normal pulp after completion of root end formation." [MESH:D003809]
synonym: "DENTIN SECOND" RELATED [MESH:D003809]
synonym: "Dentin, Secondary" RELATED [MESH:D003809]
synonym: "Dentins, Secondary" RELATED [MESH:D003809]
synonym: "Irregular dentin" RELATED [UMLS:C0011434]
synonym: "irregular dentin" RELATED []
synonym: "Irregular dentine" RELATED [UMLS:C0011434]
synonym: "irregular dentine" RELATED []
synonym: "Reparative dentine" RELATED [UMLS:C0011434]
synonym: "reparative dentine" RELATED []
synonym: "Sclerotic dentine" RELATED [UMLS:C0011434]
synonym: "sclerotic dentine" RELATED []
synonym: "SECOND DENTIN" RELATED [MESH:D003809]
synonym: "Secondary Dentin" RELATED [MESH:D003809]
synonym: "Secondary dentin" RELATED [UMLS:C0011434]
synonym: "secondary dentin" EXACT []
synonym: "Secondary dentine" RELATED [UMLS:C0011434]
synonym: "secondary dentine" EXACT []
synonym: "Secondary Dentins" RELATED [MESH:D003809]
synonym: "Tertiary dentine" RELATED [UMLS:C0011434]
synonym: "tertiary dentine" RELATED []
xref: MEDGEN:3746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003809 {source="MONDO:equivalentTo", source="UMLS:C0011434"}
xref: SCTID:59818004 {source="MONDO:equivalentTo", source="UMLS:C0011434"}
xref: UMLS:C0011434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3746"}
is_a: MONDO:0003394 {source="MESH:D003809"} ! dental pulp disorder

[Term]
id: MONDO:0020820
name: distal arthrogryposis type 2B1
subset: gard_rare {source="GARD:9909", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis, distal, type 2B1" EXACT [OMIM:601680, OMIM:genemap2]
synonym: "DA2B1" EXACT ABBREVIATION [DOID:0111600]
xref: DOID:0111600 {source="MONDO:equivalentTo"}
xref: GARD:9909 {source="MONDO:GARD"}
xref: MEDGEN:1676961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601680 {source="DOID:0111600", source="Orphanet:1147", source="MONDO:equivalentTo", source="Orphanet:1147/e"}
xref: UMLS:C5193014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676961"}
is_a: MONDO:0000426 {source="DOID:0111600"} ! autosomal dominant disease
is_a: MONDO:0011128 {source="DOID:0111600"} ! Sheldon-hall syndrome
relationship: has_characteristic HP:0000006 {source="DOID:0111600"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020823
name: infantile miliaria
xref: MEDGEN:697609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:402824003 {source="MONDO:equivalentTo"}
xref: UMLS:C1274264 {source="MEDGEN:697609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006580 {source="https://orcid.org/0000-0001-5208-3432"} ! miliaria

[Term]
id: MONDO:0020830
name: diaphragmitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diaphragmatitis" EXACT [UMLS:C0011985]
synonym: "diaphragmitis" EXACT [UMLS:C0011985]
xref: MEDGEN:507638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:73160007 {source="MONDO:equivalentTo", source="UMLS:C0011985"}
xref: UMLS:C0011985 {source="MEDGEN:507638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005728 ! diaphragm disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001103 ! diaphragm

[Term]
id: MONDO:0020831
name: congenital vertebral-cardiac-renal anomalies syndrome
subset: gard_rare {source="GARD:17961", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521438"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:521438"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "VCRL" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "vertebral, cardiac, renal, and limb defects syndrome" EXACT [OMIMPS:617660]
xref: GARD:17961 {source="MONDO:GARD"}
xref: MEDGEN:1814457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:617660 {source="MONDO:equivalentTo"}
xref: Orphanet:521438 {source="MONDO:equivalentTo"}
xref: UMLS:C5680183 {source="MEDGEN:1814457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015161 {source="Orphanet:521438"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: has_characteristic HP:0000007 {source="Orphanet:521438"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617660"} ! inherited

[Term]
id: MONDO:0020835
name: methemoglobinemia, alpha type
subset: gard_rare {source="GARD:16277", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "methemoglobinemia, alpha type" EXACT [OMIM:617973]
xref: GARD:16277 {source="MONDO:GARD"}
xref: MEDGEN:1635511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617973 {source="MONDO:equivalentTo"}
xref: Orphanet:330041 {source="OMIM:617973"}
xref: UMLS:C4693798 {source="MEDGEN:1635511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018963 {source="https://github.com/monarch-initiative/mondo/issues/1612", source="https://medlineplus.gov/ency/article/000562.htm"} ! hereditary methemoglobinemia
relationship: excluded_subClassOf MONDO:0019050 {source="Orphanet:330041", source="Orphanet:330041/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! inherited hemoglobinopathy

[Term]
id: MONDO:0020836
name: autism, susceptiblity to
subset: predisposition
xref: OMIMPS:209850 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005260 ! autism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:209850"} ! inherited

[Term]
id: MONDO:0020837
name: oocyte maturation defect 5
synonym: "oocyte maturation defect 5" EXACT [OMIM:617996]
synonym: "OOMD5" EXACT ABBREVIATION [OMIM:617996]
xref: MEDGEN:1644330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617996 {source="MONDO:equivalentTo"}
xref: UMLS:C4693865 {source="MEDGEN:1644330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014769 {source="OMIM:617996"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0020838
name: anterior nasal diphtheria
def: "Infection of the anterior nasal structures by Corynebacterium diphtheriae." [NCIT:C34542]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Anterior Nasal Diphtheria" RELATED [NCIT:C34542]
synonym: "Anterior nasal diphtheria" RELATED [UMLS:C0012553]
synonym: "anterior nasal diphtheria" EXACT [NCIT:C34542]
xref: ICD9:032.2
xref: MEDGEN:41598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34542 {source="MONDO:equivalentTo", source="UMLS:C0012553"}
xref: SCTID:15682004 {source="MONDO:equivalentTo", source="UMLS:C0012553"}
xref: UMLS:C0012553 {source="MEDGEN:41598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005504 {source="NCIT:C34542", source="UMLS:C0012553"} ! diphtheria

[Term]
id: MONDO:0020840
name: pulmonary alveolar proteinosis with hypogammaglobulinemia
def: "A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:618042, PMID:29455859]
synonym: "immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemia" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "PAPHG" EXACT ABBREVIATION [OMIM:618042]
synonym: "pulmonary alveolar proteinosis with hypogammaglobulinemia" EXACT [OMIM:618042]
xref: MEDGEN:1648298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618042 {source="MONDO:equivalentTo"}
xref: UMLS:C4747984 {source="MEDGEN:1648298", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0020841
name: neurodevelopmental disorder with cerebellar atrophy and with or without seizures
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "NEDCAS" EXACT ABBREVIATION [OMIM:618056]
synonym: "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" EXACT [OMIM:618056]
xref: MEDGEN:1648373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618056 {source="MONDO:equivalentTo"}
xref: UMLS:C4748032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648373"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0020842
name: obsolete medullary carcinoma
def: "OBSOLETE. Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ." [Wikipedia:Medullary_carcinoma]
xref: NCIT:C8998 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0005063
consider: MONDO:0015277

[Term]
id: MONDO:0020843
name: pseudomembranous diphtheritic conjunctivitis
def: "Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae." [NCIT:C34543]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Conjunctival diphtheria" RELATED [UMLS:C0012554]
synonym: "conjunctival diphtheria" EXACT []
synonym: "pseudomembranous diphtheritic conjunctivitis" EXACT [NCIT:C34543, UMLS:C0012554]
xref: ICD9:032.81
xref: MEDGEN:3856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34543 {source="MONDO:equivalentTo", source="UMLS:C0012554"}
xref: SCTID:7773002 {source="MONDO:equivalentTo", source="UMLS:C0012554"}
xref: UMLS:C0012554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3856"}
is_a: MONDO:0001217 {source="NCIT:C34543", source="UMLS:C0012554"} ! pseudomembranous conjunctivitis
is_a: MONDO:0005504 ! diphtheria
intersection_of: MONDO:0001217 ! pseudomembranous conjunctivitis
intersection_of: disease_has_infectious_agent NCBITaxon:1717 ! Corynebacterium diphtheriae

[Term]
id: MONDO:0020845
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PEOB5" EXACT ABBREVIATION [OMIM:618098]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" EXACT [OMIM:618098]
synonym: "progressive external ophthalmoplegia, autosomal recessive 5" EXACT [OMIM:618098]
xref: DOID:0111524 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618098 {source="MONDO:equivalentTo"}
xref: UMLS:C4748184 {source="MEDGEN:1648331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000090 {source="OMIM:618098"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions

[Term]
id: MONDO:0020846
name: intellectual disability, autosomal recessive 64
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MENTAL RETARDATION, autosomal recessive 64" EXACT [OMIM:618103]
synonym: "MRT64" EXACT ABBREVIATION [OMIM:618103]
xref: DOID:0081225 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618103 {source="MONDO:equivalentTo"}
xref: UMLS:C4748192 {source="MEDGEN:1648279", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="OMIM:618103"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0020847
name: intellectual disability, autosomal dominant 58
subset: gard_rare {source="GARD:16476", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MENTAL RETARDATION, autosomal dominant 58" EXACT [OMIM:618106]
synonym: "MRD58" EXACT ABBREVIATION [OMIM:618106]
xref: GARD:16476 {source="MONDO:GARD"}
xref: MEDGEN:1648488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618106 {source="MONDO:equivalentTo"}
xref: UMLS:C4748195 {source="MEDGEN:1648488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="OMIM:618106"} ! autosomal dominant non-syndromic intellectual disability

[Term]
id: MONDO:0020848
name: osteopetrosis, autosomal dominant 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OPTA3" EXACT ABBREVIATION [OMIM:618107]
synonym: "OSTEOPETROSIS, autosomal dominant 3" EXACT [OMIM:618107]
xref: MEDGEN:1648454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618107 {source="MONDO:equivalentTo"}
xref: UMLS:C4748197 {source="MEDGEN:1648454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017198 {source="OMIM:618107"} ! osteopetrosis
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0020849
name: immunodeficiency 57
synonym: "IMD57" EXACT ABBREVIATION [OMIM:618108]
synonym: "IMMUNODEFICIENCY 57" EXACT [OMIM:618108]
synonym: "immunodeficiency 57 with autoinflammation" EXACT [OMIM:618108, OMIM:genemap2]
xref: DOID:0111952 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618108 {source="MONDO:equivalentTo"}
xref: UMLS:C4748212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648306"}
is_a: MONDO:0021094 ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020850
name: intellectual disability, autosomal recessive 65
subset: gard_rare {source="GARD:22578", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability, autosomal recessive 65" EXACT [OMIM:618109]
synonym: "mental retardation, autosomal recessive 65" EXACT DEPRECATED [OMIM:618109]
synonym: "MRT65" EXACT DEPRECATED [OMIM:618109]
xref: DOID:0081226 {source="MONDO:equivalentTo"}
xref: GARD:22578 {source="MONDO:GARD"}
xref: MEDGEN:1648401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618109 {source="MONDO:equivalentTo"}
xref: UMLS:C4748219 {source="MEDGEN:1648401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0020851
name: spermatogenic failure 30
subset: gard_rare {source="GARD:16291", source="MONDO:GARD"}
subset: rare
synonym: "spermatogenic failure 30" EXACT [OMIM:618110]
synonym: "SPGF30" EXACT ABBREVIATION [OMIM:618110]
xref: DOID:0111913 {source="MONDO:equivalentTo"}
xref: GARD:16291 {source="MONDO:GARD"}
xref: MEDGEN:1648394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618110 {source="MONDO:equivalentTo"}
xref: UMLS:C4748224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648394"}
is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure

[Term]
id: MONDO:0020852
name: spermatogenic failure 31
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure 31" EXACT [OMIM:618112]
synonym: "SPGF31" EXACT ABBREVIATION [OMIM:618112]
xref: DOID:0111922 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618112 {source="MONDO:equivalentTo"}
xref: UMLS:C4748234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648419"}
is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure

[Term]
id: MONDO:0020853
name: encephalitis/encephalopathy, mild, with reversible myelin vacuolization
subset: otar {source="MONDO:OTAR"}
synonym: "encephalitis/encephalopathy, mild, with reversible myelin vacuolization" EXACT [OMIM:618113]
synonym: "Encephalitis/encephalopathy, mild, with reversible splenial lesion" EXACT [OMIM:618113]
synonym: "MMERV" EXACT ABBREVIATION [OMIM:618113]
xref: MEDGEN:1648328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618113 {source="MONDO:equivalentTo"}
xref: UMLS:C4722446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648328"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0020854
name: Liddle syndrome 2
def: "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Liddle syndrome 2" EXACT [OMIM:618114]
synonym: "Liddle syndrome caused by mutation in SCNN1G" EXACT []
synonym: "LIDLS2" EXACT ABBREVIATION [OMIM:618114]
synonym: "SCNN1G Liddle syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:1648476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618114 {source="MONDO:equivalentTo"}
xref: UMLS:C4748251 {source="MEDGEN:1648476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0008323 ! Liddle syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 ! SCNN1G
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 {source="MONDO:mim2gene_medgen"} ! SCNN1G

[Term]
id: MONDO:0020855
name: spermatogenic failure 32
subset: gard_rare {source="GARD:16292", source="MONDO:GARD"}
subset: rare
synonym: "spermatogenic failure 32" EXACT [OMIM:618115]
synonym: "SPGF32" EXACT ABBREVIATION [OMIM:618115]
xref: DOID:0111925 {source="MONDO:equivalentTo"}
xref: GARD:16292 {source="MONDO:GARD"}
xref: MEDGEN:1648444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618115 {source="MONDO:equivalentTo"}
xref: UMLS:C4748253 {source="MEDGEN:1648444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure

[Term]
id: MONDO:0020856
name: bone marrow failure syndrome 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BMFS4" EXACT ABBREVIATION [OMIM:618116]
synonym: "BONE MARROW FAILURE SYNDROME 4" EXACT [OMIM:618116]
xref: MEDGEN:1648485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618116 {source="MONDO:equivalentTo"}
xref: UMLS:C4748257 {source="MEDGEN:1648485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000159 {source="https://orcid.org/0000-0001-5208-3432"} ! bone marrow failure syndrome

[Term]
id: MONDO:0020857
name: ovarian dysgenesis 7
subset: gard_rare {source="GARD:18043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ODG7" EXACT ABBREVIATION [OMIM:618117]
synonym: "OVARIAN DYSGENESIS 7" EXACT [OMIM:618117]
xref: DOID:0080499 {source="MONDO:equivalentTo"}
xref: GARD:18043 {source="MONDO:GARD"}
xref: MEDGEN:1648458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618117 {source="MONDO:equivalentTo"}
xref: UMLS:C4748263 {source="MEDGEN:1648458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009299 ! 46 XX gonadal dysgenesis

[Term]
id: MONDO:0020858
name: mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
subset: gard_rare {source="GARD:18670", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC5DN5" EXACT ABBREVIATION [OMIM:618120]
synonym: "Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type" EXACT [OMIM:618120]
synonym: "mitochondrial complex v (atp synthase) deficiency" EXACT [OMIM:618120, OMIM:genemap2]
synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5" EXACT [OMIM:618120]
xref: DOID:0070463 {source="MONDO:equivalentTo"}
xref: GARD:18670 {source="MONDO:GARD"}
xref: MEDGEN:1648429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618120 {source="MONDO:equivalentTo"}
xref: UMLS:C4748269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648429"}
is_a: MONDO:0000066 ! mitochondrial complex deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0020860
name: faucial diphtheria
def: "Infection of the fauces by Corynebacterium diphtheriae." [NCIT:C34545]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Diphtheritic membrane" RELATED [UMLS:C0012556]
synonym: "diphtheritic membrane" RELATED []
synonym: "Diphtheritic membranous angina" RELATED [UMLS:C0012556]
synonym: "diphtheritic membranous angina" RELATED []
synonym: "Faucial Diphtheria" RELATED [NCIT:C34545]
synonym: "Faucial diphtheria" RELATED [UMLS:C0012556]
synonym: "faucial diphtheria" EXACT [NCIT:C34545]
xref: ICD9:032.0
xref: MEDGEN:3857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34545 {source="MONDO:equivalentTo", source="UMLS:C0012556"}
xref: SCTID:3419005 {source="MONDO:equivalentTo", source="UMLS:C0012556"}
xref: UMLS:C0012556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3857"}
intersection_of: MONDO:0005504 ! diphtheria
intersection_of: disease_has_location UBERON:0000341 ! throat

[Term]
id: MONDO:0020863
name: laryngeal diphtheria
def: "Infection of the larynx by Corynebacterium diphtheriae." [NCIT:C34546]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Diphtheritic laryngotracheitis" RELATED [UMLS:C0012557]
synonym: "diphtheritic laryngotracheitis" RELATED []
synonym: "Laryngeal Diphtheria" RELATED [NCIT:C34546]
synonym: "Laryngeal diphtheria" RELATED [UMLS:C0012557]
synonym: "laryngeal diphtheria" EXACT [NCIT:C34546]
xref: ICD9:032.3
xref: MEDGEN:4336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34546 {source="MONDO:equivalentTo", source="UMLS:C0012557"}
xref: SCTID:50215002 {source="MONDO:equivalentTo", source="UMLS:C0012557"}
xref: UMLS:C0012557 {source="MEDGEN:4336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004382 ! laryngeal disorder
intersection_of: MONDO:0005504 ! diphtheria
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0020866
name: nasopharyngeal diphtheria
def: "Infection of the nasopharynx by Corynebacterium diphtheriae." [NCIT:C34547]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Nasopharyngeal Diphtheria" RELATED [NCIT:C34547]
synonym: "Nasopharyngeal diphtheria" RELATED [UMLS:C0012558]
synonym: "nasopharyngeal diphtheria" EXACT [NCIT:C34547]
xref: ICD9:032.1
xref: MEDGEN:4337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34547 {source="MONDO:equivalentTo", source="UMLS:C0012558"}
xref: SCTID:75589004 {source="MONDO:equivalentTo", source="UMLS:C0012558"}
xref: UMLS:C0012558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4337"}
is_a: MONDO:0004821 ! nasopharyngeal disorder
intersection_of: MONDO:0005504 ! diphtheria
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0020871
name: obsolete name syndrome
xref: Orphanet:623 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
replaced_by: MONDO:0015285

[Term]
id: MONDO:0020920
name: escherichia coli infection
def: "Infection with the organism Escherichia Coli." [NCIT:C34594]
subset: otar {source="MONDO:OTAR"}
synonym: "Bacterial infection caused by E. coli" RELATED [UMLS:C0014836]
synonym: "Bacterial infection due to E. coli" RELATED [UMLS:C0014836]
synonym: "Colibacillosis" RELATED [UMLS:C0014836]
synonym: "E COLI INFECT" RELATED [MESH:D004927]
synonym: "E Coli Infection" RELATED [NCIT:C34594]
synonym: "E coli Infection" RELATED [MESH:D004927]
synonym: "e coli infection" EXACT [NCIT:C34594]
synonym: "E coli Infections" RELATED [MESH:D004927]
synonym: "E coli infections" RELATED [GTR:AN0485754, HP:0002740]
synonym: "E coli infections, recurrent" RELATED [GTR:AN0485755, HP:0002740]
synonym: "E. coli Infection" RELATED [MESH:D004927]
synonym: "E. coli infection" RELATED [UMLS:C0014836]
synonym: "E. coli Infections" RELATED [MESH:D004927]
synonym: "ESCHERICHIA COLI INFECT" RELATED [MESH:D004927]
synonym: "Escherichia Coli Infection" RELATED [NCIT:C34594]
synonym: "Escherichia coli Infection" RELATED [MESH:D004927]
synonym: "Escherichia coli infection" RELATED [UMLS:C0014836]
synonym: "escherichia coli infection" EXACT [NCIT:C34594]
synonym: "Escherichia coli Infections" RELATED [MESH:D004927]
synonym: "INFECT E COLI" RELATED [MESH:D004927]
synonym: "INFECT ESCHERICHIA COLI" RELATED [MESH:D004927]
synonym: "Infection caused by Escherichia coli" RELATED [UMLS:C0014836]
synonym: "Infection due to Escherichia coli" RELATED [UMLS:C0014836]
synonym: "Infection, E coli" RELATED [MESH:D004927]
synonym: "Infection, E. coli" RELATED [MESH:D004927]
synonym: "Infection, Escherichia coli" RELATED [MESH:D004927]
synonym: "Infections, E coli" RELATED [MESH:D004927]
synonym: "Infections, Escherichia coli" RELATED [MESH:D004927]
synonym: "Recurrent E. coli infections" RELATED [GTR:AN0474198, HP:0002740]
xref: EFO:1001318 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GTR:AN0474198 {source="UMLS:C0014836"}
xref: GTR:AN0485754 {source="UMLS:C0014836"}
xref: GTR:AN0485755 {source="UMLS:C0014836"}
xref: HP:0002740 {source="UMLS:C0014836"}
xref: MEDGEN:4543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004927 {source="MONDO:equivalentTo", source="UMLS:C0014836"}
xref: NCIT:C34594 {source="MONDO:equivalentTo", source="UMLS:C0014836"}
xref: SCTID:71057007 {source="MONDO:equivalentTo", source="UMLS:C0014836"}
xref: UMLS:C0014836 {source="MEDGEN:4543", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="NCIT:C34594", source="UMLS:C0014836"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:562 ! Escherichia coli

[Term]
id: MONDO:0020927
name: postaxial polydactyly
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:67394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:174200 {source="MONDO:equivalentTo"}
xref: UMLS:C0220697 {source="MONDO:equivalentTo", source="MEDGEN:67394", source="MONDO:MEDGEN"}
is_a: MONDO:0011348 {source="https://orcid.org/0000-0002-6601-2165"} ! non-syndromic polydactyly
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:174200"} ! inherited

[Term]
id: MONDO:0020937
name: contractures, pterygia, and variable skeletal fusions syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: OMIMPS:178110 {source="MONDO:equivalentTo"}
is_a: MONDO:0017415 ! multiple pterygium syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:178110"} ! inherited

[Term]
id: MONDO:0020944
name: fungal infection of eye
def: "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses." [MESH:D015821]
synonym: "EYE INFECT FUNGAL" RELATED [MESH:D015821]
synonym: "Eye Infection, Fungal" RELATED [MESH:D015821]
synonym: "Eye Infections, Fungal" RELATED [MESH:D015821]
synonym: "FUNGAL EYE INFECT" RELATED [MESH:D015821]
synonym: "Fungal Eye Infection" RELATED [MESH:D015821]
synonym: "Fungal eye infection" RELATED [UMLS:C0015405]
synonym: "fungal eye infection" RELATED []
synonym: "Fungal Eye Infections" RELATED [MESH:D015821]
synonym: "Fungal infection of eye" RELATED [UMLS:C0015405]
synonym: "fungal infection of eye" EXACT []
synonym: "Fungal Ocular Infection" RELATED [MESH:D015821]
synonym: "Fungal Ocular Infections" RELATED [MESH:D015821]
synonym: "Infection, Fungal Eye" RELATED [MESH:D015821]
synonym: "Infection, Fungal Ocular" RELATED [MESH:D015821]
synonym: "Infection, Ocular Mycotic" RELATED [MESH:D015821]
synonym: "Infections, Fungal Eye" RELATED [MESH:D015821]
synonym: "Infections, Fungal Ocular" RELATED [MESH:D015821]
synonym: "Infections, Ocular Mycotic" RELATED [MESH:D015821]
synonym: "Mycoses, Ocular" RELATED [MESH:D015821]
synonym: "Mycosis, Ocular" RELATED [MESH:D015821]
synonym: "MYCOTIC INFECT OCULAR" RELATED [MESH:D015821]
synonym: "Mycotic Infection, Ocular" RELATED [MESH:D015821]
synonym: "Mycotic Infections, Ocular" RELATED [MESH:D015821]
synonym: "OCULAR INFECT FUNGAL" RELATED [MESH:D015821]
synonym: "Ocular Infection, Fungal" RELATED [MESH:D015821]
synonym: "Ocular Infections, Fungal" RELATED [MESH:D015821]
synonym: "Ocular Mycoses" RELATED [MESH:D015821]
synonym: "Ocular Mycosis" RELATED [MESH:D015821]
synonym: "Ocular mycosis" RELATED [UMLS:C0015405]
synonym: "ocular mycosis" RELATED []
synonym: "Ocular Mycotic Infection" RELATED [MESH:D015821]
synonym: "Ocular Mycotic Infections" RELATED [MESH:D015821]
synonym: "Oculomycoses" RELATED [MESH:D015821]
synonym: "Oculomycosis" RELATED [MESH:D015821]
xref: ICD9:117.9
xref: MEDGEN:41935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015821 {source="MONDO:equivalentTo", source="UMLS:C0015405"}
xref: SCTID:31194008 {source="MONDO:equivalentTo", source="UMLS:C0015405"}
xref: UMLS:C0015405 {source="MEDGEN:41935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="MESH:D015821"} ! fungal infectious disease
is_a: MONDO:0043885 {source="MESH:D015821"} ! eye infectious disorder
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: disease_has_location UBERON:0000970 ! eye

[Term]
id: MONDO:0020947
name: parasitic eye infection
def: "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." [MESH:D015822]
subset: otar {source="MONDO:OTAR"}
synonym: "EYE INFECT PARASITIC" RELATED [MESH:D015822]
synonym: "Eye Infection, Parasitic" RELATED [MESH:D015822]
synonym: "Eye Infections, Parasitic" RELATED [MESH:D015822]
synonym: "Infection, Parasitic Eye" RELATED [MESH:D015822]
synonym: "Infection, Parasitic Ocular" RELATED [MESH:D015822]
synonym: "Infections, Parasitic Eye" RELATED [MESH:D015822]
synonym: "Infections, Parasitic Ocular" RELATED [MESH:D015822]
synonym: "OCULAR INFECT PARASITIC" RELATED [MESH:D015822]
synonym: "Ocular Infection, Parasitic" RELATED [MESH:D015822]
synonym: "Ocular Infections, Parasitic" RELATED [MESH:D015822]
synonym: "PARASITIC EYE INFECT" RELATED [MESH:D015822]
synonym: "Parasitic Eye Infection" RELATED [MESH:D015822]
synonym: "Parasitic eye infection" RELATED [UMLS:C0015406]
synonym: "parasitic eye infection" EXACT []
synonym: "Parasitic Eye Infections" RELATED [MESH:D015822]
synonym: "Parasitic Ocular Infection" RELATED [MESH:D015822]
synonym: "Parasitic Ocular Infections" RELATED [MESH:D015822]
xref: ICD9:136.9
xref: MEDGEN:8752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015822 {source="MONDO:equivalentTo", source="UMLS:C0015406"}
xref: SCTID:312418006 {source="MONDO:equivalentTo", source="UMLS:C0015406"}
xref: UMLS:C0015406 {source="MEDGEN:8752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="MESH:D015822"} ! parasitic infectious disease
is_a: MONDO:0043885 {source="MESH:D015822"} ! eye infectious disorder
intersection_of: MONDO:0005135 ! parasitic infectious disease
intersection_of: disease_has_location UBERON:0000970 ! eye

[Term]
id: MONDO:0020950
name: viral eye infection
def: "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus." [MESH:D015828]
subset: otar {source="MONDO:OTAR"}
synonym: "EYE INFECT VIRAL" RELATED [MESH:D015828]
synonym: "Eye Infection, Viral" RELATED [MESH:D015828]
synonym: "Eye Infections, Viral" RELATED [MESH:D015828]
synonym: "Infection, Viral Eye" RELATED [MESH:D015828]
synonym: "Infection, Viral Ocular" RELATED [MESH:D015828]
synonym: "Infections, Viral Eye" RELATED [MESH:D015828]
synonym: "Infections, Viral Ocular" RELATED [MESH:D015828]
synonym: "OCULAR INFECT VIRAL" RELATED [MESH:D015828]
synonym: "Ocular Infection, Viral" RELATED [MESH:D015828]
synonym: "Ocular Infections, Viral" RELATED [MESH:D015828]
synonym: "VIRAL EYE INFECT" RELATED [MESH:D015828]
synonym: "Viral Eye Infection" RELATED [MESH:D015828]
synonym: "Viral eye infection" RELATED [UMLS:C0015407]
synonym: "viral eye infection" EXACT []
synonym: "Viral Eye Infections" RELATED [MESH:D015828]
synonym: "Viral Ocular Infection" RELATED [MESH:D015828]
synonym: "Viral Ocular Infections" RELATED [MESH:D015828]
xref: MEDGEN:8753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015828 {source="MONDO:equivalentTo", source="UMLS:C0015407"}
xref: SCTID:312132001 {source="MONDO:equivalentTo", source="UMLS:C0015407"}
xref: UMLS:C0015407 {source="MEDGEN:8753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 {source="MESH:D015828"} ! viral infectious disease
is_a: MONDO:0043885 {source="MESH:D015828"} ! eye infectious disorder
intersection_of: MONDO:0005108 ! viral infectious disease
intersection_of: disease_has_location UBERON:0000970 ! eye

[Term]
id: MONDO:0020959
name: Mansonella ozzardi infection
def: "An infection that is caused by the organism Mansonella ozzardi." [NCIT:C34612]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Filariasis ozzardi" RELATED [UMLS:C0016089]
synonym: "filariasis ozzardi" RELATED []
synonym: "mansonella ozzardi infection" EXACT [NCIT:C34612, UMLS:C0016089]
synonym: "Ozzardian filariasis" RELATED [UMLS:C0016089]
xref: ICD9:125.5
xref: MEDGEN:5183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34612 {source="UMLS:C0016089", source="MONDO:equivalentTo"}
xref: SCTID:30865009 {source="UMLS:C0016089", source="MONDO:equivalentTo"}
xref: UMLS:C0016089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5183"}
is_a: MONDO:0005838 ! mansonelliasis
is_a: MONDO:0016075 {source="NCIT:C34612", source="UMLS:C0016089"} ! filariasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:122354 ! Mansonella ozzardi

[Term]
id: MONDO:0020971
name: gonococcal urethritis
def: "Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact." [NCIT:C26787]
synonym: "gc urethritis" EXACT [NCIT:C26787]
synonym: "Gonococcal urethritis" RELATED [NCIT:C26787, UMLS:C0018078]
synonym: "gonococcal urethritis" EXACT [NCIT:C26787]
xref: MEDGEN:42278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26787 {source="UMLS:C0018078", source="MONDO:equivalentTo"}
xref: SCTID:236682002 {source="UMLS:C0018078", source="MONDO:equivalentTo"}
xref: UMLS:C0018078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42278"}
is_a: MONDO:0004277 ! gonorrhea
is_a: MONDO:0005297 {source="NCIT:C26787"} ! urethritis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
intersection_of: disease_has_inflammation_site UBERON:0000057 ! urethra

[Term]
id: MONDO:0020974
name: laryngeal granuloma
def: "A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX." [MESH:D006102]
synonym: "Granuloma of Larynx" RELATED [MESH:D006102]
synonym: "Granuloma, Laryngeal" RELATED [MESH:D006102]
synonym: "Granulomas, Laryngeal" RELATED [MESH:D006102]
synonym: "Laryngeal Granuloma" RELATED [MESH:D006102, NCIT:C3068]
synonym: "Laryngeal granuloma" RELATED [UMLS:C0018196]
synonym: "laryngeal granuloma" EXACT []
synonym: "Laryngeal Granulomas" RELATED [MESH:D006102]
synonym: "Larynx Granuloma" RELATED [MESH:D006102]
synonym: "Larynx Granulomas" RELATED [MESH:D006102]
xref: ICD9:478.79
xref: MEDGEN:6674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006102 {source="MONDO:equivalentTo", source="UMLS:C0018196"}
xref: NCIT:C3068 {source="UMLS:C0018196"}
xref: SCTID:72211003 {source="MONDO:equivalentTo", source="UMLS:C0018196"}
xref: UMLS:C0018196 {source="MEDGEN:6674", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004382 {source="MESH:D006102"} ! laryngeal disorder

[Term]
id: MONDO:0020977
name: granulomatous prostatitis
def: "An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue." [NCIT:C26789]
synonym: "Granulomatous Prostatitis" RELATED [NCIT:C26789]
synonym: "Granulomatous prostatitis" RELATED [UMLS:C0018204]
synonym: "granulomatous prostatitis" EXACT [NCIT:C26789]
xref: ICD9:601.8
xref: MEDGEN:42294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26789 {source="MONDO:equivalentTo", source="UMLS:C0018204"}
xref: SCTID:61500009 {source="MONDO:equivalentTo", source="UMLS:C0018204"}
xref: UMLS:C0018204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42294"}
is_a: MONDO:0005280 {source="NCIT:C26789", source="UMLS:C0018204"} ! prostatitis

[Term]
id: MONDO:0020979
name: pilosebaceous hamartoma
def: "A hamartoma characterized by localized pilosebaceous apparatus malformation." [NCIT:C5565]
synonym: "pilosebaceous hamartoma" EXACT [NCIT:C5565]
xref: MEDGEN:277515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5565 {source="MONDO:equivalentTo"}
xref: UMLS:C1335410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277515"}
is_a: MONDO:0021539 {source="NCIT:C5565"} ! hamartoma of skin appendage

[Term]
id: MONDO:0020980
name: hair nevus
def: "A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion." [NCIT:C3074]
synonym: "hair nevus" EXACT [NCIT:C3074, UMLS:C0018508]
synonym: "hairy nevus" EXACT [NCIT:C3074]
synonym: "nevoid hypertrichosis" EXACT [NCIT:C3074, UMLS:C0018508]
xref: MEDGEN:6707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3074 {source="MONDO:equivalentTo", source="UMLS:C0018508"}
xref: SCTID:201161009 {source="MONDO:equivalentTo", source="UMLS:C0018508"}
xref: SCTID:21119008 {source="UMLS:C0018508"}
xref: UMLS:C0018508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6707"}
is_a: MONDO:0020979 {source="NCIT:C3074"} ! pilosebaceous hamartoma

[Term]
id: MONDO:0020983
name: myocardial rupture
def: "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." [MESH:D006341]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cardiac Free Wall Rupture" RELATED [MESH:D006341]
synonym: "Cardiac Rupture" RELATED [MESH:D006341, NCIT:C34668]
synonym: "Cardiac Ruptures" RELATED [MESH:D006341]
synonym: "Free Wall Rupture, Heart" RELATED [MESH:D006341]
synonym: "Heart Rupture" RELATED [MESH:D006341]
synonym: "Heart Ruptures" RELATED [MESH:D006341]
synonym: "Myocardial Rupture" RELATED [NCIT:C34668]
synonym: "Rupture of heart" RELATED [UMLS:C0018813]
synonym: "Ventricular Free Wall Rupture" RELATED [MESH:D006341]
xref: MEDGEN:6750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006341 {source="MONDO:equivalentTo", source="UMLS:C0018813"}
xref: NCIT:C34668 {source="UMLS:C0018813"}
xref: SCTID:29889000 {source="UMLS:C0018813"}
xref: UMLS:C0018813 {source="MEDGEN:6750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MESH:D006341"} ! heart disorder
relationship: has_characteristic MONDO:0021136 {source="GARD:0010468"} ! rare

[Term]
id: MONDO:0020989
name: hereditary persistence of fetal hemoglobin
def: "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." [NCIT:C129072]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Disease, Haemoglobin F" RELATED OMO:0003005 []
synonym: "Disease, Hemoglobin F" RELATED [MESH:D017086]
synonym: "Haemoglobin F Disease" RELATED OMO:0003005 []
synonym: "Hb F disease" RELATED [UMLS:C0019025]
synonym: "HEMOGLOBIN F DIS" RELATED [MESH:D017086]
synonym: "Hemoglobin F Disease" RELATED [MESH:D017086]
synonym: "HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN" RELATED [OMIM:141900, OMIM:142200, OMIM:142250]
synonym: "Hereditary Persistence of Fetal Hemoglobin" RELATED [NCIT:C129072]
synonym: "Hereditary persistence of fetal hemoglobin" RELATED [UMLS:C0019025]
synonym: "hereditary persistence of fetal hemoglobin" EXACT [NCIT:C129072]
synonym: "Hereditary Persistence of Foetal Haemoglobin" RELATED OMO:0003005 []
synonym: "Hereditary persistence of foetal haemoglobin" RELATED OMO:0003005 []
synonym: "HPFH - Hereditary persistence of fetal hemoglobin" RELATED [UMLS:C0019025]
synonym: "HPFH - Hereditary persistence of foetal haemoglobin" RELATED OMO:0003005 []
xref: ICD9:282.7
xref: MEDGEN:5495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017086 {source="UMLS:C0019025"}
xref: NCIT:C129072 {source="UMLS:C0019025", source="MONDO:equivalentTo"}
xref: OMIM:141900 {source="MONDO:relatedTo", source="UMLS:C0019025"}
xref: OMIM:142200 {source="MONDO:relatedTo", source="UMLS:C0019025"}
xref: OMIM:142250 {source="MONDO:relatedTo", source="UMLS:C0019025"}
xref: SCTID:191201002 {source="UMLS:C0019025", source="MONDO:equivalentTo"}
xref: UMLS:C0019025 {source="MEDGEN:5495", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019050 ! inherited hemoglobinopathy

[Term]
id: MONDO:0020999
name: obsolete genetic chronic primary adrenal insufficiency
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:101960"}
xref: GARD:19804 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:101960 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0021001
name: hemochromatosis type 1
def: "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" [EFO:0006513, https://github.com/EBISPOT/efo/issues/58]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C282Y/C282Y hemochromatosis" EXACT [EFO:0006513, Orphanet:139498]
synonym: "classic hemochromatosis" EXACT [EFO:0006513, Orphanet:139498]
synonym: "hemochromatosis" EXACT [OMIM:235200, OMIM:genemap2]
synonym: "hemochromatosis type 1" EXACT CLINGEN_LABEL []
synonym: "hemochromatosis, type 1" EXACT [OMIM:235200]
synonym: "hfe hemochromatosis, modifier of" EXACT [OMIM:235200, OMIM:genemap2]
synonym: "HFE-associated hereditary hemochromatosis" EXACT [EFO:0006513]
synonym: "HFE-related hemochromatosis" EXACT [EFO:0006513, Orphanet:139498]
synonym: "HFE1" EXACT ABBREVIATION [DOID:0111029, MONDO:Lexical, OMIM:235200]
synonym: "symptomatic form of classic hemochromatosis" NARROW [DOID:0111029, Orphanet:465508]
synonym: "symptomatic form of hemochromatosis type 1" EXACT [DOID:0111029]
synonym: "symptomatic form of HFE-related hereditary hemochromatosis" NARROW [DOID:0111029, Orphanet:465508]
xref: DOID:0111029 {source="MONDO:equivalentTo"}
xref: EFO:0006513 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:E83.1 {source="DOID:0111029", source="Orphanet:220489", source="Orphanet:465508"}
xref: ICD9:275.01 {source="EFO:0006513"}
xref: MEDGEN:854011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84764 {source="EFO:0006513", source="MONDO:equivalentTo"}
xref: OMIM:235200 {source="DOID:0111029", source="EFO:0006513", source="MONDO:equivalentTo", source="Orphanet:465508"}
xref: Orphanet:139498 {source="MONDO:equivalentObsolete"}
xref: Orphanet:465508 {source="DOID:0111029", source="MONDO:mondoIsBroaderThanSource"}
xref: SCTID:35400008 {source="EFO:0006513", source="MONDO:directSiblingOf"}
xref: UMLS:C3469186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854011"}
is_a: MONDO:0006507 {source="DOID:0111029", source="NCIT:C84764", source="OMIM:235200"} ! hereditary hemochromatosis
relationship: excluded_subClassOf MONDO:0016363 {source="Orphanet:465508", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare hereditary hemochromatosis
relationship: has_characteristic MONDO:0021137 ! not rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0021002
name: syndactyly
def: "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "syndactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:11193 {source="MONDO:equivalentTo"}
xref: HP:0001159 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q70 {source="DOID:11193"}
xref: ICD10CM:Q70.0 {source="Orphanet:90025"}
xref: ICD10CM:Q70.1 {source="Orphanet:90025"}
xref: ICD10CM:Q70.2 {source="Orphanet:90025"}
xref: ICD10CM:Q70.3 {source="Orphanet:90025"}
xref: ICD10CM:Q70.4 {source="Orphanet:90025"}
xref: ICD10CM:Q70.9 {source="DOID:11193", source="Orphanet:90025"}
xref: ICD9:755.1 {source="DOID:11193"}
xref: MedDRA:10042778 {source="Orphanet:90025"}
xref: MEDGEN:52619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013576 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:11193", source="Orphanet:90025"}
xref: NCIT:C87125 {source="DOID:11193"}
xref: SCTID:111313001 {source="DOID:11193"}
xref: SCTID:156989004 {source="DOID:11193"}
xref: SCTID:205151006 {source="DOID:11193"}
xref: SCTID:253975004 {source="DOID:11193"}
xref: SCTID:268252004 {source="DOID:11193"}
xref: SCTID:373413006 {source="DOID:11193"}
xref: SCTID:75352001 {source="DOID:11193"}
xref: UMLS:C0039075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52619"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005172 {source="MONDO:indirect"} ! skeletal system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0001159 ! Syndactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4051" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4285" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000589 "syndactyly (disease)" xsd:string

[Term]
id: MONDO:0021003
name: polydactyly
def: "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperdactyly" EXACT [NCIT:C87110]
synonym: "polydactylism" EXACT [NCIT:C87110]
synonym: "polydactyly" EXACT [MONDO:ambiguous, OMIM:603596]
synonym: "polydactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "postaxial polydactyly" RELATED [DOID:1148]
synonym: "supernumerary digit" RELATED [DOID:1148]
xref: DOID:1148 {source="MONDO:equivalentTo"}
xref: HP:0010442 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q69 {source="DOID:1148"}
xref: ICD10CM:Q69.0 {source="Orphanet:2913"}
xref: ICD10CM:Q69.1 {source="Orphanet:2913"}
xref: ICD10CM:Q69.2 {source="Orphanet:2913"}
xref: ICD10CM:Q69.9 {source="DOID:1148", source="Orphanet:2913"}
xref: ICD9:755.0 {source="DOID:1148"}
xref: ICD9:755.00 {source="DOID:1148", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MedDRA:10036063 {source="Orphanet:2913"}
xref: MEDGEN:57774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562429 {source="DOID:1148"}
xref: MESH:D017689 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:1148", source="MONDO:equivalentTo", source="Orphanet:2913"}
xref: NCIT:C87110 {source="DOID:1148", source="MONDO:equivalentTo"}
xref: OMIM:603596 {source="DOID:1148", source="MONDO:equivalentTo", source="Orphanet:2913"}
xref: SCTID:156988007 {source="DOID:1148"}
xref: SCTID:205119005 {source="DOID:1148"}
xref: SCTID:205120004 {source="DOID:1148"}
xref: SCTID:205136002 {source="DOID:1148"}
xref: SCTID:367506006 {source="DOID:1148", source="MONDO:equivalentTo"}
xref: SCTID:403562000 {source="DOID:1148"}
xref: SCTID:74537000 {source="DOID:1148"}
xref: UMLS:C0152427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57774"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005172 {source="MONDO:indirect"} ! skeletal system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0010442 ! Polydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000589 "polydactyly (disease)" xsd:string

[Term]
id: MONDO:0021004
name: brachydactyly
def: "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "brachydactyly" EXACT [DOID:0050581]
synonym: "brachydactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0050581 {source="MONDO:equivalentTo"}
xref: HP:0001156 {source="MONDO:otherHierarchy"}
xref: MEDGEN:67454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059327 {source="MONDO:equivalentTo"}
xref: UMLS:C0221357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67454"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005172 {source="MONDO:indirect"} ! skeletal system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0001156 ! Brachydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000589 "brachydactyly (disease)" xsd:string

[Term]
id: MONDO:0021005
name: faciodigitogenital syndrome
def: "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:4775", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:915"}
subset: orphanet_rare {source="Orphanet:915"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Aarskog syndrome" NARROW []
synonym: "Aarskog-Scott syndrome" NARROW []
synonym: "faciogenital dysplasia" RELATED []
xref: DOID:0111824 {source="MONDO:equivalentTo"}
xref: GARD:4775 {source="MONDO:GARD"}
xref: ICD10CM:Q87.1 {source="Orphanet:915/inclusion", source="Orphanet:915/ntbt"}
xref: MedDRA:10067148 {source="Orphanet:915/e"}
xref: Orphanet:915 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0021007
name: obsolete stage of disease
is_obsolete: true

[Term]
id: MONDO:0021008
name: secondary antiphospholipid syndrome
def: "An antiphospholipid syndrome that occurs alongside another autoimmune disorder." [https://rarediseases.org/rare-diseases/antiphospholipid-syndrome/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD9:795.79 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:592743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:239895006 {source="MONDO:equivalentTo"}
xref: UMLS:C0409983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:592743"}
is_a: MONDO:8000010 {source="https://orcid.org/0000-0002-6601-2165"} ! antiphospholipid syndrome

[Term]
id: MONDO:0021009
name: salivary gland mucoepidermoid carcinoma
def: "A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." [NCIT:C5908]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mucoepidermoid carcinoma of salivary gland" EXACT [NCIT:C5908]
synonym: "mucoepidermoid carcinoma of the salivary gland" EXACT [NCIT:C5908]
synonym: "saliva-secreting gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location]
synonym: "salivary gland mucoepidermoid carcinoma" EXACT [NCIT:C5908]
xref: DOID:0081293 {source="MONDO:equivalentTo"}
xref: MEDGEN:277630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5908 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: SCTID:423708008 {source="MONDO:equivalentTo"}
xref: UMLS:C1335903 {source="MONDO:equivalentTo", source="MEDGEN:277630", source="MONDO:MEDGEN"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5908"} ! salivary gland carcinoma
is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C5908"} ! mucoepidermoid carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0021010
name: skin lymphangiosarcoma
def: "A malignant vascular neoplasm of the skin arising from the lymphatic vessels." [NCIT:C4490]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lymphangiosarcoma of skin" EXACT [NCIT:C4490]
synonym: "lymphangiosarcoma of Stewart and Treves" EXACT [NCIT:C4490]
synonym: "lymphangiosarcoma of the skin" EXACT [NCIT:C4490]
synonym: "skin lymphangiosarcoma" EXACT [NCIT:C4490]
xref: ICD9:171.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4490 {source="MONDO:equivalentTo"}
xref: SCTID:62497000 {source="MONDO:equivalentTo"}
xref: UMLS:C0346082 {source="MEDGEN:87536", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006282 {source="NCIT:C4490"} ! lymphangiosarcoma
is_a: MONDO:0006414 {source="MONDO:Redundant", source="NCIT:C4490"} ! skin sarcoma
relationship: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0021011
name: hereditary progressive chorea without dementia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BCH" RELATED ABBREVIATION [OMIM:118700]
synonym: "BHC" EXACT ABBREVIATION [OMIM:118700]
synonym: "chorea, benign hereditary" EXACT [OMIM:118700]
synonym: "chorea, hereditary benign" EXACT [OMIM:118700, OMIM:genemap2]
synonym: "hereditary progressive chorea without dementia" EXACT [OMIM:118700]
xref: MEDGEN:98278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:118700 {source="MONDO:equivalentTo", source="EFO:0004152", source="Orphanet:1429"}
xref: Orphanet:1429 {source="OMIM:118700"}
xref: UMLS:C0393584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98278"}
is_a: MONDO:0001595 ! choreatic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11825 {source="MONDO:mim2gene_medgen"} ! NKX2-1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0021012
name: susceptibility to visceral leishmaniasis, 1
subset: predisposition
synonym: "kala-Azar, susceptibility to, 1" EXACT [OMIM:608207]
synonym: "KAZA1" EXACT ABBREVIATION [OMIM:608207]
synonym: "leishmaniasis, visceral, susceptibility to, 1" EXACT [OMIM:608207]
xref: MEDGEN:370034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608207 {source="MONDO:equivalentTo"}
xref: UMLS:C1969520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370034"}
is_a: MONDO:0020573 {source="OMIM:608207", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005445 {source="OMIM:608207", source="https://orcid.org/0000-0001-5208-3432"} ! visceral leishmaniasis
relationship: predisposes_towards MONDO:0005445 {source="OMIM:608207"} ! visceral leishmaniasis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0021013
name: trichothiodystrophy 4, nonphotosensitive
def: "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein." [NCIT:C146899]
subset: gard_rare {source="GARD:5271", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Amish brittle hair brain syndrome" RELATED [OMIM:234050]
synonym: "BIDS syndrome" RELATED [OMIM:234050]
synonym: "hair-brain syndrome" RELATED [OMIM:234050]
synonym: "MPLKIP nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "nonphotosensitive trichothiodystrophy" RELATED [DOID:0050528]
synonym: "nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP" EXACT [MONDO:design_pattern]
synonym: "Pollitt syndrome" EXACT [OMIM:234050]
synonym: "trichothiodystrophy 4, nonphotosensitive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:234050]
synonym: "trichothiodystrophy, nonphotosensitive 1" RELATED [OMIM:234050]
synonym: "trichothiodystrophy-neurocutaneous syndrome" RELATED [OMIM:234050]
synonym: "TTD4" EXACT ABBREVIATION [OMIM:234050]
xref: DOID:0050528 {source="MONDO:equivalentTo"}
xref: GARD:5271 {source="MONDO:GARD"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:783.43 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:272036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C146899 {source="MONDO:equivalentTo"}
xref: OMIM:234050 {source="MONDO:equivalentTo", source="DOID:0050528"}
xref: Orphanet:75790 {source="MONDO:equivalentObsolete"}
xref: SCTID:403796005 {source="MONDO:equivalentTo"}
xref: UMLS:C1313961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272036"}
is_a: MONDO:0018053 {source="MONDO:Redundant", source="NCIT:C146899", source="OMIM:234050"} ! trichothiodystrophy
intersection_of: MONDO:0018053 ! trichothiodystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16002 ! MPLKIP
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16002 {source="MONDO:mim2gene_medgen"} ! MPLKIP

[Term]
id: MONDO:0021016
name: obsolete channelopathy
def: "OBSOLETE. A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." [Wikipedia:Channelopathy]
comment: Reason: out of scope specific to autosomal disorder. Term to consider: none.
synonym: "disorder of ion channel activity" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "ion channel activity disease" EXACT [MONDO:design_pattern]
xref: MESH:D053447 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginProcess"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4116" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021017
name: synaptopathy
def: "A disease caused by dysfunction of synapses." [Wikipedia:Synaptopathy]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0045202 ! synapse
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0021018
name: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
def: "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, Orphanet:34516]
comment: Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 {source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/"}
subset: gard_rare {source="GARD:12528", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:34516"}
subset: orphanet_rare {source="Orphanet:34516"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1D" RELATED [Orphanet:34516]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" RELATED DEPRECATED [DOID:0110305]
synonym: "DNAJB6 autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LGMD1D" EXACT ABBREVIATION [Orphanet:34516]
synonym: "LGMD1D (DNAJB6)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "LGMD1E" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, MONDO:Lexical, OMIM:603511]
synonym: "LGMD1E (Bushby and Beckmann, 2003)" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, OMIM:603511]
synonym: "limb-girdle muscular dystrophy type 1D" RELATED [GARD:0012528]
synonym: "muscular dystrophy limb-girdle type 1D" RELATED [DOID:0110305]
synonym: "muscular dystrophy limb-girdle type 1E" RELATED DEPRECATED [DOID:0110305]
synonym: "muscular dystrophy, limb-girdle, autosomal dominant 1" EXACT [OMIM:603511, OMIM:genemap2]
synonym: "muscular dystrophy, limb-girdle, type 1D" RELATED [OMIM:603511]
synonym: "muscular dystrophy, limb-girdle, type 1D, formerly" RELATED [OMIM:603511]
synonym: "muscular dystrophy, limb-girdle, type 1E" RELATED DEPRECATED [MONDO:Lexical, OMIM:603511]
xref: DOID:0110305 {source="MONDO:equivalentTo"}
xref: GARD:12528 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:34516/attributed", source="Orphanet:34516/ntbt", source="DOID:0110305", source="Orphanet:34516", source="Orphanet:34517"}
xref: MEDGEN:1648441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566370 {source="MONDO:equivalentTo"}
xref: OMIM:603511 {source="Orphanet:34516", source="MONDO:equivalentTo", source="Orphanet:34516/e", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:34516 {source="DOID:0110305", source="MONDO:equivalentTo"}
xref: UMLS:C4721885 {source="MEDGEN:1648441", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015151 {source="DOID:0110305", source="MONDO:Redundant", source="OMIM:603511", source="Orphanet:34516"} ! muscular dystrophy, limb-girdle, autosomal dominant
intersection_of: MONDO:0015151 ! muscular dystrophy, limb-girdle, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14888 ! DNAJB6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14888 {source="MONDO:mim2gene_medgen"} ! DNAJB6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0021019
name: X-linked recessive ocular albinism
def: "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." [Orphanet:54]
subset: gard_rare {source="GARD:8471", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:54"}
subset: orphanet_rare {source="Orphanet:54"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism, ocular, type 1" RELATED [OMIM:300500]
synonym: "albinism, ocular, type I" RELATED [MONDO:Lexical, OMIM:300500]
synonym: "Nettleship-Falls syndrome" EXACT [NCIT:C118785]
synonym: "Nettleship-Falls type ocular albinism" RELATED [OMIM:300500]
synonym: "OA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300500, Orphanet:54]
synonym: "ocular albinism type 1" EXACT [Orphanet:54]
synonym: "ocular albinism, Nettleship-Falls type" EXACT [Orphanet:54]
synonym: "ocular albinism, type I, Nettleship-Falls type" EXACT [OMIM:300500, OMIM:genemap2]
synonym: "X-linked ocular albinism" RELATED [GARD:0008471]
synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54]
xref: GARD:8471 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="Orphanet:54/attributed", source="Orphanet:54/ntbt"}
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:90991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537863 {source="Orphanet:54", source="MONDO:equivalentTo", source="Orphanet:54/e"}
xref: NCIT:C118785 {source="MONDO:equivalentTo"}
xref: OMIM:300500 {source="Orphanet:54", source="MONDO:equivalentTo", source="Orphanet:54/e"}
xref: Orphanet:54 {source="MONDO:equivalentTo", source="OMIM:300500"}
xref: SCTID:78642008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342684 {source="MEDGEN:90991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017304 {source="MESH:C537863", source="MONDO:Redundant", source="Orphanet:54"} ! ocular albinism
is_a: MONDO:0043209 {source="MESH:C537863/inferred", source="NCIT:C118785"} ! albinism
is_a: MONDO:0700230 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! GPR143-related foveal hypoplasia
intersection_of: MONDO:0017304 ! ocular albinism
intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 {source="MONDO:mim2gene_medgen"} ! GPR143
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0021020
name: Crigler-Najjar syndrome type 1
def: "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." [Orphanet:79234]
subset: gard_rare {source="GARD:47", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:79234"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1" EXACT [Orphanet:79234]
synonym: "bilirubin-UGT deficiency type 1" EXACT [Orphanet:79234]
synonym: "Crigler Najjar syndrome, type 1" RELATED [GARD:0000047]
synonym: "Crigler-Najjar syndrome, type 1" EXACT [OMIM:218800]
synonym: "Crigler-Najjar syndrome, type I" EXACT [OMIM:218800]
synonym: "hereditary unconjugated hyperbilirubinemia type 1" EXACT [Orphanet:79234]
synonym: "hyperbilirubinemia, Crigler-Najjar type 1" EXACT [OMIM:218800]
synonym: "UGT deficiency type 1" EXACT [Orphanet:79234]
xref: GARD:47 {source="MONDO:GARD"}
xref: ICD10CM:E80.5 {source="Orphanet:205", source="Orphanet:79234/attributed", source="Orphanet:79234/ntbt", source="DOID:3803", source="Orphanet:79234"}
xref: MedDRA:10057034 {source="Orphanet:79234/e", source="Orphanet:79234"}
xref: MEDGEN:41346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536212 {source="Orphanet:79234/e", source="Orphanet:79234"}
xref: OMIM:218800 {source="Orphanet:205", source="Orphanet:79234/e", source="MONDO:equivalentTo", source="DOID:3803", source="Orphanet:79234"}
xref: Orphanet:79234 {source="MONDO:equivalentTo", source="OMIM:218800"}
xref: SCTID:8933000 {source="MONDO:equivalentTo"}
xref: UMLS:C0010324 {source="MEDGEN:41346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002408 {source="MONDO:0021020/inferred", source="MONDO:Redundant", source="OMIM:218800"} ! hereditary hyperbilirubinemia
is_a: MONDO:0009044 {source="Orphanet:79234"} ! Crigler-Najjar syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12530 {source="MONDO:mim2gene_medgen"} ! UGT1A1
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1" xsd:anyURI {source="GARD:0000047"}

[Term]
id: MONDO:0021021
name: craniodiaphyseal dysplasia, autosomal dominant
subset: gard_rare {source="GARD:249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDD" EXACT ABBREVIATION [OMIM:122860]
synonym: "craniodiaphyseal dysplasia, autosomal dominant" EXACT [MONDO:Lexical, OMIM:122860]
synonym: "craniodiaphyseal dysplasia, dominant" RELATED [GARD:0000249]
synonym: "dominantly inherited craniodiaphyseal dysplasia" RELATED [GARD:0000249]
synonym: "Schaefer Stein Oshman syndrome" RELATED [GARD:0000249]
xref: DOID:0080807 {source="MONDO:equivalentTo"}
xref: GARD:249 {source="MONDO:GARD"}
xref: MEDGEN:382678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567275 {source="MONDO:equivalentTo"}
xref: OMIM:122860 {source="MONDO:equivalentTo", source="Orphanet:1513"}
xref: UMLS:C2675746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382678"}
is_a: MONDO:0015465 ! craniometaphyseal dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13771 {source="MONDO:mim2gene_medgen"} ! SOST
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0021022
name: hereditary hyperekplexia
def: "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." [Orphanet:3197]
subset: gard_rare {source="GARD:3129", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3197"}
subset: orphanet_rare {source="Orphanet:3197"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital stiff man syndrome" EXACT [DOID:0060695, Orphanet:3197]
synonym: "familial startle disease" EXACT [DOID:0060695, Orphanet:3197]
synonym: "hereditary hyperekplexia" EXACT [DOID:0060695, MONDO:patterns/hereditary]
synonym: "hereditary hyperexplexia" EXACT [Orphanet:3197]
synonym: "hyperekplexia" BROAD [Orphanet:3197]
synonym: "hyperexplexia hereditary" RELATED [GARD:0003129]
synonym: "Kok disease" EXACT [DOID:0060695, Orphanet:3197]
synonym: "startle disease" EXACT [DOID:0060695]
synonym: "Stiff baby syndrome" EXACT [Orphanet:3197]
xref: DOID:0060695 {source="MONDO:equivalentTo"}
xref: GARD:3129 {source="MONDO:GARD"}
xref: ICD10CM:G25.8 {source="DOID:0060695", source="Orphanet:3197/attributed", source="Orphanet:3197/ntbt", source="Orphanet:306773", source="Orphanet:3197"}
xref: MEDGEN:332019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:149400 {source="MONDO:equivalentTo"}
xref: Orphanet:3197 {source="DOID:0060695", source="MONDO:equivalentTo"}
xref: SCTID:724351008 {source="MONDO:equivalentTo"}
xref: UMLS:C1835614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332019"}
is_a: MONDO:0005395 {source="MONDO:Redundant", source="Orphanet:3197"} ! movement disorder
is_a: MONDO:0017658 {source="MONDO:Redundant", source="Orphanet:3197"} ! hyperekplexia
is_a: MONDO:0019253 {source="Orphanet:3197"} ! metabolic disease involving other neurotransmitter deficiency
intersection_of: MONDO:0017658 ! hyperekplexia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015957"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:149400"} ! inherited

[Term]
id: MONDO:0021023
name: complete androgen insensitivity syndrome
def: "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." [Orphanet:99429]
subset: gard_rare {source="GARD:10597", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99429"}
subset: orphanet_rare {source="Orphanet:99429"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "androgen insensitivity syndrome, complete" RELATED [GARD:0010597]
synonym: "CAIS" EXACT ABBREVIATION [Orphanet:99429]
synonym: "complete androgen resistance syndrome" EXACT [Orphanet:99429]
xref: DOID:0080775 {source="MONDO:equivalentTo"}
xref: GARD:10597 {source="MONDO:GARD"}
xref: ICD10CM:E34.5 {source="Orphanet:99429/attributed", source="Orphanet:99429/ntbt"}
xref: ICD10CM:E34.51 {source="MONDO:equivalentTo"}
xref: MEDGEN:183188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120191 {source="MONDO:equivalentTo"}
xref: Orphanet:99429 {source="MONDO:equivalentTo", source="OMIM:300068"}
xref: SCTID:368851000119102 {source="MONDO:equivalentTo"}
xref: UMLS:C0936016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:183188"}
is_a: MONDO:0019154 {source="NCIT:C120191", source="Orphanet:99429"} ! androgen insensitivity syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome" xsd:anyURI {source="GARD:0010597"}

[Term]
id: MONDO:0021024
name: malaria, susceptibility to
subset: predisposition
synonym: "malaria, cerebral, reduced risk of" EXACT [OMIM:611162, OMIM:genemap2]
synonym: "malaria, cerebral, resistance to" EXACT [OMIM:611162]
synonym: "malaria, cerebral, susceptibility to" EXACT [OMIM:611162]
synonym: "malaria, protection against" EXACT [OMIM:611162, OMIM:genemap2]
synonym: "malaria, resistance to" EXACT [OMIM:611162, OMIM:genemap2]
synonym: "malaria, Severe, resistance to" EXACT [OMIM:611162]
synonym: "malaria, Severe, susceptibility to" EXACT [OMIM:611162]
synonym: "malaria, susceptibility to" EXACT [OMIM:611162]
synonym: "malaria, vivax, protection against" EXACT [OMIM:611162, OMIM:genemap2]
synonym: "resistance to malaria due to G6PD deficiency" EXACT [OMIM:611162, OMIM:genemap2]
xref: MEDGEN:370149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611162 {source="MONDO:equivalentTo", source="Orphanet:673"}
xref: UMLS:C1970028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370149"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005136 ! malaria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0021025
name: cirrhosis, familial, with antigenemia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cirrhosis, familial" RELATED [OMIM:118900]
xref: OMIM:118900 {source="MONDO:equivalentTo"}
is_a: MONDO:0007329 {source="https://orcid.org/0000-0001-5208-3432"} ! cirrhosis, familial

[Term]
id: MONDO:0021026
name: hereditary epidermal appendage anomaly
def: "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: gard_rare {source="GARD:20265", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183447"}
subset: rare
synonym: "genetic epidermal appendage anomaly" EXACT [MONDO:patterns/genetic]
xref: GARD:20265 {source="MONDO:GARD"}
xref: MEDGEN:1843118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:183447 {source="MONDO:0021027", source="MONDO:equivalentTo"}
xref: UMLS:C5680583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843118"}
is_a: MONDO:0005093 {source="MONDO:Redundant", source="Orphanet:183447"} ! skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare

[Term]
id: MONDO:0021027
name: obsolete genetic hair anomaly
def: "OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:183450"}
synonym: "genetic hair anomaly" EXACT [MONDO:patterns/genetic]
xref: GARD:20266 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183450 {source="MONDO:0021027", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0019278

[Term]
id: MONDO:0021028
name: obsolete genetic nail anomaly
def: "OBSOLETE. An instance of nail anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:183454"}
synonym: "genetic nail anomaly" EXACT [MONDO:patterns/genetic]
xref: GARD:20267 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183454 {source="MONDO:0021028", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0019283

[Term]
id: MONDO:0021029
name: hereditary sebaceous gland anomaly
def: "An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: gard_rare {source="GARD:20268", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183460"}
subset: rare
synonym: "genetic sebaceous gland anomaly" EXACT [MONDO:patterns/genetic]
xref: GARD:20268 {source="MONDO:GARD"}
xref: MEDGEN:1843175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:183460 {source="MONDO:0021029", source="MONDO:equivalentTo"}
xref: UMLS:C5680577 {source="MEDGEN:1843175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021026 {source="MONDO:Redundant", source="Orphanet:183460"} ! hereditary epidermal appendage anomaly

[Term]
id: MONDO:0021032
name: herpes zoster with dermatitis of eyelid
def: "A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve." [NCIT:C34696]
synonym: "Herpes Zoster Dermatitis of Eyelid" RELATED [NCIT:C34696]
synonym: "herpes zoster dermatitis of eyelid" EXACT [NCIT:C34696]
synonym: "Herpes zoster dermatitis of eyelids" RELATED [UMLS:C0019362]
synonym: "herpes zoster dermatitis of eyelids" EXACT []
synonym: "Herpes zoster with dermatitis of eyelid" RELATED [UMLS:C0019362]
synonym: "herpes zoster with dermatitis of eyelid" EXACT []
xref: ICD9:053.20
xref: MEDGEN:42438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34696 {source="MONDO:equivalentTo", source="UMLS:C0019362"}
xref: SCTID:186525007 {source="MONDO:equivalentTo", source="UMLS:C0019362"}
xref: UMLS:C0019362 {source="MEDGEN:42438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021033 {source="NCIT:C34696"} ! herpes zoster dermatitis
intersection_of: MONDO:0021033 ! herpes zoster dermatitis
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0021033
name: herpes zoster dermatitis
def: "Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve." [NCIT:C35619]
synonym: "herpes zoster dermatitis" EXACT [NCIT:C35619]
xref: MEDGEN:208894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35619 {source="MONDO:equivalentTo"}
xref: UMLS:C0854330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208894"}
is_a: MONDO:0002406 {source="NCIT:C35619"} ! dermatitis
is_a: MONDO:0021201 {source="NCIT:C35619"} ! skin infection
intersection_of: MONDO:0002406 ! dermatitis
intersection_of: MONDO:0100332 NCBITaxon:10335 ! disease has primary infectious agent Human alphaherpesvirus 3

[Term]
id: MONDO:0021034
name: obsolete hereditary alopecia
def: "OBSOLETE. An instance of alopecia that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: ordo_group_of_disorders {source="Orphanet:481771"}
synonym: "genetic alopecia" EXACT [MONDO:patterns/genetic]
xref: GARD:21987 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:481771 {source="MONDO:obsoleteEquivalent", source="MONDO:0021034"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021035
name: alopecia-intellectual disability syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alopecia-intellectual disability syndrome 1" EXACT [MONDO:Lexical, OMIM:203650]
synonym: "alopecia-mental retardation syndrome 1" EXACT DEPRECATED [MONDO:Lexical, OMIM:203650]
synonym: "APMR" BROAD ABBREVIATION [OMIM:203650]
synonym: "APMR1" EXACT DEPRECATED [OMIM:203650]
xref: DOID:0080628 {source="MONDO:equivalentTo"}
xref: MEDGEN:349263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:203650 {source="MONDO:equivalentTo"}
xref: UMLS:C1859878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349263"}
is_a: MONDO:0008756 {source="OMIM:203650"} ! alopecia - intellectual disability syndrome

[Term]
id: MONDO:0021036
name: keratosis pilaris
def: "A form of dry skin characterized by hair follicles plugged by scale." [https://www.dermnetnz.org/topics/keratosis-pilaris/]
subset: otar {source="MONDO:OTAR"}
synonym: "KP" EXACT ABBREVIATION [NCIT:C124070]
xref: MEDGEN:82664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124070 {source="MONDO:equivalentTo"}
xref: SCTID:5132005 {source="MONDO:equivalentTo"}
xref: UMLS:C0263383 {source="MEDGEN:82664", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="NCIT:C124070/inferred"} ! skin disorder

[Term]
id: MONDO:0021037
name: obsolete genetic neurodegenerative disease with dementia
def: "OBSOLETE. An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
comment: Dementia should be a feature, not a superclass.
subset: ordo_group_of_disorders {source="Orphanet:276058"}
synonym: "genetic neurodegenerative disease with dementia" EXACT [MONDO:patterns/genetic]
xref: GARD:21039 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:276058 {source="MONDO:0021037", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1954" xsd:anyURI
is_obsolete: true
consider: MONDO:0024237

[Term]
id: MONDO:0021038
name: Ewing sarcoma/peripheral primitive neuroectodermal tumor
def: "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27291]
subset: otar {source="MONDO:OTAR"}
synonym: "EFTs" EXACT [NCIT:C27291]
synonym: "Ewing family of tumors" EXACT [NCIT:C27291, Wikipedia:Ewing_family_of_tumors]
synonym: "Ewing family of tumours" EXACT OMO:0003005 []
synonym: "Ewing sarcoma family of tumors" EXACT [NCIT:C27291]
synonym: "Ewing sarcoma family of tumours" EXACT OMO:0003005 []
synonym: "Ewing sarcoma/peripheral PNET" EXACT [NCIT:C27291]
synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291]
synonym: "Ewing's family of tumors" EXACT [NCIT:C27291]
synonym: "Ewing's family of tumours" EXACT OMO:0003005 []
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291]
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "tumors of Ewing's family" EXACT [NCIT:C27291]
synonym: "tumors of the Ewing's family" EXACT [NCIT:C27291]
synonym: "tumours of Ewing's family" EXACT OMO:0003005 []
synonym: "tumours of the Ewing's family" EXACT OMO:0003005 []
xref: MEDGEN:760735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27291 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C3536893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760735"}
is_a: MONDO:0005564 {source="NCIT:C27291"} ! embryonal neoplasm

[Term]
id: MONDO:0021039
name: extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor
def: "A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27293]
subset: otar {source="MONDO:OTAR"}
synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293]
synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293]
synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "extraosseous Ewing's tumor" RELATED [DOID:4985, NCIT:C7135]
synonym: "extraosseous Ewing's tumour" RELATED OMO:0003005 []
synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumor" EXACT [MONDO:0003230]
synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumour" EXACT OMO:0003005 []
synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293]
xref: DOID:4985 {source="MONDO:equivalentTo"}
xref: EFO:1000250 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:232170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27293 {source="EFO:1000250", source="MONDO:equivalentTo"}
xref: NCIT:C7135 {source="DOID:4985"}
xref: UMLS:C1333514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232170"}
is_a: MONDO:0021038 {source="NCIT:C27293"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor

[Term]
id: MONDO:0021040
name: pancreatic neoplasm
def: "A benign or malignant neoplasm involving the pancreas." [NCIT:C3305]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C3305]
synonym: "neoplasm of the pancreas" EXACT [NCIT:C3305]
synonym: "pancreas" RELATED [ONCOTREE:PANCREAS]
synonym: "pancreas neoplasm" EXACT [NCIT:C3305]
synonym: "pancreas neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pancreas tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3305]
synonym: "pancreas tumour" EXACT OMO:0003005 []
synonym: "pancreatic neoplasm" EXACT [NCIT:C3305]
synonym: "pancreatic tumor" EXACT [NCIT:C3305]
synonym: "pancreatic tumour" EXACT OMO:0003005 []
synonym: "tumor of pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C3305]
synonym: "tumor of the pancreas" EXACT [NCIT:C3305]
synonym: "tumour of pancreas" EXACT OMO:0003005 []
synonym: "tumour of the pancreas" EXACT OMO:0003005 []
xref: EFO:0003860 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:18279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010190 {source="MONDO:equivalentTo"}
xref: NCIT:C12393 {source="ONCOTREE:PANCREAS"}
xref: NCIT:C3305 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PANCREAS {source="MONDO:equivalentTo"}
xref: SCTID:126859007 {source="MONDO:equivalentTo"}
xref: UMLS:C0030297 {source="MONDO:equivalentTo", source="MEDGEN:18279", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MESH:D010190/inferred", source="MONDO:Redundant", source="NCIT:C3305/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0021041
name: pleural solitary fibrous tumor
def: "A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen." [NCIT:C4457]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fibroma of pleura" EXACT [NCIT:C4457]
synonym: "fibroma of the pleura" EXACT [NCIT:C4457]
synonym: "localised fibrous mesothelioma of pleura" EXACT OMO:0003005 []
synonym: "localised fibrous mesothelioma of the pleura" EXACT OMO:0003005 []
synonym: "localized fibrous mesothelioma of pleura" EXACT [NCIT:C4457]
synonym: "localized fibrous mesothelioma of the pleura" EXACT [NCIT:C4457]
synonym: "pleura solitary fibrous tumor" EXACT [MONDO:patterns/location]
synonym: "pleura solitary fibrous tumour" EXACT OMO:0003005 []
synonym: "pleural cavity solitary fibrous tumor" EXACT [MONDO:patterns/location]
synonym: "pleural cavity solitary fibrous tumour" EXACT OMO:0003005 []
synonym: "pleural fibroma" EXACT [NCIT:C4457]
synonym: "pleural solitary fibrous tumor" EXACT [NCIT:C4457]
synonym: "pleural Submesothelial fibroma" EXACT [NCIT:C4457]
synonym: "solitary fibrous tumor of pleura" EXACT [NCIT:C4457]
synonym: "solitary fibrous tumor of the pleura" EXACT [NCIT:C4457]
synonym: "solitary fibrous tumour of pleura" EXACT OMO:0003005 []
synonym: "solitary fibrous tumour of the pleura" EXACT OMO:0003005 []
xref: NCIT:C4457 {source="MONDO:equivalentTo"}
xref: SCTID:254646001 {source="MONDO:equivalentTo"}
is_a: MONDO:0016238 {source="MONDO:Redundant", source="NCIT:C4457"} ! solitary fibrous tumor
is_a: MONDO:0021065 {source="MONDO:Redundant", source="NCIT:C4457"} ! pleural neoplasm
intersection_of: MONDO:0016238 ! solitary fibrous tumor
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0021042
name: glioma
def: "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." [NCIT:C3059]
subset: gard_rare {source="GARD:6513", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:182067"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glial neoplasm" EXACT [NCIT:C3059]
synonym: "glial tumor" EXACT [NCIT:C3059]
synonym: "glial tumour" EXACT OMO:0003005 []
synonym: "glioma" EXACT [NCIT:C3059]
synonym: "neoplasm of neuroglia" EXACT [NCIT:C3059]
synonym: "neoplasm of the neuroglia" EXACT [NCIT:C3059]
synonym: "neuroglial neoplasm" EXACT [NCIT:C3059]
synonym: "neuroglial tumor" EXACT [NCIT:C3059]
synonym: "neuroglial tumour" EXACT OMO:0003005 []
synonym: "tumor of neuroglia" EXACT [NCIT:C3059]
synonym: "tumor of the neuroglia" EXACT [NCIT:C3059]
synonym: "tumour of neuroglia" EXACT OMO:0003005 []
synonym: "tumour of the neuroglia" EXACT OMO:0003005 []
xref: EFO:0005543 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6513 {source="MONDO:GARD"}
xref: MEDGEN:9030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005910 {source="MONDO:equivalentTo"}
xref: NCIT:C3059 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="https://github.com/monarch-initiative/mondo/issues/2932", source="MONDO:equivalentTo"}
xref: SCTID:393564001 {source="MONDO:equivalentTo"}
xref: UMLS:C0017638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9030"}
is_a: MONDO:0021193 {source="MESH:D005910", source="NCIT:C3059"} ! neuroepithelial neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000125 ! glial cell

[Term]
id: MONDO:0021043
name: mixed neoplasm
def: "A neoplasm composed of at least two distinct cellular populations." [NCIT:C6930]
subset: otar {source="MONDO:OTAR"}
synonym: "mixed neoplasm" EXACT [NCIT:C6930]
synonym: "mixed tumor" EXACT [NCIT:C6930]
synonym: "mixed tumour" EXACT OMO:0003005 []
xref: ICDO:8940/1 {source="NCIT:C6930"}
xref: MEDGEN:234575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018193 {source="MONDO:equivalentTo"}
xref: NCIT:C6930 {source="MONDO:equivalentTo"}
xref: UMLS:C1368354 {source="MEDGEN:234575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MESH:D018193/inferred", source="NCIT:C6930/inferred"} ! neoplasm

[Term]
id: MONDO:0021044
name: obsolete Wilms tumor
def: "OBSOLETE. An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." [NCIT:C3267]
is_obsolete: true
replaced_by: MONDO:0006058

[Term]
id: MONDO:0021045
name: fibroepithelial neoplasm
def: "A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor." [NCIT:C3743]
subset: otar {source="MONDO:OTAR"}
synonym: "fibroepithelial neoplasm" EXACT [MONDO:0005760, NCIT:C3743]
synonym: "fibroepithelial tumor" EXACT [NCIT:C3743]
synonym: "fibroepithelial tumour" EXACT OMO:0003005 []
xref: DOID:153 {source="EFO:0007271", source="MONDO:obsolete"}
xref: EFO:0007271 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:104908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018225 {source="MONDO:equivalentTo", source="EFO:0007271"}
xref: NCIT:C3743 {source="MONDO:equivalentTo"}
xref: UMLS:C0206649 {source="MEDGEN:104908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:0007271", source="MESH:D018225/inferred", source="MONDO:Redundant", source="NCIT:C3743/inferred"} ! neoplasm
is_a: MONDO:0021043 {source="NCIT:C3743"} ! mixed neoplasm

[Term]
id: MONDO:0021046
name: breast fibroepithelial neoplasm
def: "A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor." [NCIT:C40405]
subset: otar {source="MONDO:OTAR"}
synonym: "BFN" RELATED ABBREVIATION [ONCOTREE:BFN]
synonym: "breast fibroepithelial neoplasm" EXACT [MONDO:patterns/location, NCIT:C40405]
synonym: "breast fibroepithelial neoplasms" RELATED [ONCOTREE:BFN]
synonym: "breast fibroepithelial tumor" EXACT [NCIT:C40405]
synonym: "breast fibroepithelial tumour" EXACT OMO:0003005 []
xref: MEDGEN:267408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40405 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:BFN {source="MONDO:equivalentTo"}
xref: UMLS:C1511309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267408"}
is_a: MONDO:0021045 {source="MONDO:Redundant", source="NCIT:C40405"} ! fibroepithelial neoplasm
is_a: MONDO:0021100 {source="MONDO:Redundant", source="NCIT:C40405", source="ONCOTREE:BFN"} ! breast neoplasm
intersection_of: MONDO:0021045 ! fibroepithelial neoplasm
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0021047
name: breast phyllodes tumor
def: "A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component." [NCIT:C7575]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "breast cystosarcoma phyllodes" EXACT [NCIT:C7575]
synonym: "breast phyllodes neoplasm" EXACT [NCIT:C7575]
synonym: "breast phyllodes tumor" EXACT [MONDO:patterns/location, NCIT:C7575]
synonym: "cystosarcoma phyllodes of breast" EXACT [NCIT:C7575]
synonym: "cystosarcoma phyllodes of the breast" EXACT [NCIT:C7575]
synonym: "cystosarcoma phylloides - breast" EXACT [NCIT:C7575]
synonym: "cystosarcoma phylloides of the breast" EXACT [NCIT:C7575]
synonym: "phyllodes breast neoplasm" EXACT [NCIT:C7575]
synonym: "phyllodes breast tumor" EXACT [NCIT:C7575]
synonym: "phyllodes breast tumour" EXACT OMO:0003005 []
synonym: "phyllodes neoplasm of breast" EXACT [NCIT:C7575]
synonym: "phyllodes neoplasm of the breast" EXACT [NCIT:C7575]
synonym: "phyllodes tumor of breast" EXACT [NCIT:C7575]
synonym: "phyllodes tumor of the breast" EXACT [NCIT:C7575]
synonym: "phyllodes tumour of breast" EXACT OMO:0003005 []
synonym: "phyllodes tumour of the breast" EXACT OMO:0003005 []
xref: MEDGEN:65943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7575 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: ONCOTREE:PT {source="MONDO:equivalentTo"}
xref: SCTID:712989008 {source="MONDO:equivalentTo"}
xref: UMLS:C0238031 {source="MEDGEN:65943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C7575"} ! phyllodes tumor
is_a: MONDO:0021046 {source="MONDO:Redundant", source="NCIT:C7575", source="ONCOTREE:PT"} ! breast fibroepithelial neoplasm
intersection_of: MONDO:0005078 ! phyllodes tumor
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0021048
name: benign mastocytoma
def: "A localized mast cell neoplasm without metastatic potential." [NCIT:C3217]
subset: inferred_rare
subset: rare
synonym: "benign mastocytoma" EXACT [NCIT:C3217]
synonym: "MAST cell tumor, benign" EXACT [NCIT:C3217]
synonym: "mastocytoma, benign" EXACT [MONDO:patterns/benign]
xref: DOID:4658 {source="MONDO:equivalentTo"}
xref: ICD10CM:D47.0 {source="DOID:4658"}
xref: MEDGEN:384518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3217 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NCIT:C9303 {source="DOID:4658"}
xref: SCTID:134333006 {source="DOID:4658"}
xref: SCTID:189506005 {source="DOID:4658"}
xref: SCTID:190020000 {source="DOID:4658"}
xref: SCTID:404171008 {source="DOID:4658"}
xref: SCTID:89796001 {source="DOID:4658"}
xref: UMLS:C2242987 {source="MEDGEN:384518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003079 {source="MONDO:Redundant", source="NCIT:C3217"} ! mastocytoma
intersection_of: MONDO:0003079 ! mastocytoma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0021049
name: vulvar neoplasm
def: "A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma." [NCIT:C3443]
subset: otar {source="MONDO:OTAR"}
synonym: "mammalian vulva neoplasm" EXACT []
synonym: "mammalian vulva neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "mammalian vulva tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "mammalian vulva tumour" EXACT OMO:0003005 []
synonym: "neoplasm of mammalian vulva" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the vulva" EXACT [NCIT:C3443]
synonym: "neoplasm of vulva" EXACT [NCIT:C3443]
synonym: "tumor of mammalian vulva" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the vulva" EXACT [NCIT:C3443]
synonym: "tumor of vulva" EXACT [NCIT:C3443]
synonym: "tumour of mammalian vulva" EXACT OMO:0003005 []
synonym: "tumour of the vulva" EXACT OMO:0003005 []
synonym: "tumour of vulva" EXACT OMO:0003005 []
synonym: "vulva neoplasm" EXACT [NCIT:C3443]
synonym: "vulva tumor" EXACT [NCIT:C3443]
synonym: "vulva tumour" EXACT OMO:0003005 []
synonym: "vulval neoplasm" EXACT [DOID:1245]
synonym: "vulvar neoplasm" EXACT [DOID:1245, NCIT:C3443]
synonym: "vulvar tumor" EXACT [DOID:1245, NCIT:C3443]
synonym: "vulvar tumour" EXACT OMO:0003005 []
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:22689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3443 {source="MONDO:equivalentTo"}
xref: SCTID:126922007 {source="MONDO:equivalentTo"}
xref: UMLS:C0042995 {source="MEDGEN:22689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002187 {source="NCIT:C3443"} ! vulvar disease
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3443"} ! female reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0021050
name: vaginal neoplasm
def: "A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma." [NCIT:C3437]
comment: Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the vagina" EXACT [NCIT:C3437]
synonym: "neoplasm of vagina" EXACT [MONDO:patterns/neoplasm, NCIT:C3437]
synonym: "tumor of the vagina" EXACT [NCIT:C3437]
synonym: "tumor of vagina" EXACT [MONDO:patterns/neoplasm, NCIT:C3437]
synonym: "tumour of the vagina" EXACT OMO:0003005 []
synonym: "tumour of vagina" EXACT OMO:0003005 []
synonym: "vagina neoplasm" EXACT [NCIT:C3437]
synonym: "vagina neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "vagina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3437]
synonym: "vagina tumour" EXACT OMO:0003005 []
synonym: "vaginal neoplasm" EXACT [NCIT:C3437]
synonym: "vaginal tumor" EXACT [NCIT:C3437]
synonym: "vaginal tumour" EXACT OMO:0003005 []
xref: EFO:1001447 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:22608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3437 {source="MONDO:equivalentTo"}
xref: ONCOTREE:VULVA {source="MONDO:relatedTo"}
xref: SCTID:126921000 {source="MONDO:equivalentTo"}
xref: UMLS:C0042258 {source="MEDGEN:22608", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001433 {source="MONDO:Redundant", source="NCIT:C3437"} ! vaginal disorder
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3437"} ! female reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0021051
name: obsolete hemophagocytic syndrome
is_obsolete: true
replaced_by: MONDO:0015540

[Term]
id: MONDO:0021052
name: parasympathetic paraganglioma
def: "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas." [NCIT:C4217]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paraganglioma of parasympathetic nervous system" EXACT [MONDO:design_pattern]
synonym: "parasympathetic Extra-adrenal paraganglioma" EXACT [NCIT:C4217]
synonym: "parasympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location]
synonym: "parasympathetic paraganglioma" EXACT [NCIT:C4217]
synonym: "parasympathetic Paraganglionic neoplasm" EXACT [NCIT:C4217]
xref: ICDO:8682/1 {source="NCIT:C4217"}
xref: MEDGEN:90779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4217 {source="MONDO:equivalentTo"}
xref: UMLS:C0334416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90779"}
is_a: MONDO:0000448 {source="MONDO:Redundant", source="NCIT:C4217/inferred"} ! paraganglioma
intersection_of: MONDO:0000448 {source="NCIT:C4217"} ! paraganglioma
intersection_of: disease_has_location UBERON:0000011 {source="NCIT:C4217"} ! parasympathetic nervous system

[Term]
id: MONDO:0021053
name: carotid body paraganglioma
def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck." [NCIT:C2932]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carotid body chemodectoma" RELATED [NCIT:C2932]
synonym: "carotid body paraganglioma" EXACT [MONDO:patterns/location, NCIT:C2932]
synonym: "carotid body tumor" RELATED [NCIT:C2932]
synonym: "carotid body tumour" RELATED OMO:0003005 []
synonym: "chemodectoma" RELATED [NCIT:C2932]
synonym: "chemodectoma, undetermined" RELATED [NCIT:C2932]
synonym: "paraganglioma of carotid body" EXACT [NCIT:C2932]
synonym: "paraganglioma of the carotid body" RELATED [NCIT:C2932]
synonym: "tumor of carotid body" RELATED [NCIT:C2932]
synonym: "tumor of the carotid body" RELATED [NCIT:C2932]
synonym: "tumour of carotid body" RELATED OMO:0003005 []
synonym: "tumour of the carotid body" RELATED OMO:0003005 []
xref: ICDO:8692/1 {source="NCIT:C2932"}
xref: MEDGEN:2853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2932 {source="MONDO:equivalentTo"}
xref: UMLS:C0007279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2853"}
is_a: MONDO:0006239 {source="NCIT:C2932"} ! head and neck paraganglioma
is_a: MONDO:0021052 {source="NCIT:C2932"} ! parasympathetic paraganglioma
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: disease_has_location UBERON:0001629 ! carotid body

[Term]
id: MONDO:0021054
name: bone sarcoma
def: "A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma." [NCIT:C9312]
subset: disease_grouping
subset: gard_rare {source="GARD:20547", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:223727"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone sarcoma" EXACT [MONDO:0016388, NCIT:C9312]
synonym: "osseous sarcoma" EXACT [NCIT:C9312]
synonym: "sarcoma of bone" EXACT [NCIT:C9312]
synonym: "sarcoma of the bone" EXACT [NCIT:C9312]
synonym: "skeletal sarcoma" EXACT [NCIT:C9312]
xref: DOID:0080639 {source="MONDO:equivalentTo"}
xref: GARD:20547 {source="MONDO:GARD"}
xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10006007 {source="Orphanet:223727/e", source="Orphanet:223727"}
xref: MEDGEN:352831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9312 {source="MONDO:equivalentTo"}
xref: Orphanet:223727 {source="MONDO:equivalentTo"}
xref: SCTID:448710000 {source="MONDO:equivalentTo"}
xref: UMLS:C1704327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:352831"}
is_a: MONDO:0002129 {source="MONDO:Redundant", source="NCIT:C9312"} ! bone cancer
is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C9312"} ! sarcoma
is_a: MONDO:0019060 {source="NCIT:C9312/inferred", source="Orphanet:223727"} ! bone neoplasm
intersection_of: MONDO:0005089 {source="NCIT:C9312"} ! sarcoma
intersection_of: disease_arises_from_structure UBERON:0002384 {source="NCIT:C9312"} ! connective tissue
intersection_of: disease_has_location UBERON:0001474 {source="NCIT:C9312"} ! bone element

[Term]
id: MONDO:0021055
name: classic familial adenomatous polyposis
def: "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life." [Orphanet:733]
subset: gard_rare {source="GARD:6408", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1121"}
subset: ordo_disorder {source="Orphanet:733"}
subset: orphanet_rare {source="Orphanet:733"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenomatous polyposis coli" EXACT [NCIT:C3339]
synonym: "adenomatous polyposis of the colon" EXACT [DOID:0050424]
synonym: "APC - adenomatous polyposis coli" EXACT [NCIT:C3339]
synonym: "classic familial adenomatous polyposis" EXACT CLINGEN_LABEL []
synonym: "classic FAP" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "colorectal adenomatous polyposis" EXACT [Orphanet:733]
synonym: "Familial Adenomatous Polyposis" EXACT [NORD:1121]
synonym: "familial adenomatous polyposis" EXACT [DECIPHER:49, NCIT:C3339]
synonym: "familial adenomatous polyposis coli" EXACT [NCIT:C3339]
synonym: "familial adenomatous polyposis of the colon" RELATED [GARD:0006408]
synonym: "familial adenomatous polyposis syndrome" EXACT [NCIT:C3339]
synonym: "familial multiple polyposis" RELATED [GARD:0006408]
synonym: "familial polyposis" EXACT [NCIT:C3339]
synonym: "familial polyposis coli" EXACT [Orphanet:733]
synonym: "FAP" EXACT ABBREVIATION [NCIT:C3339, Orphanet:733]
synonym: "FPC" RELATED ABBREVIATION [GARD:0006408]
synonym: "hereditary adenomatous polyposis coli" EXACT [NCIT:C3339]
synonym: "hereditary polyposis coli" RELATED [GARD:0006408]
synonym: "polyposis coli" EXACT [NCIT:C3339]
xref: DECIPHER:49 {source="MONDO:equivalentTo"}
xref: DOID:0050424 {source="MONDO:equivalentTo"}
xref: GARD:6408 {source="MONDO:GARD"}
xref: ICD10CM:D12.6 {source="Orphanet:733", source="Orphanet:733/attributed", source="Orphanet:733/ntbt"}
xref: ICDO:8220/0 {source="NCIT:C3339"}
xref: MedDRA:10056981 {source="Orphanet:733", source="Orphanet:733/e"}
xref: MEDGEN:46010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011125 {source="Orphanet:733", source="DOID:0050424", source="Orphanet:733/e"}
xref: NANDO:2200915 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3339 {source="MONDO:equivalentTo", source="DOID:0050424"}
xref: NORD:1121 {source="MONDO:NORD"}
xref: OMIMPS:175100 {source="MONDO:equivalentTo"}
xref: Orphanet:733 {source="MONDO:equivalentTo"}
xref: SCTID:154609001 {source="DOID:0050424"}
xref: SCTID:188828009 {source="DOID:0050424"}
xref: SCTID:269636003 {source="DOID:0050424"}
xref: SCTID:423471004 {source="DOID:0050424"}
xref: SCTID:70921007 {source="DOID:0050424"}
xref: SCTID:72900001 {source="MONDO:equivalentTo", source="DOID:0050424"}
xref: UMLS:C0032580 {source="MONDO:equivalentTo", source="MEDGEN:46010", source="MONDO:MEDGEN"}
is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C3339", source="Orphanet:733", source="Orphanet:733/inferred"} ! hereditary neoplastic syndrome
is_a: MONDO:0021057 {source="https://orcid.org/0000-0002-6601-2165"} ! classic or attenuated familial adenomatous polyposis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:175100"} ! inherited

[Term]
id: MONDO:0021056
name: familial adenomatous polyposis 1
def: "Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoma, periampullary, somatic" EXACT [OMIM:175100, OMIM:genemap2]
synonym: "adenomatous polyposis coli" BROAD [OMIM:175100, OMIM:genemap2]
synonym: "adenomatous polyposis coli, attenuated" RELATED [OMIM:175100]
synonym: "adenomatous polyposis of the colon" RELATED [OMIM:175100]
synonym: "APC attenuated familial adenomatous polyposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "attenuated familial adenomatous polyposis caused by mutation in APC" EXACT [MONDO:design_pattern]
synonym: "brain tumor-polyposis syndrome 2" RELATED [OMIM:175100]
synonym: "familial adenomatous polyposis 1" EXACT [MONDO:Lexical, OMIM:175100]
synonym: "familial adenomatous polyposis, attenuated" RELATED [OMIM:175100]
synonym: "familial polyposis of the colon" RELATED [OMIM:175100]
synonym: "FAP1" EXACT ABBREVIATION [OMIM:175100]
synonym: "Gardner syndrome" RELATED [OMIM:175100]
synonym: "polyposis, adenomatous intestinal" RELATED [OMIM:175100]
xref: DOID:0080409 {source="MONDO:equivalentTo"}
xref: MEDGEN:398651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:175100 {source="MONDO:equivalentTo"}
xref: Orphanet:220460 {source="OMIM:175100"}
xref: Orphanet:247806 {source="OMIM:175100", source="MONDO:directSiblingOf"}
xref: Orphanet:733 {source="OMIM:175100"}
xref: Orphanet:79665 {source="OMIM:175100", source="MONDO:directSiblingOf"}
xref: Orphanet:99818 {source="OMIM:175100", source="MONDO:directSiblingOf"}
xref: UMLS:C2713442 {source="MEDGEN:398651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016362 {source="MONDO:Redundant", source="Orphanet:220460/btnt"} ! attenuated familial adenomatous polyposis
is_a: MONDO:0021055 {source="DC-OMIM:175100", source="OMIM:175100"} ! classic familial adenomatous polyposis
intersection_of: MONDO:0016362 ! attenuated familial adenomatous polyposis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 ! APC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 {source="MONDO:mim2gene_medgen"} ! APC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0021057
name: classic or attenuated familial adenomatous polyposis
def: "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP." [https://orcid.org/0000-0002-6601-2165]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic or attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL []
synonym: "classic or attenuated FAP" EXACT []
is_a: MONDO:0015185 {source="Orphanet:220460"} ! intestinal polyposis syndrome

[Term]
id: MONDO:0021058
name: neoplastic syndrome
def: "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." [NCIT:C54705]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer-related syndrome" EXACT [NCIT:C54705]
synonym: "neoplastic syndrome" EXACT [NCIT:C54705]
synonym: "tumor syndrome" EXACT [NCIT:C54705]
synonym: "tumour syndrome" EXACT OMO:0003005 []
xref: MEDGEN:362147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54705 {source="MONDO:equivalentTo"}
xref: UMLS:C1882062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:362147"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C54705"} ! syndromic disease
is_a: MONDO:0023370 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! neoplastic disease or syndrome
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_major_feature MONDO:0005070 ! neoplasm
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016645"} ! rare

[Term]
id: MONDO:0021059
name: obsolete head or neck disorder/disorder
def: "OBSOLETE. Any disease or disorder affecting the head and/or neck region." [https://orcid.org/0000-0002-6601-2165]
comment: Reason: grouping class. Term to consider: none
synonym: "craniocervical region disease" EXACT [MONDO:patterns/location]
synonym: "craniocervical region disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of craniocervical region" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of craniocervical region" EXACT []
synonym: "disorder of craniocervical region" EXACT [MONDO:patterns/location_top]
synonym: "head and neck disorder" EXACT [NCIT:C27571]
synonym: "head or neck disorder" EXACT []
xref: ICD10CM:M26-M27 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: NCIT:C27571 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4111" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021060
name: RASopathy
def: "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." [Wikipedia:RASopathy]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:22213", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:536391"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of Ras protein signal transduction" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "Ras protein signal transduction disease" EXACT [MONDO:design_pattern]
synonym: "RASopathy" EXACT CLINGEN_LABEL []
xref: DOID:0080690 {source="MONDO:equivalentTo"}
xref: EFO:1001502 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22213 {source="MONDO:GARD"}
xref: MEDGEN:1792298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C179667 {xref="MONDO:equivalentTo"}
xref: Orphanet:536391 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/606"}
xref: UMLS:C5555857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1792298"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-0736-9199"} ! hereditary disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0007265 ! Ras protein signal transduction

[Term]
id: MONDO:0021061
name: neurofibromatosis
def: "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." [https://orcid.org/0000-0002-6601-2165, NCIT:C6727, Wikipedia:Neurofibromatosis]
subset: gard_rare {source="GARD:10420", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acoustic neurofibromatosis" EXACT [DOID:8712]
synonym: "central Neurofibromatosis" EXACT [DOID:8712]
synonym: "neurofibromatosis" EXACT [NCIT:C6727]
synonym: "neurofibromatosis syndrome" EXACT [NCIT:C6727]
synonym: "neurofibromatosis type 1" NARROW EXCLUDE [DOID:8712]
synonym: "neurofibromatosis type 2" NARROW [DOID:8712]
synonym: "neurofibromatosis type 4" NARROW [DOID:8712]
synonym: "neurofibromatosis type IV" NARROW [DOID:8712]
synonym: "peripheral Neurofibromatosis" EXACT [DOID:8712]
synonym: "Recklinghausen's neurofibromatosis" EXACT [DOID:8712]
synonym: "type IV neurofibromatosis of riccardi" EXACT [DOID:8712]
synonym: "von Reklinghausen disease" EXACT [DOID:8712]
xref: DOID:8712 {source="MONDO:equivalentTo"}
xref: EFO:0008514 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:10420 {source="MONDO:GARD"}
xref: ICD10CM:Q85.00 {source="DOID:8712"}
xref: ICD10CM:Q85.01 {source="DOID:8712"}
xref: ICD10CM:Q85.02 {source="DOID:8712"}
xref: ICD9:237.7 {source="DOID:8712"}
xref: ICD9:237.70 {source="DOID:8712", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:237.71 {source="DOID:8712"}
xref: ICD9:237.72 {source="DOID:8712"}
xref: ICDO:9540/1 {source="NCIT:C6727"}
xref: MEDGEN:58149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017253 {source="MONDO:equivalentTo"}
xref: NANDO:1200225 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200226 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200227 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201003 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6727 {source="MONDO:equivalentTo"}
xref: SCTID:154642000 {source="DOID:8712"}
xref: SCTID:19133005 {source="DOID:8712", source="MONDO:equivalentTo"}
xref: SCTID:700060008 {source="DOID:8712"}
xref: SCTID:700061007 {source="DOID:8712"}
xref: SCTID:81669005 {source="DOID:8712"}
xref: SCTID:92503002 {source="DOID:8712"}
xref: SCTID:92824003 {source="DOID:8712"}
xref: UMLS:C0162678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:58149"}
is_a: MONDO:0000426 {source="DOID:8712", source="Wikipedia:Neurofibromatosis"} ! autosomal dominant disease
is_a: MONDO:0015356 {source="MESH:D017253", source="NCIT:C6727/inferred", source="NCIT:C84348"} ! hereditary neoplastic syndrome
is_a: MONDO:0042983 {source="MESH:D017253", source="NCIT:C6727", source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome

[Term]
id: MONDO:0021062
name: obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary
xref: Orphanet:306539 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
replaced_by: MONDO:0016382

[Term]
id: MONDO:0021063
name: malignant colon neoplasm
def: "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C9242]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of colon" EXACT [MONDO:patterns/cancer]
synonym: "colon cancer" EXACT [MONDO:patterns/location]
synonym: "colon neoplasm, malignant" EXACT [NCIT:C9242]
synonym: "colon tumor, malignant" EXACT [NCIT:C9242]
synonym: "malignant colon neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9242]
synonym: "malignant colon tumor" EXACT [NCIT:C9242]
synonym: "malignant colon tumour" EXACT OMO:0003005 []
synonym: "malignant colonic neoplasm" EXACT [NCIT:C9242]
synonym: "malignant colonic tumor" EXACT [NCIT:C9242]
synonym: "malignant colonic tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of colon" EXACT [MONDO:patterns/cancer, NCIT:C9242]
synonym: "malignant neoplasm of the colon" EXACT [NCIT:C9242]
synonym: "malignant tumor of colon" EXACT [NCIT:C9242]
synonym: "malignant tumor of the colon" EXACT [NCIT:C9242]
synonym: "malignant tumour of colon" EXACT OMO:0003005 []
synonym: "malignant tumour of the colon" EXACT OMO:0003005 []
xref: DOID:219 {source="EFO:0004288", source="MONDO:equivalentTo"}
xref: ICD10CM:C18 {source="DOID:219"}
xref: ICD10CM:C18.9 {source="DOID:219"}
xref: ICD9:153 {source="DOID:219"}
xref: ICD9:153.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:153.9 {source="DOID:219", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9242 {source="MONDO:equivalentTo"}
xref: SCTID:154463007 {source="DOID:219"}
xref: SCTID:187759003 {source="DOID:219"}
xref: SCTID:269461008 {source="DOID:219"}
xref: SCTID:269542007 {source="DOID:219"}
xref: SCTID:363406005 {source="DOID:219", source="MONDO:equivalentTo"}
xref: SCTID:93761005 {source="DOID:219"}
xref: UMLS:C0007102 {source="MEDGEN:2839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C9242"} ! colonic neoplasm
is_a: MONDO:0005575 {source="DOID:219", source="MONDO:Redundant", source="NCIT:C9242"} ! colorectal cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0021064
name: jugulotympanic paraganglioma
def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear." [NCIT:C3061]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "basicranium parasympathetic paraganglioma" EXACT [MONDO:patterns/location]
synonym: "glomus jugulare neoplasm" EXACT [NCIT:C3061]
synonym: "glomus jugulare tumor" EXACT [NCIT:C3061]
synonym: "glomus jugulare tumour" EXACT OMO:0003005 []
synonym: "Glomus tumor" RELATED [GARD:0010599]
synonym: "Glomus tumour" RELATED OMO:0003005 []
synonym: "jugular body neoplasm" EXACT []
synonym: "jugular body neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "jugular body tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "jugular body tumour" EXACT OMO:0003005 []
synonym: "jugular paraganglioma" EXACT [NCIT:C3061]
synonym: "jugulotympanic paraganglioma" EXACT [NCIT:C3061]
synonym: "neoplasm of glomus jugulare" EXACT [NCIT:C3061]
synonym: "neoplasm of jugular body" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the glomus jugulare" EXACT [NCIT:C3061]
synonym: "Paraganglioma - glomus jugulare" RELATED [GARD:0010599]
synonym: "parasympathetic paraganglioma of basicranium" EXACT [MONDO:design_pattern]
synonym: "tumor of glomus jugulare" EXACT [NCIT:C3061]
synonym: "tumor of jugular body" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the glomus jugulare" EXACT [NCIT:C3061]
synonym: "tumour of glomus jugulare" EXACT OMO:0003005 []
synonym: "tumour of jugular body" EXACT OMO:0003005 []
synonym: "tumour of the glomus jugulare" EXACT OMO:0003005 []
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8690/1 {source="NCIT:C3061"}
xref: MEDGEN:4905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3061 {source="MONDO:equivalentTo"}
xref: SCTID:127030001 {source="MONDO:equivalentTo"}
xref: UMLS:C0017671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4905"}
is_a: MONDO:0006239 {source="MONDO:Redundant", source="NCIT:C3061"} ! head and neck paraganglioma
is_a: MONDO:0021052 {source="MONDO:Redundant", source="NCIT:C3061"} ! parasympathetic paraganglioma
intersection_of: MONDO:0021052 {source="NCIT:C3061"} ! parasympathetic paraganglioma
intersection_of: disease_has_location UBERON:0002517 {source="NCIT:C3061"} ! basicranium
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0021065
name: pleural neoplasm
def: "A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura." [NCIT:C3332]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of pleura" EXACT [MONDO:patterns/neoplasm, NCIT:C3332]
synonym: "neoplasm of pleural cavity" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the pleura" EXACT [NCIT:C3332]
synonym: "pleura neoplasm" EXACT []
synonym: "pleura neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pleura tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "pleura tumour" EXACT OMO:0003005 []
synonym: "pleural cavity neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pleural cavity tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "pleural cavity tumour" EXACT OMO:0003005 []
synonym: "pleural neoplasm" EXACT [NCIT:C3332]
synonym: "pleural tumor" EXACT [NCIT:C3332]
synonym: "pleural tumour" EXACT OMO:0003005 []
synonym: "tumor of pleura" EXACT [MONDO:patterns/neoplasm, NCIT:C3332]
synonym: "tumor of the pleura" EXACT [NCIT:C3332]
synonym: "tumour of pleura" EXACT OMO:0003005 []
synonym: "tumour of the pleura" EXACT OMO:0003005 []
xref: MEDGEN:18523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010997 {source="MONDO:equivalentTo"}
xref: NCIT:C12469 {source="ONCOTREE:PLEURA"}
xref: NCIT:C3332 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PLEURA {source="MONDO:equivalentTo"}
xref: SCTID:126719004 {source="MONDO:equivalentTo"}
xref: UMLS:C0032229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18523"}
is_a: MONDO:0002037 {source="MONDO:Redundant", source="NCIT:C3332"} ! pleural disorder
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3332/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0021066
name: urinary system neoplasm
def: "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003" [NCIT:C3431]
comment: Editor note: note the ONCOTREE class is more general than just bladder
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of renal system" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the urinary system" EXACT [NCIT:C3431]
synonym: "neoplasm of the urinary tract" EXACT [NCIT:C3431]
synonym: "neoplasm of urinary system" EXACT [NCIT:C3431]
synonym: "neoplasm of urinary tract" EXACT [NCIT:C3431]
synonym: "renal system neoplasm" EXACT []
synonym: "renal system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "renal system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "renal system tumour" EXACT OMO:0003005 []
synonym: "tumor of renal system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the urinary system" EXACT [NCIT:C3431]
synonym: "tumor of the urinary tract" EXACT [NCIT:C3431]
synonym: "tumor of urinary system" EXACT [NCIT:C3431]
synonym: "tumor of urinary tract" EXACT [NCIT:C3431]
synonym: "tumour of renal system" EXACT OMO:0003005 []
synonym: "tumour of the urinary system" EXACT OMO:0003005 []
synonym: "tumour of the urinary tract" EXACT OMO:0003005 []
synonym: "tumour of urinary system" EXACT OMO:0003005 []
synonym: "tumour of urinary tract" EXACT OMO:0003005 []
synonym: "urinary system neoplasm" EXACT [NCIT:C3431]
synonym: "urinary system tumor" EXACT [NCIT:C3431]
synonym: "urinary system tumour" EXACT OMO:0003005 []
synonym: "urinary tract neoplasm" EXACT [NCIT:C3431]
synonym: "urinary tract tumor" EXACT [NCIT:C3431]
synonym: "urinary tract tumour" EXACT OMO:0003005 []
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:52949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3431 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BLADDER {source="MONDO:equivalentTo"}
xref: SCTID:126879004 {source="MONDO:equivalentTo"}
xref: UMLS:C0042076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52949"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3431/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001008 ! renal system

[Term]
id: MONDO:0021067
name: mediastinal germ cell tumor
def: "A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor." [NCIT:C6437]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "germ cell neoplasm of mediastinum" EXACT [NCIT:C6437]
synonym: "germ cell neoplasm of the mediastinum" EXACT [NCIT:C6437]
synonym: "germ cell tumor of mediastinum" EXACT [NCIT:C6437]
synonym: "germ cell tumor of the mediastinum" EXACT [NCIT:C6437]
synonym: "germ cell tumour of mediastinum" EXACT OMO:0003005 []
synonym: "germ cell tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "mediastinal germ cell neoplasm" EXACT [NCIT:C6437]
synonym: "mediastinal germ cell tumor" EXACT [NCIT:C6437]
synonym: "mediastinum germ cell tumor" EXACT [MONDO:patterns/location]
synonym: "mediastinum germ cell tumour" EXACT OMO:0003005 []
synonym: "thymic germ cell tumor" EXACT [NCIT:C6437]
synonym: "thymic germ cell tumour" EXACT OMO:0003005 []
xref: MEDGEN:233678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6437 {source="MONDO:equivalentTo"}
xref: UMLS:C1334655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233678"}
is_a: MONDO:0018201 {source="NCIT:C6437"} ! extragonadal germ cell tumor
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C6437"} ! neoplasm of mediastinum
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0021068
name: ovarian neoplasm
def: "A benign, borderline, or malignant neoplasm involving the ovary." [NCIT:C4984]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of ovary" EXACT [MONDO:patterns/neoplasm, NCIT:C4984]
synonym: "neoplasm of the ovary" EXACT [NCIT:C4984]
synonym: "ovarian neoplasm" EXACT [NCIT:C4984]
synonym: "ovarian tumor" EXACT [NCIT:C4984]
synonym: "ovarian tumors" EXACT [NCIT:C4984]
synonym: "ovarian tumour" EXACT OMO:0003005 []
synonym: "ovarian tumours" EXACT OMO:0003005 []
synonym: "ovary neoplasm" EXACT []
synonym: "ovary neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ovary tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "ovary tumour" EXACT OMO:0003005 []
synonym: "tumor of ovary" EXACT [MONDO:patterns/neoplasm, NCIT:C4984]
synonym: "tumor of the ovary" EXACT [NCIT:C4984]
synonym: "tumour of ovary" EXACT OMO:0003005 []
synonym: "tumour of the ovary" EXACT OMO:0003005 []
xref: EFO:0003893 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:181539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4984 {source="MONDO:equivalentTo"}
xref: SCTID:123843001 {source="MONDO:equivalentTo"}
xref: UMLS:C0919267 {source="MONDO:equivalentTo", source="MEDGEN:181539", source="MONDO:MEDGEN"}
is_a: MONDO:0005558 {source="MONDO:Redundant", source="NCIT:C4984"} ! ovarian disorder
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C4984"} ! female reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0021069
name: malignant endocrine neoplasm
def: "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma." [NCIT:C3575]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of endocrine gland" EXACT [MONDO:patterns/cancer]
synonym: "endocrine cancer" EXACT [NCIT:C3575]
synonym: "endocrine cancer, NOS" RELATED EXCLUDE [NCIT:C3575]
synonym: "endocrine gland cancer" EXACT [MONDO:patterns/location]
synonym: "endocrine neoplasm" BROAD [DOID:170]
synonym: "endocrine neoplasm, malignant" EXACT [NCIT:C3575]
synonym: "Endocrine tumor" EXACT [DOID:170]
synonym: "Endocrine tumour" EXACT OMO:0003005 []
synonym: "malignant endocrine gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3575]
synonym: "malignant endocrine gland tumor" EXACT [NCIT:C3575]
synonym: "malignant endocrine gland tumour" EXACT OMO:0003005 []
synonym: "malignant endocrine neoplasm" EXACT [NCIT:C3575]
synonym: "malignant endocrine tumor" EXACT [NCIT:C3575]
synonym: "malignant endocrine tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of endocrine gland" EXACT [MONDO:patterns/cancer, NCIT:C3575]
synonym: "malignant neoplasm of the endocrine gland" EXACT [NCIT:C3575]
synonym: "malignant tumor of endocrine gland" EXACT [DOID:170, NCIT:C3575]
synonym: "malignant tumor of the endocrine gland" EXACT [NCIT:C3575]
synonym: "malignant tumour of endocrine gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the endocrine gland" EXACT OMO:0003005 []
synonym: "neoplasm of endocrine gland" RELATED EXCLUDE [DOID:170]
synonym: "neoplasm of endocrine system" EXACT [DOID:170]
xref: DOID:170 {source="MONDO:equivalentTo"}
xref: ICD10CM:C73-C75 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:C75.9 {source="DOID:170"}
xref: ICD9:194.9 {source="DOID:170"}
xref: MEDGEN:56319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004701 {source="DOID:170", source="MONDO:equivalentTo"}
xref: NCIT:C3010 {source="DOID:170"}
xref: NCIT:C3575 {source="DOID:170", source="MONDO:equivalentTo"}
xref: SCTID:127015005 {source="DOID:170"}
xref: SCTID:190140005 {source="DOID:170"}
xref: SCTID:363347009 {source="DOID:170"}
xref: SCTID:371982006 {source="DOID:170"}
xref: SCTID:387922007 {source="DOID:170"}
xref: SCTID:387927001 {source="DOID:170"}
xref: SCTID:93780007 {source="DOID:170"}
xref: UMLS:C0153658 {source="MEDGEN:56319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C3575"} ! endocrine gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002368 ! endocrine gland

[Term]
id: MONDO:0021070
name: sublingual gland carcinoma
def: "A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma." [NCIT:C8397]
synonym: "carcinoma of sublingual gland" EXACT [MONDO:patterns/carcinoma, NCIT:C8397]
synonym: "carcinoma of the sublingual gland" EXACT [NCIT:C8397]
synonym: "sublingual gland cancer" BROAD [NCIT:C8397]
synonym: "sublingual gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C8397]
xref: MEDGEN:83385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8397 {source="MONDO:equivalentTo"}
xref: SCTID:254466003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83385"}
is_a: MONDO:0004667 {source="MONDO:Redundant", source="NCIT:C8397"} ! sublingual gland cancer
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C8397"} ! major salivary gland carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001832 ! sublingual gland

[Term]
id: MONDO:0021071
name: laryngeal neoplasm
def: "A benign or malignant neoplasm involving the larynx." [NCIT:C3156]
subset: otar {source="MONDO:OTAR"}
synonym: "laryngeal neoplasm" EXACT [NCIT:C3156]
synonym: "laryngeal tumor" EXACT [NCIT:C3156]
synonym: "laryngeal tumour" EXACT OMO:0003005 []
synonym: "larynx neoplasm" EXACT [NCIT:C3156]
synonym: "larynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "larynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3156]
synonym: "larynx tumour" EXACT OMO:0003005 []
synonym: "neoplasm of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156]
synonym: "neoplasm of the larynx" EXACT [NCIT:C3156]
synonym: "tumor of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156]
synonym: "tumor of the larynx" EXACT [NCIT:C3156]
synonym: "tumour of larynx" EXACT OMO:0003005 []
synonym: "tumour of the larynx" EXACT OMO:0003005 []
xref: EFO:0003817 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:7271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007822 {source="MONDO:equivalentTo"}
xref: NCIT:C3156 {source="MONDO:equivalentTo"}
xref: SCTID:126692004 {source="MONDO:equivalentTo"}
xref: UMLS:C0023055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7271"}
is_a: MONDO:0004382 {source="MESH:D007822", source="MONDO:Redundant", source="NCIT:C3156"} ! laryngeal disorder
is_a: MONDO:0005070 {source="MESH:D007822/inferred", source="MONDO:Redundant", source="NCIT:C3156/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001737 ! larynx

[Term]
id: MONDO:0021072
name: sympathetic paraganglioma
def: "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension." [NCIT:C4216]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromaffin neoplasm" EXACT [NCIT:C4216]
synonym: "chromaffin tumor" EXACT [NCIT:C4216]
synonym: "chromaffin tumour" EXACT OMO:0003005 []
synonym: "Chromaffinoma" EXACT [NCIT:C4216]
synonym: "paraganglioma of sympathetic nervous system" EXACT [MONDO:design_pattern]
synonym: "sympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location]
synonym: "sympathetic paraganglioma" EXACT [NCIT:C4216]
synonym: "sympathetic Paraganglionic neoplasm" EXACT [NCIT:C4216]
xref: ICDO:8681/1 {source="NCIT:C4216"}
xref: MEDGEN:137758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531777 {source="MONDO:equivalentTo"}
xref: NCIT:C4216 {source="MONDO:equivalentTo"}
xref: SCTID:399343007 {source="MONDO:equivalentTo"}
xref: UMLS:C0334415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137758"}
is_a: MONDO:0000448 {source="MONDO:Redundant", source="NCIT:C4216"} ! paraganglioma
is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C4216/inferred"} ! epithelial neoplasm
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: disease_has_location UBERON:0000013 ! sympathetic nervous system
relationship: disease_arises_from_structure CL:0000166 {source="NCIT:C4216"} ! chromaffin cell

[Term]
id: MONDO:0021073
name: paraneoplastic syndrome
def: "A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm." [NCIT:C3311]
synonym: "paraneoplastic syndrome" EXACT [NCIT:C3311]
xref: MEDGEN:45320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010257 {source="MONDO:equivalentTo"}
xref: NCIT:C3311 {source="MONDO:equivalentTo"}
xref: SCTID:49783001 {source="MONDO:equivalentTo"}
xref: UMLS:C0030472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45320"}
is_a: MONDO:0002254 {source="NCIT:C3311"} ! syndromic disease
is_a: MONDO:0045054 {source="https://orcid.org/0000-0002-4142-7153"} ! cancer-related condition

[Term]
id: MONDO:0021074
name: precancerous condition
def: "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia." [NCIT:C3341]
comment: Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "precancerous condition" EXACT [NCIT:C3341]
synonym: "precancerous state" EXACT [NCIT:C3341]
synonym: "premalignant condition" EXACT [NCIT:C3341]
synonym: "premalignant state" EXACT [NCIT:C3341]
xref: MEDGEN:19442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011230 {source="MONDO:equivalentTo"}
xref: NCIT:C3341 {source="MONDO:equivalentTo"}
xref: UMLS:C0032927 {source="MEDGEN:19442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor

[Term]
id: MONDO:0021075
name: neoplastic polyp
subset: otar {source="MONDO:OTAR"}
synonym: "neoplastic polyp" EXACT [NCIT:C7068]
xref: MEDGEN:233751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7068 {source="MONDO:equivalentTo"}
xref: UMLS:C1334941 {source="MONDO:equivalentTo", source="MEDGEN:233751", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="NCIT:C7068"} ! polyp
is_a: MONDO:0021074 {source="NCIT:C7068"} ! precancerous condition

[Term]
id: MONDO:0021076
name: pancreatic exocrine neoplasm
def: "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue." [NCIT:C4445]
subset: otar {source="MONDO:OTAR"}
synonym: "exocrine pancreas neoplasm" EXACT [NCIT:C4445]
synonym: "exocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "exocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4445]
synonym: "exocrine pancreas tumour" EXACT OMO:0003005 []
synonym: "neoplasm of exocrine pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C4445]
synonym: "neoplasm of the exocrine pancreas" EXACT [NCIT:C4445]
synonym: "pancreatic exocrine neoplasm" EXACT [NCIT:C4445]
synonym: "pancreatic exocrine tumor" EXACT [NCIT:C4445]
synonym: "pancreatic exocrine tumour" EXACT OMO:0003005 []
synonym: "tumor of exocrine pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C4445]
synonym: "tumor of the exocrine pancreas" EXACT [NCIT:C4445]
synonym: "tumour of exocrine pancreas" EXACT OMO:0003005 []
synonym: "tumour of the exocrine pancreas" EXACT OMO:0003005 []
xref: ICD9:235.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4445 {source="MONDO:equivalentTo"}
xref: SCTID:254604005 {source="MONDO:equivalentTo"}
xref: UMLS:C0345920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138030"}
is_a: MONDO:0021040 {source="MONDO:Redundant", source="NCIT:C4445"} ! pancreatic neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000017 ! exocrine pancreas

[Term]
id: MONDO:0021077
name: cystic neoplasm
def: "A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma." [NCIT:C6784]
subset: otar {source="MONDO:OTAR"}
synonym: "cystic neoplasm" EXACT [NCIT:C6784]
synonym: "cystic tumor" EXACT [NCIT:C6784]
synonym: "cystic tumour" EXACT OMO:0003005 []
xref: MEDGEN:232404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6784 {source="MONDO:equivalentTo"}
xref: UMLS:C1333190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232404"}
is_a: MONDO:0005070 {source="NCIT:C6784/inferred"} ! neoplasm
relationship: has_characteristic PATO:0001673 ! cystic

[Term]
id: MONDO:0021078
name: glandular papilloma
subset: otar {source="MONDO:OTAR"}
synonym: "glandular papilloma" EXACT [NCIT:C6880]
xref: MEDGEN:482986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6880 {source="MONDO:equivalentTo"}
xref: UMLS:C3282896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482986"}
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C6880"} ! papilloma
is_a: MONDO:0024276 {source="MONDO:Redundant", source="NCIT:C6880"} ! glandular cell neoplasm
intersection_of: MONDO:0002363 {source="NCIT:C6880"} ! papilloma
intersection_of: MONDO:0024276 {source="NCIT:C6880"} ! glandular cell neoplasm

[Term]
id: MONDO:0021079
name: childhood neoplasm
def: "A benign or malignant neoplasm arising during childhood." [NCIT:C6283]
subset: otar {source="MONDO:OTAR"}
synonym: "childhood neoplasm" EXACT [NCIT:C6283]
synonym: "childhood neoplasm (disease)" EXACT []
synonym: "childhood tumor" EXACT [NCIT:C6283]
synonym: "childhood tumour" EXACT OMO:0003005 []
synonym: "neoplasm" BROAD EXCLUDE [NCIT:C6283]
synonym: "neoplasm (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "paediatric neoplasm" EXACT OMO:0003005 []
synonym: "paediatric neoplasm (disease)" EXACT OMO:0003005 []
synonym: "paediatric tumour" EXACT OMO:0003005 []
synonym: "pediatric neoplasm" EXACT [NCIT:C6283]
synonym: "pediatric neoplasm (disease)" EXACT [MONDO:patterns/childhood]
synonym: "pediatric tumor" EXACT [NCIT:C6283]
xref: MEDGEN:237153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6283 {source="MONDO:equivalentTo"}
xref: UMLS:C1368871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237153"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C6283/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0021080
name: blood vessel neoplasm
def: "A neoplasm arising from arteries or veins." [NCIT:C7387]
subset: otar {source="MONDO:OTAR"}
synonym: "blood vessel neoplasm" EXACT [NCIT:C7387]
synonym: "blood vessel neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "blood vessel tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7387]
synonym: "blood vessel tumour" EXACT OMO:0003005 []
synonym: "neoplasm of blood vessel" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of blood vessel" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of blood vessel" EXACT OMO:0003005 []
xref: MEDGEN:1651181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7387 {source="MONDO:equivalentTo"}
xref: SCTID:126736007 {source="MONDO:equivalentTo"}
xref: UMLS:C4722524 {source="MEDGEN:1651181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024296 {source="MONDO:Redundant", source="NCIT:C7387"} ! vascular neoplasm
intersection_of: MONDO:0005070 {source="NCIT:C7387"} ! neoplasm
intersection_of: disease_has_location UBERON:0001981 {source="NCIT:C7387"} ! blood vessel
relationship: disease_arises_from_structure UBERON:0004638 {source="NCIT:C7387"} ! blood vessel endothelium

[Term]
id: MONDO:0021081
name: anti-NMDA receptor encephalitis
def: "An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor." [NCIT:C94853]
subset: gard_rare {source="GARD:20513", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:217253"}
subset: orphanet_rare {source="Orphanet:217253"}
subset: rare
synonym: "anti-NMDA receptor encephalitis" EXACT [NCIT:C94853]
synonym: "limbic encephalitis with N-methyl-D-aspartate receptor antibodies" EXACT [Orphanet:217253]
synonym: "limbic encephalitis with NMDA receptor antibodies" EXACT [MONDO:0016317]
xref: GARD:20513 {source="MONDO:GARD"}
xref: ICD10CM:G13.1 {source="Orphanet:217253/ntbt", source="Orphanet:217253"}
xref: MEDGEN:458943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060426 {source="MONDO:equivalentTo"}
xref: NANDO:2201317 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C94853 {source="MONDO:equivalentTo"}
xref: Orphanet:217253 {source="MONDO:equivalentTo"}
xref: SCTID:716684004 {source="MONDO:equivalentTo"}
xref: UMLS:C2986717 {source="MONDO:equivalentTo", source="MEDGEN:458943", source="MONDO:MEDGEN"}
is_a: MONDO:0019956 {source="MESH:D060426", source="NCIT:C94853", source="NCIT:C94853/inferred"} ! encephalitis
is_a: MONDO:0100029 {source="https://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy
relationship: disease_has_basis_in_disruption_of GO:0004972 {source="MONDO:from-NCIT-text-def"} ! NMDA glutamate receptor activity
relationship: excluded_subClassOf MONDO:0015589 {source="Orphanet:217253", source="https://orcid.org/0000-0001-5208-3432"} ! paraneoplastic limbic encephalitis
relationship: excluded_subClassOf MONDO:0019385 {source="NCIT:C94853", source="https://orcid.org/0000-0001-5208-3432"} ! steroid-responsive encephalopathy associated with autoimmune thyroiditis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5765" xsd:anyURI

[Term]
id: MONDO:0021082
name: Meckel diverticulum neoplasm
def: "A neoplasm involving a Meckel's diverticulum." [MONDO:patterns/neoplasm]
synonym: "Meckel's diverticulum neoplasm" EXACT []
synonym: "Meckel's diverticulum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Meckel's diverticulum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Meckel's diverticulum tumour" EXACT OMO:0003005 []
synonym: "neoplasm of Meckel's diverticulum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of Meckel's diverticulum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of Meckel's diverticulum" EXACT OMO:0003005 []
xref: MEDGEN:577167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:126836001 {source="MONDO:equivalentTo"}
xref: UMLS:C0345839 {source="MEDGEN:577167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004251 {source="MONDO:Redundant"} ! small intestine neoplasm
is_a: MONDO:0006801 {source="MONDO:Redundant"} ! ileal neoplasm
is_a: MONDO:0021118 {source="MONDO:Redundant"} ! intestinal neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003705 ! Meckel's diverticulum

[Term]
id: MONDO:0021083
name: congenital fibrosis of extraocular muscles type 1
def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700]
synonym: "CFEOM1" EXACT ABBREVIATION [OMIM:135700]
synonym: "congenital fibrosis of extraocular muscles caused by mutation in KIF21A" EXACT [MONDO:design_pattern]
synonym: "Feom1 locus" RELATED [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, 1" EXACT [OMIM:135700]
synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [OMIM:135700]
synonym: "KIF21A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700]
xref: DOID:0081015 {source="MONDO:equivalentTo"}
xref: MEDGEN:376943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:135700 {source="MONDO:equivalentTo"}
xref: Orphanet:45358 {source="OMIM:135700"}
xref: UMLS:C1851102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376943"}
is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:135700", source="Orphanet:45358"} ! congenital fibrosis of extraocular muscles
intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19349 ! KIF21A
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19349 {source="MONDO:mim2gene_medgen"} ! KIF21A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0021084
name: vision disorder
def: "Any impairment to the vision." [NCIT:C35126]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of vision" EXACT []
synonym: "disorder of visual system" BROAD [NCIT:C35126]
synonym: "vision disorder" EXACT [NCIT:C35126]
synonym: "visual disorder" EXACT [NCIT:C35126]
synonym: "visual Field disorder" RELATED [NCIT:C35126]
synonym: "visual system disorder" BROAD [NCIT:C35126]
xref: ICD10CM:H53-H54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10047518
xref: MEDGEN:12103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014786 {source="MONDO:equivalentTo"}
xref: NCIT:C35126 {source="MONDO:equivalentTo"}
xref: SCTID:95677002 {source="MONDO:equivalentTo"}
xref: UMLS:C0042790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12103"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_disrupts GO:0007601 ! visual perception
relationship: disease_has_location UBERON:0002104 ! visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4614" xsd:anyURI

[Term]
id: MONDO:0021085
name: gastric neoplasm
def: "A benign or malignant neoplasm involving the stomach." [NCIT:C3387]
subset: otar {source="MONDO:OTAR"}
synonym: "gastric neoplasm" EXACT [NCIT:C3387]
synonym: "gastric tumor" EXACT [NCIT:C3387]
synonym: "gastric tumour" EXACT OMO:0003005 []
synonym: "neoplasm of stomach" EXACT [MONDO:patterns/neoplasm, NCIT:C3387]
synonym: "neoplasm of the stomach" EXACT [NCIT:C3387]
synonym: "stomach neoplasm" EXACT [NCIT:C3387]
synonym: "stomach neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "stomach tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3387]
synonym: "stomach tumour" EXACT OMO:0003005 []
synonym: "tumor of stomach" EXACT [MONDO:patterns/neoplasm, NCIT:C3387]
synonym: "tumor of the stomach" EXACT [NCIT:C3387]
synonym: "tumour of stomach" EXACT OMO:0003005 []
synonym: "tumour of the stomach" EXACT OMO:0003005 []
xref: EFO:0003897 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:20958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013274 {source="MONDO:equivalentTo"}
xref: NCIT:C3387 {source="MONDO:equivalentTo"}
xref: SCTID:126824007 {source="MONDO:equivalentTo"}
xref: UMLS:C0038356 {source="MEDGEN:20958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004298 {source="MESH:D013274", source="MONDO:Redundant", source="NCIT:C3387"} ! stomach disorder
is_a: MONDO:0005070 {source="MESH:D013274/inferred", source="MONDO:Redundant", source="NCIT:C3387/inferred"} ! neoplasm
is_a: MONDO:0021223 {source="MESH:D013274", source="MONDO:Redundant", source="NCIT:C3387"} ! digestive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0021086
name: gingival neoplasm
def: "A benign or malignant neoplasm that affects the upper or lower gingiva." [NCIT:C3057]
subset: otar {source="MONDO:OTAR"}
synonym: "gingiva neoplasm" EXACT []
synonym: "gingiva neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "gingiva tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "gingiva tumour" EXACT OMO:0003005 []
synonym: "gingival neoplasm" EXACT [NCIT:C3057]
synonym: "gingival tumor" EXACT [NCIT:C3057]
synonym: "gingival tumour" EXACT OMO:0003005 []
synonym: "gum neoplasm" EXACT [NCIT:C3057]
synonym: "gum tumor" EXACT [NCIT:C3057]
synonym: "gum tumour" EXACT OMO:0003005 []
synonym: "neoplasm of gingiva" EXACT [MONDO:patterns/neoplasm, NCIT:C3057]
synonym: "neoplasm of gum" EXACT [NCIT:C3057]
synonym: "neoplasm of the gingiva" EXACT [NCIT:C3057]
synonym: "neoplasm of the gum" EXACT [NCIT:C3057]
synonym: "tumor of gingiva" EXACT [MONDO:patterns/neoplasm, NCIT:C3057]
synonym: "tumor of gum" EXACT [NCIT:C3057]
synonym: "tumor of the gingiva" EXACT [NCIT:C3057]
synonym: "tumor of the gum" EXACT [NCIT:C3057]
synonym: "tumour of gingiva" EXACT OMO:0003005 []
synonym: "tumour of gum" EXACT OMO:0003005 []
synonym: "tumour of the gingiva" EXACT OMO:0003005 []
synonym: "tumour of the gum" EXACT OMO:0003005 []
xref: MEDGEN:6605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3057 {source="MONDO:equivalentTo"}
xref: SCTID:126792007 {source="MONDO:equivalentTo"}
xref: UMLS:C0017570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6605"}
is_a: MONDO:0002021 {source="MONDO:Redundant"} ! gingival disorder
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3057/inferred"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001828 ! gingiva

[Term]
id: MONDO:0021087
name: obsolete malignant granular cell myoblastoma
is_obsolete: true
replaced_by: MONDO:0003252

[Term]
id: MONDO:0021088
name: papillary meningioma
def: "A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." [NCIT:C3904]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "papillary meningioma" EXACT [NCIT:C3904]
xref: ICDO:9538/3 {source="NCIT:C3904"}
xref: MEDGEN:463642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3904 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PPM {source="MONDO:equivalentTo"}
xref: UMLS:C3163622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463642"}
is_a: MONDO:0016642 {source="NCIT:C3904", source="NCIT:C3904/inferred"} ! meningioma

[Term]
id: MONDO:0021089
name: peripheral nervous system cancer
def: "Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location" [NCIT:C4961]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of peripheral nervous system" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant neoplasm of peripheral nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4961]
synonym: "malignant neoplasm of PNS" EXACT [NCIT:C4961]
synonym: "malignant neoplasm of the peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant neoplasm of the peripheral nervous system" EXACT [NCIT:C4961]
synonym: "malignant neoplasm of the PNS" EXACT [NCIT:C4961]
synonym: "malignant neoplasms, peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant peripheral nerve neoplasm" EXACT [NCIT:C4961]
synonym: "malignant peripheral nerve tumor" EXACT [NCIT:C4961]
synonym: "malignant peripheral nerve tumour" EXACT OMO:0003005 []
synonym: "malignant peripheral nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4961]
synonym: "malignant peripheral nervous system tumor" EXACT [NCIT:C4961]
synonym: "malignant peripheral nervous system tumour" EXACT OMO:0003005 []
synonym: "malignant PNS neoplasm" EXACT [NCIT:C4961]
synonym: "malignant PNS tumor" EXACT [NCIT:C4961]
synonym: "malignant PNS tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant tumor of peripheral nervous system" EXACT [NCIT:C4961]
synonym: "malignant tumor of PNS" EXACT [NCIT:C4961]
synonym: "malignant tumor of the peripheral nerve" EXACT [NCIT:C4961]
synonym: "malignant tumor of the peripheral nervous system" EXACT [NCIT:C4961]
synonym: "malignant tumor of the PNS" EXACT [NCIT:C4961]
synonym: "malignant tumour of peripheral nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of peripheral nervous system" EXACT OMO:0003005 []
synonym: "malignant tumour of PNS" EXACT OMO:0003005 []
synonym: "malignant tumour of the peripheral nerve" EXACT OMO:0003005 []
synonym: "malignant tumour of the peripheral nervous system" EXACT OMO:0003005 []
synonym: "malignant tumour of the PNS" EXACT OMO:0003005 []
synonym: "peripheral nervous system cancer" EXACT [MONDO:patterns/location]
synonym: "peripheral nervous system neoplasms, malignant" EXACT [NCIT:C4961]
xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:155556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4961 {source="MONDO:equivalentTo"}
xref: SCTID:254986007 {source="MONDO:equivalentTo"}
xref: UMLS:C0751428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155556"}
is_a: MONDO:0001406 {source="MONDO:Redundant", source="NCIT:C4961"} ! peripheral nervous system neoplasm
is_a: MONDO:0005872 {source="MONDO:Redundant", source="NCIT:C4961"} ! nervous system cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system

[Term]
id: MONDO:0021090
name: lipid-rich breast carcinoma
def: "An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells." [NCIT:C40365]
synonym: "breast lipid-rich carcinoma" EXACT [MONDO:patterns/location]
synonym: "lipid secreting breast carcinoma" RELATED [NCIT:C40365]
synonym: "lipid-rich breast carcinoma" EXACT [MONDO:0004097, NCIT:C40365]
xref: DOID:7076 {source="MONDO:equivalentTo"}
xref: MEDGEN:274685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40365 {source="MONDO:equivalentTo", source="DOID:7076", source="NCIT:C40365"}
xref: UMLS:C1517894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274685"}
is_a: MONDO:0003570 {source="DOID:7076", source="MONDO:Redundant", source="NCIT:C40365"} ! lipid-rich carcinoma
is_a: MONDO:0003982 {source="DOID:7076"} ! bilateral breast carcinoma
is_a: MONDO:0004989 {source="DOID:7076/inferred", source="MONDO:Redundant", source="NCIT:C40365/inferred"} ! breast carcinoma
intersection_of: MONDO:0003570 ! lipid-rich carcinoma
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0021091
name: papillary cystadenoma
def: "A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures." [NCIT:C2974]
subset: otar {source="MONDO:OTAR"}
synonym: "cystadenoma, papillary, benign" EXACT [NCIT:C2974]
synonym: "papillary cystadenoma" EXACT [NCIT:C2974]
xref: ICDO:8450/0 {source="NCIT:C2974"}
xref: MEDGEN:41386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018292 {source="MONDO:equivalentTo"}
xref: NCIT:C2974 {source="MONDO:equivalentTo"}
xref: UMLS:C0010636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41386"}
is_a: MONDO:0002369 {source="MESH:D018292", source="MONDO:Redundant", source="NCIT:C2974"} ! cystadenoma
is_a: MONDO:0006349 {source="MONDO:Redundant", source="NCIT:C2974"} ! papillary cystic neoplasm
intersection_of: MONDO:0002369 {source="NCIT:C2974"} ! cystadenoma
intersection_of: MONDO:0006349 {source="NCIT:C2974"} ! papillary cystic neoplasm

[Term]
id: MONDO:0021092
name: fallopian tube neoplasm
def: "A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma." [NCIT:C3032]
synonym: "fallopian tube neoplasm" EXACT [NCIT:C3032]
synonym: "fallopian tube neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "fallopian tube tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3032]
synonym: "fallopian tube tumour" EXACT OMO:0003005 []
synonym: "neoplasm of fallopian tube" EXACT [MONDO:patterns/neoplasm, NCIT:C3032]
synonym: "neoplasm of the fallopian tube" EXACT [NCIT:C3032]
synonym: "tumor of fallopian tube" EXACT [MONDO:patterns/neoplasm, NCIT:C3032]
synonym: "tumor of the fallopian tube" EXACT [NCIT:C3032]
synonym: "tumour of fallopian tube" EXACT OMO:0003005 []
synonym: "tumour of the fallopian tube" EXACT OMO:0003005 []
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005185 {source="MONDO:equivalentTo"}
xref: NCIT:C3032 {source="MONDO:equivalentTo"}
xref: SCTID:126916003 {source="MONDO:equivalentTo"}
xref: UMLS:C0015558 {source="MEDGEN:8775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002156 {source="MONDO:Redundant", source="NCIT:C3032"} ! fallopian tube disorder
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3032"} ! female reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0021093
name: cranioectodermal dysplasia 1
def: "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CED1" EXACT ABBREVIATION [OMIM:218330]
synonym: "cranioectodermal dysplasia 1" EXACT [MONDO:Lexical, OMIM:218330]
synonym: "cranioectodermal dysplasia caused by mutation in IFT122" EXACT [MONDO:design_pattern]
synonym: "cranioectodermal dysplasia type 1" EXACT [MONDORULE:1, OMIM:218330]
synonym: "IFT122 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Levin syndrome 1" RELATED [OMIM:218330]
synonym: "Sensenbrenner syndrome" BROAD [OMIM:218330]
xref: DOID:0080803 {source="MONDO:equivalentTo"}
xref: MEDGEN:96586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:218330 {source="MONDO:equivalentTo"}
xref: Orphanet:1515 {source="OMIM:218330"}
xref: UMLS:C0432235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96586"}
is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:218330"} ! cranioectodermal dysplasia
is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia
intersection_of: MONDO:0009032 ! cranioectodermal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13556 ! IFT122
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:218330"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13556 {source="MONDO:mim2gene_medgen"} ! IFT122
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0021094
name: immunodeficiency disease
def: "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." [NCIT:C3131-modified]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "immuno-deficiency" EXACT [NCIT:C3131]
synonym: "immunodeficiency" EXACT [NCIT:C3131]
synonym: "immunodeficiency disorder" EXACT [NCIT:C3131]
synonym: "immunodeficiency syndrome" RELATED [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18, NCIT:C3131]
xref: ICD9:279.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:7034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100204 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3131 {source="NCIT:C3131", source="MONDO:equivalentTo"}
xref: OMIMPS:300755 {source="MONDO:equivalentTo"}
xref: SCTID:234532001 {source="MONDO:equivalentTo"}
xref: UMLS:C0021051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7034"}
is_a: MONDO:0005046 {source="NCIT:C3131"} ! immune system disorder
relationship: disease_has_basis_in_disruption_of GO:0002376 ! immune system process
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C3131", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300755"} ! inherited

[Term]
id: MONDO:0021095
name: parkinsonian disorder
def: "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." [MESH:D020734]
comment: Editor note: TODO
subset: otar {source="MONDO:OTAR"}
xref: DOID:0080855 {source="MONDO:equivalentTo"}
xref: ICD10CM:G20-G26 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:66079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020734 {source="MONDO:equivalentTo"}
xref: UMLS:C0242422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66079"}
is_a: MONDO:0003996 {source="MESH:D020734"} ! basal ganglia disorder

[Term]
id: MONDO:0021096
name: papillary epithelial neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "papillary epithelial neoplasm" EXACT [NCIT:C8429]
xref: MEDGEN:235456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8429 {source="MONDO:equivalentTo"}
xref: UMLS:C1335324 {source="MONDO:equivalentTo", source="MEDGEN:235456", source="MONDO:MEDGEN"}
is_a: MONDO:0005626 {source="NCIT:C8429"} ! epithelial neoplasm

[Term]
id: MONDO:0021097
name: intraductal breast papilloma
def: "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." [NCIT:C3863]
synonym: "breast duct papilloma" RELATED [DOID:1626]
synonym: "breast papilloma" EXACT [NCIT:C3863]
synonym: "duct papilloma of breast" EXACT [DOID:1626, NCIT:C3863]
synonym: "duct papilloma of the breast" EXACT [NCIT:C3863]
synonym: "ductal breast papilloma" EXACT [NCIT:C3863]
synonym: "intraductal breast papilloma" EXACT [NCIT:C3863]
synonym: "intraductal papilloma of breast" EXACT [NCIT:C3863]
synonym: "intraductal papilloma of the breast" EXACT [NCIT:C3863]
synonym: "mammary duct papilloma" EXACT [MONDO:patterns/location]
synonym: "papilloma of breast" EXACT [NCIT:C3863]
synonym: "papilloma of the breast" EXACT [DOID:1626, NCIT:C3863]
xref: DOID:1626 {source="MONDO:equivalentTo"}
xref: MEDGEN:65944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3863 {source="MONDO:equivalentTo", source="DOID:1626"}
xref: SCTID:254848002 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:1626"}
xref: SCTID:99571000119102 {source="MONDO:equivalentTo"}
xref: UMLS:C0238034 {source="MEDGEN:65944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000620 {source="DOID:1626/inferred", source="MONDO:Redundant"} ! breast benign neoplasm
is_a: MONDO:0002060 {source="MONDO:Redundant", source="NCIT:C3863"} ! intraductal papilloma
is_a: MONDO:0002061 {source="DOID:1626", source="NCIT:C3863"} ! intraductal papillary breast neoplasm
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_has_location UBERON:0001765 ! mammary duct

[Term]
id: MONDO:0021098
name: papillomatosis
def: "Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site." [NCIT:C3713]
synonym: "papillomatosis" EXACT [NCIT:C3713]
xref: MEDGEN:64459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3713 {source="MONDO:equivalentTo"}
xref: UMLS:C0205875 {source="MEDGEN:64459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021096 {source="NCIT:C3713"} ! papillary epithelial neoplasm

[Term]
id: MONDO:0021099
name: intraductal papillomatosis
def: "A neoplastic process characterized by the presence of multiple intraductal papillomas." [NCIT:C7363]
synonym: "duct papillomatosis" EXACT [MONDO:patterns/location]
synonym: "intraductal papillomatosis" EXACT [NCIT:C7363]
xref: ICDO:8505/0 {source="NCIT:C7363"}
xref: MEDGEN:90774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7363 {source="MONDO:equivalentTo"}
xref: UMLS:C0334377 {source="MONDO:equivalentTo", source="MEDGEN:90774", source="MONDO:MEDGEN"}
is_a: MONDO:0021098 {source="MONDO:Redundant", source="NCIT:C7363"} ! papillomatosis
intersection_of: MONDO:0021098 {source="NCIT:C7363"} ! papillomatosis
intersection_of: disease_has_location UBERON:0000058 {source="NCIT:C7363"} ! duct
relationship: disease_has_feature MONDO:0002060 ! intraductal papilloma

[Term]
id: MONDO:0021100
name: breast neoplasm
def: "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males." [NCIT:C2910]
subset: otar {source="MONDO:OTAR"}
synonym: "breast neoplasm" EXACT [NCIT:C2910]
synonym: "breast neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "breast tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2910]
synonym: "breast tumour" EXACT OMO:0003005 []
synonym: "neoplasm of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910]
synonym: "neoplasm of the breast" EXACT [NCIT:C2910]
synonym: "neoplasm, breast" EXACT [NCIT:C2910]
synonym: "tumor of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910]
synonym: "tumor of the breast" EXACT [NCIT:C2910]
synonym: "tumour of breast" EXACT OMO:0003005 []
synonym: "tumour of the breast" EXACT OMO:0003005 []
xref: EFO:0003869 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C50-C50 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:239.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:264172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001943 {source="MONDO:equivalentTo"}
xref: NCIT:C12971 {source="ONCOTREE:BREAST"}
xref: NCIT:C2910 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BREAST {source="MONDO:equivalentTo"}
xref: SCTID:126926005 {source="MONDO:equivalentTo"}
xref: UMLS:C1458155 {source="MEDGEN:264172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002657 {source="MESH:D001943", source="MONDO:Redundant", source="NCIT:C2910"} ! breast disorder
is_a: MONDO:0005070 {source="MESH:D001943/inferred", source="MONDO:Redundant", source="NCIT:C2910/inferred"} ! neoplasm
is_a: MONDO:0021350 {source="MONDO:Redundant"} ! neoplasm of thorax
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000310 ! breast

[Term]
id: MONDO:0021101
name: appendix L-cell glucagon-like peptide-producing neuroendocrine tumor
def: "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27445]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "appendiceal L-cell glucagon-like peptide producing tumor" RELATED [DOID:8151]
synonym: "appendiceal L-cell glucagon-like peptide producing tumour" RELATED OMO:0003005 []
synonym: "appendiceal L-cell glucagon-like peptide-producing NET" RELATED [NCIT:C27445]
synonym: "appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor" RELATED [NCIT:C27445]
synonym: "appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumour" RELATED OMO:0003005 []
synonym: "appendix L-cell glucagon-like peptide-producing NET" RELATED [NCIT:C27445]
synonym: "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27445]
synonym: "appendix L-cell NET" RELATED [NCIT:C27445]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix" EXACT [MONDO:design_pattern]
synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumour of vermiform appendix" EXACT OMO:0003005 []
synonym: "malignant appendiceal glucagonoma" EXACT [DOID:8151]
synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT [DOID:8151]
synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumour" EXACT OMO:0003005 []
synonym: "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 []
xref: DOID:8151 {source="MONDO:equivalentTo"}
xref: MEDGEN:475771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27445 {source="MONDO:equivalentTo", source="DOID:8151"}
xref: UMLS:C3274138 {source="MEDGEN:475771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004211 {source="NCIT:C27445"} ! L-cell glucagon-like peptide-producing neuroendocrine tumor
is_a: MONDO:0015066 {source="MONDO:Redundant", source="NCIT:C27445"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade
intersection_of: MONDO:0004211 ! L-cell glucagon-like peptide-producing neuroendocrine tumor
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0021102
name: prostate phyllodes tumor
def: "An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma." [NCIT:C7574]
subset: gard_rare {source="GARD:9404", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498228"}
subset: orphanet_rare {source="Orphanet:498228"}
subset: rare
synonym: "cystosarcoma phyllodes of prostate" EXACT [NCIT:C7574]
synonym: "cystosarcoma phyllodes of the prostate" EXACT [NCIT:C7574, Orphanet:498228]
synonym: "malignant phyllodes tumor of prostate (subtype)" RELATED [GARD:0009404]
synonym: "malignant phyllodes tumour of prostate (subtype)" RELATED OMO:0003005 []
synonym: "phyllodes neoplasm of prostate" EXACT [NCIT:C7574]
synonym: "phyllodes neoplasm of the prostate" EXACT [NCIT:C7574]
synonym: "phyllodes tumor of prostate" EXACT [NCIT:C7574]
synonym: "phyllodes tumor of the prostate" EXACT [NCIT:C7574]
synonym: "phyllodes tumour of prostate" EXACT OMO:0003005 []
synonym: "phyllodes tumour of the prostate" EXACT OMO:0003005 []
synonym: "prostate cystosarcoma phyllodes" EXACT [NCIT:C7574]
synonym: "prostate gland phyllodes tumor" EXACT [MONDO:patterns/location]
synonym: "prostate gland phyllodes tumour" EXACT OMO:0003005 []
synonym: "prostate phyllodes neoplasm" EXACT [NCIT:C7574]
synonym: "prostate phyllodes tumor" EXACT [NCIT:C7574]
xref: GARD:9404 {source="MONDO:GARD"}
xref: MEDGEN:233326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7574 {source="MONDO:equivalentTo"}
xref: Orphanet:498228 {source="MONDO:equivalentTo"}
xref: UMLS:C1335409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233326"}
is_a: MONDO:0003105 {source="MONDO:Redundant", source="NCIT:C7574/inferred"} ! prostate disorder
is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C7574"} ! phyllodes tumor
is_a: MONDO:0021066 {source="Orphanet:498228"} ! urinary system neoplasm
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C7574"} ! prostate neoplasm
intersection_of: MONDO:0005078 {source="NCIT:C7574"} ! phyllodes tumor
intersection_of: disease_has_location UBERON:0002367 {source="NCIT:C7574"} ! prostate gland
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020032"} ! rare

[Term]
id: MONDO:0021103
name: obsolete collagen diseases
def: "OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)" [MESH:D003095]
synonym: "collagen disease" EXACT [MESH:D003095]
synonym: "collagen disorder" EXACT [DOID:854]
synonym: "disease, collagen" EXACT [MESH:D003095]
synonym: "diseases, collagen" EXACT [MESH:D003095]
xref: DOID:854 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:710.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:710.9 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"}
xref: MESH:D003095 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:81573002 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0003900
consider: MONDO:0005554

[Term]
id: MONDO:0021104
name: alcoholic fatty liver disease
def: "Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated." [MESH:D005235]
synonym: "alcoholic fatty liver" EXACT [MESH:D005235]
synonym: "alcoholic Steatohepatitis" EXACT [MESH:D005235]
xref: ICD9:571.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005235 {source="MONDO:equivalentTo"}
xref: SCTID:50325005 {source="MONDO:equivalentTo"}
xref: UMLS:C0015696 {source="MEDGEN:4666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004790 {source="MESH:D005235", source="MONDO:Redundant"} ! fatty liver disease
intersection_of: MONDO:0004790 ! fatty liver disease
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0021105
name: NAFLD1
subset: predisposition
synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1" EXACT [OMIM:613282]
synonym: "liver disease, alcoholic, susceptibility to, 1" EXACT [OMIM:613282]
synonym: "NAFLD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613282]
xref: MEDGEN:413307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613282 {source="MONDO:equivalentTo"}
xref: UMLS:C2750440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413307"}
is_a: MONDO:0013209 {source="DC-OMIM:613282"} ! metabolic dysfunction-associated steatotic liver disease

[Term]
id: MONDO:0021106
name: laminopathy
def: "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina." [Wikipedia:Laminopathy]
subset: disease_grouping
subset: gard_rare {source="GARD:19444", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98301"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19444 {source="MONDO:GARD"}
xref: MEDGEN:1716073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000083083 {source="MONDO:equivalentTo"}
xref: Orphanet:98301 {source="MONDO:equivalentTo"}
xref: UMLS:C5392094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716073"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005652 ! nuclear lamina

[Term]
id: MONDO:0021107
name: narcolepsy
def: "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day." [NCIT:C84489]
subset: gard_rare {source="GARD:22460", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:619284"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "narcolepsy with or without cataplexy" EXACT [Orphanet:619284]
synonym: "narcolepsy, without cataplexy" NARROW [DOID:8986]
synonym: "paroxysmal sleep" EXACT [DOID:8986]
xref: DOID:8986 {source="MONDO:equivalentTo"}
xref: GARD:22460 {source="MONDO:GARD"}
xref: MEDGEN:45001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009290 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"}
xref: NCIT:C84489 {source="MONDO:equivalentTo"}
xref: Orphanet:619284 {source="MONDO:equivalentTo"}
xref: SCTID:60380001 {source="MONDO:equivalentTo"}
xref: UMLS:C0027404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45001"}
is_a: MONDO:0003406 {source="https://orcid.org/0000-0001-5208-3432"} ! sleep-wake disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI

[Term]
id: MONDO:0021108
name: meningitis
def: "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord." [NCIT:C26828]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of meninx" EXACT []
synonym: "meningitis" EXACT [NCIT:C26828]
synonym: "meningitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "meninx inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: ICD9:322.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:6298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008581 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C26828 {source="MONDO:equivalentTo"}
xref: SCTID:7180009 {source="MONDO:equivalentTo"}
xref: UMLS:C0025289 {source="MEDGEN:6298", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002602 {source="MONDO:Redundant", source="NCIT:C26828/inferred"} ! central nervous system disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002360 ! meninx
union_of: MONDO:0006662 ! aseptic meningitis
union_of: MONDO:0006670 ! bacterial meningitis
relationship: disease_has_location UBERON:0002360 {source="EFO:0000784"} ! meninx
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000589 "meningitis (disease)" xsd:string

[Term]
id: MONDO:0021109
name: inverted urothelial papilloma
def: "An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas." [NCIT:C6192]
subset: otar {source="MONDO:OTAR"}
synonym: "inverted papilloma of urinary tract" EXACT [NCIT:C6192]
synonym: "inverted urothelial papilloma" EXACT [NCIT:C6192]
synonym: "IUP" RELATED ABBREVIATION [ONCOTREE:IUP]
synonym: "urinary tract inverted papilloma" EXACT [NCIT:C6192]
synonym: "urothelium inverted papilloma" EXACT [MONDO:patterns/location]
xref: MEDGEN:233583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6192 {source="MONDO:equivalentTo"}
xref: ONCOTREE:IUP {source="MONDO:equivalentTo"}
xref: UMLS:C1334282 {source="MEDGEN:233583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002537 {source="MONDO:Entailed", source="NCIT:C6192/inferred"} ! inverted papilloma
is_a: MONDO:0003443 {source="MONDO:Redundant", source="NCIT:C6192/inferred"} ! papillary urothelial neoplasm
is_a: MONDO:0004041 {source="NCIT:C6192"} ! urothelial papilloma
intersection_of: MONDO:0002537 ! inverted papilloma
intersection_of: disease_has_location UBERON:0000365 ! urothelium

[Term]
id: MONDO:0021110
name: sweat gland adenoma
def: "A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma." [NCIT:C7560]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of sweat gland" EXACT [NCIT:C7560]
synonym: "adenoma of the sweat gland" EXACT [NCIT:C7560]
synonym: "adenoma, sweat gland, benign" EXACT [NCIT:C7560]
synonym: "sweat gland adenoma" EXACT [MONDO:patterns/location, NCIT:C7560]
xref: ICDO:8400/0 {source="NCIT:C7560"}
xref: MEDGEN:5551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7560 {source="MONDO:equivalentTo"}
xref: UMLS:C0019522 {source="MEDGEN:5551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002381 {source="MONDO:Redundant", source="NCIT:C7560/inferred"} ! sweat gland neoplasm
is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C7560/inferred"} ! adenoma
is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C7560/inferred"} ! epithelial skin neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0001820 ! sweat gland

[Term]
id: MONDO:0021111
name: ureter neoplasm
def: "A benign or malignant neoplasm that affects the ureter." [NCIT:C3427]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the ureter" EXACT [NCIT:C3427]
synonym: "neoplasm of ureter" EXACT [MONDO:patterns/neoplasm, NCIT:C3427]
synonym: "neoplasms of the ureter" EXACT [NCIT:C3427]
synonym: "neoplasms of ureter" EXACT [NCIT:C3427]
synonym: "tumor of the ureter" EXACT [NCIT:C3427]
synonym: "tumor of ureter" EXACT [MONDO:patterns/neoplasm, NCIT:C3427]
synonym: "tumour of the ureter" EXACT OMO:0003005 []
synonym: "tumour of ureter" EXACT OMO:0003005 []
synonym: "ureter neoplasm" EXACT [NCIT:C3427]
synonym: "ureter neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ureter tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3427]
synonym: "ureter tumour" EXACT OMO:0003005 []
synonym: "ureteral neoplasm" EXACT [NCIT:C3427]
synonym: "ureteral tumor" EXACT [NCIT:C3427]
synonym: "ureteral tumour" EXACT OMO:0003005 []
xref: EFO:0003844 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:12011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3427 {source="MONDO:equivalentTo"}
xref: SCTID:126882009 {source="MONDO:equivalentTo"}
xref: UMLS:C0041955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12011"}
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3427/inferred"} ! urinary system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0021112
name: scrotum cancer
def: "A primary or metastatic malignant neoplasm affecting the scrotum." [NCIT:C3560]
synonym: "cancer of scrotum" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of scrotum" EXACT [MONDO:patterns/cancer, NCIT:C3560]
synonym: "malignant neoplasm of the scrotum" EXACT [NCIT:C3560]
synonym: "malignant scrotal neoplasm" EXACT [NCIT:C3560]
synonym: "malignant scrotal tumor" EXACT [NCIT:C3560]
synonym: "malignant scrotal tumour" EXACT OMO:0003005 []
synonym: "malignant scrotum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant tumor of scrotum" EXACT [NCIT:C3560]
synonym: "malignant tumor of the scrotum" EXACT [NCIT:C3560]
synonym: "malignant tumour of scrotum" EXACT OMO:0003005 []
synonym: "malignant tumour of the scrotum" EXACT OMO:0003005 []
synonym: "scrotum cancer" EXACT [MONDO:patterns/location]
xref: ICD9:187.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3560 {source="MONDO:equivalentTo"}
xref: SCTID:363454002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57564"}
is_a: MONDO:0003319 {source="MONDO:Redundant", source="NCIT:C3560"} ! scrotum neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0021113
name: respiratory failure
def: "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function." [NCIT:C26872]
subset: otar {source="MONDO:OTAR"}
synonym: "acute and chronic respiratory failure" RELATED [DOID:11162, ICD9CM:518.84]
synonym: "acute respiratory failure" NARROW [DOID:11162, NCIT:C27043]
synonym: "acute-on-chronic respiratory failure" RELATED [DOID:11162]
synonym: "chronic respiratory failure" NARROW [DOID:11162]
synonym: "failure, respiratory" EXACT [NCIT:C26872]
synonym: "respiratory failure" EXACT [NCIT:C26872]
synonym: "respiratory insufficiency/failure" EXACT [DOID:11162]
xref: DOID:11162 {source="MONDO:equivalentTo"}
xref: EFO:0009686 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:J96.0 {source="DOID:11162"}
xref: ICD9:518.81 {source="DOID:11162"}
xref: ICD9:518.83 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:257837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012131 {source="MONDO:equivalentTo"}
xref: NCIT:C26872 {source="MONDO:equivalentTo"}
xref: NCIT:C27043 {source="DOID:11162"}
xref: SCTID:39871006 {source="MONDO:equivalentTo"}
xref: SCTID:65710008 {source="DOID:11162"}
xref: UMLS:C1145670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:257837"}
is_a: MONDO:0005275 {source="DOID:11162", source="MONDO:Entailed", source="NCIT:C26872/inferred"} ! lung disorder
relationship: disease_disrupts GO:0007585 ! respiratory gaseous exchange by respiratory system
relationship: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0021114
name: Bartholin gland neoplasm
def: "A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." [NCIT:C6434]
synonym: "Bartholin gland neoplasm" EXACT [NCIT:C6434]
synonym: "Bartholin's gland neoplasm" EXACT [NCIT:C6434]
synonym: "Bartholin's gland tumor" EXACT [NCIT:C6434]
synonym: "Bartholin's gland tumour" EXACT OMO:0003005 []
synonym: "major vestibular gland neoplasm" EXACT []
synonym: "major vestibular gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "major vestibular gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "major vestibular gland tumour" EXACT OMO:0003005 []
synonym: "neoplasm of Bartholin's gland" EXACT [NCIT:C6434]
synonym: "neoplasm of major vestibular gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Bartholin's gland" EXACT [NCIT:C6434]
synonym: "tumor of Bartholin's gland" EXACT [NCIT:C6434]
synonym: "tumor of major vestibular gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Bartholin's gland" EXACT [NCIT:C6434]
synonym: "tumour of Bartholin's gland" EXACT OMO:0003005 []
synonym: "tumour of major vestibular gland" EXACT OMO:0003005 []
synonym: "tumour of the Bartholin's gland" EXACT OMO:0003005 []
xref: MEDGEN:65074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6434 {source="MONDO:equivalentTo"}
xref: UMLS:C0220616 {source="MEDGEN:65074", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C6434"} ! vulvar neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland

[Term]
id: MONDO:0021115
name: luminal B breast carcinoma
def: "A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype." [NCIT:C53555]
subset: otar {source="MONDO:OTAR"}
synonym: "Luminal B" EXACT [NCIT:C53555]
synonym: "Luminal B breast cancer" EXACT [NCIT:C53555]
synonym: "Luminal B breast carcinoma" EXACT [NCIT:C53555]
synonym: "Luminal B estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53555]
synonym: "Luminal B oestrogen receptor positive subtype of breast carcinoma" EXACT OMO:0003005 []
synonym: "Luminal B subtype of breast carcinoma" EXACT [NCIT:C53555]
xref: DOID:0080674 {source="MONDO:equivalentTo"}
xref: MEDGEN:770986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53555 {source="MONDO:equivalentTo"}
xref: UMLS:C3642346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:770986"}
is_a: MONDO:0004990 ! breast tumor luminal A or B
is_a: MONDO:0006116 {source="MONDO:Redundant", source="NCIT:C53555"} ! breast carcinoma by gene expression profile

[Term]
id: MONDO:0021116
name: luminal A breast carcinoma
def: "A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis." [NCIT:C53554]
subset: otar {source="MONDO:OTAR"}
synonym: "Luminal A" EXACT [NCIT:C53554]
synonym: "Luminal A breast cancer" EXACT [NCIT:C53554]
synonym: "Luminal A breast carcinoma" EXACT [NCIT:C53554]
synonym: "Luminal A estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53554]
synonym: "Luminal A oestrogen receptor positive subtype of breast carcinoma" EXACT OMO:0003005 []
synonym: "Luminal A subtype of breast carcinoma" EXACT [NCIT:C53554]
xref: MEDGEN:770985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53554 {source="MONDO:equivalentTo"}
xref: UMLS:C3642345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:770985"}
is_a: MONDO:0004990 ! breast tumor luminal A or B
is_a: MONDO:0006116 {source="MONDO:Redundant", source="NCIT:C53554"} ! breast carcinoma by gene expression profile

[Term]
id: MONDO:0021117
name: lung neoplasm
def: "A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma." [NCIT:C3200]
subset: otar {source="MONDO:OTAR"}
synonym: "lung" RELATED [ONCOTREE:LUNG]
synonym: "lung neoplasm" EXACT [NCIT:C3200]
synonym: "lung neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lung neoplasms" EXACT [NCIT:C3200]
synonym: "lung tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3200]
synonym: "lung tumour" EXACT OMO:0003005 []
synonym: "neoplasm of lung" EXACT [MONDO:patterns/neoplasm, NCIT:C3200]
synonym: "neoplasm of the lung" EXACT [NCIT:C3200]
synonym: "neoplasm, lung" RELATED [MESH:D008175]
synonym: "neoplasm, pulmonary" RELATED [MESH:D008175]
synonym: "neoplasms, lung" RELATED [MESH:D008175]
synonym: "neoplasms, pulmonary" RELATED [MESH:D008175]
synonym: "tumor of lung" EXACT [MONDO:patterns/neoplasm, NCIT:C3200]
synonym: "tumor of the lung" EXACT [NCIT:C3200]
synonym: "tumour of lung" EXACT OMO:0003005 []
synonym: "tumour of the lung" EXACT OMO:0003005 []
xref: MEDGEN:7400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008175 {source="MONDO:equivalentTo"}
xref: NCIT:C12468 {source="ONCOTREE:LUNG"}
xref: NCIT:C3200 {source="MONDO:equivalentTo"}
xref: ONCOTREE:LUNG {source="MONDO:equivalentTo"}
xref: UMLS:C0024121 {source="MEDGEN:7400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MESH:D008175/inferred", source="MONDO:Redundant", source="NCIT:C3200/inferred"} ! neoplasm
is_a: MONDO:0005275 {source="MESH:D008175", source="MONDO:Redundant", source="NCIT:C3200"} ! lung disorder
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3200"} ! neoplasm of thorax
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0021118
name: intestinal neoplasm
def: "A benign or malignant neoplasm involving the small or large intestine." [NCIT:C3141]
subset: otar {source="MONDO:OTAR"}
synonym: "bowel neoplasm" RELATED [ONCOTREE:BOWEL]
synonym: "intestinal benign neoplasm" RELATED [DOID:4610]
synonym: "intestinal neoplasm" EXACT [NCIT:C3141]
synonym: "intestinal neoplasms" EXACT [NCIT:C3141]
synonym: "intestinal tumor" EXACT [NCIT:C3141]
synonym: "intestinal tumors" EXACT [DOID:4610, NCIT:C3141]
synonym: "intestinal tumour" EXACT OMO:0003005 []
synonym: "intestinal tumours" EXACT OMO:0003005 []
synonym: "intestine growth" EXACT [DOID:4610]
synonym: "intestine neoplasm" EXACT []
synonym: "intestine neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "intestine tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "intestine tumour" EXACT OMO:0003005 []
synonym: "neoplasm of intestinal tract" EXACT [DOID:4610]
synonym: "neoplasm of intestine" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of intestines" EXACT [NCIT:C3141]
synonym: "neoplasm of the intestines" EXACT [NCIT:C3141]
synonym: "tumor of intestine" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of intestines" EXACT [NCIT:C3141]
synonym: "tumor of the intestines" EXACT [NCIT:C3141]
synonym: "tumour of intestine" EXACT OMO:0003005 []
synonym: "tumour of intestines" EXACT OMO:0003005 []
synonym: "tumour of the intestines" EXACT OMO:0003005 []
xref: DOID:4610 {source="MONDO:equivalentTo"}
xref: MEDGEN:43932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007414 {source="DOID:4610"}
xref: NCIT:C12736 {source="ONCOTREE:BOWEL"}
xref: NCIT:C3141 {source="DOID:4610", source="MONDO:equivalentTo"}
xref: ONCOTREE:BOWEL {source="MONDO:equivalentTo"}
xref: SCTID:126769007 {source="DOID:4610", source="MONDO:equivalentTo"}
xref: UMLS:C0021841 {source="MEDGEN:43932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="DOID:4610", source="MONDO:Redundant", source="NCIT:C3141"} ! intestinal disorder
is_a: MONDO:0005070 {source="DOID:4610/inferred", source="MONDO:Redundant", source="NCIT:C3141/inferred"} ! neoplasm
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C3141"} ! digestive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0021119
name: non-functioning endocrine neoplasm
def: "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." [NCIT:C94760]
synonym: "endocrine-inactive tumor" EXACT [NCIT:C94760]
synonym: "endocrine-inactive tumour" EXACT OMO:0003005 []
synonym: "non-functioning endocrine neoplasm" EXACT [NCIT:C94760]
synonym: "nonfunctional Endocrine neoplasm" EXACT [NCIT:C94760]
synonym: "nonfunctioning tumor" EXACT [NCIT:C94760]
synonym: "nonfunctioning tumour" EXACT OMO:0003005 []
xref: MEDGEN:458882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C94760 {source="MONDO:equivalentTo"}
xref: UMLS:C2986656 {source="MEDGEN:458882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C94760"} ! endocrine gland neoplasm
intersection_of: MONDO:0002082 ! endocrine gland neoplasm
intersection_of: disease_has_feature NCIT:C45980 ! Absence of a Hormonal Syndrome
intersection_of: realized_in GO:0046879 ! hormone secretion

[Term]
id: MONDO:0021120
name: functioning endocrine neoplasm
def: "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." [NCIT:C94759]
synonym: "functioning endocrine neoplasm" EXACT [NCIT:C94759]
synonym: "functioning tumor" EXACT [NCIT:C94759]
synonym: "functioning tumour" EXACT OMO:0003005 []
xref: ICDO:8158/1 {source="NCIT:C94759"}
xref: MEDGEN:458881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C94759 {source="MONDO:equivalentTo"}
xref: UMLS:C2986655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:458881"}
is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C94759"} ! endocrine gland neoplasm
intersection_of: MONDO:0002082 ! endocrine gland neoplasm
intersection_of: disease_has_feature NCIT:C45981 ! Presence of a Hormonal Syndrome
intersection_of: realized_in GO:0046879 ! hormone secretion

[Term]
id: MONDO:0021121
name: hemangioendothelioma
def: "A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics." [NCIT:C3084]
subset: otar {source="MONDO:OTAR"}
synonym: "angioendothelioma" EXACT [NCIT:C3084]
synonym: "hemangioendothelioma" EXACT [NCIT:C3084]
xref: ICDO:9130/1 {source="NCIT:C3084"}
xref: MEDGEN:42384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006390 {source="MONDO:equivalentTo"}
xref: NCIT:C3084 {source="MONDO:equivalentTo"}
xref: SCTID:403980002 {source="MONDO:equivalentTo"}
xref: UMLS:C0018915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42384"}
is_a: MONDO:0021080 {source="NCIT:C3084"} ! blood vessel neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma" xsd:anyURI {source="GARD:0006557"}

[Term]
id: MONDO:0021122
name: obsolete small cell neuroendocrine carcinoma
xref: DOID:0050875 {source="MONDO:obsolete"}
is_obsolete: true
replaced_by: MONDO:0000402

[Term]
id: MONDO:0021123
name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
def: "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C35871]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location]
synonym: "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 []
synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C35871]
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C35871]
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour of bone" EXACT OMO:0003005 []
xref: MEDGEN:272598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35871 {source="MONDO:equivalentTo"}
xref: UMLS:C1333481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272598"}
is_a: MONDO:0021038 {source="MONDO:Redundant", source="NCIT:C35871"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
intersection_of: MONDO:0021038 ! Ewing sarcoma/peripheral primitive neuroectodermal tumor
intersection_of: disease_has_location UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0021124
name: female infertility
def: "Diminished or absent ability of a female to achieve conception." [MESH:D007247]
subset: otar {source="MONDO:OTAR"}
synonym: "female infertility" EXACT [MESH:D007247]
synonym: "female reproductive system infertility" EXACT [MONDO:patterns/location]
synonym: "female reproductive system infertility disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "female sterility" RELATED [MESH:D007247]
synonym: "female sub-fertility" RELATED [MESH:D007247]
synonym: "female subfertility" RELATED [MESH:D007247]
synonym: "infertility disorder of female reproductive system" EXACT [MONDO:design_pattern]
synonym: "postpartum sterility" RELATED [MESH:D007247]
synonym: "sterility, female" RELATED [MESH:D007247]
synonym: "sterility, postpartum" RELATED [MESH:D007247]
synonym: "sub fertility, female" RELATED [MESH:D007247]
synonym: "sub-fertility, female" RELATED [MESH:D007247]
synonym: "subfertility, female" RELATED [MESH:D007247]
xref: EFO:0008560 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:N97 {source="MONDO:equivalentTo"}
xref: ICD9:628.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:628.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:5795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007247 {source="MONDO:equivalentTo"}
xref: SCTID:6738008 {source="MONDO:equivalentTo"}
xref: UMLS:C0021361 {source="MEDGEN:5795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="MESH:D007247/inferred", source="MONDO:Redundant"} ! female reproductive system disorder
is_a: MONDO:0005047 {source="EFO:0008560", source="MESH:D007247", source="MONDO:Entailed", source="MONDO:Redundant"} ! infertility disorder
intersection_of: MONDO:0005047 ! infertility disorder
intersection_of: disease_has_location UBERON:0000474 ! female reproductive system

[Term]
id: MONDO:0021125
name: disease characteristic
def: "An attribute of a disease." [https://orcid.org/0000-0002-6601-2165]
synonym: "disease qualifier" EXACT []
synonym: "modifier" EXACT [NCIT:C41009]
synonym: "qualifier" EXACT [NCIT:C41009]
xref: NCIT:C41009 {source="MONDO:equivalentTo"}
is_a: PATO:0000001 ! quality

[Term]
id: MONDO:0021126
name: syndromic or isolated
def: "An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features." [https://orcid.org/0000-0002-6601-2165]
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0021127
name: has a syndromic presentation
def: "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." [https://orcid.org/0000-0002-6601-2165]
is_a: MONDO:0021126 ! syndromic or isolated

[Term]
id: MONDO:0021128
name: has an isolated presentation
def: "An characteristic of a disease in which the disease is manifested as an isolated feature." [https://orcid.org/0000-0002-6601-2165]
is_a: MONDO:0021126 ! syndromic or isolated

[Term]
id: MONDO:0021129
name: microphthalmia
def: "Congenital or developmental anomaly in which the eyeballs are abnormally small." [MESH:D008850]
subset: otar {source="MONDO:OTAR"}
synonym: "microphthalmia" EXACT [MONDO:ambiguous]
synonym: "microphthalmos" NARROW [DOID:10629]
synonym: "nanophthalmia" NARROW EXCLUDE [DOID:10629]
synonym: "nanophthalmos" NARROW [DOID:10629]
synonym: "simple microphthalmos" EXACT [DOID:10629]
xref: DOID:10629 {source="MONDO:equivalentTo", source="EFO:0005569"}
xref: EFO:0005569 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0000568 {source="MONDO:otherHierarchy"}
xref: ICD10CM:Q11.2 {source="Orphanet:35612", source="Orphanet:35612/e", source="DOID:10629", source="Orphanet:35612/specific"}
xref: ICD9:743.1 {source="EFO:0005569", source="DOID:10629"}
xref: ICD9:743.10 {source="DOID:10629"}
xref: ICD9:743.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10629"}
xref: MEDGEN:10033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008850 {source="MONDO:equivalentTo", source="EFO:0005569", source="DOID:10629"}
xref: NCIT:C98989 {source="MONDO:equivalentTo", source="EFO:0005569", source="DOID:10629"}
xref: SCTID:156902006 {source="DOID:10629"}
xref: SCTID:204104003 {source="DOID:10629"}
xref: SCTID:204107005 {source="DOID:10629"}
xref: SCTID:204108000 {source="MONDO:equivalentTo", source="DOID:10629"}
xref: SCTID:204110003 {source="DOID:10629"}
xref: SCTID:268310007 {source="DOID:10629"}
xref: SCTID:61142002 {source="EFO:0005569", source="DOID:10629"}
xref: UMLS:C0026010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10033"}
is_a: MONDO:0005328 {source="DOID:10629", source="EFO:0005569", source="MESH:D008850/inferred", source="NCIT:C98989/inferred"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4626" xsd:anyURI

[Term]
id: MONDO:0021130
name: disorder of sphingolipid biosynthesis
def: "An inherited metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process." [MONDO:patterns/inborn_metabolic]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "inborn error of sphingolipid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn sphingolipid biosynthetic process disorder" EXACT []
synonym: "rare inborn error of sphingolipid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic]
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0030148 ! sphingolipid biosynthetic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0021131
name: frontal lobe ependymal tumor
def: "An ependymal tumor affecting the frontal lobe of the brain." [NCIT:C131573]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ependymal tumor of frontal lobe" EXACT [MONDO:design_pattern]
synonym: "ependymal tumour of frontal lobe" EXACT OMO:0003005 []
synonym: "frontal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131573]
xref: MEDGEN:1391114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131573 {source="MONDO:equivalentTo"}
xref: UMLS:C4330009 {source="MEDGEN:1391114", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001421 {source="MONDO:Redundant", source="NCIT:C131573"} ! frontal lobe neoplasm
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C131573/inferred"} ! ependymal tumor
is_a: MONDO:0004245 {source="MONDO:Redundant", source="NCIT:C131573"} ! ependymal tumor of brain
intersection_of: MONDO:0003266 ! ependymal tumor
intersection_of: disease_has_location UBERON:0016525 ! frontal lobe

[Term]
id: MONDO:0021132
name: tertiary hyperparathyroidism
def: "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism." [NCIT:C114821]
synonym: "tertiary hyperparathyroidism" EXACT [NCIT:C114821]
xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:488837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114821 {source="MONDO:equivalentTo"}
xref: SCTID:78200003 {source="MONDO:equivalentTo"}
xref: UMLS:C0271858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488837"}
is_a: MONDO:0001741 {source="NCIT:C114821"} ! hyperparathyroidism
relationship: disease_arises_from_feature MONDO:0006964 ! secondary hyperparathyroidism

[Term]
id: MONDO:0021133
name: acquired factor XIII deficiency
def: "An acquired coagulation disorder due to reduced levels and activity of factor XIII." [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1484527/]
subset: gard_rare {source="GARD:22412", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599513"}
subset: orphanet_rare {source="Orphanet:599513"}
subset: rare
synonym: "acquired factor XIII deficiency" EXACT [MONDO:patterns/acquired]
synonym: "aFXIII" EXACT ABBREVIATION [Orphanet:599513]
xref: GARD:22412 {source="MONDO:GARD"}
xref: MEDGEN:1393253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200897 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131629 {source="MONDO:equivalentTo"}
xref: Orphanet:599513 {source="MONDO:equivalentTo"}
xref: UMLS:C0238120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1393253"}
is_a: MONDO:0002241 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! factor XIII deficiency
intersection_of: MONDO:0002241 ! factor XIII deficiency
intersection_of: has_characteristic MONDO:0021141 ! acquired
relationship: excluded_subClassOf MONDO:0018029 {source="NCIT:C131629", source="https://orcid.org/0000-0001-5208-3432"} ! congenital factor XIII deficiency

[Term]
id: MONDO:0021134
name: acquired factor X deficiency
def: "An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition." []
subset: gard_rare {source="GARD:22410", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599501"}
subset: orphanet_rare {source="Orphanet:599501"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired factor X deficiency" EXACT [MONDO:patterns/acquired]
synonym: "aFX" EXACT ABBREVIATION [Orphanet:599501]
xref: GARD:22410 {source="MONDO:GARD"}
xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:543977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1201048 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131626 {source="MONDO:equivalentTo"}
xref: Orphanet:599501 {source="MONDO:equivalentTo"}
xref: SCTID:33820001 {source="MONDO:equivalentTo"}
xref: UMLS:C0272328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543977"}
is_a: MONDO:0002247 {source="MONDO:Redundant", source="NCIT:C131626", source="https://orcid.org/0000-0002-6601-2165"} ! factor X deficiency
intersection_of: MONDO:0002247 ! factor X deficiency
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0021135
name: rare or common
comment: Reason for obsoletion: this term was created for characterizing a disease via axiom. We do not maintain axioms to indicate that a disease is rare/not-rare. Please use the Mondo rare disease subset for identify rare diseases.
subset: obsoletion_candidate
is_a: MONDO:0021125 ! disease characteristic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6448" xsd:anyURI
property_value: IAO:0006012 "2024-08-01" xsd:string

[Term]
id: MONDO:0021136
name: rare
def: "A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet." [https://www.rarediseaseday.org/article/what-is-a-rare-disease]
comment: Reason for obsoletion: this term was created for characterizing a disease via axiom. We do not maintain axioms to indicate that a disease is rare/not-rare. Please use the Mondo rare disease subset for identify rare diseases.
subset: obsoletion_candidate
synonym: "rare (European definition)" EXACT []
is_a: MONDO:0021135 ! rare or common
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6448" xsd:anyURI
property_value: IAO:0006012 "2024-08-01" xsd:string

[Term]
id: MONDO:0021137
name: not rare
comment: Reason for obsoletion: this term was created for characterizing a disease via axiom. We do not maintain axioms to indicate that a disease is rare/not-rare. Please use the Mondo rare disease subset for identify rare diseases.
subset: obsoletion_candidate
synonym: "common" EXACT []
is_a: MONDO:0021135 ! rare or common
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6448" xsd:anyURI
property_value: IAO:0006012 "2024-08-01" xsd:string

[Term]
id: MONDO:0021138
name: bone marrow cancer
def: "Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003" [NCIT:C35501]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bone marrow cancer" EXACT [MONDO:patterns/location, NCIT:C35501]
synonym: "cancer of bone marrow" EXACT [MONDO:patterns/cancer]
synonym: "malignant bone marrow neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35501]
synonym: "malignant bone marrow tumor" EXACT [NCIT:C35501]
synonym: "malignant bone marrow tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of bone marrow" EXACT [MONDO:patterns/cancer]
xref: MEDGEN:438070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35501 {source="MONDO:equivalentTo"}
xref: UMLS:C2703042 {source="MEDGEN:438070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005374 {source="MONDO:Redundant", source="NCIT:C35501"} ! bone marrow neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002371 ! bone marrow
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0021139
name: congenital or acquired
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0021140
name: congenital
def: "A characteristic of a disease in which the disease is present at birth, regardless of cause." [Wikipedia:Birth_defect]
synonym: "inborn" EXACT []
is_a: MONDO:0021139 ! congenital or acquired
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0021141
name: acquired
synonym: "not genetically inherited" EXACT [Orphanet:409941]
xref: Orphanet:409941 {source="MONDO:equivalentTo"}
is_a: MONDO:0021139 ! congenital or acquired

[Term]
id: MONDO:0021142
name: acquired rippling muscle disease
def: "The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported." [doi:10.1002/mus.10156]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acquired rippling muscle disease" EXACT [MONDO:patterns/acquired]
synonym: "sporadic rippling muscle disease" EXACT [https://orcid.org/0000-0002-6601-2165]
is_a: MONDO:0011634 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! rippling muscle disease
intersection_of: MONDO:0011634 ! rippling muscle disease
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0021143
name: melanocytic neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "melanocytic neoplasm" EXACT [NCIT:C7058]
synonym: "melanomas and nevi" RELATED [MESH:D018326]
xref: MEDGEN:224910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018326 {source="MONDO:equivalentTo"}
xref: NCIT:C7058 {source="MONDO:equivalentTo"}
xref: SCTID:399956005 {source="MONDO:equivalentTo"}
xref: UMLS:C1302746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224910"}
is_a: MONDO:0005070 {source="MESH:D018326/inferred", source="MONDO:Redundant", source="NCIT:C7058/inferred"} ! neoplasm
is_a: MONDO:0021635 {source="https://orcid.org/0000-0002-6601-2165"} ! neurocristopathy
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000148 ! melanocyte

[Term]
id: MONDO:0021144
name: ovarian clear cell tumor
def: "A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells." [NCIT:C40076]
subset: otar {source="MONDO:OTAR"}
synonym: "clear cell ovarian cancer" RELATED [ONCOTREE:CCOV]
synonym: "ovarian clear cell neoplasm" EXACT [NCIT:C40076]
synonym: "ovarian clear cell tumor" EXACT [NCIT:C40076]
xref: MEDGEN:138040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40076 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CCOV {source="MONDO:equivalentTo"}
xref: UMLS:C0346164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138040"}
is_a: MONDO:0002229 {source="NCIT:C40076", source="ONCOTREE:CCOV"} ! ovarian epithelial tumor

[Term]
id: MONDO:0021145
name: obsolete disorder of genitourinary system
def: "OBSOLETE. A disease that involves the genitourinary system." [MONDO:patterns/location]
comment: Reason: out of scope - grouping term. Terms to consider: 'reproductive system disorder' (MONDO:0005039), 'urinary system disorder' (MONDO:0002118).
synonym: "disease of genitourinary system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of genitourinary system" EXACT []
synonym: "disorder of genitourinary system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of the genitourinary system" EXACT []
synonym: "genitourinary system disease" EXACT [MONDO:patterns/location]
synonym: "genitourinary system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "syndrome of the genitourinary system" RELATED []
synonym: "urogenital disease" RELATED []
synonym: "urogenital disorder" RELATED []
xref: ICD10CM:N00-N99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: SCTID:42030000 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4113" xsd:anyURI
is_obsolete: true
consider: MONDO:0002118
consider: MONDO:0005039

[Term]
id: MONDO:0021146
name: headache disorder
def: "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D020773]
subset: otar {source="MONDO:OTAR"}
synonym: "cephalgia syndrome" RELATED [MESH:D020773]
synonym: "cephalgia syndromes" RELATED [MESH:D020773]
synonym: "chronic daily headache" RELATED [MESH:D020773]
synonym: "chronic daily headaches" RELATED [MESH:D020773]
synonym: "chronic headache" RELATED [MESH:D020773]
synonym: "chronic headaches" RELATED [MESH:D020773]
synonym: "daily headache, chronic" RELATED [MESH:D020773]
synonym: "daily headaches, chronic" RELATED [MESH:D020773]
synonym: "headache disorder" EXACT [MESH:D020773]
synonym: "headache syndrome" RELATED [MESH:D020773]
synonym: "headache syndromes" RELATED [MESH:D020773]
synonym: "headache, chronic" RELATED [MESH:D020773]
synonym: "headache, chronic daily" RELATED [MESH:D020773]
synonym: "headache, intractable" RELATED [MESH:D020773]
synonym: "headaches, chronic" RELATED [MESH:D020773]
synonym: "headaches, chronic daily" RELATED [MESH:D020773]
synonym: "headaches, intractable" RELATED [MESH:D020773]
synonym: "intractable headache" RELATED [MESH:D020773]
synonym: "intractable headaches" RELATED [MESH:D020773]
synonym: "syndrome, headache" RELATED [MESH:D020773]
xref: EFO:0009550 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G40-G47 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:140743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020773 {source="MONDO:equivalentTo"}
xref: SCTID:230461009 {source="MONDO:equivalentTo"}
xref: UMLS:C0393735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140743"}
is_a: MONDO:0700057 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-6601-2165"} ! neurological pain disorder
intersection_of: MONDO:0700057 ! neurological pain disorder
intersection_of: disease_has_major_feature HP:0002315 ! Headache
relationship: excluded_subClassOf MONDO:0005560 {source="MESH:D020773", source="https://orcid.org/0000-0001-5208-3432"} ! brain disorder

[Term]
id: MONDO:0021147
name: disorder of development or morphogenesis
def: "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development." [https://orcid.org/0000-0002-6601-2165]
subset: harrisons_view
subset: rare_grouping
xref: ICD10CM:Q00-Q99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1843482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0694457 {source="MEDGEN:1843482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_disrupts GO:0032502 ! developmental process

[Term]
id: MONDO:0021148
name: female reproductive system neoplasm
def: "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma." [NCIT:C3053]
subset: otar {source="MONDO:OTAR"}
synonym: "female reproductive organ neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "female reproductive organ tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "female reproductive organ tumour" EXACT OMO:0003005 []
synonym: "female reproductive system neoplasm" EXACT [NCIT:C3053]
synonym: "female reproductive system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "female reproductive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3053]
synonym: "female reproductive system tumour" EXACT OMO:0003005 []
synonym: "gynecologic neoplasm" EXACT [NCIT:C3053]
synonym: "gynecologic tumor" EXACT [NCIT:C3053]
synonym: "gynecologic tumour" EXACT OMO:0003005 []
synonym: "neoplasm of female reproductive organ" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of female reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3053]
synonym: "neoplasm of the female reproductive system" EXACT [NCIT:C3053]
synonym: "tumor of female reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3053]
synonym: "tumor of the female reproductive system" EXACT [NCIT:C3053]
synonym: "tumour of female reproductive system" EXACT OMO:0003005 []
synonym: "tumour of the female reproductive system" EXACT OMO:0003005 []
xref: ICD10CM:C51-C58 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:9004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005833 {source="MONDO:equivalentTo"}
xref: NCIT:C3053 {source="MONDO:equivalentTo"}
xref: UMLS:C0017416 {source="MEDGEN:9004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="MONDO:Redundant", source="NCIT:C3053"} ! female reproductive system disorder
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C3053"} ! reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000474 ! female reproductive system

[Term]
id: MONDO:0021149
name: hereditary vs non-hereditary etiology
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0021150
name: obsolete genetic characteristic
is_obsolete: true
replaced_by: MONDO:0021152

[Term]
id: MONDO:0021151
name: non-genetic
synonym: "non-genomic" RELATED []
is_a: MONDO:0021149 ! hereditary vs non-hereditary etiology

[Term]
id: MONDO:0021152
name: inherited
def: "A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents." [https://orcid.org/0000-0002-6601-2165]
synonym: "constitutitional genetic" RELATED []
synonym: "familial" RELATED []
synonym: "genetic" RELATED []
synonym: "hereditary" RELATED []
synonym: "inherited genetic" RELATED []
is_a: MONDO:0021149 ! hereditary vs non-hereditary etiology

[Term]
id: MONDO:0021153
name: obsolete genetic and acquired
synonym: "somatic genetic" RELATED []
is_obsolete: true

[Term]
id: MONDO:0021154
name: dermis disorder
def: "A disease that involves the dermis." [MONDO:patterns/location]
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:79381"}
synonym: "dermis disease" EXACT [MONDO:patterns/location]
synonym: "dermis disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of dermis" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of dermis" EXACT []
synonym: "disorder of dermis" EXACT [MONDO:patterns/location_top]
synonym: "other dermis disorder" EXACT [MONDO:0019295]
xref: MEDGEN:1843083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:79381 {source="MONDO:equivalentTo"}
xref: UMLS:C5681483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843083"}
is_a: MONDO:0005093 {source="https://orcid.org/0000-0002-4071-8397"} ! skin disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002067 ! dermis
relationship: excluded_subClassOf MONDO:0019291 {source="Orphanet:79381", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic dermis disorder

[Term]
id: MONDO:0021155
name: X-linked cone-rod dystrophy
def: "X-linked form of cone-rod dystrophy." [MONDO:patterns/x_linked]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cone-rod dystrophy, X-linked" EXACT [MONDO:patterns/x_linked]
intersection_of: MONDO:0015993 ! cone-rod dystrophy
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance

[Term]
id: MONDO:0021156
name: hypophysitis
def: "Inflammation of the pituitary gland." [MESH:D000072659]
comment: Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/
synonym: "gland, pituitary" EXACT [NCIT:C12399]
synonym: "hypophysis" EXACT [NCIT:C12399]
synonym: "hypophysis cerebri" EXACT [NCIT:C12399]
synonym: "hypophysitides" EXACT [MESH:D000072659]
synonym: "inflammation of pituitary gland" EXACT []
synonym: "nervous system, pituitary" EXACT [NCIT:C12399]
synonym: "pituitary" EXACT [NCIT:C12399]
synonym: "pituitary gland" EXACT [NCIT:C12399]
synonym: "pituitary gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: MEDGEN:575012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000072659 {source="MONDO:equivalentTo"}
xref: NCIT:C12399 {source="MONDO:equivalentTo"}
xref: SCTID:237705001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342409 {source="MEDGEN:575012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003381 {source="MESH:D000072659", source="MONDO:Redundant"} ! pituitary gland disorder
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000007 ! pituitary gland

[Term]
id: MONDO:0021157
name: gonococcal cervicitis
synonym: "gonorrhea of cervix" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "gonorrhea of uterine cervix" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "gonorrhoea of cervix" EXACT OMO:0003005 []
synonym: "gonorrhoea of uterine cervix" EXACT OMO:0003005 []
xref: MEDGEN:678343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237083000 {source="MONDO:equivalentTo"}
xref: UMLS:C0812378 {source="MEDGEN:678343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002345 {source="https://orcid.org/0000-0001-5208-3432"} ! cervicitis
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
intersection_of: disease_has_inflammation_site UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0021158
name: gonococcal epididymo-orchitis
xref: MEDGEN:574637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:236772009 {source="MONDO:equivalentTo"}
xref: UMLS:C0341782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574637"}
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0004778 {source="MONDO:Redundant"} ! epididymo-orchitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
intersection_of: disease_has_inflammation_site UBERON:0000473 ! testis
intersection_of: disease_has_inflammation_site UBERON:0001301 ! epididymis

[Term]
id: MONDO:0021159
name: gonococcal salpingitis
def: "An salpingitis caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae caused salpingitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae salpingitis" EXACT []
xref: MEDGEN:574651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237038001 {source="MONDO:equivalentTo"}
xref: UMLS:C0341811 {source="MEDGEN:574651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003619 {source="MONDO:Redundant"} ! salpingitis
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
intersection_of: MONDO:0003619 ! salpingitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae

[Term]
id: MONDO:0021160
name: gonococcal cystitis
def: "An cystitis caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae caused cystitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae cystitis" EXACT []
xref: MEDGEN:633096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197848003 {source="MONDO:equivalentTo"}
xref: UMLS:C0473230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:633096"}
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0006032 {source="MONDO:Redundant"} ! cystitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0006032 ! cystitis
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae

[Term]
id: MONDO:0021161
name: gonococcal prostatitis
def: "An prostatitis (disease) caused by infection with Neisseria gonorrhoeae." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae caused prostatitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neisseria gonorrhoeae prostatitis (disease)" EXACT []
xref: MEDGEN:574622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197967000 {source="MONDO:equivalentTo"}
xref: UMLS:C0341755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574622"}
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0005280 {source="MONDO:Redundant"} ! prostatitis
intersection_of: MONDO:0005280 ! prostatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae

[Term]
id: MONDO:0021162
name: carotenemia
synonym: "acquired carotenemia" EXACT [DOID:9969]
synonym: "hypercarotinemia" EXACT [DOID:9969, ICD9CM:278.3]
xref: DOID:9969 {source="MONDO:equivalentTo"}
xref: ICD10CM:E67.1 {source="DOID:9969"}
xref: ICD9:278.3 {source="MONDO:equivalentTo", source="DOID:9969", source="MONDO:i2s"}
xref: MEDGEN:56338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26963 {source="MONDO:otherHierarchy", source="DOID:9969"}
xref: SCTID:35487009 {source="MONDO:equivalentTo", source="DOID:9969"}
xref: UMLS:C0154271 {source="MEDGEN:56338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006504 {source="DOID:9969", source="MONDO:Entailed", source="MONDO:Redundant"} ! acquired metabolic disease
intersection_of: MONDO:0006504 ! acquired metabolic disease
intersection_of: disease_has_basis_in_disruption_of GO:0016116 ! carotenoid metabolic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0021163
name: kidney neoplasm
def: "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma." [NCIT:C3150]
subset: otar {source="MONDO:OTAR"}
synonym: "kidney neoplasm" EXACT [NCIT:C3150]
synonym: "kidney neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "kidney tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3150]
synonym: "kidney tumour" EXACT OMO:0003005 []
synonym: "neoplasm of kidney" EXACT [MONDO:patterns/neoplasm, NCIT:C3150]
synonym: "neoplasm of the kidney" EXACT [NCIT:C3150]
synonym: "renal neoplasm" EXACT [NCIT:C3150]
synonym: "renal tumor" EXACT [NCIT:C3150]
synonym: "renal tumors" EXACT [NCIT:C3150]
synonym: "renal tumour" EXACT OMO:0003005 []
synonym: "renal tumours" EXACT OMO:0003005 []
synonym: "tumor of kidney" EXACT [MONDO:patterns/neoplasm, NCIT:C3150]
synonym: "tumor of the kidney" EXACT [NCIT:C3150]
synonym: "tumour of kidney" EXACT OMO:0003005 []
synonym: "tumour of the kidney" EXACT OMO:0003005 []
xref: EFO:0003865 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:5967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12415 {source="ONCOTREE:KIDNEY"}
xref: NCIT:C3150 {source="MONDO:equivalentTo"}
xref: ONCOTREE:KIDNEY {source="MONDO:equivalentTo"}
xref: SCTID:126880001 {source="MONDO:equivalentTo"}
xref: UMLS:C0022665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5967"}
is_a: MONDO:0005240 {source="MONDO:Redundant", source="NCIT:C3150"} ! kidney disorder
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3150/inferred"} ! urinary system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002113 ! kidney

[Term]
id: MONDO:0021164
name: posthitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis." [MONDO:patterns/inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of prepuce of penis" EXACT []
synonym: "prepuce of penis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: MEDGEN:536423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:44318002 {source="MONDO:equivalentTo"}
xref: UMLS:C0235640 {source="MEDGEN:536423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001332 ! prepuce of penis

[Term]
id: MONDO:0021165
name: Paget disease
def: "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum." [NCIT:C7073]
subset: otar {source="MONDO:OTAR"}
synonym: "Paget cell neoplasm" BROAD [NCIT:C7073]
synonym: "Paget disease" EXACT [NCIT:C7073]
synonym: "Paget's cell neoplasm" EXACT [NCIT:C7073]
synonym: "Paget's disease" EXACT [NCIT:C7073]
xref: MEDGEN:277958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7073 {source="MONDO:equivalentTo"}
xref: UMLS:C1368019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277958"}
is_a: MONDO:0004970 {source="NCIT:C7073"} ! adenocarcinoma

[Term]
id: MONDO:0021166
name: inflammatory disease
def: "A disease involving a pathogenic inflammatory response in the anatomical structure." [MONDO:patterns/inflammatory_disease_by_site]
subset: harrisons_view
subset: rare_grouping
synonym: "anatomical structure inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of anatomical structure" EXACT []
synonym: "inflammatory disease" EXACT []
synonym: "inflammatory disorder" EXACT []
xref: ICD10CM:G00-G09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:452939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C93210 {source="MONDO:equivalentTo"}
xref: SCTID:128139000 {source="MONDO:equivalentTo"}
xref: UMLS:C1290884 {source="MEDGEN:452939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_inflammation_site UBERON:0000061 ! anatomical structure
relationship: disease_disrupts GO:0006954 ! inflammatory response

[Term]
id: MONDO:0021167
name: myositis disease
def: "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue." [MONDO:patterns/inflammatory_disease_by_site]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inflammation of muscle tissue" EXACT []
synonym: "inflammatory disorder of muscle" EXACT [DOID:633]
synonym: "inflammatory disorder of muscle (disorder)" EXACT []
synonym: "muscle tissue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: DOID:633 {source="EFO:0000783", source="MONDO:equivalentTo"}
xref: EFO:0000783 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:G72.49 {source="DOID:633"}
xref: ICD10CM:M60 {source="DOID:633"}
xref: ICD10CM:M60.9 {source="DOID:633"}
xref: ICD9:728.9 {source="EFO:0000783"}
xref: MEDGEN:44564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009220 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo"}
xref: NCIT:C27578 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo"}
xref: SCTID:128496001 {source="DOID:633", source="EFO:0000783", source="MONDO:equivalentTo"}
xref: SCTID:203110007 {source="DOID:633"}
xref: SCTID:268108002 {source="DOID:633"}
xref: SCTID:26889001 {source="DOID:633", source="EFO:0000783"}
xref: UMLS:C0027121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44564"}
is_a: MONDO:0005336 {source="DOID:633"} ! myopathy
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue
relationship: disease_has_location UBERON:0000383 {source="EFO:0000784"} ! musculature of body

[Term]
id: MONDO:0021168
name: hibernoma
def: "A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults." [NCIT:C3702]
synonym: "Brown fat neoplasm" EXACT [NCIT:C3702]
synonym: "Brown fat tumor" EXACT [NCIT:C3702]
synonym: "Brown fat tumour" EXACT OMO:0003005 []
synonym: "fetal fat cell lipoma" EXACT [NCIT:C3702]
synonym: "foetal fat cell lipoma" EXACT OMO:0003005 []
synonym: "hibernoma" EXACT [NCIT:C3702]
synonym: "hibernoma, benign" EXACT [NCIT:C3702]
xref: ICDO:8880/0 {source="NCIT:C3702"}
xref: MEDGEN:61456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3702 {source="MONDO:equivalentTo"}
xref: SCTID:404064001 {source="MONDO:equivalentTo"}
xref: UMLS:C0205822 {source="MEDGEN:61456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005106 {source="NCIT:C3702"} ! lipoma

[Term]
id: MONDO:0021169
name: epithelioid hemangioma
def: "A hemangioma characterized by the presence of epithelioid endothelial cells." [NCIT:C4298]
subset: ordo_disorder {source="Orphanet:675396"}
subset: orphanet_rare {source="Orphanet:675396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angiolymphoid hyperplasia with eosinophilia" RELATED EXCLUDE [DOID:474, NCIT:C4298]
synonym: "epithelioid haemangioma" EXACT [DOID:474]
synonym: "epithelioid hemangioma" EXACT [DOID:474, NCIT:C4298]
synonym: "histiocytoid hemangioma" EXACT [MONDO:0003119, NCIT:C4298]
xref: DOID:474 {source="MONDO:equivalentTo"}
xref: ICDO:9125/0 {source="NCIT:C4298"}
xref: MEDGEN:61449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006391 {source="DOID:474"}
xref: NCIT:C4298 {source="MONDO:equivalentTo", source="DOID:474"}
xref: Orphanet:675396 {source="MONDO:equivalentTo"}
xref: SCTID:125574005 {source="DOID:474"}
xref: SCTID:189869009 {source="DOID:474"}
xref: SCTID:189870005 {source="DOID:474"}
xref: SCTID:253054009 {source="DOID:474"}
xref: SCTID:33929001 {source="DOID:474"}
xref: SCTID:69159005 {source="DOID:474"}
xref: UMLS:C0205788 {source="MEDGEN:61449", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="DOID:474", source="NCIT:C4298"} ! hemangioma

[Term]
id: MONDO:0021170
name: obsolete amyotonia congenita
synonym: "amyotonia congenita" RELATED [OMIM:205000]
synonym: "Oppenheim disease" RELATED [GARD:0005798, OMIM:205000]
synonym: "Oppenheim's disease" RELATED [GARD:0005798]
is_obsolete: true

[Term]
id: MONDO:0021171
name: Timothy syndrome, classic type
def: "Classic form of Timothy syndrome, includes all features of generic." [https://ghr.nlm.nih.gov/condition/timothy-syndrome]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Timothy syndrome type 1 (disorder)" EXACT [SCTID:699256006]
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: SCTID:699256006 {source="MONDO:equivalentTo"}
is_a: MONDO:0010979 {source="https://ghr.nlm.nih.gov/condition/timothy-syndrome"} ! Timothy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4746" xsd:anyURI

[Term]
id: MONDO:0021172
name: Timothy syndrome, atypical type
def: "Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death." [https://ghr.nlm.nih.gov/condition/timothy-syndrome]
subset: gard_rare {source="GARD:22382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:595109"}
subset: rare
synonym: "ATS" EXACT ABBREVIATION [Orphanet:595109]
synonym: "Atypical LQT8" EXACT [Orphanet:595109]
synonym: "atypical Timothy syndrome" EXACT [Orphanet:595109]
synonym: "Timothy syndrome type 2 (disorder)" EXACT [SCTID:719907006]
xref: GARD:22382 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:595109"}
xref: MEDGEN:1805271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:595109 {source="MONDO:equivalentTo"}
xref: SCTID:719907006 {source="MONDO:equivalentTo"}
xref: UMLS:C5575746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805271"}
is_a: MONDO:0010979 {source="https://ghr.nlm.nih.gov/condition/timothy-syndrome"} ! Timothy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4746" xsd:anyURI

[Term]
id: MONDO:0021175
name: herpetic vulvovaginitis
def: "Infection of the vulva and the vagina caused by herpes simplex virus." [NCIT:C34697]
synonym: "Herpetic Vulvovaginitis" RELATED [NCIT:C34697]
synonym: "Herpetic vulvovaginitis" RELATED [UMLS:C0019386]
synonym: "herpetic vulvovaginitis" EXACT [NCIT:C34697]
xref: ICD9:054.11
xref: MEDGEN:42440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34697 {source="UMLS:C0019386", source="MONDO:equivalentTo"}
xref: SCTID:27420004 {source="UMLS:C0019386", source="MONDO:equivalentTo"}
xref: UMLS:C0019386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42440"}
is_a: MONDO:0007019 {source="NCIT:C34697", source="UMLS:C0019386"} ! vulvovaginitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina
intersection_of: disease_has_inflammation_site UBERON:0000997 ! mammalian vulva
intersection_of: MONDO:0100332 NCBITaxon:10335 ! disease has primary infectious agent Human alphaherpesvirus 3

[Term]
id: MONDO:0021176
name: autoimmune hepatitis type 2
def: "Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/]
subset: gard_rare {source="GARD:22252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563581"}
subset: rare
synonym: "autoimmune hepatitis type 2" EXACT []
synonym: "type 2 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/]
xref: GARD:22252 {source="MONDO:GARD"}
xref: MEDGEN:928832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563581 {source="MONDO:equivalentTo"}
xref: SCTID:721712002 {source="MONDO:equivalentTo"}
xref: UMLS:C4303163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928832"}
is_a: MONDO:0016264 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis

[Term]
id: MONDO:0021177
name: autoimmune hepatitis type 3
def: "Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "autoimmune hepatitis type 3" EXACT []
xref: MEDGEN:928831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:721713007 {source="MONDO:equivalentTo"}
xref: UMLS:C4303162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928831"}
is_a: MONDO:0016264 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis

[Term]
id: MONDO:0021178
name: injury
def: "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." [NCIT:C3671]
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
subset: other_hierarchy
synonym: "injury" EXACT [NCIT:C3671]
synonym: "trauma" EXACT [NCIT:C3671]
synonym: "traumatic injury" EXACT [NCIT:C3671]
synonym: "wound" EXACT [NCIT:C3671]
xref: EFO:0000546 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:S00-S09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S00-T88 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S00-T98
xref: ICD10CM:S10-S19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S20-S29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S30-S39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S40-S49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S50-S59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S60-S69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S70-S79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S80-S89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:S90-S99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:T07-T07 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:T14-T14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:T33-T34 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D014947 {source="MONDO:equivalentTo"}
xref: NCIT:C3671 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy"}

[Term]
id: MONDO:0021179
name: proteostasis deficiencies
def: "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." [MESH:D057165]
subset: otar {source="MONDO:OTAR"}
synonym: "deficiencies, Proteostasis" EXACT [MESH:D057165]
synonym: "deficiency, Proteostasis" EXACT [MESH:D057165]
synonym: "disease, Protein folding" NARROW [MESH:D057165]
synonym: "disease, Protein Misfolding" NARROW [MESH:D057165]
synonym: "diseases, Protein folding" NARROW [MESH:D057165]
synonym: "diseases, Protein Misfolding" NARROW [MESH:D057165]
synonym: "disorder, Protein folding" NARROW [MESH:D057165]
synonym: "disorder, Protein Misfolding" NARROW [MESH:D057165]
synonym: "disorders, Protein folding" NARROW [MESH:D057165]
synonym: "disorders, Protein Misfolding" NARROW [MESH:D057165]
synonym: "dysfunction, Proteostasis" EXACT [MESH:D057165]
synonym: "dysfunctions, Proteostasis" EXACT [MESH:D057165]
synonym: "folding disease, Protein" NARROW [MESH:D057165]
synonym: "folding diseases, Protein" NARROW [MESH:D057165]
synonym: "folding disorder, Protein" NARROW [MESH:D057165]
synonym: "folding disorders, Protein" NARROW [MESH:D057165]
synonym: "Misfolding disease, Protein" NARROW [MESH:D057165]
synonym: "Misfolding diseases, Protein" NARROW [MESH:D057165]
synonym: "Misfolding disorder, Protein" NARROW [MESH:D057165]
synonym: "Misfolding disorders, Protein" NARROW [MESH:D057165]
synonym: "Protein folding disease" NARROW [MESH:D057165]
synonym: "Protein folding diseases" NARROW [MESH:D057165]
synonym: "Protein folding disorder" NARROW [MESH:D057165]
synonym: "Protein folding disorders" NARROW [MESH:D057165]
synonym: "Protein Misfolding disease" NARROW [MESH:D057165]
synonym: "Protein Misfolding diseases" NARROW [MESH:D057165]
synonym: "Protein Misfolding disorder" NARROW [MESH:D057165]
synonym: "Protein Misfolding disorders" NARROW [MESH:D057165]
synonym: "proteinopathy" RELATED [https://orcid.org/0000-0002-6601-2165, Wikipedia:Proteopathy]
synonym: "proteopathic disease" RELATED [https://orcid.org/0000-0002-6601-2165, Wikipedia:Proteopathy]
synonym: "proteopathy" RELATED [https://orcid.org/0000-0002-6601-2165, Wikipedia:Proteopathy]
synonym: "Proteostasis deficiency" EXACT [MESH:D057165]
synonym: "Proteostasis dysfunction" EXACT [MESH:D057165]
synonym: "Proteostasis dysfunctions" EXACT [MESH:D057165]
xref: MEDGEN:403490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057165 {source="MONDO:equivalentTo"}
xref: UMLS:C2718000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:403490"}
is_a: MONDO:0005066 {source="MESH:D057165"} ! metabolic disease

[Term]
id: MONDO:0021180
name: acquired xanthinuria
def: "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." [https://www.sciencedirect.com/topics/medicine-and-dentistry/xanthinuria]
synonym: "acquired xanthinuria" EXACT [MONDO:patterns/acquired]
intersection_of: MONDO:0000721 ! xanthinuria
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0021181
name: inherited blood coagulation disorder
def: "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." [MESH:D025861]
subset: disease_grouping
subset: gard_rare {source="GARD:20319", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183654"}
subset: rare
synonym: "coagulation disorder, hereditary" EXACT [MESH:D025861]
synonym: "coagulation disorder, inherited" EXACT [MESH:D025861]
synonym: "coagulation disorders, hereditary" EXACT [MESH:D025861]
synonym: "coagulation disorders, inherited" EXACT [MESH:D025861]
synonym: "hereditary blood coagulation disease" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary blood coagulation disorders" EXACT [MESH:D025861]
synonym: "hereditary coagulation disorder" EXACT [MESH:D025861]
synonym: "hereditary coagulation disorders" EXACT [MESH:D025861]
synonym: "inherited blood coagulation disease" RELATED [DOID:2214]
synonym: "inherited blood coagulation disorders" EXACT [MESH:D025861]
synonym: "inherited coagulation disorder" EXACT [MESH:D025861]
synonym: "inherited coagulation disorders" EXACT [MESH:D025861]
synonym: "rare genetic coagulation disorder" EXACT [Orphanet:98429]
xref: DOID:2214 {source="MONDO:equivalentObsolete"}
xref: GARD:20319 {source="MONDO:GARD"}
xref: MEDGEN:163105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D025861 {source="MONDO:equivalentTo", source="DOID:2214"}
xref: Orphanet:183654 {source="MONDO:equivalentTo"}
xref: Orphanet:98429 {source="DOID:2214"}
xref: UMLS:C0852077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163105"}
is_a: MONDO:0001531 {source="DOID:2214", source="MESH:D025861", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! blood coagulation disease
is_a: MONDO:0003847 {source="MESH:D025861", source="MONDO:Entailed", source="MONDO:Redundant"} ! hereditary disease
is_a: MONDO:0005570 {source="MONDO:Redundant", source="Orphanet:183654"} ! hematologic disorder
intersection_of: MONDO:0001531 ! blood coagulation disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015549"} ! rare

[Term]
id: MONDO:0021183
name: HTLV-2 infection
subset: otar {source="MONDO:OTAR"}
synonym: "HTLV II INFECT" RELATED [MESH:D015491]
synonym: "HTLV-2 infection" EXACT [UMLS:C0020102]
synonym: "HTLV-II Infection" RELATED [MESH:D015491]
synonym: "HTLV-II infection" RELATED [UMLS:C0020102]
synonym: "HTLV-II Infections" RELATED [MESH:D015491]
synonym: "Human T lymphotropic Virus 2 Infection" RELATED [MESH:D015491]
synonym: "Human T lymphotropic Virus 2 Infections" RELATED [MESH:D015491]
synonym: "Human T-lymphotropic Virus 2 Infection" RELATED [MESH:D015491]
synonym: "Human T-lymphotropic virus 2 infection" RELATED [UMLS:C0020102]
synonym: "Human T-lymphotropic Virus 2 Infections" RELATED [MESH:D015491]
synonym: "INFECT HTLV II" RELATED [MESH:D015491]
synonym: "Infection, HTLV-II" RELATED [MESH:D015491]
synonym: "Infections, HTLV II" RELATED [MESH:D015491]
synonym: "Infections, HTLV-II" RELATED [MESH:D015491]
xref: EFO:1001349 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:42515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015491 {source="MONDO:equivalentTo", source="UMLS:C0020102"}
xref: SCTID:425740005 {source="MONDO:equivalentTo", source="UMLS:C0020102"}
xref: UMLS:C0020102 {source="MEDGEN:42515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021184 {source="MESH:D015491"} ! deltaretrovirus infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:11909 ! Human T-lymphotropic virus 2
relationship: has_characteristic MONDO:0021136 {source="GARD:0009783"} ! rare

[Term]
id: MONDO:0021184
name: deltaretrovirus infections
def: "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." [MESH:D006800]
subset: otar {source="MONDO:OTAR"}
synonym: "BLV infection" RELATED [MESH:D006800]
synonym: "BLV infections" RELATED [MESH:D006800]
synonym: "Deltaretrovirus infection" RELATED [MESH:D006800]
synonym: "HTLV BLV infections" RELATED [MESH:D006800]
synonym: "HTLV infection" RELATED [MESH:D006800]
synonym: "HTLV infections" RELATED [MESH:D006800]
synonym: "HTLV-BLV infection" RELATED [MESH:D006800]
synonym: "HTLV-BLV infections" RELATED [MESH:D006800]
synonym: "infection, Deltaretrovirus" RELATED [MESH:D006800]
synonym: "infections, Deltaretrovirus" RELATED [MESH:D006800]
xref: EFO:1001303 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:9320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006800 {source="MONDO:equivalentTo"}
xref: UMLS:C0020091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9320"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:153136 ! disease has primary infectious agent Deltaretrovirus

[Term]
id: MONDO:0021187
name: hyperlipidemia
subset: otar {source="MONDO:OTAR"}
synonym: "hyperlipemia" RELATED [MESH:D006949]
synonym: "hyperlipemias" RELATED [MESH:D006949]
synonym: "hyperlipidemia" EXACT [MESH:D006949]
synonym: "hyperlipidemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "lipemia" RELATED [MESH:D006949]
synonym: "lipemias" RELATED [MESH:D006949]
synonym: "lipidemia" RELATED [MESH:D006949]
synonym: "lipidemias" RELATED [MESH:D006949]
xref: HP:0003077 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E78.5 {source="MONDO:equivalentTo"}
xref: ICD9:272.4
xref: MEDGEN:5692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006949 {source="MONDO:equivalentTo"}
xref: SCTID:55822004 {source="MONDO:equivalentTo"}
xref: UMLS:C0020473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5692"}
is_a: MONDO:0005066 {source="ICD10CM:E78.5/inferred", source="MESH:D006949/inferred", source="MONDO:Redundant", source="NCIT:C34709"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_major_feature HP:0003077 ! Hyperlipidemia
relationship: disease_disrupts GO:0006629 ! lipid metabolic process
property_value: IAO:0000589 "hyperlipidemia (disease)" xsd:string

[Term]
id: MONDO:0021188
name: obsolete hemangiopericytoma
is_obsolete: true
replaced_by: MONDO:0005094

[Term]
id: MONDO:0021189
name: intestinal motility disease
def: "A disease that has its basis in the disruption of intestinal motility." [MONDO:patterns/basis_in_disruption_of_process]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of intestinal motility" EXACT [MONDO:patterns/basis_in_disruption_of_process]
xref: MEDGEN:586448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0400865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:586448"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0120054 ! intestinal motility
relationship: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0021190
name: DNA repair disease
def: "A disease that has its basis in the disruption of DNA repair." [MONDO:patterns/basis_in_disruption_of_process]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome instability syndrome" RELATED [MESH:D049914]
synonym: "chromosome instability syndromes" RELATED [MESH:D049914]
synonym: "deficiency of DNA repair" EXACT []
synonym: "deficient DNA repair" RELATED [MESH:D049914]
synonym: "deficient DNA Repairs" RELATED [MESH:D049914]
synonym: "disorder of DNA repair" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder, DNA repair-deficiency" RELATED [MESH:D049914]
synonym: "disorders, DNA repair-deficiency" RELATED [MESH:D049914]
synonym: "DNA repair deficiency" RELATED [MESH:D049914]
synonym: "DNA repair deficiency disorders" RELATED [MESH:D049914]
synonym: "DNA repair disorder" EXACT []
synonym: "DNA repair, deficient" RELATED [MESH:D049914]
synonym: "DNA repair-deficiencies" RELATED [MESH:D049914]
synonym: "DNA repair-deficiency" RELATED [MESH:D049914]
synonym: "DNA repair-deficiency disorder" RELATED [MESH:D049914]
synonym: "DNA Repairs, deficient" RELATED [MESH:D049914]
synonym: "repair, deficient DNA" RELATED [MESH:D049914]
synonym: "Repairs, deficient DNA" RELATED [MESH:D049914]
synonym: "syndrome, chromosome instability" RELATED [MESH:D049914]
synonym: "syndromes, chromosome instability" RELATED [MESH:D049914]
xref: EFO:0008499 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:82774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D049914 {source="MONDO:equivalentTo"}
xref: NCIT:C7757 {source="MONDO:equivalentTo"}
xref: UMLS:C0268134 {source="MEDGEN:82774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disease
is_a: MONDO:0005066 {source="MESH:D049914", source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006281 ! DNA repair
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI

[Term]
id: MONDO:0021191
name: obsolete malignant ependymoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4450" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016700

[Term]
id: MONDO:0021192
name: odontogenic neoplasm
def: "A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain." [NCIT:C3286]
subset: otar {source="MONDO:OTAR"}
synonym: "calcareous tooth neoplasm" EXACT []
synonym: "calcareous tooth neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "calcareous tooth tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "calcareous tooth tumour" EXACT OMO:0003005 []
synonym: "neoplasm of calcareous tooth" EXACT [MONDO:patterns/neoplasm]
synonym: "odontogenic neoplasm" EXACT [NCIT:C3286]
synonym: "odontogenic tumor" EXACT [NCIT:C3286]
synonym: "odontogenic tumour" EXACT OMO:0003005 []
synonym: "tumor of calcareous tooth" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of calcareous tooth" EXACT OMO:0003005 []
xref: ICDO:9270/1 {source="NCIT:C3286"}
xref: MEDGEN:10426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009808 {source="MONDO:equivalentTo"}
xref: NCIT:C3286 {source="MONDO:equivalentTo"}
xref: UMLS:C0028880 {source="MEDGEN:10426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3286/inferred"} ! head and neck neoplasm
is_a: MONDO:0006999 {source="MONDO:Redundant", source="NCIT:C3286"} ! tooth disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001091 ! calcareous tooth

[Term]
id: MONDO:0021193
name: neuroepithelial neoplasm
def: "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors." [NCIT:C3787]
comment: Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of neuroepithelial tissue" EXACT [NCIT:C3787]
synonym: "neoplasm of neuroepithelium" EXACT [NCIT:C3787]
synonym: "neoplasm of the neuroepithelium" EXACT [NCIT:C3787]
synonym: "neuroepithelial neoplasm" EXACT [NCIT:C3787]
synonym: "neuroepithelial neoplasms" EXACT [NCIT:C3787]
synonym: "neuroepithelial tissue neoplasm" EXACT [NCIT:C3787]
synonym: "neuroepithelial tissue tumor" EXACT [NCIT:C3787]
synonym: "neuroepithelial tissue tumour" EXACT OMO:0003005 []
synonym: "neuroepithelial tumor" EXACT [NCIT:C3787]
synonym: "neuroepithelial tumors" EXACT [NCIT:C3787]
synonym: "neuroepithelial tumour" EXACT OMO:0003005 []
synonym: "neuroepithelial tumours" EXACT OMO:0003005 []
synonym: "primary neuroepithelial tumor" RELATED [ONCOTREE:PRNET]
synonym: "primary neuroepithelial tumour" RELATED OMO:0003005 []
synonym: "tumor of neuroepithelial tissue" EXACT [NCIT:C3787]
synonym: "tumor of neuroepithelium" EXACT [NCIT:C3787]
synonym: "tumor of the neuroepithelium" EXACT [NCIT:C3787]
synonym: "tumour of neuroepithelial tissue" EXACT OMO:0003005 []
synonym: "tumour of neuroepithelium" EXACT OMO:0003005 []
synonym: "tumour of the neuroepithelium" EXACT OMO:0003005 []
xref: MEDGEN:60215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018302 {source="MONDO:equivalentTo"}
xref: NCIT:C3787 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PRNET {source="MONDO:equivalentTo"}
xref: UMLS:C0206715 {source="MEDGEN:60215", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="MESH:D018302/inferred", source="MONDO:Redundant", source="NCIT:C3787/inferred"} ! neoplasm
is_a: MONDO:0021248 {source="NCIT:C35562", source="NCIT:C3787/inferred"} ! nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure UBERON:0034705 ! developing neuroepithelium

[Term]
id: MONDO:0021194
name: obsolete disease by subcellular system affected
def: "OBSOLETE. A grouping of diseases based on molecular activity, cellular process or subcellular component." [https://orcid.org/0000-0002-6601-2165]
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
subset: metaclass
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021195
name: obsolete disease by cellular process disrupted
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
subset: metaclass
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021196
name: obsolete disease by molecular activity disrupted
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
subset: metaclass
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021197
name: obsolete disease by cellular component affected
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
subset: metaclass
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021198
name: obsolete rare genetic disease
subset: ordo_group_of_disorders {source="Orphanet:98053"}
xref: GARD:22531 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98053 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0021199
name: obsolete disease by anatomical system
def: "OBSOLETE. A disease that disrupts the functioning of an organ system." [https://orcid.org/0000-0002-6601-2165]
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
subset: metaclass
synonym: "anatomical system disease" EXACT [MONDO:patterns/location]
synonym: "disease of anatomical entity" RELATED [DOID:7]
synonym: "disease of anatomical system" EXACT [MONDO:patterns/location_top]
synonym: "disorder of anatomical system" RELATED [MONDO:patterns/location_top]
xref: DOID:7 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:796.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: SCTID:362965005 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021200
name: obsolete rare disease
def: "OBSOLETE. Any of the forms of disease that have a rare incidence." [MONDO:patterns/rare]
synonym: "rare disease" EXACT [MONDO:patterns/rare]
synonym: "rare disease or disorder" EXACT [MONDO:patterns/rare]
synonym: "rare diseases" EXACT [NCIT:C4873]
synonym: "rare disorder" EXACT [NCIT:C4873]
xref: MESH:D035583 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C4873 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C53543
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000001

[Term]
id: MONDO:0021201
name: skin infection
def: "An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm." [NCIT:C35025]
subset: otar {source="MONDO:OTAR"}
synonym: "skin infection" EXACT [NCIT:C35025]
xref: ICD10CM:L00-L08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:52365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35025 {source="MONDO:equivalentTo"}
xref: SCTID:19824006 {source="MONDO:equivalentTo"}
xref: UMLS:C0037278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52365"}
is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C35025/inferred"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0021202
name: allergic otitis media
def: "A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction." [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic form of otitis media (disease)" EXACT [MONDO:patterns/allergic_form_of_disease]
synonym: "allergic otitis media (disease)" EXACT []
xref: MEDGEN:543352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:26169004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271447 {source="MEDGEN:543352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005441 {source="MONDO:Redundant"} ! otitis media
intersection_of: MONDO:0005441 ! otitis media
intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity

[Term]
id: MONDO:0021203
name: serous otitis media
synonym: "otitis media with effusion" RELATED [Wikipedia:Otitis_media]
synonym: "secretory otitis media" EXACT [Wikipedia:Otitis_media]
synonym: "SOM" EXACT ABBREVIATION [Wikipedia:Otitis_media]
xref: MEDGEN:75752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:80327007 {source="MONDO:equivalentTo"}
xref: UMLS:C0271453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75752"}
is_a: MONDO:0001212 ! non-suppurative otitis media

[Term]
id: MONDO:0021204
name: chronic otitis media
def: "Chronic form of otitis media (disease)." [MONDO:patterns/chronic]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic otitis media (disease)" EXACT []
synonym: "otitis media (disease), chronic" EXACT [MONDO:patterns/chronic]
xref: ICD9:381.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21186006 {source="MONDO:equivalentTo"}
xref: UMLS:C0271441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75751"}
is_a: MONDO:0005441 {source="MONDO:Redundant"} ! otitis media
intersection_of: MONDO:0005441 ! otitis media
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0021205
name: disorder of ear
def: "A disease that involves the ear." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of ear" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ear" EXACT []
synonym: "disorder of ear" EXACT [MONDO:patterns/location_top]
synonym: "Ear disease" EXACT [NCIT:C26757]
synonym: "ear disease" EXACT [MONDO:patterns/location]
synonym: "ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Ear disorder" EXACT [NCIT:C26757]
xref: ICD9:388.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:388.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26757 {source="MONDO:equivalentTo"}
xref: SCTID:25906001 {source="MONDO:equivalentTo"}
xref: UMLS:C0013447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3946"}
is_a: MONDO:0024623 {source="NCIT:C26757", source="https://orcid.org/0000-0002-6601-2165"} ! otorhinolaryngologic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001690 ! ear

[Term]
id: MONDO:0021206
name: chronic non-suppurative otitis media
def: "Chronic form of non-suppurative otitis media." [MONDO:patterns/chronic]
synonym: "non-suppurative otitis media, chronic" EXACT [MONDO:patterns/chronic]
xref: ICD9:381.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:583104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:232254004 {source="MONDO:equivalentTo"}
xref: UMLS:C0395869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:583104"}
is_a: MONDO:0001212 {source="MONDO:Redundant"} ! non-suppurative otitis media
intersection_of: MONDO:0001212 ! non-suppurative otitis media
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0021207
name: Crohn jejunitis
def: "An Crohn disease involving a pathogenic inflammatory response in the jejunum." [MONDO:patterns/specific_inflammatory_disease_by_site]
xref: MEDGEN:540631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:91390005 {source="MONDO:equivalentTo"}
xref: UMLS:C0267379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540631"}
is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease
intersection_of: MONDO:0005011 ! Crohn disease
intersection_of: disease_has_inflammation_site UBERON:0002115 ! jejunum

[Term]
id: MONDO:0021208
name: endocrine alopecia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:507423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:54539003 {source="MONDO:equivalentTo"}
xref: UMLS:C0002176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507423"}
is_a: MONDO:0004907 {source="MONDO:Redundant"} ! alopecia
intersection_of: MONDO:0004907 ! alopecia
intersection_of: disease_has_basis_in_disruption_of GO:0009755 ! hormone-mediated signaling pathway

[Term]
id: MONDO:0021209
name: heart neoplasm
def: "A neoplasm (disease) that involves the heart." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "Cardiac neoplasm" EXACT [NCIT:C3081]
synonym: "Cardiac neoplasms" EXACT [NCIT:C3081]
synonym: "Cardiac tumor" EXACT [NCIT:C3081]
synonym: "Cardiac tumour" EXACT OMO:0003005 []
synonym: "heart neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "heart tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3081]
synonym: "heart tumour" EXACT OMO:0003005 []
synonym: "Intracavitary tumors" RELATED [GARD:0002619]
synonym: "Intracavitary tumours" RELATED OMO:0003005 []
synonym: "myocardial tumors (rhabdomyomas and fibromas)" RELATED [GARD:0002619]
synonym: "myocardial tumours (rhabdomyomas and fibromas)" RELATED OMO:0003005 []
synonym: "neoplasm of heart" EXACT [MONDO:patterns/neoplasm, NCIT:C3081]
synonym: "neoplasm of the heart" EXACT [NCIT:C3081]
synonym: "primary cardiac tumors, childhood" RELATED [GARD:0002619]
synonym: "tumor of heart" EXACT [MONDO:patterns/neoplasm, NCIT:C3081]
synonym: "tumor of the heart" EXACT [NCIT:C3081]
synonym: "tumour of heart" EXACT OMO:0003005 []
synonym: "tumour of the heart" EXACT OMO:0003005 []
xref: EFO:1001339 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:9172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100061 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200236 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3081 {source="MONDO:equivalentTo"}
xref: UMLS:C0018809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9172"}
is_a: MONDO:0005267 {source="MONDO:Redundant", source="NCIT:C3081"} ! heart disorder
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3081"} ! neoplasm of thorax
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0021210
name: trachea neoplasm
def: "A neoplasm (disease) that involves the trachea." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the trachea" EXACT [NCIT:C3419]
synonym: "neoplasm of trachea" EXACT [MONDO:patterns/neoplasm, NCIT:C3419]
synonym: "trachea neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "trachea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3419]
synonym: "trachea tumour" EXACT OMO:0003005 []
synonym: "tracheal neoplasm" EXACT [NCIT:C3419]
synonym: "tracheal tumor" EXACT [NCIT:C3419]
synonym: "tracheal tumour" EXACT OMO:0003005 []
synonym: "tumor of the trachea" EXACT [NCIT:C3419]
synonym: "tumor of trachea" EXACT [MONDO:patterns/neoplasm, NCIT:C3419]
synonym: "tumour of the trachea" EXACT OMO:0003005 []
synonym: "tumour of trachea" EXACT OMO:0003005 []
xref: EFO:1001437 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GTR:AN0481062 {source="UMLS:C0040582"}
xref: GTR:AN0505660 {source="UMLS:C0040582"}
xref: HP:0100551 {xref="UMLS:C0040582", source="UMLS:C0040582"}
xref: MEDGEN:21602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014134 {source="MONDO:equivalentTo", source="UMLS:C0040582"}
xref: NCIT:C3419 {source="MONDO:equivalentTo", source="UMLS:C0040582"}
xref: SCTID:126703006 {source="UMLS:C0040582"}
xref: UMLS:C0040582 {source="MEDGEN:21602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002567 {source="MONDO:Redundant", source="NCIT:C3419"} ! tracheal disorder
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3419/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0021211
name: brain neoplasm
def: "A neoplasm (disease) that involves the brain." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "brain neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "brain neoplasms" EXACT [NCIT:C2907]
synonym: "brain tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2907]
synonym: "brain tumour" EXACT OMO:0003005 []
synonym: "neoplasm of brain" EXACT [MONDO:patterns/neoplasm, NCIT:C2907]
synonym: "neoplasm of the brain" EXACT [NCIT:C2907]
synonym: "tumor of brain" EXACT [MONDO:patterns/neoplasm, NCIT:C2907]
synonym: "tumor of the Brain" EXACT [NCIT:C2907]
synonym: "tumour of brain" EXACT OMO:0003005 []
synonym: "tumour of the Brain" EXACT OMO:0003005 []
xref: EFO:0003833 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:14216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2907 {source="MONDO:equivalentTo"}
xref: UMLS:C0006118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14216"}
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C2907/inferred"} ! central nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0021218
name: placenta neoplasm
def: "A neoplasm (disease) that involves the placenta." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of placenta" EXACT [MONDO:patterns/neoplasm, NCIT:C4858]
synonym: "neoplasm of the placenta" EXACT [NCIT:C4858]
synonym: "placenta neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "placenta neoplasms" EXACT [NCIT:C4858]
synonym: "placenta tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4858]
synonym: "placenta tumors" EXACT [NCIT:C4858]
synonym: "placenta tumour" EXACT OMO:0003005 []
synonym: "placenta tumours" EXACT OMO:0003005 []
synonym: "placental neoplasm" EXACT [NCIT:C4858]
synonym: "placental tumor" EXACT [NCIT:C4858]
synonym: "placental tumors" EXACT [NCIT:C4858]
synonym: "placental tumour" EXACT OMO:0003005 []
synonym: "placental tumours" EXACT OMO:0003005 []
synonym: "trophoblastic tumor placental site" RELATED [GARD:0007403]
synonym: "trophoblastic tumour placental site" RELATED OMO:0003005 []
synonym: "tumor of placenta" EXACT [MONDO:patterns/neoplasm, NCIT:C4858]
synonym: "tumor of the placenta" EXACT [NCIT:C4858]
synonym: "tumour of placenta" EXACT OMO:0003005 []
synonym: "tumour of the placenta" EXACT OMO:0003005 []
xref: MEDGEN:105551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4858 {source="MONDO:equivalentTo"}
xref: UMLS:C0524541 {source="MEDGEN:105551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005917 {source="MONDO:Redundant", source="NCIT:C4858"} ! placenta disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001987 ! placenta

[Term]
id: MONDO:0021220
name: eye neoplasm
def: "A neoplasm (disease) that involves the eye." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "eye neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "eye tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3030]
synonym: "eye tumour" EXACT OMO:0003005 []
synonym: "eyeball of camera-type eye neoplasm" EXACT []
synonym: "eyeball of camera-type eye tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "eyeball of camera-type eye tumour" EXACT OMO:0003005 []
synonym: "neoplasm of eye" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the eye" EXACT [NCIT:C3030]
synonym: "ocular neoplasm" EXACT [NCIT:C3030]
synonym: "ocular tumor" EXACT [NCIT:C3030]
synonym: "ocular tumour" EXACT OMO:0003005 []
synonym: "tumor of eye" EXACT [MONDO:patterns/neoplasm, NCIT:C3030]
synonym: "tumor of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the eye" EXACT [NCIT:C3030]
synonym: "tumour of eye" EXACT OMO:0003005 []
synonym: "tumour of eyeball of camera-type eye" EXACT OMO:0003005 []
synonym: "tumour of the eye" EXACT OMO:0003005 []
xref: EFO:0003824 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C69-C72 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:5095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12401 {source="ONCOTREE:EYE"}
xref: NCIT:C3030 {source="MONDO:equivalentTo"}
xref: ONCOTREE:EYE {source="MONDO:equivalentTo"}
xref: UMLS:C0015414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5095"}
is_a: MONDO:0005328 {source="MONDO:Redundant", source="NCIT:C3030"} ! eye disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0021221
name: vestibulocochlear nerve neoplasm
def: "A neoplasm (disease) that involves the vestibulocochlear nerve." [MONDO:patterns/location]
synonym: "acoustic nerve neoplasm" EXACT [NCIT:C5120]
synonym: "acoustic nerve tumor" EXACT [NCIT:C5120]
synonym: "acoustic nerve tumour" EXACT OMO:0003005 []
synonym: "cranial nerve eight neoplasms" EXACT [NCIT:C5120]
synonym: "eighth cranial nerve neoplasm" EXACT [NCIT:C5120]
synonym: "eighth cranial nerve neoplasms" EXACT [NCIT:C5120]
synonym: "eighth cranial nerve tumor" EXACT [NCIT:C5120]
synonym: "eighth cranial nerve tumour" EXACT OMO:0003005 []
synonym: "neoplasm of acoustic nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of eighth cranial nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of the acoustic nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of the eighth cranial nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of the vestibulocochlear nerve" EXACT [NCIT:C5120]
synonym: "neoplasm of vestibulocochlear nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5120]
synonym: "tumor of acoustic nerve" EXACT [NCIT:C5120]
synonym: "tumor of eighth cranial nerve" EXACT [NCIT:C5120]
synonym: "tumor of the acoustic nerve" EXACT [NCIT:C5120]
synonym: "tumor of the eighth cranial nerve" EXACT [NCIT:C5120]
synonym: "tumor of the vestibulocochlear nerve" EXACT [NCIT:C5120]
synonym: "tumor of vestibulocochlear nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5120]
synonym: "tumour of acoustic nerve" EXACT OMO:0003005 []
synonym: "tumour of eighth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the acoustic nerve" EXACT OMO:0003005 []
synonym: "tumour of the eighth cranial nerve" EXACT OMO:0003005 []
synonym: "tumour of the vestibulocochlear nerve" EXACT OMO:0003005 []
synonym: "tumour of vestibulocochlear nerve" EXACT OMO:0003005 []
synonym: "Vestibuloacoustic nerve neoplasms" EXACT [NCIT:C5120]
synonym: "vestibulocochlear nerve neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "vestibulocochlear nerve neoplasms" EXACT [NCIT:C5120]
synonym: "vestibulocochlear nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5120]
synonym: "vestibulocochlear nerve tumour" EXACT OMO:0003005 []
xref: MEDGEN:91099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5120 {source="MONDO:equivalentTo"}
xref: SCTID:387891008 {source="MONDO:equivalentTo"}
xref: UMLS:C0346330 {source="MEDGEN:91099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002633 {source="MONDO:Redundant", source="NCIT:C5120"} ! cranial nerve neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001648 ! vestibulocochlear nerve

[Term]
id: MONDO:0021222
name: lacrimal gland neoplasm
def: "A neoplasm (disease) that involves the lacrimal gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "lacrimal gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lacrimal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4360]
synonym: "lacrimal gland tumour" EXACT OMO:0003005 []
synonym: "neoplasm of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360]
synonym: "neoplasm of the lacrimal gland" EXACT [NCIT:C4360]
synonym: "tumor of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360]
synonym: "tumor of the lacrimal gland" EXACT [NCIT:C4360]
synonym: "tumour of lacrimal gland" EXACT OMO:0003005 []
synonym: "tumour of the lacrimal gland" EXACT OMO:0003005 []
xref: MEDGEN:83280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4360 {source="MONDO:equivalentTo"}
xref: UMLS:C0339124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83280"}
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4360/inferred"} ! eye neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0021223
name: digestive system neoplasm
def: "A neoplasm (disease) that involves the digestive system." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "digestive neoplasm" EXACT [NCIT:C3052]
synonym: "digestive system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "digestive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3052]
synonym: "digestive system tumour" EXACT OMO:0003005 []
synonym: "digestive tumor" EXACT [NCIT:C3052]
synonym: "digestive tumour" EXACT OMO:0003005 []
synonym: "gastrointestinal neoplasm" EXACT [NCIT:C3052]
synonym: "gastrointestinal system neoplasm" EXACT [NCIT:C3052]
synonym: "gastrointestinal system tumor" EXACT [NCIT:C3052]
synonym: "gastrointestinal system tumour" EXACT OMO:0003005 []
synonym: "gastrointestinal tumor" EXACT [NCIT:C3052]
synonym: "gastrointestinal tumour" EXACT OMO:0003005 []
synonym: "GI neoplasm" EXACT [NCIT:C3052]
synonym: "GI system neoplasm" EXACT [NCIT:C3052]
synonym: "GI system tumor" EXACT [NCIT:C3052]
synonym: "GI system tumour" EXACT OMO:0003005 []
synonym: "GI tumor" EXACT [NCIT:C3052]
synonym: "GI tumour" EXACT OMO:0003005 []
synonym: "neoplasm of digestive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3052]
synonym: "neoplasm of gastrointestinal system" EXACT [NCIT:C3052]
synonym: "neoplasm of GI system" EXACT [NCIT:C3052]
synonym: "neoplasm of the digestive system" EXACT [NCIT:C3052]
synonym: "neoplasm of the gastrointestinal system" EXACT [NCIT:C3052]
synonym: "neoplasm of the GI system" EXACT [NCIT:C3052]
synonym: "tumor of digestive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3052]
synonym: "tumor of gastrointestinal system" EXACT [NCIT:C3052]
synonym: "tumor of GI system" EXACT [NCIT:C3052]
synonym: "tumor of the digestive system" EXACT [NCIT:C3052]
synonym: "tumor of the gastrointestinal system" EXACT [NCIT:C3052]
synonym: "tumor of the GI system" EXACT [NCIT:C3052]
synonym: "tumour of digestive system" EXACT OMO:0003005 []
synonym: "tumour of gastrointestinal system" EXACT OMO:0003005 []
synonym: "tumour of GI system" EXACT OMO:0003005 []
synonym: "tumour of the digestive system" EXACT OMO:0003005 []
synonym: "tumour of the gastrointestinal system" EXACT OMO:0003005 []
synonym: "tumour of the GI system" EXACT OMO:0003005 []
xref: EFO:0008549 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C15-C26 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:4846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005770 {source="MONDO:equivalentTo"}
xref: NCIT:C3052 {source="MONDO:equivalentTo"}
xref: UMLS:C0017185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4846"}
is_a: MONDO:0005070 {source="EFO:0008549", source="MESH:D005770/inferred", source="MONDO:Redundant", source="NCIT:C3052/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001007 ! digestive system

[Term]
id: MONDO:0021224
name: iris neoplasm
def: "A neoplasm (disease) that involves the iris." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "iris neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "iris tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3142]
synonym: "iris tumour" EXACT OMO:0003005 []
synonym: "neoplasm of iris" EXACT [MONDO:patterns/neoplasm, NCIT:C3142]
synonym: "neoplasm of the iris" EXACT [NCIT:C3142]
synonym: "tumor of iris" EXACT [MONDO:patterns/neoplasm, NCIT:C3142]
synonym: "tumor of the iris" EXACT [NCIT:C3142]
synonym: "tumour of iris" EXACT OMO:0003005 []
synonym: "tumour of the iris" EXACT OMO:0003005 []
xref: MEDGEN:7159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015811 {source="MONDO:equivalentTo"}
xref: NCIT:C3142 {source="MONDO:equivalentTo"}
xref: UMLS:C0022079 {source="MEDGEN:7159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C3142"} ! uvea neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001769 ! iris

[Term]
id: MONDO:0021225
name: uvea neoplasm
def: "A neoplasm (disease) that involves the uvea." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the uvea" EXACT [NCIT:C3436]
synonym: "neoplasm of uvea" EXACT [MONDO:patterns/neoplasm, NCIT:C3436]
synonym: "tumor of the uvea" EXACT [NCIT:C3436]
synonym: "tumor of uvea" EXACT [MONDO:patterns/neoplasm, NCIT:C3436]
synonym: "tumour of the uvea" EXACT OMO:0003005 []
synonym: "tumour of uvea" EXACT OMO:0003005 []
synonym: "uvea neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "uvea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3436]
synonym: "uvea tumour" EXACT OMO:0003005 []
synonym: "uveal neoplasm" EXACT [NCIT:C3436]
synonym: "uveal tumor" EXACT [NCIT:C3436]
synonym: "uveal tumour" EXACT OMO:0003005 []
xref: MEDGEN:52960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3436 {source="MONDO:equivalentTo"}
xref: UMLS:C0042162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52960"}
is_a: MONDO:0002661 {source="MONDO:Redundant", source="NCIT:C3436"} ! uveal disorder
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C3436"} ! eye neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001768 ! uvea

[Term]
id: MONDO:0021227
name: adrenal gland neoplasm
def: "A neoplasm (disease) that involves the adrenal gland." [MONDO:patterns/location]
subset: disease_grouping
subset: gard_rare {source="GARD:19765", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:100091"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "adrenal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2859]
synonym: "adrenal gland tumour" EXACT OMO:0003005 []
synonym: "adrenal neoplasm" EXACT [NCIT:C2859]
synonym: "adrenal neoplasms" EXACT [NCIT:C2859]
synonym: "adrenal tumor" EXACT [NCIT:C2859]
synonym: "adrenal tumour" EXACT OMO:0003005 []
synonym: "adrenal/paraganglial tumor" RELATED []
synonym: "adrenal/paraganglial tumour" RELATED OMO:0003005 []
synonym: "ADRENALGLAND" RELATED ABBREVIATION [ONCOTREE:ADRENALGLAND]
synonym: "neoplasm of adrenal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C2859]
synonym: "neoplasm of the adrenal gland" EXACT [NCIT:C2859]
synonym: "tumor of adrenal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C2859]
synonym: "tumor of the adrenal gland" EXACT [NCIT:C2859]
synonym: "tumour of adrenal gland" EXACT OMO:0003005 []
synonym: "tumour of the adrenal gland" EXACT OMO:0003005 []
xref: EFO:0003850 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:19765 {source="MONDO:GARD"}
xref: MEDGEN:1352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12666 {source="ONCOTREE:ADRENALGLAND"}
xref: NCIT:C2859 {source="MONDO:equivalentTo"}
xref: ONCOTREE:ADRENALGLAND {source="MONDO:equivalentTo"}
xref: Orphanet:100091 {source="MONDO:equivalentTo"}
xref: UMLS:C0001624 {source="MEDGEN:1352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002082 {source="Orphanet:100091"} ! endocrine gland neoplasm
is_a: MONDO:0005495 {source="MONDO:Redundant", source="NCIT:C2859", source="Orphanet:100091"} ! adrenal gland disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002369 ! adrenal gland
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0021228
name: brainstem neoplasm
def: "A neoplasm (disease) that involves the brainstem." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "Brain stem neoplasm" EXACT [NCIT:C4869]
synonym: "brain stem tumor" EXACT [NCIT:C4869]
synonym: "brain stem tumour" EXACT OMO:0003005 []
synonym: "brainstem neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "brainstem tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4869]
synonym: "brainstem tumour" EXACT OMO:0003005 []
synonym: "neoplasm of brain stem" EXACT [NCIT:C4869]
synonym: "neoplasm of brainstem" EXACT [MONDO:patterns/neoplasm, NCIT:C4869]
synonym: "neoplasm of the brain stem" EXACT [NCIT:C4869]
synonym: "neoplasm of the brainstem" EXACT [NCIT:C4869]
synonym: "tumor of brain stem" EXACT [NCIT:C4869]
synonym: "tumor of brainstem" EXACT [MONDO:patterns/neoplasm, NCIT:C4869]
synonym: "tumor of the brain stem" EXACT [NCIT:C4869]
synonym: "tumor of the brainstem" EXACT [NCIT:C4869]
synonym: "tumour of brain stem" EXACT OMO:0003005 []
synonym: "tumour of brainstem" EXACT OMO:0003005 []
synonym: "tumour of the brain stem" EXACT OMO:0003005 []
synonym: "tumour of the brainstem" EXACT OMO:0003005 []
xref: EFO:1001767 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:146207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4869 {source="MONDO:equivalentTo"}
xref: Orphanet:36414 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0677866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146207"}
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C4869/inferred"} ! brain neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002298 ! brainstem

[Term]
id: MONDO:0021229
name: ciliary body neoplasm
def: "A neoplasm (disease) that involves the ciliary body." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "ciliary body neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "ciliary body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4364]
synonym: "ciliary body tumour" EXACT OMO:0003005 []
synonym: "neoplasm of ciliary body" EXACT [MONDO:patterns/neoplasm, NCIT:C4364]
synonym: "neoplasm of the ciliary body" EXACT [NCIT:C4364]
synonym: "tumor of ciliary body" EXACT [MONDO:patterns/neoplasm, NCIT:C4364]
synonym: "tumor of the ciliary body" EXACT [NCIT:C4364]
synonym: "tumour of ciliary body" EXACT OMO:0003005 []
synonym: "tumour of the ciliary body" EXACT OMO:0003005 []
xref: MEDGEN:137916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4364 {source="MONDO:equivalentTo"}
xref: UMLS:C0339349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137916"}
is_a: MONDO:0002970 {source="MONDO:Redundant", source="NCIT:C4364"} ! ciliary body disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0021230
name: uterine cervix neoplasm
def: "A neoplasm (disease) that involves the uterine cervix." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "Cervical neoplasm" EXACT [NCIT:C2940]
synonym: "cervical tumor" EXACT [NCIT:C2940]
synonym: "cervical tumour" EXACT OMO:0003005 []
synonym: "cervix" RELATED [ONCOTREE:CERVIX]
synonym: "cervix neoplasm" EXACT [NCIT:C2940]
synonym: "cervix tumor" EXACT [NCIT:C2940]
synonym: "cervix tumour" EXACT OMO:0003005 []
synonym: "cervix uteri neoplasm" EXACT [NCIT:C2940]
synonym: "cervix uteri tumor" EXACT [NCIT:C2940]
synonym: "cervix uteri tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cervix" EXACT [NCIT:C2940]
synonym: "neoplasm of cervix uteri" EXACT [NCIT:C2940]
synonym: "neoplasm of the cervix" EXACT [NCIT:C2940]
synonym: "neoplasm of the cervix uteri" EXACT [NCIT:C2940]
synonym: "neoplasm of the uterine cervix" EXACT [NCIT:C2940]
synonym: "neoplasm of uterine cervix" EXACT [MONDO:patterns/neoplasm, NCIT:C2940]
synonym: "tumor of cervix" EXACT [NCIT:C2940]
synonym: "tumor of cervix uteri" EXACT [NCIT:C2940]
synonym: "tumor of the cervix" EXACT [NCIT:C2940]
synonym: "tumor of the cervix uteri" EXACT [NCIT:C2940]
synonym: "tumor of the uterine cervix" EXACT [NCIT:C2940]
synonym: "tumor of uterine cervix" EXACT [MONDO:patterns/neoplasm, NCIT:C2940]
synonym: "tumour of cervix" EXACT OMO:0003005 []
synonym: "tumour of cervix uteri" EXACT OMO:0003005 []
synonym: "tumour of the cervix" EXACT OMO:0003005 []
synonym: "tumour of the cervix uteri" EXACT OMO:0003005 []
synonym: "tumour of the uterine cervix" EXACT OMO:0003005 []
synonym: "tumour of uterine cervix" EXACT OMO:0003005 []
synonym: "uterine cervix neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "uterine cervix tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2940]
synonym: "uterine cervix tumour" EXACT OMO:0003005 []
xref: MEDGEN:40201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12311 {source="ONCOTREE:CERVIX"}
xref: NCIT:C2940 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CERVIX {source="MONDO:equivalentTo"}
xref: UMLS:C0007873 {source="MEDGEN:40201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C2940"} ! tumor of uterus
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0021231
name: retina neoplasm
def: "A neoplasm (disease) that involves the retina." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of retina" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the retina" EXACT [NCIT:C4800]
synonym: "retina neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "retina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4800]
synonym: "retina tumour" EXACT OMO:0003005 []
synonym: "retinal neoplasm" EXACT [NCIT:C4800]
synonym: "retinal tumor" EXACT [NCIT:C4800]
synonym: "retinal tumour" EXACT OMO:0003005 []
synonym: "tumor of retina" EXACT [MONDO:patterns/neoplasm, NCIT:C4800]
synonym: "tumor of the retina" EXACT [NCIT:C4800]
synonym: "tumour of retina" EXACT OMO:0003005 []
synonym: "tumour of the retina" EXACT OMO:0003005 []
xref: EFO:1000509 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:101180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4800 {source="MONDO:equivalentTo"}
xref: UMLS:C0524801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101180"}
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4800"} ! eye neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0021232
name: pineal body neoplasm
def: "A neoplasm (disease) that involves the pineal body." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of pineal area" EXACT [NCIT:C3328]
synonym: "neoplasm of pineal body" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of pineal region" EXACT [NCIT:C3328]
synonym: "neoplasm of the pineal area" EXACT [NCIT:C3328]
synonym: "neoplasm of the pineal region" EXACT [NCIT:C3328]
synonym: "pineal area neoplasm" EXACT [NCIT:C3328]
synonym: "pineal area tumor" EXACT [NCIT:C3328]
synonym: "pineal area tumour" EXACT OMO:0003005 []
synonym: "pineal body neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pineal body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3328]
synonym: "pineal body tumour" EXACT OMO:0003005 []
synonym: "pineal neoplasm" EXACT [NCIT:C3328]
synonym: "pineal region neoplasm" EXACT [NCIT:C3328]
synonym: "pineal region tumor" EXACT [NCIT:C3328]
synonym: "pineal region tumour" EXACT OMO:0003005 []
synonym: "pineal tumor" EXACT [NCIT:C3328]
synonym: "pineal tumour" EXACT OMO:0003005 []
synonym: "pinealoma" EXACT [NCIT:C3328]
synonym: "tumor of pineal area" EXACT [NCIT:C3328]
synonym: "tumor of pineal body" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of pineal region" EXACT [NCIT:C3328]
synonym: "tumor of the pineal area" EXACT [NCIT:C3328]
synonym: "tumor of the pineal region" EXACT [NCIT:C3328]
synonym: "tumour of pineal area" EXACT OMO:0003005 []
synonym: "tumour of pineal body" EXACT OMO:0003005 []
synonym: "tumour of pineal region" EXACT OMO:0003005 []
synonym: "tumour of the pineal area" EXACT OMO:0003005 []
synonym: "tumour of the pineal region" EXACT OMO:0003005 []
xref: MEDGEN:237252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3328 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PINT {source="MONDO:equivalentTo"}
xref: UMLS:C1412004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237252"}
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C3328/inferred"} ! brain neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001905 ! pineal body

[Term]
id: MONDO:0021233
name: ear neoplasm
def: "A neoplasm (disease) that involves the ear." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "ear neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "Ear neoplasms" EXACT [NCIT:C3000]
synonym: "Ear tumor" EXACT [NCIT:C3000]
synonym: "ear tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "Ear tumour" EXACT OMO:0003005 []
synonym: "ear tumour" EXACT OMO:0003005 []
synonym: "neoplasm of Ear" EXACT [NCIT:C3000]
synonym: "neoplasm of ear" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Ear" EXACT [NCIT:C3000]
synonym: "tumor of Ear" EXACT [NCIT:C3000]
synonym: "tumor of ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Ear" EXACT [NCIT:C3000]
synonym: "tumour of Ear" EXACT OMO:0003005 []
synonym: "tumour of ear" EXACT OMO:0003005 []
synonym: "tumour of the Ear" EXACT OMO:0003005 []
xref: MEDGEN:4431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3000 {source="MONDO:equivalentTo"}
xref: UMLS:C0013449 {source="MEDGEN:4431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3000"} ! head and neck neoplasm
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C3000"} ! disorder of ear
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001690 ! ear

[Term]
id: MONDO:0021234
name: spinal cord neoplasm
def: "A neoplasm (disease) that involves the spinal cord." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of spinal cord" EXACT [MONDO:patterns/neoplasm, NCIT:C3381]
synonym: "neoplasm of the spinal cord" EXACT [NCIT:C3381]
synonym: "spinal cord neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "spinal cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3381]
synonym: "spinal cord tumour" EXACT OMO:0003005 []
synonym: "tumor of spinal cord" EXACT [MONDO:patterns/neoplasm, NCIT:C3381]
synonym: "tumor of the spinal cord" EXACT [NCIT:C3381]
synonym: "tumour of spinal cord" EXACT OMO:0003005 []
synonym: "tumour of the spinal cord" EXACT OMO:0003005 []
xref: EFO:0003828 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:11551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013120 {source="MONDO:equivalentTo"}
xref: NCIT:C3381 {source="MONDO:equivalentTo"}
xref: UMLS:C0037930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11551"}
is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C3381/inferred"} ! central nervous system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0021235
name: external ear neoplasm
def: "A neoplasm (disease) that involves the external ear." [MONDO:patterns/location]
synonym: "external ear neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "external Ear tumor" EXACT [NCIT:C4652]
synonym: "external ear tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "external Ear tumour" EXACT OMO:0003005 []
synonym: "external ear tumour" EXACT OMO:0003005 []
synonym: "neoplasm of external Ear" EXACT [NCIT:C4652]
synonym: "neoplasm of external ear" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the external Ear" EXACT [NCIT:C4652]
synonym: "tumor of external Ear" EXACT [NCIT:C4652]
synonym: "tumor of external ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the external Ear" EXACT [NCIT:C4652]
synonym: "tumour of external Ear" EXACT OMO:0003005 []
synonym: "tumour of external ear" EXACT OMO:0003005 []
synonym: "tumour of the external Ear" EXACT OMO:0003005 []
xref: MEDGEN:87606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4652 {source="MONDO:equivalentTo"}
xref: SCTID:277155005 {source="MONDO:equivalentTo"}
xref: UMLS:C0349575 {source="MONDO:equivalentTo", source="MEDGEN:87606", source="MONDO:MEDGEN"}
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C4652"} ! ear neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001691 ! external ear

[Term]
id: MONDO:0021237
name: adrenal medulla neoplasm
def: "A neoplasm (disease) that involves the adrenal medulla." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal medulla neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "adrenal medulla tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "adrenal medulla tumour" EXACT OMO:0003005 []
synonym: "neoplasm of adrenal medulla" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of adrenal medulla" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of adrenal medulla" EXACT OMO:0003005 []
xref: MEDGEN:108572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4856 {source="MONDO:equivalentTo"}
xref: UMLS:C0596046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108572"}
is_a: MONDO:0021227 {source="MONDO:Redundant", source="NCIT:C4856"} ! adrenal gland neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001236 ! adrenal medulla

[Term]
id: MONDO:0021238
name: cornea neoplasm
def: "A neoplasm (disease) that involves the cornea." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cornea neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "cornea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4361]
synonym: "cornea tumour" EXACT OMO:0003005 []
synonym: "corneal neoplasm" EXACT [NCIT:C4361]
synonym: "corneal tumor" EXACT [NCIT:C4361]
synonym: "corneal tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cornea" EXACT [MONDO:patterns/neoplasm, NCIT:C4361]
synonym: "neoplasm of the cornea" EXACT [NCIT:C4361]
synonym: "tumor of cornea" EXACT [MONDO:patterns/neoplasm, NCIT:C4361]
synonym: "tumor of the cornea" EXACT [NCIT:C4361]
synonym: "tumour of cornea" EXACT OMO:0003005 []
synonym: "tumour of the cornea" EXACT OMO:0003005 []
xref: MEDGEN:90940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4361 {source="MONDO:equivalentTo"}
xref: UMLS:C0339304 {source="MEDGEN:90940", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="MONDO:Redundant", source="NCIT:C4361"} ! corneal disorder
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4361"} ! eye neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0021239
name: urethra neoplasm
def: "A neoplasm (disease) that involves the urethra." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the urethra" EXACT [NCIT:C3428]
synonym: "neoplasm of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428]
synonym: "neoplasms. urethra" EXACT [NCIT:C3428]
synonym: "tumor of the urethra" EXACT [NCIT:C3428]
synonym: "tumor of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428]
synonym: "tumors. urethra" EXACT [NCIT:C3428]
synonym: "tumour of the urethra" EXACT OMO:0003005 []
synonym: "tumour of urethra" EXACT OMO:0003005 []
synonym: "urethra neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "urethra neoplasms" EXACT [NCIT:C3428]
synonym: "urethra tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3428]
synonym: "urethra tumors" EXACT [NCIT:C3428]
synonym: "urethra tumour" EXACT OMO:0003005 []
synonym: "urethra tumours" EXACT OMO:0003005 []
synonym: "urethral neoplasm" EXACT [NCIT:C3428]
synonym: "urethral neoplasms" EXACT [NCIT:C3428]
synonym: "urethral tumor" EXACT [NCIT:C3428]
synonym: "urethral tumors" EXACT [NCIT:C3428]
synonym: "urethral tumour" EXACT OMO:0003005 []
synonym: "urethral tumours" EXACT OMO:0003005 []
xref: EFO:0003846 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:12014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3428 {source="MONDO:equivalentTo"}
xref: UMLS:C0041971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12014"}
is_a: MONDO:0004184 {source="MONDO:Redundant", source="NCIT:C3428"} ! urethral disorder
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3428"} ! urinary system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0021240
name: tongue neoplasm
def: "A neoplasm (disease) that involves the tongue." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the tongue" EXACT [NCIT:C3416]
synonym: "neoplasm of tongue" EXACT [MONDO:patterns/neoplasm, NCIT:C3416]
synonym: "tongue neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "tongue tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3416]
synonym: "tongue tumour" EXACT OMO:0003005 []
synonym: "tumor of the tongue" EXACT [NCIT:C3416]
synonym: "tumor of tongue" EXACT [MONDO:patterns/neoplasm, NCIT:C3416]
synonym: "tumour of the tongue" EXACT OMO:0003005 []
synonym: "tumour of tongue" EXACT OMO:0003005 []
xref: EFO:0003871 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:52778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3416 {source="MONDO:equivalentTo"}
xref: SCTID:126778001 {source="MONDO:equivalentTo"}
xref: UMLS:C0040411 {source="MEDGEN:52778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3416/inferred"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001723 ! tongue

[Term]
id: MONDO:0021241
name: buccal mucosa neoplasm
def: "A neoplasm (disease) that involves the buccal mucosa." [MONDO:patterns/location]
synonym: "buccal mucosa neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "buccal mucosa tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4405]
synonym: "buccal mucosa tumour" EXACT OMO:0003005 []
synonym: "neoplasm of buccal mucosa" EXACT [MONDO:patterns/neoplasm, NCIT:C4405]
synonym: "neoplasm of the buccal mucosa" EXACT [NCIT:C4405]
synonym: "tumor of buccal mucosa" EXACT [MONDO:patterns/neoplasm, NCIT:C4405]
synonym: "tumor of the buccal mucosa" EXACT [NCIT:C4405]
synonym: "tumour of buccal mucosa" EXACT OMO:0003005 []
synonym: "tumour of the buccal mucosa" EXACT OMO:0003005 []
xref: MEDGEN:138021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4405 {source="MONDO:equivalentTo"}
xref: SCTID:126802007 {source="MONDO:equivalentTo"}
xref: UMLS:C0345563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138021"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4405/inferred"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0006956 ! buccal mucosa

[Term]
id: MONDO:0021242
name: sublingual gland neoplasm
def: "A neoplasm (disease) that involves the sublingual gland." [MONDO:patterns/location]
synonym: "neoplasm of sublingual gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3392]
synonym: "neoplasm of the sublingual gland" EXACT [NCIT:C3392]
synonym: "sublingual gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sublingual gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3392]
synonym: "sublingual gland tumour" EXACT OMO:0003005 []
synonym: "tumor of sublingual gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3392]
synonym: "tumor of the sublingual gland" EXACT [NCIT:C3392]
synonym: "tumour of sublingual gland" EXACT OMO:0003005 []
synonym: "tumour of the sublingual gland" EXACT OMO:0003005 []
xref: MEDGEN:21371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013362 {source="MONDO:equivalentTo"}
xref: NCIT:C3392 {source="MONDO:equivalentTo"}
xref: SCTID:126790004 {source="MONDO:equivalentTo"}
xref: UMLS:C0038554 {source="MEDGEN:21371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3392"} ! neoplasm of major salivary gland
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001832 ! sublingual gland

[Term]
id: MONDO:0021243
name: parotid gland neoplasm
def: "A neoplasm (disease) that involves the parotid gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of parotid" EXACT [NCIT:C3314]
synonym: "neoplasm of parotid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3314]
synonym: "neoplasm of the parotid" EXACT [NCIT:C3314]
synonym: "neoplasm of the parotid gland" EXACT [NCIT:C3314]
synonym: "parotid gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "parotid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3314]
synonym: "parotid gland tumour" EXACT OMO:0003005 []
synonym: "parotid neoplasm" EXACT [NCIT:C3314]
synonym: "parotid tumor" EXACT [NCIT:C3314]
synonym: "parotid tumour" EXACT OMO:0003005 []
synonym: "tumor of parotid" EXACT [NCIT:C3314]
synonym: "tumor of parotid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3314]
synonym: "tumor of the parotid" EXACT [NCIT:C3314]
synonym: "tumor of the parotid gland" EXACT [NCIT:C3314]
synonym: "tumour of parotid" EXACT OMO:0003005 []
synonym: "tumour of parotid gland" EXACT OMO:0003005 []
synonym: "tumour of the parotid" EXACT OMO:0003005 []
synonym: "tumour of the parotid gland" EXACT OMO:0003005 []
xref: EFO:0003873 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:18313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3314 {source="MONDO:equivalentTo"}
xref: SCTID:126788000 {source="MONDO:equivalentTo"}
xref: UMLS:C0030581 {source="MEDGEN:18313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3314"} ! neoplasm of major salivary gland
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0021244
name: submandibular gland neoplasm
def: "A neoplasm (disease) that involves the submandibular gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of submandibular gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3393]
synonym: "neoplasm of the submandibular gland" EXACT [NCIT:C3393]
synonym: "submandibular gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "submandibular gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3393]
synonym: "submandibular gland tumour" EXACT OMO:0003005 []
synonym: "tumor of submandibular gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3393]
synonym: "tumor of the submandibular gland" EXACT [NCIT:C3393]
synonym: "tumour of submandibular gland" EXACT OMO:0003005 []
synonym: "tumour of the submandibular gland" EXACT OMO:0003005 []
xref: EFO:1001853 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:20986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013365 {source="MONDO:equivalentTo"}
xref: NCIT:C3393 {source="MONDO:equivalentTo"}
xref: SCTID:254464000 {source="MONDO:equivalentTo"}
xref: UMLS:C0038558 {source="MEDGEN:20986", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C3393"} ! neoplasm of major salivary gland
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001736 ! submandibular gland

[Term]
id: MONDO:0021245
name: oral cavity neoplasm
def: "A neoplasm (disease) that involves the oral cavity." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "mouth neoplasm" EXACT [NCIT:C7606]
synonym: "mouth tumor" EXACT [NCIT:C7606]
synonym: "mouth tumour" EXACT OMO:0003005 []
synonym: "neoplasm of oral cavity" EXACT [MONDO:patterns/neoplasm]
synonym: "oral cavity neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "oral cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7606]
synonym: "oral cavity tumour" EXACT OMO:0003005 []
synonym: "tumor of mouth" RELATED []
synonym: "tumor of oral cavity" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of mouth" RELATED OMO:0003005 []
synonym: "tumour of oral cavity" EXACT OMO:0003005 []
xref: EFO:0003868 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:7722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7606 {source="MONDO:equivalentTo"}
xref: SCTID:235075007 {source="MONDO:equivalentTo"}
xref: UMLS:C0026640 {source="MEDGEN:7722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C7606/inferred"} ! mouth disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000167 ! oral cavity

[Term]
id: MONDO:0021246
name: pharynx neoplasm
def: "A neoplasm (disease) that involves the pharynx." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of pharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3325]
synonym: "neoplasm of the pharynx" EXACT [NCIT:C3325]
synonym: "pharyngeal neoplasms" EXACT [NCIT:C3325]
synonym: "pharyngeal tumor" EXACT [NCIT:C3325]
synonym: "pharyngeal tumour" EXACT OMO:0003005 []
synonym: "pharynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pharynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3325]
synonym: "pharynx tumour" EXACT OMO:0003005 []
synonym: "tumor of pharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3325]
synonym: "tumor of the pharynx" EXACT [NCIT:C3325]
synonym: "tumour of pharynx" EXACT OMO:0003005 []
synonym: "tumour of the pharynx" EXACT OMO:0003005 []
xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:45844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3325 {source="MONDO:equivalentTo"}
xref: UMLS:C0031347 {source="MEDGEN:45844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0006562 ! pharynx

[Term]
id: MONDO:0021247
name: obsolete renal pelvis neoplasm
is_obsolete: true

[Term]
id: MONDO:0021248
name: nervous system neoplasm
def: "A neoplasm (disease) that involves the nervous system." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3268]
synonym: "neoplasm of the nervous system" EXACT [NCIT:C3268]
synonym: "nervous system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "nervous system neoplasms" EXACT [NCIT:C3268]
synonym: "nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3268]
synonym: "nervous system tumour" EXACT OMO:0003005 []
synonym: "tumor of nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3268]
synonym: "tumor of the nervous system" EXACT [NCIT:C3268]
synonym: "tumour of nervous system" EXACT OMO:0003005 []
synonym: "tumour of the nervous system" EXACT OMO:0003005 []
xref: MEDGEN:45046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3268 {source="MONDO:equivalentTo"}
xref: UMLS:C0027766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45046"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3268/inferred"} ! neoplasm
is_a: MONDO:0005071 {source="MONDO:Redundant", source="NCIT:C3268"} ! nervous system disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0021249
name: lip neoplasm
def: "A neoplasm (disease) that involves the lip." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "lip neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lip neoplasms" EXACT [NCIT:C3191]
synonym: "lip tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3191]
synonym: "lip tumour" EXACT OMO:0003005 []
synonym: "neoplasm of Lip" EXACT [NCIT:C3191]
synonym: "neoplasm of lip" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Lip" EXACT [NCIT:C3191]
synonym: "tumor of Lip" EXACT [NCIT:C3191]
synonym: "tumor of lip" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Lip" EXACT [NCIT:C3191]
synonym: "tumour of Lip" EXACT OMO:0003005 []
synonym: "tumour of lip" EXACT OMO:0003005 []
synonym: "tumour of the Lip" EXACT OMO:0003005 []
xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:9777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3191 {source="MONDO:equivalentTo"}
xref: SCTID:126770008 {source="MONDO:equivalentTo"}
xref: UMLS:C0023761 {source="MEDGEN:9777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004748 {source="MONDO:Redundant", source="NCIT:C3191"} ! lip disorder
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3191/inferred"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001833 ! lip

[Term]
id: MONDO:0021250
name: tonsil neoplasm
def: "A neoplasm (disease) that involves the tonsil." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the tonsil" EXACT [NCIT:C3417]
synonym: "neoplasm of tonsil" EXACT [MONDO:patterns/neoplasm, NCIT:C3417]
synonym: "tonsil neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "tonsil tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3417]
synonym: "tonsil tumour" EXACT OMO:0003005 []
synonym: "tonsillar neoplasm" EXACT [NCIT:C3417]
synonym: "tonsillar neoplasms" EXACT [NCIT:C3417]
synonym: "tonsillar tumor" EXACT [NCIT:C3417]
synonym: "tonsillar tumour" EXACT OMO:0003005 []
synonym: "tumor of the tonsil" EXACT [NCIT:C3417]
synonym: "tumor of tonsil" EXACT [MONDO:patterns/neoplasm, NCIT:C3417]
synonym: "tumour of the tonsil" EXACT OMO:0003005 []
synonym: "tumour of tonsil" EXACT OMO:0003005 []
xref: MEDGEN:21201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3417 {source="MONDO:equivalentTo"}
xref: SCTID:127227003 {source="MONDO:equivalentTo"}
xref: UMLS:C0040422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21201"}
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3417/inferred"} ! pharynx neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002372 ! tonsil

[Term]
id: MONDO:0021251
name: endometrium neoplasm
def: "A neoplasm (disease) that involves the endometrium." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "endometrial neoplasm" EXACT [NCIT:C3012]
synonym: "endometrial tumor" EXACT [NCIT:C3012]
synonym: "endometrial tumour" EXACT OMO:0003005 []
synonym: "endometrium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endometrium tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3012]
synonym: "endometrium tumour" EXACT OMO:0003005 []
synonym: "neoplasm of endometrium" EXACT [MONDO:patterns/neoplasm, NCIT:C3012]
synonym: "neoplasm of the endometrium" EXACT [NCIT:C3012]
synonym: "tumor of endometrium" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the endometrium" EXACT [NCIT:C3012]
synonym: "tumour of endometrium" EXACT OMO:0003005 []
synonym: "tumour of the endometrium" EXACT OMO:0003005 []
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016889 {source="MONDO:equivalentTo"}
xref: NCIT:C3012 {source="MONDO:equivalentTo"}
xref: SCTID:123844007 {source="MONDO:equivalentTo"}
xref: UMLS:C0014170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8619"}
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3012/inferred"} ! tumor of uterus
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0021252
name: obsolete lung hilum neoplasm
is_obsolete: true
replaced_by: MONDO:0003639

[Term]
id: MONDO:0021253
name: gallbladder neoplasm
def: "A neoplasm (disease) that involves the gall bladder." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "gall bladder neoplasm" EXACT []
synonym: "gall bladder neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "gall bladder tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "gall bladder tumour" EXACT OMO:0003005 []
synonym: "gallbladder tumor" EXACT [NCIT:C3048]
synonym: "gallbladder tumour" EXACT OMO:0003005 []
synonym: "neoplasm of gall bladder" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of gallbladder" EXACT [NCIT:C3048]
synonym: "neoplasm of the gallbladder" EXACT [NCIT:C3048]
synonym: "tumor of gall bladder" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of gallbladder" EXACT [NCIT:C3048]
synonym: "tumor of the gallbladder" EXACT [NCIT:C3048]
synonym: "tumour of gall bladder" EXACT OMO:0003005 []
synonym: "tumour of gallbladder" EXACT OMO:0003005 []
synonym: "tumour of the gallbladder" EXACT OMO:0003005 []
xref: EFO:0004606 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:42134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005706 {source="MONDO:equivalentTo"}
xref: NCIT:C3048 {source="MONDO:equivalentTo"}
xref: UMLS:C0016978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42134"}
is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C3048"} ! hepatobiliary neoplasm
is_a: MONDO:0005281 {source="MONDO:Redundant", source="NCIT:C3048"} ! gallbladder disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0021254
name: corpus uteri neoplasm
alt_id: MONDO:0021255
alt_id: MONDO:0021256
def: "A neoplasm (disease) that involves the body of uterus." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "body of uterus neoplasm" EXACT []
synonym: "body of uterus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "body of uterus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "body of uterus tumour" EXACT OMO:0003005 []
synonym: "corpus uteri tumor" EXACT [NCIT:C6300]
synonym: "corpus uteri tumour" EXACT OMO:0003005 []
synonym: "neoplasm of body of uterus" EXACT [MONDO:patterns/neoplasm, NCIT:C6300]
synonym: "neoplasm of corpus uteri" EXACT [NCIT:C6300]
synonym: "neoplasm of the body of uterus" EXACT [NCIT:C6300]
synonym: "neoplasm of the corpus uteri" EXACT [NCIT:C6300]
synonym: "neoplasm of the uterine body" EXACT [NCIT:C6300]
synonym: "neoplasm of the uterine corpus" EXACT [NCIT:C6300]
synonym: "neoplasm of uterine body" EXACT [NCIT:C6300]
synonym: "neoplasm of uterine corpus" EXACT [NCIT:C6300]
synonym: "tumor of body of uterus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of corpus uteri" EXACT [NCIT:C6300]
synonym: "tumor of the corpus uteri" EXACT [NCIT:C6300]
synonym: "tumor of the uterine body" EXACT [NCIT:C6300]
synonym: "tumor of the uterine corpus" EXACT [NCIT:C6300]
synonym: "tumor of uterine body" EXACT [NCIT:C6300]
synonym: "tumor of uterine corpus" EXACT [NCIT:C6300]
synonym: "tumour of body of uterus" EXACT OMO:0003005 []
synonym: "tumour of corpus uteri" EXACT OMO:0003005 []
synonym: "tumour of the corpus uteri" EXACT OMO:0003005 []
synonym: "tumour of the uterine body" EXACT OMO:0003005 []
synonym: "tumour of the uterine corpus" EXACT OMO:0003005 []
synonym: "tumour of uterine body" EXACT OMO:0003005 []
synonym: "tumour of uterine corpus" EXACT OMO:0003005 []
synonym: "uterine body neoplasm" EXACT [NCIT:C6300]
synonym: "uterine body tumor" EXACT [NCIT:C6300]
synonym: "uterine body tumour" EXACT OMO:0003005 []
synonym: "uterine corpus neoplasm" EXACT [NCIT:C6300]
synonym: "uterine corpus tumor" EXACT [NCIT:C6300]
synonym: "uterine corpus tumour" EXACT OMO:0003005 []
xref: MEDGEN:226810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6300 {source="MONDO:equivalentTo"}
xref: SCTID:126909004 {source="MONDO:equivalentTo"}
xref: UMLS:C1263777 {source="MONDO:equivalentTo", source="MEDGEN:226810", source="MONDO:MEDGEN"}
is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C6300"} ! tumor of uterus
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0021257
name: obsolete glomus jugulare neoplasm
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021064

[Term]
id: MONDO:0021258
name: choroid neoplasm
def: "A neoplasm (disease) that involves the optic choroid." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "choroid tumor" EXACT [NCIT:C2949]
synonym: "choroid tumour" EXACT OMO:0003005 []
synonym: "choroidal neoplasm" EXACT [NCIT:C2949]
synonym: "choroidal tumor" EXACT [NCIT:C2949]
synonym: "choroidal tumour" EXACT OMO:0003005 []
synonym: "neoplasm of choroid" EXACT [NCIT:C2949]
synonym: "neoplasm of optic choroid" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the choroid" EXACT [NCIT:C2949]
synonym: "optic choroid neoplasm" EXACT []
synonym: "optic choroid neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "optic choroid tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "optic choroid tumour" EXACT OMO:0003005 []
synonym: "tumor of choroid" EXACT [NCIT:C2949]
synonym: "tumor of optic choroid" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the choroid" EXACT [NCIT:C2949]
synonym: "tumour of choroid" EXACT OMO:0003005 []
synonym: "tumour of optic choroid" EXACT OMO:0003005 []
synonym: "tumour of the choroid" EXACT OMO:0003005 []
xref: MEDGEN:3059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2949 {source="MONDO:equivalentTo"}
xref: UMLS:C0008523 {source="MONDO:equivalentTo", source="MEDGEN:3059", source="MONDO:MEDGEN"}
is_a: MONDO:0001898 {source="MONDO:Redundant", source="NCIT:C2949"} ! optic choroid disorder
is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C2949"} ! uvea neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0021259
name: prostate neoplasm
def: "A neoplasm (disease) that involves the prostate gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of prostate" EXACT [NCIT:C3343]
synonym: "neoplasm of prostate gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the prostate" EXACT [NCIT:C3343]
synonym: "nodular prostate" RELATED []
synonym: "prostate gland neoplasm" EXACT []
synonym: "prostate gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "prostate gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "prostate gland tumour" EXACT OMO:0003005 []
synonym: "prostate nodule" RELATED []
synonym: "prostate tumor" EXACT [NCIT:C3343]
synonym: "prostate tumour" EXACT OMO:0003005 []
synonym: "tumor of prostate" EXACT [NCIT:C3343]
synonym: "tumor of prostate gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the prostate" EXACT [NCIT:C3343]
synonym: "tumour of prostate" EXACT OMO:0003005 []
synonym: "tumour of prostate gland" EXACT OMO:0003005 []
synonym: "tumour of the prostate" EXACT OMO:0003005 []
xref: DOID:13206 {source="MONDO:equivalentTo"}
xref: ICD10CM:N40 {source="DOID:13206"}
xref: ICD9:600.1 {source="DOID:13206"}
xref: MEDGEN:18697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12410 {source="ONCOTREE:PROSTATE"}
xref: NCIT:C3343 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PROSTATE {source="MONDO:equivalentTo"}
xref: UMLS:C0033578 {source="MONDO:equivalentTo", source="MEDGEN:18697", source="MONDO:MEDGEN"}
is_a: MONDO:0003105 {source="DOID:13206/inferred", source="MONDO:Redundant", source="NCIT:C3343"} ! prostate disorder
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C3343/inferred"} ! reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0021260
name: sensory ganglionopathy
def: "A disease or disorder that involves the sensory ganglion." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "disease of sensory ganglion" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sensory ganglion" EXACT []
synonym: "disorder of sensory ganglion" EXACT [MONDO:patterns/location_top]
synonym: "sensory ganglion disease" EXACT []
synonym: "sensory ganglion disease or disorder" EXACT [MONDO:patterns/location]
is_a: MONDO:0000001 {source="MONDO:Redundant", source="MONDO:indirect"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0001800 ! sensory ganglion
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0021271
name: villous adenoma of colon
def: "A villous adenoma that involves the colon." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "colon villous adenoma" EXACT [MONDO:patterns/location, NCIT:C3495]
synonym: "colonic villous adenoma" EXACT [NCIT:C3495]
synonym: "villous adenoma of the colon" EXACT [NCIT:C3495]
xref: MEDGEN:56207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3495 {source="MONDO:equivalentTo"}
xref: SCTID:309084001 {source="MONDO:equivalentTo"}
xref: UMLS:C0149862 {source="MEDGEN:56207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000502 {source="MONDO:Redundant", source="NCIT:C3495/inferred"} ! villous adenoma
is_a: MONDO:0000527 {source="MONDO:Redundant", source="NCIT:C3495"} ! colon adenoma
intersection_of: MONDO:0000502 ! villous adenoma
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0021272
name: inherited orthostatic hypotension
subset: gard_rare {source="GARD:21878", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:448426"}
subset: rare
xref: GARD:21878 {source="MONDO:GARD"}
xref: MEDGEN:1842591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:223360 {source="MONDO:equivalentTo"}
xref: Orphanet:448426 {source="MONDO:equivalentTo"}
xref: UMLS:C5681106 {source="MEDGEN:1842591", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015914 {source="https://orcid.org/0000-0002-6601-2165"} ! primary orthostatic hypotension
intersection_of: MONDO:0015914 ! primary orthostatic hypotension
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:223360"} ! inherited

[Term]
id: MONDO:0021273
name: leiomyoma of ciliary body
def: "A leiomyoma that involves the ciliary body." [MONDO:patterns/location]
synonym: "ciliary body leiomyoma" EXACT [MONDO:patterns/location, NCIT:C4560]
synonym: "leiomyoma of the ciliary body" EXACT [NCIT:C4560]
xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4560 {source="MONDO:equivalentTo"}
xref: SCTID:255020006 {source="MONDO:equivalentTo"}
xref: UMLS:C0346386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138063"}
is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C4560"} ! leiomyoma
is_a: MONDO:0021486 {source="MONDO:Redundant", source="NCIT:C4560"} ! benign neoplasm of ciliary body
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0021275
name: papilloma of eyelid
def: "A papilloma that involves the eyelid." [MONDO:patterns/location]
synonym: "eyelid papilloma" EXACT [MONDO:patterns/location, NCIT:C4061]
synonym: "papilloma of the eyelid" EXACT [NCIT:C4061]
xref: MEDGEN:256159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4061 {source="MONDO:equivalentTo"}
xref: SCTID:314515006 {source="MONDO:equivalentTo"}
xref: UMLS:C1142491 {source="MEDGEN:256159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C4061/inferred"} ! eyelid neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C4061/inferred"} ! benign neoplasm of eye
is_a: MONDO:0021605 {source="MONDO:Redundant", source="NCIT:C4061"} ! benign eyelid neoplasm
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0021276
name: papilloma of buccal mucosa
def: "A papilloma that involves the buccal mucosa." [MONDO:patterns/location]
synonym: "buccal mucosa papilloma" EXACT [MONDO:patterns/location, NCIT:C5819]
synonym: "papilloma of the buccal mucosa" EXACT [NCIT:C5819]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:231971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5819 {source="MONDO:equivalentTo"}
xref: SCTID:448147005 {source="MONDO:equivalentTo"}
xref: UMLS:C1332641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231971"}
is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C5819/inferred"} ! papilloma
is_a: MONDO:0021524 {source="MONDO:Redundant", source="NCIT:C5819"} ! benign neoplasm of buccal mucosa
intersection_of: MONDO:0002363 ! papilloma
intersection_of: disease_has_location UBERON:0006956 ! buccal mucosa

[Term]
id: MONDO:0021279
name: mucoepidermoid carcinoma of submandibular gland
def: "A mucoepidermoid carcinoma that involves the submandibular gland." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mucoepidermoid carcinoma of the submandibular gland" EXACT [NCIT:C5939]
synonym: "submandibular gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5939]
xref: MEDGEN:277774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5939 {source="MONDO:equivalentTo"}
xref: SCTID:423424005 {source="MONDO:equivalentTo"}
xref: UMLS:C1336524 {source="MEDGEN:277774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004724 {source="MONDO:Redundant", source="NCIT:C5939"} ! submandibular gland cancer
is_a: MONDO:0006286 {source="MONDO:Redundant", source="NCIT:C5939"} ! major salivary gland mucoepidermoid carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0001736 ! submandibular gland

[Term]
id: MONDO:0021280
name: mucoepidermoid carcinoma of parotid gland
def: "A mucoepidermoid carcinoma that involves the parotid gland." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mucoepidermoid carcinoma of parotid" EXACT [NCIT:C5938]
synonym: "mucoepidermoid carcinoma of the parotid" EXACT [NCIT:C5938]
synonym: "mucoepidermoid carcinoma of the parotid gland" EXACT [NCIT:C5938]
synonym: "parotid gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5938]
synonym: "parotid mucoepidermoid carcinoma" EXACT [NCIT:C5938]
xref: MEDGEN:277506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5938 {source="MONDO:equivalentTo"}
xref: SCTID:423793008 {source="MONDO:equivalentTo"}
xref: UMLS:C1335363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277506"}
is_a: MONDO:0006286 {source="MONDO:Redundant", source="NCIT:C5938"} ! major salivary gland mucoepidermoid carcinoma
is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5938"} ! carcinoma of parotid gland
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0021281
name: cavernous hemangioma of retina
def: "A cavernous hemangioma that involves the retina." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cavernous angioma of retina" EXACT [NCIT:C4921]
synonym: "cavernous angioma of the retina" EXACT [NCIT:C4921]
synonym: "cavernous hemangioma of the retina" EXACT [NCIT:C4921]
synonym: "retina cavernous angioma" EXACT [NCIT:C4921]
synonym: "retina cavernous hemangioma" EXACT [MONDO:patterns/location, NCIT:C4921]
synonym: "retinal cavernous angioma" EXACT [NCIT:C4921]
synonym: "retinal cavernous hemangioma" EXACT [NCIT:C4921]
xref: MEDGEN:152678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4921 {source="MONDO:equivalentTo"}
xref: SCTID:312937006 {source="MONDO:equivalentTo"}
xref: UMLS:C0730304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152678"}
is_a: MONDO:0021541 {source="MONDO:Redundant", source="NCIT:C4921"} ! hemangioma of retina
intersection_of: MONDO:0003155 ! cavernous hemangioma
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0021282
name: malignant teratoma of testis
def: "A malignant teratoma that involves the testis." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "immature teratoma of testis" EXACT [NCIT:C6353]
synonym: "immature teratoma of the testis" EXACT [NCIT:C6353]
synonym: "immature testicular teratoma" EXACT [NCIT:C6353]
synonym: "malignant teratoma of the testis" EXACT [NCIT:C6353]
synonym: "malignant testicular teratoma" EXACT [NCIT:C6353]
synonym: "testicular immature teratoma" EXACT [NCIT:C6353]
synonym: "testicular malignant teratoma" EXACT [NCIT:C6353]
synonym: "testis malignant teratoma" EXACT [MONDO:patterns/location]
xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:232636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6353 {source="MONDO:equivalentTo"}
xref: SCTID:416769008 {source="MONDO:equivalentTo"}
xref: UMLS:C1334154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232636"}
is_a: MONDO:0005447 {source="MONDO:Entailed"} ! testicular cancer
is_a: MONDO:0010108 {source="MONDO:Entailed", source="NCIT:C6353/inferred"} ! testicular germ cell tumor
intersection_of: MONDO:0003514 ! malignant teratoma
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0021283
name: malignant teratoma of mediastinum
def: "A malignant teratoma that involves the mediastinum." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "immature malignant teratoma of mediastinum" EXACT [NCIT:C4668]
synonym: "immature malignant teratoma of the mediastinum" EXACT [NCIT:C4668]
synonym: "malignant mediastinal teratoma" EXACT [NCIT:C4668]
synonym: "malignant teratoma of the mediastinum" EXACT [NCIT:C4668]
synonym: "mediastinal immature malignant teratoma" EXACT [NCIT:C4668]
synonym: "mediastinum malignant teratoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:91164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4668 {source="MONDO:equivalentTo"}
xref: SCTID:278042005 {source="MONDO:equivalentTo"}
xref: UMLS:C0349663 {source="MEDGEN:91164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006298 {source="MONDO:Redundant", source="NCIT:C4668"} ! mediastinal malignant germ cell tumor
intersection_of: MONDO:0003514 ! malignant teratoma
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0021284
name: carcinoma in situ of ureter
def: "A in situ carcinoma that involves the ureter." [MONDO:patterns/location]
synonym: "carcinoma in situ of the ureter" EXACT [NCIT:C4529]
synonym: "carcinoma in situ of ureter" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 ureter carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0is carcinoma of the ureter" EXACT [NCIT:C4529]
synonym: "stage 0is carcinoma of ureter" EXACT [NCIT:C4529]
synonym: "stage 0is ureter cancer" EXACT [NCIT:C4529]
synonym: "stage 0is ureter cancer aJCC v7" EXACT [NCIT:C4529]
synonym: "stage 0is ureter carcinoma" EXACT [NCIT:C4529]
synonym: "stage 0is ureter urothelial cancer" EXACT [NCIT:C4529]
synonym: "stage 0is ureter urothelial carcinoma" EXACT [NCIT:C4529]
synonym: "stage 0is ureter urothelial carcinoma aJCC v7" EXACT [NCIT:C4529]
synonym: "stage 0is ureteral carcinoma" EXACT [NCIT:C4529]
synonym: "ureter cancer stage 0is" EXACT [NCIT:C4529]
synonym: "ureter carcinoma in situ" EXACT [NCIT:C4529]
synonym: "ureter in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "ureteral carcinoma in situ" EXACT [NCIT:C4529]
xref: ICD9:233.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1660901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4529 {source="MONDO:equivalentTo"}
xref: SCTID:92782006 {source="MONDO:equivalentTo"}
xref: UMLS:C4721448 {source="MEDGEN:1660901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="MONDO:Redundant", source="NCIT:C4529/inferred"} ! in situ carcinoma
is_a: MONDO:0006481 {source="MONDO:Redundant", source="NCIT:C4529/inferred"} ! ureter carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0021285
name: carcinoma in situ of urethra
def: "A in situ carcinoma that involves the urethra." [MONDO:patterns/location]
synonym: "carcinoma in situ of the urethra" EXACT [NCIT:C4531]
synonym: "carcinoma in situ of urethra" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 urethra carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0is carcinoma of the urethra" EXACT [NCIT:C4531]
synonym: "stage 0is carcinoma of urethra" EXACT [NCIT:C4531]
synonym: "stage 0is urethra carcinoma" EXACT [NCIT:C4531]
synonym: "stage 0is urethral cancer" EXACT [NCIT:C4531]
synonym: "stage 0is urethral cancer aJCC v7" EXACT [NCIT:C4531]
synonym: "stage 0is urethral carcinoma" EXACT [NCIT:C4531]
synonym: "urethra carcinoma in situ" EXACT [NCIT:C4531]
synonym: "urethra in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "urethral carcinoma in situ" EXACT [NCIT:C4531]
xref: ICD9:233.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1661236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4531 {source="MONDO:equivalentTo"}
xref: SCTID:92784007 {source="MONDO:equivalentTo"}
xref: UMLS:C4721449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1661236"}
is_a: MONDO:0004647 {source="MONDO:Redundant", source="NCIT:C4531"} ! in situ carcinoma
is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C4531/inferred"} ! carcinoma of urethra
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0021287
name: carcinoma in situ of epiglottis
def: "A in situ carcinoma that involves the epiglottis." [MONDO:patterns/location]
synonym: "carcinoma in situ of epiglottis" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the Epiglottis" EXACT [NCIT:C4592]
synonym: "epiglottic carcinoma in situ" EXACT [NCIT:C4592]
synonym: "Epiglottis carcinoma in situ" EXACT [NCIT:C4592]
synonym: "epiglottis carcinoma in situ" EXACT []
synonym: "epiglottis in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 epiglottic carcinoma" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic carcinoma aJCC v6" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic carcinoma aJCC v6, v7, and v8" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic carcinoma aJCC v7" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic carcinoma aJCC v8" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottic throat cancer" EXACT [NCIT:C4592]
synonym: "stage 0 epiglottis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
xref: MEDGEN:87571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4592 {source="MONDO:equivalentTo"}
xref: SCTID:92584005 {source="MONDO:equivalentTo"}
xref: UMLS:C0347103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87571"}
is_a: MONDO:0004357 {source="MONDO:Entailed", source="NCIT:C4592/inferred"} ! carcinoma of supraglottis
is_a: MONDO:0004696 {source="MONDO:Redundant", source="NCIT:C4592/inferred"} ! larynx carcinoma in situ
is_a: MONDO:0021288 {source="MONDO:Redundant"} ! carcinoma in situ of hypopharynx
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000388 ! epiglottis

[Term]
id: MONDO:0021288
name: carcinoma in situ of hypopharynx
def: "A in situ carcinoma that involves the hypopharynx." [MONDO:patterns/location]
synonym: "carcinoma in situ of hypopharynx" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the hypopharynx" EXACT [NCIT:C9101]
synonym: "hypopharyngeal carcinoma in situ" EXACT [NCIT:C9101]
synonym: "hypopharynx carcinoma in situ" EXACT [NCIT:C9101]
synonym: "hypopharynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of hypopharynx" EXACT [NCIT:C9101]
synonym: "stage 0 carcinoma of the hypopharynx" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal cancer" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma aJCC v6" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma aJCC v7" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma aJCC v8" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal carcinoma in situ" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharyngeal throat cancer" EXACT [NCIT:C9101]
synonym: "stage 0 hypopharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9101]
xref: MEDGEN:138078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9101 {source="MONDO:equivalentTo"}
xref: SCTID:92612007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347100 {source="MEDGEN:138078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000372 {source="MONDO:Redundant", source="NCIT:C9101"} ! pharynx carcinoma in situ
is_a: MONDO:0005216 {source="MONDO:Redundant", source="NCIT:C9101/inferred"} ! hypopharyngeal carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001051 ! hypopharynx

[Term]
id: MONDO:0021289
name: carcinoma in situ of cecum
def: "A in situ carcinoma that involves the caecum." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "caecum carcinoma in situ" EXACT []
synonym: "caecum in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of caecum" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the cecum" EXACT [NCIT:C4594]
synonym: "cecum carcinoma in situ" EXACT [NCIT:C4594]
synonym: "cecum carcinoma in situ aJCC v6" EXACT [NCIT:C4594]
synonym: "cecum carcinoma in situ aJCC v7" EXACT [NCIT:C4594]
synonym: "stage 0 caecum carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 cecum carcinoma" EXACT [NCIT:C4594]
xref: MEDGEN:83854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4594 {source="MONDO:equivalentTo"}
xref: SCTID:92559007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347126 {source="MEDGEN:83854", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006029 {source="MONDO:Redundant", source="NCIT:C4594"} ! cecum carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0021290
name: carcinoma in situ of appendix
def: "A in situ carcinoma that involves the vermiform appendix." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma in situ of the appendix" EXACT [NCIT:C4593]
synonym: "carcinoma in situ of vermiform appendix" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 appendix cancer" EXACT [NCIT:C4593]
synonym: "stage 0 appendix carcinoma" EXACT [NCIT:C4593]
synonym: "stage 0 appendix carcinoma aJCC v7" EXACT [NCIT:C4593]
synonym: "stage 0 vermiform appendix carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "vermiform appendix carcinoma in situ" EXACT []
synonym: "vermiform appendix in situ carcinoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:83853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4593 {source="MONDO:equivalentTo"}
xref: SCTID:92539008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347125 {source="MEDGEN:83853", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003196 {source="MONDO:Redundant", source="NCIT:C4593/inferred"} ! appendix carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0021291
name: carcinoma in situ of fundus of stomach
def: "A in situ carcinoma that involves the fundus of stomach." [MONDO:patterns/location]
synonym: "carcinoma in situ of fundus of stomach" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of gastric fundus" EXACT [NCIT:C4429]
synonym: "carcinoma in situ of the fundus of the stomach" EXACT [NCIT:C4429]
synonym: "carcinoma in situ of the gastric fundus" EXACT [NCIT:C4429]
synonym: "fundus of stomach carcinoma in situ" EXACT []
synonym: "fundus of stomach in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "gastric fundus carcinoma in situ" EXACT [NCIT:C4429]
synonym: "gastric fundus carcinoma in situ aJCC v6 and v7" EXACT [NCIT:C4429]
synonym: "stage 0 fundus of stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 gastric fundus carcinoma" EXACT [NCIT:C4429]
xref: MEDGEN:91053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4429 {source="MONDO:equivalentTo"}
xref: SCTID:92598002 {source="MONDO:equivalentTo"}
xref: UMLS:C0345800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91053"}
is_a: MONDO:0003970 {source="MONDO:Redundant", source="NCIT:C4429"} ! gastric fundus carcinoma
is_a: MONDO:0004716 {source="MONDO:Redundant", source="NCIT:C4429"} ! stomach carcinoma in situ
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001160 ! fundus of stomach

[Term]
id: MONDO:0021292
name: carcinoma in situ of gastric body
def: "A in situ carcinoma that involves the body of stomach." [MONDO:patterns/location]
synonym: "body of stomach carcinoma in situ" EXACT []
synonym: "body of stomach in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "carcinoma in situ of body of stomach" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4430]
synonym: "carcinoma in situ of the body of the stomach" EXACT [NCIT:C4430]
synonym: "carcinoma in situ of the gastric body" EXACT [NCIT:C4430]
synonym: "gastric body carcinoma in situ" EXACT [NCIT:C4430]
synonym: "gastric body carcinoma in situ aJCC v6 and v7" EXACT [NCIT:C4430]
synonym: "stage 0 body of stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 gastric body carcinoma" EXACT [NCIT:C4430]
xref: MEDGEN:87516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4430 {source="MONDO:equivalentTo"}
xref: SCTID:92549006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345805 {source="MEDGEN:87516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003972 {source="MONDO:Redundant", source="NCIT:C4430"} ! gastric body carcinoma
is_a: MONDO:0004716 {source="MONDO:Redundant", source="NCIT:C4430"} ! stomach carcinoma in situ
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001161 ! body of stomach

[Term]
id: MONDO:0021294
name: carcinoma in situ of gastric cardia
def: "A in situ carcinoma that involves the cardia of stomach." [MONDO:patterns/location]
synonym: "carcinoma in situ of cardia of stomach" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4428]
synonym: "carcinoma in situ of the cardia of the stomach" EXACT [NCIT:C4428]
synonym: "carcinoma in situ of the gastric cardia" EXACT [NCIT:C4428]
synonym: "cardia of stomach carcinoma in situ" EXACT []
synonym: "cardia of stomach in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "gastric cardia carcinoma in situ" EXACT [NCIT:C4428]
synonym: "gastric cardia carcinoma in situ aJCC v6 and v7" EXACT [NCIT:C4428]
synonym: "stage 0 cardia of stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0 gastric cardia carcinoma" EXACT [NCIT:C4428]
xref: MEDGEN:91052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4428 {source="MONDO:equivalentTo"}
xref: SCTID:92560002 {source="MONDO:equivalentTo"}
xref: UMLS:C0345795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91052"}
is_a: MONDO:0003834 {source="MONDO:Redundant", source="NCIT:C4428"} ! gastric cardia carcinoma
is_a: MONDO:0004716 {source="MONDO:Redundant", source="NCIT:C4428"} ! stomach carcinoma in situ
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001162 ! cardia of stomach

[Term]
id: MONDO:0021296
name: carcinoma in situ of renal pelvis
def: "A in situ carcinoma that involves the renal pelvis." [MONDO:patterns/location]
synonym: "carcinoma in situ of kidney pelvis" EXACT [NCIT:C4597]
synonym: "carcinoma in situ of renal pelvis" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the kidney pelvis" EXACT [NCIT:C4597]
synonym: "carcinoma in situ of the renal pelvis" EXACT [NCIT:C4597]
synonym: "kidney pelvis carcinoma in situ" EXACT [NCIT:C4597]
synonym: "renal pelvis carcinoma in situ" EXACT [NCIT:C4597]
synonym: "renal pelvis in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 renal pelvis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "stage 0is carcinoma of kidney pelvis" EXACT [NCIT:C4597]
synonym: "stage 0is carcinoma of renal pelvis" EXACT [NCIT:C4597]
synonym: "stage 0is carcinoma of the kidney pelvis" EXACT [NCIT:C4597]
synonym: "stage 0is carcinoma of the renal pelvis" EXACT [NCIT:C4597]
synonym: "stage 0is kidney pelvis carcinoma" EXACT [NCIT:C4597]
synonym: "stage 0is kidney renal pelvis urothelial cancer" EXACT [NCIT:C4597]
synonym: "stage 0is renal pelvis cancer" EXACT [NCIT:C4597]
synonym: "stage 0is renal pelvis cancer aJCC v7" EXACT [NCIT:C4597]
synonym: "stage 0is renal pelvis urothelial carcinoma" EXACT [NCIT:C4597]
synonym: "stage 0is renal pelvis urothelial carcinoma aJCC v7" EXACT [NCIT:C4597]
xref: ICD9:233.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4597 {source="MONDO:equivalentTo"}
xref: SCTID:92697000 {source="MONDO:equivalentTo"}
xref: UMLS:C0347184 {source="MONDO:equivalentTo", source="MEDGEN:83855", source="MONDO:MEDGEN"}
is_a: MONDO:0004732 {source="MONDO:Redundant"} ! kidney carcinoma in situ
is_a: MONDO:0005519 {source="MONDO:Redundant", source="NCIT:C4597/inferred"} ! renal pelvis carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0021297
name: carcinoma in situ of nasopharynx
def: "A in situ carcinoma that involves the nasopharynx." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "carcinoma in situ of nasopharynx" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the nasopharynx" EXACT [NCIT:C9099]
synonym: "nasopharyngeal carcinoma in situ" EXACT [NCIT:C9099]
synonym: "nasopharynx carcinoma in situ" EXACT []
synonym: "nasopharynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of nasopharynx" EXACT [NCIT:C9099]
synonym: "stage 0 carcinoma of the nasopharynx" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal cancer" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma aJCC v6" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma aJCC v7" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma aJCC v8" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal carcinoma in situ" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharyngeal throat cancer" EXACT [NCIT:C9099]
synonym: "stage 0 nasopharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9099]
xref: MEDGEN:83850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9099 {source="MONDO:equivalentTo"}
xref: SCTID:92664001 {source="MONDO:equivalentTo"}
xref: UMLS:C0347096 {source="MEDGEN:83850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000372 {source="MONDO:Redundant", source="NCIT:C9099"} ! pharynx carcinoma in situ
is_a: MONDO:0015459 {source="MONDO:Redundant", source="NCIT:C9099/inferred"} ! nasopharyngeal carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0021298
name: carcinoma in situ of oropharynx
def: "A in situ carcinoma that involves the oropharynx." [MONDO:patterns/location]
synonym: "carcinoma in situ of oropharynx" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of the oropharynx" EXACT [NCIT:C4590]
synonym: "oropharyngeal cancer stage 0" EXACT [NCIT:C4590]
synonym: "oropharyngeal carcinoma in situ" EXACT [NCIT:C4590]
synonym: "oropharynx carcinoma in situ" EXACT [NCIT:C4590]
synonym: "oropharynx in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "stage 0 carcinoma of oropharynx" EXACT [NCIT:C4590]
synonym: "stage 0 carcinoma of the oropharynx" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal cancer" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma aJCC v6" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma aJCC v6 and v7" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma aJCC v7" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal carcinoma in situ" EXACT [NCIT:C4590]
synonym: "stage 0 oropharyngeal throat cancer" EXACT [NCIT:C4590]
synonym: "stage 0 oropharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4590]
xref: MEDGEN:83852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4590 {source="MONDO:equivalentTo"}
xref: SCTID:92668003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347099 {source="MEDGEN:83852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000372 {source="MONDO:Redundant", source="NCIT:C4590"} ! pharynx carcinoma in situ
is_a: MONDO:0004608 {source="MONDO:Entailed", source="NCIT:C4590/inferred"} ! oropharynx cancer
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0001729 ! oropharynx

[Term]
id: MONDO:0021299
name: carcinoma in situ of extrahepatic bile duct
def: "A in situ carcinoma that involves the extrahepatic bile duct." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma in situ of extrahepatic bile duct" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of extrahepatic bile ducts" EXACT [NCIT:C4442]
synonym: "carcinoma in situ of extrahepatic biliary ducts" EXACT [NCIT:C4442]
synonym: "carcinoma in situ of the extrahepatic bile duct" EXACT [NCIT:C4442]
synonym: "extrahepatic bile duct cancer stage 0" EXACT [NCIT:C4442]
synonym: "extrahepatic bile duct carcinoma in situ" EXACT [NCIT:C4442]
synonym: "extrahepatic bile duct in situ carcinoma" EXACT [MONDO:patterns/location]
synonym: "extrahepatic biliary duct carcinoma in situ" EXACT [NCIT:C4442]
synonym: "stage 0 carcinoma of extrahepatic bile duct" EXACT [NCIT:C4442]
synonym: "stage 0 carcinoma of the extrahepatic bile duct" EXACT [NCIT:C4442]
synonym: "stage 0 extrahepatic bile duct cancer" EXACT [NCIT:C4442]
synonym: "stage 0 extrahepatic bile duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4442]
synonym: "stage 0 extrahepatic bile duct carcinoma in situ" EXACT [NCIT:C4442]
xref: MEDGEN:138028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4442 {source="MONDO:equivalentTo"}
xref: SCTID:92589000 {source="MONDO:equivalentTo"}
xref: UMLS:C0345914 {source="MEDGEN:138028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0021300
name: adenoid cystic carcinoma of oropharynx
def: "A adenoid cystic carcinoma that involves the oropharynx." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of the oropharynx" EXACT [NCIT:C6241]
synonym: "oropharyngeal adenoid cystic carcinoma" EXACT [NCIT:C6241]
synonym: "oropharyngeal throat adenoid cystic cancer" EXACT [NCIT:C6241]
synonym: "oropharynx adenoid cystic carcinoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:235411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6241 {source="MONDO:equivalentTo"}
xref: SCTID:423318000 {source="MONDO:equivalentTo"}
xref: UMLS:C1335139 {source="MEDGEN:235411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004608 {source="MONDO:Entailed", source="NCIT:C6241/inferred"} ! oropharynx cancer
is_a: MONDO:0004971 {source="MONDO:Redundant", source="NCIT:C6241/inferred"} ! adenoid cystic carcinoma
is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C6241/inferred"} ! carcinoma of pharynx
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001729 ! oropharynx

[Term]
id: MONDO:0021301
name: adenoma of nipple
def: "A adenoma that involves the nipple." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of the nipple" EXACT [NCIT:C4192]
synonym: "nipple adenoma" EXACT [MONDO:patterns/location, NCIT:C4192]
synonym: "papillomatosis, subareolar duct" EXACT [NCIT:C4192]
synonym: "subareolar duct papillomatosis" RELATED [NCIT:C4192]
xref: ICDO:8506/0 {source="NCIT:C4192"}
xref: MEDGEN:137752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4192 {source="MONDO:equivalentTo"}
xref: SCTID:302829009 {source="MONDO:equivalentTo"}
xref: UMLS:C0334378 {source="MEDGEN:137752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002482 {source="MONDO:Redundant", source="NCIT:C4192/inferred"} ! nipple neoplasm
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0002030 ! nipple

[Term]
id: MONDO:0021303
name: adenoma of small intestine
def: "A adenoma that involves the small intestine." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma of small bowel" EXACT [NCIT:C5340]
synonym: "adenoma of the small bowel" EXACT [NCIT:C5340]
synonym: "adenoma of the small intestine" EXACT [NCIT:C5340]
synonym: "small bowel adenoma" EXACT [NCIT:C5340]
synonym: "small intestinal adenoma" EXACT [NCIT:C5340]
synonym: "small intestine adenoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:226995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5340 {source="MONDO:equivalentTo"}
xref: SCTID:399422005 {source="MONDO:equivalentTo"}
xref: UMLS:C1302392 {source="MEDGEN:226995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C5340"} ! small intestine neoplasm
is_a: MONDO:0006180 {source="MONDO:Redundant", source="NCIT:C5340"} ! digestive system adenoma
intersection_of: MONDO:0004972 ! adenoma
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0021307
name: obsolete MONDO:0021307
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005575

[Term]
id: MONDO:0021309
name: malignant neoplasm of endocervix
def: "A cancer that involves the endocervix." [MONDO:patterns/location]
synonym: "cancer of endocervix" EXACT [MONDO:patterns/cancer]
synonym: "endocervix cancer" EXACT [MONDO:patterns/location]
synonym: "malignant endocervical neoplasm" EXACT [NCIT:C3553]
synonym: "malignant endocervical tumor" EXACT [NCIT:C3553]
synonym: "malignant endocervical tumour" EXACT OMO:0003005 []
synonym: "malignant endocervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3553]
synonym: "malignant endocervix tumor" EXACT [NCIT:C3553]
synonym: "malignant endocervix tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of endocervix" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the endocervix" EXACT [NCIT:C3553]
synonym: "malignant neoplasm of the uterine endocervix" EXACT [NCIT:C3553]
synonym: "malignant neoplasm of uterine endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumor of endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumor of the endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumor of the uterine endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumor of uterine endocervix" EXACT [NCIT:C3553]
synonym: "malignant tumour of endocervix" EXACT OMO:0003005 []
synonym: "malignant tumour of the endocervix" EXACT OMO:0003005 []
synonym: "malignant tumour of the uterine endocervix" EXACT OMO:0003005 []
synonym: "malignant tumour of uterine endocervix" EXACT OMO:0003005 []
synonym: "malignant uterine endocervix neoplasm" EXACT [NCIT:C3553]
synonym: "malignant uterine endocervix tumor" EXACT [NCIT:C3553]
synonym: "malignant uterine endocervix tumour" EXACT OMO:0003005 []
xref: ICD10CM:C53.0 {source="MONDO:equivalentTo"}
xref: ICD9:180.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3553 {source="MONDO:equivalentTo"}
xref: SCTID:372097009 {source="MONDO:equivalentTo"}
xref: UMLS:C0153569 {source="MEDGEN:56309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002974 {source="MONDO:Redundant", source="NCIT:C3553"} ! cervical cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000458 ! endocervix

[Term]
id: MONDO:0021310
name: malignant tumor of neck
def: "A cancer that involves the neck." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of neck" EXACT [MONDO:patterns/cancer, NCIT:C4940]
synonym: "cancer of the neck" EXACT [NCIT:C4940]
synonym: "malignant neck neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4940]
synonym: "malignant neck tumor" EXACT [NCIT:C4940]
synonym: "malignant neck tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of neck" EXACT [MONDO:patterns/cancer, NCIT:C4940]
synonym: "malignant neoplasm of the neck" EXACT [NCIT:C4940]
synonym: "malignant tumor of the neck" EXACT [NCIT:C4940]
synonym: "malignant tumour of the neck" EXACT OMO:0003005 []
synonym: "neck cancer" EXACT [MONDO:patterns/location, NCIT:C4940]
xref: MEDGEN:155434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4940 {source="MONDO:equivalentTo"}
xref: SCTID:363489000 {source="MONDO:equivalentTo"}
xref: UMLS:C0746787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155434"}
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C4940"} ! head and neck cancer
is_a: MONDO:0021351 {source="MONDO:Redundant", source="NCIT:C4940"} ! neoplasm of neck
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0000974 ! neck

[Term]
id: MONDO:0021311
name: malignant tumor of parathyroid gland
def: "A cancer that involves the parathyroid gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of parathyroid gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of parathyroid" EXACT [NCIT:C9322]
synonym: "malignant neoplasm of parathyroid gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the parathyroid" EXACT [NCIT:C9322]
synonym: "malignant neoplasm of the parathyroid gland" EXACT [NCIT:C9322]
synonym: "malignant parathyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9322]
synonym: "malignant parathyroid gland tumor" EXACT [NCIT:C9322]
synonym: "malignant parathyroid gland tumour" EXACT OMO:0003005 []
synonym: "malignant parathyroid neoplasm" EXACT [NCIT:C9322]
synonym: "malignant parathyroid tumor" EXACT [NCIT:C9322]
synonym: "malignant parathyroid tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of parathyroid" EXACT [NCIT:C9322]
synonym: "malignant tumor of the parathyroid" EXACT [NCIT:C9322]
synonym: "malignant tumor of the parathyroid gland" EXACT [NCIT:C9322]
synonym: "malignant tumour of parathyroid" EXACT OMO:0003005 []
synonym: "malignant tumour of the parathyroid" EXACT OMO:0003005 []
synonym: "malignant tumour of the parathyroid gland" EXACT OMO:0003005 []
synonym: "parathyroid cancer" EXACT [MONDO:patterns/location]
synonym: "parathyroid gland cancer" EXACT [MONDO:patterns/location]
xref: ICD9:194.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9322 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PTH {source="MONDO:equivalentTo"}
xref: SCTID:363481002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102283"}
is_a: MONDO:0021360 {source="MONDO:Redundant", source="NCIT:C9322"} ! tumor of parathyroid gland
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland

[Term]
id: MONDO:0021312
name: malignant tumor of adrenal cortex
def: "A cancer that involves the adrenal cortex." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal cortex cancer" EXACT [MONDO:patterns/location]
synonym: "cancer of adrenal cortex" EXACT [MONDO:patterns/cancer]
synonym: "malignant adrenal cortex neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9327]
synonym: "malignant adrenal cortex tumor" EXACT [NCIT:C9327]
synonym: "malignant adrenal cortex tumour" EXACT OMO:0003005 []
synonym: "malignant adrenocortical neoplasm" EXACT [NCIT:C9327]
synonym: "malignant adrenocortical tumor" EXACT [NCIT:C9327]
synonym: "malignant adrenocortical tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of adrenal cortex" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the adrenal cortex" EXACT [NCIT:C9327]
synonym: "malignant tumor of the adrenal cortex" EXACT [NCIT:C9327]
synonym: "malignant tumour of the adrenal cortex" EXACT OMO:0003005 []
xref: MEDGEN:83425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9327 {source="MONDO:equivalentTo"}
xref: SCTID:371964008 {source="MONDO:equivalentTo"}
xref: UMLS:C0346402 {source="MEDGEN:83425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002817 {source="MONDO:Redundant", source="NCIT:C9327"} ! adrenal gland cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex

[Term]
id: MONDO:0021313
name: eyelid cancer
def: "A cancer that involves the eyelid." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of eyelid" EXACT [MONDO:patterns/cancer]
synonym: "eyelid cancer" EXACT [MONDO:patterns/location]
synonym: "malignant eyelid neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C6786]
synonym: "malignant eyelid tumor" EXACT [NCIT:C6786]
synonym: "malignant eyelid tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of eyelid" EXACT [MONDO:patterns/cancer, NCIT:C6786]
synonym: "malignant neoplasm of the eyelid" EXACT [NCIT:C6786]
synonym: "malignant tumor of eyelid" EXACT [NCIT:C6786]
synonym: "malignant tumor of the eyelid" EXACT [NCIT:C6786]
synonym: "malignant tumour of eyelid" EXACT OMO:0003005 []
synonym: "malignant tumour of the eyelid" EXACT OMO:0003005 []
xref: ICD9:173.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:501131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6786 {source="MONDO:equivalentTo"}
xref: SCTID:231829006 {source="MONDO:equivalentTo"}
xref: UMLS:C1828015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501131"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C6786"} ! eyelid neoplasm
is_a: MONDO:0002236 {source="MONDO:Redundant", source="NCIT:C6786"} ! ocular cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0021315
name: malignant tumor of nasopharynx
def: "A cancer that involves the nasopharynx." [MONDO:patterns/location]
synonym: "cancer of nasopharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant nasopharyngeal neoplasm" EXACT [NCIT:C9321]
synonym: "malignant nasopharyngeal tumor" EXACT [NCIT:C9321]
synonym: "malignant nasopharyngeal tumour" EXACT OMO:0003005 []
synonym: "malignant nasopharynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of nasopharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the nasopharynx" EXACT [NCIT:C9321]
synonym: "malignant tumor of the nasopharynx" EXACT [NCIT:C9321]
synonym: "malignant tumour of the nasopharynx" EXACT OMO:0003005 []
synonym: "nasopharynx cancer" EXACT [MONDO:patterns/location]
xref: ICD9:147.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:147.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9321 {source="MONDO:equivalentTo"}
xref: SCTID:187692001 {source="MONDO:equivalentTo"}
xref: UMLS:C0153392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56299"}
is_a: MONDO:0005375 {source="MONDO:Redundant", source="NCIT:C9321"} ! nasopharyngeal neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0021316
name: malignant tumor of minor salivary gland
def: "A cancer that involves the minor salivary gland." [MONDO:patterns/location]
synonym: "cancer of minor salivary gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant minor salivary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4410]
synonym: "malignant minor salivary gland tumor" EXACT [NCIT:C4410]
synonym: "malignant minor salivary gland tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of minor salivary gland" EXACT [MONDO:patterns/cancer, NCIT:C4410]
synonym: "malignant neoplasm of the minor salivary gland" EXACT [NCIT:C4410]
synonym: "malignant tumor of the minor salivary gland" EXACT [NCIT:C4410]
synonym: "malignant tumour of the minor salivary gland" EXACT OMO:0003005 []
synonym: "minor salivary gland cancer" RELATED [MONDO:patterns/location]
xref: MEDGEN:91049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4410 {source="MONDO:equivalentTo"}
xref: SCTID:363485006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345614 {source="MONDO:equivalentTo", source="MEDGEN:91049", source="MONDO:MEDGEN"}
is_a: MONDO:0021370 {source="MONDO:Redundant", source="NCIT:C4410"} ! neoplasm of minor salivary gland
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland

[Term]
id: MONDO:0021317
name: cancer of cerebellum
def: "A cancer that involves the cerebellum." [MONDO:patterns/location]
synonym: "cancer of cerebellum" EXACT [MONDO:patterns/cancer]
synonym: "cancer of the cerebellum" EXACT [NCIT:C3569]
synonym: "cerebellar cancer" EXACT [NCIT:C3569]
synonym: "cerebellar neoplasm, malignant" EXACT [NCIT:C3569]
synonym: "cerebellar tumor, malignant" EXACT [NCIT:C3569]
synonym: "cerebellum cancer" EXACT [MONDO:patterns/location]
synonym: "malignant cerebellar neoplasm" EXACT [NCIT:C3569]
synonym: "malignant cerebellar neoplasms" EXACT [NCIT:C3569]
synonym: "malignant cerebellar tumor" EXACT [NCIT:C3569]
synonym: "malignant cerebellar tumour" EXACT OMO:0003005 []
synonym: "malignant cerebellum neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cerebellum" EXACT [MONDO:patterns/cancer, NCIT:C3569]
synonym: "malignant neoplasm of the cerebellum" EXACT [NCIT:C3569]
synonym: "malignant tumor of cerebellum" EXACT [NCIT:C3569]
synonym: "malignant tumor of the cerebellum" EXACT [NCIT:C3569]
synonym: "malignant tumour of cerebellum" EXACT OMO:0003005 []
synonym: "malignant tumour of the cerebellum" EXACT OMO:0003005 []
xref: ICD9:191.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3569 {source="MONDO:equivalentTo"}
xref: SCTID:449420002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57797"}
is_a: MONDO:0001657 {source="MONDO:Redundant", source="NCIT:C3569/inferred"} ! brain cancer
is_a: MONDO:0002913 {source="MONDO:Redundant", source="NCIT:C3569"} ! cerebellar neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002037 ! cerebellum

[Term]
id: MONDO:0021320
name: malignant tumor of floor of mouth
def: "A cancer that involves the mouth floor." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of mouth floor" EXACT [MONDO:patterns/cancer]
synonym: "malignant floor of mouth neoplasm" EXACT [NCIT:C9318]
synonym: "malignant floor of mouth tumor" EXACT [NCIT:C9318]
synonym: "malignant floor of mouth tumour" EXACT OMO:0003005 []
synonym: "malignant floor of the mouth neoplasm" EXACT [NCIT:C9318]
synonym: "malignant floor of the mouth tumor" EXACT [NCIT:C9318]
synonym: "malignant floor of the mouth tumour" EXACT OMO:0003005 []
synonym: "malignant mouth floor neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of floor of mouth" EXACT [NCIT:C9318]
synonym: "malignant neoplasm of mouth floor" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the floor of the mouth" EXACT [NCIT:C9318]
synonym: "malignant tumor of the floor of the mouth" EXACT [NCIT:C9318]
synonym: "malignant tumour of the floor of the mouth" EXACT OMO:0003005 []
synonym: "mouth floor cancer" EXACT [MONDO:patterns/location]
xref: ICD9:144.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:144.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9318 {source="MONDO:equivalentTo"}
xref: SCTID:363385007 {source="MONDO:equivalentTo"}
xref: UMLS:C0153368 {source="MEDGEN:102264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C9318/inferred"} ! head and neck cancer
is_a: MONDO:0021383 {source="MONDO:Redundant", source="NCIT:C9318"} ! neoplasm of floor of mouth
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003679 ! mouth floor

[Term]
id: MONDO:0021321
name: malignant tumor of extrahepatic bile duct
def: "A cancer that involves the extrahepatic bile duct." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of extrahepatic bile duct" EXACT [MONDO:patterns/cancer]
synonym: "extrahepatic bile duct cancer" BROAD [MONDO:patterns/location]
synonym: "malignant extrahepatic bile duct neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7483]
synonym: "malignant extrahepatic bile duct tumor" EXACT [NCIT:C7483]
synonym: "malignant extrahepatic bile duct tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of extrahepatic bile duct" EXACT [MONDO:patterns/cancer, NCIT:C7483]
synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT [NCIT:C7483]
synonym: "malignant tumor of the extrahepatic bile duct" EXACT [NCIT:C7483]
synonym: "malignant tumour of the extrahepatic bile duct" EXACT OMO:0003005 []
xref: ICD9:156.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:156.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:56304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7483 {source="MONDO:equivalentTo"}
xref: SCTID:363416002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56304"}
is_a: MONDO:0021385 {source="MONDO:Redundant", source="NCIT:C7483"} ! extrahepatic bile duct neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0021322
name: malignant tumor of meninges
def: "A cancer that involves the meningeal cluster." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of meningeal cluster" EXACT [MONDO:patterns/cancer]
synonym: "cancer of meninges" EXACT [NCIT:C4628]
synonym: "cancer of the meninges" EXACT [NCIT:C4628]
synonym: "malignant meningeal cluster neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant meningeal neoplasms" EXACT [NCIT:C4628]
synonym: "malignant meningeal tumor" EXACT [NCIT:C4628]
synonym: "malignant meningeal tumour" EXACT OMO:0003005 []
synonym: "malignant meninges neoplasm" EXACT [NCIT:C4628]
synonym: "malignant meninges tumor" EXACT [NCIT:C4628]
synonym: "malignant meninges tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of meningeal cluster" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of meninges" EXACT [NCIT:C4628]
synonym: "malignant neoplasm of the meninges" EXACT [NCIT:C4628]
synonym: "malignant neoplasms of meninges" EXACT [NCIT:C4628]
synonym: "malignant tumor of the meninges" EXACT [NCIT:C4628]
synonym: "malignant tumour of the meninges" EXACT OMO:0003005 []
synonym: "meningeal cancer" EXACT [NCIT:C4628]
synonym: "meningeal cluster cancer" EXACT [MONDO:patterns/location]
synonym: "meningeal tumors, malignant" EXACT [NCIT:C4628]
xref: MEDGEN:87594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4628 {source="MONDO:equivalentTo"}
xref: SCTID:363497007 {source="MONDO:equivalentTo"}
xref: UMLS:C0348375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87594"}
is_a: MONDO:0002714 {source="MONDO:Redundant", source="NCIT:C4628"} ! central nervous system cancer
is_a: MONDO:0016743 {source="MONDO:Redundant", source="NCIT:C4628"} ! tumor of meninges
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster

[Term]
id: MONDO:0021323
name: malignant neoplasm of chest wall
def: "A cancer that involves the chest wall." [MONDO:patterns/location]
synonym: "cancer of chest wall" EXACT [MONDO:patterns/cancer]
synonym: "chest wall cancer" EXACT [MONDO:patterns/location]
synonym: "malignant chest wall neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4580]
synonym: "malignant chest wall tumor" EXACT [NCIT:C4580]
synonym: "malignant chest wall tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of chest wall" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of the chest wall" EXACT [NCIT:C4580]
synonym: "malignant tumor of chest wall" EXACT [NCIT:C4580]
synonym: "malignant tumor of the chest wall" EXACT [NCIT:C4580]
synonym: "malignant tumour of chest wall" EXACT OMO:0003005 []
synonym: "malignant tumour of the chest wall" EXACT OMO:0003005 []
xref: MEDGEN:138070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4580 {source="MONDO:equivalentTo"}
xref: SCTID:712750007 {source="MONDO:equivalentTo"}
xref: UMLS:C0346948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138070"}
is_a: MONDO:0003274 {source="MONDO:Redundant", source="NCIT:C4580"} ! thoracic cancer
is_a: MONDO:0021388 {source="MONDO:Redundant", source="NCIT:C4580"} ! neoplasm of chest wall
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0016435 ! chest wall

[Term]
id: MONDO:0021324
name: malignant neoplasm of abdominal esophagus
def: "A cancer that involves the abdominal part of esophagus." [MONDO:patterns/location]
synonym: "abdominal part of esophagus cancer" EXACT [MONDO:patterns/location]
synonym: "abdominal part of oesophagus cancer" EXACT OMO:0003005 []
synonym: "cancer of abdominal part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "cancer of abdominal part of oesophagus" EXACT OMO:0003005 []
synonym: "malignant abdominal part of esophagus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant abdominal part of oesophagus neoplasm" EXACT OMO:0003005 []
synonym: "malignant neoplasm of abdominal part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of abdominal part of oesophagus" EXACT OMO:0003005 []
synonym: "malignant neoplasm of the abdominal esophagus" EXACT [NCIT:C4764]
synonym: "malignant neoplasm of the abdominal oesophagus" EXACT OMO:0003005 []
synonym: "malignant tumor of the abdominal esophagus" EXACT [NCIT:C4764]
synonym: "malignant tumour of the abdominal oesophagus" EXACT OMO:0003005 []
xref: ICD9:150.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:141675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4764 {source="MONDO:equivalentTo"}
xref: SCTID:187724003 {source="MONDO:equivalentTo"}
xref: UMLS:C0496775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141675"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0035177 ! abdominal part of esophagus

[Term]
id: MONDO:0021325
name: malignant neoplasm of thoracic esophagus
def: "A cancer that involves the thoracic part of esophagus." [MONDO:patterns/location]
synonym: "cancer of thoracic part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "cancer of thoracic part of oesophagus" EXACT OMO:0003005 []
synonym: "malignant neoplasm of the thoracic esophagus" EXACT [NCIT:C3532]
synonym: "malignant neoplasm of the thoracic oesophagus" EXACT OMO:0003005 []
synonym: "malignant neoplasm of thoracic part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of thoracic part of oesophagus" EXACT OMO:0003005 []
synonym: "malignant thoracic part of esophagus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant thoracic part of oesophagus neoplasm" EXACT OMO:0003005 []
synonym: "thoracic part of esophagus cancer" EXACT [MONDO:patterns/location]
synonym: "thoracic part of oesophagus cancer" EXACT OMO:0003005 []
xref: ICD9:150.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3532 {source="MONDO:equivalentTo"}
xref: SCTID:187723009 {source="MONDO:equivalentTo"}
xref: UMLS:C0153411 {source="MONDO:equivalentTo", source="MEDGEN:102268", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0035216 ! thoracic part of esophagus

[Term]
id: MONDO:0021326
name: malignant neoplasm of cervical esophagus
def: "A cancer that involves the cervical part of esophagus." [MONDO:patterns/location]
synonym: "cancer of cervical part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "cancer of cervical part of oesophagus" EXACT OMO:0003005 []
synonym: "cervical part of esophagus cancer" EXACT [MONDO:patterns/location]
synonym: "cervical part of oesophagus cancer" EXACT OMO:0003005 []
synonym: "malignant cervical part of esophagus neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant cervical part of oesophagus neoplasm" EXACT OMO:0003005 []
synonym: "malignant neoplasm of cervical part of esophagus" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cervical part of oesophagus" EXACT OMO:0003005 []
synonym: "malignant neoplasm of the cervical esophagus" EXACT [NCIT:C4763]
synonym: "malignant neoplasm of the cervical oesophagus" EXACT OMO:0003005 []
xref: ICD9:150.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:141674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4763 {source="MONDO:equivalentTo"}
xref: SCTID:187722004 {source="MONDO:equivalentTo"}
xref: UMLS:C0496773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141674"}
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0035450 ! cervical part of esophagus

[Term]
id: MONDO:0021327
name: carcinoma of urethra
def: "A carcinoma that involves the urethra." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of the urethra" EXACT [NCIT:C9106]
synonym: "carcinoma of urethra" EXACT [MONDO:patterns/carcinoma]
synonym: "urethra carcinoma" EXACT [MONDO:patterns/location, NCIT:C9106]
synonym: "urethral cancer" EXACT [NCIT:C9106]
synonym: "urethral carcinoma" EXACT [NCIT:C9106]
xref: MEDGEN:757195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9106 {source="MONDO:equivalentTo"}
xref: SCTID:448954003 {source="MONDO:equivalentTo"}
xref: UMLS:C3164789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:757195"}
is_a: MONDO:0004192 {source="MONDO:Redundant", source="NCIT:C9106"} ! urethra cancer
is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C9106"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000057 ! urethra

[Term]
id: MONDO:0021329
name: carcinoma of soft palate
def: "A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas." [NCIT:C8395]
synonym: "carcinoma of soft palate" EXACT [MONDO:patterns/carcinoma, NCIT:C8395]
synonym: "carcinoma of the soft palate" EXACT [NCIT:C8395]
synonym: "soft palate cancer" BROAD [NCIT:C8395]
synonym: "soft palate carcinoma" EXACT [MONDO:patterns/location, NCIT:C8395]
xref: MEDGEN:87505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8395 {source="MONDO:equivalentTo"}
xref: SCTID:254435009 {source="MONDO:equivalentTo"}
xref: UMLS:C0345555 {source="MEDGEN:87505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C8395/inferred"} ! head and neck carcinoma
is_a: MONDO:0004611 {source="MONDO:Redundant", source="NCIT:C8395"} ! soft palate cancer
is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C8395/inferred"} ! carcinoma of pharynx
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001733 ! soft palate

[Term]
id: MONDO:0021331
name: carcinoma of parotid gland
def: "A carcinoma that involves the parotid gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of parotid" EXACT [NCIT:C6791]
synonym: "carcinoma of parotid gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the parotid" EXACT [NCIT:C6791]
synonym: "carcinoma of the parotid gland" EXACT [NCIT:C6791]
synonym: "parotid carcinoma" EXACT [NCIT:C6791]
synonym: "parotid gland cancer" BROAD [NCIT:C6791]
synonym: "parotid gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6791]
xref: EFO:1000460 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:91047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6791 {source="MONDO:equivalentTo"}
xref: SCTID:254462001 {source="MONDO:equivalentTo"}
xref: UMLS:C0345602 {source="MEDGEN:91047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004700 {source="MONDO:Redundant", source="NCIT:C6791"} ! parotid gland cancer
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C6791"} ! major salivary gland carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0021333
name: carcinoma of lip
def: "A carcinoma that involves the lip." [MONDO:patterns/location]
synonym: "carcinoma of lip" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the Lip" EXACT [NCIT:C3490]
synonym: "lip cancer" BROAD [NCIT:C3490]
synonym: "lip carcinoma" EXACT [MONDO:patterns/location, NCIT:C3490]
xref: MEDGEN:56195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3490 {source="MONDO:equivalentTo"}
xref: SCTID:269515006 {source="MONDO:equivalentTo"}
xref: UMLS:C0149637 {source="MEDGEN:56195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C3490/inferred"} ! head and neck carcinoma
is_a: MONDO:0006834 {source="MONDO:Redundant", source="NCIT:C3490"} ! lip cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001833 ! lip

[Term]
id: MONDO:0021334
name: immunoproliferative disorder
def: "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." [MESH:D007160]
subset: otar {source="MONDO:OTAR"}
synonym: "Disorder, Immunoproliferative" RELATED [MESH:D007160]
synonym: "Disorders, Immunoproliferative" RELATED [MESH:D007160]
synonym: "Immunoproliferative disease" RELATED [UMLS:C0021070]
synonym: "Immunoproliferative Disorder" RELATED [MESH:D007160]
synonym: "Immunoproliferative disorder" RELATED [UMLS:C0021070]
synonym: "immunoproliferative disorder" EXACT []
synonym: "Immunoproliferative Disorders" RELATED [MESH:D007160]
xref: ICD9:203.80
xref: MEDGEN:7038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007160 {source="UMLS:C0021070", source="MONDO:equivalentTo"}
xref: SCTID:127071007 {source="UMLS:C0021070", source="MONDO:equivalentTo"}
xref: SCTID:86295000 {source="UMLS:C0021070"}
xref: UMLS:C0021070 {source="MEDGEN:7038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="MESH:D007160"} ! immune system disorder

[Term]
id: MONDO:0021335
name: carcinoma of duodenum
def: "A carcinoma that involves the duodenum." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cancer of duodenum" BROAD [NCIT:C4803]
synonym: "cancer of the duodenum" BROAD [NCIT:C4803]
synonym: "carcinoma of duodenum" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the duodenum" EXACT [NCIT:C4803]
synonym: "duodenal cancer" BROAD [NCIT:C4803]
synonym: "duodenal carcinoma" EXACT [NCIT:C4803]
synonym: "duodenum carcinoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:1821119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4803 {source="MONDO:equivalentTo"}
xref: SCTID:254570009 {source="MONDO:equivalentTo"}
xref: UMLS:C5769746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1821119"}
is_a: MONDO:0000920 {source="MONDO:Redundant", source="NCIT:C4803"} ! duodenum cancer
is_a: MONDO:0005522 {source="MONDO:Redundant", source="NCIT:C4803"} ! small intestine carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0021337
name: tonsil carcinoma
def: "A carcinoma that involves the tonsil." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of the tonsil" BROAD [NCIT:C4825]
synonym: "cancer of tonsil" BROAD [NCIT:C4825]
synonym: "carcinoma of the tonsil" EXACT [NCIT:C4825]
synonym: "carcinoma of tonsil" EXACT [MONDO:patterns/carcinoma, NCIT:C4825]
synonym: "tonsil cancer" BROAD [NCIT:C4825]
synonym: "tonsil carcinoma" EXACT [MONDO:patterns/location]
synonym: "tonsillar cancer" BROAD [NCIT:C4825]
synonym: "tonsillar carcinoma" EXACT [NCIT:C4825]
xref: MEDGEN:107535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4825 {source="MONDO:equivalentTo"}
xref: SCTID:274085008 {source="MONDO:equivalentTo"}
xref: UMLS:C0558355 {source="MEDGEN:107535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006998 {source="MONDO:Redundant", source="NCIT:C4825"} ! tonsil cancer
is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C4825/inferred"} ! carcinoma of pharynx
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002372 ! tonsil

[Term]
id: MONDO:0021339
name: carcinoma of hard palate
def: "A carcinoma that involves the hard palate." [MONDO:patterns/location]
synonym: "carcinoma of hard palate" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the hard palate" EXACT [NCIT:C8394]
synonym: "hard palate carcinoma" EXACT [MONDO:patterns/location, NCIT:C8394]
xref: MEDGEN:138019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8394 {source="MONDO:equivalentTo"}
xref: SCTID:254434008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345550 {source="MEDGEN:138019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C8394/inferred"} ! head and neck carcinoma
is_a: MONDO:0004719 {source="MONDO:Redundant", source="NCIT:C8394"} ! hard palate cancer
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0003216 ! hard palate

[Term]
id: MONDO:0021340
name: intertrigo
def: "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation." [MESH:D007402]
subset: otar {source="MONDO:OTAR"}
synonym: "Eczema intertrigo" RELATED [UMLS:C0021807]
synonym: "Erythema intertrigo" RELATED [UMLS:C0021807]
synonym: "Intertrigo" RELATED [MESH:D007402]
xref: ICD9:695.89
xref: MEDGEN:43928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007402 {source="MONDO:equivalentTo", source="UMLS:C0021807"}
xref: SCTID:58759008 {source="MONDO:equivalentTo", source="UMLS:C0021807"}
xref: UMLS:C0021807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43928"}
is_a: MONDO:0002406 {source="MESH:D007402"} ! dermatitis

[Term]
id: MONDO:0021343
name: carcinoma of floor of mouth
def: "A carcinoma that involves the mouth floor." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of mouth floor" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the floor of the mouth" EXACT [NCIT:C9319]
synonym: "floor of mouth carcinoma" EXACT [NCIT:C9319]
synonym: "floor of the mouth carcinoma" EXACT [NCIT:C9319]
synonym: "mouth floor cancer" BROAD [NCIT:C9319]
synonym: "mouth floor carcinoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:756825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9319 {source="MONDO:equivalentTo"}
xref: SCTID:449156009 {source="MONDO:equivalentTo"}
xref: UMLS:C3164417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:756825"}
is_a: MONDO:0002038 {source="MONDO:Redundant", source="NCIT:C9319/inferred"} ! head and neck carcinoma
is_a: MONDO:0021320 {source="MONDO:Redundant", source="NCIT:C9319"} ! malignant tumor of floor of mouth
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0003679 ! mouth floor

[Term]
id: MONDO:0021345
name: carcinoma of pharynx
def: "A carcinoma that involves the pharynx." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of the pharynx" EXACT [NCIT:C9466]
synonym: "carcinoma of pharynx" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of the pharynx" EXACT [NCIT:C9466]
synonym: "pharyngeal carcinoma" EXACT [NCIT:C9466]
synonym: "pharyngeal throat cancer" EXACT [NCIT:C9466]
synonym: "pharynx carcinoma" EXACT [MONDO:patterns/location, NCIT:C9466]
xref: MEDGEN:757152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9466 {source="MONDO:equivalentTo"}
xref: SCTID:449254004 {source="MONDO:equivalentTo"}
xref: UMLS:C3164746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:757152"}
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0006562 ! pharynx

[Term]
id: MONDO:0021348
name: neoplasm of testis
def: "A neoplasm (disease) that involves the testis." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of testis" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the testis" EXACT [NCIT:C3404]
synonym: "testicular neoplasm" EXACT [NCIT:C3404]
synonym: "testicular tumor" EXACT [NCIT:C3404]
synonym: "testicular tumour" EXACT OMO:0003005 []
synonym: "testis neoplasm" EXACT [ONCOTREE:TESTIS]
synonym: "testis neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "testis tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "testis tumour" EXACT OMO:0003005 []
synonym: "tumor of testis" EXACT [MONDO:patterns/neoplasm, NCIT:C3404]
synonym: "tumor of the testis" EXACT [NCIT:C3404]
synonym: "tumour of testis" EXACT OMO:0003005 []
synonym: "tumour of the testis" EXACT OMO:0003005 []
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:52675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12412 {source="ONCOTREE:TESTIS"}
xref: NCIT:C3404 {source="MONDO:equivalentTo"}
xref: ONCOTREE:TESTIS {source="MONDO:equivalentTo"}
xref: SCTID:126900000 {source="MONDO:equivalentTo"}
xref: UMLS:C0039590 {source="MEDGEN:52675", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002329 {source="MONDO:Redundant", source="NCIT:C3404"} ! testicular disorder
is_a: MONDO:0006054 {source="MONDO:Entailed", source="NCIT:C3404/inferred"} ! reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0021350
name: neoplasm of thorax
def: "A neoplasm (disease) that involves the thoracic segment of trunk." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the thorax" EXACT [NCIT:C3406]
synonym: "neoplasm of thoracic segment of trunk" EXACT [MONDO:patterns/neoplasm]
synonym: "thoracic neoplasm" EXACT [NCIT:C3406]
synonym: "thoracic segment of trunk neoplasm" EXACT []
synonym: "thoracic segment of trunk neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "thoracic segment of trunk tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "thoracic segment of trunk tumour" EXACT OMO:0003005 []
synonym: "thoracic tumor" EXACT [NCIT:C3406]
synonym: "thoracic tumour" EXACT OMO:0003005 []
synonym: "tumor of the thorax" EXACT [NCIT:C3406]
synonym: "tumor of thoracic segment of trunk" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of thorax" EXACT [NCIT:C3406]
synonym: "tumour of the thorax" EXACT OMO:0003005 []
synonym: "tumour of thoracic segment of trunk" EXACT OMO:0003005 []
synonym: "tumour of thorax" EXACT OMO:0003005 []
xref: ICD10CM:C30-C39 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3406 {source="MONDO:equivalentTo"}
xref: SCTID:255058005 {source="MONDO:equivalentTo"}
xref: UMLS:C0039981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11793"}
is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3406/inferred"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000915 ! thoracic segment of trunk

[Term]
id: MONDO:0021351
name: neoplasm of neck
def: "A neoplasm (disease) that involves the neck." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neck neoplasm" EXACT [NCIT:C3260]
synonym: "neck neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "neck neoplasms (Including All pharyngeal related neoplasms)" EXACT [NCIT:C3260]
synonym: "neck tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3260]
synonym: "neck tumour" EXACT OMO:0003005 []
synonym: "neoplasm of neck" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the neck" EXACT [NCIT:C3260]
synonym: "tumor of neck" EXACT [MONDO:patterns/neoplasm, NCIT:C3260]
synonym: "tumor of the neck" EXACT [NCIT:C3260]
synonym: "tumour of neck" EXACT OMO:0003005 []
synonym: "tumour of the neck" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3260 {source="MONDO:equivalentTo"}
xref: SCTID:126635000 {source="MONDO:equivalentTo"}
xref: UMLS:C0027533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10279"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3260"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000974 ! neck

[Term]
id: MONDO:0021353
name: tumor of uterus
def: "A neoplasm (disease) that involves the uterus." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of the uterus" EXACT [NCIT:C3435]
synonym: "neoplasm of uterus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the uterus" EXACT [NCIT:C3435]
synonym: "tumor of uterus" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of the uterus" EXACT OMO:0003005 []
synonym: "uterine neoplasm" EXACT [NCIT:C3435]
synonym: "uterine neoplasms" EXACT [NCIT:C3435]
synonym: "uterine tumor" EXACT [NCIT:C3435]
synonym: "uterine tumour" EXACT OMO:0003005 []
synonym: "uterus neoplasm" EXACT [ONCOTREE:UTERUS]
synonym: "uterus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "uterus tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "uterus tumour" EXACT OMO:0003005 []
xref: EFO:0003859 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:12030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12405 {source="ONCOTREE:UTERUS"}
xref: NCIT:C3435 {source="MONDO:equivalentTo"}
xref: ONCOTREE:UTERUS {source="MONDO:equivalentTo"}
xref: SCTID:126908007 {source="MONDO:equivalentTo"}
xref: UMLS:C0042138 {source="MEDGEN:12030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002654 {source="MONDO:Redundant", source="NCIT:C3435"} ! uterine disorder
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C3435/inferred"} ! reproductive system neoplasm
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C3435"} ! female reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000995 ! uterus

[Term]
id: MONDO:0021354
name: tumor of adipose tissue
def: "A neoplasm (disease) that involves the adipose tissue." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "adipose tissue neoplasm" EXACT [NCIT:C4248]
synonym: "adipose tissue neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "adipose tissue tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4248]
synonym: "adipose tissue tumour" EXACT OMO:0003005 []
synonym: "lipomatous neoplasm" EXACT [NCIT:C4248]
synonym: "lipomatous tumor" EXACT [NCIT:C4248]
synonym: "lipomatous tumour" EXACT OMO:0003005 []
synonym: "neoplasm of adipose tissue" EXACT [MONDO:patterns/neoplasm, NCIT:C4248]
synonym: "neoplasm of the adipose tissue" EXACT [NCIT:C4248]
synonym: "tumor of adipose tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the adipose tissue" EXACT [NCIT:C4248]
synonym: "tumour of the adipose tissue" EXACT OMO:0003005 []
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:61646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4248 {source="MONDO:equivalentTo"}
xref: SCTID:254831005 {source="MONDO:equivalentTo"}
xref: UMLS:C0206631 {source="MONDO:equivalentTo", source="MEDGEN:61646", source="MONDO:MEDGEN"}
is_a: MONDO:0002616 {source="NCIT:C4248"} ! mesenchymal cell neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001013 ! adipose tissue

[Term]
id: MONDO:0021355
name: neoplasm of esophagus
def: "A neoplasm (disease) that involves the esophagus." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "esophageal neoplasm" EXACT [NCIT:C3028]
synonym: "esophageal neoplasms, benign and malignant" EXACT [NCIT:C3028]
synonym: "esophageal tumor" EXACT [NCIT:C3028]
synonym: "esophageal tumors" EXACT [NCIT:C3028]
synonym: "esophageal tumour" EXACT OMO:0003005 []
synonym: "esophageal tumours" EXACT OMO:0003005 []
synonym: "esophagus neoplasm" EXACT [NCIT:C3028]
synonym: "esophagus neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "esophagus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3028]
synonym: "neoplasm of esophagus" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the esophagus" EXACT [NCIT:C3028]
synonym: "neoplasm of the oesophagus" EXACT OMO:0003005 []
synonym: "oesophagus neoplasm" EXACT OMO:0003005 []
synonym: "oesophagus neoplasm (disease)" EXACT OMO:0003005 []
synonym: "oesophagus tumour" EXACT OMO:0003005 []
synonym: "tumor of esophagus" EXACT [MONDO:patterns/neoplasm, NCIT:C3028]
synonym: "tumor of the esophagus" EXACT [NCIT:C3028]
synonym: "tumour of oesophagus" EXACT OMO:0003005 []
synonym: "tumour of the oesophagus" EXACT OMO:0003005 []
xref: MEDGEN:4547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3028 {source="MONDO:equivalentTo"}
xref: SCTID:126817006 {source="MONDO:equivalentTo"}
xref: UMLS:C0014859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4547"}
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C3028"} ! digestive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0021357
name: tumor of salivary gland
def: "A neoplasm (disease) that involves the saliva-secreting gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of saliva-secreting gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of salivary gland" EXACT [NCIT:C3361]
synonym: "neoplasm of the salivary gland" EXACT [NCIT:C3361]
synonym: "saliva-secreting gland neoplasm" EXACT []
synonym: "saliva-secreting gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "saliva-secreting gland tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "saliva-secreting gland tumour" EXACT OMO:0003005 []
synonym: "salivary gland neoplasm" EXACT [NCIT:C3361]
synonym: "salivary gland tumor" EXACT [NCIT:C3361]
synonym: "salivary gland tumour" EXACT OMO:0003005 []
synonym: "tumor of saliva-secreting gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the salivary gland" EXACT [NCIT:C3361]
synonym: "tumour of saliva-secreting gland" EXACT OMO:0003005 []
synonym: "tumour of the salivary gland" EXACT OMO:0003005 []
xref: EFO:1000384 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:20641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3361 {source="MONDO:equivalentTo"}
xref: SCTID:235132004 {source="MONDO:equivalentTo"}
xref: UMLS:C0036095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20641"}
is_a: MONDO:0001142 {source="EFO:0003826", source="MONDO:Redundant", source="NCIT:C3361"} ! salivary gland disorder
is_a: MONDO:0005586 {source="EFO:0003826/inferred", source="MONDO:Redundant", source="NCIT:C3361"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0021358
name: neoplasm of hypopharynx
def: "A neoplasm (disease) that involves the hypopharynx." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "hypopharyngeal neoplasm" EXACT [NCIT:C3127]
synonym: "hypopharyngeal neoplasms" EXACT [NCIT:C3127]
synonym: "hypopharyngeal tumor" EXACT [NCIT:C3127]
synonym: "hypopharyngeal tumour" EXACT OMO:0003005 []
synonym: "hypopharynx neoplasm" EXACT []
synonym: "hypopharynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "hypopharynx tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "hypopharynx tumour" EXACT OMO:0003005 []
synonym: "neoplasm of hypopharynx" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the hypopharynx" EXACT [NCIT:C3127]
synonym: "tumor of hypopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3127]
synonym: "tumor of the hypopharynx" EXACT [NCIT:C3127]
synonym: "tumour of hypopharynx" EXACT OMO:0003005 []
synonym: "tumour of the hypopharynx" EXACT OMO:0003005 []
xref: MEDGEN:43797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3127 {source="MONDO:equivalentTo"}
xref: SCTID:126686005 {source="MONDO:equivalentTo"}
xref: UMLS:C0020627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43797"}
is_a: MONDO:0005087 {source="MONDO:Redundant"} ! respiratory system disorder
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3127"} ! pharynx neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001051 ! hypopharynx

[Term]
id: MONDO:0021360
name: tumor of parathyroid gland
def: "A neoplasm (disease) that involves the parathyroid gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of parathyroid" EXACT [NCIT:C3313]
synonym: "neoplasm of parathyroid gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the parathyroid" EXACT [NCIT:C3313]
synonym: "neoplasm of the parathyroid gland" EXACT [NCIT:C3313]
synonym: "parathyroid gland neoplasm" EXACT [NCIT:C3313]
synonym: "parathyroid gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "parathyroid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3313]
synonym: "parathyroid gland tumour" EXACT OMO:0003005 []
synonym: "parathyroid neoplasm" EXACT [NCIT:C3313]
synonym: "parathyroid tumor" EXACT [NCIT:C3313]
synonym: "parathyroid tumour" EXACT OMO:0003005 []
synonym: "tumor of parathyroid" EXACT [NCIT:C3313]
synonym: "tumor of parathyroid gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the parathyroid" EXACT [NCIT:C3313]
synonym: "tumor of the parathyroid gland" EXACT [NCIT:C3313]
synonym: "tumour of parathyroid" EXACT OMO:0003005 []
synonym: "tumour of the parathyroid" EXACT OMO:0003005 []
synonym: "tumour of the parathyroid gland" EXACT OMO:0003005 []
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:10586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3313 {source="MONDO:equivalentTo"}
xref: SCTID:127020005 {source="MONDO:equivalentTo"}
xref: UMLS:C0030521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10586"}
is_a: MONDO:0001223 {source="MONDO:Redundant", source="NCIT:C3313"} ! parathyroid gland disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland

[Term]
id: MONDO:0021364
name: neoplasm of oropharynx
def: "A neoplasm (disease) that involves the oropharynx." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of oropharynx" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the oropharynx" EXACT [NCIT:C3291]
synonym: "oropharyngeal neoplasm" EXACT [NCIT:C3291]
synonym: "oropharyngeal neoplasms" EXACT [NCIT:C3291]
synonym: "oropharyngeal tumor" EXACT [NCIT:C3291]
synonym: "oropharyngeal tumour" EXACT OMO:0003005 []
synonym: "oropharynx neoplasm" EXACT []
synonym: "oropharynx neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "oropharynx tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "oropharynx tumour" EXACT OMO:0003005 []
synonym: "tumor of oropharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3291]
synonym: "tumor of the oropharynx" EXACT [NCIT:C3291]
synonym: "tumour of oropharynx" EXACT OMO:0003005 []
synonym: "tumour of the oropharynx" EXACT OMO:0003005 []
xref: MEDGEN:14519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3291 {source="MONDO:equivalentTo"}
xref: SCTID:126809003 {source="MONDO:equivalentTo"}
xref: UMLS:C0029295 {source="MEDGEN:14519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="MONDO:Entailed"} ! digestive system disorder
is_a: MONDO:0005087 {source="MONDO:Redundant"} ! respiratory system disorder
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3291"} ! pharynx neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001729 ! oropharynx

[Term]
id: MONDO:0021366
name: neoplasm of middle ear
def: "A neoplasm (disease) that involves the middle ear." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "middle Ear neoplasm" EXACT [NCIT:C4412]
synonym: "middle ear neoplasm" EXACT []
synonym: "middle ear neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "middle Ear tumor" EXACT [NCIT:C4412]
synonym: "middle ear tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "middle Ear tumour" EXACT OMO:0003005 []
synonym: "middle ear tumour" EXACT OMO:0003005 []
synonym: "neoplasm of middle ear" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the middle Ear" EXACT [NCIT:C4412]
synonym: "tumor of middle Ear" EXACT [NCIT:C4412]
synonym: "tumor of middle ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the middle Ear" EXACT [NCIT:C4412]
synonym: "tumour of middle Ear" EXACT OMO:0003005 []
synonym: "tumour of middle ear" EXACT OMO:0003005 []
synonym: "tumour of the middle Ear" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4412 {source="MONDO:equivalentTo"}
xref: SCTID:127006003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87509"}
is_a: MONDO:0003276 {source="MONDO:Redundant", source="NCIT:C4412"} ! middle ear disorder
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C4412"} ! ear neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0021367
name: leukemia, myeloid, accelerated-phase
def: "The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis." [MESH:D015465]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Accelerated Phase Chronic Granulocytic Leukaemia" RELATED OMO:0003005 []
synonym: "Accelerated Phase Chronic Granulocytic Leukemia" RELATED [NCIT:C3173]
synonym: "Accelerated Phase Chronic Myelocytic Leukaemia" RELATED OMO:0003005 []
synonym: "Accelerated Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173]
synonym: "Accelerated Phase Chronic Myelogenous Leukaemia" RELATED OMO:0003005 []
synonym: "Accelerated Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173]
synonym: "Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" RELATED [NCIT:C3173]
synonym: "Accelerated Phase Chronic Myeloid Leukaemia" RELATED OMO:0003005 []
synonym: "Accelerated phase chronic myeloid leukaemia" RELATED OMO:0003005 []
synonym: "Accelerated Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173]
synonym: "Accelerated phase chronic myeloid leukemia" RELATED [UMLS:C0023472]
synonym: "Accelerated Phase CML" RELATED [NCIT:C3173]
synonym: "Aggressive-Phase Chronic Myelocytic Leukaemia" RELATED OMO:0003005 []
synonym: "Aggressive-Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173]
synonym: "Aggressive-Phase Chronic Myelogenous Leukaemia" RELATED OMO:0003005 []
synonym: "Aggressive-Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173]
synonym: "Aggressive-Phase Chronic Myeloid Leukaemia" RELATED OMO:0003005 []
synonym: "Aggressive-Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173]
synonym: "Aggressive-Phase CML" RELATED [NCIT:C3173]
synonym: "CML ACCELERATED" RELATED [MESH:D015465]
synonym: "CML AGGRESSIVE" RELATED [MESH:D015465]
synonym: "Leukemia, Myelogenous, Aggressive Phase" RELATED [MESH:D015465]
synonym: "Leukemia, Myelogenous, Aggressive-Phase" RELATED [MESH:D015465]
synonym: "Leukemia, Myeloid, Accelerated Phase" RELATED [MESH:D015465]
synonym: "Leukemia, Myeloid, Accelerated-Phase" RELATED [MESH:D015465]
synonym: "Leukemia, Myeloid, Aggressive-Phase" RELATED [MESH:D015465]
synonym: "Myelogenous Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465]
synonym: "Myelogenous Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465]
synonym: "Myeloid Leukemia, Chronic, Accelerated Phase" RELATED [MESH:D015465]
synonym: "Myeloid Leukemia, Chronic, Accelerated-Phase" RELATED [MESH:D015465]
synonym: "Myeloid Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465]
synonym: "Myeloid Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465]
xref: MEDGEN:6059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015465 {source="UMLS:C0023472", source="MONDO:equivalentTo"}
xref: NCIT:C3173 {source="UMLS:C0023472"}
xref: SCTID:413389003 {source="UMLS:C0023472"}
xref: UMLS:C0023472 {source="MEDGEN:6059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011996 {source="UMLS:C0023472"} ! chronic myelogenous leukemia, BCR-ABL1 positive

[Term]
id: MONDO:0021368
name: neoplasm of major salivary gland
def: "A neoplasm (disease) that involves the major salivary gland." [MONDO:patterns/location]
synonym: "major salivary gland neoplasm" EXACT [NCIT:C4407]
synonym: "major salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "major salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4407]
synonym: "major salivary gland tumour" EXACT OMO:0003005 []
synonym: "neoplasm of major salivary gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the Major salivary gland" EXACT [NCIT:C4407]
synonym: "tumor of Major salivary gland" EXACT [NCIT:C4407]
synonym: "tumor of major salivary gland" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the Major salivary gland" EXACT [NCIT:C4407]
synonym: "tumour of Major salivary gland" EXACT OMO:0003005 []
synonym: "tumour of major salivary gland" EXACT OMO:0003005 []
synonym: "tumour of the Major salivary gland" EXACT OMO:0003005 []
xref: MEDGEN:83383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4407 {source="MONDO:equivalentTo"}
xref: SCTID:126787005 {source="MONDO:equivalentTo"}
xref: UMLS:C0345599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83383"}
is_a: MONDO:0021357 {source="MONDO:Redundant", source="NCIT:C4407"} ! tumor of salivary gland
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001829 ! major salivary gland

[Term]
id: MONDO:0021370
name: neoplasm of minor salivary gland
def: "A neoplasm (disease) that involves the minor salivary gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "minor salivary gland neoplasm" EXACT [NCIT:C4409]
synonym: "minor salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "minor salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4409]
synonym: "minor salivary gland tumour" EXACT OMO:0003005 []
synonym: "neoplasm of minor salivary gland" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the minor salivary gland" EXACT [NCIT:C4409]
synonym: "tumor of minor salivary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4409]
synonym: "tumor of the minor salivary gland" EXACT [NCIT:C4409]
synonym: "tumour of minor salivary gland" EXACT OMO:0003005 []
synonym: "tumour of the minor salivary gland" EXACT OMO:0003005 []
xref: MEDGEN:138022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4409 {source="MONDO:equivalentTo"}
xref: SCTID:126798006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138022"}
is_a: MONDO:0021357 {source="MONDO:Redundant", source="NCIT:C4409"} ! tumor of salivary gland
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland

[Term]
id: MONDO:0021372
name: neoplasm of temporal lobe
def: "A neoplasm (disease) that involves the temporal lobe." [MONDO:patterns/location]
synonym: "neoplasm of temporal lobe" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the temporal lobe" EXACT [NCIT:C5567]
synonym: "temporal lobe neoplasm" EXACT [NCIT:C5567]
synonym: "temporal lobe neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "temporal lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5567]
synonym: "temporal lobe tumour" EXACT OMO:0003005 []
synonym: "tumor of temporal lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5567]
synonym: "tumor of the temporal lobe" EXACT [NCIT:C5567]
synonym: "tumour of temporal lobe" EXACT OMO:0003005 []
synonym: "tumour of the temporal lobe" EXACT OMO:0003005 []
xref: MEDGEN:224731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5567 {source="MONDO:equivalentTo"}
xref: SCTID:126955002 {source="MONDO:equivalentTo"}
xref: UMLS:C1263887 {source="MONDO:equivalentTo", source="MEDGEN:224731", source="MONDO:MEDGEN"}
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C5567"} ! neoplasm of cerebral hemisphere
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001871 ! temporal lobe

[Term]
id: MONDO:0021373
name: neoplasm of parietal lobe
def: "A neoplasm (disease) that involves the parietal lobe." [MONDO:patterns/location]
synonym: "neoplasm of parietal lobe" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the parietal lobe" EXACT [NCIT:C5573]
synonym: "parietal lobe neoplasm" EXACT []
synonym: "parietal lobe neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "parietal lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5573]
synonym: "parietal lobe tumour" EXACT OMO:0003005 []
synonym: "tumor of parietal lobe" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the parietal lobe" EXACT [NCIT:C5573]
synonym: "tumour of parietal lobe" EXACT OMO:0003005 []
synonym: "tumour of the parietal lobe" EXACT OMO:0003005 []
xref: MEDGEN:266073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5573 {source="MONDO:equivalentTo"}
xref: SCTID:126956001 {source="MONDO:equivalentTo"}
xref: UMLS:C1263888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266073"}
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C5573"} ! neoplasm of cerebral hemisphere
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001872 ! parietal lobe

[Term]
id: MONDO:0021374
name: neoplasm of cerebral hemisphere
def: "A neoplasm involving a cerebral hemisphere." [MONDO:patterns/neoplasm]
subset: otar {source="MONDO:OTAR"}
synonym: "cerebral hemisphere neoplasm" EXACT []
synonym: "cerebral hemisphere tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cerebral hemisphere tumour" EXACT OMO:0003005 []
synonym: "cerebral hemispheric neoplasm" EXACT [NCIT:C4874]
synonym: "cerebral hemispheric tumor" EXACT [NCIT:C4874]
synonym: "cerebral hemispheric tumour" EXACT OMO:0003005 []
synonym: "cerebral neoplasm" EXACT [NCIT:C4874]
synonym: "cerebral neoplasms" EXACT [NCIT:C4874]
synonym: "cerebral tumor" EXACT [NCIT:C4874]
synonym: "cerebral tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cerebral hemisphere" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of cerebral hemispheres" EXACT [NCIT:C4874]
synonym: "neoplasm of cerebrum" EXACT [NCIT:C4874]
synonym: "neoplasm of telencephalon" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the cerebral hemispheres" EXACT [NCIT:C4874]
synonym: "neoplasm of the cerebrum" EXACT [NCIT:C4874]
synonym: "telencephalon neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "telencephalon tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "telencephalon tumour" EXACT OMO:0003005 []
synonym: "tumor of cerebral hemisphere" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of cerebral hemispheres" EXACT [NCIT:C4874]
synonym: "tumor of cerebrum" EXACT [NCIT:C4874]
synonym: "tumor of telencephalon" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the cerebral hemispheres" EXACT [NCIT:C4874]
synonym: "tumor of the cerebrum" EXACT [NCIT:C4874]
synonym: "tumour of cerebral hemisphere" EXACT OMO:0003005 []
synonym: "tumour of cerebral hemispheres" EXACT OMO:0003005 []
synonym: "tumour of cerebrum" EXACT OMO:0003005 []
synonym: "tumour of telencephalon" EXACT OMO:0003005 []
synonym: "tumour of the cerebral hemispheres" EXACT OMO:0003005 []
synonym: "tumour of the cerebrum" EXACT OMO:0003005 []
xref: MEDGEN:224729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4874 {source="MONDO:equivalentTo"}
xref: SCTID:126953009 {source="MONDO:equivalentTo"}
xref: UMLS:C1263885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224729"}
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C4874/inferred"} ! brain neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001869 ! cerebral hemisphere

[Term]
id: MONDO:0021375
name: tumor of duodenum
def: "A neoplasm (disease) that involves the duodenum." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "duodenal neoplasm" EXACT [NCIT:C2995]
synonym: "duodenal tumor" EXACT [NCIT:C2995]
synonym: "duodenal tumour" EXACT OMO:0003005 []
synonym: "duodenum neoplasm" EXACT []
synonym: "duodenum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "duodenum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "duodenum tumour" EXACT OMO:0003005 []
synonym: "neoplasm of duodenum" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the duodenum" EXACT [NCIT:C2995]
synonym: "tumor of duodenum" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the duodenum" EXACT [NCIT:C2995]
synonym: "tumour of the duodenum" EXACT OMO:0003005 []
xref: MEDGEN:8503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2995 {source="MONDO:equivalentTo"}
xref: SCTID:126833009 {source="MONDO:equivalentTo"}
xref: UMLS:C0013291 {source="MEDGEN:8503", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002866 {source="MONDO:Redundant"} ! duodenal disorder
is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C2995"} ! small intestine neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0021377
name: hypertrophic lichen planus
def: "A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring." [NCIT:C34779]
synonym: "Hypertrophic Lichen Planus" RELATED [NCIT:C34779]
synonym: "Hypertrophic lichen planus" RELATED [UMLS:C0023649]
synonym: "hypertrophic lichen planus" EXACT [NCIT:C34779]
synonym: "Lichen planus hypertrophicus" RELATED [UMLS:C0023649]
synonym: "lichen planus hypertrophicus" RELATED []
xref: MEDGEN:9756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34779 {source="UMLS:C0023649", source="MONDO:equivalentTo"}
xref: SCTID:68266006 {source="UMLS:C0023649", source="MONDO:equivalentTo"}
xref: UMLS:C0023649 {source="MEDGEN:9756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006572 {source="NCIT:C34779", source="UMLS:C0023649"} ! lichen planus

[Term]
id: MONDO:0021378
name: neoplasm of endocardium
def: "A neoplasm (disease) that involves the endocardium." [MONDO:patterns/location]
synonym: "endocardial neoplasm" EXACT [NCIT:C5346]
synonym: "endocardial tumor" EXACT [NCIT:C5346]
synonym: "endocardial tumour" EXACT OMO:0003005 []
synonym: "endocardium neoplasm" EXACT []
synonym: "endocardium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "endocardium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "endocardium tumour" EXACT OMO:0003005 []
synonym: "neoplasm of endocardium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the endocardium" EXACT [NCIT:C5346]
synonym: "tumor of endocardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5346]
synonym: "tumor of the endocardium" EXACT [NCIT:C5346]
synonym: "tumour of endocardium" EXACT OMO:0003005 []
synonym: "tumour of the endocardium" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5346 {source="MONDO:equivalentTo"}
xref: SCTID:126731002 {source="MONDO:equivalentTo"}
xref: UMLS:C1290401 {source="MEDGEN:220938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C5346"} ! heart neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002165 ! endocardium

[Term]
id: MONDO:0021379
name: neoplasm of epicardium
def: "A neoplasm (disease) that involves the epicardium." [MONDO:patterns/location]
synonym: "epicardial neoplasm" EXACT [NCIT:C5347]
synonym: "epicardial tumor" EXACT [NCIT:C5347]
synonym: "epicardial tumour" EXACT OMO:0003005 []
synonym: "epicardium neoplasm" EXACT []
synonym: "epicardium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "epicardium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "epicardium tumour" EXACT OMO:0003005 []
synonym: "neoplasm of epicardium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the epicardium" EXACT [NCIT:C5347]
synonym: "tumor of epicardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5347]
synonym: "tumor of the epicardium" EXACT [NCIT:C5347]
synonym: "tumour of epicardium" EXACT OMO:0003005 []
synonym: "tumour of the epicardium" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5347 {source="MONDO:equivalentTo"}
xref: SCTID:126733004 {source="MONDO:equivalentTo"}
xref: UMLS:C1290403 {source="MEDGEN:224850", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C5347"} ! heart neoplasm
is_a: MONDO:0021381 {source="MONDO:Redundant"} ! neoplasm of pericardium
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002348 ! epicardium

[Term]
id: MONDO:0021380
name: neoplasm of myocardium
def: "A neoplasm (disease) that involves the myocardium." [MONDO:patterns/location]
synonym: "myocardial neoplasm" EXACT [NCIT:C5349]
synonym: "myocardial tumor" EXACT [NCIT:C5349]
synonym: "myocardial tumour" EXACT OMO:0003005 []
synonym: "myocardium neoplasm" EXACT []
synonym: "myocardium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "myocardium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "myocardium tumour" EXACT OMO:0003005 []
synonym: "neoplasm of myocardium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the myocardium" EXACT [NCIT:C5349]
synonym: "tumor of myocardium" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the myocardium" EXACT [NCIT:C5349]
synonym: "tumour of myocardium" EXACT OMO:0003005 []
synonym: "tumour of the myocardium" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:266216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5349 {source="MONDO:equivalentTo"}
xref: SCTID:126732009 {source="MONDO:equivalentTo"}
xref: UMLS:C1290402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266216"}
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C5349"} ! heart neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002349 ! myocardium

[Term]
id: MONDO:0021381
name: neoplasm of pericardium
def: "A neoplasm (disease) that involves the pericardium." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of pericardium" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the pericardium" EXACT [NCIT:C4651]
synonym: "pericardial neoplasm" EXACT [NCIT:C4651]
synonym: "pericardial tumor" EXACT [NCIT:C4651]
synonym: "pericardial tumour" EXACT OMO:0003005 []
synonym: "pericardium neoplasm" EXACT []
synonym: "pericardium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "pericardium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "pericardium tumour" EXACT OMO:0003005 []
synonym: "tumor of pericardium" EXACT [MONDO:patterns/neoplasm, NCIT:C4651]
synonym: "tumor of the pericardium" EXACT [NCIT:C4651]
synonym: "tumour of pericardium" EXACT OMO:0003005 []
synonym: "tumour of the pericardium" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4651 {source="MONDO:equivalentTo"}
xref: SCTID:126734005 {source="MONDO:equivalentTo"}
xref: UMLS:C0349574 {source="MEDGEN:91156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C4651/inferred"} ! neoplasm of thorax
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002407 ! pericardium

[Term]
id: MONDO:0021383
name: neoplasm of floor of mouth
def: "A neoplasm (disease) that involves the mouth floor." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "floor of mouth neoplasm" EXACT [NCIT:C4401]
synonym: "floor of mouth tumor" EXACT [NCIT:C4401]
synonym: "floor of mouth tumour" EXACT OMO:0003005 []
synonym: "floor of the mouth neoplasm" EXACT [NCIT:C4401]
synonym: "floor of the mouth tumor" EXACT [NCIT:C4401]
synonym: "floor of the mouth tumour" EXACT OMO:0003005 []
synonym: "mouth floor neoplasm" EXACT []
synonym: "mouth floor neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "mouth floor tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "mouth floor tumour" EXACT OMO:0003005 []
synonym: "neoplasm of mouth floor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the floor of the mouth" EXACT [NCIT:C4401]
synonym: "tumor of floor of mouth" EXACT [NCIT:C4401]
synonym: "tumor of mouth floor" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the floor of the mouth" EXACT [NCIT:C4401]
synonym: "tumour of floor of mouth" EXACT OMO:0003005 []
synonym: "tumour of mouth floor" EXACT OMO:0003005 []
synonym: "tumour of the floor of the mouth" EXACT OMO:0003005 []
xref: MEDGEN:91045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4401 {source="MONDO:equivalentTo"}
xref: SCTID:126799003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345538 {source="MEDGEN:91045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4401/inferred"} ! head and neck neoplasm
is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C4401/inferred"} ! mouth disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003679 ! mouth floor

[Term]
id: MONDO:0021385
name: extrahepatic bile duct neoplasm
def: "A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma." [NCIT:C4441]
subset: otar {source="MONDO:OTAR"}
synonym: "extrahepatic bile duct neoplasm" EXACT [NCIT:C4441]
synonym: "extrahepatic bile duct neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "extrahepatic bile duct tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4441]
synonym: "extrahepatic bile duct tumour" EXACT OMO:0003005 []
synonym: "neoplasm of extrahepatic bile duct" EXACT [MONDO:patterns/neoplasm, NCIT:C4441]
synonym: "neoplasm of the extrahepatic bile duct" EXACT [NCIT:C4441]
synonym: "tumor of extrahepatic bile duct" EXACT [MONDO:patterns/neoplasm, NCIT:C4441]
synonym: "tumor of the extrahepatic bile duct" EXACT [NCIT:C4441]
synonym: "tumour of extrahepatic bile duct" EXACT OMO:0003005 []
synonym: "tumour of the extrahepatic bile duct" EXACT OMO:0003005 []
xref: MEDGEN:91056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4441 {source="MONDO:equivalentTo"}
xref: SCTID:126855001 {source="MONDO:equivalentTo"}
xref: UMLS:C0345913 {source="MEDGEN:91056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021662 {source="MONDO:Redundant", source="NCIT:C4441"} ! bile duct neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3673" xsd:anyURI

[Term]
id: MONDO:0021386
name: neoplasm of mediastinum
def: "A neoplasm (disease) that involves the mediastinum." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "mediastinal neoplasm" EXACT [NCIT:C3221]
synonym: "mediastinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3221]
synonym: "mediastinal tumor" EXACT [NCIT:C3221]
synonym: "mediastinal tumour" EXACT OMO:0003005 []
synonym: "mediastinum neoplasm" EXACT []
synonym: "mediastinum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "mediastinum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "mediastinum tumour" EXACT OMO:0003005 []
synonym: "neoplasm of mediastinum" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the mediastinum" EXACT [NCIT:C3221]
synonym: "tumor of mediastinum" EXACT [MONDO:patterns/neoplasm, NCIT:C3221]
synonym: "tumor of the mediastinum" EXACT [NCIT:C3221]
synonym: "tumour of mediastinum" EXACT OMO:0003005 []
synonym: "tumour of the mediastinum" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:44322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3221 {source="MONDO:equivalentTo"}
xref: SCTID:126725000 {source="MONDO:equivalentTo"}
xref: UMLS:C0025063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44322"}
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3221"} ! neoplasm of thorax
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0021388
name: neoplasm of chest wall
def: "A neoplasm (disease) that involves the chest wall." [MONDO:patterns/location]
synonym: "chest wall neoplasm" EXACT [NCIT:C4929]
synonym: "chest wall neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "chest wall tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4929]
synonym: "chest wall tumour" EXACT OMO:0003005 []
synonym: "neoplasm of chest wall" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the chest wall" EXACT [NCIT:C4929]
synonym: "tumor of chest wall" EXACT [MONDO:patterns/neoplasm, NCIT:C4929]
synonym: "tumor of the chest wall" EXACT [NCIT:C4929]
synonym: "tumour of chest wall" EXACT OMO:0003005 []
synonym: "tumour of the chest wall" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4929 {source="MONDO:equivalentTo"}
xref: SCTID:126640008 {source="MONDO:equivalentTo"}
xref: UMLS:C1290309 {source="MEDGEN:220935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C4929"} ! neoplasm of thorax
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0016435 ! chest wall

[Term]
id: MONDO:0021389
name: neoplasm of aortic body
def: "A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels." [NCIT:C4218]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "aortic body neoplasm" EXACT [NCIT:C4218]
synonym: "aortic body neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "aortic body paraganglioma" EXACT [NCIT:C4218]
synonym: "aortic body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4218]
synonym: "aortic body tumour" EXACT OMO:0003005 []
synonym: "aorticopulmonary paraganglioma" EXACT [NCIT:C4218]
synonym: "neoplasm of aortic body" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the aortic body" EXACT [NCIT:C4218]
synonym: "paraganglioma of aortic body" EXACT [NCIT:C4218]
synonym: "paraganglioma of the aortic body" EXACT [NCIT:C4218]
synonym: "tumor of aortic body" EXACT [MONDO:patterns/neoplasm, NCIT:C4218]
synonym: "tumor of the aortic body" EXACT [NCIT:C4218]
synonym: "tumour of aortic body" EXACT OMO:0003005 []
synonym: "tumour of the aortic body" EXACT OMO:0003005 []
xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8691/1 {source="NCIT:C4218"}
xref: MEDGEN:87236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4218 {source="MONDO:equivalentTo"}
xref: SCTID:127029006 {source="MONDO:equivalentTo"}
xref: UMLS:C0334417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87236"}
is_a: MONDO:0021052 {source="NCIT:C4218"} ! parasympathetic paraganglioma
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0034971 ! aortic body

[Term]
id: MONDO:0021390
name: polyp of ureter
def: "A polyp that involves the ureter." [MONDO:patterns/location]
synonym: "polyp of the ureter" EXACT [NCIT:C4530]
synonym: "ureter polyp" EXACT [MONDO:patterns/location, NCIT:C4530]
synonym: "ureteral polyp" EXACT [NCIT:C4530]
xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4530 {source="MONDO:equivalentTo"}
xref: SCTID:197821004 {source="MONDO:equivalentTo"}
xref: UMLS:C0346269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138051"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C4530"} ! polyp
is_a: MONDO:0021111 {source="MONDO:Redundant", source="NCIT:C4530/inferred"} ! ureter neoplasm
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0000056 ! ureter

[Term]
id: MONDO:0021392
name: polyp of large intestine
def: "A polyp that involves the large intestine." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal polyp" EXACT [NCIT:C5679]
synonym: "large bowel polyp" EXACT [NCIT:C5679]
synonym: "large intestine polyp" EXACT [MONDO:patterns/location, NCIT:C5679]
synonym: "polyp of large bowel" EXACT [NCIT:C5679]
synonym: "polyp of the large bowel" EXACT [NCIT:C5679]
synonym: "polyp of the large intestine" EXACT [NCIT:C5679]
xref: MEDGEN:182694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5679 {source="MONDO:equivalentTo"}
xref: SCTID:399505005 {source="MONDO:equivalentTo"}
xref: UMLS:C0949059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:182694"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C5679/inferred"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0021394
name: polyp of vagina
def: "A polyp that involves the vagina." [MONDO:patterns/location]
synonym: "polyp of the vagina" EXACT [NCIT:C3664]
synonym: "polyp, vaginal, benign" EXACT [NCIT:C3664]
synonym: "vagina polyp" EXACT [MONDO:patterns/location]
synonym: "vaginal polyp" EXACT [NCIT:C3664]
xref: ICD10CM:N84.2 {source="MONDO:equivalentTo"}
xref: ICD9:623.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3664 {source="MONDO:equivalentTo"}
xref: SCTID:29609001 {source="MONDO:equivalentTo"}
xref: UMLS:C0156390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56378"}
is_a: MONDO:0005079 {source="ICD10CM:N84.2", source="MONDO:Redundant", source="NCIT:C3664"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0021396
name: polyp of vulva
def: "A polyp that involves the mammalian vulva." [MONDO:patterns/location]
synonym: "mammalian vulva polyp" EXACT [MONDO:patterns/location]
synonym: "polyp of the vulva" EXACT [NCIT:C3978]
synonym: "vulva polyp" EXACT [NCIT:C3978]
synonym: "vulvar polyp" EXACT [NCIT:C3978]
xref: ICD10CM:N84.3 {source="MONDO:equivalentTo"}
xref: ICD9:624.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:124351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3978 {source="MONDO:equivalentTo"}
xref: SCTID:57158005 {source="MONDO:equivalentTo"}
xref: UMLS:C0269218 {source="MEDGEN:124351", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="ICD10CM:N84.3", source="MONDO:Redundant", source="NCIT:C3978"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0021398
name: polyp of rectum
def: "A polyp that involves the rectum." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "polyp of the rectum" EXACT [NCIT:C3351]
synonym: "rectal polyp" EXACT [NCIT:C3351]
synonym: "rectum polyp" EXACT [MONDO:patterns/location]
xref: MEDGEN:11150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3351 {source="MONDO:equivalentTo"}
xref: SCTID:39772007 {source="MONDO:equivalentTo"}
xref: UMLS:C0034887 {source="MEDGEN:11150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C3351"} ! polyp of large intestine
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0021400
name: polyp of colon
def: "A polyp that involves the colon." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "colon polyp" EXACT [MONDO:patterns/location, NCIT:C2954]
synonym: "colonic polyp" EXACT [NCIT:C2954]
synonym: "polyp of the colon" EXACT [NCIT:C2954]
xref: ICD10CM:K63.5 {source="MONDO:equivalentTo"}
xref: MEDGEN:3166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003111 {source="MONDO:equivalentTo"}
xref: NCIT:C2954 {source="MONDO:equivalentTo"}
xref: SCTID:68496003 {source="MONDO:equivalentTo"}
xref: UMLS:C0009376 {source="MEDGEN:3166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021392 {source="MONDO:Redundant", source="NCIT:C2954"} ! polyp of large intestine
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001155 ! colon

[Term]
id: MONDO:0021402
name: polyp of external auditory canal
def: "A polyp that involves the external acoustic meatus." [MONDO:patterns/location]
synonym: "external acoustic meatus polyp" EXACT [MONDO:patterns/location]
synonym: "external auditory canal polyp" EXACT [NCIT:C4366]
synonym: "external Ear polyp" EXACT [NCIT:C4366]
synonym: "polyp of the external auditory canal" EXACT [NCIT:C4366]
xref: MEDGEN:87394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4366 {source="MONDO:equivalentTo"}
xref: SCTID:95211004 {source="MONDO:equivalentTo"}
xref: UMLS:C0339765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87394"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C4366/inferred"} ! polyp
is_a: MONDO:0021235 {source="MONDO:Redundant", source="NCIT:C4366/inferred"} ! external ear neoplasm
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001352 ! external acoustic meatus

[Term]
id: MONDO:0021404
name: polyp of sphenoidal sinus
def: "A polyp that involves the sphenoidal sinus." [MONDO:patterns/location]
synonym: "polyp of sphenoid sinus" EXACT [NCIT:C3933]
synonym: "polyp of the sphenoid sinus" EXACT [NCIT:C3933]
synonym: "polyp of the sphenoidal sinus" EXACT [NCIT:C3933]
synonym: "sphenoid sinus polyp" EXACT [NCIT:C3933]
synonym: "sphenoidal sinus polyp" EXACT [MONDO:patterns/location, NCIT:C3933]
xref: ICD9:471.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3933 {source="MONDO:equivalentTo"}
xref: SCTID:90685008 {source="MONDO:equivalentTo"}
xref: UMLS:C0264255 {source="MEDGEN:75538", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3933/inferred"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus

[Term]
id: MONDO:0021408
name: polyp of frontal sinus
def: "A polyp that involves the frontal sinus." [MONDO:patterns/location]
synonym: "frontal sinus polyp" EXACT [MONDO:patterns/location, NCIT:C4367]
synonym: "polyp of the frontal sinus" EXACT [NCIT:C4367]
xref: ICD9:471.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4367 {source="MONDO:equivalentTo"}
xref: SCTID:195759002 {source="MONDO:equivalentTo"}
xref: UMLS:C0339814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137927"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C4367/inferred"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001760 ! frontal sinus

[Term]
id: MONDO:0021412
name: polyp of maxillary sinus
def: "A polyp that involves the maxillary sinus." [MONDO:patterns/location]
synonym: "maxillary antral polyp" EXACT [NCIT:C3931]
synonym: "maxillary sinus polyp" EXACT [MONDO:patterns/location, NCIT:C3931]
synonym: "polyp of the maxillary sinus" EXACT [NCIT:C3931]
xref: ICD9:471.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3931 {source="MONDO:equivalentTo"}
xref: SCTID:29074008 {source="MONDO:equivalentTo"}
xref: UMLS:C0264239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120498"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3931/inferred"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0021416
name: polyp of gallbladder
def: "A polyp that involves the gall bladder." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "gall bladder polyp" EXACT [MONDO:patterns/location]
synonym: "gallbladder polyp" EXACT [NCIT:C3909]
synonym: "polyp of the gallbladder" EXACT [NCIT:C3909]
xref: MEDGEN:120463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3909 {source="MONDO:equivalentTo"}
xref: SCTID:197433003 {source="MONDO:equivalentTo"}
xref: UMLS:C0262493 {source="MEDGEN:120463", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3909/inferred"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0021418
name: polyp of ethmoidal sinus
def: "A polyp that involves the ethmoid sinus." [MONDO:patterns/location]
synonym: "ethmoid sinus polyp" EXACT [MONDO:patterns/location, NCIT:C3932]
synonym: "ethmoidal polyp" EXACT [NCIT:C3932]
synonym: "ethmoidal sinus polyp" EXACT [NCIT:C3932]
synonym: "polyp of ethmoid sinus" EXACT [NCIT:C3932]
synonym: "polyp of the ethmoid sinus" EXACT [NCIT:C3932]
synonym: "polyp of the ethmoidal sinus" EXACT [NCIT:C3932]
xref: ICD9:471.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3932 {source="MONDO:equivalentTo"}
xref: SCTID:23966000 {source="MONDO:equivalentTo"}
xref: UMLS:C0264248 {source="MEDGEN:82675", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3932/inferred"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus

[Term]
id: MONDO:0021420
name: polyp of vocal cord
def: "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." [NCIT:C3440]
subset: otar {source="MONDO:OTAR"}
synonym: "laryngeal vocal fold polyp" EXACT [MONDO:patterns/location]
synonym: "polyp of the vocal cord" EXACT [NCIT:C3440]
synonym: "vocal cord polyp" EXACT [NCIT:C3440]
xref: EFO:0009478 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:21887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3440 {source="MONDO:equivalentTo"}
xref: SCTID:9078005 {source="MONDO:equivalentTo"}
xref: UMLS:C0042929 {source="MEDGEN:21887", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C3440"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0003706 ! laryngeal vocal fold

[Term]
id: MONDO:0021421
name: obsolete carcinoid tumors, intestina
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4207" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021533

[Term]
id: MONDO:0021424
name: hemangiopericytoma of skin
def: "A hemangiopericytoma that involves the zone of skin." [MONDO:patterns/location]
synonym: "hemangiopericytoma of the skin" EXACT [NCIT:C4492]
synonym: "skin hemangiopericytoma" EXACT [NCIT:C4492]
synonym: "zone of skin hemangiopericytoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:91081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4492 {source="MONDO:equivalentTo"}
xref: SCTID:254796009 {source="MONDO:equivalentTo"}
xref: UMLS:C0346084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91081"}
is_a: MONDO:0005094 {source="MONDO:Redundant", source="NCIT:C4492"} ! hemangiopericytoma
intersection_of: MONDO:0005094 ! hemangiopericytoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0021427
name: squamous cell carcinoma of lip
def: "A squamous cell carcinoma that involves the lip." [MONDO:patterns/location]
subset: gard_rare {source="GARD:17933", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:502366"}
subset: orphanet_rare {source="Orphanet:502366"}
subset: rare
synonym: "lip scc" EXACT [NCIT:C4042]
synonym: "lip squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4042]
synonym: "scc of Lip" EXACT [NCIT:C4042]
synonym: "scc of the Lip" EXACT [NCIT:C4042]
synonym: "squamous cell carcinoma of the Lip" EXACT [NCIT:C4042]
xref: GARD:17933 {source="MONDO:GARD"}
xref: icd11.foundation:1635251327 {source="MONDO:equivalentTo", source="Orphanet:502366"}
xref: MEDGEN:79099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4042 {source="MONDO:equivalentTo"}
xref: Orphanet:502366 {source="MONDO:equivalentTo"}
xref: SCTID:255071008 {source="MONDO:equivalentTo"}
xref: UMLS:C0280302 {source="MEDGEN:79099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004958 {source="MONDO:Redundant"} ! oral cavity squamous cell carcinoma
is_a: MONDO:0021333 {source="MONDO:Redundant", source="NCIT:C4042"} ! carcinoma of lip
is_a: MONDO:0044710 {source="NCIT:C4042", source="Orphanet:502366"} ! lip and oral cavity squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001833 ! lip

[Term]
id: MONDO:0021429
name: squamous cell carcinoma of floor of mouth
def: "A squamous cell carcinoma that involves the mouth floor." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "floor of mouth scc" EXACT [NCIT:C4041]
synonym: "floor of mouth squamous cell carcinoma" EXACT [NCIT:C4041]
synonym: "mouth floor squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "scc of floor of mouth" EXACT [NCIT:C4041]
synonym: "scc of the floor of mouth" EXACT [NCIT:C4041]
synonym: "squamous cell carcinoma of the floor of mouth" EXACT [NCIT:C4041]
xref: MEDGEN:124715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4041 {source="MONDO:equivalentTo"}
xref: SCTID:276954004 {source="MONDO:equivalentTo"}
xref: UMLS:C0280300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124715"}
is_a: MONDO:0004958 {source="MONDO:Redundant", source="NCIT:C4041"} ! oral cavity squamous cell carcinoma
is_a: MONDO:0021343 {source="MONDO:Redundant", source="NCIT:C4041"} ! carcinoma of floor of mouth
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0003679 ! mouth floor

[Term]
id: MONDO:0021431
name: squamous cell carcinoma of buccal mucosa
def: "A squamous cell carcinoma that involves the buccal mucosa." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "buccal mucosa squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4040]
synonym: "scc of buccal mucosa" EXACT [NCIT:C4040]
synonym: "scc of the buccal mucosa" EXACT [NCIT:C4040]
synonym: "squamous cell carcinoma of the buccal mucosa" EXACT [NCIT:C4040]
xref: MEDGEN:83627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4040 {source="MONDO:equivalentTo"}
xref: SCTID:254437001 {source="MONDO:equivalentTo"}
xref: UMLS:C0280299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83627"}
is_a: MONDO:0004645 {source="MONDO:Redundant", source="NCIT:C4040"} ! cheek mucosa cancer
is_a: MONDO:0004958 {source="MONDO:Redundant", source="NCIT:C4040"} ! oral cavity squamous cell carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0006956 ! buccal mucosa

[Term]
id: MONDO:0021437
name: lipoma of stomach
def: "A lipoma that involves the stomach." [MONDO:patterns/location]
synonym: "gastric lipoma" EXACT [NCIT:C5258]
synonym: "lipoma of the stomach" EXACT [NCIT:C5258]
synonym: "stomach lipoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:234299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5258 {source="MONDO:equivalentTo"}
xref: SCTID:695751021000132104 {source="MONDO:equivalentTo"}
xref: UMLS:C1333777 {source="MEDGEN:234299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005106 {source="MONDO:Redundant", source="NCIT:C5258"} ! lipoma
is_a: MONDO:0021449 {source="MONDO:Redundant", source="NCIT:C5258/inferred"} ! benign neoplasm of stomach
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0021439
name: benign neoplasm of pituitary gland
def: "A benign neoplasm that involves the pituitary gland." [MONDO:patterns/location]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "benign neoplasm of pituitary" EXACT [NCIT:C4782]
synonym: "benign neoplasm of the pituitary" EXACT [NCIT:C4782]
synonym: "benign neoplasm of the pituitary gland" EXACT [NCIT:C4782]
synonym: "benign pituitary gland neoplasm" EXACT [NCIT:C4782]
synonym: "benign pituitary gland tumor" EXACT [NCIT:C4782]
synonym: "benign pituitary gland tumour" EXACT OMO:0003005 []
synonym: "benign pituitary neoplasm" EXACT [NCIT:C4782]
synonym: "benign pituitary tumor" EXACT [NCIT:C4782]
synonym: "benign pituitary tumour" EXACT OMO:0003005 []
synonym: "benign tumor of pituitary" EXACT [NCIT:C4782]
synonym: "benign tumor of pituitary gland" EXACT [NCIT:C4782]
synonym: "benign tumor of the pituitary" EXACT [NCIT:C4782]
synonym: "benign tumor of the pituitary gland" EXACT [NCIT:C4782]
synonym: "benign tumour of pituitary" EXACT OMO:0003005 []
synonym: "benign tumour of pituitary gland" EXACT OMO:0003005 []
synonym: "benign tumour of the pituitary" EXACT OMO:0003005 []
synonym: "benign tumour of the pituitary gland" EXACT OMO:0003005 []
synonym: "pituitary gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "pituitary neoplasms, benign" EXACT [NCIT:C4782]
synonym: "pituitary tumor, benign" EXACT [NCIT:C4782]
xref: DOID:60009 {source="MONDO:equivalentTo"}
xref: ICD10CM:D35.2 {source="MONDO:equivalentTo"}
xref: MEDGEN:141679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4782 {source="MONDO:equivalentTo"}
xref: SCTID:92296004 {source="MONDO:equivalentTo"}
xref: UMLS:C0496901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141679"}
is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm
is_a: MONDO:0003381 {source="MONDO:Entailed", source="NCIT:C4782/inferred"} ! pituitary gland disorder
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C4782/inferred"} ! benign neoplasm of brain
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland

[Term]
id: MONDO:0021440
name: benign neoplasm of skin
def: "A benign neoplasm that involves the zone of skin." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign cutaneous neoplasm" EXACT [NCIT:C2896]
synonym: "benign cutaneous tumor" EXACT [NCIT:C2896]
synonym: "benign cutaneous tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the skin" EXACT [NCIT:C2896]
synonym: "benign skin neoplasm" EXACT [NCIT:C2896]
synonym: "benign skin tumor" EXACT [NCIT:C2896]
synonym: "benign skin tumour" EXACT OMO:0003005 []
synonym: "benign tumor of skin" EXACT [NCIT:C2896]
synonym: "benign tumor of the skin" EXACT [NCIT:C2896]
synonym: "benign tumour of skin" EXACT OMO:0003005 []
synonym: "benign tumour of the skin" EXACT OMO:0003005 []
synonym: "skin neoplasms, benign" EXACT [NCIT:C2896]
synonym: "zone of skin benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:216.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:216.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2896 {source="MONDO:equivalentTo"}
xref: SCTID:92384009 {source="MONDO:equivalentTo"}
xref: UMLS:C0004998 {source="MEDGEN:2197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002531 {source="MONDO:Redundant", source="NCIT:C2896"} ! skin neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0021441
name: benign neoplasm of exocrine pancreas
def: "A benign neoplasm that involves the exocrine pancreas." [MONDO:patterns/location]
synonym: "benign exocrine pancreas neoplasm" EXACT [NCIT:C4613]
synonym: "benign exocrine pancreas tumor" EXACT [NCIT:C4613]
synonym: "benign exocrine pancreas tumour" EXACT OMO:0003005 []
synonym: "benign exocrine pancreatic neoplasm" EXACT [NCIT:C4613]
synonym: "benign neoplasm of the exocrine pancreas" EXACT [NCIT:C4613]
synonym: "benign tumor of exocrine pancreas" EXACT [NCIT:C4613]
synonym: "benign tumor of the exocrine pancreas" EXACT [NCIT:C4613]
synonym: "benign tumour of exocrine pancreas" EXACT OMO:0003005 []
synonym: "benign tumour of the exocrine pancreas" EXACT OMO:0003005 []
synonym: "exocrine pancreas benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0080781 {source="MONDO:equivalentTo"}
xref: MEDGEN:138080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4613 {source="MONDO:equivalentTo"}
xref: SCTID:271956003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347285 {source="MEDGEN:138080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021076 {source="MONDO:Redundant", source="NCIT:C4613"} ! pancreatic exocrine neoplasm
is_a: MONDO:0021470 {source="MONDO:Redundant", source="NCIT:C4613"} ! benign neoplasm of pancreas
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000017 ! exocrine pancreas

[Term]
id: MONDO:0021443
name: benign neoplasm of lymph node
def: "A benign neoplasm that involves the lymph node." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "benign lymph node neoplasm" EXACT [NCIT:C3636]
synonym: "benign lymph node neoplasm NOS" RELATED EXCLUDE [NCIT:C3636]
synonym: "benign lymph node tumor" EXACT [NCIT:C3636]
synonym: "benign lymph node tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the lymph node" EXACT [NCIT:C3636]
synonym: "benign tumor of lymph node" EXACT [NCIT:C3636]
synonym: "benign tumor of the lymph node" EXACT [NCIT:C3636]
synonym: "benign tumour of lymph node" EXACT OMO:0003005 []
synonym: "benign tumour of the lymph node" EXACT OMO:0003005 []
synonym: "lymph node benign neoplasm" EXACT [MONDO:patterns/location]
xref: DOID:0080617 {source="MONDO:equivalentTo"}
xref: ICD9:229.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3636 {source="MONDO:equivalentTo"}
xref: SCTID:92197001 {source="MONDO:equivalentTo"}
xref: UMLS:C0154054 {source="MEDGEN:57815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004928 {source="MONDO:Redundant", source="NCIT:C3636/inferred"} ! lymph node disorder
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000029 ! lymph node

[Term]
id: MONDO:0021444
name: benign neoplasm of large intestine
def: "A benign neoplasm that involves the large intestine." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign colorectal neoplasm" EXACT [NCIT:C4610]
synonym: "benign colorectal neoplasms" EXACT [NCIT:C4610]
synonym: "benign colorectal tumor" EXACT [NCIT:C4610]
synonym: "benign colorectal tumors" EXACT [NCIT:C4610]
synonym: "benign colorectal tumour" EXACT OMO:0003005 []
synonym: "benign colorectal tumours" EXACT OMO:0003005 []
synonym: "benign large bowel neoplasm" EXACT [NCIT:C4610]
synonym: "benign large bowel tumor" EXACT [NCIT:C4610]
synonym: "benign large bowel tumour" EXACT OMO:0003005 []
synonym: "benign large intestine neoplasm" EXACT [NCIT:C4610]
synonym: "benign large intestine tumor" EXACT [NCIT:C4610]
synonym: "benign large intestine tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of large bowel" EXACT [NCIT:C4610]
synonym: "benign neoplasm of the large bowel" EXACT [NCIT:C4610]
synonym: "benign neoplasm of the large intestine" EXACT [NCIT:C4610]
synonym: "benign tumor of large bowel" EXACT [NCIT:C4610]
synonym: "benign tumor of large intestine" EXACT [NCIT:C4610]
synonym: "benign tumor of the large bowel" EXACT [NCIT:C4610]
synonym: "benign tumor of the large intestine" EXACT [NCIT:C4610]
synonym: "benign tumour of large bowel" EXACT OMO:0003005 []
synonym: "benign tumour of large intestine" EXACT OMO:0003005 []
synonym: "benign tumour of the large bowel" EXACT OMO:0003005 []
synonym: "benign tumour of the large intestine" EXACT OMO:0003005 []
synonym: "colorectal neoplasms, benign" EXACT [NCIT:C4610]
synonym: "colorectal tumors, benign" EXACT [NCIT:C4610]
synonym: "large intestine benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "neoplasms, colorectal, benign" EXACT [NCIT:C4610]
synonym: "tumors, colorectal, benign" EXACT [NCIT:C4610]
xref: MEDGEN:91125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4610 {source="MONDO:equivalentTo"}
xref: SCTID:92170008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347272 {source="MEDGEN:91125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003062 {source="MONDO:Redundant", source="NCIT:C4610"} ! intestinal benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0021445
name: benign neoplasm of oral cavity
def: "A benign neoplasm that involves the oral cavity." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign mouth neoplasm" EXACT [NCIT:C7607]
synonym: "benign mouth tumor" EXACT [NCIT:C7607]
synonym: "benign mouth tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of mouth" EXACT [NCIT:C7607]
synonym: "benign neoplasm of the mouth" EXACT [NCIT:C7607]
synonym: "benign neoplasm of the oral cavity" EXACT [NCIT:C7607]
synonym: "benign oral cavity neoplasm" EXACT [NCIT:C7607]
synonym: "benign oral cavity tumor" EXACT [NCIT:C7607]
synonym: "benign oral cavity tumour" EXACT OMO:0003005 []
synonym: "benign tumor of mouth" EXACT [NCIT:C7607]
synonym: "benign tumor of oral cavity" EXACT [NCIT:C7607]
synonym: "benign tumor of the mouth" EXACT [NCIT:C7607]
synonym: "benign tumor of the oral cavity" EXACT [NCIT:C7607]
synonym: "benign tumour of mouth" EXACT OMO:0003005 []
synonym: "benign tumour of oral cavity" EXACT OMO:0003005 []
synonym: "benign tumour of the mouth" EXACT OMO:0003005 []
synonym: "benign tumour of the oral cavity" EXACT OMO:0003005 []
synonym: "oral cavity benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7607 {source="MONDO:equivalentTo"}
xref: SCTID:419645003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91119"}
is_a: MONDO:0021245 {source="MONDO:Redundant", source="NCIT:C7607"} ! oral cavity neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000167 ! oral cavity

[Term]
id: MONDO:0021446
name: benign neoplasm of epiglottis
def: "A benign neoplasm that involves the epiglottis." [MONDO:patterns/location]
synonym: "benign epiglottic neoplasm" EXACT [NCIT:C4606]
synonym: "benign epiglottic tumor" EXACT [NCIT:C4606]
synonym: "benign epiglottic tumour" EXACT OMO:0003005 []
synonym: "benign Epiglottis neoplasm" EXACT [NCIT:C4606]
synonym: "benign Epiglottis tumor" EXACT [NCIT:C4606]
synonym: "benign Epiglottis tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the Epiglottis" EXACT [NCIT:C4606]
synonym: "benign tumor of Epiglottis" EXACT [NCIT:C4606]
synonym: "benign tumor of the Epiglottis" EXACT [NCIT:C4606]
synonym: "benign tumour of Epiglottis" EXACT OMO:0003005 []
synonym: "benign tumour of the Epiglottis" EXACT OMO:0003005 []
synonym: "epiglottis benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:83861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4606 {source="MONDO:equivalentTo"}
xref: SCTID:92089006 {source="MONDO:equivalentTo"}
xref: UMLS:C0347236 {source="MEDGEN:83861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002354 {source="MONDO:Redundant", source="NCIT:C4606/inferred"} ! benign laryngeal neoplasm
is_a: MONDO:0004109 {source="MONDO:Redundant", source="NCIT:C4606"} ! epiglottis neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000388 ! epiglottis

[Term]
id: MONDO:0021447
name: benign neoplasm of testis
def: "A benign neoplasm that involves the testis." [MONDO:patterns/location]
synonym: "benign neoplasm of the testis" EXACT [NCIT:C3612]
synonym: "benign testicular neoplasm" EXACT [NCIT:C3612]
synonym: "benign testicular tumor" EXACT [NCIT:C3612]
synonym: "benign testicular tumour" EXACT OMO:0003005 []
synonym: "benign tumor of testis" EXACT [NCIT:C3612]
synonym: "benign tumor of the testis" EXACT [NCIT:C3612]
synonym: "benign tumour of testis" EXACT OMO:0003005 []
synonym: "benign tumour of the testis" EXACT OMO:0003005 []
synonym: "testis benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:222.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3612 {source="MONDO:equivalentTo"}
xref: SCTID:92428008 {source="MONDO:equivalentTo"}
xref: UMLS:C0154007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57576"}
is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C3612"} ! neoplasm of testis
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000473 ! testis

[Term]
id: MONDO:0021449
name: benign neoplasm of stomach
def: "A benign neoplasm that involves the stomach." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign gastric neoplasm" EXACT [NCIT:C3599]
synonym: "benign gastric tumor" EXACT [NCIT:C3599]
synonym: "benign gastric tumors" EXACT [NCIT:C3599]
synonym: "benign gastric tumour" EXACT OMO:0003005 []
synonym: "benign gastric tumours" EXACT OMO:0003005 []
synonym: "benign neoplasm of the stomach" EXACT [NCIT:C3599]
synonym: "benign stomach neoplasms" EXACT [NCIT:C3599]
synonym: "benign stomach tumors" EXACT [NCIT:C3599]
synonym: "benign stomach tumours" EXACT OMO:0003005 []
synonym: "benign tumor of stomach" EXACT [NCIT:C3599]
synonym: "benign tumor of the stomach" EXACT [NCIT:C3599]
synonym: "benign tumors of stomach" EXACT [NCIT:C3599]
synonym: "benign tumors of the stomach" EXACT [NCIT:C3599]
synonym: "benign tumour of stomach" EXACT OMO:0003005 []
synonym: "benign tumour of the stomach" EXACT OMO:0003005 []
synonym: "benign tumours of stomach" EXACT OMO:0003005 []
synonym: "benign tumours of the stomach" EXACT OMO:0003005 []
synonym: "gastric neoplasms, benign" EXACT [NCIT:C3599]
synonym: "gastric tumors, benign" EXACT [NCIT:C3599]
synonym: "stomach benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "stomach neoplasms, benign" EXACT [NCIT:C3599]
synonym: "stomach tumors, benign" EXACT [NCIT:C3599]
xref: ICD10CM:D13.1 {source="MONDO:equivalentTo"}
xref: ICD9:211.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3599 {source="MONDO:equivalentTo"}
xref: SCTID:92411005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153943 {source="MEDGEN:57805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="MONDO:Redundant", source="NCIT:C3599"} ! benign digestive system neoplasm
is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C3599"} ! gastric neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0021450
name: benign neoplasm of heart
def: "A benign neoplasm that involves the heart." [MONDO:patterns/location]
synonym: "benign Cardiac neoplasm" EXACT [NCIT:C3605]
synonym: "benign Cardiac tumor" EXACT [NCIT:C3605]
synonym: "benign Cardiac tumour" EXACT OMO:0003005 []
synonym: "benign heart neoplasm" EXACT [NCIT:C3605]
synonym: "benign heart tumor" EXACT [NCIT:C3605]
synonym: "benign heart tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the heart" EXACT [NCIT:C3605]
synonym: "benign tumor of heart" EXACT [NCIT:C3605]
synonym: "benign tumor of the heart" EXACT [NCIT:C3605]
synonym: "benign tumour of heart" EXACT OMO:0003005 []
synonym: "benign tumour of the heart" EXACT OMO:0003005 []
synonym: "heart benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D15.1 {source="MONDO:equivalentTo"}
xref: ICD9:212.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3605 {source="MONDO:equivalentTo"}
xref: SCTID:92132009 {source="MONDO:equivalentTo"}
xref: UMLS:C0153957 {source="MONDO:equivalentTo", source="MEDGEN:57807", source="MONDO:MEDGEN"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C3605"} ! thoracic benign neoplasm
is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C3605"} ! heart neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000948 ! heart

[Term]
id: MONDO:0021451
name: benign neoplasm of brain
def: "A benign neoplasm that involves the brain." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign brain neoplasm" EXACT [NCIT:C4781]
synonym: "benign brain tumor" EXACT [NCIT:C4781]
synonym: "benign brain tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the brain" EXACT [NCIT:C4781]
synonym: "benign tumor of brain" EXACT [NCIT:C4781]
synonym: "benign tumor of the brain" EXACT [NCIT:C4781]
synonym: "benign tumour of brain" EXACT OMO:0003005 []
synonym: "benign tumour of the brain" EXACT OMO:0003005 []
synonym: "brain benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "brain neoplasms, benign" EXACT [NCIT:C4781]
xref: EFO:1000107 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:225.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:99225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4781 {source="MONDO:equivalentTo"}
xref: SCTID:92030004 {source="MONDO:equivalentTo"}
xref: UMLS:C0496899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99225"}
is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C4781"} ! brain neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0021452
name: benign neoplasm of cornea
def: "A benign neoplasm that involves the cornea." [MONDO:patterns/location]
synonym: "benign cornea neoplasm" EXACT [NCIT:C3623]
synonym: "benign cornea tumor" EXACT [NCIT:C3623]
synonym: "benign cornea tumour" EXACT OMO:0003005 []
synonym: "benign corneal neoplasm" EXACT [NCIT:C3623]
synonym: "benign corneal tumor" EXACT [NCIT:C3623]
synonym: "benign corneal tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the cornea" EXACT [NCIT:C3623]
synonym: "benign tumor of cornea" EXACT [NCIT:C3623]
synonym: "benign tumor of the cornea" EXACT [NCIT:C3623]
synonym: "benign tumour of cornea" EXACT OMO:0003005 []
synonym: "benign tumour of the cornea" EXACT OMO:0003005 []
synonym: "cornea benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3623 {source="MONDO:equivalentTo"}
xref: SCTID:92070006 {source="MONDO:equivalentTo"}
xref: UMLS:C0154026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57579"}
is_a: MONDO:0021238 {source="MONDO:Redundant", source="NCIT:C3623"} ! cornea neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3623"} ! benign neoplasm of eye
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0021453
name: benign neoplasm of retina
def: "A benign neoplasm that involves the retina." [MONDO:patterns/location]
synonym: "benign neoplasm of the retina" EXACT [NCIT:C3624]
synonym: "benign retina neoplasm" EXACT [NCIT:C3624]
synonym: "benign retina tumor" EXACT [NCIT:C3624]
synonym: "benign retina tumour" EXACT OMO:0003005 []
synonym: "benign retinal neoplasm" EXACT [NCIT:C3624]
synonym: "benign retinal tumor" EXACT [NCIT:C3624]
synonym: "benign retinal tumour" EXACT OMO:0003005 []
synonym: "benign tumor of retina" EXACT [NCIT:C3624]
synonym: "benign tumor of the retina" EXACT [NCIT:C3624]
synonym: "benign tumour of retina" EXACT OMO:0003005 []
synonym: "benign tumour of the retina" EXACT OMO:0003005 []
synonym: "retina benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3624 {source="MONDO:equivalentTo"}
xref: SCTID:92321003 {source="MONDO:equivalentTo"}
xref: UMLS:C0154027 {source="MEDGEN:57580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021231 {source="MONDO:Redundant", source="NCIT:C3624"} ! retina neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3624"} ! benign neoplasm of eye
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0021454
name: benign neoplasm of eye
def: "A benign neoplasm that involves the eye." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign eye neoplasm" EXACT [NCIT:C4780]
synonym: "benign eye tumor" EXACT [NCIT:C4780]
synonym: "benign eye tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the eye" EXACT [NCIT:C4780]
synonym: "benign ocular neoplasm" EXACT [NCIT:C4780]
synonym: "benign ocular tumor" EXACT [NCIT:C4780]
synonym: "benign ocular tumour" EXACT OMO:0003005 []
synonym: "benign tumor of eye" EXACT [NCIT:C4780]
synonym: "benign tumor of the eye" EXACT [NCIT:C4780]
synonym: "benign tumour of eye" EXACT OMO:0003005 []
synonym: "benign tumour of the eye" EXACT OMO:0003005 []
synonym: "eye benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:224.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:224.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:401267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4780 {source="MONDO:equivalentTo"}
xref: SCTID:92097004 {source="MONDO:equivalentTo"}
xref: UMLS:C1867616 {source="MEDGEN:401267", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4780"} ! eye neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0021455
name: benign neoplasm of neck
def: "A benign neoplasm that involves the neck." [MONDO:patterns/location]
synonym: "benign neck neoplasm" EXACT [NCIT:C4884]
synonym: "benign neck tumor" EXACT [NCIT:C4884]
synonym: "benign neck tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the neck" EXACT [NCIT:C4884]
synonym: "benign tumor of neck" EXACT [NCIT:C4884]
synonym: "benign tumor of the neck" EXACT [NCIT:C4884]
synonym: "benign tumour of neck" EXACT OMO:0003005 []
synonym: "benign tumour of the neck" EXACT OMO:0003005 []
synonym: "neck benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:229.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:195775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4884 {source="MONDO:equivalentTo"}
xref: SCTID:92246000 {source="MONDO:equivalentTo"}
xref: UMLS:C0684815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195775"}
is_a: MONDO:0021351 {source="MONDO:Redundant", source="NCIT:C4884"} ! neoplasm of neck
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000974 ! neck

[Term]
id: MONDO:0021456
name: benign neoplasm of sternum
def: "A benign neoplasm that involves the sternum." [MONDO:patterns/location]
synonym: "benign neoplasm of the sternum" EXACT [NCIT:C8416]
synonym: "benign sternal neoplasm" EXACT [NCIT:C8416]
synonym: "benign sternal tumor" EXACT [NCIT:C8416]
synonym: "benign sternal tumour" EXACT OMO:0003005 []
synonym: "benign tumor of sternum" EXACT [NCIT:C8416]
synonym: "benign tumor of the sternum" EXACT [NCIT:C8416]
synonym: "benign tumour of sternum" EXACT OMO:0003005 []
synonym: "benign tumour of the sternum" EXACT OMO:0003005 []
synonym: "sternum benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:87573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8416 {source="MONDO:equivalentTo"}
xref: SCTID:92410006 {source="MONDO:equivalentTo"}
xref: UMLS:C0347312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87573"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C8416"} ! thoracic benign neoplasm
is_a: MONDO:0021578 {source="MONDO:Redundant", source="NCIT:C8416"} ! sternal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000975 ! sternum

[Term]
id: MONDO:0021457
name: benign neoplasm of pleura
def: "A benign neoplasm that involves the pleura." [MONDO:patterns/location]
synonym: "benign neoplasm of the pleura" EXACT [NCIT:C3603]
synonym: "benign pleural neoplasm" EXACT [NCIT:C3603]
synonym: "benign pleural tumor" EXACT [NCIT:C3603]
synonym: "benign pleural tumour" EXACT OMO:0003005 []
synonym: "benign tumor of pleura" EXACT [NCIT:C3603]
synonym: "benign tumor of the pleura" EXACT [NCIT:C3603]
synonym: "benign tumour of pleura" EXACT OMO:0003005 []
synonym: "benign tumour of the pleura" EXACT OMO:0003005 []
synonym: "pleura benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3603 {source="MONDO:equivalentTo"}
xref: SCTID:92298003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153955 {source="MEDGEN:57806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0002037 {source="MONDO:Redundant", source="NCIT:C3603/inferred"} ! pleural disorder
is_a: MONDO:0021065 {source="MONDO:Redundant", source="NCIT:C3603"} ! pleural neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0021458
name: benign neoplasm of penis
def: "A benign neoplasm that involves the penis." [MONDO:patterns/location]
synonym: "benign neoplasm of the penis" EXACT [NCIT:C3489]
synonym: "benign penile neoplasm" EXACT [NCIT:C3489]
synonym: "benign penile tumor" EXACT [NCIT:C3489]
synonym: "benign penile tumour" EXACT OMO:0003005 []
synonym: "benign tumor of penis" EXACT [NCIT:C3489]
synonym: "benign tumor of the penis" EXACT [NCIT:C3489]
synonym: "benign tumour of penis" EXACT OMO:0003005 []
synonym: "benign tumour of the penis" EXACT OMO:0003005 []
synonym: "penis benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D29.0 {source="MONDO:equivalentTo"}
xref: ICD9:222.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3489 {source="MONDO:equivalentTo"}
xref: SCTID:92286008 {source="MONDO:equivalentTo"}
xref: UMLS:C0149627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57435"}
is_a: MONDO:0002036 {source="MONDO:Redundant", source="NCIT:C3489/inferred"} ! penile disorder
is_a: MONDO:0006895 {source="MONDO:Redundant", source="NCIT:C3489"} ! penile neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000989 ! penis

[Term]
id: MONDO:0021459
name: benign neoplasm of esophagus
def: "A benign neoplasm that involves the esophagus." [MONDO:patterns/location]
synonym: "benign esophageal neoplasm" EXACT [NCIT:C3598]
synonym: "benign esophageal tumor" EXACT [NCIT:C3598]
synonym: "benign esophageal tumour" EXACT OMO:0003005 []
synonym: "benign esophagus neoplasm" EXACT [NCIT:C3598]
synonym: "benign esophagus tumor" EXACT [NCIT:C3598]
synonym: "benign neoplasm of the esophagus" EXACT [NCIT:C3598]
synonym: "benign neoplasm of the oesophagus" EXACT OMO:0003005 []
synonym: "benign oesophagus neoplasm" EXACT OMO:0003005 []
synonym: "benign oesophagus tumour" EXACT OMO:0003005 []
synonym: "benign tumor of esophagus" EXACT [NCIT:C3598]
synonym: "benign tumor of the esophagus" EXACT [NCIT:C3598]
synonym: "benign tumour of oesophagus" EXACT OMO:0003005 []
synonym: "benign tumour of the oesophagus" EXACT OMO:0003005 []
synonym: "esophagus benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "oesophagus benign neoplasm" EXACT OMO:0003005 []
xref: ICD10CM:D13.0 {source="MONDO:equivalentTo"}
xref: ICD9:211.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3598 {source="MONDO:equivalentTo"}
xref: SCTID:92091003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153942 {source="MEDGEN:102297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C3598"} ! benign digestive system neoplasm
is_a: MONDO:0021355 {source="MONDO:Redundant", source="NCIT:C3598"} ! neoplasm of esophagus
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0021460
name: benign neoplasm of salivary gland
def: "A benign neoplasm that involves the saliva-secreting gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the salivary gland" EXACT [NCIT:C4600]
synonym: "benign salivary gland neoplasm" EXACT [NCIT:C4600]
synonym: "benign salivary gland tumor" EXACT [NCIT:C4600]
synonym: "benign salivary gland tumour" EXACT OMO:0003005 []
synonym: "benign tumor of salivary gland" EXACT [NCIT:C4600]
synonym: "benign tumor of the salivary gland" EXACT [NCIT:C4600]
synonym: "benign tumour of salivary gland" EXACT OMO:0003005 []
synonym: "benign tumour of the salivary gland" EXACT OMO:0003005 []
synonym: "saliva-secreting gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "salivary gland neoplasm, benign" EXACT [NCIT:C4600]
xref: MEDGEN:83857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4600 {source="MONDO:equivalentTo"}
xref: SCTID:255154009 {source="MONDO:equivalentTo"}
xref: UMLS:C0347206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83857"}
is_a: MONDO:0021357 {source="MONDO:Redundant", source="NCIT:C4600"} ! tumor of salivary gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0021461
name: benign neoplasm of hypopharynx
def: "A benign neoplasm that involves the hypopharynx." [MONDO:patterns/location]
synonym: "benign hypopharyngeal neoplasm" EXACT [NCIT:C3596]
synonym: "benign hypopharyngeal tumor" EXACT [NCIT:C3596]
synonym: "benign hypopharyngeal tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the hypopharynx" EXACT [NCIT:C3596]
synonym: "benign tumor of hypopharynx" EXACT [NCIT:C3596]
synonym: "benign tumor of the hypopharynx" EXACT [NCIT:C3596]
synonym: "benign tumour of hypopharynx" EXACT OMO:0003005 []
synonym: "benign tumour of the hypopharynx" EXACT OMO:0003005 []
synonym: "hypopharyngeal neoplasm, benign" EXACT [NCIT:C3596]
synonym: "hypopharynx benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D10.7 {source="MONDO:equivalentTo"}
xref: ICD9:210.8 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3596 {source="MONDO:equivalentTo"}
xref: SCTID:92139000 {source="MONDO:equivalentTo"}
xref: UMLS:C0153939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57575"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0021358 {source="MONDO:Redundant", source="NCIT:C3596"} ! neoplasm of hypopharynx
is_a: MONDO:0021523 {source="MONDO:Redundant", source="NCIT:C3596"} ! benign neoplasm of pharynx
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001051 ! hypopharynx

[Term]
id: MONDO:0021462
name: benign neoplasm of rectum
def: "A benign neoplasm that involves the rectum." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the rectum" EXACT [NCIT:C4774]
synonym: "benign rectal neoplasm" EXACT [NCIT:C4774]
synonym: "benign rectal neoplasms" EXACT [NCIT:C4774]
synonym: "benign rectal tumor" EXACT [NCIT:C4774]
synonym: "benign rectal tumors" EXACT [NCIT:C4774]
synonym: "benign rectal tumour" EXACT OMO:0003005 []
synonym: "benign rectal tumours" EXACT OMO:0003005 []
synonym: "benign tumor of rectum" EXACT [NCIT:C4774]
synonym: "benign tumor of the rectum" EXACT [NCIT:C4774]
synonym: "benign tumour of rectum" EXACT OMO:0003005 []
synonym: "benign tumour of the rectum" EXACT OMO:0003005 []
synonym: "rectal neoplasms, benign" EXACT [NCIT:C4774]
synonym: "rectal tumors, benign" EXACT [NCIT:C4774]
synonym: "rectum benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D12.8 {source="MONDO:equivalentTo"}
xref: MEDGEN:99222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4774 {source="MONDO:equivalentTo"}
xref: SCTID:92318000 {source="MONDO:equivalentTo"}
xref: UMLS:C0496867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99222"}
is_a: MONDO:0002165 {source="MONDO:Redundant", source="NCIT:C4774"} ! rectal neoplasm
is_a: MONDO:0021444 {source="MONDO:Redundant", source="NCIT:C4774"} ! benign neoplasm of large intestine
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0021463
name: benign neoplasm of parathyroid gland
def: "A benign neoplasm that involves the parathyroid gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of parathyroid" EXACT [NCIT:C3630]
synonym: "benign neoplasm of the parathyroid" EXACT [NCIT:C3630]
synonym: "benign neoplasm of the parathyroid gland" EXACT [NCIT:C3630]
synonym: "benign parathyroid gland neoplasm" EXACT [NCIT:C3630]
synonym: "benign parathyroid gland tumor" EXACT [NCIT:C3630]
synonym: "benign parathyroid gland tumour" EXACT OMO:0003005 []
synonym: "benign parathyroid neoplasm" EXACT [NCIT:C3630]
synonym: "benign parathyroid tumor" EXACT [NCIT:C3630]
synonym: "benign parathyroid tumour" EXACT OMO:0003005 []
synonym: "benign tumor of parathyroid" EXACT [NCIT:C3630]
synonym: "benign tumor of parathyroid gland" EXACT [NCIT:C3630]
synonym: "benign tumor of the parathyroid" EXACT [NCIT:C3630]
synonym: "benign tumor of the parathyroid gland" EXACT [NCIT:C3630]
synonym: "benign tumour of parathyroid" EXACT OMO:0003005 []
synonym: "benign tumour of parathyroid gland" EXACT OMO:0003005 []
synonym: "benign tumour of the parathyroid" EXACT OMO:0003005 []
synonym: "benign tumour of the parathyroid gland" EXACT OMO:0003005 []
synonym: "parathyroid gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "parathyroid tumor benign" EXACT [NCIT:C3630]
synonym: "parathyroid tumour benign" EXACT OMO:0003005 []
xref: DOID:60008 {source="MONDO:equivalentTo"}
xref: ICD10CM:D35.1 {source="MONDO:equivalentTo"}
xref: ICD9:227.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3630 {source="MONDO:equivalentTo"}
xref: SCTID:92272009 {source="MONDO:equivalentTo"}
xref: UMLS:C0154041 {source="MEDGEN:57814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm
is_a: MONDO:0021360 {source="MONDO:Redundant", source="NCIT:C3630"} ! tumor of parathyroid gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland

[Term]
id: MONDO:0021464
name: benign neoplasm of cecum
def: "A benign neoplasm that involves the caecum." [MONDO:patterns/location]
synonym: "benign cecum neoplasm" EXACT [NCIT:C4772]
synonym: "benign cecum tumor" EXACT [NCIT:C4772]
synonym: "benign cecum tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the cecum" EXACT [NCIT:C4772]
synonym: "benign tumor of cecum" EXACT [NCIT:C4772]
synonym: "benign tumor of the cecum" EXACT [NCIT:C4772]
synonym: "benign tumour of cecum" EXACT OMO:0003005 []
synonym: "benign tumour of the cecum" EXACT OMO:0003005 []
synonym: "caecum benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D12.0 {source="MONDO:equivalentTo"}
xref: MEDGEN:105420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4772 {source="MONDO:equivalentTo"}
xref: SCTID:92040001 {source="MONDO:equivalentTo"}
xref: UMLS:C0496859 {source="MEDGEN:105420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002278 {source="MONDO:Redundant", source="NCIT:C4772"} ! benign colon neoplasm
is_a: MONDO:0005694 {source="MONDO:Redundant", source="NCIT:C4772"} ! cecal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001153 ! caecum

[Term]
id: MONDO:0021465
name: benign neoplasm of appendix
def: "A benign neoplasm that involves the vermiform appendix." [MONDO:patterns/location]
synonym: "benign appendix neoplasm" EXACT [NCIT:C4773]
synonym: "benign appendix tumor" EXACT [NCIT:C4773]
synonym: "benign appendix tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the appendix" EXACT [NCIT:C4773]
synonym: "benign tumor of appendix" EXACT [NCIT:C4773]
synonym: "benign tumor of the appendix" EXACT [NCIT:C4773]
synonym: "benign tumour of appendix" EXACT OMO:0003005 []
synonym: "benign tumour of the appendix" EXACT OMO:0003005 []
synonym: "vermiform appendix benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D12.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:99221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4773 {source="MONDO:equivalentTo"}
xref: SCTID:91981009 {source="MONDO:equivalentTo"}
xref: UMLS:C0496860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99221"}
is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C4773"} ! appendiceal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0021467
name: benign neoplasm of renal pelvis
def: "A benign neoplasm that involves the renal pelvis." [MONDO:patterns/location]
synonym: "benign kidney pelvis neoplasm" EXACT [NCIT:C3616]
synonym: "benign neoplasm of the renal pelvis" EXACT [NCIT:C3616]
synonym: "benign renal pelvis neoplasm" EXACT [NCIT:C3616]
synonym: "benign renal pelvis tumor" EXACT [NCIT:C3616]
synonym: "benign renal pelvis tumour" EXACT OMO:0003005 []
synonym: "benign tumor of renal pelvis" EXACT [NCIT:C3616]
synonym: "benign tumor of the renal pelvis" EXACT [NCIT:C3616]
synonym: "benign tumour of renal pelvis" EXACT OMO:0003005 []
synonym: "benign tumour of the renal pelvis" EXACT OMO:0003005 []
synonym: "renal pelvis benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:223.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3616 {source="MONDO:equivalentTo"}
xref: SCTID:92319008 {source="MONDO:equivalentTo"}
xref: UMLS:C0154015 {source="MEDGEN:56327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002513 {source="MONDO:Redundant", source="NCIT:C3616"} ! kidney benign neoplasm
is_a: MONDO:0003719 {source="MONDO:Redundant", source="NCIT:C3616"} ! renal pelvis neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0021468
name: benign neoplasm of adrenal medulla
def: "A benign neoplasm that involves the adrenal medulla." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "adrenal medulla benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "benign adrenal medulla neoplasm" EXACT [NCIT:C4895]
synonym: "benign adrenal medulla tumor" EXACT [NCIT:C4895]
synonym: "benign adrenal medulla tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the adrenal medulla" EXACT [NCIT:C4895]
synonym: "benign tumor of adrenal medulla" EXACT [NCIT:C4895]
synonym: "benign tumor of the adrenal medulla" EXACT [NCIT:C4895]
synonym: "benign tumour of adrenal medulla" EXACT OMO:0003005 []
synonym: "benign tumour of the adrenal medulla" EXACT OMO:0003005 []
xref: MEDGEN:151941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4895 {source="MONDO:equivalentTo"}
xref: SCTID:91968002 {source="MONDO:equivalentTo"}
xref: UMLS:C0686512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:151941"}
is_a: MONDO:0021237 {source="MONDO:Redundant", source="NCIT:C4895"} ! adrenal medulla neoplasm
is_a: MONDO:0021511 {source="MONDO:Redundant", source="NCIT:C4895"} ! benign neoplasm of adrenal gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001236 ! adrenal medulla

[Term]
id: MONDO:0021469
name: benign neoplasm of anus
def: "A benign neoplasm that involves the anus." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "anus benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "benign anal neoplasm" EXACT [NCIT:C4611]
synonym: "benign anal tumor" EXACT [NCIT:C4611]
synonym: "benign anal tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the anus" EXACT [NCIT:C4611]
synonym: "benign tumor of anus" EXACT [NCIT:C4611]
synonym: "benign tumor of the anus" EXACT [NCIT:C4611]
synonym: "benign tumour of anus" EXACT OMO:0003005 []
synonym: "benign tumour of the anus" EXACT OMO:0003005 []
xref: MEDGEN:83864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4611 {source="MONDO:equivalentTo"}
xref: SCTID:91978004 {source="MONDO:equivalentTo"}
xref: UMLS:C0347276 {source="MEDGEN:83864", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003046 {source="MONDO:Redundant", source="NCIT:C4611"} ! anus neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0021470
name: benign neoplasm of pancreas
def: "A benign neoplasm that involves the pancreas." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the pancreas" EXACT [NCIT:C4612]
synonym: "benign pancreas neoplasm" EXACT [NCIT:C4612]
synonym: "benign pancreas tumor" EXACT [NCIT:C4612]
synonym: "benign pancreas tumour" EXACT OMO:0003005 []
synonym: "benign pancreatic neoplasm" EXACT [NCIT:C4612]
synonym: "benign pancreatic neoplasm NOS" RELATED EXCLUDE [NCIT:C4612]
synonym: "benign pancreatic tumor" EXACT [NCIT:C4612]
synonym: "benign pancreatic tumour" EXACT OMO:0003005 []
synonym: "benign tumor of pancreas" EXACT [NCIT:C4612]
synonym: "benign tumor of the pancreas" EXACT [NCIT:C4612]
synonym: "benign tumour of pancreas" EXACT OMO:0003005 []
synonym: "benign tumour of the pancreas" EXACT OMO:0003005 []
synonym: "pancreas benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "pancreas neoplasm, benign" EXACT [NCIT:C4612]
synonym: "pancreas tumor, benign" EXACT [NCIT:C4612]
synonym: "pancreatic neoplasm, benign" EXACT [NCIT:C4612]
synonym: "pancreatic tumor, benign" EXACT [NCIT:C4612]
xref: ICD10CM:D13.6 {source="MONDO:equivalentTo"}
xref: MEDGEN:91126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4612 {source="MONDO:equivalentTo"}
xref: SCTID:92264007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347284 {source="MONDO:equivalentTo", source="MEDGEN:91126", source="MONDO:MEDGEN"}
is_a: MONDO:0021040 {source="MONDO:Redundant", source="NCIT:C4612"} ! pancreatic neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001264 ! pancreas

[Term]
id: MONDO:0021471
name: benign neoplasm of endometrium
def: "A benign neoplasm that involves the endometrium." [MONDO:patterns/location]
synonym: "benign endometrial neoplasm" EXACT [NCIT:C4894]
synonym: "benign endometrial tumor" EXACT [NCIT:C4894]
synonym: "benign endometrial tumour" EXACT OMO:0003005 []
synonym: "benign endometrium neoplasm" EXACT [NCIT:C4894]
synonym: "benign endometrium tumor" EXACT [NCIT:C4894]
synonym: "benign endometrium tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the endometrium" EXACT [NCIT:C4894]
synonym: "benign tumor of endometrium" EXACT [NCIT:C4894]
synonym: "benign tumor of the endometrium" EXACT [NCIT:C4894]
synonym: "benign tumour of endometrium" EXACT OMO:0003005 []
synonym: "benign tumour of the endometrium" EXACT OMO:0003005 []
synonym: "endometrium benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:146349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4894 {source="MONDO:equivalentTo"}
xref: SCTID:92086004 {source="MONDO:equivalentTo"}
xref: UMLS:C0686239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146349"}
is_a: MONDO:0000383 {source="MONDO:Redundant", source="NCIT:C4894/inferred"} ! benign reproductive system neoplasm
is_a: MONDO:0000632 {source="MONDO:Redundant", source="NCIT:C4894/inferred"} ! uterine benign neoplasm
is_a: MONDO:0021251 {source="MONDO:Redundant", source="NCIT:C4894"} ! endometrium neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001295 ! endometrium

[Term]
id: MONDO:0021472
name: benign neoplasm of scrotum
def: "A benign neoplasm that involves the scrotum." [MONDO:patterns/location]
synonym: "benign neoplasm of the scrotum" EXACT [NCIT:C3615]
synonym: "benign scrotal neoplasm" EXACT [NCIT:C3615]
synonym: "benign scrotal tumor" EXACT [NCIT:C3615]
synonym: "benign scrotal tumour" EXACT OMO:0003005 []
synonym: "benign tumor of scrotum" EXACT [NCIT:C3615]
synonym: "benign tumor of the scrotum" EXACT [NCIT:C3615]
synonym: "benign tumour of scrotum" EXACT OMO:0003005 []
synonym: "benign tumour of the scrotum" EXACT OMO:0003005 []
synonym: "scrotum benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D29.4 {source="MONDO:equivalentTo"}
xref: ICD9:222.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3615 {source="MONDO:equivalentTo"}
xref: SCTID:92336000 {source="MONDO:equivalentTo"}
xref: UMLS:C0154011 {source="MEDGEN:102302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003319 {source="MONDO:Redundant", source="NCIT:C3615"} ! scrotum neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0021473
name: benign neoplasm of epididymis
def: "A benign neoplasm that involves the epididymis." [MONDO:patterns/location]
synonym: "benign epididymal neoplasm" EXACT [NCIT:C3614]
synonym: "benign epididymal tumor" EXACT [NCIT:C3614]
synonym: "benign epididymal tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the epididymis" EXACT [NCIT:C3614]
synonym: "benign tumor of epididymis" EXACT [NCIT:C3614]
synonym: "benign tumor of the epididymis" EXACT [NCIT:C3614]
synonym: "benign tumour of epididymis" EXACT OMO:0003005 []
synonym: "benign tumour of the epididymis" EXACT OMO:0003005 []
synonym: "epididymis benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:222.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3614 {source="MONDO:equivalentTo"}
xref: SCTID:92088003 {source="MONDO:equivalentTo"}
xref: UMLS:C0154010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57578"}
is_a: MONDO:0003283 {source="MONDO:Redundant", source="NCIT:C3614"} ! epididymal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001301 ! epididymis

[Term]
id: MONDO:0021474
name: benign neoplasm of ear
def: "A benign neoplasm that involves the ear." [MONDO:patterns/location]
synonym: "aural neoplasms, benign" EXACT [NCIT:C8417]
synonym: "benign Ear neoplasm" EXACT [NCIT:C8417]
synonym: "benign Ear tumor" EXACT [NCIT:C8417]
synonym: "benign Ear tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the Ear" EXACT [NCIT:C8417]
synonym: "benign tumor of Ear" EXACT [NCIT:C8417]
synonym: "benign tumor of the Ear" EXACT [NCIT:C8417]
synonym: "benign tumour of Ear" EXACT OMO:0003005 []
synonym: "benign tumour of the Ear" EXACT OMO:0003005 []
synonym: "ear benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:138081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8417 {source="MONDO:equivalentTo"}
xref: SCTID:255181009 {source="MONDO:equivalentTo"}
xref: UMLS:C0347354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138081"}
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C8417"} ! ear neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001690 ! ear

[Term]
id: MONDO:0021475
name: benign neoplasm of nasal cavity
def: "A benign neoplasm that involves the nasal cavity." [MONDO:patterns/location]
synonym: "benign nasal cavity neoplasm" EXACT [NCIT:C4603]
synonym: "benign nasal cavity tumor" EXACT [NCIT:C4603]
synonym: "benign nasal cavity tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the nasal cavity" EXACT [NCIT:C4603]
synonym: "benign tumor of nasal cavity" EXACT [NCIT:C4603]
synonym: "benign tumor of the nasal cavity" EXACT [NCIT:C4603]
synonym: "benign tumour of nasal cavity" EXACT OMO:0003005 []
synonym: "benign tumour of the nasal cavity" EXACT OMO:0003005 []
synonym: "nasal cavity benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4603 {source="MONDO:equivalentTo"}
xref: SCTID:92241005 {source="MONDO:equivalentTo"}
xref: UMLS:C0347215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83859"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0004756 {source="MONDO:Redundant", source="NCIT:C4603"} ! nasal cavity neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001707 ! nasal cavity

[Term]
id: MONDO:0021476
name: benign neoplasm of tongue
def: "A benign neoplasm that involves the tongue." [MONDO:patterns/location]
synonym: "benign neoplasm of the tongue" EXACT [NCIT:C3592]
synonym: "benign tongue neoplasm" EXACT [NCIT:C3592]
synonym: "benign tongue tumor" EXACT [NCIT:C3592]
synonym: "benign tongue tumour" EXACT OMO:0003005 []
synonym: "benign tumor of the tongue" EXACT [NCIT:C3592]
synonym: "benign tumor of tongue" EXACT [NCIT:C3592]
synonym: "benign tumour of the tongue" EXACT OMO:0003005 []
synonym: "benign tumour of tongue" EXACT OMO:0003005 []
synonym: "tongue benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tongue neoplasm, benign" EXACT [NCIT:C3592]
xref: ICD10CM:D10.1 {source="MONDO:equivalentTo"}
xref: ICD9:210.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3592 {source="MONDO:equivalentTo"}
xref: SCTID:92443005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57573"}
is_a: MONDO:0021240 {source="MONDO:Redundant", source="NCIT:C3592"} ! tongue neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001723 ! tongue

[Term]
id: MONDO:0021477
name: benign neoplasm of sphenoidal sinus
def: "A non-metastasizing neoplasm that arises from the sphenoid sinus." [NCIT:C4422]
subset: inferred_rare
subset: rare
synonym: "benign neoplasm of sphenoid sinus" EXACT [NCIT:C4422]
synonym: "benign neoplasm of the sphenoid sinus" EXACT [NCIT:C4422]
synonym: "benign neoplasm of the sphenoidal sinus" EXACT [NCIT:C4422]
synonym: "benign sphenoid sinus neoplasm" EXACT [NCIT:C4422]
synonym: "benign sphenoid sinus tumor" EXACT [NCIT:C4422]
synonym: "benign sphenoid sinus tumour" EXACT OMO:0003005 []
synonym: "benign sphenoidal sinus neoplasm" EXACT [NCIT:C4422]
synonym: "benign sphenoidal sinus tumor" EXACT [NCIT:C4422]
synonym: "benign sphenoidal sinus tumour" EXACT OMO:0003005 []
synonym: "benign tumor of sphenoid sinus" EXACT [NCIT:C4422]
synonym: "benign tumor of sphenoidal sinus" EXACT [NCIT:C4422]
synonym: "benign tumor of the sphenoid sinus" EXACT [NCIT:C4422]
synonym: "benign tumor of the sphenoidal sinus" EXACT [NCIT:C4422]
synonym: "benign tumour of sphenoid sinus" EXACT OMO:0003005 []
synonym: "benign tumour of sphenoidal sinus" EXACT OMO:0003005 []
synonym: "benign tumour of the sphenoid sinus" EXACT OMO:0003005 []
synonym: "benign tumour of the sphenoidal sinus" EXACT OMO:0003005 []
synonym: "sphenoidal sinus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4422 {source="MONDO:equivalentTo"}
xref: SCTID:92404006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345678 {source="MEDGEN:83387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0004047 {source="MONDO:Redundant", source="NCIT:C4422"} ! sphenoidal sinus neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus

[Term]
id: MONDO:0021478
name: benign neoplasm of nasopharynx
def: "A benign neoplasm that involves the nasopharynx." [MONDO:patterns/location]
synonym: "benign nasopharyngeal neoplasm" EXACT [NCIT:C3595]
synonym: "benign nasopharyngeal tumor" EXACT [NCIT:C3595]
synonym: "benign nasopharyngeal tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the nasopharynx" EXACT [NCIT:C3595]
synonym: "benign tumor of nasopharynx" EXACT [NCIT:C3595]
synonym: "benign tumor of the nasopharynx" EXACT [NCIT:C3595]
synonym: "benign tumour of nasopharynx" EXACT OMO:0003005 []
synonym: "benign tumour of the nasopharynx" EXACT OMO:0003005 []
synonym: "nasopharyngeal neoplasm, benign" EXACT [NCIT:C3595]
synonym: "nasopharynx benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D10.6 {source="MONDO:equivalentTo"}
xref: ICD9:210.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3595 {source="MONDO:equivalentTo"}
xref: SCTID:188800003 {source="MONDO:equivalentTo"}
xref: UMLS:C0153938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57574"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0005375 {source="MONDO:Redundant", source="NCIT:C3595"} ! nasopharyngeal neoplasm
is_a: MONDO:0021523 {source="MONDO:Redundant", source="NCIT:C3595"} ! benign neoplasm of pharynx
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0021479
name: benign neoplasm of oropharynx
def: "A benign neoplasm that involves the oropharynx." [MONDO:patterns/location]
synonym: "benign neoplasm of the oropharynx" EXACT [NCIT:C4604]
synonym: "benign oropharyngeal neoplasm" EXACT [NCIT:C4604]
synonym: "benign oropharyngeal tumor" EXACT [NCIT:C4604]
synonym: "benign oropharyngeal tumour" EXACT OMO:0003005 []
synonym: "benign tumor of oropharynx" EXACT [NCIT:C4604]
synonym: "benign tumor of the oropharynx" EXACT [NCIT:C4604]
synonym: "benign tumour of oropharynx" EXACT OMO:0003005 []
synonym: "benign tumour of the oropharynx" EXACT OMO:0003005 []
synonym: "oropharyngeal neoplasm benign" EXACT [NCIT:C4604]
synonym: "oropharynx benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4604 {source="MONDO:equivalentTo"}
xref: SCTID:92259008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87572"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0021364 {source="MONDO:Redundant", source="NCIT:C4604"} ! neoplasm of oropharynx
is_a: MONDO:0021523 {source="MONDO:Redundant", source="NCIT:C4604"} ! benign neoplasm of pharynx
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001729 ! oropharynx

[Term]
id: MONDO:0021480
name: benign neoplasm of soft palate
def: "A benign neoplasm that involves the soft palate." [MONDO:patterns/location]
synonym: "benign neoplasm of the soft palate" EXACT [NCIT:C4404]
synonym: "benign soft palate neoplasm" EXACT [NCIT:C4404]
synonym: "benign soft palate tumor" EXACT [NCIT:C4404]
synonym: "benign soft palate tumour" EXACT OMO:0003005 []
synonym: "benign tumor of soft palate" EXACT [NCIT:C4404]
synonym: "benign tumor of the soft palate" EXACT [NCIT:C4404]
synonym: "benign tumour of soft palate" EXACT OMO:0003005 []
synonym: "benign tumour of the soft palate" EXACT OMO:0003005 []
synonym: "soft palate benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4404 {source="MONDO:equivalentTo"}
xref: SCTID:92386006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345557 {source="MEDGEN:87506", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4404/inferred"} ! head and neck neoplasm
is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C4404/inferred"} ! mouth disorder
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001733 ! soft palate

[Term]
id: MONDO:0021481
name: benign neoplasm of submandibular gland
def: "A benign neoplasm that involves the submandibular gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the submandibular gland" EXACT [NCIT:C4891]
synonym: "benign submandibular gland neoplasm" EXACT [NCIT:C4891]
synonym: "benign submandibular gland tumor" EXACT [NCIT:C4891]
synonym: "benign submandibular gland tumour" EXACT OMO:0003005 []
synonym: "benign tumor of submandibular gland" EXACT [NCIT:C4891]
synonym: "benign tumor of the submandibular gland" EXACT [NCIT:C4891]
synonym: "benign tumour of submandibular gland" EXACT OMO:0003005 []
synonym: "benign tumour of the submandibular gland" EXACT OMO:0003005 []
synonym: "submandibular gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:151936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4891 {source="MONDO:equivalentTo"}
xref: SCTID:92415001 {source="MONDO:equivalentTo"}
xref: UMLS:C0685988 {source="MEDGEN:151936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021244 {source="MONDO:Redundant", source="NCIT:C4891"} ! submandibular gland neoplasm
is_a: MONDO:0021492 {source="MONDO:Redundant", source="NCIT:C4891"} ! benign neoplasm of major salivary gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001736 ! submandibular gland

[Term]
id: MONDO:0021482
name: benign neoplasm of middle ear
def: "A benign neoplasm that involves the middle ear." [MONDO:patterns/location]
synonym: "benign middle Ear neoplasm" EXACT [NCIT:C4602]
synonym: "benign middle Ear tumor" EXACT [NCIT:C4602]
synonym: "benign middle Ear tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the middle Ear" EXACT [NCIT:C4602]
synonym: "benign tumor of middle Ear" EXACT [NCIT:C4602]
synonym: "benign tumor of the middle Ear" EXACT [NCIT:C4602]
synonym: "benign tumour of middle Ear" EXACT OMO:0003005 []
synonym: "benign tumour of the middle Ear" EXACT OMO:0003005 []
synonym: "middle ear benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4602 {source="MONDO:equivalentTo"}
xref: SCTID:92218002 {source="MONDO:equivalentTo"}
xref: UMLS:C0347213 {source="MEDGEN:91121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021366 {source="MONDO:Redundant", source="NCIT:C4602"} ! neoplasm of middle ear
is_a: MONDO:0021474 {source="MONDO:Redundant", source="NCIT:C4602"} ! benign neoplasm of ear
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001756 ! middle ear

[Term]
id: MONDO:0021483
name: benign neoplasm of frontal sinus
def: "A benign neoplasm that involves the frontal sinus." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "benign frontal sinus neoplasm" EXACT [NCIT:C4420]
synonym: "benign frontal sinus tumor" EXACT [NCIT:C4420]
synonym: "benign frontal sinus tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the frontal sinus" EXACT [NCIT:C4420]
synonym: "benign tumor of frontal sinus" EXACT [NCIT:C4420]
synonym: "benign tumor of the frontal sinus" EXACT [NCIT:C4420]
synonym: "benign tumour of frontal sinus" EXACT OMO:0003005 []
synonym: "benign tumour of the frontal sinus" EXACT OMO:0003005 []
synonym: "frontal sinus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4420 {source="MONDO:equivalentTo"}
xref: SCTID:92115005 {source="MONDO:equivalentTo"}
xref: UMLS:C0345674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87510"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0001757 {source="MONDO:Redundant", source="NCIT:C4420"} ! frontal sinus neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001760 ! frontal sinus

[Term]
id: MONDO:0021484
name: benign neoplasm of maxillary sinus
def: "A benign neoplasm that involves the maxillary sinus." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "benign maxillary antrum neoplasm" EXACT [NCIT:C4414]
synonym: "benign maxillary antrum tumor" EXACT [NCIT:C4414]
synonym: "benign maxillary antrum tumour" EXACT OMO:0003005 []
synonym: "benign maxillary sinus neoplasm" EXACT [NCIT:C4414]
synonym: "benign maxillary sinus tumor" EXACT [NCIT:C4414]
synonym: "benign maxillary sinus tumour" EXACT OMO:0003005 []
synonym: "benign maxillofacial sinus neoplasm" EXACT [NCIT:C4414]
synonym: "benign maxillofacial sinus tumor" EXACT [NCIT:C4414]
synonym: "benign maxillofacial sinus tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of maxillary antrum" EXACT [NCIT:C4414]
synonym: "benign neoplasm of maxillofacial sinus" EXACT [NCIT:C4414]
synonym: "benign neoplasm of the maxillary antrum" EXACT [NCIT:C4414]
synonym: "benign neoplasm of the maxillary sinus" EXACT [NCIT:C4414]
synonym: "benign neoplasm of the maxillofacial sinus" EXACT [NCIT:C4414]
synonym: "benign tumor of maxillary antrum" EXACT [NCIT:C4414]
synonym: "benign tumor of maxillary sinus" EXACT [NCIT:C4414]
synonym: "benign tumor of maxillofacial sinus" EXACT [NCIT:C4414]
synonym: "benign tumor of the maxillary antrum" EXACT [NCIT:C4414]
synonym: "benign tumor of the maxillary sinus" EXACT [NCIT:C4414]
synonym: "benign tumor of the maxillofacial sinus" EXACT [NCIT:C4414]
synonym: "benign tumour of maxillary antrum" EXACT OMO:0003005 []
synonym: "benign tumour of maxillary sinus" EXACT OMO:0003005 []
synonym: "benign tumour of maxillofacial sinus" EXACT OMO:0003005 []
synonym: "benign tumour of the maxillary antrum" EXACT OMO:0003005 []
synonym: "benign tumour of the maxillary sinus" EXACT OMO:0003005 []
synonym: "benign tumour of the maxillofacial sinus" EXACT OMO:0003005 []
synonym: "maxillary sinus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4414 {source="MONDO:equivalentTo"}
xref: SCTID:92211008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345666 {source="MEDGEN:138024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0006850 {source="MONDO:Redundant", source="NCIT:C4414"} ! maxillary sinus neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus

[Term]
id: MONDO:0021485
name: benign neoplasm of iris
def: "A benign neoplasm that involves the iris." [MONDO:patterns/location]
synonym: "benign iris neoplasm" EXACT [NCIT:C4555]
synonym: "benign iris tumor" EXACT [NCIT:C4555]
synonym: "benign iris tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the iris" EXACT [NCIT:C4555]
synonym: "benign tumor of iris" EXACT [NCIT:C4555]
synonym: "benign tumor of the iris" EXACT [NCIT:C4555]
synonym: "benign tumour of iris" EXACT OMO:0003005 []
synonym: "benign tumour of the iris" EXACT OMO:0003005 []
synonym: "iris benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4555 {source="MONDO:equivalentTo"}
xref: SCTID:189151003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87560"}
is_a: MONDO:0021224 {source="MONDO:Redundant", source="NCIT:C4555"} ! iris neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C4555/inferred"} ! benign neoplasm of eye
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001769 ! iris

[Term]
id: MONDO:0021486
name: benign neoplasm of ciliary body
def: "A benign neoplasm that involves the ciliary body." [MONDO:patterns/location]
synonym: "benign ciliary body neoplasm" EXACT [NCIT:C4779]
synonym: "benign ciliary body tumor" EXACT [NCIT:C4779]
synonym: "benign ciliary body tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the ciliary body" EXACT [NCIT:C4779]
synonym: "benign tumor of ciliary body" EXACT [NCIT:C4779]
synonym: "benign tumor of the ciliary body" EXACT [NCIT:C4779]
synonym: "benign tumour of ciliary body" EXACT OMO:0003005 []
synonym: "benign tumour of the ciliary body" EXACT OMO:0003005 []
synonym: "ciliary body benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4779 {source="MONDO:equivalentTo"}
xref: SCTID:92060009 {source="MONDO:equivalentTo"}
xref: UMLS:C0496894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96927"}
is_a: MONDO:0021229 {source="MONDO:Redundant", source="NCIT:C4779"} ! ciliary body neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001775 ! ciliary body

[Term]
id: MONDO:0021487
name: benign neoplasm of choroid
def: "A benign neoplasm that involves the optic choroid." [MONDO:patterns/location]
synonym: "benign choroid neoplasm" EXACT [NCIT:C3625]
synonym: "benign choroid tumor" EXACT [NCIT:C3625]
synonym: "benign choroid tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the choroid" EXACT [NCIT:C3625]
synonym: "benign tumor of choroid" EXACT [NCIT:C3625]
synonym: "benign tumor of the choroid" EXACT [NCIT:C3625]
synonym: "benign tumour of choroid" EXACT OMO:0003005 []
synonym: "benign tumour of the choroid" EXACT OMO:0003005 []
synonym: "optic choroid benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3625 {source="MONDO:equivalentTo"}
xref: SCTID:92059004 {source="MONDO:equivalentTo"}
xref: UMLS:C0154028 {source="MEDGEN:57581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021258 {source="MONDO:Redundant", source="NCIT:C3625"} ! choroid neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3625/inferred"} ! benign neoplasm of eye
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0021488
name: benign neoplasm of lacrimal gland
def: "A benign neoplasm that involves the lacrimal gland." [MONDO:patterns/location]
synonym: "benign lacrimal gland neoplasm" EXACT [NCIT:C3621]
synonym: "benign lacrimal gland tumor" EXACT [NCIT:C3621]
synonym: "benign lacrimal gland tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the lacrimal gland" EXACT [NCIT:C3621]
synonym: "benign tumor of lacrimal gland" EXACT [NCIT:C3621]
synonym: "benign tumor of the lacrimal gland" EXACT [NCIT:C3621]
synonym: "benign tumour of lacrimal gland" EXACT OMO:0003005 []
synonym: "benign tumour of the lacrimal gland" EXACT OMO:0003005 []
synonym: "lacrimal gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:224.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3621 {source="MONDO:equivalentTo"}
xref: SCTID:92169007 {source="MONDO:equivalentTo"}
xref: UMLS:C0154024 {source="MEDGEN:57813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021222 {source="MONDO:Redundant", source="NCIT:C3621"} ! lacrimal gland neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C3621"} ! benign neoplasm of eye
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0021489
name: benign neoplasm of sweat gland
def: "A benign neoplasm that involves the sweat gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the sweat gland" EXACT [NCIT:C4879]
synonym: "benign sweat gland neoplasm" EXACT [NCIT:C4879]
synonym: "benign sweat gland tumor" EXACT [NCIT:C4879]
synonym: "benign sweat gland tumour" EXACT OMO:0003005 []
synonym: "benign tumor of sweat gland" EXACT [NCIT:C4879]
synonym: "benign tumor of the sweat gland" EXACT [NCIT:C4879]
synonym: "benign tumour of sweat gland" EXACT OMO:0003005 []
synonym: "benign tumour of the sweat gland" EXACT OMO:0003005 []
synonym: "sweat gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "sweat gland neoplasm, benign" EXACT [NCIT:C4879]
xref: MEDGEN:146888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4879 {source="MONDO:equivalentTo"}
xref: SCTID:92422009 {source="MONDO:equivalentTo"}
xref: UMLS:C0684354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146888"}
is_a: MONDO:0002381 {source="MONDO:Redundant", source="NCIT:C4879"} ! sweat gland neoplasm
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C4879/inferred"} ! benign neoplasm of skin
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001820 ! sweat gland

[Term]
id: MONDO:0021490
name: benign neoplasm of sebaceous gland
def: "A benign neoplasm that involves the sebaceous gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the sebaceous gland" EXACT [NCIT:C8525]
synonym: "benign sebaceous gland neoplasm" EXACT [NCIT:C8525]
synonym: "benign sebaceous gland tumor" EXACT [NCIT:C8525]
synonym: "benign sebaceous gland tumour" EXACT OMO:0003005 []
synonym: "benign sebaceous neoplasm" EXACT [NCIT:C8525]
synonym: "benign sebaceous skin neoplasm" EXACT [NCIT:C8525]
synonym: "benign sebaceous skin tumor" EXACT [NCIT:C8525]
synonym: "benign sebaceous skin tumour" EXACT OMO:0003005 []
synonym: "benign sebaceous tumor" EXACT [NCIT:C8525]
synonym: "benign sebaceous tumour" EXACT OMO:0003005 []
synonym: "benign tumor of sebaceous gland" EXACT [NCIT:C8525]
synonym: "benign tumor of the sebaceous gland" EXACT [NCIT:C8525]
synonym: "benign tumour of sebaceous gland" EXACT OMO:0003005 []
synonym: "benign tumour of the sebaceous gland" EXACT OMO:0003005 []
synonym: "sebaceous gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:195772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8525 {source="MONDO:equivalentTo"}
xref: SCTID:92337009 {source="MONDO:equivalentTo"}
xref: UMLS:C0684358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195772"}
is_a: MONDO:0006963 {source="MONDO:Redundant", source="NCIT:C8525"} ! sebaceous gland neoplasm
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C8525/inferred"} ! benign neoplasm of skin
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland

[Term]
id: MONDO:0021491
name: benign neoplasm of gum
def: "A benign neoplasm that involves the gingiva." [MONDO:patterns/location]
synonym: "benign gingival neoplasm" EXACT [NCIT:C4598]
synonym: "benign gingival tumor" EXACT [NCIT:C4598]
synonym: "benign gingival tumour" EXACT OMO:0003005 []
synonym: "benign gum neoplasm" EXACT [NCIT:C4598]
synonym: "benign gum tumor" EXACT [NCIT:C4598]
synonym: "benign gum tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of gingiva" EXACT [NCIT:C4598]
synonym: "benign neoplasm of the gingiva" EXACT [NCIT:C4598]
synonym: "benign neoplasm of the gum" EXACT [NCIT:C4598]
synonym: "benign tumor of gingiva" EXACT [NCIT:C4598]
synonym: "benign tumor of gum" EXACT [NCIT:C4598]
synonym: "benign tumor of the gingiva" EXACT [NCIT:C4598]
synonym: "benign tumor of the gum" EXACT [NCIT:C4598]
synonym: "benign tumour of gingiva" EXACT OMO:0003005 []
synonym: "benign tumour of gum" EXACT OMO:0003005 []
synonym: "benign tumour of the gingiva" EXACT OMO:0003005 []
synonym: "benign tumour of the gum" EXACT OMO:0003005 []
synonym: "gingiva benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4598 {source="MONDO:equivalentTo"}
xref: SCTID:92126004 {source="MONDO:equivalentTo"}
xref: UMLS:C0347201 {source="MEDGEN:83856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021086 {source="MONDO:Redundant", source="NCIT:C4598"} ! gingival neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001828 ! gingiva

[Term]
id: MONDO:0021492
name: benign neoplasm of major salivary gland
def: "A benign neoplasm that involves the major salivary gland." [MONDO:patterns/location]
synonym: "benign Major salivary gland neoplasm" EXACT [NCIT:C4771]
synonym: "benign Major salivary gland tumor" EXACT [NCIT:C4771]
synonym: "benign Major salivary gland tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the Major salivary gland" EXACT [NCIT:C4771]
synonym: "benign tumor of Major salivary gland" EXACT [NCIT:C4771]
synonym: "benign tumor of the Major salivary gland" EXACT [NCIT:C4771]
synonym: "benign tumour of Major salivary gland" EXACT OMO:0003005 []
synonym: "benign tumour of the Major salivary gland" EXACT OMO:0003005 []
synonym: "major salivary gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:96923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4771 {source="MONDO:equivalentTo"}
xref: SCTID:92205005 {source="MONDO:equivalentTo"}
xref: UMLS:C0496858 {source="MONDO:equivalentTo", source="MEDGEN:96923", source="MONDO:MEDGEN"}
is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C4771"} ! neoplasm of major salivary gland
is_a: MONDO:0021460 {source="MONDO:Redundant", source="NCIT:C4771"} ! benign neoplasm of salivary gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001829 ! major salivary gland

[Term]
id: MONDO:0021493
name: benign neoplasm of minor salivary gland
def: "A benign neoplasm that involves the minor salivary gland." [MONDO:patterns/location]
synonym: "benign minor salivary gland neoplasm" EXACT [NCIT:C4411]
synonym: "benign minor salivary gland tumor" EXACT [NCIT:C4411]
synonym: "benign minor salivary gland tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the minor salivary gland" EXACT [NCIT:C4411]
synonym: "benign tumor of minor salivary gland" EXACT [NCIT:C4411]
synonym: "benign tumor of the minor salivary gland" EXACT [NCIT:C4411]
synonym: "benign tumour of minor salivary gland" EXACT OMO:0003005 []
synonym: "benign tumour of the minor salivary gland" EXACT OMO:0003005 []
synonym: "minor salivary gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4411 {source="MONDO:equivalentTo"}
xref: SCTID:92220004 {source="MONDO:equivalentTo"}
xref: UMLS:C0345615 {source="MEDGEN:87508", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021370 {source="MONDO:Redundant", source="NCIT:C4411"} ! neoplasm of minor salivary gland
is_a: MONDO:0021460 {source="MONDO:Redundant", source="NCIT:C4411"} ! benign neoplasm of salivary gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland

[Term]
id: MONDO:0021494
name: benign neoplasm of parotid gland
def: "A benign neoplasm that involves the parotid gland." [MONDO:patterns/location]
synonym: "benign neoplasm of parotid" EXACT [NCIT:C4770]
synonym: "benign neoplasm of the parotid" EXACT [NCIT:C4770]
synonym: "benign neoplasm of the parotid gland" EXACT [NCIT:C4770]
synonym: "benign parotid gland neoplasm" EXACT [NCIT:C4770]
synonym: "benign parotid gland tumor" EXACT [NCIT:C4770]
synonym: "benign parotid gland tumour" EXACT OMO:0003005 []
synonym: "benign parotid neoplasm" EXACT [NCIT:C4770]
synonym: "benign parotid tumor" EXACT [NCIT:C4770]
synonym: "benign parotid tumour" EXACT OMO:0003005 []
synonym: "benign tumor of parotid" EXACT [NCIT:C4770]
synonym: "benign tumor of parotid gland" EXACT [NCIT:C4770]
synonym: "benign tumor of the parotid" EXACT [NCIT:C4770]
synonym: "benign tumor of the parotid gland" EXACT [NCIT:C4770]
synonym: "benign tumour of parotid" EXACT OMO:0003005 []
synonym: "benign tumour of parotid gland" EXACT OMO:0003005 []
synonym: "benign tumour of the parotid" EXACT OMO:0003005 []
synonym: "benign tumour of the parotid gland" EXACT OMO:0003005 []
synonym: "parotid gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D11.0 {source="MONDO:equivalentTo"}
xref: MEDGEN:99220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4770 {source="MONDO:equivalentTo"}
xref: SCTID:92279000 {source="MONDO:equivalentTo"}
xref: UMLS:C0496857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99220"}
is_a: MONDO:0021243 {source="MONDO:Redundant", source="NCIT:C4770"} ! parotid gland neoplasm
is_a: MONDO:0021492 {source="MONDO:Redundant", source="NCIT:C4770"} ! benign neoplasm of major salivary gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001831 ! parotid gland

[Term]
id: MONDO:0021495
name: benign neoplasm of sublingual gland
def: "A benign neoplasm that involves the sublingual gland." [MONDO:patterns/location]
synonym: "benign neoplasm of the sublingual gland" EXACT [NCIT:C4601]
synonym: "benign sublingual gland neoplasm" EXACT [NCIT:C4601]
synonym: "benign sublingual gland tumor" EXACT [NCIT:C4601]
synonym: "benign sublingual gland tumour" EXACT OMO:0003005 []
synonym: "benign tumor of sublingual gland" EXACT [NCIT:C4601]
synonym: "benign tumor of the sublingual gland" EXACT [NCIT:C4601]
synonym: "benign tumour of sublingual gland" EXACT OMO:0003005 []
synonym: "benign tumour of the sublingual gland" EXACT OMO:0003005 []
synonym: "sublingual gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:83858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4601 {source="MONDO:equivalentTo"}
xref: SCTID:92413008 {source="MONDO:equivalentTo"}
xref: UMLS:C0347208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83858"}
is_a: MONDO:0021242 {source="MONDO:Redundant", source="NCIT:C4601"} ! sublingual gland neoplasm
is_a: MONDO:0021492 {source="MONDO:Redundant", source="NCIT:C4601"} ! benign neoplasm of major salivary gland
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001832 ! sublingual gland

[Term]
id: MONDO:0021496
name: benign neoplasm of lip
def: "A benign neoplasm that involves the lip." [MONDO:patterns/location]
synonym: "benign Lip neoplasm" EXACT [NCIT:C3591]
synonym: "benign Lip tumor" EXACT [NCIT:C3591]
synonym: "benign Lip tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the Lip" EXACT [NCIT:C3591]
synonym: "benign tumor of Lip" EXACT [NCIT:C3591]
synonym: "benign tumor of the Lip" EXACT [NCIT:C3591]
synonym: "benign tumour of Lip" EXACT OMO:0003005 []
synonym: "benign tumour of the Lip" EXACT OMO:0003005 []
synonym: "lip benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "lip neoplasm, benign" EXACT [NCIT:C3591]
xref: ICD10CM:D10.0 {source="MONDO:equivalentTo"}
xref: ICD9:210.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3591 {source="MONDO:equivalentTo"}
xref: SCTID:92185002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102294"}
is_a: MONDO:0021249 {source="MONDO:Redundant", source="NCIT:C3591"} ! lip neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001833 ! lip

[Term]
id: MONDO:0021497
name: benign neoplasm of cerebrum
def: "A benign neoplasm that involves the telencephalon." [MONDO:patterns/location]
synonym: "benign cerebral hemispheric neoplasm" EXACT [NCIT:C8548]
synonym: "benign cerebral hemispheric tumor" EXACT [NCIT:C8548]
synonym: "benign cerebral hemispheric tumour" EXACT OMO:0003005 []
synonym: "benign cerebral neoplasm" EXACT [NCIT:C8548]
synonym: "benign cerebral tumor" EXACT [NCIT:C8548]
synonym: "benign cerebral tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of cerebral hemispheres" EXACT [NCIT:C8548]
synonym: "benign neoplasm of the cerebral hemispheres" EXACT [NCIT:C8548]
synonym: "benign neoplasm of the cerebrum" EXACT [NCIT:C8548]
synonym: "benign tumor of cerebral hemispheres" EXACT [NCIT:C8548]
synonym: "benign tumor of cerebrum" EXACT [NCIT:C8548]
synonym: "benign tumor of the cerebral hemispheres" EXACT [NCIT:C8548]
synonym: "benign tumor of the cerebrum" EXACT [NCIT:C8548]
synonym: "benign tumour of cerebral hemispheres" EXACT OMO:0003005 []
synonym: "benign tumour of cerebrum" EXACT OMO:0003005 []
synonym: "benign tumour of the cerebral hemispheres" EXACT OMO:0003005 []
synonym: "benign tumour of the cerebrum" EXACT OMO:0003005 []
synonym: "telencephalon benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:195785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8548 {source="MONDO:equivalentTo"}
xref: SCTID:275269004 {source="MONDO:equivalentTo"}
xref: UMLS:C0686378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195785"}
is_a: MONDO:0021374 {source="MONDO:Entailed", source="NCIT:C8548", source="NCIT:C8548/inferred"} ! neoplasm of cerebral hemisphere
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C8548/inferred"} ! benign neoplasm of brain
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001893 ! telencephalon

[Term]
id: MONDO:0021498
name: benign neoplasm of placenta
def: "A benign neoplasm that involves the placenta." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the placenta" EXACT [NCIT:C8545]
synonym: "benign placenta neoplasm" EXACT [NCIT:C8545]
synonym: "benign placenta tumor" EXACT [NCIT:C8545]
synonym: "benign placenta tumour" EXACT OMO:0003005 []
synonym: "benign placental neoplasm" EXACT [NCIT:C8545]
synonym: "benign placental tumor" EXACT [NCIT:C8545]
synonym: "benign placental tumour" EXACT OMO:0003005 []
synonym: "benign tumor of placenta" EXACT [NCIT:C8545]
synonym: "benign tumor of the placenta" EXACT [NCIT:C8545]
synonym: "benign tumour of placenta" EXACT OMO:0003005 []
synonym: "benign tumour of the placenta" EXACT OMO:0003005 []
synonym: "placenta benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "placental neoplasms, benign" EXACT [NCIT:C8545]
xref: EFO:1001443 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:219.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:146350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8545 {source="MONDO:equivalentTo"}
xref: SCTID:92297008 {source="MONDO:equivalentTo"}
xref: UMLS:C0686274 {source="MEDGEN:146350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021218 {source="MONDO:Redundant", source="NCIT:C8545"} ! placenta neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001987 ! placenta

[Term]
id: MONDO:0021499
name: benign neoplasm of cerebellum
def: "A benign neoplasm that involves the cerebellum." [MONDO:patterns/location]
synonym: "benign cerebellar neoplasm" EXACT [NCIT:C4955]
synonym: "benign cerebellar neoplasms" EXACT [NCIT:C4955]
synonym: "benign cerebellar tumor" EXACT [NCIT:C4955]
synonym: "benign cerebellar tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the cerebellum" EXACT [NCIT:C4955]
synonym: "benign tumor of cerebellum" EXACT [NCIT:C4955]
synonym: "benign tumor of the cerebellum" EXACT [NCIT:C4955]
synonym: "benign tumour of cerebellum" EXACT OMO:0003005 []
synonym: "benign tumour of the cerebellum" EXACT OMO:0003005 []
synonym: "cerebellar neoplasms, benign" EXACT [NCIT:C4955]
synonym: "cerebellum benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "neoplasms, benign, cerebellar" EXACT [NCIT:C4955]
synonym: "neoplasms, cerebellar, benign" EXACT [NCIT:C4955]
xref: MEDGEN:196704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4955 {source="MONDO:equivalentTo"}
xref: SCTID:92050000 {source="MONDO:equivalentTo"}
xref: UMLS:C0750995 {source="MEDGEN:196704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002913 {source="MONDO:Redundant", source="NCIT:C4955"} ! cerebellar neoplasm
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C4955/inferred"} ! benign neoplasm of brain
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002037 ! cerebellum

[Term]
id: MONDO:0021500
name: benign neoplasm of spleen
def: "A benign neoplasm that involves the spleen." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "benign neoplasm of the spleen" EXACT [NCIT:C4902]
synonym: "benign splenic neoplasm" EXACT [NCIT:C4902]
synonym: "spleen benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:211.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:146355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4902 {source="MONDO:equivalentTo"}
xref: SCTID:92408009 {source="MONDO:equivalentTo"}
xref: UMLS:C0686615 {source="MEDGEN:146355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0021501
name: benign neoplasm of small intestine
def: "A benign neoplasm that involves the small intestine." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the small intestine" EXACT [NCIT:C3600]
synonym: "benign small intestinal neoplasm" EXACT [NCIT:C3600]
synonym: "benign small intestinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3600]
synonym: "benign small intestinal tumor" EXACT [NCIT:C3600]
synonym: "benign small intestinal tumour" EXACT OMO:0003005 []
synonym: "benign small intestine neoplasm" EXACT [NCIT:C3600]
synonym: "benign small intestine tumor" EXACT [NCIT:C3600]
synonym: "benign small intestine tumour" EXACT OMO:0003005 []
synonym: "benign tumor of small intestine" EXACT [NCIT:C3600]
synonym: "benign tumor of the small intestine" EXACT [NCIT:C3600]
synonym: "benign tumour of small intestine" EXACT OMO:0003005 []
synonym: "benign tumour of the small intestine" EXACT OMO:0003005 []
synonym: "small intestine benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:211.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3600 {source="MONDO:equivalentTo"}
xref: SCTID:92385005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56324"}
is_a: MONDO:0003062 {source="MONDO:Redundant", source="NCIT:C3600"} ! intestinal benign neoplasm
is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C3600"} ! small intestine neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0021503
name: benign neoplasm of gallbladder
def: "A benign neoplasm that involves the gall bladder." [MONDO:patterns/location]
synonym: "benign gallbladder neoplasm" EXACT [NCIT:C4440]
synonym: "benign gallbladder tumor" EXACT [NCIT:C4440]
synonym: "benign gallbladder tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the gallbladder" EXACT [NCIT:C4440]
synonym: "benign tumor of gallbladder" EXACT [NCIT:C4440]
synonym: "benign tumor of the gallbladder" EXACT [NCIT:C4440]
synonym: "benign tumour of gallbladder" EXACT OMO:0003005 []
synonym: "benign tumour of the gallbladder" EXACT OMO:0003005 []
synonym: "gall bladder benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "gallbladder benign neoplasm" EXACT [NCIT:C4440]
synonym: "gallbladder benign tumor" EXACT [NCIT:C4440]
synonym: "gallbladder benign tumour" EXACT OMO:0003005 []
xref: DOID:0080640 {source="MONDO:equivalentTo"}
xref: MEDGEN:87524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4440 {source="MONDO:equivalentTo"}
xref: SCTID:92117002 {source="MONDO:equivalentTo"}
xref: UMLS:C0345912 {source="MEDGEN:87524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C4440"} ! benign digestive system neoplasm
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C4440"} ! gallbladder neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0021505
name: benign neoplasm of endocardium
def: "A benign neoplasm that involves the endocardium." [MONDO:patterns/location]
synonym: "benign endocardial neoplasm" EXACT [NCIT:C4608]
synonym: "benign endocardial tumor" EXACT [NCIT:C4608]
synonym: "benign endocardial tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the endocardium" EXACT [NCIT:C4608]
synonym: "benign tumor of endocardium" EXACT [NCIT:C4608]
synonym: "benign tumor of the endocardium" EXACT [NCIT:C4608]
synonym: "benign tumour of endocardium" EXACT OMO:0003005 []
synonym: "benign tumour of the endocardium" EXACT OMO:0003005 []
synonym: "endocardium benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:83863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4608 {source="MONDO:equivalentTo"}
xref: SCTID:92083007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347254 {source="MEDGEN:83863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021378 {source="MONDO:Redundant", source="NCIT:C4608"} ! neoplasm of endocardium
is_a: MONDO:0021450 {source="MONDO:Redundant", source="NCIT:C4608"} ! benign neoplasm of heart
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002165 ! endocardium

[Term]
id: MONDO:0021506
name: benign neoplasm of spinal cord
def: "A benign neoplasm that involves the spinal cord." [MONDO:patterns/location]
synonym: "benign neoplasm of the spinal cord" EXACT [NCIT:C3627]
synonym: "benign spinal cord neoplasm" EXACT [NCIT:C3627]
synonym: "benign spinal cord tumor" EXACT [NCIT:C3627]
synonym: "benign spinal cord tumour" EXACT OMO:0003005 []
synonym: "benign tumor of spinal cord" EXACT [NCIT:C3627]
synonym: "benign tumor of the spinal cord" EXACT [NCIT:C3627]
synonym: "benign tumour of spinal cord" EXACT OMO:0003005 []
synonym: "benign tumour of the spinal cord" EXACT OMO:0003005 []
synonym: "spinal cord benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "spinal cord neoplasm, benign" EXACT [NCIT:C3627]
xref: ICD10CM:D33.4 {source="MONDO:equivalentTo"}
xref: ICD9:225.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3627 {source="MONDO:equivalentTo"}
xref: SCTID:92405007 {source="MONDO:equivalentTo"}
xref: UMLS:C0154034 {source="MEDGEN:56329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021234 {source="MONDO:Redundant", source="NCIT:C3627"} ! spinal cord neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0021507
name: benign neoplasm of brain stem
def: "A benign neoplasm that involves the brainstem." [MONDO:patterns/location]
synonym: "benign brain stem neoplasm" EXACT [NCIT:C8549]
synonym: "benign brain stem neoplasms" EXACT [NCIT:C8549]
synonym: "benign brain stem tumor" EXACT [NCIT:C8549]
synonym: "benign brain stem tumour" EXACT OMO:0003005 []
synonym: "benign brainstem neoplasm" EXACT [NCIT:C8549]
synonym: "benign brainstem neoplasms" EXACT [NCIT:C8549]
synonym: "benign brainstem tumor" EXACT [NCIT:C8549]
synonym: "benign brainstem tumors" EXACT [NCIT:C8549]
synonym: "benign brainstem tumour" EXACT OMO:0003005 []
synonym: "benign brainstem tumours" EXACT OMO:0003005 []
synonym: "benign neoplasm of brainstem" EXACT [NCIT:C8549]
synonym: "benign neoplasm of the brain stem" EXACT [NCIT:C8549]
synonym: "benign neoplasm of the brainstem" EXACT [NCIT:C8549]
synonym: "benign neoplasms of brainstem" EXACT [NCIT:C8549]
synonym: "benign neoplasms of the brainstem" EXACT [NCIT:C8549]
synonym: "benign tumor of brain stem" EXACT [NCIT:C8549]
synonym: "benign tumor of brainstem" EXACT [NCIT:C8549]
synonym: "benign tumor of the brain stem" EXACT [NCIT:C8549]
synonym: "benign tumor of the brainstem" EXACT [NCIT:C8549]
synonym: "benign tumors of brainstem" EXACT [NCIT:C8549]
synonym: "benign tumors of the brainstem" EXACT [NCIT:C8549]
synonym: "benign tumour of brain stem" EXACT OMO:0003005 []
synonym: "benign tumour of brainstem" EXACT OMO:0003005 []
synonym: "benign tumour of the brain stem" EXACT OMO:0003005 []
synonym: "benign tumour of the brainstem" EXACT OMO:0003005 []
synonym: "benign tumours of brainstem" EXACT OMO:0003005 []
synonym: "benign tumours of the brainstem" EXACT OMO:0003005 []
synonym: "brainstem benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:146353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8549 {source="MONDO:equivalentTo"}
xref: SCTID:92029009 {source="MONDO:equivalentTo"}
xref: UMLS:C0686400 {source="MEDGEN:146353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021228 {source="MONDO:Redundant", source="NCIT:C8549/inferred"} ! brainstem neoplasm
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C8549/inferred"} ! benign neoplasm of brain
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002298 ! brainstem

[Term]
id: MONDO:0021508
name: benign neoplasm of epicardium
def: "A benign neoplasm that involves the epicardium." [MONDO:patterns/location]
synonym: "benign epicardial neoplasm" EXACT [NCIT:C8535]
synonym: "benign epicardial tumor" EXACT [NCIT:C8535]
synonym: "benign epicardial tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the epicardium" EXACT [NCIT:C8535]
synonym: "benign tumor of epicardium" EXACT [NCIT:C8535]
synonym: "benign tumor of the epicardium" EXACT [NCIT:C8535]
synonym: "benign tumour of epicardium" EXACT OMO:0003005 []
synonym: "benign tumour of the epicardium" EXACT OMO:0003005 []
synonym: "epicardium benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:146342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8535 {source="MONDO:equivalentTo"}
xref: SCTID:92087008 {source="MONDO:equivalentTo"}
xref: UMLS:C0685115 {source="MEDGEN:146342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021379 {source="MONDO:Redundant", source="NCIT:C8535"} ! neoplasm of epicardium
is_a: MONDO:0021450 {source="MONDO:Redundant", source="NCIT:C8535"} ! benign neoplasm of heart
is_a: MONDO:0021514 {source="MONDO:Redundant"} ! benign neoplasm of pericardium
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002348 ! epicardium

[Term]
id: MONDO:0021509
name: benign neoplasm of myocardium
def: "A benign neoplasm that involves the myocardium." [MONDO:patterns/location]
synonym: "benign myocardial neoplasm" EXACT [NCIT:C4607]
synonym: "benign myocardial tumor" EXACT [NCIT:C4607]
synonym: "benign myocardial tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the myocardium" EXACT [NCIT:C4607]
synonym: "benign tumor of myocardium" EXACT [NCIT:C4607]
synonym: "benign tumor of the myocardium" EXACT [NCIT:C4607]
synonym: "benign tumour of myocardium" EXACT OMO:0003005 []
synonym: "benign tumour of the myocardium" EXACT OMO:0003005 []
synonym: "myocardium benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:83862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4607 {source="MONDO:equivalentTo"}
xref: SCTID:92238001 {source="MONDO:equivalentTo"}
xref: UMLS:C0347253 {source="MEDGEN:83862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021380 {source="MONDO:Redundant", source="NCIT:C4607"} ! neoplasm of myocardium
is_a: MONDO:0021450 {source="MONDO:Redundant", source="NCIT:C4607"} ! benign neoplasm of heart
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002349 ! myocardium

[Term]
id: MONDO:0021510
name: benign neoplasm of prostate
def: "A benign neoplasm that involves the prostate gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of the prostate" EXACT [NCIT:C3613]
synonym: "benign prostate neoplasm" EXACT [NCIT:C3613]
synonym: "benign prostate tumor" EXACT [NCIT:C3613]
synonym: "benign prostate tumour" EXACT OMO:0003005 []
synonym: "benign prostatic neoplasm" EXACT [NCIT:C3613]
synonym: "benign tumor of prostate" EXACT [NCIT:C3613]
synonym: "benign tumor of the prostate" EXACT [NCIT:C3613]
synonym: "benign tumour of prostate" EXACT OMO:0003005 []
synonym: "benign tumour of the prostate" EXACT OMO:0003005 []
synonym: "prostate gland benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D29.1 {source="MONDO:equivalentTo"}
xref: ICD9:222.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3613 {source="MONDO:equivalentTo"}
xref: SCTID:92308005 {source="MONDO:equivalentTo"}
xref: UMLS:C0154009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57577"}
is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C3613"} ! prostate neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0021511
name: benign neoplasm of adrenal gland
def: "A benign neoplasm that involves the adrenal gland." [MONDO:patterns/location]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal gland benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "benign adrenal gland neoplasm" EXACT [NCIT:C3629]
synonym: "benign adrenal gland tumor" EXACT [NCIT:C3629]
synonym: "benign adrenal gland tumour" EXACT OMO:0003005 []
synonym: "benign adrenal neoplasm" EXACT [NCIT:C3629]
synonym: "benign adrenal tumor" EXACT [NCIT:C3629]
synonym: "benign adrenal tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the adrenal gland" EXACT [NCIT:C3629]
synonym: "benign tumor of adrenal gland" EXACT [NCIT:C3629]
synonym: "benign tumor of the adrenal gland" EXACT [NCIT:C3629]
synonym: "benign tumour of adrenal gland" EXACT OMO:0003005 []
synonym: "benign tumour of the adrenal gland" EXACT OMO:0003005 []
xref: ICD9:227.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3629 {source="MONDO:equivalentTo"}
xref: SCTID:91967007 {source="MONDO:equivalentTo"}
xref: UMLS:C0154040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56330"}
is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm
is_a: MONDO:0021227 {source="MONDO:Redundant", source="NCIT:C3629"} ! adrenal gland neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002369 ! adrenal gland

[Term]
id: MONDO:0021512
name: benign neoplasm of thymus
def: "A benign neoplasm that involves the thymus." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "benign neoplasm of the Thymus" EXACT [NCIT:C4458]
synonym: "benign thymic neoplasm" EXACT [NCIT:C4458]
synonym: "benign thymic tumor" EXACT [NCIT:C4458]
synonym: "benign thymic tumour" EXACT OMO:0003005 []
synonym: "benign Thymus neoplasm" EXACT [NCIT:C4458]
synonym: "benign Thymus tumor" EXACT [NCIT:C4458]
synonym: "benign Thymus tumour" EXACT OMO:0003005 []
synonym: "benign tumor of the Thymus" EXACT [NCIT:C4458]
synonym: "benign tumor of Thymus" EXACT [NCIT:C4458]
synonym: "benign tumour of the Thymus" EXACT OMO:0003005 []
synonym: "benign tumour of Thymus" EXACT OMO:0003005 []
synonym: "thymus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D15.0 {source="MONDO:equivalentTo"}
xref: ICD9:212.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:87526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4458 {source="MONDO:equivalentTo"}
xref: SCTID:92437008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345975 {source="MEDGEN:87526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005197 {source="MONDO:Redundant", source="NCIT:C4458"} ! thymus neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002370 ! thymus

[Term]
id: MONDO:0021513
name: benign neoplasm of tonsil
def: "A benign neoplasm that involves the tonsil." [MONDO:patterns/location]
synonym: "benign neoplasm of the tonsil" EXACT [NCIT:C3594]
synonym: "benign tonsil neoplasm" EXACT [NCIT:C3594]
synonym: "benign tonsil tumor" EXACT [NCIT:C3594]
synonym: "benign tonsil tumour" EXACT OMO:0003005 []
synonym: "benign tonsillar neoplasm" EXACT [NCIT:C3594]
synonym: "benign tonsillar tumor" EXACT [NCIT:C3594]
synonym: "benign tonsillar tumour" EXACT OMO:0003005 []
synonym: "benign tumor of the tonsil" EXACT [NCIT:C3594]
synonym: "benign tumor of tonsil" EXACT [NCIT:C3594]
synonym: "benign tumour of the tonsil" EXACT OMO:0003005 []
synonym: "benign tumour of tonsil" EXACT OMO:0003005 []
synonym: "tonsil benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "tonsillar neoplasm, benign" EXACT [NCIT:C3594]
xref: ICD10CM:D10.4 {source="MONDO:equivalentTo"}
xref: ICD9:210.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3594 {source="MONDO:equivalentTo"}
xref: SCTID:92263001 {source="MONDO:equivalentTo"}
xref: UMLS:C0153936 {source="MEDGEN:57804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0021250 {source="MONDO:Redundant", source="NCIT:C3594"} ! tonsil neoplasm
is_a: MONDO:0021523 {source="MONDO:Redundant", source="NCIT:C3594/inferred"} ! benign neoplasm of pharynx
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002372 ! tonsil

[Term]
id: MONDO:0021514
name: benign neoplasm of pericardium
def: "A benign neoplasm that involves the pericardium." [MONDO:patterns/location]
synonym: "benign neoplasm of the pericardium" EXACT [NCIT:C8536]
synonym: "benign pericardial neoplasm" EXACT [NCIT:C8536]
synonym: "benign pericardial tumor" EXACT [NCIT:C8536]
synonym: "benign pericardial tumour" EXACT OMO:0003005 []
synonym: "benign tumor of pericardium" EXACT [NCIT:C8536]
synonym: "benign tumor of the pericardium" EXACT [NCIT:C8536]
synonym: "benign tumour of pericardium" EXACT OMO:0003005 []
synonym: "benign tumour of the pericardium" EXACT OMO:0003005 []
synonym: "pericardium benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:151928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8536 {source="MONDO:equivalentTo"}
xref: SCTID:92289001 {source="MONDO:equivalentTo"}
xref: UMLS:C0685118 {source="MEDGEN:151928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C8536", source="NCIT:C8536/inferred"} ! thoracic benign neoplasm
is_a: MONDO:0021381 {source="MONDO:Redundant", source="NCIT:C8536"} ! neoplasm of pericardium
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002407 ! pericardium

[Term]
id: MONDO:0021515
name: benign neoplasm of ethmoidal sinus
def: "A benign neoplasm that involves the ethmoid sinus." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "benign ethmoid sinus neoplasm" EXACT [NCIT:C4417]
synonym: "benign ethmoid sinus tumor" EXACT [NCIT:C4417]
synonym: "benign ethmoid sinus tumour" EXACT OMO:0003005 []
synonym: "benign ethmoidal sinus neoplasm" EXACT [NCIT:C4417]
synonym: "benign ethmoidal sinus tumor" EXACT [NCIT:C4417]
synonym: "benign ethmoidal sinus tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of ethmoid sinus" EXACT [NCIT:C4417]
synonym: "benign neoplasm of the ethmoid sinus" EXACT [NCIT:C4417]
synonym: "benign neoplasm of the ethmoidal sinus" EXACT [NCIT:C4417]
synonym: "benign tumor of ethmoid sinus" EXACT [NCIT:C4417]
synonym: "benign tumor of ethmoidal sinus" EXACT [NCIT:C4417]
synonym: "benign tumor of the ethmoid sinus" EXACT [NCIT:C4417]
synonym: "benign tumor of the ethmoidal sinus" EXACT [NCIT:C4417]
synonym: "benign tumour of ethmoid sinus" EXACT OMO:0003005 []
synonym: "benign tumour of ethmoidal sinus" EXACT OMO:0003005 []
synonym: "benign tumour of the ethmoid sinus" EXACT OMO:0003005 []
synonym: "benign tumour of the ethmoidal sinus" EXACT OMO:0003005 []
synonym: "ethmoid sinus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4417 {source="MONDO:equivalentTo"}
xref: SCTID:92093000 {source="MONDO:equivalentTo"}
xref: UMLS:C0345670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91050"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0001764 {source="MONDO:Redundant", source="NCIT:C4417"} ! ethmoidal sinus neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus

[Term]
id: MONDO:0021516
name: benign neoplasm of glottis
def: "A benign neoplasm that involves the glottis." [MONDO:patterns/location]
synonym: "benign glottis neoplasm" EXACT [NCIT:C4605]
synonym: "benign glottis tumor" EXACT [NCIT:C4605]
synonym: "benign glottis tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the glottis" EXACT [NCIT:C4605]
synonym: "benign tumor of glottis" EXACT [NCIT:C4605]
synonym: "benign tumor of the glottis" EXACT [NCIT:C4605]
synonym: "benign tumour of glottis" EXACT OMO:0003005 []
synonym: "benign tumour of the glottis" EXACT OMO:0003005 []
synonym: "glottis benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:91123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4605 {source="MONDO:equivalentTo"}
xref: SCTID:92123007 {source="MONDO:equivalentTo"}
xref: UMLS:C0347234 {source="MEDGEN:91123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002353 {source="MONDO:Redundant", source="NCIT:C4605"} ! glottis neoplasm
is_a: MONDO:0002354 {source="MONDO:Redundant", source="NCIT:C4605"} ! benign laryngeal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0002486 ! glottis

[Term]
id: MONDO:0021517
name: benign neoplasm of trachea
def: "A benign neoplasm that involves the trachea." [MONDO:patterns/location]
synonym: "benign neoplasm of the trachea" EXACT [NCIT:C3602]
synonym: "benign trachea neoplasm" EXACT [NCIT:C3602]
synonym: "benign trachea tumor" EXACT [NCIT:C3602]
synonym: "benign trachea tumour" EXACT OMO:0003005 []
synonym: "benign tracheal neoplasm" EXACT [NCIT:C3602]
synonym: "benign tracheal tumor" EXACT [NCIT:C3602]
synonym: "benign tracheal tumour" EXACT OMO:0003005 []
synonym: "benign tumor of the trachea" EXACT [NCIT:C3602]
synonym: "benign tumor of trachea" EXACT [NCIT:C3602]
synonym: "benign tumour of the trachea" EXACT OMO:0003005 []
synonym: "benign tumour of trachea" EXACT OMO:0003005 []
synonym: "trachea benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D14.2 {source="MONDO:equivalentTo"}
xref: ICD9:212.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3602 {source="MONDO:equivalentTo"}
xref: SCTID:92446002 {source="MONDO:equivalentTo"}
xref: UMLS:C0153953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56326"}
is_a: MONDO:0000382 {source="MONDO:Redundant"} ! respiratory system benign neoplasm
is_a: MONDO:0021210 {source="MONDO:Redundant", source="NCIT:C3602"} ! trachea neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0003126 ! trachea

[Term]
id: MONDO:0021518
name: benign neoplasm of hard palate
def: "A benign neoplasm that involves the hard palate." [MONDO:patterns/location]
synonym: "benign hard palate neoplasm" EXACT [NCIT:C4403]
synonym: "benign hard palate tumor" EXACT [NCIT:C4403]
synonym: "benign hard palate tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the hard palate" EXACT [NCIT:C4403]
synonym: "benign tumor of hard palate" EXACT [NCIT:C4403]
synonym: "benign tumor of the hard palate" EXACT [NCIT:C4403]
synonym: "benign tumour of hard palate" EXACT OMO:0003005 []
synonym: "benign tumour of the hard palate" EXACT OMO:0003005 []
synonym: "hard palate benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:138020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4403 {source="MONDO:equivalentTo"}
xref: SCTID:92129006 {source="MONDO:equivalentTo"}
xref: UMLS:C0345552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138020"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4403/inferred"} ! head and neck neoplasm
is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C4403/inferred"} ! mouth disorder
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0003216 ! hard palate

[Term]
id: MONDO:0021520
name: benign neoplasm of floor of mouth
def: "A benign neoplasm that involves the mouth floor." [MONDO:patterns/location]
synonym: "benign floor of mouth neoplasm" EXACT [NCIT:C3593]
synonym: "benign floor of mouth tumor" EXACT [NCIT:C3593]
synonym: "benign floor of mouth tumour" EXACT OMO:0003005 []
synonym: "benign floor of the mouth neoplasm" EXACT [NCIT:C3593]
synonym: "benign floor of the mouth tumor" EXACT [NCIT:C3593]
synonym: "benign floor of the mouth tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the floor of the mouth" EXACT [NCIT:C3593]
synonym: "benign tumor of floor of mouth" EXACT [NCIT:C3593]
synonym: "benign tumor of the floor of the mouth" EXACT [NCIT:C3593]
synonym: "benign tumour of floor of mouth" EXACT OMO:0003005 []
synonym: "benign tumour of the floor of the mouth" EXACT OMO:0003005 []
synonym: "mouth floor benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D10.2 {source="MONDO:equivalentTo"}
xref: ICD9:210.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3593 {source="MONDO:equivalentTo"}
xref: SCTID:92109005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153934 {source="MEDGEN:102295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021383 {source="MONDO:Redundant", source="NCIT:C3593"} ! neoplasm of floor of mouth
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0003679 ! mouth floor

[Term]
id: MONDO:0021521
name: benign neoplasm of mediastinum
def: "A benign neoplasm that involves the mediastinum." [MONDO:patterns/location]
synonym: "benign mediastinal neoplasm" EXACT [NCIT:C3604]
synonym: "benign mediastinal neoplasms NOS" RELATED EXCLUDE [NCIT:C3604]
synonym: "benign mediastinal tumor" EXACT [NCIT:C3604]
synonym: "benign mediastinal tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the mediastinum" EXACT [NCIT:C3604]
synonym: "benign tumor of mediastinum" EXACT [NCIT:C3604]
synonym: "benign tumor of the mediastinum" EXACT [NCIT:C3604]
synonym: "benign tumour of mediastinum" EXACT OMO:0003005 []
synonym: "benign tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "mediastinum benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D15.2 {source="MONDO:equivalentTo"}
xref: ICD9:212.5 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3604 {source="MONDO:equivalentTo"}
xref: SCTID:92214000 {source="MONDO:equivalentTo"}
xref: UMLS:C0153956 {source="MEDGEN:102298", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C3604"} ! thoracic benign neoplasm
is_a: MONDO:0021386 {source="MONDO:Redundant", source="NCIT:C3604"} ! neoplasm of mediastinum
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0021522
name: benign neoplasm of lower jaw bone
def: "A benign neoplasm that involves the bone of lower jaw." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "bone of lower jaw benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD10CM:D16.5 {source="MONDO:equivalentTo"}
xref: ICD9:213.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:2572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34417 {source="MONDO:equivalentTo"}
xref: SCTID:92208007 {source="MONDO:equivalentTo"}
xref: UMLS:C0004994 {source="MEDGEN:2572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 {source="MONDO:Entailed"} ! bone disorder
is_a: MONDO:0005586 {source="MONDO:Redundant"} ! head and neck neoplasm
is_a: MONDO:0021580 {source="MONDO:Redundant"} ! neoplasm of jaw
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0004768 ! bone of lower jaw

[Term]
id: MONDO:0021523
name: benign neoplasm of pharynx
def: "A benign neoplasm that involves the pharynx." [MONDO:patterns/location]
synonym: "benign neoplasm of the pharynx" EXACT [NCIT:C3597]
synonym: "benign pharyngeal neoplasm" EXACT [NCIT:C3597]
synonym: "benign pharyngeal tumor" EXACT [NCIT:C3597]
synonym: "benign pharyngeal tumour" EXACT OMO:0003005 []
synonym: "benign pharynx neoplasm" EXACT [NCIT:C3597]
synonym: "benign pharynx tumor" EXACT [NCIT:C3597]
synonym: "benign pharynx tumour" EXACT OMO:0003005 []
synonym: "benign tumor of pharynx" EXACT [NCIT:C3597]
synonym: "benign tumor of the pharynx" EXACT [NCIT:C3597]
synonym: "benign tumour of pharynx" EXACT OMO:0003005 []
synonym: "benign tumour of the pharynx" EXACT OMO:0003005 []
synonym: "pharyngeal neoplasm benign" EXACT [NCIT:C3597]
synonym: "pharynx benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3597 {source="MONDO:equivalentTo"}
xref: SCTID:92293007 {source="MONDO:equivalentTo"}
xref: UMLS:C0153940 {source="MEDGEN:102296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021246 {source="MONDO:Redundant", source="NCIT:C3597"} ! pharynx neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0006562 ! pharynx

[Term]
id: MONDO:0021524
name: benign neoplasm of buccal mucosa
def: "A benign neoplasm that involves the buccal mucosa." [MONDO:patterns/location]
synonym: "benign buccal mucosa neoplasm" EXACT [NCIT:C4406]
synonym: "benign buccal mucosa tumor" EXACT [NCIT:C4406]
synonym: "benign buccal mucosa tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the buccal mucosa" EXACT [NCIT:C4406]
synonym: "benign tumor of buccal mucosa" EXACT [NCIT:C4406]
synonym: "benign tumor of the buccal mucosa" EXACT [NCIT:C4406]
synonym: "benign tumour of buccal mucosa" EXACT OMO:0003005 []
synonym: "benign tumour of the buccal mucosa" EXACT OMO:0003005 []
synonym: "buccal mucosa benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4406 {source="MONDO:equivalentTo"}
xref: SCTID:92039003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345566 {source="MEDGEN:91046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021241 {source="MONDO:Redundant", source="NCIT:C4406"} ! buccal mucosa neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0006956 ! buccal mucosa

[Term]
id: MONDO:0021525
name: benign neoplasm of corpus uteri
def: "A benign neoplasm that involves the body of uterus." [MONDO:patterns/location]
synonym: "benign corpus uteri neoplasm" EXACT [NCIT:C3608]
synonym: "benign corpus uteri tumor" EXACT [NCIT:C3608]
synonym: "benign corpus uteri tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of body of uterus" EXACT [NCIT:C3608]
synonym: "benign neoplasm of the body of uterus" EXACT [NCIT:C3608]
synonym: "benign neoplasm of the corpus uteri" EXACT [NCIT:C3608]
synonym: "benign neoplasm of the uterine body" EXACT [NCIT:C3608]
synonym: "benign neoplasm of the uterine corpus" EXACT [NCIT:C3608]
synonym: "benign neoplasm of uterine body" EXACT [NCIT:C3608]
synonym: "benign neoplasm of uterine corpus" EXACT [NCIT:C3608]
synonym: "benign tumor of body of uterus" EXACT [NCIT:C3608]
synonym: "benign tumor of corpus uteri" EXACT [NCIT:C3608]
synonym: "benign tumor of the body of uterus" EXACT [NCIT:C3608]
synonym: "benign tumor of the corpus uteri" EXACT [NCIT:C3608]
synonym: "benign tumor of the uterine body" EXACT [NCIT:C3608]
synonym: "benign tumor of the uterine corpus" EXACT [NCIT:C3608]
synonym: "benign tumor of uterine body" EXACT [NCIT:C3608]
synonym: "benign tumor of uterine corpus" EXACT [NCIT:C3608]
synonym: "benign tumour of body of uterus" EXACT OMO:0003005 []
synonym: "benign tumour of corpus uteri" EXACT OMO:0003005 []
synonym: "benign tumour of the body of uterus" EXACT OMO:0003005 []
synonym: "benign tumour of the corpus uteri" EXACT OMO:0003005 []
synonym: "benign tumour of the uterine body" EXACT OMO:0003005 []
synonym: "benign tumour of the uterine corpus" EXACT OMO:0003005 []
synonym: "benign tumour of uterine body" EXACT OMO:0003005 []
synonym: "benign tumour of uterine corpus" EXACT OMO:0003005 []
synonym: "benign uterine body neoplasm" EXACT [NCIT:C3608]
synonym: "benign uterine body tumor" EXACT [NCIT:C3608]
synonym: "benign uterine body tumour" EXACT OMO:0003005 []
synonym: "benign uterine corpus neoplasm" EXACT [NCIT:C3608]
synonym: "benign uterine corpus tumor" EXACT [NCIT:C3608]
synonym: "benign uterine corpus tumour" EXACT OMO:0003005 []
synonym: "body of uterus benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:219.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3608 {source="MONDO:equivalentTo"}
xref: SCTID:92021007 {source="MONDO:equivalentTo"}
xref: UMLS:C0153998 {source="MEDGEN:57808", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000383 {source="MONDO:Redundant", source="NCIT:C3608/inferred"} ! benign reproductive system neoplasm
is_a: MONDO:0000632 {source="MONDO:Redundant", source="NCIT:C3608"} ! uterine benign neoplasm
is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C3608"} ! corpus uteri neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0021527
name: benign neoplasm of meninges
def: "A benign neoplasm that involves the meningeal cluster." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "benign meningeal neoplasm" EXACT [NCIT:C4957]
synonym: "benign meningeal neoplasms" EXACT [NCIT:C4957]
synonym: "benign meningeal tumor" EXACT [NCIT:C4957]
synonym: "benign meningeal tumors" EXACT [NCIT:C4957]
synonym: "benign meningeal tumour" EXACT OMO:0003005 []
synonym: "benign meningeal tumours" EXACT OMO:0003005 []
synonym: "benign meninges neoplasm" EXACT [NCIT:C4957]
synonym: "benign meninges tumor" EXACT [NCIT:C4957]
synonym: "benign meninges tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the meninges" EXACT [NCIT:C4957]
synonym: "benign neoplasms of meninges" EXACT [NCIT:C4957]
synonym: "benign neoplasms of the meninges" EXACT [NCIT:C4957]
synonym: "benign tumor of meninges" EXACT [NCIT:C4957]
synonym: "benign tumor of the meninges" EXACT [NCIT:C4957]
synonym: "benign tumour of meninges" EXACT OMO:0003005 []
synonym: "benign tumour of the meninges" EXACT OMO:0003005 []
synonym: "meningeal cluster benign neoplasm" EXACT [MONDO:patterns/location]
synonym: "meningeal tumors, benign" EXACT [NCIT:C4957]
xref: ICD10CM:D32 {source="MONDO:equivalentTo"}
xref: MEDGEN:138093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4957 {source="MONDO:equivalentTo"}
xref: SCTID:109913001 {source="MONDO:equivalentTo"}
xref: UMLS:C0348426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138093"}
is_a: MONDO:0016743 {source="MONDO:Redundant", source="NCIT:C4957"} ! tumor of meninges
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster

[Term]
id: MONDO:0021528
name: benign neoplasm of male breast
def: "A non-metastasizing neoplasm that arises from the breast parenchyma in males." [NCIT:C4620]
synonym: "benign Male breast neoplasm" EXACT [NCIT:C4620]
synonym: "benign Male breast tumor" EXACT [NCIT:C4620]
synonym: "benign Male breast tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the Male breast" EXACT [NCIT:C4620]
synonym: "benign tumor of Male breast" EXACT [NCIT:C4620]
synonym: "benign tumor of the Male breast" EXACT [NCIT:C4620]
synonym: "benign tumour of Male breast" EXACT OMO:0003005 []
synonym: "benign tumour of the Male breast" EXACT OMO:0003005 []
synonym: "male breast benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:83867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4620 {source="MONDO:equivalentTo"}
xref: SCTID:92206006 {source="MONDO:equivalentTo"}
xref: UMLS:C0347482 {source="MEDGEN:83867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000620 {source="MONDO:Redundant", source="NCIT:C4620"} ! breast benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0016410 ! male breast

[Term]
id: MONDO:0021529
name: benign neoplasm of chest wall
def: "A benign neoplasm that involves the chest wall." [MONDO:patterns/location]
synonym: "benign chest wall neoplasm" EXACT [NCIT:C8529]
synonym: "benign chest wall tumor" EXACT [NCIT:C8529]
synonym: "benign chest wall tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of the chest wall" EXACT [NCIT:C8529]
synonym: "benign tumor of chest wall" EXACT [NCIT:C8529]
synonym: "benign tumor of the chest wall" EXACT [NCIT:C8529]
synonym: "benign tumour of chest wall" EXACT OMO:0003005 []
synonym: "benign tumour of the chest wall" EXACT OMO:0003005 []
synonym: "chest wall benign neoplasm" EXACT [MONDO:patterns/location]
xref: ICD9:229.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:195776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8529 {source="MONDO:equivalentTo"}
xref: SCTID:92058007 {source="MONDO:equivalentTo"}
xref: UMLS:C0684831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195776"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C8529"} ! thoracic benign neoplasm
is_a: MONDO:0021388 {source="MONDO:Redundant", source="NCIT:C8529"} ! neoplasm of chest wall
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0016435 ! chest wall

[Term]
id: MONDO:0021530
name: benign neoplasm of subglottis
def: "A benign neoplasm that involves the subglottis." [MONDO:patterns/location]
synonym: "benign neoplasm of the subglottis" EXACT [NCIT:C4427]
synonym: "benign subglottic neoplasm" EXACT [NCIT:C4427]
synonym: "benign subglottic tumor" EXACT [NCIT:C4427]
synonym: "benign subglottic tumour" EXACT OMO:0003005 []
synonym: "benign subglottis neoplasm" EXACT [NCIT:C4427]
synonym: "benign subglottis tumor" EXACT [NCIT:C4427]
synonym: "benign subglottis tumour" EXACT OMO:0003005 []
synonym: "benign tumor of subglottis" EXACT [NCIT:C4427]
synonym: "benign tumor of the subglottis" EXACT [NCIT:C4427]
synonym: "benign tumour of subglottis" EXACT OMO:0003005 []
synonym: "benign tumour of the subglottis" EXACT OMO:0003005 []
synonym: "subglottis benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:83388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4427 {source="MONDO:equivalentTo"}
xref: SCTID:92412003 {source="MONDO:equivalentTo"}
xref: UMLS:C0345749 {source="MEDGEN:83388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000933 {source="MONDO:Redundant", source="NCIT:C4427"} ! subglottis neoplasm
is_a: MONDO:0002354 {source="MONDO:Redundant", source="NCIT:C4427"} ! benign laryngeal neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0036068 ! subglottis

[Term]
id: MONDO:0021531
name: fibroma of lung
def: "A fibroma that involves the lung." [MONDO:patterns/location]
synonym: "fibroma of the lung" EXACT [NCIT:C5658]
synonym: "lung fibroma" EXACT [MONDO:patterns/location, NCIT:C5658]
synonym: "pulmonary fibroma" EXACT [NCIT:C5658]
xref: MEDGEN:272803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5658 {source="MONDO:equivalentTo"}
xref: SCTID:707387004 {source="MONDO:equivalentTo"}
xref: UMLS:C1334444 {source="MEDGEN:272803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005167 {source="MONDO:Redundant", source="NCIT:C5658"} ! fibroma
intersection_of: MONDO:0005167 ! fibroma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0021532
name: fibroma of prostate
def: "A fibroma that involves the prostate gland." [MONDO:patterns/location]
synonym: "fibroma of the prostate" EXACT [NCIT:C3972]
synonym: "prostate fibroma" EXACT [NCIT:C3972]
synonym: "prostate gland fibroma" EXACT [MONDO:patterns/location]
xref: ICD9:600.20 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3972 {source="MONDO:equivalentTo"}
xref: SCTID:47014000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75709"}
is_a: MONDO:0005167 {source="MONDO:Redundant", source="NCIT:C3972"} ! fibroma
is_a: MONDO:0021510 {source="NCIT:C3972"} ! benign neoplasm of prostate
intersection_of: MONDO:0005167 ! fibroma
intersection_of: disease_has_location UBERON:0002367 ! prostate gland

[Term]
id: MONDO:0021533
name: intestinal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4637]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid tumor of intestine" EXACT [NCIT:C4637]
synonym: "carcinoid tumor of the intestine" EXACT [NCIT:C4637]
synonym: "carcinoid tumour of intestine" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the intestine" EXACT OMO:0003005 []
synonym: "grade 1 neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "intestinal carcinoid tumor" EXACT [NCIT:C4637]
synonym: "intestinal carcinoid tumour" EXACT OMO:0003005 []
synonym: "intestinal NET G1" EXACT [NCIT:C4637]
synonym: "intestinal neuroendocrine tumor G1" EXACT [NCIT:C4637]
synonym: "intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4637]
synonym: "intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "intestine carcinoid tumour" EXACT OMO:0003005 []
synonym: "intestine carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "intestine neuroendocrine neoplasm G1" EXACT []
synonym: "intestine neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: MEDGEN:138099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562842 {source="MONDO:equivalentTo"}
xref: NCIT:C4637 {source="MONDO:equivalentTo"}
xref: OMIM:114900 {source="MONDO:equivalentTo"}
xref: SCTID:276816003 {source="MONDO:equivalentTo"}
xref: UMLS:C0349535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138099"}
is_a: MONDO:0002883 {source="MONDO:Redundant", source="NCIT:C4637/inferred"} ! intestinal neuroendocrine neoplasm
is_a: MONDO:0005369 {source="NCIT:C4637/inferred"} ! carcinoid tumor
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000160 ! intestine
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:114900", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4207" xsd:anyURI

[Term]
id: MONDO:0021534
name: rectal neuroendocrine tumor G1
def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5547]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoid of rectum" EXACT [NCIT:C5547]
synonym: "carcinoid of the rectum" EXACT [NCIT:C5547]
synonym: "carcinoid tumor of rectum" EXACT [NCIT:C5547]
synonym: "carcinoid tumor of the rectum" EXACT [NCIT:C5547]
synonym: "carcinoid tumour of rectum" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the rectum" EXACT OMO:0003005 []
synonym: "grade 1 neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "rectal carcinoid" EXACT [NCIT:C5547]
synonym: "rectal carcinoid tumor" EXACT [NCIT:C5547]
synonym: "rectal carcinoid tumour" EXACT OMO:0003005 []
synonym: "rectal NET G1" EXACT [NCIT:C5547]
synonym: "rectal neuroendocrine tumor G1" EXACT [NCIT:C5547]
synonym: "rectum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "rectum carcinoid tumor (disease)" EXACT [MONDO:patterns/location]
synonym: "rectum carcinoid tumour" EXACT OMO:0003005 []
synonym: "rectum carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "rectum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "rectum neuroendocrine neoplasm G1" EXACT []
synonym: "rectum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
xref: MEDGEN:233389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5547 {source="MONDO:equivalentTo"}
xref: SCTID:713306000 {source="MONDO:equivalentTo"}
xref: UMLS:C1335678 {source="MEDGEN:233389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006162 {source="MONDO:Redundant", source="NCIT:C5547"} ! colorectal neuroendocrine tumor G1
is_a: MONDO:0015068 {source="MONDO:Redundant", source="NCIT:C5547"} ! neuroendocrine tumor of rectum, well differentiated, low or intermediate grade
is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C5547/inferred"} ! intestinal neuroendocrine tumor G1
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001052 ! rectum
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0021535
name: pancreatic neuroendocrine tumor G1
def: "A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%." [NCIT:C95584]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "grade 1 neuroendocrine neoplasm of pancreas" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreas carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreas carcinoid tumour" EXACT OMO:0003005 []
synonym: "pancreas NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreas neuroendocrine neoplasm G1" EXACT []
synonym: "pancreas neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1]
synonym: "pancreatic NET G1" EXACT [NCIT:C95584]
synonym: "pancreatic neuroendocrine tumor G1" EXACT [NCIT:C95584]
xref: MEDGEN:459467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95584 {source="MONDO:equivalentTo"}
xref: SCTID:254613007 {source="MONDO:equivalentTo"}
xref: UMLS:C2987241 {source="MEDGEN:459467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005369 ! carcinoid tumor
is_a: MONDO:0019954 {source="NCIT:C95584"} ! pancreatic neuroendocrine tumor
is_a: MONDO:0021040 {source="MONDO:Redundant", source="NCIT:C4446/inferred", source="NCIT:C95584/inferred"} ! pancreatic neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001264 ! pancreas
intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system

[Term]
id: MONDO:0021537
name: undifferentiated carcinoma of nasopharynx
def: "A undifferentiated carcinoma that involves the nasopharynx." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoepithelioma of nasopharynx" EXACT [NCIT:C8023]
synonym: "lymphoepithelioma of the nasopharynx" EXACT [NCIT:C8023]
synonym: "nasopharyngeal lymphoepithelioma" EXACT [NCIT:C8023]
synonym: "nasopharyngeal nonkeratinizing undifferentiated carcinoma" EXACT [NCIT:C8023]
synonym: "nasopharyngeal undifferentiated carcinoma" EXACT [NCIT:C8023]
synonym: "nasopharynx undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "undifferentiated carcinoma of the nasopharynx" EXACT [NCIT:C8023]
synonym: "undifferentiated nasopharyngeal throat cancer" EXACT [NCIT:C8023]
xref: MEDGEN:124650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8023 {source="MONDO:equivalentTo"}
xref: SCTID:422541001 {source="MONDO:equivalentTo"}
xref: UMLS:C0279748 {source="MEDGEN:124650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015459 {source="MONDO:Redundant", source="NCIT:C8023/inferred"} ! nasopharyngeal carcinoma
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0001728 ! nasopharynx

[Term]
id: MONDO:0021538
name: verrucous carcinoma of oral cavity
def: "A verrucous carcinoma that involves the oral cavity." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mouth verrucous carcinoma" EXACT [NCIT:C8174]
synonym: "oral cavity verrucous cancer" EXACT [NCIT:C8174]
synonym: "oral cavity verrucous carcinoma" EXACT [MONDO:patterns/location, NCIT:C8174]
synonym: "verrucous carcinoma of mouth" EXACT [NCIT:C8174]
synonym: "verrucous carcinoma of the mouth" EXACT [NCIT:C8174]
synonym: "verrucous carcinoma of the oral cavity" EXACT [NCIT:C8174]
xref: MEDGEN:124716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8174 {source="MONDO:equivalentTo"}
xref: SCTID:403889000 {source="MONDO:equivalentTo"}
xref: UMLS:C0280306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124716"}
is_a: MONDO:0004958 {source="MONDO:Redundant", source="NCIT:C8174"} ! oral cavity squamous cell carcinoma
is_a: MONDO:0006006 {source="MONDO:Redundant", source="NCIT:C8174"} ! verrucous carcinoma
intersection_of: MONDO:0006006 ! verrucous carcinoma
intersection_of: disease_has_location UBERON:0000167 ! oral cavity

[Term]
id: MONDO:0021539
name: hamartoma of skin appendage
def: "A hamartoma (disease) that involves the cutaneous appendage." [MONDO:patterns/location]
synonym: "cutaneous appendage hamartoma (disease)" EXACT [MONDO:patterns/location]
synonym: "skin appendage hamartoma" EXACT [NCIT:C5562]
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:224909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5562 {source="MONDO:equivalentTo"}
xref: SCTID:399906000 {source="MONDO:equivalentTo"}
xref: UMLS:C1302712 {source="MEDGEN:224909", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="MONDO:Redundant", source="NCIT:C5562"} ! hamartoma
intersection_of: MONDO:0006499 ! hamartoma
intersection_of: disease_has_location UBERON:0000021 ! cutaneous appendage

[Term]
id: MONDO:0021540
name: hamartoma of lung
def: "A hamartoma (disease) that involves the lung." [MONDO:patterns/location]
synonym: "hamartoma of the lung" EXACT [NCIT:C3497]
synonym: "lung chondroid hamartoma" EXACT [NCIT:C3497]
synonym: "lung hamartoma" EXACT [NCIT:C3497]
synonym: "lung hamartoma (disease)" EXACT [MONDO:patterns/location]
synonym: "pulmonary hamartoma" EXACT [NCIT:C3497]
xref: ICD9:235.7 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:101774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3497 {source="MONDO:equivalentTo"}
xref: SCTID:254644003 {source="MONDO:equivalentTo"}
xref: UMLS:C0149927 {source="MEDGEN:101774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="MONDO:Redundant", source="NCIT:C3497/inferred"} ! hamartoma
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C3497/inferred"} ! lung neoplasm
intersection_of: MONDO:0006499 ! hamartoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0021541
name: hemangioma of retina
def: "A hemangioma that involves the retina." [MONDO:patterns/location]
synonym: "angioma of retina" EXACT [NCIT:C3634]
synonym: "angioma of the retina" EXACT [NCIT:C3634]
synonym: "hemangioma of the retina" EXACT [NCIT:C3634]
synonym: "retina angioma" EXACT [NCIT:C3634]
synonym: "retina hemangioma" EXACT [MONDO:patterns/location, NCIT:C3634]
synonym: "retinal angioma" EXACT [NCIT:C3634]
synonym: "retinal hemangioma" EXACT [NCIT:C3634]
xref: ICD9:228.03 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3634 {source="MONDO:equivalentTo"}
xref: SCTID:93470007 {source="MONDO:equivalentTo"}
xref: UMLS:C0154051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102307"}
is_a: MONDO:0006500 {source="MONDO:Redundant", source="NCIT:C3634"} ! hemangioma
is_a: MONDO:0021453 {source="MONDO:Redundant", source="NCIT:C3634"} ! benign neoplasm of retina
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0021542
name: hemangioma of choroid
def: "A hemangioma that involves the optic choroid." [MONDO:patterns/location]
synonym: "angioma of choroid" EXACT [NCIT:C4562]
synonym: "angioma of the choroid" EXACT [NCIT:C4562]
synonym: "benign angioma of choroid" EXACT [NCIT:C4562]
synonym: "benign angioma of the choroid" EXACT [NCIT:C4562]
synonym: "benign choroid angioma" EXACT [NCIT:C4562]
synonym: "benign choroid hemangioma" EXACT [NCIT:C4562]
synonym: "benign hemangioma of choroid" EXACT [NCIT:C4562]
synonym: "benign hemangioma of the choroid" EXACT [NCIT:C4562]
synonym: "choroid angioma" EXACT [NCIT:C4562]
synonym: "choroid hemangioma" EXACT [NCIT:C4562]
synonym: "hemangioma of optic choroid" EXACT [MONDO:design_pattern]
synonym: "hemangioma of the choroid" EXACT [NCIT:C4562]
synonym: "hemangioma, choroid, benign" EXACT [NCIT:C4562]
synonym: "optic choroid hemangioma" EXACT [MONDO:patterns/location]
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:83424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4562 {source="MONDO:equivalentTo"}
xref: SCTID:255022003 {source="MONDO:equivalentTo"}
xref: UMLS:C0346390 {source="MEDGEN:83424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="MONDO:Redundant", source="NCIT:C4562"} ! hemangioma
is_a: MONDO:0021487 {source="MONDO:Redundant", source="NCIT:C4562"} ! benign neoplasm of choroid
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0001776 ! optic choroid

[Term]
id: MONDO:0021543
name: hemangioma of gingiva
def: "A hemangioma that involves the gingiva." [MONDO:patterns/location]
synonym: "angioma of gingiva" EXACT [NCIT:C4831]
synonym: "angioma of gum" EXACT [NCIT:C4831]
synonym: "angioma of the gingiva" EXACT [NCIT:C4831]
synonym: "angioma of the gum" EXACT [NCIT:C4831]
synonym: "gingiva hemangioma" EXACT [MONDO:patterns/location]
synonym: "gingival angioma" EXACT [NCIT:C4831]
synonym: "gingival hemangioma" EXACT [NCIT:C4831]
synonym: "gum angioma" EXACT [NCIT:C4831]
synonym: "gum hemangioma" EXACT [NCIT:C4831]
synonym: "hemangioma of gum" EXACT [NCIT:C4831]
synonym: "hemangioma of the gingiva" EXACT [NCIT:C4831]
synonym: "hemangioma of the gum" EXACT [NCIT:C4831]
xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:108426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4831 {source="MONDO:equivalentTo"}
xref: SCTID:304990002 {source="MONDO:equivalentTo"}
xref: UMLS:C0582885 {source="MEDGEN:108426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="MONDO:Redundant", source="NCIT:C4831"} ! hemangioma
is_a: MONDO:0021491 {source="MONDO:Redundant", source="NCIT:C4831"} ! benign neoplasm of gum
intersection_of: MONDO:0006500 ! hemangioma
intersection_of: disease_has_location UBERON:0001828 ! gingiva

[Term]
id: MONDO:0021545
name: myomatous neoplasm
def: "A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle." [NCIT:C4063]
subset: otar {source="MONDO:OTAR"}
synonym: "muscle neoplasm" EXACT [NCIT:C4063]
synonym: "muscle tissue neoplasm" RELATED [MESH:D009379]
synonym: "muscle tissue neoplasms" RELATED [MESH:D009379]
synonym: "muscle tumor" EXACT [NCIT:C4063]
synonym: "muscle tumour" EXACT OMO:0003005 []
synonym: "myoblastoma" RELATED [MESH:D009379]
synonym: "myoblastomas" RELATED [MESH:D009379]
synonym: "myofibroblastoma" RELATED [MESH:D009379]
synonym: "myofibroblastomas" RELATED [MESH:D009379]
synonym: "myomatous neoplasm" EXACT [NCIT:C4063]
synonym: "myomatous tumor" EXACT [NCIT:C4063]
synonym: "myomatous tumour" EXACT OMO:0003005 []
synonym: "neoplasm of muscle" EXACT [NCIT:C4063]
synonym: "neoplasm of the muscle" EXACT [NCIT:C4063]
synonym: "neoplasm, muscle tissue" RELATED [MESH:D009379]
synonym: "tumor of muscle" EXACT [NCIT:C4063]
synonym: "tumor of the muscle" EXACT [NCIT:C4063]
synonym: "tumour of muscle" EXACT OMO:0003005 []
synonym: "tumour of the muscle" EXACT OMO:0003005 []
xref: MEDGEN:76477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009379 {source="MONDO:equivalentTo"}
xref: MESH:D019042 {source="MONDO:equivalentTo"}
xref: NCIT:C4063 {source="MONDO:equivalentTo"}
xref: UMLS:C0282606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76477"}
is_a: MONDO:0002616 {source="NCIT:C4063"} ! mesenchymal cell neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000187 ! muscle cell
relationship: disease_has_location UBERON:0002385 ! muscle tissue

[Term]
id: MONDO:0021546
name: ependymal tumor of spinal cord
def: "An ependymal tumor that arises from the spinal cord." [NCIT:C131526]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ependymal tumor of spinal cord" EXACT [NCIT:C131526]
synonym: "spinal cord ependymal tumor" EXACT [MONDO:patterns/location]
synonym: "spinal cord ependymal tumour" EXACT OMO:0003005 []
xref: MEDGEN:1389203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131526 {source="MONDO:equivalentTo"}
xref: UMLS:C4318747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1389203"}
is_a: MONDO:0002542 {source="NCIT:C131526"} ! spinal cord glioma
is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C131526"} ! ependymal tumor
intersection_of: MONDO:0003266 ! ependymal tumor
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0021547
name: amelogenesis imperfecta type 3B
subset: gard_rare {source="GARD:18258", source="MONDO:GARD"}
subset: rare
synonym: "AI3B" EXACT ABBREVIATION [OMIM:617607]
synonym: "amelogenesis imperfecta, type 3B" EXACT [OMIM:617607]
synonym: "amelogenesis imperfecta, type IIIB" EXACT [OMIM:617607]
xref: DOID:0080243 {source="MONDO:equivalentTo"}
xref: GARD:18258 {source="MONDO:GARD"}
xref: MEDGEN:1621302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617607 {source="DOID:0080243", source="MONDO:equivalentTo"}
xref: Orphanet:100032 {source="OMIM:617607"}
xref: UMLS:C4539891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621302"}
is_a: MONDO:0019507 {source="DOID:0080243", source="MONDO:Redundant", source="OMIM:617607"} ! amelogenesis imperfecta
is_a: MONDO:0968955 {source="https://orcid.org/0000-0001-5493-2602"} ! hypocalcified amelogenesis imperfecta

[Term]
id: MONDO:0021548
name: total early-onset cataract
subset: gard_rare {source="GARD:1159", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:98994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cataract, total congenital" RELATED [GARD:0001159]
synonym: "cataract, total congenital with posterior sutural opacities in heterozygotes" RELATED [GARD:0001159]
synonym: "CCT" RELATED ABBREVIATION [GARD:0001159]
xref: GARD:1159 {source="MONDO:GARD"}
xref: ICD10CM:Q12.0 {source="Orphanet:98994", source="Orphanet:98994/attributed", source="Orphanet:98994/ntbt"}
xref: MEDGEN:75616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535341 {source="Orphanet:98994", source="Orphanet:98994/e"}
xref: Orphanet:91492 {source="OMIM:116700"}
xref: Orphanet:98994 {source="MONDO:equivalentTo"}
xref: UMLS:C0266539 {source="MONDO:equivalentTo", source="MEDGEN:75616", source="MONDO:MEDGEN"}
is_a: MONDO:0011060 {source="Orphanet:98994"} ! early-onset non-syndromic cataract

[Term]
id: MONDO:0021553
name: transverse myelitis
subset: otar {source="MONDO:OTAR"}
synonym: "Myelitis, Transverse" RELATED [MESH:D009188]
synonym: "Transverse Myelitis" RELATED [MESH:D009188]
synonym: "Transverse myelitis" RELATED [UMLS:C0026976]
synonym: "transverse myelitis" EXACT []
synonym: "Transverse Myelopathy Syndrome" RELATED [MESH:D009188]
synonym: "Transverse myelopathy syndrome" RELATED [UMLS:C0026976]
synonym: "transverse myelopathy syndrome" EXACT []
synonym: "Transverse Myelopathy Syndromes" RELATED [MESH:D009188]
xref: DOID:0080743 {source="MONDO:equivalentTo"}
xref: ICD9:323.9
xref: MedDRA:10028527
xref: MEDGEN:6488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009188 {source="UMLS:C0026976"}
xref: SCTID:16631009 {source="MONDO:equivalentTo", source="UMLS:C0026976"}
xref: UMLS:C0026976 {source="MEDGEN:6488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002565 {source="https://orcid.org/0000-0001-5208-3432"} ! myelitis
relationship: has_characteristic MONDO:0021136 {source="GARD:0007796"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4614" xsd:anyURI

[Term]
id: MONDO:0021559
name: non-autoimmune hemolytic anemia
def: "Hemolytic anemia that is not mediated by immune mechanisms." [NCIT:C34853]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Non-Autoimmune Hemolytic Anaemia" RELATED OMO:0003005 []
synonym: "Non-autoimmune hemolytic anaemia" RELATED OMO:0003005 []
synonym: "Non-Autoimmune Hemolytic Anemia" RELATED [NCIT:C34853]
synonym: "Non-autoimmune hemolytic anemia" RELATED [UMLS:C0028283]
synonym: "non-autoimmune hemolytic anemia" EXACT [NCIT:C34853]
xref: EFO:0005558 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:283.10
xref: ICD9:283.19
xref: MEDGEN:45122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34853 {source="MONDO:equivalentTo", source="UMLS:C0028283"}
xref: SCTID:191216004 {source="MONDO:equivalentTo", source="UMLS:C0028283"}
xref: UMLS:C0028283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45122"}
is_a: MONDO:0003664 {source="NCIT:C34853"} ! hemolytic anemia
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015911"} ! rare

[Term]
id: MONDO:0021562
name: omphalitis
def: "Inflammation of the umbilical cord stump in newborns." [NCIT:C116008]
synonym: "Omphalitis" RELATED [GTR:AN0533760, NCIT:C116008]
synonym: "omphalitis" EXACT [NCIT:C116008]
xref: GTR:AN0533760 {source="UMLS:C0028992"}
xref: ICD10CM:P35-P39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:508000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116008 {source="UMLS:C0028992", source="MONDO:equivalentTo"}
xref: SCTID:239095007 {source="UMLS:C0028992", source="MONDO:equivalentTo"}
xref: UMLS:C0028992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508000"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_inflammation_site UBERON:0002331 ! umbilical cord

[Term]
id: MONDO:0021568
name: renal tubule disorder
def: "A disease that involves the renal tubule." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of renal tubule" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of renal tubule" EXACT []
synonym: "disorder of renal tubule" EXACT [MONDO:patterns/location_top]
synonym: "renal tubular disease" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "renal tubular disorder" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "renal tubule disease" EXACT [MONDO:patterns/location]
synonym: "renal tubule disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:0009566 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95568003 {source="MONDO:equivalentTo"}
xref: UMLS:C0151747 {source="MEDGEN:57484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 ! kidney disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0009773 ! renal tubule

[Term]
id: MONDO:0021569
name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
def: "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." [NCIT:C126745]
subset: gard_rare {source="GARD:10230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [OMIM:159001]
synonym: "benign scapuloperoneal muscular dystrophy with cardiomyopathy" RELATED [PMID:12376891]
synonym: "EDMD2" EXACT ABBREVIATION [OMIM:181350]
synonym: "EMD2" RELATED ABBREVIATION [OMIM:181350]
synonym: "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:181350]
synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" RELATED [OMIM:181350]
synonym: "Hauptmann-Thannhauser muscular dystrophy" EXACT [OMIM:181350]
synonym: "LGMD1B" EXACT ABBREVIATION [DOID:0110301, GARD:0010230, MONDO:Lexical, OMIM:159001, Orphanet:264]
synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT [DOID:0110301, Orphanet:264]
synonym: "limb-girdle muscular dystrophy type 1B" RELATED [GARD:0010230]
synonym: "LMNA autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" RELATED [OMIM:181350]
synonym: "muscular dystrophy, limb-girdle type 1B" EXACT [DOID:0110301]
synonym: "muscular dystrophy, limb-girdle, type 1B" RELATED [MONDO:Lexical, OMIM:159001]
synonym: "muscular dystrophy, proximal, type 1B" RELATED [GARD:0010230, OMIM:159001]
synonym: "proximal muscular dystrophy type 1B" EXACT [DOID:0110301]
synonym: "scapuloilioperoneal atrophy with cardiopathy" RELATED [OMIM:181350]
xref: DOID:0070247 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:0110301 {source="MONDO:equivalentObsolete"}
xref: GARD:10230 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:264/inclusion", source="Orphanet:264/ntbt", source="Orphanet:264", source="DOID:0110301"}
xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535898 {source="MONDO:equivalentTo"}
xref: NCIT:C126745 {source="MONDO:equivalentTo"}
xref: OMIM:159001 {source="GARD:0010230", source="Orphanet:264/e", source="MONDO:equivalentObsolete", source="Orphanet:264", source="DOID:0110301"}
xref: OMIM:181350 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:261 {source="OMIM:181350"}
xref: Orphanet:264 {source="GARD:0010230", source="OMIM:159001", source="MONDO:equivalentObsolete", source="DOID:0110301"}
xref: Orphanet:98853 {source="OMIM:181350", source="MONDO:directSiblingOf"}
xref: SCTID:240072005 {source="MONDO:equivalentTo"}
xref: SCTID:718178006 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0410190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98048"}
is_a: MONDO:0015151 {source="DOID:0110301", source="MONDO:Redundant", source="OMIM:159001", source="Orphanet:264"} ! muscular dystrophy, limb-girdle, autosomal dominant
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:0016830 {source="MONDO:Redundant", source="NCIT:C126745", source="OMIM:181350"} ! Emery-Dreifuss muscular dystrophy
is_a: MONDO:0019056 ! neuromuscular disease
is_a: MONDO:0020121 {source="PMID:12376891"} ! muscular dystrophy
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
intersection_of: MONDO:0015151 ! muscular dystrophy, limb-girdle, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 ! LMNA
relationship: disease_shares_features_of MONDO:0010680 {source="PMID:12376891"} ! X-linked Emery-Dreifuss muscular dystrophy
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b" xsd:anyURI {source="GARD:0010230"}

[Term]
id: MONDO:0021570
name: obsolete Hauptmann-Thannhauser muscular dystrophy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/55" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021569

[Term]
id: MONDO:0021571
name: multiple sclerosis, susceptibility to 1
subset: predisposition
synonym: "disseminated sclerosis" RELATED [OMIM:126200]
synonym: "MS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:126200]
synonym: "MS1" EXACT ABBREVIATION []
synonym: "multiple sclerosis, disease progression, modifier of" EXACT [OMIM:126200, OMIM:genemap2]
synonym: "multiple sclerosis, susceptibility to" RELATED [MONDO:Lexical, OMIM:126200]
synonym: "multiple sclerosis, susceptibility to, 1" EXACT [OMIM:126200]
synonym: "susceptibility to multiple sclerosis" RELATED [OMIM:126200]
xref: MEDGEN:854774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:126200 {source="MONDO:equivalentTo"}
xref: UMLS:C3888106 {source="MEDGEN:854774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007462 {source="OMIM:126200"} ! multiple sclerosis, susceptibility to
relationship: predisposes_towards MONDO:0005301 ! multiple sclerosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0021573
name: oocyte maturation defect 2
def: "Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18496", source="MONDO:GARD"}
subset: rare
synonym: "inherited oocyte maturation defect caused by mutation in TUBB8" EXACT [MONDO:design_pattern]
synonym: "oocyte maturation defect 2" EXACT [MONDO:Lexical, OMIM:616780]
synonym: "OOMD2" EXACT ABBREVIATION [OMIM:616780]
synonym: "TUBB8 inherited oocyte maturation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18496 {source="MONDO:GARD"}
xref: MEDGEN:903836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616780 {source="MONDO:equivalentTo"}
xref: Orphanet:488191 {source="MONDO:relatedTo", source="OMIM:616780"}
xref: UMLS:C4225210 {source="MEDGEN:903836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014769 {source="MONDO:Redundant", source="OMIM:616780"} ! inherited oocyte maturation defect
intersection_of: MONDO:0014769 ! inherited oocyte maturation defect
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20773 ! TUBB8
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20773 {source="MONDO:mim2gene_medgen"} ! TUBB8

[Term]
id: MONDO:0021574
name: oocyte maturation defect 3
synonym: "oocyte maturation defect 3" EXACT [MONDO:Lexical, OMIM:617712]
synonym: "OOMD3" EXACT ABBREVIATION [OMIM:617712]
xref: MEDGEN:1617317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617712 {source="MONDO:equivalentTo"}
xref: Orphanet:404466 {source="OMIM:617712", source="MONDO:directSiblingOf"}
xref: UMLS:C4540205 {source="MEDGEN:1617317", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014769 {source="OMIM:617712"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0021575
name: oocyte maturation defect 4
subset: gard_rare {source="GARD:18497", source="MONDO:GARD"}
subset: rare
synonym: "oocyte maturation defect 4" EXACT [MONDO:Lexical, OMIM:617743]
synonym: "OOMD4" EXACT ABBREVIATION [OMIM:617743]
xref: GARD:18497 {source="MONDO:GARD"}
xref: MEDGEN:1616340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617743 {source="MONDO:equivalentTo"}
xref: Orphanet:488191 {source="OMIM:617743", source="MONDO:relatedTo"}
xref: UMLS:C4540284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616340"}
is_a: MONDO:0014769 {source="OMIM:617743"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0021576
name: fallopian tube endometrioid tumor
def: "A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:C40111]
synonym: "endometrium neoplasm of fallopian tube" EXACT [MONDO:design_pattern]
synonym: "fallopian tube endometrioid neoplasm" EXACT [NCIT:C40111]
synonym: "fallopian tube endometrioid tumor" EXACT [NCIT:C40111]
synonym: "fallopian tube endometrium neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:274486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40111 {source="MONDO:equivalentTo"}
xref: UMLS:C1517113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274486"}
is_a: MONDO:0021092 {source="MONDO:Redundant", source="NCIT:C40111"} ! fallopian tube neoplasm
intersection_of: MONDO:0021251 ! endometrium neoplasm
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0021577
name: malignant mediastinal neural neoplasm
synonym: "malignant neuroma of mediastinum" EXACT []
xref: MEDGEN:578863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:278044006 {source="MONDO:equivalentTo"}
xref: UMLS:C0349665 {source="MEDGEN:578863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003098 {source="https://orcid.org/0000-0001-5208-3432"} ! mediastinal neural neoplasm
is_a: MONDO:0005843 {source="MONDO:Entailed"} ! mediastinal cancer

[Term]
id: MONDO:0021578
name: sternal neoplasm
def: "A benign or malignant neoplasm that affects the sternum." [NCIT:C6730]
synonym: "neoplasm of sternum" EXACT [MONDO:patterns/neoplasm, NCIT:C6730]
synonym: "neoplasm of sternum (disease)" EXACT []
synonym: "neoplasm of sternum (disorder)" EXACT []
synonym: "neoplasm of the sternum" EXACT [NCIT:C6730]
synonym: "sternal neoplasm" EXACT [NCIT:C6730]
synonym: "sternal tumor" EXACT [NCIT:C6730]
synonym: "sternal tumour" EXACT OMO:0003005 []
synonym: "sternum neoplasm" EXACT []
synonym: "sternum neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "sternum tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "sternum tumour" EXACT OMO:0003005 []
synonym: "tumor of sternum" EXACT [MONDO:patterns/neoplasm, NCIT:C6730]
synonym: "tumor of the sternum" EXACT [NCIT:C6730]
synonym: "tumour of sternum" EXACT OMO:0003005 []
synonym: "tumour of the sternum" EXACT OMO:0003005 []
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:226935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6730 {source="MONDO:equivalentTo"}
xref: SCTID:126559003 {source="MONDO:equivalentTo"}
xref: UMLS:C1290244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226935"}
is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C6730"} ! neoplasm of thorax
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000975 ! sternum

[Term]
id: MONDO:0021579
name: neoplasm of femur
def: "A neoplasm (disease) that involves the femur." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "femur neoplasm" EXACT []
synonym: "femur neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "femur tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "femur tumour" EXACT OMO:0003005 []
synonym: "neoplasm of femur" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of femur" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of femur" EXACT OMO:0003005 []
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:8809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:126583006 {source="MONDO:equivalentTo"}
xref: UMLS:C0015807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8809"}
is_a: MONDO:0005381 {source="MONDO:Redundant"} ! bone disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000981 ! femur

[Term]
id: MONDO:0021580
name: neoplasm of jaw
def: "A neoplasm (disease) that involves the jaw skeleton." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "jaw skeleton neoplasm" EXACT []
synonym: "jaw skeleton neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "jaw skeleton tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "jaw skeleton tumour" EXACT OMO:0003005 []
synonym: "neoplasm of jaw skeleton" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of jaw skeleton" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of jaw skeleton" EXACT OMO:0003005 []
xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:43991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:126634001 {source="MONDO:equivalentTo"}
xref: UMLS:C0022364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43991"}
is_a: MONDO:0005586 {source="MONDO:Entailed"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001708 ! jaw skeleton

[Term]
id: MONDO:0021581
name: connective tissue neoplasm
def: "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." [MESH:D009372]
subset: otar {source="MONDO:OTAR"}
synonym: "connective tissue neoplasm" EXACT [MESH:D009372]
synonym: "connective tissue neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "connective tissue neoplasms" RELATED [MESH:D009372]
synonym: "connective tissue tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "connective tissue tumour" EXACT OMO:0003005 []
synonym: "neoplasm of connective tissue" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of connective tissues" EXACT [DOID:201]
synonym: "neoplasm, connective tissue" RELATED [MESH:D009372]
synonym: "tumor of connective tissue" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/neoplasm]
synonym: "tumour of connective tissue" EXACT OMO:0003005 []
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:45035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009372 {source="MONDO:equivalentTo"}
xref: SCTID:126598008 {source="MONDO:equivalentTo"}
xref: UMLS:C0027656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45035"}
is_a: MONDO:0003900 {source="MESH:D009372", source="MONDO:Redundant"} ! connective tissue disorder
is_a: MONDO:0005070 {source="MESH:D009372/inferred", source="MONDO:Redundant"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002384 ! connective tissue

[Term]
id: MONDO:0021582
name: lentigo
def: "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy." [NCIT:C3159]
comment: Excluded benign neoplasm as a subclass because NCIT classifies as non-neoplastic.
subset: otar {source="MONDO:OTAR"}
synonym: "lentigines" EXACT [OMIM:150900]
synonym: "lentiginosis" EXACT [NCIT:C3159]
synonym: "lentigo" EXACT [NCIT:C3159]
xref: MEDGEN:7301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007911 {source="MONDO:equivalentTo"}
xref: NCIT:C3159 {source="MONDO:equivalentTo"}
xref: OMIM:150900 {source="MONDO:equivalentTo"}
xref: SCTID:402624000 {source="MONDO:equivalentTo"}
xref: UMLS:C0023321 {source="MEDGEN:7301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:150900"} ! hereditary disease
relationship: disease_has_location UBERON:0000014 {source="NCIT:C3159"} ! zone of skin
relationship: excluded_subClassOf MONDO:0005165 {source="MONDO:Redundant", source="Wikipedia:Lentiginosis", source="https://orcid.org/0000-0001-5208-3432"} ! benign neoplasm
relationship: realized_in GO:0097325 {source="NCIT:C3159"} ! melanocyte proliferation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3692" xsd:anyURI

[Term]
id: MONDO:0021583
name: melanocytic skin neoplasm
def: "A melanocytic neoplasm that involves the zone of skin." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cutaneous melanocytic neoplasm" EXACT [NCIT:C7161]
synonym: "melanocytic neoplasm of skin" EXACT [NCIT:C7161]
synonym: "melanocytic neoplasm of zone of skin" EXACT [MONDO:design_pattern]
synonym: "melanocytic skin neoplasm" EXACT [NCIT:C7161]
synonym: "zone of skin melanocytic neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:138096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7161 {source="MONDO:equivalentTo"}
xref: UMLS:C0349501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138096"}
is_a: MONDO:0002531 {source="MONDO:Redundant", source="NCIT:C7161"} ! skin neoplasm
is_a: MONDO:0021143 {source="MONDO:Redundant", source="NCIT:C7161"} ! melanocytic neoplasm
intersection_of: MONDO:0021143 ! melanocytic neoplasm
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0021588
name: eyelid sebaceous gland carcinoma
def: "A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases." [NCIT:C134831]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658590"}
subset: orphanet_rare {source="Orphanet:658590"}
subset: rare
synonym: "carcinoma of sebaceous gland of eyelid" EXACT [MONDO:patterns/carcinoma]
synonym: "eyelid sebaceous gland carcinoma" EXACT [NCIT:C134831]
synonym: "eyelid SGC" EXACT [NCIT:C134831]
synonym: "sebaceous gland carcinoma of the eyelid" EXACT [NCIT:C134831]
synonym: "sebaceous gland of eyelid carcinoma" EXACT [MONDO:patterns/location]
xref: MEDGEN:1612781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C134831 {source="MONDO:equivalentTo"}
xref: Orphanet:658590 {source="MONDO:equivalentTo"}
xref: UMLS:C4525405 {source="MEDGEN:1612781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003876 {source="MONDO:Redundant", source="NCIT:C134831"} ! eyelid carcinoma
is_a: MONDO:0006327 {source="NCIT:C134831"} ! ocular sebaceous carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0013231 ! sebaceous gland of eyelid

[Term]
id: MONDO:0021605
name: benign eyelid neoplasm
def: "A non-metastasizing neoplasm that arises from the upper or lower eyelid." [NCIT:C4354]
subset: otar {source="MONDO:OTAR"}
synonym: "benign eyelid neoplasm" EXACT [NCIT:C4354]
synonym: "benign eyelid tumor" EXACT [NCIT:C4354]
synonym: "benign eyelid tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of eyelid" EXACT [NCIT:C4354]
synonym: "benign neoplasm of the eyelid" EXACT [NCIT:C4354]
synonym: "benign tumor of eyelid" EXACT [NCIT:C4354]
synonym: "benign tumor of the eyelid" EXACT [NCIT:C4354]
synonym: "benign tumour of eyelid" EXACT OMO:0003005 []
synonym: "benign tumour of the eyelid" EXACT OMO:0003005 []
synonym: "eyelid benign neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:137911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4354 {source="MONDO:equivalentTo"}
xref: SCTID:231824001 {source="MONDO:equivalentTo"}
xref: UMLS:C0339107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137911"}
is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C4354"} ! eyelid neoplasm
is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C4354"} ! benign neoplasm of eye
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0021607
name: eyelid seborrheic keratosis
def: "A seborrheic keratosis that involves the eyelid." [MONDO:patterns/location]
synonym: "basal cell papilloma of eyelid" EXACT [NCIT:C4356]
synonym: "basal cell papilloma of the eyelid" EXACT [NCIT:C4356]
synonym: "eyelid basal cell papilloma" EXACT [NCIT:C4356]
synonym: "eyelid seborrheic keratosis" EXACT [MONDO:patterns/location, NCIT:C4356]
synonym: "seborrheic keratosis of eyelid" EXACT [NCIT:C4356]
synonym: "seborrheic keratosis of the eyelid" EXACT [NCIT:C4356]
xref: MEDGEN:137912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4356 {source="MONDO:equivalentTo"}
xref: SCTID:231826004 {source="MONDO:equivalentTo"}
xref: UMLS:C0339109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137912"}
is_a: MONDO:0008420 {source="MONDO:Redundant", source="NCIT:C4356"} ! seborrheic keratosis
intersection_of: MONDO:0008420 ! seborrheic keratosis
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0021627
name: eyelid capillary hemangioma
def: "A capillary hemangioma arising from the eyelid." [NCIT:C4357]
synonym: "capillary angioma of eyelid" EXACT [NCIT:C4357]
synonym: "capillary angioma of lid" EXACT [NCIT:C4357]
synonym: "capillary angioma of the eyelid" EXACT [NCIT:C4357]
synonym: "capillary angioma of the lid" EXACT [NCIT:C4357]
synonym: "capillary hemangioma of eyelid" EXACT [NCIT:C4357]
synonym: "capillary hemangioma of lid" EXACT [NCIT:C4357]
synonym: "capillary hemangioma of the eyelid" EXACT [NCIT:C4357]
synonym: "capillary hemangioma of the lid" EXACT [NCIT:C4357]
synonym: "eyelid capillary angioma" EXACT [NCIT:C4357]
synonym: "eyelid capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C4357]
xref: MEDGEN:87379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4357 {source="MONDO:equivalentTo"}
xref: SCTID:231828003 {source="MONDO:equivalentTo"}
xref: UMLS:C0339110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87379"}
is_a: MONDO:0002407 {source="MONDO:Redundant", source="NCIT:C4357"} ! capillary hemangioma
is_a: MONDO:0021605 {source="MONDO:Redundant", source="NCIT:C4357"} ! benign eyelid neoplasm
intersection_of: MONDO:0002407 ! capillary hemangioma
intersection_of: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0021628
name: obsolete lacrimal system disease
is_obsolete: true
replaced_by: MONDO:0001854

[Term]
id: MONDO:0021629
name: uterine ligament neoplasm
def: "A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma." [NCIT:C40133]
synonym: "neoplasm of the uterine ligament" EXACT [NCIT:C40133]
synonym: "neoplasm of uterine ligament" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the uterine ligament" EXACT [NCIT:C40133]
synonym: "tumor of uterine ligament" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of the uterine ligament" EXACT OMO:0003005 []
synonym: "tumour of uterine ligament" EXACT OMO:0003005 []
synonym: "uterine ligament neoplasm" EXACT [NCIT:C40133]
synonym: "uterine ligament neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "uterine ligament tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C40133]
synonym: "uterine ligament tumour" EXACT OMO:0003005 []
xref: MEDGEN:276942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40133 {source="MONDO:equivalentTo"}
xref: UMLS:C1519870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276942"}
is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C40133"} ! female reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0021630
name: lipoma of face
def: "A lipoma that involves the face." [MONDO:patterns/location]
synonym: "face lipoma" EXACT [MONDO:patterns/location]
xref: ICD9:214.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:509492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:93159009 {source="MONDO:equivalentTo"}
xref: UMLS:C0153968 {source="MEDGEN:509492", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:Redundant"} ! head and neck neoplasm
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0001456 ! face

[Term]
id: MONDO:0021631
name: brain astrocytoma
def: "A astrocytoma (excluding glioblastoma) that involves the brain." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma (excluding glioblastoma) of brain" EXACT [MONDO:design_pattern]
synonym: "brain astrocytoma" EXACT [NCIT:C60780]
synonym: "brain astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
xref: MEDGEN:811330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C60780 {source="MONDO:equivalentTo"}
xref: SCTID:254938000 {source="MONDO:equivalentTo"}
xref: UMLS:C3695127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811330"}
is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C60780"} ! astrocytoma (excluding glioblastoma)
is_a: MONDO:0021632 {source="NCIT:C60780"} ! primary brain neoplasm
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0021632
name: primary brain neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "primary brain neoplasm" EXACT [NCIT:C4952]
synonym: "primary brain tumor" EXACT [NCIT:C4952]
synonym: "primary brain tumour" EXACT OMO:0003005 []
xref: MEDGEN:152924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C170814 {source="MONDO:equivalentTo"}
xref: NCIT:C4952 {source="ONCOTREE:PBT", source="MONDO:equivalentTo"}
xref: ONCOTREE:PBT {source="MONDO:equivalentTo"}
xref: UMLS:C0750974 {source="MEDGEN:152924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021211 {source="NCIT:C4952"} ! brain neoplasm

[Term]
id: MONDO:0021633
name: cerebral astrocytoma
def: "An astrocytoma that arises from the cerebral hemispheres." [NCIT:C4951]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma (excluding glioblastoma) of cerebral hemisphere" EXACT [MONDO:design_pattern]
synonym: "astrocytoma of cerebral hemispheres" EXACT [NCIT:C4951]
synonym: "astrocytoma of cerebrum" EXACT [NCIT:C4951]
synonym: "astrocytoma of the cerebral hemispheres" EXACT [NCIT:C4951]
synonym: "astrocytoma of the cerebrum" EXACT [NCIT:C4951]
synonym: "cerebral astrocytoma" EXACT [NCIT:C4951]
synonym: "cerebral hemisphere astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
synonym: "cerebral hemispheric astrocytoma" EXACT [NCIT:C4951]
xref: MEDGEN:196691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4951 {source="MONDO:equivalentTo"}
xref: SCTID:99131000119108 {source="MONDO:equivalentTo"}
xref: UMLS:C0750935 {source="MEDGEN:196691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021374 {source="MONDO:Redundant", source="NCIT:C4951", source="NCIT:C4951/inferred"} ! neoplasm of cerebral hemisphere
is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C4951"} ! brain astrocytoma
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0001869 ! cerebral hemisphere

[Term]
id: MONDO:0021634
name: epithelial skin neoplasm
def: "A epithelial neoplasm that involves the zone of skin." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "epithelial skin neoplasm" EXACT [NCIT:C7342]
synonym: "epithelial skin tumor" EXACT [NCIT:C7342]
synonym: "epithelial skin tumour" EXACT OMO:0003005 []
synonym: "skin epithelium neoplasm" EXACT [NCIT:C7342]
synonym: "skin epithelium tumor" EXACT [NCIT:C7342]
synonym: "skin epithelium tumour" EXACT OMO:0003005 []
synonym: "zone of skin epithelial neoplasm" EXACT [MONDO:patterns/location]
xref: MEDGEN:91063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7342 {source="MONDO:equivalentTo"}
xref: UMLS:C0345976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91063"}
is_a: MONDO:0002531 {source="MONDO:Redundant", source="NCIT:C7342"} ! skin neoplasm
is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C7342"} ! epithelial neoplasm
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0021635
name: neurocristopathy
def: "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Neurocristopathy]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "disorder of neural crest cell development" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of neural crest development" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "neural crest cell development disease" EXACT []
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_basis_in_disruption_of GO:0014032 ! neural crest cell development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0021636
name: astrocytic tumor
def: "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23, NCIT:C6958]
comment: This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23
subset: disease_grouping
subset: gard_rare {source="GARD:12928", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:94"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytic neoplasm" EXACT [NCIT:C6958]
synonym: "astrocytic tumor" EXACT [DOID:3069, NCIT:C6958, Orphanet:94]
synonym: "astrocytoma" NARROW AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23]
synonym: "astrocytoma of brain" EXACT [DOID:3069]
synonym: "astrocytoma of cerebrum" NARROW [DOID:3069]
synonym: "astrocytoma, no ICD-O subtype" EXACT [DOID:3069]
synonym: "astroglioma" EXACT [DOID:3069, NCIT:C6958]
synonym: "cerebral astrocytoma" RELATED EXCLUDE [DOID:3069]
xref: DOID:3069 {source="MONDO:equivalentTo"}
xref: GARD:12928 {source="MONDO:GARD"}
xref: MedDRA:10003571 {source="Orphanet:94/e", source="Orphanet:94"}
xref: MESH:D001254 {source="DOID:3069", source="Orphanet:94/e", source="Orphanet:94"}
xref: NCIT:C4951 {source="DOID:3069"}
xref: NCIT:C6958 {source="DOID:3069", source="MONDO:equivalentTo"}
xref: Orphanet:94 {source="MONDO:equivalentTo"}
xref: SCTID:189914005 {source="DOID:3069"}
xref: SCTID:38713004 {source="DOID:3069"}
xref: SCTID:99131000119108 {source="DOID:3069"}
is_a: MONDO:0021042 {source="NCIT:C6958"} ! glioma

[Term]
id: MONDO:0021637
name: low grade glioma
def: "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma." [NCIT:C132067]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "low grade glioma" EXACT [NCIT:C132067]
synonym: "low-grade glioma" EXACT [NCIT:C132067]
xref: DOID:0080829 {source="MONDO:equivalentTo"}
xref: MEDGEN:744283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C132067 {source="MONDO:equivalentTo"}
xref: UMLS:C1997217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:744283"}
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C132067"} ! glioma
intersection_of: MONDO:0021042 ! glioma
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0021638
name: low grade astrocytic tumor
def: "A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II)." [NCIT:C116342]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "low grade astrocytic neoplasm" EXACT [NCIT:C116342]
synonym: "low grade astrocytic tumor" EXACT [NCIT:C116342]
synonym: "low-grade astrocytic neoplasm" EXACT [NCIT:C116342]
synonym: "low-grade astrocytic tumor" EXACT [NCIT:C116342]
synonym: "low-grade astrocytic tumour" EXACT OMO:0003005 []
xref: NCIT:C116342 {source="MONDO:equivalentTo"}
is_a: MONDO:0021636 {source="MONDO:Redundant", source="NCIT:C116342"} ! astrocytic tumor
is_a: MONDO:0021637 {source="MONDO:Redundant", source="NCIT:C116342"} ! low grade glioma
intersection_of: MONDO:0021636 ! astrocytic tumor
intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system

[Term]
id: MONDO:0021639
name: grade II glioma
def: "A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma." [NCIT:C132505]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "grade II glioma" EXACT [NCIT:C132505]
synonym: "WHO grade II glioma" EXACT [NCIT:C132505]
xref: MEDGEN:1391502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C132505 {source="MONDO:equivalentTo"}
xref: UMLS:C4330050 {source="MONDO:equivalentTo", source="MEDGEN:1391502", source="MONDO:MEDGEN"}
intersection_of: MONDO:0021042 ! glioma
intersection_of: has_characteristic MONDO:0024492 ! tumor grade 2, general grading system

[Term]
id: MONDO:0021640
name: grade III glioma
def: "A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma." [NCIT:C127816]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplastic glioma" EXACT [NCIT:C127816]
synonym: "WHO grade III glioma" EXACT [NCIT:C127816]
xref: MEDGEN:925529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C127816 {source="MONDO:equivalentTo"}
xref: UMLS:C4287997 {source="MEDGEN:925529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100342 {source="NCIT:C127816"} ! malignant glioma
intersection_of: MONDO:0021042 ! glioma
intersection_of: has_characteristic MONDO:0024493 ! tumor grade 3, general grading system

[Term]
id: MONDO:0021641
name: Bunyaviridae infectious disease
def: "Virus diseases caused by the bunyaviridae." [MESH:D002044]
subset: otar {source="MONDO:OTAR"}
synonym: "Bunyaviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bunyaviridae disease or disorder" EXACT []
synonym: "Bunyaviridae infection" RELATED [MESH:D002044]
synonym: "Bunyaviridae infectious disease" EXACT [MONDO:0005686]
synonym: "Bunyavirus infection" RELATED [MESH:D002044]
synonym: "Bunyavirus infections" RELATED [MESH:D002044]
synonym: "disease caused by Bunyaviridae" RELATED []
synonym: "disease caused by Bunyavirus" RELATED []
synonym: "disease due to Bunyaviridae" EXACT []
synonym: "disease due to Bunyavirus" RELATED []
synonym: "infections, Bunyaviridae" RELATED [MESH:D002044]
synonym: "infections, Bunyavirus" RELATED [MESH:D002044]
xref: DOID:1332 {source="MONDO:obsolete", source="EFO:0007188"}
xref: EFO:0007188 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D002044 {source="MONDO:equivalentTo", source="EFO:0007188"}
xref: SCTID:105632002 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="EFO:0007188", source="MESH:D002044/inferred", source="MONDO:Redundant"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:1980416 ! disease has primary infectious agent Peribunyaviridae

[Term]
id: MONDO:0021642
name: vulval varices
def: "A varicose disease that involves the mammalian vulva." [MONDO:patterns/location]
synonym: "mammalian vulva varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of mammalian vulva" EXACT [MONDO:design_pattern]
xref: HP:0100677 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I86.3 {source="MONDO:equivalentTo"}
xref: ICD9:456.6 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:510083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:48868008 {source="HP:0100677", source="MONDO:equivalentTo"}
xref: UMLS:C0155796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510083"}
is_a: MONDO:0004869 {source="https://orcid.org/0000-0002-6601-2165"} ! pelvic varices
intersection_of: MONDO:0008638 ! varicose disease
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva
relationship: disease_has_basis_in_dysfunction_of UBERON:0036267 ! vulval vein

[Term]
id: MONDO:0021643
name: mesenteric varices
def: "A varicose disease that involves the mesentery." [MONDO:patterns/location]
synonym: "mesentery varicose disease" EXACT [MONDO:patterns/location]
synonym: "varicose disease of mesentery" EXACT [MONDO:design_pattern]
xref: HP:0002626 {source="MONDO:otherHierarchy"}
xref: MEDGEN:540965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:22949006 {source="MONDO:equivalentTo"}
xref: UMLS:C0267791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540965"}
intersection_of: MONDO:0008638 ! varicose disease
intersection_of: disease_has_location UBERON:0002095 ! mesentery
relationship: disease_has_basis_in_dysfunction_of UBERON:0005617 ! mesenteric vein

[Term]
id: MONDO:0021644
name: esophageal varices without bleeding
synonym: "esophageal varices without bleeding" EXACT []
xref: ICD10CM:I85.00 {source="MONDO:equivalentTo"}
xref: ICD9:456.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:540382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14223005 {source="MONDO:equivalentTo"}
xref: UMLS:C0267092 {source="MEDGEN:540382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001221 {source="ICD10CM:I85.00", source="ICD10CM:I85.00/inferred", source="ICD10CM:I85.9"} ! esophageal varices

[Term]
id: MONDO:0021645
name: esophageal varices with bleeding
xref: ICD10CM:I85.01 {source="MONDO:equivalentTo"}
xref: ICD10WHO:I85.0 {source="MONDO:equivalentTo"}
xref: ICD9:456.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:57840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:17709002 {source="MONDO:equivalentTo"}
xref: UMLS:C0155789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57840"}
is_a: MONDO:0001221 {source="ICD10CM:I85.0", source="ICD10CM:I85.01", source="ICD10CM:I85.01/inferred"} ! esophageal varices

[Term]
id: MONDO:0021650
name: uterine corpus neuroendocrine neoplasm
def: "An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." [NCIT:C126771]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body of uterus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "body of uterus neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "body of uterus neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "body of uterus neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of body of uterus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "uterine corpus neuroendocrine neoplasm" EXACT [NCIT:C126771]
synonym: "uterine corpus neuroendocrine tumor" EXACT [NCIT:C126771]
synonym: "uterine corpus neuroendocrine tumour" EXACT OMO:0003005 []
xref: MEDGEN:925580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126771 {source="MONDO:equivalentTo"}
xref: UMLS:C4288048 {source="MONDO:equivalentTo", source="MEDGEN:925580", source="MONDO:MEDGEN"}
is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C126771"} ! neuroendocrine neoplasm
is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C126771"} ! corpus uteri neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0009853 ! body of uterus

[Term]
id: MONDO:0021651
name: synpolydactyly
def: "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." [https://en.wikipedia.org/wiki/Synpolydactyly]
subset: gard_rare {source="GARD:5087", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:93403"}
subset: ordo_morphological_anomaly {source="Orphanet:93403"}
subset: orphanet_rare {source="Orphanet:93403"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polysyndactyly" EXACT [SCTID:84598000, UMLS:C0265553]
synonym: "SPD" RELATED ABBREVIATION [GARD:0005087]
synonym: "syndactyly type 2" EXACT [MONDO:0019683]
synonym: "synpolydactyly" EXACT [NCIT:C75003, Orphanet:93403]
xref: GARD:5087 {source="MONDO:GARD"}
xref: ICD10CM:Q70.0 {source="Orphanet:93403", source="Orphanet:93403/nd", source="Orphanet:93403/attributed"}
xref: ICD10CM:Q70.2 {source="Orphanet:93403", source="Orphanet:93403/nd", source="Orphanet:93403/attributed"}
xref: MEDGEN:437845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538153 {source="MONDO:equivalentTo", source="Orphanet:93403", source="Orphanet:93403/e"}
xref: NCIT:C125597 {source="MONDO:relatedTo"}
xref: NCIT:C75003 {source="MONDO:equivalentTo"}
xref: Orphanet:93403 {source="MONDO:equivalentTo", source="GARD:0005087"}
xref: SCTID:715724002 {source="MONDO:equivalentTo"}
xref: SCTID:84598000 {source="MONDO:equivalentTo"}
xref: UMLS:C2699746 {source="MONDO:equivalentTo", source="MEDGEN:437845", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C75003", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0019530 {source="Orphanet:93403", source="https://orcid.org/0000-0001-5208-3432"} ! non-syndromic syndactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3919" xsd:anyURI

[Term]
id: MONDO:0021652
name: diffuse type adenocarcinoma
def: "An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma." [NCIT:C4127]
subset: otar {source="MONDO:OTAR"}
synonym: "diffuse type adenocarcinoma" EXACT [NCIT:C4127]
synonym: "diffuse type carcinoma" EXACT [NCIT:C4127]
xref: ICDO:8145/3 {source="NCIT:C4127"}
xref: MEDGEN:87207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4127 {source="MONDO:equivalentTo"}
xref: UMLS:C0334280 {source="MEDGEN:87207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="NCIT:C4127"} ! adenocarcinoma

[Term]
id: MONDO:0021653
name: cutaneous focal mucinosis
subset: otar {source="MONDO:OTAR"}
synonym: "focal mucinoses" RELATED []
synonym: "focal mucinosis" RELATED []
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:590585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:110981005 {source="MONDO:equivalentTo"}
xref: UMLS:C0406659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590585"}
is_a: MONDO:0002523 ! cutaneous mucinosis

[Term]
id: MONDO:0021654
name: diffuse cutaneous mucinosis
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:590581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238945000 {source="MONDO:equivalentTo"}
xref: UMLS:C0406655 {source="MEDGEN:590581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002523 {source="https://orcid.org/0000-0001-5208-3432"} ! cutaneous mucinosis

[Term]
id: MONDO:0021655
name: secondary catabolic mucinosis of skin
xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:697525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:402723003 {source="MONDO:equivalentTo"}
xref: UMLS:C1274173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:697525"}
is_a: MONDO:0002523 ! cutaneous mucinosis

[Term]
id: MONDO:0021656
name: nongerminomatous germ cell tumor
def: "A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors." [NCIT:C121619]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "non-dysgerminomatous germ cell tumor" EXACT [NCIT:C121619]
synonym: "non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "non-germinomatous germ cell tumor" EXACT [NCIT:C121619]
synonym: "non-germinomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "non-seminomatous germ cell tumor" EXACT [NCIT:C121619]
synonym: "non-seminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "Nongerminomatous germ cell tumor" EXACT [NCIT:C121619]
synonym: "Nongerminomatous germ cell tumor Including central nervous system" EXACT [NCIT:C121619]
synonym: "Nongerminomatous germ cell tumour" EXACT OMO:0003005 []
synonym: "Nongerminomatous germ cell tumour Including central nervous system" EXACT OMO:0003005 []
synonym: "NSGCT" RELATED ABBREVIATION [ONCOTREE:NSGCT]
xref: MEDGEN:220426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121619 {source="MONDO:equivalentTo"}
xref: ONCOTREE:NSGCT {source="MONDO:equivalentTo"}
xref: UMLS:C1266158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220426"}
is_a: MONDO:0005040 {source="NCIT:C121619"} ! germ cell tumor

[Term]
id: MONDO:0021657
name: ovarian sex cord-stromal tumor
def: "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor." [NCIT:C4862]
subset: otar {source="MONDO:OTAR"}
synonym: "ovarian sex cord tumor with annular tubules" RELATED [GARD:0012285]
synonym: "ovarian sex cord tumour with annular tubules" RELATED OMO:0003005 []
synonym: "ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C4862]
synonym: "ovarian Sex cord-stromal tumor" EXACT [NCIT:C4862]
synonym: "ovarian Sex cord-stromal tumour" EXACT OMO:0003005 []
synonym: "ovary sex cord-stromal tumor" EXACT [MONDO:patterns/location]
synonym: "ovary sex cord-stromal tumour" EXACT OMO:0003005 []
synonym: "sex cord stromal tumor" RELATED [ONCOTREE:SCST]
synonym: "sex cord stromal tumour" RELATED OMO:0003005 []
synonym: "Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C4862]
synonym: "Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C4862]
synonym: "Sex cord-stromal tumor of ovary" EXACT [NCIT:C4862]
synonym: "sex cord-stromal tumor of ovary" EXACT []
synonym: "Sex cord-stromal tumor of the ovary" EXACT [NCIT:C4862]
synonym: "Sex cord-stromal tumour of ovary" EXACT OMO:0003005 []
synonym: "sex cord-stromal tumour of ovary" EXACT OMO:0003005 []
synonym: "Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 []
xref: DOID:0080369 {source="MONDO:equivalentTo"}
xref: MEDGEN:154644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4862 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SCST {source="MONDO:equivalentTo"}
xref: UMLS:C0600113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154644"}
is_a: MONDO:0006055 {source="MONDO:Redundant", source="NCIT:C4862"} ! sex cord-stromal tumor
is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C4862"} ! ovarian neoplasm
intersection_of: MONDO:0006055 ! sex cord-stromal tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0021658
name: vascular ectasia
subset: otar {source="MONDO:OTAR"}
synonym: "vascular ectasia" EXACT [NCIT:C45481]
xref: MEDGEN:8080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45481 {source="MONDO:equivalentTo"}
xref: UMLS:C0002959 {source="MEDGEN:8080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005385 {source="NCIT:C45481/inferred"} ! vascular disorder

[Term]
id: MONDO:0021659
name: combined carcinoid and adenocarcinoma
def: "A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells." [NCIT:C4139]
synonym: "adenocarcinoid neoplasm" EXACT [NCIT:C4139]
synonym: "adenocarcinoid tumor" EXACT [NCIT:C4139]
synonym: "adenocarcinoid tumour" EXACT OMO:0003005 []
synonym: "combined carcinoid and adenocarcinoma" EXACT [NCIT:C4139]
synonym: "combined carcinoid neoplasm and adenocarcinoma" EXACT [NCIT:C4139]
synonym: "combined carcinoid tumor and adenocarcinoma" EXACT [NCIT:C4139]
synonym: "combined carcinoid tumour and adenocarcinoma" EXACT OMO:0003005 []
synonym: "composite carcinoid" EXACT [NCIT:C4139]
synonym: "composite carcinoid neoplasm" EXACT [NCIT:C4139]
synonym: "composite carcinoid tumor" EXACT [NCIT:C4139]
synonym: "composite carcinoid tumour" EXACT OMO:0003005 []
synonym: "mixed carcinoid neoplasm" EXACT [NCIT:C4139]
synonym: "mixed carcinoid tumor" EXACT [NCIT:C4139]
synonym: "mixed carcinoid tumour" EXACT OMO:0003005 []
xref: ICDO:8244/3 {source="NCIT:C4139"}
xref: ICDO:8245/3 {source="NCIT:C4139"}
xref: MEDGEN:83124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538230 {source="MONDO:equivalentTo"}
xref: NCIT:C4139 {source="MONDO:equivalentTo"}
xref: UMLS:C0334302 {source="MEDGEN:83124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="MESH:C538230/inferred", source="NCIT:C4139"} ! carcinoma

[Term]
id: MONDO:0021660
name: deep seated dermatophytosis
def: "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars." [NCIT:C35073]
subset: gard_rare {source="GARD:21631", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:397587"}
subset: orphanet_rare {source="Orphanet:397587"}
subset: rare
synonym: "deep dermatophytosis" EXACT [MONDO:0018335]
synonym: "deep seated dermatophytosis" EXACT [NCIT:C35073]
synonym: "disseminated granulomatous dermatophytosis" EXACT [Orphanet:397587]
xref: GARD:21631 {source="MONDO:GARD"}
xref: ICD10CM:B35.8 {source="Orphanet:397587/ntbt", source="Orphanet:397587"}
xref: MEDGEN:235599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35073 {source="MONDO:equivalentTo"}
xref: Orphanet:397587 {source="MONDO:equivalentTo"}
xref: UMLS:C1395264 {source="MONDO:equivalentTo", source="MEDGEN:235599", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="Orphanet:397587"} ! fungal infectious disease
is_a: MONDO:0021201 {source="NCIT:C35073"} ! skin infection
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015578"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4128" xsd:anyURI

[Term]
id: MONDO:0021661
name: coronary atherosclerosis
def: "Atherosclerosis of the coronary vasculature." [NCIT:C35505]
subset: otar {source="MONDO:OTAR"}
synonym: "arteriosclerosis disorder of coronary artery" EXACT [MONDO:design_pattern]
synonym: "atherosclerosis of coronary artery" BROAD []
synonym: "coronary artery arteriosclerosis (disease)" EXACT [MONDO:patterns/location]
synonym: "coronary artery arteriosclerosis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "coronary atherosclerosis" EXACT [NCIT:C35505]
xref: ICD9:414.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:3623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35505 {source="MONDO:equivalentTo"}
xref: SCTID:443502000 {source="MONDO:equivalentTo"}
xref: UMLS:C0010054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3623"}
is_a: MONDO:0005010 {source="MONDO:Redundant", source="https://www.nhlbi.nih.gov/health-topics/coronary-heart-disease"} ! coronary artery disorder
is_a: MONDO:0005311 {source="NCIT:C35505"} ! atherosclerosis
intersection_of: MONDO:0002277 ! arteriosclerosis disorder
intersection_of: disease_has_location UBERON:0001621 ! coronary artery

[Term]
id: MONDO:0021662
name: bile duct neoplasm
def: "A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma." [NCIT:C2898]
subset: otar {source="MONDO:OTAR"}
synonym: "bile duct neoplasm" EXACT [NCIT:C2898]
synonym: "bile duct neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "bile duct tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2898]
synonym: "bile duct tumour" EXACT OMO:0003005 []
synonym: "intrahepatic and extrahepatic bile duct neoplasm" EXACT [NCIT:C2898]
synonym: "intrahepatic and extrahepatic bile duct tumor" EXACT [NCIT:C2898]
synonym: "intrahepatic and extrahepatic bile duct tumour" EXACT OMO:0003005 []
synonym: "neoplasm of bile duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of bile duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of bile duct" EXACT OMO:0003005 []
xref: MEDGEN:14114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001650 {source="MONDO:equivalentTo"}
xref: NCIT:C2898 {source="MONDO:equivalentTo"}
xref: UMLS:C0005396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14114"}
is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C2898"} ! hepatobiliary neoplasm
is_a: MONDO:0002887 {source="MONDO:Redundant", source="NCIT:C2898"} ! bile duct disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002394 ! bile duct

[Term]
id: MONDO:0021663
name: sarcomatoid squamous cell carcinoma
def: "A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features." [NCIT:C27084]
subset: otar {source="MONDO:OTAR"}
synonym: "epidermoid spindle cell carcinoma" EXACT [NCIT:C27084]
synonym: "sarcomatoid squamous cell carcinoma" EXACT [NCIT:C27084]
synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" EXACT [NCIT:C27084]
synonym: "squamous cell carcinoma, sarcomatoid" EXACT [NCIT:C27084]
synonym: "squamous cell carcinoma, spindle cell" EXACT [NCIT:C27084]
synonym: "squamous cell spindle cell carcinoma" EXACT [NCIT:C27084]
xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8074/3 {source="NCIT:C27084"}
xref: NCIT:C27084 {source="MONDO:equivalentTo"}
xref: SCTID:403900000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005096 {source="MONDO:Redundant", source="NCIT:C27084"} ! squamous cell carcinoma
is_a: MONDO:0006406 {source="MONDO:Redundant", source="NCIT:C27084"} ! sarcomatoid carcinoma
intersection_of: MONDO:0005096 {source="NCIT:C27084"} ! squamous cell carcinoma
intersection_of: MONDO:0006406 {source="NCIT:C27084"} ! sarcomatoid carcinoma

[Term]
id: MONDO:0021664
name: obsolete cervical aortic arch
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017991

[Term]
id: MONDO:0021665
name: obsolete Refsum disease
def: "OBSOLETE. A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy." []
comment: This class was intended for representing the union of infantile and adult Refsum diseases, but these are distinct with no genetics or phenotypes in common. {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"}
xref: NCIT:C85043 {source="MONDO:nearestEquivalentOfObsolete", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"}
is_obsolete: true
consider: MONDO:0009958

[Term]
id: MONDO:0021666
name: ear infection
def: "A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting." [NCIT:C27193]
subset: otar {source="MONDO:OTAR"}
synonym: "Ear infection" EXACT [NCIT:C27193]
synonym: "otitis" EXACT [NCIT:C27193]
xref: MEDGEN:147064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010031 {source="MONDO:equivalentTo"}
xref: NCIT:C27193 {source="MONDO:equivalentTo"}
xref: UMLS:C0699744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:147064"}
is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C27193/inferred"} ! inflammatory disease
is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27193/inferred"} ! disorder of ear
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0001690 ! ear

[Term]
id: MONDO:0021667
name: neuralgia
def: "A pain disorder characterize by pain in the distribution of a nerve or nerves" [Wikipedia:Neuralgia]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neuralgia" EXACT []
synonym: "pain, nerve" RELATED [MESH:D009437]
synonym: "pain, neuropathic" RELATED [MESH:D009437]
synonym: "paroxysmal nerve pain" RELATED [MESH:D009437]
synonym: "paroxysmal nerve pains" RELATED [MESH:D009437]
xref: EFO:0009430 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009437 {source="MONDO:equivalentTo"}
xref: SCTID:16269008 {source="MONDO:equivalentTo"}
xref: UMLS:C0027796 {source="MEDGEN:18010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003620 {source="MESH:D009437", source="MONDO:Redundant"} ! peripheral nervous system disorder
is_a: MONDO:0700057 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-4142-7153"} ! neurological pain disorder
intersection_of: MONDO:0005244 ! peripheral neuropathy
intersection_of: disease_has_major_feature HP:0012531 ! Pain

[Term]
id: MONDO:0021668
name: obsolete disorder involving pain
synonym: "pain disorder" EXACT [MONDO:0000691]
xref: DOID:0060164 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D010146 {source="MONDO:otherHierarchy"}
xref: SCTID:373673007 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3163" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0700057

[Term]
id: MONDO:0021669
name: post-infectious disorder
def: "A disorder that follows infection but is distinct from the infection itself and its usual manifestations." [SCTID:123976001]
subset: otar {source="MONDO:OTAR"}
synonym: "sequela of infectious disorder" EXACT [https://github.com/monarch-initiative/mondo/pull/3118#issuecomment-871858054, https://orcid.org/0000-0001-5208-3432]
xref: ICD10CM:B90-B94 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:139.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:688819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:123976001 {source="MONDO:equivalentTo"}
xref: UMLS:C1264603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:688819"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease

[Term]
id: MONDO:0021670
name: post-infectious syndrome
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease

[Term]
id: MONDO:0021673
name: post-bacterial disorder
xref: MEDGEN:928118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4302449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928118"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_arises_from_feature MONDO:0005113 ! bacterial infectious disease

[Term]
id: MONDO:0021674
name: post-viral disorder
def: "A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations." [https://orcid.org/0000-0001-5208-3432]
synonym: "sequela of viral disease" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: ICD9:139.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:688821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:123948009 {source="MONDO:equivalentTo"}
xref: UMLS:C1264605 {source="MONDO:equivalentTo", source="MEDGEN:688821", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_arises_from_feature MONDO:0005108 ! viral infectious disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2950" xsd:anyURI

[Term]
id: MONDO:0021677
name: post-infectious neuralgia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "postinfectious neuralgia" EXACT []
xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:508062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:17111003 {source="MONDO:equivalentTo"}
xref: UMLS:C0032772 {source="MEDGEN:508062", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0021667 ! neuralgia
intersection_of: disease_arises_from_feature MONDO:0005108 ! viral infectious disease

[Term]
id: MONDO:0021678
name: gram-negative bacterial infections
def: "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method." [MESH:D016905]
comment: Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now
subset: otar {source="MONDO:OTAR"}
synonym: "bacterial infection, gram-negative" RELATED [MESH:D016905]
synonym: "bacterial infections, gram negative" RELATED [MESH:D016905]
synonym: "bacterial infections, gram-negative" RELATED [MESH:D016905]
synonym: "bacterial infections, gramme negative" RELATED OMO:0003005 []
synonym: "gram negative bacterial infections" RELATED [MESH:D016905]
synonym: "gram-negative bacterial infection" RELATED [MESH:D016905]
synonym: "gramme negative bacterial infections" RELATED OMO:0003005 []
synonym: "infection, gram-negative bacterial" RELATED [MESH:D016905]
synonym: "infections, gram negative bacterial" RELATED [MESH:D016905]
synonym: "infections, gram-negative bacterial" RELATED [MESH:D016905]
synonym: "infections, gramme negative bacterial" RELATED OMO:0003005 []
xref: ICD9:041.85 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:88406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016905 {source="MONDO:equivalentTo"}
xref: SCTID:371583007 {source="MONDO:equivalentTo"}
xref: UMLS:C0085423 {source="MEDGEN:88406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="MESH:D016905"} ! bacterial infectious disease

[Term]
id: MONDO:0021679
name: gram-positive bacterial infections
def: "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method." [MESH:D016908]
comment: Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now
subset: otar {source="MONDO:OTAR"}
synonym: "bacterial infection, Gram-positive" RELATED [MESH:D016908]
synonym: "bacterial infections, Gram Positive" RELATED [MESH:D016908]
synonym: "bacterial infections, Gram-positive" RELATED [MESH:D016908]
synonym: "bacterial infections, Gramme Positive" RELATED OMO:0003005 []
synonym: "Gram Positive bacterial infections" RELATED [MESH:D016908]
synonym: "Gram-positive bacterial infection" RELATED [MESH:D016908]
synonym: "Gramme Positive bacterial infections" RELATED OMO:0003005 []
synonym: "infection, Gram-positive bacterial" RELATED [MESH:D016908]
synonym: "infections, Gram Positive bacterial" RELATED [MESH:D016908]
synonym: "infections, Gram-positive bacterial" RELATED [MESH:D016908]
synonym: "infections, Gramme Positive bacterial" RELATED OMO:0003005 []
xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016908 {source="MONDO:equivalentTo"}
xref: SCTID:371582002 {source="MONDO:equivalentTo"}
xref: UMLS:C0085426 {source="MEDGEN:39283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="MESH:D016908"} ! bacterial infectious disease

[Term]
id: MONDO:0021680
name: streptococcal infection
def: "Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G." [NCIT:C87062]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, streptococcal" RELATED [MESH:D013290]
synonym: "infections, streptococcal" RELATED [MESH:D013290]
synonym: "streptococcal infection" EXACT [MESH:D013290, NCIT:C87062]
synonym: "Streptococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Streptococcus disease or disorder" EXACT []
synonym: "Streptococcus infectious disease" EXACT []
xref: EFO:1001476 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:041.00 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:041.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:20963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013290 {source="MONDO:equivalentTo"}
xref: NCIT:C87062 {source="MONDO:equivalentTo"}
xref: SCTID:85769006 {source="MONDO:equivalentTo"}
xref: UMLS:C0038395 {source="MEDGEN:20963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="EFO:1001476", source="MESH:D013290/inferred", source="MONDO:Redundant", source="NCIT:C87062"} ! bacterial infectious disease
is_a: MONDO:0021679 {source="MESH:D013290"} ! gram-positive bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1301 ! Streptococcus

[Term]
id: MONDO:0021681
name: sexually transmitted disease
def: "A Disease due to or propagated by sexual contact." [https://orcid.org/0000-0002-6601-2165, MESH:D012749]
subset: otar {source="MONDO:OTAR"}
synonym: "disease (VD), venereal" EXACT [NCIT:C3365]
synonym: "disease, sexually Transmitted" RELATED [MESH:D012749]
synonym: "disease, venereal" RELATED [MESH:D012749]
synonym: "diseases, sexually Transmitted" RELATED [MESH:D012749]
synonym: "diseases, venereal" RELATED [MESH:D012749]
synonym: "infection, sexually Transmitted" RELATED [MESH:D012749]
synonym: "infections, sexually Transmitted" RELATED [MESH:D012749]
synonym: "sexually transmitted disease" EXACT [MESH:D012749]
synonym: "sexually Transmitted disorder" EXACT [NCIT:C3365]
synonym: "sexually Transmitted infection" RELATED [MESH:D012749]
synonym: "sexually Transmitted infections" RELATED [MESH:D012749]
synonym: "STD" EXACT ABBREVIATION [NCIT:C3365]
synonym: "STDs" RELATED [MESH:D012749]
synonym: "STI" RELATED ABBREVIATION [MESH:D012749]
synonym: "STIs" RELATED [MESH:D012749]
synonym: "Transmitted infection, sexually" RELATED [MESH:D012749]
synonym: "Transmitted infections, sexually" RELATED [MESH:D012749]
synonym: "VD" EXACT ABBREVIATION [NCIT:C3365]
synonym: "VD, venereal disease" EXACT [NCIT:C3365]
synonym: "venereal disease" RELATED [MESH:D012749]
synonym: "venereal disease (VD)" EXACT [NCIT:C3365]
synonym: "venereal diseases" RELATED [MESH:D012749]
xref: ICD10CM:A50-A64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:099.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:099.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:11402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012749 {source="MONDO:equivalentTo"}
xref: NCIT:C3365 {source="MONDO:equivalentTo"}
xref: SCTID:8098009 {source="MONDO:equivalentTo"}
xref: UMLS:C0036916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11402"}
is_a: MONDO:0005550 {source="ICD10CM:A50-A64", source="MONDO:Redundant", source="NCIT:C3365"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: realized_in NCIT:C19085 ! Sexual Transmission
relationship: disease_has_location UBERON:0000990 ! reproductive system

[Term]
id: MONDO:0021682
name: viral sexually transmitted disease
def: "Viral diseases which are potentially transmitted or propagated by sexual conduct." [https://orcid.org/0000-0002-6601-2165, MESH:D015229]
synonym: "disease, viral venereal" RELATED [MESH:D015229]
synonym: "diseases, viral venereal" RELATED [MESH:D015229]
synonym: "sexually Transmitted disease, viral" RELATED [MESH:D015229]
synonym: "venereal disease, viral" RELATED [MESH:D015229]
synonym: "venereal diseases, viral" RELATED [MESH:D015229]
synonym: "viral sexually transmitted disease" EXACT [MESH:D015229]
synonym: "viral sexually Transmitted diseases" RELATED [MESH:D015229]
synonym: "viral venereal disease" RELATED [MESH:D015229]
synonym: "viral venereal diseases" RELATED [MESH:D015229]
xref: MEDGEN:48646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015229 {source="MONDO:equivalentTo"}
xref: UMLS:C0036918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48646"}
is_a: MONDO:0005108 {source="MESH:D015229/inferred", source="MONDO:Redundant"} ! viral infectious disease
is_a: MONDO:0021681 {source="MESH:D015229", source="MONDO:Redundant"} ! sexually transmitted disease
intersection_of: MONDO:0021681 ! sexually transmitted disease
intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious agent Viruses

[Term]
id: MONDO:0021683
name: obsolete transmissible disease
def: "OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process." [https://orcid.org/0000-0002-6601-2165]
is_obsolete: true
consider: MONDO:0005550

[Term]
id: MONDO:0021684
name: obsolete infectious disease of central nervous system
is_obsolete: true
replaced_by: MONDO:0024619

[Term]
id: MONDO:0021690
name: obsolete congenital left ventricular aneurysm
def: "OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055]" [Orphanet:1055]
subset: ordo_disorder {source="Orphanet:1055"}
xref: GARD:2305 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q24.8 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:1055 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0021697
name: chlamydia infectious disease
def: "Infections with bacteria of the genus CHLAMYDIA." [MESH:D002690]
subset: otar {source="MONDO:OTAR"}
synonym: "Chlamydia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydia disease or disorder" EXACT []
synonym: "Chlamydia infection" RELATED [MESH:D002690]
synonym: "Chlamydia infectious disease" EXACT []
synonym: "chlamydia infectious disease" EXACT []
synonym: "Chlamydophila caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydophila disease or disorder" EXACT []
synonym: "infection, Chlamydia" RELATED [MESH:D002690]
synonym: "infections, Chlamydia" RELATED [MESH:D002690]
xref: DOID:11264 {source="EFO:1000863", source="MONDO:obsolete"}
xref: EFO:1000863 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A70-A74 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D002690 {source="MONDO:equivalentTo"}
xref: MESH:D023521 {source="MONDO:equivalentTo", source="EFO:1000863"}
is_a: MONDO:0005323 {source="MESH:D002690"} ! bacterial sexually transmitted disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:810 ! Chlamydia

[Term]
id: MONDO:0021698
name: alcohol-related disorders
def: "Disorders related to or resulting from abuse or mis-use of alcohol." [MESH:D019973]
subset: otar {source="MONDO:OTAR"}
synonym: "alcohol related disorders" RELATED [MESH:D019973]
synonym: "alcohol-related disorder" RELATED [MESH:D019973]
synonym: "disorder, alcohol-related" RELATED [MESH:D019973]
synonym: "disorders, alcohol-related" RELATED [MESH:D019973]
xref: MEDGEN:68632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019973 {source="MONDO:equivalentTo"}
xref: SCTID:29212009 {source="MONDO:equivalentTo"}
xref: UMLS:C0236664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68632"}
is_a: MONDO:0002494 {source="MESH:D019973", source="MONDO:Redundant"} ! substance-related disorder
intersection_of: MONDO:0002494 ! substance-related disorder
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0021699
name: alcohol-induced disorders
def: "Disorders stemming from the misuse and abuse of alcohol." [MESH:D020751]
subset: otar {source="MONDO:OTAR"}
synonym: "alcohol induced disorders" RELATED [MESH:D020751]
synonym: "alcohol-induced disorder" RELATED [MESH:D020751]
xref: MEDGEN:65935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020751 {source="MONDO:equivalentTo"}
xref: SCTID:719848005 {source="MONDO:equivalentTo"}
xref: UMLS:C0236970 {source="MEDGEN:65935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021698 {source="MESH:D020751"} ! alcohol-related disorders

[Term]
id: MONDO:0021702
name: alcohol amnestic disorder
def: "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" [MESH:D000425]
subset: otar {source="MONDO:OTAR"}
synonym: "alcohol amnestic disorders" RELATED [MESH:D000425]
synonym: "alcohol amnestic syndrome" RELATED [MESH:D000425]
synonym: "alcohol amnestic syndromes" RELATED [MESH:D000425]
synonym: "alcohol induced amnestic psychosis" RELATED [MESH:D000425]
synonym: "alcohol induced amnestic syndrome" RELATED [MESH:D000425]
synonym: "alcohol induced Dysmnesic psychosis" RELATED [MESH:D000425]
synonym: "alcohol induced Dysmnesic syndrome" RELATED [MESH:D000425]
synonym: "alcohol induced Korsakoff syndrome" RELATED [MESH:D000425]
synonym: "alcohol induced persisting amnestic disorder" RELATED [MESH:D000425]
synonym: "alcohol-induced amnestic psychoses" RELATED [MESH:D000425]
synonym: "alcohol-induced amnestic psychosis" RELATED [MESH:D000425]
synonym: "alcohol-induced amnestic syndrome" RELATED [MESH:D000425]
synonym: "alcohol-induced amnestic syndromes" RELATED [MESH:D000425]
synonym: "alcohol-induced Dysmnesic psychoses" RELATED [MESH:D000425]
synonym: "alcohol-induced Dysmnesic psychosis" RELATED [MESH:D000425]
synonym: "alcohol-induced Dysmnesic syndrome" RELATED [MESH:D000425]
synonym: "alcohol-induced Dysmnesic syndromes" RELATED [MESH:D000425]
synonym: "alcohol-induced Korsakoff syndrome" RELATED [MESH:D000425]
synonym: "alcohol-induced Korsakoff syndromes" RELATED [MESH:D000425]
synonym: "alcohol-induced persisting amnestic disorder" RELATED [MESH:D000425]
synonym: "alcoholic Korsakoff syndrome" RELATED [MESH:D000425]
synonym: "alcoholic Korsakoff syndromes" RELATED [MESH:D000425]
synonym: "amnestic disorder, alcohol" RELATED [MESH:D000425]
synonym: "amnestic disorders, alcohol" RELATED [MESH:D000425]
synonym: "amnestic psychoses, alcohol-induced" RELATED [MESH:D000425]
synonym: "amnestic psychosis, alcohol induced" RELATED [MESH:D000425]
synonym: "amnestic psychosis, alcohol-induced" RELATED [MESH:D000425]
synonym: "amnestic syndrome, alcohol" RELATED [MESH:D000425]
synonym: "amnestic syndrome, alcohol-induced" RELATED [MESH:D000425]
synonym: "amnestic syndromes, alcohol" RELATED [MESH:D000425]
synonym: "amnestic syndromes, alcohol-induced" RELATED [MESH:D000425]
synonym: "Dysmnesic psychoses, alcohol-induced" RELATED [MESH:D000425]
synonym: "Dysmnesic psychosis, alcohol-induced" RELATED [MESH:D000425]
synonym: "Dysmnesic syndrome, alcohol-induced" RELATED [MESH:D000425]
synonym: "Dysmnesic syndromes, alcohol-induced" RELATED [MESH:D000425]
synonym: "Korsakoff syndrome, alcohol-induced" RELATED [MESH:D000425]
synonym: "Korsakoff syndrome, alcoholic" RELATED [MESH:D000425]
synonym: "Korsakoff syndromes, alcohol-induced" RELATED [MESH:D000425]
synonym: "Korsakoff syndromes, alcoholic" RELATED [MESH:D000425]
synonym: "psychoses, alcohol-induced amnestic" RELATED [MESH:D000425]
synonym: "psychoses, alcohol-induced Dysmnesic" RELATED [MESH:D000425]
synonym: "psychosis, alcohol-induced amnestic" RELATED [MESH:D000425]
synonym: "psychosis, alcohol-induced Dysmnesic" RELATED [MESH:D000425]
synonym: "syndrome, alcohol amnestic" RELATED [MESH:D000425]
synonym: "syndrome, alcohol-induced amnestic" RELATED [MESH:D000425]
synonym: "syndrome, alcohol-induced Dysmnesic" RELATED [MESH:D000425]
synonym: "syndrome, alcohol-induced Korsakoff" RELATED [MESH:D000425]
synonym: "syndrome, alcoholic Korsakoff" RELATED [MESH:D000425]
synonym: "syndromes, alcohol amnestic" RELATED [MESH:D000425]
synonym: "syndromes, alcohol-induced amnestic" RELATED [MESH:D000425]
synonym: "syndromes, alcohol-induced Dysmnesic" RELATED [MESH:D000425]
synonym: "syndromes, alcohol-induced Korsakoff" RELATED [MESH:D000425]
synonym: "syndromes, alcoholic Korsakoff" RELATED [MESH:D000425]
xref: EFO:1001759 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000425 {source="MONDO:equivalentTo"}
xref: SCTID:73097000 {source="MONDO:equivalentTo"}
xref: UMLS:C0001940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799"}
is_a: MONDO:0001152 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! amnestic disorder
is_a: MONDO:0021698 {source="MESH:D000425", source="MESH:D000425/inferred"} ! alcohol-related disorders
intersection_of: MONDO:0001152 ! amnestic disorder
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption

[Term]
id: MONDO:0021718
name: polyneuritis
def: "Inflammation of several peripheral nerves." [NCIT:C26864]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Inflammatory polyneuropathy" RELATED [UMLS:C0032541]
synonym: "inflammatory polyneuropathy" RELATED []
synonym: "Multiple neuritis" RELATED [GTR:AN1355640, HP:0031003]
synonym: "Polyneuritides" RELATED [MESH:D009443]
synonym: "Polyneuritis" RELATED [GTR:AN1353837, HP:0031003, MESH:D009443, NCIT:C26864]
synonym: "polyneuritis" EXACT [NCIT:C26864]
xref: GTR:AN1353837 {source="UMLS:C0032541"}
xref: GTR:AN1355640 {source="UMLS:C0032541"}
xref: HP:0031003 {source="UMLS:C0032541"}
xref: MEDGEN:46005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009443 {source="UMLS:C0032541"}
xref: NCIT:C26864 {source="MONDO:equivalentTo", source="UMLS:C0032541"}
xref: SCTID:76886005 {source="MONDO:equivalentTo", source="UMLS:C0032541"}
xref: UMLS:C0032541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:46005"}
is_a: MONDO:0001824 {source="NCIT:C26864"} ! polyneuropathy
is_a: MONDO:0002122 {source="NCIT:C26864"} ! neuritis
intersection_of: MONDO:0001824 ! polyneuropathy
intersection_of: MONDO:0002122 ! neuritis

[Term]
id: MONDO:0021720
name: obsolete fetal alcohol spectrum disorders
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3393" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0000408

[Term]
id: MONDO:0021722
name: vulvodynia
def: "Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months." [Wikipedia:Vulvodynia]
synonym: "vulvodynia" EXACT []
xref: ICD9:625.70 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:96066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056650 {source="MONDO:equivalentTo"}
xref: SCTID:238968009 {source="MONDO:equivalentTo"}
xref: UMLS:C0406670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96066"}
is_a: MONDO:0700057 {source="https://orcid.org/0000-0002-4142-7153"} ! neurological pain disorder
relationship: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0021723
name: vaginismus
def: "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection." [NCIT:C78703]
synonym: "myalgia of pelvic floor" EXACT [https://orcid.org/0000-0002-8169-9049, SCTID:712752004]
synonym: "vaginismus" EXACT [NCIT:C78703]
xref: ICD10CM:N94.2 {source="MONDO:equivalentTo"}
xref: MEDGEN:412150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052065 {source="MONDO:equivalentTo"}
xref: NCIT:C78703 {source="MONDO:otherHierarchy"}
xref: UMLS:C2004487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412150"}
is_a: MONDO:0001433 {source="https://orcid.org/0000-0002-4142-7153"} ! vaginal disorder
relationship: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0021725
name: obsolete Abderhalden-Kaufmann-Lignac syndrome
is_obsolete: true
replaced_by: MONDO:0100151

[Term]
id: MONDO:0021726
name: abdominal cystic lymphangioma
def: "Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.." [GARD:0000439]
subset: gard_rare {source="GARD:439", source="MONDO:GARD"}
subset: rare
synonym: "abdomen cystic lymphangioma" EXACT [MONDO:patterns/location]
synonym: "abdominal retroperitoneal lymphangioma" RELATED [GARD:0000439, MESH:C535553]
synonym: "RCL" RELATED ABBREVIATION [GARD:0000439]
synonym: "retroperitoneal cystic lymphangioma" RELATED [GARD:0000439, MESH:C535553]
xref: GARD:439 {source="MONDO:GARD"}
xref: MEDGEN:419287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535553 {source="MONDO:equivalentTo"}
xref: UMLS:C2930929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419287"}
is_a: MONDO:0009761 {source="MESH:C535553"} ! cystic hygroma
intersection_of: MONDO:0009761 ! cystic hygroma
intersection_of: disease_has_location UBERON:0000916 ! abdomen
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma" xsd:anyURI {source="GARD:0000439"}

[Term]
id: MONDO:0021727
name: aberrant subclavian artery
def: "Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.." [GARD:0005706]
synonym: "aberrant left subclavian artery" NARROW [GARD:0005706, MESH:C535555]
synonym: "aberrant right subclavian artery" NARROW [GARD:0005706, MESH:C535555]
synonym: "aberrant subclavian artery" EXACT []
synonym: "congenital malposition of subclavian artery" EXACT []
synonym: "congenital malpositioned subclavian artery" RELATED []
xref: MEDGEN:98134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535555 {source="MONDO:equivalentTo"}
xref: SCTID:93353003 {source="MONDO:equivalentTo"}
xref: UMLS:C0431498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98134"}
is_a: MONDO:0000001 ! disease
relationship: disease_has_location UBERON:0001533 ! subclavian artery
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery" xsd:anyURI {source="GARD:0005706"}

[Term]
id: MONDO:0021736
name: proctosigmoiditis
def: "Inflammation of the sigmoid colon and rectum." [NCIT:C34950]
synonym: "Proctosigmoiditis" RELATED [MESH:D011350, NCIT:C34950]
synonym: "proctosigmoiditis" EXACT [NCIT:C34950]
synonym: "Rectosigmoiditis" RELATED [MESH:D011350]
synonym: "rectosigmoiditis" RELATED []
xref: ICD9:569.89
xref: MEDGEN:18653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011350 {source="UMLS:C0033252"}
xref: NCIT:C34950 {source="MONDO:equivalentTo", source="UMLS:C0033252"}
xref: SCTID:41364008 {source="MONDO:equivalentTo", source="UMLS:C0033252"}
xref: UMLS:C0033252 {source="MONDO:equivalentTo", source="MEDGEN:18653", source="MONDO:MEDGEN"}
is_a: MONDO:0024278 {source="NCIT:C34950", source="UMLS:C0033252"} ! proctocolitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001052 ! rectum
intersection_of: disease_has_inflammation_site UBERON:0001159 ! sigmoid colon

[Term]
id: MONDO:0021739
name: prurigo
def: "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)" [MESH:D011536]
subset: otar {source="MONDO:OTAR"}
synonym: "Itchy skin eruption" RELATED [UMLS:C0033771]
synonym: "itchy skin eruption" RELATED []
synonym: "Prurigo" RELATED [MESH:D011536]
synonym: "prurigo" EXACT []
synonym: "Pruritic rash" RELATED [UMLS:C0033771]
synonym: "pruritic rash" EXACT []
xref: ICD9:698.2
xref: ICD9:698.8
xref: MEDGEN:10986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011536 {source="MONDO:equivalentTo", source="UMLS:C0033771"}
xref: SCTID:64144002 {source="MONDO:equivalentTo", source="UMLS:C0033771"}
xref: UMLS:C0033771 {source="MEDGEN:10986", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MESH:D011536"} ! skin disorder
is_a: MONDO:0006547 ! exanthem

[Term]
id: MONDO:0021742
name: puerperal infection
def: "An infection occurring in puerperium, the period of 6-8 weeks after giving birth." [MESH:D011645]
subset: otar {source="MONDO:OTAR"}
synonym: "Infection, Puerperal" RELATED [MESH:D011645]
synonym: "Infections, Puerperal" RELATED [MESH:D011645]
synonym: "Puerperal Infection" RELATED [MESH:D011645]
synonym: "Puerperal Infections" RELATED [MESH:D011645]
xref: EFO:1001407 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:11022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011645 {source="UMLS:C0034041", source="MONDO:equivalentTo"}
xref: UMLS:C0034041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11022"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0044013 ! puerperal disorder

[Term]
id: MONDO:0021745
name: psychosocial short stature
def: "A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress." [Wikipedia:Psychosocial_short_stature]
synonym: "abuse dwarfism syndrome" RELATED [GARD:0009440]
synonym: "child abuse dwarfism" RELATED [GARD:0009440, MESH:C535569]
synonym: "Kaspar Hauser syndrome" RELATED [Wikipedia:Psychosocial_short_stature]
synonym: "psychosocial dwarfism" RELATED [GARD:0009440, MESH:C535569]
xref: MEDGEN:264104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535569 {source="MONDO:equivalentTo"}
xref: SCTID:39465007 {source="MONDO:equivalentTo"}
xref: UMLS:C1455735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:264104"}
is_a: MONDO:0005287 {source="MESH:C535569"} ! developmental disability
is_a: MONDO:0006909 ! pituitary dwarfism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9440/psychosocial-short-stature" xsd:anyURI {source="GARD:0009440"}

[Term]
id: MONDO:0021746
name: pyelocystitis
synonym: "Cystopyelitis" RELATED [MESH:D053653]
synonym: "Pyelocystitis" RELATED [MESH:D053653]
xref: MEDGEN:18778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053653 {source="UMLS:C0034184", source="MONDO:equivalentTo"}
xref: UMLS:C0034184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18778"}
is_a: MONDO:0006032 {source="MESH:D053653"} ! cystitis
is_a: MONDO:0006938 {source="MESH:D053653"} ! pyelitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001224 ! renal pelvis
intersection_of: disease_has_inflammation_site UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0021747
name: Acanthamoeba infectious disease
def: "An infectious disease involving the Acanthamoeba." [MONDO:patterns/infectious_disease_by_agent]
subset: otar {source="MONDO:OTAR"}
synonym: "Acanthamoeba infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "acanthamoebiasis" RELATED []
synonym: "acanthamoebosis" RELATED []
synonym: "infection by Acanthamoeba" EXACT []
synonym: "infection caused by Acanthamoeba" RELATED []
synonym: "infections, Acanthamoeba" RELATED [MONDO:patterns/infectious_disease_by_agent]
xref: SCTID:49649001 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5754 ! Acanthamoeba

[Term]
id: MONDO:0021750
name: pyonephrosis
def: "Pus within the collecting system of the kidney." [NCIT:C123032]
synonym: "Hydronephrosis, Infected" RELATED [MESH:D053018]
synonym: "Infected Hydronephrosis" RELATED [MESH:D053018]
synonym: "Pyonephrosis" RELATED [MESH:D053018, NCIT:C123032]
synonym: "pyonephrosis" EXACT [NCIT:C123032]
xref: MEDGEN:11051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053018 {source="MONDO:equivalentTo", source="UMLS:C0034216"}
xref: NCIT:C123032 {source="MONDO:equivalentTo", source="UMLS:C0034216"}
xref: SCTID:48631008 {source="MONDO:equivalentTo", source="UMLS:C0034216"}
xref: UMLS:C0034216 {source="MEDGEN:11051", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="UMLS:C0034216"} ! kidney disorder

[Term]
id: MONDO:0021752
name: Achard-Thiers syndrome
def: "Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women" [https://rarediseases.org/rare-diseases/achard-thiers-syndrome/, ISBN-13:978-0-7817-3063-1]
synonym: "Achard Thiers syndrome" RELATED [GARD:0005709]
synonym: "diabetes in bearded women" RELATED [GARD:0005709]
synonym: "diabetic-bearded woman syndrome" RELATED [GARD:0005709]
xref: MEDGEN:124410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536013 {source="MONDO:equivalentTo"}
xref: SCTID:34041001 {source="MONDO:equivalentTo"}
xref: UMLS:C0271732 {source="MEDGEN:124410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_shares_features_of MONDO:0015898 ! adrenogenital syndrome
relationship: disease_shares_features_of MONDO:0018912 ! Cushing syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome" xsd:anyURI {source="GARD:0005709"}

[Term]
id: MONDO:0021758
name: acquired agranulocytosis
def: "Agranulocytosis that is autoimmune in origin." [https://orcid.org/0000-0001-5208-3432, PMID:443260]
subset: gard_rare {source="GARD:5717", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:743"}
subset: rare
synonym: "agranulocytic angina" RELATED [MESH:C538171]
synonym: "Agranulocytosis, Acquired" EXACT [NORD:743]
synonym: "agranulocytosis, acquired" RELATED [GARD:0005717]
synonym: "granulocytopenia, primary" RELATED [MESH:C538171]
synonym: "neutropenia, malignant" RELATED [MESH:C538171]
xref: GARD:5717 {source="MONDO:GARD"}
xref: MEDGEN:115995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538171 {source="MONDO:equivalentTo"}
xref: NORD:743 {source="MONDO:NORD"}
xref: SCTID:72050006 {source="MONDO:equivalentTo"}
xref: UMLS:C0235585 {source="MEDGEN:115995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001609 {source="MESH:C538171"} ! agranulocytosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis" xsd:anyURI {source="GARD:0005717"}

[Term]
id: MONDO:0021759
name: acquired fructose intolerance
def: "Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications." [GARD:0002399]
subset: inferred_rare
subset: rare
synonym: "acquired fructose intolerance" EXACT []
synonym: "dietary fructose intolerance" RELATED [GARD:0002399]
synonym: "fructose malabsorption" RELATED [GARD:0002399]
synonym: "intestinal fructose intolerance" RELATED [GARD:0002399]
xref: MEDGEN:288539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:413427002 {source="MONDO:equivalentTo"}
xref: UMLS:C1531694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:288539"}
is_a: MONDO:0017689 ! disorder of fructose metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2399/acquired-fructose-intolerance" xsd:anyURI {source="GARD:0002399"}

[Term]
id: MONDO:0021761
name: acral dysostosis dyserythropoiesis syndrome
def: "An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet." [https://orcid.org/0000-0001-5208-3432, PMID:7641772]
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/478/acral-dysostosis-dyserythropoiesis-syndrome" xsd:anyURI {source="GARD:0000478"}

[Term]
id: MONDO:0021762
name: acrocoxomesomelic dysplasia
def: "A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine." [PMID:6331794]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:483", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "acro-coxo-mesomelic dwarfism" EXACT [PMID:6331794]
xref: GARD:483 {source="MONDO:GARD"}
is_a: MONDO:0018230 ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/483/acro-coxo-mesomelic-dysplasia" xsd:anyURI {source="GARD:0000483"}

[Term]
id: MONDO:0021764
name: acrofacial dysostosis Preis type
def: "Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:7625437]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:495", source="MONDO:GARD"}
subset: n_of_one
subset: obsoletion_candidate
subset: rare
xref: GARD:495 {source="MONDO:GARD"}
is_a: MONDO:0018237 {source="https://orcid.org/0000-0001-5208-3432"} ! acrofacial dysostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type" xsd:anyURI {source="GARD:0000495"}

[Term]
id: MONDO:0021765
name: radiculitis
def: "An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path." [NCIT:C78581]
subset: otar {source="MONDO:OTAR"}
synonym: "Inflammation, Nerve Root" RELATED [MESH:D011843]
synonym: "Nerve Root Inflammation" RELATED [MESH:D011843]
synonym: "Nerve Root Inflammations" RELATED [MESH:D011843]
synonym: "Radiculitides" RELATED [MESH:D011843]
synonym: "Radiculitis" RELATED [MESH:D011843, NCIT:C78581]
synonym: "radiculitis" EXACT [NCIT:C78581]
xref: ICD9:729.2
xref: MEDGEN:11099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011843 {source="UMLS:C0034544"}
xref: NCIT:C78581 {source="MONDO:equivalentTo", source="UMLS:C0034544"}
xref: SCTID:82473003 {source="MONDO:equivalentTo", source="UMLS:C0034544"}
xref: UMLS:C0034544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11099"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_inflammation_site UBERON:0002211 ! nerve root

[Term]
id: MONDO:0021777
name: acute rheumatic heart disease
def: "Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci)." [NCIT:C34985]
synonym: "Active rheumatic fever with heart involvement" RELATED [UMLS:C0035440]
synonym: "active rheumatic fever with heart involvement" RELATED []
synonym: "acute rheumatic carditis" RELATED [UMLS:C0035440]
synonym: "acute rheumatic fever with heart involvement" RELATED [UMLS:C0035440]
synonym: "acute Rheumatic Heart Disease" RELATED [NCIT:C34985]
synonym: "acute rheumatic heart disease" EXACT [NCIT:C34985, UMLS:C0035440]
xref: ICD9:391.8
xref: ICD9:391.9
xref: MEDGEN:19779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34985 {source="UMLS:C0035440", source="MONDO:equivalentTo"}
xref: SCTID:312591002 {source="UMLS:C0035440", source="MONDO:equivalentTo"}
xref: UMLS:C0035440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19779"}
is_a: MONDO:0006955 {source="NCIT:C34985"} ! rheumatic heart disease
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0021783
name: streptococcal sore throat
def: "Inflammation of the throat due to Streptococcus pyogenes." [NCIT:C116003]
synonym: "Septic sore throat" RELATED [UMLS:C0036689]
synonym: "Strep throat" RELATED [UMLS:C0036689]
synonym: "strep throat" EXACT [NCIT:C116003]
synonym: "Strept throat" RELATED [UMLS:C0036689]
synonym: "Streptococcal angina" RELATED [UMLS:C0036689]
synonym: "Streptococcal Pharyngitis" RELATED [NCIT:C116003]
synonym: "Streptococcal pharyngitis" RELATED [UMLS:C0036689]
synonym: "streptococcal pharyngitis" EXACT [NCIT:C116003]
synonym: "Streptococcal sore throat" RELATED [UMLS:C0036689]
xref: ICD9:034.0
xref: MEDGEN:508129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116003 {source="MONDO:equivalentTo", source="UMLS:C0036689"}
xref: SCTID:43878008 {source="MONDO:equivalentTo", source="UMLS:C0036689"}
xref: UMLS:C0036689 {source="MEDGEN:508129", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002258 {source="NCIT:C116003", source="UMLS:C0036689"} ! pharyngitis
is_a: MONDO:0021680 ! streptococcal infection
intersection_of: MONDO:0002258 ! pharyngitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1301 ! Streptococcus

[Term]
id: MONDO:0021804
name: silicotuberculosis
def: "Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population." [https://orcid.org/0000-0002-6670-9157, PMID:26175823]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "silicotuberculoses" EXACT [MESH:D012830]
synonym: "silicotuberculosis" EXACT [MESH:D012830]
xref: ICD9:502
xref: MEDGEN:11426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012830 {source="MONDO:equivalentTo", source="UMLS:C0037118"}
xref: SCTID:233763009 {source="MONDO:equivalentTo", source="UMLS:C0037118"}
xref: UMLS:C0037118 {source="MEDGEN:11426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005960 {source="MESH:D012830"} ! silicosis
is_a: MONDO:0006052 {source="MESH:D012830", source="UMLS:C0037118"} ! pulmonary tuberculosis
intersection_of: MONDO:0005960 ! silicosis
intersection_of: MONDO:0018076 ! tuberculosis

[Term]
id: MONDO:0021805
name: acromesomelic dysplasia, Campailla Martinelli type
subset: gard_rare {source="GARD:505", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acromesomelic dysplasia Campailla Martinelli type" RELATED [MESH:C535659]
synonym: "mesomelic dwarfism Campailla-Martinelli type" RELATED [GARD:0000505, MESH:C535659]
xref: GARD:505 {source="MONDO:GARD"}
xref: MEDGEN:418955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535659 {source="MONDO:equivalentTo"}
xref: UMLS:C2930969 {source="MEDGEN:418955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="MESH:C535659", source="MONDO:Redundant", source="MONDO:indirect"} ! osteochondrodysplasia
is_a: MONDO:0019696 {source="https://orcid.org/0000-0002-6601-2165"} ! acromesomelic dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type" xsd:anyURI {source="GARD:0000505"}

[Term]
id: MONDO:0021808
name: acute cholinergic dysautonomia
def: "A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset." [https://orcid.org/0000-0001-5208-3432, PMID:8194274]
synonym: "ACD" RELATED ABBREVIATION [GARD:0009394]
xref: MEDGEN:419684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535672 {source="MONDO:equivalentTo"}
xref: UMLS:C2930973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419684"}
is_a: MONDO:0021809 {source="MESH:C535672"} ! primary dysautonomia
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9394/acute-cholinergic-dysautonomia" xsd:anyURI {source="GARD:0009394"}

[Term]
id: MONDO:0021809
name: primary dysautonomia
def: "Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate." [MESH:D054969]
synonym: "dysautonomia" RELATED [MESH:D054969]
synonym: "dysautonomia, primary" RELATED [MESH:D054969]
synonym: "Dysautonomias" RELATED [MESH:D054969]
synonym: "Dysautonomias, primary" RELATED [MESH:D054969]
synonym: "primary dysautonomia" EXACT [MESH:D054969]
xref: MESH:D054969 {source="MONDO:equivalentTo"}
is_a: MONDO:0001292 {source="MESH:D054969", source="MONDO:indirect"} ! autonomic nervous system disorder
is_a: MONDO:0044872 {source="https://orcid.org/0000-0001-5208-3432"} ! dysautonomia

[Term]
id: MONDO:0021811
name: acute mountain sickness
def: "Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances." [https://orcid.org/0000-0001-5208-3432, PMID:11450659]
synonym: "acosta's disease" RELATED []
synonym: "acute mountain sickness" EXACT []
synonym: "altitude anoxia" RELATED [GARD:0005730]
synonym: "altitude sickness" RELATED [GARD:0005730]
synonym: "high altitude cerebral edema" RELATED [GARD:0005730]
synonym: "high altitude cerebral oedema" RELATED OMO:0003005 []
synonym: "high altitude pulmonary edema" RELATED [GARD:0005730]
synonym: "high altitude pulmonary oedema" RELATED OMO:0003005 []
synonym: "Mountain sickness" RELATED [GARD:0005730]
synonym: "soroche" RELATED []
xref: ICD9:993.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:536790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:78590007 {source="MONDO:equivalentTo"}
xref: UMLS:C0238284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536790"}
is_a: MONDO:0006625 ! altitude sickness
relationship: has_characteristic PATO:0000389 ! acute
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5730/acute-mountain-sickness" xsd:anyURI {source="GARD:0005730"}

[Term]
id: MONDO:0021812
name: adnexal spiradenoma/cylindroma of a sweat gland
def: "A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative." [NCIT:C27094]
comment: Editor note: See GARD:0010464
subset: otar {source="MONDO:OTAR"}
synonym: "adnexal sweat gland spiradenoma/cylindroma" RELATED [GARD:0008641]
synonym: "cylindroma" EXACT [NCIT:C27094]
synonym: "cylindroma of skin" EXACT [NCIT:C27094]
synonym: "cylindroma of the skin" EXACT [NCIT:C27094]
synonym: "dermal cylindroma" EXACT [NCIT:C27094]
xref: ICDO:8200/0 {source="NCIT:C27094"}
xref: NCIT:C27094 {source="MONDO:equivalentTo"}
xref: SCTID:274903001 {source="MONDO:equivalentTo"}
is_a: MONDO:0021489 {source="NCIT:C27094"} ! benign neoplasm of sweat gland
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8641/adnexal-spiradenomacylindroma-of-a-sweat-gland" xsd:anyURI {source="GARD:0008641"}

[Term]
id: MONDO:0021824
name: adult progressive spinal muscular atrophy, Aran Duchenne type
def: "A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others." [https://orcid.org/0000-0001-5208-3432, PMID:18299524]
subset: gard_rare {source="GARD:9132", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "adult progressive spinal muscular atrophy Aran Duchenne type" RELATED [GARD:0009132]
synonym: "adult SMA Aran Duchenne type" RELATED [GARD:0009132]
synonym: "Aran Duchenne spinal muscular atrophy" RELATED [GARD:0009132]
xref: GARD:9132 {source="MONDO:GARD"}
is_a: MONDO:0018687 ! progressive muscular atrophy
relationship: has_characteristic HP:0003581 ! Adult onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9132/adult-progressive-spinal-muscular-atrophy-aran-duchenne-type" xsd:anyURI {source="GARD:0009132"}

[Term]
id: MONDO:0021826
name: aerobic Actinomyces infection
def: "Infection with the less common aerobic antinomyces bacteria." [https://orcid.org/0000-0001-5208-3432, PMID:14875224]
subset: gard_rare {source="GARD:9779", source="MONDO:GARD"}
subset: rare
xref: GARD:9779 {source="MONDO:GARD"}
xref: MEDGEN:419478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538054 {source="MONDO:equivalentTo"}
xref: UMLS:C2931717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419478"}
is_a: MONDO:0005631 {source="MESH:C538054"} ! actinomycosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection" xsd:anyURI {source="GARD:0009779"}

[Term]
id: MONDO:0021829
name: agnathia-microstomia-synotia
synonym: "agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment" RELATED [GARD:0010125, MESH:C538059]
synonym: "Plurimalformative syndrome" RELATED [GARD:0010125, MESH:C538059]
xref: MEDGEN:419145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538059 {source="MONDO:equivalentTo"}
xref: UMLS:C2931718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419145"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10125/agnathia-microstomia-synotia" xsd:anyURI {source="GARD:0010125"}

[Term]
id: MONDO:0021834
name: Akaba Hayasaka syndrome
def: "A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia." [https://orcid.org/0000-0001-5208-3432, PMID:8989469]
synonym: "frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia" RELATED [GARD:0000577]
xref: MEDGEN:443940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535609 {source="MONDO:equivalentTo"}
xref: UMLS:C2930948 {source="MEDGEN:443940", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="MESH:C535609"} ! osteochondrodysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/577/akaba-hayasaka-syndrome" xsd:anyURI {source="GARD:0000577"}

[Term]
id: MONDO:0021836
name: Aksu von Stockhausen syndrome
def: "A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:6468450]
subset: n_of_one
synonym: "aksu von stockhausen syndrome" EXACT [MONDO:0022406]
synonym: "hereditary branchial arch defects" RELATED [GARD:0000579, MESH:C535611]
xref: MEDGEN:419676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535611 {source="MONDO:equivalentTo"}
xref: UMLS:C2930949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419676"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome" xsd:anyURI {source="GARD:0000579"}

[Term]
id: MONDO:0021838
name: Al Gazali Khidr Prem Chandran syndrome
def: "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:8281276]
subset: gard_rare {source="GARD:586", source="MONDO:GARD"}
subset: n_of_one
subset: rare
synonym: "cherubism, optic atrophy and short stature" RELATED [GARD:0000586, MESH:C535616]
xref: GARD:586 {source="MONDO:GARD"}
xref: MEDGEN:419678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535616 {source="MONDO:equivalentTo"}
xref: UMLS:C2930951 {source="MEDGEN:419678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003608 {source="MESH:C535616", source="MONDO:Redundant"} ! optic atrophy
is_a: MONDO:0007315 {source="MESH:C535616"} ! cherubism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome" xsd:anyURI {source="GARD:0000586"}

[Term]
id: MONDO:0021839
name: spirochaetales infections
def: "Infections with bacteria of the order SPIROCHAETALES." [MESH:D013145]
subset: otar {source="MONDO:OTAR"}
synonym: "INFECT SPIROCHAETALES" RELATED [MESH:D013145]
synonym: "INFECT SPIROCHETE" RELATED [MESH:D013145]
synonym: "Infection, Spirochaetales" RELATED [MESH:D013145]
synonym: "Infection, Spirochete" RELATED [MESH:D013145]
synonym: "Infections, Spirochaetales" RELATED [MESH:D013145]
synonym: "Infections, Spirochete" RELATED [MESH:D013145]
synonym: "SPIROCHAETALES INFECT" RELATED [MESH:D013145]
synonym: "Spirochaetales Infection" RELATED [MESH:D013145]
synonym: "Spirochaetales Infections" RELATED [GARD:0007682, MESH:D013145]
synonym: "Spirochetal infection" RELATED [UMLS:C0037974]
synonym: "SPIROCHETE INFECT" RELATED [MESH:D013145]
synonym: "Spirochete Infection" RELATED [MESH:D013145]
synonym: "Spirochete Infections" RELATED [MESH:D013145]
synonym: "Spirochetosis" RELATED [UMLS:C0037974]
xref: EFO:0009567 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A65-A69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:11556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013145 {source="MONDO:equivalentTo", source="UMLS:C0037974"}
xref: SCTID:41116009 {source="UMLS:C0037974"}
xref: UMLS:C0037974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11556"}
is_a: MONDO:0000001 {source="GARD:0007682"} ! disease
is_a: MONDO:0005113 {source="MESH:D013145", source="UMLS:C0037974"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:203691 ! Spirochaetota
relationship: has_characteristic MONDO:0021136 {source="GARD:0007682"} ! rare

[Term]
id: MONDO:0021845
name: Aloi Tomasini Isaia syndrome
def: "A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:2715453]
subset: gard_rare {source="GARD:417", source="MONDO:GARD"}
subset: n_of_one
subset: rare
synonym: "basal cell nevus anodontia abnormal bone mineralization" EXACT [MONDO:0022546]
synonym: "basal cell nevus, anodontia, abnormal bone mineralization" RELATED [GARD:0000417, MESH:C537049]
synonym: "unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization" RELATED [GARD:0000417]
xref: GARD:417 {source="MONDO:GARD"}
xref: MEDGEN:419073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537049 {source="MONDO:equivalentTo"}
xref: UMLS:C2931405 {source="MEDGEN:419073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0008797 {source="MESH:C537049"} ! anodontia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3700" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/417/aloi-tomasini-isaia-syndrome" xsd:anyURI {source="GARD:0000417"}

[Term]
id: MONDO:0021849
name: obsolete alopecia macular degeneration growth retardation syndrome
comment: Reason: out of scope, MONDO:excludeHistoricalDisease. Obsoleted in Orphanet. Term to consider: MONDO:0009155 EEM syndrome
synonym: "alopecia macular degeneration growth retardation" RELATED [MESH:C538125]
synonym: "alopecia, macular degeneration, and growth retardation" RELATED [MESH:C538125]
xref: DOID:0111649 {source="MONDO:relatedTo"}
xref: MESH:C538125 {source="MONDO:relatedTo"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4817" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/610/alopecia-macular-degeneration-growth-retardation" xsd:anyURI {source="GARD:0000610"}
is_obsolete: true
consider: MONDO:0009155

[Term]
id: MONDO:0021851
name: alopecia universalis onychodystrophy vitiligo
def: "A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun." [https://orcid.org/0000-0001-5208-3432, PMID:14043609]
subset: gard_rare {source="GARD:615", source="MONDO:GARD"}
subset: rare
synonym: "alopecia universalis, onychodystrophy, and total vitiligo" RELATED [GARD:0000615, MESH:C537056]
xref: GARD:615 {source="MONDO:GARD"}
xref: MEDGEN:444049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537056 {source="MONDO:equivalentTo"}
xref: UMLS:C2931408 {source="MONDO:equivalentTo", source="MEDGEN:444049", source="MONDO:MEDGEN"}
is_a: MONDO:0004907 {source="MESH:C537056"} ! alopecia
is_a: MONDO:0008661 {source="MESH:C537056"} ! vitiligo
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo" xsd:anyURI {source="GARD:0000615"}

[Term]
id: MONDO:0021856
name: Alsing syndrome
def: "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion." [https://orcid.org/0000-0001-5208-3432, PMID:3231430]
synonym: "atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality" RELATED [GARD:0009213]
xref: MEDGEN:444013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536588 {source="MONDO:equivalentTo"}
xref: UMLS:C2931255 {source="MEDGEN:444013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MESH:C536588"} ! kidney disorder
is_a: MONDO:0100191 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited kidney disorder
relationship: excluded_subClassOf MONDO:0001476 {source="MESH:C536588", source="https://orcid.org/0000-0001-5208-3432"} ! coloboma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9213/alsing-syndrome" xsd:anyURI {source="GARD:0009213"}

[Term]
id: MONDO:0021879
name: small cell variant anaplastic large cell lymphoma
def: "A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei." [NCIT:C7208]
subset: gard_rare {source="GARD:9477", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anaplastic small cell lymphoma" RELATED [GARD:0009477]
synonym: "small cell variant anaplastic large cell lymphoma" EXACT [NCIT:C7208]
synonym: "small cell variant of anaplastic large cell lymphoma" EXACT [GARD:0009477, MESH:C538255, PMID:21043827]
xref: GARD:9477 {source="MONDO:GARD"}
xref: MEDGEN:234787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538255 {source="MONDO:equivalentTo"}
xref: NCIT:C7208 {source="MONDO:equivalentTo"}
xref: UMLS:C1335983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234787"}
is_a: MONDO:0018908 {source="MESH:C538255", source="NCIT:C7208/inferred"} ! non-Hodgkin lymphoma
is_a: MONDO:0020325 {source="NCIT:C7208"} ! anaplastic large cell lymphoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma" xsd:anyURI {source="GARD:0009477"}

[Term]
id: MONDO:0021895
name: temporomandibular joint dysfunction syndrome
def: "A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management." [NCIT:C35066]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Costen Syndrome" RELATED [MESH:D013706]
synonym: "Costen's complex" RELATED [UMLS:C0039496]
synonym: "Costen's Syndrome" RELATED [MESH:D013706]
synonym: "Costen's syndrome" RELATED [UMLS:C0039496]
synonym: "Costens Syndrome" RELATED [MESH:D013706]
synonym: "Joint Syndrome, Temporomandibular" RELATED [MESH:D013706]
synonym: "Mandibular dysfunction" RELATED [UMLS:C0039496]
synonym: "Myofascial pain - dysfunction syndrome of TMJ" RELATED [UMLS:C0039496]
synonym: "Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint" RELATED [MESH:D013706]
synonym: "Snapping jaw" RELATED [UMLS:C0039496]
synonym: "Syndrome, Costen's" RELATED [MESH:D013706]
synonym: "Syndrome, Temporomandibular Joint" RELATED [MESH:D013706]
synonym: "Syndrome, TMJ" RELATED [MESH:D013706]
synonym: "Temporomandibular Joint Dysfunction Syndrome" RELATED [MESH:D013706, NCIT:C35066]
synonym: "temporomandibular joint dysfunction syndrome" EXACT [NCIT:C35066]
synonym: "Temporomandibular joint pain dysfunction syndrome" RELATED [UMLS:C0039496]
synonym: "Temporomandibular Joint Syndrome" RELATED [MESH:D013706]
synonym: "Temporomandibular joint syndrome" RELATED [UMLS:C0039496]
synonym: "Temporomandibular joint-pain-dysfunction syndrome" RELATED [UMLS:C0039496]
synonym: "TMJ Syndrome" RELATED [MESH:D013706]
synonym: "TMJ syndrome" RELATED [UMLS:C0039496]
synonym: "TMJPDS - Temporomandibular joint pain dysfunction syndrome" RELATED [UMLS:C0039496]
xref: MEDGEN:21093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013706 {source="UMLS:C0039496", source="MONDO:equivalentTo"}
xref: NCIT:C35066 {source="UMLS:C0039496", source="MONDO:equivalentTo"}
xref: SCTID:386207004 {source="UMLS:C0039496"}
xref: SCTID:41888000 {source="UMLS:C0039496"}
xref: UMLS:C0039496 {source="MEDGEN:21093", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C35066", source="UMLS:C0039496"} ! syndromic disease
is_a: MONDO:0005473 {source="MESH:D013706"} ! temporomandibular joint disorder
is_a: MONDO:0006862 {source="MESH:D013706", source="UMLS:C0039496"} ! myofascial pain syndrome

[Term]
id: MONDO:0021896
name: anterior spinal artery stroke
xref: MEDGEN:419851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537776 {source="MONDO:equivalentTo"}
xref: UMLS:C2931608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419851"}
is_a: MONDO:0005098 ! stroke disorder
is_a: MONDO:0020688 {source="MESH:C537776"} ! spinal cord ischemia
relationship: disease_has_location UBERON:0002458 ! spinal artery
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9653/anterior-spinal-artery-stroke" xsd:anyURI {source="GARD:0009653"}

[Term]
id: MONDO:0021902
name: aortopulmonary window
def: "A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery." [NCIT:C101050]
comment: Editor note: NCIT treats as disease but consider obsoleting in favor og HP
synonym: "aortic-pulmonary window" RELATED [GARD:0000745]
synonym: "aorto-pulmonary window" RELATED [GARD:0000745]
synonym: "aortopulmonary septal defect" EXACT [GARD:0000745, NCIT:C101050]
synonym: "aortopulmonary window" EXACT [NCIT:C101050]
synonym: "AP window" EXACT [NCIT:C101050]
synonym: "APSD" EXACT ABBREVIATION [NCIT:C101050]
synonym: "APW" EXACT ABBREVIATION [NCIT:C101050]
xref: HP:0011604 {source="MONDO:otherHierarchy"}
xref: MEDGEN:365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001028 {source="MONDO:equivalentTo"}
xref: NANDO:2100082 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200262 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C101050 {source="MONDO:equivalentTo"}
xref: SCTID:17024001 {source="MONDO:equivalentTo"}
xref: UMLS:C0003516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:365"}
is_a: MONDO:0005267 {source="MESH:D001028/inferred", source="NCIT:C101050/inferred"} ! heart disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/745/aortopulmonary-window" xsd:anyURI {source="GARD:0000745"}

[Term]
id: MONDO:0021905
name: Apert-like polydactyly syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "Apert like polydactyly syndrome" RELATED [GARD:0000746]
is_a: MONDO:0002254 ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/746/apert-like-polydactyly-syndrome" xsd:anyURI {source="GARD:0000746"}

[Term]
id: MONDO:0021907
name: aplasia cutis autosomal recessive
def: "Aplasia cutis with autosomal recessive inheritance." [https://orcid.org/0000-0001-5208-3432, PMID:3906608]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:749 {source="MONDO:GARD"}
is_a: MONDO:0007145 ! aplasia cutis congenita
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/749/aplasia-cutis-autosomal-recessive" xsd:anyURI {source="GARD:0000749"}

[Term]
id: MONDO:0021908
name: aplasia cutis congenita dominant
def: "Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance." [https://orcid.org/0000-0001-5208-3432, PMID:3906608]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:751", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:751 {source="MONDO:GARD"}
is_a: MONDO:0007145 {source="https://orcid.org/0000-0001-5208-3432"} ! aplasia cutis congenita
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant" xsd:anyURI {source="GARD:0000751"}

[Term]
id: MONDO:0021909
name: obsolete aplasia cutis congenita recessive
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/141" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007145

[Term]
id: MONDO:0021910
name: obsolete aplasia cutis myopia
is_obsolete: true
replaced_by: MONDO:0010988

[Term]
id: MONDO:0021913
name: aquagenic pruritus
def: "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success." [GARD:0010278]
synonym: "aquagenic pruritus" EXACT []
synonym: "water-induced itching" RELATED []
xref: ICD9:698.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238695001 {source="MONDO:equivalentTo"}
xref: UMLS:C0406409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98026"}
is_a: MONDO:0005093 ! skin disorder
intersection_of: MONDO:0005093 ! skin disorder
intersection_of: disease_has_feature HP:0000989 ! Pruritus
intersection_of: realized_in_response_to ECTO:9000156 ! exposure to water
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10278/aquagenic-pruritus" xsd:anyURI {source="GARD:0010278"}

[Term]
id: MONDO:0021915
name: arakawa syndrome 2
def: "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly." [NCIT:C99081]
subset: gard_rare {source="GARD:8265", source="MONDO:GARD"}
subset: rare
synonym: "Arakawa syndrome II" EXACT [NCIT:C99081]
synonym: "Arakawa's syndrome 2" EXACT [MESH:C537426, NCIT:C99081]
synonym: "Arakawa's syndrome II" EXACT [NCIT:C99081]
synonym: "homocystinuria-megaloblastic Anemia, cblG complementation type" EXACT [NCIT:C99081]
synonym: "methionine synthase deficiency" EXACT [NCIT:C99081]
synonym: "methylcobalamin deficiency, cblG type" EXACT [NCIT:C99081]
synonym: "N5-methylhomocysteine transferase deficiency" RELATED [MESH:C537426]
synonym: "tetrahydrofolate methyltransferase deficiency" EXACT [NCIT:C99081]
synonym: "tetrahydrofolate-methyltransferase deficiency syndrome" RELATED [MESH:C537426]
xref: GARD:8265 {source="MONDO:GARD"}
xref: MEDGEN:75697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537426 {source="MONDO:equivalentTo"}
xref: NANDO:2201111 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99081 {source="MONDO:equivalentTo"}
xref: SCTID:89579000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75697"}
is_a: MONDO:0002254 {source="NCIT:C99081"} ! syndromic disease
is_a: MONDO:0004736 {source="MESH:C537426"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019052 {source="MESH:C537426/inferred", source="MONDO:Redundant", source="NCIT:C99081", source="NCIT:C99081/inferred"} ! inborn errors of metabolism

[Term]
id: MONDO:0021918
name: arena syndrome
synonym: "spastic paraplegia with iron deposits in basal ganglia" RELATED [GARD:0009223, MESH:C537428]
xref: MEDGEN:444068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537428 {source="MONDO:equivalentTo"}
xref: UMLS:C2931491 {source="MEDGEN:444068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9223/arena-syndrome" xsd:anyURI {source="GARD:0009223"}

[Term]
id: MONDO:0021921
name: Arnold stickler bourne syndrome
subset: gard_rare {source="GARD:366", source="MONDO:GARD"}
subset: rare
synonym: "corneal crystals myopathy and nephropathy" RELATED [MESH:C537431]
synonym: "corneal crystals myopathy and neuropathy" RELATED [GARD:0000366]
xref: GARD:366 {source="MONDO:GARD"}
xref: MEDGEN:419426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537431 {source="MONDO:equivalentTo"}
xref: UMLS:C2931492 {source="MEDGEN:419426", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000942 {source="MESH:C537431"} ! corneal disorder
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0004323 {source="MESH:C537431"} ! muscular atrophy
is_a: MONDO:0005240 {source="MESH:C537431"} ! kidney disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome" xsd:anyURI {source="GARD:0000366"}

[Term]
id: MONDO:0021923
name: Arroyo Garcia Cimadevilla syndrome
def: "A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:1352427]
subset: n_of_one
synonym: "bilateral anophthalmia, esophageal atresia, and right cryptorchidism" RELATED [GARD:0000771, MESH:C537439]
xref: MEDGEN:419817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537439 {source="MONDO:equivalentTo"}
xref: UMLS:C2931494 {source="MEDGEN:419817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001044 {source="MESH:C537439"} ! esophageal atresia
is_a: MONDO:0009047 {source="MESH:C537439"} ! cryptorchidism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/771/arroyo-garcia-cimadevilla-syndrome" xsd:anyURI {source="GARD:0000771"}

[Term]
id: MONDO:0021925
name: tracheobronchitis
def: "Inflammation of the tracheobronchial tree." [NCIT:C122784]
subset: otar {source="MONDO:OTAR"}
synonym: "Tracheobronchitis" RELATED [NCIT:C122784]
synonym: "tracheobronchitis" EXACT [NCIT:C122784]
xref: MEDGEN:508208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122784 {source="MONDO:equivalentTo", source="UMLS:C0040586"}
xref: SCTID:13617004 {source="MONDO:equivalentTo", source="UMLS:C0040586"}
xref: UMLS:C0040586 {source="MEDGEN:508208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0007196 ! tracheobronchial tree

[Term]
id: MONDO:0021927
name: obsolete arthrogryposis epileptic seizures migrational brain disorder
synonym: "arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder" RELATED [GARD:0000781, MESH:C537442]
xref: MESH:C537442 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6407" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/781/arthrogryposis-epileptic-seizures-migrational-brain-disorder" xsd:anyURI {source="GARD:0000781"}
is_obsolete: true

[Term]
id: MONDO:0021929
name: traumatic myositis ossificans
def: "Myositis Ossificans resulting from trauma." [NCIT:C35081]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Myositis ossificans circumscripta" RELATED [UMLS:C0040798]
synonym: "myositis ossificans circumscripta" RELATED []
synonym: "Myositis ossificans traumatica" RELATED [UMLS:C0040798]
synonym: "myositis ossificans traumatica" RELATED []
synonym: "Traumatic Myositis Ossificans" RELATED [NCIT:C35081]
synonym: "Traumatic myositis ossificans" RELATED [UMLS:C0040798]
synonym: "traumatic myositis ossificans" EXACT [NCIT:C35081]
xref: ICD9:728.12
xref: MEDGEN:11895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35081 {source="UMLS:C0040798", source="MONDO:equivalentTo"}
xref: SCTID:70917000 {source="UMLS:C0040798", source="MONDO:equivalentTo"}
xref: UMLS:C0040798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11895"}
is_a: MONDO:0003964 {source="NCIT:C35081", source="UMLS:C0040798"} ! myositis ossificans

[Term]
id: MONDO:0021932
name: infection by Trypanosoma gambiense
def: "Trypanosomiasis caused by infection by Trypanosoma brucei gambiense." [NCIT:C35084]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chronic sleeping sickness" RELATED [UMLS:C0041232]
synonym: "Gambian sleeping sickness" RELATED [GARD:0008540, UMLS:C0041232]
synonym: "Gambian trypanosomiasis" RELATED [NCIT:C35084, UMLS:C0041232]
synonym: "Gambiense trypanosomiasis infection" RELATED [UMLS:C0041232]
synonym: "Infection by Trypanosoma gambiense" EXACT [UMLS:C0041232]
synonym: "Infection caused by Trypanosoma gambiense" RELATED [UMLS:C0041232]
xref: ICD9:086.3
xref: MEDGEN:11933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35084 {source="MONDO:equivalentTo", source="UMLS:C0041232"}
xref: SCTID:75809006 {source="MONDO:equivalentTo", source="UMLS:C0041232"}
xref: UMLS:C0041232 {source="MEDGEN:11933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="GARD:0008540"} ! disease
is_a: MONDO:0005459 ! human African trypanosomiasis
intersection_of: MONDO:0002406 ! dermatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:31285 ! Trypanosoma brucei gambiense
relationship: has_characteristic MONDO:0021136 {source="GARD:0008540"} ! rare

[Term]
id: MONDO:0021935
name: aspergillus niger infection
def: "A infectious disease involving the Aspergillus niger." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="GARD:9716", source="MONDO:GARD"}
subset: rare
synonym: "Aspergillus niger infection" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "Aspergillus niger infection, pulmonary" RELATED [GARD:0009716, MESH:C535390]
synonym: "infections, Aspergillus niger" RELATED [MONDO:patterns/infectious_disease_by_agent]
xref: GARD:9716 {source="MONDO:GARD"}
xref: MEDGEN:82916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535390 {source="MONDO:equivalentTo"}
xref: UMLS:C0276657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82916"}
is_a: MONDO:0005657 {source="MESH:C535390", source="MONDO:Entailed", source="MONDO:Redundant"} ! aspergillosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5061 ! Aspergillus niger
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection" xsd:anyURI {source="GARD:0009716"}

[Term]
id: MONDO:0021937
name: obsolete Asrar Facharzt Haque syndrome
is_obsolete: true
replaced_by: MONDO:0011273

[Term]
id: MONDO:0021941
name: infection by Trypanosoma rhodesiense
def: "An infection with Trypanosoma brucei rhodesiense." [NCIT:C35085]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acute sleeping sickness" RELATED []
synonym: "infection by trypanosoma rhodesiense" EXACT []
synonym: "infection caused by trypanosoma rhodesiense" RELATED []
synonym: "rhodesian sleeping sickness" RELATED []
synonym: "rhodesian trypanosomiasis" EXACT [NCIT:C35085]
xref: ICD9:086.4
xref: MEDGEN:11934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35085 {source="MONDO:equivalentTo"}
xref: SCTID:42872003 {source="MONDO:equivalentTo"}
xref: UMLS:C0041233 {source="MEDGEN:11934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005459 ! human African trypanosomiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:31286 ! Trypanosoma brucei rhodesiense

[Term]
id: MONDO:0021943
name: tuberculoma
def: "A tumor-like mass resulting from the enlargement of a tuberculous lesion." [MESH:D014375]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Tuberculoma" RELATED [MESH:D014375]
synonym: "Tuberculomas" RELATED [MESH:D014375]
xref: MEDGEN:52881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014375 {source="MONDO:equivalentTo", source="UMLS:C0041295"}
xref: SCTID:15202009 {source="MONDO:equivalentTo", source="UMLS:C0041295"}
xref: UMLS:C0041295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52881"}
is_a: MONDO:0018076 {source="MESH:D014375", source="UMLS:C0041295"} ! tuberculosis

[Term]
id: MONDO:0021944
name: auditory neuropathy
def: "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." [NCIT:C116364]
comment: Editor note: OMIMPS seems to refer to a more restricted concept
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9274", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANSD" EXACT ABBREVIATION [NCIT:C116364]
synonym: "auditory dys-synchrony" EXACT [GARD:0009274, MESH:C538268, NCIT:C116364]
synonym: "auditory neuropathy" EXACT CLINGEN_LABEL [NCIT:C116364]
synonym: "auditory neuropathy spectrum disorder" EXACT [NCIT:C116364]
synonym: "familial auditory neuropathy" NARROW [MESH:C538268]
synonym: "progressive auditory neuropathy" NARROW [MESH:C538268]
xref: GARD:9274 {source="MONDO:GARD"}
xref: MEDGEN:338895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538268 {source="MONDO:equivalentTo"}
xref: NCIT:C116364 {source="MONDO:equivalentTo"}
xref: OMIMPS:609129 {source="MONDO:equivalentTo"}
xref: SCTID:443805006 {source="MONDO:equivalentTo"}
xref: UMLS:C1852271 {source="MEDGEN:338895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005365 {source="MESH:C538268/inferred"} ! hearing loss disorder
is_a: MONDO:0021945 {source="MESH:C538268/inferred", source="MONDO:Redundant", source="NCIT:C116364"} ! hearing disorder
relationship: disease_disrupts GO:0007605 ! sensory perception of sound
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609129"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy" xsd:anyURI {source="GARD:0009274"}

[Term]
id: MONDO:0021945
name: hearing disorder
def: "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear." [NCIT:C3078]
subset: otar {source="MONDO:OTAR"}
synonym: "auditory alteration" RELATED []
synonym: "disorder of hearing" RELATED []
synonym: "hearing disorder" EXACT [NCIT:C3078]
xref: MEDGEN:82636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006311 {source="MONDO:equivalentTo"}
xref: NCIT:C3078 {source="MONDO:equivalentTo"}
xref: SCTID:128540005 {source="MONDO:equivalentTo"}
xref: UMLS:C0260662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82636"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_disrupts GO:0007605 ! sensory perception of sound
relationship: disease_has_location UBERON:0016490 ! auditory system

[Term]
id: MONDO:0021948
name: cutaneous tuberculosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cutaneous Tuberculoses" RELATED [MESH:D014382]
synonym: "Cutaneous Tuberculosis" RELATED [MESH:D014382]
synonym: "Cutaneous tuberculosis" RELATED [UMLS:C0041309]
synonym: "cutaneous tuberculosis" EXACT []
synonym: "Skin Tuberculoses" RELATED [MESH:D014382]
synonym: "Skin Tuberculosis" RELATED [MESH:D014382]
synonym: "Tuberculoderma" RELATED [UMLS:C0041309]
synonym: "tuberculoderma" RELATED []
synonym: "Tuberculoses, Cutaneous" RELATED [MESH:D014382]
synonym: "Tuberculoses, Skin" RELATED [MESH:D014382]
synonym: "Tuberculosis cutis" RELATED [UMLS:C0041309]
synonym: "tuberculosis cutis" RELATED []
synonym: "Tuberculosis of skin" RELATED [UMLS:C0041309]
synonym: "tuberculosis of skin" EXACT []
synonym: "Tuberculosis, Cutaneous" RELATED [MESH:D014382]
synonym: "Tuberculosis, Skin" RELATED [MESH:D014382]
xref: MEDGEN:22515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014382 {source="UMLS:C0041309"}
xref: SCTID:66986005 {source="MONDO:equivalentTo", source="UMLS:C0041309"}
xref: UMLS:C0041309 {source="MEDGEN:22515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0000014 ! zone of skin
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4143" xsd:anyURI

[Term]
id: MONDO:0021950
name: autoimmune oophoritis
def: "Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions." [GARD:0009461]
xref: MEDGEN:163900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538274 {source="MONDO:equivalentTo"}
xref: UMLS:C0878654 {source="MEDGEN:163900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006877 {source="MESH:C538274", source="MONDO:Entailed", source="MONDO:Redundant"} ! oophoritis
intersection_of: MONDO:0006877 ! oophoritis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: disease_has_feature MONDO:0005387 ! primary ovarian failure
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9461/autoimmune-oophoritis" xsd:anyURI {source="GARD:0009461"}

[Term]
id: MONDO:0021952
name: autoimmune progesterone dermatitis
def: "Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries." [GARD:0009139]
synonym: "APD" RELATED ABBREVIATION [GARD:0009139]
synonym: "autoimmune progesterone dermatitis" EXACT []
synonym: "autoimmune progesterone dermatitis/urticaria" EXACT []
synonym: "autoimmune progesterone urticaria" RELATED []
synonym: "progesterone dermatitis" RELATED []
xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:220359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535299 {source="MONDO:equivalentTo"}
xref: SCTID:400009001 {source="MONDO:equivalentTo"}
xref: UMLS:C1260879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220359"}
is_a: MONDO:0002406 {source="https://orcid.org/0000-0001-5208-3432"} ! dermatitis
is_a: MONDO:0007179 {source="MESH:C535299", source="MONDO:Redundant"} ! autoimmune disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9139/autoimmune-progesterone-dermatitis" xsd:anyURI {source="GARD:0009139"}

[Term]
id: MONDO:0021953
name: tuberculous fibrosis of lung
def: "Scarring of the lung parenchyma caused by pulmonary tuberculosis." [NCIT:C35088]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Tuberculous Fibrosis of Lung" RELATED [NCIT:C35088]
synonym: "Tuberculous fibrosis of lung" RELATED [UMLS:C0041336]
synonym: "tuberculous fibrosis of lung" EXACT [NCIT:C35088]
xref: ICD9:011.40
xref: ICD9:011.41
xref: ICD9:011.42
xref: ICD9:011.43
xref: ICD9:011.44
xref: ICD9:011.46
xref: MEDGEN:21729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35088 {source="UMLS:C0041336", source="MONDO:equivalentTo"}
xref: SCTID:90117007 {source="UMLS:C0041336", source="MONDO:equivalentTo"}
xref: UMLS:C0041336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21729"}
is_a: MONDO:0006052 {source="NCIT:C35088", source="UMLS:C0041336"} ! pulmonary tuberculosis
intersection_of: MONDO:0002771 ! pulmonary fibrosis
intersection_of: MONDO:0006052 ! pulmonary tuberculosis

[Term]
id: MONDO:0021957
name: autosomal recessive nonsyndromic congenital nuclear cataract
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital nuclear cataract, autosomal recessive" RELATED [GARD:0009492, MESH:C537298]
xref: MEDGEN:419085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537298 {source="MONDO:equivalentTo"}
xref: UMLS:C2931470 {source="MONDO:equivalentTo", source="MEDGEN:419085", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="MESH:C537298", source="MONDO:Redundant", source="MONDO:indirect"} ! cataract
is_a: MONDO:0020376 ! early-onset nuclear cataract
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9492/autosomal-recessive-nonsyndromic-congenital-nuclear-cataract" xsd:anyURI {source="GARD:0009492"}

[Term]
id: MONDO:0021960
name: ureteritis
def: "An acute or chronic inflammatory process affecting the ureter." [NCIT:C78666]
synonym: "Inflammation of ureter" RELATED [UMLS:C0041959]
synonym: "Ureteritis" RELATED [NCIT:C78666]
synonym: "ureteritis" EXACT [NCIT:C78666]
xref: MEDGEN:21777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78666 {source="MONDO:equivalentTo", source="UMLS:C0041959"}
xref: SCTID:111405003 {source="MONDO:equivalentTo", source="UMLS:C0041959"}
xref: UMLS:C0041959 {source="MEDGEN:21777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0000056 ! ureter

[Term]
id: MONDO:0021962
name: baetz-greenwalt syndrome
synonym: "hypoplastic right-sided heart complex" RELATED [GARD:0009216, MESH:C537795]
xref: MEDGEN:444099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537795 {source="MONDO:equivalentTo"}
xref: UMLS:C2931615 {source="MEDGEN:444099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_feature MONDO:0016064 {source="MESH:C537795"} ! cleft palate
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9216/baetz-greenwalt-syndrome" xsd:anyURI {source="GARD:0009216"}

[Term]
id: MONDO:0021964
name: bagatelle Cassidy syndrome
subset: gard_rare {source="GARD:398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "macrocephaly short limbs deafness" RELATED [GARD:0000398, MESH:C537796]
synonym: "macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay" RELATED [GARD:0000398, MESH:C537796]
xref: GARD:398 {source="MONDO:GARD"}
xref: MEDGEN:444100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537796 {source="MONDO:equivalentTo"}
xref: UMLS:C2931616 {source="MEDGEN:444100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0005287 {source="MESH:C537796"} ! developmental disability
is_a: MONDO:0016608 {source="MESH:C537796"} ! megalencephaly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome" xsd:anyURI {source="GARD:0000398"}

[Term]
id: MONDO:0021966
name: baker Vinters syndrome
def: "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:6730919]
subset: n_of_one
synonym: "hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies" RELATED [GARD:0000808, MESH:C537899]
xref: MEDGEN:419861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537899 {source="MONDO:equivalentTo"}
xref: UMLS:C2931659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419861"}
is_a: MONDO:0001150 {source="MESH:C537899"} ! hydrocephalus
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/808/baker-vinters-syndrome" xsd:anyURI {source="GARD:0000808"}

[Term]
id: MONDO:0021969
name: obsolete Banti syndrome
xref: NANDO:1200438 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7147" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0037251

[Term]
id: MONDO:0021971
name: obsolete Baraitser Rodeck garner syndrome
is_obsolete: true
replaced_by: MONDO:0009041

[Term]
id: MONDO:0021977
name: basaloid follicular hamartoma
def: "A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy." [NCIT:C4749]
synonym: "basal cell nevus with comedones" EXACT []
synonym: "basaloid follicular hamartoma" EXACT []
xref: ICD9:706.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4749 {source="MONDO:equivalentTo"}
xref: SCTID:254705003 {source="MONDO:equivalentTo"}
xref: UMLS:C0474964 {source="MEDGEN:96887", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="NCIT:C4749/inferred"} ! hamartoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2354/basaloid-follicular-hamartoma" xsd:anyURI {source="GARD:0002354"}

[Term]
id: MONDO:0021979
name: Basaran Yilmaz syndrome
def: "A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region." [https://orcid.org/0000-0001-5208-3432, PMID:7577599]
synonym: "keratoderma, hypotrichosis and leukonychia totalis" RELATED [GARD:0000833, MESH:C537660]
xref: MEDGEN:419444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537660 {source="MONDO:equivalentTo"}
xref: UMLS:C2931577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419444"}
is_a: MONDO:0002884 {source="MESH:C537660"} ! nail disorder
is_a: MONDO:0003037 {source="MESH:C537660"} ! hypotrichosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome" xsd:anyURI {source="GARD:0000833"}

[Term]
id: MONDO:0021994
name: Berk-Tabatznik syndrome
subset: gard_rare {source="GARD:5109", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Berk Tabatznik syndrome" RELATED [MESH:C535432]
synonym: "cleft nare, brachydactyly, short stature dwarfism" RELATED [GARD:0005109]
synonym: "cleft nare, brachydactyly, short stature-dwarfism" RELATED [MESH:C535432]
synonym: "congenital optic atrophy and brachytelephalangy" RELATED [GARD:0005109, MESH:C535432]
synonym: "kyphosis brachyphalangy optic atrophy" RELATED [GARD:0005109, MESH:C535432]
synonym: "short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges" RELATED [GARD:0005109]
xref: GARD:5109 {source="MONDO:GARD"}
xref: MEDGEN:443928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535432 {source="MONDO:equivalentTo"}
xref: Orphanet:1559 {source="GARD:0005109"}
xref: UMLS:C2930899 {source="MEDGEN:443928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021004 {source="MESH:C535432"} ! brachydactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome" xsd:anyURI {source="GARD:0005109"}

[Term]
id: MONDO:0022007
name: water intoxication
def: "A condition resulting from the excessive retention of water with sodium depletion." [MESH:D014869]
synonym: "WATER INTOX" RELATED [MESH:D014869]
synonym: "Water Intoxication" RELATED [MESH:D014869]
synonym: "Water intoxication" RELATED [UMLS:C0043049]
synonym: "Water intoxication syndrome" RELATED [UMLS:C0043049]
synonym: "water intoxication syndrome" EXACT []
xref: MEDGEN:53061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014869 {source="MONDO:equivalentTo", source="UMLS:C0043049"}
xref: SCTID:71785001 {source="MONDO:equivalentTo", source="UMLS:C0043049"}
xref: UMLS:C0043049 {source="MONDO:equivalentTo", source="MEDGEN:53061", source="MONDO:MEDGEN"}
is_a: MONDO:0029000 {source="MESH:D014869"} ! poisoning

[Term]
id: MONDO:0022011
name: bobble-head doll syndrome
def: "Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain." [GARD:0009731]
synonym: "BHDS" RELATED ABBREVIATION [GARD:0009731]
synonym: "bobble head doll syndrome" RELATED [GARD:0009731, MESH:C536241]
xref: MEDGEN:443985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536241 {source="MONDO:equivalentTo"}
xref: UMLS:C2931137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443985"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_feature MONDO:0008813 {source="MESH:C536241"} ! arachnoid cyst
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9731/bobble-head-doll-syndrome" xsd:anyURI {source="GARD:0009731"}

[Term]
id: MONDO:0022013
name: Boerhaave syndrome
def: "A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part." [https://orcid.org/0000-0001-5208-3432, PMID:27982294]
synonym: "Boerhaave syndrome" EXACT []
synonym: "Boerhaave's syndrome" RELATED [GARD:0009261, MESH:C536571]
synonym: "boerhaave's syndrome" RELATED []
synonym: "Boerhave syndrome" RELATED [GARD:0009261, MESH:C536571]
synonym: "spontaneous esophageal perforation" RELATED []
synonym: "spontaneous perforation of esophagus" RELATED []
synonym: "spontaneous perforation of oesophagus" RELATED OMO:0003005 []
synonym: "spontaneous perforation of the esophagus" RELATED [GARD:0009261]
synonym: "spontaneous perforation of the oesophagus" RELATED OMO:0003005 []
synonym: "spontaneous rupture of esophagus" EXACT []
synonym: "spontaneous rupture of oesophagus" EXACT OMO:0003005 []
synonym: "spontaneous rupture of the esophagus" RELATED [GARD:0009261]
synonym: "spontaneous rupture of the oesophagus" RELATED OMO:0003005 []
xref: MEDGEN:65948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536571 {source="MONDO:equivalentTo"}
xref: SCTID:19995004 {source="MONDO:equivalentTo"}
xref: UMLS:C0238115 {source="MEDGEN:65948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9261/boerhaave-syndrome" xsd:anyURI {source="GARD:0009261"}

[Term]
id: MONDO:0022018
name: obsolete Borrone di Rocco Crovato syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5000" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009579

[Term]
id: MONDO:0022020
name: Boudhina Yedes Khiari syndrome
def: "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions" [GARD:0000945]
xref: MEDGEN:419467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537939 {source="MONDO:equivalentTo"}
xref: UMLS:C2931668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419467"}
is_a: MONDO:0005093 {source="MESH:C537939"} ! skin disorder
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537939", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/945/boudhina-yedes-khiari-syndrome" xsd:anyURI {source="GARD:0000945"}

[Term]
id: MONDO:0022022
name: bowenoid papulosis
def: "Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported." [NCIT:C8374]
subset: gard_rare {source="GARD:5951", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:870"}
subset: rare
synonym: "Bowenoid papulosis" EXACT [NCIT:C8374]
synonym: "bowenoid papulosis" EXACT []
synonym: "BP" RELATED ABBREVIATION [GARD:0005951]
xref: GARD:5951 {source="MONDO:GARD"}
xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:137721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8374 {source="MONDO:equivalentTo"}
xref: NORD:870 {source="MONDO:NORD"}
xref: SCTID:402913004 {source="MONDO:equivalentTo"}
xref: UMLS:C0334106 {source="MONDO:equivalentTo", source="MEDGEN:137721", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="NCIT:C8374/inferred"} ! neoplasm
relationship: disease_arises_from_feature MONDO:0005161 {source="NCIT:C8374"} ! human papilloma virus infection
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis" xsd:anyURI {source="GARD:0005951"}

[Term]
id: MONDO:0022025
name: boylan dew greco syndrome
subset: gard_rare {source="GARD:954", source="MONDO:GARD"}
subset: rare
synonym: "congenital hypomyelination neuropathy with arthrogryposis multiplex congenita" RELATED [GARD:0000954, MESH:C537083]
xref: GARD:954 {source="MONDO:GARD"}
xref: MEDGEN:419407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537083 {source="MONDO:equivalentTo"}
xref: UMLS:C2931419 {source="MEDGEN:419407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002562 {source="MESH:C537083"} ! demyelinating disease
is_a: MONDO:0008779 {source="MESH:C537083"} ! arthrogryposis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome" xsd:anyURI {source="GARD:0000954"}

[Term]
id: MONDO:0022034
name: lentivirus infection
def: "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." [MESH:D016180]
subset: otar {source="MONDO:OTAR"}
synonym: "Disease caused by Lentivirus" RELATED [UMLS:C0079680]
synonym: "Disease due to Lentivirus" RELATED [UMLS:C0079680]
synonym: "Infection, Lentivirus" RELATED [MESH:D016180]
synonym: "Infections, Lentivirus" RELATED [MESH:D016180]
synonym: "Lentivirus Infection" RELATED [MESH:D016180]
synonym: "Lentivirus Infections" RELATED [MESH:D016180]
xref: EFO:1001357 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:38233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016180 {source="UMLS:C0079680", source="MONDO:equivalentTo"}
xref: SCTID:24907000 {source="UMLS:C0079680"}
xref: UMLS:C0079680 {source="MONDO:equivalentTo", source="MEDGEN:38233", source="MONDO:MEDGEN"}
is_a: MONDO:0005108 ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11646 ! disease has primary infectious agent Lentivirus
relationship: excluded_subClassOf MONDO:0006485 {source="MESH:D016180", source="https://orcid.org/0000-0001-5208-3432"} ! uterine carcinosarcoma

[Term]
id: MONDO:0022037
name: large-cell immunoblastic lymphoma
def: "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan." [MESH:D016400]
subset: gard_rare {source="GARD:8219", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Diffuse Immunoblastic Lymphosarcoma" RELATED [MESH:D016400]
synonym: "Diffuse Immunoblastic Lymphosarcomas" RELATED [MESH:D016400]
synonym: "Diffuse non-Hodgkin lymphoma, immunoblastic" RELATED [UMLS:C0079746]
synonym: "Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma" RELATED [UMLS:C0079746]
synonym: "Diffuse non-Hodgkin's lymphoma, immunoblastic" RELATED [UMLS:C0079746]
synonym: "Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)" RELATED [UMLS:C0079746]
synonym: "Immunoblastic Large Cell Lymphoma" RELATED [MESH:D016400]
synonym: "IMMUNOBLASTIC LARGE LYMPHOMA" RELATED [MESH:D016400]
synonym: "Immunoblastic Large-Cell Lymphoma" RELATED [MESH:D016400]
synonym: "Immunoblastic Large-Cell Lymphomas" RELATED [MESH:D016400]
synonym: "Immunoblastic Lymphoma" RELATED [NCIT:C3461]
synonym: "Immunoblastic Lymphoma, Large-Cell" RELATED [MESH:D016400]
synonym: "Immunoblastic Lymphomas, Large-Cell" RELATED [MESH:D016400]
synonym: "Immunoblastic Lymphosarcoma, Diffuse" RELATED [MESH:D016400]
synonym: "Immunoblastic Lymphosarcomas, Diffuse" RELATED [MESH:D016400]
synonym: "Immunoblastic malignant lymphoma - large cell" RELATED [UMLS:C0079746]
synonym: "Immunoblastic Sarcoma" RELATED [MESH:D016400]
synonym: "Immunoblastic Sarcomas" RELATED [MESH:D016400]
synonym: "Immunoblastoma" RELATED [MESH:D016400]
synonym: "Immunoblastomas" RELATED [MESH:D016400]
synonym: "Large Cell Immunoblastic Lymphoma" RELATED [MESH:D016400]
synonym: "Large cell immunoblastic lymphoma" RELATED [GARD:0008219]
synonym: "LARGE IMMUNOBLASTIC LYMPHOMA" RELATED [MESH:D016400]
synonym: "Large-Cell Immunoblastic Lymphoma" RELATED [MESH:D016400]
synonym: "Large-Cell Immunoblastic Lymphomas" RELATED [MESH:D016400]
synonym: "Large-Cell Lymphoma, Immunoblastic" RELATED [MESH:D016400]
synonym: "Large-Cell Lymphomas, Immunoblastic" RELATED [MESH:D016400]
synonym: "LYMPHOMA IMMUNOBLASTIC LARGE" RELATED [MESH:D016400]
synonym: "LYMPHOMA LARGE IMMUNOBLASTIC" RELATED [MESH:D016400]
synonym: "Lymphoma, Immunoblastic Large-Cell" RELATED [MESH:D016400]
synonym: "Lymphoma, immunoblastic, high grade" RELATED [UMLS:C0079746]
synonym: "Lymphoma, Immunoblastic, Large Cell" RELATED [MESH:D016400]
synonym: "Lymphoma, Immunoblastic, Large-Cell" RELATED [MESH:D016400]
synonym: "Lymphoma, Large Cell, Immunoblastic" RELATED [MESH:D016400]
synonym: "Lymphoma, Large-Cell Immunoblastic" RELATED [MESH:D016400]
synonym: "Lymphoma, Large-Cell, Immunoblastic" RELATED [MESH:D016400]
synonym: "Lymphomas, Immunoblastic Large-Cell" RELATED [MESH:D016400]
synonym: "Lymphomas, Large-Cell Immunoblastic" RELATED [MESH:D016400]
synonym: "Lymphosarcoma, Diffuse Immunoblastic" RELATED [MESH:D016400]
synonym: "Lymphosarcomas, Diffuse Immunoblastic" RELATED [MESH:D016400]
synonym: "Malignant lymphoma - immunoblastic" RELATED [UMLS:C0079746]
synonym: "Sarcoma, Immunoblastic" RELATED [MESH:D016400]
synonym: "Sarcomas, Immunoblastic" RELATED [MESH:D016400]
xref: GARD:8219 {source="MONDO:GARD"}
xref: MEDGEN:86955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016400 {source="MONDO:equivalentTo", source="UMLS:C0079746"}
xref: NCIT:C3461 {source="UMLS:C0079746"}
xref: SCTID:109966003 {source="UMLS:C0079746"}
xref: UMLS:C0079746 {source="MEDGEN:86955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018908 {source="MESH:D016400", source="UMLS:C0079746"} ! non-Hodgkin lymphoma
relationship: has_characteristic MONDO:0021136 {source="GARD:0008219"} ! rare

[Term]
id: MONDO:0022055
name: Calabro syndrome
subset: gard_rare {source="GARD:8584", source="MONDO:GARD"}
subset: rare
synonym: "craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects" RELATED [GARD:0008584]
xref: GARD:8584 {source="MONDO:GARD"}
xref: MEDGEN:163240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537960 {source="MONDO:equivalentTo"}
xref: UMLS:C0796276 {source="MEDGEN:163240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001029 {source="MESH:C537960"} ! Klippel-Feil syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome" xsd:anyURI {source="GARD:0008584"}

[Term]
id: MONDO:0022057
name: calcifying epithelial odontogenic tumor
def: "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases." [NCIT:C54301]
subset: otar {source="MONDO:OTAR"}
synonym: "calcifying epithelial odontogenic tumor" EXACT [NCIT:C54301]
synonym: "CEOT" RELATED ABBREVIATION [GARD:0006256]
synonym: "Pindborg tumor" EXACT [GARD:0006256, MESH:C537961, NCIT:C54301]
synonym: "Pindborg tumour" EXACT OMO:0003005 []
xref: ICDO:9340/0 {source="NCIT:C54301"}
xref: MEDGEN:87266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537961 {source="MONDO:equivalentTo"}
xref: NCIT:C54301 {source="MONDO:equivalentTo"}
xref: UMLS:C0334574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87266"}
is_a: MONDO:0002531 {source="MESH:C537961"} ! skin neoplasm
is_a: MONDO:0021192 {source="MESH:C537961", source="NCIT:C54301"} ! odontogenic neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor" xsd:anyURI {source="GARD:0006256"}

[Term]
id: MONDO:0022060
name: calloso-genital dysplasia
synonym: "primary amenorrhoea with coloboma and total agenesis of the corpus callosum" RELATED [GARD:0001055, MESH:C537962]
xref: MEDGEN:419867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537962 {source="MONDO:equivalentTo"}
xref: UMLS:C2931677 {source="MEDGEN:419867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001476 {source="MESH:C537962"} ! coloboma
is_a: MONDO:0001836 {source="MESH:C537962"} ! amenorrhea
is_a: MONDO:0009022 {source="MESH:C537962"} ! corpus callosum, agenesis of
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1055/calloso-genital-dysplasia" xsd:anyURI {source="GARD:0001055"}

[Term]
id: MONDO:0022067
name: Cantu Sanchez-Corona Fragoso syndrome
synonym: "severe mental deficiency proportionate dwarfism and delayed sexual maturation" RELATED [GARD:0001081]
synonym: "severe mental deficiency, proportionate dwarfism, and delayed sexual maturation" RELATED [MESH:C535571]
xref: MEDGEN:419290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535571 {source="MONDO:equivalentTo"}
xref: UMLS:C2930937 {source="MEDGEN:419290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C535571", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1081/cantu-sanchez-corona-fragoso-syndrome" xsd:anyURI {source="GARD:0001081"}

[Term]
id: MONDO:0022070
name: Cantu Sanchez-Corona Hernandez syndrome
def: "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies" [GARD:0001083]
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome" xsd:anyURI {source="GARD:0001083"}

[Term]
id: MONDO:0022071
name: carbon baby syndrome
def: "Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown." [GARD:0001089]
synonym: "universal acquired melanosis" RELATED [GARD:0001089]
xref: MEDGEN:98349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238700008 {source="MONDO:equivalentTo"}
xref: UMLS:C0406419 {source="MEDGEN:98349", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1089/carbon-baby-syndrome" xsd:anyURI {source="GARD:0001089"}

[Term]
id: MONDO:0022089
name: Carnevale hernandez castillo syndrome
synonym: "Triphalyngeal thumbs and brachyectrodactyly" RELATED [GARD:0001117, MESH:C535585]
xref: MEDGEN:419672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535585 {source="MONDO:equivalentTo"}
xref: UMLS:C2930940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419672"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1117/carnevale-hernandez-castillo-syndrome" xsd:anyURI {source="GARD:0001117"}

[Term]
id: MONDO:0022094
name: Cartwright Nelson Fryns syndrome
synonym: "Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails" RELATED [GARD:0001132]
synonym: "Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails" RELATED DEPRECATED [GARD:0001132]
xref: MEDGEN:443968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535917 {source="MONDO:equivalentTo"}
xref: UMLS:C2931062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443968"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C535917", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1132/cartwright-nelson-fryns-syndrome" xsd:anyURI {source="GARD:0001132"}

[Term]
id: MONDO:0022096
name: pyogenic granuloma
def: "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." [MESH:D017789]
subset: otar {source="MONDO:OTAR"}
synonym: "angiogranuloma" RELATED [MESH:D017789]
synonym: "angiogranulomas" RELATED [MESH:D017789]
synonym: "Capillary hemangioma of granulation tissue type" RELATED [UMLS:C0085653]
synonym: "Capillary Hemangioma, Lobular" RELATED [MESH:D017789]
synonym: "Granulation Tissue-Type Hemangioma" RELATED [NCIT:C3480]
synonym: "Granuloma Pyogenicum" RELATED [MESH:D017789, NCIT:C3480]
synonym: "Granuloma pyogenicum" RELATED [UMLS:C0085653]
synonym: "Granuloma telangiectaticum" RELATED [UMLS:C0085653]
synonym: "Granuloma Telangiecticum" RELATED [MESH:D017789, NCIT:C3480]
synonym: "Granuloma, Pyogenic" RELATED [MESH:D017789]
synonym: "Granulomata Pyogenicum" RELATED [NCIT:C3480]
synonym: "hemangioma, Lobular Capillary" RELATED [MESH:D017789]
synonym: "hemangiomatous Granulation Tissue" RELATED [NCIT:C3480]
synonym: "Lobular Capillary Hemangioma" RELATED [MESH:D017789]
synonym: "Lobular capillary hemangioma" RELATED [GARD:0010963, UMLS:C0085653]
synonym: "Lobular Hemangioma" RELATED [NCIT:C3480]
synonym: "PG - Pyogenic granuloma" RELATED [UMLS:C0085653]
synonym: "Pyogenic Granuloma" RELATED [MESH:D017789, NCIT:C3480]
xref: MEDGEN:39085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017789 {source="MONDO:equivalentTo", source="UMLS:C0085653"}
xref: NCIT:C3480 {source="UMLS:C0085653"}
xref: SCTID:17372009 {source="UMLS:C0085653"}
xref: SCTID:200722003 {source="MONDO:equivalentTo", source="UMLS:C0085653"}
xref: SCTID:39629007 {source="UMLS:C0085653"}
xref: UMLS:C0085653 {source="MEDGEN:39085", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002407 {source="UMLS:C0085653"} ! capillary hemangioma

[Term]
id: MONDO:0022098
name: catamenial pneumothorax
def: "Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery." [GARD:0009858]
synonym: "catamenial pneumothorax" EXACT []
synonym: "premenstrual pneumothorax" RELATED []
xref: MEDGEN:83298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538279 {source="MONDO:equivalentTo"}
xref: SCTID:233642001 {source="MONDO:equivalentTo"}
xref: UMLS:C0340007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83298"}
is_a: MONDO:0002076 {source="MESH:C538279"} ! pneumothorax
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9858/catamenial-pneumothorax" xsd:anyURI {source="GARD:0009858"}

[Term]
id: MONDO:0022103
name: chronic prostatitis
def: "An infectious or non-infectious chronic inflammatory process that affects the prostate gland." [NCIT:C26930]
synonym: "Chronic Prostatitis" RELATED [NCIT:C26930]
synonym: "Chronic prostatitis" RELATED [UMLS:C0085696]
synonym: "chronic prostatitis" EXACT [NCIT:C26930]
xref: ICD9:601.1
xref: MEDGEN:88454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26930 {source="MONDO:equivalentTo", source="UMLS:C0085696"}
xref: SCTID:19905009 {source="MONDO:equivalentTo", source="UMLS:C0085696"}
xref: UMLS:C0085696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88454"}
is_a: MONDO:0005280 {source="NCIT:C26930", source="UMLS:C0085696"} ! prostatitis
intersection_of: MONDO:0005280 ! prostatitis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0022109
name: obsolete catatrichy
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "forelock" RELATED [GARD:0010080, MESH:C535346]
xref: MESH:C535346 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:116850 {source="MONDO:obsoleteEquivalent", source="GARD:0010080"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10080/catatrichy" xsd:anyURI {source="GARD:0010080"}
is_obsolete: true

[Term]
id: MONDO:0022113
name: central centrifugal cicatricial alopecia
subset: gard_rare {source="GARD:10826", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CCCA" RELATED ABBREVIATION [OMIM:618352]
synonym: "central centrifugal alopecia" RELATED [GARD:0010826]
synonym: "CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA" RELATED [OMIM:618352]
synonym: "central centrifugal cicatricial alopecia" EXACT []
synonym: "hot comb alopecia" RELATED []
xref: GARD:10826 {source="MONDO:GARD"}
xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:698033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618352 {source="MONDO:equivalentTo"}
xref: SCTID:109441000119102 {source="MONDO:equivalentTo"}
xref: UMLS:C1274708 {source="MEDGEN:698033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618352"} ! hereditary disease
is_a: MONDO:0004907 {source="https://orcid.org/0000-0001-5208-3432"} ! alopecia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia" xsd:anyURI {source="GARD:0010826"}

[Term]
id: MONDO:0022140
name: Charles bonnet syndrome
def: "Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized." [GARD:0010343]
synonym: "CBS" RELATED ABBREVIATION [GARD:0010343]
synonym: "charles bonnet syndrome" EXACT []
xref: MEDGEN:137926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000075562 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: SCTID:193756007 {source="MONDO:equivalentTo"}
xref: UMLS:C0339731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137926"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10343/charles-bonnet-syndrome" xsd:anyURI {source="GARD:0010343"}

[Term]
id: MONDO:0022145
name: obsolete Chiari malformation type II
is_obsolete: true
replaced_by: MONDO:0008816

[Term]
id: MONDO:0022151
name: Chitty Hall Webb syndrome
synonym: "bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay" RELATED [GARD:0001277]
xref: MEDGEN:418975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535929 {source="MONDO:equivalentTo"}
xref: SCTID:725103004 {source="MONDO:equivalentTo"}
xref: UMLS:C2931066 {source="MEDGEN:418975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005287 {source="MESH:C535929"} ! developmental disability
relationship: disease_has_feature MONDO:0005315 {source="MESH:C535929", source="https://github.com/monarch-initiative/mondo/issues/499"} ! bone fracture
relationship: excluded_subClassOf MONDO:0005315 {source="MESH:C535929", source="https://orcid.org/0000-0001-5208-3432"} ! bone fracture
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1277/chitty-hall-webb-syndrome" xsd:anyURI {source="GARD:0001277"}

[Term]
id: MONDO:0022171
name: chromhidrosis
def: "A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms." [Wikipedia:Chromhidrosis]
synonym: "chromhidrosis" EXACT []
synonym: "secretion of colored sweat" RELATED []
synonym: "secretion of coloured sweat" RELATED OMO:0003005 []
xref: ICD10CM:L75.1 {source="MONDO:equivalentTo"}
xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:26147006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263473 {source="MONDO:equivalentTo", source="MEDGEN:82667", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MONDO:Redundant"} ! skin disorder
is_a: MONDO:0006615 {source="MONDO:Redundant"} ! sweat gland disorder
is_a: MONDO:0024467 {source="ICD10CM:L75.1", source="MONDO:Entailed", source="MONDO:Redundant"} ! apocrine sweat gland disorder
relationship: disease_has_location UBERON:0000382 {comment="typical"} ! apocrine sweat gland
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10749/chromhidrosis" xsd:anyURI {source="GARD:0010749"}

[Term]
id: MONDO:0022173
name: chromosome 11q trisomy
subset: disease_grouping
subset: gard_rare {source="GARD:20882", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262923"}
subset: rare
synonym: "11q duplication" EXACT [GARD:0001923]
synonym: "11q trisomy" EXACT [GARD:0001923]
synonym: "chromosome 11q duplication" EXACT [GARD:0001923]
synonym: "Duplication 11q" EXACT [GARD:0001923, MESH:C538297]
synonym: "partial duplication of chromosome 11q" EXACT [Orphanet:262923]
synonym: "partial duplication of the long arm of chromosome 11" EXACT [MONDO:0016962]
synonym: "partial duplication of the long arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262923]
synonym: "partial trisomy 11q" EXACT [GARD:0001923]
synonym: "partial trisomy of chromosome 11q" EXACT [Orphanet:262923]
synonym: "partial trisomy of the long arm of chromosome 11" EXACT [Orphanet:262923]
synonym: "trisomy 11q" EXACT [GARD:0001923, MESH:C538297]
xref: GARD:20882 {source="MONDO:GARD"}
xref: MEDGEN:167075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538297 {source="MONDO:equivalentTo"}
xref: Orphanet:262923 {source="MONDO:equivalentTo"}
xref: UMLS:C0795842 {source="MEDGEN:167075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016932 {source="Orphanet:262923"} ! partial duplication of chromosome 11
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr11q ! 11q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4278" xsd:anyURI

[Term]
id: MONDO:0022174
name: chromosome 12p deletion
def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." [NCIT:C36410]
subset: disease_grouping
subset: gard_rare {source="GARD:21404", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:316244"}
subset: rare
synonym: "12p del" RELATED [NCIT:C36410]
synonym: "12p deletion" RELATED [GARD:0006068]
synonym: "12p monosomy" RELATED [GARD:0006068]
synonym: "12p-" RELATED [NCIT:C36410]
synonym: "del(12p)" RELATED [NCIT:C36410]
synonym: "deletion 12p" RELATED [GARD:0006068, MESH:C538301]
synonym: "loss of chromosome 12p" RELATED [NCIT:C36410]
synonym: "monosomy 12p" RELATED [GARD:0006068, MESH:C538301]
synonym: "partial deletion of chromosome 12p" EXACT [Orphanet:316244]
synonym: "partial deletion of the short arm of chromosome 12" EXACT [MONDO:0017848]
synonym: "partial deletion of the short arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:316244]
synonym: "partial monosomy 12p" RELATED [GARD:0006068]
synonym: "partial monosomy of chromosome 12p" EXACT [Orphanet:316244]
synonym: "partial monosomy of the short arm of chromosome 12" EXACT [Orphanet:316244]
xref: GARD:21404 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:316244/attributed", source="Orphanet:316244/ntbt", source="Orphanet:316244"}
xref: MEDGEN:208640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538301 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MESH:C538302 {source="MONDO:equivalentTo"}
xref: NCIT:C36410 {source="MONDO:relatedTo"}
xref: Orphanet:316244 {source="MONDO:equivalentTo"}
xref: UMLS:C0795844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208640"}
is_a: MONDO:0017277 {source="Orphanet:316244"} ! partial deletion of chromosome 12
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr12p ! 12p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion" xsd:anyURI {source="GARD:0006068"}

[Term]
id: MONDO:0022177
name: chromosome 13q trisomy
subset: disease_grouping
subset: gard_rare {source="GARD:20883", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:262932"}
subset: rare
synonym: "13q duplication" EXACT [GARD:0001929]
synonym: "13q trisomy" EXACT [GARD:0001929]
synonym: "chromosome 13q duplication" EXACT [GARD:0001929]
synonym: "Duplication 13q" EXACT [GARD:0001929, MESH:C535485]
synonym: "partial duplication of chromosome 13q" EXACT [Orphanet:262932]
synonym: "partial duplication of the long arm of chromosome 13" EXACT [MONDO:0016963]
synonym: "partial duplication of the long arm of chromosome type 13" EXACT [MONDORULE:2, Orphanet:262932]
synonym: "partial trisomy 13q" EXACT [GARD:0001929]
synonym: "partial trisomy of chromosome 13q" EXACT [Orphanet:262932]
synonym: "partial trisomy of the long arm of chromosome 13" EXACT [Orphanet:262932]
synonym: "trisomy 13q" EXACT [GARD:0001929, MESH:C535485]
xref: GARD:20883 {source="MONDO:GARD"}
xref: MEDGEN:162780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535485 {source="MONDO:equivalentTo"}
xref: Orphanet:262932 {source="MONDO:equivalentTo"}
xref: UMLS:C0795849 {source="MEDGEN:162780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder
is_a: MONDO:0700020 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 13 disorder
is_a: MONDO:0700029 {source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of chromosome 13
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr13q ! 13q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4278" xsd:anyURI

[Term]
id: MONDO:0022178
name: chromosome 13q-mosaicism
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Mosiacism of chromosome 13q" RELATED [MESH:C535486]
xref: MEDGEN:443931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535486 {source="MONDO:equivalentTo"}
xref: UMLS:C2930915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443931"}
is_a: MONDO:0019040 {source="MESH:C535486"} ! chromosomal disorder
is_a: MONDO:0700020 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 13 disorder
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0022180
name: chromosome 16 trisomy
subset: gard_rare {source="GARD:7060", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mosaic trisomy 16" RELATED [GARD:0007060]
synonym: "trisomy 16" RELATED [GARD:0007060]
synonym: "trisomy chromosome 16" RELATED [GARD:0007060]
xref: GARD:7060 {source="MONDO:GARD"}
xref: MEDGEN:276900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37866 {source="MONDO:relatedTo"}
xref: UMLS:C1519651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276900"}
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy" xsd:anyURI {source="GARD:0007060"}

[Term]
id: MONDO:0022196
name: chronic erosive gastritis
synonym: "ceg - chronic erosive gastritis" RELATED []
synonym: "chronic erosive gastritis" EXACT []
synonym: "diffuse varioliform gastritis" RELATED []
synonym: "idiopathic chronic, erosive gastritis" RELATED [GARD:0006099]
synonym: "varioliform gastritis" RELATED [GARD:0006099]
xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:63137003 {source="MONDO:equivalentTo"}
xref: UMLS:C0267145 {source="MEDGEN:78626", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004966 {source="https://orcid.org/0000-0001-5208-3432"} ! gastritis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6099/chronic-erosive-gastritis" xsd:anyURI {source="GARD:0006099"}

[Term]
id: MONDO:0022200
name: obsolete treatment for disease
comment: This modifier will be obsoleted in favor of MAO. Reason: out of scope. Term to consider: MAXO:0000002.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3981" xsd:anyURI
is_obsolete: true
consider: MAXO:0000002

[Term]
id: MONDO:0022201
name: obsolete has treatment by surgery
comment: Reason: out of scope. Term to consider: MAXO:0000004.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo-build/issues/75" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3981" xsd:anyURI
is_obsolete: true
consider: MAXO:0000004

[Term]
id: MONDO:0022202
name: disseminated
is_a: MONDO:0045040 ! locational disease characteristic

[Term]
id: MONDO:0022205
name: pustular psoriasis
synonym: "Pustular psoriasis" RELATED [UMLS:C0152081]
synonym: "pustular psoriasis" EXACT []
xref: ICD9:696.1
xref: MEDGEN:508876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200240 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100285 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201001 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:200973000 {source="UMLS:C0152081", source="MONDO:equivalentTo"}
xref: UMLS:C0152081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508876"}
is_a: MONDO:0005083 {source="https://orcid.org/0000-0001-5208-3432"} ! psoriasis
relationship: has_characteristic MONDO:0021136 {source="GARD:0012813"} ! rare

[Term]
id: MONDO:0022208
name: crystal arthropathy
subset: otar {source="MONDO:OTAR"}
synonym: "Arthritides, Crystal" RELATED [MESH:D000070657]
synonym: "Arthritides, Crystalline" RELATED [MESH:D000070657]
synonym: "Arthritis, Crystal" RELATED [MESH:D000070657]
synonym: "Arthritis, Crystalline" RELATED [MESH:D000070657]
synonym: "Arthropathies, Crystal" RELATED [MESH:D000070657]
synonym: "Arthropathies, Crystalline" RELATED [MESH:D000070657]
synonym: "Arthropathy, Crystal" RELATED [MESH:D000070657]
synonym: "Arthropathy, Crystalline" RELATED [MESH:D000070657]
synonym: "Crystal Arthritides" RELATED [MESH:D000070657]
synonym: "Crystal Arthritis" RELATED [MESH:D000070657]
synonym: "Crystal Arthropathies" RELATED [MESH:D000070657]
synonym: "Crystal Arthropathy" RELATED [MESH:D000070657]
synonym: "Crystal arthropathy" RELATED [UMLS:C0152087]
synonym: "crystal arthropathy" EXACT []
synonym: "Crystal-induced arthritis AND/OR synovitis" RELATED [UMLS:C0152087]
synonym: "crystal-induced arthritis and/or synovitis" RELATED []
synonym: "Crystal-related arthropathy and periarthropathy" RELATED [UMLS:C0152087]
synonym: "crystal-related arthropathy and periarthropathy" RELATED []
synonym: "Crystalline Arthritides" RELATED [MESH:D000070657]
synonym: "Crystalline Arthritis" RELATED [MESH:D000070657]
synonym: "Crystalline arthritis" RELATED [UMLS:C0152087]
synonym: "crystalline arthritis" RELATED []
synonym: "Crystalline Arthropathies" RELATED [MESH:D000070657]
synonym: "Crystalline Arthropathy" RELATED [MESH:D000070657]
xref: ICD9:712 {source="GARD:0012802"}
xref: ICD9:712.80
xref: ICD9:712.88
xref: ICD9:712.90
xref: ICD9:712.98
xref: MEDGEN:508879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000070657 {source="UMLS:C0152087"}
xref: SCTID:18834007 {source="MONDO:equivalentTo", source="UMLS:C0152087"}
xref: UMLS:C0152087 {source="MEDGEN:508879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006816 {source="UMLS:C0152087"} ! arthropathy

[Term]
id: MONDO:0022220
name: Parinaud syndrome
def: "A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause." [NCIT:C54102]
synonym: "dorsal midbrain syndrome" RELATED [NCIT:C54102, UMLS:C0152222]
synonym: "paralysis of vertical movement" RELATED [UMLS:C0152222]
synonym: "Parinaud syndrome" EXACT [MESH:D015835, NCIT:C54102, UMLS:C0152222]
synonym: "Parinaud's ophthalmoplegia" RELATED [UMLS:C0152222]
synonym: "Parinaud's syndrome" EXACT [MESH:D015835, UMLS:C0152222]
synonym: "Parinauds syndrome" EXACT [MESH:D015835]
synonym: "syndrome, Parinaud" EXACT [MESH:D015835]
synonym: "syndrome, Parinaud's" EXACT [MESH:D015835]
synonym: "vertical gaze palsy - Parinaud" RELATED [UMLS:C0152222]
xref: MEDGEN:57754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015835 {source="UMLS:C0152222"}
xref: NCIT:C54102 {source="MONDO:equivalentTo", source="UMLS:C0152222"}
xref: SCTID:37991008 {source="MONDO:equivalentTo", source="UMLS:C0152222"}
xref: UMLS:C0152222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57754"}
is_a: MONDO:0002254 {source="NCIT:C54102", source="UMLS:C0152222"} ! syndromic disease

[Term]
id: MONDO:0022236
name: colpocephaly
alt_id: MONDO:0022808
def: "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken." [GARD:0010008]
xref: MEDGEN:98131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535973 {source="MONDO:equivalentTo"}
xref: SCTID:253160006 {source="MONDO:equivalentTo"}
xref: UMLS:C0431384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98131"}
is_a: MONDO:0005560 {source="MESH:C535973"} ! brain disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10008/colpocephaly" xsd:anyURI {source="GARD:0010008"}

[Term]
id: MONDO:0022263
name: obsolete congenital hepatic fibrosis
alt_id: MONDO:0022266
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/399" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018840

[Term]
id: MONDO:0022293
name: vascular disorder of penis
def: "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma." [NCIT:C35218]
synonym: "Penile Vascular Disorder" RELATED [NCIT:C35218]
synonym: "Penile vascular disorder" RELATED [UMLS:C0156307]
synonym: "penile vascular disorder" EXACT [NCIT:C35218]
synonym: "Penis vascular disorder" RELATED [UMLS:C0156307]
synonym: "Vascular disorder of penis" RELATED [UMLS:C0156307]
xref: ICD9:607.82
xref: MEDGEN:102349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35218 {source="MONDO:equivalentTo", source="UMLS:C0156307"}
xref: SCTID:198029003 {source="MONDO:equivalentTo", source="UMLS:C0156307"}
xref: UMLS:C0156307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102349"}
is_a: MONDO:0002036 {source="NCIT:C35218", source="UMLS:C0156307"} ! penile disorder
is_a: MONDO:0005385 {source="NCIT:C35218", source="UMLS:C0156307"} ! vascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0036269 ! penis blood vessel

[Term]
id: MONDO:0022308
name: corticobasal degeneration disorder
def: "A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment." [NCIT:C129069]
synonym: "CBGD" RELATED ABBREVIATION [GARD:0000046]
synonym: "cortical basal ganglionic degeneration" EXACT [NCIT:C129069]
synonym: "cortical-basal ganglionic degeneration" RELATED [GARD:0000046]
synonym: "cortico-basal ganglionic Degeneration (CBGD)" RELATED [GARD:0000046]
synonym: "corticobasal degeneration" EXACT [NCIT:C129069]
synonym: "corticobasal syndrome" RELATED [GARD:0000046]
synonym: "corticodentatonigral degeneration with neuronal achromasia" RELATED []
xref: MEDGEN:95979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200011 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129069 {source="MONDO:equivalentTo"}
xref: Orphanet:454887 {source="GARD:0000046", source="MONDO:relatedTo"}
xref: SCTID:18842008 {source="MONDO:equivalentTo"}
xref: UMLS:C0393570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:95979"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005559 ! neurodegenerative disease
is_a: MONDO:0024238 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebral degeneration
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5085" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/46/corticobasal-degeneration" xsd:anyURI {source="GARD:0000046"}

[Term]
id: MONDO:0022311
name: cote katsantoni syndrome
subset: gard_rare {source="GARD:1554", source="MONDO:GARD"}
subset: rare
synonym: "ectodermal dysplasia osteosclerosis" RELATED [GARD:0001554]
xref: GARD:1554 {source="MONDO:GARD"}
xref: MEDGEN:419356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536449 {source="MONDO:equivalentTo"}
xref: Orphanet:1502 {source="GARD:0001554"}
xref: UMLS:C2931195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419356"}
is_a: MONDO:0007405 {source="MESH:C536449"} ! Crouzon syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome" xsd:anyURI {source="GARD:0001554"}

[Term]
id: MONDO:0022314
name: obsolete Hernandez Aguirre-Negrete syndrome
is_obsolete: true
replaced_by: MONDO:0016290

[Term]
id: MONDO:0022316
name: hair defect with photosensitivity and intellectual disability syndrome
def: "Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents." []
subset: ordo_malformation_syndrome {source="Orphanet:1408"}
synonym: "Calderon Gonzalez-Cantu syndrome" EXACT [GARD:0002582]
synonym: "Calderón-González-Cantu syndrome" EXACT [Orphanet:1408]
synonym: "hair defect with photosensitivity and intellectual disability" RELATED [OMIM:234030]
synonym: "hair defect with photosensitivity and intellectual disability syndrome" EXACT []
synonym: "hair defect with photosensitivity and mental retardation" RELATED DEPRECATED [OMIM:234030]
synonym: "hair defect-photosensitivity-intellectual disability syndrome" EXACT [MONDO:0009316]
synonym: "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability" RELATED [GARD:0002582]
synonym: "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation" RELATED DEPRECATED [GARD:0002582]
xref: MEDGEN:383868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537628 {source="MONDO:equivalentTo"}
xref: OMIM:234030 {source="Orphanet:1408/e", source="MONDO:equivalentTo", source="Orphanet:1408"}
xref: Orphanet:1408 {source="OMIM:234030", source="MONDO:equivalentObsolete"}
xref: SCTID:721007005 {source="MONDO:equivalentTo"}
xref: UMLS:C1856241 {source="MEDGEN:383868", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0006025 ! autosomal recessive disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1408", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0019282 {source="Orphanet:1408", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hair shaft abnormality
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4390" xsd:anyURI

[Term]
id: MONDO:0022321
name: 2-methylacetoacetyl CoA thiolase deficiency
comment: Editor note: todo split Wikipedia:2-methylacetoacetyl-CoA_thiolase
subset: gard_rare {source="GARD:8382", source="MONDO:GARD"}
subset: rare
xref: GARD:8382 {source="MONDO:GARD"}
xref: MEDGEN:419652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535307 {source="MONDO:equivalentTo"}
xref: UMLS:C2930874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419652"}
is_a: MONDO:0004736 {source="MESH:C535307"} ! inborn disorder of amino acid metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency" xsd:anyURI {source="GARD:0008382"}

[Term]
id: MONDO:0022323
name: 2-hydroxyethyl methacrylate sensitization
synonym: "2-HEMA sensitization" RELATED [GARD:0008635]
synonym: "sensitization to 2-hydroxyethyl methacrylate" RELATED [GARD:0008635, MESH:C535305]
xref: MEDGEN:443922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535305 {source="MONDO:equivalentTo"}
xref: UMLS:C2930873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443922"}
is_a: MONDO:0006525 {source="MESH:C535305"} ! allergic contact dermatitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8635/2-hydroxyethyl-methacrylate-sensitization" xsd:anyURI {source="GARD:0008635"}

[Term]
id: MONDO:0022330
name: 4-hydroxyphenylacetic aciduria
subset: gard_rare {source="GARD:8155", source="MONDO:GARD"}
subset: rare
xref: GARD:8155 {source="MONDO:GARD"}
xref: MEDGEN:376417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535315 {source="MONDO:equivalentTo"}
xref: UMLS:C1848680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376417"}
is_a: MONDO:0005020 {source="MESH:C535315", source="MONDO:Redundant"} ! intestinal disorder
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria" xsd:anyURI {source="GARD:0008155"}

[Term]
id: MONDO:0022333
name: 5-nucleotidase syndrome
subset: gard_rare {source="GARD:8242", source="MONDO:GARD"}
subset: rare
synonym: "5'-Nucleotidase syndrome" RELATED [MESH:C535321]
synonym: "5'NT syndrome" RELATED [GARD:0008242]
xref: GARD:8242 {source="MONDO:GARD"}
xref: MEDGEN:419653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535321 {source="MONDO:equivalentTo"}
xref: UMLS:C2930876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419653"}
is_a: MONDO:0019052 {source="MESH:C535321"} ! inborn errors of metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome" xsd:anyURI {source="GARD:0008242"}

[Term]
id: MONDO:0022337
name: AIDS dysmorphic syndrome
xref: MEDGEN:1843488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5243926 {source="MEDGEN:1843488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5765/aids-dysmorphic-syndrome" xsd:anyURI {source="GARD:0005765"}

[Term]
id: MONDO:0022338
name: ALK+ histiocytosis
synonym: "anaplastic lymphoma kinase positive histiocytosis" RELATED [GARD:0010577]
is_a: MONDO:0002637 {source="https://orcid.org/0000-0002-6601-2165"} ! histiocytosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10577/alk-histiocytosis" xsd:anyURI {source="GARD:0010577"}

[Term]
id: MONDO:0022349
name: congenital absence of septum pellucidum
def: "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made." [GARD:0009253]
comment: Editor note: consider representing as finding
subset: gard_rare {source="GARD:9253", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "absence of septum pellucidum" EXACT []
xref: GARD:9253 {source="MONDO:GARD"}
xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535562 {source="MONDO:equivalentTo"}
xref: SCTID:253143001 {source="MONDO:equivalentTo"}
xref: UMLS:C0431371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96561"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0008428 {source="MESH:C535562"} ! septooptic dysplasia
relationship: disease_has_basis_in_disruption_of GO:0030901 ! midbrain development
relationship: disease_has_major_feature HP:0001331 ! Absent septum pellucidum
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum" xsd:anyURI {source="GARD:0009253"}

[Term]
id: MONDO:0022357
name: congenital acardia
comment: Editor note: axiomatize using HPO; check parent class MONDO:0002254
subset: gard_rare {source="GARD:9823", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acardia" EXACT []
synonym: "congenital absence of the heart" RELATED [GARD:0009823]
xref: GARD:9823 {source="MONDO:GARD"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:205834002 {source="MONDO:equivalentTo"}
xref: UMLS:C0344580 {source="MEDGEN:91032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_basis_in_disruption_of GO:0007507 ! heart development
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9823/acardia" xsd:anyURI {source="GARD:0009823"}

[Term]
id: MONDO:0022380
name: acute lymphoblastic leukemia congenital sporadic aniridia
def: "A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia." [https://orcid.org/0000-0001-5208-3432, PMID:2735788]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0018874 ! acute myeloid leukemia
relationship: disease_has_feature MONDO:0019172 ! aniridia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/523/acute-lymphoblastic-leukemia-congenital-sporadic-aniridia" xsd:anyURI {source="GARD:0000523"}

[Term]
id: MONDO:0022394
name: cervical intraepithelial neoplasia
subset: gard_rare {source="GARD:9244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cervical Dysplasia" RELATED [NCIT:C3782]
synonym: "Cervical Intraepithelial Neoplasia" RELATED [MESH:D018290, NCIT:C3782]
synonym: "Cervical intraepithelial neoplasia" RELATED [UMLS:C0206708]
synonym: "Cervical Intraepithelial Neoplasm" RELATED [MESH:D018290]
synonym: "Cervical Intraepithelial Neoplasms" RELATED [MESH:D018290]
synonym: "Cervix Intraepithelial Neoplasia" RELATED [NCIT:C3782]
synonym: "Cervix Uteri Intraepithelial Neoplasia" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of Cervix" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of Cervix Uteri" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of the Cervix" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of the Cervix Uteri" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of the Uterine Cervix" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia of Uterine Cervix" RELATED [NCIT:C3782]
synonym: "Intraepithelial Neoplasia, Cervical" RELATED [MESH:D018290]
synonym: "Intraepithelial Neoplasm, Cervical" RELATED [MESH:D018290]
synonym: "Intraepithelial Neoplasms, Cervical" RELATED [MESH:D018290]
synonym: "NEOPL CERVICAL INTRAEPITHELIAL" RELATED [MESH:D018290]
synonym: "Neoplasia, Cervical Intraepithelial" RELATED [MESH:D018290]
synonym: "Neoplasm, Cervical Intraepithelial" RELATED [MESH:D018290]
synonym: "Neoplasms, Cervical Intraepithelial" RELATED [MESH:D018290]
synonym: "Uterine Cervix Intraepithelial Neoplasia" RELATED [NCIT:C3782]
xref: GARD:9244 {source="MONDO:GARD"}
xref: MEDGEN:60214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018290 {source="UMLS:C0206708"}
xref: NCIT:C3782 {source="MONDO:equivalentTo", source="UMLS:C0206708"}
xref: SCTID:285636001 {source="MONDO:equivalentTo", source="UMLS:C0206708"}
xref: UMLS:C0206708 {source="MEDGEN:60214", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006736 ! dysplasia of cervix
relationship: disease_has_major_feature HP:0030159 {source="UMLS:C0206708"} ! Cervical polyp
relationship: has_characteristic MONDO:0021136 {source="GARD:0009244"} ! rare

[Term]
id: MONDO:0022397
name: obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
subset: ordo_group_of_disorders {source="Orphanet:156168"}
xref: GARD:19988 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156168 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022398
name: aglossia and situs inversus
def: "A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs." [https://orcid.org/0000-0001-5208-3432, PMID:26349289]
comment: Editor note: check relationship to MONDO:0008740. Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature HP:0012730 ! Aglossia
relationship: disease_has_feature MONDO:0010029 ! situs inversus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9211/aglossia-and-situs-inversus" xsd:anyURI {source="GARD:0009211"}

[Term]
id: MONDO:0022399
name: obsolete retinal ciliopathy due to mutation in the RPGR gene
subset: ordo_group_of_disorders {source="Orphanet:156171"}
xref: GARD:19989 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156171 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022400
name: obsolete retinal ciliopathy due to mutation in the RPGRIP gene
subset: ordo_group_of_disorders {source="Orphanet:156174"}
xref: GARD:19990 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156174 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022401
name: agyria pachygyria polymicrogyria
def: "Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect." [https://orcid.org/0000-0001-5208-3432, PMID:22333901]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/572/agyria-pachygyria-polymicrogyria" xsd:anyURI {source="GARD:0000572"}

[Term]
id: MONDO:0022402
name: agyria-pachygyria type 1
def: "A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei." [https://orcid.org/0000-0001-5208-3432, PMID:2063992]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "Bielchowsky type of lissencephaly" EXACT [PMID:2063992]
synonym: "type I lissencephaly" EXACT [PMID:2063992]
xref: NANDO:1201068 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1201069 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/573/agyria-pachygyria-type-1" xsd:anyURI {source="GARD:0000573"}

[Term]
id: MONDO:0022403
name: Ahumada Del Castillo syndrome
def: "A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins." [https://orcid.org/0000-0001-5208-3432, PMID:13022752]
synonym: "amenorrhea galactorrhea FSH decrease syndrome" RELATED [GARD:0005763]
synonym: "Argonz Ahumada Del Castillo syndrome" RELATED [GARD:0005763]
synonym: "Argonz Del Castillo syndrome" RELATED [GARD:0005763]
synonym: "galactorrhea amenorrhea without pregnancy" RELATED [GARD:0005763]
synonym: "nonpuerperal galactorrhe amenorrhea" RELATED [GARD:0005763]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5763/ahumada-del-castillo-syndrome" xsd:anyURI {source="GARD:0005763"}

[Term]
id: MONDO:0022404
name: obsolete retinal ciliopathy due to mutation in Usher gene
subset: ordo_group_of_disorders {source="Orphanet:156177"}
xref: GARD:19991 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156177 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022405
name: obsolete retinal ciliopathy due to mutation in nephronophthisis gene
subset: ordo_group_of_disorders {source="Orphanet:156180"}
xref: GARD:19992 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156180 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022406
name: obsolete aksu von stockhausen syndrome
is_obsolete: true
replaced_by: MONDO:0021836

[Term]
id: MONDO:0022407
name: obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene
subset: ordo_group_of_disorders {source="Orphanet:156183"}
xref: GARD:19993 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156183 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022409
name: obsolete nephropathy-associated ciliopathy
subset: ordo_group_of_disorders {source="Orphanet:156162"}
xref: GARD:19986 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156162 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022410
name: retinal ciliopathy
subset: disease_grouping
subset: gard_rare {source="GARD:19987", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:156165"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:19987 {source="MONDO:GARD"}
xref: MEDGEN:1843204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:156165 {source="MONDO:equivalentTo"}
xref: UMLS:C5680651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843204"}
is_a: MONDO:0005308 {source="Orphanet:156165"} ! ciliopathy
intersection_of: MONDO:0005308 ! ciliopathy
intersection_of: disease_has_location UBERON:0000966 ! retina

[Term]
id: MONDO:0022412
name: obsolete albinism immunodeficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/590/albinism-immunodeficiency" xsd:anyURI {source="GARD:0000590"}
is_obsolete: true

[Term]
id: MONDO:0022413
name: Albright-like syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "Albright like syndrome" RELATED [GARD:0000596]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0008274 ! polyostotic fibrous dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/596/albright-like-syndrome" xsd:anyURI {source="GARD:0000596"}

[Term]
id: MONDO:0022414
name: obsolete allain-babin-demarquez syndrome
synonym: "acro cephalo synostosis" RELATED [GARD:0000124]
synonym: "craniosynostosis synostoses hypertensive nephropathy" RELATED [GARD:0000124]
xref: Orphanet:1526 {source="GARD:0000124", source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7190" xsd:anyURI
is_obsolete: true
consider: MONDO:0015161

[Term]
id: MONDO:0022417
name: alopecia congenita keratosis palmoplantaris
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alopecia congenita with hyperkeratosis of the palms and soles" RELATED [MESH:C537050]
synonym: "alopecia congenita with keratosis palmoplantaris" RELATED [MESH:C537050]
xref: MEDGEN:354901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537050 {source="MONDO:equivalentTo"}
xref: UMLS:C1863093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354901"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019272 ! hereditary palmoplantar keratoderma

[Term]
id: MONDO:0022418
name: obsolete alopecia immunodeficiency
comment: Editor note: removed from GARD, merged with MONDO:0011132
is_obsolete: true
replaced_by: MONDO:0011132

[Term]
id: MONDO:0022423
name: obsolete alpha-2 deficient collagen disease
comment: Duplicate.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008761

[Term]
id: MONDO:0022424
name: alpha-mannosidosis type 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:419756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536584 {source="MONDO:equivalentTo"}
xref: NANDO:1200127 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201188 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C2931251 {source="MEDGEN:419756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0009561 {source="MESH:C536584"} ! alpha-mannosidosis
is_a: MONDO:0019052 {source="MESH:C536584/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! inborn errors of metabolism

[Term]
id: MONDO:0022425
name: obsolete alpha-thalassemia-abnormal morphogenesis
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7196" xsd:anyURI
is_obsolete: true
consider: MONDO:0013512
consider: MONDO:0015579

[Term]
id: MONDO:0022428
name: aluminosis
def: "Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax." [https://orcid.org/0000-0001-5208-3432, PMID:16722569]
synonym: "aluminium lung" RELATED OMO:0003005 []
synonym: "aluminosis of lung" EXACT []
synonym: "aluminum lung" RELATED [GARD:0008357]
synonym: "pulmonary aluminosis" EXACT []
xref: MEDGEN:452403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:90623003 {source="MONDO:equivalentTo"}
xref: UMLS:C0311227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452403"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8357/aluminium-lung" xsd:anyURI {source="GARD:0008357"}

[Term]
id: MONDO:0022430
name: persistent fetal circulation syndrome
def: "A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus." [NCIT:C85006]
comment: Editor note: consider relationship to MONDO:0009934
subset: otar {source="MONDO:OTAR"}
synonym: "persistent fetal circulation" EXACT [NCIT:C85006]
synonym: "persistent foetal circulation" EXACT OMO:0003005 []
synonym: "persistent pulmonary hypertension of the newborn" EXACT [NCIT:C85006]
synonym: "PPHN" EXACT ABBREVIATION [NCIT:C85006]
xref: EFO:1001103 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:45824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010547 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C85006 {source="MONDO:equivalentTo"}
xref: SCTID:206597007 {source="MONDO:relatedTo"}
xref: SCTID:233815004 {source="MONDO:equivalentTo"}
xref: SCTID:35604006 {source="MONDO:relatedTo"}
xref: UMLS:C0031190 {source="MEDGEN:45824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024239 ! congenital anomaly of cardiovascular system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0022432
name: alves Castelo dos Santos syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract" RELATED [MESH:C536593]
xref: MEDGEN:419758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536593 {source="MONDO:equivalentTo"}
xref: UMLS:C2931256 {source="MEDGEN:419758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:0022432/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019287 {source="MESH:C536593"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0022434
name: obsolete amelia cleft lip palate hydrocephalus iris coloboma
is_obsolete: true
replaced_by: MONDO:0011052

[Term]
id: MONDO:0022435
name: Mauriac syndrome
def: "A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features." [NCIT:C130997]
synonym: "dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" RELATED [GTR:AN0543890]
synonym: "Mauriac syndrome" EXACT [GTR:AN0543843, NCIT:C130997]
synonym: "Mauriac's syndrome" EXACT [UMLS:C0221005]
xref: GTR:AN0543843 {source="UMLS:C0221005"}
xref: GTR:AN0543890 {source="UMLS:C0221005"}
xref: ICD9:258.1
xref: MEDGEN:526123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C130997 {source="MONDO:equivalentTo", source="UMLS:C0221005"}
xref: SCTID:80660001 {source="MONDO:equivalentTo", source="UMLS:C0221005"}
xref: UMLS:C0221005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:526123"}
is_a: MONDO:0002254 {source="NCIT:C130997", source="UMLS:C0221005"} ! syndromic disease

[Term]
id: MONDO:0022444
name: amyloidosis bronchopulmonary
def: "Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses." [https://orcid.org/0000-0001-5208-3432, PMID:22197156]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1026", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1026 {source="MONDO:GARD"}
is_a: MONDO:0019065 {source="https://orcid.org/0000-0002-6601-2165"} ! amyloidosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1026/amyloidosis-bronchopulmonary" xsd:anyURI {source="GARD:0001026"}

[Term]
id: MONDO:0022446
name: obsolete amyloidosis nodular localized cutaneous
comment: duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/139" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015302

[Term]
id: MONDO:0022448
name: obsolete amyoplasia mandibulofacial dysostosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/660/amyoplasia-mandibulofacial-dysostosis" xsd:anyURI {source="GARD:0000660"}
is_obsolete: true

[Term]
id: MONDO:0022453
name: angiomyomatous hamartoma
def: "An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node." [https://orcid.org/0000-0001-5208-3432, PMID:28899738]
xref: MEDGEN:450938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2959445 {source="MEDGEN:450938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="https://orcid.org/0000-0001-5208-3432"} ! hamartoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8313/angiomyomatous-hamartoma" xsd:anyURI {source="GARD:0008313"}

[Term]
id: MONDO:0022454
name: angiosarcoma of the scalp
def: "Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy." [GARD:0005814]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "angiosarcoma (disease) of scalp" EXACT []
synonym: "scalp angiosarcoma (disease)" EXACT [MONDO:patterns/location]
intersection_of: MONDO:0016982 ! angiosarcoma
intersection_of: disease_has_location UBERON:0000403 ! scalp
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5814/angiosarcoma-of-the-scalp" xsd:anyURI {source="GARD:0005814"}

[Term]
id: MONDO:0022456
name: ankle defects short stature
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/694/ankle-defects-short-stature" xsd:anyURI {source="GARD:0000694"}

[Term]
id: MONDO:0022457
name: ankyloblepharon filiforme imperforate anus
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: Orphanet:1074 {source="MONDO:relatedTo", source="GARD:0000697"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus" xsd:anyURI {source="GARD:0000697"}

[Term]
id: MONDO:0022458
name: annular constricting bands
def: "A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand." [https://orcid.org/0000-0001-5208-3432, PMID:374416]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/704/annular-constricting-bands" xsd:anyURI {source="GARD:0000704"}

[Term]
id: MONDO:0022460
name: obsolete anophthalmia cleft lip palate hypothalamic disorder
is_obsolete: true
replaced_by: MONDO:0010930

[Term]
id: MONDO:0022461
name: anophthalmia cleft palate micrognathia
def: "A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes." [https://orcid.org/0000-0001-5208-3432, PMID:7891380]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/715/anophthalmia-cleft-palate-micrognathia" xsd:anyURI {source="GARD:0000715"}

[Term]
id: MONDO:0022462
name: anophthalmia esophageal atresia cryptorchidism
def: "A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://orcid.org/0000-0001-5208-3432, PMID:1352427]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: n_of_one {xref="PMID:1352427"}
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/716/anophthalmia-esophageal-atresia-cryptorchidism" xsd:anyURI {source="GARD:0000716"}

[Term]
id: MONDO:0022463
name: obsolete anophthalmia megalocornea cardiopathy skeletal anomalies
is_obsolete: true
replaced_by: MONDO:0015230

[Term]
id: MONDO:0022464
name: obsolete anophthalmia microcephaly hypogonadism
comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it.
xref: GARD:0000718 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/141" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022465
name: anotia facial palsy cardiac defect
def: "A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot." [https://orcid.org/0000-0001-5208-3432, PMID:6470867]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/725/anotia-facial-palsy-cardiac-defect" xsd:anyURI {source="GARD:0000725"}

[Term]
id: MONDO:0022468
name: antigen-peptide-transporter 2 deficiency
def: "An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections." [https://orcid.org/0000-0001-5208-3432, PMID:23662797]
subset: gard_rare {source="GARD:732", source="MONDO:GARD"}
subset: rare
synonym: "antigen processing (TAP) deficiency syndrome" EXACT [PMID:23662797]
synonym: "TAP 2 deficiency" RELATED [GARD:0000732]
xref: GARD:732 {source="MONDO:GARD"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/732/antigen-peptide-transporter-2-deficiency" xsd:anyURI {source="GARD:0000732"}

[Term]
id: MONDO:0022469
name: obsolete aortic arches defect
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/141" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015236

[Term]
id: MONDO:0022470
name: aortic dissection lentiginosis
def: "A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis." [https://orcid.org/0000-0001-5208-3432, PMID:7838191]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/742/aortic-dissection-lentiginosis" xsd:anyURI {source="GARD:0000742"}

[Term]
id: MONDO:0022471
name: childhood aortic valve stenosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:744", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "aortic valves stenosis of the child" RELATED [GARD:0000744]
xref: GARD:744 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003803 {source="https://orcid.org/0000-0002-6601-2165"} ! aortic valve disorder
is_a: MONDO:0042981 {source="https://orcid.org/0000-0001-5208-3432"} ! aortic valve stenosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/744/aortic-valves-stenosis-of-the-child" xsd:anyURI {source="GARD:0000744"}

[Term]
id: MONDO:0022481
name: APO A-i deficiency
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:758", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:758 {source="MONDO:GARD"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/758/apo-a-i-deficiency" xsd:anyURI {source="GARD:0000758"}

[Term]
id: MONDO:0022482
name: obsolete apolipoprotein C 2i deficiency
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/759/apolipoprotein-c-2i-deficiency" xsd:anyURI {source="GARD:0000759"}
is_obsolete: true
replaced_by: MONDO:0008810

[Term]
id: MONDO:0022495
name: obsolete arthritis short stature deafness
comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it.
xref: GARD:0000775 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/141" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022496
name: arthrogryposis IUGR thoracic dystrophy
def: "A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia." [https://orcid.org/0000-0001-5208-3432, PMID:196478]
synonym: "Van Bervliet syndrome" RELATED [GARD:0000782]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/782/arthrogryposis-iugr-thoracic-dystrophy" xsd:anyURI {source="GARD:0000782"}

[Term]
id: MONDO:0022500
name: arthrogryposis multiplex congenita CNS calcification
def: "A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle." [https://orcid.org/0000-0001-5208-3432, PMID:3205375]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/785/arthrogryposis-multiplex-congenita-cns-calcification" xsd:anyURI {source="GARD:0000785"}

[Term]
id: MONDO:0022504
name: arthrogryposis spinal muscular atrophy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/795/arthrogryposis-spinal-muscular-atrophy" xsd:anyURI {source="GARD:0000795"}

[Term]
id: MONDO:0022509
name: asternia
def: "Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs." [GARD:0009221]
synonym: "absent sternum" RELATED [GARD:0009221]
xref: MEDGEN:869485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4023912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:869485"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9221/asternia" xsd:anyURI {source="GARD:0009221"}

[Term]
id: MONDO:0022510
name: atlanto-axial fusion
synonym: "atlantoaxial fusion" RELATED [GARD:0009219, MESH:C538196]
synonym: "atlantoaxial joint fusion" RELATED [GARD:0009219, MESH:C538196]
xref: MESH:C538196 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9219/atlanto-axial-fusion" xsd:anyURI {source="GARD:0009219"}

[Term]
id: MONDO:0022512
name: obsolete atrial septal defect coronary sinus
comment: Duplicate.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020435

[Term]
id: MONDO:0022513
name: atrophoderma of Pierini and Pasini
def: "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases." [GARD:0005866]
subset: gard_rare {source="GARD:5866", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658810"}
subset: orphanet_rare {source="Orphanet:658810"}
subset: rare
synonym: "congenital atrophoderma of Pasini and Pierini" RELATED [GARD:0005866]
synonym: "idiopathic atrophoderma of Pasini and Pierini" RELATED [GARD:0005866]
xref: GARD:5866 {source="MONDO:GARD"}
xref: ICD10CM:L90.3 {source="MONDO:equivalentTo"}
xref: MEDGEN:854615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:658810 {source="MONDO:equivalentTo"}
xref: SCTID:711524008 {source="MONDO:equivalentTo"}
xref: UMLS:C3887897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854615"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0021154 {source="Orphanet:658810", source="https://orcid.org/0000-0002-4142-7153"} ! dermis disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pierini-and-pasini" xsd:anyURI {source="GARD:0005866"}

[Term]
id: MONDO:0022518
name: autoimmune inner ear disease
def: "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible." [https://orcid.org/0000-0001-5208-3432, PMID:26485595]
synonym: "AIED" RELATED ABBREVIATION [GARD:0008582]
xref: MEDGEN:583162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0395947 {source="MEDGEN:583162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0002467 ! inner ear disorder
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0022519
name: autoimmune myocarditis
def: "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." [GARD:0009519]
subset: gard_rare {source="GARD:9519", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:0080767 {source="MONDO:equivalentTo"}
xref: GARD:9519 {source="MONDO:GARD"}
xref: MEDGEN:299070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1608389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:299070"}
intersection_of: MONDO:0004496 ! myocarditis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0022529
name: BK-virus nephropathy
subset: otar {source="MONDO:OTAR"}
synonym: "BK virus nephropathy" EXACT [GARD:0010470]
synonym: "BKN" EXACT ABBREVIATION [GARD:0010470]
synonym: "kidney disease caused by BK polyomavirus" EXACT []
synonym: "nephropathy caused by BK polyomavirus" EXACT []
synonym: "nephropathy from BK virus" EXACT [GARD:0010470]
synonym: "polyomavirus associated nephropathy" EXACT [DOID:0040086]
synonym: "Polyomavirus nephropathy" EXACT [GARD:0010470]
synonym: "PVAN" EXACT ABBREVIATION [DOID:0040086]
xref: DOID:0040086 {source="MONDO:equivalentTo"}
xref: ICD9:079.89
xref: MEDGEN:352157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:713886006 {source="MONDO:equivalentTo"}
xref: UMLS:C1697878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:352157"}
is_a: MONDO:0005784 {source="DOID:0040086"} ! hantavirus hemorrhagic fever with renal syndrome
intersection_of: MONDO:0005240 ! kidney disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:1891762 ! disease has primary infectious agent Betapolyomavirus hominis

[Term]
id: MONDO:0022535
name: autonomic facial cephalgia
synonym: "Autonomic facial cephalgia" RELATED [UMLS:C0238902]
synonym: "Carotidynia" RELATED [UMLS:C0238902]
synonym: "carotidynia" EXACT []
synonym: "Carotodynia" RELATED [UMLS:C0238902]
xref: ICD9:337.09
xref: MEDGEN:536866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:21615003 {source="UMLS:C0238902"}
xref: SCTID:230482003 {source="MONDO:equivalentTo", source="UMLS:C0238902"}
xref: UMLS:C0238902 {source="MEDGEN:536866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005269 ! carotid artery disorder

[Term]
id: MONDO:0022538
name: leukoplakia of gingiva
def: "A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis." [NCIT:C3881]
synonym: "Gingival Leukoplakia" RELATED [NCIT:C3881]
synonym: "gingival leukoplakia" EXACT [NCIT:C3881]
synonym: "Leukoplakia of Gingiva" RELATED [NCIT:C3881]
synonym: "Leukoplakia of gingiva" RELATED [UMLS:C0239737]
synonym: "leukoplakia of gingiva" EXACT [NCIT:C3881]
xref: ICD9:528.6
xref: MEDGEN:66795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3881 {source="MONDO:equivalentTo", source="UMLS:C0239737"}
xref: SCTID:32236000 {source="MONDO:equivalentTo", source="UMLS:C0239737"}
xref: UMLS:C0239737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66795"}
intersection_of: MONDO:0004844 ! oral mucosa leukoplakia
intersection_of: disease_has_location UBERON:0001828 ! gingiva

[Term]
id: MONDO:0022545
name: Barnicoat Baraitser syndrome
comment: Editor note: GARD cross-references an Orphanet term that appears not to exist.
synonym: "Barnicoat-Baraitser syndrome" RELATED [GARD:0000825]
synonym: "polysyndactyly overgrowth syndrome" RELATED [GARD:0000825]
xref: Orphanet:2936 {source="GARD:0000825"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/825/barnicoat-baraitser-syndrome" xsd:anyURI {source="GARD:0000825"}

[Term]
id: MONDO:0022546
name: obsolete basal cell nevus anodontia abnormal bone mineralization
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3700" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0021845

[Term]
id: MONDO:0022551
name: Basedow's coma
def: "A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor." [https://orcid.org/0000-0001-5208-3432, PMID:26293122]
synonym: "Coma basedovicum" RELATED [GARD:0008177]
synonym: "Karl Adolph von Basedow" RELATED [GARD:0008177]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8177/basedows-coma" xsd:anyURI {source="GARD:0008177"}

[Term]
id: MONDO:0022552
name: Bazopoulou Kyrkanidou syndrome
subset: gard_rare {source="GARD:839", source="MONDO:GARD"}
subset: rare
xref: GARD:839 {source="MONDO:GARD"}
xref: MEDGEN:444091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537664 {source="MONDO:equivalentTo"}
xref: UMLS:C2931580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444091"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0007405 {source="MESH:C537664"} ! Crouzon syndrome

[Term]
id: MONDO:0022553
name: BD syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/841/bd-syndrome" xsd:anyURI {source="GARD:0000841"}

[Term]
id: MONDO:0022555
name: Beardwell syndrome
synonym: "familial ankylosing vertebral hyperostosis with tylosis" RELATED [MESH:C537665]
xref: MEDGEN:419446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537665 {source="MONDO:equivalentTo"}
xref: UMLS:C2931581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419446"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease

[Term]
id: MONDO:0022556
name: obsolete oculo-cerebral dysplasia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4251" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022557

[Term]
id: MONDO:0022557
name: Behrens Baumann dust syndrome
subset: gard_rare {source="GARD:4021", source="MONDO:GARD"}
subset: rare
synonym: "Behrens-Baumann-Vogel syndrome" EXACT [GARD:0004021]
synonym: "microphthalmia-optic nerve dysplasia" RELATED [GARD:0004021]
synonym: "oculo-cerebral dysplasia" EXACT [MESH:C537670, MONDO:0022556]
synonym: "unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus" RELATED [GARD:0004021]
xref: GARD:4021 {source="MONDO:GARD"}
xref: MEDGEN:444092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537670 {source="MONDO:equivalentTo"}
xref: Orphanet:2705 {source="GARD:0004021"}
xref: UMLS:C2931582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444092"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0002427 {source="MESH:C537670"} ! cerebellar disorder
is_a: MONDO:0021129 {source="MESH:C537670", source="MONDO:Redundant"} ! microphthalmia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4251" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia" xsd:anyURI {source="GARD:0004021"}

[Term]
id: MONDO:0022559
name: benign angiitis of the central nervous system
def: "A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event." [https://orcid.org/0000-0001-5208-3432, PMID:17043471]
subset: gard_rare {source="GARD:8704", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BACNS" RELATED ABBREVIATION [GARD:0008704]
xref: GARD:8704 {source="MONDO:GARD"}
is_a: MONDO:0018882 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! vasculitis
relationship: disease_has_location UBERON:0001017 ! central nervous system
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system" xsd:anyURI {source="GARD:0008704"}

[Term]
id: MONDO:0022560
name: benign metastasizing leiomyoma
def: "A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord." [https://orcid.org/0000-0001-5208-3432, PMID:28426767]
xref: MEDGEN:307261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1511090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307261"}
intersection_of: MONDO:0001572 ! leiomyoma
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant
intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic

[Term]
id: MONDO:0022566
name: obsolete BEST1 retinopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy" xsd:anyURI {source="GARD:0010301"}
is_obsolete: true
replaced_by: MONDO:0007931

[Term]
id: MONDO:0022567
name: bhaskar jagannathan syndrome
xref: MEDGEN:419280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535437 {source="MONDO:equivalentTo"}
xref: UMLS:C2930901 {source="MEDGEN:419280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005129 {source="MESH:C535437", source="MONDO:Redundant"} ! cataract

[Term]
id: MONDO:0022568
name: bidirectional tachycardia
synonym: "bidirectional ventricular tachycardia" RELATED [GARD:0000878, MESH:C535438]
xref: MEDGEN:418944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535438 {source="MONDO:equivalentTo"}
xref: UMLS:C2930902 {source="MEDGEN:418944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/878/bidirectional-tachycardia" xsd:anyURI {source="GARD:0000878"}

[Term]
id: MONDO:0022572
name: bilateral renal agenesis dominant type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:885", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:885 {source="MONDO:GARD"}
is_a: MONDO:0015986 {source="https://orcid.org/0000-0001-5208-3432"} ! bilateral renal agenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type" xsd:anyURI {source="GARD:0000885"}

[Term]
id: MONDO:0022573
name: biliary atresia intrahepatic non syndromic form
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:887", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:887 {source="MONDO:GARD"}
is_a: MONDO:0008867 {source="https://orcid.org/0000-0001-5208-3432"} ! biliary atresia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/887/biliary-atresia-intrahepatic-non-syndromic-form" xsd:anyURI {source="GARD:0000887"}

[Term]
id: MONDO:0022574
name: biliary atresia intrahepatic syndromic form
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:888", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:888 {source="MONDO:GARD"}
is_a: MONDO:0008867 {source="https://orcid.org/0000-0001-5208-3432"} ! biliary atresia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/888/biliary-atresia-intrahepatic-syndromic-form" xsd:anyURI {source="GARD:0000888"}

[Term]
id: MONDO:0022575
name: biliary hypoplasia
def: "A syndromic disease characterized by a small ductal system and reduction in the number of interlobular bile ducts." [https://orcid.org/0000-0001-5208-3432, PMID:12664410]
comment: Editor note: consider making this a finding; Reason of obsoletion: is a phenotype and not a disease - MONDO:excludePhenotype. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7548" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8383/biliary-hypoplasia" xsd:anyURI {source="GARD:0008383"}

[Term]
id: MONDO:0022576
name: bilirubin induced brain injury in the newborn
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9243/bilirubin-induced-brain-injury-in-the-newborn" xsd:anyURI {source="GARD:0009243"}

[Term]
id: MONDO:0022577
name: Billet Bear syndrome
def: "A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations." [https://orcid.org/0000-0001-5208-3432, PMID:3282726]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "lower limb partial duplication renal agenesis" RELATED [GARD:0000892]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7403" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7558" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome" xsd:anyURI {source="GARD:0000892"}

[Term]
id: MONDO:0022578
name: childhood bladder carcinoma
def: "A rare carcinoma of the bladder that occurs during childhood." [NCIT:C118816]
synonym: "bladder cancer" BROAD [NCIT:C118816]
synonym: "bladder cancer childhood" RELATED [GARD:0009305]
synonym: "bladder cancer, childhood" RELATED [GARD:0009305]
synonym: "bladder carcinoma, childhood" RELATED [GARD:0009305]
synonym: "childhood bladder cancer" EXACT [GARD:0009305, NCIT:C118816]
synonym: "childhood bladder carcinoma" EXACT [GARD:0009305, NCIT:C118816]
xref: MEDGEN:859269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118816 {source="MONDO:equivalentTo"}
xref: UMLS:C3899675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:859269"}
is_a: MONDO:0004986 {source="NCIT:C118816"} ! urinary bladder carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9305/bladder-cancer-childhood" xsd:anyURI {source="GARD:0009305"}

[Term]
id: MONDO:0022580
name: blepharo naso facial syndrome van Maldergem type
def: "A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing." [https://orcid.org/0000-0001-5208-3432, PMID:12072799]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/902/blepharo-naso-facial-syndrome-van-maldergem-type" xsd:anyURI {source="GARD:0000902"}

[Term]
id: MONDO:0022586
name: bone dysplasia Moore type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:923", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:923 {source="MONDO:GARD"}
is_a: MONDO:0018230 ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/923/bone-dysplasia-moore-type" xsd:anyURI {source="GARD:0000923"}

[Term]
id: MONDO:0022587
name: bone dysplasia corpus callosum agenesis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:921", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:921 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0018230 ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/921/bone-dysplasia-corpus-callosum-agenesis" xsd:anyURI {source="GARD:0000921"}

[Term]
id: MONDO:0022598
name: brachydactyly absence of distal phalanges
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/961/brachydactyly-absence-of-distal-phalanges" xsd:anyURI {source="GARD:0000961"}

[Term]
id: MONDO:0022599
name: brachydactyly anonychia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/962/brachydactyly-anonychia" xsd:anyURI {source="GARD:0000962"}

[Term]
id: MONDO:0022602
name: brachydactyly small stature face anomalies
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/974/brachydactyly-small-stature-face-anomalies" xsd:anyURI {source="GARD:0000974"}

[Term]
id: MONDO:0022603
name: brachydactyly tibial hypoplasia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: Orphanet:1280 {source="GARD:0000977"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/977/brachydactyly-tibial-hypoplasia" xsd:anyURI {source="GARD:0000977"}

[Term]
id: MONDO:0022605
name: obsolete brachymetapody anodontia hypotrichosis albinoidism
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3687" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008884

[Term]
id: MONDO:0022606
name: branchial arch disease
def: "A disease that involves the pharyngeal system development." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "disease of pharyngeal system development" EXACT [MONDO:patterns/location_top]
synonym: "disorder of pharyngeal system development" EXACT [MONDO:patterns/basis_in_disruption_of_process, MONDO:patterns/location_top]
synonym: "pharyngeal system development disease" EXACT [MONDO:patterns/location]
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_basis_in_disruption_of GO:0060037 ! pharyngeal system development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0022607
name: extraovarian Brenner tumor of the vagina
def: "A Brenner tumor that involves the vagina." [MONDO:patterns/location]
synonym: "Brenner tumor of the vagina" RELATED [GARD:0010006]
synonym: "Brenner tumour of the vagina" RELATED OMO:0003005 []
synonym: "extraovarian Brenner tumor of the vagina" EXACT [GARD:0010006]
synonym: "vagina Brenner tumor" EXACT [MONDO:patterns/location]
synonym: "vagina Brenner tumour" EXACT OMO:0003005 []
intersection_of: MONDO:0024235 ! Brenner tumor
intersection_of: disease_has_location UBERON:0000996 ! vagina
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10006/brenner-tumor-of-the-vagina" xsd:anyURI {source="GARD:0010006"}

[Term]
id: MONDO:0022608
name: brittle bone syndrome lethal type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1018", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1018 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0011375 ! brittle bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type" xsd:anyURI {source="GARD:0001018"}

[Term]
id: MONDO:0022609
name: bronchial adenomas/carcinoids childhood
synonym: "bronchial carcinoids" RELATED [GARD:0009313]
xref: MEDGEN:861863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4013426 {source="MEDGEN:861863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 ! neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9313/bronchial-adenomascarcinoids-childhood" xsd:anyURI {source="GARD:0009313"}

[Term]
id: MONDO:0022610
name: bronchiectasis oligospermia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1023/bronchiectasis-oligospermia" xsd:anyURI {source="GARD:0001023"}

[Term]
id: MONDO:0022611
name: Brunoni syndrome
subset: gard_rare {source="GARD:1032", source="MONDO:GARD"}
subset: rare
synonym: "mesomelia, radial hypoplasia bifid thumb unusual facies" RELATED [MESH:C537408]
synonym: "mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia" RELATED [MESH:C537408]
xref: GARD:1032 {source="MONDO:GARD"}
xref: MEDGEN:444066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537408 {source="MONDO:equivalentTo"}
xref: UMLS:C2931486 {source="MEDGEN:444066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:0022611/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019287 {source="MESH:C537408"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0022612
name: Brunsting-Perry syndrome
synonym: "Brunsting Perry syndrome" RELATED [GARD:0010454]
synonym: "cicatricial pemphigoid of the Brunsting-Perry type" RELATED [GARD:0010454]
synonym: "localised cicatricial pemphigoid" RELATED OMO:0003005 []
synonym: "localized cicatricial pemphigoid" RELATED [GARD:0010454]
xref: MEDGEN:725587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1304226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:725587"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10454/brunsting-perry-syndrome" xsd:anyURI {source="GARD:0010454"}

[Term]
id: MONDO:0022613
name: bruyn scheltens syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1034/bruyn-scheltens-syndrome" xsd:anyURI {source="GARD:0001034"}

[Term]
id: MONDO:0022615
name: burn goodship syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1041/burn-goodship-syndrome" xsd:anyURI {source="GARD:0001041"}

[Term]
id: MONDO:0022618
name: burning mouth syndrome type 3
subset: gard_rare {source="GARD:8558", source="MONDO:GARD"}
subset: rare
synonym: "BMS-3" RELATED [GARD:0008558]
synonym: "Psychiatric disorders coexisting with burning mouth syndrome" RELATED [GARD:0008558]
synonym: "type 3 burning mouth syndrome" RELATED [GARD:0008558]
xref: GARD:8558 {source="MONDO:GARD"}
xref: MEDGEN:419423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537413 {source="MONDO:equivalentTo"}
xref: UMLS:C2931487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419423"}
is_a: MONDO:0006687 {source="MESH:C537413"} ! burning mouth syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8558/burning-mouth-syndrome-type-3" xsd:anyURI {source="GARD:0008558"}

[Term]
id: MONDO:0022620
name: obsolete CD4 deficiency
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5062" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0030981

[Term]
id: MONDO:0022622
name: congenital disorder of glycosylation syndrome type 4
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1174", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "CDG syndrome type 4" EXACT [GARD:0001174]
synonym: "congenital disorder of glycosylation syndrome type 4" EXACT CLINGEN_LABEL []
xref: GARD:1174 {source="MONDO:GARD"}
is_a: MONDO:0015286 {source="DOID:0050571"} ! congenital disorder of glycosylation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1174/cdg-syndrome-type-4" xsd:anyURI {source="GARD:0001174"}

[Term]
id: MONDO:0022623
name: CDK4 linked melanoma
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005105 {source="https://orcid.org/0000-0001-5208-3432"} ! melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1175/cdk4-linked-melanoma" xsd:anyURI {source="GARD:0001175"}

[Term]
id: MONDO:0022633
name: camptodactyly joint contractures and facial skeletal dysplasia
xref: MEDGEN:419868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537969 {source="MONDO:equivalentTo"}
xref: UMLS:C2931678 {source="MEDGEN:419868", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0007342 {source="MESH:C537969"} ! clubfoot
relationship: disease_has_feature MONDO:0018234 {source="MESH:C537969"} ! dysostosis

[Term]
id: MONDO:0022634
name: camptodactyly vertebral fusion
synonym: "camptodactyly and sacral vertebral fusion" RELATED [MESH:C537973]
synonym: "camptodactyly and sacral vertebral fusion (subtype)" RELATED [GARD:0001070]
xref: MEDGEN:444116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537973 {source="MONDO:equivalentTo"}
xref: UMLS:C2931682 {source="MEDGEN:444116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1070/camptodactyly-vertebral-fusion" xsd:anyURI {source="GARD:0001070"}

[Term]
id: MONDO:0022636
name: candida glabrata infection
synonym: "candida glabrata" EXACT [GARD:0008171]
synonym: "Torulopsis glabrata (formerly)" RELATED [GARD:0008171]
is_a: MONDO:0002026 ! candidiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5478 ! Nakaseomyces glabratus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8171/candida-glabrata" xsd:anyURI {source="GARD:0008171"}

[Term]
id: MONDO:0022639
name: Cantu Sanchez-Corona Garcia-Cruz syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1082/cantu-sanchez-corona-garcia-cruz-syndrome" xsd:anyURI {source="GARD:0001082"}

[Term]
id: MONDO:0022642
name: childhood carcinoid tumor
def: "A rare carcinoid tumor that occurs during childhood." [NCIT:C118810]
subset: gard_rare {source="GARD:9315", source="MONDO:GARD"}
subset: rare
synonym: "carcinoid tumor (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "carcinoid tumor childhood" RELATED [GARD:0009315]
synonym: "carcinoid tumour (disease) of childhood" EXACT OMO:0003005 []
synonym: "carcinoid tumour childhood" RELATED OMO:0003005 []
synonym: "childhood carcinoid tumor" EXACT [NCIT:C118810]
synonym: "childhood carcinoid tumor (disease)" EXACT []
synonym: "childhood carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "paediatric carcinoid tumour (disease)" EXACT OMO:0003005 []
synonym: "pediatric carcinoid tumor (disease)" EXACT [MONDO:patterns/childhood]
xref: GARD:9315 {source="MONDO:GARD"}
xref: MEDGEN:859267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118810 {source="MONDO:equivalentTo"}
xref: UMLS:C3899673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:859267"}
is_a: MONDO:0005369 {source="MONDO:Redundant", source="NCIT:C118810"} ! carcinoid tumor
intersection_of: MONDO:0005369 ! carcinoid tumor
intersection_of: has_characteristic HP:0011463 ! Childhood onset
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood" xsd:anyURI {source="GARD:0009315"}

[Term]
id: MONDO:0022643
name: carcinoma of the vocal tract
def: "A carcinoma that involves the laryngeal vocal fold." [MONDO:patterns/location]
synonym: "carcinoma of laryngeal vocal fold" EXACT [MONDO:patterns/carcinoma]
synonym: "laryngeal vocal fold carcinoma" EXACT [MONDO:patterns/location]
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0003706 ! laryngeal vocal fold

[Term]
id: MONDO:0022644
name: cardiac hydatid cysts with intracavitary expansion
synonym: "Cardiac hydatidosis" RELATED [GARD:0000199]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/199/cardiac-hydatid-cysts-with-intracavitary-expansion" xsd:anyURI {source="GARD:0000199"}

[Term]
id: MONDO:0022645
name: cardioencephalomyopathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10673/cardioencephalomyopathy" xsd:anyURI {source="GARD:0010673"}

[Term]
id: MONDO:0022646
name: cardiofacial syndrome short limbs
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1097/cardiofacial-syndrome-short-limbs" xsd:anyURI {source="GARD:0001097"}

[Term]
id: MONDO:0022647
name: cardiomelic syndrome stratton Koehler type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1099/cardiomelic-syndrome-stratton-koehler-type" xsd:anyURI {source="GARD:0001099"}

[Term]
id: MONDO:0022648
name: cardiomyopathy and deafness due to tRNA lysine gene mutation
def: "A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms." [GARD:0001108]
synonym: "cardiomyopathy and deafness due to MTTK gene mutation" RELATED [GARD:0001108, GTR:AN0103739]
synonym: "cardiomyopathy and deafness due to tRNA lysine gene mutation" EXACT [GTR:AN0103738]
xref: GTR:AN0103738
xref: GTR:AN0103739
xref: HGNC:7489 {source="MONDO:gene", source="GARD:0001108"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1108/cardiomyopathy-and-deafness-due-to-trna-lysine-gene-mutation" xsd:anyURI {source="GARD:0001108"}

[Term]
id: MONDO:0022650
name: cardiomyopathy diabetes deafness
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0004994 ! cardiomyopathy
relationship: disease_has_feature MONDO:0005365 ! hearing loss disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1103/cardiomyopathy-diabetes-deafness" xsd:anyURI {source="GARD:0001103"}

[Term]
id: MONDO:0022651
name: obsolete cardiomyopathy dilated with conduction defect type 1
comment: duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2328" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007269

[Term]
id: MONDO:0022652
name: obsolete cardiomyopathy dilated with conduction defect type 2
comment: duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2328" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011003

[Term]
id: MONDO:0022653
name: cardiomyopathy due to anthracyclines
subset: gard_rare {source="GARD:1107", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:1107 {source="MONDO:GARD"}
xref: MEDGEN:1755373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5437452 {source="MEDGEN:1755373", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004994 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiomyopathy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines" xsd:anyURI {source="GARD:0001107"}

[Term]
id: MONDO:0022654
name: cardiomyopathy hypogonadism collagenoma syndrome
synonym: "cardiomyopathy-hypogonadism-collagenoma syndrome" RELATED [MESH:C535582]
xref: MEDGEN:354607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535582 {source="MONDO:equivalentTo"}
xref: UMLS:C1861860 {source="MEDGEN:354607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0002146 {source="MESH:C535582"} ! hypogonadism
relationship: disease_has_feature MONDO:0002531 {source="MESH:C535582"} ! skin neoplasm
relationship: disease_has_feature MONDO:0004994 {source="MESH:C535582"} ! cardiomyopathy

[Term]
id: MONDO:0022655
name: cardiomyopathy hypogonadism metabolic anomalies
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1109", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1109 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019052 ! inborn errors of metabolism
relationship: disease_has_feature MONDO:0002146 {source="MESH:C535582"} ! hypogonadism
relationship: disease_has_feature MONDO:0004994 {source="MESH:C535582"} ! cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1109/cardiomyopathy-hypogonadism-metabolic-anomalies" xsd:anyURI {source="GARD:0001109"}

[Term]
id: MONDO:0022656
name: cardiomyopathy spherocytosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature HP:0004444 ! Spherocytosis
relationship: disease_has_feature MONDO:0004994 {source="MESH:C535582"} ! cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1110/cardiomyopathy-spherocytosis" xsd:anyURI {source="GARD:0001110"}

[Term]
id: MONDO:0022662
name: carpo tarsal osteolysis recessive
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1129/carpo-tarsal-osteolysis-recessive" xsd:anyURI {source="GARD:0001129"}

[Term]
id: MONDO:0022666
name: cassavism
def: "A poisoning that is caused by exposure to fruit of the Cassava plant (Manihot esculenta), contains linamarin, a cyanogenic glucoside. If a person eats improperly prepared products, cassavism (locally termed konzo or mantakassa) may develop, which features toxic ataxic neuropathy." [https://www.medicalalgorithms.com/cassavism-and-tropical-ataxic-neuropathy-konzo-mantakassa]
synonym: "konzo" EXACT [https://www.medicalalgorithms.com/cassavism-and-tropical-ataxic-neuropathy-konzo-mantakassa]
synonym: "mantakassa" EXACT [https://www.medicalalgorithms.com/cassavism-and-tropical-ataxic-neuropathy-konzo-mantakassa]
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5493-2602"} ! poisoning
relationship: excluded_subClassOf MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7551" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10442/cassavism" xsd:anyURI {source="GARD:0010442"}

[Term]
id: MONDO:0022672
name: autosomal dominant cataract
def: "A syndromic cataract that has autosomal dominant inheritance." [https://orcid.org/0000-0001-5208-3432]
synonym: "cataract congenital autosomal dominant" RELATED [GARD:0001143]
is_a: MONDO:0002254 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005129 {source="MONDO:Redundant"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant" xsd:anyURI {source="GARD:0001143"}

[Term]
id: MONDO:0022673
name: autosomal dominant non-nuclear cataract
synonym: "autosomal dominant nonnuclear polymorphic congenital cataract" RELATED [GARD:0001144, MESH:C538284]
synonym: "cataract congenital dominant non nuclear" RELATED [GARD:0001144]
synonym: "cataract, Nonnuclear polymorphic congenital, autosomal dominant" RELATED [MESH:C538284]
synonym: "cataract, polymorphic congenital" RELATED [GARD:0001144, MESH:C538284]
synonym: "CCP" RELATED ABBREVIATION [GARD:0001144]
synonym: "PCC" RELATED ABBREVIATION [GARD:0001144]
xref: MEDGEN:318648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538284 {source="MONDO:equivalentTo"}
xref: OMIM:601286 {source="GARD:0001144", source="MONDO:equivalentObsolete"}
xref: UMLS:C1832526 {source="MEDGEN:318648", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005129 {source="MESH:C538284", source="MONDO:Redundant"} ! cataract
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic HP:0000006 {source="https://orcid.org/0000-0002-4142-7153"} ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1144/cataract-congenital-dominant-non-nuclear" xsd:anyURI {source="GARD:0001144"}

[Term]
id: MONDO:0022675
name: cataract skeletal anomalies
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1158/cataract-skeletal-anomalies" xsd:anyURI {source="GARD:0001158"}

[Term]
id: MONDO:0022676
name: obsolete cataract - glaucoma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2789" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015567

[Term]
id: MONDO:0022682
name: cennamo gangemi syndrome
synonym: "hydrocephalus cataract microphthalmos" RELATED [GARD:0001179]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1179/cennamo-gangemi-syndrome" xsd:anyURI {source="GARD:0001179"}

[Term]
id: MONDO:0022685
name: cerebellar agenesis
xref: MEDGEN:868414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4022808 {source="MEDGEN:868414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1187/cerebellar-agenesis" xsd:anyURI {source="GARD:0001187"}

[Term]
id: MONDO:0022687
name: cerebellar degeneration
def: "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." [NCIT:C84624]
subset: otar {source="MONDO:OTAR"}
synonym: "Brain degeneration" EXACT [DOID:1443]
synonym: "cerebellar Degeneration" EXACT [NCIT:C84624]
synonym: "cerebellar degeneration" EXACT []
synonym: "cerebellum neurodegenerative disease" EXACT [MONDO:patterns/location]
synonym: "cerebral degeneration" RELATED [DOID:1443]
synonym: "neurodegenerative disease of cerebellum" EXACT [MONDO:design_pattern]
xref: DOID:1443 {source="MONDO:equivalentTo"}
xref: ICD9:331.9 {source="DOID:1443", source="MONDO:directSiblingOf"}
xref: MEDGEN:75496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84624 {source="MONDO:equivalentTo"}
xref: SCTID:154994001 {source="DOID:1443"}
xref: SCTID:154998003 {source="DOID:1443"}
xref: SCTID:192824002 {source="DOID:1443"}
xref: SCTID:267579001 {source="DOID:1443"}
xref: SCTID:267686002 {source="DOID:1443"}
xref: SCTID:267688001 {source="DOID:1443"}
xref: SCTID:418143002 {source="DOID:1443", source="MONDO:directSiblingOf"}
xref: SCTID:52522001 {source="DOID:1443"}
xref: SCTID:73768007 {source="DOID:1443"}
xref: SCTID:95646004 {source="MONDO:equivalentTo"}
xref: UMLS:C0262404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75496"}
is_a: MONDO:0005560 {source="DOID:1443", source="MONDO:Redundant"} ! brain disorder
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: disease_has_location UBERON:0002037 ! cerebellum
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration" xsd:anyURI {source="GARD:0006019"}

[Term]
id: MONDO:0022691
name: cerebello-olivary atrophy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "Cerebelloolivary atrophy" RELATED [GARD:0001198]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1198/cerebello-olivary-atrophy" xsd:anyURI {source="GARD:0001198"}

[Term]
id: MONDO:0022693
name: cerebral calcification cerebellar hypoplasia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1201/cerebral-calcification-cerebellar-hypoplasia" xsd:anyURI {source="GARD:0001201"}

[Term]
id: MONDO:0022694
name: cerebral calcifications opalescent teeth phosphaturia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1202/cerebral-calcifications-opalescent-teeth-phosphaturia" xsd:anyURI {source="GARD:0001202"}

[Term]
id: MONDO:0022697
name: athetoid cerebral palsy
def: "A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating." [NCIT:C97169]
synonym: "ADCP" RELATED ABBREVIATION [Wikipedia:Athetoid_cerebral_palsy]
synonym: "athetoid cerebral palsy" EXACT [GARD:0010449]
synonym: "athetoid dyskinetic cerebral palsy" EXACT [DOID:0050672]
synonym: "cerebral palsy dyskinetic" RELATED [GARD:0010449]
synonym: "dyskinetic cerebral palsy" EXACT [Wikipedia:Athetoid_cerebral_palsy]
xref: DOID:0050672 {source="MONDO:equivalentTo"}
xref: ICD10CM:G80.3 {source="MONDO:equivalentTo"}
xref: MEDGEN:82853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97169 {source="MONDO:equivalentTo"}
xref: SCTID:230780007 {source="MONDO:equivalentTo"}
xref: SCTID:75019001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C0270742 {source="MEDGEN:82853", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006497 {source="DOID:0050672", source="ICD10CM:G80.3", source="NCIT:C97169"} ! cerebral palsy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10449/cerebral-palsy-athetoid" xsd:anyURI {source="GARD:0010449"}

[Term]
id: MONDO:0022699
name: cerebral palsy spastic hemiplegic
synonym: "spastic hemiplegia cerebral palsy" RELATED [GARD:0010448]
synonym: "spastic hemiplegic cerebral palsy" RELATED [GARD:0010448]
xref: MEDGEN:208850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0837177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208850"}
is_a: MONDO:0001168 ! spastic hemiplegia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10448/cerebral-palsy-spastic-hemiplegic" xsd:anyURI {source="GARD:0010448"}

[Term]
id: MONDO:0022700
name: cerebral palsy spastic monoplegic
synonym: "spastic monoplegia cerebral palsy" RELATED [GARD:0010446]
synonym: "spastic monoplegic cerebral palsy" RELATED [GARD:0010446]
xref: MEDGEN:78732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0270807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78732"}
is_a: MONDO:0001169 ! spastic monoplegia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10446/cerebral-palsy-spastic-monoplegic" xsd:anyURI {source="GARD:0010446"}

[Term]
id: MONDO:0022712
name: oculo digital syndrome
synonym: "Chemke Oliver Mallek syndrome" RELATED [GARD:0004025]
synonym: "Chemke-Oliver-Mallek syndrome" RELATED [GARD:0004025]
synonym: "multiple ophthalmic anomalies and digital hypoplasia" RELATED [GARD:0004025, MESH:C535922]
xref: MEDGEN:419324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535922 {source="MONDO:equivalentTo"}
xref: Orphanet:2711 {source="GARD:0004025"}
xref: UMLS:C2931063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419324"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4025/oculo-digital-syndrome" xsd:anyURI {source="GARD:0004025"}

[Term]
id: MONDO:0022714
name: chester porphyria
def: "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic." [GARD:0010185]
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PORC" RELATED ABBREVIATION [GARD:0010185]
synonym: "porphyria, Chester type" RELATED [GARD:0010185]
xref: MEDGEN:82789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:176010 {source="GARD:0010185", source="MONDO:equivalentObsolete"}
xref: UMLS:C0268322 {source="MEDGEN:82789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019142 ! inherited porphyria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10185/chester-porphyria" xsd:anyURI {source="GARD:0010185"}

[Term]
id: MONDO:0022715
name: Chiari malformation type 3
synonym: "Arnold Chiari malformation type III" RELATED [GARD:0009233]
synonym: "Chiari malformation type III" RELATED [GARD:0009233]
synonym: "Chiari type III malformation" RELATED [GARD:0009233]
xref: MEDGEN:148202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:253186001 {source="MONDO:equivalentTo"}
xref: UMLS:C0750931 {source="MEDGEN:148202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000115 {source="https://orcid.org/0000-0002-6601-2165"} ! Chiari malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9233/chiari-malformation-type-3" xsd:anyURI {source="GARD:0009233"}

[Term]
id: MONDO:0022716
name: Chiari malformation type 4
synonym: "Arnold Chiari malformation type IV" RELATED [GARD:0009234]
synonym: "Chiari malformation type IV" RELATED [GARD:0009234]
synonym: "Chiari type IV malformation" RELATED [GARD:0009234]
xref: MEDGEN:148203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:253187005 {source="MONDO:equivalentTo"}
xref: UMLS:C0750932 {source="MEDGEN:148203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000115 {source="https://orcid.org/0000-0002-6601-2165"} ! Chiari malformation
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9234/chiari-malformation-type-4" xsd:anyURI {source="GARD:0009234"}

[Term]
id: MONDO:0022723
name: chondrodysplasia
subset: otar {source="MONDO:OTAR"}
synonym: "chondrodysplasia" EXACT []
xref: MEDGEN:91012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:205465004 {source="MONDO:equivalentTo"}
xref: UMLS:C0343284 {source="MEDGEN:91012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease

[Term]
id: MONDO:0022725
name: obsolete chondrodysplasia lethal recessive
comment: This was a duplicate class.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015425

[Term]
id: MONDO:0022729
name: chondrodysplasia punctata with steroid sulfatase deficiency
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0022723 {source="https://orcid.org/0000-0001-5208-3432"} ! chondrodysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6050/chondrodysplasia-punctata-with-steroid-sulfatase-deficiency" xsd:anyURI {source="GARD:0006050"}

[Term]
id: MONDO:0022732
name: obsolete chorea minor
comment: obsoleted in source
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2749" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6057/chorea-minor" xsd:anyURI {source="GARD:0006057"}
is_obsolete: true

[Term]
id: MONDO:0022733
name: choreoacanthocytosis amyotrophic
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1306/choreoacanthocytosis-amyotrophic" xsd:anyURI {source="GARD:0001306"}

[Term]
id: MONDO:0022734
name: chorioretinopathy dominant form microcephaly
xref: MEDGEN:502349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3501946 {source="MONDO:equivalentTo", source="MEDGEN:502349", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1308/chorioretinopathy-dominant-form-microcephaly" xsd:anyURI {source="GARD:0001308"}

[Term]
id: MONDO:0022735
name: choroid plexus cyst
synonym: "choroid plexus cyst" EXACT []
synonym: "CPC - choroid plexus cyst" RELATED []
xref: MEDGEN:87376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4351 {source="MONDO:equivalentTo"}
xref: SCTID:230790004 {source="MONDO:equivalentTo"}
xref: UMLS:C0338597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87376"}
is_a: MONDO:0005262 ! central nervous system cyst
is_a: MONDO:0005560 {source="MONDO:Redundant"} ! brain disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1309/choroid-plexus-cyst" xsd:anyURI {source="GARD:0001309"}

[Term]
id: MONDO:0022736
name: occupational lung disease
subset: otar {source="MONDO:OTAR"}
synonym: "Occupational inhalation disease" RELATED [UMLS:C0264421]
synonym: "Occupational lung disease" RELATED [UMLS:C0264421]
synonym: "Occupational lung disorder" RELATED [UMLS:C0264421]
synonym: "Occupational pulmonary disease" RELATED [UMLS:C0264421]
synonym: "Occupational respiratory disease" RELATED [UMLS:C0264421]
xref: ICD9:508.9
xref: MEDGEN:538557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:86157004 {source="MONDO:equivalentTo", source="UMLS:C0264421"}
xref: UMLS:C0264421 {source="MEDGEN:538557", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 ! lung disorder
intersection_of: MONDO:0005275 ! lung disorder
intersection_of: realized_in_response_to ECTO:0001591 ! exposure to occupation

[Term]
id: MONDO:0022737
name: choroideremia hypopituitarism
def: "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain." []
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CHM-hypopituitarism syndrome" EXACT [Orphanet:1434]
synonym: "choroideraemia co-occurrent with hypopituitarism" RELATED []
synonym: "choroideraemia hypopituitarism" RELATED []
synonym: "choroideremia co-occurrent with hypopituitarism" RELATED []
synonym: "choroideremia hypopituitarism" EXACT []
xref: MEDGEN:896081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:1434 {source="MONDO:equivalentObsolete"}
xref: SCTID:715417002 {source="MONDO:equivalentTo"}
xref: UMLS:C4275146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896081"}
is_a: MONDO:0000425 {source="MONDO:Redundant"} ! X-linked disease
is_a: MONDO:0010557 {source="https://orcid.org/0000-0001-5208-3432"} ! choroideremia
is_a: MONDO:0019118 {source="Orphanet:1434", source="https://orcid.org/0000-0001-5208-3432"} ! inherited retinal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7553" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism" xsd:anyURI {source="GARD:0001312"}

[Term]
id: MONDO:0022739
name: Christian Demyer Franken syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1315/christian-demyer-franken-syndrome" xsd:anyURI {source="GARD:0001315"}

[Term]
id: MONDO:0022740
name: Christian Johnson angenieta syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1316/christian-johnson-angenieta-syndrome" xsd:anyURI {source="GARD:0001316"}

[Term]
id: MONDO:0022742
name: occupational asthma
def: "Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE." [MESH:D059366]
synonym: "Asthma, Occupational" RELATED [MESH:D059366]
synonym: "Asthmas, Occupational" RELATED [MESH:D059366]
synonym: "Industrial asthma" RELATED [UMLS:C0264423]
synonym: "industrial asthma" RELATED []
synonym: "Occupational Asthma" RELATED [MESH:D059366]
synonym: "Occupational asthma" RELATED [UMLS:C0264423]
synonym: "occupational asthma" EXACT []
synonym: "Occupational Asthmas" RELATED [MESH:D059366]
xref: DOID:0080820 {source="MONDO:equivalentTo"}
xref: MEDGEN:452342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059366 {source="MONDO:equivalentTo", source="UMLS:C0264423"}
xref: SCTID:57607007 {source="MONDO:equivalentTo", source="UMLS:C0264423"}
xref: UMLS:C0264423 {source="MEDGEN:452342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004979 {source="MESH:D059366", source="UMLS:C0264423"} ! asthma
is_a: MONDO:0022736 {source="https://orcid.org/0000-0001-5208-3432", source="https://www.cdc.gov/asthma/faqs.htm#:~:text=Asthma%20is%20a%20disease%20that,adults%20can%20have%20asthma%2C%20too."} ! occupational lung disease
intersection_of: MONDO:0004979 ! asthma
intersection_of: realized_in_response_to ECTO:0001591 ! exposure to occupation

[Term]
id: MONDO:0022745
name: mixed dust pneumoconiosis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "labrador lung" RELATED [GARD:0008374]
synonym: "Mixed dust pneumoconiosis" RELATED [UMLS:C0264436]
synonym: "mixed dust pneumoconiosis" EXACT []
xref: ICD9:504
xref: MEDGEN:78109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:32139003 {source="MONDO:equivalentTo", source="UMLS:C0264436"}
xref: UMLS:C0264436 {source="MEDGEN:78109", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015926 {source="https://orcid.org/0000-0001-5208-3432"} ! pneumoconiosis
relationship: has_characteristic MONDO:0021136 {source="GARD:0008374"} ! rare

[Term]
id: MONDO:0022746
name: chromosome 13p duplication
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chromosome 13p, trisomy" RELATED [MESH:C535450]
synonym: "Duplication 13p" RELATED [MESH:C535450]
synonym: "trisomy 13p" RELATED [MESH:C535450]
xref: MEDGEN:419282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535450 {source="MONDO:equivalentTo"}
xref: UMLS:C2930906 {source="MEDGEN:419282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder
is_a: MONDO:0700029 {source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of chromosome 13
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr13p ! 13p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0022749
name: non-neoplastic nevus
def: "A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth." [NCIT:C3937]
subset: otar {source="MONDO:OTAR"}
synonym: "Non-Neoplastic Nevus" RELATED [NCIT:C3937]
synonym: "Non-neoplastic nevus" RELATED [UMLS:C0265027]
synonym: "non-neoplastic nevus" EXACT [NCIT:C3937]
xref: ICD9:448.1
xref: MEDGEN:78119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3937 {source="MONDO:equivalentTo", source="UMLS:C0265027"}
xref: SCTID:195381005 {source="MONDO:equivalentTo", source="UMLS:C0265027"}
xref: UMLS:C0265027 {source="MEDGEN:78119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 ! skin disorder

[Term]
id: MONDO:0022752
name: chromosome 16p13.3 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "RSTS, Severe" RELATED [MESH:C566433]
synonym: "Rubinstein-Taybi syndrome, Severe" RELATED [MESH:C566433]
xref: MEDGEN:502906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566433 {source="MONDO:equivalentTo"}
xref: UMLS:C3502510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:502906"}
is_a: MONDO:0016894 {source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the short arm of chromosome 16
is_a: MONDO:0019040 {source="MESH:C566433/inferred"} ! chromosomal disorder
is_a: MONDO:0019188 {source="MESH:C566433"} ! Rubinstein-Taybi syndrome
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr16p13.3 ! 16p13.3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0022754
name: chromosome 17p deletion
def: "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17." [NCIT:C36499]
subset: disease_grouping
subset: gard_rare {source="GARD:20817", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261965"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "17p deletion" RELATED [GARD:0006075]
synonym: "17p monosomy" RELATED [GARD:0006075]
synonym: "17p- syndrome" RELATED [MESH:C538045]
synonym: "chromosome 17p deletion" EXACT [GARD:0006075]
synonym: "chromosome 17p deletion syndrome" RELATED [MESH:C538045]
synonym: "del(17p)" RELATED [NCIT:C36499]
synonym: "deletion 17p" RELATED [GARD:0006075]
synonym: "deletion 17p syndrome" RELATED [MESH:C538045]
synonym: "interstitial deletion 17p" RELATED [MESH:C538045]
synonym: "loss of chromosome 17p" RELATED [NCIT:C36499]
synonym: "monosomy 17p" RELATED [GARD:0006075]
synonym: "partial deletion of chromosome 17p" EXACT [Orphanet:261965]
synonym: "partial deletion of the short arm of chromosome 17" EXACT [Orphanet:261965]
synonym: "partial monosomy 17p" RELATED [MESH:C538045]
synonym: "partial monosomy of chromosome 17p" EXACT [Orphanet:261965]
synonym: "partial monosomy of the short arm of chromosome 17" EXACT [MONDO:0016895]
synonym: "partial monosomy of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261965]
xref: GARD:20817 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:261965/attributed", source="Orphanet:261965/ntbt", source="Orphanet:261965"}
xref: icd11.foundation:527787991 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:261965"}
xref: MEDGEN:1842221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538045 {source="MONDO:equivalentTo"}
xref: NCIT:C36499 {source="MONDO:relatedTo"}
xref: Orphanet:261965 {source="MONDO:equivalentTo"}
xref: UMLS:C5679671 {source="MEDGEN:1842221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016879 {source="Orphanet:261965"} ! partial deletion of chromosome 17
is_a: MONDO:0019040 {source="MESH:C538045/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! chromosomal disorder
is_a: MONDO:0020583 {source="NCIT:C36499"} ! chromosome 17 disorder
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr17p ! 17p (Human)
relationship: excluded_subClassOf MONDO:0008434 {source="MESH:C538045", source="https://orcid.org/0000-0001-5208-3432"} ! Smith-Magenis syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0022755
name: chromosome 18 mosaic monosomy
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "monosomy 18 mosaicism" RELATED [GARD:0003726, MESH:C536581]
synonym: "Mosaic monosomy 18" RELATED [GARD:0003726]
synonym: "Mosaic monosomy chromosome 18" RELATED [GARD:0003726]
xref: MEDGEN:419755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536581 {source="MONDO:equivalentTo"}
xref: UMLS:C2931250 {source="MEDGEN:419755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0020639 ! monosomy
intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0022756
name: chromosome 1q deletion
def: "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0008669]
subset: disease_grouping
subset: gard_rare {source="GARD:8669", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262001"}
subset: rare
synonym: "1q deletion" RELATED [GARD:0008669]
synonym: "1q monosomy" RELATED [GARD:0008669]
synonym: "deletion 1q" RELATED [GARD:0008669]
synonym: "monosomy 1q" RELATED [GARD:0008669]
synonym: "partial deletion of chromosome 1q" EXACT [Orphanet:262001]
synonym: "partial deletion of the long arm of chromosome 1" EXACT [MONDO:0016900]
synonym: "partial deletion of the long arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262001]
synonym: "partial monosomy 1q" RELATED [GARD:0008669]
synonym: "partial monosomy of chromosome 1q" EXACT [Orphanet:262001]
synonym: "partial monosomy of the long arm of chromosome 1" EXACT [Orphanet:262001]
xref: GARD:8669 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262001/attributed", source="Orphanet:262001/ntbt", source="Orphanet:262001"}
xref: icd11.foundation:296620919 {source="Orphanet:262001", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1825942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262001 {source="MONDO:equivalentTo"}
xref: UMLS:C5679674 {source="MONDO:equivalentTo", source="MEDGEN:1825942", source="MONDO:MEDGEN"}
is_a: MONDO:0016866 {source="Orphanet:262001"} ! partial deletion of chromosome 1
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1q ! 1q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion" xsd:anyURI {source="GARD:0008669"}

[Term]
id: MONDO:0022757
name: chromosome 20 trisomy
def: "Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization." [GARD:0005332]
subset: gard_rare {source="GARD:5332", source="MONDO:GARD"}
subset: rare
synonym: "mosaic trisomy 20" RELATED [GARD:0005332]
synonym: "trisomy 20" RELATED [GARD:0005332]
synonym: "trisomy 20 mosaicism" RELATED [GARD:0005332]
synonym: "trisomy chromosome 20" RELATED [GARD:0005332]
xref: GARD:5332 {source="MONDO:GARD"}
xref: MEDGEN:120542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535372 {source="MONDO:equivalentTo"}
xref: NCIT:C36397 {source="MONDO:relatedTo"}
xref: UMLS:C0265479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120542"}
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr20 ! chromosome 20 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy" xsd:anyURI {source="GARD:0005332"}

[Term]
id: MONDO:0022758
name: chromosome 22, monosome mosaic
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chromosome 22 mosaic monosomy" RELATED [MESH:C536798]
synonym: "Mosaic monosome 22" RELATED [MESH:C536798]
xref: MEDGEN:419776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536798 {source="MONDO:equivalentTo"}
xref: UMLS:C2931330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419776"}
is_a: MONDO:0019040 {source="MESH:C536798"} ! chromosomal disorder
intersection_of: MONDO:0020639 ! monosomy
intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0022759
name: trisomy 22
def: "Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR)." [GARD:0005335]
subset: gard_rare {source="GARD:5335", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 22 trisomy" RELATED [GARD:0005335]
xref: GARD:5335 {source="MONDO:GARD"}
xref: MEDGEN:82711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536799 {source="MONDO:equivalentTo"}
xref: SCTID:205655003 {source="MONDO:equivalentTo"}
xref: UMLS:C0265490 {source="MONDO:equivalentTo", source="MEDGEN:82711", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (Human)
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5335/trisomy-22" xsd:anyURI {source="GARD:0005335"}

[Term]
id: MONDO:0022760
name: chromosome 22q deletion
subset: disease_grouping
subset: gard_rare {source="GARD:20841", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:262182"}
subset: rare
synonym: "22q deletion" EXACT [GARD:0008668]
synonym: "22q monosomy" EXACT [GARD:0008668]
synonym: "deletion 22q" EXACT [GARD:0008668]
synonym: "monosomy 22q" EXACT [GARD:0008668]
synonym: "partial deletion of chromosome 22q" EXACT [Orphanet:262182]
synonym: "partial deletion of the long arm of chromosome 22" EXACT [MONDO:0016920]
synonym: "partial deletion of the long arm of chromosome type 22" EXACT [MONDORULE:2, Orphanet:262182]
synonym: "partial monosomy 22q" EXACT [GARD:0008668]
synonym: "partial monosomy of chromosome 22q" EXACT [Orphanet:262182]
synonym: "partial monosomy of the long arm of chromosome 22" EXACT [Orphanet:262182]
xref: GARD:20841 {source="MONDO:GARD"}
xref: ICD10CM:Q93.5 {source="Orphanet:262182/attributed", source="Orphanet:262182/ntbt", source="Orphanet:262182"}
xref: MEDGEN:539297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:262182 {source="MONDO:equivalentTo"}
xref: UMLS:C0265489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539297"}
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr22q ! 22q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion" xsd:anyURI {source="GARD:0008668"}

[Term]
id: MONDO:0022761
name: chromosome 3 duplication syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:419778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536803 {source="MONDO:equivalentTo"}
xref: UMLS:C2931333 {source="MEDGEN:419778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019040 {source="MESH:C536803"} ! chromosomal disorder
relationship: disease_arises_from_structure CHR:9606-chr3 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 3 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0022762
name: chromosome 4 short arm deletion
subset: disease_grouping
subset: gard_rare {source="GARD:20808", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:261884"}
subset: rare
synonym: "4p deletion" EXACT [GARD:0006090]
synonym: "4p monosomy" EXACT [GARD:0006090]
synonym: "chromosome 4p deletion" EXACT [MESH:C537637]
synonym: "deletion 4p" EXACT [MESH:C537637]
synonym: "monosomy 4p" EXACT [MESH:C537637]
synonym: "partial deletion of chromosome 4p" EXACT [Orphanet:261884]
synonym: "partial deletion of the short arm of chromosome 4" EXACT [MONDO:0016886]
synonym: "partial deletion of the short arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:261884]
synonym: "partial monosomy 4p" EXACT [GARD:0006090]
synonym: "partial monosomy of chromosome 4p" EXACT [Orphanet:261884]
synonym: "partial monosomy of the short arm of chromosome 4" EXACT [Orphanet:261884]
xref: GARD:20808 {source="MONDO:GARD"}
xref: ICD10CM:Q93.3 {source="MONDO:equivalentTo", source="Orphanet:261884/specific", source="Orphanet:261884", source="Orphanet:261884/e"}
xref: icd11.foundation:1460916074 {source="MONDO:equivalentTo", source="Orphanet:261884", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:419441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537637 {source="MONDO:equivalentTo"}
xref: Orphanet:261884 {source="MONDO:equivalentTo"}
xref: UMLS:C2931557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419441"}
is_a: MONDO:0016869 {source="Orphanet:261884"} ! partial deletion of chromosome 4
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr4p ! 4p (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0022765
name: chronic demyelinizing neuropathy with IgM monoclonal
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1352/chronic-demyelinizing-neuropathy-with-igm-monoclonal" xsd:anyURI {source="GARD:0001352"}

[Term]
id: MONDO:0022768
name: chronic polyradiculoneuritis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1355", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1355 {source="MONDO:GARD"}
is_a: MONDO:0006915 ! polyradiculoneuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1355/chronic-polyradiculoneuritis" xsd:anyURI {source="GARD:0001355"}

[Term]
id: MONDO:0022769
name: ciliary dyskinesia-bronchiectasis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis" xsd:anyURI {source="GARD:0001362"}

[Term]
id: MONDO:0022770
name: circumscribed cutaneous aplasia of the vertex
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex" xsd:anyURI {source="GARD:0001365"}

[Term]
id: MONDO:0022771
name: circumscribed disseminated keratosis Jadassohn lew type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1366/circumscribed-disseminated-keratosis-jadassohn-lew-type" xsd:anyURI {source="GARD:0001366"}

[Term]
id: MONDO:0022772
name: classic Kaposi sarcoma
def: "A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation." [NCIT:C9112]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "classic Kaposi sarcoma" EXACT [NCIT:C9112]
synonym: "classic Kaposi's sarcoma" EXACT [NCIT:C9112]
synonym: "Kaposi sarcoma classical type" EXACT [NCIT:C9112]
synonym: "Kaposi sarcoma, classic" EXACT [NCIT:C9112]
synonym: "Kaposi's sarcoma, classical type" EXACT [NCIT:C9112]
xref: MEDGEN:78931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9112 {source="MONDO:equivalentTo"}
xref: UMLS:C0279084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78931"}
is_a: MONDO:0005055 {source="NCIT:C9112/inferred"} ! Kaposi's sarcoma

[Term]
id: MONDO:0022775
name: cleft lip and palate malrotation cardiopathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1371/cleft-lip-and-palate-malrotation-cardiopathy" xsd:anyURI {source="GARD:0001371"}

[Term]
id: MONDO:0022776
name: cleft lip and/or palate with mucous cysts of lower
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1372/cleft-lip-andor-palate-with-mucous-cysts-of-lower" xsd:anyURI {source="GARD:0001372"}

[Term]
id: MONDO:0022777
name: cleft lip palate dysmorphism kumar type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1375/cleft-lip-palate-dysmorphism-kumar-type" xsd:anyURI {source="GARD:0001375"}

[Term]
id: MONDO:0022778
name: cleft lip palate intellectual disability corneal opacity
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1380/cleft-lip-palate-mental-retardation-corneal-opacity" xsd:anyURI {source="GARD:0001380"}

[Term]
id: MONDO:0022779
name: cleft lip palate oligodontia syndactyly pili torti
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1381/cleft-lip-palate-oligodontia-syndactyly-pili-torti" xsd:anyURI {source="GARD:0001381"}

[Term]
id: MONDO:0022780
name: cleft lip palate pituitary deficiency
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency" xsd:anyURI {source="GARD:0001382"}

[Term]
id: MONDO:0022781
name: cleft lip palate-tetraphocomelia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1383/cleft-lip-palate-tetraphocomelia" xsd:anyURI {source="GARD:0001383"}

[Term]
id: MONDO:0022782
name: cleft lower lip cleft lateral canthi chorioretinal
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1386/cleft-lower-lip-cleft-lateral-canthi-chorioretinal" xsd:anyURI {source="GARD:0001386"}

[Term]
id: MONDO:0022785
name: cleft palate cardiac defect ectrodactyly
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1387/cleft-palate-cardiac-defect-ectrodactyly" xsd:anyURI {source="GARD:0001387"}

[Term]
id: MONDO:0022786
name: cleft palate colobomata radial synostosis deafness
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1388/cleft-palate-colobomata-radial-synostosis-deafness" xsd:anyURI {source="GARD:0001388"}

[Term]
id: MONDO:0022787
name: cleft palate heart disease polydactyly absent tibia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1389/cleft-palate-heart-disease-polydactyly-absent-tibia" xsd:anyURI {source="GARD:0001389"}

[Term]
id: MONDO:0022790
name: cleft tongue
synonym: "bifid tongue" RELATED [GARD:0001395]
synonym: "cleft tongue syndrome" RELATED [GARD:0001395]
xref: MEDGEN:82731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0266111 {source="MEDGEN:82731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1395/cleft-tongue" xsd:anyURI {source="GARD:0001395"}

[Term]
id: MONDO:0022791
name: coarse face hypotonia constipation
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "Sondheimer syndrome" RELATED [GARD:0001412]
xref: Orphanet:1967 {source="GARD:0001412"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1412/coarse-face-hypotonia-constipation" xsd:anyURI {source="GARD:0001412"}

[Term]
id: MONDO:0022792
name: coccygodynia
def: "Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury." [GARD:0005168]
synonym: "coccydynia" RELATED [GARD:0005168]
xref: MEDGEN:507576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0009193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507576"}
is_a: MONDO:0700057 ! neurological pain disorder
relationship: disease_has_location UBERON:0001350 ! coccyx
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5168/coccygodynia" xsd:anyURI {source="GARD:0005168"}

[Term]
id: MONDO:0022794
name: obsolete chromosome 8 deletion
def: "OBSOLETE. A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8." [NCIT:C36535]
synonym: "Anomaly of chromosome pair 8" RELATED [GARD:0012070, UMLS:C0265418]
synonym: "del(8)" RELATED [NCIT:C36535]
synonym: "Deletions of chromosome 8" RELATED [MESH:C537823]
synonym: "loss of chromosome 8" RELATED [NCIT:C36535]
xref: MESH:C537823 {source="MONDO:relatedTo"}
xref: NCIT:C36535 {source="MONDO:relatedTo"}
xref: SCTID:48082007 {source="UMLS:C0265418", source="GARD:0012070"}
relationship: excluded_subClassOf MONDO:0020639 {source="MESH:C537823", source="https://orcid.org/0000-0001-5208-3432"} ! monosomy
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3477" xsd:anyURI
is_obsolete: true
consider: MONDO:0700015
consider: MONDO:0700035

[Term]
id: MONDO:0022795
name: deficiency of coenzyme q cytochrome c reductase
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1419", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "coenzyme Q cytochrome c reductase deficiency of" RELATED [GARD:0001419]
xref: GARD:1419 {source="MONDO:GARD"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1419/coenzyme-q-cytochrome-c-reductase-deficiency-of" xsd:anyURI {source="GARD:0001419"}

[Term]
id: MONDO:0022798
name: Cohen Lockood Wyborney syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1423/cohen-lockood-wyborney-syndrome" xsd:anyURI {source="GARD:0001423"}

[Term]
id: MONDO:0022799
name: cold urticaria
def: "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications." [GARD:0006131]
subset: otar {source="MONDO:OTAR"}
synonym: "cold contact urticaria" RELATED [GARD:0006131]
synonym: "primary idiopathic cold urticaria" RELATED [GARD:0006131]
synonym: "urticaria idiopathic cold" RELATED [GARD:0006131]
xref: EFO:1001881 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:472942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:74774004 {source="MONDO:equivalentTo"}
xref: UMLS:C0221207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:472942"}
is_a: MONDO:0005492 {source="EFO:1001881"} ! urticaria
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria" xsd:anyURI {source="GARD:0006131"}

[Term]
id: MONDO:0022800
name: type 2 collagenopathy
def: "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="GARD:19186", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:93421"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cartilage collagen" RELATED [GARD:0009246]
synonym: "COL2A1" RELATED ABBREVIATION [GARD:0009246]
synonym: "COL2A1 disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "collagen II" RELATED [GARD:0009246]
synonym: "collagenopathy type 2 alpha 1" EXACT [https://orcid.org/0000-0001-8612-1062]
synonym: "disease or disorder caused by mutation in COL2A1" EXACT [MONDO:patterns/disease_series_by_gene]
xref: GARD:19186 {source="MONDO:GARD"}
xref: HGNC:2200 {source="GARD:0009246"}
xref: MEDGEN:419326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535964 {source="MONDO:equivalentTo"}
xref: NANDO:2201016 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:93421 {source="MONDO:equivalentTo"}
xref: UMLS:C2931073 {source="MEDGEN:419326", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005585 ! collagen type II trimer
relationship: excluded_subClassOf MONDO:0005381 {source="Orphanet:93421", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3574" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3698" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1" xsd:anyURI {source="GARD:0009246"}

[Term]
id: MONDO:0022802
name: Collins-Sakati syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "Collins Sakati syndrome" RELATED [GARD:0001429]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1429/collins-sakati-syndrome" xsd:anyURI {source="GARD:0001429"}

[Term]
id: MONDO:0022803
name: coloboma porencephaly hydronephrosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1439/coloboma-porencephaly-hydronephrosis" xsd:anyURI {source="GARD:0001439"}

[Term]
id: MONDO:0022804
name: colobomata unilobar lung heart defect
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1442/colobomata-unilobar-lung-heart-defect" xsd:anyURI {source="GARD:0001442"}

[Term]
id: MONDO:0022805
name: colonic malakoplakia
xref: MEDGEN:540762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0267536 {source="MEDGEN:540762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6137/colonic-malakoplakia" xsd:anyURI {source="GARD:0006137"}

[Term]
id: MONDO:0022809
name: Colver Steer Godman syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1448/colver-steer-godman-syndrome" xsd:anyURI {source="GARD:0001448"}

[Term]
id: MONDO:0022810
name: Combarros Calleja Leno syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1449/combarros-calleja-leno-syndrome" xsd:anyURI {source="GARD:0001449"}

[Term]
id: MONDO:0022812
name: complement receptor deficiency
def: "A disorder with basis in disruption of a complement receptor." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:9527", source="MONDO:GARD"}
subset: rare
synonym: "complement receptor deficiency" EXACT []
xref: GARD:9527 {source="MONDO:GARD"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:96025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:234628004 {source="MONDO:equivalentTo"}
xref: UMLS:C0398783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96025"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003832 ! complement deficiency
relationship: disease_has_basis_in_disruption_of GO:0004875 ! complement receptor activity
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency" xsd:anyURI {source="GARD:0009527"}

[Term]
id: MONDO:0022815
name: congenital absence of the sternocleidomastoid muscle
xref: MEDGEN:419327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535977 {source="MONDO:equivalentTo"}
xref: UMLS:C2931075 {source="MEDGEN:419327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9972/congenital-absence-of-the-sternocleidomastoid-muscle" xsd:anyURI {source="GARD:0009972"}

[Term]
id: MONDO:0022817
name: congenital amputation
xref: MEDGEN:346618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1857583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:346618"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1471/congenital-amputation" xsd:anyURI {source="GARD:0001471"}

[Term]
id: MONDO:0022818
name: congenital aneurysms of the great vessels
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1472/congenital-aneurysms-of-the-great-vessels" xsd:anyURI {source="GARD:0001472"}

[Term]
id: MONDO:0022819
name: obsolete congenital arteriovenous shunt
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7205" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020296

[Term]
id: MONDO:0022820
name: congenital articular rigidity
xref: MEDGEN:108568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0595987 {source="MEDGEN:108568", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1473/congenital-articular-rigidity" xsd:anyURI {source="GARD:0001473"}

[Term]
id: MONDO:0022821
name: congenital benign spinal muscular atrophy dominant
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1474/congenital-benign-spinal-muscular-atrophy-dominant" xsd:anyURI {source="GARD:0001474"}

[Term]
id: MONDO:0022822
name: congenital cardiovascular shunt
xref: MEDGEN:108904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0596366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108904"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6154/congenital-cardiovascular-shunt" xsd:anyURI {source="GARD:0006154"}

[Term]
id: MONDO:0022823
name: congenital contractures
xref: MEDGEN:83066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0332878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83066"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1477/congenital-contractures" xsd:anyURI {source="GARD:0001477"}

[Term]
id: MONDO:0022824
name: congenital craniosynostosis maternal hyperthyroiditis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1478/congenital-craniosynostosis-maternal-hyperthyroiditis" xsd:anyURI {source="GARD:0001478"}

[Term]
id: MONDO:0022825
name: congenital cystic eye
subset: gard_rare {source="GARD:10617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519384"}
subset: ordo_morphological_anomaly
subset: orphanet_rare {source="Orphanet:519384"}
subset: rare
synonym: "CCE" RELATED ABBREVIATION [GARD:0010617]
xref: GARD:10617 {source="MONDO:GARD"}
xref: MEDGEN:510582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519384 {source="MONDO:equivalentTo"}
xref: UMLS:C0158543 {source="MEDGEN:510582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye" xsd:anyURI {source="GARD:0010617"}

[Term]
id: MONDO:0022826
name: congenital cystic eye multiple ocular and intracranial anomalies
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1479", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1479 {source="MONDO:GARD"}
is_a: MONDO:0022825 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital cystic eye
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1479/congenital-cystic-eye-multiple-ocular-and-intracranial-anomalies" xsd:anyURI {source="GARD:0001479"}

[Term]
id: MONDO:0022831
name: congenital heart disease ptosis hypodontia craniostosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1483/congenital-heart-disease-ptosis-hypodontia-craniostosis" xsd:anyURI {source="GARD:0001483"}

[Term]
id: MONDO:0022832
name: congenital heart disease radio ulnar synostosis intellectual disability
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1484/congenital-heart-disease-radio-ulnar-synostosis-mental-retardation" xsd:anyURI {source="GARD:0001484"}

[Term]
id: MONDO:0022839
name: congenital human immunodeficiency virus
synonym: "congenital HIV" RELATED [GARD:0010328]
synonym: "neonatal HIV" RELATED [GARD:0010328]
synonym: "neonatal human immunodeficiency virus" RELATED [GARD:0010328]
xref: MEDGEN:636232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0520783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:636232"}
is_a: MONDO:0005109 ! HIV infectious disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10328/congenital-human-immunodeficiency-virus" xsd:anyURI {source="GARD:0010328"}

[Term]
id: MONDO:0022841
name: congenital hypotrichosis milia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0003037 {source="https://orcid.org/0000-0002-6601-2165"} ! hypotrichosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1488/congenital-hypotrichosis-milia" xsd:anyURI {source="GARD:0001488"}

[Term]
id: MONDO:0022843
name: congenital mumps
is_a: MONDO:0000989 ! mumps infectious disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1498/congenital-mumps" xsd:anyURI {source="GARD:0001498"}

[Term]
id: MONDO:0022846
name: congenital nonhemolytic jaundice
is_a: MONDO:0010634 ! jaundice, familial obstructive, of infancy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6177/congenital-nonhemolytic-jaundice" xsd:anyURI {source="GARD:0006177"}

[Term]
id: MONDO:0022849
name: congenital stenosis of cervical medullary canal
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1504/congenital-stenosis-of-cervical-medullary-canal" xsd:anyURI {source="GARD:0001504"}

[Term]
id: MONDO:0022850
name: obsolete congenital sucrose isomaltose malabsorption
is_obsolete: true
replaced_by: MONDO:0009114

[Term]
id: MONDO:0022851
name: Dennis-Fairhurst-Moore syndrome
def: "A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder." [PMID:8585575]
subset: gard_rare {source="GARD:290", source="MONDO:GARD"}
subset: n_of_one
subset: ordo_disorder {source="Orphanet:2109"}
subset: orphanet_rare {source="Orphanet:2109"}
subset: rare
synonym: "Dennis Fairhurst Moore syndrome" RELATED [GARD:0000290]
synonym: "Hallermam Streiff like syndrome" RELATED [GARD:0000290, MESH:C538210]
xref: GARD:290 {source="MONDO:GARD"}
xref: MEDGEN:419158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538210 {source="MONDO:equivalentTo"}
xref: Orphanet:2109 {source="MONDO:equivalentTo"}
xref: UMLS:C2931775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419158"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_shares_features_of MONDO:0009318 {source="MESH:C538210"} ! Hallermann-Streiff syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/290/dennis-fairhurst-moore-syndrome" xsd:anyURI {source="GARD:0000290"}

[Term]
id: MONDO:0022854
name: congenital unilateral pulmonary hypoplasia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1507/congenital-unilateral-pulmonary-hypoplasia" xsd:anyURI {source="GARD:0001507"}

[Term]
id: MONDO:0022855
name: congenital vagal hyperreflexivity
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1508/congenital-vagal-hyperreflexivity" xsd:anyURI {source="GARD:0001508"}

[Term]
id: MONDO:0022857
name: obsolete continuous muscle fiber activity hereditary
is_obsolete: true
replaced_by: MONDO:0019943

[Term]
id: MONDO:0022858
name: continuous spike-wave during slow sleep syndrome
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0019123 continuous spikes and waves during sleep
subset: obsoletion_candidate
xref: NANDO:1200601 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7606" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1513/continuous-spike-wave-during-slow-sleep-syndrome" xsd:anyURI {source="GARD:0001513"}

[Term]
id: MONDO:0022859
name: cor biloculare
def: "A congenital anatomic anomaly in which the heart has only two chambers." [NCIT:C124591]
synonym: "absence of atrial and ventricular septa" RELATED []
synonym: "Cor Biloculare" EXACT [NCIT:C124591]
synonym: "cor biloculare" EXACT []
synonym: "TWO-chambered heart" EXACT [NCIT:C124591]
xref: ICD9:745.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C124591 {source="MONDO:equivalentTo"}
xref: SCTID:81990004 {source="MONDO:equivalentTo"}
xref: UMLS:C0152238 {source="MEDGEN:56271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="MONDO:Redundant", source="NCIT:C124591/inferred"} ! heart disorder
relationship: disease_has_location UBERON:0000948 ! heart
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6193/cor-biloculare" xsd:anyURI {source="GARD:0006193"}

[Term]
id: MONDO:0022862
name: Cormier Rustin Munnich syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1523/cormier-rustin-munnich-syndrome" xsd:anyURI {source="GARD:0001523"}

[Term]
id: MONDO:0022863
name: corneal crystals myopathy neuropathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1526/corneal-crystals-myopathy-neuropathy" xsd:anyURI {source="GARD:0001526"}

[Term]
id: MONDO:0022865
name: corneal dystrophy ichthyosis microcephaly intellectual disability
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1528/corneal-dystrophy-ichthyosis-microcephaly-mental-retardation" xsd:anyURI {source="GARD:0001528"}

[Term]
id: MONDO:0022866
name: corneal dystrophy pigmentary anomaly malabsorption
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1530/corneal-dystrophy-pigmentary-anomaly-malabsorption" xsd:anyURI {source="GARD:0001530"}

[Term]
id: MONDO:0022869
name: coronary arteries congenital malformation
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0001389 congenital coronary artery anomaly
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7607" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1534/coronary-arteries-congenital-malformation" xsd:anyURI {source="GARD:0001534"}

[Term]
id: MONDO:0022871
name: corpus callosum agenesis of blepharophimosis robin type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_location UBERON:0002336 ! corpus callosum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1538/corpus-callosum-agenesis-of-blepharophimosis-robin-type" xsd:anyURI {source="GARD:0001538"}

[Term]
id: MONDO:0022872
name: corpus callosum dysgenesis X-linked recessive
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_location UBERON:0002336 ! corpus callosum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1543/corpus-callosum-dysgenesis-x-linked-recessive" xsd:anyURI {source="GARD:0001543"}

[Term]
id: MONDO:0022873
name: corpus callosum dysgenesis cleft spasm
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_location UBERON:0002336 ! corpus callosum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1541/corpus-callosum-dysgenesis-cleft-spasm" xsd:anyURI {source="GARD:0001541"}

[Term]
id: MONDO:0022874
name: corpus callosum dysgenesis hypopituitarism
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_location UBERON:0002336 ! corpus callosum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1542/corpus-callosum-dysgenesis-hypopituitarism" xsd:anyURI {source="GARD:0001542"}

[Term]
id: MONDO:0022875
name: cortada Koussef Matsumoto syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1546/cortada-koussef-matsumoto-syndrome" xsd:anyURI {source="GARD:0001546"}

[Term]
id: MONDO:0022876
name: Cortes Lacassie syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1547/cortes-lacassie-syndrome" xsd:anyURI {source="GARD:0001547"}

[Term]
id: MONDO:0022880
name: obsolete corticobasal degeneration
xref: NANDO:1200011 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5085" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0022308

[Term]
id: MONDO:0022883
name: craniofacial and skeletal defects
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1570/craniofacial-and-skeletal-defects" xsd:anyURI {source="GARD:0001570"}

[Term]
id: MONDO:0022884
name: craniofacial dysostosis arthrogryposis progeroid appearance
synonym: "Van Biervliet Hendrickx Van Ertbruggen syndrome" RELATED [GARD:0001573]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1573/craniofacial-dysostosis-arthrogryposis-progeroid-appearance" xsd:anyURI {source="GARD:0001573"}

[Term]
id: MONDO:0022887
name: craniofrontonasal syndrome Teebi type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1579/craniofrontonasal-syndrome-teebi-type" xsd:anyURI {source="GARD:0001579"}

[Term]
id: MONDO:0022888
name: craniostenosis cataract
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005129 {source="https://orcid.org/0000-0001-5208-3432"} ! cataract
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1584/craniostenosis-cataract" xsd:anyURI {source="GARD:0001584"}

[Term]
id: MONDO:0022889
name: craniostenosis with congenital heart disease intellectual disability
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1585/craniostenosis-with-congenital-heart-disease-mental-retardation" xsd:anyURI {source="GARD:0001585"}

[Term]
id: MONDO:0022890
name: craniosynostosis Fontaine type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1595", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1595 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1595/craniosynostosis-fontaine-type" xsd:anyURI {source="GARD:0001595"}

[Term]
id: MONDO:0022891
name: craniosynostosis Maroteaux Fonfria type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1598", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1598 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1598/craniosynostosis-maroteaux-fonfria-type" xsd:anyURI {source="GARD:0001598"}

[Term]
id: MONDO:0022892
name: craniosynostosis alopecia brain defect
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1586", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1586 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1586/craniosynostosis-alopecia-brain-defect" xsd:anyURI {source="GARD:0001586"}

[Term]
id: MONDO:0022893
name: craniosynostosis arthrogryposis cleft palate
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1587", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1587 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1587/craniosynostosis-arthrogryposis-cleft-palate" xsd:anyURI {source="GARD:0001587"}

[Term]
id: MONDO:0022894
name: craniosynostosis autosomal dominant
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1588", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1588 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1588/craniosynostosis-autosomal-dominant" xsd:anyURI {source="GARD:0001588"}

[Term]
id: MONDO:0022895
name: craniosynostosis cleft lip palate arthrogryposis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1590", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1590 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1590/craniosynostosis-cleft-lip-palate-arthrogryposis" xsd:anyURI {source="GARD:0001590"}

[Term]
id: MONDO:0022896
name: craniosynostosis contractures cleft
subset: gard_rare {source="GARD:1591", source="MONDO:GARD"}
subset: rare
xref: GARD:1591 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft" xsd:anyURI {source="GARD:0001591"}

[Term]
id: MONDO:0022897
name: craniosynostosis exostoses nevus epibulbar dermoid
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1593", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1593 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1593/craniosynostosis-exostoses-nevus-epibulbar-dermoid" xsd:anyURI {source="GARD:0001593"}

[Term]
id: MONDO:0022898
name: craniosynostosis intellectual disability heart defects
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1600", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1600 {source="MONDO:GARD"}
is_a: MONDO:0015469 {source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1600/craniosynostosis-mental-retardation-heart-defects" xsd:anyURI {source="GARD:0001600"}

[Term]
id: MONDO:0022899
name: crawfurd syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1607/crawfurd-syndrome" xsd:anyURI {source="GARD:0001607"}

[Term]
id: MONDO:0022900
name: athyreotic congenital hypothyroidism
def: "Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)" [Wikipedia:Congenital_hypothyroidism]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: athyreosis-MONDO:0019855
subset: gard_rare {source="GARD:1610", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "cretinism athyreotic" RELATED DEPRECATED [GARD:0001610]
xref: GARD:1610 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0018612 {source="MONDO:Redundant"} ! congenital hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7357" xsd:anyURI
property_value: IAO:0006012 "2024-06-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1610/cretinism-athyreotic" xsd:anyURI {source="GARD:0001610"}

[Term]
id: MONDO:0022901
name: Crohn disease of the esophagus
def: "An Crohn disease involving a pathogenic inflammatory response in the esophagus." [MONDO:patterns/specific_inflammatory_disease_by_site]
synonym: "Crohn's disease of the esophagus" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Crohn's disease of the oesophagus" EXACT OMO:0003005 []
xref: MEDGEN:574175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0341116 {source="MEDGEN:574175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005011 ! Crohn disease
intersection_of: disease_has_inflammation_site UBERON:0001043 ! esophagus

[Term]
id: MONDO:0022904
name: cryofibrinogenemia
synonym: "cryofibrinogenemia" EXACT []
xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:78798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536218 {source="MONDO:equivalentTo"}
xref: SCTID:10934005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78798"}
is_a: MONDO:0005576 {source="MESH:C536218"} ! cryoglobulinemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9908/cryofibrinogenemia" xsd:anyURI {source="GARD:0009908"}

[Term]
id: MONDO:0022907
name: cutaneous sclerosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0005093 ! skin disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9752/cutaneous-sclerosis" xsd:anyURI {source="GARD:0009752"}

[Term]
id: MONDO:0022908
name: cutis gyratum acanthosis nigricans craniosynostosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1635/cutis-gyratum-acanthosis-nigricans-craniosynostosis" xsd:anyURI {source="GARD:0001635"}

[Term]
id: MONDO:0022909
name: cutis laxa osteoporosis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1637/cutis-laxa-osteoporosis" xsd:anyURI {source="GARD:0001637"}

[Term]
id: MONDO:0022912
name: cutis verticis gyrata mental deficiency
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1644", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1644 {source="MONDO:GARD"}
is_a: MONDO:0019033 ! primary cutis verticis gyrata
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1644/cutis-verticis-gyrata-mental-deficiency" xsd:anyURI {source="GARD:0001644"}

[Term]
id: MONDO:0022913
name: obsolete cutler bass Romshe syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7161" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010128

[Term]
id: MONDO:0022916
name: obsolete cystic hygroma lethal cleft palate
comment: Reason: out of scope and obsoleted in GARD.
synonym: "Cowchock Wapner Kurtz syndrome" RELATED [GARD:0001653]
xref: Orphanet:2193 {source="GARD:0001653"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4340" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0022918
name: obsolete cytokine deficiency
def: "OBSOLETE. A disease that has its basis in the disruption of cytokine activity." [MONDO:patterns/basis_in_disruption_of_process]
comment: No children, was added to mirror existing term, there is no info in GARD and GARD plans to obsolete this term.
synonym: "cytokine activity disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cytokine activity" EXACT [MONDO:patterns/basis_in_disruption_of_process]
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1576" xsd:anyURI
is_obsolete: true
consider: HP:0011112

[Term]
id: MONDO:0022919
name: cytokine receptor deficiency
def: "A disease that has its basis in the disruption of cytokine receptor activity." [MONDO:patterns/basis_in_disruption_of_process]
comment: Editor note: todo, align. Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "cytokine receptor activity disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cytokine receptor activity" EXACT [MONDO:patterns/basis_in_disruption_of_process]
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0004896 ! cytokine receptor activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9530/cytokine-receptor-deficiency" xsd:anyURI {source="GARD:0009530"}

[Term]
id: MONDO:0022921
name: obsolete short stature-microcephaly-heart defect syndrome
synonym: "d'ercole syndrome" RELATED [GARD:0000233, Orphanet:2861]
synonym: "short stature microcephaly heart defect" RELATED [GARD:0000233]
xref: Orphanet:2861 {source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
replaced_by: MONDO:0020119

[Term]
id: MONDO:0022926
name: obsolete daentl towsend Siegel syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4328" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016350

[Term]
id: MONDO:0022930
name: Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
subset: gard_rare {source="GARD:137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Aughton sloan Milad syndrome" EXACT [GARD:0000137]
xref: GARD:137 {source="MONDO:GARD"}
xref: MEDGEN:419910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538340 {source="MONDO:equivalentTo"}
xref: UMLS:C2931823 {source="MEDGEN:419910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009072 {source="https://orcid.org/0000-0001-5208-3432"} ! Dandy-Walker syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia" xsd:anyURI {source="GARD:0000137"}

[Term]
id: MONDO:0022932
name: Davenport-Donlan syndrome
def: "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder." [PMID:526579]
comment: Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579
subset: n_of_one
synonym: "Davenport Donlan syndrome" RELATED [GARD:0001672]
synonym: "dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis" RELATED [GARD:0001672, MESH:C535988, PMID:526579]
xref: MEDGEN:443971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535988 {source="MONDO:equivalentTo"}
xref: Orphanet:3215 {source="GARD:0001672", source="MONDO:equivalentObsolete"}
xref: UMLS:C2931076 {source="MEDGEN:443971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect"} ! syndromic disease
relationship: disease_has_feature MONDO:0002363 {source="MESH:C535988"} ! papilloma
relationship: disease_has_feature MONDO:0002531 {source="MESH:C535988"} ! skin neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1672/davenport-donlan-syndrome" xsd:anyURI {source="GARD:0001672"}

[Term]
id: MONDO:0022934
name: Davis Lafer syndrome
synonym: "intellectual disability unusual facies Davis Lafer type" RELATED [GARD:0001674, MESH:C535989]
synonym: "Lafer Davis syndrome" RELATED [GARD:0001674, MESH:C535989]
synonym: "mental retardation unusual facies Davis Lafer type" RELATED DEPRECATED [GARD:0001674, MESH:C535989]
xref: MEDGEN:419708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535989 {source="MONDO:equivalentTo"}
xref: UMLS:C2931077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419708"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1674/davis-lafer-syndrome" xsd:anyURI {source="GARD:0001674"}

[Term]
id: MONDO:0022936
name: de Hauwere Leroy adriaenssens syndrome
synonym: "iris dysplasia, orbital hypertelorism, and psychomotor retardation" RELATED [MESH:C535991]
xref: MEDGEN:419709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535991 {source="MONDO:equivalentTo"}
xref: UMLS:C2931078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419709"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature HP:0000316 {source="MESH:C535991"} ! Hypertelorism
relationship: disease_has_feature MONDO:0002289 {source="MESH:C535991"} ! iris disorder

[Term]
id: MONDO:0022937
name: deafness conductive stapedial ear malformation facial palsy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1684/deafness-conductive-stapedial-ear-malformation-facial-palsy" xsd:anyURI {source="GARD:0001684"}

[Term]
id: MONDO:0022938
name: deafness goiter stippled epiphyses
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1689/deafness-goiter-stippled-epiphyses" xsd:anyURI {source="GARD:0001689"}

[Term]
id: MONDO:0022939
name: obsolete deafness hyperuricemia neurologic ataxia
comment: Obsolete in GARD.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1596" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0043176

[Term]
id: MONDO:0022940
name: obsolete deafness hyperuricemia neurologic ataxia
is_obsolete: true
replaced_by: MONDO:0022939

[Term]
id: MONDO:0022941
name: deafness hypospadias metacarpal and metatarsal syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1692/deafness-hypospadias-metacarpal-and-metatarsal-syndrome" xsd:anyURI {source="GARD:0001692"}

[Term]
id: MONDO:0022942
name: deafness mesenteric diverticula of small bowel neuropathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1693/deafness-mesenteric-diverticula-of-small-bowel-neuropathy" xsd:anyURI {source="GARD:0001693"}

[Term]
id: MONDO:0022945
name: deafness peripheral neuropathy arterial disease
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1701/deafness-peripheral-neuropathy-arterial-disease" xsd:anyURI {source="GARD:0001701"}

[Term]
id: MONDO:0022946
name: deafness progressive cataract autosomal dominant
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1702/deafness-progressive-cataract-autosomal-dominant" xsd:anyURI {source="GARD:0001702"}

[Term]
id: MONDO:0022948
name: Deal Barratt Dillon syndrome
subset: gard_rare {source="GARD:1717", source="MONDO:GARD"}
subset: rare
synonym: "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhea" RELATED [MESH:C538206]
synonym: "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea" RELATED OMO:0003005 []
xref: GARD:1717 {source="MONDO:GARD"}
xref: MEDGEN:444139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538206 {source="MONDO:equivalentTo"}
xref: UMLS:C2931773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444139"}
is_a: MONDO:0001083 {source="MESH:C538206"} ! Fanconi renotubular syndrome
relationship: disease_has_feature HP:0000952 {source="MESH:C538206"} ! Jaundice
relationship: disease_has_feature MONDO:0019269 {source="MESH:C538206"} ! ichthyosis

[Term]
id: MONDO:0022949
name: defective apolipoprotein b-100
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:1720", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:1720 {source="MONDO:GARD"}
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1720/defective-apolipoprotein-b-100" xsd:anyURI {source="GARD:0001720"}

[Term]
id: MONDO:0022953
name: obsolete delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7145" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009401

[Term]
id: MONDO:0022960
name: dermatocardioskeletal syndrome boronne type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1812/dermatocardioskeletal-syndrome-boronne-type" xsd:anyURI {source="GARD:0001812"}

[Term]
id: MONDO:0022963
name: desmoplastic infantile astrocytoma
def: "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" [NCIT:C9476]
subset: gard_rare {source="GARD:9617", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Desmoplastic astrocytoma of infancy" EXACT [NCIT:C9476]
synonym: "Desmoplastic infantile astrocytoma" EXACT [NCIT:C9476]
synonym: "DIA" EXACT ABBREVIATION [GARD:0009617, NCIT:C9476, ONCOTREE:DIA]
xref: GARD:9617 {source="MONDO:GARD"}
xref: ICDO:9412/1 {source="NCIT:C9476"}
xref: MEDGEN:141595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9476 {source="MONDO:equivalentTo"}
xref: ONCOTREE:DIA {source="MONDO:equivalentTo"}
xref: UMLS:C0457179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141595"}
is_a: MONDO:0016729 {source="NCIT:C9476"} ! mixed neuronal-glial tumor
relationship: disease_has_feature MONDO:0004897 {source="NCIT:C9476"} ! hypotropia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma" xsd:anyURI {source="GARD:0009617"}

[Term]
id: MONDO:0022965
name: desmoplastic infantile ganglioglioma
def: "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" [NCIT:C4738]
subset: gard_rare {source="GARD:8648", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Desmoplastic infantile ganglioglioma" EXACT [NCIT:C4738]
synonym: "DIG" EXACT ABBREVIATION [GARD:0008648, NCIT:C4738, ONCOTREE:DIG]
xref: DOID:0081259 {source="MONDO:equivalentTo"}
xref: GARD:8648 {source="MONDO:GARD"}
xref: MEDGEN:231168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4738 {source="MONDO:equivalentTo"}
xref: ONCOTREE:DIG {source="MONDO:equivalentTo"}
xref: UMLS:C1321878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231168"}
is_a: MONDO:0016729 {source="NCIT:C4738"} ! mixed neuronal-glial tumor
relationship: disease_has_feature MONDO:0004897 {source="NCIT:C4738"} ! hypotropia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma" xsd:anyURI {source="GARD:0008648"}

[Term]
id: MONDO:0022968
name: dextrocardia with situs inversus
def: "Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus." [GARD:0006268]
synonym: "situs inversus totalis" RELATED [GARD:0006268]
xref: MEDGEN:237234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1395317 {source="MEDGEN:237234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0010029 {source="https://orcid.org/0000-0002-6601-2165"} ! situs inversus
relationship: disease_has_feature MONDO:0015661 ! dextrocardia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6268/dextrocardia-with-situs-inversus" xsd:anyURI {source="GARD:0006268"}

[Term]
id: MONDO:0022971
name: diabetes persistent mullerian ducts
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1840/diabetes-persistent-mullerian-ducts" xsd:anyURI {source="GARD:0001840"}

[Term]
id: MONDO:0022972
name: diabetic mastopathy
def: "Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es)." [GARD:0008322]
synonym: "diabetic fibrous breast disease" RELATED [GARD:0008322]
synonym: "diabetic fibrous mastopathy" RELATED [GARD:0008322]
synonym: "lymphocytic mastitis" RELATED [GARD:0008322]
synonym: "lymphocytic mastopathy" RELATED [GARD:0008322]
synonym: "sclerosing lymphocytic lobulitis" RELATED [GARD:0008322]
xref: MEDGEN:1385460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537524 {source="MONDO:equivalentTo"}
xref: SCTID:724136006 {source="MONDO:equivalentTo"}
xref: UMLS:C1167667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385460"}
is_a: MONDO:0005165 {source="MONDO:Redundant"} ! benign neoplasm
relationship: disease_has_location UBERON:0000310 ! breast
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy" xsd:anyURI {source="GARD:0008322"}

[Term]
id: MONDO:0022975
name: diaphragmatic agenesis radial aplasia omphalocele
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1843/diaphragmatic-agenesis-radial-aplasia-omphalocele" xsd:anyURI {source="GARD:0001843"}

[Term]
id: MONDO:0022977
name: diaphragmatic hernia exomphalos corpus callosum agenesis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1846/diaphragmatic-hernia-exomphalos-corpus-callosum-agenesis" xsd:anyURI {source="GARD:0001846"}

[Term]
id: MONDO:0022978
name: diaphragmatic hernia upper limb defects
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1847/diaphragmatic-hernia-upper-limb-defects" xsd:anyURI {source="GARD:0001847"}

[Term]
id: MONDO:0022981
name: die Smulders droog van dijk syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1857/die-smulders-droog-van-dijk-syndrome" xsd:anyURI {source="GARD:0001857"}

[Term]
id: MONDO:0022982
name: die Smulders Vles Fryns syndrome
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7608" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1858/die-smulders-vles-fryns-syndrome" xsd:anyURI {source="GARD:0001858"}

[Term]
id: MONDO:0022983
name: Dieterich disease
subset: gard_rare {source="GARD:204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "avascular necrosis of the metacarpal head" RELATED [GARD:0000204, MESH:C536172]
synonym: "Dieterich disease" EXACT [GARD:0000204, MESH:C536172]
synonym: "Dieterich's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
xref: GARD:204 {source="MONDO:GARD"}
xref: MEDGEN:418997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536172 {source="MONDO:equivalentTo"}
xref: UMLS:C2931124 {source="MEDGEN:418997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005380 {source="MESH:C536172"} ! osteonecrosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease" xsd:anyURI {source="GARD:0000204"}

[Term]
id: MONDO:0022985
name: diffuse cavernous hemangioma of the rectum
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "cavernous haemangioma of the rectum" RELATED [GARD:0010750]
is_a: MONDO:0006500 {source="https://orcid.org/0000-0001-5208-3432"} ! hemangioma
relationship: disease_has_location UBERON:0001052 ! rectum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10750/diffuse-cavernous-hemangioma-of-the-rectum" xsd:anyURI {source="GARD:0010750"}

[Term]
id: MONDO:0022986
name: diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
def: "A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor." [NCIT:C7437]
subset: gard_rare {source="GARD:10780", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617916"}
subset: orphanet_rare {source="Orphanet:617916"}
subset: rare
synonym: "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" EXACT [NCIT:C7437]
synonym: "DIP-NECH" EXACT [NCIT:C7437]
synonym: "DIPNECH" EXACT ABBREVIATION [GARD:0010780, NCIT:C7437]
xref: GARD:10780 {source="MONDO:GARD"}
xref: MEDGEN:232427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7437 {source="MONDO:equivalentTo"}
xref: Orphanet:617916 {source="MONDO:equivalentTo"}
xref: UMLS:C1333291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232427"}
is_a: MONDO:0005070 ! neoplasm
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia" xsd:anyURI {source="GARD:0010780"}

[Term]
id: MONDO:0022989
name: diomedi bernardi placidi syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1870/diomedi-bernardi-placidi-syndrome" xsd:anyURI {source="GARD:0001870"}

[Term]
id: MONDO:0022990
name: diphallus rachischisis imperforate anus
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1873/diphallus-rachischisis-imperforate-anus" xsd:anyURI {source="GARD:0001873"}

[Term]
id: MONDO:0022991
name: diploid-triploid mosaicism
def: "Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells." [GARD:0010715]
subset: gard_rare {source="GARD:10715", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diploid/triploid mixoploidy" RELATED [GARD:0010715]
synonym: "diploid/triploid mosaicism" RELATED [GARD:0010715]
synonym: "Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia" RELATED [GARD:0010715]
synonym: "Mosaic triploidy" RELATED [GARD:0010715]
xref: GARD:10715 {source="MONDO:GARD"}
xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:444358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548012 {source="MONDO:equivalentTo"}
xref: SCTID:10177005 {source="MONDO:equivalentTo"}
xref: UMLS:C2932665 {source="MEDGEN:444358", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder
is_a: MONDO:0019934 {source="MESH:C548012"} ! polyploidy
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism" xsd:anyURI {source="GARD:0010715"}

[Term]
id: MONDO:0022993
name: dipsogenic diabetes insipidus
def: "Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism." [NCIT:C129735]
synonym: "Dipsogenic diabetes insipidus" EXACT [NCIT:C129735]
synonym: "dipsogenic diabetes insipidus" EXACT []
synonym: "primary polydipsia" BROAD [GARD:0010703, NCIT:C129735]
xref: DOID:0081058 {source="MONDO:equivalentTo"}
xref: MEDGEN:82829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548013 {source="MONDO:equivalentTo"}
xref: NCIT:C129735 {source="MONDO:equivalentTo"}
xref: SCTID:82800008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82829"}
is_a: MONDO:0004782 {source="MESH:C548013", source="MONDO:Redundant", source="NCIT:C129735"} ! diabetes insipidus
is_a: MONDO:0040870 ! primary polydipsia
intersection_of: MONDO:0004782 ! diabetes insipidus
intersection_of: disease_arises_from_feature HP:0001959 ! Polydipsia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10703/dipsogenic-diabetes-insipidus" xsd:anyURI {source="GARD:0010703"}

[Term]
id: MONDO:0022998
name: distal arthrogryposis Moore weaver type
subset: gard_rare {source="GARD:1884", source="MONDO:GARD"}
subset: rare
synonym: "Moore Weaver syndrome" RELATED [MESH:C536814]
xref: GARD:1884 {source="MONDO:GARD"}
xref: MEDGEN:419054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536814 {source="MONDO:equivalentTo"}
xref: UMLS:C2931342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419054"}
is_a: MONDO:0008779 {source="MESH:C536814"} ! arthrogryposis
is_a: MONDO:0019942 {source="https://orcid.org/0000-0002-6601-2165"} ! distal arthrogryposis

[Term]
id: MONDO:0022999
name: distichiasis heart congenital anomalies
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1890/distichiasis-heart-congenital-anomalies" xsd:anyURI {source="GARD:0001890"}

[Term]
id: MONDO:0023000
name: obsolete dobrow syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4453" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017980

[Term]
id: MONDO:0023002
name: double discordia
synonym: "atrio-ventricular and ventriculo-arterial double Discordia" RELATED [GARD:0001905]
synonym: "corrected transposition" RELATED [GARD:0001905]
xref: MEDGEN:137675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0332941 {source="MEDGEN:137675", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1905/double-discordia" xsd:anyURI {source="GARD:0001905"}

[Term]
id: MONDO:0023003
name: double fingernail of fifth finger
comment: Editor note: consider making a grouping class with MONDO:0007469
subset: obsoletion_candidate
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_location UBERON:0003625 ! manual digit 5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger" xsd:anyURI {source="GARD:0001906"}

[Term]
id: MONDO:0023005
name: double uterus-hemivagina-renal agenesis
xref: MEDGEN:928221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4302552 {source="MEDGEN:928221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis" xsd:anyURI {source="GARD:0001910"}

[Term]
id: MONDO:0023006
name: doxorubicin induced cardiomyopathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:6285", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:6285 {source="MONDO:GARD"}
is_a: MONDO:0004994 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6285/doxorubicin-induced-cardiomyopathy" xsd:anyURI {source="GARD:0006285"}

[Term]
id: MONDO:0023007
name: Drachtman Weinblatt Sitarz syndrome
def: "A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus." [https://www.dovemed.com/diseases-conditions/drachtman-weinblatt-sitarz-syndrome/, PMID:2264478]
subset: gard_rare {source="GARD:1913", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Drachtman Weinblatt Sitarz syndrome" EXACT [MONDO:0023008]
synonym: "marrow hypoplasia associated with congenital neurologic anomalies" RELATED [GARD:0001913, MESH:C535603]
xref: GARD:1913 {source="MONDO:GARD"}
xref: MEDGEN:419292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535603 {source="MONDO:equivalentTo"}
xref: UMLS:C2930947 {source="MEDGEN:419292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0003225 {source="MESH:C535603"} ! bone marrow disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome" xsd:anyURI {source="GARD:0001913"}

[Term]
id: MONDO:0023008
name: obsolete drachtman weinblatt sitarz syndrome
is_obsolete: true
replaced_by: MONDO:0023007

[Term]
id: MONDO:0023011
name: Wilson-Mikity syndrome
subset: gard_rare {source="GARD:10495", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Pulmonary dysmaturity" RELATED [UMLS:C0270171]
synonym: "pulmonary dysmaturity" RELATED []
synonym: "Pulmonary dysmaturity syndrome" RELATED [GARD:0010495]
synonym: "Wilson-Mikity syndrome" EXACT [UMLS:C0270171]
synonym: "wilson-mikity syndrome" EXACT []
xref: GARD:10495 {source="MONDO:GARD"}
xref: MEDGEN:78714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:51577008 {source="MONDO:equivalentTo", source="UMLS:C0270171"}
xref: UMLS:C0270171 {source="MEDGEN:78714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 ! lung disorder
relationship: has_characteristic MONDO:0021136 {source="GARD:0010495"} ! rare

[Term]
id: MONDO:0023013
name: Duker-Weiss-Siber syndrome
synonym: "Duker Weiss Siber syndrome" RELATED [GARD:0001918]
synonym: "microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism" RELATED [GARD:0001918]
synonym: "microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism" RELATED DEPRECATED [GARD:0001918]
xref: MEDGEN:419689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535719 {source="MONDO:equivalentTo"}
xref: UMLS:C2930993 {source="MEDGEN:419689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0001071 {source="MESH:C535719"} ! intellectual disability
relationship: disease_has_feature MONDO:0009022 {source="MESH:C535719"} ! corpus callosum, agenesis of
relationship: disease_has_feature MONDO:0021129 {source="MESH:C535719"} ! microphthalmia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome" xsd:anyURI {source="GARD:0001918"}

[Term]
id: MONDO:0023015
name: duodenal atresia tetralogy of fallot
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1919/duodenal-atresia-tetralogy-of-fallot" xsd:anyURI {source="GARD:0001919"}

[Term]
id: MONDO:0023016
name: duplication of leg mirror foot
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1976/duplication-of-leg-mirror-foot" xsd:anyURI {source="GARD:0001976"}

[Term]
id: MONDO:0023017
name: duplication of the thumb unilateral biphalangeal
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1977/duplication-of-the-thumb-unilateral-biphalangeal" xsd:anyURI {source="GARD:0001977"}

[Term]
id: MONDO:0023018
name: dupont sellier chochillon syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome" xsd:anyURI {source="GARD:0001983"}

[Term]
id: MONDO:0023019
name: dwarfism bluish sclerae
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1984/dwarfism-bluish-sclerae" xsd:anyURI {source="GARD:0001984"}

[Term]
id: MONDO:0023020
name: dwarfism deafness retinitis pigmentosa
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1985/dwarfism-deafness-retinitis-pigmentosa" xsd:anyURI {source="GARD:0001985"}

[Term]
id: MONDO:0023021
name: dwarfism lethal type advanced bone age
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1986/dwarfism-lethal-type-advanced-bone-age" xsd:anyURI {source="GARD:0001986"}

[Term]
id: MONDO:0023022
name: dwarfism thin bones multiple fractures
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1992/dwarfism-thin-bones-multiple-fractures" xsd:anyURI {source="GARD:0001992"}

[Term]
id: MONDO:0023023
name: neonatal dacryocystitis
def: "Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection." [NCIT:C116819]
synonym: "Neonatal Dacryocystitis" RELATED [NCIT:C116819]
synonym: "Neonatal dacryocystitis" RELATED [UMLS:C0270178]
synonym: "neonatal dacryocystitis" EXACT [NCIT:C116819]
xref: MEDGEN:542581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116819 {source="MONDO:equivalentTo", source="UMLS:C0270178"}
xref: SCTID:23735003 {source="MONDO:equivalentTo", source="UMLS:C0270178"}
xref: UMLS:C0270178 {source="MEDGEN:542581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004926 {source="NCIT:C116819", source="UMLS:C0270178"} ! dacryocystitis

[Term]
id: MONDO:0023030
name: dysmorphism cleft palate loose skin
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin" xsd:anyURI {source="GARD:0002009"}

[Term]
id: MONDO:0023031
name: obsolete dysostosis acral with facial and genital abnormalities
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3711" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024455

[Term]
id: MONDO:0023035
name: Eagle syndrome
def: "Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%." [GARD:0009401]
synonym: "Eagle's syndrome" EXACT [GARD:0009401, MESH:C538010]
synonym: "elongated styloid process syndrome" EXACT [GARD:0009401, MESH:C538010, MONDO:0023037]
synonym: "elongated styloid process which causes cervico facial pain tinnitus and otalgia" RELATED [GARD:0009401]
synonym: "styloid-stylohoid syndrome" RELATED [GARD:0009401, MESH:C538010]
xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:357035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538010 {source="MONDO:equivalentTo"}
xref: SCTID:609143007 {source="MONDO:equivalentTo"}
xref: UMLS:C1868714 {source="MEDGEN:357035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0700057 {source="https://orcid.org/0000-0002-4142-7153"} ! neurological pain disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9401/eagle-syndrome" xsd:anyURI {source="GARD:0009401"}

[Term]
id: MONDO:0023037
name: obsolete elongated styloid process syndrome
is_obsolete: true
replaced_by: MONDO:0023035

[Term]
id: MONDO:0023038
name: obsolete eccentrochondrodysplasia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7206" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018938

[Term]
id: MONDO:0023039
name: eccrine mucinous carcinoma
xref: MEDGEN:577240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0346020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:577240"}
is_a: MONDO:0024240 ! eccrine carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10465/eccrine-mucinous-carcinoma" xsd:anyURI {source="GARD:0010465"}

[Term]
id: MONDO:0023040
name: ectodermal dysplasia Bartalos type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:2043 {source="MONDO:GARD"}
is_a: MONDO:0019287 {source="https://orcid.org/0000-0002-6601-2165"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2043/ectodermal-dysplasia-bartalos-type" xsd:anyURI {source="GARD:0002043"}

[Term]
id: MONDO:0023041
name: obsolete ectodermal dysplasia Berlin type
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7309" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009522

[Term]
id: MONDO:0023042
name: ectodermal dysplasia margarita type
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2050", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:2050 {source="MONDO:GARD"}
is_a: MONDO:0019287 {source="https://orcid.org/0000-0002-6601-2165"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2050/ectodermal-dysplasia-margarita-type" xsd:anyURI {source="GARD:0002050"}

[Term]
id: MONDO:0023043
name: ectodermal dysplasia alopecia preaxial polydactyly
subset: gard_rare {source="GARD:2040", source="MONDO:GARD"}
subset: rare
synonym: "absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance" RELATED [GARD:0002040, MESH:C538016]
xref: GARD:2040 {source="MONDO:GARD"}
xref: MEDGEN:419138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538016 {source="MONDO:equivalentTo"}
xref: UMLS:C2931691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419138"}
is_a: MONDO:0004907 {source="MESH:C538016", source="MONDO:Redundant"} ! alopecia
is_a: MONDO:0019287 {source="MESH:C538016", source="https://orcid.org/0000-0002-6601-2165"} ! ectodermal dysplasia syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly" xsd:anyURI {source="GARD:0002040"}

[Term]
id: MONDO:0023045
name: ectodermal dysplasia arthrogryposis diabetes mellitus
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2042", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:2042 {source="MONDO:GARD"}
is_a: MONDO:0019287 {source="https://orcid.org/0000-0002-6601-2165"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2042/ectodermal-dysplasia-arthrogryposis-diabetes-mellitus" xsd:anyURI {source="GARD:0002042"}

[Term]
id: MONDO:0023046
name: ectodermal dysplasia blindness
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0019287 {source="https://orcid.org/0000-0002-6601-2165"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness" xsd:anyURI {source="GARD:0002045"}

[Term]
id: MONDO:0023048
name: ectodermal dysplasia neurosensory deafness
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2053", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:2053 {source="MONDO:GARD"}
is_a: MONDO:0019287 {source="https://orcid.org/0000-0002-6601-2165"} ! ectodermal dysplasia syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness" xsd:anyURI {source="GARD:0002053"}

[Term]
id: MONDO:0023050
name: ectrodactyly cardiopathy dysmorphism
synonym: "ectrodactyly of lower limbs, congenital heart defect and characteristic facies" RELATED [GARD:0002063, MESH:C536187]
synonym: "Van Den Ende Brunner syndrome" RELATED [GARD:0002063, MESH:C536187]
xref: MEDGEN:419342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536187 {source="MONDO:equivalentTo"}
xref: UMLS:C2931127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419342"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2063/ectrodactyly-cardiopathy-dysmorphism" xsd:anyURI {source="GARD:0002063"}

[Term]
id: MONDO:0023052
name: obsolete ectrodactyly polydactyly
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2864" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009156

[Term]
id: MONDO:0023054
name: klumpke's paralysis
def: "Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months." [GARD:0003123]
subset: gard_rare {source="GARD:3123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Dejerine Klumpke Palsy" RELATED [MESH:D020516]
synonym: "Dejerine-Klumpke Palsy" RELATED [MESH:D020516]
synonym: "Dejerine-Klumpke palsy" RELATED [GARD:0003123]
synonym: "Klumpke Palsy" RELATED [MESH:D020516, NCIT:C116724]
synonym: "Klumpke Paralysis" RELATED [MESH:D020516]
synonym: "Klumpke paralysis" RELATED [UMLS:C0270898]
synonym: "klumpke paralysis" RELATED []
synonym: "Klumpke's Palsy" RELATED [MESH:D020516, NCIT:C116724]
synonym: "Klumpke's palsy" RELATED [GARD:0003123, UMLS:C0270898]
synonym: "klumpke's palsy" RELATED []
synonym: "Klumpke's paralysis" RELATED [UMLS:C0270898]
synonym: "klumpke's paralysis" EXACT []
synonym: "Klumpke-DC)jerine brachial plexus injury" RELATED [UMLS:C0270898]
synonym: "klumpke-dC)jerine brachial plexus injury" RELATED []
synonym: "Klumpke-DC)jerine paralysis" RELATED [UMLS:C0270898]
synonym: "klumpke-dC)jerine paralysis" EXACT []
synonym: "Klumpke-Dejerine paralysis" RELATED [UMLS:C0270898]
synonym: "klumpke-dejerine paralysis" RELATED []
synonym: "Klumpkes Palsy" RELATED [MESH:D020516]
synonym: "Lower Brachial Plexus Palsy" RELATED [MESH:D020516]
synonym: "Lower brachial plexus palsy" RELATED [GARD:0003123]
synonym: "Palsy, Dejerine-Klumpke" RELATED [MESH:D020516]
synonym: "Palsy, Klumpke's" RELATED [MESH:D020516]
synonym: "Paralysis of the Lower Brachial Plexus" RELATED [MESH:D020516]
synonym: "Paralysis, Klumpke" RELATED [MESH:D020516]
xref: GARD:3123 {source="MONDO:GARD"}
xref: MEDGEN:124376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020516 {source="UMLS:C0270898"}
xref: NCIT:C116724 {source="UMLS:C0270898", source="MONDO:equivalentTo"}
xref: SCTID:83886009 {source="UMLS:C0270898", source="MONDO:equivalentTo"}
xref: UMLS:C0270898 {source="MEDGEN:124376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006496 ! palsy
relationship: has_characteristic MONDO:0021136 {source="GARD:0003123"} ! rare

[Term]
id: MONDO:0023059
name: Elliott ludman Teebi syndrome
synonym: "multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs" RELATED [GARD:0000189]
xref: MEDGEN:443982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536204 {source="MONDO:equivalentTo"}
xref: UMLS:C2931128 {source="MEDGEN:443982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536204", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/189/elliott-ludman-teebi-syndrome" xsd:anyURI {source="GARD:0000189"}

[Term]
id: MONDO:0023061
name: enamel hypoplasia cataract hydrocephaly
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2106/enamel-hypoplasia-cataract-hydrocephaly" xsd:anyURI {source="GARD:0002106"}

[Term]
id: MONDO:0023062
name: encephalocele anencephaly
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2109/encephalocele-anencephaly" xsd:anyURI {source="GARD:0002109"}

[Term]
id: MONDO:0023065
name: obsolete encephalopathy recurrent of childhood
comment: Duplicate.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007539

[Term]
id: MONDO:0023066
name: enchondromatosis dwarfism deafness
synonym: "Wallis cremin Beighton syndrome" RELATED [GARD:0000294]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/294/enchondromatosis-dwarfism-deafness" xsd:anyURI {source="GARD:0000294"}

[Term]
id: MONDO:0023067
name: endemic Kaposi sarcoma
subset: gard_rare {source="GARD:10431", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "African Kaposi sarcoma" RELATED [GARD:0010431]
synonym: "African/endemic Kaposi sarcoma" RELATED [GARD:0010431]
xref: GARD:10431 {source="MONDO:GARD"}
xref: MEDGEN:698516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1275231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:698516"}
is_a: MONDO:0005055 ! Kaposi's sarcoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma" xsd:anyURI {source="GARD:0010431"}

[Term]
id: MONDO:0023068
name: Engelhard Yatziv syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: Orphanet:2937 {source="GARD:0002124"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2124/engelhard-yatziv-syndrome" xsd:anyURI {source="GARD:0002124"}

[Term]
id: MONDO:0023069
name: enlarged vestibular aqueduct syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "enlarged vestibular aqueduct" RELATED [DOID:0050332]
synonym: "enlarged vestibular aqueduct syndrome" EXACT CLINGEN_LABEL []
synonym: "large vestibular aqueduct syndrome" RELATED [GARD:0008651]
xref: DOID:0050332 {source="MONDO:equivalentTo"}
xref: MEDGEN:355050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1863752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355050"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_location UBERON:0002279 ! vestibular aqueduct
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome" xsd:anyURI {source="GARD:0008651"}

[Term]
id: MONDO:0023071
name: enterovirus antenatal infection
is_a: MONDO:0005747 ! enterovirus infectious disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2130/enterovirus-antenatal-infection" xsd:anyURI {source="GARD:0002130"}

[Term]
id: MONDO:0023072
name: obsolete envenomization by Bothrops lanceolatus
synonym: "Envenomization by the Martinique lancehead viper" RELATED [GARD:0002131]
xref: Orphanet:1939 {source="GARD:0002131", source="MONDO:obsoleteEquivalentObsolete"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2131/envenomization-by-bothrops-lanceolatus" xsd:anyURI {source="GARD:0002131"}
is_obsolete: true

[Term]
id: MONDO:0023073
name: eosinophilic cryptitis
def: "Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications." [GARD:0006347]
synonym: "eosinophilic cystitis" RELATED [GARD:0006347]
xref: ICD9:595.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:148162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:445918001 {source="MONDO:equivalentTo"}
xref: UMLS:C0742965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148162"}
is_a: MONDO:0006032 {source="MONDO:Redundant"} ! cystitis
relationship: disease_has_inflammation_site UBERON:0001255 ! urinary bladder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6346/eosinophilic-cryptitis" xsd:anyURI {source="GARD:0006346"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6347/eosinophilic-cystitis" xsd:anyURI {source="GARD:0006347"}

[Term]
id: MONDO:0023076
name: eosinophilic pustular folliculitis
def: "Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition." [GARD:0008534]
subset: gard_rare {source="GARD:8534", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "eosinophilic folliculitis" RELATED [GARD:0008534]
synonym: "eosinophilic folliculitis, pustular" RELATED [GARD:0008534, MESH:C535953]
synonym: "EPF" RELATED ABBREVIATION [GARD:0008534]
synonym: "Ofuji disease" RELATED [GARD:0008534, MESH:C535953]
synonym: "Ofuji's disease" RELATED [GARD:0008534, MESH:C535953]
xref: GARD:8534 {source="MONDO:GARD"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:140800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535953 {source="MONDO:equivalentTo"}
xref: SCTID:95333004 {source="MONDO:equivalentTo"}
xref: UMLS:C0406305 {source="MEDGEN:140800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006552 {source="MESH:C535953"} ! folliculitis
is_a: MONDO:0006617 {source="MESH:C535953"} ! vesiculobullous skin disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis" xsd:anyURI {source="GARD:0008534"}

[Term]
id: MONDO:0023079
name: epidermal nevus vitamin D resistant rickets
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2136/epidermal-nevus-vitamin-d-resistant-rickets" xsd:anyURI {source="GARD:0002136"}

[Term]
id: MONDO:0023083
name: epimetaphyseal dysplasia cataract
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2175/epimetaphyseal-dysplasia-cataract" xsd:anyURI {source="GARD:0002175"}

[Term]
id: MONDO:0023084
name: epiphyseal dysplasia dysmorphism camptodactyly
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2177/epiphyseal-dysplasia-dysmorphism-camptodactyly" xsd:anyURI {source="GARD:0002177"}

[Term]
id: MONDO:0023089
name: erythroplakia
def: "A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma." [NCIT:C3025]
synonym: "erythroplakia" EXACT [NCIT:C3025]
xref: MEDGEN:41862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3025 {source="MONDO:equivalentTo"}
xref: UMLS:C0014818 {source="MEDGEN:41862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="EFO:1001786"} ! neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6378/erythroplakia" xsd:anyURI {source="GARD:0006378"}

[Term]
id: MONDO:0023091
name: esophageal atresia coloboma talipes
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2196/esophageal-atresia-coloboma-talipes" xsd:anyURI {source="GARD:0002196"}

[Term]
id: MONDO:0023093
name: exertional headache
synonym: "primary Exertional headache" RELATED [GARD:0010800]
synonym: "primary headache associated with sexual activity" RELATED [GARD:0010800]
xref: MEDGEN:1780177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2363911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780177"}
is_a: MONDO:0021146 ! headache disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10800/exertional-headache" xsd:anyURI {source="GARD:0010800"}

[Term]
id: MONDO:0023094
name: exogenous ochronosis
def: "Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria." [GARD:0010757]
synonym: "exogenous ochronosis" EXACT [MESH:C531762]
synonym: "ochronosis, acquired" RELATED [GARD:0010757]
synonym: "ocular ochronosis" RELATED [MESH:C531762]
synonym: "pseudo-ochronosis" RELATED [MESH:C531762]
xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:303182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531762 {source="MONDO:equivalentTo"}
xref: SCTID:410041002 {source="MONDO:equivalentTo"}
xref: UMLS:C1444199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:303182"}
is_a: MONDO:0001910 {source="MESH:C531762"} ! ochronosis disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10757/exogenous-ochronosis" xsd:anyURI {source="GARD:0010757"}

[Term]
id: MONDO:0023097
name: obsolete exostoses anetodermia brachydactyly type E
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/405" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0023098
name: extrasystoles short stature hyperpigmentation microcephaly
synonym: "Char douglas Dungan syndrome" RELATED [GARD:0002213]
xref: MEDGEN:1660843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4749763 {source="MEDGEN:1660843", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly" xsd:anyURI {source="GARD:0002213"}

[Term]
id: MONDO:0023099
name: FRAXD syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2377", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "FRAXD" RELATED ABBREVIATION [GARD:0002377]
xref: GARD:2377 {source="MONDO:GARD"}
is_a: MONDO:0019040 {source="PMID:1532475", source="PMID:1605182"} ! chromosomal disorder
relationship: disease_arises_from_structure CHR:9606-chrXq27.2 {source="PMID:1532475", source="PMID:1605182"} ! Xq27.2 (Human)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3948 {source="https://orcid.org/0000-0002-6601-2165"} ! FRAXD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2377/fraxd" xsd:anyURI {source="GARD:0002377"}

[Term]
id: MONDO:0023100
name: facial clefting corpus callosum agenesis
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2220/facial-clefting-corpus-callosum-agenesis" xsd:anyURI {source="GARD:0002220"}

[Term]
id: MONDO:0023101
name: facio digito genital syndrome recessive form
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2226/facio-digito-genital-syndrome-recessive-form" xsd:anyURI {source="GARD:0002226"}

[Term]
id: MONDO:0023102
name: facio skeletal genital syndrome rippberger type
synonym: "Ripperger Aase syndrome" RELATED [GARD:0002227]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2227/facio-skeletal-genital-syndrome-rippberger-type" xsd:anyURI {source="GARD:0002227"}

[Term]
id: MONDO:0023106
name: Fairbank disease
synonym: "dysplasia epiphysealis multiplex" RELATED [MESH:C536393]
synonym: "epiphyseal dysplasia Fairbank type" RELATED [MESH:C536393]
synonym: "epiphyseal dysplasia, Fairbank type" RELATED [MESH:C536393]
synonym: "epiphyseal dysplasia, ribbing type" RELATED [MESH:C536393]
synonym: "Fairbank multiple epiphyseal dysplasia" RELATED [MESH:C536393]
xref: MEDGEN:343598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536393 {source="MONDO:equivalentTo"}
xref: UMLS:C1851537 {source="MEDGEN:343598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="MESH:C536393"} ! osteochondrodysplasia

[Term]
id: MONDO:0023111
name: familial capillaro-venous leptomeningeal angiomatosis
xref: MEDGEN:419030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536609 {source="MONDO:equivalentTo"}
xref: UMLS:C2931262 {source="MONDO:equivalentTo", source="MEDGEN:419030", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9423/familial-capillaro-venous-leptomeningeal-angiomatosis" xsd:anyURI {source="GARD:0009423"}

[Term]
id: MONDO:0023113
name: familial colorectal cancer
def: "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." [GARD:0008533]
subset: gard_rare {source="GARD:8533", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colorectal cancer, familial" RELATED [GARD:0008533]
synonym: "hereditary colorectal cancer" EXACT [MONDO:patterns/hereditary]
xref: GARD:8533 {source="MONDO:GARD"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
intersection_of: MONDO:0005575 ! colorectal cancer
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer" xsd:anyURI {source="GARD:0008533"}

[Term]
id: MONDO:0023119
name: familial myelofibrosis
subset: gard_rare {source="GARD:8516", source="MONDO:GARD"}
subset: rare
xref: GARD:8516 {source="MONDO:GARD"}
xref: MEDGEN:444034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536848 {source="MONDO:equivalentTo"}
xref: UMLS:C2931351 {source="MEDGEN:444034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009692 {source="MESH:C536848"} ! primary myelofibrosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8516/familial-myelofibrosis" xsd:anyURI {source="GARD:0008516"}

[Term]
id: MONDO:0023121
name: familial partial paralysis
synonym: "partial paralysis, familial" RELATED [GARD:0008607]
xref: GTR:AN0100894
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8607/familial-partial-paralysis" xsd:anyURI {source="GARD:0008607"}

[Term]
id: MONDO:0023122
name: familial prostate carcinoma
def: "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." [NCIT:C103817]
subset: gard_rare {source="GARD:4520", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1331"}
subset: orphanet_rare {source="Orphanet:1331"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial prostate cancer" EXACT [GTR:AN0101368]
synonym: "hereditary prostate cancer" EXACT [GTR:AN0101369, MONDO:patterns/hereditary, NCIT:C103817]
synonym: "hereditary prostate carcinoma" EXACT [NCIT:C103817]
synonym: "prostate cancer, autosomal dominant, somatic mutation" EXACT [OMIM:176807, OMIM:genemap2]
synonym: "prostate cancer, familial" RELATED [GARD:0004520]
synonym: "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:176807, OMIM:genemap2]
synonym: "prostate cancer, hereditary" RELATED [GARD:0004520]
synonym: "prostate cancer, somatic" EXACT [OMIM:176807, OMIM:genemap2]
synonym: "prostate cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:176807, OMIM:genemap2]
xref: GARD:4520 {source="MONDO:GARD"}
xref: GTR:AN0101368
xref: GTR:AN0101369
xref: MEDGEN:419810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537243 {source="Orphanet:1331", source="Orphanet:1331/e"}
xref: NCIT:C103817 {source="MONDO:equivalentTo"}
xref: OMIM:176807 {source="Orphanet:1331/ntbt", source="Orphanet:1331", source="MONDO:equivalentTo", source="DOID:10283"}
xref: Orphanet:1331 {source="GARD:0004520", source="MONDO:equivalentTo", source="OMIM:176807", source="DOID:10283"}
xref: SCTID:715412008 {source="MONDO:equivalentTo"}
xref: UMLS:C2931456 {source="MEDGEN:419810", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005159 {source="NCIT:C103817"} ! prostate carcinoma
is_a: MONDO:0008315 {source="MONDO:Redundant", source="NCIT:C103817/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! prostate cancer
intersection_of: MONDO:0005159 ! prostate carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer" xsd:anyURI {source="GARD:0004520"}

[Term]
id: MONDO:0023124
name: familial pulmonary arterial hypertension leucopenia and atrial septal defect
synonym: "familial PAH, leucopenia and ASD" RELATED [GARD:0010455]
synonym: "familial pulmonary arterial hypertension, leucopenia and ASD" RELATED [GARD:0010455]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10455/familial-pulmonary-arterial-hypertension-leucopenia-and-atrial-septal-defect" xsd:anyURI {source="GARD:0010455"}

[Term]
id: MONDO:0023129
name: obsolete Fara Chlupackova syndrome
subset: nord_rare {source="MONDO:NORD"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7177" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008163

[Term]
id: MONDO:0023133
name: Faye-Petersen-Ward-Carey syndrome
xref: MEDGEN:419797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537076 {source="MONDO:equivalentTo"}
xref: UMLS:C2931417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419797"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0005044 {source="MESH:C537076"} ! hypertensive disorder
relationship: disease_has_feature MONDO:0005516 {source="MESH:C537076"} ! osteochondrodysplasia
relationship: disease_has_feature MONDO:0009022 {source="MESH:C537076"} ! corpus callosum, agenesis of

[Term]
id: MONDO:0023134
name: febrile ulceronecrotic Mucha-Habermann disease
def: "Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death." [GARD:0009516]
subset: gard_rare {source="GARD:9516", source="MONDO:GARD"}
subset: rare
synonym: "A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)" RELATED [GARD:0009516]
synonym: "febrile ulceronecrotic Mucha-Habermann disease" EXACT []
synonym: "febrile ulceronecrotic pityriasis lichenoides acuta" EXACT []
synonym: "FUMHD" RELATED ABBREVIATION [GARD:0009516]
synonym: "ulceronecrotic Mucha-Habermann disease" RELATED [GARD:0009516, MESH:C537077]
synonym: "variant of Mucha-Habermann disease" RELATED [GARD:0009516]
xref: GARD:9516 {source="MONDO:GARD"}
xref: MEDGEN:266145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537077 {source="MONDO:equivalentTo"}
xref: SCTID:402860008 {source="MONDO:equivalentTo"}
xref: UMLS:C1274297 {source="MEDGEN:266145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024250 {source="GARD:0009516-text", source="https://orcid.org/0000-0002-6601-2165"} ! acute lichenoid pityriasis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease" xsd:anyURI {source="GARD:0009516"}

[Term]
id: MONDO:0023137
name: feigenbaum Bergeron syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2280/feigenbaum-bergeron-syndrome" xsd:anyURI {source="GARD:0002280"}

[Term]
id: MONDO:0023138
name: Feingold trainer syndrome
synonym: "unusual facies, cleft palate, short stature, and intellectual disability" RELATED [GARD:0002282, MESH:C536179]
synonym: "unusual facies, cleft palate, short stature, and mental retardation" RELATED DEPRECATED [GARD:0002282, MESH:C536179]
xref: MEDGEN:419341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536179 {source="MONDO:equivalentTo"}
xref: UMLS:C2931126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419341"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0001071 {source="MESH:C536179"} ! intellectual disability
relationship: disease_has_feature MONDO:0016064 {source="MESH:C536179"} ! cleft palate
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2282/feingold-trainer-syndrome" xsd:anyURI {source="GARD:0002282"}

[Term]
id: MONDO:0023140
name: obsolete fenton Wilkinson Toselano syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7181" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015248

[Term]
id: MONDO:0023141
name: obsolete antihypertensive drugs antenatal exposure syndrome
comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it.
synonym: "antihypertensive drugs antenatal exposure" RELATED [GARD:0000733]
synonym: "fetal antihypertensive drugs syndrome" RELATED [GARD:0000733]
xref: GARD:0000733 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/141" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0023142
name: fetal brain disruption sequence
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2297/fetal-brain-disruption-sequence" xsd:anyURI {source="GARD:0002297"}

[Term]
id: MONDO:0023143
name: fetal enterovirus syndrome
subset: gard_rare {source="GARD:2302", source="MONDO:GARD"}
subset: rare
xref: GARD:2302 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
intersection_of: MONDO:0016511 ! infectious embryofetopathy
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation
intersection_of: MONDO:0100332 NCBITaxon:12059 ! disease has primary infectious agent Enterovirus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome" xsd:anyURI {source="GARD:0002302"}

[Term]
id: MONDO:0023147
name: fetal parainfluenza virus type 3 syndrome
def: "A syndrome caused by HPIV-3." [http://cmr.asm.org/content/16/2/242.full]
subset: gard_rare {source="GARD:2309", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Human respirovirus 3 caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Human respirovirus 3 infectious embryofetopathy" EXACT []
xref: GARD:2309 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
intersection_of: MONDO:0016511 ! infectious embryofetopathy
intersection_of: MONDO:0100332 NCBITaxon:11216 ! disease has primary infectious agent Human respirovirus 3
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome" xsd:anyURI {source="GARD:0002309"}

[Term]
id: MONDO:0023148
name: fetal phenothiazine syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2311", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:2311 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0016677 {source="https://orcid.org/0000-0002-6601-2165"} ! toxic or drug-related embryofetopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2311/fetal-phenothiazine-syndrome" xsd:anyURI {source="GARD:0002311"}

[Term]
id: MONDO:0023149
name: infection due to clostridium perfringens
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1922"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "C. perfringens infection" RELATED [GARD:0011970]
synonym: "Clostridial Myonecrosis" EXACT [NORD:1922]
synonym: "Clostridium perfringens Infection" RELATED [MESH:D003015]
synonym: "Clostridium perfringens infection" RELATED [UMLS:C0275619]
synonym: "Clostridium perfringens Infections" RELATED [MESH:D003015]
synonym: "Infection caused by Clostridium perfringens" RELATED [UMLS:C0275619]
synonym: "Infection due to Clostridium perfringens" RELATED [UMLS:C0275619]
synonym: "Infection, Clostridium perfringens" RELATED [MESH:D003015]
synonym: "Infections, Clostridium perfringens" RELATED [MESH:D003015]
xref: MEDGEN:546696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003015 {source="UMLS:C0275619"}
xref: NORD:1922 {source="MONDO:NORD"}
xref: SCTID:65154009 {source="UMLS:C0275619", source="MONDO:equivalentTo"}
xref: UMLS:C0275619 {source="MEDGEN:546696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024388 ! Clostridium infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1502 ! Clostridium perfringens
relationship: has_characteristic MONDO:0021136 {source="GARD:0011970"} ! rare

[Term]
id: MONDO:0023152
name: fibrocartilaginous embolism
def: "Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy." [GARD:0009718]
synonym: "embolism, fibrocartilaginous" RELATED [GARD:0009718, MESH:C537927]
xref: MEDGEN:419466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537927 {source="MONDO:equivalentTo"}
xref: UMLS:C2931666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419466"}
is_a: MONDO:0005385 {source="MESH:C537927/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! vascular disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9718/fibrocartilaginous-embolism" xsd:anyURI {source="GARD:0009718"}

[Term]
id: MONDO:0023153
name: tuberculous ascites
def: "A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum." [doi:10.5772/intechopen.70417, https://orcid.org/0000-0002-6670-9157]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tuberculous ascites" EXACT [NCIT:C27076, UMLS:C0275919]
xref: MEDGEN:78815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27076 {source="MONDO:equivalentTo", source="UMLS:C0275919"}
xref: SCTID:4501007 {source="MONDO:equivalentTo", source="UMLS:C0275919"}
xref: UMLS:C0275919 {source="MEDGEN:78815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000369 {source="https://orcid.org/0000-0002-6670-9157"} ! abdominal tuberculosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0018076 {source="NCIT:C27076", source="UMLS:C0275919", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis

[Term]
id: MONDO:0023154
name: fibromatosis multiple non ossifying
synonym: "disseminated nonossifying fibromas in association with cafe-au-lait spots" RELATED [GARD:0000309]
synonym: "Jaffe Campanacci syndrome" RELATED [GARD:0000309]
xref: MEDGEN:450548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:715432009 {source="MONDO:equivalentTo"}
xref: UMLS:C0796000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:450548"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying" xsd:anyURI {source="GARD:0000309"}

[Term]
id: MONDO:0023155
name: fibula aplasia complex brachydactyly
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2329/fibula-aplasia-complex-brachydactyly" xsd:anyURI {source="GARD:0002329"}

[Term]
id: MONDO:0023156
name: obsolete fibular aplasia
is_obsolete: true
consider: HP:0002990

[Term]
id: MONDO:0023157
name: fibular hypoplasia scapulo pelvic dysplasia absent
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2333/fibular-hypoplasia-scapulo-pelvic-dysplasia-absent" xsd:anyURI {source="GARD:0002333"}

[Term]
id: MONDO:0023158
name: Fitz-Hugh-Curtis syndrome
def: "Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics." [GARD:0006452]
comment: Editor note: check taxon
synonym: "gonococcal perihepatitis" NARROW [GARD:0006452, MESH:C537936]
synonym: "perihepatitis syndrome" RELATED [GARD:0006452, MESH:C537936]
xref: MEDGEN:639814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537936 {source="MONDO:equivalentTo"}
xref: SCTID:237041005 {source="MONDO:equivalentTo"}
xref: UMLS:C0549148 {source="MEDGEN:639814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000922 {source="MESH:C537936"} ! pelvic inflammatory disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0021697 {source="MESH:C537936", source="https://orcid.org/0000-0001-5208-3432"} ! chlamydia infectious disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6452/fitz-hugh-curtis-syndrome" xsd:anyURI {source="GARD:0006452"}

[Term]
id: MONDO:0023161
name: viral myocarditis
def: "Myocarditis that is caused by an infection with a viral agent." [NCIT:C128381]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Viral Myocarditis" RELATED [NCIT:C128381]
synonym: "Viral myocarditis" RELATED [UMLS:C0276138]
synonym: "viral myocarditis" EXACT [NCIT:C128381]
xref: MEDGEN:547112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128381 {source="MONDO:equivalentTo", source="UMLS:C0276138"}
xref: SCTID:89141000 {source="MONDO:equivalentTo", source="UMLS:C0276138"}
xref: UMLS:C0276138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547112"}
is_a: MONDO:0004496 {source="NCIT:C128381", source="UMLS:C0276138"} ! myocarditis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0002349 ! myocardium
intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious agent Viruses

[Term]
id: MONDO:0023164
name: viral pericarditis
def: "Pericarditis that is caused by an infection with a viral agent." [NCIT:C128405]
synonym: "Viral Pericarditis" RELATED [NCIT:C128405]
synonym: "Viral pericarditis" RELATED [UMLS:C0276139]
synonym: "viral pericarditis" EXACT [NCIT:C128405]
xref: MEDGEN:547113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128405 {source="MONDO:equivalentTo", source="UMLS:C0276139"}
xref: SCTID:70189005 {source="MONDO:equivalentTo", source="UMLS:C0276139"}
xref: UMLS:C0276139 {source="MEDGEN:547113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005904 {source="NCIT:C128405"} ! pericarditis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0002407 ! pericardium
intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious agent Viruses

[Term]
id: MONDO:0023165
name: florid cystic endosalpingiosis of the uterus
synonym: "cystic endosalpingiosis of the uterus" RELATED [GARD:0000130, MESH:C537064]
synonym: "florid cystic endosalpingiosis" RELATED []
synonym: "intramural florid cystic endosalpingiosis in lower uterine segment of the uterus" RELATED [PMID:25675925]
synonym: "intramural florid cystic endosalpingiosis of the uterus" RELATED [PMID:25675925]
xref: MEDGEN:419405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537064 {source="MONDO:equivalentTo"}
xref: UMLS:C2931410 {source="MEDGEN:419405", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001283 {source="https://orcid.org/0000-0002-6601-2165"} ! endosalpingiosis
relationship: disease_has_location UBERON:0000995 ! uterus
relationship: excluded_subClassOf MONDO:0005596 {source="MESH:C537064", source="https://orcid.org/0000-0001-5208-3432"} ! cystadenocarcinoma
relationship: has_characteristic MONDO:0021136 ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/130/florid-cystic-endosalpingiosis-of-the-uterus" xsd:anyURI {source="GARD:0000130"}

[Term]
id: MONDO:0023167
name: focal alopecia congenital megalencephaly
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2349/focal-alopecia-congenital-megalencephaly" xsd:anyURI {source="GARD:0002349"}

[Term]
id: MONDO:0023170
name: focal or multifocal malformations in neuronal migration
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2350/focal-or-multifocal-malformations-in-neuronal-migration" xsd:anyURI {source="GARD:0002350"}

[Term]
id: MONDO:0023171
name: foix chavany Marie syndrome
def: "Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved." [Orphanet:2048]
subset: gard_rare {source="GARD:2351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2048"}
subset: orphanet_rare {source="Orphanet:2048"}
subset: rare
synonym: "anterior opercular syndrome" RELATED [MESH:C537069]
synonym: "bilateral anterior opercular syndrome" RELATED [MESH:C537069]
synonym: "congenital Foix-Chavany-Marie syndrome" RELATED [MESH:C537069]
synonym: "congenital Foix-Chavany-Marie syndrome (subtype)" RELATED [GARD:0002351]
synonym: "facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis" RELATED [MESH:C537069]
synonym: "facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation" RELATED [GARD:0002351, MESH:C537069]
synonym: "facio-pharyngo-glosso-masticatory diplegia" RELATED []
synonym: "foix chavany Marie syndrome" EXACT []
synonym: "opercular syndrome, anterior" RELATED [MESH:C537069]
synonym: "pseudobulbar paralysis, cortical type" RELATED [MESH:C537069]
xref: GARD:2351 {source="MONDO:GARD"}
xref: MEDGEN:419406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537069 {source="MONDO:equivalentTo"}
xref: Orphanet:2048 {source="MONDO:equivalentTo"}
xref: SCTID:720956003 {source="MONDO:equivalentTo"}
xref: UMLS:C2931412 {source="MEDGEN:419406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001819 ! multiple cranial nerve palsy
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0001835 {source="MESH:C537069"} ! facial paralysis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome" xsd:anyURI {source="GARD:0002351"}

[Term]
id: MONDO:0023174
name: obsolete follicular lymphoreticuloma
comment: Editor note: check hodgkin's disease, lymphocyte depletion, reticular
xref: NCIT:C66847
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2357/follicular-lymphoreticuloma" xsd:anyURI {source="GARD:0002357"}
is_obsolete: true

[Term]
id: MONDO:0023175
name: Fontaine farriaux blanckaert syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:2358", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:2358 {source="MONDO:GARD"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2358/fontaine-farriaux-blanckaert-syndrome" xsd:anyURI {source="GARD:0002358"}

[Term]
id: MONDO:0023176
name: formaldehyde poisoning
subset: gard_rare {source="GARD:2361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1155"}
subset: rare
synonym: "formaldehyde exposure" RELATED [MESH:C537268]
synonym: "formaldehyde toxicity" RELATED [GARD:0002361, MESH:C537268]
synonym: "Formalin intoxication" RELATED [GARD:0002361, MESH:C537268]
synonym: "Formalin toxicity" RELATED [GARD:0002361, MESH:C537268]
xref: GARD:2361 {source="MONDO:GARD"}
xref: MESH:C537268 {source="MONDO:equivalentTo"}
xref: NORD:1155 {source="MONDO:NORD"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0002-6601-2165"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:16842 ! formaldehyde
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning" xsd:anyURI {source="GARD:0002361"}

[Term]
id: MONDO:0023178
name: fragile X syndrome type 1
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: inferred_rare
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0010383 {source="https://orcid.org/0000-0001-5208-3432"} ! fragile X syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2366/fragile-x-syndrome-type-1" xsd:anyURI {source="GARD:0002366"}

[Term]
id: MONDO:0023179
name: fragile X syndrome type 2
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: inferred_rare
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0010383 {source="https://orcid.org/0000-0001-5208-3432"} ! fragile X syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2367/fragile-x-syndrome-type-2" xsd:anyURI {source="GARD:0002367"}

[Term]
id: MONDO:0023180
name: fragile X syndrome type 3
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: inferred_rare
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0010383 {source="https://orcid.org/0000-0001-5208-3432"} ! fragile X syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2368/fragile-x-syndrome-type-3" xsd:anyURI {source="GARD:0002368"}

[Term]
id: MONDO:0023182
name: Franceschini Vardeu Guala syndrome
subset: gard_rare {source="GARD:2371", source="MONDO:GARD"}
subset: rare
xref: GARD:2371 {source="MONDO:GARD"}
xref: MEDGEN:419814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537272 {source="MONDO:equivalentTo"}
xref: UMLS:C2931463 {source="MEDGEN:419814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007534 {source="MESH:C537272"} ! Beckwith-Wiedemann syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome" xsd:anyURI {source="GARD:0002371"}

[Term]
id: MONDO:0023186
name: Fraser Jequier Chen syndrome
synonym: "chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs" RELATED [GARD:0002373]
xref: MEDGEN:419665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535481 {source="MONDO:equivalentTo"}
xref: UMLS:C2930912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419665"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0005516 {source="MESH:C535481"} ! osteochondrodysplasia
relationship: disease_has_feature MONDO:0010029 {source="MESH:C535481"} ! situs inversus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2373/fraser-jequier-chen-syndrome" xsd:anyURI {source="GARD:0002373"}

[Term]
id: MONDO:0023188
name: Freiberg disease
def: "Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient." [GARD:0002380]
subset: gard_rare {source="GARD:2380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:564003"}
subset: orphanet_rare {source="Orphanet:564003"}
subset: rare
synonym: "Freiberg's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant]
synonym: "Freiberg's infraction" RELATED [GARD:0002380, MESH:C535636]
synonym: "Freiberg-Kohler syndrome" RELATED [GARD:0002380, MESH:C535636]
synonym: "Kohler's second disease" RELATED [GARD:0002380, MESH:C535636]
synonym: "Osteochondrosis of the metatarsal head, usually the second" RELATED [GARD:0002380]
synonym: "second metatarsal osteochondrosis" RELATED [GARD:0002380, MESH:C535636]
xref: GARD:2380 {source="MONDO:GARD"}
xref: MEDGEN:75532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535636 {source="MONDO:equivalentTo"}
xref: Orphanet:564003 {source="MONDO:equivalentTo"}
xref: SCTID:28466007 {source="MONDO:equivalentTo"}
xref: UMLS:C0264099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75532"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0018381 {source="PMID:30685014", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! osteochondrosis
relationship: disease_has_location UBERON:0001448 ! metatarsal bone
relationship: excluded_subClassOf MONDO:0016086 {source="https://orcid.org/0000-0001-5208-3432"} ! osteochondritis of tarsal/metatarsal bone
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease" xsd:anyURI {source="GARD:0002380"}

[Term]
id: MONDO:0023191
name: obsolete Freire-Maia odontotrichomelic syndrome
comment: Duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2579" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010111

[Term]
id: MONDO:0023193
name: Friedman Goodman syndrome
comment: Reason: duplicate. This will be merged with MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7178" xsd:anyURI
property_value: IAO:0006012 "2024-04-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2387/friedman-goodman-syndrome" xsd:anyURI {source="GARD:0002387"}

[Term]
id: MONDO:0023194
name: obsolete frints de Smet Fabry Fryns syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7197" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015516

[Term]
id: MONDO:0023196
name: frontonasal malformation cloacal exstrophy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "fronto nasal malformation cloacal exstrophy" RELATED [GARD:0002389]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2389/fronto-nasal-malformation-cloacal-exstrophy" xsd:anyURI {source="GARD:0002389"}

[Term]
id: MONDO:0023197
name: frontonasal dysplasia Klippel feil syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: Orphanet:1828 {source="GARD:0002394"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome
relationship: disease_has_feature MONDO:0016643 ! frontonasal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2394/frontonasal-dysplasia-klippel-feil-syndrome" xsd:anyURI {source="GARD:0002394"}

[Term]
id: MONDO:0023199
name: frontonasal dysplasia phocomelic upper limbs
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0016643 ! frontonasal dysplasia
relationship: disease_has_feature MONDO:0017441 ! congenital absence of upper arm and forearm with hand present
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2395/frontonasal-dysplasia-phocomelic-upper-limbs" xsd:anyURI {source="GARD:0002395"}

[Term]
id: MONDO:0023200
name: Fryns Fabry Remans syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2407/fryns-fabry-remans-syndrome" xsd:anyURI {source="GARD:0002407"}

[Term]
id: MONDO:0023201
name: Fryns Smeets Thiry syndrome
subset: gard_rare {source="GARD:2409", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2058"}
subset: orphanet_rare {source="Orphanet:2058"}
subset: rare
xref: GARD:2409 {source="MONDO:GARD"}
xref: MEDGEN:1803270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2058 {source="MONDO:equivalentTo"}
xref: UMLS:C5680810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803270"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome" xsd:anyURI {source="GARD:0002409"}

[Term]
id: MONDO:0023203
name: Fuchs atrophia gyrata chorioideae et retinae
xref: MEDGEN:444126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538071 {source="MONDO:equivalentTo"}
xref: UMLS:C2931721 {source="MONDO:equivalentTo", source="MEDGEN:444126", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease

[Term]
id: MONDO:0023204
name: Fukuda-Miyanomae-Nakata syndrome
subset: gard_rare {source="GARD:2411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Cerebromuscular dystrophy, Fukuyama type" RELATED [GARD:0006475]
synonym: "FCMD" RELATED ABBREVIATION [GARD:0006475]
synonym: "Fukuyama type muscular dystrophy" RELATED [GARD:0006475]
synonym: "muscular dystrophy, congenital progressive, with intellectual disability" RELATED [GARD:0006475]
synonym: "muscular dystrophy, congenital progressive, with mental retardation" RELATED DEPRECATED [GARD:0006475]
synonym: "muscular dystrophy, congenital, Fukuyama type" RELATED [GARD:0006475]
synonym: "muscular dystrophy, congenital, with central nervous system involvement" RELATED [GARD:0006475]
xref: GARD:2411 {source="MONDO:GARD"}
xref: Orphanet:2060 {source="MONDO:equivalentObsolete"}
xref: Orphanet:272 {source="GARD:0006475", source="MONDO:directSiblingOf"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0020121 ! muscular dystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome" xsd:anyURI {source="GARD:0002411"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6475/fukuyama-type-muscular-dystrophy" xsd:anyURI {source="GARD:0006475"}

[Term]
id: MONDO:0023206
name: functional pancreatic neuroendocrine tumor
def: "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion." [NCIT:C45840]
subset: disease_grouping
subset: gard_rare {source="GARD:22053", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:506060"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "functional pancreatic NET" EXACT [NCIT:C45840]
synonym: "functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45840]
synonym: "functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506060]
synonym: "functioning neuroendocrine tumour of pancreas" RELATED OMO:0003005 []
synonym: "functioning pancreatic endocrine tumor" EXACT [NCIT:C45840]
synonym: "functioning pancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "functioning pancreatic NET" EXACT [NCIT:C45840, Orphanet:506060]
synonym: "functioning pancreatic neuroendocrine tumor" EXACT [NCIT:C45840, Orphanet:506060]
synonym: "functioning pancreatic neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "functioning PNET" EXACT [Orphanet:506060]
synonym: "functioning well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C45840]
synonym: "functioning well differentiated pancreatic endocrine tumor" EXACT [NCIT:C45840]
synonym: "functioning well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "functioning well-differentiated NEN of pancreas" EXACT [Orphanet:506060]
synonym: "functioning well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506060]
synonym: "functioning well-differentiated pancreatic NEN" EXACT [Orphanet:506060]
synonym: "functioning well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506060]
synonym: "syndromic pancreatic NET" EXACT [NCIT:C45840]
synonym: "syndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45840]
synonym: "syndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 []
xref: GARD:22053 {source="MONDO:GARD"}
xref: MEDGEN:310778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45840 {source="MONDO:equivalentTo"}
xref: Orphanet:506060 {source="MONDO:equivalentTo"}
xref: UMLS:C1708107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:310778"}
is_a: MONDO:0019954 {source="MONDO:Redundant", source="NCIT:C45840", source="Orphanet:506060"} ! pancreatic neuroendocrine tumor
is_a: MONDO:0021120 {source="MONDO:Redundant", source="NCIT:C45840"} ! functioning endocrine neoplasm
intersection_of: MONDO:0019954 {source="NCIT:C45840"} ! pancreatic neuroendocrine tumor
intersection_of: MONDO:0021120 {source="NCIT:C45840"} ! functioning endocrine neoplasm
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2414/functioning-pancreatic-endocrine-tumor" xsd:anyURI {source="GARD:0002414"}

[Term]
id: MONDO:0023208
name: Fuqua Berkovitz syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2415/fuqua-berkovitz-syndrome" xsd:anyURI {source="GARD:0002415"}

[Term]
id: MONDO:0023209
name: galactorrhoea-hyperprolactinaemia
subset: gard_rare {source="GARD:8400", source="MONDO:GARD"}
subset: rare
synonym: "galactorrhea-hyperprolactinemia" RELATED [GARD:0008400]
synonym: "galactorrhoea-hyperprolactinaemia" EXACT [MESH:C535402]
synonym: "hyperprolactinaemia" RELATED [GARD:0008400]
xref: GARD:8400 {source="MONDO:GARD"}
xref: MEDGEN:419279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535402 {source="MONDO:equivalentTo"}
xref: UMLS:C2930894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419279"}
is_a: MONDO:0005804 {source="MESH:C535402", source="MONDO:Redundant"} ! hyperprolactinemia
is_a: MONDO:0009256 {source="MESH:C535402"} ! galactorrhea
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia" xsd:anyURI {source="GARD:0008400"}

[Term]
id: MONDO:0023212
name: Garret-Tripp syndrome
synonym: "Garret Tripp syndrome" RELATED [GARD:0002435]
synonym: "Intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" RELATED [GARD:0002435]
synonym: "intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" RELATED [MESH:C535646]
synonym: "mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" RELATED DEPRECATED [MESH:C535646]
synonym: "polydactyly alopecia seborrheic dermatitis" RELATED [GARD:0002435]
xref: MEDGEN:419297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535646 {source="MONDO:equivalentTo"}
xref: Orphanet:2914 {source="GARD:0002435"}
xref: UMLS:C2930965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419297"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0001071 {source="MESH:C535646"} ! intellectual disability
relationship: disease_has_feature MONDO:0004907 {source="MESH:C535646"} ! alopecia
relationship: disease_has_feature MONDO:0006608 {source="MESH:C535646"} ! seborrheic dermatitis
relationship: disease_has_feature MONDO:0007885 {source="MESH:C535646"} ! Legg-Calve-Perthes disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2435/garret-tripp-syndrome" xsd:anyURI {source="GARD:0002435"}

[Term]
id: MONDO:0023214
name: gas bloat syndrome
synonym: "post-fundoplication syndrome" RELATED [GARD:0006484, MESH:C535647]
xref: MEDGEN:419298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535647 {source="MONDO:equivalentTo"}
xref: UMLS:C2930966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419298"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6484/gas-bloat-syndrome" xsd:anyURI {source="GARD:0006484"}

[Term]
id: MONDO:0023217
name: obsolete gastro-enteropancreatic neuroendocrine tumor
is_obsolete: true
replaced_by: MONDO:0015078

[Term]
id: MONDO:0023221
name: Gaucher ichthyosis restrictive dermopathy
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2444/gaucher-ichthyosis-restrictive-dermopathy" xsd:anyURI {source="GARD:0002444"}

[Term]
id: MONDO:0023224
name: inherited reflex epilepsy
def: "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "hereditary reflex epilepsy" EXACT [MONDO:patterns/hereditary]
intersection_of: MONDO:0017768 ! reflex epilepsy
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0023226
name: gershinibaruch Leibo syndrome
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2464/gershinibaruch-leibo-syndrome" xsd:anyURI {source="GARD:0002464"}

[Term]
id: MONDO:0023227
name: gestational diabetes insipidus
def: "A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low." [PMID:20500966]
synonym: "diabetes insipidus gestational" RELATED [GARD:0010702]
synonym: "Gestagenic diabetes insipidus" RELATED [GARD:0010702]
xref: DOID:0081057 {source="MONDO:equivalentTo"}
xref: MEDGEN:444359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548014 {source="MONDO:equivalentTo"}
xref: UMLS:C2932666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444359"}
is_a: MONDO:0004782 {source="MESH:C548014"} ! diabetes insipidus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus" xsd:anyURI {source="GARD:0010702"}

[Term]
id: MONDO:0023230
name: Ghose-Sachdev-Kumar syndrome
synonym: "bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma" RELATED [GARD:0002467]
xref: MEDGEN:425476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537803 {source="MONDO:equivalentTo"}
xref: UMLS:C2974016 {source="MEDGEN:425476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0005041 {source="MESH:C537803"} ! glaucoma
relationship: disease_has_feature MONDO:0019118 {source="MESH:C537803"} ! inherited retinal dystrophy
relationship: disease_has_feature MONDO:0021129 {source="MESH:C537803"} ! microphthalmia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2467/ghose-sachdev-kumar-syndrome" xsd:anyURI {source="GARD:0002467"}

[Term]
id: MONDO:0023232
name: giant cell myocarditis
def: "An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available." [NCIT:C97055]
comment: Giant cell myocarditis cases can be idiopathic or occur in various conditions, such as infection (tuberculosis, syphilis, pneumocystis jirovecii parvovirus, coxsackie), inflammation, drug sensitivity, hypersensitivity and vasculitis. At least one group of the condition is considered as an autoimmune disease in 19% of patients in some registries that co-manifest with other autoimmune diseases such as inflammatory bowel disease, cryofibrinogenemia, optic neuritis, Hashimoto thyroiditis, rheumatoid arthritis, Takayasu arteritis, temporal arteritis, myasthenia gravis (MG), alopecia totalis, vitiligo, orbital myositis, autoimmune hepatitis, Guillain-Barré syndrome, systemic lupus erythematosus, Sjögren’s and pernicious anemia. (PMID:33458585)
subset: gard_rare {source="GARD:6502", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1183", source="MONDO:NORD"}
subset: rare
synonym: "GCM" RELATED ABBREVIATION [GARD:0006502]
synonym: "giant cell myocarditis" EXACT [NCIT:C97055]
synonym: "idiopathic giant-cell myocarditis" RELATED [GARD:0006502]
xref: GARD:6502 {source="MONDO:GARD"}
xref: NCIT:C97055 {source="MONDO:equivalentTo"}
xref: NORD:1183 {source="MONDO:NORD"}
xref: SCTID:60812006 {source="MONDO:equivalentTo"}
is_a: MONDO:0002815 {source="NCIT:C97055"} ! acute myocarditis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7170" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis" xsd:anyURI {source="GARD:0006502"}

[Term]
id: MONDO:0023235
name: obsolete giant congenital nevus
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4659" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044792

[Term]
id: MONDO:0023238
name: giant mammary hamartoma
synonym: "giant hamartoma of the breast" RELATED [GARD:0000208, MESH:C536818]
xref: MEDGEN:419055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536818 {source="MONDO:equivalentTo"}
xref: UMLS:C2931343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419055"}
is_a: MONDO:0006499 {source="MESH:C536818"} ! hamartoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/208/giant-mammary-hamartoma" xsd:anyURI {source="GARD:0000208"}

[Term]
id: MONDO:0023240
name: gigantism advanced bone age hoarse cry
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2471/gigantism-advanced-bone-age-hoarse-cry" xsd:anyURI {source="GARD:0002471"}

[Term]
id: MONDO:0023243
name: glass-chapman-hockley syndrome
def: "The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder." [GARD:0002479]
subset: inferred_rare
subset: n_of_one
subset: rare
synonym: "craniosynostosis - dysmorphism - brachydactyly" RELATED [GARD:0002479]
synonym: "craniosynostosis brachydactyly" RELATED [GARD:0002479]
synonym: "craniosynostosis with facial dysmorphism and brachydactyly syndrome" EXACT []
synonym: "craniosynostosis-dysmorphism-brachydactyly syndrome" RELATED [GARD:0002479]
synonym: "glass chapman hockley syndrome" RELATED []
xref: Orphanet:1535 {source="GARD:0002479", source="MONDO:equivalentObsolete"}
xref: SCTID:720814001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000426 ! autosomal dominant disease
is_a: MONDO:0015469 {source="Orphanet:1535/inferred"} ! craniosynostosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2479/glass-chapman-hockley-syndrome" xsd:anyURI {source="GARD:0002479"}

[Term]
id: MONDO:0023246
name: linear porokeratosis
def: "Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults." [GARD:0009515]
subset: gard_rare {source="GARD:9515", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Congenital facial linear porokeratosis (type)" RELATED [GARD:0009515]
synonym: "Linear Porokeratosis" RELATED [MESH:D017499]
synonym: "Linear porokeratosis" RELATED [UMLS:C0302319]
synonym: "Porokeratosis, Linear" RELATED [MESH:D017499]
synonym: "Zosteriform porokeratosis" RELATED [UMLS:C0302319]
xref: GARD:9515 {source="MONDO:GARD"}
xref: MEDGEN:81293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017499 {source="UMLS:C0302319"}
xref: SCTID:238631008 {source="MONDO:equivalentTo", source="UMLS:C0302319"}
xref: UMLS:C0302319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:81293"}
is_a: MONDO:0006602 {source="https://orcid.org/0000-0001-5208-3432"} ! porokeratosis
relationship: has_characteristic MONDO:0021136 {source="GARD:0009515"} ! rare

[Term]
id: MONDO:0023249
name: polyarticular juvenile rheumatoid arthritis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Juvenile polyarthritis rheumatoid factor negative" RELATED [GARD:0010967]
synonym: "Juvenile polyarthritis rheumatoid factor positive" RELATED [GARD:0010967]
synonym: "Polyarticular juvenile rheumatoid arthritis" RELATED [GARD:0010967, UMLS:C0311221]
xref: MEDGEN:551885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:445479007 {source="UMLS:C0311221", source="MONDO:equivalentTo"}
xref: UMLS:C0311221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:551885"}
is_a: MONDO:0008383 {source="https://orcid.org/0000-0001-5208-3432"} ! rheumatoid arthritis
relationship: has_characteristic MONDO:0021136 {source="GARD:0010967"} ! rare

[Term]
id: MONDO:0023250
name: global disaccharide intolerance
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:8386", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:8386 {source="MONDO:GARD"}
is_a: MONDO:0009114 {source="https://orcid.org/0000-0002-6601-2165"} ! congenital sucrase-isomaltase deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8386/global-disaccharide-intolerance" xsd:anyURI {source="GARD:0008386"}

[Term]
id: MONDO:0023255
name: glossopalatine ankylosis micrognathia ear anomalies
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2495/glossopalatine-ankylosis-micrognathia-ear-anomalies" xsd:anyURI {source="GARD:0002495"}

[Term]
id: MONDO:0023258
name: glycogen storage disease type 1 due to SLC37A4 mutation
def: "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." [MONDO:patterns/disease_series_by_gene]
comment: This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
subset: gard_rare {source="GARD:2501", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "G6P translocase deficiency" BROAD [GARD:0002501]
synonym: "glucose-6-phosphate translocase deficiency" EXACT [GARD:0002501]
synonym: "glycogen storage disease I caused by mutation in SLC37A4" EXACT [MONDO:design_pattern]
synonym: "SLC37A4 glycogen storage disease I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:2501 {source="MONDO:GARD"}
xref: HGNC:4061 {source="GARD:0002501"}
xref: MEDGEN:419390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536831 {source="MONDO:equivalentTo"}
xref: NANDO:1200841 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C2931345 {source="MEDGEN:419390", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002413 {source="MESH:C536831", source="MONDO:Entailed", source="MONDO:Redundant"} ! glycogen storage disease I
intersection_of: MONDO:0002413 ! glycogen storage disease I
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4061 ! SLC37A4
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency" xsd:anyURI {source="GARD:0002501"}

[Term]
id: MONDO:0023263
name: glyceraldehyde-3-phosphate dehydrogenase deficiency
synonym: "GAPDH deficiency" RELATED [GARD:0002510]
xref: HGNC:4141 {source="GARD:0002510"}
xref: MEDGEN:224854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536837 {source="MONDO:equivalentTo"}
xref: UMLS:C1291264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224854"}
is_a: MONDO:0002908 {source="MESH:C536837"} ! glucose metabolism disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2510/glyceraldehyde-3-phosphate-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0002510"}

[Term]
id: MONDO:0023267
name: goldstein hutt syndrome
synonym: "long eyelashes, cataract, and hereditary spherocytosis" RELATED [MESH:C537282]
synonym: "trichomegaly, cataract, and hereditary spherocytosis" RELATED [MESH:C537282]
xref: MEDGEN:419084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537282 {source="MONDO:equivalentTo"}
xref: UMLS:C2931465 {source="MEDGEN:419084", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_has_feature MONDO:0005129 {source="MESH:C537282"} ! cataract
relationship: disease_has_feature MONDO:0019350 {source="MESH:C537282"} ! hereditary spherocytosis

[Term]
id: MONDO:0023272
name: goniodysgenesis intellectual disability short stature
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature" xsd:anyURI {source="GARD:0002545"}

[Term]
id: MONDO:0023273
name: pigmented dermatofibrosarcoma protuberans
def: "A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells." [NCIT:C9430]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bednar Tumor" RELATED [MESH:D018223, NCIT:C9430]
synonym: "bednar tumor" EXACT [NCIT:C9430]
synonym: "Bednar Tumour" RELATED OMO:0003005 []
synonym: "bednar tumour" EXACT OMO:0003005 []
synonym: "Bednar's Tumor" RELATED [MESH:D018223]
synonym: "Bednar's Tumour" RELATED OMO:0003005 []
synonym: "Bednars Tumor" RELATED [MESH:D018223]
synonym: "Bednars Tumour" RELATED OMO:0003005 []
synonym: "Dermatofibrosarcoma Protuberan, Pigmented" RELATED [MESH:D018223]
synonym: "Dermatofibrosarcoma Protuberans, Pigmented" RELATED [MESH:D018223]
synonym: "DFSP, Pigmented" RELATED [MESH:D018223]
synonym: "DFSPs, Pigmented" RELATED [MESH:D018223]
synonym: "Pigmented dermatofibrosarcoma" RELATED [UMLS:C0334464]
synonym: "Pigmented Dermatofibrosarcoma Protuberan" RELATED [MESH:D018223]
synonym: "Pigmented Dermatofibrosarcoma Protuberans" RELATED [MESH:D018223, NCIT:C9430]
synonym: "Pigmented dermatofibrosarcoma protuberans" RELATED [GARD:0009624, UMLS:C0334464]
synonym: "pigmented dermatofibrosarcoma protuberans" EXACT [NCIT:C9430]
synonym: "Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)" RELATED [NCIT:C9430]
synonym: "pigmented dermatofibrosarcoma protuberans (bednar tumor)" EXACT [NCIT:C9430]
synonym: "Pigmented dermatofibrosarcoma protuberans of skin" RELATED [UMLS:C0334464]
synonym: "Pigmented DFSP" RELATED [MESH:D018223]
synonym: "Pigmented DFSPs" RELATED [MESH:D018223]
synonym: "Pigmented storiform neurofibroma" RELATED [UMLS:C0334464]
synonym: "Protuberan, Pigmented Dermatofibrosarcoma" RELATED [MESH:D018223]
synonym: "Protuberans, Pigmented Dermatofibrosarcoma" RELATED [MESH:D018223]
synonym: "Tumor, Bednar" RELATED [MESH:D018223]
synonym: "Tumor, Bednar's" RELATED [MESH:D018223]
xref: MEDGEN:90786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018223 {source="UMLS:C0334464"}
xref: NCIT:C9430 {source="UMLS:C0334464", source="MONDO:equivalentTo"}
xref: SCTID:398670003 {source="UMLS:C0334464", source="MONDO:equivalentTo"}
xref: SCTID:62621002 {source="UMLS:C0334464"}
xref: UMLS:C0334464 {source="MEDGEN:90786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011934 {source="NCIT:C9430", source="UMLS:C0334464"} ! dermatofibrosarcoma protuberans
relationship: has_characteristic MONDO:0021136 {source="GARD:0009624"} ! rare

[Term]
id: MONDO:0023275
name: Graham-Boyle-Troxell syndrome
def: "Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987." [Orphanet:2111]
subset: gard_rare {source="GARD:2557", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2111"}
subset: orphanet_rare {source="Orphanet:2111"}
subset: rare
synonym: "cystic hamartoma of lung and kidney" EXACT [GARD:0002557]
synonym: "cystic hamartomata of lung and kidney" RELATED [MESH:C537292]
synonym: "graham Boyle Troxell syndrome" EXACT []
synonym: "Graham-Boyle-Troxell syndrome" EXACT [Orphanet:2111]
xref: GARD:2557 {source="MONDO:GARD"}
xref: ICD10CM:Q85.8 {source="Orphanet:2111"}
xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:444062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537292 {source="MONDO:equivalentTo"}
xref: Orphanet:2111 {source="MONDO:equivalentTo", source="GARD:0002557"}
xref: SCTID:707530009 {source="MONDO:equivalentTo"}
xref: UMLS:C2931468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444062"}
is_a: MONDO:0002367 {source="MESH:C537292"} ! kidney cancer
is_a: MONDO:0021163 {source="MONDO:Redundant", source="Orphanet:2111"} ! kidney neoplasm
is_a: MONDO:0021540 ! hamartoma of lung
relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome" xsd:anyURI {source="GARD:0002557"}

[Term]
id: MONDO:0023282
name: granulomatous hypophysitis
def: "Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma." [doi:10.1002/ccr3.1007]
synonym: "idiopathic granulomatous hypophysitis" RELATED [GARD:0006547]
xref: MEDGEN:878912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4046048 {source="MONDO:equivalentTo", source="MEDGEN:878912", source="MONDO:MEDGEN"}
is_a: MONDO:0021156 {source="doi:10.1002/ccr3.1007"} ! hypophysitis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis" xsd:anyURI {source="GARD:0006547"}

[Term]
id: MONDO:0023283
name: ovarian granulosa cell tumor
def: "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." [NCIT:C6261]
synonym: "adult granulosa cell tumor of the ovary" RELATED [MESH:C537296]
synonym: "adult granulosa cell tumour of the ovary" RELATED OMO:0003005 []
synonym: "GCT of the ovary" RELATED [MESH:C537296]
synonym: "granulosa cell neoplasm of ovary" EXACT [NCIT:C6261]
synonym: "granulosa cell neoplasm of the ovary" EXACT [NCIT:C6261]
synonym: "granulosa cell tumor of ovary" EXACT [NCIT:C6261]
synonym: "granulosa cell tumor of the ovary" EXACT [NCIT:C6261]
synonym: "granulosa cell tumour of ovary" EXACT OMO:0003005 []
synonym: "granulosa cell tumour of the ovary" EXACT OMO:0003005 []
synonym: "granulosa theca cell tumor" RELATED [MESH:C537296]
synonym: "granulosa theca cell tumor of the ovary" RELATED [MESH:C537296]
synonym: "granulosa theca cell tumour" RELATED OMO:0003005 []
synonym: "granulosa theca cell tumour of the ovary" RELATED OMO:0003005 []
synonym: "ovarian granulosa cell neoplasm" EXACT [NCIT:C6261]
synonym: "ovarian granulosa cell tumor" EXACT [NCIT:C6261]
synonym: "ovary granulosa cell tumor" EXACT [MONDO:patterns/location]
synonym: "ovary granulosa cell tumour" EXACT OMO:0003005 []
xref: MEDGEN:277970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537296 {source="MONDO:equivalentTo"}
xref: NCIT:C6261 {source="MONDO:equivalentTo"}
xref: SCTID:254863004 {source="MONDO:equivalentTo"}
xref: UMLS:C1370419 {source="MEDGEN:277970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006036 {source="MESH:C537296", source="MONDO:Redundant", source="NCIT:C6261"} ! granulosa cell tumor
is_a: MONDO:0021657 {source="MONDO:Redundant", source="NCIT:C6261/inferred"} ! ovarian sex cord-stromal tumor
intersection_of: MONDO:0006036 ! granulosa cell tumor
intersection_of: disease_has_location UBERON:0000992 ! ovary
relationship: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0023286
name: graphite pneumoconiosis
subset: gard_rare {source="GARD:8359", source="MONDO:GARD"}
subset: rare
synonym: "carbon pneumoconiosis" RELATED [GARD:0008359]
synonym: "graphite fibrosis" RELATED []
synonym: "graphite fibrosis of lung" EXACT []
synonym: "graphite lung disease" RELATED []
synonym: "graphite pneumoconiosis" EXACT []
synonym: "graphitosis" RELATED []
xref: GARD:8359 {source="MONDO:GARD"}
xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:120502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:17385007 {source="MONDO:equivalentTo"}
xref: UMLS:C0264439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120502"}
is_a: MONDO:0002771 ! pulmonary fibrosis
is_a: MONDO:0015926 {source="https://orcid.org/0000-0001-5208-3432"} ! pneumoconiosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis" xsd:anyURI {source="GARD:0008359"}

[Term]
id: MONDO:0023288
name: green sandford davison syndrome
synonym: "anal anomalies, renal tract abnormalities, genital malformations, and syndactyly" RELATED [GARD:0002447]
synonym: "renal and anogenital malformations with syndactyly" RELATED [GARD:0002447]
xref: MEDGEN:419160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538221 {source="MONDO:equivalentTo"}
xref: OMIM:601446 {source="MONDO:equivalentObsolete", source="GARD:0002447"}
xref: UMLS:C2931777 {source="MEDGEN:419160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2447/green-sandford-davison-syndrome" xsd:anyURI {source="GARD:0002447"}

[Term]
id: MONDO:0023290
name: grix Blankenship Peterson syndrome
synonym: "craniofacial and osseous defects intellectual disability" RELATED [GARD:0002567]
synonym: "craniofacial and osseous defects mental retardation" RELATED DEPRECATED [GARD:0002567]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2567/grix-blankenship-peterson-syndrome" xsd:anyURI {source="GARD:0002567"}

[Term]
id: MONDO:0023297
name: guttate psoriasis
def: "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." [GARD:0010569]
subset: otar {source="MONDO:OTAR"}
synonym: "guttate psoriasis" EXACT []
synonym: "psoriasis guttata" RELATED []
synonym: "psoriasis guttate" RELATED [GARD:0010569]
xref: ICD10CM:L40.4 {source="MONDO:equivalentTo"}
xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:91004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:37042000 {source="MONDO:equivalentTo"}
xref: UMLS:C0343052 {source="MEDGEN:91004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005083 {source="ICD10CM:L40.4"} ! psoriasis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis" xsd:anyURI {source="GARD:0010569"}

[Term]
id: MONDO:0023303
name: obsolete Hamanishi-Ueba-Tsuji syndrome
is_obsolete: true
replaced_by: MONDO:0008809

[Term]
id: MONDO:0023305
name: heavy metal poisoning
def: "Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure." [GARD:0006577]
subset: gard_rare {source="GARD:6577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1219"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chronic heavy metal poisoning" RELATED [GARD:0006577, MESH:C535854]
synonym: "heavy metal poisoning" EXACT [MESH:C535854]
synonym: "heavy metal toxicity" RELATED [GARD:0006577]
synonym: "heavy metal toxicosis" RELATED []
synonym: "toxic effect of heavy metal" EXACT []
xref: EFO:1001518 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6577 {source="MONDO:GARD"}
xref: ICD9:985.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D000075322 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NORD:1219 {source="MONDO:NORD"}
xref: SCTID:85866007 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0002-6601-2165"} ! poisoning
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015224"} ! rare
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning" xsd:anyURI {source="GARD:0006577"}

[Term]
id: MONDO:0023310
name: obsolete hemiplegic migraine
is_obsolete: true
replaced_by: MONDO:0018925

[Term]
id: MONDO:0023368
name: Ho-Kaufman-McAlister syndrome
def: "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" [GARD:0001266]
synonym: "cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" RELATED [GARD:0001266]
synonym: "Ho Kaufman McAlister syndrome" RELATED [GARD:0001266]
xref: MEDGEN:419170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538325 {source="MONDO:equivalentTo"}
xref: UMLS:C2931819 {source="MEDGEN:419170", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1266/ho-kaufman-mcalister-syndrome" xsd:anyURI {source="GARD:0001266"}

[Term]
id: MONDO:0023369
name: disorder of facial skeleton
def: "A disease that involves the facial skeleton." [MONDO:patterns/location]
synonym: "disease of facial skeleton" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of facial skeleton" EXACT []
synonym: "disorder of facial skeleton" EXACT [MONDO:patterns/location_top]
synonym: "facial skeleton disease" EXACT [MONDO:patterns/location]
synonym: "facial skeleton disease or disorder" EXACT [MONDO:patterns/location]
synonym: "maxillo-facial disease" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "maxillofacial anomaly" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: MEDGEN:712533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1290148 {source="MEDGEN:712533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0011156 ! facial skeleton

[Term]
id: MONDO:0023370
name: neoplastic disease or syndrome
def: "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." [https://orcid.org/0000-0002-6601-2165]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplastic disease" RELATED []
synonym: "neoplastic disorder" RELATED []
is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor
union_of: MONDO:0005070 ! neoplasm
union_of: MONDO:0021058 ! neoplastic syndrome

[Term]
id: MONDO:0023388
name: pityriasis rotunda
def: "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda." [GARD:0010904]
subset: gard_rare {source="GARD:10904", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Pityriasis rotunda" RELATED [UMLS:C0343060]
xref: GARD:10904 {source="MONDO:GARD"}
xref: MEDGEN:575364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238639005 {source="MONDO:equivalentTo", source="UMLS:C0343060"}
xref: UMLS:C0343060 {source="MEDGEN:575364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 ! skin disorder
relationship: has_characteristic MONDO:0021136 {source="GARD:0010904"} ! rare

[Term]
id: MONDO:0023415
name: congenital candidiasis
def: "A fungal infection by any of the Candida species that is present at birth." [NCIT:C116811]
synonym: "Congenital Candidiasis" RELATED [NCIT:C116811]
synonym: "Congenital candidiasis" RELATED [UMLS:C0343875]
synonym: "congenital candidiasis" EXACT [NCIT:C116811]
synonym: "Congenital candidosis" RELATED [UMLS:C0343875]
xref: MEDGEN:575892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116811 {source="MONDO:equivalentTo", source="UMLS:C0343875"}
xref: SCTID:276672007 {source="MONDO:equivalentTo", source="UMLS:C0343875"}
xref: UMLS:C0343875 {source="MEDGEN:575892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002026 {source="NCIT:C116811", source="UMLS:C0343875"} ! candidiasis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0023419
name: hyperprolinemia
def: "Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern." [GARD:0002847]
subset: gard_rare {source="GARD:2847", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperprolinemia type 1" RELATED [GARD:0002847]
synonym: "proline hydrogenase deficiency" RELATED [GARD:0002847]
synonym: "proline oxidase deficiency" RELATED [GARD:0002847]
xref: DOID:0080541 {source="MONDO:equivalentTo"}
xref: GARD:2847 {source="MONDO:GARD"}
xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:75690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200471 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:419 {source="GARD:0002847"}
xref: SCTID:59655002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75690"}
is_a: MONDO:0017355 {source="https://orcid.org/0000-0002-6601-2165"} ! inborn disorder of proline metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia" xsd:anyURI {source="GARD:0002847"}

[Term]
id: MONDO:0023472
name: chondrodysplasia situs inversus imperforate anus polydactyly
synonym: "impossible syndrome" RELATED [GARD:0001299]
xref: Orphanet:1424 {source="GARD:0001299"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0022723 {source="https://orcid.org/0000-0001-5208-3432"} ! chondrodysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1299/chondrodysplasia-situs-inversus-imperforate-anus-polydactyly" xsd:anyURI {source="GARD:0001299"}

[Term]
id: MONDO:0023483
name: infectious myositis
def: "An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain." [NCIT:C26984]
subset: gard_rare {source="GARD:9131", source="MONDO:GARD"}
subset: rare
synonym: "infectious myositis" EXACT [NCIT:C26984]
synonym: "infective myositis" EXACT [NCIT:C26984]
xref: GARD:9131 {source="MONDO:GARD"}
xref: ICD9:728.0 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26984 {source="MONDO:equivalentTo"}
xref: SCTID:29689003 {source="MONDO:equivalentTo"}
xref: UMLS:C0158353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102358"}
is_a: MONDO:0005550 {source="https://orcid.org/0000-0002-6601-2165"} ! infectious disease
is_a: MONDO:0021167 {source="NCIT:C26984"} ! myositis disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9131/infective-myositis" xsd:anyURI {source="GARD:0009131"}

[Term]
id: MONDO:0023510
name: Jaffer-Beighton syndrome
synonym: "arachnodactyly, joint laxity, and spondylolisthesis" RELATED [GARD:0003040, MESH:C537561]
synonym: "Jaffer Beighton syndrome" RELATED [GARD:0003040]
xref: MEDGEN:444079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537561 {source="MONDO:equivalentTo"}
xref: UMLS:C2931533 {source="MEDGEN:444079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0008475 {source="MESH:C537561"} ! spondylolisthesis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3040/jaffer-beighton-syndrome" xsd:anyURI {source="GARD:0003040"}

[Term]
id: MONDO:0023513
name: Jeune syndrome situs inversus
comment: Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105
subset: gard_rare {source="GARD:303", source="MONDO:GARD"}
subset: n_of_one
subset: rare
xref: GARD:303 {source="MONDO:GARD"}
xref: MEDGEN:419100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537572 {source="MONDO:equivalentTo"}
xref: UMLS:C2931535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419100"}
is_a: MONDO:0009162 {source="MESH:C537572"} ! Ellis-van Creveld syndrome
is_a: MONDO:0018770 {source="MONDO:Redundant", source="MONDO:indirect"} ! Jeune syndrome
relationship: disease_has_feature MONDO:0010029 {source="MESH:C537572"} ! situs inversus
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus" xsd:anyURI {source="GARD:0000303"}

[Term]
id: MONDO:0023521
name: Judge Misch wright syndrome
subset: gard_rare {source="GARD:3061", source="MONDO:GARD"}
subset: rare
synonym: "dry skin, photophobia hyperkeratosis, abnormal fingernails" RELATED [GARD:0003061, MESH:C537692]
synonym: "keratodermia palmoplantar periorificial" RELATED [GARD:0003061, MESH:C537692]
synonym: "palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia" RELATED [GARD:0003061, MESH:C537692]
xref: GARD:3061 {source="MONDO:GARD"}
xref: MEDGEN:419840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537692 {source="MONDO:equivalentTo"}
xref: UMLS:C2931590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419840"}
is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease
is_a: MONDO:0002884 {source="MESH:C537692"} ! nail disorder
is_a: MONDO:0006548 {source="MESH:C537692"} ! facial dermatosis
is_a: MONDO:0018102 {source="MESH:C537692", source="MONDO:Redundant"} ! corneal dystrophy
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome" xsd:anyURI {source="GARD:0003061"}

[Term]
id: MONDO:0023528
name: KSHV inflammatory cytokine syndrome
def: "A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma." [NCIT:C125711]
synonym: "Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome" EXACT [NCIT:C125711]
synonym: "KICS" EXACT ABBREVIATION [GARD:0010827, NCIT:C125711]
synonym: "KSHV inflammatory cytokine syndrome" EXACT [NCIT:C125711]
xref: MEDGEN:901443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C125711 {source="MONDO:equivalentTo"}
xref: UMLS:C4086533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901443"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125711"} ! syndromic disease
relationship: disease_arises_from_feature MONDO:0005550 ! infectious disease
relationship: disease_has_feature MONDO:0005055 ! Kaposi's sarcoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome" xsd:anyURI {source="GARD:0010827"}

[Term]
id: MONDO:0023530
name: kallikrein hypertension
synonym: "kallikrein attenuated hypertension" RELATED [GARD:0006811, MESH:C537707]
xref: HGNC:6357 {source="GARD:0006811", source="MONDO:otherHierarchy"}
xref: MEDGEN:257936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537707 {source="MONDO:equivalentTo"}
xref: UMLS:C1171349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:257936"}
is_a: MONDO:0005044 {source="MESH:C537707"} ! hypertensive disorder
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension" xsd:anyURI {source="GARD:0006811"}

[Term]
id: MONDO:0023538
name: Kaplowitz-Bodurtha syndrome
synonym: "congenital hypopituitarism and microphthalmia" RELATED [MESH:C536893]
synonym: "hypopituitarism microphthalmia" RELATED [MESH:C536893]
xref: MEDGEN:444037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536893 {source="MONDO:equivalentTo"}
xref: UMLS:C2931361 {source="MEDGEN:444037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005152 {source="MESH:C536893"} ! hypopituitarism
is_a: MONDO:0021129 {source="MESH:C536893"} ! microphthalmia

[Term]
id: MONDO:0023539
name: obsolete MONDO:0023539
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0023540

[Term]
id: MONDO:0023540
name: Kashani-Strom-Utley syndrome
synonym: "hypoplastic pulmonary arteries and aorta with obstructive uropathy" RELATED [GARD:0000191, MESH:C537010]
synonym: "Kashani Strom Utley syndrome" RELATED [GARD:0000191]
synonym: "pulmonary aortic stenosis obstructive uropathy" RELATED [GARD:0000191, MESH:C537010]
xref: MEDGEN:419069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537010 {source="MONDO:equivalentTo"}
xref: Orphanet:1137 {source="MONDO:equivalentObsolete"}
xref: UMLS:C2931392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419069"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_feature MONDO:0001556 {source="MESH:C537010"} ! urethral obstruction
relationship: disease_has_feature MONDO:0005275 {source="MESH:C537010"} ! lung disorder

[Term]
id: MONDO:0023541
name: Kasznica-Carlson-Coppedge syndrome
synonym: "ectrodactyly spina bifida cardiopathy" RELATED [GARD:0003080, MESH:C537011]
synonym: "ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery" RELATED [GARD:0003080]
synonym: "Kasznica Carlson Coppedge syndrome" RELATED [GARD:0003080]
xref: MEDGEN:444045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537011 {source="MONDO:equivalentTo"}
xref: Orphanet:1894 {source="GARD:0003080"}
xref: UMLS:C2931393 {source="MEDGEN:444045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_feature HP:0000278 ! Retrognathia
relationship: disease_has_feature HP:0001627 ! Abnormal heart morphology
relationship: disease_has_feature HP:0002475 ! Myelomeningocele
relationship: disease_has_feature MONDO:0017069 ! spina bifida cystica
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3080/kasznica-carlson-coppedge-syndrome" xsd:anyURI {source="GARD:0003080"}

[Term]
id: MONDO:0023543
name: Katsantoni-Papadakou-Lagoyanni syndrome
synonym: "Katsantoni Papadakou Lagoyanni syndrome" RELATED [GARD:0003081]
synonym: "Trichodermal syndrome and intellectual disability" RELATED [GARD:0003081, MESH:C537012]
synonym: "Trichodermal syndrome and mental retardation" RELATED DEPRECATED [GARD:0003081, MESH:C537012]
xref: MEDGEN:419400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537012 {source="MONDO:equivalentTo"}
xref: UMLS:C2931394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419400"}
is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease
is_a: MONDO:0002917 {source="MESH:C537012"} ! disorder of pilosebaceous unit
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537012", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3081/katsantoni-papadakou-lagoyanni-syndrome" xsd:anyURI {source="GARD:0003081"}

[Term]
id: MONDO:0023551
name: C1q nephropathy
def: "C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome." [GARD:0012136]
subset: gard_rare {source="GARD:12136", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "C1q nephropathy" EXACT [UMLS:C0403434]
xref: GARD:12136 {source="MONDO:GARD"}
xref: MEDGEN:588388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:236412002 {source="UMLS:C0403434", source="MONDO:equivalentTo"}
xref: UMLS:C0403434 {source="MEDGEN:588388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 ! kidney disorder
relationship: has_characteristic MONDO:0021136 {source="GARD:0012136"} ! rare

[Term]
id: MONDO:0023554
name: acquired testicular failure
def: "Testicular failure, the cause of which is not present at birth." [NCIT:C131091]
synonym: "acquired testicular failure" EXACT [NCIT:C131091, UMLS:C0403818]
xref: MEDGEN:588672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131091 {source="MONDO:equivalentTo", source="UMLS:C0403818"}
xref: SCTID:236811002 {source="MONDO:equivalentTo", source="UMLS:C0403818"}
xref: UMLS:C0403818 {source="MEDGEN:588672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002329 {source="https://orcid.org/0000-0001-5208-3432"} ! testicular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_major_feature HP:0008669 ! Abnormal spermatogenesis
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0023557
name: infective vaginitis
def: "An infectious process affecting the vagina. Symptoms include pain and purulent discharge." [NCIT:C84353]
subset: otar {source="MONDO:OTAR"}
synonym: "Infective vaginitis" RELATED [UMLS:C0404521]
synonym: "PV - Vaginal infection" RELATED [UMLS:C0404521]
synonym: "Vaginal Infection" RELATED [NCIT:C84353]
synonym: "Vaginal infection" RELATED [UMLS:C0404521]
synonym: "vaginal infection" EXACT [NCIT:C84353]
xref: MEDGEN:140795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84353 {source="UMLS:C0404521", source="MONDO:equivalentTo"}
xref: SCTID:237091009 {source="UMLS:C0404521", source="MONDO:equivalentTo"}
xref: UMLS:C0404521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140795"}
is_a: MONDO:0002234 {source="NCIT:C84353", source="UMLS:C0404521"} ! vaginitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina

[Term]
id: MONDO:0023558
name: Kocher-debre-Semelaigne syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "association of muscular pseudohypertrophy and hypothyroidism in children" RELATED [GARD:0008270]
synonym: "Kocher debre Semelaigne disease" RELATED [GARD:0008270, MESH:C537211]
xref: MESH:C537211 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease
is_a: MONDO:0003939 {source="MESH:C537211"} ! muscle tissue disorder
is_a: MONDO:0018612 {source="MESH:C537211", source="MONDO:Redundant"} ! congenital hypothyroidism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome" xsd:anyURI {source="GARD:0008270"}

[Term]
id: MONDO:0023561
name: Koone-Rizzo-Elias syndrome
synonym: "ichthyosis, intellectual disability and asymptomatic spasticity" RELATED [GARD:0003131, MESH:C537023]
synonym: "ichthyosis, mental retardation and asymptomatic spasticity" RELATED DEPRECATED [GARD:0003131, MESH:C537023]
synonym: "Koone Rizzo Elias syndrome" RELATED [GARD:0003131]
xref: MEDGEN:419791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537023 {source="MONDO:equivalentTo"}
xref: UMLS:C2931397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419791"}
is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537023", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
relationship: excluded_subClassOf MONDO:0019269 {source="MESH:C537023", source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3131/koone-rizzo-elias-syndrome" xsd:anyURI {source="GARD:0003131"}

[Term]
id: MONDO:0023563
name: Kotzot-Richter syndrome
subset: gard_rare {source="GARD:3134", source="MONDO:GARD"}
subset: rare
synonym: "albinism with immune and hematologic defects" RELATED [GARD:0003134, MESH:C537025]
synonym: "oculocutaneous albinism, immunodeficiency, haematological disorders, and minor anomalies" RELATED OMO:0003005 []
synonym: "oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies" RELATED [GARD:0003134, MESH:C537025]
xref: GARD:3134 {source="MONDO:GARD"}
xref: MEDGEN:419793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537025 {source="MONDO:equivalentTo"}
xref: OMIM:203285 {source="GARD:0003134", source="MONDO:equivalentObsolete"}
xref: UMLS:C2931399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419793"}
is_a: MONDO:0019312 {source="MESH:C537025"} ! Hermansky-Pudlak syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome" xsd:anyURI {source="GARD:0003134"}

[Term]
id: MONDO:0023567
name: Kozlowski Brown Hardwick syndrome
synonym: "unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus" RELATED [GARD:0003136]
xref: MEDGEN:419822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537506 {source="MONDO:equivalentTo"}
xref: UMLS:C2931511 {source="MEDGEN:419822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3136/kozlowski-brown-hardwick-syndrome" xsd:anyURI {source="GARD:0003136"}

[Term]
id: MONDO:0023569
name: Kozlowski Ouvrier syndrome
synonym: "agenesis of the corpus callosum with intellectual disability and osseous lesions" RELATED [GARD:0003139, MESH:C537508]
synonym: "agenesis of the corpus callosum with mental retardation and osseous lesions" RELATED DEPRECATED [GARD:0003139, MESH:C537508]
xref: MEDGEN:444073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537508 {source="MONDO:equivalentTo"}
xref: UMLS:C2931512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444073"}
is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease
is_a: MONDO:0009022 {source="MESH:C537508"} ! corpus callosum, agenesis of
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537508", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3139/kozlowski-ouvrier-syndrome" xsd:anyURI {source="GARD:0003139"}

[Term]
id: MONDO:0023571
name: Kozlowski Rafinski Klicharska syndrome
synonym: "metaphyseal and epiphyseal dysplasia with unusual facies and cataract" RELATED [GARD:0003140, MESH:C537509]
xref: MEDGEN:419432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537509 {source="MONDO:equivalentTo"}
xref: UMLS:C2931513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419432"}
is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease
is_a: MONDO:0005129 {source="MESH:C537509", source="MONDO:Redundant"} ! cataract
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537509", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome" xsd:anyURI {source="GARD:0003140"}

[Term]
id: MONDO:0023573
name: Kozlowski Warren Fisher syndrome
subset: gard_rare {source="GARD:353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cloverleaf skull generalised bone dysplasia" RELATED OMO:0003005 []
synonym: "cloverleaf skull generalized bone dysplasia" RELATED [GARD:0000353, MESH:C537614]
xref: GARD:353 {source="MONDO:GARD"}
xref: MEDGEN:419831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537614 {source="MONDO:equivalentTo"}
xref: UMLS:C2931546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419831"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0017042 {source="MESH:C537614"} ! thanatophoric dysplasia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome" xsd:anyURI {source="GARD:0000353"}

[Term]
id: MONDO:0023575
name: Krauss Herman Holmes syndrome
synonym: "telecanthus, hypertelorism, strabismus, and pes cavus syndrome" RELATED [GARD:0003143, MESH:C537618]
xref: MEDGEN:419832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537618 {source="MONDO:equivalentTo"}
xref: UMLS:C2931549 {source="MEDGEN:419832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001008 {source="MESH:C537618"} ! blepharophimosis
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome" xsd:anyURI {source="GARD:0003143"}

[Term]
id: MONDO:0023577
name: Krieble Bixler syndrome
synonym: "autosomal dominant blepharophimosis with multiple congenital anomalies" RELATED [GARD:0003144, MESH:C537619]
xref: MEDGEN:419107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537619 {source="MONDO:equivalentTo"}
xref: UMLS:C2931550 {source="MEDGEN:419107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001008 {source="MESH:C537619"} ! blepharophimosis
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3144/krieble-bixler-syndrome" xsd:anyURI {source="GARD:0003144"}

[Term]
id: MONDO:0023579
name: Kuster Majewski Hammerstein syndrome
synonym: "alopecia macular degeneration growth retardation" RELATED [MESH:C538125]
synonym: "alopecia, macular degeneration, and growth retardation" RELATED [GARD:0003151, MESH:C538125]
xref: MEDGEN:444132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538125 {source="MONDO:equivalentTo"}
xref: UMLS:C2931740 {source="MEDGEN:444132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_feature HP:0000608 ! Macular degeneration
relationship: disease_has_feature HP:0001510 ! Growth delay
relationship: disease_has_feature HP:0001596 ! Alopecia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3151/kuster-majewski-hammerstein-syndrome" xsd:anyURI {source="GARD:0003151"}

[Term]
id: MONDO:0023581
name: Kuster syndrome
subset: gard_rare {source="GARD:3152", source="MONDO:GARD"}
subset: rare
synonym: "cleft lip and palate, lower lip pits, and limb deficiency defects" RELATED [GARD:0003152]
synonym: "cleft lip palate lip pits limb deficiency" RELATED [GARD:0003152]
xref: GARD:3152 {source="MONDO:GARD"}
xref: MEDGEN:419150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538126 {source="MONDO:equivalentTo"}
xref: UMLS:C2931741 {source="MEDGEN:419150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0004747 {source="MESH:C538126"} ! cleft lip
is_a: MONDO:0016064 {source="MESH:C538126"} ! cleft palate
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome" xsd:anyURI {source="GARD:0003152"}

[Term]
id: MONDO:0023595
name: congenital myotonic dystrophy
def: "Myotonic dystrophy that is present at birth." [NCIT:C123308]
subset: gard_rare {source="GARD:9134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Congenital Myotonic dystrophies" RELATED [MESH:D009223]
synonym: "Congenital Myotonic dystrophy" RELATED [MESH:D009223, NCIT:C123308]
synonym: "Congenital myotonic dystrophy" RELATED [UMLS:C0410226]
synonym: "congenital myotonic dystrophy" EXACT [NCIT:C123308]
synonym: "dystrophies, Congenital Myotonic" RELATED [MESH:D009223]
synonym: "dystrophy, Congenital Myotonic" RELATED [MESH:D009223]
synonym: "Myotonic dystrophies, Congenital" RELATED [MESH:D009223]
synonym: "MYOTONIC dystrophy CONGEN" RELATED [MESH:D009223]
synonym: "Myotonic dystrophy, Congenital" RELATED [MESH:D009223]
xref: GARD:9134 {source="MONDO:GARD"}
xref: MEDGEN:98051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009223 {source="UMLS:C0410226"}
xref: NCIT:C123308 {source="MONDO:equivalentTo", source="UMLS:C0410226"}
xref: SCTID:240104008 {source="UMLS:C0410226"}
xref: UMLS:C0410226 {source="MONDO:equivalentTo", source="MEDGEN:98051", source="MONDO:MEDGEN"}
is_a: MONDO:0016107 {source="NCIT:C123308", source="UMLS:C0410226"} ! myotonic dystrophy
relationship: has_characteristic MONDO:0021136 {source="GARD:0009134"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0023597
name: laryngeal papillomatosis
def: "Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11." [GARD:0006864]
comment: Editor note: compare with MONDO:0000935
subset: gard_rare {source="GARD:6864", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "juvenile laryngeal papillomatosis" RELATED [MESH:C537876]
synonym: "juvenile laryngeal papillomatosis (subtype)" RELATED [GARD:0006864]
synonym: "laryngeal papillomatosis" EXACT []
synonym: "recurrent laryngeal papillomatosis" RELATED [MESH:C537876]
synonym: "recurrent laryngeal papillomatosis (subtype)" RELATED [GARD:0006864]
synonym: "Warts in the throat" RELATED [GARD:0006864, MESH:C537876]
xref: GARD:6864 {source="MONDO:GARD"}
xref: MEDGEN:96006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537876 {source="MONDO:equivalentTo"}
xref: NCIT:C157733 {source="MONDO:equivalentTo"}
xref: SCTID:232457008 {source="MONDO:equivalentTo"}
xref: UMLS:C0396072 {source="MEDGEN:96006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002354 ! benign laryngeal neoplasm
is_a: MONDO:0002363 {source="MESH:C537876"} ! papilloma
is_a: MONDO:0018955 ! recurrent respiratory papillomatosis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis" xsd:anyURI {source="GARD:0006864"}

[Term]
id: MONDO:0023599
name: mesomelic dysplasia
def: "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." [NCIT:C121156]
synonym: "Mesomelic dwarf" RELATED [UMLS:C0410536]
synonym: "Mesomelic Dysplasia" RELATED [NCIT:C121156]
synonym: "Mesomelic dysplasia" RELATED [UMLS:C0410536]
synonym: "mesomelic dysplasia" EXACT [NCIT:C121156]
synonym: "mesomelic dysplasias" EXACT [NCIT:C121156]
xref: MEDGEN:593147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121156 {source="MONDO:equivalentTo", source="UMLS:C0410536"}
xref: SCTID:205473008 {source="MONDO:equivalentTo", source="UMLS:C0410536"}
xref: UMLS:C0410536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:593147"}
is_a: MONDO:0005516 {source="NCIT:C121156", source="UMLS:C0410536"} ! osteochondrodysplasia

[Term]
id: MONDO:0023601
name: non-classic congenital adrenal hyperplasia
def: "A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement." [NCIT:C131442]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "attenuated congenital adrenal hyperplasia" RELATED [MESH:C537877]
synonym: "late-onset congenital adrenal hyperplasia" EXACT [NCIT:C131442]
synonym: "LOCAH" RELATED ABBREVIATION [MESH:C537877]
synonym: "NCCAH" RELATED ABBREVIATION [MESH:C537877]
synonym: "non classic congenital adrenal hyperplasia" RELATED [MESH:C537877]
synonym: "non-classic congenital adrenal hyperplasia" EXACT CLINGEN_LABEL [NCIT:C131442]
xref: MEDGEN:90982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537877 {source="MONDO:equivalentTo"}
xref: NCIT:C131442 {source="MONDO:equivalentTo"}
xref: UMLS:C0342467 {source="MEDGEN:90982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018479 {source="MESH:C537877", source="NCIT:C131442"} ! congenital adrenal hyperplasia
disjoint_from: MONDO:0060783 ! classic congenital adrenal hyperplasia
relationship: has_characteristic HP:0012825 ! Mild
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0023603
name: hereditary disorder of connective tissue
def: "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome." [NCIT:C97075]
subset: otar {source="MONDO:OTAR"}
synonym: "connective tissue hereditary disorder" EXACT [NCIT:C97075, UMLS:C0410787]
synonym: "Hereditary Connective Tissue Disorder" RELATED [NCIT:C97075]
synonym: "hereditary connective tissue disorder" EXACT [NCIT:C97075]
synonym: "Inherited disorder of connective tissue" RELATED [UMLS:C0410787]
synonym: "inherited disorder of connective tissue" RELATED []
synonym: "Mendelian connective tissue disorder" EXACT [https://orcid.org/0000-0002-0736-9199]
xref: MEDGEN:473110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97075 {source="MONDO:equivalentTo", source="UMLS:C0410787"}
xref: SCTID:363045008 {source="MONDO:equivalentTo", source="UMLS:C0410787"}
xref: UMLS:C0410787 {source="MEDGEN:473110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0003900 {source="NCIT:C97075", source="UMLS:C0410787"} ! connective tissue disorder
intersection_of: MONDO:0003900 ! connective tissue disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3606" xsd:anyURI

[Term]
id: MONDO:0023605
name: Laugier-Hunziker syndrome
synonym: "Laugier and Hunziker pigmentation" RELATED [GARD:0009669]
synonym: "Laugier-Hunziker syndrome" EXACT []
synonym: "LHS" RELATED ABBREVIATION [GARD:0009669]
xref: ICD9:528.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:98027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238706002 {source="MONDO:equivalentTo"}
xref: UMLS:C0406425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98027"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome" xsd:anyURI {source="GARD:0009669"}

[Term]
id: MONDO:0023607
name: Laurence-Prosser-Rocker syndrome
synonym: "Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly" RELATED [GARD:0003201]
synonym: "Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect" RELATED [GARD:0003201]
xref: MEDGEN:419133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537882 {source="MONDO:equivalentTo"}
xref: UMLS:C2931651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419133"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3201/laurence-prosser-rocker-syndrome" xsd:anyURI {source="GARD:0003201"}

[Term]
id: MONDO:0023609
name: le Marec-Bracq-Picaud syndrome
synonym: "complex malformation syndrome with brachymesomelia" RELATED [GARD:0000171, MESH:C536997]
xref: MEDGEN:444043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536997 {source="MONDO:equivalentTo"}
xref: UMLS:C2931385 {source="MEDGEN:444043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/171/le-marec-bracq-picaud-syndrome" xsd:anyURI {source="GARD:0000171"}

[Term]
id: MONDO:0023616
name: obsolete familial leiomyomatosis
comment: Term was retired in GARD.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1723" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007888

[Term]
id: MONDO:0023619
name: lentigo maligna melanoma
def: "Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible." [GARD:0009962]
subset: otar {source="MONDO:OTAR"}
synonym: "Hutchison melanotic freckle" RELATED [GARD:0009962]
synonym: "lentigo maligna melanoma" EXACT [NCIT:C9151]
synonym: "LMM" RELATED ABBREVIATION [GARD:0009962]
synonym: "malignant lentigo melanoma" EXACT [NCIT:C9151]
synonym: "SKLMM" RELATED ABBREVIATION [ONCOTREE:SKLMM]
xref: ICD9:172.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:8742/3 {source="NCIT:C9151"}
xref: MEDGEN:439437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9151 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SKLMM {source="MONDO:equivalentTo"}
xref: SCTID:302837001 {source="MONDO:equivalentTo"}
xref: UMLS:C2739810 {source="MEDGEN:439437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005012 {source="NCIT:C9151"} ! cutaneous melanoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma" xsd:anyURI {source="GARD:0009962"}

[Term]
id: MONDO:0023628
name: levator syndrome
def: "Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms." [GARD:0006899]
synonym: "anorectal spasm" RELATED []
synonym: "levator ani spasm syndrome" RELATED [GARD:0006899, MESH:C535890]
synonym: "levator ani syndrome" RELATED [GARD:0006899, MESH:C535890]
synonym: "levator syndrome" EXACT []
synonym: "painful spasm of anus" EXACT []
synonym: "paroxysmal proctalgia" RELATED []
synonym: "proctalgia fugax" RELATED []
synonym: "psychogenic anal spasm" RELATED []
xref: MEDGEN:98071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535890 {source="MONDO:equivalentTo"}
xref: NCIT:C113615 {source="MONDO:equivalentTo"}
xref: SCTID:62647006 {source="MONDO:equivalentTo"}
xref: UMLS:C0423738 {source="MEDGEN:98071", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0002519 {source="MESH:C535890", source="NCIT:C113615/inferred"} ! anus disorder
relationship: disease_has_feature MONDO:0001274 ! anal spasm
relationship: disease_has_location UBERON:0001326 ! levator ani muscle
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome" xsd:anyURI {source="GARD:0006899"}

[Term]
id: MONDO:0023642
name: Weber syndrome
subset: gard_rare {source="GARD:8676", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Midbrain stroke syndromes" RELATED [GARD:0008676]
synonym: "Weber Syndrome" RELATED [MESH:D020526, UMLS:C0455717]
synonym: "Weber-Gubler syndrome" EXACT [UMLS:C0455717]
xref: GARD:8676 {source="MONDO:GARD"}
xref: ICD9:344.89
xref: MEDGEN:96812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020526 {source="UMLS:C0455717"}
xref: SCTID:24654003 {source="UMLS:C0455717", source="MONDO:equivalentTo"}
xref: UMLS:C0455717 {source="MEDGEN:96812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001584 ! ocular motility disease
relationship: has_characteristic MONDO:0021136 {source="GARD:0008676"} ! rare

[Term]
id: MONDO:0023644
name: lip and oral cavity carcinoma
def: "A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas." [NCIT:C9315]
subset: otar {source="MONDO:OTAR"}
synonym: "lip and oral cavity cancer" EXACT [NCIT:C9315]
synonym: "lip and oral cavity carcinoma" EXACT [NCIT:C9315]
synonym: "oral cancer" EXACT [NCIT:C9315]
synonym: "oral carcinoma" EXACT [NCIT:C9315]
xref: MEDGEN:67387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9315 {source="MONDO:equivalentTo"}
xref: UMLS:C0220641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67387"}
is_a: MONDO:0002038 {source="NCIT:C9315"} ! head and neck carcinoma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer" xsd:anyURI {source="GARD:0009342"}

[Term]
id: MONDO:0023646
name: lipodermatosclerosis
def: "Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy." [GARD:0009671]
subset: gard_rare {source="GARD:9671", source="MONDO:GARD"}
subset: rare
synonym: "acute lipodermatosclerosis" RELATED [GARD:0009671, MESH:C537026]
synonym: "hypodermitis sclerodermaformis" RELATED [GARD:0009671]
synonym: "sclerosing panniculitis" RELATED [GARD:0009671]
xref: GARD:9671 {source="MONDO:GARD"}
xref: MEDGEN:140802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537026 {source="MONDO:equivalentTo"}
xref: SCTID:410016009 {source="MONDO:equivalentTo"}
xref: UMLS:C0406500 {source="MEDGEN:140802", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002406 {source="MESH:C537026", source="MONDO:Redundant"} ! dermatitis
is_a: MONDO:0006591 {source="GARD:text"} ! panniculitis
is_a: MONDO:0019562 {source="MESH:C537026"} ! localized scleroderma
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis" xsd:anyURI {source="GARD:0009671"}

[Term]
id: MONDO:0023650
name: littoral cell angioma of the spleen
def: "Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766879/]
subset: gard_rare {source="GARD:9714", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "littoral cell angioma" RELATED [GARD:0009714, MESH:C537031]
xref: GARD:9714 {source="MONDO:GARD"}
xref: MEDGEN:351507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537031 {source="MONDO:equivalentTo"}
xref: SCTID:418040002 {source="MONDO:equivalentTo"}
xref: UMLS:C1627365 {source="MEDGEN:351507", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006500 {source="MESH:C537031", source="MONDO:Redundant"} ! hemangioma
relationship: disease_has_location UBERON:0002106 ! spleen
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen" xsd:anyURI {source="GARD:0009714"}

[Term]
id: MONDO:0023655
name: immunodeficiency 14b, autosomal recessive
subset: clingen {source="MONDO:CLINGEN"}
synonym: "IMD14B" EXACT ABBREVIATION [OMIM:619281]
xref: MEDGEN:1787468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619281 {source="MONDO:equivalentTo"}
xref: UMLS:C5543301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787468"}
is_a: MONDO:0021094 {source="OMIM:619281"} ! immunodeficiency disease

[Term]
id: MONDO:0023657
name: intellectual developmental disorder, autosomal dominant 65
subset: gard_rare {source="GARD:18547", source="MONDO:GARD"}
subset: rare
synonym: "mental retardation, autosomal dominant 65" EXACT DEPRECATED [OMIM:619320]
synonym: "MRD65" EXACT ABBREVIATION [OMIM:619320]
xref: GARD:18547 {source="MONDO:GARD"}
xref: MEDGEN:1787923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619320 {source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="OMIM:619320"}
xref: UMLS:C5543371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787923"}
is_a: MONDO:0100172 {source="OMIM:619320"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0023659
name: developmental and epileptic encephalopathy 96
subset: gard_rare {source="GARD:16445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE96" EXACT ABBREVIATION [OMIM:619340]
xref: DOID:0070377 {source="MONDO:equivalentTo"}
xref: GARD:16445 {source="MONDO:GARD"}
xref: MEDGEN:1780167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619340 {source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="OMIM:619340"}
xref: UMLS:C5543446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780167"}
is_a: MONDO:0100062 {source="OMIM:619340"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0023660
name: angioedema, hereditary, 6
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HAE6" EXACT ABBREVIATION [OMIM:619363]
xref: MEDGEN:1785484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619363 {source="MONDO:equivalentTo"}
xref: UMLS:C5543516 {source="MONDO:equivalentTo", source="MEDGEN:1785484", source="MONDO:MEDGEN"}
is_a: MONDO:0019623 {source="OMIM:619363"} ! hereditary angioedema

[Term]
id: MONDO:0023662
name: lymphatic malformation 10
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LMPHM10" EXACT ABBREVIATION [OMIM:619369]
xref: MEDGEN:1780452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619369 {source="MONDO:equivalentTo"}
xref: UMLS:C5543531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780452"}
is_a: MONDO:0019313 {source="OMIM:619369"} ! lymphatic malformation

[Term]
id: MONDO:0023663
name: obsolete macrocephaly mesodermal hamartoma spectrum
comment: Editor note: consider merging, see discussion of Elattoproteus syndrome on https://omim.org/entry/176920
synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716]
synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716]
synonym: "hemihypertrophy and macrocephaly" RELATED [MESH:C537716]
synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" RELATED [MESH:C537716]
xref: MESH:C537716 {source="MONDO:obsoleteEquivalent"}
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/170/macrocephaly-mesodermal-hamartoma-spectrum" xsd:anyURI {source="GARD:0000170"}
is_obsolete: true
replaced_by: MONDO:0008318

[Term]
id: MONDO:0023664
name: spermatogenic failure 54
synonym: "SPGF54" EXACT ABBREVIATION [OMIM:619379]
xref: DOID:0112335 {source="MONDO:equivalentTo"}
xref: MEDGEN:1782493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619379 {source="MONDO:equivalentTo"}
xref: UMLS:C5543570 {source="MEDGEN:1782493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619379"} ! spermatogenic failure

[Term]
id: MONDO:0023670
name: Bardet-Biedl syndrome 20
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BBS20" EXACT ABBREVIATION [OMIM:619471]
xref: DOID:0081009 {source="MONDO:equivalentTo"}
xref: MEDGEN:934674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619471 {source="MONDO:equivalentTo"}
xref: UMLS:C4310707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934674"}
is_a: MONDO:0015229 {source="OMIM:619471"} ! Bardet-Biedl syndrome

[Term]
id: MONDO:0023671
name: oculopharyngodistal myopathy 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OPDM3" EXACT ABBREVIATION [OMIM:619473]
xref: DOID:0081299 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619473 {source="MONDO:equivalentTo"}
xref: UMLS:C5561956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794166"}
is_a: MONDO:0025193 {source="OMIM:619473"} ! oculopharyngodistal myopathy

[Term]
id: MONDO:0023679
name: hematohidrosis
def: "Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting." [GARD:0013131]
subset: gard_rare {source="GARD:13131", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Hematidrosis" RELATED [GARD:0013131]
synonym: "Hematohidrosis" RELATED [UMLS:C0473554]
xref: GARD:13131 {source="MONDO:GARD"}
xref: ICD10CM:L74.8 {source="GARD:0013131"}
xref: ICD9:705.89 {source="GARD:0013131"}
xref: MEDGEN:633305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238757003 {source="MONDO:equivalentTo", source="UMLS:C0473554"}
xref: UMLS:C0473554 {source="MEDGEN:633305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 ! skin disorder
relationship: has_characteristic MONDO:0021136 {source="GARD:0013131"} ! rare

[Term]
id: MONDO:0023682
name: tympanic paraganglioma
def: "A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss." [NCIT:C8428]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Glomus tympanicum paraganglioma" RELATED [GTR:AN0102048]
synonym: "Glomus Tympanicum Tumor" RELATED [MESH:D043604]
synonym: "Glomus tympanicum tumor" RELATED [GTR:AN0102047]
synonym: "Glomus Tympanicum Tumors" RELATED [MESH:D043604]
synonym: "Glomus Tympanicum Tumour" RELATED OMO:0003005 []
synonym: "Glomus tympanicum tumour" RELATED OMO:0003005 []
synonym: "Glomus Tympanicum Tumours" RELATED OMO:0003005 []
synonym: "Tumor, Glomus Tympanicum" RELATED [MESH:D043604]
synonym: "Tumors, Glomus Tympanicum" RELATED [MESH:D043604]
synonym: "Tympanic Paraganglioma" RELATED [NCIT:C8428]
synonym: "Tympanic paraganglioma" RELATED [UMLS:C0474820]
synonym: "tympanic paraganglioma" EXACT [NCIT:C8428]
xref: GTR:AN0102047 {source="UMLS:C0474820"}
xref: GTR:AN0102048 {source="UMLS:C0474820"}
xref: MEDGEN:105375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D043604 {source="MONDO:equivalentTo", source="UMLS:C0474820"}
xref: NCIT:C8428 {source="MONDO:equivalentTo", source="UMLS:C0474820"}
xref: SCTID:253031000 {source="MONDO:equivalentTo", source="UMLS:C0474820"}
xref: UMLS:C0474820 {source="MEDGEN:105375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: disease_has_location UBERON:0004114 ! tympanic cavity

[Term]
id: MONDO:0023691
name: maple syrup urine disease type 1A
def: "A maple syrup urine disease caused by mutations in BCKDHA." [https://orcid.org/0000-0002-6601-2165]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8594", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maple syrup urine disease type 1A" EXACT CLINGEN_LABEL []
synonym: "maple syrup urine disease, type IA" EXACT [OMIM:248600]
synonym: "MSUD type 1A" RELATED [GARD:0008594]
xref: GARD:8594 {source="MONDO:GARD"}
xref: MEDGEN:443950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:248600 {source="MONDO:equivalentTo"}
xref: UMLS:C2930989 {source="MONDO:equivalentTo", source="MEDGEN:443950", source="MONDO:MEDGEN"}
is_a: MONDO:0009563 {source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/986 {source="MONDO:mim2gene_medgen"} ! BCKDHA
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a" xsd:anyURI {source="GARD:0008594"}

[Term]
id: MONDO:0023692
name: maple syrup urine disease type 1B
def: "A maple syrup urine disease caused by mutations in BCKDHB." [https://orcid.org/0000-0002-6601-2165]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8597", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "maple syrup urine disease type 1B" EXACT CLINGEN_LABEL []
synonym: "MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex" RELATED [GARD:0008597]
synonym: "MSUD type 3 (formerly)" RELATED [GARD:0008597]
synonym: "MSUD type IB" RELATED [GARD:0008597]
xref: GARD:8597 {source="MONDO:GARD"}
xref: MEDGEN:443951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620698 {source="MONDO:equivalentTo"}
xref: UMLS:C2930990 {source="MEDGEN:443951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009563 {source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/987 {source="MONDO:mim2gene_medgen"} ! BCKDHB
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b" xsd:anyURI {source="GARD:0008597"}

[Term]
id: MONDO:0023693
name: maple syrup urine disease type 2
def: "A maple syrup urine disease caused by mutations in DBT." [https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:8596", source="MONDO:GARD"}
subset: rare
synonym: "maple syrup urine disease type 2" EXACT CLINGEN_LABEL []
synonym: "MSUD type 2" RELATED [GARD:0008596]
synonym: "MSUD2" RELATED ABBREVIATION [GARD:0008596]
xref: GARD:8596 {source="MONDO:GARD"}
xref: HGNC:2698 {source="GARD:0008596"}
xref: MEDGEN:343337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620699 {source="MONDO:equivalentTo"}
xref: UMLS:C1855371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343337"}
is_a: MONDO:0009563 {source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2698 {source="MONDO:mim2gene_medgen"} ! DBT
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2" xsd:anyURI {source="GARD:0008596"}

[Term]
id: MONDO:0023696
name: Marinesco-Sjogren-like syndrome
def: "A disease with similar features to Marinesco-Sjogren syndrome." [https://doi.org/10.1371/journal.pone.0169309]
synonym: "juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy" RELATED [GARD:0008745]
synonym: "juvenile cataract, cerebellar atrophy, mental retardation, and myopathy" RELATED DEPRECATED [GARD:0008745]
synonym: "Marinesco-Sjogren-like syndrome (MSLS)" RELATED [GARD:0008745]
xref: MEDGEN:163207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535913 {source="MONDO:equivalentTo"}
xref: OMIM:248810 {source="GARD:0008745", source="MONDO:equivalentObsolete"}
xref: UMLS:C0796036 {source="MEDGEN:163207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_shares_features_of MONDO:0009567 ! Marinesco-Sjogren syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18986 {source="https://doi.org/10.1371/journal.pone.0169309"} ! GBA2
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls" xsd:anyURI {source="GARD:0008745"}

[Term]
id: MONDO:0023699
name: Maroteaux Fonfria syndrome
subset: gard_rare {source="GARD:3397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "apert syndrome with polydactyly of hands and feet" RELATED [GARD:0003397, MESH:C536023]
synonym: "apparent apert syndrome with polydactyly" RELATED [GARD:0003397, MESH:C536023]
xref: GARD:3397 {source="MONDO:GARD"}
xref: MEDGEN:418985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536023 {source="MONDO:equivalentTo"}
xref: UMLS:C2931088 {source="MEDGEN:418985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007041 {source="MESH:C536023"} ! Apert syndrome
relationship: disease_has_feature HP:0010442 ! Polydactyly
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3397/maroteaux-fonfria-syndrome" xsd:anyURI {source="GARD:0003397"}

[Term]
id: MONDO:0023704
name: Martinez Monasterio Pinheiro syndrome
def: "A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder." [PMID:3037904]
subset: gard_rare {source="GARD:3404", source="MONDO:GARD"}
subset: n_of_one
subset: rare
synonym: "cleft lip-palate-oligodontia-syndactyly-hair alterations" RELATED [MESH:C536027]
synonym: "cleft lip/palate oligodontia syndactyly hair alterations" RELATED [GARD:0003404]
xref: GARD:3404 {source="MONDO:GARD"}
xref: MEDGEN:419330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536027 {source="MONDO:equivalentTo"}
xref: UMLS:C2931089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419330"}
is_a: MONDO:0007339 ! blepharocheilodontic syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3404/martinez-monasterio-pinheiro-syndrome" xsd:anyURI {source="GARD:0003404"}

[Term]
id: MONDO:0023726
name: mediastinal yolk sac tumor
def: "An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome." [NCIT:C6443]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "endodermal sinus neoplasm of mediastinum" EXACT [NCIT:C6443]
synonym: "endodermal sinus neoplasm of the mediastinum" EXACT [NCIT:C6443]
synonym: "endodermal sinus tumor of mediastinum" EXACT [NCIT:C6443]
synonym: "endodermal sinus tumor of the mediastinum" EXACT [NCIT:C6443]
synonym: "endodermal sinus tumour of mediastinum" EXACT OMO:0003005 []
synonym: "endodermal sinus tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "EST" RELATED ABBREVIATION [GARD:0008258]
synonym: "mediastinal endodermal sinus neoplasm" EXACT [NCIT:C6443]
synonym: "mediastinal endodermal sinus tumor" EXACT [NCIT:C6443]
synonym: "mediastinal endodermal sinus tumors" RELATED [GARD:0008258]
synonym: "mediastinal endodermal sinus tumour" EXACT OMO:0003005 []
synonym: "mediastinal endodermal sinus tumours" RELATED OMO:0003005 []
synonym: "mediastinal yolk Sac neoplasm" EXACT [NCIT:C6443]
synonym: "mediastinal yolk Sac tumor" EXACT [NCIT:C6443]
synonym: "mediastinal yolk Sac tumour" EXACT OMO:0003005 []
synonym: "mediastinum yolk sac tumor" EXACT [MONDO:patterns/location]
synonym: "mediastinum yolk sac tumour" EXACT OMO:0003005 []
synonym: "yolk Sac neoplasm of mediastinum" EXACT [NCIT:C6443]
synonym: "yolk Sac neoplasm of the mediastinum" EXACT [NCIT:C6443]
synonym: "yolk Sac tumor of mediastinum" EXACT [NCIT:C6443]
synonym: "yolk Sac tumor of the mediastinum" EXACT [NCIT:C6443]
synonym: "yolk Sac tumour of mediastinum" EXACT OMO:0003005 []
synonym: "yolk Sac tumour of the mediastinum" EXACT OMO:0003005 []
xref: MEDGEN:233176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6443 {source="MONDO:equivalentTo"}
xref: UMLS:C1334683 {source="MEDGEN:233176", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C6443"} ! yolk sac tumor
is_a: MONDO:0006298 {source="MONDO:Redundant", source="NCIT:C6443/inferred"} ! mediastinal malignant germ cell tumor
intersection_of: MONDO:0005744 ! yolk sac tumor
intersection_of: disease_has_location UBERON:0003728 ! mediastinum

[Term]
id: MONDO:0023757
name: meralgia paresthetica
def: "Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms." [GARD:0009417]
subset: gard_rare {source="GARD:9417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bernhardt's paresthesia" RELATED []
synonym: "bernhardt-rot syndrome" RELATED []
synonym: "Bernhardt-Roth syndrome" RELATED [GARD:0009417, MESH:C537458]
synonym: "compression of lateral cutaneous femoral nerve of thigh" RELATED []
synonym: "entrapment of lateral cutaneous nerve of thigh" RELATED []
synonym: "lateral cutaneous femoral nerve of thigh syndrome" RELATED []
synonym: "lateral femoral cutaneous nerve entrapment" RELATED [GARD:0009417, MESH:C537458]
synonym: "meralgia paraesthetica familial (type)" RELATED [GARD:0009417]
xref: GARD:9417 {source="MONDO:GARD"}
xref: ICD9:355.1 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:101817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537458 {source="MONDO:equivalentTo"}
xref: SCTID:85007004 {source="MONDO:equivalentTo"}
xref: UMLS:C0152110 {source="MEDGEN:101817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003615 {source="MESH:C537458"} ! nerve compression syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica" xsd:anyURI {source="GARD:0009417"}

[Term]
id: MONDO:0023807
name: obsolete midphalangeal hair
subset: not_a_disease
synonym: "Middigital hair" RELATED [GARD:0009992, OMIM:157200]
synonym: "midphalangeal hair" RELATED [OMIM:157200]
xref: MESH:C537471 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:157200 {source="MONDO:obsoleteEquivalent", source="GARD:0009992"}
is_obsolete: true

[Term]
id: MONDO:0023809
name: Milner-Khallouf-Gibson syndrome
synonym: "microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia" RELATED [GARD:0003670]
synonym: "Milner Khallouf Gibson syndrome" RELATED [GARD:0003670]
xref: MEDGEN:419429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537473 {source="MONDO:equivalentTo"}
xref: UMLS:C2931503 {source="MEDGEN:419429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: disease_shares_features_of MONDO:0019391 {source="MESH:C537473"} ! Fanconi anemia
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3670/milner-khallouf-gibson-syndrome" xsd:anyURI {source="GARD:0003670"}

[Term]
id: MONDO:0023820
name: obsolete Moebius axonal neuropathy hypogonadism
subset: nord_rare {source="MONDO:NORD"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7198" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016819

[Term]
id: MONDO:0023833
name: multifocal choroiditis
def: "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." [GARD:0009824]
subset: gard_rare {source="GARD:9824", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:9824 {source="MONDO:GARD"}
xref: MEDGEN:288551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537374 {source="MONDO:equivalentObsolete"}
xref: MESH:D000080364 {source="MONDO:equivalentTo"}
xref: SCTID:414783007 {source="MONDO:equivalentTo"}
xref: UMLS:C1533060 {source="MEDGEN:288551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001280 {source="MESH:C537374"} ! choroiditis
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis" xsd:anyURI {source="GARD:0009824"}

[Term]
id: MONDO:0023865
name: corneal infection
def: "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering." [NCIT:C83813]
subset: disease_grouping
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:519278"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "corneal infection" EXACT [NCIT:C83813, UMLS:C0729777]
synonym: "infection of cornea" EXACT [UMLS:C0729777]
synonym: "infective keratitis" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "keratitis caused by infection" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: MEDGEN:152673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C83813 {source="UMLS:C0729777", source="MONDO:equivalentTo"}
xref: Orphanet:519278 {source="MONDO:equivalentTo"}
xref: SCTID:312428002 {source="UMLS:C0729777", source="MONDO:equivalentTo"}
xref: UMLS:C0729777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152673"}
is_a: MONDO:0003085 {source="NCIT:C83813"} ! keratitis
is_a: MONDO:0043885 {source="NCIT:C83813", source="UMLS:C0729777"} ! eye infectious disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0023868
name: melanoma associated retinopathy
def: "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." [GARD:0012041]
subset: gard_rare {source="GARD:12041", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Melanoma Associated Retinopathy" RELATED [MESH:D059545]
synonym: "Melanoma associated retinopathy" RELATED [UMLS:C0730308]
synonym: "Melanoma-Associated Retinopathies" RELATED [MESH:D059545]
synonym: "Melanoma-Associated Retinopathy" RELATED [MESH:D059545]
synonym: "Melanoma-associated retinopathy" RELATED [UMLS:C0730308]
synonym: "Retinopathies, Melanoma-Associated" RELATED [MESH:D059545]
synonym: "Retinopathy, Melanoma-Associated" RELATED [MESH:D059545]
xref: GARD:12041 {source="MONDO:GARD"}
xref: MEDGEN:452708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059545 {source="UMLS:C0730308"}
xref: SCTID:312941005 {source="MONDO:equivalentTo", source="UMLS:C0730308"}
xref: UMLS:C0730308 {source="MEDGEN:452708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005283 ! retinal disorder
intersection_of: disease_arises_from_feature MONDO:0005105 ! melanoma
relationship: has_characteristic MONDO:0021136 {source="GARD:0012041"} ! rare

[Term]
id: MONDO:0023873
name: obsolete Noonan-like/multiple giant cell lesion syndrome
def: "OBSOLETE. Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure." [GARD:0004006]
synonym: "NL/MGCLS" RELATED [GARD:0004006]
xref: OMIM:163955 {source="GARD:0004006", source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
consider: MONDO:0008104
consider: MONDO:0012547

[Term]
id: MONDO:0023880
name: WHIM syndrome
subset: clingen {source="MONDO:CLINGEN"}
xref: MEDGEN:96875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:193670 {source="MONDO:equivalentTo"}
xref: UMLS:C0472817 {source="MEDGEN:96875", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:193670"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:193670"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0023910
name: Martsolf syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:208658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:212720 {source="MONDO:equivalentTo"}
xref: UMLS:C0796037 {source="MEDGEN:208658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:212720"} ! hereditary disease
is_a: MONDO:0700247 {source="https://www.clinicalgenome.org/affiliation/40020/", source="https://www.ncbi.nlm.nih.gov/books/NBK475670/"} ! RAB18 deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:212720"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6942" xsd:anyURI

[Term]
id: MONDO:0023961
name: visceral neuropathy, familial
xref: MEDGEN:540202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:243180 {source="MONDO:equivalentTo"}
xref: UMLS:C0266834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540202"}
is_a: MONDO:0003847 {source="OMIMPS:243180"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:243180"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0024145
name: obsolete Pierre Robin syndrome associated with collagen disease
subset: ordo_group_of_disorders {source="Orphanet:138041"}
xref: GARD:19894 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:138041 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0018187

[Term]
id: MONDO:0024147
name: obsolete Pierre Robin syndrome associated with a chromosomal anomaly
subset: ordo_group_of_disorders {source="Orphanet:138047"}
xref: GARD:19896 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:138047 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0018187

[Term]
id: MONDO:0024148
name: obsolete Pierre Robin syndrome associated with branchial archs anomalies
subset: ordo_group_of_disorders {source="Orphanet:138050"}
xref: GARD:19897 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:138050 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0018187

[Term]
id: MONDO:0024149
name: obsolete Pierre Robin syndrome associated with bone disease
subset: ordo_group_of_disorders {source="Orphanet:138055"}
xref: GARD:19898 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:138055 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0018187

[Term]
id: MONDO:0024171
name: radio-digito-facial dysplasia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "Van Goethem syndrome" RELATED [GARD:0004629]
xref: Orphanet:3014 {source="GARD:0004629"}
is_a: MONDO:0002254 ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0024182
name: dry beriberi
synonym: "endemic neuritis" RELATED [Wikipedia:Thiamine_deficiency]
xref: DOID:0070318 {source="MONDO:equivalentTo"}
xref: ICD10CM:E51.11 {source="DOID:0070318"}
xref: MEDGEN:541401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:71021002 {source="DOID:0070318"}
xref: UMLS:C0268670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541401"}
is_a: MONDO:0006676 {source="DOID:0070318"} ! beriberi
intersection_of: MONDO:0006676 ! beriberi
intersection_of: disease_has_location UBERON:0001009 ! circulatory system

[Term]
id: MONDO:0024183
name: wet beriberi
xref: DOID:0070317 {source="MONDO:equivalentTo"}
xref: ICD10CM:E51.12 {source="DOID:0070317"}
xref: MEDGEN:541400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:67360000 {source="DOID:0070317"}
xref: UMLS:C0268669 {source="MEDGEN:541400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006676 {source="DOID:0070317"} ! beriberi
intersection_of: MONDO:0006676 ! beriberi
intersection_of: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0024189
name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
xref: OMIMPS:616263 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:616263"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:616263"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0024193
name: portal hypertension, noncirrhotic
xref: MEDGEN:934702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:617068 {source="MONDO:equivalentTo"}
xref: UMLS:C4310735 {source="MEDGEN:934702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:617068"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617068"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0024227
name: miliaria pustulosa
def: "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection." [DOID:0070319]
xref: DOID:0070319 {source="MONDO:equivalentTo"}
xref: MEDGEN:507949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:26988005 {source="MONDO:equivalentTo", source="DOID:0070319"}
xref: UMLS:C0026114 {source="MEDGEN:507949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006580 {source="DOID:0070319"} ! miliaria

[Term]
id: MONDO:0024228
name: miliaria profunda
def: "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash." [DOID:0070320]
xref: DOID:0070320 {source="MONDO:equivalentTo"}
xref: MEDGEN:537908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:47317002 {source="MONDO:equivalentTo"}
xref: UMLS:C0263468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:537908"}
is_a: MONDO:0006580 {source="DOID:0070320"} ! miliaria

[Term]
id: MONDO:0024229
name: miliaria crystallina
def: "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum." [DOID:0070321]
xref: DOID:0070321 {source="MONDO:equivalentTo"}
xref: ICD10CM:L74.1 {source="DOID:0070321"}
xref: MEDGEN:757640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:44279002 {source="DOID:0070321"}
xref: UMLS:C3241961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:757640"}
is_a: MONDO:0006580 {source="DOID:0070321"} ! miliaria

[Term]
id: MONDO:0024234
name: Seckel like syndrome majoor-krakauer type
synonym: "Bird-headed dwarfism microcephaly micrognathia" RELATED [GARD:0004781]
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4781/seckel-like-syndrome-majoor-krakauer-type" xsd:anyURI {source="GARD:0004781"}

[Term]
id: MONDO:0024235
name: Brenner tumor
def: "A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature." [NCIT:C39954]
synonym: "Brenner tumor" EXACT [NCIT:C39954]
xref: ICDO:9000/0 {source="NCIT:C39954"}
xref: MEDGEN:1645498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001948 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C39954 {source="MONDO:equivalentTo"}
xref: ONCOTREE:BTOV {source="MONDO:equivalentTo"}
xref: UMLS:C4551593 {source="MONDO:equivalentTo", source="MEDGEN:1645498", source="MONDO:MEDGEN"}
is_a: MONDO:0037254 {source="NCIT:C39954"} ! transitional cell neoplasm
relationship: disease_has_location UBERON:0000990 ! reproductive system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0024236
name: obsolete degenerative disorder
def: "OBSOLETE. A disorder characterized by the progressive loss of function and/or structure of the affected tissues." [NCIT:C27090]
comment: The subclasses were not a disease but a feature or a process.
synonym: "degenerative disease" EXACT [NCIT:C27090]
synonym: "degenerative disorder" EXACT [NCIT:C27090]
xref: ICD9:796.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: NCIT:C27090 {source="MONDO:ObsoleteEquivalent"}
xref: SCTID:362975008 {source="MONDO:ObsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/528" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0024237
name: inherited neurodegenerative disorder
def: "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." [NCIT:C97073]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="GARD:20280", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183500"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic neurodegenerative disease" EXACT [MONDO:0015952, MONDO:patterns/genetic]
synonym: "hereditary neurodegenerative disease" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary neurodegenerative disorder" EXACT [NCIT:C97073]
xref: GARD:20280 {source="MONDO:GARD"}
xref: MEDGEN:1825988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020271 {source="MONDO:equivalentTo"}
xref: NCIT:C97073 {source="MONDO:equivalentTo"}
xref: Orphanet:183500 {source="MONDO:equivalentTo"}
xref: UMLS:C5680568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825988"}
is_a: MONDO:0005559 {source="MESH:D020271", source="MONDO:Redundant", source="NCIT:C97073"} ! neurodegenerative disease
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: excluded_subClassOf MONDO:0002320 {source="NCIT:C97073", source="https://orcid.org/0000-0001-5208-3432"} ! congenital nervous system disorder

[Term]
id: MONDO:0024238
name: cerebral degeneration
def: "A neurodegenerative disease that involves the telencephalon." [MONDO:patterns/location]
synonym: "cerebral degeneration" EXACT []
synonym: "neurodegenerative disease of telencephalon" EXACT [MONDO:design_pattern]
synonym: "telencephalon neurodegenerative disease" EXACT [MONDO:patterns/location]
xref: ICD9:331.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:56343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:418143002 {source="MONDO:equivalentTo"}
xref: UMLS:C0154671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56343"}
is_a: MONDO:0005560 {source="MONDO:Redundant"} ! brain disorder
intersection_of: MONDO:0005559 ! neurodegenerative disease
intersection_of: disease_has_location UBERON:0001893 ! telencephalon

[Term]
id: MONDO:0024239
name: congenital anomaly of cardiovascular system
def: "A disease that has its basis in the disruption of cardiovascular system development." [MONDO:patterns/basis_in_disruption_of_process]
subset: otar {source="MONDO:OTAR"}
synonym: "cardiovascular system development disease" EXACT [MONDO:design_pattern]
synonym: "congenital Abnormality of the circulatory system" EXACT [NCIT:C35729]
synonym: "congenital anomaly of cardiovascular system" EXACT []
synonym: "congenital cardiovascular Abnormality" EXACT [NCIT:C35729]
synonym: "congenital cardiovascular anomaly" EXACT [NCIT:C35729]
synonym: "congenital cardiovascular disorder" RELATED []
synonym: "disorder of cardiovascular system development" EXACT [MONDO:patterns/basis_in_disruption_of_process]
xref: ICD10CM:Q20-Q28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:747.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:747.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:777113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35729 {source="MONDO:equivalentTo"}
xref: SCTID:9904008 {source="MONDO:equivalentTo"}
xref: UMLS:C3665496 {source="MEDGEN:777113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="NCIT:C35729/inferred"} ! cardiovascular disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0072359 ! circulatory system development

[Term]
id: MONDO:0024240
name: eccrine carcinoma
def: "An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma." [NCIT:C27255]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of eccrine sweat gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma, eccrine gland, malignant" EXACT [NCIT:C27255]
synonym: "eccrine adenocarcinoma" EXACT [DOID:4920, NCIT:C27255]
synonym: "eccrine adenocarcinoma (morphologic abnormality)" EXACT [DOID:4920]
synonym: "eccrine carcinoma" EXACT [NCIT:C27255]
synonym: "eccrine carcinoma of skin" EXACT []
synonym: "eccrine sweat gland adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "eccrine sweat gland carcinoma" EXACT [MONDO:patterns/location]
xref: DOID:4920 {source="MONDO:equivalentTo"}
xref: ICDO:8413/3 {source="NCIT:C27255"}
xref: MEDGEN:724404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27255 {source="MONDO:equivalentTo"}
xref: SCTID:128686000 {source="DOID:4920"}
xref: SCTID:400173004 {source="MONDO:equivalentTo"}
xref: UMLS:C1302864 {source="MEDGEN:724404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005506 {source="DOID:4920", source="MONDO:Redundant", source="NCIT:C27255"} ! eccrine sweat gland cancer
is_a: MONDO:0005524 {source="MONDO:Redundant", source="NCIT:C27255"} ! sweat gland carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000423 ! eccrine sweat gland

[Term]
id: MONDO:0024245
name: ductal eccrine adenocarcinoma
synonym: "anaplastic syringoma" EXACT [DOID:5570]
synonym: "ductal eccrine adenocarcinoma" EXACT [NCIT:C43345]
synonym: "ductal eccrine carcinoma" EXACT [NCIT:C43345]
synonym: "eccrine ductal carcinoma" EXACT [DOID:5570]
synonym: "eccrine ductal carcinoma (morphologic abnormality)" RELATED [DOID:5570]
synonym: "eccrine ductal carcinoma of skin" RELATED [DOID:5570]
synonym: "hidradenocarcinoma" RELATED [Wikipedia:Hidradenocarcinoma]
synonym: "malignant acrospiroma" EXACT [DOID:5570, MONDO:0003520]
synonym: "malignant hidradenoma" RELATED [Wikipedia:Hidradenocarcinoma]
synonym: "primary mucoepidermoid cutaneous carcinoma" RELATED [Wikipedia:Hidradenocarcinoma]
synonym: "sweat gland carcinoma of the hand" NARROW [PMID:2544641]
xref: DOID:5570 {source="MONDO:equivalentTo"}
xref: MEDGEN:266048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43345 {source="MONDO:equivalentTo", source="DOID:5570"}
xref: SCTID:400208002 {source="DOID:5570"}
xref: SCTID:403939009 {source="MONDO:equivalentTo", source="DOID:5570"}
xref: UMLS:C1260964 {source="MEDGEN:266048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002206 {source="DOID:5570", source="NCIT:C43345/inferred"} ! sweat gland cancer
is_a: MONDO:0024240 {source="NCIT:C43345"} ! eccrine carcinoma

[Term]
id: MONDO:0024246
name: syringofibroadenoma
def: "A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma." [NCIT:C43356]
synonym: "acrosyringeal adenomatosis" EXACT [HP:0031018, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "acrosyringeal nevus" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/]
synonym: "eccrine syringofibroadenoma" EXACT [NCIT:C43356]
synonym: "eccrine syringofibroadenoma of skin" RELATED []
synonym: "eccrine syringofibroadenomatous hyperplasia" EXACT [HP:0031018]
synonym: "syringofibroadenoma" EXACT [HP:0031018, NCIT:C43356]
xref: HP:0031018 {source="MONDO:otherHierarchy"}
xref: ICDO:8392/0 {source="NCIT:C43356"}
xref: MEDGEN:266096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43356 {source="MONDO:equivalentTo"}
xref: SCTID:403936002 {source="MONDO:equivalentTo"}
xref: UMLS:C1266060 {source="MEDGEN:266096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021110 {source="NCIT:C43356"} ! sweat gland adenoma
is_a: MONDO:0024247 {source="NCIT:C43356"} ! benign eccrine neoplasm

[Term]
id: MONDO:0024247
name: benign eccrine neoplasm
def: "A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma." [NCIT:C6797]
subset: otar {source="MONDO:OTAR"}
synonym: "benign eccrine neoplasm" EXACT [NCIT:C6797]
synonym: "benign eccrine neoplasm of skin" EXACT [NCIT:C6797]
synonym: "benign eccrine neoplasm of the skin" EXACT [NCIT:C6797]
synonym: "benign eccrine skin neoplasm" EXACT [NCIT:C6797]
synonym: "benign eccrine skin tumor" EXACT [NCIT:C6797]
synonym: "benign eccrine skin tumour" EXACT OMO:0003005 []
synonym: "benign eccrine sweat gland neoplasm" EXACT []
synonym: "benign eccrine tumor" EXACT [NCIT:C6797]
synonym: "benign eccrine tumor of skin" EXACT [NCIT:C6797]
synonym: "benign eccrine tumor of the skin" EXACT [NCIT:C6797]
synonym: "benign eccrine tumour" EXACT OMO:0003005 []
synonym: "benign eccrine tumour of skin" EXACT OMO:0003005 []
synonym: "benign eccrine tumour of the skin" EXACT OMO:0003005 []
synonym: "benign skin tumor with eccrine differentiation" EXACT []
synonym: "benign skin tumour with eccrine differentiation" EXACT OMO:0003005 []
synonym: "eccrine sweat gland neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: MEDGEN:231934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6797 {source="MONDO:equivalentTo"}
xref: SCTID:254715009 {source="MONDO:equivalentTo"}
xref: UMLS:C1332493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231934"}
is_a: MONDO:0002090 {source="MONDO:Redundant", source="NCIT:C6797"} ! eccrine sweat gland neoplasm
is_a: MONDO:0021489 {source="MONDO:Redundant", source="NCIT:C6797"} ! benign neoplasm of sweat gland
intersection_of: MONDO:0002090 ! eccrine sweat gland neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0024248
name: obsolete pityriasis
def: "OBSOLETE. A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" [MESH:D010915]
synonym: "Pityriases" RELATED [MESH:D010915]
xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D010915 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:34630004 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0024249
name: pityriasis lichenoides
def: "A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica)." [NCIT:C85013]
subset: gard_rare {source="GARD:10265", source="MONDO:GARD"}
subset: rare
synonym: "acute Pityriasis Lichenoides" NARROW [MESH:D017514]
synonym: "chronic Pityriasis Lichenoides" NARROW [MESH:D017514]
synonym: "parapsoriasis en gouttes" RELATED []
synonym: "parapsoriasis guttata" RELATED []
synonym: "Pityriasis Lichenoides" EXACT [NCIT:C85013]
synonym: "pityriasis lichenoides" EXACT []
synonym: "Pityriasis Lichenoides chronica" RELATED [MESH:D017514]
synonym: "Pityriasis Lichenoides et Varioliformis Acuta" RELATED [MESH:D017514]
synonym: "Pityriasis Lichenoides, acute" RELATED [MESH:D017514]
synonym: "Pityriasis Lichenoides, chronic" RELATED [MESH:D017514]
xref: GARD:10265 {source="MONDO:GARD"}
xref: MEDGEN:102482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017514 {source="MONDO:equivalentTo"}
xref: NCIT:C85013 {source="MONDO:equivalentTo"}
xref: SCTID:200983001 {source="MONDO:equivalentTo"}
xref: UMLS:C0162853 {source="MEDGEN:102482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006547 ! exanthem
is_a: MONDO:0006592 {source="MESH:D017514"} ! parapsoriasis
is_a: MONDO:0019293 ! skin vascular disease

[Term]
id: MONDO:0024250
name: acute lichenoid pityriasis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disease, Habermann" RELATED [MESH:D017514]
synonym: "disease, Habermann's" RELATED [MESH:D017514]
synonym: "disease, Mucha-Habermann" RELATED [MESH:D017514]
synonym: "Habermann disease" RELATED [MESH:D017514]
synonym: "Habermann's disease" RELATED [MESH:D017514]
synonym: "Habermanns disease" RELATED [MESH:D017514]
synonym: "Mucha Habermann disease" RELATED [MESH:D017514]
synonym: "mucha habermann disease" RELATED []
synonym: "Mucha-Habermann disease" RELATED [MESH:D017514]
synonym: "mucha-habermann disease" RELATED []
synonym: "mucha-habermann syndrome" RELATED []
synonym: "parapsoriasis lichenoides et varioliformis acuta" RELATED []
synonym: "parapsoriasis varioliformis acuta" RELATED []
synonym: "PLEVA" RELATED ABBREVIATION []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:57997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:86487001 {source="MONDO:equivalentTo"}
xref: UMLS:C0162852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57997"}
is_a: MONDO:0006547 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! exanthem
is_a: MONDO:0024249 ! pityriasis lichenoides
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0024251
name: Minamata disease
def: "A neurological syndrome caused by severe mercury poisoning." [Wikipedia:Minamata_disease]
synonym: "Chisso-Minamata disease" EXACT [Wikipedia:Minamata_disease]
xref: MEDGEN:43368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:39640004 {source="MONDO:equivalentTo"}
xref: UMLS:C0086626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43368"}
is_a: MONDO:0005071 {source="Wikipedia:Minamata_disease", source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder
relationship: excluded_subClassOf MONDO:0018020 {source="Wikipedia:Minamata_disease", source="https://orcid.org/0000-0001-5208-3432"} ! mercury poisoning

[Term]
id: MONDO:0024252
name: global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0014855 Intellectual developmental disorder, autosomal dominant 42
subset: gard_rare {source="GARD:17893", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:488613"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488613"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17893 {source="MONDO:GARD"}
xref: MEDGEN:1798905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:488613 {source="MONDO:equivalentTo"}
xref: UMLS:C5567482 {source="MEDGEN:1798905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015653 {source="Orphanet:488613"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:488613", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015368 {source="Orphanet:488613", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7597" xsd:anyURI
property_value: IAO:0006012 "2024-08-01" xsd:string

[Term]
id: MONDO:0024254
name: obsolete vibratory angioedema
is_obsolete: true
replaced_by: MONDO:0008657

[Term]
id: MONDO:0024255
name: obsolete genetic skin disease
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100118

[Term]
id: MONDO:0024257
name: hereditary motor neuron disease
def: "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:19478", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98505"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic anterior horn cell disease" EXACT [Orphanet:98505]
synonym: "genetic motor neuron disease" EXACT [MONDO:patterns/hereditary]
synonym: "hereditary motor neuron disease" EXACT [MONDO:patterns/hereditary]
xref: GARD:19478 {source="MONDO:GARD"}
xref: MEDGEN:78728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98505 {source="MONDO:equivalentTo"}
xref: SCTID:49793008 {source="MONDO:equivalentTo"}
xref: UMLS:C0270763 {source="MEDGEN:78728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020128 {source="MONDO:Redundant", source="Orphanet:98505"} ! motor neuron disorder
intersection_of: MONDO:0020128 ! motor neuron disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0024262
name: massive neonatal aspiration syndrome
xref: MEDGEN:542567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:10269001 {source="MONDO:equivalentTo"}
xref: UMLS:C0270152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:542567"}
is_a: MONDO:0002254 {source="MONDO:0024262/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005275 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! lung disorder
is_a: MONDO:0024263 {source="https://orcid.org/0000-0001-5208-3432"} ! neonatal aspiration syndrome

[Term]
id: MONDO:0024263
name: neonatal aspiration syndrome
def: "Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn." [NCIT:C118312]
comment: Editor note: TODO axiomatize using ECTO
xref: MEDGEN:578767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118312 {source="MONDO:equivalentTo"}
xref: SCTID:276533002 {source="MONDO:equivalentTo"}
xref: UMLS:C0349468 {source="MEDGEN:578767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0005275 {source="https://orcid.org/0000-0002-6601-2165"} ! lung disorder

[Term]
id: MONDO:0024264
name: hypothyroidism, congenital, nongoitrous, 2
def: "A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13." [DOID:0070124]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "athyreotic hypothyroidism" RELATED [OMIM:218700]
synonym: "CHNG2" EXACT ABBREVIATION [DOID:0070124, OMIM:218700]
synonym: "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" EXACT [DOID:0070124]
synonym: "congenital nongoitrous hypothyroidism 2" RELATED [DOID:0070124]
synonym: "hypothyroidism, athyreotic" RELATED [OMIM:218700]
synonym: "hypothyroidism, congenital, due to thyroid dysgenesis" RELATED [OMIM:218700]
synonym: "hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia" EXACT [OMIM:218700, OMIM:genemap2]
synonym: "hypothyroidism, congenital, nongoitrous, 2" EXACT [OMIM:218700]
synonym: "resistance to thyrotropin" RELATED [OMIM:218700]
synonym: "thyroid agenesis" RELATED [OMIM:218700]
synonym: "thyroid dysgenesis" RELATED [OMIM:218700]
synonym: "thyroid hypoplasia" RELATED [OMIM:218700]
synonym: "thyroid, ectopic" RELATED [OMIM:218700]
synonym: "thyrotropin resistance" RELATED [OMIM:218700]
xref: DOID:0070124 {source="MONDO:equivalentTo"}
xref: ICD10CM:E03.1 {source="DOID:0070124"}
xref: MEDGEN:358389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566852 {source="MONDO:equivalentTo"}
xref: OMIM:218700 {source="DOID:0070124", source="MONDO:equivalentTo"}
xref: Orphanet:95712 {source="MONDO:relatedTo", source="OMIM:218700"}
xref: Orphanet:95713 {source="MONDO:relatedTo", source="OMIM:218700"}
xref: Orphanet:95719 {source="MONDO:relatedTo", source="OMIM:218700"}
xref: Orphanet:95720 {source="MONDO:relatedTo", source="OMIM:218700"}
xref: UMLS:C1869118 {source="MEDGEN:358389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000045 {source="OMIM:218700"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0018612 {source="DOID:0070124", source="MONDO:indirect"} ! congenital hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024265
name: Duane syndrome type 1
def: "Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery." [GARD:0010763]
subset: gard_rare {source="GARD:10763", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Drs" RELATED [OMIM:126800]
synonym: "Duane anomaly" RELATED [OMIM:126800]
synonym: "Duane retraction syndrome 1" EXACT [OMIM:126800]
synonym: "Duane syndrome" RELATED [OMIM:126800]
synonym: "DURS1" EXACT ABBREVIATION [OMIM:126800]
synonym: "retraction syndrome" RELATED [OMIM:126800]
xref: GARD:10763 {source="MONDO:GARD"}
xref: MEDGEN:201329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:126800 {source="MONDO:equivalentTo", source="GARD:0010763"}
xref: Orphanet:233 {source="GARD:0010763", source="OMIM:126800"}
xref: SCTID:128082002 {source="MONDO:equivalentTo"}
xref: UMLS:C0994516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:201329"}
is_a: MONDO:0007473 {source="OMIM:126800"} ! Duane retraction syndrome
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10763/duane-syndrome-type-1" xsd:anyURI {source="GARD:0010763"}

[Term]
id: MONDO:0024266
name: patent ductus arteriosus 3
def: "Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18490", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "patent ductus arteriosus 3" EXACT [OMIM:617039]
synonym: "patent ductus arteriosus caused by mutation in PRDM6" EXACT [MONDO:design_pattern]
synonym: "PDA3" EXACT ABBREVIATION [OMIM:617039]
synonym: "PRDM6 patent ductus arteriosus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18490 {source="MONDO:GARD"}
xref: MEDGEN:934720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617039 {source="MONDO:equivalentTo"}
xref: Orphanet:466729 {source="OMIM:617039"}
xref: UMLS:C4310753 {source="MEDGEN:934720", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011827 {source="DC-OMIM:617039", source="MONDO:Redundant", source="OMIM:617039"} ! patent ductus arteriosus
intersection_of: MONDO:0011827 ! patent ductus arteriosus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9350 ! PRDM6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9350 {source="MONDO:mim2gene_medgen"} ! PRDM6

[Term]
id: MONDO:0024267
name: obsolete epidemic encephalitis
is_obsolete: true
replaced_by: MONDO:0019384

[Term]
id: MONDO:0024268
name: superficial mycosis
def: "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." [https://www.ncbi.nlm.nih.gov/books/NBK7902/]
subset: otar {source="MONDO:OTAR"}
synonym: "piedra" NARROW [DOID:0050133]
synonym: "steroid-modified tinea infection" EXACT [DOID:0050133]
synonym: "stratum corneum of epidermis fungal infectious disease" EXACT [MONDO:patterns/location]
xref: DOID:0050133 {source="MONDO:equivalentTo"}
xref: ICD10CM:B36.9 {source="DOID:0050133"}
xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:755998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010854 {source="DOID:0050133"}
xref: SCTID:187002008 {source="DOID:0050133"}
xref: SCTID:187476003 {source="DOID:0050133"}
xref: SCTID:276206000 {source="DOID:0050133", source="MONDO:equivalentTo"}
xref: SCTID:402135006 {source="DOID:0050133"}
xref: UMLS:C2980104 {source="MONDO:equivalentTo", source="MEDGEN:755998", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="DOID:0050133", source="MONDO:Redundant"} ! fungal infectious disease
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: disease_has_location UBERON:0002027 ! stratum corneum of epidermis
relationship: disease_has_location UBERON:0002027 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! stratum corneum of epidermis
relationship: has_characteristic MONDO:0045042 ! restricted to specific location

[Term]
id: MONDO:0024270
name: parasitic intestinal disorder
def: "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS." [MESH:D007411]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, parasitic intestinal" RELATED [MESH:D007411]
synonym: "diseases, parasitic intestinal" RELATED [MESH:D007411]
synonym: "intestinal disease, parasitic" RELATED [MESH:D007411]
synonym: "intestine parasitic infection" EXACT [MONDO:patterns/location]
synonym: "parasitic intestinal disease" EXACT [MESH:D007411]
synonym: "parasitic intestinal diseases" RELATED [MESH:D007411]
xref: EFO:0009561 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:7131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007411 {source="MONDO:equivalentTo"}
xref: UMLS:C0021832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7131"}
is_a: MONDO:0005020 {source="MESH:D007411", source="MONDO:Entailed", source="MONDO:Redundant"} ! intestinal disorder
is_a: MONDO:0005135 {source="MESH:D007411", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! parasitic infectious disease
intersection_of: MONDO:0005135 ! parasitic infectious disease
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0024271
name: intestinal helminthiasis
def: "A parasitic helminthiasis infectious disease that involves the intestine." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "intestine parasitic helminthiasis infectious disease" EXACT [MONDO:patterns/location]
xref: MEDGEN:87591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531698 {source="MONDO:equivalentTo"}
xref: SCTID:26249004 {source="MONDO:equivalentTo"}
xref: UMLS:C0348287 {source="MEDGEN:87591", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004664 {source="MESH:C531698", source="MONDO:Redundant"} ! helminthiasis
is_a: MONDO:0024270 {source="MESH:C531698", source="MONDO:Entailed", source="MONDO:Redundant"} ! parasitic intestinal disorder
intersection_of: MONDO:0004664 ! helminthiasis
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0024275
name: amebic dysentery
def: "Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites." [MESH:D004404]
subset: otar {source="MONDO:OTAR"}
synonym: "Amebiases, intestinal" RELATED [MESH:D004404]
synonym: "amebiasis, intestinal" RELATED [MESH:D004404]
synonym: "amebic colitides" RELATED [MESH:D004404]
synonym: "amebic colitis" RELATED [MESH:D004404]
synonym: "amebic dysenteries" RELATED [MESH:D004404]
synonym: "amebic dysentery" EXACT [GARD:0000652, MESH:D004404]
synonym: "amoebiases, intestinal" RELATED [MESH:D004404]
synonym: "amoebiasis due to Entamoeba histolytica" NARROW [GARD:0000652]
synonym: "amoebiasis, intestinal" RELATED [MESH:D004404]
synonym: "amoebic Colitides" RELATED [MESH:D004404]
synonym: "amoebic colitis" RELATED [MESH:D004404]
synonym: "amoebic dysenteries" RELATED [MESH:D004404]
synonym: "amoebic dysentery" RELATED [MESH:D004404]
synonym: "amoebic dysentery due to Entamoeba histolytica" NARROW [GARD:0000652]
synonym: "Colitides, amebic" RELATED [MESH:D004404]
synonym: "Colitides, amoebic" RELATED [MESH:D004404]
synonym: "colitis, amebic" RELATED [MESH:D004404]
synonym: "colitis, amoebic" RELATED [MESH:D004404]
synonym: "dysenteries, amebic" RELATED [MESH:D004404]
synonym: "dysenteries, amoebic" RELATED [MESH:D004404]
synonym: "dysentery, amoebic" RELATED [MESH:D004404]
synonym: "Entamoebiases, intestinal" RELATED [MESH:D004404]
synonym: "entamoebiasis, intestinal" RELATED [MESH:D004404]
synonym: "intestinal Amebiases" RELATED [MESH:D004404]
synonym: "intestinal amebiasis" RELATED [GARD:0000652, MESH:D004404]
synonym: "intestinal Amoebiases" RELATED [MESH:D004404]
synonym: "intestinal amoebiasis" RELATED [MESH:D004404]
synonym: "intestinal Entamoebiases" RELATED [MESH:D004404]
synonym: "intestinal entamoebiasis" RELATED [MESH:D004404]
xref: MEDGEN:8512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004404 {source="MONDO:equivalentTo"}
xref: NCIT:C34558 {source="MONDO:equivalentTo"}
xref: UMLS:C0013370 {source="MEDGEN:8512", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001517 {source="MESH:D004404", source="MONDO:indirect"} ! dysentery
is_a: MONDO:0005644 {source="MESH:D004404", source="MONDO:Redundant"} ! amebiasis
is_a: MONDO:0024270 {source="MESH:D004404", source="MONDO:Redundant", source="MONDO:indirect"} ! parasitic intestinal disorder
intersection_of: MONDO:0001517 ! dysentery
intersection_of: MONDO:0005644 ! amebiasis

[Term]
id: MONDO:0024276
name: glandular cell neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "glandular cell epithelial neoplasm" EXACT [NCIT:C7132]
synonym: "glandular cell epithelium neoplasm" EXACT [NCIT:C7132]
synonym: "glandular cell neoplasm" EXACT [NCIT:C7132]
synonym: "glandular cell tumor" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "glandular cell tumour" EXACT OMO:0003005 []
xref: HP:0031493 {source="MONDO:otherHierarchy"}
xref: MEDGEN:64458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7132 {source="MONDO:equivalentTo"}
xref: UMLS:C0205854 {source="MEDGEN:64458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005626 {source="NCIT:C7132"} ! epithelial neoplasm

[Term]
id: MONDO:0024277
name: neonatal thrombocytopenia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neonatal purpura" RELATED []
synonym: "neonatal thrombocytopenia" EXACT []
synonym: "purpura of newborn" RELATED []
xref: MEDGEN:526130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054098 {source="MONDO:equivalentTo"}
xref: SCTID:82835005 {source="MONDO:equivalentTo"}
xref: UMLS:C0221028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:526130"}
is_a: MONDO:0002049 {source="MESH:D054098"} ! thrombocytopenia

[Term]
id: MONDO:0024278
name: proctocolitis
def: "Inflammation of the rectum and colon." [NCIT:C77952]
synonym: "colorectum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of colorectum" EXACT []
synonym: "proctocolitis" EXACT [NCIT:C77952]
xref: MEDGEN:18651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011350 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C77952 {source="MONDO:equivalentTo"}
xref: SCTID:418130002 {source="MONDO:equivalentTo"}
xref: UMLS:C0033247 {source="MEDGEN:18651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005292 {source="MONDO:Inferred"} ! colitis
is_a: MONDO:0005538 {source="MONDO:Inferred"} ! proctitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0012652 ! colorectum

[Term]
id: MONDO:0024279
name: chronic endometritis
def: "A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding." [NCIT:C102820]
synonym: "chronic endometritis" EXACT [NCIT:C102820]
synonym: "endometritis, chronic" EXACT [MONDO:patterns/chronic]
xref: MEDGEN:536766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C102820 {source="MONDO:equivalentTo"}
xref: SCTID:63922003 {source="MONDO:equivalentTo"}
xref: UMLS:C0238104 {source="MEDGEN:536766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000918 {source="MONDO:Redundant", source="NCIT:C102820"} ! endometritis
intersection_of: MONDO:0000918 ! endometritis
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0024280
name: polyarticular arthritis
def: "An arthritis affecting five or more separate joints." [NCIT:C26996]
subset: otar {source="MONDO:OTAR"}
synonym: "polyarthritis" EXACT [NCIT:C26996]
synonym: "polyarticular arthritis" EXACT [NCIT:C26996]
xref: MEDGEN:56408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26996 {source="MONDO:equivalentTo"}
xref: SCTID:416956002 {source="MONDO:equivalentTo"}
xref: UMLS:C0162323 {source="MEDGEN:56408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005578 {source="NCIT:C26996"} ! arthritic joint disease

[Term]
id: MONDO:0024281
name: juvenile chronic polyarthritis
def: "A group of conditions used to describe polyarthritis occurring in children." [NCIT:C26979]
synonym: "juvenile chronic polyarthritis" EXACT [NCIT:C26979]
xref: MEDGEN:140816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26979 {source="MONDO:equivalentTo"}
xref: UMLS:C0409667 {source="MEDGEN:140816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024280 {source="NCIT:C26979"} ! polyarticular arthritis

[Term]
id: MONDO:0024282
name: mucinous ovarian cancer
def: "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma." [NCIT:C40033]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant ovarian mucinous neoplasm" EXACT [NCIT:C40033]
synonym: "malignant ovarian mucinous tumor" EXACT [NCIT:C40033]
synonym: "malignant ovarian mucinous tumour" EXACT OMO:0003005 []
synonym: "ovarian mucinous neoplasm, malignant" EXACT [MONDO:patterns/malignant]
xref: MEDGEN:274767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40033 {source="MONDO:equivalentTo"}
xref: NCIT:C5242 {source="ONCOTREE:MOV"}
xref: ONCOTREE:MOV {source="MONDO:equivalentTo"}
xref: UMLS:C1518233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274767"}
is_a: MONDO:0002229 {source="NCIT:C40033/inferred", source="ONCOTREE:MOV"} ! ovarian epithelial tumor
is_a: MONDO:0003756 {source="MONDO:Redundant", source="NCIT:C40033"} ! ovarian mucinous neoplasm
is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40033"} ! malignant epithelial tumor of ovary
intersection_of: MONDO:0003756 ! ovarian mucinous neoplasm
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0024283
name: Demodex folliculitis
def: "A demodicidosis that involves the hair follicle." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hair follicle demodicidosis" EXACT [MONDO:patterns/location]
xref: ICD9:133.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:581217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:240894003 {source="MONDO:equivalentTo"}
xref: UMLS:C0392666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581217"}
is_a: MONDO:0006552 {source="https://orcid.org/0000-0001-5208-3432"} ! folliculitis
intersection_of: MONDO:0017280 ! demodicidosis
intersection_of: disease_has_location UBERON:0002073 ! hair follicle
relationship: disease_has_infectious_agent NCBITaxon:481310 ! Demodex folliculorum

[Term]
id: MONDO:0024284
name: demodicidosis of sebaceous gland
def: "A demodicidosis that involves the sebaceous gland." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "sebaceous gland demodicidosis" EXACT [MONDO:patterns/location]
intersection_of: MONDO:0017280 ! demodicidosis
intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland
relationship: disease_has_infectious_agent NCBITaxon:574145 ! Demodex brevis

[Term]
id: MONDO:0024285
name: epsilon-heavy chain disease
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "IgE heavy chain disease" RELATED []
xref: ICD9:273.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:543922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:60620005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543922"}
is_a: MONDO:0019464 {source="https://orcid.org/0000-0001-5208-3432"} ! heavy chain disease

[Term]
id: MONDO:0024286
name: benign blood vessel neoplasm
def: "A benign neoplasm arising from arteries or veins." [NCIT:C8537]
subset: otar {source="MONDO:OTAR"}
synonym: "benign blood vessel neoplasm" EXACT [NCIT:C8537]
synonym: "benign blood vessel tumor" EXACT [NCIT:C8537]
synonym: "benign blood vessel tumour" EXACT OMO:0003005 []
xref: DOID:60006 {source="MONDO:equivalentTo"}
xref: MEDGEN:195779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8537 {source="MONDO:equivalentTo"}
xref: UMLS:C0685121 {source="MEDGEN:195779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021080 {source="MONDO:Redundant", source="NCIT:C8537"} ! blood vessel neoplasm
intersection_of: MONDO:0021080 ! blood vessel neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0024287
name: congenital vascular malformation
def: "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." [NCIT:C112117]
subset: otar {source="MONDO:OTAR"}
synonym: "congenital vascular malformation" EXACT [MONDO:patterns/congenital]
synonym: "vascular malformation" BROAD [NCIT:C112117]
xref: MEDGEN:743837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C112117 {source="MONDO:equivalentTo"}
xref: UMLS:C1961121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743837"}
intersection_of: MONDO:0024291 ! vascular malformation
intersection_of: has_characteristic MONDO:0021140 ! congenital

[Term]
id: MONDO:0024288
name: hyperbilirubinemia
def: "A disease characterized by elevated level of the pigment bilirubin in the blood." [https://www.medicinenet.com/script/main/art.asp?articlekey=3833]
comment: May be acquired or inherited
synonym: "bilirubinemia" RELATED []
synonym: "hyperbilirubinemia" EXACT []
xref: MEDGEN:86321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006932 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: SCTID:14783006 {source="MONDO:equivalentTo"}
xref: UMLS:C0311468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:86321"}
intersection_of: MONDO:0024431 ! bilirubin metabolism disease
intersection_of: disease_has_feature HP:0002904 ! Hyperbilirubinemia

[Term]
id: MONDO:0024289
name: obsolete disorder of bilirubin metabolism
is_obsolete: true
replaced_by: MONDO:0017755

[Term]
id: MONDO:0024290
name: enuresis
def: "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." [NCIT:C34588]
subset: otar {source="MONDO:OTAR"}
synonym: "enuresis" EXACT [NCIT:C34588]
xref: MEDGEN:8649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004775 {source="MONDO:equivalentTo"}
xref: NCIT:C34588 {source="MONDO:equivalentTo"}
xref: UMLS:C0014394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8649"}
intersection_of: MONDO:0002025 ! psychiatric disorder
intersection_of: realized_in MFOMD:0000105 ! enuresis

[Term]
id: MONDO:0024291
name: vascular malformation
def: "A non-neoplastic disorder that is the result of defects of vascular morphogenesis." [https://www.bsir.org/patients/vascular-malformations/]
comment: The majority are present at birth. Some can be acquired.
subset: otar {source="MONDO:OTAR"}
synonym: "malformation, vascular" RELATED [MESH:D054079]
synonym: "malformations, vascular" RELATED [MESH:D054079]
synonym: "vascular malformation" EXACT [MESH:D054079]
xref: EFO:0006888 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:56387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054079 {source="MONDO:equivalentTo"}
xref: NANDO:2100295 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C0158570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56387"}
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-4142-7153"} ! vascular disorder

[Term]
id: MONDO:0024292
name: gastrointestinal polyp
def: "A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps." [NCIT:C35516]
subset: otar {source="MONDO:OTAR"}
synonym: "gastrointestinal polyp" EXACT [NCIT:C35516]
synonym: "gastrointestinal tract polyp" EXACT [NCIT:C35516]
synonym: "GI polyp" EXACT [NCIT:C35516]
xref: MEDGEN:219797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35516 {source="MONDO:equivalentTo"}
xref: UMLS:C1257915 {source="MEDGEN:219797", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="NCIT:C35516"} ! digestive system disorder
is_a: MONDO:0005079 {source="MONDO:Redundant", source="NCIT:C35516"} ! polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_arises_from_structure UBERON:0001007 ! digestive system

[Term]
id: MONDO:0024293
name: obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980
xref: OMIM:175020 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3416" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017790

[Term]
id: MONDO:0024294
name: skin disorder caused by infection
def: "Skin diseases caused by bacteria, fungi, parasites, or viruses." [MESH:D012874]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, infectious skin" RELATED [MESH:D012874]
synonym: "diseases, infectious skin" RELATED [MESH:D012874]
synonym: "infectious skin disease" RELATED [MESH:D012874]
synonym: "infectious skin diseases" RELATED [MESH:D012874]
synonym: "skin disease, infectious" RELATED [MESH:D012874]
xref: MESH:D012874 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="MESH:D012874", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0024295
name: skin disease caused by bacterial infection
def: "Skin diseases caused by bacteria." [MESH:D017192]
subset: otar {source="MONDO:OTAR"}
synonym: "Bacteria caused skin disease caused by infection" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria skin disease caused by infection" EXACT []
synonym: "bacterial skin disease" RELATED [MESH:D017192]
synonym: "bacterial skin diseases" RELATED [MESH:D017192]
synonym: "disease, bacterial skin" RELATED [MESH:D017192]
synonym: "diseases, bacterial skin" RELATED [MESH:D017192]
synonym: "skin disease, bacterial" RELATED [MESH:D017192]
xref: MESH:D017192 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="MESH:D017192", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0024294 {source="MESH:D017192", source="MONDO:Entailed", source="MONDO:Redundant"} ! skin disorder caused by infection
intersection_of: MONDO:0024294 ! skin disorder caused by infection
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria

[Term]
id: MONDO:0024296
name: vascular neoplasm
def: "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells." [NCIT:C7388]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of vascular system" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of vascular tissue" EXACT [NCIT:C7388]
synonym: "neoplasms, vascular" EXACT [NCIT:C7388]
synonym: "tumor of vascular system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of vascular tissue" EXACT [NCIT:C7388]
synonym: "tumors, vascular" EXACT [NCIT:C7388]
synonym: "tumour of vascular system" EXACT OMO:0003005 []
synonym: "tumour of vascular tissue" EXACT OMO:0003005 []
synonym: "vascular neoplasm" EXACT [NCIT:C7388]
synonym: "vascular neoplasms" EXACT [NCIT:C7388]
synonym: "vascular system neoplasm" EXACT []
synonym: "vascular system neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "vascular system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "vascular system tumour" EXACT OMO:0003005 []
synonym: "vascular tissue neoplasm" EXACT [NCIT:C7388]
synonym: "vascular tissue tumor" EXACT [NCIT:C7388]
synonym: "vascular tissue tumour" EXACT OMO:0003005 []
synonym: "vascular tumor" EXACT [NCIT:C7388]
synonym: "vascular tumor, NOS" RELATED EXCLUDE [NCIT:C7388]
synonym: "vascular tumors" EXACT [NCIT:C7388]
synonym: "vascular tumour" EXACT OMO:0003005 []
synonym: "vascular tumours" EXACT OMO:0003005 []
xref: MEDGEN:129202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7388 {source="MONDO:equivalentTo"}
xref: UMLS:C0282607 {source="MEDGEN:129202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0007798 ! vascular system

[Term]
id: MONDO:0024297
name: obsolete nutritional or metabolic disease
def: "OBSOLETE. A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." [MESH:D009750]
comment: Editor note: consider expanding to include endocrine
xref: ICD10CM:E00-E90 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D009750 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3157" xsd:anyURI
is_obsolete: true
consider: MONDO:0005066
consider: MONDO:0005137

[Term]
id: MONDO:0024298
name: vitamin deficiency disorder
def: "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." [NCIT:C35772]
subset: otar {source="MONDO:OTAR"}
synonym: "Avitaminoses" RELATED [MESH:D001361]
synonym: "avitaminosis" EXACT [NCIT:C35772]
synonym: "deficiencies, vitamin" RELATED [MESH:D001361]
synonym: "deficiency, vitamin" RELATED [MESH:D001361]
synonym: "vitamin deficiencies" RELATED [MESH:D001361]
synonym: "vitamin deficiency" EXACT [MESH:D001361, NCIT:C35772]
synonym: "vitamin deficiency disorder" EXACT [NCIT:C35772]
xref: ICD9:269.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:269.2 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:267607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001361 {source="MONDO:equivalentTo"}
xref: NCIT:C35772 {source="MONDO:equivalentTo"}
xref: SCTID:85670002 {source="MONDO:equivalentTo"}
xref: UMLS:C1510471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267607"}
is_a: MONDO:0005137 {source="MESH:D001361/inferred", source="MONDO:Redundant", source="NCIT:C35772"} ! nutritional disorder
is_a: MONDO:0006873 {source="MESH:D001361", source="https://orcid.org/0000-0002-6601-2165"} ! nutritional deficiency disease

[Term]
id: MONDO:0024299
name: vitamin D-dependent rickets
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "VDDR" EXACT ABBREVIATION []
xref: DOID:0080883 {source="MONDO:equivalentTo"}
xref: MEDGEN:526251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200781 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100144 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200401 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:68295002 {source="MONDO:equivalentTo"}
xref: UMLS:C0221468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:526251"}
intersection_of: MONDO:0005520 ! rickets
intersection_of: disease_has_basis_in_disruption_of GO:0033280 ! response to vitamin D
relationship: disease_has_basis_in_disruption_of GO:0070561 ! vitamin D receptor signaling pathway

[Term]
id: MONDO:0024300
name: hypophosphatemic rickets
def: "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D." [NCIT:C131449]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired vitamin D resistant rickets" NARROW [MESH:D063730]
synonym: "acquired vitamin D-resistant rickets" NARROW [MESH:D063730]
synonym: "hypophosphatemia, vitamin D-resistant rickets" RELATED [MESH:D063730]
synonym: "hypophosphatemic Ricket" RELATED [MESH:D063730]
synonym: "hypophosphatemic rickets" EXACT [MESH:D063730, NCIT:C131449]
synonym: "hypophosphatemic vitamin D resistant rickets" RELATED [MESH:D063730]
synonym: "hypophosphatemic vitamin D-resistant rickets" RELATED [MESH:D063730]
synonym: "Phosphopenic rickets" EXACT [NCIT:C131449]
synonym: "Ricket, hypophosphatemic" RELATED [MESH:D063730]
synonym: "rickets, vitamin D resistant" RELATED DEPRECATED [MESH:D063730]
synonym: "rickets, vitamin D-resistant" RELATED DEPRECATED [MESH:D063730]
synonym: "vitamin D-resistant rickets" RELATED DEPRECATED [MESH:D063730]
xref: MEDGEN:309957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D063730 {source="MONDO:equivalentTo"}
xref: NANDO:1200778 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:1200780 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200402 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200403 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C131449 {source="MONDO:equivalentTo"}
xref: UMLS:C1704375 {source="MEDGEN:309957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005520 {source="MESH:D063730", source="NCIT:C131449"} ! rickets
relationship: disease_has_feature HP:0002148 {source="https://orcid.org/0000-0001-5208-3432"} ! Hypophosphatemia
relationship: disease_has_feature HP:0002748 {source="https://orcid.org/0000-0001-5208-3432"} ! Rickets

[Term]
id: MONDO:0024301
name: acquired mineral metabolism disease
def: "An instance of mineral metabolism disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired mineral metabolism disease" EXACT [MONDO:patterns/acquired]
synonym: "mineral metabolism disease" RELATED [DOID:0050032]
xref: DOID:0050032 {source="MONDO:equivalentTo"}
is_a: MONDO:0006504 {source="DOID:0050032", source="MONDO:Entailed", source="MONDO:Redundant"} ! acquired metabolic disease
intersection_of: MONDO:0000226 ! mineral metabolism disease
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0024302
name: internal hirudiniasis
def: "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx." [https://medical-dictionary.thefreedictionary.com/internal+hirudiniasis]
xref: ICD10CM:B83.4 {source="MONDO:equivalentTo"}
xref: MEDGEN:578592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:187227006 {source="MONDO:equivalentTo"}
xref: UMLS:C0348999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:578592"}
intersection_of: MONDO:0001191 ! hirudiniasis
intersection_of: disease_has_location UBERON:0004908 ! upper digestive tract

[Term]
id: MONDO:0024303
name: external hirudiniasis
def: "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate." [https://medical-dictionary.thefreedictionary.com/external+hirudiniasis]
xref: ICD10CM:B88.3 {source="MONDO:equivalentTo"}
xref: MEDGEN:838360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:1086871000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C0392037 {source="MEDGEN:838360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002875 ! parasitic ectoparasitic infectious disease
intersection_of: MONDO:0001191 ! hirudiniasis
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0024304
name: ichthyosis vulgaris
def: "The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin." [NCIT:C84778]
subset: gard_rare {source="GARD:6752", source="MONDO:GARD"}
subset: rare
synonym: "common ichthyosis" RELATED [GARD:0006752]
synonym: "fish scale disease" RELATED [GARD:0006752]
synonym: "ichthyosis vulgaris" EXACT [NCIT:C84778]
xref: GARD:6752 {source="MONDO:GARD"}
xref: MEDGEN:38217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016112 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C84778 {source="MONDO:equivalentTo"}
xref: UMLS:C0079584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38217"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
relationship: excluded_subClassOf MONDO:0019269 {source="NCIT:C84778", source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris" xsd:anyURI {source="GARD:0006752"}

[Term]
id: MONDO:0024305
name: acquired hyperprolactinemia
def: "An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: otar {source="MONDO:OTAR"}
synonym: "acquired hyperprolactinemia (disease)" EXACT [MONDO:patterns/acquired]
synonym: "Chiari-Frommel syndrome" EXACT [DOID:12700]
synonym: "hyperprolactinaemia" RELATED EXCLUDE [DOID:12700]
synonym: "hyperprolactinemia" RELATED [DOID:12700]
synonym: "pregnancy-related A-G syndrome" EXACT [DOID:12700]
xref: DOID:12700 {source="MONDO:equivalentTo"}
xref: ICD10CM:E22.1 {source="DOID:12700", source="MONDO:relatedTo"}
xref: MESH:D002640 {source="DOID:12700", source="MONDO:relatedTo"}
xref: MESH:D006966 {source="DOID:12700", source="MONDO:relatedTo"}
xref: NCIT:C113168 {source="DOID:12700"}
is_a: MONDO:0006504 {source="DOID:12700"} ! acquired metabolic disease
intersection_of: MONDO:0005804 ! hyperprolactinemia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0024306
name: acquired lactic acidosis
def: "An instance of lactic acidosis that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired lactic acidosis" EXACT [MONDO:patterns/acquired]
synonym: "lactic acidosis" RELATED [DOID:3650]
xref: DOID:3650 {source="EFO:1000036", source="MONDO:equivalentTo"}
xref: ICD10CM:E87.2 {source="DOID:3650"}
xref: MESH:D000140 {source="DOID:3650", source="MONDO:relatedTo"}
xref: NCIT:C98969 {source="DOID:3650"}
xref: SCTID:91273001 {source="DOID:3650", source="MONDO:relatedTo"}
is_a: MONDO:0006504 {source="DOID:3650", source="DOID:3650/inferred", source="MONDO:Redundant"} ! acquired metabolic disease
intersection_of: MONDO:0006040 ! lactic acidosis
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0024307
name: prothrombin deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:1651913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4722227 {source="MEDGEN:1651913", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002243 {source="https://orcid.org/0000-0002-6601-2165"} ! hemorrhagic disease

[Term]
id: MONDO:0024308
name: pseudoxanthoma elasticum (inherited or acquired)
def: "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract." [GARD:0009643]
subset: otar {source="MONDO:OTAR"}
synonym: "pseudoxanthoma elasticum" EXACT []
synonym: "PXE" EXACT ABBREVIATION [GARD:0009643]
xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:18733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200643 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:252246005 {source="MONDO:equivalentTo"}
xref: UMLS:C0033847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18733"}
is_a: MONDO:0002051 ! integumentary system disorder
relationship: disease_has_location GO:0071953 ! elastic fiber
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum" xsd:anyURI {source="GARD:0009643"}

[Term]
id: MONDO:0024309
name: neuropathy, hereditary sensory and autonomic, type 2A
def: "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13" [DOID:0070155]
comment: Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15129", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acroosteolysis, Giaccai type" RELATED [OMIM:201300]
synonym: "acroosteolysis, neurogenic" RELATED [OMIM:201300]
synonym: "hereditary sensory and autonomic neuropathy type 2A" RELATED [DOID:0070155]
synonym: "hereditary sensory and autonomic neuropathy type IIA" EXACT [DOID:0070155]
synonym: "HSAN 2A" EXACT [OMIM:201300]
synonym: "HSAN2A" EXACT ABBREVIATION [DOID:0070155, OMIM:201300]
synonym: "HSN 2A" EXACT [OMIM:201300]
synonym: "Morvan disease" RELATED DUBIOUS [OMIM:201300, PMID:13235976]
synonym: "neuropathy, congenital sensory" RELATED [OMIM:201300]
synonym: "neuropathy, hereditary sensory and autonomic, type II" EXACT [OMIM:201300, OMIM:genemap2]
synonym: "neuropathy, hereditary sensory and autonomic, type IIA" EXACT [OMIM:201300]
synonym: "neuropathy, hereditary sensory radicular, autosomal recessive" RELATED [OMIM:201300]
synonym: "neuropathy, hereditary sensory, type 2A" EXACT [OMIM:201300]
synonym: "neuropathy, progressive sensory, of children" RELATED [OMIM:201300]
xref: DOID:0070155 {source="MONDO:equivalentTo"}
xref: GARD:15129 {source="MONDO:GARD"}
xref: MEDGEN:416701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:201300 {source="DOID:0070155", source="MONDO:equivalentTo"}
xref: Orphanet:970 {source="OMIM:201300"}
xref: UMLS:C2752089 {source="MEDGEN:416701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019941 {source="DOID:0070155", source="Orphanet:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2
relationship: disease_shares_features_of MONDO:0008718 {source="PMID:13235976"} ! Morvan syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024310
name: angiodysplasia of stomach
def: "A angiodysplasia that involves the stomach." [MONDO:patterns/location]
synonym: "gastric angiodysplasia" RELATED []
synonym: "gastric vascular dysplasia" RELATED []
synonym: "stomach angiodysplasia" EXACT [MONDO:patterns/location]
xref: MEDGEN:677051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:424802006 {source="MONDO:equivalentTo"}
xref: UMLS:C0744273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:677051"}
intersection_of: MONDO:0002322 ! angiodysplasia
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0024311
name: cancer affecting bone of limb skeleton
def: "A cancer that involves the limb bone." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of limb bone" EXACT [MONDO:patterns/cancer]
synonym: "limb bone cancer" EXACT [MONDO:patterns/location]
synonym: "malignant limb bone neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of limb bone" EXACT [MONDO:patterns/cancer]
xref: ICD10CM:C40 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0494152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843503"}
is_a: MONDO:0002129 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! bone cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002428 ! limb bone

[Term]
id: MONDO:0024312
name: cancer of short bone of upper limb
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: ICD10CM:C40.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:726937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1306142 {source="MEDGEN:726937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024311 {source="ICD10CM:C40.1"} ! cancer affecting bone of limb skeleton
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0002102 ! forelimb
intersection_of: disease_has_location UBERON:0013630 ! short bone

[Term]
id: MONDO:0024313
name: staphylococcal infection
def: "An infection caused by Staphylococcus." [NCIT:C35038]
subset: otar {source="MONDO:OTAR"}
synonym: "staphylococcal infection" EXACT [NCIT:C35038]
xref: EFO:1001849 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:52483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013203 {source="MONDO:equivalentTo"}
xref: NCIT:C35038 {source="MONDO:equivalentTo"}
xref: SCTID:56038003 {source="MONDO:equivalentTo"}
xref: UMLS:C0038160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52483"}
is_a: MONDO:0005113 {source="MESH:D013203/inferred", source="MONDO:Redundant", source="NCIT:C35038"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1279 ! Staphylococcus

[Term]
id: MONDO:0024314
name: parasitemia
def: "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)" [MESH:D018512]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Parasitemias" RELATED [MESH:D018512]
xref: MEDGEN:116650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018512 {source="MONDO:equivalentTo"}
xref: UMLS:C0242723 {source="MEDGEN:116650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005135 {source="MESH:D018512"} ! parasitic infectious disease
relationship: disease_has_feature HP:0100806 ! Sepsis
relationship: disease_has_location UBERON:0000178 ! blood

[Term]
id: MONDO:0024315
name: parasitic endophthalmitis
def: "Infection of the epicondyles by a parasite." [NCIT:C34587]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "parasitic endophthalmitis" EXACT [NCIT:C34587]
xref: ICD9:360.13 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:4954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34587 {source="MONDO:equivalentTo"}
xref: SCTID:57100005 {source="MONDO:equivalentTo"}
xref: UMLS:C0014238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4954"}
is_a: MONDO:0005135 {source="MONDO:Redundant", source="NCIT:C34587"} ! parasitic infectious disease
is_a: MONDO:0016047 {source="MONDO:Redundant", source="NCIT:C34587"} ! endophthalmitis
intersection_of: MONDO:0005135 ! parasitic infectious disease
intersection_of: MONDO:0016047 ! endophthalmitis

[Term]
id: MONDO:0024316
name: physiological malfunction arising from mental factor
def: "A dysfunction in biological function that is due to a psychological process." [NCIT:C35186]
synonym: "physiological malfunction arising from mental Factor" EXACT [NCIT:C35186]
xref: MEDGEN:102310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35186 {source="MONDO:equivalentTo"}
xref: UMLS:C0154548 {source="MEDGEN:102310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003117 {source="NCIT:C35186"} ! somatoform disorder

[Term]
id: MONDO:0024317
name: chronic pain syndrome
def: "Chronic form of disorder involving pain." [MONDO:patterns/chronic]
synonym: "chronic disorder involving pain" EXACT []
synonym: "chronic pain disease" EXACT []
synonym: "disorder involving pain, chronic" EXACT [MONDO:patterns/chronic]
xref: ICD10CM:G89.4 {source="MONDO:equivalentTo"}
xref: ICD9:338.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:720585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:373621006 {source="MONDO:equivalentTo"}
xref: UMLS:C1298685 {source="MEDGEN:720585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700057 ! neurological pain disorder
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0024318
name: viral infection of central nervous system
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system viral infection" RELATED []
synonym: "viral disease of central nervous system" RELATED []
synonym: "viral infection of central nervous system" EXACT []
xref: ICD10CM:A80-A89 {source="MONDO:mondoIsNarrowerThanSource"}
xref: ICD10WHO:A80-A89 {source="MONDO:equivalentTo"}
xref: MEDGEN:91141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020805 {source="MONDO:equivalentTo"}
xref: SCTID:302810003 {source="MONDO:equivalentTo"}
xref: UMLS:C0348165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91141"}
is_a: MONDO:0005550 {source="ICD10CM:A80-A89", source="MONDO:Redundant"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0024320
name: inner ear neoplasm
def: "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma." [NCIT:C39784]
synonym: "inner Ear neoplasm" EXACT [NCIT:C39784]
synonym: "internal Ear neoplasm" EXACT [NCIT:C39784]
synonym: "internal ear neoplasm" EXACT []
synonym: "internal ear neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "internal ear tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "internal ear tumour" EXACT OMO:0003005 []
synonym: "neoplasm of internal ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of internal ear" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of internal ear" EXACT OMO:0003005 []
xref: MEDGEN:268582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39784 {source="MONDO:equivalentTo"}
xref: UMLS:C1512779 {source="MEDGEN:268582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002467 {source="MONDO:Redundant", source="NCIT:C39784"} ! inner ear disorder
is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C39784"} ! ear neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001846 ! internal ear

[Term]
id: MONDO:0024321
name: disorder of GPI anchor biosynthesis
def: "A disease that has its basis in the disruption of GPI anchor biosynthetic process." [MONDO:patterns/basis_in_disruption_of_process]
comment: May be inborn or somatic. Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "disorder of GPI anchor biosynthetic process" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "glycosylphosphatidylinositol biosynthesis defect" EXACT []
synonym: "GPI anchor biosynthetic process disease" EXACT []
synonym: "GPIBD" EXACT ABBREVIATION []
is_a: MONDO:0024322 {source="https://orcid.org/0000-0002-6601-2165"} ! disorder of glycosylation
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0024322
name: disorder of glycosylation
def: "A disease that has its basis in the disruption of glycosylation." [MONDO:patterns/basis_in_disruption_of_process]
comment: May be inborn or somatic, Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "glycosylation disease" EXACT [MONDO:design_pattern]
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_basis_in_disruption_of GO:0070085 ! glycosylation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0024323
name: glomangiomyoma
def: "A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle." [NCIT:C4223]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glomangiomyoma" EXACT [NCIT:C4223]
xref: DOID:8020 {source="MONDO:equivalentTo"}
xref: ICDO:8713/0 {source="NCIT:C4223"}
xref: MEDGEN:87240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4223 {source="MONDO:equivalentTo", source="DOID:8020"}
xref: SCTID:189745002 {source="DOID:8020"}
xref: SCTID:34550005 {source="DOID:8020"}
xref: UMLS:C0334422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87240"}
is_a: MONDO:0018327 {source="NCIT:C4223"} ! glomus tumor
relationship: excluded_subClassOf MONDO:0003342 {source="DOID:8020", source="https://orcid.org/0000-0001-5208-3432"} ! benign perivascular tumor

[Term]
id: MONDO:0024325
name: cutaneous glomangiomyoma
def: "A glomangiomyoma that involves the zone of skin." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glomangiomyoma of skin" EXACT [MONDO:LexicalPattern]
synonym: "zone of skin glomangiomyoma" EXACT [MONDO:patterns/location]
xref: ICD9:227.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:698513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:403971002 {source="MONDO:equivalentTo"}
xref: UMLS:C1275227 {source="MEDGEN:698513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002295 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! skin glomus tumor
intersection_of: MONDO:0024323 ! glomangiomyoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0024326
name: pleural adenomatoid tumor
def: "A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma." [NCIT:C4499]
synonym: "benign mesothelioma of pleura" EXACT [NCIT:C4499]
synonym: "benign mesothelioma of the pleura" EXACT [NCIT:C4499]
synonym: "pleura adenomatoid tumor" EXACT [MONDO:patterns/location]
synonym: "pleura adenomatoid tumour" EXACT OMO:0003005 []
synonym: "pleural adenomatoid tumor" EXACT [NCIT:C4499]
synonym: "pleural benign mesothelioma" EXACT [NCIT:C4499]
synonym: "pleural mesothelioma, benign" EXACT [NCIT:C4499]
xref: MEDGEN:83408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4499 {source="MONDO:equivalentTo"}
xref: UMLS:C0346112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83408"}
is_a: MONDO:0002373 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! benign mesothelioma
is_a: MONDO:0003308 {source="MONDO:Redundant", source="NCIT:C4499"} ! pleural mesothelioma
is_a: MONDO:0004230 {source="MONDO:Redundant", source="NCIT:C4499"} ! adenomatoid tumor
is_a: MONDO:0021457 {source="MONDO:Redundant", source="NCIT:C4499"} ! benign neoplasm of pleura
intersection_of: MONDO:0004230 ! adenomatoid tumor
intersection_of: disease_has_location UBERON:0000977 ! pleura

[Term]
id: MONDO:0024327
name: chronic renal failure syndrome
def: "Impairment of the renal function due to chronic kidney damage." [NCIT:C9438]
synonym: "chronic kidney failure" EXACT []
synonym: "Chronic renal disease" EXACT [NCIT:C9438]
synonym: "chronic renal failure" EXACT [NCIT:C9438]
synonym: "chronic renal failure disease" EXACT [NCIT:C9438-modified]
synonym: "CRF - chronic renal failure" EXACT [NCIT:C9438]
synonym: "kidney failure, chronic" EXACT [MONDO:patterns/chronic]
xref: ICD9:585.9 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:9637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D051436 {source="MONDO:equivalentTo"}
xref: NANDO:2100023 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C9438 {source="MONDO:equivalentTo"}
xref: SCTID:90688005 {source="MONDO:equivalentTo"}
xref: UMLS:C0022661 {source="MONDO:equivalentTo", source="MEDGEN:9637", source="MONDO:MEDGEN"}
is_a: MONDO:0001106 {source="MESH:D051436", source="MONDO:Redundant", source="NCIT:C9438"} ! kidney failure
is_a: MONDO:0005300 {source="MONDO:Redundant", source="NCIT:C9438"} ! chronic kidney disease
intersection_of: MONDO:0001106 ! kidney failure
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0024330
name: infectious otitis media
def: "Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space." [NCIT:C84354]
synonym: "acute otitis Media" EXACT [NCIT:C84354]
synonym: "AOM" EXACT ABBREVIATION [NCIT:C84354]
synonym: "infectious otitis Media" EXACT [NCIT:C84354]
synonym: "middle Ear infection" EXACT [NCIT:C84354]
synonym: "otitis media" BROAD [NCIT:C84354]
xref: MEDGEN:443472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84354 {source="MONDO:equivalentTo"}
xref: UMLS:C2827407 {source="MEDGEN:443472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005441 {source="MONDO:Redundant", source="NCIT:C84354"} ! otitis media
is_a: MONDO:0021666 {source="MONDO:Redundant", source="NCIT:C84354"} ! ear infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0001756 ! middle ear

[Term]
id: MONDO:0024331
name: colorectal carcinoma
def: "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." [NCIT:C2955]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of large bowel" BROAD [NCIT:C2955]
synonym: "cancer of large intestine" BROAD [NCIT:C2955]
synonym: "cancer of the large bowel" BROAD [NCIT:C2955]
synonym: "cancer of the large intestine" BROAD [NCIT:C2955]
synonym: "carcinoma of colorectum" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of large bowel" EXACT [NCIT:C2955]
synonym: "carcinoma of large intestine" EXACT [NCIT:C2955]
synonym: "carcinoma of the large bowel" EXACT [NCIT:C2955]
synonym: "carcinoma of the large intestine" EXACT [NCIT:C2955]
synonym: "colorectal (colon or rectal) cancer" BROAD [NCIT:C2955]
synonym: "colorectal cancer" BROAD [NCIT:C2955]
synonym: "colorectal cancer, NOS" BROAD EXCLUDE [NCIT:C2955]
synonym: "colorectal carcinoma" EXACT [NCIT:C2955]
synonym: "colorectum carcinoma" EXACT [MONDO:patterns/location]
synonym: "CRC" EXACT ABBREVIATION [NCIT:C2955]
synonym: "large bowel cancer" BROAD [NCIT:C2955]
synonym: "large bowel carcinoma" EXACT [NCIT:C2955]
synonym: "large intestine cancer" BROAD [NCIT:C2955]
synonym: "large intestine carcinoma" EXACT [NCIT:C2955]
xref: DOID:0080199 {source="MONDO:equivalentTo"}
xref: EFO:1001951 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:3170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2955 {source="DOID:0080199", source="MONDO:equivalentTo"}
xref: UMLS:C0009402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3170"}
is_a: MONDO:0005575 {source="DOID:0080199", source="DOID:0080199/inferred", source="MONDO:Redundant", source="NCIT:C2955"} ! colorectal cancer
is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C2955"} ! digestive system carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0012652 ! colorectum

[Term]
id: MONDO:0024332
name: perennial allergic rhinitis
def: "Allergic rhinitis caused by indoor allergens and lasting year round." [NCIT:C92189]
subset: otar {source="MONDO:OTAR"}
synonym: "non-seasonal allergic rhinitis" EXACT [NCIT:C92189]
synonym: "nonseasonal allergic rhinitis" EXACT [NCIT:C92189-variant]
synonym: "perennial allergic rhinitis" EXACT [NCIT:C92189]
xref: EFO:1001417 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:19783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012221 {source="MONDO:equivalentTo"}
xref: NCIT:C92189 {source="MONDO:equivalentTo"}
xref: SCTID:446096008 {source="MONDO:equivalentTo"}
xref: UMLS:C0035457 {source="MEDGEN:19783", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011786 {source="NCIT:C92189"} ! allergic rhinitis

[Term]
id: MONDO:0024333
name: sciatica
def: "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina." [MESH:D012585]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "bilateral sciatica" RELATED [MESH:D012585]
synonym: "bilateral sciaticas" RELATED [MESH:D012585]
synonym: "neuralgia, sciatic" RELATED [MESH:D012585]
synonym: "neuralgias, sciatic" RELATED [MESH:D012585]
synonym: "sciatic neuralgia" RELATED [MESH:D012585]
synonym: "sciatic Neuralgias" RELATED [MESH:D012585]
synonym: "sciatica, bilateral" RELATED [MESH:D012585]
xref: ICD9:724.3 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:19893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012585 {source="MONDO:equivalentTo"}
xref: SCTID:23056005 {source="MONDO:equivalentTo"}
xref: UMLS:C0036396 {source="MEDGEN:19893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006960 {source="MESH:D012585"} ! sciatic neuropathy
is_a: MONDO:0021667 {source="MESH:D012585"} ! neuralgia

[Term]
id: MONDO:0024334
name: peripheral nerve lesion
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:1843468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1963788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843468"}
is_a: MONDO:0005244 ! peripheral neuropathy

[Term]
id: MONDO:0024335
name: retrobulbar neuritis
xref: MEDGEN:39312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:230507009 {source="MONDO:equivalentTo"}
xref: UMLS:C0085582 {source="MEDGEN:39312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005885 ! optic neuritis

[Term]
id: MONDO:0024336
name: vulvar adenocarcinoma
def: "An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma." [NCIT:C6380]
subset: gard_rare {source="GARD:22007", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:494454"}
subset: rare
synonym: "adenocarcinoma of the vulva" EXACT [DOID:2098, NCIT:C6380]
synonym: "adenocarcinoma of vulva" EXACT [DOID:2098, NCIT:C6380]
synonym: "mammalian vulva adenocarcinoma" EXACT [MONDO:patterns/location]
synonym: "vulva adenocarcinoma" EXACT [MONDO:0002208]
synonym: "vulvar adenocarcinoma" EXACT [NCIT:C6380]
xref: DOID:2098 {source="MONDO:equivalentTo"}
xref: GARD:22007 {source="MONDO:GARD"}
xref: MEDGEN:234480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6380 {source="DOID:2098", source="MONDO:equivalentTo"}
xref: Orphanet:494454 {source="MONDO:equivalentTo"}
xref: UMLS:C1336975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234480"}
is_a: MONDO:0002198 {source="MONDO:Redundant", source="NCIT:C6380"} ! vulvar glandular neoplasm
is_a: MONDO:0004970 {source="DOID:2098", source="MONDO:Redundant", source="NCIT:C6380"} ! adenocarcinoma
is_a: MONDO:0005215 {source="DOID:2098", source="MONDO:Redundant", source="NCIT:C6380", source="Orphanet:494454"} ! vulvar carcinoma
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0024337
name: urothelial neoplasm
def: "A neoplasm involving a urothelium." [MONDO:patterns/neoplasm]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of urothelium" EXACT [MONDO:patterns/neoplasm]
synonym: "transitional cell neoplasm of the urinary tract" EXACT [NCIT:C39852]
synonym: "tumor of urothelium" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of urothelium" EXACT OMO:0003005 []
synonym: "urothelial neoplasm" EXACT [NCIT:C39852]
synonym: "urothelium neoplasm" EXACT []
synonym: "urothelium neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "urothelium tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "urothelium tumour" EXACT OMO:0003005 []
xref: MEDGEN:275551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39852 {source="MONDO:equivalentTo"}
xref: UMLS:C1519840 {source="MONDO:equivalentTo", source="MEDGEN:275551", source="MONDO:MEDGEN"}
is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C39852"} ! urinary system neoplasm
is_a: MONDO:0037254 {source="NCIT:C39852"} ! transitional cell neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000365 ! urothelium
relationship: disease_arises_from_structure CL:0000731 {source="NCIT:C39852"} ! urothelial cell
relationship: disease_arises_from_structure UBERON:0000365 {source="NCIT:C39852"} ! urothelium

[Term]
id: MONDO:0024338
name: mucinous neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "mucinous neoplasm" EXACT [NCIT:C7070]
synonym: "mucinous tumor" EXACT [NCIT:C7070]
synonym: "mucinous tumour" EXACT OMO:0003005 []
xref: MEDGEN:235339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7070 {source="MONDO:equivalentTo"}
xref: UMLS:C1334811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235339"}
is_a: MONDO:0024276 {source="NCIT:C7070"} ! glandular cell neoplasm

[Term]
id: MONDO:0024339
name: lymph node neoplasm
def: "A neoplasm involving a lymph node." [MONDO:patterns/neoplasm]
subset: gard_rare {source="GARD:6932", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymph node neoplasm" EXACT [NCIT:C35497]
synonym: "lymph node neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "lymph node tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "lymph node tumour" EXACT OMO:0003005 []
synonym: "neoplasm of lymph node" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of lymph node" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of lymph node" EXACT OMO:0003005 []
xref: GARD:6932 {source="MONDO:GARD"}
xref: MEDGEN:108920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35497 {source="MONDO:equivalentTo"}
xref: UMLS:C0596869 {source="MEDGEN:108920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002334 {source="NCIT:C35497"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0004928 {source="MONDO:Redundant", source="NCIT:C35497"} ! lymph node disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000029 ! lymph node

[Term]
id: MONDO:0024340
name: retinal neuroblastoma
def: "A neuroblastoma arising from the retina." [NCIT:C6956]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neuroblastoma of retina" EXACT [NCIT:C6956]
synonym: "neuroblastoma of the retina" EXACT [NCIT:C6956]
synonym: "retina neuroblastoma" EXACT [MONDO:patterns/location]
synonym: "retinal neuroblastoma" EXACT [NCIT:C6956]
xref: MEDGEN:1830429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6956 {source="MONDO:equivalentTo"}
xref: UMLS:C5779888 {source="MEDGEN:1830429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005072 {source="MONDO:Redundant", source="NCIT:C6956"} ! neuroblastoma
intersection_of: MONDO:0005072 {source="NCIT:C6956"} ! neuroblastoma
intersection_of: disease_has_location UBERON:0000966 {source="NCIT:C6956"} ! retina

[Term]
id: MONDO:0024341
name: retinal cell neoplasm
def: "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma." []
synonym: "retinal cell neoplasm" EXACT [NCIT:C7061]
synonym: "retinal cell tumor" EXACT [NCIT:C7061]
synonym: "retinal cell tumour" EXACT OMO:0003005 []
synonym: "retinal neural cell neoplasm" EXACT [NCIT:C7061]
xref: MEDGEN:277595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7061 {source="MONDO:equivalentTo"}
xref: UMLS:C1335765 {source="MEDGEN:277595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021231 {source="NCIT:C7061"} ! retina neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure UBERON:0003902 ! retinal neural layer
relationship: disease_arises_from_structure CL:0000210 {source="NCIT:C7061"} ! photoreceptor cell
relationship: disease_arises_from_structure UBERON:0003902 {source="NCIT:C7061"} ! retinal neural layer

[Term]
id: MONDO:0024343
name: pityriasis simplex
synonym: "dandruff" RELATED []
synonym: "furfuracea" RELATED []
synonym: "pityriasis simplex" EXACT []
xref: ICD9:690.18 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:602609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:200767005 {source="MONDO:equivalentTo"}
xref: UMLS:C0423775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:602609"}
is_a: MONDO:0006547 {source="https://orcid.org/0000-0002-6601-2165"} ! exanthem
relationship: disease_has_feature HP:0001051 ! Seborrheic dermatitis

[Term]
id: MONDO:0024344
name: pityriasis folliculorum
synonym: "pityriasis folliculorum" EXACT []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:590298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:200993008 {source="MONDO:equivalentTo"}
xref: UMLS:C0406312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590298"}
is_a: MONDO:0006547 {source="https://orcid.org/0000-0002-6601-2165"} ! exanthem

[Term]
id: MONDO:0024345
name: obsolete pityriasis streptogenes
xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: SCTID:200994002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeCausingAgents"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7144" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0024346
name: pityriasis amiantacea
synonym: "pityriasis amiantacea" EXACT []
synonym: "tinea amiantacea" RELATED []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:575384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238924007 {source="MONDO:equivalentTo"}
xref: UMLS:C0343100 {source="MEDGEN:575384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006547 {source="https://orcid.org/0000-0002-6601-2165"} ! exanthem

[Term]
id: MONDO:0024348
name: obsolete pityriasis capitis
comment: Reason: out of scope.
synonym: "pityriasis capitis" EXACT []
xref: SCTID:400201008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3880" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0024349
name: pityriasis alba
def: "A prevalent and benign dermatological condition that predominantly affects children and adolescents. The name \"pityriasis alba\" derives from its appearance, where \"pityriasis\" denotes the fine scales and \"alba\" signifies the pale color (hypopigmentation)." [PMID:28613715]
xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:39322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:402296004 {source="MONDO:equivalentTo"}
xref: UMLS:C0085657 {source="MONDO:equivalentTo", source="MEDGEN:39322", source="MONDO:MEDGEN"}
is_a: MONDO:0006547 {source="https://orcid.org/0000-0002-6601-2165"} ! exanthem
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7144" xsd:anyURI

[Term]
id: MONDO:0024350
name: pityriasis steatoides
synonym: "pityriasis steatoides" EXACT []
xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:698103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:403426003 {source="MONDO:equivalentTo"}
xref: UMLS:C1274781 {source="MEDGEN:698103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006547 {source="https://orcid.org/0000-0002-6601-2165"} ! exanthem

[Term]
id: MONDO:0024351
name: obsolete familial pityriasis rubra pilaris
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3470" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008251

[Term]
id: MONDO:0024352
name: viral respiratory tract infection
def: "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus." [NCIT:C27219]
subset: otar {source="MONDO:OTAR"}
synonym: "viral respiratory tract infection" EXACT [NCIT:C27219]
xref: ICD9:519.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27219 {source="MONDO:equivalentTo"}
xref: SCTID:312133006 {source="MONDO:equivalentTo"}
xref: UMLS:C0877203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163755"}
is_a: MONDO:0005108 {source="MONDO:Redundant", source="NCIT:C27219"} ! viral infectious disease
intersection_of: MONDO:0005108 ! viral infectious disease
intersection_of: disease_has_location UBERON:0000065 ! respiratory tract

[Term]
id: MONDO:0024354
name: cytomegalovirus pneumonia
def: "Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating." [NCIT:C35360]
synonym: "CMV pneumonia" EXACT [NCIT:C35360]
synonym: "Cytomegaloviral pneumonia" EXACT [NCIT:C35360]
synonym: "Cytomegalovirus caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cytomegalovirus pneumonia" EXACT [NCIT:C35360]
synonym: "cytomegalovirus pneumonia" EXACT []
xref: MEDGEN:124443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35360 {source="MONDO:equivalentTo"}
xref: SCTID:7678002 {source="MONDO:equivalentTo"}
xref: UMLS:C0276253 {source="MEDGEN:124443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005132 {source="MONDO:Redundant", source="NCIT:C35360"} ! cytomegalovirus infection
is_a: MONDO:0005249 {source="MONDO:Redundant", source="NCIT:C35360"} ! pneumonia
is_a: MONDO:0024352 {source="MONDO:Redundant", source="NCIT:C35360"} ! viral respiratory tract infection
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0100332 NCBITaxon:10358 ! disease has primary infectious agent Cytomegalovirus

[Term]
id: MONDO:0024355
name: respiratory tract infectious disorder
def: "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." [MESH:D012141]
subset: otar {source="MONDO:OTAR"}
synonym: "infection, respiratory tract" RELATED [MESH:D012141]
synonym: "infections, respiratory" RELATED [MESH:D012141]
synonym: "infections, respiratory tract" RELATED [MESH:D012141]
synonym: "infections, upper respiratory" RELATED [MESH:D012141]
synonym: "infections, upper respiratory tract" RELATED [MESH:D012141]
synonym: "respiratory infection, upper" NARROW [MESH:D012141]
synonym: "respiratory infections" RELATED [MESH:D012141]
synonym: "respiratory tract infection" RELATED [MESH:D012141]
synonym: "upper respiratory infections" NARROW [MESH:D012141]
synonym: "upper respiratory tract infections" NARROW [MESH:D012141]
xref: ICD10CM:J00-J06 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:J30-J39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:519.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D012141 {source="MONDO:equivalentTo"}
xref: SCTID:275498002 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0000065 ! respiratory tract

[Term]
id: MONDO:0024356
name: primary central sleep apnea syndrome
synonym: "primary central sleep apnea" EXACT []
xref: ICD10CM:G47.31 {source="MONDO:equivalentTo"}
xref: ICD9:327.21 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:148385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:9741000119101 {source="MONDO:equivalentTo"}
xref: UMLS:C0751762 {source="MEDGEN:148385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="ICD10CM:G47.31", source="ICD10CM:G47.31/inferred", source="MONDO:Redundant"} ! sleep-wake disorder
is_a: MONDO:0004731 {source="https://orcid.org/0000-0001-5208-3432"} ! central sleep apnea syndrome
is_a: MONDO:0005296 {source="ICD10CM:G47.31", source="MONDO:0024356/inferred", source="MONDO:Redundant"} ! sleep apnea syndrome

[Term]
id: MONDO:0024357
name: drug induced central sleep apnea
synonym: "drug induced central sleep apnea" EXACT []
xref: MEDGEN:783188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:104831000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C3662033 {source="MEDGEN:783188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004731 ! central sleep apnea syndrome
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0024358
name: complex sleep apnea
def: "A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device." [PMID:23861580]
subset: otar {source="MONDO:OTAR"}
synonym: "complex sleep apnea" EXACT [DOID:0080302, PMID:23861580]
synonym: "CompSAS" EXACT [PMID:23861580]
synonym: "mixed sleep apnea" EXACT []
xref: DOID:0080302 {source="MONDO:equivalentTo"}
xref: MEDGEN:83271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:230493001 {source="MONDO:equivalentTo", source="DOID:0080302"}
xref: UMLS:C0338495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83271"}
is_a: MONDO:0004731 {source="MONDO:Redundant", source="PMID:23861580"} ! central sleep apnea syndrome
is_a: MONDO:0005296 {source="DOID:0080302"} ! sleep apnea syndrome
is_a: MONDO:0007147 {source="MONDO:Redundant", source="PMID:23861580"} ! obstructive sleep apnea syndrome
intersection_of: MONDO:0004731 ! central sleep apnea syndrome
intersection_of: MONDO:0007147 ! obstructive sleep apnea syndrome

[Term]
id: MONDO:0024359
name: central sleep apnea due to periodic breathing
synonym: "central sleep apnea due to periodic breathing" EXACT []
xref: ICD9:327.27 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:786.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:783212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:85721000119105 {source="MONDO:equivalentTo"}
xref: UMLS:C3662057 {source="MONDO:equivalentTo", source="MEDGEN:783212", source="MONDO:MEDGEN"}
is_a: MONDO:0004731 ! central sleep apnea syndrome
is_a: MONDO:0005087 {source="MONDO:Redundant"} ! respiratory system disorder

[Term]
id: MONDO:0024360
name: central sleep apnea caused by high altitude
synonym: "central sleep apnea caused by high altitude" EXACT []
synonym: "central sleep apnea due to high altitude" RELATED []
xref: MEDGEN:884045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:91441000119109 {source="MONDO:equivalentTo"}
xref: UMLS:C4075997 {source="MEDGEN:884045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004731 ! central sleep apnea syndrome

[Term]
id: MONDO:0024361
name: circadian rhythm sleep disorder
def: "A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)" [https://www.circadiansleepdisorders.org/defs.php]
comment: Reason: duplicate. This will be merged with MONDO:0003406 Sleep-wake disorder
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "circadian sleep disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php]
synonym: "disorders of the sleep-wake schedule" EXACT []
synonym: "sleep-wake schedule disorder" EXACT []
xref: ICD10CM:G47.2 {source="MONDO:equivalentTo"}
xref: ICD9:327.30 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D020178 {source="MONDO:equivalentTo"}
xref: NCIT:C95071 {source="MONDO:equivalentTo"}
xref: SCTID:3745000 {source="MONDO:equivalentTo"}
is_a: MONDO:0003406 {source="ICD10CM:G47.2", source="MONDO:Redundant", source="NCIT:C95071"} ! sleep-wake disorder
intersection_of: MONDO:0003406 ! sleep-wake disorder
intersection_of: disease_has_basis_in_disruption_of GO:0007623 ! circadian rhythm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7189" xsd:anyURI
property_value: IAO:0006012 "2024-04-01" xsd:string

[Term]
id: MONDO:0024363
name: rapid eye movement sleep disorder
synonym: "repeated rapid eye movement sleep interruptions" EXACT []
xref: ICD9:379.59 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:581569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:192004002 {source="MONDO:equivalentTo"}
xref: UMLS:C0393768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581569"}
is_a: MONDO:0024361 {source="MONDO:Redundant"} ! circadian rhythm sleep disorder
intersection_of: MONDO:0003406 ! sleep-wake disorder
intersection_of: disease_has_basis_in_disruption_of GO:0042747 ! circadian sleep/wake cycle, REM sleep

[Term]
id: MONDO:0024376
name: sleep disorder, initiating and maintaining sleep
synonym: "disorders of initiating and maintaining sleep" EXACT []
xref: MEDGEN:43897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:194437008 {source="MONDO:equivalentTo"}
xref: UMLS:C0021603 {source="MEDGEN:43897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 ! sleep-wake disorder

[Term]
id: MONDO:0024377
name: circadian rhythm sleep disorder, delayed sleep phase type
def: "A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle." [https://www.circadiansleepdisorders.org/defs.php#defDSPS]
synonym: "delayed sleep phase syndrome" EXACT [https://www.circadiansleepdisorders.org/defs.php#defDSPS]
synonym: "DSPD" EXACT ABBREVIATION [DOID:0111141]
synonym: "DSPS" EXACT ABBREVIATION [https://www.circadiansleepdisorders.org/defs.php#defDSPS]
synonym: "sleep wake schedule disorder, delayed phase type" EXACT []
synonym: "sleep-wake schedule disorder, delayed phase" RELATED []
synonym: "sleepwake schedule disorder, delayed phase" RELATED []
xref: DOID:0111141 {source="MONDO:equivalentTo"}
xref: ICD10CM:G47.21 {source="MONDO:equivalentTo"}
xref: MEDGEN:97962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28011000119104 {source="MONDO:equivalentObsolete"}
xref: SCTID:80623000 {source="MONDO:equivalentTo"}
xref: UMLS:C0393770 {source="MEDGEN:97962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="DOID:0111141", source="ICD10CM:G47.21", source="ICD10CM:G47.21/inferred", source="MONDO:Redundant"} ! sleep-wake disorder
is_a: MONDO:0024361 {source="ICD10CM:G47.21"} ! circadian rhythm sleep disorder

[Term]
id: MONDO:0024378
name: circadian rhythm sleep disorder, advanced sleep phase type
def: "A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal." [https://www.circadiansleepdisorders.org/defs.php#defASPS]
synonym: "advanced sleep phase syndrome" BROAD [https://www.circadiansleepdisorders.org/defs.php#defASPS]
synonym: "ASPS" BROAD ABBREVIATION [https://www.circadiansleepdisorders.org/defs.php#defASPS]
synonym: "circadian rhythm sleep disorder, advanced sleep phase" RELATED []
synonym: "circadian rhythm sleep disorder, advanced sleep phase type" EXACT []
synonym: "sleep-wake schedule disorder, advanced phase type" EXACT []
xref: ICD10CM:G47.22 {source="MONDO:equivalentTo"}
xref: ICD9:327.32 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:199728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:31537005 {source="MONDO:equivalentTo"}
xref: UMLS:C0751758 {source="MEDGEN:199728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="ICD10CM:G47.22", source="ICD10CM:G47.22/inferred", source="MONDO:Redundant"} ! sleep-wake disorder
is_a: MONDO:0024361 {source="ICD10CM:G47.22"} ! circadian rhythm sleep disorder

[Term]
id: MONDO:0024379
name: circadian rhythm sleep disorder, irregular sleep wake type
def: "A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day." [https://www.circadiansleepdisorders.org/defs.php#defISWD]
synonym: "irregular sleep-wake disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php#defISWD]
synonym: "irregular sleep-wake pattern" EXACT []
synonym: "ISWD" EXACT ABBREVIATION [https://www.circadiansleepdisorders.org/defs.php#defISWD]
xref: ICD10CM:G47.23 {source="MONDO:equivalentTo"}
xref: ICD9:327.33 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:581571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:271793004 {source="MONDO:equivalentTo"}
xref: UMLS:C0393771 {source="MONDO:equivalentTo", source="MEDGEN:581571", source="MONDO:MEDGEN"}
is_a: MONDO:0003406 {source="ICD10CM:G47.23", source="ICD10CM:G47.23/inferred", source="MONDO:Redundant"} ! sleep-wake disorder
is_a: MONDO:0024361 {source="ICD10CM:G47.23"} ! circadian rhythm sleep disorder

[Term]
id: MONDO:0024381
name: circadian rhythm sleep disorder, jet lag type
def: "A circadian sleep disorder that results from traveling across time zones." [https://www.circadiansleepdisorders.org/defs.php#defJetLag]
synonym: "jet lag" EXACT [https://www.circadiansleepdisorders.org/defs.php#defJetLag]
xref: ICD10CM:G47.25 {source="MONDO:equivalentTo"}
xref: MEDGEN:115901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0231311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:115901"}
is_a: MONDO:0003406 {source="ICD10CM:G47.25", source="ICD10CM:G47.25/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! sleep-wake disorder
is_a: MONDO:0024361 {source="ICD10CM:G47.25"} ! circadian rhythm sleep disorder

[Term]
id: MONDO:0024382
name: circadian rhythm sleep disorder, shift work type
def: "A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors." [https://www.circadiansleepdisorders.org/defs.php#defSWD]
synonym: "circadian rhythm sleep disorder of shift work type" EXACT []
synonym: "shift work disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php#SWD]
xref: ICD10CM:G47.26 {source="MONDO:equivalentTo"}
xref: MEDGEN:890433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:713498009 {source="MONDO:equivalentTo"}
xref: UMLS:C4076097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:890433"}
is_a: MONDO:0003406 {source="ICD10CM:G47.26", source="ICD10CM:G47.26/inferred", source="MONDO:Redundant"} ! sleep-wake disorder
is_a: MONDO:0024361 {source="ICD10CM:G47.26"} ! circadian rhythm sleep disorder

[Term]
id: MONDO:0024385
name: obsolete arenavirus infectious disease
is_obsolete: true
replaced_by: MONDO:0005650

[Term]
id: MONDO:0024386
name: large cell lung carcinoma, clear cell variant
def: "A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen." [NCIT:C4451]
synonym: "clear cell carcinoma of lung, large cell type" EXACT [NCIT:C4451]
synonym: "clear cell carcinoma of the lung" RELATED [ONCOTREE:CCLC]
synonym: "clear cell carcinoma of the lung, large cell type" EXACT [NCIT:C4451]
synonym: "clear cell lung carcinoma, large cell type" EXACT [NCIT:C4451]
synonym: "large cell lung carcinoma, clear cell variant" EXACT [NCIT:C4451]
xref: MEDGEN:317518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4451 {source="MONDO:equivalentTo"}
xref: ONCOTREE:CCLC {source="MONDO:equivalentTo"}
xref: UMLS:C1707407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:317518"}
is_a: MONDO:0003050 {source="NCIT:C4451", source="ONCOTREE:CCLC"} ! lung large cell carcinoma

[Term]
id: MONDO:0024387
name: benign ovarian sex cord-stromal tumor
def: "A sex cord-stromal tumor arising from the ovary, without metastatic potential." [NCIT:C6803]
subset: otar {source="MONDO:OTAR"}
synonym: "benign ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C6803]
synonym: "benign ovarian Sex cord-stromal tumor" EXACT [NCIT:C6803]
synonym: "benign ovarian Sex cord-stromal tumour" EXACT OMO:0003005 []
synonym: "benign Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C6803]
synonym: "benign Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C6803]
synonym: "benign Sex cord-stromal tumor of ovary" EXACT [NCIT:C6803]
synonym: "benign Sex cord-stromal tumor of the ovary" EXACT [NCIT:C6803]
synonym: "benign Sex cord-stromal tumour of ovary" EXACT OMO:0003005 []
synonym: "benign Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 []
synonym: "ovarian SEX cord-stromal tumor, benign" EXACT [NCIT:C6803]
synonym: "ovarian sex cord-stromal tumor, benign" EXACT [MONDO:patterns/benign]
synonym: "Sex cord stromal tumor, benign" EXACT [NCIT:C6803]
xref: DOID:0080370 {source="MONDO:equivalentTo"}
xref: MEDGEN:231435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6803 {source="MONDO:equivalentTo"}
xref: UMLS:C1332528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231435"}
is_a: MONDO:0000646 {source="MONDO:Redundant", source="NCIT:C6803"} ! ovarian benign neoplasm
is_a: MONDO:0021657 {source="MONDO:Redundant", source="NCIT:C6803"} ! ovarian sex cord-stromal tumor
intersection_of: MONDO:0021657 ! ovarian sex cord-stromal tumor
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0024388
name: Clostridium infectious disease
def: "Infections with bacteria of the genus clostridium." [MESH:D003015]
subset: otar {source="MONDO:OTAR"}
synonym: "Clostridium infection" RELATED [MESH:D003015]
synonym: "commensal Clostridium infection" RELATED []
synonym: "commensal infection, Clostridium" RELATED []
synonym: "commensal infections, Clostridium" RELATED []
synonym: "infection, Clostridium" RELATED [MESH:D003015]
synonym: "infections, Clostridium" RELATED [MESH:D003015]
xref: DOID:3584 {source="EFO:1000874", source="MONDO:obsolete"}
xref: EFO:1000874 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:040.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D003015 {source="MONDO:equivalentTo", source="EFO:1000874"}
xref: SCTID:56688005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005113 {source="EFO:1000874", source="MESH:D003015/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0021679 {source="MESH:D003015"} ! gram-positive bacterial infections
is_a: MONDO:0024389 ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1485 ! Clostridium

[Term]
id: MONDO:0024389
name: anaerobic bacteria infectious disease
comment: Editor note: DP
subset: otar {source="MONDO:OTAR"}
synonym: "anaerobic bacterial infection" EXACT []
synonym: "infection caused by anaerobic bacteria" EXACT []
synonym: "infection due to anaerobic bacteria" EXACT []
xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:678527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:423451008 {source="MONDO:equivalentTo"}
xref: UMLS:C0854328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:678527"}
is_a: MONDO:0005113 ! bacterial infectious disease

[Term]
id: MONDO:0024390
name: obsolete actinomycotic infectious disease
is_obsolete: true
replaced_by: MONDO:0006921

[Term]
id: MONDO:0024392
name: anaerobic balanitis
synonym: "anaerobic balanitis" EXACT []
xref: MEDGEN:588642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:236746000 {source="MONDO:equivalentTo"}
xref: UMLS:C0403764 {source="MEDGEN:588642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024389 {source="MONDO:Redundant"} ! anaerobic bacteria infectious disease
intersection_of: MONDO:0006672 ! balanitis
intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease

[Term]
id: MONDO:0024404
name: obsolete meningitis caused by anaerobic bacteria
is_obsolete: true
replaced_by: MONDO:0002000

[Term]
id: MONDO:0024410
name: infection caused by Bifidobacterium
def: "A disease caused by infection with Bifidobacterium." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Bifidobacterium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bifidobacterium disease or disorder" EXACT []
synonym: "Bifidobacterium infection" RELATED []
synonym: "Bifidobacterium infectious disease" EXACT []
synonym: "infection caused by Bifidobacterium" EXACT []
xref: MEDGEN:923145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:721759009 {source="MONDO:equivalentTo"}
xref: UMLS:C1096283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:923145"}
is_a: MONDO:0021679 ! gram-positive bacterial infections
is_a: MONDO:0024389 ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1678 ! Bifidobacterium

[Term]
id: MONDO:0024412
name: Peptostreptococcus infectious disease
def: "A disease caused by infection with Peptostreptococcus." [MONDO:patterns/infectious_disease_by_agent]
synonym: "Peptostreptococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Peptostreptococcus disease or disorder" EXACT []
synonym: "Peptostreptococcus infection" EXACT []
xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:842384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:135341000119101 {source="MONDO:equivalentTo"}
xref: UMLS:C1096562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:842384"}
is_a: MONDO:0024389 ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1257 ! Peptostreptococcus

[Term]
id: MONDO:0024414
name: anaerobic cellulitis
synonym: "anaerobic cellulitis" EXACT []
xref: ICD9:041.84 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:682.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:537100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238401006 {source="MONDO:equivalentTo"}
xref: UMLS:C0241828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:537100"}
is_a: MONDO:0024389 {source="MONDO:Redundant"} ! anaerobic bacteria infectious disease
intersection_of: MONDO:0005230 ! cellulitis
intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease

[Term]
id: MONDO:0024415
name: hemorrhagic duodenitis
synonym: "erosive duodenitis" RELATED []
synonym: "hemorrhagic duodenitis" EXACT []
synonym: "multiple duodenal erosions" RELATED []
xref: ICD9:535.61 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:137951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95531001 {source="MONDO:equivalentTo"}
xref: UMLS:C0341245 {source="MEDGEN:137951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004627 ! duodenitis
intersection_of: disease_has_feature HP:0002239 ! Gastrointestinal hemorrhage

[Term]
id: MONDO:0024416
name: Neorickettsia infectious disease
def: "A disease caused by infection with Neorickettsia." [MONDO:patterns/infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Neorickettsia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Neorickettsia disease or disorder" EXACT []
synonym: "neorickettsiosis" EXACT []
xref: MEDGEN:547099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:78355003 {source="MONDO:equivalentTo"}
xref: UMLS:C0276121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547099"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:33993 ! Neorickettsia

[Term]
id: MONDO:0024417
name: perceptual disorders
def: "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." [MESH:D010468]
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:45392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010468 {source="MONDO:equivalentTo"}
xref: UMLS:C0030975 {source="MEDGEN:45392", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_disrupts GO:0007600 ! sensory perception
relationship: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0024418
name: muscular fibrosis multifocal obstructed vessels
comment: Editor note: not in ORDO as of Apr 29 2018; Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:3857", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:3857 {source="MONDO:GARD"}
xref: Orphanet:2033 {source="MONDO:equivalentObsolete", source="GARD:0003857"}
is_a: MONDO:0002254 ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0024419
name: enthesitis
def: "Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone." [NCIT:C114470]
subset: otar {source="MONDO:OTAR"}
synonym: "enthesis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "enthesitis" EXACT [NCIT:C114470]
synonym: "inflammation of enthesis" EXACT []
synonym: "inflammatory enthesopathy" EXACT []
xref: MEDGEN:451081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114470 {source="MONDO:equivalentTo"}
xref: SCTID:359643005 {source="MONDO:equivalentTo"}
xref: UMLS:C1282952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:451081"}
is_a: MONDO:0002183 {source="MONDO:Redundant"} ! enthesopathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0035845 ! enthesis

[Term]
id: MONDO:0024421
name: short stature contractures hypotonia
comment: Editor note: disappeared from Orphanet?
synonym: "Hennekam Koss de Geest syndrome" RELATED [GARD:0004839]
xref: Orphanet:2858 {source="GARD:0004839"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0024422
name: auditory perceptual disorders
def: "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech." [MESH:D001308]
synonym: "acoustic perceptual disorder" NARROW [MESH:D001308]
synonym: "acoustic perceptual disorders" NARROW [MESH:D001308]
synonym: "auditory comprehension disorder" NARROW [MESH:D001308]
synonym: "auditory comprehension disorders" NARROW [MESH:D001308]
synonym: "auditory inattention" NARROW [MESH:D001308]
synonym: "auditory Inattentions" NARROW [MESH:D001308]
synonym: "auditory perceptual disorder" NARROW [MESH:D001308]
synonym: "auditory processing disorder" NARROW [MESH:D001308]
synonym: "auditory processing disorders" NARROW [MESH:D001308]
synonym: "comprehension disorder, auditory" NARROW [MESH:D001308]
synonym: "comprehension disorders, auditory" NARROW [MESH:D001308]
synonym: "disorder of sensory perception of sound" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder, acoustic perceptual" NARROW [MESH:D001308]
synonym: "disorder, auditory comprehension" NARROW [MESH:D001308]
synonym: "disorder, auditory processing" NARROW [MESH:D001308]
synonym: "disorder, Psychoacoustical" NARROW [MESH:D001308]
synonym: "disorders, acoustic perceptual" NARROW [MESH:D001308]
synonym: "disorders, auditory comprehension" NARROW [MESH:D001308]
synonym: "disorders, auditory processing" NARROW [MESH:D001308]
synonym: "disorders, Psychoacoustical" NARROW [MESH:D001308]
synonym: "inattention, auditory" NARROW [MESH:D001308]
synonym: "Inattentions, auditory" NARROW [MESH:D001308]
synonym: "perceptual disorder, acoustic" NARROW [MESH:D001308]
synonym: "perceptual disorder, auditory" NARROW [MESH:D001308]
synonym: "perceptual disorders, acoustic" NARROW [MESH:D001308]
synonym: "perceptual disorders, auditory" NARROW [MESH:D001308]
synonym: "processing disorder, auditory" NARROW [MESH:D001308]
synonym: "processing disorders, auditory" NARROW [MESH:D001308]
synonym: "Psychoacoustical disorder" NARROW [MESH:D001308]
synonym: "Psychoacoustical disorders" NARROW [MESH:D001308]
synonym: "sensory perception of sound disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:155527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001308 {source="MONDO:equivalentTo"}
xref: NCIT:C84575 {source="MONDO:equivalentTo"}
xref: SCTID:229752008 {source="MONDO:equivalentTo"}
xref: UMLS:C0751257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155527"}
is_a: MONDO:0024417 {source="MESH:D001308", source="MONDO:Redundant", source="MONDO:indirect"} ! perceptual disorders
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0007605 ! sensory perception of sound

[Term]
id: MONDO:0024429
name: Alice in Wonderland syndrome
def: "A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities." [Wikipedia:Alice_in_Wonderland_syndrome]
xref: MEDGEN:473310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D062026 {source="MONDO:equivalentTo"}
xref: NCIT:C116362 {source="MONDO:equivalentTo"}
xref: UMLS:C0854348 {source="MEDGEN:473310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="PMID:27347442"} ! psychiatric disorder
is_a: MONDO:0002254 {source="NCIT:C116362"} ! syndromic disease
is_a: MONDO:0021084 {source="MESH:D062026"} ! vision disorder
is_a: MONDO:0024417 {source="MESH:D062026", source="MONDO:Redundant", source="MONDO:indirect"} ! perceptual disorders
relationship: disease_has_feature HP:0002076 {source="Wikipedia:Alice_in_Wonderland_syndrome"} ! Migraine

[Term]
id: MONDO:0024430
name: allesthesia
def: "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus." [MESH:D066190]
synonym: "Allachesthesia" RELATED [MESH:D066190]
synonym: "Allachesthesias" RELATED [MESH:D066190]
synonym: "Allesthesias" RELATED [MESH:D066190]
synonym: "allochiria" RELATED DEPRECATED [MESH:D066190, Wikipedia:Allochiria#Alloesthesia]
synonym: "Alloesthesia" RELATED [MESH:D066190]
synonym: "Alloesthesias" RELATED [MESH:D066190]
synonym: "dyschiria" RELATED [MESH:D066190]
synonym: "Dyschirias" RELATED [MESH:D066190]
synonym: "false allochiria" RELATED [Wikipedia:Allochiria#Alloesthesia]
xref: MEDGEN:827104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D066190 {source="MONDO:equivalentTo"}
xref: UMLS:C3850010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:827104"}
is_a: MONDO:0024417 {source="MESH:D066190"} ! perceptual disorders

[Term]
id: MONDO:0024431
name: bilirubin metabolism disease
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of bilirubin metabolism" EXACT []
xref: MEDGEN:541273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:80006005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268305 {source="MEDGEN:541273", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 ! metabolic disease
relationship: disease_disrupts GO:0015723 ! bilirubin transport

[Term]
id: MONDO:0024432
name: nerve plexus disorder
def: "A disease that involves the nerve plexus." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease of nerve plexus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nerve plexus" EXACT []
synonym: "disorder of nerve plexus" EXACT [MONDO:patterns/location_top]
synonym: "nerve plexus disease" EXACT [MONDO:patterns/location]
synonym: "nerve plexus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nerve plexus disorder" EXACT []
synonym: "plexopathy" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:3688 {source="MONDO:equivalentTo"}
xref: EFO:0009559 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:543047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27744 {source="MONDO:equivalentTo", source="DOID:3688"}
xref: SCTID:2231001 {source="MONDO:equivalentTo"}
xref: UMLS:C0270891 {source="MEDGEN:543047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005244 ! peripheral neuropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001810 ! nerve plexus
relationship: excluded_subClassOf MONDO:0005559 {source="DOID:3688", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
relationship: excluded_subClassOf MONDO:0024236 {source="NCIT:C27744", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete degenerative disorder

[Term]
id: MONDO:0024454
name: sacral nerve plexus disorder
def: "A disease that involves the sacral nerve plexus." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disease of sacral nerve plexus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of sacral nerve plexus" EXACT []
synonym: "disorder of sacral nerve plexus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "sacral nerve plexus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "sacral nerve plexus disorder" EXACT []
synonym: "sacral plexopathy" EXACT []
xref: MEDGEN:419804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537224 {source="MONDO:equivalentTo"}
xref: UMLS:C2931445 {source="MEDGEN:419804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003620 {source="MESH:C537224", source="MONDO:Redundant", source="MONDO:indirect"} ! peripheral nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0034986 ! sacral nerve plexus

[Term]
id: MONDO:0024455
name: autosomal dominant Robinow syndrome 1
def: "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:2013", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acral dysostosis with Facial and genital abnormalities" RELATED [OMIM:180700]
synonym: "autosomal dominant Robinow syndrome caused by mutation in WNT5A" EXACT [MONDO:design_pattern]
synonym: "DRS1" EXACT ABBREVIATION [OMIM:180700]
synonym: "dysostosis acral with facial and genital abnormalities" EXACT [MONDO:0023031]
synonym: "fetal face syndrome" RELATED [OMIM:180700]
synonym: "foetal face syndrome" RELATED OMO:0003005 []
synonym: "Robinow dwarfism" RELATED [OMIM:180700]
synonym: "Robinow syndrome, autosomal dominant 1" EXACT [OMIM:180700]
synonym: "WNT5A autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0060766 {source="MONDO:equivalentTo"}
xref: GARD:2013 {source="MONDO:GARD"}
xref: MEDGEN:1641736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:180700 {source="MONDO:equivalentTo"}
xref: Orphanet:3107 {source="OMIM:180700"}
xref: Orphanet:97360 {source="OMIM:180700"}
xref: UMLS:C4551475 {source="MEDGEN:1641736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0008389 {source="MONDO:Redundant", source="Orphanet:3107"} ! autosomal dominant Robinow syndrome
is_a: MONDO:0019978 {source="DOID:0060766", source="MONDO:Redundant", source="OMIM:180700"} ! Robinow syndrome
intersection_of: MONDO:0008389 ! autosomal dominant Robinow syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12784 ! WNT5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12784 {source="MONDO:mim2gene_medgen"} ! WNT5A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3711" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2013/dysostosis-acral-with-facial-and-genital-abnormalities" xsd:anyURI {source="GARD:0002013"}

[Term]
id: MONDO:0024456
name: anterior segment dysgenesis 3
def: "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)" [http://disorders.eyes.arizona.edu/disorders/iridogoniodysgenesis-type-1]
comment: Editor note: check GARD re 2482
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anterior segment dysgenesis 3" EXACT [MESH:C535535, OMIM:601631]
synonym: "anterior segment dysgenesis 3, multiple subtypes" EXACT [OMIM:601631, OMIM:genemap2]
synonym: "ASGD3" EXACT ABBREVIATION [MESH:C535535, OMIM:601631]
synonym: "FOXC1 iridogoniodysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "glaucoma iridogoniodysgenesia" RELATED [GARD:0002482]
synonym: "glaucoma iridogoniodysplasia, familial" RELATED [MESH:C535535, OMIM:601631]
synonym: "IGDA" EXACT ABBREVIATION [MESH:C535535]
synonym: "IGDA syndrome" EXACT [GARD:0002978]
synonym: "IRID1" EXACT ABBREVIATION [MESH:C535535, MONDO:Lexical, OMIM:601631]
synonym: "iridogoniodysgenesis anomaly, autosomal dominant" EXACT [MESH:C535535, OMIM:601631]
synonym: "iridogoniodysgenesis caused by mutation in FOXC1" EXACT [MONDO:design_pattern]
synonym: "iridogoniodysgenesis type 1" EXACT [GARD:0002978]
synonym: "iridogoniodysgenesis, type 1" EXACT [MESH:C535535, MONDO:Lexical, OMIM:601631]
synonym: "iris hypoplasia with glaucoma" RELATED [MESH:C535535, OMIM:601631]
xref: DOID:0080608 {source="MONDO:equivalentTo"}
xref: GARD:2978 {source="MONDO:GARD"}
xref: MEDGEN:355748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535535 {source="MONDO:equivalentTo"}
xref: OMIM:601631 {source="MONDO:equivalentTo"}
xref: Orphanet:91483 {source="MONDO:relatedTo", source="OMIM:601631"}
xref: Orphanet:98978 {source="MONDO:relatedTo", source="OMIM:601631"}
xref: UMLS:C1866560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355748"}
is_a: MONDO:0002289 {source="MESH:C535535"} ! iris disorder
is_a: MONDO:0005041 {source="MESH:C535535", source="MONDO:Redundant", source="MONDO:indirect"} ! glaucoma
is_a: MONDO:0019503 {source="OMIM:601631"} ! anterior segment dysgenesis
is_a: MONDO:0100235 {source="https://clinicalgenome.org/affiliation/40077/"} ! FOXC1-related anterior segment dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3800 {source="MONDO:mim2gene_medgen"} ! FOXC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5789" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia" xsd:anyURI {source="GARD:0002482"}

[Term]
id: MONDO:0024457
name: neurodegeneration with brain iron accumulation 2A
comment: AR PLA2G6
subset: gard_rare {source="GARD:3957", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:35069"}
subset: orphanet_rare {source="Orphanet:35069"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Hunter Carpenter Macdonald syndrome" RELATED [GARD:0002751]
synonym: "Hunter-Carpenter-McDonald syndrome" RELATED DEPRECATED [Orphanet:2174]
synonym: "inaD" EXACT [OMIM:256600, Orphanet:35069]
synonym: "INAD1" RELATED ABBREVIATION [OMIM:256600, Orphanet:35069]
synonym: "infantile neuroaxonal dystrophy" EXACT [Orphanet:35069]
synonym: "infantile neuroaxonal dystrophy 1" EXACT [DOID:0110735]
synonym: "infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy" RELATED [GARD:0003957]
synonym: "KARAK syndrome, included" RELATED [GARD:0003957]
synonym: "NBIA2A" EXACT ABBREVIATION [DOID:0110735, OMIM:256600]
synonym: "neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene" RELATED [GARD:0002751]
synonym: "neuroaxonal dystrophy, infantile" RELATED [OMIM:256600]
synonym: "neurodegeneration with brain iron accumulation 2A" EXACT [MONDO:Lexical, OMIM:256600]
synonym: "neurodegeneration with brain iron accumulation type 2A" EXACT [MONDORULE:4, OMIM:256600]
synonym: "neurodegeneration with brain iron accumulation type 2a" EXACT [DOID:0110735, MONDORULE:4]
synonym: "neurodegeneration, PLA2G6-associated" EXACT [OMIM:256600]
synonym: "neurodegeneration, Pla2G6-associated" EXACT [OMIM:256600]
synonym: "neurodegeneration, Pla2g6-associated" EXACT [DOID:0110735]
synonym: "phospholipase A2-associated neurodegeneration" EXACT [Orphanet:35069]
synonym: "PLAN" EXACT ABBREVIATION [Orphanet:35069]
synonym: "Seitelberger disease" BROAD DEPRECATED [DOID:0110735, OMIM:256600, Orphanet:35069]
xref: DOID:0110735 {source="MONDO:equivalentTo"}
xref: GARD:3957 {source="MONDO:GARD"}
xref: ICD10CM:G23.0 {source="Orphanet:35069/attributed", source="Orphanet:35069/ntbt", source="Orphanet:35069"}
xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:82852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536071 {source="MONDO:equivalentTo"}
xref: NANDO:1200537 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84927 {source="MONDO:equivalentTo"}
xref: OMIM:256600 {source="GARD:0002751", source="DOID:0110735", source="MONDO:equivalentTo", source="Orphanet:35069"}
xref: Orphanet:2174 {source="MONDO:obsolete"}
xref: Orphanet:35069 {source="MONDO:equivalentTo", source="OMIM:256600"}
xref: SCTID:52713000 {source="MONDO:equivalentTo"}
xref: UMLS:C0270724 {source="MEDGEN:82852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002283 {source="MESH:C536071", source="MONDO:Redundant", source="OMIM:256600/inferred"} ! neuroaxonal dystrophy
is_a: MONDO:0017998 {source="Orphanet:35069"} ! PLA2G6-associated neurodegeneration
is_a: MONDO:0018307 {source="DOID:0110735", source="MONDO:MEDIC", source="MONDO:Redundant", source="OMIM:256600", source="Orphanet:35069"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0020127 {source="Orphanet:35069"} ! hereditary peripheral neuropathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 {source="MONDO:mim2gene_medgen"} ! PLA2G6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome" xsd:anyURI {source="GARD:0002751"}

[Term]
id: MONDO:0024458
name: disorder of visual system
def: "A disease that involves the visual system." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "disease of visual system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of visual system" EXACT []
synonym: "disorder of visual system" EXACT [MONDO:patterns/location_top]
synonym: "visual system disease" EXACT [MONDO:patterns/location]
synonym: "visual system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "visual system disorder" EXACT []
xref: SCTID:128127008 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0002104 ! visual system

[Term]
id: MONDO:0024459
name: Aeromonas hydrophila intestinal disease
synonym: "intestinal infection caused by Aeromonas hydrophila" EXACT []
synonym: "intestinal infection due to Aeromonas hydrophila" EXACT []
xref: ICD9:008.47 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:755174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:446988001 {source="MONDO:equivalentTo"}
xref: UMLS:C2960005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:755174"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:644 ! Aeromonas hydrophila
intersection_of: disease_has_location UBERON:0000160 ! intestine

[Term]
id: MONDO:0024460
name: obsolete Herpesviridae infections
is_obsolete: true
replaced_by: MONDO:0005794

[Term]
id: MONDO:0024461
name: angiomatosis
def: "A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling." [NCIT:C27503]
comment: Editor note: check this
synonym: "angiomatoses" RELATED [MESH:D000798]
synonym: "angiomatosis" EXACT [NCIT:C27503]
synonym: "diffuse angiomatosis" EXACT [NCIT:C27503]
synonym: "diffuse hemangioma" EXACT [NCIT:C27503]
synonym: "multiple hemangiomas" EXACT [NCIT:C27503]
xref: MEDGEN:1931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000798 {source="MONDO:equivalentTo"}
xref: NCIT:C27503 {source="MONDO:equivalentTo"}
xref: SCTID:205562004 {source="MONDO:equivalentTo"}
xref: UMLS:C0002992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1931"}
is_a: MONDO:0005385 {source="MESH:D000798", source="NCIT:C27503/inferred"} ! vascular disorder
is_a: MONDO:0024286 {source="NCIT:C27503"} ! benign blood vessel neoplasm

[Term]
id: MONDO:0024462
name: susceptibility to familial cutaneous melanoma
def: "A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: inferred_rare
subset: rare
synonym: "hereditary cutaneous melanoma (disease)" EXACT [MONDO:patterns/hereditary]
synonym: "melanoma, cutaneous malignant" EXACT [OMIMPS:155600]
xref: MEDGEN:1388845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:155600 {source="MONDO:equivalentTo"}
xref: UMLS:C4511622 {source="MEDGEN:1388845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIMPS:155600", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:155600"} ! inherited
relationship: predisposes_towards MONDO:0005012 {source="OMIMPS:155600"} ! cutaneous melanoma

[Term]
id: MONDO:0024463
name: ovarian dysgenesis 1
subset: gard_rare {source="GARD:18039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "gonadal dysgenesis, 20 type" RELATED [OMIM:233300]
synonym: "gonadal dysgenesis, XX type" RELATED [OMIM:233300]
synonym: "ODG1" EXACT ABBREVIATION [OMIM:233300]
synonym: "ovarian dysgenesis 1" EXACT [OMIM:233300]
synonym: "ovarian dysgenesis, hypergonadotropic, autosomal recessive" RELATED [OMIM:233300]
synonym: "ovarian dysgenesis, hypergonadotropic, with normal karyotype" RELATED [OMIM:233300]
synonym: "ovarian failure, hypergonadotropic" RELATED [OMIM:233300]
synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300]
synonym: "XXGD" RELATED ABBREVIATION [OMIM:233300]
xref: DOID:0080493 {source="MONDO:equivalentTo"}
xref: GARD:18039 {source="MONDO:GARD"}
xref: MEDGEN:215397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:233300 {source="MONDO:equivalentTo"}
xref: Orphanet:243 {source="OMIM:233300"}
xref: UMLS:C0949595 {source="MEDGEN:215397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009299 {source="OMIM:233300"} ! 46 XX gonadal dysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3969 {source="MONDO:mim2gene_medgen"} ! FSHR

[Term]
id: MONDO:0024464
name: pituitary hormone deficiency, combined, 1
def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:10601", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1" EXACT [MONDO:design_pattern]
synonym: "CPHD1" EXACT ABBREVIATION [OMIM:613038]
synonym: "pituitary hormone deficiency, combined 1" RELATED [GARD:0010601]
synonym: "pituitary hormone deficiency, combined or isolated, 1" EXACT [OMIM:613038, OMIM:genemap2]
synonym: "pituitary hormone deficiency, combined, 1" EXACT [OMIM:613038]
synonym: "POU1F1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:10601 {source="MONDO:GARD"}
xref: MEDGEN:414421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567803 {source="MONDO:equivalentTo"}
xref: OMIM:613038 {source="MONDO:equivalentTo"}
xref: Orphanet:95494 {source="OMIM:613038"}
xref: UMLS:C2751608 {source="MEDGEN:414421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013099 {source="MONDO:Redundant", source="OMIM:613038"} ! combined pituitary hormone deficiencies, genetic form
intersection_of: MONDO:0013099 ! combined pituitary hormone deficiencies, genetic form
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9210 ! POU1F1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9210 {source="MONDO:mim2gene_medgen"} ! POU1F1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024465
name: surfactant metabolism dysfunction, pulmonary, 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "desquamative interstitial pneumonitis due to surfactant Protein C deficiency" EXACT [OMIM:610913]
synonym: "interstitial lung disease due to surfactant Protein C deficiency" EXACT [OMIM:610913]
synonym: "pulmonary alveolar proteinosis, congenital, 2" EXACT [OMIM:610913]
synonym: "SMDP2" EXACT ABBREVIATION [OMIM:610913]
synonym: "surfactant metabolism dysfunction, pulmonary, 2" EXACT [OMIM:610913]
xref: MEDGEN:410078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567048 {source="MONDO:equivalentTo"}
xref: OMIM:610913 {source="MONDO:equivalentTo"}
xref: Orphanet:217566 {source="OMIM:610913", source="MONDO:directSiblingOf"}
xref: Orphanet:440392 {source="OMIM:610913", source="MONDO:directSiblingOf"}
xref: UMLS:C1970470 {source="MEDGEN:410078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012580 {source="OMIM:610913"} ! hereditary pulmonary alveolar proteinosis

[Term]
id: MONDO:0024466
name: facial paresis, hereditary congenital, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [OMIM:601471]
synonym: "facial paresis, hereditary congenital, 1" EXACT [OMIM:601471]
synonym: "HCFP1" EXACT ABBREVIATION [OMIM:601471]
synonym: "Mobius syndrome 2" RELATED [OMIM:601471]
synonym: "Mobius syndrome 2, formerly" RELATED [OMIM:601471]
synonym: "Moebius syndrome 2" RELATED [OMIM:601471]
synonym: "Moebius syndrome 2, formerly" RELATED [OMIM:601471]
xref: MEDGEN:371292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601471 {source="MONDO:equivalentTo"}
xref: Orphanet:306527 {source="OMIM:601471"}
xref: UMLS:C1832284 {source="MEDGEN:371292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011090 {source="OMIM:601471"} ! isolated hereditary congenital facial paralysis

[Term]
id: MONDO:0024467
name: apocrine sweat gland disorder
def: "A disease that involves the apocrine sweat gland." [MONDO:patterns/location]
synonym: "apocrine sweat gland disease" EXACT [MONDO:patterns/location]
synonym: "apocrine sweat gland disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of apocrine sweat gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of apocrine sweat gland" EXACT []
synonym: "disorder of apocrine sweat gland" EXACT [MONDO:patterns/location_top]
xref: ICD10CM:L75 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0477516 {source="MEDGEN:1843461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000382 ! apocrine sweat gland

[Term]
id: MONDO:0024468
name: anterior pituitary gland disorder
def: "A disease that involves the adenohypophysis." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "adenohypophysis disease" EXACT [MONDO:patterns/location]
synonym: "adenohypophysis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of adenohypophysis" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of adenohypophysis" EXACT []
synonym: "disorder of adenohypophysis" EXACT [MONDO:patterns/location_top]
synonym: "disorder of anterior pituitary" EXACT []
synonym: "disorder of anterior pituitary gland" RELATED []
xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:253.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:148306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:51742006 {source="MONDO:equivalentTo"}
xref: UMLS:C0751437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148306"}
is_a: MONDO:0003381 {source="MONDO:Redundant"} ! pituitary gland disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002196 ! adenohypophysis
relationship: disease_has_feature HP:0000830 ! Anterior hypopituitarism

[Term]
id: MONDO:0024469
name: chondrogenic neoplasm
def: "A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma." [NCIT:C4755]
subset: otar {source="MONDO:OTAR"}
synonym: "cartilaginous neoplasm" EXACT [NCIT:C4755]
synonym: "cartilaginous tumor" EXACT [NCIT:C4755]
synonym: "cartilaginous tumour" EXACT OMO:0003005 []
synonym: "chondrogenic neoplasm" EXACT [NCIT:C4755]
synonym: "chondrogenic tumor" EXACT [NCIT:C4755]
synonym: "chondrogenic tumour" EXACT OMO:0003005 []
synonym: "chondromatous neoplasm" EXACT [NCIT:C4755]
synonym: "chondromatous tumor" EXACT [NCIT:C4755]
synonym: "chondromatous tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cartilage" EXACT [NCIT:C4755]
synonym: "neoplasm of the cartilage" EXACT [NCIT:C4755]
synonym: "tumor of cartilage" EXACT [NCIT:C4755]
synonym: "tumor of the cartilage" EXACT [NCIT:C4755]
synonym: "tumour of cartilage" EXACT OMO:0003005 []
synonym: "tumour of the cartilage" EXACT OMO:0003005 []
xref: MEDGEN:96904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4755 {source="MONDO:equivalentTo"}
xref: UMLS:C0476147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96904"}
is_a: MONDO:0002616 {source="NCIT:C4755"} ! mesenchymal cell neoplasm
relationship: disease_arises_from_structure CL:0000138 ! chondrocyte

[Term]
id: MONDO:0024470
name: benign chondrogenic neoplasm
def: "A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma." [NCIT:C8592]
subset: otar {source="MONDO:OTAR"}
synonym: "benign cartilaginous neoplasm" EXACT [NCIT:C8592]
synonym: "benign cartilaginous tumor" EXACT [NCIT:C8592]
synonym: "benign cartilaginous tumour" EXACT OMO:0003005 []
synonym: "benign chondrogenic neoplasm" EXACT [NCIT:C8592]
synonym: "benign chondrogenic tumor" EXACT [NCIT:C8592]
synonym: "benign chondrogenic tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of cartilage" EXACT [NCIT:C8592]
synonym: "benign neoplasm of the cartilage" EXACT [NCIT:C8592]
synonym: "benign tumor of cartilage" EXACT [NCIT:C8592]
synonym: "benign tumor of the cartilage" EXACT [NCIT:C8592]
synonym: "benign tumour of cartilage" EXACT OMO:0003005 []
synonym: "benign tumour of the cartilage" EXACT OMO:0003005 []
synonym: "chondrogenic neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: MEDGEN:208867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8592 {source="MONDO:equivalentTo"}
xref: SCTID:722690001 {source="MONDO:equivalentTo"}
xref: UMLS:C0852519 {source="MEDGEN:208867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024469 {source="MONDO:Redundant", source="NCIT:C8592"} ! chondrogenic neoplasm
intersection_of: MONDO:0024469 ! chondrogenic neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0024471
name: obsolete non-inflammatory vasculopathy
subset: ordo_group_of_disorders {source="Orphanet:496924"}
xref: GARD:22014 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:496924 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0024472
name: boutonneuse fever
def: "An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii." [PMID:18760001]
subset: gard_rare {source="GARD:19031", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:101334", source="Orphanet:83313"}
subset: ordo_etiological_subtype {source="Orphanet:101334"}
subset: orphanet_rare {source="Orphanet:101334", source="Orphanet:83313"}
subset: rare
synonym: "African tick typhus" EXACT [DOID:14095, PMID:18760001]
synonym: "boutonneuse disease" EXACT [DOID:14095, PMID:18760001]
synonym: "boutonneuse fever" EXACT [PMID:18760001]
synonym: "Conor and Bruch's disease" EXACT [DOID:14095, PMID:18760001]
synonym: "fievre boutonneuse" EXACT [PMID:18760001]
synonym: "Kenya fever" EXACT [DOID:14095, PMID:18760001]
synonym: "Kenya tick typhus" EXACT [DOID:14095, PMID:18760001]
synonym: "Kenyan tick typhus" EXACT [DOID:14095, PMID:18760001]
synonym: "marseilles fever" EXACT [DOID:14095, PMID:18760001]
synonym: "Mediterranean spotted fever" EXACT [DOID:14095, Orphanet:83313, PMID:18760001]
synonym: "Mediterranean tick fever" EXACT [DOID:14095, PMID:18760001]
synonym: "Rickettsia conorii spotted fever" BROAD [DOID:14095, PMID:18760001]
synonym: "South African tick-bite fever" EXACT [DOID:14095]
synonym: "tick typhus due to rickettsia conorii" EXACT [PMID:18760001]
xref: DOID:14095 {source="MONDO:equivalentTo", source="EFO:0007179"}
xref: GARD:19031 {source="MONDO:GARD"}
xref: ICD10CM:A77.1 {source="Orphanet:101334/ntbt", source="DOID:14095", source="Orphanet:101334", source="Orphanet:83313", source="Orphanet:83313/ntbt"}
xref: icd11.foundation:1771381430 {source="MONDO:equivalentTo", source="Orphanet:83313", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:082.1 {source="DOID:14095"}
xref: MedDRA:10006045 {source="Orphanet:83313", source="Orphanet:83313/e"}
xref: MEDGEN:14205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001907 {source="DOID:14095", source="MONDO:equivalentTo", source="Orphanet:83313", source="Orphanet:83313/e", source="EFO:0007179"}
xref: Orphanet:101334 {source="MONDO:equivalentTo"}
xref: Orphanet:83313 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:186774005 {source="DOID:14095", source="MONDO:equivalentTo"}
xref: SCTID:186778008 {source="DOID:14095"}
xref: SCTID:186779000 {source="DOID:14095"}
xref: SCTID:186780002 {source="DOID:14095"}
xref: SCTID:414658000 {source="DOID:14095"}
xref: SCTID:59742009 {source="DOID:14095"}
xref: UMLS:C0006060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14205"}
is_a: MONDO:0001195 {source="DOID:14095", source="MONDO:Redundant", source="Orphanet:101334", source="Orphanet:83313"} ! spotted fever
is_a: MONDO:0005113 {source="DOID:14095/inferred", source="EFO:0007179", source="MESH:D001907/inferred", source="MONDO:Redundant"} ! bacterial infectious disease
is_a: MONDO:0006956 {source="MESH:D001907", source="MONDO:Redundant", source="Orphanet:101334/inferred", source="Orphanet:83313/inferred"} ! Rickettsiosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:319546 ! Rickettsia conorii subsp. conorii
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4671" xsd:anyURI

[Term]
id: MONDO:0024473
name: Astrakhan spotted fever
def: "An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia." [PMID:18760001]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:0050041 {source="MONDO:equivalentTo"}
xref: MEDGEN:1814171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5574872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814171"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:302011 ! Rickettsia conorii subsp. caspia

[Term]
id: MONDO:0024474
name: intraepithelial neoplasia
def: "A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia)." [NCIT:C8366]
subset: otar {source="MONDO:OTAR"}
synonym: "epithelial dysplasia" EXACT [NCIT:C8366]
synonym: "intraepithelial neoplasia" EXACT [NCIT:C8366]
synonym: "intraepithelial neoplasm" EXACT [NCIT:C8366]
xref: MEDGEN:164203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8366 {source="MONDO:equivalentTo"}
xref: UMLS:C0878500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164203"}
is_a: MONDO:0005626 {source="NCIT:C8366"} ! epithelial neoplasm
is_a: MONDO:0021074 {source="NCIT:C8366"} ! precancerous condition

[Term]
id: MONDO:0024475
name: squamous cell intraepithelial neoplasia
subset: otar {source="MONDO:OTAR"}
synonym: "sil" BROAD [NCIT:C8334]
synonym: "SIN" BROAD ABBREVIATION [NCIT:C8334]
synonym: "squamous cell intraepithelial neoplasia" EXACT [NCIT:C8334]
synonym: "squamous intraepithelial lesion" EXACT [NCIT:C8334]
xref: MEDGEN:83092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8334 {source="MONDO:equivalentTo"}
xref: UMLS:C0333873 {source="MEDGEN:83092", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002532 {source="NCIT:C8334"} ! squamous cell neoplasm
is_a: MONDO:0024474 {source="MONDO:Redundant", source="NCIT:C8334"} ! intraepithelial neoplasia
intersection_of: MONDO:0024474 ! intraepithelial neoplasia
intersection_of: disease_arises_from_structure CL:0000076 ! squamous epithelial cell

[Term]
id: MONDO:0024476
name: epithelial neoplasm of rectum
def: "A epithelial neoplasm that involves the rectum." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "rectal epithelial neoplasm" EXACT []
synonym: "rectal epithelial tumor" EXACT []
synonym: "rectal epithelial tumour" EXACT OMO:0003005 []
synonym: "rectum epithelial neoplasm" EXACT [MONDO:patterns/location]
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: disease_has_location UBERON:0001052 ! rectum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0024477
name: liver and intrahepatic bile duct neoplasm
def: "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma." [NCIT:C7103]
subset: otar {source="MONDO:OTAR"}
synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT [DOID:916]
synonym: "hepatic and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103]
synonym: "liver and intrahepatic bile duct epithelial neoplasm" EXACT [NCIT:C7106]
synonym: "liver and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103]
synonym: "liver neoplasm" EXACT [MONDO:0004721]
synonym: "liver neoplasm (disease)" EXACT [MONDO:patterns/location]
synonym: "liver tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "liver tumour" EXACT OMO:0003005 []
synonym: "neoplasm of liver" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of liver" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of liver" EXACT OMO:0003005 []
xref: DOID:916 {source="MONDO:equivalentTo"}
xref: MEDGEN:232599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C12392 {source="ONCOTREE:LIVER"}
xref: NCIT:C7103 {source="MONDO:equivalentTo", source="DOID:916", source="MONDO:preferredExternal"}
xref: NCIT:C7106 {source="MONDO:equivalentTo", source="DOID:916"}
xref: ONCOTREE:LIVER {source="MONDO:equivalentTo"}
xref: SCTID:126851005 {source="MONDO:equivalentTo"}
xref: UMLS:C1333976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232599"}
is_a: MONDO:0002514 {source="DOID:916", source="MONDO:Redundant", source="NCIT:C7103", source="NCIT:C7106/inferred"} ! hepatobiliary neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002107 ! liver
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0024478
name: mesenchymal hamartoma
subset: otar {source="MONDO:OTAR"}
synonym: "mesenchymal hamartoma" EXACT [NCIT:C40427]
xref: MEDGEN:83108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40427 {source="MONDO:equivalentTo"}
xref: UMLS:C0334090 {source="MEDGEN:83108", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="NCIT:C40427"} ! hamartoma

[Term]
id: MONDO:0024479
name: epithelial tumor of colon
def: "A epithelial neoplasm that involves the colon." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
synonym: "colon epithelial neoplasm" EXACT [MONDO:patterns/location]
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: disease_has_location UBERON:0001155 ! colon
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0024480
name: dermatosis of eyelid
synonym: "dermatosis of eyelid" EXACT []
xref: MEDGEN:697502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:402700001 {source="MONDO:equivalentTo"}
xref: UMLS:C1274150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:697502"}
is_a: MONDO:0003382 ! eyelid disorder
relationship: disease_has_location UBERON:0001711 ! eyelid

[Term]
id: MONDO:0024481
name: skin appendage disorder
def: "A disease that involves the cutaneous appendage." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "cutaneous appendage disease" EXACT [MONDO:patterns/location]
synonym: "cutaneous appendage disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of cutaneous appendage" EXACT [MONDO:patterns/location_top]
synonym: "disease of epidermal appendage" RELATED []
synonym: "disease of epidermal appendages" RELATED []
synonym: "disease or disorder of cutaneous appendage" EXACT []
synonym: "disorder of cutaneous appendage" EXACT [MONDO:patterns/location_top]
synonym: "disorder of skin appendage" EXACT []
xref: ICD10CM:L60-L75 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:508145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238714008 {source="MONDO:equivalentTo"}
xref: UMLS:C0037272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508145"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0000021 ! cutaneous appendage

[Term]
id: MONDO:0024482
name: eccrine sweat gland hamartoma
def: "A hamartoma characterized by localized eccrine sweat gland malformation." [NCIT:C5564]
synonym: "eccrine sweat gland hamartoma" EXACT [NCIT:C5564]
synonym: "eccrine sweat gland hamartoma (disease)" EXACT [MONDO:patterns/location]
synonym: "hamartoma of eccrine sweat gland" EXACT [NCIT:C5564]
synonym: "hamartoma of the eccrine sweat gland" EXACT [NCIT:C5564]
xref: MEDGEN:232145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5564 {source="MONDO:equivalentTo"}
xref: UMLS:C1333372 {source="MONDO:equivalentTo", source="MEDGEN:232145", source="MONDO:MEDGEN"}
is_a: MONDO:0021539 {source="MONDO:Redundant", source="NCIT:C5564"} ! hamartoma of skin appendage
intersection_of: MONDO:0006499 ! hamartoma
intersection_of: disease_has_location UBERON:0000423 ! eccrine sweat gland

[Term]
id: MONDO:0024483
name: urothelial hyperplasia
def: "Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003" [NCIT:C27877]
subset: otar {source="MONDO:OTAR"}
synonym: "urothelial hyperplasia" EXACT [NCIT:C27877]
synonym: "urothelium hyperplasia" EXACT [MONDO:patterns/location]
xref: MEDGEN:234463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27877 {source="MONDO:equivalentTo"}
xref: UMLS:C1336895 {source="MEDGEN:234463", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005043 {source="MONDO:Redundant", source="NCIT:C27877"} ! hyperplasia
intersection_of: MONDO:0005043 ! hyperplasia
intersection_of: disease_has_location UBERON:0000365 ! urothelium

[Term]
id: MONDO:0024485
name: papillary urothelial hyperplasia
def: "A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003" [NCIT:C27879]
synonym: "papillary urothelial hyperplasia" EXACT [NCIT:C27879]
xref: MEDGEN:235457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27879 {source="MONDO:equivalentTo"}
xref: UMLS:C1335328 {source="MEDGEN:235457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024483 {source="NCIT:C27879"} ! urothelial hyperplasia

[Term]
id: MONDO:0024486
name: obsolete familial chronic mucocutaneous candidiasis
is_obsolete: true
replaced_by: MONDO:0015279

[Term]
id: MONDO:0024487
name: nail infection
def: "An infectious process affecting the nail." [NCIT:C78493]
synonym: "nail infection" EXACT [NCIT:C78493]
xref: MEDGEN:87467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78493 {source="MONDO:equivalentTo"}
xref: UMLS:C0343026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87467"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0001705 ! nail

[Term]
id: MONDO:0024488
name: tumor grading characteristic
def: "A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread" [https://www.cancer.gov/about-cancer/diagnosis-staging/prognosis/tumor-grade-fact-sheet]
is_a: MONDO:0021125 ! disease characteristic

[Term]
id: MONDO:0024489
name: general tumor grading characteristic
def: "A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated." [NCIT:C28076]
synonym: "disease grade qualifier" EXACT [NCIT:C28076]
xref: NCIT:C28076 {source="MONDO:equivalentTo"}
is_a: MONDO:0024488 {source="https://orcid.org/0000-0001-5208-3432"} ! tumor grading characteristic

[Term]
id: MONDO:0024490
name: tumor grade X, general grading system
synonym: "undetermined grade" EXACT []
is_a: MONDO:0024489 ! general tumor grading characteristic

[Term]
id: MONDO:0024491
name: tumor grade 1, general grading system
def: "A morphologic qualifier indicating that a cancerous lesion is well differentiated." [NCIT:C28077]
synonym: "G1" EXACT ABBREVIATION [NCIT:C28077]
synonym: "grade 1" EXACT [NCIT:C28077]
synonym: "grade I" EXACT [NCIT:C28077]
synonym: "low grade" EXACT []
synonym: "well differentiated" EXACT []
xref: MEDGEN:634565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C28077 {source="MONDO:equivalentTo"}
xref: SCTID:54102005 {source="UMLS:C0475269"}
xref: UMLS:C0475269 {source="MEDGEN:634565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024489 {source="MONDO:Redundant", source="NCIT:C28077"} ! general tumor grading characteristic

[Term]
id: MONDO:0024492
name: tumor grade 2, general grading system
def: "A morphologic qualifier indicating that a cancerous lesion is moderately differentiated." [NCIT:C28078]
synonym: "G2" EXACT ABBREVIATION [NCIT:C28078]
synonym: "grade 2" EXACT [NCIT:C28078]
synonym: "grade II" EXACT [NCIT:C28078]
synonym: "intermediate grade" EXACT []
synonym: "moderately differentiated" EXACT []
xref: NCIT:C28078 {source="MONDO:equivalentTo"}
is_a: MONDO:0024489 {source="MONDO:Redundant", source="NCIT:C28078"} ! general tumor grading characteristic

[Term]
id: MONDO:0024493
name: tumor grade 3, general grading system
def: "A morphologic qualifier indicating that a cancerous lesion is poorly differentiated." [NCIT:C28079]
synonym: "G3" EXACT ABBREVIATION [NCIT:C28079]
synonym: "grade 3" EXACT [NCIT:C28079]
synonym: "grade III" EXACT [NCIT:C28079]
synonym: "high grade" BROAD []
synonym: "poorly differentiated" EXACT []
xref: MEDGEN:634567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C28079 {source="MONDO:equivalentTo"}
xref: SCTID:61026006 {source="UMLS:C0475271"}
xref: UMLS:C0475271 {source="MEDGEN:634567", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024489 {source="MONDO:Redundant", source="NCIT:C28079"} ! general tumor grading characteristic

[Term]
id: MONDO:0024494
name: tumor grade 4, general grading system
def: "A morphologic qualifier indicating that a cancerous lesion is undifferentiated." [NCIT:C28082]
synonym: "G4" EXACT ABBREVIATION [NCIT:C28082]
synonym: "grade 4" EXACT [NCIT:C28082]
synonym: "grade IV" EXACT [NCIT:C28082]
synonym: "high grade" BROAD []
synonym: "undifferentiated" EXACT []
xref: NCIT:C28082 {source="MONDO:equivalentTo"}
is_a: MONDO:0024489 {source="MONDO:Redundant", source="NCIT:C28082"} ! general tumor grading characteristic

[Term]
id: MONDO:0024495
name: tumor grade 1 or 2, general grading system
synonym: "grade 1/2" EXACT [https://orcid.org/0000-0002-6601-2165]
is_a: MONDO:0024489 ! general tumor grading characteristic
union_of: MONDO:0024491 ! tumor grade 1, general grading system
union_of: MONDO:0024492 ! tumor grade 2, general grading system

[Term]
id: MONDO:0024496
name: tumor grade 2 or 3, general grading system
def: "A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated." [NCIT:C94678]
synonym: "grade 2/3" EXACT [NCIT:C94678]
xref: NCIT:C94678 {source="MONDO:equivalentTo"}
is_a: MONDO:0024489 {source="NCIT:C94678"} ! general tumor grading characteristic
union_of: MONDO:0024492 ! tumor grade 2, general grading system
union_of: MONDO:0024493 ! tumor grade 3, general grading system

[Term]
id: MONDO:0024497
name: tumor grade 3 or 4, general grading system
def: "Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive." [NCIT:C14158]
synonym: "grade 3/4" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "high grade" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C14158]
xref: NCIT:C14158 {source="MONDO:equivalentTo"}
is_a: MONDO:0024489 {source="NCIT:C14158/inferred"} ! general tumor grading characteristic
union_of: MONDO:0024493 ! tumor grade 3, general grading system
union_of: MONDO:0024494 ! tumor grade 4, general grading system

[Term]
id: MONDO:0024498
name: glioma susceptibility 1
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "astrocytoma" RELATED [OMIM:137800]
synonym: "ependymoma" RELATED [OMIM:137800]
synonym: "glioblastoma multiforme" RELATED [OMIM:137800]
synonym: "glioblastoma, somatic" EXACT [OMIM:137800, OMIM:genemap2]
synonym: "glioma of brain, familial" RELATED [OMIM:137800]
synonym: "glioma susceptibility 1" EXACT [OMIM:137800]
synonym: "glioma susceptibility 1, autosomal dominant, somatic mutation" EXACT [OMIM:137800, OMIM:genemap2]
synonym: "glioma, susceptibility to, somatic" EXACT [OMIM:137800, OMIM:genemap2]
synonym: "GLM1" EXACT ABBREVIATION [OMIM:137800]
synonym: "oligodendroglioma" RELATED [OMIM:137800]
synonym: "subependymoma" RELATED [OMIM:137800]
xref: MEDGEN:413414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:137800 {source="MONDO:equivalentTo"}
xref: Orphanet:182067 {source="OMIM:137800"}
xref: Orphanet:251627 {source="MONDO:relatedTo", source="OMIM:137800"}
xref: Orphanet:251630 {source="MONDO:relatedTo", source="OMIM:137800"}
xref: Orphanet:301 {source="MONDO:relatedTo", source="OMIM:137800"}
xref: Orphanet:360 {source="MONDO:relatedTo", source="OMIM:137800"}
xref: Orphanet:94 {source="MONDO:relatedTo", source="OMIM:137800"}
xref: UMLS:C2750850 {source="MONDO:equivalentTo", source="MEDGEN:413414", source="MONDO:MEDGEN"}
is_a: MONDO:0100242 {source="OMIM:137800"} ! glioma susceptibility
relationship: predisposes_towards MONDO:0100342 ! malignant glioma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024499
name: vascular bone neoplasm
def: "A benign, intermediate, or malignant vascular neoplasm that arises from the bone." [NCIT:C6478]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bone vascular neoplasm" EXACT [NCIT:C6478]
synonym: "bone vascular tumor" EXACT [NCIT:C6478]
synonym: "bone vascular tumour" EXACT OMO:0003005 []
synonym: "osseous vascular neoplasm" EXACT [NCIT:C6478]
synonym: "osseous vascular tumor" EXACT [NCIT:C6478]
synonym: "osseous vascular tumour" EXACT OMO:0003005 []
synonym: "vascular bone neoplasm" EXACT [NCIT:C6478]
synonym: "vascular neoplasm of bone" EXACT [NCIT:C6478]
synonym: "vascular neoplasm of the bone" EXACT [NCIT:C6478]
synonym: "vascular tumor of bone" EXACT [NCIT:C6478]
synonym: "vascular tumor of the bone" EXACT [NCIT:C6478]
synonym: "vascular tumour of bone" EXACT OMO:0003005 []
synonym: "vascular tumour of the bone" EXACT OMO:0003005 []
xref: MEDGEN:234986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6478 {source="MONDO:equivalentTo"}
xref: UMLS:C1336946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234986"}
is_a: MONDO:0024296 {source="MONDO:Entailed", source="NCIT:C6478"} ! vascular neoplasm
intersection_of: MONDO:0024296 ! vascular neoplasm
intersection_of: disease_has_location UBERON:0002481 ! bone tissue

[Term]
id: MONDO:0024500
name: duodenal neuroendocrine neoplasm
def: "A neuroendocrine neoplasm that involves the duodenum." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "duodenum NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "duodenum neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "duodenum neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "duodenum neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "duodenum neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "neuroendocrine neoplasm of duodenum" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: MEDGEN:1800031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5568608 {source="MEDGEN:1800031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002114 ! duodenum

[Term]
id: MONDO:0024501
name: appendix neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C60709]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "appendix neuroendocrine neoplasm" EXACT [NCIT:C60709]
synonym: "neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "vermiform appendix NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "vermiform appendix neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "vermiform appendix neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "vermiform appendix neuroendocrine tumour" EXACT OMO:0003005 []
xref: MEDGEN:361887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C60709 {source="MONDO:equivalentTo"}
xref: UMLS:C1879718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:361887"}
is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C60709"} ! appendiceal neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0024502
name: gallbladder neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C96917]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gall bladder NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "gall bladder neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "gall bladder neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "gall bladder neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "gallbladder neuroendocrine neoplasm" EXACT [NCIT:C96917]
synonym: "neuroendocrine neoplasm of gall bladder" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
xref: MEDGEN:474748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96917 {source="MONDO:equivalentTo"}
xref: UMLS:C3273115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474748"}
is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C96917"} ! gallbladder neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0002110 ! gallbladder

[Term]
id: MONDO:0024503
name: digestive system neuroendocrine neoplasm
def: "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." [NCIT:C27721]
subset: disease_grouping
subset: gard_rare {source="GARD:2437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:100092"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "alimentary part of gastrointestinal system NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "alimentary part of gastrointestinal system neuroendocrine neoplasm" EXACT [MONDO:patterns/location]
synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "alimentary part of gastrointestinal system neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "carcinoid tumor" RELATED [PMID:24714698, Wikipedia:Neuroendocrine_tumor#Gastroenteropancreatic_neuroendocrine_tumors_(GEP-NET)]
synonym: "carcinoid tumor of digestive system" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "carcinoid tumour" RELATED OMO:0003005 []
synonym: "carcinoid tumour of digestive system" EXACT OMO:0003005 []
synonym: "digestive system NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "digestive system neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C27721]
synonym: "digestive system neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "digestive system neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
synonym: "digestive system neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "gastro-enteropancreatic neuroendocrine tumor" EXACT [MONDO:0023217]
synonym: "gastro-enteropancreatic neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "gastroenteropancreatic endocrine tumor" EXACT [Orphanet:100092]
synonym: "gastroenteropancreatic endocrine tumour" EXACT OMO:0003005 []
synonym: "gastroenteropancreatic neuroendocrine neoplasm" EXACT [GARD:0002437, NCIT:C27721]
synonym: "gastrointestinal neuroendocrine neoplasm" EXACT [NCIT:C27721]
synonym: "gastrointestinal system neuroendocrine neoplasm" EXACT [NCIT:C27721]
synonym: "GEP tumors" RELATED [GARD:0002437]
synonym: "GEP tumours" RELATED OMO:0003005 []
synonym: "GEP-NEN" RELATED [Orphanet:100092]
synonym: "GEP-NET" RELATED [Orphanet:100092]
synonym: "neuroendocrine neoplasm of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm]
synonym: "neuroendocrine neoplasm of digestive system" EXACT [MONDO:patterns/neuroendocrine_neoplasm]
xref: GARD:2437 {source="MONDO:GARD"}
xref: MEDGEN:232237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535650 {source="MONDO:equivalentTo"}
xref: NCIT:C27721 {source="MONDO:equivalentTo"}
xref: Orphanet:100092 {source="MONDO:equivalentTo"}
xref: UMLS:C1333799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232237"}
is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C27721"} ! neuroendocrine neoplasm
is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C27721"} ! digestive system neoplasm
intersection_of: MONDO:0019496 ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor" xsd:anyURI {source="GARD:0002437"}

[Term]
id: MONDO:0024504
name: enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor
def: "A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome." [NCIT:C4446]
subset: gard_rare {source="GARD:22055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:506090"}
subset: orphanet_rare {source="Orphanet:506090"}
subset: rare
synonym: "carcinoid neoplasm of pancreas" EXACT [NCIT:C4446]
synonym: "carcinoid neoplasm of the pancreas" EXACT [NCIT:C4446]
synonym: "carcinoid tumor of pancreas" EXACT [NCIT:C4446]
synonym: "carcinoid tumor of the pancreas" EXACT [NCIT:C4446]
synonym: "carcinoid tumour of pancreas" EXACT OMO:0003005 []
synonym: "carcinoid tumour of the pancreas" EXACT OMO:0003005 []
synonym: "EC cell, serotonin producing pancreatic NET" EXACT [NCIT:C4446]
synonym: "EC cell, serotonin producing pancreatic neuroendocrine tumor" EXACT [NCIT:C4446]
synonym: "EC cell, serotonin producing pancreatic neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor" EXACT [NCIT:C4446]
synonym: "pancreatic carcinoid tumor" EXACT [NCIT:C4446]
synonym: "pancreatic carcinoid tumour" EXACT OMO:0003005 []
synonym: "pancreatic serotonin producing neoplasm" EXACT [NCIT:C4446]
synonym: "pancreatic serotonin producing tumor" EXACT [NCIT:C4446]
synonym: "pancreatic serotonin producing tumour" EXACT OMO:0003005 []
synonym: "serotonin-producing neuroendocrine tumor of pancreas" RELATED [Orphanet:506090]
synonym: "serotonin-producing neuroendocrine tumour of pancreas" RELATED OMO:0003005 []
synonym: "serotonin-producing pancreatic NET" EXACT [Orphanet:506090]
synonym: "serotonin-producing pancreatic neuroendocrine tumor" EXACT [Orphanet:506090]
synonym: "serotonin-producing pancreatic neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "serotonin-producing PNET" EXACT [Orphanet:506090]
synonym: "serotonin-producing tumor of pancreas" EXACT [NCIT:C4446]
synonym: "serotonin-producing tumor of the pancreas" EXACT [NCIT:C4446]
synonym: "serotonin-producing tumour of pancreas" EXACT OMO:0003005 []
synonym: "serotonin-producing tumour of the pancreas" EXACT OMO:0003005 []
xref: GARD:22055 {source="MONDO:GARD"}
xref: MEDGEN:91057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4446 {source="MONDO:equivalentTo"}
xref: Orphanet:506090 {source="MONDO:equivalentTo"}
xref: UMLS:C0345933 {source="MEDGEN:91057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021535 {source="NCIT:C4446"} ! pancreatic neuroendocrine tumor G1

[Term]
id: MONDO:0024505
name: obsolete disorder by anatomical region
def: "OBSOLETE. A broad grouping of diseases based on major body subdivisions." [https://orcid.org/0000-0002-6601-2165]
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
subset: metaclass
synonym: "disease by body site" RELATED []
synonym: "disease of organism subdivision" RELATED [MONDO:patterns/location_top]
synonym: "disorder by body site" RELATED []
synonym: "disorder of anatomical" RELATED []
synonym: "disorder of organism subdivision" RELATED [MONDO:patterns/location_top]
xref: SCTID:123946008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0024506
name: Adams-Oliver syndrome 1
def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "absence defect of limbs, scalp, and skull" RELATED [OMIM:100300]
synonym: "Adams-Oliver syndrome 1" EXACT [OMIM:100300]
synonym: "Adams-Oliver syndrome caused by mutation in ARHGAP31" EXACT [MONDO:design_pattern]
synonym: "AOS" RELATED ABBREVIATION [OMIM:100300]
synonym: "AOS1" EXACT ABBREVIATION [OMIM:100300]
synonym: "aplasia cutis congenita with terminal transverse limb defects" RELATED [OMIM:100300]
synonym: "aplasia cutis congenita, congenital heart defect, and frontonasal cysts" RELATED [OMIM:100300]
synonym: "ARHGAP31 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "congenital scalp defects with distal limb reduction anomalies" RELATED [OMIM:100300]
xref: MEDGEN:1635567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:100300 {source="MONDO:equivalentTo"}
xref: Orphanet:974 {source="OMIM:100300"}
xref: UMLS:C4551482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635567"}
is_a: MONDO:0007034 {source="MONDO:Redundant", source="OMIM:100300"} ! Adams-Oliver syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
intersection_of: MONDO:0007034 ! Adams-Oliver syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29216 ! ARHGAP31
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29216 {source="MONDO:mim2gene_medgen"} ! ARHGAP31
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0024507
name: aniridia 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AN1" EXACT ABBREVIATION [OMIM:106210]
synonym: "aniridia" BROAD [OMIM:106210, OMIM:genemap2]
synonym: "aniridia 1" EXACT CLINGEN_LABEL [OMIM:106210]
synonym: "aniridia II" RELATED [OMIM:106210]
synonym: "aniridia II, formerly" RELATED [OMIM:106210]
synonym: "cataract with late-onset corneal dystrophy" EXACT [OMIM:106210, OMIM:genemap2]
synonym: "cataract, congenital, with late-onset corneal dystrophy" RELATED [OMIM:106210]
xref: DOID:0070532 {source="MONDO:equivalentTo"}
xref: MEDGEN:576337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:106210 {source="MONDO:equivalentTo"}
xref: Orphanet:250923 {source="OMIM:106210"}
xref: SCTID:253231007 {source="MONDO:equivalentTo"}
xref: UMLS:C0344542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576337"}
is_a: MONDO:0007119 {source="OMIM:106210"} ! isolated aniridia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024508
name: epilepsy, hot water, 1
subset: gard_rare {source="GARD:18286", source="MONDO:GARD"}
subset: rare
synonym: "bathing epilepsy" RELATED [OMIM:613339]
synonym: "epilepsy, hot water, 1" EXACT [MONDO:Lexical, OMIM:613339]
synonym: "HWE1" EXACT ABBREVIATION [OMIM:613339]
synonym: "water immersion epilepsy" RELATED [OMIM:613339]
xref: DOID:0081106 {source="MONDO:equivalentTo"}
xref: GARD:18286 {source="MONDO:GARD"}
xref: MEDGEN:1636069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613339 {source="MONDO:equivalentTo"}
xref: Orphanet:166412 {source="OMIM:613339"}
xref: UMLS:C4551550 {source="MEDGEN:1636069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013229 {source="OMIM:613339"} ! hot water reflex epilepsy

[Term]
id: MONDO:0024512
name: spondyloarthropathy, susceptibility to
subset: predisposition
synonym: "SPDA" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: OMIMPS:106300 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005095 ! spondyloarthropathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:106300"} ! inherited

[Term]
id: MONDO:0024516
name: familial acne inversa
def: "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: otar {source="MONDO:OTAR"}
synonym: "ACNINV" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "familial hidradenitis suppurativa" EXACT [https://orcid.org/0000-0002-6601-2165]
synonym: "hereditary hidradenitis suppurativa" EXACT [MONDO:patterns/hereditary]
xref: MEDGEN:326766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:142690 {source="MONDO:equivalentTo"}
xref: UMLS:C1840560 {source="MEDGEN:326766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006559 {source="MONDO:Redundant"} ! hidradenitis suppurativa
intersection_of: MONDO:0006559 ! hidradenitis suppurativa
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:142690"} ! inherited

[Term]
id: MONDO:0024517
name: schwannomatosis 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neurilemmomatosis, congenital cutaneous" RELATED [OMIM:162091]
synonym: "SCHWANNOMATOSIS 1" RELATED [OMIM:162091]
synonym: "schwannomatosis, somatic" EXACT [OMIM:162091, OMIM:genemap2]
synonym: "schwannomatosis-1, susceptibility to" RELATED [OMIM:162091, OMIM:genemap2]
synonym: "SWNTS1" EXACT ABBREVIATION [OMIM:162091]
xref: DOID:0070480 {source="MONDO:equivalentTo"}
xref: MEDGEN:887689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:162091 {source="MONDO:equivalentTo"}
xref: Orphanet:93921 {source="OMIM:162091"}
xref: UMLS:C4048809 {source="MEDGEN:887689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008075 {source="OMIM:162091"} ! schwannomatosis
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162091"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024518
name: reactive thrombocytosis
def: "A thrombocytosis caused by an underlying condition, such as an infection." [https://www.mayoclinic.org/diseases-conditions/thrombocytosis/symptoms-causes/syc-20378315]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "secondary thrombocytosis" EXACT [https://www.mayoclinic.org/diseases-conditions/thrombocytosis/symptoms-causes/syc-20378315]
xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:630140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:234500001 {source="MONDO:equivalentTo"}
xref: UMLS:C0457506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:630140"}
is_a: MONDO:0002249 {source="https://orcid.org/0000-0002-6601-2165"} ! thrombocytosis disease

[Term]
id: MONDO:0024519
name: renal hypodysplasia/aplasia 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary renal aplasia" RELATED [OMIM:191830]
synonym: "renal adysplasia" RELATED [OMIM:191830]
synonym: "renal agenesis" RELATED [OMIM:191830]
synonym: "renal aplasia" RELATED [OMIM:191830]
synonym: "renal dysplasia, megalocystis, and sirenomelia" RELATED [GARD:0004791]
synonym: "renal hypodysplasia/aplasia 1" EXACT [OMIM:191830]
synonym: "RHDA1" EXACT ABBREVIATION [OMIM:191830]
synonym: "Selig Benacerraf Greene syndrome" RELATED [GARD:0004791]
xref: MEDGEN:301437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:191830 {source="MONDO:equivalentTo"}
xref: Orphanet:411709 {source="OMIM:191830"}
xref: UMLS:C1619700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:301437"}
is_a: MONDO:0018470 {source="OMIM:191830"} ! renal agenesis

[Term]
id: MONDO:0024520
name: renal hypodysplasia/aplasia 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "renal hypodysplasia/aplasia 3" EXACT [OMIM:617805]
synonym: "RHDA3" EXACT ABBREVIATION [OMIM:617805]
xref: MEDGEN:1626497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617805 {source="MONDO:equivalentTo"}
xref: UMLS:C4540497 {source="MEDGEN:1626497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018470 {source="OMIM:617805"} ! renal agenesis

[Term]
id: MONDO:0024521
name: aortic aneurysm, familial abdominal, 1
subset: gard_rare {source="GARD:16491", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAA1" EXACT ABBREVIATION [OMIM:100070]
synonym: "abdominal aortic aneurysm" RELATED [OMIM:100070]
synonym: "aneurysm, abdominal aortic" RELATED [OMIM:100070]
synonym: "aortic aneurysm, familial abdominal 1" EXACT [OMIM:100070, OMIM:genemap2]
synonym: "aortic aneurysm, familial abdominal, 1" EXACT [OMIM:100070]
xref: GARD:16491 {source="MONDO:GARD"}
xref: MEDGEN:339961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:100070 {source="MONDO:equivalentTo"}
xref: Orphanet:86 {source="OMIM:100070"}
xref: UMLS:C1853365 {source="MEDGEN:339961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007031 {source="OMIM:100070"} ! familial abdominal aortic aneurysm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024522
name: amyloidosis, primary localized cutaneous, 1
def: "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18637", source="MONDO:GARD"}
subset: rare
synonym: "amyloidosis 9" EXACT [GARD:0000132, OMIM:105250]
synonym: "amyloidosis, familial cutaneous lichen" RELATED [OMIM:105250]
synonym: "amyloidosis, primary cutaneous, 1" EXACT [OMIM:105250]
synonym: "amyloidosis, primary localised cutaneous, type 1" EXACT OMO:0003005 []
synonym: "amyloidosis, primary localized cutaneous, 1" EXACT [MONDO:Lexical, OMIM:105250]
synonym: "amyloidosis, primary localized cutaneous, type 1" EXACT [MONDORULE:1, OMIM:105250]
synonym: "lichen amyloidosis, familial" RELATED [OMIM:105250]
synonym: "OSMR primary cutaneous amyloidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PCA" RELATED ABBREVIATION [OMIM:105250]
synonym: "PLCA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105250]
synonym: "primary cutaneous amyloidosis caused by mutation in OSMR" EXACT [MONDO:design_pattern]
xref: DOID:0080930 {source="MONDO:equivalentTo"}
xref: GARD:18637 {source="MONDO:GARD"}
xref: MEDGEN:1639046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:105250 {source="MONDO:equivalentTo"}
xref: Orphanet:353220 {source="OMIM:105250"}
xref: UMLS:C4551501 {source="MEDGEN:1639046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007101 {source="MONDO:0024522/inferred", source="MONDO:Redundant", source="OMIM:105250"} ! familial primary localized cutaneous amyloidosis
intersection_of: MONDO:0007101 ! familial primary localized cutaneous amyloidosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8507 ! OSMR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8507 {source="MONDO:mim2gene_medgen"} ! OSMR

[Term]
id: MONDO:0024523
name: aortic valve disease 1
def: "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18470", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aortic stenosis, calcific" RELATED [OMIM:109730]
synonym: "aortic valve disease" RELATED [OMIM:109730]
synonym: "aortic valve disease 1" EXACT [OMIM:109730]
synonym: "aortic valve disease caused by mutation in NOTCH1" EXACT []
synonym: "aortic valve disease caused by mutation in Notch1" EXACT [MONDO:design_pattern]
synonym: "aortic valve, bicuspid" RELATED [OMIM:109730]
synonym: "aortic valve, calcification of" RELATED [OMIM:109730]
synonym: "AOVD1" EXACT ABBREVIATION [OMIM:109730]
synonym: "bicuspid aortic valve" RELATED [OMIM:109730]
synonym: "NOTCH1 aortic valve disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Notch1 aortic valve disease" EXACT [MONDO:design_pattern]
xref: DOID:0080333 {source="MONDO:equivalentTo"}
xref: GARD:18470 {source="MONDO:GARD"}
xref: MEDGEN:854610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:109730 {source="MONDO:equivalentTo", source="DOID:0080333"}
xref: Orphanet:402075 {source="OMIM:109730"}
xref: UMLS:C3887892 {source="MEDGEN:854610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003803 {source="MONDO:Redundant", source="OMIM:109730"} ! aortic valve disorder
is_a: MONDO:0007194 ! familial bicuspid aortic valve
intersection_of: MONDO:0003803 ! aortic valve disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 ! NOTCH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 {source="MONDO:mim2gene_medgen"} ! NOTCH1

[Term]
id: MONDO:0024524
name: dyschromatosis universalis hereditaria 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DUH1" EXACT ABBREVIATION [OMIM:127500]
synonym: "dyschromatosis universalis hereditaria 1" EXACT [OMIM:127500]
xref: MEDGEN:390864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567273 {source="MONDO:equivalentTo"}
xref: OMIM:127500 {source="MONDO:equivalentTo"}
xref: Orphanet:241 {source="OMIM:127500"}
xref: UMLS:C2675711 {source="MEDGEN:390864", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000736 {source="MONDO:Redundant", source="OMIM:127500"} ! dyschromatosis universalis hereditaria
relationship: excluded_subClassOf MONDO:0006600 {source="MESH:C567273", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete pigmentation disease
relationship: excluded_subClassOf MONDO:0024255 {source="MESH:C567273", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic skin disease

[Term]
id: MONDO:0024525
name: Fanconi renotubular syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult Fanconi syndrome" RELATED [OMIM:134600]
synonym: "DeToni-Debré-Fanconi syndrome" EXACT [Orphanet:3337]
synonym: "Fanconi renotubular syndrome" RELATED [OMIM:134600]
synonym: "Fanconi renotubular syndrome 1" EXACT [OMIM:134600]
synonym: "Fanconi syndrome without cystinosis" RELATED [OMIM:134600]
synonym: "FRTS1" EXACT ABBREVIATION [OMIM:134600]
synonym: "Luder-Sheldon syndrome" RELATED [OMIM:134600]
synonym: "primary Fanconi renal syndrome" EXACT [Orphanet:3337]
synonym: "primary Fanconi renotubular syndrome" EXACT [Orphanet:3337]
synonym: "renal Fanconi syndrome" RELATED [OMIM:134600]
xref: DOID:0080757 {source="MONDO:equivalentTo"}
xref: MEDGEN:1635492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:134600 {source="MONDO:equivalentTo"}
xref: UMLS:C4551503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635492"}
is_a: MONDO:0007600 ! primary Fanconi syndrome
is_a: MONDO:0100238 {source="MONDO:0024525/inferred", source="MONDO:Redundant", source="OMIM:134600"} ! inherited Fanconi renotubular syndrome
intersection_of: MONDO:0100238 ! inherited Fanconi renotubular syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4175 ! GATM

[Term]
id: MONDO:0024526
name: Zimmermann-Laband syndrome 1
def: "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1344"}
subset: rare
synonym: "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly" RELATED [OMIM:135500]
synonym: "KCNH1 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Laband Syndrome" EXACT [NORD:1344]
synonym: "Laband syndrome" RELATED [OMIM:135500]
synonym: "Zimmermann-Laband syndrome 1" EXACT [OMIM:135500]
synonym: "Zimmermann-Laband syndrome caused by mutation in KCNH1" EXACT [MONDO:design_pattern]
synonym: "ZLS1" EXACT ABBREVIATION [OMIM:135500]
xref: GARD:15071 {source="MONDO:GARD"}
xref: MEDGEN:1639277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1344 {source="MONDO:NORD"}
xref: OMIM:135500 {source="MONDO:equivalentTo"}
xref: Orphanet:3473 {source="OMIM:135500"}
xref: UMLS:C4551773 {source="MEDGEN:1639277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000200 {source="MONDO:Redundant", source="OMIM:135500"} ! Zimmermann-Laband syndrome
is_a: MONDO:0100485 {source="https://clinicalgenome.org/affiliation/40006/"} ! KCNH1 associated disorder
intersection_of: MONDO:0000200 ! Zimmermann-Laband syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6250 ! KCNH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6250 {source="MONDO:mim2gene_medgen"} ! KCNH1

[Term]
id: MONDO:0024527
name: glomerulopathy with fibronectin deposits 1
subset: gard_rare {source="GARD:9268", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GFND1" EXACT ABBREVIATION [OMIM:137950]
synonym: "glomerulopathy with fibronectin deposits 1" EXACT [OMIM:137950]
synonym: "glomerulopathy with giant fibrillar deposits" RELATED [OMIM:137950]
synonym: "lobular glomerulopathy, familial" RELATED [OMIM:137950]
xref: GARD:9268 {source="MONDO:GARD"}
xref: MEDGEN:98017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:137950 {source="MONDO:equivalentTo"}
xref: Orphanet:84090 {source="OMIM:137950"}
xref: UMLS:C0403557 {source="MEDGEN:98017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007671 {source="OMIM:137950"} ! fibronectin glomerulopathy

[Term]
id: MONDO:0024528
name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
def: "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13174", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern]
synonym: "PEOA1" EXACT ABBREVIATION [OMIM:157640]
synonym: "POLG autosomal dominant progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" EXACT [OMIM:157640]
synonym: "progressive external ophthalmoplegia, autosomal dominant 1" EXACT [OMIM:157640]
xref: DOID:0111521 {source="MONDO:equivalentTo"}
xref: GARD:13174 {source="MONDO:GARD"}
xref: MEDGEN:371919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:157640 {source="MONDO:equivalentTo"}
xref: Orphanet:254892 {source="OMIM:157640"}
xref: UMLS:C1834846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371919"}
is_a: MONDO:0000090 {source="MONDO:0024528/inferred", source="MONDO:Redundant", source="OMIM:157640"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0008003 {source="MONDO:Redundant"} ! autosomal dominant progressive external ophthalmoplegia
intersection_of: MONDO:0008003 ! autosomal dominant progressive external ophthalmoplegia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 ! POLG
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG

[Term]
id: MONDO:0024529
name: MVP1
subset: gard_rare {source="GARD:3688", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "barlow syndrome" RELATED [OMIM:157700]
synonym: "click-murmur syndrome" RELATED [OMIM:157700]
synonym: "floppy mitral valve" RELATED [OMIM:157700]
synonym: "mitral regurgitation, familial" RELATED [OMIM:157700]
synonym: "mitral valve prolapse 1" RELATED [OMIM:157700]
synonym: "mitral valve prolapse, familial" RELATED [OMIM:157700]
synonym: "mitral valve prolapse, familial, X-linked" RELATED [GARD:0003688]
synonym: "mitral valve prolapse, myxomatous 1" RELATED [OMIM:157700]
synonym: "MVP1" EXACT ABBREVIATION [OMIM:157700]
synonym: "myxomatous mitral valve prolapse 1" RELATED [OMIM:157700]
synonym: "myxomatous valvular disease, familial" RELATED [OMIM:157700]
synonym: "PMV" RELATED ABBREVIATION [GARD:0003688]
synonym: "prolapsed mitral valve" RELATED [GARD:0003688]
xref: GARD:3688 {source="MONDO:GARD"}
xref: MEDGEN:320443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:157700 {source="MONDO:equivalentTo"}
xref: Orphanet:741 {source="OMIM:157700"}
xref: UMLS:C1834819 {source="MEDGEN:320443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008004 {source="MONDO:Redundant", source="OMIM:157700"} ! familial mitral valve prolapse

[Term]
id: MONDO:0024530
name: Bethlem myopathy 1A
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Bethlem myopathy" RELATED [OMIM:158810]
synonym: "Bethlem myopathy 1" BROAD [OMIM:158810]
synonym: "BTHLM1" RELATED ABBREVIATION [OMIM:158810]
synonym: "muscular dystrophy, benign congenital" RELATED [OMIM:158810]
synonym: "myopathy, benign congenital, with contractures" RELATED [OMIM:158810]
xref: OMIM:158810 {source="MONDO:equivalentTo"}
xref: Orphanet:610 {source="OMIM:158810"}
is_a: MONDO:0008029 {source="OMIM:158810"} ! Bethlem myopathy
is_a: MONDO:0100225 {source="PMID:21691338", source="https://clinicalgenome.org/affiliation/40031/"} ! collagen 6-related myopathy

[Term]
id: MONDO:0024531
name: myopathy, tubular aggregate, 1
def: "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myopathy, tubular aggregate" RELATED [OMIM:160565]
synonym: "myopathy, tubular aggregate, 1" EXACT [OMIM:160565]
synonym: "STIM1 tubular aggregate myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "TAM1" RELATED ABBREVIATION [OMIM:160565]
synonym: "tubular aggregate myopathy" RELATED [OMIM:160565]
synonym: "tubular aggregate myopathy caused by mutation in STIM1" EXACT [MONDO:design_pattern]
xref: MEDGEN:860163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:160565 {source="MONDO:equivalentTo"}
xref: Orphanet:2593 {source="OMIM:160565"}
xref: UMLS:C4011726 {source="MEDGEN:860163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008051 {source="MONDO:Redundant", source="OMIM:160565"} ! tubular aggregate myopathy
intersection_of: MONDO:0008051 ! tubular aggregate myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11386 ! STIM1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11386 {source="MONDO:mim2gene_medgen"} ! STIM1

[Term]
id: MONDO:0024532
name: otofaciocervical syndrome 1
def: "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene." [MONDO:design_pattern]
subset: gard_rare {source="GARD:16502", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EYA1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "OFC" BROAD ABBREVIATION [OMIM:166780]
synonym: "OFC1" RELATED ABBREVIATION [OMIM:166780]
synonym: "OTFCS" BROAD ABBREVIATION [OMIM:166780]
synonym: "otofaciocervical syndrome" BROAD [OMIM:166780, OMIM:genemap2]
synonym: "otofaciocervical syndrome 1" EXACT [OMIM:166780]
synonym: "otofaciocervical syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern]
xref: GARD:16502 {source="MONDO:GARD"}
xref: MEDGEN:811516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:166780 {source="MONDO:equivalentTo"}
xref: Orphanet:2792 {source="OMIM:166780"}
xref: UMLS:C3714941 {source="MEDGEN:811516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008163 {source="MONDO:Redundant", source="OMIM:166780"} ! otofaciocervical syndrome
intersection_of: MONDO:0008163 ! otofaciocervical syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 ! EYA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 {source="MONDO:mim2gene_medgen"} ! EYA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024533
name: pulmonary hypertension, primary, 1
def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BMPR2 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PHT" RELATED ABBREVIATION [OMIM:178600]
synonym: "PPH1" RELATED ABBREVIATION [OMIM:178600]
synonym: "Pph1 with Hht" RELATED [OMIM:178600]
synonym: "primary pulmonary hypertension caused by mutation in BMPR2" EXACT [MONDO:design_pattern]
synonym: "pulmonary arterial hypertension" RELATED [OMIM:178600]
synonym: "pulmonary hypertension, familial primary, 1, with or without HHT" EXACT [OMIM:178600, OMIM:genemap2]
synonym: "pulmonary hypertension, primary, 1" EXACT CLINGEN_LABEL [OMIM:178600]
synonym: "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia" RELATED [OMIM:178600]
synonym: "pulmonary hypertension, primary, Dexfenfluramine-associated" RELATED [OMIM:178600]
synonym: "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated" EXACT [OMIM:178600, OMIM:genemap2]
synonym: "pulmonary hypertension, primary, Fenfluramine-associated" RELATED [OMIM:178600]
xref: MEDGEN:1643124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:178600 {source="MONDO:equivalentTo"}
xref: Orphanet:422 {source="OMIM:178600"}
xref: UMLS:C4552070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643124"}
is_a: MONDO:0017148 {source="MONDO:Redundant", source="OMIM:178600"} ! heritable pulmonary arterial hypertension
intersection_of: MONDO:0017148 ! heritable pulmonary arterial hypertension
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 ! BMPR2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 {source="MONDO:mim2gene_medgen"} ! BMPR2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024534
name: Dowling-Degos disease 1
def: "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DDD" RELATED ABBREVIATION [OMIM:179850]
synonym: "DDD1" RELATED ABBREVIATION [OMIM:179850]
synonym: "Dowling-Degos disease 1" EXACT [OMIM:179850]
synonym: "Dowling-Degos disease caused by mutation in KRT5" EXACT [MONDO:design_pattern]
synonym: "KRT5 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "reticular pigment anomaly of flexures" RELATED [OMIM:179850]
xref: MEDGEN:1645697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:179850 {source="MONDO:equivalentTo"}
xref: Orphanet:79145 {source="OMIM:179850"}
xref: UMLS:C4552092 {source="MEDGEN:1645697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000118 {source="MONDO:Redundant", source="OMIM:179850"} ! reticulate pigment disorder
is_a: MONDO:0008371 {source="MONDO:Redundant"} ! Dowling-Degos disease
intersection_of: MONDO:0008371 ! Dowling-Degos disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 ! KRT5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 {source="MONDO:mim2gene_medgen"} ! KRT5

[Term]
id: MONDO:0024535
name: Singleton-Merten syndrome 1
def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IFIH1 singleton-Merten dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "SGMRT1" RELATED ABBREVIATION [OMIM:182250]
synonym: "singleton-Merten dysplasia caused by mutation in IFIH1" EXACT [MONDO:design_pattern]
synonym: "singleton-Merten syndrome 1" RELATED [OMIM:182250]
xref: MEDGEN:899946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:182250 {source="MONDO:equivalentTo"}
xref: Orphanet:85191 {source="OMIM:182250"}
xref: UMLS:C4225427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899946"}
is_a: MONDO:0008429 {source="MONDO:Redundant", source="OMIM:182250"} ! Singleton-Merten dysplasia
is_a: MONDO:0700262 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! IFIH1-related type 1 interferonopathy
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
intersection_of: MONDO:0008429 ! Singleton-Merten dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 ! IFIH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 {source="MONDO:mim2gene_medgen"} ! IFIH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0024536
name: glucocorticoid deficiency 1
def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTH resistance" RELATED [OMIM:202200]
synonym: "adrenal unresponsiveness to ACTH" RELATED [OMIM:202200]
synonym: "familial glucocorticoid deficiency 1" RELATED [OMIM:202200]
synonym: "familial glucocorticoid deficiency caused by mutation in MC2R" EXACT [MONDO:design_pattern]
synonym: "GCCD1" RELATED ABBREVIATION [OMIM:202200]
synonym: "glucocorticoid deficiency 1" EXACT CLINGEN_LABEL [OMIM:202200]
synonym: "glucocorticoid deficiency, due to ACTH unresponsiveness" EXACT [OMIM:202200, OMIM:genemap2]
synonym: "MC2R familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080621 {source="MONDO:equivalentTo"}
xref: MEDGEN:885551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200408 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:202200 {source="MONDO:equivalentTo"}
xref: Orphanet:361 {source="OMIM:202200"}
xref: UMLS:C4049650 {source="MEDGEN:885551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:202200"} ! familial glucocorticoid deficiency
intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6930 ! MC2R
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6930 {source="MONDO:mim2gene_medgen"} ! MC2R
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024537
name: Brown-Vialetto-van Laere syndrome 1
def: "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18010", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:572543"}
subset: rare
synonym: "Brown-Vialetto-Van Laere syndrome 1" EXACT [OMIM:211530]
synonym: "Brown-Vialetto-van Laere syndrome 1" EXACT CLINGEN_LABEL []
synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3" EXACT [MONDO:design_pattern]
synonym: "bulbar palsy, progressive, with sensorineural deafness" RELATED [OMIM:211530]
synonym: "BVVLS1" RELATED ABBREVIATION [OMIM:211530]
synonym: "pontobulbar palsy with deafness" RELATED [OMIM:211530]
synonym: "rfvt2-related riboflavin transporter deficiency" EXACT [Orphanet:572543]
synonym: "Riboflavin transporter deficiency 2" EXACT [Orphanet:572543]
synonym: "RTD2" EXACT [Orphanet:572543]
synonym: "SLC52A3 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0080785 {source="MONDO:equivalentTo"}
xref: GARD:18010 {source="MONDO:GARD"}
xref: ICD10CM:G12.1 {source="Orphanet:572543", source="MONDO:mondoSubClassOfSource"}
xref: MEDGEN:163239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C133724 {source="MONDO:equivalentTo"}
xref: OMIM:211530 {source="MONDO:equivalentTo", source="Orphanet:572543"}
xref: Orphanet:572543 {source="MONDO:equivalentTo"}
xref: Orphanet:97229 {source="OMIM:211530"}
xref: UMLS:C0796274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163239"}
is_a: MONDO:0008891 {source="MONDO:indirect"} ! riboflavin transporter deficiency
intersection_of: MONDO:0008891 ! riboflavin transporter deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16187 ! SLC52A3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16187 {source="MONDO:mim2gene_medgen"} ! SLC52A3

[Term]
id: MONDO:0024538
name: basal ganglia calcification, idiopathic, 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "basal ganglia calcification, idiopathic, 1" EXACT [OMIM:213600]
synonym: "basal ganglia calcification, idiopathic, 2" EXACT [MONDO:0011692, MONDO:Lexical, OMIM:606656]
synonym: "basal ganglia calcification, idiopathic, 3" RELATED [OMIM:213600]
synonym: "basal ganglia calcification, idiopathic, 3, formerly" RELATED [OMIM:213600]
synonym: "basal ganglia calcification, idiopathic, type 1" EXACT [OMIM:213600]
synonym: "cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset" RELATED [OMIM:213600]
synonym: "Fahr disease, familial" RELATED [OMIM:213600]
synonym: "Fahr disease, familial, formerly" RELATED [OMIM:213600]
synonym: "ferrocalcinosis, cerebrovascular" RELATED [OMIM:213600]
synonym: "IBGC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213600]
synonym: "IBGC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606656]
synonym: "idiopathic basal ganglia calcification 1" EXACT [NCIT:C129973]
synonym: "striopallidodentate calcinosis, autosomal dominant, adult-onset" RELATED [OMIM:213600]
synonym: "striopallidodentate calcinosis, bilateral" RELATED [OMIM:213600]
xref: MEDGEN:1637664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537657 {source="MONDO:equivalentTo"}
xref: NANDO:1200208 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129973 {source="MONDO:equivalentTo"}
xref: OMIM:213600 {source="MONDO:equivalentTo"}
xref: OMIM:606656 {source="MONDO:equivalentObsolete"}
xref: Orphanet:1980 {source="OMIM:606656", source="OMIM:213600"}
xref: UMLS:C4551624 {source="MEDGEN:1637664", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008947 {source="MONDO:Redundant", source="OMIM:213600", source="OMIM:606656", source="Orphanet:1980/btnt"} ! bilateral striopallidodentate calcinosis
intersection_of: MONDO:0008947 ! bilateral striopallidodentate calcinosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10947 ! SLC20A2
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4277" xsd:anyURI

[Term]
id: MONDO:0024539
name: choroidal dystrophy, central areolar, 1
def: "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CACD1" RELATED ABBREVIATION [OMIM:215500]
synonym: "central areolar choroidal dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern]
synonym: "choroidal dystrophy, central areolar" RELATED [OMIM:215500]
synonym: "choroidal dystrophy, central areolar 1" EXACT [OMIM:215500, OMIM:genemap2]
synonym: "choroidal dystrophy, central areolar, 1" EXACT [OMIM:215500]
synonym: "choroidal sclerosis" RELATED [OMIM:215500]
synonym: "GUCY2D central areolar choroidal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:1639900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:215500 {source="MONDO:equivalentTo"}
xref: Orphanet:75377 {source="OMIM:215500"}
xref: UMLS:C4551884 {source="MEDGEN:1639900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008982 {source="MONDO:Redundant", source="OMIM:215500"} ! central areolar choroidal dystrophy
is_a: MONDO:0100441 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D-related dominant retinopathy
intersection_of: MONDO:0008982 ! central areolar choroidal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 ! GUCY2D
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="MONDO:mim2gene_medgen"} ! GUCY2D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024540
name: Jervell and Lange-Nielsen syndrome 1
def: "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [OMIM:220400]
synonym: "deafness, congenital, and functional heart disease" RELATED [OMIM:220400]
synonym: "Jervell and Lange-Nielsen syndrome" BROAD [OMIM:220400, OMIM:genemap2]
synonym: "Jervell and Lange-Nielsen syndrome 1" EXACT [OMIM:220400]
synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern]
synonym: "JLNS1" RELATED ABBREVIATION [OMIM:220400]
synonym: "KCNQ1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "prolonged QT interval in Ekg and sudden death" RELATED [OMIM:220400]
synonym: "Surdo-Cardiac syndrome" RELATED [OMIM:220400]
xref: MEDGEN:1646925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:220400 {source="MONDO:equivalentTo"}
xref: Orphanet:768 {source="OMIM:220400"}
xref: Orphanet:90647 {source="OMIM:220400"}
xref: UMLS:C4551509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646925"}
is_a: MONDO:0002441 {source="MONDO:Redundant", source="OMIM:220400"} ! Jervell and Lange-Nielsen syndrome
intersection_of: MONDO:0002441 ! Jervell and Lange-Nielsen syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 ! KCNQ1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 {source="MONDO:mim2gene_medgen"} ! KCNQ1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024541
name: trichohepatoenteric syndrome 1
def: "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diarrhea, fatal infantile, with trichorrhexis nodosa" RELATED [OMIM:222470]
synonym: "diarrhea, syndromic" RELATED [OMIM:222470]
synonym: "The syndrome" RELATED [OMIM:222470]
synonym: "THES1" RELATED ABBREVIATION [OMIM:222470]
synonym: "tricho-hepato-enteric syndrome caused by mutation in TTC37" EXACT [MONDO:design_pattern]
synonym: "TRICHOHEPATOENTERIC syndrome 1" EXACT [MONDO:Lexical, OMIM:222470]
synonym: "trichohepatoenteric syndrome 1" EXACT CLINGEN_LABEL []
synonym: "TTC37 tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111415 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:222470 {source="MONDO:equivalentTo"}
xref: Orphanet:84064 {source="OMIM:222470"}
xref: UMLS:C4551982 {source="MEDGEN:1644087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009105 {source="MONDO:Redundant", source="OMIM:222470"} ! trichohepatoenteric syndrome
intersection_of: MONDO:0009105 ! trichohepatoenteric syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23639 ! SKIC3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23639 {source="MONDO:mim2gene_medgen"} ! SKIC3

[Term]
id: MONDO:0024542
name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAMRQ1" RELATED DEPRECATED [MONDO:Lexical, OMIM:224050]
synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1" RELATED [OMIM:224050]
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" RELATED DEPRECATED [OMIM:224050]
synonym: "cerebellar ataxia, congenital, and intellectual disability, autosomal recessive" RELATED [OMIM:224050]
synonym: "cerebellar ataxia, congenital, and mental retardation, autosomal recessive" RELATED DEPRECATED [OMIM:224050]
synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" EXACT CLINGEN_LABEL [OMIM:224050]
synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1" EXACT [MONDORULE:1, OMIM:224050]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" RELATED DEPRECATED [OMIM:224050]
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:224050]
synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" EXACT [OMIM:224050, OMIM:genemap2]
synonym: "cerebellar hypoplasia, VLDLR-associated" RELATED [OMIM:224050]
synonym: "dysequilibrium syndrome" RELATED [OMIM:224050]
synonym: "dysequilibrium syndrome caused by mutation in VLDLR" EXACT [MONDO:design_pattern]
synonym: "VLDLR dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:1639436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:224050 {source="MONDO:equivalentTo"}
xref: Orphanet:1766 {source="OMIM:224050"}
xref: UMLS:C4551552 {source="MEDGEN:1639436", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009133 {source="MONDO:Redundant", source="OMIM:224050"} ! cerebellar ataxia, intellectual disability, and dysequilibrium
intersection_of: MONDO:0009133 ! cerebellar ataxia, intellectual disability, and dysequilibrium
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12698 ! VLDLR
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12698 {source="MONDO:mim2gene_medgen"} ! VLDLR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024543
name: brittle cornea syndrome 1
def: "Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BCS1" RELATED ABBREVIATION [OMIM:229200]
synonym: "brittle cornea syndrome 1" EXACT [OMIM:229200]
synonym: "brittle cornea syndrome caused by mutation in ZNF469" EXACT [MONDO:design_pattern]
synonym: "corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility" RELATED [OMIM:229200]
synonym: "dysgenesis Mesodermalis corneae Et sclerae" RELATED [OMIM:229200]
synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:229200]
synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:229200]
synonym: "Fragilitas oculi with Joint hyperextensibility" RELATED [OMIM:229200]
synonym: "ZNF469 brittle cornea syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:78661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536192 {source="MONDO:equivalentTo"}
xref: OMIM:229200 {source="MONDO:equivalentTo"}
xref: Orphanet:90354 {source="OMIM:229200"}
xref: SCTID:31798004 {source="MONDO:equivalentTo"}
xref: UMLS:C0268344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78661"}
is_a: MONDO:0009242 {source="MONDO:Redundant", source="OMIM:229200"} ! brittle cornea syndrome
intersection_of: MONDO:0009242 ! brittle cornea syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23216 ! ZNF469
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:229200"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23216 {source="MONDO:mim2gene_medgen"} ! ZNF469

[Term]
id: MONDO:0024544
name: obsolete Heimler syndrome 1
synonym: "hearing loss, sensorineural, with enamel hypoplasia and nail defects" RELATED [OMIM:234580]
synonym: "HEIMLER syndrome 1" RELATED [OMIM:234580]
synonym: "HMLR1" RELATED ABBREVIATION [OMIM:234580]
synonym: "peroxisome biogenesis disorder 1C" RELATED [OMIM:234580]
xref: DOID:0080623 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:234580 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:3220 {source="OMIM:234580"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3222" xsd:anyURI
is_obsolete: true
consider: MONDO:0100259

[Term]
id: MONDO:0024545
name: Miyoshi muscular dystrophy 1
def: "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DYSF Miyoshi myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "MIYOSHI muscular dystrophy 1" RELATED [OMIM:254130]
synonym: "Miyoshi myopathy" RELATED [OMIM:254130]
synonym: "Miyoshi myopathy caused by mutation in DYSF" EXACT [MONDO:design_pattern]
synonym: "MMD1" RELATED ABBREVIATION [OMIM:254130]
synonym: "muscular dystrophy, distal, late-onset, autosomal recessive" RELATED [OMIM:254130]
xref: DOID:0070199 {source="MONDO:equivalentTo"}
xref: MEDGEN:1640757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:254130 {source="MONDO:equivalentTo"}
xref: Orphanet:45448 {source="OMIM:254130"}
xref: UMLS:C4551973 {source="MEDGEN:1640757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009685 {source="MONDO:Redundant"} ! Miyoshi myopathy
is_a: MONDO:0016145 ! qualitative or quantitative defects of dysferlin
is_a: MONDO:0018949 {source="MONDO:Redundant", source="OMIM:254130"} ! distal myopathy
intersection_of: MONDO:0009685 ! Miyoshi myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 ! DYSF
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="MONDO:mim2gene_medgen"} ! DYSF
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy" xsd:string {source="GARD:0009676"}

[Term]
id: MONDO:0024546
name: hypertrophic osteoarthropathy, primary, autosomal recessive, 1
def: "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15216", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cranioosteoarthropathy" RELATED [OMIM:259100]
synonym: "Currarino idiopathic osteoarthropathy" RELATED [OMIM:259100]
synonym: "familial idiopathic osteoarthropathy of childhood" RELATED [OMIM:259100]
synonym: "HPGD primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive 1" EXACT [OMIM:259100, OMIM:genemap2]
synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" EXACT CLINGEN_LABEL [OMIM:259100]
synonym: "pachydermoperiostosis, autosomal recessive" RELATED [OMIM:259100]
synonym: "PDP, autosomal recessive" RELATED [OMIM:259100]
synonym: "Pho, autosomal recessive" RELATED [OMIM:259100]
synonym: "PHOAR1" RELATED ABBREVIATION [OMIM:259100]
synonym: "primary hypertrophic osteoarthropathy caused by mutation in HPGD" EXACT [MONDO:design_pattern]
synonym: "Touraine-Solente-Gole syndrome" RELATED [OMIM:259100]
xref: GARD:15216 {source="MONDO:GARD"}
xref: MEDGEN:1641972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:259100 {source="MONDO:equivalentTo"}
xref: Orphanet:1525 {source="OMIM:259100", source="MONDO:directSiblingOf"}
xref: Orphanet:2796 {source="OMIM:259100"}
xref: UMLS:C4551679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641972"}
is_a: MONDO:0016620 {source="MONDO:0024546/inferred", source="MONDO:Redundant", source="OMIM:259100"} ! primary hypertrophic osteoarthropathy
intersection_of: MONDO:0016620 ! primary hypertrophic osteoarthropathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5154 ! HPGD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5154 {source="MONDO:mim2gene_medgen"} ! HPGD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0024547
name: pancreatic agenesis 1
def: "Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene." [MONDO:design_pattern]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Pagen" RELATED [OMIM:260370]
synonym: "PAGEN1" RELATED ABBREVIATION [OMIM:260370]
synonym: "pancreatic agenesis 1" EXACT CLINGEN_LABEL [OMIM:260370]
synonym: "pancreatic agenesis caused by mutation in PDX1" EXACT [MONDO:design_pattern]
synonym: "pancreatic hypoplasia, congenital" RELATED [OMIM:260370]
synonym: "PDX1 pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:15220 {source="MONDO:GARD"}
xref: MEDGEN:856095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:260370 {source="MONDO:equivalentTo"}
xref: Orphanet:2805 {source="OMIM:260370"}
xref: UMLS:C3891828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:856095"}
is_a: MONDO:0009832 {source="MONDO:Redundant", source="OMIM:260370"} ! pancreatic agenesis
intersection_of: MONDO:0009832 ! pancreatic agenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6107 ! PDX1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6107 {source="MONDO:mim2gene_medgen"} ! PDX1

[Term]
id: MONDO:0024548
name: peeling skin syndrome 1
def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:263553"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDSN peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "deciduous skin" RELATED [OMIM:270300]
synonym: "generalised deciduous skin type B" EXACT OMO:0003005 []
synonym: "generalised peeling skin syndrome type B" EXACT OMO:0003005 []
synonym: "generalized deciduous skin type B" EXACT [Orphanet:263553]
synonym: "generalized peeling skin syndrome type B" EXACT [Orphanet:263553]
synonym: "inflammatory peeling skin syndrome" EXACT [Orphanet:263553]
synonym: "keratolysis exfoliativa congenita" RELATED [OMIM:270300]
synonym: "peeling skin syndrome 1" EXACT [OMIM:270300]
synonym: "peeling skin syndrome caused by mutation in CDSN" EXACT [MONDO:design_pattern]
synonym: "peeling skin syndrome type B" EXACT [MONDO:0016992]
synonym: "PSS" RELATED ABBREVIATION [OMIM:270300]
synonym: "PSS type B" EXACT [Orphanet:263553]
synonym: "PSS1" RELATED ABBREVIATION [OMIM:270300]
synonym: "skin peeling, familial continuous generalised" RELATED OMO:0003005 []
synonym: "skin peeling, familial continuous generalized" RELATED [OMIM:270300]
xref: DOID:0070520 {source="MONDO:equivalentTo"}
xref: GARD:17259 {source="MONDO:GARD"}
xref: ICD10CM:Q80.8 {source="Orphanet:263553", source="Orphanet:263553/attributed", source="Orphanet:263553/ntbt"}
xref: MEDGEN:336530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:270300 {source="MONDO:equivalentTo", source="Orphanet:263553", source="Orphanet:263553/ntbt"}
xref: Orphanet:263543 {source="OMIM:270300"}
xref: Orphanet:263553 {source="MONDO:equivalentTo"}
xref: UMLS:C1849193 {source="MEDGEN:336530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010033 {source="Orphanet:263553"} ! generalized peeling skin syndrome
is_a: MONDO:0019347 {source="MONDO:Redundant", source="OMIM:270300"} ! peeling skin syndrome
intersection_of: MONDO:0019347 ! peeling skin syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1802 ! CDSN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1802 {source="MONDO:mim2gene_medgen"} ! CDSN

[Term]
id: MONDO:0024549
name: microphthalmia with coloboma 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCOPCB1" EXACT ABBREVIATION [OMIM:300345]
synonym: "microphthalmia, colobomatous, isolated 1" RELATED [OMIM:300345]
synonym: "microphthalmia, isolated, with coloboma 1" RELATED [OMIM:300345]
xref: MEDGEN:337338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300345 {source="MONDO:equivalentTo"}
xref: Orphanet:98938 {source="OMIM:300345"}
xref: UMLS:C1845877 {source="MONDO:equivalentTo", source="MEDGEN:337338", source="MONDO:MEDGEN"}
is_a: MONDO:0000170 {source="MONDO:0024549/inferred", source="MONDO:Redundant", source="OMIM:300345"} ! microphthalmia, isolated, with coloboma

[Term]
id: MONDO:0024550
name: frontometaphyseal dysplasia 1
def: "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15293", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FLNA frontometaphyseal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fmd" RELATED [OMIM:305620]
synonym: "FMD1" RELATED ABBREVIATION [OMIM:305620]
synonym: "FRONTOMETAPHYSEAL dysplasia 1" RELATED [OMIM:305620]
synonym: "frontometaphyseal dysplasia 1, X-linked recessive" EXACT [OMIM:305620, OMIM:genemap2]
synonym: "frontometaphyseal dysplasia caused by mutation in FLNA" EXACT [MONDO:design_pattern]
xref: DOID:0111786 {source="MONDO:equivalentTo"}
xref: GARD:15293 {source="MONDO:GARD"}
xref: MEDGEN:923943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:305620 {source="MONDO:equivalentTo"}
xref: Orphanet:1826 {source="OMIM:305620"}
xref: UMLS:C4281559 {source="MEDGEN:923943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015942 {source="MONDO:Redundant", source="OMIM:305620"} ! frontometaphyseal dysplasia
is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder
intersection_of: MONDO:0015942 ! frontometaphyseal dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 ! FLNA
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0024551
name: X-linked lymphoproliferative disease due to SH2D1A deficiency
def: "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells." [Orphanet:538931]
subset: gard_rare {source="GARD:7906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:538931"}
subset: orphanet_rare {source="Orphanet:538931"}
subset: rare
synonym: "Duncan disease" RELATED [OMIM:308240]
synonym: "EBV infection, Severe, susceptibility to" RELATED [OMIM:308240]
synonym: "Epstein-Barr Virus infection, familial fatal" RELATED [OMIM:308240]
synonym: "immunodeficiency 5" RELATED [OMIM:308240]
synonym: "immunodeficiency, X-linked progressive combined variable" RELATED [OMIM:308240]
synonym: "infectious mononucleosis, Severe, susceptibility to" RELATED [OMIM:308240]
synonym: "lymphoproliferative disease, X-linked" RELATED [OMIM:308240]
synonym: "lymphoproliferative syndrome, X-linked, 1" RELATED [OMIM:308240]
synonym: "lymphoproliferative syndrome, X-linked, 1, X-linked recessive" EXACT [OMIM:308240, OMIM:genemap2]
synonym: "Lyp" RELATED [OMIM:308240]
synonym: "Purtilo syndrome" RELATED [OMIM:308240]
synonym: "X-linked lymphoproliferative disease due to SH2D1A deficiency" EXACT CLINGEN_LABEL []
synonym: "Xlp" RELATED [OMIM:308240]
synonym: "XLP1" RELATED ABBREVIATION [OMIM:308240]
xref: GARD:7906 {source="MONDO:GARD"}
xref: MEDGEN:1770239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308240 {source="MONDO:equivalentTo", source="Orphanet:538931"}
xref: Orphanet:2442 {source="OMIM:308240"}
xref: Orphanet:538931 {source="MONDO:equivalentTo"}
xref: UMLS:C5399825 {source="MEDGEN:1770239", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:538931"} ! disease
is_a: MONDO:0010627 {source="Orphanet:538931"} ! X-linked lymphoproliferative syndrome
intersection_of: MONDO:0010627 ! X-linked lymphoproliferative syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10820 ! SH2D1A
relationship: has_characteristic HP:0001419 {source="Orphanet:538931"} ! X-linked recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024552
name: linear skin defects with multiple congenital anomalies 1
def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene." [MONDO:patterns/disease_series_by_gene]
comment: Editor note: this is in two OMIMPSs, see notes on parent
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HCCS microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "linear skin defects with multiple congenital anomalies 1" EXACT CLINGEN_LABEL [OMIM:309801]
synonym: "linear skin defects with multiple congenital anomalies 1, X-linked dominant" EXACT [OMIM:309801, OMIM:genemap2]
synonym: "LSDMCA1" RELATED ABBREVIATION [OMIM:309801]
synonym: "microphthalmia with linear skin defects" RELATED [OMIM:309801]
synonym: "microphthalmia with linear skin defects syndrome caused by mutation in HCCS" EXACT [MONDO:design_pattern]
synonym: "microphthalmia, dermal aplasia, and sclerocornea" RELATED [OMIM:309801]
synonym: "microphthalmia, syndromic 7" RELATED [OMIM:309801]
synonym: "Midas syndrome" RELATED [OMIM:309801]
xref: DOID:0111808 {source="MONDO:equivalentTo"}
xref: MEDGEN:163210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:309801 {source="MONDO:equivalentTo"}
xref: Orphanet:2556 {source="OMIM:309801"}
xref: UMLS:C0796070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163210"}
is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:309801"} ! linear skin defects with multiple congenital anomalies
intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4837 ! HCCS
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4837 {source="MONDO:mim2gene_medgen"} ! HCCS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024553
name: myopathy, lactic acidosis, and sideroblastic anemia 1
def: "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "mitochondrial myopathy and sideroblastic anaemia" RELATED OMO:0003005 []
synonym: "mitochondrial myopathy and sideroblastic anemia" RELATED [OMIM:600462]
synonym: "MLASA1" RELATED ABBREVIATION [OMIM:600462]
synonym: "myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1" EXACT OMO:0003005 []
synonym: "myopathy, lactic acidosis, and sideroblastic anemia 1" EXACT [OMIM:600462]
synonym: "myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1" EXACT [MONDO:design_pattern]
synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anaemia" EXACT OMO:0003005 []
synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111185 {source="MONDO:equivalentTo"}
xref: MEDGEN:1634824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600462 {source="MONDO:equivalentTo"}
xref: Orphanet:2598 {source="OMIM:600462"}
xref: UMLS:C4551958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634824"}
is_a: MONDO:0000863 {source="MONDO:0024553/inferred", source="MONDO:Redundant", source="OMIM:600462"} ! myopathy, lactic acidosis, and sideroblastic anemia
intersection_of: MONDO:0000863 ! myopathy, lactic acidosis, and sideroblastic anemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15508 ! PUS1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15508 {source="MONDO:mim2gene_medgen"} ! PUS1

[Term]
id: MONDO:0024554
name: D-2-hydroxyglutaric aciduria 1
def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "D-2-hydroxyglutaric aciduria" BROAD [OMIM:600721, OMIM:genemap2]
synonym: "D-2-hydroxyglutaric aciduria 1" EXACT CLINGEN_LABEL [OMIM:600721]
synonym: "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH" EXACT [MONDO:design_pattern]
synonym: "D2HGA1" RELATED ABBREVIATION [OMIM:600721]
synonym: "D2HGDH D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0111351 {source="MONDO:equivalentTo"}
xref: MEDGEN:463405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600721 {source="MONDO:equivalentTo"}
xref: Orphanet:79315 {source="OMIM:600721"}
xref: UMLS:C3152055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463405"}
is_a: MONDO:0010924 {source="MONDO:Redundant", source="OMIM:600721"} ! D-2-hydroxyglutaric aciduria
intersection_of: MONDO:0010924 ! D-2-hydroxyglutaric aciduria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28358 ! D2HGDH
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28358 {source="MONDO:mim2gene_medgen"} ! D2HGDH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024555
name: megalencephalic leukoencephalopathy with subcortical cysts 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "leukoencephalopathy with swelling and cysts" RELATED [OMIM:604004]
synonym: "Lvm" RELATED [OMIM:604004]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts" BROAD [OMIM:604004, OMIM:genemap2]
synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" EXACT CLINGEN_LABEL [OMIM:604004]
synonym: "MLC1" RELATED ABBREVIATION [OMIM:604004]
synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" RELATED [OMIM:604004]
synonym: "Van Der Knaap disease" RELATED [OMIM:604004]
synonym: "VL" RELATED ABBREVIATION [OMIM:604004]
xref: DOID:0080316 {source="MONDO:equivalentTo"}
xref: MEDGEN:1826136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604004 {source="MONDO:equivalentTo"}
xref: Orphanet:2478 {source="OMIM:604004"}
xref: UMLS:C5779875 {source="MEDGEN:1826136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:604004"} ! leukoencephalopathy, megalencephalic
is_a: MONDO:0011391 {source="https://orcid.org/0000-0001-5208-3432"} ! megalencephalic leukoencephalopathy with subcortical cysts
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024556
name: epilepsy, familial focal, with variable foci 1
def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18202", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEPDC5 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "epilepsy, familial focal, with variable foci" RELATED [OMIM:604364]
synonym: "epilepsy, familial focal, with variable foci 1" EXACT [OMIM:604364]
synonym: "epilepsy, familial focal, with variable foci caused by mutation in DEPDC5" EXACT [MONDO:design_pattern]
synonym: "epilepsy, partial, with variable foci" RELATED [OMIM:604364]
synonym: "FFEVF1" RELATED ABBREVIATION [OMIM:604364]
xref: DOID:0081421 {source="MONDO:equivalentTo"}
xref: GARD:18202 {source="MONDO:GARD"}
xref: MEDGEN:1641798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C161005 {source="MONDO:equivalentTo"}
xref: OMIM:604364 {source="MONDO:equivalentTo"}
xref: Orphanet:98820 {source="OMIM:604364"}
xref: UMLS:C4551983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641798"}
is_a: MONDO:0020310 {source="MONDO:Redundant", source="OMIM:604364"} ! familial focal epilepsy with variable foci
intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18423 ! DEPDC5
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18423 {source="MONDO:mim2gene_medgen"} ! DEPDC5

[Term]
id: MONDO:0024557
name: ataxia-telangiectasia-like disorder 1
def: "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17209", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251347"}
subset: orphanet_rare {source="Orphanet:251347"}
subset: rare
synonym: "ataxia - telangiectasia-like disorder caused by mutation in MRE11" EXACT []
synonym: "ataxia-telangiectasia-like disorder 1" EXACT [OMIM:604391]
synonym: "ataxia-telangiectasia-like disorder caused by mutation in MRE11" EXACT [MONDO:design_pattern]
synonym: "Atld" RELATED [OMIM:604391]
synonym: "ATLD1" RELATED ABBREVIATION [OMIM:604391]
synonym: "MRE11 ataxia - telangiectasia-like disorder" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MRE11 ataxia-telangiectasia-like disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0081384 {source="MONDO:equivalentTo"}
xref: GARD:17209 {source="MONDO:GARD"}
xref: MEDGEN:861227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C132224 {source="MONDO:equivalentTo"}
xref: OMIM:604391 {source="MONDO:equivalentTo"}
xref: Orphanet:251347 {source="MONDO:equivalentTo", source="OMIM:604391"}
xref: UMLS:C4012790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:861227"}
is_a: MONDO:0011457 {source="MONDO:Redundant", source="OMIM:604391"} ! ataxia-telangiectasia-like disorder
intersection_of: MONDO:0011457 ! ataxia-telangiectasia-like disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7230 ! MRE11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7230 {source="MONDO:mim2gene_medgen"} ! MRE11

[Term]
id: MONDO:0024558
name: radioulnar synostosis with amegakaryocytic thrombocytopenia 1
def: "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11" EXACT [MONDO:design_pattern]
synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 1" EXACT CLINGEN_LABEL [OMIM:605432]
synonym: "Rusat" RELATED [OMIM:605432]
synonym: "RUSAT1" RELATED ABBREVIATION [OMIM:605432]
synonym: "thrombocytopenia, congenital, with radioulnar synostosis" RELATED [OMIM:605432]
xref: GARD:18068 {source="MONDO:GARD"}
xref: MEDGEN:1637913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605432 {source="MONDO:equivalentTo"}
xref: Orphanet:71289 {source="OMIM:605432"}
xref: UMLS:C4551975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637913"}
is_a: MONDO:0011555 {source="MONDO:Redundant", source="OMIM:605432"} ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
intersection_of: MONDO:0011555 ! radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5101 ! HOXA11
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5101 {source="MONDO:mim2gene_medgen"} ! HOXA11
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0024559
name: aortic aneurysm, familial thoracic 1
subset: gard_rare {source="GARD:15408", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:229"}
subset: orphanet_rare {source="Orphanet:229"}
subset: rare
synonym: "AAT1" EXACT ABBREVIATION [OMIM:607086]
synonym: "aneurysm, thoracic aortic" RELATED [OMIM:607086]
synonym: "annuloaortic ectasia" RELATED [OMIM:607086]
synonym: "aortic aneurysm, familial thoracic" RELATED [OMIM:607086]
synonym: "aortic dissection, familial" RELATED [OMIM:607086]
synonym: "Erdheim cystic medial necrosis of aorta" RELATED [OMIM:607086]
synonym: "FAA1" RELATED ABBREVIATION [OMIM:607086]
xref: GARD:15408 {source="MONDO:GARD"}
xref: MEDGEN:91038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562834 {source="MONDO:equivalentTo"}
xref: OMIM:607086 {source="MONDO:equivalentTo"}
xref: Orphanet:229 {source="MONDO:equivalentTo", source="OMIM:607086"}
xref: Orphanet:91387 {source="OMIM:607086"}
xref: UMLS:C0345050 {source="MONDO:equivalentTo", source="MEDGEN:91038", source="MONDO:MEDGEN"}
is_a: MONDO:0019625 {source="OMIM:607086"} ! familial thoracic aortic aneurysm and aortic dissection

[Term]
id: MONDO:0024560
name: PDA1
subset: gard_rare {source="GARD:7342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "patent ductus arteriosus 1" RELATED [OMIM:607411]
synonym: "patent ductus arteriosus, susceptibility to" EXACT [OMIM:607411, OMIM:genemap2]
synonym: "PDA" RELATED ABBREVIATION [OMIM:607411]
synonym: "PDA1" EXACT ABBREVIATION [OMIM:607411]
xref: GARD:7342 {source="MONDO:GARD"}
xref: MEDGEN:924232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607411 {source="MONDO:equivalentTo"}
xref: Orphanet:466729 {source="OMIM:607411"}
xref: UMLS:C4282128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:924232"}
is_a: MONDO:0011827 {source="OMIM:607411"} ! patent ductus arteriosus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024561
name: vitelliform macular dystrophy 3
def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "foveomacular dystrophy, adult-onset" RELATED [OMIM:608161]
synonym: "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization" RELATED [OMIM:608161]
synonym: "macular dystrophy, vitelliform, 3" RELATED [OMIM:608161]
synonym: "PRPH2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "vitelliform macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern]
synonym: "vitelliform macular dystrophy, adult-onset" RELATED [OMIM:608161]
synonym: "VMD3" RELATED ABBREVIATION [OMIM:608161]
xref: OMIM:608161 {source="MONDO:equivalentTo"}
xref: Orphanet:99000 {source="OMIM:608161"}
is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:608161"} ! vitelliform macular dystrophy
is_a: MONDO:0011979 ! adult-onset foveomacular vitelliform dystrophy
intersection_of: MONDO:0000390 ! vitelliform macular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 ! PRPH2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9942 {source="MONDO:mim2gene_medgen"} ! PRPH2

[Term]
id: MONDO:0024562
name: sick sinus syndrome 1
def: "Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SCN5A sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "sick sinus syndrome 1" EXACT [OMIM:608567]
synonym: "sick sinus syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern]
synonym: "sick sinus syndrome, congenital" RELATED [OMIM:608567]
synonym: "sinus bradycardia syndrome, familial" RELATED [OMIM:608567]
synonym: "sinus node disease, familial, autosomal recessive" RELATED [OMIM:608567]
synonym: "sinus rhythm, congenital absence of" RELATED [OMIM:608567]
synonym: "SSS1" RELATED ABBREVIATION [OMIM:608567]
xref: MEDGEN:325270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608567 {source="MONDO:equivalentTo"}
xref: Orphanet:166282 {source="OMIM:608567"}
xref: UMLS:C1837845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325270"}
is_a: MONDO:0012061 {source="MONDO:0024562/inferred", source="MONDO:Redundant", source="OMIM:608567"} ! familial sick sinus syndrome
intersection_of: MONDO:0012061 ! familial sick sinus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 ! SCN5A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10593 {source="MONDO:mim2gene_medgen"} ! SCN5A

[Term]
id: MONDO:0024563
name: herpes simplex encephalitis, susceptibility to, 1
def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene." [MONDO:patterns/disease_series_by_gene]
subset: predisposition
synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1" RELATED [OMIM:610551]
synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1" RELATED [OMIM:610551]
synonym: "encephalopathy, acute, infection-induced, susceptibility to, 1" RELATED [OMIM:610551]
synonym: "herpes simplex encephalitis caused by mutation in UNC93B1" EXACT [MONDO:design_pattern]
synonym: "herpes simplex encephalitis, susceptibility to, 1" EXACT [OMIM:610551]
synonym: "IIAE1" RELATED ABBREVIATION [OMIM:610551]
synonym: "UNC93B1 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:413772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610551 {source="MONDO:equivalentTo"}
xref: Orphanet:1930 {source="OMIM:610551"}
xref: UMLS:C2750180 {source="MEDGEN:413772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13481 ! UNC93B1
intersection_of: predisposes_towards MONDO:0100198 ! Mendelian encephalopathy
relationship: excluded_subClassOf MONDO:0000166 {source="MONDO:Redundant", source="OMIM:610551", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced
relationship: excluded_subClassOf MONDO:0012521 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex encephalitis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13481 {source="MONDO:mim2gene_medgen"} ! UNC93B1
relationship: predisposes_towards MONDO:0100198 {source="OMIM:610551"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0024564
name: cerebroretinal microangiopathy with calcifications and cysts 1
def: "Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebroretinal microangiopathy with calcifications and cysts" BROAD [OMIM:612199, OMIM:genemap2]
synonym: "cerebroretinal microangiopathy with calcifications and cysts 1" EXACT CLINGEN_LABEL [OMIM:612199]
synonym: "Coats plus syndrome" RELATED [OMIM:612199]
synonym: "Coats plus syndrome caused by mutation in CTC1" EXACT [MONDO:design_pattern]
synonym: "Crmcc" RELATED [OMIM:612199]
synonym: "CRMCC1" RELATED ABBREVIATION [OMIM:612199]
synonym: "CTC1 Coats plus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18441 {source="MONDO:GARD"}
xref: MEDGEN:1636142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612199 {source="MONDO:equivalentTo"}
xref: Orphanet:313838 {source="OMIM:612199"}
xref: UMLS:C4552029 {source="MEDGEN:1636142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012815 {source="MONDO:Redundant", source="OMIM:612199"} ! Coats plus syndrome
intersection_of: MONDO:0012815 ! Coats plus syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26169 ! CTC1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26169 {source="MONDO:mim2gene_medgen"} ! CTC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0024565
name: ectodermal dysplasia-syndactyly syndrome 1
def: "Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ectodermal dysplasia-syndactyly syndrome 1" EXACT [OMIM:613573]
synonym: "ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4" EXACT [MONDO:design_pattern]
synonym: "EDSS1" RELATED ABBREVIATION [OMIM:613573]
synonym: "NECTIN4 ectodermal dysplasia-syndactyly syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:462157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613573 {source="MONDO:equivalentTo"}
xref: Orphanet:247820 {source="OMIM:613573"}
xref: UMLS:C3150807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462157"}
is_a: MONDO:0013311 {source="MONDO:Redundant", source="OMIM:613573"} ! ectodermal dysplasia-syndactyly syndrome
intersection_of: MONDO:0013311 ! ectodermal dysplasia-syndactyly syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19688 ! NECTIN4
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19688 {source="MONDO:mim2gene_medgen"} ! NECTIN4

[Term]
id: MONDO:0024566
name: febrile seizures, familial, 11
subset: gard_rare {source="GARD:18283", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "convulsions, familial febrile, 11" RELATED [OMIM:614418]
synonym: "FEB11" RELATED ABBREVIATION [OMIM:614418]
synonym: "febrile seizures, familial, 11" EXACT [OMIM:614418]
xref: DOID:0111308 {source="MONDO:equivalentTo"}
xref: GARD:18283 {source="MONDO:GARD"}
xref: MEDGEN:482364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614418 {source="MONDO:equivalentTo"}
xref: Orphanet:165805 {source="OMIM:614418"}
xref: UMLS:C3280734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482364"}
is_a: MONDO:0000032 {source="MONDO:Redundant", source="OMIM:614418"} ! febrile seizures, familial
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17245 {source="MONDO:mim2gene_medgen"} ! CPA6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0024567
name: hypotonia, infantile, with psychomotor retardation and characteristic facies 1
def: "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18457", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" EXACT [OMIM:615419]
synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" EXACT [MONDO:design_pattern]
synonym: "Ihprf" RELATED [OMIM:615419]
synonym: "IHPRF1" RELATED ABBREVIATION [OMIM:615419]
synonym: "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: GARD:18457 {source="MONDO:GARD"}
xref: MEDGEN:815784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615419 {source="MONDO:equivalentTo"}
xref: Orphanet:371364 {source="OMIM:615419"}
xref: UMLS:C3809454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815784"}
is_a: MONDO:0014176 {source="MONDO:Redundant", source="OMIM:615419"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies
intersection_of: MONDO:0014176 ! hypotonia, infantile, with psychomotor retardation and characteristic facies
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19082 ! NALCN
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19082 {source="MONDO:mim2gene_medgen"} ! NALCN

[Term]
id: MONDO:0024568
name: infantile liver failure syndrome 1
def: "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:13114", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:370088"}
subset: orphanet_rare {source="Orphanet:370088"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acute infantile liver failure - multisystemic involvement syndrome" RELATED []
synonym: "ILFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615438]
synonym: "infantile liver failure caused by mutation in LARS" EXACT []
synonym: "infantile liver failure caused by mutation in Lars" EXACT [MONDO:design_pattern]
synonym: "infantile liver failure syndrome 1" EXACT [MONDO:Lexical, OMIM:615438]
synonym: "infantile liver failure syndrome type 1" EXACT [MONDORULE:1, OMIM:615438]
synonym: "LARS infantile liver failure" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "Lars infantile liver failure" EXACT [MONDO:design_pattern]
xref: DOID:0080717 {source="MONDO:equivalentTo"}
xref: GARD:13114 {source="MONDO:GARD"}
xref: ICD10CM:K72.0 {source="Orphanet:370088", source="Orphanet:370088/attributed", source="Orphanet:370088/ntbt"}
xref: MEDGEN:815852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615438 {source="MONDO:equivalentTo", source="Orphanet:370088", source="Orphanet:370088/e"}
xref: Orphanet:370088 {source="MONDO:equivalentTo", source="OMIM:615438"}
xref: UMLS:C3809522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815852"}
is_a: MONDO:0000001 {source="Orphanet:370088"} ! disease
is_a: MONDO:0000023 {source="DC-OMIM:615438", source="MONDO:Redundant", source="OMIM:615438"} ! infantile liver failure
intersection_of: MONDO:0000023 ! infantile liver failure
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6512 ! LARS1
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6512 {source="MONDO:mim2gene_medgen"} ! LARS1

[Term]
id: MONDO:0024569
name: optic atrophy 8
subset: gard_rare {source="GARD:16148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OPA8" EXACT ABBREVIATION [OMIM:616648]
synonym: "optic atrophy 8" EXACT [OMIM:616648]
xref: DOID:0111439 {source="MONDO:equivalentTo"}
xref: GARD:16148 {source="MONDO:GARD"}
xref: MEDGEN:898923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616648 {source="MONDO:equivalentTo"}
xref: Orphanet:1215 {source="OMIM:616648"}
xref: UMLS:C4085249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898923"}
is_a: MONDO:0014720 ! autosomal dominant optic atrophy plus syndrome
is_a: MONDO:0043878 {source="MONDO:Redundant", source="OMIM:616648"} ! hereditary optic atrophy
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:616648"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0024570
name: hyperparathyroidism 4
def: "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18256", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "familial isolated hyperparathyroidism caused by mutation in GCM2" EXACT [MONDO:design_pattern]
synonym: "GCM2 familial isolated hyperparathyroidism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "HRPT4" RELATED ABBREVIATION [OMIM:617343]
synonym: "hyperparathyroidism 4" EXACT [OMIM:617343]
synonym: "hyperparathyroidism type 4" EXACT [MONDORULE:1, OMIM:617343]
xref: GARD:18256 {source="MONDO:GARD"}
xref: MEDGEN:1386327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617343 {source="MONDO:equivalentTo"}
xref: Orphanet:99879 {source="OMIM:617343"}
xref: UMLS:C4479229 {source="MEDGEN:1386327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015027 {source="MONDO:Redundant"} ! familial isolated hyperparathyroidism
is_a: MONDO:0016166 {source="MONDO:Redundant", source="OMIM:617343"} ! hereditary hyperparathyroidism
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
intersection_of: MONDO:0015027 ! familial isolated hyperparathyroidism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4198 ! GCM2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4198 {source="MONDO:mim2gene_medgen"} ! GCM2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0024571
name: AIDS-related disorder
def: "A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome." [NCIT:C4991]
subset: otar {source="MONDO:OTAR"}
synonym: "AIDS-related complications" EXACT [NCIT:C4991]
synonym: "AIDS-related disorder" EXACT [NCIT:C4991]
synonym: "AIDS/HIV - relatedDisease associated with AIDS" EXACT [NCIT:C4991]
synonym: "disease associated with AIDS" EXACT [NCIT:C4991]
xref: EFO:0009528 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:852920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4991 {source="MONDO:equivalentTo"}
xref: UMLS:C0877121 {source="MEDGEN:852920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024572 {source="MONDO:Redundant", source="NCIT:C4991"} ! immunodeficiency-related disorder
intersection_of: MONDO:0024572 ! immunodeficiency-related disorder
intersection_of: disease_arises_from_feature MONDO:0005109 ! HIV infectious disease

[Term]
id: MONDO:0024572
name: immunodeficiency-related disorder
def: "A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation." [NCIT:C35686]
subset: otar {source="MONDO:OTAR"}
synonym: "immunodeficiency-related disorder" EXACT [NCIT:C35686]
synonym: "Immunodepression-related disorder" EXACT [NCIT:C35686]
synonym: "Immunosuppression disorders" EXACT [NCIT:C35686]
synonym: "Immunosuppression-related disorder" EXACT [NCIT:C35686]
xref: MEDGEN:232641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35686 {source="MONDO:equivalentTo"}
xref: UMLS:C1334159 {source="MEDGEN:232641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_arises_from_feature HP:0002721 ! Immunodeficiency
relationship: disease_has_location UBERON:0002405 ! immune system

[Term]
id: MONDO:0024573
name: familial hypertrophic cardiomyopathy
def: "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions." [NCIT:C84773]
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cardiomyopathy, familial hypertrophic" EXACT [OMIMPS:192600]
synonym: "familial hypertrophic cardiomyopathy" EXACT CLINGEN_LABEL [NCIT:C84773]
synonym: "familila or idiopathic hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:155]
synonym: "hereditary hypertrophic cardiomyopathy" EXACT [MONDO:patterns/hereditary]
synonym: "hypertrophic familial cardiomyopathy" EXACT [NCIT:C84773]
xref: DOID:0080326 {source="MONDO:equivalentTo"}
xref: MEDGEN:183649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D024741 {source="MONDO:equivalentTo"}
xref: NCIT:C84773 {source="MONDO:equivalentTo"}
xref: OMIMPS:192600 {source="MONDO:equivalentTo"}
xref: Orphanet:155 {source="MONDO:equivalentObsolete"}
xref: SCTID:471885006 {source="MONDO:equivalentTo"}
xref: UMLS:C0949658 {source="MEDGEN:183649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005045 {source="MESH:D024741", source="MONDO:Redundant", source="NCIT:C84773"} ! hypertrophic cardiomyopathy
intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:192600"} ! inherited

[Term]
id: MONDO:0024574
name: von Willebrand disease (hereditary or acquired)
def: "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding." [NCIT:C68677]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Von Willebrand Disease" EXACT [NORD:1831]
synonym: "von Willebrand disease" RELATED []
synonym: "von Willebrand disorder" EXACT [NCIT:C68677]
synonym: "von Willebrand's disease" EXACT [NCIT:C68677]
synonym: "VWD" EXACT ABBREVIATION []
xref: ICD10CM:D68.0 {source="MONDO:equivalentTo"}
xref: ICD9:286.4 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:22686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014842 {source="MONDO:equivalentTo"}
xref: NANDO:2200682 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C68677 {source="MONDO:equivalentTo"}
xref: SCTID:128105004 {source="MONDO:equivalentTo"}
xref: UMLS:C0042974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22686"}
is_a: MONDO:0001531 {source="MESH:D014842/inferred", source="MONDO:Redundant", source="NCIT:C68677"} ! blood coagulation disease
is_a: MONDO:0002242 {source="MESH:D014842"} ! coagulation protein disease

[Term]
id: MONDO:0024575
name: pregnancy disorder
def: "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor." [NCIT:C35169]
subset: otar {source="MONDO:OTAR"}
synonym: "complication of pregnancy or childbirth" EXACT []
synonym: "complication, pregnancy" RELATED [MESH:D011248]
synonym: "Complications, pregnancy" RELATED [MESH:D011248]
synonym: "disorder of pregnancy" EXACT [NCIT:C35169]
synonym: "disorder of pregnancy, childbirth, or puerperium" EXACT []
synonym: "pregnancy complication" RELATED [MESH:D011248]
synonym: "pregnancy disease" EXACT []
synonym: "pregnancy disorder" EXACT [NCIT:C35169]
xref: EFO:0009682 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:O00-O9A {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:O10-O16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:O20-O29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:56248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011248 {source="MONDO:equivalentTo"}
xref: NCIT:C35169 {source="MONDO:equivalentTo"}
xref: SCTID:173300003 {source="MONDO:equivalentTo"}
xref: UMLS:C0151864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56248"}
is_a: MONDO:0700003 {source="https://github.com/monarch-initiative/mondo/issues/3161", source="https://orcid.org/0000-0002-4142-7153"} ! obstetric disorder
relationship: disease_has_basis_in_disruption_of GO:0007565 ! female pregnancy
relationship: disease_has_location UBERON:0009097 ! gravid organism
relationship: excluded_subClassOf MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/652", source="https://orcid.org/0000-0001-5208-3432"} ! disease
relationship: excluded_subClassOf MONDO:0002263 {source="NCIT:C35169", source="https://orcid.org/0000-0001-5208-3432"} ! female reproductive system disorder

[Term]
id: MONDO:0024581
name: obsolete MONDO:0024581
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0024664

[Term]
id: MONDO:0024582
name: male reproductive system neoplasm
def: "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma." [NCIT:C3054]
subset: otar {source="MONDO:OTAR"}
synonym: "male reproductive organ neoplasm" EXACT []
synonym: "male reproductive organ tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "male reproductive organ tumour" EXACT OMO:0003005 []
synonym: "Male reproductive system neoplasm" EXACT [NCIT:C3054]
synonym: "Male reproductive system tumor" EXACT [NCIT:C3054]
synonym: "Male reproductive system tumour" EXACT OMO:0003005 []
synonym: "neoplasm of male reproductive organ" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of Male reproductive system" EXACT [NCIT:C3054]
synonym: "neoplasm of the Male reproductive system" EXACT [NCIT:C3054]
synonym: "tumor of male reproductive organ" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of Male reproductive system" EXACT [NCIT:C3054]
synonym: "tumor of the Male reproductive system" EXACT [NCIT:C3054]
synonym: "tumour of male reproductive organ" EXACT OMO:0003005 []
synonym: "tumour of Male reproductive system" EXACT OMO:0003005 []
synonym: "tumour of the Male reproductive system" EXACT OMO:0003005 []
xref: ICD10CM:C60-C63 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:42196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3054 {source="MONDO:equivalentTo"}
xref: SCTID:126895004 {source="MONDO:equivalentTo"}
xref: UMLS:C0017417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42196"}
is_a: MONDO:0003150 {source="MONDO:Redundant", source="NCIT:C3054"} ! male reproductive system disorder
is_a: MONDO:0006054 {source="MONDO:Redundant", source="NCIT:C3054"} ! reproductive system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003135 ! male reproductive organ

[Term]
id: MONDO:0024583
name: obsolete hernia
def: "OBSOLETE. The protrusion of part of an organ or fibroadipose tissue through an abnormal opening." [NCIT:C34685]
comment: Represents finding.
synonym: "enterocele" NARROW [MESH:D006547]
synonym: "hernias" RELATED [MESH:D006547]
xref: ICD10CM:K40-K46 {source="MONDO:obsoleteEquivalent"}
xref: MESH:D006547 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C34685 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1777" xsd:anyURI
is_obsolete: true
consider: HP:0100790

[Term]
id: MONDO:0024597
name: obsolete CD3epsilon deficiency
is_obsolete: true
replaced_by: MONDO:0014278

[Term]
id: MONDO:0024607
name: congenital muscular dystrophy with cataracts and intellectual disability
def: "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13." [DOID:0080197]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MDCCAID" RELATED ABBREVIATION [OMIM:617404]
synonym: "muscular dystrophy, congenital, with cataracts and intellectual disability" RELATED [OMIM:617404]
xref: DOID:0080197 {source="MONDO:equivalentTo"}
xref: MEDGEN:1382291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617404 {source="DOID:0080197", source="MONDO:equivalentTo"}
xref: UMLS:C4479410 {source="MEDGEN:1382291", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019950 {source="DOID:0080197"} ! congenital muscular dystrophy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0024608
name: dientamoebiasis
def: "Gastrointestinal infection with organisms of the genus dientamoeba." [MESH:D004030]
synonym: "Dientamoeba caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Dientamoeba disease or disorder" EXACT []
synonym: "Dientamoeba infectious disease" EXACT []
synonym: "Dientamoebiases" RELATED [MESH:D004030]
synonym: "intestinal trichomoniasis" EXACT [DOID:946]
xref: DOID:946 {source="MONDO:equivalentTo"}
xref: MEDGEN:41551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004030 {source="MONDO:equivalentTo", source="DOID:946"}
xref: SCTID:67915005 {source="MONDO:equivalentTo"}
xref: UMLS:C0012147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41551"}
is_a: MONDO:0002428 {source="DOID:946", source="MESH:D004030"} ! protozoa infectious disease
is_a: MONDO:0024270 {source="MESH:D004030"} ! parasitic intestinal disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:43351 ! Dientamoeba

[Term]
id: MONDO:0024609
name: vulvar squamous cell carcinoma
def: "An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)" [NCIT:C4052]
subset: gard_rare {source="GARD:22005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:494448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of the vulva" EXACT [NCIT:C4052]
synonym: "epidermoid carcinoma of vulva" EXACT [NCIT:C4052]
synonym: "epidermoid cell carcinoma of the vulva" EXACT [NCIT:C4052]
synonym: "epidermoid cell carcinoma of vulva" EXACT [NCIT:C4052]
synonym: "mammalian vulva squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "squamous cell carcinoma of the vulva" EXACT [NCIT:C4052]
synonym: "squamous cell carcinoma of vulva" EXACT [DOID:2101, NCIT:C4052]
synonym: "vulva epidermoid carcinoma" EXACT [NCIT:C4052]
synonym: "vulva epidermoid cell carcinoma" EXACT [NCIT:C4052]
synonym: "vulva squamous cell carcinoma" EXACT [MONDO:0002210, NCIT:C4052]
synonym: "vulvar epidermoid carcinoma" EXACT [DOID:2101, NCIT:C4052]
synonym: "vulvar epidermoid cell carcinoma" EXACT [NCIT:C4052]
synonym: "vulvar squamous cell cancer" EXACT [NCIT:C4052]
synonym: "vulvar squamous cell carcinoma" EXACT [DOID:2101, MONDO:0006492, NCIT:C4052]
xref: DOID:2101 {source="MONDO:equivalentTo"}
xref: EFO:1000624 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22005 {source="MONDO:GARD"}
xref: icd11.foundation:146824338 {source="MONDO:equivalentTo", source="Orphanet:494448", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:79201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4052 {source="DOID:2101", source="MONDO:equivalentTo", source="EFO:1000624"}
xref: Orphanet:494448 {source="MONDO:equivalentTo"}
xref: SCTID:254895003 {source="DOID:2101", source="MONDO:equivalentTo"}
xref: UMLS:C0280856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79201"}
is_a: MONDO:0002195 {source="MONDO:Redundant", source="NCIT:C4052"} ! vulvar squamous neoplasm
is_a: MONDO:0005096 {source="DOID:2101", source="EFO:1000624", source="MONDO:Redundant", source="NCIT:C4052"} ! squamous cell carcinoma
is_a: MONDO:0005215 {source="DOID:2101", source="EFO:1000624", source="MONDO:Redundant", source="NCIT:C4052", source="Orphanet:494448"} ! vulvar carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0024610
name: parasitic skin disorder
def: "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites." [MESH:D012876]
synonym: "disease, parasitic skin" RELATED [MESH:D012876]
synonym: "diseases, parasitic skin" RELATED [MESH:D012876]
synonym: "parasitic skin disease" EXACT [MESH:D012876]
synonym: "parasitic skin diseases" RELATED [MESH:D012876]
synonym: "skin disease, parasitic" RELATED [MESH:D012876]
xref: MEDGEN:20780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012876 {source="MONDO:equivalentTo"}
xref: UMLS:C0037280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20780"}
is_a: MONDO:0005135 {source="MESH:D012876", source="MONDO:Redundant"} ! parasitic infectious disease
is_a: MONDO:0024294 {source="MESH:D012876", source="MONDO:Redundant"} ! skin disorder caused by infection
intersection_of: MONDO:0005135 ! parasitic infectious disease
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0024611
name: orbit neoplasm
def: "A benign or malignant neoplasm that affects the orbit." [NCIT:C3290]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of orbit" EXACT [NCIT:C3290]
synonym: "neoplasm of orbit of skull" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of the orbit" EXACT [NCIT:C3290]
synonym: "orbit neoplasm" EXACT [NCIT:C3290]
synonym: "orbit of skull neoplasm" EXACT []
synonym: "orbit of skull tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "orbit of skull tumour" EXACT OMO:0003005 []
synonym: "orbit tumor" EXACT [NCIT:C3290]
synonym: "orbit tumour" EXACT OMO:0003005 []
synonym: "orbital neoplasm" EXACT [NCIT:C3290]
synonym: "orbital neoplasms" EXACT [NCIT:C3290]
synonym: "orbital tumor" EXACT [NCIT:C3290]
synonym: "orbital tumour" EXACT OMO:0003005 []
synonym: "tumor of orbit" EXACT [NCIT:C3290]
synonym: "tumor of orbit of skull" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of the orbit" EXACT [NCIT:C3290]
synonym: "tumour of orbit" EXACT OMO:0003005 []
synonym: "tumour of orbit of skull" EXACT OMO:0003005 []
synonym: "tumour of the orbit" EXACT OMO:0003005 []
xref: MEDGEN:18190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3290 {source="MONDO:equivalentTo"}
xref: UMLS:C0029185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18190"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001697 ! orbit of skull

[Term]
id: MONDO:0024612
name: manic bipolar affective disorder
def: "The manic phase of bipolar disorder." [NCIT:C34805]
synonym: "bipolar affective disorder, current episode manic" EXACT []
synonym: "manic bipolar affective disorder" EXACT [NCIT:C34805]
synonym: "manic-depressive - now manic" RELATED []
xref: MEDGEN:7460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34805 {source="MONDO:equivalentTo"}
xref: SCTID:191618007 {source="MONDO:equivalentTo"}
xref: UMLS:C0024713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7460"}
is_a: MONDO:0004985 {source="NCIT:C34805"} ! bipolar disorder

[Term]
id: MONDO:0024613
name: bipolar depression
def: "The depressive stage of bipolar disorder." [NCIT:C34424]
synonym: "bipolar affective disorder, current episode depression" EXACT []
synonym: "bipolar depression" EXACT [NCIT:C34424]
synonym: "manic-depressive - now depressed" RELATED []
xref: MEDGEN:585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34424 {source="MONDO:equivalentTo"}
xref: SCTID:191627008 {source="MONDO:equivalentTo"}
xref: UMLS:C0005587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:585"}
is_a: MONDO:0002050 {source="NCIT:C34424"} ! depressive disorder
is_a: MONDO:0004985 {source="NCIT:C34424"} ! bipolar disorder

[Term]
id: MONDO:0024614
name: neurotic depression
def: "A term used for any state of depression that is not psychotic." [NCIT:C35369]
synonym: "neurotic depression" EXACT [NCIT:C35369]
xref: MEDGEN:76370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35369 {source="MONDO:equivalentTo"}
xref: UMLS:C0282126 {source="MONDO:equivalentTo", source="MEDGEN:76370", source="MONDO:MEDGEN"}
is_a: MONDO:0002050 {source="NCIT:C35369"} ! depressive disorder

[Term]
id: MONDO:0024615
name: T-cell and NK-cell neoplasm
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "T-cell and NK-cell neoplasm" EXACT [NCIT:C27908]
synonym: "T-cell neoplasm" EXACT [NCIT:C27908]
xref: MEDGEN:277781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27908 {source="MONDO:equivalentTo"}
xref: UMLS:C1336554 {source="MEDGEN:277781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005157 {source="NCIT:C27908"} ! lymphoid neoplasm

[Term]
id: MONDO:0024616
name: tympanitis
def: "An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane." [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of tympanic membrane" EXACT []
synonym: "myringitis" EXACT []
synonym: "tympanic membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: MEDGEN:507971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14852000 {source="MONDO:equivalentTo"}
xref: UMLS:C0027134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:507971"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002364 ! tympanic membrane

[Term]
id: MONDO:0024617
name: xanthogranuloma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "xanthogranuloma" EXACT [NCIT:C27302]
xref: MEDGEN:1718640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27302 {source="MONDO:equivalentTo"}
xref: SCTID:189099001 {source="MONDO:equivalentTo"}
xref: UMLS:C5239388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718640"}
is_a: MONDO:0015531 {source="https://orcid.org/0000-0002-6601-2165"} ! non-Langerhans cell histiocytosis

[Term]
id: MONDO:0024618
name: poliovirus infection
def: "An disease or disorder caused by infection with Enterovirus C." [MONDO:patterns/specific_infectious_disease_by_agent]
comment: Editor note: TODO placeholder class for poliovirus in NCIT
subset: otar {source="MONDO:OTAR"}
synonym: "Enterovirus C caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Enterovirus C disease or disorder" EXACT []
synonym: "Enterovirus C infectious disease" EXACT []
synonym: "human poliovirus infection" EXACT []
synonym: "infection caused by human poliovirus" EXACT []
xref: MEDGEN:928804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:721764008 {source="MONDO:equivalentTo"}
xref: UMLS:C4303135 {source="MEDGEN:928804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 ! infectious disease
is_a: MONDO:0005747 {source="MESH:D011051", source="MONDO:Redundant"} ! enterovirus infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:138950 ! disease has primary infectious agent Enterovirus C
relationship: disease_has_infectious_agent NCBITaxon:138950 ! Enterovirus C

[Term]
id: MONDO:0024619
name: central nervous system infectious disorder
def: "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis." [NCIT:C27582]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "central nervous system infection" RELATED [MESH:D002494]
synonym: "central nervous system infectious disease" EXACT [MONDO:patterns/location, NCIT:C27582]
synonym: "central nervous system infectious disorder" EXACT [NCIT:C27582]
synonym: "infections, central nervous system" RELATED [MESH:D002494]
synonym: "infectious disease of central nervous system" EXACT [MONDO:0021684, NCIT:C27582]
xref: EFO:1001456 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:A80-A89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1684837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002494 {source="MONDO:equivalentTo"}
xref: NCIT:C27582 {source="MONDO:equivalentTo"}
xref: SCTID:128117002 {source="MONDO:equivalentTo"}
xref: UMLS:C4759823 {source="MEDGEN:1684837", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002602 {source="MESH:D002494", source="MONDO:Redundant", source="NCIT:C27582/inferred"} ! central nervous system disorder
is_a: MONDO:0020010 {source="MONDO:Redundant", source="NCIT:C27582"} ! infectious disorder of the nervous system
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0024620
name: meningitis caused by poliovirus
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningitis caused by human poliovirus" EXACT []
synonym: "polio virus meningitis" RELATED []
xref: MEDGEN:928803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:721765009 {source="MONDO:equivalentTo"}
xref: UMLS:C4303134 {source="MEDGEN:928803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004796 {source="MONDO:Redundant"} ! infectious meningitis
intersection_of: MONDO:0021108 ! meningitis
intersection_of: MONDO:0024618 ! poliovirus infection

[Term]
id: MONDO:0024621
name: serous cystadenocarcinoma
def: "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." [NCIT:C3778]
subset: otar {source="MONDO:OTAR"}
synonym: "serous adenocarcinoma" BROAD [NCIT:C3778]
synonym: "serous cystadenocarcinoma" EXACT [NCIT:C3778]
xref: ICDO:8441/3 {source="NCIT:C3778"}
xref: MEDGEN:60212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3778 {source="MONDO:equivalentTo"}
xref: UMLS:C0206701 {source="MEDGEN:60212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005278 {source="MONDO:Redundant", source="NCIT:C3778"} ! serous adenocarcinoma
is_a: MONDO:0005596 {source="MONDO:Redundant", source="NCIT:C3778"} ! cystadenocarcinoma
intersection_of: MONDO:0005278 {source="NCIT:C3778"} ! serous adenocarcinoma
intersection_of: MONDO:0005596 {source="NCIT:C3778"} ! cystadenocarcinoma

[Term]
id: MONDO:0024622
name: thyroid gland adenocarcinoma
def: "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation)." [NCIT:C27380]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "thyroid adenocarcinoma" EXACT [NCIT:C27380]
synonym: "thyroid gland adenocarcinoma" EXACT [NCIT:C27380]
xref: DOID:0080524 {source="MONDO:equivalentTo"}
xref: MEDGEN:309935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27380 {source="MONDO:equivalentTo"}
xref: UMLS:C1704228 {source="MEDGEN:309935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004970 {source="MONDO:Redundant", source="NCIT:C27380"} ! adenocarcinoma
is_a: MONDO:0015075 {source="MONDO:Redundant", source="NCIT:C27380"} ! thyroid gland carcinoma
is_a: MONDO:0021069 {source="NCIT:C27380"} ! malignant endocrine neoplasm
intersection_of: MONDO:0004970 ! adenocarcinoma
intersection_of: disease_has_location UBERON:0002046 ! thyroid gland

[Term]
id: MONDO:0024623
name: otorhinolaryngologic disease
def: "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." [MESH:D010038]
comment: Editor note: consider uberon class
subset: rare_grouping
synonym: "disease, ENT" RELATED [MESH:D010038]
synonym: "disease, otolaryngologic" RELATED [MESH:D010038]
synonym: "disease, otolaryngological" RELATED [MESH:D010038]
synonym: "disease, otorhinolaryngologic" RELATED [MESH:D010038]
synonym: "disease, otorhinolaryngological" RELATED [MESH:D010038]
synonym: "diseases, ENT" RELATED [MESH:D010038]
synonym: "diseases, otolaryngologic" RELATED [MESH:D010038]
synonym: "diseases, otolaryngological" RELATED [MESH:D010038]
synonym: "diseases, otorhinolaryngologic" RELATED [MESH:D010038]
synonym: "diseases, otorhinolaryngological" RELATED [MESH:D010038]
synonym: "ear, nose and throat disorder" EXACT []
synonym: "ear, nose or throat disorder" EXACT []
synonym: "ear/nose/throat disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "ENT disease" RELATED [MESH:D010038]
synonym: "ENT diseases" RELATED [MESH:D010038]
synonym: "otolaryngologic disease" RELATED [MESH:D010038]
synonym: "otolaryngologic diseases" RELATED [MESH:D010038]
synonym: "otolaryngologic disorder" EXACT [NCIT:C118420]
synonym: "otolaryngological disease" RELATED [MESH:D010038]
synonym: "otolaryngological diseases" RELATED [MESH:D010038]
synonym: "otorhinolaryngologic disease" EXACT [MESH:D010038]
synonym: "otorhinolaryngological disease" RELATED [MESH:D010038]
synonym: "otorhinolaryngological diseases" RELATED [MESH:D010038]
xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:583054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010038 {source="MONDO:equivalentTo"}
xref: NANDO:1100015 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C118420 {source="MONDO:equivalentTo"}
xref: SCTID:232208008 {source="MONDO:equivalentTo"}
xref: UMLS:C0395797 {source="MEDGEN:583054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="NCIT:C118420/inferred"} ! disease
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease
relationship: disease_has_location UBERON:0007811 ! craniocervical region

[Term]
id: MONDO:0024624
name: obsolete atrophy of lacrimal gland
def: "OBSOLETE. A degenerative disorder that involves the lacrimal gland." [MONDO:patterns/location]
comment: This is not a true disease, more of a phenotype or process.
synonym: "atrophy of lacrimal gland" EXACT []
synonym: "degenerative disorder of lacrimal gland" EXACT []
synonym: "lacrimal atrophy" RELATED []
synonym: "lacrimal gland degenerative disorder" EXACT [MONDO:patterns/location]
xref: SCTID:91951001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2312" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0024625
name: disorder of lacrimal gland
def: "A disease that involves the lacrimal gland." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of lacrimal gland" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lacrimal gland" EXACT []
synonym: "disorder of lacrimal gland" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "lacrimal gland disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lacrimal gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:536365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95766002 {source="MONDO:equivalentTo"}
xref: UMLS:C0235228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536365"}
is_a: MONDO:0001854 {source="MONDO:Redundant"} ! lacrimal apparatus disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland

[Term]
id: MONDO:0024626
name: defective phagocytic cell engulfment
synonym: "defective phagocytic cell killing" EXACT []
xref: MEDGEN:585050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:234585008 {source="MONDO:equivalentTo"}
xref: UMLS:C0398742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:585050"}
is_a: MONDO:0024627 {source="MONDO:Redundant"} ! phagocytic cell dysfunction
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0006911 ! phagocytosis, engulfment

[Term]
id: MONDO:0024627
name: phagocytic cell dysfunction
synonym: "defective phagocytosis" EXACT []
synonym: "phagocytic cell dysfunction" EXACT []
xref: MEDGEN:585044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:302874002 {source="MONDO:equivalentTo"}
xref: UMLS:C0398732 {source="MEDGEN:585044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0006909 ! phagocytosis
relationship: disease_has_basis_in_dysfunction_of CL:0000234 ! phagocyte

[Term]
id: MONDO:0024630
name: defective phagocytic cell chemotaxis
synonym: "defective phagocytic cell chemotaxis" EXACT []
xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:585047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:234580003 {source="MONDO:equivalentTo"}
xref: UMLS:C0398735 {source="MONDO:equivalentTo", source="MEDGEN:585047", source="MONDO:MEDGEN"}
is_a: MONDO:0024627 {source="MONDO:Redundant"} ! phagocytic cell dysfunction
intersection_of: MONDO:0024627 ! phagocytic cell dysfunction
intersection_of: disease_disrupts GO:0006935 ! chemotaxis

[Term]
id: MONDO:0024632
name: defective phagocytic cell opsonization
synonym: "defective phagocytic cell opsonization" EXACT []
xref: MEDGEN:585045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:234578009 {source="MONDO:equivalentTo"}
xref: UMLS:C0398733 {source="MEDGEN:585045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024627 {source="MONDO:Redundant"} ! phagocytic cell dysfunction
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0008228 ! opsonization

[Term]
id: MONDO:0024633
name: hypertensive nephropathy
def: "Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria." [NCIT:C4757]
subset: otar {source="MONDO:OTAR"}
synonym: "HNP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608026]
synonym: "hypertensive nephropathy" EXACT [MONDO:Lexical, NCIT:C4757, OMIM:608026]
synonym: "hypertensive renal disease" EXACT []
xref: ICD9:403.90 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:167258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563161 {source="MONDO:equivalentTo"}
xref: NCIT:C4757 {source="MONDO:equivalentTo"}
xref: OMIM:608026 {source="MONDO:equivalentTo"}
xref: SCTID:38481006 {source="MONDO:equivalentTo"}
xref: UMLS:C0848548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167258"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0005240 ! kidney disorder
intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3600" xsd:anyURI

[Term]
id: MONDO:0024634
name: large intestine disorder
def: "A disease that involves the large intestine." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of large intestine" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of large intestine" EXACT []
synonym: "disorder of large intestine" EXACT [MONDO:patterns/location_top]
synonym: "large intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:574315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:119523007 {source="MONDO:equivalentTo"}
xref: UMLS:C0341321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574315"}
is_a: MONDO:0005020 {source="MONDO:Redundant"} ! intestinal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0024635
name: small intestine disorder
def: "A disease that involves the small intestine." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of small intestine" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of small intestine" EXACT []
synonym: "disorder of small intestine" EXACT [MONDO:patterns/location_top]
synonym: "small intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:574283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:119522002 {source="MONDO:equivalentTo"}
xref: UMLS:C0341268 {source="MEDGEN:574283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="MONDO:Redundant"} ! intestinal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0024636
name: inflammation of heart layer
def: "An inflammatory disease involving a pathogenic inflammatory response in the heart layer." [MONDO:patterns/inflammatory_disease_by_site]
subset: otar {source="MONDO:OTAR"}
synonym: "carditis" EXACT []
synonym: "heart layer inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: ICD9:429.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:163689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:399617002 {source="MONDO:equivalentTo"}
xref: UMLS:C0869523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163689"}
is_a: MONDO:0005267 {source="MONDO:Redundant"} ! heart disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0005983 ! heart layer

[Term]
id: MONDO:0024637
name: malignant soft tissue neoplasm
def: "A malignant neoplasm arising exclusively from the soft tissues." [NCIT:C4867]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant neoplasm of soft tissue" EXACT [NCIT:C4867]
synonym: "malignant neoplasm of the soft tissue" EXACT [NCIT:C4867]
synonym: "malignant soft tissue neoplasm" EXACT [NCIT:C4867]
synonym: "malignant soft tissue tumor" EXACT [NCIT:C4867]
synonym: "malignant soft tissue tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of soft tissue" EXACT [NCIT:C4867]
synonym: "malignant tumor of the soft tissue" EXACT [NCIT:C4867]
synonym: "malignant tumour of soft tissue" EXACT OMO:0003005 []
synonym: "malignant tumour of the soft tissue" EXACT OMO:0003005 []
xref: ICD10CM:C45-C49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1632429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4867 {source="MONDO:equivalentTo"}
xref: SCTID:269469005 {source="MONDO:equivalentTo"}
xref: UMLS:C4551686 {source="MEDGEN:1632429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 ! cancer
is_a: MONDO:0006424 {source="NCIT:C4867"} ! soft tissue neoplasm

[Term]
id: MONDO:0024638
name: pancreatic gastrinoma
def: "A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." [NCIT:C95596]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "pancreatic gastrinoma" EXACT [NCIT:C95596]
xref: NCIT:C95596 {source="MONDO:equivalentTo"}
is_a: MONDO:0003525 {source="MONDO:Redundant", source="NCIT:C95596"} ! pancreatic gastrin-producing neuroendocrine tumor
is_a: MONDO:0023206 {source="MONDO:Redundant", source="NCIT:C95596"} ! functional pancreatic neuroendocrine tumor
intersection_of: MONDO:0003525 {source="NCIT:C95596"} ! pancreatic gastrin-producing neuroendocrine tumor
intersection_of: MONDO:0023206 {source="NCIT:C95596"} ! functional pancreatic neuroendocrine tumor
intersection_of: disease_has_feature MONDO:0019610 {source="NCIT:C95596"} ! Zollinger-Ellison syndrome

[Term]
id: MONDO:0024639
name: gastric enterochromaffin cell serotonin-producing neuroendocrine tumor
def: "A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome." [NCIT:C27443]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gastric EC cell serotonin-producing NET" EXACT [NCIT:C27443]
synonym: "gastric EC-cell serotonin-producing neuroendocrine tumor" EXACT [NCIT:C27443]
synonym: "gastric EC-cell serotonin-producing neuroendocrine tumour" EXACT OMO:0003005 []
synonym: "gastric enterochromaffin cell serotonin-producing neuroendocrine tumor" EXACT [NCIT:C27443]
xref: MEDGEN:475770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27443 {source="MONDO:equivalentTo"}
xref: UMLS:C3274137 {source="MEDGEN:475770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015062 {source="NCIT:C27443"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade

[Term]
id: MONDO:0024642
name: gastric neuroendocrine tumor G2
def: "A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent." [NCIT:C95880]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gastric NET G2" EXACT [NCIT:C95880]
synonym: "gastric neuroendocrine tumor G2" EXACT [NCIT:C95880]
xref: MEDGEN:474040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95880 {source="MONDO:equivalentTo"}
xref: UMLS:C3272407 {source="MEDGEN:474040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015062 {source="NCIT:C95880"} ! gastric neuroendocrine tumor, well differentiated, low or intermediate grade
intersection_of: MONDO:0019496 {source="NCIT:C95880"} ! neuroendocrine neoplasm
intersection_of: disease_has_location UBERON:0000945 {source="NCIT:C95880"} ! stomach
intersection_of: has_characteristic MONDO:0024492 {source="NCIT:C95880"} ! tumor grade 2, general grading system

[Term]
id: MONDO:0024643
name: myocardial disorder
def: "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy." [NCIT:C35544]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of myocardium" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of myocardium" EXACT []
synonym: "disorder of heart muscle" RELATED []
synonym: "disorder of myocardium" EXACT [MONDO:patterns/location_top]
synonym: "myocardial disease" EXACT []
synonym: "myocardial disorder" EXACT [NCIT:C35544]
synonym: "myocardium disease" EXACT [MONDO:design_pattern]
synonym: "myocardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:469033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35544 {source="MONDO:equivalentTo"}
xref: SCTID:57809008 {source="MONDO:equivalentTo"}
xref: UMLS:C3241958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:469033"}
is_a: MONDO:0005267 {source="MONDO:Redundant", source="NCIT:C35544/inferred"} ! heart disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002349 ! myocardium

[Term]
id: MONDO:0024644
name: myocardial ischemia
def: "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." [MESH:D017202]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, ischaemic heart" RELATED OMO:0003005 []
synonym: "disease, ischemic heart" RELATED [MESH:D017202]
synonym: "diseases, ischaemic heart" RELATED OMO:0003005 []
synonym: "diseases, ischemic heart" RELATED [MESH:D017202]
synonym: "heart disease, ischaemic" RELATED OMO:0003005 []
synonym: "heart disease, ischemic" RELATED [MESH:D017202]
synonym: "heart diseases, ischaemic" RELATED OMO:0003005 []
synonym: "heart diseases, ischemic" RELATED [MESH:D017202]
synonym: "IHD" EXACT ABBREVIATION [NCIT:C50625]
synonym: "ischaemic disease of myocardium" EXACT OMO:0003005 []
synonym: "ischaemic heart disease" EXACT OMO:0003005 []
synonym: "ischaemic heart diseases" RELATED OMO:0003005 []
synonym: "ischemia, myocardial" RELATED [MESH:D017202]
synonym: "ischemias, myocardial" RELATED [MESH:D017202]
synonym: "ischemic disease of myocardium" EXACT [MONDO:design_pattern]
synonym: "ischemic heart disease" EXACT [MESH:D017202]
synonym: "ischemic heart diseases" RELATED [MESH:D017202]
synonym: "myocardial Ischemias" RELATED [MESH:D017202]
synonym: "myocardium ischaemic disease" EXACT OMO:0003005 []
synonym: "myocardium ischemic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1001375 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:I20-I25 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:101801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017202 {source="MONDO:equivalentTo"}
xref: NANDO:2100070 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50625 {source="MONDO:equivalentTo"}
xref: SCTID:414545008 {source="MONDO:equivalentTo"}
xref: UMLS:C0151744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101801"}
is_a: MONDO:0004995 {source="EFO:1001375/inferred", source="ICD10CM:I20-I25", source="MESH:D017202/inferred", source="NCIT:C50625/inferred"} ! cardiovascular disorder
is_a: MONDO:0005267 {source="EFO:1001375/inferred", source="MESH:D017202", source="NCIT:C50625/inferred"} ! heart disorder
is_a: MONDO:0005385 {source="MESH:D017202", source="MONDO:indirect"} ! vascular disorder
is_a: MONDO:0024643 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! myocardial disorder
intersection_of: MONDO:0005053 ! ischemic disease
intersection_of: disease_has_location UBERON:0002349 ! myocardium

[Term]
id: MONDO:0024645
name: retroperitoneal neoplasm
def: "A benign or malignant neoplasm that affects the retroperitoneum." [NCIT:C3357]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of retroperitoneal space" EXACT [MONDO:patterns/neoplasm]
synonym: "retroperitoneal neoplasm" EXACT [NCIT:C3357]
synonym: "retroperitoneal space neoplasm" EXACT []
synonym: "retroperitoneal space tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "retroperitoneal space tumour" EXACT OMO:0003005 []
synonym: "tumor of retroperitoneal space" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of retroperitoneal space" EXACT OMO:0003005 []
xref: MEDGEN:48439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3357 {source="MONDO:equivalentTo"}
xref: UMLS:C0035358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48439"}
is_a: MONDO:0005070 {source="https://orcid.org/0000-0001-5208-3432"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space

[Term]
id: MONDO:0024646
name: obsolete refractory
xref: NCIT:C39752 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: HP:0031375

[Term]
id: MONDO:0024647
name: urolithiasis
def: "Stone(s) within the urinary tract." [NCIT:C114688]
subset: otar {source="MONDO:OTAR"}
synonym: "calculus" EXACT []
synonym: "kidney stone" BROAD []
synonym: "urinary stones" EXACT [NCIT:C114688]
synonym: "urolithiasis" EXACT []
xref: DOID:0080653 {source="MONDO:equivalentTo"}
xref: ICD10CM:N20-N23 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:N21 {source="MONDO:equivalentTo"}
xref: MEDGEN:141536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052878 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C114688 {source="MONDO:equivalentTo"}
xref: SCTID:95566004 {source="MONDO:equivalentTo"}
xref: UMLS:C0451641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141536"}
is_a: MONDO:0002118 {source="NCIT:C114688/inferred"} ! urinary system disorder

[Term]
id: MONDO:0024648
name: optic tract meningioma
def: "A meningioma that affects the visual pathway." [NCIT:C5587]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meningioma (disease) of optic tract" EXACT []
synonym: "meningioma of optic tract" EXACT [NCIT:C5587]
synonym: "meningioma of the optic tract" EXACT [NCIT:C5587]
synonym: "meningioma of the visual pathway" EXACT [NCIT:C5587]
synonym: "meningioma of visual pathway" EXACT [NCIT:C5587]
synonym: "optic tract meningioma" EXACT [NCIT:C5587]
synonym: "optic tract meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "visual pathway meningioma" EXACT [NCIT:C5587]
xref: MEDGEN:234991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5587 {source="MONDO:equivalentTo"}
xref: UMLS:C1336972 {source="MEDGEN:234991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0016642 ! meningioma
intersection_of: disease_has_location UBERON:0001908 ! optic tract

[Term]
id: MONDO:0024649
name: optic tract astrocytoma
def: "An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." [NCIT:C7533]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "astrocytoma (excluding glioblastoma) of optic tract" EXACT [MONDO:design_pattern]
synonym: "optic tract astrocytoma" EXACT [NCIT:C7533]
synonym: "optic tract astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location]
synonym: "visual pathway astrocytoma" EXACT [NCIT:C7533]
xref: MEDGEN:237052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7533 {source="MONDO:equivalentTo"}
xref: UMLS:C1336971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:237052"}
is_a: MONDO:0016167 {source="MONDO:Redundant", source="NCIT:C7533"} ! optic pathway glioma
is_a: MONDO:0019781 {source="NCIT:C7533"} ! astrocytoma (excluding glioblastoma)
intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma)
intersection_of: disease_has_location UBERON:0001908 ! optic tract

[Term]
id: MONDO:0024650
name: drug-induced osteoporosis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "drug-induced osteoporosis" EXACT []
xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:538336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:14651005 {source="MONDO:equivalentTo"}
xref: UMLS:C0264115 {source="MEDGEN:538336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005298 {source="MONDO:Redundant"} ! osteoporosis
intersection_of: MONDO:0005298 ! osteoporosis
intersection_of: realized_in_response_to_stimulus CHEBI:25367 ! molecule

[Term]
id: MONDO:0024651
name: corticosteroid-induced osteoporosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "osteoporosis caused by corticosteroid" RELATED []
synonym: "osteoporosis due to corticosteroid" EXACT []
xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:695753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:390833005 {source="MONDO:equivalentTo"}
xref: UMLS:C1272167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:695753"}
is_a: MONDO:0024650 {source="MONDO:Redundant"} ! drug-induced osteoporosis
intersection_of: MONDO:0005298 ! osteoporosis
intersection_of: realized_in_response_to_stimulus CHEBI:50858 ! corticosteroid

[Term]
id: MONDO:0024652
name: embryonic cyst of fallopian tube
synonym: "cyst of mesenteric remnant" RELATED []
synonym: "embryonic cyst of fallopian tube" EXACT []
xref: ICD10CM:Q50.4 {source="MONDO:equivalentTo"}
xref: MEDGEN:609068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:302954008 {source="MONDO:equivalentTo"}
xref: UMLS:C0431631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609068"}
is_a: MONDO:0000001 ! disease
relationship: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0024653
name: skull neoplasm
def: "A benign or malignant neoplasm that affects the bones and structures of the skull." [NCIT:C3375]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of skull" EXACT [MONDO:patterns/neoplasm, NCIT:C3375]
synonym: "neoplasm of the skull" EXACT [NCIT:C3375]
synonym: "skull neoplasm" EXACT [NCIT:C3375]
synonym: "skull tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3375]
synonym: "skull tumour" EXACT OMO:0003005 []
synonym: "tumor of skull" EXACT [MONDO:patterns/neoplasm, NCIT:C3375]
synonym: "tumor of the skull" EXACT [NCIT:C3375]
synonym: "tumour of skull" EXACT OMO:0003005 []
synonym: "tumour of the skull" EXACT OMO:0003005 []
xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:11457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012888 {source="MONDO:equivalentTo"}
xref: NCIT:C3375 {source="MONDO:equivalentTo"}
xref: SCTID:126538005 {source="MONDO:equivalentTo"}
xref: UMLS:C0037305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11457"}
is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3375"} ! head and neck neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003129 ! skull

[Term]
id: MONDO:0024654
name: skull disorder
def: "A non-neoplastic or neoplastic disorder that affects structures of the skull." [NCIT:C27655]
synonym: "disease of skull" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of skull" EXACT []
synonym: "disorder of skull" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "skull disease" EXACT [NCIT:C27655]
synonym: "skull disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "skull disorder" EXACT [NCIT:C27655]
xref: MEDGEN:226937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27655 {source="MONDO:equivalentTo"}
xref: SCTID:118945008 {source="MONDO:equivalentTo"}
xref: UMLS:C1290854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226937"}
is_a: MONDO:0005381 ! bone disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0003129 ! skull

[Term]
id: MONDO:0024655
name: rheumatic pericarditis
synonym: "rheumatic pericarditis" EXACT []
xref: MEDGEN:538808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28381002 {source="MONDO:equivalentTo"}
xref: UMLS:C0264747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538808"}
is_a: MONDO:0005904 {source="MONDO:Redundant"} ! pericarditis
is_a: MONDO:0006955 {source="MONDO:Redundant"} ! rheumatic heart disease
intersection_of: MONDO:0006955 ! rheumatic heart disease
intersection_of: disease_has_inflammation_site UBERON:0002407 ! pericardium

[Term]
id: MONDO:0024656
name: colorectal lymphoma
def: "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C96498]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "colorectal lymphoma" EXACT [NCIT:C96498]
synonym: "large intestinal lymphoma" EXACT [NCIT:C96498]
synonym: "large intestine lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "lymphoma of large intestine" EXACT [MONDO:design_pattern]
synonym: "primary colorectal lymphoma" EXACT [NCIT:C96498]
xref: MEDGEN:474455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96498 {source="MONDO:equivalentTo"}
xref: UMLS:C3272822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474455"}
is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C96498"} ! gastrointestinal lymphoma
is_a: MONDO:0005575 {source="NCIT:C96498"} ! colorectal cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0024657
name: obsolete macrocystic neurilemmoma
comment: The DO class refers to macrocystic neurilemma but this is possibly a typo as the equivalent NCIT and UMLS class is microcystic
xref: DOID:3203 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C5321 {source="MONDO:relatedTo", source="DOID:3203"}
is_obsolete: true
consider: MONDO:0002556

[Term]
id: MONDO:0024658
name: extrahepatic bile duct sarcoma
def: "A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." [NCIT:C5029]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "extrahepatic bile duct sarcoma" EXACT [NCIT:C5029]
synonym: "sarcoma of extrahepatic bile duct" EXACT [MONDO:patterns/sarcoma, NCIT:C5029]
synonym: "sarcoma of the extrahepatic bile duct" EXACT [NCIT:C5029]
xref: MEDGEN:473546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5029 {source="MONDO:equivalentTo"}
xref: UMLS:C2205442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473546"}
is_a: MONDO:0018078 {source="NCIT:C5029"} ! soft tissue sarcoma
is_a: MONDO:0021321 {source="MONDO:Redundant", source="NCIT:C5029"} ! malignant tumor of extrahepatic bile duct
intersection_of: MONDO:0005089 ! sarcoma
intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct

[Term]
id: MONDO:0024659
name: colorectal Kaposi sarcoma
def: "A Kaposi sarcoma that arises from the colon or rectum." [NCIT:C96510]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "colorectal Kaposi sarcoma" EXACT [NCIT:C96510]
synonym: "Kaposi's sarcoma (disease) of large intestine" EXACT []
synonym: "large intestinal Kaposi sarcoma" EXACT [NCIT:C96510]
synonym: "large intestine Kaposi's sarcoma (disease)" EXACT [MONDO:patterns/location]
xref: MEDGEN:474466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96510 {source="MONDO:equivalentTo"}
xref: UMLS:C3272833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474466"}
is_a: MONDO:0005055 {source="MONDO:Redundant", source="NCIT:C96510"} ! Kaposi's sarcoma
intersection_of: MONDO:0005055 ! Kaposi's sarcoma
intersection_of: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0024660
name: tubular adenoma
def: "A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum." [NCIT:C4133]
subset: otar {source="MONDO:OTAR"}
synonym: "adenoma, tubular cell, benign" EXACT [NCIT:C4133]
synonym: "tubular adenoma" EXACT [NCIT:C4133]
xref: ICDO:8211/0 {source="NCIT:C4133"}
xref: MEDGEN:83123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4133 {source="MONDO:equivalentTo"}
xref: SCTID:444408007 {source="MONDO:equivalentTo"}
xref: UMLS:C0334292 {source="MEDGEN:83123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="NCIT:C4133"} ! adenoma

[Term]
id: MONDO:0024661
name: tubulovillous adenoma
def: "An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features." [NCIT:C4143]
subset: otar {source="MONDO:OTAR"}
synonym: "tubulovillous adenoma" EXACT [NCIT:C4143]
xref: ICDO:8263/0 {source="NCIT:C4143"}
xref: MEDGEN:83125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4143 {source="MONDO:equivalentTo"}
xref: UMLS:C0334307 {source="MEDGEN:83125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004972 {source="NCIT:C4143"} ! adenoma

[Term]
id: MONDO:0024662
name: colorectal tubulovillous adenoma
def: "A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." [NCIT:C5675]
subset: otar {source="MONDO:OTAR"}
synonym: "colorectal tubulovillous adenoma" EXACT [NCIT:C5675]
synonym: "large bowel tubulovillous adenoma" EXACT [NCIT:C5675]
synonym: "tubulovillous adenoma of large bowel" EXACT [NCIT:C5675]
synonym: "tubulovillous adenoma of the large bowel" EXACT [NCIT:C5675]
xref: MEDGEN:234165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5675 {source="MONDO:equivalentTo"}
xref: UMLS:C1333118 {source="MEDGEN:234165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005484 {source="MONDO:Redundant", source="NCIT:C5675"} ! colorectal adenoma
is_a: MONDO:0024661 {source="MONDO:Redundant", source="NCIT:C5675"} ! tubulovillous adenoma
intersection_of: MONDO:0005484 {source="NCIT:C5675"} ! colorectal adenoma
intersection_of: MONDO:0024661 {source="NCIT:C5675"} ! tubulovillous adenoma
relationship: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0024663
name: primary skin meningioma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "primary cutaneous meningioma" EXACT [NCIT:C5277]
synonym: "primary meningioma of skin" EXACT [NCIT:C5277]
synonym: "primary meningioma of the skin" EXACT [NCIT:C5277]
synonym: "primary skin meningioma" EXACT [NCIT:C5277]
xref: MEDGEN:235494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5277 {source="MONDO:equivalentTo"}
xref: UMLS:C1335481 {source="MEDGEN:235494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002300 {source="NCIT:C5277"} ! dermis tumor
is_a: MONDO:0004429 {source="https://orcid.org/0000-0002-6601-2165"} ! skin meningioma

[Term]
id: MONDO:0024664
name: hypertension, pregnancy-induced
def: "A hypertensive disorder that develops during pregnancy." [NCIT:C9243]
subset: otar {source="MONDO:OTAR"}
synonym: "gestational hypertension" RELATED [MESH:D046110]
synonym: "hypertension associated disorders of pregnancy" EXACT [NCIT:C9243]
synonym: "hypertension complicating pregnancy" RELATED []
synonym: "hypertension induced by pregnancy" RELATED []
synonym: "hypertension, gestational" RELATED [MESH:D046110]
synonym: "hypertension, pregnancy induced" RELATED [MESH:D046110]
synonym: "hypertension, pregnancy transient" RELATED [MESH:D046110]
synonym: "hypertension-associated pregnancy disorder" EXACT [NCIT:C9243]
synonym: "hypertensions, pregnancy induced" RELATED [MESH:D046110]
synonym: "induced hypertension, pregnancy" RELATED [MESH:D046110]
synonym: "induced Hypertensions, pregnancy" RELATED [MESH:D046110]
synonym: "pregnancy induced hypertension" RELATED [MESH:D046110]
synonym: "pregnancy transient hypertension" RELATED [MESH:D046110]
synonym: "pregnancy-induced hypertension" EXACT [MESH:D046110]
synonym: "transient hypertension, pregnancy" RELATED [MESH:D046110]
xref: ICD10CM:O10-O16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:852894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046110 {source="MONDO:equivalentTo"}
xref: NCIT:C9243 {source="MONDO:equivalentTo"}
xref: SCTID:48194001 {source="MONDO:equivalentTo"}
xref: UMLS:C0852036 {source="MEDGEN:852894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005044 {source="MESH:D046110", source="MONDO:Redundant"} ! hypertensive disorder
is_a: MONDO:0024575 {source="MESH:D046110", source="MONDO:Redundant", source="NCIT:C9243"} ! pregnancy disorder
intersection_of: MONDO:0005044 ! hypertensive disorder
intersection_of: MONDO:0024575 ! pregnancy disorder

[Term]
id: MONDO:0024665
name: indeterminate sex and/or pseudohermaphroditism
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "gynandrism" RELATED []
xref: ICD10CM:Q56 {source="MONDO:equivalentTo"}
xref: ICD9:752.7 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:712820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:268229003 {source="MONDO:equivalentTo"}
xref: UMLS:C1290455 {source="MEDGEN:712820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002145 {source="https://orcid.org/0000-0002-6601-2165"} ! disorder of sexual differentiation

[Term]
id: MONDO:0024666
name: benign epithelial skin neoplasm
def: "A form of epithelial skin neoplasm without malignant characteristics." [MONDO:patterns/benign]
subset: otar {source="MONDO:OTAR"}
synonym: "benign epithelial skin neoplasm" EXACT [NCIT:C7341]
synonym: "benign epithelial skin tumor" EXACT [NCIT:C7341]
synonym: "benign epithelial skin tumour" EXACT OMO:0003005 []
synonym: "benign skin epithelium neoplasm" EXACT [NCIT:C7341]
synonym: "benign skin epithelium tumor" EXACT [NCIT:C7341]
synonym: "benign skin epithelium tumour" EXACT OMO:0003005 []
synonym: "epithelial skin neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: MEDGEN:83395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7341 {source="MONDO:equivalentTo"}
xref: UMLS:C0345981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83395"}
is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C7341"} ! benign neoplasm of skin
is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C7341"} ! epithelial skin neoplasm
intersection_of: MONDO:0021634 ! epithelial skin neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0024673
name: skin lymphangioma
def: "A lymphangioma arising from the skin." [NCIT:C27509]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cutaneous lymphangioma" EXACT [NCIT:C27509]
synonym: "skin lymphangioma" EXACT [NCIT:C27509]
xref: MEDGEN:232399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27509 {source="MONDO:equivalentTo"}
xref: UMLS:C1333176 {source="MEDGEN:232399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002013 {source="MONDO:Redundant", source="NCIT:C27509"} ! lymphangioma
intersection_of: MONDO:0002013 ! lymphangioma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0024674
name: Pancoast syndrome
def: "A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent." [NCIT:C55815]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Pancoast syndrome" EXACT [NCIT:C55815]
synonym: "Pancoast tumor" RELATED [MESH:D010178]
synonym: "Pancoast tumour" RELATED OMO:0003005 []
synonym: "Pancoast's syndrome" EXACT []
synonym: "Pancoasts syndrome" RELATED [MESH:D010178]
synonym: "superior pulmonary sulcus syndrome" RELATED []
synonym: "syndrome, Pancoast" RELATED [MESH:D010178]
synonym: "syndrome, Pancoast's" RELATED [MESH:D010178]
synonym: "tumor, Pancoast" RELATED [MESH:D010178]
xref: MEDGEN:10553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010178 {source="MONDO:equivalentTo"}
xref: NCIT:C55815 {source="MONDO:equivalentTo"}
xref: SCTID:278065000 {source="MONDO:equivalentTo"}
xref: UMLS:C0030271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10553"}
is_a: MONDO:0021058 {source="NCIT:C55815"} ! neoplastic syndrome
relationship: disease_arises_from_feature MONDO:0006883 ! malignant superior sulcus neoplasm

[Term]
id: MONDO:0024675
name: adult kidney Wilms tumor
def: "Wilms tumor of the kidney which occurs in adults." [NCIT:C6180]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosarcoma of adult kidney" EXACT [NCIT:C6180]
synonym: "adenosarcoma of the adult kidney" EXACT [NCIT:C6180]
synonym: "adult kidney adenosarcoma" EXACT [NCIT:C6180]
synonym: "adult kidney Wilms tumor" EXACT [NCIT:C6180]
synonym: "adult nephroblastoma" EXACT [NCIT:C6180]
synonym: "adult renal adenosarcoma" EXACT [NCIT:C6180]
synonym: "adult renal Wilms tumor" EXACT [NCIT:C6180]
synonym: "adult renal Wilms tumour" EXACT OMO:0003005 []
synonym: "adult renal Wilms' tumor" EXACT [NCIT:C6180]
synonym: "adult renal Wilms' tumour" EXACT OMO:0003005 []
synonym: "kidney Wilms tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "kidney Wilms tumour of adults" EXACT OMO:0003005 []
xref: MEDGEN:231045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6180 {source="MONDO:equivalentTo"}
xref: UMLS:C1332219 {source="MONDO:equivalentTo", source="MEDGEN:231045", source="MONDO:MEDGEN"}
is_a: MONDO:0019004 {source="MONDO:Redundant", source="NCIT:C6180"} ! kidney Wilms tumor
intersection_of: MONDO:0019004 ! kidney Wilms tumor
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0024676
name: childhood kidney Wilms tumor
def: "A Wilms tumor of the kidney which occurs in children." [NCIT:C27730]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood kidney Wilms tumor" EXACT [NCIT:C27730]
synonym: "childhood renal Wilms tumor" EXACT [NCIT:C27730]
synonym: "childhood renal Wilms tumour" EXACT OMO:0003005 []
synonym: "childhood renal Wilms' tumor" EXACT [NCIT:C27730]
synonym: "childhood renal Wilms' tumour" EXACT OMO:0003005 []
synonym: "childhood Wilms tumor" EXACT [NCIT:C27730]
synonym: "childhood Wilms tumour" EXACT OMO:0003005 []
synonym: "kidney Wilms tumor" BROAD [NCIT:C27730]
synonym: "kidney Wilms tumour" BROAD OMO:0003005 []
synonym: "Wilms tumor" BROAD [NCIT:C27730]
synonym: "Wilms tumour" BROAD OMO:0003005 []
xref: MEDGEN:232073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27730 {source="MONDO:equivalentTo"}
xref: UMLS:C1333015 {source="MEDGEN:232073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002730 {source="NCIT:C27730"} ! childhood kidney neoplasm
is_a: MONDO:0019004 {source="NCIT:C27730"} ! kidney Wilms tumor

[Term]
id: MONDO:0024677
name: pancreatic insulinoma
def: "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." [NCIT:C95598]
comment: Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma. Obs reason: duplicate. This will be merged with MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoma, beta cell" RELATED [MESH:D007340]
synonym: "adenoma, beta-cell" RELATED [MESH:D007340]
synonym: "adenomas, beta-cell" RELATED [MESH:D007340]
synonym: "beta cell tumor" RELATED [MESH:D007340]
synonym: "beta cell tumour" RELATED OMO:0003005 []
synonym: "beta-cell adenoma" RELATED [MESH:D007340]
synonym: "beta-cell adenomas" RELATED [MESH:D007340]
synonym: "beta-cell tumor" RELATED [MESH:D007340]
synonym: "beta-cell tumors" RELATED [MESH:D007340]
synonym: "beta-cell tumour" RELATED OMO:0003005 []
synonym: "beta-cell tumours" RELATED OMO:0003005 []
synonym: "insulin-producing tumor of islet cells" RELATED EXCLUDE [DOID:3892]
synonym: "insulin-producing tumour of islet cells" RELATED OMO:0003005 []
synonym: "insulinoma" EXACT [NCIT:C95598]
synonym: "insulinoma tumor suppressor GENE locus" RELATED [MESH:D007340]
synonym: "insulinoma tumour suppressor GENE locus" RELATED OMO:0003005 []
synonym: "Insulinomas" RELATED [MESH:D007340]
synonym: "insuloma" RELATED [MESH:D007340]
synonym: "Insulomas" RELATED [MESH:D007340]
synonym: "islet cell adenoma" RELATED [DOID:3892]
synonym: "pancreatic insulinoma" EXACT [NCIT:C95598]
synonym: "tumor, beta-cell" RELATED [MESH:D007340]
synonym: "tumors, beta-cell" RELATED [MESH:D007340]
xref: DOID:3892 {source="MONDO:equivalentTo", source="EFO:0000549"}
xref: HP:0012197 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E16.8 {source="Orphanet:97279/ntbt", source="Orphanet:97279"}
xref: MedDRA:10022498 {source="Orphanet:97279", source="Orphanet:97279/e"}
xref: MEDGEN:43907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007340 {source="DOID:3892", source="Orphanet:97279", source="MONDO:equivalentTo", source="Orphanet:97279/e", source="EFO:0000549"}
xref: MESH:D007516 {source="DOID:3892"}
xref: NANDO:2200398 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C95598 {source="MONDO:equivalentTo"}
xref: SCTID:302822000 {source="DOID:3892", source="MONDO:equivalentTo", source="EFO:0000549"}
xref: UMLS:C0021670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43907"}
is_a: MONDO:0005048 {source="NCIT:C95598"} ! pancreatic insulin-producing neuroendocrine tumor
is_a: MONDO:0023206 {source="NCIT:C95598"} ! functional pancreatic neuroendocrine tumor
relationship: disease_has_location CL:0000168 {source="EFO:0000784"} ! insulin secreting cell
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6281" xsd:anyURI

[Term]
id: MONDO:0024685
name: Philadelphia-positive myelogenous leukemia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Ph1-positive granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "Ph1-positive granulocytic leukemia" EXACT [NCIT:C3177]
synonym: "Ph1-positive myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "Ph1-positive myelocytic leukemia" EXACT [NCIT:C3177]
synonym: "Ph1-positive myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "Ph1-positive myelogenous leukemia" EXACT [NCIT:C3177]
synonym: "Ph1-positive myeloid leukaemia" EXACT OMO:0003005 []
synonym: "Ph1-positive myeloid leukemia" EXACT [NCIT:C3177]
synonym: "Philadelphia-positive granulocytic leukaemia" EXACT OMO:0003005 []
synonym: "Philadelphia-positive granulocytic leukemia" EXACT [NCIT:C3177]
synonym: "Philadelphia-positive myelocytic leukaemia" EXACT OMO:0003005 []
synonym: "Philadelphia-positive myelocytic leukemia" EXACT [NCIT:C3177]
synonym: "Philadelphia-positive myelogenous leukemia" EXACT [NCIT:C3177]
synonym: "Philadelphia-positive myeloid leukaemia" EXACT OMO:0003005 []
synonym: "Philadelphia-positive myeloid leukemia" EXACT [NCIT:C3177]
xref: MEDGEN:9731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3177 {source="MONDO:equivalentTo"}
xref: UMLS:C0023476 {source="MEDGEN:9731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004643 {source="NCIT:C3177"} ! myeloid leukemia

[Term]
id: MONDO:0024686
name: tenosynovial giant cell tumor, diffuse type
def: "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." [NCIT:C3401]
subset: gard_rare {source="GARD:7396", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1916", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:66627"}
subset: orphanet_rare {source="Orphanet:66627"}
subset: rare
synonym: "diffuse giant cell neoplasm of tendon sheath" EXACT [NCIT:C3401]
synonym: "diffuse giant cell neoplasm of Tenosynovium" EXACT [NCIT:C3401]
synonym: "diffuse giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C3401]
synonym: "diffuse giant cell tumor of tendon sheath" EXACT [NCIT:C3401]
synonym: "diffuse giant cell tumor of Tenosynovium" EXACT [DOID:2702, NCIT:C3401]
synonym: "diffuse giant cell tumor of the Tenosynovium" EXACT [NCIT:C3401]
synonym: "diffuse giant cell tumour of tendon sheath" EXACT OMO:0003005 []
synonym: "diffuse giant cell tumour of Tenosynovium" EXACT OMO:0003005 []
synonym: "diffuse giant cell tumour of the Tenosynovium" EXACT OMO:0003005 []
synonym: "diffuse pigmented villonodular synovitis" NARROW [GARD:0007396]
synonym: "diffuse tenosynovial giant cell neoplasm" EXACT [NCIT:C3401]
synonym: "diffuse tenosynovial giant cell tumor" EXACT [NCIT:C3401]
synonym: "diffuse tenosynovial giant cell tumour" EXACT OMO:0003005 []
synonym: "diffuse-type GCT" NARROW [Orphanet:66627]
synonym: "diffuse-type giant cell tumor" NARROW [Orphanet:66627]
synonym: "diffuse-type giant cell tumour" NARROW OMO:0003005 []
synonym: "localised pigmented villonodular synovitis" NARROW OMO:0003005 []
synonym: "localized pigmented villonodular synovitis" NARROW [GARD:0007396]
synonym: "pigmented villonodular synovitis" EXACT [NCIT:C3401]
synonym: "Tenosynovial Giant Cell Tumor" EXACT [NORD:1916]
synonym: "tenosynovial giant cell tumor" RELATED [Orphanet:66627]
synonym: "tenosynovial giant cell tumor diffuse type" RELATED [ONCOTREE:TGCT]
synonym: "tenosynovial giant cell tumor, diffuse type" EXACT [NCIT:C3401]
synonym: "tenosynovial giant cell tumors" RELATED [GARD:0007396]
synonym: "tenosynovial giant cell tumour" RELATED OMO:0003005 []
synonym: "tenosynovial giant cell tumour diffuse type" RELATED OMO:0003005 []
synonym: "tenosynovial giant cell tumours" RELATED OMO:0003005 []
synonym: "TGCT" EXACT ABBREVIATION [Orphanet:66627]
synonym: "TSGCT" EXACT ABBREVIATION [Orphanet:66627]
synonym: "villonodular synovitis" RELATED [DOID:9898]
synonym: "villous tenosynovitis" EXACT [DOID:2702]
xref: DOID:2702 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:1001106"}
xref: DOID:9898 {source="MONDO:equivalentTo"}
xref: GARD:7396 {source="MONDO:GARD"}
xref: ICD10CM:M12.2 {source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702", source="Orphanet:66627/e"}
xref: ICD10CM:M12.20 {source="DOID:9898"}
xref: ICD9:719.2 {source="DOID:9898"}
xref: ICD9:719.20 {source="DOID:9898", source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: ICD9:719.28 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICDO:9251/0 {source="NCIT:C3401"}
xref: MEDGEN:11691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013586 {source="MONDO:equivalentTo", source="Orphanet:66627", source="DOID:2702", source="EFO:1001106", source="Orphanet:66627/e"}
xref: NCIT:C3401 {source="MONDO:equivalentTo", source="DOID:2702"}
xref: NORD:1916 {source="MONDO:NORD"}
xref: ONCOTREE:TGCT {source="MONDO:equivalentTo"}
xref: Orphanet:66627 {source="MONDO:equivalentTo"}
xref: SCTID:202423001 {source="DOID:9898"}
xref: SCTID:202454002 {source="DOID:9898"}
xref: SCTID:202903009 {source="DOID:2702"}
xref: SCTID:34671005 {source="DOID:9898"}
xref: SCTID:703703002 {source="DOID:2702"}
xref: SCTID:71508003 {source="DOID:2702"}
xref: SCTID:95411002 {source="DOID:9898"}
xref: SCTID:95412009 {source="MONDO:equivalentTo", source="DOID:2702", source="EFO:1001106"}
xref: UMLS:C0039106 {source="MEDGEN:11691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002400 {source="DOID:2702", source="MESH:D013586"} ! synovitis
is_a: MONDO:0002522 {source="NCIT:C3401"} ! tenosynovial giant cell tumor
is_a: MONDO:0005554 {source="Orphanet:66627"} ! rheumatic disorder
is_a: MONDO:0024715 {source="NCIT:C3401"} ! benign synovial neoplasm
relationship: excluded_subClassOf MONDO:0002522 {source="EFO:1001106", source="https://orcid.org/0000-0001-5208-3432"} ! tenosynovial giant cell tumor
relationship: excluded_subClassOf MONDO:0006816 {source="DOID:9898", source="https://orcid.org/0000-0001-5208-3432"} ! arthropathy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4610" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis" xsd:anyURI {source="GARD:0007396"}

[Term]
id: MONDO:0024711
name: malignant mixed epithelial stromal tumor of the kidney
def: "A mixed epithelial stromal tumor of the kidney with malignant stromal features." [NCIT:C37265]
synonym: "malignant MEST" EXACT [NCIT:C37265]
synonym: "malignant mixed epithelial stromal tumor of the kidney" EXACT [NCIT:C37265]
synonym: "mixed epithelial stromal tumor of the kidney, malignant" EXACT [MONDO:patterns/malignant]
synonym: "mixed epithelial stromal tumour of the kidney, malignant" EXACT OMO:0003005 []
xref: MEDGEN:233156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37265 {source="MONDO:equivalentTo"}
xref: UMLS:C1334602 {source="MEDGEN:233156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002386 {source="MONDO:Redundant", source="NCIT:C37265"} ! mixed epithelial stromal tumor of the kidney
is_a: MONDO:0005853 {source="MONDO:Redundant", source="NCIT:C37265"} ! malignant mixed neoplasm
intersection_of: MONDO:0002386 ! mixed epithelial stromal tumor of the kidney
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0024715
name: benign synovial neoplasm
def: "A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath." [NCIT:C3829]
synonym: "benign neoplasm of synovium" EXACT [NCIT:C3829]
synonym: "benign neoplasm of the synovium" EXACT [NCIT:C3829]
synonym: "benign synovial neoplasm" EXACT [NCIT:C3829]
synonym: "benign synovial tumor" EXACT [NCIT:C3829]
synonym: "benign synovial tumour" EXACT OMO:0003005 []
synonym: "benign synovioma" EXACT [NCIT:C3829]
synonym: "benign synovium neoplasm" EXACT []
synonym: "benign tumor of synovium" EXACT [NCIT:C3829]
synonym: "benign tumor of the synovium" EXACT [NCIT:C3829]
synonym: "benign tumour of synovium" EXACT OMO:0003005 []
synonym: "benign tumour of the synovium" EXACT OMO:0003005 []
synonym: "synovioma, benign" EXACT [NCIT:C3829]
synonym: "synovium neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: ICDO:9040/0 {source="NCIT:C3829"}
xref: MEDGEN:113161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3829 {source="MONDO:equivalentTo"}
xref: UMLS:C0221289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113161"}
is_a: MONDO:0002528 {source="MONDO:Redundant", source="NCIT:C3829"} ! synovium neoplasm
intersection_of: MONDO:0002528 ! synovium neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0024744
name: childhood choroid plexus neoplasm
def: "A neoplasm that arises from the choroid plexus in the brain and occurs during childhood." [NCIT:C42080]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood choroid plexus neoplasm" EXACT [NCIT:C42080]
synonym: "choroid plexus neoplasm" BROAD [NCIT:C42080]
synonym: "choroid plexus neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric choroid plexus neoplasm" EXACT OMO:0003005 []
synonym: "pediatric choroid plexus neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: MEDGEN:76132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42080 {source="MONDO:equivalentTo"}
xref: UMLS:C0280623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76132"}
is_a: MONDO:0016717 {source="MONDO:Redundant", source="NCIT:C42080"} ! choroid plexus neoplasm
intersection_of: MONDO:0016717 ! choroid plexus neoplasm
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0024746
name: immature teratoma
def: "A teratoma composed of immature, fetal-type tissues." [NCIT:C4286]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "embryonal teratoma" EXACT [NCIT:C4286]
synonym: "hrade 2 Teratoma" EXACT [NCIT:C4286]
synonym: "immature teratoma" EXACT [NCIT:C4286]
xref: ICDO:9080/3 {source="NCIT:C4286"}
xref: MEDGEN:90798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200106 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4286 {source="MONDO:equivalentTo"}
xref: UMLS:C0334520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90798"}
is_a: MONDO:0002601 {source="NCIT:C4286"} ! teratoma

[Term]
id: MONDO:0024757
name: cardiovascular neoplasm
def: "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma." [NCIT:C4784]
subset: otar {source="MONDO:OTAR"}
synonym: "cardiovascular neoplasm" EXACT [NCIT:C4784]
synonym: "cardiovascular system neoplasm" EXACT []
synonym: "cardiovascular system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "cardiovascular system tumour" EXACT OMO:0003005 []
synonym: "cardiovascular tumor" EXACT [NCIT:C4784]
synonym: "cardiovascular tumour" EXACT OMO:0003005 []
synonym: "neoplasm of cardiovascular system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of cardiovascular system" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of cardiovascular system" EXACT OMO:0003005 []
xref: MEDGEN:105422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4784 {source="MONDO:equivalentTo"}
xref: SCTID:721573003 {source="MONDO:equivalentTo"}
xref: UMLS:C0497243 {source="MEDGEN:105422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004995 {source="MONDO:Redundant", source="NCIT:C4784"} ! cardiovascular disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system

[Term]
id: MONDO:0024770
name: autoinflammatory syndrome, familial, X-linked, Behcet-like 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AIFBL2" EXACT ABBREVIATION [OMIM:301074]
synonym: "autoinflammatory syndrome, familial, X-linked, Behcet-like 2" EXACT [OMIM:301074]
synonym: "deficiency 1n ELF4, X-linked" EXACT [OMIM:301074]
xref: MEDGEN:1808082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301074 {source="MONDO:equivalentTo"}
xref: UMLS:C5575495 {source="MEDGEN:1808082", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031384 {source="OMIM:301074"} ! autoinflammatory syndrome, familial, Behcet-like

[Term]
id: MONDO:0024771
name: myopathy, distal, 7, adult-onset, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MPD7" EXACT ABBREVIATION [OMIM:301075]
synonym: "myopathy, distal, 7, adult-onset, X-linked" EXACT [OMIM:301075]
xref: MEDGEN:1808663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301075 {source="MONDO:equivalentTo"}
xref: UMLS:C5676880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808663"}
is_a: MONDO:0018949 {source="OMIM:301075"} ! distal myopathy

[Term]
id: MONDO:0024772
name: intellectual developmental disorder, X-linked, syndromic, Pilorge type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked, syndromic, Pilorge type" EXACT [OMIM:301076]
synonym: "MRXSP" EXACT ABBREVIATION [OMIM:301076]
xref: DOID:0070422 {source="MONDO:equivalentTo"}
xref: MEDGEN:1803486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301076 {source="MONDO:equivalentTo"}
xref: UMLS:C5676881 {source="MEDGEN:1803486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="OMIM:301076", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0024773
name: spermatogenic failure, X-linked, 4
synonym: "spermatogenic failure, X-linked, 4" EXACT [OMIM:301077]
synonym: "SPGFX4" EXACT ABBREVIATION [OMIM:301077]
xref: MEDGEN:1804024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301077 {source="MONDO:equivalentTo"}
xref: UMLS:C5676882 {source="MEDGEN:1804024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:301077"} ! spermatogenic failure

[Term]
id: MONDO:0024777
name: immunodeficiency 98 with autoinflammation, X-linked
def: "An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:301078, PMID:33512449, PMID:34981838]
synonym: "IMD98" EXACT ABBREVIATION [OMIM:301078]
synonym: "immunodeficiency 98 with autoinflammation, X-linked" EXACT [OMIM:301078]
synonym: "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8" EXACT [OMIM:301078]
synonym: "X-linked immunodeficiency with autoinflammation" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1805285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301078 {source="MONDO:equivalentTo"}
xref: UMLS:C5676883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805285"}
is_a: MONDO:0021094 {source="OMIM:301078"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0024781
name: immunodeficiency 102
def: "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:301082, PMID:33876203]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:653751"}
subset: orphanet_rare {source="Orphanet:653751"}
subset: rare
synonym: "IMD102" EXACT ABBREVIATION [OMIM:301082]
synonym: "immunodeficiency 102" EXACT [OMIM:301082]
synonym: "SASH3 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "X-linked CID due to SASH3 deficiency" EXACT [Orphanet:653751]
synonym: "X-linked combined immunodeficiency due to SASH3 deficiency" EXACT [Orphanet:653751]
xref: MEDGEN:1812534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301082 {source="MONDO:equivalentTo"}
xref: Orphanet:653751 {source="MONDO:equivalentTo"}
xref: UMLS:C5676886 {source="MEDGEN:1812534", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:301082"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0024797
name: adult brain stem neoplasm
def: "A brainstem neoplasm that occurs in an adult." [MONDO:design_pattern]
synonym: "adult brain stem neoplasm" EXACT [NCIT:C5967]
synonym: "adult brain stem tumor" EXACT [NCIT:C5967]
synonym: "adult brain stem tumour" EXACT OMO:0003005 []
synonym: "adult brainstem neoplasm" EXACT [NCIT:C5967]
synonym: "adult brainstem tumor" EXACT [NCIT:C5967]
synonym: "adult brainstem tumour" EXACT OMO:0003005 []
synonym: "brainstem neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "neoplasm of adult brain stem" EXACT [NCIT:C5967]
synonym: "neoplasm of adult brainstem" EXACT [NCIT:C5967]
synonym: "neoplasm of the adult brain stem" EXACT [NCIT:C5967]
synonym: "neoplasm of the adult brainstem" EXACT [NCIT:C5967]
synonym: "tumor of adult brain stem" EXACT [NCIT:C5967]
synonym: "tumor of adult brainstem" EXACT [NCIT:C5967]
synonym: "tumor of the adult brain stem" EXACT [NCIT:C5967]
synonym: "tumor of the adult brainstem" EXACT [NCIT:C5967]
synonym: "tumour of adult brain stem" EXACT OMO:0003005 []
synonym: "tumour of adult brainstem" EXACT OMO:0003005 []
synonym: "tumour of the adult brain stem" EXACT OMO:0003005 []
synonym: "tumour of the adult brainstem" EXACT OMO:0003005 []
xref: MEDGEN:272292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5967 {source="MONDO:equivalentTo"}
xref: UMLS:C1332192 {source="MEDGEN:272292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021228 {source="MONDO:Redundant", source="NCIT:C5967"} ! brainstem neoplasm
intersection_of: MONDO:0021228 ! brainstem neoplasm
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0024812
name: obsolete MONDO:0024812
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4843" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0002399

[Term]
id: MONDO:0024813
name: pulmonary sulcus neoplasm
def: "A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." [NCIT:C27710]
synonym: "pulmonary sulcus neoplasm" EXACT [NCIT:C27710]
synonym: "pulmonary sulcus tumor" EXACT [NCIT:C27710]
synonym: "pulmonary sulcus tumour" EXACT OMO:0003005 []
xref: MEDGEN:277550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27710 {source="MONDO:equivalentTo"}
xref: UMLS:C1335574 {source="MEDGEN:277550", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021117 {source="NCIT:C27710"} ! lung neoplasm

[Term]
id: MONDO:0024857
name: immature extragonadal teratoma
def: "An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:C8884]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "extragonadal primary malignant teratoma" EXACT [NCIT:C8884]
synonym: "immature extragonadal teratoma" EXACT [NCIT:C8884]
synonym: "malignant extragonadal teratoma" EXACT [NCIT:C8884]
synonym: "primary malignant extragonadal teratoma" EXACT [NCIT:C8884]
xref: MEDGEN:167781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8884 {source="MONDO:equivalentTo"}
xref: UMLS:C0855163 {source="MEDGEN:167781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003578 {source="NCIT:C8884"} ! extragonadal nonseminomatous germ cell tumor
is_a: MONDO:0024746 {source="NCIT:C8884"} ! immature teratoma

[Term]
id: MONDO:0024861
name: mixed teratoma and seminoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mixed teratoma and seminoma" EXACT [NCIT:C9010]
xref: NCIT:C9010 {source="MONDO:equivalentTo"}
is_a: MONDO:0015864 {source="NCIT:C9010"} ! mixed germ cell tumor

[Term]
id: MONDO:0024863
name: small size posterior uveal melanoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "small size posterior uveal melanoma" EXACT [NCIT:C9089]
xref: MEDGEN:75883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9089 {source="MONDO:equivalentTo"}
xref: UMLS:C0278867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75883"}
is_a: MONDO:0003927 {source="https://orcid.org/0000-0001-5208-3432"} ! posterior uveal melanoma
is_a: MONDO:0006486 {source="NCIT:C9089"} ! uveal melanoma

[Term]
id: MONDO:0024864
name: medium/large size posterior uveal melanoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "medium/large size posterior uveal melanoma" EXACT [NCIT:C9090]
xref: MEDGEN:124525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9090 {source="MONDO:equivalentTo"}
xref: UMLS:C0278868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124525"}
is_a: MONDO:0003927 {source="https://orcid.org/0000-0001-5208-3432"} ! posterior uveal melanoma
is_a: MONDO:0006486 {source="NCIT:C9090"} ! uveal melanoma

[Term]
id: MONDO:0024868
name: metastatic carcinoma in the adrenal medulla
def: "A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site." [NCIT:C9276]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "metastatic carcinoma in the adrenal medulla" EXACT [NCIT:C9276]
synonym: "metastatic carcinoma to the adrenal medulla" EXACT [NCIT:C9276]
xref: MEDGEN:277362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9276 {source="MONDO:equivalentTo"}
xref: UMLS:C1334717 {source="MEDGEN:277362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003606 {source="NCIT:C9276"} ! adrenal medulla cancer
is_a: MONDO:0024879 {source="MONDO:Redundant", source="NCIT:C9276"} ! metastatic carcinoma
intersection_of: MONDO:0024879 ! metastatic carcinoma
intersection_of: disease_has_location UBERON:0001236 ! adrenal medulla

[Term]
id: MONDO:0024873
name: clitoral carcinoma
def: "A carcinoma that arises from the clitoris." [NCIT:C9362]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoma of clitoris" EXACT [MONDO:patterns/carcinoma, NCIT:C9362]
synonym: "carcinoma of the clitoris" EXACT [NCIT:C9362]
synonym: "clitoral cancer" BROAD [NCIT:C9362]
synonym: "clitoral carcinoma" EXACT [NCIT:C9362]
synonym: "clitoris carcinoma" EXACT [NCIT:C9362]
xref: MEDGEN:234155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9362 {source="MONDO:equivalentTo"}
xref: UMLS:C1333070 {source="MEDGEN:234155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002290 {source="MONDO:Redundant", source="NCIT:C9362"} ! clitoris cancer
is_a: MONDO:0005215 {source="MONDO:Redundant", source="NCIT:C9362"} ! vulvar carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0002411 ! clitoris

[Term]
id: MONDO:0024876
name: tendon sheath disorder
def: "A disease that involves the tendon sheath." [MONDO:patterns/location]
synonym: "disease of tendon sheath" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of tendon sheath" EXACT []
synonym: "disorder of tendon sheath" EXACT [MONDO:patterns/location_top]
synonym: "tendon sheath disease" EXACT []
synonym: "tendon sheath disease or disorder" EXACT [MONDO:patterns/location]
synonym: "tendon sheath disorder" EXACT []
xref: ICD9:727.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:675994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:312381009 {source="MONDO:equivalentTo"}
xref: UMLS:C0729734 {source="MEDGEN:675994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000304 ! tendon sheath

[Term]
id: MONDO:0024877
name: clitoris neoplasm
def: "A neoplasm involving a clitoris." [MONDO:patterns/neoplasm]
synonym: "clitoral neoplasm" EXACT []
synonym: "clitoris tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "clitoris tumour" EXACT OMO:0003005 []
synonym: "neoplasm of clitoris" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of clitoris" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of clitoris" EXACT OMO:0003005 []
xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:688068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:126925009 {source="MONDO:equivalentTo"}
xref: UMLS:C1263793 {source="MEDGEN:688068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021049 {source="MONDO:Redundant"} ! vulvar neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002411 ! clitoris

[Term]
id: MONDO:0024878
name: secondary carcinoma
def: "A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C36310]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
subset: otar {source="MONDO:OTAR"}
synonym: "secondary carcinoma" EXACT [NCIT:C36310]
xref: MEDGEN:88450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36310 {source="MONDO:equivalentTo"}
xref: UMLS:C0085668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88450"}
is_a: MONDO:0024881 {source="NCIT:C36310"} ! secondary malignant neoplasm
intersection_of: MONDO:0024882 ! secondary neoplasm
intersection_of: disease_arises_from_feature MONDO:0004993 ! carcinoma
relationship: disease_arises_from_structure CL:0000066 ! epithelial cell
relationship: excluded_subClassOf MONDO:0004993 {source="NCIT:C36310", source="https://orcid.org/0000-0001-5208-3432"} ! carcinoma

[Term]
id: MONDO:0024879
name: metastatic carcinoma
def: "A carcinoma which has spread from the original site of growth to another anatomic site." [NCIT:C3482]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
subset: otar {source="MONDO:OTAR"}
synonym: "metastatic carcinoma" EXACT [NCIT:C3482]
xref: ICDO:8010/6 {source="NCIT:C3482"}
xref: MEDGEN:235141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3482 {source="MONDO:equivalentTo"}
xref: UMLS:C1384494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235141"}
is_a: MONDO:0024878 {source="MONDO:Redundant", source="NCIT:C3482"} ! secondary carcinoma
is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C3482"} ! metastatic malignant neoplasm
intersection_of: MONDO:0024878 ! secondary carcinoma
intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic

[Term]
id: MONDO:0024880
name: metastatic malignant neoplasm
def: "A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site." [NCIT:C36263]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
subset: otar {source="MONDO:OTAR"}
synonym: "malignant metastatic neoplasm" EXACT []
synonym: "metastatic cancer" EXACT [NCIT:C36263]
synonym: "metastatic malignant neoplasm" EXACT [NCIT:C36263]
synonym: "metastatic neoplasm, malignant" EXACT [MONDO:patterns/malignant]
xref: MEDGEN:422475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36263 {source="MONDO:equivalentTo"}
xref: UMLS:C2939419 {source="MEDGEN:422475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024881 {source="NCIT:C36263"} ! secondary malignant neoplasm
is_a: MONDO:0024883 {source="MONDO:Redundant", source="NCIT:C36263"} ! metastatic neoplasm
intersection_of: MONDO:0024883 ! metastatic neoplasm
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0024881
name: secondary malignant neoplasm
def: "A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C4968]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
subset: otar {source="MONDO:OTAR"}
synonym: "secondary cancer" EXACT [NCIT:C4968]
synonym: "secondary malignancy" EXACT [NCIT:C4968]
synonym: "secondary malignant neoplasm" EXACT [NCIT:C4968]
xref: EFO:0009812 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:198.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:473807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4968 {source="MONDO:equivalentTo"}
xref: SCTID:128462008 {source="MONDO:equivalentTo"}
xref: UMLS:C3266877 {source="MEDGEN:473807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="NCIT:C4968"} ! cancer
is_a: MONDO:0024882 {source="NCIT:C4968"} ! secondary neoplasm

[Term]
id: MONDO:0024882
name: secondary neoplasm
def: "A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." [NCIT:C36255]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
subset: otar {source="MONDO:OTAR"}
synonym: "secondary neoplasm" EXACT [NCIT:C36255]
synonym: "secondary tumor" EXACT [NCIT:C36255]
synonym: "secondary tumour" EXACT OMO:0003005 []
xref: NCIT:C36255 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0023370 ! neoplastic disease or syndrome
intersection_of: disease_arises_from_feature MONDO:0005070 ! neoplasm

[Term]
id: MONDO:0024883
name: metastatic neoplasm
def: "A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology." [NCIT:C3261]
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.
subset: otar {source="MONDO:OTAR"}
synonym: "metastatic disease" EXACT [NCIT:C3261]
synonym: "metastatic neoplasm" EXACT [NCIT:C3261]
synonym: "metastatic tumor" EXACT [NCIT:C3261]
synonym: "metastatic tumour" EXACT OMO:0003005 []
xref: EFO:0009709 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICDO:8000/6 {source="NCIT:C3261"}
xref: MEDGEN:422476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3261 {source="MONDO:equivalentTo"}
xref: UMLS:C2939420 {source="MEDGEN:422476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0024882 ! secondary neoplasm
intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic

[Term]
id: MONDO:0024884
name: metastatic carcinoma in the bone
def: "A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate." [NCIT:C36082]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "metastatic carcinoma in the bone" EXACT [NCIT:C36082]
synonym: "metastatic carcinoma to the bone" EXACT [NCIT:C36082]
xref: MEDGEN:195970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36082 {source="MONDO:equivalentTo"}
xref: UMLS:C0700110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:195970"}
is_a: MONDO:0024879 {source="MONDO:Redundant", source="NCIT:C36082"} ! metastatic carcinoma
intersection_of: MONDO:0024879 ! metastatic carcinoma
intersection_of: disease_has_location UBERON:0002481 ! bone tissue
relationship: disease_arises_from_feature MONDO:0002415 ! bone carcinoma

[Term]
id: MONDO:0024885
name: malignant ovarian serous tumor
def: "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma." [NCIT:C40025]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "malignant ovarian serous tumor" EXACT [NCIT:C40025]
synonym: "ovarian serous tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: MEDGEN:309396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40025 {source="MONDO:equivalentTo"}
xref: UMLS:C1518234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309396"}
is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40025"} ! malignant epithelial tumor of ovary
is_a: MONDO:0037255 {source="MONDO:Redundant", source="NCIT:C40025"} ! ovarian serous tumor
intersection_of: MONDO:0037255 ! ovarian serous tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0024886
name: serous adenofibroma
def: "A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential." [NCIT:C67090]
synonym: "serous adenofibroma" EXACT [NCIT:C67090]
xref: ICDO:9014/0 {source="NCIT:C67090"}
xref: MEDGEN:87253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C67090 {source="MONDO:equivalentTo"}
xref: UMLS:C0334498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87253"}
is_a: MONDO:0006071 {source="NCIT:C67090"} ! adenofibroma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7172" xsd:anyURI

[Term]
id: MONDO:0024888
name: mesonephric neoplasm
def: "An epithelial neoplasm of the female reproductive system arising from mesonephric remnants." [NCIT:C4295]
synonym: "mesonephric duct neoplasm" EXACT []
synonym: "mesonephric duct tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "mesonephric duct tumour" EXACT OMO:0003005 []
synonym: "mesonephric neoplasm" EXACT [NCIT:C4295]
synonym: "mesonephric tumor" EXACT [NCIT:C4295]
synonym: "mesonephric tumour" EXACT OMO:0003005 []
synonym: "mesonephroma" EXACT [NCIT:C4295]
synonym: "neoplasm of mesonephric duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of mesonephric duct" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of mesonephric duct" EXACT OMO:0003005 []
synonym: "Wolffian duct neoplasm" EXACT [NCIT:C4295]
synonym: "Wolffian duct tumor" EXACT [NCIT:C4295]
synonym: "Wolffian duct tumour" EXACT OMO:0003005 []
xref: ICDO:9110/1 {source="NCIT:C4295"}
xref: MEDGEN:137779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4295 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0334531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137779"}
is_a: MONDO:0005626 {source="NCIT:C4295"} ! epithelial neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0003074 ! mesonephric duct

[Term]
id: MONDO:0024889
name: benign mesonephroma
def: "A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants." [NCIT:C4294]
synonym: "benign mesonephric neoplasm" EXACT []
synonym: "benign Mesonephroma" EXACT [NCIT:C4294]
synonym: "mesonephric adenoma" EXACT [DOID:2616, NCIT:C4294]
synonym: "mesonephric duct adenoma" EXACT [MONDO:patterns/location]
synonym: "mesonephric neoplasm, benign" EXACT [MONDO:patterns/benign]
synonym: "Mesonephroma, benign" EXACT [DOID:2616]
synonym: "Mesonephroma, benign (morphologic abnormality)" EXACT [DOID:2616]
synonym: "Wolffian duct adenoma" EXACT [DOID:2616, NCIT:C4294]
xref: DOID:2616 {source="MONDO:equivalentTo"}
xref: ICDO:9110/0 {source="NCIT:C4294"}
xref: MEDGEN:87259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4294 {source="MONDO:equivalentObsolete", source="DOID:2616"}
xref: SCTID:72889001 {source="DOID:2616"}
xref: UMLS:C0334530 {source="MEDGEN:87259", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024888 {source="MONDO:Redundant", source="NCIT:C4294"} ! mesonephric neoplasm
intersection_of: MONDO:0024888 ! mesonephric neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant
relationship: excluded_subClassOf MONDO:0000383 {source="DOID:2616", source="https://orcid.org/0000-0001-5208-3432"} ! benign reproductive system neoplasm

[Term]
id: MONDO:0024890
name: pineal parenchymal cell neoplasm
def: "A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)" [NCIT:C6965]
subset: otar {source="MONDO:OTAR"}
synonym: "neoplasm of pineal gland" EXACT [NCIT:C6965]
synonym: "neoplasm of the pineal gland" EXACT [NCIT:C6965]
synonym: "pineal gland neoplasm" EXACT [NCIT:C6965]
synonym: "pineal gland tumor" EXACT [NCIT:C6965]
synonym: "pineal gland tumour" EXACT OMO:0003005 []
synonym: "pineal parenchymal cell neoplasm" EXACT [NCIT:C6965]
synonym: "pineal parenchymal cell tumor" EXACT [NCIT:C6965]
synonym: "pineal parenchymal cell tumour" EXACT OMO:0003005 []
synonym: "pineal parenchymal neoplasm" EXACT [NCIT:C6965]
synonym: "pineal parenchymal tumor" EXACT [NCIT:C6965]
synonym: "pineal parenchymal tumour" EXACT OMO:0003005 []
synonym: "pineocytic neoplasm" EXACT [NCIT:C6965]
synonym: "pineocytic tumor" EXACT [NCIT:C6965]
synonym: "pineocytic tumour" EXACT OMO:0003005 []
synonym: "tumor of pineal gland" EXACT [NCIT:C6965]
synonym: "tumor of the pineal gland" EXACT [NCIT:C6965]
synonym: "tumour of pineal gland" EXACT OMO:0003005 []
synonym: "tumour of the pineal gland" EXACT OMO:0003005 []
xref: ICDO:9360/1 {source="NCIT:C6965"}
xref: NCIT:C6965 {source="MONDO:equivalentTo"}
is_a: MONDO:0021193 {source="NCIT:C6965"} ! neuroepithelial neoplasm
is_a: MONDO:0021232 {source="NCIT:C6965"} ! pineal body neoplasm

[Term]
id: MONDO:0024891
name: non-infectious meningitis
synonym: "non-infective meningitis" EXACT []
xref: MEDGEN:1783059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:230155003 {source="MONDO:equivalentTo"}
xref: UMLS:C5539586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783059"}
is_a: MONDO:0021108 {source="https://orcid.org/0000-0001-5208-3432"} ! meningitis

[Term]
id: MONDO:0024892
name: soft tissue amyloid neoplasm
def: "A soft tissue neoplasm composed of acellular amyloid material." [NCIT:C8323]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "amyloid neoplasm" EXACT [DOID:6755, NCIT:C8323]
synonym: "amyloid tumor" RELATED [DOID:6755]
synonym: "amyloid tumor (morphologic abnormality)" EXACT [DOID:6755]
synonym: "amyloid tumour" RELATED OMO:0003005 []
synonym: "amyloid tumour (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "soft tissue amyloid neoplasm" EXACT [NCIT:C8323]
synonym: "soft tissue amyloid tumor" EXACT [NCIT:C8323]
synonym: "soft tissue amyloid tumour" EXACT OMO:0003005 []
xref: DOID:6755 {source="EFO:0003114", source="MONDO:equivalentTo"}
xref: ICD9:714.32 {source="MONDO:relatedTo", source="EFO:0003114"}
xref: MEDGEN:310467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8323 {source="MONDO:equivalentTo"}
xref: SCTID:37279009 {source="DOID:6755"}
xref: UMLS:C1706802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:310467"}
is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C8323"} ! soft tissue neoplasm
is_a: MONDO:0019065 {source="MONDO:Redundant", source="NCIT:C8323"} ! amyloidosis
intersection_of: MONDO:0006424 {source="NCIT:C8323"} ! soft tissue neoplasm
intersection_of: MONDO:0019065 {source="NCIT:C8323"} ! amyloidosis

[Term]
id: MONDO:0024893
name: toxocara canis infection (canine roundworms)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Human infection with the larvae of canine or feline roundworms" RELATED [MESH:C531834]
synonym: "Toxocara catis infection (feline roundworms)" RELATED [MESH:C531834]
xref: MEDGEN:419650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531834 {source="MONDO:equivalentTo"}
xref: UMLS:C2930846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419650"}
is_a: MONDO:0005988 {source="MESH:C531834"} ! toxocariasis

[Term]
id: MONDO:0024905
name: bird disease
def: "Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc." [MESH:D001715]
subset: otar {source="MONDO:OTAR"}
synonym: "Avian disease" RELATED [MESH:D001715]
synonym: "Avian diseases" RELATED [MESH:D001715]
synonym: "bird disease" EXACT [MESH:D001715]
synonym: "disease, Avian" RELATED [MESH:D001715]
synonym: "disease, Bird" RELATED [MESH:D001715]
synonym: "diseases, Avian" RELATED [MESH:D001715]
synonym: "diseases, Bird" RELATED [MESH:D001715]
xref: MESH:D001715 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D001715"} ! non-human animal disease
intersection_of: MONDO:0000001 ! disease
intersection_of: in_taxon NCBITaxon:8782 ! Aves
relationship: in_taxon NCBITaxon:8782 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Aves

[Term]
id: MONDO:0024912
name: cat disease
def: "Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used." [MESH:D002371]
synonym: "cat disease" EXACT [MESH:D002371]
synonym: "disease, Cat" RELATED [MESH:D002371]
synonym: "disease, Feline" RELATED [MESH:D002371]
synonym: "diseases, Cat" RELATED [MESH:D002371]
synonym: "diseases, Feline" RELATED [MESH:D002371]
synonym: "Feline disease" RELATED [MESH:D002371]
synonym: "Feline diseases" RELATED [MESH:D002371]
xref: MESH:D002371 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D002371"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9685 {source="https://orcid.org/0000-0002-4142-7153"}

[Term]
id: MONDO:0024913
name: cattle disease
def: "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." [MESH:D002418]
subset: otar {source="MONDO:OTAR"}
synonym: "bovine disease" RELATED [MESH:D002418]
synonym: "bovine diseases" RELATED [MESH:D002418]
synonym: "cattle disease" EXACT [MESH:D002418]
synonym: "disease, bovine" RELATED [MESH:D002418]
synonym: "disease, cattle" RELATED [MESH:D002418]
synonym: "diseases, bovine" RELATED [MESH:D002418]
synonym: "diseases, cattle" RELATED [MESH:D002418]
xref: MESH:D002418 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D002418"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9903 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0024919
name: dog disease
def: "Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used." [MESH:D004283]
synonym: "canine disease" RELATED [MESH:D004283]
synonym: "canine diseases" RELATED [MESH:D004283]
synonym: "disease, canine" RELATED [MESH:D004283]
synonym: "disease, Dog" RELATED [MESH:D004283]
synonym: "diseases, canine" RELATED [MESH:D004283]
synonym: "diseases, Dog" RELATED [MESH:D004283]
synonym: "dog disease" EXACT [MESH:D004283]
xref: MESH:D004283 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D004283"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9615 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0024934
name: fish disease
def: "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)." [MESH:D005393]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, fish" RELATED [MESH:D005393]
synonym: "diseases, fish" RELATED [MESH:D005393]
synonym: "fish disease" EXACT [MESH:D005393]
xref: MESH:D005393 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D005393"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:32443 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:7778 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0024935
name: foot rot
def: "A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)" [MESH:D005535]
synonym: "foot Rots" RELATED [MESH:D005535]
synonym: "rot, foot" RELATED [MESH:D005535]
synonym: "Rots, foot" RELATED [MESH:D005535]
xref: MESH:D005535 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D005535"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0024985 ! sheep disease
is_a: MONDO:0024990 ! swine disease
property_value: RO:0002175 NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0024945
name: hepatitis, non-human animal
def: "Inflammation of the liver in non-human animals." [MESH:D006520]
synonym: "animal Hepatitides" RELATED [MESH:D006520]
synonym: "animal Hepatitis" RELATED [MESH:D006520]
synonym: "Hepatitides, animal" RELATED [MESH:D006520]
xref: MESH:D006520 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D006520"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002251 ! cross-species analog hepatitis
relationship: MONDO:0700097 MONDO:0002251 {source="MESH:D006520"} ! cross-species analog hepatitis

[Term]
id: MONDO:0024950
name: horse disease
def: "Diseases of domestic and wild horses of the species Equus caballus." [MESH:D006734]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, equine" RELATED [MESH:D006734]
synonym: "disease, horse" RELATED [MESH:D006734]
synonym: "diseases, equine" RELATED [MESH:D006734]
synonym: "diseases, horse" RELATED [MESH:D006734]
synonym: "equine disease" RELATED [MESH:D006734]
synonym: "equine diseases" RELATED [MESH:D006734]
synonym: "horse disease" EXACT [MESH:D006734]
xref: MESH:D006734 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D006734"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9788 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0024953
name: lameness, non-human animal
def: "A departure from the normal gait in animals." [MESH:D007794]
synonym: "animal Gait disorder" RELATED [MESH:D007794]
synonym: "animal Gait disorders" RELATED [MESH:D007794]
synonym: "animal lameness" RELATED [MESH:D007794]
synonym: "animal Lamenesses" RELATED [MESH:D007794]
synonym: "disorder, animal Gait" RELATED [MESH:D007794]
synonym: "disorders, animal Gait" RELATED [MESH:D007794]
synonym: "Gait disorder, animal" RELATED [MESH:D007794]
synonym: "Gait disorders, animal" RELATED [MESH:D007794]
synonym: "Lamenesses, animal" RELATED [MESH:D007794]
xref: MESH:D007794 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D007794"} ! non-human animal disease

[Term]
id: MONDO:0024954
name: larva migrans, visceral
def: "A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati." [MESH:D007816]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "larva Migran, visceral" RELATED [MESH:D007816]
synonym: "Migran, visceral larva" RELATED [MESH:D007816]
synonym: "migrans, visceral larva" RELATED [MESH:D007816]
synonym: "visceral larva Migran" RELATED [MESH:D007816]
synonym: "visceral larva migrans" RELATED [MESH:D007816]
synonym: "visceral larva migrans syndrome" RELATED [MESH:D007816]
xref: MEDGEN:9681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007816 {source="MONDO:equivalentTo"}
xref: UMLS:C0023049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9681"}
is_a: MONDO:0005988 {source="MESH:D007816"} ! toxocariasis
is_a: MONDO:0018500 {source="MESH:D007816"} ! cutaneous larva migrans

[Term]
id: MONDO:0024965
name: muscular dystrophy, non-human animal
synonym: "animal muscular dystrophies" RELATED [MESH:D009137]
synonym: "animal muscular dystrophy" RELATED [MESH:D009137]
synonym: "dystrophies, animal muscular" RELATED [MESH:D009137]
synonym: "dystrophy, animal muscular" RELATED [MESH:D009137]
synonym: "muscular dystrophies, animal" RELATED [MESH:D009137]
xref: MESH:D009137 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D009137"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020121 ! cross-species analog muscular dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: MONDO:0700097 MONDO:0020121 ! cross-species analog muscular dystrophy

[Term]
id: MONDO:0024969
name: parasitic disease, non-human animal
def: "Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary." [MESH:D010273]
synonym: "animal parasitic disease" RELATED [MESH:D010273]
synonym: "animal parasitic diseases" RELATED [MESH:D010273]
synonym: "disease, animal parasitic" RELATED [MESH:D010273]
synonym: "diseases, animal parasitic" RELATED [MESH:D010273]
synonym: "parasitic disease, animal" RELATED [MESH:D010273]
synonym: "parasitic infectious disease, non-human animal" EXACT [https://orcid.org/0000-0002-4142-7153]
xref: MESH:D010273 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D010273"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005135 ! cross-species analog parasitic infectious disease

[Term]
id: MONDO:0024971
name: parturient paresis
def: "A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes." [MESH:D010319]
synonym: "animal milk fever" RELATED [MESH:D010319]
synonym: "fever, animal milk" RELATED [MESH:D010319]
synonym: "milk fever" EXACT [ISBN-13:978-0323088398]
synonym: "milk fever, animal" RELATED [MESH:D010319]
synonym: "Pareses, parturient" RELATED [MESH:D010319]
synonym: "paresis, parturient" RELATED [MESH:D010319]
synonym: "parturient Pareses" RELATED [MESH:D010319]
xref: MESH:D010319 {source="MONDO:equivalentTo"}
xref: SCTID:405256006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D010319"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0024985 ! sheep disease
is_a: MONDO:0025003 ! goat disease
property_value: RO:0002175 NCBITaxon:9913 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9925 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9940 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0024973
name: pneumonia, atypical interstitial, of cattle
def: "A cattle disease of uncertain cause, probably an allergic reaction." [MESH:D011016]
synonym: "Adenomatoses, bovine pulmonary" RELATED [MESH:D011016]
synonym: "adenomatosis, bovine pulmonary" RELATED [MESH:D011016]
synonym: "adenomatosis, pulmonary, bovine" RELATED [MESH:D011016]
synonym: "atypical interstitial pneumonia of cattle" RELATED [MESH:D011016]
synonym: "bovine pulmonary Adenomatoses" RELATED [MESH:D011016]
synonym: "bovine pulmonary adenomatosis" RELATED [MESH:D011016]
synonym: "emphysema, acute bovine pulmonary" RELATED [MESH:D011016]
synonym: "fever, Fog" RELATED [MESH:D011016]
synonym: "Fog fever" RELATED [MESH:D011016]
synonym: "pulmonary Adenomatoses, bovine" RELATED [MESH:D011016]
synonym: "pulmonary adenomatosis, bovine" RELATED [MESH:D011016]
xref: MESH:D011016 {source="MONDO:equivalentTo"}
is_a: MONDO:0005678 {source="MESH:D011016"} ! bovine respiratory disease complex
relationship: in_taxon NCBITaxon:9913 {source="PMID:20619192", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus

[Term]
id: MONDO:0024981
name: rodent disease
def: "Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)." [MESH:D012376]
synonym: "disease, Rodent" RELATED [MESH:D012376]
synonym: "diseases, Rodent" RELATED [MESH:D012376]
synonym: "rodent disease" EXACT [MESH:D012376]
xref: MESH:D012376 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D012376"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9989 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0024982
name: salmonella infections, animal
def: "Infections in animals with bacteria of the genus salmonella." [MESH:D012481]
synonym: "animal Salmonella infection" RELATED [MESH:D012481]
synonym: "animal Salmonella infections" RELATED [MESH:D012481]
synonym: "infection, animal Salmonella" RELATED [MESH:D012481]
synonym: "infections, animal Salmonella" RELATED [MESH:D012481]
synonym: "Salmonella infection, animal" RELATED [MESH:D012481]
synonym: "salmonellosis, non-human animal" EXACT [https://orcid.org/0000-0002-4142-7153]
xref: MESH:D012481 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D012481"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000827 ! cross-species analog salmonellosis

[Term]
id: MONDO:0024985
name: sheep disease
def: "Diseases of domestic and mountain sheep of the genus Ovis." [MESH:D012757]
synonym: "disease, Ovine" RELATED [MESH:D012757]
synonym: "disease, sheep" RELATED [MESH:D012757]
synonym: "diseases, Ovine" RELATED [MESH:D012757]
synonym: "diseases, sheep" RELATED [MESH:D012757]
synonym: "Ovine disease" RELATED [MESH:D012757]
synonym: "Ovine diseases" RELATED [MESH:D012757]
synonym: "sheep disease" EXACT [MESH:D012757]
xref: MESH:D012757 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D012757"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9935 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0024987
name: obsolete genetic urogenital tract malformation
subset: ordo_group_of_disorders {source="Orphanet:156622"}
xref: GARD:20009 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:156622 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true
consider: MONDO:0019356

[Term]
id: MONDO:0024988
name: sex cord-stromal benign neoplasm
def: "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts." [DOID:0080368]
xref: DOID:0080368 {source="MONDO:equivalentTo"}
is_a: MONDO:0000383 {source="DOID:0080368"} ! benign reproductive system neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0005295 ! sex cord

[Term]
id: MONDO:0024990
name: swine disease
def: "Diseases of domestic swine and of the wild boar of the genus Sus." [MESH:D013553]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, swine" RELATED [MESH:D013553]
synonym: "diseases, swine" RELATED [MESH:D013553]
synonym: "swine disease" EXACT [MESH:D013553]
xref: MESH:D013553 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D013553"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9822 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0024996
name: obsolete Usher syndrome, type 2b
synonym: "US2B" RELATED ABBREVIATION [GARD:0005441]
synonym: "USH2B" RELATED ABBREVIATION [GARD:0005441]
xref: OMIM:276905 {source="GARD:0005441", source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
replaced_by: MONDO:0011558

[Term]
id: MONDO:0025003
name: goat disease
def: "Diseases of the domestic or wild goat of the genus Capra." [MESH:D015511]
comment: Consider obsoleting this, as it groups other non-goat diseases
subset: otar {source="MONDO:OTAR"}
synonym: "caprine disease" RELATED [MESH:D015511]
synonym: "caprine diseases" RELATED [MESH:D015511]
synonym: "disease, caprine" RELATED [MESH:D015511]
synonym: "disease, goat" RELATED [MESH:D015511]
synonym: "diseases, caprine" RELATED [MESH:D015511]
synonym: "diseases, goat" RELATED [MESH:D015511]
synonym: "goat disease" EXACT [MESH:D015511]
xref: MESH:D015511 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D015511"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9922 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025013
name: non-human primate disease
def: "Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini." [MESH:D018419]
synonym: "disease, Primate" RELATED [MESH:D018419]
synonym: "diseases, Primate" RELATED [MESH:D018419]
synonym: "Primate disease" RELATED [MESH:D018419]
xref: MESH:D018419 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D018419"} ! non-human animal disease
property_value: RO:0002175 NCBITaxon:9443 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025028
name: vesicular stomatitis
def: "A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness." [MESH:D054243]
synonym: "Stomatitides, vesicular" RELATED [MESH:D054243]
synonym: "stomatitis, vesicular" RELATED [MESH:D054243]
synonym: "vesicular Stomatitides" RELATED [MESH:D054243]
xref: MESH:D054243 {source="MONDO:equivalentTo"}
xref: SCTID:36921006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D054243"} ! non-human animal disease
is_a: MONDO:0700072 {source="MESH:D054243"} ! Rhabdoviridae infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004842 ! cross-species analog stomatitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: RO:0002175 NCBITaxon:9606 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9788 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9796 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025030
name: digital dermatitis in cattle
def: "Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease." [MESH:D058066]
synonym: "bovine digital Dermatitides" RELATED [MESH:D058066]
synonym: "bovine digital dermatitis" RELATED [MESH:D058066]
synonym: "bovine foot wart" RELATED [MESH:D058066]
synonym: "bovine foot Warts" RELATED [MESH:D058066]
synonym: "bovine hairy footwart" RELATED [MESH:D058066]
synonym: "bovine hairy footwarts" RELATED [MESH:D058066]
synonym: "Dermatitides, bovine digital" RELATED [MESH:D058066]
synonym: "Dermatitides, digital" RELATED [MESH:D058066]
synonym: "dermatitis, bovine digital" RELATED [MESH:D058066]
synonym: "dermatitis, digital" RELATED [MESH:D058066]
synonym: "digital Dermatitides" RELATED [MESH:D058066]
synonym: "digital Dermatitides, bovine" RELATED [MESH:D058066]
synonym: "digital Dermatitides, Ovine" RELATED [MESH:D058066]
synonym: "digital Dermatitides, papillomatous" RELATED [MESH:D058066]
synonym: "digital dermatitis, bovine" RELATED [MESH:D058066]
synonym: "digital dermatitis, Ovine" RELATED [MESH:D058066]
synonym: "digital dermatitis, papillomatous" RELATED [MESH:D058066]
synonym: "digital Papillomatoses" RELATED [MESH:D058066]
synonym: "digital papillomatosis" RELATED [MESH:D058066]
synonym: "foot wart, bovine" RELATED [MESH:D058066]
synonym: "foot Warts, bovine" RELATED [MESH:D058066]
synonym: "footwart, bovine hairy" RELATED [MESH:D058066]
synonym: "footwarts, bovine hairy" RELATED [MESH:D058066]
synonym: "hairy footwart, bovine" RELATED [MESH:D058066]
synonym: "hairy footwarts, bovine" RELATED [MESH:D058066]
synonym: "Ovine digital Dermatitides" RELATED [MESH:D058066]
synonym: "Ovine digital dermatitis" RELATED [MESH:D058066]
synonym: "Papillomatoses, digital" RELATED [MESH:D058066]
synonym: "papillomatosis, digital" RELATED [MESH:D058066]
synonym: "papillomatous digital Dermatitides" RELATED [MESH:D058066]
synonym: "papillomatous digital dermatitis" RELATED [MESH:D058066]
synonym: "wart, bovine foot" RELATED [MESH:D058066]
synonym: "Warts, bovine foot" RELATED [MESH:D058066]
xref: MESH:D058066 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D058066"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0700109 ! skin disease caused by bacterial infection, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025061
name: edema disease of swine
def: "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema." [MESH:D004488]
synonym: "swine edema disease" RELATED [MESH:D004488]
synonym: "swine edema diseases" RELATED [MESH:D004488]
synonym: "swine oedema disease" RELATED OMO:0003005 []
synonym: "swine oedema diseases" RELATED OMO:0003005 []
xref: MESH:D004488 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D004488"} ! swine disease
relationship: in_taxon NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Sus scrofa

[Term]
id: MONDO:0025062
name: encephalomyelitis, enzootic porcine
def: "A picornavirus infection producing symptoms similar to poliomyelitis in pigs." [MESH:D004682]
synonym: "disease, Talfan" RELATED [MESH:D004682]
synonym: "disease, Teschen" RELATED [MESH:D004682]
synonym: "enzootic porcine encephalomyelitis" RELATED [MESH:D004682]
synonym: "poliomyelitis, porcine" RELATED [MESH:D004682]
synonym: "porcine encephalomyelitis, enzootic" RELATED [MESH:D004682]
synonym: "porcine poliomyelitis" RELATED [MESH:D004682]
synonym: "Talfan disease" RELATED [MESH:D004682]
synonym: "Teschen disease" RELATED [MESH:D004682]
xref: MESH:D004682 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D004682"} ! swine disease
is_a: MONDO:0700210 {source="MESH:D004682"} ! enterovirus infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025066
name: epidermitis, exudative, of swine
def: "An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)" [MESH:D004818]
synonym: "disease, greasy pig" RELATED [MESH:D004818]
synonym: "Epidermitis, exudative of swine" RELATED [MESH:D004818]
synonym: "exudative dermatitis of swine" RELATED [MESH:D004818]
synonym: "greasy pig disease" RELATED [MESH:D004818]
synonym: "swine exudative Dermatitides" RELATED [MESH:D004818]
synonym: "swine exudative dermatitis" RELATED [MESH:D004818]
xref: MESH:D004818 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D004818"} ! swine disease
property_value: RO:0002175 NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025082
name: helminthiasis, animal
def: "Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary." [MESH:D006374]
synonym: "animal Helminthiases" RELATED [MESH:D006374]
synonym: "animal helminthiasis" RELATED [MESH:D006374]
synonym: "Helminthiases, animal" RELATED [MESH:D006374]
xref: MESH:D006374 {source="MONDO:equivalentTo"}
is_a: MONDO:0024969 {source="MESH:D006374"} ! parasitic disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004664 ! cross-species analog helminthiasis

[Term]
id: MONDO:0025085
name: hepatitis, viral, animal
def: "Inflammation of the liver in animals due to viral infection." [MESH:D006524]
xref: MESH:D006524 {source="MONDO:equivalentTo"}
is_a: MONDO:0024945 {source="MESH:D006524"} ! hepatitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006011 ! cross-species analog viral hepatitis

[Term]
id: MONDO:0025086
name: hip dysplasia, canine
def: "A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age." [MESH:D006619]
synonym: "canine hip dysplasia" RELATED [MESH:D006619]
synonym: "dysplasia, canine hip" RELATED [MESH:D006619]
xref: MESH:D006619 {source="MONDO:equivalentTo"}
is_a: MONDO:0024919 {source="MESH:D006619"} ! dog disease
relationship: in_taxon NCBITaxon:9615 {source="PMID:9364228", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Canis lupus familiaris

[Term]
id: MONDO:0025087
name: classical swine fever
def: "An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality." [MESH:D006691]
synonym: "cholera, Hog" RELATED [MESH:D006691]
synonym: "Hog cholera" RELATED [MESH:D006691]
synonym: "swine fever" RELATED [MESH:D006691]
synonym: "swine fever, classical" RELATED [MESH:D006691]
xref: MESH:D006691 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D006691"} ! swine disease
is_a: MONDO:0700203 {source="MESH:D006691"} ! pestivirus infectious disease, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa

[Term]
id: MONDO:0025089
name: infectious bovine rhinotracheitis
def: "A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract." [MESH:D007241]
synonym: "bovine Rhinotracheitides, infectious" RELATED [MESH:D007241]
synonym: "bovine Rhinotracheitis, infectious" RELATED [MESH:D007241]
synonym: "infectious bovine Rhinotracheitides" RELATED [MESH:D007241]
synonym: "Rhinotracheitides, infectious bovine" RELATED [MESH:D007241]
synonym: "Rhinotracheitis, infectious bovine" RELATED [MESH:D007241]
xref: MESH:D007241 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D007241"} ! cattle disease
is_a: MONDO:0700214 {source="MESH:D007241"} ! Herpesviridae infectious disease, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus

[Term]
id: MONDO:0025095
name: malaria, avian
def: "Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria." [MESH:D008289]
synonym: "Avian malaria" RELATED [MESH:D008289]
synonym: "Avian Malarias" RELATED [MESH:D008289]
synonym: "Malarias, Avian" RELATED [MESH:D008289]
xref: MESH:D008289 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D008289"} ! bird disease
relationship: in_taxon NCBITaxon:1549675 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Galloanserae
relationship: MONDO:0700097 MONDO:0005136 {source="MESH:D008289"} ! cross-species analog malaria

[Term]
id: MONDO:0025096
name: malignant catarrh
def: "A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte." [MESH:D008304]
synonym: "catarrh, malignant" RELATED [MESH:D008304]
synonym: "catarrhal fever, malignant" RELATED [MESH:D008304]
synonym: "catarrhal fevers, malignant" RELATED [MESH:D008304]
synonym: "Catarrhs, malignant" RELATED [MESH:D008304]
synonym: "fever, malignant catarrhal" RELATED [MESH:D008304]
synonym: "fevers, malignant catarrhal" RELATED [MESH:D008304]
synonym: "malignant catarrhal fever" RELATED [MESH:D008304]
synonym: "malignant catarrhal fevers" RELATED [MESH:D008304]
synonym: "malignant Catarrhs" RELATED [MESH:D008304]
xref: MESH:D008304 {source="MONDO:equivalentTo"}
xref: SCTID:24043009 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D008304"} ! cattle disease
is_a: MONDO:0700214 {source="MESH:D008304"} ! Herpesviridae infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:9845 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025100
name: mastitis, bovine
def: "Inflammation of the udder in cows." [MESH:D008414]
synonym: "bovine Mastitides" RELATED [MESH:D008414]
synonym: "bovine mastitis" RELATED [MESH:D008414]
synonym: "Mastitides, bovine" RELATED [MESH:D008414]
xref: MESH:D008414 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D008414"} ! cattle disease
relationship: in_taxon NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus

[Term]
id: MONDO:0025102
name: monkey disease
def: "Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases)." [MESH:D008992]
synonym: "disease, monkey" RELATED [MESH:D008992]
synonym: "diseases, monkey" RELATED [MESH:D008992]
synonym: "monkey disease" EXACT [MESH:D008992]
xref: MESH:D008992 {source="MONDO:equivalentTo"}
is_a: MONDO:0025013 {source="MESH:D008992"} ! non-human primate disease
property_value: RO:0002175 NCBITaxon:9554 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025113
name: poultry disease
def: "Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild." [MESH:D011201]
synonym: "disease, poultry" RELATED [MESH:D011201]
synonym: "diseases, poultry" RELATED [MESH:D011201]
synonym: "poultry disease" EXACT [MESH:D011201]
xref: MESH:D011201 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D011201"} ! bird disease
relationship: in_taxon NCBITaxon:8782 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Aves

[Term]
id: MONDO:0025114
name: protozoan infections, animal
def: "Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary." [MESH:D011529]
synonym: "animal protozoan infection" RELATED [MESH:D011529]
synonym: "animal protozoan infections" RELATED [MESH:D011529]
synonym: "infection, animal protozoan" RELATED [MESH:D011529]
synonym: "infections, animal protozoan" RELATED [MESH:D011529]
synonym: "protozoan infection, animal" RELATED [MESH:D011529]
xref: MESH:D011529 {source="MONDO:equivalentTo"}
is_a: MONDO:0024969 {source="MESH:D011529"} ! parasitic disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002428 ! cross-species analog protozoa infectious disease

[Term]
id: MONDO:0025129
name: swine erysipelas
def: "An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa." [MESH:D013554]
synonym: "erysipelas, swine" RELATED [MESH:D013554]
xref: MESH:D013554 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D013554"} ! swine disease
is_a: MONDO:0700211 {source="MESH:D013554"} ! Erysipelothrix infectious disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Sus scrofa

[Term]
id: MONDO:0025130
name: swine vesicular disease
def: "An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B." [MESH:D013555]
synonym: "swine vesicular diseases" RELATED [MESH:D013555]
synonym: "vesicular disease, swine" RELATED [MESH:D013555]
synonym: "vesicular diseases, swine" RELATED [MESH:D013555]
xref: MESH:D013555 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D013555"} ! swine disease
is_a: MONDO:0700210 {source="MESH:D013555"} ! enterovirus infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025135
name: tuberculosis, avian
def: "A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells." [MESH:D014379]
synonym: "Avian Tuberculoses" RELATED [MESH:D014379]
synonym: "Avian tuberculosis" RELATED [MESH:D014379]
synonym: "Tuberculoses, Avian" RELATED [MESH:D014379]
xref: MESH:D014379 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D014379"} ! bird disease
is_a: MONDO:0700212 {source="MESH:D014379"} ! tuberculosis, non-human animal
relationship: in_taxon NCBITaxon:8782 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Aves

[Term]
id: MONDO:0025136
name: tuberculosis, bovine
def: "An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals." [MESH:D014380]
synonym: "bovine Tuberculoses" RELATED [MESH:D014380]
synonym: "bovine tuberculosis" RELATED [MESH:D014380]
synonym: "Tuberculoses, bovine" RELATED [MESH:D014380]
xref: MESH:D014380 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D014380"} ! cattle disease
is_a: MONDO:0700212 {source="MESH:D014380"} ! tuberculosis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus

[Term]
id: MONDO:0025138
name: vesicular exanthema of swine
def: "A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia." [MESH:D014720]
synonym: "swine vesicular exanthema" RELATED [MESH:D014720]
synonym: "swine vesicular Exanthemas" RELATED [MESH:D014720]
xref: MESH:D014720 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D014720"} ! swine disease
is_a: MONDO:0700208 {source="MESH:D014720"} ! Caliciviridae infectious disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Sus scrofa

[Term]
id: MONDO:0025139
name: white muscle disease
def: "A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)" [MESH:D014912]
synonym: "disease, White muscle" RELATED [MESH:D014912]
synonym: "diseases, White muscle" RELATED [MESH:D014912]
synonym: "muscle disease, White" RELATED [MESH:D014912]
synonym: "muscle diseases, White" RELATED [MESH:D014912]
synonym: "White muscle diseases" RELATED [MESH:D014912]
xref: MESH:D014912 {source="MONDO:equivalentTo"}
is_a: MONDO:0024965 {source="MESH:D014912"} ! muscular dystrophy, non-human animal
property_value: RO:0002175 NCBITaxon:9788 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025149
name: encephalopathy, bovine spongiform
def: "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)" [MESH:D016643]
synonym: "bovine spongiform encephalitis" EXACT [MESH:D016643]
synonym: "bovine spongiform encephalopathy" EXACT [MESH:D016643]
synonym: "BSE (bovine spongiform encephalopathy)" EXACT [MESH:D016643]
synonym: "BSEs (bovine spongiform encephalopathy)" EXACT [MESH:D016643]
synonym: "encephalitis, bovine spongiform" EXACT [MESH:D016643]
synonym: "Mad cow disease" RELATED [MESH:D016643]
synonym: "Mad cow diseases" RELATED [MESH:D016643]
synonym: "spongiform encephalopathy, bovine" EXACT [MESH:D016643]
xref: MESH:D016643 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D016643"} ! cattle disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007012 ! cross-species analog variant Creutzfeldt-Jakob disease
relationship: disease_shares_features_of MONDO:0007012 ! variant Creutzfeldt-Jakob disease
relationship: MONDO:0700097 MONDO:0007012 ! cross-species analog variant Creutzfeldt-Jakob disease
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025152
name: non-human ape disease
def: "Diseases of chimpanzees, gorillas, and orangutans." [MESH:D018420]
synonym: "ape disease" RELATED [MESH:D018420]
synonym: "disease, ape" RELATED [MESH:D018420]
synonym: "disease, Pongidae" RELATED [MESH:D018420]
synonym: "diseases, ape" RELATED [MESH:D018420]
synonym: "diseases, Pongidae" RELATED [MESH:D018420]
synonym: "Pongidae disease" RELATED [MESH:D018420]
synonym: "Pongidae diseases" RELATED [MESH:D018420]
xref: MESH:D018420 {source="MONDO:equivalentTo"}
is_a: MONDO:0025013 {source="MESH:D018420"} ! non-human primate disease
property_value: RO:0002175 NCBITaxon:9592 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9596 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9599 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025155
name: obsolete hemorrhagic syndrome, bovine
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5294" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005679

[Term]
id: MONDO:0025159
name: pneumonia of swine, mycoplasmal
def: "A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection." [MESH:D045729]
synonym: "enzootic pneumonia of pigs" RELATED [MESH:D045729]
synonym: "enzootic pneumonia of swine" RELATED [MESH:D045729]
synonym: "Mycoplasma pneumonia of pigs" RELATED [MESH:D045729]
synonym: "Mycoplasma pneumonia of swine" RELATED [MESH:D045729]
synonym: "Mycoplasmal pneumonia of swine" RELATED [MESH:D045729]
synonym: "pneumonia of swine, enzootic" RELATED [MESH:D045729]
synonym: "swine enzootic pneumonia" RELATED [MESH:D045729]
synonym: "swine Mycoplasma pneumonia" RELATED [MESH:D045729]
synonym: "swine Mycoplasmal pneumonia" RELATED [MESH:D045729]
xref: MESH:D045729 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D045729"} ! swine disease
is_a: MONDO:0700111 ! bacterial pneumonia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa

[Term]
id: MONDO:0025163
name: white heifer disease
def: "A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile." [MESH:D050072]
synonym: "disease, White heifer" RELATED [MESH:D050072]
xref: MESH:D050072 {source="MONDO:equivalentTo"}
xref: SCTID:82642007 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D050072"} ! cattle disease
relationship: in_taxon NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus

[Term]
id: MONDO:0025167
name: reticuloendotheliosis, avian
def: "A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant." [MESH:D055761]
synonym: "Avian Reticuloendothelioses" RELATED [MESH:D055761]
synonym: "Avian reticuloendotheliosis" RELATED [MESH:D055761]
synonym: "Reticuloendothelioses, Avian" RELATED [MESH:D055761]
xref: MESH:D055761 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D055761"} ! bird disease
property_value: RO:0002175 NCBITaxon:8782 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025193
name: oculopharyngodistal myopathy
def: "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." [https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy]
subset: gard_rare {source="GARD:12592", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98897"}
subset: ordo_inheritance_inconsistent
subset: orphanet_rare {source="Orphanet:98897"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" RELATED [OMIM:164310]
synonym: "oculopharyngeal distal myopathy" EXACT [Orphanet:98897]
synonym: "oculopharyngodistal myopathy" EXACT [MONDO:Lexical, OMIM:164310]
synonym: "OPDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164310, Orphanet:98897]
xref: DOID:0081296 {source="MONDO:equivalentTo"}
xref: GARD:12592 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="Orphanet:98897", source="Orphanet:98897/attributed", source="Orphanet:98897/ntbt"}
xref: MEDGEN:320250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563508 {source="MONDO:equivalentTo"}
xref: NANDO:1200219 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIMPS:164310 {source="MONDO:equivalentTo"}
xref: Orphanet:98897 {source="MONDO:equivalentTo", source="OMIM:164310"}
xref: SCTID:763829004 {source="MONDO:equivalentTo"}
xref: UMLS:C1834014 {source="MEDGEN:320250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016106 {source="Orphanet:98897"} ! progressive muscular dystrophy
is_a: MONDO:0018949 {source="Orphanet:98897", source="Orphanet:98897/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! distal myopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:164310"} ! inherited
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy" xsd:anyURI {source="GARD:0012592"}

[Term]
id: MONDO:0025263
name: strongyle infections, equine
def: "Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum." [MESH:D013319]
synonym: "equine strongyle infection" RELATED [MESH:D013319]
synonym: "equine strongyle infections" RELATED [MESH:D013319]
synonym: "equine Strongyloses" RELATED [MESH:D013319]
synonym: "equine Strongylosis" RELATED [MESH:D013319]
synonym: "infection, equine strongyle" RELATED [MESH:D013319]
synonym: "infections, equine strongyle" RELATED [MESH:D013319]
synonym: "strongyle infection, equine" RELATED [MESH:D013319]
synonym: "Strongyloses, equine" RELATED [MESH:D013319]
synonym: "Strongylosis, equine" RELATED [MESH:D013319]
xref: MESH:D013319 {source="MONDO:equivalentTo"}
is_a: MONDO:0024950 {source="MESH:D013319"} ! horse disease
is_a: MONDO:0025082 {source="MESH:D013319"} ! helminthiasis, animal
is_a: MONDO:0700209 {source="MESH:D013319"} ! Strongylida infectious disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus

[Term]
id: MONDO:0025270
name: toxoplasmosis, non-human animal
def: "Acquired infection of non-human animals by organisms of the genus toxoplasma." [MESH:D014124]
synonym: "animal Toxoplasmoses" RELATED [MESH:D014124]
synonym: "animal toxoplasmosis" RELATED [MESH:D014124]
synonym: "Toxoplasmoses, animal" RELATED [MESH:D014124]
xref: MESH:D014124 {source="MONDO:equivalentTo"}
is_a: MONDO:0025114 {source="MESH:D014124"} ! protozoan infections, animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005989 ! cross-species analog toxoplasmosis

[Term]
id: MONDO:0025271
name: trypanosomiasis, bovine
def: "Infection in cattle caused by various species of trypanosomes." [MESH:D014354]
synonym: "bovine Trypanosomiases" RELATED [MESH:D014354]
synonym: "bovine trypanosomiasis" RELATED [MESH:D014354]
synonym: "Trypanosomiases, bovine" RELATED [MESH:D014354]
xref: MESH:D014354 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D014354"} ! cattle disease
is_a: MONDO:0025114 {source="MESH:D014354"} ! protozoan infections, animal
is_a: MONDO:0700213 {source="MESH:D014354"} ! trypanosomiasis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025293
name: poult enteritis mortality syndrome
def: "An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections." [MESH:D031261]
synonym: "mortality syndrome, spiking" RELATED [MESH:D031261]
synonym: "spiking mortality syndrome" RELATED [MESH:D031261]
xref: MESH:D031261 {source="MONDO:equivalentTo"}
is_a: MONDO:0025113 {source="MESH:D031261"} ! poultry disease
relationship: in_taxon NCBITaxon:9103 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo

[Term]
id: MONDO:0025294
name: tick-borne infectious disease
def: "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic." [MESH:D017282]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, Tick-borne" RELATED [MESH:D017282]
synonym: "diseases, Tick-borne" RELATED [MESH:D017282]
synonym: "infection, Tick-borne" RELATED [MESH:D017282]
synonym: "infections, Tick borne" RELATED [MESH:D017282]
synonym: "infections, Tick-borne" RELATED [MESH:D017282]
synonym: "Tick borne diseases" RELATED [MESH:D017282]
synonym: "Tick borne infections" RELATED [MESH:D017282]
synonym: "Tick-borne disease" RELATED [MESH:D017282]
synonym: "Tick-borne infection" RELATED [MESH:D017282]
synonym: "Tick-borne infections" RELATED [MESH:D017282]
xref: MEDGEN:56488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017282 {source="MONDO:equivalentTo"}
xref: UMLS:C0162700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56488"}
is_a: MONDO:0005550 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: transmitted_by NCBITaxon:6944 ! Ixodes

[Term]
id: MONDO:0025303
name: anaplasmosis
def: "A disease or disorder caused by infection with Anaplasma." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "anaplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "anaplasma disease or disorder" EXACT []
synonym: "anaplasma infectious disease" EXACT []
synonym: "anaplasmoses" EXACT [MESH:D000712]
synonym: "human anaplasmosis" EXACT [MONDO:0044747]
xref: ICD9:082.49
xref: MEDGEN:8053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000712 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C128425 {source="MONDO:equivalentTo"}
xref: SCTID:13906002 {source="MONDO:equivalentTo"}
xref: SCTID:427481004 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0002797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8053"}
is_a: MONDO:0006922 {source="MONDO:Redundant"} ! Anaplasmataceae infectious disease
is_a: MONDO:0025294 {source="MONDO:Redundant"} ! tick-borne infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:768 ! disease has primary infectious agent Anaplasma
relationship: transmitted_by NCBITaxon:6944 ! Ixodes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5897" xsd:anyURI

[Term]
id: MONDO:0025351
name: multiple congenital anomalies-neurodevelopmental syndrome, X-linked
synonym: "Linked syndrome" EXACT [OMIM:301056]
synonym: "MCAND" EXACT ABBREVIATION [OMIM:301056]
synonym: "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive" EXACT [OMIM:301056, OMIM:genemap2]
xref: MEDGEN:1788942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301056 {source="MONDO:equivalentTo"}
xref: UMLS:C5542341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788942"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0025353
name: developmental and epileptic encephalopathy, 90
subset: gard_rare {source="GARD:15286", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE90" EXACT ABBREVIATION [OMIM:301058]
synonym: "developmental and epileptic encephalopathy 90" EXACT [OMIM:301058]
synonym: "developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant" EXACT [OMIM:301058, OMIM:genemap2]
xref: DOID:0070381 {source="MONDO:equivalentTo"}
xref: GARD:15286 {source="MONDO:GARD"}
xref: MEDGEN:1786502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301058 {source="MONDO:equivalentTo"}
xref: UMLS:C5542345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786502"}
is_a: MONDO:0100062 {source="OMIM:301058"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0025354
name: spermatogenic failure, X-linked, 3
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure, X-linked, 3" EXACT [OMIM:301059]
synonym: "spermatogenic failure, X-linked, 3, X-linked recessive" EXACT [OMIM:301059, OMIM:genemap2]
synonym: "SPGFX3" EXACT ABBREVIATION [OMIM:301059]
xref: DOID:0112274 {source="MONDO:equivalentTo"}
xref: MEDGEN:1784059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301059 {source="MONDO:equivalentTo"}
xref: UMLS:C5542347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784059"}
is_a: MONDO:0004983 {source="OMIM:301059"} ! spermatogenic failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0025356
name: azoospermia, obstructive, with nephrolithiasis
synonym: "azoospermia, obstructive, with nephrolithiasis, X-linked recessive" EXACT [OMIM:301060, OMIM:genemap2]
synonym: "OAZON" EXACT ABBREVIATION [OMIM:301060]
xref: MEDGEN:1779119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301060 {source="MONDO:equivalentTo"}
xref: UMLS:C5542351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779119"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0025369
name: Nairobi sheep disease
def: "An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis." [MESH:D009265]
synonym: "disease, Nairobi sheep" RELATED [MESH:D009265]
synonym: "sheep disease, Nairobi" RELATED [MESH:D009265]
xref: MESH:D009265 {source="MONDO:equivalentTo"}
xref: SCTID:24069003 {source="MONDO:equivalentTo"}
is_a: MONDO:0024985 {source="MESH:D009265"} ! sheep disease
is_a: MONDO:0700201 {source="MESH:D009265"} ! tick-borne infectious disease, non-human animal
is_a: MONDO:0700202 {source="MESH:D009265"} ! Bunyaviridae infectious disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: RO:0002175 NCBITaxon:9925 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025370
name: obsolete urogenital neoplasm
def: "OBSOLETE. Tumors or cancer of the urogenital system in either the male or the female." [MESH:D014565]
comment: Reason: out of scope, grouping class. Terms to consider: 'reproductive system neoplasm' (MONDO:0006054), urinary system neoplasm (MONDO:0021066)
synonym: "genito-urinary neoplasm" RELATED [MESH:D014565]
synonym: "genito-urinary neoplasms" RELATED [MESH:D014565]
synonym: "genitourinary neoplasm" RELATED [MESH:D014565]
synonym: "genitourinary neoplasms" RELATED [MESH:D014565]
synonym: "genitourinary system neoplasm" EXACT []
synonym: "genitourinary system tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm of genitourinary system" EXACT [MONDO:patterns/neoplasm]
synonym: "neoplasm, genito-urinary" RELATED [MESH:D014565]
synonym: "neoplasm, genitourinary" RELATED [MESH:D014565]
synonym: "neoplasm, urogenital" RELATED [MESH:D014565]
synonym: "neoplasms, genito-urinary" RELATED [MESH:D014565]
synonym: "neoplasms, genitourinary" RELATED [MESH:D014565]
synonym: "neoplasms, urogenital" RELATED [MESH:D014565]
synonym: "tumor of genitourinary system" EXACT [MONDO:patterns/neoplasm]
synonym: "urogenital neoplasm" EXACT [MESH:D014565]
xref: MESH:D014565 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4113" xsd:anyURI
is_obsolete: true
consider: MONDO:0006054
consider: MONDO:0021066

[Term]
id: MONDO:0025371
name: Parvoviridae infectious disease
def: "Virus infections caused by the parvoviridae." [MESH:D010322]
subset: otar {source="MONDO:OTAR"}
synonym: "disease caused by Parvoviridae" RELATED []
synonym: "disease due to Parvoviridae" EXACT []
synonym: "infection, Parvoviridae" RELATED [MESH:D010322]
synonym: "infection, Parvovirus" RELATED [MESH:D010322]
synonym: "infections, Parvoviridae" RELATED [MESH:D010322]
synonym: "infections, Parvovirus" RELATED [MESH:D010322]
synonym: "Parvoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Parvoviridae disease or disorder" EXACT []
synonym: "Parvoviridae infection" RELATED [MESH:D010322]
synonym: "Parvovirus infection" RELATED [MESH:D010322]
synonym: "Parvovirus infections" RELATED [MESH:D010322]
xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D010322 {source="MONDO:equivalentTo"}
xref: SCTID:83223005 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10780 ! Parvoviridae

[Term]
id: MONDO:0025376
name: African horse sickness
def: "An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck." [MESH:D000355]
synonym: "African horse Sicknesses" RELATED [MESH:D000355]
synonym: "African Horsesickness" RELATED [MESH:D000355]
synonym: "African Horsesicknesses" RELATED [MESH:D000355]
synonym: "equine plague" RELATED [MESH:D000355]
synonym: "equine Plagues" RELATED [MESH:D000355]
synonym: "horse sickness, African" RELATED [MESH:D000355]
synonym: "horse Sicknesses, African" RELATED [MESH:D000355]
synonym: "Horsesickness, African" RELATED [MESH:D000355]
synonym: "Horsesicknesses, African" RELATED [MESH:D000355]
synonym: "plague, equine" RELATED [MESH:D000355]
synonym: "Plagues, equine" RELATED [MESH:D000355]
synonym: "sickness, African horse" RELATED [MESH:D000355]
synonym: "Sicknesses, African horse" RELATED [MESH:D000355]
xref: MESH:D000355 {source="MONDO:equivalentTo"}
is_a: MONDO:0024950 {source="MESH:D000355"} ! horse disease
is_a: MONDO:0700095 {source="MESH:D000355"} ! Reoviridae infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:319699 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9788 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9793 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9796 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025377
name: African swine fever
def: "A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros)." [MESH:D000357]
synonym: "swine fever, African" RELATED [MESH:D000357]
synonym: "wart Hog disease" RELATED [MESH:D000357]
synonym: "wart-Hog disease" RELATED [MESH:D000357]
synonym: "wart-Hog diseases" RELATED [MESH:D000357]
xref: MESH:D000357 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D000357"} ! swine disease
is_a: MONDO:0700201 {source="MESH:D000357"} ! tick-borne infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025381
name: avian leukosis
def: "A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere." [MESH:D001353]
synonym: "Avian Leukoses" RELATED [MESH:D001353]
synonym: "leukoses, Avian" RELATED [MESH:D001353]
synonym: "leukosis, Avian" RELATED [MESH:D001353]
synonym: "lymphoid leukosis" EXACT [https://www.merckvetmanual.com/]
xref: MESH:D001353 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D001353"} ! bird disease
relationship: in_taxon NCBITaxon:8782 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Aves

[Term]
id: MONDO:0025382
name: sarcoma, avian
def: "Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses." [MESH:D001357]
synonym: "Avian sarcoma" RELATED [MESH:D001357]
synonym: "Avian sarcomas" RELATED [MESH:D001357]
synonym: "Rous sarcoma" RELATED [MESH:D001357]
synonym: "sarcoma, Rous" RELATED [MESH:D001357]
synonym: "sarcomas, Avian" RELATED [MESH:D001357]
xref: MESH:D001357 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D001357"} ! bird disease
is_a: MONDO:0700098 ! neoplasm, non-human animal
relationship: MONDO:0700097 MONDO:0005089 {source="MESH:D001357/inferred"} ! cross-species analog sarcoma
property_value: RO:0002175 NCBITaxon:1549675 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025385
name: bluetongue
def: "A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet." [MESH:D001819]
synonym: "blue tongue" RELATED [MESH:D001819]
synonym: "tongue, blue" RELATED [MESH:D001819]
xref: MESH:D001819 {source="MONDO:equivalentTo"}
is_a: MONDO:0024985 {source="MESH:D001819"} ! sheep disease
is_a: MONDO:0700095 {source="MESH:D001819"} ! Reoviridae infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025389
name: brucellosis, bovine
def: "A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent." [MESH:D002007]
synonym: "bang disease" RELATED [MESH:D002007]
synonym: "bang's disease" RELATED [MESH:D002007]
synonym: "Bangs disease" RELATED [MESH:D002007]
synonym: "bovine Brucelloses" RELATED [MESH:D002007]
synonym: "bovine brucellosis" RELATED [MESH:D002007]
synonym: "Brucelloses, bovine" RELATED [MESH:D002007]
synonym: "disease, bang" RELATED [MESH:D002007]
synonym: "disease, bang's" RELATED [MESH:D002007]
xref: MESH:D002007 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D002007"} ! cattle disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9895 ! Bovidae
intersection_of: MONDO:0700097 MONDO:0005683 ! cross-species analog brucellosis
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025397
name: canine distemper
def: "A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species." [Wikipedia:Canine_distemper]
synonym: "canine distemper" EXACT [MESH:D004216]
synonym: "canine Distempers" RELATED [MESH:D004216]
synonym: "distemper, canine" RELATED [MESH:D004216]
synonym: "Distempers" RELATED [MESH:D004216]
synonym: "Distempers, canine" RELATED [MESH:D004216]
xref: MESH:D004216 {source="MONDO:equivalentTo"}
is_a: MONDO:0024919 {source="MESH:D004216"} ! dog disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-5002-8648"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0100332 NCBITaxon:11232 ! disease has primary infectious agent
property_value: RO:0002175 NCBITaxon:379584 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9443 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9681 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025404
name: coronaviral enteritis of turkeys
def: "An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus." [MESH:D004753]
synonym: "Bluecomb of turkeys" EXACT [MESH:D004753]
synonym: "coronaviral enteritis of turkeys" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188183/]
synonym: "enteritis, transmissible, of turkeys" EXACT [MESH:D004753]
synonym: "transmissible enteritis of turkeys" EXACT [MESH:D004753]
xref: MESH:D004753 {source="MONDO:equivalentTo"}
is_a: MONDO:0025113 {source="MESH:D004753"} ! poultry disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-5002-8648"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0100332 NCBITaxon:11152 ! disease has primary infectious agent Turkey coronavirus
relationship: in_taxon NCBITaxon:9103 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo

[Term]
id: MONDO:0025412
name: feline panleukopenia
def: "A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus." [MESH:D005254]
synonym: "agranulocytoses, Feline" RELATED [MESH:D005254]
synonym: "agranulocytosis, Feline" RELATED [MESH:D005254]
synonym: "ataxia, Feline" RELATED [MESH:D005254]
synonym: "ataxias, Feline" RELATED [MESH:D005254]
synonym: "Cat plague" RELATED [MESH:D005254]
synonym: "Cat Plagues" RELATED [MESH:D005254]
synonym: "distemper, Feline" RELATED [MESH:D005254]
synonym: "distempers, Feline" RELATED [MESH:D005254]
synonym: "enteritides, Feline infectious" RELATED [MESH:D005254]
synonym: "enteritis, Feline infectious" RELATED [MESH:D005254]
synonym: "Feline Agranulocytoses" RELATED [MESH:D005254]
synonym: "Feline agranulocytosis" RELATED [MESH:D005254]
synonym: "Feline ataxia" RELATED [MESH:D005254]
synonym: "Feline Ataxias" RELATED [MESH:D005254]
synonym: "Feline distemper" RELATED [MESH:D005254]
synonym: "Feline Distempers" RELATED [MESH:D005254]
synonym: "Feline infectious Enteritides" RELATED [MESH:D005254]
synonym: "Feline infectious enteritis" RELATED [MESH:D005254]
synonym: "Feline Panleukopenias" RELATED [MESH:D005254]
synonym: "fever, show" RELATED [MESH:D005254]
synonym: "fevers, show" RELATED [MESH:D005254]
synonym: "infectious Enteritides, Feline" RELATED [MESH:D005254]
synonym: "infectious enteritis, Feline" RELATED [MESH:D005254]
synonym: "Panleukopenia, Feline" RELATED [MESH:D005254]
synonym: "Panleukopenias, Feline" RELATED [MESH:D005254]
synonym: "plague, Cat" RELATED [MESH:D005254]
synonym: "plagues, Cat" RELATED [MESH:D005254]
synonym: "show fever" RELATED [MESH:D005254]
synonym: "show fevers" RELATED [MESH:D005254]
xref: MESH:D005254 {source="MONDO:equivalentTo"}
is_a: MONDO:0024912 {source="MESH:D005254"} ! cat disease
is_a: MONDO:0700206 {source="MESH:D005254"} ! Parvoviridae infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:9685 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025417
name: fowlpox
def: "A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts." [MESH:D005586]
synonym: "Bird pox" RELATED [MESH:D005586]
synonym: "Birdpox" RELATED [MESH:D005586]
synonym: "diphtheria, fowl" RELATED [MESH:D005586]
synonym: "Diphtherias, fowl" RELATED [MESH:D005586]
synonym: "epithelioma contagiosum" RELATED [MESH:D005586]
synonym: "fowl diphtheria" RELATED [MESH:D005586]
synonym: "fowl Diphtherias" RELATED [MESH:D005586]
synonym: "fowl pox" RELATED [MESH:D005586]
synonym: "pox, Bird" RELATED [MESH:D005586]
synonym: "pox, fowl" RELATED [MESH:D005586]
synonym: "Variola avium" RELATED [MESH:D005586]
xref: MESH:D005586 {source="MONDO:equivalentTo"}
is_a: MONDO:0024905 {source="MESH:D005586"} ! bird disease
relationship: in_taxon NCBITaxon:8782 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Aves

[Term]
id: MONDO:0025419
name: furunculosis
def: "A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida." [MESH:D005667]
synonym: "boils" RELATED [MESH:D005667]
synonym: "furuncle" RELATED [MESH:D005667]
synonym: "Furuncles" RELATED [MESH:D005667]
synonym: "Furunculoses" RELATED [MESH:D005667]
xref: MESH:D005667 {source="MONDO:equivalentTo"}
xref: NCIT:C34629 {source="MONDO:equivalentTo"}
is_a: MONDO:0024934 {source="MESH:D005667"} ! fish disease
property_value: RO:0002175 NCBITaxon:8015 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9606 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025420
name: gastroenteritis, transmissible, of swine
def: "A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus." [MESH:D005761]
synonym: "Gastroenteritides, porcine transmissible" RELATED [MESH:D005761]
synonym: "Gastroenteritides, swine transmissible" RELATED [MESH:D005761]
synonym: "Gastroenteritides, transmissible porcine" RELATED [MESH:D005761]
synonym: "gastroenteritis, porcine transmissible" RELATED [MESH:D005761]
synonym: "gastroenteritis, swine transmissible" RELATED [MESH:D005761]
synonym: "gastroenteritis, transmissible porcine" RELATED [MESH:D005761]
synonym: "gastroenteritis, transmissible, porcine" RELATED [MESH:D005761]
synonym: "porcine Gastroenteritides, transmissible" RELATED [MESH:D005761]
synonym: "porcine gastroenteritis, transmissible" RELATED [MESH:D005761]
synonym: "porcine transmissible Gastroenteritides" RELATED [MESH:D005761]
synonym: "porcine transmissible gastroenteritis" RELATED [MESH:D005761]
synonym: "swine transmissible Gastroenteritides" RELATED [MESH:D005761]
synonym: "swine transmissible gastroenteritis" RELATED [MESH:D005761]
synonym: "transmissible Gastroenteritides, porcine" RELATED [MESH:D005761]
synonym: "transmissible Gastroenteritides, swine" RELATED [MESH:D005761]
synonym: "transmissible gastroenteritis of swine" RELATED [MESH:D005761]
synonym: "transmissible gastroenteritis, porcine" RELATED [MESH:D005761]
synonym: "transmissible gastroenteritis, swine" RELATED [MESH:D005761]
synonym: "transmissible porcine Gastroenteritides" RELATED [MESH:D005761]
synonym: "transmissible porcine gastroenteritis" RELATED [MESH:D005761]
xref: MESH:D005761 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D005761"} ! swine disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-5002-8648"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0100332 NCBITaxon:11146 ! disease has primary infectious agent Porcine respiratory coronavirus
relationship: in_taxon NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Sus scrofa

[Term]
id: MONDO:0025425
name: hepatitis, infectious canine
def: "A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea." [MESH:D006522]
synonym: "canine Hepatitides, infectious" RELATED [MESH:D006522]
synonym: "canine Hepatitis, infectious" RELATED [MESH:D006522]
synonym: "canine infectious Hepatitides" RELATED [MESH:D006522]
synonym: "canine infectious Hepatitis" RELATED [MESH:D006522]
synonym: "Hepatitides, canine infectious" RELATED [MESH:D006522]
synonym: "Hepatitides, infectious canine" RELATED [MESH:D006522]
synonym: "Hepatitis, canine infectious" RELATED [MESH:D006522]
synonym: "infectious canine Hepatitides" RELATED [MESH:D006522]
synonym: "infectious canine Hepatitis" RELATED [MESH:D006522]
synonym: "infectious Hepatitides, canine" RELATED [MESH:D006522]
synonym: "infectious Hepatitis, canine" RELATED [MESH:D006522]
xref: MESH:D006522 {source="MONDO:equivalentTo"}
is_a: MONDO:0024919 {source="MESH:D006522"} ! dog disease
is_a: MONDO:0025085 {source="MESH:D006522"} ! hepatitis, viral, animal
property_value: RO:0002175 NCBITaxon:9608 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9615 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9639 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025431
name: keratoconjunctivitis, infectious
def: "Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia." [MESH:D007639]
synonym: "infectious Keratoconjunctivitides" RELATED [MESH:D007639]
synonym: "infectious keratoconjunctivitis" RELATED [MESH:D007639]
synonym: "Keratoconjunctivitides, infectious" RELATED [MESH:D007639]
xref: MESH:D007639 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D007639"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0024985 ! sheep disease
is_a: MONDO:0025003 ! goat disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: MONDO:0700097 MONDO:0004768 {source="MESH:D007639"} ! cross-species analog keratoconjunctivitis
property_value: RO:0002175 NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9925 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025445
name: Wieacker-Wolff syndrome (spectrum)
comment: Grouping for the X-linked form seen mostly in males and female-restricted
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ZARD" EXACT ABBREVIATION [https://orcid.org/0000-0001-9310-0163]
synonym: "ZC4H2-associated disorder" EXACT [https://rarediseases.org/rare-diseases/zard/#references]
synonym: "ZC4H2-associated rare disorders" EXACT [https://orcid.org/0000-0001-9310-0163]
xref: OMIMPS:314580 {source="MONDO:equivalentTo"}
is_a: MONDO:0015168 {source="Orphanet:3454-generalized"} ! arthrogryposis multiplex congenita
is_a: MONDO:0020120 {source="Orphanet:3454-generalized"} ! skeletal muscle disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:314580"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7217" xsd:anyURI

[Term]
id: MONDO:0025449
name: paratuberculosis
def: "A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis." [MESH:D010283]
synonym: "disease, Johne" RELATED [MESH:D010283]
synonym: "disease, Johne's" RELATED [MESH:D010283]
synonym: "Johne disease" RELATED [MESH:D010283]
synonym: "Johne's disease" RELATED [MESH:D010283]
synonym: "Johnes disease" RELATED [MESH:D010283]
synonym: "Paratuberculoses" RELATED [MESH:D010283]
xref: MESH:D010283 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D010283"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
property_value: RO:0002175 NCBITaxon:9845 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025453
name: pneumonia, progressive interstitial, of sheep
def: "Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity." [MESH:D011021]
synonym: "Maedi" RELATED [MESH:D011021]
synonym: "progressive interstitial pneumonia of sheep" RELATED [MESH:D011021]
xref: MESH:D011021 {source="MONDO:equivalentTo"}
is_a: MONDO:0024985 {source="MESH:D011021"} ! sheep disease
relationship: in_taxon NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Ovis aries

[Term]
id: MONDO:0025457
name: pulmonary adenomatosis, ovine
def: "A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus." [MESH:D011648]
synonym: "Adenomatoses, Ovine pulmonary" RELATED [MESH:D011648]
synonym: "Adenomatoses, pulmonary Ovine" RELATED [MESH:D011648]
synonym: "adenomatosis, Ovine pulmonary" RELATED [MESH:D011648]
synonym: "adenomatosis, pulmonary Ovine" RELATED [MESH:D011648]
synonym: "adenomatosis, pulmonary, Ovine" RELATED [MESH:D011648]
synonym: "carcinoma, Ovine pulmonary" RELATED [MESH:D011648]
synonym: "carcinomas, Ovine pulmonary" RELATED [MESH:D011648]
synonym: "Jaagsiekte" RELATED [MESH:D011648]
synonym: "Ovine Adenomatoses, pulmonary" RELATED [MESH:D011648]
synonym: "Ovine adenomatosis, pulmonary" RELATED [MESH:D011648]
synonym: "Ovine pulmonary Adenomatoses" RELATED [MESH:D011648]
synonym: "Ovine pulmonary adenomatosis" RELATED [MESH:D011648]
synonym: "Ovine pulmonary carcinoma" RELATED [MESH:D011648]
synonym: "Ovine pulmonary carcinomas" RELATED [MESH:D011648]
synonym: "pulmonary Adenomatoses, Ovine" RELATED [MESH:D011648]
synonym: "pulmonary carcinoma, Ovine" RELATED [MESH:D011648]
synonym: "pulmonary carcinomas, Ovine" RELATED [MESH:D011648]
synonym: "pulmonary Ovine Adenomatoses" RELATED [MESH:D011648]
synonym: "pulmonary Ovine adenomatosis" RELATED [MESH:D011648]
xref: MESH:D011648 {source="MONDO:equivalentTo"}
is_a: MONDO:0024985 {source="MESH:D011648"} ! sheep disease
is_a: MONDO:0700099 ! adenocarcinoma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: RO:0002175 NCBITaxon:9940 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"}

[Term]
id: MONDO:0025459
name: rinderpest
def: "A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010." [MESH:D012301]
synonym: "cattle plague" RELATED [MESH:D012301]
synonym: "plague, cattle" RELATED [MESH:D012301]
xref: MESH:D012301 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D012301"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
relationship: in_taxon NCBITaxon:91561 {source="ISBN-13:978-0323088398", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Artiodactyla

[Term]
id: MONDO:0025478
name: venereal tumors, veterinary
def: "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur." [MESH:D014685]
synonym: "transmissible venereal tumor" RELATED [MESH:D014685]
synonym: "transmissible venereal tumors" RELATED [MESH:D014685]
synonym: "transmissible venereal tumour" RELATED OMO:0003005 []
synonym: "transmissible venereal tumours" RELATED OMO:0003005 []
synonym: "tumor, transmissible venereal" RELATED [MESH:D014685]
synonym: "tumor, veterinary venereal" RELATED [MESH:D014685]
synonym: "tumors, transmissible venereal" RELATED [MESH:D014685]
synonym: "tumors, veterinary venereal" RELATED [MESH:D014685]
synonym: "venereal tumor, transmissible" RELATED [MESH:D014685]
synonym: "venereal tumor, veterinary" RELATED [MESH:D014685]
synonym: "venereal tumors, transmissible" RELATED [MESH:D014685]
synonym: "veterinary venereal tumor" RELATED [MESH:D014685]
synonym: "veterinary venereal tumors" RELATED [MESH:D014685]
synonym: "veterinary venereal tumour" RELATED OMO:0003005 []
synonym: "veterinary venereal tumours" RELATED OMO:0003005 []
xref: MESH:D014685 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D014685"} ! non-human animal disease
is_a: MONDO:0700098 ! neoplasm, non-human animal

[Term]
id: MONDO:0025481
name: obsolete zoonosis
def: "OBSOLETE. An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc)." [MESH:D015047, Wikipedia:Zoonosis]
comment: Reason of obsoletion: out of scope - MONDO:excludeEvent. Term to consider: -
synonym: "disease, zoonotic" RELATED [MESH:D015047]
synonym: "disease, zoonotic infectious" RELATED [MESH:D015047]
synonym: "diseases, zoonotic" RELATED [MESH:D015047]
synonym: "diseases, zoonotic infectious" RELATED [MESH:D015047]
synonym: "infection, zoonotic" RELATED [MESH:D015047]
synonym: "infections, zoonotic" RELATED [MESH:D015047]
synonym: "infectious disease, zoonotic" RELATED [MESH:D015047]
synonym: "infectious diseases, zoonotic" RELATED [MESH:D015047]
synonym: "zoonoses" EXACT [https://orcid.org/0000-0002-2825-0621]
synonym: "zoonotic disease" EXACT [https://orcid.org/0000-0002-2825-0621, MESH:D015047]
synonym: "zoonotic diseases" EXACT [MESH:D015047]
synonym: "zoonotic infection" EXACT [https://orcid.org/0000-0002-2825-0621, MESH:D015047, NCIT:C35803]
synonym: "zoonotic infections" EXACT [MESH:D015047]
synonym: "zoonotic infectious disease" RELATED [MESH:D015047]
synonym: "zoonotic infectious diseases" RELATED [MESH:D015047]
xref: MESH:D015047 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C35803 {source="MONDO:obsoleteEquivalent"}
xref: Wikipedia:Zoonosis
relationship: excluded_subClassOf MONDO:0005108 {source="MESH:D015047", source="https://orcid.org/0000-0001-5208-3432"} ! viral infectious disease
relationship: excluded_subClassOf MONDO:0005135 {source="MESH:D015047", source="https://orcid.org/0000-0001-5208-3432"} ! parasitic infectious disease
relationship: excluded_subClassOf MONDO:0005583 {source="MESH:D015047", source="https://orcid.org/0000-0001-5208-3432"} ! non-human animal disease
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeEvent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5898" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0025483
name: mammary neoplasms, animal
def: "Tumors or cancer of the mammary gland in animals (mammary glands, animal)." [MESH:D015674]
synonym: "animal mammary carcinoma" RELATED [MESH:D015674]
synonym: "animal mammary carcinomas" RELATED [MESH:D015674]
synonym: "animal mammary neoplasm" RELATED [MESH:D015674]
synonym: "animal mammary neoplasms" RELATED [MESH:D015674]
synonym: "carcinoma, animal mammary" RELATED [MESH:D015674]
synonym: "carcinomas, animal mammary" RELATED [MESH:D015674]
synonym: "mammary carcinoma, animal" RELATED [MESH:D015674]
synonym: "mammary carcinomas, animal" RELATED [MESH:D015674]
synonym: "mammary neoplasm" RELATED [MESH:D015674]
synonym: "mammary neoplasm, animal" RELATED [MESH:D015674]
synonym: "mammary neoplasms" RELATED [MESH:D015674]
synonym: "neoplasm, animal mammary" RELATED [MESH:D015674]
synonym: "neoplasm, mammary" RELATED [MESH:D015674]
synonym: "neoplasms, animal mammary" RELATED [MESH:D015674]
synonym: "neoplasms, mammary" RELATED [MESH:D015674]
xref: MESH:D015674 {source="MONDO:equivalentTo"}
xref: OMIA:001777 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D015674", source="OMIA:001777"} ! non-human animal disease
is_a: MONDO:0700098 ! neoplasm, non-human animal
is_a: MONDO:1011305 {source="OMIA:001777", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
relationship: in_taxon NCBITaxon:40674 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Mammalia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:0025484
name: simian acquired immunodeficiency syndrome
def: "Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus." [MESH:D016097]
synonym: "AIDS, Simian" RELATED [MESH:D016097]
synonym: "AIDSs, Simian" RELATED [MESH:D016097]
synonym: "SAIDS" RELATED ABBREVIATION [MESH:D016097]
synonym: "Simian acquired immune deficiency syndrome" RELATED [MESH:D016097]
synonym: "Simian acquired immuno deficiency syndrome" RELATED [MESH:D016097]
synonym: "Simian acquired immuno-deficiency syndrome" RELATED [MESH:D016097]
synonym: "Simian AIDS" RELATED [MESH:D016097]
synonym: "Simian AIDSs" RELATED [MESH:D016097]
synonym: "Simian immunodeficiency virus caused monkey disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Simian immunodeficiency virus monkey disease" EXACT []
xref: MESH:D016097 {source="MONDO:equivalentTo"}
is_a: MONDO:0025102 {source="MESH:D016097", source="MONDO:Redundant"} ! monkey disease
intersection_of: MONDO:0700106 ! immune system disorder, non-human animal
intersection_of: disease_arises_from_feature MONDO:0005163 ! simian immunodeficiency virus infection
relationship: MONDO:0700097 MONDO:0017769 ! cross-species analog acquired immunodeficiency
property_value: RO:0002175 NCBITaxon:9539 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9592 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9596 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025485
name: feline acquired immunodeficiency syndrome
def: "Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv)." [MESH:D016181]
comment: Editor note: consider separate class for infectious disease
synonym: "AIDS, Feline" RELATED [MESH:D016181]
synonym: "FAIDS" RELATED ABBREVIATION [MESH:D016181]
synonym: "Feline acquired immune deficiency syndrome" RELATED [MESH:D016181]
synonym: "Feline acquired immuno deficiency syndrome" RELATED [MESH:D016181]
synonym: "Feline acquired immuno-deficiency syndrome" RELATED [MESH:D016181]
synonym: "Feline AIDS" RELATED [MESH:D016181]
synonym: "Feline immunodeficiency virus cat disease" EXACT []
synonym: "Feline immunodeficiency virus caused cat disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
xref: MESH:D016181 {source="MONDO:equivalentTo"}
is_a: MONDO:0024912 {source="MESH:D016181", source="MONDO:Redundant"} ! cat disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-5002-8648"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: in_taxon NCBITaxon:9681 ! Felidae
intersection_of: MONDO:0100332 NCBITaxon:11673 ! disease has primary infectious agent Feline immunodeficiency virus
relationship: in_taxon NCBITaxon:9681 {source="PMID:1382145", source="PMID:9364228", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Felidae
relationship: MONDO:0700097 MONDO:0017769 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog acquired immunodeficiency

[Term]
id: MONDO:0025487
name: murine acquired immunodeficiency syndrome
def: "Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas." [MESH:D016183]
synonym: "AIDS, murine" RELATED [MESH:D016183]
synonym: "MAIDS" RELATED ABBREVIATION [MESH:D016183]
synonym: "murine acquired immune deficiency syndrome" RELATED [MESH:D016183]
synonym: "murine acquired immuno deficiency syndrome" RELATED [MESH:D016183]
synonym: "murine acquired immuno-deficiency syndrome" RELATED [MESH:D016183]
synonym: "murine AIDS" RELATED [MESH:D016183]
synonym: "murine AIDSs" RELATED [MESH:D016183]
xref: MESH:D016183 {source="MONDO:equivalentTo"}
is_a: MONDO:0024981 {source="MESH:D016183"} ! rodent disease
is_a: MONDO:0700106 ! immune system disorder, non-human animal
relationship: in_taxon NCBITaxon:10090 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Mus musculus
relationship: MONDO:0700097 MONDO:0017769 ! cross-species analog acquired immunodeficiency

[Term]
id: MONDO:0025488
name: leukemia, feline
def: "A neoplastic disease of cats frequently associated with feline leukemia virus infection." [MESH:D016582]
synonym: "Feline leukaemia" RELATED OMO:0003005 []
synonym: "Feline leukemia" RELATED [MESH:D016582]
synonym: "Feline leukemias" RELATED [MESH:D016582]
synonym: "leukemias, Feline" RELATED [MESH:D016582]
xref: MESH:D016582 {source="MONDO:equivalentTo"}
is_a: MONDO:0024912 {source="MESH:D016582"} ! cat disease
is_a: MONDO:0700100 ! leukemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0005059 ! cross-species analog leukemia
relationship: in_taxon NCBITaxon:9682 {source="PMID:10766116", source="PMID:9364228", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Felis
relationship: MONDO:0700097 MONDO:0005059 {source="MESH:D016582"} ! cross-species analog leukemia

[Term]
id: MONDO:0025489
name: enzootic bovine leukosis
def: "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." [MESH:D016583]
synonym: "bovine leukaemia" RELATED OMO:0003005 []
synonym: "bovine leukemia" RELATED [MESH:D016583]
synonym: "bovine leukemias" RELATED [MESH:D016583]
synonym: "bovine Leukoses" RELATED [MESH:D016583]
synonym: "bovine Leukoses, enzootic" RELATED [MESH:D016583]
synonym: "bovine leukosis" RELATED [MESH:D016583]
synonym: "bovine leukosis, enzootic" RELATED [MESH:D016583]
synonym: "bovine lymphoma" RELATED [MESH:D016583]
synonym: "bovine Lymphomas" RELATED [MESH:D016583]
synonym: "bovine lymphosarcoma" RELATED [MESH:D016583]
synonym: "bovine Lymphosarcomas" RELATED [MESH:D016583]
synonym: "enzootic bovine Leukoses" RELATED [MESH:D016583]
synonym: "leukemia, bovine" RELATED [MESH:D016583]
synonym: "leukemias, bovine" RELATED [MESH:D016583]
synonym: "leukoses, bovine" RELATED [MESH:D016583]
synonym: "leukoses, enzootic bovine" RELATED [MESH:D016583]
synonym: "leukosis, bovine" RELATED [MESH:D016583]
synonym: "leukosis, enzootic bovine" RELATED [MESH:D016583]
synonym: "lymphoma, bovine" RELATED [MESH:D016583]
synonym: "lymphomas, bovine" RELATED [MESH:D016583]
synonym: "lymphosarcoma, bovine" RELATED [MESH:D016583]
synonym: "lymphosarcomas, bovine" RELATED [MESH:D016583]
xref: MESH:D016583 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="MESH:D016583"} ! cattle disease
is_a: MONDO:0700100 ! leukemia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Bos taurus
relationship: MONDO:0700097 MONDO:0005059 ! cross-species analog leukemia

[Term]
id: MONDO:0025491
name: feline infectious peritonitis
def: "Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis." [MESH:D016766]
synonym: "feline infectious peritonitides" EXACT [MESH:D016766]
synonym: "FIP" EXACT ABBREVIATION [https://www.vet.cornell.edu/departments-centers-and-institutes/cornell-feline-health-center/health-information/feline-health-topics/feline-infectious-peritonitis]
synonym: "infectious peritonitides, feline" EXACT [MESH:D016766]
synonym: "infectious peritonitis, feline" EXACT [MESH:D016766]
synonym: "peritonitis, feline infectious" EXACT [MESH:D016766]
synonym: "peritonitis, infectious, feline" EXACT [MESH:D016766]
xref: MESH:D016766 {source="MONDO:equivalentTo"}
is_a: MONDO:0024912 {source="MESH:D016766"} ! cat disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-5002-8648"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: in_taxon NCBITaxon:9681 ! Felidae
intersection_of: MONDO:0100332 NCBITaxon:11135 ! disease has primary infectious agent Feline infectious peritonitis virus
relationship: in_taxon NCBITaxon:9681 {source="PMID:9364228", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Felidae

[Term]
id: MONDO:0025494
name: porcine reproductive and respiratory syndrome
def: "A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)" [MESH:D019318]
synonym: "blue eared pig disease" EXACT [MESH:D019318]
synonym: "blue-eared pig disease" EXACT [MESH:D019318]
synonym: "mystery swine disease" EXACT [MESH:D019318]
synonym: "pig disease, blue-eared" EXACT [MESH:D019318]
synonym: "porcine epidemic abortion and respiratory syndrome" EXACT [MESH:D019318]
synonym: "PRRS" EXACT ABBREVIATION [MESH:D019318]
synonym: "swine disease, mystery" RELATED [MESH:D019318]
synonym: "swine infertility and respiratory syndrome" EXACT [MESH:D019318]
xref: MESH:D019318 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="MESH:D019318"} ! swine disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-5002-8648"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0100332 NCBITaxon:28344 ! disease has primary infectious agent Porcine reproductive and respiratory syndrome virus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa

[Term]
id: MONDO:0025505
name: mink viral enteritis
def: "A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route." [MESH:D053489]
synonym: "enteritides, mink viral" EXACT [MESH:D053489]
synonym: "enteritis, infectious, of mink" EXACT [MESH:D053489]
synonym: "enteritis, mink viral" EXACT [MESH:D053489]
synonym: "mink viral enteritides" EXACT [MESH:D053489]
synonym: "viral enteritides, mink" EXACT [MESH:D053489]
synonym: "viral enteritis, mink" EXACT [MESH:D053489]
xref: MESH:D053489 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="MESH:D053489"} ! non-human animal disease
is_a: MONDO:0700206 {source="MESH:D053489"} ! Parvoviridae infectious disease, non-human animal
relationship: in_taxon NCBITaxon:169418 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Mustelinae

[Term]
id: MONDO:0025506
name: porcine postweaning multisystemic wasting syndrome
def: "A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2." [MESH:D053570]
synonym: "postweaning multisystemic wasting syndrome" EXACT [MONDO:0006051]
synonym: "postweaning multisystemic wasting syndrome, porcine" EXACT [MESH:D053570]
xref: MESH:D053570 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="EFO:1000048"} ! non-human animal disease
is_a: MONDO:0024990 {source="MESH:D053570"} ! swine disease
is_a: MONDO:0700053 {source="https://orcid.org/0000-0002-5002-8648"} ! viral infectious disease, non-human animal
intersection_of: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: disease_has_infectious_agent NCBITaxon:85708 ! Porcine circovirus 2
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
relationship: in_taxon NCBITaxon:9823 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5294" xsd:anyURI

[Term]
id: MONDO:0025510
name: pythiosis, non-human animal
def: "A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, and fishes. It is classified into three forms: ocular, cutaneous, and arterial." [MESH:D058968] {source="https://www.merckvetmanual.com/generalized-conditions/fungal-infections/oomycosis-in-animals", source="https://orcid.org/0000-0002-5002-8648"}
xref: MESH:D058968 {source="MONDO:mondoIsNarrowerThanSource"}
is_a: MONDO:0700049 {source="MESH:D058968", source="MESH:D058968/inferred"} ! infectious disease, non-human animal
property_value: RO:0002175 NCBITaxon:32443 {source="PMID:31845178", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9615 {source="PMID:31845178", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9685 {source="PMID:31845178", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9796 {source="PMID:31845178", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}
property_value: RO:0002175 NCBITaxon:9913 {source="PMID:31845178", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"}

[Term]
id: MONDO:0025511
name: obsolete inherited neuroendocrine tumor
def: "OBSOLETE. An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:271847"}
synonym: "genetic neuroendocrine tumor" RELATED [Orphanet:271847]
synonym: "genetic neuroendocrine tumour" RELATED OMO:0003005 []
synonym: "hereditary neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary]
xref: GARD:21015 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:271847 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0025512
name: type II hypersensitivity reaction disease
def: "A disease that has its basis in the disruption of type II hypersensitivity." [MONDO:patterns/basis_in_disruption_of_process]
comment: Note that DO combines autoimmune and type II hypersensitivity in one concept (2018-06-22). Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "disorder of type II hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "type II hypersensitivity disease" EXACT [MONDO:design_pattern]
xref: DOID:417 {source="MONDO:relatedTo"}
is_a: MONDO:0000605 {source="EFO:0005809", source="MONDO:indirect"} ! hypersensitivity reaction disease
is_a: MONDO:0007179 ! autoimmune disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0002445 ! type II hypersensitivity
relationship: excluded_subClassOf MONDO:0005046 {source="EFO:0005809", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0025513
name: autoimmune urticaria
def: "An autoimmune form of urticaria (disease)." [MONDO:patterns/autoimmune]
synonym: "autoimmune urticaria" EXACT []
synonym: "autoimmune urticaria (disease)" EXACT []
xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:725554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:402397006 {source="MONDO:equivalentTo"}
xref: UMLS:C1304191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:725554"}
intersection_of: MONDO:0005492 ! urticaria
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0025514
name: livedoid vasculopathy
def: "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." [GARD:0012784]
subset: gard_rare {source="GARD:12784", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:542643"}
subset: orphanet_rare {source="Orphanet:542643"}
subset: rare
synonym: "idiopathic atrophic blanche" RELATED []
synonym: "livedo reticularis with summer ulcerations" RELATED [GARD:0012784]
synonym: "livedo reticularis with winter ulcerations" RELATED [GARD:0012784]
synonym: "livedo vasculitis" RELATED [GARD:0012784]
synonym: "livedoid vasculitis" EXACT [GARD:0012784]
synonym: "livedoid vasculopathy" EXACT [DOID:0040099]
synonym: "segmental hyalinizing vasculopathy" RELATED [GARD:0012784]
synonym: "white atrophy" RELATED []
xref: DOID:0040099 {source="MONDO:equivalentTo"}
xref: GARD:12784 {source="MONDO:GARD"}
xref: ICD10CM:L95.0 {source="MONDO:equivalentTo", source="DOID:0040099"}
xref: icd11.foundation:1237292304 {source="Orphanet:542643", source="MONDO:equivalentTo"}
xref: ICD9:709.1 {source="GARD:0012784"}
xref: ICD9CM:709.1 {source="DOID:0040099"}
xref: MEDGEN:575376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000090122 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: Orphanet:542643 {source="MONDO:equivalentTo"}
xref: SCTID:238762002 {source="MONDO:equivalentTo"}
xref: UMLS:C0343081 {source="MEDGEN:575376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018882 {source="DOID:0040099", source="MONDO:Redundant"} ! vasculitis
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_has_feature HP:0000979 ! Purpura
relationship: disease_has_location UBERON:0003532 ! hindlimb skin
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0025517
name: obsolete shrimp allergy
def: "OBSOLETE. A allergic disease involving a shrimp food product." [MONDO:patterns/allergy]
synonym: "allergy of shrimp food product" EXACT [MONDO:patterns/allergy]
synonym: "shrimp food product allergic disease" EXACT []
xref: DOID:0040001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0025518
name: obsolete aspirin allergy
def: "OBSOLETE. A allergic disease involving a acetylsalicylic acid." [MONDO:patterns/allergy]
synonym: "acetylsalicylic acid allergic disease" EXACT []
synonym: "acetylsalicylic acid allergy" EXACT [DOID:0040002]
synonym: "allergy of acetylsalicylic acid" EXACT [MONDO:patterns/allergy]
synonym: "ASA allergy" EXACT [DOID:0040002]
xref: DOID:0040002 {source="MONDO:obsoleteEquivalent"}
xref: ICD9:995.27 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: IEDB:RV {source="DOID:0040002"}
xref: SCTID:293586001 {source="DOID:0040002", source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0025556
name: isocyanate induced asthma
synonym: "isocyanates allergic asthma" RELATED [DOID:0040041]
xref: DOID:0040041 {source="MONDO:equivalentTo"}
xref: ICD9:506.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:729881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:404808000 {source="MONDO:equivalentTo"}
xref: UMLS:C1321273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:729881"}
is_a: MONDO:0004784 {source="DOID:0040041"} ! allergic asthma
intersection_of: MONDO:0004979 ! asthma
intersection_of: realized_in_response_to_stimulus CHEBI:53212 ! isocyanates

[Term]
id: MONDO:0025598
name: pneumonia caused by chlamydia
def: "An pneumonia caused by infection with Chlamydia." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydia caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Chlamydia pneumonia" EXACT []
synonym: "chlamydia pneumonia" EXACT []
synonym: "chlamydial pneumonia" EXACT []
xref: DOID:0040083 {source="MONDO:equivalentTo"}
xref: ICD10CM:J16.0 {source="DOID:0040083"}
xref: ICD9:483.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0040083"}
xref: MEDGEN:452440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D061387 {source="MONDO:equivalentTo"}
xref: SCTID:233609002 {source="MONDO:equivalentTo"}
xref: UMLS:C0339959 {source="MEDGEN:452440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004652 {source="DOID:0040083", source="MESH:D061387", source="MONDO:Redundant"} ! bacterial pneumonia
is_a: MONDO:0005701 ! chlamydia trachomatis infectious disease
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:810 ! Chlamydia

[Term]
id: MONDO:0025622
name: Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMTMA1" EXACT ABBREVIATION [OMIM:500013]
xref: MEDGEN:1731194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:500013 {source="MONDO:equivalentTo"}
xref: UMLS:C5435765 {source="MEDGEN:1731194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="OMIM:500013"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0025667
name: limbal stem cell deficiency
subset: gard_rare {source="GARD:20123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171673"}
subset: orphanet_rare {source="Orphanet:171673"}
subset: rare
xref: GARD:20123 {source="MONDO:GARD"}
xref: MEDGEN:295775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:171673 {source="MONDO:equivalentTo"}
xref: UMLS:C1561989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:295775"}
is_a: MONDO:0000942 {source="Orphanet:171673"} ! corneal disorder

[Term]
id: MONDO:0025690
name: microcephaly, epilepsy, and diabetes syndrome 2
subset: gard_rare {source="GARD:18439", source="MONDO:GARD"}
subset: rare
synonym: "MEDS2" EXACT ABBREVIATION [OMIM:619278]
xref: GARD:18439 {source="MONDO:GARD"}
xref: MEDGEN:1782107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619278 {source="MONDO:equivalentTo"}
xref: UMLS:C5543294 {source="MEDGEN:1782107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100328 {source="OMIM:619278"} ! microcephaly, epilepsy, and diabetes syndrome

[Term]
id: MONDO:0025691
name: dystonia 30
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DYT30" EXACT ABBREVIATION [OMIM:619291]
xref: DOID:0060937 {source="MONDO:equivalentTo"}
xref: MEDGEN:1785079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619291 {source="MONDO:equivalentTo"}
xref: UMLS:C5543312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785079"}
is_a: MONDO:0044807 {source="OMIM:619291"} ! inherited dystonia

[Term]
id: MONDO:0025699
name: Coffin-Siris syndrome 12
subset: gard_rare {source="GARD:16443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CSS12" EXACT ABBREVIATION [OMIM:619325]
xref: DOID:0112370 {source="MONDO:equivalentTo"}
xref: GARD:16443 {source="MONDO:GARD"}
xref: MEDGEN:1782096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619325 {source="MONDO:equivalentTo"}
xref: UMLS:C5444111 {source="MONDO:equivalentTo", source="MEDGEN:1782096", source="MONDO:MEDGEN"}
is_a: MONDO:0015452 {source="OMIM:619325"} ! Coffin-Siris syndrome

[Term]
id: MONDO:0025701
name: leukodystrophy, hypomyelinating, 22
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD22" EXACT ABBREVIATION [OMIM:619328]
xref: DOID:0070402 {source="MONDO:equivalentTo"}
xref: MEDGEN:1787833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619328 {source="MONDO:equivalentTo"}
xref: UMLS:C5543406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787833"}
is_a: MONDO:0019046 {source="OMIM:619328"} ! leukodystrophy

[Term]
id: MONDO:0025708
name: megacystis-microcolon-intestinal hypoperistalsis syndrome 2
subset: gard_rare {source="GARD:16447", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MMIHS2" EXACT ABBREVIATION [OMIM:619351]
xref: GARD:16447 {source="MONDO:GARD"}
xref: MEDGEN:1788773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619351 {source="MONDO:equivalentTo"}
xref: UMLS:C5543476 {source="MONDO:equivalentTo", source="MEDGEN:1788773", source="MONDO:MEDGEN"}
is_a: MONDO:0025986 {source="OMIM:619351"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome

[Term]
id: MONDO:0025712
name: angioedema, hereditary, 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HAE4" EXACT ABBREVIATION [OMIM:619360]
xref: MEDGEN:1787336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619360 {source="MONDO:equivalentTo"}
xref: UMLS:C5543503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787336"}
is_a: MONDO:0019623 {source="OMIM:619360"} ! hereditary angioedema

[Term]
id: MONDO:0025713
name: angioedema, hereditary, 7
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HAE7" EXACT ABBREVIATION [OMIM:619366]
xref: MEDGEN:1784046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619366 {source="MONDO:equivalentTo"}
xref: UMLS:C5543526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784046"}
is_a: MONDO:0019623 {source="OMIM:619366"} ! hereditary angioedema

[Term]
id: MONDO:0025956
name: ovarian remnant syndrome
def: "Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function." [GARD:0007297]
xref: MEDGEN:78780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0271614 {source="MEDGEN:78780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005558 ! ovarian disorder

[Term]
id: MONDO:0025986
name: megacystis-microcolon-intestinal hypoperistalsis syndrome
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:296125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:249210 {source="MONDO:equivalentTo"}
xref: UMLS:C1608393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:296125"}
is_a: MONDO:0002254 {source="DOID:0060610", source="MONDO:Redundant", source="NCIT:C98982", source="OMIMPS:249210"} ! syndromic disease
is_a: MONDO:0021189 {source="OMIMPS:249210", source="Orphanet:2241"} ! intestinal motility disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:249210"} ! inherited

[Term]
id: MONDO:0026045
name: prurigo nodularis
def: "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities." [GARD:0007480]
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:120471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0263353 {source="MEDGEN:120471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 ! skin disorder

[Term]
id: MONDO:0026141
name: obsolete genetic urticaria
subset: ordo_group_of_disorders {source="Orphanet:182734"}
xref: GARD:20258 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:182734 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true
consider: MONDO:0005492

[Term]
id: MONDO:0026150
name: obsolete genetic erythrokeratoderma
subset: ordo_group_of_disorders {source="Orphanet:183438"}
xref: GARD:20262 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183438 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true
consider: MONDO:0019270

[Term]
id: MONDO:0026151
name: obsolete genetic acrokeratoderma
subset: ordo_group_of_disorders {source="Orphanet:183441"}
xref: GARD:20263 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183441 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026152
name: obsolete genetic porokeratosis
subset: ordo_group_of_disorders {source="Orphanet:183444"}
xref: GARD:20264 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183444 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026157
name: obsolete genetic pigmentation anomaly of the skin
subset: ordo_group_of_disorders {source="Orphanet:183463"}
xref: GARD:20269 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183463 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026160
name: obsolete genetic dermis disorder
subset: ordo_group_of_disorders {source="Orphanet:183472"}
xref: GARD:20272 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183472 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true
consider: MONDO:0021154

[Term]
id: MONDO:0026166
name: obsolete genetic immune deficiency with skin involvement
subset: ordo_group_of_disorders {source="Orphanet:183494"}
xref: GARD:20278 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183494 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true
consider: MONDO:0009453

[Term]
id: MONDO:0026167
name: obsolete genetic neuromuscular disease
subset: ordo_group_of_disorders {source="Orphanet:183497"}
xref: GARD:20279 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183497 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true
consider: MONDO:0019056
consider: MONDO:0100167

[Term]
id: MONDO:0026170
name: obsolete genetic central nervous system malformation
subset: ordo_group_of_disorders {source="Orphanet:183506"}
xref: GARD:20282 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183506 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true
consider: MONDO:0020022

[Term]
id: MONDO:0026173
name: obsolete rare genetic medullar disease
subset: ordo_group_of_disorders {source="Orphanet:183515"}
xref: GARD:20285 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183515 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026180
name: obsolete genetic congenital limb malformation
subset: ordo_group_of_disorders {source="Orphanet:183536"}
xref: GARD:20292 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183536 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026181
name: obsolete genetic renal or urinary tract malformation
subset: ordo_group_of_disorders {source="Orphanet:183539"}
xref: GARD:20293 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183539 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026182
name: obsolete genetic cranial malformation
subset: ordo_group_of_disorders {source="Orphanet:183542"}
xref: GARD:20294 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183542 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026183
name: obsolete genetic digestive tract malformation
subset: ordo_group_of_disorders {source="Orphanet:183545"}
xref: GARD:20295 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183545 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026184
name: obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen
subset: ordo_group_of_disorders {source="Orphanet:183548"}
xref: GARD:20296 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183548 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026185
name: obsolete genetic respiratory or mediastinal malformation
subset: ordo_group_of_disorders {source="Orphanet:183554"}
xref: GARD:20297 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183554 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026186
name: obsolete genetic developmental defect of the eye
subset: ordo_group_of_disorders {source="Orphanet:183557"}
xref: GARD:20298 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183557 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026187
name: obsolete genetic malformation syndrome with short stature
subset: ordo_group_of_disorders {source="Orphanet:183570"}
xref: GARD:20299 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183570 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026188
name: obsolete genetic overgrowth/obesity syndrome
subset: ordo_group_of_disorders {source="Orphanet:183573"}
xref: GARD:20300 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183573 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026189
name: obsolete genetic branchial arch or oral-acral syndrome
subset: ordo_group_of_disorders {source="Orphanet:183576"}
xref: GARD:20301 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183576 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026190
name: obsolete genetic malformation syndrome with odontal and/or periodontal component
subset: ordo_group_of_disorders {source="Orphanet:183580"}
xref: GARD:20302 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183580 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026192
name: obsolete genetic glomerular disease
subset: ordo_group_of_disorders {source="Orphanet:183586"}
xref: GARD:20304 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183586 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026193
name: obsolete genetic thrombotic microangiopathy
subset: ordo_group_of_disorders {source="Orphanet:183589"}
xref: GARD:20305 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183589 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026203
name: obsolete genetic respiratory malformation
subset: ordo_group_of_disorders {source="Orphanet:183622"}
xref: GARD:20311 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183622 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026209
name: obsolete genetic polyendocrinopathy
subset: ordo_group_of_disorders {source="Orphanet:183643"}
xref: GARD:20317 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183643 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026404
name: X inactivation, familial skewed, 1
synonym: "SXI1" RELATED ABBREVIATION [OMIM:300087]
synonym: "X INACTIVATION, FAMILIAL SKEWED, 1" RELATED [OMIM:300087]
synonym: "X inactivation, familial skewed, 1" EXACT CLINGEN_LABEL []
synonym: "X-inactivation, familial skewed" EXACT [OMIM:300087, OMIM:genemap2]
synonym: "X-inactivation, familial skewed, 1" EXACT [OMIM:300087]
xref: MEDGEN:338394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564716 {source="MONDO:equivalentTo"}
xref: OMIM:300087 {source="MONDO:equivalentTo"}
xref: UMLS:C1848138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338394"}
is_a: MONDO:0100209 {source="OMIM:300087"} ! X inactivation, familial skewed
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026419
name: obsolete isolated corpus callosum agenesis
def: "OBSOLETE. A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. [Orphanet:200]" [Orphanet:200]
subset: ordo_disorder {source="Orphanet:200"}
xref: GARD:18681 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q04.0 {source="MONDO:mondoIsNarrowerThanSource"}
xref: icd11.foundation:2012425106 {source="MONDO:obsoleteEquivalent", source="Orphanet:200", source="https://orcid.org/0000-0002-4142-7153"}
xref: Orphanet:200 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true
consider: HP:0001274

[Term]
id: MONDO:0026426
name: X inactivation, familial skewed, 2
synonym: "SXI2" RELATED ABBREVIATION [OMIM:300179]
synonym: "X INACTIVATION, FAMILIAL SKEWED, 2" RELATED [OMIM:300179]
synonym: "X-inactivation, familial skewed, 2" EXACT [OMIM:300179]
xref: MEDGEN:335376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564572 {source="MONDO:equivalentTo"}
xref: OMIM:300179 {source="MONDO:equivalentTo"}
xref: UMLS:C1846257 {source="MEDGEN:335376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100209 {source="OMIM:300179"} ! X inactivation, familial skewed

[Term]
id: MONDO:0026720
name: mitochondrial complex 1 deficiency, nuclear type 12
subset: gard_rare {source="GARD:15283", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN12" RELATED ABBREVIATION [OMIM:301020]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12" RELATED [OMIM:301020]
synonym: "mitochondrial complex i deficiency, nuclear type 12, X-linked recessive" EXACT [OMIM:301020, OMIM:genemap2]
xref: DOID:0112099 {source="MONDO:equivalentTo"}
xref: GARD:15283 {source="MONDO:GARD"}
xref: MEDGEN:1648278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301020 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:301020"}
xref: UMLS:C4746984 {source="MEDGEN:1648278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:301020"} ! disease
is_a: MONDO:0100223 {source="OMIM:301020"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7683 ! NDUFA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026721
name: mitochondrial complex 1 deficiency, nuclear type 30
subset: gard_rare {source="GARD:15284", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN30" RELATED ABBREVIATION [OMIM:301021]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30" RELATED [OMIM:301021]
xref: DOID:0112098 {source="MONDO:equivalentTo"}
xref: GARD:15284 {source="MONDO:GARD"}
xref: MEDGEN:1648313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301021 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:301021"}
xref: UMLS:C4746985 {source="MEDGEN:1648313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:301021"} ! disease
is_a: MONDO:0100223 {source="OMIM:301021"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11

[Term]
id: MONDO:0026722
name: Mullegama-Klein-Martinez syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "MKMS" RELATED ABBREVIATION [OMIM:301022]
synonym: "MULLEGAMA-KLEIN-MARTINEZ SYNDROME" RELATED [OMIM:301022]
synonym: "Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities" RELATED [OMIM:301022]
xref: DOID:0111845 {source="MONDO:equivalentTo"}
xref: MEDGEN:1683985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301022 {source="MONDO:equivalentTo"}
xref: UMLS:C5193008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683985"}
is_a: MONDO:0003847 {source="OMIM:301022"} ! hereditary disease

[Term]
id: MONDO:0026723
name: intellectual developmental disorder, X-linked 108
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108" RELATED [OMIM:301024]
synonym: "intellectual developmental disorder, X-linked 108, X-linked recessive" EXACT [OMIM:301024, OMIM:genemap2]
synonym: "Mental Retardation, X-Linked 108" RELATED [OMIM:301024]
synonym: "MRX108" RELATED ABBREVIATION [OMIM:301024]
xref: DOID:0111844 {source="MONDO:equivalentTo"}
xref: MEDGEN:1680544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301024 {source="MONDO:equivalentTo"}
xref: UMLS:C5193009 {source="MEDGEN:1680544", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:301024"} ! disease
is_a: MONDO:0019181 {source="OMIM:301024"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026724
name: Paganini-Miozzo syndrome
synonym: "mental retardation, X-Linked, syndromic, Paganini-Miozzo type" EXACT DEPRECATED [OMIM:301025]
synonym: "MRXSPM" RELATED ABBREVIATION [OMIM:301025]
synonym: "PAGANINI-MIOZZO SYNDROME" RELATED [OMIM:301025]
synonym: "Paganini-Miozzo syndrome, X-linked recessive" EXACT [OMIM:301025, OMIM:genemap2]
xref: DOID:0111843 {source="MONDO:equivalentTo"}
xref: MEDGEN:1683361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301025 {source="MONDO:equivalentTo"}
xref: UMLS:C5193010 {source="MEDGEN:1683361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:301025", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0026726
name: nephrotic syndrome, type 20
subset: gard_rare {source="GARD:15285", source="MONDO:GARD"}
subset: rare
synonym: "NEPHROTIC SYNDROME, TYPE 20" RELATED [OMIM:301028]
synonym: "NPHS20" RELATED ABBREVIATION [OMIM:301028]
xref: DOID:0070357 {source="MONDO:equivalentTo"}
xref: GARD:15285 {source="MONDO:GARD"}
xref: MEDGEN:1678854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301028 {source="MONDO:equivalentTo"}
xref: Orphanet:656 {source="OMIM:301028"}
xref: UMLS:C5193011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678854"}
is_a: MONDO:0000001 {source="OMIM:301028"} ! disease
is_a: MONDO:0002350 {source="OMIM:301028"} ! familial nephrotic syndrome

[Term]
id: MONDO:0026727
name: Shukla-Vernon syndrome
subset: gard_rare {source="GARD:18511", source="MONDO:GARD"}
subset: rare
synonym: "SHUKLA-VERNON SYNDROME" RELATED [OMIM:301029]
synonym: "Shukla-Vernon syndrome, X-linked recessive" EXACT [OMIM:301029, OMIM:genemap2]
synonym: "SHUVER" RELATED ABBREVIATION [OMIM:301029]
xref: DOID:0111841 {source="MONDO:equivalentTo"}
xref: GARD:18511 {source="MONDO:GARD"}
xref: MEDGEN:1674076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301029 {source="MONDO:equivalentTo"}
xref: UMLS:C5193146 {source="MONDO:equivalentTo", source="MEDGEN:1674076", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:301029"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026729
name: congenital disorder of glycosylation, type ICC
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CDG1CC" RELATED ABBREVIATION [OMIM:301031]
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc" RELATED [OMIM:301031]
synonym: "congenital disorder of glycosylation, type Icc, X-linked recessive" EXACT [OMIM:301031, OMIM:genemap2]
xref: DOID:0111839 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301031 {source="MONDO:equivalentTo"}
xref: UMLS:C5231393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684742"}
is_a: MONDO:0000001 {source="OMIM:301031"} ! disease
is_a: MONDO:0005500 {source="OMIM:301031"} ! congenital disorder of glycosylation type I
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026730
name: Basilicata-Akhtar syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Basilicata-Akhtar syndrome" EXACT [OMIM:301032]
synonym: "Basilicata-Akhtar syndrome, X-linked dominant" EXACT [OMIM:301032, OMIM:genemap2]
synonym: "Mental Retardation, X-Linked, Syndromic 36" RELATED [OMIM:301032]
synonym: "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" RELATED [OMIM:301032]
synonym: "MRXSBA" RELATED ABBREVIATION [OMIM:301032]
xref: DOID:0111838 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301032 {source="MONDO:equivalentTo"}
xref: UMLS:C5231394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684820"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:301032", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0026731
name: hypothyroidism, congenital, nongoitrous, 8
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHNG8" RELATED ABBREVIATION [OMIM:301033]
synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8" RELATED [OMIM:301033]
xref: DOID:0111837 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301033 {source="MONDO:equivalentTo"}
xref: UMLS:C5231395 {source="MEDGEN:1684717", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:301033"} ! disease
is_a: MONDO:0000045 {source="OMIM:301033"} ! hypothyroidism, congenital, nongoitrous
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0026732
name: hypothyroidism, congenital, nongoitrous, 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CHNG9" RELATED ABBREVIATION [OMIM:301035]
synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9" RELATED [OMIM:301035]
synonym: "hypothyroidism, congenital, nongoitrous, 9, X-linked recessive" EXACT [OMIM:301035, OMIM:genemap2]
xref: DOID:0111835 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301035 {source="MONDO:equivalentTo"}
xref: UMLS:C5231396 {source="MEDGEN:1684807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:301035"} ! disease
is_a: MONDO:0000045 {source="OMIM:301035"} ! hypothyroidism, congenital, nongoitrous
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026733
name: intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive" EXACT [OMIM:301039, OMIM:genemap2]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE" RELATED [OMIM:301039]
synonym: "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" RELATED [OMIM:301039]
synonym: "MRXSHD" RELATED ABBREVIATION [OMIM:301039]
xref: MEDGEN:1716269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301039 {source="MONDO:equivalentTo"}
xref: UMLS:C5393302 {source="MEDGEN:1716269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:301039"} ! disease
is_a: MONDO:0020119 {source="OMIM:301039", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0026754
name: obsolete histidinuria-renal tubular defect syndrome
is_obsolete: true
replaced_by: MONDO:0009346

[Term]
id: MONDO:0026762
name: Wieacker-Wolff syndrome, female-restricted
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED" RELATED [OMIM:301041]
synonym: "Wieacker-Wolff syndrome, female-restricted, X-linked dominant" EXACT [OMIM:301041, OMIM:genemap2]
synonym: "WRWFFR" RELATED ABBREVIATION [OMIM:301041]
xref: MEDGEN:1715791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301041 {source="MONDO:equivalentTo"}
xref: UMLS:C5393303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715791"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0025445 {source="OMIM:301041"} ! Wieacker-Wolff syndrome (spectrum)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026763
name: holoprosencephaly 13, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HOLOPROSENCEPHALY 13, X-LINKED" RELATED [OMIM:301043]
synonym: "holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant" EXACT [OMIM:301043, OMIM:genemap2]
synonym: "HPE13" RELATED ABBREVIATION [OMIM:301043]
xref: DOID:0060954 {source="MONDO:equivalentTo"}
xref: MEDGEN:1714826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301043 {source="MONDO:equivalentTo"}
xref: Orphanet:220386 {source="OMIM:301043"}
xref: Orphanet:93925 {source="OMIM:301043"}
xref: UMLS:C5393308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714826"}
is_a: MONDO:0016296 {source="OMIM:301043"} ! holoprosencephaly
relationship: has_characteristic HP:0001417 {source="OMIM:301043"} ! X-linked inheritance
relationship: has_characteristic HP:0001419 {source="OMIM:301043"} ! X-linked recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026765
name: congenital disorder of glycosylation, type IIr
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CDG IIr" RELATED [OMIM:301045]
synonym: "CDG2R" RELATED ABBREVIATION [OMIM:301045]
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr" RELATED [OMIM:301045]
synonym: "congenital disorder of glycosylation, type IIr, X-linked recessive" EXACT [OMIM:301045, OMIM:genemap2]
xref: MEDGEN:1717186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301045 {source="MONDO:equivalentTo"}
xref: UMLS:C5393313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717186"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005501 {source="OMIM:301045"} ! congenital disorder of glycosylation type II
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026767
name: immunodeficiency 74, COVID-19-related, X-linked
subset: otar {source="MONDO:OTAR"}
synonym: "IMD74" RELATED ABBREVIATION [OMIM:301051]
synonym: "IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED" RELATED [OMIM:301051]
synonym: "immunodeficiency 74, COVID19-related, X-linked, X-linked recessive" EXACT [OMIM:301051, OMIM:genemap2]
synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" RELATED [OMIM:301051]
synonym: "TLR7 deficiency" RELATED [OMIM:301051]
xref: DOID:0112063 {source="MONDO:equivalentTo"}
xref: MEDGEN:1768360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301051 {source="MONDO:equivalentTo"}
xref: UMLS:C5435745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1768360"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:301051"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026768
name: obsolete warfarin sensitivity, X-linked
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "Coumarin Sensitivity, X-Linked" RELATED [OMIM:301052]
synonym: "Warfarin sensitivity" EXACT [OMIM:301052, OMIM:genemap2]
synonym: "WARFARIN SENSITIVITY, X-LINKED" RELATED [OMIM:301052]
xref: DOID:0080839 {source="MONDO:obsoleteEquivalent"}
xref: OMIM:301052 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026771
name: developmental and epileptic encephalopathy, 85, with or without midline brain defects
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE85, with or without midline brain defects" EXACT [OMIM:301044]
synonym: "developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant" EXACT [OMIM:301044, OMIM:genemap2]
synonym: "EIEE85" EXACT ABBREVIATION [OMIM:301044]
synonym: "epileptic encephalopathy, early infantile, 85, with or without midline brain defects" EXACT [OMIM:301044]
xref: DOID:0070380 {source="MONDO:equivalentTo"}
xref: MEDGEN:1708832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301044 {source="MONDO:equivalentTo"}
xref: UMLS:C5393312 {source="MEDGEN:1708832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:301044"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11111 ! SMC1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026777
name: VEXAS syndrome
def: "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death." [OMIM:301054]
subset: gard_rare {source="GARD:15001", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:596753"}
subset: orphanet_rare {source="Orphanet:596753"}
subset: rare
synonym: "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome" EXACT [OMIM:301054]
synonym: "VEXAS" EXACT ABBREVIATION [OMIM:301054]
synonym: "VEXAS syndrome, somatic" EXACT [OMIM:301054, OMIM:genemap2]
xref: DOID:0080828 {source="MONDO:equivalentTo"}
xref: GARD:15001 {source="MONDO:GARD"}
xref: MEDGEN:1765785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C181924 {source="MONDO:equivalentTo"}
xref: OMIM:301054 {source="MONDO:equivalentTo"}
xref: Orphanet:596753 {source="MONDO:equivalentTo"}
xref: UMLS:C5435753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1765785"}
is_a: MONDO:0003847 {source="OMIM:301054"} ! hereditary disease
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0026782
name: obsolete chondrodysplasia punctata 2, X-linked dominant
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3906" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020603

[Term]
id: MONDO:0026856
name: obsolete homosexuality 1
synonym: "HMS1" RELATED ABBREVIATION [OMIM:306995]
synonym: "HOMOSEXUALITY 1" RELATED [OMIM:306995]
synonym: "homosexuality, male" EXACT [OMIM:306995, OMIM:genemap2]
synonym: "Sexual Orientation, Male" RELATED [OMIM:306995]
xref: OMIM:306995 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0026989
name: obsolete syndrome associated with hypertrophic cardiomyopathy
subset: ordo_group_of_disorders {source="Orphanet:217595"}
xref: GARD:20523 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:217595 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0027026
name: Buschke Lowenstein tumor
def: "A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157782/]
subset: gard_rare {source="GARD:9663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anogenital type verrucous carcinoma" RELATED [MESH:D062688]
synonym: "Buschke Lowenstein tumor" EXACT [MESH:D062688]
synonym: "Buschke-Lowenstein tumor" RELATED [MESH:D062688]
synonym: "Buschke-Lowenstein tumour" RELATED OMO:0003005 []
synonym: "condyloma Acuminatum, Giant" RELATED [MESH:D062688]
synonym: "condyloma Acuminatums, Giant" RELATED [MESH:D062688]
synonym: "GCBL" RELATED ABBREVIATION [GARD:0009663]
synonym: "Giant condyloma Acuminatum" RELATED [MESH:D062688]
synonym: "giant condyloma acuminatum involving the prepuce and glans penis" NARROW [GARD:0009663]
synonym: "Giant condyloma Acuminatums" RELATED [MESH:D062688]
synonym: "Giant condyloma of Buschke and Lowenstein" RELATED [MESH:D062688]
synonym: "giant condyloma of Buschke and Lowenstein" NARROW [GARD:0009663]
synonym: "Lowenstein tumor, Buschke" RELATED [MESH:D062688]
synonym: "tumor, Buschke Lowenstein" RELATED [MESH:D062688]
synonym: "tumor, Buschke-Lowenstein" RELATED [MESH:D062688]
xref: GARD:9663 {source="MONDO:GARD"}
xref: MEDGEN:473018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D062688 {source="MONDO:equivalentTo", source="UMLS:C0276264"}
xref: NCIT:C6371 {source="MONDO:equivalentTo", source="UMLS:C0276264"}
xref: SCTID:402910001 {source="MONDO:equivalentTo"}
xref: UMLS:C0276264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473018"}
is_a: MONDO:0005647 {source="MESH:D062688"} ! anogenital human papillomavirus infection
is_a: MONDO:0006006 {source="MESH:D062688"} ! verrucous carcinoma

[Term]
id: MONDO:0027029
name: HHV-6 encephalitis
def: "HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors." [GARD:0009667]
subset: gard_rare {source="GARD:9667", source="MONDO:GARD"}
subset: rare
synonym: "Human Herpesvirus 6 encephalitis" RELATED [GARD:0009667]
synonym: "Variant A or HHV-6A" RELATED [GARD:0009667]
synonym: "Variant B or HHV-6B" RELATED [GARD:0009667]
xref: GARD:9667 {source="MONDO:GARD"}
xref: MEDGEN:363034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1955629 {source="MONDO:equivalentTo", source="MEDGEN:363034", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0019956 ! encephalitis
intersection_of: MONDO:0100332 NCBITaxon:10368 ! disease has primary infectious agent Human betaherpesvirus 6

[Term]
id: MONDO:0027048
name: deafness, Y-linked 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, y-linked 2, y-linked" NARROW [OMIM:400047, OMIM:genemap2]
synonym: "DFNY2" EXACT ABBREVIATION [OMIM:400047]
xref: DOID:0111758 {source="MONDO:equivalentTo"}
xref: MEDGEN:1677048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:400047 {source="MONDO:equivalentTo"}
xref: UMLS:C5193013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677048"}
is_a: MONDO:0000001 {source="OMIM:400047"} ! disease
is_a: MONDO:0033304 ! nonsyndromic deafness, Y-linked
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0027068
name: mitochondrial complex 1 deficiency, mitochondrial type 1
def: "Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MC1DM1" EXACT ABBREVIATION [OMIM:500014]
synonym: "mitochondrial complex I deficiency, mitochondrial type 1" EXACT [OMIM:500014]
xref: DOID:0112101 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:500014 {source="MONDO:equivalentTo"}
xref: UMLS:C4746992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648371"}
is_a: MONDO:0100134 {source="https://github.com/monarch-initiative/mondo/issues/1042", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex I deficiency, mitochondrial type
intersection_of: MONDO:0100134 ! mitochondrial complex I deficiency, mitochondrial type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7458 ! MT-ND3
relationship: excluded_subClassOf MONDO:0000001 {source="OMIM:500014", source="https://orcid.org/0000-0001-5208-3432"} ! disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7458 ! MT-ND3

[Term]
id: MONDO:0027069
name: mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MC5DM1" EXACT ABBREVIATION [OMIM:500015]
synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1" EXACT [OMIM:500015]
xref: DOID:0111748 {source="MONDO:equivalentTo"}
xref: MEDGEN:477315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:500015 {source="MONDO:equivalentTo"}
xref: UMLS:C3275684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477315"}
is_a: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency

[Term]
id: MONDO:0027091
name: xanthogranulomatous sialadenitis
synonym: "sialadenitis, xanthogranulomatous" EXACT [GARD:0009739]
synonym: "xanthogranulomatous salivary gland disease" RELATED []
xref: MEDGEN:444028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536763 {source="MONDO:equivalentTo"}
xref: UMLS:C2931315 {source="MEDGEN:444028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006969 {source="https://orcid.org/0000-0001-5208-3432"} ! sialadenitis

[Term]
id: MONDO:0027353
name: autosomal recessive dyskeratosis congenita 4
def: "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33." [DOID:0070021]
comment: OMIM includes this term with with DKCA2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DKCB4" EXACT ABBREVIATION [DOID:0070021, OMIM:613989]
synonym: "dyskeratosis congenita, autosomal recessive 4" EXACT [OMIM:613989]
xref: DOID:0070021 {source="MONDO:equivalentTo"}
xref: MEDGEN:462794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613989 {source="DOID:0070021", source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3151444 {source="MEDGEN:462794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015780 {source="DOID:0070021"} ! dyskeratosis congenita
relationship: disease_shares_features_of MONDO:0013521 ! dyskeratosis congenita, autosomal dominant 2

[Term]
id: MONDO:0027407
name: Kleefstra syndrome 1
def: "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3." [DOID:0070075]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "9q subtelomeric deletion syndrome" BROAD EXCLUDE [DOID:0070075]
synonym: "9q-syndrome" BROAD [DOID:0070075]
synonym: "chromosome 9q34.3 deletion syndrome" BROAD [DOID:0070075]
synonym: "Kleefstra syndrome" BROAD [DOID:0070075]
synonym: "Kleefstra syndrome 1" EXACT CLINGEN_LABEL [OMIM:610253]
synonym: "KLEFS1" BROAD ABBREVIATION [OMIM:610253]
synonym: "obsolete Kleefstra syndrome" RELATED EXCLUDE [DOID:0070075]
xref: DOID:0060352 {source="MONDO:equivalentTo"}
xref: DOID:0070075 {source="MONDO:equivalentObsolete"}
xref: MEDGEN:208639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563043 {source="DOID:0060352", source="MONDO:equivalentTo"}
xref: NCIT:C129976 {source="MONDO:equivalentTo"}
xref: OMIM:610253 {source="DOID:0070075", source="MONDO:equivalentTo"}
xref: SCTID:724207001 {source="MONDO:equivalentTo"}
xref: UMLS:C0795833 {source="MEDGEN:208639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012455 {source="OMIM:610253"} ! Kleefstra syndrome
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070075", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24650 {source="MONDO:mim2gene_medgen"} ! EHMT1

[Term]
id: MONDO:0027416
name: obsolete retinal cone dystrophy 2
synonym: "Cone dystrophy progressive" RELATED [GARD:0010117]
synonym: "Progressive cone degeneration" RELATED [GARD:0010117]
synonym: "RCD2" RELATED ABBREVIATION [GARD:0010117]
xref: OMIM:601251 {source="GARD:0010117", source="MONDO:obsoleteEquivalentObsolete"}
is_obsolete: true
replaced_by: MONDO:0011143

[Term]
id: MONDO:0027451
name: autosomal recessive cutis laxa type 2D
def: "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13." [DOID:0070129]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCL2D" EXACT ABBREVIATION [DOID:0070129, OMIM:617403]
synonym: "autosomal recessive cutis laxa type IID" RELATED [DOID:0070129]
synonym: "cutis laxa, autosomal recessive, type 2D" RELATED [OMIM:617403]
synonym: "cutis laxa, autosomal recessive, type IID" RELATED [OMIM:617403]
xref: DOID:0070129 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q82.8 {source="DOID:0070129"}
xref: MEDGEN:1376619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617403 {source="MONDO:equivalentTo", source="DOID:0070129"}
xref: Orphanet:357074 {source="OMIM:617403"}
xref: UMLS:C4479409 {source="MONDO:equivalentTo", source="MEDGEN:1376619", source="MONDO:MEDGEN"}
is_a: MONDO:0019573 {source="DOID:0070129/inferred", source="OMIM:617403"} ! autosomal recessive cutis laxa type 2
relationship: excluded_subClassOf MONDO:0009054 {source="DOID:0070129", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive cutis laxa type 2, classic type

[Term]
id: MONDO:0027462
name: autosomal recessive cutis laxa type 2C
def: "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11." [DOID:0070140]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCL2C" RELATED ABBREVIATION [OMIM:617402]
synonym: "autosomal recessive cutis laxa type IIC" RELATED [DOID:0070140]
synonym: "cutis laxa, autosomal recessive, type 2C" RELATED [OMIM:617402]
synonym: "cutis laxa, autosomal recessive, type IIC" RELATED [OMIM:617402]
xref: DOID:0070140 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q82.8 {source="DOID:0070140"}
xref: MEDGEN:1385755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617402 {source="MONDO:equivalentTo", source="DOID:0070140"}
xref: Orphanet:357074 {source="OMIM:617402"}
xref: UMLS:C4479387 {source="MEDGEN:1385755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019573 {source="DOID:0070140/inferred", source="OMIM:617402"} ! autosomal recessive cutis laxa type 2
relationship: excluded_subClassOf MONDO:0009054 {source="DOID:0070140", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive cutis laxa type 2, classic type

[Term]
id: MONDO:0027652
name: 5-fluorouracil toxicity
comment: This Orphent class is meant to represent specific biomarkers that predispose an individual to 5-flourouracil toxicity.
xref: OMIM:274270 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:240839 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning
is_a: MONDO:0800390 {source="https://orcid.org/0000-0001-5208-3432"} ! chemotherapy-induced toxicity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5652" xsd:anyURI

[Term]
id: MONDO:0027653
name: abacavir toxicity
xref: Orphanet:240841 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0027655
name: allopurinol toxicity
xref: Orphanet:240845 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0027664
name: cisplatin toxicity
xref: Orphanet:240863 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning
is_a: MONDO:0800390 {source="https://orcid.org/0000-0001-5208-3432"} ! chemotherapy-induced toxicity

[Term]
id: MONDO:0027666
name: codeine toxicity
xref: MEDGEN:545839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:240867 {source="MONDO:equivalentTo"}
xref: UMLS:C0274612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:545839"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0027667
name: efavirenz toxicity
xref: Orphanet:240869 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0027668
name: flucloxacilline toxicity
xref: Orphanet:240871 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0027675
name: irinotecan toxicity
xref: Orphanet:240885 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning
is_a: MONDO:0800390 {source="https://orcid.org/0000-0001-5208-3432"} ! chemotherapy-induced toxicity

[Term]
id: MONDO:0027676
name: congenital anomalies of kidney and urinary tract 2
def: "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAKUT2" RELATED ABBREVIATION [DOID:0080207, OMIM:143400]
synonym: "congenital anomalies of kidney and urinary tract 2" EXACT [OMIM:143400]
synonym: "congenital anomalies of kidney and urinary tract type 2" EXACT [MONDORULE:1, OMIM:143400]
synonym: "congenital anomaly of kidney and urinary tract caused by mutation in TBX18" EXACT [MONDO:design_pattern]
synonym: "hydronephrosis due to Pujo" RELATED [OMIM:143400]
synonym: "multicystic renal dysplasia, bilateral" RELATED [OMIM:143400]
synonym: "pelviureteric junction obstruction" RELATED [OMIM:143400]
synonym: "TBX18 congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ureteropelvic junction obstruction" RELATED [OMIM:143400]
xref: DOID:0080207 {source="MONDO:equivalentTo"}
xref: MEDGEN:1804316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:143400 {source="MONDO:equivalentTo", source="DOID:0080207"}
xref: Orphanet:2190 {source="MONDO:relatedTo", source="OMIM:143400"}
xref: UMLS:C5574705 {source="MONDO:equivalentTo", source="MEDGEN:1804316", source="MONDO:MEDGEN"}
is_a: MONDO:0019719 {source="DOID:0080207", source="MONDO:Redundant", source="OMIM:143400"} ! congenital anomaly of kidney and urinary tract
intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11595 ! TBX18
relationship: disease_has_feature HP:0000074 ! Ureteropelvic junction obstruction
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11595 {source="MONDO:mim2gene_medgen"} ! TBX18

[Term]
id: MONDO:0027677
name: isoniazid toxicity
xref: MEDGEN:545728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:240887 {source="MONDO:equivalentTo"}
xref: UMLS:C0274487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:545728"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0027687
name: raltegravir toxicity
xref: Orphanet:240905 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0027694
name: amyotrophic lateral sclerosis type 23
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16262", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS23" EXACT ABBREVIATION [OMIM:617839]
synonym: "amyotrophic lateral sclerosis 23" RELATED [OMIM:617839]
xref: DOID:0080225 {source="MONDO:equivalentTo"}
xref: GARD:16262 {source="MONDO:GARD"}
xref: MEDGEN:1645924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617839 {source="MONDO:equivalentTo", source="DOID:0080225"}
xref: UMLS:C4693381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645924"}
is_a: MONDO:0005144 {source="DOID:0080225", source="OMIM:617839"} ! familial amyotrophic lateral sclerosis

[Term]
id: MONDO:0027696
name: voriconazole toxicity
xref: Orphanet:240921 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0027749
name: serpinopathy
subset: disease_grouping
subset: gard_rare {source="GARD:20683", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:250805"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:20683 {source="MONDO:GARD"}
xref: MEDGEN:1842372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:250805 {source="MONDO:equivalentTo"}
xref: UMLS:C5680704 {source="MEDGEN:1842372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="Orphanet:250805", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease
intersection_of: MONDO:0003847 ! hereditary disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1228 ! SERPING1

[Term]
id: MONDO:0027750
name: obsolete serpinopathy with toxic serpin polymerization
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: serpinopathy
subset: ordo_group_of_disorders {source="Orphanet:250808"}
xref: GARD:20684 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:250808 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0027749

[Term]
id: MONDO:0027751
name: obsolete serpinopathy with loss of serpin function
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: serpinopathy
subset: ordo_group_of_disorders {source="Orphanet:250811"}
xref: GARD:20685 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:250811 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0027749

[Term]
id: MONDO:0027766
name: generalized lipodystrophy
def: "Almost complete absence of subcutaneous and/or visceral adipose tissue." [NCIT:C131815]
subset: otar {source="MONDO:OTAR"}
synonym: "complete generalised lipodystrophy" EXACT OMO:0003005 []
synonym: "complete generalized lipodystrophy" EXACT [DOID:0080298, Wikipedia:Acquired_generalized_lipodystrophy]
xref: DOID:0080298 {source="MONDO:equivalentTo"}
xref: HP:0009064 {source="MONDO:otherHierarchy"}
xref: MEDGEN:1369615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131815 {source="MONDO:equivalentTo"}
xref: UMLS:C4317112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1369615"}
is_a: MONDO:0006573 {source="DOID:0080298", source="MONDO:Redundant", source="NCIT:C131815"} ! lipodystrophy
intersection_of: MONDO:0006573 ! lipodystrophy
intersection_of: disease_has_major_feature HP:0009064 ! Generalized lipodystrophy
disjoint_from: MONDO:0027767 ! partial lipodystrophy

[Term]
id: MONDO:0027767
name: partial lipodystrophy
def: "Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body." [NCIT:C131296]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0080299 {source="MONDO:equivalentTo"}
xref: MEDGEN:1386287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131296 {source="MONDO:equivalentTo"}
xref: UMLS:C4316789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386287"}
is_a: MONDO:0006573 {source="DOID:0080299", source="NCIT:C131296"} ! lipodystrophy

[Term]
id: MONDO:0027772
name: lung colloid adenocarcinoma
def: "A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells." [NCIT:C45512]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lung colloid adenocarcinoma" EXACT [NCIT:C45512]
synonym: "lung mucinous cystadenocarcinoma" EXACT [NCIT:C45512]
synonym: "lung mucinous cystic tumor of borderline malignancy" EXACT [NCIT:C45512]
synonym: "lung mucinous cystic tumour of borderline malignancy" EXACT OMO:0003005 []
synonym: "mucinous lung adenocarcinoma" RELATED [DOID:0080303]
xref: DOID:0080303 {source="MONDO:equivalentTo"}
xref: DOID:0080304 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MEDGEN:313370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45512 {source="MONDO:equivalentTo"}
xref: UMLS:C1708776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313370"}
is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C45512"} ! mucinous adenocarcinoma
is_a: MONDO:0005061 {source="DOID:0080303", source="DOID:0080304", source="MONDO:Redundant", source="NCIT:C45512"} ! lung adenocarcinoma
intersection_of: MONDO:0004957 ! mucinous adenocarcinoma
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0027929
name: obsolete genetic polycythemia
subset: ordo_group_of_disorders {source="Orphanet:250165"}
xref: GARD:20682 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:250165 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0028226
name: autosomal recessive severe congenital neutropenia
subset: disease_grouping
subset: gard_rare {source="GARD:21834", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:439849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21834 {source="MONDO:GARD"}
xref: MEDGEN:1781858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176624 {source="MONDO:equivalentTo"}
xref: Orphanet:439849 {source="MONDO:equivalentTo"}
xref: UMLS:C5447331 {source="MEDGEN:1781858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018542 {source="Orphanet:439849"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0028569
name: obsolete genetic interstitial lung disease
subset: ordo_group_of_disorders {source="Orphanet:264992"}
xref: GARD:20944 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:264992 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0028618
name: obsolete gastroenteric neuroendocrine neoplasm
subset: ordo_group_of_disorders {source="Orphanet:481508"}
xref: GARD:21985 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:481508 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0028737
name: obsolete biliary atresia disorder
subset: ordo_group_of_disorders {source="Orphanet:498345"}
xref: GARD:22018 {source="MONDO:obsoleteEquivalent"}
xref: HP:0005912
xref: NANDO:1200913 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200930 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:498345 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2717" xsd:anyURI
is_obsolete: true
consider: MONDO:0008867

[Term]
id: MONDO:0028741
name: obsolete overgrowth or tall stature syndrome with skeletal involvement
subset: disease_grouping
is_obsolete: true
replaced_by: MONDO:0800091

[Term]
id: MONDO:0028742
name: obsolete dysostosis with brachydactyly without extraskeletal manifestations
subset: disease_grouping
is_obsolete: true
replaced_by: MONDO:0800093

[Term]
id: MONDO:0028743
name: obsolete dysostosis with brachydactyly with extraskeletal manifestations
subset: disease_grouping
is_obsolete: true
replaced_by: MONDO:0800094

[Term]
id: MONDO:0028795
name: obsolete rare genetic systemic or rheumatologic disease
subset: ordo_group_of_disorders {source="Orphanet:271870"}
xref: GARD:21018 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:271870 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0028868
name: obsolete genetic frontotemporal degeneration with dementia
subset: ordo_group_of_disorders {source="Orphanet:276061"}
xref: GARD:21040 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:276061 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0029000
name: poisoning
def: "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." [MESH:D011041]
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "intoxication" RELATED []
synonym: "poisoning syndrome" RELATED []
synonym: "Poisonings" RELATED [MESH:D011041]
xref: EFO:0008546 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:S00-T88 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:T36-T50 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:T51-T65 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D011041 {source="MONDO:equivalentTo"}
xref: SCTID:75478009 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="https://orcid.org/0000-0002-4142-7153"} ! disease
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease

[Term]
id: MONDO:0029001
name: obsolete chemically-induced disorder
def: "OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." [MESH:D064419]
synonym: "chemically induced disorders" RELATED [MESH:D064419]
synonym: "chemically-induced disorder" EXACT [MESH:D064419]
synonym: "disorder, chemically-induced" RELATED [MESH:D064419]
synonym: "disorders, chemically-induced" RELATED [MESH:D064419]
xref: MESH:D064419 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3414" xsd:anyURI
is_obsolete: true
consider: MONDO:0029000

[Term]
id: MONDO:0029014
name: obsolete rare systemic or rheumatological disease of childhood
subset: ordo_group_of_disorders {source="Orphanet:280342"}
xref: GARD:21079 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:280342 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPopulation"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0005554

[Term]
id: MONDO:0029042
name: obsolete ureteropelvic junction obstruction
xref: DOID:0111145 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
replaced_by: HP:0000074

[Term]
id: MONDO:0029051
name: obsolete autosomal recessive nail dysplasia
def: "OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654]" [Orphanet:280654]
subset: ordo_disorder {source="Orphanet:280654"}
xref: GARD:18650 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q84.6 {source="MONDO:mondoIsNarrowerThanSource"}
xref: OMIM:614157 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:280654 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true
consider: HP:0002164

[Term]
id: MONDO:0029102
name: obsolete autosomal ichthyosis syndrome with other associated signs
subset: ordo_group_of_disorders {source="Orphanet:281244"}
xref: GARD:21114 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:281244 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0017270

[Term]
id: MONDO:0029130
name: polydactyly, postaxial, type A8
subset: gard_rare {source="GARD:16293", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PAPA8" RELATED ABBREVIATION [OMIM:618123]
synonym: "polydactyly, postaxial, type A8" EXACT [OMIM:618123]
xref: GARD:16293 {source="MONDO:GARD"}
xref: MEDGEN:1648405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618123 {source="MONDO:equivalentTo"}
xref: UMLS:C4748277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648405"}
is_a: MONDO:0019673 ! postaxial polydactyly type A

[Term]
id: MONDO:0029131
name: peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" EXACT [OMIM:618124]
synonym: "PNRIID" RELATED ABBREVIATION [OMIM:618124]
xref: MEDGEN:1648480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618124 {source="MONDO:equivalentTo"}
xref: UMLS:C4748283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648480"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0029132
name: Liddle syndrome 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Liddle syndrome 3" EXACT [OMIM:618126]
synonym: "LIDLS3" RELATED ABBREVIATION [OMIM:618126]
xref: MEDGEN:1648443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618126 {source="MONDO:equivalentTo"}
xref: UMLS:C4748292 {source="MEDGEN:1648443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008323 {source="OMIM:618126"} ! Liddle syndrome

[Term]
id: MONDO:0029133
name: muscular dystrophy, limb-girdle, autosomal dominant 4
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LGMDD4" RELATED ABBREVIATION [OMIM:618129]
synonym: "muscular dystrophy, limb-girdle, autosomal dominant 4" EXACT [OMIM:618129]
synonym: "muscular dystrophy, limb-girdle, type 1I" RELATED [OMIM:618129]
xref: MEDGEN:1648316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618129 {source="MONDO:equivalentTo"}
xref: UMLS:C4748295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648316"}
is_a: MONDO:0015151 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy, limb-girdle, autosomal dominant
intersection_of: MONDO:0015151 ! muscular dystrophy, limb-girdle, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1480 ! CAPN3

[Term]
id: MONDO:0029134
name: severe combined immunodeficiency due to CARMIL2 deficiency
subset: gard_rare {source="GARD:17981", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:542301"}
subset: orphanet_rare {source="Orphanet:542301"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD58" RELATED ABBREVIATION [OMIM:618131]
synonym: "immunodeficiency 58" EXACT [OMIM:618131]
xref: DOID:0111984 {source="MONDO:equivalentTo"}
xref: GARD:17981 {source="MONDO:GARD"}
xref: MEDGEN:1648422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618131 {source="Orphanet:542301", source="MONDO:equivalentTo"}
xref: Orphanet:542301 {source="MONDO:equivalentTo"}
xref: UMLS:C4748304 {source="MEDGEN:1648422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:618131"} ! immunodeficiency disease
intersection_of: MONDO:0015974 ! severe combined immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27089 ! CARMIL2
relationship: excluded_subClassOf MONDO:0000001 {source="Orphanet:542301", source="https://orcid.org/0000-0001-5208-3432"} ! disease
relationship: excluded_subClassOf MONDO:0016537 {source="Orphanet:542301", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome
relationship: has_characteristic HP:0000007 {source="Orphanet:542301"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27089 {source="Orphanet:542301"} ! CARMIL2

[Term]
id: MONDO:0029135
name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
subset: gard_rare {source="GARD:16294", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LGMD-POMGNT2 related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "MDDGC8" RELATED ABBREVIATION [OMIM:618135]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 24" RELATED [OMIM:618135]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8" EXACT [OMIM:618135, OMIM:genemap2]
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8" RELATED [OMIM:618135]
synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" RELATED [OMIM:618135]
xref: DOID:0112382 {source="MONDO:equivalentTo"}
xref: GARD:16294 {source="MONDO:GARD"}
xref: MEDGEN:1648468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618135 {source="MONDO:equivalentTo"}
xref: UMLS:C4748320 {source="MONDO:equivalentTo", source="MEDGEN:1648468", source="MONDO:MEDGEN"}
is_a: MONDO:0000173 {source="OMIM:618135"} ! muscular dystrophy-dystroglycanopathy, type C
is_a: MONDO:0015152 {source="OMIM:618135"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0700069 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0029136
name: muscular dystrophy, limb-girdle, autosomal recessive 23
subset: gard_rare {source="GARD:22270", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:565837"}
subset: orphanet_rare {source="Orphanet:565837"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" EXACT [Orphanet:565837]
synonym: "LGMDR23" RELATED ABBREVIATION [OMIM:618138]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 23" EXACT [OMIM:618138]
xref: GARD:22270 {source="MONDO:GARD"}
xref: MEDGEN:1648462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618138 {source="MONDO:equivalentTo"}
xref: Orphanet:565837 {source="MONDO:equivalentTo"}
xref: UMLS:C4748327 {source="MEDGEN:1648462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="OMIM:618138"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0100228 {source="PMID:30055037", source="https://clinicalgenome.org/affiliation/40031/"} ! LAMA2-related muscular dystrophy
intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 ! LAMA2
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 {source="OMIM:618138"} ! LAMA2

[Term]
id: MONDO:0029137
name: hearing loss, autosomal dominant 74
subset: gard_rare {source="GARD:18151", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, autosomal dominant 74" NARROW [OMIM:618140, OMIM:genemap2]
synonym: "DFNA74" NARROW ABBREVIATION [OMIM:618140]
xref: DOID:0112165 {source="MONDO:equivalentTo"}
xref: GARD:18151 {source="MONDO:GARD"}
xref: MEDGEN:1648467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618140 {source="MONDO:equivalentTo"}
xref: UMLS:C4748334 {source="MEDGEN:1648467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="OMIM:618140"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0029138
name: developmental and epileptic encephalopathy, 67
subset: gard_rare {source="GARD:16295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE67" EXACT ABBREVIATION [OMIM:618141]
synonym: "developmental and epileptic encephalopathy 67" EXACT [OMIM:618141, OMIM:genemap2]
synonym: "EIEE67" EXACT ABBREVIATION [OMIM:618141]
synonym: "epileptic encephalopathy, early infantile, 67" EXACT [OMIM:618141]
xref: DOID:0112203 {source="MONDO:equivalentTo"}
xref: GARD:16295 {source="MONDO:GARD"}
xref: MEDGEN:1648285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618141 {source="MONDO:equivalentTo"}
xref: UMLS:C4748341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648285"}
is_a: MONDO:0100062 {source="OMIM:618141"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0029140
name: glycosylphosphatidylinositol biosynthesis defect 18
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "developmental and epileptic encephalopathy 95" EXACT [OMIM:618143, OMIM:genemap2]
synonym: "glycosylphosphatidylinositol biosynthesis defect 18" EXACT [OMIM:618143]
synonym: "GPIBD18" RELATED ABBREVIATION [OMIM:618143]
xref: DOID:0070382 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618143 {source="MONDO:equivalentTo"}
xref: UMLS:C4748357 {source="MEDGEN:1648478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0029141
name: Usher syndrome, type 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH4" RELATED ABBREVIATION [OMIM:618144]
synonym: "Usher syndrome, type IV" EXACT [OMIM:618144]
xref: MEDGEN:1648315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618144 {source="MONDO:equivalentTo"}
xref: UMLS:C4748364 {source="MEDGEN:1648315", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019501 {source="OMIM:618144"} ! Usher syndrome

[Term]
id: MONDO:0029142
name: hearing loss, autosomal recessive 111
subset: gard_rare {source="GARD:22659", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 111" NARROW [OMIM:618145, OMIM:genemap2]
synonym: "DFNB111" NARROW ABBREVIATION [OMIM:618145]
xref: DOID:0111640 {source="MONDO:equivalentTo"}
xref: GARD:22659 {source="MONDO:GARD"}
xref: MEDGEN:1648423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618145 {source="MONDO:equivalentTo"}
xref: UMLS:C4748374 {source="MEDGEN:1648423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="OMIM:618145"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0029143
name: intellectual developmental disorder with hypertelorism and distinctive facies
subset: otar {source="MONDO:OTAR"}
synonym: "chromosome 14q32 deletion syndrome" RELATED [OMIM:618147]
synonym: "IDDHDF" RELATED ABBREVIATION [OMIM:618147]
synonym: "INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES" RELATED [OMIM:618147]
xref: MEDGEN:1648403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618147 {source="MONDO:equivalentTo"}
xref: UMLS:C4748381 {source="MEDGEN:1648403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0029144
name: extraoral halitosis due to methanethiol oxidase deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "EHMTO" RELATED ABBREVIATION [OMIM:618148]
synonym: "EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY" RELATED [OMIM:618148]
synonym: "extraoral halitosis due to MTO deficiency" EXACT [OMIM:618148, OMIM:genemap2]
synonym: "extraoral halitosis with dimethylsulfoxiduria" RELATED [OMIM:618148]
synonym: "METHANETHIOL Oxidase Deficiency" RELATED [OMIM:618148]
synonym: "MTO Deficiency" RELATED [OMIM:618148]
xref: MEDGEN:1648340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618148 {source="MONDO:equivalentTo"}
xref: UMLS:C4748387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648340"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_basis_in_disruption_of GO:0018549 ! methanethiol oxidase activity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0029145
name: orofacial cleft 8
subset: gard_rare {source="GARD:18308", source="MONDO:GARD"}
subset: rare
synonym: "Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8" RELATED [OMIM:618149]
synonym: "OFC8" RELATED ABBREVIATION [OMIM:618149]
synonym: "OROFACIAL CLEFT 8" RELATED [OMIM:618149]
xref: DOID:0080401 {source="MONDO:equivalentTo"}
xref: GARD:18308 {source="MONDO:GARD"}
xref: MEDGEN:377541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618149 {source="MONDO:equivalentTo"}
xref: UMLS:C1851878 {source="MEDGEN:377541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000358 {source="https://orcid.org/0000-0001-5208-3432"} ! orofacial cleft

[Term]
id: MONDO:0029146
name: obsolete Saul-Wilson syndrome
is_obsolete: true
replaced_by: MONDO:0019407

[Term]
id: MONDO:0029147
name: spermatogenic failure 33
subset: gard_rare {source="GARD:18406", source="MONDO:GARD"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 33" RELATED [OMIM:618152]
synonym: "SPGF33" RELATED ABBREVIATION [OMIM:618152]
xref: DOID:0111915 {source="MONDO:equivalentTo"}
xref: GARD:18406 {source="MONDO:GARD"}
xref: MEDGEN:1648473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618152 {source="MONDO:equivalentTo"}
xref: UMLS:C4748395 {source="MEDGEN:1648473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure

[Term]
id: MONDO:0029148
name: spermatogenic failure 34
subset: gard_rare {source="GARD:18407", source="MONDO:GARD"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 34" RELATED [OMIM:618153]
synonym: "SPGF34" RELATED ABBREVIATION [OMIM:618153]
xref: DOID:0111911 {source="MONDO:equivalentTo"}
xref: GARD:18407 {source="MONDO:GARD"}
xref: MEDGEN:1648297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618153 {source="MONDO:equivalentTo"}
xref: UMLS:C4748403 {source="MEDGEN:1648297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure

[Term]
id: MONDO:0029465
name: intellectual developmental disorder, autosomal dominant 69
synonym: "intellectual developmental disorder, autosomal dominant 69" EXACT [OMIM:617863]
synonym: "mental retardation, autosomal dominant 69" EXACT DEPRECATED [OMIM:617863]
synonym: "MRD69" EXACT ABBREVIATION [OMIM:617863]
xref: MEDGEN:1808299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617863 {source="MONDO:equivalentTo"}
xref: UMLS:C5676896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808299"}
is_a: MONDO:0100172 {source="OMIM:617863"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0029810
name: obsolete laminopathy with striated muscle involvement
subset: ordo_group_of_disorders {source="Orphanet:300755"}
xref: GARD:21240 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:300755 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0021106

[Term]
id: MONDO:0029811
name: obsolete laminopathy with peripheral neuropathy
subset: ordo_group_of_disorders {source="Orphanet:300758"}
xref: GARD:21241 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:300758 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0021106

[Term]
id: MONDO:0029812
name: obsolete laminopathy with lipodystrophy
subset: ordo_group_of_disorders {source="Orphanet:300763"}
xref: GARD:21242 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:300763 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0021106

[Term]
id: MONDO:0029813
name: obsolete laminopathy with premature aging
subset: ordo_group_of_disorders {source="Orphanet:300766"}
xref: GARD:21243 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:300766 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0021106

[Term]
id: MONDO:0030004
name: autism, susceptibility to, 20
synonym: "AUTISM, SUSCEPTIBILITY TO, 20" EXACT [OMIM:618830]
synonym: "autism, susceptibility to, 20" EXACT [OMIM:618830]
synonym: "AUTS20" EXACT ABBREVIATION [OMIM:618830]
xref: MEDGEN:1717195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618830 {source="MONDO:equivalentTo"}
xref: UMLS:C5394226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717195"}
is_a: MONDO:0020836 {source="OMIM:300425"} ! autism, susceptiblity to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14291 ! NLGN1
intersection_of: predisposes_towards MONDO:0005260 ! autism

[Term]
id: MONDO:0030005
name: epilepsy, early-onset, with or without developmental delay
synonym: "EPEDD" EXACT ABBREVIATION [OMIM:618832]
synonym: "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" EXACT [OMIM:618832]
synonym: "epilepsy, early-onset, with or without developmental delay" EXACT [OMIM:618832]
xref: DOID:0070471 {source="MONDO:equivalentTo"}
xref: MEDGEN:1709942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618832 {source="MONDO:equivalentTo"}
xref: UMLS:C5394228 {source="MEDGEN:1709942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0957599 {source="OMIM:618832"} ! epilepsy, early-onset

[Term]
id: MONDO:0030006
name: combined oxidative phosphorylation deficiency 40
subset: gard_rare {source="GARD:18006", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:570491"}
subset: orphanet_rare {source="Orphanet:570491"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40" EXACT [OMIM:618835]
synonym: "combined oxidative phosphorylation deficiency 40" EXACT [OMIM:618835]
synonym: "COXPD40" EXACT ABBREVIATION [OMIM:618835]
xref: DOID:0112117 {source="MONDO:equivalentTo"}
xref: GARD:18006 {source="MONDO:GARD"}
xref: MEDGEN:1714731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618835 {source="MONDO:equivalentTo"}
xref: Orphanet:570491 {source="MONDO:equivalentTo"}
xref: UMLS:C5394232 {source="MEDGEN:1714731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:618835"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0030007
name: combined oxidative phosphorylation deficiency 41
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41" EXACT [OMIM:618838]
synonym: "combined oxidative phosphorylation deficiency 41" EXACT [OMIM:618838]
synonym: "COXPD41" EXACT ABBREVIATION [OMIM:618838]
xref: DOID:0112119 {source="MONDO:equivalentTo"}
xref: MEDGEN:1711853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618838 {source="MONDO:equivalentTo"}
xref: UMLS:C5394236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711853"}
is_a: MONDO:0000732 {source="OMIM:618838"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0030008
name: combined oxidative phosphorylation deficiency 42
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42" EXACT [OMIM:618839]
synonym: "combined oxidative phosphorylation deficiency 42" EXACT [OMIM:618839]
synonym: "COXPD42" EXACT ABBREVIATION [OMIM:618839]
xref: DOID:0112118 {source="MONDO:equivalentTo"}
xref: MEDGEN:1709379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618839 {source="MONDO:equivalentTo"}
xref: UMLS:C5394237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709379"}
is_a: MONDO:0000732 {source="OMIM:618839"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0030009
name: alopecia-intellectual disability syndrome 4
subset: gard_rare {source="GARD:16386", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "alopecia-intellectual disability syndrome 4" EXACT [OMIM:618840]
synonym: "ALOPECIA-MENTAL RETARDATION SYNDROME 4" EXACT [OMIM:618840]
synonym: "alopecia-mental retardation syndrome 4" EXACT DEPRECATED [OMIM:618840]
synonym: "APMR4" EXACT ABBREVIATION [OMIM:618840]
xref: DOID:0080950 {source="MONDO:equivalentTo"}
xref: GARD:16386 {source="MONDO:GARD"}
xref: MEDGEN:1713432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618840 {source="MONDO:equivalentTo"}
xref: UMLS:C5394241 {source="MEDGEN:1713432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008756 {source="OMIM:618840"} ! alopecia - intellectual disability syndrome

[Term]
id: MONDO:0030010
name: hypogonadotropic hypogonadism 25 with anosmia
subset: gard_rare {source="GARD:16387", source="MONDO:GARD"}
subset: rare
synonym: "HH25" EXACT ABBREVIATION [OMIM:618841]
synonym: "HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA" EXACT [OMIM:618841]
synonym: "hypogonadotropic hypogonadism 25 with anosmia" EXACT [OMIM:618841]
xref: GARD:16387 {source="MONDO:GARD"}
xref: MEDGEN:1717461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618841 {source="MONDO:equivalentTo"}
xref: UMLS:C5394246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717461"}
is_a: MONDO:0018555 {source="OMIM:618841"} ! hypogonadotropic hypogonadism

[Term]
id: MONDO:0030012
name: Diets-Jongmans syndrome
synonym: "DIETS-JONGMANS SYNDROME" EXACT [OMIM:618846]
synonym: "diets-jongmans syndrome" EXACT [OMIM:618846]
synonym: "DIJOS" EXACT ABBREVIATION [OMIM:618846]
synonym: "Intellectual Developmental Disorder With Distinctive Facial Dysmorphism" EXACT [OMIM:618846]
xref: MEDGEN:1714920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618846 {source="MONDO:equivalentTo"}
xref: UMLS:C5394263 {source="MEDGEN:1714920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030013
name: immunodeficiency 66
subset: otar {source="MONDO:OTAR"}
synonym: "IMD66" EXACT ABBREVIATION [OMIM:618847]
synonym: "IMMUNODEFICIENCY 66" EXACT [OMIM:618847]
synonym: "immunodeficiency 66" EXACT [OMIM:618847]
xref: DOID:0111998 {source="MONDO:equivalentTo"}
xref: MEDGEN:1717128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618847 {source="MONDO:equivalentTo"}
xref: UMLS:C5394265 {source="MEDGEN:1717128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:618847"} ! immunodeficiency disease

[Term]
id: MONDO:0030014
name: muscular dystrophy, limb-girdle, autosomal recessive 26
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LGMDR26" EXACT ABBREVIATION [OMIM:618848]
synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26" EXACT [OMIM:618848]
synonym: "muscular dystrophy, limb-girdle, autosomal recessive 26" EXACT [OMIM:618848]
xref: MEDGEN:1718449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618848 {source="MONDO:equivalentTo"}
xref: UMLS:C5394268 {source="MEDGEN:1718449", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="OMIM:618848"} ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: MONDO:0030015
name: bone marrow failure syndrome 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BMFS6" EXACT ABBREVIATION [OMIM:618849]
synonym: "BONE MARROW FAILURE SYNDROME 6" EXACT [OMIM:618849]
synonym: "bone marrow failure syndrome 6" EXACT [OMIM:618849]
xref: MEDGEN:1717739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618849 {source="MONDO:equivalentTo"}
xref: UMLS:C5394274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717739"}
is_a: MONDO:0000159 {source="OMIM:618849"} ! bone marrow failure syndrome

[Term]
id: MONDO:0030016
name: obsolete MONDO:0030016
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100058

[Term]
id: MONDO:0030017
name: combined oxidative phosphorylation deficiency 43
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43" EXACT [OMIM:618851]
synonym: "combined oxidative phosphorylation deficiency 43" EXACT [OMIM:618851]
synonym: "COXPD43" EXACT ABBREVIATION [OMIM:618851]
xref: DOID:0112116 {source="MONDO:equivalentTo"}
xref: MEDGEN:1718250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618851 {source="MONDO:equivalentTo"}
xref: UMLS:C5394284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718250"}
is_a: MONDO:0000732 {source="OMIM:618851"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0030018
name: autoinflammation with episodic fever and lymphadenopathy
synonym: "AIEFL" EXACT ABBREVIATION [OMIM:618852]
synonym: "AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY" EXACT [OMIM:618852]
synonym: "autoinflammation with episodic fever and lymphadenopathy" EXACT [OMIM:618852]
synonym: "Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome" EXACT [OMIM:618852]
synonym: "Cria Syndrome" EXACT [OMIM:618852]
xref: MEDGEN:1719052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618852 {source="MONDO:equivalentTo"}
xref: UMLS:C5394286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1719052"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030019
name: anauxetic dysplasia 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANAUXETIC DYSPLASIA 3" EXACT [OMIM:618853]
synonym: "anauxetic dysplasia 3" EXACT [OMIM:618853]
synonym: "ANXD3" EXACT ABBREVIATION [OMIM:618853]
xref: DOID:0080963 {source="MONDO:equivalentTo"}
xref: MEDGEN:1718444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618853 {source="MONDO:equivalentTo"}
xref: UMLS:C5394289 {source="MEDGEN:1718444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011773 {source="OMIM:618853"} ! anauxetic dysplasia

[Term]
id: MONDO:0030020
name: combined oxidative phosphorylation deficiency 44
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44" EXACT [OMIM:618855]
synonym: "combined oxidative phosphorylation deficiency 44" EXACT [OMIM:618855]
synonym: "COXPD44" EXACT ABBREVIATION [OMIM:618855]
xref: DOID:0070424 {source="MONDO:equivalentTo"}
xref: MEDGEN:1718899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618855 {source="MONDO:equivalentTo"}
xref: UMLS:C5394293 {source="MEDGEN:1718899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:618855"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0030024
name: neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
subset: otar {source="MONDO:OTAR"}
synonym: "NEDASB" EXACT ABBREVIATION [OMIM:618859]
synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES" EXACT [OMIM:618859]
synonym: "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" EXACT [OMIM:618859]
xref: MEDGEN:1714862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618859 {source="MONDO:equivalentTo"}
xref: UMLS:C5394311 {source="MEDGEN:1714862", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0030025
name: neurodevelopmental disorder with hypotonia, microcephaly, and seizures
subset: otar {source="MONDO:OTAR"}
synonym: "NEDHYMS" EXACT ABBREVIATION [OMIM:618862]
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES" EXACT [OMIM:618862]
synonym: "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" EXACT [OMIM:618862]
xref: MEDGEN:1710110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618862 {source="MONDO:equivalentTo"}
xref: UMLS:C5394312 {source="MEDGEN:1710110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0030026
name: retinal dystrophy with leukodystrophy
synonym: "RDLKD" EXACT ABBREVIATION [OMIM:618863]
synonym: "RETINAL DYSTROPHY WITH LEUKODYSTROPHY" EXACT [OMIM:618863]
synonym: "retinal dystrophy with leukodystrophy" EXACT [OMIM:618863]
xref: DOID:0080946 {source="MONDO:equivalentTo"}
xref: MEDGEN:1715138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618863 {source="MONDO:equivalentTo"}
xref: UMLS:C5394315 {source="MEDGEN:1715138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030027
name: tremor, hereditary essential, 6
subset: otar {source="MONDO:OTAR"}
synonym: "ETM6" EXACT ABBREVIATION [OMIM:618866]
synonym: "TREMOR, HEREDITARY ESSENTIAL, 6" EXACT [OMIM:618866]
synonym: "tremor, hereditary essential, 6" EXACT [OMIM:618866]
xref: DOID:0081295 {source="MONDO:equivalentTo"}
xref: MEDGEN:1711112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618866 {source="MONDO:equivalentTo"}
xref: UMLS:C5394329 {source="MEDGEN:1711112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003233 {source="OMIM:618866"} ! essential tremor

[Term]
id: MONDO:0030028
name: neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
subset: otar {source="MONDO:OTAR"}
synonym: "CONATOC" EXACT ABBREVIATION [OMIM:618868]
synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE" EXACT [OMIM:618868]
synonym: "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" EXACT [OMIM:618868]
xref: MEDGEN:1715031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618868 {source="MONDO:equivalentTo"}
xref: UMLS:C5394335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715031"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030029
name: skeletal dysplasia, mild, with joint laxity and advanced bone age
subset: otar {source="MONDO:OTAR"}
synonym: "SDJLABA" EXACT ABBREVIATION [OMIM:618870]
synonym: "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE" EXACT [OMIM:618870]
synonym: "skeletal dysplasia, mild, with joint laxity and advanced bone age" EXACT [OMIM:618870]
xref: MEDGEN:1711043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618870 {source="MONDO:equivalentTo"}
xref: UMLS:C5394341 {source="MEDGEN:1711043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030030
name: Nizon-Isidor syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "NIZIDS" EXACT ABBREVIATION [OMIM:618872]
synonym: "NIZON-ISIDOR SYNDROME" EXACT [OMIM:618872]
synonym: "nizon-isidor syndrome" EXACT [OMIM:618872]
xref: MEDGEN:1715748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618872 {source="MONDO:equivalentTo"}
xref: UMLS:C5394350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715748"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030031
name: lissencephaly 10
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LIS10" EXACT ABBREVIATION [OMIM:618873]
synonym: "LISSENCEPHALY 10" EXACT [OMIM:618873]
synonym: "lissencephaly 10" EXACT [OMIM:618873]
xref: DOID:0112229 {source="MONDO:equivalentTo"}
xref: MEDGEN:1719546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618873 {source="MONDO:equivalentTo"}
xref: UMLS:C5394354 {source="MEDGEN:1719546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018838 {source="OMIM:618873"} ! lissencephaly spectrum disorders

[Term]
id: MONDO:0030032
name: obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb
synonym: "chromosome 17q11.2 duplication syndrome, 1.4-mb, isolated cases" EXACT [OMIM:618874, OMIM:genemap2]
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4337" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015350

[Term]
id: MONDO:0030033
name: seizures, early-onset, with neurodegeneration and brain calcifications
subset: otar {source="MONDO:OTAR"}
synonym: "seizures, early-onset, with neurodegeneration and brain calcification" EXACT [OMIM:618875, OMIM:genemap2]
synonym: "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS" EXACT [OMIM:618875]
synonym: "seizures, early-onset, with neurodegeneration and brain calcifications" EXACT [OMIM:618875]
synonym: "SENEBAC" EXACT ABBREVIATION [OMIM:618875]
xref: MEDGEN:1713658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618875 {source="MONDO:equivalentTo"}
xref: UMLS:C5394359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713658"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030034
name: epilepsy, progressive myoclonic, 11
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC, 11" EXACT [OMIM:618876]
synonym: "epilepsy, progressive myoclonic, 11" EXACT [OMIM:618876]
synonym: "EPM11" EXACT ABBREVIATION [OMIM:618876]
xref: MEDGEN:1716712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618876 {source="MONDO:equivalentTo"}
xref: UMLS:C5394362 {source="MONDO:equivalentTo", source="MEDGEN:1716712", source="MONDO:MEDGEN"}
is_a: MONDO:0020074 {source="OMIM:618876"} ! progressive myoclonus epilepsy

[Term]
id: MONDO:0030035
name: leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "LEUDEN" EXACT ABBREVIATION [OMIM:618877]
synonym: "Leuden Syndrome" EXACT [OMIM:618877]
synonym: "LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME" EXACT [OMIM:618877]
synonym: "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" EXACT [OMIM:618877]
xref: MEDGEN:1719567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618877 {source="MONDO:equivalentTo"}
xref: UMLS:C5394367 {source="MEDGEN:1719567", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030036
name: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "LEMSPAD" EXACT ABBREVIATION [OMIM:618878]
synonym: "Lemspad Syndrome" EXACT [OMIM:618878]
synonym: "LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME" EXACT [OMIM:618878]
synonym: "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" EXACT [OMIM:618878]
xref: MEDGEN:1719764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618878 {source="MONDO:equivalentTo"}
xref: UMLS:C5394371 {source="MEDGEN:1719764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030037
name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 22" EXACT [OMIM:618879]
synonym: "NEDHCAS" EXACT ABBREVIATION [OMIM:618879]
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES" EXACT [OMIM:618879]
synonym: "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" EXACT [OMIM:618879]
xref: MEDGEN:1710849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618879 {source="MONDO:equivalentTo"}
xref: UMLS:C5394372 {source="MEDGEN:1710849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8965 {source="OMIM:618879"} ! PIGK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0030038
name: glaucoma, primary closed-angle
subset: otar {source="MONDO:OTAR"}
synonym: "GLAUCOMA, PRIMARY CLOSED-ANGLE" EXACT [OMIM:618880]
synonym: "glaucoma, primary closed-angle" EXACT [OMIM:618880]
synonym: "GLCC" EXACT ABBREVIATION [OMIM:618880]
xref: MEDGEN:1712967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618880 {source="MONDO:equivalentTo"}
xref: UMLS:C5394374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712967"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030042
name: proteinuria, chronic benign
subset: otar {source="MONDO:OTAR"}
synonym: "PROCHOB" EXACT ABBREVIATION [OMIM:618884]
synonym: "PROTEINURIA, CHRONIC BENIGN" EXACT [OMIM:618884]
synonym: "proteinuria, chronic benign" EXACT [OMIM:618884, OMIM:genemap2]
xref: MEDGEN:1714078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618884 {source="MONDO:equivalentTo"}
xref: UMLS:C5394384 {source="MEDGEN:1714078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030043
name: congenital disorder of glycosylation, type iit
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cdg Iit" EXACT [OMIM:618885]
synonym: "CDG2T" EXACT ABBREVIATION [OMIM:618885]
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt" EXACT [OMIM:618885]
xref: MEDGEN:1709627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618885 {source="MONDO:equivalentTo"}
xref: UMLS:C5394387 {source="MEDGEN:1709627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="OMIM:618885"} ! congenital disorder of glycosylation type II
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0030044
name: pseudo-TORCH syndrome 3
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PSEUDO-TORCH SYNDROME 3" EXACT [OMIM:618886]
synonym: "pseudo-torch syndrome 3" EXACT [OMIM:618886]
synonym: "PTORCH3" EXACT ABBREVIATION [OMIM:618886]
xref: MEDGEN:1708513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618886 {source="MONDO:equivalentTo"}
xref: UMLS:C5394391 {source="MEDGEN:1708513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009626 {source="OMIM:618886"} ! pseudo-TORCH syndrome

[Term]
id: MONDO:0030045
name: Liberfarb syndrome
def: "A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature." [OMIM:618889, PMID:31263216]
subset: gard_rare {source="GARD:22350", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589442"}
subset: orphanet_rare {source="Orphanet:589442"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Liberfarb syndrome" EXACT [OMIM:618889, Orphanet:589442]
synonym: "LIBF" EXACT ABBREVIATION [OMIM:618889]
synonym: "short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome" EXACT [MONDO:0035635]
synonym: "spondyloepimetaphyseal dysplasia, Liberfarb Type" EXACT [OMIM:618889]
xref: GARD:22350 {source="MONDO:GARD"}
xref: MEDGEN:1709796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618889 {source="MONDO:equivalentTo"}
xref: Orphanet:589442 {source="MONDO:equivalentTo"}
xref: UMLS:C5394404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709796"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:618889"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8999 {source="OMIM:618889"} ! PISD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4928" xsd:anyURI

[Term]
id: MONDO:0030046
name: neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
subset: otar {source="MONDO:OTAR"}
synonym: "NEDBASS" EXACT ABBREVIATION [OMIM:618890]
synonym: "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY" EXACT [OMIM:618890]
synonym: "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" EXACT [OMIM:618890]
xref: MEDGEN:1711516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618890 {source="MONDO:equivalentTo"}
xref: UMLS:C5394423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711516"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0030047
name: microcephaly, developmental delay, and brittle hair syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "MDBH" EXACT ABBREVIATION [OMIM:618891]
synonym: "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME" EXACT [OMIM:618891]
synonym: "microcephaly, developmental delay, and brittle hair syndrome" EXACT [OMIM:618891]
xref: MEDGEN:1718781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618891 {source="MONDO:equivalentTo"}
xref: UMLS:C5394425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718781"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030048
name: harderoporphyria
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:659672"}
subset: orphanet_rare {source="Orphanet:659672"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HARDEROPORPHYRIA" EXACT ABBREVIATION [OMIM:618892]
synonym: "harderoporphyria" EXACT [OMIM:618892]
synonym: "HARPO" EXACT ABBREVIATION [OMIM:618892]
xref: MEDGEN:137981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562816 {source="MONDO:equivalentTo"}
xref: OMIM:618892 {source="MONDO:equivalentTo"}
xref: Orphanet:659672 {source="MONDO:equivalentTo"}
xref: UMLS:C0342859 {source="MEDGEN:137981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {comment="OMIM:618892"} ! hereditary disease
is_a: MONDO:0800180 {source="https://clinicalgenome.org/affiliation/40097/", source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"} ! CPOX-related hereditary coproporphyria
relationship: RO:0004001 http://identifiers.org/hgnc/2321 {source="OMIM:618892"} ! has material basis in gain of function germline mutation in CPOX

[Term]
id: MONDO:0030049
name: 46,xx sex reversal 5
subset: otar {source="MONDO:OTAR"}
synonym: "46,XX SEX REVERSAL 5" EXACT [OMIM:618901]
synonym: "46,xx sex reversal 5" EXACT [OMIM:618901]
synonym: "SRXX5" EXACT ABBREVIATION [OMIM:618901]
xref: DOID:0080943 {source="MONDO:equivalentTo"}
xref: MEDGEN:1713956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618901 {source="MONDO:equivalentTo"}
xref: UMLS:C5394441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713956"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030051
name: intellectual developmental disorder with autistic features and language delay, with or without seizures
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18522", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDDALDS" EXACT ABBREVIATION [OMIM:618906]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES" EXACT [OMIM:618906]
synonym: "intellectual developmental disorder with autistic features and language delay, with or without seizures" EXACT [OMIM:618906]
xref: DOID:0081430 {source="MONDO:equivalentTo"}
xref: GARD:18522 {source="MONDO:GARD"}
xref: MEDGEN:1715081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618906 {source="MONDO:equivalentTo"}
xref: UMLS:C5394447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715081"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030052
name: obsolete disease with punctate palmoplantar keratoderma as a major feature
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0030054
name: developmental and epileptic encephalopathy, 86
subset: gard_rare {source="GARD:16391", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE86" EXACT ABBREVIATION [OMIM:618910]
synonym: "developmental and epileptic encephalopathy 86" EXACT [OMIM:618910, OMIM:genemap2]
synonym: "EIEE86" EXACT ABBREVIATION [OMIM:618910]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86" EXACT [OMIM:618910]
synonym: "epileptic encephalopathy, early infantile, 86" EXACT [OMIM:618910]
xref: DOID:0112220 {source="MONDO:equivalentTo"}
xref: GARD:16391 {source="MONDO:GARD"}
xref: MEDGEN:1711964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618910 {source="MONDO:equivalentTo"}
xref: UMLS:C5394462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711964"}
is_a: MONDO:0100062 {source="OMIM:618910"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030055
name: neuronopathy, distal hereditary motor, autosomal recessive 8
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "sorbitol dehydrogenase deficiency" EXACT [OMIM:618912]
synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [OMIM:618912]
synonym: "SORDD" EXACT ABBREVIATION [OMIM:618912]
xref: DOID:0081427 {source="MONDO:equivalentTo"}
xref: MEDGEN:1714781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618912 {source="MONDO:equivalentTo"}
xref: UMLS:C5394466 {source="MEDGEN:1714781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015363 {source="OMIM:618912"} ! neuronopathy, distal hereditary motor, autosomal recessive

[Term]
id: MONDO:0030056
name: Fanconi renotubular syndrome 5
subset: gard_rare {source="GARD:16392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FANCONI RENOTUBULAR SYNDROME 5" EXACT [OMIM:618913]
synonym: "Fanconi renotubular syndrome 5" EXACT [OMIM:618913]
synonym: "Fanconi Renotubular Syndrome, Acadian Variant" EXACT [OMIM:618913]
synonym: "FRTS5" EXACT ABBREVIATION [OMIM:618913]
xref: DOID:0080761 {source="MONDO:equivalentTo"}
xref: GARD:16392 {source="MONDO:GARD"}
xref: MEDGEN:1711127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618913 {source="MONDO:equivalentTo"}
xref: UMLS:C5394473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711127"}
is_a: MONDO:0100238 {source="OMIM:618913"} ! inherited Fanconi renotubular syndrome

[Term]
id: MONDO:0030057
name: neurodevelopmental, jaw, eye, and digital syndrome
subset: gard_rare {source="GARD:18523", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDJED" EXACT ABBREVIATION [OMIM:618914]
synonym: "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME" EXACT [OMIM:618914]
synonym: "neurodevelopmental, jaw, eye, and digital syndrome" EXACT [OMIM:618914]
xref: GARD:18523 {source="MONDO:GARD"}
xref: MEDGEN:1712714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618914 {source="MONDO:equivalentTo"}
xref: UMLS:C5394477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712714"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030058
name: hearing loss, autosomal dominant 77
subset: gard_rare {source="GARD:18155", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, autosomal dominant 77" NARROW [OMIM:618915, OMIM:genemap2]
synonym: "DFNA77" NARROW ABBREVIATION [OMIM:618915]
xref: DOID:0112168 {source="MONDO:equivalentTo"}
xref: GARD:18155 {source="MONDO:GARD"}
xref: MEDGEN:1709284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618915 {source="MONDO:equivalentTo"}
xref: UMLS:C5394499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709284"}
is_a: MONDO:0019587 {source="OMIM:618915"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0030059
name: developmental and epileptic encephalopathy, 87
subset: gard_rare {source="GARD:16393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE87" EXACT ABBREVIATION [OMIM:618916]
synonym: "developmental and epileptic encephalopathy 87" EXACT [OMIM:618916, OMIM:genemap2]
synonym: "EIEE87" EXACT ABBREVIATION [OMIM:618916]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87" EXACT [OMIM:618916]
synonym: "epileptic encephalopathy, early infantile, 87" EXACT [OMIM:618916]
xref: DOID:0112221 {source="MONDO:equivalentTo"}
xref: GARD:16393 {source="MONDO:GARD"}
xref: MEDGEN:1719688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618916 {source="MONDO:equivalentTo"}
xref: UMLS:C5394501 {source="MEDGEN:1719688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:618916"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030060
name: neurodevelopmental disorder with language impairment and behavioral abnormalities
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "NEDLIB" EXACT ABBREVIATION [OMIM:618917]
synonym: "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" EXACT [OMIM:618917]
synonym: "neurodevelopmental disorder with language impairment and behavioral abnormalities" EXACT [OMIM:618917]
xref: MEDGEN:1708389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618917 {source="MONDO:equivalentTo"}
xref: UMLS:C5394502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1708389"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0030061
name: periventricular nodular heterotopia 9
subset: gard_rare {source="GARD:16394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 9" EXACT [OMIM:618918]
synonym: "periventricular nodular heterotopia 9" EXACT [OMIM:618918]
synonym: "PVNH9" EXACT ABBREVIATION [OMIM:618918]
xref: GARD:16394 {source="MONDO:GARD"}
xref: MEDGEN:1718470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618918 {source="MONDO:equivalentTo"}
xref: UMLS:C5394503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718470"}
is_a: MONDO:0020341 {source="OMIM:618918"} ! periventricular nodular heterotopia

[Term]
id: MONDO:0030062
name: arrhythmogenic right ventricular dysplasia, familial, 14
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 14" EXACT [OMIM:618920]
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14" EXACT [OMIM:618920]
synonym: "arrhythmogenic right ventricular dysplasia, familial, 14" EXACT [OMIM:618920]
synonym: "ARVD14" EXACT ABBREVIATION [OMIM:618920]
xref: DOID:0080959 {source="MONDO:equivalentTo"}
xref: MEDGEN:1712001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618920 {source="MONDO:equivalentTo"}
xref: UMLS:C5394505 {source="MEDGEN:1712001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016342 {source="Orphanet:293910"} ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1759 ! CDH2

[Term]
id: MONDO:0030063
name: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
subset: gard_rare {source="GARD:18524", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDSHBA" EXACT ABBREVIATION [OMIM:618922]
synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" EXACT [OMIM:618922, OMIM:genemap2]
synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES" EXACT [OMIM:618922]
synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" EXACT [OMIM:618922]
xref: GARD:18524 {source="MONDO:GARD"}
xref: MEDGEN:1708579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618922 {source="MONDO:equivalentTo"}
xref: UMLS:C5394517 {source="MEDGEN:1708579", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030064
name: episodic ataxia, type 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EA9" EXACT ABBREVIATION [OMIM:618924]
synonym: "EPISODIC ATAXIA, TYPE 9" EXACT [OMIM:618924]
synonym: "episodic ataxia, type 9" EXACT [OMIM:618924]
xref: DOID:0060965 {source="MONDO:equivalentTo"}
xref: MEDGEN:1714171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618924 {source="MONDO:equivalentTo"}
xref: UMLS:C5394520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714171"}
is_a: MONDO:0016227 {source="OMIM:618924"} ! hereditary episodic ataxia

[Term]
id: MONDO:0030065
name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "ACOGS" EXACT ABBREVIATION [OMIM:618929]
synonym: "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" EXACT [OMIM:618929]
synonym: "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" EXACT [OMIM:618929]
xref: DOID:0080948 {source="MONDO:equivalentTo"}
xref: MEDGEN:1718475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618929 {source="MONDO:equivalentTo"}
xref: UMLS:C5394523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718475"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030066
name: granulomatous disease, chronic, autosomal recessive, 5
subset: gard_rare {source="GARD:16395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CGD5" EXACT ABBREVIATION [OMIM:618935]
synonym: "chronic granulomatous disease 5, autosomal recessive" EXACT [OMIM:618935, OMIM:genemap2]
synonym: "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5" EXACT [OMIM:618935]
synonym: "granulomatous disease, chronic, autosomal recessive, 5" EXACT [OMIM:618935]
synonym: "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency" EXACT [OMIM:618935]
xref: DOID:0070368 {source="MONDO:equivalentTo"}
xref: GARD:16395 {source="MONDO:GARD"}
xref: MEDGEN:1710326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618935 {source="MONDO:equivalentTo"}
xref: UMLS:C5394542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710326"}
is_a: MONDO:0018305 {source="OMIM:618935"} ! chronic granulomatous disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030067
name: Treacher Collins syndrome 4
subset: gard_rare {source="GARD:16396", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TCS4" EXACT ABBREVIATION [OMIM:618939]
synonym: "TREACHER COLLINS SYNDROME 4" EXACT [OMIM:618939]
synonym: "treacher collins syndrome 4" EXACT [OMIM:618939]
synonym: "Treacher-Collins syndrome 4" EXACT [OMIM:618939, OMIM:genemap2]
xref: DOID:0080792 {source="MONDO:equivalentTo"}
xref: GARD:16396 {source="MONDO:GARD"}
xref: MEDGEN:1712280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618939 {source="MONDO:equivalentTo"}
xref: UMLS:C5394546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712280"}
is_a: MONDO:0002457 {source="OMIM:618939"} ! Treacher-Collins syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030069
name: hyper-IgE recurrent infection syndrome 5, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HIES5" EXACT ABBREVIATION [OMIM:618944]
synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE" EXACT [OMIM:618944]
synonym: "hyper-IgE recurrent infection syndrome 5, autosomal recessive" EXACT [OMIM:618944]
xref: MEDGEN:1716052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618944 {source="MONDO:equivalentTo"}
xref: UMLS:C5394550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716052"}
is_a: MONDO:0018037 {source="OMIM:618944"} ! hyper-IgE syndrome

[Term]
id: MONDO:0030070
name: heterotaxy, visceral, 9, autosomal, with male infertility
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY" EXACT [OMIM:618948]
synonym: "heterotaxy, visceral, 9, autosomal, with male infertility" EXACT [OMIM:618948]
synonym: "HTX9" EXACT ABBREVIATION [OMIM:618948]
xref: MEDGEN:1717772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618948 {source="MONDO:equivalentTo"}
xref: UMLS:C5394551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717772"}
is_a: MONDO:0018677 {source="OMIM:618948"} ! visceral heterotaxy

[Term]
id: MONDO:0030071
name: retinitis pigmentosa 89
subset: otar {source="MONDO:OTAR"}
synonym: "RETINITIS PIGMENTOSA 89" EXACT [OMIM:618955]
synonym: "retinitis pigmentosa 89" EXACT [OMIM:618955]
synonym: "RP89" EXACT ABBREVIATION [OMIM:618955]
xref: DOID:0112146 {source="MONDO:equivalentTo"}
xref: MEDGEN:1710499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618955 {source="MONDO:equivalentTo"}
xref: UMLS:C5394552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710499"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030072
name: developmental and epileptic encephalopathy, 88
subset: gard_rare {source="GARD:16398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE88" EXACT ABBREVIATION [OMIM:618959]
synonym: "developmental and epileptic encephalopathy 88" EXACT [OMIM:618959, OMIM:genemap2]
synonym: "EIEE88" EXACT ABBREVIATION [OMIM:618959]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88" EXACT [OMIM:618959]
synonym: "epileptic encephalopathy, early infantile, 88" EXACT [OMIM:618959]
xref: DOID:0112222 {source="MONDO:equivalentTo"}
xref: GARD:16398 {source="MONDO:GARD"}
xref: MEDGEN:1712195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618959 {source="MONDO:equivalentTo"}
xref: UMLS:C5394553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712195"}
is_a: MONDO:0100062 {source="OMIM:618959"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030073
name: Mitchell syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631248"}
subset: orphanet_rare {source="Orphanet:631248"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACOX1 upregulation" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40049/, PMID:37236006]
synonym: "MITCH" EXACT ABBREVIATION [OMIM:618960]
synonym: "Mitchell syndrome" EXACT [OMIM:618960]
xref: DOID:0070516 {source="MONDO:equivalentTo"}
xref: MEDGEN:1714342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618960 {source="MONDO:equivalentTo"}
xref: Orphanet:631248 {source="MONDO:equivalentTo"}
xref: UMLS:C5394554 {source="MEDGEN:1714342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618960"} ! hereditary disease
is_a: MONDO:0100306 {source="https://github.com/monarch-initiative/mondo/issues/5083"} ! disorder of defective peroxisome oxidative status
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/119 {source="OMIM:618960"} ! ACOX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5083" xsd:anyURI

[Term]
id: MONDO:0030074
name: spondylometaphyseal dysplasia with corneal dystrophy
subset: gard_rare {source="GARD:18016", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:589435"}
subset: orphanet_rare {source="Orphanet:589435"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SMDCD" EXACT ABBREVIATION [OMIM:618961]
synonym: "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY" EXACT [OMIM:618961]
synonym: "spondylometaphyseal dysplasia with corneal dystrophy" EXACT [OMIM:618961]
xref: DOID:0112303 {source="MONDO:equivalentTo"}
xref: GARD:18016 {source="MONDO:GARD"}
xref: MEDGEN:1714019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618961 {source="MONDO:equivalentTo"}
xref: Orphanet:589435 {source="MONDO:equivalentTo"}
xref: UMLS:C5394555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714019"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030077
name: vertebral, cardiac, renal, and limb defects syndrome 3
subset: gard_rare {source="GARD:18510", source="MONDO:GARD"}
subset: rare
synonym: "Congenital Nad Deficiency Disorder 3" EXACT [OMIM:618845]
synonym: "VCRL3" EXACT ABBREVIATION [OMIM:618845]
synonym: "VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3" EXACT [OMIM:618845]
synonym: "vertebral, cardiac, renal, and limb defects syndrome 3" EXACT [OMIM:618845]
xref: GARD:18510 {source="MONDO:GARD"}
xref: MEDGEN:1709064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618845 {source="MONDO:equivalentTo"}
xref: UMLS:C5394250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709064"}
is_a: MONDO:0020831 {source="OMIM:618845"} ! congenital vertebral-cardiac-renal anomalies syndrome

[Term]
id: MONDO:0030087
name: diabetes mellitus, permanent neonatal 2
subset: gard_rare {source="GARD:16388", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" EXACT [OMIM:618856]
synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 2" EXACT [OMIM:618856]
synonym: "diabetes mellitus, permanent neonatal 2" EXACT [OMIM:618856]
synonym: "diabetes, permanent neonatal 2, with or without neurologic features" EXACT [OMIM:618856, OMIM:genemap2]
synonym: "PNDM2" EXACT ABBREVIATION [OMIM:618856]
xref: GARD:16388 {source="MONDO:GARD"}
xref: MEDGEN:1713823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618856 {source="MONDO:equivalentTo"}
xref: UMLS:C5394296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713823"}
is_a: MONDO:0100164 {source="OMIM:618856"} ! permanent neonatal diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030088
name: diabetes mellitus, permanent neonatal 3
subset: gard_rare {source="GARD:16389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 2" EXACT [OMIM:618857]
synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 3" EXACT [OMIM:618857]
synonym: "diabetes mellitus, permanent neonatal 3" EXACT [OMIM:618857]
synonym: "diabetes mellitus, permanent neonatal 3, with or without neurologic features" EXACT [OMIM:618857, OMIM:genemap2]
synonym: "PNDM3" EXACT ABBREVIATION [OMIM:618857]
xref: GARD:16389 {source="MONDO:GARD"}
xref: MEDGEN:1717271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618857 {source="MONDO:equivalentTo"}
xref: UMLS:C5394303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717271"}
is_a: MONDO:0100164 {source="OMIM:618857"} ! permanent neonatal diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030089
name: diabetes mellitus, permanent neonatal 4
subset: gard_rare {source="GARD:16390", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 4" EXACT [OMIM:618858]
synonym: "diabetes mellitus, permanent neonatal 4" EXACT [OMIM:618858]
synonym: "PNDM4" EXACT ABBREVIATION [OMIM:618858]
xref: GARD:16390 {source="MONDO:GARD"}
xref: MEDGEN:1711191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618858 {source="MONDO:equivalentTo"}
xref: UMLS:C5394307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711191"}
is_a: MONDO:0100164 {source="OMIM:618858"} ! permanent neonatal diabetes mellitus

[Term]
id: MONDO:0030105
name: galactosemia 4
subset: gard_rare {source="GARD:18005", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:570422"}
subset: orphanet_rare {source="Orphanet:570422"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GALAC4" EXACT ABBREVIATION [OMIM:618881]
synonym: "Galactose Mutarotase Deficiency" EXACT [OMIM:618881]
synonym: "GALACTOSEMIA IV" EXACT [OMIM:618881]
synonym: "galactosemia iv" EXACT [OMIM:618881]
synonym: "GALM mutarotase deficiency" RELATED [https://orcid.org/0000-0002-9731-6356]
xref: DOID:0060969 {source="MONDO:equivalentTo"}
xref: GARD:18005 {source="MONDO:GARD"}
xref: MEDGEN:1718159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618881 {source="MONDO:equivalentTo"}
xref: Orphanet:570422 {source="MONDO:equivalentTo"}
xref: UMLS:C5394377 {source="MEDGEN:1718159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018116 {source="OMIM:618881"} ! galactosemia
is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5835" xsd:anyURI

[Term]
id: MONDO:0030116
name: silver-russell syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SILVER-RUSSELL SYNDROME 2" EXACT [OMIM:618905]
synonym: "silver-russell syndrome 2" EXACT [OMIM:618905]
synonym: "SRS2" EXACT ABBREVIATION [OMIM:618905]
synonym: "Uniparental Disomy, Maternal, Chromosome 7" EXACT [OMIM:618905]
xref: MEDGEN:1714148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618905 {source="MONDO:equivalentTo"}
xref: UMLS:C5394446 {source="MEDGEN:1714148", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008394 {source="OMIM:618905"} ! Silver-Russell syndrome

[Term]
id: MONDO:0030118
name: silver-russell syndrome 4
subset: gard_rare {source="GARD:18464", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SILVER-RUSSELL SYNDROME 4" EXACT [OMIM:618907]
synonym: "silver-russell syndrome 4" EXACT [OMIM:618907]
synonym: "SRS4" EXACT ABBREVIATION [OMIM:618907]
xref: GARD:18464 {source="MONDO:GARD"}
xref: MEDGEN:1712866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618907 {source="MONDO:equivalentTo"}
xref: UMLS:C5394450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712866"}
is_a: MONDO:0008394 {source="OMIM:618907"} ! Silver-Russell syndrome

[Term]
id: MONDO:0030134
name: oculopharyngodistal myopathy 2
subset: gard_rare {source="GARD:16397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OCULOPHARYNGODISTAL MYOPATHY 2" EXACT [OMIM:618940]
synonym: "oculopharyngodistal myopathy 2" EXACT [OMIM:618940]
synonym: "OPDM2" EXACT ABBREVIATION [OMIM:618940]
xref: DOID:0081298 {source="MONDO:equivalentTo"}
xref: GARD:16397 {source="MONDO:GARD"}
xref: MEDGEN:1718769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618940 {source="MONDO:equivalentTo"}
xref: UMLS:C5394548 {source="MONDO:equivalentTo", source="MEDGEN:1718769", source="MONDO:MEDGEN"}
is_a: MONDO:0025193 {source="OMIM:618940"} ! oculopharyngodistal myopathy

[Term]
id: MONDO:0030258
name: pontocerebellar hypoplasia, type 14
subset: gard_rare {source="GARD:18032", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:613274"}
subset: orphanet_rare {source="Orphanet:613274"}
subset: rare
synonym: "PCH14" EXACT ABBREVIATION [OMIM:619301, Orphanet:613274]
synonym: "pontocerebellar hypoplasia, type 14" EXACT [OMIM:619301]
xref: DOID:0112325 {source="MONDO:equivalentTo"}
xref: GARD:18032 {source="MONDO:GARD"}
xref: MEDGEN:1778516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619301 {source="MONDO:equivalentTo"}
xref: Orphanet:613274 {source="MONDO:equivalentTo"}
xref: UMLS:C5543322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778516"}
is_a: MONDO:0020135 {source="OMIM:619301"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0030259
name: pontocerebellar hypoplasia, type 15
subset: gard_rare {source="GARD:18563", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PCH15" EXACT ABBREVIATION [OMIM:619302]
synonym: "pontocerebellar hypoplasia, type 15" EXACT [OMIM:619302]
xref: DOID:0112326 {source="MONDO:equivalentTo"}
xref: GARD:18563 {source="MONDO:GARD"}
xref: MEDGEN:1781311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619302 {source="MONDO:equivalentTo"}
xref: UMLS:C5543326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781311"}
is_a: MONDO:0020135 {source="OMIM:619302"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0030260
name: pontocerebellar hypoplasia, type 1E
subset: gard_rare {source="GARD:16441", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCH1E" EXACT ABBREVIATION [OMIM:619303]
synonym: "pontocerebellar hypoplasia, type 1E" EXACT [OMIM:619303]
xref: DOID:0112330 {source="MONDO:equivalentTo"}
xref: GARD:16441 {source="MONDO:GARD"}
xref: MEDGEN:1788285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619303 {source="MONDO:equivalentTo"}
xref: UMLS:C5543328 {source="MEDGEN:1788285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020135 {source="OMIM:619303"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0030261
name: pontocerebellar hypoplasia, type 1F
subset: gard_rare {source="GARD:16442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PCH1F" EXACT ABBREVIATION [OMIM:619304]
synonym: "pontocerebellar hypoplasia, type 1F" EXACT [OMIM:619304]
xref: DOID:0112331 {source="MONDO:equivalentTo"}
xref: GARD:16442 {source="MONDO:GARD"}
xref: MEDGEN:1785905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619304 {source="MONDO:equivalentTo"}
xref: UMLS:C5543331 {source="MEDGEN:1785905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020135 {source="OMIM:619304"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0030263
name: leukodystrophy, hypomyelinating, 21
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD21" EXACT ABBREVIATION [OMIM:619310]
synonym: "leukodystrophy, hypomyelinating, 21" EXACT [OMIM:619310]
xref: DOID:0070407 {source="MONDO:equivalentTo"}
xref: MEDGEN:1778269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619310 {source="MONDO:equivalentTo"}
xref: UMLS:C5543334 {source="MEDGEN:1778269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="OMIM:619310"} ! leukodystrophy

[Term]
id: MONDO:0030266
name: immunodeficiency 80 with or without congenital cardiomyopathy
def: "An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619313]
synonym: "IMD80" EXACT ABBREVIATION [OMIM:619313]
synonym: "immunodeficiency 80 with or without cardiomyopathy" EXACT [OMIM:619313, OMIM:genemap2]
synonym: "immunodeficiency 80 with or without congenital cardiomyopathy" EXACT [OMIM:619313]
synonym: "immunodeficiency with or without congenital cardiomyopathy" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "MCM10 deficiency" EXACT [OMIM:619313]
xref: MEDGEN:1786417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619313 {source="MONDO:equivalentTo"}
xref: UMLS:C5543344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786417"}
is_a: MONDO:0021094 {source="OMIM:619313"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030268
name: developmental and epileptic encephalopathy 6B
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE6B" EXACT ABBREVIATION [OMIM:619317]
synonym: "developmental and epileptic encephalopathy 6B" EXACT [OMIM:619317]
synonym: "developmental and epileptic encephalopathy 6B, non-Dravet" EXACT [OMIM:619317, OMIM:genemap2]
xref: DOID:0070379 {source="MONDO:equivalentTo"}
xref: MEDGEN:1779648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619317 {source="MONDO:equivalentTo"}
xref: UMLS:C5543353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779648"}
is_a: MONDO:0100062 {source="OMIM:619317"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030270
name: lymphatic malformation 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LMPHM9" EXACT ABBREVIATION [OMIM:619319]
synonym: "lymphatic malformation 9" EXACT [OMIM:619319]
xref: MEDGEN:1779656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619319 {source="MONDO:equivalentTo"}
xref: UMLS:C5543365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779656"}
is_a: MONDO:0019313 {source="OMIM:619319"} ! lymphatic malformation

[Term]
id: MONDO:0030281
name: arthrogryposis multiplex congenita 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AMC6" EXACT ABBREVIATION [OMIM:619334]
synonym: "arthrogryposis multiplex congenita 6" EXACT [OMIM:619334]
xref: DOID:0070336 {source="MONDO:equivalentTo"}
xref: MEDGEN:1786758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619334 {source="MONDO:equivalentTo"}
xref: UMLS:C5543431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786758"}
is_a: MONDO:0015168 {source="OMIM:619334"} ! arthrogryposis multiplex congenita

[Term]
id: MONDO:0030293
name: angioedema, hereditary, 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angioedema, hereditary, 5" EXACT [OMIM:619361]
synonym: "HAE5" EXACT ABBREVIATION [OMIM:619361]
xref: MEDGEN:1780904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619361 {source="MONDO:equivalentTo"}
xref: UMLS:C5543508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780904"}
is_a: MONDO:0019623 {source="OMIM:619361"} ! hereditary angioedema

[Term]
id: MONDO:0030294
name: megacystis-microcolon-intestinal hypoperistalsis syndrome 3
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome 3" EXACT [OMIM:619362]
synonym: "MMIHS3" EXACT ABBREVIATION [OMIM:619362]
xref: MEDGEN:1780019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619362 {source="MONDO:equivalentTo"}
xref: UMLS:C5543513 {source="MEDGEN:1780019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0025986 {source="OMIM:619362"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome

[Term]
id: MONDO:0030296
name: megacystis-microcolon-intestinal hypoperistalsis syndrome 4
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome 4" EXACT [OMIM:619365]
synonym: "MMIHS4" EXACT ABBREVIATION [OMIM:619365]
xref: MEDGEN:1783600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619365 {source="MONDO:equivalentTo"}
xref: UMLS:C5543519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783600"}
is_a: MONDO:0025986 {source="OMIM:619365"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome

[Term]
id: MONDO:0030298
name: angioedema, hereditary, 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "angioedema, hereditary, 8" EXACT [OMIM:619367]
synonym: "HAE8" EXACT [OMIM:619367]
xref: MEDGEN:1780930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619367 {source="MONDO:equivalentTo"}
xref: UMLS:C5543528 {source="MEDGEN:1780930", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019623 {source="OMIM:619367"} ! hereditary angioedema

[Term]
id: MONDO:0030300
name: cardiomyopathy, dilated, 2D
def: "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13." [DOID:0081160]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 2D" EXACT [OMIM:619371]
synonym: "CMD2D" EXACT ABBREVIATION [OMIM:619371]
xref: DOID:0081160 {source="MONDO:equivalentTo"}
xref: MEDGEN:1782612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619371 {source="MONDO:equivalentTo"}
xref: UMLS:C5543535 {source="MEDGEN:1782612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="OMIM:619371"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0030302
name: immunodeficiency 81
def: "A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, PMID:33231617]
synonym: "IMD81" EXACT ABBREVIATION [OMIM:619374]
synonym: "immunodeficiency 81" EXACT [OMIM:619374]
synonym: "T-B+ severe combined immunodeficiency due to SLP76 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1788669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619374 {source="MONDO:equivalentTo"}
xref: UMLS:C5543540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788669"}
is_a: MONDO:0021094 {source="OMIM:619374"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030307
name: spermatogenic failure 55
synonym: "spermatogenic failure 55" EXACT [OMIM:619380]
synonym: "SPGF55" EXACT ABBREVIATION [OMIM:619380]
xref: DOID:0112337 {source="MONDO:equivalentTo"}
xref: MEDGEN:1781781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619380 {source="MONDO:equivalentTo"}
xref: UMLS:C5543580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781781"}
is_a: MONDO:0004983 {source="OMIM:619380"} ! spermatogenic failure

[Term]
id: MONDO:0030308
name: immunodeficiency 82 with systemic inflammation
def: "A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "IMD82" EXACT ABBREVIATION [OMIM:619381]
synonym: "immunodeficiency 82 with systemic inflammation" EXACT [OMIM:619381]
synonym: "immunodeficiency with systemic inflammation" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1781752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619381 {source="MONDO:equivalentTo"}
xref: UMLS:C5543581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781752"}
is_a: MONDO:0021094 {source="OMIM:619381"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030309
name: Leber hereditary optic neuropathy, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Leber hereditary optic neuropathy, autosomal recessive" EXACT [OMIM:619382]
synonym: "LHONAR" EXACT ABBREVIATION [OMIM:619382]
xref: MEDGEN:1786310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:619382 {source="MONDO:equivalentTo"}
xref: UMLS:C5543589 {source="MEDGEN:1786310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100223 {source="OMIM:619382"} ! mitochondrial complex I deficiency, nuclear type
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619382"} ! inherited

[Term]
id: MONDO:0030311
name: combined oxidative phosphorylation deficiency 52
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 52" EXACT [OMIM:619386]
synonym: "COXPD52" EXACT ABBREVIATION [OMIM:619386]
xref: DOID:0070425 {source="MONDO:equivalentTo"}
xref: MEDGEN:1780479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619386 {source="MONDO:equivalentTo"}
xref: UMLS:C5543592 {source="MEDGEN:1780479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:619386"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0030312
name: spinocerebellar ataxia, autosomal recessive 29
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Barakat-Van Ham-Kaya syndrome" EXACT [OMIM:619389]
synonym: "neurodevelopmental disorder with hypotonia and cerebellar ataxia" EXACT [OMIM:619389]
synonym: "SCAR29" EXACT ABBREVIATION [OMIM:619389]
synonym: "spinocerebellar ataxia, autosomal recessive 29" EXACT [OMIM:619389]
xref: DOID:0070410 {source="MONDO:equivalentTo"}
xref: MEDGEN:1788435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619389 {source="MONDO:equivalentTo"}
xref: UMLS:C5543595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788435"}
is_a: MONDO:0015244 {source="OMIM:619389"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0030313
name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
synonym: "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10" EXACT [OMIM:619396]
synonym: "herpes simplex encephalitis, susceptibility to, 7" RELATED [OMIM:619396]
synonym: "IIAE10" EXACT ABBREVIATION [OMIM:619396]
xref: MEDGEN:1782836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619396 {source="MONDO:equivalentTo"}
xref: UMLS:C5543600 {source="MEDGEN:1782836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800174 {source="OMIM:619396"} ! encephalitis, acute, infection-induced, susceptibility to
relationship: has_characteristic PATO:0000389 ! acute
relationship: predisposes_towards MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0030314
name: inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive
synonym: "IBD31" EXACT ABBREVIATION [OMIM:619398]
synonym: "inflammatory bowel disease (infantile ulcerative colitis) 31" EXACT [OMIM:619398, OMIM:genemap2]
synonym: "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" EXACT [OMIM:619398]
synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:619398]
xref: MEDGEN:1783277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619398 {source="MONDO:equivalentTo"}
xref: UMLS:C5444224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783277"}
is_a: MONDO:0005265 {source="OMIM:619398"} ! inflammatory bowel disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030316
name: lymphatic malformation 11
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LMPHM11" EXACT ABBREVIATION [OMIM:619401]
synonym: "lymphatic malformation 11" EXACT [OMIM:619401]
xref: MEDGEN:1784862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619401 {source="MONDO:equivalentTo"}
xref: UMLS:C5543614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784862"}
is_a: MONDO:0019313 {source="OMIM:619401"} ! lymphatic malformation

[Term]
id: MONDO:0030317
name: cardiomyopathy, familial hypertrophic, 28
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, familial hypertrophic, 28" EXACT [OMIM:619402]
synonym: "CMH28" EXACT ABBREVIATION [OMIM:619402]
xref: MEDGEN:1779612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619402 {source="MONDO:equivalentTo"}
xref: UMLS:C5543616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779612"}
is_a: MONDO:0024573 {source="OMIM:619402"} ! familial hypertrophic cardiomyopathy

[Term]
id: MONDO:0030318
name: spinocerebellar ataxia, autosomal recessive 30
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCAR30" EXACT ABBREVIATION [OMIM:619405]
synonym: "spinocerebellar ataxia, autosomal recessive 30" EXACT [OMIM:619405]
xref: DOID:0070411 {source="MONDO:equivalentTo"}
xref: MEDGEN:1778853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619405 {source="MONDO:equivalentTo"}
xref: UMLS:C5543620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778853"}
is_a: MONDO:0015244 {source="OMIM:619405"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0030323
name: spinocerebellar ataxia, autosomal recessive 31
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCAR31" EXACT ABBREVIATION [OMIM:619422]
synonym: "spinocerebellar ataxia, autosomal recessive 31" EXACT [OMIM:619422]
xref: DOID:0070412 {source="MONDO:equivalentTo"}
xref: MEDGEN:1786855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619422 {source="MONDO:equivalentTo"}
xref: UMLS:C5543627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786855"}
is_a: MONDO:0015244 {source="OMIM:619422"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0030326
name: mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" EXACT [OMIM:619425]
synonym: "MTDPS16B" EXACT ABBREVIATION [OMIM:619425]
xref: DOID:0070447 {source="MONDO:equivalentTo"}
xref: MEDGEN:1780329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619425 {source="MONDO:equivalentTo"}
xref: UMLS:C5543632 {source="MEDGEN:1780329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018158 {source="OMIM:619425"} ! mitochondrial DNA depletion syndrome

[Term]
id: MONDO:0030329
name: megacystis-microcolon-intestinal hypoperistalsis syndrome 5
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" EXACT [OMIM:619431]
synonym: "MMIHS5" EXACT ABBREVIATION [OMIM:619431]
xref: MEDGEN:1782906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619431 {source="MONDO:equivalentTo"}
xref: UMLS:C5543636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782906"}
is_a: MONDO:0025986 {source="OMIM:619431"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome

[Term]
id: MONDO:0030330
name: cardiomyopathy, familial restrictive, 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, familial restrictive, 6" EXACT [OMIM:619433]
synonym: "RCM6" EXACT ABBREVIATION [OMIM:619433]
xref: MEDGEN:1780781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619433 {source="MONDO:equivalentTo"}
xref: UMLS:C5543638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780781"}
is_a: MONDO:0016340 {source="OMIM:619433"} ! familial restrictive cardiomyopathy

[Term]
id: MONDO:0030331
name: Ritscher-Schinzel syndrome 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Ritscher-Schinzel syndrome 4" EXACT [OMIM:619435]
synonym: "RTSC4" EXACT ABBREVIATION [OMIM:619435]
xref: MEDGEN:1794149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619435 {source="MONDO:equivalentTo"}
xref: UMLS:C5561939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794149"}
is_a: MONDO:0019078 {source="OMIM:619435"} ! Ritscher-Schinzel syndrome

[Term]
id: MONDO:0030332
name: ciliary dyskinesia, primary, 46
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD46" EXACT ABBREVIATION [OMIM:619436]
synonym: "ciliary dyskinesia, primary, 46" EXACT [OMIM:619436]
xref: MEDGEN:1780196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619436 {source="MONDO:equivalentTo"}
xref: UMLS:C5543646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780196"}
is_a: MONDO:0016575 {source="OMIM:619436"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0030333
name: immunodeficiency 84
subset: clingen {source="MONDO:CLINGEN"}
synonym: "IMD84" EXACT ABBREVIATION [OMIM:619437]
synonym: "immunodeficiency 84" EXACT [OMIM:619437]
synonym: "immunodeficiency due to IKZF3 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, PMID:34155405]
xref: MEDGEN:1794150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619437 {source="MONDO:equivalentTo"}
xref: UMLS:C5561940 {source="MEDGEN:1794150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619437"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030334
name: encephalitis, acute, infection (viral)-induced, susceptibility to, 11
synonym: "encephalitis, acute, infection (viral)-induced, susceptibility to, 11" EXACT [OMIM:619441]
synonym: "IIAE11" EXACT ABBREVIATION [OMIM:619441]
xref: MEDGEN:1794151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619441 {source="MONDO:equivalentTo"}
xref: UMLS:C5561941 {source="MEDGEN:1794151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800174 {source="OMIM:619441"} ! encephalitis, acute, infection-induced, susceptibility to
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0030335
name: diarrhea 12, with microvillus atrophy
synonym: "DIAR12" EXACT ABBREVIATION [OMIM:619445]
synonym: "diarrhea 12, with microvillus atrophy" EXACT [OMIM:619445]
synonym: "microvillus inclusion disease 2" EXACT [OMIM:619445]
xref: MEDGEN:1794152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619445 {source="MONDO:equivalentTo"}
xref: UMLS:C5561942 {source="MONDO:equivalentTo", source="MEDGEN:1794152", source="MONDO:MEDGEN"}
is_a: MONDO:0000824 {source="OMIM:619445"} ! congenital diarrhea

[Term]
id: MONDO:0030337
name: cutis laxa, autosomal recessive, type 2E
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCL2E" EXACT ABBREVIATION [OMIM:619451]
synonym: "cutis laxa, autosomal recessive, type 2E" EXACT [OMIM:619451]
synonym: "cutis laxa, autosomal recessive, type IIE" EXACT [OMIM:619451, OMIM:genemap2]
xref: MEDGEN:1794154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619451 {source="MONDO:equivalentTo"}
xref: UMLS:C5561944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794154"}
is_a: MONDO:0100237 {source="OMIM:619451"} ! inherited cutis laxa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030338
name: anencephaly 2
synonym: "anencephaly 2" EXACT [OMIM:619452]
synonym: "ANPH2" EXACT ABBREVIATION [OMIM:619452]
xref: MEDGEN:1794155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619452 {source="MONDO:equivalentTo"}
xref: UMLS:C5561945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794155"}
is_a: MONDO:0000819 {source="OMIM:619452"} ! anencephaly

[Term]
id: MONDO:0030339
name: microcephaly 28, primary, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH28" EXACT ABBREVIATION [OMIM:619453]
synonym: "microcephaly 28, primary, autosomal recessive" EXACT [OMIM:619453]
xref: MEDGEN:1794279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619453 {source="MONDO:equivalentTo"}
xref: UMLS:C5562069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794279"}
is_a: MONDO:0016660 {source="OMIM:619453"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0030341
name: myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS7B" EXACT ABBREVIATION [OMIM:619461]
synonym: "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive" EXACT [OMIM:619461]
xref: MEDGEN:1794157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619461 {source="MONDO:equivalentTo"}
xref: UMLS:C5561947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794157"}
is_a: MONDO:0018940 {source="OMIM:619461"} ! congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0030346
name: ciliary dyskinesia, primary, 47, and lissencephaly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD47" EXACT ABBREVIATION [OMIM:619466]
synonym: "ciliary dyskinesia, primary, 47, and lissencephaly" EXACT [OMIM:619466]
xref: MEDGEN:1794161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619466 {source="MONDO:equivalentTo"}
xref: UMLS:C5561951 {source="MEDGEN:1794161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="OMIM:619466"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0030353
name: Joubert syndrome 38
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JBTS38" EXACT ABBREVIATION [OMIM:619476]
synonym: "Joubert syndrome 38" EXACT [OMIM:619476]
xref: MEDGEN:1794168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619476 {source="MONDO:equivalentTo"}
xref: UMLS:C5561958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794168"}
is_a: MONDO:0018772 {source="OMIM:619476"} ! Joubert syndrome

[Term]
id: MONDO:0030354
name: facioscapulohumeral muscular dystrophy 3, digenic
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "facioscapulohumeral muscular dystrophy 3, digenic" EXACT [OMIM:619477]
synonym: "FSHD3" EXACT ABBREVIATION [OMIM:619477]
xref: DOID:0060917 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619477 {source="MONDO:equivalentTo"}
xref: UMLS:C5561959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794169"}
is_a: MONDO:0001347 {source="OMIM:619477"} ! facioscapulohumeral muscular dystrophy

[Term]
id: MONDO:0030355
name: facioscapulohumeral muscular dystrophy 4, digenic
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "facioscapulohumeral muscular dystrophy 4, digenic" EXACT [OMIM:619478]
synonym: "facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant" EXACT [OMIM:619478, OMIM:genemap2]
synonym: "FSHD4" EXACT ABBREVIATION [OMIM:619478]
xref: DOID:0060918 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619478 {source="MONDO:equivalentTo"}
xref: UMLS:C5561960 {source="MEDGEN:1794170", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001347 {source="OMIM:619478"} ! facioscapulohumeral muscular dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030356
name: short-rib thoracic dysplasia 21 without polydactyly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short-rib thoracic dysplasia 21 without polydactyly" EXACT [OMIM:619479]
synonym: "SRTD21" EXACT ABBREVIATION [OMIM:619479]
xref: MEDGEN:1794171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619479 {source="MONDO:equivalentTo"}
xref: UMLS:C5561961 {source="MEDGEN:1794171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018770 {source="OMIM:619479"} ! Jeune syndrome

[Term]
id: MONDO:0030360
name: cholestasis, progressive familial intrahepatic, 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cholestasis, progressive familial intrahepatic, 6" EXACT [OMIM:619484]
synonym: "PFIC6" EXACT ABBREVIATION [OMIM:619484]
xref: MEDGEN:1794175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619484 {source="MONDO:equivalentTo"}
xref: UMLS:C5561965 {source="MEDGEN:1794175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015762 {source="OMIM:619484"} ! progressive familial intrahepatic cholestasis

[Term]
id: MONDO:0030361
name: Aicardi-Goutieres syndrome 8
def: "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, PMID:33230297]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGS8" EXACT ABBREVIATION [OMIM:619486]
synonym: "Aicardi-Goutieres syndrome 8" EXACT [OMIM:619486]
xref: MEDGEN:1790409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619486 {source="MONDO:equivalentTo"}
xref: UMLS:C5551352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790409"}
is_a: MONDO:0018866 {source="OMIM:619486"} ! Aicardi-Goutieres syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030362
name: Aicardi-Goutieres syndrome 9
def: "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, PMID:33230297]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGS9" EXACT ABBREVIATION [OMIM:619487]
synonym: "Aicardi-Goutieres syndrome 9" EXACT [OMIM:619487]
xref: MEDGEN:1794176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619487 {source="MONDO:equivalentTo"}
xref: UMLS:C5561966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794176"}
is_a: MONDO:0018866 {source="OMIM:619487"} ! Aicardi-Goutieres syndrome
is_a: MONDO:0700263 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! RNU7-1-related type 1 interferonopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0030366
name: cardiomyopathy, dilated, 2E
def: "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13." [DOID:0081161]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 2E" EXACT [OMIM:619492]
synonym: "CMD2E" EXACT ABBREVIATION [OMIM:619492]
xref: DOID:0081161 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619492 {source="MONDO:equivalentTo"}
xref: UMLS:C5561970 {source="MEDGEN:1794180", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="OMIM:619492"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0030374
name: WHIM syndrome 2
synonym: "WHIMS2" EXACT ABBREVIATION [OMIM:619407]
xref: MEDGEN:1785594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619407 {source="MONDO:equivalentTo"}
xref: UMLS:C5543622 {source="MONDO:equivalentTo", source="MEDGEN:1785594", source="MONDO:MEDGEN"}
is_a: MONDO:0023880 {source="OMIM:619407"} ! WHIM syndrome

[Term]
id: MONDO:0030375
name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
synonym: "IMNEPD2" EXACT ABBREVIATION [OMIM:619418]
xref: MEDGEN:1778117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619418 {source="MONDO:equivalentTo"}
xref: UMLS:C5543623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778117"}
is_a: MONDO:0024189 {source="OMIM:619418"} ! neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

[Term]
id: MONDO:0030376
name: Martsolf syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MARTS2" EXACT ABBREVIATION [OMIM:619420]
xref: MEDGEN:1779703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619420 {source="MONDO:equivalentTo"}
xref: UMLS:C5543626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779703"}
is_a: MONDO:0023910 {source="OMIM:619420"} ! Martsolf syndrome

[Term]
id: MONDO:0030378
name: combined oxidative phosphorylation deficiency 53
def: "An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619423]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency due to C2orf69 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "COXPD53" EXACT ABBREVIATION [OMIM:619423]
xref: DOID:0070426 {source="MONDO:equivalentTo"}
xref: MEDGEN:1779083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619423 {source="MONDO:equivalentTo"}
xref: UMLS:C5543631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779083"}
is_a: MONDO:0000732 {source="OMIM:619423"} ! combined oxidative phosphorylation deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030397
name: portal hypertension, noncirrhotic, 2
synonym: "NCPH2" EXACT ABBREVIATION [OMIM:619463]
xref: MEDGEN:1794158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619463 {source="MONDO:equivalentTo"}
xref: UMLS:C5561948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794158"}
is_a: MONDO:0024193 {source="OMIM:619463"} ! portal hypertension, noncirrhotic

[Term]
id: MONDO:0030399
name: visceral neuropathy, familial, 2, autosomal recessive
synonym: "VSCN2" EXACT ABBREVIATION [OMIM:619465]
xref: MEDGEN:1794160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619465 {source="MONDO:equivalentTo"}
xref: UMLS:C5561950 {source="MEDGEN:1794160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0023961 {source="OMIM:619465"} ! visceral neuropathy, familial

[Term]
id: MONDO:0030407
name: obsolete rare disease with Cushing syndrome as a major feature
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0030423
name: congenital disorder of glycosylation, type 2v
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDG2V" EXACT ABBREVIATION [OMIM:619493]
xref: MEDGEN:1794181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619493 {source="MONDO:equivalentTo"}
xref: UMLS:C5561971 {source="MEDGEN:1794181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="OMIM:619493"} ! congenital disorder of glycosylation type II

[Term]
id: MONDO:0030428
name: immunodeficiency 85 and autoimmunity
synonym: "IMD85" EXACT ABBREVIATION [OMIM:619510]
xref: MEDGEN:1794186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619510 {source="MONDO:equivalentTo"}
xref: UMLS:C5561976 {source="MEDGEN:1794186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619510"} ! immunodeficiency disease

[Term]
id: MONDO:0030430
name: spermatogenic failure 56
synonym: "SPGF56" EXACT ABBREVIATION [OMIM:619515]
xref: DOID:0112336 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619515 {source="MONDO:equivalentTo"}
xref: UMLS:C5561978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794188"}
is_a: MONDO:0004983 {source="OMIM:619515"} ! spermatogenic failure

[Term]
id: MONDO:0030433
name: Charcot-Marie-Tooth disease, axonal, type 2FF
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Charcot-Marie-Tooth neuropathy" EXACT [OMIM:619519]
synonym: "CMT2FF" EXACT ABBREVIATION [OMIM:619519]
xref: MEDGEN:1794191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619519 {source="MONDO:equivalentTo"}
xref: UMLS:C5561981 {source="MEDGEN:1794191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="OMIM:619519"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0030434
name: epilepsy, idiopathic generalized, susceptibility to, 18
synonym: "EIG18" EXACT ABBREVIATION [OMIM:619521]
xref: MEDGEN:1794193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619521 {source="MONDO:equivalentTo"}
xref: UMLS:C5561983 {source="MEDGEN:1794193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:619521"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16882 ! HCN4
intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic generalized
relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:619521", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized

[Term]
id: MONDO:0030436
name: anemia, sideroblastic, 5
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SIDBA5" EXACT ABBREVIATION [OMIM:619523]
xref: MEDGEN:1794195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619523 {source="MONDO:equivalentTo"}
xref: UMLS:C5561985 {source="MEDGEN:1794195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020099 {source="OMIM:619523"} ! inherited sideroblastic anemia

[Term]
id: MONDO:0030437
name: congenital disorder of glycosylation, type IIw
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CDG2W" EXACT ABBREVIATION [OMIM:619525]
xref: MEDGEN:1794196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619525 {source="MONDO:equivalentTo"}
xref: UMLS:C5561986 {source="MONDO:equivalentTo", source="MEDGEN:1794196", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="OMIM:619525"} ! congenital disorder of glycosylation type II

[Term]
id: MONDO:0030438
name: pontocerebellar hypoplasia, type 16
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PCH16" EXACT ABBREVIATION [OMIM:619527]
xref: DOID:0112333 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619527 {source="MONDO:equivalentTo"}
xref: UMLS:C5561987 {source="MEDGEN:1794197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020135 {source="OMIM:619527"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0030439
name: spermatogenic failure 57
synonym: "SPGF57" EXACT ABBREVIATION [OMIM:619528]
xref: DOID:0112338 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619528 {source="MONDO:equivalentTo"}
xref: UMLS:C5561988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794198"}
is_a: MONDO:0004983 {source="OMIM:619528"} ! spermatogenic failure

[Term]
id: MONDO:0030440
name: cone-rod dystrophy 22
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CORD22" EXACT ABBREVIATION [OMIM:619531]
xref: DOID:0081448 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619531 {source="MONDO:equivalentTo"}
xref: UMLS:C5561989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794199"}
is_a: MONDO:0015993 {source="OMIM:619531"} ! cone-rod dystrophy

[Term]
id: MONDO:0030448
name: immunodeficiency 86
synonym: "IMD86" EXACT ABBREVIATION [OMIM:619549]
xref: MEDGEN:1794205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619549 {source="MONDO:equivalentTo"}
xref: UMLS:C5561995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794205"}
is_a: MONDO:0021094 {source="OMIM:619549"} ! immunodeficiency disease

[Term]
id: MONDO:0030449
name: hearing loss, autosomal recessive 118, with cochlear aplasia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 118, with cochlear aplasia" NARROW [OMIM:619553]
synonym: "DFNB118" EXACT ABBREVIATION [OMIM:619553]
xref: MEDGEN:1794206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619553 {source="MONDO:equivalentTo"}
xref: UMLS:C5561996 {source="MEDGEN:1794206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="OMIM:619553"} ! hearing loss, autosomal recessive
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0030453
name: developmental and epileptic encephalopathy 97
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE97" EXACT ABBREVIATION [OMIM:619561]
xref: DOID:0070383 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619561 {source="MONDO:equivalentTo"}
xref: UMLS:C5561999 {source="MEDGEN:1794209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:619561"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0030454
name: Joubert syndrome 39
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS39" EXACT ABBREVIATION [OMIM:619562]
xref: MEDGEN:1794210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619562 {source="MONDO:equivalentTo"}
xref: UMLS:C5562000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794210"}
is_a: MONDO:0018772 {source="OMIM:619562"} ! Joubert syndrome

[Term]
id: MONDO:0030455
name: dystonia 31
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DYT31" EXACT ABBREVIATION [OMIM:619565]
xref: DOID:0060938 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619565 {source="MONDO:equivalentTo"}
xref: UMLS:C5562001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794211"}
is_a: MONDO:0044807 {source="OMIM:619565"} ! inherited dystonia

[Term]
id: MONDO:0030456
name: muscular dystrophy, limb-girdle, autosomal recessive 27
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LGMDR27" EXACT ABBREVIATION [OMIM:619566]
xref: MEDGEN:1794212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619566 {source="MONDO:equivalentTo"}
xref: UMLS:C5562002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794212"}
is_a: MONDO:0015152 {source="OMIM:619566"} ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: MONDO:0030457
name: immunodeficiency 87 and autoimmunity
def: "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619573]
synonym: "IMD87" EXACT ABBREVIATION [OMIM:619573]
synonym: "immunodeficiency due to DEF6 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1794280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619573 {source="MONDO:equivalentTo"}
xref: UMLS:C5562070 {source="MEDGEN:1794280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619573"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030458
name: Charcot-Marie-Tooth disease, axonal, Type 2HH
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CMT2HH" EXACT ABBREVIATION [OMIM:619574]
xref: MEDGEN:1794213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619574 {source="MONDO:equivalentTo"}
xref: UMLS:C5562003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794213"}
is_a: MONDO:0015626 {source="OMIM:619574"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0030462
name: Joubert syndrome 40
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS40" EXACT ABBREVIATION [OMIM:619582]
xref: MEDGEN:1794217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619582 {source="MONDO:equivalentTo"}
xref: UMLS:C5562007 {source="MEDGEN:1794217", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="OMIM:619582"} ! Joubert syndrome

[Term]
id: MONDO:0030463
name: spermatogenic failure 58
synonym: "SPGF58" EXACT ABBREVIATION [OMIM:619585]
xref: DOID:0112352 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619585 {source="MONDO:equivalentTo"}
xref: UMLS:C5562008 {source="MEDGEN:1794218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619585"} ! spermatogenic failure

[Term]
id: MONDO:0030465
name: cataract 49
synonym: "CTRCT49" EXACT ABBREVIATION [OMIM:619593]
xref: MEDGEN:1794220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619593 {source="MONDO:equivalentTo"}
xref: UMLS:C5562010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794220"}
is_a: MONDO:0005129 {source="OMIM:619593"} ! cataract

[Term]
id: MONDO:0030471
name: Galloway-Mowat syndrome 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GAMOS9" EXACT ABBREVIATION [OMIM:619603]
xref: MEDGEN:1794226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619603 {source="MONDO:equivalentTo"}
xref: UMLS:C5562016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794226"}
is_a: MONDO:0009627 {source="OMIM:619603"} ! Galloway-Mowat syndrome

[Term]
id: MONDO:0030472
name: developmental and epileptic encephalopathy 98
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE98" EXACT ABBREVIATION [OMIM:619605]
xref: DOID:0070384 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619605 {source="MONDO:equivalentTo"}
xref: UMLS:C5562017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794227"}
is_a: MONDO:0100062 {source="OMIM:619605"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0030473
name: developmental and epileptic encephalopathy 99
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE99" EXACT ABBREVIATION [OMIM:619606]
xref: DOID:0070385 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619606 {source="MONDO:equivalentTo"}
xref: UMLS:C5562018 {source="MEDGEN:1794228", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:619606"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0030474
name: heterotaxy, visceral, 10, autosomal, with male infertility
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HTX10" EXACT ABBREVIATION [OMIM:619607]
xref: MEDGEN:1794282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619607 {source="MONDO:equivalentTo"}
xref: UMLS:C5562072 {source="MEDGEN:1794282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018677 {source="OMIM:619607"} ! visceral heterotaxy

[Term]
id: MONDO:0030475
name: heterotaxy, visceral, 11, autosomal, with male infertility
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HTX11" EXACT ABBREVIATION [OMIM:619608]
xref: MEDGEN:1794229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619608 {source="MONDO:equivalentTo"}
xref: UMLS:C5562019 {source="MEDGEN:1794229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018677 {source="OMIM:619608"} ! visceral heterotaxy

[Term]
id: MONDO:0030476
name: Galloway-Mowat syndrome 10
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GAMOS10" EXACT ABBREVIATION [OMIM:619609]
xref: MEDGEN:1794230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619609 {source="MONDO:equivalentTo"}
xref: UMLS:C5562020 {source="MEDGEN:1794230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009627 {source="OMIM:619609"} ! Galloway-Mowat syndrome

[Term]
id: MONDO:0030480
name: hearing loss, autosomal recessive 119
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 119" NARROW [OMIM:619615]
synonym: "DFNB119" EXACT ABBREVIATION [OMIM:619615]
xref: MEDGEN:1794233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619615 {source="MONDO:equivalentTo"}
xref: UMLS:C5562023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794233"}
is_a: MONDO:0019588 {source="OMIM:619615"} ! hearing loss, autosomal recessive
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0030482
name: spastic paraplegia 84, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631079"}
subset: orphanet_rare {source="Orphanet:631079"}
subset: rare
synonym: "autosomal recessive spastic paraplegia type 84" EXACT [MONDO:0858989]
synonym: "SPG84" EXACT ABBREVIATION [OMIM:619621]
xref: DOID:0112347 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619621 {source="MONDO:equivalentTo"}
xref: Orphanet:631079 {source="MONDO:equivalentTo"}
xref: UMLS:C5562025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794235"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="OMIM:619621", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
is_a: MONDO:1040012 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! PI4KA-related disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0030483
name: immunodeficiency 88
def: "An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "IMD88" EXACT ABBREVIATION [OMIM:619630]
synonym: "Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1794236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619630 {source="MONDO:equivalentTo"}
xref: UMLS:C5562026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794236"}
is_a: MONDO:0021094 {source="OMIM:619630"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030484
name: immunodeficiency 89 and autoimmunity
synonym: "IMD89" EXACT ABBREVIATION [OMIM:619632]
xref: MEDGEN:1794237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619632 {source="MONDO:equivalentTo"}
xref: UMLS:C5562027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794237"}
is_a: MONDO:0021094 {source="OMIM:619632"} ! immunodeficiency disease

[Term]
id: MONDO:0030486
name: dystonia 32
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DYT32" EXACT ABBREVIATION [OMIM:619637]
xref: DOID:0060939 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619637 {source="MONDO:equivalentTo"}
xref: UMLS:C5562029 {source="MEDGEN:1794239", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044807 {source="OMIM:619637"} ! inherited dystonia

[Term]
id: MONDO:0030487
name: spondylometaphyseal dysplasia, pagnamenta type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SMDP" EXACT ABBREVIATION [OMIM:619638]
xref: MEDGEN:1794240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619638 {source="MONDO:equivalentTo"}
xref: UMLS:C5562030 {source="MONDO:equivalentTo", source="MEDGEN:1794240", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="OMIM:619638"} ! spondylometaphyseal dysplasia

[Term]
id: MONDO:0030489
name: epidermolysis bullosa simplex 2A, generalized severe
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EBS2A" EXACT ABBREVIATION [OMIM:619555]
xref: OMIM:619555 {source="MONDO:equivalentTo"}
is_a: MONDO:0017610 {source="OMIM:619555"} ! epidermolysis bullosa simplex

[Term]
id: MONDO:0030490
name: oocyte maturation defect 11
synonym: "OOMD11" EXACT ABBREVIATION [OMIM:619643]
xref: MEDGEN:1794243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619643 {source="MONDO:equivalentTo"}
xref: UMLS:C5562033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794243"}
is_a: MONDO:0014769 {source="OMIM:619643"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0030491
name: immunodeficiency 91 and hyperinflammation
def: "An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease." [PMID:33872655]
synonym: "IMD91" EXACT ABBREVIATION [OMIM:619644]
synonym: "immunodeficiency, autosomal recessive, due to ZNFX1 deficiency:" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, PMID:33872655]
xref: MEDGEN:1794283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619644 {source="MONDO:equivalentTo"}
xref: UMLS:C5562073 {source="MEDGEN:1794283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619644", source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030492
name: spermatogenic failure 59
synonym: "SPGF59" EXACT ABBREVIATION [OMIM:619645]
xref: DOID:0112357 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619645 {source="MONDO:equivalentTo"}
xref: UMLS:C5562034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794244"}
is_a: MONDO:0004983 {source="OMIM:619645"} ! spermatogenic failure

[Term]
id: MONDO:0030493
name: spermatogenic failure 60
synonym: "SPGF60" EXACT ABBREVIATION [OMIM:619646]
xref: DOID:0112355 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619646 {source="MONDO:equivalentTo"}
xref: UMLS:C5562035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794245"}
is_a: MONDO:0004983 {source="OMIM:619646"} ! spermatogenic failure

[Term]
id: MONDO:0030498
name: immunodeficiency 92
def: "An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619652]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "IMD92" EXACT ABBREVIATION [OMIM:619652]
synonym: "immunodeficiency due to REL deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1794249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619652 {source="MONDO:equivalentTo"}
xref: UMLS:C5562039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794249"}
is_a: MONDO:0021094 {source="OMIM:619652"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030500
name: Loeys-Dietz syndrome 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LDS6" EXACT ABBREVIATION [OMIM:619656]
xref: DOID:0060964 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619656 {source="MONDO:equivalentTo"}
xref: UMLS:C5562041 {source="MONDO:equivalentTo", source="MEDGEN:1794251", source="MONDO:MEDGEN"}
is_a: MONDO:0018954 {source="OMIM:619656"} ! Loeys-Dietz syndrome

[Term]
id: MONDO:0030502
name: tetrasomy
def: "A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number." [https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:90710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058670 {source="MONDO:equivalentTo"}
xref: NCIT:C36601 {source="MONDO:relatedTo"}
xref: UMLS:C0333689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90710"}
is_a: MONDO:0019040 ! chromosomal disorder
is_a: MONDO:0700064 {source="https://orcid.org/0000-0002-4142-7153"} ! aneuploidy
relationship: has_characteristic SO:0000055 {source="https://orcid.org/0000-0002-4142-7153"} ! hyperploid

[Term]
id: MONDO:0030503
name: cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PFIC7" EXACT ABBREVIATION [OMIM:619658]
xref: MEDGEN:1794253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619658 {source="MONDO:equivalentTo"}
xref: UMLS:C5562043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794253"}
is_a: MONDO:0015762 {source="OMIM:619658"} ! progressive familial intrahepatic cholestasis

[Term]
id: MONDO:0030505
name: cholestasis, progressive familial intrahepatic, 8
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PFIC8" EXACT ABBREVIATION [OMIM:619662]
xref: MEDGEN:1794255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619662 {source="MONDO:equivalentTo"}
xref: UMLS:C5562045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794255"}
is_a: MONDO:0015762 {source="OMIM:619662"} ! progressive familial intrahepatic cholestasis

[Term]
id: MONDO:0030506
name: ovarian dysgenesis 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ODG9" EXACT ABBREVIATION [OMIM:619665]
xref: MEDGEN:1794256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619665 {source="MONDO:equivalentTo"}
xref: UMLS:C5562046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794256"}
is_a: MONDO:0009299 {source="OMIM:619665"} ! 46 XX gonadal dysgenesis

[Term]
id: MONDO:0030507
name: spermatogenic failure 61
synonym: "SPGF61" EXACT ABBREVIATION [OMIM:619672]
xref: DOID:0112350 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619672 {source="MONDO:equivalentTo"}
xref: UMLS:C5562048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794258"}
is_a: MONDO:0004983 {source="OMIM:619672"} ! spermatogenic failure

[Term]
id: MONDO:0030508
name: spermatogenic failure 62
synonym: "SPGF62" EXACT ABBREVIATION [OMIM:619673]
xref: DOID:0112351 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619673 {source="MONDO:equivalentTo"}
xref: UMLS:C5562049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794259"}
is_a: MONDO:0004983 {source="OMIM:619673"} ! spermatogenic failure

[Term]
id: MONDO:0030512
name: spastic paraplegia 85, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631082"}
subset: orphanet_rare {source="Orphanet:631082"}
subset: rare
synonym: "autosomal recessive spastic paraplegia type 85" EXACT [MONDO:0858990]
synonym: "SPG85" EXACT ABBREVIATION [OMIM:619686]
xref: DOID:0112345 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619686 {source="MONDO:equivalentTo"}
xref: Orphanet:631082 {source="MONDO:equivalentTo"}
xref: UMLS:C5562053 {source="MEDGEN:1794263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="OMIM:619686", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0030513
name: dystonia 33
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DYT33" EXACT ABBREVIATION [OMIM:619687]
xref: DOID:0060940 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619687 {source="MONDO:equivalentTo"}
xref: UMLS:C5562054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794264"}
is_a: MONDO:0044807 {source="OMIM:619687"} ! inherited dystonia

[Term]
id: MONDO:0030514
name: leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD23" EXACT ABBREVIATION [OMIM:619688]
xref: DOID:0070397 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619688 {source="MONDO:equivalentTo"}
xref: UMLS:C5562074 {source="MONDO:equivalentTo", source="MEDGEN:1794284", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="OMIM:619688"} ! leukodystrophy

[Term]
id: MONDO:0030515
name: spermatogenic failure 63
synonym: "SPGF63" EXACT ABBREVIATION [OMIM:619689]
xref: DOID:0112356 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619689 {source="MONDO:equivalentTo"}
xref: UMLS:C5562055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794265"}
is_a: MONDO:0004983 {source="OMIM:619689"} ! spermatogenic failure

[Term]
id: MONDO:0030517
name: trichothiodystrophy 8, nonphotosensitive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TTD8" EXACT ABBREVIATION [OMIM:619691]
xref: MEDGEN:1794267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619691 {source="MONDO:equivalentTo"}
xref: UMLS:C5562057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794267"}
is_a: MONDO:0018053 {source="OMIM:619691"} ! trichothiodystrophy

[Term]
id: MONDO:0030518
name: trichothiodystrophy 9, nonphotosensitive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TTD9" EXACT ABBREVIATION [OMIM:619692]
xref: MEDGEN:1794268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619692 {source="MONDO:equivalentTo"}
xref: UMLS:C5562058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794268"}
is_a: MONDO:0018053 {source="OMIM:619692"} ! trichothiodystrophy

[Term]
id: MONDO:0030519
name: agammaglobulinemia 9, autosomal recessive
def: "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619693]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGM9" EXACT ABBREVIATION [OMIM:619693]
xref: DOID:0081141 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619693 {source="MONDO:equivalentTo"}
xref: UMLS:C5562059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794269"}
is_a: MONDO:0015977 {source="OMIM:619693"} ! agammaglobulinemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030522
name: spermatogenic failure 64
synonym: "SPGF64" EXACT ABBREVIATION [OMIM:619696]
xref: DOID:0112353 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619696 {source="MONDO:equivalentTo"}
xref: UMLS:C5562062 {source="MEDGEN:1794272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619696"} ! spermatogenic failure

[Term]
id: MONDO:0030523
name: oocyte maturation defect 12
synonym: "OOMD12" EXACT ABBREVIATION [OMIM:619697]
xref: MEDGEN:1794273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619697 {source="MONDO:equivalentTo"}
xref: UMLS:C5562063 {source="MONDO:equivalentTo", source="MEDGEN:1794273", source="MONDO:MEDGEN"}
is_a: MONDO:0014769 {source="OMIM:619697"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0030524
name: mucopolysaccharidosis, type 10
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MPS10" EXACT ABBREVIATION [OMIM:619698]
xref: MEDGEN:1794274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619698 {source="MONDO:equivalentTo"}
xref: UMLS:C5562064 {source="MEDGEN:1794274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019249 {source="OMIM:619698"} ! mucopolysaccharidosis

[Term]
id: MONDO:0030525
name: epidermolysis bullosa simplex 2B, generalized intermediate
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EBS2B" EXACT ABBREVIATION [OMIM:619588]
xref: MEDGEN:1794219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619588 {source="MONDO:equivalentTo"}
xref: UMLS:C5562009 {source="MEDGEN:1794219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017610 {source="OMIM:619588"} ! epidermolysis bullosa simplex

[Term]
id: MONDO:0030527
name: epidermolysis bullosa simplex 2C, localized
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EBS2C" EXACT ABBREVIATION [OMIM:619594]
xref: MEDGEN:1794221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619594 {source="MONDO:equivalentTo"}
xref: UMLS:C5562011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794221"}
is_a: MONDO:0017610 {source="OMIM:619594"} ! epidermolysis bullosa simplex

[Term]
id: MONDO:0030528
name: immunodeficiency 93 and hypertrophic cardiomyopathy
def: "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619705]
synonym: "IMD93" EXACT ABBREVIATION [OMIM:619705]
synonym: "immunodeficiency and hypertrophic cardiomyopathy" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1804175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619705 {source="MONDO:equivalentTo"}
xref: UMLS:C5676899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804175"}
is_a: MONDO:0021094 {source="OMIM:619705"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030529
name: agammaglobulinemia 10, autosomal dominant
def: "An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619707]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AGM10" EXACT ABBREVIATION [OMIM:619707]
xref: DOID:0081142 {source="MONDO:equivalentTo"}
xref: MEDGEN:1806624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619707 {source="MONDO:equivalentTo"}
xref: UMLS:C5676900 {source="MEDGEN:1806624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015977 {source="OMIM:619707"} ! agammaglobulinemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030531
name: spermatogenic failure 65
synonym: "SPGF65" EXACT ABBREVIATION [OMIM:619712]
xref: DOID:0112354 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619712 {source="MONDO:equivalentTo"}
xref: UMLS:C5562067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794277"}
is_a: MONDO:0004983 {source="OMIM:619712"} ! spermatogenic failure

[Term]
id: MONDO:0030533
name: intellectual developmental disorder, autosomal recessive 73
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MRT73" EXACT ABBREVIATION [OMIM:619717]
xref: DOID:0081233 {source="MONDO:equivalentTo"}
xref: MEDGEN:1802013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619717 {source="MONDO:equivalentTo"}
xref: UMLS:C5676902 {source="MEDGEN:1802013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="OMIM:619717"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0030534
name: hypogonadotropic hypogonadism 26 with or without anosmia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HH26" EXACT ABBREVIATION [OMIM:619718]
xref: MEDGEN:1811919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619718 {source="MONDO:equivalentTo"}
xref: UMLS:C5676903 {source="MEDGEN:1811919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="OMIM:619718"} ! hypogonadotropic hypogonadism

[Term]
id: MONDO:0030535
name: epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EBS2D" EXACT ABBREVIATION [OMIM:619599]
xref: MEDGEN:1794224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619599 {source="MONDO:equivalentTo"}
xref: UMLS:C5562014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794224"}
is_a: MONDO:0017610 {source="OMIM:619599"} ! epidermolysis bullosa simplex

[Term]
id: MONDO:0030537
name: central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
synonym: "CCHS2" EXACT ABBREVIATION [OMIM:619482]
synonym: "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" EXACT [OMIM:619482]
xref: MEDGEN:1794173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619482 {source="MONDO:equivalentTo"}
xref: UMLS:C5561963 {source="MEDGEN:1794173", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800031 {source="OMIM:619482"} ! central hypoventilation syndrome, congenital

[Term]
id: MONDO:0030538
name: dystonia 34, myoclonic
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DYT34" EXACT ABBREVIATION [OMIM:619724]
xref: DOID:0060957 {source="MONDO:equivalentTo"}
xref: MEDGEN:1805016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619724 {source="MONDO:equivalentTo"}
xref: UMLS:C5676907 {source="MEDGEN:1805016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044807 {source="OMIM:619724"} ! inherited dystonia

[Term]
id: MONDO:0030539
name: central hypoventilation syndrome, congenital, 3
synonym: "CCHS3" EXACT ABBREVIATION [OMIM:619483]
synonym: "central hypoventilation syndrome, congenital, 3" EXACT [OMIM:619483]
xref: MEDGEN:1794174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619483 {source="MONDO:equivalentTo"}
xref: UMLS:C5561964 {source="MONDO:equivalentTo", source="MEDGEN:1794174", source="MONDO:MEDGEN"}
is_a: MONDO:0800031 {source="OMIM:619483"} ! central hypoventilation syndrome, congenital

[Term]
id: MONDO:0030543
name: combined oxidative phosphorylation deficiency 54
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "COXPD54" EXACT ABBREVIATION [OMIM:619737]
xref: DOID:0070427 {source="MONDO:equivalentTo"}
xref: MEDGEN:1812715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619737 {source="MONDO:equivalentTo"}
xref: UMLS:C5676912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812715"}
is_a: MONDO:0000732 {source="OMIM:619737"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0030549
name: hearing loss, autosomal dominant 81
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal dominant 81" NARROW [OMIM:619500]
synonym: "DFNA81" EXACT ABBREVIATION [OMIM:619500]
synonym: "hearing loss, autosomal dominant 81" EXACT ABBREVIATION [OMIM:619500]
xref: MEDGEN:1794182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619500 {source="MONDO:equivalentTo"}
xref: UMLS:C5561972 {source="MEDGEN:1794182", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="OMIM:619500"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0030553
name: acromesomelic dysplasia 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AMD4" EXACT ABBREVIATION [OMIM:619636]
xref: DOID:0081238 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619636 {source="MONDO:equivalentTo"}
xref: UMLS:C5562028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794238"}
is_a: MONDO:0019696 {source="OMIM:619636"} ! acromesomelic dysplasia

[Term]
id: MONDO:0030602
name: Klebsiella pneumonia
def: "An pneumonia caused by infection with Klebsiella." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Klebsiella caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "pneumonia caused by Klebsiella pneumoniae" RELATED []
synonym: "pneumonia due to Klebsiella pneumoniae" EXACT [ICD9CM:482.0]
synonym: "pneumonia due to Klebsiella pneumoniae (disorder)" EXACT []
xref: DOID:13272 {source="MONDO:equivalentTo"}
xref: ICD10CM:J15.0 {source="MONDO:equivalentTo", source="DOID:13272"}
xref: ICD9:482.0 {source="MONDO:equivalentTo", source="DOID:13272", source="MONDO:i2s"}
xref: MEDGEN:636012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007710 {source="MONDO:relatedTo", source="DOID:13272"}
xref: SCTID:64479007 {source="MONDO:equivalentTo"}
xref: UMLS:C0519030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:636012"}
is_a: MONDO:0004652 {source="DOID:13272", source="MONDO:Redundant"} ! bacterial pneumonia
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:570 ! Klebsiella

[Term]
id: MONDO:0030603
name: Klebsiella infectious disease
def: "Infections with bacteria of the genus KLEBSIELLA." [MESH:D007710]
synonym: "infection, Klebsiella" RELATED [MESH:D007710]
synonym: "infections, Klebsiella" RELATED [MESH:D007710]
synonym: "Klebsiella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Klebsiella disease or disorder" EXACT []
synonym: "Klebsiella infection" RELATED [MESH:D007710]
xref: MESH:D007710 {source="MONDO:equivalentTo"}
xref: SCTID:721756002 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:570 ! Klebsiella

[Term]
id: MONDO:0030604
name: cystic partially differentiated nephroblastoma
def: "A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative." [NCIT:C6897]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cystic partially differentiated nephroblastoma" EXACT [NCIT:C6897]
synonym: "malignant cystic nephroma" EXACT [NCIT:C6897]
synonym: "malignant multilocular cystic nephroma" EXACT [NCIT:C6897]
xref: DOID:7571 {source="MONDO:equivalentTo"}
xref: ICDO:8959/1 {source="NCIT:C6897"}
xref: ICDO:8959/3 {source="NCIT:C6897"}
xref: MEDGEN:220423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6897 {source="MONDO:equivalentTo"}
xref: UMLS:C1266139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220423"}
is_a: MONDO:0004356 {source="NCIT:C6897"} ! childhood multilocular cystic kidney neoplasm
is_a: MONDO:0024676 {source="NCIT:C6897"} ! childhood kidney Wilms tumor
relationship: excluded_subClassOf MONDO:0002367 {source="DOID:7571", source="https://orcid.org/0000-0001-5208-3432"} ! kidney cancer
relationship: has_characteristic PATO:0001673 ! cystic

[Term]
id: MONDO:0030606
name: Bryant-Li-Bhoj neurodevelopmental syndrome 1
synonym: "BRYLIB1" EXACT ABBREVIATION [OMIM:619720]
xref: MEDGEN:1801103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619720 {source="MONDO:equivalentTo"}
xref: UMLS:C5676905 {source="MEDGEN:1801103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031200 {source="OMIM:619720"} ! Bryant-Li-Bhoj neurodevelopmental syndrome

[Term]
id: MONDO:0030607
name: Bryant-Li-Bhoj neurodevelopmental syndrome 2
synonym: "BRYLIB2" EXACT ABBREVIATION [OMIM:619721]
xref: MEDGEN:1811435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619721 {source="MONDO:equivalentTo"}
xref: UMLS:C5676906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811435"}
is_a: MONDO:0031200 {source="OMIM:619721"} ! Bryant-Li-Bhoj neurodevelopmental syndrome

[Term]
id: MONDO:0030608
name: interstitial lung disease 1
synonym: "ILD1" EXACT ABBREVIATION [OMIM:619611]
synonym: "interstitial lung disease 1" EXACT [OMIM:619611]
xref: DOID:0060941 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619611 {source="MONDO:equivalentTo"}
xref: UMLS:C5562021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794231"}
is_a: MONDO:0031199 {source="OMIM:619611"} ! inherited interstitial lung disease

[Term]
id: MONDO:0030619
name: retinitis pigmentosa 92
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 92" EXACT [OMIM:619614]
synonym: "RP92" EXACT ABBREVIATION [OMIM:619614]
xref: MEDGEN:1794232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619614 {source="MONDO:equivalentTo"}
xref: UMLS:C5562022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794232"}
is_a: MONDO:0019200 {source="OMIM:619614"} ! retinitis pigmentosa
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0030625
name: dyskinesia with orofacial involvement, autosomal recessive
synonym: "DSKOR" EXACT ABBREVIATION [OMIM:619647]
synonym: "dyskinesia with orofacial involvement, autosomal recessive" EXACT [OMIM:619647]
xref: MEDGEN:1794246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619647 {source="MONDO:equivalentTo"}
xref: UMLS:C5562036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794246"}
is_a: MONDO:0031115 {source="OMIM:619647"} ! dyskinesia with orofacial involvement

[Term]
id: MONDO:0030634
name: leukoencephalopathy, hereditary diffuse, with spheroids 2
synonym: "HDLS2" EXACT ABBREVIATION [OMIM:619661]
synonym: "leukoencephalopathy, hereditary diffuse, with spheroids 2" EXACT [OMIM:619661]
synonym: "leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA" EXACT [OMIM:619661]
xref: MEDGEN:1794254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619661 {source="MONDO:equivalentTo"}
xref: UMLS:C5562044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794254"}
is_a: MONDO:0030796 {source="OMIM:619661"} ! leukoencephalopathy, hereditary diffuse, with spheroids

[Term]
id: MONDO:0030639
name: Teebi hypertelorism syndrome
xref: DOID:0081073 {source="MONDO:equivalentTo"}
xref: MEDGEN:208673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:145420 {source="MONDO:equivalentTo"}
xref: UMLS:C0796179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208673"}
is_a: MONDO:0003847 {source="OMIMPS:145420"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145420"} ! inherited

[Term]
id: MONDO:0030669
name: gastrointestinal defects and immunodeficiency syndrome 2
def: "A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency." [OMIM:619708]
synonym: "gastrointestinal defects and immunodeficiency syndrome 2" EXACT [OMIM:619708]
synonym: "GIDID2" EXACT ABBREVIATION [OMIM:619708]
synonym: "multiple intestinal atresia with or without leukopenia" EXACT [OMIM:619708]
xref: MEDGEN:1811526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619708 {source="MONDO:equivalentTo"}
xref: UMLS:C5676901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811526"}
is_a: MONDO:0030831 {source="OMIM:619708"} ! gastrointestinal defect and immunodeficiency syndrome
is_a: MONDO:1040012 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! PI4KA-related disorder

[Term]
id: MONDO:0030673
name: spastic paraplegia 86, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631085"}
subset: orphanet_rare {source="Orphanet:631085"}
subset: rare
synonym: "autosomal recessive spastic paraplegia type 86" EXACT [MONDO:0858991]
synonym: "spastic paraplegia 86, autosomal recessive" EXACT [OMIM:619735]
synonym: "SPG86" EXACT ABBREVIATION [OMIM:619735]
xref: DOID:0112342 {source="MONDO:equivalentTo"}
xref: MEDGEN:1801286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619735 {source="MONDO:equivalentTo"}
xref: Orphanet:631085 {source="MONDO:equivalentTo"}
xref: UMLS:C5676910 {source="MEDGEN:1801286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia
is_a: MONDO:0019064 {source="OMIM:619735", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0030674
name: Teebi hypertelorism syndrome 2
synonym: "TBHS2" EXACT ABBREVIATION [OMIM:619736]
synonym: "Teebi hypertelorism syndrome 2" EXACT [OMIM:619736]
xref: DOID:0081074 {source="MONDO:equivalentTo"}
xref: MEDGEN:1809276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619736 {source="MONDO:equivalentTo"}
xref: UMLS:C5676911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809276"}
is_a: MONDO:0030639 {source="OMIM:619736"} ! Teebi hypertelorism syndrome

[Term]
id: MONDO:0030676
name: parkinsonism-dystonia 3, childhood-onset
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "parkinsonism-dystonia 3, childhood-onset" EXACT [OMIM:619738]
synonym: "PKDYS3" EXACT ABBREVIATION [OMIM:619738]
xref: MEDGEN:1808365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619738 {source="MONDO:equivalentTo"}
xref: UMLS:C5676913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808365"}
is_a: MONDO:0013150 {source="OMIM:619738"} ! parkinsonism-dystonia, infantile

[Term]
id: MONDO:0030677
name: Charcot-Marie-Tooth disease, demyelinating, IIA 1I
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Charcot-Marie-Tooth disease neuropathy, IIA 1I" EXACT [OMIM:619742]
synonym: "Charcot-Marie-Tooth disease, demyelinating, IIA 1I" EXACT [OMIM:619742]
synonym: "CMT1I" EXACT ABBREVIATION [OMIM:619742]
xref: MEDGEN:1811493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619742 {source="MONDO:equivalentTo"}
xref: UMLS:C5676914 {source="MEDGEN:1811493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="OMIM:619742"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0030679
name: Noonan syndrome 14
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Noonan syndrome 14" EXACT [OMIM:619745]
synonym: "NS14" EXACT ABBREVIATION [OMIM:619745]
xref: MEDGEN:1807988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619745 {source="MONDO:equivalentTo"}
xref: UMLS:C5676916 {source="MEDGEN:1807988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018997 {source="OMIM:619745"} ! Noonan syndrome

[Term]
id: MONDO:0030680
name: cardiomyopathy, dilated, 2F
def: "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32." [DOID:0081162]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 2F" EXACT [OMIM:619747]
synonym: "CMD2F" EXACT ABBREVIATION [OMIM:619747]
xref: DOID:0081162 {source="MONDO:equivalentTo"}
xref: MEDGEN:1802616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619747 {source="MONDO:equivalentTo"}
xref: UMLS:C5676917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802616"}
is_a: MONDO:0016333 {source="OMIM:619747"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0030681
name: immunodeficiency 94 with autoinflammation and dysmorphic facies
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IMD94" EXACT ABBREVIATION [OMIM:619750]
synonym: "immunodeficiency 94 with autoinflammation and dysmorphic facies" EXACT [OMIM:619750]
xref: MEDGEN:1802872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619750 {source="MONDO:equivalentTo"}
xref: UMLS:C5676918 {source="MEDGEN:1802872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018037 {source="OMIM:619750"} ! hyper-IgE syndrome
is_a: MONDO:0021094 {source="OMIM:619750"} ! immunodeficiency disease

[Term]
id: MONDO:0030684
name: hypogonadotropic hypogonadism 27 without anosmia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HH27" EXACT ABBREVIATION [OMIM:619755]
synonym: "hypogonadotropic hypogonadism 27 without anosmia" EXACT [OMIM:619755]
xref: MEDGEN:1810165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619755 {source="MONDO:equivalentTo"}
xref: UMLS:C5676921 {source="MEDGEN:1810165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018555 {source="OMIM:619755"} ! hypogonadotropic hypogonadism

[Term]
id: MONDO:0030689
name: Charcot-Marie-Tooth disease, demyelinating, IIA 1H
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Charcot-Marie-Tooth disease, demyelinating, IIA 1H" EXACT [OMIM:619764]
synonym: "Charcot-Marie-Tooth neuropathy, IIA 1H" EXACT [OMIM:619764]
synonym: "CMT1H" EXACT ABBREVIATION [OMIM:619764]
synonym: "hereditary motor and sensory neuropathy, 1h" EXACT [OMIM:619764]
synonym: "neuropathy, hereditary, with or without age-related macular degeneration" EXACT [OMIM:619764]
xref: MEDGEN:1804752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619764 {source="MONDO:equivalentTo"}
xref: UMLS:C5676926 {source="MEDGEN:1804752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="OMIM:619764"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0030690
name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PFBMFT6" EXACT ABBREVIATION [OMIM:619767]
synonym: "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6" EXACT [OMIM:619767]
xref: MEDGEN:1805650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619767 {source="MONDO:equivalentTo"}
xref: UMLS:C5676927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805650"}
is_a: MONDO:0000148 {source="OMIM:619767"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related

[Term]
id: MONDO:0030692
name: immunodeficiency 95
synonym: "IMD95" EXACT ABBREVIATION [OMIM:619773]
synonym: "immunodeficiency 95" EXACT [OMIM:619773]
xref: MEDGEN:1802205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619773 {source="MONDO:equivalentTo"}
xref: UMLS:C5676929 {source="MEDGEN:1802205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619773"} ! immunodeficiency disease

[Term]
id: MONDO:0030693
name: immunodeficiency 96
def: "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619774]
subset: otar {source="MONDO:OTAR"}
synonym: "IMD96" EXACT ABBREVIATION [OMIM:619774]
synonym: "immunodeficiency 96" EXACT [OMIM:619774]
synonym: "immunodeficiency, autosomal recessive due to LIG1 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1810465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619774 {source="MONDO:equivalentTo"}
xref: UMLS:C5676930 {source="MONDO:equivalentTo", source="MEDGEN:1810465", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619774"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030695
name: developmental and epileptic encephalopathy 100
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE100" EXACT ABBREVIATION [OMIM:619777]
synonym: "developmental and epileptic encephalopathy 100" EXACT [OMIM:619777]
xref: DOID:0070386 {source="MONDO:equivalentTo"}
xref: MEDGEN:1809351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619777 {source="MONDO:equivalentTo"}
xref: UMLS:C5676932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809351"}
is_a: MONDO:0100062 {source="OMIM:619777"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0030696
name: mitochondrial DNA depletion syndrome 20 (mngie type)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mitochondrial DNA depletion syndrome 20 (mngie type)" EXACT [OMIM:619780]
synonym: "mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related" EXACT [OMIM:619780]
synonym: "MTDPS20" EXACT ABBREVIATION [OMIM:619780]
xref: DOID:0070451 {source="MONDO:equivalentTo"}
xref: MEDGEN:1804209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619780 {source="MONDO:equivalentTo"}
xref: UMLS:C5676934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804209"}
is_a: MONDO:0018158 {source="OMIM:619780"} ! mitochondrial DNA depletion syndrome

[Term]
id: MONDO:0030697
name: myopia 28, autosomal recessive
synonym: "myopia 28, autosomal recessive" EXACT [OMIM:619781]
synonym: "MYP28" EXACT ABBREVIATION [OMIM:619781]
xref: MEDGEN:1806812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619781 {source="MONDO:equivalentTo"}
xref: UMLS:C5676935 {source="MEDGEN:1806812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="OMIM:619781"} ! myopia

[Term]
id: MONDO:0030700
name: autoimmune glomerulonephritis
def: "An autoimmune form of glomerulonephritis (disease)." [MONDO:patterns/autoimmune]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "autoimmune glomerulonephritis (disease)" EXACT []
xref: DOID:0040094 {source="MONDO:equivalentTo"}
xref: MEDGEN:480533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3278903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:480533"}
intersection_of: MONDO:0002462 ! glomerulonephritis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0030701
name: autoimmune cardiomyopathy
def: "An autoimmune form of cardiomyopathy." [MONDO:patterns/autoimmune]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0040095 {source="MONDO:equivalentTo"}
is_a: MONDO:0000603 {source="DOID:0040095", source="MONDO:Redundant"} ! autoimmune disorder of cardiovascular system
is_a: MONDO:0005267 {source="DOID:0040095", source="MONDO:indirect"} ! heart disorder
intersection_of: MONDO:0004994 ! cardiomyopathy
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0030702
name: autoimmune atherosclerosis
def: "An autoimmune form of atherosclerosis." [MONDO:patterns/autoimmune]
xref: DOID:0040096 {source="MONDO:equivalentTo"}
is_a: MONDO:0000603 {source="DOID:0040096", source="MONDO:Redundant"} ! autoimmune disorder of cardiovascular system
intersection_of: MONDO:0005311 ! atherosclerosis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0030703
name: autoimmune vasculitis
def: "An autoimmune form of vasculitis." [MONDO:patterns/autoimmune]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0040097 {source="MONDO:equivalentTo"}
xref: MEDGEN:730236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:2662170019 {source="DOID:0040097"}
xref: SCTID:427213005 {source="MONDO:equivalentTo"}
xref: UMLS:C1328843 {source="MONDO:equivalentTo", source="MEDGEN:730236", source="MONDO:MEDGEN"}
is_a: MONDO:0000603 {source="DOID:0040097", source="MONDO:Redundant"} ! autoimmune disorder of cardiovascular system
intersection_of: MONDO:0018882 ! vasculitis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0030705
name: Trichomonas prostatitis
def: "Infection of the prostate gland caused by Trichomonas vaginalis." [NCIT:C35176]
synonym: "trichomonal prostatitis" EXACT []
synonym: "Trichomonas prostatitis" EXACT [NCIT:C35176]
synonym: "Trichomonas vaginalis caused prostatitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis prostatitis (disease)" EXACT []
xref: ICD9:131.03 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:102261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35176 {source="MONDO:equivalentTo"}
xref: SCTID:71590000 {source="MONDO:equivalentTo"}
xref: UMLS:C0153315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102261"}
is_a: MONDO:0002154 {source="NCIT:C35176"} ! trichomoniasis
is_a: MONDO:0005280 {source="MONDO:Redundant", source="NCIT:C35176"} ! prostatitis
intersection_of: MONDO:0005280 ! prostatitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5722 ! Trichomonas vaginalis

[Term]
id: MONDO:0030706
name: Trichomonas cystitis
def: "An cystitis caused by infection with Trichomonas vaginalis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "cystitis in trichomoniasis" RELATED []
synonym: "trichomonal cystitis" EXACT []
synonym: "Trichomonas cystitis" EXACT [NCIT:C35405]
synonym: "Trichomonas vaginalis caused cystitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis cystitis" EXACT []
xref: ICD9:131.09 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:87425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35405 {source="MONDO:equivalentTo"}
xref: SCTID:197850006 {source="MONDO:equivalentTo"}
xref: UMLS:C0341733 {source="MEDGEN:87425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002154 {source="NCIT:C35405"} ! trichomoniasis
is_a: MONDO:0005993 ! Trichomonas vaginitis urogenital infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0006032 ! cystitis
intersection_of: disease_has_infectious_agent NCBITaxon:5722 ! Trichomonas vaginalis

[Term]
id: MONDO:0030707
name: Trichomonas balanoposthitis
synonym: "Trichomonas balanoposthitis" EXACT [NCIT:C35406]
xref: MEDGEN:83327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35406 {source="MONDO:equivalentTo"}
xref: UMLS:C0341769 {source="MONDO:equivalentTo", source="MEDGEN:83327", source="MONDO:MEDGEN"}
is_a: MONDO:0002154 {source="NCIT:C35406"} ! trichomoniasis
intersection_of: MONDO:0001618 ! balanoposthitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5722 ! Trichomonas vaginalis

[Term]
id: MONDO:0030708
name: Trichomonas cervicitis
def: "An cervicitis (disease) caused by infection with Trichomonas vaginalis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas cervicitis" EXACT [NCIT:C35588]
synonym: "Trichomonas vaginalis caused cervicitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis cervicitis (disease)" EXACT []
xref: MEDGEN:149274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35588 {source="MONDO:equivalentTo"}
xref: UMLS:C0742232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:149274"}
is_a: MONDO:0002154 {source="NCIT:C35588"} ! trichomoniasis
intersection_of: MONDO:0002345 ! cervicitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5722 ! Trichomonas vaginalis

[Term]
id: MONDO:0030711
name: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive" EXACT DEPRECATED [OMIM:619789]
synonym: "CDA, IIA IIIB" EXACT DEPRECATED [OMIM:619789]
synonym: "CDAN3B" EXACT ABBREVIATION [OMIM:619789]
xref: MEDGEN:1800829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619789 {source="MONDO:equivalentTo"}
xref: UMLS:C5676940 {source="MEDGEN:1800829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019403 {source="OMIM:619789"} ! congenital dyserythropoietic anemia

[Term]
id: MONDO:0030712
name: oculopharyngodistal myopathy 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "oculopharyngodistal myopathy 4" EXACT [OMIM:619790]
synonym: "OPDM4" EXACT ABBREVIATION [OMIM:619790]
xref: DOID:0081300 {source="MONDO:equivalentTo"}
xref: MEDGEN:1809981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619790 {source="MONDO:equivalentTo"}
xref: UMLS:C5676941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809981"}
is_a: MONDO:0025193 {source="OMIM:619790"} ! oculopharyngodistal myopathy

[Term]
id: MONDO:0030714
name: osteogenesis imperfecta, IIA 22
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "OI22" EXACT ABBREVIATION [OMIM:619795]
synonym: "osteogenesis imperfecta, IIA 22" EXACT [OMIM:619795]
xref: MEDGEN:1801631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619795 {source="MONDO:equivalentTo"}
xref: UMLS:C5676943 {source="MEDGEN:1801631", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="OMIM:619795"} ! osteogenesis imperfecta

[Term]
id: MONDO:0030716
name: spermatogenic failure 66
synonym: "spermatogenic failure 66" EXACT [OMIM:619799]
synonym: "SPGF66" EXACT ABBREVIATION [OMIM:619799]
xref: MEDGEN:1806298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619799 {source="MONDO:equivalentTo"}
xref: UMLS:C5676945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806298"}
is_a: MONDO:0004983 {source="OMIM:619799"} ! spermatogenic failure

[Term]
id: MONDO:0030717
name: immunodeficiency 97 with autoinflammation
def: "An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619802]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "IMD97" EXACT ABBREVIATION [OMIM:619802]
synonym: "immunodeficiency 97 with autoinflammation" EXACT [OMIM:619802]
xref: MEDGEN:1802936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619802 {source="MONDO:equivalentTo"}
xref: UMLS:C5676946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802936"}
is_a: MONDO:0021094 {source="OMIM:619802"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030718
name: spermatogenic failure 67
synonym: "spermatogenic failure 67" EXACT [OMIM:619803]
synonym: "SPGF67" EXACT ABBREVIATION [OMIM:619803]
xref: MEDGEN:1804099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619803 {source="MONDO:equivalentTo"}
xref: UMLS:C5676947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804099"}
is_a: MONDO:0004983 {source="OMIM:619803"} ! spermatogenic failure

[Term]
id: MONDO:0030719
name: hearing loss, autosomal dominant 82
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal dominant 82" NARROW [OMIM:619804]
synonym: "DFNA82" EXACT ABBREVIATION [OMIM:619804]
xref: MEDGEN:1803416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619804 {source="MONDO:equivalentTo"}
xref: UMLS:C5676948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803416"}
is_a: MONDO:0019587 {source="OMIM:619804"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0030720
name: trichomonal vulvovaginitis
def: "An vulvovaginitis caused by infection with Trichomonas vaginalis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "leukorrhea vaginalis - trichomonal" RELATED []
synonym: "trichomonal leukorrhea" RELATED []
synonym: "trichomonal vulvovaginitis" EXACT []
synonym: "Trichomonas vaginalis caused vulvovaginitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas vaginalis vulvovaginitis" EXACT []
xref: ICD9:131.01 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:754472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:81598001 {source="MONDO:equivalentTo"}
xref: UMLS:C2945558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:754472"}
is_a: MONDO:0005993 {source="MONDO:Redundant"} ! Trichomonas vaginitis urogenital infection
is_a: MONDO:0007019 {source="MONDO:Redundant"} ! vulvovaginitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5722 ! Trichomonas vaginalis
intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina
intersection_of: disease_has_inflammation_site UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0030721
name: spermatogenic failure 68
synonym: "spermatogenic failure 68" EXACT [OMIM:619805]
synonym: "SPGF68" EXACT ABBREVIATION [OMIM:619805]
xref: MEDGEN:1812032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619805 {source="MONDO:equivalentTo"}
xref: UMLS:C5676949 {source="MEDGEN:1812032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619805"} ! spermatogenic failure

[Term]
id: MONDO:0030723
name: hearing loss, autosomal dominant 83
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal dominant 83" NARROW [OMIM:619808]
synonym: "DFNA83" EXACT ABBREVIATION [OMIM:619808]
xref: MEDGEN:1812664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619808 {source="MONDO:equivalentTo"}
xref: UMLS:C5676951 {source="MEDGEN:1812664", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="OMIM:619808"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0030724
name: hearing loss, autosomal dominant 84
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal dominant 84" NARROW [OMIM:619810]
synonym: "DFNA84" EXACT ABBREVIATION [OMIM:619810]
xref: MEDGEN:1801352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619810 {source="MONDO:equivalentTo"}
xref: UMLS:C5676952 {source="MEDGEN:1801352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="OMIM:619810"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0030726
name: neutropenia, severe congenital, 9, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "neutropenia, severe congenital, 9, autosomal dominant" EXACT [OMIM:619813]
synonym: "SCN9" EXACT ABBREVIATION [OMIM:619813]
xref: MEDGEN:1802793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619813 {source="MONDO:equivalentTo"}
xref: UMLS:C5676954 {source="MEDGEN:1802793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018542 {source="OMIM:619813"} ! severe congenital neutropenia

[Term]
id: MONDO:0030727
name: developmental and epileptic encephalopathy 101
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE101" EXACT ABBREVIATION [OMIM:619814]
synonym: "developmental and epileptic encephalopathy 101" EXACT [OMIM:619814]
xref: DOID:0070387 {source="MONDO:equivalentTo"}
xref: MEDGEN:1805172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619814 {source="MONDO:equivalentTo"}
xref: UMLS:C5676955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805172"}
is_a: MONDO:0100062 {source="OMIM:619814"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0030729
name: Tessadori-van Haaften neurodevelopmental syndrome 1
synonym: "Tessadori-van Haaften neurodevelopmental syndrome 1" EXACT [OMIM:619758]
synonym: "TEVANED1" EXACT ABBREVIATION [OMIM:619758]
xref: MEDGEN:1810348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619758 {source="MONDO:equivalentTo"}
xref: UMLS:C5676922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810348"}
is_a: MONDO:0031400 {source="OMIM:619758"} ! Tessadori-Van-Haaften neurodevelopmental syndrome

[Term]
id: MONDO:0030730
name: Tessadori-van Haaften neurodevelopmental syndrome 2
synonym: "Tessadori-van Haaften neurodevelopmental syndrome 2" EXACT [OMIM:619759]
synonym: "TEVANED2" EXACT ABBREVIATION [OMIM:619759]
xref: MEDGEN:1803228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619759 {source="MONDO:equivalentTo"}
xref: UMLS:C5676923 {source="MEDGEN:1803228", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031400 {source="OMIM:619759"} ! Tessadori-Van-Haaften neurodevelopmental syndrome

[Term]
id: MONDO:0030731
name: aortic aneurysm, familial thoracic 12
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AAT12" EXACT ABBREVIATION [OMIM:619825]
synonym: "aortic aneurysm, familial thoracic 12" EXACT [OMIM:619825]
xref: MEDGEN:1802657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619825 {source="MONDO:equivalentTo"}
xref: UMLS:C5676959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802657"}
is_a: MONDO:0019625 {source="OMIM:619825"} ! familial thoracic aortic aneurysm and aortic dissection

[Term]
id: MONDO:0030732
name: spermatogenic failure 69
synonym: "spermatogenic failure 69" EXACT [OMIM:619826]
synonym: "SPGF69" EXACT ABBREVIATION [OMIM:619826]
xref: MEDGEN:1811285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619826 {source="MONDO:equivalentTo"}
xref: UMLS:C5676960 {source="MEDGEN:1811285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619826"} ! spermatogenic failure

[Term]
id: MONDO:0030733
name: spermatogenic failure 70
synonym: "spermatogenic failure 70" EXACT [OMIM:619828]
synonym: "SPGF70" EXACT ABBREVIATION [OMIM:619828]
xref: MEDGEN:1809945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619828 {source="MONDO:equivalentTo"}
xref: UMLS:C5676962 {source="MEDGEN:1809945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619828"} ! spermatogenic failure

[Term]
id: MONDO:0030736
name: ovarian dysgenesis 10
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ODG10" EXACT ABBREVIATION [OMIM:619834]
synonym: "ovarian dysgenesis 10" EXACT [OMIM:619834]
xref: MEDGEN:1801078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619834 {source="MONDO:equivalentTo"}
xref: UMLS:C5676966 {source="MEDGEN:1801078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009299 {source="OMIM:619834"} ! 46 XX gonadal dysgenesis

[Term]
id: MONDO:0030746
name: epidermolysis bullosa, junctional 2A, intermediate
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermolysis bullosa, junctional 2A, generalised intermediate" EXACT OMO:0003005 []
synonym: "epidermolysis bullosa, junctional 2A, generalized intermediate" EXACT [OMIM:619783]
synonym: "epidermolysis bullosa, junctional 2A, intermediate" EXACT [OMIM:619783]
synonym: "epidermolysis bullosa, junctional 2A, non-herlitz IIA" EXACT [OMIM:619783]
synonym: "JEB2A" EXACT ABBREVIATION [OMIM:619783]
xref: MEDGEN:1807376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619783 {source="MONDO:equivalentTo"}
xref: UMLS:C5676936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807376"}
is_a: MONDO:0017612 {source="OMIM:619783"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0030747
name: epidermolysis bullosa, junctional 2B, severe
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermolysis bullosa, junctional 2B, generalised severe" EXACT OMO:0003005 []
synonym: "epidermolysis bullosa, junctional 2B, generalized severe" EXACT [OMIM:619784]
synonym: "epidermolysis bullosa, junctional 2B, herlitz IIA" EXACT [OMIM:619784]
synonym: "epidermolysis bullosa, junctional 2B, severe" EXACT [OMIM:619784]
synonym: "JEB2B" EXACT ABBREVIATION [OMIM:619784]
xref: MEDGEN:1805467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619784 {source="MONDO:equivalentTo"}
xref: UMLS:C5676937 {source="MEDGEN:1805467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017612 {source="OMIM:619784"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0030748
name: epidermolysis bullosa, junctional 3A, intermediate
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermolysis bullosa, junctional 3A, generalised intermediate" EXACT OMO:0003005 []
synonym: "epidermolysis bullosa, junctional 3A, generalized intermediate" EXACT [OMIM:619785]
synonym: "epidermolysis bullosa, junctional 3A, intermediate" EXACT [OMIM:619785]
synonym: "epidermolysis bullosa, junctional 3A, non-herlitz IIA" EXACT [OMIM:619785]
synonym: "JEB3A" EXACT ABBREVIATION [OMIM:619785]
xref: MEDGEN:1812940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619785 {source="MONDO:equivalentTo"}
xref: UMLS:C5676938 {source="MONDO:equivalentTo", source="MEDGEN:1812940", source="MONDO:MEDGEN"}
is_a: MONDO:0017612 {source="OMIM:619785"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0030749
name: epidermolysis bullosa, junctional 3B, severe
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermolysis bullosa, junctional 3B, generalised severe" EXACT OMO:0003005 []
synonym: "epidermolysis bullosa, junctional 3B, generalized severe" EXACT [OMIM:619786]
synonym: "epidermolysis bullosa, junctional 3B, herlitz IIA" EXACT [OMIM:619786]
synonym: "epidermolysis bullosa, junctional 3B, severe" EXACT [OMIM:619786]
synonym: "JEB3B" EXACT ABBREVIATION [OMIM:619786]
xref: MEDGEN:1807897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619786 {source="MONDO:equivalentTo"}
xref: UMLS:C5676939 {source="MEDGEN:1807897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017612 {source="OMIM:619786"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0030750
name: epidermolysis bullosa, junctional 4, intermediate
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epidermolysis bullosa, generalised atrophic benign" EXACT OMO:0003005 []
synonym: "epidermolysis bullosa, generalized atrophic benign" EXACT [OMIM:619787]
synonym: "epidermolysis bullosa, junctional 4, intermediate" EXACT [OMIM:619787]
synonym: "epidermolysis bullosa, junctional 4, non-herlitz IIA" EXACT [OMIM:619787]
synonym: "epidermolysis bullosa, junctional, localisata variant" EXACT [OMIM:619787]
synonym: "JEB4" EXACT ABBREVIATION [OMIM:619787]
xref: MEDGEN:382015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619787 {source="MONDO:equivalentTo"}
xref: UMLS:C2608084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382015"}
is_a: MONDO:0017612 {source="OMIM:619787"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0030756
name: Stuve-Wiedemann syndrome 2
subset: otar {source="MONDO:OTAR"}
synonym: "Stuve-Wiedemann syndrome 2" EXACT [OMIM:619751]
synonym: "STWS2" EXACT ABBREVIATION [OMIM:619751]
xref: MEDGEN:1805977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619751 {source="MONDO:equivalentTo"}
xref: UMLS:C5676919 {source="MONDO:equivalentTo", source="MEDGEN:1805977", source="MONDO:MEDGEN"}
is_a: MONDO:0031280 {source="OMIM:619751"} ! Stuve-Wiedemann syndrome

[Term]
id: MONDO:0030767
name: obsolete genetic tumor of hematopoietic and lymphoid tissues
subset: ordo_group_of_disorders {source="Orphanet:322126"}
xref: GARD:21434 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:322126 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0019044

[Term]
id: MONDO:0030768
name: epidermolysis bullosa, junctional 5A, intermediate
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermolysis bullosa, junctional 5A, generalised intermediate" EXACT OMO:0003005 []
synonym: "epidermolysis bullosa, junctional 5A, generalized intermediate" EXACT [OMIM:619816]
synonym: "epidermolysis bullosa, junctional 5A, intermediate" EXACT [OMIM:619816]
synonym: "epidermolysis bullosa, junctional 5A, non-herlitz IIA" EXACT [OMIM:619816]
synonym: "JEB5A" EXACT ABBREVIATION [OMIM:619816]
xref: MEDGEN:1811851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619816 {source="MONDO:equivalentTo"}
xref: UMLS:C5676956 {source="MONDO:equivalentTo", source="MEDGEN:1811851", source="MONDO:MEDGEN"}
is_a: MONDO:0017612 {source="OMIM:619816"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0030770
name: congenital disorder of deglycosylation 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CDDG2" EXACT ABBREVIATION [OMIM:619775]
synonym: "congenital disorder of deglycosylation 2" EXACT [OMIM:619775]
xref: MEDGEN:1809253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619775 {source="MONDO:equivalentTo"}
xref: UMLS:C5676931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809253"}
is_a: MONDO:0031376 {source="OMIM:619775"} ! congenital disorder of deglycosylation

[Term]
id: MONDO:0030781
name: restrictive dermopathy 2
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "restrictive dermopathy 2" EXACT [OMIM:619793]
synonym: "restrictive dermopathy 2, lethal" EXACT [OMIM:619793]
synonym: "RSDM2" EXACT ABBREVIATION [OMIM:619793]
xref: DOID:0070370 {source="MONDO:equivalentTo"}
xref: MEDGEN:1801155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619793 {source="MONDO:equivalentTo"}
xref: UMLS:C5676942 {source="MEDGEN:1801155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031213 {source="OMIM:619793"} ! restrictive dermopathy

[Term]
id: MONDO:0030785
name: intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly" EXACT [OMIM:619827]
synonym: "MRT75" EXACT ABBREVIATION [OMIM:619827]
xref: DOID:0081234 {source="MONDO:equivalentTo"}
xref: MEDGEN:1808159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619827 {source="MONDO:equivalentTo"}
xref: UMLS:C5676961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808159"}
is_a: MONDO:0019502 {source="OMIM:619827"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0030787
name: spermatogenic failure 71
synonym: "spermatogenic failure 71" EXACT [OMIM:619831]
synonym: "SPGF71" EXACT ABBREVIATION [OMIM:619831]
xref: MEDGEN:1801153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619831 {source="MONDO:equivalentTo"}
xref: UMLS:C5676963 {source="MEDGEN:1801153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619831"} ! spermatogenic failure

[Term]
id: MONDO:0030796
name: leukoencephalopathy, hereditary diffuse, with spheroids
xref: MEDGEN:777989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:221820 {source="MONDO:equivalentTo"}
xref: UMLS:C3711381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777989"}
is_a: MONDO:0003847 {source="OMIMPS:221820"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:221820"} ! inherited

[Term]
id: MONDO:0030797
name: retinitis pigmentosa 93
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 93" EXACT [OMIM:619845]
synonym: "RP93" EXACT ABBREVIATION [OMIM:619845]
xref: MEDGEN:1810905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619845 {source="MONDO:equivalentTo"}
xref: UMLS:C5676970 {source="MEDGEN:1810905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="OMIM:619845"} ! retinitis pigmentosa
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0030798
name: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
def: "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619846, PMID:32484799]
synonym: "IMD99" EXACT ABBREVIATION [OMIM:619846]
synonym: "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias" EXACT [OMIM:619846]
xref: MEDGEN:1801342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619846 {source="MONDO:equivalentTo"}
xref: UMLS:C5676971 {source="MEDGEN:1801342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619846"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030800
name: cholestasis, progressive familial intrahepatic, 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cholestasis, progressive familial intrahepatic, 9" EXACT [OMIM:619849]
synonym: "PFIC9" EXACT ABBREVIATION [OMIM:619849]
xref: MEDGEN:1809292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619849 {source="MONDO:equivalentTo"}
xref: UMLS:C5676973 {source="MEDGEN:1809292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015762 {source="OMIM:619849"} ! progressive familial intrahepatic cholestasis

[Term]
id: MONDO:0030801
name: monosomy 7 myelodysplasia and leukemia syndrome 2
subset: gard_rare {source="GARD:18506", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "M7MLS2" EXACT ABBREVIATION [OMIM:619041]
synonym: "monosomy 7 myelodysplasia and leukemia syndrome 2" EXACT [OMIM:619041]
xref: GARD:18506 {source="MONDO:GARD"}
xref: MEDGEN:1762901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619041 {source="MONDO:equivalentTo"}
xref: UMLS:C5436668 {source="MEDGEN:1762901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044645 {source="OMIM:619041"} ! familial monosomy 7 syndrome

[Term]
id: MONDO:0030805
name: spinocerebellar ataxia 49
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:631106"}
subset: orphanet_rare {source="Orphanet:631106"}
subset: rare
synonym: "SCA49" EXACT ABBREVIATION [OMIM:619806]
synonym: "spinocerebellar ataxia 49" EXACT [OMIM:619806]
xref: MEDGEN:1805601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619806 {source="MONDO:equivalentTo"}
xref: Orphanet:631106 {source="MONDO:equivalentTo"}
xref: UMLS:C5676950 {source="MEDGEN:1805601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020380 {source="OMIM:619806"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0030809
name: spermatogenic failure 72
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure 72" EXACT [OMIM:619867]
synonym: "SPGF72" EXACT ABBREVIATION [OMIM:619867]
xref: MEDGEN:1803118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619867 {source="MONDO:equivalentTo"}
xref: UMLS:C5676980 {source="MEDGEN:1803118", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619867"} ! spermatogenic failure

[Term]
id: MONDO:0030810
name: cholestasis, progressive familial intrahepatic, 10
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cholestasis, progressive familial intrahepatic, 10" EXACT [OMIM:619868]
synonym: "PFIC10" EXACT ABBREVIATION [OMIM:619868]
xref: MEDGEN:1807702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619868 {source="MONDO:equivalentTo"}
xref: UMLS:C5676981 {source="MEDGEN:1807702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015762 {source="OMIM:619868"} ! progressive familial intrahepatic cholestasis

[Term]
id: MONDO:0030813
name: immunodeficiency 101 (varicella zoster virus-specific)
synonym: "IMD101" EXACT ABBREVIATION [OMIM:619872]
synonym: "immunodeficiency 101 (varicella zoster virus-specific)" EXACT [OMIM:619872]
xref: MEDGEN:1810668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619872 {source="MONDO:equivalentTo"}
xref: UMLS:C5676983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810668"}
is_a: MONDO:0021094 {source="OMIM:619872"} ! immunodeficiency disease

[Term]
id: MONDO:0030815
name: cholestasis, progressive familial intrahepatic, 11
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cholestasis, progressive familial intrahepatic, 11" EXACT [OMIM:619874]
synonym: "PFIC11" EXACT ABBREVIATION [OMIM:619874]
xref: MEDGEN:1807308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619874 {source="MONDO:equivalentTo"}
xref: UMLS:C5676985 {source="MONDO:equivalentTo", source="MEDGEN:1807308", source="MONDO:MEDGEN"}
is_a: MONDO:0015762 {source="OMIM:619874"} ! progressive familial intrahepatic cholestasis

[Term]
id: MONDO:0030818
name: spermatogenic failure 73
synonym: "spermatogenic failure 73" EXACT [OMIM:619878]
synonym: "SPGF73" EXACT ABBREVIATION [OMIM:619878]
xref: MEDGEN:1801127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619878 {source="MONDO:equivalentTo"}
xref: UMLS:C5676988 {source="MEDGEN:1801127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619878"} ! spermatogenic failure

[Term]
id: MONDO:0030819
name: meckel syndrome 14
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "meckel syndrome 14" EXACT [OMIM:619879]
synonym: "MKS14" EXACT ABBREVIATION [OMIM:619879]
xref: MEDGEN:1809650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619879 {source="MONDO:equivalentTo"}
xref: UMLS:C5676989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809650"}
is_a: MONDO:0018921 {source="OMIM:619879"} ! Meckel syndrome

[Term]
id: MONDO:0030822
name: renal hypodysplasia/aplasia 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "renal hypodysplasia/aplasia 4" EXACT [OMIM:619887]
synonym: "RHDA4" EXACT ABBREVIATION [OMIM:619887]
xref: MEDGEN:1808595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619887 {source="MONDO:equivalentTo"}
xref: UMLS:C5676993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808595"}
is_a: MONDO:0018470 {source="OMIM:619887"} ! renal agenesis

[Term]
id: MONDO:0030827
name: macrothrombocytopenia, isolated, 2, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "macrothrombocytopenia, isolated, 2, autosomal dominant" EXACT [OMIM:619840]
synonym: "MACTHC2" EXACT ABBREVIATION [OMIM:619840]
xref: MEDGEN:1802965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619840 {source="MONDO:equivalentTo"}
xref: UMLS:C5676968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802965"}
is_a: MONDO:0031447 {source="OMIM:619840"} ! macrothrombocytopenia, isolated
intersection_of: MONDO:0015372 ! autosomal dominant macrothrombocytopenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12410 ! TUBA8

[Term]
id: MONDO:0030831
name: gastrointestinal defect and immunodeficiency syndrome
xref: MEDGEN:1708537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:243150 {source="MONDO:equivalentTo"}
xref: UMLS:C5234880 {source="MEDGEN:1708537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:243150"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:243150"} ! inherited

[Term]
id: MONDO:0030835
name: developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
synonym: "DIGFAN" EXACT ABBREVIATION [OMIM:619090]
xref: MEDGEN:1765507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619090 {source="MONDO:equivalentTo"}
xref: UMLS:C5436781 {source="MEDGEN:1765507", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030837
name: neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems." [OMIM:619092]
subset: gard_rare {source="GARD:18535", source="MONDO:GARD"}
subset: rare
synonym: "NEDMILEG" BROAD ABBREVIATION [OMIM:619092]
synonym: "NEDMILEG, AD" EXACT ABBREVIATION [OMIM:619092]
synonym: "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant" EXACT [OMIM:619092, OMIM:genemap2]
xref: GARD:18535 {source="MONDO:GARD"}
xref: MEDGEN:1764121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619092 {source="MONDO:equivalentTo"}
xref: UMLS:C5436788 {source="MEDGEN:1764121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619092"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_characteristic HP:0000007 {source="OMIM:619092"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7643 {source="OMIM:619092"} ! NARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5167" xsd:anyURI

[Term]
id: MONDO:0030839
name: thyroid hormone metabolism, abnormal, 2
synonym: "THMA2" EXACT ABBREVIATION [OMIM:619855]
synonym: "thyroid hormone metabolism, abnormal, 2" EXACT [OMIM:619855]
xref: MEDGEN:1812066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619855 {source="MONDO:equivalentTo"}
xref: UMLS:C5676976 {source="MEDGEN:1812066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031432 {source="OMIM:619855"} ! thyroid hormone metabolism, abnormal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0030840
name: mismatch repair cancer syndrome 2
subset: gard_rare {source="GARD:18362", source="MONDO:GARD"}
subset: rare
synonym: "mismatch repair cancer syndrome 2" EXACT [OMIM:619096]
synonym: "MMRCS2" EXACT ABBREVIATION [OMIM:619096]
xref: GARD:18362 {source="MONDO:GARD"}
xref: MEDGEN:1750327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619096 {source="MONDO:equivalentTo"}
xref: UMLS:C5436806 {source="MEDGEN:1750327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031219 {source="OMIM:619096"} ! mismatch repair cancer syndrome

[Term]
id: MONDO:0030841
name: mismatch repair cancer syndrome 3
subset: gard_rare {source="GARD:18363", source="MONDO:GARD"}
subset: rare
synonym: "mismatch repair cancer syndrome 3" EXACT [OMIM:619097]
synonym: "MMRCS3" EXACT ABBREVIATION [OMIM:619097]
xref: GARD:18363 {source="MONDO:GARD"}
xref: MEDGEN:1733656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619097 {source="MONDO:equivalentTo"}
xref: UMLS:C5436807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1733656"}
is_a: MONDO:0031219 {source="OMIM:619097"} ! mismatch repair cancer syndrome

[Term]
id: MONDO:0030843
name: mismatch repair cancer syndrome 4
subset: gard_rare {source="GARD:18364", source="MONDO:GARD"}
subset: rare
synonym: "mismatch repair cancer syndrome 4" EXACT [OMIM:619101]
synonym: "MMRCS4" EXACT ABBREVIATION [OMIM:619101]
xref: GARD:18364 {source="MONDO:GARD"}
xref: MEDGEN:1745382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619101 {source="MONDO:equivalentTo"}
xref: UMLS:C5436817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1745382"}
is_a: MONDO:0031219 {source="OMIM:619101"} ! mismatch repair cancer syndrome

[Term]
id: MONDO:0030844
name: spermatogenic failure 47
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure 47" EXACT [OMIM:619102]
synonym: "SPGF47" EXACT ABBREVIATION [OMIM:619102]
xref: DOID:0112175 {source="MONDO:equivalentTo"}
xref: MEDGEN:1721477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619102 {source="MONDO:equivalentTo"}
xref: UMLS:C5436818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1721477"}
is_a: MONDO:0004983 {source="OMIM:619102"} ! spermatogenic failure

[Term]
id: MONDO:0030846
name: spermatogenic failure 48
subset: gard_rare {source="GARD:16420", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spermatogenic failure 48" EXACT [OMIM:619108]
synonym: "SPGF48" EXACT ABBREVIATION [OMIM:619108]
xref: DOID:0112176 {source="MONDO:equivalentTo"}
xref: GARD:16420 {source="MONDO:GARD"}
xref: MEDGEN:1761843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619108 {source="MONDO:equivalentTo"}
xref: UMLS:C5436823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761843"}
is_a: MONDO:0004983 {source="OMIM:619108"} ! spermatogenic failure

[Term]
id: MONDO:0030847
name: arthrogryposis, distal, type 1C
subset: gard_rare {source="GARD:16421", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis, distal, type 1C" EXACT [OMIM:619110]
synonym: "DA1C" EXACT ABBREVIATION [OMIM:619110]
xref: DOID:0112190 {source="MONDO:equivalentTo"}
xref: GARD:16421 {source="MONDO:GARD"}
xref: MEDGEN:1722257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619110 {source="MONDO:equivalentTo"}
xref: UMLS:C5436834 {source="MEDGEN:1722257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019942 {source="OMIM:619110"} ! distal arthrogryposis

[Term]
id: MONDO:0030849
name: intellectual developmental disorder with speech delay and axonal peripheral neuropathy
subset: gard_rare {source="GARD:18536", source="MONDO:GARD"}
subset: rare
synonym: "IDDSAPN" EXACT ABBREVIATION [OMIM:619099]
xref: GARD:18536 {source="MONDO:GARD"}
xref: MEDGEN:1754849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619099 {source="MONDO:equivalentTo"}
xref: UMLS:C5436813 {source="MEDGEN:1754849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030852
name: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
synonym: "NEDFASB" EXACT ABBREVIATION [OMIM:619103]
synonym: "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" EXACT [OMIM:619103, OMIM:genemap2]
xref: MEDGEN:1777442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619103 {source="MONDO:equivalentTo"}
xref: UMLS:C5436821 {source="MEDGEN:1777442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030854
name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18316", source="MONDO:GARD"}
subset: rare
synonym: "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1" EXACT [OMIM:619115]
synonym: "OIEDS Syndrome 1" EXACT [OMIM:619115]
synonym: "OIEDS1" EXACT ABBREVIATION [OMIM:619115]
xref: GARD:18316 {source="MONDO:GARD"}
xref: MEDGEN:1763836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619115 {source="MONDO:equivalentTo"}
xref: UMLS:C5436842 {source="MEDGEN:1763836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016470 {source="OMIM:619115"} ! Ehlers-Danlos/osteogenesis imperfecta syndrome

[Term]
id: MONDO:0030855
name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18317", source="MONDO:GARD"}
subset: rare
synonym: "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" EXACT [OMIM:619120]
synonym: "OIEDS Syndrome 2" EXACT [OMIM:619120]
synonym: "OIEDS2" EXACT ABBREVIATION [OMIM:619120]
xref: GARD:18317 {source="MONDO:GARD"}
xref: MEDGEN:1751229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619120 {source="MONDO:equivalentTo"}
xref: UMLS:C5436847 {source="MEDGEN:1751229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016470 {source="OMIM:619120"} ! Ehlers-Danlos/osteogenesis imperfecta syndrome

[Term]
id: MONDO:0030856
name: developmental and epileptic encephalopathy 89
subset: gard_rare {source="GARD:16424", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE89" EXACT ABBREVIATION [OMIM:619124]
synonym: "developmental and epileptic encephalopathy 89" EXACT [OMIM:619124]
xref: DOID:0112223 {source="MONDO:equivalentTo"}
xref: GARD:16424 {source="MONDO:GARD"}
xref: MEDGEN:1761611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619124 {source="MONDO:equivalentTo"}
xref: UMLS:C5436853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761611"}
is_a: MONDO:0100062 {source="OMIM:619124"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0030858
name: immunodeficiency 75
subset: gard_rare {source="GARD:18194", source="MONDO:GARD"}
subset: rare
synonym: "IMD75" EXACT ABBREVIATION [OMIM:619126]
synonym: "immunodeficiency 75" EXACT [OMIM:619126]
xref: GARD:18194 {source="MONDO:GARD"}
xref: MEDGEN:1741014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619126 {source="MONDO:equivalentTo"}
xref: UMLS:C5436860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1741014"}
is_a: MONDO:0021094 {source="OMIM:619126"} ! immunodeficiency disease

[Term]
id: MONDO:0030859
name: COACH syndrome 2
subset: gard_rare {source="GARD:16422", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COACH2" EXACT ABBREVIATION [OMIM:619111]
xref: GARD:16422 {source="MONDO:GARD"}
xref: MEDGEN:1752166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619111 {source="MONDO:equivalentTo"}
xref: UMLS:C5436837 {source="MEDGEN:1752166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100349 {source="https://orcid.org/0000-0001-5208-3432"} ! COACH syndrome
intersection_of: MONDO:0100349 ! COACH syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29253 ! CC2D2A

[Term]
id: MONDO:0030860
name: neuronopathy, distal hereditary motor, type 5C
def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:18268", source="MONDO:GARD"}
subset: rare
synonym: "DHMN5C" EXACT [OMIM:619112]
synonym: "HMN5C" EXACT ABBREVIATION [OMIM:619112]
synonym: "neuropathy, distal hereditary motor, type VC" EXACT [OMIM:619112]
synonym: "spinal muscular atrophy, distal, type 5C" EXACT [OMIM:619112]
xref: DOID:0081401 {source="MONDO:equivalentTo"}
xref: GARD:18268 {source="MONDO:GARD"}
xref: MEDGEN:1760720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619112 {source="MONDO:equivalentTo"}
xref: UMLS:C5436838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1760720"}
is_a: MONDO:0100350 {source="OMIM:619112"} ! neuronopathy, distal hereditary motor, type 5
intersection_of: MONDO:0100350 ! neuronopathy, distal hereditary motor, type 5
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15832 ! BSCL2

[Term]
id: MONDO:0030861
name: osteogenesis imperfecta, type 21
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OI21" EXACT ABBREVIATION [OMIM:619131]
synonym: "osteogenesis imperfecta 21" EXACT [OMIM:619131, OMIM:genemap2]
synonym: "osteogenesis imperfecta, TYPE XXI" EXACT [OMIM:619131]
xref: DOID:0112201 {source="MONDO:equivalentTo"}
xref: MEDGEN:1723598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619131 {source="MONDO:equivalentTo"}
xref: UMLS:C5436875 {source="MONDO:equivalentTo", source="MEDGEN:1723598", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="OMIM:619131"} ! osteogenesis imperfecta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030862
name: COACH syndrome 3
subset: gard_rare {source="GARD:16423", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COACH3" EXACT ABBREVIATION [OMIM:619113]
xref: GARD:16423 {source="MONDO:GARD"}
xref: MEDGEN:1755565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619113 {source="MONDO:equivalentTo"}
xref: UMLS:C5436841 {source="MEDGEN:1755565", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100349 {source="https://orcid.org/0000-0001-5208-3432"} ! COACH syndrome
intersection_of: MONDO:0100349 ! COACH syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29168 ! RPGRIP1L

[Term]
id: MONDO:0030864
name: Ritscher-Schinzel syndrome 3
subset: gard_rare {source="GARD:16426", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Ritscher-Schinzel syndrome 3" EXACT [OMIM:619135]
synonym: "RTSC3" EXACT ABBREVIATION [OMIM:619135]
xref: GARD:16426 {source="MONDO:GARD"}
xref: MEDGEN:1744611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619135 {source="MONDO:equivalentTo"}
xref: UMLS:C5436883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1744611"}
is_a: MONDO:0019078 {source="OMIM:619135"} ! Ritscher-Schinzel syndrome

[Term]
id: MONDO:0030866
name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "NEDCASB" EXACT ABBREVIATION [OMIM:619121]
xref: DOID:0070543 {source="MONDO:equivalentTo"}
xref: MEDGEN:1750805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619121 {source="MONDO:equivalentTo"}
xref: UMLS:C5436848 {source="MEDGEN:1750805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0030867
name: thrombocytopenia 7
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "THC7" EXACT ABBREVIATION [OMIM:619130]
synonym: "thrombocytopenia 7" EXACT [OMIM:619130]
synonym: "Thrombocytopenia, Autosomal Dominant, 7" EXACT ABBREVIATION [OMIM:619130]
xref: GARD:18492 {source="MONDO:GARD"}
xref: MEDGEN:1768257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619130 {source="MONDO:equivalentTo"}
xref: UMLS:C5436874 {source="MEDGEN:1768257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100241 {source="OMIM:619130"} ! inherited thrombocytopenia

[Term]
id: MONDO:0030868
name: spermatogenic failure 49
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure 49" EXACT [OMIM:619144]
synonym: "SPGF49" EXACT ABBREVIATION [OMIM:619144]
xref: DOID:0112271 {source="MONDO:equivalentTo"}
xref: MEDGEN:1742668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619144 {source="MONDO:equivalentTo"}
xref: UMLS:C5436887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1742668"}
is_a: MONDO:0004983 {source="OMIM:619144"} ! spermatogenic failure

[Term]
id: MONDO:0030869
name: spermatogenic failures 50
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure" BROAD [OMIM:619145, OMIM:genemap2]
synonym: "spermatogenic failures 50" EXACT [OMIM:619145]
synonym: "SPGF50" EXACT ABBREVIATION [OMIM:619145]
xref: DOID:0112272 {source="MONDO:equivalentTo"}
xref: MEDGEN:1747507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619145 {source="MONDO:equivalentTo"}
xref: UMLS:C5436888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1747507"}
is_a: MONDO:0004983 {source="OMIM:619145"} ! spermatogenic failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030870
name: premature ovarian failure 17
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF17" EXACT ABBREVIATION [OMIM:619146]
synonym: "premature ovarian failure 17" EXACT [OMIM:619146]
xref: DOID:0080874 {source="MONDO:equivalentTo"}
xref: MEDGEN:1748767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619146 {source="MONDO:equivalentTo"}
xref: UMLS:C5436889 {source="MEDGEN:1748767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019852 {source="OMIM:619146"} ! inherited primary ovarian failure

[Term]
id: MONDO:0030871
name: vertebral hypersegmentation and orofacial anomalies
synonym: "VHO" EXACT ABBREVIATION [OMIM:619122]
xref: DOID:0070418 {source="MONDO:equivalentTo"}
xref: MEDGEN:1746640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619122 {source="MONDO:equivalentTo"}
xref: UMLS:C5436851 {source="MEDGEN:1746640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030872
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 8
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 8" EXACT [OMIM:619132]
synonym: "FTDALS8" EXACT ABBREVIATION [OMIM:619132]
xref: GARD:18395 {source="MONDO:GARD"}
xref: MEDGEN:1728824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619132 {source="MONDO:equivalentTo"}
xref: UMLS:C5436881 {source="MEDGEN:1728824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="OMIM:619132"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0030923 {source="OMIM:619132"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis

[Term]
id: MONDO:0030873
name: cardiofacioneurodevelopmental syndrome
synonym: "CFNDS" EXACT ABBREVIATION [OMIM:619123]
xref: MEDGEN:1721861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619123 {source="MONDO:equivalentTo"}
xref: UMLS:C5436852 {source="MEDGEN:1721861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030875
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 5
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16427", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 5" EXACT [OMIM:619141]
synonym: "FTDALS5" EXACT ABBREVIATION [OMIM:619141]
xref: GARD:16427 {source="MONDO:GARD"}
xref: MEDGEN:1756201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619141 {source="MONDO:equivalentTo"}
xref: UMLS:C5436884 {source="MEDGEN:1756201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="OMIM:619141"} ! familial amyotrophic lateral sclerosis
is_a: MONDO:0030923 {source="OMIM:619141"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis

[Term]
id: MONDO:0030876
name: cardioacrofacial dysplasia 1
synonym: "CAFD1" EXACT ABBREVIATION [OMIM:619142]
synonym: "cardioacrofacial dysplasia 1" EXACT [OMIM:619142]
xref: MEDGEN:1777656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619142 {source="MONDO:equivalentTo"}
xref: UMLS:C5436885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1777656"}
is_a: MONDO:0031386 {source="OMIM:619142"} ! cardioacrofacial dysplasia

[Term]
id: MONDO:0030877
name: cardioacrofacial dysplasia 2
synonym: "CAFD2" EXACT ABBREVIATION [OMIM:619143]
synonym: "cardioacrofacial dysplasia 2" EXACT [OMIM:619143]
synonym: "cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism" EXACT [OMIM:619143, OMIM:genemap2]
xref: MEDGEN:1731253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619143 {source="MONDO:equivalentTo"}
xref: UMLS:C5436886 {source="MEDGEN:1731253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031386 {source="OMIM:619143"} ! cardioacrofacial dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030878
name: Kaya-Barakat-Masson syndrome
subset: gard_rare {source="GARD:18537", source="MONDO:GARD"}
subset: rare
synonym: "KABAMAS" EXACT ABBREVIATION [OMIM:619125]
xref: GARD:18537 {source="MONDO:GARD"}
xref: MEDGEN:1725501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619125 {source="MONDO:equivalentTo"}
xref: UMLS:C5436856 {source="MONDO:equivalentTo", source="MEDGEN:1725501", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030880
name: mandibuloacral dysplasia progeroid syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647667"}
subset: orphanet_rare {source="Orphanet:647667"}
subset: rare
synonym: "mandibuloacral dysplasia associated to MTX2" EXACT [Orphanet:647667]
synonym: "MDPS" EXACT ABBREVIATION [OMIM:619127]
xref: MEDGEN:1741713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619127 {source="MONDO:equivalentTo"}
xref: Orphanet:647667 {source="MONDO:equivalentTo"}
xref: UMLS:C5436867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1741713"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030881
name: developmental and epileptic encephalopathy 102
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE102" EXACT ABBREVIATION [OMIM:619881]
synonym: "developmental and epileptic encephalopathy 102" EXACT [OMIM:619881]
xref: DOID:0070388 {source="MONDO:equivalentTo"}
xref: MEDGEN:1812769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619881 {source="MONDO:equivalentTo"}
xref: UMLS:C5676991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812769"}
is_a: MONDO:0100062 {source="OMIM:619881"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0030883
name: carpal tunnel syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "carpal tunnel syndrome 2" EXACT [OMIM:619161]
synonym: "CTS2" EXACT ABBREVIATION [OMIM:619161]
xref: DOID:0070467 {source="MONDO:equivalentTo"}
xref: MEDGEN:1725962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619161 {source="MONDO:equivalentTo"}
xref: UMLS:C5436916 {source="MEDGEN:1725962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007275 {source="OMIM:619161"} ! carpal tunnel syndrome

[Term]
id: MONDO:0030885
name: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16425", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ALS26" EXACT ABBREVIATION [OMIM:619133]
xref: DOID:0081380 {source="MONDO:equivalentTo"}
xref: GARD:16425 {source="MONDO:GARD"}
xref: MEDGEN:1771903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619133 {source="MONDO:equivalentTo"}
xref: UMLS:C5436882 {source="MEDGEN:1771903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005144 {source="OMIM:619133"} ! familial amyotrophic lateral sclerosis

[Term]
id: MONDO:0030886
name: holoprosencephaly 14
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "holoprosencephaly 14" EXACT [OMIM:619895]
synonym: "HPE14" EXACT ABBREVIATION [OMIM:619895]
xref: MEDGEN:1811868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619895 {source="MONDO:equivalentTo"}
xref: UMLS:C5676994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811868"}
is_a: MONDO:0016296 {source="OMIM:619895"} ! holoprosencephaly

[Term]
id: MONDO:0030887
name: cardiomyopathy, dilated, 2G
def: "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31." [DOID:0081163]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, dilated, 2G" EXACT [OMIM:619897]
synonym: "CMD2G" EXACT ABBREVIATION [OMIM:619897]
xref: DOID:0081163 {source="MONDO:equivalentTo"}
xref: MEDGEN:1801983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619897 {source="MONDO:equivalentTo"}
xref: UMLS:C5676995 {source="MEDGEN:1801983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="OMIM:619897"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0030890
name: pontocerebellar hypoplasia, IIA 17
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PCH17" EXACT ABBREVIATION [OMIM:619909]
synonym: "pontocerebellar hypoplasia, IIA 17" EXACT [OMIM:619909]
xref: MEDGEN:1809583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619909 {source="MONDO:equivalentTo"}
xref: UMLS:C5676999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809583"}
is_a: MONDO:0020135 {source="OMIM:619909"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0030891
name: intellectual developmental disorder, autosomal dominant 66
synonym: "intellectual developmental disorder, autosomal dominant 66" EXACT [OMIM:619910]
synonym: "mental retardation, autosomal dominant 66" EXACT DEPRECATED [OMIM:619910]
synonym: "MRD66" EXACT DEPRECATED [OMIM:619910]
xref: MEDGEN:1812470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619910 {source="MONDO:equivalentTo"}
xref: UMLS:C5677000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812470"}
is_a: MONDO:0100172 {source="OMIM:619910"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0030893
name: leukoencephalopathy, progressive, infantile-onset, with or without deafness
subset: otar {source="MONDO:OTAR"}
synonym: "LEPID" EXACT ABBREVIATION [OMIM:619147]
xref: MEDGEN:1779519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619147 {source="MONDO:equivalentTo"}
xref: UMLS:C5542996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779519"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030894
name: AMED syndrome, digenic
subset: gard_rare {source="GARD:18026", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:611216"}
subset: orphanet_rare {source="Orphanet:611216"}
subset: rare
synonym: "AMeD syndrome" EXACT [Orphanet:611216]
synonym: "AMED syndrome, digenic" EXACT [OMIM:619151]
synonym: "AMEDS" EXACT ABBREVIATION [OMIM:619151]
synonym: "aplastic anemia-intellectual disability-dwarfism syndrome" EXACT [Orphanet:611216]
synonym: "bone marrow failure syndrome 7, digenic" EXACT [OMIM:619151]
xref: DOID:0080952 {source="MONDO:equivalentTo"}
xref: GARD:18026 {source="MONDO:GARD"}
xref: MEDGEN:1754257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619151 {source="MONDO:equivalentTo"}
xref: Orphanet:611216 {source="MONDO:equivalentTo"}
xref: UMLS:C5436906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1754257"}
is_a: MONDO:0000159 {source="OMIM:619151"} ! bone marrow failure syndrome

[Term]
id: MONDO:0030895
name: nephrotic syndrome, type 22
subset: gard_rare {source="GARD:16428", source="MONDO:GARD"}
subset: rare
synonym: "nephrotic syndrome, type 22" EXACT [OMIM:619155]
synonym: "NPHS22" EXACT ABBREVIATION [OMIM:619155]
xref: DOID:0112268 {source="MONDO:equivalentTo"}
xref: GARD:16428 {source="MONDO:GARD"}
xref: MEDGEN:1745920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619155 {source="MONDO:equivalentTo"}
xref: UMLS:C5436909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1745920"}
is_a: MONDO:0002350 {source="OMIM:619155"} ! familial nephrotic syndrome

[Term]
id: MONDO:0030896
name: chromosome 13q33-q34 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:1744234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619148 {source="MONDO:equivalentTo"}
xref: UMLS:C5436890 {source="MONDO:equivalentTo", source="MEDGEN:1744234", source="MONDO:MEDGEN"}
is_a: MONDO:0016911 {source="OMIM:619148"} ! partial deletion of the long arm of chromosome 13

[Term]
id: MONDO:0030897
name: Lessel-Kreienkamp syndrome
subset: gard_rare {source="GARD:18538", source="MONDO:GARD"}
subset: rare
synonym: "LESKRES" EXACT ABBREVIATION [OMIM:619149]
xref: GARD:18538 {source="MONDO:GARD"}
xref: MEDGEN:1762595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619149 {source="MONDO:equivalentTo"}
xref: UMLS:C5436892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1762595"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030898
name: immunodeficiency 76
def: "An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619164]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647804"}
subset: orphanet_rare {source="Orphanet:647804"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined immunodeficiency due to FCHO1 deficiency" EXACT [Orphanet:647804]
synonym: "IMD76" EXACT ABBREVIATION [OMIM:619164]
synonym: "immunodeficiency 76" EXACT [OMIM:619164]
synonym: "immunodeficiency due to FCHO1 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1781281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619164 {source="MONDO:equivalentTo"}
xref: Orphanet:647804 {source="MONDO:equivalentTo"}
xref: UMLS:C5543004 {source="MEDGEN:1781281", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619164"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0030899
name: oculocutaneous albinism type 8
subset: gard_rare {source="GARD:18017", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597733"}
subset: orphanet_rare {source="Orphanet:597733"}
subset: rare
synonym: "OCA8" EXACT ABBREVIATION [OMIM:619165]
synonym: "oculocutaneous albinism, type 8" EXACT [OMIM:619165]
synonym: "oculocutaneous albinism, type VIII" EXACT [OMIM:619165, OMIM:genemap2]
xref: GARD:18017 {source="MONDO:GARD"}
xref: MEDGEN:1754121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619165 {source="MONDO:equivalentTo"}
xref: Orphanet:597733 {source="MONDO:equivalentTo"}
xref: UMLS:C5436929 {source="MEDGEN:1754121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018910 {source="OMIM:619165"} ! oculocutaneous albinism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030900
name: intellectual developmental disorder with paroxysmal dyskinesia or seizures
subset: otar {source="MONDO:OTAR"}
synonym: "IDDPADS" EXACT ABBREVIATION [OMIM:619150]
xref: MEDGEN:1727046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619150 {source="MONDO:equivalentTo"}
xref: UMLS:C5436894 {source="MEDGEN:1727046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030902
name: mitochondrial complex 1 deficiency, nuclear type 36
subset: gard_rare {source="GARD:16431", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN36" EXACT ABBREVIATION [OMIM:619170]
synonym: "mitochondrial complex 1 deficiency, nuclear type 36" EXACT [OMIM:619170]
synonym: "mitochondrial complex I deficiency, nuclear type 36" EXACT [OMIM:619170, OMIM:genemap2]
xref: GARD:16431 {source="MONDO:GARD"}
xref: MEDGEN:1773965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619170 {source="MONDO:equivalentTo"}
xref: UMLS:C5436935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773965"}
is_a: MONDO:0100223 {source="OMIM:619170"} ! mitochondrial complex I deficiency, nuclear type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030903
name: Hermansky-Pudlak syndrome 11
subset: gard_rare {source="GARD:18339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Hermansky-Pudlak syndrome" BROAD [OMIM:619172]
synonym: "HPS11" EXACT ABBREVIATION [OMIM:619172]
xref: GARD:18339 {source="MONDO:GARD"}
xref: MEDGEN:1727728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619172 {source="MONDO:equivalentTo"}
xref: UMLS:C5436936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1727728"}
is_a: MONDO:0019312 {source="OMIM:619172"} ! Hermansky-Pudlak syndrome

[Term]
id: MONDO:0030905
name: hearing loss, autosomal recessive 117
subset: gard_rare {source="GARD:22665", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 117" NARROW [OMIM:619174, OMIM:genemap2]
synonym: "DFNB117" NARROW ABBREVIATION [OMIM:619174]
xref: GARD:22665 {source="MONDO:GARD"}
xref: MEDGEN:1747842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619174 {source="MONDO:equivalentTo"}
xref: UMLS:C5436937 {source="MONDO:equivalentTo", source="MEDGEN:1747842", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="OMIM:619174"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0030906
name: Trichomonas tenax infectious disease
def: "An disease or disorder caused by infection with Trichomonas tenax." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas tenax caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichomonas tenax disease or disorder" EXACT []
synonym: "Trichomonas tenax trichomoniasis" RELATED [DOID:0050270]
xref: DOID:0050270 {source="MONDO:equivalentTo"}
is_a: MONDO:0002154 {source="DOID:0050270", source="MONDO:Redundant"} ! trichomoniasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:43075 ! Trichomonas tenax

[Term]
id: MONDO:0030907
name: intellectual disability, X-linked 106
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 106, X-linked recessive" EXACT [OMIM:300997, OMIM:genemap2]
synonym: "intellectual disability, X-linked 106" EXACT CLINGEN_LABEL [OMIM:300997]
synonym: "mental retardation, X-linked 106" RELATED DEPRECATED [OMIM:300997]
synonym: "MRX106" RELATED DEPRECATED [OMIM:300997]
synonym: "X-linked intellectual disability 106" RELATED [DOID:0080240]
synonym: "X-linked mental retardation 106" RELATED DEPRECATED [DOID:0080240]
xref: DOID:0080240 {source="MONDO:equivalentTo"}
xref: MEDGEN:1389156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300997 {source="DOID:0080240", source="MONDO:equivalentTo"}
xref: UMLS:C4478379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1389156"}
is_a: MONDO:0019181 {source="DOID:0080240", source="OMIM:300997"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030908
name: intellectual disability, X-linked, syndromic, 35
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive" EXACT [OMIM:300998, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic, 35" EXACT [OMIM:300998]
synonym: "mental retardation, X-linked, syndromic, 35" RELATED DEPRECATED [OMIM:300998]
synonym: "MRXS35" RELATED DEPRECATED [OMIM:300998]
synonym: "syndromic X-linked intellectual disability 35" RELATED [DOID:0080241]
synonym: "syndromic X-linked mental retardation 35" RELATED DEPRECATED [DOID:0080241]
xref: DOID:0080241 {source="MONDO:equivalentTo"}
xref: MEDGEN:1392054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300998 {source="DOID:0080241", source="MONDO:equivalentTo"}
xref: Orphanet:435938 {source="MONDO:directSiblingOf", source="OMIM:300998"}
xref: Orphanet:459070 {source="MONDO:relatedTo", source="OMIM:300998"}
xref: UMLS:C4478383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392054"}
is_a: MONDO:0020119 {source="DOID:0080241", source="OMIM:300998", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0030909
name: intellectual disability, X-linked, syndromic, Houge type
subset: gard_rare {source="GARD:15282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked, syndromic, Houge type" EXACT [OMIM:301008, OMIM:genemap2]
synonym: "intellectual disability, X-linked, syndromic, HOUGE type" RELATED [OMIM:301008]
synonym: "intellectual disability, X-linked, syndromic, Houge type" EXACT CLINGEN_LABEL [OMIM:301008]
synonym: "mental retardation, X-linked, syndromic, HOUGE type" RELATED DEPRECATED [OMIM:301008]
synonym: "mental retardation, X-linked, syndromic, Houge type" RELATED DEPRECATED [OMIM:301008]
synonym: "MRXSHG" RELATED DEPRECATED [OMIM:301008]
synonym: "syndromic X-linked intellectual disability Hough type" RELATED [DOID:0080242]
synonym: "syndromic X-linked mental retardation Hough type" RELATED DEPRECATED [DOID:0080242]
xref: DOID:0080242 {source="MONDO:equivalentTo"}
xref: GARD:15282 {source="MONDO:GARD"}
xref: MEDGEN:1624740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301008 {source="DOID:0080242", source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:301008"}
xref: UMLS:C4538788 {source="MEDGEN:1624740", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="DOID:0080242", source="OMIM:301008", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0030910
name: intellectual disability, autosomal dominant 45
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 45" RELATED [DOID:0080236]
synonym: "autosomal dominant mental retardation 45" RELATED DEPRECATED [DOID:0080236]
synonym: "intellectual disability, autosomal dominant 45" EXACT CLINGEN_LABEL [OMIM:617600]
synonym: "mental retardation, autosomal dominant 45" RELATED DEPRECATED [OMIM:617600]
synonym: "MRD45" RELATED DEPRECATED [OMIM:617600]
xref: DOID:0080236 {source="MONDO:equivalentTo"}
xref: MEDGEN:1616472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617600 {source="MONDO:equivalentTo", source="DOID:0080236"}
xref: UMLS:C4539848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616472"}
is_a: MONDO:0015802 {source="DOID:0080236", source="OMIM:617600"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0030911
name: intellectual disability, autosomal dominant 46
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 46" RELATED [DOID:0080237]
synonym: "autosomal dominant mental retardation 46" RELATED DEPRECATED [DOID:0080237]
synonym: "intellectual disability, autosomal dominant 46" EXACT [OMIM:617601]
synonym: "mental retardation, autosomal dominant 46" RELATED DEPRECATED [OMIM:617601]
synonym: "MRD46" RELATED DEPRECATED [OMIM:617601]
xref: DOID:0080237 {source="MONDO:equivalentTo"}
xref: MEDGEN:1618560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617601 {source="MONDO:equivalentTo", source="DOID:0080237"}
xref: UMLS:C4539851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618560"}
is_a: MONDO:0015802 {source="DOID:0080237", source="OMIM:617601"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0030912
name: intellectual disability, autosomal dominant 47
subset: gard_rare {source="GARD:17935", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:502434"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:502434"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 47" RELATED [DOID:0080238]
synonym: "autosomal dominant mental retardation 47" RELATED DEPRECATED [DOID:0080238]
synonym: "intellectual disability, autosomal dominant 47" EXACT [OMIM:617635]
synonym: "mental retardation, autosomal dominant 47" RELATED DEPRECATED [OMIM:617635]
synonym: "MRD47" RELATED DEPRECATED [OMIM:617635]
synonym: "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" EXACT [MONDO:0044716]
xref: DOID:0080238 {source="MONDO:equivalentTo"}
xref: GARD:17935 {source="MONDO:GARD"}
xref: MEDGEN:1622196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617635 {source="Orphanet:502434", source="MONDO:equivalentTo", source="DOID:0080238"}
xref: Orphanet:502434 {source="OMIM:617635", source="MONDO:equivalentTo"}
xref: UMLS:C4539951 {source="MEDGEN:1622196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:502434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015802 {source="DOID:0080238", source="OMIM:617635"} ! autosomal dominant non-syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:502434", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11354 {source="MONDO:0044716"} ! STAG1

[Term]
id: MONDO:0030913
name: intellectual disability, autosomal dominant 48
subset: gard_rare {source="GARD:17924", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500159"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:500159"}
subset: rare
synonym: "autosomal dominant intellectual disability 48" RELATED [DOID:0080235]
synonym: "autosomal dominant mental retardation 48" RELATED DEPRECATED [DOID:0080235]
synonym: "intellectual disability, autosomal dominant 48" EXACT [OMIM:617751]
synonym: "mental retardation, autosomal dominant 48" RELATED DEPRECATED [OMIM:617751]
synonym: "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom" RELATED [Orphanet:500159]
synonym: "MRD48" RELATED DEPRECATED [OMIM:617751]
xref: DOID:0080235 {source="MONDO:equivalentTo"}
xref: GARD:17924 {source="MONDO:GARD"}
xref: MEDGEN:1619532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617751 {source="Orphanet:500159", source="DOID:0080235", source="MONDO:equivalentTo"}
xref: Orphanet:500159 {source="MONDO:equivalentTo", source="OMIM:617751"}
xref: UMLS:C4540321 {source="MEDGEN:1619532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500159", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:500159"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0080235", source="OMIM:617751", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0030914
name: Clark-Baraitser syndrome
subset: gard_rare {source="GARD:9994", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:600731"}
subset: orphanet_rare {source="Orphanet:600731"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 49" RELATED [DOID:0080234]
synonym: "autosomal dominant mental retardation 49" RELATED DEPRECATED [DOID:0080234]
synonym: "Baraitser syndrome" RELATED [OMIM:300602]
synonym: "Clark-Baraitser syndrome" EXACT CLINGEN_LABEL [OMIM:300602]
synonym: "intellectual disability, autosomal dominant 49" EXACT [OMIM:617752]
synonym: "intellectual disability, tall stature, obesity, macrocephaly and typical facial features" RELATED [GARD:0009994]
synonym: "mental retardation, autosomal dominant 49" RELATED DEPRECATED [OMIM:617752]
synonym: "mental retardation, tall stature, obesity, macrocephaly and typical facial features" RELATED DEPRECATED [GARD:0009994]
synonym: "MRD49" EXACT DEPRECATED [OMIM:617752]
xref: DOID:0080234 {source="MONDO:equivalentTo"}
xref: GARD:9994 {source="MONDO:GARD"}
xref: MEDGEN:443983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536208 {source="MONDO:equivalentTo"}
xref: OMIM:300602 {source="MONDO:equivalentObsolete"}
xref: OMIM:617752 {source="MONDO:equivalentTo", source="DOID:0080234", source="MONDO:preferredExternal"}
xref: Orphanet:600731 {source="MONDO:equivalentTo"}
xref: UMLS:C2931130 {source="MONDO:equivalentTo", source="MEDGEN:443983", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MESH:C536208/inferred"} ! hereditary disease
is_a: MONDO:0015802 {source="DOID:0080234", source="OMIM:617752"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 {source="OMIM:617752"} ! Autosomal dominant inheritance
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome" xsd:anyURI {source="GARD:0009994"}

[Term]
id: MONDO:0030915
name: intellectual disability, autosomal recessive 61
def: "An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13." [DOID:0080239]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Alwadei syndrome" RELATED [OMIM:617773]
synonym: "autosomal recessive intellectual disability 61" RELATED [DOID:0080239]
synonym: "autosomal recessive mental retardation 61" RELATED DEPRECATED [DOID:0080239]
synonym: "intellectual disability, autosomal recessive 61" EXACT [OMIM:617773]
synonym: "mental retardation, autosomal recessive 61" RELATED DEPRECATED [OMIM:617773]
synonym: "MRT61" RELATED DEPRECATED [OMIM:617773]
xref: DOID:0080239 {source="MONDO:equivalentTo"}
xref: MEDGEN:1622296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617773 {source="MONDO:equivalentTo", source="DOID:0080239"}
xref: UMLS:C4540424 {source="MEDGEN:1622296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="DOID:0080239", source="OMIM:617773"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0030916
name: intellectual disability, autosomal dominant 50
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 50" RELATED [DOID:0080233]
synonym: "autosomal dominant mental retardation 50" RELATED DEPRECATED [DOID:0080233]
synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities" EXACT [OMIM:617787, OMIM:genemap2]
synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities" EXACT OMO:0003005 []
synonym: "intellectual disability, autosomal dominant 50" EXACT [OMIM:617787]
synonym: "mental retardation, autosomal dominant 50" RELATED DEPRECATED [OMIM:617787]
synonym: "MRD50" RELATED DEPRECATED [OMIM:617787]
xref: DOID:0080233 {source="MONDO:equivalentTo"}
xref: MEDGEN:1616989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617787 {source="DOID:0080233", source="MONDO:equivalentTo"}
xref: UMLS:C4540470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616989"}
is_a: MONDO:0015802 {source="DOID:0080233", source="OMIM:617787"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030917
name: intellectual disability, autosomal dominant 51
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 51" RELATED [DOID:0080232]
synonym: "autosomal dominant mental retardation 51" RELATED DEPRECATED [DOID:0080232]
synonym: "intellectual disability, autosomal dominant 51" EXACT [OMIM:617788]
synonym: "mental retardation, autosomal dominant 51" RELATED DEPRECATED [OMIM:617788]
synonym: "MRD51" RELATED DEPRECATED [OMIM:617788]
xref: DOID:0080232 {source="MONDO:equivalentTo"}
xref: MEDGEN:1625009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617788 {source="DOID:0080232", source="MONDO:equivalentTo"}
xref: UMLS:C4540474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625009"}
is_a: MONDO:0015802 {source="DOID:0080232", source="OMIM:617788"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0030918
name: intellectual disability, autosomal dominant 52
subset: gard_rare {source="GARD:16472", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 52" RELATED [DOID:0080231]
synonym: "autosomal dominant mental retardation 52" RELATED DEPRECATED [DOID:0080231]
synonym: "intellectual disability, autosomal dominant 52" EXACT [OMIM:617796]
synonym: "mental retardation, autosomal dominant 52" RELATED DEPRECATED [OMIM:617796]
synonym: "MRD52" RELATED DEPRECATED [OMIM:617796]
xref: DOID:0080231 {source="MONDO:equivalentTo"}
xref: EFO:0009152 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16472 {source="MONDO:GARD"}
xref: MEDGEN:1615839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617796 {source="DOID:0080231", source="MONDO:equivalentTo"}
xref: UMLS:C4540478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615839"}
is_a: MONDO:0015802 {source="DOID:0080231", source="OMIM:617796"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0030919
name: intellectual disability, autosomal dominant 53
subset: gard_rare {source="GARD:16473", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 53" RELATED [DOID:0080228]
synonym: "autosomal dominant mental retardation 53" RELATED DEPRECATED [DOID:0080228]
synonym: "intellectual disability, autosomal dominant 53" EXACT CLINGEN_LABEL [OMIM:617798]
synonym: "mental retardation, autosomal dominant 53" RELATED DEPRECATED [OMIM:617798]
synonym: "MRD53" RELATED DEPRECATED [OMIM:617798]
xref: DOID:0080228 {source="MONDO:equivalentTo"}
xref: EFO:0009165 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16473 {source="MONDO:GARD"}
xref: MEDGEN:1623344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617798 {source="MONDO:equivalentTo", source="DOID:0080228"}
xref: Orphanet:178469 {source="OMIM:617798"}
xref: UMLS:C4540481 {source="MONDO:equivalentTo", source="MEDGEN:1623344", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="DOID:0080228", source="OMIM:617798"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0030920
name: intellectual disability, autosomal dominant 54
subset: gard_rare {source="GARD:16474", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 54" RELATED [DOID:0080230]
synonym: "autosomal dominant mental retardation 54" RELATED DEPRECATED [DOID:0080230]
synonym: "intellectual disability, autosomal dominant 54" EXACT CLINGEN_LABEL [OMIM:617799]
synonym: "mental retardation, autosomal dominant 54" RELATED DEPRECATED [OMIM:617799]
synonym: "MRD54" RELATED DEPRECATED [OMIM:617799]
xref: DOID:0080230 {source="MONDO:equivalentTo"}
xref: GARD:16474 {source="MONDO:GARD"}
xref: MEDGEN:1614787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617799 {source="DOID:0080230", source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="OMIM:617799"}
xref: UMLS:C4540484 {source="MEDGEN:1614787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="DOID:0080230", source="OMIM:617799"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0030921
name: intellectual disability, autosomal dominant 55, with seizures
subset: gard_rare {source="GARD:16260", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant intellectual disability 55" RELATED [DOID:0080227]
synonym: "autosomal dominant mental retardation 55" RELATED DEPRECATED [DOID:0080227]
synonym: "intellectual disability, autosomal dominant 55, with seizures" EXACT [OMIM:617831]
synonym: "mental retardation, autosomal dominant 55, with seizures" RELATED DEPRECATED [OMIM:617831]
synonym: "MRD55" RELATED DEPRECATED [OMIM:617831]
xref: DOID:0080227 {source="MONDO:equivalentTo"}
xref: GARD:16260 {source="MONDO:GARD"}
xref: MEDGEN:1635938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617831 {source="MONDO:equivalentTo", source="DOID:0080227"}
xref: Orphanet:442835 {source="OMIM:617831", source="MONDO:relatedTo"}
xref: UMLS:C4693371 {source="MEDGEN:1635938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="DOID:0080227", source="OMIM:617831"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0030922
name: intellectual disability, autosomal dominant 56
subset: gard_rare {source="GARD:13524", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant intellectual disability 56" RELATED [DOID:0080226]
synonym: "autosomal dominant mental retardation 56" RELATED DEPRECATED [DOID:0080226]
synonym: "CLTC-related disorder" EXACT [PMID:37196051]
synonym: "CLTC-related ID" EXACT [PMID:37196051]
synonym: "CLTC-related intellectual disability" EXACT [PMID:37196051]
synonym: "intellectual disability, autosomal dominant 56" EXACT [OMIM:617854]
synonym: "mental retardation, autosomal dominant 56" RELATED DEPRECATED [OMIM:617854]
synonym: "MRD56" RELATED DEPRECATED [OMIM:617854]
xref: DOID:0080226 {source="MONDO:equivalentTo"}
xref: GARD:13524 {source="MONDO:GARD"}
xref: MEDGEN:1638835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617854 {source="MONDO:equivalentTo", source="DOID:0080226"}
xref: Orphanet:178469 {source="OMIM:617854"}
xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617854"}
xref: UMLS:C4693389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638835"}
is_a: MONDO:0015802 {source="DOID:0080226", source="OMIM:617854"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7248" xsd:anyURI

[Term]
id: MONDO:0030923
name: frontotemporal dementia and/or amyotrophic lateral sclerosis
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: OMIMPS:105500 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0024237 {source="OMIMPS:105500"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105500"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7766" xsd:anyURI

[Term]
id: MONDO:0030924
name: proteasome-associated autoinflammatory syndrome 5
subset: gard_rare {source="GARD:18448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PRAAS5" EXACT ABBREVIATION [OMIM:619175]
synonym: "proteasome-associated autoinflammatory syndrome 5" EXACT [OMIM:619175]
xref: DOID:0060919 {source="MONDO:equivalentTo"}
xref: GARD:18448 {source="MONDO:GARD"}
xref: MEDGEN:1779962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619175 {source="MONDO:equivalentTo"}
xref: UMLS:C5543027 {source="MONDO:equivalentTo", source="MEDGEN:1779962", source="MONDO:MEDGEN"}
is_a: MONDO:0009726 {source="OMIM:619175"} ! proteosome-associated autoinflammatory syndrome

[Term]
id: MONDO:0030925
name: oocyte maturation defect 10
subset: gard_rare {source="GARD:18500", source="MONDO:GARD"}
subset: rare
synonym: "oocyte maturation defect 10" EXACT [OMIM:619176]
synonym: "OOMD10" EXACT ABBREVIATION [OMIM:619176]
xref: GARD:18500 {source="MONDO:GARD"}
xref: MEDGEN:1766720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619176 {source="MONDO:equivalentTo"}
xref: UMLS:C5436938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1766720"}
is_a: MONDO:0014769 {source="OMIM:619176"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0030926
name: spermatogenic failure 51
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure 51" EXACT [OMIM:619177]
synonym: "SPGF51" EXACT ABBREVIATION [OMIM:619177]
xref: DOID:0112273 {source="MONDO:equivalentTo"}
xref: MEDGEN:1780365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619177 {source="MONDO:equivalentTo"}
xref: UMLS:C5543033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780365"}
is_a: MONDO:0004983 {source="OMIM:619177"} ! spermatogenic failure

[Term]
id: MONDO:0030927
name: myofibrillar myopathy 11
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MFM11" EXACT ABBREVIATION [OMIM:619178]
synonym: "myofibrillar myopathy 11" EXACT [OMIM:619178]
synonym: "myopathy, congenital, with eccentric cores" EXACT [OMIM:619178]
xref: DOID:0081338 {source="MONDO:equivalentTo"}
xref: MEDGEN:1782465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619178 {source="MONDO:equivalentTo"}
xref: UMLS:C5543038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782465"}
is_a: MONDO:0018943 {source="OMIM:619178"} ! myofibrillar myopathy

[Term]
id: MONDO:0030928
name: microcephaly 26, primary, autosomal dominant
subset: gard_rare {source="GARD:16432", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH26" EXACT ABBREVIATION [OMIM:619179]
synonym: "microcephaly 26, primary, autosomal dominant" EXACT [OMIM:619179]
xref: GARD:16432 {source="MONDO:GARD"}
xref: MEDGEN:1779629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619179 {source="MONDO:equivalentTo"}
xref: UMLS:C5543048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779629"}
is_a: MONDO:0007988 {source="OMIM:619179", source="https://orcid.org/0000-0001-5493-2602"} ! autosomal dominant primary microcephaly
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0016660 {source="OMIM:619179", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive primary microcephaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3738" xsd:anyURI

[Term]
id: MONDO:0030929
name: microcephaly 27, primary, autosomal dominant
subset: gard_rare {source="GARD:16433", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH27" EXACT ABBREVIATION [OMIM:619180]
synonym: "microcephaly 27, primary, autosomal dominant" EXACT [OMIM:619180]
xref: GARD:16433 {source="MONDO:GARD"}
xref: MEDGEN:1783457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619180 {source="MONDO:equivalentTo"}
xref: UMLS:C5543051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783457"}
is_a: MONDO:0007988 {source="OMIM:619180", source="https://orcid.org/0000-0001-5493-2602"} ! autosomal dominant primary microcephaly
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0016660 {source="OMIM:619180", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive primary microcephaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3738" xsd:anyURI

[Term]
id: MONDO:0030930
name: neurodevelopmental disorder with or without early-onset generalized epilepsy
subset: gard_rare {source="GARD:18539", source="MONDO:GARD"}
subset: rare
synonym: "NEDEGE" EXACT ABBREVIATION [OMIM:619157]
xref: GARD:18539 {source="MONDO:GARD"}
xref: MEDGEN:1737097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619157 {source="MONDO:equivalentTo"}
xref: UMLS:C5436914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1737097"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0030931
name: proteasome-associated autoinflammatory syndrome 4
subset: gard_rare {source="GARD:18449", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PRAAS4" EXACT ABBREVIATION [OMIM:619183]
synonym: "proteasome-associated autoinflammatory syndrome 4" EXACT [OMIM:619183]
xref: DOID:0060915 {source="MONDO:equivalentTo"}
xref: GARD:18449 {source="MONDO:GARD"}
xref: MEDGEN:1780127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619183 {source="MONDO:equivalentTo"}
xref: UMLS:C5543053 {source="MEDGEN:1780127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009726 {source="OMIM:619183"} ! proteosome-associated autoinflammatory syndrome

[Term]
id: MONDO:0030933
name: Joubert syndrome 37
subset: gard_rare {source="GARD:16434", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS37" EXACT ABBREVIATION [OMIM:619185]
synonym: "Joubert syndrome 37" EXACT [OMIM:619185]
xref: GARD:16434 {source="MONDO:GARD"}
xref: MEDGEN:1786742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619185 {source="MONDO:equivalentTo"}
xref: UMLS:C5543064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786742"}
is_a: MONDO:0018772 {source="OMIM:619185"} ! Joubert syndrome

[Term]
id: MONDO:0030934
name: intellectual developmental disorder, autosomal dominant 64
subset: gard_rare {source="GARD:16478", source="MONDO:GARD"}
subset: rare
synonym: "intellectual developmental disorder, autosomal dominant 64" EXACT [OMIM:619188]
synonym: "mental retardation, autosomal dominant 64" EXACT DEPRECATED [OMIM:619188]
synonym: "MRD64" EXACT ABBREVIATION [OMIM:619188]
xref: GARD:16478 {source="MONDO:GARD"}
xref: MEDGEN:1784554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619188 {source="MONDO:equivalentTo"}
xref: UMLS:C5543067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784554"}
is_a: MONDO:0100172 {source="OMIM:619188"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0030935
name: mitochondrial complex 2 deficiency, nuclear type 2
subset: gard_rare {source="GARD:16429", source="MONDO:GARD"}
subset: rare
synonym: "MC2DN2" EXACT ABBREVIATION [OMIM:619166]
synonym: "mitochondrial complex 2 deficiency, nuclear type 2" EXACT [OMIM:619166]
synonym: "mitochondrial complex II deficiency, nuclear type 2" EXACT [OMIM:619166, OMIM:genemap2]
xref: GARD:16429 {source="MONDO:GARD"}
xref: MEDGEN:1742371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619166 {source="MONDO:equivalentTo"}
xref: UMLS:C5436933 {source="MEDGEN:1742371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031230 {source="OMIM:619166"} ! mitochondrial complex II deficiency, nuclear type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030936
name: epilepsy, progressive myoclonic, 12
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, progressive myoclonic, 12" EXACT [OMIM:619191]
synonym: "EPM12" EXACT ABBREVIATION [OMIM:619191]
xref: MEDGEN:1778162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619191 {source="MONDO:equivalentTo"}
xref: UMLS:C5543069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778162"}
is_a: MONDO:0020074 {source="OMIM:619191"} ! progressive myoclonus epilepsy

[Term]
id: MONDO:0030937
name: mitochondrial complex 2 deficiency, nuclear type 3
subset: gard_rare {source="GARD:16430", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC2DN3" EXACT ABBREVIATION [OMIM:619167]
synonym: "mitochondrial complex 2 deficiency, nuclear type 3" EXACT [OMIM:619167]
synonym: "mitochondrial complex II deficiency, nuclear type 3" EXACT [OMIM:619167, OMIM:genemap2]
xref: GARD:16430 {source="MONDO:GARD"}
xref: MEDGEN:1751884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619167 {source="MONDO:equivalentTo"}
xref: UMLS:C5436934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1751884"}
is_a: MONDO:0031230 {source="OMIM:619167"} ! mitochondrial complex II deficiency, nuclear type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030938
name: spermatogenic failure 52
subset: gard_rare {source="GARD:16436", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spermatogenic failure 52" EXACT [OMIM:619202]
synonym: "SPGF52" EXACT ABBREVIATION [OMIM:619202]
xref: DOID:0112270 {source="MONDO:equivalentTo"}
xref: GARD:16436 {source="MONDO:GARD"}
xref: MEDGEN:1785685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619202 {source="MONDO:equivalentTo"}
xref: UMLS:C5543094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785685"}
is_a: MONDO:0004983 {source="OMIM:619202"} ! spermatogenic failure

[Term]
id: MONDO:0030939
name: premature ovarian failure 18
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF18" EXACT ABBREVIATION [OMIM:619203]
synonym: "premature ovarian failure 18" EXACT [OMIM:619203]
xref: DOID:0112269 {source="MONDO:equivalentTo"}
xref: MEDGEN:1785989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619203 {source="MONDO:equivalentTo"}
xref: UMLS:C5543095 {source="MEDGEN:1785989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019852 {source="OMIM:619203"} ! inherited primary ovarian failure

[Term]
id: MONDO:0030941
name: erythrokeratodermia variabilis et progressiva 7
subset: gard_rare {source="GARD:18674", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EKVP7" EXACT ABBREVIATION [OMIM:619209]
synonym: "erythrokeratodermia variabilis et progressiva 7" EXACT [OMIM:619209]
xref: GARD:18674 {source="MONDO:GARD"}
xref: MEDGEN:1780408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619209 {source="MONDO:equivalentTo"}
xref: UMLS:C5543106 {source="MEDGEN:1780408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017851 {source="OMIM:619209"} ! erythrokeratodermia variabilis

[Term]
id: MONDO:0030947
name: neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
subset: gard_rare {source="GARD:18023", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:610573"}
subset: orphanet_rare {source="Orphanet:610573"}
subset: rare
synonym: "CONRIBA" EXACT ABBREVIATION [OMIM:619173]
synonym: "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" EXACT [OMIM:619173, OMIM:genemap2]
xref: GARD:18023 {source="MONDO:GARD"}
xref: MEDGEN:1781967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619173 {source="MONDO:equivalentTo"}
xref: Orphanet:610573 {source="MONDO:equivalentTo"}
xref: UMLS:C5543020 {source="MEDGEN:1781967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030953
name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" BROAD [OMIM:619184, OMIM:genemap2]
synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" EXACT [OMIM:619184]
synonym: "SSFSC2" EXACT ABBREVIATION [OMIM:619184]
xref: DOID:0112358 {source="MONDO:equivalentTo"}
xref: MEDGEN:1782253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619184 {source="MONDO:equivalentTo"}
xref: UMLS:C5543057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782253"}
is_a: MONDO:0031439 {source="OMIM:619184"} ! short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030957
name: developmental and epileptic encephalopathy 103
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE103" EXACT ABBREVIATION [OMIM:619913]
synonym: "developmental and epileptic encephalopathy 103" EXACT [OMIM:619913]
xref: DOID:0070389 {source="MONDO:equivalentTo"}
xref: MEDGEN:1809962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619913 {source="MONDO:equivalentTo"}
xref: UMLS:C5677002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809962"}
is_a: MONDO:0100062 {source="OMIM:619913"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0030958
name: dystonia 35, childhood-onset
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dystonia 35, childhood-onset" EXACT [OMIM:619921]
synonym: "DYT35" EXACT ABBREVIATION [OMIM:619921]
xref: DOID:0060955 {source="MONDO:equivalentTo"}
xref: MEDGEN:1801185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619921 {source="MONDO:equivalentTo"}
xref: UMLS:C5677003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801185"}
is_a: MONDO:0044807 {source="OMIM:619921"} ! inherited dystonia

[Term]
id: MONDO:0030961
name: Olmsted syndrome 2
subset: gard_rare {source="GARD:16437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OLMS2" EXACT ABBREVIATION [OMIM:619208]
synonym: "Olmsted syndrome 2" EXACT [OMIM:619208]
synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2" EXACT [OMIM:619208]
xref: GARD:16437 {source="MONDO:GARD"}
xref: MEDGEN:1779902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619208 {source="MONDO:equivalentTo"}
xref: UMLS:C5543096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779902"}
is_a: MONDO:0031421 {source="OMIM:619208"} ! Olmsted syndrome

[Term]
id: MONDO:0030962
name: nephrotic syndrome, type 23
subset: gard_rare {source="GARD:16435", source="MONDO:GARD"}
subset: rare
synonym: "nephrotic syndrome, type 23" EXACT [OMIM:619201]
synonym: "NPHS23" EXACT ABBREVIATION [OMIM:619201]
xref: DOID:0112266 {source="MONDO:equivalentTo"}
xref: GARD:16435 {source="MONDO:GARD"}
xref: MEDGEN:1787011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619201 {source="MONDO:equivalentTo"}
xref: UMLS:C5543092 {source="MEDGEN:1787011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002350 {source="OMIM:619201"} ! familial nephrotic syndrome

[Term]
id: MONDO:0030963
name: Li-Campeau syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "LICAS" EXACT ABBREVIATION [OMIM:619189]
xref: MEDGEN:1788485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619189 {source="MONDO:equivalentTo"}
xref: UMLS:C5543068 {source="MEDGEN:1788485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030964
name: intellectual developmental disorder, autosomal dominant 67
synonym: "intellectual developmental disorder, autosomal dominant 67" EXACT [OMIM:619927]
synonym: "mental retardation, autosomal dominant 67" EXACT DEPRECATED [OMIM:619927]
synonym: "MRD67" EXACT ABBREVIATION [OMIM:619927]
xref: MEDGEN:1805690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619927 {source="MONDO:equivalentTo"}
xref: UMLS:C5677006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805690"}
is_a: MONDO:0100172 {source="OMIM:619927"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0030965
name: obsolete olmsted syndrome 2
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/3056" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0030966
name: neurofacioskeletal syndrome with or without renal agenesis
synonym: "Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis" EXACT [OMIM:619194]
synonym: "NFSRA" EXACT ABBREVIATION [OMIM:619194]
xref: MEDGEN:1778926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619194 {source="MONDO:equivalentTo"}
xref: UMLS:C5543070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778926"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030967
name: deafness, congenital, and adult-onset progressive leukoencephalopathy
synonym: "DEAPLE" EXACT ABBREVIATION [OMIM:619196]
xref: MEDGEN:1784506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619196 {source="MONDO:equivalentTo"}
xref: UMLS:C5543087 {source="MEDGEN:1784506", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030968
name: intellectual developmental disorder, autosomal recessive 76
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, autosomal recessive 76" EXACT [OMIM:619931]
synonym: "mental retardation, autosomal recessive 76" EXACT DEPRECATED [OMIM:619931]
synonym: "MRT76" EXACT ABBREVIATION [OMIM:619931]
xref: DOID:0081235 {source="MONDO:equivalentTo"}
xref: MEDGEN:1808571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619931 {source="MONDO:equivalentTo"}
xref: UMLS:C5677007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808571"}
is_a: MONDO:0019502 {source="OMIM:619931"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0030969
name: intellectual developmental disorder, autosomal dominant 68
synonym: "intellectual developmental disorder, autosomal dominant 68" EXACT [OMIM:619934]
synonym: "mental retardation, autosomal dominant 68" EXACT DEPRECATED [OMIM:619934]
synonym: "MRD68" EXACT ABBREVIATION [OMIM:619934]
xref: MEDGEN:1802176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619934 {source="MONDO:equivalentTo"}
xref: UMLS:C5677008 {source="MEDGEN:1802176", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="OMIM:619934"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0030970
name: immunodeficiency 106, susceptibility to viral infections
synonym: "IFNAR1 deficiency" EXACT [OMIM:619935]
synonym: "IMD106" EXACT ABBREVIATION [OMIM:619935]
synonym: "immunodeficiency 106, susceptibility to viral infections" EXACT [OMIM:619935]
xref: MEDGEN:1804672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619935 {source="MONDO:equivalentTo"}
xref: UMLS:C5677009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804672"}
is_a: MONDO:0021094 {source="OMIM:619935"} ! immunodeficiency disease

[Term]
id: MONDO:0030971
name: immunodeficiency 78 with autoimmunity and developmental delay
synonym: "IMD78" EXACT [OMIM:619220]
synonym: "immunodeficiency 78 with autoimmunity and developmental delay" EXACT [OMIM:619220]
synonym: "TPP2 deficiency" EXACT [OMIM:619220]
xref: MEDGEN:1785772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619220 {source="MONDO:equivalentTo"}
xref: UMLS:C5543159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785772"}
is_a: MONDO:0021094 {source="OMIM:619220"} ! immunodeficiency disease

[Term]
id: MONDO:0030972
name: spermatogenic failure 74
synonym: "spermatogenic failure 74" EXACT [OMIM:619937]
synonym: "SPGF74" EXACT ABBREVIATION [OMIM:619937]
xref: MEDGEN:1812069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619937 {source="MONDO:equivalentTo"}
xref: UMLS:C5677010 {source="MEDGEN:1812069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619937"} ! spermatogenic failure

[Term]
id: MONDO:0030973
name: immunodeficiency 77
synonym: "IMD77" EXACT ABBREVIATION [OMIM:619223]
synonym: "immunodeficiency 77" EXACT [OMIM:619223]
xref: MEDGEN:1788976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619223 {source="MONDO:equivalentTo"}
xref: UMLS:C5543173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788976"}
is_a: MONDO:0021094 {source="OMIM:619223"} ! immunodeficiency disease

[Term]
id: MONDO:0030974
name: mitochondrial complex 2 deficiency, nuclear type 4
subset: gard_rare {source="GARD:16438", source="MONDO:GARD"}
subset: rare
synonym: "MC2DN4" EXACT [OMIM:619224]
synonym: "mitochondrial complex 2 deficiency, nuclear type 4" EXACT [OMIM:619224]
synonym: "mitochondrial complex II deficiency, nuclear type 4" EXACT [OMIM:619224, OMIM:genemap2]
xref: GARD:16438 {source="MONDO:GARD"}
xref: MEDGEN:1782861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619224 {source="MONDO:equivalentTo"}
xref: UMLS:C5543176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782861"}
is_a: MONDO:0031230 {source="OMIM:619224"} ! mitochondrial complex II deficiency, nuclear type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030975
name: premature ovarian failure 20
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF20" EXACT ABBREVIATION [OMIM:619938]
synonym: "premature ovarian failure 20" EXACT [OMIM:619938]
xref: MEDGEN:1808256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619938 {source="MONDO:equivalentTo"}
xref: UMLS:C5677011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808256"}
is_a: MONDO:0019852 {source="OMIM:619938"} ! inherited primary ovarian failure

[Term]
id: MONDO:0030976
name: oculomotor-abducens synkinesis
synonym: "OCABSN" EXACT ABBREVIATION [OMIM:619215]
xref: MEDGEN:1789067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619215 {source="MONDO:equivalentTo"}
xref: UMLS:C5543116 {source="MEDGEN:1789067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030977
name: neuronopathy, distal hereditary motor, autosomal recessive 7
subset: gard_rare {source="GARD:18444", source="MONDO:GARD"}
subset: rare
synonym: "HMNMYO" EXACT ABBREVIATION [OMIM:619216]
synonym: "neuropathy, hereditary motor, with myopathic features" EXACT [OMIM:619216]
xref: DOID:0081426 {source="MONDO:equivalentTo"}
xref: GARD:18444 {source="MONDO:GARD"}
xref: MEDGEN:1786836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619216 {source="MONDO:equivalentTo"}
xref: UMLS:C5543119 {source="MEDGEN:1786836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015363 {source="OMIM:619216"} ! neuronopathy, distal hereditary motor, autosomal recessive

[Term]
id: MONDO:0030978
name: endove syndrome, limb-only type
subset: gard_rare {source="GARD:18560", source="MONDO:GARD"}
subset: rare
synonym: "ENDOVESL" EXACT ABBREVIATION [OMIM:619217]
synonym: "Mesomelia of Lower Extremities With Hand and Foot Anomalies" EXACT [OMIM:619217]
xref: GARD:18560 {source="MONDO:GARD"}
xref: MEDGEN:1787128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619217 {source="MONDO:equivalentTo"}
xref: UMLS:C5543128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787128"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030979
name: endove syndrome, limb-brain type
subset: gard_rare {source="GARD:18561", source="MONDO:GARD"}
subset: rare
synonym: "ENDOVESLB" EXACT ABBREVIATION [OMIM:619218]
synonym: "Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies" EXACT [OMIM:619218]
xref: GARD:18561 {source="MONDO:GARD"}
xref: MEDGEN:1782954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619218 {source="MONDO:equivalentTo"}
xref: UMLS:C5543142 {source="MEDGEN:1782954", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030981
name: immunodeficiency 79
subset: gard_rare {source="GARD:9523", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CD4 Deficiency" EXACT [OMIM:619238]
synonym: "IMD79" EXACT [OMIM:619238]
synonym: "immunodeficiency 79" EXACT [OMIM:619238]
xref: DOID:0112277 {source="MONDO:equivalentTo"}
xref: GARD:9523 {source="MONDO:GARD"}
xref: MEDGEN:1783683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619238 {source="MONDO:equivalentTo"}
xref: UMLS:C5543220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783683"}
is_a: MONDO:0015974 {source="DOID:0060018"} ! severe combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:619238"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5062" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency" xsd:anyURI {source="GARD:0009523"}

[Term]
id: MONDO:0030982
name: sulfide quinone oxidoreductase deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SQORD" EXACT ABBREVIATION [OMIM:619221]
synonym: "sulfide:quinone oxidoreductase deficiency" EXACT [OMIM:619221]
xref: MEDGEN:1780603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619221 {source="MONDO:equivalentTo"}
xref: UMLS:C5543168 {source="MEDGEN:1780603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019052 {source="OMIM:619221"} ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0070224 ! sulfide:quinone oxidoreductase activity

[Term]
id: MONDO:0030983
name: Waardenburg syndrome, IIa 2F
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Waardenburg syndrome, IIa 2F" EXACT [OMIM:619947]
synonym: "WS2F" EXACT ABBREVIATION [OMIM:619947]
xref: MEDGEN:1809587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619947 {source="MONDO:equivalentTo"}
xref: UMLS:C5677013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809587"}
is_a: MONDO:0018094 {source="OMIM:619947"} ! Waardenburg syndrome

[Term]
id: MONDO:0030984
name: spermatogenic failure 75
synonym: "spermatogenic failure 75" EXACT [OMIM:619949]
synonym: "SPGF75" EXACT ABBREVIATION [OMIM:619949]
xref: MEDGEN:1804291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619949 {source="MONDO:equivalentTo"}
xref: UMLS:C5677014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804291"}
is_a: MONDO:0004983 {source="OMIM:619949"} ! spermatogenic failure

[Term]
id: MONDO:0030985
name: premature ovarian failure 19
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF19" EXACT [OMIM:619245]
synonym: "premature ovarian failure 19" EXACT [OMIM:619245]
xref: DOID:0112278 {source="MONDO:equivalentTo"}
xref: MEDGEN:1779702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619245 {source="MONDO:equivalentTo"}
xref: UMLS:C5543229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779702"}
is_a: MONDO:0019852 {source="OMIM:619245"} ! inherited primary ovarian failure

[Term]
id: MONDO:0030986
name: blistering, acantholytic, of oral and laryngeal mucosa
synonym: "ABOLM" EXACT ABBREVIATION [OMIM:619226]
xref: MEDGEN:1785588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619226 {source="MONDO:equivalentTo"}
xref: UMLS:C5543184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785588"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030987
name: vertebral, cardiac, tracheoesophageal, renal, and limb defects
synonym: "VCTERL" EXACT ABBREVIATION [OMIM:619227]
synonym: "VCTERL syndrome" EXACT [OMIM:619227]
xref: MEDGEN:1788069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619227 {source="MONDO:equivalentTo"}
xref: UMLS:C5543189 {source="MONDO:equivalentTo", source="MEDGEN:1788069", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030988
name: developmental delay with dysmorphic facies and dental anomalies
synonym: "DEFDA" EXACT ABBREVIATION [OMIM:619228]
xref: MEDGEN:1785587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619228 {source="MONDO:equivalentTo"}
xref: UMLS:C5543197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785587"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030989
name: spermatogenic failure 53
synonym: "spermatogenic failure 53" EXACT [OMIM:619258]
synonym: "SPGF53" EXACT [OMIM:619258]
xref: DOID:0112279 {source="MONDO:equivalentTo"}
xref: MEDGEN:1787013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619258 {source="MONDO:equivalentTo"}
xref: UMLS:C5543253 {source="MONDO:equivalentTo", source="MEDGEN:1787013", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:619258"} ! spermatogenic failure

[Term]
id: MONDO:0030990
name: Kohlschutter-Tonz syndrome-like
synonym: "KTZSL" EXACT ABBREVIATION [OMIM:619229]
xref: MEDGEN:1781649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619229 {source="MONDO:equivalentTo"}
xref: UMLS:C5543202 {source="MEDGEN:1781649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030991
name: bile acid conjugation defect 1
subset: otar {source="MONDO:OTAR"}
synonym: "BACD1" EXACT ABBREVIATION [OMIM:619232]
xref: MEDGEN:1780260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619232 {source="MONDO:equivalentTo"}
xref: UMLS:C5543203 {source="MEDGEN:1780260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030992
name: short stature, oligodontia, dysmorphic facies, and motor delay
synonym: "SOFM" EXACT ABBREVIATION [OMIM:619234]
xref: MEDGEN:1787876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619234 {source="MONDO:equivalentTo"}
xref: UMLS:C5543206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787876"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030993
name: Tessadori-Van Haaften neurodevelopmental syndrome 3
synonym: "Tessadori-Van Haaften neurodevelopmental syndrome 3" EXACT [OMIM:619950]
synonym: "TEVANED3" EXACT ABBREVIATION [OMIM:619950]
xref: MEDGEN:1824083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619950 {source="MONDO:equivalentTo"}
xref: UMLS:C5774310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824083"}
is_a: MONDO:0031400 {source="OMIM:619950"} ! Tessadori-Van-Haaften neurodevelopmental syndrome

[Term]
id: MONDO:0030994
name: neurodevelopmental disorder with or without autism or seizures
subset: gard_rare {source="GARD:18540", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDAUS" EXACT ABBREVIATION [OMIM:619239]
synonym: "neurodevelopmental disorder with or without autism or seizures" EXACT CLINGEN_LABEL []
xref: GARD:18540 {source="MONDO:GARD"}
xref: MEDGEN:1784023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619239 {source="MONDO:equivalentTo"}
xref: UMLS:C5543225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784023"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0030995
name: global developmental delay with speech and behavioral abnormalities
subset: gard_rare {source="GARD:18541", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GDSBA" EXACT ABBREVIATION [OMIM:619243]
xref: GARD:18541 {source="MONDO:GARD"}
xref: MEDGEN:1787991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619243 {source="MONDO:equivalentTo"}
xref: UMLS:C5543226 {source="MEDGEN:1787991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0030996
name: bleeding disorder, platelet-type, 24
subset: gard_rare {source="GARD:18273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT24" EXACT [OMIM:619271]
synonym: "bleeding disorder, platelet-type, 24" EXACT [OMIM:619271]
synonym: "bleeding disorder, platelet-type, 24, autosomal dominant" EXACT [OMIM:619271, OMIM:genemap2]
synonym: "Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2" EXACT [OMIM:619271]
xref: GARD:18273 {source="MONDO:GARD"}
xref: MEDGEN:1785711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619271 {source="MONDO:equivalentTo"}
xref: UMLS:C5543280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785711"}
is_a: MONDO:0000009 {source="OMIM:619271"} ! inherited bleeding disorder, platelet-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030997
name: mitochondrial complex 1 deficiency, nuclear type 37
subset: gard_rare {source="GARD:16440", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN37" EXACT [OMIM:619272]
synonym: "mitochondrial complex 1 deficiency, nuclear type 37" EXACT [OMIM:619272]
synonym: "mitochondrial complex I deficiency, nuclear type 37" EXACT [OMIM:619272, OMIM:genemap2]
xref: GARD:16440 {source="MONDO:GARD"}
xref: MEDGEN:1783339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619272 {source="MONDO:equivalentTo"}
xref: UMLS:C5543281 {source="MEDGEN:1783339", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100223 {source="OMIM:619272"} ! mitochondrial complex I deficiency, nuclear type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0030998
name: hearing loss, autosomal dominant 80
subset: gard_rare {source="GARD:18158", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal dominant 80" NARROW [OMIM:619274, OMIM:genemap2]
synonym: "DFNA80" NARROW [OMIM:619274]
xref: GARD:18158 {source="MONDO:GARD"}
xref: MEDGEN:1779667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619274 {source="MONDO:equivalentTo"}
xref: UMLS:C5543289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779667"}
is_a: MONDO:0019587 {source="OMIM:619274"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0030999
name: neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
subset: gard_rare {source="GARD:18542", source="MONDO:GARD"}
subset: rare
synonym: "NEDCAFD" EXACT ABBREVIATION [OMIM:619244]
xref: GARD:18542 {source="MONDO:GARD"}
xref: MEDGEN:1786662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619244 {source="MONDO:equivalentTo"}
xref: UMLS:C5543228 {source="MEDGEN:1786662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0031000
name: Tessadori-Van Haaften neurodevelopmental syndrome 4
synonym: "Tessadori-Van Haaften neurodevelopmental syndrome 4" EXACT [OMIM:619951]
synonym: "TEVANED4" EXACT ABBREVIATION [OMIM:619951]
xref: MEDGEN:1804234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619951 {source="MONDO:equivalentTo"}
xref: UMLS:C5677016 {source="MEDGEN:1804234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031400 {source="OMIM:619951"} ! Tessadori-Van-Haaften neurodevelopmental syndrome

[Term]
id: MONDO:0031001
name: vitreoretinopathy with phalangeal epiphyseal dysplasia
subset: otar {source="MONDO:OTAR"}
synonym: "VPED" EXACT ABBREVIATION [OMIM:619248]
xref: MEDGEN:343940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619248 {source="MONDO:equivalentTo"}
xref: UMLS:C1852989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343940"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0031002
name: Baralle-Macken syndrome
synonym: "BARMACS" EXACT ABBREVIATION [OMIM:619255]
synonym: "neurodevelopmental disorder with cataracts and variable microcephaly" EXACT [OMIM:619255]
xref: MEDGEN:1778777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619255 {source="MONDO:equivalentTo"}
xref: UMLS:C5543241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778777"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0031003
name: hypercholanemia, familial, 2
subset: gard_rare {source="GARD:18341", source="MONDO:GARD"}
subset: rare
synonym: "FHCA2" EXACT ABBREVIATION [OMIM:619256]
synonym: "hypercholanemia, familial 2" EXACT [OMIM:619256, OMIM:genemap2]
synonym: "NTCP Deficiency" EXACT [OMIM:619256]
xref: GARD:18341 {source="MONDO:GARD"}
xref: MEDGEN:1780531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619256 {source="MONDO:equivalentTo"}
xref: UMLS:C5543243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780531"}
is_a: MONDO:0100327 {source="OMIM:619256"} ! hypercholanemia, familial
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0031004
name: obsolete genetic disorder of sex development of gynecological interest
subset: ordo_group_of_disorders {source="Orphanet:325665"}
xref: GARD:21480 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325665 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0002259

[Term]
id: MONDO:0031006
name: neurodegeneration with ataxia and late-onset optic atrophy
synonym: "NDAXOA" EXACT ABBREVIATION [OMIM:619259]
xref: MEDGEN:1779901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619259 {source="MONDO:equivalentTo"}
xref: UMLS:C5543254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779901"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0031007
name: spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
subset: gard_rare {source="GARD:18025", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:611207"}
subset: orphanet_rare {source="Orphanet:611207"}
subset: rare
synonym: "SHILCA" EXACT ABBREVIATION [OMIM:619260]
synonym: "SHILCA syndrome" EXACT [OMIM:619260, Orphanet:611207]
synonym: "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" EXACT [OMIM:619260, OMIM:genemap2]
xref: DOID:0112290 {source="MONDO:equivalentTo"}
xref: GARD:18025 {source="MONDO:GARD"}
xref: MEDGEN:1780157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619260 {source="MONDO:equivalentTo"}
xref: Orphanet:611207 {source="MONDO:equivalentTo"}
xref: UMLS:C5543257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780157"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0800101 {source="https://clinicalgenome.org/affiliation/40072/"} ! NMNAT1-related retinopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI

[Term]
id: MONDO:0031008
name: nephrotic syndrome, type 24
subset: gard_rare {source="GARD:18003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:567548"}
subset: orphanet_rare {source="Orphanet:567548"}
subset: rare
synonym: "idiopathic SRNS" EXACT [Orphanet:567548]
synonym: "idiopathic steroid-resistant nephrotic syndrome" EXACT [Orphanet:567548]
synonym: "NPHS24" EXACT ABBREVIATION [OMIM:619263]
xref: GARD:18003 {source="MONDO:GARD"}
xref: MEDGEN:1781068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619263 {source="MONDO:equivalentTo"}
xref: Orphanet:567548 {source="MONDO:equivalentTo"}
xref: UMLS:C5543267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781068"}
is_a: MONDO:0005377 {source="OMIM:619263"} ! nephrotic syndrome

[Term]
id: MONDO:0031009
name: Glanzmann thrombasthenia 2
subset: gard_rare {source="GARD:16439", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "bleeding disorder, platelet-type, 23" EXACT [OMIM:619267]
synonym: "Glanzmann thrombasthenia 2" EXACT CLINGEN_LABEL []
synonym: "GT2" EXACT ABBREVIATION [OMIM:619267]
xref: GARD:16439 {source="MONDO:GARD"}
xref: MEDGEN:1782592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619267 {source="MONDO:equivalentTo"}
xref: UMLS:C5543273 {source="MEDGEN:1782592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="OMIM:619267"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0100326 {source="OMIM:619267"} ! Glanzmann thrombasthenia

[Term]
id: MONDO:0031010
name: odontochondrodysplasia 2 with hearing loss and diabetes
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ODCD2" EXACT ABBREVIATION [OMIM:619269]
synonym: "ondontochondrodysplasia 2 with hearing loss and diabetes" EXACT [OMIM:619269, OMIM:genemap2]
xref: MEDGEN:1782909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619269 {source="MONDO:equivalentTo"}
xref: UMLS:C5543275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782909"}
is_a: MONDO:0031169 {source="OMIM:619269"} ! odontochondrodysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0031011
name: neurodevelopmental disorder with dysmorphic facies and variable seizures
subset: gard_rare {source="GARD:18543", source="MONDO:GARD"}
subset: rare
synonym: "NEDDFAS" EXACT ABBREVIATION [OMIM:619264]
xref: GARD:18543 {source="MONDO:GARD"}
xref: MEDGEN:1784197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619264 {source="MONDO:equivalentTo"}
xref: UMLS:C5543268 {source="MONDO:equivalentTo", source="MEDGEN:1784197", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0031012
name: autoimmune uveitis
def: "An autoimmune form of uveitis (disease)." [MONDO:patterns/autoimmune]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "autoimmune uveitis (disease)" EXACT []
xref: DOID:0040088 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3888523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843501"}
is_a: MONDO:0000587 {source="DOID:0040088"} ! autoimmune disease of ear, nose and throat
is_a: MONDO:0002661 {source="DOID:0040088", source="MONDO:indirect"} ! uveal disorder
intersection_of: MONDO:0020283 ! uveitis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0031013
name: autoimmune optic neuritis
def: "An autoimmune form of optic neuritis." [MONDO:patterns/autoimmune]
xref: DOID:0040089 {source="MONDO:equivalentTo"}
is_a: MONDO:0000590 {source="DOID:0040089"} ! autoimmune disorder of peripheral nervous system
intersection_of: MONDO:0005885 ! optic neuritis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0031014
name: autoimmune gastritis
def: "Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma." [NCIT:C95752]
synonym: "autoimmune gastritis (disease)" EXACT []
xref: DOID:0040090 {source="MONDO:equivalentTo"}
xref: MEDGEN:854482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C95752 {source="MONDO:equivalentTo"}
xref: UMLS:C3887639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854482"}
is_a: MONDO:0000588 {source="DOID:0040090", source="MONDO:Redundant"} ! autoimmune disorder of gastrointestinal tract
is_a: MONDO:0004298 {source="DOID:0040090", source="NCIT:C95752/inferred"} ! stomach disorder
intersection_of: MONDO:0004966 ! gastritis
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0031016
name: obsolete genetic disorder of sex development
subset: ordo_group_of_disorders {source="Orphanet:325690"}
xref: GARD:21481 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325690 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0002259

[Term]
id: MONDO:0031019
name: spastic paraplegia 87, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631088"}
subset: orphanet_rare {source="Orphanet:631088"}
subset: rare
synonym: "autosomal recessive spastic paraplegia type 87" EXACT [MONDO:0858992]
synonym: "spastic paraplegia 87, autosomal recessive" EXACT [OMIM:619966]
synonym: "SPG87" EXACT ABBREVIATION [OMIM:619966]
xref: DOID:0070456 {source="MONDO:equivalentTo"}
xref: MEDGEN:1813069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619966 {source="MONDO:equivalentTo"}
xref: Orphanet:631088 {source="MONDO:equivalentTo"}
xref: UMLS:C5774182 {source="MEDGEN:1813069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:619966", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0031021
name: developmental and epileptic encephalopathy 104
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE104" EXACT ABBREVIATION [OMIM:619970]
synonym: "developmental and epileptic encephalopathy 104" EXACT [OMIM:619970]
xref: DOID:0070390 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619970 {source="MONDO:equivalentTo"}
xref: UMLS:C5774183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823956"}
is_a: MONDO:0100062 {source="OMIM:619970"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0031028
name: developmental and epileptic encephalopathy 105 with hypopituitarism
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE105" EXACT ABBREVIATION [OMIM:619983]
synonym: "developmental and epileptic encephalopathy 105 with hypopituitarism" EXACT [OMIM:619983]
xref: DOID:0070391 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619983 {source="MONDO:equivalentTo"}
xref: UMLS:C5774190 {source="MEDGEN:1823963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:619983"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0031030
name: immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
synonym: "IMD107" EXACT ABBREVIATION [OMIM:619986]
synonym: "immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection" EXACT [OMIM:619986]
xref: MEDGEN:1823965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619986 {source="MONDO:equivalentTo"}
xref: UMLS:C5774192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823965"}
is_a: MONDO:0021094 {source="OMIM:619986"} ! immunodeficiency disease

[Term]
id: MONDO:0031031
name: intellectual developmental disorder, autosomal recessive 77
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, autosomal recessive 77" EXACT [OMIM:619988]
synonym: "MRT77" EXACT ABBREVIATION [OMIM:619988]
xref: DOID:0081236 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619988 {source="MONDO:equivalentTo"}
xref: UMLS:C5774193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823966"}
is_a: MONDO:0019502 {source="OMIM:619988"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0031037
name: famililal cerebral cavernous malformations
def: "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." [Orphanet:221061]
subset: gard_rare {source="GARD:13641", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:221061"}
subset: ordo_malformation_syndrome {source="Orphanet:221061"}
subset: orphanet_rare {source="Orphanet:221061"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cavernous angioma, familial" RELATED [OMIM:116860]
synonym: "cavernous angiomatous malformations" RELATED [OMIM:116860]
synonym: "cavernous malformations of CNS and retina" RELATED [OMIM:116860]
synonym: "CCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:116860]
synonym: "cerebral capillary malformations" RELATED [OMIM:116860]
synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical, OMIM:116860]
synonym: "familial brain cavernous angioma" EXACT [Orphanet:221061]
synonym: "familial brain cavernous hemangioma" EXACT [Orphanet:221061]
synonym: "familial cerebral cavernoma" EXACT [Orphanet:221061]
synonym: "familial cerebral cavernous malformation" EXACT [MONDO:0007291]
synonym: "famililal cerebral cavernous malformations" EXACT CLINGEN_LABEL []
synonym: "hereditary brain cavernous angioma" EXACT [Orphanet:221061]
synonym: "hereditary brain cavernous hemangioma" EXACT [Orphanet:221061]
synonym: "hereditary cerebral cavernoma" EXACT [Orphanet:221061]
synonym: "hereditary cerebral cavernous malformation" EXACT [MONDO:patterns/hereditary, Orphanet:221061]
synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860]
xref: GARD:13641 {source="MONDO:GARD"}
xref: ICD10CM:Q28.3 {source="Orphanet:221061/attributed", source="Orphanet:221061/ntbt", source="Orphanet:221061"}
xref: MEDGEN:419031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:116860 {source="MONDO:equivalentTo"}
xref: Orphanet:221061 {source="OMIM:116860", source="MONDO:equivalentTo"}
xref: SCTID:717003001 {source="MONDO:equivalentTo"}
xref: UMLS:C2931263 {source="MEDGEN:419031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000820 {source="DC-OMIM:116860", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIMPS:116860"} ! cerebral cavernous malformation
is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:221061/inferred"} ! hereditary disease
intersection_of: MONDO:0000820 ! cerebral cavernous malformation
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:116860"} ! inherited

[Term]
id: MONDO:0031040
name: cholestasis, progressive familial intrahepatic, 12
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cholestasis, isolated low-ggt" EXACT [OMIM:620010]
synonym: "cholestasis, progressive familial intrahepatic, 12" EXACT [OMIM:620010]
synonym: "PFIC12" EXACT ABBREVIATION [OMIM:620010]
xref: MEDGEN:1824084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620010 {source="MONDO:equivalentTo"}
xref: UMLS:C5774311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824084"}
is_a: MONDO:0015762 {source="OMIM:620010"} ! progressive familial intrahepatic cholestasis

[Term]
id: MONDO:0031043
name: lymphatic malformation 12
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "central conducting lymphatic anomaly" EXACT [OMIM:620014]
synonym: "LMPHM12" EXACT ABBREVIATION [OMIM:620014]
synonym: "lymphatic malformation 12" EXACT [OMIM:620014]
xref: DOID:0081030 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620014 {source="MONDO:equivalentTo"}
xref: UMLS:C5774203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823976"}
is_a: MONDO:0019313 {source="OMIM:620014"} ! lymphatic malformation

[Term]
id: MONDO:0031044
name: advance sleep phase syndrome, familial, 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "advance sleep phase syndrome, familial, 4" EXACT [OMIM:620015]
synonym: "FASPS4" EXACT ABBREVIATION [OMIM:620015]
xref: MEDGEN:1823977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620015 {source="MONDO:equivalentTo"}
xref: UMLS:C5774204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823977"}
is_a: MONDO:0015609 {source="OMIM:620015"} ! advanced sleep phase syndrome

[Term]
id: MONDO:0031045
name: arthrogryposis, distal, IIa 11
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arthrogryposis, distal, IIa 11" EXACT [OMIM:620019]
synonym: "DA11" EXACT ABBREVIATION [OMIM:620019]
xref: MEDGEN:1823978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620019 {source="MONDO:equivalentTo"}
xref: UMLS:C5774205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823978"}
is_a: MONDO:0019942 {source="OMIM:620019"} ! distal arthrogryposis

[Term]
id: MONDO:0031047
name: stickler syndrome, IIa 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "stickler syndrome, IIa 6" EXACT [OMIM:620022]
synonym: "STL6" EXACT ABBREVIATION [OMIM:620022]
xref: MEDGEN:1823980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620022 {source="MONDO:equivalentTo"}
xref: UMLS:C5774207 {source="MEDGEN:1823980", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019354 {source="OMIM:620022"} ! Stickler syndrome

[Term]
id: MONDO:0031052
name: developmental and epileptic encephalopathy 106
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE106" EXACT ABBREVIATION [OMIM:620028]
synonym: "developmental and epileptic encephalopathy 106" EXACT [OMIM:620028]
xref: DOID:0070392 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620028 {source="MONDO:equivalentTo"}
xref: UMLS:C5774212 {source="MEDGEN:1823985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:620028"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0031054
name: ciliary dyskinesia, primary, 48, without situs inversus
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD48" EXACT ABBREVIATION [OMIM:620032]
synonym: "ciliary dyskinesia, primary, 48, without situs inversus" EXACT [OMIM:620032]
xref: MEDGEN:1823987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620032 {source="MONDO:equivalentTo"}
xref: UMLS:C5774214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823987"}
is_a: MONDO:0016575 {source="OMIM:620032"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0031055
name: developmental and epileptic encephalopathy 107
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE107" EXACT ABBREVIATION [OMIM:620033]
synonym: "developmental and epileptic encephalopathy 107" EXACT [OMIM:620033]
xref: DOID:0070393 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620033 {source="MONDO:equivalentTo"}
xref: UMLS:C5774215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823988"}
is_a: MONDO:0100062 {source="OMIM:620033"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0031057
name: dyskeratosis congenita, digenic
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DKCD" EXACT ABBREVIATION [OMIM:620040]
synonym: "dyskeratosis congenita, digenic" EXACT [OMIM:620040]
xref: MEDGEN:1823990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620040 {source="MONDO:equivalentTo"}
xref: UMLS:C5774217 {source="MEDGEN:1823990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015780 {source="OMIM:620040"} ! dyskeratosis congenita

[Term]
id: MONDO:0031060
name: microcephaly 29, primary, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH29" EXACT ABBREVIATION [OMIM:620047]
synonym: "microcephaly 29, primary, autosomal recessive" EXACT [OMIM:620047]
xref: MEDGEN:1823993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620047 {source="MONDO:equivalentTo"}
xref: UMLS:C5774220 {source="MEDGEN:1823993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="OMIM:620047"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0031061
name: nephrotic syndrome, IIa 26
subset: otar {source="MONDO:OTAR"}
synonym: "nephrotic syndrome, IIa 26" EXACT [OMIM:620049]
synonym: "NPHS26" EXACT ABBREVIATION [OMIM:620049]
xref: MEDGEN:1823994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620049 {source="MONDO:equivalentTo"}
xref: UMLS:C5774221 {source="MEDGEN:1823994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002350 {source="OMIM:620049"} ! familial nephrotic syndrome

[Term]
id: MONDO:0031062
name: polycystic kidney disease 7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PKD7" EXACT ABBREVIATION [OMIM:620056]
synonym: "polycystic kidney disease 7" EXACT [OMIM:620056]
xref: DOID:0060952 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620056 {source="MONDO:equivalentTo"}
xref: UMLS:C5774222 {source="MONDO:equivalentTo", source="MEDGEN:1823995", source="MONDO:MEDGEN"}
is_a: MONDO:0020642 {source="OMIM:620056"} ! polycystic kidney disease

[Term]
id: MONDO:0031068
name: Charcot-Marie-Tooth disease, axonal, IIa 2II
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "charcot-marie-tooth disease, axonal, IIa 2II" EXACT [OMIM:620068]
synonym: "charcot-marie-tooth neuropathy, IIa 2II" EXACT [OMIM:620068]
synonym: "CMT2II" EXACT ABBREVIATION [OMIM:620068]
xref: MEDGEN:1824000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620068 {source="MONDO:equivalentTo"}
xref: UMLS:C5774227 {source="MEDGEN:1824000", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="OMIM:620068"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0031071
name: Diamond-Blackfan anemia 21
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA21" EXACT ABBREVIATION [OMIM:620072]
synonym: "diamond-blackfan anaemia 21" EXACT OMO:0003005 []
synonym: "diamond-blackfan anemia 21" EXACT [OMIM:620072]
xref: MEDGEN:1824003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620072 {source="MONDO:equivalentTo"}
xref: UMLS:C5774230 {source="MEDGEN:1824003", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015253 {source="OMIM:620072"} ! Diamond-Blackfan anemia

[Term]
id: MONDO:0031077
name: spermatogenic failure 76
synonym: "spermatogenic failure 76" EXACT [OMIM:620084]
synonym: "SPGF76" EXACT ABBREVIATION [OMIM:620084]
xref: MEDGEN:1824009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620084 {source="MONDO:equivalentTo"}
xref: UMLS:C5774236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824009"}
is_a: MONDO:0004983 {source="OMIM:620084"} ! spermatogenic failure

[Term]
id: MONDO:0031083
name: spermatogenic failure 77
synonym: "spermatogenic failure 77" EXACT [OMIM:620103]
synonym: "SPGF77" EXACT ABBREVIATION [OMIM:620103]
xref: MEDGEN:1824018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620103 {source="MONDO:equivalentTo"}
xref: UMLS:C5774245 {source="MEDGEN:1824018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:620103"} ! spermatogenic failure

[Term]
id: MONDO:0031084
name: amelogenesis imperfecta, IIa 1K
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AI1K" EXACT ABBREVIATION [OMIM:620104]
synonym: "amelogenesis imperfecta, hypoplastic IIa 1K" EXACT [OMIM:620104]
synonym: "amelogenesis imperfecta, IIa 1K" EXACT [OMIM:620104]
xref: DOID:0060945 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620104 {source="MONDO:equivalentTo"}
xref: UMLS:C5774246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824019"}
is_a: MONDO:0019507 {source="OMIM:620104"} ! amelogenesis imperfecta

[Term]
id: MONDO:0031115
name: dyskinesia with orofacial involvement
xref: OMIMPS:606703 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:606703"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:606703"} ! inherited

[Term]
id: MONDO:0031166
name: macular dystrophy, retinal
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0070438 {source="MONDO:equivalentTo"}
xref: OMIMPS:136550 {source="MONDO:equivalentTo"}
is_a: MONDO:0020242 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary macular dystrophy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:136550"} ! inherited

[Term]
id: MONDO:0031169
name: odontochondrodysplasia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:411198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:184260 {source="MONDO:equivalentTo"}
xref: UMLS:C2745953 {source="MEDGEN:411198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="Orphanet:166272"} ! spondylometaphyseal dysplasia
is_a: MONDO:1040009 {source="PMID:30728324"} ! TRIP11-related skeletal dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:184260"} ! inherited

[Term]
id: MONDO:0031178
name: obsolete monosomy 7 myelodysplasia and leukemia syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5923" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044645

[Term]
id: MONDO:0031199
name: inherited interstitial lung disease
xref: OMIMPS:619611 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:619611"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619611"} ! inherited

[Term]
id: MONDO:0031200
name: Bryant-Li-Bhoj neurodevelopmental syndrome
xref: OMIMPS:619720 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:619720"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619720"} ! inherited

[Term]
id: MONDO:0031213
name: restrictive dermopathy
def: "A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." [Orphanet:1662]
subset: gard_rare {source="GARD:1516", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1662"}
subset: orphanet_rare {source="Orphanet:1662"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hyperkeratosis-contracture syndrome" NARROW [DOID:0060762]
synonym: "lethal hyperkeratosis-contracture syndrome" EXACT [Orphanet:1662]
synonym: "lethal restrictive dermopathy" EXACT [DOID:0060762, Orphanet:1662]
synonym: "lethal tight skin-contracture syndrome" EXACT [Orphanet:1662]
synonym: "tight skin contracture syndrome" EXACT [DOID:0060762, Orphanet:1662]
xref: DOID:0060762 {source="MONDO:equivalentTo"}
xref: GARD:1516 {source="MONDO:GARD"}
xref: MEDGEN:98356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:275210 {source="MONDO:equivalentTo"}
xref: Orphanet:1662 {source="MONDO:equivalentTo"}
xref: UMLS:C0406585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98356"}
is_a: MONDO:0003847 {source="OMIMPS:275210"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:275210"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI

[Term]
id: MONDO:0031219
name: mismatch repair cancer syndrome
subset: gard_rare {source="GARD:17217", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:252202"}
subset: orphanet_rare {source="Orphanet:252202"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0112182 {source="MONDO:equivalentTo"}
xref: GARD:17217 {source="MONDO:GARD"}
xref: MEDGEN:78553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:276300 {source="MONDO:equivalentTo"}
xref: Orphanet:252202 {xref="MONDO:equivalentTo"}
xref: UMLS:C0265325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78553"}
is_a: MONDO:0021190 {source="OMIMPS:276300"} ! DNA repair disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:276300"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7068" xsd:anyURI

[Term]
id: MONDO:0031230
name: mitochondrial complex II deficiency, nuclear type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:252011 {source="MONDO:equivalentTo"}
is_a: MONDO:0009637 {source="OMIMPS:252011"} ! inborn mitochondrial myopathy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:252011"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0031240
name: familial panic disorder
xref: OMIMPS:167870 {source="MONDO:equivalentTo"}
is_a: MONDO:0005383 {source="https://orcid.org/0000-0001-5208-3432"} ! panic disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:167870"} ! inherited

[Term]
id: MONDO:0031257
name: high altitude pulmonary edema
def: "A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe." [Orphanet:330012]
subset: gard_rare {source="GARD:21502", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:330012"}
subset: orphanet_rare {source="Orphanet:330012"}
subset: rare
xref: GARD:21502 {source="MONDO:GARD"}
xref: ICD10CM:J81 {source="Orphanet:330012"}
xref: MEDGEN:137935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:330012 {source="MONDO:equivalentTo"}
xref: UMLS:C0340100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137935"}
is_a: MONDO:0006932 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pulmonary edema
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0031280
name: Stuve-Wiedemann syndrome
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:167109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:601559 {source="MONDO:equivalentTo"}
xref: UMLS:C0796176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167109"}
is_a: MONDO:0003847 {source="OMIMPS:601559"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:601559"} ! inherited

[Term]
id: MONDO:0031322
name: triopia
def: "A craniofacial malformation with prosencephalic duplication; the presence of three eyes." [PMID:7548108]
comment: The definition is based on a single case report [PMID:7548108].
subset: gard_rare {source="GARD:5286", source="MONDO:GARD"}
subset: n_of_one
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3374"}
subset: orphanet_rare {source="Orphanet:3374"}
subset: rare
xref: GARD:5286 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="MONDO:mondoIsNarrowerThanSource.", source="Orphanet:3374"}
xref: MEDGEN:1836871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3374 {source="MONDO:equivalentTo"}
xref: UMLS:C5816687 {source="MEDGEN:1836871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002285 {source="https://orcid.org/0000-0001-5208-3432"} ! pupil disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4788" xsd:anyURI

[Term]
id: MONDO:0031323
name: cardiac valvular defect
subset: otar {source="MONDO:OTAR"}
xref: OMIMPS:212093 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:212093"} ! inherited

[Term]
id: MONDO:0031329
name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
xref: DOID:0081072 {source="MONDO:equivalentTo"}
xref: OMIMPS:213980 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 {source="OMIMPS:213980"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:213980"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI

[Term]
id: MONDO:0031332
name: Glanzmann thrombasthenia 1
def: "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia" [Orphanet:849]
subset: gard_rare {source="GARD:15240", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BDPLT2" EXACT ABBREVIATION [DOID:2219]
synonym: "bleeding disorder, Platelet-type, 2" RELATED [OMIM:273800]
synonym: "deficiency of glycoprotein complex IIb-IIIa" EXACT [DOID:2219]
synonym: "deficiency of GP 2B 3A complex" RELATED [GARD:0002478]
synonym: "deficiency of GP IIb-IIIa complex" EXACT [DOID:2219]
synonym: "deficiency of platelet fibrinogen receptor" EXACT [DOID:2219]
synonym: "Diacyclothrombopathia 2B 3A" RELATED [GARD:0002478]
synonym: "Glanzmann thrombasthenia" BROAD [DOID:2219, MONDO:Lexical, OMIM:273800]
synonym: "Glanzmann thrombasthenia 1" EXACT CLINGEN_LABEL []
synonym: "Glanzmann thrombasthenia type A" RELATED [GARD:0002478]
synonym: "Glanzmann's thrombasthenia" BROAD [MONDO:0010119]
synonym: "glycoprotein Complex IIb-IIIa, deficiency of" RELATED [OMIM:273800]
synonym: "glycoprotein IIb/IIIa defect" EXACT [DOID:2219]
synonym: "GP IIb-IIIa Complex, deficiency of" RELATED [OMIM:273800]
synonym: "GT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273800]
synonym: "Platelet fibrinogen receptor, deficiency of" RELATED [OMIM:273800]
synonym: "Platelet glycoprotein 2B 3A deficiency" RELATED [GARD:0002478]
synonym: "Platelet glycoprotein IIb-IIIa deficiency" RELATED [OMIM:273800]
synonym: "platelet glycoprotein IIb-IIIa deficiency" EXACT [DOID:2219]
synonym: "platelet-type bleeding disorder 2" EXACT [DOID:2219]
synonym: "thrombasthenia" EXACT [NCIT:C61249]
synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:2219, OMIM:273800]
synonym: "Thrombocytasthenia" EXACT [DOID:2219]
xref: DOID:2219 {source="MONDO:equivalentTo"}
xref: GARD:15240 {source="MONDO:GARD"}
xref: ICD10CM:D69.1 {source="Orphanet:849/inclusion", source="Orphanet:849", source="DOID:2219", source="Orphanet:849/ntbt"}
xref: MESH:D013915 {source="MONDO:equivalentTo", source="DOID:2219"}
xref: NCIT:C61249 {source="MONDO:equivalentTo", source="DOID:2219"}
xref: OMIM:273800 {source="MONDO:equivalentTo", source="Orphanet:849", source="DOID:2219", source="Orphanet:849/e"}
xref: Orphanet:849 {source="OMIM:273800", source="DOID:2219"}
xref: SCTID:191310008 {source="DOID:2219"}
xref: SCTID:30577005 {source="DOID:2219"}
xref: SCTID:32942005 {source="MONDO:equivalentTo", source="DOID:2219"}
is_a: MONDO:0100326 {source="OMIM:273800"} ! Glanzmann thrombasthenia

[Term]
id: MONDO:0031376
name: congenital disorder of deglycosylation
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:815321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:615273 {source="MONDO:equivalentTo"}
xref: UMLS:C3808991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815321"}
is_a: MONDO:0003847 {source="OMIMPS:615273"} ! hereditary disease
is_a: MONDO:0019052 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of metabolism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:615273"} ! inherited

[Term]
id: MONDO:0031384
name: autoinflammatory syndrome, familial, Behcet-like
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: OMIMPS:616744 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:616744"} ! hereditary disease
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:616744"} ! inherited

[Term]
id: MONDO:0031386
name: cardioacrofacial dysplasia
xref: OMIMPS:619142 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:252270"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619142"} ! inherited

[Term]
id: MONDO:0031400
name: Tessadori-Van-Haaften neurodevelopmental syndrome
xref: OMIMPS:619758 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:619758"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619758"} ! inherited

[Term]
id: MONDO:0031415
name: Carey-Fineman-Ziter syndrome
subset: gard_rare {source="GARD:3889", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1358"}
subset: orphanet_rare {source="Orphanet:1358"}
subset: rare
xref: GARD:3889 {source="MONDO:GARD"}
xref: MEDGEN:338115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:254940 {source="MONDO:equivalentTo"}
xref: Orphanet:1358 {source="MONDO:equivalentTo"}
xref: UMLS:C1850746 {source="MEDGEN:338115", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:254940"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:212093"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6049" xsd:anyURI

[Term]
id: MONDO:0031421
name: Olmsted syndrome
def: "A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." [https://orcid.org/0000-0001-5208-3432, Orphanet:659]
subset: gard_rare {source="GARD:4075", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:659"}
subset: orphanet_rare {source="Orphanet:659"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [Orphanet:659]
synonym: "palmoplantar and periorificial keratoderma" EXACT [OMIM:614594, Orphanet:659]
synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" EXACT [MONDO:0019014, OMIM:614594]
xref: DOID:0112011 {source="MONDO:equivalentTo"}
xref: GARD:4075 {source="MONDO:GARD"}
xref: ICD10CM:Q82.8 {source="Orphanet:659", source="Orphanet:659/attributed", source="Orphanet:659/ntbt"}
xref: MedDRA:10068842 {source="Orphanet:659", source="Orphanet:659/e"}
xref: MEDGEN:590661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:614594 {source="MONDO:equivalentTo"}
xref: Orphanet:659 {source="MONDO:equivalentTo", source="GARD:0004075", source="OMIM:614594"}
xref: UMLS:C0406761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590661"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0006590 {source="https://orcid.org/0000-0001-5208-3432"} ! palmoplantar keratosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614594"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0031422
name: familial mucolipidosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:256550 {source="MONDO:equivalentTo"}
is_a: MONDO:0019248 {source="https://orcid.org/0000-0001-5208-3432"} ! mucolipidosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256550"} ! inherited

[Term]
id: MONDO:0031432
name: thyroid hormone metabolism, abnormal
xref: MEDGEN:355288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:609698 {source="MONDO:equivalentTo"}
xref: UMLS:C1864761 {source="MEDGEN:355288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609698"} ! inherited

[Term]
id: MONDO:0031439
name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
subset: otar {source="MONDO:OTAR"}
xref: OMIMPS:617877 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:617877"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617877"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0031446
name: hypercholanemia, familial 1
def: "A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." [Orphanet:238475]
subset: gard_rare {source="GARD:17173", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:238475"}
subset: orphanet_rare {source="Orphanet:238475"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FHCA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607748]
synonym: "hereditary hypercholanemia" BROAD [Orphanet:238475]
xref: GARD:17173 {source="MONDO:GARD"}
xref: MEDGEN:1781366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564336 {source="MONDO:equivalentTo"}
xref: OMIM:607748 {source="Orphanet:238475/e", source="MONDO:equivalentTo", source="Orphanet:238475"}
xref: Orphanet:238475 {source="OMIM:607748", source="MONDO:equivalentTo"}
xref: SCTID:723360007 {source="MONDO:equivalentTo"}
xref: UMLS:C5542604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781366"}
is_a: MONDO:0100327 {source="OMIM:607748"} ! hypercholanemia, familial

[Term]
id: MONDO:0031447
name: macrothrombocytopenia, isolated
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:613112 {source="MONDO:equivalentTo"}
is_a: MONDO:0100241 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited thrombocytopenia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613112"} ! inherited

[Term]
id: MONDO:0031481
name: microcephaly, epilepsy, and diabetes syndrome 1
subset: gard_rare {source="GARD:18438", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:306558"}
subset: orphanet_rare {source="Orphanet:306558"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEDS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614231]
synonym: "microcephaly, epilepsy, and diabetes syndrome" BROAD [MONDO:Lexical, OMIM:614231, OMIM:genemap2]
synonym: "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" EXACT [MONDO:0013647]
xref: GARD:18438 {source="MONDO:GARD"}
xref: OMIM:614231 {source="Orphanet:306558", source="MONDO:equivalentTo", source="Orphanet:306558/e"}
xref: Orphanet:306558 {source="MONDO:equivalentTo", source="OMIM:614231"}
is_a: MONDO:0100328 {source="OMIM:614231"} ! microcephaly, epilepsy, and diabetes syndrome
intersection_of: MONDO:0100328 ! microcephaly, epilepsy, and diabetes syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18550 ! IER3IP1
relationship: excluded_subClassOf MONDO:0005015 {source="Orphanet:306558", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus
relationship: excluded_subClassOf MONDO:0015655 {source="Orphanet:306558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete cerebral malformation with epilepsy
relationship: excluded_subClassOf MONDO:0017119 {source="Orphanet:306558", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with microcephaly as major feature
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18550 {source="MONDO:mim2gene_medgen", source="OMIM:614231"} ! IER3IP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0031520
name: familial severe combined immunodeficiency
comment: Reason: duplicate. This will be merged with MONDO:0015974 severe combined immunodeficiency'
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: OMIMPS:601457 {source="MONDO:equivalentTo"}
is_a: MONDO:0015974 {source="https://orcid.org/0000-0001-5208-3432"} ! severe combined immunodeficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:256550"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7461" xsd:anyURI
property_value: IAO:0006012 "2024-06-01" xsd:string

[Term]
id: MONDO:0031615
name: familial bent bone dysplasia syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:614592 {source="MONDO:equivalentTo"}
is_a: MONDO:0019698 {source="https://orcid.org/0000-0001-5208-3432"} ! bent bone dysplasia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614592"} ! inherited

[Term]
id: MONDO:0031632
name: developmental delay with short stature, dysmorphic facial features, and sparse hair
xref: DOID:0070476 {source="MONDO:equivalentTo"}
xref: MEDGEN:934768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:616901 {source="MONDO:equivalentTo"}
xref: UMLS:C4310801 {source="MEDGEN:934768", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:616901"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:616901"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI

[Term]
id: MONDO:0031646
name: Braddock-Carey syndrome
xref: OMIMPS:619980 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619980"} ! inherited

[Term]
id: MONDO:0031689
name: obsolete genetic progeroid syndrome
subset: ordo_group_of_disorders {source="Orphanet:363245"}
xref: GARD:21543 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E34.8 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:363245 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0031697
name: obsolete genetic intractable diarrhea of infancy
subset: ordo_group_of_disorders {source="Orphanet:363300"}
xref: GARD:21546 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:363300 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0031698
name: obsolete genetic intestinal disease due to fat malabsorption
subset: ordo_group_of_disorders {source="Orphanet:363306"}
xref: GARD:21547 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:363306 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0031799
name: obsolete rare bone disease related to a common gene or pathway defect
subset: ordo_group_of_disorders {source="Orphanet:364803"}
xref: GARD:21575 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:364803 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOrigin"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0005381

[Term]
id: MONDO:0031949
name: obsolete genetic neurovascular malformation
subset: ordo_group_of_disorders {source="Orphanet:371436"}
xref: GARD:21614 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:371436 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0031952
name: obsolete genetic syndromic esophageal malformation
subset: ordo_group_of_disorders {source="Orphanet:371445"}
xref: GARD:21616 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:371445 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0032011
name: obsolete biological anomaly
def: "OBSOLETE. A disorder defined by a set of physiological abnormalities without clearly associated clinical manifestations. [Orphanet:377790]" [Orphanet:377790]
subset: ordo_disorder {source="Orphanet:377790"}
xref: Orphanet:377790 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0032013
name: obsolete clinical syndrome
def: "OBSOLETE. A disorder with homogeneous therapeutic possibilities, regardless of the pathophysiological mechanism involved." [Orphanet:377792]
subset: ordo_disorder {source="Orphanet:377792"}
xref: Orphanet:377792 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0032014
name: obsolete particular clinical situation in a disease or syndrome
def: "OBSOLETE. A set of phenotypic abnormalities presenting in a subset of patients under particular circumstances." [Orphanet:377793]
subset: ordo_disorder {source="Orphanet:377793"}
xref: Orphanet:377793 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0032221
name: obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
subset: ordo_group_of_disorders {source="Orphanet:399846"}
xref: GARD:21680 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:399846 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingOrigin"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0032485
name: intellectual developmental disorder 61
subset: gard_rare {source="GARD:18514", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61" RELATED [OMIM:618009]
synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [OMIM:618009]
synonym: "MRD61" RELATED ABBREVIATION [OMIM:618009]
xref: GARD:18514 {source="MONDO:GARD"}
xref: MEDGEN:1684867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618009 {source="MONDO:equivalentTo"}
xref: UMLS:C5231400 {source="MEDGEN:1684867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:618009"} ! disease
is_a: MONDO:0015802 {source="OMIM:618009"} ! autosomal dominant non-syndromic intellectual disability

[Term]
id: MONDO:0032526
name: spinocerebellar ataxia 48
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:631103"}
subset: orphanet_rare {source="Orphanet:631103"}
subset: rare
synonym: "SCA48" RELATED ABBREVIATION [OMIM:618093]
synonym: "SPINOCEREBELLAR ATAXIA 48" RELATED [OMIM:618093]
xref: DOID:0111746 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618093 {source="MONDO:equivalentTo"}
xref: Orphanet:631103 {source="MONDO:equivalentTo"}
xref: UMLS:C4748158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648409"}
is_a: MONDO:0000001 {source="OMIM:618093"} ! disease
is_a: MONDO:0020380 {source="OMIM:618093"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0032564
name: hennekam lymphangiectasia-lymphedema syndrome 3
subset: gard_rare {source="GARD:16296", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3" RELATED [OMIM:618154]
synonym: "HKLLS3" RELATED ABBREVIATION [OMIM:618154]
xref: GARD:16296 {source="MONDO:GARD"}
xref: MEDGEN:1648368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618154 {source="MONDO:equivalentTo"}
xref: Orphanet:2136 {source="OMIM:618154"}
xref: UMLS:C4748408 {source="MEDGEN:1648368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:618154"} ! disease
is_a: MONDO:0016256 {source="OMIM:618154"} ! Hennekam syndrome

[Term]
id: MONDO:0032565
name: ophthalmoplegia, external, with rib and vertebral anomalies
synonym: "EORVA" RELATED ABBREVIATION [OMIM:618155]
synonym: "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES" RELATED [OMIM:618155]
xref: MEDGEN:1648445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618155 {source="MONDO:equivalentTo"}
xref: UMLS:C4748418 {source="MEDGEN:1648445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618155"} ! hereditary disease

[Term]
id: MONDO:0032566
name: squalene synthase deficiency
synonym: "neurodevelopmental disorder with low cholesterol and abnormal urine organic acids" RELATED [OMIM:618156]
synonym: "SQSD" RELATED ABBREVIATION [OMIM:618156]
synonym: "SQUALENE SYNTHASE DEFICIENCY" RELATED [OMIM:618156]
xref: MEDGEN:1648421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618156 {source="MONDO:equivalentTo"}
xref: UMLS:C4748427 {source="MEDGEN:1648421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder

[Term]
id: MONDO:0032567
name: isolated growth hormone deficiency, type 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Dwarfism of Sindh" RELATED [OMIM:618157]
synonym: "growth hormone deficiency, isolated, type IV" EXACT [OMIM:618157, OMIM:genemap2]
synonym: "IGHD4" RELATED ABBREVIATION [OMIM:618157]
synonym: "Isolated Growth Hormone Deficiency, Type Ib" RELATED [OMIM:618157]
synonym: "Isolated Growth Hormone Deficiency, Type Ib, Formerly" RELATED [OMIM:618157]
synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV" RELATED [OMIM:618157]
xref: MEDGEN:1648300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618157 {source="MONDO:equivalentTo"}
xref: Orphanet:231671 {source="OMIM:618157"}
xref: UMLS:C4722273 {source="MEDGEN:1648300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:618157"} ! disease
is_a: MONDO:0000050 {source="OMIM:618157"} ! isolated congenital growth hormone deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032568
name: intellectual developmental disorder with macrocephaly, seizures, and speech delay
synonym: "IDDMSSD" RELATED ABBREVIATION [OMIM:618158]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY" RELATED [OMIM:618158]
xref: MEDGEN:1648339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618158 {source="MONDO:equivalentTo"}
xref: UMLS:C4748428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648339"}
is_a: MONDO:0003847 {source="OMIM:618158"} ! hereditary disease

[Term]
id: MONDO:0032569
name: isolated growth hormone deficiency, type 5
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IGHD5" RELATED ABBREVIATION [OMIM:618160]
synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V" RELATED [OMIM:618160]
synonym: "pituitary hormone deficiency, combined or isolated, 7" EXACT [OMIM:618160, OMIM:genemap2]
xref: MEDGEN:1648500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618160 {source="MONDO:equivalentTo"}
xref: Orphanet:231662 {source="OMIM:618160"}
xref: UMLS:C4748435 {source="MEDGEN:1648500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:618160"} ! disease
is_a: MONDO:0000050 {source="OMIM:618160"} ! isolated congenital growth hormone deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032570
name: Joubert syndrome 35
subset: gard_rare {source="GARD:16297", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS35" RELATED ABBREVIATION [OMIM:618161]
synonym: "JOUBERT SYNDROME 35" RELATED [OMIM:618161]
xref: GARD:16297 {source="MONDO:GARD"}
xref: MEDGEN:1648453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618161 {source="MONDO:equivalentTo"}
xref: Orphanet:475 {source="OMIM:618161"}
xref: UMLS:C4748442 {source="MEDGEN:1648453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:618161"} ! disease
is_a: MONDO:0018772 {source="OMIM:618161"} ! Joubert syndrome

[Term]
id: MONDO:0032571
name: spondyloepimetaphyseal dysplasia, Krakow type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Immunoosseous Dysplasia, Krakow Type" RELATED [OMIM:618162]
synonym: "SEMDK" RELATED ABBREVIATION [OMIM:618162]
synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE" RELATED [OMIM:618162]
xref: MEDGEN:1648323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618162 {source="MONDO:equivalentTo"}
xref: UMLS:C4748455 {source="MEDGEN:1648323", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:618162"} ! disease
is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia
relationship: excluded_subClassOf MONDO:0016761 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0032572
name: cardiac, facial, and digital anomalies with developmental delay
synonym: "CAFDADD" RELATED ABBREVIATION [OMIM:618164]
synonym: "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY" RELATED [OMIM:618164]
xref: MEDGEN:1648330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C179868 {source="MONDO:equivalentTo"}
xref: OMIM:618164 {source="MONDO:equivalentTo"}
xref: UMLS:C4748484 {source="MEDGEN:1648330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618164"} ! hereditary disease

[Term]
id: MONDO:0032573
name: bone marrow failure syndrome 5
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BMFS5" RELATED ABBREVIATION [OMIM:618165]
synonym: "BONE MARROW FAILURE SYNDROME 5" RELATED [OMIM:618165]
xref: MEDGEN:1648380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618165 {source="MONDO:equivalentTo"}
xref: UMLS:C4748488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648380"}
is_a: MONDO:0000159 {source="OMIM:618165"} ! bone marrow failure syndrome
is_a: MONDO:0003847 {source="OMIM:618165"} ! hereditary disease

[Term]
id: MONDO:0032574
name: osteochondrodysplasia, brachydactyly, and overlapping malformed digits
synonym: "OCBMD" RELATED ABBREVIATION [OMIM:618167]
synonym: "OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS" RELATED [OMIM:618167]
xref: MEDGEN:1648332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618167 {source="MONDO:equivalentTo"}
xref: UMLS:C4748496 {source="MEDGEN:1648332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618167"} ! hereditary disease

[Term]
id: MONDO:0032575
name: diarrhea 9
synonym: "DIAR9" RELATED ABBREVIATION [OMIM:618168]
synonym: "DIARRHEA 9" RELATED [OMIM:618168]
xref: MEDGEN:1648425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618168 {source="MONDO:equivalentTo"}
xref: UMLS:C4748517 {source="MEDGEN:1648425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000824 {source="OMIM:618168"} ! congenital diarrhea
is_a: MONDO:0003847 {source="OMIM:618168"} ! hereditary disease

[Term]
id: MONDO:0032576
name: obsolete MONDO:0032576
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4662" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100095

[Term]
id: MONDO:0032577
name: retinitis pigmentosa 83
subset: gard_rare {source="GARD:16298", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RETINITIS PIGMENTOSA 83" RELATED [OMIM:618173]
synonym: "RP83" RELATED ABBREVIATION [OMIM:618173]
xref: DOID:0112140 {source="MONDO:equivalentTo"}
xref: GARD:16298 {source="MONDO:GARD"}
xref: MEDGEN:1648404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618173 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:618173"}
xref: UMLS:C4748536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648404"}
is_a: MONDO:0003847 {source="OMIM:618173"} ! hereditary disease
is_a: MONDO:0019200 {source="OMIM:618173"} ! retinitis pigmentosa

[Term]
id: MONDO:0032578
name: cortical dysplasia, complex, with other brain malformations 9
synonym: "CDCBM9" RELATED ABBREVIATION [OMIM:618174]
synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9" RELATED [OMIM:618174]
xref: MEDGEN:1648399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618174 {source="MONDO:equivalentTo"}
xref: UMLS:C4748540 {source="MEDGEN:1648399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000904 {source="OMIM:618174"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0003847 {source="OMIM:618174"} ! hereditary disease

[Term]
id: MONDO:0032579
name: warburg-cinotti syndrome
subset: clingen {source="MONDO:CLINGEN"}
synonym: "WARBURG-CINOTTI SYNDROME" RELATED [OMIM:618175]
synonym: "WRCN" RELATED ABBREVIATION [OMIM:618175]
xref: MEDGEN:1677486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618175 {source="MONDO:equivalentTo"}
xref: UMLS:C5193019 {source="MONDO:equivalentTo", source="MEDGEN:1677486", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618175"} ! hereditary disease

[Term]
id: MONDO:0032580
name: nephrotic syndrome, type 17
subset: gard_rare {source="GARD:16299", source="MONDO:GARD"}
subset: rare
synonym: "NEPHROTIC SYNDROME, TYPE 17" RELATED [OMIM:618176]
synonym: "NPHS17" RELATED ABBREVIATION [OMIM:618176]
xref: DOID:0080392 {source="MONDO:equivalentTo"}
xref: GARD:16299 {source="MONDO:GARD"}
xref: MEDGEN:1648294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618176 {source="MONDO:equivalentTo"}
xref: Orphanet:656 {source="OMIM:618176"}
xref: UMLS:C4748545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648294"}
is_a: MONDO:0002350 {source="OMIM:618176"} ! familial nephrotic syndrome
is_a: MONDO:0003847 {source="OMIM:618176"} ! hereditary disease

[Term]
id: MONDO:0032581
name: nephrotic syndrome, type 18
subset: gard_rare {source="GARD:16300", source="MONDO:GARD"}
subset: rare
synonym: "NEPHROTIC SYNDROME, TYPE 18" RELATED [OMIM:618177]
synonym: "NPHS18" RELATED ABBREVIATION [OMIM:618177]
xref: DOID:0080393 {source="MONDO:equivalentTo"}
xref: GARD:16300 {source="MONDO:GARD"}
xref: MEDGEN:1648464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618177 {source="MONDO:equivalentTo"}
xref: Orphanet:656 {source="OMIM:618177"}
xref: UMLS:C4748549 {source="MEDGEN:1648464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002350 {source="OMIM:618177"} ! familial nephrotic syndrome
is_a: MONDO:0003847 {source="OMIM:618177"} ! hereditary disease

[Term]
id: MONDO:0032582
name: nephrotic syndrome, type 19
subset: gard_rare {source="GARD:16301", source="MONDO:GARD"}
subset: rare
synonym: "NEPHROTIC SYNDROME, TYPE 19" RELATED [OMIM:618178]
synonym: "NPHS19" RELATED ABBREVIATION [OMIM:618178]
xref: DOID:0080394 {source="MONDO:equivalentTo"}
xref: GARD:16301 {source="MONDO:GARD"}
xref: MEDGEN:1648305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618178 {source="MONDO:equivalentTo"}
xref: Orphanet:656 {source="OMIM:618178"}
xref: UMLS:C4748552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648305"}
is_a: MONDO:0002350 {source="OMIM:618178"} ! familial nephrotic syndrome
is_a: MONDO:0003847 {source="OMIM:618178"} ! hereditary disease

[Term]
id: MONDO:0032583
name: microcephaly 24, primary, autosomal recessive
subset: gard_rare {source="GARD:16302", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH24" RELATED ABBREVIATION [OMIM:618179]
synonym: "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE" RELATED [OMIM:618179]
xref: GARD:16302 {source="MONDO:GARD"}
xref: MEDGEN:1648413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618179 {source="MONDO:equivalentTo"}
xref: Orphanet:656 {source="OMIM:618179"}
xref: UMLS:C4748555 {source="MONDO:equivalentTo", source="MEDGEN:1648413", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618179"} ! hereditary disease
is_a: MONDO:0016660 {source="OMIM:618179"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0032584
name: ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD14" RELATED ABBREVIATION [OMIM:618180]
synonym: "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS" RELATED [OMIM:618180]
xref: DOID:0111662 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618180 {source="MONDO:equivalentTo"}
xref: UMLS:C4748560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648329"}
is_a: MONDO:0003847 {source="OMIM:618180"} ! hereditary disease
is_a: MONDO:0019287 {source="OMIM:618180"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0032586
name: diarrhea 10, protein-losing enteropathy type
synonym: "DIAR10" RELATED ABBREVIATION [OMIM:618183]
synonym: "DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE" RELATED [OMIM:618183]
xref: MEDGEN:1648311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618183 {source="MONDO:equivalentTo"}
xref: Orphanet:329242 {source="OMIM:618183"}
xref: UMLS:C4748579 {source="MEDGEN:1648311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000824 {source="OMIM:618183"} ! congenital diarrhea
is_a: MONDO:0003847 {source="OMIM:618183"} ! hereditary disease

[Term]
id: MONDO:0032588
name: periventricular nodular heterotopia 8
subset: gard_rare {source="GARD:16303", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 8" RELATED [OMIM:618185]
synonym: "PVNH8" RELATED ABBREVIATION [OMIM:618185]
xref: GARD:16303 {source="MONDO:GARD"}
xref: MEDGEN:1648287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618185 {source="MONDO:equivalentTo"}
xref: Orphanet:98892 {source="OMIM:618185"}
xref: UMLS:C4748602 {source="MEDGEN:1648287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618185"} ! hereditary disease
is_a: MONDO:0020341 {source="OMIM:618185"} ! periventricular nodular heterotopia

[Term]
id: MONDO:0032590
name: ovarian dysgenesis 8
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ODG8" RELATED ABBREVIATION [OMIM:618187]
synonym: "OVARIAN DYSGENESIS 8" RELATED [OMIM:618187]
xref: DOID:0080500 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618187 {source="MONDO:equivalentTo"}
xref: UMLS:C4748626 {source="MEDGEN:1648455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618187"} ! hereditary disease
is_a: MONDO:0009299 {source="OMIM:618187"} ! 46 XX gonadal dysgenesis

[Term]
id: MONDO:0032591
name: hyperparathyroidism, transient neonatal
subset: gard_rare {source="GARD:16304", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HRPTTN" EXACT ABBREVIATION [OMIM:618188]
synonym: "hyperparathyroidism, transient neonatal" EXACT [OMIM:618188]
xref: GARD:16304 {source="MONDO:GARD"}
xref: MEDGEN:722059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618188 {source="MONDO:equivalentTo"}
xref: Orphanet:417 {source="OMIM:618188"}
xref: UMLS:C1300287 {source="MEDGEN:722059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618188"} ! hereditary disease
is_a: MONDO:0016166 {source="OMIM:618188"} ! hereditary hyperparathyroidism
is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0032592
name: cardiomyopathy, dilated, 2c
def: "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34." [DOID:0081159]
subset: gard_rare {source="GARD:16305", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CARDIOMYOPATHY, DILATED, 2C" RELATED [OMIM:618189]
synonym: "CMD2C" RELATED ABBREVIATION [OMIM:618189]
xref: DOID:0081159 {source="MONDO:equivalentTo"}
xref: GARD:16305 {source="MONDO:GARD"}
xref: MEDGEN:1648379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618189 {source="MONDO:equivalentTo"}
xref: Orphanet:154 {source="OMIM:618189"}
xref: UMLS:C4748647 {source="MEDGEN:1648379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618189"} ! hereditary disease
is_a: MONDO:0005021 {source="DOID:0081159"} ! dilated cardiomyopathy

[Term]
id: MONDO:0032594
name: intellectual developmental disorder and retinitis pigmentosa; IDDRP
subset: gard_rare {source="GARD:16306", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDDRP" RELATED ABBREVIATION [OMIM:618195]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA" RELATED [OMIM:618195]
xref: GARD:16306 {source="MONDO:GARD"}
xref: MEDGEN:1648358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618195 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:618195"}
xref: UMLS:C4748658 {source="MONDO:equivalentTo", source="MEDGEN:1648358", source="MONDO:MEDGEN"}
is_a: MONDO:0001071 ! intellectual disability
is_a: MONDO:0003847 {source="OMIM:618195"} ! hereditary disease
relationship: disease_has_feature MONDO:0019200 ! retinitis pigmentosa

[Term]
id: MONDO:0032596
name: myasthenic syndrome, congenital, 23, presynaptic
subset: gard_rare {source="GARD:16308", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS23" RELATED ABBREVIATION [OMIM:618197]
synonym: "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC" RELATED [OMIM:618197]
xref: GARD:16308 {source="MONDO:GARD"}
xref: MEDGEN:1648392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618197 {source="MONDO:equivalentTo"}
xref: Orphanet:98914 {source="OMIM:618197"}
xref: UMLS:C4748678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648392"}
is_a: MONDO:0003847 {source="OMIM:618197"} ! hereditary disease
is_a: MONDO:0018940 {source="OMIM:618197"} ! congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0032597
name: myasthenic syndrome, congenital, 24, presynaptic
subset: gard_rare {source="GARD:16309", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS24" RELATED ABBREVIATION [OMIM:618198]
synonym: "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC" RELATED [OMIM:618198]
xref: GARD:16309 {source="MONDO:GARD"}
xref: MEDGEN:1648337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618198 {source="MONDO:equivalentTo"}
xref: Orphanet:98914 {source="OMIM:618198"}
xref: UMLS:C4748684 {source="MEDGEN:1648337", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618198"} ! hereditary disease
is_a: MONDO:0018940 {source="OMIM:618198"} ! congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0032598
name: developmental and epileptic encephalopathy, 68
subset: gard_rare {source="GARD:16310", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE68" EXACT ABBREVIATION [OMIM:618201]
synonym: "developmental and epileptic encephalopathy 68" EXACT [OMIM:618201, OMIM:genemap2]
synonym: "EIEE68" EXACT ABBREVIATION [OMIM:618201]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68" EXACT [OMIM:618201]
synonym: "epileptic encephalopathy, early infantile, 68" EXACT [OMIM:618201]
xref: DOID:0112204 {source="MONDO:equivalentTo"}
xref: GARD:16310 {source="MONDO:GARD"}
xref: MEDGEN:1648479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618201 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:618201"}
xref: UMLS:C4748688 {source="MONDO:equivalentTo", source="MEDGEN:1648479", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618201"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618201"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032599
name: immunodeficiency 15a
subset: gard_rare {source="GARD:18469", source="MONDO:GARD"}
subset: rare
synonym: "IMD15A" RELATED ABBREVIATION [OMIM:618204]
synonym: "IMMUNODEFICIENCY 15A" RELATED [OMIM:618204]
xref: DOID:0111960 {source="MONDO:equivalentTo"}
xref: GARD:18469 {source="MONDO:GARD"}
xref: MEDGEN:1648385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618204 {source="MONDO:equivalentTo"}
xref: Orphanet:397787 {source="OMIM:618204"}
xref: UMLS:C4748694 {source="MEDGEN:1648385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618204"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618204"} ! immunodeficiency disease

[Term]
id: MONDO:0032600
name: Snijders Blok-Campeau syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:13806", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599082"}
subset: orphanet_rare {source="Orphanet:599082"}
subset: rare
synonym: "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome" EXACT [https://orcid.org/0000-0001-9310-0163]
synonym: "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies" EXACT [OMIM:618205]
synonym: "SNIBCPS" RELATED ABBREVIATION [OMIM:618205]
synonym: "SNIJDERS BLOK-CAMPEAU SYNDROME" RELATED [OMIM:618205]
xref: GARD:13806 {source="MONDO:GARD"}
xref: MEDGEN:1648495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618205 {source="MONDO:equivalentTo"}
xref: Orphanet:599082 {source="MONDO:equivalentTo"}
xref: UMLS:C4748701 {source="MEDGEN:1648495", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618205"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7576" xsd:anyURI

[Term]
id: MONDO:0032601
name: inflammatory bowel disease, immunodeficiency, and encephalopathy
subset: gard_rare {source="GARD:18000", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:565788"}
subset: orphanet_rare {source="Orphanet:565788"}
subset: rare
synonym: "IBDIMDE" RELATED ABBREVIATION [OMIM:618213]
synonym: "INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY" RELATED [OMIM:618213]
xref: GARD:18000 {source="MONDO:GARD"}
xref: MEDGEN:1648434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618213 {source="MONDO:equivalentTo"}
xref: Orphanet:565788 {source="MONDO:equivalentTo", source="OMIM:618213"}
xref: UMLS:C4748708 {source="MEDGEN:1648434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618213"} ! hereditary disease

[Term]
id: MONDO:0032603
name: polydactyly, postaxial, type A9
subset: gard_rare {source="GARD:18177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PAPA9" RELATED ABBREVIATION [OMIM:618219]
synonym: "POLYDACTYLY, POSTAXIAL, TYPE A9" RELATED [OMIM:618219]
xref: GARD:18177 {source="MONDO:GARD"}
xref: MEDGEN:1648428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618219 {source="MONDO:equivalentTo"}
xref: Orphanet:93334 {source="OMIM:618219"}
xref: UMLS:C4748721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648428"}
is_a: MONDO:0003847 {source="OMIM:618219"} ! hereditary disease
is_a: MONDO:0020927 {source="OMIM:618219"} ! postaxial polydactyly

[Term]
id: MONDO:0032604
name: retinitis pigmentosa 84
subset: gard_rare {source="GARD:16311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RETINITIS PIGMENTOSA 84" RELATED [OMIM:618220]
synonym: "RP84" RELATED ABBREVIATION [OMIM:618220]
xref: DOID:0112141 {source="MONDO:equivalentTo"}
xref: GARD:16311 {source="MONDO:GARD"}
xref: MEDGEN:1648352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618220 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:618220"}
xref: UMLS:C4748725 {source="MEDGEN:1648352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618220"} ! hereditary disease
is_a: MONDO:0019200 {source="OMIM:618220"} ! retinitis pigmentosa

[Term]
id: MONDO:0032605
name: intellectual disability, autosomal recessive 66
subset: gard_rare {source="GARD:22579", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, autosomal recessive 66" EXACT [OMIM:618221, OMIM:genemap2]
synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66" RELATED [OMIM:618221]
synonym: "MRT66" RELATED ABBREVIATION [OMIM:618221]
xref: DOID:0081227 {source="MONDO:equivalentTo"}
xref: GARD:22579 {source="MONDO:GARD"}
xref: MEDGEN:1648460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618221 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:618221"}
xref: UMLS:C4748732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648460"}
is_a: MONDO:0003847 {source="OMIM:618221"} ! hereditary disease
is_a: MONDO:0019502 {source="OMIM:618221"} ! autosomal recessive non-syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032606
name: mitochondrial complex 1 deficiency, nuclear type 2
subset: gard_rare {source="GARD:16312", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN2" RELATED ABBREVIATION [OMIM:618222]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2" RELATED [OMIM:618222]
xref: DOID:0112083 {source="MONDO:equivalentTo"}
xref: GARD:16312 {source="MONDO:GARD"}
xref: MEDGEN:1648466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618222 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618222"}
xref: Orphanet:2609 {source="OMIM:618222"}
xref: UMLS:C4748737 {source="MEDGEN:1648466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618222"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618222"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7715 ! NDUFS8

[Term]
id: MONDO:0032607
name: vertebral anomalies and variable endocrine and T-cell dysfunction
synonym: "VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION" RELATED [OMIM:618223]
synonym: "VETD" RELATED ABBREVIATION [OMIM:618223]
xref: DOID:0070345 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618223 {source="MONDO:equivalentTo"}
xref: UMLS:C4748741 {source="MEDGEN:1648299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618223"} ! hereditary disease

[Term]
id: MONDO:0032608
name: mitochondrial complex 1 deficiency, nuclear type 3
subset: gard_rare {source="GARD:16313", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN3" RELATED ABBREVIATION [OMIM:618224]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3" RELATED [OMIM:618224]
xref: DOID:0112093 {source="MONDO:equivalentTo"}
xref: GARD:16313 {source="MONDO:GARD"}
xref: MEDGEN:1648346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618224 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618224"}
xref: Orphanet:2609 {source="OMIM:618224"}
xref: UMLS:C4748752 {source="MEDGEN:1648346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7714 ! NDUFS7

[Term]
id: MONDO:0032609
name: mitochondrial complex 1 deficiency, nuclear type 4
subset: gard_rare {source="GARD:16314", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN4" RELATED ABBREVIATION [OMIM:618225]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4" RELATED [OMIM:618225]
xref: DOID:0112082 {source="MONDO:equivalentTo"}
xref: GARD:16314 {source="MONDO:GARD"}
xref: MEDGEN:1648324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618225 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618225"}
xref: Orphanet:2609 {source="OMIM:618225"}
xref: UMLS:C4748753 {source="MEDGEN:1648324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7716 ! NDUFV1

[Term]
id: MONDO:0032610
name: mitochondrial complex 1 deficiency, nuclear type 5
subset: gard_rare {source="GARD:16315", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC1DN5" RELATED ABBREVIATION [OMIM:618226]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5" RELATED [OMIM:618226]
xref: DOID:0112068 {source="MONDO:equivalentTo"}
xref: GARD:16315 {source="MONDO:GARD"}
xref: MEDGEN:1648292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618226 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618226"}
xref: Orphanet:2609 {source="OMIM:618226"}
xref: UMLS:C4748754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648292"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7707 ! NDUFS1

[Term]
id: MONDO:0032611
name: mitochondrial complex 1 deficiency, nuclear type 6
subset: gard_rare {source="GARD:16316", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN6" RELATED ABBREVIATION [OMIM:618228]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6" RELATED [OMIM:618228]
xref: DOID:0112066 {source="MONDO:equivalentTo"}
xref: GARD:16316 {source="MONDO:GARD"}
xref: MEDGEN:1648496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618228 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618228"}
xref: Orphanet:2609 {source="OMIM:618228"}
xref: Orphanet:70474 {source="OMIM:618228"}
xref: UMLS:C4748759 {source="MEDGEN:1648496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7708 ! NDUFS2

[Term]
id: MONDO:0032612
name: mitochondrial complex 1 deficiency, nuclear type 7
subset: gard_rare {source="GARD:16317", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN7" RELATED ABBREVIATION [OMIM:618229]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7" RELATED [OMIM:618229]
xref: DOID:0112092 {source="MONDO:equivalentTo"}
xref: GARD:16317 {source="MONDO:GARD"}
xref: MEDGEN:1648484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618229 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618229"}
xref: Orphanet:2609 {source="OMIM:618229"}
xref: UMLS:C4748760 {source="MEDGEN:1648484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7717 ! NDUFV2

[Term]
id: MONDO:0032613
name: mitochondrial complex 1 deficiency, nuclear type 8
subset: gard_rare {source="GARD:16318", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN8" RELATED ABBREVIATION [OMIM:618230]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8" RELATED [OMIM:618230]
xref: DOID:0112081 {source="MONDO:equivalentTo"}
xref: GARD:16318 {source="MONDO:GARD"}
xref: MEDGEN:1648411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618230 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618230"}
xref: Orphanet:2609 {source="OMIM:618230"}
xref: UMLS:C4748766 {source="MEDGEN:1648411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7710 ! NDUFS3

[Term]
id: MONDO:0032614
name: epidermodysplasia verruciformis, susceptibility to, 2
synonym: "epidermodysplasia verruciformis 2" EXACT [OMIM:618231, OMIM:genemap2]
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2" RELATED [OMIM:618231]
synonym: "EV2" RELATED ABBREVIATION [OMIM:618231]
xref: MEDGEN:1648344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618231 {source="MONDO:equivalentTo"}
xref: Orphanet:302 {source="OMIM:618231"}
xref: UMLS:C4722258 {source="MEDGEN:1648344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100043 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618231", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0009176 {source="OMIM:618231"} ! epidermodysplasia verruciformis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0032615
name: mitochondrial complex 1 deficiency, nuclear type 9
subset: gard_rare {source="GARD:16319", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN9" RELATED ABBREVIATION [OMIM:618232]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9" RELATED [OMIM:618232]
xref: DOID:0112073 {source="MONDO:equivalentTo"}
xref: GARD:16319 {source="MONDO:GARD"}
xref: MEDGEN:1648447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618232 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618232"}
xref: UMLS:C4748767 {source="MEDGEN:1648447", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7713 ! NDUFS6

[Term]
id: MONDO:0032616
name: mitochondrial complex 1 deficiency, nuclear type 10
subset: gard_rare {source="GARD:16320", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN10" RELATED ABBREVIATION [OMIM:618233]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10" RELATED [OMIM:618233]
xref: DOID:0112075 {source="MONDO:equivalentTo"}
xref: GARD:16320 {source="MONDO:GARD"}
xref: MEDGEN:1648426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618233 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618233"}
xref: Orphanet:2609 {source="OMIM:618233"}
xref: UMLS:C4748768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648426"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28086 ! NDUFAF2

[Term]
id: MONDO:0032617
name: mitochondrial complex 1 deficiency, nuclear type 11
subset: gard_rare {source="GARD:16321", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN11" RELATED ABBREVIATION [OMIM:618234]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11" RELATED [OMIM:618234]
xref: DOID:0112089 {source="MONDO:equivalentTo"}
xref: GARD:16321 {source="MONDO:GARD"}
xref: MEDGEN:1648356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618234 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618234"}
xref: UMLS:C4748769 {source="MEDGEN:1648356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18828 ! NDUFAF1

[Term]
id: MONDO:0032618
name: mitochondrial complex 1 deficiency, nuclear type 13
subset: gard_rare {source="GARD:18371", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN13" RELATED ABBREVIATION [OMIM:618235]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13" RELATED [OMIM:618235]
xref: DOID:0112076 {source="MONDO:equivalentTo"}
xref: GARD:18371 {source="MONDO:GARD"}
xref: MEDGEN:1648370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618235 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618235"}
xref: UMLS:C4748770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648370"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7685 ! NDUFA2

[Term]
id: MONDO:0032619
name: mitochondrial complex 1 deficiency, nuclear type 14
subset: gard_rare {source="GARD:16322", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN14" RELATED ABBREVIATION [OMIM:618236]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14" RELATED [OMIM:618236]
xref: DOID:0112094 {source="MONDO:equivalentTo"}
xref: GARD:16322 {source="MONDO:GARD"}
xref: MEDGEN:1648440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618236 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618236"}
xref: UMLS:C4748777 {source="MEDGEN:1648440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20371 ! NDUFA11

[Term]
id: MONDO:0032620
name: mitochondrial complex 1 deficiency, nuclear type 15
subset: gard_rare {source="GARD:16323", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN15" RELATED ABBREVIATION [OMIM:618237]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15" RELATED [OMIM:618237]
xref: DOID:0112077 {source="MONDO:equivalentTo"}
xref: GARD:16323 {source="MONDO:GARD"}
xref: MEDGEN:1648320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618237 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618237"}
xref: UMLS:C4748778 {source="MEDGEN:1648320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21034 ! NDUFAF4

[Term]
id: MONDO:0032621
name: mitochondrial complex 1 deficiency, nuclear type 16
subset: gard_rare {source="GARD:16324", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN16" RELATED ABBREVIATION [OMIM:618238]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16" RELATED [OMIM:618238]
xref: DOID:0112096 {source="MONDO:equivalentTo"}
xref: GARD:16324 {source="MONDO:GARD"}
xref: MEDGEN:1648351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618238 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618238"}
xref: UMLS:C4748785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648351"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15899 ! NDUFAF5

[Term]
id: MONDO:0032622
name: mitochondrial complex 1 deficiency, nuclear type 17
subset: gard_rare {source="GARD:18372", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN17" RELATED ABBREVIATION [OMIM:618239]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17" RELATED [OMIM:618239]
xref: DOID:0112078 {source="MONDO:equivalentTo"}
xref: GARD:18372 {source="MONDO:GARD"}
xref: MEDGEN:1648418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618239 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618239"}
xref: UMLS:C4748786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648418"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28625 ! NDUFAF6

[Term]
id: MONDO:0032623
name: mitochondrial complex 1 deficiency, nuclear type 18
subset: gard_rare {source="GARD:16325", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN18" RELATED ABBREVIATION [OMIM:618240]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18" RELATED [OMIM:618240]
xref: DOID:0112070 {source="MONDO:equivalentTo"}
xref: GARD:16325 {source="MONDO:GARD"}
xref: MEDGEN:1648321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618240 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618240"}
xref: Orphanet:2609 {source="OMIM:618240"}
xref: UMLS:C4748790 {source="MEDGEN:1648321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29918 ! NDUFAF3

[Term]
id: MONDO:0032624
name: mitochondrial complex 1 deficiency, nuclear type 19
subset: gard_rare {source="GARD:16326", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN19" RELATED ABBREVIATION [OMIM:618241]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19" RELATED [OMIM:618241]
xref: DOID:0112085 {source="MONDO:equivalentTo"}
xref: GARD:16326 {source="MONDO:GARD"}
xref: MEDGEN:1648450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618241 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618241"}
xref: Orphanet:2609 {source="OMIM:618241"}
xref: UMLS:C4748791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648450"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26927 ! FOXRED1

[Term]
id: MONDO:0032625
name: mitochondrial complex 1 deficiency, nuclear type 21
subset: gard_rare {source="GARD:16327", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN21" RELATED ABBREVIATION [OMIM:618242]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21" RELATED [OMIM:618242]
xref: DOID:0112088 {source="MONDO:equivalentTo"}
xref: GARD:16327 {source="MONDO:GARD"}
xref: MEDGEN:1648383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618242 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618242"}
xref: UMLS:C4748792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648383"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20278 ! NUBPL

[Term]
id: MONDO:0032626
name: mitochondrial complex 1 deficiency, nuclear type 22
subset: gard_rare {source="GARD:18373", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN22" RELATED ABBREVIATION [OMIM:618243]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22" RELATED [OMIM:618243]
xref: DOID:0112069 {source="MONDO:equivalentTo"}
xref: GARD:18373 {source="MONDO:GARD"}
xref: MEDGEN:1648347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618243 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618243"}
xref: UMLS:C4748796 {source="MONDO:equivalentTo", source="MEDGEN:1648347", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7684 ! NDUFA10

[Term]
id: MONDO:0032627
name: mitochondrial complex 1 deficiency, nuclear type 23
subset: gard_rare {source="GARD:18374", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN23" RELATED ABBREVIATION [OMIM:618244]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23" RELATED [OMIM:618244]
xref: DOID:0112087 {source="MONDO:equivalentTo"}
xref: GARD:18374 {source="MONDO:GARD"}
xref: MEDGEN:1648408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618244 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618244"}
xref: UMLS:C4748799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648408"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23987 ! NDUFA12

[Term]
id: MONDO:0032628
name: mitochondrial complex 1 deficiency, nuclear type 24
subset: gard_rare {source="GARD:16328", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN24" RELATED ABBREVIATION [OMIM:618245]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24" RELATED [OMIM:618245]
xref: DOID:0112079 {source="MONDO:equivalentTo"}
xref: GARD:16328 {source="MONDO:GARD"}
xref: MEDGEN:1648364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618245 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618245"}
xref: UMLS:C4748803 {source="MEDGEN:1648364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7704 ! NDUFB9

[Term]
id: MONDO:0032629
name: mitochondrial complex 1 deficiency, nuclear type 25
subset: gard_rare {source="GARD:16329", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN25" RELATED ABBREVIATION [OMIM:618246]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25" RELATED [OMIM:618246]
xref: DOID:0112067 {source="MONDO:equivalentTo"}
xref: GARD:16329 {source="MONDO:GARD"}
xref: MEDGEN:1648366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618246 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618246"}
xref: UMLS:C4748806 {source="MEDGEN:1648366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7698 ! NDUFB3

[Term]
id: MONDO:0032630
name: mitochondrial complex 1 deficiency, nuclear type 26
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MC1DN26" RELATED ABBREVIATION [OMIM:618247]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26" RELATED [OMIM:618247]
xref: DOID:0112086 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618247 {source="MONDO:equivalentTo"}
xref: UMLS:C4748809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648283"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7693 ! NDUFA9

[Term]
id: MONDO:0032631
name: mitochondrial complex 1 deficiency, nuclear type 27
subset: gard_rare {source="GARD:18375", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN27" RELATED ABBREVIATION [OMIM:618248]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27" RELATED [OMIM:618248]
xref: DOID:0112090 {source="MONDO:equivalentTo"}
xref: GARD:18375 {source="MONDO:GARD"}
xref: MEDGEN:1648481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618248 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618248"}
xref: UMLS:C4748826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648481"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29666 ! MTFMT

[Term]
id: MONDO:0032632
name: mitochondrial complex 1 deficiency, nuclear type 28
subset: gard_rare {source="GARD:18376", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN28" RELATED ABBREVIATION [OMIM:618249]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28" RELATED [OMIM:618249]
xref: DOID:0112095 {source="MONDO:equivalentTo"}
xref: GARD:18376 {source="MONDO:GARD"}
xref: MEDGEN:1648493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618249 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618249"}
xref: UMLS:C4748827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648493"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17194 ! NDUFA13

[Term]
id: MONDO:0032633
name: mitochondrial complex 1 deficiency, nuclear type 29
subset: gard_rare {source="GARD:16330", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN29" RELATED ABBREVIATION [OMIM:618250]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29" RELATED [OMIM:618250]
xref: DOID:0112084 {source="MONDO:equivalentTo"}
xref: GARD:16330 {source="MONDO:GARD"}
xref: MEDGEN:1648451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618250 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618250"}
xref: UMLS:C4748830 {source="MEDGEN:1648451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30883 ! TMEM126B

[Term]
id: MONDO:0032634
name: mitochondrial complex 1 deficiency, nuclear type 31
subset: gard_rare {source="GARD:16331", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN31" RELATED ABBREVIATION [OMIM:618251]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31" RELATED [OMIM:618251]
xref: DOID:0112071 {source="MONDO:equivalentTo"}
xref: GARD:16331 {source="MONDO:GARD"}
xref: MEDGEN:1648395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618251 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618251"}
xref: UMLS:C4748838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648395"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1321 ! TIMMDC1

[Term]
id: MONDO:0032635
name: mitochondrial complex 1 deficiency, nuclear type 32
subset: gard_rare {source="GARD:18067", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN32" RELATED ABBREVIATION [OMIM:618252]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32" RELATED [OMIM:618252]
xref: DOID:0112080 {source="MONDO:equivalentTo"}
xref: GARD:18067 {source="MONDO:GARD"}
xref: MEDGEN:1648336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618252 {source="MONDO:equivalentTo"}
xref: Orphanet:70474 {source="OMIM:618252"}
xref: UMLS:C4748839 {source="MONDO:equivalentTo", source="MEDGEN:1648336", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7703 ! NDUFB8

[Term]
id: MONDO:0032636
name: mitochondrial complex 1 deficiency, nuclear type 33
subset: gard_rare {source="GARD:16332", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN33" RELATED ABBREVIATION [OMIM:618253]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33" RELATED [OMIM:618253]
xref: DOID:0112097 {source="MONDO:equivalentTo"}
xref: GARD:16332 {source="MONDO:GARD"}
xref: MEDGEN:1648420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618253 {source="MONDO:equivalentTo"}
xref: Orphanet:2609 {source="OMIM:618253"}
xref: UMLS:C4748840 {source="MEDGEN:1648420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7690 ! NDUFA6

[Term]
id: MONDO:0032637
name: ciliary dyskinesia, primary, 39
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CILD39" RELATED ABBREVIATION [OMIM:618254]
synonym: "CILIARY DYSKINESIA, PRIMARY, 39" RELATED [OMIM:618254]
synonym: "Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus" RELATED [OMIM:618254]
xref: DOID:0111854 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618254 {source="MONDO:equivalentTo"}
xref: UMLS:C4748841 {source="MEDGEN:1648363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618254"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:618254"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0032639
name: hearing loss, autosomal recessive 112
subset: gard_rare {source="GARD:18377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 112" NARROW [OMIM:618257, OMIM:genemap2]
synonym: "DFNB112" NARROW ABBREVIATION [OMIM:618257]
xref: DOID:0111637 {source="MONDO:equivalentTo"}
xref: GARD:18377 {source="MONDO:GARD"}
xref: MEDGEN:1648378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618257 {source="MONDO:equivalentTo"}
xref: Orphanet:255241 {source="OMIM:618257"}
xref: Orphanet:90636 {source="OMIM:618257"}
xref: UMLS:C4748855 {source="MEDGEN:1648378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618257"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:618257"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032641
name: mirror movements 4
subset: gard_rare {source="GARD:16333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MIRROR MOVEMENTS 4" RELATED [OMIM:618264]
synonym: "MRMV4" RELATED ABBREVIATION [OMIM:618264]
xref: GARD:16333 {source="MONDO:GARD"}
xref: MEDGEN:1648342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618264 {source="MONDO:equivalentTo"}
xref: Orphanet:238722 {source="OMIM:618264"}
xref: UMLS:C4748869 {source="MEDGEN:1648342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618264"} ! hereditary disease
is_a: MONDO:0016558 {source="OMIM:618264"} ! familial congenital mirror movements

[Term]
id: MONDO:0032642
name: arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
subset: gard_rare {source="GARD:18001", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:565858"}
subset: orphanet_rare {source="Orphanet:565858"}
subset: rare
synonym: "ACCIID" RELATED ABBREVIATION [OMIM:618265]
synonym: "ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618265]
xref: GARD:18001 {source="MONDO:GARD"}
xref: MEDGEN:1648372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618265 {source="MONDO:equivalentTo"}
xref: Orphanet:565858 {source="MONDO:equivalentTo", source="OMIM:618265"}
xref: UMLS:C4748872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648372"}
is_a: MONDO:0003847 {source="OMIM:618265"} ! hereditary disease

[Term]
id: MONDO:0032643
name: pontocerebellar hypoplasia, type 12
subset: gard_rare {source="GARD:18030", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:611256"}
subset: orphanet_rare {source="Orphanet:611256"}
subset: rare
synonym: "COASY-related pontocerebellar hypoplasia" EXACT [Orphanet:611256]
synonym: "PCH12" EXACT ABBREVIATION [OMIM:618266, Orphanet:611256]
synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 12" EXACT [OMIM:618266]
xref: DOID:0112327 {source="MONDO:equivalentTo"}
xref: GARD:18030 {source="MONDO:GARD"}
xref: MEDGEN:1648343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618266 {source="MONDO:equivalentTo"}
xref: Orphanet:611256 {source="MONDO:equivalentTo"}
xref: UMLS:C4748873 {source="MEDGEN:1648343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618266"} ! hereditary disease
is_a: MONDO:0020135 {source="OMIM:618266"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0032644
name: epidermodysplasia verruciformis, susceptibility to, 3
synonym: "epidermodysplasia verruciformis 3" EXACT [OMIM:618267, OMIM:genemap2]
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3" RELATED [OMIM:618267]
synonym: "EV3" RELATED ABBREVIATION [OMIM:618267]
xref: MEDGEN:1648390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618267 {source="MONDO:equivalentTo"}
xref: Orphanet:302 {source="OMIM:618267"}
xref: UMLS:C4748876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648390"}
is_a: MONDO:0100043 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618267", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0009176 {source="OMIM:618267"} ! epidermodysplasia verruciformis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0032645
name: trichohepatoneurodevelopmental syndrome
synonym: "THNS" RELATED ABBREVIATION [OMIM:618268]
synonym: "TRICHOHEPATONEURODEVELOPMENTAL SYNDROME" RELATED [OMIM:618268]
xref: MEDGEN:1648322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618268 {source="MONDO:equivalentTo"}
xref: UMLS:C4748898 {source="MEDGEN:1648322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618268"} ! hereditary disease

[Term]
id: MONDO:0032646
name: congenital anomalies of kidney and urinary tract 3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAKUT3" RELATED ABBREVIATION [OMIM:618270]
synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3" RELATED [OMIM:618270]
xref: MEDGEN:1648427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618270 {source="MONDO:equivalentTo"}
xref: UMLS:C4748921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648427"}
is_a: MONDO:0003847 {source="OMIM:618270"} ! hereditary disease
is_a: MONDO:0019719 {source="OMIM:618270"} ! congenital anomaly of kidney and urinary tract

[Term]
id: MONDO:0032647
name: obsolete global developmental delay, lung cysts, overgrowth, and wilms tumor
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4224" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018445

[Term]
id: MONDO:0032648
name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
synonym: "MCCCHCM" RELATED ABBREVIATION [OMIM:618273]
synonym: "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS" RELATED [OMIM:618273]
xref: DOID:0111403 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618273 {source="MONDO:equivalentTo"}
xref: UMLS:C4748927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648439"}
is_a: MONDO:0003847 {source="OMIM:618273"} ! hereditary disease

[Term]
id: MONDO:0032649
name: hypotrichosis 14
subset: gard_rare {source="GARD:16335", source="MONDO:GARD"}
subset: rare
synonym: "HYPOTRICHOSIS 14" RELATED [OMIM:618275]
synonym: "HYPT14" RELATED ABBREVIATION [OMIM:618275]
xref: DOID:0080582 {source="MONDO:equivalentTo"}
xref: GARD:16335 {source="MONDO:GARD"}
xref: MEDGEN:1648477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618275 {source="MONDO:equivalentTo"}
xref: Orphanet:55654 {source="OMIM:618275"}
xref: UMLS:C4748930 {source="MEDGEN:1648477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003037 {source="OMIM:618275"} ! hypotrichosis
is_a: MONDO:0003847 {source="OMIM:618275"} ! hereditary disease

[Term]
id: MONDO:0032650
name: neurodegeneration, childhood-onset, with cerebellar atrophy
synonym: "CONDCA" RELATED ABBREVIATION [OMIM:618276]
synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY" RELATED [OMIM:618276]
xref: MEDGEN:1648286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618276 {source="MONDO:equivalentTo"}
xref: UMLS:C4748934 {source="MEDGEN:1648286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618276"} ! hereditary disease

[Term]
id: MONDO:0032651
name: fibrosis, neurodegeneration, and cerebral angiomatosis
synonym: "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS" RELATED [OMIM:618278]
synonym: "FINCA" RELATED ABBREVIATION [OMIM:618278]
synonym: "FINCA syndrome" EXACT [OMIM:618278, OMIM:genemap2]
xref: MEDGEN:1648312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618278 {source="MONDO:equivalentTo"}
xref: UMLS:C4748939 {source="MEDGEN:1648312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618278"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032653
name: cardiac-urogenital syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647811"}
subset: orphanet_rare {source="Orphanet:647811"}
subset: rare
synonym: "CARDIAC-UROGENITAL SYNDROME" EXACT [OMIM:618280]
synonym: "CUGS" EXACT ABBREVIATION [OMIM:618280]
xref: MEDGEN:1648333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618280 {source="MONDO:equivalentTo"}
xref: Orphanet:647811 {source="MONDO:equivalentTo"}
xref: UMLS:C4748946 {source="MEDGEN:1648333", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618280"} ! hereditary disease

[Term]
id: MONDO:0032654
name: hyper-IgE recurrent infection syndrome 3, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HIES3" RELATED ABBREVIATION [OMIM:618282]
synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE" RELATED [OMIM:618282]
xref: DOID:0080595 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618282 {source="MONDO:equivalentTo"}
xref: UMLS:C4748969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648483"}
is_a: MONDO:0003847 {source="OMIM:618282"} ! hereditary disease
is_a: MONDO:0018037 {source="OMIM:618282"} ! hyper-IgE syndrome

[Term]
id: MONDO:0032655
name: visual impairment and progressive phthisis bulbi
synonym: "VIPB" RELATED ABBREVIATION [OMIM:618283]
synonym: "VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI" RELATED [OMIM:618283]
xref: DOID:0070356 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618283 {source="MONDO:equivalentTo"}
xref: UMLS:C4748978 {source="MEDGEN:1648430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618283"} ! hereditary disease

[Term]
id: MONDO:0032656
name: microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
synonym: "MCIDDS" RELATED ABBREVIATION [OMIM:618284]
synonym: "MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM" RELATED [OMIM:618284]
xref: MEDGEN:1648355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618284 {source="MONDO:equivalentTo"}
xref: UMLS:C4748984 {source="MEDGEN:1648355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618284"} ! hereditary disease

[Term]
id: MONDO:0032657
name: developmental and epileptic encephalopathy, 69
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE69" EXACT ABBREVIATION [OMIM:618285]
synonym: "developmental and epileptic encephalopathy 69" EXACT [OMIM:618285, OMIM:genemap2]
synonym: "EIEE69" EXACT ABBREVIATION [OMIM:618285]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69" EXACT [OMIM:618285]
synonym: "epileptic encephalopathy, early infantile, 69" EXACT [OMIM:618285]
xref: DOID:0112205 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618285 {source="MONDO:equivalentTo"}
xref: UMLS:C4748988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648381"}
is_a: MONDO:0003847 {source="OMIM:618285"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618285"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032658
name: macrocephaly, acquired, with impaired intellectual development
synonym: "MACID" RELATED ABBREVIATION [OMIM:618286]
synonym: "MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618286]
synonym: "Macrocephaly, Acquired, With Mental Retardation" RELATED [OMIM:618286]
xref: MEDGEN:1648471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618286 {source="MONDO:equivalentTo"}
xref: UMLS:C4748993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648471"}
is_a: MONDO:0003847 {source="OMIM:618286"} ! hereditary disease

[Term]
id: MONDO:0032659
name: mucocutaneous ulceration, chronic
synonym: "CMCU" RELATED ABBREVIATION [OMIM:618287]
synonym: "MUCOCUTANEOUS ULCERATION, CHRONIC" RELATED [OMIM:618287]
xref: MEDGEN:1648375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618287 {source="MONDO:equivalentTo"}
xref: UMLS:C4748997 {source="MEDGEN:1648375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618287"} ! hereditary disease

[Term]
id: MONDO:0032660
name: spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SMALED2B" RELATED ABBREVIATION [OMIM:618291]
synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" EXACT [OMIM:618291, OMIM:genemap2]
synonym: "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT" RELATED [OMIM:618291]
xref: DOID:0070350 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618291 {source="MONDO:equivalentTo"}
xref: UMLS:C4749003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648362"}
is_a: MONDO:0003847 {source="OMIM:618291"} ! hereditary disease
is_a: MONDO:0018190 {source="OMIM:618291"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032661
name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
subset: gard_rare {source="GARD:18515", source="MONDO:GARD"}
subset: rare
synonym: "NEDIDHA" RELATED ABBREVIATION [OMIM:618292]
synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA" RELATED [OMIM:618292]
xref: GARD:18515 {source="MONDO:GARD"}
xref: MEDGEN:1648291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618292 {source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="OMIM:618292"}
xref: UMLS:C4749014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648291"}
is_a: MONDO:0003847 {source="OMIM:618292"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032662
name: intellectual developmental disorder, autosomal recessive 67
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67" RELATED [OMIM:618295]
synonym: "Mental Retardation, Autosomal Recessive 67" RELATED [OMIM:618295]
synonym: "MRT67" RELATED ABBREVIATION [OMIM:618295]
xref: DOID:0081228 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618295 {source="MONDO:equivalentTo"}
xref: UMLS:C4749019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648350"}
is_a: MONDO:0003847 {source="OMIM:618295"} ! hereditary disease
is_a: MONDO:0019502 {source="OMIM:618295"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0032663
name: developmental and epileptic encephalopathy, 70
subset: gard_rare {source="GARD:16336", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE70" EXACT ABBREVIATION [OMIM:618298]
synonym: "developmental and epileptic encephalopathy 70" EXACT [OMIM:618298, OMIM:genemap2]
synonym: "EIEE70" EXACT ABBREVIATION [OMIM:618298]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70" EXACT [OMIM:618298]
synonym: "epileptic encephalopathy, early infantile, 70" EXACT [OMIM:618298]
xref: DOID:0112206 {source="MONDO:equivalentTo"}
xref: GARD:16336 {source="MONDO:GARD"}
xref: MEDGEN:1648407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618298 {source="MONDO:equivalentTo"}
xref: Orphanet:3451 {source="OMIM:618298"}
xref: UMLS:C4749023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648407"}
is_a: MONDO:0003847 {source="OMIM:618298"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618298"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032664
name: ciliary dyskinesia, primary, 40
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CILD40" RELATED ABBREVIATION [OMIM:618300]
synonym: "CILIARY DYSKINESIA, PRIMARY, 40" RELATED [OMIM:618300]
synonym: "Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus" RELATED [OMIM:618300]
xref: DOID:0111853 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618300 {source="MONDO:equivalentTo"}
xref: UMLS:C4749028 {source="MEDGEN:1648365", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618300"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:618300"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0032665
name: intellectual developmental disorder, autosomal recessive 68
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68" RELATED [OMIM:618302]
synonym: "Mental Retardation, Autosomal Recessive 68" RELATED [OMIM:618302]
synonym: "MRT68" RELATED ABBREVIATION [OMIM:618302]
xref: DOID:0081229 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618302 {source="MONDO:equivalentTo"}
xref: UMLS:C4749033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648490"}
is_a: MONDO:0003847 {source="OMIM:618302"} ! hereditary disease
is_a: MONDO:0019502 {source="OMIM:618302"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0032666
name: epidermodysplasia verruciformis, susceptibility to, 4
subset: clingen {source="MONDO:CLINGEN"}
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4" RELATED [OMIM:618307]
synonym: "EV4" RELATED ABBREVIATION [OMIM:618307]
xref: MEDGEN:1648396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176608 {source="MONDO:equivalentTo"}
xref: OMIM:618307 {source="MONDO:equivalentTo"}
xref: Orphanet:324294 {source="OMIM:618307"}
xref: UMLS:C4749042 {source="MEDGEN:1648396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100043 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618307", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0009176 {source="OMIM:618307"} ! epidermodysplasia verruciformis

[Term]
id: MONDO:0032667
name: epidermodysplasia verruciformis, susceptibility to, 5
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5" RELATED [OMIM:618309]
synonym: "EV5" RELATED ABBREVIATION [OMIM:618309]
xref: MEDGEN:1648489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618309 {source="MONDO:equivalentTo"}
xref: Orphanet:302 {source="OMIM:618309"}
xref: UMLS:C4749043 {source="MEDGEN:1648489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100043 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618309", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0009176 {source="OMIM:618309"} ! epidermodysplasia verruciformis

[Term]
id: MONDO:0032668
name: Diamond-Blackfan anemia 18
subset: gard_rare {source="GARD:16338", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA18" RELATED ABBREVIATION [OMIM:618310]
synonym: "DIAMOND-BLACKFAN ANEMIA 18" RELATED [OMIM:618310]
xref: DOID:0111896 {source="MONDO:equivalentTo"}
xref: GARD:16338 {source="MONDO:GARD"}
xref: MEDGEN:1681154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618310 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:618310"}
xref: UMLS:C5193020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681154"}
is_a: MONDO:0003847 {source="OMIM:618310"} ! hereditary disease
is_a: MONDO:0015253 {source="OMIM:618310"} ! Diamond-Blackfan anemia

[Term]
id: MONDO:0032669
name: Diamond-Blackfan anemia 19
subset: gard_rare {source="GARD:16339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA19" RELATED ABBREVIATION [OMIM:618312]
synonym: "DIAMOND-BLACKFAN ANEMIA 19" RELATED [OMIM:618312]
xref: DOID:0111886 {source="MONDO:equivalentTo"}
xref: GARD:16339 {source="MONDO:GARD"}
xref: MEDGEN:1683070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618312 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:618312"}
xref: UMLS:C5193021 {source="MEDGEN:1683070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618312"} ! hereditary disease
is_a: MONDO:0015253 {source="OMIM:618312"} ! Diamond-Blackfan anemia

[Term]
id: MONDO:0032670
name: Diamond-Blackfan anemia 20
subset: gard_rare {source="GARD:16340", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA20" RELATED ABBREVIATION [OMIM:618313]
synonym: "DIAMOND-BLACKFAN ANEMIA 20" RELATED [OMIM:618313]
xref: DOID:0111891 {source="MONDO:equivalentTo"}
xref: GARD:16340 {source="MONDO:GARD"}
xref: MEDGEN:1674961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618313 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:618313"}
xref: UMLS:C5193022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674961"}
is_a: MONDO:0003847 {source="OMIM:618313"} ! hereditary disease
is_a: MONDO:0015253 {source="OMIM:618313"} ! Diamond-Blackfan anemia

[Term]
id: MONDO:0032672
name: intellectual developmental disorder with cardiac defects and dysmorphic facies
def: "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin." [Orphanet:562569]
subset: gard_rare {source="GARD:17998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:562569"}
subset: orphanet_rare {source="Orphanet:562569"}
subset: rare
synonym: "IDDCDF" RELATED ABBREVIATION [OMIM:618316]
synonym: "intellectual developmental disorder with cardiac defects and dysmorphic facies" EXACT [OMIM:618316]
synonym: "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:562569]
xref: GARD:17998 {source="MONDO:GARD"}
xref: MEDGEN:1675627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618316 {source="MONDO:equivalentTo"}
xref: Orphanet:562569 {source="OMIM:618316", source="MONDO:equivalentTo"}
xref: UMLS:C5193024 {source="MEDGEN:1675627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618316"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7580" xsd:anyURI

[Term]
id: MONDO:0032673
name: basal ganglia calcification, idiopathic, 7, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE" RELATED [OMIM:618317]
synonym: "IBGC7" RELATED ABBREVIATION [OMIM:618317]
xref: MEDGEN:1683911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618317 {source="MONDO:equivalentTo"}
xref: UMLS:C5193025 {source="MEDGEN:1683911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618317"} ! hereditary disease
is_a: MONDO:0008947 {source="OMIM:618317"} ! bilateral striopallidodentate calcinosis
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0032675
name: myasthenic syndrome, congenital, 25, presynaptic
subset: gard_rare {source="GARD:16341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS25" RELATED ABBREVIATION [OMIM:618323]
synonym: "myasthenic syndrome, congenital, 25" EXACT [OMIM:618323, OMIM:genemap2]
synonym: "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC" RELATED [OMIM:618323]
xref: GARD:16341 {source="MONDO:GARD"}
xref: MEDGEN:1683288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618323 {source="MONDO:equivalentTo"}
xref: Orphanet:98914 {source="OMIM:618323"}
xref: UMLS:C5193027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683288"}
is_a: MONDO:0003847 {source="OMIM:618323"} ! hereditary disease
is_a: MONDO:0018940 {source="OMIM:618323"} ! congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032677
name: lissencephaly 9 with complex brainstem malformation
subset: gard_rare {source="GARD:18007", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:572013"}
subset: orphanet_rare {source="Orphanet:572013"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LIS9" RELATED ABBREVIATION [OMIM:618325]
synonym: "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION" RELATED [OMIM:618325]
xref: DOID:0112228 {source="MONDO:equivalentTo"}
xref: GARD:18007 {source="MONDO:GARD"}
xref: MEDGEN:1681109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618325 {source="MONDO:equivalentTo"}
xref: Orphanet:572013 {source="MONDO:equivalentTo"}
xref: UMLS:C5193029 {source="MEDGEN:1681109", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618325"} ! hereditary disease
is_a: MONDO:0018838 {source="OMIM:618325"} ! lissencephaly spectrum disorders
is_a: MONDO:0100472 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! lissencephaly spectrum disorder with complex brainstem malformation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6271" xsd:anyURI

[Term]
id: MONDO:0032678
name: developmental and epileptic encephalopathy, 71
subset: gard_rare {source="GARD:17994", source="MONDO:GARD"}
subset: mondo_rare {source="PMID:30575854"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:557064"}
subset: orphanet_rare {source="Orphanet:557064"}
subset: rare
synonym: "DEE71" EXACT ABBREVIATION [OMIM:618328]
synonym: "developmental and epileptic encephalopathy 71" EXACT [OMIM:618328, OMIM:genemap2]
synonym: "EIEE71" EXACT ABBREVIATION [OMIM:618328]
synonym: "epileptic encephalopathy, early infantile, 71" EXACT [OMIM:618328]
synonym: "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy" RELATED [OMIM:618328]
synonym: "neonatal epileptic encephalopathy due to glutaminase deficiency" EXACT [MONDO:0034147]
xref: DOID:0112207 {source="MONDO:equivalentTo"}
xref: GARD:17994 {source="MONDO:GARD"}
xref: MEDGEN:1680812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618328 {source="MONDO:equivalentTo"}
xref: Orphanet:557064 {source="MONDO:equivalentTo"}
xref: UMLS:C5193030 {source="MEDGEN:1680812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618328"} ! hereditary disease
is_a: MONDO:0019052 {source="Orphanet:557064", source="PMID:30575854"} ! inborn errors of metabolism
is_a: MONDO:0100062 {source="OMIM:618328"} ! developmental and epileptic encephalopathy
is_a: MONDO:0600001 {source="Orphanet:557064", source="PMID:30575854", source="https://orcid.org/0000-0002-7437-8060"} ! glutaminase deficiency
relationship: excluded_subClassOf MONDO:0017352 {source="Orphanet:557064", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glutamine metabolism
relationship: has_characteristic MONDO:0021136 {source="Orphanet:557064", source="PMID:30575854"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4331 {source="OMIM:618328", source="Orphanet:557064", source="PMID:30575854"} ! GLS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2982" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6329" xsd:anyURI

[Term]
id: MONDO:0032679
name: combined oxidative phosphorylation deficiency 37
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37" RELATED [OMIM:618329]
synonym: "COXPD37" RELATED ABBREVIATION [OMIM:618329]
xref: DOID:0111499 {source="MONDO:equivalentTo"}
xref: MEDGEN:1675208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618329 {source="MONDO:equivalentTo"}
xref: UMLS:C5193031 {source="MEDGEN:1675208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:618329"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="OMIM:618329"} ! hereditary disease

[Term]
id: MONDO:0032680
name: global developmental delay with or without impaired intellectual development
subset: gard_rare {source="GARD:16477", source="MONDO:GARD"}
subset: rare
synonym: "GDDI" RELATED ABBREVIATION [OMIM:618330]
synonym: "GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618330]
xref: GARD:16477 {source="MONDO:GARD"}
xref: MEDGEN:1675328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618330 {source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="OMIM:618330"}
xref: UMLS:C5193032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675328"}
is_a: MONDO:0003847 {source="OMIM:618330"} ! hereditary disease

[Term]
id: MONDO:0032681
name: encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
subset: otar {source="MONDO:OTAR"}
synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS" RELATED [OMIM:618331]
synonym: "PEERB" RELATED ABBREVIATION [OMIM:618331]
xref: MEDGEN:1682670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618331 {source="MONDO:equivalentTo"}
xref: UMLS:C5193033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682670"}
is_a: MONDO:0003847 {source="OMIM:618331"} ! hereditary disease
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0032684
name: intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMAGE-I syndrome" EXACT [OMIM:618336, OMIM:genemap2]
synonym: "IMAGEI" RELATED ABBREVIATION [OMIM:618336]
synonym: "Imagei Syndrome" RELATED [OMIM:618336]
synonym: "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY" RELATED [OMIM:618336]
xref: MEDGEN:1684464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618336 {source="MONDO:equivalentTo"}
xref: UMLS:C5193036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684464"}
is_a: MONDO:0003847 {source="OMIM:618336"} ! hereditary disease
is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0032685
name: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
subset: clingen {source="MONDO:CLINGEN"}
synonym: "CASGID" RELATED ABBREVIATION [OMIM:618339]
synonym: "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618339]
synonym: "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" EXACT CLINGEN_LABEL []
xref: MEDGEN:1673640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618339 {source="MONDO:equivalentTo"}
xref: UMLS:C5193037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673640"}
is_a: MONDO:0003847 {source="OMIM:618339"} ! hereditary disease

[Term]
id: MONDO:0032686
name: spermatogenic failure 35
synonym: "SPERMATOGENIC FAILURE 35" RELATED [OMIM:618341]
synonym: "SPGF35" RELATED ABBREVIATION [OMIM:618341]
xref: DOID:0111914 {source="MONDO:equivalentTo"}
xref: MEDGEN:1679765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618341 {source="MONDO:equivalentTo"}
xref: UMLS:C5193038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679765"}
is_a: MONDO:0003847 {source="OMIM:618341"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618341"} ! spermatogenic failure

[Term]
id: MONDO:0032687
name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
subset: gard_rare {source="GARD:18516", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDDABS" RELATED ABBREVIATION [OMIM:618342]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE" RELATED [OMIM:618342]
xref: DOID:0081265 {source="MONDO:equivalentTo"}
xref: GARD:18516 {source="MONDO:GARD"}
xref: MEDGEN:1675423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618342 {source="MONDO:equivalentTo"}
xref: UMLS:C5193039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675423"}
is_a: MONDO:0003847 {source="OMIM:618342"} ! hereditary disease

[Term]
id: MONDO:0032688
name: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:636941"}
subset: orphanet_rare {source="Orphanet:636941"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PMGEDSV" RELATED ABBREVIATION [OMIM:618343]
synonym: "polymicrogyria with or without vascular-type EDS" EXACT [OMIM:618343, OMIM:genemap2]
synonym: "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" RELATED [OMIM:618343]
synonym: "vascular Ehlers-Danlos-polymicrogyria syndrome" EXACT [Orphanet:636941]
xref: MEDGEN:1675672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618343 {source="MONDO:equivalentTo"}
xref: Orphanet:636941 {source="MONDO:equivalentTo"}
xref: UMLS:C5193040 {source="MEDGEN:1675672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618343"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032689
name: retinitis pigmentosa 85
subset: gard_rare {source="GARD:16342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RETINITIS PIGMENTOSA 85" RELATED [OMIM:618345]
synonym: "RP85" RELATED ABBREVIATION [OMIM:618345]
xref: DOID:0112142 {source="MONDO:equivalentTo"}
xref: GARD:16342 {source="MONDO:GARD"}
xref: MEDGEN:1682947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618345 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:618345"}
xref: UMLS:C5193041 {source="MONDO:equivalentTo", source="MEDGEN:1682947", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618345"} ! hereditary disease
is_a: MONDO:0019200 {source="OMIM:618345"} ! retinitis pigmentosa

[Term]
id: MONDO:0032690
name: microcephaly, growth deficiency, seizures, and brain malformations
synonym: "MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS" RELATED [OMIM:618346]
synonym: "MIGSB" RELATED ABBREVIATION [OMIM:618346]
xref: DOID:0081051 {source="MONDO:equivalentTo"}
xref: MEDGEN:1676229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618346 {source="MONDO:equivalentTo"}
xref: UMLS:C5193042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676229"}
is_a: MONDO:0003847 {source="OMIM:618346"} ! hereditary disease

[Term]
id: MONDO:0032691
name: Galloway-Mowat syndrome 6
subset: gard_rare {source="GARD:16343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GALLOWAY-MOWAT SYNDROME 6" RELATED [OMIM:618347]
synonym: "GAMOS6" RELATED ABBREVIATION [OMIM:618347]
xref: GARD:16343 {source="MONDO:GARD"}
xref: MEDGEN:1674560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618347 {source="MONDO:equivalentTo"}
xref: Orphanet:2065 {source="OMIM:618347"}
xref: UMLS:C5193043 {source="MONDO:equivalentTo", source="MEDGEN:1674560", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618347"} ! hereditary disease
is_a: MONDO:0009627 {source="OMIM:618347"} ! Galloway-Mowat syndrome

[Term]
id: MONDO:0032692
name: Galloway-Mowat syndrome 7
subset: gard_rare {source="GARD:16344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GALLOWAY-MOWAT SYNDROME 7" RELATED [OMIM:618348]
synonym: "GAMOS7" RELATED ABBREVIATION [OMIM:618348]
xref: GARD:16344 {source="MONDO:GARD"}
xref: MEDGEN:1679283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618348 {source="MONDO:equivalentTo"}
xref: Orphanet:2065 {source="OMIM:618348"}
xref: UMLS:C5193044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679283"}
is_a: MONDO:0003847 {source="OMIM:618348"} ! hereditary disease
is_a: MONDO:0009627 {source="OMIM:618348"} ! Galloway-Mowat syndrome

[Term]
id: MONDO:0032693
name: Galloway-Mowat syndrome 8
subset: gard_rare {source="GARD:16345", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GALLOWAY-MOWAT SYNDROME 8" RELATED [OMIM:618349]
synonym: "GAMOS8" RELATED ABBREVIATION [OMIM:618349]
xref: GARD:16345 {source="MONDO:GARD"}
xref: MEDGEN:1675829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618349 {source="MONDO:equivalentTo"}
xref: Orphanet:2065 {source="OMIM:618349"}
xref: UMLS:C5193045 {source="MEDGEN:1675829", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618349"} ! hereditary disease
is_a: MONDO:0009627 {source="OMIM:618349"} ! Galloway-Mowat syndrome

[Term]
id: MONDO:0032694
name: microcephaly 25, primary, autosomal recessive
subset: gard_rare {source="GARD:16346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH25" RELATED ABBREVIATION [OMIM:618351]
synonym: "MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE" RELATED [OMIM:618351]
xref: GARD:16346 {source="MONDO:GARD"}
xref: MEDGEN:1674123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618351 {source="MONDO:equivalentTo"}
xref: UMLS:C5193046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674123"}
is_a: MONDO:0003847 {source="OMIM:618351"} ! hereditary disease
is_a: MONDO:0016660 {source="OMIM:618351"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0032696
name: oocyte maturation defect 6
synonym: "OOCYTE MATURATION DEFECT 6" RELATED [OMIM:618353]
synonym: "OOMD6" RELATED ABBREVIATION [OMIM:618353]
xref: MEDGEN:1682649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618353 {source="MONDO:equivalentTo"}
xref: Orphanet:404466 {source="OMIM:618353"}
xref: UMLS:C5193047 {source="MEDGEN:1682649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618353"} ! hereditary disease
is_a: MONDO:0014769 {source="OMIM:618353"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0032697
name: Houge-Janssens syndrome 3
subset: otar {source="MONDO:OTAR"}
synonym: "NEDLBA" EXACT ABBREVIATION [OMIM:618354]
synonym: "neurodevelopmental disorder and language delay with or without structural brain abnormalities" EXACT [OMIM:618354]
xref: MEDGEN:1677130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618354 {source="MONDO:equivalentTo"}
xref: UMLS:C5193048 {source="MEDGEN:1677130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618354"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
is_a: MONDO:0957553 {source="OMIM:618354"} ! Houge-Janssens syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6531" xsd:anyURI

[Term]
id: MONDO:0032698
name: neurodevelopmental disorder with central and peripheral motor dysfunction
subset: otar {source="MONDO:OTAR"}
synonym: "NEDCPMD" RELATED ABBREVIATION [OMIM:618356]
synonym: "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION" RELATED [OMIM:618356]
xref: MEDGEN:1674767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618356 {source="MONDO:equivalentTo"}
xref: UMLS:C5193049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674767"}
is_a: MONDO:0003847 {source="OMIM:618356"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032699
name: epilepsy, idiopathic generalized, susceptibility to, 15
synonym: "EIG15" RELATED ABBREVIATION [OMIM:618357]
synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15" RELATED [OMIM:618357]
xref: DOID:0111316 {source="MONDO:equivalentTo"}
xref: MEDGEN:1675524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618357 {source="MONDO:equivalentTo"}
xref: UMLS:C5193050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675524"}
is_a: MONDO:0020573 {source="OMIM:618357"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618357", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:618357", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:618357"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0032702
name: Coffin-Siris syndrome 8
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene." [MONDO:patterns/OMIM_disease_series_by_gene]
comment: Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466
subset: gard_rare {source="GARD:16347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COFFIN-SIRIS SYNDROME 8" RELATED [OMIM:618362]
synonym: "CSS8" RELATED ABBREVIATION [OMIM:618362]
synonym: "SMARCC2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
xref: DOID:0112367 {source="MONDO:equivalentTo"}
xref: GARD:16347 {source="MONDO:GARD"}
xref: MEDGEN:1679527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618362 {source="MONDO:equivalentTo"}
xref: Orphanet:1465 {source="OMIM:618362"}
xref: UMLS:C5193054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679527"}
is_a: MONDO:0003847 {source="OMIM:618362"} ! hereditary disease
is_a: MONDO:0015452 {source="OMIM:618362"} ! Coffin-Siris syndrome
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: excluded_subClassOf MONDO:0015802 {source="OMIM:618362", source="https://github.com/monarch-initiative/mondo/issues/1466", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11105 {source="OMIM:618362", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0032703
name: short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS" RELATED [OMIM:618363]
synonym: "SSASKS" RELATED ABBREVIATION [OMIM:618363]
xref: MEDGEN:1676818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618363 {source="MONDO:equivalentTo"}
xref: UMLS:C5193055 {source="MEDGEN:1676818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618363"} ! hereditary disease
is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0032705
name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
subset: gard_rare {source="GARD:18018", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597874"}
subset: orphanet_rare {source="Orphanet:597874"}
subset: rare
synonym: "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome" EXACT [MONDO:0035369]
synonym: "NEDMEHM" EXACT ABBREVIATION [OMIM:618367]
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION" EXACT [OMIM:618367]
xref: GARD:18018 {source="MONDO:GARD"}
xref: MEDGEN:1684142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618367 {source="MONDO:equivalentTo"}
xref: Orphanet:597874 {source="MONDO:equivalentTo"}
xref: UMLS:C5193057 {source="MEDGEN:1684142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618367"} ! hereditary disease
is_a: MONDO:0017313 {source="Orphanet:597874"} ! disorder of folate metabolism and transport
is_a: MONDO:0019046 {source="Orphanet:597874"} ! leukodystrophy
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3542" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032706
name: spinocerebellar ataxia, autosomal recessive 27
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SCAR27" RELATED ABBREVIATION [OMIM:618369]
synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27" RELATED [OMIM:618369]
xref: DOID:0111616 {source="MONDO:equivalentTo"}
xref: MEDGEN:1672866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618369 {source="MONDO:equivalentTo"}
xref: UMLS:C5193058 {source="MEDGEN:1672866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618369"} ! hereditary disease
is_a: MONDO:0015244 {source="OMIM:618369"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0032707
name: turnpenny-fry syndrome
subset: clingen {source="MONDO:CLINGEN"}
synonym: "Neurocardioskeletal Syndrome" RELATED [OMIM:618371]
synonym: "TPFS" RELATED ABBREVIATION [OMIM:618371]
synonym: "TURNPENNY-FRY SYNDROME" RELATED [OMIM:618371]
xref: MEDGEN:1683283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618371 {source="MONDO:equivalentTo"}
xref: UMLS:C5193060 {source="MONDO:equivalentTo", source="MEDGEN:1683283", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618371"} ! hereditary disease

[Term]
id: MONDO:0032710
name: developmental and epileptic encephalopathy, 72
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE72" EXACT ABBREVIATION [OMIM:618374]
synonym: "developmental and epileptic encephalopathy 72" EXACT [OMIM:618374, OMIM:genemap2]
synonym: "EIEE72" EXACT ABBREVIATION [OMIM:618374]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72" EXACT [OMIM:618374]
synonym: "epileptic encephalopathy, early infantile, 72" EXACT [OMIM:618374]
xref: DOID:0112208 {source="MONDO:equivalentTo"}
xref: MEDGEN:1681879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618374 {source="MONDO:equivalentTo"}
xref: UMLS:C5193063 {source="MEDGEN:1681879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618374"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618374"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032712
name: combined oxidative phosphorylation deficiency 38
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38" RELATED [OMIM:618378]
synonym: "COXPD38" RELATED ABBREVIATION [OMIM:618378]
xref: DOID:0111466 {source="MONDO:equivalentTo"}
xref: MEDGEN:1682102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618378 {source="MONDO:equivalentTo"}
xref: UMLS:C5193064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682102"}
is_a: MONDO:0000732 {source="OMIM:618378"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="OMIM:618378"} ! hereditary disease

[Term]
id: MONDO:0032714
name: facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
subset: gard_rare {source="GARD:18019", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:598603"}
subset: orphanet_rare {source="Orphanet:598603"}
subset: rare
synonym: "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME" RELATED [OMIM:618381]
synonym: "FHEIG" RELATED ABBREVIATION [OMIM:618381]
xref: GARD:18019 {source="MONDO:GARD"}
xref: MEDGEN:1679105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618381 {source="MONDO:equivalentTo"}
xref: Orphanet:598603 {source="MONDO:equivalentTo"}
xref: UMLS:C5193066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679105"}
is_a: MONDO:0003847 {source="OMIM:618381"} ! hereditary disease

[Term]
id: MONDO:0032715
name: intellectual developmental disorder, autosomal recessive 69
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69" RELATED [OMIM:618383]
synonym: "Mental Retardation, Autosomal Recessive 69" RELATED [OMIM:618383]
synonym: "MRT69" RELATED ABBREVIATION [OMIM:618383]
xref: DOID:0081230 {source="MONDO:equivalentTo"}
xref: MEDGEN:1676539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618383 {source="MONDO:equivalentTo"}
xref: UMLS:C5193067 {source="MEDGEN:1676539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618383"} ! hereditary disease
is_a: MONDO:0019502 {source="OMIM:618383"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0032716
name: leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
subset: gard_rare {source="GARD:18035", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:615964"}
subset: orphanet_rare {source="Orphanet:615964"}
subset: rare
synonym: "acute reversible leukoencephalopathy due to SLC13A3 deficiency" EXACT [Orphanet:615964]
synonym: "acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency" EXACT [Orphanet:615964]
synonym: "acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate" EXACT [Orphanet:615964]
synonym: "ARLIAK" RELATED ABBREVIATION [OMIM:618384]
synonym: "LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE" RELATED [OMIM:618384]
xref: GARD:18035 {source="MONDO:GARD"}
xref: MEDGEN:1677730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618384 {source="MONDO:equivalentTo"}
xref: Orphanet:615964 {source="MONDO:equivalentTo"}
xref: UMLS:C5193068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677730"}
is_a: MONDO:0003847 {source="OMIM:618384"} ! hereditary disease
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0032717
name: amelogenesis imperfecta, type 3C
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AI3C" RELATED ABBREVIATION [OMIM:618386]
synonym: "Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive" RELATED [OMIM:618386]
synonym: "AMELOGENESIS IMPERFECTA, TYPE IIIC" RELATED [OMIM:618386]
xref: DOID:0111722 {source="MONDO:equivalentTo"}
xref: MEDGEN:1676410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618386 {source="MONDO:equivalentTo"}
xref: UMLS:C5193069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676410"}
is_a: MONDO:0003847 {source="OMIM:618386"} ! hereditary disease
is_a: MONDO:0019507 {source="OMIM:618386"} ! amelogenesis imperfecta
is_a: MONDO:0968955 {source="https://orcid.org/0000-0001-5493-2602"} ! hypocalcified amelogenesis imperfecta

[Term]
id: MONDO:0032721
name: spondyloepiphyseal dysplasia, kondo-fu type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2027"}
subset: rare
synonym: "Sed With Elevated Blood Lysosomal Enzymes" RELATED [OMIM:618392]
synonym: "SEDKF" RELATED ABBREVIATION [OMIM:618392]
synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE" RELATED [OMIM:618392]
xref: DOID:0112283 {source="MONDO:equivalentTo"}
xref: MEDGEN:1683128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:2027 {source="MONDO:NORD"}
xref: OMIM:618392 {source="MONDO:equivalentTo"}
xref: UMLS:C5193071 {source="MEDGEN:1683128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618392"} ! hereditary disease
is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0032723
name: immunodeficiency 60
subset: clingen {source="MONDO:CLINGEN"}
synonym: "IMD60" RELATED ABBREVIATION [OMIM:618394]
synonym: "IMMUNODEFICIENCY 60" RELATED [OMIM:618394]
synonym: "immunodeficiency 60 and autoimmunity" EXACT [OMIM:618394, OMIM:genemap2]
synonym: "Immunodeficiency and Autoimmunity, Bach2-Related" RELATED [OMIM:618394]
xref: DOID:0111954 {source="MONDO:equivalentTo"}
xref: MEDGEN:1681890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618394 {source="MONDO:equivalentTo"}
xref: UMLS:C5193072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681890"}
is_a: MONDO:0003847 {source="OMIM:618394"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618394"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032724
name: spondyloepimetaphyseal dysplasia with joint laxity, type 3
subset: gard_rare {source="GARD:16348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:642085"}
subset: orphanet_rare {source="Orphanet:642085"}
subset: rare
synonym: "SEMDJL3" EXACT ABBREVIATION [DOID:0112200]
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type" EXACT [Orphanet:642085]
synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3" RELATED [OMIM:618395]
xref: DOID:0112200 {source="MONDO:equivalentTo"}
xref: GARD:16348 {source="MONDO:GARD"}
xref: MEDGEN:1677378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618395 {source="MONDO:equivalentTo", source="DOID:0112200"}
xref: Orphanet:642085 {source="MONDO:equivalentTo"}
xref: Orphanet:93359 {source="OMIM:618395"}
xref: UMLS:C5193073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677378"}
is_a: MONDO:0003847 {source="OMIM:618395"} ! hereditary disease
is_a: MONDO:0006025 {source="DOID:0112200"} ! autosomal recessive disease
is_a: MONDO:0019675 {source="OMIM:618395"} ! spondyloepimetaphyseal dysplasia with joint laxity
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0032725
name: developmental and epileptic encephalopathy, 74
subset: gard_rare {source="GARD:16349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE74" EXACT ABBREVIATION [OMIM:618396]
synonym: "developmental and epileptic encephalopathy 74" EXACT [OMIM:618396, OMIM:genemap2]
synonym: "EIEE74" EXACT ABBREVIATION [OMIM:618396]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74" EXACT [OMIM:618396]
synonym: "epileptic encephalopathy, early infantile, 74" EXACT [OMIM:618396]
xref: DOID:0112210 {source="MONDO:equivalentTo"}
xref: GARD:16349 {source="MONDO:GARD"}
xref: MEDGEN:1680535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618396 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:618396"}
xref: UMLS:C5193074 {source="MEDGEN:1680535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618396"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618396"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032726
name: combined oxidative phosphorylation deficiency 39
subset: gard_rare {source="GARD:17999", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:565624"}
subset: orphanet_rare {source="Orphanet:565624"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39" RELATED [OMIM:618397]
synonym: "COXPD39" RELATED ABBREVIATION [OMIM:618397]
xref: DOID:0111475 {source="MONDO:equivalentTo"}
xref: GARD:17999 {source="MONDO:GARD"}
xref: MEDGEN:1683958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618397 {source="MONDO:equivalentTo"}
xref: Orphanet:565624 {source="MONDO:equivalentTo", source="OMIM:618397"}
xref: UMLS:C5193075 {source="MEDGEN:1683958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:618397"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="OMIM:618397"} ! hereditary disease

[Term]
id: MONDO:0032728
name: Charcot-Marie-Tooth disease, axonal, type 2EE
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE" RELATED [OMIM:618400]
synonym: "Charcot-Marie-Tooth Neuropathy, Type 2Ee" RELATED [OMIM:618400]
synonym: "CMT2EE" RELATED ABBREVIATION [OMIM:618400]
xref: DOID:0111559 {source="MONDO:equivalentTo"}
xref: MEDGEN:1677426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618400 {source="MONDO:equivalentTo"}
xref: UMLS:C5193076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677426"}
is_a: MONDO:0003847 {source="OMIM:618400"} ! hereditary disease
is_a: MONDO:0018993 {source="OMIM:618400", source="https://orcid.org/0000-0002-6601-2165"} ! Charcot-Marie-Tooth disease type 2

[Term]
id: MONDO:0032729
name: intellectual developmental disorder, autosomal recessive 70
subset: gard_rare {source="GARD:22580", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70" RELATED [OMIM:618402]
synonym: "Mental Retardation, Autosomal Recessive 70" RELATED [OMIM:618402]
synonym: "MRT70" RELATED ABBREVIATION [OMIM:618402]
xref: DOID:0081231 {source="MONDO:equivalentTo"}
xref: GARD:22580 {source="MONDO:GARD"}
xref: MEDGEN:1679317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618402 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:618402"}
xref: UMLS:C5193077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679317"}
is_a: MONDO:0003847 {source="OMIM:618402"} ! hereditary disease
is_a: MONDO:0019502 {source="OMIM:618402"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0032730
name: leukodystrophy, hypomyelinating, 18
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD18" RELATED ABBREVIATION [OMIM:618404]
synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 18" RELATED [OMIM:618404]
xref: DOID:0070399 {source="MONDO:equivalentTo"}
xref: MEDGEN:1680067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618404 {source="MONDO:equivalentTo"}
xref: UMLS:C5193078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680067"}
is_a: MONDO:0003847 {source="OMIM:618404"} ! hereditary disease
is_a: MONDO:0019046 {source="OMIM:618404"} ! leukodystrophy

[Term]
id: MONDO:0032732
name: hearing loss, autosomal recessive 113
subset: gard_rare {source="GARD:18152", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 113" NARROW [OMIM:618410, OMIM:genemap2]
synonym: "DFNB113" NARROW ABBREVIATION [OMIM:618410]
xref: DOID:0111636 {source="MONDO:equivalentTo"}
xref: GARD:18152 {source="MONDO:GARD"}
xref: MEDGEN:1674289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618410 {source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="OMIM:618410"}
xref: Orphanet:90636 {source="OMIM:618410"}
xref: UMLS:C5193079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674289"}
is_a: MONDO:0003847 {source="OMIM:618410"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:618410"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032733
name: global developmental delay, progressive ataxia, and elevated glutamine
synonym: "GDPAG" RELATED ABBREVIATION [OMIM:618412]
synonym: "GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE" RELATED [OMIM:618412]
synonym: "Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia" RELATED [OMIM:618412]
xref: MEDGEN:1680160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618412 {source="MONDO:equivalentTo"}
xref: UMLS:C5193080 {source="MEDGEN:1680160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618412"} ! hereditary disease

[Term]
id: MONDO:0032735
name: cataract 48
subset: gard_rare {source="GARD:16350", source="MONDO:GARD"}
subset: rare
synonym: "CATARACT 48" RELATED [OMIM:618415]
synonym: "CTRCT48" RELATED ABBREVIATION [OMIM:618415]
xref: DOID:0070354 {source="MONDO:equivalentTo"}
xref: GARD:16350 {source="MONDO:GARD"}
xref: MEDGEN:1684457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618415 {source="MONDO:equivalentTo"}
xref: Orphanet:98994 {source="OMIM:618415"}
xref: UMLS:C5193082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684457"}
is_a: MONDO:0003847 {source="OMIM:618415"} ! hereditary disease
is_a: MONDO:0005129 {source="OMIM:618415"} ! cataract

[Term]
id: MONDO:0032736
name: metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
synonym: "MECREN" RELATED ABBREVIATION [OMIM:618416]
synonym: "METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION" RELATED [OMIM:618416]
xref: MEDGEN:1681269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618416 {source="MONDO:equivalentTo"}
xref: UMLS:C5193083 {source="MEDGEN:1681269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618416"} ! hereditary disease

[Term]
id: MONDO:0032737
name: spastic paraplegia 80, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631068"}
subset: orphanet_rare {source="Orphanet:631068"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant spastic paraplegia type 80" EXACT [MONDO:0858986]
synonym: "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT" EXACT [OMIM:618418]
synonym: "SPG80" EXACT ABBREVIATION [OMIM:618418]
xref: DOID:0112341 {source="MONDO:equivalentTo"}
xref: MEDGEN:1682111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618418 {source="MONDO:equivalentTo"}
xref: Orphanet:631068 {source="MONDO:equivalentTo"}
xref: UMLS:C5193084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682111"}
is_a: MONDO:0003847 {source="OMIM:618418"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:618418"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI

[Term]
id: MONDO:0032738
name: gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
synonym: "agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations" EXACT [OMIM:600908]
synonym: "agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations" EXACT DEPRECATED [OMIM:600908]
synonym: "GDRM" RELATED ABBREVIATION [OMIM:618419]
synonym: "GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY" EXACT [OMIM:618419]
synonym: "KENNERKNECHT syndrome" EXACT [OMIM:600908]
synonym: "Kennerknecht syndrome" EXACT [OMIM:600908]
xref: MEDGEN:1679397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600908 {source="MONDO:equivalentObsolete"}
xref: OMIM:618419 {source="MONDO:equivalentTo"}
xref: UMLS:C5193085 {source="MEDGEN:1679397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618419"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5902" xsd:anyURI

[Term]
id: MONDO:0032739
name: spermatogenic failure 36
synonym: "SPERMATOGENIC FAILURE 36" RELATED [OMIM:618420]
synonym: "SPGF36" RELATED ABBREVIATION [OMIM:618420]
xref: DOID:0111921 {source="MONDO:equivalentTo"}
xref: MEDGEN:1678385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618420 {source="MONDO:equivalentTo"}
xref: UMLS:C5193086 {source="MEDGEN:1678385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618420"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618420"} ! spermatogenic failure

[Term]
id: MONDO:0032740
name: hearing loss, autosomal recessive 100
subset: gard_rare {source="GARD:22660", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 100" NARROW [OMIM:618422, OMIM:genemap2]
synonym: "DFNB100" NARROW ABBREVIATION [OMIM:618422]
xref: DOID:0111638 {source="MONDO:equivalentTo"}
xref: GARD:22660 {source="MONDO:GARD"}
xref: MEDGEN:1682525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618422 {source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:618422"}
xref: UMLS:C5193087 {source="MEDGEN:1682525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618422"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:618422"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032741
name: neurodevelopmental disorder with impaired speech and hyperkinetic movements
synonym: "NEDISHM" RELATED ABBREVIATION [OMIM:618425]
synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS" RELATED [OMIM:618425]
xref: MEDGEN:1681181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618425 {source="MONDO:equivalentTo"}
xref: UMLS:C5193088 {source="MEDGEN:1681181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618425"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032742
name: encephalopathy, acute, infection-induced, susceptibility to, 9
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9" RELATED [OMIM:618426]
synonym: "IIAE9" RELATED ABBREVIATION [OMIM:618426]
xref: MEDGEN:1673394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618426 {source="MONDO:equivalentTo"}
xref: UMLS:C5193089 {source="MONDO:equivalentTo", source="MEDGEN:1673394", source="MONDO:MEDGEN"}
is_a: MONDO:0800174 {source="OMIM:618426"} ! encephalitis, acute, infection-induced, susceptibility to
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618426", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic PATO:0000389 ! acute
relationship: predisposes_towards MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0032744
name: spermatogenic failure 37
subset: gard_rare {source="GARD:18408", source="MONDO:GARD"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 37" RELATED [OMIM:618429]
synonym: "SPGF37" RELATED ABBREVIATION [OMIM:618429]
xref: DOID:0111927 {source="MONDO:equivalentTo"}
xref: GARD:18408 {source="MONDO:GARD"}
xref: MEDGEN:1677534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618429 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:618429"}
xref: UMLS:C5193091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677534"}
is_a: MONDO:0003847 {source="OMIM:618429"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618429"} ! spermatogenic failure

[Term]
id: MONDO:0032745
name: developmental delay with variable intellectual impairment and behavioral abnormalities
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18517", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DDVIBA" RELATED ABBREVIATION [OMIM:618430]
synonym: "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618430]
synonym: "developmental delay with variable intellectual impairment and behavioral abnormalities" EXACT CLINGEN_LABEL []
xref: GARD:18517 {source="MONDO:GARD"}
xref: MEDGEN:1676192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618430 {source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="OMIM:618430"}
xref: UMLS:C5193092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676192"}
is_a: MONDO:0003847 {source="OMIM:618430"} ! hereditary disease

[Term]
id: MONDO:0032746
name: hydatidiform mole, recurrent, 3
subset: gard_rare {source="GARD:18367", source="MONDO:GARD"}
subset: rare
synonym: "HYDATIDIFORM MOLE, RECURRENT, 3" RELATED [OMIM:618431]
synonym: "HYDM3" RELATED ABBREVIATION [OMIM:618431]
xref: GARD:18367 {source="MONDO:GARD"}
xref: MEDGEN:1677775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618431 {source="MONDO:equivalentTo"}
xref: Orphanet:254688 {source="OMIM:618431"}
xref: UMLS:C5193093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677775"}
is_a: MONDO:0003847 {source="OMIM:618431"} ! hereditary disease
is_a: MONDO:0006248 {source="OMIM:618431"} ! hydatidiform mole

[Term]
id: MONDO:0032747
name: hydatidiform mole, recurrent, 4
subset: gard_rare {source="GARD:18368", source="MONDO:GARD"}
subset: rare
synonym: "HYDATIDIFORM MOLE, RECURRENT, 4" RELATED [OMIM:618432]
synonym: "HYDM4" RELATED ABBREVIATION [OMIM:618432]
xref: GARD:18368 {source="MONDO:GARD"}
xref: MEDGEN:1677210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618432 {source="MONDO:equivalentTo"}
xref: Orphanet:254688 {source="OMIM:618432"}
xref: UMLS:C5193094 {source="MEDGEN:1677210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618432"} ! hereditary disease
is_a: MONDO:0006248 {source="OMIM:618432"} ! hydatidiform mole

[Term]
id: MONDO:0032748
name: spermatogenic failure 38
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18409", source="MONDO:GARD"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 38" RELATED [OMIM:618433]
synonym: "SPGF38" RELATED ABBREVIATION [OMIM:618433]
xref: DOID:0111919 {source="MONDO:equivalentTo"}
xref: GARD:18409 {source="MONDO:GARD"}
xref: MEDGEN:1680356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618433 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:618433"}
xref: UMLS:C5193095 {source="MEDGEN:1680356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618433"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618433"} ! spermatogenic failure

[Term]
id: MONDO:0032749
name: hearing loss, autosomal recessive 94
subset: gard_rare {source="GARD:22661", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 94" NARROW [OMIM:618434, OMIM:genemap2]
synonym: "DFNB94" NARROW ABBREVIATION [OMIM:618434]
xref: DOID:0111641 {source="MONDO:equivalentTo"}
xref: GARD:22661 {source="MONDO:GARD"}
xref: MEDGEN:1679077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618434 {source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:618434"}
xref: UMLS:C5193096 {source="MEDGEN:1679077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618434"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:618434"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032750
name: arthrogryposis, distal, type 2B2
subset: gard_rare {source="GARD:16351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "arthrogryposis, distal, type 2B2" EXACT [OMIM:618435]
synonym: "DA2B2" EXACT ABBREVIATION [DOID:0111600, OMIM:618435]
xref: DOID:0111601 {source="MONDO:equivalentTo"}
xref: GARD:16351 {source="MONDO:GARD"}
xref: MEDGEN:1674500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618435 {source="DOID:0111601", source="MONDO:equivalentTo"}
xref: Orphanet:1146 {source="OMIM:618435"}
xref: UMLS:C5193097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674500"}
is_a: MONDO:0000426 {source="DOID:0111601"} ! autosomal dominant disease
is_a: MONDO:0003847 {source="OMIM:618435"} ! hereditary disease
is_a: MONDO:0011128 {source="DOID:0111601"} ! Sheldon-hall syndrome
is_a: MONDO:0019942 {source="OMIM:618435"} ! distal arthrogryposis
relationship: has_characteristic HP:0000006 {source="DOID:0111601"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0032751
name: arthrogryposis, distal, type 2B3
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arthrogryposis, distal, type 2B3" EXACT [OMIM:618436]
synonym: "arthrogryposis, distal, type 2B3 (Sheldon-Hall)" EXACT [OMIM:618436, OMIM:genemap2]
synonym: "DA2B3" EXACT ABBREVIATION [DOID:0111602, OMIM:618436]
synonym: "distal arthrogryposis type 2B3 (Sheldon-Hall)" EXACT [DOID:0111602]
xref: DOID:0111602 {source="MONDO:equivalentTo"}
xref: MEDGEN:1676839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618436 {source="DOID:0111602", source="MONDO:equivalentTo"}
xref: Orphanet:2053 {source="OMIM:618436"}
xref: UMLS:C5193098 {source="MEDGEN:1676839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0111602"} ! autosomal dominant disease
is_a: MONDO:0003847 {source="OMIM:618436"} ! hereditary disease
is_a: MONDO:0011128 {source="DOID:0111602"} ! Sheldon-hall syndrome
is_a: MONDO:0019942 {source="OMIM:618436"} ! distal arthrogryposis
relationship: has_characteristic HP:0000006 {source="DOID:0111602"} ! Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032752
name: developmental and epileptic encephalopathy, 75
subset: gard_rare {source="GARD:16352", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE75" EXACT ABBREVIATION [OMIM:618437]
synonym: "developmental and epileptic encephalopathy 75" EXACT [OMIM:618437, OMIM:genemap2]
synonym: "EIEE75" EXACT ABBREVIATION [OMIM:618437]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75" EXACT [OMIM:618437]
synonym: "epileptic encephalopathy, early infantile, 75" EXACT [OMIM:618437]
xref: DOID:0112211 {source="MONDO:equivalentTo"}
xref: GARD:16352 {source="MONDO:GARD"}
xref: MEDGEN:1684253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618437 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:618437"}
xref: UMLS:C5193099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684253"}
is_a: MONDO:0003847 {source="OMIM:618437"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618437"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032753
name: spastic ataxia 9, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE" RELATED [OMIM:618438]
synonym: "SPAX9" RELATED ABBREVIATION [OMIM:618438]
xref: MEDGEN:1680026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618438 {source="MONDO:equivalentTo"}
xref: UMLS:C5193100 {source="MEDGEN:1680026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618438"} ! hereditary disease
is_a: MONDO:0017845 {source="OMIM:618438"} ! spastic ataxia

[Term]
id: MONDO:0032755
name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "NEDBA" RELATED ABBREVIATION [OMIM:618443]
synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES" RELATED [OMIM:618443]
xref: MEDGEN:1675664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618443 {source="MONDO:equivalentTo"}
xref: UMLS:C5193102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675664"}
is_a: MONDO:0003847 {source="OMIM:618443"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032756
name: long qt syndrome 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LONG QT SYNDROME 8" RELATED [OMIM:618447]
synonym: "LQT8" RELATED ABBREVIATION [OMIM:618447]
xref: DOID:0110649 {source="MONDO:equivalentTo"}
xref: OMIM:618447 {source="MONDO:equivalentTo"}
xref: Orphanet:65283 {source="OMIM:618447"}
xref: Orphanet:768 {source="OMIM:618447"}
is_a: MONDO:0003847 {source="OMIM:618447"} ! hereditary disease
is_a: MONDO:0019171 {source="OMIM:618447"} ! familial long QT syndrome

[Term]
id: MONDO:0032757
name: ciliary dyskinesia, primary, 41
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD41" RELATED ABBREVIATION [OMIM:618449]
synonym: "CILIARY DYSKINESIA, PRIMARY, 41" RELATED [OMIM:618449]
xref: DOID:0111858 {source="MONDO:equivalentTo"}
xref: GARD:16353 {source="MONDO:GARD"}
xref: MEDGEN:1680404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618449 {source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:618449"}
xref: UMLS:C5193103 {source="MEDGEN:1680404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618449"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:618449"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0032758
name: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
synonym: "NDCAMA" RELATED ABBREVIATION [OMIM:618451]
synonym: "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA" RELATED [OMIM:618451]
xref: MEDGEN:1676579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618451 {source="MONDO:equivalentTo"}
xref: UMLS:C5193104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676579"}
is_a: MONDO:0003847 {source="OMIM:618451"} ! hereditary disease

[Term]
id: MONDO:0032759
name: intellectual developmental disorder with short stature and variable skeletal anomalies
synonym: "IDDSSA" RELATED ABBREVIATION [OMIM:618453]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES" RELATED [OMIM:618453]
xref: MEDGEN:1680968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618453 {source="MONDO:equivalentTo"}
xref: UMLS:C5193105 {source="MEDGEN:1680968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618453"} ! hereditary disease

[Term]
id: MONDO:0032760
name: developmental delay with or without dysmorphic facies and autism
subset: otar {source="MONDO:OTAR"}
synonym: "DEDDFA" RELATED ABBREVIATION [OMIM:618454]
synonym: "DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM" RELATED [OMIM:618454]
xref: MEDGEN:1679263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618454 {source="MONDO:equivalentTo"}
xref: UMLS:C5193106 {source="MEDGEN:1679263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618454"} ! hereditary disease

[Term]
id: MONDO:0032761
name: hearing loss, autosomal recessive 114
subset: gard_rare {source="GARD:22662", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 114" NARROW [OMIM:618456, OMIM:genemap2]
synonym: "DFNB114" NARROW ABBREVIATION [OMIM:618456]
xref: DOID:0111642 {source="MONDO:equivalentTo"}
xref: GARD:22662 {source="MONDO:GARD"}
xref: MEDGEN:1684024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618456 {source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:618456"}
xref: UMLS:C5193107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684024"}
is_a: MONDO:0003847 {source="OMIM:618456"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:618456"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032762
name: hearing loss, autosomal recessive 115
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 115" NARROW [OMIM:618457, OMIM:genemap2]
synonym: "DFNB115" NARROW ABBREVIATION [OMIM:618457]
xref: DOID:0111643 {source="MONDO:equivalentTo"}
xref: MEDGEN:1681630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618457 {source="MONDO:equivalentTo"}
xref: UMLS:C5193108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681630"}
is_a: MONDO:0003847 {source="OMIM:618457"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:618457"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032763
name: immunodeficiency 62
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "IMD62" RELATED ABBREVIATION [OMIM:618459]
synonym: "IMMUNODEFICIENCY 62" RELATED [OMIM:618459]
synonym: "immunodeficiency 62" EXACT CLINGEN_LABEL []
xref: DOID:0111991 {source="MONDO:equivalentTo"}
xref: MEDGEN:1673905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618459 {source="MONDO:equivalentTo"}
xref: UMLS:C5193109 {source="MONDO:equivalentTo", source="MEDGEN:1673905", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618459"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618459"} ! immunodeficiency disease

[Term]
id: MONDO:0032764
name: Khan-Khan-Katsanis syndrome
subset: clingen {source="MONDO:CLINGEN"}
synonym: "3K Syndrome" RELATED [OMIM:618460]
synonym: "3KS" RELATED ABBREVIATION [OMIM:618460]
synonym: "KHAN-KHAN-KATSANIS SYNDROME" RELATED [OMIM:618460]
xref: MEDGEN:1682553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618460 {source="MONDO:equivalentTo"}
xref: UMLS:C5193110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682553"}
is_a: MONDO:0003847 {source="OMIM:618460"} ! hereditary disease

[Term]
id: MONDO:0032765
name: bleeding disorder, platelet-type, 22
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDPLT22" RELATED ABBREVIATION [OMIM:618462]
synonym: "BLEEDING DISORDER, PLATELET-TYPE, 22" RELATED [OMIM:618462]
xref: MEDGEN:1673822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618462 {source="MONDO:equivalentTo"}
xref: UMLS:C5193111 {source="MEDGEN:1673822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="OMIM:618462"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0003847 {source="OMIM:618462"} ! hereditary disease

[Term]
id: MONDO:0032766
name: hypoalphalipoproteinemia, primary, 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ApoA-I and apoC-III deficiency, combined" BROAD [OMIM:618463, OMIM:genemap2]
synonym: "Apolipoprotein A-I Deficiency" RELATED [OMIM:618463]
synonym: "High Density Lipoprotein Deficiency" RELATED [OMIM:618463]
synonym: "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2" EXACT [OMIM:618463]
synonym: "hypoalphalipoproteinemia, primary, 2, with or without corneal clouding" EXACT [OMIM:618463, OMIM:genemap2]
xref: DOID:0080958 {source="MONDO:equivalentTo"}
xref: MEDGEN:1789263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618463 {source="MONDO:equivalentTo"}
xref: Orphanet:425 {source="OMIM:618463"}
xref: UMLS:C5551172 {source="MEDGEN:1789263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618463"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/600 {source="OMIM:618463"} ! APOA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032767
name: paragangliomas 6
subset: gard_rare {source="GARD:16354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PARAGANGLIOMAS 6" RELATED [OMIM:618464]
synonym: "PGL6" RELATED ABBREVIATION [OMIM:618464]
xref: GARD:16354 {source="MONDO:GARD"}
xref: MEDGEN:1681559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618464 {source="MONDO:equivalentTo"}
xref: Orphanet:29072 {source="OMIM:618464"}
xref: UMLS:C5193112 {source="MEDGEN:1681559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000448 {source="OMIM:618464"} ! paraganglioma
is_a: MONDO:0003847 {source="OMIM:618464"} ! hereditary disease

[Term]
id: MONDO:0032768
name: developmental and epileptic encephalopathy, 76
subset: gard_rare {source="GARD:16355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE76" EXACT ABBREVIATION [OMIM:618468]
synonym: "developmental and epileptic encephalopathy 76" EXACT [OMIM:618468, OMIM:genemap2]
synonym: "Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination" RELATED [OMIM:618468]
synonym: "EIEE76" EXACT ABBREVIATION [OMIM:618468]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76" EXACT [OMIM:618468]
synonym: "epileptic encephalopathy, early infantile, 76" EXACT [OMIM:618468]
xref: DOID:0112212 {source="MONDO:equivalentTo"}
xref: GARD:16355 {source="MONDO:GARD"}
xref: MEDGEN:1673011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618468 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:618468"}
xref: UMLS:C5193113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673011"}
is_a: MONDO:0003847 {source="OMIM:618468"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618468"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032770
name: intellectual developmental disorder with severe speech and ambulation defects
def: "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808]
subset: gard_rare {source="GARD:18518", source="MONDO:GARD"}
subset: rare
synonym: "ACTL6B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
synonym: "IDDSSAD" RELATED ABBREVIATION [OMIM:618470]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS" RELATED [OMIM:618470]
xref: GARD:18518 {source="MONDO:GARD"}
xref: MEDGEN:1682234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618470 {source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="OMIM:618470"}
xref: UMLS:C5193115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682234"}
is_a: MONDO:0003847 {source="OMIM:618470"} ! hereditary disease
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/160 {source="OMIM:618470", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ACTL6B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0032771
name: paragangliomas 7
subset: gard_rare {source="GARD:16356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PARAGANGLIOMAS 7" RELATED [OMIM:618475]
synonym: "PGL7" RELATED ABBREVIATION [OMIM:618475]
xref: GARD:16356 {source="MONDO:GARD"}
xref: MEDGEN:1673088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618475 {source="MONDO:equivalentTo"}
xref: Orphanet:29072 {source="OMIM:618475"}
xref: UMLS:C5193116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673088"}
is_a: MONDO:0000448 {source="OMIM:618475"} ! paraganglioma
is_a: MONDO:0003847 {source="OMIM:618475"} ! hereditary disease

[Term]
id: MONDO:0032772
name: brain abnormalities, neurodegeneration, and dysosteosclerosis
synonym: "BANDDOS" RELATED ABBREVIATION [OMIM:618476]
synonym: "BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS" RELATED [OMIM:618476]
xref: MEDGEN:1678789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618476 {source="MONDO:equivalentTo"}
xref: UMLS:C5193117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678789"}
is_a: MONDO:0003847 {source="OMIM:618476"} ! hereditary disease

[Term]
id: MONDO:0032773
name: uridine-cytidineuria
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "URCTU" RELATED ABBREVIATION [OMIM:618477]
synonym: "URIDINE-CYTIDINEURIA" RELATED [OMIM:618477]
synonym: "uridine-cytidineuria" EXACT [OMIM:618477, OMIM:genemap2]
xref: MEDGEN:1681582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618477 {source="MONDO:equivalentTo"}
xref: UMLS:C4760647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681582"}
is_a: MONDO:0003847 {source="OMIM:618477"} ! hereditary disease
is_a: MONDO:0019052 ! inborn errors of metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032774
name: cerebellar, ocular, craniofacial, and genital syndrome
synonym: "CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME" RELATED [OMIM:618479]
synonym: "COFG" RELATED ABBREVIATION [OMIM:618479]
xref: MEDGEN:1680057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618479 {source="MONDO:equivalentTo"}
xref: UMLS:C5193118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680057"}
is_a: MONDO:0003847 {source="OMIM:618479"} ! hereditary disease

[Term]
id: MONDO:0032775
name: neurodevelopmental disorder with seizures and speech and walking impairment
synonym: "deoxyhypusine synthase disorder" EXACT [https://rarediseases.org/rare-diseases/deoxyhypusine-synthase-disorder/]
synonym: "NEDSSWI" RELATED ABBREVIATION [OMIM:618480]
synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT" RELATED [OMIM:618480]
xref: MEDGEN:1672912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618480 {source="MONDO:equivalentTo"}
xref: UMLS:C5193119 {source="MEDGEN:1672912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618480"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6565" xsd:anyURI

[Term]
id: MONDO:0032776
name: hearing loss, autosomal recessive 99
subset: gard_rare {source="GARD:22663", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 99" NARROW [OMIM:618481, OMIM:genemap2]
synonym: "DFNB99" NARROW ABBREVIATION [OMIM:618481]
xref: DOID:0111634 {source="MONDO:equivalentTo"}
xref: GARD:22663 {source="MONDO:GARD"}
xref: MEDGEN:1678930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618481 {source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:618481"}
xref: UMLS:C4760579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678930"}
is_a: MONDO:0003847 {source="OMIM:618481"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:618481"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032777
name: generalized epilepsy with febrile seizures plus, type 10
subset: gard_rare {source="GARD:18671", source="MONDO:GARD"}
subset: rare
synonym: "Gefs+, Type 10" RELATED [OMIM:618482]
synonym: "GEFSP10" RELATED ABBREVIATION [OMIM:618482]
synonym: "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10" RELATED [OMIM:618482]
xref: DOID:0111296 {source="MONDO:equivalentTo"}
xref: GARD:18671 {source="MONDO:GARD"}
xref: MEDGEN:1676426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618482 {source="MONDO:equivalentTo"}
xref: Orphanet:36387 {source="OMIM:618482"}
xref: UMLS:C5193120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676426"}
is_a: MONDO:0003847 {source="OMIM:618482"} ! hereditary disease
is_a: MONDO:0018214 {source="OMIM:618482"} ! generalized epilepsy with febrile seizures plus

[Term]
id: MONDO:0032778
name: arthrogryposis multiplex congenita 3, myogenic type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AMCM" EXACT ABBREVIATION [OMIM:618484]
synonym: "arthrogryposis multiplex congenita, myogenic type" EXACT [OMIM:618484]
xref: DOID:0080979 {source="MONDO:equivalentTo"}
xref: MEDGEN:1680655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618484 {source="MONDO:equivalentTo"}
xref: Orphanet:319332 {source="OMIM:618484"}
xref: UMLS:C5193121 {source="MEDGEN:1680655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618484"} ! hereditary disease
is_a: MONDO:0015168 {source="OMIM:618484"} ! arthrogryposis multiplex congenita
intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 ! SYNE1

[Term]
id: MONDO:0032779
name: neurodevelopmental disorder with microcephaly and structural brain anomalies
synonym: "NEDMIBA" RELATED ABBREVIATION [OMIM:618492]
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES" RELATED [OMIM:618492]
xref: MEDGEN:1677276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618492 {source="MONDO:equivalentTo"}
xref: UMLS:C5193123 {source="MEDGEN:1677276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618492"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032780
name: hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HIDEA" RELATED ABBREVIATION [OMIM:618493]
synonym: "HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES" RELATED [OMIM:618493]
xref: MEDGEN:1672905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618493 {source="MONDO:equivalentTo"}
xref: Orphanet:656273 {source="MONDO:equivalentTo"}
xref: UMLS:C5193124 {source="MEDGEN:1672905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618493"} ! hereditary disease

[Term]
id: MONDO:0032781
name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies
subset: otar {source="MONDO:OTAR"}
synonym: "CHEDDA" RELATED ABBREVIATION [OMIM:618494]
synonym: "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES" RELATED [OMIM:618494]
xref: MEDGEN:1674629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618494 {source="MONDO:equivalentTo"}
xref: UMLS:C5193125 {source="MEDGEN:1674629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618494"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0032782
name: immunodeficiency 63 with lymphoproliferation and autoimmunity
synonym: "Cd122 Deficiency" RELATED [OMIM:618495]
synonym: "Il2Rb Deficiency" RELATED [OMIM:618495]
synonym: "IMD63" RELATED ABBREVIATION [OMIM:618495]
synonym: "IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY" RELATED [OMIM:618495]
synonym: "Interleukin 2 Receptor, Beta, Deficiency of" RELATED [OMIM:618495]
xref: DOID:0111997 {source="MONDO:equivalentTo"}
xref: MEDGEN:1682943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618495 {source="MONDO:equivalentTo"}
xref: UMLS:C5193126 {source="MEDGEN:1682943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618495"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618495"} ! immunodeficiency disease

[Term]
id: MONDO:0032783
name: aortic valve disease 3
def: "Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene." [OMIM:618496]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AORTIC VALVE DISEASE 3" RELATED [OMIM:618496]
synonym: "AOVD3" RELATED ABBREVIATION [OMIM:618496]
xref: DOID:0080977 {source="MONDO:equivalentTo"}
xref: MEDGEN:1681142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618496 {source="MONDO:equivalentTo"}
xref: UMLS:C5193127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681142"}
is_a: MONDO:0003847 {source="OMIM:618496"} ! hereditary disease
is_a: MONDO:0007194 {source="OMIM:618496"} ! familial bicuspid aortic valve
intersection_of: MONDO:0003803 ! aortic valve disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17985 ! ROBO4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7412" xsd:anyURI

[Term]
id: MONDO:0032784
name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
synonym: "NEDNEH" RELATED ABBREVIATION [OMIM:618497]
synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS" RELATED [OMIM:618497]
xref: MEDGEN:1678038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618497 {source="MONDO:equivalentTo"}
xref: UMLS:C5193128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678038"}
is_a: MONDO:0003847 {source="OMIM:618497"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032785
name: polydactyly, postaxial, type a10
subset: gard_rare {source="GARD:18178", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PAPA10" RELATED ABBREVIATION [OMIM:618498]
synonym: "POLYDACTYLY, POSTAXIAL, TYPE A10" RELATED [OMIM:618498]
xref: GARD:18178 {source="MONDO:GARD"}
xref: MEDGEN:1676955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618498 {source="MONDO:equivalentTo"}
xref: Orphanet:93334 {source="OMIM:618498"}
xref: UMLS:C5193129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676955"}
is_a: MONDO:0003847 {source="OMIM:618498"} ! hereditary disease
is_a: MONDO:0020927 {source="OMIM:618498"} ! postaxial polydactyly

[Term]
id: MONDO:0032786
name: Noonan syndrome 11
subset: gard_rare {source="GARD:16357", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NOONAN SYNDROME 11" RELATED [OMIM:618499]
synonym: "NS11" RELATED ABBREVIATION [OMIM:618499]
xref: DOID:0112169 {source="MONDO:equivalentTo"}
xref: GARD:16357 {source="MONDO:GARD"}
xref: MEDGEN:1681177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C177119 {source="MONDO:equivalentTo"}
xref: OMIM:618499 {source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:618499"}
xref: UMLS:C5193130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681177"}
is_a: MONDO:0003847 {source="OMIM:618499"} ! hereditary disease
is_a: MONDO:0018997 {source="OMIM:618499"} ! Noonan syndrome

[Term]
id: MONDO:0032787
name: holoprosencephaly 12 with or without pancreatic agenesis
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" RELATED [OMIM:618500]
synonym: "holoprosencephaly 12, with or without pancreatic agenesis" EXACT [OMIM:618500, OMIM:genemap2]
synonym: "HPE12" RELATED ABBREVIATION [OMIM:618500]
xref: DOID:0081398 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618500 {source="MONDO:equivalentTo"}
xref: UMLS:C5193131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684550"}
is_a: MONDO:0003847 {source="OMIM:618500"} ! hereditary disease
is_a: MONDO:0016296 {source="OMIM:618500"} ! holoprosencephaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032788
name: cerebellar atrophy with seizures and variable developmental delay
synonym: "CASVDD" RELATED ABBREVIATION [OMIM:618501]
synonym: "CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY" RELATED [OMIM:618501]
xref: MEDGEN:1683734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618501 {source="MONDO:equivalentTo"}
xref: UMLS:C5193132 {source="MEDGEN:1683734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618501"} ! hereditary disease

[Term]
id: MONDO:0032789
name: intellectual developmental disorder, autosomal recessive 71
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71" RELATED [OMIM:618504]
synonym: "Mental Retardation, Autosomal Recessive 71" RELATED [OMIM:618504]
synonym: "MRT71" RELATED ABBREVIATION [OMIM:618504]
xref: DOID:0081232 {source="MONDO:equivalentTo"}
xref: MEDGEN:1673448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618504 {source="MONDO:equivalentTo"}
xref: UMLS:C5193133 {source="MEDGEN:1673448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618504"} ! hereditary disease
is_a: MONDO:0019502 {source="OMIM:618504"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0032790
name: neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
subset: otar {source="MONDO:OTAR"}
synonym: "NEDCFSA" RELATED ABBREVIATION [OMIM:618505]
synonym: "NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES" RELATED [OMIM:618505]
xref: DOID:0081443 {source="MONDO:equivalentTo"}
xref: MEDGEN:1682403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618505 {source="MONDO:equivalentTo"}
xref: UMLS:C5193134 {source="MEDGEN:1682403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618505"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032791
name: Coffin-Siris syndrome 10
subset: gard_rare {source="GARD:16358", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COFFIN-SIRIS SYNDROME 10" RELATED [OMIM:618506]
synonym: "CSS10" RELATED ABBREVIATION [OMIM:618506]
xref: DOID:0112371 {source="MONDO:equivalentTo"}
xref: GARD:16358 {source="MONDO:GARD"}
xref: MEDGEN:1683634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618506 {source="MONDO:equivalentTo"}
xref: UMLS:C4760583 {source="MEDGEN:1683634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618506"} ! hereditary disease
is_a: MONDO:0015452 {source="OMIM:618506"} ! Coffin-Siris syndrome

[Term]
id: MONDO:0032792
name: neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Charcot-Marie-Tooth Disease, Type 6C" EXACT [OMIM:618511]
synonym: "CMT 6C" EXACT [OMIM:618511]
synonym: "CMT6C" EXACT ABBREVIATION [OMIM:618511]
synonym: "HMSN 6C" EXACT [OMIM:618511]
synonym: "HMSN6C" EXACT ABBREVIATION [OMIM:618511]
synonym: "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy" EXACT [OMIM:618511]
xref: MEDGEN:1680245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618511 {source="MONDO:equivalentTo"}
xref: UMLS:C5193137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680245"}
is_a: MONDO:0003847 {source="OMIM:618511"} ! hereditary disease
is_a: MONDO:0015358 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary motor and sensory neuropathy
intersection_of: MONDO:0019551 ! hereditary motor and sensory neuropathy type 6
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8819 ! PDXK

[Term]
id: MONDO:0032793
name: O'Donnell-Luria-Rodan syndrome
synonym: "O'Donnell-Luria-Rodan syndrome" EXACT [OMIM:618512]
synonym: "ODLURO" RELATED ABBREVIATION [OMIM:618512]
xref: MEDGEN:1677602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618512 {source="MONDO:equivalentTo"}
xref: UMLS:C5193138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677602"}
is_a: MONDO:0003847 {source="OMIM:618512"} ! hereditary disease

[Term]
id: MONDO:0032794
name: leber congenital amaurosis 19
subset: gard_rare {source="GARD:16359", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "LCA19" RELATED ABBREVIATION [OMIM:618513]
synonym: "LEBER CONGENITAL AMAUROSIS 19" RELATED [OMIM:618513]
xref: DOID:0081169 {source="MONDO:equivalentTo"}
xref: GARD:16359 {source="MONDO:GARD"}
xref: MEDGEN:1679297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618513 {source="MONDO:equivalentTo"}
xref: Orphanet:65 {source="OMIM:618513"}
xref: UMLS:C5193139 {source="MEDGEN:1679297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618513"} ! hereditary disease
is_a: MONDO:0018998 {source="OMIM:618513"} ! Leber congenital amaurosis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0032795
name: intellectual developmental disorder 59
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 59" RELATED [OMIM:618522]
synonym: "intellectual developmental disorder 59" EXACT CLINGEN_LABEL []
synonym: "Mental Retardation, Autosomal Dominant 59" RELATED [OMIM:618522]
synonym: "MRD59" RELATED ABBREVIATION [OMIM:618522]
xref: MEDGEN:1678593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618522 {source="MONDO:equivalentTo"}
xref: UMLS:C5193190 {source="MEDGEN:1678593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618522"} ! hereditary disease
is_a: MONDO:0015802 {source="OMIM:618522"} ! autosomal dominant non-syndromic intellectual disability

[Term]
id: MONDO:0032796
name: hyper-IgE recurrent infection syndrome 4, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HIES4" RELATED ABBREVIATION [OMIM:618523]
synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE" RELATED [OMIM:618523]
synonym: "hyper-IgE recurrent infection syndrome 4B, autosomal recessive" EXACT [OMIM:618523, OMIM:genemap2]
xref: DOID:0080596 {source="MONDO:equivalentTo"}
xref: MEDGEN:1673363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618523 {source="MONDO:equivalentTo"}
xref: UMLS:C5193141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673363"}
is_a: MONDO:0003847 {source="OMIM:618523"} ! hereditary disease
is_a: MONDO:0018037 {source="OMIM:618523"} ! hyper-IgE syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032797
name: myopathy, congenital, with tremor
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Myogenic Tremor" RELATED [OMIM:618524]
synonym: "MYOPATHY, CONGENITAL, WITH TREMOR" RELATED [OMIM:618524]
synonym: "MYOTREM" RELATED ABBREVIATION [OMIM:618524]
xref: DOID:0081348 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618524 {source="MONDO:equivalentTo"}
xref: UMLS:C5231401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684886"}
is_a: MONDO:0003847 {source="OMIM:618524"} ! hereditary disease
is_a: MONDO:0019952 {source="OMIM:618524"} ! congenital myopathy

[Term]
id: MONDO:0032798
name: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
synonym: "ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES" RELATED [OMIM:618527]
synonym: "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies" EXACT [OMIM:618527, OMIM:genemap2]
synonym: "IKSHD" RELATED ABBREVIATION [OMIM:618527]
xref: MEDGEN:1682428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618527 {source="MONDO:equivalentTo"}
xref: UMLS:C5193147 {source="MEDGEN:1682428", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618527"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032799
name: mitochondrial DNA depletion syndrome 16 (hepatic type)
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)" RELATED [OMIM:618528]
synonym: "MTDPS16" RELATED ABBREVIATION [OMIM:618528]
xref: DOID:0070446 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618528 {source="MONDO:equivalentTo"}
xref: UMLS:C5193142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684495"}
is_a: MONDO:0003847 {source="OMIM:618528"} ! hereditary disease
is_a: MONDO:0018158 {source="OMIM:618528"} ! mitochondrial DNA depletion syndrome

[Term]
id: MONDO:0032800
name: robinow syndrome, autosomal recessive 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2" RELATED [OMIM:618529]
synonym: "RRS2" RELATED ABBREVIATION [OMIM:618529]
xref: MEDGEN:1676687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618529 {source="MONDO:equivalentTo"}
xref: Orphanet:1507 {source="OMIM:618529"}
xref: UMLS:C5193143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676687"}
is_a: MONDO:0003847 {source="OMIM:618529"} ! hereditary disease
is_a: MONDO:0019978 {source="OMIM:618529"} ! Robinow syndrome

[Term]
id: MONDO:0032801
name: erythrokeratodermia variabilis et progressiva 6
subset: gard_rare {source="GARD:18672", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EKVP6" RELATED ABBREVIATION [OMIM:618531]
synonym: "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6" RELATED [OMIM:618531]
xref: DOID:0080766 {source="MONDO:equivalentTo"}
xref: GARD:18672 {source="MONDO:GARD"}
xref: MEDGEN:1681026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618531 {source="MONDO:equivalentTo"}
xref: Orphanet:316 {source="OMIM:618531"}
xref: UMLS:C5193144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681026"}
is_a: MONDO:0003847 {source="OMIM:618531"} ! hereditary disease
is_a: MONDO:0017851 {source="OMIM:618531"} ! erythrokeratodermia variabilis

[Term]
id: MONDO:0032802
name: hearing loss, autosomal dominant 37
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 37" NARROW [OMIM:618533]
synonym: "deafness, autosomal dominant 37" NARROW [OMIM:618533, OMIM:genemap2]
synonym: "DFNA37" NARROW ABBREVIATION [OMIM:618533]
xref: MEDGEN:1676950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618533 {source="MONDO:equivalentTo"}
xref: UMLS:C4760307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676950"}
is_a: MONDO:0003847 {source="OMIM:618533"} ! hereditary disease
is_a: MONDO:0019587 {source="OMIM:618533"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032803
name: immunodeficiency 64
subset: gard_rare {source="GARD:16360", source="MONDO:GARD"}
subset: rare
synonym: "IMD64" RELATED ABBREVIATION [OMIM:618534]
synonym: "IMMUNODEFICIENCY 64" RELATED [OMIM:618534]
xref: DOID:0111980 {source="MONDO:equivalentTo"}
xref: GARD:16360 {source="MONDO:GARD"}
xref: MEDGEN:1684716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618534 {source="MONDO:equivalentTo"}
xref: Orphanet:3261 {source="OMIM:618534"}
xref: UMLS:C5231402 {source="MEDGEN:1684716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618534"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618534"} ! immunodeficiency disease

[Term]
id: MONDO:0032804
name: ectodermal dysplasia 15, hypohidrotic/hair type
subset: gard_rare {source="GARD:16361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD15" RELATED ABBREVIATION [OMIM:618535]
synonym: "ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE" RELATED [OMIM:618535]
xref: DOID:0111651 {source="MONDO:equivalentTo"}
xref: GARD:16361 {source="MONDO:GARD"}
xref: MEDGEN:1680605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618535 {source="MONDO:equivalentTo"}
xref: Orphanet:248 {source="OMIM:618535"}
xref: UMLS:C5193145 {source="MEDGEN:1680605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618535"} ! hereditary disease
is_a: MONDO:0019287 {source="OMIM:618535"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0032805
name: hypopigmentation, organomegaly, and delayed myelination and development
subset: otar {source="MONDO:OTAR"}
synonym: "HOD" RELATED ABBREVIATION [OMIM:618541]
synonym: "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT" RELATED [OMIM:618541]
xref: MEDGEN:1684826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618541 {source="MONDO:equivalentTo"}
xref: UMLS:C5203300 {source="MEDGEN:1684826", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618541"} ! hereditary disease

[Term]
id: MONDO:0032806
name: trichothiodystrophy 7, nonphotosensitive
subset: gard_rare {source="GARD:16362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE" RELATED [OMIM:618546]
synonym: "TTD7" RELATED ABBREVIATION [OMIM:618546]
xref: DOID:0111870 {source="MONDO:equivalentTo"}
xref: GARD:16362 {source="MONDO:GARD"}
xref: MEDGEN:1684762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C173102 {source="MONDO:equivalentTo"}
xref: OMIM:618546 {source="MONDO:equivalentTo"}
xref: Orphanet:33364 {source="OMIM:618546"}
xref: UMLS:C5231403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684762"}
is_a: MONDO:0003847 {source="OMIM:618546"} ! hereditary disease
is_a: MONDO:0018053 {source="OMIM:618546"} ! trichothiodystrophy

[Term]
id: MONDO:0032807
name: neurodevelopmental disorder with visual defects and brain anomalies
synonym: "NEDVIBA" RELATED ABBREVIATION [OMIM:618547]
synonym: "NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES" RELATED [OMIM:618547]
xref: MEDGEN:1684774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618547 {source="MONDO:equivalentTo"}
xref: UMLS:C5231404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684774"}
is_a: MONDO:0003847 {source="OMIM:618547"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032808
name: developmental and epileptic encephalopathy, 77
subset: gard_rare {source="GARD:16363", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE77" EXACT ABBREVIATION [OMIM:618548]
synonym: "EIEE77" EXACT ABBREVIATION [OMIM:618548]
synonym: "epileptic encephalopathy, early infantile, 77" EXACT [OMIM:618548]
synonym: "glycosylphosphatidylinositol biosynthesis defect 19" RELATED [OMIM:618548]
synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 4" EXACT [OMIM:618548]
xref: DOID:0112213 {source="MONDO:equivalentTo"}
xref: GARD:16363 {source="MONDO:GARD"}
xref: MEDGEN:1684735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618548 {source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="OMIM:618548"}
xref: UMLS:C5231405 {source="MEDGEN:1684735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618548"} ! hereditary disease
is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis
is_a: MONDO:0100062 {source="OMIM:618548"} ! developmental and epileptic encephalopathy
is_a: MONDO:0100247 {source="OMIM:618548"} ! multiple congenital anomalies-hypotonia-seizures syndrome
intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14135 ! PIGQ
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14135 {source="OMIM:618548"} ! PIGQ

[Term]
id: MONDO:0032809
name: hepatitis, fulminant viral, susceptibility to
synonym: "FVH" RELATED ABBREVIATION [OMIM:618549]
synonym: "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO" RELATED [OMIM:618549]
xref: MEDGEN:1684882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618549 {source="MONDO:equivalentTo"}
xref: UMLS:C5231406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684882"}
is_a: MONDO:0020573 {source="OMIM:618549"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618549", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0032810
name: oocyte maturation defect 7
synonym: "OOCYTE MATURATION DEFECT 7" RELATED [OMIM:618550]
synonym: "OOMD7" RELATED ABBREVIATION [OMIM:618550]
xref: MEDGEN:1684736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618550 {source="MONDO:equivalentTo"}
xref: UMLS:C5231407 {source="MEDGEN:1684736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618550"} ! hereditary disease
is_a: MONDO:0014769 {source="OMIM:618550"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0032811
name: night blindness, congenital stationary, type1i
subset: gard_rare {source="GARD:16364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CSNB1I" EXACT ABBREVIATION [OMIM:618555]
synonym: "night blindness, congenital stationary, type 1I" EXACT [OMIM:618555, OMIM:genemap2]
synonym: "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I" EXACT [OMIM:618555]
xref: GARD:16364 {source="MONDO:GARD"}
xref: MEDGEN:1684817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618555 {source="MONDO:equivalentTo"}
xref: Orphanet:1872 {source="OMIM:618555"}
xref: UMLS:C5231408 {source="MONDO:equivalentTo", source="MEDGEN:1684817", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618555"} ! hereditary disease
is_a: MONDO:0016293 {source="OMIM:618555"} ! congenital stationary night blindness
is_a: MONDO:0100453 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D-related recessive retinopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032812
name: developmental and epileptic encephalopathy, 78
subset: gard_rare {source="GARD:16365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE78" EXACT ABBREVIATION [OMIM:618557]
synonym: "developmental and epileptic encephalopathy 78" EXACT [OMIM:618557, OMIM:genemap2]
synonym: "EIEE78" EXACT ABBREVIATION [OMIM:618557]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78" EXACT [OMIM:618557]
synonym: "epileptic encephalopathy, early infantile, 78" EXACT [OMIM:618557]
xref: DOID:0112214 {source="MONDO:equivalentTo"}
xref: GARD:16365 {source="MONDO:GARD"}
xref: MEDGEN:1684724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618557 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:618557"}
xref: UMLS:C5231409 {source="MEDGEN:1684724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618557"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618557"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032813
name: developmental and epileptic encephalopathy, 79
subset: gard_rare {source="GARD:16366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE79" EXACT ABBREVIATION [OMIM:618559]
synonym: "developmental and epileptic encephalopathy 79" EXACT [OMIM:618559, OMIM:genemap2]
synonym: "EIEE79" EXACT ABBREVIATION [OMIM:618559]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79" EXACT [OMIM:618559]
synonym: "epileptic encephalopathy, early infantile, 79" EXACT [OMIM:618559]
xref: DOID:0112215 {source="MONDO:equivalentTo"}
xref: GARD:16366 {source="MONDO:GARD"}
xref: MEDGEN:1684738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618559 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:618559"}
xref: UMLS:C5231410 {source="MEDGEN:1684738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618559"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618559"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032814
name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant
subset: gard_rare {source="GARD:17855", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:477749"}
subset: orphanet_rare {source="Orphanet:477749"}
subset: rare
synonym: "Dementia, Hereditary Multi-Infarct, Swedish Type" RELATED [OMIM:618564]
synonym: "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT" EXACT [OMIM:618564]
synonym: "PADMAL" EXACT ABBREVIATION [OMIM:618564, Orphanet:477749]
synonym: "pontine autosomal dominant microangiopathy with leukoencephalopathy" EXACT [MONDO:0018786]
xref: GARD:17855 {source="MONDO:GARD"}
xref: MEDGEN:1684781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618564 {source="MONDO:equivalentTo"}
xref: Orphanet:477749 {source="MONDO:equivalentTo", source="OMIM:618564"}
xref: UMLS:C5231411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684781"}
is_a: MONDO:0003847 {source="OMIM:618564"} ! hereditary disease
is_a: MONDO:0011057 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebrovascular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6368" xsd:anyURI

[Term]
id: MONDO:0032815
name: mitochondrial DNA depletion syndrome 17
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 17" RELATED [OMIM:618567]
synonym: "MTDPS17" RELATED ABBREVIATION [OMIM:618567]
xref: DOID:0070448 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618567 {source="MONDO:equivalentTo"}
xref: UMLS:C5231412 {source="MEDGEN:1684823", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618567"} ! hereditary disease
is_a: MONDO:0018158 {source="OMIM:618567"} ! mitochondrial DNA depletion syndrome

[Term]
id: MONDO:0032816
name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
subset: gard_rare {source="GARD:18519", source="MONDO:GARD"}
subset: rare
synonym: "NEDAHM" RELATED ABBREVIATION [OMIM:618569]
synonym: "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY" RELATED [OMIM:618569]
xref: GARD:18519 {source="MONDO:GARD"}
xref: MEDGEN:1684871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618569 {source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="OMIM:618569"}
xref: UMLS:C5231413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684871"}
is_a: MONDO:0003847 {source="OMIM:618569"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032817
name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
synonym: "NDCAGF" RELATED ABBREVIATION [OMIM:618571]
synonym: "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES" RELATED [OMIM:618571]
xref: DOID:0070346 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618571 {source="MONDO:equivalentTo"}
xref: UMLS:C5231414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684661"}
is_a: MONDO:0003847 {source="OMIM:618571"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032818
name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity
synonym: "NEDCHS" RELATED ABBREVIATION [OMIM:618572]
synonym: "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY" RELATED [OMIM:618572]
xref: MEDGEN:1684815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618572 {source="MONDO:equivalentTo"}
xref: UMLS:C5231415 {source="MEDGEN:1684815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618572"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032819
name: hypothyroidism, congenital, nongoitrous, 7
subset: gard_rare {source="GARD:16914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99832"}
subset: orphanet_rare {source="Orphanet:99832"}
subset: rare
synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [Orphanet:99832]
synonym: "CHNG7" RELATED ABBREVIATION [OMIM:618573]
synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7" RELATED [OMIM:618573]
synonym: "hypothyroidism, congenital, nongoitrous, 7" EXACT CLINGEN_LABEL []
synonym: "resistance to thyrotropin-releasing hormone syndrome" EXACT [MONDO:0020503]
synonym: "thyrotropin-releasing hormone resistance, generalised" RELATED OMO:0003005 []
synonym: "thyrotropin-releasing hormone resistance, generalized" RELATED [OMIM:618573]
synonym: "TRH resistance syndrome" EXACT [Orphanet:99832]
xref: DOID:0111836 {source="MONDO:equivalentTo"}
xref: GARD:16914 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:99832", source="Orphanet:99832/attributed", source="Orphanet:99832/ntbt"}
xref: MEDGEN:1372458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618573 {source="MONDO:equivalentTo"}
xref: Orphanet:99832 {source="MONDO:equivalentTo", source="OMIM:618573"}
xref: SCTID:725462002 {source="MONDO:equivalentTo"}
xref: UMLS:C4511136 {source="MEDGEN:1372458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000045 {source="OMIM:618573"} ! hypothyroidism, congenital, nongoitrous
is_a: MONDO:0003847 {source="OMIM:618573"} ! hereditary disease
is_a: MONDO:0016410 {source="Orphanet:99832"} ! central congenital hypothyroidism
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5106" xsd:anyURI

[Term]
id: MONDO:0032820
name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
synonym: "NEDBAF" RELATED ABBREVIATION [OMIM:618577]
synonym: "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES" RELATED [OMIM:618577]
xref: MEDGEN:1684725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618577 {source="MONDO:equivalentTo"}
xref: UMLS:C5231416 {source="MEDGEN:1684725", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618577"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032821
name: myopathy, congenital, progressive, with scoliosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "myopathy, congenital, progressive, with scoliosis" EXACT [OMIM:618578]
synonym: "MYOSCO" EXACT ABBREVIATION [OMIM:618578]
xref: DOID:0081351 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618578 {source="MONDO:equivalentTo"}
xref: UMLS:C5231417 {source="MEDGEN:1684769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618578"} ! hereditary disease
is_a: MONDO:0019952 {source="OMIM:618578"} ! congenital myopathy

[Term]
id: MONDO:0032822
name: developmental and epileptic encephalopathy, 80
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE80" EXACT ABBREVIATION [OMIM:618580]
synonym: "developmental and epileptic encephalopathy 80" EXACT [OMIM:618580, OMIM:genemap2]
synonym: "EIEE80" EXACT ABBREVIATION [OMIM:618580]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80" EXACT [OMIM:618580]
synonym: "epileptic encephalopathy, early infantile, 80" EXACT [OMIM:618580]
synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 20" RELATED [OMIM:618580]
xref: DOID:0112216 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618580 {source="MONDO:equivalentTo"}
xref: UMLS:C5231418 {source="MEDGEN:1684779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618580"} ! hereditary disease
is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis
is_a: MONDO:0100062 {source="OMIM:618580"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8959 {source="OMIM:618580"} ! PIGB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032823
name: intellectual developmental disorder 60 with seizures
subset: gard_rare {source="GARD:16367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES" RELATED [OMIM:618587]
synonym: "Mental Retardation, Autosomal Dominant 60, With Seizures" RELATED [OMIM:618587]
synonym: "MRD60" RELATED ABBREVIATION [OMIM:618587]
xref: GARD:16367 {source="MONDO:GARD"}
xref: MEDGEN:1684702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618587 {source="MONDO:equivalentTo"}
xref: Orphanet:1942 {source="OMIM:618587"}
xref: UMLS:C5231497 {source="MEDGEN:1684702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618587"} ! hereditary disease
is_a: MONDO:0015802 {source="OMIM:618587"} ! autosomal dominant non-syndromic intellectual disability

[Term]
id: MONDO:0032824
name: glycosylphosphatidylinositol biosynthesis defect 21
subset: clingen {source="MONDO:CLINGEN"}
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21" RELATED [OMIM:618590]
synonym: "GPIBD21" RELATED ABBREVIATION [OMIM:618590]
synonym: "Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis" RELATED [OMIM:618590]
xref: MEDGEN:1684749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618590 {source="MONDO:equivalentTo"}
xref: UMLS:C5231419 {source="MEDGEN:1684749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618590"} ! hereditary disease

[Term]
id: MONDO:0032826
name: nephrotic syndrome, type 21
synonym: "NEPHROTIC SYNDROME, TYPE 21" RELATED [OMIM:618594]
synonym: "NPHS21" RELATED ABBREVIATION [OMIM:618594]
xref: DOID:0112267 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618594 {source="MONDO:equivalentTo"}
xref: UMLS:C5231498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684676"}
is_a: MONDO:0002350 {source="OMIM:618594"} ! familial nephrotic syndrome
is_a: MONDO:0003847 {source="OMIM:618594"} ! hereditary disease

[Term]
id: MONDO:0032827
name: epilepsy, idiopathic generalized, susceptibility to, 16
synonym: "EIG16" EXACT ABBREVIATION [OMIM:618596]
xref: MEDGEN:1684869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618596 {source="MONDO:equivalentTo"}
xref: UMLS:C5231421 {source="MEDGEN:1684869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:618596"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618596", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005579 {source="OMIM:618596", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy, idiopathic generalized
relationship: predisposes_towards MONDO:0005579 {source="OMIM:618596"} ! epilepsy, idiopathic generalized
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2543" xsd:anyURI

[Term]
id: MONDO:0032828
name: spastic tetraplegia and axial hypotonia, progressive
synonym: "Sod1 Deficiency, Autosomal Recessive" RELATED [OMIM:618598]
synonym: "SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE" RELATED [OMIM:618598]
synonym: "STAHP" RELATED ABBREVIATION [OMIM:618598]
xref: MEDGEN:1684731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618598 {source="MONDO:equivalentTo"}
xref: UMLS:C5231422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684731"}
is_a: MONDO:0003847 {source="OMIM:618598"} ! hereditary disease

[Term]
id: MONDO:0032829
name: neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
subset: clingen {source="MONDO:CLINGEN"}
synonym: "NEDHIB" RELATED ABBREVIATION [OMIM:618603]
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618603]
synonym: "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" EXACT CLINGEN_LABEL []
xref: MEDGEN:1684818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618603 {source="MONDO:equivalentTo"}
xref: UMLS:C5231423 {source="MEDGEN:1684818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618603"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032830
name: snijders blok-fisher syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656135"}
subset: orphanet_rare {source="Orphanet:656135"}
subset: rare
synonym: "SNIBFIS" RELATED ABBREVIATION [OMIM:618604]
synonym: "SNIJDERS BLOK-FISHER SYNDROME" RELATED [OMIM:618604]
xref: MEDGEN:1684801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618604 {source="MONDO:equivalentTo"}
xref: Orphanet:656135 {source="MONDO:equivalentTo"}
xref: UMLS:C5231424 {source="MEDGEN:1684801", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618604"} ! hereditary disease

[Term]
id: MONDO:0032831
name: pontocerebellar hypoplasia, type 13
subset: gard_rare {source="GARD:18031", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:613267"}
subset: orphanet_rare {source="Orphanet:613267"}
subset: rare
synonym: "PCH13" EXACT ABBREVIATION [OMIM:618606, Orphanet:613267]
synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 13" EXACT [OMIM:618606]
xref: DOID:0112332 {source="MONDO:equivalentTo"}
xref: GARD:18031 {source="MONDO:GARD"}
xref: MEDGEN:1684708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618606 {source="MONDO:equivalentTo"}
xref: Orphanet:613267 {source="MONDO:equivalentTo"}
xref: UMLS:C5231425 {source="MEDGEN:1684708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618606"} ! hereditary disease
is_a: MONDO:0020135 {source="OMIM:618606"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0032832
name: intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
synonym: "Chromosome 12Q15 Deletion Syndrome" RELATED [OMIM:618608]
synonym: "IDNADFS" RELATED ABBREVIATION [OMIM:618608]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES" RELATED [OMIM:618608]
xref: MEDGEN:1684881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618608 {source="MONDO:equivalentTo"}
xref: UMLS:C5231426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684881"}
is_a: MONDO:0003847 {source="OMIM:618608"} ! hereditary disease

[Term]
id: MONDO:0032833
name: lower urinary tract obstruction, congenital
synonym: "LOWER URINARY TRACT OBSTRUCTION, CONGENITAL" RELATED [OMIM:618612]
synonym: "LUTO" RELATED ABBREVIATION [OMIM:618612]
xref: MEDGEN:1684849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618612 {source="MONDO:equivalentTo"}
xref: Orphanet:93110 {source="OMIM:618612"}
xref: UMLS:C5231427 {source="MEDGEN:1684849", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618612"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0032834
name: retinitis pigmentosa 86
subset: gard_rare {source="GARD:16368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RETINITIS PIGMENTOSA 86" RELATED [OMIM:618613]
synonym: "RP86" RELATED ABBREVIATION [OMIM:618613]
xref: DOID:0112143 {source="MONDO:equivalentTo"}
xref: GARD:16368 {source="MONDO:GARD"}
xref: MEDGEN:1684789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618613 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:618613"}
xref: UMLS:C5231428 {source="MEDGEN:1684789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618613"} ! hereditary disease
is_a: MONDO:0019200 {source="OMIM:618613"} ! retinitis pigmentosa

[Term]
id: MONDO:0032835
name: spondyloepiphyseal dysplasia, nishimura type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SEDN" RELATED ABBREVIATION [OMIM:618618]
synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE" RELATED [OMIM:618618]
xref: DOID:0112288 {source="MONDO:equivalentTo"}
xref: MEDGEN:930816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618618 {source="MONDO:equivalentTo"}
xref: Orphanet:163649 {source="OMIM:618618"}
xref: UMLS:C4305147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930816"}
is_a: MONDO:0003847 {source="OMIM:618618"} ! hereditary disease
is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0032836
name: weiss-kruszka syndrome
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: obsoletion_candidate
synonym: "WEISS-KRUSZKA SYNDROME" RELATED [OMIM:618619]
synonym: "weiss-kruszka syndrome" EXACT CLINGEN_LABEL []
synonym: "WSKA" RELATED ABBREVIATION [OMIM:618619]
xref: MEDGEN:1684748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618619 {source="MONDO:equivalentTo"}
xref: UMLS:C5231429 {source="MEDGEN:1684748", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618619"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7641" xsd:anyURI
property_value: IAO:0006012 "2024-08-01" xsd:string

[Term]
id: MONDO:0032837
name: abdominal obesity-metabolic syndrome 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ABDOMINAL OBESITY-METABOLIC SYNDROME 4" RELATED [OMIM:618620]
synonym: "AOMS4" RELATED ABBREVIATION [OMIM:618620]
xref: DOID:0080945 {source="MONDO:equivalentTo"}
xref: MEDGEN:1704861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618620 {source="MONDO:equivalentTo"}
xref: UMLS:C5231430 {source="MEDGEN:1704861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000816 {source="OMIM:618620"} ! abdominal obesity-metabolic syndrome
is_a: MONDO:0003847 {source="OMIM:618620"} ! hereditary disease

[Term]
id: MONDO:0032838
name: neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
synonym: "NEDMABA" RELATED ABBREVIATION [OMIM:618622]
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES" RELATED [OMIM:618622]
xref: MEDGEN:1684840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618622 {source="MONDO:equivalentTo"}
xref: UMLS:C5231431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684840"}
is_a: MONDO:0003847 {source="OMIM:618622"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032839
name: noonan syndrome 12
subset: gard_rare {source="GARD:16369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NOONAN SYNDROME 12" RELATED [OMIM:618624]
synonym: "NS12" RELATED ABBREVIATION [OMIM:618624]
xref: DOID:0112170 {source="MONDO:equivalentTo"}
xref: GARD:16369 {source="MONDO:GARD"}
xref: MEDGEN:1684730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C177120 {source="MONDO:equivalentTo"}
xref: OMIM:618624 {source="MONDO:equivalentTo"}
xref: Orphanet:648 {source="OMIM:618624"}
xref: UMLS:C5231432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684730"}
is_a: MONDO:0003847 {source="OMIM:618624"} ! hereditary disease
is_a: MONDO:0018997 {source="OMIM:618624"} ! Noonan syndrome

[Term]
id: MONDO:0032841
name: Usher syndrome, type 1M
subset: gard_rare {source="GARD:16370", source="MONDO:GARD"}
subset: rare
synonym: "USH1M" RELATED ABBREVIATION [OMIM:618632]
synonym: "USHER SYNDROME, TYPE 1M" RELATED [OMIM:618632]
xref: GARD:16370 {source="MONDO:GARD"}
xref: MEDGEN:1684669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618632 {source="MONDO:equivalentTo"}
xref: Orphanet:231169 {source="OMIM:618632"}
xref: UMLS:C5231434 {source="MEDGEN:1684669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618632"} ! hereditary disease

[Term]
id: MONDO:0032842
name: Siddiqi syndrome
subset: clingen {source="MONDO:CLINGEN"}
synonym: "Deafness, Dystonia, Developmental Delay, and Poor Growth" RELATED [OMIM:618635]
synonym: "SIDDIQI SYNDROME" RELATED [OMIM:618635]
synonym: "SIDDIS" RELATED ABBREVIATION [OMIM:618635]
xref: DOID:0081273 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618635 {source="MONDO:equivalentTo"}
xref: UMLS:C5231435 {source="MEDGEN:1684813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618635"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16135 {source="OMIM:618635", source="https://search.clinicalgenome.org/kb/genes/HGNC:16135"} ! FITM2

[Term]
id: MONDO:0032843
name: oculopharyngeal myopathy with leukoencephalopathy 1
subset: otar {source="MONDO:OTAR"}
synonym: "OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1" RELATED [OMIM:618637]
synonym: "OPML1" RELATED ABBREVIATION [OMIM:618637]
xref: MEDGEN:1684701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618637 {source="MONDO:equivalentTo"}
xref: UMLS:C5231436 {source="MEDGEN:1684701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618637"} ! hereditary disease

[Term]
id: MONDO:0032844
name: infantile liver failure syndrome 3
subset: gard_rare {source="GARD:16483", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ILFS3" RELATED ABBREVIATION [OMIM:618641]
synonym: "INFANTILE LIVER FAILURE SYNDROME 3" RELATED [OMIM:618641]
xref: GARD:16483 {source="MONDO:GARD"}
xref: MEDGEN:1684678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618641 {source="MONDO:equivalentTo"}
xref: Orphanet:464724 {source="OMIM:618641"}
xref: UMLS:C5231437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684678"}
is_a: MONDO:0000023 {source="OMIM:618641"} ! infantile liver failure
is_a: MONDO:0003847 {source="OMIM:618641"} ! hereditary disease

[Term]
id: MONDO:0032845
name: spermatogenic failure 39
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18410", source="MONDO:GARD"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 39" RELATED [OMIM:618643]
synonym: "SPGF39" RELATED ABBREVIATION [OMIM:618643]
xref: DOID:0111926 {source="MONDO:equivalentTo"}
xref: GARD:18410 {source="MONDO:GARD"}
xref: MEDGEN:1684778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618643 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:618643"}
xref: UMLS:C5231438 {source="MEDGEN:1684778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618643"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618643"} ! spermatogenic failure

[Term]
id: MONDO:0032846
name: osteogenesis imperfecta, type 20
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "OI20" RELATED ABBREVIATION [OMIM:618644]
synonym: "OSTEOGENESIS IMPERFECTA, TYPE XX" RELATED [OMIM:618644]
xref: DOID:0111849 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618644 {source="MONDO:equivalentTo"}
xref: UMLS:C5231439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684751"}
is_a: MONDO:0003847 {source="OMIM:618644"} ! hereditary disease
is_a: MONDO:0019019 {source="OMIM:618644"} ! osteogenesis imperfecta

[Term]
id: MONDO:0032848
name: immunodeficiency 65, susceptibility to viral infections
synonym: "IMD65" RELATED ABBREVIATION [OMIM:618648]
synonym: "IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS" RELATED [OMIM:618648]
xref: DOID:0111978 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618648 {source="MONDO:equivalentTo"}
xref: UMLS:C5231441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684865"}
is_a: MONDO:0003847 {source="OMIM:618648"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618648"} ! immunodeficiency disease

[Term]
id: MONDO:0032849
name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
synonym: "Halperin-Birk syndrome" EXACT [OMIM:618651, OMIM:genemap2]
synonym: "NEDSOSB" RELATED ABBREVIATION [OMIM:618651]
synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES" RELATED [OMIM:618651]
xref: DOID:0070539 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618651 {source="MONDO:equivalentTo"}
xref: UMLS:C5231442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684884"}
is_a: MONDO:0003847 {source="OMIM:618651"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032850
name: neurooculocardiogenitourinary syndrome
synonym: "NEUROOCULOCARDIOGENITOURINARY SYNDROME" RELATED [OMIM:618652]
synonym: "NOCGUS" RELATED ABBREVIATION [OMIM:618652]
xref: DOID:0111675 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618652 {source="MONDO:equivalentTo"}
xref: UMLS:C5231443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684841"}
is_a: MONDO:0003847 {source="OMIM:618652"} ! hereditary disease

[Term]
id: MONDO:0032851
name: intellectual developmental disorder with impaired language and dysmorphic facies
subset: gard_rare {source="GARD:18520", source="MONDO:GARD"}
subset: rare
synonym: "IDDILF" RELATED ABBREVIATION [OMIM:618653]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES" RELATED [OMIM:618653]
xref: GARD:18520 {source="MONDO:GARD"}
xref: MEDGEN:1684804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618653 {source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="OMIM:618653"}
xref: UMLS:C5231444 {source="MEDGEN:1684804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618653"} ! hereditary disease

[Term]
id: MONDO:0032852
name: myopathy, congenital, with structured cores and z-line abnormalities
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Multiple Structured Core Disease" RELATED [OMIM:618654]
synonym: "MYOCOZ" RELATED ABBREVIATION [OMIM:618654]
synonym: "myopathy, congenital with structured cores and z-line abnormalities" EXACT [OMIM:618654, OMIM:genemap2]
synonym: "MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES" RELATED [OMIM:618654]
xref: DOID:0081342 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618654 {source="MONDO:equivalentTo"}
xref: UMLS:C5231445 {source="MEDGEN:1684705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618654"} ! hereditary disease
is_a: MONDO:0019952 {source="OMIM:618654"} ! congenital myopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032853
name: myopathy, distal, 6, adult-onset, autosomal dominant
synonym: "MPD6" RELATED ABBREVIATION [OMIM:618655]
synonym: "myopathy, distal, 6, adult onset" EXACT [OMIM:618655, OMIM:genemap2]
synonym: "MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT" RELATED [OMIM:618655]
xref: MEDGEN:1684760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618655 {source="MONDO:equivalentTo"}
xref: UMLS:C5203349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684760"}
is_a: MONDO:0003847 {source="OMIM:618655"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032854
name: zimmermann-laband syndrome 3
subset: gard_rare {source="GARD:16371", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ZIMMERMANN-LABAND SYNDROME 3" RELATED [OMIM:618658]
synonym: "ZLS3" RELATED ABBREVIATION [OMIM:618658]
xref: GARD:16371 {source="MONDO:GARD"}
xref: MEDGEN:1684740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618658 {source="MONDO:equivalentTo"}
xref: Orphanet:3473 {source="OMIM:618658"}
xref: UMLS:C5231447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684740"}
is_a: MONDO:0000200 {source="OMIM:618658"} ! Zimmermann-Laband syndrome
is_a: MONDO:0003847 {source="OMIM:618658"} ! hereditary disease

[Term]
id: MONDO:0032855
name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
subset: gard_rare {source="GARD:18521", source="MONDO:GARD"}
subset: rare
synonym: "NEDDFSA" RELATED ABBREVIATION [OMIM:618659]
synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES" RELATED [OMIM:618659]
xref: GARD:18521 {source="MONDO:GARD"}
xref: MEDGEN:1684792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618659 {source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="OMIM:618659"}
xref: UMLS:C5231448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684792"}
is_a: MONDO:0003847 {source="OMIM:618659"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032857
name: diarrhea 11, malabsorptive, congenital
synonym: "DIAR11" RELATED ABBREVIATION [OMIM:618662]
synonym: "DIARRHEA 11, MALABSORPTIVE, CONGENITAL" RELATED [OMIM:618662]
synonym: "Intractable Diarrhea of Infancy Syndrome" RELATED [OMIM:618662]
synonym: "Intractable Diarrhoea of Infancy Syndrome" RELATED OMO:0003005 []
xref: MEDGEN:1684754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618662 {source="MONDO:equivalentTo"}
xref: Orphanet:1670 {source="OMIM:618662"}
xref: UMLS:C5231449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684754"}
is_a: MONDO:0000824 {source="OMIM:618662"} ! congenital diarrhea
is_a: MONDO:0003847 {source="OMIM:618662"} ! hereditary disease

[Term]
id: MONDO:0032858
name: developmental and epileptic encephalopathy, 81
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE81" EXACT ABBREVIATION [OMIM:618663]
synonym: "developmental and epileptic encephalopathy 81" EXACT [OMIM:618663, OMIM:genemap2]
synonym: "EIEE81" EXACT ABBREVIATION [OMIM:618663]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81" EXACT [OMIM:618663]
synonym: "epileptic encephalopathy, early infantile, 81" EXACT [OMIM:618663]
xref: DOID:0112217 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618663 {source="MONDO:equivalentTo"}
xref: UMLS:C5231450 {source="MEDGEN:1684681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618663"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618663"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032859
name: spermatogenic failure 40
subset: gard_rare {source="GARD:18411", source="MONDO:GARD"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 40" RELATED [OMIM:618664]
synonym: "SPGF40" RELATED ABBREVIATION [OMIM:618664]
xref: DOID:0111918 {source="MONDO:equivalentTo"}
xref: GARD:18411 {source="MONDO:GARD"}
xref: MEDGEN:1684662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618664 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:618664"}
xref: UMLS:C5231451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684662"}
is_a: MONDO:0003847 {source="OMIM:618664"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618664"} ! spermatogenic failure

[Term]
id: MONDO:0032860
name: intellectual developmental disorder, autosomal recessive 72
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72" RELATED [OMIM:618665]
synonym: "Mental Retardation, Autosomal Recessive 72" RELATED [OMIM:618665]
synonym: "MRT72" RELATED ABBREVIATION [OMIM:618665]
xref: DOID:0080765 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618665 {source="MONDO:equivalentTo"}
xref: UMLS:C5231452 {source="MEDGEN:1684805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618665"} ! hereditary disease
is_a: MONDO:0019502 {source="OMIM:618665"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0032862
name: hydrocephalus, congenital communicating, 1
subset: gard_rare {source="GARD:18090", source="MONDO:GARD"}
subset: rare
synonym: "HYDCC1" RELATED ABBREVIATION [OMIM:618667]
synonym: "HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1" RELATED [OMIM:618667]
xref: GARD:18090 {source="MONDO:GARD"}
xref: MEDGEN:1684770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618667 {source="MONDO:equivalentTo"}
xref: Orphanet:90030 {source="OMIM:618667"}
xref: UMLS:C5231454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684770"}
is_a: MONDO:0003847 {source="OMIM:618667"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0032863
name: spermatogenic failure 41
subset: gard_rare {source="GARD:18412", source="MONDO:GARD"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 41" RELATED [OMIM:618670]
synonym: "SPGF41" RELATED ABBREVIATION [OMIM:618670]
xref: DOID:0111912 {source="MONDO:equivalentTo"}
xref: GARD:18412 {source="MONDO:GARD"}
xref: MEDGEN:1684739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618670 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:618670"}
xref: UMLS:C5231455 {source="MEDGEN:1684739", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618670"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618670"} ! spermatogenic failure

[Term]
id: MONDO:0032864
name: intellectual developmental disorder with speech delay, autism, and dysmorphic facies
synonym: "IDDSADF" RELATED ABBREVIATION [OMIM:618672]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES" RELATED [OMIM:618672]
xref: MEDGEN:1684848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618672 {source="MONDO:equivalentTo"}
xref: UMLS:C5231456 {source="MEDGEN:1684848", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618672"} ! hereditary disease

[Term]
id: MONDO:0032865
name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PFBMFT5" RELATED ABBREVIATION [OMIM:618674]
synonym: "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5" RELATED [OMIM:618674]
synonym: "ZCCHC8-related telomere biology disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40138/]
xref: MEDGEN:1684878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618674 {source="MONDO:equivalentTo"}
xref: UMLS:C5231457 {source="MEDGEN:1684878", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000148 {source="OMIM:618674"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related
is_a: MONDO:0003847 {source="OMIM:618674"} ! hereditary disease

[Term]
id: MONDO:0032866
name: cortical dysplasia, complex, with other brain malformations 10
synonym: "CDCBM10" RELATED ABBREVIATION [OMIM:618677]
synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10" RELATED [OMIM:618677]
xref: MEDGEN:1684859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618677 {source="MONDO:equivalentTo"}
xref: UMLS:C5231458 {source="MEDGEN:1684859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000904 {source="OMIM:618677"} ! complex cortical dysplasia with other brain malformations
is_a: MONDO:0003847 {source="OMIM:618677"} ! hereditary disease

[Term]
id: MONDO:0032867
name: pancreatic cancer, susceptibility to, 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PANCREATIC CANCER, SUSCEPTIBILITY TO, 5" RELATED [OMIM:618680]
synonym: "PNCA5" RELATED ABBREVIATION [OMIM:618680]
xref: MEDGEN:1684838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618680 {source="MONDO:equivalentTo"}
xref: UMLS:C5231459 {source="MEDGEN:1684838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:618680"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618680", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0009831 {source="OMIM:618680"} ! malignant pancreatic neoplasm

[Term]
id: MONDO:0032868
name: lessel-kubisch syndrome
synonym: "LESSEL-KUBISCH SYNDROME" RELATED [OMIM:618681]
synonym: "LSKB" RELATED ABBREVIATION [OMIM:618681]
xref: MEDGEN:1684750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618681 {source="MONDO:equivalentTo"}
xref: UMLS:C5231460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684750"}
is_a: MONDO:0003847 {source="OMIM:618681"} ! hereditary disease

[Term]
id: MONDO:0032869
name: mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
subset: gard_rare {source="GARD:18673", source="MONDO:GARD"}
subset: rare
synonym: "MC5DN6" RELATED ABBREVIATION [OMIM:618683]
synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6" RELATED [OMIM:618683]
xref: DOID:0111749 {source="MONDO:equivalentTo"}
xref: GARD:18673 {source="MONDO:GARD"}
xref: MEDGEN:1684729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618683 {source="MONDO:equivalentTo"}
xref: Orphanet:254913 {source="OMIM:618683"}
xref: UMLS:C5231461 {source="MONDO:equivalentTo", source="MEDGEN:1684729", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618683"} ! hereditary disease
is_a: MONDO:0014471 {source="OMIM:618683"} ! mitochondrial proton-transporting ATP synthase complex deficiency

[Term]
id: MONDO:0032870
name: intellectual developmental disorder with short stature and behavioral abnormalities
subset: gard_rare {source="GARD:22581", source="MONDO:GARD"}
subset: rare
synonym: "IDDSSBA" RELATED ABBREVIATION [OMIM:618687]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618687]
xref: DOID:0111674 {source="MONDO:equivalentTo"}
xref: GARD:22581 {source="MONDO:GARD"}
xref: MEDGEN:1684812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618687 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:618687"}
xref: UMLS:C5231462 {source="MEDGEN:1684812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618687"} ! hereditary disease

[Term]
id: MONDO:0032871
name: leukodystrophy, hypomyelinating, 19, transient infantile
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD19" RELATED ABBREVIATION [OMIM:618688]
synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE" RELATED [OMIM:618688]
xref: DOID:0070400 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618688 {source="MONDO:equivalentTo"}
xref: UMLS:C5231463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684698"}
is_a: MONDO:0003847 {source="OMIM:618688"} ! hereditary disease
is_a: MONDO:0019046 {source="OMIM:618688"} ! leukodystrophy

[Term]
id: MONDO:0032872
name: ciliary dyskinesia, primary, 42
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CILD42" RELATED ABBREVIATION [OMIM:618695]
synonym: "CILIARY DYSKINESIA, PRIMARY, 42" RELATED [OMIM:618695]
synonym: "Ciliary Dyskinesia, Primary, 42, Without Situs Inversus" RELATED [OMIM:618695]
xref: DOID:0111855 {source="MONDO:equivalentTo"}
xref: GARD:16373 {source="MONDO:GARD"}
xref: MEDGEN:1684665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618695 {source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:618695"}
xref: UMLS:C5231464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684665"}
is_a: MONDO:0003847 {source="OMIM:618695"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:618695"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0032873
name: retinitis pigmentosa 87 with choroidal involvement
subset: gard_rare {source="GARD:16374", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT" RELATED [OMIM:618697]
synonym: "RP87" RELATED ABBREVIATION [OMIM:618697]
xref: GARD:16374 {source="MONDO:GARD"}
xref: MEDGEN:1684667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618697 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:618697"}
xref: UMLS:C5231465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684667"}
is_a: MONDO:0003847 {source="OMIM:618697"} ! hereditary disease
is_a: MONDO:0019200 {source="OMIM:618697"} ! retinitis pigmentosa
is_a: MONDO:0100452 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65-related dominant retinopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="OMIM:618697"} ! RPE65

[Term]
id: MONDO:0032874
name: ciliary dyskinesia, primary, 43
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CILD43" RELATED ABBREVIATION [OMIM:618699]
synonym: "CILIARY DYSKINESIA, PRIMARY, 43" RELATED [OMIM:618699]
synonym: "Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus" RELATED [OMIM:618699]
xref: DOID:0111856 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618699 {source="MONDO:equivalentTo"}
xref: UMLS:C5231466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684675"}
is_a: MONDO:0003847 {source="OMIM:618699"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:618699"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0032875
name: short stature and microcephaly with genital anomalies
synonym: "SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES" RELATED [OMIM:618702]
synonym: "SSMGA" RELATED ABBREVIATION [OMIM:618702]
xref: MEDGEN:1684791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618702 {source="MONDO:equivalentTo"}
xref: UMLS:C5231467 {source="MEDGEN:1684791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618702"} ! hereditary disease

[Term]
id: MONDO:0032876
name: neurodevelopmental disorder with absent language and variable seizures
synonym: "Ito-Raymond Syndrome" RELATED [OMIM:618707]
synonym: "NEDALVS" RELATED ABBREVIATION [OMIM:618707]
synonym: "NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES" RELATED [OMIM:618707]
xref: MEDGEN:1684803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618707 {source="MONDO:equivalentTo"}
xref: UMLS:C5231469 {source="MEDGEN:1684803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618707"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032877
name: neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
synonym: "NEDBAS" RELATED ABBREVIATION [OMIM:618709]
synonym: "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES" RELATED [OMIM:618709]
synonym: "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" EXACT CLINGEN_LABEL []
xref: MEDGEN:1684757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618709 {source="MONDO:equivalentTo"}
xref: UMLS:C5231470 {source="MEDGEN:1684757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618709"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032878
name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
synonym: "NEDBASH" RELATED ABBREVIATION [OMIM:618718]
synonym: "NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA" RELATED [OMIM:618718]
xref: MEDGEN:1684663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618718 {source="MONDO:equivalentTo"}
xref: UMLS:C5231471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684663"}
is_a: MONDO:0003847 {source="OMIM:618718"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032879
name: megabladder, congenital
synonym: "MEGABLADDER, CONGENITAL" RELATED [OMIM:618719]
synonym: "MGBL" RELATED ABBREVIATION [OMIM:618719]
xref: DOID:0112014 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618719 {source="MONDO:equivalentTo"}
xref: UMLS:C5231472 {source="MONDO:equivalentTo", source="MEDGEN:1684806", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618719"} ! hereditary disease

[Term]
id: MONDO:0032880
name: developmental and epileptic encephalopathy, 82
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE82" EXACT ABBREVIATION [OMIM:618721]
synonym: "developmental and epileptic encephalopathy 82" EXACT [OMIM:618721, OMIM:genemap2]
synonym: "EIEE82" EXACT ABBREVIATION [OMIM:618721]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82" EXACT [OMIM:618721]
synonym: "epileptic encephalopathy, early infantile, 82" EXACT [OMIM:618721]
synonym: "Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of" RELATED [OMIM:618721]
synonym: "Got2 Deficiency" RELATED [OMIM:618721]
xref: DOID:0080715 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618721 {source="MONDO:equivalentTo"}
xref: UMLS:C5231473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684694"}
is_a: MONDO:0003847 {source="OMIM:618721"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618721"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032881
name: premature ovarian failure 16
subset: gard_rare {source="GARD:18044", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF16" RELATED ABBREVIATION [OMIM:618723]
synonym: "PREMATURE OVARIAN FAILURE 16" RELATED [OMIM:618723]
xref: DOID:0080873 {source="MONDO:equivalentTo"}
xref: GARD:18044 {source="MONDO:GARD"}
xref: MEDGEN:1684679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618723 {source="MONDO:equivalentTo"}
xref: Orphanet:243 {source="OMIM:618723"}
xref: UMLS:C5231474 {source="MEDGEN:1684679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618723"} ! hereditary disease
is_a: MONDO:0019852 {source="OMIM:618723"} ! inherited primary ovarian failure

[Term]
id: MONDO:0032882
name: Heyn-Sproul-Jackson syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658595"}
subset: orphanet_rare {source="Orphanet:658595"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HESJAS" RELATED ABBREVIATION [OMIM:618724]
synonym: "HEYN-SPROUL-JACKSON SYNDROME" RELATED [OMIM:618724]
synonym: "Microcephaly, Short Stature, and Impaired Intellectual Development" RELATED [OMIM:618724]
xref: MEDGEN:1684743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618724 {source="MONDO:equivalentTo"}
xref: Orphanet:658595 {source="MONDO:equivalentTo"}
xref: UMLS:C5231475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684743"}
is_a: MONDO:0003847 {source="OMIM:618724"} ! hereditary disease

[Term]
id: MONDO:0032883
name: intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
synonym: "IDDBCS" RELATED ABBREVIATION [OMIM:618725]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES" RELATED [OMIM:618725]
xref: MEDGEN:1684850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618725 {source="MONDO:equivalentTo"}
xref: UMLS:C5231476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684850"}
is_a: MONDO:0003847 {source="OMIM:618725"} ! hereditary disease

[Term]
id: MONDO:0032884
name: ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
subset: otar {source="MONDO:OTAR"}
synonym: "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES" RELATED [OMIM:618727]
synonym: "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" EXACT [OMIM:618727, OMIM:genemap2]
synonym: "EDFAOB" RELATED ABBREVIATION [OMIM:618727]
xref: MEDGEN:1684719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618727 {source="MONDO:equivalentTo"}
xref: UMLS:C5231477 {source="MEDGEN:1684719", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618727"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032885
name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type
subset: otar {source="MONDO:OTAR"}
synonym: "SEMDIST" RELATED ABBREVIATION [OMIM:618728]
synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE" RELATED [OMIM:618728]
xref: MEDGEN:1684771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618728 {source="MONDO:equivalentTo"}
xref: UMLS:C5231478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684771"}
is_a: MONDO:0003847 {source="OMIM:618728"} ! hereditary disease

[Term]
id: MONDO:0032886
name: Liang-Wang syndrome
subset: ordo_disorder {source="Orphanet:664438"}
subset: orphanet_rare {source="Orphanet:664438"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LIANG-WANG SYNDROME" RELATED [OMIM:618729]
synonym: "LIWAS" RELATED ABBREVIATION [OMIM:618729]
xref: MEDGEN:1684847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618729 {source="MONDO:equivalentTo"}
xref: Orphanet:664438 {source="MONDO:equivalentTo"}
xref: UMLS:C5231479 {source="MEDGEN:1684847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618729"} ! hereditary disease

[Term]
id: MONDO:0032887
name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
subset: otar {source="MONDO:OTAR"}
synonym: "NEDMCMS" RELATED ABBREVIATION [OMIM:618730]
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY" RELATED [OMIM:618730]
synonym: "Vandervore-Schot Syndrome" RELATED [OMIM:618730]
xref: MEDGEN:1684695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618730 {source="MONDO:equivalentTo"}
xref: UMLS:C5231480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684695"}
is_a: MONDO:0003847 {source="OMIM:618730"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032888
name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
subset: otar {source="MONDO:OTAR"}
synonym: "NEDBAVC" RELATED ABBREVIATION [OMIM:618731]
synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES" RELATED [OMIM:618731]
xref: MEDGEN:1684772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618731 {source="MONDO:equivalentTo"}
xref: UMLS:C5231481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684772"}
is_a: MONDO:0003847 {source="OMIM:618731"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032889
name: Poirier-Bienvenu neurodevelopmental syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "POBINDS" RELATED ABBREVIATION [OMIM:618732]
synonym: "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME" RELATED [OMIM:618732]
xref: MEDGEN:1684718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618732 {source="MONDO:equivalentTo"}
xref: UMLS:C5231482 {source="MONDO:equivalentTo", source="MEDGEN:1684718", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618732"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032890
name: neuromuscular disease and ocular or auditory anomalies with or without seizures
subset: otar {source="MONDO:OTAR"}
synonym: "NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES" RELATED [OMIM:618733]
synonym: "NMOAS" RELATED ABBREVIATION [OMIM:618733]
xref: MEDGEN:1684689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618733 {source="MONDO:equivalentTo"}
xref: UMLS:C5231483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684689"}
is_a: MONDO:0003847 {source="OMIM:618733"} ! hereditary disease

[Term]
id: MONDO:0032891
name: aneurysm, intracranial berry, 12
subset: gard_rare {source="GARD:18330", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANEURYSM, INTRACRANIAL BERRY, 12" RELATED [OMIM:618734]
synonym: "ANIB12" RELATED ABBREVIATION [OMIM:618734]
xref: DOID:0080975 {source="MONDO:equivalentTo"}
xref: GARD:18330 {source="MONDO:GARD"}
xref: MEDGEN:1684660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618734 {source="MONDO:equivalentTo"}
xref: UMLS:C5231484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684660"}
is_a: MONDO:0003847 {source="OMIM:618734"} ! hereditary disease
is_a: MONDO:0016483 {source="OMIM:618734"} ! intracranial berry aneurysm

[Term]
id: MONDO:0032892
name: structural brain anomalies with impaired intellectual development and craniosynostosis
subset: otar {source="MONDO:OTAR"}
synonym: "BAIDCS" RELATED ABBREVIATION [OMIM:618736]
synonym: "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS" RELATED [OMIM:618736]
xref: MEDGEN:1684861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618736 {source="MONDO:equivalentTo"}
xref: UMLS:C5231485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684861"}
is_a: MONDO:0003847 {source="OMIM:618736"} ! hereditary disease

[Term]
id: MONDO:0032893
name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
subset: otar {source="MONDO:OTAR"}
synonym: "PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES" RELATED [OMIM:618737]
synonym: "PAMDDFS" RELATED ABBREVIATION [OMIM:618737]
xref: DOID:0081266 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618737 {source="MONDO:equivalentTo"}
xref: UMLS:C5231486 {source="MEDGEN:1684879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618737"} ! hereditary disease

[Term]
id: MONDO:0032894
name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
subset: otar {source="MONDO:OTAR"}
synonym: "NEDESBA" RELATED ABBREVIATION [OMIM:618741]
synonym: "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY" RELATED [OMIM:618741]
xref: MEDGEN:1717952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618741 {source="MONDO:equivalentTo"}
xref: UMLS:C5394027 {source="MEDGEN:1717952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618741"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032895
name: developmental and epileptic encephalopathy, 83
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Barakat-Perenthaler Syndrome" RELATED [OMIM:618744]
synonym: "DEE83" EXACT ABBREVIATION [OMIM:618744]
synonym: "developmental and epileptic encephalopathy 83" EXACT [OMIM:618744, OMIM:genemap2]
synonym: "EIEE83" EXACT ABBREVIATION [OMIM:618744]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83" EXACT [OMIM:618744]
synonym: "epileptic encephalopathy, early infantile, 83" EXACT [OMIM:618744]
xref: DOID:0112218 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618744 {source="MONDO:equivalentTo"}
xref: UMLS:C5231487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684784"}
is_a: MONDO:0003847 {source="OMIM:618744"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618744"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032896
name: spermatogenic failure 42
subset: gard_rare {source="GARD:18413", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 42" RELATED [OMIM:618745]
synonym: "SPGF42" RELATED ABBREVIATION [OMIM:618745]
xref: DOID:0111923 {source="MONDO:equivalentTo"}
xref: GARD:18413 {source="MONDO:GARD"}
xref: MEDGEN:1684744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618745 {source="MONDO:equivalentTo"}
xref: UMLS:C5231488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684744"}
is_a: MONDO:0003847 {source="OMIM:618745"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618745"} ! spermatogenic failure

[Term]
id: MONDO:0032897
name: intellectual developmental disorder with hypotonia and behavioral abnormalities
subset: otar {source="MONDO:OTAR"}
synonym: "IDDHBA" RELATED ABBREVIATION [OMIM:618748]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618748]
xref: MEDGEN:1684709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618748 {source="MONDO:equivalentTo"}
xref: UMLS:C5231489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684709"}
is_a: MONDO:0003847 {source="OMIM:618748"} ! hereditary disease

[Term]
id: MONDO:0032898
name: spermatogenic failure 43
subset: gard_rare {source="GARD:18414", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPERMATOGENIC FAILURE 43" RELATED [OMIM:618751]
synonym: "SPGF43" RELATED ABBREVIATION [OMIM:618751]
xref: DOID:0111917 {source="MONDO:equivalentTo"}
xref: GARD:18414 {source="MONDO:GARD"}
xref: MEDGEN:1684830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618751 {source="MONDO:equivalentTo"}
xref: UMLS:C5231490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684830"}
is_a: MONDO:0003847 {source="OMIM:618751"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:618751"} ! spermatogenic failure

[Term]
id: MONDO:0032899
name: neutropenia, severe congenital, 8, autosomal dominant
subset: gard_rare {source="GARD:16375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT" RELATED [OMIM:618752]
synonym: "Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities" RELATED [OMIM:618752]
synonym: "SCN8" RELATED ABBREVIATION [OMIM:618752]
synonym: "Shwachman-Diamond Syndrome-Like" RELATED [OMIM:618752]
xref: DOID:0112135 {source="MONDO:equivalentTo"}
xref: GARD:16375 {source="MONDO:GARD"}
xref: MEDGEN:1684816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618752 {source="MONDO:equivalentTo"}
xref: UMLS:C5203411 {source="MEDGEN:1684816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618752"} ! hereditary disease
is_a: MONDO:0018542 {source="OMIM:618752"} ! severe congenital neutropenia

[Term]
id: MONDO:0032900
name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
subset: otar {source="MONDO:OTAR"}
synonym: "NEDHAHM" RELATED ABBREVIATION [OMIM:618760]
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS" RELATED [OMIM:618760]
xref: MEDGEN:1684874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618760 {source="MONDO:equivalentTo"}
xref: UMLS:C5231491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684874"}
is_a: MONDO:0003847 {source="OMIM:618760"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032901
name: Catifa syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "CATIFA" RELATED ABBREVIATION [OMIM:618761]
synonym: "CATIFA SYNDROME" RELATED [OMIM:618761]
synonym: "Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder" RELATED [OMIM:618761]
xref: MEDGEN:1684686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618761 {source="MONDO:equivalentTo"}
xref: UMLS:C5231492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684686"}
is_a: MONDO:0003847 {source="OMIM:618761"} ! hereditary disease

[Term]
id: MONDO:0032902
name: Joubert syndrome 36
subset: gard_rare {source="GARD:16376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JBTS36" RELATED ABBREVIATION [OMIM:618763]
synonym: "JOUBERT SYNDROME 36" RELATED [OMIM:618763]
xref: GARD:16376 {source="MONDO:GARD"}
xref: MEDGEN:1684786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618763 {source="MONDO:equivalentTo"}
xref: UMLS:C5231493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684786"}
is_a: MONDO:0003847 {source="OMIM:618763"} ! hereditary disease
is_a: MONDO:0018772 {source="OMIM:618763"} ! Joubert syndrome

[Term]
id: MONDO:0032903
name: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMCNACC" EXACT ABBREVIATION [OMIM:618766]
synonym: "arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum" EXACT [OMIM:618766]
synonym: "Zain Syndrome" RELATED [OMIM:618766]
xref: DOID:0080980 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618766 {source="MONDO:equivalentTo"}
xref: UMLS:C5231494 {source="MEDGEN:1684706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618766"} ! hereditary disease
is_a: MONDO:0015168 {source="OMIM:618766"} ! arthrogryposis multiplex congenita
intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19286 ! SCYL2

[Term]
id: MONDO:0032904
name: corneal dystrophy, Meesmann, 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CORNEAL DYSTROPHY, MEESMANN, 2" RELATED [OMIM:618767]
synonym: "MECD2" RELATED ABBREVIATION [OMIM:618767]
synonym: "meesmann corneal dystrophy 2" EXACT [OMIM:618767, OMIM:genemap2]
xref: DOID:0080671 {source="MONDO:equivalentTo"}
xref: MEDGEN:1684798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618767 {source="MONDO:equivalentTo"}
xref: Orphanet:98954
xref: UMLS:C5231495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684798"}
is_a: MONDO:0003847 {source="OMIM:618767"} ! hereditary disease
is_a: MONDO:0007379 {source="OMIM:618767"} ! Meesmann corneal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032905
name: spastic paraplegia 81, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE" RELATED [OMIM:618768]
synonym: "SPG81" RELATED ABBREVIATION [OMIM:618768]
xref: MEDGEN:1711668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618768 {source="MONDO:equivalentTo"}
xref: UMLS:C5394033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711668"}
is_a: MONDO:0003847 {source="OMIM:618768"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:618768"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0032906
name: spastic paraplegia 82, autosomal recessive
def: "Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene." [MONDO:patterns/hereditary, PMID:31637422]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631073"}
subset: orphanet_rare {source="Orphanet:631073"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia type 82" EXACT [MONDO:0858987]
synonym: "spastic paraplegia 82, autosomal recessive" EXACT [OMIM:618770]
synonym: "SPG82" EXACT ABBREVIATION [OMIM:618770]
xref: DOID:0112343 {source="MONDO:equivalentTo"}
xref: MEDGEN:1710411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618770 {source="MONDO:equivalentTo"}
xref: Orphanet:631073 {source="MONDO:equivalentTo"}
xref: UMLS:C5394037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710411"}
is_a: MONDO:0003847 {source="OMIM:618770"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:618770"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7469" xsd:anyURI

[Term]
id: MONDO:0032907
name: lymphatic malformation 8
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LMPHM8" RELATED ABBREVIATION [OMIM:618773]
synonym: "LYMPHATIC MALFORMATION 8" RELATED [OMIM:618773]
xref: MEDGEN:1684767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618773 {source="MONDO:equivalentTo"}
xref: UMLS:C5231496 {source="MEDGEN:1684767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618773"} ! hereditary disease
is_a: MONDO:0019313 {source="OMIM:618773"} ! lymphatic malformation

[Term]
id: MONDO:0032908
name: CEBALID syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "CEBALID" RELATED ABBREVIATION [OMIM:618774]
synonym: "CEBALID SYNDROME" RELATED [OMIM:618774]
synonym: "Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development" RELATED [OMIM:618774]
synonym: "MCTT" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/mn1-c-terminal-truncation-syndrome/]
synonym: "MN1 C-Terminal Truncation Syndrome" EXACT []
synonym: "MN1 C-terminal truncation syndrome" EXACT [https://rarediseases.org/rare-diseases/mn1-c-terminal-truncation-syndrome/]
xref: MEDGEN:1710973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618774 {source="MONDO:equivalentTo"}
xref: UMLS:C5394044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710973"}
is_a: MONDO:0003847 {source="OMIM:618774"} ! hereditary disease

[Term]
id: MONDO:0032909
name: mitochondrial complex 3 deficiency, nuclear type 10
subset: gard_rare {source="GARD:16377", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC3DN10" RELATED ABBREVIATION [OMIM:618775]
synonym: "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10" RELATED [OMIM:618775]
xref: GARD:16377 {source="MONDO:GARD"}
xref: MEDGEN:1719382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618775 {source="MONDO:equivalentTo"}
xref: UMLS:C5394051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1719382"}
is_a: MONDO:0003847 {source="OMIM:618775"} ! hereditary disease
is_a: MONDO:0020811 {source="OMIM:618775"} ! mitochondrial complex III deficiency, nuclear type

[Term]
id: MONDO:0032910
name: mitochondrial complex 1 deficiency, nuclear type 34
subset: gard_rare {source="GARD:16378", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC1DN34" RELATED ABBREVIATION [OMIM:618776]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34" RELATED [OMIM:618776]
xref: DOID:0112091 {source="MONDO:equivalentTo"}
xref: GARD:16378 {source="MONDO:GARD"}
xref: MEDGEN:1720533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618776 {source="MONDO:equivalentTo"}
xref: UMLS:C5394053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720533"}
is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease
is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33551 ! NDUFAF8

[Term]
id: MONDO:0032911
name: hearing loss, autosomal dominant 75
subset: gard_rare {source="GARD:18153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 75" NARROW [OMIM:618778]
synonym: "deafness, autosomal dominant 75" NARROW [OMIM:618778, OMIM:genemap2]
synonym: "DFNA75" NARROW ABBREVIATION [OMIM:618778]
xref: DOID:0112166 {source="MONDO:equivalentTo"}
xref: GARD:18153 {source="MONDO:GARD"}
xref: MEDGEN:1713569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618778 {source="MONDO:equivalentTo"}
xref: UMLS:C5394059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713569"}
is_a: MONDO:0003847 {source="OMIM:618778"} ! hereditary disease
is_a: MONDO:0019587 {source="OMIM:618778"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032912
name: Coffin-Siris syndrome 11
subset: gard_rare {source="GARD:16379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COFFIN-SIRIS SYNDROME 11" RELATED [OMIM:618779]
synonym: "CSS11" RELATED ABBREVIATION [OMIM:618779]
xref: DOID:0112372 {source="MONDO:equivalentTo"}
xref: GARD:16379 {source="MONDO:GARD"}
xref: MEDGEN:1717402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618779 {source="MONDO:equivalentTo"}
xref: UMLS:C5241442 {source="MEDGEN:1717402", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618779"} ! hereditary disease
is_a: MONDO:0015452 {source="OMIM:618779"} ! Coffin-Siris syndrome

[Term]
id: MONDO:0032913
name: congenital heart defects, multiple types, 7
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "CHTD7" RELATED ABBREVIATION [OMIM:618780]
synonym: "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7" RELATED [OMIM:618780]
xref: MEDGEN:1714491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618780 {source="MONDO:equivalentTo"}
xref: UMLS:C5394062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714491"}
is_a: MONDO:0003847 {source="OMIM:618780"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0032914
name: ciliary dyskinesia, primary, 44
subset: gard_rare {source="GARD:16380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CILD44" RELATED ABBREVIATION [OMIM:618781]
synonym: "CILIARY DYSKINESIA, PRIMARY, 44" RELATED [OMIM:618781]
synonym: "Ciliary Dyskinesia, Primary, 44, Without Situs Inversus" RELATED [OMIM:618781]
xref: DOID:0111851 {source="MONDO:equivalentTo"}
xref: GARD:16380 {source="MONDO:GARD"}
xref: MEDGEN:1716408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618781 {source="MONDO:equivalentTo"}
xref: UMLS:C5394063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716408"}
is_a: MONDO:0003847 {source="OMIM:618781"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:618781"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0032915
name: long QT syndrome 16
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "long QT syndrome 16" EXACT CLINGEN_LABEL [OMIM:618782]
synonym: "LQT16" RELATED ABBREVIATION [OMIM:618782]
synonym: "Ventricular Tachycardia, Catecholaminergic Polymorphic 6" RELATED [OMIM:618782]
xref: DOID:0070533 {source="MONDO:equivalentTo"}
xref: MEDGEN:1713991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618782 {source="MONDO:equivalentTo"}
xref: UMLS:C5394068 {source="MEDGEN:1713991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618782"} ! hereditary disease
is_a: MONDO:0017990 {source="OMIM:618782"} ! catecholaminergic polymorphic ventricular tachycardia
is_a: MONDO:0019171 {source="OMIM:618782"} ! familial long QT syndrome

[Term]
id: MONDO:0032916
name: Imagawa-Matsumoto syndrome
subset: gard_rare {source="GARD:16381", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:659463"}
subset: orphanet_rare {source="Orphanet:659463"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMAGAWA-MATSUMOTO SYNDROME" RELATED [OMIM:618786]
synonym: "IMMAS" RELATED ABBREVIATION [OMIM:618786]
xref: GARD:16381 {source="MONDO:GARD"}
xref: MEDGEN:1711007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618786 {source="MONDO:equivalentTo"}
xref: Orphanet:659463 {source="MONDO:equivalentTo"}
xref: UMLS:C5394073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711007"}
is_a: MONDO:0003847 {source="OMIM:618786"} ! hereditary disease

[Term]
id: MONDO:0032917
name: hearing loss, autosomal dominant 76
subset: gard_rare {source="GARD:18154", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 76" NARROW [OMIM:618787]
synonym: "deafness, autosomal dominant 76" NARROW [OMIM:618787, OMIM:genemap2]
synonym: "DFNA76" NARROW ABBREVIATION [OMIM:618787]
xref: DOID:0112167 {source="MONDO:equivalentTo"}
xref: GARD:18154 {source="MONDO:GARD"}
xref: MEDGEN:1710038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618787 {source="MONDO:equivalentTo"}
xref: UMLS:C5394080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710038"}
is_a: MONDO:0003847 {source="OMIM:618787"} ! hereditary disease
is_a: MONDO:0019587 {source="OMIM:618787"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0032918
name: developmental and epileptic encephalopathy, 84
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:102487"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE84" EXACT ABBREVIATION [OMIM:618792]
synonym: "developmental and epileptic encephalopathy 84" EXACT [OMIM:618792, OMIM:genemap2]
synonym: "EIEE84" EXACT ABBREVIATION [OMIM:618792]
synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84" EXACT [OMIM:618792]
synonym: "epileptic encephalopathy, early infantile, 84" EXACT [OMIM:618792]
synonym: "Jamuar Syndrome" RELATED [OMIM:618792]
synonym: "UGDH-Related Disorder" EXACT [NORD:102487]
xref: DOID:0112219 {source="MONDO:equivalentTo"}
xref: MEDGEN:1720141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:102487 {source="MONDO:NORD"}
xref: OMIM:618792 {source="MONDO:equivalentTo"}
xref: UMLS:C5394081 {source="MEDGEN:1720141", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618792"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:618792"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032919
name: intellectual developmental disorder 62
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 62" RELATED [OMIM:618793]
synonym: "Mental Retardation, Autosomal Dominant 62" RELATED [OMIM:618793]
synonym: "MRD62" RELATED ABBREVIATION [OMIM:618793]
xref: MEDGEN:1712636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618793 {source="MONDO:equivalentTo"}
xref: UMLS:C5394083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712636"}
is_a: MONDO:0003847 {source="OMIM:618793"} ! hereditary disease
is_a: MONDO:0015802 {source="OMIM:618793"} ! autosomal dominant non-syndromic intellectual disability

[Term]
id: MONDO:0032920
name: juvenile arthritis due to defect in LACC1
subset: gard_rare {source="GARD:16382", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JUVAR" RELATED ABBREVIATION [OMIM:618795]
synonym: "JUVENILE ARTHRITIS" RELATED [OMIM:618795]
xref: GARD:16382 {source="MONDO:GARD"}
xref: OMIM:618795 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618795"} ! hereditary disease

[Term]
id: MONDO:0032921
name: neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
subset: otar {source="MONDO:OTAR"}
synonym: "NEDHRIT" RELATED ABBREVIATION [OMIM:618797]
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION" RELATED [OMIM:618797]
xref: MEDGEN:1716098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618797 {source="MONDO:equivalentTo"}
xref: UMLS:C5394091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716098"}
is_a: MONDO:0003847 {source="OMIM:618797"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0032922
name: Beck-Fahrner syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "BECK-FAHRNER SYNDROME" RELATED [OMIM:618798]
synonym: "BEFAHRS" RELATED ABBREVIATION [OMIM:618798]
xref: MEDGEN:1711894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618798 {source="MONDO:equivalentTo"}
xref: UMLS:C5394097 {source="MONDO:equivalentTo", source="MEDGEN:1711894", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618798"} ! hereditary disease

[Term]
id: MONDO:0032923
name: spinocerebellar ataxia, autosomal recessive 28
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCAR28" RELATED ABBREVIATION [OMIM:618800]
synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28" RELATED [OMIM:618800]
xref: DOID:0070409 {source="MONDO:equivalentTo"}
xref: MEDGEN:1712568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618800 {source="MONDO:equivalentTo"}
xref: UMLS:C5394101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712568"}
is_a: MONDO:0003847 {source="OMIM:618800"} ! hereditary disease
is_a: MONDO:0015244 {source="OMIM:618800"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0032924
name: ciliary dyskinesia, primary, 45
subset: gard_rare {source="GARD:16383", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CILD45" RELATED ABBREVIATION [OMIM:618801]
synonym: "CILIARY DYSKINESIA, PRIMARY, 45" RELATED [OMIM:618801]
synonym: "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus" RELATED [OMIM:618801]
xref: DOID:0111857 {source="MONDO:equivalentTo"}
xref: GARD:16383 {source="MONDO:GARD"}
xref: MEDGEN:1714988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618801 {source="MONDO:equivalentTo"}
xref: UMLS:C5394104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714988"}
is_a: MONDO:0003847 {source="OMIM:618801"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:618801"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0032925
name: respiratory papillomatosis, juvenile recurrent, congenital
subset: otar {source="MONDO:OTAR"}
synonym: "JRRP" RELATED ABBREVIATION [OMIM:618803]
synonym: "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL" RELATED [OMIM:618803]
xref: MEDGEN:1719353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618803 {source="MONDO:equivalentTo"}
xref: UMLS:C5394112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1719353"}
is_a: MONDO:0003847 {source="OMIM:618803"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0032926
name: sandestig-stefanova syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "SANDESTIG-STEFANOVA SYNDROME" RELATED [OMIM:618804]
synonym: "SANDSTEF" RELATED ABBREVIATION [OMIM:618804]
xref: DOID:0081272 {source="MONDO:equivalentTo"}
xref: MEDGEN:1718072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618804 {source="MONDO:equivalentTo"}
xref: UMLS:C5394118 {source="MEDGEN:1718072", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618804"} ! hereditary disease

[Term]
id: MONDO:0032927
name: triokinase and FMN cyclase deficiency syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "TKFCD" RELATED ABBREVIATION [OMIM:618805]
synonym: "TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME" RELATED [OMIM:618805]
xref: MEDGEN:1710207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618805 {source="MONDO:equivalentTo"}
xref: UMLS:C5394125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710207"}
is_a: MONDO:0003847 {source="OMIM:618805"} ! hereditary disease

[Term]
id: MONDO:0032928
name: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
subset: otar {source="MONDO:OTAR"}
synonym: "T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT" RELATED [OMIM:618806]
synonym: "TLIND" RELATED ABBREVIATION [OMIM:618806]
xref: MEDGEN:1712366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618806 {source="MONDO:equivalentTo"}
xref: UMLS:C5394133 {source="MEDGEN:1712366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618806"} ! hereditary disease

[Term]
id: MONDO:0032930
name: intellectual developmental disorder with poor growth and with or without seizures or ataxia
subset: otar {source="MONDO:OTAR"}
synonym: "IDPOGSA" RELATED ABBREVIATION [OMIM:618808]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA" RELATED [OMIM:618808]
xref: MEDGEN:1711370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618808 {source="MONDO:equivalentTo"}
xref: UMLS:C5394135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711370"}
is_a: MONDO:0003847 {source="OMIM:618808"} ! hereditary disease

[Term]
id: MONDO:0032931
name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
subset: gard_rare {source="GARD:18034", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:615954"}
subset: orphanet_rare {source="Orphanet:615954"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive" RELATED [OMIM:618810]
synonym: "fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome" EXACT [Orphanet:615954]
synonym: "fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome" EXACT [Orphanet:615954]
synonym: "PHRINL" RELATED ABBREVIATION [OMIM:618810]
synonym: "Phrinl Syndrome" RELATED [OMIM:618810]
synonym: "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL" RELATED [OMIM:618810]
xref: DOID:0081396 {source="MONDO:equivalentTo"}
xref: GARD:18034 {source="MONDO:GARD"}
xref: MEDGEN:1716458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618810 {source="MONDO:equivalentTo"}
xref: Orphanet:615954 {source="MONDO:equivalentTo"}
xref: UMLS:C5394137 {source="MEDGEN:1716458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618810"} ! hereditary disease

[Term]
id: MONDO:0032932
name: mitochondrial DNA depletion syndrome 18
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 18" RELATED [OMIM:618811]
synonym: "MTDPS18" RELATED ABBREVIATION [OMIM:618811]
xref: DOID:0070449 {source="MONDO:equivalentTo"}
xref: MEDGEN:1713890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618811 {source="MONDO:equivalentTo"}
xref: UMLS:C5394140 {source="MEDGEN:1713890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618811"} ! hereditary disease
is_a: MONDO:0018158 {source="OMIM:618811"} ! mitochondrial DNA depletion syndrome

[Term]
id: MONDO:0032933
name: chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:656279"}
subset: orphanet_rare {source="Orphanet:656279"}
subset: rare
synonym: "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT" RELATED [OMIM:618815]
xref: DOID:0070470 {source="MONDO:equivalentTo"}
xref: MEDGEN:1708515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618815 {source="MONDO:equivalentTo"}
xref: Orphanet:656279 {source="MONDO:equivalentTo"}
xref: UMLS:C5394150 {source="MEDGEN:1708515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618815"} ! hereditary disease
is_a: MONDO:0017012 {source="Orphanet:656279", source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of the short arm of chromosome 1

[Term]
id: MONDO:0032934
name: genitourinary and/or brain malformation syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME" RELATED [OMIM:618820]
synonym: "genitourinary and/or brain malformation syndrome" EXACT CLINGEN_LABEL []
synonym: "genitourinary and/or/brain malformation syndrome" EXACT [OMIM:618820, OMIM:genemap2]
synonym: "GUB syndrome" EXACT [PMID:34499436]
synonym: "GUBS" RELATED ABBREVIATION [OMIM:618820]
synonym: "UBM syndrome" EXACT [PMID:34499436]
synonym: "UBMS" EXACT ABBREVIATION [PMID:34499436]
synonym: "Urogenital and/or brain malformation syndrome" EXACT [PMID:34499436]
xref: MEDGEN:1720440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618820 {source="MONDO:equivalentTo"}
xref: UMLS:C5394158 {source="MEDGEN:1720440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618820"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7762" xsd:anyURI

[Term]
id: MONDO:0032935
name: rhizomelic limb shortening with dysmorphic features
subset: otar {source="MONDO:OTAR"}
synonym: "RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES" RELATED [OMIM:618821]
synonym: "RLSDF" RELATED ABBREVIATION [OMIM:618821]
xref: MEDGEN:1720321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618821 {source="MONDO:equivalentTo"}
xref: UMLS:C5394173 {source="MEDGEN:1720321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618821"} ! hereditary disease

[Term]
id: MONDO:0032936
name: myopathy, congenital, with respiratory insufficiency and bone fractures
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES" RELATED [OMIM:618822]
synonym: "MYORIBF" RELATED ABBREVIATION [OMIM:618822]
xref: DOID:0081343 {source="MONDO:equivalentTo"}
xref: MEDGEN:1718097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618822 {source="MONDO:equivalentTo"}
xref: UMLS:C5394189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718097"}
is_a: MONDO:0003847 {source="OMIM:618822"} ! hereditary disease
is_a: MONDO:0019952 {source="OMIM:618822"} ! congenital myopathy

[Term]
id: MONDO:0032937
name: myopathy, congenital proximal, with minicore lesions
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS" RELATED [OMIM:618823]
synonym: "MYOPMIL" RELATED ABBREVIATION [OMIM:618823]
xref: DOID:0081344 {source="MONDO:equivalentTo"}
xref: MEDGEN:1717569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618823 {source="MONDO:equivalentTo"}
xref: UMLS:C5394193 {source="MEDGEN:1717569", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618823"} ! hereditary disease
is_a: MONDO:0019952 {source="OMIM:618823"} ! congenital myopathy

[Term]
id: MONDO:0032938
name: basal ganglia calcification, idiopathic, 8, autosomal recessive
subset: gard_rare {source="GARD:16384", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE" RELATED [OMIM:618824]
synonym: "IBGC8" RELATED ABBREVIATION [OMIM:618824]
xref: GARD:16384 {source="MONDO:GARD"}
xref: MEDGEN:1713414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618824 {source="MONDO:equivalentTo"}
xref: UMLS:C5394199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713414"}
is_a: MONDO:0003847 {source="OMIM:618824"} ! hereditary disease
is_a: MONDO:0008947 {source="OMIM:618824"} ! bilateral striopallidodentate calcinosis
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0032939
name: intellectual developmental disorder, autosomal dominant 63, with macrocephaly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY" RELATED [OMIM:618825]
synonym: "Mental Retardation, Autosomal Dominant 63, With Macrocephaly" RELATED [OMIM:618825]
synonym: "MRD63" RELATED ABBREVIATION [OMIM:618825]
xref: MEDGEN:1716581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618825 {source="MONDO:equivalentTo"}
xref: UMLS:C5394205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716581"}
is_a: MONDO:0003847 {source="OMIM:618825"} ! hereditary disease
is_a: MONDO:0015802 {source="OMIM:618825"} ! autosomal dominant non-syndromic intellectual disability

[Term]
id: MONDO:0032940
name: retinitis pigmentosa 88
subset: gard_rare {source="GARD:16385", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RETINITIS PIGMENTOSA 88" RELATED [OMIM:618826]
synonym: "RP88" RELATED ABBREVIATION [OMIM:618826]
xref: DOID:0112145 {source="MONDO:equivalentTo"}
xref: GARD:16385 {source="MONDO:GARD"}
xref: MEDGEN:1720448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618826 {source="MONDO:equivalentTo"}
xref: UMLS:C5394208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720448"}
is_a: MONDO:0003847 {source="OMIM:618826"} ! hereditary disease
is_a: MONDO:0019200 {source="OMIM:618826"} ! retinitis pigmentosa

[Term]
id: MONDO:0032941
name: myopia 27
subset: otar {source="MONDO:OTAR"}
synonym: "MYOPIA 27" RELATED [OMIM:618827]
synonym: "MYP27" RELATED ABBREVIATION [OMIM:618827]
xref: MEDGEN:1719756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618827 {source="MONDO:equivalentTo"}
xref: UMLS:C5394215 {source="MEDGEN:1719756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001384 {source="OMIM:618827"} ! myopia
is_a: MONDO:0003847 {source="OMIM:618827"} ! hereditary disease

[Term]
id: MONDO:0032942
name: neurodevelopmental disorder with microcephaly and dysmorphic facies
subset: otar {source="MONDO:OTAR"}
synonym: "nabais sa-de vries syndrome, type 1" EXACT [OMIM:618828, OMIM:genemap2]
synonym: "NEDMIDF" RELATED ABBREVIATION [OMIM:618828]
synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES" RELATED [OMIM:618828]
xref: MEDGEN:1719418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618828 {source="MONDO:equivalentTo"}
xref: UMLS:C5394218 {source="MONDO:equivalentTo", source="MEDGEN:1719418", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618828"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0032943
name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
subset: otar {source="MONDO:OTAR"}
synonym: "nabais sa-de vries syndrome, type 2" EXACT [OMIM:618829, OMIM:genemap2]
synonym: "NEDMACE" RELATED ABBREVIATION [OMIM:618829]
synonym: "NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES" RELATED [OMIM:618829]
xref: MEDGEN:1714169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618829 {source="MONDO:equivalentTo"}
xref: UMLS:C5394221 {source="MEDGEN:1714169", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:618829"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033004
name: polycystic kidney disease 4
def: "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene." [DOID:0080212]
subset: gard_rare {source="GARD:6168", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hepatic fibrosis, congenital" RELATED [OMIM:263200]
synonym: "PKD3" RELATED DEPRECATED [OMIM:263200]
synonym: "PKD3, formerly" RELATED [OMIM:263200]
synonym: "PKD4" RELATED ABBREVIATION [OMIM:263200]
synonym: "polycystic kidney and hepatic disease 1" RELATED [OMIM:263200]
synonym: "polycystic kidney disease 4" EXACT [DOID:0080212]
synonym: "polycystic kidney disease 4 with or without hepatic disease" RELATED [OMIM:263200]
synonym: "polycystic kidney disease 4 with or without polycystic liver disease" RELATED [OMIM:263200]
synonym: "polycystic kidney disease 4, with or without hepatic disease" EXACT [OMIM:263200, OMIM:genemap2]
synonym: "polycystic kidney disease, autosomal recessive" RELATED [OMIM:263200]
synonym: "polycystic kidney disease, infantile, type 1" RELATED [OMIM:263200]
xref: DOID:0080212 {source="MONDO:equivalentTo"}
xref: GARD:6168 {source="MONDO:GARD"}
xref: MEDGEN:1621793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:263200 {source="MONDO:equivalentTo", source="DOID:0080212"}
xref: Orphanet:731 {source="MONDO:relatedTo", source="OMIM:263200"}
xref: UMLS:C4540575 {source="MONDO:equivalentTo", source="MEDGEN:1621793", source="MONDO:MEDGEN"}
is_a: MONDO:0020642 {source="OMIM:263200"} ! polycystic kidney disease
intersection_of: MONDO:0020642 ! polycystic kidney disease
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9016 ! PKHD1
relationship: excluded_subClassOf MONDO:0004691 {source="DOID:0080212", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant polycystic kidney disease
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9016 {source="MONDO:mim2gene_medgen"} ! PKHD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033005
name: Galloway-Mowat syndrome 1
subset: gard_rare {source="GARD:15199", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [OMIM:251300]
synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED DEPRECATED [OMIM:251300]
synonym: "Galloway syndrome" RELATED [OMIM:251300]
synonym: "Galloway-Mowat syndrome 1" EXACT [OMIM:251300]
synonym: "GAMOS1" RELATED ABBREVIATION [OMIM:251300]
synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [OMIM:251300]
synonym: "nephrosis-microcephaly syndrome" RELATED [OMIM:251300]
synonym: "nephrosis-neuronal dysmigration syndrome" RELATED [OMIM:251300]
synonym: "spinocerebellar ataxia, autosomal recessive 5" RELATED [OMIM:251300]
synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300]
xref: DOID:0060364 {source="MONDO:equivalentTo"}
xref: GARD:15199 {source="MONDO:GARD"}
xref: MEDGEN:1634188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:251300 {source="MONDO:equivalentTo"}
xref: Orphanet:2065 {source="OMIM:251300"}
xref: UMLS:C4551772 {source="MEDGEN:1634188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009627 {source="OMIM:251300"} ! Galloway-Mowat syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:251300"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0033006
name: Galloway-Mowat syndrome 2, X-linked
subset: gard_rare {source="GARD:15281", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Galloway-Mowat syndrome 2" RELATED [DOID:0080244]
synonym: "Galloway-Mowat syndrome 2, X-linked" EXACT [OMIM:301006]
synonym: "Galloway-Mowat syndrome 2, X-linked, X-linked recessive" EXACT [OMIM:301006, OMIM:genemap2]
synonym: "GAMOS2" RELATED ABBREVIATION [OMIM:301006]
xref: DOID:0080244 {source="MONDO:equivalentTo"}
xref: GARD:15281 {source="MONDO:GARD"}
xref: MEDGEN:1625619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301006 {source="DOID:0080244", source="MONDO:equivalentTo"}
xref: Orphanet:2065 {source="OMIM:301006"}
xref: UMLS:C4538784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625619"}
is_a: MONDO:0009627 {source="DOID:0080244", source="OMIM:301006"} ! Galloway-Mowat syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033007
name: Galloway-Mowat syndrome 3
subset: gard_rare {source="GARD:16247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Galloway-Mowat syndrome 3" EXACT [OMIM:617729]
synonym: "GAMOS3" RELATED ABBREVIATION [OMIM:617729]
xref: DOID:0080245 {source="MONDO:equivalentTo"}
xref: GARD:16247 {source="MONDO:GARD"}
xref: MEDGEN:1627611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617729 {source="MONDO:equivalentTo", source="DOID:0080245"}
xref: Orphanet:2065 {source="OMIM:617729"}
xref: UMLS:C4540266 {source="MEDGEN:1627611", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009627 {source="DOID:0080245", source="OMIM:617729"} ! Galloway-Mowat syndrome

[Term]
id: MONDO:0033008
name: Galloway-Mowat syndrome 4
subset: gard_rare {source="GARD:16248", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Galloway-Mowat syndrome 4" EXACT [OMIM:617730]
synonym: "GAMOS4" RELATED ABBREVIATION [OMIM:617730]
xref: DOID:0080246 {source="MONDO:equivalentTo"}
xref: GARD:16248 {source="MONDO:GARD"}
xref: MEDGEN:1613511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617730 {source="DOID:0080246", source="MONDO:equivalentTo"}
xref: Orphanet:2065 {source="OMIM:617730"}
xref: UMLS:C4540270 {source="MEDGEN:1613511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009627 {source="DOID:0080246", source="OMIM:617730"} ! Galloway-Mowat syndrome

[Term]
id: MONDO:0033009
name: Galloway-Mowat syndrome 5
subset: gard_rare {source="GARD:16249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Galloway-Mowat syndrome 5" EXACT [OMIM:617731]
synonym: "GAMOS5" RELATED ABBREVIATION [OMIM:617731]
xref: DOID:0080247 {source="MONDO:equivalentTo"}
xref: GARD:16249 {source="MONDO:GARD"}
xref: MEDGEN:1617227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617731 {source="MONDO:equivalentTo", source="DOID:0080247"}
xref: Orphanet:2065 {source="OMIM:617731"}
xref: UMLS:C4540274 {source="MEDGEN:1617227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009627 {source="DOID:0080247", source="OMIM:617731"} ! Galloway-Mowat syndrome

[Term]
id: MONDO:0033010
name: erythrokeratodermia variabilis et progressiva 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EKVP1" RELATED ABBREVIATION [OMIM:133200]
synonym: "erythrokeratodermia Figurata, congenital familial, in plaques" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis Et progressiva" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis ET progressiva 1" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [OMIM:133200]
synonym: "erythrokeratodermia, progressive symmetric" RELATED [OMIM:133200]
synonym: "Greither disease" RELATED [OMIM:133200]
synonym: "keratosis palmoplantaris transgrediens Et progrediens" RELATED [OMIM:133200]
xref: DOID:0111195 {source="MONDO:equivalentTo"}
xref: MEDGEN:1633225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:133200 {source="MONDO:equivalentTo"}
xref: Orphanet:316 {source="OMIM:133200"}
xref: Orphanet:317 {source="OMIM:133200"}
xref: Orphanet:495 {source="OMIM:133200", source="MONDO:directSiblingOf"}
xref: UMLS:C4551486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633225"}
is_a: MONDO:0017851 {source="OMIM:133200"} ! erythrokeratodermia variabilis

[Term]
id: MONDO:0033012
name: erythrokeratodermia variabilis et progressiva 2
subset: gard_rare {source="GARD:18588", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EKVP2" RELATED ABBREVIATION [OMIM:617524]
synonym: "erythrokeratodermia variabilis ET progressiva 2" RELATED [OMIM:617524]
xref: DOID:0080248 {source="MONDO:equivalentTo"}
xref: GARD:18588 {source="MONDO:GARD"}
xref: MEDGEN:1379712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617524 {source="MONDO:equivalentTo", source="DOID:0080248"}
xref: Orphanet:317 {source="OMIM:617524"}
xref: UMLS:C4479618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379712"}
is_a: MONDO:0017851 {source="DOID:0080248", source="OMIM:617524"} ! erythrokeratodermia variabilis

[Term]
id: MONDO:0033013
name: erythrokeratodermia variabilis et progressiva 3
subset: gard_rare {source="GARD:18589", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EKVP3" RELATED ABBREVIATION [OMIM:617525]
synonym: "erythrokeratodermia variabilis ET progressiva 3" RELATED [OMIM:617525]
xref: DOID:0080249 {source="MONDO:equivalentTo"}
xref: GARD:18589 {source="MONDO:GARD"}
xref: MEDGEN:1380593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617525 {source="MONDO:equivalentTo", source="DOID:0080249"}
xref: Orphanet:317 {source="OMIM:617525"}
xref: UMLS:C4479619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1380593"}
is_a: MONDO:0017851 {source="DOID:0080249", source="OMIM:617525"} ! erythrokeratodermia variabilis

[Term]
id: MONDO:0033014
name: erythrokeratodermia variabilis et progressiva 4
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18590", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EKVP4" RELATED ABBREVIATION [OMIM:617526]
synonym: "erythrokeratodermia variabilis ET progressiva 4" RELATED [OMIM:617526]
synonym: "erythrokeratodermia variabilis et progressiva 4" EXACT CLINGEN_LABEL []
xref: DOID:0080250 {source="MONDO:equivalentTo"}
xref: GARD:18590 {source="MONDO:GARD"}
xref: MEDGEN:1372799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617526 {source="DOID:0080250", source="MONDO:equivalentTo"}
xref: Orphanet:317 {source="OMIM:617526"}
xref: UMLS:C4479620 {source="MEDGEN:1372799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017851 {source="DOID:0080250", source="OMIM:617526"} ! erythrokeratodermia variabilis

[Term]
id: MONDO:0033015
name: erythrokeratodermia variabilis et progressiva 5
subset: gard_rare {source="GARD:18669", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EKVP5" RELATED ABBREVIATION [OMIM:617756]
synonym: "erythrokeratodermia variabilis ET progressiva 5" RELATED [OMIM:617756]
xref: DOID:0080251 {source="MONDO:equivalentTo"}
xref: GARD:18669 {source="MONDO:GARD"}
xref: MEDGEN:1626376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617756 {source="MONDO:equivalentTo"}
xref: Orphanet:316 {source="OMIM:617756"}
xref: UMLS:C4540331 {source="MEDGEN:1626376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017851 {source="DOID:0080251", source="OMIM:617756"} ! erythrokeratodermia variabilis

[Term]
id: MONDO:0033043
name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
subset: gard_rare {source="GARD:17964", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:527497"}
subset: orphanet_rare {source="Orphanet:527497"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spastic ataxia 8" RELATED [DOID:0080252]
synonym: "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" EXACT [OMIM:617560]
synonym: "SPAX8" RELATED ABBREVIATION [OMIM:617560]
xref: DOID:0080252 {source="MONDO:equivalentTo"}
xref: GARD:17964 {source="MONDO:GARD"}
xref: MEDGEN:1382553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617560 {source="DOID:0080252", source="MONDO:equivalentTo", source="Orphanet:527497"}
xref: Orphanet:527497 {source="MONDO:equivalentTo"}
xref: UMLS:C4479653 {source="MEDGEN:1382553", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017845 {source="DOID:0080252", source="OMIM:617560"} ! spastic ataxia
is_a: MONDO:0017847 {source="Orphanet:527497"} ! autosomal recessive spastic ataxia
is_a: MONDO:0019046 {source="Orphanet:527497"} ! leukodystrophy
relationship: has_characteristic HP:0000007 {source="Orphanet:527497"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19321 {source="Orphanet:527497"} ! NKX6-2

[Term]
id: MONDO:0033044
name: Meckel syndrome 13
subset: gard_rare {source="GARD:16236", source="MONDO:GARD"}
subset: rare
synonym: "Meckel syndrome 13" EXACT [OMIM:617562]
synonym: "Meckel syndrome, type 13" EXACT [https://github.com/monarch-initiative/mondo/issues/300]
synonym: "MKS13" RELATED ABBREVIATION [OMIM:617562]
xref: DOID:0080253 {source="MONDO:equivalentTo"}
xref: GARD:16236 {source="MONDO:GARD"}
xref: MEDGEN:1627793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617562 {source="DOID:0080253", source="MONDO:equivalentTo"}
xref: Orphanet:564 {source="OMIM:617562"}
xref: UMLS:C4539714 {source="MEDGEN:1627793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018921 {source="DOID:0080253", source="OMIM:617562"} ! Meckel syndrome

[Term]
id: MONDO:0033045
name: orofaciodigital syndrome 16
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OFD16" RELATED ABBREVIATION [OMIM:617563]
synonym: "Ofds 16" RELATED [OMIM:617563]
synonym: "oral-Facial-digital syndrome, type 16" RELATED [OMIM:617563]
synonym: "orofaciodigital syndrome XVI" RELATED [DOID:0080254, OMIM:617563]
xref: DOID:0080254 {source="MONDO:equivalentTo"}
xref: MEDGEN:1620071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617563 {source="DOID:0080254", source="MONDO:equivalentTo"}
xref: UMLS:C4539729 {source="MEDGEN:1620071", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015375 {source="DOID:0080254"} ! orofaciodigital syndrome

[Term]
id: MONDO:0033046
name: Meier-Gorlin syndrome 8
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Meier-Gorlin syndrome 8" EXACT [OMIM:617564]
synonym: "MGORS8" RELATED ABBREVIATION [OMIM:617564]
xref: DOID:0080255 {source="MONDO:equivalentTo"}
xref: MEDGEN:1390366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617564 {source="DOID:0080255", source="MONDO:equivalentTo"}
xref: UMLS:C4479655 {source="MEDGEN:1390366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016817 {source="DOID:0080255", source="OMIM:617564"} ! Meier-Gorlin syndrome

[Term]
id: MONDO:0033047
name: Perrault syndrome 6
subset: gard_rare {source="GARD:16237", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Perrault syndrome 6" EXACT [OMIM:617565]
synonym: "PRLTS6" RELATED ABBREVIATION [OMIM:617565]
xref: DOID:0080256 {source="MONDO:equivalentTo"}
xref: GARD:16237 {source="MONDO:GARD"}
xref: MEDGEN:1391447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617565 {source="MONDO:equivalentTo", source="DOID:0080256"}
xref: Orphanet:2855 {source="OMIM:617565"}
xref: UMLS:C4479656 {source="MONDO:equivalentTo", source="MEDGEN:1391447", source="MONDO:MEDGEN"}
is_a: MONDO:0017312 {source="DOID:0080256", source="OMIM:617565"} ! Perrault syndrome

[Term]
id: MONDO:0033056
name: obsolete genetic facial cleft
subset: ordo_group_of_disorders {source="Orphanet:414726"}
xref: GARD:21740 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:414726 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033091
name: ichthyosis, congenital, autosomal recessive 14
subset: gard_rare {source="GARD:16471", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI14" RELATED ABBREVIATION [OMIM:617571]
synonym: "autosomal recessive congenital ichthyosis 14" RELATED [DOID:0080258]
synonym: "ichthyosis, congenital, autosomal recessive 14" EXACT [OMIM:617571]
xref: DOID:0080258 {source="MONDO:equivalentTo"}
xref: GARD:16471 {source="MONDO:GARD"}
xref: MEDGEN:1620129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617571 {source="MONDO:equivalentTo", source="DOID:0080258"}
xref: Orphanet:313 {source="MONDO:relatedTo", source="OMIM:617571"}
xref: UMLS:C4539754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620129"}
is_a: MONDO:0017265 {source="DOID:0080258", source="OMIM:617571"} ! autosomal recessive congenital ichthyosis

[Term]
id: MONDO:0033092
name: ichthyosis, congenital, autosomal recessive 13
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARCI13" RELATED ABBREVIATION [OMIM:617574]
synonym: "autosomal recessive congenital ichthyosis 13" RELATED [DOID:0080257]
synonym: "ichthyosis, congenital, autosomal recessive 13" EXACT [OMIM:617574]
xref: DOID:0080257 {source="MONDO:equivalentTo"}
xref: MEDGEN:1620886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617574 {source="DOID:0080257", source="MONDO:equivalentTo"}
xref: UMLS:C4539772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620886"}
is_a: MONDO:0017265 {source="DOID:0080257", source="OMIM:617574"} ! autosomal recessive congenital ichthyosis

[Term]
id: MONDO:0033115
name: spinocerebellar ataxia, autosomal recessive 25
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive spinocerebellar ataxia 25" RELATED [DOID:0080259]
synonym: "SCAR25" RELATED ABBREVIATION [OMIM:617584]
synonym: "spinocerebellar ataxia, autosomal recessive 25" EXACT [OMIM:617584]
xref: DOID:0080259 {source="MONDO:equivalentTo"}
xref: MEDGEN:1618081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617584 {source="MONDO:equivalentTo", source="DOID:0080259"}
xref: UMLS:C4539808 {source="MONDO:equivalentTo", source="MEDGEN:1618081", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="DOID:0080259"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0033116
name: spinocerebellar ataxia, autosomal recessive 26
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive spinocerebellar ataxia 26" RELATED [DOID:0080260]
synonym: "SCAR26" RELATED ABBREVIATION [OMIM:617633]
synonym: "spinocerebellar ataxia, autosomal recessive 26" EXACT [OMIM:617633]
xref: DOID:0080260 {source="MONDO:equivalentTo"}
xref: MEDGEN:1617917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617633 {source="MONDO:equivalentTo", source="DOID:0080260"}
xref: UMLS:C4539948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617917"}
is_a: MONDO:0015244 {source="DOID:0080260"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0033123
name: exudative vitreoretinopathy 7
subset: gard_rare {source="GARD:16238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EVR7" RELATED ABBREVIATION [OMIM:617572]
synonym: "exudative vitreoretinopathy 7" EXACT [OMIM:617572]
xref: DOID:0080264 {source="MONDO:equivalentTo"}
xref: GARD:16238 {source="MONDO:GARD"}
xref: MEDGEN:1626650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617572 {source="DOID:0080264", source="MONDO:equivalentTo"}
xref: Orphanet:891 {source="OMIM:617572"}
xref: UMLS:C4539767 {source="MEDGEN:1626650", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019516 {source="DOID:0080264", source="OMIM:617572"} ! exudative vitreoretinopathy
is_a: MONDO:0100571 {source="https://clinicalgenome.org/affiliation/40006/"} ! CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7572" xsd:anyURI

[Term]
id: MONDO:0033135
name: Charcot-Marie-Tooth disease, demyelinating, type 1G
def: "A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs." [Orphanet:476394]
subset: gard_rare {source="GARD:17851", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:476394"}
subset: orphanet_rare {source="Orphanet:476394"}
subset: rare
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1G" EXACT [OMIM:618279]
synonym: "CMT1G" EXACT ABBREVIATION [OMIM:618279]
synonym: "PMP2-related Charcot-Marie-Tooth disease type 1" EXACT []
xref: DOID:0111560 {source="MONDO:equivalentTo"}
xref: GARD:17851 {source="MONDO:GARD"}
xref: MEDGEN:1648290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618279 {source="MONDO:equivalentTo", source="Orphanet:476394"}
xref: Orphanet:476394 {source="MONDO:equivalentTo", source="OMIM:618279"}
xref: UMLS:C4748940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648290"}
is_a: MONDO:0000001 {source="Orphanet:476394"} ! disease
is_a: MONDO:0015626 {source="OMIM:618279"} ! Charcot-Marie-Tooth disease
relationship: has_characteristic HP:0000006 {source="Orphanet:476394"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9117 {source="Orphanet:476394"} ! PMP2

[Term]
id: MONDO:0033169
name: curariform drugs toxicity
xref: Orphanet:413693 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! poisoning

[Term]
id: MONDO:0033170
name: statin toxicity
xref: Orphanet:413696 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! poisoning

[Term]
id: MONDO:0033181
name: phenytoin or carbamazepine toxicity
xref: Orphanet:414750 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! poisoning

[Term]
id: MONDO:0033187
name: obsolete combined oxidative phosphorylation defect type 29
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5760" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014781

[Term]
id: MONDO:0033196
name: obsolete skin/hair/eye pigmentation, variation in
xref: OMIMPS:227220 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0033198
name: hearing loss, autosomal recessive 106
subset: gard_rare {source="GARD:22656", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive nonsyndromic deafness 106" NARROW [DOID:0080261]
synonym: "deafness autosomal recessive 106" NARROW [OMIM:617637, OMIM:genemap2]
synonym: "deafness, autosomal recessive 106" NARROW [OMIM:617637]
synonym: "DFNB106" NARROW ABBREVIATION [OMIM:617637]
xref: DOID:0080261 {source="MONDO:equivalentTo"}
xref: GARD:22656 {source="MONDO:GARD"}
xref: MEDGEN:1627111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617637 {source="DOID:0080261", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:617637"}
xref: UMLS:C4539954 {source="MEDGEN:1627111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DOID:0080261", source="OMIM:617637"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033199
name: hearing loss, autosomal recessive 107
subset: gard_rare {source="GARD:22657", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive nonsyndromic deafness 107" NARROW [DOID:0080262]
synonym: "deafness, autosomal recessive 107" NARROW [OMIM:617639, OMIM:genemap2]
synonym: "DFNB107" NARROW ABBREVIATION [OMIM:617639]
xref: DOID:0080262 {source="MONDO:equivalentTo"}
xref: GARD:22657 {source="MONDO:GARD"}
xref: MEDGEN:1622558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617639 {source="DOID:0080262", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:617639"}
xref: UMLS:C4539964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1622558"}
is_a: MONDO:0019588 {source="DOID:0080262", source="OMIM:617639"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033200
name: hearing loss, autosomal recessive 108
subset: gard_rare {source="GARD:22658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal recessive nonsyndromic deafness 108" NARROW [DOID:0080263]
synonym: "deafness, autosomal recessive 108" NARROW [OMIM:617654, OMIM:genemap2]
synonym: "DFNB108" NARROW ABBREVIATION [OMIM:617654]
xref: DOID:0080263 {source="MONDO:equivalentTo"}
xref: GARD:22658 {source="MONDO:GARD"}
xref: MEDGEN:1627841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617654 {source="DOID:0080263", source="MONDO:equivalentTo"}
xref: Orphanet:90636 {source="OMIM:617654"}
xref: UMLS:C4539997 {source="MEDGEN:1627841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="DOID:0080263", source="OMIM:617654"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033201
name: hearing loss, autosomal recessive 57
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, autosomal recessive 57" NARROW [OMIM:618003, OMIM:genemap2]
synonym: "DFNB57" NARROW ABBREVIATION [OMIM:618003]
synonym: "hearing loss, autosomal recessive 57" EXACT CLINGEN_LABEL []
xref: DOID:0111635 {source="MONDO:equivalentTo"}
xref: MEDGEN:1631180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618003 {source="MONDO:equivalentTo"}
xref: UMLS:C4693893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631180"}
is_a: MONDO:0019588 {source="OMIM:618003"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033202
name: hearing loss, autosomal recessive 109
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 109" NARROW [OMIM:618013, OMIM:genemap2]
synonym: "DFNB109" NARROW ABBREVIATION [OMIM:618013]
xref: DOID:0111639 {source="MONDO:equivalentTo"}
xref: MEDGEN:1633308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618013 {source="MONDO:equivalentTo"}
xref: UMLS:C4693935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633308"}
is_a: MONDO:0019588 {source="OMIM:618013"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033203
name: nephrotic syndrome 14
subset: gard_rare {source="GARD:13818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:506334"}
subset: orphanet_rare {source="Orphanet:506334"}
subset: rare
synonym: "familial steroid-resistant nephrotic syndrome with adrenal insufficiency" RELATED [Orphanet:506334]
synonym: "nephrotic syndrome 14" EXACT [OMIM:617575]
synonym: "nephrotic syndrome, type 14" EXACT [https://github.com/monarch-initiative/mondo/issues/306]
synonym: "NPHS14" RELATED ABBREVIATION [OMIM:617575]
synonym: "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency" EXACT [Orphanet:506334]
xref: DOID:0080265 {source="MONDO:equivalentTo"}
xref: GARD:13818 {source="MONDO:GARD"}
xref: MEDGEN:1617660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617575 {source="DOID:0080265", source="MONDO:equivalentTo", source="Orphanet:506334"}
xref: Orphanet:506334 {source="MONDO:equivalentTo", source="OMIM:617575"}
xref: UMLS:C4540559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617660"}
is_a: MONDO:0002350 {source="DOID:0080265", source="MONDO:Redundant", source="OMIM:617575"} ! familial nephrotic syndrome
is_a: MONDO:0005377 {source="MONDO:0019987-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! nephrotic syndrome
is_a: MONDO:0018117 {source="Orphanet:506334"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10817 ! SGPL1

[Term]
id: MONDO:0033204
name: ciliary dyskinesia, primary, 37
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16239", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CILD37" RELATED ABBREVIATION [OMIM:617577]
synonym: "ciliary dyskinesia, primary, 37" EXACT [OMIM:617577]
synonym: "ciliary dyskinesia, primary, 37, with or without situs inversus" RELATED [OMIM:617577]
synonym: "primary ciliary dyskinesia 37" RELATED [DOID:0080266]
xref: DOID:0080266 {source="MONDO:equivalentTo"}
xref: GARD:16239 {source="MONDO:GARD"}
xref: MEDGEN:1615746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617577 {source="DOID:0080266", source="MONDO:equivalentTo"}
xref: Orphanet:244 {source="OMIM:617577"}
xref: UMLS:C4539798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615746"}
is_a: MONDO:0016575 {source="DOID:0080266", source="OMIM:617577"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0033211
name: obsolete diencephalic-mesencephalic junction dysplasia syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6197" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017868

[Term]
id: MONDO:0033258
name: hearing loss, autosomal dominant 71
subset: gard_rare {source="GARD:18147", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant nonsyndromic deafness 71" NARROW [DOID:0080267]
synonym: "deafness, autosomal dominant 71" NARROW [OMIM:617605, OMIM:genemap2]
synonym: "DFNA71" NARROW ABBREVIATION [OMIM:617605]
xref: DOID:0080267 {source="MONDO:equivalentTo"}
xref: GARD:18147 {source="MONDO:GARD"}
xref: MEDGEN:1621646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617605 {source="MONDO:equivalentTo", source="DOID:0080267"}
xref: Orphanet:90635 {source="OMIM:617605"}
xref: UMLS:C4539881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621646"}
is_a: MONDO:0019587 {source="DOID:0080267", source="OMIM:617605"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033259
name: hearing loss, autosomal dominant 72
subset: gard_rare {source="GARD:18148", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant nonsyndromic deafness 72" NARROW [DOID:0080268]
synonym: "deafness, autosomal dominant 72" NARROW [OMIM:617606, OMIM:genemap2]
synonym: "DFNA72" NARROW ABBREVIATION [OMIM:617606]
xref: DOID:0080268 {source="MONDO:equivalentTo"}
xref: GARD:18148 {source="MONDO:GARD"}
xref: MEDGEN:1614203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617606 {source="DOID:0080268", source="MONDO:equivalentTo"}
xref: Orphanet:90635 {source="OMIM:617606"}
xref: UMLS:C4539886 {source="MONDO:equivalentTo", source="MEDGEN:1614203", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DOID:0080268", source="OMIM:617606"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033260
name: hearing loss, autosomal dominant 73
subset: gard_rare {source="GARD:18149", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant nonsyndromic deafness 73" NARROW [DOID:0080269]
synonym: "deafness, autosomal dominant 73" NARROW [OMIM:617663, OMIM:genemap2]
synonym: "DFNA73" NARROW ABBREVIATION [OMIM:617663]
xref: DOID:0080269 {source="MONDO:equivalentTo"}
xref: GARD:18149 {source="MONDO:GARD"}
xref: MEDGEN:1627153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617663 {source="MONDO:equivalentTo", source="DOID:0080269"}
xref: UMLS:C4540024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1627153"}
is_a: MONDO:0019587 {source="DOID:0080269", source="OMIM:617663"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033261
name: hearing loss, autosomal dominant 34, with or without inflammation
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant nonsyndromic deafness 34" NARROW [DOID:0080270]
synonym: "deafness, autosomal dominant 34, with or without inflammation" NARROW [OMIM:617772, OMIM:genemap2]
synonym: "DFNA34" NARROW ABBREVIATION [OMIM:617772]
xref: DOID:0080270 {source="MONDO:equivalentTo"}
xref: MEDGEN:1626346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617772 {source="MONDO:equivalentTo", source="DOID:0080270"}
xref: UMLS:C4521680 {source="MEDGEN:1626346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="DOID:0080270", source="OMIM:617772"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033262
name: nephrotic syndrome 15
synonym: "nephrotic syndrome 15" EXACT [OMIM:617609]
synonym: "nephrotic syndrome, type 15" EXACT [https://github.com/monarch-initiative/mondo/issues/307]
synonym: "NPHS15" RELATED ABBREVIATION [OMIM:617609]
xref: DOID:0080271 {source="MONDO:equivalentTo"}
xref: MEDGEN:1620414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617609 {source="MONDO:equivalentTo", source="DOID:0080271"}
xref: UMLS:C4539896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620414"}
is_a: MONDO:0002350 {source="DOID:0080271", source="OMIM:617609"} ! familial nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18957 ! MAGI2

[Term]
id: MONDO:0033280
name: nephrotic syndrome 16
synonym: "nephrotic syndrome 16" EXACT [OMIM:617783]
synonym: "nephrotic syndrome, type 16" EXACT [https://github.com/monarch-initiative/mondo/issues/308]
synonym: "NPHS16" RELATED ABBREVIATION [OMIM:617783]
xref: DOID:0080272 {source="MONDO:equivalentTo"}
xref: MEDGEN:1622427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617783 {source="DOID:0080272", source="MONDO:equivalentTo"}
xref: UMLS:C4540453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1622427"}
is_a: MONDO:0002350 {source="DOID:0080272", source="OMIM:617783"} ! familial nephrotic syndrome
intersection_of: MONDO:0005377 ! nephrotic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29300 ! KANK2

[Term]
id: MONDO:0033281
name: polycystic kidney disease 5
def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16242", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DZIP1L polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "PKD5" RELATED ABBREVIATION [OMIM:617610]
synonym: "polycystic kidney disease 5" EXACT [OMIM:617610]
synonym: "polycystic kidney disease caused by mutation in DZIP1L" EXACT []
xref: DOID:0080273 {source="MONDO:equivalentTo"}
xref: GARD:16242 {source="MONDO:GARD"}
xref: MEDGEN:1624679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617610 {source="DOID:0080273", source="MONDO:equivalentTo"}
xref: Orphanet:731 {source="OMIM:617610", source="MONDO:relatedTo"}
xref: UMLS:C4539903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1624679"}
is_a: MONDO:0020642 {source="OMIM:617610"} ! polycystic kidney disease
intersection_of: MONDO:0020642 ! polycystic kidney disease
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26551 ! DZIP1L
relationship: excluded_subClassOf MONDO:0004691 {source="DOID:0080273", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant polycystic kidney disease
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0033282
name: multiple mitochondrial dysfunctions syndrome 5
subset: gard_rare {source="GARD:22305", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:569274"}
subset: orphanet_rare {source="Orphanet:569274"}
subset: rare
synonym: "MMDS5" RELATED ABBREVIATION [OMIM:617613]
synonym: "multiple mitochondrial dysfunctions syndrome 5" EXACT [OMIM:617613]
xref: DOID:0080274 {source="MONDO:equivalentTo"}
xref: GARD:22305 {source="MONDO:GARD"}
xref: MEDGEN:1623132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617613 {source="DOID:0080274", source="MONDO:equivalentTo"}
xref: Orphanet:569274 {source="MONDO:equivalentTo"}
xref: UMLS:C4539919 {source="MEDGEN:1623132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004069 {source="DOID:0080274", source="MONDO:indirect"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0017338 {source="OMIM:617613"} ! fatal multiple mitochondrial dysfunctions syndrome

[Term]
id: MONDO:0033304
name: nonsyndromic deafness, Y-linked
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0111757 {source="MONDO:equivalentTo"}
xref: OMIMPS:400043 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0019497 ! nonsyndromic genetic hearing loss
intersection_of: has_characteristic HP:0001450 ! Y-linked inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:400043"} ! inherited

[Term]
id: MONDO:0033308
name: Joubert syndrome 30
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS30" RELATED ABBREVIATION [OMIM:617622]
synonym: "Joubert syndrome 30" EXACT [OMIM:617622]
xref: DOID:0080275 {source="MONDO:equivalentTo"}
xref: GARD:16243 {source="MONDO:GARD"}
xref: MEDGEN:1613861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617622 {source="DOID:0080275", source="MONDO:equivalentTo"}
xref: Orphanet:475 {source="OMIM:617622"}
xref: UMLS:C4539937 {source="MEDGEN:1613861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DOID:0080275", source="OMIM:617622"} ! Joubert syndrome

[Term]
id: MONDO:0033309
name: Joubert syndrome 32
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS32" RELATED ABBREVIATION [OMIM:617757]
synonym: "Joubert syndrome 32" EXACT [OMIM:617757]
xref: DOID:0080278 {source="MONDO:equivalentTo"}
xref: MEDGEN:1626697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617757 {source="MONDO:equivalentTo", source="DOID:0080278"}
xref: UMLS:C4540342 {source="MEDGEN:1626697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DOID:0080278", source="OMIM:617757"} ! Joubert syndrome

[Term]
id: MONDO:0033310
name: Joubert syndrome 31
subset: gard_rare {source="GARD:16251", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS31" RELATED ABBREVIATION [OMIM:617761]
synonym: "Joubert syndrome 31" EXACT [OMIM:617761]
xref: DOID:0080277 {source="MONDO:equivalentTo"}
xref: GARD:16251 {source="MONDO:GARD"}
xref: MEDGEN:1618082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617761 {source="DOID:0080277", source="MONDO:equivalentTo"}
xref: Orphanet:475 {source="OMIM:617761"}
xref: UMLS:C4540355 {source="MEDGEN:1618082", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="DOID:0080277", source="OMIM:617761"} ! Joubert syndrome

[Term]
id: MONDO:0033311
name: Joubert syndrome 33
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS33" RELATED ABBREVIATION [OMIM:617767]
synonym: "Joubert syndrome 33" EXACT [OMIM:617767]
xref: DOID:0080279 {source="MONDO:equivalentTo"}
xref: MEDGEN:1615779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617767 {source="DOID:0080279", source="MONDO:equivalentTo"}
xref: UMLS:C4540389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615779"}
is_a: MONDO:0018772 {source="DOID:0080279", source="OMIM:617767"} ! Joubert syndrome

[Term]
id: MONDO:0033312
name: schizophrenia 19
synonym: "schizophrenia 19" EXACT [OMIM:617629]
synonym: "schizophrenia 19 with or without an affective disorder" RELATED [OMIM:617629]
synonym: "schizophrenia 19, susceptibility to" RELATED [OMIM:617629, OMIM:genemap2]
synonym: "SCZD19" RELATED ABBREVIATION [OMIM:617629]
xref: DOID:0080281 {source="MONDO:equivalentTo"}
xref: MEDGEN:1613937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617629 {source="MONDO:equivalentTo", source="DOID:0080281"}
xref: UMLS:C4539944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613937"}
is_a: MONDO:0005090 {source="DOID:0080281"} ! schizophrenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033329
name: obsolete genetic precocious puberty
subset: ordo_group_of_disorders {source="Orphanet:435554"}
xref: GARD:21806 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:435554 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033331
name: obsolete genetic precocious puberty in female
subset: ordo_group_of_disorders {source="Orphanet:435564"}
xref: GARD:21808 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:435564 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033334
name: obsolete genetic nose and cavum anomaly
subset: ordo_group_of_disorders {source="Orphanet:435606"}
xref: GARD:21810 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:435606 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033335
name: obsolete genetic larynx anomaly
subset: ordo_group_of_disorders {source="Orphanet:435609"}
xref: GARD:21811 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:435609 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033336
name: obsolete genetic tracheal anomaly
subset: ordo_group_of_disorders {source="Orphanet:435612"}
xref: GARD:21812 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:435612 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033352
name: neuropathy, congenital hypomelinating
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHN" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
xref: MEDGEN:97965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:605253 {source="MONDO:equivalentTo"}
xref: UMLS:C0393818 {source="MEDGEN:97965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005244 {source="https://orcid.org/0000-0001-5208-3432"} ! peripheral neuropathy
is_a: MONDO:0020127 {source="https://orcid.org/0000-0002-6601-2165"} ! hereditary peripheral neuropathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:605253"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0033361
name: developmental and epileptic encephalopathy, 52
subset: gard_rare {source="GARD:16223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE52" EXACT ABBREVIATION [OMIM:617350]
synonym: "developmental and epileptic encephalopathy 52" EXACT [OMIM:617350, OMIM:genemap2]
synonym: "EIEE52" EXACT ABBREVIATION [OMIM:617350]
synonym: "epileptic encephalopathy, early infantile, 52" EXACT [OMIM:617350]
xref: DOID:0080455 {source="MONDO:equivalentTo"}
xref: GARD:16223 {source="MONDO:GARD"}
xref: MEDGEN:1376462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617350 {source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="OMIM:617350"}
xref: UMLS:C4479236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376462"}
is_a: MONDO:0100062 {source="OMIM:617350"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033362
name: developmental and epileptic encephalopathy, 53
subset: gard_rare {source="GARD:16224", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE53" EXACT ABBREVIATION [OMIM:617389]
synonym: "developmental and epileptic encephalopathy 53" EXACT [OMIM:617389, OMIM:genemap2]
synonym: "EIEE53" EXACT ABBREVIATION [OMIM:617389]
synonym: "epileptic encephalopathy, early infantile, 53" EXACT [OMIM:617389]
xref: DOID:0080464 {source="MONDO:equivalentTo"}
xref: GARD:16224 {source="MONDO:GARD"}
xref: MEDGEN:1374886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617389 {source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="OMIM:617389"}
xref: UMLS:C4479313 {source="MEDGEN:1374886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:617389"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033363
name: developmental and epileptic encephalopathy, 54
subset: gard_rare {source="GARD:16225", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:146101"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE54" EXACT ABBREVIATION [OMIM:617391]
synonym: "developmental and epileptic encephalopathy 54" EXACT [OMIM:617391, OMIM:genemap2]
synonym: "EIEE54" EXACT ABBREVIATION [OMIM:617391]
synonym: "epileptic encephalopathy, early infantile, 54" EXACT [OMIM:617391]
synonym: "HNRNPU-Related Disorder" EXACT [NORD:146101]
xref: DOID:0080418 {source="MONDO:equivalentTo"}
xref: GARD:16225 {source="MONDO:GARD"}
xref: MEDGEN:1392637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:146101 {source="MONDO:NORD"}
xref: OMIM:617391 {source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="OMIM:617391"}
xref: UMLS:C4479319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392637"}
is_a: MONDO:0100062 {source="OMIM:617391"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033364
name: developmental and epileptic encephalopathy, 55
subset: gard_rare {source="GARD:16241", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE55" EXACT ABBREVIATION [OMIM:617599]
synonym: "developmental and epileptic encephalopathy 55" EXACT [OMIM:617599, OMIM:genemap2]
synonym: "EIEE55" EXACT ABBREVIATION [OMIM:617599]
synonym: "epileptic encephalopathy, early infantile, 55" EXACT [OMIM:617599]
synonym: "glycosylphosphatidylinositol biosynthesis defect 14" RELATED [OMIM:617599]
synonym: "infantile epileptic encephalopathy 55" RELATED [DOID:0080283]
xref: DOID:0080283 {source="MONDO:equivalentTo"}
xref: GARD:16241 {source="MONDO:GARD"}
xref: MEDGEN:1622363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617599 {source="DOID:0080283", source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="OMIM:617599"}
xref: UMLS:C4539843 {source="MEDGEN:1622363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis
is_a: MONDO:0100062 {source="DOID:0080283", source="OMIM:617599"} ! developmental and epileptic encephalopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3046 {source="OMIM:617599"} ! PIGP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033365
name: developmental and epileptic encephalopathy, 56
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE56" EXACT ABBREVIATION [OMIM:617665]
synonym: "developmental and epileptic encephalopathy 56" EXACT [OMIM:617665, OMIM:genemap2]
synonym: "EIEE56" EXACT ABBREVIATION [OMIM:617665]
synonym: "epileptic encephalopathy, early infantile, 56" EXACT [OMIM:617665]
synonym: "infantile epileptic encephalopathy 56" EXACT [DOID:0080282]
xref: DOID:0080282 {source="MONDO:equivalentTo"}
xref: MEDGEN:1621755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617665 {source="MONDO:equivalentTo", source="DOID:0080282"}
xref: UMLS:C4540034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621755"}
is_a: MONDO:0100062 {source="DOID:0080282", source="OMIM:617665"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033366
name: developmental and epileptic encephalopathy, 57
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE57" EXACT ABBREVIATION [OMIM:617771]
synonym: "developmental and epileptic encephalopathy 57" EXACT [OMIM:617771, OMIM:genemap2]
synonym: "EIEE57" EXACT ABBREVIATION [OMIM:617771]
synonym: "epileptic encephalopathy, early infantile, 57" EXACT [OMIM:617771]
synonym: "infantile epileptic encephalopathy 57" EXACT [DOID:0080284]
xref: DOID:0080284 {source="MONDO:equivalentTo"}
xref: MEDGEN:1621769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617771 {source="DOID:0080284", source="MONDO:equivalentTo"}
xref: UMLS:C4540411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621769"}
is_a: MONDO:0100062 {source="DOID:0080284", source="OMIM:617771"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033367
name: developmental and epileptic encephalopathy, 58
subset: gard_rare {source="GARD:16259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE58" EXACT ABBREVIATION [OMIM:617830]
synonym: "developmental and epileptic encephalopathy 58" EXACT [OMIM:617830, OMIM:genemap2]
synonym: "EIEE58" EXACT ABBREVIATION [OMIM:617830]
synonym: "epileptic encephalopathy, early infantile, 58" EXACT [OMIM:617830]
synonym: "infantile epileptic encephalopathy 58" EXACT [DOID:0080285]
xref: DOID:0080285 {source="MONDO:equivalentTo"}
xref: GARD:16259 {source="MONDO:GARD"}
xref: MEDGEN:1646861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617830 {source="DOID:0080285", source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="OMIM:617830", source="MONDO:relatedTo"}
xref: UMLS:C4693367 {source="MEDGEN:1646861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DOID:0080285", source="OMIM:617830"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033368
name: developmental and epileptic encephalopathy, 59
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE59" EXACT ABBREVIATION [OMIM:617904]
synonym: "developmental and epileptic encephalopathy 59" EXACT [OMIM:617904, OMIM:genemap2]
synonym: "EIEE59" EXACT ABBREVIATION [OMIM:617904]
synonym: "epileptic encephalopathy, early infantile, 59" EXACT [OMIM:617904]
synonym: "infantile epileptic encephalopathy 59" EXACT [DOID:0080291]
xref: DOID:0080291 {source="MONDO:equivalentTo"}
xref: MEDGEN:1633749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617904 {source="MONDO:equivalentTo", source="DOID:0080291"}
xref: UMLS:C4693550 {source="MEDGEN:1633749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DOID:0080291", source="OMIM:617904"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033369
name: developmental and epileptic encephalopathy, 60
subset: gard_rare {source="GARD:16270", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE60" EXACT ABBREVIATION [OMIM:617929]
synonym: "developmental and epileptic encephalopathy 60" EXACT [OMIM:617929, OMIM:genemap2]
synonym: "EIEE60" EXACT ABBREVIATION [OMIM:617929]
synonym: "epileptic encephalopathy, early infantile, 60" EXACT [OMIM:617929]
xref: DOID:0080432 {source="MONDO:equivalentTo"}
xref: GARD:16270 {source="MONDO:GARD"}
xref: MEDGEN:1638894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617929 {source="MONDO:equivalentTo"}
xref: UMLS:C4693663 {source="MEDGEN:1638894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:617929"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033370
name: developmental and epileptic encephalopathy, 61
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE61" EXACT ABBREVIATION [OMIM:617933]
synonym: "developmental and epileptic encephalopathy 61" EXACT [OMIM:617933, OMIM:genemap2]
synonym: "EIEE61" EXACT ABBREVIATION [OMIM:617933]
synonym: "epileptic encephalopathy, early infantile, 61" EXACT [OMIM:617933]
xref: DOID:0080434 {source="MONDO:equivalentTo"}
xref: MEDGEN:1639392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617933 {source="MONDO:equivalentTo"}
xref: UMLS:C4693688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639392"}
is_a: MONDO:0100062 {source="OMIM:617933"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033371
name: developmental and epileptic encephalopathy, 62
subset: gard_rare {source="GARD:16271", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE62" EXACT ABBREVIATION [OMIM:617938]
synonym: "developmental and epileptic encephalopathy 62" EXACT [OMIM:617938, OMIM:genemap2]
synonym: "EIEE62" EXACT ABBREVIATION [OMIM:617938]
synonym: "epileptic encephalopathy, early infantile, 62" EXACT [OMIM:617938]
xref: DOID:0080420 {source="MONDO:equivalentTo"}
xref: GARD:16271 {source="MONDO:GARD"}
xref: MEDGEN:1631233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617938 {source="MONDO:equivalentTo"}
xref: UMLS:C4693699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631233"}
is_a: MONDO:0100062 {source="OMIM:617938"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033372
name: developmental and epileptic encephalopathy, 63
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE63" EXACT ABBREVIATION [OMIM:617976]
synonym: "developmental and epileptic encephalopathy 63" EXACT [OMIM:617976, OMIM:genemap2]
synonym: "EIEE63" EXACT ABBREVIATION [OMIM:617976]
synonym: "epileptic encephalopathy, early infantile, 63" EXACT [OMIM:617976]
xref: DOID:0080426 {source="MONDO:equivalentTo"}
xref: MEDGEN:1646846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617976 {source="MONDO:equivalentTo"}
xref: UMLS:C4693810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646846"}
is_a: MONDO:0100062 {source="OMIM:617976"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033373
name: developmental and epileptic encephalopathy, 64
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE64" EXACT ABBREVIATION [OMIM:618004]
synonym: "developmental and epileptic encephalopathy 64" EXACT [OMIM:618004, OMIM:genemap2]
synonym: "EIEE64" EXACT ABBREVIATION [OMIM:618004]
synonym: "epileptic encephalopathy, early infantile, 64" EXACT [OMIM:618004]
xref: DOID:0070375 {source="MONDO:equivalentTo"}
xref: MEDGEN:1633501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618004 {source="MONDO:equivalentTo"}
xref: UMLS:C4693899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633501"}
is_a: MONDO:0100062 {source="OMIM:618004"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033374
name: developmental and epileptic encephalopathy, 65
subset: gard_rare {source="GARD:16283", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE65" EXACT ABBREVIATION [OMIM:618008]
synonym: "developmental and epileptic encephalopathy 65" EXACT [OMIM:618008, OMIM:genemap2]
synonym: "EIEE65" EXACT ABBREVIATION [OMIM:618008]
synonym: "epileptic encephalopathy, early infantile, 65" EXACT [OMIM:618008]
xref: DOID:0080430 {source="MONDO:equivalentTo"}
xref: GARD:16283 {source="MONDO:GARD"}
xref: MEDGEN:1634676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618008 {source="MONDO:equivalentTo"}
xref: UMLS:C4693925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634676"}
is_a: MONDO:0100062 {source="OMIM:618008"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033375
name: orofaciodigital syndrome 17
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OFD17" RELATED ABBREVIATION [OMIM:617926]
synonym: "Ofds 17" RELATED [OMIM:617926]
synonym: "oral-Facial-digital syndrome, type 17" RELATED [OMIM:617926]
synonym: "orofaciodigital syndrome XVII" RELATED [DOID:0080289, OMIM:617926]
xref: DOID:0080289 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617926 {source="MONDO:equivalentTo", source="DOID:0080289"}
xref: UMLS:C4693640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644516"}
is_a: MONDO:0015375 {source="DOID:0080289"} ! orofaciodigital syndrome

[Term]
id: MONDO:0033479
name: spinocerebellar ataxia 44
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:631095"}
subset: orphanet_rare {source="Orphanet:631095"}
subset: rare
synonym: "SCA44" RELATED ABBREVIATION [OMIM:617691]
synonym: "spinocerebellar ataxia 44" EXACT [OMIM:617691]
xref: DOID:0080286 {source="MONDO:equivalentTo"}
xref: MEDGEN:1611168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617691 {source="DOID:0080286", source="MONDO:equivalentTo"}
xref: Orphanet:631095 {xref="MONDO:equivalentTo"}
xref: UMLS:C4521563 {source="MEDGEN:1611168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000437 {source="OMIM:617691"} ! cerebellar ataxia
is_a: MONDO:0020380 {source="DOID:0080286", source="MONDO:Redundant", source="OMIM:617691"} ! autosomal dominant cerebellar ataxia
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0033480
name: spinocerebellar ataxia 45
subset: gard_rare {source="GARD:22353", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589527"}
subset: orphanet_rare {source="Orphanet:589527"}
subset: rare
synonym: "SCA45" RELATED ABBREVIATION [OMIM:617769]
synonym: "spinocerebellar ataxia 45" EXACT [OMIM:617769]
xref: DOID:0080287 {source="MONDO:equivalentTo"}
xref: GARD:22353 {source="MONDO:GARD"}
xref: MEDGEN:1622156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617769 {source="DOID:0080287", source="MONDO:equivalentTo"}
xref: Orphanet:589527 {source="MONDO:equivalentTo"}
xref: UMLS:C4540400 {source="MONDO:equivalentTo", source="MEDGEN:1622156", source="MONDO:MEDGEN"}
is_a: MONDO:0000437 {source="OMIM:617769"} ! cerebellar ataxia
is_a: MONDO:0019793 {source="Orphanet:589527"} ! autosomal dominant cerebellar ataxia type III
is_a: MONDO:0020380 {source="DOID:0080287", source="MONDO:Redundant", source="OMIM:617769"} ! autosomal dominant cerebellar ataxia
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0033481
name: spinocerebellar ataxia 46
subset: gard_rare {source="GARD:22352", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589522"}
subset: orphanet_rare {source="Orphanet:589522"}
subset: rare
synonym: "SCA46" RELATED ABBREVIATION [OMIM:617770]
synonym: "spinocerebellar ataxia 46" EXACT [OMIM:617770]
synonym: "spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:617770]
xref: DOID:0080288 {source="MONDO:equivalentTo"}
xref: GARD:22352 {source="MONDO:GARD"}
xref: MEDGEN:1624251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617770 {source="DOID:0080288", source="MONDO:equivalentTo"}
xref: Orphanet:589522 {source="MONDO:equivalentTo"}
xref: UMLS:C4540404 {source="MEDGEN:1624251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000437 {source="OMIM:617770"} ! cerebellar ataxia
is_a: MONDO:0019792 {source="Orphanet:589522"} ! autosomal dominant cerebellar ataxia type I
is_a: MONDO:0020380 {source="DOID:0080288", source="MONDO:Redundant", source="OMIM:617770"} ! autosomal dominant cerebellar ataxia
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0033482
name: spinocerebellar ataxia 47
def: "A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis." [Orphanet:642747]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:642747"}
subset: orphanet_rare {source="Orphanet:642747"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PUM1-related cerebellar ataxia" EXACT [Orphanet:642747]
synonym: "SCA47" RELATED ABBREVIATION [OMIM:617931]
synonym: "spinocerebellar ataxia 47" EXACT [OMIM:617931]
xref: DOID:0111743 {source="MONDO:equivalentTo"}
xref: MEDGEN:1636349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617931 {source="MONDO:equivalentTo"}
xref: Orphanet:642747 {source="MONDO:equivalentTo"}
xref: UMLS:C4693672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636349"}
is_a: MONDO:0020380 {source="OMIM:617931"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0033483
name: erythrocytosis, familial, 5
def: "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECYT5" RELATED ABBREVIATION [OMIM:617907]
synonym: "EPO familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "erythrocytosis, familial, 5" EXACT [OMIM:617907]
synonym: "familial erythrocytosis 5" RELATED [DOID:0080290]
synonym: "familial polycythemia caused by mutation in EPO" EXACT [MONDO:design_pattern]
xref: DOID:0080290 {source="MONDO:equivalentTo"}
xref: MEDGEN:1638941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617907 {source="MONDO:equivalentTo", source="DOID:0080290"}
xref: UMLS:C4693552 {source="MEDGEN:1638941", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001115 {source="DOID:0080290", source="MONDO:Redundant", source="OMIM:617907"} ! familial polycythemia
intersection_of: MONDO:0001115 ! familial polycythemia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3415 ! EPO

[Term]
id: MONDO:0033485
name: short-rib thoracic dysplasia 19 with or without polydactyly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short-rib thoracic dysplasia 19 with or without polydactyly" EXACT [OMIM:617895]
synonym: "SRTD19" RELATED ABBREVIATION [OMIM:617895]
xref: DOID:0080295 {source="MONDO:equivalentTo"}
xref: MEDGEN:1635837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617895 {source="DOID:0080295", source="MONDO:equivalentTo"}
xref: UMLS:C4693524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635837"}
is_a: MONDO:0018770 {source="DOID:0080295", source="OMIM:617895"} ! Jeune syndrome

[Term]
id: MONDO:0033486
name: leukodystrophy, hypomyelinating, 14
subset: gard_rare {source="GARD:16266", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD14" RELATED ABBREVIATION [OMIM:617899]
synonym: "hypomyelinating leukodystrophy 14" RELATED [DOID:0080296]
synonym: "leukodystrophy, hypomyelinating, 14" EXACT [OMIM:617899]
xref: DOID:0080296 {source="MONDO:equivalentTo"}
xref: GARD:16266 {source="MONDO:GARD"}
xref: MEDGEN:1635255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617899 {source="DOID:0080296", source="MONDO:equivalentTo"}
xref: UMLS:C4693535 {source="MEDGEN:1635255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="DOID:0080296", source="DOID:0080296/inferred", source="OMIM:617899"} ! leukodystrophy

[Term]
id: MONDO:0033492
name: Coffin-Siris syndrome 6
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene." [MONDO:patterns/OMIM_disease_series_by_gene]
subset: gard_rare {source="GARD:16254", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ARID2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
synonym: "COFFIN-SIRIS syndrome 6" RELATED [OMIM:617808]
synonym: "Coffin-Siris syndrome 6" EXACT CLINGEN_LABEL []
synonym: "CSS6" RELATED ABBREVIATION [OMIM:617808]
xref: DOID:0080297 {source="MONDO:equivalentTo"}
xref: GARD:16254 {source="MONDO:GARD"}
xref: MEDGEN:1615540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617808 {source="DOID:0080297", source="MONDO:equivalentTo"}
xref: Orphanet:1465 {source="MONDO:relatedTo", source="OMIM:617808"}
xref: UMLS:C4540499 {source="MEDGEN:1615540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015802 {source="DOID:0080297", source="OMIM:617808"} ! autosomal dominant non-syndromic intellectual disability
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18037 {source="OMIM:617808", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ARID2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0033493
name: fibromatosis, gingival, 5
subset: gard_rare {source="GARD:18357", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "fibromatosis, gingival, 5" EXACT [OMIM:617626]
synonym: "fibromatosis, gingival, hereditary, 5" RELATED [OMIM:617626]
synonym: "GGF5" RELATED ABBREVIATION [OMIM:617626]
synonym: "GINGF5" RELATED ABBREVIATION [OMIM:617626]
synonym: "gingival fibromatosis 5" RELATED [DOID:0080280]
xref: DOID:0080280 {source="MONDO:equivalentTo"}
xref: GARD:18357 {source="MONDO:GARD"}
xref: MEDGEN:1624392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617626 {source="MONDO:equivalentTo", source="DOID:0080280"}
xref: Orphanet:2024 {source="OMIM:617626"}
xref: UMLS:C4539942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1624392"}
is_a: MONDO:0016070 {source="DOID:0080280", source="OMIM:617626"} ! hereditary gingival fibromatosis

[Term]
id: MONDO:0033532
name: Suleiman-El-Hattab syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "SULEHS" RELATED ABBREVIATION [OMIM:618950]
synonym: "SULEIMAN-EL-HATTAB SYNDROME" RELATED [OMIM:618950]
xref: MEDGEN:1738652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618950 {source="MONDO:equivalentTo"}
xref: UMLS:C5436458 {source="MEDGEN:1738652", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033533
name: combined oxidative phosphorylation deficiency 45
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45" RELATED [OMIM:618951]
synonym: "COXPD45" RELATED ABBREVIATION [OMIM:618951]
xref: DOID:0112113 {source="MONDO:equivalentTo"}
xref: MEDGEN:1731010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618951 {source="MONDO:equivalentTo"}
xref: UMLS:C5436461 {source="MEDGEN:1731010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:618951"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033534
name: combined oxidative phosphorylation deficiency 46
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46" RELATED [OMIM:618952]
synonym: "combined oxidative phosphorylation defiency 46" EXACT [OMIM:618952, OMIM:genemap2]
synonym: "COXPD46" RELATED ABBREVIATION [OMIM:618952]
xref: DOID:0112115 {source="MONDO:equivalentTo"}
xref: MEDGEN:1752252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618952 {source="MONDO:equivalentTo"}
xref: UMLS:C5436466 {source="MEDGEN:1752252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:618952"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033537
name: combined oxidative phosphorylation deficiency 47
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47" RELATED [OMIM:618958]
synonym: "COXPD47" RELATED ABBREVIATION [OMIM:618958]
xref: DOID:0112114 {source="MONDO:equivalentTo"}
xref: MEDGEN:1775535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618958 {source="MONDO:equivalentTo"}
xref: UMLS:C5436476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1775535"}
is_a: MONDO:0000732 {source="OMIM:618958"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033541
name: immunodeficiency 69
subset: otar {source="MONDO:OTAR"}
synonym: "Ifng Deficiency, Autosomal Recessive" RELATED [OMIM:618963]
synonym: "IMD69" RELATED ABBREVIATION [OMIM:618963]
synonym: "IMMUNODEFICIENCY 69" RELATED [OMIM:618963]
synonym: "immunodeficiency 69, mycobacteriosis" EXACT [OMIM:618963, OMIM:genemap2]
synonym: "Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive" RELATED [OMIM:618963]
xref: DOID:0112006 {source="MONDO:equivalentTo"}
xref: MEDGEN:1735911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618963 {source="MONDO:equivalentTo"}
xref: UMLS:C5436498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1735911"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618963"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033542
name: immunodeficiency 70
subset: otar {source="MONDO:OTAR"}
synonym: "IMD70" RELATED ABBREVIATION [OMIM:618969]
synonym: "IMMUNODEFICIENCY 70" RELATED [OMIM:618969]
xref: DOID:0112005 {source="MONDO:equivalentTo"}
xref: MEDGEN:1740270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618969 {source="MONDO:equivalentTo"}
xref: UMLS:C5436501 {source="MEDGEN:1740270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618969"} ! immunodeficiency disease

[Term]
id: MONDO:0033543
name: cone-rod synaptic disorder syndrome, congenital nonprogressive
subset: otar {source="MONDO:OTAR"}
synonym: "CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE" RELATED [OMIM:618970]
synonym: "CRSDS" RELATED ABBREVIATION [OMIM:618970]
xref: MEDGEN:1773574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618970 {source="MONDO:equivalentTo"}
xref: UMLS:C5436505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773574"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0033544
name: Tolchin-Le Caignec syndrome
subset: gard_rare {source="GARD:18525", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder With behavioral abnormalities and variable bone defects" RELATED [OMIM:618971]
synonym: "intellectual developmental disorder With behavioural abnormalities and variable bone defects" RELATED OMO:0003005 []
synonym: "TOLCAS" RELATED ABBREVIATION [OMIM:618971]
synonym: "TOLCHIN-LE CAIGNEC SYNDROME" RELATED [OMIM:618971]
xref: GARD:18525 {source="MONDO:GARD"}
xref: MEDGEN:1724999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618971 {source="MONDO:equivalentTo"}
xref: UMLS:C5436509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1724999"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033545
name: mitochondrial DNA depletion syndrome 19
subset: gard_rare {source="GARD:18370", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 19" RELATED [OMIM:618972]
synonym: "MTDPS19" RELATED ABBREVIATION [OMIM:618972]
xref: DOID:0070450 {source="MONDO:equivalentTo"}
xref: GARD:18370 {source="MONDO:GARD"}
xref: MEDGEN:1770258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618972 {source="MONDO:equivalentTo"}
xref: UMLS:C5436514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1770258"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018158 {source="OMIM:618972"} ! mitochondrial DNA depletion syndrome

[Term]
id: MONDO:0033546
name: neurodegeneration, infantile-onset, biotin-responsive
subset: otar {source="MONDO:OTAR"}
synonym: "NERIB" RELATED ABBREVIATION [OMIM:618973]
synonym: "NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE" RELATED [OMIM:618973]
synonym: "Smvt Deficiency" RELATED [OMIM:618973]
synonym: "Sodium-Dependent Multivitamin Transporter Deficiency" RELATED [OMIM:618973]
xref: MEDGEN:1771692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618973 {source="MONDO:equivalentTo"}
xref: UMLS:C5436520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1771692"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033547
name: Li-Ghorbani-Weisz-Hubshman syndrome
subset: gard_rare {source="GARD:18526", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" RELATED [OMIM:618974]
synonym: "Li-Ghorgani-Weisz-Hubshman syndrome" EXACT [OMIM:618974, OMIM:genemap2]
synonym: "LIGOWS" RELATED ABBREVIATION [OMIM:618974]
xref: GARD:18526 {source="MONDO:GARD"}
xref: MEDGEN:1763263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618974 {source="MONDO:equivalentTo"}
xref: UMLS:C5436525 {source="MEDGEN:1763263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033548
name: myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MYODRIF" RELATED ABBREVIATION [OMIM:618975]
synonym: "Myopathy, Congenital, Due to Myod1 Deficiency" RELATED [OMIM:618975]
synonym: "MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES" RELATED [OMIM:618975]
xref: DOID:0081349 {source="MONDO:equivalentTo"}
xref: MEDGEN:1764743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618975 {source="MONDO:equivalentTo"}
xref: UMLS:C5436530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1764743"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019952 {source="OMIM:618975"} ! congenital myopathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0033549
name: optic atrophy 12
subset: gard_rare {source="GARD:16399", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OPA12" RELATED ABBREVIATION [OMIM:618977]
synonym: "OPTIC ATROPHY 12" RELATED [OMIM:618977]
xref: DOID:0080840 {source="MONDO:equivalentTo"}
xref: GARD:16399 {source="MONDO:GARD"}
xref: MEDGEN:1720703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618977 {source="MONDO:equivalentTo"}
xref: UMLS:C5436534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720703"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0043878 {source="OMIM:618977"} ! hereditary optic atrophy

[Term]
id: MONDO:0033550
name: obsolete high density lipoprotein cholesterol level quantitative trait locus 7
synonym: "HDLCQ7" RELATED ABBREVIATION [OMIM:618979]
synonym: "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7" RELATED [OMIM:618979]
xref: OMIM:618979 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0033551
name: immunodeficiency 72 with autoinflammation
subset: otar {source="MONDO:OTAR"}
synonym: "IMD72" RELATED ABBREVIATION [OMIM:618982]
synonym: "IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION" RELATED [OMIM:618982]
xref: DOID:0112015 {source="MONDO:equivalentTo"}
xref: MEDGEN:1749856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618982 {source="MONDO:equivalentTo"}
xref: UMLS:C5436540 {source="MEDGEN:1749856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:618982"} ! immunodeficiency disease

[Term]
id: MONDO:0033552
name: obsolete blood group, lewis system
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "blood group, Lewis" EXACT [OMIM:618983, OMIM:genemap2]
synonym: "BLOOD GROUP, LEWIS SYSTEM" RELATED [OMIM:618983]
synonym: "LE" RELATED ABBREVIATION [OMIM:618983]
synonym: "Lewis Blood Group System" RELATED [OMIM:618983]
synonym: "Lewis-Negative Phenotype" RELATED [OMIM:618983]
xref: OMIM:618983 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033554
name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD73B" EXACT ABBREVIATION [OMIM:618986]
synonym: "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" EXACT [OMIM:618986]
xref: DOID:0112061 {source="MONDO:equivalentTo"}
xref: MEDGEN:1740566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618986 {source="MONDO:equivalentTo"}
xref: UMLS:C5436549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1740566"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:618986"} ! immunodeficiency disease

[Term]
id: MONDO:0033555
name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18300", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMD73C" EXACT ABBREVIATION [OMIM:618987]
synonym: "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA" EXACT [OMIM:618987]
xref: DOID:0112062 {source="MONDO:equivalentTo"}
xref: GARD:18300 {source="MONDO:GARD"}
xref: MEDGEN:1734177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618987 {source="MONDO:equivalentTo"}
xref: UMLS:C5436550 {source="MEDGEN:1734177", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:618987"} ! immunodeficiency disease

[Term]
id: MONDO:0033556
name: muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MDDGB15" RELATED ABBREVIATION [OMIM:618992]
synonym: "muscular dystrophy, congenital, DPM3-related" RELATED [OMIM:618992]
synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15" RELATED [OMIM:618992]
xref: DOID:0112376 {source="MONDO:equivalentTo"}
xref: MEDGEN:1755743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618992 {source="MONDO:equivalentTo"}
xref: UMLS:C5436552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1755743"}
is_a: MONDO:0000172 {source="OMIM:618992"} ! muscular dystrophy-dystroglycanopathy, type B
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0013049 {source="https://orcid.org/0009-0001-2576-9655"} ! DPM3-congenital disorder of glycosylation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6974" xsd:anyURI

[Term]
id: MONDO:0033557
name: hemophagocytic lymphohistiocytosis, familial, 6
subset: gard_rare {source="GARD:16400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FHL6" RELATED ABBREVIATION [OMIM:618998]
synonym: "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6" RELATED [OMIM:618998]
synonym: "immune dysregulation and systemic hyperinflammation syndrome" EXACT [OMIM:618998, OMIM:genemap2]
xref: GARD:16400 {source="MONDO:GARD"}
xref: MEDGEN:1736944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618998 {source="MONDO:equivalentTo"}
xref: UMLS:C5436563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1736944"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015541 {source="OMIM:618998"} ! hereditary hemophagocytic lymphohistiocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033558
name: autoinflammation, immune dysregulation, and eosinophilia
subset: otar {source="MONDO:OTAR"}
synonym: "AIIDE" RELATED ABBREVIATION [OMIM:618999]
synonym: "Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia" RELATED [OMIM:618999]
synonym: "AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA" RELATED [OMIM:618999]
xref: MEDGEN:1750270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618999 {source="MONDO:equivalentTo"}
xref: UMLS:C5436572 {source="MEDGEN:1750270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033559
name: intellectual developmental disorder with seizures and language delay
subset: gard_rare {source="GARD:18527", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDDSELD" RELATED ABBREVIATION [OMIM:619000]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY" RELATED [OMIM:619000]
xref: GARD:18527 {source="MONDO:GARD"}
xref: MEDGEN:1740295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619000 {source="MONDO:equivalentTo"}
xref: UMLS:C5436574 {source="MEDGEN:1740295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033560
name: mitochondrial complex 1 deficiency, nuclear type 35
subset: gard_rare {source="GARD:16401", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC1DN35" RELATED ABBREVIATION [OMIM:619003]
synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35" RELATED [OMIM:619003]
xref: DOID:0112139 {source="MONDO:equivalentTo"}
xref: GARD:16401 {source="MONDO:GARD"}
xref: MEDGEN:1745427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619003 {source="MONDO:equivalentTo"}
xref: UMLS:C5436576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1745427"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033561
name: deeah syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "DEEAH" RELATED ABBREVIATION [OMIM:619004]
synonym: "DEEAH SYNDROME" RELATED [OMIM:619004]
synonym: "Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities" RELATED [OMIM:619004]
xref: MEDGEN:1756624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619004 {source="MONDO:equivalentTo"}
xref: UMLS:C5436579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1756624"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033562
name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
subset: gard_rare {source="GARD:18528", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDDISH" RELATED ABBREVIATION [OMIM:619005]
synonym: "neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia" EXACT [OMIM:619005, OMIM:genemap2]
synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA" RELATED [OMIM:619005]
xref: GARD:18528 {source="MONDO:GARD"}
xref: MEDGEN:1776912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619005 {source="MONDO:equivalentTo"}
xref: UMLS:C5436585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1776912"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033563
name: retinitis pigmentosa 90
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RETINITIS PIGMENTOSA 90" RELATED [OMIM:619007]
synonym: "RP90" RELATED ABBREVIATION [OMIM:619007]
xref: DOID:0112147 {source="MONDO:equivalentTo"}
xref: MEDGEN:1733837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619007 {source="MONDO:equivalentTo"}
xref: UMLS:C5436588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1733837"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019200 {source="OMIM:619007"} ! retinitis pigmentosa

[Term]
id: MONDO:0033564
name: oocyte maturation defect 8
subset: gard_rare {source="GARD:18498", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OOCYTE MATURATION DEFECT 8" RELATED [OMIM:619009]
synonym: "OOMD8" RELATED ABBREVIATION [OMIM:619009]
xref: GARD:18498 {source="MONDO:GARD"}
xref: MEDGEN:1776094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619009 {source="MONDO:equivalentTo"}
xref: UMLS:C5436597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1776094"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0014769 {source="OMIM:619009"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0033565
name: oocyte maturation defect 9
subset: gard_rare {source="GARD:18499", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "OOCYTE MATURATION DEFECT 9" RELATED [OMIM:619011]
synonym: "OOMD9" RELATED ABBREVIATION [OMIM:619011]
xref: GARD:18499 {source="MONDO:GARD"}
xref: MEDGEN:1724427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619011 {source="MONDO:equivalentTo"}
xref: UMLS:C5436599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1724427"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0014769 {source="OMIM:619011"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0033566
name: combined oxidative phosphorylation deficiency 48
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48" RELATED [OMIM:619012]
synonym: "COXPD48" RELATED ABBREVIATION [OMIM:619012]
xref: DOID:0112112 {source="MONDO:equivalentTo"}
xref: MEDGEN:1732052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619012 {source="MONDO:equivalentTo"}
xref: UMLS:C5436602 {source="MEDGEN:1732052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:619012"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033569
name: combined oxidative phosphorylation deficiency 49
subset: otar {source="MONDO:OTAR"}
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49" RELATED [OMIM:619024]
synonym: "COXPD49" RELATED ABBREVIATION [OMIM:619024]
xref: DOID:0112110 {source="MONDO:equivalentTo"}
xref: MEDGEN:1762338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619024 {source="MONDO:equivalentTo"}
xref: UMLS:C5436616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1762338"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033570
name: combined oxidative phosphorylation deficiency 50
subset: otar {source="MONDO:OTAR"}
synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50" RELATED [OMIM:619025]
synonym: "COXPD50" RELATED ABBREVIATION [OMIM:619025]
xref: DOID:0112111 {source="MONDO:equivalentTo"}
xref: MEDGEN:1753519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619025 {source="MONDO:equivalentTo"}
xref: UMLS:C5436623 {source="MEDGEN:1753519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033571
name: obsolete skeletal muscle glycogen content and metabolism quantitative trait locus
comment: Not a disease.
synonym: "Skeletal muscle glycogen content and metabolism QTL" EXACT [OMIM:619030, OMIM:genemap2]
synonym: "SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS" RELATED [OMIM:619030]
synonym: "SMGMQTL" RELATED ABBREVIATION [OMIM:619030]
xref: OMIM:619030 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2260" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033572
name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
subset: gard_rare {source="GARD:18529", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDDEBF" EXACT ABBREVIATION [OMIM:619031]
synonym: "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" EXACT [OMIM:619031]
xref: GARD:18529 {source="MONDO:GARD"}
xref: MEDGEN:1759589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619031 {source="MONDO:equivalentTo"}
xref: UMLS:C5436646 {source="MEDGEN:1759589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="OMIM:619031"} ! ALG14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI

[Term]
id: MONDO:0033613
name: neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
subset: gard_rare {source="GARD:10447", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641353"}
subset: orphanet_rare {source="Orphanet:641353"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebral palsy spastic quadriplegic" RELATED [GARD:0010447]
synonym: "cerebral palsy, spastic quadriplegic, 1" EXACT [MONDO:Lexical, OMIM:603513]
synonym: "cerebral palsy, spastic quadriplegic, type 1" EXACT [MONDORULE:1, OMIM:603513]
synonym: "CPSQ1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603513]
synonym: "infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome" EXACT [Orphanet:641353]
synonym: "NEDSWMA" EXACT ABBREVIATION [OMIM:619026]
xref: GARD:10447 {source="MONDO:GARD"}
xref: MEDGEN:1736667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567853 {source="MONDO:equivalentTo"}
xref: OMIM:603513 {source="MONDO:equivalentObsolete", source="GARD:0010447"}
xref: OMIM:619026 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: Orphanet:210141 {source="OMIM:603513"}
xref: Orphanet:641353 {source="MONDO:equivalentTo"}
xref: UMLS:C5436628 {source="MEDGEN:1736667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:603513"} ! hereditary disease
is_a: MONDO:0016215 {source="DC-OMIM:603513", source="MONDO:Redundant", source="OMIM:603513"} ! spastic quadriplegic cerebral palsy
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3807" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic" xsd:anyURI {source="GARD:0010447"}

[Term]
id: MONDO:0033614
name: spastic paraplegia 83, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631076"}
subset: orphanet_rare {source="Orphanet:631076"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive spastic paraplegia type 83" EXACT [MONDO:0858988]
synonym: "SPG83" EXACT ABBREVIATION [OMIM:619027]
xref: DOID:0112346 {source="MONDO:equivalentTo"}
xref: MEDGEN:1759445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619027 {source="MONDO:equivalentTo"}
xref: Orphanet:631076 {source="MONDO:equivalentTo"}
xref: UMLS:C5436637 {source="MEDGEN:1759445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:619027"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI

[Term]
id: MONDO:0033615
name: coenzyme q10 deficiency, primary, 9
subset: gard_rare {source="GARD:16403", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COQ10D9" EXACT ABBREVIATION [OMIM:619028]
xref: DOID:0112138 {source="MONDO:equivalentTo"}
xref: GARD:16403 {source="MONDO:GARD"}
xref: MEDGEN:1740444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619028 {source="MONDO:equivalentTo"}
xref: UMLS:C5436638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1740444"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018151 {source="OMIM:619028"} ! coenzyme Q10 deficiency
intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28722 ! COQ5

[Term]
id: MONDO:0033618
name: Vissers-Bodmer syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "VIBOS" EXACT ABBREVIATION [OMIM:619033]
xref: DOID:0081397 {source="MONDO:equivalentTo"}
xref: MEDGEN:1776566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619033 {source="MONDO:equivalentTo"}
xref: UMLS:C5436647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1776566"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033619
name: myopathy, epilepsy, and progressive cerebral atrophy
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MEPCA" EXACT ABBREVIATION [OMIM:619036]
xref: MEDGEN:1759100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619036 {source="MONDO:equivalentTo"}
xref: UMLS:C5436652 {source="MEDGEN:1759100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="OMIM:619036"} ! ALG14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI

[Term]
id: MONDO:0033620
name: myofibrillar myopathy 10
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MFM10" EXACT ABBREVIATION [OMIM:619040]
xref: DOID:0112108 {source="MONDO:equivalentTo"}
xref: MEDGEN:1769385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619040 {source="MONDO:equivalentTo"}
xref: UMLS:C5436656 {source="MEDGEN:1769385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018943 {source="OMIM:619040"} ! myofibrillar myopathy
intersection_of: MONDO:0018943 ! myofibrillar myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11480 ! SVIL

[Term]
id: MONDO:0033621
name: spinal muscular atrophy, infantile, James type
subset: otar {source="MONDO:OTAR"}
synonym: "SMAJI" EXACT ABBREVIATION [OMIM:619042]
xref: MEDGEN:1764556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619042 {source="MONDO:equivalentTo"}
xref: UMLS:C5436669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1764556"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033622
name: spermatogenic failure 44
subset: otar {source="MONDO:OTAR"}
synonym: "SPGF44" EXACT ABBREVIATION [OMIM:619044]
xref: DOID:0112109 {source="MONDO:equivalentTo"}
xref: MEDGEN:1750188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619044 {source="MONDO:equivalentTo"}
xref: UMLS:C5436678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1750188"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:619044"} ! spermatogenic failure
intersection_of: MONDO:0004983 ! spermatogenic failure
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28514 ! CEP112
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28514 ! CEP112

[Term]
id: MONDO:0033630
name: neurodevelopmental disorder with speech impairment and dysmorphic facies
subset: gard_rare {source="GARD:18530", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDSID" EXACT ABBREVIATION [OMIM:619056]
xref: DOID:0070417 {source="MONDO:equivalentTo"}
xref: GARD:18530 {source="MONDO:GARD"}
xref: MEDGEN:1758434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619056 {source="MONDO:equivalentTo"}
xref: UMLS:C5436699 {source="MEDGEN:1758434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0033631
name: combined oxidative phosphorylation deficiency 51
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "COXPD51" EXACT ABBREVIATION [OMIM:619057]
xref: DOID:0112137 {source="MONDO:equivalentTo"}
xref: MEDGEN:1757992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619057 {source="MONDO:equivalentTo"}
xref: UMLS:C5436703 {source="MEDGEN:1757992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:619057"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24717 ! PTCD3

[Term]
id: MONDO:0033635
name: mitochondrial complex 4 deficiency, nuclear type 3
subset: gard_rare {source="GARD:16404", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN3" EXACT ABBREVIATION [OMIM:619046]
synonym: "mitochondrial complex IV deficiency, nuclear type 3" EXACT [OMIM:619046, OMIM:genemap2]
xref: DOID:0070492 {source="MONDO:equivalentTo"}
xref: GARD:16404 {source="MONDO:GARD"}
xref: MEDGEN:1764816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619046 {source="MONDO:equivalentTo"}
xref: UMLS:C5436682 {source="MEDGEN:1764816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619046"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033636
name: mitochondrial complex 4 deficiency, nuclear type 4
subset: gard_rare {source="GARD:16405", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN4" EXACT ABBREVIATION [OMIM:619048]
synonym: "mitochondrial complex IV deficiency, nuclear type 4" EXACT [OMIM:619048, OMIM:genemap2]
xref: DOID:0070493 {source="MONDO:equivalentTo"}
xref: GARD:16405 {source="MONDO:GARD"}
xref: MEDGEN:1748100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619048 {source="MONDO:equivalentTo"}
xref: UMLS:C5436683 {source="MEDGEN:1748100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619048"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033637
name: mitochondrial complex 4 deficiency, nuclear type 7
subset: gard_rare {source="GARD:16406", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN7" EXACT ABBREVIATION [OMIM:619051]
synonym: "mitochondrial complex IV deficiency, nuclear type 7" EXACT [OMIM:619051, OMIM:genemap2]
xref: DOID:0070494 {source="MONDO:equivalentTo"}
xref: GARD:16406 {source="MONDO:GARD"}
xref: MEDGEN:1754683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619051 {source="MONDO:equivalentTo"}
xref: UMLS:C5436685 {source="MEDGEN:1754683", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619051"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033638
name: mitochondrial complex 4 deficiency, nuclear type 8
subset: gard_rare {source="GARD:16407", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN8" EXACT ABBREVIATION [OMIM:619052]
synonym: "mitochondrial complex IV deficiency, nuclear type 8" EXACT [OMIM:619052, OMIM:genemap2]
xref: DOID:0070495 {source="MONDO:equivalentTo"}
xref: GARD:16407 {source="MONDO:GARD"}
xref: MEDGEN:1765544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619052 {source="MONDO:equivalentTo"}
xref: UMLS:C5436689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1765544"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619052"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033639
name: mitochondrial complex 4 deficiency, nuclear type 10
subset: gard_rare {source="GARD:16408", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN10" EXACT ABBREVIATION [OMIM:619053]
synonym: "mitochondrial complex IV deficiency, nuclear type 10" EXACT [OMIM:619053, OMIM:genemap2]
xref: DOID:0070496 {source="MONDO:equivalentTo"}
xref: GARD:16408 {source="MONDO:GARD"}
xref: MEDGEN:1746545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619053 {source="MONDO:equivalentTo"}
xref: UMLS:C5436692 {source="MEDGEN:1746545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619053"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033640
name: vitamin D-dependent rickets, type 3
subset: gard_rare {source="GARD:18171", source="MONDO:GARD"}
subset: rare
synonym: "VDDR3" EXACT ABBREVIATION [OMIM:619073]
xref: GARD:18171 {source="MONDO:GARD"}
xref: MEDGEN:1725534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619073 {source="MONDO:equivalentTo"}
xref: UMLS:C5436733 {source="MONDO:equivalentTo", source="MEDGEN:1725534", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0024299 {source="OMIM:619073"} ! vitamin D-dependent rickets

[Term]
id: MONDO:0033641
name: cleft palate, proliferative retinopathy, and developmental delay
synonym: "CPPRDD" EXACT ABBREVIATION [OMIM:619074]
xref: MEDGEN:1765503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619074 {source="MONDO:equivalentTo"}
xref: UMLS:C5436739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1765503"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033642
name: neurodevelopmental disorder with alopecia and brain abnormalities
subset: gard_rare {source="GARD:17987", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:544488"}
subset: orphanet_rare {source="Orphanet:544488"}
subset: rare
synonym: "Bachmann-Bupp syndrome" EXACT [OMIM:619075, OMIM:genemap2]
synonym: "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome" EXACT [MONDO:0034104]
synonym: "NEDABA" EXACT ABBREVIATION [OMIM:619075]
xref: GARD:17987 {source="MONDO:GARD"}
xref: MEDGEN:1775930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619075 {source="MONDO:equivalentTo"}
xref: Orphanet:544488 {source="MONDO:equivalentTo"}
xref: UMLS:C5436741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1775930"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism
relationship: excluded_subClassOf MONDO:0017356 {source="Orphanet:544488", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of ornithine metabolism
relationship: RO:0004001 http://identifiers.org/hgnc/8109 {source="Orphanet:544488"} ! has material basis in gain of function germline mutation in ODC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5336" xsd:anyURI

[Term]
id: MONDO:0033643
name: inflammatory bowel disease 30
subset: otar {source="MONDO:OTAR"}
synonym: "IBD30" EXACT ABBREVIATION [OMIM:619079]
synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT [OMIM:619079, OMIM:genemap2]
xref: DOID:0112154 {source="MONDO:equivalentTo"}
xref: MEDGEN:1737985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619079 {source="MONDO:equivalentTo"}
xref: UMLS:C5436750 {source="MEDGEN:1737985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005265 {source="OMIM:619079"} ! inflammatory bowel disease
intersection_of: MONDO:0005265 ! inflammatory bowel disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17057 ! CARD8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033644
name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
subset: gard_rare {source="GARD:18383", source="MONDO:GARD"}
subset: rare
synonym: "MRCS1" EXACT ABBREVIATION [OMIM:619082]
xref: GARD:18383 {source="MONDO:GARD"}
xref: MEDGEN:1755099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619082 {source="MONDO:equivalentTo"}
xref: UMLS:C5436769 {source="MEDGEN:1755099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033645
name: mitochondrial complex 4 deficiency, nuclear type 11
subset: gard_rare {source="GARD:16409", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN11" EXACT ABBREVIATION [OMIM:619054]
synonym: "mitochondrial complex IV deficiency, nuclear type 11" EXACT [OMIM:619054, OMIM:genemap2]
xref: DOID:0070497 {source="MONDO:equivalentTo"}
xref: GARD:16409 {source="MONDO:GARD"}
xref: MEDGEN:1760275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619054 {source="MONDO:equivalentTo"}
xref: UMLS:C5436694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1760275"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619054"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033646
name: mitochondrial complex 4 deficiency, nuclear type 12
subset: gard_rare {source="GARD:16410", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN12" EXACT ABBREVIATION [OMIM:619055]
synonym: "mitochondrial complex IV deficiency, nuclear type 12" EXACT [OMIM:619055, OMIM:genemap2]
xref: DOID:0070498 {source="MONDO:equivalentTo"}
xref: GARD:16410 {source="MONDO:GARD"}
xref: MEDGEN:1745691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619055 {source="MONDO:equivalentTo"}
xref: UMLS:C5436695 {source="MEDGEN:1745691", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619055"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033649
name: mitochondrial complex 4 deficiency, nuclear type 14
subset: gard_rare {source="GARD:16411", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN14" EXACT ABBREVIATION [OMIM:619058]
synonym: "mitochondrial complex IV deficiency, nuclear type 14" EXACT [OMIM:619058, OMIM:genemap2]
xref: DOID:0070499 {source="MONDO:equivalentTo"}
xref: GARD:16411 {source="MONDO:GARD"}
xref: MEDGEN:1763505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619058 {source="MONDO:equivalentTo"}
xref: UMLS:C5436710 {source="MEDGEN:1763505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619058"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033650
name: mitochondrial complex 4 deficiency, nuclear type 15
subset: gard_rare {source="GARD:16412", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN15" EXACT ABBREVIATION [OMIM:619059]
synonym: "mitochondrial complex IV deficiency, nuclear type 15" EXACT [OMIM:619059, OMIM:genemap2]
xref: DOID:0070500 {source="MONDO:equivalentTo"}
xref: GARD:16412 {source="MONDO:GARD"}
xref: MEDGEN:1773430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619059 {source="MONDO:equivalentTo"}
xref: UMLS:C5436712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773430"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619059"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033651
name: mitochondrial complex 4 deficiency, nuclear type 16
subset: gard_rare {source="GARD:16413", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN16" EXACT ABBREVIATION [OMIM:619060]
synonym: "mitochondrial complex IV deficiency, nuclear type 16" EXACT [OMIM:619060, OMIM:genemap2]
xref: DOID:0070501 {source="MONDO:equivalentTo"}
xref: GARD:16413 {source="MONDO:GARD"}
xref: MEDGEN:1762514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619060 {source="MONDO:equivalentTo"}
xref: UMLS:C5436714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1762514"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619060"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033652
name: mitochondrial complex 4 deficiency, nuclear type 17
subset: gard_rare {source="GARD:16414", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN17" EXACT ABBREVIATION [OMIM:619061]
synonym: "mitochondrial complex IV deficiency, nuclear type 17" EXACT [OMIM:619061, OMIM:genemap2]
xref: DOID:0070502 {source="MONDO:equivalentTo"}
xref: GARD:16414 {source="MONDO:GARD"}
xref: MEDGEN:1730423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619061 {source="MONDO:equivalentTo"}
xref: UMLS:C5436718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1730423"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619061"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033653
name: mitochondrial complex 4 deficiency, nuclear type 18
subset: gard_rare {source="GARD:16415", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN18" EXACT ABBREVIATION [OMIM:619062]
synonym: "mitochondrial complex IV deficiency, nuclear type 18" EXACT [OMIM:619062, OMIM:genemap2]
xref: DOID:0070503 {source="MONDO:equivalentTo"}
xref: GARD:16415 {source="MONDO:GARD"}
xref: MEDGEN:1752734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619062 {source="MONDO:equivalentTo"}
xref: UMLS:C5436720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1752734"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619062"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033654
name: mitochondrial complex 4 deficiency, nuclear type 19
subset: gard_rare {source="GARD:16416", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN19" EXACT ABBREVIATION [OMIM:619063]
synonym: "mitochondrial complex IV deficiency, nuclear type 19" EXACT [OMIM:619063, OMIM:genemap2]
xref: DOID:0070504 {source="MONDO:equivalentTo"}
xref: GARD:16416 {source="MONDO:GARD"}
xref: MEDGEN:1729504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619063 {source="MONDO:equivalentTo"}
xref: UMLS:C5436723 {source="MEDGEN:1729504", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619063"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033655
name: mitochondrial complex 4 deficiency, nuclear type 20
subset: gard_rare {source="GARD:16417", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN20" EXACT ABBREVIATION [OMIM:619064]
synonym: "mitochondrial complex IV deficiency, nuclear type 20" EXACT [OMIM:619064, OMIM:genemap2]
xref: DOID:0070505 {source="MONDO:equivalentTo"}
xref: GARD:16417 {source="MONDO:GARD"}
xref: MEDGEN:1771040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619064 {source="MONDO:equivalentTo"}
xref: UMLS:C5436726 {source="MEDGEN:1771040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619064"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033656
name: mitochondrial complex 4 deficiency, nuclear type 21
subset: gard_rare {source="GARD:16418", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MC4DN21" EXACT ABBREVIATION [OMIM:619065]
synonym: "mitochondrial complex IV deficiency, nuclear type 21" EXACT [OMIM:619065, OMIM:genemap2]
xref: DOID:0070506 {source="MONDO:equivalentTo"}
xref: GARD:16418 {source="MONDO:GARD"}
xref: MEDGEN:1732562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619065 {source="MONDO:equivalentTo"}
xref: UMLS:C5436727 {source="MEDGEN:1732562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0033885 {source="OMIM:619065"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033657
name: leukodystrophy, hypomyelinating, 20
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD20" EXACT ABBREVIATION [OMIM:619071]
xref: DOID:0112153 {source="MONDO:equivalentTo"}
xref: MEDGEN:1765130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619071 {source="MONDO:equivalentTo"}
xref: UMLS:C5436730 {source="MEDGEN:1765130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019046 {source="OMIM:619071"} ! leukodystrophy

[Term]
id: MONDO:0033658
name: neurodevelopmental disorder with seizures and brain atrophy
subset: gard_rare {source="GARD:18531", source="MONDO:GARD"}
subset: rare
synonym: "NEDSEBA" EXACT ABBREVIATION [OMIM:619072]
xref: GARD:18531 {source="MONDO:GARD"}
xref: MEDGEN:1748227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619072 {source="MONDO:equivalentTo"}
xref: UMLS:C5436732 {source="MONDO:equivalentTo", source="MEDGEN:1748227", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0033662
name: neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
subset: gard_rare {source="GARD:18532", source="MONDO:GARD"}
subset: rare
synonym: "NEDMISB" EXACT ABBREVIATION [OMIM:619076]
xref: GARD:18532 {source="MONDO:GARD"}
xref: MEDGEN:1755716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619076 {source="MONDO:equivalentTo"}
xref: UMLS:C5436747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1755716"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0033664
name: Kilquist syndrome
def: "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis." [OMIM:619080, PMID:30740830, PMID:32754646]
subset: otar {source="MONDO:OTAR"}
synonym: "KILQS" EXACT ABBREVIATION [OMIM:619080]
xref: MEDGEN:1742639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619080 {source="MONDO:equivalentTo"}
xref: UMLS:C5436756 {source="MEDGEN:1742639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033665
name: hearing loss, autosomal dominant 78
subset: gard_rare {source="GARD:18156", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, autosomal dominant 78" NARROW [OMIM:619081, OMIM:genemap2]
synonym: "DFNA78" NARROW ABBREVIATION [OMIM:619081]
xref: DOID:0112159 {source="MONDO:equivalentTo"}
xref: GARD:18156 {source="MONDO:GARD"}
xref: MEDGEN:1777362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619081 {source="MONDO:equivalentTo"}
xref: UMLS:C5436768 {source="MEDGEN:1777362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019587 {source="OMIM:619081"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033667
name: Delpire-McNeill syndrome
subset: gard_rare {source="GARD:18533", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DELMNES" EXACT ABBREVIATION [OMIM:619083]
xref: GARD:18533 {source="MONDO:GARD"}
xref: MEDGEN:1725056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619083 {source="MONDO:equivalentTo"}
xref: UMLS:C5436771 {source="MEDGEN:1725056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0033668
name: hearing loss, autosomal dominant 79
subset: gard_rare {source="GARD:18157", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal dominant 79" NARROW [OMIM:619086, OMIM:genemap2]
synonym: "DFNA79" NARROW ABBREVIATION [OMIM:619086]
xref: DOID:0112160 {source="MONDO:equivalentTo"}
xref: GARD:18157 {source="MONDO:GARD"}
xref: MEDGEN:1735338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619086 {source="MONDO:equivalentTo"}
xref: UMLS:C5436772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1735338"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019587 {source="OMIM:619086"} ! autosomal dominant nonsyndromic hearing loss
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033669
name: Noonan syndrome 13
subset: gard_rare {source="GARD:16419", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NS13" EXACT ABBREVIATION [OMIM:619087]
xref: DOID:0112161 {source="MONDO:equivalentTo"}
xref: GARD:16419 {source="MONDO:GARD"}
xref: MEDGEN:1761918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C177121 {source="MONDO:equivalentTo"}
xref: OMIM:619087 {source="MONDO:equivalentTo"}
xref: UMLS:C5436773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761918"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018997 {source="OMIM:619087"} ! Noonan syndrome

[Term]
id: MONDO:0033670
name: hearing loss, autosomal recessive 116
subset: gard_rare {source="GARD:22664", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "deafness, autosomal recessive 116" NARROW [OMIM:619093, OMIM:genemap2]
synonym: "DFNB116" NARROW ABBREVIATION [OMIM:619093]
xref: DOID:0112162 {source="MONDO:equivalentTo"}
xref: GARD:22664 {source="MONDO:GARD"}
xref: MEDGEN:1726617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619093 {source="MONDO:equivalentTo"}
xref: UMLS:C5436789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1726617"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:619093"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0033671
name: spermatogenic failure 45
subset: otar {source="MONDO:OTAR"}
synonym: "SPGF45" EXACT ABBREVIATION [OMIM:619094]
xref: DOID:0112163 {source="MONDO:equivalentTo"}
xref: MEDGEN:1776221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619094 {source="MONDO:equivalentTo"}
xref: UMLS:C5436791 {source="MEDGEN:1776221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:619094"} ! spermatogenic failure

[Term]
id: MONDO:0033672
name: Duane anomaly-myopathy-scoliosis syndrome
def: "Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap." [Orphanet:50817]
subset: gard_rare {source="GARD:18842", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:50817"}
subset: orphanet_rare {source="Orphanet:50817"}
subset: rare
xref: GARD:18842 {source="MONDO:GARD"}
xref: MEDGEN:928219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:50817 {source="MONDO:equivalentTo"}
xref: UMLS:C4302550 {source="MEDGEN:928219", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:50817"} ! disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0005381 {source="https://orcid.org/0000-0002-4142-7153"} ! bone disorder
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
relationship: has_characteristic HP:0000007 {source="Orphanet:50817"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0033673
name: spermatogenic failure 46
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "SPGF46" EXACT ABBREVIATION [OMIM:619095]
xref: DOID:0112164 {source="MONDO:equivalentTo"}
xref: MEDGEN:1726728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619095 {source="MONDO:equivalentTo"}
xref: UMLS:C5436799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1726728"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:619095"} ! spermatogenic failure

[Term]
id: MONDO:0033682
name: skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
subset: gard_rare {source="GARD:22070", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508533"}
subset: orphanet_rare {source="Orphanet:508533"}
subset: rare
xref: GARD:22070 {source="MONDO:GARD"}
xref: MEDGEN:1799322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:508533 {source="MONDO:equivalentTo"}
xref: UMLS:C5567899 {source="MONDO:equivalentTo", source="MEDGEN:1799322", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:508533"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015708 {source="Orphanet:508533"} ! immuno-osseous dysplasia
is_a: MONDO:0019694 {source="Orphanet:508533"} ! spondylodysplastic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3518 {source="Orphanet:508533"} ! EXTL3

[Term]
id: MONDO:0033683
name: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
subset: gard_rare {source="GARD:22071", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508542"}
subset: orphanet_rare {source="Orphanet:508542"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MYSM1 deficiency" EXACT [Orphanet:508542]
xref: GARD:22071 {source="MONDO:GARD"}
xref: MEDGEN:1799320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:508542 {source="MONDO:equivalentTo"}
xref: UMLS:C5567897 {source="MEDGEN:1799320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:508542"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015708 {source="Orphanet:508542"} ! immuno-osseous dysplasia
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation
is_a: MONDO:0019453 {source="Orphanet:508542"} ! myelodysplastic syndrome with multilineage dysplasia
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29401 {source="Orphanet:508542"} ! MYSM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0033717
name: congenital cerebellar ataxia due to RNU12 mutation
def: "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume." [Orphanet:512260]
subset: gard_rare {source="GARD:22075", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:512260"}
subset: orphanet_rare {source="Orphanet:512260"}
subset: rare
xref: GARD:22075 {source="MONDO:GARD"}
xref: MEDGEN:1799317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:512260 {source="MONDO:equivalentTo"}
xref: UMLS:C5567894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799317"}
is_a: MONDO:0020043 {source="Orphanet:512260"} ! autosomal recessive congenital cerebellar ataxia
intersection_of: MONDO:0020043 ! autosomal recessive congenital cerebellar ataxia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19380 ! RNU12
relationship: has_characteristic HP:0000007 {source="Orphanet:512260"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19380 {source="Orphanet:512260"} ! RNU12

[Term]
id: MONDO:0033809
name: isolated blepharochalasis
subset: gard_rare {source="GARD:22124", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519390"}
subset: orphanet_rare {source="Orphanet:519390"}
subset: rare
xref: GARD:22124 {source="MONDO:GARD"}
xref: icd11.foundation:583527617 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:519390"}
xref: MEDGEN:1801812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519390 {source="MONDO:equivalentTo"}
xref: UMLS:C5681341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801812"}
is_a: MONDO:0000001 {source="Orphanet:519390"} ! disease
is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0033810
name: isolated iridoschisis
subset: gard_rare {source="GARD:22125", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519392"}
subset: orphanet_rare {source="Orphanet:519392"}
subset: rare
xref: GARD:22125 {source="MONDO:GARD"}
xref: icd11.foundation:1870961422 {source="Orphanet:519392", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:509720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519392 {source="MONDO:equivalentTo"}
xref: UMLS:C0154919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509720"}
is_a: MONDO:0000001 {source="Orphanet:519392"} ! disease
is_a: MONDO:0019503 {source="Orphanet:519392"} ! anterior segment dysgenesis

[Term]
id: MONDO:0033816
name: thygeson superficial punctate keratopathy
def: "An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease." [https://eyewiki.aao.org/Thygeson%C2%B4s_superficial_punctate_keratitis, https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:22131", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519406"}
subset: orphanet_rare {source="Orphanet:519406"}
subset: rare
xref: GARD:22131 {source="MONDO:GARD"}
xref: MEDGEN:1638070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519406 {source="MONDO:equivalentTo"}
xref: UMLS:C4551636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638070"}
is_a: MONDO:0005328 ! eye disorder
relationship: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0033818
name: Terrien marginal degeneration
def: "A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism" [https://eyewiki.aao.org/Terrien%27s_Marginal_Degeneration, https://orcid.org/0000-0002-6601-2165]
subset: gard_rare {source="GARD:22133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519410"}
subset: orphanet_rare {source="Orphanet:519410"}
subset: rare
synonym: "Terrien's marginal degeneration" EXACT [https://eyewiki.aao.org/Terrien%27s_Marginal_Degeneration]
xref: GARD:22133 {source="MONDO:GARD"}
xref: MEDGEN:543256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519410 {source="MONDO:equivalentTo"}
xref: UMLS:C0271283 {source="MEDGEN:543256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 ! eye disorder
relationship: disease_has_location UBERON:0000964 ! cornea

[Term]
id: MONDO:0033821
name: fungal keratitis
subset: gard_rare {source="GARD:22134", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519930"}
subset: orphanet_rare {source="Orphanet:519930"}
subset: rare
xref: GARD:22134 {source="MONDO:GARD"}
xref: MEDGEN:687913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128370 {source="MONDO:equivalentTo"}
xref: Orphanet:519930 {source="MONDO:equivalentTo"}
xref: UMLS:C1262117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:687913"}
is_a: MONDO:0000001 {source="Orphanet:519930"} ! disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
intersection_of: disease_has_inflammation_site UBERON:0000964 ! cornea

[Term]
id: MONDO:0033838
name: radiation-induced plexopathy
subset: gard_rare {source="GARD:22137", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521123"}
subset: orphanet_rare {source="Orphanet:521123"}
subset: rare
xref: GARD:22137 {source="MONDO:GARD"}
xref: MEDGEN:1809151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:521123 {source="MONDO:equivalentTo"}
xref: UMLS:C5681446 {source="MONDO:equivalentTo", source="MEDGEN:1809151", source="MONDO:MEDGEN"}
is_a: MONDO:0015923 {source="Orphanet:521123"} ! acquired peripheral neuropathy
intersection_of: MONDO:0024432 ! nerve plexus disorder
intersection_of: realized_in_response_to ECTO:0000002 ! exposure to electromagnetic radiation

[Term]
id: MONDO:0033839
name: osteoradionecrosis of the mandible
subset: gard_rare {source="GARD:22138", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521127"}
subset: orphanet_rare {source="Orphanet:521127"}
subset: rare
xref: GARD:22138 {source="MONDO:GARD"}
xref: MEDGEN:713081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:521127 {source="MONDO:equivalentTo"}
xref: UMLS:C1290728 {source="MEDGEN:713081", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005380 {source="Orphanet:521127"} ! osteonecrosis
is_a: MONDO:0043735 {source="Orphanet:521127"} ! osteoradionecrosis
relationship: disease_has_location UBERON:0001684 ! mandible
relationship: excluded_subClassOf MONDO:0043459 {source="Orphanet:521127", source="https://orcid.org/0000-0001-5208-3432"} ! radiation-induced disorder

[Term]
id: MONDO:0033850
name: autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
subset: gard_rare {source="GARD:22143", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521411"}
subset: orphanet_rare {source="Orphanet:521411"}
subset: rare
xref: GARD:22143 {source="MONDO:GARD"}
xref: MEDGEN:1800474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:521411 {source="MONDO:equivalentTo"}
xref: UMLS:C5569051 {source="MEDGEN:1800474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017762 {source="Orphanet:521411"} ! disorder of copper metabolism
relationship: has_characteristic HP:0000007 {source="Orphanet:521411"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 {source="Orphanet:521411"} ! SCO2

[Term]
id: MONDO:0033853
name: congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: gard_rare {source="GARD:22144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521432"}
subset: orphanet_rare {source="Orphanet:521432"}
subset: rare
xref: GARD:22144 {source="MONDO:GARD"}
xref: MEDGEN:1814478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:521432 {source="MONDO:equivalentTo"}
xref: UMLS:C5681444 {source="MEDGEN:1814478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:521432"} ! disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2649 {source="Orphanet:521432"} ! CYP51A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0033856
name: LAMA5-related multisystemic syndrome
def: "A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder." [Orphanet:521450]
subset: gard_rare {source="GARD:22146", source="MONDO:GARD"}
subset: n_of_one
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521450"}
subset: orphanet_rare {source="Orphanet:521450"}
subset: rare
xref: GARD:22146 {source="MONDO:GARD"}
xref: MEDGEN:1806009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:521450 {source="MONDO:equivalentTo"}
xref: UMLS:C5681442 {source="MEDGEN:1806009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:521450"} ! disease
is_a: MONDO:0005554 {source="Orphanet:521450"} ! rheumatic disorder
relationship: has_characteristic HP:0000006 {source="Orphanet:521450"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6485 {source="Orphanet:521450"} ! LAMA5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3601" xsd:anyURI

[Term]
id: MONDO:0033862
name: primary autoimmune enteropathy
subset: gard_rare {source="GARD:22147", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:522037"}
subset: orphanet_rare {source="Orphanet:522037"}
subset: rare
xref: GARD:22147 {source="MONDO:GARD"}
xref: MEDGEN:1842843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:522037 {source="MONDO:equivalentTo"}
xref: UMLS:C5681441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842843"}
is_a: MONDO:0000001 {source="Orphanet:522037"} ! disease
is_a: MONDO:0019787 {source="Orphanet:522037"} ! autoimmune enteropathy

[Term]
id: MONDO:0033864
name: infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
subset: gard_rare {source="GARD:17962", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:522077"}
subset: orphanet_rare {source="Orphanet:522077"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Baker-Gordon syndrome" EXACT [OMIM:618218, OMIM:genemap2]
xref: GARD:17962 {source="MONDO:GARD"}
xref: MEDGEN:1648431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618218 {source="MONDO:equivalentTo", source="Orphanet:522077"}
xref: Orphanet:522077 {source="MONDO:equivalentTo"}
xref: UMLS:C4748715 {source="MEDGEN:1648431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0005395 {source="MONDO:0044636-obsoleted"} ! movement disorder
relationship: disease_has_feature HP:0000486 ! Strabismus
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11509 {source="Orphanet:522077"} ! SYT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0033885
name: mitochondrial complex IV deficiency, nuclear-type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:220110 {source="MONDO:equivalentTo"}
is_a: MONDO:0000066 {source="OMIMPS:220110"} ! mitochondrial complex deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:220110"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0033900
name: obsolete rare capillary malformation with associated anomalies
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033925
name: pediatric-onset Graves disease
subset: gard_rare {source="GARD:22190", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:525731"}
subset: orphanet_rare {source="Orphanet:525731"}
subset: rare
xref: GARD:22190 {source="MONDO:GARD"}
xref: MEDGEN:1842979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:525731 {source="MONDO:equivalentTo"}
xref: UMLS:C5680179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842979"}
intersection_of: MONDO:0005364 ! Graves disease
intersection_of: has_characteristic HP:0410280 ! Pediatric onset

[Term]
id: MONDO:0033926
name: prepubertal anorexia nervosa
subset: gard_rare {source="GARD:22191", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:525738"}
subset: orphanet_rare {source="Orphanet:525738"}
subset: rare
xref: GARD:22191 {source="MONDO:GARD"}
xref: MEDGEN:1799990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:525738 {source="MONDO:equivalentTo"}
xref: UMLS:C5568567 {source="MEDGEN:1799990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
is_a: MONDO:0005351 {source="https://orcid.org/0000-0001-5208-3432"} ! anorexia nervosa
relationship: excluded_subClassOf MONDO:0015889 {source="Orphanet:525738", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare hypothalamic or pituitary disease

[Term]
id: MONDO:0033927
name: obsolete genetic complex vascular malformation with associated anomalies
subset: ordo_group_of_disorders {source="Orphanet:459537"}
xref: GARD:21922 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:459537 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0033938
name: acute radiation syndrome
subset: gard_rare {source="GARD:21896", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:454831"}
subset: orphanet_rare {source="Orphanet:454831"}
subset: rare
synonym: "Acute radiation sickness" EXACT [Orphanet:454831]
xref: GARD:21896 {source="MONDO:GARD"}
xref: ICD10CM:T66 {source="Orphanet:454831"}
xref: MESH:D054508 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: Orphanet:454831 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_arises_from_feature MONDO:0043458 {source="https://orcid.org/0000-0001-5208-3432"} ! radiation injury
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0033939
name: obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
comment: duplicate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2461" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0060564

[Term]
id: MONDO:0033946
name: hereditary angioedema with C1Inh deficiency
def: "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." [MESH:D056829]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22194", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:528623"}
subset: orphanet_rare {source="Orphanet:528623"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "angioedema, hereditary, 1 and 2" EXACT [OMIM:106100, OMIM:genemap2]
synonym: "angioedema, hereditary, type 1" RELATED [OMIM:106100]
synonym: "angioedema, hereditary, type 1/2" EXACT [MONDO:0007117]
synonym: "angioedema, hereditary, type 2" RELATED [OMIM:106100]
synonym: "angioedema, hereditary, type I" RELATED [MONDO:Lexical, OMIM:106100]
synonym: "angioneurotic edema, hereditary" RELATED [OMIM:106100]
synonym: "C1 esterase inhibitor, deficiency of" RELATED [OMIM:106100]
synonym: "HAE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106100]
xref: DOID:0080939 {source="MONDO:equivalentTo"}
xref: GARD:22194 {source="MONDO:GARD"}
xref: MEDGEN:1812520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056829
xref: OMIM:106100 {source="MONDO:equivalentTo"}
xref: Orphanet:100050 {source="OMIM:106100"}
xref: Orphanet:100051 {source="OMIM:106100"}
xref: Orphanet:528623 {source="MONDO:equivalentTo"}
xref: Orphanet:91378 {source="OMIM:106100"}
xref: UMLS:C4552294 {source="MEDGEN:1812520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019623 {source="DC-OMIM:106100", source="Orphanet:528623"} ! hereditary angioedema
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1228 {source="MONDO:mim2gene_medgen"} ! SERPING1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0033947
name: obsolete hereditary angioedema with normal C1Inh
subset: otar {source="MONDO:OTAR"}
xref: GARD:22195 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7581" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100567

[Term]
id: MONDO:0033948
name: acquired angioedema with C1Inh deficiency
subset: gard_rare {source="GARD:22196", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:528663"}
subset: orphanet_rare {source="Orphanet:528663"}
subset: rare
xref: GARD:22196 {source="MONDO:GARD"}
xref: Orphanet:528663 {source="MONDO:equivalentTo"}
is_a: MONDO:0000001 {source="Orphanet:528663"} ! disease
is_a: MONDO:0019624 {source="Orphanet:528663"} ! acquired angioedema

[Term]
id: MONDO:0033954
name: monoclonal mast cell activation syndrome
def: "Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected." [PMID:23409940]
subset: gard_rare {source="GARD:12980", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529468"}
subset: orphanet_rare {source="Orphanet:529468"}
subset: rare
synonym: "primary mast cell activation syndrome" EXACT [MONDO:0100005]
synonym: "primary MCAS" EXACT [PMID:23409940]
xref: GARD:12980 {source="MONDO:GARD"}
xref: MEDGEN:1672509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C181652 {source="MONDO:equivalentTo"}
xref: Orphanet:529468 {source="MONDO:equivalentTo"}
xref: UMLS:C4267893 {source="MEDGEN:1672509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:529468"} ! disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005046 {source="NCIT:C181652", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0100004 {source="https://orcid.org/0000-0001-5208-3432"} ! mast cell activation syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7326" xsd:anyURI

[Term]
id: MONDO:0033967
name: obsolete immune dysregulation with inflammatory bowel disease
comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency due to a defect in adaptive immunity'
subset: ordo_group_of_disorders {source="Orphanet:529974"}
xref: GARD:22203 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:529974 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI
is_obsolete: true
consider: MONDO:0015823

[Term]
id: MONDO:0033968
name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
subset: gard_rare {source="GARD:22204", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529977"}
subset: orphanet_rare {source="Orphanet:529977"}
subset: rare
xref: GARD:22204 {source="MONDO:GARD"}
xref: MEDGEN:1799956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529977 {source="MONDO:equivalentTo"}
xref: UMLS:C5568533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799956"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
relationship: has_characteristic HP:0000007 {source="Orphanet:529977"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0033969
name: inflammatory bowel disease-recurrent sinopulmonary infections syndrome
subset: gard_rare {source="GARD:22205", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529980"}
subset: orphanet_rare {source="Orphanet:529980"}
subset: rare
xref: GARD:22205 {source="MONDO:GARD"}
xref: MEDGEN:1799955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529980 {source="MONDO:equivalentTo"}
xref: UMLS:C5568532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799955"}
is_a: MONDO:0000001 {source="Orphanet:529980"} ! disease
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity

[Term]
id: MONDO:0033980
name: RELA fusion-positive ependymoma
subset: gard_rare {source="GARD:22210", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:530792"}
subset: orphanet_rare {source="Orphanet:530792"}
subset: rare
xref: DOID:0080892 {source="MONDO:equivalentTo"}
xref: GARD:22210 {source="MONDO:GARD"}
xref: MEDGEN:927113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:530792 {source="MONDO:equivalentTo"}
xref: UMLS:C4289581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927113"}
is_a: MONDO:0000001 {source="Orphanet:530792"} ! disease
is_a: MONDO:0003266 {source="Orphanet:530792"} ! ependymal tumor

[Term]
id: MONDO:0033981
name: obsolete krt1-related diffuse nonepidermolytic keratoderma
is_obsolete: true
replaced_by: MONDO:0010962

[Term]
id: MONDO:0034021
name: spondylodysplastic Ehlers-Danlos syndrome
subset: gard_rare {source="GARD:22214", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:536471"}
subset: orphanet_rare {source="Orphanet:536471"}
subset: rare
synonym: "spondylodysplastic EDS" EXACT [Orphanet:536471]
xref: GARD:22214 {source="MONDO:GARD"}
xref: MEDGEN:1814455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:536471 {source="MONDO:equivalentTo"}
xref: UMLS:C5680154 {source="MEDGEN:1814455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:536471"} ! disease
is_a: MONDO:0020066 {source="Orphanet:536471"} ! Ehlers-Danlos syndrome

[Term]
id: MONDO:0034022
name: Bethlem myopathy 2
subset: gard_rare {source="GARD:16121", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:536516"}
subset: orphanet_rare {source="Orphanet:536516"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bethlem myopathy 2" EXACT [MONDO:Lexical, OMIM:616471]
synonym: "Bethlem myopathy caused by mutation in COL12A1" EXACT [MONDO:design_pattern]
synonym: "Bethlem myopathy type 2" EXACT [MONDORULE:1, OMIM:616471]
synonym: "BTHLM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616471]
synonym: "COL12A1 Bethlem myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "EDS, myopathic type" EXACT [OMIM:616471]
synonym: "Ehlers-Danlos syndrome, myopathic type" EXACT [OMIM:616471]
synonym: "myopathic EDS" EXACT [Orphanet:536516]
synonym: "myopathic Ehlers-Danlos syndrome" EXACT [Orphanet:536516]
xref: GARD:16121 {source="MONDO:GARD"}
xref: MEDGEN:907426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616471 {source="MONDO:equivalentTo"}
xref: Orphanet:536516 {source="MONDO:equivalentTo"}
xref: Orphanet:610 {source="OMIM:616471"}
xref: UMLS:C4225313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907426"}
is_a: MONDO:0008029 {source="MONDO:Redundant", source="OMIM:616471", source="Orphanet:610/btnt"} ! Bethlem myopathy
is_a: MONDO:0019950 {source="Orphanet:536516"} ! congenital muscular dystrophy
is_a: MONDO:0020066 {source="Orphanet:536516"} ! Ehlers-Danlos syndrome
intersection_of: MONDO:0008029 ! Bethlem myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 ! COL12A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 {source="MONDO:mim2gene_medgen", source="Orphanet:536516"} ! COL12A1

[Term]
id: MONDO:0034024
name: obsolete kyphoscoliotic Ehlers-Danlos syndrome
def: "OBSOLETE. A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype." [https://orcid.org/0000-0001-5493-2602, Orphanet:536545]
subset: ordo_disorder {source="Orphanet:536545"}
subset: otar {source="MONDO:OTAR"}
synonym: "EDS VI" EXACT ABBREVIATION [Orphanet:536545]
synonym: "kyphoscoliotic EDS" EXACT [Orphanet:536545]
xref: GARD:2083 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:1200649 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201259 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:536545 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4918" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034028
name: obsolete symptomatic form of hemochromatosis type 1
def: "OBSOLETE. Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus." [Orphanet:465508]
subset: ordo_disorder {source="Orphanet:465508"}
xref: GARD:10417 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:465508 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeClinicalModifier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034039
name: obsolete genetic hemoglobinopathy
subset: ordo_group_of_disorders {source="Orphanet:466066"}
xref: GARD:21934 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:466066 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034041
name: congenital axonal neuropathy with encephalopathy
def: "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia." [Orphanet:538101]
subset: gard_rare {source="GARD:22218", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:538101"}
subset: orphanet_rare {source="Orphanet:538101"}
subset: rare
xref: GARD:22218 {source="MONDO:GARD"}
xref: MEDGEN:1814475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:538101 {source="MONDO:equivalentTo"}
xref: UMLS:C5681314 {source="MEDGEN:1814475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004183 {source="https://orcid.org/0000-0001-5208-3432"} ! axonal neuropathy
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0034054
name: severe combined immunodeficiency due to CD70 deficiency
subset: gard_rare {source="GARD:17978", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:538958"}
subset: orphanet_rare {source="Orphanet:538958"}
subset: rare
synonym: "lymphoproliferative syndrome 3" EXACT [OMIM:618261, OMIM:genemap2]
xref: GARD:17978 {source="MONDO:GARD"}
xref: MEDGEN:1799982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618261 {source="Orphanet:538958", source="MONDO:equivalentTo"}
xref: Orphanet:538958 {source="MONDO:equivalentTo"}
xref: UMLS:C5568559 {source="MONDO:equivalentTo", source="MEDGEN:1799982", source="MONDO:MEDGEN"}
is_a: MONDO:0016537 {source="Orphanet:538958", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome
intersection_of: MONDO:0015974 ! severe combined immunodeficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11937 ! CD70
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11937 {source="Orphanet:538958"} ! CD70
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0034082
name: obsolete necrobiosis lipoidica
is_obsolete: true
replaced_by: MONDO:0006583

[Term]
id: MONDO:0034092
name: optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
subset: gard_rare {source="GARD:22231", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:543470"}
subset: orphanet_rare {source="Orphanet:543470"}
subset: rare
xref: GARD:22231 {source="MONDO:GARD"}
xref: MEDGEN:1807322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:543470 {source="MONDO:equivalentTo"}
xref: UMLS:C5681321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807322"}
is_a: MONDO:0000001 {source="Orphanet:543470"} ! disease
is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy
is_a: MONDO:0044970 ! mitochondrial disease
relationship: has_characteristic HP:0000007 {source="Orphanet:543470"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3642 {source="Orphanet:543470"} ! FDXR

[Term]
id: MONDO:0034099
name: SYNGAP1-related developmental and epileptic encephalopathy
def: "A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD)." [Orphanet:544254]
subset: gard_rare {source="GARD:22232", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:544254"}
subset: orphanet_rare {source="Orphanet:544254"}
subset: rare
xref: GARD:22232 {source="MONDO:GARD"}
xref: MEDGEN:1810512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:544254 {source="MONDO:equivalentTo"}
xref: UMLS:C5680163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810512"}
is_a: MONDO:0020071 {source="Orphanet:544254"} ! infantile epilepsy syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11497 {source="Orphanet:544254"} ! SYNGAP1

[Term]
id: MONDO:0034103
name: infection-related hemolytic uremic syndrome
subset: gard_rare {source="GARD:22234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:544482"}
subset: orphanet_rare {source="Orphanet:544482"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:22234 {source="MONDO:GARD"}
xref: MEDGEN:1826072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:544482 {source="MONDO:equivalentTo"}
xref: UMLS:C5680165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826072"}
is_a: MONDO:0001549 ! hemolytic-uremic syndrome
intersection_of: MONDO:0001549 ! hemolytic-uremic syndrome
intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease

[Term]
id: MONDO:0034104
name: obsolete global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5336" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0033642

[Term]
id: MONDO:0034106
name: developmental and epileptic encephalopathy, 73
subset: gard_rare {source="GARD:17988", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:544503"}
subset: orphanet_rare {source="Orphanet:544503"}
subset: rare
synonym: "DEE73" EXACT ABBREVIATION [OMIM:618379]
synonym: "developmental and epileptic encephalopathy 73" EXACT [OMIM:618379, OMIM:genemap2]
synonym: "epileptic encephalopathy, early infantile, 73" EXACT [OMIM:618379]
synonym: "rnf13-related severe early-onset epileptic encephalopathy" EXACT [Orphanet:544503]
xref: DOID:0112209 {source="MONDO:equivalentTo"}
xref: GARD:17988 {source="MONDO:GARD"}
xref: MEDGEN:1681654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618379 {source="Orphanet:544503", source="MONDO:equivalentTo"}
xref: Orphanet:544503 {source="MONDO:equivalentTo"}
xref: UMLS:C5193065 {source="MEDGEN:1681654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:544503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:544503"} ! monogenic epilepsy
is_a: MONDO:0100062 {source="https://orcid.org/0000-0002-6601-2165"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 {source="https://orcid.org/0000-0002-6601-2165"} ! developmental and epileptic encephalopathy
intersection_of: RO:0004001 http://identifiers.org/hgnc/10057 {source="https://orcid.org/0000-0002-6601-2165"} ! has material basis in gain of function germline mutation in RNF13
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0034109
name: congenital myopathy with reduced type 2 muscle fibers
subset: gard_rare {source="GARD:17989", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:544602"}
subset: orphanet_rare {source="Orphanet:544602"}
subset: rare
synonym: "myopathy, congenital, with fast-twitch (type II) fiber atrophy" EXACT [OMIM:618414, OMIM:genemap2]
synonym: "myopathy, congenital, with fast-twitch (type II) fibre atrophy" EXACT OMO:0003005 []
xref: DOID:0081346 {source="MONDO:equivalentTo"}
xref: GARD:17989 {source="MONDO:GARD"}
xref: MEDGEN:1672638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618414 {source="Orphanet:544602", source="MONDO:equivalentTo"}
xref: Orphanet:544602 {source="MONDO:equivalentTo"}
xref: UMLS:C5193081 {source="MEDGEN:1672638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:618414", source="Orphanet:544602"} ! congenital myopathy
relationship: has_characteristic HP:0000007 {source="Orphanet:544602"} ! Autosomal recessive inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: RO:0004001 http://identifiers.org/hgnc/7582 {source="Orphanet:544602"} ! has material basis in gain of function germline mutation in MYL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0034110
name: atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
subset: gard_rare {source="GARD:22238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:544628"}
subset: orphanet_rare {source="Orphanet:544628"}
subset: rare
xref: GARD:22238 {source="MONDO:GARD"}
xref: MEDGEN:1830116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:544628 {source="MONDO:equivalentTo"}
xref: UMLS:C5681324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830116"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder

[Term]
id: MONDO:0034121
name: NAD(P)HX dehydratase deficiency
subset: gard_rare {source="GARD:17990", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:555402"}
subset: orphanet_rare {source="Orphanet:555402"}
subset: rare
synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2" RELATED [OMIM:618321]
synonym: "PEBEL2" RELATED ABBREVIATION [OMIM:618321]
xref: GARD:17990 {source="MONDO:GARD"}
xref: MEDGEN:1681210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618321 {source="Orphanet:555402", source="MONDO:equivalentTo"}
xref: Orphanet:555402 {source="MONDO:equivalentTo", source="OMIM:618321"}
xref: UMLS:C5193026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681210"}
is_a: MONDO:0014960 {source="OMIM:618321"} ! encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism
is_a: MONDO:0024237 {source="Orphanet:555402"} ! inherited neurodegenerative disorder
relationship: disease_has_basis_in_disruption_of GO:0047453 ! ATP-dependent NAD(P)H-hydrate dehydratase activity
relationship: has_characteristic HP:0000007 {source="Orphanet:555402"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25576 {source="Orphanet:555402"} ! NAXD

[Term]
id: MONDO:0034122
name: obsolete NAD(P)HX epimerase deficiency
is_obsolete: true
replaced_by: MONDO:0014960

[Term]
id: MONDO:0034127
name: IgA pemphigus
subset: gard_rare {source="GARD:22242", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:555905"}
subset: orphanet_rare {source="Orphanet:555905"}
subset: rare
xref: DOID:0080851 {source="MONDO:equivalentTo"}
xref: GARD:22242 {source="MONDO:GARD"}
xref: MEDGEN:697519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:555905 {source="MONDO:equivalentTo"}
xref: UMLS:C1274167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:697519"}
is_a: MONDO:0019337 {source="Orphanet:555905"} ! autoimmune bullous skin disease

[Term]
id: MONDO:0034142
name: pancreatic agenesis-holoprosencephaly syndrome
subset: gard_rare {source="GARD:17992", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:556955"}
subset: orphanet_rare {source="Orphanet:556955"}
subset: rare
xref: GARD:17992 {source="MONDO:GARD"}
xref: MEDGEN:1808942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:556955 {source="MONDO:equivalentTo"}
xref: UMLS:C5681334 {source="MEDGEN:1808942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:556955"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0034143
name: early-onset calcifying leukoencephalopathy-skeletal dysplasia
subset: gard_rare {source="GARD:22246", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:556985"}
subset: orphanet_rare {source="Orphanet:556985"}
subset: rare
xref: GARD:22246 {source="MONDO:GARD"}
xref: MEDGEN:1805057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:556985 {source="MONDO:equivalentTo"}
xref: UMLS:C5681333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805057"}
is_a: MONDO:0017198 {source="Orphanet:556985"} ! osteopetrosis
is_a: MONDO:0019046 {source="Orphanet:556985"} ! leukodystrophy
is_a: MONDO:0024237 {source="Orphanet:556985"} ! inherited neurodegenerative disorder

[Term]
id: MONDO:0034145
name: oculocerebrodental syndrome
subset: gard_rare {source="GARD:17993", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:557003"}
subset: orphanet_rare {source="Orphanet:557003"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cataracts, Early-Onset, With Skeletal and Dental Anomalies" RELATED [OMIM:618440]
synonym: "OCSKD" RELATED ABBREVIATION [OMIM:618440]
synonym: "oculoskeletodental syndrome" RELATED [OMIM:618440]
xref: GARD:17993 {source="MONDO:GARD"}
xref: MEDGEN:1674537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618440 {source="MONDO:equivalentTo"}
xref: Orphanet:557003 {source="MONDO:equivalentTo", source="OMIM:618440"}
xref: UMLS:C5193101 {source="MEDGEN:1674537", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:618440"} ! hereditary disease
is_a: MONDO:0005308 {source="Orphanet:557003"} ! ciliopathy
is_a: MONDO:0015159 {source="Orphanet:557003"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: disease_has_feature HP:0004348 {source="Orphanet:557003"} ! Abnormality of bone mineral density
relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:557003", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization

[Term]
id: MONDO:0034146
name: spastic ataxia-dysarthria due to glutaminase deficiency
subset: gard_rare {source="GARD:22247", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:557056"}
subset: orphanet_rare {source="Orphanet:557056"}
subset: rare
xref: GARD:22247 {source="MONDO:GARD"}
xref: MEDGEN:1814477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:557056 {source="MONDO:equivalentTo"}
xref: UMLS:C5681336 {source="MEDGEN:1814477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017847 {source="Orphanet:557056", source="PMID:30970188"} ! autosomal recessive spastic ataxia
is_a: MONDO:0019052 {source="Orphanet:557056", source="PMID:30970188"} ! inborn errors of metabolism
is_a: MONDO:0600001 {source="Orphanet:557056", source="PMID:30970188"} ! glutaminase deficiency
relationship: excluded_subClassOf MONDO:0017352 {source="Orphanet:557056", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glutamine metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4331 {source="Orphanet:557056", source="PMID:30970188"} ! GLS

[Term]
id: MONDO:0034147
name: obsolete neonatal epileptic encephalopathy due to glutaminase deficiency
xref: GARD:17994 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6329" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0032678

[Term]
id: MONDO:0034150
name: idiopathic gastroparesis
subset: gard_rare {source="GARD:22249", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:558411"}
subset: orphanet_rare {source="Orphanet:558411"}
subset: rare
xref: GARD:22249 {source="MONDO:GARD"}
xref: MEDGEN:540450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:558411 {source="MONDO:equivalentTo"}
xref: UMLS:C0267171 {source="MEDGEN:540450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0006769 {source="https://orcid.org/0000-0002-3458-4839"} ! gastroparesis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0700005 ! idiopathic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0034186
name: autosomal recessive extra-oral halitosis
subset: gard_rare {source="GARD:17996", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:562538"}
subset: orphanet_rare {source="Orphanet:562538"}
subset: rare
xref: GARD:17996 {source="MONDO:GARD"}
xref: Orphanet:562538 {source="MONDO:equivalentTo"}
is_a: MONDO:0019222 {source="Orphanet:562538"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0034189
name: primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
subset: gard_rare {source="GARD:22250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:562639"}
subset: orphanet_rare {source="Orphanet:562639"}
subset: rare
xref: GARD:22250 {source="MONDO:GARD"}
xref: MEDGEN:1812237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:562639 {source="MONDO:equivalentTo"}
xref: UMLS:C5680117 {source="MEDGEN:1812237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004789 {source="https://orcid.org/0000-0002-6601-2165"} ! cholangitis
is_a: MONDO:0016264 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis

[Term]
id: MONDO:0034204
name: syndromic congenital sodium diarrhea
subset: gard_rare {source="GARD:22262", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:563708"}
subset: orphanet_rare {source="Orphanet:563708"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:22262 {source="MONDO:GARD"}
xref: MEDGEN:1805017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563708 {source="MONDO:equivalentTo"}
xref: UMLS:C5680120 {source="MEDGEN:1805017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015170 {source="https://orcid.org/0000-0002-6601-2165"} ! congenital sodium diarrhea
intersection_of: MONDO:0015170 ! congenital sodium diarrhea
intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0034212
name: methotrexate toxicity
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:565782"}
subset: orphanet_rare {source="Orphanet:565782"}
subset: rare
xref: MEDGEN:108272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:565782 {source="MONDO:equivalentTo"}
xref: UMLS:C0568062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:108272"}
is_a: MONDO:0000001 {source="Orphanet:565782"} ! disease
is_a: MONDO:0029000 {source="MONDO:0017633-obsoleted"} ! poisoning
is_a: MONDO:0800390 {source="https://orcid.org/0000-0001-5208-3432"} ! chemotherapy-induced toxicity
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:44185 ! methotrexate

[Term]
id: MONDO:0034216
name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
subset: gard_rare {source="GARD:22275", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:566231"}
subset: orphanet_rare {source="Orphanet:566231"}
subset: rare
synonym: "resistance to thyroid hormone alpha" EXACT [Orphanet:566231]
xref: GARD:22275 {source="MONDO:GARD"}
xref: MEDGEN:1830097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:566231 {source="MONDO:equivalentTo"}
xref: UMLS:C5680127 {source="MEDGEN:1830097", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="Orphanet:566231"} ! disease
intersection_of: MONDO:0001328 ! thyroid hormone resistance syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11796 ! THRA
relationship: has_characteristic MONDO:0021140 ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11796 {source="https://orcid.org/0000-0002-6601-2165"} ! THRA

[Term]
id: MONDO:0034217
name: obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
subset: ordo_disorder {source="Orphanet:566243"}
subset: otar {source="MONDO:OTAR"}
xref: GARD:18002 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:E07.8 {source="Orphanet:Attributed", source="Orphanet:566243"}
xref: Orphanet:566243 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034443
name: obsolete genetic non-acquired premature ovarian failure
subset: ordo_group_of_disorders {source="Orphanet:485382"}
xref: GARD:21992 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:485382 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034556
name: vibratory angioedema
def: "Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening." [Orphanet:493348]
subset: gard_rare {source="GARD:17901", source="MONDO:GARD"}
subset: rare
xref: GARD:17901 {source="MONDO:GARD"}
xref: MEDGEN:99175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:493348 {source="MONDO:equivalentTo"}
xref: UMLS:C0473546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99175"}
is_a: MONDO:0019624 {source="https://orcid.org/0000-0001-5208-3432"} ! acquired angioedema

[Term]
id: MONDO:0034641
name: obsolete rare genetic hyperkinetic movement disorder
subset: ordo_group_of_disorders {source="Orphanet:496916"}
xref: GARD:22013 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:496916 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034661
name: obsolete syndromic biliary atresia
subset: ordo_group_of_disorders {source="Orphanet:498350"}
xref: GARD:22019 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498350 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034663
name: obsolete genetic inflammatory or rheumatoid-like osteoarthropathy
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800092

[Term]
id: MONDO:0034667
name: obsolete longitudinal limb defect
subset: ordo_group_of_disorders {source="Orphanet:498457"}
xref: GARD:22024 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498457 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034668
name: obsolete terminal transverse limb defect
subset: ordo_group_of_disorders {source="Orphanet:498461"}
xref: GARD:22025 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498461 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034669
name: obsolete non-syndromic preaxial polydactyly
subset: ordo_group_of_disorders {source="Orphanet:498464"}
xref: GARD:22026 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498464 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034670
name: obsolete non-syndromic postaxial polydactyly
subset: ordo_group_of_disorders {source="Orphanet:498467"}
xref: GARD:22027 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498467 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034671
name: obsolete non-syndromic complex polydactyly
subset: ordo_group_of_disorders {source="Orphanet:498470"}
xref: GARD:22028 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498470 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034673
name: obsolete ectrodactyly with and without other manifestations
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800090

[Term]
id: MONDO:0034676
name: overgrowth syndrome with 2q37 translocation
def: "A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported." [Orphanet:498488]
subset: gard_rare {source="GARD:22032", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498488"}
subset: orphanet_rare {source="Orphanet:498488"}
subset: rare
xref: GARD:22032 {source="MONDO:GARD"}
xref: MEDGEN:1798659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:498488 {source="MONDO:equivalentTo"}
xref: UMLS:C5567236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798659"}
is_a: MONDO:0019716 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! overgrowth syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0034678
name: obsolete mirror-image polydactyly
def: "OBSOLETE. A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. [Orphanet:498494]" [Orphanet:498494]
subset: ordo_disorder {source="Orphanet:498494"}
xref: GARD:22034 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498494 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034733
name: obsolete cochlear nerve deficiency
def: "OBSOLETE. A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. [Orphanet:502318]" [Orphanet:502318]
subset: ordo_disorder {source="Orphanet:502318"}
xref: GARD:22045 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H93.3 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:502318 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034819
name: obsolete familial intestinal malrotation
def: "OBSOLETE. A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies." [Orphanet:508410]
subset: ordo_disorder {source="Orphanet:508410"}
xref: GARD:22067 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:508410 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034820
name: cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
def: "A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss." [Orphanet:508476]
subset: gard_rare {source="GARD:22068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508476"}
subset: orphanet_rare {source="Orphanet:508476"}
subset: rare
synonym: "cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome" EXACT [Orphanet:508476]
synonym: "hyaluronidase 2 deficiency" EXACT [Orphanet:508476]
xref: GARD:22068 {source="MONDO:GARD"}
xref: MEDGEN:1800190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:508476 {source="MONDO:equivalentTo"}
xref: UMLS:C5568767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800190"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5321 ! HYAL2

[Term]
id: MONDO:0034823
name: oral-facial-digital syndrome with short stature and brachymesophalangy
def: "A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones." [Orphanet:508501]
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0054770 orofaciodigital syndrome 18
subset: gard_rare {source="GARD:22069", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:508501"}
subset: orphanet_rare {source="Orphanet:508501"}
subset: rare
synonym: "OFD18" EXACT ABBREVIATION [Orphanet:508501]
synonym: "oral-facial-digital syndrome type 18" EXACT [Orphanet:508501]
synonym: "orofaciodigital syndrome type 18" EXACT [Orphanet:508501]
xref: GARD:22069 {source="MONDO:GARD"}
xref: Orphanet:508501 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17367 ! IFT57
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7582" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0034846
name: primary desmosis coli
def: "A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation." [Orphanet:565641]
subset: gard_rare {source="GARD:22268", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:565641"}
subset: orphanet_rare {source="Orphanet:565641"}
subset: rare
xref: GARD:22268 {source="MONDO:GARD"}
xref: ICD10CM:K59.9 {source="Orphanet:565641/ntbt"}
xref: MEDGEN:1812159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:565641 {source="MONDO:equivalentTo"}
xref: UMLS:C5680125 {source="MONDO:equivalentTo", source="MEDGEN:1812159", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="Orphanet:565641"} ! intestinal disorder

[Term]
id: MONDO:0034872
name: obsolete large granular lymphocyte leukemia
subset: ordo_group_of_disorders {source="Orphanet:512034"}
xref: GARD:22073 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:512034 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034895
name: congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
def: "A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period." [Orphanet:514352]
subset: gard_rare {source="GARD:22076", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:514352"}
subset: orphanet_rare {source="Orphanet:514352"}
subset: rare
synonym: "serpentine-like syndrome" EXACT [Orphanet:514352]
xref: GARD:22076 {source="MONDO:GARD"}
xref: MEDGEN:1807957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:514352 {source="MONDO:equivalentTo"}
xref: UMLS:C5680208 {source="MONDO:equivalentTo", source="MEDGEN:1807957", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0034901
name: obsolete ATP13A2-related parkinsonism
subset: ordo_group_of_disorders {source="Orphanet:514980"}
xref: GARD:22077 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:514980 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034923
name: obsolete inflammatory/autoimmune disorder involving the lacrimal system
subset: ordo_group_of_disorders {source="Orphanet:519264"}
xref: GARD:22078 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519264 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0007179

[Term]
id: MONDO:0034926
name: obsolete rare disorder with entropion
subset: ordo_group_of_disorders {source="Orphanet:519270"}
xref: GARD:22081 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519270 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034931
name: obsolete rare conjunctivitis
subset: ordo_group_of_disorders {source="Orphanet:519280"}
xref: GARD:22086 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519280 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI
is_obsolete: true
consider: MONDO:0003799

[Term]
id: MONDO:0034937
name: obsolete syndromic ectopia lentis
subset: ordo_group_of_disorders {source="Orphanet:519292"}
xref: GARD:22092 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519292 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true
consider: HP:0001083

[Term]
id: MONDO:0034943
name: obsolete isolated vitreoretinopathy
subset: ordo_group_of_disorders {source="Orphanet:519304"}
xref: GARD:22098 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519304 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true
consider: HP:0007773

[Term]
id: MONDO:0034953
name: obsolete syndromic inherited retinal disorder
subset: ordo_group_of_disorders {source="Orphanet:519325"}
xref: GARD:22108 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519325 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingOrigin"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0005283

[Term]
id: MONDO:0034954
name: obsolete syndromic vitreoretinopathy
subset: ordo_group_of_disorders {source="Orphanet:519327"}
xref: GARD:22109 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519327 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034961
name: obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
subset: ordo_group_of_disorders {source="Orphanet:519341"}
xref: GARD:22115 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519341 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0005560

[Term]
id: MONDO:0034962
name: obsolete rare ophthalmic disorder with cortical involvement
subset: ordo_group_of_disorders {source="Orphanet:519343"}
xref: GARD:22116 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519343 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0005328

[Term]
id: MONDO:0034965
name: obsolete rare ophthalmic disorder with cranial nerve involvement
subset: ordo_group_of_disorders {source="Orphanet:519349"}
xref: GARD:22119 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519349 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0005328

[Term]
id: MONDO:0034968
name: obsolete rare ocular motility/alignment disorder
subset: ordo_group_of_disorders {source="Orphanet:519355"}
xref: GARD:22122 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:519355 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI
is_obsolete: true
consider: MONDO:0001584

[Term]
id: MONDO:0034971
name: isolated congenital entropion
def: "A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge." [Orphanet:519386]
subset: gard_rare {source="GARD:22123", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519386"}
subset: orphanet_rare {source="Orphanet:519386"}
subset: rare
xref: GARD:22123 {source="MONDO:GARD"}
xref: ICD10CM:Q10.2 {source="Orphanet:519386"}
xref: icd11.foundation:1290880184 {source="MONDO:equivalentTo", source="Orphanet:519386", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:519386 {source="MONDO:equivalentTo"}
is_a: MONDO:0020159 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital entropion

[Term]
id: MONDO:0034976
name: iatrogenic Creutzfeldt-Jakob disease
subset: gard_rare {source="GARD:22329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:576379"}
subset: orphanet_rare {source="Orphanet:576379"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:22329 {source="MONDO:GARD"}
xref: icd11.foundation:437591130 {source="Orphanet:576379", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:908476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200193 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:576379 {source="MONDO:equivalentTo"}
xref: UMLS:C2349757 {source="MEDGEN:908476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018686 {source="Orphanet:576379"} ! acquired Creutzfeldt-Jakob disease
intersection_of: MONDO:0018686 ! acquired Creutzfeldt-Jakob disease
intersection_of: has_characteristic MONDO:0100426 ! iatrogenic

[Term]
id: MONDO:0034977
name: obsolete isolated microspherophakia
def: "OBSOLETE. A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma." [Orphanet:519396]
subset: ordo_disorder {source="Orphanet:519396"}
xref: GARD:22126 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q12.4 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:1194029577 {source="MONDO:obsoleteEquivalent", source="Orphanet:519396", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:519396 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true
consider: HP:0030961

[Term]
id: MONDO:0034978
name: isolated foveal hypoplasia
def: "A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology." [Orphanet:519398]
subset: gard_rare {source="GARD:22127", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:519398"}
subset: orphanet_rare {source="Orphanet:519398"}
subset: rare
xref: GARD:22127 {source="MONDO:GARD"}
xref: ICD10CM:H35.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:519398"}
xref: MEDGEN:376923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519398 {source="MONDO:equivalentTo"}
xref: UMLS:C1850993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376923"}
is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder

[Term]
id: MONDO:0034979
name: obsolete peripapillary staphyloma
def: "OBSOLETE. A rare congenital optic disk excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disk. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. [Orphanet:519400]" [Orphanet:519400]
subset: ordo_disorder {source="Orphanet:519400"}
xref: GARD:22128 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:519400 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034980
name: obsolete isolated megalopapilla
def: "OBSOLETE. A rare ophthalmic disorder characterized by an abnormally large optic disk (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disk, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla." [Orphanet:519402]
subset: ordo_disorder {source="Orphanet:519402"}
xref: GARD:22129 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"}
xref: icd11.foundation:1410300100 {source="MONDO:obsoleteEquivalent", source="Orphanet:519402", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:519402 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034981
name: obsolete optic disk pit
def: "OBSOLETE. A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disk. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disk, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. [Orphanet:519404]" [Orphanet:519404]
subset: ordo_disorder {source="Orphanet:519404"}
xref: GARD:22130 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:519404 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0034987
name: intraductal tubulopapillary neoplasm of pancreas
subset: gard_rare {source="GARD:22331", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:580572"}
subset: orphanet_rare {source="Orphanet:580572"}
subset: rare
xref: GARD:22331 {source="MONDO:GARD"}
xref: MEDGEN:459415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:580572 {source="MONDO:equivalentTo"}
xref: UMLS:C2987189 {source="MEDGEN:459415", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021040 {source="MONDO:0018520-obsoleted"} ! pancreatic neoplasm

[Term]
id: MONDO:0034989
name: intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
def: "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy." [Orphanet:508498]
subset: gard_rare {source="GARD:17948", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508498"}
subset: orphanet_rare {source="Orphanet:508498"}
subset: rare
xref: GARD:17948 {source="MONDO:GARD"}
xref: MEDGEN:1799995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:508498 {source="MONDO:equivalentTo"}
xref: UMLS:C5568572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799995"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0034991
name: intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
def: "A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent." [Orphanet:508512]
subset: gard_rare {source="GARD:17949", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:508512"}
subset: orphanet_rare {source="Orphanet:508512"}
subset: rare
xref: GARD:17949 {source="MONDO:GARD"}
xref: MEDGEN:1799324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:508512 {source="MONDO:equivalentTo"}
xref: UMLS:C5567901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799324"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0035001
name: obsolete rare disorder of the visual organs
subset: ordo_group_of_disorders {source="Orphanet:520814"}
xref: GARD:22135 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:520814 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI
is_obsolete: true
consider: MONDO:0021084

[Term]
id: MONDO:0035002
name: obsolete isolated inherited retinal disorder
subset: ordo_group_of_disorders {source="Orphanet:520817"}
xref: GARD:22136 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:520817 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035004
name: serine biosynthesis pathway deficiency, infantile/juvenile form
subset: gard_rare {source="GARD:22334", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:583595"}
subset: orphanet_rare {source="Orphanet:583595"}
subset: rare
xref: GARD:22334 {source="MONDO:GARD"}
xref: MEDGEN:1830119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:583595 {source="MONDO:equivalentTo"}
xref: UMLS:C5681678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830119"}
is_a: MONDO:0018162 {source="Orphanet:583595"} ! neurometabolic disorder due to serine deficiency
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:583595", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0035008
name: isolated splenic vein thrombosis
subset: gard_rare {source="GARD:22338", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:583856"}
subset: orphanet_rare {source="Orphanet:583856"}
subset: rare
xref: GARD:22338 {source="MONDO:GARD"}
xref: icd11.foundation:121618859 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:583856"}
xref: MEDGEN:544034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:583856 {source="MONDO:equivalentTo"}
xref: UMLS:C0272416 {source="MEDGEN:544034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000831 {source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic disease
is_a: MONDO:0004634 {source="https://orcid.org/0000-0001-5208-3432"} ! vein disorder

[Term]
id: MONDO:0035009
name: isolated mesenteric vein thrombosis
subset: gard_rare {source="GARD:22339", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:583861"}
subset: orphanet_rare {source="Orphanet:583861"}
subset: rare
xref: GARD:22339 {source="MONDO:GARD"}
xref: icd11.foundation:213868120 {source="Orphanet:583861", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"}
xref: Orphanet:583861 {source="MONDO:equivalentTo"}
is_a: MONDO:0000831 {source="https://orcid.org/0000-0001-5208-3432"} ! thrombotic disease
is_a: MONDO:0004634 {source="https://orcid.org/0000-0001-5208-3432"} ! vein disorder
is_a: MONDO:0005020 {source="Orphanet:565641"} ! intestinal disorder

[Term]
id: MONDO:0035013
name: obsolete genetic primary orthostatic disorder
subset: ordo_group_of_disorders {source="Orphanet:521232"}
xref: GARD:22140 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:521232 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035014
name: obsolete primary orthostatic disorder
subset: ordo_group_of_disorders {source="Orphanet:521236"}
xref: GARD:22141 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:521236 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035018
name: frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
def: "A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis." [Orphanet:521308]
subset: gard_rare {source="GARD:22142", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521308"}
subset: orphanet_rare {source="Orphanet:521308"}
subset: rare
xref: GARD:22142 {source="MONDO:GARD"}
xref: MEDGEN:1799315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:521308 {source="MONDO:equivalentTo"}
xref: UMLS:C5567892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799315"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0035027
name: microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
subset: gard_rare {source="GARD:22145", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521445"}
subset: orphanet_rare {source="Orphanet:521445"}
subset: rare
xref: GARD:22145 {source="MONDO:GARD"}
xref: MEDGEN:1830117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:521445 {source="MONDO:equivalentTo"}
xref: UMLS:C5681443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830117"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14632 ! ADAMTSL1

[Term]
id: MONDO:0035037
name: obsolete rare genetic disorder of the visual organs
subset: ordo_group_of_disorders {source="Orphanet:522504"}
xref: GARD:22149 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:522504 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035075
name: obsolete secondary early-onset glaucoma of genetic origin
subset: ordo_group_of_disorders {source="Orphanet:522580"}
xref: GARD:22186 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:522580 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035105
name: diaphragmatic hernia-short bowel-asplenia syndrome
def: "A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported." [Orphanet:527468]
subset: gard_rare {source="GARD:22193", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:527468"}
subset: orphanet_rare {source="Orphanet:527468"}
subset: rare
xref: GARD:22193 {source="MONDO:GARD"}
xref: MEDGEN:1811530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:527468 {source="MONDO:equivalentTo"}
xref: UMLS:C5681454 {source="MEDGEN:1811530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4978 ! HLX

[Term]
id: MONDO:0035112
name: acute myeloid leukemia with BCR-ABL1
subset: gard_rare {source="GARD:22340", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:585867"}
subset: orphanet_rare {source="Orphanet:585867"}
subset: rare
synonym: "acute myeloid leukaemia with t(9;22)(q34.1;q11.2)" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia with t(9;22)(q34.1;q11.2)" EXACT []
synonym: "AML with BCR-ABL1" EXACT [Orphanet:585867]
synonym: "AML with t(9;22)(q34.1;q11.2)" EXACT [Orphanet:585867]
xref: DOID:0080976 {source="MONDO:equivalentTo"}
xref: GARD:22340 {source="MONDO:GARD"}
xref: MEDGEN:1377153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129785 {source="MONDO:equivalentTo"}
xref: Orphanet:585867 {source="MONDO:equivalentTo"}
xref: UMLS:C4329268 {source="MONDO:equivalentTo", source="MEDGEN:1377153", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="NCIT:C129785", source="Orphanet:585867"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0035117
name: PUM1-associated developmental disability-ataxia-seizure syndrome
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0033482 Spinocerebellar ataxia 47
subset: gard_rare {source="GARD:22351", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:589515"}
subset: orphanet_rare {source="Orphanet:589515"}
subset: rare
xref: GARD:22351 {source="MONDO:GARD"}
xref: Orphanet:589515 {source="MONDO:equivalentTo"}
is_a: MONDO:0015653 {source="Orphanet:589515"} ! monogenic epilepsy
is_a: MONDO:0019792 {source="Orphanet:589515"} ! autosomal dominant cerebellar ataxia type I
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7851" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0035121
name: myeloid/lymphoid neoplasm associated with JAK2 rearrangement
subset: gard_rare {source="GARD:22355", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589542"}
subset: orphanet_rare {source="Orphanet:589542"}
subset: rare
synonym: "myeloid/lymphoid neoplasms with PCM1-JAK2" EXACT [Orphanet:589542]
xref: GARD:22355 {source="MONDO:GARD"}
xref: MEDGEN:1689091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129853 {source="MONDO:equivalentTo"}
xref: Orphanet:589542 {source="MONDO:equivalentTo"}
xref: UMLS:C5229383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1689091"}
is_a: MONDO:0015688 {source="NCIT:C129853", source="Orphanet:589542"} ! myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

[Term]
id: MONDO:0035122
name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
subset: gard_rare {source="GARD:22356", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589547"}
subset: orphanet_rare {source="Orphanet:589547"}
subset: rare
xref: GARD:22356 {source="MONDO:GARD"}
xref: MEDGEN:1830118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589547 {source="MONDO:equivalentTo"}
xref: UMLS:C5681638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830118"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:589547", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0035124
name: linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
subset: gard_rare {source="GARD:22358", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589608"}
subset: orphanet_rare {source="Orphanet:589608"}
subset: rare
xref: GARD:22358 {source="MONDO:GARD"}
xref: MEDGEN:1806249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589608 {source="MONDO:equivalentTo"}
xref: UMLS:C5680313 {source="MEDGEN:1806249", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:589608"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019290 {source="Orphanet:589608"} ! hypopigmentation of the skin

[Term]
id: MONDO:0035133
name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22367", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589905"}
subset: orphanet_rare {source="Orphanet:589905"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Chung-Jansen syndrome" EXACT [OMIM:617991, OMIM:genemap2]
synonym: "developmental delay, intellectual disability, obesity, and dysmorphic features" EXACT [OMIM:617991]
synonym: "DIDOD" RELATED ABBREVIATION [OMIM:617991]
xref: GARD:22367 {source="MONDO:GARD"}
xref: MEDGEN:1641154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617991 {source="MONDO:equivalentTo"}
xref: Orphanet:589905 {source="MONDO:equivalentTo"}
xref: UMLS:C4693860 {source="MEDGEN:1641154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:617991"} ! hereditary disease
is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder
is_a: MONDO:0015159 {source="Orphanet:589905"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:589905", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4803" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0035136
name: isolated melanotic schwannoma
subset: gard_rare {source="GARD:22368", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:590539"}
subset: orphanet_rare {source="Orphanet:590539"}
subset: rare
xref: GARD:22368 {source="MONDO:GARD"}
xref: Orphanet:590539 {source="MONDO:equivalentTo"}
is_a: MONDO:0002558 {source="Orphanet:590539"} ! melanotic neurilemmoma
is_a: MONDO:0016752 {source="Orphanet:590539"} ! benign peripheral nerve sheath tumor
is_a: MONDO:0018078 {source="Orphanet:590539"} ! soft tissue sarcoma

[Term]
id: MONDO:0035149
name: secondary erythromelalgia
subset: gard_rare {source="GARD:22201", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529864"}
subset: orphanet_rare {source="Orphanet:529864"}
subset: rare
synonym: "Secondary erythermalgia" EXACT [Orphanet:529864]
xref: GARD:22201 {source="MONDO:GARD"}
xref: ICD10CM:I73.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:529864"}
xref: MEDGEN:639378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529864 {source="MONDO:equivalentTo"}
xref: UMLS:C0543820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:639378"}
is_a: MONDO:0016028 {source="https://orcid.org/0000-0001-5208-3432"} ! erythromelalgia

[Term]
id: MONDO:0035151
name: 17q24.2 microdeletion syndrome
def: "A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders." [Orphanet:529962]
subset: gard_rare {source="GARD:22202", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529962"}
subset: orphanet_rare {source="Orphanet:529962"}
subset: rare
synonym: "Del(17)(q24)" EXACT [Orphanet:529962]
xref: GARD:22202 {source="MONDO:GARD"}
xref: MEDGEN:1808156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529962 {source="MONDO:equivalentTo"}
xref: UMLS:C5680185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808156"}
is_a: MONDO:0016915 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 17
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr17q24.2 ! 17q24.2 (Human)

[Term]
id: MONDO:0035153
name: male infertility due to acephalic spermatozoa
subset: gard_rare {source="GARD:17971", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:529970"}
subset: rare
synonym: "Acephalic spermatozoa syndrome" EXACT [Orphanet:529970]
xref: DOID:0112311 {source="MONDO:equivalentTo"}
xref: GARD:17971 {source="MONDO:GARD"}
xref: ICD10CM:N46 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:529970"}
xref: Orphanet:529970 {source="MONDO:equivalentTo"}
is_a: MONDO:0005372 {source="https://orcid.org/0000-0001-5208-3432"} ! male infertility

[Term]
id: MONDO:0035159
name: dermoid or epidermoid cyst of the central nervous system
def: "A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis." [Orphanet:530033]
subset: gard_rare {source="GARD:22206", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:530033"}
subset: orphanet_rare {source="Orphanet:530033"}
subset: rare
synonym: "Dermoid or epidermoid cyst of the CNS" EXACT [Orphanet:530033]
xref: GARD:22206 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:530033"}
xref: MEDGEN:1842182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:530033 {source="MONDO:equivalentTo"}
xref: UMLS:C5680190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842182"}
is_a: MONDO:0005070 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neoplasm

[Term]
id: MONDO:0035160
name: obsolete progressive myoclonic epilepsy with neuroserpin inclusion bodies
subset: nord_rare {source="MONDO:NORD"}
xref: GARD:22207 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6406" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0012391

[Term]
id: MONDO:0035161
name: progressive dementia with neuroserpin inclusion bodies
subset: gard_rare {source="GARD:22208", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:530303"}
subset: rare
synonym: "late-onset familial encephalopathy with neuroserpin inclusion bodies" EXACT [Orphanet:530303]
xref: GARD:22208 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:530303"}
xref: MEDGEN:1842194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:530303 {source="MONDO:equivalentTo"}
xref: UMLS:C5680143 {source="MEDGEN:1842194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001627 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! dementia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8943 ! SERPINI1

[Term]
id: MONDO:0035162
name: obsolete PIK3CA-related overgrowth syndrome
subset: ordo_group_of_disorders {source="Orphanet:530313"}
subset: otar {source="MONDO:OTAR"}
synonym: "PIK3CA-Related Overgrowth Spectrum" EXACT [NORD:2036]
synonym: "PROS" EXACT ABBREVIATION [Orphanet:530313]
xref: GARD:22209 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:530313 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035173
name: 9q21.13 microdeletion syndrome
def: "A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus." [Orphanet:531151]
subset: gard_rare {source="GARD:22212", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:531151"}
subset: orphanet_rare {source="Orphanet:531151"}
subset: rare
xref: GARD:22212 {source="MONDO:GARD"}
xref: ICD10CM:F78.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:531151"}
xref: MEDGEN:1803709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:531151 {source="MONDO:equivalentTo"}
xref: UMLS:C5681312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803709"}
is_a: MONDO:0016874 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of chromosome 9
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr9q21.13 ! 9q21.13 (Human)

[Term]
id: MONDO:0035220
name: PLG-related hereditary angioedema with normal C1inh
subset: gard_rare {source="GARD:22217", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:537072"}
subset: rare
synonym: "PLG-related HAE with normal C1 inhibitor" EXACT [Orphanet:537072]
xref: GARD:22217 {source="MONDO:GARD"}
xref: ICD10CM:D84.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:537072"}
xref: MEDGEN:1843266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:537072 {source="MONDO:equivalentTo"}
xref: UMLS:C5680155 {source="MEDGEN:1843266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0019623 {source="PMID:28795768", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0009-0001-6494-4831"} ! hereditary angioedema
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9071 ! PLG
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0035235
name: classic pyoderma gangrenosum
def: "A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated." [Orphanet:538863]
subset: gard_rare {source="GARD:22220", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:538863"}
subset: rare
synonym: "Ulcerative pyoderma gangrenosum" EXACT [Orphanet:538863]
xref: GARD:22220 {source="MONDO:GARD"}
xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:538863"}
xref: MEDGEN:1814456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:538863 {source="MONDO:equivalentTo"}
xref: UMLS:C5680157 {source="MEDGEN:1814456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum

[Term]
id: MONDO:0035236
name: pustular pyoderma gangrenosum
def: "A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease." [Orphanet:538866]
subset: gard_rare {source="GARD:22221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:538866"}
subset: rare
xref: GARD:22221 {source="MONDO:GARD"}
xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:538866"}
xref: MEDGEN:1814476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:538866 {source="MONDO:equivalentTo"}
xref: UMLS:C5681317 {source="MEDGEN:1814476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum

[Term]
id: MONDO:0035237
name: bullous pyoderma gangrenosum
def: "A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised." [Orphanet:538869]
subset: gard_rare {source="GARD:22222", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:538869"}
subset: rare
synonym: "Phemphigoid pyoderma gangrenosum" EXACT [Orphanet:538869]
xref: GARD:22222 {source="MONDO:GARD"}
xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:538869"}
xref: MEDGEN:590609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:538869 {source="MONDO:equivalentTo"}
xref: UMLS:C0406687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590609"}
is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum

[Term]
id: MONDO:0035238
name: vegetative pyoderma gangrenosum
def: "A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum." [Orphanet:538872]
subset: gard_rare {source="GARD:22223", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:538872"}
subset: rare
synonym: "Granulomatous pyoderma gangrenosum" EXACT [Orphanet:538872]
xref: GARD:22223 {source="MONDO:GARD"}
xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:538872"}
xref: MEDGEN:1842944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:538872 {source="MONDO:equivalentTo"}
xref: UMLS:C5680158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842944"}
is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum

[Term]
id: MONDO:0035249
name: obsolete anomalous aortic origin of the left coronary artery
def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia. [Orphanet:541443]" [Orphanet:541443]
subset: ordo_disorder {source="Orphanet:541443"}
xref: GARD:22224 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:541443 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035250
name: obsolete anomalous aortic origin of the right coronary artery
def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present. [Orphanet:541454]" [Orphanet:541454]
subset: ordo_disorder {source="Orphanet:541454"}
xref: GARD:22225 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:541454 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035251
name: obsolete anomalous aortic origin of coronary artery
def: "OBSOLETE. A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed. [Orphanet:541478]" [Orphanet:541478]
subset: ordo_group_of_disorders {source="Orphanet:541478"}
xref: GARD:22226 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:541478 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035252
name: obsolete anomalous origin of coronary artery from the pulmonary artery
def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed. [Orphanet:541507]" [Orphanet:541507]
subset: ordo_disorder {source="Orphanet:541507"}
xref: GARD:22227 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"}
xref: icd11.foundation:1862930314 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:541507"}
xref: Orphanet:541507 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035267
name: obsolete quadricuspid aortic valve
def: "OBSOLETE. A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom. [Orphanet:542568]" [Orphanet:542568]
subset: ordo_disorder {source="Orphanet:542568"}
xref: GARD:22229 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:542568 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035274
name: obsolete anomaly of the coronary ostia
def: "OBSOLETE. A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia. [Orphanet:542822]" [Orphanet:542822]
subset: ordo_group_of_disorders {source="Orphanet:542822"}
xref: GARD:22230 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:542822 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035290
name: atypical hemolytic uremic syndrome with complement gene abnormality
subset: gard_rare {source="GARD:17986", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:544472"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aHUS with complement gene abnormality" EXACT [Orphanet:544472]
synonym: "Atypical HUS with complement gene abnormality" EXACT [Orphanet:544472]
xref: GARD:17986 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:544472"}
xref: MEDGEN:1842625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:544472 {source="MONDO:equivalentTo"}
xref: UMLS:C5680166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842625"}
is_a: MONDO:0016244 {source="Orphanet:544472"} ! atypical hemolytic-uremic syndrome

[Term]
id: MONDO:0035293
name: streptococcus pneumoniae-associated hemolytic uremic syndrome
subset: gard_rare {source="GARD:22235", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:544493"}
subset: rare
synonym: "S. pneumoniae-associated HUS" EXACT [Orphanet:544493]
synonym: "SP-HUS" EXACT [Orphanet:544493]
xref: GARD:22235 {source="MONDO:GARD"}
xref: ICD10CM:D58.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:544493"}
xref: MEDGEN:1842720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:544493 {source="MONDO:equivalentTo"}
xref: UMLS:C5680164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842720"}
is_a: MONDO:0034103 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! infection-related hemolytic uremic syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0035295
name: congenital primary megaureter, refluxing and obstructed form
subset: gard_rare {source="GARD:22236", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:544578"}
subset: rare
xref: GARD:22236 {source="MONDO:GARD"}
xref: ICD10CM:Q62.2 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:544578"}
xref: MEDGEN:1843335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:544578 {source="MONDO:equivalentTo"}
xref: UMLS:C5681326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843335"}
is_a: MONDO:0018960 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! congenital primary megaureter

[Term]
id: MONDO:0035312
name: fibrohistiocytic inflammatory pseudotumor of the liver
def: "A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding." [Orphanet:555434]
subset: gard_rare {source="GARD:22239", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:555434"}
subset: rare
xref: GARD:22239 {source="MONDO:GARD"}
xref: ICD10CM:K75.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:555434"}
xref: MEDGEN:1843230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:555434 {source="MONDO:equivalentTo"}
xref: UMLS:C5681328 {source="MEDGEN:1843230", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024477 {source="PMID:2687584", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! liver and intrahepatic bile duct neoplasm

[Term]
id: MONDO:0035313
name: lymphoplasmacytic inflammatory pseudotumor of the liver
def: "A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding." [Orphanet:555437]
subset: gard_rare {source="GARD:22240", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:555437"}
subset: rare
synonym: "IgG4-related inflammatory pseudotumor of the liver" EXACT [Orphanet:555437]
xref: GARD:22240 {source="MONDO:GARD"}
xref: ICD10CM:K75.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:555437"}
xref: MEDGEN:1843135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:555437 {source="MONDO:equivalentTo"}
xref: UMLS:C5680170 {source="MONDO:equivalentTo", source="MEDGEN:1843135", source="MONDO:MEDGEN"}
is_a: MONDO:0024477 {source="PMID:2687584", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! liver and intrahepatic bile duct neoplasm

[Term]
id: MONDO:0035314
name: obsolete congenital tricuspid valve dysplasia
def: "OBSOLETE. A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur. [Orphanet:555874]" [Orphanet:555874]
subset: ordo_disorder {source="Orphanet:555874"}
xref: GARD:22241 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:Q22.8 {source="MONDO:mondoIsNarrowerThanSource"}
xref: Orphanet:555874 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true
consider: HP:0030732

[Term]
id: MONDO:0035320
name: early-onset familial hypoaldosteronism
def: "A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low." [Orphanet:556030]
subset: gard_rare {source="GARD:22243", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:556030"}
subset: rare
synonym: "Early-onset familial hyperreninemic hypoaldosteronism" EXACT [Orphanet:556030]
synonym: "Severe aldosterone synthase deficiency" EXACT [Orphanet:556030]
xref: GARD:22243 {source="MONDO:GARD"}
xref: ICD10CM:E27.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:556030"}
xref: MEDGEN:1842560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:556030 {source="MONDO:equivalentTo"}
xref: UMLS:C5680171 {source="MEDGEN:1842560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2592 ! CYP11B2

[Term]
id: MONDO:0035321
name: late-onset familial hypoaldosteronism
def: "A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening." [Orphanet:556037]
subset: gard_rare {source="GARD:22244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:556037"}
subset: rare
synonym: "Late-onset familial hyperreninemic hypoaldosteronism" EXACT [Orphanet:556037]
synonym: "Mild aldosterone synthase deficiency" EXACT [Orphanet:556037]
xref: GARD:22244 {source="MONDO:GARD"}
xref: ICD10CM:E27.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:556037"}
xref: MEDGEN:1843290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:556037 {source="MONDO:equivalentTo"}
xref: UMLS:C5680172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843290"}
is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism

[Term]
id: MONDO:0035328
name: obsolete rare disorder due to poisoning
subset: ordo_group_of_disorders {source="Orphanet:556508"}
xref: GARD:22245 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:556508 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOrigin"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0029000

[Term]
id: MONDO:0035337
name: Duane retraction syndrome with congenital deafness
def: "A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome." [Orphanet:529574]
subset: gard_rare {source="GARD:17968", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529574"}
subset: orphanet_rare {source="Orphanet:529574"}
subset: rare
synonym: "DRS with deafness" EXACT [Orphanet:529574]
synonym: "DRS with hearing loss" EXACT [Orphanet:529574]
synonym: "Duane retraction syndrome with congenital hearing loss" EXACT [Orphanet:529574]
synonym: "DURS with deafness" EXACT [Orphanet:529574]
synonym: "DURS with hearing loss" EXACT [Orphanet:529574]
xref: GARD:17968 {source="MONDO:GARD"}
xref: ICD10CM:H50.8 {source="Orphanet:529574"}
xref: MEDGEN:1804304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529574 {source="MONDO:equivalentTo"}
xref: UMLS:C5680193 {source="MEDGEN:1804304", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007473 {source="https://orcid.org/0000-0001-5208-3432"} ! Duane retraction syndrome

[Term]
id: MONDO:0035340
name: obsolete rare disorder with hirschsprung disease as a major feature
subset: ordo_group_of_disorders {source="Orphanet:557866"}
xref: GARD:22248 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:557866 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035344
name: acute bilirubin encephalopathy
def: "A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome." [Orphanet:529799]
subset: gard_rare {source="GARD:22197", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529799"}
subset: orphanet_rare {source="Orphanet:529799"}
subset: rare
synonym: "ABE" EXACT [Orphanet:529799]
synonym: "Acute kernicterus" EXACT [Orphanet:529799]
xref: GARD:22197 {source="MONDO:GARD"}
xref: ICD10CM:P57.8 {source="Orphanet:529799"}
xref: MEDGEN:1808922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529799 {source="MONDO:equivalentTo"}
xref: UMLS:C5671282 {source="MEDGEN:1808922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0035345
name: chronic bilirubin encephalopathy
def: "A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities." [Orphanet:529808]
subset: gard_rare {source="GARD:22198", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529808"}
subset: orphanet_rare {source="Orphanet:529808"}
subset: rare
synonym: "Bilirubin-induced neurological dysfunction" EXACT [Orphanet:529808]
synonym: "BIND" EXACT [Orphanet:529808]
synonym: "CBE" EXACT [Orphanet:529808]
synonym: "Kernicterus spectrum disorder" EXACT [Orphanet:529808]
synonym: "KSD" EXACT [Orphanet:529808]
xref: GARD:22198 {source="MONDO:GARD"}
xref: ICD10CM:P57.8 {source="Orphanet:529808"}
xref: MEDGEN:1806573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529808 {source="MONDO:equivalentTo"}
xref: UMLS:C5575229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806573"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder

[Term]
id: MONDO:0035349
name: localized dystrophic epidermolysis bullosa
def: "A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance." [Orphanet:595356]
subset: gard_rare {source="GARD:22388", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:595356"}
subset: orphanet_rare {source="Orphanet:595356"}
subset: rare
synonym: "localised DEB" EXACT OMO:0003005 []
synonym: "localized DEB" EXACT [Orphanet:595356]
xref: GARD:22388 {source="MONDO:GARD"}
xref: MEDGEN:634276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:595356 {source="MONDO:equivalentTo"}
xref: UMLS:C0474885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:634276"}
is_a: MONDO:0006543 {source="Orphanet:595356"} ! epidermolysis bullosa dystrophica

[Term]
id: MONDO:0035350
name: letrozole toxicity
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529831"}
subset: orphanet_rare {source="Orphanet:529831"}
subset: rare
xref: MEDGEN:1826119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:529831 {source="MONDO:equivalentTo"}
xref: UMLS:C5681461 {source="MEDGEN:1826119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0035354
name: obsolete IgG4-related systemic disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3539" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017287

[Term]
id: MONDO:0035357
name: portosinusoidal vascular disease
subset: gard_rare {source="GARD:22393", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:596937"}
subset: orphanet_rare {source="Orphanet:596937"}
subset: rare
synonym: "PSVD" EXACT ABBREVIATION [Orphanet:596937]
xref: GARD:22393 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:596937/ntbt", source="Orphanet:596937"}
xref: MEDGEN:1842183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:596937 {source="MONDO:equivalentTo"}
xref: UMLS:C5680289 {source="MEDGEN:1842183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002405 {source="Orphanet:596937", source="https://orcid.org/0000-0001-5208-3432"} ! hepatic vascular disorder

[Term]
id: MONDO:0035362
name: TRIM22-related inflammatory bowel disease
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene." [MONDO:patterns/disease_series_by_gene, PMID:26836588]
comment: This was considered for obsoletion but upon further review it seems like a valid disease.
subset: gard_rare {source="GARD:22395", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597201"}
subset: orphanet_rare {source="Orphanet:597201"}
subset: rare
synonym: "TRIM22-related IBD" EXACT [Orphanet:597201]
xref: GARD:22395 {source="MONDO:GARD"}
xref: MEDGEN:1842464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:597201 {source="MONDO:equivalentTo"}
xref: UMLS:C5680271 {source="MONDO:equivalentTo", source="MEDGEN:1842464", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="Orphanet:597201", source="https://orcid.org/0000-0001-5208-3432"} ! inflammatory bowel disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3540" xsd:anyURI

[Term]
id: MONDO:0035363
name: obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3541" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0060759

[Term]
id: MONDO:0035369
name: obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3542" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0032705

[Term]
id: MONDO:0035370
name: ALPI-related inflammatory bowel disease
def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene." [MONDO:patterns/disease_series_by_gene, PMID:29567797]
subset: gard_rare {source="GARD:22400", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597887"}
subset: orphanet_rare {source="Orphanet:597887"}
subset: rare
xref: GARD:22400 {source="MONDO:GARD"}
xref: MEDGEN:1842198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:597887 {source="MONDO:equivalentTo"}
xref: UMLS:C5681586 {source="MEDGEN:1842198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005265 {source="https://orcid.org/0000-0001-5208-3432"} ! inflammatory bowel disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3543" xsd:anyURI

[Term]
id: MONDO:0035375
name: multisystem inflammatory syndrome in children and adults
subset: gard_rare {source="GARD:22403", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:598363"}
subset: orphanet_rare {source="Orphanet:598363"}
subset: rare
synonym: "MIS-C/A" EXACT ABBREVIATION [Orphanet:598363]
xref: GARD:22403 {source="MONDO:GARD"}
xref: MEDGEN:1842571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:598363 {source="MONDO:equivalentTo"}
xref: UMLS:C5680268 {source="MEDGEN:1842571", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100320 {source="https://orcid.org/0000-0001-5208-3432"} ! post-COVID-19 disorder

[Term]
id: MONDO:0035383
name: FOXG1 syndrome
def: "A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum." [Orphanet:561854]
subset: gard_rare {source="GARD:12825", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:561854"}
subset: orphanet_rare {source="Orphanet:561854"}
subset: rare
synonym: "FOXG1-related epileptic-dyskinetic encephalopathy" EXACT [Orphanet:561854]
xref: GARD:12825 {source="MONDO:GARD"}
xref: ICD10CM:F84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:561854"}
xref: Orphanet:561854 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder

[Term]
id: MONDO:0035398
name: obsolete hypomyelination of early myelinating structures
comment: Reason: is a phenotype and not a disease.
subset: ordo_disorder {source="Orphanet:599376"}
synonym: "HEMS" EXACT ABBREVIATION [Orphanet:599376]
xref: GARD:22405 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:599376 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3544" xsd:anyURI
is_obsolete: true
consider: HP:0003429

[Term]
id: MONDO:0035400
name: seronegative autoimmune hepatitis
def: "A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed." [Orphanet:563589]
subset: gard_rare {source="GARD:22253", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563589"}
subset: rare
synonym: "autoantibody-negative autoimmune hepatitis" EXACT [Orphanet:563589]
synonym: "Seronegative AIH" EXACT [Orphanet:563589]
xref: GARD:22253 {source="MONDO:GARD"}
xref: ICD10CM:K75.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563589"}
xref: MEDGEN:1804383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563589 {source="MONDO:equivalentTo"}
xref: UMLS:C5680121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804383"}
is_a: MONDO:0016264 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! autoimmune hepatitis

[Term]
id: MONDO:0035401
name: isolated anencephaly
subset: gard_rare {source="GARD:22254", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563609"}
subset: rare
xref: GARD:22254 {source="MONDO:GARD"}
xref: ICD10CM:Q00.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563609"}
xref: icd11.foundation:452325024 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:563609"}
xref: Orphanet:563609 {source="MONDO:equivalentTo"}
is_a: MONDO:0000819 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! anencephaly

[Term]
id: MONDO:0035402
name: isolated exencephaly
subset: gard_rare {source="GARD:22255", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563612"}
subset: rare
xref: GARD:22255 {source="MONDO:GARD"}
xref: ICD10CM:Q00.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563612"}
xref: Orphanet:563612 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! congenital nervous system disorder

[Term]
id: MONDO:0035403
name: serous cystadenoma of childhood
subset: gard_rare {source="GARD:22256", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563666"}
subset: rare
synonym: "Serous cystadenoma of ovary in childhood" EXACT [Orphanet:563666]
xref: GARD:22256 {source="MONDO:GARD"}
xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563666"}
xref: MEDGEN:1632405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563666 {source="MONDO:equivalentTo"}
xref: UMLS:C4708593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632405"}
is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood

[Term]
id: MONDO:0035404
name: mucinous cystadenoma of childhood
subset: gard_rare {source="GARD:22257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563671"}
subset: rare
synonym: "Mucinous cystadenoma of ovary in childhood" EXACT [Orphanet:563671]
xref: GARD:22257 {source="MONDO:GARD"}
xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563671"}
xref: MEDGEN:1642057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563671 {source="MONDO:equivalentTo"}
xref: UMLS:C4708594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642057"}
is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood

[Term]
id: MONDO:0035405
name: seromucinous cystadenoma of childhood
subset: gard_rare {source="GARD:22258", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563676"}
subset: rare
synonym: "Seromucinous cystadenoma of ovary in childhood" EXACT [Orphanet:563676]
xref: GARD:22258 {source="MONDO:GARD"}
xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563676"}
xref: MEDGEN:1702847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563676 {source="MONDO:equivalentTo"}
xref: UMLS:C5231009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1702847"}
is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood

[Term]
id: MONDO:0035406
name: furuncular myiasis due to Dermatobia hominis
subset: gard_rare {source="GARD:22259", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563684"}
subset: rare
synonym: "furunculoid myiasis due to Dermatobia hominis" EXACT [Orphanet:563684]
synonym: "furunculous myiasis due to Dermatobia hominis" EXACT [Orphanet:563684]
xref: GARD:22259 {source="MONDO:GARD"}
xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563684"}
xref: MEDGEN:548117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563684 {source="MONDO:equivalentTo"}
xref: UMLS:C0277400 {source="MEDGEN:548117", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis

[Term]
id: MONDO:0035407
name: furuncular myiasis due to Cordylobia anthropophaga
subset: gard_rare {source="GARD:22260", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563687"}
subset: rare
synonym: "furunculoid myiasis due to Cordylobia anthropophaga" EXACT [Orphanet:563687]
synonym: "furunculous myiasis due to Cordylobia anthropophaga" EXACT [Orphanet:563687]
xref: GARD:22260 {source="MONDO:GARD"}
xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563687"}
xref: MEDGEN:1386398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563687 {source="MONDO:equivalentTo"}
xref: UMLS:C4511624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386398"}
is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis

[Term]
id: MONDO:0035408
name: furuncular myiasis due to Cordylobia rodhaini
subset: gard_rare {source="GARD:22261", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563690"}
subset: rare
synonym: "furunculoid myiasis due to Cordylobia rodhaini" EXACT [Orphanet:563690]
synonym: "furunculous myiasis due to Cordylobia rodhaini" EXACT [Orphanet:563690]
xref: GARD:22261 {source="MONDO:GARD"}
xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563690"}
xref: MEDGEN:1685143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:563690 {source="MONDO:equivalentTo"}
xref: UMLS:C5231033 {source="MEDGEN:1685143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis

[Term]
id: MONDO:0035410
name: isolated congenital aglossia
subset: gard_rare {source="GARD:22263", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563951"}
subset: rare
xref: GARD:22263 {source="MONDO:GARD"}
xref: ICD10CM:Q38.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563951"}
xref: Orphanet:563951 {source="MONDO:equivalentTo"}
is_a: MONDO:0013003 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated congenital hypoglossia/aglossia

[Term]
id: MONDO:0035411
name: isolated congenital hypoglossia
subset: gard_rare {source="GARD:22264", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:563954"}
subset: rare
xref: GARD:22264 {source="MONDO:GARD"}
xref: ICD10CM:Q38.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563954"}
xref: Orphanet:563954 {source="MONDO:equivalentTo"}
is_a: MONDO:0013003 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated congenital hypoglossia/aglossia

[Term]
id: MONDO:0035423
name: triglyceride deposit cardiomyovasculopathy
subset: gard_rare {source="GARD:22267", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:565612"}
subset: orphanet_rare {source="Orphanet:565612"}
subset: rare
synonym: "Neutral lipid storage disease with severe cardiovascular involvement" EXACT [Orphanet:565612]
synonym: "TGCV" EXACT [Orphanet:565612]
xref: GARD:22267 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:565612"}
xref: MEDGEN:1830096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:565612 {source="MONDO:equivalentTo"}
xref: UMLS:C5680124 {source="MEDGEN:1830096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015611 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neutral lipid storage disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30802 ! PNPLA2

[Term]
id: MONDO:0035426
name: obsolete rare disorder potentially indicated for transplant or complication after transplantation
subset: ordo_group_of_disorders {source="Orphanet:565779"}
xref: GARD:22536 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:565779 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035432
name: POMGNT2-related limb-girdle muscular dystrophy R24
subset: gard_rare {source="GARD:22271", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:565899"}
subset: orphanet_rare {source="Orphanet:565899"}
subset: rare
synonym: "LGMD type R24" EXACT [Orphanet:565899]
synonym: "limb-girdle muscular dystrophy type R24" EXACT [Orphanet:565899]
synonym: "POMGNT2-related LGMD R24" EXACT [Orphanet:565899]
synonym: "POMGNT2-related muscular dystrophy" EXACT [Orphanet:565899]
xref: GARD:22271 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:565899"}
xref: MEDGEN:1830095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:565899 {source="MONDO:equivalentTo"}
xref: UMLS:C5680123 {source="MEDGEN:1830095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016971 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! limb-girdle muscular dystrophy

[Term]
id: MONDO:0035433
name: calpain-3-related limb-girdle muscular dystrophy D4
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0029133 Muscular dystrophy, limb-girdle, autosomal dominant 4
subset: gard_rare {source="GARD:22272", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:565909"}
subset: orphanet_rare {source="Orphanet:565909"}
subset: rare
synonym: "calpain-3-related LGMD D4" EXACT [Orphanet:565909]
synonym: "LGMD type D4" EXACT [Orphanet:565909]
synonym: "LGMD1I" EXACT [Orphanet:565909]
synonym: "limb-girdle muscular dystrophy type D4" EXACT [Orphanet:565909]
xref: GARD:22272 {source="MONDO:GARD"}
xref: ICD10CM:G71.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:565909"}
xref: Orphanet:565909 {source="MONDO:equivalentTo"}
is_a: MONDO:0016971 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! limb-girdle muscular dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7848" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0035437
name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
def: "A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported." [Orphanet:566067]
subset: gard_rare {source="GARD:22273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:566067"}
subset: orphanet_rare {source="Orphanet:566067"}
subset: rare
synonym: "CAIN" EXACT ABBREVIATION [Orphanet:566067]
xref: GARD:22273 {source="MONDO:GARD"}
xref: ICD10CM:D89.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566067"}
xref: MEDGEN:1799987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:566067 {source="MONDO:equivalentTo"}
xref: UMLS:C5568564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799987"}
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! autoinflammatory syndrome
relationship: RO:0004001 http://identifiers.org/hgnc/1836 ! has material basis in gain of function germline mutation in CEBPE

[Term]
id: MONDO:0035441
name: congenital autosomal recessive small-platelet thrombocytopenia
def: "A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections." [Orphanet:566192]
subset: gard_rare {source="GARD:22274", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:566192"}
subset: orphanet_rare {source="Orphanet:566192"}
subset: rare
synonym: "CARST" EXACT [Orphanet:566192]
xref: GARD:22274 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566192"}
xref: MEDGEN:1802913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:566192 {source="MONDO:equivalentTo"}
xref: UMLS:C5680129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802913"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder
is_a: MONDO:0100241 {source="https://orcid.org/0000-0002-5002-8648"} ! inherited thrombocytopenia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4036 ! FYB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0035444
name: acute mast cell leukemia
def: "A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor." [Orphanet:566393]
subset: gard_rare {source="GARD:22276", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:566393"}
subset: rare
synonym: "Acute MCL" EXACT [Orphanet:566393]
xref: GARD:22276 {source="MONDO:GARD"}
xref: ICD10CM:C94.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566393"}
xref: MEDGEN:1843106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:566393 {source="MONDO:equivalentTo"}
xref: UMLS:C5680128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843106"}
is_a: MONDO:0007950 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mastocytosis
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6342 ! KIT

[Term]
id: MONDO:0035445
name: chronic mast cell leukemia
def: "A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress." [Orphanet:566396]
subset: gard_rare {source="GARD:22277", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:566396"}
subset: rare
synonym: "Chronic MCL" EXACT [Orphanet:566396]
xref: GARD:22277 {source="MONDO:GARD"}
xref: ICD10CM:C94.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566396"}
xref: MEDGEN:1843226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:566396 {source="MONDO:equivalentTo"}
xref: UMLS:C5680130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843226"}
is_a: MONDO:0007950 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mastocytosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6342 ! KIT

[Term]
id: MONDO:0035447
name: liver adenomatosis
def: "A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases." [Orphanet:566841]
subset: gard_rare {source="GARD:22278", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:566841"}
subset: orphanet_rare {source="Orphanet:566841"}
subset: rare
synonym: "Hepatic adenomatosis" EXACT [Orphanet:566841]
xref: GARD:22278 {source="MONDO:GARD"}
xref: ICD10CM:D13.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566841"}
xref: MEDGEN:1803906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:566841 {source="MONDO:equivalentTo"}
xref: UMLS:C5680136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803906"}
is_a: MONDO:0024477 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! liver and intrahepatic bile duct neoplasm

[Term]
id: MONDO:0035448
name: obsolete aprosencephaly/atelencephaly spectrum
def: "OBSOLETE. A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. [Orphanet:566847]" [Orphanet:566847]
subset: ordo_disorder {source="Orphanet:566847"}
xref: GARD:22279 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:566847 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035449
name: atelencephaly
subset: gard_rare {source="GARD:22280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:566852"}
subset: rare
synonym: "atelencephalic microcephaly" EXACT [Orphanet:566852]
xref: GARD:22280 {source="MONDO:GARD"}
xref: MEDGEN:98461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:566852 {source="MONDO:equivalentTo"}
xref: UMLS:C0431348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98461"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0035450
name: aprosencephaly
subset: gard_rare {source="GARD:22281", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:566857"}
subset: rare
xref: GARD:22281 {source="MONDO:GARD"}
xref: MEDGEN:140908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98824 {source="MONDO:equivalentTo"}
xref: Orphanet:566857 {source="MONDO:equivalentTo"}
xref: UMLS:C0431349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140908"}
is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0035451
name: obsolete left sided atrial isomerism
subset: ordo_disorder {source="Orphanet:566862"}
xref: GARD:22282 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:566862 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true
consider: HP:0011537

[Term]
id: MONDO:0035452
name: mueller-weiss syndrome
def: "A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures." [Orphanet:566943]
subset: gard_rare {source="GARD:22283", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:566943"}
subset: orphanet_rare {source="Orphanet:566943"}
subset: rare
synonym: "Brailsford disease" EXACT [Orphanet:566943]
synonym: "Mueller-Weiss osteonecrosis of the tarsal bone" EXACT [Orphanet:566943]
xref: GARD:22283 {source="MONDO:GARD"}
xref: MEDGEN:1708314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:566943 {source="MONDO:equivalentTo"}
xref: UMLS:C4761149 {source="MEDGEN:1708314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005381 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! bone disorder

[Term]
id: MONDO:0035454
name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
subset: gard_rare {source="GARD:22284", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:567502"}
subset: orphanet_rare {source="Orphanet:567502"}
subset: rare
synonym: "BILU syndrome" EXACT [Orphanet:567502]
synonym: "Hoffman syndrome" EXACT [Orphanet:567502]
xref: GARD:22284 {source="MONDO:GARD"}
xref: Orphanet:567502 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11990 ! TOP2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7847" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0035459
name: idiopathic multidrug-resistant nephrotic syndrome
subset: gard_rare {source="GARD:22287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:567550"}
subset: rare
xref: GARD:22287 {source="MONDO:GARD"}
xref: ICD10CM:N04.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:567550"}
xref: MEDGEN:1842472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:567550 {source="MONDO:equivalentTo"}
xref: UMLS:C5681293 {source="MEDGEN:1842472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018170 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic nephrotic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18143 {source="Orphanet:567550"} ! DAAM2

[Term]
id: MONDO:0035460
name: idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
subset: gard_rare {source="GARD:22288", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:567552"}
subset: rare
synonym: "idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression" EXACT [Orphanet:567552]
xref: GARD:22288 {source="MONDO:GARD"}
xref: ICD10CM:N04.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:567552"}
xref: MEDGEN:1842217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:567552 {source="MONDO:equivalentTo"}
xref: UMLS:C5680133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842217"}
is_a: MONDO:0018170 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic nephrotic syndrome

[Term]
id: MONDO:0035461
name: obsolete systemic disease with glomerulopathy as a major feature
subset: ordo_group_of_disorders {source="Orphanet:567554"}
xref: GARD:22289 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:567554 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035466
name: obsolete nephrotic syndrome without extrarenal manifestations
subset: ordo_group_of_disorders {source="Orphanet:567564"}
xref: GARD:22294 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:567564 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0005377

[Term]
id: MONDO:0035469
name: obsolete primary lymphedema without systemic or visceral involvement
subset: ordo_group_of_disorders {source="Orphanet:568041"}
xref: GARD:22296 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:568041 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0019175

[Term]
id: MONDO:0035470
name: obsolete primary lymphedema with systemic or visceral involvement
subset: ordo_group_of_disorders {source="Orphanet:568044"}
xref: GARD:22297 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:568044 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0019175

[Term]
id: MONDO:0035471
name: obsolete disorder with multisystemic involvement and primary lymphedema
subset: ordo_group_of_disorders {source="Orphanet:568047"}
xref: GARD:22298 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:568047 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035472
name: GJC2-related late-onset primary lymphedema
def: "A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association." [Orphanet:568051]
subset: gard_rare {source="GARD:22299", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:568051"}
subset: orphanet_rare {source="Orphanet:568051"}
subset: rare
xref: GARD:22299 {source="MONDO:GARD"}
xref: MEDGEN:1809328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:568051 {source="MONDO:equivalentTo"}
xref: UMLS:C5681305 {source="MEDGEN:1809328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema

[Term]
id: MONDO:0035473
name: warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
def: "A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported." [Orphanet:568056]
subset: gard_rare {source="GARD:22300", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:568056"}
subset: orphanet_rare {source="Orphanet:568056"}
subset: rare
synonym: "disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome" EXACT [Orphanet:568056]
synonym: "WILD syndrome" EXACT [Orphanet:568056]
xref: GARD:22300 {source="MONDO:GARD"}
xref: MEDGEN:1799992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:568056 {source="MONDO:equivalentTo"}
xref: UMLS:C5568569 {source="MEDGEN:1799992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema

[Term]
id: MONDO:0035474
name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
def: "A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent." [Orphanet:568062]
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0014797 lymphatic malformation 6
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22301", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:568062"}
subset: orphanet_rare {source="Orphanet:568062"}
subset: rare
synonym: "generalised lymphatic dysplasia of Fotiou" EXACT OMO:0003005 []
synonym: "generalized lymphatic dysplasia of Fotiou" EXACT [Orphanet:568062]
synonym: "PIEZO1-related generalised lymphatic dysplasia with systemic involvement" EXACT OMO:0003005 []
synonym: "PIEZO1-related generalized lymphatic dysplasia with systemic involvement" EXACT [Orphanet:568062]
synonym: "PIEZO1-related LRHF/GLD" EXACT [Orphanet:568062]
synonym: "PIEZO1-related lymphatic-related hydrops fetalis" EXACT [Orphanet:568062]
xref: GARD:22301 {source="MONDO:GARD"}
xref: Orphanet:568062 {source="MONDO:equivalentTo"}
is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7846" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0035475
name: EPHB4-related lymphatic-related hydrops fetalis
def: "A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients." [Orphanet:568065]
subset: gard_rare {source="GARD:22302", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:568065"}
subset: orphanet_rare {source="Orphanet:568065"}
subset: rare
synonym: "EPHB4-related generalised lymphatic dysplasia with atrial septal defect" EXACT OMO:0003005 []
synonym: "EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis" EXACT OMO:0003005 []
synonym: "EPHB4-related generalized lymphatic dysplasia with atrial septal defect" EXACT [Orphanet:568065]
synonym: "EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis" EXACT [Orphanet:568065]
synonym: "EPHB4-related LRHF/GLD" EXACT [Orphanet:568065]
xref: GARD:22302 {source="MONDO:GARD"}
xref: MEDGEN:1802765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:568065 {source="MONDO:equivalentTo"}
xref: UMLS:C5680140 {source="MONDO:equivalentTo", source="MEDGEN:1802765", source="MONDO:MEDGEN"}
is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema

[Term]
id: MONDO:0035499
name: CELSR1-related late-onset primary lymphedema
def: "A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux." [Orphanet:569816]
subset: gard_rare {source="GARD:22306", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:569816"}
subset: orphanet_rare {source="Orphanet:569816"}
subset: rare
xref: GARD:22306 {source="MONDO:GARD"}
xref: MEDGEN:1802645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:569816 {source="MONDO:equivalentTo"}
xref: UMLS:C5681848 {source="MEDGEN:1802645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema

[Term]
id: MONDO:0035500
name: congenital primary lymphedema of Gordon
def: "A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy." [Orphanet:569821]
subset: gard_rare {source="GARD:22307", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:569821"}
subset: orphanet_rare {source="Orphanet:569821"}
subset: rare
synonym: "VEGFC-related congenital primary lymphedema" EXACT [Orphanet:569821]
xref: GARD:22307 {source="MONDO:GARD"}
xref: MEDGEN:1804948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:569821 {source="MONDO:equivalentTo"}
xref: UMLS:C5680138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804948"}
is_a: MONDO:0019175 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! primary lymphedema
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12682 {source="Orphanet:569821"} ! VEGFC

[Term]
id: MONDO:0035511
name: ricin poisoning
def: "A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure." [Orphanet:570470]
subset: gard_rare {source="GARD:22311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:570470"}
subset: orphanet_rare {source="Orphanet:570470"}
subset: rare
xref: GARD:22311 {source="MONDO:GARD"}
xref: ICD10CM:T62.2 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:570470"}
xref: Orphanet:570470 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! poisoning

[Term]
id: MONDO:0035521
name: blepharophimosis-ptosis-epicanthus inversus syndrome plus
subset: gard_rare {source="GARD:22312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:572333"}
subset: orphanet_rare {source="Orphanet:572333"}
subset: rare
synonym: "3q23 microdeletion syndrome" EXACT [Orphanet:572333]
synonym: "BPES plus" EXACT [Orphanet:572333]
xref: GARD:22312 {source="MONDO:GARD"}
xref: MEDGEN:1761196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:572333 {source="MONDO:equivalentTo"}
xref: UMLS:C5437588 {source="MONDO:equivalentTo", source="MEDGEN:1761196", source="MONDO:MEDGEN"}
is_a: MONDO:0016868 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of chromosome 3
relationship: disease_arises_from_structure CHR:9606-chr3q23 {source="https://orcid.org/0000-0002-4142-7153"} ! 3q23 (Human)

[Term]
id: MONDO:0035524
name: blepharophimosis-ptosis-epicanthus inversus syndrome type 1
subset: gard_rare {source="GARD:18008", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:572354"}
subset: rare
synonym: "blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure" EXACT [Orphanet:572354]
synonym: "BPES type 1" EXACT [Orphanet:572354]
xref: GARD:18008 {source="MONDO:GARD"}
xref: MEDGEN:1843155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:572354 {source="MONDO:equivalentTo"}
xref: UMLS:C5680365 {source="MEDGEN:1843155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007201 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="Orphanet:572354"} ! FOXL2

[Term]
id: MONDO:0035525
name: blepharophimosis-ptosis-epicanthus inversus syndrome type 2
subset: gard_rare {source="GARD:10213", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:572361"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure" EXACT [Orphanet:572361]
synonym: "BPES type 2" EXACT [Orphanet:572361]
xref: GARD:10213 {source="MONDO:GARD"}
xref: MEDGEN:1842581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:572361 {source="MONDO:equivalentTo"}
xref: UMLS:C5680363 {source="MEDGEN:1842581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007201 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="Orphanet:572361"} ! FOXL2

[Term]
id: MONDO:0035529
name: infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
def: "A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly." [Orphanet:572428]
subset: gard_rare {source="GARD:22313", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:572428"}
subset: orphanet_rare {source="Orphanet:572428"}
subset: rare
synonym: "OAS1 deficiency" EXACT [Orphanet:572428]
synonym: "OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia" EXACT [Orphanet:572428]
xref: GARD:22313 {source="MONDO:GARD"}
xref: MEDGEN:1810375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:572428 {source="MONDO:equivalentTo"}
xref: UMLS:C5680364 {source="MEDGEN:1810375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! respiratory system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8086 ! OAS1

[Term]
id: MONDO:0035534
name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
def: "A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe." [Orphanet:572761]
subset: gard_rare {source="GARD:22314", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:572761"}
subset: orphanet_rare {source="Orphanet:572761"}
subset: rare
xref: GARD:22314 {source="MONDO:GARD"}
xref: MEDGEN:1814482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:572761 {source="MONDO:equivalentTo"}
xref: UMLS:C5681722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814482"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease

[Term]
id: MONDO:0035540
name: pheochromocytoma-paraganglioma
def: "A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications." [Orphanet:573163]
subset: gard_rare {source="GARD:22315", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:573163"}
subset: rare
xref: GARD:22315 {source="MONDO:GARD"}
xref: MEDGEN:1826130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:573163 {source="MONDO:equivalentTo"}
xref: UMLS:C5681712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826130"}
is_a: MONDO:0021227 {source="Orphanet:573163"} ! adrenal gland neoplasm

[Term]
id: MONDO:0035541
name: obsolete split cord malformation type II
subset: ordo_disorder {source="Orphanet:573253"}
xref: GARD:22316 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:573253 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035542
name: obsolete split cord malformation
subset: ordo_group_of_disorders {source="Orphanet:573278"}
xref: GARD:22317 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:573278 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035547
name: predisposition to severe viral infection due to IRF7 deficiency
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0014597 Immunodeficiency 39
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_disorder {source="Orphanet:574918"}
subset: orphanet_rare {source="Orphanet:574918"}
subset: rare
xref: ICD10CM:D84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:574918"}
xref: MEDGEN:1830120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:574918 {source="MONDO:equivalentTo"}
xref: UMLS:C5681719 {source="MEDGEN:1830120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7513" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0035548
name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:574957"}
subset: orphanet_rare {source="Orphanet:574957"}
subset: rare
synonym: "Autosomal recessive MSMD due to partial JAK1 deficiency" EXACT [Orphanet:574957]
xref: ICD10CM:D84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:574957"}
xref: MEDGEN:1830105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:574957 {source="MONDO:equivalentTo"}
xref: UMLS:C5680361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830105"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6190 ! JAK1

[Term]
id: MONDO:0035551
name: cathepsin a-related arteriopathy-strokes-leukoencephalopathy
def: "A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease." [Orphanet:575553]
subset: gard_rare {source="GARD:22320", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:575553"}
subset: orphanet_rare {source="Orphanet:575553"}
subset: rare
synonym: "CARASAL" EXACT ABBREVIATION [Orphanet:575553]
xref: GARD:22320 {source="MONDO:GARD"}
xref: ICD10CM:I67.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:575553"}
xref: MEDGEN:1804103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:575553 {source="MONDO:equivalentTo"}
xref: UMLS:C5680354 {source="MEDGEN:1804103", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011057 {source="https://orcid.org/0000-0001-5208-3432"} ! cerebrovascular disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9251 ! CTSA

[Term]
id: MONDO:0035554
name: obsolete complete atrioventricular septal defect without ventricular hypoplasia
subset: ordo_subtype_of_a_disorder {source="Orphanet:576227"}
xref: GARD:22322 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:576227 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035555
name: obsolete partial atrioventricular septal defect with ventricular hypoplasia
subset: ordo_subtype_of_a_disorder {source="Orphanet:576232"}
xref: GARD:22323 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:576232 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035556
name: obsolete partial atrioventricular septal defect without ventricular hypoplasia
subset: ordo_subtype_of_a_disorder {source="Orphanet:576235"}
xref: GARD:22324 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:576235 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035557
name: obsolete intermediate atrioventricular septal defect
subset: ordo_disorder {source="Orphanet:576242"}
xref: GARD:22325 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:576242 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035561
name: obsolete sporadic human prion disease
subset: ordo_group_of_disorders {source="Orphanet:576356"}
synonym: "idiopathic human prion disease" EXACT [Orphanet:576356]
xref: GARD:22327 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:576356 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035562
name: acquired human prion disease
subset: gard_rare {source="GARD:22328", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:576360"}
subset: rare
synonym: "infectious human prion disease" EXACT [Orphanet:576360]
xref: GARD:22328 {source="MONDO:GARD"}
xref: MEDGEN:1842786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:576360 {source="MONDO:equivalentTo"}
xref: UMLS:C5680357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842786"}
is_a: MONDO:0018926 {source="Orphanet:576360", source="https://orcid.org/0000-0001-5208-3432"} ! human prion disease

[Term]
id: MONDO:0035581
name: obsolete lethal brain and heart developmental defects
def: "OBSOLETE. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. [Orphanet:580933]" []
subset: ordo_disorder {source="Orphanet:580933"}
xref: GARD:22332 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:580933 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035584
name: punctate inner choroidopathy
def: "A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females." [Orphanet:580951]
subset: gard_rare {source="GARD:7503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:580951"}
subset: orphanet_rare {source="Orphanet:580951"}
subset: rare
xref: GARD:7503 {source="MONDO:GARD"}
xref: ICD10CM:H31.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:580951"}
xref: MEDGEN:152679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:580951 {source="MONDO:equivalentTo"}
xref: UMLS:C0730321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152679"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder

[Term]
id: MONDO:0035586
name: Cramp-fasciculation syndrome
subset: gard_rare {source="GARD:6205", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:581271"}
subset: orphanet_rare {source="Orphanet:581271"}
subset: rare
xref: GARD:6205 {source="MONDO:GARD"}
xref: ICD10CM:G90.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:581271"}
xref: MEDGEN:148299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:581271 {source="MONDO:equivalentTo"}
xref: UMLS:C0751381 {source="MEDGEN:148299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0035592
name: congenital infiltrating lipomatosis of the face
subset: gard_rare {source="GARD:22333", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:583097"}
subset: orphanet_rare {source="Orphanet:583097"}
subset: rare
synonym: "CIL-F" EXACT [Orphanet:583097]
synonym: "facial infused lipomatosis" EXACT [Orphanet:583097]
synonym: "fibroadipose infiltrating lipomatosis" EXACT [Orphanet:583097]
xref: GARD:22333 {source="MONDO:GARD"}
xref: ICD10CM:Q87.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:583097"}
xref: MEDGEN:1814459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:583097 {source="MONDO:equivalentTo"}
xref: UMLS:C5680341 {source="MEDGEN:1814459", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006574 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! lipomatosis

[Term]
id: MONDO:0035605
name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
subset: gard_rare {source="GARD:22341", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:585877"}
subset: rare
xref: GARD:22341 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:585877"}
xref: MEDGEN:396322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80328 {source="MONDO:equivalentTo"}
xref: Orphanet:585877 {source="MONDO:equivalentTo"}
xref: UMLS:C2698313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396322"}
is_a: MONDO:0003538 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! precursor lymphoblastic lymphoma/leukemia

[Term]
id: MONDO:0035614
name: sporadic fatal insomnia
def: "A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years." [Orphanet:586130]
subset: gard_rare {source="GARD:22349", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:586130"}
subset: orphanet_rare {source="Orphanet:586130"}
subset: rare
xref: GARD:22349 {source="MONDO:GARD"}
xref: ICD10CM:A81.9 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:586130"}
xref: MEDGEN:1799312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:586130 {source="MONDO:equivalentTo"}
xref: UMLS:C5567889 {source="MEDGEN:1799312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005429 {source="https://orcid.org/0000-0002-4142-7153"} ! prion disease
is_a: MONDO:0018926 {source="https://orcid.org/0000-0002-4142-7153"} ! human prion disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9449 ! PRNP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6671" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0035635
name: obsolete short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4928" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0030045

[Term]
id: MONDO:0035639
name: mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
subset: gard_rare {source="GARD:22354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:589534"}
subset: rare
synonym: "MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT [Orphanet:589534]
xref: GARD:22354 {source="MONDO:GARD"}
xref: ICD10CM:C92.7 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589534"}
xref: MEDGEN:1842390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589534 {source="MONDO:equivalentTo"}
xref: UMLS:C5680315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842390"}
is_a: MONDO:0020743 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3765 {source="Orphanet:589534"} ! FLT3

[Term]
id: MONDO:0035642
name: mixed phenotype acute leukemia with t(v;11q23.3)
subset: gard_rare {source="GARD:22357", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:589595"}
subset: rare
synonym: "MPAL with t(v;11q23.3); KMT2A rearranged" EXACT [Orphanet:589595]
synonym: "MPAL with t(v;11q23.3); MLL rearranged" EXACT [Orphanet:589595]
xref: GARD:22357 {source="MONDO:GARD"}
xref: ICD10CM:C92.6 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589595"}
xref: MEDGEN:1843062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C82203 {source="MONDO:equivalentTo"}
xref: Orphanet:589595 {source="MONDO:equivalentTo"}
xref: UMLS:C5680314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843062"}
is_a: MONDO:0020743 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia
relationship: has_characteristic PATO:0000389 ! acute
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3765 {source="Orphanet:589595"} ! FLT3

[Term]
id: MONDO:0035645
name: obsolete inherited gynecological cancer-predisposing syndrome
subset: ordo_group_of_disorders {source="Orphanet:589746"}
xref: GARD:22360 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:589746 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035646
name: congenital-onset Steinert myotonic dystrophy
subset: gard_rare {source="GARD:22361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:589821"}
subset: rare
synonym: "Congenital-onset myotonic dystrophy type 1" EXACT [Orphanet:589821]
synonym: "Congenital-onset Steinert disease" EXACT [Orphanet:589821]
xref: GARD:22361 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589821"}
xref: MEDGEN:1842512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589821 {source="MONDO:equivalentTo"}
xref: UMLS:C5680305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842512"}
is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2933 ! DMPK

[Term]
id: MONDO:0035647
name: childhood-onset Steinert myotonic dystrophy
subset: gard_rare {source="GARD:22362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:589824"}
subset: rare
synonym: "Childhood-onset myotonic dystrophy type 1" EXACT [Orphanet:589824]
synonym: "Childhood-onset Steinert disease" EXACT [Orphanet:589824]
xref: GARD:22362 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589824"}
xref: MEDGEN:1842487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589824 {source="MONDO:equivalentTo"}
xref: UMLS:C5680307 {source="MEDGEN:1842487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy

[Term]
id: MONDO:0035648
name: juvenile-onset Steinert myotonic dystrophy
subset: gard_rare {source="GARD:22363", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:589827"}
subset: rare
synonym: "Juvenile-onset myotonic dystrophy type 1" EXACT [Orphanet:589827]
synonym: "Juvenile-onset Steinert disease" EXACT [Orphanet:589827]
xref: GARD:22363 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589827"}
xref: MEDGEN:1843227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589827 {source="MONDO:equivalentTo"}
xref: UMLS:C5680306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843227"}
is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy

[Term]
id: MONDO:0035649
name: adult-onset Steinert myotonic dystrophy
subset: gard_rare {source="GARD:22364", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:589830"}
subset: rare
synonym: "Adult-onset myotonic dystrophy type 1" EXACT [Orphanet:589830]
synonym: "Adult-onset Steinert disease" EXACT [Orphanet:589830]
xref: GARD:22364 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589830"}
xref: MEDGEN:1843180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589830 {source="MONDO:equivalentTo"}
xref: UMLS:C5680309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843180"}
is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy

[Term]
id: MONDO:0035650
name: late-onset Steinert myotonic dystrophy
subset: gard_rare {source="GARD:22365", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:589833"}
subset: rare
synonym: "Late-onset myotonic dystrophy type 1" EXACT [Orphanet:589833]
synonym: "Late-onset Steinert disease" EXACT [Orphanet:589833]
xref: GARD:22365 {source="MONDO:GARD"}
xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589833"}
xref: MEDGEN:1842603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589833 {source="MONDO:equivalentTo"}
xref: UMLS:C5680308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842603"}
is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy

[Term]
id: MONDO:0035651
name: choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
subset: gard_rare {source="GARD:22366", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:589856"}
subset: orphanet_rare {source="Orphanet:589856"}
subset: rare
synonym: "KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome" EXACT [Orphanet:589856]
xref: GARD:22366 {source="MONDO:GARD"}
xref: MEDGEN:1830104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:589856 {source="MONDO:equivalentTo"}
xref: UMLS:C5680310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830104"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7133 ! KMT2D

[Term]
id: MONDO:0035660
name: GNAO1-related developmental delay-seizures-movement disorder spectrum
subset: gard_rare {source="GARD:22369", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:592564"}
subset: orphanet_rare {source="Orphanet:592564"}
subset: rare
synonym: "GNAO1-related spectrum" EXACT [Orphanet:592564]
xref: GARD:22369 {source="MONDO:GARD"}
xref: ICD10CM:F84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592564"}
xref: MEDGEN:1830103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592564 {source="MONDO:equivalentTo"}
xref: UMLS:C5680303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830103"}
is_a: MONDO:0003847 {source="Orphanet:592564"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4389 ! GNAO1

[Term]
id: MONDO:0035661
name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
def: "A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus." [Orphanet:592570]
subset: gard_rare {source="GARD:22370", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:592570"}
subset: orphanet_rare {source="Orphanet:592570"}
subset: rare
xref: GARD:22370 {source="MONDO:GARD"}
xref: MEDGEN:1809140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592570 {source="MONDO:equivalentTo"}
xref: UMLS:C5681633 {source="MONDO:equivalentTo", source="MEDGEN:1809140", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20456 ! TRAF7

[Term]
id: MONDO:0035663
name: neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
subset: gard_rare {source="GARD:22372", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:592850"}
subset: rare
synonym: "Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies" EXACT [Orphanet:592850]
synonym: "NMOSD with anti-AQP4 antibodies" EXACT [Orphanet:592850]
xref: GARD:22372 {source="MONDO:GARD"}
xref: ICD10CM:G36.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592850"}
xref: icd11.foundation:73324466 {source="MONDO:equivalentTo", source="Orphanet:592850", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:1842475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592850 {source="MONDO:equivalentTo"}
xref: UMLS:C5680295 {source="MONDO:equivalentTo", source="MEDGEN:1842475", source="MONDO:MEDGEN"}
is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica

[Term]
id: MONDO:0035664
name: neuromyelitis optica spectrum disorder with anti-MOG antibodies
subset: gard_rare {source="GARD:22373", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:592856"}
subset: rare
synonym: "Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592856]
synonym: "NMOSD with anti-MOG antibodies" EXACT [Orphanet:592856]
xref: GARD:22373 {source="MONDO:GARD"}
xref: ICD10CM:G36.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592856"}
xref: icd11.foundation:605048789 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:592856"}
xref: MEDGEN:1843203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592856 {source="MONDO:equivalentTo"}
xref: UMLS:C5680296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843203"}
is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica

[Term]
id: MONDO:0035665
name: neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
subset: gard_rare {source="GARD:22374", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:592869"}
subset: rare
synonym: "Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies" EXACT [Orphanet:592869]
synonym: "NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies" EXACT [Orphanet:592869]
xref: GARD:22374 {source="MONDO:GARD"}
xref: ICD10CM:G36.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592869"}
xref: MEDGEN:1842615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592869 {source="MONDO:equivalentTo"}
xref: UMLS:C5680297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842615"}
is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica

[Term]
id: MONDO:0035666
name: acute transverse myelitis with anti-MOG antibodies
subset: gard_rare {source="GARD:22375", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:592873"}
subset: rare
synonym: "Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592873]
xref: GARD:22375 {source="MONDO:GARD"}
xref: ICD10CM:G37.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592873"}
xref: MEDGEN:1842662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592873 {source="MONDO:equivalentTo"}
xref: UMLS:C5680298 {source="MONDO:equivalentTo", source="MEDGEN:1842662", source="MONDO:MEDGEN"}
is_a: MONDO:0015342 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute transverse myelitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0035667
name: isolated optic neuritis without anti-MOG antibodies
subset: gard_rare {source="GARD:22376", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592885]
xref: GARD:22376 {source="MONDO:GARD"}
xref: MEDGEN:1843279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592885 {source="MONDO:equivalentTo"}
xref: UMLS:C5680299 {source="MEDGEN:1843279", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044688 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated optic neuritis

[Term]
id: MONDO:0035668
name: isolated optic neuritis with anti-MOG antibodies
subset: gard_rare {source="GARD:22377", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592888]
xref: GARD:22377 {source="MONDO:GARD"}
xref: MEDGEN:1842982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592888 {source="MONDO:equivalentTo"}
xref: UMLS:C5680300 {source="MEDGEN:1842982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044688 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated optic neuritis

[Term]
id: MONDO:0035669
name: acute disseminated encephalomyelitis with anti-MOG antibodies
subset: gard_rare {source="GARD:22378", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:592894"}
subset: rare
synonym: "Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592894]
synonym: "ADEM with anti-MOG antibodies" EXACT [Orphanet:592894]
xref: GARD:22378 {source="MONDO:GARD"}
xref: ICD10CM:G04.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592894"}
xref: MEDGEN:1842363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592894 {source="MONDO:equivalentTo"}
xref: UMLS:C5680301 {source="MEDGEN:1842363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019383 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute disseminated encephalomyelitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0035670
name: acute disseminated encephalomyelitis without anti-MOG antibodies
subset: gard_rare {source="GARD:22379", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:592900"}
subset: rare
synonym: "Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592900]
xref: GARD:22379 {source="MONDO:GARD"}
xref: ICD10CM:G04.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:592900"}
xref: MEDGEN:1843027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:592900 {source="MONDO:equivalentTo"}
xref: UMLS:C5680302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843027"}
is_a: MONDO:0019383 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute disseminated encephalomyelitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0035678
name: Timothy syndrome type 1
def: "Classical Timothy syndrome with cutaneous syndactyly." [https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="GARD:22380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:595098"}
subset: rare
synonym: "LQT8 type 1" EXACT [Orphanet:595098]
synonym: "TS1" EXACT [Orphanet:595098]
xref: GARD:22380 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:595098"}
xref: MEDGEN:1802409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:595098 {source="MONDO:equivalentTo"}
xref: UMLS:C5574939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802409"}
is_a: MONDO:0021171 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Timothy syndrome, classic type
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1390 ! CACNA1C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4746" xsd:anyURI

[Term]
id: MONDO:0035679
name: Timothy syndrome type 2
def: "Classical Timothy syndrome without cutaneous syndactyly." [https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="GARD:22381", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:595105"}
subset: rare
synonym: "LQT8 type 2" EXACT [Orphanet:595105]
synonym: "TS2" EXACT [Orphanet:595105]
xref: GARD:22381 {source="MONDO:GARD"}
xref: ICD10CM:I49.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:595105"}
xref: MEDGEN:930016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:595105 {source="MONDO:equivalentTo"}
xref: UMLS:C4304347 {source="MEDGEN:930016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021171 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Timothy syndrome, classic type
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4746" xsd:anyURI

[Term]
id: MONDO:0035682
name: obsolete fibrous dysplasia/McCune-Albright syndrome
subset: ordo_group_of_disorders {source="Orphanet:595216"}
synonym: "FD/MAS spectrum" EXACT [Orphanet:595216]
synonym: "FD/MAS syndrome" EXACT [Orphanet:595216]
synonym: "Fibrous dysplasia/McCune-Albright spectrum" EXACT [Orphanet:595216]
xref: GARD:22384 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:595216 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035683
name: obsolete adrenal hypoplasia congenita
subset: ordo_group_of_disorders {source="Orphanet:595337"}
xref: GARD:22385 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:595337 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true
consider: HP:0008244

[Term]
id: MONDO:0035684
name: obsolete epidermolysis bullosa simplex without extracutaneous involvement
subset: ordo_group_of_disorders {source="Orphanet:595346"}
synonym: "EBS without extracutaneous involvement" EXACT [Orphanet:595346]
xref: GARD:22386 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:595346 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035685
name: obsolete epidermolysis bullosa simplex with extracutaneous involvement
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:595351"}
synonym: "EBS with extracutaneous involvement" EXACT [Orphanet:595351]
xref: GARD:22387 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:595351 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035689
name: obsolete syndrome of reduced sensitivity to thyroid hormone
subset: ordo_group_of_disorders {source="Orphanet:596426"}
xref: GARD:22390 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:596426 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035694
name: combined immunodeficiency due to RELA haploinsufficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22392", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:596759"}
subset: orphanet_rare {source="Orphanet:596759"}
subset: rare
synonym: "CID due to RELA haploinsufficiency" EXACT [Orphanet:596759]
xref: GARD:22392 {source="MONDO:GARD"}
xref: MEDGEN:1843216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:596759 {source="MONDO:equivalentTo"}
xref: UMLS:C5680288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843216"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency

[Term]
id: MONDO:0035696
name: incomplete septal cirrhosis
def: "A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma." [Orphanet:596941]
subset: gard_rare {source="GARD:22394", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:596941"}
subset: rare
synonym: "Incomplete septal fibrosis" EXACT [Orphanet:596941]
xref: GARD:22394 {source="MONDO:GARD"}
xref: ICD10CM:K74.6 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:596941"}
xref: MEDGEN:1387804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:596941 {source="MONDO:equivalentTo"}
xref: UMLS:C0544815 {source="MEDGEN:1387804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0035357 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! portosinusoidal vascular disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0035706
name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
subset: gard_rare {source="GARD:22397", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597743"}
subset: orphanet_rare {source="Orphanet:597743"}
subset: rare
xref: GARD:22397 {source="MONDO:GARD"}
xref: MEDGEN:1843293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:597743 {source="MONDO:equivalentTo"}
xref: UMLS:C5681587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843293"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0800477 {source="https://clinicalgenome.org/affiliation/40006/"} ! SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6599" xsd:anyURI

[Term]
id: MONDO:0035707
name: blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
subset: gard_rare {source="GARD:22398", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597746"}
subset: orphanet_rare {source="Orphanet:597746"}
subset: rare
xref: GARD:22398 {source="MONDO:GARD"}
xref: MEDGEN:1842711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:597746 {source="MONDO:equivalentTo"}
xref: UMLS:C5681588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842711"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0035713
name: FOXG1 syndrome due to intragenic alteration
subset: gard_rare {source="GARD:22402", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:598164"}
subset: rare
xref: GARD:22402 {source="MONDO:GARD"}
xref: MEDGEN:1842594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:598164 {source="MONDO:equivalentTo"}
xref: UMLS:C5681589 {source="MEDGEN:1842594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100040 {source="https://orcid.org/0000-0001-5208-3432"} ! FOXG1 disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0035734
name: hereditary angioedema with normal C1inh not related to F12 or PLG variant
subset: gard_rare {source="GARD:22406", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:599418"}
subset: rare
xref: GARD:22406 {source="MONDO:GARD"}
xref: MEDGEN:1843147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:599418 {source="MONDO:equivalentTo"}
xref: UMLS:C5681601 {source="MEDGEN:1843147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019623 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary angioedema

[Term]
id: MONDO:0035735
name: acquired hemophilia A
def: "An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions." [PMID:31632887]
subset: gard_rare {source="GARD:6405", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599480"}
subset: orphanet_rare {source="Orphanet:599480"}
subset: rare
synonym: "AHA" EXACT ABBREVIATION [Orphanet:599480]
xref: GARD:6405 {source="MONDO:GARD"}
xref: MEDGEN:124426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536392 {source="MONDO:equivalentTo"}
xref: NCIT:C35345 {source="MONDO:equivalentTo"}
xref: Orphanet:599480 {source="MONDO:equivalentTo"}
xref: UMLS:C0272325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124426"}
is_a: MONDO:0019139 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acquired hemophilia

[Term]
id: MONDO:0035736
name: acquired hemophilia B
subset: gard_rare {source="GARD:22407", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599485"}
subset: orphanet_rare {source="Orphanet:599485"}
subset: rare
synonym: "AHB" EXACT [Orphanet:599485]
xref: GARD:22407 {source="MONDO:GARD"}
xref: MEDGEN:98305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:599485 {source="MONDO:equivalentTo"}
xref: UMLS:C0398609 {source="MEDGEN:98305", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019139 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acquired hemophilia

[Term]
id: MONDO:0035737
name: acquired factor V deficiency
subset: gard_rare {source="GARD:22408", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599490"}
subset: orphanet_rare {source="Orphanet:599490"}
subset: rare
xref: GARD:22408 {source="MONDO:GARD"}
xref: MEDGEN:1380582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131624 {source="MONDO:equivalentTo"}
xref: Orphanet:599490 {source="MONDO:equivalentTo"}
xref: UMLS:C4329256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1380582"}
is_a: MONDO:0020586 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor V deficiency
is_a: MONDO:0020599 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acquired coagulation factor deficiency
intersection_of: MONDO:0020586 ! factor V deficiency
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0035738
name: acquired factor VII deficiency
subset: gard_rare {source="GARD:22409", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599495"}
subset: orphanet_rare {source="Orphanet:599495"}
subset: rare
xref: GARD:22409 {source="MONDO:GARD"}
xref: MEDGEN:1388639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131625 {source="MONDO:equivalentTo"}
xref: Orphanet:599495 {source="MONDO:equivalentTo"}
xref: UMLS:C4331989 {source="MEDGEN:1388639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002244 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor VII deficiency
is_a: MONDO:0020599 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acquired coagulation factor deficiency
intersection_of: MONDO:0002244 ! factor VII deficiency
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0035740
name: acquired factor XI deficiency
subset: gard_rare {source="GARD:22411", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599507"}
subset: orphanet_rare {source="Orphanet:599507"}
subset: rare
synonym: "aFXI" EXACT ABBREVIATION [Orphanet:599507]
xref: GARD:22411 {source="MONDO:GARD"}
xref: MEDGEN:1376431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131627 {source="MONDO:equivalentTo"}
xref: Orphanet:599507 {source="MONDO:equivalentTo"}
xref: UMLS:C4329257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376431"}
is_a: MONDO:0020587 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor XI deficiency
is_a: MONDO:0020599 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acquired coagulation factor deficiency
intersection_of: MONDO:0020587 ! factor XI deficiency
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0035742
name: factor V short isoforms-related bleeding disorder
subset: gard_rare {source="GARD:22413", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:599519"}
subset: orphanet_rare {source="Orphanet:599519"}
subset: rare
synonym: "FV short isoforms-related bleeding disorder" EXACT [Orphanet:599519]
xref: GARD:22413 {source="MONDO:GARD"}
xref: MEDGEN:1843125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:599519 {source="MONDO:equivalentTo"}
xref: UMLS:C5680279 {source="MEDGEN:1843125", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! coagulation protein disease

[Term]
id: MONDO:0035743
name: factor V amsterdam bleeding disorder
subset: gard_rare {source="GARD:22414", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:599579"}
subset: rare
xref: GARD:22414 {source="MONDO:GARD"}
xref: MEDGEN:1842961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:599579 {source="MONDO:equivalentTo"}
xref: UMLS:C5681605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842961"}
is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! coagulation protein disease

[Term]
id: MONDO:0035759
name: factor V atlanta bleeding disorder
subset: gard_rare {source="GARD:22415", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:600194"}
subset: rare
xref: GARD:22415 {source="MONDO:GARD"}
xref: MEDGEN:1842929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:600194 {source="MONDO:equivalentTo"}
xref: UMLS:C5681543 {source="MEDGEN:1842929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! coagulation protein disease

[Term]
id: MONDO:0035763
name: idiopathic non-lupus full-house nephropathy
subset: gard_rare {source="GARD:22285", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:567544"}
subset: orphanet_rare {source="Orphanet:567544"}
subset: rare
synonym: "Idiopathic non-lupus FHN" EXACT [Orphanet:567544]
xref: GARD:22285 {source="MONDO:GARD"}
xref: ICD10CM:N05 {source="Orphanet:567544"}
xref: MEDGEN:1830099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:567544 {source="MONDO:equivalentTo"}
xref: UMLS:C5680132 {source="MEDGEN:1830099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! kidney disorder

[Term]
id: MONDO:0035764
name: idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
subset: gard_rare {source="GARD:22286", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:567546"}
subset: orphanet_rare {source="Orphanet:567546"}
subset: rare
synonym: "Idiopathic SSNS with secondary steroid resistance" EXACT [Orphanet:567546]
synonym: "Secondary SRNS" EXACT [Orphanet:567546]
synonym: "Secondary steroid-resistant nephrotic syndrome" EXACT [Orphanet:567546]
xref: GARD:22286 {source="MONDO:GARD"}
xref: ICD10CM:N04.8 {source="Orphanet:567546"}
xref: MEDGEN:1830098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:567546 {source="MONDO:equivalentTo"}
xref: UMLS:C5680131 {source="MEDGEN:1830098", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019067 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic steroid-sensitive nephrotic syndrome

[Term]
id: MONDO:0035774
name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
def: "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common." [Orphanet:600663]
subset: gard_rare {source="GARD:22416", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:600663"}
subset: orphanet_rare {source="Orphanet:600663"}
subset: rare
xref: GARD:22416 {source="MONDO:GARD"}
xref: MEDGEN:1842499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:600663 {source="MONDO:equivalentTo"}
xref: UMLS:C5681528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842499"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8008 ! NRXN1

[Term]
id: MONDO:0035775
name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
subset: gard_rare {source="GARD:22417", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:600668"}
subset: orphanet_rare {source="Orphanet:600668"}
subset: rare
xref: GARD:22417 {source="MONDO:GARD"}
xref: MEDGEN:1842919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:600668 {source="MONDO:equivalentTo"}
xref: UMLS:C5681527 {source="MEDGEN:1842919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1596 ! CCNK

[Term]
id: MONDO:0035776
name: combined deficiency of factor VII and factor X
subset: gard_rare {source="GARD:22418", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:600691"}
subset: orphanet_rare {source="Orphanet:600691"}
subset: rare
xref: GARD:22418 {source="MONDO:GARD"}
xref: MEDGEN:1843297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:600691 {source="MONDO:equivalentTo"}
xref: UMLS:C5681529 {source="MEDGEN:1843297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002242 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! coagulation protein disease

[Term]
id: MONDO:0035777
name: parenteral nutrition-associated cholestasis
def: "A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension." [Orphanet:567983]
subset: gard_rare {source="GARD:22295", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:567983"}
subset: orphanet_rare {source="Orphanet:567983"}
subset: rare
synonym: "PNAC" EXACT [Orphanet:567983]
xref: GARD:22295 {source="MONDO:GARD"}
xref: ICD10CM:K76.8 {source="Orphanet:567983"}
xref: icd11.foundation:1572634308 {source="Orphanet:567983", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:475934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:567983 {source="MONDO:equivalentTo"}
xref: UMLS:C3274301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:475934"}
is_a: MONDO:0001751 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! cholestasis

[Term]
id: MONDO:0035780
name: obsolete non-syndromic anorectal malformation with perineal fistula
subset: ordo_disorder {source="Orphanet:600952"}
xref: GARD:22420 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:600952 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035781
name: obsolete non-syndromic anorectal malformation with rectourethral fistula
subset: ordo_disorder {source="Orphanet:600961"}
xref: GARD:22421 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:600961 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035782
name: non-syndromic anorectal malformation with rectourethral fistula, bulbar type
subset: gard_rare {source="GARD:22422", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:600966"}
subset: rare
synonym: "Non-syndromic anorectal malformation with rectobulbar fistula" EXACT [Orphanet:600966]
synonym: "Non-syndromic ARM with rectobulbar fistula" EXACT [Orphanet:600966]
synonym: "Non-syndromic ARM with rectourethral fistula, bulbar type" EXACT [Orphanet:600966]
xref: GARD:22422 {source="MONDO:GARD"}
xref: MEDGEN:1843309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:600966 {source="MONDO:equivalentTo"}
xref: UMLS:C5680243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843309"}
is_a: MONDO:0019938 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! anorectal malformation

[Term]
id: MONDO:0035783
name: non-syndromic anorectal malformation with rectourethral fistula, prostatic type
subset: gard_rare {source="GARD:22423", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:600975"}
subset: rare
synonym: "Non-syndromic anorectal malformation with rectoprostatic fistula" EXACT [Orphanet:600975]
synonym: "Non-syndromic ARM with rectoprostatic fistula" EXACT [Orphanet:600975]
synonym: "Non-syndromic ARM with rectourethral fistula, prostatic type" EXACT [Orphanet:600975]
xref: GARD:22423 {source="MONDO:GARD"}
xref: MEDGEN:1842166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:600975 {source="MONDO:equivalentTo"}
xref: UMLS:C5680242 {source="MEDGEN:1842166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019938 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! anorectal malformation

[Term]
id: MONDO:0035784
name: obsolete non-syndromic anorectal malformation with rectovesical fistula
subset: ordo_disorder {source="Orphanet:600984"}
xref: GARD:22424 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:600984 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035785
name: obsolete non-syndromic anorectal malformation with vestibular fistula
subset: ordo_disorder {source="Orphanet:600993"}
xref: GARD:22425 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:600993 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035786
name: obsolete non-syndromic cloacal malformation
subset: ordo_disorder {source="Orphanet:600998"}
xref: GARD:22426 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:600998 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035787
name: obsolete non-syndromic anorectal malformation without fistula
subset: ordo_disorder {source="Orphanet:601002"}
xref: GARD:22427 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:601002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035788
name: obsolete non-syndromic anorectal malformation with anal stenosis
subset: ordo_disorder {source="Orphanet:601008"}
xref: GARD:22428 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:601008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035789
name: obsolete non-syndromic anorectal malformation with pouch colon
subset: ordo_disorder {source="Orphanet:601013"}
xref: GARD:22429 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:601013 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035790
name: obsolete non-syndromic anorectal malformation with rectal atresia
subset: ordo_disorder {source="Orphanet:601018"}
xref: GARD:22430 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:601018 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035791
name: obsolete non-syndromic anorectal malformation with rectal stenosis
subset: ordo_disorder {source="Orphanet:601023"}
xref: GARD:22431 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:601023 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035792
name: obsolete non-syndromic anorectal malformation with rectovaginal fistula
subset: ordo_disorder {source="Orphanet:601028"}
xref: GARD:22432 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:601028 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035793
name: obsolete non-syndromic anorectal malformation with h-type fistula
subset: ordo_disorder {source="Orphanet:601033"}
xref: GARD:22433 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:601033 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035819
name: cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
subset: gard_rare {source="GARD:18020", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:603448"}
subset: orphanet_rare {source="Orphanet:603448"}
subset: rare
synonym: "CIMDAG syndrome" EXACT [Orphanet:603448]
xref: GARD:18020 {source="MONDO:GARD"}
xref: MEDGEN:1780242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619273 {source="Orphanet:603448", source="MONDO:equivalentTo\""}
xref: Orphanet:603448 {source="MONDO:equivalentTo"}
xref: UMLS:C5543287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780242"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0035821
name: isolated female hypospadias
subset: gard_rare {source="GARD:22434", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:603515"}
subset: orphanet_rare {source="Orphanet:603515"}
subset: rare
xref: GARD:22434 {source="MONDO:GARD"}
xref: MEDGEN:1842898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:603515 {source="MONDO:equivalentTo"}
xref: UMLS:C5681495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842898"}
is_a: MONDO:0005345 {source="https://orcid.org/0000-0001-5208-3432"} ! hypospadias

[Term]
id: MONDO:0035823
name: KLHL7-related Bohring-Opitz-like syndrome
subset: gard_rare {source="GARD:22436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:603689"}
subset: orphanet_rare {source="Orphanet:603689"}
subset: rare
synonym: "KLHL7-related BOS-like syndrome" EXACT [Orphanet:603689]
xref: GARD:22436 {source="MONDO:GARD"}
xref: MEDGEN:1842955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:603689 {source="MONDO:equivalentTo"}
xref: UMLS:C5680210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842955"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15646 ! KLHL7

[Term]
id: MONDO:0035824
name: KLHL7-related cold-induced sweating-like syndrome
subset: gard_rare {source="GARD:22437", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:603694"}
subset: orphanet_rare {source="Orphanet:603694"}
subset: rare
synonym: "KLHL7-related Crisponi-like syndrome" EXACT [Orphanet:603694]
xref: GARD:22437 {source="MONDO:GARD"}
xref: MEDGEN:1842368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:603694 {source="MONDO:equivalentTo"}
xref: UMLS:C5680211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842368"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0035826
name: symptomatic form of X-linked centronuclear myopathy in female carriers
subset: gard_rare {source="GARD:22439", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:604680"}
subset: orphanet_rare {source="Orphanet:604680"}
subset: rare
synonym: "Symptomatic form of X-linked myotubular myopathy in female carriers" EXACT [Orphanet:604680]
synonym: "Symptomatic form of XLCNM in female carriers" EXACT [Orphanet:604680]
synonym: "Symptomatic form of XLMTM in female carriers" EXACT [Orphanet:604680]
xref: GARD:22439 {source="MONDO:GARD"}
xref: MEDGEN:1842761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:604680 {source="MONDO:equivalentTo"}
xref: UMLS:C5680221 {source="MONDO:equivalentTo", source="MEDGEN:1842761", source="MONDO:MEDGEN"}
is_a: MONDO:0010683 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! X-linked myotubular myopathy

[Term]
id: MONDO:0035838
name: idiopathic multicentric Castleman disease
subset: gard_rare {source="GARD:22309", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:570431"}
subset: rare
synonym: "HHV-8-negative multicentric Castleman disease" EXACT [Orphanet:570431]
synonym: "Human herpesvirus-8-negative multicentric Castleman disease" EXACT [Orphanet:570431]
xref: GARD:22309 {source="MONDO:GARD"}
xref: ICD10CM:D47.7 {source="Orphanet:570431"}
xref: MEDGEN:1680858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:570431 {source="MONDO:equivalentTo"}
xref: UMLS:C5197665 {source="MEDGEN:1680858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015564 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Castleman disease

[Term]
id: MONDO:0035862
name: obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
subset: ordo_group_of_disorders {source="Orphanet:611314"}
xref: GARD:22440 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:611314 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0000508

[Term]
id: MONDO:0035863
name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
subset: ordo_group_of_disorders {source="Orphanet:611327"}
xref: GARD:22441 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:611327 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0035875
name: ivermectin toxicity
xref: Orphanet:574637 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0035876
name: belinostat toxicity or dose selection
xref: Orphanet:574671 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning

[Term]
id: MONDO:0035879
name: granuloma faciale
subset: gard_rare {source="GARD:22442", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:615943"}
subset: orphanet_rare {source="Orphanet:615943"}
subset: rare
synonym: "Facial granuloma of Lever" EXACT [Orphanet:615943]
synonym: "Granuloma of Lever" EXACT [Orphanet:615943]
xref: GARD:22442 {source="MONDO:GARD"}
xref: ICD10CM:L92.2 {source="Orphanet:615943", source="MONDO:equivalentTo"}
xref: icd11.foundation:1663072571 {source="Orphanet:615943", source="MONDO:equivalentTo"}
xref: MEDGEN:536904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:615943 {source="MONDO:equivalentTo"}
xref: UMLS:C0239495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536904"}
is_a: MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! skin disorder

[Term]
id: MONDO:0035882
name: chronic intervillositis of unknown etiology
subset: gard_rare {source="GARD:22443", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:615970"}
subset: orphanet_rare {source="Orphanet:615970"}
subset: rare
synonym: "CIUE" EXACT [Orphanet:615970]
xref: GARD:22443 {source="MONDO:GARD"}
xref: MEDGEN:1842235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:615970 {source="MONDO:equivalentTo"}
xref: UMLS:C5680386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842235"}
is_a: MONDO:0024575 {source="PMID:33155353", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pregnancy disorder

[Term]
id: MONDO:0035892
name: Mills syndrome
def: "A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease." [Orphanet:94091]
subset: gard_rare {source="GARD:19250", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:94091"}
subset: orphanet_rare {source="Orphanet:94091"}
subset: rare
xref: GARD:19250 {source="MONDO:GARD"}
xref: MEDGEN:1682801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:94091 {source="MONDO:equivalentTo"}
xref: UMLS:C5191669 {source="MEDGEN:1682801", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020129 {source="Orphanet:94091"} ! acquired motor neuron disease

[Term]
id: MONDO:0035930
name: neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency
subset: gard_rare {source="GARD:22337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:583612"}
subset: rare
synonym: "3-phosphoserine phosphatase deficiency, prenatal form" EXACT [Orphanet:583612]
xref: GARD:22337 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:583612"}
xref: MEDGEN:1843313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:583612 {source="MONDO:equivalentTo"}
xref: UMLS:C5680338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843313"}
is_a: MONDO:0000179 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Neu-Laxova syndrome

[Term]
id: MONDO:0035940
name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
subset: gard_rare {source="GARD:22342", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:585909"}
subset: rare
synonym: "B-ALL with t(9;22)(q34.1;q11.2)" EXACT [Orphanet:585909]
synonym: "BCR-ABL1-like B-ALL" EXACT [Orphanet:585909]
synonym: "Philadelphia chromosome-like B-ALL" EXACT [Orphanet:585909]
xref: DOID:0080643 {source="MONDO:equivalentTo"}
xref: GARD:22342 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="Orphanet:585909"}
xref: icd11.foundation:381281608 {source="Orphanet:585909", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1842992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80331 {source="MONDO:equivalentTo"}
xref: Orphanet:585909 {source="MONDO:equivalentTo"}
xref: UMLS:C5680319 {source="MONDO:equivalentTo", source="MEDGEN:1842992", source="MONDO:MEDGEN"}
is_a: MONDO:0035605 {source="NCIT:C80331"} ! B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

[Term]
id: MONDO:0035941
name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
subset: gard_rare {source="GARD:22343", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:585918"}
subset: rare
synonym: "B lymphoblastic leukaemia lymphoma with t(v;11q23); MLL rearranged" EXACT OMO:0003005 []
synonym: "B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged" EXACT [Orphanet:585918]
synonym: "B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged" EXACT [Orphanet:585918]
xref: GARD:22343 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="Orphanet:585918"}
xref: NCIT:C80332 {source="MONDO:equivalentTo"}
xref: Orphanet:585918 {source="MONDO:equivalentTo"}
is_a: MONDO:0035605 {source="NCIT:C80332", source="Orphanet:585918"} ! B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

[Term]
id: MONDO:0035942
name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
subset: gard_rare {source="GARD:22344", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:585929"}
subset: rare
synonym: "B lymphoblastic leukaemia lymphoma with t(12;21)(p13;q22); TEL-AML1" EXACT OMO:0003005 []
synonym: "B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1" EXACT [Orphanet:585929]
synonym: "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1" EXACT [Orphanet:585929]
xref: GARD:22344 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="Orphanet:585929"}
xref: NCIT:C80334 {source="MONDO:equivalentTo"}
xref: Orphanet:585929 {source="MONDO:equivalentTo"}
is_a: MONDO:0035605 {source="NCIT:C80334", source="Orphanet:585929"} ! B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

[Term]
id: MONDO:0035943
name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy
subset: gard_rare {source="GARD:22345", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:585936"}
subset: rare
xref: DOID:0080646 {source="MONDO:equivalentTo"}
xref: GARD:22345 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="Orphanet:585936"}
xref: MEDGEN:397154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80335 {source="MONDO:equivalentTo"}
xref: Orphanet:585936 {source="MONDO:equivalentTo"}
xref: UMLS:C2698311 {source="MEDGEN:397154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0035605 {source="NCIT:C80335", source="Orphanet:585936"} ! B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

[Term]
id: MONDO:0035944
name: B-lymphoblastic leukemia/lymphoma with hypodiploidy
subset: gard_rare {source="GARD:22346", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:585942"}
subset: rare
synonym: "Hypodiploid ALL" EXACT [Orphanet:585942]
xref: DOID:0080647 {source="MONDO:equivalentTo"}
xref: GARD:22346 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="Orphanet:585942"}
xref: MEDGEN:437498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80338 {source="MONDO:equivalentTo"}
xref: Orphanet:585942 {source="MONDO:equivalentTo"}
xref: UMLS:C2698312 {source="MEDGEN:437498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0035605 {source="NCIT:C80338", source="Orphanet:585942"} ! B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

[Term]
id: MONDO:0035945
name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
subset: gard_rare {source="GARD:22347", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:585948"}
subset: rare
synonym: "B lymphoblastic leukaemia lymphoma with t(5;14)(q31;q32); IL3-IGH" EXACT OMO:0003005 []
synonym: "B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH" EXACT [Orphanet:585948]
xref: GARD:22347 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="Orphanet:585948"}
xref: MEDGEN:396325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80340 {source="MONDO:equivalentTo"}
xref: Orphanet:585948 {source="MONDO:equivalentTo"}
xref: UMLS:C2698316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396325"}
is_a: MONDO:0035605 {source="NCIT:C80340", source="Orphanet:585948"} ! B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

[Term]
id: MONDO:0036025
name: toxicity to dolutegravir
xref: Orphanet:596744 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="Orphanet:240839"} ! poisoning

[Term]
id: MONDO:0036042
name: KAT6B-related multiple congenital anomalies syndrome
comment: The obsoletion of this term has been reversed in the Mondo release of January 2024.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22399", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:597749"}
subset: rare
synonym: "KAT6B-related disorder" EXACT [Orphanet:597749]
xref: GARD:22399 {source="MONDO:GARD"}
xref: MEDGEN:1843234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:597749 {source="MONDO:equivalentTo"}
xref: UMLS:C5680266 {source="MONDO:equivalentTo", source="MEDGEN:1843234", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:597749"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6572" xsd:anyURI

[Term]
id: MONDO:0036045
name: euthyroid dysprealbuminemic hyperthyroxinemia
subset: gard_rare {source="GARD:22401", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597939"}
subset: orphanet_rare {source="Orphanet:597939"}
subset: rare
synonym: "Euthyroid dystransthyretinemic hyperthyroxinemia" EXACT [Orphanet:597939]
xref: GARD:22401 {source="MONDO:GARD"}
xref: MEDGEN:1842463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:597939 {source="MONDO:equivalentTo"}
xref: UMLS:C5680265 {source="MEDGEN:1842463", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005333 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! hyperthyroxinemia

[Term]
id: MONDO:0036189
name: oculogastrointestinal-neurodevelopmental syndrome
subset: gard_rare {source="GARD:18024", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:611201"}
subset: orphanet_rare {source="Orphanet:611201"}
subset: rare
synonym: "OGIN Syndrome" EXACT [Orphanet:611201]
xref: GARD:18024 {source="MONDO:GARD"}
xref: MEDGEN:1779113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619318 {source="MONDO:equivalentTo"}
xref: Orphanet:611201 {source="MONDO:equivalentTo"}
xref: UMLS:C5543355 {source="MEDGEN:1779113", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:619318"} ! hereditary disease

[Term]
id: MONDO:0036192
name: obsolete EN1-related dorsoventral syndrome
subset: ordo_disorder {source="Orphanet:611223"}
synonym: "ENDOVE syndrome" EXACT [Orphanet:611223]
synonym: "ENDOVES" EXACT [Orphanet:611223]
xref: GARD:18027 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:611223 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0036193
name: parkinsonism with polyneuropathy
subset: gard_rare {source="GARD:18028", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:611237"}
subset: orphanet_rare {source="Orphanet:611237"}
subset: rare
xref: GARD:18028 {source="MONDO:GARD"}
xref: MEDGEN:1783451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619279 {source="Orphanet:611237", source="MONDO:equivalentTo"}
xref: Orphanet:611237 {source="MONDO:equivalentTo"}
xref: UMLS:C5543299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783451"}
is_a: MONDO:0003847 {source="OMIM:619279"} ! hereditary disease
is_a: MONDO:0021095 {source="OMIM:619279"} ! parkinsonian disorder

[Term]
id: MONDO:0036212
name: spastic paraparesis-cataracts-speech delay syndrome
subset: gard_rare {source="GARD:18033", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:615938"}
subset: orphanet_rare {source="Orphanet:615938"}
subset: rare
synonym: "Fatty acyl-CoA reductase 1 superactivity" EXACT [Orphanet:615938]
xref: GARD:18033 {source="MONDO:GARD"}
xref: OMIM:619338 {source="MONDO:equivalentTo"}
xref: Orphanet:615938 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:619338"} ! hereditary disease

[Term]
id: MONDO:0036217
name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
subset: gard_rare {source="GARD:18036", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:615983"}
subset: rare
xref: GARD:18036 {source="MONDO:GARD"}
xref: MEDGEN:1842868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:615983 {source="MONDO:equivalentTo"}
xref: UMLS:C5681819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842868"}
is_a: MONDO:0032931 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

[Term]
id: MONDO:0036218
name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
subset: gard_rare {source="GARD:18037", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:615986"}
subset: rare
synonym: "Lethal 1p36.33 deletion syndrome" EXACT [Orphanet:615986]
xref: GARD:18037 {source="MONDO:GARD"}
xref: MEDGEN:1843311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:615986 {source="MONDO:equivalentTo"}
xref: UMLS:C5680385 {source="MONDO:equivalentTo", source="MEDGEN:1843311", source="MONDO:MEDGEN"}
is_a: MONDO:0032931 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

[Term]
id: MONDO:0036482
name: retinitis pigmentosa 81
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 81" EXACT [OMIM:617871]
synonym: "RP81" RELATED ABBREVIATION [OMIM:617871]
xref: DOID:0080292 {source="MONDO:equivalentTo"}
xref: MEDGEN:1637738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617871 {source="MONDO:equivalentTo", source="DOID:0080292"}
xref: UMLS:C4693443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637738"}
is_a: MONDO:0019200 {source="DOID:0080292", source="OMIM:617871"} ! retinitis pigmentosa

[Term]
id: MONDO:0036483
name: short-rib thoracic dysplasia 18 with polydactyly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short-rib thoracic dysplasia 18 with polydactyly" EXACT [OMIM:617866]
synonym: "SRTD18" RELATED ABBREVIATION [OMIM:617866]
xref: DOID:0080293 {source="MONDO:equivalentTo"}
xref: MEDGEN:1632904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617866 {source="MONDO:equivalentTo", source="DOID:0080293"}
xref: UMLS:C4693420 {source="MEDGEN:1632904", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018770 {source="DOID:0080293", source="OMIM:617866"} ! Jeune syndrome

[Term]
id: MONDO:0036484
name: Charcot-Marie-Tooth disease, dominant intermediate G
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-Tooth disease dominant intermediate G" RELATED [DOID:0080294]
synonym: "Charcot-Marie-Tooth disease, dominant intermediate G" EXACT [OMIM:617882]
synonym: "CMTDIG" RELATED ABBREVIATION [OMIM:617882]
xref: DOID:0080294 {source="MONDO:equivalentTo"}
xref: MEDGEN:1642893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617882 {source="DOID:0080294", source="MONDO:equivalentTo"}
xref: UMLS:C4693509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642893"}
is_a: MONDO:0015626 {source="DOID:0080294/inferred", source="OMIM:617882"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018778 {source="DOID:0080294"} ! intermediate Charcot-Marie-Tooth disease

[Term]
id: MONDO:0036491
name: obsolete rare childhood malignant neoplasm
def: "OBSOLETE. An infrequent malignant neoplasm that occurs during childhood." [NCIT:C114451]
synonym: "rare childhood cancer" EXACT []
synonym: "rare childhood malignant neoplasm" EXACT [MONDO:patterns/rare, NCIT:C114451]
synonym: "rare malignant childhood neoplasm" EXACT [NCIT:C114451]
synonym: "Rare malignant neoplasm" EXACT [NCIT:C114451]
xref: NCIT:C114451 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006517

[Term]
id: MONDO:0036501
name: refractory malignant neoplasm
def: "A malignant neoplasm that does not respond to treatment." [NCIT:C120186]
synonym: "clinical resistance" RELATED [NCIT:C120186]
synonym: "refractory cancer" EXACT [NCIT:C120186]
synonym: "refractory malignant neoplasm" EXACT [NCIT:C120186]
synonym: "resistant cancer" EXACT [NCIT:C120186]
xref: MEDGEN:146772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120186 {source="MONDO:equivalentTo"}
xref: UMLS:C0677936 {source="MEDGEN:146772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="MONDO:Redundant", source="NCIT:C120186"} ! cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: has_characteristic HP:0031375 ! Refractory

[Term]
id: MONDO:0036511
name: childhood malignant kidney neoplasm
def: "A malignant neoplasm that affects the kidney and occurs in childhood." [NCIT:C123907]
subset: otar {source="MONDO:OTAR"}
synonym: "childhood kidney cancer" EXACT [MONDO:design_pattern]
synonym: "childhood malignant kidney neoplasm" EXACT [NCIT:C123907]
synonym: "childhood malignant kidney tumor" EXACT [NCIT:C123907]
synonym: "childhood malignant kidney tumour" EXACT OMO:0003005 []
synonym: "childhood malignant renal neoplasm" EXACT [NCIT:C123907]
synonym: "childhood malignant renal tumor" EXACT [NCIT:C123907]
synonym: "childhood malignant renal tumour" EXACT OMO:0003005 []
synonym: "kidney cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric kidney cancer" EXACT OMO:0003005 []
synonym: "pediatric kidney cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
xref: MEDGEN:904186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123907 {source="MONDO:equivalentTo"}
xref: UMLS:C4086162 {source="MEDGEN:904186", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002367 {source="MONDO:Redundant", source="NCIT:C123907"} ! kidney cancer
is_a: MONDO:0002730 {source="MONDO:Redundant", source="NCIT:C123907"} ! childhood kidney neoplasm
is_a: MONDO:0006517 {source="MONDO:Redundant", source="NCIT:C123907"} ! childhood malignant neoplasm
intersection_of: MONDO:0002367 ! kidney cancer
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0036591
name: adrenal cortex neoplasm
def: "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)" [NCIT:C2858]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adrenal cortex neoplasm" EXACT [NCIT:C2858]
synonym: "adrenal cortex tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2858]
synonym: "adrenal cortex tumour" EXACT OMO:0003005 []
synonym: "adrenocortical neoplasm" EXACT [NCIT:C2858]
synonym: "adrenocortical tumor" EXACT [NCIT:C2858]
synonym: "adrenocortical tumour" EXACT OMO:0003005 []
synonym: "neoplasm of adrenal cortex" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of adrenal cortex" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of adrenal cortex" EXACT OMO:0003005 []
xref: MEDGEN:1350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000306 {source="MONDO:equivalentTo"}
xref: NCIT:C2858 {source="MONDO:equivalentTo"}
xref: UMLS:C0001618 {source="MEDGEN:1350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex

[Term]
id: MONDO:0036595
name: ovarian Sertoli-Leydig cell tumor
def: "A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8." [NCIT:C2880]
synonym: "androblastoma" EXACT [NCIT:C2880]
synonym: "arrhenoblastoma" EXACT [NCIT:C2880]
synonym: "ovarian Sertoli-Leydig cell neoplasm" EXACT [NCIT:C2880]
synonym: "ovarian Sertoli-Leydig cell tumor" EXACT [NCIT:C2880]
synonym: "Sertoli-Leydig cell tumor of ovary" EXACT [NCIT:C2880]
synonym: "Sertoli-Leydig cell tumor of the ovary" EXACT [NCIT:C2880]
synonym: "Sertoli-Leydig cell tumour of ovary" EXACT OMO:0003005 []
synonym: "Sertoli-Leydig cell tumour of the ovary" EXACT OMO:0003005 []
synonym: "Sertoli-Leydig neoplasm of ovary" EXACT [NCIT:C2880]
synonym: "Sertoli-Leydig neoplasm of the ovary" EXACT [NCIT:C2880]
xref: MEDGEN:2038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C2880 {source="MONDO:equivalentTo"}
xref: SCTID:254866007 {source="MONDO:equivalentTo"}
xref: UMLS:C0003810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2038"}
is_a: MONDO:0020807 {source="NCIT:C2880"} ! ovarian sertoli-stromal cell tumor
relationship: disease_arises_from_structure CL:0000178 ! Leydig cell
relationship: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0036688
name: rhabdomyoma
def: "A benign mesenchymal tumor arising from skeletal or cardiac muscle." [NCIT:C3358]
subset: otar {source="MONDO:OTAR"}
synonym: "rhabdomyoma" EXACT [NCIT:C3358]
synonym: "rhabdomyoma, benign" EXACT [NCIT:C3358]
synonym: "Rhabdomyomatous neoplasm" EXACT [NCIT:C3358]
xref: ICDO:8900/0 {source="NCIT:C3358"}
xref: MEDGEN:48445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012207 {source="MONDO:equivalentTo"}
xref: NCIT:C3358 {source="MONDO:equivalentTo"}
xref: SCTID:402877008 {source="MONDO:equivalentTo"}
xref: UMLS:C0035411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48445"}
is_a: MONDO:0003061 {source="MESH:D012207", source="NCIT:C3358"} ! benign muscle neoplasm

[Term]
id: MONDO:0036696
name: spleen neoplasm
def: "A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma." [NCIT:C3383]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neoplasm of spleen" EXACT [MONDO:patterns/neoplasm]
synonym: "spleen tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "spleen tumour" EXACT OMO:0003005 []
synonym: "splenic neoplasm" EXACT [NCIT:C3383]
synonym: "tumor of spleen" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of spleen" EXACT OMO:0003005 []
xref: MEDGEN:21292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3383 {source="MONDO:equivalentTo"}
xref: UMLS:C0037999 {source="MEDGEN:21292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002334 {source="MONDO:Redundant", source="NCIT:C3383"} ! hematopoietic and lymphoid system neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0002106 ! spleen

[Term]
id: MONDO:0036779
name: axillary neoplasm
def: "A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes." [NCIT:C35749]
synonym: "axilla neoplasm" EXACT []
synonym: "axilla tumor" EXACT [MONDO:patterns/neoplasm]
synonym: "axilla tumour" EXACT OMO:0003005 []
synonym: "axillary neoplasm" EXACT [NCIT:C35749]
synonym: "neoplasm of axilla" EXACT [MONDO:patterns/neoplasm]
synonym: "tumor of axilla" EXACT [MONDO:patterns/neoplasm]
synonym: "tumour of axilla" EXACT OMO:0003005 []
xref: MEDGEN:266214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35749 {source="MONDO:equivalentTo"}
xref: SCTID:126639006 {source="MONDO:equivalentTo"}
xref: UMLS:C1290308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266214"}
is_a: MONDO:0021350 {source="NCIT:C35749"} ! neoplasm of thorax
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0009472 ! axilla

[Term]
id: MONDO:0036781
name: benign axillary neoplasm
def: "A non-metastasizing neoplasm that arises from the structures of the axilla." [NCIT:C35750]
synonym: "axillary neoplasm, benign" EXACT [MONDO:patterns/benign]
synonym: "benign axillary neoplasm" EXACT [NCIT:C35750]
xref: MEDGEN:146338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35750 {source="MONDO:equivalentTo"}
xref: UMLS:C0684828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146338"}
is_a: MONDO:0000634 {source="MONDO:Redundant", source="NCIT:C35750"} ! thoracic benign neoplasm
is_a: MONDO:0036779 {source="MONDO:Redundant", source="NCIT:C35750"} ! axillary neoplasm
intersection_of: MONDO:0036779 ! axillary neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0036870
name: lymphatic vessel neoplasm
def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723]
subset: otar {source="MONDO:OTAR"}
synonym: "lymph vessel neoplasm" EXACT [NCIT:C3723]
synonym: "lymph vessel tumor" EXACT [NCIT:C3723]
synonym: "lymph vessel tumour" EXACT OMO:0003005 []
synonym: "lymphatic vessel neoplasm" EXACT [NCIT:C3723]
synonym: "lymphatic vessel tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3723]
synonym: "lymphatic vessel tumour" EXACT OMO:0003005 []
synonym: "neoplasm of lymph vessel" EXACT [NCIT:C3723]
synonym: "neoplasm of lymphatic vessel" EXACT [MONDO:patterns/neoplasm, NCIT:C3723]
synonym: "neoplasm of the lymph vessel" EXACT [NCIT:C3723]
synonym: "neoplasm of the lymphatic vessel" EXACT [NCIT:C3723]
synonym: "tumor of lymph vessel" EXACT [NCIT:C3723]
synonym: "tumor of lymphatic vessel" EXACT [MONDO:patterns/neoplasm, NCIT:C3723]
synonym: "tumor of the lymph vessel" EXACT [NCIT:C3723]
synonym: "tumor of the lymphatic vessel" EXACT [NCIT:C3723]
synonym: "tumour of lymph vessel" EXACT OMO:0003005 []
synonym: "tumour of lymphatic vessel" EXACT OMO:0003005 []
synonym: "tumour of the lymph vessel" EXACT OMO:0003005 []
synonym: "tumour of the lymphatic vessel" EXACT OMO:0003005 []
xref: MEDGEN:64616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3723 {source="MONDO:equivalentTo"}
xref: UMLS:C0206619 {source="MONDO:equivalentTo", source="MEDGEN:64616", source="MONDO:MEDGEN"}
is_a: MONDO:0024296 {source="MONDO:Redundant", source="NCIT:C3723"} ! vascular neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0001473 ! lymphatic vessel

[Term]
id: MONDO:0036915
name: benign ovarian mucinous tumor
def: "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." [NCIT:C40039]
synonym: "benign ovarian mucinous neoplasm" EXACT [NCIT:C40039]
synonym: "benign ovarian mucinous tumor" EXACT [NCIT:C40039]
synonym: "ovarian mucinous neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: MEDGEN:267038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40039 {source="MONDO:equivalentTo"}
xref: UMLS:C1511100 {source="MEDGEN:267038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003756 {source="MONDO:Redundant", source="NCIT:C40039"} ! ovarian mucinous neoplasm
intersection_of: MONDO:0003756 ! ovarian mucinous neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0036918
name: punctate acrokeratoderma freckle-like pigmentation
subset: gard_rare {source="GARD:4603", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99710"}
subset: orphanet_rare {source="Orphanet:99710"}
subset: rare
xref: GARD:4603 {source="MONDO:GARD"}
xref: MEDGEN:1814481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99710 {source="MONDO:equivalentTo"}
xref: UMLS:C5681635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814481"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0019268 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0036976
name: benign epithelial neoplasm
def: "A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites." [NCIT:C4092]
subset: otar {source="MONDO:OTAR"}
synonym: "benign epithelial neoplasm" EXACT [NCIT:C4092]
synonym: "benign epithelial tumor" EXACT [NCIT:C4092]
synonym: "benign epithelial tumour" EXACT OMO:0003005 []
synonym: "benign epithelioma" EXACT [NCIT:C4092]
synonym: "benign neoplasm of epithelium" EXACT [NCIT:C4092]
synonym: "benign neoplasm of the epithelium" EXACT [NCIT:C4092]
synonym: "benign tumor of epithelium" EXACT [NCIT:C4092]
synonym: "benign tumor of the epithelium" EXACT [NCIT:C4092]
synonym: "benign tumour of epithelium" EXACT OMO:0003005 []
synonym: "benign tumour of the epithelium" EXACT OMO:0003005 []
synonym: "epithelial neoplasm, benign" EXACT [MONDO:patterns/benign]
synonym: "epithelioma, benign" EXACT [NCIT:C4092]
xref: ICDO:8010/0 {source="NCIT:C4092"}
xref: ICDO:8011/0 {source="NCIT:C4092"}
xref: MEDGEN:90747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4092 {source="MONDO:equivalentTo"}
xref: UMLS:C0334232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90747"}
is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C4092"} ! epithelial neoplasm
intersection_of: MONDO:0005626 ! epithelial neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0036990
name: benign Leydig cell tumor
def: "A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion." [NCIT:C4212]
synonym: "adenoma, interstitial" EXACT [NCIT:C4212]
synonym: "benign interstitial cell neoplasm" EXACT [NCIT:C4212]
synonym: "benign interstitial cell tumor" EXACT [NCIT:C4212]
synonym: "benign interstitial cell tumour" EXACT OMO:0003005 []
synonym: "benign Leydig cell neoplasm" EXACT [NCIT:C4212]
synonym: "benign Leydig cell tumor" EXACT [NCIT:C4212]
synonym: "Leydig cell tumor, benign" EXACT [MONDO:patterns/benign, NCIT:C4212]
xref: ICDO:8650/0 {source="NCIT:C4212"}
xref: MEDGEN:83142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4212 {source="MONDO:equivalentTo"}
xref: UMLS:C0334409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83142"}
is_a: MONDO:0006266 {source="MONDO:Redundant", source="NCIT:C4212"} ! Leydig cell tumor
intersection_of: MONDO:0006266 ! Leydig cell tumor
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0037002
name: benign phyllodes tumor
def: "A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features." [NCIT:C4274]
synonym: "benign cystosarcoma phyllodes" EXACT [NCIT:C4274]
synonym: "benign phyllodes neoplasm" EXACT [NCIT:C4274]
synonym: "benign phyllodes tumor" EXACT [NCIT:C4274]
synonym: "phyllodes tumor, benign" EXACT [MONDO:patterns/benign]
xref: ICDO:9020/0 {source="NCIT:C4274"}
xref: MEDGEN:87254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4274 {source="MONDO:equivalentTo"}
xref: UMLS:C0334501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87254"}
is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C4274"} ! phyllodes tumor
intersection_of: MONDO:0005078 ! phyllodes tumor
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0037003
name: malignant phyllodes tumor
def: "A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases." [NCIT:C4275]
subset: otar {source="MONDO:OTAR"}
synonym: "malignant cystosarcoma phyllodes" EXACT [NCIT:C4275]
synonym: "malignant phyllodes neoplasm" EXACT [NCIT:C4275]
synonym: "malignant phyllodes tumor" EXACT [NCIT:C4275]
synonym: "phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: ICDO:9020/3 {source="NCIT:C4275"}
xref: MEDGEN:109372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4275 {source="MONDO:equivalentTo"}
xref: UMLS:C0600066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:109372"}
is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C4275"} ! phyllodes tumor
is_a: MONDO:0005853 {source="MONDO:Redundant", source="NCIT:C4275"} ! malignant mixed neoplasm
intersection_of: MONDO:0005078 ! phyllodes tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0037105
name: lung germ cell tumor
def: "A germ cell tumor that arises from the lung." [NCIT:C45636]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lung germ cell neoplasm" EXACT [NCIT:C45636]
synonym: "lung germ cell tumor" EXACT [NCIT:C45636]
xref: MEDGEN:310947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45636 {source="MONDO:equivalentTo"}
xref: UMLS:C1708771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:310947"}
is_a: MONDO:0018201 {source="NCIT:C45636"} ! extragonadal germ cell tumor
is_a: MONDO:0021117 {source="MONDO:Redundant", source="NCIT:C45636"} ! lung neoplasm
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0002048 ! lung

[Term]
id: MONDO:0037149
name: HSD10 disease, atypical type
subset: gard_rare {source="GARD:16749", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:85295"}
subset: rare
synonym: "HSD10 deficiency, atypical type" EXACT [Orphanet:85295]
synonym: "Syndromic X-linked intellectual disability type 10" EXACT [Orphanet:85295]
synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" BROAD [Orphanet:85295]
synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" BROAD OMO:0003005 []
xref: GARD:16749 {source="MONDO:GARD"}
xref: ICD10CM:G25.5 {source="Orphanet:85295"}
xref: MEDGEN:1843277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:85295 {source="MONDO:equivalentTo"}
xref: UMLS:C5680206 {source="MEDGEN:1843277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010327 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! HSD10 mitochondrial disease

[Term]
id: MONDO:0037250
name: childhood testicular neoplasm
def: "A neoplasm that arises from the testis during childhood." [NCIT:C5053]
synonym: "childhood neoplasm of testis" EXACT [NCIT:C5053]
synonym: "childhood neoplasm of the testis" EXACT [NCIT:C5053]
synonym: "childhood testicular neoplasm" EXACT [NCIT:C5053]
synonym: "neoplasm of testis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood]
synonym: "paediatric neoplasm of testis" EXACT OMO:0003005 []
synonym: "paediatric neoplasm of the testis" EXACT OMO:0003005 []
synonym: "paediatric testicular neoplasm" EXACT OMO:0003005 []
synonym: "pediatric neoplasm of testis" EXACT [MONDO:patterns/childhood, NCIT:C5053]
synonym: "pediatric neoplasm of the testis" EXACT [NCIT:C5053]
synonym: "pediatric testicular neoplasm" EXACT [NCIT:C5053]
synonym: "testicular tumor, childhood" EXACT [NCIT:C5053]
xref: MEDGEN:272472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5053 {source="MONDO:equivalentTo"}
xref: UMLS:C1333010 {source="MEDGEN:272472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021079 {source="MONDO:Redundant", source="NCIT:C5053"} ! childhood neoplasm
is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C5053"} ! neoplasm of testis
intersection_of: MONDO:0021348 ! neoplasm of testis
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0037251
name: congestive splenomegaly
def: "A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia." [PMID:35800794]
subset: gard_rare {source="GARD:5888", source="MONDO:GARD"}
subset: rare
synonym: "Banti syndrome" EXACT [MONDO:0021969]
synonym: "Banti's disease" EXACT [GARD:0005888, MESH:C537903]
synonym: "Banti's spleen" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Banti's syndrome" EXACT [GARD:0005888]
synonym: "fibrocongestive splenomegaly" RELATED [https://orcid.org/0000-0001-5208-3432]
synonym: "idiopathic congestive splenomegaly" RELATED [GARD:0005888, MESH:C537903]
synonym: "idiopathic portal hypertension" RELATED [GARD:0005888, MESH:C537903]
xref: GARD:5888 {source="MONDO:GARD"}
xref: MEDGEN:56339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537903 {source="MONDO:equivalentTo"}
xref: SCTID:19058002 {source="MONDO:equivalentTo"}
xref: UMLS:C0154307 {source="MEDGEN:56339", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002332 {source="https://orcid.org/0000-0001-5208-3432"} ! splenic disorder
relationship: disease_has_feature MONDO:0001529 {source="MESH:C537903"} ! pancytopenia
relationship: disease_has_feature MONDO:0005080 {source="MESH:C537903"} ! portal hypertension
relationship: disease_has_feature MONDO:0005155 {source="MESH:C537903"} ! cirrhosis of liver
relationship: disease_has_major_feature HP:0001744 {source="https://orcid.org/0000-0001-5208-3432"} ! Splenomegaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7147" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome" xsd:anyURI {source="GARD:0005888"}

[Term]
id: MONDO:0037252
name: thecoma
def: "An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported." [NCIT:C3405]
synonym: "thecoma" EXACT [NCIT:C3405]
xref: ICDO:8600/0 {source="NCIT:C3405"}
xref: MEDGEN:21505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013798 {source="MONDO:equivalentTo"}
xref: NCIT:C3405 {source="MONDO:equivalentTo"}
xref: UMLS:C0039747 {source="MEDGEN:21505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006055 {source="NCIT:C3405/inferred"} ! sex cord-stromal tumor

[Term]
id: MONDO:0037253
name: ovarian thecoma
def: "A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign." [NCIT:C66989]
synonym: "ovarian theca cell neoplasm" EXACT [NCIT:C66989]
synonym: "ovarian theca cell tumor" EXACT [NCIT:C66989]
synonym: "ovarian theca cell tumour" EXACT OMO:0003005 []
synonym: "ovarian thecoma" EXACT [NCIT:C66989]
synonym: "ovary thecoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "theca cell neoplasm of ovary" EXACT [NCIT:C66989]
synonym: "theca cell neoplasm of the ovary" EXACT [NCIT:C66989]
synonym: "theca cell tumor of ovary" EXACT [NCIT:C66989]
synonym: "theca cell tumor of the ovary" EXACT [NCIT:C66989]
synonym: "theca cell tumour of ovary" EXACT OMO:0003005 []
synonym: "theca cell tumour of the ovary" EXACT OMO:0003005 []
synonym: "thecoma of ovary" EXACT [NCIT:C66989]
synonym: "thecoma of the ovary" EXACT [NCIT:C66989]
xref: MEDGEN:364155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C66989 {source="MONDO:equivalentTo"}
xref: SCTID:254864005 {source="MONDO:equivalentTo"}
xref: UMLS:C1882229 {source="MEDGEN:364155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0037252 {source="MONDO:Redundant", source="NCIT:C66989"} ! thecoma
intersection_of: MONDO:0037252 ! thecoma
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0037254
name: transitional cell neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "transitional cell neoplasm" EXACT [NCIT:C6783]
synonym: "transitional cell tumor" EXACT [NCIT:C6783]
synonym: "transitional cell tumour" EXACT OMO:0003005 []
xref: MEDGEN:90754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6783 {source="MONDO:equivalentTo"}
xref: UMLS:C0334265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90754"}
is_a: MONDO:0005626 {source="NCIT:C6783"} ! epithelial neoplasm

[Term]
id: MONDO:0037255
name: ovarian serous tumor
def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage." [NCIT:C8431]
subset: otar {source="MONDO:OTAR"}
synonym: "ovarian serous neoplasm" EXACT [NCIT:C8431]
synonym: "ovarian serous tumor" EXACT [NCIT:C8431]
synonym: "serous neoplasm of ovary" EXACT [NCIT:C8431]
synonym: "serous neoplasm of the ovary" EXACT [NCIT:C8431]
synonym: "serous tumor of ovary" EXACT [NCIT:C8431]
synonym: "serous tumor of the ovary" EXACT [NCIT:C8431]
synonym: "serous tumour of ovary" EXACT OMO:0003005 []
synonym: "serous tumour of the ovary" EXACT OMO:0003005 []
xref: MEDGEN:141653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8431 {source="MONDO:equivalentTo"}
xref: UMLS:C0476122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141653"}
is_a: MONDO:0002229 {source="MONDO:Redundant", source="NCIT:C8431"} ! ovarian epithelial tumor
is_a: MONDO:0037256 {source="MONDO:Redundant", source="NCIT:C8431"} ! serous neoplasm
intersection_of: MONDO:0037256 ! serous neoplasm
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0037256
name: serous neoplasm
subset: otar {source="MONDO:OTAR"}
synonym: "serous neoplasm" EXACT [NCIT:C7074]
xref: MEDGEN:233442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7074 {source="MONDO:equivalentTo"}
xref: UMLS:C1335951 {source="MEDGEN:233442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024276 {source="NCIT:C7074"} ! glandular cell neoplasm

[Term]
id: MONDO:0037398
name: pneumonia caused by pseudomonas aeruginosa infection
def: "A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen." [Orphanet:90066]
subset: gard_rare {source="GARD:13613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90066"}
subset: orphanet_rare {source="Orphanet:90066"}
subset: rare
xref: GARD:13613 {source="MONDO:GARD"}
xref: ICD10CM:J15.1 {source="Orphanet:90066"}
xref: icd11.foundation:801706385 {source="Orphanet:90066", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:852026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:90066 {source="MONDO:equivalentTo"}
xref: UMLS:C0920182 {source="MEDGEN:852026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005249 {source="https://orcid.org/0000-0001-5208-3432"} ! pneumonia
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:287 ! Pseudomonas aeruginosa

[Term]
id: MONDO:0037716
name: obsolete rare genetic deafness
subset: ordo_group_of_disorders {source="Orphanet:96210"}
xref: GARD:19346 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:96210 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0037735
name: sebaceous gland cancer
def: "A cancer that involves the sebaceous gland." [MONDO:patterns/location]
synonym: "cancer of sebaceous gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of sebaceous gland" EXACT [MONDO:patterns/cancer, NCIT:C8409]
synonym: "malignant neoplasm of the sebaceous gland" EXACT [NCIT:C8409]
synonym: "malignant sebaceous gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C8409]
synonym: "malignant sebaceous gland tumor" EXACT [NCIT:C8409]
synonym: "malignant sebaceous gland tumour" EXACT OMO:0003005 []
synonym: "malignant sebaceous neoplasm" EXACT [NCIT:C8409]
synonym: "malignant sebaceous tumor" EXACT [NCIT:C8409]
synonym: "malignant sebaceous tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of sebaceous gland" EXACT [NCIT:C8409]
synonym: "malignant tumor of the sebaceous gland" EXACT [NCIT:C8409]
synonym: "malignant tumour of sebaceous gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the sebaceous gland" EXACT OMO:0003005 []
xref: MEDGEN:235134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8409 {source="MONDO:equivalentTo"}
xref: UMLS:C1382026 {source="MEDGEN:235134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006963 {source="MONDO:Redundant", source="NCIT:C8409"} ! sebaceous gland neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland

[Term]
id: MONDO:0037736
name: infratentorial neoplasm
def: "A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli." [NCIT:C3139]
subset: otar {source="MONDO:OTAR"}
synonym: "brain neoplasms, infratentorial" EXACT [NCIT:C3139]
synonym: "infratentorial neoplasm" EXACT [NCIT:C3139]
synonym: "infratentorial neoplasms" EXACT [NCIT:C3139]
synonym: "infratentorial tumor" EXACT [NCIT:C3139]
synonym: "infratentorial tumors" EXACT [NCIT:C3139]
synonym: "infratentorial tumour" EXACT OMO:0003005 []
synonym: "infratentorial tumours" EXACT OMO:0003005 []
synonym: "neoplasms, infratentorial" EXACT [NCIT:C3139]
xref: MEDGEN:5803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3139 {source="MONDO:equivalentTo"}
xref: UMLS:C0021432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5803"}
is_a: MONDO:0021211 {source="NCIT:C3139"} ! brain neoplasm

[Term]
id: MONDO:0037737
name: peritoneal solitary fibrous tumor
def: "A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels." [NCIT:C126357]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peritoneal solitary fibrous tumor" EXACT [NCIT:C126357]
xref: MEDGEN:925935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C126357 {source="MONDO:equivalentTo"}
xref: UMLS:C4288403 {source="MEDGEN:925935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006901 {source="MONDO:Redundant", source="NCIT:C126357"} ! peritoneal neoplasm
is_a: MONDO:0016238 {source="MONDO:Redundant", source="NCIT:C126357"} ! solitary fibrous tumor
intersection_of: MONDO:0016238 ! solitary fibrous tumor
intersection_of: disease_has_location UBERON:0002358 ! peritoneum

[Term]
id: MONDO:0037738
name: cauda equina cancer
def: "A cancer that involves the cauda equina." [MONDO:patterns/location]
synonym: "cancer of cauda equina" EXACT [MONDO:patterns/cancer]
synonym: "malignant cauda equina neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of cauda equina" EXACT [MONDO:patterns/cancer]
xref: MEDGEN:578608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363477002 {source="MONDO:equivalentTo"}
xref: UMLS:C0349017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:578608"}
is_a: MONDO:0003164 {source="MONDO:Redundant"} ! cauda equina neoplasm
is_a: MONDO:0021089 {source="MONDO:Redundant"} ! peripheral nervous system cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0012337 ! cauda equina

[Term]
id: MONDO:0037739
name: benign neoplasm of cauda equina
def: "A benign neoplasm that involves the cauda equina." [MONDO:patterns/location]
synonym: "benign neoplasm of cauda equina" EXACT []
xref: MEDGEN:673271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:92047003 {source="MONDO:equivalentTo"}
xref: UMLS:C0686404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:673271"}
is_a: MONDO:0003164 {source="MONDO:Redundant"} ! cauda equina neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0012337 ! cauda equina

[Term]
id: MONDO:0037740
name: malignant central nervous system mesenchymal, non-meningothelial neoplasm
def: "A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system." [NCIT:C6758]
synonym: "central nervous system mesenchymal non-meningothelial tumor, malignant" EXACT [MONDO:patterns/malignant]
synonym: "malignant central nervous system mesenchymal non-meningothelial tumor" EXACT []
synonym: "malignant central nervous system mesenchymal non-meningothelial tumour" EXACT OMO:0003005 []
synonym: "malignant central nervous system mesenchymal, non-meningothelial neoplasm" EXACT [NCIT:C6758]
synonym: "malignant central nervous system mesenchymal, non-meningothelial tumor" EXACT [NCIT:C6758]
synonym: "malignant central nervous system mesenchymal, non-meningothelial tumour" EXACT OMO:0003005 []
synonym: "malignant central nervous system soft tissue neoplasm" EXACT [NCIT:C6758]
synonym: "malignant central nervous system soft tissue tumor" EXACT [NCIT:C6758]
synonym: "malignant central nervous system soft tissue tumour" EXACT OMO:0003005 []
synonym: "malignant CNS soft tissue neoplasm" EXACT [NCIT:C6758]
synonym: "malignant CNS soft tissue tumor" EXACT [NCIT:C6758]
synonym: "malignant CNS soft tissue tumour" EXACT OMO:0003005 []
synonym: "malignant soft tissue neoplasm of central nervous system" EXACT [NCIT:C6758]
synonym: "malignant soft tissue neoplasm of CNS" EXACT [NCIT:C6758]
synonym: "malignant soft tissue neoplasm of the central nervous system" EXACT [NCIT:C6758]
synonym: "malignant soft tissue neoplasm of the CNS" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumor of central nervous system" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumor of CNS" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumor of the central nervous system" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumor of the CNS" EXACT [NCIT:C6758]
synonym: "malignant soft tissue tumour of central nervous system" EXACT OMO:0003005 []
synonym: "malignant soft tissue tumour of CNS" EXACT OMO:0003005 []
synonym: "malignant soft tissue tumour of the central nervous system" EXACT OMO:0003005 []
synonym: "malignant soft tissue tumour of the CNS" EXACT OMO:0003005 []
synonym: "soft tissue cancer of central nervous system" EXACT [NCIT:C6758]
synonym: "soft tissue cancer of the central nervous system" EXACT [NCIT:C6758]
xref: MEDGEN:233147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6758 {source="MONDO:equivalentTo"}
xref: UMLS:C1334571 {source="MEDGEN:233147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002714 {source="NCIT:C6758"} ! central nervous system cancer
is_a: MONDO:0003244 {source="MONDO:Redundant", source="NCIT:C6758"} ! central nervous system mesenchymal non-meningothelial tumor
is_a: MONDO:0024637 {source="NCIT:C6758"} ! malignant soft tissue neoplasm
intersection_of: MONDO:0003244 ! central nervous system mesenchymal non-meningothelial tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0037742
name: endometrioid stromal and related neoplasms
def: "A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites." [NCIT:C8384]
synonym: "endometrioid stromal and related neoplasms" EXACT [NCIT:C8384]
synonym: "endometrioid stromal and related tumors" EXACT [NCIT:C8384]
synonym: "endometrioid stromal and related tumours" EXACT OMO:0003005 []
xref: MEDGEN:925400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8384 {source="MONDO:equivalentTo"}
xref: UMLS:C4287868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:925400"}
is_a: MONDO:0021148 {source="NCIT:C8384"} ! female reproductive system neoplasm

[Term]
id: MONDO:0037743
name: mediastinal soft tissue cancer
def: "A malignant neoplasm that arises from the soft tissues of the mediastinum." [NCIT:C6642]
synonym: "malignant mediastinal mesenchymal tumor" EXACT []
synonym: "malignant mediastinal mesenchymal tumour" EXACT OMO:0003005 []
synonym: "malignant mediastinal soft tissue neoplasm" EXACT [NCIT:C6642]
synonym: "malignant mediastinal soft tissue tumor" EXACT [NCIT:C6642]
synonym: "malignant mediastinal soft tissue tumour" EXACT OMO:0003005 []
synonym: "malignant soft tissue neoplasm of mediastinum" EXACT [NCIT:C6642]
synonym: "malignant soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6642]
synonym: "malignant soft tissue tumor of mediastinum" EXACT [NCIT:C6642]
synonym: "malignant soft tissue tumor of the mediastinum" EXACT [NCIT:C6642]
synonym: "malignant soft tissue tumour of mediastinum" EXACT OMO:0003005 []
synonym: "malignant soft tissue tumour of the mediastinum" EXACT OMO:0003005 []
synonym: "mediastinal mesenchymal tumor, malignant" EXACT [MONDO:patterns/malignant]
xref: MEDGEN:277335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6642 {source="MONDO:equivalentTo"}
xref: UMLS:C1334599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277335"}
is_a: MONDO:0003512 {source="MONDO:Redundant", source="NCIT:C6642"} ! mediastinal mesenchymal tumor
is_a: MONDO:0005843 {source="MONDO:Redundant", source="NCIT:C6642"} ! mediastinal cancer
is_a: MONDO:0024637 {source="NCIT:C6642"} ! malignant soft tissue neoplasm
intersection_of: MONDO:0003512 ! mediastinal mesenchymal tumor
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0037744
name: neoplasm of retromolar area
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neoplasm of retromolar area" EXACT []
synonym: "tumor of retromolar area" RELATED []
synonym: "tumour of retromolar area" RELATED OMO:0003005 []
xref: MEDGEN:577022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:126804008 {source="MONDO:equivalentTo"}
xref: UMLS:C0345590 {source="MEDGEN:577022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021580 ! neoplasm of jaw

[Term]
id: MONDO:0037745
name: fibromyxoid tumor
def: "A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present." [NCIT:C66760]
subset: otar {source="MONDO:OTAR"}
synonym: "fibromyxoid neoplasm" EXACT [NCIT:C66760]
synonym: "fibromyxoid tumor" EXACT [NCIT:C66760]
synonym: "fibromyxoma" EXACT [NCIT:C66760]
synonym: "fibromyxoma, benign" EXACT [NCIT:C66760]
xref: ICDO:8811/0 {source="NCIT:C66760"}
xref: MEDGEN:60023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C66760 {source="MONDO:equivalentTo"}
xref: UMLS:C0205766 {source="MEDGEN:60023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006424 {source="NCIT:C66760/inferred", source="NCIT:C7148"} ! soft tissue neoplasm

[Term]
id: MONDO:0037746
name: malignant vaginal mixed epithelial and mesenchymal neoplasm
def: "A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma." [NCIT:C40276]
synonym: "malignant vaginal mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40276]
synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40276]
synonym: "malignant vaginal mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 []
xref: MEDGEN:307683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40276 {source="MONDO:equivalentTo"}
xref: UMLS:C1512974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:307683"}
is_a: MONDO:0001402 {source="NCIT:C40276"} ! vaginal cancer
is_a: MONDO:0005853 {source="NCIT:C40276"} ! malignant mixed neoplasm

[Term]
id: MONDO:0037747
name: spinal injury
def: "A injury that involves the vertebral column." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "injury of vertebral column" EXACT []
synonym: "vertebral column injury" EXACT [MONDO:patterns/location]
xref: MESH:D013124 {source="MONDO:equivalentTo"}
xref: SCTID:262521009 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0021178 ! injury
intersection_of: disease_has_location UBERON:0001130 ! vertebral column

[Term]
id: MONDO:0037748
name: hyperlipoproteinemia
def: "An elevated concentration of lipoproteins." [NCIT:C34709]
subset: otar {source="MONDO:OTAR"}
synonym: "hyperlipoproteinemia" EXACT [NCIT:C34709]
xref: HP:0010980 {source="MONDO:otherHierarchy"}
xref: MEDGEN:9363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006951 {source="MONDO:equivalentTo"}
xref: NCIT:C34709 {source="MONDO:equivalentTo"}
xref: UMLS:C0020476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9363"}
is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C34709"} ! metabolic disease
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_has_major_feature HP:0010980 ! Hyperlipoproteinemia

[Term]
id: MONDO:0037792
name: carbohydrate metabolism disease
def: "A disease that has its basis in the disruption of carbohydrate metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
subset: otar {source="MONDO:OTAR"}
synonym: "carbohydrate metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "disorder of carbohydrate metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of carbohydrate metabolism" EXACT []
xref: MEDGEN:472889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100164 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:20957000 {source="MONDO:equivalentTo"}
xref: UMLS:C0149670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:472889"}
is_a: MONDO:0005066 {source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate metabolic process

[Term]
id: MONDO:0037807
name: glycerol metabolism disease
def: "A disease that has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycerol metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycerol metabolism" EXACT []
synonym: "glycerol metabolic process disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:575210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237977000 {source="MONDO:equivalentTo"}
xref: UMLS:C0342762 {source="MEDGEN:575210", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006071 ! glycerol metabolic process

[Term]
id: MONDO:0037821
name: porphyrin metabolism disease
def: "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of porphyrin and heme metabolism" RELATED []
synonym: "disorder of porphyrin metabolism" EXACT []
synonym: "disorder of porphyrin-containing compound metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "porphyrin-containing compound metabolic process disease" EXACT [MONDO:design_pattern]
xref: SCTID:29094004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006778 ! porphyrin-containing compound metabolic process

[Term]
id: MONDO:0037829
name: purine metabolism disease
def: "A disease that has its basis in the disruption of purine nucleobase metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of purine metabolism" EXACT []
synonym: "disorder of purine nucleobase metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "purine nucleobase metabolic process disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:541199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:32612005 {source="MONDO:equivalentTo"}
xref: UMLS:C0268104 {source="MEDGEN:541199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006144 ! purine nucleobase metabolic process

[Term]
id: MONDO:0037847
name: vertebral joint disorder
def: "A disease that involves the intervertebral joint." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of intervertebral joint" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of intervertebral joint" EXACT []
synonym: "disorder of intervertebral joint" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of joint of spine" EXACT []
synonym: "intervertebral joint disease" EXACT [MONDO:design_pattern]
synonym: "intervertebral joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "spondyloarthropathy" RELATED []
xref: EFO:0009477 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: SCTID:372109003 {source="MONDO:equivalentTo"}
is_a: MONDO:0000812 {source="MONDO:Redundant"} ! vertebral column disorder
is_a: MONDO:0006816 {source="MONDO:Redundant"} ! arthropathy
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001468 ! intervertebral joint

[Term]
id: MONDO:0037858
name: inherited fatty acid metabolism disorder
def: "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources." [NCIT:C117115]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of fat oxidation" RELATED []
synonym: "disorder of fatty acid metabolism" EXACT []
synonym: "disorders of fatty-acid metabolism" RELATED []
synonym: "fatty acid metabolism disorder" EXACT [NCIT:C117115]
synonym: "inherited fatty acid metabolism disorder" EXACT CLINGEN_LABEL []
xref: MEDGEN:468968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100162 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C117115 {source="MONDO:equivalentTo"}
xref: SCTID:39929009 {source="MONDO:equivalentTo"}
xref: UMLS:C0268634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:468968"}
is_a: MONDO:0002525 {source="NCIT:C117115"} ! inherited lipid metabolism disorder
is_a: MONDO:0019052 ! inborn errors of metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_disrupts GO:0006631 ! fatty acid metabolic process

[Term]
id: MONDO:0037860
name: obsolete rare systemic or rheumatologic disease
subset: ordo_group_of_disorders {source="Orphanet:98023"}
xref: GARD:22525 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98023 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI
is_obsolete: true
consider: MONDO:0005554

[Term]
id: MONDO:0037870
name: valine metabolism disease
def: "A disease that has its basis in the disruption of valine metabolic process." [MONDO:design_pattern]
synonym: "disorder of valine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of valine metabolism" EXACT []
synonym: "valine metabolic process disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:753614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:444756000 {source="MONDO:equivalentTo"}
xref: UMLS:C2919304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:753614"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006573 ! valine metabolic process

[Term]
id: MONDO:0037871
name: amino acid metabolism disease
def: "A disease that has its basis in the disruption of cellular amino acid metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
subset: otar {source="MONDO:OTAR"}
synonym: "amino acid disorder" EXACT [SCTID:44779003]
synonym: "amino acid metabolism disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "amino acidopathy" EXACT [SCTID:44779003]
synonym: "cellular amino acid metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "disorder of amino acid metabolism" EXACT [SCTID:44779003]
synonym: "disorder of cellular amino acid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
xref: NANDO:2100160 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:190680002
xref: SCTID:44779003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006520 ! amino acid metabolic process

[Term]
id: MONDO:0037872
name: bordetellosis
def: "Any disease caused by infection with organisms of the genus Bordetella." [https://doi.org/10.1086/589713]
comment: B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep. {source="https://doi.org/10.1086/589713]"}
subset: otar {source="MONDO:OTAR"}
synonym: "Bordetella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bordetella disease or disorder" EXACT []
synonym: "Bordetella Infection" RELATED [MESH:D001885]
synonym: "Bordetella infection" RELATED [UMLS:C0006015]
synonym: "Bordetella Infections" RELATED [MESH:D001885]
synonym: "Bordetella infectious disease" EXACT []
synonym: "Bordetellosis" RELATED [UMLS:C0006015]
synonym: "bordetellosis" EXACT []
synonym: "INFECT BORDETELLA" RELATED [MESH:D001885]
synonym: "Infection, Bordetella" RELATED [MESH:D001885]
synonym: "Infections, Bordetella" RELATED [MESH:D001885]
xref: ICD9:041.85
xref: MEDGEN:637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001885 {source="UMLS:C0006015", source="MONDO:equivalentTo"}
xref: SCTID:26484003 {source="UMLS:C0006015", source="MONDO:equivalentTo"}
xref: UMLS:C0006015 {source="MEDGEN:637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021678 {source="MESH:D001885"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:517 ! Bordetella

[Term]
id: MONDO:0037937
name: pyrimidine metabolism disease
def: "A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process." [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of pyrimidine metabolism" EXACT []
synonym: "disorder of pyrimidine nucleobase metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "pyrimidine nucleobase metabolic process disease" EXACT [MONDO:design_pattern]
xref: SCTID:85444005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005066 {source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006206 ! pyrimidine nucleobase metabolic process

[Term]
id: MONDO:0037938
name: inborn disorder of aspartate family metabolism
def: "An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process." [MONDO:patterns/inborn_metabolic]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "inborn aspartate family amino acid metabolic process disorder" EXACT []
synonym: "inborn error of aspartate family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "rare inborn error of aspartate family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0009066 ! aspartate family amino acid metabolic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0037939
name: porphyria
def: "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Porphyria]
comment: Represents both genetic and sporadic forms
subset: otar {source="MONDO:OTAR"}
synonym: "porphyria" EXACT []
xref: MEDGEN:10865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200811 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:418470004 {source="MONDO:equivalentTo"}
xref: UMLS:C0032708 {source="MEDGEN:10865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0037821 ! porphyrin metabolism disease

[Term]
id: MONDO:0037940
name: inherited auditory system disease
def: "An instance of auditory system disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "auditory system hereditary disorder" EXACT []
synonym: "hereditary auditory system disease" EXACT [MONDO:patterns/hereditary]
synonym: "inherited auditory system disease" EXACT CLINGEN_LABEL []
xref: MEDGEN:707712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:362991006 {source="MONDO:equivalentTo"}
xref: UMLS:C1285174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:707712"}
is_a: MONDO:0002409 {source="MONDO:Redundant"} ! auditory system disorder
intersection_of: MONDO:0002409 ! auditory system disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0038261
name: obsolete genetic neurological channelopathy of the central nervous system
subset: ordo_group_of_disorders {source="Orphanet:98743"}
xref: GARD:19568 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98743 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0038268
name: obsolete autoimmune neurological channelopathy
subset: ordo_group_of_disorders {source="Orphanet:98750"}
xref: GARD:19575 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:98750 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0040500
name: glycosylphosphatidylinositol biosynthesis defect 16
subset: gard_rare {source="GARD:22577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycosylphosphatidylinositol biosynthesis defect 16" EXACT [OMIM:617816]
synonym: "GPIBD16" RELATED ABBREVIATION [OMIM:617816]
synonym: "intellectual disability, autosomal recessive 62" RELATED [OMIM:617816]
synonym: "mental retardation, autosomal recessive 62" RELATED DEPRECATED [OMIM:617816]
xref: DOID:0081223 {source="MONDO:equivalentTo"}
xref: GARD:22577 {source="MONDO:GARD"}
xref: MEDGEN:1628197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617816 {source="MONDO:equivalentTo"}
xref: Orphanet:88616 {source="OMIM:617816"}
xref: UMLS:C4540521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1628197"}
is_a: MONDO:0019502 {source="OMIM:617816"} ! autosomal recessive non-syndromic intellectual disability
relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process

[Term]
id: MONDO:0040501
name: ehlers-danlos syndrome, arthrochalasia type, 2
subset: gard_rare {source="GARD:16256", source="MONDO:GARD"}
subset: rare
synonym: "EDS 7B" RELATED [OMIM:617821]
synonym: "EDS VIIB" RELATED []
synonym: "EDSARTH2" RELATED ABBREVIATION [OMIM:617821]
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED [OMIM:617821]
synonym: "Ehlers-Danlos syndrome, type VIIb, Autosomal dominant" RELATED [OMIM:617821]
xref: DOID:0080728 {source="MONDO:equivalentTo"}
xref: GARD:16256 {source="MONDO:GARD"}
xref: OMIM:617821 {source="MONDO:equivalentTo"}
xref: Orphanet:1899 {source="OMIM:617821"}
xref: Orphanet:99876 {source="OMIM:617821"}
is_a: MONDO:0020066 {source="OMIM:617821"} ! Ehlers-Danlos syndrome

[Term]
id: MONDO:0040502
name: glucocorticoid deficiency 5
subset: gard_rare {source="GARD:16257", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GCCD5" RELATED ABBREVIATION [OMIM:617825]
synonym: "glucocorticoid deficiency 5" EXACT [OMIM:617825]
xref: GARD:16257 {source="MONDO:GARD"}
xref: MEDGEN:1614419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617825 {source="MONDO:equivalentTo"}
xref: Orphanet:361 {source="OMIM:617825"}
xref: UMLS:C4540522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1614419"}
is_a: MONDO:0008733 {source="OMIM:617825"} ! familial glucocorticoid deficiency

[Term]
id: MONDO:0040503
name: blepharocheilodontic syndrome 2
def: "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:16244", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BCDS2" RELATED ABBREVIATION [OMIM:617681]
synonym: "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1" EXACT []
synonym: "BLEPHAROCHEILODONTIC syndrome 2" RELATED [OMIM:617681]
synonym: "CTNND1 blepharo-cheilo-odontic syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
xref: DOID:0080346 {source="MONDO:equivalentTo"}
xref: GARD:16244 {source="MONDO:GARD"}
xref: MEDGEN:1623594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617681 {source="MONDO:equivalentTo", source="DOID:0080346"}
xref: UMLS:C4540127 {source="MEDGEN:1623594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007339 {source="DOID:0080346", source="OMIM:617681"} ! blepharocheilodontic syndrome
intersection_of: MONDO:0007339 ! blepharocheilodontic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2515 ! CTNND1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2515 {source="MONDO:mim2gene_medgen"} ! CTNND1

[Term]
id: MONDO:0040566
name: inherited glutathione metabolism disease
def: "An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of glutathione metabolism" EXACT [PMID:33340416]
synonym: "glutathione metabolism disorder, inherited" EXACT []
synonym: "inborn error of glutathione metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn error of glutathione metabolism" EXACT []
synonym: "inborn glutathione metabolic process disorder" EXACT []
synonym: "rare inborn error of glutathione metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: MEDGEN:541346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:72262000 {source="MONDO:equivalentTo"}
xref: UMLS:C0268518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541346"}
is_a: MONDO:0019052 {source="PMID:33340416"} ! inborn errors of metabolism
is_a: MONDO:0019241 ! inborn disorder of the gamma-glutamyl cycle
is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006749 ! glutathione metabolic process
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0040653
name: autosomal recessive ocular albinism
def: "Autosomal recessive form of ocular albinism (disease)." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AROA" RELATED ABBREVIATION []
synonym: "autosomal recessive ocular albinism" EXACT []
synonym: "autosomal recessive ocular albinism (disease)" EXACT []
synonym: "ocular albinism (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive]
xref: MEDGEN:541337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:78921008 {source="MONDO:equivalentTo"}
xref: UMLS:C0268503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541337"}
intersection_of: MONDO:0017304 ! ocular albinism
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0040654
name: autosomal dominant oculocutaneous albinism
def: "Autosomal dominant form of oculocutaneous albinism." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant oculocutaneous albinism" EXACT []
synonym: "oculocutaneous albinism, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant]
xref: MEDGEN:541335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:79417003 {source="MONDO:equivalentTo"}
xref: UMLS:C0268499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541335"}
is_a: MONDO:0018910 {source="MONDO:Redundant"} ! oculocutaneous albinism
intersection_of: MONDO:0018910 ! oculocutaneous albinism
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance

[Term]
id: MONDO:0040671
name: class V glucose-6-phosphate dehydrogenase deficiency
comment: Editor note: TODO, see PMID:2633878
subset: inferred_rare
subset: rare
synonym: "favism" RELATED [Orphanet:362]
synonym: "G6PD class V variant anaemia" EXACT OMO:0003005 []
synonym: "G6PD class V variant anemia" EXACT []
synonym: "G6PD deficiency" BROAD [Orphanet:362]
synonym: "glucose-6-phosphate dehydrogenase deficiency class V variant anaemia" EXACT OMO:0003005 []
synonym: "glucose-6-phosphate dehydrogenase deficiency class V variant anemia" EXACT []
xref: MEDGEN:543772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:362 {source="MONDO:equivalentObsolete"}
xref: SCTID:80963002 {source="MONDO:equivalentTo"}
xref: UMLS:C0272060 {source="MEDGEN:543772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005775 ! G6PD deficiency

[Term]
id: MONDO:0040673
name: malignant peritoneal germ cell tumor
def: "A malignant germ cell tumor that affects the peritoneum." [NCIT:C136410]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "malignant peritoneal germ cell tumor" EXACT [NCIT:C136410]
xref: MEDGEN:1612836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C136410 {source="MONDO:equivalentTo"}
xref: UMLS:C4526657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1612836"}
is_a: MONDO:0002087 {source="MONDO:Redundant", source="NCIT:C136410"} ! peritoneum cancer
is_a: MONDO:0003113 {source="NCIT:C136410"} ! extragonadal germ cell cancer
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: disease_has_location UBERON:0002358 ! peritoneum
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant

[Term]
id: MONDO:0040674
name: orgasm disorder
synonym: "abnormal orgasm" RELATED []
synonym: "orgasm disorder" EXACT []
synonym: "orgasmic dysfunction" RELATED []
xref: ICD10CM:F52.3 {source="MONDO:equivalentTo"}
xref: MEDGEN:10472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:82636008 {source="MONDO:equivalentTo"}
xref: UMLS:C0029261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10472"}
is_a: MONDO:0000947 ! psychosexual disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts MF:0000061 ! orgasm

[Term]
id: MONDO:0040675
name: myofibroblastoma
def: "A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma." [NCIT:C49012]
subset: otar {source="MONDO:OTAR"}
synonym: "myofibroblastoma" EXACT [NCIT:C49012]
xref: ICDO:8825/0 {source="NCIT:C49012"}
xref: MEDGEN:66894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C49012 {source="MONDO:equivalentTo"}
xref: UMLS:C0242404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66894"}
is_a: MONDO:0006209 {source="NCIT:C49012/inferred", source="NCIT:C7147"} ! fibroblastic neoplasm

[Term]
id: MONDO:0040676
name: great vessel cancer
def: "A malignant neoplasm arising from the great vessels." [NCIT:C4575]
synonym: "cancer of great vessel of heart" EXACT [MONDO:patterns/cancer]
synonym: "great vessel cancer" EXACT [NCIT:C4575]
synonym: "great vessel of heart cancer" EXACT []
synonym: "malignant great vessel neoplasm" EXACT [NCIT:C4575]
synonym: "malignant great vessel of heart neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant great vessel tumor" EXACT [NCIT:C4575]
synonym: "malignant great vessel tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of great vessel of heart" EXACT [MONDO:patterns/cancer]
xref: MEDGEN:777096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4575 {source="MONDO:equivalentTo"}
xref: UMLS:C3665405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777096"}
is_a: MONDO:0002100 {source="NCIT:C4575"} ! cardiovascular cancer
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0013768 ! great vessel of heart

[Term]
id: MONDO:0040677
name: invasive carcinoma
def: "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma." [NCIT:C9480]
subset: otar {source="MONDO:OTAR"}
synonym: "invasive carcinoma" EXACT [NCIT:C9480]
xref: MEDGEN:233579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9480 {source="MONDO:equivalentTo"}
xref: UMLS:C1334274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233579"}
is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C9480"} ! carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive

[Term]
id: MONDO:0040678
name: infiltrating urothelial carcinoma
def: "A invasive carcinoma that involves the urothelium." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "infiltrating transitional cell carcinoma of the urinary tract" EXACT [NCIT:C39853]
synonym: "infiltrating urothelial carcinoma" EXACT [NCIT:C39853]
xref: MEDGEN:268274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39853 {source="MONDO:equivalentTo"}
xref: UMLS:C1512751 {source="MEDGEN:268274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0040677 {source="MONDO:Redundant", source="NCIT:C39853"} ! invasive carcinoma
intersection_of: MONDO:0040677 ! invasive carcinoma
intersection_of: disease_has_location UBERON:0000365 ! urothelium

[Term]
id: MONDO:0040679
name: urothelial carcinoma
def: "A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary." [NCIT:C4030]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "transitional cell car. -uroth." EXACT [NCIT:C4030]
synonym: "transitional cell carcinoma of the urinary tract" EXACT [NCIT:C4030]
synonym: "transitional cell carcinoma of the urothelial tract" EXACT [NCIT:C4030]
synonym: "Uroepithelial carcinoma" EXACT [NCIT:C4030]
synonym: "urothelial carcinoma" EXACT [NCIT:C4030]
xref: EFO:0008528 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:760495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4030 {source="MONDO:equivalentTo"}
xref: UMLS:C2145472 {source="MEDGEN:760495", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006295 {source="MONDO:Redundant", source="NCIT:C4030"} ! malignant urinary system neoplasm
is_a: MONDO:0006474 {source="EFO:0008528", source="MONDO:Redundant", source="NCIT:C4030"} ! transitional cell carcinoma
is_a: MONDO:0024337 {source="NCIT:C4030"} ! urothelial neoplasm
intersection_of: MONDO:0006474 ! transitional cell carcinoma
intersection_of: disease_has_location UBERON:0001008 ! renal system

[Term]
id: MONDO:0040698
name: subacute bursitis
synonym: "subacute bursitis" EXACT []
xref: MEDGEN:712544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:109298000 {source="MONDO:equivalentTo"}
xref: UMLS:C1290159 {source="MEDGEN:712544", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002471 {source="https://orcid.org/0000-0001-5208-3432"} ! bursitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0040699
name: necrotizing scleritis
def: "A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern." [https://bjo.bmj.com/content/bjophthalmol/92/3/417]
xref: ICD9:379.09 {source="MONDO:i2s"}
xref: MEDGEN:6542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95797003 {source="MONDO:equivalentTo"}
xref: UMLS:C0027547 {source="MEDGEN:6542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0001718 ! scleritis
intersection_of: has_characteristic PATO:0000647 ! necrotic

[Term]
id: MONDO:0040700
name: orbital dermoid cyst
def: "A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative." [NCIT:C4548]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "dermoid cyst of orbit" EXACT [NCIT:C4548]
synonym: "dermoid cyst of the orbit" EXACT [NCIT:C4548]
synonym: "epidermal dermoid cyst" EXACT [PMID:15110666]
synonym: "orbit dermoid cyst" EXACT [NCIT:C4548]
xref: MEDGEN:350581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4548 {source="MONDO:equivalentTo"}
xref: SCTID:255002002 {source="MONDO:equivalentTo"}
xref: UMLS:C1862060 {source="MEDGEN:350581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002378 {source="NCIT:C4548"} ! dermoid cyst
intersection_of: MONDO:0002378 ! dermoid cyst
intersection_of: disease_has_location UBERON:0004088 ! orbital region

[Term]
id: MONDO:0040728
name: Campylobacter fetus infectious disease
synonym: "infection by Campylobacter fetus" EXACT []
synonym: "infection by Campylobacter foetus" EXACT OMO:0003005 []
synonym: "infection by vibrio fetus" RELATED []
synonym: "infection by vibrio foetus" RELATED OMO:0003005 []
synonym: "infection caused by Campylobacter fetus" RELATED []
synonym: "infection caused by Campylobacter foetus" RELATED OMO:0003005 []
synonym: "infection caused by vibrio fetus" RELATED []
synonym: "infection caused by vibrio foetus" RELATED OMO:0003005 []
xref: MEDGEN:547000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111835002 {source="MONDO:equivalentTo"}
xref: UMLS:C0275979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547000"}
is_a: MONDO:0005688 {source="MONDO:Redundant"} ! campylobacteriosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:196 ! Campylobacter fetus

[Term]
id: MONDO:0040732
name: Pseudomonas aeruginosa infectious disease
synonym: "infection caused by Pseudomonas aeruginosa" RELATED []
synonym: "infection due to Pseudomonas aeruginosa" EXACT []
xref: MEDGEN:547066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:11218009 {source="MONDO:equivalentTo"}
xref: UMLS:C0276075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547066"}
is_a: MONDO:0005141 {source="MONDO:Redundant"} ! Pseudomonas infection
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:287 ! Pseudomonas aeruginosa

[Term]
id: MONDO:0040753
name: latent tuberculosis infection
def: "Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives." [https://orcid.org/0000-0002-6670-9157, PMID:29770066, PMID:32553039, PMID:33564476, PMID:33847703]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "inactive TB" EXACT [PMID:29770066, PMID:32553039, PMID:33564476, PMID:33847703]
synonym: "inactive tuberculosis" EXACT [PMID:29770066, PMID:32553039, PMID:33564476, PMID:33847703]
synonym: "LTBI" EXACT ABBREVIATION [PMID:29770066, PMID:32553039, PMID:33564476, PMID:33847703]
synonym: "tuberculosis infection latent" EXACT []
xref: MEDGEN:294255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055985 {source="MONDO:equivalentTo"}
xref: SCTID:11999007 {source="MONDO:equivalentTo"}
xref: UMLS:C1609538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:294255"}
is_a: MONDO:0018076 {source="MESH:D055985"} ! tuberculosis

[Term]
id: MONDO:0040797
name: obsolete vascular headache
def: "OBSOLETE. An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS)." [PMID:3048700, Wikipedia:Vascular_headache]
synonym: "vascular headache" EXACT []
xref: MESH:D014653 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:128187005 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0040870
name: primary polydipsia
def: "A form of polydipsia characterized by excessive fluid intake in the absence of physiological stimuli to drink." [Wikipedia:Primary_polydipsia]
is_a: MONDO:0001162 ! impulse control disorder
relationship: disease_has_feature HP:0001959 ! Polydipsia

[Term]
id: MONDO:0040871
name: psychogenic polydipsia
def: "A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders." [Wikipedia:Primary_polydipsia]
synonym: "psychogenic polydipsia" EXACT []
xref: MEDGEN:452478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:15945005 {source="MONDO:equivalentTo"}
xref: UMLS:C0395005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452478"}
intersection_of: MONDO:0040870 ! primary polydipsia
intersection_of: disease_arises_from_feature MONDO:0005084 ! mental disorder
disjoint_from: MONDO:0040872 ! non-psychogenic polydipsia

[Term]
id: MONDO:0040872
name: non-psychogenic polydipsia
def: "A form of primary polydipsia not caused by underlying psychiatric symptoms." [Wikipedia:Primary_polydipsia]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "idiopathic polydipsia" NARROW []
is_a: MONDO:0040870 ! primary polydipsia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0040922
name: latent early syphilis
synonym: "latent early syphilis" EXACT []
xref: MEDGEN:546880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186867005 {source="MONDO:equivalentTo"}
xref: UMLS:C0275842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:546880"}
is_a: MONDO:0005822 ! latent syphilis

[Term]
id: MONDO:0040923
name: late latent syphilis
def: "Latent syphilis when infection was acquired more than twelve months previously." [NCIT:C128371]
synonym: "late latent syphilis" EXACT []
xref: MEDGEN:687555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128371 {source="MONDO:equivalentTo"}
xref: SCTID:186903006 {source="MONDO:equivalentTo"}
xref: UMLS:C1260915 {source="MEDGEN:687555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004497 ! tertiary syphilis
is_a: MONDO:0005822 {source="NCIT:C128371"} ! latent syphilis

[Term]
id: MONDO:0040925
name: latent yaws
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "latent yaws" EXACT []
xref: MEDGEN:509217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:186973005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509217"}
is_a: MONDO:0006019 {source="https://orcid.org/0000-0001-5208-3432"} ! yaws

[Term]
id: MONDO:0040964
name: obsolete superimposed infection
synonym: "superadded infection" RELATED []
synonym: "superimposed infection" EXACT []
synonym: "suprainfection" RELATED []
xref: SCTID:193198003 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0040998
name: Pasteurella multocida infectious disease
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Pasteurella multocida" EXACT []
synonym: "infection caused by Pasteurella multocida" RELATED []
xref: MEDGEN:226779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:197718007 {source="MONDO:equivalentTo"}
xref: UMLS:C1260911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226779"}
is_a: MONDO:0005901 {source="MONDO:Redundant"} ! pasteurellosis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:747 ! Pasteurella multocida

[Term]
id: MONDO:0041008
name: obsolete contact dermatitis caused by poison oak
synonym: "contact dermatitis caused by poison oak" EXACT []
synonym: "contact dermatitis due to poison oak" EXACT []
xref: SCTID:200824008 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0041052
name: postherpetic neuralgia
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHN - post-herpetic neuralgia" RELATED []
synonym: "post-zoster neuralgia" RELATED []
synonym: "postherpetic neuralgia" EXACT []
xref: MEDGEN:18589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:466673 {source="MONDO:equivalentObsolete"}
xref: SCTID:2177002 {source="MONDO:equivalentTo"}
xref: UMLS:C0032768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18589"}
is_a: MONDO:0021674 ! post-viral disorder
is_a: MONDO:0021677 ! post-infectious neuralgia

[Term]
id: MONDO:0041086
name: mixed anxiety and depressive disorder
subset: otar {source="MONDO:OTAR"}
synonym: "anxiety depression" RELATED []
synonym: "mixed anxiety and depressive disorder" EXACT []
xref: MEDGEN:572834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:231504006 {source="MONDO:equivalentTo"}
xref: UMLS:C0338908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:572834"}
intersection_of: MONDO:0002050 ! depressive disorder
intersection_of: MONDO:0005618 ! anxiety disorder

[Term]
id: MONDO:0041093
name: central retinal vein occlusion with macular edema
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central retinal vein occlusion with macular edema" EXACT []
xref: MEDGEN:573198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:232039004 {source="MONDO:equivalentTo"}
xref: UMLS:C0339498 {source="MEDGEN:573198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0002303 ! central retinal vein occlusion
intersection_of: disease_has_feature MONDO:0003005 ! macular retinal edema
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0041095
name: malignant otitis externa caused by Pseudomonas aeruginosa
def: "An malignant otitis externa caused by infection with Pseudomonas aeruginosa." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "malignant otitis externa caused by Pseudomonas aeruginosa" EXACT []
synonym: "malignant otitis externa due to Pseudomonas aeruginosa" EXACT []
synonym: "Pseudomonas aeruginosa caused malignant otitis externa" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Pseudomonas aeruginosa malignant otitis externa" EXACT []
xref: MEDGEN:583067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:232230009 {source="MONDO:equivalentTo"}
xref: UMLS:C0395818 {source="MONDO:equivalentTo", source="MEDGEN:583067", source="MONDO:MEDGEN"}
is_a: MONDO:0001050 {source="MONDO:Redundant"} ! malignant otitis externa
is_a: MONDO:0005141 ! Pseudomonas infection
intersection_of: MONDO:0001050 ! malignant otitis externa
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:287 ! Pseudomonas aeruginosa

[Term]
id: MONDO:0041114
name: peripheral ischemia
def: "Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries." [MEDGEN:115991]
synonym: "peripheral ischaemic vascular disease" RELATED OMO:0003005 []
synonym: "peripheral ischemia" EXACT []
synonym: "peripheral ischemic vascular disease" RELATED []
xref: MEDGEN:115991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:233958001 {source="MONDO:equivalentTo"}
xref: UMLS:C0235490 {source="MEDGEN:115991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005053 ! ischemic disease
is_a: MONDO:0005386 ! peripheral arterial disease

[Term]
id: MONDO:0041154
name: disorder of neck of urinary bladder
synonym: "functional disorder of bladder neck and sphincter mechanism" EXACT []
xref: MEDGEN:588557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:236644005 {source="MONDO:equivalentTo"}
xref: UMLS:C0403653 {source="MEDGEN:588557", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006026 ! urinary bladder disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001258 ! neck of urinary bladder

[Term]
id: MONDO:0041161
name: obsolete endometrial hyperplasia
def: "OBSOLETE. A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia)." [NCIT:C3013]
synonym: "endometrial hyperplasia" EXACT []
synonym: "hyperplasia of endometrium" EXACT [NCIT:C3013]
synonym: "hyperplasia of the endometrium" EXACT [NCIT:C3013]
xref: DOID:0080365 {source="MONDO:obsoleteEquivalent"}
xref: HP:0040298 {source="MONDO:otherHierarchy"}
xref: MESH:D004714 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:obsoleteEquivalent"}
xref: NCIT:C3013 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:237072009 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI
is_obsolete: true
consider: HP:0040298

[Term]
id: MONDO:0041167
name: carcinoid crisis
def: "A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia." [https://www.carcinoid.org/glossary/carcinoid-crisis/]
comment: Editor note: consider ceding to HPO
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "carcinoid crisis" EXACT []
xref: MEDGEN:575107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237833006 {source="MONDO:equivalentTo"}
xref: UMLS:C0342569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575107"}
is_a: MONDO:0100347 ! carcinoid syndrome

[Term]
id: MONDO:0041182
name: polymorphic light eruption
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "polymorphic light eruption" EXACT []
synonym: "polymorphic photodermatitis" RELATED []
synonym: "polymorphous light eruption" EXACT []
xref: MEDGEN:508043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238525001 {source="MONDO:equivalentTo"}
xref: UMLS:C0031736 {source="MEDGEN:508043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006597 ! photosensitivity disease

[Term]
id: MONDO:0041186
name: Rowell syndrome
def: "A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities." [PMID:19891909, Wikipedia:Rowell%27s_syndrome]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658584"}
subset: orphanet_rare {source="Orphanet:658584"}
subset: rare
synonym: "lupus erythematosus and erythema multiforme-like syndrome" EXACT []
synonym: "Rowell's syndrome" RELATED []
xref: MEDGEN:590567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:658584 {source="MONDO:equivalentTo"}
xref: SCTID:238926009 {source="MONDO:equivalentTo"}
xref: UMLS:C0406637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590567"}
is_a: MONDO:0005282 ! cutaneous lupus erythematosus
relationship: disease_shares_features_of MONDO:0006545 ! erythema multiforme

[Term]
id: MONDO:0041259
name: diphtheritic myocarditis
def: "An myocarditis caused by infection with Corynebacterium diphtheriae." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Corynebacterium diphtheriae caused myocarditis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Corynebacterium diphtheriae myocarditis" EXACT []
synonym: "diphtheritic myocarditis" EXACT []
xref: MEDGEN:509091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:26117009 {source="MONDO:equivalentTo"}
xref: UMLS:C0152952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509091"}
is_a: MONDO:0001114 ! bacterial myocarditis
is_a: MONDO:0005504 {source="MONDO:Redundant"} ! diphtheria
intersection_of: MONDO:0004496 ! myocarditis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1717 ! Corynebacterium diphtheriae

[Term]
id: MONDO:0041261
name: disorder of acid-base balance
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of acid-base balance" EXACT []
synonym: "disturbance of acid-base balance" RELATED []
xref: MEDGEN:541141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:26436007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268029 {source="MEDGEN:541141", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005066 ! metabolic disease
intersection_of: disease_disrupts GO:0006885 ! regulation of pH

[Term]
id: MONDO:0041284
name: primary motor cortex epilepsy
def: "A epilepsy that involves the primary motor cortex." [MONDO:patterns/location]
comment: Editor note: TODO. Request Jacksonian seizures from HP?
synonym: "epilepsy of primary motor cortex" EXACT [MONDO:design_pattern]
synonym: "Jacksonian epilepsy" RELATED []
synonym: "motor cortex epilepsy" RELATED []
synonym: "primary motor cortex epilepsy" EXACT [MONDO:patterns/location]
xref: MEDGEN:536338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:267592003 {source="MONDO:equivalentTo"}
xref: UMLS:C0234978 {source="MEDGEN:536338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002612 {source="MONDO:Redundant", source="Wikipedia:Frontal_lobe_epilepsy"} ! frontal lobe epilepsy
intersection_of: MONDO:0005027 ! epilepsy
intersection_of: disease_has_location UBERON:0001384 ! primary motor cortex

[Term]
id: MONDO:0041295
name: acute papillary necrosis
def: "Acute form of kidney papillary necrosis." [MONDO:patterns/acute]
synonym: "acute kidney papillary necrosis" EXACT [MONDO:design_pattern]
synonym: "acute necrotizing papillitis" RELATED []
synonym: "acute papillary necrosis" EXACT []
synonym: "acute renal medullary necrosis" RELATED []
synonym: "kidney papillary necrosis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: MEDGEN:588410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:270494003 {source="MONDO:equivalentTo"}
xref: UMLS:C0403468 {source="MEDGEN:588410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006821 {source="MONDO:Redundant"} ! kidney papillary necrosis
intersection_of: MONDO:0006821 ! kidney papillary necrosis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0041366
name: acute epiglottitis
def: "Acute form of epiglottitis." [MONDO:patterns/acute]
synonym: "acute epiglottitis" EXACT []
synonym: "acute epiglottitis and supraglottitis" RELATED []
synonym: "epiglottitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute]
xref: MEDGEN:510093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:29608009 {source="MONDO:equivalentTo"}
xref: UMLS:C0155814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510093"}
is_a: MONDO:0004777 ! acute laryngitis
is_a: MONDO:0005753 {source="MONDO:Redundant"} ! epiglottitis
intersection_of: MONDO:0005753 ! epiglottitis
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0041403
name: toxic amblyopia
def: "A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Toxic_amblyopia]
synonym: "nutritional optic neuropathy" NARROW [Wikipedia:Toxic_amblyopia]
synonym: "tobacco amblyopia" NARROW []
xref: MEDGEN:536749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:30483005 {source="MONDO:equivalentTo"}
xref: UMLS:C0237979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536749"}
is_a: MONDO:0001019 ! suppression amblyopia
intersection_of: MONDO:0001020 ! amblyopia
intersection_of: realized_in_response_to ECTO:0000231 ! exposure to chemical
relationship: disease_has_basis_in_dysfunction_of UBERON:0000941 ! cranial nerve II

[Term]
id: MONDO:0041440
name: obsolete functional visual loss
synonym: "functional visual loss" EXACT []
synonym: "nonphysiologic acuity loss" RELATED []
synonym: "nonphysiologic vision loss" RELATED []
xref: SCTID:313165001 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0041447
name: metastatic malignant neoplasm in the colon
def: "The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site." [NCIT:C8411]
subset: otar {source="MONDO:OTAR"}
synonym: "metastatic malignant neoplasm in the colon" EXACT [NCIT:C8411]
synonym: "metastatic malignant neoplasm to the colon" EXACT [NCIT:C8411]
synonym: "metastatic neoplasm to the colon" EXACT [NCIT:C8411]
synonym: "metastatic tumor to the colon" EXACT [NCIT:C8411]
synonym: "metastatic tumour to the colon" EXACT OMO:0003005 []
xref: MEDGEN:83432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8411 {source="MONDO:equivalentTo"}
xref: UMLS:C0346974 {source="MEDGEN:83432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C4581", source="NCIT:C8411/inferred"} ! metastatic malignant neoplasm
intersection_of: MONDO:0024880 ! metastatic malignant neoplasm
intersection_of: disease_arises_from_feature MONDO:0021063 ! malignant colon neoplasm
relationship: excluded_subClassOf MONDO:0021063 {source="NCIT:C8411", source="https://orcid.org/0000-0001-5208-3432"} ! malignant colon neoplasm

[Term]
id: MONDO:0041448
name: metastasis from malignant tumor of colon
synonym: "metastasis from malignant tumor of colon" EXACT []
xref: MEDGEN:705366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:314998002 {source="MONDO:equivalentTo"}
xref: UMLS:C1282500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:705366"}
is_a: MONDO:0024881 ! secondary malignant neoplasm
intersection_of: MONDO:0021063 ! malignant colon neoplasm
intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic

[Term]
id: MONDO:0041526
name: pregnancy disorder with abortive outcome
synonym: "intrauterine fetal death" EXACT [https://orcid.org/0000-0001-7151-1615, PMID:32491465]
synonym: "intrauterine fetal demise" EXACT [https://orcid.org/0000-0001-7151-1615, PMID:32491465]
synonym: "IUFD" EXACT ABBREVIATION [https://orcid.org/0000-0001-7151-1615, PMID:32491465]
synonym: "pregnancy with abortive outcome" RELATED [https://orcid.org/0000-0001-7151-1615, PMID:32491465]
synonym: "stillbirth" EXACT [https://orcid.org/0000-0001-7151-1615, PMID:32491465]
xref: ICD10CM:O00-O08 {source="MONDO:equivalentTo"}
xref: MEDGEN:102352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:363681007 {source="MONDO:equivalentTo"}
xref: UMLS:C0156543 {source="MEDGEN:102352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024575 {source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder

[Term]
id: MONDO:0041535
name: mesenteric lymphadenitis due to Yersinia infection
def: "An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "lymphadenitis mesenterialis Masshoff" EXACT []
synonym: "Masshoff's syndrome" EXACT []
synonym: "mesenteric lymphadenitis due to Yersinia pseudotuberculosis" EXACT []
synonym: "Yersinia pseudotuberculosis caused mesenteric lymphadenitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Yersinia pseudotuberculosis mesenteric lymphadenitis" EXACT []
xref: MEDGEN:546804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:13272007 {source="MONDO:equivalentTo"}
xref: UMLS:C0275758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:546804"}
is_a: MONDO:0007024 {source="MONDO:Redundant"} ! Yersinia pseudotuberculosis infectious disease
intersection_of: MONDO:0001116 ! mesenteric lymphadenitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:633 ! Yersinia pseudotuberculosis

[Term]
id: MONDO:0041536
name: Far-East scarlet-like fever
def: "A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe." [PMID:26819960]
synonym: "FESLF" EXACT ABBREVIATION [PMID:26819960]
synonym: "Izumi fever" EXACT [PMID:26819960]
xref: MEDGEN:548219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:47277009 {source="MONDO:equivalentTo"}
xref: UMLS:C0277513 {source="MONDO:equivalentTo", source="MEDGEN:548219", source="MONDO:MEDGEN"}
is_a: MONDO:0007024 {source="PMID:26819960"} ! Yersinia pseudotuberculosis infectious disease

[Term]
id: MONDO:0041656
name: ST-elevation myocardial infarction
def: "A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG." [https://www.ecgmedicaltraining.com/what-is-a-stemi/]
synonym: "acute-ST segment elevation myocardial infarction" EXACT []
synonym: "ST segment elevation myocardial infarction" EXACT []
synonym: "STEMI" EXACT ABBREVIATION [https://www.ecgmedicaltraining.com/what-is-a-stemi/]
xref: MESH:D000072657 {source="MONDO:equivalentTo"}
xref: SCTID:401303003 {source="MONDO:equivalentTo"}
is_a: MONDO:0004781 ! acute myocardial infarction

[Term]
id: MONDO:0041751
name: multibacillary leprosy
def: "A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response." [https://orcid.org/0000-0002-6601-2165, PMID:27219008]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lepromatous leprosy" RELATED [https://orcid.org/0000-0002-6601-2165, PMID:27219008]
synonym: "multibacillary leprosy" EXACT []
xref: MEDGEN:288329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056006 {source="MONDO:equivalentTo"}
xref: SCTID:416257001 {source="MONDO:equivalentTo"}
xref: UMLS:C1562585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:288329"}
is_a: MONDO:0005124 {source="https://orcid.org/0000-0001-5208-3432"} ! leprosy
relationship: disease_triggers GO:0042092 ! type 2 immune response

[Term]
id: MONDO:0041752
name: paucibacillary leprosy
def: "A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response." [https://orcid.org/0000-0002-6601-2165, PMID:27219008]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "paucibacillary leprosy" EXACT []
synonym: "tuberculoid leprosy" RELATED [https://orcid.org/0000-0002-6601-2165, PMID:27219008]
xref: MEDGEN:288331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056005 {source="MONDO:equivalentTo"}
xref: SCTID:416483009 {source="MONDO:equivalentTo"}
xref: UMLS:C1562908 {source="MEDGEN:288331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005124 {source="https://orcid.org/0000-0001-5208-3432"} ! leprosy
relationship: disease_triggers GO:0042088 ! T-helper 1 type immune response

[Term]
id: MONDO:0041755
name: twin reversal arterial perfusion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "twin reversal arterial perfusion syndrome" EXACT []
xref: MEDGEN:736778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:417006004 {source="MONDO:equivalentTo"}
xref: UMLS:C1562817 {source="MEDGEN:736778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019805 ! twin to twin transfusion syndrome

[Term]
id: MONDO:0041775
name: intraoperative floppy iris syndrome
synonym: "intraoperative floppy iris syndrome" EXACT []
xref: MEDGEN:739048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:418801006 {source="MONDO:equivalentTo"}
xref: UMLS:C1688637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:739048"}
is_a: MONDO:0002289 ! iris disorder

[Term]
id: MONDO:0041806
name: drug-resistant tuberculosis
def: "Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications." [https://orcid.org/0000-0002-6670-9157, PMID:24809736]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "drug resistant tuberculosis" EXACT []
xref: ICD10CM:Z16-Z16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:61616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:423709000 {source="MONDO:equivalentTo"}
xref: UMLS:C0206525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61616"}
is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis

[Term]
id: MONDO:0041825
name: bacterial meningitis caused by gram-negative bacteria
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bacterial meningitis caused by gram-negative bacteria" EXACT []
synonym: "bacterial meningitis due to gram-negative bacteria" EXACT []
synonym: "gram-negative bacterial meningitis" RELATED []
synonym: "meningitis with gram negative bacteria" RELATED []
synonym: "meningitis with gramme negative bacteria" RELATED OMO:0003005 []
xref: MEDGEN:678524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:425887005 {source="MONDO:equivalentTo"}
xref: UMLS:C0854215 {source="MEDGEN:678524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0006670 ! bacterial meningitis
intersection_of: MONDO:0021678 ! gram-negative bacterial infections

[Term]
id: MONDO:0041850
name: pneumonia caused by gram negative bacteria
synonym: "gram negative pneumonia" RELATED []
synonym: "gramme negative pneumonia" RELATED OMO:0003005 []
synonym: "pneumonia caused by gram negative bacteria" EXACT []
synonym: "pneumonia caused by gram-negative bacteria" RELATED []
synonym: "pneumonia due to gram negative bacteria" EXACT []
synonym: "pneumonia due to gram-negative bacteria" RELATED []
synonym: "pneumonia due to gramme negative bacteria" EXACT OMO:0003005 []
xref: MEDGEN:678525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:430395005 {source="MONDO:equivalentTo"}
xref: UMLS:C0854248 {source="MONDO:equivalentTo", source="MEDGEN:678525", source="MONDO:MEDGEN"}
intersection_of: MONDO:0004652 ! bacterial pneumonia
intersection_of: MONDO:0021678 ! gram-negative bacterial infections

[Term]
id: MONDO:0041879
name: staphylococcus aureus pneumonia
def: "An pneumonia caused by infection with Staphylococcus aureus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "pneumonia caused by staphylococcus aureus" RELATED []
synonym: "pneumonia due to staphylococcus aureus" EXACT []
synonym: "Staphylococcus aureus caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Staphylococcus aureus pneumonia" EXACT []
synonym: "staphylococcus aureus pneumonia" EXACT []
xref: MEDGEN:167803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:441658007 {source="MONDO:equivalentTo"}
xref: UMLS:C0857862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167803"}
is_a: MONDO:0005545 {source="MONDO:Redundant"} ! staphylococcus aureus infection
is_a: MONDO:0005970 {source="MONDO:Redundant"} ! staphylococcal pneumonia
intersection_of: MONDO:0005249 ! pneumonia
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1280 ! Staphylococcus aureus

[Term]
id: MONDO:0041903
name: gonococcal infection of joint
synonym: "gonococcal arthritis" RELATED []
synonym: "gonococcal infection of joint" EXACT []
synonym: "gonococcal joint infection" RELATED []
synonym: "gonococcal rheumatism" RELATED []
xref: MEDGEN:509210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:44743006 {source="MONDO:equivalentTo"}
xref: UMLS:C0153216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509210"}
is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea
is_a: MONDO:0004471 ! bacterial arthritis
is_a: MONDO:0021681 ! sexually transmitted disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrhoeae
intersection_of: disease_has_inflammation_site UBERON:0000982 ! skeletal joint

[Term]
id: MONDO:0041959
name: fibrosis of bile duct
synonym: "biliary duct fibrosis" RELATED []
synonym: "biliary sclerosis" RELATED []
synonym: "fibrosis of bile duct" EXACT []
xref: MEDGEN:636068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:48124008 {source="MONDO:equivalentTo"}
xref: UMLS:C0520571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:636068"}
is_a: MONDO:0002887 ! bile duct disorder

[Term]
id: MONDO:0041996
name: thallium poisoning
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "thallium poisoning" EXACT []
xref: SCTID:51040009 {source="MONDO:equivalentTo"}
is_a: MONDO:0023305 ! heavy metal poisoning

[Term]
id: MONDO:0042233
name: disseminated candidiasis
def: "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes." [Wikipedia:Candidiasis]
subset: otar {source="MONDO:OTAR"}
synonym: "disseminated candida" RELATED []
synonym: "disseminated candidiasis" EXACT []
synonym: "disseminated candidosis" RELATED []
synonym: "invasive candidiasis" RELATED []
synonym: "systemic candida infections" RELATED [GARD:0001076]
synonym: "systemic candidiasis" RELATED []
xref: MEDGEN:102260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116812 {source="MONDO:equivalentTo"}
xref: SCTID:70572005 {source="MONDO:equivalentTo"}
xref: UMLS:C0153252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102260"}
is_a: MONDO:0002026 {source="MONDO:Redundant", source="NCIT:C116812"} ! candidiasis
intersection_of: MONDO:0002026 ! candidiasis
intersection_of: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0042370
name: Yersinia enterocolitica infectious disease
subset: otar {source="MONDO:OTAR"}
synonym: "infection by Yersinia enterocolitica" EXACT []
synonym: "infection caused by Yersinia enterocolitica" RELATED []
xref: EFO:0009424 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: SCTID:80960004 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:630 ! Yersinia enterocolitica

[Term]
id: MONDO:0042433
name: mycotic endocarditis
def: "An endocarditis (disease) caused by infection with Fungi." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fungal endocarditis" RELATED []
synonym: "Fungi caused endocarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi endocarditis (disease)" EXACT []
synonym: "mycotic endocarditis" EXACT []
xref: MEDGEN:547460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:86348002 {source="MONDO:equivalentTo"}
xref: UMLS:C0276648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547460"}
is_a: MONDO:0000565 {source="MONDO:Redundant"} ! infective endocarditis
is_a: MONDO:0002041 {source="MONDO:Redundant"} ! fungal infectious disease
intersection_of: MONDO:0005025 ! endocarditis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0042451
name: endomyometritis
def: "An inflammation of the endometrium and the myometrium." [ISBN-13:978-0-7817-5532-0, Wikipedia:Endometritis#cite_note-isbn0-7817-5532-8-2]
synonym: "endomyometritis" EXACT []
xref: MEDGEN:75710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:88027004 {source="MONDO:equivalentTo"}
xref: UMLS:C0269050 {source="MEDGEN:75710", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000918 {source="MONDO:Redundant"} ! endometritis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001295 ! endometrium
intersection_of: disease_has_inflammation_site UBERON:0001296 ! myometrium

[Term]
id: MONDO:0042452
name: tertiary lesion of yaws
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tertiary lesion of yaws" EXACT []
synonym: "tertiary stage of yaws" RELATED []
synonym: "tertiary yaws" RELATED []
xref: MEDGEN:575866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:88037009 {source="MONDO:equivalentTo"}
xref: UMLS:C0343833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575866"}
is_a: MONDO:0006019 {source="https://orcid.org/0000-0001-5208-3432"} ! yaws

[Term]
id: MONDO:0042458
name: Trichinella spiralis infectious disease
def: "An disease or disorder caused by infection with Trichinella spiralis." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infection by larvae of Trichinella spiralis" EXACT []
synonym: "infection caused by larvae of Trichinella spiralis" RELATED []
synonym: "Trichinella spiralis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Trichinella spiralis disease or disorder" EXACT []
synonym: "trichinelliasis caused by Trichinella spiralis" RELATED []
synonym: "trichinellosis caused by Trichinella spiralis" RELATED []
synonym: "trichiniasis caused by Trichinella spiralis" RELATED []
synonym: "trichinosis caused by Trichinella spiralis" RELATED []
xref: MEDGEN:854509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:88264003 {source="MONDO:equivalentTo"}
xref: UMLS:C3887668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854509"}
is_a: MONDO:0019444 ! trichinellosis
intersection_of: MONDO:0000001 {source="MONDO:Wikidata"} ! disease
intersection_of: disease_has_infectious_agent NCBITaxon:6334 {source="MONDO:Wikidata"} ! Trichinella spiralis

[Term]
id: MONDO:0042484
name: disseminated sporotrichosis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "disseminated sporotrichosis" EXACT []
xref: MEDGEN:547522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:91051003 {source="MONDO:equivalentTo"}
xref: UMLS:C0276725 {source="MEDGEN:547522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005968 {source="MONDO:Redundant"} ! sporotrichosis
intersection_of: MONDO:0005968 ! sporotrichosis
intersection_of: has_characteristic MONDO:0022202 ! disseminated

[Term]
id: MONDO:0042485
name: infective arthritis
def: "The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." [NCIT:C26700]
subset: otar {source="MONDO:OTAR"}
synonym: "infective arthritis" EXACT [NCIT:C26700]
synonym: "septic arthritis" RELATED [NCIT:C26700]
xref: MEDGEN:13918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26700 {source="MONDO:equivalentTo"}
xref: UMLS:C0003869 {source="MEDGEN:13918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005578 {source="MONDO:Redundant", source="NCIT:C26700"} ! arthritic joint disease
intersection_of: MONDO:0005578 ! arthritic joint disease
intersection_of: disease_has_infectious_agent NCBITaxon:1 ! root

[Term]
id: MONDO:0042486
name: polyposis syndrome, hereditary mixed, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: predisposition
subset: rare
synonym: "chromosome 15Q13-q14 Duplication syndrome, 40-Kb" RELATED [OMIM:601228]
synonym: "colorectal adenoma and carcinoma 1" RELATED [OMIM:601228]
synonym: "colorectal cancer, susceptibility to, 4" RELATED [OMIM:601228]
synonym: "colorectal cancer, susceptibility to, on chromosome 15" RELATED [OMIM:601228]
synonym: "HMPS1" RELATED ABBREVIATION [OMIM:601228]
synonym: "polyposis syndrome, hereditary mixed 1" EXACT [OMIM:601228, OMIM:genemap2]
synonym: "polyposis syndrome, hereditary mixed, 1" EXACT CLINGEN_LABEL [OMIM:601228]
xref: DOID:0111685 {source="MONDO:equivalentTo"}
xref: MEDGEN:331320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601228 {source="MONDO:equivalentTo"}
xref: Orphanet:157794 {source="OMIM:601228"}
xref: UMLS:C1832587 {source="MEDGEN:331320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011023 ! hereditary mixed polyposis syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0042487
name: uterine cervix carcinoma in situ
def: "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" [NCIT:C4000]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma in situ of cervix" EXACT [DOID:8991]
synonym: "carcinoma in situ of cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of cervix uteri aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of the cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of the cervix uteri aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of the uterine cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma in situ of uterine cervix" EXACT [DOID:8991, MONDO:patterns/carcinoma_in_situ]
synonym: "carcinoma in situ of uterine cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "carcinoma of cervix stage 0" EXACT [DOID:8991]
synonym: "cervical cancer stage 0 aJCC v6" EXACT [NCIT:C4000]
synonym: "cervical carcinoma in situ aJCC v6" EXACT [NCIT:C4000]
synonym: "cervical intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" EXACT [DOID:8991]
synonym: "cervical Severe dysplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix Ca in situ" EXACT [DOID:8991]
synonym: "cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix Severe dysplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix uteri carcinoma in situ" RELATED [DOID:8991]
synonym: "cervix uteri carcinoma in situ aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix uteri intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "cervix uteri Severe dysplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "CIN 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "CIN grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "CIN III" EXACT [DOID:8991]
synonym: "CIN III - carcinoma in situ of cervix" EXACT [DOID:8991]
synonym: "CIN III - severe dyskaryosis" EXACT [DOID:8991]
synonym: "FIGO stage 0 carcinoma of cervix" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of cervix uteri" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of the cervix" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of the cervix uteri" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of the uterine cervix" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 carcinoma of uterine cervix" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 cervical carcinoma" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 cervix carcinoma" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 cervix uteri carcinoma" EXACT [NCIT:C4000]
synonym: "FIGO stage 0 uterine cervix carcinoma" EXACT [NCIT:C4000]
synonym: "grade 3 cervical intraepithelial neoplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of cervix grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of cervix uteri grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of the cervix grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "intraepithelial neoplasia of uterine cervix grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "severe cervical dysplasia aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of cervix" EXACT [DOID:8991]
synonym: "severe dysplasia of cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of cervix uteri aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of the cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of the cervix uteri" RELATED EXCLUDE [DOID:8991]
synonym: "severe dysplasia of the cervix uteri aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of the uterine cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "severe dysplasia of uterine cervix aJCC v6" EXACT [NCIT:C4000]
synonym: "squamous intraepithelial neoplasia, grade III" EXACT [DOID:8991]
synonym: "stage 0 cervical cancer" EXACT [NCIT:C4000]
synonym: "stage 0 cervical cancer aJCC v6" EXACT [NCIT:C4000]
synonym: "stage 0 uterine cervix carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ]
synonym: "uterine cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000]
synonym: "uterine cervix intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000]
synonym: "uterine cervix Severe dysplasia aJCC v6" EXACT [NCIT:C4000]
xref: DOID:8991 {source="MONDO:equivalentTo"}
xref: ICD10CM:D06 {source="DOID:8991"}
xref: ICD10CM:D06.9 {source="DOID:8991"}
xref: ICD9:233.1 {source="DOID:8991"}
xref: MEDGEN:163094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018290 {source="MONDO:equivalentTo", source="DOID:8991"}
xref: NCIT:C4000 {source="MONDO:equivalentTo", source="DOID:8991"}
xref: SCTID:145597000 {source="DOID:8991"}
xref: SCTID:154637008 {source="DOID:8991"}
xref: SCTID:168405008 {source="DOID:8991"}
xref: SCTID:189339007 {source="DOID:8991"}
xref: SCTID:20365006 {source="DOID:8991"}
xref: SCTID:22725004 {source="DOID:8991"}
xref: SCTID:252990005 {source="DOID:8991"}
xref: SCTID:252991009 {source="DOID:8991"}
xref: SCTID:254889004 {source="MONDO:equivalentTo", source="DOID:8991"}
xref: SCTID:269491003 {source="DOID:8991"}
xref: SCTID:269649008 {source="DOID:8991"}
xref: SCTID:92564006 {source="DOID:8991"}
xref: UMLS:C0851140 {source="MEDGEN:163094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004647 {source="DOID:8991", source="MESH:D018290", source="NCIT:C4000"} ! in situ carcinoma
intersection_of: MONDO:0004647 ! in situ carcinoma
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0042488
name: Cestode infectious disease
def: "Infections with true tapeworms of the helminth subclass Cestoda." [MESH:D002590]
subset: otar {source="MONDO:OTAR"}
synonym: "Bertielliases" RELATED [MESH:D002590]
synonym: "Bertielliasis" RELATED [MESH:D002590]
synonym: "Cenuriases" RELATED [MESH:D002590]
synonym: "Cenuriasis" RELATED [MESH:D002590]
synonym: "Cestoda caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Cestoda disease or disorder" EXACT []
synonym: "Cestoda infectious disease" EXACT []
synonym: "cestode infection" EXACT [MESH:D002590]
synonym: "cestode infestation" RELATED []
synonym: "Cestodiasis" RELATED []
synonym: "Cestodosis" RELATED []
synonym: "Coenuriases" RELATED [MESH:D002590]
synonym: "Coenuriasis" RELATED [MESH:D002590]
synonym: "Dipylidiases" RELATED [MESH:D002590]
synonym: "Dipylidiasis" RELATED [MESH:D002590]
synonym: "disease due to Cestoda" RELATED []
synonym: "infection, cestode" RELATED [MESH:D002590]
synonym: "infection, tapeworm" RELATED [MESH:D002590]
synonym: "infections, cestode" RELATED [MESH:D002590]
synonym: "infections, tapeworm" RELATED [MESH:D002590]
synonym: "Raillietiniases" RELATED [MESH:D002590]
synonym: "Raillietiniasis" RELATED [MESH:D002590]
synonym: "tapeworm infection" RELATED [MESH:D002590]
synonym: "tapeworm infections" RELATED [MESH:D002590]
xref: ICD9:123.8
xref: ICD9:123.9
xref: MESH:D002590 {source="MONDO:equivalentTo"}
xref: SCTID:86133004 {source="MONDO:equivalentTo"}
is_a: MONDO:0004664 {source="MESH:D002590"} ! helminthiasis
is_a: MONDO:0005135 {source="EFO:1001287", source="MESH:D002590/inferred"} ! parasitic infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6199 ! Cestoda

[Term]
id: MONDO:0042489
name: disease susceptibility
def: "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." [MESH:D004198]
subset: predisposition
synonym: "diatheses" RELATED [MESH:D004198]
synonym: "diathesis" RELATED [MESH:D004198]
synonym: "disease susceptibilities" RELATED [MESH:D004198]
synonym: "susceptibilities, disease" RELATED [MESH:D004198]
synonym: "susceptibility, disease" RELATED [MESH:D004198]
xref: MEDGEN:41610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004198 {source="MONDO:equivalentTo"}
xref: UMLS:C0012655 {source="MEDGEN:41610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: BFO:0000016 ! disposition

[Term]
id: MONDO:0042490
name: neutropenia, severe congenital, 1, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neutropenia, severe congenital 1, autosomal dominant" EXACT [OMIM:202700, OMIM:genemap2]
synonym: "neutropenia, severe congenital, 1, autosomal dominant" EXACT [MESH:C565969]
synonym: "SCN1" RELATED ABBREVIATION [MESH:C565969, OMIM:202700]
xref: DOID:0080625 {source="MONDO:equivalentTo"}
xref: MEDGEN:348506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565969 {source="MONDO:equivalentTo"}
xref: OMIM:202700 {source="MONDO:equivalentTo", source="MEDIC:C565969"}
xref: Orphanet:486 {source="OMIM:202700"}
xref: UMLS:C1859966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348506"}
is_a: MONDO:0001475 {source="MESH:C565969", source="MONDO:indirect"} ! neutropenia
is_a: MONDO:0008742 ! autosomal dominant severe congenital neutropenia
is_a: MONDO:0018542 {source="OMIM:202700"} ! severe congenital neutropenia
intersection_of: MONDO:0018542 ! severe congenital neutropenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3309 ! ELANE
relationship: has_characteristic HP:0000006 {source="Orphanet:486"} ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3309 ! ELANE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0042491
name: cervical squamous intraepithelial neoplasia
def: "A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures." [NCIT:C7346]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cervical sil" EXACT [NCIT:C7346]
synonym: "cervical squamous intraepithelial lesion" EXACT [NCIT:C7346]
synonym: "cervical squamous intraepithelial neoplasia" EXACT [NCIT:C7346]
synonym: "cervix squamous intraepithelial lesion" EXACT [NCIT:C7346]
synonym: "cervix uteri sil" EXACT [NCIT:C7346]
synonym: "cervix uteri squamous intraepithelial lesion" EXACT [NCIT:C7346]
synonym: "CIN" EXACT ABBREVIATION [NCIT:C7346]
synonym: "squamous intraepithelial lesion of cervix" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of cervix uteri" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of the cervix" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of the cervix uteri" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of the uterine cervix" EXACT [NCIT:C7346]
synonym: "squamous intraepithelial lesion of uterine cervix" EXACT [NCIT:C7346]
synonym: "uterine cervix sil" EXACT [NCIT:C7346]
synonym: "uterine cervix squamous intraepithelial lesion" EXACT [NCIT:C7346]
xref: MEDGEN:234116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065310 {source="MONDO:equivalentTo"}
xref: NCIT:C7346 {source="MONDO:equivalentTo"}
xref: UMLS:C1332922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234116"}
is_a: MONDO:0022394 {source="NCIT:C7346", source="https://orcid.org/0000-0001-5208-3432"} ! cervical intraepithelial neoplasia
is_a: MONDO:0024475 {source="MONDO:Redundant", source="NCIT:C7346"} ! squamous cell intraepithelial neoplasia
intersection_of: MONDO:0024475 ! squamous cell intraepithelial neoplasia
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix
relationship: excluded_subClassOf MONDO:0006736 {source="MESH:D065310", source="https://orcid.org/0000-0001-5208-3432"} ! dysplasia of cervix

[Term]
id: MONDO:0042493
name: gastric non-hodgkin lymphoma
def: "An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." [NCIT:C27235]
subset: gard_rare {source="GARD:89", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "gastric non-Hodgkin lymphoma" EXACT [NCIT:C27235]
synonym: "gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235]
synonym: "lymphoma, gastric non Hodgkins type" RELATED [GARD:0000089]
synonym: "non-Hodgkin lymphoma of stomach" EXACT [MONDO:design_pattern]
synonym: "non-Hodgkin's lymphoma of stomach" EXACT [NCIT:C27235]
synonym: "non-Hodgkin's lymphoma of the stomach" EXACT [NCIT:C27235]
synonym: "non-Hodgkins gastric lymphoma" RELATED [GARD:0000089]
synonym: "primary gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235]
synonym: "stomach lymphoma, non-Hodgkins type" RELATED [GARD:0000089]
synonym: "stomach non-Hodgkin lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: GARD:89 {source="MONDO:GARD"}
xref: MEDGEN:232549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27235 {source="MONDO:equivalentTo"}
xref: SCTID:448709005 {source="MONDO:equivalentTo"}
xref: UMLS:C1333784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232549"}
is_a: MONDO:0001059 {source="MONDO:Redundant", source="NCIT:C27235"} ! gastric lymphoma
intersection_of: MONDO:0018908 ! non-Hodgkin lymphoma
intersection_of: disease_has_location UBERON:0000945 ! stomach

[Term]
id: MONDO:0042494
name: childhood malignant melanoma
def: "A melanoma that occurs during childhood." [NCIT:C131506]
subset: gard_rare {source="GARD:91", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "childhood melanoma" EXACT [NCIT:C131506]
synonym: "childhood melanoma (disease)" EXACT []
synonym: "malignant melanoma, childhood" RELATED [GARD:0000091]
synonym: "melanoma (disease) of childhood" EXACT [MONDO:patterns/childhood]
synonym: "paediatric melanoma (disease)" EXACT OMO:0003005 []
synonym: "pediatric melanoma (disease)" EXACT [MONDO:patterns/childhood]
xref: GARD:91 {source="MONDO:GARD"}
xref: MEDGEN:1374316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131506 {source="MONDO:equivalentTo"}
xref: UMLS:C4329660 {source="MEDGEN:1374316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005105 {source="MONDO:Redundant", source="NCIT:C131506"} ! melanoma
is_a: MONDO:0006517 {source="NCIT:C131506"} ! childhood malignant neoplasm
intersection_of: MONDO:0005105 ! melanoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: has_characteristic MONDO:0021136 {source="MONDO:0036491"} ! rare

[Term]
id: MONDO:0042495
name: arteriosclerotic retinopathy
def: "A arteriosclerosis disorder that involves the retina." [MONDO:patterns/location]
synonym: "arteriosclerosis disorder of retina" EXACT [MONDO:design_pattern]
synonym: "arteriosclerosis, retina" RELATED [GARD:0000113]
synonym: "arteriosclerotic retinopathy" EXACT []
synonym: "retina arteriosclerosis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "retinal arteriosclerosis" RELATED []
synonym: "retinopathy, arteriosclerotic" RELATED [GARD:0000113]
xref: ICD9:440.8
xref: MEDGEN:573178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95691008 {source="MONDO:equivalentTo"}
xref: UMLS:C0339478 {source="MONDO:equivalentTo", source="MEDGEN:573178", source="MONDO:MEDGEN"}
is_a: MONDO:0002277 {source="MONDO:Redundant"} ! arteriosclerosis disorder
is_a: MONDO:0002311 ! retinal vascular disorder
intersection_of: MONDO:0002277 ! arteriosclerosis disorder
intersection_of: disease_has_location UBERON:0000966 ! retina
relationship: disease_has_location UBERON:0001980 ! arteriole
relationship: disease_has_location UBERON:0004864 ! vasculature of retina

[Term]
id: MONDO:0042496
name: ergotism
def: "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." [MESH:D004881]
synonym: "ergot poisoning" RELATED [MESH:D004881]
synonym: "ergot poisonings" RELATED [MESH:D004881]
synonym: "ergotism" EXACT [GARD:0000196]
synonym: "ergotisms" RELATED [MESH:D004881]
synonym: "fire, St. Anthonys" RELATED [MESH:D004881]
synonym: "poisoning, ergot" RELATED [MESH:D004881]
synonym: "poisonings, ergot" RELATED [MESH:D004881]
synonym: "Saint Anthony fire" RELATED [MESH:D004881]
synonym: "Saint Anthony's fire" RELATED [MESH:D004881]
synonym: "Saint Anthonys fire" RELATED [MESH:D004881]
synonym: "St Anthony's fire" RELATED [GARD:0000196]
synonym: "St. Anthony fire" RELATED [MESH:D004881]
synonym: "St. Anthony's fire" RELATED [MESH:D004881]
synonym: "St. Anthonys fire" RELATED [MESH:D004881]
xref: ICD9:988.2
xref: MESH:D004881 {source="MONDO:equivalentTo"}
xref: SCTID:51510002 {source="MONDO:equivalentTo"}
is_a: MONDO:0042497 {source="MESH:D004881"} ! mycotoxicosis

[Term]
id: MONDO:0042497
name: mycotoxicosis
def: "Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin)." [MESH:D015651]
synonym: "Fungi caused poisoning" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Fungi poisoning" EXACT []
synonym: "fungus poisoning" RELATED [MESH:D015651]
synonym: "fungus Poisonings" RELATED [MESH:D015651]
synonym: "Mycotoxicoses" RELATED [MESH:D015651]
synonym: "poisoning, fungus" RELATED [MESH:D015651]
synonym: "Poisonings, fungus" RELATED [MESH:D015651]
xref: MESH:D015651 {source="MONDO:equivalentTo"}
xref: SCTID:26033009 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D015651", source="MONDO:Redundant"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi

[Term]
id: MONDO:0042498
name: Ruzicka-Goerz-Anton syndrome
synonym: "ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma" RELATED [GARD:0000210]
synonym: "ichthyosis deafness intellectual disability skeletal anomalies" RELATED [GARD:0000210, MESH:C537192]
synonym: "ichthyosis deafness mental retardation skeletal anomalies" RELATED DEPRECATED [GARD:0000210, MESH:C537192]
synonym: "Ruzicka Goerz Anton syndrome" EXACT [GARD:0000210]
xref: MEDGEN:444055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537192 {source="MONDO:equivalentTo"}
xref: UMLS:C2931438 {source="MEDGEN:444055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537192", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
relationship: excluded_subClassOf MONDO:0019269 {source="MESH:C537192", source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis

[Term]
id: MONDO:0042499
name: benign familial neonatal-infantile seizures 1
subset: gard_rare {source="GARD:856", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "benign familial infantile convulsions syndrome" RELATED [GARD:0000856]
synonym: "benign familial infantile convulsions syndrome 1" RELATED []
synonym: "benign infantile familial convulsions" RELATED [GARD:0000856]
synonym: "benign infantile familial convulsions 1" RELATED []
synonym: "BFIC1" RELATED ABBREVIATION [GARD:0000856]
synonym: "BFIS1" RELATED ABBREVIATION [GARD:0000856, OMIM:601764]
synonym: "convulsions, benign familial infantile, 1" RELATED [OMIM:601764]
synonym: "seizures, benign familial infantile, 1" RELATED [GARD:0000856, OMIM:601764]
xref: DOID:0081114 {source="MONDO:equivalentTo"}
xref: GARD:856 {source="MONDO:GARD"}
xref: MEDGEN:1638448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601764 {source="MONDO:equivalentTo", source="GARD:0000856"}
xref: Orphanet:306 {source="OMIM:601764", source="GARD:0000856"}
xref: UMLS:C4551769 {source="MEDGEN:1638448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017615 {source="OMIM:601764"} ! benign familial infantile epilepsy
relationship: excluded_subClassOf MONDO:0011140 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete benign familial neonatal-infantile seizures

[Term]
id: MONDO:0042600
name: Sammartino-Decreccio syndrome
synonym: "Sammartino Decreccio syndrome" RELATED [GARD:0000150]
synonym: "superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality" RELATED [GARD:0000150]
xref: MEDGEN:419806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2931447 {source="MEDGEN:419806", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042601
name: Samson-Gardner syndrome
synonym: "craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia" RELATED [GARD:0000151]
synonym: "Samson Gardner syndrome" RELATED [GARD:0000151]
xref: MEDGEN:419807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537230 {source="MONDO:equivalentTo"}
xref: UMLS:C2931448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419807"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042602
name: Samson-Viljoen syndrome
synonym: "lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia" RELATED [GARD:0000152]
synonym: "Samson Viljoen syndrome" RELATED [GARD:0000152]
xref: MEDGEN:419808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537231 {source="MONDO:equivalentTo"}
xref: UMLS:C2931449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419808"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042603
name: Sanderson-Fraser syndrome
synonym: "proptosis, Robin association, clenched hands, and multiple abnormalities" RELATED [GARD:0000153]
synonym: "Sanderson Fraser syndrome" RELATED [GARD:0000153]
xref: MEDGEN:419081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537232 {source="MONDO:equivalentTo"}
xref: UMLS:C2931450 {source="MEDGEN:419081", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042604
name: Sandhaus-Ben-Ami syndrome
synonym: "patella hypoplasia skeletal malformations" RELATED [GARD:0000154]
synonym: "Sandhaus Ben-Ami syndrome" RELATED [GARD:0000154]
xref: MEDGEN:444058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537233 {source="MONDO:equivalentTo"}
xref: UMLS:C2931451 {source="MEDGEN:444058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042605
name: Y chromosome infertility due to DAZ1 deletion
synonym: "DAZ" RELATED ABBREVIATION [GARD:0000185]
synonym: "deleted in azoospermia" RELATED [GARD:0000185]
synonym: "male sterility due to Y-chromosome deletions" RELATED [GARD:0000185]
synonym: "Y chromosome infertility" RELATED [GARD:0000185]
synonym: "Y chromosome microdeletions" RELATED [GARD:0000185]
xref: HGNC:2682 {source="MONDO:otherHierarchy", source="GARD:0000185"}
is_a: MONDO:0005372 {source="https://orcid.org/0000-0001-5208-3432"} ! male infertility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2682 ! DAZ1

[Term]
id: MONDO:0042705
name: prostatic malacoplakia associated with prostatic abscess
synonym: "prostatic malacoplakia with prostatic and seminal vesicle abscess" RELATED [GARD:0000149]
xref: MEDGEN:419811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537244 {source="MONDO:equivalentTo"}
xref: UMLS:C2931457 {source="MEDGEN:419811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042717
name: Saul-Wilkes-Stevenson syndrome
synonym: "Saul Wilkes Stevenson syndrome" RELATED [GARD:0000161]
xref: MEDGEN:419372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536617 {source="MONDO:equivalentTo"}
xref: UMLS:C2931266 {source="MEDGEN:419372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042724
name: macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0016571 macrocephaly-short stature-paraplegia syndrome
subset: obsoletion_candidate
synonym: "Volcke Soekarman syndrome" RELATED [GARD:0000172]
is_a: MONDO:0002254 ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7546" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0042726
name: macrogyria, pseudobulbar palsy and intellectual disability
synonym: "Kuzniecky Andermann syndrome" RELATED [GARD:0000174]
xref: MEDGEN:419450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537722 {source="MONDO:equivalentTo"}
xref: UMLS:C2931598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419450"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042727
name: sacrococcygeal teratoma
def: "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns." [NCIT:C99055]
subset: gard_rare {source="GARD:319", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1685"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:494421"}
subset: rare
synonym: "pre-sacral teratoma" EXACT [NCIT:C99055]
synonym: "presacral teratoma" EXACT [NCIT:C99055]
synonym: "sacrococcygeal teratoma" EXACT [NCIT:C99055]
xref: GARD:319 {source="MONDO:GARD"}
xref: HP:0030736 {source="MONDO:otherHierarchy"}
xref: MEDGEN:107852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100216 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200816 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201287 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99055 {source="MONDO:equivalentTo"}
xref: NORD:1685 {source="MONDO:NORD"}
xref: Orphanet:494421 {source="MONDO:equivalentTo"}
xref: SCTID:281561000 {source="MONDO:equivalentTo", source="UMLS:C0559459"}
xref: UMLS:C0559459 {source="MEDGEN:107852", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002601 {source="MONDO:Redundant", source="NCIT:C99055"} ! teratoma
intersection_of: MONDO:0002601 ! teratoma
intersection_of: disease_has_location UBERON:0001350 ! coccyx

[Term]
id: MONDO:0042902
name: obsolete Say-Carpenter syndrome
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7192" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0042908
name: obsolete Schaap-Taylor-Baraitser syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4324" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015325

[Term]
id: MONDO:0042911
name: Schwartz-Cohen-addad-Lambert syndrome
synonym: "congenital melanocytosis with myelomeningocele and hydrocephalus" RELATED [GARD:0000253]
synonym: "Schwartz Cohen-Addad Lambert syndrome" RELATED [GARD:0000253]
xref: MEDGEN:443962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535835 {source="MONDO:equivalentTo"}
xref: UMLS:C2931036 {source="MEDGEN:443962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042912
name: Schlegelberger-Grote syndrome
synonym: "Schlegelberger Grote syndrome" RELATED [GARD:0000255]
synonym: "syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear" RELATED [GARD:0000255]
synonym: "triphalangeal thumbs thrombocytopathy deafness" RELATED [GARD:0000255]
xref: MEDGEN:419761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536635 {source="MONDO:equivalentTo"}
xref: UMLS:C2931273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419761"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042913
name: Schrander-stumpel-Theunissen-Hulsmans syndrome
synonym: "Schrander-Stumpel Theunissen Hulsmans syndrome" RELATED [GARD:0000256]
synonym: "vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism" RELATED [GARD:0000256]
synonym: "vitiligo, psychomotor retardation, cleft palate and facial dysmorphism" RELATED [GARD:0000256]
xref: MEDGEN:419033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536639 {source="MONDO:equivalentTo"}
xref: UMLS:C2931275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419033"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042915
name: obsolete Schmitt-Gillenwater-Kelly syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5204" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0008357

[Term]
id: MONDO:0042924
name: obsolete Vagneur-Triolle-Ripert syndrome
synonym: "hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age" RELATED [GARD:0000271]
synonym: "Vagneur Triolle Ripert syndrome" RELATED [GARD:0000271]
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7191" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0042956
name: Saal-Bulas syndrome
synonym: "ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum" RELATED [GARD:0000311]
synonym: "Saal Bulas syndrome" RELATED [GARD:0000311]
xref: MEDGEN:419079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537193 {source="MONDO:equivalentTo"}
xref: UMLS:C2931439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419079"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042960
name: Sackey-Sakati-Aur syndrome
synonym: "Aur syndrome" RELATED [GARD:0000315]
synonym: "multiple dysmorphic features and pancytopenia" RELATED [GARD:0000315]
synonym: "pancytopenia multiple congenital anomalies" RELATED [GARD:0000315]
synonym: "Sackey Sakati Aur syndrome" RELATED [GARD:0000315]
xref: MEDGEN:444056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537219 {source="MONDO:equivalentTo"}
xref: UMLS:C2931442 {source="MEDGEN:444056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0042961
name: sacral hemangiomas multiple congenital abnormalities
subset: gard_rare {source="GARD:317", source="MONDO:GARD"}
subset: rare
xref: GARD:317 {source="MONDO:GARD"}
xref: MEDGEN:419414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537222 {source="MONDO:equivalentTo"}
xref: UMLS:C2931443 {source="MEDGEN:419414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016063 {source="MESH:C537222"} ! Cowden disease

[Term]
id: MONDO:0042962
name: Slti-Salem syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypogonadism and frontoparietal alopecia" RELATED [GARD:0000324, MESH:C536673]
synonym: "hypogonadotropic hypogonadism alopecia" RELATED [GARD:0000324, MESH:C536673]
synonym: "Slti Salem syndrome" RELATED [GARD:0000324]
xref: MEDGEN:419036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536673 {source="UMLS:C2931284", source="MONDO:equivalentTo"}
xref: UMLS:C2931284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419036"}
is_a: MONDO:0002146 {source="MESH:C536673"} ! hypogonadism
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0004907 {source="MESH:C536673"} ! alopecia

[Term]
id: MONDO:0042963
name: wandering spleen
def: "A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly." [NCIT:C85224]
subset: gard_rare {source="GARD:328", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1836", source="MONDO:NORD"}
subset: rare
synonym: "displaced spleen" RELATED [MESH:D050805]
synonym: "displaced spleens" RELATED [MESH:D050805]
synonym: "drifting spleen" RELATED [MESH:D050805]
synonym: "drifting spleens" RELATED [MESH:D050805]
synonym: "floating spleen" RELATED [MESH:D050805]
synonym: "floating spleens" RELATED [MESH:D050805]
synonym: "Ptoses, splenic" RELATED [MESH:D050805]
synonym: "ptosis, splenic" RELATED [MESH:D050805]
synonym: "spleen, displaced" RELATED [MESH:D050805]
synonym: "spleen, drifting" RELATED [MESH:D050805]
synonym: "spleen, floating" RELATED [MESH:D050805]
synonym: "spleen, wandering" RELATED [MESH:D050805]
synonym: "spleens, displaced" RELATED [MESH:D050805]
synonym: "spleens, drifting" RELATED [MESH:D050805]
synonym: "spleens, floating" RELATED [MESH:D050805]
synonym: "spleens, wandering" RELATED [MESH:D050805]
synonym: "splenic Ptoses" RELATED [MESH:D050805]
synonym: "splenic ptosis" RELATED [MESH:D050805]
synonym: "Splenoptoses" RELATED [MESH:D050805]
synonym: "splenoptosis" RELATED [MESH:D050805]
synonym: "wandering spleen" EXACT [NCIT:C85224]
synonym: "wandering spleens" RELATED [MESH:D050805]
xref: GARD:328 {source="MONDO:GARD"}
xref: MEDGEN:75782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050805 {source="MONDO:equivalentTo"}
xref: NCIT:C85224 {source="MONDO:equivalentTo"}
xref: NORD:1836 {source="MONDO:NORD"}
xref: SCTID:191384005 {source="MONDO:equivalentTo"}
xref: UMLS:C0272414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75782"}
is_a: MONDO:0002332 {source="MESH:D050805"} ! splenic disorder

[Term]
id: MONDO:0042964
name: Machado-Joseph disease type 4
def: "A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment." [Wikipedia:Machado–Joseph_disease]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "azorean disease, type iv" EXACT []
xref: ICD9:334.3
xref: MEDGEN:673233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:91956006 {source="MONDO:equivalentTo"}
xref: UMLS:C0686352 {source="MEDGEN:673233", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007182 {source="Wikipedia:Machado–Joseph_disease"} ! Machado-Joseph disease

[Term]
id: MONDO:0042965
name: Machado-Joseph disease type 5
def: "A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia." [Wikipedia:Machado–Joseph_disease]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: Machado-Joseph disease-MONDO:0007182
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "azorean disease, type V" EXACT []
xref: ICD9:334.3
is_a: MONDO:0007182 {source="Wikipedia:Machado–Joseph_disease"} ! Machado-Joseph disease
relationship: disease_shares_features_of MONDO:0019064 ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7659" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0042966
name: inherited mitral valve disease
def: "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "congenital anomaly of mitral valve" EXACT []
synonym: "congenital malformation of mitral valve" RELATED []
synonym: "congenital mitral valve abnormality" RELATED []
synonym: "hereditary mitral valve disease" EXACT [MONDO:patterns/hereditary]
xref: MEDGEN:539532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:75372006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539532"}
is_a: MONDO:0003767 {source="MONDO:Redundant"} ! mitral valve disorder
intersection_of: MONDO:0003767 ! mitral valve disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0042967
name: rheumatic disease of mitral valve
def: "A rheumatologic disorder that involves the mitral valve." [MONDO:patterns/location]
synonym: "mitral valve rheumatologic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "rheumatic disease of mitral valve" EXACT []
synonym: "rheumatic mitral valve changes" RELATED []
synonym: "rheumatic mitral valve disease" RELATED []
synonym: "rheumatologic disorder of mitral valve" EXACT [MONDO:design_pattern]
xref: MEDGEN:538824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:83898004 {source="MONDO:equivalentTo"}
xref: UMLS:C0264765 {source="MEDGEN:538824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003767 {source="MONDO:Redundant"} ! mitral valve disorder
intersection_of: MONDO:0005554 ! rheumatic disorder
intersection_of: disease_has_location UBERON:0002135 ! mitral valve

[Term]
id: MONDO:0042968
name: partial duplication of chromosome 12
subset: gard_rare {source="MONDO:GARD"}
subset: rare
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr12 ! chromosome 12 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0042969
name: partial duplication of the long arm of chromosome 12
def: "Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." [GARD:0001926]
subset: gard_rare {source="GARD:1926", source="MONDO:GARD"}
subset: rare
synonym: "12q duplication" RELATED [GARD:0001926]
synonym: "12q trisomy" RELATED [GARD:0001926]
synonym: "chromosome 12q duplication" RELATED [GARD:0001926]
synonym: "Duplication 12q" RELATED [GARD:0001926]
synonym: "partial trisomy 12q" RELATED [GARD:0001926]
synonym: "trisomy 12q" RELATED [GARD:0001926]
xref: GARD:1926 {source="MONDO:GARD"}
xref: MEDGEN:208641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538300 {source="MONDO:equivalentTo"}
xref: UMLS:C0795846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208641"}
is_a: MONDO:0042968 ! partial duplication of chromosome 12
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr12q ! 12q (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3492" xsd:anyURI

[Term]
id: MONDO:0042970
name: disorder of glutamate decarboxylase
def: "A disease that has its basis in the disruption of glutamate decarboxylase activity." [MONDO:design_pattern]
synonym: "deficiency of glutamate decarboxylase" EXACT [GTR:AN0168165]
synonym: "disorder of glutamate decarboxylase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "glutamate decarboxylase activity disease" EXACT [MONDO:design_pattern]
synonym: "glutamate decarboxylase deficiency" RELATED [GTR:AN0264281]
xref: GTR:AN0168165 {source="UMLS:C1291560"}
xref: GTR:AN0264281 {source="UMLS:C1291560"}
xref: ICD9:277.6
xref: MEDGEN:452941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:124596009 {source="MONDO:equivalentTo", source="UMLS:C1291560"}
xref: UMLS:C1291560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452941"}
is_a: MONDO:0005066 {source="GARD:0002505", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0004351 ! glutamate decarboxylase activity

[Term]
id: MONDO:0042971
name: congenital herpes virus infection
def: "An infectious embryofetopathy caused by infection with Herpesviridae." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital herpes virus infection" EXACT []
synonym: "congenital infection caused by herpes virus" EXACT []
synonym: "Herpesviridae caused infectious embryofetopathy" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Herpesviridae infectious embryofetopathy" EXACT []
xref: MEDGEN:908142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:715337002 {source="MONDO:equivalentTo"}
xref: UMLS:C4275250 {source="MEDGEN:908142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0016511 ! infectious embryofetopathy
intersection_of: MONDO:0100332 NCBITaxon:10292 ! disease has primary infectious agent Herpesviridae

[Term]
id: MONDO:0042972
name: meningococcemia
synonym: "meningococcal septicemia" RELATED []
synonym: "meningococcemia" EXACT []
xref: ICD9:036.2
xref: MEDGEN:6300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:4089001 {source="MONDO:equivalentTo", source="UMLS:C0025306"}
xref: UMLS:C0025306 {source="MEDGEN:6300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005373 ! meningococcal infection
intersection_of: disease_has_feature HP:0100806 ! Sepsis

[Term]
id: MONDO:0042973
name: familial osteosclerosis
def: "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "hereditary osteosclerosis" EXACT [MONDO:patterns/hereditary]
intersection_of: MONDO:0002933 ! osteosclerosis
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0042974
name: parainfluenza virus type 3 infectious disease
def: "Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections." [GARD:0004215]
subset: gard_rare {source="GARD:4215", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "human parainfluenza virus type 3" RELATED [GARD:0004215]
synonym: "human respirovirus 3 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "human respirovirus 3 disease or disorder" EXACT []
synonym: "human respirovirus 3 infectious disease" EXACT []
synonym: "infection caused by human parainfluenza virus 3" RELATED [https://orcid.org/0000-0002-8169-9049, OMOP:4147524, SCTID:30270006]
synonym: "infection caused by parainfluenza virus 3" RELATED [https://orcid.org/0000-0002-8169-9049, OMOP:4147524, SCTID:30270006]
synonym: "infection due to human parainfluenza virus 3" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4147524, SCTID:30270006]
synonym: "infection due to parainfluenza virus 3" RELATED [https://orcid.org/0000-0002-8169-9049, OMOP:4147524, SCTID:30270006]
synonym: "PIV3" RELATED ABBREVIATION [GARD:0004215]
xref: GARD:4215 {source="MONDO:GARD"}
xref: ICD9:079.89
xref: MEDGEN:547264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:30270006 {source="MONDO:equivalentTo"}
xref: UMLS:C0276324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547264"}
is_a: MONDO:0100197 {source="https://github.com/monarch-initiative/mondo/issues/2063"} ! parainfluenza infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11216 ! disease has primary infectious agent Human respirovirus 3

[Term]
id: MONDO:0042975
name: pseudoachondroplastic dysplasia 2
subset: gard_rare {source="GARD:4542", source="MONDO:GARD"}
subset: rare
synonym: "pseudoachondroplastic dysplasia 2" EXACT [MESH:C535820]
synonym: "recessive pseudoachondroplasia" RELATED [GARD:0004542, MESH:C535820]
synonym: "spondyloepiphyseal dysplasia pseudoachondroplastic 2" RELATED [GARD:0004542, MESH:C535820]
xref: GARD:4542 {source="MONDO:GARD"}
xref: MEDGEN:418965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535820 {source="MONDO:equivalentTo", source="UMLS:C2931030"}
xref: OMIM:264150 {source="GARD:0004542", source="MONDO:equivalentObsolete"}
xref: UMLS:C2931030 {source="MEDGEN:418965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007037 {source="MESH:C535820"} ! Achondroplasia

[Term]
id: MONDO:0042976
name: vitamin B deficiency
def: "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat." [MESH:D014804]
subset: otar {source="MONDO:OTAR"}
synonym: "deficiencies, vitamin B" RELATED [MESH:D014804]
synonym: "deficiency, vitamin B" RELATED [MESH:D014804]
synonym: "vitamin B deficiencies" RELATED [MESH:D014804]
xref: MEDGEN:22669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014804 {source="MONDO:equivalentTo"}
xref: NCIT:C35129 {source="MONDO:equivalentTo"}
xref: SCTID:47903000 {source="MONDO:equivalentTo"}
xref: UMLS:C0042850 {source="MEDGEN:22669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024298 {source="MESH:D014804", source="NCIT:C35129"} ! vitamin deficiency disorder

[Term]
id: MONDO:0042977
name: trichoepithelioma, multiple familial, 1
subset: gard_rare {source="GARD:5262", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606]
synonym: "epithelioma adenoides cysticum of Brooke" RELATED [OMIM:601606]
synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606]
synonym: "MFT1" RELATED ABBREVIATION [GARD:0005262, OMIM:601606]
synonym: "multiple familial trichoepithelioma 1" RELATED [GARD:0005262]
synonym: "trichoepithelioma multiple familial 1" RELATED [GARD:0005262]
synonym: "trichoepithelioma, multiple familial, 1" EXACT [OMIM:601606]
xref: GARD:5262 {source="MONDO:GARD"}
xref: OMIM:601606 {source="MONDO:equivalentTo", source="GARD:0005262"}
xref: Orphanet:79493 {source="OMIM:601606"}
xref: Orphanet:867 {source="OMIM:601606"}
is_a: MONDO:0011114 ! familial multiple trichoepithelioma
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:601606"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0042979
name: hypokalemic periodic paralysis, type 1
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HOKPP1" RELATED ABBREVIATION [OMIM:170400]
synonym: "hypokalemic periodic paralysis, type 1" EXACT [OMIM:170400]
xref: MEDGEN:811387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:170400 {source="MONDO:equivalentTo"}
xref: Orphanet:681 {source="OMIM:170400"}
xref: UMLS:C3714580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811387"}
is_a: MONDO:0008223 {source="OMIM:170400"} ! hypokalemic periodic paralysis

[Term]
id: MONDO:0042980
name: Westphal disease
subset: gard_rare {source="GARD:5557", source="MONDO:GARD"}
subset: rare
synonym: "HD- Westphal variant" RELATED [GARD:0005557, GTR:AN0099344]
synonym: "Westphal disease" EXACT [GTR:AN0099343, MESH:C536694]
synonym: "Westphal variant of Huntington's disease" RELATED [GARD:0005557, GTR:AN0099345, MESH:C536694]
xref: GARD:5557 {source="MONDO:GARD"}
xref: GTR:AN0099343 {source="UMLS:C1279186"}
xref: GTR:AN0099344 {source="UMLS:C1279186"}
xref: GTR:AN0099345 {source="UMLS:C1279186"}
xref: MEDGEN:224821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536694 {source="UMLS:C1279186", source="MONDO:equivalentTo"}
xref: SCTID:182747006 {source="UMLS:C1279186", source="MONDO:equivalentTo"}
xref: UMLS:C1279186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224821"}
is_a: MONDO:0007739 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! Huntington disease
relationship: disease_shares_features_of MONDO:0007739 ! Huntington disease
relationship: excluded_subClassOf MONDO:0000995 {source="https://orcid.org/0000-0001-5208-3432"} ! familial periodic paralysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI

[Term]
id: MONDO:0042981
name: aortic valve stenosis
def: "Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever." [GARD:0005830]
subset: gard_rare {source="GARD:5830", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "aortic stenosis" EXACT [DOID:1712, GARD:0005830, MONDO:0004978]
synonym: "AS" EXACT ABBREVIATION [DOID:1712]
synonym: "congenital aortic valve stenosis" RELATED EXCLUDE [DOID:1712]
synonym: "rheumatic aortic stenosis" NARROW [DOID:1712, ICD9CM:395.0]
synonym: "rheumatic aortic valve stenosis" NARROW [DOID:1712]
synonym: "stenosed aortic valve" RELATED []
synonym: "valvular aortic stenosis" RELATED [GARD:0005830]
xref: DOID:1712 {source="EFO:0000266", source="MONDO:equivalentTo"}
xref: GARD:5830 {source="MONDO:GARD"}
xref: HP:0001650 {source="MONDO:otherHierarchy"}
xref: ICD10CM:I06.0 {source="DOID:1712", source="MONDO:mondoIsBroaderThanSource"}
xref: ICD10CM:Q23.0 {source="DOID:1712"}
xref: ICD9:395.0 {source="DOID:1712"}
xref: ICD9:746.3 {source="MONDO:relatedTo", source="DOID:1712"}
xref: MEDGEN:1621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001024 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0000266", source="MONDO:equivalentTo", source="DOID:1712"}
xref: NANDO:2200306 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C50462 {source="EFO:0000266", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:1712"}
xref: NCIT:C64938 {source="EFO:0000266", source="MONDO:otherHierarchy"}
xref: Orphanet:402075 {source="DOID:1712"}
xref: SCTID:155282009 {source="DOID:1712"}
xref: SCTID:156922005 {source="DOID:1712"}
xref: SCTID:18546004 {source="MONDO:relatedTo", source="DOID:1712"}
xref: SCTID:390722003 {source="DOID:1712"}
xref: SCTID:420503003 {source="EFO:0000266"}
xref: SCTID:60573004 {source="EFO:0000266", source="MONDO:equivalentTo", source="DOID:1712"}
xref: SCTID:72011007 {source="DOID:1712", source="MONDO:mondoIsBroaderThanSource"}
xref: UMLS:C0003507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621"}
is_a: MONDO:0003803 {source="DOID:1712"} ! aortic valve disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: disease_has_feature HP:0001650 ! Aortic valve stenosis
relationship: disease_has_location UBERON:0000947 {source="EFO:0000784"} ! aorta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4636" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0042982
name: GATA2 deficiency with susceptibility to MDS/AML
def: "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])." [https://github.com/monarch-initiative/mondo/issues/261, PMID:25397911, PMID:25619630, PMID:25624456, PMID:28637621]
comment: The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
subset: predisposition
synonym: "GATA2 deficiency" EXACT [GARD:0013373, NCIT:C126349]
synonym: "GATA2 deficiency with susceptibility to MDS/AML" EXACT CLINGEN_LABEL []
synonym: "GATA2 deficiency/MonoMac syndrome" NARROW [NCIT:C126349]
xref: NCIT:C126349 {source="MONDO:equivalentTo"}
is_a: MONDO:0005046 ! immune system disorder
is_a: MONDO:0021094 {source="NCIT:C126349"} ! immunodeficiency disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015984"} ! rare

[Term]
id: MONDO:0042983
name: neurocutaneous syndrome
def: "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." [MESH:D020752]
comment: A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category
subset: otar {source="MONDO:OTAR"}
synonym: "neurocutaneous disorder" RELATED [MESH:D020752]
synonym: "neurocutaneous disorders" RELATED [MESH:D020752]
synonym: "neurocutaneous syndrome" EXACT [MESH:D020752]
synonym: "neuroectodermal dysplasia" RELATED []
synonym: "neuroectodermal dysplasia syndrome" RELATED [MESH:D020752]
synonym: "neuroectodermal dysplasia syndromes" RELATED [MESH:D020752]
synonym: "Phacomatoses" RELATED [MESH:D020752]
synonym: "Phacomatosis" RELATED [MESH:D020752]
synonym: "Phakomatoses" RELATED [MESH:D020752]
synonym: "phakomatosis" RELATED [MESH:D020752]
synonym: "syndrome, neurocutaneous" RELATED [MESH:D020752]
synonym: "syndrome, neuroectodermal dysplasia" RELATED [MESH:D020752]
synonym: "syndromes, neurocutaneous" RELATED [MESH:D020752]
synonym: "syndromes, neuroectodermal dysplasia" RELATED [MESH:D020752]
xref: MEDGEN:82706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020752 {source="MONDO:equivalentTo"}
xref: NANDO:2100220 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C84348 {source="MONDO:equivalentTo"}
xref: SCTID:78572006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82706"}
is_a: MONDO:0005071 {source="MESH:D020752"} ! nervous system disorder
relationship: disease_arises_from_structure UBERON:0000924 ! ectoderm
relationship: excluded_subClassOf MONDO:0019287 {source="MESH:D020752", source="https://orcid.org/0000-0001-5208-3432"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0043003
name: familial acanthosis nigricans
def: "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: otar {source="MONDO:OTAR"}
synonym: "acanthosis nigricans" RELATED [OMIM:100600]
synonym: "hereditary acanthosis nigricans (disease)" EXACT [MONDO:patterns/hereditary]
xref: MEDGEN:419638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531598 {source="MONDO:equivalentTo"}
xref: OMIM:100600 {source="MONDO:equivalentTo", source="DOID:3138"}
xref: UMLS:C2930792 {source="MEDGEN:419638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007035 {source="MESH:C531598", source="MONDO:Redundant"} ! acanthosis nigricans
intersection_of: MONDO:0007035 ! acanthosis nigricans
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0043004
name: Weil's disease
def: "A jauncice caused by severe leptospirosis." [Wikipedia:Leptospirosis]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disease, Weil" RELATED [MESH:D014895]
synonym: "disease, Weil's" RELATED [MESH:D014895]
synonym: "icteric leptospirosis" RELATED []
synonym: "Icterohemorrhagic leptospirosis" RELATED [MESH:D014895]
synonym: "jaundice, spirochetal" RELATED [MESH:D014895]
synonym: "leptospirosis, icterohemorrhagic" RELATED [MESH:D014895]
synonym: "spirochetal jaundice" RELATED [MESH:D014895]
synonym: "Weil disease" RELATED []
synonym: "Weil's disease" EXACT [MESH:D014895]
synonym: "Weils disease" RELATED [MESH:D014895]
xref: MEDGEN:21912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014895 {source="MONDO:equivalentTo"}
xref: SCTID:398067003 {source="MONDO:equivalentTo"}
xref: UMLS:C0043102 {source="MEDGEN:21912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005825 {source="MESH:D014895", source="MONDO:Redundant"} ! leptospirosis
intersection_of: MONDO:0005825 ! leptospirosis
intersection_of: disease_has_feature HP:0000952 ! Jaundice

[Term]
id: MONDO:0043005
name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome
def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:183533"}
synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary]
xref: GARD:20291 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183533 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0021147

[Term]
id: MONDO:0043007
name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
synonym: "genetic MCA/variable MR" EXACT [Orphanet:330197]
synonym: "genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" EXACT [Orphanet:330197]
synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" EXACT [MONDO:patterns/hereditary]
xref: Orphanet:330197 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0021147

[Term]
id: MONDO:0043008
name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_group_of_disorders {source="Orphanet:330206"}
synonym: "genetic MCA" EXACT [Orphanet:330206]
synonym: "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)" EXACT [Orphanet:330206]
synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability" EXACT [MONDO:patterns/hereditary]
xref: GARD:21507 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:330206 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0021147

[Term]
id: MONDO:0043009
name: hereditary lethal multiple congenital anomalies/dysmorphic syndrome
def: "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:21947", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:471383"}
subset: rare
synonym: "genetic lethal multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary]
xref: GARD:21947 {source="MONDO:GARD"}
xref: MEDGEN:1843298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:471383 {source="MONDO:equivalentTo"}
xref: UMLS:C5681265 {source="MEDGEN:1843298", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis

[Term]
id: MONDO:0043069
name: Zerres Rietschel Majewski syndrome
subset: gard_rare {source="GARD:338", source="MONDO:GARD"}
subset: rare
synonym: "postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability" RELATED [GARD:0000338]
synonym: "postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation" RELATED DEPRECATED [GARD:0000338]
xref: GARD:338 {source="MONDO:GARD"}
xref: MEDGEN:419769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536724 {source="MONDO:equivalentTo"}
xref: UMLS:C2931301 {source="MEDGEN:419769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015514 {source="MESH:C536724"} ! hereditary endocrine growth disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536724", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0043071
name: Zazam Sheriff Phillips syndrome
synonym: "aniridia, ectopia lentis, abnormal upper incisors and intellectual disability" RELATED [GARD:0000339, MESH:C536723]
synonym: "aniridia, ectopia lentis, abnormal upper incisors and mental retardation" RELATED DEPRECATED [GARD:0000339, MESH:C536723]
synonym: "aniridia, lens luxation, intellectual disability" RELATED [MESH:C536723]
synonym: "aniridia, lens luxation, mental retardation" RELATED DEPRECATED [MESH:C536723]
xref: MEDGEN:419768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536723 {source="MONDO:equivalentTo"}
xref: UMLS:C2931300 {source="MEDGEN:419768", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019172 {source="MESH:C536723"} ! aniridia
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536723", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0043073
name: Zadik-Barak-Levin syndrome
synonym: "dermoid cysts, hypothyroidism, cleft palate and hypodontia" RELATED [GARD:0000340]
synonym: "dermoid cysts, hypothyroidism, cleft palate, and hypodontia" RELATED [MESH:C536721]
xref: MEDGEN:444023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536721 {source="MONDO:equivalentTo"}
xref: UMLS:C2931298 {source="MEDGEN:444023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_feature MONDO:0002378 {source="MESH:C536721"} ! dermoid cyst
relationship: disease_has_feature MONDO:0005420 {source="MESH:C536721"} ! hypothyroidism
relationship: disease_has_feature MONDO:0008797 {source="MESH:C536721"} ! anodontia
relationship: disease_has_feature MONDO:0016064 {source="MESH:C536721"} ! cleft palate

[Term]
id: MONDO:0043075
name: neuroaxonal dystrophy renal tubular acidosis
subset: gard_rare {source="GARD:349", source="MONDO:GARD"}
subset: rare
synonym: "CNS disorder characterised by severe behavioural retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" RELATED OMO:0003005 []
synonym: "CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" RELATED [GARD:0000349]
synonym: "Maccario Mena weir syndrome" RELATED [GARD:0000349, MESH:C537386]
xref: GARD:349 {source="MONDO:GARD"}
xref: MEDGEN:419816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537386 {source="MONDO:equivalentTo"}
xref: UMLS:C2931479 {source="MONDO:equivalentTo", source="MEDGEN:419816", source="MONDO:MEDGEN"}
is_a: MONDO:0001909 {source="MESH:C537386"} ! renal tubular acidosis
is_a: MONDO:0002283 {source="MESH:C537386"} ! neuroaxonal dystrophy

[Term]
id: MONDO:0043077
name: weinstein kliman scully syndrome
subset: gard_rare {source="GARD:392", source="MONDO:GARD"}
subset: rare
synonym: "cardiomyopathy, hypogonadism and metabolic anomalies" RELATED [MESH:C536688]
synonym: "primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities" RELATED [GARD:0000392]
xref: GARD:392 {source="MONDO:GARD"}
xref: MEDGEN:419765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536688 {source="MONDO:equivalentTo"}
xref: UMLS:C2931289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419765"}
is_a: MONDO:0002146 {source="MESH:C536688"} ! hypogonadism
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0019052 {source="MESH:C536688"} ! inborn errors of metabolism

[Term]
id: MONDO:0043079
name: obsolete acute articular rheumatism
synonym: "acute articular rheumatism" EXACT []
synonym: "acute rheumatic arthritis" EXACT []
synonym: "acute rheumatism" RELATED [GARD:0000518]
xref: SCTID:81077008 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7202" xsd:anyURI
is_obsolete: true
consider: MONDO:0017767

[Term]
id: MONDO:0043083
name: coronal synostosis, syndactyly and jejunal atresia
subset: gard_rare {source="GARD:1532", source="MONDO:GARD"}
subset: rare
synonym: "asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia" RELATED [GARD:0001532]
xref: GARD:1532 {source="MONDO:GARD"}
xref: MEDGEN:419740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536445 {source="MONDO:equivalentTo"}
xref: UMLS:C2931194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419740"}
is_a: MONDO:0001411 {source="MESH:C536445"} ! synostosis

[Term]
id: MONDO:0043085
name: chromosome 1, uniparental disomy 1q12 q21
subset: gard_rare {source="GARD:1878", source="MONDO:GARD"}
subset: rare
synonym: "Mosaic trisomy 1q12 q21" RELATED [GARD:0001878, MESH:C538085]
synonym: "uniparental disomy 1q12 q21" RELATED [GARD:0001878, MESH:C538085]
xref: GARD:1878 {source="MONDO:GARD"}
xref: MEDGEN:419882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538085 {source="MONDO:equivalentTo"}
xref: UMLS:C2931726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419882"}
is_a: MONDO:0019040 ! chromosomal disorder
is_a: MONDO:0700008 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 1 disorder
relationship: disease_arises_from_structure CHR:9606-chr1q12-q21 {source="https://orcid.org/0000-0002-4142-7153"} ! 1q12-q21 (Human)

[Term]
id: MONDO:0043087
name: thickened earlobes with conductive deafness from incus-stapes abnormalities
synonym: "conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia" RELATED [GARD:0002034, MESH:C536511]
synonym: "Schweitzer Kemink Graham syndrome" RELATED [GARD:0002034]
synonym: "thickened earlobes with conductive deafness from incus-stapes abnormalities" EXACT [MESH:C536511]
xref: MEDGEN:419750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536511 {source="MONDO:equivalentTo"}
xref: UMLS:C2931222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419750"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043089
name: acute posterior multifocal placoid pigment epitheliopathy
def: "Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications." [GARD:0002183]
subset: gard_rare {source="GARD:2183", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1101"}
subset: rare
synonym: "acute multifocal placoid pigment epitheliopathy" RELATED [GARD:0002183]
synonym: "acute placoid pigment epitheliopathy" RELATED [GARD:0002183]
synonym: "acute posterior multifocal placoid pigment epitheliopathy" EXACT []
synonym: "AMPPE" RELATED ABBREVIATION [GARD:0002183]
synonym: "amppe - acute multifocal placoid pigment epitheliopathy" RELATED []
synonym: "APMPPE" RELATED ABBREVIATION [GARD:0002183]
synonym: "apmppe" RELATED []
synonym: "Epitheliopathy, Acute Posterior Multifocal Placoid Pigment" EXACT [NORD:1101]
synonym: "epitheliopathy, acute posterior multifocal placoid pigment" RELATED [GARD:0002183]
synonym: "multifocal placoid pigment epitheliopathy" RELATED [GARD:0002183]
synonym: "pigment epitheliopathy, disseminated retinitis and retinochoroiditis" RELATED []
xref: GARD:2183 {source="MONDO:GARD"}
xref: MEDGEN:56348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1101 {source="MONDO:NORD"}
xref: SCTID:89188001 {source="MONDO:equivalentTo"}
xref: UMLS:C0154884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56348"}
is_a: MONDO:0023833 ! multifocal choroiditis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0043094
name: ichthyosis, follicular
subset: gard_rare {source="GARD:2355", source="MONDO:GARD"}
subset: rare
synonym: "follicular ichthyosis" EXACT [GARD:0002355]
xref: GARD:2355 {source="MONDO:GARD"}
xref: MEDGEN:98025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200628 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:238627002 {source="MONDO:equivalentTo"}
xref: UMLS:C0406344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98025"}
is_a: MONDO:0019269 {source="https://orcid.org/0000-0001-5208-3432"} ! ichthyosis
relationship: excluded_subClassOf MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI

[Term]
id: MONDO:0043096
name: holoacardius amorphus
subset: gard_rare {source="GARD:2720", source="MONDO:GARD"}
subset: rare
synonym: "amorphous globosus" RELATED []
synonym: "amorphus globosus" RELATED []
synonym: "fetus anideus" RELATED []
synonym: "foetus anideus" RELATED OMO:0003005 []
synonym: "Holoacardius amorphus" EXACT []
xref: GARD:2720 {source="MONDO:GARD"}
xref: MEDGEN:75621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2161 {source="MONDO:equivalentObsolete"}
xref: SCTID:41049003 {source="MONDO:equivalentTo"}
xref: UMLS:C0266719 {source="MEDGEN:75621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0022357 ! congenital acardia

[Term]
id: MONDO:0043099
name: Hordnes Engebretsen Knudtson syndrome
subset: gard_rare {source="GARD:2736", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability" RELATED [GARD:0002736]
synonym: "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation" RELATED DEPRECATED [GARD:0002736]
xref: GARD:2736 {source="MONDO:GARD"}
xref: MEDGEN:419333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536067 {source="MONDO:equivalentTo"}
xref: UMLS:C2931100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419333"}
is_a: MONDO:0006936 {source="MESH:C536067"} ! pulmonary valve stenosis
is_a: MONDO:0015469 {source="MESH:C536067"} ! craniosynostosis
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C536067", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0043101
name: hypothalamic dysfunction
def: "Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction." [GARD:0002932]
synonym: "hypothalamic dysfunction" EXACT []
synonym: "hypothalamic syndrome" EXACT []
xref: MEDGEN:155833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111568001 {source="MONDO:equivalentTo"}
xref: UMLS:C0751230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155833"}
is_a: MONDO:0002150 ! hypothalamic disorder

[Term]
id: MONDO:0043103
name: hypothyroidism due to iodide transport defect
def: "A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition." [NCIT:C121747]
subset: gard_rare {source="GARD:2938", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hypothyroidism due to iodide concentration defect" RELATED []
synonym: "hypothyroidism due to iodide transport defect" EXACT []
synonym: "iodide Transport defect" EXACT [NCIT:C121747]
synonym: "iodide transport defect" EXACT []
synonym: "iodide transport failure" RELATED []
synonym: "iodine accumulation defect" RELATED []
synonym: "iodine transport defect" RELATED []
xref: GARD:2938 {source="MONDO:GARD"}
xref: MEDGEN:124412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C121747 {source="MONDO:equivalentTo"}
xref: SCTID:22558005 {source="MONDO:equivalentTo"}
xref: UMLS:C0271826 {source="MEDGEN:124412", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018612 {source="NCIT:C121747"} ! congenital hypothyroidism

[Term]
id: MONDO:0043106
name: ichthyosis linearis circumflexa
subset: gard_rare {source="GARD:2967", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ichthyosis linearis circumflexa" EXACT []
xref: GARD:2967 {source="MONDO:GARD"}
xref: MEDGEN:78578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:54336006 {source="MONDO:equivalentTo"}
xref: UMLS:C0265962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78578"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="PMID:25710899", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0006025 ! autosomal recessive disease
is_a: MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
relationship: excluded_subClassOf MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0043108
name: infantile striato thalamic degeneration
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="GARD:3004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
xref: GARD:3004 {source="MONDO:GARD"}
xref: Orphanet:1575 {source="GARD:0003004", source="MONDO:equivalentObsolete"}
is_a: MONDO:0002254 ! syndromic disease
relationship: has_characteristic HP:0003593 ! Infantile onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0043110
name: jones hersh yusk syndrome
subset: gard_rare {source="GARD:3055", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "aplasia cutis cleft palate epidermolysis" RELATED [GARD:0003055, MESH:C535885]
synonym: "aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly" RELATED [GARD:0003055, MESH:C535885]
synonym: "ptosis, ectropion, thin skin, beaked nose" RELATED [GARD:0003055, MESH:C535885]
xref: GARD:3055 {source="MONDO:GARD"}
xref: MEDGEN:418974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535885 {source="MONDO:equivalentTo"}
xref: UMLS:C2931054 {source="MEDGEN:418974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="MESH:C535885"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0043112
name: lachiewicz sibley syndrome
synonym: "hereditary renal disease and preauricular pits" RELATED [GARD:0003157, MESH:C538131]
xref: MEDGEN:419151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538131 {source="MONDO:equivalentTo"}
xref: UMLS:C2931742 {source="MONDO:equivalentTo", source="MEDGEN:419151", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MESH:C538131"} ! kidney disorder

[Term]
id: MONDO:0043114
name: Landy-Donnai syndrome
synonym: "hydrops, ectrodactyly, syndactyly, duplication of the great toes" RELATED [GARD:0003172, MESH:C537266]
xref: MEDGEN:419417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537266 {source="MONDO:equivalentTo"}
xref: UMLS:C2931460 {source="MEDGEN:419417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043116
name: Iida Kannari syndrome
subset: gard_rare {source="GARD:3249", source="MONDO:GARD"}
subset: rare
synonym: "craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features" RELATED [GARD:0003249, MESH:C536284]
xref: GARD:3249 {source="MONDO:GARD"}
xref: MEDGEN:443989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536284 {source="MONDO:equivalentTo"}
xref: UMLS:C2931159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443989"}
is_a: MONDO:0015469 {source="MESH:C536284"} ! craniosynostosis
relationship: excluded_subClassOf MONDO:0005392 {source="MESH:C536284", source="https://orcid.org/0000-0001-5208-3432"} ! scoliosis
relationship: excluded_subClassOf MONDO:0016064 {source="MESH:C536284", source="https://orcid.org/0000-0001-5208-3432"} ! cleft palate

[Term]
id: MONDO:0043120
name: male pseudohermaphroditism due to defective lh molecule
subset: gard_rare {source="GARD:3356", source="MONDO:GARD"}
subset: rare
xref: GARD:3356 {source="MONDO:GARD"}
xref: HGNC:6584 {source="GARD:0003356"}
xref: MEDGEN:372012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535692 {source="MONDO:equivalentTo"}
xref: UMLS:C1835303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372012"}
is_a: MONDO:0020040 {source="MESH:C535692"} ! 46,XY disorder of sex development

[Term]
id: MONDO:0043123
name: massa casaer ceulemans syndrome
subset: gard_rare {source="GARD:3407", source="MONDO:GARD"}
subset: rare
synonym: "arthrogryposis multiplex congenita associated with lissencephaly" RELATED [GARD:0003407, MESH:C536031]
xref: GARD:3407 {source="MONDO:GARD"}
xref: MEDGEN:418986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536031 {source="MONDO:equivalentTo"}
xref: UMLS:C2931090 {source="MEDGEN:418986", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008779 {source="MESH:C536031"} ! arthrogryposis
is_a: MONDO:0018838 {source="MESH:C536031"} ! lissencephaly spectrum disorders

[Term]
id: MONDO:0043125
name: mcpherson robertson cammarano syndrome
synonym: "dominantly inherited ptosis, strabismus and ectopic pupils" RELATED [GARD:0003431, MESH:C538161]
xref: MEDGEN:419888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538161 {source="MONDO:equivalentTo"}
xref: UMLS:C2931751 {source="MEDGEN:419888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000728 {source="MESH:C538161"} ! ptosis

[Term]
id: MONDO:0043127
name: mehta lewis patton syndrome
subset: gard_rare {source="GARD:3450", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital heart disease, ptosis, hypodontia, and craniosynostosis" RELATED [GARD:0003450, MESH:C536147]
xref: GARD:3450 {source="MONDO:GARD"}
xref: MEDGEN:419340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536147 {source="MONDO:equivalentTo"}
xref: UMLS:C2931120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419340"}
is_a: MONDO:0000728 {source="MESH:C536147"} ! ptosis
is_a: MONDO:0005453 {source="MESH:C536147"} ! congenital heart disease
is_a: MONDO:0008797 {source="MESH:C536147"} ! anodontia
is_a: MONDO:0015469 {source="MESH:C536147"} ! craniosynostosis

[Term]
id: MONDO:0043129
name: merlob grunebaum reisner syndrome
synonym: "familial opposable triphalangeal thumbs associated with duplication of the big toes" RELATED [GARD:0003545]
xref: MEDGEN:419427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537461 {source="MONDO:equivalentTo"}
xref: UMLS:C2931499 {source="MEDGEN:419427", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043131
name: Michels Caskey syndrome
subset: gard_rare {source="GARD:3590", source="MONDO:GARD"}
subset: rare
synonym: "Mullerian aplasia with hypoplastic thumbs" RELATED [GARD:0003590, MESH:C537576]
synonym: "Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities" RELATED [GARD:0003590]
xref: GARD:3590 {source="MONDO:GARD"}
xref: MEDGEN:419102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537576 {source="MONDO:equivalentTo"}
xref: UMLS:C2931537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419102"}
is_a: MONDO:0017576 {source="MESH:C537576"} ! 46,XX disorder of sex development

[Term]
id: MONDO:0043133
name: microcephaly micropenis convulsions
subset: gard_rare {source="GARD:3628", source="MONDO:GARD"}
subset: rare
synonym: "microcephaly micropenis convulsions" EXACT [MESH:C537540]
synonym: "microcephaly micropenis seizures" RELATED [GARD:0003628, MESH:C537540]
synonym: "microcephaly seizures genital hypoplasia" RELATED [GARD:0003628]
xref: GARD:3628 {source="MONDO:GARD"}
xref: MEDGEN:444076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537540 {source="MONDO:equivalentTo"}
xref: UMLS:C2931525 {source="MEDGEN:444076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001386 {source="MESH:C537540"} ! visual epilepsy

[Term]
id: MONDO:0043135
name: microcephaly microphthalmos blindness
xref: MEDGEN:419434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537541 {source="MONDO:equivalentTo"}
xref: UMLS:C2931526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419434"}
is_a: MONDO:0001941 {source="MESH:C537541"} ! blindness (disorder)
is_a: MONDO:0021129 {source="MESH:C537541"} ! microphthalmia

[Term]
id: MONDO:0043137
name: isolated microcephaly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microcephaly, non-syndromic" RELATED []
synonym: "Nonsyndromal microcephaly" RELATED [GARD:0003630, MESH:C537542]
synonym: "nonsyndromic microcephaly" RELATED [GARD:0003630, MESH:C537542]
xref: MEDGEN:419828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537542 {source="MONDO:equivalentTo"}
xref: UMLS:C2931527 {source="MEDGEN:419828", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001149 {source="https://orcid.org/0000-0002-4142-7153"} ! microcephaly
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_feature HP:0000252 ! Microcephaly
intersection_of: disease_has_location UBERON:0000033 ! head
intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0043139
name: microcephaly sparse hair intellectual disability seizures
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:444077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537545 {source="MONDO:equivalentTo"}
xref: UMLS:C2931530 {source="MEDGEN:444077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001386 {source="MESH:C537545"} ! visual epilepsy
is_a: MONDO:0004907 {source="MESH:C537545"} ! alopecia
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537545", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0043141
name: microdontia hypodontia short stature
subset: gard_rare {source="GARD:3638", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality" RELATED [GARD:0003638]
xref: GARD:3638 {source="MONDO:GARD"}
xref: MEDGEN:419435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537553 {source="MONDO:equivalentTo"}
xref: UMLS:C2931532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419435"}
is_a: MONDO:0008797 {source="MESH:C537553"} ! anodontia
is_a: MONDO:0015514 {source="MESH:C537553"} ! hereditary endocrine growth disease

[Term]
id: MONDO:0043143
name: microphthalmia microtia fetal akinesia
subset: gard_rare {source="GARD:3650", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2547"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:2547"}
subset: rare
synonym: "fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus" RELATED [GARD:0003650]
synonym: "foetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus" RELATED OMO:0003005 []
synonym: "microphthalmia-microtia-fetal akinesia" RELATED [GARD:0003650]
synonym: "Thomas Jewett Raines syndrome" RELATED [GARD:0003650]
synonym: "Thomas-Jewett-Raines syndrome" RELATED [GARD:0003650]
xref: GARD:3650 {source="MONDO:GARD"}
xref: MEDGEN:444005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536513 {source="MONDO:equivalentTo"}
xref: Orphanet:2547 {source="MONDO:equivalentTo", source="GARD:0003650"}
xref: UMLS:C2931224 {source="MONDO:equivalentTo", source="MEDGEN:444005", source="MONDO:MEDGEN"}
is_a: MONDO:0015168 {source="Orphanet:2547"} ! arthrogryposis multiplex congenita
is_a: MONDO:0016073 {source="Orphanet:2547"} ! syndromic microphthalmia
is_a: MONDO:0021129 {source="MESH:C536513"} ! microphthalmia
is_a: MONDO:0043009 {source="Orphanet:2547"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome

[Term]
id: MONDO:0043152
name: negative rheumatoid factor polyarthritis
synonym: "RF-ve CP" RELATED [GARD:0003931, MESH:C538347]
synonym: "rheumatoid factor negative erosive chronic polyarthritis" RELATED [GARD:0003931, MESH:C538347]
synonym: "rheumatoid factor-negative polyarthritis" RELATED [GARD:0003931, MESH:C538347]
xref: MEDGEN:444150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538347 {source="MONDO:equivalentTo"}
xref: NANDO:2201057 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C2931825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444150"}
is_a: MONDO:0005578 {source="MESH:C538347"} ! arthritic joint disease

[Term]
id: MONDO:0043154
name: neonatal ovarian cyst
synonym: "fetal ovarian cyst" RELATED [GARD:0003934, MESH:C536396]
synonym: "foetal ovarian cyst" RELATED OMO:0003005 []
xref: MEDGEN:443996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536396 {source="MONDO:equivalentTo"}
xref: UMLS:C2931186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443996"}
is_a: MONDO:0003282 {source="MESH:C536396"} ! ovarian cyst

[Term]
id: MONDO:0043156
name: nephrotic syndrome ocular anomalies
synonym: "familial infantile nephrotic syndrome with ocular abnormalities" RELATED [GARD:0003945, MESH:C536403]
synonym: "Glastre Cochat Bouvier syndrome" RELATED [GARD:0003945, MESH:C536403]
xref: MEDGEN:419736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536403 {source="MONDO:equivalentTo"}
xref: UMLS:C2931188 {source="MEDGEN:419736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005377 {source="MESH:C536403"} ! nephrotic syndrome

[Term]
id: MONDO:0043162
name: pagon stephan syndrome
subset: gard_rare {source="GARD:4195", source="MONDO:GARD"}
subset: rare
synonym: "septo-optic dysplasia with digital anomalies" RELATED [GARD:0004195, MESH:C538100]
xref: GARD:4195 {source="MONDO:GARD"}
xref: MEDGEN:419885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538100 {source="MONDO:equivalentTo"}
xref: Orphanet:1853 {source="GARD:0004195"}
xref: UMLS:C2931733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419885"}
is_a: MONDO:0008428 {source="MESH:C538100"} ! septooptic dysplasia

[Term]
id: MONDO:0043164
name: palmer pagon syndrome
subset: gard_rare {source="GARD:4199", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2184"}
subset: orphanet_rare {source="Orphanet:2184"}
subset: rare
synonym: "familial hydrocephalus with a low-insertion umbilicus" RELATED [GARD:0004199]
synonym: "hydrocephaly - low insertion umbilicus" RELATED [GARD:0004199]
xref: GARD:4199 {source="MONDO:GARD"}
xref: MEDGEN:419886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538107 {source="MONDO:equivalentTo"}
xref: Orphanet:2184 {source="MONDO:equivalentTo", source="GARD:0004199"}
xref: UMLS:C2931734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419886"}
is_a: MONDO:0001150 {source="MESH:C538107"} ! hydrocephalus

[Term]
id: MONDO:0043166
name: pancreatic lipomatosis duodenal stenosis
synonym: "pancreatic lipomatosis and duodenal atresia" RELATED [GARD:0004208, MESH:C535839]
xref: MEDGEN:419702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535839 {source="MONDO:equivalentTo"}
xref: UMLS:C2931040 {source="MEDGEN:419702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002356 {source="MESH:C535839"} ! pancreas disorder
is_a: MONDO:0002688 {source="MESH:C535839"} ! duodenal obstruction
is_a: MONDO:0006574 {source="MESH:C535839"} ! lipomatosis

[Term]
id: MONDO:0043168
name: panostotic fibrous dysplasia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia" RELATED [GARD:0004213]
xref: MEDGEN:419799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537164 {source="MONDO:equivalentTo"}
xref: UMLS:C2931430 {source="MEDGEN:419799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000845 {source="MESH:C537164"} ! fibrous dysplasia
is_a: MONDO:0009692 {source="MESH:C537164"} ! primary myelofibrosis

[Term]
id: MONDO:0043170
name: Pavone Fiumara Rizzo syndrome
synonym: "Pavone Fiumara Rizzo syndrome" EXACT [GARD:0004262]
synonym: "syndactyly type 1 with cataracts and intellectual disability" RELATED [MESH:C536313]
synonym: "syndactyly type 1 with cataracts and mental retardation" RELATED DEPRECATED [MESH:C536313]
xref: MEDGEN:419352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536313 {source="MONDO:equivalentTo"}
xref: UMLS:C2931172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419352"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043172
name: pfeiffer rockelein syndrome
synonym: "asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia" RELATED [GARD:0004306, MESH:C537890]
xref: MEDGEN:419465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537890 {source="MONDO:equivalentTo"}
xref: UMLS:C2931656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419465"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043174
name: Pfeiffer Tietze Welte syndrome
synonym: "sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th" RELATED [GARD:0004308]
xref: MEDGEN:419859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537891 {source="MONDO:equivalentTo"}
xref: UMLS:C2931657 {source="MEDGEN:419859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537891", source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0043176
name: phosphoribosylpyrophosphate synthetase deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "deafness hyperuricemia neurologic ataxia" EXACT [MONDO:0022939, MONDO:0022940]
synonym: "PRPP synthetase deficiency" RELATED [GARD:0004337]
xref: HGNC:9462 {source="GARD:0004337", source="MONDO:gene"}
xref: MEDGEN:220944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535995 {source="MONDO:equivalentTo"}
xref: MESH:C537897 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: SCTID:124343001 {source="MONDO:equivalentTo"}
xref: UMLS:C1291401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220944"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
is_a: MONDO:0019052 {source="MESH:C535995"} ! inborn errors of metabolism
is_a: MONDO:0019254 {source="MESH:C537897"} ! inborn disorder of purine or pyrimidine metabolism
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity" xsd:anyURI {source="GARD:0004337"}

[Term]
id: MONDO:0043179
name: piepkorn karp hickok syndrome
synonym: "short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect" RELATED [GARD:0004345]
xref: MEDGEN:418962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535774 {source="MONDO:equivalentTo"}
xref: UMLS:C2931016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418962"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043181
name: obsolete Refsum disease with increased pipecolic acidemia
comment: Obsoleted in OMIM.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2590" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0009958

[Term]
id: MONDO:0043183
name: podder-tolmie syndrome
synonym: "meningoencephalocele, arthrogryposis and hypoplastic thumbs" RELATED [GARD:0004387, MESH:C537518]
xref: MEDGEN:419827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537518 {source="MONDO:equivalentTo"}
xref: UMLS:C2931519 {source="MONDO:equivalentTo", source="MEDGEN:419827", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043185
name: pointer syndrome
synonym: "skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties" RELATED [GARD:0004395, MESH:C536323]
xref: MEDGEN:208668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536323 {source="MONDO:equivalentTo"}
xref: UMLS:C0796118 {source="MEDGEN:208668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043187
name: obsolete pulmonary artery agenesis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7171" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020007

[Term]
id: MONDO:0043191
name: radial defect robin sequence
subset: gard_rare {source="GARD:4624", source="MONDO:GARD"}
subset: rare
synonym: "bilateral radial defects club foot deformity micrognathia and cleft palate" RELATED [GARD:0004624]
synonym: "bilateral radial defects, club foot deformity, micrognathia and cleft palate" RELATED [MESH:C536261]
synonym: "Bruce Winship syndrome" RELATED [GARD:0004624]
synonym: "Bruce winship syndrome" RELATED [MESH:C536261]
xref: GARD:4624 {source="MONDO:GARD"}
xref: MEDGEN:419346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536261 {source="MONDO:equivalentTo"}
xref: UMLS:C2931143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419346"}
is_a: MONDO:0009869 {source="MESH:C536261"} ! isolated Pierre-Robin syndrome

[Term]
id: MONDO:0043193
name: richieri-costa guion-almeida cohen syndrome
synonym: "acrofacial dysostosis Richieri Costa Guion-Almeida type" RELATED [MESH:C535676]
synonym: "overgrowth - craniosynostosis - arthrogryposis" RELATED [GARD:0004712]
synonym: "Richieri Costa Guion-Almeida dwarfism" RELATED [MESH:C535676]
synonym: "Richieri-costa Guion-Almeida Cohen syndrome" EXACT [MESH:C535676]
xref: MEDGEN:419687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535676 {source="MONDO:equivalentTo"}
xref: Orphanet:2096 {source="GARD:0004712"}
xref: UMLS:C2930979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419687"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043195
name: Rubinstein Taybi like syndrome
synonym: "Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses" RELATED [GARD:0004745]
xref: MEDGEN:418972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535877 {source="MONDO:equivalentTo"}
xref: OMIM:180850 {source="GARD:0004745", source="MONDO:equivalentObsolete"}
xref: UMLS:C2931052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418972"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_shares_features_of MONDO:0019188 ! Rubinstein-Taybi syndrome

[Term]
id: MONDO:0043197
name: ruvalcaba churesigaew myhre syndrome
synonym: "onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis" RELATED [GARD:0004747]
xref: MEDGEN:419412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537190 {source="MONDO:equivalentTo"}
xref: UMLS:C2931437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419412"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043199
name: short limb dwarf lethal colavita kozlowski type
synonym: "Colavita Kozlowski syndrome" RELATED [GARD:0004823, MESH:C537597]
xref: MEDGEN:419106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537597 {source="MONDO:equivalentTo"}
xref: UMLS:C2931544 {source="MEDGEN:419106", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043206
name: trichostasis spinulosa
def: "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown." [GARD:0005269]
synonym: "elevated dark spiny papules on the face or trunk" RELATED [GARD:0005269]
synonym: "trichostasis spinulosa" EXACT []
xref: MEDGEN:82669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536558 {source="MONDO:equivalentTo"}
xref: Orphanet:866 {source="GARD:0005269"}
xref: SCTID:21049007 {source="MONDO:equivalentTo"}
xref: UMLS:C0263487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82669"}
is_a: MONDO:0002917 {source="MESH:C536558"} ! disorder of pilosebaceous unit
is_a: MONDO:0006566 {source="MESH:C536558"} ! keratosis

[Term]
id: MONDO:0043207
name: urethral obstruction sequence
subset: gard_rare {source="GARD:5428", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "early urethral obstruction sequence" EXACT [GARD:0005428, MESH:C536477]
synonym: "EUOS" RELATED ABBREVIATION [GARD:0005428]
synonym: "renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction" RELATED [GARD:0005428]
xref: GARD:5428 {source="MONDO:GARD"}
xref: MEDGEN:75568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536477 {source="MONDO:equivalentTo"}
xref: SCTID:18241005 {source="MONDO:equivalentTo"}
xref: UMLS:C0265363 {source="MEDGEN:75568", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001556 {source="MESH:C536477"} ! urethral obstruction
is_a: MONDO:0018559 ! fetal lower urinary tract obstruction

[Term]
id: MONDO:0043209
name: albinism
def: "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." [NCIT:C84543-modified]
comment: This groups multiple types, including those restricted to the eyes, the skin or both
subset: gard_rare {source="GARD:5768", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "albinism" EXACT [NCIT:C84543]
xref: GARD:5768 {source="MONDO:GARD"}
xref: ICD10CM:E70.3 {source="MONDO:equivalentTo"}
xref: MEDGEN:182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000417 {source="MONDO:equivalentTo"}
xref: NCIT:C84543 {source="MONDO:equivalentTo"}
xref: SCTID:15890002 {source="MONDO:equivalentTo"}
xref: UMLS:C0001916 {source="MEDGEN:182", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004736 {source="MESH:D000417"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019052 {source="MESH:D000417/inferred"} ! inborn errors of metabolism
relationship: excluded_subClassOf MONDO:0024255 {source="MESH:D000417", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete genetic skin disease

[Term]
id: MONDO:0043218
name: neurovascular disorder
def: "A disorder of the nervous system related to a vascular etiology." [NCIT:C117007]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of nervous system vasculature" EXACT []
synonym: "nervous system disorder of vasculature" EXACT [MONDO:design_pattern]
synonym: "neurovascular disorder" EXACT [NCIT:C117007]
synonym: "vasculature nervous system disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:857738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117007 {source="MONDO:equivalentTo"}
xref: UMLS:C3898144 {source="MEDGEN:857738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="MONDO:Redundant", source="NCIT:C117007"} ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: disease_has_location UBERON:0002049 ! vasculature

[Term]
id: MONDO:0043219
name: migraine with brainstem aura
def: "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem." [NCIT:C117013]
subset: gard_rare {source="GARD:5896", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "basilar artery migraine" RELATED [GARD:0005896]
synonym: "basilar artery migraine with aura" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "basilar migraine" EXACT []
synonym: "basilar-type migraine" EXACT [GARD:0005896, NCIT:C117013]
synonym: "Bickerstaff migraine" RELATED [GARD:0005896]
synonym: "bickerstaff's migraine" RELATED []
synonym: "brainstem migraine" RELATED [GARD:0005896]
synonym: "MBA" RELATED ABBREVIATION [GARD:0005896]
synonym: "vertebrobasilar migraine" RELATED [GARD:0005896]
xref: GARD:5896 {source="MONDO:GARD"}
xref: MEDGEN:82857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117013 {source="MONDO:equivalentTo"}
xref: SCTID:83351003 {source="MONDO:equivalentTo"}
xref: UMLS:C0270860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82857"}
is_a: MONDO:0005277 {source="NCIT:C117013"} ! migraine disorder
is_a: MONDO:0005475 {source="MONDO:Redundant"} ! migraine with aura

[Term]
id: MONDO:0043224
name: multi-infarct dementia
def: "A common form of dementia caused by multiple cortical or subcortical cerebral infarctions." [NCIT:C34522]
subset: otar {source="MONDO:OTAR"}
synonym: "arteriosclerotic dementia" RELATED []
synonym: "Binswanger disease" RELATED [GARD:0005925]
synonym: "Binswanger's disease" RELATED [GARD:0005925]
synonym: "dementia multi infarct" RELATED [MESH:D015161]
synonym: "dementia multi-infarct" RELATED [GARD:0005925, MESH:D015161]
synonym: "dementia multi-infarcts" RELATED [MESH:D015161]
synonym: "dementia, lacunar" RELATED [MESH:D015161]
synonym: "dementia, multi infarct" RELATED [MESH:D015161]
synonym: "dementia, Multiinfarct" RELATED [MESH:D015161]
synonym: "Dementias, lacunar" RELATED [MESH:D015161]
synonym: "Dementias, multi-infarct" RELATED [MESH:D015161]
synonym: "Dementias, Multiinfarct" RELATED [MESH:D015161]
synonym: "lacunar dementia" RELATED [MESH:D015161]
synonym: "lacunar Dementias" RELATED [MESH:D015161]
synonym: "multi infarct dementia" EXACT [NCIT:C34522]
synonym: "multi-infarct dementia" EXACT [GARD:0005925, MESH:D015161, NCIT:C34522]
synonym: "multi-infarct Dementias" RELATED [MESH:D015161]
synonym: "multi-infarct, dementia" RELATED [MESH:D015161]
synonym: "multi-infarcts, dementia" RELATED [MESH:D015161]
synonym: "Multiinfarct dementia" RELATED [MESH:D015161]
synonym: "Multiinfarct Dementias" RELATED [MESH:D015161]
xref: MEDGEN:8277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015161 {source="MONDO:equivalentTo"}
xref: NCIT:C34522 {source="MONDO:equivalentTo"}
xref: SCTID:56267009 {source="MONDO:equivalentTo"}
xref: UMLS:C0011263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8277"}
is_a: MONDO:0002679 {source="MESH:D015161"} ! cerebral infarction
is_a: MONDO:0004648 {source="MESH:D015161", source="NCIT:C34522"} ! vascular dementia

[Term]
id: MONDO:0043226
name: postpartum amenorrhea-galactorrhea syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Chiari Frommel syndrome" RELATED [MESH:D002640]
synonym: "Chiari-frommel syndrome" RELATED []
synonym: "disease, Frommel" RELATED [MESH:D002640]
synonym: "disease, Frommel's" RELATED [MESH:D002640]
synonym: "Frommel disease" RELATED [MESH:D002640]
synonym: "Frommel's disease" RELATED [MESH:D002640]
synonym: "persistent postpartum amenorrhea-galactorrhea syndrome" RELATED []
synonym: "postpartum amenorrhea-galactorrhea syndrome" EXACT []
synonym: "postpartum amenorrhoea-galactorrhea syndrome" RELATED []
synonym: "syndrome, Chiari-Frommel" RELATED [MESH:D002640]
xref: MEDGEN:2993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002640 {source="MONDO:equivalentTo"}
xref: SCTID:85039006 {source="MONDO:equivalentTo"}
xref: UMLS:C0008043 {source="MONDO:equivalentTo", source="MEDGEN:2993", source="MONDO:MEDGEN"}
is_a: MONDO:0002657 {source="MESH:D002640/inferred"} ! breast disorder
is_a: MONDO:0005804 ! hyperprolactinemia
is_a: MONDO:0009256 {source="MESH:D002640"} ! galactorrhea
is_a: MONDO:0024575 {source="MESH:D002640/inferred"} ! pregnancy disorder
is_a: MONDO:0044013 {source="MESH:D002640/inferred"} ! puerperal disorder

[Term]
id: MONDO:0043230
name: ciguatera fish poisoning
def: "Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." [MESH:D036841]
subset: otar {source="MONDO:OTAR"}
synonym: "ciguatera" RELATED [MESH:D036841]
synonym: "ciguatera fish poisoning" EXACT [MESH:D036841]
synonym: "ciguatera fish Poisonings" RELATED [MESH:D036841]
synonym: "ciguatera poisoning" RELATED [GARD:0006113]
synonym: "ciguatera Poisonings" RELATED [MESH:D036841]
synonym: "ciguatoxin causing toxic effect" EXACT []
synonym: "poisoning, ciguatera" RELATED [MESH:D036841]
synonym: "poisoning, ciguatera fish" RELATED [MESH:D036841]
synonym: "Poisonings, ciguatera" RELATED [MESH:D036841]
synonym: "Poisonings, ciguatera fish" RELATED [MESH:D036841]
synonym: "toxic effect of ciguatera fish poisoning" RELATED []
xref: EFO:1001291 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D036841 {source="MONDO:equivalentTo"}
xref: SCTID:241774007 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D036841/inferred"} ! poisoning

[Term]
id: MONDO:0043233
name: exfoliative dermatitis
def: "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" [MESH:D003873]
subset: otar {source="MONDO:OTAR"}
synonym: "Dermatitides, exfoliative" RELATED [MESH:D003873]
synonym: "dermatitis exfoliativa" RELATED [MESH:D003873]
synonym: "erythroderma" RELATED [MESH:D003873]
synonym: "Erythrodermas" RELATED [MESH:D003873]
synonym: "exfoliative Dermatitides" RELATED [MESH:D003873]
synonym: "exfoliative dermatitis" EXACT [MESH:D003873]
xref: EFO:0009456 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:3767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003873 {source="MONDO:equivalentTo"}
xref: NCIT:C39646 {source="MONDO:equivalentTo"}
xref: SCTID:399992009 {source="MONDO:equivalentTo"}
xref: UMLS:C0011606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3767"}
is_a: MONDO:0002406 {source="MESH:D003873"} ! dermatitis

[Term]
id: MONDO:0043237
name: glossodynia
def: "Painful sensations in the tongue, including a sensation of burning." [MESH:D005926]
subset: otar {source="MONDO:OTAR"}
synonym: "glossalgia" RELATED []
synonym: "Glossalgias" RELATED [MESH:D005926]
synonym: "glossodynia" EXACT [MESH:D005926]
synonym: "Glossodynias" RELATED [MESH:D005926]
synonym: "Glossopyroses" RELATED [MESH:D005926]
synonym: "glossopyrosis" RELATED [MESH:D005926]
synonym: "painful tongue" RELATED []
synonym: "soreness of tongue" RELATED []
xref: MEDGEN:6617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005926 {source="MONDO:equivalentTo"}
xref: SCTID:30731004 {source="MONDO:equivalentTo"}
xref: UMLS:C0017672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6617"}
is_a: MONDO:0001165 {source="MESH:D005926"} ! tongue disorder
is_a: MONDO:0700057 {source="https://orcid.org/0000-0002-4142-7153"} ! neurological pain disorder

[Term]
id: MONDO:0043240
name: hemophilic arthropathy
def: "A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space." [NCIT:C27039]
synonym: "arthropathy in haemophilia" RELATED OMO:0003005 []
synonym: "arthropathy in hemophilia" RELATED []
synonym: "hemophilic arthritis" EXACT [NCIT:C27039]
synonym: "hemophilic arthropathy" EXACT []
xref: MEDGEN:120487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27039 {source="MONDO:equivalentTo"}
xref: SCTID:80813006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120487"}
is_a: MONDO:0005578 {source="NCIT:C27039"} ! arthritic joint disease
relationship: disease_has_feature MONDO:0018660 {source="NCIT:C27039"} ! hemophilia

[Term]
id: MONDO:0043243
name: leukoplakia
def: "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." [NCIT:C3186]
subset: otar {source="MONDO:OTAR"}
synonym: "keratotic plaque" EXACT [NCIT:C3186]
synonym: "lesion, leukoplakic" RELATED [MESH:D007971]
synonym: "lesions, leukoplakic" RELATED [MESH:D007971]
synonym: "leukokeratoses" RELATED [MESH:D007971]
synonym: "leukokeratosis" RELATED [MESH:D007971]
synonym: "leukoplakia" EXACT [NCIT:C3186]
synonym: "leukoplakias" RELATED [MESH:D007971]
synonym: "leukoplakic lesion" RELATED [MESH:D007971]
synonym: "leukoplakic lesions" RELATED [MESH:D007971]
xref: MEDGEN:44133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007971 {source="MONDO:equivalentTo"}
xref: NCIT:C3186 {source="MONDO:equivalentTo"}
xref: SCTID:274134003 {source="MONDO:equivalentTo"}
xref: UMLS:C0023531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44133"}
is_a: MONDO:0021074 {source="MESH:D007971", source="NCIT:C3186"} ! precancerous condition
relationship: disease_has_location UBERON:0000344 ! mucosa

[Term]
id: MONDO:0043247
name: Mallory-Weiss syndrome
def: "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics." [NCIT:C84881]
synonym: "gastro-esophageal laceration-hemorrhage syndrome" RELATED []
synonym: "gastroesophageal laceration haemorrhage" RELATED OMO:0003005 []
synonym: "gastroesophageal laceration hemorrhage" RELATED [MESH:D008309]
synonym: "gastroesophageal laceration-hemorrhage" RELATED [GARD:0006967, MESH:D008309]
synonym: "gastroesophageal laceration-hemorrhage syndrome" RELATED []
synonym: "gastroesophageal laceration-hemorrhages" RELATED [MESH:D008309]
synonym: "junction, mucosal Lacerations-gastroesophageal" RELATED [MESH:D008309]
synonym: "junctions, mucosal Lacerations-gastroesophageal" RELATED [MESH:D008309]
synonym: "laceration, Mallory-Weiss" RELATED [MESH:D008309]
synonym: "laceration-hemorrhage, gastroesophageal" RELATED [MESH:D008309]
synonym: "laceration-hemorrhages, gastroesophageal" RELATED [MESH:D008309]
synonym: "Lacerations-gastroesophageal junction, mucosal" RELATED [MESH:D008309]
synonym: "Lacerations-gastroesophageal junctions, mucosal" RELATED [MESH:D008309]
synonym: "Mallory Weiss laceration" RELATED [MESH:D008309]
synonym: "Mallory Weiss syndrome" RELATED [MESH:D008309]
synonym: "Mallory Weiss tear" RELATED [MESH:D008309]
synonym: "Mallory-Weiss laceration" RELATED [GARD:0006967, MESH:D008309]
synonym: "Mallory-Weiss syndrome" EXACT [NCIT:C84881]
synonym: "Mallory-Weiss tear" RELATED [GARD:0006967, MESH:D008309]
synonym: "mucosal lacerations - gastroesophageal junction" RELATED [GARD:0006967]
synonym: "mucosal Lacerations gastroesophageal junction" RELATED [MESH:D008309]
synonym: "mucosal Lacerations-gastroesophageal junction" RELATED [MESH:D008309]
synonym: "mucosal Lacerations-gastroesophageal junctions" RELATED [MESH:D008309]
synonym: "syndrome, Mallory-Weiss" RELATED [MESH:D008309]
xref: MEDGEN:44265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008309 {source="MONDO:equivalentTo"}
xref: NCIT:C84881 {source="MONDO:equivalentTo"}
xref: SCTID:35265002 {source="MONDO:equivalentTo"}
xref: UMLS:C0024633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44265"}
is_a: MONDO:0002254 {source="NCIT:C84881"} ! syndromic disease
relationship: disease_has_location UBERON:0007650 ! esophagogastric junction
relationship: excluded_subClassOf MONDO:0002243 {source="https://orcid.org/0000-0001-5208-3432"} ! hemorrhagic disease
relationship: excluded_subClassOf MONDO:0002254 {source="NCIT:C84881", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5660" xsd:anyURI

[Term]
id: MONDO:0043251
name: odontoma
def: "A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported." [NCIT:C3287]
synonym: "ameloblastic fibro-odontoma" RELATED [MESH:D009810]
synonym: "ameloblastic fibro-odontomas" RELATED [MESH:D009810]
synonym: "compound odontoma" RELATED [MESH:D009810]
synonym: "compound odontomas" RELATED [MESH:D009810]
synonym: "fibro odontoma" RELATED [MESH:D009810]
synonym: "fibro odontoma, ameloblastic" RELATED [MESH:D009810]
synonym: "fibro-odontoma" EXACT [NCIT:C3287]
synonym: "fibro-odontoma, ameloblastic" RELATED [MESH:D009810]
synonym: "fibro-odontomas" RELATED [MESH:D009810]
synonym: "fibro-odontomas, ameloblastic" RELATED [MESH:D009810]
synonym: "fibroodontoma" EXACT [MESH:D009810, NCIT:C3287]
synonym: "fibroodontomas" RELATED [MESH:D009810]
synonym: "odontoma" EXACT [NCIT:C3287]
synonym: "odontoma, benign" EXACT [NCIT:C3287]
synonym: "odontoma, compound" RELATED [MESH:D009810]
synonym: "odontomas" RELATED [MESH:D009810]
synonym: "odontomas, compound" RELATED [MESH:D009810]
xref: ICDO:9280/0 {source="NCIT:C3287"}
xref: MEDGEN:45181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009810 {source="MONDO:equivalentTo"}
xref: NCIT:C3287 {source="MONDO:equivalentTo"}
xref: UMLS:C0028882 {source="MEDGEN:45181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006499 {source="NCIT:C3287"} ! hamartoma
relationship: disease_has_location UBERON:0011595 ! jaw region
relationship: excluded_subClassOf MONDO:0021192 {source="MESH:D009810", source="https://orcid.org/0000-0001-5208-3432"} ! odontogenic neoplasm

[Term]
id: MONDO:0043254
name: papular urticaria
synonym: "bullous papular urticaria - type" RELATED [GARD:0007322, MESH:C537169]
synonym: "lichen urticatus" RELATED []
synonym: "papular urticaria" EXACT []
synonym: "prurigo simplex" EXACT []
synonym: "strophulus" RELATED []
synonym: "urticaria papulosa of hebra" RELATED []
xref: MEDGEN:78091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537169 {source="MONDO:equivalentTo"}
xref: SCTID:55608001 {source="MONDO:equivalentTo"}
xref: UMLS:C0263352 {source="MEDGEN:78091", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005492 {source="MESH:C537169"} ! urticaria
is_a: MONDO:0006617 {source="MESH:C537169"} ! vesiculobullous skin disease

[Term]
id: MONDO:0043257
name: pemphigus and fogo selvagem
subset: gard_rare {source="GARD:7353", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:636955"}
subset: orphanet_rare {source="Orphanet:636955"}
subset: rare
synonym: "amendola's syndrome" RELATED []
synonym: "Brazilian pemphigus" RELATED [GARD:0007353, MESH:C535551]
synonym: "Brazilian pemphigus foliaceus" EXACT [GARD:0007353, MESH:C535551]
synonym: "endemic pemphigus foliaceus" RELATED [GARD:0007353, MESH:C535551, Orphanet:636955]
synonym: "fogo selvagem" RELATED []
synonym: "FS" RELATED ABBREVIATION [GARD:0007353]
synonym: "South American pemphigus" RELATED [GARD:0007353, MESH:C535551]
synonym: "wild fire" RELATED []
synonym: "wildfire pemphigus" RELATED []
xref: GARD:7353 {source="MONDO:GARD"}
xref: HGNC:3048 {source="GARD:0007353"}
xref: MEDGEN:120470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535551 {source="MONDO:equivalentTo"}
xref: Orphanet:636955 {source="MONDO:equivalentTo"}
xref: SCTID:46459009 {source="MONDO:equivalentTo"}
xref: UMLS:C0263314 {source="MEDGEN:120470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006594 {source="MESH:C535551"} ! pemphigus
is_a: MONDO:0019324 ! pemphigus foliaceus

[Term]
id: MONDO:0043264
name: post-traumatic epilepsy
def: "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)" [MESH:D004834]
synonym: "concussive convulsion" RELATED [MESH:D004834]
synonym: "concussive convulsions" RELATED [MESH:D004834]
synonym: "convulsion, concussive" RELATED [MESH:D004834]
synonym: "convulsions, concussive" RELATED [MESH:D004834]
synonym: "disorder, post-traumatic seizure" RELATED [MESH:D004834]
synonym: "disorders, post-traumatic seizure" RELATED [MESH:D004834]
synonym: "early post traumatic seizures" RELATED [MESH:D004834]
synonym: "early post-traumatic seizure" RELATED [MESH:D004834]
synonym: "early post-traumatic seizures" RELATED [MESH:D004834]
synonym: "Epilepsies, post-traumatic" RELATED [MESH:D004834]
synonym: "Epilepsies, traumatic" RELATED [MESH:D004834]
synonym: "epilepsy, post traumatic" RELATED [MESH:D004834]
synonym: "epilepsy, traumatic" RELATED [MESH:D004834]
synonym: "impact seizure" RELATED [MESH:D004834]
synonym: "impact seizures" RELATED [MESH:D004834]
synonym: "late post traumatic seizures" RELATED [MESH:D004834]
synonym: "late post-traumatic seizure" RELATED [MESH:D004834]
synonym: "late post-traumatic seizures" RELATED [MESH:D004834]
synonym: "post traumatic seizure disorder" RELATED [MESH:D004834]
synonym: "post-traumatic Epilepsies" RELATED [MESH:D004834]
synonym: "post-traumatic epilepsy" EXACT [MESH:D004834]
synonym: "post-traumatic seizure disorder" RELATED [MESH:D004834]
synonym: "post-traumatic seizure disorders" RELATED [MESH:D004834]
synonym: "post-traumatic seizure, early" RELATED [MESH:D004834]
synonym: "post-traumatic seizure, late" RELATED [MESH:D004834]
synonym: "post-traumatic seizures, early" RELATED [MESH:D004834]
synonym: "post-traumatic seizures, late" RELATED [MESH:D004834]
synonym: "PTE - post-traumatic epilepsy" RELATED []
synonym: "seizure disorder, post traumatic" RELATED [MESH:D004834]
synonym: "seizure disorder, post-traumatic" RELATED [MESH:D004834]
synonym: "seizure disorders, post-traumatic" RELATED [MESH:D004834]
synonym: "seizure, early post-traumatic" RELATED [MESH:D004834]
synonym: "seizure, late post-traumatic" RELATED [MESH:D004834]
synonym: "seizures, early post-traumatic" RELATED [MESH:D004834]
synonym: "seizures, late post-traumatic" RELATED [MESH:D004834]
synonym: "traumatic Epilepsies" RELATED [MESH:D004834]
synonym: "traumatic epilepsy" RELATED [MESH:D004834]
xref: MEDGEN:4991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004834 {source="MONDO:equivalentTo"}
xref: SCTID:75023009 {source="MONDO:equivalentTo"}
xref: UMLS:C0014557 {source="MEDGEN:4991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="MESH:D004834"} ! epilepsy

[Term]
id: MONDO:0043267
name: rheumatoid vasculitis
def: "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex." [MESH:D056653]
subset: gard_rare {source="GARD:7577", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "rheumatoid Vasculitides" RELATED [MESH:D056653]
synonym: "rheumatoid vasculitis" EXACT []
synonym: "Vasculitides, rheumatoid" RELATED [MESH:D056653]
synonym: "vasculitis, rheumatoid" RELATED [MESH:D056653]
xref: GARD:7577 {source="MONDO:GARD"}
xref: MEDGEN:69122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D056653 {source="MONDO:equivalentTo"}
xref: NANDO:1200265 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:400054000 {source="MONDO:equivalentTo"}
xref: UMLS:C0240903 {source="MEDGEN:69122", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008383 {source="MESH:D056653"} ! rheumatoid arthritis
is_a: MONDO:0030703 ! autoimmune vasculitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0043275
name: TORCH syndrome
def: "A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly." [NCIT:C98609]
synonym: "TORCH infection" EXACT [NCIT:C98609]
synonym: "TORCH syndrome" EXACT [NCIT:C98609]
synonym: "torch syndrome" EXACT []
synonym: "Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection" RELATED []
synonym: "toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome" EXACT [NCIT:C98609]
synonym: "toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome" RELATED []
synonym: "toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome" RELATED []
xref: DOID:0080835 {source="MONDO:equivalentTo"}
xref: MEDGEN:78715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98609 {source="MONDO:equivalentTo"}
xref: SCTID:41679006 {source="MONDO:equivalentTo"}
xref: UMLS:C0270173 {source="MEDGEN:78715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C98609"} ! syndromic disease
relationship: disease_arises_from_feature MONDO:0005550 ! infectious disease

[Term]
id: MONDO:0043277
name: mosaic trisomy 6
def: "Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997)." [http://mosaicism.bcchr.ca/specific/trisomy6.htm]
comment: Editor notes: TODO DPs for partial/complete/mosaic
subset: gard_rare {source="GARD:7815", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "trisomy 6" RELATED [NCIT:C36475]
synonym: "trisomy 6 mosaicism" RELATED [GARD:0007815]
xref: GARD:7815 {source="MONDO:GARD"}
xref: MEDGEN:96603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36475 {source="MONDO:relatedTo"}
xref: SCTID:205647005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432414 {source="MEDGEN:96603", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr6 ! chromosome 6 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0043280
name: Wallerian degeneration
def: "A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness." [NCIT:C85223]
synonym: "Degeneration, Wallerian" RELATED [MESH:D014855]
synonym: "Wallerian Degeneration" EXACT [NCIT:C85223]
synonym: "Wallerian degeneration of the pyramidal tract" RELATED [GARD:0007875]
xref: MEDGEN:12132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014855 {source="MONDO:equivalentTo"}
xref: NCIT:C85223 {source="MONDO:equivalentTo"}
xref: UMLS:C0043020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12132"}
is_a: MONDO:0005071 {source="NCIT:C85223"} ! nervous system disorder
relationship: disease_has_location UBERON:0006134 ! nerve fiber
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2312" xsd:anyURI

[Term]
id: MONDO:0043283
name: silicosiderosis
subset: gard_rare {source="GARD:8372", source="MONDO:GARD"}
subset: rare
synonym: "hematite miners' lung disease" RELATED []
synonym: "hematite pneumoconiosis" RELATED [GARD:0008372, MESH:C537337]
synonym: "iron miners lung" RELATED [GARD:0008372, MESH:C537337]
synonym: "siderosilicosis" EXACT []
synonym: "silicosiderosis" EXACT []
xref: GARD:8372 {source="MONDO:GARD"}
xref: MEDGEN:5480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537337 {source="MONDO:equivalentTo"}
xref: SCTID:34004002 {source="MONDO:equivalentTo"}
xref: UMLS:C0018929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5480"}
is_a: MONDO:0005960 {source="MESH:C537337"} ! silicosis
intersection_of: MONDO:0015926 ! pneumoconiosis
intersection_of: realized_in_response_to_stimulus CHEBI:50818 ! hematite

[Term]
id: MONDO:0043287
name: superior vena cava syndrome
def: "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache." [NCIT:C3396]
synonym: "superior vena cava obstruction" RELATED [GARD:0009264, MESH:D013479]
synonym: "superior vena cava syndrome" EXACT [NCIT:C3396]
synonym: "superior vena cava thrombosis" RELATED [MESH:D013479]
synonym: "SVC obstruction" RELATED [GARD:0009264]
synonym: "SVC syndrome" RELATED [GARD:0009264]
synonym: "SVCS" RELATED ABBREVIATION [GARD:0009264]
xref: MEDGEN:52576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013479 {source="MONDO:equivalentTo"}
xref: NCIT:C3396 {source="MONDO:equivalentTo"}
xref: SCTID:63363004 {source="MONDO:equivalentTo"}
xref: UMLS:C0038833 {source="MEDGEN:52576", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C3396"} ! syndromic disease
is_a: MONDO:0005385 {source="MESH:D013479"} ! vascular disorder

[Term]
id: MONDO:0043291
name: Rokitansky-Aschoff sinuses of the gallbladder
def: "An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones." [MESH:C535869]
synonym: "Aschoff-Rokitansky sinuses" EXACT []
synonym: "intramural diverticulosis of the gallbladder" RELATED [GARD:0009419, MESH:C535869]
synonym: "Rokitansky-Aschoff sinuses" RELATED [GARD:0009419, MESH:C535869]
xref: MEDGEN:78636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535869 {source="MONDO:equivalentTo"}
xref: SCTID:22149007 {source="MONDO:equivalentTo"}
xref: UMLS:C0267892 {source="MEDGEN:78636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004868 {source="MESH:C535869/inferred"} ! biliary tract disorder
relationship: disease_has_location UBERON:0002110 ! gallbladder
relationship: excluded_subClassOf MONDO:0004647 {source="MESH:C535869", source="https://orcid.org/0000-0001-5208-3432"} ! in situ carcinoma

[Term]
id: MONDO:0043294
name: linear scleroderma
def: "A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area." [NCIT:C116780]
subset: gard_rare {source="GARD:9513", source="MONDO:GARD"}
subset: rare
synonym: "en coup de saber" RELATED [GARD:0009513]
synonym: "en coup de sabre" RELATED OMO:0003005 []
synonym: "linear morphea" RELATED []
synonym: "linear Scleroderma" EXACT [NCIT:C116780]
synonym: "linear scleroderma" EXACT []
synonym: "Scleroderma, linear" RELATED [GARD:0009513]
xref: GARD:9513 {source="MONDO:GARD"}
xref: MEDGEN:75518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C116780 {source="MONDO:equivalentTo"}
xref: SCTID:22784002 {source="MONDO:equivalentTo"}
xref: UMLS:C0263409 {source="MEDGEN:75518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019562 {source="NCIT:C116780"} ! localized scleroderma

[Term]
id: MONDO:0043297
name: vibrio vulnificus infectious disease
def: "An disease or disorder caused by infection with Vibrio vulnificus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Vibrio vulnificus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Vibrio vulnificus disease or disorder" EXACT []
synonym: "vibrio vulnificus infection" EXACT []
synonym: "Vibrio vulnificus infectious disease" EXACT []
synonym: "vibrio vulnificus infectious disease" EXACT []
xref: MEDGEN:220886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536348 {source="MONDO:equivalentTo"}
xref: SCTID:402965002 {source="MONDO:equivalentTo"}
xref: UMLS:C1274377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220886"}
is_a: MONDO:0007014 {source="MESH:C536348", source="MONDO:Redundant"} ! vibrio infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:672 ! Vibrio vulnificus

[Term]
id: MONDO:0043300
name: actinic cheilitis
synonym: "actinic cheilitis" EXACT []
synonym: "actinic cheilosis" RELATED [GARD:0009619, MESH:C535669]
synonym: "solar keratosis of lip" RELATED []
xref: MEDGEN:75625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535669 {source="MONDO:equivalentTo"}
xref: NCIT:C183562 {source="MONDO:equivalentTo"}
xref: SCTID:46795000 {source="MONDO:equivalentTo"}
xref: UMLS:C0267026 {source="MEDGEN:75625", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002102 {source="MESH:C535669"} ! cheilitis

[Term]
id: MONDO:0043303
name: hyperacusis
def: "A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds." [NCIT:C116366]
synonym: "auditory hyperesthesia" RELATED [MESH:D012001]
synonym: "auditory Hyperesthesias" RELATED [MESH:D012001]
synonym: "disturbance, loudness perception" RELATED [MESH:D012001]
synonym: "disturbances, loudness perception" RELATED [MESH:D012001]
synonym: "hyperacuses" RELATED [MESH:D012001]
synonym: "hyperacusia" RELATED [MESH:D012001]
synonym: "hyperacusias" RELATED [MESH:D012001]
synonym: "hyperacusis" EXACT [NCIT:C116366]
synonym: "hyperesthesia, auditory" RELATED [MESH:D012001]
synonym: "hyperesthesias, auditory" RELATED [MESH:D012001]
synonym: "loudness perception disturbance" RELATED [MESH:D012001]
synonym: "loudness perception disturbances" RELATED [MESH:D012001]
synonym: "loudness recruitment" RELATED [MESH:D012001]
synonym: "loudness Recruitments" RELATED [MESH:D012001]
synonym: "low tolerance to sound" RELATED [GARD:0009655]
synonym: "oversensitive hearing" RELATED []
synonym: "perception disturbance, loudness" RELATED [MESH:D012001]
synonym: "perception disturbances, loudness" RELATED [MESH:D012001]
synonym: "phonophobia" RELATED [MESH:D012001]
synonym: "Phonophobias" RELATED [MESH:D012001]
synonym: "recruitment, loudness" RELATED [MESH:D012001]
synonym: "sounds seem unnaturally loud" RELATED []
xref: MEDGEN:20497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012001 {source="MONDO:equivalentTo"}
xref: NCIT:C116366 {source="MONDO:equivalentTo"}
xref: SCTID:25289003 {source="MONDO:equivalentTo"}
xref: UMLS:C0034880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20497"}
is_a: MONDO:0021205 {source="NCIT:C116366/inferred"} ! disorder of ear
is_a: MONDO:0021945 {source="MESH:D012001", source="NCIT:C116366/inferred"} ! hearing disorder
is_a: MONDO:0024422 {source="NCIT:C116366"} ! auditory perceptual disorders

[Term]
id: MONDO:0043310
name: amaurosis fugax
def: "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" [MESH:D020757]
synonym: "amaurosis fugax" EXACT [NCIT:C84550]
synonym: "amaurosis fugax (one sided temporary vision loss)" RELATED []
synonym: "blindness, monocular, transient" RELATED [MESH:D020757]
synonym: "blindness, transient monocular" RELATED [MESH:D020757]
synonym: "momentary blindness" RELATED []
synonym: "monocular blindness, transient" RELATED [MESH:D020757]
synonym: "transient monocular blindness" RELATED [GARD:0009660, MESH:D020757]
xref: MEDGEN:57702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020757 {source="MONDO:equivalentTo"}
xref: NCIT:C84550 {source="MONDO:equivalentTo"}
xref: SCTID:88032003 {source="MONDO:equivalentTo"}
xref: UMLS:C0149793 {source="MEDGEN:57702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001941 {source="MESH:D020757"} ! blindness (disorder)
relationship: disease_arises_from_feature MONDO:0001538 ! retinal ischemia

[Term]
id: MONDO:0043314
name: aquarium granuloma
def: "A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure." [Wikipedia:Aquarium_granuloma]
synonym: "aquarium granuloma" EXACT []
synonym: "fish tank granuloma" EXACT [GARD:0009712, MESH:C535526]
synonym: "M. marinum" RELATED [GARD:0009712]
synonym: "Mycobacterium marinum caused skin disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Mycobacterium marinum infection" RELATED [GARD:0009712, MESH:C535526]
synonym: "Mycobacterium marinum skin disease" EXACT []
synonym: "swimming pool granuloma" RELATED []
xref: MEDGEN:78814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535526 {source="MONDO:equivalentTo"}
xref: SCTID:240417004 {source="MONDO:equivalentTo"}
xref: UMLS:C0275708 {source="MEDGEN:78814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1781 ! Mycobacterium marinum
relationship: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0043317
name: amyopathic dermatomyositis
def: "A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin." [GARD:0009907]
subset: gard_rare {source="GARD:9907", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:645617"}
subset: rare
synonym: "ADM" RELATED ABBREVIATION [GARD:0009907]
synonym: "amyopathic dermatomyositis" EXACT [Orphanet:645617]
synonym: "dermatomyositis sine myositis" EXACT [GARD:0009907]
xref: GARD:9907 {source="MONDO:GARD"}
xref: MEDGEN:96065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538250 {source="MONDO:equivalentTo"}
xref: NANDO:1200275 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:221 {source="GARD:0009907"}
xref: Orphanet:645617 {source="MONDO:equivalentTo"}
xref: SCTID:238935002 {source="MONDO:equivalentTo"}
xref: UMLS:C0406645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96065"}
is_a: MONDO:0016367 {source="MESH:C538250"} ! dermatomyositis

[Term]
id: MONDO:0043320
name: piriformis syndrome
def: "A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica." [NCIT:C85012]
subset: gard_rare {source="GARD:10026", source="MONDO:GARD"}
subset: rare
synonym: "deep gluteal syndrome" RELATED [GARD:0010026]
synonym: "hip socket neuropathy" RELATED [GARD:0010026]
synonym: "muscle syndrome, piriformis" RELATED [MESH:D055958]
synonym: "muscle syndromes, piriformis" RELATED [MESH:D055958]
synonym: "pelvic outlet syndrome" RELATED []
synonym: "piriformis muscle syndrome" EXACT [NCIT:C85012]
synonym: "piriformis muscle syndromes" RELATED [MESH:D055958]
synonym: "piriformis syndrome" EXACT [MESH:D055958, NCIT:C85012]
synonym: "piriformis syndromes" RELATED [MESH:D055958]
synonym: "Pseudosciatica" RELATED [GARD:0010026]
synonym: "pyriformis syndrome" RELATED [GARD:0010026]
synonym: "syndrome, piriformis" RELATED [MESH:D055958]
synonym: "syndrome, piriformis muscle" RELATED [MESH:D055958]
synonym: "syndromes, piriformis" RELATED [MESH:D055958]
synonym: "syndromes, piriformis muscle" RELATED [MESH:D055958]
synonym: "wallet sciatica" RELATED [GARD:0010026]
xref: GARD:10026 {source="MONDO:GARD"}
xref: MEDGEN:141601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055958 {source="MONDO:equivalentTo"}
xref: NCIT:C85012 {source="MONDO:equivalentTo"}
xref: SCTID:129179000 {source="MONDO:equivalentTo"}
xref: UMLS:C0458224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141601"}
is_a: MONDO:0002254 {source="NCIT:C85012"} ! syndromic disease
is_a: MONDO:0003615 {source="MESH:D055958"} ! nerve compression syndrome
is_a: MONDO:0006960 {source="MESH:D055958"} ! sciatic neuropathy
is_a: MONDO:0024333 ! sciatica
relationship: disease_has_feature MONDO:0021667 {source="MESH:D055958"} ! neuralgia

[Term]
id: MONDO:0043327
name: cerebrospinal fluid leak
def: "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)." [MESH:D065634]
synonym: "cerebrospinal fluid drainage" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid drainage, post traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid drainage, post-traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid drainage, spontaneous" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid drainage, traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid Drainages" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leak" EXACT []
synonym: "cerebrospinal fluid leak, post traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leak, post-traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leak, spontaneous" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leak, traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage, post traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage, post-traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage, spontaneous" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid leakage, traumatic" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid Leakages" RELATED [MESH:D065634]
synonym: "cerebrospinal fluid Leaks" RELATED [MESH:D065634]
synonym: "csf - cerebrospinal fluid leak" RELATED []
synonym: "CSF leak" RELATED [GARD:0010166]
synonym: "CSF otorrhea" RELATED [GARD:0010166]
synonym: "CSF rhinorrhea" RELATED [GARD:0010166]
synonym: "drainage, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "Drainages, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "fluid drainage, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid Drainages, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid leak, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid leakage, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid Leakages, cerebrospinal" RELATED [MESH:D065634]
synonym: "fluid Leaks, cerebrospinal" RELATED [MESH:D065634]
synonym: "leak, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "leakage, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "Leakages, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "Leaks, cerebrospinal fluid" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak, post traumatic" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak, post-traumatic" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak, spontaneous" RELATED [MESH:D065634]
synonym: "spinal cerebrospinal fluid leak, traumatic" RELATED [MESH:D065634]
synonym: "spinal CSF leak" RELATED [GARD:0010166]
xref: MEDGEN:9695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065634 {source="MONDO:equivalentTo"}
xref: SCTID:230744007 {source="MONDO:equivalentTo"}
xref: UMLS:C0023182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9695"}
is_a: MONDO:0000001 ! disease
is_a: MONDO:0002602 ! central nervous system disorder
relationship: disease_has_location UBERON:0001359 ! cerebrospinal fluid

[Term]
id: MONDO:0043330
name: Mirizzi syndrome
def: "Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever." [MESH:D057792]
subset: gard_rare {source="GARD:10177", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome
subset: ordo_disorder {source="Orphanet:521219"}
subset: orphanet_rare {source="Orphanet:521219"}
subset: rare
synonym: "hepatic duct dystonia syndrome" RELATED []
synonym: "Mirizzi syndrome" EXACT []
synonym: "Mirizzi's syndrome" RELATED [GARD:0010177, MESH:D057792]
synonym: "mirizzi's syndrome" EXACT []
synonym: "Mirizzis syndrome" RELATED [MESH:D057792]
synonym: "syndrome, Mirizzi" RELATED [MESH:D057792]
synonym: "syndrome, Mirizzi's" RELATED [MESH:D057792]
xref: GARD:10177 {source="MONDO:GARD"}
xref: MEDGEN:120605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057792 {source="MONDO:equivalentTo"}
xref: Orphanet:521219 {source="MONDO:equivalentTo"}
xref: SCTID:4283007 {source="MONDO:equivalentTo"}
xref: UMLS:C0267878 {source="MEDGEN:120605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001751 {source="MESH:D057792"} ! cholestasis
is_a: MONDO:0006757 ! extrahepatic cholestasis

[Term]
id: MONDO:0043339
name: lathyrism
def: "A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus." [MESH:D007842]
synonym: "lathyrism" EXACT []
synonym: "Lathyrus species poisoning" EXACT []
synonym: "Neurolathyrism" RELATED [MESH:D007842]
synonym: "vetchling poisoning" RELATED []
xref: MESH:D007842 {source="MONDO:equivalentTo"}
xref: SCTID:5724005 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D007842/inferred"} ! poisoning

[Term]
id: MONDO:0043343
name: Chilaiditi syndrome
def: "Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." [MESH:D059269]
synonym: "anomaly, Chilaiditi" RELATED [MESH:D059269]
synonym: "anomaly, Chilaiditi's" RELATED [MESH:D059269]
synonym: "Chilaiditi anomaly" RELATED [MESH:D059269]
synonym: "Chilaiditi's anomaly" RELATED [MESH:D059269]
synonym: "Chilaiditi's syndrome" RELATED [MESH:D059269]
synonym: "chilaiditi's syndrome" RELATED []
synonym: "Chilaiditis anomaly" RELATED [MESH:D059269]
synonym: "Chilaiditis syndrome" RELATED [MESH:D059269]
synonym: "hepatodiaphragmatic colonic interposition" RELATED []
synonym: "subphrenic interposition syndrome" EXACT []
synonym: "syndrome, Chilaiditi" RELATED [MESH:D059269]
synonym: "syndrome, Chilaiditi's" RELATED [MESH:D059269]
xref: MEDGEN:452355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059269 {source="MONDO:equivalentTo"}
xref: SCTID:14911005 {source="MONDO:equivalentTo"}
xref: UMLS:C0267494 {source="MEDGEN:452355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003409 {source="MESH:D059269"} ! colonic disorder

[Term]
id: MONDO:0043346
name: progressive transformation of germinal centers
def: "Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma." [GARD:0010712]
comment: Editor note: represents a finding in NCIT
subset: gard_rare {source="GARD:10712", source="MONDO:GARD"}
subset: rare
synonym: "progressive transformation of Germinal centers" EXACT [NCIT:C38408]
synonym: "progressive transformation of Germinal centres" EXACT OMO:0003005 []
synonym: "PTGC" RELATED ABBREVIATION [GARD:0010712]
xref: GARD:10712 {source="MONDO:GARD"}
xref: MEDGEN:271018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C548085 {source="MONDO:equivalentTo"}
xref: NCIT:C38408 {source="MONDO:equivalentTo"}
xref: UMLS:C1514481 {source="MEDGEN:271018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005062 {source="MESH:C548085"} ! lymphoma

[Term]
id: MONDO:0043349
name: intravascular papillary endothelial hyperplasia
def: "A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present." [NCIT:C4391]
subset: ordo_disorder {source="Orphanet:673525"}
subset: orphanet_rare {source="Orphanet:673525"}
subset: rare
synonym: "intravascular papillary endothelial hyperplasia" EXACT [NCIT:C4391]
synonym: "Masson lesion" EXACT [NCIT:C4391]
synonym: "Masson pseudotumor" EXACT [NCIT:C4391]
synonym: "Masson's pseudoangiosarcoma" RELATED [GARD:0010733]
synonym: "Masson's pseudosarcoma" EXACT [NCIT:C4391]
synonym: "masson's pseudosarcoma" RELATED []
synonym: "Masson's pseudotumor" EXACT [NCIT:C4391]
synonym: "Masson's tumor" RELATED [GARD:0010733]
synonym: "Masson's tumour" RELATED OMO:0003005 []
synonym: "Masson's vegetant hemangioma" EXACT [NCIT:C4391]
synonym: "Masson's vegetant intravascular hemangio-endothelioma" RELATED [GARD:0010733]
synonym: "papillary endothelial hyperplasia" EXACT [NCIT:C4391]
xref: MEDGEN:91005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4391 {source="MONDO:equivalentTo"}
xref: Orphanet:673525 {source="MONDO:equivalentTo"}
xref: SCTID:238770007 {source="MONDO:equivalentTo"}
xref: UMLS:C0343083 {source="MONDO:equivalentTo", source="MEDGEN:91005", source="MONDO:MEDGEN"}
is_a: MONDO:0024461 {source="NCIT:C4391"} ! angiomatosis

[Term]
id: MONDO:0043352
name: fournier gangrene
def: "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease." [MESH:D018934]
synonym: "Fournier disease" RELATED [MESH:D018934]
synonym: "fournier gangrene" EXACT []
synonym: "Fournier's disease" RELATED [MESH:D018934]
synonym: "Fournier's gangrene" RELATED [GARD:0010912, MESH:D018934]
synonym: "fournier's gangrene" EXACT []
synonym: "Fourniers disease" RELATED [MESH:D018934]
synonym: "Fourniers gangrene" RELATED [MESH:D018934]
synonym: "gangrene, Fournier" RELATED [MESH:D018934]
synonym: "gangrene, Fournier's" RELATED [MESH:D018934]
xref: MEDGEN:65967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018934 {source="MONDO:equivalentTo"}
xref: SCTID:398318005 {source="MONDO:equivalentTo"}
xref: UMLS:C0238419 {source="MEDGEN:65967", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003150 {source="MESH:D018934"} ! male reproductive system disorder
is_a: MONDO:0005113 {source="MESH:D018934"} ! bacterial infectious disease

[Term]
id: MONDO:0043355
name: collagenous gastritis
def: "A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis." [NCIT:C122082]
synonym: "collagenous gastritis" EXACT [NCIT:C122082]
xref: MEDGEN:872908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122082 {source="MONDO:equivalentTo"}
xref: SCTID:711499009 {source="MONDO:equivalentTo"}
xref: UMLS:C4040043 {source="MEDGEN:872908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004966 {source="NCIT:C122082"} ! gastritis

[Term]
id: MONDO:0043358
name: engraftment syndrome
def: "A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation." [NCIT:C63324]
subset: gard_rare {source="GARD:11909", source="MONDO:GARD"}
subset: rare
synonym: "engraftment syndrome" EXACT [NCIT:C63324]
xref: GARD:11909 {source="MONDO:GARD"}
xref: MEDGEN:214709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C63324 {source="MONDO:equivalentTo"}
xref: SCTID:426768001 {source="MONDO:equivalentTo"}
xref: UMLS:C0919746 {source="MEDGEN:214709", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0700222 {source="NCIT:C63324"} ! disease related to hematopoietic stem cell transplant

[Term]
id: MONDO:0043361
name: May-Thurner syndrome
def: "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation." [MESH:D062108]
subset: ordo_disorder {source="Orphanet:675404"}
subset: orphanet_rare {source="Orphanet:675404"}
subset: rare
synonym: "Cockett syndrome" RELATED [GARD:0012141, MESH:D062108]
synonym: "compression syndrome, Iliocaval" RELATED [MESH:D062108]
synonym: "compression syndromes, Iliocaval" RELATED [MESH:D062108]
synonym: "Iliac vein compression syndrome" RELATED [GARD:0012141, MESH:D062108]
synonym: "iliac vein compression syndrome" EXACT []
synonym: "Iliocaval compression syndrome" RELATED [GARD:0012141, MESH:D062108]
synonym: "Iliocaval compression syndromes" RELATED [MESH:D062108]
synonym: "May Thurner syndrome" RELATED [GARD:0012141, MESH:D062108]
synonym: "May-Thurner syndrome" EXACT []
synonym: "syndrome, Cockett" RELATED [MESH:D062108]
synonym: "syndrome, Iliocaval compression" RELATED [MESH:D062108]
synonym: "syndrome, May-Thurner" RELATED [MESH:D062108]
synonym: "syndromes, Iliocaval compression" RELATED [MESH:D062108]
xref: MEDGEN:473753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D062108 {source="MONDO:equivalentTo"}
xref: Orphanet:675404 {source="MONDO:equivalentTo"}
xref: SCTID:448804008 {source="MONDO:equivalentTo"}
xref: UMLS:C3165062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:473753"}
is_a: MONDO:0005294 {source="MESH:D062108"} ! peripheral vascular disease

[Term]
id: MONDO:0043364
name: eosinophil peroxidase deficiency
def: "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix." [OMIM:261500]
subset: gard_rare {source="GARD:12361", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "eosinophil peroxidase deficiency" EXACT [OMIM:261500, OMIM:genemap2]
synonym: "eosinophil peroxidase deficiency, Partial" RELATED [OMIM:261500]
synonym: "eosinophil peroxidase deficiency, partial" RELATED [GARD:0012361, MESH:C564893]
synonym: "EPXD" RELATED ABBREVIATION [GARD:0012361, OMIM:261500]
synonym: "peroxidase and phospholipid deficiency in eosinophils" RELATED [GARD:0012361, MESH:C564893, OMIM:261500]
synonym: "Presentey anomaly" RELATED [GARD:0012361, OMIM:261500]
synonym: "presentey anomaly" RELATED []
xref: GARD:12361 {source="MONDO:GARD"}
xref: MEDGEN:342386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564893 {source="MONDO:equivalentTo"}
xref: OMIM:261500 {source="MONDO:equivalentTo", source="GARD:0012361"}
xref: SCTID:711160007 {source="MONDO:equivalentTo"}
xref: UMLS:C1850000 {source="MEDGEN:342386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0004805 {source="MESH:C564893"} ! leukocyte disorder
is_a: MONDO:0006025 ! autosomal recessive disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0043370
name: secondary adrenal insufficiency
def: "A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex." [NCIT:C62602]
synonym: "central adrenal insufficiency" EXACT [NCIT:C62602]
synonym: "central Hypoadrenalism" EXACT [NCIT:C62602]
synonym: "hypocortisolism secondary to another disorder" EXACT []
synonym: "secondary adrenal insufficiency" EXACT [NCIT:C62602]
synonym: "secondary adrenocortical insufficiency" RELATED []
synonym: "secondary hypocortisolism" RELATED []
xref: MEDGEN:184925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C62602 {source="MONDO:equivalentTo"}
xref: SCTID:16685009 {source="MONDO:equivalentTo"}
xref: UMLS:C0948387 {source="MEDGEN:184925", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000004 {source="NCIT:C62602"} ! adrenocortical insufficiency

[Term]
id: MONDO:0043373
name: sudden sensorineural hearing loss
def: "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning." [MESH:D003639]
subset: gard_rare {source="GARD:12927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:90059"}
subset: orphanet_rare {source="Orphanet:90059"}
subset: rare
synonym: "acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma" RELATED [GARD:0012927]
synonym: "deafness, sudden" RELATED [MESH:D003639]
synonym: "sudden deafness" RELATED [GARD:0012927, MESH:D003639]
synonym: "sudden hearing loss" BROAD [MESH:D003639]
synonym: "sudden sensorineural hearing loss" EXACT []
xref: GARD:12927 {source="MONDO:GARD"}
xref: MEDGEN:907022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003639 {source="MONDO:equivalentTo"}
xref: Orphanet:90059 {source="MONDO:equivalentTo", source="GARD:0012927"}
xref: SCTID:715239002 {source="MONDO:equivalentTo"}
xref: UMLS:C4275242 {source="MEDGEN:907022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005365 {source="MESH:D003639"} ! hearing loss disorder
is_a: MONDO:0020677 ! sudden hearing loss disorder
intersection_of: MONDO:0020678 ! sensorineural hearing loss disorder
intersection_of: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0043377
name: juvenile spondyloarthropathy
def: "A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood." [NCIT:C114347]
synonym: "JSpA" EXACT [NCIT:C114347]
synonym: "juvenile Spondyloarthritis" EXACT [NCIT:C114347]
synonym: "juvenile spondyloarthropathy" EXACT [NCIT:C114347]
xref: MEDGEN:592564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114347 {source="MONDO:equivalentTo"}
xref: SCTID:239796000 {source="GARD:0012939"}
xref: SCTID:239806000 {source="MONDO:equivalentTo"}
xref: UMLS:C0409676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:592564"}
is_a: MONDO:0005095 {source="NCIT:C114347"} ! spondyloarthropathy
is_a: MONDO:0005306 ! ankylosing spondylitis

[Term]
id: MONDO:0043424
name: digestive system infectious disorder
def: "A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system." [NCIT:C35503]
subset: otar {source="MONDO:OTAR"}
synonym: "digestive system infection" EXACT [NCIT:C35503]
synonym: "gastrointestinal infection" EXACT [NCIT:C35503]
synonym: "gastrointestinal system infection" EXACT [NCIT:C35503]
synonym: "infection of gastrointestinal tract" RELATED []
xref: NCIT:C35503 {source="MONDO:equivalentTo"}
xref: SCTID:715852004 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system

[Term]
id: MONDO:0043452
name: chromosome 8, trisomy
def: "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." [NCIT:C36396]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome 8 duplication" RELATED [MESH:C537942]
synonym: "trisomy 8" RELATED [MESH:C537942, NCIT:C36396]
xref: MEDGEN:98158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537942 {source="MONDO:equivalentTo"}
xref: NCIT:C36396 {source="MONDO:relatedTo"}
xref: SCTID:205649008 {source="MONDO:equivalentTo"}
xref: UMLS:C0432412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98158"}
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human)

[Term]
id: MONDO:0043455
name: humoral hypercalcemia of malignancy
def: "Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function." [NCIT:C3496]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hhm" RELATED []
synonym: "humoral hypercalcemia of malignancy" EXACT []
synonym: "hypercalcemia of malignancy" EXACT [NCIT:C3496]
synonym: "mahc" RELATED []
synonym: "malignancy associated hypercalcemia" RELATED []
synonym: "malignant hypercalcemia" RELATED []
xref: MEDGEN:56210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562390 {source="MONDO:equivalentTo"}
xref: NCIT:C3496 {source="MONDO:equivalentTo"}
xref: SCTID:47709007 {source="MONDO:equivalentTo"}
xref: UMLS:C0149911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56210"}
is_a: MONDO:0001566 {source="MESH:C562390", source="NCIT:C3496"} ! hypercalcemia disease
is_a: MONDO:0021073 {source="MESH:C562390"} ! paraneoplastic syndrome
is_a: MONDO:0700253 {source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic hematological syndrome

[Term]
id: MONDO:0043458
name: radiation injury
def: "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES." [MESH:D011832]
synonym: "Injuries, radiation" RELATED [MESH:D011832]
synonym: "injury, radiation" RELATED [MESH:D011832]
synonym: "radiation injury" EXACT [MESH:D011832]
synonym: "radiation sickness" RELATED [MESH:D011832]
synonym: "radiation Sicknesses" RELATED [MESH:D011832]
synonym: "radiation syndrome" RELATED [MESH:D011832]
synonym: "radiation syndromes" RELATED [MESH:D011832]
synonym: "sickness, radiation" RELATED [MESH:D011832]
synonym: "Sicknesses, radiation" RELATED [MESH:D011832]
synonym: "syndrome, radiation" RELATED [MESH:D011832]
synonym: "syndromes, radiation" RELATED [MESH:D011832]
xref: ICD10CM:L55-L59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:T66-T78 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D011832 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0021178 ! injury
intersection_of: realized_in_response_to ECTO:0000002 ! exposure to electromagnetic radiation

[Term]
id: MONDO:0043459
name: radiation-induced disorder
def: "A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas." [NCIT:C26684]
subset: disease_grouping
subset: gard_rare {source="GARD:22139", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:521132"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "abnormalities, radiation induced" RELATED [MESH:D000016]
synonym: "Abnormality, radiation-induced" RELATED [MESH:D000016]
synonym: "radiation induced abnormalities" RELATED [MESH:D000016]
synonym: "radiation-induced abnormalities" EXACT [NCIT:C26684]
synonym: "radiation-induced Abnormality" EXACT [MESH:D000016, NCIT:C26684]
synonym: "radiation-induced disorder" EXACT [NCIT:C26684]
xref: EFO:0009565 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:22139 {source="MONDO:GARD"}
xref: MEDGEN:734320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000016 {source="MONDO:equivalentTo"}
xref: NCIT:C26684 {source="MONDO:equivalentTo"}
xref: Orphanet:521132 {source="MONDO:equivalentTo"}
xref: SCTID:85983004 {source="MONDO:equivalentTo"}
xref: UMLS:C1527225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:734320"}
is_a: MONDO:0000001 {source="https://orcid.org/0000-0002-4142-7153"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: realized_in_response_to ECTO:0000002 ! exposure to electromagnetic radiation

[Term]
id: MONDO:0043465
name: achlorhydria
def: "Absence of hydrochloric acid in the gastric juice." [NCIT:C2850]
synonym: "absent gastric acidity" RELATED []
synonym: "achlorhydria" EXACT [NCIT:C2850]
synonym: "achylia gastrica" RELATED [MESH:D000126]
synonym: "gastric anacidity" RELATED []
synonym: "hypochlorhydria" RELATED [MESH:D000126]
xref: MEDGEN:1714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000126 {source="MONDO:equivalentTo"}
xref: NCIT:C2850 {source="MONDO:equivalentTo"}
xref: SCTID:47481007 {source="MONDO:equivalentTo"}
xref: UMLS:C0001075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714"}
is_a: MONDO:0004298 {source="MESH:D000126", source="NCIT:C2850/inferred"} ! stomach disorder

[Term]
id: MONDO:0043468
name: acne keloid
def: "A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent." [NCIT:C34346]
synonym: "acne keloid" EXACT [NCIT:C34346]
synonym: "acne Keloidalis" RELATED [MESH:D000153]
synonym: "acne keloids" RELATED [MESH:D000153]
synonym: "acne, keloidal" RELATED [MESH:D000153]
synonym: "acne, nuchal keloid" RELATED [MESH:D000153]
synonym: "Acnes, nuchal keloid" RELATED [MESH:D000153]
synonym: "Capillitii, dermatitis papillaris" RELATED [MESH:D000153]
synonym: "Capillitius, dermatitis papillaris" RELATED [MESH:D000153]
synonym: "dermatitis papillaris Capillitii" RELATED [MESH:D000153]
synonym: "dermatitis papillaris Capillitius" RELATED [MESH:D000153]
synonym: "folliculitis Keloidalis" RELATED [MESH:D000153]
synonym: "folliculitis Keloidalis nuchae" RELATED [MESH:D000153]
synonym: "keloid acne, nuchal" RELATED [MESH:D000153]
synonym: "keloid Acnes, nuchal" RELATED [MESH:D000153]
synonym: "keloid, acne" RELATED [MESH:D000153]
synonym: "keloidal acne" RELATED [MESH:D000153]
synonym: "keloidal Acnes" RELATED [MESH:D000153]
synonym: "keloidal folliculitis" EXACT [NCIT:C34346]
synonym: "Keloidalis nuchae, folliculitis" RELATED [MESH:D000153]
synonym: "Keloidalis nuchae, lichen" RELATED [MESH:D000153]
synonym: "keloids, acne" RELATED [MESH:D000153]
synonym: "lichen Keloidalis nuchae" RELATED [MESH:D000153]
synonym: "nuchae, folliculitis Keloidalis" RELATED [MESH:D000153]
synonym: "nuchae, lichen Keloidalis" RELATED [MESH:D000153]
synonym: "nuchal keloid acne" RELATED [MESH:D000153]
synonym: "nuchal keloid Acnes" RELATED [MESH:D000153]
synonym: "papillaris Capillitii, dermatitis" RELATED [MESH:D000153]
synonym: "papillaris Capillitius, dermatitis" RELATED [MESH:D000153]
xref: MEDGEN:1720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000153 {source="MONDO:equivalentTo"}
xref: NCIT:C34346 {source="MONDO:equivalentTo"}
xref: SCTID:238746008 {source="MONDO:equivalentTo"}
xref: UMLS:C0001145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720"}
is_a: MONDO:0005348 {source="MESH:D000153", source="NCIT:C34346"} ! keloid
is_a: MONDO:0006552 {source="MESH:D000153"} ! folliculitis

[Term]
id: MONDO:0043472
name: ectopic ACTH secretion syndrome
def: "A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)" [NCIT:C4387]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTH syndromes, ectopic" RELATED [MESH:D000182]
synonym: "ectopic ACTH secretion" EXACT [NCIT:C4387]
synonym: "ectopic ACTH secretion causing Cushing's syndrome" RELATED []
synonym: "ectopic ACTH secretion syndrome" EXACT [NCIT:C4387]
synonym: "ectopic ACTH syndrome" EXACT [MESH:D000182, NCIT:C4387]
synonym: "ectopic ACTH syndromes" RELATED [MESH:D000182]
synonym: "hypercortisolism due to nonpituitary tumor" EXACT []
synonym: "hypercortisolism due to nonpituitary tumour" EXACT OMO:0003005 []
synonym: "syndrome, ectopic ACTH" RELATED [MESH:D000182]
synonym: "syndromes, ectopic ACTH" RELATED [MESH:D000182]
xref: MEDGEN:103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000182 {source="MONDO:equivalentTo"}
xref: NANDO:2200351 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C4387 {source="MONDO:equivalentTo"}
xref: SCTID:626004 {source="MONDO:equivalentTo"}
xref: UMLS:C0001231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:103"}
is_a: MONDO:0021058 {source="NCIT:C4387/inferred"} ! neoplastic syndrome
relationship: disease_disrupts GO:0051458 ! corticotropin secretion
relationship: disease_has_location UBERON:0002369 ! adrenal gland

[Term]
id: MONDO:0043475
name: Adams-Stokes syndrome
def: "An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery." [NCIT:C79765]
synonym: "Adam Stokes attacks" RELATED [MESH:D000219]
synonym: "Adam-Stokes attacks" RELATED [MESH:D000219]
synonym: "Adams Stokes syndrome" RELATED [MESH:D000219]
synonym: "attacks, Adam-Stokes" RELATED [MESH:D000219]
synonym: "attacks, Stokes-Adams" RELATED [MESH:D000219]
synonym: "Stokes Adams attacks" RELATED [MESH:D000219]
synonym: "Stokes Adams syndrome" RELATED [MESH:D000219]
synonym: "Stokes-Adams attacks" RELATED [MESH:D000219]
synonym: "Stokes-Adams syndrome" EXACT [MESH:D000219, NCIT:C79765]
synonym: "Stokes-Adams-morgagni syndrome" RELATED []
synonym: "syndrome, Adams-Stokes" RELATED [MESH:D000219]
synonym: "syndrome, Stokes-Adams" RELATED [MESH:D000219]
xref: MEDGEN:1741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000219 {source="MONDO:equivalentTo"}
xref: NCIT:C79765 {source="MONDO:equivalentTo"}
xref: SCTID:46935006 {source="MONDO:equivalentTo"}
xref: UMLS:C0001396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1741"}
is_a: MONDO:0002254 {source="NCIT:C79765"} ! syndromic disease
is_a: MONDO:0008848 {source="MESH:D000219"} ! atrioventricular dissociation

[Term]
id: MONDO:0043479
name: adenoviridae infectious disease
def: "An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis." [NCIT:C115149]
comment: Editor note: check adenovirus vs adenoviridae
synonym: "Adenoviridae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Adenoviridae disease or disorder" EXACT []
synonym: "Adenoviridae infection" RELATED [MESH:D000257]
synonym: "Adenoviridae infectious disease" EXACT []
synonym: "adenoviridae infectious disease" EXACT []
synonym: "adenovirus infection" EXACT [MESH:D000257, NCIT:C115149]
synonym: "adenovirus infections" RELATED [MESH:D000257]
synonym: "disease caused by adenovirus" RELATED []
synonym: "disease due to adenovirus" EXACT []
synonym: "infection, Adenoviridae" RELATED [MESH:D000257]
synonym: "infection, adenovirus" RELATED [MESH:D000257]
synonym: "infections, Adenoviridae" RELATED [MESH:D000257]
synonym: "infections, adenovirus" RELATED [MESH:D000257]
xref: MEDGEN:1754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000257 {source="MONDO:equivalentTo"}
xref: NCIT:C115149 {source="MONDO:equivalentTo"}
xref: SCTID:25225006 {source="MONDO:equivalentTo"}
xref: UMLS:C0001486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1754"}
is_a: MONDO:0005108 {source="MESH:D000257/inferred", source="MONDO:Redundant", source="NCIT:C115149"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10508 ! disease has primary infectious agent Adenoviridae

[Term]
id: MONDO:0043494
name: arteritis
def: "An inflammatory process affecting an artery." [NCIT:C34399]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "arterial Inflammation" RELATED [MESH:D001167]
synonym: "Arteritides" RELATED [MESH:D001167]
synonym: "arteritis" EXACT [NCIT:C34399]
synonym: "artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "inflammation of artery" EXACT []
synonym: "Inflammation, arterial" RELATED [MESH:D001167]
xref: EFO:0009011 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0012089 {source="MONDO:otherHierarchy"}
xref: MEDGEN:13916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001167 {source="MONDO:equivalentTo"}
xref: NCIT:C34399 {source="MONDO:equivalentTo"}
xref: SCTID:52089001 {source="MONDO:equivalentTo"}
xref: UMLS:C0003860 {source="MEDGEN:13916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000473 {source="MONDO:Redundant", source="NCIT:C34399"} ! arterial disorder
is_a: MONDO:0018882 {source="EFO:0009011", source="MESH:D001167", source="MONDO:Redundant", source="NCIT:C34399"} ! vasculitis
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0001637 ! artery

[Term]
id: MONDO:0043510
name: brain injury
def: "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." [MESH:D001930]
subset: otar {source="MONDO:OTAR"}
synonym: "brain injury" EXACT [MONDO:patterns/location]
synonym: "brain trauma" RELATED [MESH:D001930]
synonym: "brain Traumas" RELATED [MESH:D001930]
synonym: "injury of brain" EXACT []
xref: MESH:D001930 {source="MONDO:equivalentTo"}
xref: Orphanet:90056 {source="MONDO:mondoIsBroaderThanSource"}
intersection_of: MONDO:0021178 ! injury
intersection_of: disease_has_location UBERON:0000955 ! brain

[Term]
id: MONDO:0043512
name: traumatic encephalopathy
def: "Encephalopathy resulting from trauma." [NCIT:C35542]
comment: Editor note: consider separate class for dementia
synonym: "dementia due to head trauma" NARROW []
synonym: "post-traumatic brain syndrome" NARROW []
synonym: "post-traumatic dementia" NARROW []
synonym: "traumatic encephalopathy" EXACT [NCIT:C35542]
xref: MEDGEN:536661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35542 {source="MONDO:equivalentTo"}
xref: SCTID:230282000 {source="MONDO:equivalentTo"}
xref: UMLS:C0236959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:536661"}
is_a: MONDO:0005560 {source="NCIT:C35542"} ! brain disorder
relationship: disease_arises_from_feature MONDO:0043510 ! brain injury

[Term]
id: MONDO:0043519
name: burn
def: "A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation." [NCIT:C34441]
synonym: "Burn" EXACT [NCIT:C34441]
synonym: "burn" EXACT [MESH:D002056]
synonym: "Burn(s)" EXACT [NCIT:C34441]
xref: ICD10CM:T20-T25 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:T26-T28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:T30-T32 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D002056 {source="MONDO:equivalentTo"}
xref: NCIT:C34441 {source="MONDO:equivalentTo"}
xref: SCTID:125666000 {source="MONDO:equivalentTo"}
is_a: MONDO:0021178 {source="MESH:D002056", source="NCIT:C34441"} ! injury

[Term]
id: MONDO:0043523
name: cadmium poisoning
def: "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." [MESH:D002105]
synonym: "cadmium poisoning" EXACT []
synonym: "cadmium Poisonings" RELATED [MESH:D002105]
synonym: "Itai Itai" RELATED [MESH:D002105]
synonym: "Itai-Itai" RELATED [MESH:D002105]
synonym: "poisoning, cadmium" RELATED [MESH:D002105]
synonym: "Poisonings, cadmium" RELATED [MESH:D002105]
xref: MESH:D002105 {source="MONDO:equivalentTo"}
xref: SCTID:3398004 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="MESH:D002105", source="MONDO:Redundant"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:22977 ! cadmium atom

[Term]
id: MONDO:0043529
name: carcinoid heart disease
def: "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." [MESH:D002275]
synonym: "carcinoid heart disease" EXACT []
synonym: "carcinoid heart diseases" RELATED [MESH:D002275]
synonym: "heart disease, carcinoid" RELATED [MESH:D002275]
synonym: "heart diseases, carcinoid" RELATED [MESH:D002275]
xref: MEDGEN:762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002275 {source="MONDO:equivalentTo"}
xref: SCTID:36222008 {source="MONDO:equivalentTo"}
xref: UMLS:C0007093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762"}
is_a: MONDO:0005267 {source="MESH:D002275"} ! heart disorder
relationship: disease_arises_from_feature MONDO:0005369 ! carcinoid tumor

[Term]
id: MONDO:0043537
name: cluster headache syndrome
def: "A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms." [NCIT:C117077]
subset: inferred_rare
subset: rare
synonym: "atypical cluster headache" RELATED [MESH:D003027]
synonym: "atypical cluster headaches" RELATED [MESH:D003027]
synonym: "beuralgias, ciliary" RELATED [MESH:D003027]
synonym: "Cephalgia, histamine" EXACT [MESH:D003027]
synonym: "Cephalgias, histamine" EXACT [MESH:D003027]
synonym: "chronic cluster headache" RELATED [MESH:D003027]
synonym: "chronic cluster headaches" RELATED [MESH:D003027]
synonym: "ciliary neuralgia" EXACT [MESH:D003027, Orphanet:1002]
synonym: "ciliary neuralgias" EXACT [MESH:D003027]
synonym: "cluster headache" EXACT [NCIT:C117077]
synonym: "cluster headache syndrome" EXACT [MESH:D003027]
synonym: "cluster headache syndromes" RELATED [MESH:D003027]
synonym: "cluster headache, atypical" RELATED [MESH:D003027]
synonym: "cluster headache, chronic" RELATED [MESH:D003027]
synonym: "cluster headache, episodic" RELATED [MESH:D003027]
synonym: "cluster headaches" RELATED [MESH:D003027]
synonym: "cluster headaches, atypical" RELATED [MESH:D003027]
synonym: "cluster headaches, chronic" RELATED [MESH:D003027]
synonym: "cluster headaches, episodic" RELATED [MESH:D003027]
synonym: "cluster migraine" EXACT [Orphanet:1002]
synonym: "episodic cluster headache" RELATED [MESH:D003027]
synonym: "episodic cluster headaches" RELATED [MESH:D003027]
synonym: "erythromelalgia of the head" EXACT [Orphanet:1002]
synonym: "erythroprosopalgia of bing" EXACT [Orphanet:1002]
synonym: "headache syndrome, cluster" RELATED [MESH:D003027]
synonym: "headache syndromes, cluster" RELATED [MESH:D003027]
synonym: "headache, atypical cluster" RELATED [MESH:D003027]
synonym: "headache, chronic cluster" RELATED [MESH:D003027]
synonym: "headache, cluster" RELATED [MESH:D003027]
synonym: "headache, episodic cluster" RELATED [MESH:D003027]
synonym: "headaches, atypical cluster" RELATED [MESH:D003027]
synonym: "headaches, chronic cluster" RELATED [MESH:D003027]
synonym: "headaches, cluster" RELATED [MESH:D003027]
synonym: "headaches, episodic cluster" RELATED [MESH:D003027]
synonym: "histamine cephalgia" EXACT [MESH:D003027, Orphanet:1002]
synonym: "histamine cephalgias" EXACT [MESH:D003027]
synonym: "histamine headache" EXACT [Orphanet:1002]
synonym: "Horton headache" EXACT [Orphanet:1002]
synonym: "Horton syndrome" EXACT [MESH:D003027]
synonym: "Horton's headache" EXACT []
synonym: "Horton's neuralgia" EXACT []
synonym: "Horton's syndrome" EXACT [MESH:D003027]
synonym: "Hortons syndrome" EXACT [MESH:D003027]
synonym: "migraine, neuralgic" EXACT [MESH:D003027]
synonym: "migraines, neuralgic" EXACT [MESH:D003027]
synonym: "migrainous neuralgia" EXACT [Orphanet:1002]
synonym: "neuralgia, ciliary" RELATED [MESH:D003027]
synonym: "neuralgic migraine" RELATED [MESH:D003027]
synonym: "neuralgic migraines" RELATED [MESH:D003027]
synonym: "red migraine" EXACT [Orphanet:1002]
synonym: "syndrome, cluster headache" RELATED [MESH:D003027]
synonym: "syndrome, Horton" RELATED [MESH:D003027]
synonym: "syndrome, Horton's" RELATED [MESH:D003027]
synonym: "syndromes, cluster headache" RELATED [MESH:D003027]
synonym: "vasomotor headache" RELATED []
xref: MEDGEN:3503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003027 {source="MONDO:equivalentTo"}
xref: NCIT:C117077 {source="MONDO:equivalentTo"}
xref: Orphanet:1002 {source="MONDO:equivalentObsolete"}
xref: SCTID:193031009 {source="MONDO:equivalentTo"}
xref: UMLS:C0009088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3503"}
is_a: MONDO:0005560 {source="MESH:D003027/inferred"} ! brain disorder
is_a: MONDO:0015530 {source="MESH:D003027", source="NCIT:C117077"} ! trigeminal autonomic cephalalgia

[Term]
id: MONDO:0043541
name: viral conjunctivitis
def: "Conjunctivitis resulting from viral infection." [NCIT:C34509]
subset: otar {source="MONDO:OTAR"}
synonym: "Conjunctivitides, viral" RELATED [MESH:D003236]
synonym: "viral Conjunctivitides" RELATED [MESH:D003236]
synonym: "viral conjunctivitis" EXACT [MESH:D003236, NCIT:C34509]
synonym: "Viruses caused conjunctivitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Viruses conjunctivitis (disease)" EXACT []
xref: EFO:0008571 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:3212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003236 {source="MONDO:equivalentTo"}
xref: NCIT:C34509 {source="MONDO:equivalentTo"}
xref: SCTID:45261009 {source="MONDO:equivalentTo"}
xref: UMLS:C0009774 {source="MEDGEN:3212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003799 {source="MESH:D003236", source="MONDO:Redundant", source="NCIT:C34509/inferred"} ! conjunctivitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses
intersection_of: disease_has_inflammation_site UBERON:0001811 ! conjunctiva

[Term]
id: MONDO:0043543
name: iatrogenic disease
def: "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." [MESH:D007049]
subset: harrisons_view
synonym: "condition, hospital-acquired" RELATED [MESH:D007049]
synonym: "conditions, hospital-acquired" RELATED [MESH:D007049]
synonym: "disease, iatrogenic" RELATED [MESH:D007049]
synonym: "diseases, iatrogenic" RELATED [MESH:D007049]
synonym: "hospital acquired condition" RELATED [MESH:D007049]
synonym: "hospital-acquired condition" RELATED [MESH:D007049]
synonym: "hospital-acquired conditions" RELATED [MESH:D007049]
synonym: "iatrogenic diseases" RELATED [MESH:D007049]
synonym: "iatrogenic disorder" EXACT []
xref: ICD10CM:T80-T88 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:799.9
xref: MEDGEN:9393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007049 {source="MONDO:equivalentTo"}
xref: SCTID:12456005 {source="MONDO:equivalentTo"}
xref: UMLS:C0020732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9393"}
is_a: MONDO:0000001 {source="https://orcid.org/0000-0001-5208-3432"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: has_characteristic MONDO:0100426 ! iatrogenic

[Term]
id: MONDO:0043544
name: nosocomial infection
def: "An infection acquired in a hospital or other healthcare setting." [NCIT:C115164]
subset: otar {source="MONDO:OTAR"}
synonym: "associated infection, Healthcare" RELATED [MESH:D003428]
synonym: "associated infections, Healthcare" RELATED [MESH:D003428]
synonym: "Cross infections" RELATED [MESH:D003428]
synonym: "HAI" BROAD ABBREVIATION [NCIT:C115164]
synonym: "health care associated infection" RELATED [MESH:D003428]
synonym: "health care associated infections" RELATED [MESH:D003428]
synonym: "Healthcare associated infection" RELATED [MESH:D003428]
synonym: "Healthcare associated infections" RELATED [MESH:D003428]
synonym: "Healthcare-associated infection" EXACT [NCIT:C115164]
synonym: "hospital infection" RELATED [MESH:D003428]
synonym: "hospital infections" RELATED [MESH:D003428]
synonym: "hospital-acquired infection" EXACT [NCIT:C115164]
synonym: "hospital-onset infection" EXACT [NCIT:C115164]
synonym: "infection, Cross" RELATED [MESH:D003428]
synonym: "infection, Healthcare associated" RELATED [MESH:D003428]
synonym: "infection, hospital" RELATED [MESH:D003428]
synonym: "infection, nosocomial" RELATED [MESH:D003428]
synonym: "infections, Cross" RELATED [MESH:D003428]
synonym: "infections, Healthcare associated" RELATED [MESH:D003428]
synonym: "infections, hospital" RELATED [MESH:D003428]
synonym: "infections, nosocomial" RELATED [MESH:D003428]
synonym: "nosocomial infection" EXACT [MESH:D003428, NCIT:C115164]
synonym: "nosocomial infections" RELATED [MESH:D003428]
synonym: "nosocomial infectious disease" EXACT []
xref: MEDGEN:61441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003428 {source="MONDO:equivalentTo"}
xref: NCIT:C115164 {source="MONDO:equivalentTo"}
xref: SCTID:19168005 {source="MONDO:equivalentTo"}
xref: UMLS:C0205721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61441"}
is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C115164"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0043543 ! iatrogenic disease

[Term]
id: MONDO:0043549
name: crush syndrome
def: "A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle." [Wikipedia:Crush_syndrome]
synonym: "acute renal failure due to rhabdomyolysis" RELATED []
synonym: "bywaters' syndrome" RELATED []
synonym: "crush kidney" RELATED []
synonym: "crush syndrome" EXACT []
synonym: "crush syndromes" RELATED [MESH:D003444]
synonym: "ischaemic muscular necrosis syndrome" RELATED OMO:0003005 []
synonym: "ischemic muscular necrosis syndrome" RELATED []
synonym: "myoglobinuric acute renal failure" RELATED []
synonym: "myoglobinuric nephrosis" RELATED []
synonym: "renal failure following crushing injury" RELATED []
synonym: "syndrome, crush" RELATED [MESH:D003444]
synonym: "syndromes, crush" RELATED [MESH:D003444]
xref: MEDGEN:3671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003444 {source="MONDO:equivalentTo"}
xref: SCTID:23697004 {source="MONDO:equivalentTo"}
xref: UMLS:C0010392 {source="MEDGEN:3671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 ! kidney disorder
relationship: disease_arises_from_feature MONDO:0021178 ! injury

[Term]
id: MONDO:0043555
name: infantile diarrhea
def: "Diarrhea occurring in infants from newborn to 24-months old." [MESH:D003968]
synonym: "diarrheal disease of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "Diarrheas, infantile" RELATED [MESH:D003968]
synonym: "infantile diarrhea" EXACT [MESH:D003968]
synonym: "infantile diarrheal disease" EXACT [MONDO:design_pattern]
synonym: "infantile Diarrheas" RELATED [MESH:D003968]
synonym: "infantile onset diarrheal disease" EXACT [MONDO:design_pattern, MONDO:patterns/infantile]
synonym: "toddler diarrhea" EXACT []
synonym: "toddler diarrhoea" EXACT OMO:0003005 []
xref: MEDGEN:8361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003968 {source="MONDO:equivalentTo"}
xref: SCTID:39963006 {source="MONDO:equivalentTo"}
xref: UMLS:C0011992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8361"}
is_a: MONDO:0001517 ! dysentery
is_a: MONDO:0001673 {source="MESH:D003968"} ! diarrheal disease
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: has_characteristic HP:0003593 ! Infantile onset

[Term]
id: MONDO:0043576
name: endarteritis
def: "Inflammation of the arterial intima." [NCIT:C34581]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Endarteritides" RELATED [MESH:D004692]
synonym: "endarteritis" EXACT [NCIT:C34581]
synonym: "inflammation of tunica intima of artery" EXACT []
synonym: "tunica intima of artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: MEDGEN:41777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004692 {source="MONDO:equivalentTo"}
xref: NCIT:C34581 {source="MONDO:equivalentTo"}
xref: SCTID:33806008 {source="MONDO:equivalentTo"}
xref: UMLS:C0014100 {source="MEDGEN:41777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0005740 ! tunica intima of artery

[Term]
id: MONDO:0043579
name: enteritis
def: "Inflammation of the small intestine." [NCIT:C26765]
subset: otar {source="MONDO:OTAR"}
synonym: "Enteritides" RELATED [MESH:D004751]
synonym: "enteritis" EXACT [NCIT:C26765]
synonym: "enteritis of small intestine" EXACT []
synonym: "enteritis, inflammatory disorder of small intestine" RELATED []
synonym: "inflammation of small intestine" EXACT []
synonym: "small intestine inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: ICD10CM:K50-K52 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:4964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D004751 {source="MONDO:equivalentTo"}
xref: NCIT:C26765 {source="MONDO:equivalentTo"}
xref: SCTID:64613007 {source="MONDO:equivalentTo"}
xref: UMLS:C0014335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4964"}
is_a: MONDO:0002269 {source="MESH:D004751", source="MONDO:Redundant"} ! gastroenteritis
is_a: MONDO:0005020 {source="MESH:D004751", source="NCIT:C26765/inferred"} ! intestinal disorder
is_a: MONDO:0024635 {source="MONDO:Redundant"} ! small intestine disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0002108 ! small intestine

[Term]
id: MONDO:0043589
name: femoral neck fracture
def: "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." [MESH:D005265]
synonym: "bone fracture of neck of femur" EXACT [MONDO:design_pattern]
synonym: "femoral neck fracture" EXACT [MESH:D005265]
synonym: "femur neck fracture" RELATED [MESH:D005265]
synonym: "femur neck fractures" RELATED [MESH:D005265]
synonym: "fracture of hip" RELATED []
synonym: "fracture of neck of femur" EXACT []
synonym: "neck of femur bone fracture" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nof - fracture of neck of femur" RELATED []
xref: MESH:D005265 {source="MONDO:equivalentTo"}
xref: SCTID:5913000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005327 {source="MESH:D005265"} ! hip fracture
intersection_of: MONDO:0005315 ! bone fracture
intersection_of: disease_has_location UBERON:0007119 ! neck of femur

[Term]
id: MONDO:0043606
name: obsolete pathologic fracture
def: "OBSOLETE. A traumatic break in an area of bone that has been weakened by another disease process." [NCIT:C3047]
comment: This was obsoleted because it is a phenotype and not a disease.
synonym: "fracture, pathologic" RELATED [MESH:D005598]
synonym: "fracture, pathological" RELATED [MESH:D005598]
synonym: "fracture, spontaneous" RELATED [MESH:D005598]
synonym: "fractures, pathologic" RELATED [MESH:D005598]
synonym: "fractures, pathological" RELATED [MESH:D005598]
synonym: "pathologic fracture" EXACT [MESH:D005598, NCIT:C3047]
synonym: "pathologic fractures" RELATED [MESH:D005598]
synonym: "pathological fracture" EXACT [MESH:D005598]
synonym: "pathological fractures" RELATED [MESH:D005598]
synonym: "spontaneous fracture" RELATED [MESH:D005598]
synonym: "spontaneous fractures" RELATED [MESH:D005598]
xref: MESH:D005598 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C3047 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:268029009 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/499" xsd:anyURI
is_obsolete: true
replaced_by: HP:0002756

[Term]
id: MONDO:0043653
name: herpes labialis
def: "A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region." [NCIT:C34695]
synonym: "blister, fever" RELATED [MESH:D006560]
synonym: "blisters, fever" RELATED [MESH:D006560]
synonym: "cold sore" EXACT [MESH:D006560, NCIT:C34695]
synonym: "cold sores" EXACT [MESH:D006560]
synonym: "fever blister" RELATED [MESH:D006560]
synonym: "fever blisters" RELATED [MESH:D006560]
synonym: "herpes labialis" EXACT []
synonym: "herpes simplex labialis" RELATED []
synonym: "Herpes simplex, labial" RELATED [MESH:D006560]
synonym: "labial Herpes simplex" RELATED [MESH:D006560]
synonym: "Sore, cold" RELATED [MESH:D006560]
synonym: "Sores, cold" RELATED [MESH:D006560]
xref: MEDGEN:5533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006560 {source="MONDO:equivalentTo"}
xref: NCIT:C34695 {source="MONDO:equivalentTo"}
xref: SCTID:1475003 {source="MONDO:equivalentTo"}
xref: UMLS:C0019345 {source="MEDGEN:5533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004609 {source="MESH:D006560", source="MONDO:Redundant"} ! herpes simplex infectious disease
is_a: MONDO:0004748 {source="MESH:D006560", source="MONDO:Redundant"} ! lip disorder
is_a: MONDO:0005108 {source="EFO:1001347/inferred", source="MESH:D006560/inferred", source="NCIT:C34695"} ! viral infectious disease
intersection_of: MONDO:0004609 ! herpes simplex infectious disease
intersection_of: disease_has_location UBERON:0001833 ! lip
intersection_of: MONDO:0100333 NCBITaxon:10294 ! disease caused by reactivation of latent infectious agent Simplexvirus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: MONDO:0100333 NCBITaxon:10294 {source="https://orcid.org/0000-0001-5208-3432"} ! disease caused by reactivation of latent infectious agent Simplexvirus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3348" xsd:anyURI

[Term]
id: MONDO:0043678
name: chromosome inversion disorder
def: "Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome." [https://orcid.org/0000-0002-4142-7153, NCIT:C6827]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chromosomal inversion" RELATED [MESH:D007446, NCIT:C6827]
synonym: "chromosomal Inversions" RELATED [MESH:D007446]
synonym: "chromosome Inversions" RELATED [MESH:D007446]
synonym: "inv" RELATED [NCIT:C6827]
synonym: "inversion" RELATED [NCIT:C6827]
synonym: "inversion, chromosomal" RELATED [MESH:D007446]
synonym: "inversion, chromosome" RELATED [MESH:D007446]
synonym: "Inversions, chromosomal" RELATED [MESH:D007446]
synonym: "Inversions, chromosome" RELATED [MESH:D007446]
synonym: "inverted chromosome" RELATED [NCIT:C6827]
xref: MEDGEN:7145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007446 {source="MONDO:equivalentTo"}
xref: NCIT:C6827 {source="MONDO:relatedTo"}
xref: UMLS:C0021943 {source="MEDGEN:7145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder

[Term]
id: MONDO:0043683
name: Leriche syndrome
def: "An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention." [NCIT:C34773]
synonym: "Leriche syndrome" EXACT [NCIT:C34773]
synonym: "Leriche's syndrome" RELATED [MESH:D007925]
synonym: "leriche's syndrome" EXACT []
synonym: "Leriches syndrome" RELATED [MESH:D007925]
synonym: "syndrome, Leriche" RELATED [MESH:D007925]
synonym: "syndrome, Leriche's" RELATED [MESH:D007925]
xref: MEDGEN:44114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007925 {source="MONDO:equivalentTo"}
xref: NCIT:C34773 {source="MONDO:equivalentTo"}
xref: SCTID:307816004 {source="MONDO:equivalentTo"}
xref: UMLS:C0023370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44114"}
is_a: MONDO:0002254 {source="NCIT:C34773"} ! syndromic disease
is_a: MONDO:0005561 {source="MESH:D007925"} ! aortic disorder

[Term]
id: MONDO:0043693
name: alcoholic liver diseases
def: "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis." [NCIT:C34783]
subset: otar {source="MONDO:OTAR"}
synonym: "alcoholic liver damage" NARROW []
synonym: "alcoholic liver disease" EXACT [MESH:D008108, NCIT:C34783]
synonym: "alcoholic liver diseases" EXACT [MESH:D008108]
synonym: "liver disease, alcoholic" RELATED [MESH:D008108]
xref: EFO:0008573 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:9793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008108 {source="MONDO:equivalentTo"}
xref: NCIT:C34783 {source="MONDO:equivalentTo"}
xref: SCTID:41309000 {source="MONDO:equivalentTo"}
xref: UMLS:C0023896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9793"}
is_a: MONDO:0005154 {source="EFO:0008573", source="MESH:D008108", source="MONDO:Redundant", source="NCIT:C34783/inferred"} ! liver disorder
is_a: MONDO:0021699 {source="MESH:D008108"} ! alcohol-induced disorders
intersection_of: MONDO:0005154 ! liver disorder
intersection_of: realized_in_response_to ECTO:0001082 ! exposure to alcohol consumption
relationship: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0043707
name: obsolete mediastinal disorder
def: "OBSOLETE. A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma." [NCIT:C26826]
comment: Reason: grouping class specific to autosomal disorder. Term to consider: none.
synonym: "disease of mediastinum" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of mediastinum" EXACT []
synonym: "disease, mediastinal" RELATED [MESH:D008477]
synonym: "diseases, mediastinal" RELATED [MESH:D008477]
synonym: "disorder of mediastinum" EXACT [MONDO:patterns/location_top]
synonym: "mediastinal disease" EXACT [NCIT:C26826]
synonym: "mediastinal disorder" EXACT [NCIT:C26826]
synonym: "mediastinum disease" EXACT [MONDO:design_pattern]
synonym: "mediastinum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MESH:D008477 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C26826 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:49483002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4621" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0043723
name: Monteggia's fracture
def: "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." [MESH:D009011]
synonym: "fracture, Monteggia's" RELATED [MESH:D009011]
synonym: "Monteggia fracture" RELATED [MESH:D009011]
synonym: "monteggia fracture" RELATED []
synonym: "monteggia fracture dislocation" RELATED []
synonym: "monteggia's dislocation" RELATED []
synonym: "monteggia's fracture" EXACT []
synonym: "Monteggias fracture" RELATED [MESH:D009011]
xref: MESH:D009011 {source="MONDO:equivalentTo"}
xref: SCTID:123973009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005322 {source="MESH:D009011"} ! ulna fracture

[Term]
id: MONDO:0043726
name: multiple organ dysfunction syndrome
def: "The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult." [https://www.ncbi.nlm.nih.gov/books/NBK6868/]
synonym: "failure, multiple organ" RELATED [MESH:D009102]
synonym: "MODS" RELATED ABBREVIATION [MESH:D009102]
synonym: "multi-organ failure" RELATED []
synonym: "multiorgan failure" EXACT []
synonym: "multiple organ dysfunction syndrome" EXACT [MESH:D009102]
synonym: "multiple organ failure" EXACT []
synonym: "multiple organ failures" RELATED [MESH:D009102]
synonym: "multiple organ system failure" EXACT []
synonym: "multiple organ systems failure" RELATED []
synonym: "multiple systems organ failure" RELATED []
synonym: "multisystem organ failure" RELATED []
synonym: "organ dysfunction syndrome, multiple" RELATED [MESH:D009102]
synonym: "organ failure, multiple" RELATED [MESH:D009102]
xref: MEDGEN:6462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009102 {source="MONDO:equivalentTo"}
xref: NCIT:C179648 {source="MONDO:equivalentTo"}
xref: SCTID:57653000 {source="MONDO:equivalentTo"}
xref: UMLS:C0026766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6462"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0043731
name: lytic metastatic bone lesion
def: "Dissolution of bone that particularly involves the removal or loss of calcium." [MESH:D010014]
comment: Editor note: finding in NCIT
synonym: "lytic metastatic bone lesion" EXACT [NCIT:C35371]
synonym: "Osteolyses" RELATED [MESH:D010014]
synonym: "osteolysis" EXACT []
synonym: "osteolytic lesion" EXACT [NCIT:C35371]
xref: MEDGEN:137065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010014 {source="MONDO:equivalentTo"}
xref: NCIT:C35371 {source="MONDO:equivalentTo"}
xref: SCTID:203522001 {source="MONDO:equivalentTo"}
xref: UMLS:C0302313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137065"}
is_a: MONDO:0000837 {source="MESH:D010014"} ! bone resorption disease
is_a: MONDO:0005381 {source="EFO:1001821", source="MESH:D010014/inferred"} ! bone disorder

[Term]
id: MONDO:0043735
name: osteoradionecrosis
def: "Necrosis of bone following radiation injury." [MESH:D010025]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Osteoradionecroses" RELATED [MESH:D010025]
synonym: "osteoradionecrosis" EXACT []
synonym: "radiation necrosis of bone" RELATED []
xref: MEDGEN:10500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010025 {source="MONDO:equivalentTo"}
xref: NCIT:C63707 {source="MONDO:equivalentTo"}
xref: SCTID:109333005 {source="MONDO:equivalentTo"}
xref: UMLS:C0029461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10500"}
is_a: MONDO:0005380 {source="MONDO:Redundant", source="NCIT:C63707"} ! osteonecrosis
intersection_of: MONDO:0005380 ! osteonecrosis
intersection_of: realized_in_response_to ECTO:0000002 ! exposure to electromagnetic radiation

[Term]
id: MONDO:0043759
name: abdominal ectopic pregnancy
def: "Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs." [NCIT:C92921]
synonym: "abdomen ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "abdominal Pregnancies" RELATED [MESH:D011269]
synonym: "abdominal pregnancy" EXACT [MESH:D011269, NCIT:C92921]
synonym: "ectopic pregnancy of abdomen" EXACT [MONDO:design_pattern]
synonym: "intra-abdominal pregnancy" EXACT [NCIT:C92921]
synonym: "Pregnancies, abdominal" RELATED [MESH:D011269]
xref: MEDGEN:46072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011269 {source="MONDO:equivalentTo"}
xref: NCIT:C92921 {source="MONDO:equivalentTo"}
xref: SCTID:82661006 {source="MONDO:equivalentTo"}
xref: UMLS:C0032984 {source="MEDGEN:46072", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000755 {source="MESH:D011269", source="MONDO:Redundant", source="NCIT:C92921"} ! ectopic pregnancy
intersection_of: MONDO:0000755 ! ectopic pregnancy
intersection_of: disease_has_location UBERON:0000916 ! abdomen

[Term]
id: MONDO:0043762
name: tubal pregnancy
def: "An abnormal pregnancy in which the conception is implanted in the fallopian tube." [NCIT:C92946]
synonym: "ectopic pregnancy of fallopian tube" EXACT [MONDO:design_pattern]
synonym: "fallopian pregnancy" RELATED []
synonym: "fallopian tube ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "fallopian tube pregnancy" RELATED []
synonym: "Pregnancies, tubal" RELATED [MESH:D011274]
synonym: "tubal Pregnancies" RELATED [MESH:D011274]
synonym: "tubal pregnancy" EXACT [MESH:D011274, NCIT:C92946]
xref: MEDGEN:10901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011274 {source="MONDO:equivalentTo"}
xref: NCIT:C92946 {source="MONDO:equivalentTo"}
xref: SCTID:79586000 {source="MONDO:equivalentTo"}
xref: UMLS:C0032994 {source="MEDGEN:10901", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000755 {source="MESH:D011274", source="MONDO:Redundant", source="NCIT:C92946"} ! ectopic pregnancy
is_a: MONDO:0002156 {source="MONDO:Redundant"} ! fallopian tube disorder
intersection_of: MONDO:0000755 ! ectopic pregnancy
intersection_of: disease_has_location UBERON:0003889 ! fallopian tube

[Term]
id: MONDO:0043765
name: presbycusis
def: "Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process." [NCIT:C116367]
subset: otar {source="MONDO:OTAR"}
synonym: "age-related hearing impairment" EXACT [MONDO:0005562]
synonym: "age-related hearing loss" RELATED []
synonym: "ARHI" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165]
synonym: "presbyacusia" RELATED []
synonym: "Presbycuses" RELATED [MESH:D011304]
synonym: "presbycusis" EXACT [NCIT:C116367]
synonym: "senile deafness" RELATED []
xref: MEDGEN:10911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011304 {source="MONDO:equivalentTo"}
xref: NCIT:C116367 {source="MONDO:equivalentTo"}
xref: SCTID:49526009 {source="MONDO:equivalentTo"}
xref: UMLS:C0033074 {source="MEDGEN:10911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005365 {source="EFO:0005782", source="MESH:D011304/inferred", source="NCIT:C116367"} ! hearing loss disorder
is_a: MONDO:0020678 {source="https://orcid.org/0000-0002-6601-2165"} ! sensorineural hearing loss disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7390" xsd:anyURI

[Term]
id: MONDO:0043768
name: thrombocytopenic purpura
def: "Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors." [NCIT:C26870]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "purpura, thrombopenic" RELATED [MESH:D011696]
synonym: "purpuras, thrombocytopenic" RELATED [MESH:D011696]
synonym: "purpuras, thrombopenic" RELATED [MESH:D011696]
synonym: "thrombocytopenic purpura" EXACT [MESH:D011696, NCIT:C26870]
synonym: "thrombocytopenic purpuras" RELATED [MESH:D011696]
synonym: "thrombopenic purpura" RELATED [MESH:D011696]
synonym: "thrombopenic purpuras" RELATED [MESH:D011696]
xref: MEDGEN:208992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011696 {source="MONDO:equivalentTo"}
xref: NANDO:2100188 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C26870 {source="MONDO:equivalentTo"}
xref: SCTID:302873008 {source="MONDO:equivalentTo"}
xref: UMLS:C0857305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208992"}
is_a: MONDO:0002049 {source="MESH:D011696/inferred"} ! thrombocytopenia
is_a: MONDO:0002610 {source="MESH:D011696"} ! purpura
is_a: MONDO:0005046 {source="MESH:D011696"} ! immune system disorder
is_a: MONDO:0005570 {source="MESH:D011696/inferred", source="NCIT:C26870"} ! hematologic disorder
is_a: MONDO:0019737 {source="MESH:D011696"} ! thrombotic microangiopathy

[Term]
id: MONDO:0043771
name: radiodermatitis
def: "A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation." [NCIT:C3349]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dermatitides, radiation recall" RELATED [MESH:D011855]
synonym: "Dermatitides, radiation-induced" RELATED [MESH:D011855]
synonym: "dermatitis radiation" EXACT [NCIT:C3349]
synonym: "dermatitis, radiation induced" RELATED [MESH:D011855]
synonym: "dermatitis, radiation recall" RELATED [MESH:D011855]
synonym: "dermatitis, radiation-induced" RELATED [MESH:D011855]
synonym: "radiation dermatitis" EXACT [NCIT:C3349]
synonym: "radiation induced dermatitis" RELATED [MESH:D011855]
synonym: "radiation recall Dermatitides" RELATED [MESH:D011855]
synonym: "radiation recall dermatitis" RELATED [MESH:D011855]
synonym: "radiation recall reaction" RELATED [MESH:D011855]
synonym: "radiation recall reactions" RELATED [MESH:D011855]
synonym: "radiation-induced Dermatitides" RELATED [MESH:D011855]
synonym: "radiation-induced dermatitis" EXACT [NCIT:C3349]
synonym: "Radiodermatitides" RELATED [MESH:D011855]
synonym: "radiodermatitis" EXACT [NCIT:C3349]
synonym: "reaction, radiation recall" RELATED [MESH:D011855]
synonym: "reactions, radiation recall" RELATED [MESH:D011855]
synonym: "recall reaction, radiation" RELATED [MESH:D011855]
synonym: "recall reactions, radiation" RELATED [MESH:D011855]
xref: MESH:D011855 {source="MONDO:equivalentTo"}
xref: NCIT:C3349 {source="MONDO:equivalentTo"}
xref: SCTID:49084001 {source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="MESH:D011855", source="MONDO:Redundant", source="NCIT:C3349"} ! dermatitis
intersection_of: MONDO:0002406 ! dermatitis
intersection_of: realized_in_response_to ECTO:0000002 ! exposure to electromagnetic radiation

[Term]
id: MONDO:0043775
name: respiratory paralysis
def: "Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders." [MESH:D012133]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "diaphragmatic paralysis" RELATED [MESH:D012133]
synonym: "muscle paralysis, respiratory" RELATED [MESH:D012133]
synonym: "muscle paralyzes, respiratory" RELATED [MESH:D012133]
synonym: "paralysis of diaphragm" EXACT []
synonym: "paralysis, diaphragmatic" RELATED [MESH:D012133]
synonym: "paralysis, respiratory" RELATED [MESH:D012133]
synonym: "paralysis, respiratory muscle" RELATED [MESH:D012133]
synonym: "respiratory muscle paralysis" RELATED [MESH:D012133]
xref: MEDGEN:19748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012133 {source="MONDO:equivalentTo"}
xref: SCTID:64228003 {source="MONDO:equivalentTo"}
xref: UMLS:C0035232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19748"}
is_a: MONDO:0005728 ! diaphragm disorder
is_a: MONDO:0006496 {source="MESH:D012133"} ! palsy
is_a: MONDO:0021113 {source="MESH:D012133"} ! respiratory failure

[Term]
id: MONDO:0043777
name: rhinophyma
def: "Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose." [NCIT:C34989]
synonym: "hypertrophic rosacea" RELATED []
synonym: "rhinophyma" EXACT [NCIT:C34989]
synonym: "Rhinophymas" RELATED [MESH:D012224]
xref: MEDGEN:48451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012224 {source="MONDO:equivalentTo"}
xref: NCIT:C34989 {source="MONDO:equivalentTo"}
xref: SCTID:19877001 {source="MONDO:equivalentTo"}
xref: UMLS:C0035466 {source="MEDGEN:48451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006604 {source="MESH:D012224"} ! rosacea
is_a: MONDO:0006607 {source="MESH:D012224"} ! sebaceous gland disorder

[Term]
id: MONDO:0043783
name: sclerema neonatorum
def: "A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life." [NCIT:C35009]
synonym: "sclerema adiposum" RELATED []
synonym: "sclerema neonatorum" EXACT [NCIT:C35009]
synonym: "underwood's disease" RELATED []
xref: MEDGEN:20677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012593 {source="MONDO:equivalentTo"}
xref: NCIT:C35009 {source="MONDO:equivalentTo"}
xref: SCTID:206539008 {source="MONDO:equivalentTo"}
xref: UMLS:C0036415 {source="MEDGEN:20677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005093 {source="MESH:D012593/inferred"} ! skin disorder

[Term]
id: MONDO:0043786
name: serositis
def: "Inflammation of a serous membrane." [NCIT:C70428]
synonym: "inflammation of serous membrane" EXACT []
synonym: "Serositides" RELATED [MESH:D012700]
synonym: "serositis" EXACT [NCIT:C70428]
synonym: "serous membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
xref: MEDGEN:20711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012700 {source="MONDO:equivalentTo"}
xref: NCIT:C70428 {source="MONDO:equivalentTo"}
xref: SCTID:370469003 {source="MONDO:equivalentTo"}
xref: UMLS:C0036749 {source="MEDGEN:20711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_inflammation_site UBERON:0000042 ! serous membrane

[Term]
id: MONDO:0043789
name: serum sickness
def: "Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction." [NCIT:C79718]
synonym: "intoxication by serum" RELATED []
synonym: "protein sickness" RELATED []
synonym: "serum reaction" RELATED []
synonym: "serum sickness" EXACT [NCIT:C79718]
synonym: "serum Sicknesses" RELATED [MESH:D012713]
synonym: "sickness, serum" RELATED [MESH:D012713]
synonym: "Sicknesses, serum" RELATED [MESH:D012713]
synonym: "transfusion reaction due to serum protein reaction" EXACT []
xref: MEDGEN:11390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012713 {source="MONDO:equivalentTo"}
xref: NCIT:C79718 {source="MONDO:equivalentTo"}
xref: SCTID:72284000 {source="MONDO:equivalentTo"}
xref: UMLS:C0036830 {source="MEDGEN:11390", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002459 {source="NCIT:C79718"} ! type IV hypersensitivity disease
is_a: MONDO:0007004 {source="MESH:D012713"} ! type III hypersensitivity disease

[Term]
id: MONDO:0043797
name: spinal cord injury
def: "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." [MESH:D013119]
subset: gard_rare {source="GARD:19109", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:90058"}
subset: orphanet_rare {source="Orphanet:90058"}
subset: rare
synonym: "contusion, spinal cord" RELATED [MESH:D013119]
synonym: "Contusions, spinal cord" RELATED [MESH:D013119]
synonym: "cord contusion, spinal" RELATED [MESH:D013119]
synonym: "cord Contusions, spinal" RELATED [MESH:D013119]
synonym: "cord Injuries, spinal" RELATED [MESH:D013119]
synonym: "cord injury, spinal" RELATED [MESH:D013119]
synonym: "cord laceration, spinal" RELATED [MESH:D013119]
synonym: "cord Lacerations, spinal" RELATED [MESH:D013119]
synonym: "cord transection, spinal" RELATED [MESH:D013119]
synonym: "cord Transections, spinal" RELATED [MESH:D013119]
synonym: "cord trauma, spinal" RELATED [MESH:D013119]
synonym: "cord Traumas, spinal" RELATED [MESH:D013119]
synonym: "Injuries, spinal cord" RELATED [MESH:D013119]
synonym: "injury of spinal cord" EXACT [MONDO:design_pattern]
synonym: "injury, spinal cord" RELATED [MESH:D013119]
synonym: "laceration, spinal cord" RELATED [MESH:D013119]
synonym: "Lacerations, spinal cord" RELATED [MESH:D013119]
synonym: "Myelopathies, post-traumatic" RELATED [MESH:D013119]
synonym: "Myelopathies, traumatic" RELATED [MESH:D013119]
synonym: "myelopathy, post-traumatic" RELATED [MESH:D013119]
synonym: "myelopathy, traumatic" RELATED [MESH:D013119]
synonym: "post traumatic myelopathy" RELATED [MESH:D013119]
synonym: "post-traumatic Myelopathies" RELATED [MESH:D013119]
synonym: "post-traumatic myelopathy" RELATED [MESH:D013119]
synonym: "spinal cord contusion" RELATED [MESH:D013119]
synonym: "spinal cord Contusions" RELATED [MESH:D013119]
synonym: "spinal cord injury" EXACT [MESH:D013119, MONDO:patterns/location]
synonym: "spinal cord laceration" RELATED [MESH:D013119]
synonym: "spinal cord Lacerations" RELATED [MESH:D013119]
synonym: "spinal cord transection" RELATED [MESH:D013119]
synonym: "spinal cord Transections" RELATED [MESH:D013119]
synonym: "spinal cord trauma" RELATED [MESH:D013119]
synonym: "spinal cord Traumas" RELATED [MESH:D013119]
synonym: "transection, spinal cord" RELATED [MESH:D013119]
synonym: "Transections, spinal cord" RELATED [MESH:D013119]
synonym: "trauma, spinal cord" RELATED [MESH:D013119]
synonym: "Traumas, spinal cord" RELATED [MESH:D013119]
synonym: "traumatic Myelopathies" RELATED [MESH:D013119]
synonym: "traumatic myelopathy" RELATED [MESH:D013119]
xref: GARD:19109 {source="MONDO:GARD"}
xref: MESH:D013119 {source="MONDO:equivalentTo"}
xref: Orphanet:90058 {source="MONDO:equivalentTo"}
xref: SCTID:90584004 {source="MONDO:equivalentTo"}
is_a: MONDO:0002545 {source="MESH:D013119", source="MONDO:Redundant"} ! spinal cord disorder
is_a: MONDO:0021178 {source="EFO:1001919", source="MESH:D013119", source="MESH:D013119/inferred"} ! injury
is_a: MONDO:0037747 ! spinal injury
intersection_of: MONDO:0021178 ! injury
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0043836
name: tuberculosis, spinal
def: "Tuberculosis of the vertebrae." [NCIT:C35087]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disease, pott" RELATED [MESH:D014399]
synonym: "disease, pott's" RELATED [MESH:D014399]
synonym: "pott disease" EXACT [NCIT:C35087]
synonym: "pott's disease" EXACT [MESH:D014399, NCIT:C35087]
synonym: "pott's paraplegia" RELATED [MESH:D014399]
synonym: "Potts disease" RELATED [MESH:D014399]
synonym: "spinal Tuberculoses" RELATED [MESH:D014399]
synonym: "spinal tuberculosis" RELATED [MESH:D014399]
synonym: "Tuberculoses, spinal" RELATED [MESH:D014399]
synonym: "tuberculosis of spine (pott's)" RELATED []
synonym: "tuberculosis of vertebral column" EXACT []
synonym: "tuberculosis of vertebral column - pott's" RELATED []
synonym: "tuberculous spondylitis" RELATED []
xref: MEDGEN:11948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014399 {source="MONDO:equivalentTo"}
xref: NCIT:C35087 {source="MONDO:equivalentTo"}
xref: SCTID:35984006 {source="MONDO:equivalentTo"}
xref: UMLS:C0041330 {source="MONDO:equivalentTo", source="MEDGEN:11948", source="MONDO:MEDGEN"}
is_a: MONDO:0000812 {source="MESH:D014399/inferred", source="MONDO:Redundant"} ! vertebral column disorder
is_a: MONDO:0005962 {source="MESH:D014399", source="MONDO:Redundant"} ! skeletal tuberculosis
is_a: MONDO:0018076 {source="MESH:D014399/inferred", source="NCIT:C35087"} ! tuberculosis
intersection_of: MONDO:0018076 ! tuberculosis
intersection_of: disease_has_location UBERON:0001130 ! vertebral column

[Term]
id: MONDO:0043839
name: ulcer disease
def: "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." [MESH:D014456]
subset: otar {source="MONDO:OTAR"}
synonym: "ulcer" EXACT [MESH:D014456]
synonym: "ulcers" EXACT [MESH:D014456]
xref: MEDGEN:22541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014456 {source="MONDO:equivalentTo"}
xref: NCIT:C3426 {source="MONDO:equivalentTo"}
xref: SCTID:429040005 {source="MONDO:equivalentTo"}
xref: UMLS:C0041582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:22541"}
is_a: MONDO:0700096 {source="https://orcid.org/0000-0002-6601-2165"} ! human disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/5961" xsd:anyURI

[Term]
id: MONDO:0043862
name: voice disorders
def: "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis." [NCIT:C3441]
subset: otar {source="MONDO:OTAR"}
synonym: "neurologic dysphonia" RELATED []
synonym: "neurologic voice disorder" EXACT []
synonym: "voice disorder" EXACT [NCIT:C3441]
xref: EFO:0009692 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:12120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014832 {source="MONDO:equivalentTo"}
xref: NCIT:C3441 {source="MONDO:equivalentTo"}
xref: SCTID:71941009 {source="MONDO:equivalentTo"}
xref: UMLS:C0042940 {source="MEDGEN:12120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004382 {source="MESH:D014832", source="NCIT:C3441/inferred"} ! laryngeal disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0071625 ! vocalization behavior

[Term]
id: MONDO:0043875
name: tumor lysis syndrome
def: "A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death." [NCIT:C3425]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "syndrome, tumor lysis" RELATED [MESH:D015275]
synonym: "syndrome, tumour lysis" RELATED OMO:0003005 []
synonym: "syndromes, tumor lysis" RELATED [MESH:D015275]
synonym: "syndromes, tumour lysis" RELATED OMO:0003005 []
synonym: "tumor lysis syndrome" EXACT [MESH:D015275, NCIT:C3425]
xref: MEDGEN:52890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015275 {source="MONDO:equivalentTo"}
xref: NCIT:C3425 {source="MONDO:equivalentTo"}
xref: SCTID:277605001 {source="MONDO:equivalentTo"}
xref: UMLS:C0041364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52890"}
is_a: MONDO:0005066 {source="EFO:1001479"} ! metabolic disease
is_a: MONDO:0021058 {source="NCIT:C3425"} ! neoplastic syndrome
relationship: excluded_subClassOf MONDO:0016537 {source="MESH:D015275", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome

[Term]
id: MONDO:0043878
name: hereditary optic atrophy
def: "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve." [NCIT:C34864]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Atrophies, hereditary optic" RELATED [MESH:D015418]
synonym: "atrophy, hereditary optic" RELATED [MESH:D015418]
synonym: "hereditary optic Atrophies" RELATED [MESH:D015418]
synonym: "hereditary optic atrophy" EXACT [MESH:D015418, MONDO:patterns/hereditary, NCIT:C34864]
synonym: "optic atrophy, hereditary" RELATED [MESH:D015418]
xref: MEDGEN:45207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015418 {source="MONDO:equivalentTo"}
xref: NCIT:C34864 {source="MONDO:equivalentTo"}
xref: OMIMPS:165500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: SCTID:26360005 {source="MONDO:equivalentTo"}
xref: UMLS:C0029125 {source="MEDGEN:45207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001084 ! primary optic atrophy
is_a: MONDO:0003608 {source="MESH:D015418", source="NCIT:C34864"} ! optic atrophy
is_a: MONDO:0003847 {source="MESH:D015418/inferred"} ! hereditary disease
is_a: MONDO:0024237 {source="MESH:D015418", source="MONDO:Redundant"} ! inherited neurodegenerative disorder
intersection_of: MONDO:0003608 ! optic atrophy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:165500"} ! inherited

[Term]
id: MONDO:0043881
name: obsolete acute eosinophilic leukemia
def: "OBSOLETE. A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)" [NCIT:C26813]
synonym: "acute eosinophilic leukemia" EXACT [MESH:D015472, NCIT:C26813]
synonym: "acute eosinophilic leukemias" RELATED [MESH:D015472]
synonym: "eosinophilic leukemia, acute" RELATED [MESH:D015472]
synonym: "eosinophilic leukemias, acute" RELATED [MESH:D015472]
synonym: "leukemia, acute eosinophilic" RELATED [MESH:D015472]
synonym: "leukemias, acute eosinophilic" RELATED [MESH:D015472]
xref: MESH:D015472 {source="MONDO:obsoleteEquivalent"}
xref: NCIT:C26813 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:277604002 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0043885
name: eye infectious disorder
def: "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." [NCIT:C45372]
synonym: "eye infection" EXACT [MESH:D015817, NCIT:C45372]
synonym: "infection, eye" RELATED [MESH:D015817]
synonym: "infection, ocular" RELATED [MESH:D015817]
synonym: "infections, eye" RELATED [MESH:D015817]
synonym: "infections, ocular" RELATED [MESH:D015817]
synonym: "ocular infection" RELATED [MESH:D015817]
synonym: "ocular infections" RELATED [MESH:D015817]
xref: MEDGEN:41934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D015817 {source="MONDO:equivalentTo"}
xref: NCIT:C45372 {source="MONDO:equivalentTo"}
xref: SCTID:128351009 {source="MONDO:equivalentTo"}
xref: UMLS:C0015403 {source="MONDO:equivalentTo", source="MEDGEN:41934", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="MESH:D015817", source="NCIT:C45372/inferred"} ! eye disorder
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0000970 ! eye

[Term]
id: MONDO:0043892
name: prosthesis-related infectious disease
def: "A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread." [NCIT:C79705]
synonym: "device related infection" EXACT [NCIT:C79705]
synonym: "infections, prosthesis-related" RELATED [MESH:D016459]
synonym: "prosthesis related infections" RELATED [MESH:D016459]
synonym: "prosthesis-related infection" EXACT [MESH:D016459, NCIT:C79705]
xref: MESH:D016459 {source="MONDO:equivalentTo"}
xref: NCIT:C79705 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="NCIT:C79705/inferred"} ! infectious disease

[Term]
id: MONDO:0043895
name: ankle injury
def: "Harm or hurt to the ankle or ankle joint usually inflicted by an external source." [MESH:D016512]
synonym: "ankle injury" EXACT [MESH:D016512]
synonym: "ankle sprain" RELATED [MESH:D016512]
synonym: "ankle Sprains" RELATED [MESH:D016512]
synonym: "Injuries, ankle" RELATED [MESH:D016512]
synonym: "Injuries, syndesmotic" RELATED [MESH:D016512]
synonym: "injury of ankle" EXACT []
synonym: "injury of tarsal region" EXACT []
synonym: "injury, ankle" RELATED [MESH:D016512]
synonym: "injury, syndesmotic" RELATED [MESH:D016512]
synonym: "sprain, ankle" RELATED [MESH:D016512]
synonym: "Sprains, ankle" RELATED [MESH:D016512]
synonym: "syndesmotic Injuries" RELATED [MESH:D016512]
synonym: "syndesmotic injury" RELATED [MESH:D016512]
synonym: "tarsal region injury" EXACT [MONDO:patterns/location]
xref: ICD10CM:S90-S99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MESH:D016512 {source="MONDO:equivalentTo"}
xref: SCTID:125603006 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0021178 ! injury
intersection_of: disease_has_location UBERON:0004454 ! tarsal region

[Term]
id: MONDO:0043904
name: leishmaniasis, diffuse cutaneous
def: "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." [MESH:D016774]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cheloid leishmaniasis" RELATED []
synonym: "cutaneous Leishmaniases, diffuse" RELATED [MESH:D016774]
synonym: "cutaneous leishmaniasis, diffuse" RELATED [MESH:D016774]
synonym: "dcl - diffuse cutaneous leishmaniasis" RELATED []
synonym: "diffuse cutaneous Leishmaniases" RELATED [MESH:D016774]
synonym: "diffuse cutaneous leishmaniasis" EXACT []
synonym: "Leishmaniases, diffuse cutaneous" RELATED [MESH:D016774]
synonym: "leproid leishmaniasis" RELATED []
synonym: "lepromatous cutaneous leishmaniasis" RELATED []
xref: MEDGEN:39020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016774 {source="MONDO:equivalentTo"}
xref: SCTID:38573008 {source="MONDO:equivalentTo"}
xref: UMLS:C0085311 {source="MEDGEN:39020", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005446 {source="MESH:D016774"} ! cutaneous leishmaniasis

[Term]
id: MONDO:0043905
name: pneumonitis
def: "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia." [NCIT:C113159]
comment: Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious
subset: otar {source="MONDO:OTAR"}
synonym: "inflammation of lung parenchyma" EXACT []
synonym: "lung parenchyma inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site]
synonym: "pneumonitis" EXACT [NCIT:C113159]
xref: EFO:1001991 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:811420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C113159 {source="MONDO:equivalentTo"}
xref: SCTID:205237003 {source="MONDO:equivalentTo"}
xref: UMLS:C3714636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811420"}
is_a: MONDO:0005275 {source="MONDO:Redundant", source="NCIT:C113159/inferred"} ! lung disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_inflammation_site UBERON:0008946 ! lung parenchyma

[Term]
id: MONDO:0043919
name: radiation pneumonitis
def: "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." [MESH:D017564]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fibrosis, radiation" RELATED [MESH:D017564]
synonym: "pneumonia, radiation" RELATED [MESH:D017564]
synonym: "Pneumonias, radiation" RELATED [MESH:D017564]
synonym: "Pneumonitides, radiation" RELATED [MESH:D017564]
synonym: "pneumonitis, radiation" RELATED [MESH:D017564]
synonym: "pulmonary radiation alveolitis" RELATED []
synonym: "radiation fibrosis" RELATED [MESH:D017564]
synonym: "radiation pneumonia" RELATED [MESH:D017564]
synonym: "radiation Pneumonias" RELATED [MESH:D017564]
synonym: "radiation Pneumonitides" RELATED [MESH:D017564]
synonym: "radiation pneumonitis" EXACT []
xref: MESH:D017564 {source="MONDO:equivalentTo"}
xref: SCTID:84004001 {source="MONDO:equivalentTo"}
is_a: MONDO:0015925 {source="MESH:D017564"} ! interstitial lung disease
intersection_of: MONDO:0043905 ! pneumonitis
intersection_of: realized_in_response_to ECTO:0000002 ! exposure to electromagnetic radiation

[Term]
id: MONDO:0043923
name: lichen planus, oral
def: "A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral." [NCIT:C7406]
synonym: "olp - oral lichen planus" RELATED []
synonym: "oral lichen planus" EXACT [MESH:D017676, NCIT:C7406]
xref: MEDGEN:60084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017676 {source="MONDO:equivalentTo"}
xref: NCIT:C7406 {source="MONDO:equivalentTo"}
xref: SCTID:235049008 {source="MONDO:equivalentTo"}
xref: UMLS:C0206139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60084"}
is_a: MONDO:0006572 {source="MESH:D017676", source="NCIT:C7406"} ! lichen planus
is_a: MONDO:0006858 {source="MESH:D017676"} ! mouth disorder

[Term]
id: MONDO:0043953
name: burkholderia infectious disease
def: "Infections with bacteria of the genus Burkholderia." [MESH:D019121]
synonym: "Burkholderia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Burkholderia disease or disorder" EXACT []
synonym: "Burkholderia infection" RELATED [MESH:D019121]
synonym: "Burkholderia infectious disease" EXACT []
synonym: "burkholderia infectious disease" EXACT []
synonym: "infection caused by Burkholderia" EXACT []
synonym: "infection, Burkholderia" RELATED [MESH:D019121]
synonym: "infections, Burkholderia" RELATED [MESH:D019121]
xref: MESH:D019121 {source="MONDO:equivalentTo"}
xref: SCTID:721736003 {source="MONDO:equivalentTo"}
is_a: MONDO:0021678 {source="MESH:D019121"} ! gram-negative bacterial infections
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:32008 ! Burkholderia

[Term]
id: MONDO:0043959
name: pseudolymphoma
def: "A neoplastic process that resembles a malignant lymphoma, but has a benign course." [NCIT:C3825]
subset: otar {source="MONDO:OTAR"}
synonym: "benign lymphoid hyperplasia" RELATED []
synonym: "hyperplasia, reactive lymphoid" RELATED [MESH:D019310]
synonym: "hyperplasias, reactive lymphoid" RELATED [MESH:D019310]
synonym: "lymphocytoma" RELATED [MESH:D019310]
synonym: "lymphocytomas" RELATED [MESH:D019310]
synonym: "lymphoid hyperplasia, reactive" RELATED [MESH:D019310]
synonym: "lymphoid Hyperplasias, reactive" RELATED [MESH:D019310]
synonym: "pseudolymphoma" EXACT [NCIT:C3825]
synonym: "pseudolymphomas" RELATED [MESH:D019310]
synonym: "reactive lymphoid hyperplasia" RELATED [MESH:D019310]
synonym: "reactive lymphoid Hyperplasias" RELATED [MESH:D019310]
xref: EFO:1001831 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:67450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D019310 {source="MONDO:equivalentTo"}
xref: NCIT:C3825 {source="MONDO:equivalentTo"}
xref: SCTID:19750001 {source="MONDO:equivalentTo"}
xref: UMLS:C0221269 {source="MEDGEN:67450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005833 {source="MESH:D019310"} ! lymphatic system disorder

[Term]
id: MONDO:0043969
name: nocturnal paroxysmal dystonia
def: "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night." [MESH:D020183, PMID:1630641]
synonym: "dystonia, hypnogenic paroxysmal" EXACT [MESH:D020183]
synonym: "dystonia, nocturnal paroxysmal" EXACT [MESH:D020183]
synonym: "dystonia, nocturnal, paroxysmal" EXACT [MESH:D020183]
synonym: "dystonia, sleep-related" EXACT [MESH:D020183]
synonym: "dystonias, hypnogenic paroxysmal" EXACT [MESH:D020183]
synonym: "dystonias, nocturnal paroxysmal" EXACT [MESH:D020183]
synonym: "dystonias, sleep-related" EXACT [MESH:D020183]
synonym: "hypnogenic paroxysmal dystonia" EXACT [MESH:D020183]
synonym: "hypnogenic paroxysmal dystonias" EXACT [MESH:D020183]
synonym: "nocturnal paroxysmal dystonias" EXACT [MESH:D020183]
synonym: "paroxysmal dystonia, hypnogenic" EXACT [MESH:D020183]
synonym: "paroxysmal dystonia, nocturnal" EXACT [MESH:D020183]
synonym: "paroxysmal dystonias, hypnogenic" EXACT [MESH:D020183]
synonym: "paroxysmal dystonias, nocturnal" EXACT [MESH:D020183]
synonym: "sleep related dystonia" RELATED [MESH:D020183]
synonym: "sleep-related dystonia" RELATED [MESH:D020183]
synonym: "sleep-related dystonias" RELATED [MESH:D020183]
xref: MEDGEN:95991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020183 {source="MONDO:equivalentTo"}
xref: SCTID:230500006 {source="MONDO:equivalentTo"}
xref: UMLS:C0393777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:95991"}
is_a: MONDO:0003441 ! dystonic disorder
relationship: disease_disrupts GO:0030431 ! sleep

[Term]
id: MONDO:0043975
name: autonomic dysreflexia
def: "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" [MESH:D020211]
synonym: "autonomic dysreflexia" EXACT []
synonym: "autonomic Dysreflexia, spinal" RELATED [MESH:D020211]
synonym: "autonomic Dysreflexias" RELATED [MESH:D020211]
synonym: "autonomic Dysreflexias, spinal" RELATED [MESH:D020211]
synonym: "autonomic hyperreflexia" RELATED [MESH:D020211]
synonym: "autonomic Hyperreflexias" RELATED [MESH:D020211]
synonym: "dysreflexia" RELATED []
synonym: "Dysreflexia, autonomic" RELATED [MESH:D020211]
synonym: "Dysreflexia, spinal autonomic" RELATED [MESH:D020211]
synonym: "Dysreflexias, autonomic" RELATED [MESH:D020211]
synonym: "Dysreflexias, spinal autonomic" RELATED [MESH:D020211]
synonym: "hyperreflexia, autonomic" RELATED [MESH:D020211]
synonym: "hyperreflexias, autonomic" RELATED [MESH:D020211]
synonym: "spinal autonomic Dysreflexia" RELATED [MESH:D020211]
synonym: "spinal autonomic Dysreflexias" RELATED [MESH:D020211]
xref: MEDGEN:66758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020211 {source="MONDO:equivalentTo"}
xref: SCTID:129618003 {source="MONDO:equivalentTo"}
xref: UMLS:C0238015 {source="MEDGEN:66758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001292 {source="MESH:D020211"} ! autonomic nervous system disorder

[Term]
id: MONDO:0043982
name: cubital tunnel syndrome
def: "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" [MESH:D020430]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cubital tunnel syndrome" EXACT []
synonym: "cubital tunnel syndromes" RELATED [MESH:D020430]
synonym: "syndrome, cubital tunnel" RELATED [MESH:D020430]
synonym: "syndromes, cubital tunnel" RELATED [MESH:D020430]
synonym: "tunnel syndrome, cubital" RELATED [MESH:D020430]
synonym: "tunnel syndromes, cubital" RELATED [MESH:D020430]
synonym: "ulnar nerve compression, cubital tunnel" RELATED [MESH:D020430]
synonym: "ulnar nerve entrapment, elbow" RELATED [MESH:D020430]
xref: MEDGEN:104813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020430 {source="MONDO:equivalentTo"}
xref: SCTID:56177003 {source="MONDO:equivalentTo"}
xref: UMLS:C0206239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104813"}
is_a: MONDO:0007006 {source="MESH:D020430", source="MESH:D020430/inferred"} ! ulnar neuropathy

[Term]
id: MONDO:0043985
name: central nervous system lupus
def: "Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features." [NCIT:C116919]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "central nervous system lupus" EXACT [MESH:D020945, NCIT:C116919]
synonym: "central nervous system lupus vasculitis" RELATED [MESH:D020945]
synonym: "central nervous system systemic lupus Erythematosis" RELATED [MESH:D020945]
synonym: "CNS lupus" EXACT [NCIT:C116919]
synonym: "lupus Meningoencephalitides" RELATED [MESH:D020945]
synonym: "lupus meningoencephalitis" RELATED [MESH:D020945]
synonym: "Meningoencephalitides, lupus" RELATED [MESH:D020945]
synonym: "meningoencephalitis, lupus" RELATED [MESH:D020945]
synonym: "neuropsychiatric systemic lupus erythematosus" RELATED [MESH:D020945]
synonym: "systemic lupus Erythematosis, central nervous system" RELATED [MESH:D020945]
xref: MEDGEN:156265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020945 {source="MONDO:equivalentTo"}
xref: NCIT:C116919 {source="MONDO:equivalentTo"}
xref: UMLS:C0752332 {source="MEDGEN:156265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004670 {source="NCIT:C116919"} ! lupus erythematosus
is_a: MONDO:0007915 {source="MESH:D020945"} ! systemic lupus erythematosus
relationship: disease_has_location UBERON:0001017 ! central nervous system
relationship: excluded_subClassOf MONDO:0003346 {source="MESH:D020945", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system vasculitis
relationship: excluded_subClassOf MONDO:0005845 {source="MESH:D020945", source="https://orcid.org/0000-0001-5208-3432"} ! meningoencephalitis

[Term]
id: MONDO:0043988
name: zoster sine herpete
def: "Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." [MESH:D031368]
synonym: "Zoster sine Eruptione" RELATED [MESH:D031368]
synonym: "zoster sine herpete" EXACT []
xref: MEDGEN:253902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D031368 {source="MONDO:equivalentTo"}
xref: SCTID:449783002 {source="MONDO:equivalentTo"}
xref: UMLS:C1135841 {source="MEDGEN:253902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005609 {source="MESH:D031368"} ! herpes zoster

[Term]
id: MONDO:0043994
name: acute cholecystitis
def: "Acute inflammation of the gallbladder." [NCIT:C35152]
synonym: "acute cholecystitis" EXACT [MESH:D041881, NCIT:C35152]
xref: MEDGEN:57682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D041881 {source="MONDO:equivalentTo"}
xref: NCIT:C35152 {source="MONDO:equivalentTo"}
xref: SCTID:65275009 {source="MONDO:equivalentTo"}
xref: UMLS:C0149520 {source="MEDGEN:57682", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002155 {source="MESH:D041881", source="NCIT:C35152"} ! cholecystitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0044001
name: hearing loss, mixed conductive-sensorineural
def: "Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear." [NCIT:C26974]
subset: otar {source="MONDO:OTAR"}
synonym: "hearing loss, mixed" RELATED [MESH:D046089]
synonym: "hearing loss, mixed conductive sensorineural" RELATED [MESH:D046089]
synonym: "loss, mixed hearing" RELATED [MESH:D046089]
synonym: "Losses, mixed hearing" RELATED [MESH:D046089]
synonym: "mixed conductive and sensorineural deafness" EXACT [NCIT:C26974]
synonym: "mixed conductive and sensorineural hearing loss" EXACT [NCIT:C26974]
synonym: "mixed deafness" RELATED []
synonym: "mixed hearing loss" EXACT [MESH:D046089, NCIT:C26974]
synonym: "mixed type deafness" RELATED []
xref: MEDGEN:102336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D046089 {source="MONDO:equivalentTo"}
xref: NCIT:C26974 {source="MONDO:equivalentTo"}
xref: SCTID:77507001 {source="MONDO:equivalentTo"}
xref: UMLS:C0155552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:102336"}
is_a: MONDO:0005365 {source="MESH:D046089", source="NCIT:C26974"} ! hearing loss disorder

[Term]
id: MONDO:0044013
name: puerperal disorder
def: "Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans." [MESH:D011644]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of puerperium" EXACT []
synonym: "disorder, puerperal" RELATED [MESH:D011644]
synonym: "disorders, puerperal" RELATED [MESH:D011644]
synonym: "postpartum disorder" RELATED []
synonym: "puerperal disorder" EXACT [MESH:D011644]
xref: EFO:0009683 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:O00-O9A {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:O10-O16 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:O85-O92 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:18758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011644 {source="MONDO:equivalentTo"}
xref: SCTID:362973001 {source="MONDO:equivalentTo"}
xref: UMLS:C0034040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18758"}
is_a: MONDO:0700003 {source="https://github.com/monarch-initiative/mondo/issues/3161", source="https://orcid.org/0000-0002-4142-7153"} ! obstetric disorder
relationship: excluded_subClassOf MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/652", source="https://orcid.org/0000-0001-5208-3432"} ! disease
relationship: excluded_subClassOf MONDO:0024575 {source="MESH:D011644", source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder

[Term]
id: MONDO:0044014
name: postpartum thyroiditis
def: "A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum" [MESH:D050032, NCIT:C114389]
subset: otar {source="MONDO:OTAR"}
synonym: "post partum thyroiditis" RELATED [MESH:D050032]
synonym: "post-partum thyroiditides" RELATED [MESH:D050032]
synonym: "post-partum thyroiditis" RELATED [MESH:D050032]
synonym: "postpartum thyroiditides" RELATED [MESH:D050032]
synonym: "postpartum thyroiditis" EXACT [NCIT:C114389]
synonym: "thyroiditides, post-partum" RELATED [MESH:D050032]
synonym: "thyroiditides, postpartum" RELATED [MESH:D050032]
synonym: "thyroiditis, post-partum" RELATED [MESH:D050032]
synonym: "thyroiditis, postpartum" RELATED [MESH:D050032]
xref: EFO:1001403 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:78787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D050032 {source="MONDO:equivalentTo"}
xref: NCIT:C114389 {source="MONDO:equivalentTo"}
xref: SCTID:52772002 {source="MONDO:equivalentTo"}
xref: UMLS:C0271815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78787"}
is_a: MONDO:0004126 {source="MESH:D050032/inferred", source="NCIT:C114389"} ! thyroiditis
is_a: MONDO:0005623 {source="MESH:D050032"} ! autoimmune thyroid disease
intersection_of: MONDO:0004126 ! thyroiditis
intersection_of: MONDO:0044013 ! puerperal disorder

[Term]
id: MONDO:0044033
name: posterior leukoencephalopathy syndrome
def: "An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment." [NCIT:C78598]
synonym: "leukoencephalopathy syndrome, Posterior" RELATED [MESH:D054038]
synonym: "leukoencephalopathy syndromes, Posterior" RELATED [MESH:D054038]
synonym: "Posterior reversible encephalopathy syndrome" EXACT [NCIT:C78598]
synonym: "posterior reversible encephalopathy syndrome" EXACT []
synonym: "PRES" EXACT ABBREVIATION [NCIT:C78598]
synonym: "reversible occipital parietal encephalopathy" EXACT [NCIT:C78598]
synonym: "reversible Posterior cerebral edema syndrome" EXACT [NCIT:C78598]
synonym: "reversible Posterior cerebral oedema syndrome" EXACT OMO:0003005 []
synonym: "reversible Posterior leukoencephalopathy syndrome" EXACT [NCIT:C78598]
synonym: "reversible posterior leukoencephalopathy syndrome" EXACT [MESH:D054038, NCIT:C78598]
synonym: "RPLE" EXACT ABBREVIATION [NCIT:C78598]
synonym: "syndrome, Posterior leukoencephalopathy" RELATED [MESH:D054038]
synonym: "syndromes, Posterior leukoencephalopathy" RELATED [MESH:D054038]
xref: MEDGEN:163898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054038 {source="MONDO:equivalentTo"}
xref: NCIT:C78598 {source="MONDO:equivalentTo"}
xref: SCTID:450886002 {source="MONDO:equivalentTo"}
xref: UMLS:C0878576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163898"}
is_a: MONDO:0002254 {source="NCIT:C78598"} ! syndromic disease
is_a: MONDO:0006796 {source="MESH:D054038"} ! hypertensive encephalopathy
relationship: disease_has_feature HP:0002352 ! Leukoencephalopathy

[Term]
id: MONDO:0044037
name: livedo reticularis
def: "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." [MESH:D054068]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "livedo racemosa" RELATED []
synonym: "livedo reticularis" EXACT []
xref: MEDGEN:43223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054068 {source="MONDO:equivalentTo"}
xref: SCTID:238772004 {source="MONDO:equivalentTo"}
xref: UMLS:C0085642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43223"}
is_a: MONDO:0005294 {source="MESH:D054068"} ! peripheral vascular disease
is_a: MONDO:0019293 {source="MESH:D054068"} ! skin vascular disease

[Term]
id: MONDO:0044067
name: candidiasis, invasive
def: "A fungal infection by any of the Candida species in a sterile body compartment." [NCIT:C116813]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:636945"}
subset: orphanet_rare {source="Orphanet:636945"}
subset: rare
synonym: "candidiases, invasive" EXACT [MESH:D058365]
synonym: "invasive candidiases" EXACT [MESH:D058365]
synonym: "invasive candidiasis" EXACT [NCIT:C116813, Orphanet:636945]
xref: MEDGEN:296300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058365 {source="MONDO:equivalentTo"}
xref: NCIT:C116813 {source="MONDO:equivalentTo"}
xref: Orphanet:636945 {xref="MONDO:equivalentTo"}
xref: UMLS:C1609535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:296300"}
is_a: MONDO:0002026 {source="MESH:D058365", source="NCIT:C116813"} ! candidiasis

[Term]
id: MONDO:0044070
name: candidemia
def: "A form of invasive candidiasis where species of candida are present in the blood." [MESH:D058387]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "candidemia" EXACT []
synonym: "Candidemias" RELATED [MESH:D058387]
xref: MEDGEN:163760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058387 {source="MONDO:equivalentTo"}
xref: SCTID:432261003 {source="MONDO:equivalentTo"}
xref: UMLS:C0877445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163760"}
is_a: MONDO:0002026 {source="MESH:D058387/inferred"} ! candidiasis
is_a: MONDO:0044067 {source="MESH:D058387"} ! candidiasis, invasive

[Term]
id: MONDO:0044079
name: cardio-renal syndrome
def: "A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ." [NCIT:C123225]
synonym: "cardio renal syndrome" RELATED [MESH:D059347]
synonym: "cardio-renal syndromes" RELATED [MESH:D059347]
synonym: "cardiorenal syndrome" EXACT [MESH:D059347, NCIT:C123225]
synonym: "cardiorenal syndromes" RELATED [MESH:D059347]
synonym: "Reno Cardiac syndrome" RELATED [MESH:D059347]
synonym: "Reno-Cardiac syndrome" RELATED [MESH:D059347]
synonym: "Reno-Cardiac syndromes" RELATED [MESH:D059347]
synonym: "Renocardiac syndrome" RELATED [MESH:D059347]
synonym: "Renocardiac syndromes" RELATED [MESH:D059347]
synonym: "syndrome, cardio-renal" RELATED [MESH:D059347]
synonym: "syndrome, cardiorenal" RELATED [MESH:D059347]
synonym: "syndrome, Reno-Cardiac" RELATED [MESH:D059347]
synonym: "syndrome, Renocardiac" RELATED [MESH:D059347]
synonym: "syndromes, cardio-renal" RELATED [MESH:D059347]
synonym: "syndromes, cardiorenal" RELATED [MESH:D059347]
synonym: "syndromes, Reno-Cardiac" RELATED [MESH:D059347]
synonym: "syndromes, Renocardiac" RELATED [MESH:D059347]
xref: MEDGEN:453248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D059347 {source="MONDO:equivalentTo"}
xref: NCIT:C123225 {source="MONDO:equivalentTo"}
xref: SCTID:445236007 {source="MONDO:equivalentTo"}
xref: UMLS:C2242703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:453248"}
is_a: MONDO:0002254 {source="NCIT:C123225"} ! syndromic disease
is_a: MONDO:0005252 {source="MESH:D059347"} ! heart failure
relationship: disease_has_feature MONDO:0001106 {source="MESH:D059347"} ! kidney failure
relationship: disease_has_feature MONDO:0005252 {source="MESH:D059347"} ! heart failure

[Term]
id: MONDO:0044083
name: alternariosis
def: "Opportunistic fungal infection by a member of Alternaria genus." [MESH:D060487]
synonym: "Alternarioses" RELATED [MESH:D060487]
synonym: "Alternarioses, cutaneous" RELATED [MESH:D060487]
synonym: "Alternarioses, dermal" RELATED [MESH:D060487]
synonym: "Alternarioses, subcutaneous" RELATED [MESH:D060487]
synonym: "Alternariosis, cutaneous" RELATED [MESH:D060487]
synonym: "Alternariosis, dermal" RELATED [MESH:D060487]
synonym: "Alternariosis, subcutaneous" RELATED [MESH:D060487]
synonym: "cutaneous Alternarioses" RELATED [MESH:D060487]
synonym: "cutaneous Alternariosis" RELATED [MESH:D060487]
synonym: "cutaneous alternariosis" EXACT []
synonym: "dermal Alternarioses" RELATED [MESH:D060487]
synonym: "dermal Alternariosis" RELATED [MESH:D060487]
synonym: "subcutaneous Alternarioses" RELATED [MESH:D060487]
synonym: "subcutaneous Alternariosis" RELATED [MESH:D060487]
xref: MEDGEN:465430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060487 {source="MONDO:equivalentTo"}
xref: SCTID:238436005 {source="MONDO:equivalentTo"}
xref: UMLS:C3178962 {source="MEDGEN:465430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:5598 ! Alternaria

[Term]
id: MONDO:0044092
name: collagenous sprue
def: "A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal." [NCIT:C45426]
synonym: "collagenous enteropathy" RELATED []
synonym: "collagenous enteropathy syndrome" RELATED []
synonym: "collagenous sprue" EXACT [NCIT:C45426]
synonym: "collagenous Sprues" RELATED [MESH:D064068]
synonym: "non-gluten intolerance syndrome" RELATED []
synonym: "non-gluten sensitive enteropathy syndrome" EXACT []
synonym: "sprue, collagenous" RELATED [MESH:D064068]
synonym: "Sprues, collagenous" RELATED [MESH:D064068]
xref: MEDGEN:137953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D064068 {source="MONDO:equivalentTo"}
xref: NCIT:C45426 {source="MONDO:equivalentTo"}
xref: SCTID:61738006 {source="MONDO:equivalentTo"}
xref: UMLS:C0341299 {source="MEDGEN:137953", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="MESH:D064068/inferred", source="NCIT:C45426/inferred"} ! intestinal disorder
is_a: MONDO:0005066 {source="MESH:D064068/inferred"} ! metabolic disease
relationship: excluded_subClassOf MONDO:0005130 {source="NCIT:C45426", source="https://orcid.org/0000-0001-5208-3432"} ! celiac disease

[Term]
id: MONDO:0044098
name: ovarian ectopic pregnancy
def: "An abnormal pregnancy in which the conception is implanted on the ovary." [NCIT:C92945]
synonym: "ectopic pregnancy of ovary" EXACT [MONDO:design_pattern]
synonym: "ovarian Pregnancies" RELATED [MESH:D065172]
synonym: "ovarian pregnancy" EXACT [MESH:D065172, NCIT:C92945]
synonym: "ovary ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Pregnancies, ovarian" RELATED [MESH:D065172]
xref: MEDGEN:46073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065172 {source="MONDO:equivalentTo"}
xref: NCIT:C92945 {source="MONDO:equivalentTo"}
xref: SCTID:9899009 {source="MONDO:equivalentTo"}
xref: UMLS:C0032991 {source="MEDGEN:46073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000755 {source="MESH:D065172", source="MONDO:Redundant", source="NCIT:C92945"} ! ectopic pregnancy
is_a: MONDO:0005558 {source="MONDO:Redundant"} ! ovarian disorder
intersection_of: MONDO:0000755 ! ectopic pregnancy
intersection_of: disease_has_location UBERON:0000992 ! ovary

[Term]
id: MONDO:0044101
name: pregnancy, cornual
def: "An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus." [NCIT:C92761]
synonym: "cornual Pregnancies" RELATED [MESH:D065173]
synonym: "cornual pregnancy" EXACT [MESH:D065173, NCIT:C92761]
synonym: "ectopic pregnancy of uterine horn" EXACT [MONDO:design_pattern]
synonym: "Pregnancies, cornual" RELATED [MESH:D065173]
synonym: "rudimentary horn pregnancy" RELATED []
synonym: "uterine horn ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:452359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065173 {source="MONDO:equivalentTo"}
xref: NCIT:C92761 {source="MONDO:equivalentTo"}
xref: SCTID:87605005 {source="MONDO:equivalentTo"}
xref: UMLS:C0269286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452359"}
is_a: MONDO:0000755 {source="MESH:D065173", source="MONDO:Redundant", source="NCIT:C92761"} ! ectopic pregnancy
is_a: MONDO:0002654 {source="MONDO:Redundant"} ! uterine disorder
intersection_of: MONDO:0000755 ! ectopic pregnancy
intersection_of: disease_has_location UBERON:0002247 ! uterine horn

[Term]
id: MONDO:0044113
name: bullous systemic lupus erythematosus
def: "A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption." [NCIT:C117104]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BSLE" EXACT ABBREVIATION [NCIT:C117104]
synonym: "bullous systemic lupus erythematosus" EXACT [NCIT:C117104]
xref: MEDGEN:592738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117104 {source="MONDO:equivalentTo"}
xref: Orphanet:46489 {source="MONDO:equivalentObsolete"}
xref: SCTID:239889005 {source="MONDO:equivalentTo"}
xref: UMLS:C0409977 {source="MEDGEN:592738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005282 ! cutaneous lupus erythematosus
is_a: MONDO:0007915 {source="NCIT:C117104"} ! systemic lupus erythematosus

[Term]
id: MONDO:0044137
name: vitreous body disorder
def: "Any disease affecting the vitreous body of the eye." [NCIT:C45256]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of vitreous body" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of vitreous body" EXACT []
synonym: "disorder of vitreous body" EXACT [MONDO:patterns/location_top]
synonym: "vitreous body disease" EXACT [MONDO:design_pattern]
synonym: "vitreous body disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "vitreous body disorder" EXACT [NCIT:C45256]
xref: EFO:0008624 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:H43-H44 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:379.29
xref: MEDGEN:56361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45256 {source="MONDO:equivalentTo"}
xref: SCTID:76682005 {source="MONDO:equivalentTo"}
xref: UMLS:C0155365 {source="MONDO:equivalentTo", source="MEDGEN:56361", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="EFO:0008624", source="MONDO:Redundant", source="NCIT:C45256"} ! eye disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001798 ! vitreous body

[Term]
id: MONDO:0044138
name: hyalitis
def: "Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina." [NCIT:C50587]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hyalitis" EXACT [NCIT:C50587]
synonym: "hyaloiditis" EXACT [NCIT:C50587]
synonym: "Vitreitis" EXACT [NCIT:C50587]
synonym: "Vitritis" EXACT [NCIT:C50587]
synonym: "vitritis" EXACT []
xref: MEDGEN:68620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C50587 {source="MONDO:equivalentTo"}
xref: SCTID:95802009 {source="MONDO:equivalentTo"}
xref: UMLS:C0235812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68620"}
is_a: MONDO:0006806 ! intermediate uveitis
is_a: MONDO:0044137 {source="NCIT:C50587"} ! vitreous body disorder

[Term]
id: MONDO:0044141
name: panic disorder without agoraphobia
def: "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." [NCIT:C97193]
synonym: "panic disorder without agoraphobia" EXACT [NCIT:C97193]
xref: MEDGEN:472968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97193 {source="MONDO:equivalentTo"}
xref: SCTID:56576003 {source="MONDO:equivalentTo"}
xref: UMLS:C0236794 {source="MEDGEN:472968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005383 {source="EFO:1001906"} ! panic disorder
is_a: MONDO:0005618 {source="EFO:1001906/inferred", source="NCIT:C97193"} ! anxiety disorder
disjoint_from: MONDO:0044144 ! panic disorder with agoraphobia

[Term]
id: MONDO:0044144
name: panic disorder with agoraphobia
def: "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder." [NCIT:C97194]
synonym: "panic disorder with agoraphobia" EXACT [NCIT:C97194]
xref: MEDGEN:472969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97194 {source="MONDO:equivalentTo"}
xref: SCTID:35607004 {source="MONDO:equivalentTo"}
xref: UMLS:C0236800 {source="MEDGEN:472969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005618 {source="NCIT:C97194"} ! anxiety disorder
intersection_of: MONDO:0003709 ! agoraphobia
intersection_of: MONDO:0005383 ! panic disorder

[Term]
id: MONDO:0044200
name: T-B+ severe combined immunodeficiency
def: "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." [Orphanet:317416]
comment: Editor note: add logical definition
subset: disease_grouping
subset: gard_rare {source="GARD:21405", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:317416"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "T-B+ SCID" EXACT [Orphanet:317416]
synonym: "T-cell negative B-cell positive SCID" EXACT []
xref: GARD:21405 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:317416"}
xref: MEDGEN:1842847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:317416 {source="MONDO:equivalentTo"}
xref: UMLS:C5679894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842847"}
is_a: MONDO:0015974 {source="Orphanet:317416"} ! severe combined immunodeficiency
disjoint_from: MONDO:0044201 ! T+ B+ severe combined immunodeficiency

[Term]
id: MONDO:0044201
name: T+ B+ severe combined immunodeficiency
comment: Reason of obsoletion: grouping class - MONDO:excludeGroupingClass. Term to consider: combined immunodeficiency-MONDO:0015131
subset: disease_grouping
subset: gard_rare {source="GARD:21636", source="MONDO:GARD"}
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:397802"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "T+B+ SCID" EXACT []
synonym: "T-cell positive B-cell positive SCID" EXACT []
xref: GARD:21636 {source="MONDO:GARD"}
xref: ICD10CM:D81.2 {source="Orphanet:397802"}
xref: MEDGEN:1842248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:397802 {source="MONDO:equivalentTo"}
xref: UMLS:C5681156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842248"}
is_a: MONDO:0015974 {source="Orphanet:397802"} ! severe combined immunodeficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7461" xsd:anyURI
property_value: IAO:0006012 "2024-06-01" xsd:string

[Term]
id: MONDO:0044202
name: episodic kinesigenic dyskinesia
def: "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." [Orphanet:98809]
subset: gard_rare {source="GARD:8721", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98809"}
subset: orphanet_rare {source="Orphanet:98809"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EKD" BROAD ABBREVIATION [OMIMPS:128200]
synonym: "familial paroxysmal kinesigenic dyskinesia" EXACT [Orphanet:98809]
synonym: "familial PKD" EXACT [Orphanet:98809]
synonym: "paroxysmal kinesigenic choreathetosis" EXACT [Orphanet:98809]
xref: GARD:8721 {source="MONDO:GARD"}
xref: MEDGEN:358268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:128200 {source="MONDO:equivalentTo"}
xref: Orphanet:98809 {source="DOID:0090053", source="OMIM:128200", source="MONDO:equivalentTo"}
xref: UMLS:C1868682 {source="MEDGEN:358268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015427 {source="https://orcid.org/0000-0002-6601-2165"} ! paroxysmal dyskinesia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:128200"} ! inherited

[Term]
id: MONDO:0044203
name: foveal hypoplasia
def: "Underdevelopment of the fovea centralis." [HP:0007750]
subset: otar {source="MONDO:OTAR"}
synonym: "FVH" RELATED ABBREVIATION [MONDO:Lexical]
xref: MEDGEN:393047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:136520 {source="MONDO:equivalentTo"}
xref: UMLS:C2673946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393047"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:136520"} ! inherited

[Term]
id: MONDO:0044204
name: Shwachman-Diamond syndrome 1
subset: gard_rare {source="GARD:15221", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400]
synonym: "pancreatic insufficiency and bone marrow dysfunction" RELATED [OMIM:260400]
synonym: "SDS1" RELATED ABBREVIATION [OMIM:260400]
synonym: "Shwachman-Bodian syndrome" RELATED [OMIM:260400]
synonym: "Shwachman-Diamond syndrome" RELATED [OMIM:260400]
synonym: "Shwachman-Diamond syndrome 1" EXACT [OMIM:260400]
xref: GARD:15221 {source="MONDO:GARD"}
xref: MEDGEN:1640046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:260400 {source="MONDO:equivalentTo"}
xref: Orphanet:811 {source="OMIM:260400"}
xref: UMLS:C4692625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640046"}
is_a: MONDO:0009833 {source="OMIM:260400"} ! Shwachman-Diamond syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19440 {source="MONDO:mim2gene_medgen"} ! SBDS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0044205
name: Shwachman-Diamond syndrome 2
def: "Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400)." [OMIM:617941]
subset: gard_rare {source="GARD:16272", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SDS2" RELATED ABBREVIATION [OMIM:617941]
synonym: "Shwachman-Diamond syndrome 2" EXACT [OMIM:617941]
xref: GARD:16272 {source="MONDO:GARD"}
xref: MEDGEN:1634617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617941 {source="MONDO:equivalentTo"}
xref: UMLS:C4693704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634617"}
is_a: MONDO:0009833 {source="OMIM:617941"} ! Shwachman-Diamond syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0044206
name: otospondylomegaepiphyseal dysplasia, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodystrophy with sensorineural deafness" RELATED [OMIM:215150]
synonym: "Nance-Insley syndrome" RELATED [OMIM:215150]
synonym: "Nance-Sweeney chondrodysplasia" RELATED [OMIM:215150]
synonym: "OSMED" RELATED ABBREVIATION [OMIM:215150]
synonym: "OSMEDB" RELATED ABBREVIATION [OMIM:215150]
synonym: "otospondylomegaepiphyseal dysplasia, autosomal recessive" EXACT [OMIM:215150]
synonym: "Weissenbacher-Zweymuller syndrome" RELATED [OMIM:215150]
synonym: "Weissenbacher-Zweymuller syndrome, formerly" RELATED [OMIM:215150]
xref: MEDGEN:1790497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:215150 {source="MONDO:equivalentTo"}
xref: Orphanet:1427 {source="OMIM:215150"}
xref: UMLS:C5551484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790497"}
is_a: MONDO:0008975 {source="OMIM:215150"} ! otospondylomegaepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0044207
name: specific granule deficiency 1
def: "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CEBPE specific granule deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480]
synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480]
synonym: "SGD1" RELATED ABBREVIATION [OMIM:245480]
synonym: "specific granule deficiency" BROAD [OMIM:245480, OMIM:genemap2]
synonym: "specific granule deficiency 1" EXACT CLINGEN_LABEL [OMIM:245480]
synonym: "specific granule deficiency caused by mutation in CEBPE" EXACT [MONDO:design_pattern]
xref: MEDGEN:1644049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:245480 {source="MONDO:equivalentTo"}
xref: Orphanet:169142 {source="OMIM:245480"}
xref: UMLS:C4551556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644049"}
is_a: MONDO:0009506 {source="MONDO:Redundant", source="OMIM:245480"} ! specific granule deficiency
intersection_of: MONDO:0009506 ! specific granule deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1836 ! CEBPE
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1836 {source="MONDO:mim2gene_medgen"} ! CEBPE
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0044208
name: specific granule deficiency 2
def: "Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480)." [OMIM:617475]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SGD2" RELATED ABBREVIATION [OMIM:617475]
synonym: "specific granule deficiency 2" EXACT [OMIM:617475]
xref: MEDGEN:1371952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617475 {source="MONDO:equivalentTo"}
xref: Orphanet:169142 {source="OMIM:617475"}
xref: UMLS:C4479548 {source="MEDGEN:1371952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009506 {source="OMIM:617475"} ! specific granule deficiency

[Term]
id: MONDO:0044209
name: disorder of lectin complement activation pathway
def: "A disease that has its basis in the disruption of complement activation, lectin pathway." [MONDO:patterns/basis_in_disruption_of_process]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "complement activation, lectin pathway disease" EXACT []
synonym: "disorder of complement activation, lectin pathway" EXACT [MONDO:patterns/basis_in_disruption_of_process]
xref: OMIMPS:614372 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0001867 ! complement activation, lectin pathway
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614372"} ! inherited

[Term]
id: MONDO:0044210
name: thalassemia minor
def: "The inheritance of only one mutated beta-globin allele (beta+ or beta0)." [SCDO:0000114]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "beta thalassemia trait" EXACT [SCDO:0000114]
xref: DOID:0080774 {source="MONDO:equivalentTo"}
xref: ICD10CM:D56.3 {source="MONDO:equivalentTo"}
xref: MedDRA:10054662
xref: MEDGEN:450549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCDO:0000114 {source="MONDO:equivalentTo"}
xref: SCTID:19442009 {source="MONDO:equivalentTo"}
xref: UMLS:C0869532 {source="MEDGEN:450549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000984 {source="ICD10CM:D56.3"} ! thalassemia
is_a: MONDO:0013517 {source="SCDO:0000114", source="https://github.com/monarch-initiative/mondo/issues/1756"} ! beta-thalassemia HBB/LCRB

[Term]
id: MONDO:0044211
name: idiopathic urticaria
subset: otar {source="MONDO:OTAR"}
synonym: "idiopathic angioedema-urticaria" RELATED []
xref: ICD10CM:L50.1 {source="MONDO:equivalentTo"}
xref: ICD9:708.1
xref: MEDGEN:510411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:42265009 {source="MONDO:equivalentTo"}
xref: UMLS:C0157741 {source="MEDGEN:510411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005492 {source="ICD10CM:L50.1"} ! urticaria
intersection_of: MONDO:0005492 ! urticaria
intersection_of: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0044212
name: chronic idiopathic urticaria
def: "Chronic form of idiopathic urticaria." [MONDO:patterns/chronic]
synonym: "chronic idiopathic urticaria" EXACT []
synonym: "chronic spontaneous urticaria" EXACT [DOID:0080749]
synonym: "idiopathic urticaria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic]
xref: DOID:0080749 {source="MONDO:equivalentTo"}
xref: MEDGEN:662267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:302162004 {source="MONDO:equivalentTo"}
xref: UMLS:C0578870 {source="MONDO:equivalentTo", source="MEDGEN:662267", source="MONDO:MEDGEN"}
is_a: MONDO:0044211 {source="MONDO:Redundant"} ! idiopathic urticaria
intersection_of: MONDO:0044211 ! idiopathic urticaria
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0044213
name: acute idiopathic urticaria
def: "Acute form of idiopathic urticaria." [MONDO:patterns/acute]
synonym: "acute idiopathic urticaria" EXACT []
synonym: "idiopathic urticaria, acute" EXACT [MONDO:patterns/acute]
xref: MEDGEN:662266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:302161006 {source="MONDO:equivalentTo"}
xref: UMLS:C0578869 {source="MEDGEN:662266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0044211 ! idiopathic urticaria
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0044214
name: obsolete androstenone, ability to smell
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "ANDROSTENONE, ability to smell" RELATED [OMIM:105570]
xref: OMIM:105570 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044215
name: obsolete arm folding preference
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "ARM folding preference" RELATED [OMIM:107850]
xref: OMIM:107850 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044216
name: obsolete artichoke, modification of taste by
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "artichoke, modification of taste by" RELATED [OMIM:108320]
xref: OMIM:108320 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044217
name: obsolete asparagus, specific smell hypersensitivity
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "asparagus, specific smell hypersensitivity" RELATED [OMIM:108390]
xref: OMIM:108390 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044218
name: obsolete beeturia
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BEETURIA" RELATED ABBREVIATION [OMIM:109600]
synonym: "Betacyaninuria" RELATED [OMIM:109600]
xref: OMIM:109600 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044219
name: obsolete blood group, duffy system
def: "OBSOLETE. The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)})." [OMIM:110700]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, DUFFY system" RELATED [OMIM:110700]
synonym: "blood group, Duffy system" EXACT [OMIM:110700, OMIM:genemap2]
synonym: "Duffy blood Group system" RELATED [OMIM:110700]
synonym: "FY" RELATED ABBREVIATION [OMIM:110700]
synonym: "Plasmodium vivax, resistance to" RELATED [OMIM:110700]
xref: OMIM:110700 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044220
name: obsolete blood group, 1 system
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "adult I phenotype" RELATED [OMIM:110800]
synonym: "blood group, I system" RELATED [OMIM:110800]
synonym: "blood group, Ii" EXACT [OMIM:110800, OMIM:genemap2]
synonym: "I blood Group system" RELATED [OMIM:110800]
synonym: "II" RELATED ABBREVIATION [OMIM:110800]
synonym: "II blood Group system" RELATED [OMIM:110800]
xref: OMIM:110800 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044221
name: obsolete blood group--lutheran inhibitor
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group--Lutheran INHIBITOR" RELATED [OMIM:111150]
synonym: "dominant 50U (A-B-) phenotype" RELATED [OMIM:111150]
synonym: "INLU" RELATED ABBREVIATION [OMIM:111150]
xref: OMIM:111150 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044222
name: obsolete blood group, p1pk system
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, P1PK system" RELATED [OMIM:111400]
synonym: "blood group, P1Pk system, p phenotype" EXACT [OMIM:111400, OMIM:genemap2]
synonym: "blood group, P1Pk system, P(2) phenotype" EXACT [OMIM:111400, OMIM:genemap2]
synonym: "blood group, P1PK system, P(k) phenotype" EXACT [OMIM:111400, OMIM:genemap2]
synonym: "Nor Polyagglutination syndrome" RELATED [OMIM:111400]
synonym: "P phenotype" RELATED [OMIM:111400]
synonym: "P(1) phenotype" RELATED [OMIM:111400]
synonym: "P(2) phenotype" RELATED [OMIM:111400]
synonym: "P1(K) phenotype" RELATED [OMIM:111400]
synonym: "P2(K) phenotype" RELATED [OMIM:111400]
xref: OMIM:111400 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044223
name: obsolete radin blood group antigen
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, Radin" EXACT [OMIM:111620, OMIM:genemap2]
synonym: "blood Group--Radin antigen" RELATED [OMIM:111620]
synonym: "RADIN blood group antigen" RELATED [OMIM:111620]
synonym: "RD" RELATED ABBREVIATION [OMIM:111620]
xref: OMIM:111620 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044224
name: obsolete apocrine gland secretion, variation 1n
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "apocrine gland secretion, variation IN" RELATED [OMIM:117800]
synonym: "axillary odor, variation 1N" RELATED [OMIM:117800]
synonym: "axillary odor, variation in" EXACT [OMIM:117800, OMIM:genemap2]
synonym: "cerumen, variation 1N" RELATED [OMIM:117800]
synonym: "colostrum secretion, variation 1N" RELATED [OMIM:117800]
synonym: "colostrum secretion, variation in" EXACT [OMIM:117800, OMIM:genemap2]
synonym: "Ear wax, wet/dry" RELATED [OMIM:117800]
synonym: "earwax, wet/dry" EXACT [OMIM:117800, OMIM:genemap2]
synonym: "wet wax" RELATED [OMIM:117800]
xref: OMIM:117800 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044225
name: obsolete creatine kinase, brain type, ectopic expression of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "CKBE" RELATED ABBREVIATION [OMIM:123270]
synonym: "creatine KINASE, brain type, ectopic expression OF" RELATED [OMIM:123270]
xref: HGNC:1992 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044226
name: obsolete defective interfering particle induction, control of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "defective interfering particle induction, control OF" RELATED [OMIM:125260]
synonym: "Dipi, control of" RELATED [OMIM:125260]
synonym: "homologous viral interference" RELATED [OMIM:125260]
synonym: "vesicular stomatitis Virus defective interfering particle repressor" RELATED [OMIM:125260]
xref: HGNC:12678 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044227
name: obsolete dimples, facial
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "cheek dimples" RELATED [OMIM:126100]
synonym: "dimples, FACIAL" RELATED [OMIM:126100]
synonym: "smiling dimples" RELATED [OMIM:126100]
xref: OMIM:126100 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044228
name: obsolete eegbqtl
def: "OBSOLETE. Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." [OMIM:130190]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "EEGBQTL" RELATED ABBREVIATION [OMIM:130190]
synonym: "ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus" RELATED [OMIM:130190]
xref: OMIM:130190 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044229
name: obsolete epiblepharon of lower 51d
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "epiblepharon of lower lid" RELATED [OMIM:131450]
xref: OMIM:131450 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044230
name: obsolete epiblepharon of upper 51d
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "epiblepharon of upper lid" RELATED [OMIM:131460]
xref: OMIM:131460 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044231
name: obsolete eyebrow, whorl 1n
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "eyebrow, whorl in" RELATED [OMIM:133800]
xref: OMIM:133800 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044232
name: obsolete fingers, relative length of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "2D:4D finger-length ratio" RELATED [OMIM:136100]
synonym: "fingers, relative length OF" RELATED [OMIM:136100]
xref: OMIM:136100 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044233
name: obsolete hair whorl
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Cowlick" RELATED [OMIM:139400]
synonym: "Double hair whorl" RELATED [OMIM:139400]
synonym: "hair whorl" RELATED [OMIM:139400]
xref: OMIM:139400 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044234
name: obsolete hrm2
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "curly hair" RELATED [OMIM:139450]
synonym: "hair curvature, variation 1N" RELATED [OMIM:139450]
synonym: "hair morphology 2" RELATED [OMIM:139450]
synonym: "hair, curly" EXACT [OMIM:139450, OMIM:genemap2]
synonym: "HRM2" RELATED ABBREVIATION [OMIM:139450]
xref: OMIM:139450 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044235
name: obsolete hsr
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "hand skill, relative" RELATED [OMIM:139900]
synonym: "Handedness" EXACT [OMIM:139900, OMIM:genemap2]
synonym: "handedness" RELATED [OMIM:139900]
synonym: "HSR" RELATED ABBREVIATION [OMIM:139900]
xref: OMIM:139900 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044236
name: obsolete hepatitis b vaccine, response to
def: "OBSOLETE. More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010})." [OMIM:142395]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "HBV vaccine, response to" RELATED [OMIM:142395]
synonym: "HEPATITIS B vaccine, response to" RELATED [OMIM:142395]
xref: OMIM:142395 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044237
name: obsolete hypercholesterolemia suppressor
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "hypercholesterolemia suppressor" RELATED [OMIM:144020]
xref: OMIM:144020 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044238
name: obsolete lunulae of fingernails
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "lunulae of fingernails" RELATED [OMIM:152600]
xref: OMIM:152600 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044239
name: obsolete median-ulnar nerve communications
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Martin-Gruber Median-ulnar anastomosis" RELATED [OMIM:155150]
synonym: "median-ulnar nerve communications" RELATED [OMIM:155150]
xref: OMIM:155150 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044240
name: obsolete musical perfect pitch
def: "OBSOLETE. Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." [OMIM:159300]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "absolute pitch" RELATED [OMIM:159300]
synonym: "musical perfect pitch" RELATED [OMIM:159300]
xref: OMIM:159300 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044241
name: obsolete mydriatic response to pharmacologic agents
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "mydriatic response to pharmacologic agents" RELATED [OMIM:159410]
xref: OMIM:159410 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044242
name: obsolete mydriasis, congenital
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "mydriasis, congenital" RELATED [OMIM:159420]
xref: OMIM:159420 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044243
name: obsolete nail high-sulfur protein
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "nail high-sulfur PROTEIN" RELATED [OMIM:161070]
xref: OMIM:161070 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044244
name: obsolete nail low-sulfur protein
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "nail LOW-sulfur PROTEIN" RELATED [OMIM:161080]
xref: OMIM:161080 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044245
name: obsolete nailbeds, pigmentation of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "NAILBEDS, pigmentation OF" RELATED [OMIM:161100]
xref: OMIM:161100 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044246
name: obsolete nystagmus, voluntary
def: "OBSOLETE. Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." [OMIM:164170]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "NYSTAGMUS, voluntary" RELATED [OMIM:164170]
xref: OMIM:164170 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044247
name: obsolete palmomental reflex
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "PALMOMENTAL reflex" RELATED [OMIM:167700]
xref: OMIM:167700 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044248
name: obsolete thiourea tasting
def: "OBSOLETE. The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995})." [OMIM:171200]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Phenylthiocarbamide tasting" RELATED [OMIM:171200]
synonym: "phenylthiocarbamide tasting" EXACT [OMIM:171200, OMIM:genemap2]
synonym: "prop tasting" RELATED [OMIM:171200]
synonym: "Propylthiouracil tasting" RELATED [OMIM:171200]
synonym: "ptc tasting" RELATED [OMIM:171200]
synonym: "THIOT" RELATED ABBREVIATION [OMIM:171200]
synonym: "thiourea tasting" RELATED [OMIM:171200]
xref: OMIM:171200 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044249
name: obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "alkaline phosphatase, elevated serum" RELATED [OMIM:171720]
synonym: "alkaline phosphatase, plasma level of, QTL1" EXACT [OMIM:171720, OMIM:genemap2]
synonym: "alkaline phosphatase, plasma level OF, quantitative trait locus 1" RELATED [OMIM:171720]
synonym: "Alpqtl1" RELATED [OMIM:171720]
synonym: "hyperphosphatasemia, benign familial" RELATED [OMIM:171720]
xref: OMIM:171720 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044250
name: obsolete tongue curling, folding, or rolling
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "cloverleaf tongue" RELATED [OMIM:189300]
synonym: "tongue curling, folding, or rolling" RELATED [OMIM:189300]
synonym: "trefoil tongue" RELATED [OMIM:189300]
xref: OMIM:189300 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044251
name: obsolete australia antigen
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Australia antigen" RELATED [OMIM:209800]
xref: OMIM:209800 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044252
name: obsolete skin/hair/eye pigmentation, variation in, 6
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "SHEP6" RELATED ABBREVIATION [OMIM:210750]
synonym: "skin/hair/eye pigmentation 6, Blond/Brown hair" RELATED [OMIM:210750]
synonym: "skin/hair/eye pigmentation 6, blond/brown hair" EXACT [OMIM:210750, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation 6, blue/Green eyes" RELATED [OMIM:210750]
synonym: "skin/hair/eye pigmentation 6, blue/green eyes" EXACT [OMIM:210750, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation, variation IN, 6" RELATED [OMIM:210750]
xref: OMIM:210750 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044253
name: obsolete dermatoglyphics--palmar triradius d, absence of
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "dermatoglyphics--palmar triradius d, absence of" RELATED [OMIM:221760]
xref: OMIM:221760 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044254
name: obsolete dermatoglyphics--hypothenar radial arch
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "dermatoglyphics--hypothenar radial arch" RELATED [OMIM:221780]
xref: OMIM:221780 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044255
name: obsolete skin/hair/eye pigmentation, variation in, 1
def: "OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501)." [OMIM:227220]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Brown eye color 2" RELATED [OMIM:227220]
synonym: "eye color 3" RELATED [OMIM:227220]
synonym: "eye color, blue/Nonblue" RELATED [OMIM:227220]
synonym: "eye color, Brown/blue" RELATED [OMIM:227220]
synonym: "hair color 3" RELATED [OMIM:227220]
synonym: "SHEP1" RELATED ABBREVIATION [OMIM:227220]
synonym: "skin/hair/eye pigmentation 1, Blond/Brown hair" RELATED [OMIM:227220]
synonym: "skin/hair/eye pigmentation 1, blond/brown hair" EXACT [OMIM:227220, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation 1, blue/Brown eyes" RELATED [OMIM:227220]
synonym: "skin/hair/eye pigmentation 1, blue/Nonblue eyes" RELATED [OMIM:227220]
synonym: "skin/hair/eye pigmentation 1, blue/nonblue eyes" EXACT [OMIM:227220, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation, variation IN, 1" RELATED [OMIM:227220]
xref: OMIM:227220 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044256
name: obsolete skin/hair/eye pigmentation, variation in, 5
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "SHEP5" RELATED ABBREVIATION [OMIM:227240]
synonym: "skin/hair/eye pigmentation 5, Black/nonblack hair" RELATED [OMIM:227240]
synonym: "skin/hair/eye pigmentation 5, black/nonblack hair" EXACT [OMIM:227240, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation 5, dark/fair skin" EXACT [OMIM:227240, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation 5, dark/light eyes" EXACT [OMIM:227240, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation, variation IN, 5" RELATED [OMIM:227240]
xref: OMIM:227240 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044257
name: obsolete lutheran null
def: "OBSOLETE. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported." [OMIM:247420]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, Lutheran null" EXACT [OMIM:247420, OMIM:genemap2]
synonym: "Lutheran null" RELATED [OMIM:247420]
synonym: "recessive 50U (A-B-) phenotype" RELATED [OMIM:247420]
xref: OMIM:247420 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044258
name: obsolete methane production
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "methane production" RELATED [OMIM:250650]
xref: OMIM:250650 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044259
name: obsolete skin/hair/eye pigmentation, variation in, 2
def: "OBSOLETE. Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action." [OMIM:266300]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Blond hair/fair skin" RELATED [OMIM:266300]
synonym: "hair color 2" RELATED [OMIM:266300]
synonym: "Red hair color" RELATED [OMIM:266300]
synonym: "Rha" RELATED [OMIM:266300]
synonym: "SHEP2" RELATED ABBREVIATION [OMIM:266300]
synonym: "skin/hair/eye pigmentation 2, blond hair/fair skin" EXACT [OMIM:266300, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation 2, red hair/fair skin" EXACT [OMIM:266300, OMIM:genemap2]
synonym: "skin/hair/eye pigmentation, variation IN, 2" RELATED [OMIM:266300]
synonym: "UV-induced skin damage" EXACT [OMIM:266300, OMIM:genemap2]
synonym: "UV-induced skin damage, susceptibility to" RELATED [OMIM:266300]
xref: OMIM:266300 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044260
name: obsolete ec1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "EC1" RELATED ABBREVIATION [OMIM:272370]
synonym: "natural Killer cell susceptibility 1" RELATED [OMIM:272370]
synonym: "susceptibility to lysis by ALLOREACTIVE natural KILLER cells" RELATED [OMIM:272370]
xref: HGNC:7832 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044261
name: obsolete menoq1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "menopause, natural, age at, QTL1, X-linked dominant" EXACT [OMIM:300488, OMIM:genemap2]
synonym: "menopause, natural, AGE AT, quantitative trait locus 1" RELATED [OMIM:300488]
synonym: "MENOQ1" RELATED ABBREVIATION [OMIM:300488]
xref: OMIM:300488 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044262
name: obsolete cyanide, inability to smell
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "cyanide, inability to smell" RELATED [OMIM:304300]
xref: OMIM:304300 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044263
name: obsolete lutheran suppressor, x-linked
def: "OBSOLETE. An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420." [OMIM:309050]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Lutheran suppressor, X-linked" RELATED [OMIM:309050]
synonym: "LuxS" RELATED [OMIM:309050]
synonym: "XS" RELATED ABBREVIATION [OMIM:309050]
xref: HGNC:12837 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044264
name: obsolete radial loop, plain, on right index finger
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "radial loop, plain, ON right index finger" RELATED [OMIM:312200]
xref: OMIM:312200 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044265
name: obsolete tooth size
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "tooth size" RELATED [OMIM:314240]
xref: OMIM:314240 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044266
name: obsolete xm system
def: "OBSOLETE. Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." [OMIM:314900]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "XM system" RELATED [OMIM:314900]
xref: HGNC:12813 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044267
name: obsolete gcy
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "GCY" RELATED ABBREVIATION [OMIM:475000]
synonym: "growth control, Y-chromosome influenced" RELATED [OMIM:475000]
synonym: "stature" RELATED [OMIM:475000]
synonym: "tooth size" RELATED [OMIM:475000]
xref: HGNC:4211 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044268
name: obsolete transsexuality
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "TRANSSEXUALITY" RELATED ABBREVIATION [OMIM:600952]
xref: OMIM:600952 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044269
name: obsolete novelty seeking personality trait
def: "OBSOLETE. Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related." [OMIM:601696]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "novelty seeking personality trait" RELATED [OMIM:601696]
synonym: "risk-taking behavior" RELATED [OMIM:601696]
xref: OMIM:601696 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044270
name: obsolete bilirubin, serum level of, quantitative trait locus 1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BILIQTL1" RELATED ABBREVIATION [OMIM:601816]
synonym: "bilirubin, serum level of, QTL1" EXACT [OMIM:601816, OMIM:genemap2]
synonym: "bilirubin, serum level OF, quantitative trait locus 1" RELATED [OMIM:601816]
xref: OMIM:601816 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044271
name: obsolete bone mineral density quantitative trait locus 1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BMND1" RELATED ABBREVIATION [OMIM:601884]
synonym: "bone mineral density quantitative trait locus 1" RELATED [OMIM:601884]
synonym: "bone mineral density variability 1" EXACT [OMIM:601884, OMIM:genemap2]
synonym: "high bone Mass" RELATED [OMIM:601884]
synonym: "osteoporosis, susceptibility to" RELATED [OMIM:601884]
xref: OMIM:601884 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044272
name: obsolete body mass index quantitative trait locus 9
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BMIQ9" RELATED ABBREVIATION [OMIM:602025]
synonym: "body MASS index quantitative trait locus 9" RELATED [OMIM:602025]
synonym: "obesity, severe, susceptibility to, BMIQ9" EXACT [OMIM:602025, OMIM:genemap2]
synonym: "obesity, susceptibility to" RELATED [OMIM:602025]
xref: OMIM:602025 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044273
name: obsolete hypertension, diastolic, resistance to
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "hypertension, diastolic, resistance to" RELATED [OMIM:608622]
xref: OMIM:608622 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044274
name: obsolete hemoglobin, high altitude adaptation
def: "OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014})." [OMIM:609070]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "HALAH" RELATED ABBREVIATION [OMIM:609070]
synonym: "HEMOGLOBIN, high altitude adaptation" RELATED [OMIM:609070]
synonym: "hemoglobin, high altitude adaptation" EXACT [OMIM:609070, OMIM:genemap2]
synonym: "Hemoglobin, high oxygen saturation of" RELATED [OMIM:609070]
xref: OMIM:609070 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044275
name: obsolete carotid intimal medial thickness 1
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "carotid intimal medial thickness 1" RELATED [OMIM:609338]
synonym: "Cimt1" RELATED [OMIM:609338]
synonym: "intimal medial thickness of internal carotid artery" RELATED [OMIM:609338]
xref: OMIM:609338 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044276
name: obsolete skin/hair/eye pigmentation, variation in, 11
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "Melanesian blond hair" RELATED [OMIM:612271]
synonym: "SHEP11" RELATED ABBREVIATION [OMIM:612271]
synonym: "skin/hair/eye pigmentation 11, blue/Nonblue eyes" RELATED [OMIM:612271]
synonym: "skin/hair/eye pigmentation, variation IN, 11" RELATED [OMIM:612271]
synonym: "skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)" EXACT [OMIM:612271, OMIM:genemap2]
xref: OMIM:612271 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044277
name: obsolete uric acid concentration, serum, quantitative trait locus 4
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "gout susceptibility 4" RELATED [OMIM:612671]
synonym: "UAQTL4" RELATED ABBREVIATION [OMIM:612671]
synonym: "Uric acid concentration, serum, QTL4" EXACT [OMIM:612671, OMIM:genemap2]
synonym: "uric acid concentration, serum, quantitative trait locus 4" RELATED [OMIM:612671]
xref: OMIM:612671 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044278
name: obsolete short sleeper
def: "OBSOLETE. In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset." [OMIM:612975]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "short sleep phenotype" RELATED [OMIM:612975]
synonym: "short sleeper" RELATED [OMIM:612975]
xref: OMIMPS:612975 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0044279
name: obsolete bone mineral density quantitative trait locus 15
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BMND15" RELATED ABBREVIATION [OMIM:613418]
synonym: "bone mineral density QTL 15" EXACT [OMIM:613418, OMIM:genemap2]
synonym: "bone mineral density quantitative trait locus 15" RELATED [OMIM:613418]
synonym: "compression fracture, susceptibility to" RELATED [OMIM:613418]
synonym: "metaphyseal fracture, susceptibility to" RELATED [OMIM:613418]
synonym: "osteoporosis, susceptibility to" RELATED [OMIM:613418]
xref: OMIM:613418 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044280
name: obsolete glycerol quantitative trait locus
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "body Mass index quantitative trait locus 17" RELATED [OMIM:614411]
synonym: "GLYCEROL quantitative trait locus" RELATED [OMIM:614411]
synonym: "glycerol quantitative trait locus" EXACT [OMIM:614411, OMIM:genemap2]
synonym: "Glycerol release during exercise, defective" RELATED [OMIM:614411]
synonym: "GLYCQTL" RELATED ABBREVIATION [OMIM:614411]
xref: OMIM:614411 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044281
name: obsolete c3hex, ability to smell
def: "OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." [OMIM:615082]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "C3HEX, ability to smell" EXACT [OMIM:615082, OMIM:genemap2]
xref: OMIM:615082 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044282
name: obsolete blood group, vel system
def: "OBSOLETE. The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013})." [OMIM:615264]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, VEL system" RELATED [OMIM:615264]
synonym: "blood group, Vel system" EXACT [OMIM:615264, OMIM:genemap2]
synonym: "VEL" RELATED ABBREVIATION [OMIM:615264]
synonym: "Vel-null phenotype" RELATED [OMIM:615264]
xref: OMIM:615264 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044283
name: obsolete body mass index quantitative trait locus 18
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "BMIQ18" RELATED ABBREVIATION [OMIM:615457]
synonym: "body MASS index quantitative trait locus 18" RELATED [OMIM:615457]
synonym: "obesity, susceptibility to" RELATED [OMIM:615457]
synonym: "obesity, susceptibility to, BMIQ18" EXACT [OMIM:615457, OMIM:genemap2]
xref: OMIM:615457 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044284
name: obsolete blood group, gerbich system
def: "OBSOLETE. The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010})." [OMIM:616089]
comment: Obsoleted as it represents a trait or is a legacy entry
synonym: "blood group, Gerbich" EXACT [OMIM:616089, OMIM:genemap2]
synonym: "blood group, Gerbich system" RELATED [OMIM:616089]
synonym: "GE" RELATED ABBREVIATION [OMIM:616089]
synonym: "Gerbich blood Group system" RELATED [OMIM:616089]
xref: OMIM:616089 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044299
name: myasthenic syndrome, congenital, 22
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMS22" RELATED ABBREVIATION [OMIM:616224]
synonym: "myasthenic syndrome, congenital, 22" EXACT CLINGEN_LABEL [OMIM:616224]
synonym: "Prepl deficiency" RELATED [OMIM:616224]
xref: DOID:0080587 {source="MONDO:equivalentTo"}
xref: MEDGEN:1393545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616224 {source="MONDO:equivalentTo"}
xref: Orphanet:590 {source="OMIM:616224"}
xref: UMLS:C4479088 {source="MEDGEN:1393545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018940 {source="OMIM:616224"} ! congenital myasthenic syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0044300
name: familial adenomatous polyposis 4
def: "An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur." [https://orcid.org/0000-0002-6601-2165, OMIM:617100]
subset: gard_rare {source="GARD:17868", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:480536"}
subset: rare
synonym: "familial adenomatous polyposis 4" EXACT [OMIM:617100]
synonym: "familial adenomatous polyposis type 4" EXACT [MONDORULE:1, OMIM:617100]
synonym: "FAP4" EXACT ABBREVIATION [OMIM:617100]
synonym: "MSH3-related AFAP" EXACT [Orphanet:480536]
synonym: "MSH3-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40023/, MONDO:0018812]
synonym: "MSH3-related attenuated familial polyposis coli" EXACT [Orphanet:480536]
synonym: "MSH3-related attenuated FAP" EXACT [Orphanet:480536]
xref: DOID:0080412 {source="MONDO:equivalentTo"}
xref: GARD:17868 {source="MONDO:GARD"}
xref: MEDGEN:934686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617100 {source="MONDO:equivalentTo"}
xref: Orphanet:480536 {source="MONDO:equivalentTo", source="OMIM:617100"}
xref: UMLS:C4310719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934686"}
is_a: MONDO:0016362 {source="Orphanet:480536", source="https://orcid.org/0000-0002-6601-2165"} ! attenuated familial adenomatous polyposis
is_a: MONDO:0021055 {source="OMIM:617100"} ! classic familial adenomatous polyposis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6909" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0044301
name: aortic aneurysm, familial thoracic 11, susceptibility to
subset: predisposition
synonym: "AAT11" RELATED ABBREVIATION [OMIM:617349]
synonym: "aortic aneurysm, familial thoracic 11, susceptibility to" EXACT [OMIM:617349]
xref: MEDGEN:1377970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617349 {source="MONDO:equivalentTo"}
xref: UMLS:C4479235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1377970"}
is_a: MONDO:0020573 {source="OMIM:617349"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0019625 {source="OMIM:617349", source="https://orcid.org/0000-0001-5208-3432"} ! familial thoracic aortic aneurysm and aortic dissection
relationship: predisposes_towards MONDO:0005396 ! thoracic aortic aneurysm

[Term]
id: MONDO:0044302
name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:646278"}
subset: orphanet_rare {source="Orphanet:646278"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:646278]
synonym: "CHDFIDD" RELATED ABBREVIATION [OMIM:617360]
synonym: "congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder" RELATED [OMIM:617360]
xref: DOID:0112247 {source="MONDO:equivalentTo"}
xref: MEDGEN:1385307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617360 {source="MONDO:equivalentTo"}
xref: Orphanet:646278 {source="MONDO:equivalentTo"}
xref: UMLS:C4479246 {source="MEDGEN:1385307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0044303
name: congenital heart defects and ectodermal dysplasia
subset: otar {source="MONDO:OTAR"}
synonym: "CHDED" RELATED ABBREVIATION [OMIM:617364]
synonym: "congenital heart defects and ectodermal dysplasia" EXACT [OMIM:617364]
xref: MEDGEN:1387409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617364 {source="MONDO:equivalentTo"}
xref: UMLS:C4479250 {source="MEDGEN:1387409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0044304
name: hyperphenylalaninemia due to DNAJC12 deficiency
def: "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})." [OMIM:617384]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17950", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:508523"}
subset: orphanet_rare {source="Orphanet:508523"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HPANBH4" RELATED ABBREVIATION [OMIM:617384]
synonym: "hyperphenylalaninemia due to DNAJC12 deficiency" EXACT CLINGEN_LABEL []
synonym: "hyperphenylalaninemia, mild, non-BH4-deficient" RELATED [OMIM:617384]
xref: GARD:17950 {source="MONDO:GARD"}
xref: MEDGEN:1391882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617384 {source="MONDO:equivalentTo", source="Orphanet:508523"}
xref: Orphanet:508523 {source="MONDO:equivalentTo"}
xref: UMLS:C4479270 {source="MEDGEN:1391882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0002-1780-5230", source="https://orcid.org/0000-0002-4142-7153"} ! metabolic disease
is_a: MONDO:0037871 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! amino acid metabolism disease
relationship: excluded_subClassOf MONDO:0009861 {source="https://github.com/Orphanet/ORDO/issues/15", source="https://orcid.org/0000-0001-5208-3432"} ! phenylketonuria
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617384", source="Orphanet:508523"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28908 {source="Orphanet:508523"} ! DNAJC12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0044305
name: ectodermal dysplasia 13, hair/tooth type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECTD13" RELATED ABBREVIATION [OMIM:617392]
synonym: "ectodermal dysplasia 13, hair/tooth type" EXACT [OMIM:617392]
xref: DOID:0111650 {source="MONDO:equivalentTo"}
xref: MEDGEN:1387448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617392 {source="MONDO:equivalentTo"}
xref: UMLS:C4479322 {source="MEDGEN:1387448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="OMIM:617392"} ! ectodermal dysplasia syndrome

[Term]
id: MONDO:0044306
name: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
def: "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." [OMIM:617393]
subset: gard_rare {source="GARD:17930", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500545"}
subset: orphanet_rare {source="Orphanet:500545"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NECFM" RELATED ABBREVIATION [OMIM:617393]
synonym: "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" EXACT [OMIM:617393]
synonym: "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" RELATED [Orphanet:500545]
xref: GARD:17930 {source="MONDO:GARD"}
xref: MEDGEN:1377894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617393 {source="Orphanet:500545", source="MONDO:equivalentTo"}
xref: Orphanet:500545 {source="MONDO:equivalentTo", source="OMIM:617393"}
xref: UMLS:C4479333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1377894"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0015653 {source="Orphanet:500545"} ! monogenic epilepsy
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500545", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044308
name: bardet-biedl syndrome 21
def: "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)." [OMIM:617406]
subset: gard_rare {source="GARD:16226", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Bardet-Biedl syndrome 21" RELATED [OMIM:617406]
synonym: "BBS21" RELATED ABBREVIATION [OMIM:617406]
xref: DOID:0081010 {source="MONDO:equivalentTo"}
xref: GARD:16226 {source="MONDO:GARD"}
xref: MEDGEN:1374358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617406 {source="MONDO:equivalentTo"}
xref: Orphanet:110 {source="OMIM:617406"}
xref: UMLS:C4319932 {source="MEDGEN:1374358", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015229 {source="OMIM:617406"} ! Bardet-Biedl syndrome
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617406"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0044309
name: Diamond-Blackfan anemia 16
subset: gard_rare {source="GARD:16227", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA16" RELATED ABBREVIATION [OMIM:617408]
synonym: "Diamond-Blackfan anemia 16" EXACT [OMIM:617408]
xref: DOID:0111893 {source="MONDO:equivalentTo"}
xref: GARD:16227 {source="MONDO:GARD"}
xref: MEDGEN:1385861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617408 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:617408"}
xref: UMLS:C4479424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385861"}
is_a: MONDO:0015253 {source="OMIM:617408"} ! Diamond-Blackfan anemia

[Term]
id: MONDO:0044310
name: Diamond-Blackfan anemia 17
subset: gard_rare {source="GARD:16228", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DBA17" RELATED ABBREVIATION [OMIM:617409]
synonym: "Diamond-Blackfan anemia 17" EXACT [OMIM:617409]
xref: DOID:0111880 {source="MONDO:equivalentTo"}
xref: GARD:16228 {source="MONDO:GARD"}
xref: MEDGEN:1373199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617409 {source="MONDO:equivalentTo"}
xref: Orphanet:124 {source="OMIM:617409"}
xref: UMLS:C4479428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373199"}
is_a: MONDO:0015253 {source="OMIM:617409"} ! Diamond-Blackfan anemia

[Term]
id: MONDO:0044311
name: brachycephaly, trichomegaly, and developmental delay
def: "BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})." [OMIM:617412]
synonym: "brachycephaly, trichomegaly, and developmental delay" EXACT [OMIM:617412]
synonym: "BTDD" RELATED ABBREVIATION [OMIM:617412]
synonym: "Macinnes syndrome" RELATED [OMIM:617412]
xref: DOID:0070415 {source="MONDO:equivalentTo"}
xref: MEDGEN:1374289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617412 {source="MONDO:equivalentTo"}
xref: UMLS:C4479431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1374289"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0044312
name: immunoskeletal dysplasia with neurodevelopmental abnormalities
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities" RELATED [OMIM:617425]
synonym: "ISDNA" RELATED ABBREVIATION [OMIM:617425]
xref: MEDGEN:1381460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617425 {source="MONDO:equivalentTo"}
xref: UMLS:C4479452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381460"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0044313
name: intellectual disability, autosomal recessive 60
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 60" EXACT [OMIM:617432]
synonym: "mental retardation, autosomal recessive 60" RELATED DEPRECATED [OMIM:617432]
synonym: "MRT60" RELATED DEPRECATED [OMIM:617432]
xref: DOID:0081222 {source="MONDO:equivalentTo"}
xref: MEDGEN:1373351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617432 {source="MONDO:equivalentTo"}
xref: UMLS:C4479476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373351"}
is_a: MONDO:0019502 {source="OMIM:617432"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0044314
name: retinitis pigmentosa 78
subset: gard_rare {source="GARD:16229", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 78" EXACT [OMIM:617433]
synonym: "RP78" RELATED ABBREVIATION [OMIM:617433]
xref: GARD:16229 {source="MONDO:GARD"}
xref: MEDGEN:1378790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617433 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:617433"}
xref: UMLS:C4479481 {source="MEDGEN:1378790", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="OMIM:617433"} ! retinitis pigmentosa

[Term]
id: MONDO:0044315
name: craniosynostosis 7
def: "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)." [OMIM:617439]
synonym: "craniosynostosis 7" EXACT [OMIM:617439]
synonym: "craniosynostosis 7, digenic" RELATED [OMIM:617439]
synonym: "craniosynostosis 7, susceptibility to" EXACT [OMIM:617439, OMIM:genemap2]
synonym: "CRS7" RELATED ABBREVIATION [OMIM:617439]
synonym: "Crs7, digenic" RELATED [OMIM:617439]
xref: DOID:0060912 {source="MONDO:equivalentTo"}
xref: MEDGEN:1392447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617439 {source="MONDO:equivalentTo"}
xref: UMLS:C4479496 {source="MEDGEN:1392447", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:617439", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0015469 {source="OMIM:617439", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis
relationship: predisposes_towards MONDO:0015469 {source="OMIM:617439"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0044316
name: thrombocytopenia, anemia, and myelofibrosis
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "THAMY" RELATED ABBREVIATION [OMIM:617441]
synonym: "thrombocytopenia, anemia, and myelofibrosis" EXACT CLINGEN_LABEL [OMIM:617441]
xref: MEDGEN:1378448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617441 {source="MONDO:equivalentTo"}
xref: UMLS:C4479504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1378448"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0044317
name: premature ovarian failure 13
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF13" RELATED ABBREVIATION [OMIM:617442]
synonym: "premature ovarian failure 13" EXACT [OMIM:617442]
xref: DOID:0080870 {source="MONDO:equivalentTo"}
xref: MEDGEN:1393321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617442 {source="MONDO:equivalentTo"}
xref: UMLS:C4479510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1393321"}
is_a: MONDO:0019852 {source="OMIM:617442"} ! inherited primary ovarian failure

[Term]
id: MONDO:0044318
name: intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
def: "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." [OMIM:617450]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:653767"}
subset: orphanet_rare {source="Orphanet:653767"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDDGIP" RELATED ABBREVIATION [OMIM:617450]
synonym: "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" EXACT [OMIM:617450]
synonym: "Jansen de Vries syndrome" EXACT [OMIM:617450, OMIM:genemap2]
xref: MEDGEN:1385744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617450 {source="MONDO:equivalentTo"}
xref: Orphanet:653767 {source="MONDO:equivalentTo"}
xref: UMLS:C4479517 {source="MEDGEN:1385744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:653767"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044319
name: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
def: "IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})." [OMIM:617452]
subset: gard_rare {source="GARD:17942", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:505237"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:505237"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IDDFSDA" RELATED ABBREVIATION [OMIM:617452]
synonym: "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" EXACT [OMIM:617452]
xref: GARD:17942 {source="MONDO:GARD"}
xref: MEDGEN:1375601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617452 {source="MONDO:equivalentTo", source="Orphanet:505237"}
xref: Orphanet:505237 {source="MONDO:equivalentTo", source="OMIM:617452"}
xref: UMLS:C4479520 {source="MEDGEN:1375601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability
is_a: MONDO:0015159 {source="Orphanet:505237"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015653 {source="Orphanet:505237"} ! monogenic epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044320
name: retinitis pigmentosa 79
subset: gard_rare {source="GARD:16231", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 79" EXACT [OMIM:617460]
synonym: "RP79" RELATED ABBREVIATION [OMIM:617460]
xref: GARD:16231 {source="MONDO:GARD"}
xref: MEDGEN:1386200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617460 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:617460"}
xref: UMLS:C4479526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386200"}
is_a: MONDO:0019200 {source="OMIM:617460"} ! retinitis pigmentosa

[Term]
id: MONDO:0044321
name: structural heart defects and renal anomalies syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SHDRA" RELATED ABBREVIATION [OMIM:617478]
synonym: "structural heart defects and renal anomalies syndrome" EXACT [OMIM:617478]
xref: MEDGEN:1387412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617478 {source="MONDO:equivalentTo"}
xref: UMLS:C4479549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387412"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015161 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6024" xsd:anyURI

[Term]
id: MONDO:0044322
name: intellectual developmental disorder with neuropsychiatric features
def: "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})." [OMIM:617532]
subset: otar {source="MONDO:OTAR"}
synonym: "IDDNPF" RELATED ABBREVIATION [OMIM:617532]
synonym: "intellectual developmental disorder with neuropsychiatric features" EXACT [OMIM:617532]
xref: MEDGEN:1379216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617532 {source="MONDO:equivalentTo"}
xref: UMLS:C4479636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379216"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0001071 {source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/926" xsd:anyURI

[Term]
id: MONDO:0044323
name: Rahman syndrome
def: "Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})." [OMIM:617537]
subset: gard_rare {source="GARD:13422", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:642763"}
subset: orphanet_rare {source="Orphanet:642763"}
subset: rare
synonym: "autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation" EXACT [Orphanet:642763]
synonym: "Rahman syndrome" EXACT CLINGEN_LABEL [OMIM:617537]
synonym: "RMNS" RELATED ABBREVIATION [OMIM:617537]
xref: GARD:13422 {source="MONDO:GARD"}
xref: MEDGEN:1388282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617537 {source="MONDO:equivalentTo"}
xref: Orphanet:642763 {source="MONDO:equivalentTo"}
xref: UMLS:C4479637 {source="MEDGEN:1388282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044324
name: Al Kaissi syndrome
def: "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})." [OMIM:617694]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AL KAISSI syndrome" RELATED [OMIM:617694]
synonym: "ALKAS" RELATED ABBREVIATION [OMIM:617694]
synonym: "Growth retardation, spine malformation, dysmorphic facies, and developmental delay" RELATED [OMIM:617694]
xref: MEDGEN:1611968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617694 {source="MONDO:equivalentTo"}
xref: UMLS:C4540156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1611968"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044325
name: Fanconi anemia, complementation group W
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fanconi anemia, complementation group W" EXACT [OMIM:617784]
synonym: "FANCW" RELATED ABBREVIATION [OMIM:617784]
xref: MEDGEN:1621245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617784 {source="MONDO:equivalentTo"}
xref: UMLS:C4521564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621245"}
is_a: MONDO:0019391 {source="OMIM:617784"} ! Fanconi anemia

[Term]
id: MONDO:0044326
name: developmental delay and seizures with or without movement abnormalities
def: "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." [OMIM:617836]
subset: gard_rare {source="GARD:16261", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEDSM" RELATED ABBREVIATION [OMIM:617836]
synonym: "developmental delay and seizures with or without movement abnormalities" EXACT [OMIM:617836]
xref: DOID:0080473 {source="MONDO:equivalentTo"}
xref: GARD:16261 {source="MONDO:GARD"}
xref: MEDGEN:1641343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617836 {source="MONDO:equivalentTo"}
xref: Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617836"}
xref: UMLS:C4693376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641343"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0000508 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044327
name: polycystic liver disease 4 with or without kidney cysts
def: "An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure." [OMIM:617875, PMID:24706814]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCLD4" RELATED ABBREVIATION [OMIM:617875]
synonym: "polycystic liver disease 4 with or without kidney cysts" EXACT [OMIM:617875]
xref: MEDGEN:1644991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617875 {source="MONDO:equivalentTo"}
xref: UMLS:C4693479 {source="MEDGEN:1644991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000447 {source="OMIM:617875"} ! autosomal dominant polycystic liver disease
intersection_of: MONDO:0000447 ! autosomal dominant polycystic liver disease
intersection_of: disease_has_basis_in_disruption_of http://identifiers.org/hgnc/6697 ! LRP5
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:617875"} ! Autosomal dominant inheritance

[Term]
id: MONDO:0044328
name: short-rib thoracic dysplasia 20 with polydactyly
def: "Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330)." [OMIM:617925]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "short-rib thoracic dysplasia 20 with polydactyly" EXACT [OMIM:617925]
synonym: "SRTD20" RELATED ABBREVIATION [OMIM:617925]
xref: MEDGEN:1634931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617925 {source="MONDO:equivalentTo"}
xref: UMLS:C4693616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634931"}
is_a: MONDO:0018770 {source="OMIM:617925"} ! Jeune syndrome

[Term]
id: MONDO:0044329
name: osteogenesis imperfecta, type 18
def: "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})." [OMIM:617952]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI18" RELATED ABBREVIATION [OMIM:617952]
synonym: "osteogenesis imperfecta, type XVIII" RELATED [OMIM:617952]
xref: DOID:0111848 {source="MONDO:equivalentTo"}
xref: MEDGEN:1635201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617952 {source="MONDO:equivalentTo"}
xref: UMLS:C4693736 {source="MEDGEN:1635201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="OMIM:617952"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0044330
name: hyperekplexia 4
def: "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400)." [OMIM:618011]
subset: gard_rare {source="GARD:16284", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HKPX4" RELATED ABBREVIATION [OMIM:618011]
synonym: "hyperekplexia 4" EXACT [OMIM:618011]
xref: DOID:0080581 {source="MONDO:equivalentTo"}
xref: GARD:16284 {source="MONDO:GARD"}
xref: MEDGEN:1642659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618011 {source="MONDO:equivalentTo"}
xref: UMLS:C4693933 {source="MEDGEN:1642659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021022 {source="OMIM:618011"} ! hereditary hyperekplexia

[Term]
id: MONDO:0044331
name: obsolete genetic transient congenital hypothyroidism
def: "OBSOLETE. An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: ordo_disorder {source="Orphanet:226316"}
synonym: "hereditary transient congenital hypothyroidism" EXACT [MONDO:patterns/hereditary]
xref: GARD:20564 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:P72.2 {source="Orphanet:226316"}
xref: Orphanet:226316 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
is_obsolete: true
consider: MONDO:0018612

[Term]
id: MONDO:0044332
name: childhood-onset benign chorea with striatal involvement
subset: gard_rare {source="GARD:17906", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494541"}
subset: orphanet_rare {source="Orphanet:494541"}
subset: rare
xref: GARD:17906 {source="MONDO:GARD"}
xref: MEDGEN:1798886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:494541 {source="MONDO:equivalentTo"}
xref: UMLS:C5567463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798886"}
is_a: MONDO:0005395 ! movement disorder
is_a: MONDO:0015548 {source="Orphanet:494541"} ! Huntington disease-like syndrome
relationship: has_characteristic MONDO:0021136 ! rare

[Term]
id: MONDO:0044333
name: alcohol-induced Wernicke-Korsakoff's syndrome
def: "A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues." [NCIT:C34366]
comment: Editor note: we follow NCIT in making a subtype of KW for alcoholic form, but other sources treat these as equivalent. TODO - check this.
synonym: "alcohol-induced amnestic syndrome" EXACT [NCIT:C34366]
synonym: "alcohol-induced Wernicke-Korsakoff's syndrome" EXACT [NCIT:C34366]
synonym: "alcoholic Korsakoff's psychosis" EXACT [NCIT:C34366]
xref: MEDGEN:312391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34366 {source="MONDO:equivalentTo"}
xref: UMLS:C1704427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:312391"}
is_a: MONDO:0010198 {source="NCIT:C34366"} ! Wernicke-Korsakoff syndrome
is_a: MONDO:0021702 {source="https://orcid.org/0000-0002-6601-2165"} ! alcohol amnestic disorder

[Term]
id: MONDO:0044334
name: connective and soft tissue neoplasm
def: "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue." [NCIT:C3810]
comment: Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone
subset: otar {source="MONDO:OTAR"}
synonym: "connective and soft tissue neoplasm" EXACT [NCIT:C3810]
synonym: "connective and soft tissue tumor" EXACT [NCIT:C3810]
synonym: "connective and soft tissue tumour" EXACT OMO:0003005 []
synonym: "musculoskeletal and soft tissue neoplasm" EXACT [NCIT:C3810]
synonym: "musculoskeletal and soft tissue tumor" EXACT [NCIT:C3810]
synonym: "musculoskeletal and soft tissue tumour" EXACT OMO:0003005 []
synonym: "neoplasm of skeletal and soft tissue" EXACT [NCIT:C3810]
synonym: "neoplasm of soft tissue and bone" EXACT [NCIT:C3810]
synonym: "neoplasm of soft tissue and skeleton" EXACT [NCIT:C3810]
synonym: "skeletal and soft tissue neoplasm" EXACT [NCIT:C3810]
synonym: "skeletal and soft tissue tumor" EXACT [NCIT:C3810]
synonym: "skeletal and soft tissue tumour" EXACT OMO:0003005 []
synonym: "soft tissue and bone neoplasm" EXACT [NCIT:C3810]
synonym: "soft tissue and bone tumor" EXACT [NCIT:C3810]
synonym: "soft tissue and bone tumour" EXACT OMO:0003005 []
synonym: "tumor of skeletal and soft tissue" EXACT [NCIT:C3810]
synonym: "tumor of soft tissue and bone" EXACT [NCIT:C3810]
synonym: "tumor of soft tissue and skeleton" EXACT [NCIT:C3810]
synonym: "tumour of skeletal and soft tissue" EXACT OMO:0003005 []
synonym: "tumour of soft tissue and bone" EXACT OMO:0003005 []
synonym: "tumour of soft tissue and skeleton" EXACT OMO:0003005 []
xref: MEDGEN:60224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3810 {source="MONDO:equivalentTo"}
xref: UMLS:C0206765 {source="MEDGEN:60224", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005070 {source="NCIT:C3810/inferred"} ! neoplasm

[Term]
id: MONDO:0044335
name: benign soft tissue neoplasm
def: "A non-metastasizing neoplasm that arises from the soft tissue." [NCIT:C4242]
subset: otar {source="MONDO:OTAR"}
synonym: "benign neoplasm of soft tissue" EXACT [NCIT:C4242]
synonym: "benign neoplasm of the soft tissue" EXACT [NCIT:C4242]
synonym: "benign soft tissue neoplasm" EXACT [NCIT:C4242]
synonym: "benign soft tissue tumor" EXACT [NCIT:C4242]
synonym: "benign soft tissue tumour" EXACT OMO:0003005 []
synonym: "benign tumor of soft tissue" EXACT [NCIT:C4242]
synonym: "benign tumor of the soft tissue" EXACT [NCIT:C4242]
synonym: "benign tumour of soft tissue" EXACT OMO:0003005 []
synonym: "benign tumour of the soft tissue" EXACT OMO:0003005 []
synonym: "soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: ICDO:8800/0 {source="NCIT:C4242"}
xref: MEDGEN:83151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4242 {source="MONDO:equivalentTo"}
xref: SCTID:92069005 {source="MONDO:equivalentTo"}
xref: UMLS:C0334450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83151"}
is_a: MONDO:0000654 {source="MONDO:Redundant", source="NCIT:C4242"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C4242"} ! soft tissue neoplasm
intersection_of: MONDO:0006424 ! soft tissue neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0044336
name: colorectal signet ring cell carcinoma
def: "An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate." [NCIT:C43586]
synonym: "colorectal signet Ring cell carcinoma" EXACT [NCIT:C43586]
xref: MEDGEN:313040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43586 {source="MONDO:equivalentTo"}
xref: UMLS:C1707440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313040"}
is_a: MONDO:0005008 {source="NCIT:C43586"} ! colorectal adenocarcinoma
is_a: MONDO:0005092 {source="MONDO:Redundant", source="NCIT:C43586"} ! signet ring cell carcinoma
intersection_of: MONDO:0005092 ! signet ring cell carcinoma
intersection_of: disease_has_location UBERON:0000059 ! large intestine

[Term]
id: MONDO:0044337
name: stromal sarcoma
def: "A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma." [NCIT:C6926]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "stromal sarcoma" EXACT [NCIT:C6926]
synonym: "stromal sarcoma, malignant" EXACT [NCIT:C6926]
synonym: "stromal tumor, malignant" EXACT [NCIT:C6926]
xref: ICDO:8935/3 {source="NCIT:C6926"}
xref: MEDGEN:235091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6926 {source="MONDO:equivalentTo"}
xref: UMLS:C1370723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235091"}
is_a: MONDO:0018078 {source="NCIT:C6926"} ! soft tissue sarcoma

[Term]
id: MONDO:0044338
name: autoimmune primary ovarian failure
def: "An autoimmune form of primary ovarian failure." [MONDO:patterns/autoimmune]
synonym: "primary ovarian failure arising through autoimmunity" EXACT []
xref: ICD9:256.39
xref: ICD9:279.49
xref: MEDGEN:575071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237790001 {source="MONDO:equivalentTo"}
xref: UMLS:C0342508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575071"}
is_a: MONDO:0000569 {source="MONDO:Redundant"} ! autoimmune disorder of endocrine system
intersection_of: MONDO:0005387 ! primary ovarian failure
intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity

[Term]
id: MONDO:0044339
name: lumbar disk degenerative disorder
def: "Any degenerative disorder affecting one or more vertebral disks of the lumbar spine." [NCIT:C27154]
synonym: "degeneration of lumbar intervertebral disc" EXACT OMO:0003005 []
synonym: "degeneration of lumbar intervertebral disk" EXACT []
synonym: "degenerative disc disease" BROAD OMO:0003005 []
synonym: "degenerative disc disorder" BROAD OMO:0003005 []
synonym: "degenerative disk disease" BROAD [EFO:0004994]
synonym: "degenerative disk disorder" BROAD [EFO:0004994]
synonym: "IDD" BROAD ABBREVIATION [OMIM:603932]
synonym: "intervertebral disc degenerative disorder of lumbar region of vertebral column" EXACT OMO:0003005 []
synonym: "intervertebral DISC disease" BROAD [OMIM:603932]
synonym: "intervertebral disc disease" BROAD OMO:0003005 []
synonym: "intervertebral disc disease, susceptibility to" EXACT OMO:0003005 []
synonym: "intervertebral disk degenerative disorder of lumbar region of vertebral column" EXACT [MONDO:design_pattern]
synonym: "intervertebral disk disease" BROAD [EFO:0004994]
synonym: "intervertebral disk disease, susceptibility to" EXACT [OMIM:603932, OMIM:genemap2]
synonym: "lumbar Disc Degeneration" EXACT [NCIT:C27154]
synonym: "lumbar disc degeneration, susceptibility to" RELATED OMO:0003005 []
synonym: "lumbar Disc degenerative disease" EXACT [NCIT:C27154]
synonym: "lumbar Disc degenerative disorder" EXACT [NCIT:C27154]
synonym: "lumbar disc disease" RELATED OMO:0003005 []
synonym: "lumbar disc disease, susceptibility to" EXACT OMO:0003005 []
synonym: "lumbar disc herniation, susceptibility to" RELATED OMO:0003005 []
synonym: "lumbar disk degeneration, susceptibility to" RELATED [OMIM:603932]
synonym: "lumbar disk disease" RELATED [OMIM:603932]
synonym: "lumbar disk disease, susceptibility to" EXACT [OMIM:603932, OMIM:genemap2]
synonym: "lumbar disk herniation, susceptibility to" RELATED [OMIM:603932]
synonym: "lumbar region of vertebral column intervertebral disc degenerative disorder" EXACT OMO:0003005 []
synonym: "lumbar region of vertebral column intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:57852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535531 {source="EFO:0004994", source="MONDO:equivalentTo"}
xref: NCIT:C27154 {source="MONDO:equivalentTo"}
xref: SCTID:26538006 {source="MONDO:equivalentTo"}
xref: UMLS:C0158252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57852"}
is_a: MONDO:0011385 {source="MESH:C535531", source="MONDO:Redundant", source="NCIT:C27154"} ! intervertebral disk degenerative disorder
intersection_of: MONDO:0011385 ! intervertebral disk degenerative disorder
intersection_of: disease_has_location UBERON:0006074 ! lumbar region of vertebral column
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5633" xsd:anyURI

[Term]
id: MONDO:0044342
name: thoracic disk degenerative disorder
def: "Any degenerative disorder affecting one or more vertebral disks of the thoracic spine." [NCIT:C27155]
synonym: "degeneration of thoracic intervertebral disc" EXACT OMO:0003005 []
synonym: "degeneration of thoracic intervertebral disk" EXACT []
synonym: "intervertebral disc degenerative disorder of thoracic region of vertebral column" EXACT OMO:0003005 []
synonym: "intervertebral disk degenerative disorder of thoracic region of vertebral column" EXACT [MONDO:design_pattern]
synonym: "thoracic Disc Degeneration" EXACT [NCIT:C27155]
synonym: "thoracic Disc degenerative disease" EXACT [NCIT:C27155]
synonym: "thoracic Disc degenerative disorder" EXACT [NCIT:C27155]
synonym: "thoracic region of vertebral column intervertebral disc degenerative disorder" EXACT OMO:0003005 []
synonym: "thoracic region of vertebral column intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:120491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27155 {source="MONDO:equivalentTo"}
xref: SCTID:68675004 {source="MONDO:equivalentTo"}
xref: UMLS:C0263872 {source="MEDGEN:120491", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011385 {source="MONDO:Redundant", source="NCIT:C27155"} ! intervertebral disk degenerative disorder
intersection_of: MONDO:0011385 ! intervertebral disk degenerative disorder
intersection_of: disease_has_location UBERON:0006073 ! thoracic region of vertebral column

[Term]
id: MONDO:0044343
name: cervical disk degenerative disorder
def: "Any degenerative disorder affecting one or more vertebral disks of the cervical spine." [NCIT:C27156]
subset: otar {source="MONDO:OTAR"}
synonym: "cervical Disc Degeneration" EXACT [NCIT:C27156]
synonym: "cervical Disc degenerative disease" EXACT [NCIT:C27156]
synonym: "cervical Disc degenerative disorder" EXACT [NCIT:C27156]
synonym: "cervical region of vertebral column intervertebral disc degenerative disorder" EXACT OMO:0003005 []
synonym: "cervical region of vertebral column intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "degeneration of cervical intervertebral disc" EXACT OMO:0003005 []
synonym: "degeneration of cervical intervertebral disk" EXACT []
synonym: "intervertebral disc degenerative disorder of cervical region of vertebral column" EXACT OMO:0003005 []
synonym: "intervertebral disk degenerative disorder of cervical region of vertebral column" EXACT [MONDO:design_pattern]
xref: EFO:0009537 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:96081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27156 {source="MONDO:equivalentTo"}
xref: SCTID:69195002 {source="MONDO:equivalentTo"}
xref: UMLS:C0410606 {source="MEDGEN:96081", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011385 {source="MONDO:Redundant", source="NCIT:C27156"} ! intervertebral disk degenerative disorder
intersection_of: MONDO:0011385 ! intervertebral disk degenerative disorder
intersection_of: disease_has_location UBERON:0006072 ! cervical region of vertebral column

[Term]
id: MONDO:0044344
name: Schistosoma japonicum infectious disease
def: "An infection that is caused by Schistosoma japonicum." [NCIT:C35001]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Asiatic schistosomiasis" RELATED []
synonym: "Katamaya fever" RELATED []
synonym: "Katamaya syndrome" RELATED []
synonym: "Katayama disease" RELATED []
synonym: "Schistosoma japonicum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Schistosoma japonicum disease or disorder" EXACT []
synonym: "Schistosoma japonicum infection" EXACT [NCIT:C35001]
synonym: "schistosomiasis japonicum" RELATED [MESH:D012554]
xref: MESH:D012554 {source="MONDO:equivalentTo"}
xref: NCIT:C35001 {source="MONDO:equivalentTo"}
xref: SCTID:268058007 {source="MONDO:equivalentTo"}
is_a: MONDO:0015254 {source="MESH:D012554", source="NCIT:C35001"} ! schistosomiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6182 ! Schistosoma japonicum

[Term]
id: MONDO:0044345
name: Schistosoma mansoni infectious disease
def: "An infection that is caused by Schistosoma mansoni." [NCIT:C35002]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Schistosoma mansoni caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Schistosoma mansoni disease or disorder" EXACT []
synonym: "Schistosoma mansoni infection" EXACT [NCIT:C35002]
xref: MESH:D012555 {source="MONDO:equivalentTo"}
xref: NCIT:C35002 {source="MONDO:equivalentTo"}
xref: SCTID:750009 {source="MONDO:equivalentTo"}
is_a: MONDO:0015254 {source="MESH:D012555", source="NCIT:C35002"} ! schistosomiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6183 ! Schistosoma mansoni

[Term]
id: MONDO:0044346
name: echinococcus granulosus infectious disease
def: "An disease or disorder caused by infection with Echinococcus granulosus." [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echinococcus granulosus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Echinococcus granulosus disease or disorder" EXACT []
synonym: "echinococcus granulosus infection" EXACT []
synonym: "Echinococcus granulosus infectious disease" EXACT []
synonym: "echinococcus granulosus infectious disease" EXACT []
synonym: "unilocular hydatid disease" RELATED []
xref: ICD9:122.3
xref: ICD9:122.4
xref: MEDGEN:508866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:75006000 {source="MONDO:equivalentTo"}
xref: UMLS:C0152068 {source="MEDGEN:508866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6210 ! Echinococcus granulosus

[Term]
id: MONDO:0044347
name: erythrocyte disorder
def: "A disease or disorder that involves the erythrocyte." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease of erythrocyte" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of erythrocyte" EXACT []
synonym: "disorder of erythrocyte" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "erythrocyte disease" EXACT [MONDO:design_pattern]
synonym: "erythrocyte disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "red blood cell disease" EXACT []
synonym: "red blood cell disorder" EXACT []
xref: ICD9:289.9
xref: MEDGEN:526127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:38292009 {source="MONDO:equivalentTo"}
xref: UMLS:C0221016 {source="MEDGEN:526127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 ! hematologic disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location CL:0000232 ! erythrocyte

[Term]
id: MONDO:0044348
name: hemoglobinopathy
subset: gard_rare {source="GARD:12455", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "globin abnormality" RELATED []
synonym: "haemoglobin disease" RELATED OMO:0003005 []
synonym: "haemoglobin disorder" RELATED OMO:0003005 []
synonym: "hemoglobin disease" RELATED []
synonym: "hemoglobin disorder" RELATED []
synonym: "hemoglobinopathy" EXACT []
xref: GARD:12455 {source="MONDO:GARD"}
xref: ICD9:282.7
xref: MEDGEN:42400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:80141007 {source="MONDO:equivalentTo"}
xref: UMLS:C0019045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42400"}
is_a: MONDO:0044347 ! erythrocyte disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of CHEBI:35143 ! hemoglobin
relationship: disease_has_feature MONDO:0002280 ! anemia

[Term]
id: MONDO:0044349
name: acquired hemoglobinopathy
def: "An instance of hemoglobinopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acquired hemoglobinopathy" EXACT [MONDO:patterns/acquired]
xref: MEDGEN:688237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:127039000 {source="MONDO:equivalentTo"}
xref: UMLS:C1263995 {source="MEDGEN:688237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044348 {source="MONDO:Redundant"} ! hemoglobinopathy
intersection_of: MONDO:0044348 ! hemoglobinopathy
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0044350
name: hyperparathyroidism, primary, caused by water clear cell hyperplasia
subset: gard_rare {source="GARD:18254", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hyperparathyroidism, primary, caused by water clear cell hyperplasia" EXACT [OMIM:600166]
xref: GARD:18254 {source="MONDO:GARD"}
xref: MEDGEN:325036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563982 {source="MONDO:equivalentTo"}
xref: OMIM:600166 {source="MONDO:equivalentTo"}
xref: Orphanet:99878 {source="OMIM:600166"}
xref: UMLS:C1838501 {source="MEDGEN:325036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010837 {source="MESH:C563982", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! primary hyperparathyroidism
is_a: MONDO:0016365 {source="https://orcid.org/0000-0002-5002-8648"} ! familial primary hyperparathyroidism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0044351
name: Schistosoma intercalatum infectious disease
def: "An disease or disorder caused by infection with Schistosoma intercalatum." [MONDO:patterns/specific_infectious_disease_by_agent]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "infection by Schistosoma intercalatum" EXACT [NCIT:C35364]
synonym: "infection caused by Schistosoma intercalatum" RELATED []
synonym: "Schistosoma intercalatum caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Schistosoma intercalatum disease or disorder" EXACT []
xref: ICD9:120.8
xref: MEDGEN:124448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35364 {source="MONDO:equivalentTo"}
xref: SCTID:52179003 {source="MONDO:equivalentTo"}
xref: UMLS:C0276932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124448"}
is_a: MONDO:0015254 {source="NCIT:C35364"} ! schistosomiasis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:6187 ! Schistosoma intercalatum

[Term]
id: MONDO:0044354
name: obsolete Rosai-Dorfman disease
xref: NANDO:2200039 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4236" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006412

[Term]
id: MONDO:0044355
name: isolated sternocostoclavicular hyperostosis
def: "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases." [Orphanet:178311]
subset: gard_rare {source="GARD:20144", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178311"}
subset: orphanet_rare {source="Orphanet:178311"}
subset: rare
synonym: "isolated SCCH" EXACT [Orphanet:178311]
xref: GARD:20144 {source="MONDO:GARD"}
xref: ICD10CM:M85.8 {source="Orphanet:178311"}
xref: MEDGEN:1640582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:178311 {source="MONDO:equivalentTo"}
xref: SCTID:766711009 {source="MONDO:equivalentTo"}
xref: UMLS:C4707796 {source="MEDGEN:1640582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005554 {source="Orphanet:178311"} ! rheumatic disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare

[Term]
id: MONDO:0044406
name: arthrogryposis-ectodermal dysplasia-other anomalies syndrome
subset: gard_rare {source="GARD:5029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3200"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:3200"}
subset: rare
synonym: "Stoll-Alembik-Finck syndrome" EXACT [Orphanet:3200]
xref: GARD:5029 {source="MONDO:GARD"}
xref: MEDGEN:1674099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:3200 {source="MONDO:equivalentTo"}
xref: UMLS:C5191837 {source="MEDGEN:1674099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019287 {source="Orphanet:3200"} ! ectodermal dysplasia syndrome
is_a: MONDO:0019942 {source="Orphanet:3200"} ! distal arthrogryposis

[Term]
id: MONDO:0044617
name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
subset: gard_rare {source="GARD:21990", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:482606"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:482606"}
subset: rare
xref: GARD:21990 {source="MONDO:GARD"}
xref: MEDGEN:1798943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:482606 {source="MONDO:equivalentTo"}
xref: UMLS:C5567520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798943"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019275-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
relationship: excluded_subClassOf MONDO:0018234 {source="MONDO:0018235-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! dysostosis
relationship: excluded_subClassOf MONDO:0018454 {source="MONDO:0018455-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dysostosis of genetic origin
relationship: excluded_subClassOf MONDO:0019268 {source="MONDO:0019274-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epidermal disease
relationship: excluded_subClassOf MONDO:0019690 {source="Orphanet:482606", source="https://orcid.org/0000-0001-5208-3432"} ! filamin-related bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0044618
name: obsolete CLCN4-related X-linked intellectual disability syndrome
xref: GARD:17880 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6328" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010250

[Term]
id: MONDO:0044619
name: propylthiouracil embryofetopathy
def: "Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects)." [Orphanet:485358]
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:485358"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:485358"}
subset: rare
synonym: "propylthiouracil embryopathy" EXACT [Orphanet:485358]
synonym: "PTU embryofetopathy" EXACT [Orphanet:485358]
synonym: "PTU embryopathy" EXACT [Orphanet:485358]
xref: MEDGEN:1798942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:485358 {source="MONDO:equivalentTo"}
xref: UMLS:C5567519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798942"}
is_a: MONDO:0016677 {source="Orphanet:485358"} ! toxic or drug-related embryofetopathy

[Term]
id: MONDO:0044621
name: 16p12.1p12.3 triplication syndrome
def: "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers." [Orphanet:485405]
subset: gard_rare {source="GARD:21993", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:485405"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:485405"}
subset: rare
synonym: "tetrasomy 16p12.1-p12.3" EXACT [Orphanet:485405]
synonym: "tetrasomy 16p12.1p12.3" EXACT [Orphanet:485405]
synonym: "trip(16)(p12.1p12.3)" EXACT [Orphanet:485405]
xref: GARD:21993 {source="MONDO:GARD"}
xref: MEDGEN:1814451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:485405 {source="MONDO:equivalentTo"}
xref: UMLS:C5680097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814451"}
is_a: MONDO:0015159 {source="Orphanet:485405"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016949 {source="Orphanet:485405"} ! partial duplication of the short arm of chromosome 16
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr16p12.1-p12.3 ! 16p12.1-p12.3 (Human)
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:485405", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare

[Term]
id: MONDO:0044622
name: EMILIN-1-related connective tissue disease
subset: gard_rare {source="GARD:21994", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:485418"}
subset: orphanet_rare {source="Orphanet:485418"}
subset: rare
xref: GARD:21994 {source="MONDO:GARD"}
xref: MEDGEN:1814474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:485418 {source="MONDO:equivalentTo"}
xref: UMLS:C5681244 {source="MEDGEN:1814474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder
is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral neuropathy

[Term]
id: MONDO:0044624
name: pediatric collagenous gastritis
subset: gard_rare {source="GARD:21998", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:487809"}
subset: orphanet_rare {source="Orphanet:487809"}
subset: rare
synonym: "childhood-onset collagenous gastritis" EXACT [Orphanet:487809]
xref: GARD:21998 {source="MONDO:GARD"}
xref: MEDGEN:1805938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:487809 {source="MONDO:equivalentTo"}
xref: UMLS:C5680109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805938"}
is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder
is_a: MONDO:0004966 {source="https://orcid.org/0000-0002-3458-4839"} ! gastritis
relationship: has_characteristic HP:0011463 ! Childhood onset
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI

[Term]
id: MONDO:0044625
name: autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
subset: gard_rare {source="GARD:21999", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:487814"}
subset: orphanet_rare {source="Orphanet:487814"}
subset: rare
synonym: "CMT2 due to DGAT2 mutation" EXACT [Orphanet:487814]
xref: GARD:21999 {source="MONDO:GARD"}
xref: MEDGEN:1798938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:487814 {source="MONDO:equivalentTo"}
xref: UMLS:C5567515 {source="MEDGEN:1798938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018993 {source="Orphanet:487814"} ! Charcot-Marie-Tooth disease type 2
intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16940 ! DGAT2

[Term]
id: MONDO:0044626
name: female infertility due to oocyte meiotic arrest
subset: gard_rare {source="GARD:17887", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488191"}
subset: orphanet_rare {source="Orphanet:488191"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:17887 {source="MONDO:GARD"}
xref: MEDGEN:1798912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:488191 {source="MONDO:equivalentTo"}
xref: UMLS:C5567489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798912"}
is_a: MONDO:0021124 {source="MONDO:Redundant", source="Orphanet:488191"} ! female infertility
intersection_of: MONDO:0021124 ! female infertility
intersection_of: disease_has_basis_in_disruption_of GO:0051321 ! meiotic cell cycle

[Term]
id: MONDO:0044627
name: acute macular neuroretinopathy
subset: gard_rare {source="GARD:22000", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488239"}
subset: orphanet_rare {source="Orphanet:488239"}
subset: rare
synonym: "AMNR" EXACT ABBREVIATION [Orphanet:488239]
xref: GARD:22000 {source="MONDO:GARD"}
xref: MEDGEN:1678428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:488239 {source="MONDO:equivalentTo"}
xref: UMLS:C5200735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678428"}
is_a: MONDO:0005283 {source="Orphanet:488239"} ! retinal disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0044628
name: six2-related frontonasal dysplasia
subset: gard_rare {source="GARD:22001", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488437"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488437"}
subset: rare
synonym: "SIX2-related FND" EXACT [Orphanet:488437]
xref: GARD:22001 {source="MONDO:GARD"}
xref: MEDGEN:1798907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:488437 {source="MONDO:equivalentTo"}
xref: UMLS:C5567484 {source="MEDGEN:1798907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016643 {source="Orphanet:488437"} ! frontonasal dysplasia

[Term]
id: MONDO:0044629
name: congenital amyoplasia
subset: gard_rare {source="GARD:22002", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:488586"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:488586"}
subset: rare
synonym: "amyoplasia congenita" EXACT [Orphanet:488586]
xref: GARD:22002 {source="MONDO:GARD"}
xref: MEDGEN:678346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:488586 {source="MONDO:equivalentTo"}
xref: UMLS:C0812412 {source="MEDGEN:678346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015225 {source="Orphanet:488586"} ! arthrogryposis syndrome
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0044630
name: obsolete rere-related neurodevelopmental syndrome
is_obsolete: true
replaced_by: MONDO:0014857

[Term]
id: MONDO:0044631
name: early-onset familial noncirrhotic portal hypertension
xref: Orphanet:494348 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0005154 {source="Orphanet:494348"} ! liver disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015113", source="MONDO:0015507"} ! rare

[Term]
id: MONDO:0044632
name: extracranial carotid artery aneurysm
subset: gard_rare {source="GARD:22003", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494424"}
subset: ordo_morphological_anomaly
subset: orphanet_rare {source="Orphanet:494424"}
subset: rare
synonym: "ECAA" EXACT ABBREVIATION [Orphanet:494424]
synonym: "Ecca" EXACT [Orphanet:494424]
xref: GARD:22003 {source="MONDO:GARD"}
xref: MEDGEN:1393749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:494424 {source="MONDO:equivalentTo"}
xref: UMLS:C4476554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1393749"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005269 {source="https://orcid.org/0000-0002-3458-4839"} ! carotid artery disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0044633
name: idiopathic pleuroparenchymal fibroelastosis
subset: gard_rare {source="GARD:22004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494428"}
subset: orphanet_rare {source="Orphanet:494428"}
subset: rare
synonym: "idiopathic pleuropulmonary fibroelastosis" EXACT [Orphanet:494428]
synonym: "IPPFE" EXACT ABBREVIATION [Orphanet:494428]
xref: GARD:22004 {source="MONDO:GARD"}
xref: MEDGEN:1798890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:494428 {source="MONDO:equivalentTo"}
xref: UMLS:C5567467 {source="MEDGEN:1798890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002429 {source="Orphanet:494428"} ! idiopathic interstitial pneumonia

[Term]
id: MONDO:0044634
name: retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
subset: gard_rare {source="GARD:17903", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494439"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:494439"}
subset: rare
synonym: "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" EXACT [Orphanet:494439]
synonym: "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" EXACT [OMIM:617763, OMIM:genemap2]
xref: DOID:0081175 {source="MONDO:equivalentTo"}
xref: GARD:17903 {source="MONDO:GARD"}
xref: MEDGEN:1615526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617763 {source="MONDO:equivalentTo", source="Orphanet:494439"}
xref: Orphanet:494439 {source="MONDO:equivalentTo"}
xref: UMLS:C4540367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615526"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015160 {source="Orphanet:494439"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0044635
name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17904", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494444"}
subset: orphanet_rare {source="Orphanet:494444"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome" EXACT CLINGEN_LABEL [Orphanet:494444]
xref: GARD:17904 {source="MONDO:GARD"}
xref: MEDGEN:1798888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:494444 {source="MONDO:equivalentTo"}
xref: UMLS:C5567465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798888"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018795 {source="Orphanet:494444"} ! syndromic constitutional thrombocytopenia

[Term]
id: MONDO:0044636
name: obsolete rare hyperkinetic movement disorder
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:494457"}
xref: GARD:22008 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:494457 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044637
name: infantile-onset generalized dyskinesia with orofacial involvement
subset: gard_rare {source="GARD:17905", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494526"}
subset: orphanet_rare {source="Orphanet:494526"}
subset: rare
synonym: "dyskinesia, limb and orofacial, infantile-onset" EXACT [OMIM:616921]
synonym: "infantile-onset orofacial-trunk-limbs dyskinesia" EXACT [Orphanet:494526]
synonym: "IOLOD" EXACT ABBREVIATION [OMIM:616921]
xref: GARD:17905 {source="MONDO:GARD"}
xref: MEDGEN:1798887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616921 {source="MONDO:equivalentTo", source="Orphanet:494526"}
xref: Orphanet:494526 {source="MONDO:equivalentTo"}
xref: UMLS:C5567464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798887"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015990 {source="Orphanet:494526"} ! focal, segmental or multifocal dystonia
relationship: has_characteristic HP:0003593 ! Infantile onset
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8772 {source="MONDO:mim2gene_medgen"} ! PDE10A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5761" xsd:anyURI

[Term]
id: MONDO:0044638
name: hypopharynx squamous cell carcinoma
def: "A squamous cell carcinoma that involves the hypopharynx." [MONDO:patterns/location]
subset: gard_rare {source="GARD:17907", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:494547"}
subset: orphanet_rare {source="Orphanet:494547"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of hypopharynx" EXACT [NCIT:C4043]
synonym: "epidermoid carcinoma of the hypopharynx" EXACT [NCIT:C4043]
synonym: "hypopharyngeal epidermoid carcinoma" EXACT [NCIT:C4043]
synonym: "hypopharyngeal squamous cell carcinoma" EXACT [NCIT:C4043]
synonym: "hypopharyngeal throat squamous cell cancer" EXACT [NCIT:C4043]
synonym: "squamous cell carcinoma of hypopharynx" EXACT [NCIT:C4043]
synonym: "squamous cell carcinoma of the hypopharynx" RELATED [Orphanet:494547]
xref: EFO:1001960 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17907 {source="MONDO:GARD"}
xref: icd11.foundation:680629191 {source="MONDO:equivalentTo", source="Orphanet:494547", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:79102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4043 {source="MONDO:equivalentTo"}
xref: ONCOTREE:HPHSC {source="MONDO:equivalentTo"}
xref: Orphanet:494547 {source="MONDO:equivalentTo"}
xref: UMLS:C0280321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79102"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001051 ! hypopharynx

[Term]
id: MONDO:0044640
name: Charcot-Marie-Tooth disease type 2T
subset: gard_rare {source="GARD:17909", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:495274"}
subset: orphanet_rare {source="Orphanet:495274"}
subset: rare
synonym: "AR-CMT2T" EXACT [Orphanet:495274]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" EXACT [Orphanet:495274]
synonym: "CMT2T" EXACT ABBREVIATION [Orphanet:495274]
xref: GARD:17909 {source="MONDO:GARD"}
xref: Orphanet:495274 {source="MONDO:equivalentTo"}
is_a: MONDO:0018993 {source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease type 2

[Term]
id: MONDO:0044641
name: 9q33.3q34.11 microdeletion syndrome
subset: gard_rare {source="GARD:22009", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:495818"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:495818"}
subset: rare
synonym: "9q33.3-q34.11 microdeletion syndrome" EXACT [Orphanet:495818]
synonym: "Del(9)(q33.3q34.11)" EXACT [Orphanet:495818]
synonym: "deletion 9q33.3q34.11" EXACT [Orphanet:495818]
synonym: "monosomy 9q33.3-q34.11" EXACT [Orphanet:495818]
synonym: "monosomy 9q33.3q34.11" EXACT [Orphanet:495818]
xref: GARD:22009 {source="MONDO:GARD"}
xref: MEDGEN:1811810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:495818 {source="MONDO:equivalentTo"}
xref: UMLS:C5680085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811810"}
is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:495818"} ! syndromic intellectual disability
is_a: MONDO:0005328 ! eye disorder
is_a: MONDO:0015159 {source="Orphanet:495818"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0016908 {source="Orphanet:495818"} ! partial monosomy of the long arm of chromosome 9
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr9q33.3-q34.11 ! 9q33.3-q34.11 (Human)
relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0044642
name: c11orf73-related autosomal recessive hypomyelinating leukodystrophy
subset: gard_rare {source="GARD:17910", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:495844"}
subset: orphanet_rare {source="Orphanet:495844"}
subset: rare
synonym: "C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy" EXACT [Orphanet:495844]
synonym: "hypomyelinating leukodystrophy due to hikeshi deficiency" EXACT [Orphanet:495844]
xref: GARD:17910 {source="MONDO:GARD"}
xref: MEDGEN:1798879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:495844 {source="MONDO:equivalentTo"}
xref: UMLS:C5567456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798879"}
is_a: MONDO:0019046 {source="https://orcid.org/0000-0001-5208-3432"} ! leukodystrophy

[Term]
id: MONDO:0044643
name: congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
subset: gard_rare {source="GARD:22010", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:495875"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:495875"}
subset: rare
synonym: "congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" EXACT [Orphanet:495875]
xref: GARD:22010 {source="MONDO:GARD"}
xref: MEDGEN:1798878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:495875 {source="MONDO:equivalentTo"}
xref: UMLS:C5567455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798878"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:495875"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:495875", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0044644
name: congenital agenesis of the scrotum
subset: gard_rare {source="GARD:22011", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:495879"}
subset: ordo_morphological_anomaly
subset: orphanet_rare {source="Orphanet:495879"}
subset: rare
synonym: "congenital absence of the scrotum" EXACT [Orphanet:495879]
synonym: "congenital scrotal absence" EXACT [Orphanet:495879]
synonym: "congenital scrotal agenesis" EXACT [Orphanet:495879]
xref: GARD:22011 {source="MONDO:GARD"}
xref: MEDGEN:1669923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:495879 {source="MONDO:equivalentTo"}
xref: UMLS:C1387020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1669923"}
is_a: MONDO:0003150 {source="https://orcid.org/0000-0002-5002-8648"} ! male reproductive system disorder
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0044645
name: familial monosomy 7 syndrome
def: "A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor." [Orphanet:495930]
subset: gard_rare {source="GARD:20827", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:495930"}
subset: orphanet_rare {source="Orphanet:495930"}
subset: rare
synonym: "monosomy 7 myelodysplasia and leukaemia syndrome" EXACT OMO:0003005 []
synonym: "monosomy 7 myelodysplasia and leukemia syndrome" EXACT [MONDO:0031178]
xref: GARD:20827 {source="MONDO:GARD"}
xref: MEDGEN:1826116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:252270 {source="MONDO:equivalentTo"}
xref: Orphanet:495930 {source="MONDO:equivalentTo"}
xref: UMLS:C5681220 {source="MEDGEN:1826116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:252270"} ! hereditary disease
is_a: MONDO:0018881 {source="Orphanet:495930"} ! myelodysplastic syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:252270"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5923" xsd:anyURI

[Term]
id: MONDO:0044646
name: early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
subset: gard_rare {source="GARD:17911", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:496641"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:496641"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" EXACT [MONDO:0014964, OMIM:617193]
synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" EXACT []
synonym: "PEBAT" EXACT ABBREVIATION [OMIM:617193]
xref: DOID:0070423 {source="MONDO:equivalentTo"}
xref: GARD:17911 {source="MONDO:GARD"}
xref: MEDGEN:934638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617193 {source="Orphanet:496641", source="MONDO:equivalentTo"}
xref: Orphanet:496641 {source="MONDO:equivalentTo"}
xref: UMLS:C4310671 {source="MONDO:equivalentTo", source="MEDGEN:934638", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:496641"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0024237 {source="Orphanet:496641"} ! inherited neurodegenerative disorder
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:496641", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0005559 {source="Orphanet:496641", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease
relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:496641", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015918", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11581 {source="MONDO:mim2gene_medgen"} ! TBCD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0044647
name: kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
subset: gard_rare {source="GARD:17912", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:496686"}
subset: orphanet_rare {source="Orphanet:496686"}
subset: rare
xref: GARD:17912 {source="MONDO:GARD"}
xref: MEDGEN:1798876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:496686 {source="MONDO:equivalentTo"}
xref: UMLS:C5567453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798876"}
is_a: MONDO:0018943 {source="Orphanet:496686"} ! myofibrillar myopathy

[Term]
id: MONDO:0044648
name: kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
subset: gard_rare {source="GARD:22012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:496689"}
subset: orphanet_rare {source="Orphanet:496689"}
subset: rare
synonym: "kyphoscoliosis-lateral tongue atrophy-HSP syndrome" EXACT [Orphanet:496689]
xref: GARD:22012 {source="MONDO:GARD"}
xref: MEDGEN:1798875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:496689 {source="MONDO:equivalentTo"}
xref: UMLS:C5567452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798875"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0044649
name: omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
subset: gard_rare {source="GARD:10354", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:496693"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:496693"}
subset: rare
synonym: "Gershoni-Baruch syndrome" EXACT [Orphanet:496693]
xref: GARD:10354 {source="MONDO:GARD"}
xref: Orphanet:496693 {source="MONDO:equivalentTo"}
is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0015160 {source="Orphanet:496693"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0018234 ! dysostosis
is_a: MONDO:0019054 ! congenital limb malformation

[Term]
id: MONDO:0044651
name: early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
subset: gard_rare {source="GARD:17914", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:496756"}
subset: orphanet_rare {source="Orphanet:496756"}
subset: rare
xref: GARD:17914 {source="MONDO:GARD"}
xref: MEDGEN:1798874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:496756 {source="MONDO:equivalentTo"}
xref: UMLS:C5567451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798874"}
is_a: MONDO:0015363 {source="Orphanet:496756"} ! neuronopathy, distal hereditary motor, autosomal recessive
is_a: MONDO:0018307 {source="Orphanet:496756"} ! neurodegeneration with brain iron accumulation
is_a: MONDO:0020046 {source="Orphanet:496756"} ! autosomal recessive degenerative and progressive cerebellar ataxia
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:496756", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044652
name: obsolete optic atrophy-peripheral neuropathy-developmental delay syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4927" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0014958

[Term]
id: MONDO:0044655
name: obsolete c12orf65-related combined oxidative phosphorylation defect
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:497623"}
synonym: "C12ORF65-related COXPD" EXACT [Orphanet:497623]
xref: GARD:22015 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:497623 {source="MONDO:obsoleteEquivalent"}
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:497623", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044656
name: epidermolytic nevus
subset: gard_rare {source="GARD:22016", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:497737"}
subset: orphanet_rare {source="Orphanet:497737"}
subset: rare
synonym: "Epidermal nevus with epidermolytic hyperkeratosis" EXACT [Orphanet:497737]
synonym: "epidermolytic epidermal nevus" EXACT [Orphanet:497737]
synonym: "epidermolytic verrucous epidermal nevus" EXACT [Orphanet:497737]
xref: GARD:22016 {source="MONDO:GARD"}
xref: MEDGEN:724389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:497737 {source="MONDO:equivalentTo"}
xref: SCTID:400142003 {source="MONDO:equivalentTo"}
xref: UMLS:C1302848 {source="MEDGEN:724389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017266 {source="Orphanet:497737"} ! keratinopathic ichthyosis

[Term]
id: MONDO:0044657
name: MME-related autosomal dominant Charcot Marie Tooth disease type 2
subset: gard_rare {source="GARD:17916", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:497757"}
subset: orphanet_rare {source="Orphanet:497757"}
subset: rare
synonym: "MME-related autosomal dominant CMT2" EXACT [Orphanet:497757]
synonym: "MME-related autosomal dominant hereditary motor and sensory neuropathy type 2" EXACT [Orphanet:497757]
xref: GARD:17916 {source="MONDO:GARD"}
xref: MEDGEN:1798873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:497757 {source="MONDO:equivalentTo"}
xref: UMLS:C5567450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798873"}
is_a: MONDO:0018993 {source="Orphanet:497757"} ! Charcot-Marie-Tooth disease type 2

[Term]
id: MONDO:0044660
name: menstrual cycle-dependent periodic fever
subset: gard_rare {source="GARD:22017", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498251"}
subset: orphanet_rare {source="Orphanet:498251"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "luteal-phase-dependent febrile episode" EXACT [Orphanet:498251]
synonym: "luteal-phase-dependent periodic fever" EXACT [Orphanet:498251]
synonym: "menstrual cycle-dependent febrile episode" EXACT [Orphanet:498251]
synonym: "periodic fever, menstrual cycle dependent" EXACT [OMIM:614674, OMIM:genemap2]
synonym: "periodic fever, menstrual cycle-dependent" EXACT [MONDO:0013850, OMIM:614674]
xref: GARD:22017 {source="MONDO:GARD"}
xref: MEDGEN:766332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614674 {source="MONDO:equivalentTo"}
xref: Orphanet:498251 {source="MONDO:equivalentTo"}
xref: UMLS:C3553418 {source="MEDGEN:766332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="https://orcid.org/0000-0002-5002-8648"} ! female reproductive system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5286 {source="MONDO:mim2gene_medgen"} ! HTR1A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI

[Term]
id: MONDO:0044663
name: aquagenic palmoplantar keratoderma
def: "Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis." [GARD:0012991]
subset: gard_rare {source="GARD:12991", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498359"}
subset: orphanet_rare {source="Orphanet:498359"}
subset: rare
synonym: "aquagenic keratoderma" EXACT [Orphanet:498359]
synonym: "aquagenic palmoplantar keratoderma" EXACT [GARD:0012991]
synonym: "aquagenic syringeal acrokeratoderma" EXACT [Orphanet:498359]
synonym: "aquagenic wrinkling of the hands" RELATED [GARD:0012991]
synonym: "aquagenic wrinkling of the palms" EXACT [GARD:0012991, Orphanet:498359]
synonym: "Transient reactive papulotranslucent acrokeratoderma" RELATED [GARD:0012991]
synonym: "transient reactive papulotranslucent acrokeratoderma" EXACT [Orphanet:498359]
xref: GARD:12991 {source="MONDO:GARD"}
xref: MEDGEN:1789947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:498359 {source="MONDO:equivalentTo"}
xref: UMLS:C4087301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1789947"}
is_a: MONDO:0006590 ! palmoplantar keratosis
is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease
intersection_of: MONDO:0006590 ! palmoplantar keratosis
intersection_of: realized_in_response_to ECTO:9000156 ! exposure to water

[Term]
id: MONDO:0044675
name: LRP5-related primary osteoporosis
subset: gard_rare {source="GARD:22031", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498481"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:498481"}
subset: rare
xref: GARD:22031 {source="MONDO:GARD"}
xref: MEDGEN:1798664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:498481 {source="MONDO:equivalentTo"}
xref: UMLS:C5567241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798664"}
is_a: MONDO:0018230 {source="Orphanet:498481"} ! skeletal dysplasia
relationship: disease_has_feature HP:0004349 {source="Orphanet:498481"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:498481", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="https://orcid.org/0000-0002-6601-2165"} ! LRP5

[Term]
id: MONDO:0044680
name: obsolete short rib-polydactyly syndrome type 5
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2806" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0013569

[Term]
id: MONDO:0044682
name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
subset: gard_rare {source="GARD:22035", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:498693"}
subset: orphanet_rare {source="Orphanet:498693"}
subset: rare
synonym: "MYBPC1-related autosomal recessive non-lethal AMC syndrome" EXACT [Orphanet:498693]
xref: GARD:22035 {source="MONDO:GARD"}
xref: MEDGEN:1814448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:498693 {source="MONDO:equivalentTo"}
xref: UMLS:C5680092 {source="MEDGEN:1814448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015168 {source="Orphanet:498693"} ! arthrogryposis multiplex congenita
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 {source="https://orcid.org/0000-0002-6601-2165"} ! MYBPC1

[Term]
id: MONDO:0044683
name: obsolete limbic encephalitis with neurexin-3 antibodies
xref: Orphanet:498700 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5802" xsd:anyURI
is_obsolete: true
consider: MONDO:0020640

[Term]
id: MONDO:0044684
name: obsolete tuberculous meningitis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4239" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006042

[Term]
id: MONDO:0044685
name: autoimmune/inflammatory optic neuropathy
subset: disease_grouping
subset: gard_rare {source="GARD:22037", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:499047"}
subset: rare
xref: GARD:22037 {source="MONDO:GARD"}
xref: MEDGEN:1842963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:499047 {source="MONDO:equivalentTo"}
xref: UMLS:C5681239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842963"}
is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder

[Term]
id: MONDO:0044687
name: chronic relapsing inflammatory optic neuropathy
def: "A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves." [Orphanet:499085]
subset: gard_rare {source="GARD:22038", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:499085"}
subset: rare
synonym: "chronic recurrent isolated optic neuritis" EXACT [Orphanet:499085]
synonym: "CRION" EXACT ABBREVIATION [Orphanet:499085]
xref: GARD:22038 {source="MONDO:GARD"}
xref: MEDGEN:1798657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:499085 {source="MONDO:equivalentTo"}
xref: UMLS:C5567234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798657"}
is_a: MONDO:0044685 {source="Orphanet:499085"} ! autoimmune/inflammatory optic neuropathy
relationship: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0044688
name: isolated optic neuritis
def: "A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis." [Orphanet:499096]
subset: gard_rare {source="GARD:22039", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:499096"}
subset: orphanet_rare {source="Orphanet:499096"}
subset: rare
synonym: "ion" EXACT [Orphanet:499096]
xref: GARD:22039 {source="MONDO:GARD"}
xref: MEDGEN:43952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:499096 {source="MONDO:equivalentTo"}
xref: UMLS:C0022023 {source="MEDGEN:43952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044685 {source="Orphanet:499096"} ! autoimmune/inflammatory optic neuropathy
relationship: has_characteristic MONDO:0021128 ! has an isolated presentation

[Term]
id: MONDO:0044689
name: recurrent idiopathic neuroretinitis
def: "A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe." [Orphanet:499103]
subset: gard_rare {source="GARD:22040", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:499103"}
subset: orphanet_rare {source="Orphanet:499103"}
subset: rare
synonym: "RINR" EXACT ABBREVIATION [Orphanet:499103]
xref: GARD:22040 {source="MONDO:GARD"}
xref: MEDGEN:1814450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:499103 {source="MONDO:equivalentTo"}
xref: UMLS:C5680094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814450"}
is_a: MONDO:0044685 {source="Orphanet:499103"} ! autoimmune/inflammatory optic neuropathy
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0044690
name: optic perineuritis
def: "A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral." [Orphanet:499107]
subset: gard_rare {source="GARD:22041", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:499107"}
subset: orphanet_rare {source="Orphanet:499107"}
subset: rare
synonym: "OPN" EXACT ABBREVIATION [Orphanet:499107]
xref: GARD:22041 {source="MONDO:GARD"}
xref: icd11.foundation:349248275 {source="MONDO:equivalentTo", source="Orphanet:499107", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:881493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:499107 {source="MONDO:equivalentTo"}
xref: SCTID:713417000 {source="MONDO:equivalentTo"}
xref: UMLS:C4076165 {source="MEDGEN:881493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044685 {source="Orphanet:499107"} ! autoimmune/inflammatory optic neuropathy

[Term]
id: MONDO:0044696
name: early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
subset: gard_rare {source="GARD:17923", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500144"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:500144"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" RELATED [OMIM:617669]
synonym: "PEBAS" RELATED ABBREVIATION [OMIM:617669]
xref: GARD:17923 {source="MONDO:GARD"}
xref: MEDGEN:1798652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617669 {source="MONDO:equivalentTo", source="Orphanet:500144"}
xref: Orphanet:500144 {source="OMIM:617669", source="MONDO:equivalentTo"}
xref: UMLS:C5567229 {source="MEDGEN:1798652", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:500144"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500144", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0044699
name: SIN3A-related intellectual disability syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22043", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500163"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:500163"}
subset: rare
xref: GARD:22043 {source="MONDO:GARD"}
xref: Orphanet:500163 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:500163"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
intersection_of: MONDO:0000508 ! syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19353 ! SIN3A
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500163", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044700
name: SIN3A-related intellectual disability syndrome due to a point mutation
subset: gard_rare {source="GARD:17925", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_etiological_subtype
subset: ordo_subtype_of_a_disorder {source="Orphanet:500166"}
subset: rare
xref: GARD:17925 {source="MONDO:GARD"}
xref: MEDGEN:934771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:500166 {source="MONDO:equivalentTo"}
xref: UMLS:C4310804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934771"}
is_a: MONDO:0044699 {source="Orphanet:500166"} ! SIN3A-related intellectual disability syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0044701
name: childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
subset: gard_rare {source="GARD:13658", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500180"}
subset: orphanet_rare {source="Orphanet:500180"}
subset: rare
synonym: "CONDBA" RELATED ABBREVIATION [OMIM:617672]
synonym: "neurodegeneration, childhood-onset, with brain atrophy" RELATED [OMIM:617672]
synonym: "UBTF-related disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: DOID:0070474 {source="MONDO:equivalentTo"}
xref: GARD:13658 {source="MONDO:GARD"}
xref: MEDGEN:1626007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617672 {source="MONDO:equivalentTo", source="Orphanet:500180"}
xref: Orphanet:500180 {source="MONDO:equivalentTo", source="OMIM:617672"}
xref: UMLS:C4540086 {source="MEDGEN:1626007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="https://orcid.org/0000-0001-5208-3432"} ! movement disorder
is_a: MONDO:0015159 {source="Orphanet:500180"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0020022 ! central nervous system malformation
relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500180", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044702
name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
subset: gard_rare {source="GARD:17926", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500188"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:500188"}
subset: rare
synonym: "deafness, X-linked 7" EXACT [OMIM:301018]
synonym: "deafness, X-linked 7, X-linked recessive" NARROW [OMIM:301018, OMIM:genemap2]
synonym: "DFNX7" EXACT ABBREVIATION [OMIM:301018]
xref: DOID:0111738 {source="MONDO:equivalentTo"}
xref: GARD:17926 {source="MONDO:GARD"}
xref: MEDGEN:1648389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301018 {source="MONDO:equivalentTo"}
xref: Orphanet:500188 {source="MONDO:equivalentTo", source="OMIM:301018"}
xref: UMLS:C4746975 {source="MEDGEN:1648389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis
is_a: MONDO:0020768 {source="MONDO:301018"} ! X-linked deafness
is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease
relationship: has_characteristic HP:0001417 ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0044704
name: oropharynx squamous cell carcinoma
def: "A squamous cell carcinoma that involves the oropharynx." [MONDO:patterns/location]
subset: gard_rare {source="GARD:17928", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500478"}
subset: orphanet_rare {source="Orphanet:500478"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of oropharynx" EXACT [NCIT:C8181]
synonym: "epidermoid carcinoma of the oropharynx" EXACT [NCIT:C8181]
synonym: "oropharyngeal epidermoid carcinoma" EXACT [NCIT:C8181]
synonym: "oropharyngeal squamous cell carcinoma" EXACT [NCIT:C8181]
synonym: "oropharyngeal throat squamous cell cancer" EXACT [NCIT:C8181]
synonym: "squamous cell carcinoma of oropharynx" EXACT [NCIT:C8181]
synonym: "squamous cell carcinoma of the oropharynx" RELATED [Orphanet:500478]
xref: GARD:17928 {source="MONDO:GARD"}
xref: icd11.foundation:839740136 {source="Orphanet:500478", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:76094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8181 {source="MONDO:equivalentTo"}
xref: ONCOTREE:OPHSC {source="MONDO:equivalentTo"}
xref: Orphanet:500478 {source="MONDO:equivalentTo"}
xref: UMLS:C0280313 {source="MEDGEN:76094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001729 ! oropharynx

[Term]
id: MONDO:0044705
name: paranasal sinus squamous cell carcinoma
def: "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." [NCIT:C8193]
subset: gard_rare {source="GARD:17927", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:500464"}
subset: orphanet_rare {source="Orphanet:500464"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of paranasal sinus" EXACT [NCIT:C8193]
synonym: "epidermoid carcinoma of the paranasal sinus" EXACT [NCIT:C8193]
synonym: "paranasal sinus epidermoid carcinoma" EXACT [NCIT:C8193]
synonym: "paranasal sinus squamous cell carcinoma" EXACT [NCIT:C8193]
synonym: "squamous cell carcinoma of paranasal sinus" EXACT [NCIT:C8193]
synonym: "squamous cell carcinoma of the nasal cavity and paranasal sinuses" RELATED [Orphanet:500464]
synonym: "squamous cell carcinoma of the nasal cavity and sinuses" EXACT [Orphanet:500464]
synonym: "squamous cell carcinoma of the paranasal sinus" EXACT [NCIT:C8193]
xref: GARD:17927 {source="MONDO:GARD"}
xref: MEDGEN:79105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8193 {source="MONDO:equivalentTo"}
xref: Orphanet:500464 {source="MONDO:equivalentTo"}
xref: UMLS:C0280334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79105"}
is_a: MONDO:0000380 {source="MONDO:Redundant", source="NCIT:C8193"} ! paranasal sinus carcinoma
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus

[Term]
id: MONDO:0044709
name: cochleovestibular dysplasia
subset: gard_rare {source="GARD:22044", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:502305"}
subset: ordo_morphological_anomaly
subset: orphanet_rare {source="Orphanet:502305"}
subset: rare
xref: GARD:22044 {source="MONDO:GARD"}
xref: MEDGEN:1818562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:502305 {source="MONDO:equivalentTo"}
xref: UMLS:C5761642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1818562"}
is_a: MONDO:0015604 {source="Orphanet:502305"} ! middle ear anomaly

[Term]
id: MONDO:0044710
name: lip and oral cavity squamous cell carcinoma
def: "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." [NCIT:C42690]
subset: disease_grouping
subset: gard_rare {source="GARD:22046", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:502369"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lip and oral cavity squamous cell cancer" EXACT [NCIT:C42690]
synonym: "lip and oral cavity squamous cell carcinoma" EXACT [NCIT:C42690]
synonym: "lip/oral cavity squam. cell car." EXACT [NCIT:C42690]
synonym: "squamous cell carcinoma of oral cavity and lip" RELATED [Orphanet:502369]
xref: GARD:22046 {source="MONDO:GARD"}
xref: MEDGEN:124714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C42690 {source="MONDO:equivalentTo"}
xref: Orphanet:502369 {source="MONDO:equivalentTo"}
xref: UMLS:C0280297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124714"}
is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm
is_a: MONDO:0010150 {source="MONDO:Redundant", source="NCIT:C42690"} ! head and neck squamous cell carcinoma
is_a: MONDO:0023644 {source="MONDO:Redundant", source="NCIT:C42690"} ! lip and oral cavity carcinoma
is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease
intersection_of: MONDO:0010150 {source="NCIT:C42690"} ! head and neck squamous cell carcinoma
intersection_of: MONDO:0023644 {source="NCIT:C42690"} ! lip and oral cavity carcinoma

[Term]
id: MONDO:0044714
name: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
subset: gard_rare {source="GARD:17934", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:502423"}
subset: orphanet_rare {source="Orphanet:502423"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome" EXACT [Orphanet:502423]
synonym: "MMYAT" RELATED ABBREVIATION [OMIM:617675]
synonym: "myopathy, mitochondrial, and ataxia" RELATED [OMIM:617675]
xref: GARD:17934 {source="MONDO:GARD"}
xref: MEDGEN:1620960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617675 {source="Orphanet:502423", source="MONDO:equivalentTo"}
xref: Orphanet:502423 {source="MONDO:equivalentTo", source="OMIM:617675"}
xref: UMLS:C4540096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620960"}
is_a: MONDO:0009637 {source="Orphanet:502423"} ! inborn mitochondrial myopathy
relationship: excluded_subClassOf MONDO:0100309 {source="Orphanet:502423", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia

[Term]
id: MONDO:0044715
name: metopic ridging-ptosis-facial dysmorphism syndrome
subset: gard_rare {source="GARD:22047", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:502430"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:502430"}
subset: rare
xref: GARD:22047 {source="MONDO:GARD"}
xref: MEDGEN:1799530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:502430 {source="MONDO:equivalentTo"}
xref: UMLS:C5568107 {source="MEDGEN:1799530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015160 {source="Orphanet:502430"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0015338 {source="Orphanet:502430"} ! syndromic craniosynostosis
is_a: MONDO:0015469 {source="https://orcid.org/0000-0002-4142-7153"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0044716
name: obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
is_obsolete: true
replaced_by: MONDO:0030912

[Term]
id: MONDO:0044717
name: 4q25 proximal deletion syndrome
subset: gard_rare {source="GARD:22048", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:502437"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:502437"}
subset: rare
synonym: "proximal del(4)(q25)" EXACT [Orphanet:502437]
synonym: "proximal monosomy 4q25" EXACT [Orphanet:502437]
xref: GARD:22048 {source="MONDO:GARD"}
xref: MEDGEN:1814447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:502437 {source="MONDO:equivalentTo"}
xref: UMLS:C5680087 {source="MONDO:equivalentTo", source="MEDGEN:1814447", source="MONDO:MEDGEN"}
is_a: MONDO:0015160 {source="Orphanet:502437"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0016903 {source="Orphanet:502437"} ! partial deletion of the long arm of chromosome 4
relationship: disease_arises_from_structure CHR:9606-chr4q25 {source="https://orcid.org/0000-0002-4142-7153"} ! 4q25 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0044718
name: alkaline ceramidase 3 deficiency
subset: gard_rare {source="GARD:17936", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:502444"}
subset: orphanet_rare {source="Orphanet:502444"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACER3-related early childhood-onset progressive leukodystrophy" EXACT [Orphanet:502444]
synonym: "leukodystrophy due to alkaline ceramidase 3 deficiency" EXACT [Orphanet:502444]
synonym: "leukodystrophy, progressive, early childhood-onset" RELATED [OMIM:617762]
synonym: "PLDECO" RELATED ABBREVIATION [OMIM:617762]
xref: GARD:17936 {source="MONDO:GARD"}
xref: MEDGEN:1622324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617762 {source="MONDO:equivalentTo", source="Orphanet:502444"}
xref: Orphanet:502444 {source="MONDO:equivalentTo", source="OMIM:617762"}
xref: UMLS:C4540358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1622324"}
is_a: MONDO:0019046 {source="Orphanet:502444"} ! leukodystrophy

[Term]
id: MONDO:0044719
name: erythema multiforme major
def: "A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area." [NCIT:C3385]
subset: gard_rare {source="GARD:22049", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:502499"}
subset: orphanet_rare {source="Orphanet:502499"}
subset: rare
synonym: "erythema exsudativum multiforme majus" EXACT [Orphanet:502499]
synonym: "erythema multiforme majus" EXACT [Orphanet:502499]
xref: GARD:22049 {source="MONDO:GARD"}
xref: MEDGEN:469028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3385 {source="MONDO:equivalentTo"}
xref: Orphanet:502499 {source="MONDO:equivalentTo"}
xref: UMLS:C3241919 {source="MEDGEN:469028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017396 {source="Orphanet:502499"} ! toxic dermatosis

[Term]
id: MONDO:0044720
name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
subset: gard_rare {source="GARD:17937", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:504476"}
subset: orphanet_rare {source="Orphanet:504476"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CABV syndrome" EXACT [Orphanet:504476]
synonym: "CANVAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614575, Orphanet:504476]
synonym: "cerebellar ataxia with bilateral vestibulopathy syndrome" EXACT [Orphanet:504476]
synonym: "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" EXACT [MONDO:Lexical, OMIM:614575]
xref: GARD:17937 {source="MONDO:GARD"}
xref: MEDGEN:482853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614575 {source="MONDO:equivalentTo"}
xref: Orphanet:504476 {source="MONDO:equivalentTo"}
xref: UMLS:C3281223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482853"}
is_a: MONDO:0003847 {source="OMIM:614575"} ! hereditary disease
is_a: MONDO:0020047 {source="Orphanet:504476"} ! autosomal recessive syndromic cerebellar ataxia
is_a: MONDO:0024623 {source="Orphanet:504476"} ! otorhinolaryngologic disease
relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4894" xsd:anyURI

[Term]
id: MONDO:0044721
name: severe combined immunodeficiency due to LAT deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17938", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:504523"}
subset: orphanet_rare {source="Orphanet:504523"}
subset: rare
synonym: "IMD52" RELATED ABBREVIATION [OMIM:617514]
synonym: "immunodeficiency 52" RELATED [OMIM:617514]
synonym: "SCID due to LAT deficiency" EXACT [Orphanet:504523]
xref: DOID:0111983 {source="MONDO:equivalentTo"}
xref: GARD:17938 {source="MONDO:GARD"}
xref: MEDGEN:1384124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617514 {source="MONDO:equivalentTo", source="Orphanet:504523"}
xref: Orphanet:504523 {source="OMIM:617514", source="MONDO:equivalentTo"}
xref: UMLS:C4479588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1384124"}
is_a: MONDO:0044200 {source="Orphanet:504523", source="PMID:31953710"} ! T-B+ severe combined immunodeficiency

[Term]
id: MONDO:0044723
name: 3-methylglutaconic aciduria type 8
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22050", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:505208"}
subset: orphanet_rare {source="Orphanet:505208"}
subset: rare
synonym: "3-methylglutaconic aciduria type VIII" RELATED [DOID:0070000]
synonym: "3-methylglutaconic aciduria type VIII, MGCA8" EXACT [DOID:0070000]
synonym: "3-Methylglutaconic aciduria, type 8" RELATED [OMIM:617248]
synonym: "3-methylglutaconic aciduria, type VIII" EXACT [MONDO:0014988, OMIM:617248]
synonym: "3-methylglutaconic aciduria, type VIII; MGCA8" EXACT []
synonym: "MGA8" EXACT ABBREVIATION [Orphanet:505208]
synonym: "MGCA8" EXACT ABBREVIATION [OMIM:617248]
xref: DOID:0070000 {source="MONDO:equivalentTo"}
xref: GARD:22050 {source="MONDO:GARD"}
xref: MEDGEN:934617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617248 {source="MONDO:equivalentTo"}
xref: Orphanet:505208 {source="MONDO:equivalentTo"}
xref: UMLS:C4310650 {source="MEDGEN:934617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017359 {source="DC-OMIM:617248", source="OMIM:617248", source="Orphanet:505208"} ! 3-methylglutaconic aciduria
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14348 {source="MONDO:mim2gene_medgen"} ! HTRA2

[Term]
id: MONDO:0044724
name: 3-methylglutaconic aciduria type 9
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17940", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:505216"}
subset: orphanet_rare {source="Orphanet:505216"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-Methylglutaconic aciduria, type 9" RELATED [OMIM:617698]
synonym: "3-METHYLGLUTACONIC aciduria, type IX" RELATED [OMIM:617698]
synonym: "3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome" EXACT [Orphanet:505216]
synonym: "3-methylglutaconic acuduria type IX" RELATED [DOID:0070002]
synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT [DOID:0070002]
synonym: "MGA9" EXACT ABBREVIATION [Orphanet:505216]
synonym: "MGCA9" RELATED ABBREVIATION [OMIM:617698]
xref: DOID:0070002 {source="MONDO:equivalentTo"}
xref: GARD:17940 {source="MONDO:GARD"}
xref: MEDGEN:1622927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617698 {source="MONDO:equivalentTo", source="Orphanet:505216"}
xref: Orphanet:505216 {source="OMIM:617698", source="MONDO:equivalentTo"}
xref: UMLS:C4540171 {source="MEDGEN:1622927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017359 {source="OMIM:617698", source="Orphanet:505216"} ! 3-methylglutaconic aciduria
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505216", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare

[Term]
id: MONDO:0044725
name: combined immunodeficiency due to GINS1 deficiency
subset: gard_rare {source="GARD:17941", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:505227"}
subset: orphanet_rare {source="Orphanet:505227"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CID due to GINS1 deficiency" EXACT [Orphanet:505227]
synonym: "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia" EXACT [Orphanet:505227]
synonym: "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia" EXACT [Orphanet:505227]
synonym: "IMD55" RELATED ABBREVIATION [OMIM:617827]
synonym: "immunodeficiency 55" RELATED [OMIM:617827]
xref: DOID:0111993 {source="MONDO:equivalentTo"}
xref: GARD:17941 {source="MONDO:GARD"}
xref: MEDGEN:1799555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617827 {source="MONDO:equivalentTo", source="Orphanet:505227"}
xref: Orphanet:505227 {source="MONDO:equivalentTo", source="OMIM:617827"}
xref: UMLS:C5568132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799555"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0021094 {source="OMIM:617827"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3191" xsd:anyURI

[Term]
id: MONDO:0044726
name: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
subset: gard_rare {source="GARD:17943", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:505242"}
subset: orphanet_rare {source="Orphanet:505242"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BILAPES" RELATED ABBREVIATION [OMIM:617595]
synonym: "Birk-Landau-Perez syndrome" RELATED [OMIM:617595]
synonym: "Cerebrorenal syndrome, Perez type" EXACT [Orphanet:505242]
xref: GARD:17943 {source="MONDO:GARD"}
xref: MEDGEN:1621949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617595 {source="MONDO:equivalentTo", source="Orphanet:505242"}
xref: Orphanet:505242 {source="MONDO:equivalentTo", source="OMIM:617595"}
xref: UMLS:C4539828 {source="MEDGEN:1621949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0005559 {source="Orphanet:505242"} ! neurodegenerative disease
is_a: MONDO:0015962 {source="Orphanet:505242"} ! inherited renal tubular disease
is_a: MONDO:0017764 {source="Orphanet:505242"} ! disorder of zinc metabolism
is_a: MONDO:0024237 {source="Orphanet:505242"} ! inherited neurodegenerative disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015918"} ! rare

[Term]
id: MONDO:0044727
name: pancreatic carcinoma with mixed differentiation
def: "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss." [NCIT:C45843]
subset: gard_rare {source="GARD:22057", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:506112"}
subset: orphanet_rare {source="Orphanet:506112"}
subset: rare
synonym: "MiNEN of pancreas" EXACT [Orphanet:506112]
synonym: "mixed exocrine-endocrine carcinoma of the pancreas" EXACT [NCIT:C45843]
synonym: "mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas" RELATED [Orphanet:506112]
synonym: "pancreatic carcinoma with mixed differentiation" EXACT [NCIT:C45843]
synonym: "pancreatic MiNEN" EXACT [Orphanet:506112]
synonym: "pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm" EXACT [Orphanet:506112]
xref: GARD:22057 {source="MONDO:GARD"}
xref: MEDGEN:353935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C45843 {source="MONDO:equivalentTo"}
xref: Orphanet:506112 {source="MONDO:equivalentTo"}
xref: UMLS:C1709050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:353935"}
is_a: MONDO:0005192 {source="MONDO:Redundant", source="NCIT:C45843"} ! exocrine pancreatic carcinoma
is_a: MONDO:0006182 {source="MONDO:Redundant", source="NCIT:C45843"} ! digestive system mixed adenoneuroendocrine carcinoma
intersection_of: MONDO:0005192 {source="NCIT:C45843"} ! exocrine pancreatic carcinoma
intersection_of: MONDO:0006182 {source="NCIT:C45843"} ! digestive system mixed adenoneuroendocrine carcinoma

[Term]
id: MONDO:0044737
name: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
subset: gard_rare {source="GARD:17946", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:506353"}
subset: orphanet_rare {source="Orphanet:506353"}
subset: rare
synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT [Orphanet:506353]
xref: DOID:0112349 {source="MONDO:equivalentTo"}
xref: GARD:17946 {source="MONDO:GARD"}
xref: MEDGEN:1799999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:506353 {source="MONDO:equivalentTo"}
xref: UMLS:C5568576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799999"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-4142-7153"} ! complex hereditary spastic paraplegia
is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:506353", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0044738
name: Gabriele de Vries syndrome
subset: gard_rare {source="GARD:17947", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:506358"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:506358"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Gabriele-De Vries syndrome" RELATED [OMIM:617557]
synonym: "Gabriele-de Vries syndrome" RELATED [OMIM:617557]
synonym: "GADEVS" RELATED ABBREVIATION [OMIM:617557]
synonym: "YY1 haploinsufficiency syndrome" EXACT [Orphanet:506358]
xref: GARD:17947 {source="MONDO:GARD"}
xref: MEDGEN:1375401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617557 {source="MONDO:equivalentTo", source="Orphanet:506358"}
xref: Orphanet:506358 {source="OMIM:617557", source="MONDO:equivalentTo"}
xref: UMLS:C4479652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1375401"}
is_a: MONDO:0015159 {source="Orphanet:506358"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:506358", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0044739
name: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
subset: gard_rare {source="GARD:22066", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:506784"}
subset: rare
synonym: "SJS/TEN overlap syndrome" EXACT [Orphanet:506784]
synonym: "Stevens-Johnson/TEN overlap syndrome" EXACT [Orphanet:506784]
synonym: "Stevens-Johnson/toxic epidermal necrolysis overlap syndrome" EXACT [Orphanet:506784]
xref: GARD:22066 {source="MONDO:GARD"}
xref: ICD10CM:L51.8 {source="Orphanet:506784"}
xref: icd11.foundation:496418968 {source="MONDO:equivalentTo", source="Orphanet:506784", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:783034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:506784 {source="MONDO:equivalentTo"}
xref: UMLS:C3661878 {source="MEDGEN:783034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005594 {source="PMID:29445753"} ! severe cutaneous adverse reaction
is_a: MONDO:0019810 {source="Orphanet:506784"} ! toxic epidermal necrolysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7258" xsd:string

[Term]
id: MONDO:0044740
name: salivary gland squamous cell carcinoma
def: "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course." [NCIT:C7991]
subset: gard_rare {source="GARD:17929", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_histopathological_subtype
subset: ordo_subtype_of_a_disorder {source="Orphanet:500481"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "epidermoid carcinoma of salivary gland" EXACT [NCIT:C7991]
synonym: "epidermoid carcinoma of the salivary gland" EXACT [NCIT:C7991]
synonym: "saliva-secreting gland squamous cell carcinoma" EXACT []
synonym: "salivary gland epidermoid carcinoma" EXACT [NCIT:C7991]
synonym: "salivary gland SCC" EXACT [NCIT:C7991]
synonym: "salivary gland squamous cell cancer" EXACT [NCIT:C7991]
synonym: "salivary gland squamous cell carcinoma" EXACT [NCIT:C7991]
synonym: "SCC of salivary gland" EXACT [NCIT:C7991]
synonym: "SCC of the salivary gland" EXACT [NCIT:C7991]
synonym: "squamous cell carcinoma of salivary gland" EXACT [NCIT:C7991]
synonym: "squamous cell carcinoma of salivary glands" RELATED [Orphanet:500481]
synonym: "squamous cell carcinoma of the salivary gland" EXACT [NCIT:C7991]
xref: EFO:1001967 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:17929 {source="MONDO:GARD"}
xref: MEDGEN:83545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7991 {source="MONDO:equivalentTo"}
xref: Orphanet:500481 {source="MONDO:equivalentTo"}
xref: UMLS:C0279697 {source="MEDGEN:83545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C7991"} ! salivary gland carcinoma
is_a: MONDO:0010150 {source="NCIT:C7991"} ! head and neck squamous cell carcinoma
is_a: MONDO:0017167 {source="Orphanet:500481"} ! malignant epithelial tumor of salivary glands
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland

[Term]
id: MONDO:0044742
name: autosomal recessive epidermolytic ichthyosis
subset: gard_rare {source="GARD:22074", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:512103"}
subset: orphanet_rare {source="Orphanet:512103"}
subset: rare
synonym: "AREI" EXACT ABBREVIATION [Orphanet:512103]
xref: GARD:22074 {source="MONDO:GARD"}
xref: MEDGEN:1725198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200612 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200989 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:512103 {source="MONDO:equivalentTo"}
xref: UMLS:C5437635 {source="MEDGEN:1725198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007239 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolytic ichthyosis
is_a: MONDO:0017266 {source="Orphanet:512103"} ! keratinopathic ichthyosis
intersection_of: MONDO:0007239 ! epidermolytic ichthyosis
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance

[Term]
id: MONDO:0044743
name: major salivary gland cancer
def: "A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C4762]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of major salivary gland" EXACT [MONDO:patterns/cancer]
synonym: "malignant major salivary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4762]
synonym: "malignant major salivary gland tumor" EXACT [NCIT:C4762]
synonym: "malignant major salivary gland tumour" EXACT OMO:0003005 []
synonym: "malignant neoplasm of major salivary gland" EXACT [MONDO:patterns/cancer, NCIT:C4762]
synonym: "malignant neoplasm of major salivary glands" RELATED []
synonym: "malignant neoplasm of the major salivary gland" EXACT [NCIT:C4762]
synonym: "malignant tumor of major salivary gland" EXACT [NCIT:C4762]
synonym: "malignant tumor of the major salivary gland" EXACT [NCIT:C4762]
synonym: "malignant tumour of major salivary gland" EXACT OMO:0003005 []
synonym: "malignant tumour of the major salivary gland" EXACT OMO:0003005 []
xref: MEDGEN:96919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4762 {source="MONDO:equivalentTo"}
xref: SCTID:363378008 {source="MONDO:equivalentTo"}
xref: UMLS:C0496763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96919"}
is_a: MONDO:0004669 {source="MONDO:Redundant", source="NCIT:C4762"} ! salivary gland cancer
is_a: MONDO:0004992 ! cancer
is_a: MONDO:0021368 {source="MONDO:Redundant", source="NCIT:C4762"} ! neoplasm of major salivary gland
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001829 ! major salivary gland

[Term]
id: MONDO:0044744
name: prekallikrein deficiency
def: "A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease." [NCIT:C99022]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "prekallikrein deficiency" EXACT [NCIT:C99022]
xref: MEDGEN:75779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200684 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C99022 {source="MONDO:equivalentTo"}
xref: SCTID:48976006 {source="MONDO:equivalentTo"}
xref: UMLS:C0272339 {source="MEDGEN:75779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001531 ! blood coagulation disease

[Term]
id: MONDO:0044745
name: nervous system injury
def: "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." [MESH:D020196]
subset: otar {source="MONDO:OTAR"}
synonym: "craniocervical Injuries" RELATED [MESH:D020196]
synonym: "craniocervical injury" RELATED [MESH:D020196]
synonym: "Injuries, craniocervical" RELATED [MESH:D020196]
synonym: "Injuries, nervous system" RELATED [MESH:D020196]
synonym: "injury of nervous system" EXACT [MONDO:design_pattern]
synonym: "injury, craniocervical" RELATED [MESH:D020196]
synonym: "injury, nervous system" RELATED [MESH:D020196]
synonym: "nervous system Injuries" RELATED [MESH:D020196]
synonym: "nervous system injury" EXACT [MESH:D020196, MONDO:patterns/location]
synonym: "nervous system trauma" RELATED [MESH:D020196]
synonym: "nervous system Traumas" RELATED [MESH:D020196]
xref: EFO:0009490 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D020196 {source="MONDO:equivalentTo"}
xref: SCTID:128239009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="MESH:D020196", source="MONDO:Redundant"} ! nervous system disorder
is_a: MONDO:0021178 {source="MESH:D020196", source="MONDO:Redundant"} ! injury
intersection_of: MONDO:0021178 ! injury
intersection_of: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0044746
name: obsolete zoonotic bacterial infection
def: "OBSOLETE. A bacterial infection that is transmitted from animals to people." [NCIT:C35373]
comment: Reason of obsoletion: out of scope - MONDO:excludeEvent. Term to consider: -
synonym: "Bacteria caused zoonoses" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria zoonoses" EXACT []
synonym: "zoonotic bacterial disease" EXACT [NCIT:C35373]
synonym: "zoonotic bacterial infection" EXACT [NCIT:C35373]
xref: ICD10CM:A20-A28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: NCIT:C35373 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeEvent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5898" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044747
name: obsolete human anaplasmosis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5897" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0025303

[Term]
id: MONDO:0044748
name: anaplasmosis in cattle
def: "A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA." [MESH:D000712]
synonym: "Anaplasmoses" RELATED [MESH:D000712]
xref: MESH:D000712
is_a: MONDO:0005583 {source="MESH:D000712", source="MONDO:indirect"} ! non-human animal disease
is_a: MONDO:0024913 ! cattle disease
is_a: MONDO:0700113 {source="MESH:D000712", source="MONDO:indirect"} ! Anaplasmataceae infectious disease, non-human animal
is_a: MONDO:0700201 {source="MESH:D000712", source="MONDO:indirect"} ! tick-borne infectious disease, non-human animal
relationship: in_taxon NCBITaxon:9845 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Ruminantia
relationship: MONDO:0700097 MONDO:0025303 {source="https://orcid.org/0000-0002-4142-7153"} ! cross-species analog anaplasmosis

[Term]
id: MONDO:0044749
name: X-linked congenital stationary night blindness
def: "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause." [GARD:0003995]
subset: gard_rare {source="GARD:3995", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "congenital stationary night blindness, X-linked" EXACT [MONDO:patterns/x_linked]
synonym: "X-linked CSNB" EXACT [GARD:0003995]
synonym: "XLCSNB" EXACT ABBREVIATION [GARD:0003995-def]
xref: GARD:3995 {source="MONDO:GARD"}
xref: Orphanet:215 {source="GARD:0003995", source="MONDO:relatedTo"}
intersection_of: MONDO:0016293 ! congenital stationary night blindness
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0044750
name: lassa virus infectious disease
subset: otar {source="MONDO:OTAR"}
synonym: "infection caused by Lassa virus" EXACT []
synonym: "Lassa virus infection" EXACT []
xref: MEDGEN:923253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:721779001 {source="MONDO:equivalentTo"}
xref: UMLS:C1617072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:923253"}
is_a: MONDO:0005650 {source="MONDO:Redundant"} ! Arenaviridae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:11620 ! disease has primary infectious agent

[Term]
id: MONDO:0044751
name: chronic diarrheal disease
def: "Chronic form of diarrheal disease." [MONDO:patterns/chronic]
subset: otar {source="MONDO:OTAR"}
synonym: "chronic diarrhea" EXACT []
synonym: "chronic diarrhoea" EXACT OMO:0003005 []
synonym: "diarrheal disease, chronic" EXACT [MONDO:patterns/chronic]
xref: MEDGEN:96036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:236071009 {source="MONDO:equivalentTo"}
xref: UMLS:C0401151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96036"}
intersection_of: MONDO:0001673 ! diarrheal disease
intersection_of: has_characteristic PATO:0001863 ! chronic

[Term]
id: MONDO:0044753
name: lumbar spinal stenosis
def: "A spinal stenosis that involves the lumbar region of vertebral column." [MONDO:patterns/location]
synonym: "lumbar region of vertebral column spinal stenosis" EXACT [MONDO:patterns/location]
synonym: "lumbar spinal stenosis" EXACT []
synonym: "spinal stenosis of lumbar region" EXACT []
synonym: "spinal stenosis of lumbar region of vertebral column" EXACT []
xref: HP:0004610 {source="MONDO:otherHierarchy"}
xref: ICD9:724.02
xref: MEDGEN:488791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C177445 {source="MONDO:equivalentTo"}
xref: SCTID:18347007 {source="MONDO:equivalentTo"}
xref: UMLS:C0158288 {source="MEDGEN:488791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005965 {source="https://orcid.org/0000-0002-4142-7153"} ! spinal stenosis
intersection_of: MONDO:0005965 ! spinal stenosis
intersection_of: disease_has_location UBERON:0006074 ! lumbar region of vertebral column

[Term]
id: MONDO:0044762
name: diarrheal disease secondary to increased bowel motility
def: "A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease." [https://www.ncbi.nlm.nih.gov/books/NBK414/]
synonym: "diarrhea from increased bowel motility" EXACT []
synonym: "diarrhoea from increased bowel motility" EXACT OMO:0003005 []
synonym: "motility-related diarrhea" BROAD [DOID:0050131]
synonym: "motility-related diarrhoea" BROAD OMO:0003005 []
xref: DOID:0050131 {source="MONDO:equivalentTo"}
is_a: MONDO:0000251 ! diarrheal disease secondary to altered bowel motility

[Term]
id: MONDO:0044763
name: diarrheal disease secondary to decreased bowel motility
def: "A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion." [https://www.ncbi.nlm.nih.gov/books/NBK414/]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "diarrhea from decreased bowel motility" EXACT []
synonym: "diarrhoea from decreased bowel motility" EXACT OMO:0003005 []
is_a: MONDO:0000251 ! diarrheal disease secondary to altered bowel motility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0044764
name: benign choroid plexus neoplasm
subset: inferred_rare
subset: rare
synonym: "benign choroid plexus neoplasm" EXACT [NCIT:C8405]
synonym: "benign choroid plexus neoplasms" EXACT [NCIT:C8405]
synonym: "benign choroid plexus tumor" EXACT [NCIT:C8405]
synonym: "benign choroid plexus tumors" EXACT [NCIT:C8405]
synonym: "benign choroid plexus tumour" EXACT OMO:0003005 []
synonym: "benign choroid plexus tumours" EXACT OMO:0003005 []
synonym: "benign neoplasm of choroid plexus" EXACT [NCIT:C8405]
synonym: "benign neoplasm of the choroid plexus" EXACT [NCIT:C8405]
synonym: "benign tumor of choroid plexus" EXACT [NCIT:C8405]
synonym: "benign tumor of the choroid plexus" EXACT [NCIT:C8405]
synonym: "benign tumour of choroid plexus" EXACT OMO:0003005 []
synonym: "benign tumour of the choroid plexus" EXACT OMO:0003005 []
xref: MEDGEN:87549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8405 {source="MONDO:equivalentTo"}
xref: SCTID:254943007 {source="MONDO:equivalentTo"}
xref: UMLS:C0346290 {source="MEDGEN:87549", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016717 {source="NCIT:C8405"} ! choroid plexus neoplasm
is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C8405"} ! benign neoplasm of brain
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0001886 ! choroid plexus

[Term]
id: MONDO:0044765
name: steroid-resistant nephrotic syndrome
def: "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids." [NCIT:C122798]
subset: otar {source="MONDO:OTAR"}
synonym: "nephrotic syndrome of childhood - steroid resistant" EXACT [NCIT:C122798]
synonym: "nephrotic syndrome, idiopathic, steroid-resistant" NARROW [GTR:AN0096391]
synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" NARROW [GTR:AN0096395]
synonym: "nephrotic syndrome-steroid-resistant" EXACT [NCIT:C122798]
synonym: "NPHS2" RELATED ABBREVIATION [GTR:AN0200342]
synonym: "SRNS - steroid-resistant nephrotic syndrome" RELATED []
synonym: "steroid-resistant nephrotic syndrome" EXACT [GTR:AN0255485]
synonym: "steroid-unresponsive nephrotic syndrome" RELATED []
xref: GTR:AN0096391
xref: GTR:AN0096395
xref: GTR:AN0200342
xref: GTR:AN0255485
xref: MEDGEN:588369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122798 {source="MONDO:equivalentTo"}
xref: SCTID:236381000 {source="MONDO:equivalentTo"}
xref: UMLS:C0403397 {source="MONDO:equivalentTo", source="MEDGEN:588369", source="MONDO:MEDGEN"}
is_a: MONDO:0005377 {source="NCIT:C122798"} ! nephrotic syndrome

[Term]
id: MONDO:0044766
name: obsolete Marfan Syndrome 3
synonym: "Marfan syndrome type 3" RELATED [GTR:AN0100577]
synonym: "MFS 3" RELATED [GTR:AN0100578]
xref: GTR:AN0100577
xref: GTR:AN0100578
is_obsolete: true

[Term]
id: MONDO:0044767
name: childhood adrenal gland pheochromocytoma
def: "A rare pheochromocytoma of the adrenal gland that occurs during childhood." [NCIT:C118822]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood adrenal gland pheochromocytoma" EXACT [NCIT:C118822]
synonym: "malignant childhood adrenal gland pheochromocytoma" EXACT [DOID:0070325]
synonym: "pheochromocytoma, childhood" RELATED [GTR:AN0102113]
xref: DOID:0070325 {source="MONDO:equivalentTo"}
xref: GTR:AN0102113
xref: MEDGEN:859271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118822 {source="MONDO:equivalentTo", source="DOID:0070325"}
xref: UMLS:C3899677 {source="MEDGEN:859271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004974 {source="DOID:0070325", source="NCIT:C118822"} ! adrenal gland pheochromocytoma
intersection_of: MONDO:0004974 ! adrenal gland pheochromocytoma
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0044768
name: vagus nerve paraganglioma
def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." [NCIT:C8427]
subset: gard_rare {source="GARD:8620", source="MONDO:GARD"}
subset: rare
synonym: "paraganglioma of the vagal body" EXACT [NCIT:C8427]
synonym: "paraganglioma of the vagus nerve" EXACT [NCIT:C8427]
synonym: "paraganglioma of vagal body" EXACT [NCIT:C8427]
synonym: "paraganglioma of vagus nerve" EXACT [NCIT:C8427]
synonym: "vagal body paraganglioma" EXACT [NCIT:C8427]
synonym: "vagal paraganglioma" EXACT [GARD:0008620, NCIT:C8427]
synonym: "vagus nerve paraganglioma" EXACT [MONDO:patterns/location, NCIT:C8427]
xref: GARD:8620 {source="MONDO:GARD"}
xref: NCIT:C8427 {source="MONDO:equivalentTo"}
xref: SCTID:253030004 {source="MONDO:equivalentTo"}
is_a: MONDO:0001608 {source="MONDO:Redundant", source="NCIT:C8427"} ! vagus nerve neoplasm
is_a: MONDO:0021052 {source="NCIT:C8427"} ! parasympathetic paraganglioma
intersection_of: MONDO:0000448 ! paraganglioma
intersection_of: disease_has_location UBERON:0001759 ! vagus nerve

[Term]
id: MONDO:0044776
name: premature ovarian failure 10
def: "Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488)." [OMIM:612885]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "menopause, natural, Age At, quantitative trait locus 3" RELATED [OMIM:612885]
synonym: "Pof10" RELATED [OMIM:612885]
synonym: "premature ovarian failure 10" EXACT [OMIM:612885]
xref: DOID:0080867 {source="MONDO:equivalentTo"}
xref: MEDGEN:898849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612885 {source="MONDO:equivalentTo"}
xref: UMLS:C4225402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898849"}
is_a: MONDO:0019852 {source="OMIM:612885"} ! inherited primary ovarian failure

[Term]
id: MONDO:0044777
name: premature ovarian failure 14
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GDF9-related primary ovarian insufficiency" RELATED [GTR:AN1172965]
synonym: "POF14" RELATED ABBREVIATION [OMIM:618014]
synonym: "premature ovarian failure 14" EXACT [OMIM:618014]
xref: DOID:0080871 {source="MONDO:equivalentTo"}
xref: GTR:AN1172965
xref: MEDGEN:1646133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618014 {source="MONDO:equivalentTo"}
xref: UMLS:C4693941 {source="MEDGEN:1646133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019852 {source="OMIM:618014"} ! inherited primary ovarian failure

[Term]
id: MONDO:0044778
name: nodular lymphocyte predominant Hodgkin lymphoma
def: "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)" [NCIT:C7258]
subset: gard_rare {source="GARD:19079", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:86893"}
subset: orphanet_rare {source="Orphanet:86893"}
subset: rare
synonym: "Hodgkin lymphoma nodular LP, NOS" EXACT [NCIT:C7258]
synonym: "Hodgkin lymphoma nodular lymphocyte predominant type, NOS" EXACT [NCIT:C7258]
synonym: "NLPHL" EXACT ABBREVIATION [NCIT:C7258, Orphanet:86893]
synonym: "nodular lymphocyte predominant Hodgkin lymphoma" EXACT [NCIT:C7258]
synonym: "nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [NCIT:C7258]
synonym: "nodular lymphocyte-predominant Hodgkin lymphoma" EXACT [NCIT:C7258]
xref: GARD:19079 {source="MONDO:GARD"}
xref: ICD10CM:C81.0 {source="Orphanet:86893", source="Orphanet:86893/ntbt"}
xref: icd11.foundation:331115338 {source="Orphanet:86893", source="MONDO:equivalentTo"}
xref: MEDGEN:233758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006689 {source="UMLS:C1334968"}
xref: NANDO:1201067 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C7258 {source="MONDO:equivalentTo"}
xref: ONCOTREE:NLPHL {source="MONDO:equivalentTo"}
xref: Orphanet:86893 {source="MONDO:equivalentTo"}
xref: UMLS:C1334968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233758"}
is_a: MONDO:0004952 {source="NCIT:C7258", source="ONCOTREE:NLPHL", source="Orphanet:86893"} ! Hodgkins lymphoma
relationship: disease_has_feature MONDO:0043346 {source="NCIT:C7258"} ! progressive transformation of germinal centers

[Term]
id: MONDO:0044781
name: nephrotic syndrome of childhood - steroid sensitive
def: "Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids." [NCIT:C122797]
synonym: "nephrotic syndrome of childhood - steroid sensitive" EXACT [NCIT:C122797]
synonym: "steroid-responsive nephrotic syndrome" EXACT [NCIT:C122797]
synonym: "steroid-sensitive nephrotic syndrome" EXACT [NCIT:C122797]
xref: MEDGEN:588368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C122797 {source="MONDO:equivalentTo"}
xref: SCTID:236380004 {source="MONDO:equivalentTo"}
xref: UMLS:C0403396 {source="MEDGEN:588368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005377 {source="NCIT:C122797"} ! nephrotic syndrome
is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome

[Term]
id: MONDO:0044782
name: esophageal ulcer
def: "An ulcerated lesion in the esophageal wall." [NCIT:C26950]
subset: otar {source="MONDO:OTAR"}
synonym: "esophageal ulcer" EXACT [NCIT:C26950]
synonym: "esophagus ulcer" EXACT []
synonym: "esophagus ulcer disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "oesophagus ulcer" EXACT OMO:0003005 []
synonym: "oesophagus ulcer disease" EXACT OMO:0003005 []
synonym: "ulcer disease of esophagus" EXACT [MONDO:design_pattern]
synonym: "ulcer disease of oesophagus" EXACT OMO:0003005 []
xref: HP:0004791 {source="MONDO:otherHierarchy"}
xref: MEDGEN:56254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C26950 {source="MONDO:equivalentTo"}
xref: UMLS:C0151970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56254"}
is_a: MONDO:0003749 {source="MONDO:Redundant", source="NCIT:C26950/inferred"} ! esophageal disorder
intersection_of: MONDO:0043839 ! ulcer disease
intersection_of: disease_has_location UBERON:0001043 ! esophagus

[Term]
id: MONDO:0044783
name: solid papillary breast carcinoma
def: "A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma." [NCIT:C6870]
synonym: "solid Papillary breast carcinoma" EXACT [NCIT:C6870]
synonym: "solid Papillary carcinoma of the breast" EXACT [NCIT:C6870]
xref: MEDGEN:236831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6870 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SPC {source="MONDO:equivalentTo"}
xref: UMLS:C1336027 {source="MONDO:equivalentTo", source="MEDGEN:236831", source="MONDO:MEDGEN"}
is_a: MONDO:0003532 {source="NCIT:C6870"} ! breast papillary carcinoma

[Term]
id: MONDO:0044784
name: myxoma
def: "A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation." [NCIT:C6577]
subset: otar {source="MONDO:OTAR"}
synonym: "Myxoma" EXACT [NCIT:C6577]
synonym: "MYXOMA, BENIGN" EXACT [NCIT:C6577]
xref: MEDGEN:10160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009232 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C6577 {source="ONCOTREE:MYXO", source="MONDO:equivalentTo"}
xref: ONCOTREE:MYXO {source="MONDO:equivalentTo"}
xref: SCTID:404082003 {source="MONDO:equivalentTo"}
xref: UMLS:C0027149 {source="MEDGEN:10160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044335 {source="NCIT:C6577/inferred"} ! benign soft tissue neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0044785
name: desmoplastic melanoma
def: "A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion." [NCIT:C37257]
subset: otar {source="MONDO:OTAR"}
synonym: "desmoplastic cutaneous (skin) melanoma" EXACT [NCIT:C37257]
synonym: "desmoplastic melanoma" EXACT [NCIT:C37257]
xref: MEDGEN:232127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37257 {source="MONDO:equivalentTo", source="ONCOTREE:DESM"}
xref: ONCOTREE:DESM {source="MONDO:equivalentTo"}
xref: UMLS:C1333280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232127"}
is_a: MONDO:0005012 {source="NCIT:C37257"} ! cutaneous melanoma
is_a: MONDO:0006427 {source="NCIT:C37257"} ! spindle cell melanoma

[Term]
id: MONDO:0044786
name: solid pseudopapillary neoplasm of the pancreas
def: "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." [NCIT:C37212]
synonym: "Frantz tumor" EXACT [NCIT:C37212]
synonym: "Frantz tumour" EXACT OMO:0003005 []
synonym: "solid pseudopapillary neoplasm of the pancreas" EXACT [NCIT:C37212]
synonym: "solid pseudopapillary tumor of the pancreas" EXACT [NCIT:C37212]
synonym: "solid pseudopapillary tumour of the pancreas" EXACT OMO:0003005 []
xref: MEDGEN:234800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C37212 {source="MONDO:equivalentTo", source="ONCOTREE:SPN"}
xref: ONCOTREE:SPN {source="MONDO:equivalentTo"}
xref: UMLS:C1336030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234800"}
is_a: MONDO:0002116 {source="NCIT:C37212"} ! malignant exocrine pancreas neoplasm

[Term]
id: MONDO:0044787
name: nasal cavity and paranasal sinus squamous cell carcinoma
def: "A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group." [NCIT:C68611]
comment: Editor note: TODO add uberon term
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "nasal cavity and paranasal sinus squamous cell cancer" EXACT [NCIT:C68611]
synonym: "nasal cavity and paranasal sinus squamous cell carcinoma" EXACT [NCIT:C68611]
xref: MEDGEN:124722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C68611 {source="MONDO:equivalentTo"}
xref: UMLS:C0280332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124722"}
is_a: MONDO:0010150 {source="NCIT:C68611"} ! head and neck squamous cell carcinoma
is_a: MONDO:0056819 {source="NCIT:C68611"} ! nasal cavity and paranasal sinus carcinoma

[Term]
id: MONDO:0044788
name: perihilar intrahepatic cholangiocarcinoma
def: "An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts." [NCIT:C96804]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "perihilar bile duct carcinoma" EXACT [NCIT:C96804]
synonym: "perihilar cholangiocarcinoma" RELATED [ONCOTREE:PHCH]
synonym: "perihilar ICC" EXACT [NCIT:C96804]
synonym: "perihilar intrahepatic cholangiocarcinoma" EXACT [NCIT:C96804]
xref: NCIT:C96804 {source="MONDO:equivalentTo"}
xref: ONCOTREE:PHCH {source="MONDO:equivalentTo"}
is_a: MONDO:0003210 {source="NCIT:C96804"} ! intrahepatic cholangiocarcinoma

[Term]
id: MONDO:0044789
name: digital papillary eccrine carcinoma
def: "An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs." [NCIT:C27534]
synonym: "aggressive digital papillary adenocarcinoma" EXACT [MONDO:0003530]
synonym: "digit papillary eccrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "digital papillary carcinoma" EXACT [NCIT:C27534]
synonym: "digital papillary carcinoma of skin" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "digital papillary eccrine carcinoma" EXACT [NCIT:C27534]
synonym: "papillary digital eccrine carcinoma" EXACT [NCIT:C27534]
synonym: "papillary eccrine carcinoma of digit" EXACT [MONDO:design_pattern]
xref: DOID:5590 {source="MONDO:equivalentTo"}
xref: MEDGEN:277955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27534 {source="ONCOTREE:ADPA", source="MONDO:equivalentTo"}
xref: ONCOTREE:ADPA {source="MONDO:equivalentTo"}
xref: UMLS:C1367789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277955"}
is_a: MONDO:0002531 {source="ONCOTREE:ADPA"} ! skin neoplasm
is_a: MONDO:0002656 {source="DOID:5590", source="MONDO:indirect"} ! skin carcinoma
intersection_of: MONDO:0003531 ! papillary eccrine carcinoma
intersection_of: disease_has_location UBERON:0002544 ! digit
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7185" xsd:anyURI

[Term]
id: MONDO:0044790
name: obsolete congenital melanocytic nevus
comment: Obsoleted as was conflated with spitz nevus
is_obsolete: true
replaced_by: MONDO:0044792

[Term]
id: MONDO:0044791
name: combined hepatocellular carcinoma and cholangiocarcinoma
def: "A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor." [NCIT:C3828]
subset: gard_rare {source="GARD:22200", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:529852"}
subset: orphanet_rare {source="Orphanet:529852"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoma of liver and intrahepatic biliary tract" BROAD [NCIT:C3828]
synonym: "carcinoma of the liver and intrahepatic biliary tract" EXACT [NCIT:C3828]
synonym: "Cholangiohepatoma" EXACT [NCIT:C3828]
synonym: "combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)" EXACT [NCIT:C3828]
synonym: "combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C3828]
synonym: "combined hepatocellular carcinoma and cholangiocarcinoma" EXACT [NCIT:C3828]
synonym: "Hepatocholangiocarcinoma" EXACT [NCIT:C3828]
synonym: "liver and intrahepatic biliary tract carcinoma" BROAD [NCIT:C3828]
synonym: "Mixed hepatocellular cholangiocarcinoma" EXACT [NCIT:C3828]
xref: GARD:22200 {source="MONDO:GARD"}
xref: icd11.foundation:1097637010 {source="MONDO:equivalentTo", source="Orphanet:529852", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:113160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3828 {source="MONDO:equivalentTo"}
xref: Orphanet:529852 {source="MONDO:equivalentTo"}
xref: SCTID:274902006 {source="MONDO:equivalentTo"}
xref: UMLS:C0221287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113160"}
is_a: MONDO:0004970 {source="NCIT:C3828"} ! adenocarcinoma
is_a: MONDO:0018531 {source="NCIT:C3828", source="Orphanet:529852"} ! carcinoma of liver and intrahepatic biliary tract
is_a: MONDO:0018918 {source="Orphanet:529852"} ! carcinoma of gallbladder and extrahepatic biliary tract

[Term]
id: MONDO:0044792
name: large congenital melanocytic nevus
def: "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." [Orphanet:626]
subset: gard_rare {source="GARD:2469", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1184", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:626"}
subset: orphanet_rare {source="Orphanet:626"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "bathing trunk nevus" EXACT [GARD:0002469, NCIT:C4234]
synonym: "CMNS" RELATED ABBREVIATION [OMIM:137550]
synonym: "congenital giant pigmented nevus" RELATED [GARD:0002469]
synonym: "congenital hairy nevus" RELATED [GARD:0002469]
synonym: "congenital melanocytic nevi" EXACT [NCIT:C3944]
synonym: "congenital melanocytic nevus" EXACT [NCIT:C3944]
synonym: "congenital melanocytic nevus of skin" EXACT [NCIT:C3944]
synonym: "congenital melanocytic nevus of the skin" EXACT [NCIT:C3944]
synonym: "congenital nevus" RELATED [ONCOTREE:SKCN]
synonym: "congenital nevus of skin" EXACT [NCIT:C3944]
synonym: "congenital nevus of the skin" EXACT [NCIT:C3944]
synonym: "congenital pigmented melanocytic Nevus" EXACT [NCIT:C3944]
synonym: "congenital pigmented nevus" EXACT [Orphanet:626]
synonym: "congenital pigmented nevus of skin" EXACT [NCIT:C3944]
synonym: "congenital pigmented nevus of the skin" EXACT [NCIT:C3944]
synonym: "congenital pigmented skin nevus" EXACT [NCIT:C3944]
synonym: "congenital skin nevus" EXACT [NCIT:C3944]
synonym: "Giant Congenital Melanocytic Nevus" EXACT [NORD:1184]
synonym: "giant congenital melanocytic nevus" RELATED [GARD:0002469, Orphanet:626]
synonym: "giant congenital nevus" EXACT [NCIT:C4234]
synonym: "giant congenital pigmented Nevus" RELATED [OMIM:137550]
synonym: "giant hairy nevus" RELATED [GARD:0002469]
synonym: "giant pigmented hairy nevus" EXACT [GARD:0002469, OMIM:137550, Orphanet:626]
synonym: "giant pigmented nevus" RELATED [GARD:0002469]
synonym: "giant pigmented nevus of skin" EXACT [NCIT:C4234]
synonym: "giant pigmented nevus of the skin" EXACT [NCIT:C4234]
synonym: "GMN" EXACT ABBREVIATION [Orphanet:626]
synonym: "GPHN" RELATED ABBREVIATION [GARD:0002469]
synonym: "large congenital melanocytic nevus" EXACT [GARD:0002469]
synonym: "LCMN" EXACT ABBREVIATION [Orphanet:626]
synonym: "melanocytic nevus syndrome, congenital" RELATED [OMIM:137550]
synonym: "melanocytic nevus syndrome, congenital, somatic" EXACT [OMIM:137550, OMIM:genemap2]
synonym: "nevus spilus" RELATED [OMIM:137550]
synonym: "pigmented moles" RELATED [OMIM:137550]
synonym: "spitz nevus" RELATED [OMIM:137550]
synonym: "spitz nevus or nevus spilus, somatic" EXACT [OMIM:137550, OMIM:genemap2]
xref: DOID:0111359 {source="MONDO:equivalentTo"}
xref: GARD:2469 {source="MONDO:GARD"}
xref: ICD10CM:Q82.5 {source="Orphanet:626", source="Orphanet:626/attributed", source="Orphanet:626/ntbt"}
xref: icd11.foundation:618273329 {source="MONDO:equivalentTo", source="Orphanet:626", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICDO:8761/1 {source="NCIT:C4234"}
xref: MedDRA:10072036 {source="Orphanet:626", source="Orphanet:626/e"}
xref: MEDGEN:330752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3944 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C4234 {source="MONDO:equivalentTo"}
xref: NORD:1184 {source="MONDO:NORD"}
xref: OMIM:137550 {source="MONDO:equivalentTo", source="GARD:0002469", source="Orphanet:626"}
xref: ONCOTREE:SKCN {source="MONDO:equivalentTo"}
xref: Orphanet:626 {source="OMIM:137550", source="MONDO:equivalentTo", source="GARD:0002469"}
xref: SCTID:254815002 {source="MONDO:equivalentTo"}
xref: SCTID:398696001 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: UMLS:C1842036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330752"}
is_a: MONDO:0005073 {source="MONDO:Redundant", source="NCIT:C3944", source="NCIT:C4234/inferred", source="Orphanet:626", source="https://orcid.org/0000-0002-6601-2165"} ! melanocytic nevus
is_a: MONDO:0021583 {source="NCIT:C3944"} ! melanocytic skin neoplasm
is_a: MONDO:0100118 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary skin disorder
relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4659" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus" xsd:anyURI {source="GARD:0002469"}

[Term]
id: MONDO:0044793
name: spitz nevus
def: "A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis." [NCIT:C27007]
subset: otar {source="MONDO:OTAR"}
synonym: "benign juvenile melanoma" EXACT [NCIT:C27007]
synonym: "juvenile nevus" EXACT [NCIT:C27007]
synonym: "spindle and/ or epithelioid cell Nevus" EXACT [NCIT:C27007]
synonym: "spitz naevus" RELATED [GARD:0010412]
synonym: "spitz nevi" RELATED [GARD:0010412]
synonym: "spitz nevus" EXACT [NCIT:C27007]
xref: ICDO:8770/0 {source="NCIT:C27007"}
xref: MEDGEN:61671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27007 {source="MONDO:equivalentTo"}
xref: UMLS:C0206739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61671"}
is_a: MONDO:0044794 {source="NCIT:C27007"} ! benign melanocytic skin nevus

[Term]
id: MONDO:0044794
name: benign melanocytic skin nevus
def: "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus." [NCIT:C7571]
comment: Editor note: TODO logical def
subset: otar {source="MONDO:OTAR"}
synonym: "benign melanocytic nevus" EXACT [NCIT:C7571]
synonym: "benign melanocytic nevus of skin" EXACT [NCIT:C7571]
synonym: "benign melanocytic nevus of the skin" EXACT [NCIT:C7571]
synonym: "benign melanocytic skin nevus" EXACT [NCIT:C7571]
synonym: "benign mole" EXACT [NCIT:C7571]
synonym: "benign nevus of skin" EXACT [NCIT:C7571]
synonym: "benign nevus of the skin" EXACT [NCIT:C7571]
synonym: "benign skin nevus" EXACT [NCIT:C7571]
xref: MEDGEN:264151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7571 {source="MONDO:equivalentTo"}
xref: UMLS:C1456781 {source="MEDGEN:264151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005073 {source="NCIT:C7571"} ! melanocytic nevus
is_a: MONDO:0021583 {source="NCIT:C7571"} ! melanocytic skin neoplasm

[Term]
id: MONDO:0044795
name: epithelioid cell nevus
def: "A nevus characterized by the presence of large epithelioid melanocytes." [NCIT:C66757]
synonym: "epithelioid cell nevus" EXACT [NCIT:C66757]
xref: MEDGEN:75480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C66757 {source="MONDO:equivalentTo"}
xref: UMLS:C0259820 {source="MEDGEN:75480", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044793 {source="NCIT:C66757"} ! spitz nevus

[Term]
id: MONDO:0044796
name: spindle cell nevus
def: "A nevus characterized by the presence of spindle-shaped melanocytes." [NCIT:C66758]
synonym: "spindle cell nevus" EXACT [NCIT:C66758]
xref: MEDGEN:60220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C66758 {source="MONDO:equivalentTo"}
xref: SCTID:253038006 {source="MONDO:equivalentTo"}
xref: UMLS:C0206738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60220"}
is_a: MONDO:0044793 {source="NCIT:C66758"} ! spitz nevus
intersection_of: MONDO:0044793 ! spitz nevus
intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell
relationship: disease_has_feature NCIT:C36869 ! Spindle Melanocyte

[Term]
id: MONDO:0044797
name: desmoplastic nevus
def: "A benign melanocytic nevus characterized by the presence of desmoplastic stroma." [NCIT:C4497]
synonym: "Desmoplastic Nevus" EXACT [NCIT:C4497]
xref: MEDGEN:91083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4497 {source="MONDO:equivalentTo"}
xref: UMLS:C0346098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91083"}
is_a: MONDO:0044794 {source="NCIT:C4497"} ! benign melanocytic skin nevus

[Term]
id: MONDO:0044800
name: desmoplastic spitz nevus
def: "A Spitz nevus associated with fibrous stroma formation." [NCIT:C82864]
synonym: "Desmoplastic spitz Nevus" EXACT [NCIT:C82864]
xref: MEDGEN:266159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C82864 {source="MONDO:equivalentTo"}
xref: SCTID:400022009 {source="MONDO:equivalentTo"}
xref: UMLS:C1275419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266159"}
is_a: MONDO:0044793 {source="MONDO:Redundant", source="NCIT:C82864"} ! spitz nevus
is_a: MONDO:0044797 {source="MONDO:Redundant", source="NCIT:C82864"} ! desmoplastic nevus
intersection_of: MONDO:0044793 {source="NCIT:C82864"} ! spitz nevus
intersection_of: MONDO:0044797 {source="NCIT:C82864"} ! desmoplastic nevus

[Term]
id: MONDO:0044807
name: inherited dystonia
def: "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:21630", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:391799"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial dystonia" EXACT [NCIT:C35527]
synonym: "hereditary dystonic disorder" EXACT [MONDO:patterns/hereditary]
synonym: "rare genetic dystonia" EXACT [MONDO:0018331]
synonym: "rare genetic dystonic disorder" EXACT [Orphanet:391799]
xref: GARD:21630 {source="MONDO:GARD"}
xref: MEDGEN:1842468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200511 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C35527 {source="MONDO:equivalentTo"}
xref: OMIMPS:128100 {source="MONDO:equivalentTo"}
xref: Orphanet:391799 {source="MONDO:equivalentTo"}
xref: UMLS:C5680022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842468"}
is_a: MONDO:0003441 {source="NCIT:C35527"} ! dystonic disorder
is_a: MONDO:0005395 {source="Orphanet:391799"} ! movement disorder
intersection_of: MONDO:0003441 ! dystonic disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015957"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:128100"} ! inherited

[Term]
id: MONDO:0044808
name: obsolete early onset primary dystonia
xref: NANDO:1200512 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2809" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007492

[Term]
id: MONDO:0044811
name: idiopathic torsion dystonia
def: "Torsion dystonia for which no underlying cause has been identified." [NCIT:C34564]
synonym: "dystonia deformans progressiva" RELATED []
synonym: "dystonia musculorum deformans" RELATED []
synonym: "Idiopathic torsion dystonia" EXACT [NCIT:C34564]
synonym: "idiopathic torsion dystonia" EXACT []
synonym: "primary torsion dystonia" EXACT []
synonym: "Schwalbe disease" RELATED []
synonym: "Ziehen-oppenheim disease" RELATED []
xref: ICD9:333.6
xref: NCIT:C34564 {source="MONDO:equivalentTo"}
xref: SCTID:22451001 {source="MONDO:equivalentTo"}
is_a: MONDO:0003441 {source="NCIT:C34564"} ! dystonic disorder
relationship: has_characteristic MONDO:0700005 ! idiopathic

[Term]
id: MONDO:0044816
name: familial idiopathic torsion dystonia
def: "An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "familial Idiopathic dystonia" EXACT [NCIT:C35437]
synonym: "genetic torsion dystonia" RELATED []
synonym: "hereditary idiopathic torsion dystonia" EXACT [MONDO:patterns/hereditary]
synonym: "idiopathic familial dystonia" EXACT []
xref: MEDGEN:95980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35437 {source="MONDO:equivalentTo"}
xref: SCTID:230318005 {source="MONDO:equivalentTo"}
xref: UMLS:C0393598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:95980"}
is_a: MONDO:0044807 {source="MONDO:Redundant", source="NCIT:C35437"} ! inherited dystonia
is_a: MONDO:0044811 {source="MONDO:Redundant", source="NCIT:C35437"} ! idiopathic torsion dystonia
intersection_of: MONDO:0044811 ! idiopathic torsion dystonia
intersection_of: has_characteristic MONDO:0021152 ! inherited

[Term]
id: MONDO:0044817
name: acquired idiopathic torsion dystonia
def: "An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired idiopathic torsion dystonia" EXACT [MONDO:patterns/acquired]
synonym: "idiopathic non-familial dystonia" EXACT []
synonym: "non-Familial Idiopathic dystonia" EXACT [NCIT:C35438]
xref: MEDGEN:98279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C35438 {source="MONDO:equivalentTo"}
xref: SCTID:230321007 {source="MONDO:equivalentTo"}
xref: UMLS:C0393601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98279"}
is_a: MONDO:0044811 {source="MONDO:Redundant", source="NCIT:C35438"} ! idiopathic torsion dystonia
intersection_of: MONDO:0044811 ! idiopathic torsion dystonia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0044843
name: torsion dystonia
synonym: "torsion dystonia" EXACT []
xref: MEDGEN:3941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:431034009 {source="MONDO:equivalentTo"}
xref: UMLS:C0013423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3941"}
is_a: MONDO:0003441 ! dystonic disorder

[Term]
id: MONDO:0044870
name: acquired torsion dystonia
def: "An instance of torsion dystonia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
synonym: "acquired torsion dystonia" EXACT [MONDO:patterns/acquired]
xref: MEDGEN:739598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:433493000 {source="MONDO:equivalentTo"}
xref: UMLS:C1719382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:739598"}
intersection_of: MONDO:0044843 ! torsion dystonia
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0044871
name: dystonia, focal, task-specific
subset: gard_rare {source="GARD:6458", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dystonia, focal, task-specific" EXACT [MONDO:Lexical, OMIM:611284]
synonym: "focal hand dystonia" RELATED [MESH:C566973, Wikipedia:Dystonia#Generalized_dystonias]
synonym: "focal task-specific dystonia" RELATED [MESH:C566973]
synonym: "FTSD" EXACT ABBREVIATION [MESH:C566973, MONDO:Lexical, OMIM:611284]
synonym: "musician's cramp" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "musician's dystonia" RELATED [MESH:C566973, OMIM:611284]
synonym: "occupational cramp" RELATED [MESH:C566973]
synonym: "occupational dystonia" RELATED [MESH:C566973]
synonym: "task-specific dystonia" RELATED [MESH:C566973]
synonym: "task-specific focal dystonia" RELATED [MESH:C566973]
xref: GARD:6458 {source="MONDO:GARD"}
xref: MEDGEN:370752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566973 {source="MONDO:equivalentTo"}
xref: OMIM:611284 {source="MONDO:equivalentTo"}
xref: SCTID:230330004 {source="MONDO:equivalentTo"}
xref: UMLS:C1969807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370752"}
is_a: MONDO:0000477 {source="OMIM:611284", source="Wikipedia:Dystonia", source="https://orcid.org/0000-0001-5208-3432"} ! focal dystonia
is_a: MONDO:0003847 {source="OMIM:611284"} ! hereditary disease
is_a: MONDO:0044807 {source="MESH:C566973"} ! inherited dystonia

[Term]
id: MONDO:0044872
name: dysautonomia
def: "An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis." [NCIT:C53439]
synonym: "dysautonomia" EXACT [NCIT:C53439]
xref: MEDGEN:8511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C53439 {source="MONDO:equivalentTo"}
xref: UMLS:C0013363 {source="MEDGEN:8511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001292 ! autonomic nervous system disorder

[Term]
id: MONDO:0044873
name: childhood myelodysplastic syndrome
def: "An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults." [NCIT:C68744]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "childhood MDS" EXACT [NCIT:C68744]
synonym: "childhood myelodysplastic syndrome" EXACT [NCIT:C68744]
synonym: "myelodysplastic syndrome" BROAD [NCIT:C68744]
xref: MEDGEN:389541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100003 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200019 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C68744 {source="MONDO:equivalentTo"}
xref: UMLS:C2347761 {source="MEDGEN:389541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018881 {source="NCIT:C68744"} ! myelodysplastic syndrome

[Term]
id: MONDO:0044874
name: refractory cytopenia of childhood
def: "The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood." [NCIT:C82596]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RCC" EXACT ABBREVIATION [NCIT:C82596]
synonym: "refractory cytopenia of childhood" EXACT [NCIT:C82596]
xref: MEDGEN:417430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C82596 {source="MONDO:equivalentTo"}
xref: ONCOTREE:RCYC {source="MONDO:equivalentTo"}
xref: UMLS:C2826323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:417430"}
is_a: MONDO:0018881 {source="NCIT:C82596/inferred", source="ONCOTREE:RCYC"} ! myelodysplastic syndrome
is_a: MONDO:0044873 {source="NCIT:C82596"} ! childhood myelodysplastic syndrome
relationship: has_characteristic HP:0031375 ! Refractory

[Term]
id: MONDO:0044875
name: coronary microvascular disorder
def: "A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom." [NCIT:C84478]
synonym: "CMD" EXACT ABBREVIATION [NCIT:C84478]
synonym: "coronary microvascular disease" EXACT [NCIT:C84478]
synonym: "heart disease of microvascular endothelium" EXACT []
synonym: "microvascular endothelium heart disease" EXACT [MONDO:patterns/location]
xref: MEDGEN:104771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84478 {source="MONDO:equivalentTo"}
xref: UMLS:C0206064 {source="MEDGEN:104771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005267 ! heart disorder
intersection_of: disease_has_location UBERON:0008339 ! microvascular endothelium

[Term]
id: MONDO:0044876
name: obsolete drug hypersensitivity syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7182" xsd:string
is_obsolete: true
replaced_by: MONDO:0015340

[Term]
id: MONDO:0044877
name: paraneoplastic cerebellar degeneration
def: "A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus." [NCIT:C4685]
subset: gard_rare {source="GARD:22493", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:623626"}
subset: orphanet_rare {source="Orphanet:623626"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "paraneoplastic cerebellar degeneration" EXACT [NCIT:C4685]
xref: GARD:22493 {source="MONDO:GARD"}
xref: MEDGEN:98273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020362 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C4685 {source="MONDO:equivalentTo"}
xref: Orphanet:623626 {source="MONDO:equivalentTo"}
xref: UMLS:C0393534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98273"}
is_a: MONDO:0018215 {source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic neurologic syndrome
is_a: MONDO:0021073 {source="NCIT:C4685"} ! paraneoplastic syndrome
is_a: MONDO:0022687 {source="MONDO:Redundant", source="NCIT:C4685"} ! cerebellar degeneration
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: MONDO:0022687 ! cerebellar degeneration

[Term]
id: MONDO:0044878
name: adult germ cell tumor
def: "A germ cell tumor that occurs during adulthood." [NCIT:C114777]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Adult germ cell tumor" EXACT [NCIT:C114777]
synonym: "Adult germ cell tumour" EXACT OMO:0003005 []
synonym: "germ cell tumor" BROAD [NCIT:C114777]
synonym: "germ cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult]
synonym: "germ cell tumour" BROAD OMO:0003005 []
synonym: "germ cell tumour of adults" EXACT OMO:0003005 []
xref: MEDGEN:859695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114777 {source="MONDO:equivalentTo"}
xref: UMLS:C3900101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:859695"}
is_a: MONDO:0005040 {source="MONDO:Redundant", source="NCIT:C114777"} ! germ cell tumor
intersection_of: MONDO:0005040 ! germ cell tumor
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0044879
name: pancreatic mucinous-cystic neoplasm
def: "A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation." [NCIT:C41247]
synonym: "mucinous cystic neoplasm" RELATED [ONCOTREE:MCN]
synonym: "Pancreatic mucinous cystic neoplasm" EXACT [NCIT:C41247]
synonym: "Pancreatic mucinous-cystic neoplasm" EXACT [NCIT:C41247]
xref: MEDGEN:274120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C41247 {source="MONDO:equivalentTo", source="ONCOTREE:MCN"}
xref: ONCOTREE:MCN {source="MONDO:equivalentTo"}
xref: UMLS:C1518872 {source="MEDGEN:274120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021076 {source="NCIT:C41247"} ! pancreatic exocrine neoplasm
is_a: MONDO:0024338 {source="MONDO:Redundant", source="NCIT:C41247"} ! mucinous neoplasm
is_a: MONDO:0044880 {source="MONDO:Redundant", source="ONCOTREE:MCN"} ! cystic tumor of the pancreas
intersection_of: MONDO:0024338 ! mucinous neoplasm
intersection_of: MONDO:0044880 ! cystic tumor of the pancreas

[Term]
id: MONDO:0044880
name: cystic tumor of the pancreas
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
xref: NCIT:C41247 {source="ONCOTREE:PACT"}
xref: ONCOTREE:PACT {source="MONDO:equivalentTo"}
is_a: MONDO:0021076 ! pancreatic exocrine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0044881
name: hematopoietic and lymphoid cell neoplasm
def: "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes." [NCIT:C27134]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "haematological neoplasm" EXACT OMO:0003005 []
synonym: "haematological tumour" EXACT OMO:0003005 []
synonym: "haematopoietic and lymphoid neoplasms" EXACT OMO:0003005 []
synonym: "haematopoietic cancer" EXACT OMO:0003005 []
synonym: "haematopoietic cell tumour" EXACT OMO:0003005 []
synonym: "haematopoietic malignancy, NOS" EXACT OMO:0003005 []
synonym: "haematopoietic neoplasm" EXACT OMO:0003005 []
synonym: "haematopoietic neoplasms including lymphomas" EXACT OMO:0003005 []
synonym: "haematopoietic tumour" EXACT OMO:0003005 []
synonym: "hematologic cancer" EXACT [NCIT:C27134]
synonym: "hematologic malignancy" EXACT [NCIT:C27134]
synonym: "hematologic neoplasm" EXACT [NCIT:C27134]
synonym: "hematological neoplasm" EXACT [NCIT:C27134]
synonym: "hematological tumor" EXACT [NCIT:C27134]
synonym: "hematopoietic and lymphoid cell neoplasm" EXACT [NCIT:C27134]
synonym: "hematopoietic and lymphoid neoplasms" EXACT [NCIT:C27134]
synonym: "hematopoietic cancer" EXACT [NCIT:C27134]
synonym: "hematopoietic cell tumor" EXACT [NCIT:C27134]
synonym: "hematopoietic malignancy, NOS" EXACT [NCIT:C27134]
synonym: "hematopoietic neoplasm" EXACT [NCIT:C27134]
synonym: "hematopoietic neoplasms including lymphomas" EXACT [NCIT:C27134]
synonym: "hematopoietic tumor" EXACT [NCIT:C27134]
synonym: "hematopoietic, Including myeloma" EXACT [NCIT:C27134]
synonym: "HEMOLYMPHORETICULAR tumor, malignant" EXACT [NCIT:C27134]
synonym: "malignant haematopoietic neoplasm" EXACT OMO:0003005 []
synonym: "malignant hematologic neoplasm" EXACT [NCIT:C27134]
synonym: "malignant hematopoietic neoplasm" EXACT [NCIT:C27134]
xref: ICD10CM:C81-C96 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:91264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27134 {source="MONDO:equivalentTo"}
xref: UMLS:C0376544 {source="MEDGEN:91264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002334 {source="MONDO:Redundant", source="NCIT:C27134"} ! hematopoietic and lymphoid system neoplasm
is_a: MONDO:0005570 {source="NCIT:C27134"} ! hematologic disorder
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_arises_from_structure CL:0000988 ! hematopoietic cell

[Term]
id: MONDO:0044884
name: tonsillar lymphoma
def: "A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas." [NCIT:C5918]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lymphoma of the tonsil" EXACT [NCIT:C5918]
synonym: "lymphoma of tonsil" EXACT [NCIT:C5918]
synonym: "Primary tonsillar lymphoma" EXACT [NCIT:C5918]
synonym: "tonsil lymphoma" EXACT [MONDO:patterns/location, NCIT:C5918]
synonym: "tonsillar lymphoma" EXACT [NCIT:C5918]
xref: MEDGEN:234432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5918 {source="MONDO:equivalentTo"}
xref: UMLS:C1336765 {source="MEDGEN:234432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006998 {source="MONDO:Redundant", source="NCIT:C5918"} ! tonsil cancer
intersection_of: MONDO:0005062 ! lymphoma
intersection_of: disease_has_location UBERON:0002372 ! tonsil

[Term]
id: MONDO:0044885
name: tonsillar lipoma
def: "A benign adipose tissue neoplasm of the tonsils." [NCIT:C5989]
synonym: "lipoma of the tonsil" EXACT [NCIT:C5989]
synonym: "lipoma of tonsil" EXACT [NCIT:C5989]
synonym: "tonsil lipoma" EXACT [MONDO:patterns/location, NCIT:C5989]
synonym: "tonsillar lipoma" EXACT [NCIT:C5989]
xref: MEDGEN:234431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5989 {source="MONDO:equivalentTo"}
xref: UMLS:C1336764 {source="MEDGEN:234431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005106 {source="MONDO:Redundant", source="NCIT:C5989"} ! lipoma
is_a: MONDO:0021513 {source="MONDO:Redundant", source="NCIT:C5989"} ! benign neoplasm of tonsil
intersection_of: MONDO:0005106 ! lipoma
intersection_of: disease_has_location UBERON:0002372 ! tonsil

[Term]
id: MONDO:0044887
name: central nervous system non-hodgkin lymphoma
def: "A non-Hodgkin lymphoma that arises from the central nervous system." [NCIT:C114779]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Central nervous system non-Hodgkin lymphoma" EXACT [NCIT:C114779]
synonym: "central nervous system non-Hodgkin lymphoma" EXACT [MONDO:patterns/location]
synonym: "non-Hodgkin lymphoma of central nervous system" EXACT [MONDO:design_pattern]
synonym: "Primary Central nervous system non-Hodgkin lymphoma" EXACT [NCIT:C114779]
xref: MEDGEN:745669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114779 {source="MONDO:equivalentTo"}
xref: SCTID:448254007 {source="MONDO:equivalentTo"}
xref: UMLS:C2213246 {source="MONDO:equivalentTo", source="MEDGEN:745669", source="MONDO:MEDGEN"}
is_a: MONDO:0002571 {source="MONDO:Redundant", source="NCIT:C114779"} ! primary central nervous system lymphoma
is_a: MONDO:0018908 {source="MONDO:Redundant", source="NCIT:C114779"} ! non-Hodgkin lymphoma
intersection_of: MONDO:0018908 ! non-Hodgkin lymphoma
intersection_of: disease_has_location UBERON:0001017 ! central nervous system

[Term]
id: MONDO:0044889
name: high grade B-cell lymphoma
def: "A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements." [NCIT:C138211]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HGBL" EXACT ABBREVIATION [NCIT:C138211]
synonym: "high grade B-cell lymphoma" EXACT [NCIT:C138211]
synonym: "high-grade B-cell lymphoma" EXACT [NCIT:C138211]
xref: MEDGEN:629622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C138211 {source="MONDO:equivalentTo"}
xref: SCTID:277617004 {source="MONDO:equivalentTo"}
xref: UMLS:C0456863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:629622"}
is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C138211"} ! diffuse large B-cell lymphoma
intersection_of: MONDO:0018905 {source="NCIT:C138211"} ! diffuse large B-cell lymphoma
intersection_of: has_characteristic MONDO:0024497 {source="NCIT:C138211"} ! tumor grade 3 or 4, general grading system
relationship: has_characteristic MONDO:0024497 {source="NCIT:C138211"} ! tumor grade 3 or 4, general grading system

[Term]
id: MONDO:0044903
name: myelofibrosis
def: "A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003" [NCIT:C3248]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myelofibrosis" EXACT [NCIT:C3248]
xref: MEDGEN:10146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100200 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200692 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C3248 {source="MONDO:equivalentTo"}
xref: UMLS:C0026987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10146"}
is_a: MONDO:0003225 {source="NCIT:C3248"} ! bone marrow disorder
is_a: MONDO:0020076 {source="https://orcid.org/0000-0002-1780-9872", source="https://orcid.org/0000-0002-2957-8792", source="https://rarediseases.org/videos/myelofibrosis/", source="https://www.lls.org/myeloproliferative-neoplasms/myelofibrosis", source="https://www.mayoclinic.org/diseases-conditions/myelofibrosis/symptoms-causes/syc-20355057"} ! myeloproliferative neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6776" xsd:anyURI

[Term]
id: MONDO:0044906
name: bladder urothelial papilloma
def: "A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C39858]
synonym: "bladder transitional cell papilloma" EXACT [NCIT:C39858]
synonym: "bladder urothelial papilloma" EXACT [NCIT:C39858]
synonym: "urinary bladder transitional cell papilloma" EXACT [NCIT:C39858]
synonym: "urinary bladder urothelial papilloma" EXACT [NCIT:C39858]
xref: MEDGEN:237227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39858 {source="MONDO:equivalentTo"}
xref: UMLS:C1384678 {source="MONDO:equivalentTo", source="MEDGEN:237227", source="MONDO:MEDGEN"}
is_a: MONDO:0000384 {source="MONDO:Redundant", source="NCIT:C39858"} ! bladder benign neoplasm
is_a: MONDO:0003822 {source="NCIT:C39858"} ! non-invasive bladder papillary urothelial neoplasm
is_a: MONDO:0004041 {source="MONDO:Redundant", source="NCIT:C39858"} ! urothelial papilloma
intersection_of: MONDO:0004041 ! urothelial papilloma
intersection_of: disease_has_location UBERON:0001255 ! urinary bladder

[Term]
id: MONDO:0044907
name: metastatic squamous cell carcinoma
def: "A squamous cell carcinoma which has spread from its original site of growth to another anatomic site." [NCIT:C4104]
synonym: "Metastatic squamous cell carcinoma" EXACT [NCIT:C4104]
xref: MEDGEN:90749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4104 {source="MONDO:equivalentTo"}
xref: SCTID:403906006 {source="MONDO:equivalentTo"}
xref: UMLS:C0334246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90749"}
is_a: MONDO:0005096 {source="MONDO:Redundant", source="NCIT:C4104"} ! squamous cell carcinoma
is_a: MONDO:0024879 {source="NCIT:C4104"} ! metastatic carcinoma
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: has_characteristic PATO:0002098 ! neoplastic, metastatic

[Term]
id: MONDO:0044912
name: metastatic malignant neoplasm in the spinal cord
def: "A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma." [NCIT:C4585]
synonym: "metastasis to spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic malignant neoplasm in the spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic malignant neoplasm to the spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic neoplasm to the spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic tumor to the spinal cord" EXACT [NCIT:C4585]
synonym: "Metastatic tumour to the spinal cord" EXACT OMO:0003005 []
synonym: "Secondary malignant neoplasm to the spinal cord" EXACT [NCIT:C4585]
synonym: "Secondary malignant tumor to the spinal cord" EXACT [NCIT:C4585]
synonym: "Secondary malignant tumour to the spinal cord" EXACT OMO:0003005 []
xref: MEDGEN:138075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4585 {source="MONDO:equivalentTo"}
xref: SCTID:94600009 {source="MONDO:equivalentTo"}
xref: UMLS:C0347016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138075"}
is_a: MONDO:0003544 {source="MONDO:Redundant", source="NCIT:C4585"} ! spinal cord cancer
intersection_of: MONDO:0024880 ! metastatic malignant neoplasm
intersection_of: disease_has_location UBERON:0002240 ! spinal cord

[Term]
id: MONDO:0044913
name: metastatic malignant neoplasm in the eye
def: "A malignant neoplasm that has spread to the eye from another anatomic site." [NCIT:C4586]
synonym: "eye metastasis" EXACT [NCIT:C4586]
synonym: "Metastases to eye" EXACT [NCIT:C4586]
synonym: "Metastases to the eye" EXACT [NCIT:C4586]
synonym: "metastasis to eye" EXACT [NCIT:C4586]
synonym: "metastasis to the eye" EXACT [NCIT:C4586]
synonym: "Metastatic malignant neoplasm in the eye" EXACT [NCIT:C4586]
synonym: "Metastatic malignant neoplasm to the eye" EXACT [NCIT:C4586]
synonym: "Metastatic neoplasm to the eye" EXACT [NCIT:C4586]
synonym: "Metastatic tumor to the eye" EXACT [NCIT:C4586]
synonym: "Metastatic tumour to the eye" EXACT OMO:0003005 []
xref: MEDGEN:91115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4586 {source="MONDO:equivalentTo"}
xref: SCTID:94292003 {source="MONDO:equivalentTo"}
xref: UMLS:C0347019 {source="MONDO:equivalentTo", source="MEDGEN:91115", source="MONDO:MEDGEN"}
is_a: MONDO:0002236 {source="MONDO:Redundant", source="NCIT:C4586"} ! ocular cancer
is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C4586"} ! metastatic malignant neoplasm
intersection_of: MONDO:0024880 ! metastatic malignant neoplasm
intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye

[Term]
id: MONDO:0044915
name: salivary duct carcinoma
def: "An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites." [NCIT:C5904]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of duct of salivary gland" EXACT [MONDO:patterns/carcinoma]
synonym: "carcinoma of salivary duct" EXACT [NCIT:C5904]
synonym: "carcinoma of the salivary duct" EXACT [NCIT:C5904]
synonym: "duct of salivary gland carcinoma" EXACT []
synonym: "high grade salivary duct carcinoma" EXACT [NCIT:C5904]
synonym: "salivary duct carcinoma" EXACT [NCIT:C5904]
xref: MEDGEN:220969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5904 {source="MONDO:equivalentTo"}
xref: ONCOTREE:SDCA {source="MONDO:equivalentTo"}
xref: UMLS:C1301194 {source="MEDGEN:220969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006176 {source="NCIT:C5904"} ! cribriform carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001837 ! duct of salivary gland

[Term]
id: MONDO:0044916
name: extrarenal rhabdoid tumor
def: "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm." [NCIT:C6586]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "extrarenal rhabdoid tumor" EXACT [NCIT:C6586]
synonym: "malignant extrarenal rhabdoid neoplasm" EXACT [NCIT:C6586]
synonym: "rhabdoid tumor of soft tissue" EXACT [NCIT:C6586]
synonym: "rhabdoid tumour of soft tissue" EXACT OMO:0003005 []
xref: MEDGEN:224918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6586 {source="MONDO:equivalentTo"}
xref: SCTID:404089007 {source="MONDO:equivalentTo"}
xref: UMLS:C1304517 {source="MEDGEN:224918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002728 {source="NCIT:C6586"} ! rhabdoid tumor
is_a: MONDO:0006517 {source="NCIT:C6586"} ! childhood malignant neoplasm

[Term]
id: MONDO:0044917
name: T-lymphoblastic lymphoma
def: "The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)" [NCIT:C6919]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Precur. T-lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "precursor T Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "precursor T-cell Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "precursor T-Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "precursor T-lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "T Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "T-Lymphoblastic lymphoma" EXACT [NCIT:C6919]
synonym: "T-lymphoblastic lymphoma" EXACT [NCIT:C6919]
xref: MEDGEN:266232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200023 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C6919 {source="MONDO:equivalentTo"}
xref: SCTID:421246008 {source="MONDO:equivalentTo"}
xref: UMLS:C1292758 {source="MEDGEN:266232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000873 {source="NCIT:C6919"} ! lymphoblastic lymphoma
is_a: MONDO:0003537 {source="NCIT:C6919"} ! precursor T-lymphoblastic lymphoma/leukemia
is_a: MONDO:0015760 {source="NCIT:C6919"} ! T-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0044919
name: malignant renal pelvis neoplasm
def: "A primary or metastatic malignant neoplasm that affects the renal pelvis." [NCIT:C7525]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of renal pelvis" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of renal pelvis" EXACT [MONDO:patterns/cancer, NCIT:C7525]
synonym: "malignant neoplasm of the renal pelvis" EXACT [NCIT:C7525]
synonym: "malignant renal pelvis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7525]
synonym: "malignant renal pelvis tumor" EXACT [NCIT:C7525]
synonym: "malignant renal pelvis tumour" EXACT OMO:0003005 []
synonym: "malignant tumor of renal pelvis" EXACT [NCIT:C7525]
synonym: "malignant tumor of the renal pelvis" EXACT [NCIT:C7525]
synonym: "malignant tumour of renal pelvis" EXACT OMO:0003005 []
synonym: "malignant tumour of the renal pelvis" EXACT OMO:0003005 []
synonym: "renal pelvis cancer" EXACT []
xref: MEDGEN:57793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7525 {source="MONDO:equivalentTo"}
xref: UMLS:C0153618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57793"}
is_a: MONDO:0002367 {source="MONDO:Redundant", source="NCIT:C7525"} ! kidney cancer
is_a: MONDO:0003719 {source="MONDO:Redundant", source="NCIT:C7525"} ! renal pelvis neoplasm
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0001224 ! renal pelvis

[Term]
id: MONDO:0044921
name: atypical lymphoproliferative disorder
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "atypical lymphoid hyperplasia" EXACT [NCIT:C7764]
synonym: "atypical lymphoproliferative disorder" EXACT [NCIT:C7764]
xref: MEDGEN:75775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7764 {source="MONDO:equivalentTo"}
xref: SCTID:20991001 {source="MONDO:equivalentTo"}
xref: UMLS:C0272217 {source="MEDGEN:75775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016537 {source="NCIT:C7764"} ! lymphoproliferative syndrome
is_a: MONDO:0060782 {source="NCIT:C7764"} ! premalignant hematological system disease

[Term]
id: MONDO:0044923
name: acute myeloid leukemia with mutated NPM1
def: "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy." [NCIT:C82431]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acute myeloid leukaemia with cytoplasmic nucleophosmin" EXACT OMO:0003005 []
synonym: "acute myeloid leukemia with cytoplasmic nucleophosmin" EXACT [NCIT:C82431]
synonym: "acute myeloid leukemia with mutated NPM1" EXACT [NCIT:C82431]
synonym: "acute myeloid leukemia, NPM1 gene mutation" EXACT [MONDO:0100411]
synonym: "AML with mutated NPM1" EXACT [NCIT:C82431]
synonym: "AML, Mutation of the Nucleophosmin Gene" EXACT [NCIT:C82429]
synonym: "AML, NPM1 gene mutation" EXACT [NCIT:C82429]
synonym: "AML, NPM1 Mutation" EXACT [NCIT:C82429]
synonym: "AML, Nucleophosmin Gene Mutation" EXACT [NCIT:C82429]
synonym: "NPMc+ AML" EXACT [NCIT:C82431]
xref: DOID:0081089 {source="MONDO:equivalentTo"}
xref: MEDGEN:414842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C82429 {source="MONDO:otherHierarchy"}
xref: NCIT:C82431 {source="MONDO:equivalentTo"}
xref: ONCOTREE:AMLNPM1 {source="MONDO:equivalentTo"}
xref: UMLS:C2826177 {source="MEDGEN:414842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018874 {source="NCIT:C82430", source="NCIT:C82431/inferred", source="ONCOTREE:AMLNPM1/inferred"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3583" xsd:anyURI

[Term]
id: MONDO:0044924
name: obsolete acute myeloid leukemia with mutated CEBPA
comment: NCIT noted acute myeloid leukemia with mutated CEBPA and acute myeloid leukemia with CEBPA somatic mutations are synonyms, they should be merged.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/366" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0017894

[Term]
id: MONDO:0044925
name: oral cavity carcinoma
def: "A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma." [NCIT:C8990]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of mouth" EXACT [NCIT:C8990]
synonym: "carcinoma of oral cavity" EXACT [MONDO:patterns/carcinoma, NCIT:C8990]
synonym: "carcinoma of the oral cavity" EXACT [NCIT:C8990]
synonym: "mouth carcinoma" EXACT [NCIT:C8990]
synonym: "oral cavity cancer" BROAD [NCIT:C8990]
synonym: "oral cavity carcinoma" EXACT [NCIT:C8990]
xref: MEDGEN:57468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8990 {source="MONDO:equivalentTo"}
xref: UMLS:C0151546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57468"}
is_a: MONDO:0005515 {source="MONDO:Redundant", source="NCIT:C8990"} ! oral cavity cancer
is_a: MONDO:0023644 {source="NCIT:C8990"} ! lip and oral cavity carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0000167 ! oral cavity

[Term]
id: MONDO:0044926
name: oropharyngeal carcinoma
def: "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx." [NCIT:C9105]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of oropharynx" BROAD [NCIT:C9105]
synonym: "cancer of the oropharynx" BROAD [NCIT:C9105]
synonym: "carcinoma of oropharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9105]
synonym: "carcinoma of the oropharynx" EXACT [NCIT:C9105]
synonym: "oropharyngeal cancer" BROAD [NCIT:C9105]
synonym: "oropharyngeal carcinoma" EXACT [NCIT:C9105]
synonym: "oropharyngeal throat cancer" BROAD [NCIT:C9105]
synonym: "oropharynx carcinoma" EXACT [NCIT:C9105]
xref: MEDGEN:379086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9105 {source="MONDO:equivalentTo"}
xref: UMLS:C2349952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:379086"}
is_a: MONDO:0004608 {source="MONDO:Redundant", source="NCIT:C9105"} ! oropharynx cancer
is_a: MONDO:0021345 {source="MONDO:Redundant", source="NCIT:C9105"} ! carcinoma of pharynx
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001729 ! oropharynx

[Term]
id: MONDO:0044937
name: rectal carcinoma
def: "A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." [NCIT:C9382]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer of rectum" BROAD [NCIT:C9382]
synonym: "cancer of the rectum" BROAD [NCIT:C9382]
synonym: "carcinoma of rectum" EXACT [MONDO:patterns/carcinoma, NCIT:C9382]
synonym: "carcinoma of the rectum" EXACT [NCIT:C9382]
synonym: "rectal cancer" BROAD [NCIT:C9382]
synonym: "rectal carcinoma" EXACT [NCIT:C9382]
synonym: "rectum carcinoma" EXACT []
xref: MEDGEN:40100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C9382 {source="MONDO:equivalentTo"}
xref: UMLS:C0007113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40100"}
is_a: MONDO:0006519 {source="MONDO:Redundant", source="NCIT:C9382"} ! rectal cancer
is_a: MONDO:0024331 {source="MONDO:Redundant", source="NCIT:C9382"} ! colorectal carcinoma
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0044956
name: paranasal sinus mucoepidermoid carcinoma
def: "A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type." [NCIT:C6018]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "accessory sinus mucoepidermoid carcinoma" EXACT [NCIT:C6018]
synonym: "mucoepidermoid carcinoma of accessory sinus" EXACT [NCIT:C6018]
synonym: "mucoepidermoid carcinoma of paranasal sinus" EXACT [NCIT:C6018]
synonym: "mucoepidermoid carcinoma of the accessory sinus" EXACT [NCIT:C6018]
synonym: "mucoepidermoid carcinoma of the paranasal sinus" EXACT [NCIT:C6018]
synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT [NCIT:C6018]
xref: MEDGEN:235461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6018 {source="MONDO:equivalentTo"}
xref: UMLS:C1335340 {source="MEDGEN:235461", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000380 {source="MONDO:Redundant", source="NCIT:C6018"} ! paranasal sinus carcinoma
is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C6018"} ! mucoepidermoid carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus

[Term]
id: MONDO:0044964
name: oral cavity mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination." [NCIT:C8177]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "mucoepidermoid carcinoma of oral cavity" EXACT [NCIT:C8177]
synonym: "mucoepidermoid carcinoma of the oral cavity" EXACT [NCIT:C8177]
synonym: "oral cavity mucoepidermoid cancer" EXACT [NCIT:C8177]
synonym: "oral cavity mucoepidermoid carcinoma" EXACT [NCIT:C8177]
xref: MEDGEN:83629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8177 {source="MONDO:equivalentTo"}
xref: UMLS:C0280309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83629"}
is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C8177"} ! mucoepidermoid carcinoma
is_a: MONDO:0044925 {source="MONDO:Redundant", source="NCIT:C8177"} ! oral cavity carcinoma
intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma
intersection_of: disease_has_location UBERON:0000167 ! oral cavity

[Term]
id: MONDO:0044965
name: obsolete abdominal and pelvic region disorder
def: "OBSOLETE. A disease or disorder that involves the abdominal segment of trunk." [MONDO:design_pattern]
comment: Reason: grouping class. Term to consider: none
synonym: "abdominal segment of trunk disease" EXACT [MONDO:design_pattern]
synonym: "abdominal segment of trunk disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "disease of abdominal segment of trunk" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of abdominal segment of trunk" EXACT []
synonym: "disorder of abdominal segment of trunk" EXACT [MONDO:patterns/location_top]
xref: SCTID:609618002 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4111" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044967
name: obsolete limb disorder
def: "OBSOLETE. A disease or disorder that involves the limb." [MONDO:design_pattern]
comment: Reason: grouping class. Term to consider: none
synonym: "disease of limb" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of limb" EXACT []
synonym: "disorder of extremity" EXACT []
synonym: "disorder of limb" EXACT [MONDO:patterns/location_top]
synonym: "limb disease" EXACT [MONDO:design_pattern]
synonym: "limb disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: ICD9:V49.1
xref: SCTID:128605003 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4111" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044969
name: obsolete disease of membrane bound organelle
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044970
name: mitochondrial disease
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
xref: MEDGEN:155901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200173 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2100163 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: UMLS:C0751651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155901"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005739 ! mitochondrion
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial" xsd:anyURI

[Term]
id: MONDO:0044971
name: obsolete disease of macromolecular complex
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044972
name: eosinophil disorder
def: "A disease or disorder that involves the eosinophil." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disease of eosinophil" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of eosinophil" EXACT []
synonym: "disorder of eosinophil" EXACT [MONDO:patterns/location_top]
synonym: "eosinophil disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:739396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:417967008 {source="MONDO:equivalentTo"}
xref: UMLS:C1691020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:739396"}
is_a: MONDO:0004805 {source="MONDO:Redundant"} ! leukocyte disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location CL:0000771 ! eosinophil

[Term]
id: MONDO:0044974
name: obsolete disease of supramolecular complex
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044975
name: obsolete disease of transporter activity
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044976
name: obsolete disease of catalytic activity
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
synonym: "enzyme disorder" EXACT []
synonym: "enzymopathy" EXACT []
xref: SCTID:78548001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044977
name: obsolete disease of receptor activity
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044978
name: obsolete disease of cell nucleus
comment: Reason: grouping class. Term to consider: none
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4111" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044979
name: obsolete disease by cell type
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
subset: metaclass
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044980
name: obsolete disease of signal transduction
comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed.
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3661" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044981
name: pseudoallergy
synonym: "non-allergic hypersensitivity to substance" EXACT [SCTID:609397002, UMLS:C3662273]
synonym: "pseudoallergy to substance" EXACT []
xref: ICD9:V15.09
xref: SCTID:609397002 {source="MONDO:equivalentTo"}
is_a: MONDO:0000605 ! hypersensitivity reaction disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6936" xsd:anyURI

[Term]
id: MONDO:0044982
name: drug pseudoallergy
synonym: "drug allergy" RELATED [UMLS:C3662272]
synonym: "drug pseudoallergy" EXACT [UMLS:C3662272]
xref: MEDGEN:783426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:609398007 {source="UMLS:C3662272", source="MONDO:equivalentTo"}
xref: UMLS:C3662272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:783426"}
intersection_of: MONDO:0044981 ! pseudoallergy
intersection_of: realized_in_response_to ECTO:0000509 ! exposure to drug

[Term]
id: MONDO:0044983
name: benign lipomatous neoplasm
def: "A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma." [NCIT:C4502]
subset: otar {source="MONDO:OTAR"}
synonym: "adipose tissue benign connective and soft tissue neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "benign adipose tissue neoplasm" EXACT [NCIT:C4502]
synonym: "benign adipose tissue tumor" EXACT [NCIT:C4502]
synonym: "benign adipose tissue tumour" EXACT OMO:0003005 []
synonym: "benign connective and soft tissue neoplasm of adipose tissue" EXACT [MONDO:design_pattern]
synonym: "benign lipomatous neoplasm" EXACT [NCIT:C4502]
synonym: "benign lipomatous tumor" EXACT [NCIT:C4502]
synonym: "benign lipomatous tumour" EXACT OMO:0003005 []
synonym: "benign neoplasm of adipose tissue" EXACT [NCIT:C4502]
synonym: "benign neoplasm of the adipose tissue" EXACT [NCIT:C4502]
synonym: "benign tumor of adipose tissue" RELATED [NCIT:C4502]
synonym: "benign tumor of the adipose tissue" EXACT [NCIT:C4502]
synonym: "benign tumour of adipose tissue" RELATED OMO:0003005 []
synonym: "benign tumour of the adipose tissue" EXACT OMO:0003005 []
xref: MEDGEN:91084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4502 {source="MONDO:equivalentTo"}
xref: UMLS:C0346118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91084"}
is_a: MONDO:0000654 {source="MONDO:Redundant", source="NCIT:C4502"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C4502"} ! tumor of adipose tissue
intersection_of: MONDO:0000654 ! benign connective and soft tissue neoplasm
intersection_of: disease_has_location UBERON:0001013 ! adipose tissue

[Term]
id: MONDO:0044984
name: nasolacrimal duct disorder
def: "A disease or disorder that involves the nasolacrimal duct." [MONDO:patterns/location]
synonym: "disease of nasolacrimal duct" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nasolacrimal duct" EXACT []
synonym: "disorder of nasolacrimal duct" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "nasolacrimal duct disease" EXACT [MONDO:design_pattern]
synonym: "nasolacrimal duct disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:636806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95767006 {source="MONDO:equivalentTo"}
xref: UMLS:C0521744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:636806"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002392 ! nasolacrimal duct

[Term]
id: MONDO:0044986
name: lymphoid system disorder
def: "A disease or disorder that involves the lymphoid system." [MONDO:patterns/location]
synonym: "disease of lymphoid system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of lymphoid system" EXACT []
synonym: "disorder of lymphoid system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "lymphoid system disease" EXACT [MONDO:design_pattern]
synonym: "lymphoid system disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:9829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:111590001 {source="MONDO:equivalentTo"}
xref: UMLS:C0024228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9829"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0002465 ! lymphoid system

[Term]
id: MONDO:0044987
name: obsolete face disorder
def: "OBSOLETE. A disease or disorder that involves the face." [MONDO:patterns/location]
comment: Reason: grouping class. Term to consider: none
synonym: "disease of face" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of face" EXACT []
synonym: "disorder of face" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "face disease" EXACT [MONDO:design_pattern]
synonym: "face disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:118930001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4968" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044988
name: obsolete hip region disorder
def: "OBSOLETE. A disease or disorder that involves the hip." [MONDO:design_pattern]
comment: Reason: grouping class. Term to consider: none
synonym: "disease of hip" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of hip" EXACT []
synonym: "disorder of hip" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of hip region" EXACT [MONDO:design_pattern]
synonym: "hip disease" EXACT [MONDO:design_pattern]
synonym: "hip disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: SCTID:118935006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4111" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044989
name: obsolete foot disorder
def: "OBSOLETE. A disease or disorder that involves the pes." [MONDO:patterns/location]
comment: Reason: grouping class specific to autosomal disorder. Term to consider: none.
synonym: "disease of pes" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of pes" EXACT []
synonym: "disorder of foot" EXACT [MONDO:design_pattern]
synonym: "disorder of pes" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "foot disease" EXACT [MONDO:design_pattern]
synonym: "pes disease" EXACT []
synonym: "pes disease or disorder" EXACT [MONDO:patterns/location]
xref: MESH:D005534 {source="MONDO:obsoleteEquivalent"}
xref: SCTID:118932009 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4621" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044990
name: obsolete hand disorder
def: "OBSOLETE. A disease or disorder that involves the manus." [MONDO:patterns/location]
comment: Reason: grouping class specific to autosomal disorder. Term to consider: none.
synonym: "disease of manus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of manus" EXACT []
synonym: "disorder of hand" EXACT [MONDO:design_pattern]
synonym: "disorder of manus" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "hand disease" EXACT [MONDO:design_pattern]
synonym: "manus disease" EXACT []
synonym: "manus disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:118933004 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4621" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044991
name: upper digestive tract disorder
def: "A disease or disorder that involves the upper digestive tract." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of upper digestive tract" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of upper digestive tract" EXACT []
synonym: "disorder of upper digestive tract" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of upper gastrointestinal tract" EXACT [MONDO:design_pattern]
synonym: "upper digestive tract disease or disorder" EXACT [MONDO:patterns/location]
synonym: "upper gastrointestinal tract disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:712971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:119291004 {source="MONDO:equivalentTo"}
xref: UMLS:C1290613 {source="MEDGEN:712971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0004908 ! upper digestive tract

[Term]
id: MONDO:0044992
name: mouth mucosa disorder
def: "A disease or disorder that involves the mouth mucosa." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of mouth mucosa" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of mouth mucosa" EXACT []
synonym: "disorder of mouth mucosa" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of oral mucous membrane" EXACT [MONDO:design_pattern]
synonym: "mouth mucosa disease or disorder" EXACT [MONDO:patterns/location]
synonym: "oral mucous membrane disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:712457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:128046007 {source="MONDO:equivalentTo"}
xref: UMLS:C1290071 {source="MEDGEN:712457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_has_location UBERON:0003729 ! mouth mucosa

[Term]
id: MONDO:0044993
name: sympathetic nervous system disorder
def: "A disease or disorder that involves the sympathetic nervous system." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of sympathetic nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of sympathetic nervous system" EXACT []
synonym: "disorder of sympathetic nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "sympathetic nervous system disease" EXACT [MONDO:design_pattern]
synonym: "sympathetic nervous system disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:148206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:50330009 {source="MONDO:equivalentTo"}
xref: UMLS:C0750946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148206"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000013 ! sympathetic nervous system

[Term]
id: MONDO:0044995
name: parasympathetic nervous system disorder
def: "A disease or disorder that involves the parasympathetic nervous system." [MONDO:patterns/location]
synonym: "disease of parasympathetic nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of parasympathetic nervous system" EXACT []
synonym: "disorder of parasympathetic nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "parasympathetic nervous system disease" EXACT [MONDO:design_pattern]
synonym: "parasympathetic nervous system disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:148205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:46091002 {source="MONDO:equivalentTo"}
xref: UMLS:C0750945 {source="MEDGEN:148205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000011 ! parasympathetic nervous system

[Term]
id: MONDO:0044996
name: cerebral cortex disorder
def: "A disease or disorder that involves the cerebral cortex." [MONDO:patterns/location]
synonym: "cerebral cortex disease" EXACT [MONDO:design_pattern]
synonym: "cerebral cortex disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of cerebral cortex" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cerebral cortex" EXACT []
synonym: "disorder of cerebral cortex" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
xref: MEDGEN:688117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:128128003 {source="MONDO:equivalentTo"}
xref: UMLS:C1263847 {source="MONDO:equivalentTo", source="MEDGEN:688117", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000956 ! cerebral cortex

[Term]
id: MONDO:0044997
name: midbrain disorder
def: "A disease or disorder that involves the midbrain." [MONDO:patterns/location]
synonym: "disease of midbrain" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of midbrain" EXACT []
synonym: "disorder of midbrain" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "midbrain disease" EXACT [MONDO:design_pattern]
synonym: "midbrain disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:636737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:95641009 {source="MONDO:equivalentTo"}
xref: UMLS:C0521655 {source="MEDGEN:636737", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001891 ! midbrain

[Term]
id: MONDO:0044998
name: obsolete carpal region disorder
def: "OBSOLETE. A disease or disorder that involves the carpal region." [MONDO:patterns/location]
comment: Reason: out of scope. Term to consider: none
synonym: "carpal region disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of carpal region" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of carpal region" EXACT []
synonym: "disorder of carpal region" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disorder of wrist region" EXACT [MONDO:design_pattern]
synonym: "wrist region disease" EXACT [MONDO:design_pattern]
xref: SCTID:128130001 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4974" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0044999
name: obsolete scalp disorder
def: "OBSOLETE. A disease or disorder that involves the scalp." [MONDO:patterns/location]
comment: Reason: grouping class. Term to consider: none
synonym: "disease of scalp" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of scalp" EXACT []
synonym: "disorder of scalp" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "scalp disease" EXACT [MONDO:design_pattern]
synonym: "scalp disease or disorder" EXACT [MONDO:patterns/location]
xref: SCTID:238922006 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4968" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0045001
name: cardiac ventricle disorder
def: "A disease or disorder that involves the cardiac ventricle." [MONDO:patterns/location]
synonym: "cardiac ventricle disease" EXACT [MONDO:design_pattern]
synonym: "cardiac ventricle disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of cardiac ventricle" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of cardiac ventricle" EXACT []
synonym: "disorder of cardiac ventricle" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
xref: MEDGEN:736361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:415991003 {source="MONDO:equivalentTo"}
xref: UMLS:C1562298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:736361"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002082 ! cardiac ventricle

[Term]
id: MONDO:0045002
name: vertebral disorder
def: "A disease or disorder that involves the vertebra." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of vertebra" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vertebra" EXACT []
synonym: "disorder of vertebra" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "vertebra disease" EXACT [MONDO:design_pattern]
synonym: "vertebra disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:747221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:430886005 {source="MONDO:equivalentTo"}
xref: UMLS:C2316319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:747221"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0002412 ! vertebra

[Term]
id: MONDO:0045003
name: scrotal disorder
def: "A disease or disorder that involves the scrotum." [MONDO:patterns/location]
synonym: "disease of scrotum" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of scrotum" EXACT []
synonym: "disorder of scrotum" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "scrotum disease" EXACT [MONDO:design_pattern]
synonym: "scrotum disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:541586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:49701002 {source="MONDO:equivalentTo"}
xref: UMLS:C0268919 {source="MONDO:equivalentTo", source="MEDGEN:541586", source="MONDO:MEDGEN"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001300 ! scrotum

[Term]
id: MONDO:0045004
name: skeletal ligament disorder
def: "A disease or disorder that involves the skeletal ligament." [MONDO:patterns/location]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "disease of skeletal ligament" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of skeletal ligament" EXACT []
synonym: "disorder of skeletal ligament" EXACT [MONDO:patterns/location_top]
synonym: "skeletal ligament disease or disorder" EXACT [MONDO:patterns/location]
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0008846 ! skeletal ligament
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0045008
name: cholesterol metabolism disease
def: "A disease that has its basis in the disruption of cholesterol metabolic process." [MONDO:design_pattern]
comment: Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder)
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cholesterol metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "cholesterol metabolism disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cholesterol metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol metabolism" EXACT [MONDO:design_pattern]
xref: MEDGEN:575263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:123963007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342877 {source="MEDGEN:575263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002525 ! inherited lipid metabolism disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0008203 ! cholesterol metabolic process

[Term]
id: MONDO:0045010
name: glycoprotein metabolism disease
def: "A disease that has its basis in the disruption of glycoprotein metabolic process." [MONDO:design_pattern]
comment: Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disorder of glycoprotein metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycoprotein metabolism" EXACT [MONDO:design_pattern]
synonym: "glycoprotein metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "glycoprotein metabolism disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:575248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238045003 {source="MONDO:equivalentTo"}
xref: UMLS:C0342844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575248"}
is_a: MONDO:0019052 ! inborn errors of metabolism
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0009100 ! glycoprotein metabolic process

[Term]
id: MONDO:0045011
name: keratinization disease
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of keratinization" EXACT [MONDO:design_pattern]
synonym: "keratinization disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:635020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:277905003 {source="MONDO:equivalentTo"}
xref: UMLS:C0475811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:635020"}
is_a: MONDO:0002051 ! integumentary system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0031424 ! keratinization

[Term]
id: MONDO:0045012
name: steroid metabolism disease
def: "A disease that has its basis in the disruption of steroid metabolic process." [MONDO:design_pattern]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of steroid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of steroid metabolism" EXACT [MONDO:design_pattern]
synonym: "steroid metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "steroid metabolism disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:541265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:28710006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268283 {source="MEDGEN:541265", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0008202 ! steroid metabolic process

[Term]
id: MONDO:0045013
name: disorder of extraembryonic membrane
def: "A disease or disorder that involves the extraembryonic membrane." [MONDO:patterns/location]
synonym: "disease of extraembryonic membrane" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of extraembryonic membrane" EXACT []
synonym: "disorder of extraembryonic membrane" EXACT [MONDO:patterns/location_top]
synonym: "extraembryonic membrane disease" EXACT []
synonym: "extraembryonic membrane disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:783294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:609522002 {source="MONDO:equivalentTo"}
xref: UMLS:C3662139 {source="MEDGEN:783294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005917 ! placenta disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0005631 ! extraembryonic membrane

[Term]
id: MONDO:0045014
name: tetrahydrobiopterin metabolic process disease
def: "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of tetrahydrobiopterin metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of tetrahydrobiopterin metabolism" EXACT [MONDO:design_pattern]
synonym: "tetrahydrobiopterin metabolism disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:575174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237913008 {source="MONDO:equivalentTo"}
xref: UMLS:C0342676 {source="MEDGEN:575174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017306 ! disorder of phenylalanine metabolism
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process

[Term]
id: MONDO:0045015
name: carbohydrate transport disease
def: "A disease that has its basis in the disruption of carbohydrate transport." [MONDO:design_pattern]
synonym: "carbohydrate transport disease" EXACT [MONDO:design_pattern]
synonym: "disorder of carbohydrate transport" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
xref: MEDGEN:541226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:54905006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:541226"}
is_a: MONDO:0037792 ! carbohydrate metabolism disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0008643 ! carbohydrate transport

[Term]
id: MONDO:0045016
name: cholesterol catabolic process disease
def: "A disease that has its basis in the disruption of cholesterol catabolic process." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cholesterol catabolism disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cholesterol catabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol catabolism" EXACT [MONDO:design_pattern]
xref: MEDGEN:575238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238032002 {source="MONDO:equivalentTo"}
xref: UMLS:C0342825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575238"}
is_a: MONDO:0045008 {source="MONDO:Redundant"} ! cholesterol metabolism disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006707 ! cholesterol catabolic process

[Term]
id: MONDO:0045017
name: cholesterol biosynthetic process disease
def: "A disease that has its basis in the disruption of cholesterol biosynthetic process." [MONDO:design_pattern]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cholesterol synthesis disease" EXACT [MONDO:design_pattern]
synonym: "disorder of cholesterol biosynthetic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of cholesterol synthesis" EXACT [MONDO:design_pattern]
xref: MEDGEN:575241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:238036004 {source="MONDO:equivalentTo"}
xref: UMLS:C0342829 {source="MEDGEN:575241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0045008 {source="MONDO:Redundant"} ! cholesterol metabolism disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006695 ! cholesterol biosynthetic process

[Term]
id: MONDO:0045018
name: creatine biosynthetic process disease
def: "A disease that has its basis in the disruption of creatine biosynthetic process." [MONDO:design_pattern]
subset: otar {source="MONDO:OTAR"}
synonym: "creatine synthesis disease" EXACT [MONDO:design_pattern]
synonym: "disorder of creatine biosynthetic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of creatine synthesis" EXACT [MONDO:design_pattern]
xref: MEDGEN:657799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:297226004 {source="MONDO:equivalentTo"}
xref: UMLS:C0574079 {source="MEDGEN:657799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0037871 {source="MONDO:Redundant"} ! amino acid metabolism disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006601 ! creatine biosynthetic process

[Term]
id: MONDO:0045019
name: lactation disease
synonym: "disorder of lactation" EXACT [MONDO:design_pattern]
synonym: "lactation disease" EXACT [MONDO:design_pattern]
xref: ICD10CM:O85-O92 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:5997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:35046003 {source="MONDO:equivalentTo"}
xref: UMLS:C0022927 {source="MEDGEN:5997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002657 ! breast disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0007595 ! lactation

[Term]
id: MONDO:0045020
name: glycine metabolism disease
def: "A disease that has its basis in the disruption of glycine metabolic process." [MONDO:design_pattern]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of glycine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of glycine metabolism" EXACT [MONDO:design_pattern]
synonym: "glycine metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "glycine metabolism disease" EXACT [MONDO:design_pattern]
xref: MEDGEN:541361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:83076007 {source="MONDO:equivalentTo"}
xref: UMLS:C0268558 {source="MEDGEN:541361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006544 ! glycine metabolic process

[Term]
id: MONDO:0045021
name: obsolete sucrose intolerance disease
comment: See https://github.com/monarch-initiative/mondo/issues/886
synonym: "sucrose intolerance" EXACT []
xref: ICD9:271.3
xref: SCTID:190753003 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0009114

[Term]
id: MONDO:0045022
name: disorder of organic acid metabolism
def: "A disease that has its basis in the disruption of organic acid metabolic process." [MONDO:design_pattern]
subset: otar {source="MONDO:OTAR"}
synonym: "disorder of organic acid metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of organic acid metabolism" EXACT []
synonym: "organic acid metabolic process disease" EXACT [MONDO:design_pattern]
synonym: "organic acid metabolism disorder" EXACT []
xref: ICD9:277.89
xref: MEDGEN:468982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2100161 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:116021002 {source="MONDO:equivalentTo"}
xref: UMLS:C1263739 {source="MEDGEN:468982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="MONDO:Redundant"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006082 ! organic acid metabolic process

[Term]
id: MONDO:0045023
name: acquired adrenogenital syndrome
def: "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual." [MONDO:patterns/acquired]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acquired adrenogenital syndrome" EXACT [MONDO:patterns/acquired]
xref: MEDGEN:536747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:190512008 {source="MONDO:equivalentTo"}
xref: UMLS:C0237971 {source="MEDGEN:536747", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0015898 ! adrenogenital syndrome
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0045024
name: cancer or benign tumor
def: "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions." [https://orcid.org/0000-0002-6601-2165]
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
synonym: "cell proliferation disorder" RELATED [https://orcid.org/0000-0002-4142-7153]
synonym: "neoplasm" NARROW [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neoplasm]
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_disrupts GO:0008283 ! cell population proliferation
union_of: MONDO:0005043 ! hyperplasia
union_of: MONDO:0021074 ! precancerous condition
union_of: MONDO:0023370 ! neoplastic disease or syndrome
union_of: MONDO:0045054 ! cancer-related condition

[Term]
id: MONDO:0045028
name: obsolete radiation or chemically induced disorder
def: "OBSOLETE. A disease or disorder that is induced by either chemical or radiation exposure." [https://orcid.org/0000-0002-6601-2165]
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3414" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0045029
name: obsolete Deuteromycetes infectious disease
synonym: "infection by Deuteromycetes" EXACT []
synonym: "infection caused by Deuteromycetes" RELATED []
xref: SCTID:59258008 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true
consider: MONDO:0002041

[Term]
id: MONDO:0045030
name: non-infectious diarrheal disease
synonym: "non-infective diarrhea" EXACT []
synonym: "non-infective diarrhoea" EXACT OMO:0003005 []
synonym: "presumed non-infectious diarrhea" RELATED []
synonym: "presumed non-infectious diarrhoea" RELATED OMO:0003005 []
xref: MEDGEN:540680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:69980003 {source="MONDO:equivalentTo"}
xref: UMLS:C0267436 {source="MEDGEN:540680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001673 {source="https://orcid.org/0000-0001-5208-3432"} ! diarrheal disease

[Term]
id: MONDO:0045031
name: obsolete infectious diarrheal disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3703" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0001517

[Term]
id: MONDO:0045032
name: congenital secretory diarrhea
synonym: "congenital secretory diarrhea" EXACT []
xref: ICD9:579.8
xref: MEDGEN:82757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:25898005 {source="MONDO:equivalentTo"}
xref: UMLS:C0267661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82757"}
intersection_of: MONDO:0000249 ! secretory diarrhea
intersection_of: MONDO:0000824 ! congenital diarrhea
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0045033
name: opportunistic systemic mycosis
def: "A mycosis that arises from infection in an immunologically compromised host and is systemic." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
intersection_of: MONDO:0000256 ! systemic mycosis
intersection_of: has_characteristic MONDO:0045035 ! opportunistic infectious

[Term]
id: MONDO:0045034
name: infectious disease characteristic
is_a: MONDO:0021125 {source="https://orcid.org/0000-0001-5208-3432"} ! disease characteristic

[Term]
id: MONDO:0045035
name: opportunistic infectious
def: "A characteristic of an infectious disease in which the disease affects an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
is_a: MONDO:0045034 ! infectious disease characteristic

[Term]
id: MONDO:0045036
name: primary infectious
def: "A characteristic of an infectious disease in which the disease affects an immunologically normal host." [https://www.ncbi.nlm.nih.gov/books/NBK7902]
is_a: MONDO:0045034 ! infectious disease characteristic

[Term]
id: MONDO:0045037
name: hyalohyphomycosis
def: "An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host." [MESH:D060605]
synonym: "hyalohyphomycosis" EXACT []
xref: MEDGEN:452455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060605 {source="MONDO:equivalentTo"}
xref: SCTID:240773008 {source="MONDO:equivalentTo"}
xref: UMLS:C0343952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:452455"}
is_a: MONDO:0002041 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! fungal infectious disease
relationship: has_characteristic MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious

[Term]
id: MONDO:0045038
name: cutaneous basidiobolomycosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:575967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:240786004 {source="MONDO:equivalentTo"}
xref: UMLS:C0343966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575967"}
intersection_of: MONDO:0000302 ! basidiobolomycosis
intersection_of: disease_has_location UBERON:0002416 ! integumental system

[Term]
id: MONDO:0045039
name: systemic basidiobolomycosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disseminated basidiobolomycosis" EXACT []
xref: MEDGEN:575968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:240787008 {source="MONDO:equivalentTo"}
xref: UMLS:C0343967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575968"}
is_a: MONDO:0000302 {source="https://orcid.org/0000-0001-5208-3432"} ! basidiobolomycosis

[Term]
id: MONDO:0045040
name: locational disease characteristic
is_a: MONDO:0021125 {source="https://orcid.org/0000-0001-5208-3432"} ! disease characteristic

[Term]
id: MONDO:0045042
name: restricted to specific location
synonym: "localised" EXACT OMO:0003005 []
synonym: "localized" EXACT []
xref: MEDGEN:98236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0392752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98236"}
is_a: MONDO:0045040 ! locational disease characteristic

[Term]
id: MONDO:0045043
name: disorder of uterine broad ligament
def: "A disease or disorder that involves the broad ligament of uterus." [MONDO:patterns/location]
synonym: "broad ligament of uterus disease" EXACT []
synonym: "broad ligament of uterus disease or disorder" EXACT [MONDO:patterns/location]
synonym: "disease of broad ligament of uterus" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of broad ligament of uterus" EXACT []
synonym: "disorder of broad ligament" EXACT []
synonym: "disorder of broad ligament of uterus" EXACT [MONDO:patterns/location_top]
xref: MEDGEN:589074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237062006 {source="MONDO:equivalentTo"}
xref: UMLS:C0404479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:589074"}
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0012332 ! broad ligament of uterus

[Term]
id: MONDO:0045044
name: ligament disorder
def: "A disease or disorder that involves the ligament." [MONDO:patterns/location]
subset: rare_grouping
synonym: "disease of ligament" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of ligament" EXACT []
synonym: "disorder of ligament" EXACT [MONDO:patterns/location_top]
synonym: "ligament disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:538235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:60492000 {source="MONDO:equivalentTo"}
xref: UMLS:C0263976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538235"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000211 ! ligament

[Term]
id: MONDO:0045045
name: selective IgG immunodeficiency
def: "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity." [NCIT:C27142]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "IgG deficiency" RELATED [GARD:0010371]
synonym: "IgG subclass deficiency" RELATED [GARD:0010371]
synonym: "selective IgG immunodeficiency" EXACT [NCIT:C27142]
xref: MEDGEN:1720114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200346 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C27142 {source="MONDO:equivalentTo"}
xref: SCTID:12631000119106 {source="MONDO:equivalentTo"}
xref: UMLS:C5234937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720114"}
is_a: MONDO:0001342 ! dysgammaglobulinemia
is_a: MONDO:0003739 {source="NCIT:C27142"} ! selective immunoglobulin deficiency disease

[Term]
id: MONDO:0045046
name: inherited thyroid metabolism disease
def: "An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "inborn error of thyroid hormone metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
synonym: "inborn thyroid hormone metabolic process disorder" EXACT []
synonym: "inherited disorder of thyroid metabolism" EXACT []
synonym: "rare inborn error of thyroid hormone metabolic process" EXACT [MONDO:patterns/inborn_metabolic]
xref: ICD9:246.8
xref: MEDGEN:543589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:36985004 {source="MONDO:equivalentTo"}
xref: UMLS:C0271824 {source="MEDGEN:543589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003240 ! thyroid gland disorder
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0042403 ! thyroid hormone metabolic process

[Term]
id: MONDO:0045047
name: neurosarcoidosis
def: "A sarcoidosis that involves the nervous system." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "nervous system sarcoidosis" EXACT [MONDO:patterns/location]
synonym: "neurosarcoidosis" EXACT []
synonym: "sarcoidosis of nervous system" EXACT []
xref: MEDGEN:97948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535814 {source="MONDO:equivalentTo"}
xref: SCTID:230193008 {source="MONDO:equivalentTo"}
xref: UMLS:C0393485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:97948"}
intersection_of: MONDO:0019338 ! sarcoidosis
intersection_of: disease_has_location UBERON:0001016 ! nervous system

[Term]
id: MONDO:0045048
name: toxemia of pregnancy
def: "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." [NCIT:C34943]
subset: otar {source="MONDO:OTAR"}
synonym: "toxemia of pregnancy" EXACT [NCIT:C34943]
xref: MEDGEN:1638686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34943 {source="MONDO:equivalentTo"}
xref: UMLS:C4551893 {source="MEDGEN:1638686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024664 {source="NCIT:C34943"} ! hypertension, pregnancy-induced

[Term]
id: MONDO:0045049
name: hypermature cataract
synonym: "hypermature cataract" EXACT []
xref: ICD9:366.18
xref: SCTID:267626000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005129 {source="https://orcid.org/0000-0001-5208-3432"} ! cataract

[Term]
id: MONDO:0045050
name: nuclear cataract
def: "A cataract (disease) that involves the lens nucleus." [MONDO:design_pattern]
subset: otar {source="MONDO:OTAR"}
synonym: "cataract (disease) of lens nucleus" EXACT []
synonym: "lens nucleus cataract (disease)" EXACT [MONDO:patterns/location]
xref: HP:0100018
xref: ICD9:366.04
xref: MEDGEN:140274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C135176 {source="MONDO:equivalentTo"}
xref: SCTID:53889007 {source="MONDO:equivalentTo"}
xref: UMLS:C0392557 {source="MEDGEN:140274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="MONDO:Redundant"} ! cataract
intersection_of: MONDO:0005129 ! cataract
intersection_of: disease_has_location UBERON:0000390 ! lens nucleus

[Term]
id: MONDO:0045051
name: cortical cataract
def: "A cataract (disease) that involves the lens cortex." [MONDO:patterns/location]
synonym: "cataract (disease) of lens cortex" EXACT []
synonym: "lens cortex cataract (disease)" EXACT [MONDO:patterns/location]
xref: ICD9:366.03
xref: MEDGEN:82868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C135177 {source="MONDO:equivalentTo"}
xref: SCTID:193576003 {source="MONDO:equivalentTo"}
xref: UMLS:C0271160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82868"}
intersection_of: MONDO:0005129 ! cataract
intersection_of: disease_has_location UBERON:0000389 ! lens cortex

[Term]
id: MONDO:0045052
name: benign osteogenic neoplasm
def: "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma." [NCIT:C6602]
synonym: "benign osseous neoplasm" RELATED [NCIT:C6602]
synonym: "benign osseous tumor" RELATED [NCIT:C6602]
synonym: "benign osseous tumour" RELATED OMO:0003005 []
synonym: "benign osteogenic neoplasm" EXACT [NCIT:C6602]
synonym: "benign osteogenic tumor" EXACT [NCIT:C6602]
synonym: "benign osteogenic tumour" EXACT OMO:0003005 []
synonym: "osteogenic neoplasm, benign" EXACT [MONDO:patterns/benign]
xref: MEDGEN:231943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6602 {source="MONDO:equivalentTo"}
xref: UMLS:C1332523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231943"}
is_a: MONDO:0000654 {source="NCIT:C6602"} ! benign connective and soft tissue neoplasm
is_a: MONDO:0045053 {source="MONDO:Redundant", source="NCIT:C6602"} ! osteogenic neoplasm
intersection_of: MONDO:0045053 ! osteogenic neoplasm
intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant

[Term]
id: MONDO:0045053
name: osteogenic neoplasm
def: "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma." [NCIT:C6603]
synonym: "osseous neoplasm" RELATED [NCIT:C6603]
synonym: "osseous tumor" RELATED [NCIT:C6603]
synonym: "osseous tumour" RELATED OMO:0003005 []
synonym: "osteogenic neoplasm" EXACT [NCIT:C6603]
synonym: "osteogenic tumor" EXACT [NCIT:C6603]
synonym: "osteogenic tumour" EXACT OMO:0003005 []
xref: MEDGEN:277453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C6603 {source="MONDO:equivalentTo"}
xref: UMLS:C1335146 {source="MEDGEN:277453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C6603"} ! mesenchymal cell neoplasm
intersection_of: MONDO:0002616 {source="NCIT:C6603"} ! mesenchymal cell neoplasm
intersection_of: disease_arises_from_structure CL:0000062 {source="NCIT:C6603"} ! osteoblast

[Term]
id: MONDO:0045054
name: cancer-related condition
def: "A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome)." [NCIT:C8278]
subset: otar {source="MONDO:OTAR"}
synonym: "cancer related problem/condition" EXACT [NCIT:C8278]
synonym: "cancer-related condition" EXACT [NCIT:C8278]
synonym: "cancer-related problem or condition" EXACT [NCIT:C8278]
synonym: "oncologic complications" EXACT [NCIT:C8278]
synonym: "problem/condition, cancer related" EXACT [NCIT:C8278]
synonym: "problem/condition, cancer-related" EXACT [NCIT:C8278]
xref: MEDGEN:128925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8278 {source="MONDO:equivalentTo"}
xref: UMLS:C0280950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:128925"}
is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor

[Term]
id: MONDO:0045055
name: glycogen-rich carcinoma
def: "A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma." [NCIT:C4153]
synonym: "Glycogen-rich carcinoma" EXACT [NCIT:C4153]
xref: DOID:0081028 {source="MONDO:equivalentTo"}
xref: MEDGEN:83127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4153 {source="MONDO:equivalentTo"}
xref: UMLS:C0334319 {source="MEDGEN:83127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004993 {source="NCIT:C4153"} ! carcinoma

[Term]
id: MONDO:0045056
name: grade II meningioma
def: "An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma." [NCIT:C38937]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "grade 2 meningioma" EXACT [NCIT:C38937]
synonym: "grade II meningioma" EXACT [NCIT:C38937]
synonym: "WHO grade II meningioma" EXACT [NCIT:C38937]
xref: MEDGEN:307517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C38937 {source="MONDO:equivalentTo"}
xref: UMLS:C1512259 {source="MONDO:equivalentTo", source="MEDGEN:307517", source="MONDO:MEDGEN"}
is_a: MONDO:0016642 {source="MONDO:Redundant", source="NCIT:C38937"} ! meningioma
intersection_of: MONDO:0016642 {source="NCIT:C38937"} ! meningioma
intersection_of: has_characteristic MONDO:0024492 {source="NCIT:C38937"} ! tumor grade 2, general grading system
relationship: has_characteristic MONDO:0024492 {source="NCIT:C38937"} ! tumor grade 2, general grading system

[Term]
id: MONDO:0045057
name: delirium
def: "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" [MESH:D003693]
subset: otar {source="MONDO:OTAR"}
synonym: "OBS syndrome" RELATED [PMID:15876360]
synonym: "organic brain syndrome" RELATED []
xref: EFO:0009267 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:293.0
xref: MEDGEN:41445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D003693 {source="MONDO:equivalentTo"}
xref: NCIT:C2981 {source="MONDO:equivalentTo"}
xref: SCTID:2776000 {source="MONDO:equivalentTo"}
xref: UMLS:C0011206 {source="MEDGEN:41445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002039 {source="MESH:D003693"} ! cognitive disorder

[Term]
id: MONDO:0045058
name: ACTH-producing pituitary gland neoplasm
def: "An adenoma or carcinoma of the pituitary gland that produces corticotropin." [NCIT:C7909]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACTH producing pituitary gland neoplasm" EXACT [NCIT:C7909]
synonym: "ACTH-producing pituitary gland neoplasm" EXACT [NCIT:C7909]
synonym: "ACTH-producing pituitary neoplasm" EXACT [NCIT:C7909]
synonym: "ACTH-producing pituitary tumor" EXACT [NCIT:C7909]
synonym: "ACTH-producing pituitary tumour" EXACT OMO:0003005 []
synonym: "ACTH-secreting tumor of pituitary" EXACT [NCIT:C7909]
synonym: "ACTH-secreting tumor of the pituitary" EXACT [NCIT:C7909]
synonym: "ACTH-secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "ACTH-secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin producing pituitary gland tumour" EXACT OMO:0003005 []
synonym: "adrenocorticotropin secreting neoplasm of pituitary" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting neoplasm of the pituitary" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting pituitary gland tumour" EXACT OMO:0003005 []
synonym: "adrenocorticotropin secreting tumor of pituitary" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting tumor of the pituitary" EXACT [NCIT:C7909]
synonym: "adrenocorticotropin secreting tumour of pituitary" EXACT OMO:0003005 []
synonym: "adrenocorticotropin secreting tumour of the pituitary" EXACT OMO:0003005 []
synonym: "corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C7909]
synonym: "pituitary corticotropin secreting neoplasm" EXACT [NCIT:C7909]
synonym: "pituitary corticotropin secreting tumor" EXACT [NCIT:C7909]
synonym: "pituitary corticotropin secreting tumour" EXACT OMO:0003005 []
xref: MEDGEN:82997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7909 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0278862 {source="MONDO:equivalentTo", source="MEDGEN:82997", source="MONDO:MEDGEN"}
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_location UBERON:0000007 ! pituitary gland
intersection_of: realized_in GO:0051458 ! corticotropin secretion

[Term]
id: MONDO:0045059
name: cribriform carcinoma of breast
synonym: "cribriform carcinoma" BROAD []
synonym: "ductal carcinoma, cribriform type" EXACT [DOID:5675]
xref: DOID:5675 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3680 {source="DOID:5675"}
xref: SCTID:30156004 {source="DOID:5675"}
xref: UMLS:C2138440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843502"}
is_a: MONDO:0004989 {source="DOID:5675", source="MONDO:Redundant"} ! breast carcinoma
intersection_of: MONDO:0004989 ! breast carcinoma
intersection_of: disease_has_feature NCIT:C35920 ! Cribriform Pattern

[Term]
id: MONDO:0045060
name: intraductal cribriform breast adenocarcinoma
def: "A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern." [NCIT:C5138]
synonym: "cribriform DCIS of breast" EXACT [NCIT:C5138]
synonym: "cribriform DCIS of the breast" EXACT [NCIT:C5138]
synonym: "cribriform ductal breast carcinoma in situ" EXACT [NCIT:C5138]
synonym: "cribriform ductal carcinoma in situ of breast" EXACT [NCIT:C5138]
synonym: "cribriform ductal carcinoma in situ of the breast" EXACT [NCIT:C5138]
synonym: "DCIS of breast with cribriform pattern" EXACT [NCIT:C5138]
synonym: "DCIS of the breast with cribriform pattern" EXACT [NCIT:C5138]
synonym: "ductal carcinoma in situ of breast with cribriform pattern" EXACT [NCIT:C5138]
synonym: "ductal carcinoma in situ of the breast with cribriform pattern" EXACT [NCIT:C5138]
synonym: "intraductal cribriform breast adenocarcinoma" EXACT [NCIT:C5138]
synonym: "non-infiltrating cribriform ductal breast carcinoma" EXACT [NCIT:C5138]
synonym: "non-invasive cribriform ductal breast carcinoma" EXACT [NCIT:C5138]
xref: ICDO:8201/2 {source="NCIT:C5138"}
xref: MEDGEN:233570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5138 {source="MONDO:equivalentTo"}
xref: UMLS:C1334248 {source="MEDGEN:233570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005023 {source="MONDO:Redundant", source="NCIT:C5138"} ! ductal breast carcinoma in situ
is_a: MONDO:0006176 {source="NCIT:C5138"} ! cribriform carcinoma
intersection_of: MONDO:0005023 ! ductal breast carcinoma in situ
intersection_of: disease_has_feature NCIT:C35920 ! Cribriform Pattern

[Term]
id: MONDO:0045063
name: major salivary gland adenoid cystic carcinoma
def: "An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." [NCIT:C5905]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of major salivary gland" EXACT [NCIT:C5905]
synonym: "adenoid cystic carcinoma of the major salivary gland" EXACT [NCIT:C5905]
synonym: "major salivary gland adenoid cystic cancer" EXACT [NCIT:C5905]
synonym: "major salivary gland adenoid cystic carcinoma" EXACT [NCIT:C5905]
xref: MEDGEN:235286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5905 {source="MONDO:equivalentTo"}
xref: UMLS:C1334548 {source="MEDGEN:235286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003175 {source="MONDO:Redundant", source="NCIT:C5905"} ! salivary gland adenoid cystic carcinoma
is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5905"} ! major salivary gland carcinoma
intersection_of: MONDO:0004971 ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001829 ! major salivary gland

[Term]
id: MONDO:0045068
name: minor salivary gland adenoid cystic carcinoma
def: "An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass." [NCIT:C5936]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenoid cystic carcinoma of minor salivary gland" EXACT [NCIT:C5936]
synonym: "adenoid cystic carcinoma of the minor salivary gland" EXACT [NCIT:C5936]
synonym: "minor salivary gland adenoid cystic carcinoma" EXACT [NCIT:C5936]
xref: MEDGEN:233709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5936 {source="MONDO:equivalentTo"}
xref: UMLS:C1334769 {source="MEDGEN:233709", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003175 {source="MONDO:Redundant", source="NCIT:C5936"} ! salivary gland adenoid cystic carcinoma
intersection_of: MONDO:0003175 {source="NCIT:C5936"} ! salivary gland adenoid cystic carcinoma
intersection_of: MONDO:0004971 {source="NCIT:C5936"} ! adenoid cystic carcinoma
intersection_of: disease_has_location UBERON:0001830 {source="NCIT:C5936"} ! minor salivary gland

[Term]
id: MONDO:0045069
name: minor salivary gland carcinoma
def: "A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma." [NCIT:C5957]
subset: otar {source="MONDO:OTAR"}
synonym: "carcinoma of minor salivary gland" EXACT [MONDO:patterns/carcinoma, NCIT:C5957]
synonym: "carcinoma of the minor salivary gland" EXACT [NCIT:C5957]
synonym: "minor salivary gland cancer" EXACT [NCIT:C5957]
synonym: "minor salivary gland carcinoma" EXACT [NCIT:C5957]
xref: MEDGEN:233710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5957 {source="MONDO:equivalentTo"}
xref: UMLS:C1334771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233710"}
is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5957"} ! salivary gland carcinoma
is_a: MONDO:0021316 {source="MONDO:Redundant", source="NCIT:C5957"} ! malignant tumor of minor salivary gland
intersection_of: MONDO:0004993 ! carcinoma
intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland

[Term]
id: MONDO:0045070
name: digestive system melanoma
def: "A melanoma that arises from any part of the digestive system." [NCIT:C7091]
subset: otar {source="MONDO:OTAR"}
synonym: "digestive system melanoma" EXACT [NCIT:C7091]
synonym: "digestive system melanoma (disease)" EXACT [MONDO:patterns/location]
synonym: "gastrointestinal melanoma" EXACT [NCIT:C7091]
synonym: "melanoma (disease) of digestive system" EXACT []
xref: MEDGEN:234305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7091 {source="MONDO:equivalentTo"}
xref: UMLS:C1333798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234305"}
is_a: MONDO:0002516 {source="NCIT:C7091"} ! digestive system cancer
is_a: MONDO:0006320 {source="NCIT:C7091"} ! non-cutaneous melanoma
intersection_of: MONDO:0005105 ! melanoma
intersection_of: disease_has_location UBERON:0001007 ! digestive system

[Term]
id: MONDO:0045071
name: mycosis fungoides variant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mycosis fungoides variant" EXACT [NCIT:C39644]
xref: MEDGEN:271222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39644 {source="MONDO:equivalentTo"}
xref: UMLS:C1513782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271222"}
is_a: MONDO:0000607 {source="NCIT:C39644"} ! primary cutaneous T-cell non-Hodgkin lymphoma
is_a: MONDO:0015821 {source="https://orcid.org/0000-0002-6601-2165"} ! mycosis fungoides and variants
relationship: disease_shares_features_of MONDO:0009691 {source="https://orcid.org/0000-0002-6601-2165"} ! mycosis fungoides

[Term]
id: MONDO:0045072
name: ectopic hormone secretion syndrome associated with neoplasia
def: "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body." [NCIT:C4065]
synonym: "ectopic hormone secretion syndrome associated with neoplasia" EXACT [NCIT:C4065]
synonym: "neoplasm associated ectopic hormone secretion syndrome" EXACT [NCIT:C4065]
xref: MEDGEN:208863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4065 {source="MONDO:equivalentTo"}
xref: UMLS:C0851689 {source="MEDGEN:208863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021058 {source="NCIT:C4065"} ! neoplastic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI

[Term]
id: MONDO:0049221
name: myopia 26, X-linked, female-limited
subset: otar {source="MONDO:OTAR"}
synonym: "myopia 26, X-linked, female-limited" EXACT [OMIM:301010]
synonym: "MYP26" RELATED ABBREVIATION [OMIM:301010]
xref: MEDGEN:1618364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301010 {source="MONDO:equivalentTo"}
xref: UMLS:C4538795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618364"}
is_a: MONDO:0001384 {source="OMIM:301010"} ! myopia

[Term]
id: MONDO:0049222
name: intellectual disability, X-linked 107
subset: gard_rare {source="GARD:22698", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual developmental disorder, X-linked 107" EXACT [OMIM:301013, OMIM:genemap2]
synonym: "intellectual disability, X-linked 107" EXACT [OMIM:301013]
synonym: "mental retardation, X-linked 107" RELATED DEPRECATED [OMIM:301013]
synonym: "MRX107" RELATED DEPRECATED [OMIM:301013]
xref: DOID:0112054 {source="MONDO:equivalentTo"}
xref: GARD:22698 {source="MONDO:GARD"}
xref: MEDGEN:1639885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301013 {source="MONDO:equivalentTo"}
xref: Orphanet:777 {source="OMIM:301013"}
xref: UMLS:C4692652 {source="MEDGEN:1639885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019181 {source="OMIM:301013"} ! non-syndromic X-linked intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0049223
name: osteogenesis imperfecta, type 19
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "OI19" RELATED ABBREVIATION [OMIM:301014]
synonym: "osteogenesis imperfecta, type XIX" RELATED [OMIM:301014]
synonym: "osteogenesis imperfecta, type XIX, X-linked recessive" EXACT [OMIM:301014, OMIM:genemap2]
xref: DOID:0111847 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301014 {source="MONDO:equivalentTo"}
xref: UMLS:C4746956 {source="MEDGEN:1648353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019019 {source="OMIM:301014"} ! osteogenesis imperfecta
is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0054549
name: peroxisome biogenesis disorder 10B
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PBD10B" RELATED ABBREVIATION [OMIM:617370]
synonym: "peroxisome biogenesis disorder 10B" EXACT CLINGEN_LABEL [OMIM:617370]
xref: DOID:0081440 {source="MONDO:equivalentTo"}
xref: MEDGEN:1379481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617370 {source="MONDO:equivalentTo"}
xref: Orphanet:44 {source="OMIM:617370"}
xref: Orphanet:772 {source="OMIM:617370"}
xref: Orphanet:912 {source="OMIM:617370"}
xref: UMLS:C4479254 {source="MEDGEN:1379481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100261 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX3 defect
relationship: excluded_subClassOf MONDO:0019234 {source="OMIM:617370", source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder
relationship: has_characteristic MONDO:0100357 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-classic presentation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0054550
name: avascular necrosis of femoral head, primary, 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ANFH1" RELATED ABBREVIATION [OMIM:608805]
synonym: "avascular necrosis of femoral head, primary, 1" EXACT [OMIM:608805]
synonym: "avascular necrosis of the femoral head" EXACT [OMIM:608805, OMIM:genemap2]
synonym: "femoral head, aseptic necrosis of" RELATED [OMIM:608805]
synonym: "Femoral head, avascular necrosis of" RELATED [OMIM:608805]
synonym: "ischaemic necrosis of femoral head" RELATED OMO:0003005 []
synonym: "ischemic necrosis of femoral head" RELATED [OMIM:608805]
synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805]
xref: MEDGEN:1639295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608805 {source="MONDO:equivalentTo"}
xref: Orphanet:86820 {source="OMIM:608805"}
xref: UMLS:C4551562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639295"}
is_a: MONDO:0012126 {source="OMIM:608805"} ! familial avascular necrosis of femoral head
is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy
is_a: MONDO:1030002 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! dysplasia of the proximal femoral epiphyses
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0054551
name: avascular necrosis of femoral head, primary, 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ANFH2" RELATED ABBREVIATION [OMIM:617383]
synonym: "avascular necrosis of femoral head, primary, 2" EXACT [OMIM:617383]
xref: MEDGEN:1386338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617383 {source="MONDO:equivalentTo"}
xref: Orphanet:86820 {source="OMIM:617383"}
xref: UMLS:C4479260 {source="MEDGEN:1386338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012126 {source="OMIM:617383"} ! familial avascular necrosis of femoral head

[Term]
id: MONDO:0054559
name: congenital disorder of glycosylation, type IIq
subset: gard_rare {source="GARD:17720", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:435934"}
subset: orphanet_rare {source="Orphanet:435934"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDG Iiq" RELATED ABBREVIATION [OMIM:617395]
synonym: "CDG2Q" RELATED ABBREVIATION [OMIM:617395]
synonym: "COG2-CDG" EXACT ABBREVIATION [MONDO:0018568]
synonym: "COG2-related congenital disorder of glycosylation" EXACT [Orphanet:435934]
xref: DOID:0070269 {source="MONDO:equivalentTo"}
xref: GARD:17720 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:435934", source="Orphanet:435934/attributed", source="Orphanet:435934/ntbt"}
xref: MEDGEN:1390458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617395 {source="MONDO:equivalentTo", source="Orphanet:435934"}
xref: Orphanet:435934 {source="MONDO:equivalentTo", source="OMIM:617395"}
xref: UMLS:C4479353 {source="MEDGEN:1390458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="OMIM:617395"} ! congenital disorder of glycosylation type II
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
is_a: MONDO:0017750 {source="Orphanet:435934"} ! defect in conserved oligomeric Golgi complex
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0054560
name: anauxetic dysplasia 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anauxetic dysplasia" RELATED [OMIM:607095]
synonym: "anauxetic dysplasia 1" EXACT [OMIM:607095]
synonym: "ANXD1" RELATED ABBREVIATION [OMIM:607095]
synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" RELATED [OMIM:607095]
synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095]
synonym: "spondylometaepiphyseal dysplasia, Menger type" RELATED [OMIM:607095]
xref: DOID:0050640 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MEDGEN:1638106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607095 {source="MONDO:equivalentTo"}
xref: Orphanet:93347 {source="OMIM:607095"}
xref: UMLS:C4551965 {source="MONDO:equivalentTo", source="MEDGEN:1638106", source="MONDO:MEDGEN"}
is_a: MONDO:0011773 {source="OMIM:607095"} ! anauxetic dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10031 {source="MONDO:mim2gene_medgen"} ! RMRP

[Term]
id: MONDO:0054561
name: anauxetic dysplasia 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anauxetic dysplasia 2" EXACT [OMIM:617396]
synonym: "ANXD2" RELATED ABBREVIATION [OMIM:617396]
xref: DOID:0080962 {source="MONDO:equivalentTo"}
xref: MEDGEN:1384439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617396 {source="MONDO:equivalentTo"}
xref: Orphanet:93347 {source="OMIM:617396"}
xref: UMLS:C4479357 {source="MEDGEN:1384439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011773 {source="OMIM:617396"} ! anauxetic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0054565
name: short-rib thoracic dysplasia 17 with or without polydactyly
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short-rib thoracic dysplasia 17 with or without POLYDACTYLY" RELATED [OMIM:617405]
synonym: "SRTD17" RELATED ABBREVIATION [OMIM:617405]
xref: MEDGEN:1372794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617405 {source="MONDO:equivalentTo"}
xref: Orphanet:93426 {source="OMIM:617405"}
xref: UMLS:C4479416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1372794"}
is_a: MONDO:0018770 {source="OMIM:617405"} ! Jeune syndrome

[Term]
id: MONDO:0054573
name: Lopes-Maciel-Rodan syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "LOMARS" RELATED ABBREVIATION [OMIM:617435]
synonym: "Lopes-Maciel-Rodan syndrome" EXACT [OMIM:617435]
xref: EFO:0009904 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1379711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617435 {source="MONDO:equivalentTo"}
xref: UMLS:C4479491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1379711"}
is_a: MONDO:0002254 ! syndromic disease

[Term]
id: MONDO:0054577
name: bleeding disorder, platelet-type, 21
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16230", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BDPLT21" RELATED ABBREVIATION [OMIM:617443]
synonym: "bleeding disorder, platelet-type, 21" EXACT [OMIM:617443]
xref: GARD:16230 {source="MONDO:GARD"}
xref: MEDGEN:1386863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617443 {source="MONDO:equivalentTo"}
xref: Orphanet:851 {source="OMIM:617443"}
xref: UMLS:C4479515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386863"}
is_a: MONDO:0000009 {source="OMIM:617443"} ! inherited bleeding disorder, platelet-type

[Term]
id: MONDO:0054581
name: Townes-Brocks syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anus, imperforate, with hand, Foot, and Ear anomalies" RELATED [OMIM:107480]
synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [OMIM:107480]
synonym: "rear syndrome" RELATED [OMIM:107480]
synonym: "renal-ear-anal-radial syndrome" RELATED [OMIM:107480]
synonym: "TBS1" RELATED ABBREVIATION [OMIM:107480]
synonym: "townes-brocks branchiootorenal-like syndrome" EXACT [OMIM:107480, OMIM:genemap2]
synonym: "Townes-Brocks syndrome 1" EXACT [OMIM:107480]
synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480]
xref: MEDGEN:1635275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:107480 {source="MONDO:equivalentTo"}
xref: Orphanet:857 {source="OMIM:107480"}
xref: UMLS:C4551481 {source="MEDGEN:1635275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007142 {source="OMIM:107480"} ! Townes-Brocks syndrome
is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10524 {source="MONDO:mim2gene_medgen"} ! SALL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0054582
name: Townes-Brocks syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TBS2" RELATED ABBREVIATION [OMIM:617466]
synonym: "Townes-Brocks syndrome 2" EXACT [OMIM:617466]
xref: MEDGEN:1381939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617466 {source="MONDO:equivalentTo"}
xref: Orphanet:857 {source="OMIM:617466"}
xref: UMLS:C4479534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381939"}
is_a: MONDO:0007142 {source="OMIM:617466"} ! Townes-Brocks syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17748 ! DACT1

[Term]
id: MONDO:0054588
name: Noonan syndrome-like disorder with loose anagen hair 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Noonan syndrome-like disorder with loose anagen hair 2" EXACT CLINGEN_LABEL [OMIM:617506]
synonym: "NSLH2" RELATED ABBREVIATION [OMIM:617506]
xref: DOID:0080693 {source="MONDO:equivalentTo"}
xref: MEDGEN:1376945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176940 {source="MONDO:equivalentTo"}
xref: OMIM:617506 {source="MONDO:equivalentTo"}
xref: Orphanet:2701 {source="OMIM:617506"}
xref: UMLS:C4479577 {source="MEDGEN:1376945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011899 {source="OMIM:617506"} ! Noonan syndrome-like disorder with loose anagen hair

[Term]
id: MONDO:0054591
name: Stankiewicz-Isidor syndrome
def: "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." [OMIM:617516]
subset: otar {source="MONDO:OTAR"}
synonym: "Stankiewicz-Isidor syndrome" EXACT [OMIM:617516]
synonym: "STISS" RELATED ABBREVIATION [OMIM:617516]
xref: MEDGEN:1375936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617516 {source="MONDO:equivalentTo"}
xref: UMLS:C4479599 {source="MEDGEN:1375936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0005071 {source="OMIM:617516", source="UMLS:C4479599"} ! nervous system disorder
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0054593
name: microcephaly 18, primary, autosomal dominant
subset: gard_rare {source="GARD:16233", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH18" RELATED ABBREVIATION [OMIM:617520]
synonym: "microcephaly 18, primary, autosomal dominant" EXACT [OMIM:617520]
synonym: "primary autosomal dominant microcephaly 18" RELATED [DOID:0070295]
xref: DOID:0070295 {source="MONDO:equivalentTo"}
xref: GARD:16233 {source="MONDO:GARD"}
xref: MEDGEN:1391110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617520 {source="MONDO:equivalentTo"}
xref: UMLS:C4479608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1391110"}
is_a: MONDO:0007988 {source="OMIM:617520", source="https://orcid.org/0000-0001-5493-2602"} ! autosomal dominant primary microcephaly
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: excluded_subClassOf MONDO:0016660 {source="OMIM:617520", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal recessive primary microcephaly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3738" xsd:anyURI

[Term]
id: MONDO:0054601
name: pituitary adenoma 5, multiple types
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PITA5" RELATED ABBREVIATION [OMIM:617540]
synonym: "pituitary adenoma 5, multiple types" EXACT [OMIM:617540]
xref: DOID:0112008 {source="MONDO:equivalentTo"}
xref: MEDGEN:1615593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617540 {source="MONDO:equivalentTo"}
xref: UMLS:C4539685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615593"}
is_a: MONDO:0017824 {source="OMIM:617540"} ! familial isolated pituitary adenoma

[Term]
id: MONDO:0054602
name: gaze palsy, familial horizontal, with progressive scoliosis, 2
subset: gard_rare {source="GARD:16234", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "gaze palsy, familial horizontal, with progressive scoliosis, 2" EXACT [OMIM:617542]
synonym: "HGPPS2" RELATED ABBREVIATION [OMIM:617542]
xref: GARD:16234 {source="MONDO:GARD"}
xref: MEDGEN:1393733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617542 {source="MONDO:equivalentTo"}
xref: UMLS:C4479640 {source="MEDGEN:1393733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011810 {source="OMIM:617542"} ! horizontal gaze palsy with progressive scoliosis

[Term]
id: MONDO:0054615
name: spermatogenic failure 18
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18402", source="MONDO:GARD"}
subset: rare
synonym: "spermatogenic failure 18" EXACT [OMIM:617576]
synonym: "SPGF18" RELATED ABBREVIATION [OMIM:617576]
xref: DOID:0070165 {source="MONDO:equivalentTo"}
xref: GARD:18402 {source="MONDO:GARD"}
xref: MEDGEN:1617309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617576 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:617576"}
xref: UMLS:C4539783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617309"}
is_a: MONDO:0004983 {source="OMIM:617576"} ! spermatogenic failure

[Term]
id: MONDO:0054636
name: Skraban-Deardorff syndrome
subset: gard_rare {source="GARD:17953", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:153230"}
subset: ordo_disorder {source="Orphanet:513456"}
subset: orphanet_rare {source="Orphanet:513456"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" RELATED [OMIM:617616]
synonym: "SKDEAS" RELATED ABBREVIATION [OMIM:617616]
synonym: "Skraban-Deardorff syndrome" EXACT [OMIM:617616]
synonym: "WDR26-Related Disorder" EXACT [NORD:153230]
xref: GARD:17953 {source="MONDO:GARD"}
xref: MEDGEN:1627555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:153230 {source="MONDO:NORD"}
xref: OMIM:617616 {source="Orphanet:513456", source="MONDO:equivalentTo"}
xref: Orphanet:513456 {source="MONDO:equivalentTo"}
xref: UMLS:C4539927 {source="MEDGEN:1627555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:513456"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0054637
name: Noonan syndrome-like disorder with loose anagen hair 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Noonan syndrome-like disorder with loose anagen hair 1" EXACT CLINGEN_LABEL [OMIM:607721]
synonym: "Noonan syndrome-like with loose anagen hair 1" EXACT [OMIM:607721, OMIM:genemap2]
synonym: "NSLH" BROAD ABBREVIATION [OMIM:607721]
synonym: "NSLH1" EXACT ABBREVIATION [OMIM:607721]
synonym: "Tosti syndrome" RELATED [OMIM:607721]
xref: DOID:0080692 {source="MONDO:equivalentTo"}
xref: MEDGEN:1379805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176939 {source="MONDO:equivalentTo"}
xref: OMIM:607721 {source="MONDO:equivalentTo"}
xref: Orphanet:2701 {source="OMIM:607721"}
xref: UMLS:C4478716 {source="MEDGEN:1379805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010908 {source="OMIM:607721"} ! loose anagen syndrome
is_a: MONDO:0011899 {source="OMIM:607721"} ! Noonan syndrome-like disorder with loose anagen hair
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15454 {source="MONDO:mim2gene_medgen"} ! SHOC2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054654
name: combined oxidative phosphorylation deficiency 32
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 32" EXACT [OMIM:617664]
synonym: "COXPD32" RELATED ABBREVIATION [OMIM:617664]
xref: DOID:0111492 {source="MONDO:equivalentTo"}
xref: MEDGEN:1617600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617664 {source="MONDO:equivalentTo"}
xref: UMLS:C4540029 {source="MEDGEN:1617600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:617664"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0054665
name: pituitary adenoma 3, multiple types
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PITA3" RELATED ABBREVIATION [OMIM:617686]
synonym: "pituitary adenoma 3, multiple types" EXACT [OMIM:617686]
synonym: "pituitary adenoma 3, multiple types, somatic" EXACT [OMIM:617686, OMIM:genemap2]
xref: DOID:0112010 {source="MONDO:equivalentTo"}
xref: MEDGEN:1620824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617686 {source="MONDO:equivalentTo"}
xref: UMLS:C4540135 {source="MEDGEN:1620824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017824 {source="OMIM:617686"} ! familial isolated pituitary adenoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054666
name: ovarian dysgenesis 5
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ODG5" RELATED ABBREVIATION [OMIM:617690]
synonym: "ovarian dysgenesis 5" EXACT [OMIM:617690]
xref: DOID:0080497 {source="MONDO:equivalentTo"}
xref: MEDGEN:1627972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617690 {source="MONDO:equivalentTo"}
xref: UMLS:C4540141 {source="MEDGEN:1627972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009299 {source="OMIM:617690"} ! 46 XX gonadal dysgenesis

[Term]
id: MONDO:0054669
name: pontocerebellar hypoplasia, type 11
subset: gard_rare {source="GARD:18029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:611247"}
subset: orphanet_rare {source="Orphanet:611247"}
subset: rare
synonym: "PCH11" EXACT ABBREVIATION [OMIM:617695, Orphanet:611247]
synonym: "Pontocerebellar hypoplasia due to TBC1D23" EXACT [Orphanet:611247]
synonym: "pontocerebellar hypoplasia, type 11" EXACT [OMIM:617695]
xref: DOID:0112324 {source="MONDO:equivalentTo"}
xref: GARD:18029 {source="MONDO:GARD"}
xref: MEDGEN:1627627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617695 {source="MONDO:equivalentTo"}
xref: Orphanet:611247 {source="MONDO:equivalentTo"}
xref: UMLS:C4540164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1627627"}
is_a: MONDO:0020135 {source="OMIM:617695"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0054677
name: combined oxidative phosphorylation deficiency 33
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 33" EXACT [OMIM:617713]
synonym: "COXPD33" RELATED ABBREVIATION [OMIM:617713]
xref: DOID:0111495 {source="MONDO:equivalentTo"}
xref: MEDGEN:1623699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C174440 {source="MONDO:equivalentTo"}
xref: OMIM:617713 {source="MONDO:equivalentTo"}
xref: UMLS:C4540209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1623699"}
is_a: MONDO:0000732 {source="OMIM:617713"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0054680
name: epiphyseal dysplasia, multiple, 7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:647676"}
subset: orphanet_rare {source="Orphanet:647676"}
subset: rare
synonym: "EDM7" RELATED ABBREVIATION [OMIM:617719]
synonym: "epiphyseal dysplasia, multiple, 7" EXACT [OMIM:617719]
synonym: "multiple epiphyseal dysplasia 7" RELATED [DOID:0070302]
synonym: "multiple epiphyseal dysplasia type 7" EXACT [Orphanet:647676]
xref: DOID:0070302 {source="MONDO:equivalentTo"}
xref: MEDGEN:1620874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617719 {source="MONDO:equivalentTo"}
xref: Orphanet:647676 {source="MONDO:equivalentTo"}
xref: UMLS:C4540251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620874"}
is_a: MONDO:0016648 {source="OMIM:617719"} ! multiple epiphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0054691
name: immunodeficiency, common variable, 14
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CVID14" RELATED ABBREVIATION [OMIM:617765]
synonym: "immunodeficiency, COMMON variable, 14" RELATED [OMIM:617765]
synonym: "immunodeficiency, common variable, 14" EXACT CLINGEN_LABEL []
xref: DOID:0081156 {source="MONDO:equivalentTo"}
xref: MEDGEN:1614928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617765 {source="MONDO:equivalentTo"}
xref: UMLS:C4540380 {source="MEDGEN:1614928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015517 {source="OMIM:617765"} ! common variable immunodeficiency

[Term]
id: MONDO:0054695
name: myopathy, centronuclear, 6, with fiber-type disproportion
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16250", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "centronuclear myopathy 6 with fiber-type disproportion" EXACT [OMIM:617760, OMIM:genemap2]
synonym: "CNM6" RELATED ABBREVIATION [OMIM:617760]
synonym: "myopathy, centronuclear, 6, with FIBER-type disproportion" RELATED [OMIM:617760]
synonym: "myopathy, centronuclear, 6, with fiber-type disproportion" EXACT CLINGEN_LABEL []
xref: DOID:0111221 {source="MONDO:equivalentTo"}
xref: GARD:16250 {source="MONDO:GARD"}
xref: MEDGEN:1627492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617760 {source="MONDO:equivalentTo"}
xref: Orphanet:2020 {source="OMIM:617760"}
xref: UMLS:C4540345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1627492"}
is_a: MONDO:0018947 {source="OMIM:617760"} ! centronuclear myopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054696
name: immunodeficiency 53
subset: clingen {source="MONDO:CLINGEN"}
synonym: "IMD53" RELATED ABBREVIATION [OMIM:617585]
synonym: "immunodeficiency 53" EXACT [OMIM:617585]
xref: DOID:0111992 {source="MONDO:equivalentTo"}
xref: MEDGEN:1612104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617585 {source="MONDO:equivalentTo"}
xref: UMLS:C4539811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1612104"}
is_a: MONDO:0021094 {source="OMIM:617585"} ! immunodeficiency disease

[Term]
id: MONDO:0054697
name: immunodeficiency 11b with atopic dermatitis
subset: clingen {source="MONDO:CLINGEN"}
synonym: "atopic dermatitis, elevated IgE, and eosinophilia" RELATED [OMIM:617638]
synonym: "IMD11B" RELATED ABBREVIATION [OMIM:617638]
synonym: "immunodeficiency 11B with ATOPIC dermatitis" RELATED [OMIM:617638]
xref: DOID:0111958 {source="MONDO:equivalentTo"}
xref: MEDGEN:1627819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176630 {source="MONDO:equivalentTo"}
xref: OMIM:617638 {source="MONDO:equivalentTo"}
xref: UMLS:C4539957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1627819"}
is_a: MONDO:0021094 {source="OMIM:617638"} ! immunodeficiency disease

[Term]
id: MONDO:0054698
name: proteasome-associated autoinflammatory syndrome 1
subset: gard_rare {source="GARD:3916", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" RELATED [OMIM:256040]
synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" RELATED [OMIM:256040]
synonym: "JMP syndrome" RELATED [OMIM:256040]
synonym: "joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" RELATED [OMIM:256040]
synonym: "Nakajo-Nishimura syndrome" RELATED [OMIM:256040]
synonym: "PRAAS1" EXACT ABBREVIATION [OMIM:256040]
synonym: "proteasome-associated autoinflammatory syndrome 1" EXACT [OMIM:256040]
synonym: "proteasome-associated autoinflammatory syndrome 1 and digenic forms" EXACT [OMIM:256040, OMIM:genemap2]
synonym: "proteasome-associated autoinflammatory syndrome 1, digenic" RELATED [OMIM:256040]
xref: GARD:3916 {source="MONDO:GARD"}
xref: MEDGEN:1648310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C176619 {source="MONDO:equivalentTo"}
xref: OMIM:256040 {source="MONDO:equivalentTo"}
xref: Orphanet:2615 {source="OMIM:256040"}
xref: Orphanet:324977 {source="OMIM:256040"}
xref: Orphanet:324999 {source="OMIM:256040"}
xref: Orphanet:325004 {source="OMIM:256040"}
xref: UMLS:C4746851 {source="MEDGEN:1648310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009726 {source="OMIM:256040"} ! proteosome-associated autoinflammatory syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9545 {source="MONDO:mim2gene_medgen"} ! PSMB8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054699
name: proteasome-associated autoinflammatory syndrome 3
subset: gard_rare {source="GARD:18446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PRAAS3" RELATED ABBREVIATION [OMIM:617591]
synonym: "proteasome-associated autoinflammatory syndrome 3" EXACT [OMIM:617591]
synonym: "proteasome-associated autoinflammatory syndrome 3 and digenic forms" EXACT [OMIM:617591, OMIM:genemap2]
synonym: "proteasome-associated autoinflammatory syndrome 3, digenic" RELATED [OMIM:617591]
xref: DOID:0060916 {source="MONDO:equivalentTo"}
xref: GARD:18446 {source="MONDO:GARD"}
xref: MEDGEN:1648456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617591 {source="MONDO:equivalentTo"}
xref: UMLS:C4747850 {source="MEDGEN:1648456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009726 {source="OMIM:617591"} ! proteosome-associated autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054700
name: proteasome-associated autoinflammatory syndrome 2
subset: gard_rare {source="GARD:18447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PRAAS2" RELATED ABBREVIATION [OMIM:618048]
synonym: "proteasome-associated autoinflammatory syndrome 2" EXACT [OMIM:618048]
xref: DOID:0060914 {source="MONDO:equivalentTo"}
xref: GARD:18447 {source="MONDO:GARD"}
xref: MEDGEN:1648482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618048 {source="MONDO:equivalentTo"}
xref: UMLS:C4747989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648482"}
is_a: MONDO:0009726 {source="OMIM:618048"} ! proteosome-associated autoinflammatory syndrome

[Term]
id: MONDO:0054701
name: Kleefstra syndrome 2
subset: gard_rare {source="GARD:18382", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Kleefstra syndrome 2" EXACT [OMIM:617768]
synonym: "KLEFS2" RELATED ABBREVIATION [OMIM:617768]
xref: DOID:0080598 {source="MONDO:equivalentTo"}
xref: GARD:18382 {source="MONDO:GARD"}
xref: MEDGEN:1623903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617768 {source="MONDO:equivalentTo"}
xref: Orphanet:261652 {source="OMIM:617768"}
xref: UMLS:C4540395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1623903"}
is_a: MONDO:0012455 {source="OMIM:617768"} ! Kleefstra syndrome

[Term]
id: MONDO:0054708
name: retinitis pigmentosa 80
subset: gard_rare {source="GARD:16252", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RETINITIS pigmentosa 80" RELATED [OMIM:617781]
synonym: "RP80" RELATED ABBREVIATION [OMIM:617781]
xref: GARD:16252 {source="MONDO:GARD"}
xref: MEDGEN:1619674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617781 {source="MONDO:equivalentTo"}
xref: Orphanet:791 {source="OMIM:617781"}
xref: UMLS:C4540439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1619674"}
is_a: MONDO:0019200 {source="OMIM:617781"} ! retinitis pigmentosa
is_a: MONDO:0100509 {source="https://clinicalgenome.org/affiliation/40072/"} ! IFT140-related recessive ciliopathy

[Term]
id: MONDO:0054716
name: microcephaly 19, primary, autosomal recessive
subset: gard_rare {source="GARD:16253", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH19" RELATED ABBREVIATION [OMIM:617800]
synonym: "microcephaly 19, PRIMARY, autosomal recessive" RELATED [OMIM:617800]
synonym: "primary autosomal recessive microcephaly 19" RELATED [DOID:0070281]
xref: DOID:0070281 {source="MONDO:equivalentTo"}
xref: GARD:16253 {source="MONDO:GARD"}
xref: MEDGEN:1616860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617800 {source="MONDO:equivalentTo"}
xref: UMLS:C4540488 {source="MEDGEN:1616860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="OMIM:617800"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0054722
name: geleophysic dysplasia 3
subset: gard_rare {source="GARD:16255", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GELEOPHYSIC dysplasia 3" RELATED [OMIM:617809]
synonym: "GPHYSD3" RELATED ABBREVIATION [OMIM:617809]
xref: DOID:0111727 {source="MONDO:equivalentTo"}
xref: GARD:16255 {source="MONDO:GARD"}
xref: MEDGEN:1615724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617809 {source="MONDO:equivalentTo"}
xref: Orphanet:2623 {source="OMIM:617809"}
xref: UMLS:C4540511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615724"}
is_a: MONDO:0000127 {source="OMIM:617809"} ! geleophysic dysplasia
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0054723
name: spermatogenic failure 19
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18403", source="MONDO:GARD"}
subset: rare
synonym: "spermatogenic failure 19" EXACT [OMIM:617592]
synonym: "SPGF19" RELATED ABBREVIATION [OMIM:617592]
xref: DOID:0070170 {source="MONDO:equivalentTo"}
xref: GARD:18403 {source="MONDO:GARD"}
xref: MEDGEN:1614356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617592 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:617592"}
xref: UMLS:C4539818 {source="MEDGEN:1614356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:617592"} ! spermatogenic failure

[Term]
id: MONDO:0054724
name: spermatogenic failure 20
subset: gard_rare {source="GARD:18404", source="MONDO:GARD"}
subset: rare
synonym: "spermatogenic failure 20" EXACT [OMIM:617593]
synonym: "SPGF20" RELATED ABBREVIATION [OMIM:617593]
xref: DOID:0070166 {source="MONDO:equivalentTo"}
xref: GARD:18404 {source="MONDO:GARD"}
xref: MEDGEN:1621256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617593 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:617593"}
xref: UMLS:C4539824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621256"}
is_a: MONDO:0004983 {source="OMIM:617593"} ! spermatogenic failure

[Term]
id: MONDO:0054725
name: spermatogenic failure 21
synonym: "spermatogenic failure 21" EXACT [OMIM:617644]
synonym: "SPGF21" RELATED ABBREVIATION [OMIM:617644]
xref: DOID:0070163 {source="MONDO:equivalentTo"}
xref: MEDGEN:1617056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617644 {source="MONDO:equivalentTo"}
xref: UMLS:C4539991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617056"}
is_a: MONDO:0004983 {source="OMIM:617644"} ! spermatogenic failure

[Term]
id: MONDO:0054726
name: spermatogenic failure 22
subset: gard_rare {source="GARD:16245", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spermatogenic failure 22" EXACT [OMIM:617706]
synonym: "SPGF22" RELATED ABBREVIATION [OMIM:617706]
xref: DOID:0070177 {source="MONDO:equivalentTo"}
xref: GARD:16245 {source="MONDO:GARD"}
xref: MEDGEN:1618089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617706 {source="MONDO:equivalentTo"}
xref: Orphanet:399805 {source="OMIM:617706"}
xref: UMLS:C4540179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618089"}
is_a: MONDO:0004983 {source="OMIM:617706"} ! spermatogenic failure

[Term]
id: MONDO:0054727
name: spermatogenic failure 23
subset: gard_rare {source="GARD:16246", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spermatogenic failure 23" EXACT [OMIM:617707]
synonym: "SPGF23" RELATED ABBREVIATION [OMIM:617707]
xref: DOID:0070181 {source="MONDO:equivalentTo"}
xref: GARD:16246 {source="MONDO:GARD"}
xref: MEDGEN:1626589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617707 {source="MONDO:equivalentTo"}
xref: UMLS:C4540185 {source="MONDO:equivalentTo", source="MEDGEN:1626589", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:617707"} ! spermatogenic failure

[Term]
id: MONDO:0054728
name: spermatogenic failure 24
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure 24" EXACT [OMIM:617959]
synonym: "SPGF24" RELATED ABBREVIATION [OMIM:617959]
xref: DOID:0111929 {source="MONDO:equivalentTo"}
xref: MEDGEN:1646063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617959 {source="MONDO:equivalentTo"}
xref: UMLS:C4693751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646063"}
is_a: MONDO:0004983 {source="OMIM:617959"} ! spermatogenic failure

[Term]
id: MONDO:0054729
name: spermatogenic failure 25
subset: gard_rare {source="GARD:16274", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spermatogenic failure 25" EXACT [OMIM:617960]
synonym: "SPGF25" RELATED ABBREVIATION [OMIM:617960]
xref: DOID:0111920 {source="MONDO:equivalentTo"}
xref: GARD:16274 {source="MONDO:GARD"}
xref: MEDGEN:1646677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617960 {source="MONDO:equivalentTo"}
xref: Orphanet:399805 {source="OMIM:617960"}
xref: UMLS:C4693765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646677"}
is_a: MONDO:0004983 {source="OMIM:617960"} ! spermatogenic failure

[Term]
id: MONDO:0054730
name: spermatogenic failure 26
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure 26" EXACT [OMIM:617961]
synonym: "SPGF26" RELATED ABBREVIATION [OMIM:617961]
xref: DOID:0111924 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617961 {source="MONDO:equivalentTo"}
xref: UMLS:C4693773 {source="MEDGEN:1644751", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:617961"} ! spermatogenic failure

[Term]
id: MONDO:0054731
name: spermatogenic failure 27
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18405", source="MONDO:GARD"}
subset: rare
synonym: "spermatogenic failure 27" EXACT [OMIM:617965]
synonym: "SPGF27" RELATED ABBREVIATION [OMIM:617965]
xref: DOID:0111928 {source="MONDO:equivalentTo"}
xref: GARD:18405 {source="MONDO:GARD"}
xref: MEDGEN:1634748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617965 {source="MONDO:equivalentTo"}
xref: Orphanet:276234 {source="OMIM:617965"}
xref: UMLS:C4693784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634748"}
is_a: MONDO:0004983 {source="OMIM:617965"} ! spermatogenic failure

[Term]
id: MONDO:0054732
name: spermatogenic failure 28
subset: gard_rare {source="GARD:16290", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "spermatogenic failure 28" EXACT [OMIM:618086]
synonym: "SPGF28" RELATED ABBREVIATION [OMIM:618086]
xref: DOID:0111916 {source="MONDO:equivalentTo"}
xref: GARD:16290 {source="MONDO:GARD"}
xref: MEDGEN:1648494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618086 {source="MONDO:equivalentTo"}
xref: UMLS:C4748117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648494"}
is_a: MONDO:0004983 {source="OMIM:618086"} ! spermatogenic failure

[Term]
id: MONDO:0054733
name: spermatogenic failure 29
subset: otar {source="MONDO:OTAR"}
synonym: "spermatogenic failure 29" EXACT [OMIM:618091]
synonym: "SPGF29" RELATED ABBREVIATION [OMIM:618091]
xref: DOID:0111930 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618091 {source="MONDO:equivalentTo"}
xref: UMLS:C4748142 {source="MEDGEN:1648499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:618091"} ! spermatogenic failure

[Term]
id: MONDO:0054736
name: mosaic variegated aneuploidy syndrome 3
subset: gard_rare {source="GARD:16240", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MOSAIC variegated aneuploidy syndrome 3" RELATED [OMIM:617598]
synonym: "MVA3" RELATED ABBREVIATION [OMIM:617598]
xref: DOID:0080689 {source="MONDO:equivalentTo"}
xref: GARD:16240 {source="MONDO:GARD"}
xref: MEDGEN:1616382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617598 {source="MONDO:equivalentTo"}
xref: Orphanet:1052 {source="OMIM:617598"}
xref: UMLS:C4539839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616382"}
is_a: MONDO:0000141 {source="OMIM:617598"} ! mosaic variegated aneuploidy syndrome
relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic

[Term]
id: MONDO:0054737
name: Fraser syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cryptophthalmos with Other malformations" RELATED [OMIM:219000]
synonym: "cryptophthalmos-syndactyly syndrome" RELATED [OMIM:219000]
synonym: "Fraser syndrome" RELATED [OMIM:219000]
synonym: "Fraser syndrome 1" EXACT [OMIM:219000]
synonym: "FRASRS1" RELATED ABBREVIATION [OMIM:219000]
xref: DOID:0111405 {source="MONDO:equivalentTo"}
xref: MEDGEN:1639061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:219000 {source="MONDO:equivalentTo"}
xref: Orphanet:2052 {source="OMIM:219000"}
xref: UMLS:C4551480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639061"}
is_a: MONDO:0009046 {source="OMIM:219000"} ! Fraser syndrome

[Term]
id: MONDO:0054738
name: Fraser syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fraser syndrome 2" EXACT [OMIM:617666]
synonym: "FRASRS2" RELATED ABBREVIATION [OMIM:617666]
xref: DOID:0111407 {source="MONDO:equivalentTo"}
xref: MEDGEN:1624349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617666 {source="MONDO:equivalentTo"}
xref: Orphanet:2052 {source="OMIM:617666"}
xref: UMLS:C4540036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1624349"}
is_a: MONDO:0009046 {source="OMIM:617666"} ! Fraser syndrome

[Term]
id: MONDO:0054739
name: Fraser syndrome 3
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Fraser syndrome 3" EXACT [OMIM:617667]
synonym: "FRASRS3" RELATED ABBREVIATION [OMIM:617667]
xref: DOID:0111406 {source="MONDO:equivalentTo"}
xref: MEDGEN:1621907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617667 {source="MONDO:equivalentTo"}
xref: Orphanet:2052 {source="OMIM:617667"}
xref: UMLS:C4540040 {source="MEDGEN:1621907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009046 {source="OMIM:617667"} ! Fraser syndrome

[Term]
id: MONDO:0054740
name: blepharocheilodontic syndrome 1
def: "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BCD syndrome" RELATED [OMIM:119580]
synonym: "BCDS1" RELATED ABBREVIATION [OMIM:119580]
synonym: "blepharo-cheilo-odontic syndrome caused by mutation in CDH1" EXACT []
synonym: "blepharocheilodontic syndrome" RELATED [OMIM:119580]
synonym: "blepharocheilodontic syndrome 1" EXACT [OMIM:119580]
synonym: "CDH1 blepharo-cheilo-odontic syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "clefting, ectropion, and conical teeth" RELATED [OMIM:119580]
synonym: "ectropion, Inferior, with cleft 51P and/Or palate" RELATED [OMIM:119580]
synonym: "elschnig syndrome" RELATED [OMIM:119580]
synonym: "Lagophthalmia with bilateral cleft 51P and palate" RELATED [OMIM:119580]
xref: DOID:0080345 {source="MONDO:equivalentTo"}
xref: MEDGEN:1632198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:119580 {source="DOID:0080345", source="MONDO:equivalentTo"}
xref: Orphanet:1997 {source="OMIM:119580"}
xref: UMLS:C4551988 {source="MEDGEN:1632198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007339 {source="DOID:0080345", source="OMIM:119580"} ! blepharocheilodontic syndrome
intersection_of: MONDO:0007339 ! blepharocheilodontic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 ! CDH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 {source="MONDO:mim2gene_medgen"} ! CDH1

[Term]
id: MONDO:0054741
name: combined oxidative phosphorylation deficiency 34
subset: gard_rare {source="GARD:17799", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:457223"}
subset: orphanet_rare {source="Orphanet:457223"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 34" EXACT [OMIM:617872]
synonym: "COXPD34" RELATED ABBREVIATION [OMIM:617872]
synonym: "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" EXACT [Orphanet:457223]
synonym: "syndromic sensorineural deafness due to COXPD" EXACT [Orphanet:457223]
synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [Orphanet:457223]
xref: DOID:0111497 {source="MONDO:equivalentTo"}
xref: GARD:17799 {source="MONDO:GARD"}
xref: ICD10CM:G31.8 {source="Orphanet:457223/attributed", source="Orphanet:457223/ntbt", source="Orphanet:457223"}
xref: MEDGEN:1631307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617872 {source="MONDO:equivalentTo"}
xref: Orphanet:457223 {source="MONDO:equivalentTo", source="OMIM:617872"}
xref: UMLS:C4693450 {source="MEDGEN:1631307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:617872"} ! combined oxidative phosphorylation deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6910" xsd:anyURI

[Term]
id: MONDO:0054742
name: combined oxidative phosphorylation deficiency 35
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 35" EXACT [OMIM:617873]
synonym: "COXPD35" RELATED ABBREVIATION [OMIM:617873]
xref: DOID:0111464 {source="MONDO:equivalentTo"}
xref: MEDGEN:1639653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617873 {source="MONDO:equivalentTo"}
xref: UMLS:C4693466 {source="MEDGEN:1639653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:617873"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0054743
name: polycystic liver disease 3 with or without kidney cysts
def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PCLD3" RELATED ABBREVIATION [OMIM:617874]
synonym: "polycystic liver disease 3 with or without kidney cysts" EXACT CLINGEN_LABEL [OMIM:617874]
xref: MEDGEN:1646969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617874 {source="MONDO:equivalentTo"}
xref: UMLS:C4693472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646969"}
is_a: MONDO:0000447 {source="OMIM:617874"} ! autosomal dominant polycystic liver disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23161 {source="OMIM:617874"} ! ALG8

[Term]
id: MONDO:0054748
name: Fanconi anemia, complementation group S
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16264", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Fanconi anemia, complementation GROUP S" RELATED [OMIM:617883]
synonym: "Fanconi anemia, complementation group S" EXACT CLINGEN_LABEL []
synonym: "FANCS" RELATED ABBREVIATION [OMIM:617883]
xref: GARD:16264 {source="MONDO:GARD"}
xref: MEDGEN:1632414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617883 {source="MONDO:equivalentTo"}
xref: Orphanet:84 {source="OMIM:617883"}
xref: UMLS:C4554406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632414"}
is_a: MONDO:0019391 {source="OMIM:617883"} ! Fanconi anemia

[Term]
id: MONDO:0054749
name: obsolete body mass index quantitative trait locus 19
synonym: "BMIQ19" RELATED ABBREVIATION [OMIM:617885]
synonym: "body MASS index quantitative trait locus 19" RELATED [OMIM:617885]
synonym: "obesity, Susceptibility to" RELATED [OMIM:617885]
synonym: "obesity, susceptibility to, BMIQ19" EXACT [OMIM:617885, OMIM:genemap2]
xref: OMIM:617885 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0054750
name: amyotrophic lateral sclerosis, susceptibility to, 24
subset: clingen {source="MONDO:CLINGEN"}
subset: predisposition
synonym: "ALS24" RELATED ABBREVIATION [OMIM:617892]
synonym: "amyotrophic lateral sclerosis, susceptibility to, 24" EXACT [OMIM:617892]
xref: DOID:0081378 {source="MONDO:equivalentTo"}
xref: MEDGEN:1632999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617892 {source="MONDO:equivalentTo"}
xref: UMLS:C4693523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632999"}
is_a: MONDO:0020573 {source="OMIM:617892", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0005144 {source="OMIM:617892", source="https://orcid.org/0000-0001-5208-3432"} ! familial amyotrophic lateral sclerosis
relationship: predisposes_towards MONDO:0005144 {source="OMIM:617892"} ! familial amyotrophic lateral sclerosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0054752
name: multiple synostoses syndrome 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "multiple synostoses syndrome 4" EXACT [OMIM:617898]
synonym: "SYNS4" RELATED ABBREVIATION [OMIM:617898]
xref: DOID:0081320 {source="MONDO:equivalentTo"}
xref: MEDGEN:1638842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617898 {source="MONDO:equivalentTo"}
xref: UMLS:C4693531 {source="MEDGEN:1638842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017923 {source="OMIM:617898"} ! multiple synostoses syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0054754
name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
subset: predisposition
synonym: "encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8" RELATED [OMIM:617900]
synonym: "Herpes simplex encephalitis, Susceptibility to, 6" RELATED [OMIM:617900]
synonym: "IIAE8" RELATED ABBREVIATION [OMIM:617900]
xref: MEDGEN:1646997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617900 {source="MONDO:equivalentTo"}
xref: Orphanet:1930 {source="OMIM:617900"}
xref: UMLS:C4693542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646997"}
is_a: MONDO:0800174 {source="OMIM:617900"} ! encephalitis, acute, infection-induced, susceptibility to
relationship: has_characteristic PATO:0000389 ! acute
relationship: predisposes_towards MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0054761
name: microcephaly 20, primary, autosomal recessive
subset: gard_rare {source="GARD:16268", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH20" RELATED ABBREVIATION [OMIM:617914]
synonym: "microcephaly 20, PRIMARY, autosomal recessive" RELATED [OMIM:617914]
xref: GARD:16268 {source="MONDO:GARD"}
xref: MEDGEN:1641618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617914 {source="MONDO:equivalentTo"}
xref: Orphanet:2512 {source="OMIM:617914"}
xref: UMLS:C4693572 {source="MEDGEN:1641618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="OMIM:617914"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0054763
name: neurodegeneration with brain iron accumulation 7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "NBIA7" RELATED ABBREVIATION [OMIM:617916]
synonym: "neurodegeneration with brain iron accumulation 7" EXACT [OMIM:617916]
xref: MEDGEN:1647672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617916 {source="MONDO:equivalentTo"}
xref: UMLS:C4693583 {source="MEDGEN:1647672", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018307 {source="OMIM:617916"} ! neurodegeneration with brain iron accumulation

[Term]
id: MONDO:0054764
name: neurodegeneration with brain iron accumulation 8
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NBIA8" RELATED ABBREVIATION [OMIM:617917]
synonym: "neurodegeneration with brain iron accumulation 8" EXACT [OMIM:617917]
xref: MEDGEN:1645224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617917 {source="MONDO:equivalentTo"}
xref: UMLS:C4693587 {source="MEDGEN:1645224", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018307 {source="OMIM:617917"} ! neurodegeneration with brain iron accumulation

[Term]
id: MONDO:0054765
name: amyloidosis, primary localized cutaneous, 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "amyloidosis cutis dyschromica" RELATED [OMIM:617920]
synonym: "amyloidosis, PRIMARY LOCALIZED cutaneous, 3" RELATED [OMIM:617920]
synonym: "PLCA3" RELATED ABBREVIATION [OMIM:617920]
xref: MEDGEN:1640641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617920 {source="MONDO:equivalentTo"}
xref: Orphanet:319635 {source="OMIM:617920"}
xref: UMLS:C4554421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640641"}
is_a: MONDO:0007101 {source="OMIM:617920"} ! familial primary localized cutaneous amyloidosis

[Term]
id: MONDO:0054770
name: orofaciodigital syndrome 18
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "OFD18" RELATED ABBREVIATION [OMIM:617927]
synonym: "Ofds 18" RELATED [OMIM:617927]
synonym: "oral-Facial-digital syndrome, type 18" RELATED [OMIM:617927]
synonym: "orofaciodigital syndrome XVIII" RELATED [OMIM:617927]
xref: DOID:0060961 {source="MONDO:equivalentTo"}
xref: MEDGEN:1799326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617927 {source="MONDO:equivalentTo"}
xref: UMLS:C5567903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799326"}
is_a: MONDO:0015375 {source="https://orcid.org/0000-0001-5208-3432"} ! orofaciodigital syndrome

[Term]
id: MONDO:0054771
name: keratoconus 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "keratoconus 9" EXACT [OMIM:617928]
synonym: "KTCN9" RELATED ABBREVIATION [OMIM:617928]
xref: MEDGEN:1645093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617928 {source="MONDO:equivalentTo"}
xref: UMLS:C4693660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645093"}
is_a: MONDO:0015486 {source="OMIM:617928"} ! keratoconus

[Term]
id: MONDO:0054776
name: epilepsy, familial focal, with variable foci 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, FAMILIAL focal, with variable foci 4" RELATED [OMIM:617935]
synonym: "FFEVF4" RELATED ABBREVIATION [OMIM:617935]
xref: DOID:0081424 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617935 {source="MONDO:equivalentTo"}
xref: UMLS:C4693694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644614"}
is_a: MONDO:0020310 {source="OMIM:617935"} ! familial focal epilepsy with variable foci

[Term]
id: MONDO:0054780
name: elliptocytosis 3
subset: gard_rare {source="GARD:16273", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "anemia, neonatal hemolytic, fatal or near-fatal" EXACT [OMIM:617948, OMIM:genemap2]
synonym: "anemia, perinatal hemolytic, fatal or near-fatal" RELATED [OMIM:617948]
synonym: "EL3" RELATED ABBREVIATION [OMIM:617948]
synonym: "elliptocytosis 3" EXACT [OMIM:617948]
synonym: "elliptocytosis-3" EXACT [OMIM:617948, OMIM:genemap2]
xref: GARD:16273 {source="MONDO:GARD"}
xref: MEDGEN:357139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566678 {source="MONDO:equivalentTo"}
xref: OMIM:617948 {source="MONDO:equivalentTo"}
xref: Orphanet:288 {source="OMIM:617948"}
xref: UMLS:C1866810 {source="MEDGEN:357139", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017319 ! hereditary elliptocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054781
name: combined oxidative phosphorylation deficiency 36
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "combined oxidative phosphorylation deficiency 36" EXACT [OMIM:617950]
synonym: "COXPD36" RELATED ABBREVIATION [OMIM:617950]
xref: DOID:0111482 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617950 {source="MONDO:equivalentTo"}
xref: UMLS:C4693722 {source="MEDGEN:1644927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:617950"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0054782
name: leukodystrophy, hypomyelinating, 15
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLD15" RELATED ABBREVIATION [OMIM:617951]
synonym: "leukodystrophy, hypomyelinating, 15" EXACT [OMIM:617951]
xref: DOID:0070398 {source="MONDO:equivalentTo"}
xref: MEDGEN:1633653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617951 {source="MONDO:equivalentTo"}
xref: UMLS:C4693733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633653"}
is_a: MONDO:0019046 {source="OMIM:617951"} ! leukodystrophy

[Term]
id: MONDO:0054785
name: multiple mitochondrial dysfunctions syndrome 6
subset: gard_rare {source="GARD:18004", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:569290"}
subset: orphanet_rare {source="Orphanet:569290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MMDS6" EXACT ABBREVIATION [OMIM:617954]
synonym: "multiple mitochondrial dysfunctions syndrome 6" EXACT [OMIM:617954]
synonym: "multiple mitochondrial dysfunctions syndrome type 6" EXACT [Orphanet:569290]
synonym: "PMPCB deficiency" EXACT [Orphanet:569290]
xref: DOID:0070332 {source="MONDO:equivalentTo"}
xref: GARD:18004 {source="MONDO:GARD"}
xref: ICD10CM:E88.8 {source="Orphanet:569290", source="MONDO:mondoSubClassOfSource"}
xref: MEDGEN:1643082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617954 {source="Orphanet:569290", source="MONDO:equivalentTo"}
xref: Orphanet:569290 {source="MONDO:equivalentTo"}
xref: UMLS:C4693741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643082"}
is_a: MONDO:0017338 {source="OMIM:617954"} ! fatal multiple mitochondrial dysfunctions syndrome

[Term]
id: MONDO:0054791
name: leukodystrophy, hypomyelinating, 16
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HLD16" RELATED ABBREVIATION [OMIM:617964]
synonym: "leukodystrophy, hypomyelinating, 16" EXACT [OMIM:617964]
xref: DOID:0070405 {source="MONDO:equivalentTo"}
xref: MEDGEN:1631337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617964 {source="MONDO:equivalentTo"}
xref: UMLS:C4693779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631337"}
is_a: MONDO:0019046 {source="OMIM:617964"} ! leukodystrophy

[Term]
id: MONDO:0054794
name: hydrocephalus, congenital, 3, with brain anomalies
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HYC3" RELATED ABBREVIATION [OMIM:617967]
synonym: "hydrocephalus, CONGENITAL, 3, with brain anomalies" RELATED [OMIM:617967]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3" RELATED [OMIM:617967]
synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3, formerly" RELATED [OMIM:617967]
xref: MEDGEN:1648319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617967 {source="MONDO:equivalentTo"}
xref: UMLS:C4747885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648319"}
is_a: MONDO:0016349 ! congenital hydrocephalus
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0054801
name: erythrocytosis, familial, 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ECYT6" RELATED ABBREVIATION [OMIM:617980]
synonym: "erythrocytosis 6" EXACT [OMIM:617980, OMIM:genemap2]
synonym: "erythrocytosis, Beta-globin type" RELATED [OMIM:617980]
synonym: "erythrocytosis, FAMILIAL, 6" RELATED [OMIM:617980]
synonym: "polycythemia, Beta-globin type" RELATED [OMIM:617980]
xref: DOID:0111632 {source="MONDO:equivalentTo"}
xref: MEDGEN:1634191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617980 {source="MONDO:equivalentTo"}
xref: UMLS:C4693822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634191"}
is_a: MONDO:0001115 ! familial polycythemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054802
name: erythrocytosis, familial, 7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ECYT7" RELATED ABBREVIATION [OMIM:617981]
synonym: "erythrocytosis 7" EXACT [OMIM:617981, OMIM:genemap2]
synonym: "erythrocytosis, Alpha-globin type" RELATED [OMIM:617981]
synonym: "erythrocytosis, FAMILIAL, 7" RELATED [OMIM:617981]
synonym: "polycythemia, Alpha-globin type" RELATED [OMIM:617981]
xref: DOID:0111631 {source="MONDO:equivalentTo"}
xref: MEDGEN:1642594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617981 {source="MONDO:equivalentTo"}
xref: UMLS:C4693823 {source="MONDO:equivalentTo", source="MEDGEN:1642594", source="MONDO:MEDGEN"}
is_a: MONDO:0001115 ! familial polycythemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054804
name: microcephaly 21, primary, autosomal recessive
subset: gard_rare {source="GARD:16278", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH21" RELATED ABBREVIATION [OMIM:617983]
synonym: "microcephaly 21, PRIMARY, autosomal recessive" RELATED [OMIM:617983]
xref: GARD:16278 {source="MONDO:GARD"}
xref: MEDGEN:1646916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617983 {source="MONDO:equivalentTo"}
xref: UMLS:C4693831 {source="MEDGEN:1646916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016660 {source="OMIM:617983"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0054805
name: microcephaly 22, primary, autosomal recessive
subset: gard_rare {source="GARD:16279", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH22" RELATED ABBREVIATION [OMIM:617984]
synonym: "microcephaly 22, PRIMARY, autosomal recessive" RELATED [OMIM:617984]
xref: GARD:16279 {source="MONDO:GARD"}
xref: MEDGEN:1635688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617984 {source="MONDO:equivalentTo"}
xref: Orphanet:2512 {source="OMIM:617984"}
xref: UMLS:C4693834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635688"}
is_a: MONDO:0016660 {source="OMIM:617984"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0054806
name: microcephaly 23, primary, autosomal recessive
subset: gard_rare {source="GARD:16280", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MCPH23" RELATED ABBREVIATION [OMIM:617985]
synonym: "microcephaly 23, PRIMARY, autosomal recessive" RELATED [OMIM:617985]
xref: GARD:16280 {source="MONDO:GARD"}
xref: MEDGEN:1631589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617985 {source="MONDO:equivalentTo"}
xref: UMLS:C4693843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631589"}
is_a: MONDO:0016660 {source="OMIM:617985"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0054813
name: Ehlers-Danlos syndrome, classic-like, 2
subset: gard_rare {source="GARD:17975", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:536532"}
subset: orphanet_rare {source="Orphanet:536532"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EDSCLL2" EXACT ABBREVIATION [OMIM:618000]
synonym: "Ehlers-Danlos syndrome, classic-like, 2" EXACT [OMIM:618000]
xref: DOID:0080732 {source="MONDO:equivalentTo"}
xref: GARD:17975 {source="MONDO:GARD"}
xref: MEDGEN:1632001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618000 {source="MONDO:equivalentTo", source="Orphanet:536532"}
xref: Orphanet:536532 {source="MONDO:equivalentTo"}
xref: UMLS:C4693870 {source="MONDO:equivalentTo", source="MEDGEN:1632001", source="MONDO:MEDGEN"}
is_a: MONDO:0020066 {source="OMIM:618000", source="Orphanet:536532"} ! Ehlers-Danlos syndrome
relationship: disease_has_feature HP:0004349 {source="Orphanet:536532"} ! Reduced bone mineral density
relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:536532", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density
relationship: has_characteristic HP:0000007 {source="Orphanet:536532"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/303 {source="OMIM:618000"} ! AEBP1

[Term]
id: MONDO:0054817
name: leukodystrophy, hypomyelinating, 17
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HLD17" RELATED ABBREVIATION [OMIM:618006]
synonym: "leukodystrophy, hypomyelinating, 17" EXACT [OMIM:618006]
xref: DOID:0070404 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618006 {source="MONDO:equivalentTo"}
xref: UMLS:C4693912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644557"}
is_a: MONDO:0019046 {source="OMIM:618006"} ! leukodystrophy

[Term]
id: MONDO:0054831
name: Coffin-Siris syndrome 7
def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene." [MONDO:patterns/OMIM_disease_series_by_gene]
subset: gard_rare {source="GARD:16287", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "COFFIN-SIRIS syndrome 7" RELATED [OMIM:618027]
synonym: "CSS7" RELATED ABBREVIATION [OMIM:618027]
xref: DOID:0112369 {source="MONDO:equivalentTo"}
xref: GARD:16287 {source="MONDO:GARD"}
xref: MEDGEN:1648281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618027 {source="MONDO:equivalentTo"}
xref: UMLS:C4747954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648281"}
is_a: MONDO:0015452 {source="OMIM:618027"} ! Coffin-Siris syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9964 {source="OMIM:618027", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! DPF2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0054832
name: corneal dystrophy, posterior polymorphous, 4
subset: gard_rare {source="GARD:18215", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "corneal dystrophy, POSTERIOR polymorphous, 4" RELATED [OMIM:618031]
synonym: "PPCD4" RELATED ABBREVIATION [OMIM:618031]
xref: DOID:0080669 {source="MONDO:equivalentTo"}
xref: GARD:18215 {source="MONDO:GARD"}
xref: MEDGEN:1648359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618031 {source="MONDO:equivalentTo"}
xref: UMLS:C4747961 {source="MEDGEN:1648359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020364 {source="OMIM:618031"} ! posterior polymorphous corneal dystrophy

[Term]
id: MONDO:0054833
name: charcot-marie-tooth disease, axonal, type 2DD
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17959", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521414"}
subset: orphanet_rare {source="Orphanet:521414"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Charcot-Marie-tooth disease, axonal, type 2DD" RELATED [OMIM:618036]
synonym: "Charcot-Marie-Tooth neuropathy, type 2Dd" RELATED [OMIM:618036]
synonym: "CMT2DD" RELATED ABBREVIATION [OMIM:618036]
xref: DOID:0111558 {source="MONDO:equivalentTo"}
xref: GARD:17959 {source="MONDO:GARD"}
xref: MEDGEN:1648475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618036 {source="Orphanet:521414", source="MONDO:equivalentTo"}
xref: Orphanet:521414 {source="MONDO:equivalentTo"}
xref: UMLS:C4747974 {source="MEDGEN:1648475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="OMIM:618036"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="Orphanet:521414"} ! Charcot-Marie-Tooth disease type 2
relationship: has_characteristic HP:0000006 {source="Orphanet:521414"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/799 {source="Orphanet:521414"} ! ATP1A1

[Term]
id: MONDO:0054835
name: classic dopamine transporter deficiency syndrome
def: "Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay." [PMID:28749637]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "classic DTDS" EXACT ABBREVIATION [GARD:0010484]
synonym: "dopamine transporter deficiency syndrome" RELATED [OMIM:613135]
synonym: "Parkinsonism-dystonia, infantile, 1" EXACT [OMIM:613135]
synonym: "PKDYS" BROAD ABBREVIATION [OMIM:613135]
synonym: "PKDYS1" EXACT ABBREVIATION [OMIM:613135]
xref: DOID:0070489 {source="MONDO:equivalentTo"}
xref: MEDGEN:1814585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129866 {source="MONDO:equivalentTo"}
xref: OMIM:613135 {source="MONDO:equivalentTo"}
xref: Orphanet:238455 {source="OMIM:613135"}
xref: SCTID:722763000 {source="MONDO:equivalentTo"}
xref: UMLS:C5700336 {source="MEDGEN:1814585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013150 {source="OMIM:613135"} ! parkinsonism-dystonia, infantile
is_a: MONDO:0700117 {source="PMID:28749637"} ! SLC6A3-related dopamine transporter deficiency syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11049 {source="MONDO:mim2gene_medgen"} ! SLC6A3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5523" xsd:anyURI

[Term]
id: MONDO:0054836
name: obsolete parkinsonism-dystonia, infantile, 2
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6933" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018130

[Term]
id: MONDO:0054837
name: intellectual disability, autosomal dominant 57
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "intellectual developmental disorder, autosomal dominant 57" EXACT [OMIM:618050, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 57" EXACT [OMIM:618050]
synonym: "mental retardation, autosomal dominant 57" RELATED DEPRECATED [OMIM:618050]
synonym: "MRD57" RELATED DEPRECATED [OMIM:618050]
synonym: "TLK2-related neurodevelopmental disorder" EXACT [PMID:29861108, PMID:31558842, PMID:34821460]
synonym: "TLK2-related syndrome" EXACT [PMID:29861108, PMID:31558842, PMID:34821460]
xref: MEDGEN:1648280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618050 {source="MONDO:equivalentTo"}
xref: UMLS:C4748003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648280"}
is_a: MONDO:0015802 {source="OMIM:618050"} ! autosomal dominant non-syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7256" xsd:anyURI

[Term]
id: MONDO:0054838
name: cardiomyopathy, familial hypertrophic 27
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cardiomyopathy, FAMILIAL hypertrophic 27" RELATED [OMIM:618052]
synonym: "CMH27" RELATED ABBREVIATION [OMIM:618052]
xref: MEDGEN:1648325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618052 {source="MONDO:equivalentTo"}
xref: UMLS:C4748014 {source="MONDO:equivalentTo", source="MEDGEN:1648325", source="MONDO:MEDGEN"}
is_a: MONDO:0024573 {source="OMIM:618052"} ! familial hypertrophic cardiomyopathy

[Term]
id: MONDO:0054842
name: polycystic kidney disease 6 with or without polycystic liver disease
def: "Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DNAJB11 polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "PKD6" RELATED ABBREVIATION [OMIM:618061]
synonym: "polycystic kidney disease 6 with or without polycystic liver disease" EXACT CLINGEN_LABEL [OMIM:618061]
synonym: "polycystic kidney disease caused by mutation in DNAJB11" EXACT []
xref: DOID:0060951 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618061 {source="MONDO:equivalentTo"}
xref: UMLS:C4748044 {source="MEDGEN:1648469", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004691 {source="OMIM:618061"} ! autosomal dominant polycystic kidney disease
intersection_of: MONDO:0020642 ! polycystic kidney disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14889 ! DNAJB11

[Term]
id: MONDO:0054843
name: ciliary dyskinesia, primary, 38
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16288", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CILD38" RELATED ABBREVIATION [OMIM:618063]
synonym: "ciliary dyskinesia, PRIMARY, 38" RELATED [OMIM:618063]
synonym: "ciliary dyskinesia, Primary, 38, with or without situs inversus" RELATED [OMIM:618063]
xref: DOID:0111852 {source="MONDO:equivalentTo"}
xref: GARD:16288 {source="MONDO:GARD"}
xref: MEDGEN:1648465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618063 {source="MONDO:equivalentTo"}
xref: UMLS:C4748052 {source="MEDGEN:1648465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="OMIM:618063"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0054844
name: pontocerebellar hypoplasia, type 1D
subset: gard_rare {source="GARD:16289", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PCH1D" RELATED ABBREVIATION [OMIM:618065]
synonym: "pontocerebellar hypoplasia, type 1D" EXACT [OMIM:618065]
xref: DOID:0112323 {source="MONDO:equivalentTo"}
xref: GARD:16289 {source="MONDO:GARD"}
xref: MEDGEN:1648387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618065 {source="MONDO:equivalentTo"}
xref: UMLS:C4748058 {source="MEDGEN:1648387", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020135 {source="OMIM:618065"} ! pontocerebellar hypoplasia

[Term]
id: MONDO:0054845
name: developmental and epileptic encephalopathy, 66
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE66" EXACT ABBREVIATION [OMIM:618067]
synonym: "developmental and epileptic encephalopathy 66" EXACT [OMIM:618067, OMIM:genemap2]
synonym: "EIEE66" EXACT ABBREVIATION [OMIM:618067]
synonym: "epileptic encephalopathy, early infantile, 66" EXACT [OMIM:618067]
xref: DOID:0080446 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618067 {source="MONDO:equivalentTo"}
xref: UMLS:C4748070 {source="MEDGEN:1648486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:618067"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0054846
name: epilepsy, familial adult myoclonic, 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "benign Adult Familial myoclonic epilepsy 6" RELATED [OMIM:618074]
synonym: "cortical myoclonic tremor with epilepsy, Familial, 6" RELATED [OMIM:618074]
synonym: "epilepsy, FAMILIAL ADULT myoclonic, 6" RELATED [OMIM:618074]
synonym: "FAME6" RELATED ABBREVIATION [OMIM:618074]
xref: DOID:0111696 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618074 {source="MONDO:equivalentTo"}
xref: UMLS:C4748079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648448"}
is_a: MONDO:0000160 {source="OMIM:618074"} ! epilepsy, familial adult myoclonic

[Term]
id: MONDO:0054847
name: epilepsy, familial adult myoclonic, 7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "benign Adult Familial myoclonic epilepsy 7" RELATED [OMIM:618075]
synonym: "cortical myoclonic tremor with epilepsy, Familial, 7" RELATED [OMIM:618075]
synonym: "epilepsy, FAMILIAL ADULT myoclonic, 7" RELATED [OMIM:618075]
synonym: "FAME7" RELATED ABBREVIATION [OMIM:618075]
xref: DOID:0111694 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618075 {source="MONDO:equivalentTo"}
xref: UMLS:C4748080 {source="MONDO:equivalentTo", source="MEDGEN:1648435", source="MONDO:MEDGEN"}
is_a: MONDO:0000160 {source="OMIM:618075"} ! epilepsy, familial adult myoclonic

[Term]
id: MONDO:0054849
name: inflammatory bowel disease 29
synonym: "IBD29" RELATED ABBREVIATION [OMIM:618077]
synonym: "inflammatory bowel disease 29" EXACT [OMIM:618077]
xref: DOID:0112155 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618077 {source="MONDO:equivalentTo"}
xref: UMLS:C4748083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648318"}
is_a: MONDO:0005265 {source="OMIM:618077"} ! inflammatory bowel disease

[Term]
id: MONDO:0054850
name: ovarian dysgenesis 6
subset: gard_rare {source="GARD:18042", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ODG6" RELATED ABBREVIATION [OMIM:618078]
synonym: "ovarian dysgenesis 6" EXACT [OMIM:618078]
xref: DOID:0080498 {source="MONDO:equivalentTo"}
xref: GARD:18042 {source="MONDO:GARD"}
xref: MEDGEN:1648307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618078 {source="MONDO:equivalentTo"}
xref: UMLS:C4748084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648307"}
is_a: MONDO:0009299 ! 46 XX gonadal dysgenesis

[Term]
id: MONDO:0054852
name: peeling skin syndrome 6
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peeling skin syndrome 6" EXACT [OMIM:618084]
synonym: "PSS6" RELATED ABBREVIATION [OMIM:618084]
xref: DOID:0070525 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618084 {source="MONDO:equivalentTo"}
xref: UMLS:C4748093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648406"}
is_a: MONDO:0019347 {source="OMIM:618084"} ! peeling skin syndrome

[Term]
id: MONDO:0054860
name: hearing loss, autosomal recessive 110
subset: gard_rare {source="GARD:18150", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "deafness, autosomal recessive 110" NARROW [OMIM:618094, OMIM:genemap2]
synonym: "DFNB110" NARROW ABBREVIATION [OMIM:618094]
xref: DOID:0111644 {source="MONDO:equivalentTo"}
xref: GARD:18150 {source="MONDO:GARD"}
xref: MEDGEN:1648377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618094 {source="MONDO:equivalentTo"}
xref: UMLS:C4748162 {source="MEDGEN:1648377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019588 {source="OMIM:618094"} ! hearing loss, autosomal recessive
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI

[Term]
id: MONDO:0054861
name: intellectual disability, autosomal recessive 63
subset: gard_rare {source="GARD:16475", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "intellectual disability, autosomal recessive 63" EXACT [OMIM:618095]
synonym: "mental retardation, autosomal recessive 63" RELATED DEPRECATED [OMIM:618095]
synonym: "MRT63" RELATED DEPRECATED [OMIM:618095]
xref: DOID:0081224 {source="MONDO:equivalentTo"}
xref: GARD:16475 {source="MONDO:GARD"}
xref: MEDGEN:1648348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618095 {source="MONDO:equivalentTo"}
xref: UMLS:C4748167 {source="MEDGEN:1648348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0054862
name: premature ovarian failure 15
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "POF15" RELATED ABBREVIATION [OMIM:618096]
synonym: "premature ovarian failure 15" EXACT [OMIM:618096]
xref: DOID:0080872 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618096 {source="MONDO:equivalentTo"}
xref: UMLS:C4748170 {source="MONDO:equivalentTo", source="MEDGEN:1648369", source="MONDO:MEDGEN"}
is_a: MONDO:0003225 {source="PMID:31953710"} ! bone marrow disorder
is_a: MONDO:0019852 {source="OMIM:618096"} ! inherited primary ovarian failure

[Term]
id: MONDO:0054865
name: encephalopathy due to mitochondrial and peroxisomal fission defect
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22192", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:527276"}
subset: orphanet_rare {source="Orphanet:527276"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission" EXACT [OMIMPS:614388]
synonym: "encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
xref: GARD:22192 {source="MONDO:GARD"}
xref: MEDGEN:1814479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:614388 {source="MONDO:equivalentTo"}
xref: Orphanet:527276 {source="MONDO:equivalentTo"}
xref: UMLS:C5681458 {source="MEDGEN:1814479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005560 ! brain disorder
is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder
is_a: MONDO:0100276 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisomal and mitochondrial fission
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614388"} ! inherited

[Term]
id: MONDO:0054866
name: sudden arrhythmia death syndrome
synonym: "SADS" RELATED ABBREVIATION [GARD:0009434]
synonym: "sudden arrhythmic death syndrome" EXACT [GARD:0009434, UMLS:C2721586]
synonym: "sudden cardiac death due to cardiac arrhythmia" RELATED [UMLS:C2721586]
xref: MEDGEN:439428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:735686002 {source="MONDO:equivalentTo", source="UMLS:C2721586"}
xref: UMLS:C2721586 {source="MEDGEN:439428", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease

[Term]
id: MONDO:0054867
name: paraomphalocele
subset: gard_rare {source="GARD:4218", source="MONDO:GARD"}
subset: rare
synonym: "Paraomphalocele, epigastric" RELATED [MESH:C537170]
synonym: "Paraomphalocele, hypogastric" RELATED [MESH:C537170]
xref: GARD:4218 {source="MONDO:GARD"}
xref: MEDGEN:419800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537170 {source="MONDO:equivalentTo"}
xref: UMLS:C2931431 {source="MEDGEN:419800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009264 {source="MESH:C537170"} ! gastroschisis

[Term]
id: MONDO:0054868
name: meconium ileus
def: "Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine." [NCIT:C98979]
synonym: "meconium ileus" EXACT [NCIT:C98979]
xref: MEDGEN:473705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000074270 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C98979 {source="MONDO:equivalentTo"}
xref: SCTID:206523001 {source="MONDO:equivalentTo"}
xref: UMLS:C2939175 {source="MEDGEN:473705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004567 {source="NCIT:C98979"} ! ileus

[Term]
id: MONDO:0054869
name: nondystrophic myotonia
subset: gard_rare {source="GARD:9852", source="MONDO:GARD"}
subset: rare
synonym: "NDM" RELATED ABBREVIATION [GARD:0009852]
xref: GARD:9852 {source="MONDO:GARD"}
xref: MEDGEN:419721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536245 {source="MONDO:equivalentTo"}
xref: UMLS:C2931139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419721"}
is_a: MONDO:0016120 ! myotonic syndrome

[Term]
id: MONDO:0056795
name: X-linked spermatogenic failure 1
subset: gard_rare {source="GARD:8406", source="MONDO:GARD"}
subset: rare
synonym: "Del Castillo syndrome" RELATED [OMIM:305700]
synonym: "Germinal cell aplasia" RELATED [OMIM:305700]
synonym: "Sertoli cell-only syndrome" RELATED [OMIM:305700]
synonym: "spermatogenic failure, X-linked, 1" RELATED [MONDO:Lexical, OMIM:305700]
synonym: "spermatogenic failure, X-linked, type 1" EXACT [MONDORULE:1, OMIM:305700]
synonym: "SPGFX1" EXACT ABBREVIATION [DOID:0070189, MONDO:Lexical, OMIM:305700]
xref: DOID:0070189 {source="MONDO:equivalentTo"}
xref: GARD:8406 {source="MONDO:GARD"}
xref: OMIM:305700 {source="DOID:0070189", source="MONDO:equivalentTo", source="DOID:0050457"}
xref: Orphanet:399805 {source="OMIM:305700"}
is_a: MONDO:0004983 {source="OMIM:305700"} ! spermatogenic failure
is_a: MONDO:0010595 {source="OMIM:305700"} ! Sertoli cell-only syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3633" xsd:anyURI

[Term]
id: MONDO:0056796
name: obstructive nephropathy
def: "Renal damage and impaired renal function secondary to urinary tract obstruction." []
synonym: "congenital obstructive nephropathy" EXACT [DOID:0070314]
synonym: "obstructive nephropathy" EXACT []
xref: DOID:0070314 {source="MONDO:equivalentTo"}
xref: ICD9:593.89
xref: MEDGEN:508456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C120902 {source="MONDO:equivalentTo"}
xref: SCTID:86249007 {source="MONDO:equivalentTo", source="DOID:0070314"}
xref: UMLS:C0149939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508456"}
is_a: MONDO:0005240 {source="DOID:0070314"} ! kidney disorder

[Term]
id: MONDO:0056797
name: neurodevelopmental disorder with midbrain and hindbrain malformations
subset: otar {source="MONDO:OTAR"}
synonym: "NEDMHM" EXACT ABBREVIATION [DOID:0080312, OMIM:617523]
synonym: "neurodevelopmental disorder with midbrain and hindbrain malformations" EXACT [OMIM:617523]
xref: DOID:0080312 {source="MONDO:equivalentTo"}
xref: MEDGEN:1385580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617523 {source="DOID:0080312", source="MONDO:equivalentTo"}
xref: UMLS:C4479613 {source="MEDGEN:1385580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="DOID:0080312"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0000508 {source="DOID:0080312", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0056798
name: disorder of appendix
def: "A disease or disorder that involves the vermiform appendix." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "appendiceal disease" EXACT []
synonym: "appendix disease" EXACT []
synonym: "disease of appendix" EXACT []
synonym: "disease of vermiform appendix" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of vermiform appendix" EXACT []
synonym: "disorder of appendix" EXACT []
synonym: "disorder of vermiform appendix" EXACT [MONDO:patterns/location_top]
synonym: "vermiform appendix disease" EXACT []
synonym: "vermiform appendix disease or disorder" EXACT [MONDO:patterns/location]
xref: DOID:60000 {source="MONDO:equivalentTo"}
xref: EFO:0009542 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:K35-K38 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:543.9
xref: MEDGEN:540821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:18526009 {source="MONDO:equivalentTo"}
xref: UMLS:C0267613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:540821"}
is_a: MONDO:0004335 {source="DOID:60000"} ! digestive system disorder
is_a: MONDO:0024634 ! large intestine disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix

[Term]
id: MONDO:0056799
name: synovium disorder
def: "A disease or disorder that involves the layer of synovial tissue." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of layer of synovial tissue" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of layer of synovial tissue" EXACT []
synonym: "disorder of layer of synovial tissue" EXACT [MONDO:patterns/location_top]
synonym: "disorder of synovium" EXACT []
synonym: "layer of synovial tissue disease" EXACT []
synonym: "layer of synovial tissue disease or disorder" EXACT [MONDO:patterns/location]
xref: ICD10CM:M65-M67 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD9:727.89
xref: ICD9:727.9
xref: MEDGEN:538212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:3519007 {source="MONDO:equivalentTo"}
xref: UMLS:C0263945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538212"}
is_a: MONDO:0002081 ! musculoskeletal system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0007616 ! layer of synovial tissue

[Term]
id: MONDO:0056802
name: synovial bursa disorder
def: "A disease or disorder that involves the synovial bursa." [MONDO:patterns/location]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of synovial bursa" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of synovial bursa" EXACT []
synonym: "disorder of bursa" EXACT []
synonym: "disorder of synovial bursa" EXACT [MONDO:patterns/location_top]
synonym: "synovial bursa disease or disorder" EXACT [MONDO:patterns/location]
xref: MEDGEN:538213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:10597006 {source="MONDO:equivalentTo"}
xref: UMLS:C0263946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:538213"}
is_a: MONDO:0056799 ! synovium disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0003668 ! synovial bursa

[Term]
id: MONDO:0056803
name: sulfur metabolism disease
def: "A disease that has its basis in the disruption of sulfur compound metabolic process." [MONDO:patterns/disrupts_process]
synonym: "disorder of sulfur compound metabolic process" EXACT [MONDO:patterns/basis_in_disruption_of_process]
synonym: "disorder of sulfur metabolic process" EXACT []
synonym: "disorder of sulfur metabolism" EXACT []
synonym: "disorder of sulphur compound metabolic process" EXACT OMO:0003005 []
synonym: "disorder of sulphur metabolic process" EXACT OMO:0003005 []
synonym: "disorder of sulphur metabolism" EXACT OMO:0003005 []
synonym: "sulfur compound metabolic process disease" EXACT []
synonym: "sulphur compound metabolic process disease" EXACT OMO:0003005 []
xref: MEDGEN:688004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:123809005 {source="MONDO:equivalentTo"}
xref: UMLS:C1263724 {source="MEDGEN:688004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000226 ! mineral metabolism disease
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0006790 ! sulfur compound metabolic process

[Term]
id: MONDO:0056804
name: benign neoplasm of peripheral nervous system
xref: DOID:0080320 {source="MONDO:equivalentTo"}
xref: MEDGEN:199653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0751427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199653"}
is_a: MONDO:0000628 {source="DOID:0080320"} ! central nervous system organ benign neoplasm
intersection_of: MONDO:0005165 ! benign neoplasm
intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system

[Term]
id: MONDO:0056805
name: benign peripheral nerve granular cell tumor
def: "A benign granular cell tumor that involves the nerve." [MONDO:patterns/location]
subset: inferred_rare
subset: rare
synonym: "benign granular cell neoplasm of peripheral nerve" EXACT [NCIT:C5502]
synonym: "benign granular cell neoplasm of the peripheral nerve" EXACT [NCIT:C5502]
synonym: "benign granular cell tumor of nerve" EXACT []
synonym: "benign granular cell tumor of peripheral nerve" EXACT [NCIT:C5502]
synonym: "benign granular cell tumor of the peripheral nerve" EXACT [NCIT:C5502]
synonym: "benign granular cell tumour of nerve" EXACT OMO:0003005 []
synonym: "benign granular cell tumour of peripheral nerve" EXACT OMO:0003005 []
synonym: "benign granular cell tumour of the peripheral nerve" EXACT OMO:0003005 []
synonym: "benign peripheral nerve granular cell neoplasm" EXACT [NCIT:C5502]
synonym: "benign peripheral nerve granular cell tumor" EXACT [NCIT:C5502]
synonym: "nerve benign granular cell tumor" EXACT [MONDO:patterns/location]
synonym: "nerve benign granular cell tumour" EXACT OMO:0003005 []
xref: MEDGEN:272363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C5502 {source="MONDO:equivalentTo"}
xref: UMLS:C1332530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272363"}
is_a: MONDO:0001406 {source="NCIT:C5502"} ! peripheral nervous system neoplasm
is_a: MONDO:0003250 {source="NCIT:C5502"} ! benign granular cell tumor
intersection_of: MONDO:0003250 ! benign granular cell tumor
intersection_of: disease_has_location UBERON:0001021 ! nerve

[Term]
id: MONDO:0056806
name: non-small cell squamous lung carcinoma
def: "A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma." [NCIT:C133254]
subset: otar {source="MONDO:OTAR"}
synonym: "non-small cell squamous lung cancer" EXACT [NCIT:C133254]
synonym: "non-small cell squamous lung carcinoma" EXACT [NCIT:C133254]
synonym: "squamous non-small cell lung carcinoma" EXACT [NCIT:C133254]
xref: DOID:0080521 {source="MONDO:equivalentTo"}
xref: MEDGEN:1383559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C133254 {source="MONDO:equivalentTo"}
xref: SCTID:723301009 {source="MONDO:equivalentTo"}
xref: UMLS:C4509816 {source="MEDGEN:1383559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005097 {source="NCIT:C133254"} ! squamous cell lung carcinoma
is_a: MONDO:0005233 {source="NCIT:C133254"} ! non-small cell lung carcinoma
intersection_of: MONDO:0005097 {source="NCIT:C133254"} ! squamous cell lung carcinoma
intersection_of: MONDO:0005233 {source="NCIT:C133254"} ! non-small cell lung carcinoma

[Term]
id: MONDO:0056813
name: hormone-resistant breast carcinoma
def: "Breast carcinoma that does not respond to hormone therapy." [NCIT:C114932]
synonym: "hormone-refractory breast cancer" EXACT [NCIT:C114932]
synonym: "hormone-resistant breast cancer" EXACT [NCIT:C114932]
synonym: "hormone-resistant breast carcinoma" EXACT [NCIT:C114932]
xref: MEDGEN:1631521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114932 {source="MONDO:equivalentTo"}
xref: UMLS:C4049259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631521"}
is_a: MONDO:0004989 {source="NCIT:C114932"} ! breast carcinoma
intersection_of: MONDO:0004989 {source="NCIT:C114932"} ! breast carcinoma
intersection_of: disease_has_feature NCIT:C147564 {source="NCIT:C114932"} ! Hormone Resistance

[Term]
id: MONDO:0056814
name: hormone-resistant prostate carcinoma
def: "Prostate carcinoma that does not respond to hormone therapy." [NCIT:C114933]
synonym: "hormone-resistant prostate cancer" EXACT [NCIT:C114933]
synonym: "hormone-resistant prostate carcinoma" EXACT [NCIT:C114933]
xref: MEDGEN:858471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C114933 {source="MONDO:equivalentTo"}
xref: UMLS:C3898877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:858471"}
is_a: MONDO:0005159 {source="NCIT:C114933"} ! prostate carcinoma
intersection_of: MONDO:0005159 {source="NCIT:C114933"} ! prostate carcinoma
intersection_of: disease_has_feature NCIT:C147564 {source="NCIT:C114933"} ! Hormone Resistance

[Term]
id: MONDO:0056815
name: liver adenosquamous carcinoma
def: "A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells." [NCIT:C118630]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "liver adenosquamous cancer" EXACT [NCIT:C118630]
synonym: "liver adenosquamous carcinoma" EXACT [NCIT:C118630]
xref: MEDGEN:858180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118630 {source="MONDO:equivalentTo"}
xref: UMLS:C3898586 {source="MEDGEN:858180", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006074 {source="NCIT:C118630"} ! adenosquamous carcinoma
is_a: MONDO:0018531 {source="NCIT:C118630"} ! carcinoma of liver and intrahepatic biliary tract
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0002107 ! liver

[Term]
id: MONDO:0056816
name: vulvar neuroendocrine carcinoma
def: "A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas." [NCIT:C128243]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "mammalian vulva neuroendocrine carcinoma" EXACT [MONDO:patterns/location]
synonym: "neuroendocrine carcinoma of mammalian vulva" EXACT []
synonym: "vulvar high grade Neuroendocrine carcinoma" EXACT [NCIT:C128243]
synonym: "vulvar high grade Neuroendocrine neoplasm" EXACT [NCIT:C128243]
synonym: "vulvar Neuroendocrine cancer" EXACT [NCIT:C128243]
synonym: "vulvar Neuroendocrine carcinoma" EXACT [NCIT:C128243]
xref: MEDGEN:925534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128243 {source="MONDO:equivalentTo"}
xref: UMLS:C4288002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:925534"}
is_a: MONDO:0002120 {source="NCIT:C128243"} ! neuroendocrine carcinoma
is_a: MONDO:0005215 {source="NCIT:C128243"} ! vulvar carcinoma
intersection_of: MONDO:0002120 ! neuroendocrine carcinoma
intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva

[Term]
id: MONDO:0056817
name: rectal adenosquamous carcinoma
def: "An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:C43594]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "rectal adenosquamous cancer" EXACT [NCIT:C43594]
synonym: "rectal adenosquamous carcinoma" EXACT [NCIT:C43594]
xref: MEDGEN:313658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C43594 {source="MONDO:equivalentTo"}
xref: UMLS:C1709865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313658"}
is_a: MONDO:0006157 {source="NCIT:C43594"} ! colorectal adenosquamous carcinoma
is_a: MONDO:0044937 {source="NCIT:C43594"} ! rectal carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0001052 ! rectum

[Term]
id: MONDO:0056818
name: skin adenosquamous carcinoma
def: "An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components." [NCIT:C54250]
synonym: "skin adenosquamous cancer" EXACT [NCIT:C54250]
synonym: "skin adenosquamous carcinoma" EXACT [NCIT:C54250]
xref: MEDGEN:313707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54250 {source="MONDO:equivalentTo"}
xref: UMLS:C1710103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313707"}
is_a: MONDO:0002656 {source="NCIT:C54250"} ! skin carcinoma
is_a: MONDO:0006074 {source="NCIT:C54250"} ! adenosquamous carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0000014 ! zone of skin

[Term]
id: MONDO:0056819
name: nasal cavity and paranasal sinus carcinoma
def: "A carcinoma arising from the nasal cavity or paranasal sinuses." [NCIT:C54293]
comment: Editor note: TODO add uberon term
subset: otar {source="MONDO:OTAR"}
synonym: "nasal cavity and paranasal sinus cancer" EXACT [NCIT:C54293]
synonym: "nasal cavity and paranasal sinus carcinoma" EXACT [NCIT:C54293]
synonym: "paranasal sinus and nasal cavity cancer" EXACT [NCIT:C54293]
synonym: "sinonasal carcinoma" EXACT [NCIT:C54293]
xref: MEDGEN:328032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C54293 {source="MONDO:equivalentTo"}
xref: UMLS:C1710095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328032"}
is_a: MONDO:0002038 {source="NCIT:C54293"} ! head and neck carcinoma
is_a: MONDO:0056820 {source="NCIT:C54293"} ! nasal cavity and paranasal sinus neoplasm

[Term]
id: MONDO:0056820
name: nasal cavity and paranasal sinus neoplasm
def: "A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C7336]
comment: Editor note: TODO add uberon term
subset: otar {source="MONDO:OTAR"}
synonym: "nasal cavity and paranasal sinus neoplasm" EXACT [NCIT:C7336]
xref: MEDGEN:235362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C7336 {source="MONDO:equivalentTo"}
xref: UMLS:C1334925 {source="MEDGEN:235362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005586 {source="NCIT:C7336"} ! head and neck neoplasm

[Term]
id: MONDO:0056821
name: obsolete bronchiolitis obliterans organizing pneumonia
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4417" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0015264

[Term]
id: MONDO:0056822
name: amyotonia congenita
synonym: "amyotonia congenita" EXACT [OMIM:205000]
synonym: "Oppenheim disease" RELATED [OMIM:205000]
xref: MEDGEN:8042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:205000 {source="MONDO:equivalentTo"}
xref: UMLS:C0002735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8042"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060455
name: X-linked congenital hemolytic anemia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hemolytic anemia, congenital, X-linked" RELATED [OMIM:301015]
synonym: "hemolytic anemia, congenital, X-linked, X-linked recessive" EXACT [OMIM:301015, OMIM:genemap2]
xref: DOID:0111846 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301015 {source="MONDO:equivalentTo"}
xref: UMLS:C4746970 {source="MEDGEN:1648376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia
relationship: has_characteristic HP:0001417 ! X-linked inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0060456
name: cerebral sclerosis, diffuse, scholz type
synonym: "cerebral sclerosis, diffuse, scholz type" EXACT [OMIM:302700]
xref: MEDGEN:335049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564449 {source="MONDO:equivalentTo"}
xref: OMIM:302700 {source="MONDO:equivalentTo"}
xref: Orphanet:43 {source="OMIM:302700"}
xref: UMLS:C1844884 {source="MEDGEN:335049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060457
name: autoinflammation with arthritis and dyskeratosis
subset: otar {source="MONDO:OTAR"}
synonym: "AIADK" RELATED ABBREVIATION [OMIM:617388]
synonym: "AUTOINFLAMMATION with arthritis and dyskeratosis" RELATED [OMIM:617388]
xref: MEDGEN:1380109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617388 {source="MONDO:equivalentTo"}
xref: UMLS:C4479278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1380109"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060486
name: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
subset: gard_rare {source="GARD:18566", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AMCNMY" RELATED ABBREVIATION [OMIM:617468]
synonym: "arthrogryposis multiplex congenita, neurogenic, with myelin defect" EXACT [OMIM:617468]
xref: DOID:0080978 {source="MONDO:equivalentTo"}
xref: GARD:18566 {source="MONDO:GARD"}
xref: MEDGEN:1373185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617468 {source="MONDO:equivalentTo"}
xref: Orphanet:2680 {source="OMIM:617468"}
xref: UMLS:C4479539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373185"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015168 {source="OMIM:617468"} ! arthrogryposis multiplex congenita
intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18712 ! LGI4

[Term]
id: MONDO:0060489
name: 46,XX sex reversal 4
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46, XX sex reversal 4" EXACT [OMIM:617480, OMIM:genemap2]
synonym: "46,XX SEX reversal 4" RELATED [OMIM:617480]
synonym: "46,XX Sex reversal, Sry-Negative" RELATED [OMIM:617480]
synonym: "SRXX4" RELATED ABBREVIATION [OMIM:617480]
xref: DOID:0111764 {source="MONDO:equivalentTo"}
xref: MEDGEN:1373282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617480 {source="MONDO:equivalentTo"}
xref: UMLS:C4479552 {source="MEDGEN:1373282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100249 ! 46,XX testicular disorder of sex development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0060490
name: neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
def: "A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum." [Orphanet:544469]
subset: gard_rare {source="GARD:17985", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:544469"}
subset: orphanet_rare {source="Orphanet:544469"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" EXACT [OMIM:617481]
synonym: "NMIHBA" RELATED ABBREVIATION [OMIM:617481]
xref: GARD:17985 {source="MONDO:GARD"}
xref: ICD10CM:Q07.8 {source="Orphanet:544469", source="MONDO:mondoSubClassOfSource"}
xref: MEDGEN:1380860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617481 {source="Orphanet:544469", source="MONDO:equivalentTo"}
xref: Orphanet:544469 {source="MONDO:equivalentTo"}
xref: UMLS:C4479566 {source="MEDGEN:1380860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13420 ! PRUNE1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060491
name: neurodevelopmental disorder with involuntary movements
comment: Editor note: todo - check orphanet xref
subset: gard_rare {source="GARD:16232", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDIM" RELATED ABBREVIATION [OMIM:617493]
synonym: "neurodevelopmental disorder with involuntary movements" EXACT [OMIM:617493]
xref: DOID:0112276 {source="MONDO:equivalentTo"}
xref: GARD:16232 {source="MONDO:GARD"}
xref: MEDGEN:1374697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617493 {source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="OMIM:617493"}
xref: UMLS:C4479569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1374697"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060496
name: neurodevelopmental disorder with hypotonia, neuropathy, and deafness
subset: clingen {source="MONDO:CLINGEN"}
synonym: "myopathy, Congenital, with neuropathy and Deafness" RELATED [OMIM:617519]
synonym: "NEDHND" RELATED ABBREVIATION [OMIM:617519]
synonym: "neurodevelopmental disorder with hypotonia, neuropathy, and deafness" EXACT [OMIM:617519]
xref: MEDGEN:1382171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617519 {source="MONDO:equivalentTo"}
xref: UMLS:C4479603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1382171"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060502
name: neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
subset: gard_rare {source="GARD:17960", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:521426"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:521426"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NDMSBA" RELATED ABBREVIATION [OMIM:617527]
synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" EXACT [OMIM:617527]
xref: GARD:17960 {source="MONDO:GARD"}
xref: MEDGEN:1380260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617527 {source="MONDO:equivalentTo", source="Orphanet:521426"}
xref: Orphanet:521426 {source="MONDO:equivalentTo"}
xref: UMLS:C4479631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1380260"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:521426"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060507
name: retinal dystrophy with or without macular staphyloma
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:653709"}
subset: orphanet_rare {source="Orphanet:653709"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RDMS" RELATED ABBREVIATION [OMIM:617547]
synonym: "retinal dystrophy with macular staphyloma" EXACT [OMIM:617547, OMIM:genemap2]
synonym: "retinal dystrophy with or without macular staphyloma" EXACT [OMIM:617547]
xref: MEDGEN:1381980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617547 {source="MONDO:equivalentTo"}
xref: Orphanet:653709 {source="MONDO:equivalentTo"}
xref: UMLS:C4479651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381980"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0060510
name: Cohen-Gibson syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:16235", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:659396"}
subset: orphanet_rare {source="Orphanet:659396"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "COGIS" RELATED ABBREVIATION [OMIM:617561]
synonym: "Cohen-Gibson syndrome" EXACT [OMIM:617561]
xref: GARD:16235 {source="MONDO:GARD"}
xref: MEDGEN:1386939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617561 {source="MONDO:equivalentTo"}
xref: Orphanet:659396 {source="MONDO:equivalentTo"}
xref: UMLS:C4479654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386939"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060527
name: maleylacetoacetate isomerase deficiency
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "benign hypersuccinylacetonemia" RELATED [OMIM:617596]
synonym: "hypersuccinylacetonemia, mild" RELATED [OMIM:617596]
synonym: "MAAI deficiency" RELATED [OMIM:617596]
synonym: "MAAID" RELATED ABBREVIATION [OMIM:617596]
synonym: "maleylacetoacetate isomerase deficiency" EXACT CLINGEN_LABEL [OMIM:617596, OMIM:genemap2]
xref: MEDGEN:713903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617596 {source="MONDO:equivalentTo"}
xref: UMLS:C1291607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:713903"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0060532
name: congenital heart defects and skeletal malformations syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:643503"}
subset: orphanet_rare {source="Orphanet:643503"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CHDSKM" RELATED ABBREVIATION [OMIM:617602]
synonym: "congenital heart defects and skeletal malformations syndrome" EXACT [OMIM:617602]
synonym: "marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome" EXACT [Orphanet:643503]
xref: MEDGEN:1618340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617602 {source="MONDO:equivalentTo"}
xref: Orphanet:643503 {source="MONDO:equivalentTo"}
xref: UMLS:C4539857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618340"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060533
name: microcephaly, short stature, and limb abnormalities
subset: gard_rare {source="GARD:18655", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:572773"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly, short stature, and limb abnormalities" EXACT [OMIM:617604]
synonym: "MISSLA" RELATED ABBREVIATION [OMIM:617604]
xref: DOID:0081431 {source="MONDO:equivalentTo"}
xref: GARD:18655 {source="MONDO:GARD"}
xref: MEDGEN:1613834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617604 {source="MONDO:equivalentTo"}
xref: Orphanet:572773 {source="MONDO:equivalentTo"}
xref: UMLS:C4539873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1613834"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060549
name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656130"}
subset: orphanet_rare {source="Orphanet:656130"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CAKUTHED" RELATED ABBREVIATION [OMIM:617641]
synonym: "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" EXACT [OMIM:617641]
xref: DOID:0112359 {source="MONDO:equivalentTo"}
xref: MEDGEN:1612119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617641 {source="MONDO:equivalentTo"}
xref: Orphanet:656130 {source="MONDO:equivalentTo"}
xref: UMLS:C4539968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1612119"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060550
name: polydactyly, postaxial, type a7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "PAPA7" RELATED ABBREVIATION [OMIM:617642]
synonym: "polydactyly, postaxial, type A7" RELATED [OMIM:617642]
xref: MEDGEN:1627079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617642 {source="MONDO:equivalentTo"}
xref: UMLS:C4539976 {source="MEDGEN:1627079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019673 ! postaxial polydactyly type A

[Term]
id: MONDO:0060551
name: cerebellar atrophy, developmental delay, and seizures
subset: otar {source="MONDO:OTAR"}
synonym: "CADEDS" RELATED ABBREVIATION [OMIM:617643]
synonym: "cerebellar atrophy, developmental delay, and seizures" EXACT [OMIM:617643]
xref: MEDGEN:1626119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617643 {source="MONDO:equivalentTo"}
xref: UMLS:C4539985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1626119"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060554
name: vertebral, cardiac, renal, and limb defects syndrome 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18508", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "3-hydroxyanthranilic acidemia" RELATED [OMIM:617660]
synonym: "congenital NAD deficiency Disorder 1" RELATED [OMIM:617660]
synonym: "VCRL1" RELATED ABBREVIATION [OMIM:617660]
synonym: "vertebral, cardiac, renal, and limb defects syndrome 1" EXACT CLINGEN_LABEL [OMIM:617660]
xref: GARD:18508 {source="MONDO:GARD"}
xref: MEDGEN:1621146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617660 {source="MONDO:equivalentTo"}
xref: UMLS:C4540004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621146"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4796 ! HAAO
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0060555
name: vertebral, cardiac, renal, and limb defects syndrome 2
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18509", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital NAD deficiency disorder 2" RELATED [OMIM:617661]
synonym: "kynureninase deficiency, complete" RELATED [OMIM:617661]
synonym: "VCRL2" RELATED ABBREVIATION [OMIM:617661]
synonym: "vertebral, cardiac, renal, and limb defects syndrome 2" EXACT CLINGEN_LABEL [OMIM:617661]
xref: GARD:18509 {source="MONDO:GARD"}
xref: MEDGEN:1624065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617661 {source="MONDO:equivalentTo"}
xref: UMLS:C4540014 {source="MEDGEN:1624065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
intersection_of: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6469 ! KYNU
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0060556
name: joint laxity, short stature, and myopia
subset: gard_rare {source="GARD:17963", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:527450"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:527450"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "JLSM" RELATED ABBREVIATION [OMIM:617662]
synonym: "joint laxity, short stature, and myopia" EXACT [OMIM:617662]
xref: GARD:17963 {source="MONDO:GARD"}
xref: MEDGEN:1621331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617662 {source="MONDO:equivalentTo", source="Orphanet:527450"}
xref: Orphanet:527450 {source="MONDO:equivalentTo"}
xref: UMLS:C4540020 {source="MONDO:equivalentTo", source="MEDGEN:1621331", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis
relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:527450", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with multiple joint dislocations
relationship: has_characteristic HP:0000007 {source="Orphanet:527450"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15808 {source="Orphanet:527450"} ! GZF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0060562
name: encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
synonym: "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" EXACT [OMIM:617668]
synonym: "lipoyltransferase 2 deficiency" RELATED [OMIM:617668]
synonym: "NELABA" RELATED ABBREVIATION [OMIM:617668]
xref: MEDGEN:1624694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617668 {source="MONDO:equivalentTo"}
xref: UMLS:C4540052 {source="MEDGEN:1624694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy
is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-0736-9199"} ! Mendelian neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0060564
name: HELIX syndrome
subset: gard_rare {source="GARD:17967", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:528105"}
subset: orphanet_rare {source="Orphanet:528105"}
subset: rare
synonym: "HELIX" EXACT ABBREVIATION [OMIM:617671]
synonym: "HELIX syndrome" EXACT [OMIM:617671, Orphanet:528105]
synonym: "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" RELATED [OMIM:617671]
synonym: "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" EXACT [MONDO:0033939]
xref: GARD:17967 {source="MONDO:GARD"}
xref: MEDGEN:1621482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617671 {source="MONDO:equivalentTo"}
xref: Orphanet:528105 {source="MONDO:equivalentTo"}
xref: UMLS:C4522164 {source="MEDGEN:1621482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder
is_a: MONDO:0015962 {source="Orphanet:528105"} ! inherited renal tubular disease
relationship: has_characteristic HP:0000007 {source="Orphanet:528105"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2033 {source="Orphanet:528105"} ! CLDN10

[Term]
id: MONDO:0060568
name: Pilarowski-Bjornsson syndrome
subset: gard_rare {source="GARD:17970", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529965"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:529965"}
subset: rare
synonym: "developmental delay and speech apraxia with or without seizures" RELATED [OMIM:617682]
synonym: "Pilarowski-Bjornsson syndrome" EXACT [OMIM:617682]
synonym: "PILBOS" RELATED ABBREVIATION [OMIM:617682]
xref: GARD:17970 {source="MONDO:GARD"}
xref: MEDGEN:1619150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617682 {source="MONDO:equivalentTo", source="Orphanet:529965"}
xref: Orphanet:529965 {source="MONDO:equivalentTo"}
xref: UMLS:C4540131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1619150"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:529965"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic HP:0000006 {source="Orphanet:529965"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1915 {source="Orphanet:529965"} ! CHD1

[Term]
id: MONDO:0060577
name: neurodevelopmental disorder with microcephaly, ataxia, and seizures
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22576", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDMAS" RELATED ABBREVIATION [OMIM:617709]
synonym: "neurodevelopmental disorder with microcephaly, ataxia, and seizures" EXACT [OMIM:617709]
xref: GARD:22576 {source="MONDO:GARD"}
xref: MEDGEN:1613354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617709 {source="MONDO:equivalentTo"}
xref: UMLS:C4540188 {source="MEDGEN:1613354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060578
name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
subset: gard_rare {source="GARD:18012", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:572798"}
subset: orphanet_rare {source="Orphanet:572798"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEMMLAS" RELATED ABBREVIATION [OMIM:617710]
synonym: "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" EXACT [OMIM:617710]
xref: GARD:18012 {source="MONDO:GARD"}
xref: MEDGEN:1619876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617710 {source="MONDO:equivalentTo"}
xref: Orphanet:572798 {source="MONDO:equivalentTo"}
xref: UMLS:C4540192 {source="MEDGEN:1619876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060582
name: auditory neuropathy-optic atrophy syndrome
subset: gard_rare {source="GARD:17983", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:542585"}
subset: orphanet_rare {source="Orphanet:542585"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ANOA" RELATED ABBREVIATION [OMIM:617717]
synonym: "auditory neuropathy and optic atrophy" RELATED [OMIM:617717]
xref: GARD:17983 {source="MONDO:GARD"}
xref: MEDGEN:1623572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617717 {source="Orphanet:542585", source="MONDO:equivalentTo"}
xref: Orphanet:542585 {source="MONDO:equivalentTo"}
xref: UMLS:C4521678 {source="MEDGEN:1623572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0044970 ! mitochondrial disease
relationship: has_characteristic HP:0000007 {source="Orphanet:542585"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3642 {source="Orphanet:542585"} ! FDXR

[Term]
id: MONDO:0060583
name: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" EXACT [OMIM:617718, OMIM:genemap2]
synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT CLINGEN_LABEL [OMIM:617718]
synonym: "PLTEID" RELATED ABBREVIATION [OMIM:617718]
xref: DOID:0112004 {source="MONDO:equivalentTo"}
xref: MEDGEN:1618052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617718 {source="MONDO:equivalentTo"}
xref: UMLS:C4540232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618052"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0060585
name: neuronopathy, distal hereditary motor, type 9
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "HMN9" RELATED ABBREVIATION [OMIM:617721]
synonym: "neuronopathy, distal hereditary motor, type IX" RELATED [OMIM:617721]
synonym: "neuropathy, distal hereditary motor, type 9" RELATED [OMIM:617721]
xref: DOID:0111212 {source="MONDO:equivalentTo"}
xref: MEDGEN:1617571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617721 {source="MONDO:equivalentTo"}
xref: UMLS:C4540265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617571"}
is_a: MONDO:0015362 {source="OMIM:617721"} ! neuronopathy, distal hereditary motor, autosomal dominant

[Term]
id: MONDO:0060589
name: facial palsy, congenital, with ptosis and velopharyngeal dysfunction
subset: otar {source="MONDO:OTAR"}
synonym: "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" EXACT [OMIM:617732]
synonym: "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction" EXACT [OMIM:617732, OMIM:genemap2]
synonym: "FPVEPD" RELATED ABBREVIATION [OMIM:617732]
xref: MEDGEN:1623077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617732 {source="MONDO:equivalentTo"}
xref: UMLS:C4540277 {source="MEDGEN:1623077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0060591
name: immunodeficiency, developmental delay, and hypohomocysteinemia
subset: otar {source="MONDO:OTAR"}
synonym: "IMDDHH" RELATED ABBREVIATION [OMIM:617744]
synonym: "immunodeficiency, developmental delay, and hypohomocysteinemia" EXACT [OMIM:617744]
xref: MEDGEN:1616061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617744 {source="MONDO:equivalentTo"}
xref: UMLS:C4540293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616061"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060592
name: Sweeney-Cox syndrome
subset: clingen {source="MONDO:CLINGEN"}
synonym: "SWCOS" RELATED ABBREVIATION [OMIM:617746]
synonym: "Sweeney-Cox syndrome" EXACT CLINGEN_LABEL [OMIM:617746]
xref: DOID:0080538 {source="MONDO:equivalentTo"}
xref: MEDGEN:1625659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617746 {source="MONDO:equivalentTo"}
xref: UMLS:C4540299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625659"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060593
name: obsolete actn3 deficiency
comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none
synonym: "ACTN3 deficiency" EXACT [OMIM:617749]
synonym: "alpha-actinin-3 deficiency" EXACT [OMIM:617749, OMIM:genemap2]
synonym: "sprinting performance" EXACT [OMIM:617749, OMIM:genemap2]
xref: OMIM:617749 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0060596
name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
subset: gard_rare {source="GARD:18513", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDDFL" RELATED ABBREVIATION [OMIM:617755]
synonym: "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" EXACT [OMIM:617755]
xref: DOID:0070514 {source="MONDO:equivalentTo"}
xref: GARD:18513 {source="MONDO:GARD"}
xref: MEDGEN:1627464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617755 {source="Orphanet:528084", source="MONDO:equivalentTo"}
xref: Orphanet:528084 {source="MONDO:relatedTo"}
xref: UMLS:C4540327 {source="MEDGEN:1627464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3581 {source="Orphanet:528084"} ! BPTF
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7308" xsd:anyURI

[Term]
id: MONDO:0060611
name: combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658813"}
subset: orphanet_rare {source="Orphanet:658813"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CIMAH" RELATED ABBREVIATION [OMIM:617780]
synonym: "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" EXACT [OMIM:617780]
synonym: "methylenetetrahydrofolate dehydrogenase 1 deficiency" RELATED [OMIM:617780]
xref: MEDGEN:1615364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617780 {source="MONDO:equivalentTo"}
xref: Orphanet:658813 {source="MONDO:equivalentTo"}
xref: UMLS:C4540434 {source="MEDGEN:1615364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060621
name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
subset: otar {source="MONDO:OTAR"}
synonym: "NDMSCA" RELATED ABBREVIATION [OMIM:617802]
synonym: "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" EXACT [OMIM:617802]
xref: EFO:0009644 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1615361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617802 {source="MONDO:equivalentTo"}
xref: UMLS:C4540493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615361"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060622
name: neurodevelopmental disorder with severe motor impairment and absent language
subset: gard_rare {source="GARD:13608", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647788"}
subset: orphanet_rare {source="Orphanet:647788"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDMIAL" RELATED ABBREVIATION [OMIM:617804]
synonym: "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" EXACT [Orphanet:647788]
synonym: "neurodevelopmental disorder with severe motor impairment and absent language" EXACT [OMIM:617804]
xref: GARD:13608 {source="MONDO:GARD"}
xref: MEDGEN:1622162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617804 {source="MONDO:equivalentTo"}
xref: Orphanet:647788 {source="MONDO:equivalentTo"}
xref: UMLS:C4540496 {source="MEDGEN:1622162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060624
name: neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
subset: otar {source="MONDO:OTAR"}
synonym: "NDAGSCW" RELATED ABBREVIATION [OMIM:617807]
synonym: "neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter" RELATED [OMIM:617807]
xref: MEDGEN:1621102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617807 {source="MONDO:equivalentTo"}
xref: UMLS:C4540498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621102"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060627
name: glycosylphosphatidylinositol biosynthesis defect 15
def: "A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated." [Orphanet:529665]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17969", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:529665"}
subset: ordo_malformation_syndrome
subset: orphanet_rare {source="Orphanet:529665"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "developmental delay, epilepsy, cerebellar atrophy, and osteopenia" RELATED [OMIM:617810]
synonym: "glycosylphosphatidylinositol biosynthesis defect 15" EXACT [OMIM:617810]
synonym: "GPIBD15" RELATED ABBREVIATION [OMIM:617810]
xref: GARD:17969 {source="MONDO:GARD"}
xref: MEDGEN:1615160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617810 {source="MONDO:equivalentTo", source="Orphanet:529665"}
xref: Orphanet:529665 {source="MONDO:equivalentTo"}
xref: UMLS:C4540520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615160"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015159 {source="Orphanet:529665"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis
relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation
relationship: excluded_subClassOf MONDO:0020022 {source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system malformation
relationship: has_characteristic HP:0000007 {source="Orphanet:529665"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4446 {source="Orphanet:529665"} ! GPAA1

[Term]
id: MONDO:0060629
name: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
subset: otar {source="MONDO:OTAR"}
synonym: "NDHMSR" RELATED ABBREVIATION [OMIM:617820]
synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" EXACT [OMIM:617820]
xref: EFO:0009300 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:1646665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617820 {source="MONDO:equivalentTo"}
xref: UMLS:C4693325 {source="MEDGEN:1646665", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060631
name: Alkuraya-Kucinskas syndrome
subset: gard_rare {source="GARD:18022", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:610569"}
subset: orphanet_rare {source="Orphanet:610569"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALKKUCS" RELATED ABBREVIATION [OMIM:617822]
synonym: "Alkuraya-Kucinskas syndrome" EXACT [OMIM:617822]
xref: DOID:0111555 {source="MONDO:equivalentTo"}
xref: GARD:18022 {source="MONDO:GARD"}
xref: MEDGEN:1634304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617822 {source="MONDO:equivalentTo"}
xref: Orphanet:610569 {source="MONDO:equivalentTo"}
xref: UMLS:C4693347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634304"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060640
name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
subset: otar {source="MONDO:OTAR"}
synonym: "NEDMEBA" RELATED ABBREVIATION [OMIM:617862]
synonym: "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" EXACT [OMIM:617862]
xref: DOID:0060934 {source="MONDO:equivalentTo"}
xref: MEDGEN:1637443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617862 {source="MONDO:equivalentTo"}
xref: UMLS:C4693390 {source="MEDGEN:1637443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060641
name: neurodevelopmental disorder with or without seizures and gait abnormalities
subset: otar {source="MONDO:OTAR"}
synonym: "NEDSGA" RELATED ABBREVIATION [OMIM:617864]
synonym: "neurodevelopmental disorder with or without seizures and gait abnormalities" EXACT [OMIM:617864]
xref: MEDGEN:1645968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617864 {source="MONDO:equivalentTo"}
xref: UMLS:C4693391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645968"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060642
name: neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
subset: otar {source="MONDO:OTAR"}
synonym: "NEDMAGA" RELATED ABBREVIATION [OMIM:617865]
synonym: "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" EXACT [OMIM:617865]
xref: MEDGEN:1647077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617865 {source="MONDO:equivalentTo"}
xref: UMLS:C4693405 {source="MEDGEN:1647077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060649
name: obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
comment: Split into OMIMPS and subclass.
property_value: IAO:0000231 IAO:0000229
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2758" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100297

[Term]
id: MONDO:0060650
name: Leber congenital amaurosis with early-onset deafness
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LCAEOD" RELATED ABBREVIATION [OMIM:617879]
synonym: "Leber congenital amaurosis with early-onset deafness" EXACT CLINGEN_LABEL [OMIM:617879]
xref: DOID:0112240 {source="MONDO:equivalentTo"}
xref: MEDGEN:1646810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617879 {source="MONDO:equivalentTo"}
xref: UMLS:C4693498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646810"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018998 {source="https://orcid.org/0000-0001-5208-3432"} ! Leber congenital amaurosis
relationship: disease_has_feature HP:0000365 ! Hearing impairment
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0060659
name: neurodevelopmental disorder with poor language and loss of hand skills
synonym: "NDPLHS" RELATED ABBREVIATION [OMIM:617903]
synonym: "neurodevelopmental disorder with poor language and loss of hand skills" EXACT [OMIM:617903]
xref: MEDGEN:1637031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617903 {source="MONDO:equivalentTo"}
xref: Orphanet:3095 {source="OMIM:617903"}
xref: UMLS:C4693546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637031"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060662
name: Diamond-Blackfan anemia-like
synonym: "DBAL" RELATED ABBREVIATION [OMIM:617911]
synonym: "Diamond-Blackfan anemia-like" EXACT [OMIM:617911]
xref: MEDGEN:1633207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617911 {source="MONDO:equivalentTo"}
xref: UMLS:C4693556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633207"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_shares_features_of MONDO:0015253 ! Diamond-Blackfan anemia

[Term]
id: MONDO:0060663
name: congenital heart defects, multiple types, 5
subset: otar {source="MONDO:OTAR"}
synonym: "CHTD5" RELATED ABBREVIATION [OMIM:617912]
synonym: "CONGENITAL heart defects, multiple types, 5" RELATED [OMIM:617912]
xref: MEDGEN:1636547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617912 {source="MONDO:equivalentTo"}
xref: UMLS:C4693563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636547"}
is_a: MONDO:0000119 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital heart defects, multiple types
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100541 {source="https://clinicalgenome.org/affiliation/40005/"} ! GATA5-related congenital heart defects
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7195" xsd:anyURI

[Term]
id: MONDO:0060664
name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
subset: otar {source="MONDO:OTAR"}
synonym: "NEDMCR" RELATED ABBREVIATION [OMIM:617913]
synonym: "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" EXACT [OMIM:617913]
xref: DOID:0081263 {source="MONDO:equivalentTo"}
xref: MEDGEN:1634867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617913 {source="MONDO:equivalentTo"}
xref: UMLS:C4693567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634867"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060666
name: hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "HADDTS" RELATED ABBREVIATION [OMIM:617915]
synonym: "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" EXACT [OMIM:617915]
xref: MEDGEN:1647427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617915 {source="MONDO:equivalentTo"}
xref: UMLS:C4693578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647427"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060670
name: amyotrophic lateral sclerosis, susceptibility to, 25
subset: clingen {source="MONDO:CLINGEN"}
subset: predisposition
synonym: "ALS25" RELATED ABBREVIATION [OMIM:617921]
synonym: "amyotrophic lateral sclerosis, susceptibility to, 25" EXACT [OMIM:617921]
xref: DOID:0081379 {source="MONDO:equivalentTo"}
xref: MEDGEN:1633917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617921 {source="MONDO:equivalentTo"}
xref: UMLS:C4693609 {source="MEDGEN:1633917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:617921", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: excluded_subClassOf MONDO:0005144 {source="OMIM:617921", source="https://orcid.org/0000-0001-5208-3432"} ! familial amyotrophic lateral sclerosis
relationship: predisposes_towards MONDO:0005144 {source="OMIM:617921"} ! familial amyotrophic lateral sclerosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0060671
name: epilepsy, juvenile myoclonic, susceptibility to, 10
subset: predisposition
synonym: "EJM10" RELATED ABBREVIATION [OMIM:617924]
synonym: "epilepsy, juvenile myoclonic, susceptibility to, 10" EXACT [OMIM:617924]
xref: DOID:0111325 {source="MONDO:equivalentTo"}
xref: MEDGEN:1647781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617924 {source="MONDO:equivalentTo"}
xref: Orphanet:307 {source="OMIM:617924"}
xref: UMLS:C4693613 {source="MEDGEN:1647781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:617924"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0009696 {source="OMIM:617924"} ! juvenile myoclonic epilepsy

[Term]
id: MONDO:0060677
name: chromosome 1p35 deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "chromosome 1p35 deletion syndrome" EXACT [OMIM:617930]
xref: MEDGEN:1632676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617930 {source="MONDO:equivalentTo"}
xref: UMLS:C4693669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632676"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016883 {source="https://orcid.org/0000-0002-6601-2165"} ! partial deletion of the short arm of chromosome 1
intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion
intersection_of: disease_arises_from_structure CHR:9606-chr1p35 ! 1p35 (Human)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3664" xsd:anyURI

[Term]
id: MONDO:0060688
name: hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency
synonym: "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency" EXACT [OMIM:617953]
synonym: "hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4" RELATED [OMIM:617953]
xref: MEDGEN:326643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617953 {source="MONDO:equivalentTo"}
xref: UMLS:C1840059 {source="MEDGEN:326643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060690
name: phenytoin toxicity
synonym: "arene oxide detoxification defect" RELATED [OMIM:617955]
synonym: "diphenylhydantoin, defect in hydroxylation of" RELATED [OMIM:617955]
synonym: "fetal hydantoin syndrome" RELATED [OMIM:617955]
synonym: "foetal hydantoin syndrome" RELATED OMO:0003005 []
synonym: "phenytoin toxicity" EXACT [OMIM:617955]
xref: MEDGEN:101775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617955 {source="MONDO:equivalentTo"}
xref: UMLS:C0149969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101775"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5529" xsd:anyURI

[Term]
id: MONDO:0060702
name: spondyloepimetaphyseal dysplasia, di rocco type
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMDDR" RELATED ABBREVIATION [OMIM:617974]
synonym: "spondyloepimetaphyseal dysplasia, Di Rocco type" RELATED [OMIM:617974]
xref: MEDGEN:1646454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617974 {source="MONDO:equivalentTo"}
xref: UMLS:C4693799 {source="MEDGEN:1646454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100510 {source="PMID:31633310"} ! spondyloepimetaphyseal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0060704
name: neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
subset: otar {source="MONDO:OTAR"}
synonym: "Elhattab-Alkuraya syndrome" RELATED [OMIM:617977]
synonym: "NEDSBAS" RELATED ABBREVIATION [OMIM:617977]
synonym: "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" EXACT [OMIM:617977]
xref: MEDGEN:1633724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617977 {source="MONDO:equivalentTo"}
xref: UMLS:C4693816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633724"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060707
name: Ververi-Brady syndrome
subset: gard_rare {source="GARD:18015", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:580940"}
subset: orphanet_rare {source="Orphanet:580940"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "VERBRAS" RELATED ABBREVIATION [OMIM:617982]
synonym: "Ververi-Brady syndrome" EXACT [OMIM:617982]
xref: GARD:18015 {source="MONDO:GARD"}
xref: MEDGEN:1647785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617982 {source="MONDO:equivalentTo"}
xref: Orphanet:580940 {source="MONDO:equivalentTo"}
xref: UMLS:C4693824 {source="MEDGEN:1647785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006"} ! syndromic intellectual disability
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060711
name: Jaberi-Elahi syndrome
subset: otar {source="MONDO:OTAR"}
synonym: "JABELS" RELATED ABBREVIATION [OMIM:617988]
synonym: "Jaberi-Elahi syndrome" EXACT [OMIM:617988]
xref: MEDGEN:1647359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617988 {source="MONDO:equivalentTo"}
xref: UMLS:C4693848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647359"}
is_a: MONDO:0002254 ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060712
name: obsolete developmental delay, intellectual disability, obesity, and dysmorphic features
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4803" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0035133

[Term]
id: MONDO:0060713
name: deafness, congenital heart defects, and posterior embryotoxon
subset: otar {source="MONDO:OTAR"}
synonym: "DCHE" RELATED ABBREVIATION [OMIM:617992]
synonym: "deafnes, congenital heart defects, and posterior embryotoxon" RELATED [OMIM:617992]
xref: MEDGEN:355614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566604 {source="MONDO:equivalentTo"}
xref: OMIM:617992 {source="MONDO:equivalentTo"}
xref: UMLS:C1866053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355614"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060714
name: tumoral calcinosis, hyperphosphatemic, familial, 2
subset: gard_rare {source="GARD:16281", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HFTC2" RELATED ABBREVIATION [OMIM:617993]
synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2" EXACT [OMIM:617993]
xref: EFO:0009383 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16281 {source="MONDO:GARD"}
xref: MEDGEN:1640532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617993 {source="MONDO:equivalentTo"}
xref: Orphanet:306661 {source="OMIM:617993"}
xref: UMLS:C4693863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640532"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018891 {source="OMIM:617993"} ! familial tumoral calcinosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0060715
name: tumoral calcinosis, hyperphosphatemic, familial, 3
subset: gard_rare {source="GARD:16282", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HFTC3" RELATED ABBREVIATION [OMIM:617994]
synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3" EXACT [OMIM:617994]
xref: EFO:0009384 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:16282 {source="MONDO:GARD"}
xref: MEDGEN:1638917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617994 {source="MONDO:equivalentTo"}
xref: Orphanet:306661 {source="OMIM:617994"}
xref: UMLS:C4693864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638917"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0018891 {source="OMIM:617994"} ! familial tumoral calcinosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0060720
name: congenital disorder of glycosylation with defective fucosylation
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDGF" RELATED ABBREVIATION [OMIM:618005]
synonym: "congenital disorder of glycosylation with defective fucosylation" EXACT [OMIM:618005]
xref: MEDGEN:1647704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:618005 {source="MONDO:equivalentTo"}
xref: UMLS:C4693905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647704"}
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:618005"} ! inherited

[Term]
id: MONDO:0060722
name: obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities
is_obsolete: true
replaced_by: MONDO:0013346

[Term]
id: MONDO:0060724
name: glycosylphosphatidylinositol biosynthesis defect 17
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glycosylphosphatidylinositol biosynthesis defect 17" EXACT [OMIM:618010]
synonym: "GPIBD17" RELATED ABBREVIATION [OMIM:618010]
xref: MEDGEN:1648437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618010 {source="MONDO:equivalentTo"}
xref: UMLS:C4747891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648437"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process

[Term]
id: MONDO:0060729
name: protoporphyria, erythropoietic, 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "EPP2" RELATED ABBREVIATION [OMIM:618015]
synonym: "protoporphyria, erythropoietic, 2" EXACT [OMIM:618015]
xref: MEDGEN:1645733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618015 {source="MONDO:equivalentTo"}
xref: UMLS:C4693947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645733"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019263 ! autosomal erythropoietic protoporphyria

[Term]
id: MONDO:0060732
name: tetraamelia syndrome 2
subset: gard_rare {source="GARD:16286", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TETAMS2" RELATED ABBREVIATION [OMIM:618021]
synonym: "tetraamelia syndrome 2" EXACT [OMIM:618021]
synonym: "tetraamelia syndrome 2 with pulmonary agenesis" RELATED [OMIM:618021]
xref: DOID:0112193 {source="MONDO:equivalentTo"}
xref: GARD:16286 {source="MONDO:GARD"}
xref: MEDGEN:1648284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618021 {source="MONDO:equivalentTo"}
xref: Orphanet:3301 {source="OMIM:618021"}
xref: UMLS:C4747923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648284"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0010110 ! tetraamelia-multiple malformations syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0060733
name: humerofemoral hypoplasia with radiotibial ray deficiency
subset: otar {source="MONDO:OTAR"}
synonym: "Hfhrtrd" RELATED [OMIM:618022]
synonym: "HHRRD" RELATED ABBREVIATION [OMIM:618022]
synonym: "humerofemoral hypoplasia with radiotibial ray deficiency" EXACT [OMIM:618022]
xref: MEDGEN:1648393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618022 {source="MONDO:equivalentTo"}
xref: UMLS:C4747940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648393"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060745
name: intellectual developmental disorder with or without epilepsy or cerebellar ataxia
subset: otar {source="MONDO:OTAR"}
synonym: "IDDECA" RELATED ABBREVIATION [OMIM:618060]
synonym: "intellectual developmental disorder with or without epilepsy or cerebellar ataxia" EXACT [OMIM:618060]
xref: MEDGEN:1648354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618060 {source="MONDO:equivalentTo"}
xref: UMLS:C4748041 {source="MEDGEN:1648354", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease

[Term]
id: MONDO:0060752
name: neurodevelopmental disorder with spasticity and poor growth
subset: otar {source="MONDO:OTAR"}
synonym: "NEDSG" RELATED ABBREVIATION [OMIM:618076]
synonym: "neurodevelopmental disorder with spasticity and poor growth" EXACT [OMIM:618076]
xref: DOID:0070421 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618076 {source="MONDO:equivalentTo"}
xref: UMLS:C4748081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648309"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060758
name: spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SCA42ND" RELATED ABBREVIATION [OMIM:618087]
synonym: "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" EXACT [OMIM:618087]
xref: MEDGEN:1648308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618087 {source="MONDO:equivalentTo"}
xref: UMLS:C4748120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648308"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0014776 ! spinocerebellar ataxia type 42

[Term]
id: MONDO:0060759
name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
subset: gard_rare {source="GARD:22396", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:597623"}
subset: orphanet_rare {source="Orphanet:597623"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" EXACT [MONDO:0035363]
synonym: "NEDAMSS" RELATED ABBREVIATION [OMIM:618088]
synonym: "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" EXACT [OMIM:618088]
xref: DOID:0081327 {source="MONDO:equivalentTo"}
xref: GARD:22396 {source="MONDO:GARD"}
xref: MEDGEN:1648345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618088 {source="MONDO:equivalentTo"}
xref: Orphanet:597623 {source="MONDO:equivalentTo"}
xref: UMLS:C4748127 {source="MEDGEN:1648345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14282 {source="Orphanet:597623"} ! IRF2BPL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3541" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060760
name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
subset: otar {source="MONDO:OTAR"}
synonym: "IDDFBA" RELATED ABBREVIATION [OMIM:618089]
synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities" RELATED [OMIM:618089]
synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities" RELATED OMO:0003005 []
xref: MEDGEN:1648498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618089 {source="MONDO:equivalentTo"}
xref: UMLS:C4748135 {source="MEDGEN:1648498", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0060761
name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
subset: otar {source="MONDO:OTAR"}
synonym: "NEDEHCC" RELATED ABBREVIATION [OMIM:618090]
synonym: "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" EXACT [OMIM:618090]
xref: MEDGEN:1648487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618090 {source="MONDO:equivalentTo"}
xref: UMLS:C4748137 {source="MEDGEN:1648487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0060763
name: intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
def: "Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808]
subset: otar {source="MONDO:OTAR"}
synonym: "BCL11B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808]
synonym: "IDDSFTA" RELATED ABBREVIATION [OMIM:618092]
synonym: "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" EXACT [OMIM:618092, OMIM:genemap2]
synonym: "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" RELATED [OMIM:618092]
xref: MEDGEN:1648327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618092 {source="MONDO:equivalentTo"}
xref: UMLS:C4748152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648327"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13222 {source="OMIM:618092", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BCL11B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0060764
name: tetraamelia syndrome 1
subset: gard_rare {source="GARD:15238", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TETAMS1" RELATED ABBREVIATION [OMIM:273395]
synonym: "Tetra-amelia syndrome 1" EXACT [OMIM:273395, OMIM:genemap2]
synonym: "tetraamelia syndrome 1" EXACT [OMIM:273395]
synonym: "tetraamelia syndrome, autosomal recessive" RELATED [OMIM:273395]
xref: DOID:0112192 {source="MONDO:equivalentTo"}
xref: GARD:15238 {source="MONDO:GARD"}
xref: MEDGEN:860705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:273395 {source="MONDO:equivalentTo"}
xref: Orphanet:3301 {source="OMIM:273395"}
xref: UMLS:C4012268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860705"}
is_a: MONDO:0010110 ! tetraamelia-multiple malformations syndrome
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12782 {source="MONDO:mim2gene_medgen"} ! WNT3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0060765
name: fibroepithelial polyp
def: "A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp." [NCIT:C3337]
subset: otar {source="MONDO:OTAR"}
synonym: "fibroepithelial polyp" EXACT [NCIT:C3337]
synonym: "fibropapilloma, benign" EXACT [NCIT:C3337]
xref: NCIT:C3337 {source="MONDO:equivalentTo"}
is_a: MONDO:0005079 {source="NCIT:C3337"} ! polyp

[Term]
id: MONDO:0060766
name: anal polyp
def: "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma." [NCIT:C3957]
synonym: "anal polyp" EXACT [NCIT:C3957]
synonym: "polyp of anus" EXACT [NCIT:C3957]
synonym: "polyp of the anus" EXACT [NCIT:C3957]
xref: MEDGEN:75637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3957 {source="MONDO:equivalentTo"}
xref: SCTID:88580009 {source="MONDO:equivalentTo"}
xref: UMLS:C0267573 {source="MEDGEN:75637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002519 {source="NCIT:C3957"} ! anus disorder
is_a: MONDO:0024292 {source="NCIT:C3957"} ! gastrointestinal polyp
intersection_of: MONDO:0005079 ! polyp
intersection_of: disease_has_location UBERON:0001245 ! anus

[Term]
id: MONDO:0060768
name: gingival fibroepithelial polyp
def: "A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma." [NCIT:C4693]
synonym: "fibroepithelial polyp of gingiva" EXACT [NCIT:C4693]
synonym: "fibroepithelial polyp of gum" EXACT [NCIT:C4693]
synonym: "fibroepithelial polyp of the gingiva" EXACT [NCIT:C4693]
synonym: "fibroepithelial polyp of the gum" EXACT [NCIT:C4693]
synonym: "gingival fibroepithelial polyp" EXACT [NCIT:C4693]
synonym: "gum fibroepithelial polyp" EXACT [NCIT:C4693]
xref: MEDGEN:98314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4693 {source="MONDO:equivalentTo"}
xref: SCTID:235001002 {source="MONDO:equivalentTo"}
xref: UMLS:C0399441 {source="MEDGEN:98314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003396 {source="NCIT:C4693"} ! epulis
is_a: MONDO:0060765 {source="NCIT:C4693"} ! fibroepithelial polyp
intersection_of: MONDO:0060765 ! fibroepithelial polyp
intersection_of: disease_has_location UBERON:0001828 ! gingiva

[Term]
id: MONDO:0060774
name: vaginal fibroepithelial polyp
def: "A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells." [NCIT:C4948]
synonym: "fibroepithelial polyp of the vagina" EXACT [NCIT:C4948]
synonym: "fibroepithelial polyp of vagina" EXACT [NCIT:C4948]
synonym: "vaginal fibroepithelial polyp" EXACT [NCIT:C4948]
synonym: "vaginal fibroepithelial stromal polyp" EXACT [NCIT:C4948]
xref: MEDGEN:152894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4948 {source="MONDO:equivalentTo"}
xref: UMLS:C0750071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152894"}
is_a: MONDO:0021394 {source="NCIT:C4948"} ! polyp of vagina
is_a: MONDO:0060765 {source="NCIT:C4948"} ! fibroepithelial polyp
intersection_of: MONDO:0060765 ! fibroepithelial polyp
intersection_of: disease_has_location UBERON:0000996 ! vagina

[Term]
id: MONDO:0060777
name: cervical fibroepithelial polyp
def: "A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium." [NCIT:C40200]
synonym: "Cervical fibroepithelial polyp" EXACT [NCIT:C40200]
synonym: "uterine cervix fibroepithelial polyp" EXACT [NCIT:C40200]
xref: MEDGEN:308945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C40200 {source="MONDO:equivalentTo"}
xref: UMLS:C1516413 {source="MEDGEN:308945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000751 {source="NCIT:C40200"} ! cervical polyp
is_a: MONDO:0060765 {source="NCIT:C40200"} ! fibroepithelial polyp
intersection_of: MONDO:0060765 ! fibroepithelial polyp
intersection_of: disease_has_location UBERON:0000002 ! uterine cervix

[Term]
id: MONDO:0060778
name: adult Fanconi syndrome
def: "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired." [https://orcid.org/0000-0002-4142-7153, MONDO:patterns/adult]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult Fanconi syndrome" EXACT [NCIT:C4377]
synonym: "adult Fanconi's syndrome" EXACT [NCIT:C4377]
xref: MEDGEN:137960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4377 {source="MONDO:equivalentTo"}
xref: UMLS:C0341703 {source="MEDGEN:137960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001083 {source="NCIT:C4377"} ! Fanconi renotubular syndrome
intersection_of: MONDO:0001083 ! Fanconi renotubular syndrome
intersection_of: has_characteristic HP:0003581 ! Adult onset

[Term]
id: MONDO:0060779
name: acquired Fanconi syndrome
def: "Fanconi Syndrome caused by exposure to noxious agents." [NCIT:C78296]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired Fanconi syndrome" EXACT [NCIT:C78296]
xref: MEDGEN:90966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78296 {source="MONDO:equivalentTo"}
xref: SCTID:236467001 {source="MONDO:equivalentTo"}
xref: UMLS:C0341702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90966"}
is_a: MONDO:0001083 {source="NCIT:C78296"} ! Fanconi renotubular syndrome
intersection_of: MONDO:0001083 ! Fanconi renotubular syndrome
intersection_of: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0060781
name: Preeyasombat-Varavithya syndrome
subset: gard_rare {source="GARD:4476", source="MONDO:GARD"}
subset: rare
synonym: "Fanconi syndrome caused by degraded tetracycline" RELATED [MESH:C535269]
xref: GARD:4476 {source="MONDO:GARD"}
xref: MEDGEN:443919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535269 {source="MONDO:equivalentTo"}
xref: UMLS:C2930859 {source="MEDGEN:443919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0060779 {source="MESH:C535269"} ! acquired Fanconi syndrome
intersection_of: MONDO:0001083 ! Fanconi renotubular syndrome
intersection_of: realized_in_response_to ECTO:9000364 ! exposure to tetracycline

[Term]
id: MONDO:0060782
name: premalignant hematological system disease
def: "A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes." [NCIT:C27274]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "premalignant hematologic condition" EXACT [NCIT:C27274]
xref: MEDGEN:233342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C27274 {source="MONDO:equivalentTo"}
xref: UMLS:C1335471 {source="MEDGEN:233342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005570 {source="NCIT:C27274"} ! hematologic disorder
is_a: MONDO:0021074 ! precancerous condition
intersection_of: MONDO:0021074 ! precancerous condition
intersection_of: disease_has_location UBERON:0002390 ! hematopoietic system

[Term]
id: MONDO:0060783
name: classic congenital adrenal hyperplasia
def: "A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement." [NCIT:C131423]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "classic CAH" EXACT []
synonym: "classic congenital adrenal hyperplasia" EXACT [NCIT:C131423]
xref: MEDGEN:1390311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131423 {source="MONDO:equivalentTo"}
xref: UMLS:C4329672 {source="MEDGEN:1390311", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018479 {source="NCIT:C131423"} ! congenital adrenal hyperplasia
relationship: has_characteristic HP:0012828 ! Severe

[Term]
id: MONDO:0100000
name: MED12-related intellectual disability syndrome
def: "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity." [https://orcid.org/0000-0002-6733-369X, PMID:20301719]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "MED12 X-linked syndromic intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "MED12-related intellectual disability syndrome" EXACT CLINGEN_LABEL []
synonym: "X-linked syndromic intellectual disability caused by mutation in MED12" EXACT []
is_a: MONDO:0020119 {source="MONDO:Redundant", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0002-6733-369X"} ! X-linked syndromic intellectual disability
intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11957 ! MED12
property_value: http://purl.org/dc/elements/1.1/date "2018-03-09T01:45:27Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0100001
name: alpha-gal syndrome
def: "An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal)." [PMID:25747720]
synonym: "AGS" EXACT ABBREVIATION [https://www.cdc.gov/ticks/alpha-gal/index.html]
synonym: "allergic galactose-alpha-1,3-galactose disease" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "alpha-gal allergy" EXACT [https://www.cdc.gov/ticks/alpha-gal/index.html]
synonym: "red meat allergy" EXACT [https://www.cdc.gov/ticks/alpha-gal/index.html]
synonym: "tick bite meat allergy" EXACT [https://www.cdc.gov/ticks/alpha-gal/index.html]
xref: MEDGEN:1778444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5442181 {source="MONDO:equivalentTo", source="MEDGEN:1778444", source="MONDO:MEDGEN"}
is_a: MONDO:0005271 {source="PMID:25747720"} ! allergic disease
property_value: http://purl.org/dc/elements/1.1/date "2018-03-13T04:40:23Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/102" xsd:anyURI

[Term]
id: MONDO:0100002
name: food protein-induced allergic proctocolitis
def: "A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins." [PMID:17584315]
synonym: "allergic proctocolitis" BROAD [https://orcid.org/0000-0001-5208-3432]
synonym: "FPIPC" EXACT ABBREVIATION [https://orcid.org/0000-0001-5208-3432]
synonym: "milk protein proctocololitis" NARROW [https://orcid.org/0000-0001-5208-3432]
xref: MEDGEN:1663071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4750318 {source="MEDGEN:1663071", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000777 ! gastrointestinal allergy
relationship: disease_has_inflammation_site UBERON:0012652 ! colorectum
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/elements/1.1/date "2018-03-14T03:32:19Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100003
name: susceptibility to angioedema induced by ACE inhibitors
def: "An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema." [MONDO:patterns/inherited_susceptibility]
synonym: "angioedema induced by ACE inhibitors, susceptibility to" EXACT [OMIM:300909, OMIM:genemap2]
xref: MEDGEN:813041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300909 {source="MONDO:equivalentTo"}
xref: UMLS:C3806711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813041"}
is_a: MONDO:0020573 {source="OMIM:300909"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12823 ! XPNPEP2
intersection_of: predisposes_towards MONDO:0015057 ! renin-angiotensin-aldosterone system-blocker-induced angioedema
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2760" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100004
name: mast cell activation syndrome
def: "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS)." [MedDRA:10075217, PMID:22555026, PMID:23409940]
subset: gard_rare {source="GARD:12981", source="MONDO:GARD"}
subset: rare
synonym: "disorder of mast cell activation" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process]
synonym: "MACS" EXACT ABBREVIATION []
synonym: "mast cell activation disease" EXACT [MONDO:design_pattern]
xref: GARD:12981 {source="MONDO:GARD"}
xref: MEDGEN:1698540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000090267 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: UMLS:C5200989 {source="MONDO:equivalentTo", source="MEDGEN:1698540", source="MONDO:MEDGEN"}
is_a: MONDO:0004805 ! leukocyte disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_disruption_of GO:0045576 ! mast cell activation
property_value: http://purl.org/dc/elements/1.1/date "2018-07-17T21:32:53Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0100005
name: obsolete primary mast cell activation syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7326" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0033954

[Term]
id: MONDO:0100006
name: secondary mast cell activation syndrome
def: "Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells." [PMID:23409940]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "secondary MACS" EXACT []
xref: MEDGEN:1843472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4267895 {source="MEDGEN:1843472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100004 {source="https://orcid.org/0000-0001-5208-3432"} ! mast cell activation syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-07-17T21:45:26Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100007
name: obsolete chronic inflammatory demyelinating polyneuropathy
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3697" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0006702

[Term]
id: MONDO:0100008
name: food protein-induced enterocolitis syndrome
def: "An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated." [PMID:25746969]
synonym: "delayed food allergy" EXACT []
synonym: "FPIES" EXACT ABBREVIATION []
xref: MEDGEN:1623554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4268599 {source="MEDGEN:1623554", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009172 {source="https://orcid.org/0000-0001-5208-3432"} ! enterocolitis
property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T21:10:26Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100009
name: structural congenital heart disease, multiple types - GATA4
def: "Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene." [https://clinicalgenome.org/affiliation/40130/, MONDO:patterns/disease_series_by_gene, PMID:15810002, PMID:18672102, PMID:22101736, PMID:28991257]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease
intersection_of: MONDO:0005453 ! congenital heart disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5796" xsd:anyURI

[Term]
id: MONDO:0100010
name: tendinopathy
def: "Disorders that are causes by overuse of tendons." [PMID:19188560]
subset: otar {source="MONDO:OTAR"}
synonym: "disease of tendon" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "disease or disorder of tendon" EXACT []
synonym: "disorder of tendon" EXACT [MONDO:design_pattern, MONDO:patterns/location_top]
synonym: "tendon disease" EXACT [MONDO:design_pattern]
synonym: "tendon disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: EFO:1001434 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:M65-M67 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:508839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D052256 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: SCTID:68172002 {source="MONDO:equivalentTo"}
xref: UMLS:C0151936 {source="MONDO:equivalentTo", source="MEDGEN:508839", source="MONDO:MEDGEN"}
is_a: MONDO:0003900 {source="MONDO:Redundant"} ! connective tissue disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0000043 ! tendon
property_value: http://purl.org/dc/elements/1.1/date "2018-07-17T15:51:39Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0100011
name: tendinosis
def: "The chronic degeneration of a tendon without inflammation." [PMID:27469590]
xref: MEDGEN:293673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:724152009 {source="MONDO:equivalentTo"}
xref: UMLS:C1568363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:293673"}
is_a: MONDO:0100010 ! tendinopathy
property_value: http://purl.org/dc/elements/1.1/date "2018-07-17T15:58:43Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100012
name: paratenonitis
def: "Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium." [PMID:14560540]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0004857 ! tendinitis
property_value: http://purl.org/dc/elements/1.1/date "2018-07-17T16:02:16Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100013
name: paratenonitis with tendinosis
def: "Paratenonitis associated with intratendinous degeneration." [PMID:14560540]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0100012 {source="https://orcid.org/0000-0001-5208-3432"} ! paratenonitis
property_value: http://purl.org/dc/elements/1.1/date "2018-07-17T16:02:57Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100014
name: autoimmune retinopathy
def: "An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss." [PMID:29721944]
synonym: "AIR" EXACT ABBREVIATION []
synonym: "autoimmune disease of retina" EXACT [MONDO:design_pattern]
synonym: "retina autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location]
xref: MEDGEN:1388012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:724809006 {source="MONDO:equivalentTo"}
xref: UMLS:C3203657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388012"}
is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat
intersection_of: MONDO:0007179 ! autoimmune disease
intersection_of: disease_has_location UBERON:0000966 ! retina
property_value: http://purl.org/dc/elements/1.1/date "2018-05-23T00:32:51Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100015
name: adult-onset segmental dystonia
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "an adult-onset, focal or segmental, isolated dystonia that is characterised by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years)." EXACT OMO:0003005 []
synonym: "an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years)." EXACT [PMID:23222958]
synonym: "DYT-GNAL" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
is_a: MONDO:0000479 {source="https://orcid.org/0000-0002-6601-2165"} ! segmental dystonia
is_a: MONDO:0015990 ! focal, segmental or multifocal dystonia
property_value: http://purl.org/dc/elements/1.1/date "2018-05-25T20:41:39Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100016
name: early-onset generalized dystonia
def: "A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population." [https://www.ncbi.nlm.nih.gov/books/NBK1155/, PMID:27839873, PMID:27992417]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DYT-KMT2B" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
synonym: "early-onset generalised isolated dystonia" RELATED OMO:0003005 []
synonym: "early-onset generalized isolated dystonia" RELATED []
synonym: "early-onset, generalised dystonia with mild syndromic features" EXACT OMO:0003005 []
synonym: "early-onset, generalized dystonia with mild syndromic features" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
is_a: MONDO:0000476 {source="https://orcid.org/0000-0001-5208-3432"} ! generalized dystonia
property_value: http://purl.org/dc/elements/1.1/date "2018-05-25T20:53:07Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100017
name: pityriasis rubra pilaris
def: "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP)." [GARD:0007401]
subset: gard_rare {source="GARD:7401", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1582"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:9212 {source="MONDO:equivalentTo"}
xref: GARD:7401 {source="MONDO:GARD"}
xref: ICD10CM:L44.0 {source="MONDO:equivalentTo", source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"}
xref: ICD9:696.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9212"}
xref: MEDGEN:45939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D010916 {source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"}
xref: NCIT:C85014 {source="MONDO:equivalentTo", source="DOID:9212"}
xref: NORD:1582 {source="MONDO:NORD"}
xref: SCTID:3755001 {source="MONDO:equivalentTo", source="DOID:9212"}
xref: UMLS:C0032027 {source="MEDGEN:45939", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006547 {source="https://orcid.org/0000-0001-5208-3432"} ! exanthem
is_a: MONDO:0019270 {source="https://orcid.org/0000-0001-5208-3432"} ! erythrokeratoderma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3470" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris" xsd:string {source="GARD:0007401"}

[Term]
id: MONDO:0100018
name: adult onset pityriasis rubra pilaris
def: "A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life." [https://www.uptodate.com/contents/pityriasis-rubra-pilaris-pathogenesis-clinical-manifestations-and-diagnosis] {source="PMID:15419810", source="PMID:26963004", source="PMID:7398119", source="PMID:33771592"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult onset PRP" EXACT [GARD:0007401]
is_a: MONDO:0100017 {source="GARD:0007401", source="PMID:15419810", source="PMID:26963004", source="PMID:33771592", source="PMID:7398119"} ! pityriasis rubra pilaris
intersection_of: MONDO:0100017 ! pityriasis rubra pilaris
intersection_of: has_characteristic HP:0003581 ! Adult onset
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3470" xsd:anyURI

[Term]
id: MONDO:0100019
name: ECHS1-related paroxysmal dyskinesia
def: "A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years." [https://www.ncbi.nlm.nih.gov/books/NBK1155/, PMID:28039521]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia" EXACT [PMID:28039521]
is_a: MONDO:0015427 {source="https://orcid.org/0000-0001-5208-3432"} ! paroxysmal dyskinesia
property_value: http://purl.org/dc/elements/1.1/date "2018-05-25T21:46:36Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100020
name: atypical childhood epilepsy with centrotemporal spikes
def: "A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/atypical-ects-overview.html]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "atonic-benign childhood epilepsy with centrotemporal spikes" EXACT []
synonym: "atypical benign partial epilepsy of childhood" EXACT []
synonym: "pseudo-Lennox syndrome" EXACT []
is_a: MONDO:0020072 ! childhood-onset epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T22:43:29Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100021
name: photosensitive occipital lobe epilepsy
def: "A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/idiophatic-pole-overview.html]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0020072 ! childhood-onset epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T22:48:33Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/idiophatic-pole-overview.html" xsd:anyURI

[Term]
id: MONDO:0100022
name: neonatal/infantile epilepsy syndrome
def: "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life." []
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0015650 {source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T23:34:03Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8486-0558
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1640" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100023
name: self-limited familial neonatal epilepsy
def: "A neonatal/infantile epilepsy syndrome that is characterized by the onset of seizures that start in the in the neonate between day 1 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have typical developmental progress." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/self-limited-neonatal-overview.html, PMID:28276062]
comment: Some cases have seizure onset just outside of the neonatal period (in the first 2 months of life), and the syndrome in this case is called self-limited familial neonatal-infantile epilepsy.
synonym: "self-limited familial and non-familial neonatal seizures" EXACT [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/self-limited-neonatal-overview.html]
synonym: "self-limited familial neonatal-infantile epilepsy" NARROW []
is_a: MONDO:0100207 {source="https://clinicalgenome.org/affiliation/40005/"} ! infantile-onset epilepsy
relationship: excluded_subClassOf MONDO:0100022 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T23:38:16Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4940" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5740" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/benign-fam-nonfam-infantile-overview.html" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/self-limited-neonatal-overview.html" xsd:anyURI

[Term]
id: MONDO:0100024
name: self-limited familial infantile epilepsy
def: "This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/benign-fam-nonfam-infantile-overview.html]
synonym: "self-limited familial and non-familial infantile seizures" EXACT [https://clinicalgenome.org/affiliation/40005/]
is_a: MONDO:0100207 {source="https://clinicalgenome.org/affiliation/40005/"} ! infantile-onset epilepsy
relationship: excluded_subClassOf MONDO:0100022 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T23:46:09Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5740" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5792" xsd:anyURI

[Term]
id: MONDO:0100025
name: epilepsy of infancy with migrating focal seizures
def: "This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/infancy-migrating-focal-overview.html]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:1381392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200595 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: SCTID:733195008 {source="MONDO:equivalentTo"}
xref: UMLS:C4518639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381392"}
is_a: MONDO:0100022 {source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T23:54:03Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/infancy-migrating-focal-overview.html" xsd:anyURI

[Term]
id: MONDO:0100026
name: myoclonic encephalopathy in non-progressive disorder
def: "This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/menpd-overview.html]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0100022 {source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T23:56:39Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100027
name: obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3442" xsd:anyURI
is_obsolete: true
consider: MONDO:0018214

[Term]
id: MONDO:0100028
name: immune epilepsy
def: "Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/etiology/immune-groupoverview.html]
xref: MEDGEN:1371634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4510729 {source="MEDGEN:1371634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="https://orcid.org/0000-0001-8486-0558"} ! epilepsy
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T00:11:14Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100029
name: antibody mediated epilepsy
def: "An immune epilepsy where the underlying cause is antibody mediated." [https://www.epilepsydiagnosis.org/etiology/antibody-mediated-overview.html]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
is_a: MONDO:0100028 ! immune epilepsy
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T00:52:42Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html" xsd:anyURI

[Term]
id: MONDO:0100030
name: adolescent/adult-onset epilepsy syndrome
def: "An epilepsy syndrome that has an onset during the adolescent or adult stage of life." []
comment: This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0015650 {source="https://orcid.org/0000-0001-8486-0558"} ! epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T01:43:18Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8486-0558
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1640" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100031
name: adolescent/adult onset autosomal dominant epilepsy with auditory features
def: "A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled." [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "autosomal dominant partial/lateral temporal epilepsy with auditory features" EXACT [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html]
is_a: MONDO:0010898 {source="https://github.com/monarch-initiative/mondo/issues/1764"} ! autosomal dominant epilepsy with auditory features
is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T01:47:18Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html" xsd:anyURI

[Term]
id: MONDO:0100032
name: obsolete familial temporal lobe epilepsy syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7349" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0005115

[Term]
id: MONDO:0100033
name: metabolic epilepsy
def: "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html]
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:1843497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4524099 {source="MEDGEN:1843497", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="https://orcid.org/0000-0001-8486-0558"} ! epilepsy
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T18:55:00Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html" xsd:anyURI

[Term]
id: MONDO:0100034
name: cerebral folate deficiency
def: "Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:893131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4022901 {source="MEDGEN:893131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005528 ! inborn vitamin metabolic disorder
is_a: MONDO:0100033 ! metabolic epilepsy
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T19:01:19Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#cerebral" xsd:anyURI

[Term]
id: MONDO:0100035
name: structural epilepsy
def: "Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/etiology/structural-groupoverview.html]
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:1843494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4524097 {source="MEDGEN:1843494", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005027 {source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T19:24:32Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100036
name: variable age onset epilepsy
def: "An epilepsy syndrome that has an onset during variable ages and stages of life." [https://www.epilepsydiagnosis.org/syndrome/ffevf-overview.html#]
synonym: "variable age at onset electroclinical syndrome" BROAD [DOID:0050706]
xref: DOID:0050706 {source="MONDO:equivalentTo"}
is_a: MONDO:0005027 {source="https://orcid.org/0000-0001-8486-0558"} ! epilepsy
property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T19:42:08Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8486-0558

[Term]
id: MONDO:0100037
name: juvenile onset pityriasis rubra pilaris
def: "A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life." [https://www.uptodate.com/contents/pityriasis-rubra-pilaris-pathogenesis-clinical-manifestations-and-diagnosis, MONDO:patterns/juvenile, PMID:12196748, PMID:18819727, PMID:8050142]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "juvenile onset PRP" EXACT [GARD:0007401]
is_a: MONDO:0100017 {source="GARD:0007401", source="PMID:12196748", source="PMID:18819727", source="PMID:8050142"} ! pityriasis rubra pilaris
intersection_of: MONDO:0100017 ! pityriasis rubra pilaris
intersection_of: has_characteristic HP:0003621 ! Juvenile onset
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3470" xsd:anyURI

[Term]
id: MONDO:0100038
name: complex neurodevelopmental disorder
def: "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)." [https://orcid.org/0000-0002-6733-369X, https://www.clinicalgenome.org/working-groups/clinical-domain/neurodevelopmental-disorders/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17965", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:528084"}
subset: orphanet_rare {source="Orphanet:528084"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complex neurodevelopmental disorder" EXACT CLINGEN_LABEL []
xref: GARD:17965 {source="MONDO:GARD"}
xref: MEDGEN:1800189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:528084 {source="MONDO:equivalentTo"}
xref: UMLS:C5568766 {source="MEDGEN:1800189", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0019117 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6733-369X"} ! obsolete genetic nervous system disorder
property_value: http://purl.org/dc/elements/1.1/date "2018-06-29T18:21:11Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7308" xsd:anyURI

[Term]
id: MONDO:0100039
name: CDKL5 disorder
def: "A monogenic disease that has material basis in mutation in the CDKL5 gene." [PMID:21154482, PMID:22872100, PMID:27080038, PMID:27528505]
comment: Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. {xref="https://orcid.org/0000-0002-6733-369X"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:904"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CDKL5" RELATED ABBREVIATION [GARD:0012173]
synonym: "CDKL5 Deficiency Disorder" EXACT [NORD:904]
synonym: "CDKL5 disorder" EXACT CLINGEN_LABEL []
synonym: "CDKL5 inherited genetic disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CDKL5-related disorder" RELATED [GARD:0012173]
synonym: "inherited genetic disease caused by mutation in CDKL5" EXACT [MONDO:design_pattern]
xref: NORD:904 {source="MONDO:NORD"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: MONDO:0003847 ! hereditary disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11411 ! CDKL5
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0000594 {source="https://orcid.org/0000-0001-5208-3432"} ! pervasive developmental disorder
relationship: excluded_subClassOf MONDO:0015653 {source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: excluded_subClassOf MONDO:0017656 {source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete motor stereotypies
relationship: excluded_subClassOf MONDO:0020119 {source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680", source="MONDO:0015983"} ! rare
property_value: http://purl.org/dc/elements/1.1/date "2018-06-29T18:32:48Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/202" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0100040
name: FOXG1 disorder
def: "A monogenic disease that has material basis in mutation in the FOXG1 gene." []
comment: Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. {xref="https://orcid.org/0000-0002-6733-369X"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FOXG1 disorder" EXACT CLINGEN_LABEL []
synonym: "FOXG1 inherited genetic disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "inherited genetic disease caused by mutation in FOXG1" EXACT []
is_a: MONDO:0000594 {source="https://clinicalgenome.org/affiliation/50022/", source="https://orcid.org/0000-0001-5208-3432"} ! pervasive developmental disorder
is_a: MONDO:0015653 {source="https://clinicalgenome.org/affiliation/50022/", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
intersection_of: MONDO:0003847 ! hereditary disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3811 ! FOXG1
relationship: disease_has_feature MONDO:0005027 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy
relationship: excluded_subClassOf MONDO:0000508 {source="https://clinicalgenome.org/affiliation/50022/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015653 {source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015680", source="MONDO:0015983"} ! rare
property_value: http://purl.org/dc/elements/1.1/date "2018-06-29T19:29:48Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0100041
name: secondary trimethylaminuria
def: "A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine." [https://rarediseases.org/rare-diseases/trimethylaminuria/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0011182 {source="https://rarediseases.org/rare-diseases/trimethylaminuria/"} ! trimethylaminuria
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3448" xsd:anyURI
property_value: seeAlso "https://rarediseases.org/rare-diseases/trimethylaminuria/" xsd:string

[Term]
id: MONDO:0100042
name: cardiac conduction defect
synonym: "cardiac conduction disorder" BROAD [NCIT:C78245]
synonym: "conduction disorder" BROAD [NCIT:C78245]
synonym: "disorder of cardiac conduction" BROAD [NCIT:C78245]
synonym: "heart conduction disorder" BROAD [NCIT:C78245]
xref: MEDGEN:78114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C78245 {source="MONDO:mondoIsBroaderThanSource"}
xref: OMIM:115080 {source="EFO:0004278", source="MONDO:equivalentTo"}
xref: Orphanet:871 {source="MONDO:relatedTo", source="OMIM:115080"}
xref: UMLS:C0264886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78114"}
is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2419" xsd:anyURI

[Term]
id: MONDO:0100043
name: epidermodysplasia verruciformis, susceptibility to
comment: An inherited susceptibility or predisposition to developing epidermodysplasia verruciformis. {xref="MONDO:patterns/inherited_susceptibility"}
xref: OMIMPS:226400 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:226400"} ! inherited
relationship: predisposes_towards MONDO:0009176 ! epidermodysplasia verruciformis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100044
name: acrofrontofacionasal dysostosis 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "acrofrontofacionasal dysostosis 1" EXACT [OMIM:201180]
synonym: "acrofrontofacionasal dysostosis type 1" EXACT [MONDORULE:1, OMIM:201180]
synonym: "AFFN dysostosis 1" EXACT [OMIM:201180]
xref: MEDGEN:1632008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C538186 {source="DOID:0060226", source="MONDO:equivalentTo"}
xref: OMIM:201180 {source="Orphanet:1784", source="DOID:0060226", source="MONDO:equivalentTo", source="Orphanet:1784/e"}
xref: UMLS:C4551987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632008"}
is_a: MONDO:0008715 {source="OMIM:201180"} ! acrofrontofacionasal dysostosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100045
name: epidermodysplasia verruciformis, susceptibility to, 1
synonym: "epidermodysplasia verruciformis 1" EXACT [OMIM:618231]
synonym: "EV1" EXACT ABBREVIATION [OMIM:618231]
xref: MEDGEN:1648341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:226400 {source="MONDO:equivalentTo"}
xref: UMLS:C4722564 {source="MEDGEN:1648341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100043 {source="OMIM:226400", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0009176 ! epidermodysplasia verruciformis
intersection_of: RO:0004001 http://identifiers.org/hgnc/18021 ! has material basis in gain of function germline mutation in TMC6
relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:226400", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: predisposes_towards MONDO:0009176 {source="OMIM:226400"} ! epidermodysplasia verruciformis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100046
name: exfoliation syndrome, susceptibility to
def: "An inherited susceptibility or predisposition to developing exfoliation syndrome." [MONDO:patterns/inherited_susceptibility]
synonym: "pseudoexfoliation glaucoma" RELATED [OMIM:177650]
synonym: "pseudoexfoliation of the lens" RELATED [OMIM:177650]
synonym: "pseudoexfoliation syndrome" RELATED [OMIM:177650]
xref: MEDGEN:864692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:177650 {source="MONDO:equivalentTo"}
xref: UMLS:C4016255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864692"}
is_a: MONDO:0020573 {source="OMIM:177650"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0008327 ! exfoliation syndrome
intersection_of: RO:0004001 http://identifiers.org/hgnc/6665 ! has material basis in gain of function germline mutation in LOXL1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100047
name: basal cell carcinoma, susceptibility to
def: "An inherited susceptibility or predisposition to developing basal cell carcinoma." [MONDO:patterns/inherited_susceptibility]
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100048
name: graft-versus-host disease, susceptibility to
def: "An inherited susceptibility or predisposition to developing graft vs. host disease." [MONDO:patterns/inherited_susceptibility]
synonym: "GVHDS" EXACT ABBREVIATION [OMIM:614395]
xref: MEDGEN:482307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614395 {source="MONDO:equivalentTo"}
xref: UMLS:C3280677 {source="MEDGEN:482307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:614395"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0013730 {source="OMIM:614395"} ! graft versus host disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5493" xsd:anyURI

[Term]
id: MONDO:0100049
name: narcolepsy, susceptibility to
def: "An inherited susceptibility or predisposition to developing narcolepsy." [MONDO:patterns/inherited_susceptibility]
is_a: MONDO:0020573 {source="OMIMPS:161400"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0021107 ! narcolepsy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100050
name: Usher syndrome, type 1D/F
def: "Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes." [MONDO:patterns/OMIM_disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "USH1D/F, CDH23/PCDH15, digenic" RELATED [OMIM:601067]
synonym: "Usher syndrome, type 1D/F, CDH23/PCDH15, digenic" EXACT [OMIM:601067]
xref: OMIM:601067 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0010168 {source="OMIM:601067"} ! Usher syndrome type 1
intersection_of: MONDO:0010168 ! Usher syndrome type 1
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13733 ! CDH23
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14674 ! PCDH15
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100051
name: idiopathic mast cell activation syndrome
def: "Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable." [PMID:23409940]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "idiopathic MACS" EXACT []
xref: MEDGEN:1786072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4267894 {source="MEDGEN:1786072", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100004 {source="https://orcid.org/0000-0001-5208-3432"} ! mast cell activation syndrome
intersection_of: MONDO:0100004 ! mast cell activation syndrome
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
property_value: http://purl.org/dc/elements/1.1/date "2018-07-17T21:46:53Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100052
name: acetazolamide-responsive hereditary episodic ataxia
def: "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide." [PMID:23677664]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0016227 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary episodic ataxia
intersection_of: MONDO:0016227 ! hereditary episodic ataxia
intersection_of: disease_responds_to CHEBI:27690 ! acetazolamide
property_value: http://purl.org/dc/elements/1.1/date "2018-07-25T17:53:07Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100053
name: anaphylaxis
def: "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting." [NCIT:C107101]
subset: otar {source="MONDO:OTAR"}
synonym: "anaphylactic shock" EXACT []
synonym: "systemic anaphylaxis" EXACT [PMID:18596587]
xref: MedDRA:10002198
xref: MEDGEN:1373755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000707 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C107101 {source="MONDO:equivalentTo"}
xref: SCTID:39579001 {source="MONDO:equivalentTo"}
xref: UMLS:C4316895 {source="MEDGEN:1373755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000605 ! hypersensitivity reaction disease
property_value: http://purl.org/dc/elements/1.1/date "2018-08-15T17:39:34Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4614" xsd:anyURI

[Term]
id: MONDO:0100054
name: idiopathic anaphylaxis
def: "Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment." [PMID:28890861]
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:595022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:241954008 {source="MONDO:equivalentTo"}
xref: UMLS:C0413235 {source="MEDGEN:595022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100053 {source="https://orcid.org/0000-0001-5208-3432"} ! anaphylaxis
intersection_of: MONDO:0100053 ! anaphylaxis
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
property_value: http://purl.org/dc/elements/1.1/date "2018-08-15T17:39:53Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100055
name: intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements
def: "Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene." [NCIT:C178236]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "intraosseous rhabdomyosarcoma defined by FUS-TFCP2 fusion" RELATED [https://orcid.org/0000-0001-5208-3432]
synonym: "intraosseous rhabdomyosarcoma with FUS-TFCP2 fusion" NARROW [https://orcid.org/0000-0001-5208-3432]
xref: MEDGEN:1791329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C178236 {source="MONDO:equivalentTo"}
xref: UMLS:C5554888 {source="MEDGEN:1791329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002581 {source="NCIT:C178236"} ! spindle cell rhabdomyosarcoma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100056
name: exercise-induced anaphylaxis
def: "A rare disorder in which anaphylaxis occurs in association with physical activity." [GARD:0006392]
synonym: "EIAn" EXACT [GARD:0006392]
xref: MEDGEN:576137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0344183 {source="MONDO:equivalentTo", source="MEDGEN:576137", source="MONDO:MEDGEN"}
is_a: MONDO:0100053 {source="https://orcid.org/0000-0001-5208-3432"} ! anaphylaxis
property_value: http://purl.org/dc/elements/1.1/date "2018-08-15T17:51:10Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis" xsd:anyURI {source="GARD:0006392"}

[Term]
id: MONDO:0100057
name: food-dependent exercise-induced anaphylaxis
def: "A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis." [GARD:0006392]
xref: MEDGEN:1780757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5546138 {source="MEDGEN:1780757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100056 {source="https://orcid.org/0000-0001-5208-3432"} ! exercise-induced anaphylaxis
property_value: http://purl.org/dc/elements/1.1/date "2018-08-15T17:55:08Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis" xsd:anyURI {source="GARD:0006392"}

[Term]
id: MONDO:0100058
name: hypervalinemia and hyperleucine-isoleucinemia
def: "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids." [PMID:25653144]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "branched-chain aminotransferase deficiency" EXACT [OMIM:618850]
synonym: "HVLI" EXACT ABBREVIATION [OMIM:618850]
synonym: "hypervalinemia and hyperleucine-isoleucinemia" EXACT CLINGEN_LABEL [OMIM:618850]
synonym: "hypervalinemia or hyperleucine-isoleucinemia" EXACT [OMIM:618850, OMIM:genemap2]
xref: DOID:0060950 {source="MONDO:equivalentTo"}
xref: MEDGEN:1719306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618850 {source="MONDO:equivalentTo"}
xref: UMLS:C5394277 {source="MEDGEN:1719306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019242 ! inborn disorder of branched-chain amino acid metabolism
relationship: disease_has_feature HP:0010910 ! Hypervalinemia
relationship: disease_has_feature HP:0010911 ! Hyperleucinemia
property_value: http://purl.org/dc/elements/1.1/date "2018-08-31T20:51:10Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100059
name: hypereosinophilia of undetermined significance
def: "Long-lasting, unexplained and asymptomatic blood hypereosinophilia." [PMID:24338273]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "benign eosinophilia" EXACT []
synonym: "HEUS" EXACT ABBREVIATION []
xref: MEDGEN:1812275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5666804 {source="MEDGEN:1812275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015691 ! hypereosinophilic syndrome
property_value: http://purl.org/dc/elements/1.1/date "2018-09-12T23:02:52Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100060
name: congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements
def: "Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes." [NCIT:C178232]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1791325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C178232 {source="MONDO:equivalentTo"}
xref: UMLS:C5554884 {source="MEDGEN:1791325", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002581 {source="NCIT:C178232"} ! spindle cell rhabdomyosarcoma
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0100061
name: PRPS1 deficiency disorder
def: "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss." [PMID:17701900, PMID:20021999, PMID:25182139, PMID:25491489, PMID:25785835, PMID:27256512, PMID:27886419]
comment: Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PRPS1 deficiency disorder" EXACT CLINGEN_LABEL []
synonym: "PRPS1-related CMTX5/Arts syndrome/XLNSHL" EXACT []
is_a: MONDO:0005244 {source="PMID:17701900, PMID:20021999, PMID:25182139, PMID:25491489, PMID:25785835, PMID:27256512, PMID:27886419"} ! peripheral neuropathy
relationship: disease_has_feature MONDO:0010533 {source="https://orcid.org/0000-0001-5208-3432"} ! Arts syndrome
relationship: disease_has_feature MONDO:0015626 {source="MONDO:agrant9394"} ! Charcot-Marie-Tooth disease
relationship: disease_has_feature MONDO:0019497 {source="MONDO:agrant9394"} ! nonsyndromic genetic hearing loss
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 ! PRPS1
property_value: http://purl.org/dc/elements/1.1/date "2018-10-10T21:18:33Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100062
name: developmental and epileptic encephalopathy
def: "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." [PMID:28276062]
comment: Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. {xref="PMID:26544041", xref="PMID:26704558", xref="PMID:26645412", xref="PMID:26993267", xref="PMID:27476654"}
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:9255", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_clinical_syndrome {source="Orphanet:1934"}
subset: ordo_disorder {source="Orphanet:1934"}
subset: orphanet_rare {source="Orphanet:1934"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DEE" EXACT ABBREVIATION []
synonym: "developmental and epileptic encephalopathy" EXACT CLINGEN_LABEL [https://orcid.org/0000-0001-8486-0558]
synonym: "early infantile epileptic encephalopathy" EXACT [DOID:0050709, MONDO:0016021]
synonym: "early infantile epileptic encephalopathy with burst-suppression" EXACT [DOID:0050709]
synonym: "early infantile epileptic encephalopathy with suppression-bursts" EXACT [Orphanet:1934]
synonym: "EIEE" EXACT ABBREVIATION [Orphanet:1934]
synonym: "epileptic encephalopathy, early infantile" EXACT [DOID:2481]
synonym: "epileptic encephalopathy, early infantile, 15" RELATED EXCLUDE [DOID:0050709]
synonym: "epileptic encephalopathy, infantile" EXACT [DOID:2481]
synonym: "infantile epileptic encephalopathy" EXACT [MONDO:0006508]
synonym: "infantile spasm" EXACT [DOID:2481]
synonym: "Ohtahara syndrome" EXACT [MONDO:0000418, Orphanet:1934]
xref: DOID:0050709 {source="MONDO:equivalentTo"}
xref: DOID:0112202 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: DOID:2481 {source="MONDO:equivalentObsolete", source="EFO:1000643"}
xref: GARD:9255 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:1934", source="Orphanet:1934/attributed", source="Orphanet:1934/ntbt"}
xref: ICD10CM:G40.82 {source="DOID:2481"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: ICD9:345.6 {source="DOID:2481"}
xref: MedDRA:10071545 {source="Orphanet:1934/e", source="Orphanet:1934"}
xref: MEDGEN:97959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013036 {source="DOID:2481"}
xref: NANDO:1200593 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C122814 {source="MONDO:equivalentTo"}
xref: NCIT:C84788 {source="MONDO:directSiblingOf", source="DOID:2481"}
xref: OMIMPS:308350 {source="MONDO:pnr", source="MONDO:equivalentTo"}
xref: Orphanet:1934 {source="MONDO:equivalentTo"}
xref: SCTID:155042008 {source="DOID:2481"}
xref: SCTID:193014002 {source="DOID:2481"}
xref: SCTID:193015001 {source="DOID:2481"}
xref: SCTID:193016000 {source="DOID:2481"}
xref: SCTID:230429005 {source="MONDO:equivalentTo"}
xref: SCTID:28055006 {source="MONDO:directSiblingOf", source="DOID:2481"}
xref: SCTID:288197007 {source="DOID:2481"}
xref: UMLS:C0393706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:97959"}
is_a: MONDO:0005579 {source="DOID:2481"} ! epilepsy, idiopathic generalized
is_a: MONDO:0100022 {source="Orphanet:1934", source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome
is_a: MONDO:0100038 {source="https://orcid.org/0000-0003-1245-3907"} ! complex neurodevelopmental disorder
relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:1934", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy
relationship: excluded_subClassOf MONDO:0024321 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:308350"} ! inherited
property_value: http://purl.org/dc/elements/1.1/date "2018-10-10T22:04:15Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/19" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/ohtahara-overview.html" xsd:anyURI

[Term]
id: MONDO:0100063
name: Pericytoma with t(7;12)
def: "A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation." [PMID:15111311]
synonym: "Pericytoma t(7;12)" EXACT []
xref: DOID:0080896 {source="MONDO:equivalentTo"}
is_a: MONDO:0002604 ! pericytic neoplasm
property_value: http://purl.org/dc/elements/1.1/date "2018-11-09T22:50:48Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100064
name: tyrosine hydroxylase deficiency
def: "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)." [https://orcid.org/0000-0002-5655-9589, PMID:20301610]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TH deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "tyrosine 3-monooxygenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
synonym: "tyrosine Hydroxylase deficiency" EXACT [OMIM:605407]
synonym: "tyrosine hydroxylase deficiency" EXACT CLINGEN_LABEL []
xref: MEDGEN:1814581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200595 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C157158 {source="MONDO:equivalentTo"}
xref: Orphanet:101150
xref: UMLS:C5700309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814581"}
is_a: MONDO:0019219 ! inborn disorder of neurotransmitter metabolism and transport
property_value: http://purl.org/dc/elements/1.1/date "2018-11-09T23:43:34Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100065
name: TH-deficient infantile parkinsonism and motor delay
def: "A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor)." [https://orcid.org/0000-0002-5655-9589, PMID:20301610]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "tyrosine hydroxylase infantile parkinsonism and motor delay" EXACT []
is_a: MONDO:0100064 ! tyrosine hydroxylase deficiency
property_value: http://purl.org/dc/elements/1.1/date "2018-11-10T00:07:39Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100066
name: TH-deficient progressive infantile encephalopathy
def: "A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias." [https://orcid.org/0000-0002-5655-9589, PMID:20301610]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
synonym: "tyrosine hydroxylase-deficient progressive infantile encephalopathy" EXACT [https://orcid.org/0000-0002-5655-9589]
is_a: MONDO:0100064 ! tyrosine hydroxylase deficiency
property_value: http://purl.org/dc/elements/1.1/date "2018-11-10T00:10:46Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100067
name: childhood spindle cell rhabdomyosarcoma
def: "A spindle cell rhabdomyosarcoma occurring in children." [NCIT:C123397]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:882003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123397 {source="MONDO:equivalentTo"}
xref: UMLS:C4055242 {source="MONDO:equivalentTo", source="MEDGEN:882003", source="MONDO:MEDGEN"}
is_a: MONDO:0002581 {source="NCIT:C123397"} ! spindle cell rhabdomyosarcoma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100068
name: SLC10A7-congenital disorder of glycosylation
def: "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen." [https://orcid.org/0000-0001-9969-8610, PMID:29878199]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: rare
synonym: "SLC10A7 deficiency" EXACT []
synonym: "SLC10A7-CDG" EXACT ABBREVIATION []
synonym: "SLC10A7-congenital disorder of glycosylation" EXACT CLINGEN_LABEL []
is_a: MONDO:0005381 ! bone disorder
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
intersection_of: MONDO:0015286 ! congenital disorder of glycosylation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23088 ! SLC10A7
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015958"} ! rare
property_value: http://purl.org/dc/elements/1.1/date "2018-12-14T19:28:28Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100069
name: hearing impairment and infertile male syndrome
def: "A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology." [https://orcid.org/0000-0003-1245-3907, PMID:29293958]
comment: There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958).
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "hearing impairment and infertile male syndrome" EXACT CLINGEN_LABEL []
synonym: "HIIMS" EXACT ABBREVIATION []
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: http://purl.org/dc/elements/1.1/date "2018-12-17T19:16:55Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100070
name: neuroendocrine disorder
def: "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli." []
subset: otar {source="MONDO:OTAR"}
synonym: "neuroendocrine system disease" EXACT []
xref: MEDGEN:1843486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0541403 {source="MEDGEN:1843486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 ! nervous system disorder
is_a: MONDO:0005151 ! endocrine system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_location UBERON:0010133 ! neuroendocrine gland
property_value: http://purl.org/dc/elements/1.1/date "2018-12-17T22:24:52Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100071
name: cardiocutaneous syndrome
def: "Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation." [PMID:27933191]
xref: MEDGEN:1843498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0543816 {source="MONDO:equivalentTo", source="MEDGEN:1843498", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
property_value: http://purl.org/dc/elements/1.1/date "2019-01-18T17:28:41Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100072
name: neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts
def: "Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients." [PMID:27217304, PMID:28468959]
comment: This phenotype has been found in association with de novo heterozygous variants in WFS1. The mechanism for disease has been proposed as gain-of-function by De Franco et al 2017 (PMID:28468959). The mechanism for disease and severity of phenotype distinguish these affected individuals from Wolfram-like syndrome patients, which have also been linked to heterozygous WFS1 variants (non-de novo).
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: http://purl.org/dc/elements/1.1/date "2019-01-23T23:06:10Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/582" xsd:anyURI

[Term]
id: MONDO:0100073
name: methicillin-resistant staphylococcus aureus infectious disease
def: "Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins." [https://orcid.org/0000-0002-1382-4768, MESH:D055624]
subset: otar {source="MONDO:OTAR"}
synonym: "MRSA" EXACT ABBREVIATION []
xref: EFO:0008555 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:575565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0343401 {source="MONDO:equivalentTo", source="MEDGEN:575565", source="MONDO:MEDGEN"}
is_a: MONDO:0005545 ! staphylococcus aureus infection
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100074
name: norovirus infectious disease
def: "Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans." [https://orcid.org/0000-0002-1382-4768, MESH:D029322]
is_a: MONDO:0005108 ! viral infectious disease
intersection_of: MONDO:0000001 ! disease
intersection_of: MONDO:0100332 NCBITaxon:142786 ! disease has primary infectious agent Norovirus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100075
name: jaw fracture
def: "A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken." []
subset: otar {source="MONDO:OTAR"}
synonym: "lower jaw fracture" NARROW []
synonym: "upper jaw fracture" NARROW []
xref: EFO:0009612 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MESH:D007572 {source="MONDO:equivalentTo"}
is_a: MONDO:0005315 {source="https://orcid.org/0000-0002-1382-4768"} ! bone fracture
property_value: http://purl.org/dc/elements/1.1/date "2019-02-06T06:57:26Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100076
name: juvenile idiopathic scoliosis
def: "A scoliosis with no known cause arising in a juvenile." []
xref: MEDGEN:1843471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:459696 {source="MONDO:equivalentObsolete"}
xref: UMLS:C3495538 {source="MEDGEN:1843471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000726 {source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic scoliosis
intersection_of: MONDO:0000726 ! idiopathic scoliosis
intersection_of: has_characteristic HP:0003621 ! Juvenile onset
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100077
name: congenital alveolar dysplasia
def: "A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis." [PMID:18874463]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAD" EXACT ABBREVIATION [https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:20539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0035220 {source="MONDO:equivalentTo", source="MEDGEN:20539", source="MONDO:MEDGEN"}
is_a: MONDO:0020295 {source="https://orcid.org/0000-0003-0113-912X"} ! congenital pulmonary veins anomaly
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3190" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0100078
name: resistant hypertension
def: "A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatment with 3 or more antihypertensive drugs including diuretics are ineffective." [https://orcid.org/0000-0002-6195-6976, PMID:26935512]
synonym: "drug resistant hypertension" EXACT []
xref: MEDGEN:1663781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0745130 {source="MEDGEN:1663781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005044 ! hypertensive disorder

[Term]
id: MONDO:0100079
name: developmental and epileptic encephalopathy, 6
def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene." [OMIM:607208]
comment: EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEE6" EXACT ABBREVIATION [OMIM:607208]
synonym: "developmental and epileptic encephalopathy, 6" EXACT CLINGEN_LABEL []
synonym: "Dravet syndrome" RELATED [OMIM:607208, OMIM:genemap2]
synonym: "EIEE6" EXACT ABBREVIATION [OMIM:607208]
synonym: "epileptic encephalopathy, early infantile, 6" EXACT [OMIM:607208]
xref: OMIM:607208 {source="MONDO:equivalentTo"}
is_a: MONDO:0100062 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental and epileptic encephalopathy
relationship: disease_shares_features_of MONDO:0100135 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Dravet syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100080
name: cardioectodermal syndrome
def: "Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation." [PMID:27933191]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: obsoletion_candidate
synonym: "cardio-ectodermal syndrome" EXACT [https://orcid.org/0000-0002-6733-369X]
is_a: MONDO:0002254 ! syndromic disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100081
name: sleep disorder
def: "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep." [NCIT:C3376]
subset: otar {source="MONDO:OTAR"}
synonym: "disturbances, sleep" EXACT [NCIT:C3376]
synonym: "parasomnia" RELATED [NCIT:C3376]
synonym: "sleep disturbance" EXACT [NCIT:C3376]
synonym: "sleep disturbances" EXACT [NCIT:C3376]
xref: EFO:0008568 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F50-F59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G40-G47 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:208862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3376 {source="MONDO:equivalentTo"}
xref: UMLS:C0851578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208862"}
is_a: MONDO:0005071 ! nervous system disorder
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_disrupts GO:0030431 ! sleep
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100082
name: LEOPARD syndrome 1
def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24." [OMIM:151100, PMID:12058348]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "lentiginosis, cardiomyopathic" EXACT [OMIM:151100]
synonym: "LEOPARD syndrome 1" EXACT CLINGEN_LABEL []
synonym: "LEOPARD syndrome type 1" EXACT [MONDORULE:1, OMIM:151100]
synonym: "LPRD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:151100]
synonym: "multiple lentigines syndrome" EXACT [OMIM:151100]
xref: DOID:0080548 {source="MONDO:equivalentTo"}
xref: MEDGEN:1631694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:151100 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e"}
xref: UMLS:C4551484 {source="MEDGEN:1631694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007893 ! Noonan syndrome with multiple lentigines
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="MONDO:mim2gene_medgen"} ! PTPN11

[Term]
id: MONDO:0100083
name: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
def: "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL." [https://clinicalgenome.org/affiliation/50034/]
subset: gard_rare {source="GARD:15329", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1943"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "asprin-like platelet disorder" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/]
synonym: "Familial Platelet Disorder with Associated Myeloid Malignancy" EXACT [NORD:1943]
synonym: "familial platelet disorder with associated myeloid malignancy" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290]
synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" EXACT OMO:0003005 []
synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290]
synonym: "familial thrombocytopenia with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 []
synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/]
synonym: "FPD/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290]
synonym: "FPDMM" RELATED ABBREVIATION [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399]
synonym: "FPS/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290]
synonym: "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1" EXACT CLINGEN_LABEL []
synonym: "platelet disorder, aspirin-like" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399]
synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399]
synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 []
synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399]
xref: GARD:15329 {source="MONDO:GARD"}
xref: MEDGEN:321945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:2200662 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NORD:1943 {source="MONDO:NORD"}
xref: OMIM:601399 {source="Orphanet:71290/e", source="MONDO:equivalentTo", source="Orphanet:71290"}
xref: UMLS:C1832388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321945"}
is_a: MONDO:0011071 {source="Orphanet:71290", source="https://clinicalgenome.org/affiliation/50034/"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10471 {source="https://clinicalgenome.org/affiliation/50034/"} ! RUNX1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100084
name: alpha-actinopathy
def: "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance." [PMID:22825594]
comment: The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACTA1 disease" EXACT []
synonym: "actin myopathy" BROAD []
synonym: "actinopathy" BROAD []
synonym: "alpha actinopathy" EXACT []
synonym: "alpha-actinopathy" EXACT CLINGEN_LABEL []
is_a: MONDO:0016139 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! qualitative or quantitative protein defects in neuromuscular diseases
is_a: MONDO:0019952 {source="https://github.com/monarch-initiative/mondo/issues/900"} ! congenital myopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/129 ! ACTA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/900" xsd:anyURI

[Term]
id: MONDO:0100085
name: cancer of long bone of upper limb
def: "A cancer that involves the upper limb long bone." []
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cancer of fore limb long bone" EXACT []
synonym: "cancer of long bone of fore limb" EXACT []
synonym: "cancer of long bone of forelimb" EXACT []
synonym: "cancer of long bone of upper extremity" EXACT []
synonym: "cancer of upper extremity long bone" EXACT []
synonym: "long bones of upper limb cancer" EXACT []
synonym: "malignant neoplasm of upper limb long bone" EXACT []
synonym: "malignant upper limb long bone neoplasm" EXACT []
xref: MEDGEN:671616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0684596 {source="MEDGEN:671616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024311 ! cancer affecting bone of limb skeleton
intersection_of: MONDO:0004992 ! cancer
intersection_of: disease_has_location UBERON:0003607 ! forelimb long bone
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100086
name: perinatal disease
def: "A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth." [https://www.who.int/maternal_child_adolescent/topics/maternal/maternal_perinatal/en/, NCIT:C35095, Wikipedia:Perinatal_mortality]
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
synonym: "perinatal condition" EXACT []
synonym: "perinatal disorder" EXACT [NCIT:C35095]
xref: EFO:0010238 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:P00-P96 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:P19-P29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:P35-P39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:P50-P61 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:P70-P74 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:P76-P78 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:75717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0270075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75717"}
is_a: MONDO:0000001 {source="https://orcid.org/0000-0001-5208-3432"} ! disease
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100087
name: familial Alzheimer disease
def: "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." [GARD:0000632]
subset: otar {source="MONDO:OTAR"}
synonym: "Alzheimer disease, familial" EXACT [DOID:10652, MESH:C536597]
synonym: "FAD" EXACT ABBREVIATION [GARD:0000632]
synonym: "GARD:0000632" EXACT [MONDO:equivalentTo]
xref: MEDGEN:82914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0276496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82914"}
is_a: MONDO:0004975 {source="https://orcid.org/0000-0001-5208-3432"} ! Alzheimer disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100088
name: obsolete late-onset familial alzheimer disease
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3947" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007089

[Term]
id: MONDO:0100089
name: GATA1-Related X-Linked Cytopenia
def: "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia." [https://clinicalgenome.org/affiliation/40028/, https://orcid.org/0000-0001-6964-7302, PMID:18930124, PMID:20301538, PMID:28895773]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GATA1-Related Cytopenia" EXACT []
synonym: "GATA1-Related X-Linked Cytopenia" EXACT CLINGEN_LABEL []
xref: MEDGEN:335283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1845837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335283"}
is_a: MONDO:0005570 ! hematologic disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4170 ! GATA1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100090
name: congenital alveolar dysplasia due to FGF10
def: "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAD due to FGF10" EXACT [https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0100077 {source="https://orcid.org/0000-0003-0113-912X"} ! congenital alveolar dysplasia
intersection_of: MONDO:0100077 ! congenital alveolar dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3666 ! FGF10
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3190" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0100091
name: inherited pseudoxanthoma elasticum
def: "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician." [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
comment: Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues
subset: gard_rare {source="GARD:9643", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "inherited Gronblad Strandberg syndrome" EXACT [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
synonym: "inherited PXE" EXACT [https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum]
xref: GARD:9643 {source="MONDO:GARD"}
xref: MEDGEN:697574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1274225 {source="MEDGEN:697574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024308 {source="https://github.com/monarch-initiative/mondo/issues/1046", source="https://orcid.org/0000-0002-6601-2165"} ! pseudoxanthoma elasticum (inherited or acquired)
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/57 {source="MONDO:mim2gene_medgen"} ! ABCC6
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum" xsd:anyURI {source="GARD:0009643"}

[Term]
id: MONDO:0100092
name: myoclonus, familial, 2
def: "Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13." [OMIM:618364]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MYOCL2" EXACT ABBREVIATION [OMIM:618364]
xref: MEDGEN:1683864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618364 {source="MONDO:equivalentTo"}
xref: UMLS:C5193056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683864"}
is_a: MONDO:0013981 {source="https://orcid.org/0000-0001-5208-3432"} ! myoclonus, familial
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 ! SCN8A
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100093
name: myoclonus, familial, 1
def: "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22." []
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FCM" EXACT ABBREVIATION [OMIM:614937]
synonym: "MYOCL1" EXACT ABBREVIATION [OMIM:614937]
synonym: "myoclonus, familial cortical" BROAD [OMIM:614937]
xref: MEDGEN:761667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614937 {source="MONDO:equivalentTo"}
xref: UMLS:C3539916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761667"}
is_a: MONDO:0013981 {source="https://orcid.org/0000-0001-5208-3432"} ! myoclonus, familial
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7869 {source="MONDO:mim2gene_medgen"} ! NOL3
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7869 {source="MONDO:mim2gene_medgen"} ! NOL3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100094
name: cannabinoid hyperemesis syndrome
def: "A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment." [PMID:28000146, Wikipedia:Cannabinoid_hyperemesis_syndrome]
synonym: "CHS" EXACT ABBREVIATION [PMID:28000146]
xref: MEDGEN:1829968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5243764 {source="MONDO:equivalentTo", source="MEDGEN:1829968", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 ! syndromic disease
relationship: disease_has_major_feature HP:0002017 ! Nausea and vomiting
relationship: disease_has_major_feature HP:0002027 ! Abdominal pain
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100095
name: neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
def: "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." [https://orcid.org/0000-0002-4650-631X, PMID:3010008, PMID:30401461]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CONDSIAS" EXACT ABBREVIATION [OMIM:618170]
synonym: "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" EXACT [OMIM:618170]
xref: DOID:0070352 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618170 {source="MONDO:equivalentTo"}
xref: UMLS:C4748527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648391"}
is_a: MONDO:0003847 {source="OMIM:618170"} ! hereditary disease
is_a: MONDO:0024237 ! inherited neurodegenerative disorder
relationship: has_characteristic HP:0000007 {source="PMID:30401461"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21304 ! ADPRS
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100096
name: COVID-19
def: "A disease caused by infection with severe acute respiratory syndrome coronavirus 2." [https://www.cdc.gov/coronavirus/2019-ncov/downloads/2019-ncov-factsheet.pdf, MONDO:patterns/infectious_disease_by_agent]
subset: otar {source="MONDO:OTAR"}
synonym: "2019 novel coronavirus" RELATED [https://orcid.org/0000-0002-2825-0621, https://www.cdc.gov/coronavirus/2019-ncov/index.html]
synonym: "2019 novel coronavirus infection" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html]
synonym: "2019-nCoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "2019-nCoV infection" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/index.html]
synonym: "beta-CoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "beta-CoVs" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "betacoronavirus" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "coronavirus disease 2019" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html]
synonym: "SARS-coronavirus 2" RELATED [doi:10.1038/s41564-020-0695-z, https://orcid.org/0000-0002-2825-0621]
synonym: "SARS-CoV-2" RELATED [doi:10.1038/s41564-020-0695-z]
synonym: "severe acute respiratory syndrome coronavirus 2" RELATED [doi:10.1038/s41564-020-0695-z]
synonym: "severe acute respiratory syndrome coronavirus 2 infectious disease" EXACT [MONDO:patterns/infectious_disease_by_agent]
synonym: "β-coronavirus" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "β-CoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
synonym: "β-CoVs" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621]
xref: DOID:0080600 {source="MONDO:equivalentTo"}
xref: ICD10CM:U07.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:1699653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000657245 {source="MONDO:equivalentObsolete"}
xref: MESH:D000086382 {source="MONDO:equivalentTo"}
xref: SCTID:840539006 {source="MONDO:equivalentTo"}
xref: UMLS:C5203670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1699653"}
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:2697049 ! disease has primary infectious agent Severe acute respiratory syndrome coronavirus 2
relationship: disease_has_feature HP:0000458 {source="PMID:32215896", source="PMID:32237238", source="PMID:32240279", source="doi:10.1101/2020.03.25.009084", source="https://github.com/monarch-initiative/mondo/issues/1373"} ! Anosmia
relationship: disease_has_feature HP:0041051 {source="PMID:32237238", source="https://github.com/monarch-initiative/mondo/issues/1373"} ! Ageusia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100097
name: congenital alveolar dysplasia due to TBX4
def: "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CAD due to TBX4" EXACT [https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0100077 {source="https://orcid.org/0000-0003-0113-912X"} ! congenital alveolar dysplasia
intersection_of: MONDO:0100077 ! congenital alveolar dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11603 ! TBX4
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3190" xsd:anyURI

[Term]
id: MONDO:0100098
name: dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
def: "A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia." [OMIM:233910]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: OMIM:233910 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0016812 {source="OMIM:233910", source="https://orcid.org/0000-0001-5493-2602"} ! dopa-responsive dystonia
is_a: MONDO:0100184 {source="OMIM:233910"} ! GTP cyclohydrolase I deficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4193 {source="OMIM:233910"} ! GCH1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5433" xsd:anyURI

[Term]
id: MONDO:0100099
name: retrograde cricopharyngeus dysfunction
def: "A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD." [PMID:31236539]
synonym: "R-CPD" EXACT ABBREVIATION [PMID:31236539]
is_a: MONDO:0002254 {source="PMID:31236539"} ! syndromic disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3712" xsd:anyURI

[Term]
id: MONDO:0100100
name: SELENON-related myopathy
def: "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present." [PMID:12192640]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SELENON-related myopathy" EXACT CLINGEN_LABEL []
synonym: "SEPN1-related myopathy" EXACT [PMID:12192640]
is_a: MONDO:0019952 ! congenital myopathy
intersection_of: MONDO:0019952 ! congenital myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15999 ! SELENON
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100101
name: fetal akinesia deformation sequence 1
def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene." [OMIM:208150]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:994"}
subset: orphanet_rare {source="Orphanet:994"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FADS1" EXACT ABBREVIATION [OMIM:208150]
synonym: "Pena-Shokeir syndrome type 1" EXACT [Orphanet:994]
synonym: "Pena-Shokeir syndrome, type 1" EXACT [OMIM:208150]
xref: DOID:0111377 {source="MONDO:equivalentTo"}
xref: MEDGEN:220903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:208150 {source="Orphanet:994", source="MONDO:equivalentTo", source="Orphanet:994/e"}
xref: Orphanet:994 {source="MONDO:equivalentTo", source="OMIM:208150"}
xref: UMLS:C1276035 {source="MEDGEN:220903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence
intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7525 ! MUSK
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100102
name: fetal akinesia deformation sequence 2
def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene." [OMIM:618388]
subset: gard_rare {source="GARD:16495", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FADS2" EXACT ABBREVIATION [OMIM:618388]
xref: DOID:0111378 {source="MONDO:equivalentTo"}
xref: GARD:16495 {source="MONDO:GARD"}
xref: MEDGEN:1678048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618388 {source="MONDO:equivalentTo"}
xref: UMLS:C4760576 {source="MEDGEN:1678048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence
intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9863 ! RAPSN
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100103
name: fetal akinesia deformation sequence 3
def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene." [OMIM:618389]
subset: gard_rare {source="GARD:16496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FADS3" EXACT ABBREVIATION [OMIM:618389]
xref: DOID:0111376 {source="MONDO:equivalentTo"}
xref: GARD:16496 {source="MONDO:GARD"}
xref: MEDGEN:1680087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618389 {source="MONDO:equivalentTo"}
xref: UMLS:C4760599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680087"}
is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence
intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26594 ! DOK7
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100104
name: fetal akinesia deformation sequence 4
def: "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene." [OMIM:618393]
subset: gard_rare {source="GARD:16497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FADS4" EXACT ABBREVIATION [OMIM:618393]
xref: DOID:0111379 {source="MONDO:equivalentTo"}
xref: GARD:16497 {source="MONDO:GARD"}
xref: MEDGEN:1675450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618393 {source="MONDO:equivalentTo"}
xref: UMLS:C4760578 {source="MEDGEN:1675450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence
intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8067 ! NUP88

[Term]
id: MONDO:0100105
name: brain small vessel disease 3
def: "An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration." [OMIM:618360]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BSVD3" EXACT ABBREVIATION [OMIM:618360]
xref: DOID:0112315 {source="MONDO:equivalentTo"}
xref: MEDGEN:1677948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618360 {source="MONDO:equivalentTo"}
xref: UMLS:C5193053 {source="MEDGEN:1677948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020496 ! familial porencephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26182 ! COLGALT1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100106
name: obsolete neonatal epileptic encephalopathy
def: "OBSOLETE. A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death." [https://clinicalgenome.org/affiliation/40005/]
comment: Reason: out of scope. Recommended for obsoletion by the ClinGen Epilepsy GCEP. Term to consdier: MONDO:0100455 Neonatal-onset developmental and epileptic encephalopathy.
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4057" xsd:anyURI
is_obsolete: true
consider: MONDO:0100455

[Term]
id: MONDO:0100107
name: non-neonatal early infantile epileptic encephalopathy
def: "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death." [https://clinicalgenome.org/affiliation/40005/]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0100062 {source="https://clinicalgenome.org/affiliation/40005/"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100108
name: TPM3-related myopathy
def: "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." [https://clinicalgenome.org/affiliation/40031/, PMID:24692096]
comment: The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant TPM3-related myopathy" NARROW [PMID:24692096]
synonym: "congenital myopathy related to TPM3" EXACT [PMID:24692096]
synonym: "TPM3 myopathy" EXACT [PMID:24692096]
synonym: "TPM3-related myopathy" EXACT CLINGEN_LABEL []
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017303 {source="https://clinicalgenome.org/affiliation/40031/"} ! qualitative or quantitative defects of tropomyosin
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
intersection_of: MONDO:0019952 ! congenital myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12012 ! TPM3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100109
name: Zinner syndrome
def: "A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction." [PMID:30258511]
is_a: MONDO:0002254 {source="PMID:30258511"} ! syndromic disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100110
name: adenovirus renal infection
is_a: MONDO:0005240 ! kidney disorder
intersection_of: MONDO:0043479 ! adenoviridae infectious disease
intersection_of: disease_has_location UBERON:0002113 ! kidney
relationship: disease_has_major_feature HP:0031694 ! Severe adenovirus infection
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100111
name: focal segmental glomerulosclerosis and neurodevelopmental syndrome
def: "A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed." [OMIM:619428]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "FSGSNEDS" EXACT ABBREVIATION [OMIM:619428]
xref: MEDGEN:1794148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619428 {source="MONDO:equivalentTo"}
xref: UMLS:C5561938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794148"}
is_a: MONDO:0003847 {source="OMIM:619428"} ! hereditary disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3530" xsd:anyURI

[Term]
id: MONDO:0100112
name: acyl-CoA binding domain containing protein 5 deficiency
def: "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay." [https://clinicalgenome.org/affiliation/40049/, PMID:27799409, PMID:27899449]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ACBD5 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "acyl-CoA binding domain containing protein 5 deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis
is_a: MONDO:0019233 {source="https://clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal beta oxidation
is_a: MONDO:0100372 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal transporter
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23338 {source="https://orcid.org/0000-0001-5208-3432"} ! ACBD5
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100113
name: hearing loss with skin disease
def: "Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes." [https://clinicalgenome.org/affiliation/50007/, PMID:16059934, PMID:20583176, PMID:24945352, PMID:9856479]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: -
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
is_a: MONDO:0017666 {source="MONDO:0017669-obsoleted"} ! diffuse palmoplantar keratoderma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 ! GJB2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI
property_value: IAO:0006012 "2024-09-01" xsd:string

[Term]
id: MONDO:0100114
name: dry age related macular degeneration
def: "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy." [PMID:26319344]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dry AMD" EXACT [MedDRA:10075567, PMID:26319344]
synonym: "dry ARMD" EXACT [MedDRA:10075567, PMID:26319344]
xref: MedDRA:10075567
xref: MEDGEN:543161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0271083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543161"}
is_a: MONDO:0005150 ! age-related macular degeneration
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100115
name: acute flaccid myelitis
def: "An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause." [NCIT:C128379]
subset: gard_rare {source="GARD:13142", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:623801"}
subset: orphanet_rare {source="Orphanet:623801"}
subset: rare
synonym: "AFM" EXACT ABBREVIATION [https://www.cdc.gov/acute-flaccid-myelitis/index.html]
xref: DOID:0080947 {source="MONDO:equivalentTo"}
xref: GARD:13142 {source="MONDO:GARD"}
xref: MEDGEN:927532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000629404 {source="MONDO:equivalentTo"}
xref: NCIT:C128379 {source="MONDO:equivalentTo"}
xref: Orphanet:623801 {source="MONDO:equivalentTo"}
xref: UMLS:C4290000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927532"}
is_a: MONDO:0002565 {source="https://orcid.org/0000-0001-5208-3432"} ! myelitis
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0100116
name: Middle East respiratory syndrome
def: "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome." [NCIT:C128424]
subset: gard_rare {source="GARD:22321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:576074"}
subset: orphanet_rare {source="Orphanet:576074"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "camel flu" EXACT [Wikipedia:Middle_East_respiratory_syndrome]
synonym: "MERS" EXACT ABBREVIATION [NCIT:C128424]
xref: DOID:0080642 {source="MONDO:equivalentTo"}
xref: GARD:22321 {source="MONDO:GARD"}
xref: icd11.foundation:1840423014 {source="MONDO:equivalentTo", source="Orphanet:576074"}
xref: MEDGEN:811327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C128424 {source="MONDO:equivalentTo"}
xref: Orphanet:576074 {source="MONDO:equivalentTo"}
xref: UMLS:C3694279 {source="MEDGEN:811327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="Orphanet:576074"} ! respiratory system disorder
is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:1335626 ! disease has primary infectious agent Middle East respiratory syndrome-related coronavirus
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100117
name: obsolete familial sudden death
def: "OBSOLETE. An instance of sudden cardiac death that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
synonym: "familial sudden death syndrome" EXACT [OMIM:115080]
xref: OMIM:115080 {source="MONDO:includedEntryInOMIM"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2419" xsd:anyURI
is_obsolete: true
consider: HP:0001645

[Term]
id: MONDO:0100118
name: hereditary skin disorder
def: "An instance of skin disease that is caused by a modification of the individual's genome." [MONDO:patterns/genetic]
subset: otar {source="MONDO:OTAR"}
synonym: "disease, genetic skin" EXACT [MESH:D012873]
synonym: "diseases, genetic skin" EXACT [MESH:D012873]
synonym: "genetic skin disease" EXACT [MESH:D012873, MONDO:patterns/genetic]
synonym: "genetic skin diseases" EXACT [MESH:D012873]
synonym: "genodermatosis" EXACT []
synonym: "skin disease, genetic" EXACT [MESH:D012873]
xref: MESH:D012873 {source="MONDO:equivalentTo"}
xref: SCTID:239001006 {source="MONDO:equivalentTo"}
is_a: MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder
intersection_of: MONDO:0005093 ! skin disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5682" xsd:anyURI

[Term]
id: MONDO:0100119
name: Knobloch syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:1812153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618458 {source="MONDO:equivalentTo"}
xref: UMLS:C5676897 {source="MEDGEN:1812153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800166 {source="OMIM:618458"} ! Knobloch syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100120
name: vector-borne disease
def: "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector." [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)]
subset: otar {source="MONDO:OTAR"}
synonym: "vector-borne infection" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)]
synonym: "vector-borne infectious disease" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, Wikipedia:Vector_(epidemiology)]
xref: MEDGEN:738484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000079426 {source="MONDO:equivalentTo"}
xref: UMLS:C1640363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:738484"}
is_a: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: transmitted_by NCBITaxon:131567 ! cellular organisms
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-2825-0621

[Term]
id: MONDO:0100121
name: SCN4A-related myopathy, autosomal recessive
def: "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy." [https://www.clinicalgenome.org/affiliation/40061/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital myopathy with \"corona\" fibers, selective muscle atrophy, and craniosynostosis" EXACT [https://www.clinicalgenome.org/affiliation/40061/]
synonym: "congenital myopathy with severe fetal hypokinesia" EXACT [https://www.clinicalgenome.org/affiliation/40061/]
synonym: "congenital myopathy with severe foetal hypokinesia" EXACT OMO:0003005 []
synonym: "myopathy with ptosis and mild dystrophic pattern" EXACT [https://www.clinicalgenome.org/affiliation/40061/]
synonym: "SCN4A-related myopathy, autosomal recessive" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40061/]
is_a: MONDO:0019952 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! congenital myopathy
intersection_of: MONDO:0019952 ! congenital myopathy
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 ! SCN4A
relationship: disease_has_major_feature HP:0001558 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! Decreased fetal movement
relationship: disease_has_major_feature HP:0003202 ! Skeletal muscle atrophy
relationship: disease_has_major_feature MONDO:0015469 ! craniosynostosis
relationship: has_characteristic HP:0000007 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1453" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele" xsd:anyURI {source="GARD:0003475"}

[Term]
id: MONDO:0100122
name: GNPTAB-mucolipidosis
def: "An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β." [PMID:20301728, PMID:32651481]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GNPTAB-related disorder" EXACT [PMID:20301728, PMID:32651481]
synonym: "UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency" EXACT [https://orcid.org/0000-0002-5655-9589]
is_a: MONDO:0019248 {source="PMID:20301728", source="PMID:32651481", source="https://orcid.org/0000-0002-5655-9589"} ! mucolipidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29670 {source="https://orcid.org/0000-0002-5655-9589"} ! GNPTAB
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5565" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6020" xsd:anyURI

[Term]
id: MONDO:0100123
name: toxic bronchiolitis
def: "Bronchiolitis as a response to a toxic exposure." [https://orcid.org/0000-0002-0736-9199]
comment: This is different from bronchiolitis obliterans. Brochiolitis obliterans is diagnosed by a biopsy.
is_a: MONDO:0002465 {source="https://orcid.org/0000-0002-0736-9199"} ! bronchiolitis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5259" xsd:anyURI

[Term]
id: MONDO:0100124
name: NAA10-related syndrome
def: "Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies." [https://clinicalgenome.org/affiliation/40006/, PMID:23871722, PMID:24431331, PMID:25099252, PMID:26522270, PMID:27094817, PMID:28967461, PMID:29558889, PMID:29748569, PMID:31088393, PMID:31127942, PMID:31174490]
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NAA10 X-linked syndromic intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "NAA10-related syndrome" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40006/]
synonym: "X-linked syndromic intellectual disability caused by mutation in NAA10" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18704 ! NAA10
relationship: disease_has_feature HP:0000924 {source="https://clinicalgenome.org/affiliation/40006/"} ! Abnormality of the skeletal system
relationship: disease_has_feature HP:0001249 {source="https://clinicalgenome.org/affiliation/40006/"} ! Intellectual disability
relationship: disease_has_feature HP:0001252 {source="https://clinicalgenome.org/affiliation/40006/"} ! Hypotonia
relationship: disease_has_feature HP:0001626 {source="https://clinicalgenome.org/affiliation/40006/"} ! Abnormality of the cardiovascular system
relationship: disease_has_feature HP:0001999 {source="https://clinicalgenome.org/affiliation/40006/"} ! Abnormal facial shape
relationship: disease_has_feature HP:0012758 {source="https://clinicalgenome.org/affiliation/40006/"} ! Neurodevelopmental delay
relationship: disease_has_feature MONDO:0005258 {source="https://clinicalgenome.org/affiliation/40006/"} ! autism spectrum disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18704 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0100125
name: hallucinogen-persisting perception disorder
def: "A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses." [PMID:29547576]
synonym: "hallucinogen abuse with hallucinogen persisting perception disorder" NARROW [ICD10CM:F16.183]
xref: ICD10CM:F16.183 {source="MONDO:relatedTo"}
is_a: MONDO:0024417 {source="https://orcid.org/0000-0001-5208-3432"} ! perceptual disorders

[Term]
id: MONDO:0100126
name: P5CS deficiency
def: "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy." [PMID:32017139]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "delta1-pyrroline-5-carboxylate synthetase deficiency" EXACT [PMID:32017139]
synonym: "P5CS deficiency" EXACT CLINGEN_LABEL []
is_a: MONDO:0017355 {source="PMID:32017139"} ! inborn disorder of proline metabolism
is_a: MONDO:0017356 {source="PMID:32017139"} ! inborn disorder of ornithine metabolism
intersection_of: MONDO:0017355 ! inborn disorder of proline metabolism
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 ! ALDH18A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9722 {source="PMID:32017139"} ! ALDH18A1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100127
name: toxic bronchiolitis obliterans
def: "Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles." [https://orcid.org/0000-0002-0736-9199]
xref: MEDGEN:573502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:196027008 {source="MONDO:equivalentTo"}
xref: UMLS:C0340046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573502"}
is_a: MONDO:0100123 {source="https://orcid.org/0000-0002-0736-9199"} ! toxic bronchiolitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5259" xsd:anyURI

[Term]
id: MONDO:0100128
name: coinfection
def: "The simultaneous infection of a host by multiple pathogen species." [EFO:0010716, https://orcid.org/0000-0003-0800-544X, OMIT:0027719, Wikipedia:Coinfection]
xref: MEDGEN:452372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060085 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: UMLS:C0275524 {source="MEDGEN:452372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 ! infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100129
name: intracranial arachoid cyst
def: "A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid." [OMIM:207790]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "arachnoid cysts, intracranial" EXACT [GARD:0000017, OMIM:207790]
synonym: "intracranial arachnoid cysts" EXACT [GARD:0000017]
xref: MEDGEN:148353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:207790 {source="Orphanet:2356", source="GARD:0000017", source="MONDO:equivalentTo", source="Orphanet:2356/e"}
xref: UMLS:C0751615 {source="MEDGEN:148353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008813 ! arachnoid cyst
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100130
name: adult acute respiratory distress syndrome
def: "A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%." [Orphanet:70578]
subset: gard_rare {source="GARD:18902", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:70578"}
subset: orphanet_rare {source="Orphanet:70578"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adult acute respiratory distress syndrome" EXACT [MONDO:0019089]
synonym: "adult ARDS" EXACT [Orphanet:70578]
synonym: "adult RDS" EXACT [DOID:11394, NCIT:C3353]
synonym: "adult respiratory distress syndrome" EXACT [GARD:0005698, MONDO:0001278]
synonym: "adult respiratory distress syndrome, ARDS" EXACT [NCIT:C3353]
synonym: "ARDS" RELATED ABBREVIATION [https://orcid.org/0000-0002-2825-0621]
synonym: "respiratory distress syndrome, adult" EXACT [GARD:0005698]
xref: DOID:11394 {source="MONDO:equivalentTo"}
xref: GARD:18902 {source="MONDO:GARD"}
xref: MEDGEN:20540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D012128 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"}
xref: Orphanet:70578 {source="MONDO:equivalentTo"}
xref: SCTID:67782005 {source="MONDO:equivalentTo", source="DOID:11394"}
xref: UMLS:C0035222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20540"}
is_a: MONDO:0006502 {source="https://orcid.org/0000-0001-5208-3432"} ! acute respiratory distress syndrome
intersection_of: MONDO:0006502 ! acute respiratory distress syndrome
intersection_of: has_characteristic HP:0003581 ! Adult onset
relationship: has_characteristic PATO:0000389 ! acute
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100131
name: pediatric acute respiratory distress syndrome
def: "Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded." [PMID:25647235, PMID:31236307]
subset: otar {source="MONDO:OTAR"}
synonym: "PARDS" EXACT ABBREVIATION [PMID:25647235, PMID:31236307]
is_a: MONDO:0006502 {source="https://orcid.org/0000-0001-5208-3432"} ! acute respiratory distress syndrome
intersection_of: MONDO:0006502 ! acute respiratory distress syndrome
intersection_of: has_characteristic HP:0410280 ! Pediatric onset
relationship: has_characteristic PATO:0000389 ! acute
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100132
name: intrahepatic bile duct adenosquamous carcinoma
def: "An adenosquamous carcinoma that arises from the intrahepatic bile ducts." [doi:10.1007/BF01222246, https://ci.nii.ac.jp/naid/10015744710/, MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0003549 {source="https://github.com/monarch-initiative/mondo/issues/1275"} ! adenosquamous bile duct carcinoma
intersection_of: MONDO:0006074 ! adenosquamous carcinoma
intersection_of: disease_has_location UBERON:0003704 ! intrahepatic bile duct
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100133
name: mitochondrial complex I deficiency
def: "A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene." [GARD:0003908]
subset: gard_rare {source="GARD:3908", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2609"}
subset: orphanet_rare {source="Orphanet:2609"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complex 1 mitochondrial respiratory chain deficiency" EXACT [GARD:0003908]
synonym: "isolated complex I deficiency" EXACT [GARD:0003908]
synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT [DOID:0060536, Orphanet:2609]
synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT [DOID:0060536, Orphanet:2609]
synonym: "isolated NADH-CoQ reductase deficiency" EXACT [DOID:0060536, Orphanet:2609]
synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT [DOID:0060536, Orphanet:2609]
synonym: "NADH coenzyme Q reductase deficiency" EXACT [GARD:0003908]
xref: DOID:0060536 {source="MONDO:equivalentTo"}
xref: GARD:3908 {source="MONDO:GARD"}
xref: MEDGEN:374101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537475 {source="MONDO:equivalentTo"}
xref: NANDO:1200180 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:2609 {source="MONDO:equivalentTo"}
xref: UMLS:C1838979 {source="MEDGEN:374101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 ! mitochondrial complex deficiency
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005747 ! obsolete mitochondrial respiratory chain complex I
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency" xsd:anyURI {xref="GARD:0003908"}

[Term]
id: MONDO:0100134
name: mitochondrial complex I deficiency, mitochondrial type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0100133 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex I deficiency
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100135
name: Dravet syndrome
def: "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-7090-9648, https://orcid.org/0000-0002-6601-2165]
comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10430", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1061", source="MONDO:NORD"}
subset: rare
synonym: "Dravet syndrome" EXACT CLINGEN_LABEL [OMIM:607208]
synonym: "DS" EXACT ABBREVIATION [Orphanet:33069]
synonym: "myoclonic epilepsy, severe, of infancy" RELATED [GARD:0010430]
synonym: "SME" RELATED ABBREVIATION [GARD:0010430]
xref: DOID:0060171 {source="MONDO:equivalentObsolete"}
xref: DOID:0080422 {source="MONDO:equivalentTo"}
xref: GARD:10430 {source="MONDO:GARD"}
xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:148243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NANDO:1200587 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200877 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C116573 {source="MONDO:equivalentTo"}
xref: NORD:1061 {source="MONDO:NORD"}
xref: SCTID:230437002 {source="MONDO:equivalentTo"}
xref: UMLS:C0751122 {source="MEDGEN:148243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="https://github.com/monarch-initiative/mondo/issues/745", source="https://orcid.org/0000-0002-6647-5493"} ! developmental and epileptic encephalopathy
relationship: disease_has_feature HP:0002373 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Febrile seizure (within the age range of 3 months to 6 years)
relationship: disease_shares_features_of MONDO:0100079 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! developmental and epileptic encephalopathy, 6
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! SCN1A
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome" xsd:anyURI {source="GARD:0010430"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/dravet-overview.html" xsd:anyURI

[Term]
id: MONDO:0100136
name: obsolete Fanconia anemia complementation group M
def: "OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene." [MONDO:patterns/disease_series_by_gene]
synonym: "FANCM Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "Fanconi anemia caused by mutation in FANCM" EXACT [MONDO:design_pattern]
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1636" xsd:anyURI
is_obsolete: true
consider: MONDO:0019391

[Term]
id: MONDO:0100137
name: telomere syndrome
def: "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths." [PMID:29804726]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "short telomere syndrome" EXACT [PMID:29804726]
synonym: "STS" EXACT ABBREVIATION [PMID:29804726]
xref: MEDGEN:1668986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C152065 {source="MONDO:equivalentTo"}
xref: UMLS:C4727832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1668986"}
is_a: MONDO:0019303 {source="https://github.com/monarch-initiative/mondo/issues/1631"} ! premature aging syndrome
relationship: disease_has_location GO:0000781 {source="https://github.com/monarch-initiative/mondo/pull/1647", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! chromosome, telomeric region

[Term]
id: MONDO:0100138
name: X-linked recessive mitochondrial myopathy
def: "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features." [PMID:32439808]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features" EXACT [PMID:32439808]
is_a: MONDO:0009637 {source="PMID:32439808", source="https://github.com/monarch-initiative/mondo/issues/1585"} ! inborn mitochondrial myopathy
is_a: MONDO:0019056 {source="PMID:32439808", source="https://github.com/monarch-initiative/mondo/issues/1585"} ! neuromuscular disease
is_a: MONDO:0020605 {source="PMID:32439808", source="https://github.com/monarch-initiative/mondo/issues/1585"} ! X-linked recessive disease
is_a: MONDO:0044970 {source="PMID:32439808", source="https://github.com/monarch-initiative/mondo/issues/1585"} ! mitochondrial disease
intersection_of: MONDO:0009637 ! inborn mitochondrial myopathy
intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28727 ! APOO

[Term]
id: MONDO:0100139
name: obsolete asymptomatic COVID-19 infection
def: "OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease." [https://twitter.com/EricTopol/status/1269359663591510016, https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2896" xsd:anyURI
is_obsolete: true
consider: MONDO:0100096

[Term]
id: MONDO:0100140
name: obsolete mild COVID-19 infection
def: "OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
xref: DOID:0081014 {source="MONDO:obsoleteEquivalent"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2896" xsd:anyURI
is_obsolete: true
consider: MONDO:0100096

[Term]
id: MONDO:0100141
name: obsolete moderate COVID-19 infection
def: "OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2896" xsd:anyURI
is_obsolete: true
consider: MONDO:0100096

[Term]
id: MONDO:0100142
name: obsolete severe COVID-19 infection
def: "OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
xref: DOID:0081013 {source="MONDO:obsoleteEquivalent"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2896" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0100143
name: obsolete critical COVID-19 infection
def: "OBSOLETE. A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction." [https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
xref: DOID:0081012 {source="MONDO:obsoleteEquivalent"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2896" xsd:anyURI
is_obsolete: true
consider: MONDO:0100096

[Term]
id: MONDO:0100144
name: Uner Tan Syndrome
def: "A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations." [https://orcid.org/0000-0001-6330-7526, PMID:28013290]
synonym: "recessive quadrupedalism" EXACT [PMID:28013290]
is_a: MONDO:0006025 {source="PMID:21258577"} ! autosomal recessive disease
is_a: MONDO:0100153 {source="https://orcid.org/0000-0002-4142-7153"} ! tubulinopathy
relationship: disease_causes_dysfunction_of http://identifiers.org/hgnc/30829 {source="PMID:28013290"} ! TUBB2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1571" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0100145
name: obsolete presymptomatic COVID-19 infection
def: "OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on." [https://twitter.com/EricTopol/status/1269359663591510016, https://www.covid19treatmentguidelines.nih.gov/overview/management-of-covid-19/]
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2896" xsd:anyURI
is_obsolete: true
consider: MONDO:0100096

[Term]
id: MONDO:0100146
name: ATP6AP2-related disorder
def: "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes." [https://clinicalgenome.org/affiliation/40006/, PMID:15746149, PMID:23595882, PMID:26376863, PMID:26467484, PMID:29127204, PMID:30985297]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ATP6AP2-related disorder" EXACT CLINGEN_LABEL []
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18305 ! ATP6AP2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0100147
name: SATB2 associated disorder
def: "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." [https://clinicalgenome.org/affiliation/40006/, PMID:17377962, PMID:29436146, PMID:31021519]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:22326", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:576278"}
subset: orphanet_rare {source="Orphanet:576278"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SAS" EXACT ABBREVIATION [Orphanet:576278]
synonym: "SATB2 associated disorder" EXACT CLINGEN_LABEL []
synonym: "SATB2-associated syndrome" EXACT [Orphanet:576278]
xref: GARD:22326 {source="MONDO:GARD"}
xref: Orphanet:576278 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006/"} ! syndromic intellectual disability
intersection_of: MONDO:0000508 ! syndromic intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21637 ! SATB2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0100148
name: X-linked complex neurodevelopmental disorder
def: "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy." [https://clinicalgenome.org/affiliation/40006/, PMID:25644381, PMID:29267967]
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "X-linked complex neurodevelopmental disorder" EXACT CLINGEN_LABEL []
is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
intersection_of: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder
intersection_of: has_characteristic HP:0001417 {source="https://clinicalgenome.org/affiliation/40006/"} ! X-linked inheritance
relationship: disease_has_feature HP:0000729 {source="https://clinicalgenome.org/affiliation/40006/"} ! Autistic behavior
relationship: disease_has_feature HP:0001249 {source="https://clinicalgenome.org/affiliation/40006/"} ! Intellectual disability
relationship: disease_has_feature HP:0001250 {source="https://clinicalgenome.org/affiliation/40006/"} ! Seizure
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI

[Term]
id: MONDO:0100149
name: PNPLA6-related spastic paraplegia with or without ataxia
def: "An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism." [https://clinicalgenome.org/affiliation/40060/, https://orcid.org/0000-0001-5208-3432, PMID:35069422]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019064 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16268 {source="PMID:35069422", source="https://clinicalgenome.org/affiliation/40060/"} ! PNPLA6
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5527" xsd:anyURI

[Term]
id: MONDO:0100150
name: RYR1-related myopathy
def: "A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion." [https://clinicalgenome.org/affiliation/40031/, PMID:30406384]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RYR1-related myopathy" EXACT CLINGEN_LABEL []
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
intersection_of: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0100151
name: nephropathic cystinosis
def: "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction." [NCIT:C129932]
subset: gard_rare {source="GARD:10074", source="MONDO:GARD"}
subset: rare
synonym: "Abderhalden Kaufmann Lignac syndrome" EXACT [MESH:C535335]
synonym: "Abderhalden Lignac Kaufmann disease" EXACT [GARD:0010074]
synonym: "Abderhalden-Kaufmann-Lignac syndrome" EXACT [MONDO:0021725]
synonym: "Abderhalden-Lignac-Kaufmann disease" EXACT [MESH:C535335]
synonym: "CTNS" EXACT ABBREVIATION [OMIM:219800]
synonym: "cystinosis, atypical nephropathic" EXACT [OMIM:219800, OMIM:genemap2]
synonym: "cystinosis, nephropathic" EXACT [MONDO:Lexical, OMIM:219800]
xref: GARD:10074 {source="MONDO:GARD"}
xref: MEDGEN:419735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535335 {source="MONDO:equivalentTo"}
xref: NANDO:1200162 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2201234 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C129932 {source="MONDO:equivalentTo"}
xref: OMIM:219800 {source="MONDO:equivalentTo", source="Orphanet:411629"}
xref: UMLS:C2931187 {source="MEDGEN:419735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016239 {source="MESH:C535335", source="NCIT:C129932"} ! cystinosis
relationship: has_characteristic HP:0000007 {source="NCIT:C129932", source="OMIM:219800"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="OMIM:219800"} ! CTNS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100152
name: DKC1-related disorder
def: "Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene." [https://clinicalgenome.org/affiliation/40006/, MONDO:patterns/disease_series_by_gene, PMID:10583221, PMID:12437656, PMID:14648217, PMID:19633571]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DKC1-related disorder" EXACT CLINGEN_LABEL []
is_a: MONDO:0015780 {source="https://clinicalgenome.org/affiliation/40006/"} ! dyskeratosis congenita
intersection_of: MONDO:0015780 ! dyskeratosis congenita
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2890 ! DKC1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100153
name: tubulinopathy
def: "A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene." [DOID:0112227, https://clinicalgenome.org/affiliation/40006/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
xref: DOID:0112227 {source="MONDO:equivalentTo"}
is_a: MONDO:0005071 {source="DOID:0112227"} ! nervous system disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5506" xsd:anyURI

[Term]
id: MONDO:0100154
name: TUBB3-related tubulinopathy
def: "A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features." [https://clinicalgenome.org/affiliation/40006/]
is_a: MONDO:0100153 {source="https://clinicalgenome.org/affiliation/40006/"} ! tubulinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 {source="https://clinicalgenome.org/affiliation/40006/"} ! TUBB3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5506" xsd:anyURI

[Term]
id: MONDO:0100155
name: retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
def: "An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes." [https://clinicalgenome.org/affiliation/40060/, PMID:35069422]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "RAPH syndrome" EXACT [PMID:35069422]
is_a: MONDO:0002254 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5562" xsd:anyURI

[Term]
id: MONDO:0100156
name: Imerslund-Grasbeck syndrome type 1
def: "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." [OMIM:261100]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "enterocyte cobalamin malabsorption" EXACT [OMIM:261100]
synonym: "enterocyte intrinsic factor receptor, defect of" EXACT [OMIM:261100]
synonym: "Imerslund-Grasbeck syndrome 1" EXACT [OMIM:261100, OMIM:genemap2]
synonym: "Imerslund-Grasbeck syndrome type 1" EXACT CLINGEN_LABEL []
synonym: "megaloblastic Anaemia type 1" EXACT OMO:0003005 []
synonym: "megaloblastic Anemia type 1" EXACT [MONDORULE:1, OMIM:261100]
synonym: "megaloblastic anemia, 1" EXACT [OMIM:261100]
synonym: "megaloblastic anemia, Finnish type" EXACT [OMIM:261100]
synonym: "MGA-1" EXACT [NCIT:C131677]
synonym: "MGA1" EXACT ABBREVIATION [OMIM:261100]
synonym: "Mga1" EXACT [OMIM:261100]
synonym: "pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria" EXACT [OMIM:261100]
xref: MEDGEN:865256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131677 {source="MONDO:equivalentTo"}
xref: OMIM:261100 {source="MONDO:equivalentTo"}
xref: UMLS:C4016819 {source="MEDGEN:865256", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009853 {source="OMIM:261100"} ! Imerslund-Grasbeck syndrome
intersection_of: MONDO:0009853 {source="OMIM:261100"} ! Imerslund-Grasbeck syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2548 {source="OMIM:261100"} ! CUBN
relationship: has_characteristic HP:0000007 {source="OMIM:261100"} ! Autosomal recessive inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100157
name: Imerslund-Grasbeck syndrome type 2
def: "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)." [OMIM:618882]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Imerslund-Grasbeck syndrome 2" EXACT [OMIM:618882, OMIM:genemap2]
synonym: "megaloblastic anemia, Norwegian type" EXACT [OMIM:618882]
xref: MEDGEN:865385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618882 {source="MONDO:equivalentTo"}
xref: UMLS:C4016948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:865385"}
is_a: MONDO:0009853 {source="OMIM:618882"} ! Imerslund-Grasbeck syndrome
intersection_of: MONDO:0009853 {source="OMIM:618882"} ! Imerslund-Grasbeck syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14604 {source="OMIM:618882"} ! AMN
relationship: has_characteristic HP:0000007 {source="OMIM:618882"} ! Autosomal recessive inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100158
name: CHRNG-associated hypo-akinesia disorder of prenatal onset
def: "A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases." [https://www.clinicalgenome.org/affiliation/40106/, PMID:16826520, PMID:16826531, PMID:22167768, PMID:30868735]
comment: This term encompasses both autosomal recessive multiple pterygium syndrome and lethal multiple pterygium syndrome but is not the only possible cause of either of these presentations.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0017415 {source="PMID:16826520", source="PMID:16826531", source="PMID:22167768", source="PMID:30868735", source="https://www.clinicalgenome.org/affiliation/40106/"} ! multiple pterygium syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5563" xsd:anyURI

[Term]
id: MONDO:0100159
name: pulmonary hypertension, neonatal
def: "Abnormally high blood pressure in a newborn child." [NCIT:C4732]
synonym: "persistent pulmonary hypertension in the newborn" EXACT []
xref: NCIT:C4732 {source="MONDO:equivalentTo"}
is_a: MONDO:0005149 {source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary hypertension
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5530" xsd:anyURI

[Term]
id: MONDO:0100160
name: alcoholic ketoacidosis
def: "An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occurring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae." [PMID:16714496]
comment: In this disease, you have episodes of acidosis following long bouts of drinking and the ketone bodies seem to be the predominant but not sole type. {source="https://github.com/monarch-initiative/mondo/issues/1823"}
synonym: "alcoholic acidosis" EXACT [PMID:16714496]
synonym: "alcoholic ketosis" EXACT [PMID:16714496]
xref: DOID:0080949 {source="MONDO:equivalentTo"}
xref: MEDGEN:541151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0268039 {source="MEDGEN:541151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006022 {source="PMID:16714496"} ! acidosis disorder

[Term]
id: MONDO:0100161
name: hyperkalemic renal tubular acidosis
def: "Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels." [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
subset: inferred_rare
subset: rare
synonym: "hyperkalemic RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "renal tubular acidosis type 4" EXACT [Orphanet:89939]
synonym: "type 4 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
synonym: "type 4 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis]
xref: MEDGEN:87662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:89939 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0376185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87662"}
is_a: MONDO:0001909 {source="https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis"} ! renal tubular acidosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100162
name: IKBKG-related immunodeficiency with or without ectodermal dysplasia
def: "Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID)." [https://orcid.org/0000-0002-7437-8060, PMID:11047757, PMID:35163099]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "NEMO related ID/EDA-ID" EXACT [https://orcid.org/0000-0002-7437-8060]
is_a: MONDO:0021094 {source="PMID:11047757", source="PMID:35163099", source="https://orcid.org/0000-0002-7437-8060"} ! immunodeficiency disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 {source="PMID:11047757", source="PMID:35163099"} ! IKBKG
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5520" xsd:anyURI

[Term]
id: MONDO:0100163
name: COVID-19–associated multisystem inflammatory syndrome in children
def: "A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms." [PMID:32511692, PMID:32529358, PMID:32630212]
comment: The clinical presentation of MIS-C includes fever, severe illness, and the involvement of two or more organ systems, in combination with laboratory evidence of inflammation and laboratory or epidemiologic evidence of SARS-CoV-2 infection. Some features of MIS-C resemble Kawasaki Disease, toxic shock syndrome, and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome.
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "COVID-19 -related paediatric inflammatory multisystem syndrome" EXACT OMO:0003005 []
synonym: "COVID-19 -related pediatric inflammatory multisystem syndrome" EXACT [NCIT:C172127]
synonym: "COVID-19 associated multisystem inflammatory syndrome in children" EXACT [https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm]
synonym: "COVID-19 Kawasaki-like syndrome" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "MIS-C" EXACT ABBREVIATION [PMID:32630212]
synonym: "multisystem inflammatory syndrome in children" EXACT [DOID:0080711]
synonym: "multisystem inflammatory syndrome in children associated with coronavirus disease 2019" EXACT [PMID:32768466]
synonym: "multisystem inflammatory syndrome in children associated with COVID-19" EXACT [NCIT:C172127, PMID:32768466]
synonym: "paediatric inflammatory multisystem syndrome" EXACT OMO:0003005 []
synonym: "paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2" EXACT OMO:0003005 []
synonym: "paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2" EXACT OMO:0003005 []
synonym: "paediatric multi-system inflammatory syndrome potentially associated with COVID-19" EXACT OMO:0003005 []
synonym: "paediatric multisystem inflammatory syndrome" EXACT OMO:0003005 []
synonym: "pediatric inflammatory multisystem syndrome" EXACT [NCIT:C172127]
synonym: "pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2" EXACT [PMID:32511692]
synonym: "pediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2" EXACT [PMID:32529358]
synonym: "pediatric multi-system inflammatory syndrome potentially associated with COVID-19" EXACT [NCIT:C172127]
synonym: "pediatric multisystem inflammatory syndrome" EXACT [NCIT:C172127]
synonym: "PIMS" EXACT ABBREVIATION [NCIT:C172127]
synonym: "PIMS-TS" EXACT ABBREVIATION [PMID:32511692, PMID:32529358]
synonym: "PMIS" EXACT ABBREVIATION [NCIT:C172127]
synonym: "SARS-CoV-2 Kawasaki-like syndrome" EXACT [PMID:32439816]
xref: DOID:0080711 {source="MONDO:equivalentTo"}
xref: NCIT:C172127 {source="MONDO:equivalentTo"}
is_a: MONDO:0035375 {source="https://orcid.org/0000-0001-5208-3432"} ! multisystem inflammatory syndrome in children and adults
relationship: disease_has_infectious_agent NCBITaxon:2697049 {source="PMID:32511692", source="PMID:32529358", source="PMID:32630212"} ! Severe acute respiratory syndrome coronavirus 2
relationship: has_characteristic HP:0410280 {source="PMID:32511692", source="PMID:32529358", source="PMID:32630212"} ! Pediatric onset
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100164
name: permanent neonatal diabetes mellitus
def: "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." [Orphanet:99885]
subset: gard_rare {source="GARD:10457", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99885"}
subset: orphanet_rare {source="Orphanet:99885"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "developmental delay, epilepsy, and neonatal diabetes" RELATED [OMIMPS:606176]
synonym: "diabetes mellitus, permanent neonatal" RELATED [MONDO:Lexical, OMIMPS:606176]
synonym: "diabetes mellitus, permanent neonatal, with neurologic features" RELATED [OMIMPS:606176]
synonym: "diabetes mellitus, permanent, of infancy" RELATED [OMIMPS:606176]
synonym: "monogenic diabetes of infancy" EXACT [Orphanet:99885]
synonym: "PDMI" EXACT ABBREVIATION [DOID:0060639, OMIMPS:606176]
synonym: "permanent diabetes mellitus of infancy" EXACT [DOID:0060639]
synonym: "PNDM" EXACT ABBREVIATION [DOID:0060639, MONDO:Lexical, OMIMPS:606176, Orphanet:99885]
xref: DOID:0060639 {source="MONDO:equivalentTo"}
xref: GARD:10457 {source="MONDO:GARD"}
xref: ICD10CM:P70.2 {source="Orphanet:99885", source="Orphanet:99885/attributed", source="Orphanet:99885/ntbt"}
xref: MEDGEN:371484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563425 {source="MONDO:equivalentTo"}
xref: NCIT:C114902 {source="MONDO:equivalentTo"}
xref: OMIMPS:606176 {source="Orphanet:99885", source="MONDO:equivalentTo", source="Orphanet:99885/e", source="DOID:0060639"}
xref: Orphanet:79134 {source="OMIMPS:606176"}
xref: Orphanet:99885 {source="MONDO:equivalentTo", source="OMIMPS:606176"}
xref: SCTID:609565001 {source="MONDO:equivalentTo"}
xref: UMLS:C1833104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371484"}
is_a: MONDO:0016391 {source="https://orcid.org/0000-0001-5208-3432"} ! neonatal diabetes mellitus
is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:606176"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus" xsd:anyURI {source="GARD:0010457"}

[Term]
id: MONDO:0100165
name: permanent neonatal diabetes mellitus 1
def: "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." [OMIM:606176]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "diabetes mellitus, permanent neonatal 1" EXACT [OMIM:606176, OMIM:genemap2]
synonym: "diabetes mellitus, permanent, of infancy" RELATED [OMIM:606176]
synonym: "PDMI" RELATED ABBREVIATION [OMIM:606176]
synonym: "PNDM1" EXACT ABBREVIATION [OMIM:606176]
xref: MEDGEN:1717586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606176 {source="MONDO:equivalentTo"}
xref: UMLS:C5393570 {source="MEDGEN:1717586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100164 {source="OMIM:606176"} ! permanent neonatal diabetes mellitus
intersection_of: MONDO:0100164 ! permanent neonatal diabetes mellitus
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4195 ! GCK
relationship: has_characteristic HP:0000007 {source="OMIM:606176"} ! Autosomal recessive inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100166
name: PPP2R1A-related intellectual disability
def: "Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene." [https://clinicalgenome.org/affiliation/40006/]
is_a: MONDO:0001071 {source="https://clinicalgenome.org/affiliation/40006/"} ! intellectual disability
intersection_of: MONDO:0001071 ! intellectual disability
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9302 ! PPP2R1A
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5522" xsd:anyURI

[Term]
id: MONDO:0100167
name: pulmonary disease, chronic obstructive, susceptibility to
def: "An inherited susceptibility or predisposition to developing COPD." [MONDO:patterns/inherited_susceptibility]
xref: MEDGEN:854229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606963 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3838076 {source="MEDGEN:854229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:606963"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005002 {source="OMIM:606963"} ! chronic obstructive pulmonary disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100168
name: desmoid tumor caused by somatic mutation
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0111349 {source="MONDO:equivalentTo"}
xref: MEDGEN:436434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:135290 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2675440 {source="MEDGEN:436434", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007608 {source="OMIM:135290"} ! desmoid tumor
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: RO:0004004 http://identifiers.org/hgnc/583 {source="OMIM:135290"} ! has material basis in somatic mutation in APC
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2808#issuecomment-797765939" xsd:anyURI

[Term]
id: MONDO:0100169
name: polyneuropathy, inflammatory demyelinating, chronic
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CIDP" EXACT ABBREVIATION [OMIM:139393]
xref: OMIM:139393 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0016218 {source="OMIM:139393"} ! Guillain-Barre syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2808" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0100170
name: restless legs syndrome, susceptibility to
def: "An inherited susceptibility or predisposition to developing restless legs syndrome." [MONDO:patterns/inherited_susceptibility]
xref: OMIMPS:102300 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:102300"} ! inherited
relationship: predisposes_towards MONDO:0005391 {source="OMIMPS:102300"} ! restless legs syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100171
name: psoriasis, susceptibility to
def: "An inherited susceptibility or predisposition to developing psoriasis." [MONDO:patterns/inherited_susceptibility]
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100172
name: intellectual disability, autosomal dominant
subset: otar {source="MONDO:OTAR"}
synonym: "autosomal dominant intellectual disability" EXACT [OMIMPS:156200]
synonym: "mental retardation, autosomal dominant" BROAD DEPRECATED [OMIMPS:156200]
xref: OMIMPS:156200 {source="MONDO:equivalentTo"}
is_a: MONDO:0001071 {source="OMIMPS:156200"} ! intellectual disability
intersection_of: MONDO:0001071 ! intellectual disability
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:156200"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100173
name: leukemia, acute myeloid, susceptibility to
def: "An inherited susceptibility or predisposition to developing leukemia, acute myeloid." [MONDO:patterns/inherited_susceptibility]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:477590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601626 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3275959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477590"}
is_a: MONDO:0020573 {source="OMIM:601626"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0018874 {source="OMIM:601626"} ! acute myeloid leukemia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100174
name: age related macular degeneration, susceptibility to
def: "An inherited susceptibility or predisposition to developing age related macular degeneration." [MONDO:patterns/inherited_susceptibility]
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100175
name: TTN-related myopathy
def: "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." [https://clinicalgenome.org/affiliation/40031/, PMID:27854229, PMID:29691892]
comment: In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "congenital myopathy related to TTN" EXACT [https://clinicalgenome.org/affiliation/40031/]
synonym: "TTN myopathy" EXACT [https://clinicalgenome.org/affiliation/40031/]
is_a: MONDO:0016191 {source="https://orcid.org/0000-0002-6601-2165"} ! qualitative or quantitative defects of titin
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
intersection_of: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100176
name: AP-4 deficiency syndrome
def: "A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures." [https://clinicalgenome.org/affiliation/40006/, PMID:29193663, PMID:29430868, PMID:30543385, PMID:32171285]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "AP-4 deficiency syndrome" EXACT CLINGEN_LABEL []
is_a: MONDO:0003847 {source="https://clinicalgenome.org/affiliation/40006/"} ! hereditary disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100177
name: allergic rhinitis, susceptibility to
def: "An inherited susceptibility or predisposition to developing allergic rhinitis." [MONDO:patterns/inherited_susceptibility]
synonym: "allergic rhinitis, susceptibility to" EXACT [OMIM:607154, OMIM:genemap2]
xref: MEDGEN:865977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607154 {source="MONDO:equivalentTo"}
xref: UMLS:C4017540 {source="MEDGEN:865977", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:607154"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5973 ! IL13
intersection_of: predisposes_towards MONDO:0011786 ! allergic rhinitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100178
name: dermatitis, atopic, susceptibility to
def: "An inherited susceptibility or predisposition to developing atopic dermatitis." [MONDO:patterns/inherited_susceptibility]
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0011292 {source="https://orcid.org/0000-0001-5208-3432"} ! dermatitis, atopic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100179
name: Hirschsprung disease, susceptibility to
def: "An inherited susceptibility or predisposition to developing Hirschsprung disease." [MONDO:patterns/inherited_susceptibility]
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0018309 {source="https://orcid.org/0000-0001-5208-3432"} ! Hirschsprung disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100180
name: diabetes mellitus, ketosis-prone
def: "An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis." [MONDO:patterns/inherited_susceptibility]
synonym: "diabetes mellitus, ketosis-prone" EXACT [OMIM:612227]
synonym: "diabetes mellitus, ketosis-prone, susceptibility to" EXACT [OMIM:612227, OMIM:genemap2]
synonym: "KPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612227]
xref: MEDGEN:1381503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612227 {source="MONDO:equivalentTo"}
xref: UMLS:C3837958 {source="MONDO:equivalentTo", source="MEDGEN:1381503", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8618 ! PAX4
intersection_of: predisposes_towards MONDO:0012819 ! diabetic ketoacidosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8618 {source="OMIM:612227"} ! PAX4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0100181
name: dermatitis, atopic, 1
def: "An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606." [MONDO:patterns/inherited_susceptibility, OMIM:603165]
synonym: "ATOD1" EXACT ABBREVIATION [OMIM:603165]
synonym: "dermatitis, atopic, susceptibility to, 1" EXACT [OMIM:603165]
xref: OMIM:603165 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0100178 {source="OMIM:603165"} ! dermatitis, atopic, susceptibility to
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5855" xsd:anyURI

[Term]
id: MONDO:0100182
name: schizophrenia, susceptibility to
def: "An inherited susceptibility or predisposition to developing schizophrenia." [MONDO:patterns/inherited_susceptibility]
xref: MEDGEN:390920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2675945 {source="MEDGEN:390920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005090 ! schizophrenia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100183
name: radioulnar synostosis, nonsyndromic, susceptibility to
def: "A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene." [MONDO:patterns/susceptibility_by_gene]
xref: MEDGEN:1712799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:179300 {source="MONDO:equivalentTo"}
xref: UMLS:C5241445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712799"}
is_a: MONDO:0020573 {source="OMIM:179300"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6772 ! SMAD6
intersection_of: predisposes_towards MONDO:0017985 ! congenital radioulnar synostosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100184
name: GTP cyclohydrolase I deficiency
def: "A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset \"benign\" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease." [PMID:18044725, PMID:18276179, PMID:19234759, PMID:19332422, PMID:20818608, PMID:20842687, PMID:22729819, PMID:29471552, PMID:9566389, PMID:9667588]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GTP cyclohydrolase I deficiency" EXACT CLINGEN_LABEL []
synonym: "GTP-cyclohydrolase I deficiency" EXACT [MONDO:0009314]
xref: MEDGEN:75683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0268467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75683"}
is_a: MONDO:0045014 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! tetrahydrobiopterin metabolic process disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4193 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GCH1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100185
name: immune reconstitution inflammatory syndrome
def: "An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens." [PMID:22121257]
synonym: "immune reconstitution inflammatory syndrome associated with Kaposi sarcoma" NARROW [NCIT:C125712]
synonym: "immune reconstitution syndrome" EXACT [PMID:22121257]
synonym: "immune restoration disease" EXACT [PMID:22121257]
synonym: "IRD" EXACT ABBREVIATION [PMID:22121257]
synonym: "IRIS" EXACT ABBREVIATION [PMID:22121257]
synonym: "IRS" EXACT ABBREVIATION [PMID:22121257]
xref: MEDGEN:295297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054019 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C125712 {source="MONDO:relatedTo"}
xref: UMLS:C1619738 {source="MEDGEN:295297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="PMID:22121257"} ! immune system disorder
is_a: MONDO:0021166 {source="PMID:22121257"} ! inflammatory disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100186
name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia
subset: gard_rare {source="GARD:2844", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2102"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910]
synonym: "GTP cyclohydrolase I deficiency" RELATED [Orphanet:2102]
synonym: "GTPCH deficiency" EXACT [Orphanet:2102]
synonym: "HPABH4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233910]
synonym: "hyperphenylalaninemia due to GTP cyclohydrolase deficiency" EXACT [Orphanet:2102]
synonym: "hyperphenylalaninemia, BH4-deficient, B" RELATED [GARD:0002844, MONDO:Lexical, OMIM:233910]
synonym: "hyperphenylalaninemia, Bh4-deficient, type B" EXACT [MONDORULE:1, OMIM:233910]
synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910]
xref: DOID:0112225 {source="MONDO:equivalentTo"}
xref: GARD:2844 {source="MONDO:GARD"}
xref: ICD10CM:E70.1 {source="Orphanet:2102", source="Orphanet:2102/attributed", source="Orphanet:2102/ntbt"}
xref: NCIT:C141442 {source="MONDO:equivalentTo"}
xref: OMIM:233910 {source="Orphanet:2102", source="MONDO:equivalentTo", source="Orphanet:2102/e"}
xref: Orphanet:2102 {source="MONDO:equivalentTo", source="OMIM:233910"}
xref: Orphanet:238583 {source="OMIM:233910"}
xref: SCTID:23447005 {source="MONDO:equivalentTo"}
is_a: MONDO:0016543 {source="DC-OMIM:233910", source="Orphanet:2102"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency
is_a: MONDO:0100184 {source="https://github.com/monarch-initiative/mondo/issues/1491", source="https://orcid.org/0000-0002-5655-9589"} ! GTP cyclohydrolase I deficiency
relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:233910", source="Orphanet:2102"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4193 {source="MONDO:mim2gene_medgen"} ! GCH1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency" xsd:anyURI {source="GARD:0002844"}

[Term]
id: MONDO:0100187
name: opioid-induced constipation
def: "A constipation disorder caused by use of opioids. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy." [https://orcid.org/0000-0001-7151-1615]
synonym: "OIC" EXACT ABBREVIATION [https://orcid.org/0000-0001-7151-1615]
xref: MEDGEN:1641995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3160897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641995"}
is_a: MONDO:0002203 {source="https://orcid.org/0000-0001-7151-1615"} ! constipation disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5542" xsd:anyURI

[Term]
id: MONDO:0100188
name: combined ApoA-I and ApoC-III deficiency
def: "A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III." [MONDO:patterns/inborn_metabolic_disrupts, PMID:3118360]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ApoA-I and apoC-III deficiency, combined" EXACT [OMIM:618463]
is_a: MONDO:0017773 {source="PMID:3118360"} ! hypoalphalipoproteinemia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/600 {source="OMIM:618463"} ! APOA1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/610 {source="PMID:3118360"} ! APOC3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4925" xsd:anyURI

[Term]
id: MONDO:0100189
name: obsolete apolipoprotein A-I deficiency
def: "OBSOLETE. A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." [Orphanet:425]
subset: ordo_disorder {source="Orphanet:425"}
subset: otar {source="MONDO:OTAR"}
synonym: "ApoA-I deficiency" EXACT [Orphanet:425]
synonym: "familial apoA-I deficiency" EXACT [Orphanet:425]
synonym: "familial hypoalphalipoproteinemia" EXACT [Orphanet:425]
xref: GARD:2872 {source="MONDO:obsoleteEquivalent"}
xref: NANDO:2200605 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: Orphanet:425 {source="MONDO:obsoleteEquivalent"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0100190
name: gastric intestinal metaplasia
def: "Metaplastic changes in the lining of the upper digestive tract." [https://my.clevelandclinic.org/health/diseases/22215-intestinal-metaplasia, PMID:29606921]
synonym: "GIM" EXACT [PMID:29606921]
synonym: "intestinal metaplasia" EXACT [PMID:29606921]
xref: MEDGEN:75629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C8360 {source="MONDO:relatedTo"}
xref: UMLS:C0267187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75629"}
is_a: MONDO:0004298 {source="https://orcid.org/0000-0001-7151-1615"} ! stomach disorder
is_a: MONDO:0021074 {source="PMID:29606921"} ! precancerous condition
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5594" xsd:anyURI

[Term]
id: MONDO:0100191
name: inherited kidney disorder
def: "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system." [https://orcid.org/0000-0002-0736-9199]
subset: otar {source="MONDO:OTAR"}
synonym: "genetic renal disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "inherited kidney disease" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "inherited renal disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "nephrogenetic disorder" EXACT [https://orcid.org/0000-0002-0736-9199]
is_a: MONDO:0005240 {source="https://orcid.org/0000-0002-0736-9199"} ! kidney disorder
intersection_of: MONDO:0005240 ! kidney disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5681" xsd:anyURI

[Term]
id: MONDO:0100192
name: liver failure
def: "A liver disease characterized by the liver losing or has lost all of its function." [https://liverfoundation.org/for-patients/about-the-liver/the-progression-of-liver-disease/]
synonym: "hepatic failure" EXACT [NCIT:C26922]
xref: MEDGEN:88444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D017093 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C26922 {source="MONDO:equivalentTo"}
xref: UMLS:C0085605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88444"}
is_a: MONDO:0005154 {source="https://github.com/monarch-initiative/mondo/pull/1871"} ! liver disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100193
name: chronic liver failure
def: "Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition." [https://liverfoundation.org/for-patients/about-the-liver/the-progression-of-liver-disease/]
synonym: "end stage liver disease" EXACT [NCIT:C84428]
synonym: "end stage liver disease (decompensated liver disease)" EXACT [NCIT:C84428]
synonym: "end-stage liver disease" EXACT [NCIT:C84428]
synonym: "ESLD" EXACT ABBREVIATION [NCIT:C84428]
xref: MEDGEN:423539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C84428 {source="MONDO:equivalentTo"}
xref: UMLS:C2936476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423539"}
is_a: MONDO:0100192 {source="https://github.com/monarch-initiative/mondo/pull/1871"} ! liver failure
intersection_of: MONDO:0100192 ! liver failure
intersection_of: has_characteristic PATO:0001863 ! chronic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100194
name: pregnancy associated osteoporosis
def: "A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation." [https://orcid.org/0000-0001-9310-0163, PMID:28217686]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "pregnancy and lactation-associated osteoporosis" EXACT [PMID:28217686]
is_a: MONDO:0005298 {source="https://github.com/monarch-initiative/mondo/issues/2040"} ! osteoporosis
is_a: MONDO:0024575 {source="https://github.com/monarch-initiative/mondo/issues/2040"} ! pregnancy disorder
intersection_of: MONDO:0005298 ! osteoporosis
intersection_of: MONDO:0024575 ! pregnancy disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100195
name: X-linked intellectual disability with hypopituitarism
def: "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease." [https://clinicalgenome.org/affiliation/40006/, PMID:24450934]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0100284 {source="https://orcid.org/0000-0001-5208-3432"} ! X-linked intellectual disability
intersection_of: MONDO:0000508 ! syndromic intellectual disability
intersection_of: disease_has_major_feature MONDO:0005152 ! hypopituitarism
relationship: excluded_subClassOf MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006/", source="https://github.com/monarch-initiative/mondo/issues/2045", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic HP:0001417 {source="PMID:24450934", source="https://clinicalgenome.org/affiliation/40006/"} ! X-linked inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0100196
name: TPM2-related myopathy
def: "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree." [https://clinicalgenome.org/affiliation/40031/, PMID:23413262]
comment: The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal dominant TPM2-related myopathy" EXACT [PMID:23413262]
synonym: "congenital myopathy related to TPM2" EXACT [PMID:23413262]
synonym: "TPM2 myopathy" EXACT [PMID:23413262]
synonym: "TPM2-related myopathy" EXACT CLINGEN_LABEL []
is_a: MONDO:0002320 ! congenital nervous system disorder
is_a: MONDO:0017303 {source="https://clinicalgenome.org/affiliation/40031/"} ! qualitative or quantitative defects of tropomyosin
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
intersection_of: MONDO:0019952 ! congenital myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12011 ! TPM2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100197
name: parainfluenza infectious disease
def: "A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults." [https://orcid.org/0000-0002-8169-9049, MONDO:patterns/infectious_disease_by_agent, OMOP:4008269, PMID:27486735, SCTID:12188008]
comment: Note - this is purposely unaxiomitized with an NCBI taxonomy term because it does not align with NCBI taxonomy.
synonym: "HPIV infectious disorder" EXACT [OMOP:4008269, SCTID:12188008]
synonym: "human parainfluenza virus infectious disorder" RELATED [OMOP:4008269, SCTID:12188008]
synonym: "human parainfluenza viruses infectious disorder" RELATED [OMOP:4008269, SCTID:12188008]
synonym: "parainfluenza (disorder)" EXACT [OMOP:4008269, SCTID:12188008]
synonym: "parainfluenza infectious disorder" EXACT [OMOP:4008269, SCTID:12188008]
xref: SCTID:12188008
is_a: MONDO:0005896 {source="https://orcid.org/0000-0002-8169-9049"} ! Paramyxoviridae infectious disease
union_of: MONDO:0042974 ! parainfluenza virus type 3 infectious disease
union_of: MONDO:0100203 ! parainfluenza virus type 1 infectious disease
union_of: MONDO:0100204 ! parainfluenza virus type 2 infectious disease
union_of: MONDO:0100205 ! parainfluenza virus type 4 infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2063" xsd:anyURI

[Term]
id: MONDO:0100198
name: Mendelian encephalopathy
def: "An instance of encephalopathy that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0736-9199"} ! hereditary disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI

[Term]
id: MONDO:0100199
name: diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:137215 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0020573 {source="OMIM:137215"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 {source="OMIM:137215"} ! CDH1
relationship: predisposes_towards MONDO:0000552 {source="OMIM:137215"} ! breast lobular carcinoma
relationship: predisposes_towards MONDO:0018502 {source="OMIM:137215"} ! hereditary gastric cancer
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5720" xsd:anyURI

[Term]
id: MONDO:0100200
name: microcephaly with intellectual disability
def: "Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes." [https://clinicalgenome.org/affiliation/40006/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "microcephaly with neurodevelopmental phenotypes" EXACT [https://clinicalgenome.org/affiliation/40006/]
is_a: MONDO:0001149 {source="https://clinicalgenome.org/affiliation/40006/"} ! microcephaly
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5725" xsd:anyURI

[Term]
id: MONDO:0100201
name: lumbar disk disease
def: "A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants." [OMIM:603932]
xref: MEDGEN:67462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603932 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C0221775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:67462"}
is_a: MONDO:0000812 {source="OMIM:603932"} ! vertebral column disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5633" xsd:anyURI

[Term]
id: MONDO:0100202
name: lumbar disk herniation, susceptibility to
xref: MEDGEN:393597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603932 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2676840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393597"}
is_a: MONDO:0020573 {source="OMIM:603932"} ! inherited disease susceptibility
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5633" xsd:anyURI

[Term]
id: MONDO:0100203
name: parainfluenza virus type 1 infectious disease
def: "A disease caused by infection with parainfluenza virus type 1." [https://orcid.org/0000-0002-8169-9049, MONDO:patterns/infectious_disease_by_agent, PMID:27197630]
comment: Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy.
synonym: "human respirovirus 1 infectious disease" EXACT []
synonym: "infection caused by human parainfluenza virus 1" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4248511, SCTID:407496005]
synonym: "infection due to human parainfluenza virus 1" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4248511, SCTID:407496005]
synonym: "parainfluenza 1 infection" RELATED [https://orcid.org/0000-0002-8169-9049, OMOP:4248511, SCTID:407496005]
xref: SCTID:407496005
is_a: MONDO:0100197 ! parainfluenza infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12730 ! disease has primary infectious agent Human respirovirus 1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2063" xsd:anyURI

[Term]
id: MONDO:0100204
name: parainfluenza virus type 2 infectious disease
def: "A disease caused by infection with parainfluenza virus type 2." [https://orcid.org/0000-0002-8169-9049, MONDO:patterns/infectious_disease_by_agent, PMID:27197630]
comment: Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy.
synonym: "human rubulavirus 2 infectious disease" EXACT []
synonym: "infection caused by human parainfluenza virus 2" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4289924, SCTID:70233007]
synonym: "infection due to human parainfluenza virus 2" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4289924, SCTID:70233007]
xref: SCTID:70233007
is_a: MONDO:0100197 ! parainfluenza infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:2560525 ! disease has primary infectious agent Human orthorubulavirus 2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2063" xsd:anyURI

[Term]
id: MONDO:0100205
name: parainfluenza virus type 4 infectious disease
def: "A disease caused by infection with parainfluenza virus type 4." [https://orcid.org/0000-0002-8169-9049, MONDO:patterns/infectious_disease_by_agent, PMID:21636318, PMID:27197630]
comment: Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy.
synonym: "human rubulavirus 4 infectious disease" EXACT []
synonym: "infection caused by human parainfluenza virus 4" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4288743, SCTID:68949000]
synonym: "infection caused by parainfluenza virus 4" RELATED [https://orcid.org/0000-0002-8169-9049, OMOP:4288743, SCTID:68949000]
synonym: "infection due to human parainfluenza virus 4" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4288743, SCTID:68949000]
synonym: "infection due to parainfluenza virus 4" RELATED [https://orcid.org/0000-0002-8169-9049, OMOP:4288743, SCTID:68949000]
xref: SCTID:68949000
is_a: MONDO:0100197 ! parainfluenza infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:2560526 ! disease has primary infectious agent Human orthorubulavirus 4
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2063" xsd:anyURI

[Term]
id: MONDO:0100206
name: lumbar disk degeneration, susceptibility to
xref: MEDGEN:390827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603932 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2675551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390827"}
is_a: MONDO:0020573 {source="OMIM:603932"} ! inherited disease susceptibility
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5633" xsd:anyURI

[Term]
id: MONDO:0100207
name: infantile-onset epilepsy
def: "Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders." [https://clinicalgenome.org/affiliation/40005/]
comment: Note, this differs from MONDO:0020071 'infantile epilepsy syndrome', as there are forms of this disease that do not have a syndromic presentation.
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
is_a: MONDO:0005027 {source="https://clinicalgenome.org/affiliation/40005/"} ! epilepsy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5740" xsd:anyURI

[Term]
id: MONDO:0100208
name: self-limited familial neonatal-infantile epilepsy
def: "An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically." [https://clinicalgenome.org/affiliation/40005/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0100022 {source="https://clinicalgenome.org/affiliation/40005/"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5793" xsd:string
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI

[Term]
id: MONDO:0100209
name: X inactivation, familial skewed
comment: This is a placeholder class for what we expect will be a future OMIM grouping class (phenotypic series).
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100210
name: growth hormone insensitivity syndrome with immune dysregulation
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:245590 {source="MONDO:equivalentTo"}
is_a: MONDO:0015892 {source="https://orcid.org/0000-0001-5208-3432"} ! growth hormone insensitivity syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:245590"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100211
name: growth hormone insensitivity with immune dysregulation 1, autosomal recessive
subset: gard_rare {source="GARD:18311", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:220465"}
subset: orphanet_rare {source="Orphanet:220465"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "growth hormone insensitivity due to postreceptor defect" EXACT [OMIM:245590]
synonym: "growth hormone insensitivity with immunodeficiency" RELATED [OMIM:245590]
synonym: "Laron syndrome due to postreceptor defect" EXACT [OMIM:245590]
synonym: "Laron syndrome with immunodeficiency" EXACT [MONDO:0009510]
synonym: "Laron-like syndrome" EXACT [Orphanet:220465]
synonym: "short stature due to STAT5b deficiency" EXACT [Orphanet:220465]
xref: DOID:0080836 {source="MONDO:equivalentTo"}
xref: GARD:18311 {source="MONDO:GARD"}
xref: ICD10CM:D82.8 {source="Orphanet:220465/attributed", source="Orphanet:220465/ntbt", source="Orphanet:220465"}
xref: ICD10CM:E34.3 {source="Orphanet:220465/attributed", source="Orphanet:220465/ntbt", source="Orphanet:220465"}
xref: MEDGEN:1734133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537871 {source="MONDO:equivalentTo"}
xref: NANDO:2200737 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:245590 {source="Orphanet:220465", source="MONDO:equivalentTo", source="Orphanet:220465/e"}
xref: Orphanet:220465 {source="OMIM:245590", source="MONDO:equivalentTo"}
xref: SCTID:724179008 {source="MONDO:equivalentTo"}
xref: UMLS:C5435698 {source="MEDGEN:1734133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder
is_a: MONDO:0015892 {source="Orphanet:220465"} ! growth hormone insensitivity syndrome
is_a: MONDO:0100210 ! growth hormone insensitivity syndrome with immune dysregulation
intersection_of: MONDO:0100210 ! growth hormone insensitivity syndrome with immune dysregulation
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11367 ! STAT5B
relationship: has_characteristic HP:0000007 {source="OMIM:245590"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11367 {source="MONDO:mim2gene_medgen"} ! STAT5B
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI

[Term]
id: MONDO:0100212
name: IFAP syndrome
subset: gard_rare {source="GARD:2952", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2273"}
subset: orphanet_rare {source="Orphanet:2273"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis follicularis-alopecia-photophobia syndrome" EXACT [Orphanet:2273]
synonym: "ichthyosis follicularis-atrichia-photophobia syndrome" EXACT [Orphanet:2273]
synonym: "IFAP syndrome" EXACT [OMIMPS:308205, Orphanet:2273]
xref: GARD:2952 {source="MONDO:GARD"}
xref: MEDGEN:327007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:308205 {source="MONDO:equivalentTo"}
xref: Orphanet:2273 {source="MONDO:equivalentTo"}
xref: UMLS:C1839988 {source="MEDGEN:327007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0015947 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:308205"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI

[Term]
id: MONDO:0100213
name: IFAP syndrome 1, with or without BRESHECK syndrome
def: "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome." [OMIM:308205]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:15297", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis follicularis atrichia photophobia syndrome" RELATED [GARD:0002952]
synonym: "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" EXACT [OMIM:308205]
synonym: "ichthyosis follicularis-alopecia-photophobia syndrome" BROAD [https://clinicalgenome.org/affiliation/40006/, https://github.com/monarch-initiative/mondo/issues/1144]
synonym: "IFAP syndrome with or without BRESHECK syndrome" EXACT CLINGEN_LABEL [OMIM:308205]
synonym: "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive" EXACT [OMIM:308205, OMIM:genemap2]
synonym: "IFAP/BRESHECK syndrome" EXACT [MONDO:0010624]
xref: DOID:0111821 {source="MONDO:equivalentTo"}
xref: GARD:15297 {source="MONDO:GARD"}
xref: MEDGEN:1746744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536085 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"}
xref: NANDO:2200999 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:308205 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source="Orphanet:2273"}
xref: Orphanet:2273 {source="OMIM:308205"}
xref: Orphanet:85284 {source="OMIM:308205"}
xref: UMLS:C5399971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1746744"}
is_a: MONDO:0100212 {xref="OMIM:308205", source="https://orcid.org/0000-0001-5208-3432"} ! IFAP syndrome
intersection_of: MONDO:0100212 ! IFAP syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15455 ! MBTPS2
relationship: excluded_subClassOf MONDO:0015331 {source="Orphanet:2273", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformation syndrome with skin/mucosae involvement
relationship: excluded_subClassOf MONDO:0017269 {source="Orphanet:2273", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked ichthyosis syndrome
relationship: excluded_subClassOf MONDO:0021034 {source="Orphanet:2273", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary alopecia
relationship: has_characteristic HP:0001419 {xref="OMIM:308205"} ! X-linked recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15455 {source="MONDO:mim2gene_medgen"} ! MBTPS2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI

[Term]
id: MONDO:0100214
name: Rajab interstitial lung disease with brain calcifications
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:462260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:613658 {source="MONDO:equivalentTo"}
xref: UMLS:C3150910 {source="MEDGEN:462260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015925 {source="https://orcid.org/0000-0001-5208-3432"} ! interstitial lung disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613658"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100215
name: Rajab interstitial lung disease with brain calcifications 1
subset: gard_rare {source="GARD:18297", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:178506"}
subset: orphanet_rare {source="Orphanet:178506"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "brain calcification, Rajab type" EXACT [MONDO:0013346]
synonym: "developmental delay, small stature, microcephaly, and brain calcifications" RELATED [OMIM:613658]
synonym: "NEDBLLA" RELATED ABBREVIATION [OMIM:618007]
synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities" EXACT [OMIM:618007]
synonym: "Rajab syndrome" RELATED [OMIM:613658]
xref: GARD:18297 {source="MONDO:GARD"}
xref: MEDGEN:1750003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613658 {source="Orphanet:178506/e", source="MONDO:equivalentTo", source="Orphanet:178506"}
xref: OMIM:618007 {source="MONDO:equivalentObsolete"}
xref: Orphanet:178506 {source="MONDO:equivalentTo", source="OMIM:613658"}
xref: SCTID:720576001 {source="MONDO:equivalentTo"}
xref: UMLS:C5436276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1750003"}
is_a: MONDO:0100214 {source="OMIM:613658"} ! Rajab interstitial lung disease with brain calcifications
intersection_of: MONDO:0100214 ! Rajab interstitial lung disease with brain calcifications
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17800 ! FARSB
relationship: has_characteristic HP:0000007 {source="OMIM:613658"} ! Autosomal recessive inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100216
name: DICER1-related tumor predisposition
def: "Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described." [https://clinicalgenome.org/affiliation/40023/, https://clinicalgenome.org/affiliation/50050/, PMID:21266384, PMID:24761742, PMID:34599283]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:10734", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:284343"}
subset: orphanet_rare {source="Orphanet:284343"}
subset: rare
synonym: "DICER1 syndrome" EXACT CLINGEN_LABEL [GARD:0010734, NCIT:C123317, Orphanet:284343]
synonym: "DICER1-related pleuropulmonary blastoma" RELATED [GARD:0010734]
synonym: "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" RELATED [GARD:0010734]
synonym: "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343]
synonym: "pleuro-pulmonary blastoma familial tumour susceptibility syndrome" EXACT OMO:0003005 []
synonym: "pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343]
synonym: "pleuropulmonary blastoma familial tumour susceptibility syndrome" EXACT OMO:0003005 []
synonym: "PPB familial tumor susceptibility syndrome" EXACT [Orphanet:284343]
synonym: "PPB familial tumour susceptibility syndrome" EXACT OMO:0003005 []
synonym: "PPBFTDS" EXACT ABBREVIATION [Orphanet:284343]
xref: DOID:0081063 {source="MONDO:equivalentTo"}
xref: GARD:10734 {source="MONDO:GARD"}
xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:825667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C123317 {source="MONDO:equivalentTo"}
xref: Orphanet:284343 {source="MONDO:equivalentTo"}
xref: SCTID:702411003 {source="MONDO:equivalentTo"}
xref: UMLS:C3839822 {source="MEDGEN:825667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C123317/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 {source="https://clinicalgenome.org/affiliation/40023/", source="https://clinicalgenome.org/affiliation/50050/"} ! DICER1
relationship: predisposes_towards MONDO:0004992 {source="https://clinicalgenome.org/affiliation/40023/", source="https://clinicalgenome.org/affiliation/50050/"} ! cancer
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5779" xsd:string
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6460" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome" xsd:anyURI {source="GARD:0010734"}

[Term]
id: MONDO:0100217
name: developmental delay with short stature, dysmorphic facial features, and sparse hair 2
def: "Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene." [MONDO:patterns/disease_series_by_gene]
synonym: "DEDSSH2" EXACT ABBREVIATION [OMIM:620062]
synonym: "diphthamide deficiency syndrome 2" EXACT [OMIM:620062]
xref: DOID:0070478 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620062 {source="MONDO:equivalentTo"}
xref: UMLS:C5774223 {source="MEDGEN:1823996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031632 {source="OMIM:620062"} ! developmental delay with short stature, dysmorphic facial features, and sparse hair
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100218
name: arthrogryposis multiplex congenita 5
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AMC5" EXACT ABBREVIATION [OMIM:618947]
synonym: "ARTHROGRYPOSIS MULTIPLEX CONGENITA 5" EXACT [OMIM:618947]
xref: DOID:0080981 {source="MONDO:equivalentTo"}
xref: MEDGEN:1731112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618947 {source="MONDO:equivalentTo"}
xref: UMLS:C5436453 {source="MEDGEN:1731112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015168 {source="OMIM:618947"} ! arthrogryposis multiplex congenita
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100219
name: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
subset: gard_rare {source="GARD:18312", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GHISID2" EXACT ABBREVIATION [OMIM:618985]
synonym: "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT" EXACT [OMIM:618985]
synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT [OMIM:618985, OMIM:genemap2]
xref: DOID:0080837 {source="MONDO:equivalentTo"}
xref: GARD:18312 {source="MONDO:GARD"}
xref: MEDGEN:1723138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618985 {source="MONDO:equivalentTo"}
xref: UMLS:C5436546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1723138"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100210 {source="OMIM:618985"} ! growth hormone insensitivity syndrome with immune dysregulation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100220
name: Rajab interstitial lung disease with brain calcifications 2
subset: gard_rare {source="GARD:18298", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2" EXACT [OMIM:619013]
synonym: "RILDBC2" EXACT ABBREVIATION [OMIM:619013]
xref: GARD:18298 {source="MONDO:GARD"}
xref: MEDGEN:1770895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619013 {source="MONDO:equivalentTo"}
xref: UMLS:C5436603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1770895"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100214 {source="OMIM:619013"} ! Rajab interstitial lung disease with brain calcifications
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100221
name: IFAP syndrome 2
subset: gard_rare {source="GARD:16402", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ichthyosis , follicular, with atrichia and photophobia syndrome 2" EXACT [OMIM:619016, OMIM:genemap2]
synonym: "ichthyosis follicularis, atrichia, and photophobia syndrome 2" EXACT [OMIM:619016]
synonym: "IFAP SYNDROME 2" EXACT [OMIM:619016]
synonym: "IFAP2" EXACT ABBREVIATION [OMIM:619016]
xref: GARD:16402 {source="MONDO:GARD"}
xref: MEDGEN:1763502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619016 {source="MONDO:equivalentTo"}
xref: UMLS:C5436607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1763502"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100212 {source="OMIM:619016"} ! IFAP syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100222
name: A20 haploinsufficiency
def: "Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene." [PMID:32514655]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HA20" EXACT ABBREVIATION [PMID:32514655]
xref: NANDO:1200997 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NANDO:2200458 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity
is_a: MONDO:0003847 {source="PMID:32514655"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11896 {source="PMID:32514655"} ! TNFAIP3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100223
name: mitochondrial complex I deficiency, nuclear type
comment: Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0112065 {source="MONDO:equivalentTo"}
xref: OMIMPS:252010 {source="MONDO:equivalentTo"}
is_a: MONDO:0100133 {xref="https://orcid.org/0000-0001-5208-3432", source="OMIMPS:252010", source="https://github.com/monarch-initiative/mondo/issues/1042"} ! mitochondrial complex I deficiency
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:252010"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100224
name: mitochondrial complex I deficiency, nuclear type 1
subset: gard_rare {source="GARD:15201", source="MONDO:GARD"}
subset: rare
synonym: "MC1DN1" EXACT ABBREVIATION [OMIM:252010]
synonym: "mitochondrial complex 1 deficiency" BROAD [OMIM:252010]
synonym: "mitochondrial complex I deficiency" BROAD [OMIM:252010]
synonym: "mitochondrial complex I deficiency, nuclear type 1" EXACT CLINGEN_LABEL []
synonym: "mitochondrial NADH dehydrogenase component of Complex I, deficiency of" EXACT [OMIM:252010]
synonym: "NADH-coenzyme Q reductase deficiency" EXACT [OMIM:252010]
synonym: "NADH:Q(1) oxidoreductase deficiency" EXACT [OMIM:252010]
xref: DOID:0112074 {source="MONDO:equivalentTo"}
xref: GARD:15201 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:2609/attributed", source="Orphanet:2609/ntbt", source="Orphanet:2609"}
xref: MESH:C537475 {source="DOID:0060536"}
xref: NANDO:1200180 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: OMIM:252010 {source="Orphanet:2609/e", source="MONDO:equivalentTo", source="DOID:0060536", source="Orphanet:2609"}
xref: Orphanet:2609 {source="OMIM:252010", source="DOID:0060536"}
is_a: MONDO:0009637 {source="Orphanet:2609"} ! inborn mitochondrial myopathy
is_a: MONDO:0100223 {source="MONDO:metaclass", source="OMIM:252010", source="https://github.com/monarch-initiative/mondo/issues/1042", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex I deficiency, nuclear type
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7711 ! NDUFS4
relationship: excluded_subClassOf MONDO:0000066 {source="DC-OMIM:252010", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex deficiency
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2609", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100225
name: collagen 6-related myopathy
def: "A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other." [https://clinicalgenome.org/affiliation/40031/, PMID:21691338]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "collagen 6-related myopathy" EXACT CLINGEN_LABEL []
synonym: "collagen VI-related dystrophy" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1503/, https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy, PMID:18351526]
synonym: "collagen VI-related muscle disorder" EXACT [PMID:21691338]
synonym: "collagen VI-related muscular dystrophy" EXACT [PMID:21691338]
synonym: "collagen VI-related myopathy" EXACT [PMID:21691338]
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
is_a: MONDO:0016139 ! qualitative or quantitative protein defects in neuromuscular diseases
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2214" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6720" xsd:anyURI

[Term]
id: MONDO:0100226
name: parasomnia, sleepwalking type
def: "A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%)." [OMIM:613938]
comment: Editor note: Consider splitting this into a separate Mendelian form of this disease that is equivalent to the OMIM term.
synonym: "parasomnia, sleep terrors type" RELATED [OMIM:613938]
synonym: "parasomnia, sleepwalking type" EXACT [OMIM:613938]
synonym: "parasomnia, sleepwalking type, multifactorial" EXACT [OMIM:613938, OMIM:genemap2]
synonym: "PSMNSW" EXACT ABBREVIATION [MONDO:0013494, MONDO:Lexical, OMIM:613938]
synonym: "sleep walking" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:377535, SCTID:80495009]
synonym: "sleep walking disorder" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:377535, SCTID:80495009]
synonym: "sleepwalking disorder" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:377535, SCTID:80495009]
synonym: "somnambulism" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:377535, SCTID:80495009]
xref: MEDGEN:462713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D013009 {source="MONDO:equivalentTo"}
xref: OMIM:613938 {source="MONDO:equivalentTo"}
xref: UMLS:C3151363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462713"}
is_a: MONDO:0100081 {source="https://github.com/monarch-initiative/mondo/issues/2083"} ! sleep disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2083" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100227
name: ALS2-related motor neuron disease
def: "Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene." [https://orcid.org/0000-0002-7437-8060, PMID:35053075]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Alsin-related motor neuron disease" EXACT [https://orcid.org/0000-0002-7437-8060, PMID:35053075]
is_a: MONDO:0024257 {source="PMID:35053075", source="https://orcid.org/0000-0002-7437-8060"} ! hereditary motor neuron disease
intersection_of: MONDO:0020128 ! motor neuron disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/443 ! ALS2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5830" xsd:anyURI

[Term]
id: MONDO:0100228
name: LAMA2-related muscular dystrophy
def: "Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene." [https://clinicalgenome.org/affiliation/40031/, PMID:30055037]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "LAMA2-related muscular dystrophy" EXACT CLINGEN_LABEL []
xref: MEDGEN:1826054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5679788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826054"}
intersection_of: MONDO:0020121 ! muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 ! LAMA2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100229
name: obsolete Heimler syndrome
def: "OBSOLETE. A peroxisoome biogenesis disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes." [MONDO:patterns/disease_series_by_gene, PMID:26387595]
subset: ordo_disorder {source="Orphanet:3220"}
subset: ordo_malformation_syndrome {source="Orphanet:3220"}
synonym: "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects" RELATED [GARD:0001687]
synonym: "deafness enamel hypoplasia nail defects" RELATED [GARD:0001687]
synonym: "deafness-enamel hypoplasia-nail defects syndrome" EXACT [MONDO:0009325]
synonym: "Heimler syndrome" EXACT [Orphanet:3220]
synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" RELATED [GARD:0001687]
xref: GARD:1687 {source="MONDO:obsoleteEquivalent"}
xref: MESH:C535994 {source="MONDO:obsoleteEquivalent", source="Orphanet:3220/e", source="Orphanet:3220"}
xref: Orphanet:3220 {source="OMIM:234580", source="MONDO:obsoleteEquivalent"}
xref: SCTID:721085000 {source="MONDO:obsoleteEquivalent"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3222" xsd:anyURI
is_obsolete: true
consider: MONDO:0100259

[Term]
id: MONDO:0100230
name: fatty acyl-CoA reductase 1 upregulation
def: "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids." [https://www.clinicalgenome.org/affiliation/40049/, PMID:37236006]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "FAR1 upregulation" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "fatty acyl-CoA reductase 1 upregulation" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0005071 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! nervous system disorder
is_a: MONDO:0100275 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! fatty acyl-CoA reductase defects
relationship: has_characteristic HP:0000006 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26222 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! FAR1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100231
name: psoriatic arthritis, susceptibility to, 1
def: "A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement." [MONDO:patterns/susceptibility_by_gene, OMIM:607507]
synonym: "PSORAS1" EXACT ABBREVIATION [OMIM:607507]
synonym: "psoriatic arthritis susceptibility caused by LTA" EXACT [MONDO:patterns/susceptibility_by_gene]
synonym: "psoriatic arthritis, susceptibility to" BROAD [OMIM:607507, OMIM:genemap2]
synonym: "psoriatic arthritis, susceptibility to, 1" EXACT [OMIM:607507]
xref: MEDGEN:375279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607507 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1843772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375279"}
is_a: MONDO:0100232 {source="https://orcid.org/0000-0001-5208-3432"} ! psoriatic arthritis, susceptibility to
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6709 ! LTA
intersection_of: predisposes_towards MONDO:0011849 ! psoriatic arthritis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0100232
name: psoriatic arthritis, susceptibility to
def: "An inherited susceptibility or predisposition to developing psoriatic arthritis." [MONDO:patterns/inherited_susceptibility]
synonym: "psoriatic arthritis, susceptibility" EXACT [MONDO:patterns/inherited_susceptibility]
synonym: "psoriatic arthritis, susceptibility to" EXACT [MONDO:patterns/inherited_susceptibility]
xref: MEDGEN:322604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607507 {source="MONDO:equivalentTo"}
xref: UMLS:C1835223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322604"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0011849 ! psoriatic arthritis

[Term]
id: MONDO:0100233
name: long COVID-19
def: "A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction." [https://twitter.com/simoncgordon/status/1321135109572091905, PMID:32644129, PMID:32788251]
synonym: "long haul COVID-19" EXACT [PMID:32644129, PMID:32788251]
synonym: "long-haul COVID-19" EXACT [PMID:32644129, PMID:32788251]
synonym: "PASC" EXACT ABBREVIATION [PMID:33791733]
synonym: "post-acute sequelae of COVID-19" EXACT [PMID:33791733]
synonym: "post-acute sequelae of SARS-CoV-2 infection" EXACT [https://orcid.org/0000-0002-4142-7153, https://www.nih.gov/about-nih/who-we-are/nih-director/statements/nih-launches-new-initiative-study-long-covid]
synonym: "sequelae of COVID-19" EXACT [PMID:33791733]
xref: DOID:0080848 {source="MONDO:equivalentTo"}
xref: MedDRA:10085503 {source="MONDO:relatedTo"}
xref: MedDRA:10085504 {source="MONDO:equivalentTo"}
xref: MEDGEN:1735839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000094024 {source="MONDO:equivalentTo"}
xref: NCIT:C179263 {source="MONDO:equivalentTo"}
xref: UMLS:C5433293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1735839"}
is_a: MONDO:0100320 {source="PMID:32644129", source="PMID:32788251", source="https://github.com/monarch-initiative/mondo/issues/2896"} ! post-COVID-19 disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6341" xsd:anyURI

[Term]
id: MONDO:0100234
name: paroxysmal familial ventricular fibrillation
def: "A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence." [Orphanet:228140]
subset: gard_rare {source="GARD:4227", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:228140"}
subset: orphanet_rare {source="Orphanet:228140"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic ventricular fibrillation" EXACT [GARD:0004227]
synonym: "idiopathic ventricular fibrillation, non Brugada type" EXACT [Orphanet:228140]
synonym: "IVF" EXACT ABBREVIATION [GARD:0004227]
synonym: "paroxysmal familial ventricular fibrillation" EXACT [GARD:0004227]
synonym: "paroxysmal familial ventricular fibrillation (disorder)" EXACT []
synonym: "paroxysmal ventricular fibrillation" EXACT [GARD:0004227]
synonym: "ventricular fibrillation, paroxysmal familial" EXACT [GARD:0004227]
xref: GARD:4227 {source="MONDO:GARD"}
xref: MEDGEN:83310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:228140 {source="MONDO:equivalentTo", source="OMIM:603829"}
xref: UMLS:C0340493 {source="MEDGEN:83310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000190 {source="https://orcid.org/0000-0001-5208-3432"} ! ventricular fibrillation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2524" xsd:anyURI

[Term]
id: MONDO:0100235
name: FOXC1-related anterior segment dysgenesis
def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene." [https://clinicalgenome.org/affiliation/40077/]
comment: The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the 2 entities (anterior segment dysgenesis 3 and Axenfeld-Rieger syndrome 3) into FOXC1-related anterior segment dysgenesis based on consistent molecular mechanism (loss of function) and mode of inheritance (autosomal dominant), while the phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities.
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0011119 {source="https://clinicalgenome.org/affiliation/40077/"} ! iridogoniodysgenesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3800 {source="https://clinicalgenome.org/affiliation/40077/"} ! FOXC1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5789" xsd:anyURI

[Term]
id: MONDO:0100236
name: LTBP2-related ocular dysgenesis
def: "Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene." [https://clinicalgenome.org/affiliation/40077/]
comment: The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the three disease entities reported in relation to LTBP2 into LTBP2-related ocular dysgenesis based on similar inheritance patterns and molecular mechanism
is_a: MONDO:0005328 {source="https://clinicalgenome.org/affiliation/40077/"} ! eye disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI

[Term]
id: MONDO:0100237
name: inherited cutis laxa
def: "An instance of cutis laxa that is inherited." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary cutis laxa" EXACT [MONDO:patterns/hereditary]
xref: MEDGEN:609465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:123700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C0432334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:609465"}
is_a: MONDO:0016175 {source="OMIMPS:123700"} ! cutis laxa
intersection_of: MONDO:0016175 ! cutis laxa
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100238
name: inherited Fanconi renotubular syndrome
def: "An instance of Fanconi renotubular syndrome that is inherited." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hereditary Fanconi renotubular syndrome" EXACT [MONDO:patterns/hereditary]
xref: OMIMPS:134600 {source="MONDO:equivalentTo"}
is_a: MONDO:0001083 {source="OMIMPS:134600"} ! Fanconi renotubular syndrome
relationship: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100239
name: inherited hypertrophic pyloric stenosis
def: "An instance of hypertrophic pyloric stenosis that is inherited." [MONDO:patterns/hereditary]
synonym: "hereditary hypertrophic pyloric stenosis" EXACT [MONDO:patterns/hereditary]
xref: MEDGEN:196010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:179010 {source="MONDO:equivalentTo"}
xref: UMLS:C0700639 {source="MONDO:equivalentTo", source="MEDGEN:196010", source="MONDO:MEDGEN"}
is_a: MONDO:0001560 {source="OMIMPS:179010"} ! hypertrophic pyloric stenosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:179010"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100240
name: inherited thrombophilia
def: "An instance of thrombophilia that is inherited." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary hypercoagulable disorder" EXACT [SCTID:439698008]
synonym: "hereditary thrombophilia" EXACT [MONDO:patterns/hereditary, SCTID:439698008]
synonym: "thrombophilia, hereditary" EXACT [MESH:C540694, UMLS:C2584620]
xref: MEDGEN:391721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:188050 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: UMLS:C2584620 {source="MEDGEN:391721", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002305 {source="OMIMPS:188050"} ! thrombophilia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:188050"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100241
name: inherited thrombocytopenia
def: "An instance of thrombocytopenia that is inherited." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "hereditary thrombocytopenia" EXACT [MONDO:patterns/hereditary]
xref: OMIMPS:313900 {source="MONDO:equivalentTo"}
is_a: MONDO:0002049 {source="OMIMPS:313900"} ! thrombocytopenia
intersection_of: MONDO:0002049 ! thrombocytopenia
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:313900"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100242
name: glioma susceptibility
def: "An inherited susceptibility or predisposition to developing glioma." [OMIMPS:137800]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glioma, susceptibility" EXACT [OMIMPS:137800]
synonym: "glioma, susceptibility to" EXACT [OMIMPS:137800]
xref: OMIMPS:137800 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIMPS:137800"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0100342 ! malignant glioma
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:137800"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100243
name: obsolete inherited paroxysmal nocturnal hemoglobinuria
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4232" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100244

[Term]
id: MONDO:0100244
name: paroxysmal nocturnal hemoglobinuria
def: "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." [Orphanet:447]
subset: gard_rare {source="GARD:7337", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1557"}
subset: ordo_disorder {source="Orphanet:447"}
subset: orphanet_rare {source="Orphanet:447"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "acquired paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:0100245]
synonym: "hereditary paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/hereditary]
synonym: "inherited paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:0100243]
synonym: "Marchiafava-Micheli disease" EXACT [Orphanet:447]
synonym: "paroxysmal hemoglobinuria" EXACT [NCIT:C61233]
synonym: "PNH" EXACT ABBREVIATION [Orphanet:447]
xref: DOID:0060284 {source="MONDO:equivalentTo"}
xref: GARD:7337 {source="MONDO:GARD"}
xref: HGNC:8957 {source="GARD:0007337"}
xref: HP:0004818 {source="MONDO:otherHierarchy", source="DOID:0060284"}
xref: ICD10CM:D59.1 {source="DOID:0060284"}
xref: ICD10CM:D59.5 {source="Orphanet:447", source="Orphanet:447/e", source="Orphanet:447/specific", source="DOID:0060284"}
xref: ICD10CM:D59.6 {source="DOID:0060284"}
xref: icd11.foundation:859588467 {source="Orphanet:447", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:10034042 {source="Orphanet:447", source="Orphanet:447/e"}
xref: MEDGEN:7471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D006457 {source="Orphanet:447", source="Orphanet:447/e", source="DOID:0060284"}
xref: NCIT:C61233 {source="MONDO:equivalentTo", source="DOID:0060284"}
xref: NORD:1557 {source="MONDO:NORD"}
xref: OMIMPS:300818 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
xref: Orphanet:447 {source="MONDO:equivalentTo", source="DOID:0060284"}
xref: SCTID:127057004 {source="MONDO:relatedTo", source="DOID:0060284"}
xref: SCTID:1468004 {source="DOID:0060284"}
xref: SCTID:154805009 {source="DOID:0060284"}
xref: SCTID:191223003 {source="DOID:0060284"}
xref: SCTID:191224009 {source="DOID:0060284"}
xref: SCTID:191226006 {source="DOID:0060284"}
xref: SCTID:1963002 {source="MONDO:equivalentTo", source="DOID:0060284"}
xref: SCTID:234377003 {source="DOID:0060284"}
xref: SCTID:267559009 {source="DOID:0060284"}
xref: UMLS:C0024790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7471"}
is_a: MONDO:0003656 {source="DOID:0060284", source="OMIMPS:300818"} ! hemoglobinuria
is_a: MONDO:0003664 {source="OMIMPS:300818", source="Orphanet:447"} ! hemolytic anemia
is_a: MONDO:0015610 {source="Orphanet:447"} ! acquired aplastic anemia
is_a: MONDO:0024321 {source="https://github.com/monarch-initiative/mondo/issues/134", source="https://orcid.org/0000-0002-6601-2165"} ! disorder of GPI anchor biosynthesis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omimps-should-be-inherited.sparql
relationship: excluded_subClassOf MONDO:0017748 {source="Orphanet:447", source="https://github.com/monarch-initiative/mondo/issues/134", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015911"} ! rare
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4232" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria" xsd:anyURI {source="GARD:0007337"}

[Term]
id: MONDO:0100245
name: obsolete acquired paroxysmal nocturnal hemoglobinuria
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4232" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100244

[Term]
id: MONDO:0100246
name: migraine with or without aura, susceptibility to
def: "An inherited susceptibility or predisposition to developing migraines with or without aura." [MONDO:patterns/inherited_susceptibility]
synonym: "migraine with or without aura, susceptibility" EXACT [MONDO:patterns/inherited_susceptibility]
synonym: "migraine with or without aura, susceptibility to" EXACT [MONDO:patterns/inherited_susceptibility]
xref: OMIMPS:157300 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIMPS:157300"} ! inherited disease susceptibility
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:157300"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100247
name: multiple congenital anomalies-hypotonia-seizures syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0080503 {source="MONDO:equivalentTo"}
xref: MEDGEN:1683744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:614080 {source="MONDO:equivalentTo"}
xref: UMLS:C5191419 {source="MEDGEN:1683744", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="OMIMPS:614080"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614080"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100248
name: rapidly progressive primary central nervous system vasculitis
def: "A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions." [PMID:20959356]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "rapidly progressive PCNSV" EXACT [PMID:20959356]
is_a: MONDO:0015374 {source="https://orcid.org/0000-0001-5208-3432"} ! primary central nervous system vasculitis

[Term]
id: MONDO:0100249
name: 46,XX testicular disorder of sex development
def: "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." [Orphanet:393]
subset: gard_rare {source="GARD:399", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:393"}
subset: ordo_malformation_syndrome {source="Orphanet:393"}
subset: orphanet_rare {source="Orphanet:393"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "46, XX gonadal sex reversal" RELATED [GARD:0000399]
synonym: "46,XX testicular differences of sex development" EXACT [NCIT:C127170]
synonym: "46,XX testicular disorder of sex development" EXACT [OMIM:400045]
synonym: "46,XX testicular disorders of Sex development" EXACT [NCIT:C127170]
synonym: "46,XX testicular DSD" EXACT [Orphanet:393]
synonym: "De la Chapelle syndrome" EXACT [Orphanet:393]
synonym: "XX male syndrome" RELATED [GARD:0000399]
synonym: "XX Male, Sry-positive" RELATED [OMIM:400045]
synonym: "XX sex reversal" RELATED [GARD:0000399]
synonym: "XX, male syndrome" EXACT [Orphanet:393]
xref: DOID:0111760 {source="MONDO:equivalentTo"}
xref: GARD:399 {source="MONDO:GARD"}
xref: ICD10CM:Q99.1 {source="Orphanet:393", source="Orphanet:393/attributed", source="Orphanet:393/ntbt"}
xref: MEDGEN:424734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058531 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"}
xref: NCIT:C127170 {source="MONDO:equivalentTo"}
xref: Orphanet:393 {source="OMIM:400045", source="MONDO:equivalentTo"}
xref: UMLS:C2936419 {source="MEDGEN:424734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002145 {source="MESH:D058531/inferred", source="MONDO:Redundant", source="NCIT:C127170", source="OMIM:400045/inferred", source="Orphanet:393/inferred"} ! disorder of sexual differentiation
is_a: MONDO:0017576 {source="PMID:31998049"} ! 46,XX disorder of sex development
relationship: excluded_subClassOf MONDO:0009299 {source="DC-OMIM:400045", source="OMIM:400045", source="https://orcid.org/0000-0001-5208-3432"} ! 46 XX gonadal dysgenesis
relationship: has_characteristic MONDO:0021136 ! rare
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100250
name: 46,XX sex reversal 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "46,XX gonadal dysgenesis, complete, SRY-positive" EXACT [OMIM:400045]
synonym: "46,XX SEX reversal 1" EXACT [MONDO:Lexical, OMIM:400045]
synonym: "46,XX Sex reversal type 1" EXACT [MONDORULE:1, OMIM:400045]
synonym: "46,XX Sex reversal, SRY-positive" EXACT [OMIM:400045]
synonym: "46,XX true hermaphroditism, SRY-positive" RELATED [OMIM:400045]
synonym: "46XX sex reversal 1, X-linked dominant" EXACT [OMIM:400045, OMIM:genemap2]
synonym: "ovotesticular disorder of sex development" BROAD [OMIM:400045]
synonym: "ovotesticular DSD" BROAD [OMIM:400045]
synonym: "SRXX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:400045]
xref: DOID:0111761 {source="MONDO:equivalentTo"}
xref: MEDGEN:411324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C179867 {source="MONDO:equivalentTo"}
xref: OMIM:400045 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"}
xref: UMLS:C2748895 {source="MONDO:equivalentTo", source="MEDGEN:411324", source="MONDO:MEDGEN"}
is_a: MONDO:0100249 {source="OMIM:400045"} ! 46,XX testicular disorder of sex development
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen", source="OMIM:400045"} ! SRY
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100251
name: familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
subset: gard_rare {source="GARD:10879", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:306661"}
subset: rare
synonym: "cortical hyperostosis with hyperphosphatemia" EXACT [DOID:0111063]
synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT [DOID:0111063]
synonym: "familial Teutschlaender disease" EXACT [DOID:0111063]
synonym: "HFTC" EXACT ABBREVIATION [DOID:0111063, MONDO:Lexical, OMIM:211900]
synonym: "HHS" BROAD ABBREVIATION [DOID:0111063]
synonym: "hypercalcemic tumoral calcinosis" EXACT [DOID:0111063, Orphanet:306661]
synonym: "hyperostosis with hyperphosphatemia" EXACT [DOID:0111063, OMIM:211900]
synonym: "hyperphosphatemia hyperostosis" EXACT [DOID:0111063]
synonym: "hyperphosphatemia hyperostosis syndrome" EXACT [DOID:0111063]
synonym: "hyperphosphatemia tumoral calcinosis" EXACT [DOID:0111063]
synonym: "hyperphosphatemic familial tumoral calcinosis" EXACT [NCIT:C131851]
synonym: "lipocalcinogranulomatosis" EXACT [DOID:0111063]
synonym: "morbus Teutschlaender" EXACT [DOID:0111063]
synonym: "PHPTC" EXACT ABBREVIATION [DOID:0111063]
synonym: "primary hyperphosphatemic tumoral calcinosis" EXACT [DOID:0111063]
synonym: "tumoral calcinosis with hyperphosphatemia" EXACT [DOID:0111063]
synonym: "tumoral calcinosis, hyperphosphatemic, familial, 1" RELATED [MONDO:0008897]
xref: DOID:0111063 {source="MONDO:equivalentTo"}
xref: GARD:10879 {source="MONDO:GARD"}
xref: ICD10CM:M11.2 {source="DOID:0111063", source="Orphanet:306661/attributed", source="Orphanet:306661/ntbt", source="Orphanet:306661"}
xref: MEDGEN:360297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C131851 {source="MONDO:equivalentTo"}
xref: Orphanet:306661 {source="DOID:0111063", source="MONDO:equivalentTo", source="OMIM:211900"}
xref: Orphanet:53715 {source="OMIM:211900"}
xref: UMLS:C1876187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:360297"}
is_a: MONDO:0005066 ! metabolic disease
is_a: MONDO:0005093 ! skin disorder
is_a: MONDO:0018891 {source="DC-OMIM:211900", source="Orphanet:306661"} ! familial tumoral calcinosis
is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C131851", source="Orphanet:306661/inferred"} ! inborn errors of metabolism
relationship: has_characteristic MONDO:0021136 ! rare
relationship: has_characteristic MONDO:0021140 ! congenital
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100252
name: tumoral calcinosis, hyperphosphatemic, familial, 1
subset: gard_rare {source="GARD:15146", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "calcinosis, tumoral, with hyperphosphatemia" EXACT [OMIM:211900]
synonym: "HFTC" BROAD ABBREVIATION [OMIM:211900]
synonym: "HFTC1" EXACT ABBREVIATION [OMIM:211900]
synonym: "hyperostosis-hyperphosphatemia syndrome" EXACT [OMIM:211900]
synonym: "Morbus Teutschlaender" EXACT [OMIM:211900]
synonym: "Teutschlaender disease, familial" EXACT [OMIM:211900]
synonym: "tumoral calcinosis, hyperphosphatemic, familial" EXACT [MONDO:Lexical, OMIM:211900]
synonym: "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1" EXACT [OMIM:211900]
synonym: "tumoral calcinosis, Hyperphosphatemic, familial, 1" EXACT [OMIM:211900]
synonym: "tumoral calcinosis, hyperphosphatemic, familial, 1" EXACT CLINGEN_LABEL []
synonym: "tumoral calcinosis, primary Hyperphosphatemic" EXACT [OMIM:211900]
xref: GARD:15146 {source="MONDO:GARD"}
xref: MEDGEN:1642611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:211900 {source="MONDO:equivalentTo"}
xref: UMLS:C4692564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642611"}
is_a: MONDO:0018891 ! familial tumoral calcinosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0100253
name: Roberts-SC phocomelia syndrome
def: "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." [NCIT:C4681, PMID:18411254]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:7387", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3103"}
subset: ordo_malformation_syndrome {source="Orphanet:3103"}
subset: orphanet_rare {source="Orphanet:3103"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Appelt-Gerken-Lenz syndrome" EXACT [GARD:0007387]
synonym: "ESCO2 spectrum disorder" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:20301332]
synonym: "hypomelia hypotrichosis facial hemangioma syndrome" EXACT [DOID:0050536]
synonym: "long bone deficiencies associated with cleft lip-palate" EXACT [DOID:5325, OMIM:268300]
synonym: "phocomelia-pseudothalidomide syndrome" EXACT [NCIT:C4681]
synonym: "pseudothalidomide syndrome" EXACT [NCIT:C4681, Orphanet:3103]
synonym: "RBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:268300]
synonym: "Roberts syndrome" EXACT [MONDO:0009997]
synonym: "Roberts syndrome/SC phocomelia" EXACT [GARD:0007387]
synonym: "Roberts tetraphocomelia syndrome" EXACT [GARD:0007387]
synonym: "Roberts-SC phocomelia syndrome" EXACT CLINGEN_LABEL [NCIT:C4681, Orphanet:3103]
synonym: "SC phocomelia" NARROW [Orphanet:3103]
synonym: "SC phocomelia syndrome" EXACT [MONDO:0100282]
synonym: "SC phocomelia syndrome (mild variant of Roberts syndrome)" NARROW [GARD:0007387]
synonym: "SC pseudothalidomide syndrome" NARROW [DOID:0050536, Orphanet:3103]
synonym: "tetraphocomelia-cleft palate syndrome" EXACT [GARD:0007387]
xref: DOID:0050536 {source="MONDO:equivalentObsolete"}
xref: DOID:5325 {source="MONDO:equivalentTo"}
xref: GARD:7387 {source="MONDO:GARD"}
xref: ICD10CM:Q73.8 {source="Orphanet:3103", source="Orphanet:3103/attributed", source="Orphanet:3103/ntbt"}
xref: MEDGEN:95931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535687 {source="Orphanet:3103", source="DOID:5325", source="MONDO:equivalentTo", source="Orphanet:3103/e"}
xref: NCIT:C126326
xref: NCIT:C4681 {source="DOID:5325", source="MONDO:equivalentTo"}
xref: OMIM:268300 {source="Orphanet:3103", source="MONDO:equivalentTo", source="Orphanet:3103/e"}
xref: OMIM:269000 {source="MONDO:equivalentObsolete", source="DOID:0050536"}
xref: Orphanet:3103 {source="MONDO:equivalentTo", source="OMIM:268300"}
xref: SCTID:48718006 {source="DOID:5325", source="MONDO:equivalentTo"}
xref: UMLS:C0392475 {source="MEDGEN:95931", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="NCIT:C126326", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0006025 {source="DOID:5325", source="MONDO:Redundant", source="OMIM:268300"} ! autosomal recessive disease
is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect
relationship: excluded_subClassOf MONDO:0015335 {source="Orphanet:3103", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Mendelian syndromes with cleft lip/palate
relationship: excluded_subClassOf MONDO:0017432 {source="Orphanet:3103", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with limb reduction defects
relationship: excluded_subClassOf MONDO:0018455 {source="Orphanet:3103", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dysostosis of genetic origin with limb anomaly as a major feature
relationship: excluded_subClassOf MONDO:0020232 {source="Orphanet:3103", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete musculoskeletal disease with cataract
relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:268300", source="Orphanet:3103"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27230 {source="MONDO:mim2gene_medgen", source="OMIM:268300"} ! ESCO2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2553" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4901" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6577" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0100254
name: CACNA1A-related complex neurodevelopmental disorder
def: "A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines." [https://clinicalgenome.org/affiliation/40006/]
subset: inferred_rare
subset: rare
is_a: MONDO:0100516 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder with motor features
intersection_of: MONDO:0100516 ! complex neurodevelopmental disorder with motor features
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5753" xsd:anyURI

[Term]
id: MONDO:0100255
name: adenosine kinase deficiency
def: "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." [https://www.clinicalgenome.org/affiliation/40011/, PMID:30477030, PMID:33309011]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17321", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:289290"}
subset: orphanet_rare {source="Orphanet:289290"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "adenosine kinase deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40011/]
synonym: "ADK deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40011/, PMID:30477030, PMID:33309011]
synonym: "ADK hypermethioninemia" EXACT [DOID:0111038, Orphanet:289290]
synonym: "autosomal recessive intellectual disability 8" EXACT [DOID:0111038]
synonym: "autosomal recessive mental retardation 8" EXACT DEPRECATED [DOID:0111038]
synonym: "hypermethioninemia due to adenosine kinase deficiency" EXACT [OMIM:614300]
synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT [DOID:0111038]
synonym: "hypermethioninemia encephalopathy due to ADK deficiency" EXACT [DOID:0111038, Orphanet:289290]
synonym: "mental retardation, autosomal recessive 8" RELATED DEPRECATED [MONDO:Lexical, OMIM:611094]
synonym: "mental retardation, autosomal recessive 8, formerly" RELATED DEPRECATED [OMIM:614300]
synonym: "mental retardation, autosomal recessive 8; MRT8" RELATED DEPRECATED [OMIM:611094]
synonym: "MRT8" EXACT DEPRECATED [DOID:0111038, MONDO:Lexical, OMIM:611094]
xref: DOID:0111038 {source="MONDO:equivalentTo"}
xref: GARD:17321 {source="MONDO:GARD"}
xref: ICD10CM:E72.1 {source="Orphanet:289290", source="Orphanet:289290/attributed", source="Orphanet:289290/ntbt", source="DOID:0111038"}
xref: MEDGEN:1632232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567015 {source="MONDO:equivalentTo"}
xref: OMIM:611094 {source="MONDO:equivalentObsolete"}
xref: OMIM:614300 {source="MONDO:equivalentTo", source="Orphanet:289290", source="DOID:0111038", source="Orphanet:289290/e"}
xref: Orphanet:289290 {source="OMIM:614300", source="MONDO:equivalentTo", source="DOID:0111038"}
xref: UMLS:C4706555 {source="MONDO:equivalentTo", source="MEDGEN:1632232", source="MONDO:MEDGEN"}
is_a: MONDO:0000351 {source="DC-OMIM:614300", source="DOID:0111038", source="PMID:30477030", source="PMID:33309011", source="https://www.clinicalgenome.org/affiliation/40011/"} ! disorder of methionine catabolism
is_a: MONDO:0019222 {source="Orphanet:289290"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism
is_a: MONDO:0019502 {source="DC-OMIM:611094", source="PMID:30477030", source="PMID:33309011", source="https://www.clinicalgenome.org/affiliation/40011/"} ! autosomal recessive non-syndromic intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/257 {source="MONDO:mim2gene_medgen", source="PMID:30477030", source="PMID:33309011", source="https://www.clinicalgenome.org/affiliation/40011/"} ! ADK
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2587" xsd:anyURI

[Term]
id: MONDO:0100256
name: CTNNA1-related diffuse gastric and lobular breast cancer syndrome
def: "Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern." [https://clinicalgenome.org/affiliation/40023/, https://www.clinicalgenome.org/affiliation/50014/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0000552 {source="https://clinicalgenome.org/affiliation/40023/", source="https://www.clinicalgenome.org/affiliation/50014/"} ! breast lobular carcinoma
is_a: MONDO:0018502 {source="https://clinicalgenome.org/affiliation/40023/", source="https://www.clinicalgenome.org/affiliation/50014/"} ! hereditary gastric cancer
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2509 {source="https://clinicalgenome.org/affiliation/40023/", source="https://www.clinicalgenome.org/affiliation/50014/"} ! CTNNA1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6006" xsd:anyURI

[Term]
id: MONDO:0100257
name: peroxisomal single enzyme/protein defect
def: "Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein." [https://www.clinicalgenome.org/affiliation/40049/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisomal single enzyme/protein defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0019053 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100258
name: phytanoyl-CoA hydroxylase deficiency
def: "Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHYH deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PHYH related disorder of peroxisomal alpha oxidation" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "phytanoyl-CoA hydroxylase deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100277 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of peroxisomal alpha oxidation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8940 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PHYH
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100259
name: peroxisome biogenesis disorder due to PEX1 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX1 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX1 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8850 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100260
name: peroxisome biogenesis disorder due to PEX2 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX2 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX2 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9717 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100261
name: peroxisome biogenesis disorder due to PEX3 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX3 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
synonym: "PEX3 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8858 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100262
name: peroxisome biogenesis disorder due to PEX5 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX5 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX5 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9719 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX5
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100263
name: peroxisome biogenesis disorder due to PEX6 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX6 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX6 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8859 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX6
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100264
name: peroxisome biogenesis disorder due to PEX10 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX10 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
synonym: "PEX10 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8851 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX10
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100265
name: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
def: "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0015776 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! rhizomelic chondrodysplasia punctata
is_a: MONDO:0100322 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-Zellweger spectrum disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100266
name: peroxisome biogenesis disorder due to PEX12 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX12 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX12 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8854 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX12
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100267
name: peroxisome biogenesis disorder due to PEX13 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX13 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX13 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8855 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX13
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100268
name: peroxisome biogenesis disorder due to PEX14 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX14 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX14 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8856 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX14
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100269
name: peroxisome biogenesis disorder due to PEX16 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX16 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX16 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8857 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX16
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100270
name: peroxisome biogenesis disorder due to PEX19 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX19 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX19 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9713 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX19
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100271
name: peroxisome biogenesis disorder due to PEX26 defect
def: "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX26 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX26 related Zellweger spectrum disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22965 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX26
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100272
name: peroxisome biogenesis disorder due to PEX7 defect
def: "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult refsum disease due to PEX7 defect (formerly)" NARROW [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX7 related peroxisome biogenesis disorder" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
synonym: "rhizomelic chondrodysplasia punctata type 1 (formerly)" NARROW [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100322 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! non-Zellweger spectrum disorder
relationship: excluded_subClassOf MONDO:0019234 {source="https://orcid.org/0000-0001-5208-3432", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX7
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100273
name: glyceronephosphate O-acyltransferase deficiency
def: "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glyceronephosphate O-acyltransferase deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "GNPAT deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4416 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! GNPAT
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100274
name: alkylglycerone-phosphate synthase deficiency
def: "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGPS deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
synonym: "alkylglycerone-phosphate synthase deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/327 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! AGPS
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100275
name: fatty acyl-CoA reductase defects
def: "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "FAR1 defect" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
synonym: "fatty acyl-CoA reductase defects" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0017986 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of plasmalogens biosynthesis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26222 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! FAR1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100276
name: disorder of defective peroxisomal and mitochondrial fission
def: "A disease that has its basis in the disruption of peroxisome and mitochondrial fission." [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/basis_in_disruption_of_process]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disorder of defective peroxisomal and mitochondrial fission" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "peroxisome and mitochronrial fission disease" EXACT [MONDO:patterns/basis_in_disruption_of_process]
is_a: MONDO:0019053 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100277
name: disorder of peroxisomal alpha oxidation
def: "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion." [MONDO:patterns/disrupts_process]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disorder of peroxisomal alpha oxidation" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100278
name: alanine glyoxylate aminotransferase deficiency
def: "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene." [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/basis_in_disruption_of_process, PMID:16756494]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AGXT defect" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "AGXT deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "alanine glyoxylate aminotransferase deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0017703 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of glyoxylate metabolism
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/341 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! AGXT
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100279
name: peroxisome biogenesis disorder due to PEX11B defect
def: "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene." [MONDO:patterns/disease_series_by_gene]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "peroxisome biogenesis disorder due to PEX11B defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "PEX11B related peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019609 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! Zellweger spectrum disorders
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8853 ! PEX11B
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100280
name: Waldenstrom macroglobulinemia
subset: gard_rare {source="GARD:7872", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1834"}
subset: ordo_disorder {source="Orphanet:33226"}
subset: orphanet_rare {source="Orphanet:33226"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT [DOID:0060901]
synonym: "macroglobulinemia of Waldenstrom" RELATED [GARD:0007872]
synonym: "Waldenstroem's macroglobulinemia" RELATED [DOID:0060901]
synonym: "Waldenstrom macroglobulinemia" EXACT [MONDO:0007926, NCIT:C80307]
synonym: "Waldenstrom's macroglobulinaemia" RELATED [GARD:0007872]
synonym: "Waldenstrom's macroglobulinemia" EXACT [NCIT:C80307]
synonym: "Waldenstrom's syndrome" RELATED [GARD:0007872]
synonym: "Waldenström Macroglobulinemia" EXACT [NORD:1834]
synonym: "Waldenström macroglobulinemia" EXACT [NCIT:C80307]
xref: DOID:0060901 {source="MONDO:equivalentTo"}
xref: EFO:0009441 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:7872 {source="MONDO:GARD"}
xref: ICD10CM:C88.0 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"}
xref: MedDRA:10047801 {source="Orphanet:33226", source="Orphanet:33226/e"}
xref: MEDGEN:6174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008258 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"}
xref: NCIT:C80307 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: NORD:1834 {source="MONDO:NORD"}
xref: OMIMPS:153600 {source="MONDO:equivalentTo"}
xref: ONCOTREE:WM {source="MONDO:equivalentTo"}
xref: Orphanet:33226 {source="MONDO:equivalentTo", source="DOID:0060901", source="OMIM:153600"}
xref: UMLS:C0024419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6174"}
is_a: MONDO:0000432 {source="DOID:0060901", source="NCIT:C80307", source="ONCOTREE:WM"} ! lymphoplasmacytic lymphoma
is_a: MONDO:0017594 {source="Orphanet:33226"} ! indolent B-cell non-Hodgkin lymphoma
is_a: MONDO:0019052 ! inborn errors of metabolism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:153600"} ! inherited
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7562 {source="MONDO:mim2gene_medgen"} ! MYD88
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100281
name: macroglobulinemia, Waldenstrom, 1
subset: gard_rare {source="MONDO:GARD"}
subset: predisposition
subset: rare
synonym: "macroglobulinemia, Waldenstrom, somatic" EXACT [OMIM:153600]
synonym: "macroglobulinemia, waldenstrom, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:153600]
synonym: "WM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153600]
xref: MEDGEN:320546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:153600 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e"}
xref: UMLS:C1835192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320546"}
is_a: MONDO:0100280 {source="OMIM:153600", source="https://github.com/monarch-initiative/mondo/issues/2562", source="https://orcid.org/0000-0001-5493-2602"} ! Waldenstrom macroglobulinemia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100282
name: obsolete SC phocomelia syndrome
synonym: "Phocomelia Syndrome" EXACT [NORD:1576]
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6577" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100253

[Term]
id: MONDO:0100283
name: overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
def: "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism." [https://clinicalgenome.org/affiliation/40020/, PMID:22729223, PMID:27860216, PMID:30349109]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" EXACT CLINGEN_LABEL []
is_a: MONDO:0019755 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! developmental defect during embryogenesis
is_a: MONDO:0020022 {source="https://clinicalgenome.org/affiliation/40020/", source="https://github.com/monarch-initiative/mondo/issues/2547"} ! central nervous system malformation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100284
name: X-linked intellectual disability
def: "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations." [https://clinicalgenome.org/affiliation/40006/]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "X-linked intellectual disability" EXACT CLINGEN_LABEL []
xref: MEDGEN:211749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1136249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:211749"}
is_a: MONDO:0001071 {source="https://orcid.org/0000-0001-5208-3432"} ! intellectual disability
intersection_of: MONDO:0001071 ! intellectual disability
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2670" xsd:anyURI

[Term]
id: MONDO:0100285
name: extrahepatic biliary atresia
def: "A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow." [OMIM:210500]
subset: gard_rare {source="GARD:886", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "biliary atresia, extrahepatic" EXACT [MONDO:Lexical, OMIM:210500]
synonym: "EHBA" EXACT [http://purl.obolibrary.org/obo/mondo#ABBREVIATION, MONDO:Lexical, OMIM:210500]
xref: GARD:886 {source="MONDO:GARD"}
xref: MEDGEN:1621383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97069 {source="DOID:13608", source="MONDO:equivalentTo"}
xref: OMIM:210500 {source="MONDO:equivalentTo"}
xref: SCTID:82821008 {source="https://orcid.org/0000-0001-5493-2602"}
xref: UMLS:C4520983 {source="MEDGEN:1621383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008867 {source="https://orcid.org/0000-0001-5208-3432"} ! biliary atresia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2663" xsd:anyURI

[Term]
id: MONDO:0100286
name: respiratory syncytial virus bronchiolitis
def: "Bronciolitis caused by infection with respiratory syncytial virus." [MONDO:patterns/infectious_disease_by_agent, PMID:28722988]
synonym: "RSV bronchiolitis" EXACT [PMID:28722988]
xref: MEDGEN:547277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0276340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:547277"}
is_a: MONDO:0002465 {source="PMID:28722988", source="https://github.com/monarch-initiative/mondo/issues/2559", source="https://orcid.org/0000-0001-5208-3432"} ! bronchiolitis
intersection_of: MONDO:0002465 ! bronchiolitis
intersection_of: MONDO:0100332 NCBITaxon:11250 ! disease has primary infectious agent human respiratory syncytial virus
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100287
name: POLE-related polyposis and colorectal cancer syndrome
def: "An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer." [https://clinicalgenome.org/affiliation/40023/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0000147 {source="https://clinicalgenome.org/affiliation/40023/"} ! polyposis
is_a: MONDO:0005575 {source="https://clinicalgenome.org/affiliation/40023/"} ! colorectal cancer
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
is_a: MONDO:0018653 {source="https://clinicalgenome.org/affiliation/40023/"} ! Polymerase proofreading-related adenomatous polyposis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6007" xsd:string
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0100288
name: enhanced S-cone syndrome
def: "An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration." [OMIM:268100]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "enhanced S-cone syndrome" EXACT [MONDO:Lexical, OMIM:268100]
synonym: "ESCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268100]
synonym: "retinoschisis with early nyctalopia" RELATED [Orphanet:53540]
xref: DOID:0090059 {source="MONDO:equivalentTo"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"}
xref: MEDGEN:341446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564835 {source="MONDO:equivalentTo"}
xref: OMIM:268100 {source="Orphanet:53540/e", source="MONDO:equivalentTo", source="DOID:0090059", source="Orphanet:53540"}
xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:directSiblingOf"}
xref: UMLS:C1849394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341446"}
is_a: MONDO:0005283 {source="DOID:0090059", source="MESH:C564835/inferred", source="MONDO:Redundant"} ! retinal disorder
is_a: MONDO:0020248 {source="Orphanet:53540"} ! vitreoretinal degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7974 {source="MONDO:mim2gene_medgen"} ! NR2E3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100289
name: Goldmann-Favre syndrome
def: "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." [Orphanet:53540]
subset: gard_rare {source="GARD:10781", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:53540"}
subset: orphanet_rare {source="Orphanet:53540"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Favre hyaloideoretinal Degeneration" RELATED [OMIM:268100]
synonym: "retinoschisis with early nyctalopia" EXACT [Orphanet:53540]
xref: GARD:10781 {source="MONDO:GARD"}
xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"}
xref: MEDGEN:87387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:equivalentTo"}
xref: SCTID:232065000 {source="MONDO:equivalentTo"}
xref: UMLS:C0339541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87387"}
is_a: MONDO:0005283 {source="DOID:0090059", source="MESH:C564835/inferred", source="MONDO:Redundant", source="Orphanet:53540"} ! retinal disorder
is_a: MONDO:0020248 {source="Orphanet:53540"} ! vitreoretinal degeneration
relationship: excluded_subClassOf MONDO:0020244 {source="Orphanet:53540", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified primitive or secondary maculopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7974 {source="MONDO:mim2gene_medgen"} ! NR2E3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100290
name: colon serrated polyposis
def: "The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon." [NCIT:C96470]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:474430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C96470 {source="MONDO:equivalentTo"}
xref: UMLS:C3272797 {source="MEDGEN:474430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015524 {source="https://github.com/monarch-initiative/mondo/issues/2762", source="https://orcid.org/0000-0001-5493-2602"} ! hyperplastic polyposis syndrome
is_a: MONDO:0021400 {source="NCIT:C96470"} ! polyp of colon
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100291
name: early T cell progenitor acute lymphoblastic leukemia
def: "T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation." [NCIT:C130043]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "early T acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "early T acute lymphoblastic leukemia" EXACT [NCIT:C130043]
synonym: "early T-cell precursor acute lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "early T-cell precursor acute lymphoblastic leukemia" EXACT [NCIT:C130043]
synonym: "early T-cell precursor lymphoblastic leukaemia" EXACT OMO:0003005 []
synonym: "early T-cell precursor lymphoblastic leukemia" EXACT [NCIT:C130043]
synonym: "ETP ALL" EXACT [NCIT:C130043]
synonym: "ETP-ALL" EXACT [NCIT:C130043]
xref: MEDGEN:1385175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C130043 {source="MONDO:equivalentTo"}
xref: UMLS:C4329780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385175"}
is_a: MONDO:0004963 {source="NCIT:C130043"} ! T-cell acute lymphoblastic leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2763" xsd:anyURI

[Term]
id: MONDO:0100292
name: Carey-Fineman-Ziter syndrome 2
def: "Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CFZS2" EXACT ABBREVIATION [OMIM:619941]
xref: MEDGEN:1800921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619941 {source="MONDO:equivalentTo"}
xref: UMLS:C5677012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800921"}
is_a: MONDO:0031415 {source="OMIM:619941"} ! Carey-Fineman-Ziter syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6049" xsd:anyURI

[Term]
id: MONDO:0100293
name: diaphragmatic malformation
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0005728 {source="https://orcid.org/0000-0001-5208-3432"} ! diaphragm disorder
is_a: MONDO:0019755 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI

[Term]
id: MONDO:0100294
name: mitochondrial complex II deficiency, nuclear type 1
def: "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." [https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency]
subset: gard_rare {source="GARD:5053", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3208"}
subset: orphanet_rare {source="Orphanet:3208"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "complex 2 mitochondrial respiratory chain deficiency" RELATED [GARD:0005053]
synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT [DOID:0060537, Orphanet:3208]
synonym: "isolated succinate-coenzyme Q reductase deficiency" EXACT [DOID:0060537, Orphanet:3208]
synonym: "isolated succinate-CoQ reductase deficiency" EXACT [DOID:0060537]
synonym: "isolated succinate-ubiquinone reductase deficiency" EXACT [DOID:0060537, Orphanet:3208]
synonym: "mitochondrial complex 2 deficiency" RELATED [OMIM:252011]
synonym: "mitochondrial complex II deficiency" EXACT [OMIM:252011]
synonym: "mitochondrial complex II deficiency, nuclear type 1" EXACT CLINGEN_LABEL []
synonym: "mitochondrial respiratory chain complex II deficiency" RELATED [GARD:0005053]
synonym: "succinate CoQ reductase deficiency" RELATED [OMIM:252011]
synonym: "succinate dehydrogenase deficiency" RELATED [GARD:0005053]
xref: DOID:0060537 {source="MONDO:equivalentTo"}
xref: GARD:5053 {source="MONDO:GARD"}
xref: ICD10CM:G71.3 {source="Orphanet:3208", source="DOID:0060537", source="Orphanet:3208/attributed", source="Orphanet:3208/ntbt"}
xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1814582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565375 {source="MONDO:equivalentTo", source="DOID:0060537"}
xref: OMIM:252011 {source="MONDO:equivalentTo", source="Orphanet:3208", source="DOID:0060537", source="Orphanet:3208/e"}
xref: Orphanet:3208 {source="MONDO:equivalentTo", source="OMIM:252011", source="DOID:0060537"}
xref: SCTID:124165006 {source="MONDO:equivalentTo"}
xref: UMLS:C5700310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814582"}
is_a: MONDO:0009637 {source="Orphanet:3208"} ! inborn mitochondrial myopathy
is_a: MONDO:0031230 {source="OMIM:252011"} ! mitochondrial complex II deficiency, nuclear type
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency" xsd:anyURI {source="GARD:0005053"}

[Term]
id: MONDO:0100295
name: Alzheimer disease, susceptibility to, mitochondrial
synonym: "Alzheimer disease, susceptibility to, mitochondrial" EXACT [OMIM:502500]
xref: MEDGEN:325148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:502500 {source="MONDO:equivalentTo"}
xref: UMLS:C1838990 {source="MEDGEN:325148", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:502500"} ! inherited disease susceptibility
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5879" xsd:anyURI

[Term]
id: MONDO:0100296
name: Olmsted syndrome 1
def: "Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15818", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Olmsted syndrome" BROAD [Orphanet:659]
synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1" EXACT [MONDO:0019014, OMIM:614594]
xref: DOID:0112013 {source="MONDO:equivalentTo"}
xref: GARD:15818 {source="MONDO:GARD"}
xref: MEDGEN:1778121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614594 {source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075", source="Orphanet:659/btnt"}
xref: UMLS:C5542829 {source="MEDGEN:1778121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031421 {source="OMIM:614594"} ! Olmsted syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18084 {source="MONDO:mim2gene_medgen"} ! TRPV3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100297
name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" RELATED [OMIM:617877]
synonym: "SSFSC" RELATED ABBREVIATION [OMIM:617877]
xref: MEDGEN:1778119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617877 {source="MONDO:equivalentTo"}
xref: UMLS:C5542952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778119"}
is_a: MONDO:0031439 {source="https://orcid.org/0000-0001-5208-3432"} ! short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

[Term]
id: MONDO:0100298
name: abdominal wall malformation
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019755 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI

[Term]
id: MONDO:0100299
name: PAX5-related B lymphopenia and autism spectrum disorder
def: "PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses." [https://orcid.org/0000-0002-7437-8060, PMID:35947077]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hypogammaglobulinemia and autism spectrum disorder" EXACT [https://orcid.org/0000-0002-7437-8060, PMID:35947077]
is_a: MONDO:0002211 {source="https://orcid.org/0000-0002-7437-8060"} ! B cell deficiency
is_a: MONDO:0005258 {source="https://orcid.org/0000-0002-7437-8060"} ! autism spectrum disorder
relationship: RO:0004001 http://identifiers.org/hgnc/8619 {source="https://orcid.org/0000-0002-7437-8060"} ! has material basis in gain of function germline mutation in PAX5
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6082" xsd:anyURI

[Term]
id: MONDO:0100300
name: obsolete hereditary capillary infantile hemangioma
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6302" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0011191

[Term]
id: MONDO:0100301
name: hemangioma, capillary infantile, susceptibility to
def: "An inherited susceptibility or predisposition to developing capillary infantile hemangioma." [MONDO:patterns/inherited_susceptibility]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:864857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602089 {source="MONDO:relatedTo"}
xref: UMLS:C4016420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864857"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0011191 {source="https://orcid.org/0000-0001-5208-3432"} ! capillary infantile hemangioma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100302
name: LADD syndrome 1
def: "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "lacrimoauriculodentodigital syndrome 1" EXACT [OMIM:149730]
synonym: "LADD1" EXACT ABBREVIATION [OMIM:149730]
xref: MEDGEN:1824096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:149730 {source="MONDO:equivalentTo"}
xref: UMLS:C5774323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824096"}
is_a: MONDO:0007872 {source="OMIM:149730"} ! LADD syndrome
intersection_of: MONDO:0007872 ! LADD syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 ! FGFR2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100303
name: ichthyosis, annular epidermolytic 1
def: "Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene." [OMIM:607602]
subset: gard_rare {source="GARD:15417", source="MONDO:GARD"}
subset: rare
xref: GARD:15417 {source="MONDO:GARD"}
xref: OMIM:607602 {source="MONDO:equivalentTo"}
is_a: MONDO:0011870 {source="OMIM:607602"} ! annular epidermolytic ichthyosis
intersection_of: MONDO:0011870 ! annular epidermolytic ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6413 ! KRT10
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100304
name: disorder of bile acid aminotransferase
def: "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase." [MONDO:patterns/inborn_metabolic_disrupts]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disorder of bile acid aminotransferase" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100305
name: bile acid CoA:amino acid N-acyltransferase deficiency
def: "Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene." [MONDO:patterns/disease_series_by_gene, PMID:16756494]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BAAT deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "bile acid CoA:amino acid N-acyltransferase deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100304 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of bile acid aminotransferase
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/932 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! BAAT
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100306
name: disorder of defective peroxisome oxidative status
def: "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation." [MONDO:patterns/disrupts_process]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disorder of defective peroxisome oxidative status" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100307
name: adult Refsum disease due to PEX7 defect
def: "An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene." [https://www.clinicalgenome.org/affiliation/40049/, PMID:12522768]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adult Refsum disease due to PEX7 defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100272 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder due to PEX7 defect
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8860 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! PEX7
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100308
name: atactic disorder
def: "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." [ISBN-13:978-1-259-64403-0]
subset: otar {source="MONDO:OTAR"}
synonym: "ataxia" RELATED [PMID:32965955]
synonym: "ataxic disorder" EXACT [ISBN-13:978-1-259-64403-0, PMID:32965955]
is_a: MONDO:0005071 {source="https://github.com/monarch-initiative/mondo/issues/3066", source="https://orcid.org/0000-0002-0736-9199"} ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: disease_has_major_feature HP:0001251 ! Ataxia
relationship: excluded_subClassOf MONDO:0002602 {source="ISBN-13:978-1-259-64403-0", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100309
name: hereditary ataxia
def: "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: disease_grouping
subset: gard_rare {source="GARD:20286", source="MONDO:GARD"}
subset: mondo_rare {source="PMID:24603320"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_group_of_disorders {source="Orphanet:183518"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "rare hereditary ataxia" EXACT [MONDO:0015956, Orphanet:183518]
synonym: "SCA" RELATED ABBREVIATION [GARD:0010748]
xref: DOID:0050951 {source="MONDO:equivalentTo"}
xref: EFO:0009671 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:20286 {source="MONDO:GARD"}
xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: ICD10CM:G11 {source="MONDO:equivalentTo"}
xref: MEDGEN:2478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531684 {source="MONDO:equivalentTo"}
xref: Orphanet:183518 {source="MONDO:equivalentTo"}
xref: SCTID:763597000 {source="MONDO:equivalentTo"}
xref: UMLS:C0004138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2478"}
is_a: MONDO:0100308 {source="https://orcid.org/0000-0002-0736-9199"} ! atactic disorder
intersection_of: MONDO:0100308 ! atactic disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: disease_has_major_feature HP:0001251 {source="https://orcid.org/0000-0001-5208-3432"} ! Ataxia
relationship: excluded_subClassOf MONDO:0000437 {source="Orphanet:183518", source="https://orcid.org/0000-0001-5208-3432"} ! cerebellar ataxia
relationship: has_characteristic MONDO:0021136 {source="https://www.karger.com/Article/FullText/358801"} ! rare
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia" xsd:anyURI {source="GARD:0006614"}

[Term]
id: MONDO:0100310
name: hereditary cerebellar ataxia
def: "Cerebellar ataxia that is transmitted from parent to child." [NCIT:C140268]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "cerebellar hereditary ataxia" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "hereditary cerebellar ataxia" EXACT [NCIT:C140268]
xref: MEDGEN:78726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C140268 {source="MONDO:equivalentTo"}
xref: UMLS:C0270749 {source="MEDGEN:78726", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000437 {source="NCIT:C140268"} ! cerebellar ataxia
intersection_of: MONDO:0000437 ! cerebellar ataxia
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100311
name: sensory ataxia
def: "Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure, PMID:32965955]
xref: MEDGEN:66020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0240991 {source="MEDGEN:66020", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100308 {source="PMID:32965955"} ! atactic disorder
intersection_of: MONDO:0100308 ! atactic disorder
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0001032 ! sensory system
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100312
name: vestibular ataxia
def: "Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction." [MONDO:patterns/disease_by_dysfunctional_structure, PMID:32965955]
xref: MEDGEN:863489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4015052 {source="MEDGEN:863489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100308 {source="PMID:32965955"} ! atactic disorder
intersection_of: MONDO:0100308 ! atactic disorder
intersection_of: disease_has_basis_in_dysfunction_of UBERON:0004681 ! vestibular system
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100313
name: focal segmental glomerulosclerosis
def: "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure." [NCIT:C37308]
subset: gard_rare {source="GARD:6517", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FGS" EXACT ABBREVIATION [DOID:1312]
synonym: "FGS (focal glomerular sclerosis)" EXACT [DOID:1312]
synonym: "focal glomerular sclerosis" EXACT [DOID:1312]
synonym: "focal glomerulosclerosis" EXACT [DOID:1312]
synonym: "FSGS" EXACT ABBREVIATION [DOID:1312]
synonym: "FSGS - focal segmental glomerulosclerosis" EXACT [NCIT:C37308]
xref: DOID:1312 {source="EFO:0004236", source="MONDO:equivalentTo"}
xref: EFO:0004236 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:6517 {source="MONDO:GARD"}
xref: ICD9:582.1 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:4904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005923 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312"}
xref: NCIT:C37308 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312"}
xref: SCTID:236403004 {source="EFO:0004236", source="MONDO:equivalentTo", source="DOID:1312"}
xref: SCTID:25821008 {source="DOID:1312"}
xref: UMLS:C0017668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4904"}
is_a: MONDO:0000490 {source="DOID:1312"} ! glomerulosclerosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100314
name: GYG1-related disorder of glycogen metabolism
def: "Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene." [https://clinicalgenome.org/affiliation/40097]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0002412 {source="https://clinicalgenome.org/affiliation/40097"} ! disorder of glycogen metabolism
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4699 {source="https://clinicalgenome.org/affiliation/40097/"} ! GYG1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6130" xsd:anyURI

[Term]
id: MONDO:0100315
name: isolated adrenal insufficiency
def: "An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age." [https://www.clinicalgenome.org/affiliation/40049/, PMID:20301491]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "isolated adrenal insufficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0018544 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! adrenoleukodystrophy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100316
name: long QT syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: prototype_pattern
subset: rare
synonym: "long QT syndrome 1" EXACT CLINGEN_LABEL [MONDO:0008646, MONDO:Lexical, OMIM:192500]
synonym: "long QT syndrome 1, acquired, susceptibility to" RELATED [OMIM:192500]
synonym: "long QT syndrome 1/2, digenic" RELATED [OMIM:192500]
synonym: "long QT syndrome type 1" EXACT [DOID:0110644, MONDORULE:1, OMIM:192500]
synonym: "LQT1" EXACT ABBREVIATION [DOID:0110644, MONDO:Lexical, OMIM:192500]
synonym: "ventricular fibrillation with prolonged QT interval" EXACT [DOID:0110644, OMIM:192500]
xref: DOID:0110644 {source="MONDO:equivalentTo"}
xref: ICD10CM:I45.8 {source="DOID:0110644", source="Orphanet:101016/attributed", source="Orphanet:101016/ntbt", source="Orphanet:101016"}
xref: MedDRA:10039211 {source="Orphanet:101016", source="Orphanet:101016/e"}
xref: MEDGEN:1641146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D029597 {source="Orphanet:101016", source="Orphanet:101016/e"}
xref: NCIT:C85049 {source="MONDO:equivalentTo"}
xref: OMIM:192500 {source="DOID:0110644", source="Orphanet:101016", source="MONDO:equivalentTo", source="Orphanet:101016/e"}
xref: SCTID:20852007 {source="MONDO:equivalentTo"}
xref: UMLS:C4551647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641146"}
is_a: MONDO:0019171 {source="OMIM:192500", source="Orphanet:101016"} ! familial long QT syndrome
relationship: excluded_subClassOf MONDO:0002442 {source="DOID:0110644", source="NCIT:C85049", source="OMIM:192500", source="https://orcid.org/0000-0001-5208-3432"} ! long QT syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6294 {source="MONDO:mim2gene_medgen"} ! KCNQ1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100317
name: deficiency of adenosine deaminase 2
def: "Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene." [PMID:31945408, PMID:32638197, PMID:32845415, PMID:35095905, PMID:35774100]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:927526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4289994 {source="MEDGEN:927526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://clinicalgenome.org/affiliation/40080/"} ! hereditary disease
is_a: MONDO:0957408 {source="PMID:37161741"} ! type 1 interferonopathy of childhood
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1839 {source="https://clinicalgenome.org/affiliation/40080/"} ! ADA2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6166" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0100318
name: obsolete SARS-CoV-2-related disease
def: "OBSOLETE. A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease." [https://www.cdc.gov/coronavirus/2019-ncov/hcp/clinical-care/late-sequelae.html]
comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. Term to consider: COVID-19-MONDO:0100096 or 'post-COVID-19 disorder' (MONDO:0100320)
subset: disease_grouping
synonym: "COVID-19-related disease" BROAD [https://orcid.org/0000-0001-5208-3432]
xref: ICD10CM:U00-U85 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5899" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0100319
name: COVID-19–associated multisystem inflammatory syndrome in adults
def: "A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia)." [PMID:33031361]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MIS-A" EXACT ABBREVIATION [PMID:33031361]
is_a: MONDO:0035375 {source="https://orcid.org/0000-0001-5208-3432"} ! multisystem inflammatory syndrome in children and adults
relationship: has_characteristic HP:0003581 {source="PMID:33031361", source="https://github.com/monarch-initiative/mondo/issues/2896"} ! Adult onset
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100320
name: post-COVID-19 disorder
def: "A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-4142-7153, PMID:32201335]
intersection_of: MONDO:0700096 ! human disease
intersection_of: disease_arises_from_feature MONDO:0100096 ! COVID-19
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100321
name: obsolete viral disease or post-viral disorder
def: "OBSOLETE. A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself." [https://orcid.org/0000-0001-5208-3432]
comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. Term to consider: post-viral disorder-MONDO:0021674
subset: disease_grouping
synonym: "viral infectious disease or sequela" EXACT [https://github.com/monarch-initiative/mondo/issues/2950, https://orcid.org/0000-0001-5208-3432]
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5861" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0100322
name: non-Zellweger spectrum disorder
def: "A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7." [https://clinicalgenome.org/affiliation/40049/, https://orcid.org/0000-0002-2796-282X]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "non-Zellweger spectrum disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0019234 {source="https://clinicalgenome.org/affiliation/40049/"} ! peroxisome biogenesis disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100323
name: inherited pseudohypoaldosteronism
def: "A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology." [https://orcid.org/0000-0002-0736-9199]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "hereditary pseudohypoaldosteronism" EXACT [https://orcid.org/0000-0002-0736-9199]
is_a: MONDO:0018638 {source="https://orcid.org/0000-0002-0736-9199"} ! pseudohypoaldosteronism
is_a: MONDO:0100191 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited kidney disorder
intersection_of: MONDO:0018638 ! pseudohypoaldosteronism
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100324
name: primary focal segmental glomerulosclerosis
def: "A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria." [https://orcid.org/0000-0002-0736-9199, PMID:30335305]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:313617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1709661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313617"}
is_a: MONDO:0100313 {source="PMID:30335305", source="https://orcid.org/0000-0002-0736-9199"} ! focal segmental glomerulosclerosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100325
name: odontochondrodysplasia 1
def: "A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." [https://orcid.org/0000-0001-5208-3432, Orphanet:166272]
subset: gard_rare {source="GARD:8717", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:166272"}
subset: ordo_malformation_syndrome {source="Orphanet:166272"}
subset: orphanet_rare {source="Orphanet:166272"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome" EXACT [Orphanet:166272]
synonym: "Goldblatt chondrodysplasia" EXACT [Orphanet:166272]
synonym: "Goldblatt syndrome" EXACT [OMIM:184260, Orphanet:166272]
synonym: "ODCD" EXACT ABBREVIATION [Orphanet:166272]
synonym: "odontochondrodysplasia" BROAD [OMIM:184260]
synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" RELATED [OMIM:184260]
xref: GARD:8717 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:166272/attributed", source="Orphanet:166272/ntbt", source="Orphanet:166272"}
xref: MEDGEN:1784281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:184260 {source="Orphanet:166272/e", source="MONDO:equivalentTo", source="Orphanet:166272"}
xref: Orphanet:166272 {source="MONDO:equivalentTo", source="OMIM:184260"}
xref: SCTID:717823001 {source="MONDO:equivalentTo"}
xref: UMLS:C5542277 {source="MEDGEN:1784281", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="Orphanet:166272", source="PMID:31633310"} ! spondylometaphyseal dysplasia
is_a: MONDO:0031169 {source="OMIM:184260"} ! odontochondrodysplasia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0100326
name: Glanzmann thrombasthenia
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2478", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1186"}
subset: ordo_disorder {source="Orphanet:849"}
subset: orphanet_rare {source="Orphanet:849"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Glanzmann thrombasthenia" EXACT CLINGEN_LABEL []
xref: GARD:2478 {source="MONDO:GARD"}
xref: MEDGEN:52736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NORD:1186 {source="MONDO:NORD"}
xref: OMIMPS:273800 {source="MONDO:equivalentTo"}
xref: Orphanet:849 {source="MONDO:equivalentTo"}
xref: UMLS:C0040015 {source="MONDO:equivalentTo", source="MEDGEN:52736", source="MONDO:MEDGEN"}
is_a: MONDO:0000009 {source="DC-OMIM:273800", source="DOID:2219", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:273800"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:273800"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100327
name: hypercholanemia, familial
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial hypercholanemia" EXACT [MONDO:0011905]
synonym: "hypercholanemia, familial" EXACT [MONDO:Lexical, OMIM:607748]
xref: MEDGEN:334689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:607748 {source="MONDO:equivalentTo"}
xref: UMLS:C1843139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334689"}
is_a: MONDO:0019218 {source="OMIMPS:607748"} ! inborn disorder of bile acid synthesis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:607748"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100328
name: microcephaly, epilepsy, and diabetes syndrome
subset: otar {source="MONDO:OTAR"}
xref: MEDGEN:481870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:614231 {source="MONDO:equivalentTo"}
xref: UMLS:C3280240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481870"}
is_a: MONDO:0003847 {source="OMIMPS:614231"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614231"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100329
name: primary viral infectious disease
def: "The initial viral infectious disase that causes illness." [https://medical-dictionary.thefreedictionary.com/primary+infection]
is_a: MONDO:0005108 {source="https://github.com/monarch-initiative/mondo/issues/2950", source="https://orcid.org/0000-0001-5208-3432"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious agent Viruses
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2950" xsd:anyURI

[Term]
id: MONDO:0100330
name: disease arising from reactivation of latent virus
def: "An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase." [https://medical-dictionary.thefreedictionary.com/latent+infection, https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-4142-7153, PMID:21799704]
subset: otar {source="MONDO:OTAR"}
synonym: "latent infection" EXACT [PMID:21799704]
is_a: MONDO:0005108 {source="https://github.com/monarch-initiative/mondo/issues/2950", source="https://orcid.org/0000-0001-5208-3432"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100333 NCBITaxon:10239 ! disease caused by reactivation of latent infectious agent Viruses
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2950" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3251" xsd:anyURI

[Term]
id: MONDO:0100331
name: nerve agent poisoning
def: "A poisoning that is caused by exposure to a nerve agent or gas." [MONDO:patterns/patterns/poisoning]
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0100334
name: obsolete viral infectious disease or sequela
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/3118#issuecomment-871858054" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100321

[Term]
id: MONDO:0100335
name: local anesthetic poisoning
def: "A poisoning that is caused by exposure to a local anesthetic." [MONDO:patterns/patterns/poisoning]
synonym: "local anesthetic poisoning" EXACT [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0100336
name: obsolete infectious disease or post-infectious disorder
def: "OBSOLETE. A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself." [https://orcid.org/0000-0001-5208-3432]
comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. Term to consider: post-infectious immune dysfunction disease.
subset: disease_grouping
subset: harrisons_view
synonym: "infectious disease or sequela" EXACT [https://github.com/monarch-initiative/mondo/pull/3118#issuecomment-871858054, https://orcid.org/0000-0001-5208-3432]
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5861" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0100337
name: SEC61A1 deficiency
def: "Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia." [https://www.clinicalgenome.org/affiliation/40080/, PMID:31488840]
comment: The term autosomal dominant tubulointerstitial kidney disease (ADTKD), is recommended to be used instead of familial juvenile hyperurecemic nephropathy.
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "SEC61A1 deficiency" EXACT CLINGEN_LABEL []
is_a: MONDO:0003847 {source="https://github.com/monarch-initiative/mondo/issues/2945", source="https://www.clinicalgenome.org/affiliation/40080/"} ! hereditary disease
intersection_of: MONDO:0000001 ! disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 ! SEC61A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 {source="https://www.clinicalgenome.org/affiliation/40080/"} ! SEC61A1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100338
name: urinary tract infection
subset: otar {source="MONDO:OTAR"}
synonym: "urinary tract infection (disease)" EXACT [https://orcid.org/0000-0002-6601-2165]
xref: DOID:0080784 {source="MONDO:equivalentTo"}
xref: EFO:0003103 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: MEDGEN:52943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014552 {source="MONDO:equivalentTo"}
xref: UMLS:C0042029 {source="MEDGEN:52943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_location UBERON:0001008 ! renal system
property_value: IAO:0000589 "urinary tract infection (disease)" xsd:string

[Term]
id: MONDO:0100339
name: Friedreich ataxia
def: "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty." [GARD:0006468]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:6468", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:818"}
subset: ordo_disorder {source="Orphanet:95"}
subset: orphanet_rare {source="Orphanet:95"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FA" EXACT ABBREVIATION [OMIM:229300, Orphanet:95]
synonym: "FRDA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:229300, Orphanet:95]
synonym: "Friedreich ataxia" EXACT CLINGEN_LABEL [MONDO:0009245]
synonym: "Friedreich ataxia with retained reflexes" RELATED [OMIM:229300]
synonym: "Friedreich's Ataxia" EXACT [NORD:818]
synonym: "Friedreich's ataxia" EXACT [DOID:12705, ICD9CM:334.0]
synonym: "Friedreich's tabes" EXACT [DOID:12705]
synonym: "hereditary spinal ataxia" RELATED [GARD:0006468]
synonym: "hereditary spinal sclerosis" RELATED [GARD:0006468]
synonym: "spinocerebellar ataxia, Friedreich" RELATED [GARD:0006468]
xref: DOID:12705 {source="MONDO:equivalentTo"}
xref: GARD:6468 {source="MONDO:GARD"}
xref: ICD10CM:G11.1 {source="Orphanet:95/ntbt", source="Orphanet:95/inclusion", source="Orphanet:95"}
xref: ICD9:334.0 {source="MONDO:equivalentTo", source="DOID:12705", source="MONDO:i2s"}
xref: MedDRA:10017374 {source="Orphanet:95/e", source="Orphanet:95"}
xref: MEDGEN:5276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005621 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"}
xref: NCIT:C84718 {source="MONDO:equivalentTo", source="DOID:12705"}
xref: NORD:818 {source="MONDO:NORD"}
xref: Orphanet:95 {source="OMIM:229300", source="MONDO:equivalentTo"}
xref: SCTID:10394003 {source="MONDO:equivalentTo", source="DOID:12705"}
xref: SCTID:155011003 {source="DOID:12705"}
xref: UMLS:C0016719 {source="MEDGEN:5276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020046 {source="Orphanet:95"} ! autosomal recessive degenerative and progressive cerebellar ataxia
relationship: excluded_subClassOf MONDO:0005045 {source="https://orcid.org/0000-0001-5208-3432"} ! hypertrophic cardiomyopathy
relationship: excluded_subClassOf MONDO:0005267 {source="https://orcid.org/0000-0001-5208-3432"} ! heart disorder
relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020264-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia" xsd:anyURI {source="GARD:0006468"}

[Term]
id: MONDO:0100340
name: Friedreich ataxia 1
def: "Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene." [OMIM:229300]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "FRDA1" EXACT [OMIM:229300]
synonym: "Friedreich ataxia" BROAD [OMIM:229300, OMIM:genemap2]
synonym: "Friedreich ataxia 1" EXACT CLINGEN_LABEL [DOID:12705, MONDO:Lexical, OMIM:229300]
synonym: "Friedreich ataxia type 1" EXACT [MONDORULE:1, OMIM:229300]
xref: DOID:0111218 {source="MONDO:equivalentTo"}
xref: MEDGEN:383962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565561 {source="MONDO:equivalentTo"}
xref: OMIM:229300 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"}
xref: UMLS:C1856689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383962"}
is_a: MONDO:0100339 {source="OMIM:229300", source="https://github.com/monarch-initiative/mondo/issues/2807", source="https://orcid.org/0000-0001-5493-2602"} ! Friedreich ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3951 {source="OMIM:229300"} ! FXN
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100341
name: fire ant poisoning
def: "A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species." [https://orcid.org/0000-0001-7151-1615, PMID:29261949]
synonym: "fire ant allergy" RELATED [https://orcid.org/0000-0001-7151-1615]
synonym: "fire ant bite" RELATED [https://orcid.org/0000-0001-7151-1615]
synonym: "fire ant sting" RELATED [https://orcid.org/0000-0001-7151-1615]
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0100342
name: malignant glioma
def: "A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma." [NCIT:C4822]
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glial cell tumor" EXACT [DOID:3070]
synonym: "glial cell tumour" EXACT OMO:0003005 []
synonym: "glioma" BROAD [Orphanet:182067]
synonym: "glioma, malignant" EXACT [DOID:3070, MONDO:patterns/malignant, NCIT:C4822]
synonym: "high grade glioma" EXACT [NCIT:C4822]
synonym: "high-grade glioma" EXACT [NCIT:C4822]
synonym: "malignant glial neoplasm" EXACT [NCIT:C4822]
synonym: "malignant glial tumor" EXACT [NCIT:C4822]
synonym: "malignant glial tumour" EXACT OMO:0003005 []
synonym: "malignant glioma" EXACT [NCIT:C4822]
synonym: "malignant neuroglial neoplasm" EXACT [NCIT:C4822]
synonym: "malignant neuroglial tumor" EXACT [DOID:3070, NCIT:C4822]
synonym: "malignant neuroglial tumour" EXACT OMO:0003005 []
synonym: "neuroglial tumor" BROAD [DOID:3070, NCIT:C3059]
synonym: "neuroglial tumour" BROAD OMO:0003005 []
xref: DOID:3070 {source="MONDO:equivalentTo"}
xref: ICDO:9380/3 {source="NCIT:C4822"}
xref: MedDRA:10018338 {source="Orphanet:182067", source="Orphanet:182067/e"}
xref: MEDGEN:107826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005910 {source="DOID:3070", source="Orphanet:182067", source="Orphanet:182067/e"}
xref: NCIT:C3059 {source="DOID:3070"}
xref: NCIT:C4822 {source="MONDO:equivalentTo", source="DOID:3070"}
xref: Orphanet:182067 {source="DOID:3070"}
xref: SCTID:115240006 {source="DOID:3070"}
xref: SCTID:189908003 {source="DOID:3070"}
xref: SCTID:189909006 {source="DOID:3070"}
xref: SCTID:189926000 {source="DOID:3070"}
xref: SCTID:269505000 {source="DOID:3070"}
xref: SCTID:393564001 {source="DOID:3070"}
xref: SCTID:416500007 {source="DOID:3070"}
xref: SCTID:74532006 {source="DOID:3070"}
xref: UMLS:C0555198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107826"}
is_a: MONDO:0002714 {source="NCIT:C4822"} ! central nervous system cancer
is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C4822"} ! glioma
is_a: MONDO:0021193 {source="Orphanet:182067"} ! neuroepithelial neoplasm
intersection_of: MONDO:0021042 ! glioma
intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant
relationship: has_characteristic MONDO:0021136 {source="MONDO:0016679"} ! rare
relationship: has_characteristic MONDO:0024497 {source="NCIT:C4822"} ! tumor grade 3 or 4, general grading system
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100343
name: obsolete antenatal Bartter syndrome
def: "OBSOLETE. A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." [Orphanet:93604]
subset: otar {source="MONDO:OTAR"}
synonym: "Bartter syndrome, furosemide type" EXACT [Orphanet:93604]
synonym: "Bartter syndrome, furosemide-amiloride type" EXACT [Orphanet:93604]
synonym: "hyperprostaglandin E syndrome" EXACT [Orphanet:93604]
xref: Orphanet:93604 {source="MONDO:obsoleteEquivalentObsolete"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0100344
name: Bartter disease type 1
subset: gard_rare {source="GARD:22482", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:620217"}
subset: rare
synonym: "antenatal Bartter syndrome" RELATED [Orphanet:93604]
synonym: "antenatal Bartter syndrome type 1" RELATED [GARD:0000830]
synonym: "BARTS1" EXACT ABBREVIATION [DOID:0110142]
synonym: "Bartter disease type 1" EXACT [MONDO:0011127]
synonym: "Bartter syndrome antenatal type 1" RELATED [GARD:0000830]
synonym: "Bartter syndrome caused by mutation in SLC12A1" EXACT [MONDO:design_pattern]
synonym: "Bartter syndrome type 1" EXACT [DOID:0110142, Orphanet:620217]
synonym: "Bartter syndrome type 1 antenatal" EXACT [DOID:0110142]
synonym: "Bartter syndrome, antenatal, type 1" RELATED [OMIM:601678]
synonym: "Bartter syndrome, furosemide type" BROAD [Orphanet:93604]
synonym: "Bartter syndrome, furosemide-amiloride type" BROAD [Orphanet:93604]
synonym: "Bartter syndrome, type 1" EXACT [OMIM:601678, OMIM:genemap2]
synonym: "Bartter syndrome, type 1, antenatal" RELATED [OMIM:601678]
synonym: "hyperprostaglandin E syndrome" BROAD [Orphanet:93604]
synonym: "hyperprostaglandin E syndrome 1" EXACT [DOID:0110142, GARD:0000830, OMIM:601678]
synonym: "hypokalemic alkalosis with hypercalciuria 1 antenatal" EXACT [DOID:0110142]
synonym: "hypokalemic alkalosis with hypercalciuria 1, antenatal" RELATED [OMIM:601678]
synonym: "hypokalemic alkalosis with hypercalciuria antenatal 1" RELATED [GARD:0000830]
synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 1" RELATED [OMIM:601678]
synonym: "SLC12A1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0110142 {source="MONDO:equivalentTo"}
xref: GARD:22482 {source="MONDO:GARD"}
xref: ICD10CM:E26.8 {source="Orphanet:93604/attributed", source="Orphanet:93604/ntbt", source="DOID:0110142", source="Orphanet:93604"}
xref: MEDGEN:355727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537652 {source="MONDO:equivalentTo"}
xref: OMIM:601678 {source="Orphanet:93604/e", source="MONDO:equivalentTo", source="GARD:0000830", source="DOID:0110142", source="Orphanet:93604"}
xref: Orphanet:112 {source="OMIM:601678"}
xref: Orphanet:620217 {source="MONDO:equivalentTo"}
xref: Orphanet:93604 {source="OMIM:601678"}
xref: SCTID:700107006 {source="MONDO:equivalentTo"}
xref: UMLS:C1866495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355727"}
is_a: MONDO:0015231 {source="DC-OMIM:601678", source="DOID:0110142", source="MESH:C537652", source="MONDO:Redundant", source="OMIM:601678", source="Orphanet:93604"} ! Bartter syndrome
intersection_of: MONDO:0015231 ! Bartter syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10910 ! SLC12A1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10910 {source="MONDO:mim2gene_medgen"} ! SLC12A1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0100345
name: lactose intolerance
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "lactase persistence" RELATED [OMIM:223100]
synonym: "lactose intolerance" EXACT [MONDO:ambiguous]
synonym: "lactose intolerance (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0009116]
synonym: "LM - lactose malabsorption" EXACT [DOID:10604]
xref: DOID:10604 {source="MONDO:equivalentTo"}
xref: EFO:1000062 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: HP:0004789 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E73 {source="DOID:10604"}
xref: ICD10CM:E73.9 {source="DOID:10604"}
xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:6001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D007787 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10604"}
xref: NCIT:C3154 {source="MONDO:equivalentTo", source="DOID:10604"}
xref: Orphanet:319681 {source="OMIM:223100"}
xref: SCTID:154736007 {source="DOID:10604"}
xref: SCTID:190750000 {source="DOID:10604"}
xref: SCTID:190757002 {source="DOID:10604"}
xref: SCTID:267425008 {source="MONDO:equivalentTo", source="DOID:10604"}
xref: SCTID:267497007 {source="DOID:10604"}
xref: SCTID:700094005 {source="DOID:10604"}
xref: UMLS:C0022951 {source="MEDGEN:6001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005137 {source="EFO:1000062"} ! nutritional disorder
is_a: MONDO:0019214 {source="DOID:10604", source="NCIT:C3154"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0020598 ! malabsorption syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6949 {source="MONDO:mim2gene_medgen"} ! MCM6
property_value: IAO:0000589 "lactose intolerance (disease)" xsd:string

[Term]
id: MONDO:0100346
name: microcephaly with or without short stature
def: "Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability." [https://www.clinicalgenome.org/affiliation/40020/, PMID:9128935]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0016660 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! autosomal recessive primary microcephaly
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6199" xsd:anyURI

[Term]
id: MONDO:0100347
name: carcinoid syndrome
subset: gard_rare {source="GARD:5994", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:890"}
subset: ordo_clinical_syndrome {source="Orphanet:100093"}
subset: ordo_disorder {source="Orphanet:100093"}
subset: orphanet_rare {source="Orphanet:100093"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "carcinoid syndrome" EXACT [MONDO:0006689, MONDO:0007262]
synonym: "carcinoid tumor syndrome" RELATED [GARD:0005994]
synonym: "carcinoid tumors, intestinal" RELATED [OMIM:114900]
synonym: "carcinoid tumour syndrome" RELATED OMO:0003005 []
synonym: "malignant carcinoid syndrome" EXACT [Orphanet:100093]
xref: DOID:8600 {source="EFO:1000852", source="MONDO:obsolete"}
xref: EFO:1000852 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5994 {source="MONDO:GARD"}
xref: ICD10CM:E34.0 {source="Orphanet:100093/e", source="MONDO:equivalentTo", source="EFO:1000852", source="Orphanet:100093"}
xref: icd11.foundation:111763187 {source="MONDO:equivalentTo", source="Orphanet:100093"}
xref: ICD9:259.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000852"}
xref: MedDRA:10007270 {source="EFO:1000852"}
xref: MEDGEN:6191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D008303 {source="EFO:1000852"}
xref: NCIT:C3215 {source="MONDO:equivalentTo", source="EFO:1000852"}
xref: NORD:890 {source="MONDO:NORD"}
xref: Orphanet:100093 {source="MONDO:equivalentTo", source="OMIM:114900"}
xref: SCTID:35868009 {source="MONDO:equivalentTo", source="EFO:1000852"}
xref: UMLS:C0024586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6191"}
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C3215/inferred"} ! syndromic disease
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: disease_has_feature MONDO:0005369 ! carcinoid tumor
relationship: excluded_subClassOf MONDO:0005369 {source="EFO:1000852", source="https://orcid.org/0000-0001-5208-3432"} ! carcinoid tumor
relationship: excluded_subClassOf MONDO:0015078 {source="Orphanet:100093", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete gastroenteropancreatic neuroendocrine neoplasm
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10683 {source="MONDO:mim2gene_medgen"} ! SDHD
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome" xsd:anyURI {source="GARD:0005994"}

[Term]
id: MONDO:0100348
name: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems." [OMIM:619091]
subset: gard_rare {source="GARD:18534", source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "NEDMILG, AR" EXACT ABBREVIATION [OMIM:619091]
synonym: "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" EXACT [OMIM:619091, OMIM:genemap2]
xref: GARD:18534 {source="MONDO:GARD"}
xref: MEDGEN:1731507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619091 {source="MONDO:equivalentTo"}
xref: UMLS:C5436783 {source="MEDGEN:1731507", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619091"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder
relationship: has_characteristic HP:0000007 {source="OMIM:619091"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7643 {source="OMIM:619091"} ! NARS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5167" xsd:anyURI

[Term]
id: MONDO:0100349
name: COACH syndrome
def: "A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability." [PMID:2929661]
subset: gard_rare {source="GARD:1410", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1454"}
subset: orphanet_rare {source="Orphanet:1454"}
subset: rare
synonym: "cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis" RELATED [GARD:0001410]
synonym: "cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis" EXACT [Orphanet:1454]
synonym: "gentile syndrome" EXACT [Orphanet:1454]
synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT [Orphanet:1454]
synonym: "Joubert syndrome with hepatic defect" EXACT [Orphanet:1454]
synonym: "JS-H" EXACT [Orphanet:1454]
xref: DOID:0111589 {source="MONDO:equivalentTo"}
xref: GARD:1410 {source="MONDO:GARD"}
xref: MEDGEN:387879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536430 {source="MONDO:equivalentTo"}
xref: Orphanet:1454 {source="MONDO:equivalentTo"}
xref: SCTID:721847002 {source="MONDO:equivalentTo"}
xref: UMLS:C1857662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387879"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015369 {source="Orphanet:1454"} ! Joubert syndrome and related disorders
is_a: MONDO:0021147 {source="Orphanet:1454"} ! disorder of development or morphogenesis
relationship: excluded_subClassOf MONDO:0015508 {source="Orphanet:1454", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary parenchymatous liver disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4986" xsd:anyURI

[Term]
id: MONDO:0100350
name: neuronopathy, distal hereditary motor, type 5
subset: gard_rare {source="GARD:16955", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:139536"}
subset: orphanet_rare {source="Orphanet:139536"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dHMN5" BROAD [Orphanet:139536]
synonym: "distal hereditary motor neuropathy type V" EXACT [Orphanet:139536]
synonym: "distal HMN V" EXACT [Orphanet:139536]
synonym: "distal spinal muscular atrophy type 5" EXACT [Orphanet:139536]
xref: DOID:0111203 {source="MONDO:equivalentTo"}
xref: GARD:16955 {source="MONDO:GARD"}
xref: MEDGEN:318838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C563443 {source="MONDO:equivalentTo"}
xref: Orphanet:139536 {source="MONDO:equivalentTo"}
xref: UMLS:C1833308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318838"}
is_a: MONDO:0015362 {source="https://orcid.org/0000-0001-5208-3432"} ! neuronopathy, distal hereditary motor, autosomal dominant
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100351
name: POLD1-related polyposis and colorectal cancer syndrome
def: "An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer." [https://clinicalgenome.org/affiliation/40023/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0000147 {source="https://clinicalgenome.org/affiliation/40023/"} ! polyposis
is_a: MONDO:0005575 {source="https://clinicalgenome.org/affiliation/40023/"} ! colorectal cancer
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
is_a: MONDO:0018653 {source="https://clinicalgenome.org/affiliation/40023/"} ! Polymerase proofreading-related adenomatous polyposis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6005" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0100352
name: episodic kinesigenic dyskinesia 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dystonia 10" RELATED [OMIM:128200]
synonym: "dystonia, familial paroxysmal" RELATED [OMIM:128200]
synonym: "DYT-PRRT2" RELATED [GARD:0008721]
synonym: "EKD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:128200]
synonym: "episodic kinesigenic dyskinesia 1" EXACT [MONDO:Lexical, OMIM:128200]
synonym: "episodic kinesigenic dyskinesia caused by mutation in PRRT2" EXACT [MONDO:design_pattern]
synonym: "episodic kinesigenic dyskinesia type 1" EXACT [DOID:0090053, MONDORULE:1, OMIM:128200]
synonym: "paroxysmal kinesigenic choreoathetosis" RELATED [OMIM:128200]
synonym: "paroxysmal kinesigenic dyskinesia" RELATED [OMIM:128200]
synonym: "PRRT2 episodic kinesigenic dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PxMD-PRRT2" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/]
xref: DOID:0090053 {source="MONDO:equivalentTo"}
xref: ICD10CM:G24.8 {source="DOID:0090053", source="Orphanet:98809/attributed", source="Orphanet:98809/ntbt", source="Orphanet:98809"}
xref: ICD9:333.5 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1636366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537180 {source="MONDO:equivalentTo"}
xref: OMIM:128200 {source="DOID:0090053", source="Orphanet:98809/e", source="MONDO:equivalentTo", source="Orphanet:98809"}
xref: Orphanet:98809 {source="DOID:0090053", source="OMIM:128200"}
xref: SCTID:609221008 {source="MONDO:equivalentTo"}
xref: UMLS:C4552000 {source="MEDGEN:1636366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044202 {source="MONDO:Redundant", source="OMIM:128200"} ! episodic kinesigenic dyskinesia
is_a: MONDO:0100556 {source="PMID:33746883", source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! PRRT2-associated paroxysmal movement disorder
intersection_of: MONDO:0044202 ! episodic kinesigenic dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 ! PRRT2
relationship: excluded_subClassOf MONDO:0015427 {source="Orphanet:98809", source="https://orcid.org/0000-0001-5208-3432"} ! paroxysmal dyskinesia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="MONDO:mim2gene_medgen"} ! PRRT2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI

[Term]
id: MONDO:0100353
name: HHV-7 infectious disease
def: "A disease caused by infection with herpesvirus-7." [MONDO:patterns/infectious_disease_by_agent, PMID:28545483]
synonym: "herpesvirus-7 infectious disease" EXACT [PMID:28545483]
synonym: "HHV-7 infection" EXACT ABBREVIATION [PMID:28545483]
is_a: MONDO:0005949 {source="PMID:28545483"} ! roseolovirus infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10372 ! disease has primary infectious agent Human betaherpesvirus 7
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100354
name: megacystis-microcolon-intestinal hypoperistalsis syndrome 1
subset: gard_rare {source="GARD:15195", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2241"}
subset: ordo_malformation_syndrome {source="Orphanet:2241"}
subset: orphanet_rare {source="Orphanet:2241"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Berdon syndrome" EXACT [DOID:0060610, OMIM:249210, Orphanet:2241]
synonym: "megacystis microcolon intestinal hypoperistalsis syndrome" BROAD [GARD:0003442]
synonym: "megacystis, microcolon, hypoperistalsis syndrome" BROAD [NCIT:C98982]
synonym: "megacystis, microcolon, intestinal hypoperistalsis syndrome" BROAD [NCIT:C98982]
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome" BROAD [MONDO:0007960, OMIM:249210]
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" BROAD [DOID:0060610]
synonym: "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" BROAD [Orphanet:2241]
synonym: "MMIH syndrome" BROAD [NCIT:C98982]
synonym: "MMIHS" BROAD ABBREVIATION [Orphanet:2241]
synonym: "visceral myopathy" RELATED EXCLUDE [DOID:0060610]
xref: DOID:0060610 {source="MONDO:equivalentTo"}
xref: GARD:15195 {source="MONDO:GARD"}
xref: ICD10CM:Q43.8 {source="DOID:0060610", source="Orphanet:2241/attributed", source="Orphanet:2241/ntbt", source="Orphanet:2241"}
xref: MEDGEN:1778116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536138 {source="MONDO:equivalentTo", source="DOID:0060610"}
xref: NCIT:C98982 {source="MONDO:equivalentTo"}
xref: OMIM:249210 {source="Orphanet:2241/e", source="MONDO:equivalentTo", source="Orphanet:2241"}
xref: Orphanet:2241 {source="OMIM:249210", source="MONDO:equivalentTo", source="DOID:0060610"}
xref: Orphanet:2604 {source="OMIM:155310"}
xref: SCTID:253781004 {source="MONDO:equivalentTo"}
xref: UMLS:C5542316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778116"}
is_a: MONDO:0025986 {source="OMIM:249210"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome
intersection_of: MONDO:0025986 ! megacystis-microcolon-intestinal hypoperistalsis syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7590 ! MYLK
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015184"} ! rare
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100355
name: classic or non-classic genetic disease presentation
def: "A classic (severe) or non-classic (mild or intermediate) form of a genetic disease." [https://orcid.org/0000-0001-5208-3432, https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0021125 {source="https://orcid.org/0000-0001-5208-3432"} ! disease characteristic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3221" xsd:anyURI

[Term]
id: MONDO:0100356
name: classic presentation
def: "A severe form of a genetic disease." [https://orcid.org/0000-0001-5208-3432, https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100355 {source="https://orcid.org/0000-0001-5208-3432"} ! classic or non-classic genetic disease presentation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3221" xsd:anyURI

[Term]
id: MONDO:0100357
name: non-classic presentation
def: "A mild or intermediate form of a genetic disease." [https://orcid.org/0000-0001-5208-3432, https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100355 {source="https://orcid.org/0000-0001-5208-3432"} ! classic or non-classic genetic disease presentation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3221" xsd:anyURI

[Term]
id: MONDO:0100358
name: ectodermal dysplasia WNT10A related
subset: clingen {source="MONDO:CLINGEN"}
subset: disease_grouping
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ectodermal dysplasia WNT10A related" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40060/]
is_a: MONDO:0019287 {source="https://www.clinicalgenome.org/affiliation/40060/"} ! ectodermal dysplasia syndrome
intersection_of: MONDO:0019287 ! ectodermal dysplasia syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13829 ! WNT10A
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3293" xsd:anyURI

[Term]
id: MONDO:0100359
name: herpes simplex type 1 infectious disease
def: "A disease caused by infection with herpes simplex type 1." [MONDO:patterns/infectious_disease_by_agent]
is_a: MONDO:0004609 {source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10298 ! disease has primary infectious agent Human alphaherpesvirus 1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3348" xsd:anyURI

[Term]
id: MONDO:0100360
name: herpes simplex type 2 infectious disease
def: "A disease caused by infection with herpes simplex type 2." [MONDO:patterns/infectious_disease_by_agent]
is_a: MONDO:0004609 {source="https://orcid.org/0000-0001-5208-3432"} ! herpes simplex infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:10310 ! disease has primary infectious agent Human alphaherpesvirus 2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3348" xsd:anyURI

[Term]
id: MONDO:0100361
name: lip herpes simplex type 1 infectious disorder
def: "Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis)." [MONDO:patterns/location, PMID:31733122]
is_a: MONDO:0043653 {source="https://orcid.org/0000-0001-5208-3432"} ! herpes labialis
intersection_of: MONDO:0100359 ! herpes simplex type 1 infectious disease
intersection_of: disease_has_location UBERON:0001833 ! lip
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3348" xsd:anyURI

[Term]
id: MONDO:0100362
name: lip herpes simplex type 2 infectious disorder
def: "Any herpes simplex type 2 infectious disease that involves the lip." [MONDO:patterns/location]
is_a: MONDO:0043653 {source="https://orcid.org/0000-0001-5208-3432"} ! herpes labialis
intersection_of: MONDO:0100360 ! herpes simplex type 2 infectious disease
intersection_of: disease_has_location UBERON:0001833 ! lip
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3348" xsd:anyURI

[Term]
id: MONDO:0100363
name: genital herpes simplex type 2 infectious disorder
def: "Any herpes simplex type 2 infectious disease that involves the genitals." [MONDO:patterns/location]
is_a: MONDO:0005770 {source="https://orcid.org/0000-0001-5208-3432"} ! genital herpes
intersection_of: MONDO:0100360 ! herpes simplex type 2 infectious disease
intersection_of: disease_has_location UBERON:0000990 ! reproductive system
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3348" xsd:anyURI

[Term]
id: MONDO:0100364
name: genital herpes simplex type 1 infectious disorder
def: "Any herpes simplex type 1 infectious disease that involves the genitals." [MONDO:patterns/location]
is_a: MONDO:0005770 {source="https://orcid.org/0000-0001-5208-3432"} ! genital herpes
intersection_of: MONDO:0100359 ! herpes simplex type 1 infectious disease
intersection_of: disease_has_location UBERON:0000990 ! reproductive system
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3348" xsd:anyURI

[Term]
id: MONDO:0100365
name: mucopolysaccharidosis or mucopolysaccharidosis-like disorder
def: "Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder." [MONDO:patterns/disease-like]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019052 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of metabolism
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3785" xsd:anyURI

[Term]
id: MONDO:0100366
name: occupational disorder
def: "Any disorder that is realized in response to an exposure to occupation." [MONDO:patterns/realized_in_response_to_evironmental_exposure]
xref: MEDGEN:45175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0028797 {source="MEDGEN:45175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="https://orcid.org/0000-0002-0736-9199"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: realized_in_response_to ECTO:0001591 ! exposure to occupation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3061" xsd:anyURI

[Term]
id: MONDO:0100367
name: port-wine nevi-mega cisterna magna-hydrocephalus syndrome
def: "A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979." [Orphanet:2703]
subset: gard_rare {source="GARD:4014", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:2703"}
subset: orphanet_rare {source="Orphanet:2703"}
subset: rare
synonym: "nova syndrome" EXACT [Orphanet:2703]
xref: GARD:4014 {source="MONDO:GARD"}
xref: MEDGEN:1682989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2703 {source="MONDO:equivalentTo"}
xref: UMLS:C5191040 {source="MEDGEN:1682989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="Orphanet:2703"} ! developmental defect during embryogenesis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100368
name: RPE65-related recessive retinopathy
def: "A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amaurosis congenita of Leber 2" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:204100]
synonym: "amaurosis congenita of Leber II" NARROW [DOID:0110016, https://clinicalgenome.org/affiliation/40072/]
synonym: "amaurosis congenita of Leber, type 2" NARROW [GARD:0000636, https://clinicalgenome.org/affiliation/40072/]
synonym: "LCA2" NARROW ABBREVIATION [DOID:0110016, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:204100]
synonym: "Leber congenital amaurosis 2" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "Leber congenital amaurosis caused by mutation in RPE65" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 2" NARROW [DOID:0110016, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:204100]
synonym: "recessive RPE65 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinitis pigmentosa 20" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:613794]
synonym: "retinitis pigmentosa caused by mutation in RPE65" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "RP20" NARROW ABBREVIATION [DOID:0110353, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:613794]
synonym: "RPE65 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RPE65 retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RPE65-related recessive retinopathy" EXACT CLINGEN_LABEL []
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_characteristic HP:0000007 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100369
name: iatrogenic or non-iatrogenic
def: "A iatrogenic or non-iatrogenic form of a disease." [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0021125 {source="https://orcid.org/0000-0001-5208-3432"} ! disease characteristic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100370
name: acute hepatitis B virus infection
def: "A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk." [NCIT:C157781]
synonym: "acute hepatitis B" EXACT [NCIT:C157781]
xref: NCIT:C157781 {source="MONDO:equivalentTo"}
is_a: MONDO:0005344 {source="NCIT:C157781"} ! hepatitis B virus infection
intersection_of: MONDO:0005344 ! hepatitis B virus infection
intersection_of: has_characteristic PATO:0000389 ! acute
relationship: has_characteristic PATO:0000389 ! acute
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100371
name: acute hepatitis C virus infection
def: "A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics." [NCIT:C157782]
synonym: "acute hepatitis C" EXACT [NCIT:C157782]
xref: NCIT:C157782 {source="MONDO:equivalentTo"}
is_a: MONDO:0005231 {source="NCIT:C157782"} ! hepatitis C virus infection
relationship: has_characteristic PATO:0000389 ! acute

[Term]
id: MONDO:0100372
name: disorder of peroxisomal transporter
def: "Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport." [MONDO:patterns/specific_disease_by_disrupted_process, PMID:17055078, PMID:26611709]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disorder of peroxisomal transporter defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0100257 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal single enzyme/protein defect
relationship: disease_disrupts GO:0043574 {source="PMID:17055078", source="PMID:26611709", source="https://www.clinicalgenome.org/affiliation/40049/"} ! peroxisomal transport
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI

[Term]
id: MONDO:0100373
name: acute myeloid leukemia, inv(16)(p13.1;q22)
def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36373]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, inv(16)(p13.1;q22)" EXACT [NCIT:C36373]
synonym: "AML, inv(16)(p13.1;q22.1)" EXACT [NCIT:C36373]
synonym: "AML, inv(16)(p13.1q22)" EXACT [NCIT:C36373]
synonym: "AML, inv(16)(p13.1q22.1)" EXACT [NCIT:C36373]
synonym: "AML, inv(16)(p13;q22)" EXACT [NCIT:C36373]
synonym: "AML, inv(16)(p13q22)" EXACT [NCIT:C36373]
xref: NCIT:C36373 {source="MONDO:otherHierarchy"}
xref: NCIT:C9018 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C36373"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100374
name: acute myeloid leukemia, t(16;16)(p13.1;q22)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C27759]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(16;16)(p13.1;q22)" EXACT [NCIT:C27759]
synonym: "AML, t(16;16)(p13.1;q22.1)" EXACT [NCIT:C27759]
synonym: "AML, t(16;16)(p13.1q22)" EXACT [NCIT:C27759]
synonym: "AML, t(16;16)(p13.1q22.1)" EXACT [NCIT:C27759]
synonym: "AML, t(16;16)(p13;q22)" EXACT [NCIT:C27759]
synonym: "AML, t(16;16)(p13q22)" EXACT [NCIT:C27759]
xref: NCIT:C27759 {source="MONDO:otherHierarchy"}
xref: NCIT:C9019 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C27759"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100375
name: acute myeloid leukemia, t(15;17)(q24;q21)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C27758]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(15;17)(q22;q12)" EXACT [NCIT:C27758]
synonym: "AML, t(15;17)(q22;q21)" EXACT [NCIT:C27758]
synonym: "AML, t(15;17)(q24;q21)" EXACT [NCIT:C27758]
xref: NCIT:C27758 {source="MONDO:otherHierarchy"}
xref: NCIT:C36055 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C27758"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100376
name: acute myeloid leukemia, t(9;11)(p21.3;q23.3)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36370]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(9;11)(p21.3;q23.3)" EXACT [NCIT:C36370]
synonym: "AML, t(9;11)(p22;q23)" EXACT [NCIT:C36370]
xref: NCIT:C36370 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36370"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3583" xsd:anyURI

[Term]
id: MONDO:0100377
name: acute myeloid leukemia, t(10;11)(p12;q23)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C132102]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(10;11)(p12;q23)" EXACT [NCIT:C132102]
xref: NCIT:C132101 {source="MONDO:equivalentTo"}
xref: NCIT:C132102 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C132102"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100378
name: acute myeloid leukemia, t(10;11)(p11.2;q23)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168758]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AML, t(10;11)(p11.2;q23)" EXACT [NCIT:C168758]
xref: NCIT:C168758 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168758"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100379
name: acute myeloid leukemia, t(1;11)(q21;q23)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168759]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AML, t(1;11)(q21;q23)" EXACT [NCIT:C168759]
xref: NCIT:C168759 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168759"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100380
name: acute myeloid leukemia, t(4;11)(q21;q23)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36365]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(4;11)(q21;q23)" EXACT [NCIT:C36365]
synonym: "AML, t(4;11)(q21;q23.3)" EXACT [NCIT:C36365]
xref: NCIT:C36365 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36365"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100381
name: acute myeloid leukemia, t(6;11)(q27;q23)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36610]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(6;11)(q27;q23)" EXACT [NCIT:C36610]
synonym: "AML, t(6;11)(q27;q23.3)" EXACT [NCIT:C36610]
xref: NCIT:C132105 {source="MONDO:equivalentTo"}
xref: NCIT:C36610 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36610"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100382
name: acute myeloid leukemia, t(6;9)(p23;q34.1)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36532]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(6;9)(p22.3;q34.1)" EXACT [NCIT:C36532]
synonym: "AML, t(6;9)(p22;q34)" EXACT [NCIT:C36532]
synonym: "AML, t(6;9)(p23;q34)" EXACT [NCIT:C36532]
synonym: "AML, t(6;9)(p23;q34.1)" EXACT [NCIT:C36532]
xref: DOID:0081080 {source="MONDO:equivalentTo"}
xref: NCIT:C36532 {source="MONDO:otherHierarchy"}
xref: NCIT:C82423 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C36532"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100383
name: acute myeloid leukemia, t(11;19)(q23;p13)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168764]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(11;19)(q23;p13)" EXACT [NCIT:C168764]
xref: NCIT:C168764 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168764"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100384
name: acute myeloid leukemia, t(11;19)(q23;p13.1)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36371]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(11;19)(q23;p13.1)" EXACT [NCIT:C36371]
xref: NCIT:C36371 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36371"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100385
name: acute myeloid leukemia, t(11;19)(q23.3;p13.3)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36372]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(11;19)(q23.3;p13.3)" EXACT [NCIT:C36372]
synonym: "AML, t(11;19)(q23;p13.3)" EXACT [NCIT:C36372]
xref: NCIT:C36372 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36372"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100386
name: acute myeloid leukemia, t(v;11q23.3)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36517]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AML, 11q23.3 Translocation" EXACT [NCIT:C36517]
synonym: "AML, t(11;v)(q23.3;v)" EXACT [NCIT:C36517]
synonym: "AML, t(11;v)(q23;v)" EXACT [NCIT:C36517]
synonym: "AML, t(V;11)(v;q23)" EXACT [NCIT:C36517]
synonym: "AML, t(V;11)(v;q23.3)" EXACT [NCIT:C36517]
synonym: "AML, t(v;11q23.3)" EXACT [NCIT:C36517]
xref: NCIT:C36517 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36517"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100387
name: acute myeloid leukemia, Monosomy 7
def: "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36411]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, Monosomy 7" EXACT [NCIT:C36411]
xref: NCIT:C36411 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36411"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3583" xsd:anyURI

[Term]
id: MONDO:0100388
name: acute myeloid leukemia, Monosomy 5
def: "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36523]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, Monosomy 5" EXACT [NCIT:C36523]
xref: NCIT:C36523 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36523"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100389
name: acute myeloid leukemia, Trisomy 8
def: "Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36396]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, tri8" EXACT [NCIT:C36396]
synonym: "AML, Trisomy 8" EXACT [NCIT:C36396]
xref: NCIT:C162775 {source="MONDO:equivalentTo"}
xref: NCIT:C36396 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36396"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100390
name: acute myeloid leukemia, der12p
def: "Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C173542]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, der(12p)" EXACT [NCIT:C173542]
synonym: "AML, der12p" EXACT [NCIT:C173542]
xref: NCIT:C173542 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C173542"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100391
name: acute myeloid leukemia, t(2;12)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C173543]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(2;12)" EXACT [NCIT:C173543]
xref: NCIT:C173543 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C173543"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100392
name: acute myeloid leukemia, t(11;17)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175582]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(11;17)" EXACT [NCIT:C175582]
xref: NCIT:C175582 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C175582"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100393
name: acute myeloid leukemia, t(8;16)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175583]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(8;16)" EXACT [NCIT:C175583]
xref: NCIT:C175583 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C175583"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100394
name: acute myeloid leukemia, t(1;22)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175584]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(1;22)" EXACT [NCIT:C175584]
xref: NCIT:C175584 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C175584"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100395
name: acute myeloid leukemia, t(5;11)(q35;p15)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C131503]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AML, t(5;11)(q35;p15)" EXACT [NCIT:C131503]
xref: NCIT:C131502 {source="MONDO:equivalentTo"}
xref: NCIT:C131503 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C131503"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100396
name: acute myeloid leukemia, t(7;12)(q36;p13)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C122689]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(7;12)(q36;p13)" EXACT [NCIT:C122689]
xref: NCIT:C122689 {source="MONDO:otherHierarchy"}
xref: NCIT:C122690 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C122689"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100397
name: acute myeloid leukemia, t(9;22)(q34.1;q11.2)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C13271]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(9;22)(q34.1;q11.2)" EXACT [NCIT:C13271]
synonym: "AML, t(9;22)(q34;q11)" EXACT [NCIT:C13271]
synonym: "AML, t(9;22)(q34;q11.2)" EXACT [NCIT:C13271]
xref: NCIT:C13271 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C13271"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100398
name: acute myeloid leukemia, inv(3)(q21.3;q26.2)
def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36407]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, inv(3)(q21.3;q26.2)" EXACT [NCIT:C36407]
synonym: "AML, inv(3)(q21.3q26.2)" EXACT [NCIT:C36407]
synonym: "AML, inv(3)(q21q26.2)" EXACT [NCIT:C36407]
xref: NCIT:C122716 {source="MONDO:equivalentTo"}
xref: NCIT:C36407 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36407"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100399
name: acute myeloid leukemia, t(3;3)(q21.3;q26.2)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36406]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(3;3)(q21.3;q26.2)" EXACT [NCIT:C36406]
synonym: "AML, t(3;3)(q21.3q26.2)" EXACT [NCIT:C36406]
synonym: "AML, t(3;3)(q21;q26.2)" EXACT [NCIT:C36406]
synonym: "AML, t(3;3)(q26;q21)" EXACT [NCIT:C36406]
xref: NCIT:C122717 {source="MONDO:equivalentTo"}
xref: NCIT:C36406 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36406"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100400
name: acute myeloid leukemia, t(3;12)(q23;p12.3)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168766]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(3;12)(q23;p12.3)" EXACT [NCIT:C168766]
xref: NCIT:C168766 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168766"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100401
name: acute myeloid leukemia, del(5q31-q32)
def: "Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168769]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, 5q31-32 Deletion" EXACT [NCIT:C168769]
synonym: "AML, del(5)(q31-q32)" EXACT [NCIT:C168769]
synonym: "AML, del(5)(q31q32)" EXACT [NCIT:C168769]
synonym: "AML, del(5q31-q32)" EXACT [NCIT:C168769]
xref: NCIT:C168769 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168769"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100402
name: acute myeloid leukemia, del(13q14-q21)
def: "Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168770]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, 13q14-q21 Deletion" EXACT [NCIT:C168770]
synonym: "AML, del(13)(q14-q21)" EXACT [NCIT:C168770]
synonym: "AML, del(13)(q14q21)" EXACT [NCIT:C168770]
synonym: "AML, del(13q)(13q14-21)" EXACT [NCIT:C168770]
synonym: "AML, del(13q14-q21)" EXACT [NCIT:C168770]
xref: NCIT:C168770 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168770"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100403
name: acute myeloid leukemia, loss of chromosome 17p
def: "Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36499]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AML, del(17p)" EXACT [NCIT:C36499]
synonym: "AML, loss of chromosome 17p" EXACT [NCIT:C36499]
xref: NCIT:C36499 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36499"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100404
name: acute myeloid leukemia, MLL gene rearrangement
def: "Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C122623]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, KMT2A Gene Rearrangement" EXACT [NCIT:C122623]
synonym: "AML, KMT2A Rearrangement" EXACT [NCIT:C122623]
synonym: "AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement" EXACT [NCIT:C122623]
synonym: "AML, Lysine Methyltransferase 2A Gene Rearrangement" EXACT [NCIT:C122623]
synonym: "AML, Mixed Lineage Leukaemia Gene Rearrangement" EXACT OMO:0003005 []
synonym: "AML, Mixed Lineage Leukemia Gene Rearrangement" EXACT [NCIT:C122623]
synonym: "AML, MLL gene rearrangement" EXACT [NCIT:C122623]
synonym: "AML, MLL Rearrangement" EXACT [NCIT:C122623]
synonym: "AML, Myeloid/Lymphoid Leukaemia Gene Rearrangement" EXACT OMO:0003005 []
synonym: "AML, Myeloid/Lymphoid Leukemia Gene Rearrangement" EXACT [NCIT:C122623]
synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukaemia Gene Rearrangement" EXACT OMO:0003005 []
synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement" EXACT [NCIT:C122623]
synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukaemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT OMO:0003005 []
synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT [NCIT:C122623]
xref: DOID:0081094 {source="MONDO:equivalentTo"}
xref: NCIT:C122623 {source="MONDO:otherHierarchy"}
xref: NCIT:C174129 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C122623"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100405
name: acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive
def: "Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168771]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, Non-KMT2A MLLT10 Rearrangement" EXACT [NCIT:C168771]
synonym: "AML, Non-KMT2A MLLT10 rearrangement positive" EXACT [NCIT:C168771]
synonym: "AML, Non-MLL MLLT10 Rearrangement" EXACT [NCIT:C168771]
synonym: "AML, Non-MLL MLLT10 Rearrangement Positive" EXACT [NCIT:C168771]
xref: NCIT:C168771 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168771"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100406
name: acute myeloid leukemia, inv(16)(p13.3;q24.3)
def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C167195]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, inv(16)(p13.3;q24.3)" EXACT [NCIT:C167195]
synonym: "AML, inv(16)(p13.3q24.3)" EXACT [NCIT:C167195]
synonym: "AML, inv(16)(p13;q24)" EXACT [NCIT:C167195]
synonym: "AML, inv(16)(p13q24)" EXACT [NCIT:C167195]
xref: NCIT:C167195 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C167195"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100407
name: acute myeloid leukemia, t(11;15)(p15;q35)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C131505]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(11;15)(p15;q35)" EXACT [NCIT:C131505]
xref: NCIT:C131504 {source="MONDO:equivalentTo"}
xref: NCIT:C131505 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C131505"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100408
name: acute myeloid leukemia, t(16;21)(q24;q22)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168773]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(16;21)(q24;q22)" EXACT [NCIT:C168773]
xref: NCIT:C168773 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168773"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100409
name: acute myeloid leukemia, t(3;5)(q25;q34)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36415]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "AML, t(3;5)(q25;q34)" EXACT [NCIT:C36415]
xref: DOID:0081092 {source="MONDO:equivalentTo"}
xref: NCIT:C36415 {source="MONDO:otherHierarchy"}
xref: NCIT:C7600 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="NCIT:C36415"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100410
name: acute myeloid leukemia, t(16;21)(p11;q22)
def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36616]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, t(16;21)(p11.2;q22.2)" EXACT [NCIT:C36616]
synonym: "AML, t(16;21)(p11;q22)" EXACT [NCIT:C36616]
xref: NCIT:C36616 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C36616"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100411
name: obsolete acute myeloid leukemia, NPM1 gene mutation
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3583" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0044923

[Term]
id: MONDO:0100412
name: acute myeloid leukemia, monoallelic CEBPA gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168774]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AML, C/EBP-Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774]
synonym: "AML, C/EBPalpha Monoallelic Gene Mutation" EXACT [NCIT:C168774]
synonym: "AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774]
synonym: "AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774]
synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774]
synonym: "AML, CEBP Monoallelic Gene Mutation" EXACT [NCIT:C168774]
synonym: "AML, CEBPA Monoallelic Gene Mutation" EXACT [NCIT:C168774]
synonym: "AML, CEBPA Monoallelic Mutation" EXACT [NCIT:C168774]
synonym: "AML, moCEBPA" EXACT [NCIT:C168774]
synonym: "AML, monoallelic CEBPA gene mutation" EXACT [NCIT:C168774]
xref: NCIT:C168774 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C168774"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100413
name: acute myeloid leukemia, biallelic CEBPA gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C157569]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, biallelic CEBPA gene mutation" EXACT [NCIT:C157569]
synonym: "AML, biCEBPA" EXACT [NCIT:C157569]
synonym: "AML, C/EBP-Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569]
synonym: "AML, C/EBPalpha Biallelic Gene Mutation" EXACT [NCIT:C157569]
synonym: "AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569]
synonym: "AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569]
synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569]
synonym: "AML, CEBP Biallelic Gene Mutation" EXACT [NCIT:C157569]
synonym: "AML, CEBPA Biallelic Gene Mutation" EXACT [NCIT:C157569]
synonym: "AML, CEBPA Biallelic Mutation" EXACT [NCIT:C157569]
xref: DOID:0081090 {source="MONDO:equivalentTo"}
xref: NCIT:C157569 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C157569"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100414
name: acute myeloid leukemia, CEBPA gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C38372]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AML, C/EBP-Alpha Gene Mutation" EXACT [NCIT:C38372]
synonym: "AML, C/EBPalpha Mutation" EXACT [NCIT:C38372]
synonym: "AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation" EXACT [NCIT:C38372]
synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation" EXACT [NCIT:C38372]
synonym: "AML, CEBP Gene Mutation" EXACT [NCIT:C38372]
synonym: "AML, CEBPA gene mutation" EXACT [NCIT:C38372]
synonym: "AML, CEBPA Mutation" EXACT [NCIT:C38372]
xref: NCIT:C151898 {source="MONDO:equivalentTo"}
xref: NCIT:C38372 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C38372"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100415
name: acute myeloid leukemia, FLT3 internal tandem duplication
def: "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C67494]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, Activating FLT3-ITD Gene Mutation" EXACT [NCIT:C67494]
synonym: "AML, Activating FLT3-ITD Mutation" EXACT [NCIT:C67494]
synonym: "AML, FLT3 internal tandem duplication" EXACT [NCIT:C67494]
synonym: "AML, FLT3 ITD" EXACT [NCIT:C67494]
synonym: "AML, FLT3-ITD" EXACT [NCIT:C67494]
synonym: "AML, FLT3-ITD Activating Mutation" EXACT [NCIT:C67494]
synonym: "AML, FLT3-ITD Mutation" EXACT [NCIT:C67494]
synonym: "AML, FLT3/ITD Mutation" EXACT [NCIT:C67494]
xref: NCIT:C126748 {source="MONDO:equivalentTo"}
xref: NCIT:C67494 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C67494"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100416
name: acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C67495]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, FLT3 tyrosine kinase domain point mutation" EXACT [NCIT:C67495]
synonym: "AML, FLT3-TKD Point Mutation" EXACT [NCIT:C67495]
synonym: "AML, FLT3/TKD Point Mutation" EXACT [NCIT:C67495]
xref: NCIT:C67495 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C67495"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100417
name: acute myeloid leukemia, WT1 gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C146726]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, GUD Gene Mutation" EXACT [NCIT:C146726]
synonym: "AML, WAGR Gene Mutation" EXACT [NCIT:C146726]
synonym: "AML, Wilms Tumor 1 Gene Mutation" EXACT [NCIT:C146726]
synonym: "AML, Wilms Tumour 1 Gene Mutation" EXACT OMO:0003005 []
synonym: "AML, WIT-2 Gene Mutation" EXACT [NCIT:C146726]
synonym: "AML, WT1 gene mutation" EXACT [NCIT:C146726]
synonym: "AML, WT1 mutation" EXACT [NCIT:C146726]
synonym: "AML, WT33 Gene Mutation" EXACT [NCIT:C146726]
xref: NCIT:C146726 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C146726"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100418
name: acute myeloid leukemia, KIT exon 17 mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C116396]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, c-KIT Exon 17 Mutation" EXACT [NCIT:C116396]
synonym: "AML, CD117 Exon 17 Mutation" EXACT [NCIT:C116396]
synonym: "AML, KIT exon 17 mutation" EXACT [NCIT:C116396]
synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation" EXACT [NCIT:C116396]
synonym: "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation" EXACT [NCIT:C116396]
xref: NCIT:C116396 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C116396"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100419
name: acute myeloid leukemia, KIT exon 8 mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C128660]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, c-KIT Exon 8 Mutation" EXACT [NCIT:C128660]
synonym: "AML, CD117 Exon 8 Mutation" EXACT [NCIT:C128660]
synonym: "AML, KIT exon 8 mutation" EXACT [NCIT:C128660]
synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation" EXACT [NCIT:C128660]
synonym: "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation" EXACT [NCIT:C128660]
xref: NCIT:C128660 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C128660"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100420
name: acute myeloid leukemia, KIT gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C39712]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, c-KIT Gene Mutation" EXACT [NCIT:C39712]
synonym: "AML, C-KIT Mutation" EXACT [NCIT:C39712]
synonym: "AML, CD117 Gene Mutation" EXACT [NCIT:C39712]
synonym: "AML, CD117 Mutation" EXACT [NCIT:C39712]
synonym: "AML, KIT gene mutation" EXACT [NCIT:C39712]
synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation" EXACT [NCIT:C39712]
synonym: "AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C39712]
xref: NCIT:C39712 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C39712"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100421
name: acute myeloid leukemia, GATA1 gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C82340]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, ERYF1 Gene Mutation" EXACT [NCIT:C82340]
synonym: "AML, GATA Binding Protein 1 Gene Mutation" EXACT [NCIT:C82340]
synonym: "AML, GATA-1 Gene Mutation" EXACT [NCIT:C82340]
synonym: "AML, GATA1 gene mutation" EXACT [NCIT:C82340]
synonym: "AML, GATA1 Mutation" EXACT [NCIT:C82340]
synonym: "AML, GF-1 Gene Mutation" EXACT [NCIT:C82340]
synonym: "AML, GF1 Gene Mutation" EXACT [NCIT:C82340]
synonym: "AML, NF-E1 Gene Mutation" EXACT [NCIT:C82340]
synonym: "AML, NFE1 Gene Mutation" EXACT [NCIT:C82340]
xref: NCIT:C82340 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C82340"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100422
name: acute myeloid leukemia, RUNX1 gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C38362]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, Acute Myeloid Leukaemia 1 Gene Mutation" EXACT OMO:0003005 []
synonym: "AML, Acute Myeloid Leukemia 1 Gene Mutation" EXACT [NCIT:C38362]
synonym: "AML, AML1 Gene Mutation" EXACT [NCIT:C38362]
synonym: "AML, AML1 Mutation" EXACT [NCIT:C38362]
synonym: "AML, AMLCR1 Gene Mutation" EXACT [NCIT:C38362]
synonym: "AML, CBFA2 Gene Mutation" EXACT [NCIT:C38362]
synonym: "AML, CBFalpha2 Mutation" EXACT [NCIT:C38362]
synonym: "AML, Runt-Related Transcription Factor 1 Gene Mutation" EXACT [NCIT:C38362]
synonym: "AML, RUNX1 gene mutation" EXACT [NCIT:C38362]
xref: DOID:0081091 {source="MONDO:equivalentTo"}
xref: NCIT:C129786 {source="MONDO:equivalentTo"}
xref: NCIT:C38362 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C38362"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100423
name: acute myeloid leukemia, PTPN11 gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C82612]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, BPTP3 Gene Mutation" EXACT [NCIT:C82612]
synonym: "AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation" EXACT [NCIT:C82612]
synonym: "AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation" EXACT [NCIT:C82612]
synonym: "AML, PTP-1D Gene Mutation" EXACT [NCIT:C82612]
synonym: "AML, PTP2C Gene Mutation" EXACT [NCIT:C82612]
synonym: "AML, PTPN11 gene mutation" EXACT [NCIT:C82612]
synonym: "AML, SH-PTP2 Gene Mutation" EXACT [NCIT:C82612]
synonym: "AML, SHP-2 Gene Mutation" EXACT [NCIT:C82612]
synonym: "AML, SHP2 Gene Mutation" EXACT [NCIT:C82612]
xref: NCIT:C82612 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C82612"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100424
name: acute myeloid leukemia, NRAS gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C41381]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, N-RAS Gene Mutation" EXACT [NCIT:C41381]
synonym: "AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C41381]
synonym: "AML, NRAS gene mutation" EXACT [NCIT:C41381]
xref: NCIT:C41381 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C41381"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100425
name: acute myeloid leukemia, KRAS gene mutation
def: "Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C41361]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AML, c-K-ras Gene Mutation" EXACT [NCIT:C41361]
synonym: "AML, KRAS Gene Mutation" EXACT [NCIT:C41361]
synonym: "AML, KRAS gene mutation" EXACT [NCIT:C41361]
synonym: "AML, KRAS-2 Gene Mutation" EXACT [NCIT:C41361]
synonym: "AML, KRAS2 Gene Mutation" EXACT [NCIT:C41361]
synonym: "AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C41361]
xref: NCIT:C41361 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018874 {source="NCIT:C41361"} ! acute myeloid leukemia
relationship: has_characteristic PATO:0000389 ! acute
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI

[Term]
id: MONDO:0100426
name: iatrogenic
def: "A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient." [PMID:27407693]
is_a: MONDO:0100369 {source="https://orcid.org/0000-0001-5208-3432"} ! iatrogenic or non-iatrogenic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100427
name: non-iatrogenic
def: "A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient." [PMID:27407693]
is_a: MONDO:0100369 {source="https://orcid.org/0000-0001-5208-3432"} ! iatrogenic or non-iatrogenic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100428
name: progressive bulbar palsy of childhood
def: "A progressive bulbar palsy of childhood that occurs during childhood." [MONDO:patterns/childhood]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Fazio-Londe disease" EXACT [OMIM:211500]
xref: DOID:0080632 {source="MONDO:equivalentTo"}
xref: MEDGEN:41975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:211500 {source="MONDO:equivalentTo"}
xref: Orphanet:56965 {source="MONDO:equivalentObsolete"}
xref: SCTID:230246005 {source="MONDO:equivalentTo"}
xref: UMLS:C0015708 {source="MEDGEN:41975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0008890 {source="https://orcid.org/0000-0001-5493-2602"} ! progressive bulbar palsy
intersection_of: MONDO:0008890 ! progressive bulbar palsy
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16187 {source="OMIM:211500"} ! SLC52A3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/127" xsd:anyURI

[Term]
id: MONDO:0100429
name: intrahepatic cholestasis of pregnancy
def: "A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." [Orphanet:69665]
subset: gard_rare {source="GARD:9804", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:69665"}
subset: orphanet_rare {source="Orphanet:69665"}
subset: rare
synonym: "cholestasis, intrahepatic of pregnancy" RELATED [GARD:0009804]
synonym: "familial intrahepatic cholestasis of pregnancy" RELATED [GARD:0009804]
synonym: "familial recurrent intrahepatic cholestasis of pregnancy" RELATED [GARD:0009804]
synonym: "gravidic intrahepatic cholestasis" EXACT [DOID:0070227, Orphanet:69665]
synonym: "ICP" EXACT ABBREVIATION [DOID:0070227]
synonym: "intrahepatic cholestasis of pregnancy" EXACT [DOID:1852]
synonym: "pregnancy related cholestasis" EXACT [DOID:0070227, GARD:0009804]
synonym: "pregnancy-related cholestasis" EXACT [Orphanet:69665]
synonym: "recurrent intrahepatic cholestasis of pregnancy" EXACT [DOID:0070227, Orphanet:69665]
synonym: "RICP" RELATED ABBREVIATION [GARD:0009804]
xref: DOID:0070227 {source="MONDO:equivalentTo"}
xref: GARD:9804 {source="MONDO:GARD"}
xref: MEDGEN:82788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C535932 {source="MONDO:equivalentTo", source="DOID:0070227"}
xref: Orphanet:69665 {source="MONDO:equivalentTo", source="DOID:0070227"}
xref: UMLS:C0268318 {source="MONDO:equivalentTo", source="MEDGEN:82788", source="MONDO:MEDGEN"}
is_a: MONDO:0019072 {source="Orphanet:69665"} ! intrahepatic cholestasis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3897" xsd:anyURI

[Term]
id: MONDO:0100430
name: fibrotic liver disease
def: "A liver disease characterized by the presence of excessive fibrous connective tissue in the liver." [https://orcid.org/0000-0002-2825-0621, https://orcid.org/0000-0002-4900-7575, PMID:31722201]
synonym: "hepatic fibrosis (disease)" EXACT [PMID:31722201]
synonym: "liver fibrosis (disease)" EXACT [PMID:31722201]
is_a: MONDO:0005154 {source="PMID:31722201"} ! liver disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100431
name: migraine without aura
def: "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." [NCIT:C117004]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "common migraine" EXACT [NCIT:C117004]
xref: DOID:12783 {source="MONDO:equivalentTo"}
xref: MEDGEN:137899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020326 {source="MONDO:equivalentTo"}
xref: NCIT:C117004 {source="MONDO:equivalentTo"}
xref: SCTID:56097005 {source="MONDO:equivalentTo"}
xref: UMLS:C0338480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137899"}
is_a: MONDO:0005277 {source="https://orcid.org/0000-0001-7451-4467"} ! migraine disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3984" xsd:anyURI

[Term]
id: MONDO:0100432
name: FNIP1-associated syndrome
def: "Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome." [PMID:32181500]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome" EXACT [https://orcid.org/0000-0002-7437-8060, PMID:32181500, PMID:32905580]
synonym: "FNIP1 deficiency" EXACT [PMID:32181500, PMID:32905580]
synonym: "immunodeficiency with cardiomyopathy and pre-excitation syndrome" EXACT [PMID:32181500, PMID:32905580]
is_a: MONDO:0021094 {source="PMID:32181500, PMID:32905580"} ! immunodeficiency disease
intersection_of: MONDO:0021094 ! immunodeficiency disease
intersection_of: disease_has_basis_in_disruption_of http://identifiers.org/hgnc/29418 ! FNIP1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4021" xsd:anyURI

[Term]
id: MONDO:0100433
name: ACTB-associated syndromic thrombocytopenia
def: "A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets." [https://orcid.org/0000-0001-6964-7302, PMID:30315159]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACTB-AST" EXACT ABBREVIATION [PMID:30315159]
synonym: "thrombocytopenia 8, with dysmorphic features and developmental delay" EXACT [OMIM:620475]
xref: OMIM:620475 {source="MONDO:equivalentTo"}
is_a: MONDO:0018795 {source="PMID:30315159"} ! syndromic constitutional thrombocytopenia
intersection_of: MONDO:0018795 ! syndromic constitutional thrombocytopenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/132 ! ACTB
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4019" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6597" xsd:anyURI

[Term]
id: MONDO:0100434
name: chronic mountain sickness
def: "A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events." [EFO:0010143]
synonym: "Monge's disease" EXACT [EFO:0010143]
xref: SCTID:241975000 {source="MONDO:equivalentTo"}
is_a: MONDO:0006625 {source="EFO:0010143"} ! altitude sickness
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100435
name: Schwartz-Jampel syndrome type 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "Chondrodystrophic myotonia" RELATED [OMIM:255800]
synonym: "Schwartz-Jampel syndrome 1" RELATED [DOID:0090005]
synonym: "Schwartz-Jampel syndrome type 1" EXACT [DOID:0090005, MONDORULE:1, Orphanet:800]
synonym: "Schwartz-Jampel syndrome, type 1" RELATED [MONDO:Lexical, OMIM:255800]
synonym: "SJA syndrome" EXACT [OMIM:255800]
synonym: "SJS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:255800]
xref: DOID:0090005 {source="MONDO:equivalentTo"}
xref: MEDGEN:1647990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:255800 {source="MONDO:equivalentTo"}
xref: UMLS:C4551479 {source="MEDGEN:1647990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009717 {source="OMIM:255800"} ! Schwartz-Jampel syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5273 {source="OMIM:255800"} ! HSPG2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0100436
name: cataract 2, multiple types
def: "Any cataract in which the cause of the disease is a mutation in the CRYGC gene." [MONDO:pattterns/disease_series_by_gene, OMIM:604307]
synonym: "cataract 2 multiple types" EXACT [DOID:0110235]
synonym: "cataract 2 multiple types with or without microcornea" EXACT [DOID:0110235]
synonym: "cataract 2, multiple types, with or without microcornea" EXACT [OMIM:604307]
synonym: "cataract, Coppock-like" EXACT [OMIM:604307]
synonym: "CTRCT2" EXACT ABBREVIATION [OMIM:604307]
xref: DOID:0110235 {source="MONDO:equivalentTo"}
xref: MEDGEN:1648415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604307 {source="MONDO:equivalentTo", source="DOID:0110235"}
xref: UMLS:C4721890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648415"}
is_a: MONDO:0005129 {source="OMIM:60430"} ! cataract
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3904" xsd:anyURI

[Term]
id: MONDO:0100437
name: RPGR-related retinopathy
def: "A retinopathy caused by a variant in the X-linked gene, RPGR." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "choroidoretinal degeneration with retinal reflex in heterozygous women" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:300029]
synonym: "COD1" NARROW ABBREVIATION [DOID:0111008, https://clinicalgenome.org/affiliation/40072/]
synonym: "cone dystrophy 1, X-linked" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:304020]
synonym: "cone dystrophy X-linked 1" NARROW [GARD:0010652, https://clinicalgenome.org/affiliation/40072/]
synonym: "cone-rod degeneration, X-linked" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:300029]
synonym: "cone-rod dystrophy X-linked 1" NARROW [GARD:0010652, https://clinicalgenome.org/affiliation/40072/]
synonym: "cone-rod dystrophy, X-linked, 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:304020]
synonym: "cone-rod dystrophy, X-linked, type 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:304020]
synonym: "CORDX1" NARROW ABBREVIATION [DOID:0111008, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:304020]
synonym: "macular degeneration, X-linked atrophic" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:300834]
synonym: "retinal ciliopathy due to mutation in the RPGR gene" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinitis pigmentosa 15" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:300029]
synonym: "retinitis pigmentosa 3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:300029]
synonym: "retinitis pigmentosa caused by mutation in RPGR" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "retinitis pigmentosa type 3" NARROW [DOID:0110414, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:300029]
synonym: "RP3" NARROW ABBREVIATION [DOID:0110414, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:300029]
synonym: "RPGR retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RPGR retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/]
synonym: "X-linked cone dystrophy 1" NARROW [DOID:0111008, https://clinicalgenome.org/affiliation/40072/]
synonym: "X-linked cone-rod dystrophy 1" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "X-linked cone-rod dystrophy type 1" NARROW [DOID:0111008, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 ! RPGR
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100438
name: AIPL1-related retinopathy
def: "A retinopathy caused by biallelic variants in the AIPL1 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "AIPL1 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "AIPL1 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/]
synonym: "amaurosis congenita of Leber, type 4" NARROW [GARD:0009662, https://clinicalgenome.org/affiliation/40072/]
synonym: "cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:604393]
synonym: "cone-rod dystrophy, AIPL1-related" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:604393]
synonym: "LCA4" NARROW ABBREVIATION [DOID:0110332, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:604393]
synonym: "Leber congenital amaurosis 4" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:604393]
synonym: "Leber congenital amaurosis caused by mutation in AIPL1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 4" NARROW [DOID:0110332, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:604393]
synonym: "retinitis pigmentosa, juvenile" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:604393]
synonym: "retinitis pigmentosa, juvenile, AIPL1-related" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:604393]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/359 ! AIPL1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100439
name: glycogen storage disease IXa2
def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes." [OMIM:306000]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "GSD IXa2" EXACT [OMIM:306000]
synonym: "GSD9A2" EXACT ABBREVIATION [OMIM:306000]
synonym: "liver glycogenosis, X-linked, type 2" EXACT [OMIM:306000]
xref: MEDGEN:411335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2748941 {source="MONDO:equivalentTo", source="MEDGEN:411335", source="MONDO:MEDGEN"}
is_a: MONDO:0002412 {source="OMIM:306000"} ! disorder of glycogen metabolism
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2128" xsd:anyURI

[Term]
id: MONDO:0100440
name: Asperger syndrome, susceptibility to
def: "An inherited susceptibility or predisposition to developing Asperger sydrome." [MONDO:patterns/inherited_susceptibility]
xref: OMIMPS:608638 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIMPS:608638"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005259 ! Asperger syndrome
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608638"} ! inherited
relationship: predisposes_towards MONDO:0005259 {source="OMIMPS:608638"} ! Asperger syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100441
name: GUCY2D-related dominant retinopathy
def: "A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CACD1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, OMIM:215500]
synonym: "central areolar choroidal dystrophy caused by mutation in GUCY2D" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "choroidal dystrophy, central areolar" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:215500]
synonym: "choroidal dystrophy, central areolar, 1" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:215500]
synonym: "choroidal sclerosis" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:215500]
synonym: "cone-rod dystrophy 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:601777]
synonym: "cone-rod dystrophy caused by mutation in GUCY2D" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "cone-rod dystrophy type 6" NARROW [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:601777]
synonym: "CORD6" NARROW ABBREVIATION [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:601777]
synonym: "dominant GUCY2D retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "GUCY2D central areolar choroidal dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GUCY2D cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RCD2" NARROW ABBREVIATION [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, OMIM:601251, OMIM:601777]
synonym: "retinal cone dystrophy 2" NARROW [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, OMIM:601777]
is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D retinopathy
relationship: has_characteristic HP:0000006 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100442
name: RP2-related retinopathy
def: "A retinopathy caused by variants in the X-linked gene, RP2." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinitis pigmentosa 2" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:312600]
synonym: "retinitis pigmentosa caused by mutation in RP2" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "retinitis pigmentosa type 2" NARROW [DOID:0110415, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:312600]
synonym: "RP2" NARROW ABBREVIATION [DOID:0110415, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:312600]
synonym: "RP2 retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RP2 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10274 {source="https://clinicalgenome.org/affiliation/40072/"} ! RP2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100443
name: RDH5-related retinopathy
def: "A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "fundus albipunctatus" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:136880]
synonym: "pigmentary retinal dystrophy" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, ICD9CM:362.74]
synonym: "RDH5 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinitis punctata albescens" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, OMIM:136880]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9940 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100444
name: RLBP1-related retinopathy
def: "A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Bothnia retinal dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:607475]
synonym: "cone-rod dystrophy caused by mutation in RLBP1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "fundus albipunctatus" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:136880]
synonym: "Newfoundland ROD-cone dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:607476]
synonym: "Newfoundland rod-cone dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:607476]
synonym: "NFRCD" NARROW ABBREVIATION [DOID:0111015, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:607476]
synonym: "pigmentary retinal dystrophy" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, ICD9CM:362.74]
synonym: "retinitis punctata albescens" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, OMIM:136880, Orphanet:52427]
synonym: "RLBP1 cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RLBP1 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "Vasterbotten dystrophy" NARROW [DOID:0050683, https://clinicalgenome.org/affiliation/40072/, OMIM:607475, Orphanet:85128]
synonym: "Västerbotten dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, Orphanet:85128]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100445
name: LCA5-related retinopathy
def: "A retinopathy caused by biallelic variants in the LCA5 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 5" NARROW [GARD:0009983, https://clinicalgenome.org/affiliation/40072/]
synonym: "LCA5" NARROW ABBREVIATION [DOID:0110215, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:604537]
synonym: "LCA5 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA5 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/]
synonym: "LCA5-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "Leber congenital amaurosis 5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:604537]
synonym: "Leber congenital amaurosis caused by mutation in LCA5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 5" NARROW [DOID:0110215, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:604537]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31923 {source="https://clinicalgenome.org/affiliation/40072/"} ! LCA5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0100446
name: CNGB3-related retinopathy
def: "A retinopathy caused by biallelic variants in the CNGB3 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACHM1" NARROW ABBREVIATION [DOID:0110008, https://clinicalgenome.org/affiliation/40072/]
synonym: "ACHM1 (formerly)" NARROW [GARD:0009650, https://clinicalgenome.org/affiliation/40072/]
synonym: "ACHM1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300]
synonym: "ACHM3" NARROW ABBREVIATION [DOID:0110008, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:262300]
synonym: "achromatopsia 3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:262300]
synonym: "achromatopsia caused by mutation in CNGB3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "achromatopsia type 3" NARROW [DOID:0110008, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:262300]
synonym: "achromatopsia with myopia" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300]
synonym: "CNGB3 achromatopsia" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CNGB3 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "Pingelapese blindness" NARROW EXCLUDE [DOID:0110008, https://clinicalgenome.org/affiliation/40072/]
synonym: "RMCH1" NARROW ABBREVIATION [DOID:0110008, https://clinicalgenome.org/affiliation/40072/]
synonym: "RMCH1 (formerly)" NARROW [GARD:0009650, https://clinicalgenome.org/affiliation/40072/]
synonym: "rod monochromacy 1" NARROW [DOID:0110008, https://clinicalgenome.org/affiliation/40072/]
synonym: "Rod monochromacy 1 (formerly)" NARROW [GARD:0009650, https://clinicalgenome.org/affiliation/40072/]
synonym: "rod monochromacy 1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300]
synonym: "rod monochromatism 1" NARROW [DOID:0110008, https://clinicalgenome.org/affiliation/40072/, OMIM:262300]
synonym: "Rod monochromatism 1 (formerly)" NARROW [GARD:0009650, https://clinicalgenome.org/affiliation/40072/]
synonym: "rod monochromatism 1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300]
synonym: "total colorblindness with myopia" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300]
is_a: MONDO:0019119 {source="https://clinicalgenome.org/affiliation/40072/"} ! muscular channelopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2153 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100447
name: ATF6-related retinopathy
def: "A retinopathy caused by biallelic variants in the AFT6 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACHM7" NARROW ABBREVIATION [DOID:0110009, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:616517]
synonym: "achromatopsia 7" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:616517]
synonym: "achromatopsia caused by mutation in ATF6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "achromatopsia type 7" NARROW [DOID:0110009, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:616517]
synonym: "ATF6 achromatopsia" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "ATF6 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/]
synonym: "ATF6-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/791 {source="https://clinicalgenome.org/affiliation/40072/"} ! ATF6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0100448
name: RAB28-related retinopathy
def: "A retinopathy caused by biallelic variants in the RAB28 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cone-rod dystrophy 18" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:615374]
synonym: "cone-rod dystrophy caused by mutation in RAB28" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "cone-rod dystrophy type 18" NARROW [DOID:0111024, https://clinicalgenome.org/affiliation/40072/, MONDORULE:2, OMIM:615374]
synonym: "CORD18" NARROW ABBREVIATION [DOID:0111024, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:615374]
synonym: "RAB28 cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "RAB28 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9768 {source="https://clinicalgenome.org/affiliation/40072/"} ! RAB28
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100449
name: FLVCR1-related retinopathy with or without ataxia
def: "A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ataxia, posterior column, with retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, Orphanet:88628]
synonym: "AXPC1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:609033]
synonym: "FLVCR1 retinopathy with or without ataxia" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "PCARP" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, Orphanet:88628]
synonym: "posterior column ataxia with retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:609033]
synonym: "posterior column ataxia-retinitis pigmentosa syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
is_a: MONDO:0020046 {source="https://clinicalgenome.org/affiliation/40072/"} ! autosomal recessive degenerative and progressive cerebellar ataxia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24682 {source="https://clinicalgenome.org/affiliation/40072/"} ! FLVCR1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100450
name: CAPN5-related vitreoretinopathy
def: "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:17497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:329211"}
subset: orphanet_rare {source="Orphanet:329211"}
subset: rare
synonym: "ADNIV" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, Orphanet:329211]
synonym: "autosomal dominant neovascular inflammatory vitreoretinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/, MONDO:0008664]
synonym: "CAPN5 vitreoretinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "proliferative vitreoretinopathy" BROAD [https://clinicalgenome.org/affiliation/40072/, MONDO:0006928]
synonym: "retinitis proliferans" EXACT [DOID:9719, https://clinicalgenome.org/affiliation/40072/]
synonym: "vitreoretinopathy, neovascular inflammatory" EXACT [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:193235]
synonym: "vitreoretinopathy, neovascular inflammatory, autosomal dominant" EXACT [https://clinicalgenome.org/affiliation/40072/, OMIM:193235]
synonym: "VRNI" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:193235]
xref: DOID:9719 {source="MONDO:equivalentTo", source="EFO:1001129"}
xref: GARD:17497 {source="MONDO:GARD"}
xref: ICD10CM:H35.2 {source="Orphanet:329211/attributed", source="Orphanet:329211/ntbt", source="Orphanet:329211"}
xref: ICD9:362.29 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10057896 {source="EFO:1001129"}
xref: MEDGEN:1648542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018630 {source="MONDO:mondoIsNarrowerThanSource", source="DOID:9719", source="EFO:1001129"}
xref: OMIM:193235 {source="Orphanet:329211/e", source="MONDO:equivalentTo", source="Orphanet:329211"}
xref: Orphanet:329211 {source="OMIM:193235", source="MONDO:equivalentTo"}
xref: SCTID:193364004 {source="DOID:9719"}
xref: SCTID:232016005 {source="MONDO:mondoIsNarrowerThanSource", source="DOID:9719", source="EFO:1001129"}
xref: SCTID:770791000 {source="MONDO:equivalentTo"}
xref: UMLS:C4721549 {source="MEDGEN:1648542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004860 {source="DOID:9719"} ! vitreous disorder
is_a: MONDO:0005283 {source="DOID:9719", source="MESH:D018630", source="MONDO:indirect"} ! retinal disorder
is_a: MONDO:0020246 {source="EFO:1001129", source="https://clinicalgenome.org/affiliation/40072/"} ! inherited vitreoretinopathy
is_a: MONDO:0020248 {source="Orphanet:329211"} ! vitreoretinal degeneration
is_a: MONDO:0700115 {source="https://clinicalgenome.org/affiliation/40072/"} ! proliferative vitreoretinopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0020248 {source="https://clinicalgenome.org/affiliation/40072/", source="https://orcid.org/0000-0001-5208-3432"} ! vitreoretinal degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1482 {source="MONDO:mim2gene_medgen", source="https://clinicalgenome.org/affiliation/40072/"} ! CAPN5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4259" xsd:anyURI

[Term]
id: MONDO:0100451
name: CEP290-related ciliopathy
def: "A ciliopathy caused by biallelic variants in the CEP290 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 10" NARROW [GARD:0010487, https://clinicalgenome.org/affiliation/40072/]
synonym: "Bardet-Biedl syndrome 14" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:615991]
synonym: "Bardet-Biedl syndrome type 14" NARROW [DOID:0110136, https://clinicalgenome.org/affiliation/40072/, MONDORULE:2, OMIM:615991]
synonym: "BBS14" NARROW ABBREVIATION [DOID:0110136, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:615991]
synonym: "CEP290 ciliopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "CEP290 Joubert syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CEP290 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CEP290 Meckel syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "CEP290 Senior-Loken syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "JBTS5" NARROW ABBREVIATION [DOID:0111000, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610188]
synonym: "Joubert syndrome 5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610188]
synonym: "Joubert syndrome caused by mutation in CEP290" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "Joubert syndrome type 5" NARROW [DOID:0111000, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:610188]
synonym: "LCA10" NARROW ABBREVIATION [DOID:0110291, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:611755]
synonym: "Leber congenital amaurosis 10" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:611755]
synonym: "Leber congenital amaurosis caused by mutation in CEP290" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 10" NARROW [DOID:0110291, https://clinicalgenome.org/affiliation/40072/, MONDORULE:2, OMIM:611755]
synonym: "Meckel syndrome 4" NARROW [DOID:0070118, https://clinicalgenome.org/affiliation/40072/]
synonym: "Meckel syndrome caused by mutation in CEP290" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "Meckel syndrome, type 4" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:611134]
synonym: "Meckel-Gruber syndrome, type 4" NARROW [DOID:0070118, https://clinicalgenome.org/affiliation/40072/, OMIM:611134]
synonym: "Meckel-like Cerebrorenodigital syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:611134]
synonym: "MKS4" NARROW ABBREVIATION [DOID:0070118, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:611134]
synonym: "SENIOR-Loken syndrome 6" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:610189]
synonym: "Senior-Loken syndrome 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610189]
synonym: "Senior-Loken syndrome caused by mutation in CEP290" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "Senior-Loken syndrome type 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:610189]
synonym: "SLSN6" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610189]
is_a: MONDO:0005308 {source="https://clinicalgenome.org/affiliation/40072/"} ! ciliopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100452
name: RPE65-related dominant retinopathy
def: "A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "dominant RPE65 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinitis pigmentosa 87 with choroidal involvement" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "RP87" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40072/]
xref: DOID:0112144 {source="MONDO:equivalentTo"}
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_characteristic HP:0000006 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100453
name: GUCY2D-related recessive retinopathy
def: "A retinopathy caused by biallelic variants in the GUCY2D gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "amaurosis congenita of Leber 1" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:204000]
synonym: "amaurosis congenita of Leber I" NARROW [DOID:0110078, https://clinicalgenome.org/affiliation/40072/]
synonym: "amaurosis congenita of Leber, type 1" NARROW [GARD:0000635, https://clinicalgenome.org/affiliation/40072/]
synonym: "cone-rod dystrophy 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:601777]
synonym: "cone-rod dystrophy caused by mutation in GUCY2D" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "cone-rod dystrophy type 6" NARROW [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:601777]
synonym: "CORD6" NARROW ABBREVIATION [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:601777]
synonym: "CRB" NARROW ABBREVIATION [GARD:0000635, https://clinicalgenome.org/affiliation/40072/]
synonym: "GUCY2D cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GUCY2D Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "LCA" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, OMIM:204000]
synonym: "LCA1" NARROW ABBREVIATION [DOID:0110078, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:204000]
synonym: "Leber congenital amaurosis 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:204000]
synonym: "Leber congenital amaurosis caused by mutation in GUCY2D" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern]
synonym: "Leber congenital amaurosis type 1" NARROW [DOID:0110078, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:204000]
synonym: "night blindness, congenital stationary, type 1I" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:618555]
synonym: "RCD2" NARROW ABBREVIATION [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, OMIM:601251, OMIM:601777]
synonym: "recessive GUCY2D retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinal blindness, congenital" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:204000]
synonym: "retinal cone dystrophy 2" NARROW [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, OMIM:601777]
is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D retinopathy
relationship: has_characteristic HP:0000007 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100454
name: GUCY2D retinopathy
def: "Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "retinopathy caused by mutation in GUCY2D" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3898" xsd:anyURI

[Term]
id: MONDO:0100455
name: neonatal-onset developmental and epileptic encephalopathy
def: "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur." [https://clinicalgenome.org/affiliation/40005/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0100062 {source="https://clinicalgenome.org/affiliation/40005/"} ! developmental and epileptic encephalopathy
intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_characteristic HP:0003623 ! Neonatal onset
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4058" xsd:anyURI

[Term]
id: MONDO:0100456
name: neonatal encephalopathy with non-epileptic myoclonus
def: "A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay." [https://clinicalgenome.org/affiliation/40005/]
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: rare
is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40005/"} ! complex neurodevelopmental disorder
relationship: has_characteristic HP:0003623 {source="https://clinicalgenome.org/affiliation/40005/"} ! Neonatal onset
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4059" xsd:anyURI

[Term]
id: MONDO:0100457
name: achalasia, familial esophageal
def: "An instance of achalsia that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: gard_rare {source="GARD:455", source="MONDO:GARD"}
subset: rare
synonym: "achalasia, familial esophageal" EXACT [OMIM:200400]
xref: GARD:455 {source="MONDO:GARD"}
xref: MEDGEN:395436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536011 {source="MONDO:equivalentTo"}
xref: OMIM:200400 {source="MONDO:equivalentTo"}
xref: UMLS:C1860213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395436"}
is_a: MONDO:0008698 {source="https://orcid.org/0000-0001-5208-3432"} ! achalasia
intersection_of: MONDO:0008698 ! achalasia
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4055" xsd:anyURI

[Term]
id: MONDO:0100458
name: MECOM-associated syndrome
def: "Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss." [https://orcid.org/0000-0002-7437-8060, PMID:29540340]
subset: clingen {source="MONDO:CLINGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-7437-8060"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3498 {source="https://orcid.org/0000-0002-7437-8060"} ! MECOM
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3952" xsd:anyURI

[Term]
id: MONDO:0100459
name: azoospermia
def: "A male infertility disease characterized by the absence of any measurable level of sperm in semen." [DOID:14227]
xref: DOID:14227 {source="MONDO:equivalentTo"}
xref: ICD10CM:N46.0 {source="DOID:14227"}
xref: ICD10CM:N46.01 {source="DOID:14227"}
xref: ICD9:606.0 {source="EFO:0000279", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14227"}
xref: MEDGEN:2150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D053713 {source="EFO:0000279", source="MONDO:equivalentTo", source="DOID:14227"}
xref: NCIT:C80076 {source="EFO:0000279", source="MONDO:otherHierarchy", source="DOID:14227"}
xref: Orphanet:217034 {source="DOID:14227"}
xref: SCTID:145008007 {source="DOID:14227"}
xref: SCTID:155925000 {source="DOID:14227"}
xref: SCTID:167781002 {source="DOID:14227"}
xref: SCTID:198010009 {source="DOID:14227"}
xref: SCTID:425558002 {source="EFO:0000279", source="MONDO:equivalentTo", source="DOID:14227"}
xref: SCTID:48188009 {source="EFO:0000279", source="DOID:14227"}
xref: UMLS:C0004509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2150"}
is_a: MONDO:0005372 {source="DOID:14227"} ! male infertility
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100460
name: tobacco addiction, susceptibility to
def: "An inherited susceptibility or predisposition to developing nicotine dependence." [MONDO:patterns/inherited_susceptibility]
synonym: "cigarette habituation, susceptibility to" EXACT [OMIM:188890]
synonym: "nicotine addiction, protection from" EXACT [OMIM:188890, OMIM:genemap2]
synonym: "nicotine addiction, susceptibility to" EXACT [OMIM:188890]
synonym: "nicotine dependence, protection against" EXACT [OMIM:188890, OMIM:genemap2]
synonym: "nicotine dependence, susceptibility to" EXACT [OMIM:188890]
synonym: "smoking habit, susceptibility to" EXACT [OMIM:188890]
synonym: "susceptibility to tobacco addiction" EXACT [OMIM:188890]
synonym: "tobacco addiction, susceptibility to" EXACT [OMIM:188890]
xref: MEDGEN:348778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:188890 {source="DOID:0050742", source="MONDO:equivalentTo"}
xref: UMLS:C1861063 {source="MONDO:equivalentTo", source="MEDGEN:348778", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:188890"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0008575 {source="OMIM:188890"} ! nicotine dependence
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4809" xsd:anyURI

[Term]
id: MONDO:0100461
name: obsolete gastrointestinal defects and immunodeficiency syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4167" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800030

[Term]
id: MONDO:0100462
name: short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
def: "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." [Orphanet:251262]
subset: gard_rare {source="GARD:4133", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:251262"}
subset: orphanet_rare {source="Orphanet:251262"}
subset: rare
synonym: "OD" EXACT ABBREVIATION [OMIM:165800]
synonym: "osteochondritis dissecans and short stature" EXACT [Orphanet:251262]
synonym: "osteochondritis dissecans, short stature, and early-onset osteoarthritis" EXACT [OMIM:165800]
synonym: "SSOAOD" EXACT ABBREVIATION [OMIM:165800]
xref: GARD:4133 {source="MONDO:GARD"}
xref: MEDGEN:777109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:165800 {source="MONDO:equivalentTo"}
xref: Orphanet:251262 {source="MONDO:equivalentTo"}
xref: UMLS:C3665488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:777109"}
is_a: MONDO:0018383 {source="Orphanet:251262", source="https://orcid.org/0000-0001-5208-3432"} ! osteonecrosis of genetic origin
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4167" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0100463
name: methylmalonic aciduria and/or homocystinuria, cblD type
def: "An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders." [https://orcid.org/0000-0002-5655-9589]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019220 ! inborn disorder of cobalamin metabolism and transport
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4905" xsd:anyURI

[Term]
id: MONDO:0100464
name: acid sphingomyelinase deficiency
def: "An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B." [https://clinicalgenome.org/affiliation/40110/, PMID:20301544, PMID:28406489, PMID:34654332]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:1800807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5243927 {source="MEDGEN:1800807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001982 {source="https://clinicalgenome.org/affiliation/40110/"} ! Niemann-Pick disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4984" xsd:anyURI

[Term]
id: MONDO:0100465
name: complex neurodevelopmental disorder with or without congenital anomalies
def: "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally." [https://clinicalgenome.org/affiliation/40006/, https://orcid.org/0000-0001-5751-2224]
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: rare
is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/", source="https://orcid.org/0000-0001-5751-2224"} ! complex neurodevelopmental disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4938" xsd:anyURI

[Term]
id: MONDO:0100466
name: butterfly-shaped pigment dystrophy
def: "A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age." [Orphanet:99001]
subset: gard_rare {source="GARD:16890", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99001"}
subset: orphanet_rare {source="Orphanet:99001"}
subset: rare
synonym: "butterfly-shaped pattern dystrophy" EXACT [Orphanet:99001]
synonym: "butterfly-shaped pigment dystrophy" EXACT [Orphanet:99001]
synonym: "butterfly-shaped pigmentary macular dystrophy" EXACT [Orphanet:99001]
xref: GARD:16890 {source="MONDO:GARD"}
xref: MEDGEN:1381271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99001 {source="MONDO:equivalentTo"}
xref: SCTID:725590001 {source="MONDO:equivalentTo"}
xref: UMLS:C4511237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381271"}
is_a: MONDO:0018973 {source="https://orcid.org/0000-0001-5208-3432"} ! patterned dystrophy of the retinal pigment epithelium
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1819" xsd:anyURI

[Term]
id: MONDO:0100467
name: preeclampsia/eclampsia 1
subset: gard_rare {source="GARD:18389", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [OMIM:189800]
synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800]
synonym: "PEE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:189800]
synonym: "PREECLAMPSIA/eclampsia 1" EXACT [MONDO:Lexical, OMIM:189800]
synonym: "PREG1" EXACT [OMIM:189800]
synonym: "toxaemia of pregnancy" BROAD OMO:0003005 []
synonym: "toxemia of pregnancy" BROAD [OMIM:189800]
xref: GARD:18389 {source="MONDO:GARD"}
xref: MEDGEN:1807479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:189800 {source="MONDO:equivalentTo"}
xref: UMLS:C5574918 {source="MEDGEN:1807479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005081 {source="OMIM:189800"} ! preeclampsia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100468
name: Batten-Turner congenital myopathy
def: "A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy." [OMIM:255300]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081335 {source="MONDO:equivalentTo"}
xref: MEDGEN:10158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:255300 {source="MONDO:equivalentTo"}
xref: UMLS:C0027127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10158"}
is_a: MONDO:0019952 {source="https://orcid.org/0009-0001-6494-4831"} ! congenital myopathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2575" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0100469
name: anosmia, isolated congenital, X-linked
def: "X-linked form of anosmia, isolated congenital." [MONDO:patterns/x_linked]
xref: MEDGEN:1794322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301700 {source="MONDO:equivalentTo"}
xref: UMLS:C5562112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794322"}
is_a: MONDO:0010528 {source="https://orcid.org/0000-0001-5493-2602"} ! anosmia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3834" xsd:anyURI

[Term]
id: MONDO:0100470
name: reactive airway disease
def: "Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants." [NCIT:C113673]
synonym: "hyperactive airway disease" EXACT [NCIT:C113673]
synonym: "reactive airway disease (AQ)" EXACT [NCIT:C113673]
xref: MEDGEN:811342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C113673 {source="MONDO:equivalentTo"}
xref: SCTID:991000119106 {source="MONDO:equivalentTo"}
xref: UMLS:C3714497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811342"}
is_a: MONDO:0005087 {source="SCTID:991000119106"} ! respiratory system disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100471
name: vitamin D deficiency
def: "Abnormally low level of 25-hydroxyvitamin D in the blood." [NCIT:C114830]
synonym: "avitaminosis D" EXACT [DOID:10574, EFO:0003762]
synonym: "avitaminosis D, NOS" EXACT [DOID:10574, EFO:0003762]
synonym: "DEFIC VITAMIN D" EXACT [EFO:0003762]
synonym: "deficiencies, vitamin D" EXACT [EFO:0003762]
synonym: "deficiency of vitamin D (disorder)" EXACT [DOID:10574]
synonym: "deficiency, vitamin D" EXACT [EFO:0003762]
synonym: "VITAMIN D DEFIC" EXACT [EFO:0003762]
synonym: "vitamin D deficiencies" EXACT [EFO:0003762]
synonym: "vitamin D deficiency (disorder)" EXACT [EFO:0003762]
synonym: "vitamin D deficiency, NOS" EXACT [EFO:0003762]
synonym: "vitamin D insufficiency" EXACT [EFO:0003762]
xref: DOID:10574 {source="MONDO:equivalentObsolete"}
xref: HP:0100512 {source="MONDO:otherHierarchy"}
xref: ICD10CM:E55 {source="EFO:0003762", source="MONDO:equivalentTo"}
xref: ICD9:268 {source="EFO:0003762", source="MONDO:equivalentTo", source="DOID:10574"}
xref: MEDGEN:12114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014808 {source="EFO:0003762", source="MONDO:equivalentTo"}
xref: NCIT:C114830 {source="EFO:0003762", source="MONDO:equivalentTo", source="DOID:10574"}
xref: SCTID:34713006 {source="EFO:0003762", source="MONDO:equivalentTo"}
xref: UMLS:C0042870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12114"}
is_a: MONDO:0024298 {source="DOID:10574", source="EFO:0003762"} ! vitamin deficiency disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100472
name: lissencephaly spectrum disorder with complex brainstem malformation
def: "A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia)." [https://www.clinicalgenome.org/affiliation/40020/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0018838 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! lissencephaly spectrum disorders
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6271" xsd:anyURI

[Term]
id: MONDO:0100473
name: disorder of peptide and amine metabolism
def: "An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019052 {source="PMID:33340416"} ! inborn errors of metabolism
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0100474
name: mild ichthyosis vulgaris
def: "An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations." [https://orcid.org/0000-0002-0736-9199, PMID:23301728]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0007810 {source="https://orcid.org/0000-0002-0736-9199"} ! autosomal dominant ichthyosis vulgaris
intersection_of: MONDO:0024304 ! ichthyosis vulgaris
intersection_of: has_characteristic HP:0012825 ! Mild
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2360" xsd:anyURI

[Term]
id: MONDO:0100475
name: severe ichthyosis vulgaris
def: "An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations." [https://orcid.org/0000-0002-0736-9199, PMID:23301728]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0007810 {source="https://orcid.org/0000-0002-0736-9199"} ! autosomal dominant ichthyosis vulgaris
intersection_of: MONDO:0024304 ! ichthyosis vulgaris
intersection_of: has_characteristic HP:0012828 ! Severe
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2360" xsd:anyURI

[Term]
id: MONDO:0100476
name: lipodystrophy, partial, acquired, susceptibility to
def: "An inherited susceptibility or predisposition to developing acquired partial lipodystrophy." [MONDO:patterns/inherited_susceptibility]
synonym: "APLD, susceptibility to" EXACT [OMIM:608709]
synonym: "barraquer-simons syndrome" EXACT [OMIM:608709]
synonym: "lipodystrophy, cephalothoracic type" EXACT [OMIM:608709]
synonym: "lipodystrophy, partial, acquired, susceptibility" EXACT [MONDO:patterns/inherited_susceptibility]
synonym: "lipodystrophy, partial, progressive" EXACT [OMIM:608709]
xref: MEDGEN:854363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608709 {source="MONDO:equivalentTo"}
xref: UMLS:C3887501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854363"}
is_a: MONDO:0020573 {source="OMIM:608709"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6638 ! LMNB2
intersection_of: predisposes_towards MONDO:0012104 ! acquired partial lipodystrophy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100477
name: disorder of methylamine metabolism
def: "An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0030416 ! methylamine metabolic process
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0100478
name: brain malformations with or without urinary tract defects
def: "A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures." [https://www.clinicalgenome.org/affiliation/40020/]
comment: NFIA is one of the genes involved in the 1p31p32 microdeletion syndrome, which presents with very similar features.
subset: clingen {source="MONDO:CLINGEN"}
xref: OMIM:613735 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! brain disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7784 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! NFIA
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5361" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5521" xsd:anyURI

[Term]
id: MONDO:0100479
name: rifampicin-resistant tuberculosis
def: "A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications." [https://orcid.org/0000-0002-6670-9157, PMID:25918181, PMID:29319042]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "rifampicin-resistant TB" EXACT [PMID:25918181, PMID:29319042]
synonym: "RR-TB" EXACT ABBREVIATION [PMID:25918181, PMID:29319042]
xref: MEDGEN:735456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1532782 {source="MEDGEN:735456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0041806 {source="PMID:25918181", source="PMID:29319042"} ! drug-resistant tuberculosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100480
name: autoimmune primary adrenal insufficiency
def: "Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands." [NCIT:C113814]
subset: gard_rare {source="GARD:5740", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:85138"}
subset: orphanet_rare {source="Orphanet:85138"}
subset: rare
synonym: "autoimmune Addison's disease" EXACT [NCIT:C113814]
synonym: "autoimmune adrenalitis" RELATED [NCIT:C113814]
xref: GARD:5740 {source="MONDO:GARD"}
xref: icd11.foundation:1920929898 {source="Orphanet:85138", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"}
xref: MEDGEN:543526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C113814 {source="MONDO:equivalentTo"}
xref: Orphanet:85138 {source="MONDO:equivalentTo"}
xref: UMLS:C0271737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:543526"}
is_a: MONDO:0015129 {source="NCIT:C113814"} ! chronic primary adrenal insufficiency
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100481
name: active tuberculosis
def: "Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease." [https://orcid.org/0000-0002-6670-9157, PMID:30020618]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "active TB" EXACT [https://orcid.org/0000-0002-6670-9157, PMID:30020618]
xref: MEDGEN:508753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0151332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508753"}
is_a: MONDO:0018076 {source="https://orcid.org/0000-0002-6670-9157"} ! tuberculosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100482
name: extensively drug-resistant tuberculosis
def: "A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid." [https://orcid.org/0000-0002-6670-9157, PMID:25918181]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "XDR-TB" EXACT ABBREVIATION [https://orcid.org/0000-0002-6670-9157, PMID:25918181]
xref: MEDGEN:321809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054908 {source="MONDO:equivalentTo"}
xref: NCIT:C128417 {source="MONDO:equivalentTo"}
xref: UMLS:C1827301 {source="MEDGEN:321809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0041806 {source="https://orcid.org/0000-0002-6670-9157"} ! drug-resistant tuberculosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100483
name: totally drug-resistant tuberculosis
def: "A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin)." [https://orcid.org/0000-0002-6670-9157, PMID:23641309, PMID:24809736]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "TDR-TB" EXACT ABBREVIATION [https://orcid.org/0000-0002-6670-9157, PMID:23641309, PMID:24809736]
is_a: MONDO:0041806 {source="https://orcid.org/0000-0002-6670-9157"} ! drug-resistant tuberculosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100484
name: TSPAN12-related vitreoretinopathy
def: "A vitreoretinopathy caused by variants in the TSPAN12 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "exudative vitreoretinopathy 5" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "exudative vitreoretinopathy caused by mutation in TSPAN12" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "TSPAN12 exudative vitreoretinopathy" NARROW [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0020246 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited vitreoretinopathy
intersection_of: MONDO:0020246 ! inherited vitreoretinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21641 ! TSPAN12
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100485
name: KCNH1 associated disorder
def: "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently." [https://clinicalgenome.org/affiliation/40006/, PMID:25420144, PMID:25915598, PMID:33811134]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "KCNH1 related disorder" EXACT []
is_a: MONDO:0700092 {source="https://clinicalgenome.org/affiliation/40006/"} ! neurodevelopmental disorder
intersection_of: MONDO:0700092 ! neurodevelopmental disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6250 ! KCNH1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100486
name: adult acne
def: "Acne that occurs in an adult." [MONDO:patterns/adult]
synonym: "acne, adult" EXACT [OMIM:604324]
xref: MEDGEN:348960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565791 {source="MONDO:equivalentTo"}
xref: OMIM:604324 {source="MONDO:equivalentTo"}
xref: UMLS:C1858506 {source="MEDGEN:348960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011438 {source="https://orcid.org/0000-0001-5493-2602"} ! acne
intersection_of: MONDO:0011438 ! acne
intersection_of: has_characteristic HP:0003581 ! Adult onset
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4090" xsd:anyURI

[Term]
id: MONDO:0100487
name: TPM4-related platelet disorder
def: "A platelet disorder in which the cause of the disease is a variant in the TPM4 gene." [https://clinicalgenome.org/affiliation/40028/, https://orcid.org/0000-0001-6964-7302, PMID:28134622, PMID:34758189]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "TPM4-related platelet dysfunction with or without thrombocytopenia" EXACT []
is_a: MONDO:0002245 {source="https://clinicalgenome.org/affiliation/40028/"} ! blood platelet disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12013 {source="https://clinicalgenome.org/affiliation/40028/"} ! TPM4
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4541" xsd:anyURI

[Term]
id: MONDO:0100488
name: CDH1-related diffuse gastric and lobular breast cancer syndrome
def: "Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women." [https://www.clinicalgenome.org/affiliation/50014/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DGLBC" EXACT ABBREVIATION [OMIM:137215]
synonym: "diffuse gastric and lobular breast cancer syndrome" EXACT [OMIM:137215]
synonym: "gastric cancer, familial diffuse breast cancer, lobular" EXACT [OMIM:137215]
synonym: "gastric cancer, hereditary diffuse" EXACT [OMIM:137215]
synonym: "HDGC" EXACT ABBREVIATION [OMIM:137215]
synonym: "LBC" EXACT ABBREVIATION [OMIM:137215]
xref: OMIM:137215 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="https://www.clinicalgenome.org/affiliation/50014/"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 {source="OMIM:137215", source="https://www.clinicalgenome.org/affiliation/50014/"} ! CDH1
relationship: predisposes_towards MONDO:0000552 {source="https://www.clinicalgenome.org/affiliation/50014/"} ! breast lobular carcinoma
relationship: predisposes_towards MONDO:0018502 {source="https://www.clinicalgenome.org/affiliation/50014/"} ! hereditary gastric cancer
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4549" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5720" xsd:anyURI

[Term]
id: MONDO:0100489
name: Graves disease, susceptibility to, 1
synonym: "Graves disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:275000]
xref: MEDGEN:341307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:275000 {source="MONDO:equivalentTo"}
xref: UMLS:C1848795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341307"}
is_a: MONDO:0020573 {source="OMIM:275000"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0010138 {source="OMIM:275000"} ! thyrotoxicosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100490
name: breasts and/or nipples, aplasia or hypoplasia of, 1
subset: gard_rare {source="GARD:15045", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "amastia" RELATED [OMIM:113700]
synonym: "amazia" RELATED [OMIM:113700]
synonym: "athelia" RELATED [MESH:C535565, OMIM:113700]
synonym: "BNAH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113700]
synonym: "breasts and/or nipples, aplasia or hypoplasia of, 1" EXACT [MONDO:Lexical, OMIM:113700]
xref: GARD:15045 {source="MONDO:GARD"}
xref: OMIM:113700 {source="MONDO:equivalentTo"}
is_a: MONDO:0015855 {source="OMIM:113700"} ! isolated congenital breast hypoplasia/aplasia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4449" xsd:anyURI

[Term]
id: MONDO:0100491
name: generalized pustular psoriasis
def: "A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time." [PMID:29630241]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:247353"}
subset: orphanet_rare {source="Orphanet:247353"}
subset: rare
xref: ICD10CM:L40.1 {source="MONDO:equivalentTo"}
xref: MEDGEN:473074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:247353 {source="MONDO:equivalentTo"}
xref: SCTID:238612002 {source="MONDO:equivalentTo"}
xref: UMLS:C0343055 {source="MEDGEN:473074", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0022205 {source="SCTID:238612002", source="https://orcid.org/0000-0001-5208-3432"} ! pustular psoriasis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4496" xsd:anyURI

[Term]
id: MONDO:0100492
name: Bonnevie-Ullrich syndrome
def: "A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy." [NCIT:C34434]
synonym: "Bonnevie-Ullrich syndrome" EXACT [NCIT:C34434]
synonym: "Bonnevie-Ulrich syndrome" RELATED [GARD:0007831]
xref: DOID:3491 {source="MONDO:relatedTo"}
xref: MEDGEN:315907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C34434 {source="MONDO:equivalentTo"}
xref: UMLS:C1527168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:315907"}
is_a: MONDO:0002254 {source="NCIT:C34434"} ! syndromic disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5089" xsd:anyURI

[Term]
id: MONDO:0100493
name: autosomal recessive titinopathy
def: "Autosomal recessive form of TTN-related myopathy." [MONDO:patterns/autosomal_recessive]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "TTN-related myopathy, autosomal recessive" EXACT [https://clinicalgenome.org/affiliation/40031/]
is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy
intersection_of: MONDO:0100175 ! TTN-related myopathy
intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100494
name: autosomal dominant titinopathy
def: "Autosomal dominant form of TTN-related myopathy." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "TTN-related myopathy, autosomal dominant" EXACT [https://clinicalgenome.org/affiliation/40031/]
is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy
intersection_of: MONDO:0100175 ! TTN-related myopathy
intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100495
name: autosomal recessive distal titinopathy
def: "A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles." [https://clinicalgenome.org/affiliation/40031/, PMID:24395473, PMID:27796757]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "distal titinopathy" BROAD [https://clinicalgenome.org/affiliation/40031/]
is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100496
name: Emery-Dreifuss-like muscular dystrophy
def: "A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy." [https://clinicalgenome.org/affiliation/40031/, PMID:26581302]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100497
name: titinopathy with congenital contractures
def: "A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities." [https://clinicalgenome.org/affiliation/40031/, PMID:24105469, PMID:28040389, PMID:29575618, PMID:29691892, PMID:31660661]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0100493 {source="https://clinicalgenome.org/affiliation/40031/"} ! autosomal recessive titinopathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100498
name: UROD-related inherited porphyria
def: "Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene." [https://clinicalgenome.org/affiliation/40097/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0019142 {source="https://clinicalgenome.org/affiliation/40097/"} ! inherited porphyria
intersection_of: MONDO:0019142 ! inherited porphyria
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12591 ! UROD
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5128" xsd:anyURI

[Term]
id: MONDO:0100499
name: multiple congenital anomalies due to 14q32.2 imprinting defect
def: "Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including \"coat-hanger ribs\", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14)." [https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/, PMID:34760887]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019042 {source="https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/"} ! multiple congenital anomalies/dysmorphic syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6125" xsd:anyURI

[Term]
id: MONDO:0100500
name: Mendelian neurodevelopmental disorder
def: "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome." [MONDO:patterns/hereditary]
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! hereditary disease
intersection_of: MONDO:0700092 ! neurodevelopmental disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4789" xsd:anyURI

[Term]
id: MONDO:0100501
name: body-stalk anomaly
def: "A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs." [PMID:33115503]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "body stalk anomaly" EXACT [PMID:33115503]
synonym: "body stalk complex" EXACT [PMID:33115503]
synonym: "BSA" EXACT ABBREVIATION [PMID:33115503]
synonym: "LBWC" NARROW ABBREVIATION [PMID:33115503]
synonym: "limb body wall complex" NARROW [PMID:33115503]
xref: Orphanet:2369 {source="MONDO:relatedTo"}
is_a: MONDO:0100298 {source="PMID:33115503"} ! abdominal wall malformation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5422" xsd:anyURI

[Term]
id: MONDO:0100502
name: NTHL1-deficiency tumor predisposition syndrome
def: "Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer." [https://clinicalgenome.org/affiliation/40023/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020573 {source="https://clinicalgenome.org/affiliation/40023/"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8028 {source="https://clinicalgenome.org/affiliation/40023/"} ! NTHL1
relationship: predisposes_towards MONDO:0005070 {source="https://clinicalgenome.org/affiliation/40023/"} ! neoplasm

[Term]
id: MONDO:0100503
name: DPH5-related diphthamide-deficiency syndrome
def: "A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages." [PMID:35482014]
is_a: MONDO:0700092 {source="PMID:35482014"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24270 ! DPH5
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5178" xsd:anyURI

[Term]
id: MONDO:0100504
name: fungal infection of the toenail
def: "A fungal infectious disease that involves the toenail." [MONDO:patterns/location]
is_a: MONDO:0002041 {source="https://orcid.org/0000-0001-5208-3432"} ! fungal infectious disease
intersection_of: MONDO:0002041 ! fungal infectious disease
intersection_of: disease_has_location UBERON:0009567 ! nail of pedal digit
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100505
name: food dermatitis
def: "Dermatitis caused by an allergic reaction to ingested food." [NCIT:C34534]
synonym: "dermatitis due to food taken internally" EXACT [NCIT:C34534]
xref: NCIT:C34534 {source="MONDO:equivalentTo"}
is_a: MONDO:0002406 {source="NCIT:C34534"} ! dermatitis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100506
name: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
def: "An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease." [https://clinicalgenome.org/affiliation/40060/, PMID:10196384, PMID:18628313, PMID:19894250, PMID:9443879]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0016006 {source="https://clinicalgenome.org/affiliation/40060/"} ! Cockayne syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5200" xsd:anyURI

[Term]
id: MONDO:0100507
name: multiple congenital anomalies due to 14q32.2 paternally expressed gene defect
def: "Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14)." [https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/, PMID:34760887]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Temple syndrome" BROAD [https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/]
is_a: MONDO:0100499 {source="https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/"} ! multiple congenital anomalies due to 14q32.2 imprinting defect
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6129" xsd:anyURI

[Term]
id: MONDO:0100508
name: salivary gland type cancer of the breast
def: "A group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma." [https://orcid.org/0000-0001-5208-3432, Orphanet:213557]
subset: gard_rare {source="GARD:12774", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:213557"}
subset: orphanet_rare {source="Orphanet:213557"}
subset: rare
synonym: "salivary gland type carcinoma of the breast" EXACT [Orphanet:213557]
xref: GARD:12774 {source="MONDO:GARD"}
xref: ICD10CM:C50.0 {source="Orphanet:213557/btnt", source="Orphanet:213557"}
xref: ICD10CM:C50.1 {source="Orphanet:213557/btnt", source="Orphanet:213557"}
xref: ICD10CM:C50.2 {source="Orphanet:213557/btnt", source="MONDO:relatedTo", source="Orphanet:213557"}
xref: ICD10CM:C50.3 {source="Orphanet:213557/btnt", source="MONDO:relatedTo", source="Orphanet:213557"}
xref: ICD10CM:C50.4 {source="Orphanet:213557/btnt", source="Orphanet:213557"}
xref: ICD10CM:C50.5 {source="Orphanet:213557/btnt", source="Orphanet:213557"}
xref: ICD10CM:C50.6 {source="Orphanet:213557/btnt", source="MONDO:relatedTo", source="Orphanet:213557"}
xref: ICD10CM:C50.8 {source="Orphanet:213557/btnt", source="Orphanet:213557"}
xref: MEDGEN:903115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213557 {source="MONDO:equivalentTo"}
xref: SCTID:716593008 {source="MONDO:equivalentTo"}
xref: UMLS:C4274421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903115"}
is_a: MONDO:0007254 {source="Orphanet:213557", source="https://orcid.org/0000-0001-5208-3432"} ! breast cancer
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015870"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12774/salivary-gland-type-cancer-of-the-breast" xsd:anyURI {source="GARD:0012774"}

[Term]
id: MONDO:0100509
name: IFT140-related recessive ciliopathy
def: "Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene." [PMID:22503633, PMID:23418020, PMID:26359340]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "IFT140-related recessive ciliopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinitis pigmentosa 80" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" NARROW [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0005308 {source="https://clinicalgenome.org/affiliation/40072/"} ! ciliopathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100510
name: spondyloepimetaphyseal dysplasia
def: "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis." [DOID:0080027, https://orcid.org/0000-0001-5208-3432]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SEMD" EXACT ABBREVIATION [PMID:18328979]
synonym: "spondylo-epi-(meta)-physeal dysplasia" EXACT [PMID:31633310]
xref: DOID:0080027 {source="MONDO:equivalentTo"}
xref: MEDGEN:609408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:254062008 {source="MONDO:equivalentTo"}
xref: UMLS:C0432211 {source="MEDGEN:609408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="DOID:0080027"} ! osteochondrodysplasia
is_a: MONDO:0018230 {source="Orphanet:253", source="PMID:31633310"} ! skeletal dysplasia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI

[Term]
id: MONDO:0100511
name: sudden cardiac arrest
def: "The sudden loss of all heart activity due to an irregular heart rhythm." [https://www.mayoclinic.org/diseases-conditions/sudden-cardiac-arrest/symptoms-causes/syc-20350634]
comment: Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. {source="EFO:0004278"}
xref: MEDGEN:354518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C1720824 {source="MONDO:equivalentTo"}
xref: UMLS:C1720824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354518"}
is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2419" xsd:anyURI

[Term]
id: MONDO:0100512
name: mitochondrial DNA depletion syndrome, hepatocerebral form
subset: disease_grouping
subset: gard_rare {source="GARD:20769", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:254871"}
subset: rare
synonym: "deoxyguanosine kinase deficiency" EXACT [Orphanet:254871]
synonym: "mtDNA depletion syndrome, hepatocerebral form" EXACT [Orphanet:254871]
xref: GARD:20769 {source="MONDO:GARD"}
xref: MEDGEN:777993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580039 {source="MONDO:equivalentTo"}
xref: Orphanet:254871 {source="MONDO:equivalentTo"}
xref: UMLS:C3711385 {source="MEDGEN:777993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005066 {source="Orphanet:254871", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
is_a: MONDO:0018158 {source="Orphanet:254871", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial DNA depletion syndrome
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI

[Term]
id: MONDO:0100513
name: TRAF3 haploinsufficiency
def: "Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia." [https://clinicalgenome.org/affiliation/40080/, PMID:35960817]
subset: clingen {source="MONDO:CLINGEN"}
is_a: MONDO:0003847 {source="https://clinicalgenome.org/affiliation/40080/"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12033 {source="https://clinicalgenome.org/affiliation/40080/"} ! TRAF3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6299" xsd:anyURI

[Term]
id: MONDO:0100514
name: familial ovarian carcinoma
def: "Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma." [NCIT:C36102]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "familial ovarian carcinoma" EXACT [NCIT:C36102]
synonym: "familiar ovarian carcinoma" RELATED [DOID:6901]
synonym: "hereditary ovarian cancer" BROAD [NCIT:C36102]
synonym: "hereditary ovarian carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C36102]
xref: DOID:6901 {source="MONDO:equivalentTo"}
xref: MEDGEN:272713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C36102 {source="DOID:6901", source="MONDO:equivalentTo"}
xref: UMLS:C1333992 {source="MEDGEN:272713", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002229 {source="DOID:6901", source="MONDO:0004033/inferred", source="MONDO:Redundant", source="NCIT:C36102/inferred"} ! ovarian epithelial tumor
is_a: MONDO:0005140 {source="MONDO:Redundant", source="NCIT:C36102"} ! ovarian carcinoma
intersection_of: MONDO:0005140 ! ovarian carcinoma
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4889" xsd:anyURI

[Term]
id: MONDO:0100515
name: mirror movements 1 and/or agenesis of the corpus callosum
def: "A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family)." [https://www.clinicalgenome.org/affiliation/40020/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0016558 ! familial congenital mirror movements
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5219" xsd:anyURI

[Term]
id: MONDO:0100516
name: complex neurodevelopmental disorder with motor features
def: "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia." []
comment: This term is similar to cerebral palsy, but this is for individuals who do not have a clinical diagnosis. There is a subset of cases that encompass both complex neurodevelopmental disorders and motor features.
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0100038 {source="https://www.clinicalgenome.org/affiliation/40113/"} ! complex neurodevelopmental disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100517
name: PSAP-related sphingolipidosis
def: "A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact." [https://clinicalgenome.org/affiliation/50009/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019255 {source="https://clinicalgenome.org/affiliation/50009/"} ! sphingolipidosis
intersection_of: MONDO:0019255 ! sphingolipidosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9498 ! PSAP
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100518
name: hereditary attention deficit-hyperactivity disorder
def: "An instance of attention deficit-hyperactivity disorder that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
xref: OMIM:143465 {source="MONDO:equivalentTo"}
is_a: MONDO:0007743 {source="OMIM:143465"} ! attention deficit-hyperactivity disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100519
name: epilepsy, idiopathic generalized, susceptibility to, 17
comment: The OMIM entries here are named generically, the same as the PS but it refers to a susceptibility conferred by a specific gene.
synonym: "EIG17" EXACT ABBREVIATION [OMIM:602477]
xref: MEDGEN:1794141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:602477 {source="MONDO:equivalentTo"}
xref: UMLS:C5561931 {source="MONDO:equivalentTo", source="MEDGEN:1794141", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:602477"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005579 {source="OMIM:602477"} ! epilepsy, idiopathic generalized
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100520
name: NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
def: "The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998." [https://orcid.org/0009-0009-9147-3105, PMID:9565498]
subset: clingen {source="MONDO:CLINGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-9310-0163"} ! endocrine system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11825 {source="PMID:9565498", source="https://orcid.org/0009-0009-9147-3105"} ! NKX2-1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6296" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0100521
name: NOG-related symphalangism spectrum disorder
def: "An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion." [https://orcid.org/0009-0009-9147-3105, PMID:21538686]
comment: Lumping the subtypes described above into one disease entity is justified by the common molecular mechanism, overlapping variants, and variable phenotypic spectrum within families and among families with the same mutation. The term NOG-SSD aids in the clinical diagnosis and evaluation of affected individuals.
synonym: "NOG-SSD" EXACT ABBREVIATION [PMID:21538686]
is_a: MONDO:0000151 {source="https://orcid.org/0000-0001-5208-3432"} ! symphalangism
relationship: has_characteristic HP:0000006 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6338" xsd:anyURI

[Term]
id: MONDO:0100522
name: hypotrichosis 4
subset: gard_rare {source="GARD:15078", source="MONDO:GARD"}
subset: rare
synonym: "hypotrichosis 4" EXACT [MONDO:0007806, MONDO:Lexical, OMIM:146550]
synonym: "hypotrichosis type 4" EXACT [DOID:0110701, MONDORULE:1, OMIM:146550]
synonym: "hypotrichosis, Marie Unna type, 1" EXACT [DOID:0110701, OMIM:146550]
synonym: "HYPT4" EXACT ABBREVIATION [DOID:0110701, MONDO:Lexical, OMIM:146550]
synonym: "Marie Unna hereditary hypotrichosis 1" EXACT [DOID:0110701, OMIM:146550]
synonym: "MUHH1" EXACT ABBREVIATION [DOID:0110701]
xref: DOID:0110701 {source="MONDO:equivalentTo"}
xref: GARD:15078 {source="MONDO:GARD"}
xref: MEDGEN:413053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567718 {source="MONDO:equivalentTo"}
xref: OMIM:146550 {source="MONDO:equivalentTo"}
xref: UMLS:C2750815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413053"}
is_a: MONDO:0018631 {source="https://orcid.org/0000-0001-5493-2602"} ! Marie Unna hereditary hypotrichosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6357" xsd:anyURI

[Term]
id: MONDO:0100523
name: SPAST-related motor disorder
def: "Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity," [https://clinicalgenome.org/affiliation/40006/]
is_a: MONDO:0002602 {source="https://clinicalgenome.org/affiliation/40006/"} ! central nervous system disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11233 {source="https://clinicalgenome.org/affiliation/40006/"} ! SPAST
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6279" xsd:anyURI

[Term]
id: MONDO:0100524
name: ASAH1-related sphingolipidosis
def: "A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide." [PMID:30029679] {source="https://clinicalgenome.org/affiliation/40110/"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "acid ceramidase deficiency" NARROW [https://clinicalgenome.org/affiliation/40110/]
is_a: MONDO:0019255 {source="PMID:30029679", source="https://clinicalgenome.org/affiliation/40110/"} ! sphingolipidosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5881" xsd:anyURI

[Term]
id: MONDO:0100525
name: TCF7L2-related neurodevelopmental disorder
def: "A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone." [https://rarediseases.org/rare-diseases/145702/, PMID:34003604]
is_a: MONDO:0700092 {source="PMID:34003604"} ! neurodevelopmental disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6497" xsd:anyURI

[Term]
id: MONDO:0100526
name: breast-ovarian cancer, familial, susceptibility to
xref: OMIMPS:604370 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIMPS:604370"} ! inherited disease susceptibility
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604370"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/6628" xsd:anyURI

[Term]
id: MONDO:0100527
name: dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
def: "An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies." [Orphanet:2204]
subset: gard_rare {source="GARD:2022", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:2204"}
subset: rare
synonym: "Kozlowski-Tsuruta syndrome" EXACT [Orphanet:2204]
xref: GARD:2022 {source="MONDO:GARD"}
xref: MEDGEN:1830504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:2204 {source="MONDO:equivalentTo"}
xref: UMLS:C5780027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830504"}
is_a: MONDO:0016357 {source="Orphanet:2204", source="https://orcid.org/0000-0001-5208-3432"} ! dysplastic cortical hyperostosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100528
name: Hao-Fountain syndrome due to 16p13.2 microdeletion
def: "A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors." [Orphanet:500055]
subset: gard_rare {source="GARD:17920", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:500055"}
subset: rare
synonym: "16p13.2 microdeletion syndrome" EXACT [Orphanet:500055]
synonym: "chromosome 16P13.2 deletion syndrome" EXACT [OMIM:616863]
synonym: "chromosome 16p13.2 deletion syndrome" EXACT [OMIM:616863]
synonym: "Del(16)(p13.2)" EXACT [Orphanet:500055]
synonym: "monosomy 16p13.2" EXACT [Orphanet:500055]
xref: GARD:17920 {source="MONDO:GARD"}
xref: MEDGEN:1804697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616863 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:500055 {source="MONDO:equivalentTo"}
xref: UMLS:C5680086 {source="MEDGEN:1804697", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000761 {source="Orphanet:500055"} ! syndrome caused by partial chromosomal deletion
is_a: MONDO:0014805 {source="Orphanet:500055", source="https://orcid.org/0000-0001-5208-3432"} ! Hao-Fountain syndrome
is_a: MONDO:0016894 {source="Orphanet:500055"} ! partial deletion of the short arm of chromosome 16
relationship: disease_arises_from_structure CHR:9606-chr16p13.2 {source="Orphanet:500055"} ! 16p13.2 (Human)
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0100529
name: Sunflower syndrome
def: "A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness." [https://www.massgeneral.org/children/sunflower-syndrome, PMID:33135153, PMID:34653789]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EEM with prominent photic induction" EXACT [PMID:33135153]
is_a: MONDO:0015643 {source="PMID:33135153"} ! photosensitive epilepsy
is_a: MONDO:0020072 {source="PMID:34653789"} ! childhood-onset epilepsy syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6621" xsd:anyURI

[Term]
id: MONDO:0100530
name: myopathy caused by variation in CRPPA
def: "Any myopathy in which the cause of the disease is a variation in the CRPPA gene." [https://clinicalgenome.org/affiliation/40151/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/40151/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 ! CRPPA
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6852" xsd:anyURI

[Term]
id: MONDO:0100531
name: Emery-Dreifuss muscular dystrophy 1, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EDMD1" EXACT ABBREVIATION [DOID:0070246, MONDO:Lexical, OMIM:310300, Orphanet:98863]
synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:310300, OMIM:genemap2]
synonym: "EMD1" EXACT ABBREVIATION [DOID:0070246]
synonym: "Emery-Dreifuss muscular dystrophy 1, X-linked" EXACT [OMIM:310300]
synonym: "Humeroperoneal neuromuscular disease" RELATED [OMIM:310300]
synonym: "humeroperoneal neuromuscular disease" EXACT [DOID:0070246]
synonym: "Humeroperoneal neuromuscular disease, formerly" RELATED [OMIM:310300]
synonym: "scapuloperoneal syndrome, X-linked" EXACT [DOID:0070246, OMIM:310300]
synonym: "scapuloperoneal syndrome, X-linked, formerly" RELATED [OMIM:310300]
xref: DOID:0070246 {source="MONDO:equivalentTo"}
xref: MEDGEN:1720295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C168730 {source="MONDO:equivalentTo"}
xref: OMIM:310300 {source="MONDO:equivalentTo"}
xref: UMLS:C5243475 {source="MEDGEN:1720295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010680 {source="OMIM:310300"} ! X-linked Emery-Dreifuss muscular dystrophy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6738" xsd:anyURI

[Term]
id: MONDO:0100532
name: blepharospasm, benign essential, susceptibility to
xref: MEDGEN:1640286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606798 {source="MONDO:equivalentTo"}
xref: UMLS:C4692845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640286"}
is_a: MONDO:0020573 {source="OMIM:606798"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3026 ! DRD5
intersection_of: predisposes_towards MONDO:0011728 ! benign essential blepharospasm
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6932" xsd:anyURI

[Term]
id: MONDO:0100533
name: hemorrhage, intracerebral, susceptibility to
def: "An inherited susceptibility or predisposition to developing intracerebral hemorrhage." [MONDO:patterns/inherited_susceptibility]
synonym: "ICH" EXACT ABBREVIATION [OMIM:614519]
xref: MEDGEN:482735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614519 {source="MONDO:equivalentTo"}
xref: UMLS:C3281105 {source="MEDGEN:482735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:614519", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0013792 {source="OMIM:614519"} ! intracerebral hemorrhage
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7038" xsd:anyURI

[Term]
id: MONDO:0100534
name: SMARCB1-deficient kidney medullary carcinoma
def: "A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney." [NCIT:C189247]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1817235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C189247 {source="MONDO:equivalentTo"}
xref: UMLS:C5708330 {source="MEDGEN:1817235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006260 {source="NCIT:C189247"} ! kidney medullary carcinoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7099" xsd:anyURI

[Term]
id: MONDO:0100535
name: hypodontia/oligodontia with orofacial cleft
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:369662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:106600 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1970118 {source="MEDGEN:369662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005486 {source="OMIM:106600"} ! tooth agenesis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7034" xsd:anyURI

[Term]
id: MONDO:0100536
name: tooth agenesis, selective, with orofacial cleft
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:409991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:106600 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1970117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409991"}
is_a: MONDO:0005486 {source="OMIM:106600"} ! tooth agenesis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7034" xsd:anyURI

[Term]
id: MONDO:0100537
name: plasminogen deficiency, type II
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "plasminogen deficiency, type 2" EXACT [OMIM:217090]
xref: OMIM:217090 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0002242 {source="OMIM:217090"} ! coagulation protein disease
is_a: MONDO:0003847 {source="OMIM:217090"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9071 {source="OMIM:217090"} ! PLG
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7100" xsd:anyURI

[Term]
id: MONDO:0100538
name: dysplasminogenemia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:904685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:217090 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4225445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904685"}
is_a: MONDO:0002242 {source="OMIM:217090"} ! coagulation protein disease
is_a: MONDO:0003847 {source="OMIM:217090"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9071 {source="OMIM:217090"} ! PLG
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7100" xsd:anyURI

[Term]
id: MONDO:0100539
name: hemiplegic migraine-developmental and epileptic encephalopathy spectrum
def: "A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families." [https://clinicalgenome.org/affiliation/40005/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0018925 {source="https://clinicalgenome.org/affiliation/40005/"} ! familial or sporadic hemiplegic migraine
is_a: MONDO:0100062 {source="https://clinicalgenome.org/affiliation/40005/"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7195" xsd:anyURI

[Term]
id: MONDO:0100540
name: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
def: "A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes." [https://clinicalgenome.org/affiliation/40130/, PMID:19666519, PMID:23020118, PMID:25937001, PMID:28049534, PMID:29653232, PMID:31301121, PMID:35595280]
synonym: "GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" EXACT [https://clinicalgenome.org/affiliation/40130/]
is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 {source="https://clinicalgenome.org/affiliation/40130/"} ! GATA6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7218" xsd:anyURI

[Term]
id: MONDO:0100541
name: GATA5-related congenital heart defects
def: "A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal." [https://clinicalgenome.org/affiliation/40130/, PMID:22641149, PMID:22961344, PMID:23031282, PMID:23289003, PMID:24638895]
synonym: "GATA5 related congenital heart defects" EXACT [https://clinicalgenome.org/affiliation/40130/]
is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7242" xsd:anyURI

[Term]
id: MONDO:0100542
name: clonal hematopoiesis
def: "A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage." [NCIT:C162188, PMID:34215849]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1694554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C162188 {source="MONDO:equivalentTo"}
xref: UMLS:C5206406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1694554"}
is_a: MONDO:0060782 {source="NCIT:C162188"} ! premalignant hematological system disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7137" xsd:anyURI

[Term]
id: MONDO:0100543
name: clonal hematopoiesis of indeterminate potential
def: "A precancerous condition characterized by the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential." [NCIT:C158547]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1681237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4761612 {source="MEDGEN:1681237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100542 {source="NCIT:C158547"} ! clonal hematopoiesis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7137" xsd:anyURI

[Term]
id: MONDO:0100544
name: age-related clonal hematopoiesis
def: "A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers." [NCIT:C155821]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ARCH" EXACT ABBREVIATION [NCIT:C155821]
xref: MEDGEN:1670618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4722404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670618"}
is_a: MONDO:0100542 {source="NCIT:C155821"} ! clonal hematopoiesis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7137" xsd:anyURI

[Term]
id: MONDO:0100545
name: hereditary neurological disease
def: "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles." [https://orcid.org/0000-0002-0736-9199]
synonym: "neurogenetic disease" EXACT [https://orcid.org/0000-0002-0736-9199]
is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-0736-9199"} ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5952" xsd:anyURI

[Term]
id: MONDO:0100546
name: hereditary neuromuscular disease
def: "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness." [https://orcid.org/0000-0002-0736-9199]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019056 {source="https://orcid.org/0000-0002-0736-9199"} ! neuromuscular disease
intersection_of: MONDO:0019056 ! neuromuscular disease
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5952" xsd:anyURI

[Term]
id: MONDO:0100547
name: cardiogenetic disease
def: "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system." [https://orcid.org/0000-0002-0736-9199, PMID:32341133]
synonym: "hereditary heart disease" EXACT [https://orcid.org/0000-0002-0736-9199]
is_a: MONDO:0005267 {source="PMID:32341133", source="https://orcid.org/0000-0002-0736-9199"} ! heart disorder
intersection_of: MONDO:0005267 ! heart disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5952" xsd:anyURI

[Term]
id: MONDO:0100548
name: SERAC1-related neurological disorder
def: "Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene." [https://orcid.org/0000-0002-9698-992X, PMID:28916646, PMID:29686941, PMID:37090937]
is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-9698-992X"} ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21061 ! SERAC1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7274" xsd:anyURI

[Term]
id: MONDO:0100549
name: focal nodular hyperplasia
def: "A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar." [PMID:23396642, PMID:35687520]
synonym: "FNH" EXACT ABBREVIATION [https://orcid.org/0000-0001-8134-3037]
synonym: "focal nodular hyperplasia of the liver" EXACT [NCIT:C4916]
synonym: "hepatic focal nodular hyperplasia" EXACT [https://orcid.org/0000-0001-8134-3037]
xref: NCIT:C4916
is_a: MONDO:0859689 {source="https://orcid.org/0000-0001-8134-3037"} ! hepatobiliary benign neoplasm
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7300" xsd:anyURI

[Term]
id: MONDO:0100550
name: orbital myositis
def: "A rare form of myositis that affects only the orbital muscles." [NCIT:C117296]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ocular myositis" EXACT [https://orcid.org/0000-0002-3458-4839]
xref: ICD9:376.12 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MEDGEN:389999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C117296 {source="MONDO:equivalentTo"}
xref: SCTID:80698001 {source="MONDO:equivalentTo"}
xref: UMLS:C2350476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:389999"}
is_a: MONDO:0021167 {source="NCIT:C117296", source="https://orcid.org/0000-0001-5208-3432"} ! myositis disease
intersection_of: MONDO:0021167 ! myositis disease
intersection_of: disease_has_location UBERON:0001601 ! extra-ocular muscle
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7257" xsd:anyURI

[Term]
id: MONDO:0100551
name: SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss
def: "A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly." [https://clinicalgenome.org/affiliation/40006/]
subset: inferred_rare
subset: rare
synonym: "AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss" EXACT [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28762 {source="https://clinicalgenome.org/affiliation/40006/"} ! AFG2B
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7317" xsd:anyURI

[Term]
id: MONDO:0100552
name: ATTRV30M amyloidosis
def: "A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy." [Orphanet:85447]
subset: gard_rare {source="GARD:16754", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:85447"}
subset: rare
synonym: "amyloidosis transthyretin related" RELATED [GARD:0000656]
synonym: "ATTRV30M-related amyloidosis" EXACT [GARD:0000656, Orphanet:85447]
synonym: "familial amyloid polyneuropathy type I" RELATED [GARD:0000656]
synonym: "familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type" RELATED [GARD:0000656]
synonym: "hereditary ATTRV30M-related amyloidosis" EXACT [Orphanet:85447]
synonym: "transthyretin amyloid neuropathy" RELATED [GARD:0000656]
synonym: "transthyretin amyloid polyneuropathy" RELATED [GARD:0000656]
synonym: "TTR amyloid neuropathyy" RELATED [GARD:0000656]
xref: GARD:16754 {source="MONDO:GARD"}
xref: Orphanet:85447 {source="MONDO:equivalentTo"}
is_a: MONDO:0007100 {source="Orphanet:85447"} ! familial amyloid neuropathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7330" xsd:anyURI

[Term]
id: MONDO:0100553
name: OPTN-related open angle glaucoma
def: "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene." [https://clinicalgenome.org/affiliation/40077/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "glaucoma 1, open angle, E" EXACT [OMIM:137760]
synonym: "OPTN-related open angle glaucoma" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/]
xref: MEDGEN:87389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:137760 {source="MONDO:equivalentTo"}
xref: UMLS:C0339573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87389"}
is_a: MONDO:0005338 {source="https://clinicalgenome.org/affiliation/40077/"} ! open-angle glaucoma
intersection_of: MONDO:0005338 ! open-angle glaucoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17142 ! OPTN
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6781" xsd:anyURI

[Term]
id: MONDO:0100554
name: hereditary narcolepsy
def: "An instance of narcolepsy that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:161400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"}
is_a: MONDO:0021107 {source="DOID:8986", source="MESH:D009290/inferred", source="NCIT:C84489"} ! narcolepsy
intersection_of: MONDO:0021107 ! narcolepsy
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:161400"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI

[Term]
id: MONDO:0100555
name: IgA nephropathy, susceptibility to
def: "An inherited susceptibility or predisposition to developing IgA glomerulonephritis." [MONDO:patterns/inherited_susceptibility]
xref: OMIMPS:161950 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="OMIMPS:161950"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0005342 ! IgA glomerulonephritis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:161950"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6276" xsd:anyURI

[Term]
id: MONDO:0100556
name: PRRT2-associated paroxysmal movement disorder
def: "A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes." [https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references, PMID:32916768, PMID:33746883]
is_a: MONDO:0005395 {source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! movement disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! PRRT2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI

[Term]
id: MONDO:0100557
name: RBFOX2-related congenital heart disorder
def: "Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene." [https://clinicalgenome.org/affiliation/40130/, PMID:21925157, PMID:24151077, PMID:26785492, PMID:28991257, PMID:31241461, PMID:31778749, PMID:35137168, PMID:36198703]
is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease
intersection_of: MONDO:0005453 ! congenital heart disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9906 ! RBFOX2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7515" xsd:anyURI

[Term]
id: MONDO:0100558
name: RNU4ATAC spectrum disorder
def: "A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome." [https://clinicalgenome.org/affiliation/40065/]
is_a: MONDO:0002254 {source="https://clinicalgenome.org/affiliation/40065/"} ! syndromic disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34016 {source="https://clinicalgenome.org/affiliation/40065/"} ! RNU4ATAC
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7497" xsd:anyURI

[Term]
id: MONDO:0100559
name: ALG14-congenital disorder of glycosylation
def: "Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins." [https://clinicalgenome.org/affiliation/40135/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ALG14-CDG" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40135/]
is_a: MONDO:0015286 {source="https://clinicalgenome.org/affiliation/40135/"} ! congenital disorder of glycosylation
intersection_of: MONDO:0015286 ! congenital disorder of glycosylation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 ! ALG14
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI

[Term]
id: MONDO:0100560
name: ligneous conjunctivitis
def: "A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency." [OMIM:217090, PMID:12850227]
xref: MEDGEN:226895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:217090 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1274789 {source="MEDGEN:226895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006170 {source="OMIM:217090"} ! conjunctival disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7224" xsd:anyURI

[Term]
id: MONDO:0100561
name: HBA1-related alpha thalassemia spectrum
def: "Mild microcytic anemia caused by biallelic variation in the HBA1 gene." [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alpha-thalassemia trait" RELATED [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
is_a: MONDO:0100565 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! monogenic alpha thalassemia spectrum
intersection_of: MONDO:0011399 ! alpha thalassemia spectrum
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4823 ! HBA1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7561" xsd:anyURI

[Term]
id: MONDO:0100562
name: HBA2-related alpha thalassemia spectrum
def: "Mild microcytic anemia caused by biallelic variation in the HBA2 gene." [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alpha-thalassemia trait" RELATED [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
is_a: MONDO:0100565 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! monogenic alpha thalassemia spectrum
intersection_of: MONDO:0011399 ! alpha thalassemia spectrum
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4824 ! HBA2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7561" xsd:anyURI

[Term]
id: MONDO:0100563
name: digenic alpha thalassemia spectrum
def: "An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0011399 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! alpha thalassemia spectrum
relationship: has_characteristic MONDO:0021152 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7561" xsd:anyURI

[Term]
id: MONDO:0100564
name: HBA1; HBA2-related digenic alpha thalassemia spectrum
def: "Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome)." [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "alpha-thalassemia trait" RELATED [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/]
is_a: MONDO:0100563 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! digenic alpha thalassemia spectrum
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7561" xsd:anyURI

[Term]
id: MONDO:0100565
name: monogenic alpha thalassemia spectrum
def: "An instance of alpha thalessemia spectrum that is caused by an inherited monogenomic modification in an individual." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0011399 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! alpha thalassemia spectrum
relationship: has_characteristic MONDO:0021152 {source="https://www.clinicalgenome.org/affiliation/40026/", source="https://www.clinicalgenome.org/affiliation/50052/", source="https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7561" xsd:anyURI

[Term]
id: MONDO:0100566
name: myoclonic epilepsy in infancy
subset: gard_rare {source="GARD:19086", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:86909"}
subset: orphanet_rare {source="Orphanet:86909"}
subset: rare
synonym: "benign myoclonic epilepsy of infancy" EXACT [Orphanet:86909]
synonym: "benign myoclonus epilepsy of infancy" EXACT [Orphanet:86909]
xref: GARD:19086 {source="MONDO:GARD"}
xref: ICD10CM:G40.3 {source="Orphanet:86909", source="Orphanet:86909/attributed", source="Orphanet:86909/ntbt"}
xref: MEDGEN:148242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:86909 {source="MONDO:equivalentTo"}
xref: UMLS:C0751120 {source="MEDGEN:148242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100022 {source="https://orcid.org/0000-0001-5208-3432", source="https://www.epilepsydiagnosis.org/syndrome/mei-overview.html"} ! neonatal/infantile epilepsy syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI

[Term]
id: MONDO:0100567
name: hereditary angioedema with normal C1Inh
def: "A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation." [Orphanet:528647]
subset: gard_rare {source="GARD:22195", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:528647"}
subset: orphanet_rare {source="Orphanet:528647"}
subset: rare
synonym: "HAE with normal C1 inhibitor" EXACT [Orphanet:528647]
synonym: "HAE with normal C1Inh" EXACT [Orphanet:528647]
synonym: "hereditary angioedema with normal C1 inhibitor" EXACT [Orphanet:528647]
synonym: "hereditary angioneurotic edema with normal C1 inhibitor" EXACT [Orphanet:528647]
synonym: "hereditary angioneurotic edema with normal C1Inh" EXACT [Orphanet:528647]
xref: GARD:22195 {source="MONDO:GARD"}
xref: MEDGEN:743231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:528647 {source="MONDO:equivalentTo"}
xref: UMLS:C1960459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743231"}
is_a: MONDO:0019623 ! hereditary angioedema
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7581" xsd:anyURI

[Term]
id: MONDO:0100568
name: obsolete Mycobacterium tuberculosis, protection against
xref: OMIM:607948 {source="MONDO:includedEntryInOMIM"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeTrait"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7616" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0100569
name: ACD-related short telomere syndrome
def: "A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance." [https://orcid.org/0009-0007-0138-2054]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0800469 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD-related telomere biology disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI

[Term]
id: MONDO:0100570
name: ACD-related long telomere syndrome
def: "A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma." [https://orcid.org/0009-0007-0138-2054]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0800469 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD-related telomere biology disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI

[Term]
id: MONDO:0100571
name: CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
def: "Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization." [https://clinicalgenome.org/affiliation/40006/]
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2514 {source="https://clinicalgenome.org/affiliation/40006/"} ! CTNNB1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7572" xsd:anyURI

[Term]
id: MONDO:0100572
name: MTOR-related overgrowth spectrum
def: "Any overgrowth syndrome in which the cause of the disease is a pathogenic gain-of-function variants in the MTOR gene. The variants can be germline or somatic." [https://clinicalgenome.org/affiliation/50020/, PMID:27860216, PMID:33833411, PMID:35163267]
subset: inferred_rare
subset: rare
is_a: MONDO:0019716 {source="https://clinicalgenome.org/affiliation/50020/"} ! overgrowth syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3942 {source="https://clinicalgenome.org/affiliation/50020/"} ! MTOR
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7717" xsd:anyURI

[Term]
id: MONDO:0200000
name: uterine ligament adenosarcoma
def: "An extremely rare adenosarcoma that arises from the uterine ligament." [NCIT:C102570]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "adenosarcoma of uterine ligament" EXACT []
synonym: "uterine ligament adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C102570]
xref: NCIT:C102570 {source="MONDO:equivalentTo"}
is_a: MONDO:0003612 {source="NCIT:C102570"} ! uterine ligament cancer
is_a: MONDO:0005636 {source="NCIT:C102570"} ! adenosarcoma
intersection_of: MONDO:0005636 ! adenosarcoma
intersection_of: disease_has_location UBERON:0036262 ! uterine ligament

[Term]
id: MONDO:0200001
name: obsolete chromate resistance
synonym: "CHR" RELATED ABBREVIATION [OMIM:118840]
synonym: "CHROMATE RESISTANCE" RELATED [OMIM:118840]
xref: OMIM:118840 {source="MONDO:obsoleteEquivalent"}
is_obsolete: true

[Term]
id: MONDO:0300000
name: SSR3-CDG
def: "A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure." [PMID:27010055, PMID:28484880]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SSR3 congenital disorder of glycosylation" EXACT []
synonym: "SSR3 deficiency" EXACT []
is_a: MONDO:0005500 ! congenital disorder of glycosylation type I
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-9969-8610
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0003-2338-2550

[Term]
id: MONDO:0400000
name: small intestinal bacterial overgrowth
def: "The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity." [PMID:21960820, PMID:23614961]
synonym: "SIBO" EXACT ABBREVIATION []
xref: MEDGEN:1708316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3160854 {source="MEDGEN:1708316", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 ! infectious disease
relationship: disease_has_location UBERON:0002108 ! small intestine

[Term]
id: MONDO:0400002
name: calcium-alkali syndrome
def: "The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency." [PMID:24288027]
synonym: "milk-alkali syndrome" EXACT []
xref: MEDGEN:6403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0026141 {source="MONDO:equivalentTo", source="MEDGEN:6403", source="MONDO:MEDGEN"}
is_a: MONDO:0005557 ! calcium metabolic disease

[Term]
id: MONDO:0400003
name: skeletal fluorosis
def: "A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain." [PMID:3295994]
synonym: "fluorosis of the skeleton" EXACT []
is_a: MONDO:0005066 ! metabolic disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-7463-6306

[Term]
id: MONDO:0400004
name: phrynoderma
def: "Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks." [doi:10.4103/2319-7250.175657, NCIT:C112827, PMID:21965845]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:83101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0334013 {source="MEDGEN:83101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019268 ! epidermal disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-7463-6306

[Term]
id: MONDO:0400005
name: refeeding syndrome
def: "Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally)." [PMID:18583681, PMID:2109122]
xref: MEDGEN:167819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D055677 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: UMLS:C0860549 {source="MEDGEN:167819", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005137 ! nutritional disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-7463-6306

[Term]
id: MONDO:0400006
name: botryomycosis
def: "A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy." [PMID:22696742]
synonym: "bacterial pseudomycosis" EXACT [PMID:24082199]
synonym: "pyoderma vegetans" EXACT [PMID:24082199]
xref: MEDGEN:754315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MPATH:859 {source="MONDO:equivalentTo"}
xref: UMLS:C2937266 {source="MONDO:equivalentTo", source="MEDGEN:754315", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="PMID:24082199"} ! bacterial infectious disease
property_value: http://purl.org/dc/elements/1.1/date "2021-05-10T18:49:42Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-7463-6306

[Term]
id: MONDO:0500000
name: episodic angioedema with eosinophilia
def: "A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns." [GARD:0013029, PMID:25527564]
subset: gard_rare {source="GARD:13029", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "EAE" EXACT ABBREVIATION [GARD:0013029]
synonym: "Gleich syndrome" EXACT [GARD:0013029]
synonym: "Gleich's syndrome" EXACT [GARD:0013029]
xref: GARD:13029 {source="MONDO:GARD"}
xref: MEDGEN:725561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1304198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:725561"}
is_a: MONDO:0015691 ! hypereosinophilic syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5839-2535

[Term]
id: MONDO:0500018
name: acute fibrinous and organizing pneumonia
def: "A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra." [PMID:31076239]
synonym: "AFOP" EXACT ABBREVIATION [PMID:31076239]
is_a: MONDO:0005249 {source="https://orcid.org/0000-0001-5208-3432"} ! pneumonia
relationship: has_characteristic PATO:0000389 ! acute
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5839-2535

[Term]
id: MONDO:0550003
name: SEC61B-related polycystic liver disease
def: "Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene." [PMID:29038287]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0000447 {source="PMID:29038287"} ! autosomal dominant polycystic liver disease
intersection_of: MONDO:0000447 ! autosomal dominant polycystic liver disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16993 ! SEC61B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1882" xsd:anyURI

[Term]
id: MONDO:0600001
name: glutaminase deficiency
def: "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene." [PMID:30575854, PMID:30970188]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: mondo_rare {source="PMID:30575854", source="PMID:30970188"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "glutaminase deficiency" EXACT CLINGEN_LABEL []
is_a: MONDO:0017352 {source="PMID:30575854", source="PMID:30970188"} ! disorder of glutamine metabolism
is_a: MONDO:0019052 {source="PMID:30575854", source="PMID:30970188"} ! inborn errors of metabolism
relationship: has_characteristic MONDO:0021136 {source="PMID:30575854", source="PMID:30970188"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4331 {source="PMID:30575854", source="PMID:30970188"} ! GLS
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600002
name: hemorrhagic fever
def: "An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness." [https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html, https://www.mayoclinic.org/diseases-conditions/viral-hemorrhagic-fevers/symptoms-causes/syc-20351260?utm_source=Google&utm_medium=abstract&utm_content=Viral-hemorrhagic-fever&utm_campaign=Knowledge-panel]
subset: otar {source="MONDO:OTAR"}
synonym: "haemorrhagic fever" EXACT [http://www.emro.who.int/health-topics/haemorrhagic-fevers-viral/]
xref: NCIT:C36169 {source="MONDO:equivalentTo"}
is_a: MONDO:0005550 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html", source="https://www.mayoclinic.org/diseases-conditions/viral-hemorrhagic-fevers/symptoms-causes/syc-20351260?utm_source=Google&utm_medium=abstract&utm_content=Viral-hemorrhagic-fever&utm_campaign=Knowledge-panel"} ! infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600003
name: bacterial hemorrhagic fever
def: "A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus." [https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html]
subset: gard_rare {source="MONDO:GARD"}
subset: mondo_rare {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"}
subset: rare
synonym: "bacterial haemorrhagic fever" EXACT [https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html]
synonym: "haemorrhagic fever, bacterial" EXACT [https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html]
is_a: MONDO:0600002 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! hemorrhagic fever
intersection_of: MONDO:0600002 ! hemorrhagic fever
intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria
relationship: has_characteristic MONDO:0021136 {source="https://science.jrank.org/pages/3289/Hemorrhagic-Fevers-Diseases.html"} ! rare

[Term]
id: MONDO:0600005
name: venom allergy
def: "An allergic disease involving venom." [PMID:26154789]
synonym: "IgE-mediated venom hypersensitivity" EXACT [PMID:26154789]
synonym: "venom hypersensitivity" EXACT [PMID:26154789]
xref: MEDGEN:1387536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4510560 {source="MEDGEN:1387536", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005271 {source="PMID:26154789"} ! allergic disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/158" xsd:anyURI

[Term]
id: MONDO:0600008
name: cytokine release syndrome
def: "A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening." [NCIT:C78251, PMID:24876563]
synonym: "CRS" EXACT ABBREVIATION [PMID:32291137]
synonym: "cytokine storm" EXACT [PMID:32291137]
synonym: "cytokine-associated toxicity" EXACT [PMID:24876563]
xref: MEDGEN:215297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000080424 {source="MONDO:equivalentTo"}
xref: NCIT:C78251 {source="MONDO:equivalentTo"}
xref: UMLS:C0948245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:215297"}
is_a: MONDO:0005046 {source="PMID:24876563", source="PMID:32291137"} ! immune system disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600009
name: severe hypophosphatasia
def: "Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period." [https://www.clinicalgenome.org/affiliation/40065/, PMID:32973344]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0018570 {source="PMID:32973344", source="https://www.clinicalgenome.org/affiliation/40065/"} ! hypophosphatasia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600010
name: moderate hypophosphatasia
def: "Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood." [https://www.clinicalgenome.org/affiliation/40065/, PMID:32973344]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0018570 {source="PMID:32973344", source="https://www.clinicalgenome.org/affiliation/40065/"} ! hypophosphatasia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600011
name: mild hypophosphatasia
def: "Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood." [https://www.clinicalgenome.org/affiliation/40065/, PMID:32973344]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "attenuated hypophosphatasia" EXACT [https://www.clinicalgenome.org/affiliation/40065/, PMID:32973344]
is_a: MONDO:0018570 {source="PMID:32973344", source="https://www.clinicalgenome.org/affiliation/40065/"} ! hypophosphatasia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600014
name: alveolar capillary dysplasia without misalignment of pulmonary veins
def: "A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins." [https://doi.org/10.1016/B978-0-323-54605-8.00003-9, https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0003-0113-912X, PMID:33766794]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACD without misalignment" EXACT ABBREVIATION []
is_a: MONDO:0020295 {source="https://orcid.org/0000-0003-0113-912X"} ! congenital pulmonary veins anomaly
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3026" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/3186" xsd:anyURI

[Term]
id: MONDO:0600016
name: acinar dysplasia
def: "A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4." [https://orcid.org/0000-0003-0113-912X, PMID:31641660]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AcDys" EXACT ABBREVIATION [https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:835348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3872820 {source="MEDGEN:835348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3188" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0600017
name: acinar dysplasia caused by mutation in FGF10
def: "Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene." [https://orcid.org/0000-0003-0113-912X, MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "FGF10 acinar dysplasia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "FGF10 related acinar dysplasia" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0600016 {source="https://orcid.org/0000-0003-0113-912X"} ! acinar dysplasia
intersection_of: MONDO:0600016 ! acinar dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3666 ! FGF10
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3188" xsd:anyURI

[Term]
id: MONDO:0600018
name: acinar dysplasia caused by mutation in FGFR2
def: "Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene." [https://orcid.org/0000-0003-0113-912X, MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "FGFR2 acinar dysplasia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "FGFR2 related acinar dysplasia" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0600016 {source="https://orcid.org/0000-0003-0113-912X"} ! acinar dysplasia
intersection_of: MONDO:0600016 ! acinar dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 ! FGFR2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3188" xsd:anyURI

[Term]
id: MONDO:0600019
name: acinar dysplasia caused by mutation in TBX4
def: "Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." [https://orcid.org/0000-0003-0113-912X, MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "TBX4 acinar dysplasia" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "TBX4 related acinar dysplasia" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0600016 {source="https://orcid.org/0000-0003-0113-912X"} ! acinar dysplasia
intersection_of: MONDO:0600016 ! acinar dysplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11603 ! TBX4
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3188" xsd:anyURI

[Term]
id: MONDO:0600023
name: idiopathic inflammatory myopathy
def: "Idiopathic form of inflammatory myopathy." [MONDO:patterns/idiopathic]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "idiopathic myositis" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: MEDGEN:148290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D009220
xref: NCIT:C116796 {source="MONDO:equivalentTo"}
xref: Orphanet:98482
xref: SCTID:702380008 {source="MONDO:equivalentTo"}
xref: UMLS:C0751356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148290"}
is_a: MONDO:0021167 ! myositis disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3143" xsd:anyURI

[Term]
id: MONDO:0600024
name: familial idiopathic inflammatory myopathy
def: "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "familial idiopathic myositis" EXACT [OMIM:160750]
xref: MEDGEN:854861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C000598744 {source="MONDO:equivalentTo"}
xref: OMIM:160750 {source="MONDO:equivalentTo"}
xref: UMLS:C3888318 {source="MEDGEN:854861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0600023 {source="https://orcid.org/0000-0001-5208-3432"} ! idiopathic inflammatory myopathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600025
name: hydrosalpinx
def: "Fluid accumulation and dilatation of the fallopian tube due to tubal blockage." [NCIT:C142886, PMID:30824209]
synonym: "blocked fallopian tube" EXACT [https://fertilitynj.com/infertility/female-infertility/structural-causes/hydrosalpinx/, https://orcid.org/0000-0002-1196-4871]
synonym: "fallopian tube obstruction" EXACT [https://orcid.org/0000-0002-1196-4871, Wikipedia:Fallopian_tube_obstruction]
xref: MEDGEN:526227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C142886 {source="MONDO:equivalentTo"}
xref: UMLS:C0221376 {source="MEDGEN:526227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002156 {source="PMID:30824209", source="https://orcid.org/0000-0002-1196-4871"} ! fallopian tube disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3249" xsd:anyURI

[Term]
id: MONDO:0600026
name: vanishing lung syndrome
def: "A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae." [PMID:32923201]
synonym: "idiopathic giant bullous emphysema" EXACT [PMID:32923201]
synonym: "VLS" EXACT ABBREVIATION [PMID:32923201]
is_a: MONDO:0005275 {source="PMID:32923201"} ! lung disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600027
name: congenital right-sided heart lesions
def: "Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth." [EFO:0600032]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019512 {source="EFO:0600032"} ! congenital heart malformation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600029
name: restrictive pulmonary disease
def: "Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough." [NCIT:C91762]
synonym: "restrictive lung disease" EXACT [NCIT:C91762]
synonym: "Restrictive lung disease (disorder)" EXACT [SCTID:36485005]
xref: ICD10CM:J98.4 {source="SCTID:36485005"}
xref: MEDGEN:43209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C91762 {source="MONDO:equivalentTo"}
xref: SCTID:36485005 {source="MONDO:equivalentTo"}
xref: UMLS:C0085581 {source="MEDGEN:43209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005275 ! lung disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0600030
name: B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)
def: "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults." [NCIT:C80347]
subset: gard_rare {source="GARD:22348", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:585956"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "B acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 []
synonym: "B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [NCIT:C80347]
synonym: "B lymphoblastic leukaemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT OMO:0003005 []
synonym: "B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT [SCTID:450956008]
synonym: "B-acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 []
synonym: "B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [NCIT:C80347]
synonym: "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)" EXACT [Orphanet:585956]
synonym: "B-lymphoblastic leukemia/lymphoma with TCF3-PBX1" EXACT [DOID:0080649]
xref: DOID:0080649 {source="NCIT:C80347", source="MONDO:equivalentTo"}
xref: GARD:22348 {source="MONDO:GARD"}
xref: ICD10CM:C91.0 {source="Orphanet:585956"}
xref: MEDGEN:396324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C80347 {source="MONDO:equivalentTo"}
xref: Orphanet:585956 {source="MONDO:equivalentTo"}
xref: SCTID:450956008 {source="MONDO:equivalentTo"}
xref: UMLS:C2698315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396324"}
is_a: MONDO:0004947 {source="https://orcid.org/0000-0001-5208-3432"} ! B-cell acute lymphoblastic leukemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic PATO:0000389 ! acute
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025

[Term]
id: MONDO:0700000
name: ALG9-associated autosomal dominant polycystic kidney disease
def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "ALG9 autosomal dominant polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ALG9 related autosomal dominant polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ALG9-associated ADPKD" EXACT [https://search.clinicalgenome.org/kb/gene-validity/CGGV\:assertion_38d817af-0a28-4453-a00f-ffccadbd9936-2020-08-28T153435.272Z]
synonym: "ALG9-associated autosomal dominant polycystic kidney disease" EXACT []
synonym: "Autosomal Dominant Polycystic Kidney Disease - ALG9" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40066/]
synonym: "autosomal dominant polycystic kidney disease caused by mutation in ALG9" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0004691 {source="PMID:31395617", source="https://github.com/monarch-initiative/mondo/issues/2726"} ! autosomal dominant polycystic kidney disease
intersection_of: MONDO:0004691 ! autosomal dominant polycystic kidney disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15672 ! ALG9
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI

[Term]
id: MONDO:0700001
name: shrinking lung syndrome
def: "A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient." [https://orcid.org/0000-0003-0113-912X, PMID:21686610, PMID:24836585]
comment: Chest x-ray often shows small but clear lungs. It is mostly presented in combination with diaphragmatic elevation and occasional basal atelectasis.
synonym: "shrinking of the lung" BROAD [PMID:24836585]
synonym: "SLS" EXACT ABBREVIATION [PMID:24836585]
synonym: "small lungs" RELATED [PMID:24836585]
xref: MEDGEN:743060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1960277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743060"}
is_a: MONDO:0005275 {source="PMID:24836585", source="https://orcid.org/0000-0003-0113-912X"} ! lung disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700002
name: ATP1A3-associated neurological disorder
def: "Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3." [MONDO:patterns/disease_series_by_gene, PMID:20301295, PMID:31178018, PMID:33762331]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
synonym: "ATP1A3 neurological disorder" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "ATP1A3 related neurological disorder" EXACT CLINGEN_LABEL [MONDO:patterns/disease_series_by_gene]
synonym: "neurological disorder caused by mutation in ATP1A3" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0005071 {xref="PMID:20301295", xref="PMID:31178018", xref="PMID:33762331"} ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/801 ! ATP1A3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700003
name: obstetric disorder
def: "Disorder associated with pregnancy, childbirth, and puerperium." [https://orcid.org/0000-0002-4142-7153]
subset: harrisons_view
subset: otar {source="MONDO:OTAR"}
subset: rare_grouping
xref: ICD10CM:O94-O9A {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
is_a: MONDO:0000001 ! disease
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease
union_of: MONDO:0024575 ! pregnancy disorder
union_of: MONDO:0044013 ! puerperal disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700004
name: idiopathic vs non-idiopathic
def: "A disease characteristic in which the cause of the disease is known or unknown." [https://github.com/monarch-initiative/mondo/issues/3177, https://orcid.org/0000-0002-4142-7153]
is_a: MONDO:0021125 {source="https://github.com/monarch-initiative/mondo/issues/3177", source="https://orcid.org/0000-0002-4142-7153"} ! disease characteristic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700005
name: idiopathic
def: "A disease characteristic in which the disease has an uncertain or unknown cause." [https://github.com/monarch-initiative/mondo/issues/3177, https://orcid.org/0000-0002-4142-7153]
is_a: MONDO:0700004 {source="https://github.com/monarch-initiative/mondo/issues/3177", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic vs non-idiopathic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700006
name: non-idiopathic
def: "A disease characteristic in which the disease has a known cause." [https://github.com/monarch-initiative/mondo/issues/3177, https://orcid.org/0000-0002-4142-7153]
is_a: MONDO:0700004 {source="https://github.com/monarch-initiative/mondo/issues/3177", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic vs non-idiopathic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700007
name: idiopathic disease
def: "A disease or disorder for which the cause is of uncertain or unknown." [https://orcid.org/0000-0002-4142-7153, MONDO:patterns/idiopathic]
synonym: "idiopathic disorder" EXACT [https://orcid.org/0000-0002-4142-7153]
xref: MEDGEN:548250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0277553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:548250"}
is_a: MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/3169", source="https://orcid.org/0000-0002-4142-7153"} ! disease
intersection_of: MONDO:0700096 ! human disease
intersection_of: has_characteristic MONDO:0700005 ! idiopathic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3169" xsd:anyURI

[Term]
id: MONDO:0700008
name: chromosome 1 disorder
def: "Chromosomal disorder in which chromosome 1 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr1 ! chromosome 1 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700009
name: chromosome 2 disorder
def: "Chromosomal disorder in which chromosome 2 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr2 ! chromosome 2 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700010
name: chromosome 3 disorder
def: "Chromosomal disorder in which chromosome 3 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr3 ! chromosome 3 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700011
name: chromosome 4 disorder
def: "Chromosomal disorder in which chromosome 4 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr4 ! chromosome 4 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700012
name: chromosome 5 disorder
def: "Chromosomal disorder in which chromosome 5 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr5 ! chromosome 5 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700013
name: chromosome 6 disorder
def: "Chromosomal disorder in which chromosome 6 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr6 ! chromosome 6 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700014
name: chromosome 7 disorder
def: "Chromosomal disorder in which chromosome 7 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr7 ! chromosome 7 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700015
name: chromosome 8 disorder
def: "Chromosomal disorder in which chromosome 8 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "anomaly of chromosome pair 8" EXACT [SCTID:48082007, UMLS:C0265418]
xref: MEDGEN:539233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:48082007 {source="MONDO:equivalentTo"}
xref: UMLS:C0265418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539233"}
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700016
name: chromosome 9 disorder
def: "Chromosomal disorder in which chromosome 9 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr9 ! chromosome 9 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700017
name: chromosome 10 disorder
def: "Chromosomal disorder in which chromosome 10 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr10 ! chromosome 10 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700018
name: chromosome 11 disorder
def: "Chromosomal disorder in which chromosome 11 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr11 ! chromosome 11 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700019
name: chromosome 12 disorder
def: "Chromosomal disorder in which chromosome 12 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr12 ! chromosome 12 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700020
name: chromosome 13 disorder
def: "Chromosomal disorder in which chromosome 13 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr13 ! chromosome 13 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700021
name: chromosome 14 disorder
def: "Chromosomal disorder in which chromosome 14 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr14 ! chromosome 14 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700022
name: chromosome 15 disorder
def: "Chromosomal disorder in which chromosome 15 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr15 ! chromosome 15 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700023
name: chromosome 16 disorder
def: "Chromosomal disorder in which chromosome 16 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700024
name: chromosome 19 disorder
def: "Chromosomal disorder in which chromosome 19 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr19 ! chromosome 19 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700025
name: chromosome 20 disorder
def: "Chromosomal disorder in which chromosome 20 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr20 ! chromosome 20 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700026
name: chromosome 22 disorder
def: "Chromosomal disorder in which chromosome 22 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr22 ! chromosome 22 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700027
name: chromosome X disorder
def: "Chromosomal disorder in which chromosome X is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0020058 ! gonosome anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chrX ! chromosome X (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700028
name: chromosome Y disorder
def: "Chromosomal disorder in which chromosome Y is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020058 ! gonosome anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chrY ! chromosome Y (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700029
name: partial duplication of chromosome 13
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr13 ! chromosome 13 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700030
name: complete trisomy 21
def: "Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism." [https://orcid.org/0000-0002-4142-7153, PMID:29218069]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "standard trisomy 21" EXACT [https://includedcc.org/]
is_a: MONDO:0700126 {source="https://orcid.org/0000-0001-5208-3432"} ! trisomy 21
intersection_of: MONDO:0700126 ! trisomy 21
intersection_of: has_characteristic MONDO:0700063 ! complete
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5137" xsd:anyURI

[Term]
id: MONDO:0700031
name: mosaic trisomy 18
def: "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism." [https://orcid.org/0000-0002-4142-7153, PMID:27087248]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
intersection_of: MONDO:0018071 ! trisomy 18
intersection_of: has_characteristic MONDO:0700062 ! mosaic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700032
name: complete trisomy 18
def: "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism." [https://orcid.org/0000-0002-4142-7153, PMID:27087248]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:56262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0152096 {source="MONDO:equivalentTo", source="MEDGEN:56262", source="MONDO:MEDGEN"}
intersection_of: MONDO:0018071 ! trisomy 18
intersection_of: has_characteristic MONDO:0700063 ! complete
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700033
name: complete trisomy 13
def: "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism." [doi:10.1186/1753-6561-9-S1-A51, https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
intersection_of: MONDO:0018068 ! trisomy 13
intersection_of: has_characteristic MONDO:0700063 ! complete
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700034
name: mosaic trisomy 13
def: "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism." [doi:10.1186/1753-6561-9-S1-A51, https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="GARD:10869", source="MONDO:GARD"}
subset: rare
synonym: "trisomy 13 mosaicism" EXACT [doi:10.1186/1753-6561-9-S1-A51]
xref: GARD:10869 {source="MONDO:GARD"}
intersection_of: MONDO:0018068 ! trisomy 13
intersection_of: has_characteristic MONDO:0700062 ! mosaic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700035
name: monosomy chromosome 8
def: "A chromosomal disorder consisting of the absence of one chromosome 8." [MONDO:patterns/monosomy]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "chromosome 8 deletion" EXACT [MESH:C537823, MONDO:patterns/monosomy]
synonym: "loss of chromosome 8" RELATED [NCIT:C36535]
xref: MESH:C537823 {source="MONDO:equivalentTo"}
xref: NCIT:C36535 {source="MONDO:relatedTo"}
intersection_of: MONDO:0020639 ! monosomy
intersection_of: disease_arises_from_structure CHR:9606-chr8 ! chromosome 8 (Human)

[Term]
id: MONDO:0700036
name: fibrothecoma
def: "A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma." [https://orcid.org/0000-0002-4142-7153]
xref: MEDGEN:1668953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4721918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1668953"}
is_a: MONDO:0006055 {source="https://orcid.org/0000-0002-4142-7153"} ! sex cord-stromal tumor
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700037
name: testicular fibrothecoma
def: "A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma." [https://www.ncbi.nlm.nih.gov/books/NBK558916, PMID:23715159, PMID:33102067]
subset: gard_rare {source="MONDO:GARD"}
subset: mondo_rare {source="https://www.ncbi.nlm.nih.gov/books/NBK558916/", source="PMID:23715159", source="PMID:33102067"}
subset: rare
is_a: MONDO:0003125 {source="PMID:23715159", source="PMID:33102067", source="https://orcid.org/0000-0002-4142-7153", source="https://www.ncbi.nlm.nih.gov/books/NBK558916"} ! testicular sex cord-stromal neoplasm
is_a: MONDO:0700036 {source="https://orcid.org/0000-0002-4142-7153"} ! fibrothecoma
relationship: has_characteristic MONDO:0021136 {source="PMID:23715159", source="PMID:33102067", source="https://www.ncbi.nlm.nih.gov/books/NBK558916/"} ! rare
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700038
name: TDP-43 proteinopathy
def: "Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease." [MESH:D057177]
xref: MEDGEN:439336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D057177 {source="MONDO:equivalentTo"}
xref: UMLS:C2718017 {source="MEDGEN:439336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021179 {source="MESH:D057177", source="UMLS:C2718017"} ! proteostasis deficiencies
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700039
name: bladder exstrophy-epispadias-cloacal extrophy complex
def: "An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia." [OMIM:600057]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "BEEC" EXACT ABBREVIATION [OMIM:600057]
xref: MEDGEN:374033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600057 {source="MONDO:equivalentTo"}
xref: UMLS:C1838703 {source="MEDGEN:374033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017919 ! exstrophy-epispadias complex
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3650" xsd:anyURI

[Term]
id: MONDO:0700040
name: neonatal jaundice due to ABO incompatibility
def: "Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility." [https://orcid.org/0000-0002-4142-7153, PMID:20598320, PMID:24382531]
xref: MEDGEN:1683766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:16716281000119108 {source="MONDO:equivalentTo"}
xref: UMLS:C5190730 {source="MEDGEN:1683766", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024288 {source="https://orcid.org/0000-0002-4142-7153"} ! hyperbilirubinemia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4480" xsd:anyURI

[Term]
id: MONDO:0700041
name: neuroblastoma, susceptibility to, 2
subset: inferred_rare
subset: rare
synonym: "NBLST2" EXACT ABBREVIATION [OMIM:613013]
synonym: "neuroblastoma, susceptibility to, type 2" EXACT [OMIM:613013]
synonym: "susceptibility to neuroblastoma 2" EXACT [OMIM:613013]
xref: MEDGEN:416607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613013 {source="MONDO:equivalentTo"}
xref: UMLS:C2751682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416607"}
is_a: MONDO:0020573 {source="OMIM:613013"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9143 ! PHOX2B
intersection_of: predisposes_towards MONDO:0005072 ! neuroblastoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9143 {source="OMIM:613013"} ! PHOX2B
relationship: predisposes_towards MONDO:0005072 {source="OMIM:613013"} ! neuroblastoma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700042
name: obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
xref: GARD:12915 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6764" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0010386

[Term]
id: MONDO:0700043
name: syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0016930 {source="https://orcid.org/0000-0002-4142-7153"} ! partial trisomy/tetrasomy of chromosome 9
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr9p ! 9p (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700044
name: TUBB2A-related tubulinopathy
def: "A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features." [https://clinicalgenome.org/affiliation/40006/]
subset: inferred_rare
subset: rare
is_a: MONDO:0100153 {source="https://clinicalgenome.org/affiliation/40006/"} ! tubulinopathy
is_a: MONDO:0100516 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder with motor features
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12412 {source="https://clinicalgenome.org/affiliation/40006/"} ! TUBB2A
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5700" xsd:string

[Term]
id: MONDO:0700045
name: protothecosis
def: "A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement." [MONDO:patterns/infectious_disease_by_agent, PMID:15124862]
xref: MEDGEN:508074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0033735 {source="MEDGEN:508074", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005550 {source="PMID:15124862"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:3110 ! Prototheca
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5535" xsd:anyURI

[Term]
id: MONDO:0700046
name: baclofen withdrawal syndrome
def: "Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis." [https://orcid.org/0000-0001-7151-1615, https://orcid.org/0000-0002-4142-7153, PMID:12048649]
is_a: MONDO:0005567 {source="PMID:12048649"} ! substance withdrawal syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5544" xsd:anyURI

[Term]
id: MONDO:0700047
name: premenopausal osteoporosis
def: "Osteoporosis occurring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures." [PMID:28394826]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0005298 {source="PMID:28394826"} ! osteoporosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5742" xsd:anyURI

[Term]
id: MONDO:0700048
name: hand-foot syndrome
def: "A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents." [https://orcid.org/0000-0001-7151-1615, NCIT:C27177]
synonym: "palmar-plantar erythrodysthesia" EXACT [NCIT:C27177]
xref: MEDGEN:107497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D060831 {source="MONDO:equivalentTo"}
xref: NCIT:C27177 {source="MONDO:equivalentTo"}
xref: UMLS:C0549410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107497"}
is_a: MONDO:0002254 {source="NCIT:C27177"} ! syndromic disease
is_a: MONDO:0005093 {source="https://orcid.org/0000-0001-7151-1615"} ! skin disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5531" xsd:anyURI

[Term]
id: MONDO:0700049
name: infectious disease, non-human animal
def: "Infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005550 ! cross-species analog infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700050
name: bacterial infectious disease, non-human animal
def: "Bacterial infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005113 ! cross-species analog bacterial infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700051
name: liver abscess (disease)
def: "An abscess that involves the liver." [MONDO:patterns/location]
synonym: "abscess of liver" EXACT [MONDO:patterns/location]
synonym: "hepatic abscess" EXACT [https://orcid.org/0000-0002-2658-1136, https://orcid.org/0000-0002-2825-0621]
xref: NCIT:C99089 {source="MONDO:equivalentTo"}
xref: SCTID:27916005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005227 {source="https://orcid.org/0000-0002-2658-1136", source="https://orcid.org/0000-0002-2825-0621"} ! abscess
intersection_of: MONDO:0005227 ! abscess
intersection_of: disease_has_location UBERON:0002107 ! liver
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700052
name: intersphincteric abscess
def: "An abscess contained between the internal and external anal sphincters." [https://orcid.org/0000-0002-2658-1136, https://orcid.org/0000-0002-2825-0621]
xref: MEDGEN:574358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:235795007 {source="MONDO:equivalentTo"}
xref: UMLS:C0341384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574358"}
is_a: MONDO:0005227 {source="https://orcid.org/0000-0002-2658-1136", source="https://orcid.org/0000-0002-2825-0621"} ! abscess
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700053
name: viral infectious disease, non-human animal
def: "Viral infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005108 ! cross-species analog viral infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700054
name: microcephaly 6 with or without short stature
def: "Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures." [https://clinicalgenome.org/affiliation/40060]
comment: Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., PMID: 9128935). MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (Woods et al., PMID: 15806441). Seckel syndrome 4 and autosomal recessive primary microcephaly 6 are currently lumped together into one disease entity per the criteria outlined by the ClinGen Lumping and Splitting Working Group, while more published literature detailing Seckel syndrome 4 may support two split disease entities in the future.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0016660 {source="https://orcid.org/0000-0002-4142-7153"} ! autosomal recessive primary microcephaly
is_a: MONDO:0100346 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly with or without short stature
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4686" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6199" xsd:anyURI

[Term]
id: MONDO:0700055
name: KIF1A related neurological disorder
def: "KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A" [https://orcid.org/0000-0002-8134-1207, PMID:3388045]
subset: otar {source="MONDO:OTAR"}
synonym: "KAND" EXACT ABBREVIATION [https://orcid.org/0000-0002-8134-1207]
synonym: "KIF1A neurological disorder" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "neurological disorder caused by mutation in KIF1A" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "neurological disorder caused by variation in KIF1A" EXACT [MONDO:patterns/disease_series_by_gene]
xref: PMID:37259299
is_a: MONDO:0005071 {source="PMID:3388045", source="https://orcid.org/0000-0002-8134-1207"} ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/888 ! KIF1A
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4694" xsd:anyURI

[Term]
id: MONDO:0700056
name: fungal infectious disease, non-human animal
def: "Fungal infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002041 ! cross-species analog fungal infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700057
name: neurological pain disorder
def: "A nervous system disorder that has pain as a major feature." [https://orcid.org/0000-0002-4142-7153]
synonym: "neurologic pain syndrome" EXACT [https://orcid.org/0000-0002-4142-7153]
synonym: "neurological pain disease" EXACT [https://orcid.org/0000-0002-4142-7153]
xref: MEDGEN:602552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0423704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:602552"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-4142-7153"} ! nervous system disorder
intersection_of: MONDO:0005071 ! nervous system disorder
intersection_of: disease_has_major_feature HP:0012531 ! Pain
relationship: realized_in GO:0019233 {source="https://orcid.org/0000-0002-4142-7153"} ! sensory perception of pain
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700058
name: Morton neuroma
def: "Compressive neuropathy of the forefoot interdigital nerve chiefly due to compression and irritation at the plantar aspect of the transverse intermetatarsal ligament. It is not a true neuroma as the condition is degenerative rather than neoplastic. The most common location for Morton neuroma is between the 2nd and 3rd metatarsals." [https://orcid.org/0000-0001-7151-1615, PMID:29262171]
synonym: "interdigital nerve compression syndrome" EXACT [PMID:29262171]
synonym: "interdigital neuralgia" EXACT [PMID:29262171]
synonym: "interdigital neuritis" EXACT [PMID:29262171]
synonym: "interdigital neuroma" EXACT [PMID:29262171]
synonym: "intermetatarsal neuroma" EXACT [PMID:29262171]
synonym: "Morton entrapment" EXACT [PMID:29262171]
synonym: "Morton metatarsalgia" EXACT [PMID:29262171]
xref: MEDGEN:90231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C4075 {source="MONDO:equivalentTo"}
xref: UMLS:C0311337 {source="MEDGEN:90231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002173 {source="NCIT:C4075", source="https://orcid.org/0000-0001-7151-1615"} ! neuroma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5541" xsd:anyURI

[Term]
id: MONDO:0700059
name: Actinobacillus infectious disease, non-human animal
def: "Actinobacillus infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700050 ! bacterial infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006636 ! cross-species analog Actinobacillus infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700060
name: leukemia, acute, X-linked
def: "X-linked form of acute leukemia" [MONDO:patterns/x_linked]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:502257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:308960 {source="MONDO:equivalentTo"}
xref: UMLS:C3501854 {source="MEDGEN:502257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010643 {source="OMIM:308960"} ! acute leukemia
intersection_of: MONDO:0010643 ! acute leukemia
intersection_of: has_characteristic HP:0001417 ! X-linked inheritance
relationship: has_characteristic PATO:0000389 ! acute
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700061
name: mosaic vs complete
def: "A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism." [https://orcid.org/0000-0002-4142-7153]
is_a: MONDO:0021125 ! disease characteristic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700062
name: mosaic
def: "A disease characteristic in which the cause of the disease is present in some of the cells of the organism." [https://medlineplus.gov/ency/article/001317.htm, PMID:7847381]
is_a: MONDO:0700061 ! mosaic vs complete
disjoint_from: MONDO:0700063 ! complete
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700063
name: complete
def: "A disease characteristic in which the cause of the disease is present in all the cells of the organism." [https://orcid.org/0000-0002-4142-7153]
is_a: MONDO:0700061 ! mosaic vs complete
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700064
name: aneuploidy
def: "Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set." [https://orcid.org/0000-0002-4142-7153, NCIT:C2873, PMID:26126276]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosome number anomaly" EXACT [https://orcid.org/0000-0002-4142-7153]
xref: MEDGEN:294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D000782 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C2873 {source="MONDO:equivalentTo"}
xref: UMLS:C0002938 {source="MONDO:equivalentTo", source="MEDGEN:294", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: has_characteristic SO:0000054 ! aneuploid
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700065
name: trisomy
def: "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." [NCIT:C3421]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "chromosomal triplication" RELATED [GARD:0006065]
xref: MEDGEN:21702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D014314 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C3421 {source="MONDO:relatedTo"}
xref: UMLS:C0041107 {source="MEDGEN:21702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700064 {source="https://orcid.org/0000-0002-4142-7153"} ! aneuploidy
relationship: has_characteristic SO:0000055 {source="https://orcid.org/0000-0002-4142-7153"} ! hyperploid
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700066
name: myopathy caused by variation in FKRP
def: "Any myopathy in which the cause of the disease is a variation in the FKRP gene." [MONDO:patterns/disease_series_by_gene]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005072) ontology branch (https://orcid.org/0000-0002-1780-5236)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FKRP myopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "FKRP-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene]
synonym: "myopathy caused by mutation in FKRP" EXACT [MONDO:patterns/disease_series_by_gene]
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 ! FKRP
relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0016156 {source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of FKRP
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6756" xsd:anyURI

[Term]
id: MONDO:0700067
name: myopathy caused by variation in FKTN
def: "Any myopathy in which the cause of the disease is a variation in the FKTN gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "FKTN myopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "FKTN-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene]
synonym: "myopathy caused by mutation in FKTN" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/50061/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 ! FKTN
relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700068
name: myopathy caused by variation in POMGNT1
def: "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene." [MONDO:patterns/disease_series_by_gene]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myopathy caused by mutation in POMGNT1" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POMGNT1 myopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POMGNT1-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 ! POMGNT1
relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0700069
name: myopathy caused by variation in POMGNT2
def: "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myopathy caused by mutation in POMGNT2" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POMGNT2 myopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POMGNT2-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene]
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25902 ! POMGNT2
relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700070
name: myopathy caused by variation in POMT1
def: "Any myopathy in which the cause of the disease is a variation in the POMT1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myopathy caused by mutation in POMT1" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POMT1 myopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POMT1-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/50061/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9202 ! POMT1
relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700071
name: myopathy caused by variation in POMT2
def: "Any myopathy in which the cause of the disease is a variation in the POMT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "myopathy caused by mutation in POMT2" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POMT2 myopathy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "POMT2-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy
is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/50061/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 ! POMT2
relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700072
name: Rhabdoviridae infectious disease, non-human animal
def: "Rhabdoviridae infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700053 ! viral infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005944 ! cross-species analog Rhabdoviridae infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700073
name: glutaric acidemia IIa
def: "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ETFA deficiency" EXACT [OMIM:231680]
synonym: "GA2A" EXACT ABBREVIATION [OMIM:231680]
synonym: "glutaric acidemia 2A" EXACT [OMIM:231680]
synonym: "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFA" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:479784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:231680 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3278154 {source="MEDGEN:479784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009282 {source="OMIM:231680"} ! multiple acyl-CoA dehydrogenase deficiency
intersection_of: MONDO:0009282 ! multiple acyl-CoA dehydrogenase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3481 ! ETFA
relationship: should_conform_to http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_gene_and_inheritance.yaml
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4691" xsd:anyURI

[Term]
id: MONDO:0700074
name: glutaric acidemia IIb
def: "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ETFB deficiency" EXACT [OMIM:231680]
synonym: "GA2B" EXACT ABBREVIATION [OMIM:231680]
synonym: "glutaric acidemia 2B" EXACT [OMIM:231680]
synonym: "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFB" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:479785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:231680 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3278155 {source="MEDGEN:479785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009282 {source="OMIM:231680"} ! multiple acyl-CoA dehydrogenase deficiency
intersection_of: MONDO:0009282 ! multiple acyl-CoA dehydrogenase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3482 ! ETFB
relationship: should_conform_to http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_gene_and_inheritance.yaml
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4691" xsd:anyURI

[Term]
id: MONDO:0700075
name: congenital muscular dystrophy caused by variation in POMGNT2
def: "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital muscular dystrophy caused by mutation in POMGNT2" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "congenital muscular dystrophy-POMGNT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/, MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0700069 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT2
intersection_of: MONDO:0019950 ! congenital muscular dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25902 ! POMGNT2
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI

[Term]
id: MONDO:0700076
name: glutaric acidemia IIc
def: "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ETFDH deficiency" EXACT [OMIM:231680]
synonym: "GA2C" EXACT ABBREVIATION [OMIM:231680]
synonym: "glutaric acidemia 2C" EXACT [OMIM:231680]
synonym: "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFDH" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:479786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:231680 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3278156 {source="MEDGEN:479786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009282 {source="OMIM:231680"} ! multiple acyl-CoA dehydrogenase deficiency
intersection_of: MONDO:0009282 ! multiple acyl-CoA dehydrogenase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3483 ! ETFDH
relationship: should_conform_to http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_gene_and_inheritance.yaml
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4691" xsd:anyURI

[Term]
id: MONDO:0700077
name: vitiligo-associated multiple autoimmune disease susceptibility 6
synonym: "VAMAS6" EXACT ABBREVIATION [OMIM:193200]
xref: MEDGEN:479331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:193200 {source="MONDO:equivalentTo"}
xref: UMLS:C3277701 {source="MEDGEN:479331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:193200"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007179 {source="OMIM:193200"} ! autoimmune disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700078
name: triple-positive breast carcinoma
def: "A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)." [https://orcid.org/0000-0002-4142-7153]
synonym: "hormone receptor positive her2 positive breast cancer" EXACT [https://www.nccn.org]
synonym: "HR-positive HER2 positive breast cancer" EXACT [https://www.nccn.org]
synonym: "triple positive breast cancer" EXACT [UMLS:C5243562]
xref: MEDGEN:1825949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C118311 {source="MONDO:equivalentTo"}
xref: UMLS:C5243562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825949"}
is_a: MONDO:0000615 {source="https://orcid.org/0000-0002-4142-7153"} ! progesterone-receptor positive breast cancer
is_a: MONDO:0006244 {source="https://orcid.org/0000-0002-4142-7153"} ! HER2 positive breast carcinoma
is_a: MONDO:0006512 {source="https://orcid.org/0000-0002-4142-7153"} ! estrogen-receptor positive breast cancer
intersection_of: MONDO:0004989 ! breast carcinoma
intersection_of: disease_has_feature NCIT:C15492 ! Estrogen Receptor Positive
intersection_of: disease_has_feature NCIT:C15496 ! Progesterone Receptor Positive
intersection_of: disease_has_feature NCIT:C68748 ! HER2/Neu Positive
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4933" xsd:anyURI

[Term]
id: MONDO:0700079
name: hormone receptor-positive breast cancer
def: "A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2)." [https://orcid.org/0000-0002-4142-7153]
synonym: "hormone receptor positive breast cancer" EXACT [https://orcid.org/0000-0002-1780-9872]
synonym: "HR-positive HER2-negative breast cancer" EXACT []
xref: MEDGEN:1825950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C157056 {source="MONDO:mondoIsNarrowerThanSource"}
xref: UMLS:C5442556 {source="MEDGEN:1825950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000615 {source="https://orcid.org/0000-0002-4142-7153"} ! progesterone-receptor positive breast cancer
is_a: MONDO:0000618 {source="https://orcid.org/0000-0002-4142-7153"} ! Her2-receptor negative breast cancer
is_a: MONDO:0006512 {source="https://orcid.org/0000-0002-4142-7153"} ! estrogen-receptor positive breast cancer
intersection_of: MONDO:0004989 ! breast carcinoma
intersection_of: disease_has_feature NCIT:C15492 ! Estrogen Receptor Positive
intersection_of: disease_has_feature NCIT:C15496 ! Progesterone Receptor Positive
intersection_of: disease_has_feature NCIT:C68749 ! HER2/Neu Negative
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4933" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6779" xsd:anyURI

[Term]
id: MONDO:0700080
name: EPHB4-associated vascular malformation spectrum
def: "Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene." [MONDO:patterns/disease_series_by_gene]
comment: Variants in the EPHB4 gene have been observed in individuals with capillary malformation-arteriovenous malformation (CM-AVM) (characterized by the presence of multiple small capillary malformations, mostly on the face and limbs, +/- other arteriovenous malformations or arteriovenous fistulas) as well as with lymphatic malformations, ranging in severity from severe non-immune hydrops fetalis to varicose veins and/or subclinical lymphatic anomalies, even within the same family (PMID:27400125). Evidence suggests that both of these presentations are caused by loss of function, though the exact mechanism by which this occurs is variable; some variants demonstrate reduced expression and defects in subcellular localization with aggregates, others have normal expression levels but reduced tyrosine kinase activity) (PMID:33864021). It has been hypothesized that the different presentations may be due to differences in forward vs. reverse signaling defects, but this remains to be elucidated. [PMID:27400125, PMID:2868770, PMID:30760892, PMID:33864021]
subset: clingen {source="MONDO:CLINGEN"}
subset: otar {source="MONDO:OTAR"}
is_a: MONDO:0024291 {source="https://www.clinicalgenome.org/affiliation/40106/"} ! vascular malformation
intersection_of: MONDO:0024291 ! vascular malformation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3395 ! EPHB4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4941" xsd:anyURI

[Term]
id: MONDO:0700081
name: newborn respiratory distress syndrome
def: "A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange." [SCTID:46775006]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HMD - hyaline membrane disease" EXACT [DOID:12716]
synonym: "hyaline membrane disease" EXACT [DOID:12716, Orphanet:70587]
synonym: "infant acute respiratory distress syndrome" EXACT [Orphanet:70587]
synonym: "infant ARDS" EXACT [Orphanet:70587]
synonym: "infant respiratory distress syndrome" EXACT [Orphanet:70587]
synonym: "neonatal respiratory distress" EXACT [NCIT:C27560]
synonym: "neonatal respiratory distress syndrome" EXACT [DOID:12716, GARD:0000112, NCIT:C27560, Orphanet:70587]
synonym: "newborns (RDS), respiratory distress syndrome Of" EXACT [NCIT:C27560]
synonym: "NRDS" RELATED ABBREVIATION [GARD:0000112]
synonym: "pulmonary hyaline membrane disease" EXACT [DOID:12716]
synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT [DOID:12716]
synonym: "RDS" BROAD ABBREVIATION [NCIT:C27560]
synonym: "RDS - infants" RELATED [GARD:0000112]
synonym: "RDS Of newborns" EXACT [NCIT:C27560]
synonym: "RDS of prematurity" NARROW [OMIM:267450]
synonym: "RDS, respiratory distress syndrome Of newborns" EXACT [NCIT:C27560]
synonym: "respiratory distress syndrome" BROAD [NCIT:C27560]
synonym: "respiratory distress syndrome in premature infants" NARROW [OMIM:267450]
synonym: "respiratory distress syndrome in the newborn" EXACT [NCIT:C27560]
synonym: "respiratory distress syndrome of newborn" EXACT [DOID:12716]
synonym: "respiratory distress syndrome Of newborns" EXACT [NCIT:C27560]
synonym: "respiratory distress syndrome Of newborns (RDS)" EXACT [NCIT:C27560]
synonym: "respiratory distress syndrome, infant" RELATED [GARD:0000112]
synonym: "syndrome Of newborns (RDS), respiratory distress" EXACT [NCIT:C27560]
xref: DOID:12716 {source="MONDO:equivalentTo", source="EFO:1000644"}
xref: EFO:1000644 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:P22.0 {source="Orphanet:70587", source="DOID:12716", source="Orphanet:70587/e"}
xref: ICD9:769 {source="MONDO:equivalentTo", source="MONDO:i2s"}
xref: MESH:D006819 {source="DOID:12716", source="EFO:1000644"}
xref: NCIT:C27560 {source="MONDO:equivalentTo"}
xref: SCTID:206281003 {source="DOID:12716"}
xref: SCTID:26168007 {source="DOID:12716"}
xref: SCTID:46775006 {source="MONDO:equivalentTo", source="DOID:12716"}
is_a: MONDO:0002254 {source="NCIT:C27560"} ! syndromic disease
is_a: MONDO:0017015 {source="Orphanet:70587"} ! primary interstitial lung disease specific to childhood
is_a: MONDO:0021113 {source="DOID:12716", source="MONDO:Redundant", source="NCIT:C27560"} ! respiratory failure
is_a: MONDO:0100131 {source="https://orcid.org/0000-0002-4142-7153"} ! pediatric acute respiratory distress syndrome
intersection_of: MONDO:0006502 ! acute respiratory distress syndrome
intersection_of: has_characteristic HP:0003593 ! Infantile onset
intersection_of: has_characteristic HP:0003623 ! Neonatal onset
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0001208 {source="DOID:12716", source="https://orcid.org/0000-0001-5208-3432"} ! acute respiratory failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5005" xsd:anyURI

[Term]
id: MONDO:0700082
name: Robertsonian translocation Down syndrome
def: "Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome." [https://orcid.org/0000-0002-4142-7153, PMID:1831959, PMID:23097978, PMID:29956287]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1816520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C188150 {source="MONDO:equivalentTo"}
xref: UMLS:C5707615 {source="MEDGEN:1816520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700128 {source="https://orcid.org/0000-0002-4142-7153"} ! translocation Down syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5109" xsd:anyURI

[Term]
id: MONDO:0700083
name: reciprocal translocation down syndrome
def: "Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes." [https://orcid.org/0000-0002-4142-7153, PMID:134161, PMID:29956287]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700128 {source="https://orcid.org/0000-0002-4142-7153"} ! translocation Down syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5109" xsd:anyURI

[Term]
id: MONDO:0700084
name: myopathy caused by variation in GMPPB
def: "Any myopathy in which the cause of the disease is a variation in the GMPPB gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "GMPPB-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/]
synonym: "myopathy caused by mutation in GMPPB" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/50061/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 ! GMPPB
relationship: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linked glycosylation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700085
name: pentasomy
def: "A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number." [https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700064 {source="https://orcid.org/0000-0002-4142-7153"} ! aneuploidy
relationship: has_characteristic SO:0000055 {source="https://orcid.org/0000-0002-4142-7153"} ! hyperploid
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700086
name: uniparental disomy
def: "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders." [NCIT:C85215]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:181871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D024182 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: NCIT:C85215 {source="MONDO:equivalentTo"}
xref: UMLS:C0949628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181871"}
is_a: MONDO:0019040 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700087
name: Usher syndrome type 1B
def: "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene" [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:5436", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Usher syndrome, type 1B" EXACT [OMIM:276900, OMIM:genemap2]
xref: GARD:5436 {source="MONDO:GARD"}
xref: MEDGEN:419358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536485 {source="MONDO:equivalentTo"}
xref: OMIM:276900 {source="MONDO:equivalentTo"}
xref: UMLS:C2931206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419358"}
is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1
intersection_of: MONDO:0019501 ! Usher syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 ! MYO7A
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7606 {source="OMIM:276900"} ! MYO7A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0700088
name: paroxysmal nonkinesigenic dyskinesia
def: "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." [Orphanet:98810]
subset: gard_rare {source="GARD:8722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:98810"}
subset: orphanet_rare {source="Orphanet:98810"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "DYT-MR-1" RELATED [GARD:0008722]
synonym: "paroxysmal non-kinesigenic dyskinesia" RELATED [Orphanet:98810]
synonym: "Paroxysomal nonkinesigenic dyskinesia" RELATED [GARD:0008722]
synonym: "Paroxystic non-kinesigenic choreoathetosis" EXACT [Orphanet:98810]
xref: GARD:8722 {source="MONDO:GARD"}
xref: MEDGEN:401504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98810 {source="MONDO:equivalentTo"}
xref: UMLS:C1869117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401504"}
is_a: MONDO:0015427 {source="Orphanet:98810"} ! paroxysmal dyskinesia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700089
name: paroxysmal nonkinesigenic dyskinesia 1
def: "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "choreoathetosis, familial paroxysmal" RELATED [OMIM:118800]
synonym: "choreoathetosis, nonkinesigenic" RELATED [OMIM:118800]
synonym: "dystonia 8" RELATED [OMIM:118800]
synonym: "mount-reback syndrome" RELATED [OMIM:118800]
synonym: "paroxysmal dyskinesia caused by mutation in PNKD" EXACT [MONDO:design_pattern]
synonym: "paroxysmal dystonic choreoathetosis" RELATED [OMIM:118800]
synonym: "paroxysmal nonkinesigenic dyskinesia 1" EXACT [MONDO:0007326, MONDO:Lexical, OMIM:118800]
synonym: "paroxysmal nonkinesigenic dyskinesia type 1" EXACT [DOID:0090049, MONDORULE:1, OMIM:118800]
synonym: "PNKD paroxysmal dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "PNKD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118800]
synonym: "PxMD-PNKD" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155]
xref: DOID:0090049 {source="MONDO:equivalentTo"}
xref: ICD10CM:G24.8 {source="Orphanet:98810/attributed", source="Orphanet:98810/ntbt", source="Orphanet:98810", source="DOID:0090049"}
xref: MedDRA:10065657 {source="Orphanet:98810", source="Orphanet:98810/e"}
xref: MedDRA:10065658 {source="Orphanet:98810", source="Orphanet:98810/e"}
xref: MEDGEN:1631383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537181 {source="Orphanet:98810", source="Orphanet:98810/e"}
xref: OMIM:118800 {source="Orphanet:98810", source="MONDO:equivalentTo", source="DOID:0090049", source="Orphanet:98810/e"}
xref: Orphanet:98810 {source="OMIM:118800", source="DOID:0090049"}
xref: UMLS:C4551506 {source="MEDGEN:1631383", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015427 {source="MONDO:Redundant", source="Orphanet:98810"} ! paroxysmal dyskinesia
is_a: MONDO:0044807 {source="DOID:0090049", source="MONDO:Redundant", source="OMIM:118800"} ! inherited dystonia
is_a: MONDO:0700088 {source="Orphanet:98810"} ! paroxysmal nonkinesigenic dyskinesia
intersection_of: MONDO:0015427 ! paroxysmal dyskinesia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9153 ! PNKD
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9153 {source="MONDO:mim2gene_medgen"} ! PNKD
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700090
name: epilepsy, familial temporal lobe, 1
def: "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations." [NCIT:C141441]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "epilepsy, familial temporal lobe, type 1" EXACT [OMIM:600512]
synonym: "epilepsy, lateral temporal lobe, autosomal dominant" EXACT [OMIM:600512]
synonym: "epilepsy, partial, with auditory features" EXACT [OMIM:600512]
synonym: "ETL1" EXACT ABBREVIATION [OMIM:600512]
xref: MEDGEN:1643229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C141441 {source="MONDO:equivalentTo"}
xref: OMIM:600512 {source="MONDO:equivalentTo"}
xref: UMLS:C4551957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643229"}
is_a: MONDO:0010898 {source="Orphanet:101046"} ! autosomal dominant epilepsy with auditory features
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6572 {source="OMIM:600512"} ! LGI1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2614" xsd:anyURI

[Term]
id: MONDO:0700091
name: ring chromosome disorder
def: "Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome." [https://orcid.org/0000-0002-4142-7153, NCIT:C3360]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "supernumerary circular chromosome" EXACT [NCIT:C3360]
xref: MESH:D012303 {source="MONDO:equivalentTo"}
xref: NCIT:C3360 {source="MONDO:equivalentTo"}
is_a: MONDO:0019040 ! chromosomal disorder
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: has_characteristic SO:1000045 ! ring_chromosome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700092
name: neurodevelopmental disorder
def: "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions." [SCTID:700364009]
subset: otar {source="MONDO:OTAR"}
xref: EFO:0010642 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD10CM:F01-F99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"}
xref: MedDRA:C1535926
xref: MEDGEN:453059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065886 {source="MONDO:equivalentTo"}
xref: NCIT:C1535926 {source="MONDO:equivalentTo"}
xref: NCIT:C89338 {source="MONDO:equivalentTo"}
xref: SCTID:700364009 {source="MONDO:equivalentTo"}
xref: UMLS:C1535926 {source="MEDGEN:453059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="https://orcid.org/0000-0002-1780-5230"} ! nervous system disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3410" xsd:anyURI

[Term]
id: MONDO:0700093
name: balanced Robertsonian translocation Down syndrome
def: "Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred without loss of chromosomal material between the two nonhomologous chromosomes." []
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700082 {source="https://orcid.org/0000-0002-4142-7153"} ! Robertsonian translocation Down syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5109" xsd:anyURI

[Term]
id: MONDO:0700094
name: unbalanced Robertsonian translocation Down syndrome
def: "Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous chromosomes." []
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700082 {source="https://orcid.org/0000-0002-4142-7153"} ! Robertsonian translocation Down syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5109" xsd:anyURI

[Term]
id: MONDO:0700095
name: Reoviridae infectious disease, non-human animal
def: "Reoviridae infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005939 ! cross-species analog Reoviridae infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700096
name: human disease
subset: rare_grouping
synonym: "human disease or disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0000001 {source="http://orcid.org/0000-0002-4142-7153"} ! disease
intersection_of: MONDO:0000001 ! disease
intersection_of: in_taxon NCBITaxon:9606 ! Homo sapiens
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5858" xsd:anyURI
property_value: RO:0002175 NCBITaxon:9606

[Term]
id: MONDO:0700098
name: neoplasm, non-human animal
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005070 ! cross-species analog neoplasm
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: MONDO:0700097 MONDO:0005070 ! cross-species analog neoplasm
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700099
name: adenocarcinoma, non-human animal
is_a: MONDO:0700098 ! neoplasm, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004970 ! cross-species analog adenocarcinoma
relationship: MONDO:0700097 MONDO:0004970 ! cross-species analog adenocarcinoma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700100
name: leukemia, non-human animal
is_a: MONDO:0700098 ! neoplasm, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005059 ! cross-species analog leukemia
relationship: MONDO:0700097 MONDO:0005059 ! cross-species analog leukemia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700101
name: carcinoma, non-human animal
is_a: MONDO:0700098 ! neoplasm, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004993 ! cross-species analog carcinoma
relationship: MONDO:0700097 MONDO:0004993 ! cross-species analog carcinoma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700102
name: lymphoma, non-human animal
xref: OMIA:001733 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001733"} ! non-human animal disease
is_a: MONDO:0700098 ! neoplasm, non-human animal
is_a: MONDO:1011305 {source="OMIA:001733", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005062 ! cross-species analog lymphoma
relationship: MONDO:0700097 MONDO:0005062 ! cross-species analog lymphoma
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:0700103
name: nutritional deficiency disease, non-human animal
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006873 ! cross-species analog nutritional deficiency disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: MONDO:0700097 MONDO:0006873 ! cross-species analog nutritional deficiency disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700104
name: respiratory system disorder, non-human animal
def: "Respiratory system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005087 ! cross-species analog respiratory system disorder
relationship: MONDO:0700097 MONDO:0005087 ! cross-species analog respiratory system disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700105
name: difference of sexual differentiation, non-human animal
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002145 ! cross-species analog disorder of sexual differentiation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700106
name: immune system disorder, non-human animal
def: "Immune system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005046 ! cross-species analog immune system disorder
relationship: MONDO:0700097 MONDO:0005046 ! cross-species analog immune system disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700107
name: chromosome 19q13.11 deletion syndrome, distal
def: "Chromosome 19q13.11 deletion syndrome in which the distal region was deleted." [https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:935015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613026 {source="MONDO:equivalentTo"}
xref: UMLS:C4311048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:935015"}
is_a: MONDO:0013090 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 19q13.11 deletion syndrome
relationship: disease_arises_from_structure CHR:9606-chr19q13.11 {source="https://orcid.org/0000-0002-4142-7153"} ! 19q13.11 (Human)
relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700108
name: prion disease, non-human animal
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005429 ! cross-species analog prion disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700109
name: skin disease caused by bacterial infection, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024295 ! cross-species analog skin disease caused by bacterial infection
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700110
name: pneumonia, non-human animal
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005249 ! cross-species analog pneumonia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700111
name: bacterial pneumonia, non-human animal
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004652 ! cross-species analog bacterial pneumonia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700112
name: heterotaxy, visceral, 5, autosomal
def: "Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "HTX5" EXACT ABBREVIATION [OMIM:270100]
synonym: "NODAL visceral heterotaxy" EXACT [MONDO:patterns/disease_series_by_gene]
synonym: "situs inversus viscerum" EXACT DEPRECATED [OMIM:270100]
synonym: "SIV" EXACT DEPRECATED [OMIM:270100]
synonym: "visceral heterotaxy caused by mutation in NODAL" EXACT [MONDO:patterns/disease_series_by_gene]
xref: MEDGEN:501198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:270100 {source="MONDO:equivalentTo"}
xref: UMLS:C3495537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501198"}
is_a: MONDO:0003847 {source="OMIM:270100"} ! hereditary disease
is_a: MONDO:0018677 {source="OMIM:270100"} ! visceral heterotaxy
intersection_of: MONDO:0018677 ! visceral heterotaxy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7865 ! NODAL
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2826" xsd:anyURI

[Term]
id: MONDO:0700113
name: Anaplasmataceae infectious disease, non-human animal
def: "Anaplasmataceae infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700050 ! bacterial infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006922 ! cross-species analog Anaplasmataceae infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700114
name: vector-borne disease, non-human animal
def: "Vector-borne disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0100120 ! cross-species analog vector-borne disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700115
name: proliferative vitreoretinopathy
def: "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." [MESH:D018630]
xref: MEDGEN:66167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D018630 {source="MONDO:equivalentTo"}
xref: SCTID:232016005 {source="MONDO:equivalentTo"}
xref: UMLS:C0242852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66167"}
is_a: MONDO:0005283 {source="https://orcid.org/0000-0002-4142-7153"} ! retinal disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4259" xsd:anyURI

[Term]
id: MONDO:0700116
name: microcephaly with lissencephaly and/or hydranencephaly
def: "A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present." [PMID:21529751, PMID:22526350]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0001149 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! NDE1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5582" xsd:anyURI

[Term]
id: MONDO:0700117
name: SLC6A3-related dopamine transporter deficiency syndrome
def: "A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood." [https://clinicalgenome.org/affiliation/40097/, PMID:21112253, PMID:24613933, PMID:28749637]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Dopamine transporter deficiency syndrome" EXACT [GARD:0010484]
synonym: "DTDS" EXACT ABBREVIATION [GARD:0010484]
xref: DOID:0070487 {source="MONDO:equivalentTo"}
is_a: MONDO:0005395 {source="PMID:21112253", source="PMID:24613933", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! movement disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11049 {source="https://clinicalgenome.org/affiliation/40097/"} ! SLC6A3
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5523" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia" xsd:anyURI {source="GARD:0010484"}

[Term]
id: MONDO:0700118
name: proximal chromosome 18q deletion syndrome
def: "Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18." [GARD:0010866]
subset: gard_rare {source="GARD:10866", source="MONDO:GARD"}
subset: rare
synonym: "proximal 18q deletion" EXACT [GARD:0010866]
synonym: "proximal 18q deletion syndrome" EXACT [GARD:0010866]
synonym: "proximal 18q-" EXACT [GARD:0010866]
xref: GARD:10866 {source="MONDO:GARD"}
xref: MEDGEN:1634938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4707101 {source="MEDGEN:1634938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011147 {source="GARD:0010866"} ! chromosome 18q deletion syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700119
name: distal chromosome 18q deletion syndrome
def: "Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18." [GARD:0010865]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "distal 18q deletion" EXACT [GARD:0010865]
synonym: "distal 18q deletion syndrome" EXACT [GARD:0010865]
synonym: "distal 18q-" EXACT [GARD:0010865]
xref: MEDGEN:1382173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4329736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1382173"}
is_a: MONDO:0011147 {source="GARD:0010865"} ! chromosome 18q deletion syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700120
name: BAFopathy
def: "Disorder caused by mutations in the various subunits composing the BAF complex." [PMID:30580808]
subset: otar {source="MONDO:OTAR"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0700121
name: ACTL6A-related BAFopathy
def: "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808]
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24124 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ACTL6A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0700122
name: PBRM1-related BAFopathy
def: "Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808]
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30064 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! PBRM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI

[Term]
id: MONDO:0700123
name: SMARCC1-associated developmental dysgenesis syndrome
def: "Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects." [https://www.clinicalgenome.org/affiliation/40020/]
subset: clingen {source="MONDO:CLINGEN"}
synonym: "SMARCC1-related BAFopathy" EXACT [PMID:30580808]
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11104 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6196" xsd:anyURI

[Term]
id: MONDO:0700124
name: chromosome 21 disorder
def: "Chromosomal disorder in which chromosome 21 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700125
name: chromosome 18 disorder
def: "Chromosomal disorder in which chromosome 18 is affected." [MONDO:patterns/chromosome_type]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0020049 ! autosomal anomaly
intersection_of: MONDO:0019040 ! chromosomal disorder
intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700126
name: trisomy 21
def: "A chromosomal disorder consisting of the presence of an extra chromosome 21." [MONDO:patterns/trisomy, PMID:29218069]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:760825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3537167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760825"}
is_a: MONDO:0008608 ! Down syndrome
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700127
name: mosaic trisomy 21
def: "Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism." [https://orcid.org/0000-0002-4142-7153, PMID:29218069]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:419386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2931324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419386"}
is_a: MONDO:0700126 {source="https://orcid.org/0000-0001-5208-3432"} ! trisomy 21
intersection_of: MONDO:0700065 ! trisomy
intersection_of: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human)
intersection_of: has_characteristic MONDO:0700062 ! mosaic
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700128
name: translocation Down syndrome
def: "Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome." [PMID:20691415, PMID:29218069]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Robertsonian Translocation Trisomy 21" NARROW [https://orcid.org/0000-0002-4142-7153]
xref: MEDGEN:693553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1269751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:693553"}
is_a: MONDO:0008608 {source="https://orcid.org/0000-0002-4142-7153"} ! Down syndrome
relationship: disease_arises_from_structure CHR:9606-chr21 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 21 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700129
name: mosaic translocation Down syndrome
def: "Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism." [https://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700128 {source="https://orcid.org/0000-0002-4142-7153"} ! translocation Down syndrome
intersection_of: MONDO:0700128 ! translocation Down syndrome
intersection_of: has_characteristic MONDO:0700062 ! mosaic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700130
name: partial segmental duplication
def: "A chromosomal disorder consisting of the partial duplication of chromosome 21." [https://orcid.org/0000-0002-4142-7153, PMID:29218069]
comment: The INCLUDE DCC proposes partial trisomy 21 should be known as partial segmental duplication of chromosome 21, but the term partial trisomy 21 is contradictory because trisomy means three, and there are not three chromosomes.
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "partial trisomy 21" EXACT [https://includedcc.org/]
synonym: "segmental duplication" BROAD [https://includedcc.org/]
is_a: MONDO:0008608 ! Down syndrome
intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication
intersection_of: disease_arises_from_structure CHR:9606-chr21 ! chromosome 21 (Human)
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5137" xsd:anyURI

[Term]
id: MONDO:0700131
name: sarcoma, non-human animal
def: "Sarcoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005089 ! cross-species analog sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700132
name: melanoma, non-human animal
def: "Melanoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002231 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002231"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:002231", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005105 ! cross-species analog melanoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:0700133
name: adenoma, non-human
def: "Adenoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004972 ! cross-species analog adenoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700134
name: bovine neoplasm
def: "A neoplasm that occurs in cattle." [NCIT:C134527]
xref: NCIT:C134527 {source="MONDO:equivalentTo"}
is_a: MONDO:0024913 {source="https://orcid.org/0000-0002-4142-7153"} ! cattle disease
is_a: MONDO:0700098 {source="NCIT:C134527"} ! neoplasm, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005070 ! cross-species analog neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700135
name: bovine leukemia
def: "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle" [NCIT:C131469]
xref: NCIT:C131469 {source="MONDO:equivalentTo"}
is_a: MONDO:0700134 {source="NCIT:C131469"} ! bovine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005059 ! cross-species analog leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700136
name: bovine protoporphyria
def: "A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle." [NCIT:C131472]
xref: NCIT:C131472 {source="MONDO:equivalentTo"}
is_a: MONDO:0700134 {source="NCIT:C131472"} ! bovine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700137
name: bovine lymphosarcoma
def: "Lymphosarcoma that occurs in a cow." [NCIT:C134767]
xref: NCIT:C134767 {source="MONDO:equivalentTo"}
is_a: MONDO:0700134 {source="NCIT:C134767"} ! bovine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0004638 ! cross-species analog lymphosarcoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700138
name: bovine rectal myxoma
def: "A myxoma that occurs in the rectum of a cow." [NCIT:C134768]
xref: NCIT:C134768 {source="MONDO:equivalentTo"}
is_a: MONDO:0700134 {source="NCIT:C134768"} ! bovine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700139
name: canine neoplasm
def: "A neoplasm that occurs in dogs." [NCIT:C134526]
xref: NCIT:C134526 {source="MONDO:equivalentTo"}
is_a: MONDO:0024919 {source="https://orcid.org/0000-0002-4142-7153"} ! dog disease
is_a: MONDO:0700098 {source="NCIT:C134526"} ! neoplasm, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005070 ! cross-species analog neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700140
name: canine osteosarcoma
def: "An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas." [NCIT:C120045]
synonym: "osteosarcoma, dog" EXACT [OMIA:001441-9615]
xref: NCIT:C120045 {source="MONDO:equivalentTo"}
xref: OMIA:001441-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C120045"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009807 ! cross-species analog osteosarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:0700141
name: canine melanoma
def: "Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma." [NCIT:C120298]
xref: NCIT:C120298 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C120298"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005105 ! cross-species analog melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700142
name: canine hemangiosarcoma
def: "Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause." [NCIT:C122783]
xref: NCIT:C122783 {source="MONDO:equivalentTo"}
xref: OMIA:001813-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C122783"} ! canine neoplasm
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0016982 ! cross-species analog angiosarcoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001813-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:0700143
name: canine mammary carcinoma
def: "Mammary carcinoma occurring in a dog." [NCIT:C124249]
xref: NCIT:C124249 {source="MONDO:equivalentTo"}
is_a: MONDO:0025483 {source="https://orcid.org/0000-0002-4142-7153"} ! mammary neoplasms, animal
is_a: MONDO:0700139 {source="NCIT:C124249"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004989 ! cross-species analog breast carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700144
name: canine leukemia
def: "An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood." [NCIT:C128120]
xref: NCIT:C128120 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C128120"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005059 ! cross-species analog leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700145
name: canine lymphoma
def: "A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites." [NCIT:C128121]
xref: NCIT:C128121 {source="MONDO:equivalentTo"}
xref: OMIA:001733-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:0700102 {source="OMIA:001733", source="https://orcid.org/0000-0002-5002-8648"} ! lymphoma, non-human animal
is_a: MONDO:0700139 {source="NCIT:C128121"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005062 ! cross-species analog lymphoma
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001733-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:0700146
name: canine prostate carcinoma
def: "A malignant epithelial neoplasm arising from the prostate gland of a dog." [NCIT:C128122]
xref: NCIT:C128122 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C128122"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005159 ! cross-species analog prostate carcinoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700147
name: canine histiocytic sarcoma
def: "A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." [NCIT:C128125]
xref: NCIT:C128125 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C128125"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019479 ! cross-species analog histiocytic sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700148
name: canine transitional cell carcinoma
def: "A malignant neoplasm that affects dogs, arising from transitional epithelium." [NCIT:C128126]
xref: NCIT:C128126 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C128126"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0006474 ! cross-species analog transitional cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700149
name: canine sarcoma
def: "A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels." [NCIT:C128195]
xref: NCIT:C128195 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C128195"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005089 ! cross-species analog sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700150
name: canine mastocytoma
def: "A tumor composed of mast cells that occurs in dogs." [NCIT:C129077]
xref: NCIT:C129077 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C129077"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0003079 ! cross-species analog mastocytoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700151
name: canine glioma
def: "A brain or spinal cord tumor arising from glial cells that occurs in dogs." [NCIT:C129297]
xref: NCIT:C129297 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C129297"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0021042 ! cross-species analog glioma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700152
name: canine hepatocellular carcinoma
def: "A malignant tumor arising from hepatocytes that occurs in dogs." [NCIT:C129298]
xref: NCIT:C129298 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C129298"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0007256 ! cross-species analog hepatocellular carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700153
name: canine lung adenocarcinoma
def: "A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells." [NCIT:C129299]
xref: NCIT:C129299 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C129299"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005061 ! cross-species analog lung adenocarcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700154
name: canine rhabdomyosarcoma
def: "A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs." [NCIT:C129300]
xref: NCIT:C129300 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C129300"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005212 ! cross-species analog rhabdomyosarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700155
name: canine thyroid adenocarcinoma
def: "Adeonocarcinoma of the thyroid gland occurring in a dog." [NCIT:C132275]
xref: NCIT:C132275 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C132275"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0024622 ! cross-species analog thyroid gland adenocarcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700156
name: canine soft tissue sarcoma
def: "Soft tissue sarcoma occurring in a dog." [NCIT:C132276]
xref: NCIT:C132276 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C132276"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018078 ! cross-species analog soft tissue sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700157
name: canine oral squamous cell carcinoma
def: "Oral squamous cell carcinoma that occurs in a dog." [NCIT:C132823]
xref: NCIT:C132823 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C132823"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004958 ! cross-species analog oral cavity squamous cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700158
name: canine pancreatic carcinoma
def: "Pancreatic carcinoma that occurs in a dog." [NCIT:C134944]
xref: NCIT:C134944 {source="MONDO:equivalentTo"}
is_a: MONDO:0700101 {source="https://orcid.org/0000-0002-4142-7153"} ! carcinoma, non-human animal
is_a: MONDO:0700139 {source="NCIT:C134944"} ! canine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700159
name: canine acanthomatous epulis
def: "A tumor arising from odontogenic epithelium and occurs in a dog." [NCIT:C134956]
xref: NCIT:C134956 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C134956"} ! canine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700160
name: canine mammary adenoma
def: "An adenoma arising from the mammary gland of a dog." [NCIT:C147073]
xref: NCIT:C147073 {source="MONDO:equivalentTo"}
is_a: MONDO:0025483 {source="https://orcid.org/0000-0002-4142-7153"} ! mammary neoplasms, animal
is_a: MONDO:0700133 {source="https://orcid.org/0000-0002-4142-7153"} ! adenoma, non-human
is_a: MONDO:0700139 {source="NCIT:C147073"} ! canine neoplasm
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700161
name: canine gastrointestinal stromal tumor
def: "A gastrointestinal stromal tumor occurring in a dog." [NCIT:C158783]
xref: NCIT:C158783 {source="MONDO:equivalentTo"}
xref: OMIA:001516-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C158783"} ! canine neoplasm
is_a: MONDO:1011440 {source="OMIA:001516", source="https://orcid.org/0000-0002-5002-8648"} ! gastrointestinal stromal tumour, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0011719 ! cross-species analog gastrointestinal stromal tumor
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001516-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:0700162
name: canine granular cell tumor
def: "A granular cell tumor occurring in a dog." [NCIT:C158784]
xref: NCIT:C158784 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C158784"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0006235 ! cross-species analog granular cell tumor
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700163
name: canine Langerhans cell histiocytosis
def: "Langerhans cell histiocytosis occurring in a dog." [NCIT:C158785]
xref: NCIT:C158785 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C158785"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018310 ! cross-species analog Langerhans cell histiocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700164
name: canine nephroblastoma
def: "A nephroblastoma occurring in a dog." [NCIT:C158786]
xref: NCIT:C158786 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C158786"} ! canine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700165
name: canine thyroid gland medullary carcinoma
def: "Thyroid gland medullary carcinoma occurring in a dog." [NCIT:C161006]
xref: NCIT:C161006 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C161006"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0015277 ! cross-species analog medullary thyroid gland carcinoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700166
name: canine transmissible venereal tumor
def: "A sexually transmitted tumor arising from histiocytes and occurring in dogs." [NCIT:C162473]
xref: NCIT:C162473 {source="MONDO:equivalentTo"}
is_a: MONDO:0025478 {source="https://orcid.org/0000-0002-4142-7153"} ! venereal tumors, veterinary
is_a: MONDO:0700139 {source="NCIT:C162473"} ! canine neoplasm
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700167
name: canine sebaceous gland epithelioma
def: "Sebaceous epithelioma occurring in a dog." [NCIT:C176701]
xref: NCIT:C176701 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C176701"} ! canine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700168
name: canine oral melanoma
def: "A melanoma that affects the lip and/or oral cavity of a dog." [NCIT:C185639]
xref: NCIT:C185639 {source="MONDO:equivalentTo"}
is_a: MONDO:0700132 {source="https://orcid.org/0000-0002-4142-7153"} ! melanoma, non-human animal
is_a: MONDO:0700139 {source="NCIT:C185639"} ! canine neoplasm
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700169
name: canine cutaneous t-cell lymphoma
def: "Cutaneous T-cell lymphoma occurring in a dog." [NCIT:C186279]
xref: NCIT:C186279 {source="MONDO:equivalentTo"}
is_a: MONDO:0700139 {source="NCIT:C186279"} ! canine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0000607 ! cross-species analog primary cutaneous T-cell non-Hodgkin lymphoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700170
name: equine neoplasm
def: "Neoplasm that occurs in a horse." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0024950 {source="https://orcid.org/0000-0002-4142-7153"} ! horse disease
is_a: MONDO:0700098 ! neoplasm, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9788 ! Equidae
intersection_of: MONDO:0700097 MONDO:0005070 ! cross-species analog neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700171
name: horse melanoma
def: "Melanoma that occurs in a horse." [NCIT:C134569]
xref: NCIT:C134569 {source="MONDO:equivalentTo"}
xref: OMIA:002231-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:0700132 {source="OMIA:002231", source="https://orcid.org/0000-0002-5002-8648"} ! melanoma, non-human animal
is_a: MONDO:0700170 {source="https://orcid.org/0000-0002-4142-7153"} ! equine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9788 ! Equidae
intersection_of: MONDO:0700097 MONDO:0005105 ! cross-species analog melanoma
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002231-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:0700172
name: horse lymphoma
def: "Lymphoma that occurs in a horse." [NCIT:C134778]
xref: NCIT:C134778 {source="MONDO:equivalentTo"}
is_a: MONDO:0700170 {source="https://orcid.org/0000-0002-4142-7153"} ! equine neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9788 ! Equidae
intersection_of: MONDO:0700097 MONDO:0005062 ! cross-species analog lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700173
name: horse sarcoid
def: "A fibroblastic tumor that occurs in the skin of a horse." [NCIT:C134995]
xref: NCIT:C134995 {source="MONDO:equivalentTo"}
is_a: MONDO:0700170 {source="https://orcid.org/0000-0002-4142-7153"} ! equine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700174
name: horse transitional cell carcinoma
def: "Transitional cell carcinoma that occurs in a horse." [NCIT:C173624]
xref: NCIT:C173624 {source="MONDO:equivalentTo"}
is_a: MONDO:0700101 {source="https://orcid.org/0000-0002-4142-7153"} ! carcinoma, non-human animal
is_a: MONDO:0700170 {source="https://orcid.org/0000-0002-4142-7153"} ! equine neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700175
name: feline neoplasm
def: "Neoplasm that occurs in a cat." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0024912 {source="https://orcid.org/0000-0002-4142-7153"} ! cat disease
is_a: MONDO:0700098 {source="https://orcid.org/0000-0002-4142-7153"} ! neoplasm, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0005070 ! cross-species analog neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700176
name: feline lymphoma
def: "A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus." [NCIT:C132193]
xref: NCIT:C132193 {source="MONDO:equivalentTo"}
xref: OMIA:001733-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:0700102 {source="OMIA:001733", source="https://orcid.org/0000-0002-5002-8648"} ! lymphoma, non-human animal
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0005062 ! cross-species analog lymphoma
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001733-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:0700177
name: feline mammary carcinoma
def: "Mammary carcinoma occurring in a cat." [NCIT:C132274]
xref: NCIT:C132274 {source="MONDO:equivalentTo"}
is_a: MONDO:0025483 {source="https://orcid.org/0000-0002-4142-7153"} ! mammary neoplasms, animal
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0004989 ! cross-species analog breast carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700178
name: feline oral squamous cell carcinoma
def: "Oral squamous cell carcinoma that occurs in a cat." [NCIT:C132824]
xref: NCIT:C132824 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0004958 ! cross-species analog oral cavity squamous cell carcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700179
name: feline osteosarcoma
def: "Osteosarcoma that occurs in a cat." [NCIT:C132825]
xref: NCIT:C132825 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0009807 ! cross-species analog osteosarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700180
name: feline bronchioloalveolar lung carcinoma
def: "Bronchioloalveolar lung carcinoma that occurs in a cat." [NCIT:C134559]
xref: NCIT:C134559 {source="MONDO:equivalentTo"}
is_a: MONDO:0700101 {source="https://orcid.org/0000-0002-4142-7153"} ! carcinoma, non-human animal
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700181
name: feline fibrosarcoma
def: "Fibrosarcoma that occurs in a cat." [NCIT:C134560]
xref: NCIT:C134560 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0005164 ! cross-species analog fibrosarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700182
name: feline erythroleukemia
def: "Erythroleukemia that occurs in a cat." [NCIT:C134770]
xref: NCIT:C134770 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700183
name: feline reticulum cell sarcoma
def: "Reticulum cell sarcoma that occurs in a cat." [NCIT:C135008]
xref: NCIT:C135008 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0009975 ! cross-species analog reticulum cell sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700184
name: feline large granular lymphocyte lymphoma
def: "A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat." [NCIT:C135724]
xref: NCIT:C135724 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700185
name: feline melanoma
def: "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat." [NCIT:C156362]
xref: NCIT:C156362 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0005105 ! cross-species analog melanoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700186
name: feline histiocytic sarcoma
def: "Histiocytic sarcoma occurring in a cat." [NCIT:C157503]
xref: NCIT:C157503 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0019479 ! cross-species analog histiocytic sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700187
name: feline progressive histiocytosis
def: "A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis." [NCIT:C176702]
xref: NCIT:C176702 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700188
name: feline synovial cell sarcoma
def: "Synovial cell sarcoma occurring in a cat." [NCIT:C181658]
xref: NCIT:C181658 {source="MONDO:equivalentTo"}
is_a: MONDO:0700175 {source="https://orcid.org/0000-0002-4142-7153"} ! feline neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9682 ! Felis
intersection_of: MONDO:0700097 MONDO:0010434 ! cross-species analog synovial sarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700189
name: chicken neoplasm
def: "A neoplasm that occurs in a chicken." [NCIT:C135005]
xref: NCIT:C135005 {source="MONDO:equivalentTo"}
is_a: MONDO:0025113 {source="https://orcid.org/0000-0002-4142-7153"} ! poultry disease
is_a: MONDO:0700098 {source="NCIT:C135005"} ! neoplasm, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0005070 ! cross-species analog neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700190
name: chicken bursal lymphoma
def: "A malignant lymphoma that arises in the bursa of Fabricius in a chicken." [NCIT:C134556]
xref: NCIT:C134556 {source="MONDO:equivalentTo"}
is_a: MONDO:0700102 {source="https://orcid.org/0000-0002-4142-7153"} ! lymphoma, non-human animal
is_a: MONDO:0700189 {source="NCIT:C134556"} ! chicken neoplasm
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700191
name: chicken fibrosarcoma
def: "Fibrosarcoma that occurs in a chicken." [NCIT:C134557]
xref: NCIT:C134557 {source="MONDO:equivalentTo"}
is_a: MONDO:0700189 {source="NCIT:C134557"} ! chicken neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0005164 ! cross-species analog fibrosarcoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700192
name: chicken hepatoma
def: "Hepatoma that occurs in a chicken." [NCIT:C134558]
xref: NCIT:C134558 {source="MONDO:equivalentTo"}
is_a: MONDO:0700189 {source="NCIT:C134558"} ! chicken neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700193
name: chicken monocytic leukemia
def: "Monocytic leukemia that occurs in a chicken." [NCIT:C134945]
xref: NCIT:C134945 {source="MONDO:equivalentTo"}
is_a: MONDO:0700189 {source="NCIT:C134945"} ! chicken neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0004600 ! cross-species analog monocytic leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700194
name: chicken lymphoma
def: "Lymphoma that occurs in a chicken." [NCIT:C135004]
xref: NCIT:C135004 {source="MONDO:equivalentTo"}
is_a: MONDO:0700189 {source="NCIT:C135004"} ! chicken neoplasm
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0005062 ! cross-species analog lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700195
name: rous sarcoma
def: "A fibrosarcoma, originally observed in a Plymouth Rock hen, now thought to be an expression of infection by certain viruses of the avian leukosis-sarcoma complex in the family" [NCIT:C17466]
xref: NCIT:C17466 {source="MONDO:equivalentTo"}
is_a: MONDO:0700191 {source="https://orcid.org/0000-0002-4142-7153"} ! chicken fibrosarcoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700196
name: fish melanoma
def: "Melanoma that occurs in a fish." [NCIT:C135006]
xref: NCIT:C135006 {source="MONDO:equivalentTo"}
is_a: MONDO:0024934 {source="https://orcid.org/0000-0002-4142-7153"} ! fish disease
is_a: MONDO:0700132 {source="https://orcid.org/0000-0002-4142-7153"} ! melanoma, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700197
name: porcine leukemia
def: "Leukemia that occurs in a pig." [NCIT:C141365]
xref: NCIT:C141365 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="https://orcid.org/0000-0002-4142-7153"} ! swine disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005059 ! cross-species analog leukemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700198
name: porcine lymphoma
def: "Lymphoma that occurs in a pig." [NCIT:C134786]
xref: NCIT:C134786 {source="MONDO:equivalentTo"}
is_a: MONDO:0024990 {source="https://orcid.org/0000-0002-4142-7153"} ! swine disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005062 ! cross-species analog lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700199
name: sheep lung adenocarcinoma
def: "Adenocarcinoma arising from the lung of a sheep." [NCIT:C147532]
xref: NCIT:C147532 {source="MONDO:equivalentTo"}
is_a: MONDO:0024985 {source="https://orcid.org/0000-0002-4142-7153"} ! sheep disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0005061 ! cross-species analog lung adenocarcinoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI

[Term]
id: MONDO:0700200
name: atypical dopamine transporter deficiency syndrome
def: "A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development." [https://clinicalgenome.org/affiliation/40097/, PMID:28749637]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "atypical DTDS" EXACT ABBREVIATION [GARD:0010484]
xref: DOID:0070488 {source="MONDO:equivalentTo"}
is_a: MONDO:0700117 {source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! SLC6A3-related dopamine transporter deficiency syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5523" xsd:anyURI

[Term]
id: MONDO:0700201
name: tick-borne infectious disease, non-human animal
def: "Tick-borne infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700114 ! vector-borne disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0025294 ! cross-species analog tick-borne infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700202
name: Bunyaviridae infectious disease, non-human animal
def: "Bunyaviridae infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021641 ! cross-species analog Bunyaviridae infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700203
name: pestivirus infectious disease, non-human animal
def: "Pestivirus infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005909 ! cross-species analog pestivirus infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700204
name: trichostrongyloidiasis, non-human animal
def: "Trichostrongyloidiasis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005994 ! cross-species analog trichostrongyloidiasis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700205
name: ehrlichiosis, non-human animal
def: "Ehrlichiosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700201 ! tick-borne infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016003 ! cross-species analog ehrlichiosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700206
name: Parvoviridae infectious disease, non-human animal
def: "Parvoviridae infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0025371 ! cross-species analog Parvoviridae infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700207
name: constitutional delay of growth and puberty
def: "Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion." [https://orcid.org/0000-0001-7151-1615, PMID:23087852]
xref: MEDGEN:575091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:237813007 {source="MONDO:equivalentTo"}
xref: UMLS:C0342538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:575091"}
is_a: MONDO:0021147 {source="PMID:23087852"} ! disorder of development or morphogenesis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5534" xsd:anyURI

[Term]
id: MONDO:0700208
name: Caliciviridae infectious disease, non-human animal
def: "Caliciviridae infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005687 ! cross-species analog Caliciviridae infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700209
name: Strongylida infectious disease, non-human animal
def: "Strongylida infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005973 ! cross-species analog Strongylida infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700210
name: enterovirus infectious disease, non-human animal
def: "Enterovirus infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005747 ! cross-species analog enterovirus infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700211
name: Erysipelothrix infectious disease, non-human animal
def: "Erysipelothrix infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006751 ! cross-species analog Erysipelothrix infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700212
name: tuberculosis, non-human animal
def: "Tuberculosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018076 ! cross-species analog tuberculosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700213
name: trypanosomiasis, non-human animal
def: "Trypanosomiasis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000940 ! cross-species analog trypanosomiasis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700214
name: Herpesviridae infectious disease, non-human animal
def: "Herpesviridae infectious disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0700049 {source="https://orcid.org/0000-0001-5208-3432"} ! infectious disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005794 ! cross-species analog Herpesviridae infectious disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700215
name: NTRK fusion positive cancer
def: "Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers." [https://orcid.org/0000-0001-7151-1615, PMID:30333516]
synonym: "neurotrophic tyrosine receptor kinase fusion positive cancer" EXACT [PMID:30333516]
synonym: "neurotrophic tyrosine receptor kinase fusion positive neoplasm" EXACT [PMID:30333516]
synonym: "neurotrophic tyrosine receptor kinase fusion positive solid tumor" EXACT [PMID:30333516]
synonym: "neurotrophic tyrosine receptor kinase fusion positive solid tumour" EXACT OMO:0003005 []
synonym: "NTRK fusion positive neoplasm" EXACT [PMID:30333516]
synonym: "NTRK fusion positive solid tumor" EXACT [PMID:30333516]
synonym: "NTRK fusion positive solid tumour" EXACT OMO:0003005 []
is_a: MONDO:0005070 {source="PMID:30333516"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_feature NCIT:C183255 ! NTRK Fusion Gene Positive
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5538" xsd:anyURI

[Term]
id: MONDO:0700216
name: RET fusion positive cancer
def: "Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors." [https://orcid.org/0000-0001-7151-1615, PMID:31715421]
synonym: "RET fusion positive neoplasm" EXACT [PMID:31715421]
synonym: "RET fusion positive solid tumor" EXACT [PMID:31715421]
synonym: "RET fusion positive solid tumour" EXACT OMO:0003005 []
is_a: MONDO:0005070 {source="PMID:31715421"} ! neoplasm
intersection_of: MONDO:0005070 ! neoplasm
intersection_of: disease_has_feature NCIT:C131069 ! RET Fusion Positive
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5538" xsd:anyURI

[Term]
id: MONDO:0700217
name: neonatal sepsis
def: "Bacterial infection in the bloodstream of newborn infants younger than 28 days old." [https://orcid.org/0000-0001-7151-1615, PMID:30285373]
xref: MEDGEN:96816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0456103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96816"}
is_a: MONDO:0005229 {source="PMID:30285373"} ! bacterial infectious disease with sepsis
is_a: MONDO:1040015 {source="PMID:26903338"} ! infectious disease with sepsis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5533" xsd:anyURI

[Term]
id: MONDO:0700218
name: group B streptococcal infection
def: "A disease caused by infection with Group B Streptococcus." [MONDO:patterns/infectious_disease_by_agent]
xref: MEDGEN:378336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C87168 {source="MONDO:equivalentTo"}
xref: UMLS:C2020625 {source="MEDGEN:378336", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005113 {source="https://orcid.org/0000-0002-4142-7153"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1319 ! Streptococcus sp. 'group B'
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5533" xsd:anyURI

[Term]
id: MONDO:0700219
name: neoplastic meningitis
def: "Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia." [https://orcid.org/0000-0001-7151-1615, PMID:29535794]
synonym: "carcinomatous meningitis" EXACT [PMID:29535794]
synonym: "leptomeningeal carcinoma" EXACT [PMID:29535794]
synonym: "leptomeningeal carcinomatosis" EXACT [PMID:29535794]
synonym: "leptomeningeal metastasis" EXACT [PMID:29535794]
synonym: "meningeal carcinomatosis" EXACT [PMID:29535794]
synonym: "meningeal metastasis" EXACT [PMID:29535794]
synonym: "metastatic malignant neoplasm in the leptomeninges" EXACT [NCIT:C3814]
xref: MEDGEN:352817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C3814 {source="MONDO:equivalentTo"}
xref: UMLS:C1704231 {source="MEDGEN:352817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024880 {source="NCIT:C3814", source="PMID:29535794"} ! metastatic malignant neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5495" xsd:string

[Term]
id: MONDO:0700220
name: disease related to transplantation
def: "Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation." [https://orcid.org/0000-0001-7151-1615]
subset: gard_rare {source="GARD:21259", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:306644"}
subset: orphanet_rare {source="Orphanet:306644"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: GARD:21259 {source="MONDO:GARD"}
xref: MEDGEN:745174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:306644 {source="MONDO:equivalentTo"}
xref: UMLS:C1998172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:745174"}
is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-7151-1615"} ! human disease
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5525" xsd:anyURI

[Term]
id: MONDO:0700221
name: disease related to solid organ transplantation
def: "Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ transplant, or as a consequence of the transplantation." [https://orcid.org/0000-0001-7151-1615]
comment: This disease can be related to complications of solid organ transplantation include delayed graft function, rejection, and ischemia/reperfusion injury.
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700220 {source="https://orcid.org/0000-0001-7151-1615"} ! disease related to transplantation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5525" xsd:anyURI

[Term]
id: MONDO:0700222
name: disease related to hematopoietic stem cell transplant
def: "Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation." [https://orcid.org/0000-0001-7151-1615]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700220 {source="https://orcid.org/0000-0001-7151-1615"} ! disease related to transplantation
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5525" xsd:anyURI

[Term]
id: MONDO:0700223
name: hereditary skeletal muscle disorder
def: "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "genetic muscle disease" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "genetic muscle disorder" EXACT []
synonym: "genetic muscular disease" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "genetic muscular disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "hereditary muscle disorder" EXACT [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0736-9199"} ! hereditary disease
is_a: MONDO:0020120 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! skeletal muscle disorder
intersection_of: MONDO:0020120 ! skeletal muscle disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI

[Term]
id: MONDO:0700224
name: PDE6A-related retinopathy
def: "Any retinopathy caused by variants in the PDE6A gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PDE6A-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8785 ! PDE6A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700225
name: hereditary gallbladder disorder
def: "An instance of gallbladder disorder that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary]
xref: OMIMPS:600803 {source="MONDO:equivalentTo"}
is_a: MONDO:0005281 {source="https://orcid.org/0000-0002-4142-7153"} ! gallbladder disorder
intersection_of: MONDO:0005281 ! gallbladder disorder
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600803"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6008" xsd:anyURI

[Term]
id: MONDO:0700226
name: food allergy
def: "Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." [MESH:D005512]
subset: otar {source="MONDO:OTAR"}
synonym: "allergic disease from food material" EXACT []
synonym: "allergy of food material" EXACT [MONDO:patterns/allergy]
synonym: "food hypersensitivity" EXACT [DOID:3044]
synonym: "food material allergic disease" EXACT [MONDO:patterns/environmental_stimulus]
xref: DOID:3044 {source="MONDO:equivalentTo"}
xref: EFO:1001890 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1635115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D005512 {source="DOID:3044", source="MONDO:equivalentTo"}
xref: SCTID:157801005 {source="DOID:3044"}
xref: SCTID:213018006 {source="DOID:3044"}
xref: SCTID:414285001 {source="DOID:3044", source="MONDO:equivalentTo"}
xref: SCTID:52332009 {source="DOID:3044"}
xref: UMLS:C4554344 {source="MEDGEN:1635115", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005271 {source="https://orcid.org/0000-0002-4142-7153"} ! allergic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5914" xsd:anyURI

[Term]
id: MONDO:0700227
name: ELOVL4-related maculopathy
def: "Any maculopathy caused by a variant in the ELOVL4 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ELOVL4-related maculopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14415 ! ELOVL4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700228
name: LRP5-related exudative vitreoretinopathy
def: "Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LRP5-related exudative vitreoretinopathy with or without osteoporosis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019516 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! exudative vitreoretinopathy
intersection_of: MONDO:0019516 ! exudative vitreoretinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 ! LRP5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700229
name: MAK-related retinopathy
def: "Any retinopathy caused by variants in the MAK gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MAK-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6816 ! MAK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700230
name: GPR143-related foveal hypoplasia
def: "Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
synonym: "GPR143-related foveal hypoplasia with or without albinism" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0044203 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! foveal hypoplasia
intersection_of: MONDO:0044203 ! foveal hypoplasia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 ! GPR143
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700231
name: TSPAN12-related exudative vitreoretinopathy
def: "Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "TSPAN12-related exudative vitreoretinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019516 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! exudative vitreoretinopathy
intersection_of: MONDO:0019516 ! exudative vitreoretinopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21641 ! TSPAN12
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700232
name: KIZ-related retinopathy
def: "Any retinopathy caused by variants in the KIZ gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "KIZ-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15865 ! KIZ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700233
name: TOPORS-related retinopathy
def: "Any retinopathy caused by a variant in the TOPORS gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "TOPORS-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21653 ! TOPORS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700234
name: PRPF8-related retinopathy
def: "Any retinopathy caused by a variant in the PRPF8 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PRPF8-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17340 ! PRPF8
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700235
name: RD3-related retinopathy
def: "Any retinopathy caused by variants in the RD3 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "RD3-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19689 ! RD3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700236
name: BBS9-related ciliopathy
def: "Any ciliopathy caused by variants in the BBS9 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BBS9-related ciliopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0005308 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! ciliopathy
intersection_of: MONDO:0005308 ! ciliopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30000 ! BBS9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700237
name: BBS10-related ciliopathy
def: "Any ciliopathy caused by variants in the BBS10 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BBS10-related ciliopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0005308 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! ciliopathy
intersection_of: MONDO:0005308 ! ciliopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26291 ! BBS10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700238
name: BEST1-related dominant retinopathy
def: "Any retinopathy caused by a heterozygous variant in the BEST1 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BEST1-related dominant retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700239
name: BEST1-related recessive retinopathy
def: "Any retinopathy caused by bi-allelic variants in the BEST1 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BEST1-related recessive retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700240
name: BEST1-related vitreoretinochoroidopathy
def: "Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ADVRIC" EXACT [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/, PMID:18611979, PMID:36712704]
synonym: "BEST1-related vitreoretinochoroidopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0020248 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! vitreoretinal degeneration
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700241
name: IMPG2-related recessive retinopathy
def: "Any retinopathy caused by bi-allelic variants in the IMPG2 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "IMPG2-related recessive retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700242
name: IMPG2-related dominant retinopathy
def: "Any retinopathy caused by a heterozygous variant in the IMPG2 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "IMPG2-related dominant retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700243
name: CACNA1F-related retinopathy
def: "Any retinopathy caused by a variant in the CACNA1F gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CACNA1F-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 ! CACNA1F
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700244
name: CACNA2D4-related retinopathy
def: "Any retinopathy caused by variants in the CACNA2D4 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CACNA2D4-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy
intersection_of: MONDO:0019118 ! inherited retinal dystrophy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 ! CACNA2D4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI

[Term]
id: MONDO:0700245
name: epidermolytic hyperkeratosis 2B, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620707 {source="MONDO:equivalentTo"}
is_a: MONDO:0044742 {source="https://orcid.org/0000-0002-4142-7153"} ! autosomal recessive epidermolytic ichthyosis
is_a: MONDO:0958184 {source="OMIM:620707"} ! epidermolytic hyperkeratosis 2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI

[Term]
id: MONDO:0700246
name: ocular dysgenesis caused by defects in PAX6 regulation
def: "Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene." [https://clinicalgenome.org/affiliation/40077/, https://orcid.org/0000-0001-5935-2391, PMID:17679951, PMID:24290376, PMID:26394807]
comment: This term was proposed by the ClinGen Glaucoma / Neuro-Ophthalmology GCEP as a parent term for cases of ocular disease caused by variants in the PAX6 gene itself (MONDO:0800183 PAX6-related ocular dysgenesis) or by disruption of PAX6 expression by variants in the ELP4 locus (MONDO:0014937 aniridia 2) or TRIM44 locus (MONDO:0014938 aniridia 3).
is_a: MONDO:0005328 {source="https://clinicalgenome.org/affiliation/40077/", source="https://orcid.org/0000-0001-5935-2391"} ! eye disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7066" xsd:anyURI

[Term]
id: MONDO:0700247
name: RAB18 deficiency
def: "Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus." [https://www.clinicalgenome.org/affiliation/40020/, https://www.ncbi.nlm.nih.gov/books/NBK475670/]
comment: RAB18 deficiency results from biallelic pathogenic variants in RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20. Studies suggest that variation(s) in these genes affect RAB18 regular function. (https://www.ncbi.nlm.nih.gov/books/NBK475670/)
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "Warburg micro spectrum" EXACT [https://www.clinicalgenome.org/affiliation/40020/]
xref: MEDGEN:1650928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4750414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1650928"}
is_a: MONDO:0003847 {source="https://www.clinicalgenome.org/affiliation/40020/", source="https://www.ncbi.nlm.nih.gov/books/NBK475670/"} ! hereditary disease
is_a: MONDO:0016073 {source="https://www.clinicalgenome.org/affiliation/40020/", source="https://www.ncbi.nlm.nih.gov/books/NBK475670/"} ! syndromic microphthalmia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6942" xsd:anyURI

[Term]
id: MONDO:0700248
name: epidermolytic hyperkeratosis 2A, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620150 {source="MONDO:equivalentTo"}
is_a: MONDO:0020702 {source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant epidermolytic ichthyosis
is_a: MONDO:0958184 {source="OMIM:620150"} ! epidermolytic hyperkeratosis 2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI

[Term]
id: MONDO:0700249
name: epidermolytic hyperkeratosis 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081358 {source="MONDO:equivalentTo"}
xref: MEDGEN:1826137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:113800 {source="MONDO:equivalentTo"}
xref: UMLS:C5781874 {source="MEDGEN:1826137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007239 {source="OMIM:113800"} ! epidermolytic ichthyosis
intersection_of: MONDO:0007239 ! epidermolytic ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 ! KRT1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI

[Term]
id: MONDO:0700250
name: mitochondrial complex IV deficiency, nuclear type 1
subset: gard_rare {source="GARD:15158", source="MONDO:GARD"}
subset: rare
xref: DOID:0070491 {source="MONDO:equivalentTo"}
xref: GARD:15158 {source="MONDO:GARD"}
xref: MEDGEN:1750917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:220110 {source="MONDO:equivalentTo"}
xref: UMLS:C5435656 {source="MEDGEN:1750917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0033885 {source="OMIM:220110"} ! mitochondrial complex IV deficiency, nuclear-type
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700251
name: orofacial cleft 7
xref: DOID:0080400 {source="MONDO:equivalentTo"}
xref: MEDGEN:371589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:225060 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1833538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371589"}
is_a: MONDO:0000358 {source="OMIM:225060"} ! orofacial cleft
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700252
name: parneoplastic endocrine syndrome
def: "Paraneoplastic syndrome that involves the endocrine system." [MONDO:patterns/location]
is_a: MONDO:0021073 {source="PMID:29939667", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic syndrome
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: disease_has_location UBERON:0000949 ! endocrine system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7460" xsd:anyURI

[Term]
id: MONDO:0700253
name: paraneoplastic hematological syndrome
def: "Paraneoplastic syndrome that involves the hematopoietic system." [MONDO:patterns/location]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0021073 {source="PMID:29939667", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic syndrome
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: disease_has_location UBERON:0002390 ! hematopoietic system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7460" xsd:anyURI

[Term]
id: MONDO:0700254
name: paraneoplastic gastrointestinal syndrome
def: "Paraneoplastic syndrome that involves the digestive system." [MONDO:patterns/location]
is_a: MONDO:0021073 {source="PMID:29939667", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic syndrome
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: disease_has_location UBERON:0001007 ! digestive system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7460" xsd:anyURI

[Term]
id: MONDO:0700255
name: paraneoplastic renal syndrome
def: "Paraneoplastic syndrome that involves the renal system." [MONDO:patterns/location]
is_a: MONDO:0021073 {source="PMID:29939667", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic syndrome
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: disease_has_location UBERON:0001008 ! renal system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7460" xsd:anyURI

[Term]
id: MONDO:0700256
name: TREX1-related type 1 interferonopathy
def: "Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700264 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! type 1 interferonopathy
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 ! TREX1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700257
name: RNASEH2B-related type 1 interferonopathy
def: "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700264 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! type 1 interferonopathy
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25671 ! RNASEH2B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700258
name: RNASEH2C-related type 1 interferonopathy
def: "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700264 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! type 1 interferonopathy
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24116 ! RNASEH2C
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700259
name: RNASEH2A-related type 1 interferonopathy
def: "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700264 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! type 1 interferonopathy
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18518 ! RNASEH2A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700260
name: SAMHD1-related type 1 interferonopathy
def: "Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700264 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! type 1 interferonopathy
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15925 ! SAMHD1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700261
name: ADAR-related type 1 interferonopathy
def: "Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700264 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! type 1 interferonopathy
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/225 ! ADAR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700262
name: IFIH1-related type 1 interferonopathy
def: "Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700264 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! type 1 interferonopathy
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18873 ! IFIH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700263
name: RNU7-1-related type 1 interferonopathy
def: "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0700264 {source="https://clinicalgenome.org/affiliation/40060/", source="https://clinicalgenome.org/affiliation/40107/", source="https://clinicalgenome.org/affiliation/40123/"} ! type 1 interferonopathy
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34033 ! RNU7-1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700264
name: type 1 interferonopathy
def: "Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response." [https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40107/, https://clinicalgenome.org/affiliation/40123/]
subset: gard_rare {source="GARD:21957", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:477647"}
subset: rare
xref: GARD:21957 {source="MONDO:GARD"}
xref: MEDGEN:1842334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:477647 {source="MONDO:equivalentTo"}
xref: UMLS:C5681258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842334"}
is_a: MONDO:0019751 {source="PMID:37161741", source="https://orcid.org/0000-0002-4142-7153"} ! autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0700265
name: paraneoplastic rheumatic syndrome
def: "Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue." [MONDO:patterns/location]
is_a: MONDO:0021073 {source="PMID:29939667", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7460" xsd:anyURI

[Term]
id: MONDO:0700266
name: paraneoplastic cutaneous syndrome
def: "Paraneoplastic syndrome that involves the integumental system." [MONDO:patterns/location]
is_a: MONDO:0021073 {source="PMID:29939667", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic syndrome
intersection_of: MONDO:0021073 ! paraneoplastic syndrome
intersection_of: disease_has_location UBERON:0002416 ! integumental system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7460" xsd:anyURI

[Term]
id: MONDO:0700267
name: BARD1-related cancer predisposition
def: "Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma." [https://clinicalgenome.org/affiliation/40023/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/952 ! BARD1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0700268
name: BRCA1-related cancer predisposition
def: "Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described." [https://clinicalgenome.org/affiliation/40023/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1100 ! BRCA1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0700269
name: BRCA2-related cancer predisposition
def: "Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described." [https://clinicalgenome.org/affiliation/40023/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 ! BRCA2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153

[Term]
id: MONDO:0700270
name: ATM-related cancer predisposition
def: "Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer." [https://clinicalgenome.org/affiliation/40023/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/795 ! ATM
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0700271
name: CHEK2-related cancer predisposition
def: "Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer." [https://clinicalgenome.org/affiliation/40023/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16627 ! CHEK2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0700272
name: PALB2-related cancer predisposition
def: "Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer." [https://clinicalgenome.org/affiliation/40023/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26144 ! PALB2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0700273
name: RAD51C-related cancer predisposition
def: "Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer." [https://clinicalgenome.org/affiliation/40023/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9820 ! RAD51C
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0700274
name: RAD51D-related cancer predisposition
def: "Hereditary cancer predisposition due to variation(s) in the RAD51D gene. Pathogenic germline variation in RAD51D confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer." [https://clinicalgenome.org/affiliation/40023/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015356 {source="https://clinicalgenome.org/affiliation/40023/"} ! hereditary neoplastic syndrome
intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9823 ! RAD51D
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6515" xsd:anyURI

[Term]
id: MONDO:0800001
name: delayed sleep phase syndrome, susceptibility to
def: "An inherited susceptibility or predisposition to developing delayed sleep phase syndrome." [MONDO:patterns/inherited_susceptibility]
synonym: "delayed sleep phase disorder, susceptibility to" EXACT [OMIM:614163, OMIM:genemap2]
xref: MEDGEN:481621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614163 {source="MONDO:equivalentTo"}
xref: UMLS:C3279991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481621"}
is_a: MONDO:0020573 {source="OMIM:614163"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2384 ! CRY1
intersection_of: predisposes_towards MONDO:0024361 ! circadian rhythm sleep disorder
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8314-2140
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2863" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0800025
name: Teebi hypertelorism syndrome 1
def: "A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes." [https://orcid.org/0000-0001-5208-3432, Orphanet:1519]
subset: gard_rare {source="GARD:957", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1519"}
subset: ordo_malformation_syndrome {source="Orphanet:1519"}
subset: orphanet_rare {source="Orphanet:1519"}
subset: rare
synonym: "Brachycephalofrontonasal dysplasia" EXACT [OMIM:145420, Orphanet:1519]
synonym: "craniofrontonasal dysplasia, Teebi type" EXACT [Orphanet:1519]
synonym: "hypertelorism, Teebi type" BROAD [OMIM:145420]
synonym: "Teebi hypertelorism syndrome" BROAD [Orphanet:1519]
synonym: "Teebi syndrome" BROAD [Orphanet:1519]
xref: DOID:0080698 {source="MONDO:equivalentTo"}
xref: GARD:957 {source="MONDO:GARD"}
xref: ICD10CM:Q87.0 {source="Orphanet:1519/attributed", source="Orphanet:1519/ntbt", source="Orphanet:1519"}
xref: OMIM:145420 {source="Orphanet:1519/e", source="MONDO:equivalentTo", source="Orphanet:1519"}
xref: Orphanet:1519 {source="MONDO:equivalentTo", source="OMIM:145420"}
xref: SCTID:724284005 {source="MONDO:equivalentTo"}
is_a: MONDO:0030639 {source="OMIM:145420"} ! Teebi hypertelorism syndrome
intersection_of: MONDO:0030639 ! Teebi hypertelorism syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29022 ! SPECC1L
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0800026
name: central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
def: "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." [Orphanet:661]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8535", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:661"}
subset: orphanet_rare {source="Orphanet:661"}
subset: rare
synonym: "autonomic control, congenital failure of" EXACT [OMIM:209880]
synonym: "CCHS" EXACT ABBREVIATION [DOID:0060731, MONDO:Lexical, OMIM:209880, Orphanet:661]
synonym: "CCHS with Hirschsprung disease" RELATED [OMIM:209880]
synonym: "central congenital hypoventilation syndrome" EXACT [DOID:0060731, Orphanet:661]
synonym: "central hypoventilation syndrome, congenital" RELATED [MONDO:Lexical, OMIM:209880]
synonym: "congenital central alveolar hypoventilation syndrome" EXACT [DOID:0060731, Orphanet:661]
synonym: "congenital central hypoventilation" EXACT [NCIT:C98889]
synonym: "congenital central hypoventilation syndrome" EXACT CLINGEN_LABEL []
synonym: "congenital failure of autonomic control" RELATED [GARD:0008535]
synonym: "congenital Ondine curse" EXACT [GARD:0008535]
synonym: "Haddad syndrome" RELATED [OMIM:209880]
synonym: "idiopathic congenital central alveolar hypoventilation" RELATED [GARD:0008535]
synonym: "Ondine curse" EXACT [DOID:0060731, Orphanet:661]
synonym: "Ondine curse (formerly)" RELATED [GARD:0008535]
synonym: "Ondine curse, congenital" EXACT [OMIM:209880]
synonym: "Ondine syndrome" EXACT [DOID:0060731]
synonym: "Ondine's curse (formerly)" RELATED [GARD:0008535]
synonym: "Ondine-Hirschsprung disease" RELATED [OMIM:209880]
synonym: "primary alveolar hypoventilation" RELATED [GARD:0008535]
xref: DOID:0060731 {source="MONDO:equivalentTo"}
xref: GARD:8535 {source="MONDO:GARD"}
xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="DOID:0060731", source="Orphanet:661/ntbt", source="Orphanet:661/inclusion", source="Orphanet:661"}
xref: icd11.foundation:1750742010 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:661"}
xref: MedDRA:10007982 {source="Orphanet:661/e", source="Orphanet:661"}
xref: MedDRA:10066131 {source="Orphanet:661/e", source="Orphanet:661"}
xref: MEDGEN:1794285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C98889 {source="MONDO:equivalentTo"}
xref: OMIM:209880 {source="Orphanet:661/e", source="MONDO:equivalentTo", source="DOID:0060731", source="Orphanet:661"}
xref: Orphanet:661 {source="MONDO:equivalentTo", source="DOID:0060731", source="OMIM:209880"}
xref: Orphanet:99803 {source="OMIM:209880"}
xref: SCTID:230499002 {source="MONDO:equivalentTo"}
xref: UMLS:C5562075 {source="MEDGEN:1794285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001292 {source="Orphanet:661"} ! autonomic nervous system disorder
is_a: MONDO:0002254 {source="MONDO:0008852", source="NCIT:C98889"} ! syndromic disease
is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy
is_a: MONDO:0800031 {source="OMIM:209880"} ! central hypoventilation syndrome, congenital
intersection_of: MONDO:0800031 ! central hypoventilation syndrome, congenital
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9143 ! PHOX2B
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0018557"} ! rare
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome" xsd:string {source="GARD:0008535"}

[Term]
id: MONDO:0800027
name: leukoencephalopathy, diffuse hereditary, with spheroids 1
def: "A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." [https://orcid.org/0000-0001-5208-3432, Orphanet:313808]
subset: gard_rare {source="GARD:10981", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2033"}
subset: ordo_disorder {source="Orphanet:313808"}
subset: orphanet_rare {source="Orphanet:313808"}
subset: rare
synonym: "adult-onset leukodystrophy with neuroaxonal spheroids" RELATED [GARD:0010981]
synonym: "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia" EXACT [NORD:2033]
synonym: "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" EXACT [Orphanet:313808]
synonym: "ALSP" EXACT ABBREVIATION [Orphanet:313808]
synonym: "autosomal dominant leukoencephalopathy with neuroaxonal spheroids" EXACT [Orphanet:313808]
synonym: "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK100239/]
synonym: "CSF1R-related ALSP" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK100239/]
synonym: "dementia, familial, Neumann type" EXACT [OMIM:221820]
synonym: "familial dementia, Neumann type" EXACT [Orphanet:313808]
synonym: "familial progressive subcortical gliosis" EXACT [Orphanet:313808]
synonym: "FPSG" EXACT ABBREVIATION [Orphanet:313808]
synonym: "gliosis, familial progressive subcortical" EXACT [OMIM:221820]
synonym: "GPSC" EXACT ABBREVIATION [Orphanet:313808]
synonym: "HDLS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:221820, Orphanet:313808]
synonym: "hereditary diffuse leukoencephalopathy with axonal spheroids" RELATED [GARD:0010981]
synonym: "hereditary diffuse leukoencephalopathy with spheroids" BROAD [Orphanet:313808]
synonym: "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant" EXACT [OMIM:221820]
synonym: "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia" EXACT [OMIM:221820]
synonym: "leukoencephalopathy, diffuse hereditary, with spheroids" BROAD [MONDO:Lexical, OMIM:221820]
synonym: "leukoencephalopathy, hereditary diffuse, with spheroids" BROAD [OMIM:221820]
synonym: "neuroaxonal leukodystrophy" RELATED [GARD:0010981]
synonym: "pigmentary orthochromatic leukodystrophy" EXACT [Orphanet:313808]
synonym: "POLD" EXACT ABBREVIATION [Orphanet:313808]
synonym: "subcortical gliosis of Neumann" EXACT [OMIM:221820, Orphanet:313808]
xref: DOID:0080523 {source="MONDO:equivalentTo"}
xref: GARD:10981 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:313808/attributed", source="Orphanet:313808/ntbt", source="Orphanet:313808"}
xref: ICD9:323.81 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1794139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C580150 {source="MONDO:equivalentTo"}
xref: NCIT:C153289 {source="MONDO:equivalentTo"}
xref: NORD:2033 {source="MONDO:NORD"}
xref: OMIM:221820 {source="Orphanet:313808/e", source="MONDO:equivalentTo", source="Orphanet:313808"}
xref: Orphanet:313808 {source="MONDO:equivalentTo", source="OMIM:221820"}
xref: SCTID:702427005 {source="MONDO:equivalentTo"}
xref: UMLS:C5561929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794139"}
is_a: MONDO:0019046 {source="Orphanet:313808"} ! leukodystrophy
is_a: MONDO:0030796 {source="OMIM:221820"} ! leukoencephalopathy, hereditary diffuse, with spheroids
intersection_of: MONDO:0030796 ! leukoencephalopathy, hereditary diffuse, with spheroids
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2433 ! CSF1R
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-8314-2140
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7146" xsd:anyURI

[Term]
id: MONDO:0800028
name: dyskinesia with orofacial involvement, autosomal dominant
def: "A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." [https://orcid.org/0000-0001-5208-3432, Orphanet:324588]
subset: gard_rare {source="GARD:12722", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:324588"}
subset: orphanet_rare {source="Orphanet:324588"}
subset: rare
synonym: "ADCY5-related dyskinesia" RELATED [GARD:0012722]
synonym: "dyskinesia, familial, with facial myokymia" EXACT [MONDO:Lexical, OMIM:606703]
synonym: "FDFM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606703, Orphanet:324588]
xref: GARD:12722 {source="MONDO:GARD"}
xref: ICD10CM:G51.4 {source="Orphanet:324588/attributed", source="Orphanet:324588/ntbt", source="MONDO:relatedTo", source="Orphanet:324588"}
xref: MEDGEN:1790407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C564676 {source="MONDO:equivalentTo"}
xref: OMIM:606703 {source="Orphanet:324588", source="MONDO:equivalentTo", source="Orphanet:324588/e"}
xref: Orphanet:324588 {source="OMIM:606703", source="MONDO:equivalentTo"}
xref: SCTID:763352005 {source="MONDO:equivalentTo"}
xref: UMLS:C5551343 {source="MEDGEN:1790407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005395 {source="MONDO:0017657-obsoleted"} ! movement disorder
is_a: MONDO:0031115 {source="OMIM:606703"} ! dyskinesia with orofacial involvement
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/236 {source="MONDO:mim2gene_medgen"} ! ADCY5

[Term]
id: MONDO:0800029
name: interstitial lung disease 2
def: "A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." [https://orcid.org/0000-0001-5208-3432, Orphanet:2032]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:8609", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1296"}
subset: ordo_disorder {source="Orphanet:2032"}
subset: orphanet_rare {source="Orphanet:2032"}
subset: rare
synonym: "CFA" EXACT ABBREVIATION [Orphanet:2032]
synonym: "cryptogenic fibrosing alveolitis" EXACT [DOID:0050156, Orphanet:2032]
synonym: "familial idiopathic pulmonary fibrosis" RELATED [GARD:0008609]
synonym: "fibrocystic pulmonary dysplasia" EXACT [DOID:0050156, OMIM:178500]
synonym: "fibrosing alveolitis" RELATED [GARD:0008609]
synonym: "fibrosing alveolitis, cryptogenic" EXACT [OMIM:178500]
synonym: "Hamman-rich disease" NARROW [OMIM:178500]
synonym: "Idiopathic Pulmonary Fibrosis" EXACT [NORD:1296]
synonym: "idiopathic pulmonary fibrosis, familial" EXACT [DOID:0050156, OMIM:178500]
synonym: "ILD2" EXACT ABBREVIATION [OMIM:178500]
synonym: "interstitial pneumonitis, usual" EXACT [OMIM:178500]
synonym: "IPF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:178500]
synonym: "pulmonary fibrosis, idiopathic" RELATED [MONDO:Lexical, OMIM:178500]
synonym: "UIP" EXACT ABBREVIATION [Orphanet:2032]
synonym: "usual interstitial pneumonia" EXACT [Orphanet:2032]
xref: DOID:0050156 {source="MONDO:equivalentTo", source="EFO:0000768"}
xref: GARD:8609 {source="MONDO:GARD"}
xref: ICD10CM:J84.1 {source="Orphanet:2032/ntbt", source="Orphanet:2032"}
xref: ICD10CM:J84.112 {source="DOID:0050156", source="MONDO:equivalentTo"}
xref: ICD9:516.31 {source="DOID:0050156", source="EFO:0000768"}
xref: MedDRA:10021240 {source="Orphanet:2032/e", source="Orphanet:2032"}
xref: MEDGEN:1794136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D054990 {source="DOID:0050156", source="Orphanet:2032/e", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032"}
xref: NCIT:C35715 {source="DOID:0050156"}
xref: NCIT:C35716 {source="DOID:0050156", source="MONDO:equivalentTo", source="EFO:0000768"}
xref: NORD:1296 {source="MONDO:NORD"}
xref: OMIM:178500 {source="DOID:0050156", source="Orphanet:2032/e", source="MONDO:equivalentTo", source="EFO:0000768", source="Orphanet:2032"}
xref: Orphanet:2032 {source="MONDO:equivalentTo", source="OMIM:178500"}
xref: Orphanet:79126 {source="MONDO:relatedTo", source="OMIM:178500"}
xref: SCTID:196125002 {source="DOID:0050156", source="MONDO:equivalentTo"}
xref: SCTID:233721005 {source="DOID:0050156"}
xref: SCTID:237121003 {source="DOID:0050156"}
xref: SCTID:28168000 {source="DOID:0050156"}
xref: SCTID:426437004 {source="DOID:0050156"}
xref: SCTID:700250006 {source="EFO:0000768"}
xref: UMLS:C5561926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794136"}
is_a: MONDO:0002429 {source="DOID:0050156", source="MESH:D054990", source="MONDO:0008345", source="Orphanet:2032", source="https://en.wikipedia.org/wiki/Idiopathic_interstitial_pneumonia"} ! idiopathic interstitial pneumonia
is_a: MONDO:0002771 {source="MESH:D054990", source="NCIT:C35716"} ! pulmonary fibrosis
is_a: MONDO:0031199 {source="OMIM:619611"} ! inherited interstitial lung disease
is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome
intersection_of: MONDO:0031199 ! inherited interstitial lung disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10799 ! SFTPA2
relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis" xsd:anyURI {source="GARD:0008609"}

[Term]
id: MONDO:0800030
name: gastrointestinal defects and immunodeficiency syndrome 1
def: "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood." [Orphanet:436252]
subset: gard_rare {source="GARD:17731", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:436252"}
subset: orphanet_rare {source="Orphanet:436252"}
subset: rare
synonym: "CID-MIA/early-onset IBD" EXACT [Orphanet:436252]
synonym: "combined immunodeficiency-enteropathy spectrum" EXACT [Orphanet:436252]
synonym: "familial intestinal polyatresia syndrome" EXACT [OMIM:243150]
synonym: "FIPA" EXACT ABBREVIATION [OMIM:243150]
synonym: "intestinal atresia, multiple" BROAD [OMIM:243150]
synonym: "MINAT" EXACT ABBREVIATION [OMIM:243150]
synonym: "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" EXACT [OMIM:243150]
xref: GARD:17731 {source="MONDO:GARD"}
xref: MEDGEN:1806192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:243150 {source="MONDO:equivalentTo"}
xref: Orphanet:436252 {source="MONDO:equivalentTo"}
xref: UMLS:C5680044 {source="MONDO:equivalentTo", source="MEDGEN:1806192", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0030831 {source="OMIM:243150"} ! gastrointestinal defect and immunodeficiency syndrome
intersection_of: MONDO:0030831 ! gastrointestinal defect and immunodeficiency syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19750 ! TTC7A
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4167" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0800031
name: central hypoventilation syndrome, congenital
xref: MEDGEN:220902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:209880 {source="MONDO:equivalentTo"}
xref: UMLS:C1275808 {source="MEDGEN:220902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:209880"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:209880"} ! inherited

[Term]
id: MONDO:0800032
name: MELAS syndrome caused by mutation in MTTL1
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTTL1 MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7490 ! MT-TL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800033
name: MELAS syndrome caused by mutation in MTTQ
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTTQ MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7495 ! MT-TQ
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800034
name: MELAS syndrome caused by mutation in MTTH
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTTH MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7487 ! MT-TH
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800035
name: MELAS syndrome caused by mutation in MTTK
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTTK MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7489 ! MT-TK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800036
name: MELAS syndrome caused by mutation in MTTC
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTTC MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7477 ! MT-TC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800037
name: MELAS syndrome caused by mutation in MTTS1
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTTS1 MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7497 ! MT-TS1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800038
name: MELAS syndrome caused by mutation in MTND1
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTND1 MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7455 ! MT-ND1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800039
name: MELAS syndrome caused by mutation in MTND5
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTND5 MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7461 ! MT-ND5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800040
name: MELAS syndrome caused by mutation in MTND6
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTND6 MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7462 ! MT-ND6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800041
name: MELAS syndrome caused by mutation in MTTS2
def: "Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MTTS2 MELAS syndrome" EXACT [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0010789 {source="OMIM:540000"} ! MELAS syndrome
intersection_of: MONDO:0010789 ! MELAS syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7498 ! MT-TS2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4600" xsd:anyURI

[Term]
id: MONDO:0800042
name: restrictive dermopathy 1
def: "A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34." [https://orcid.org/0000-0001-5208-3432] {comment="DOID:0070369"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "fetal hypokinesia sequence due to restrictive dermopathy" EXACT [OMIM:275210]
synonym: "foetal hypokinesia sequence due to restrictive dermopathy" EXACT OMO:0003005 []
synonym: "hyperkeratosis-contracture syndrome" EXACT [OMIM:275210]
synonym: "restrictive dermopathy" BROAD [Orphanet:1662]
synonym: "restrictive dermopathy 1, lethal" EXACT [OMIM:275210]
synonym: "restrictive dermopathy, lethal" RELATED [OMIM:275210]
synonym: "tight skin contracture syndrome, lethal" EXACT [OMIM:275210]
xref: DOID:0070369 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q82.8 {source="Orphanet:1662", source="Orphanet:1662/attributed", source="Orphanet:1662/ntbt", source="DOID:0060762"}
xref: MEDGEN:1812447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536920 {source="MONDO:equivalentTo"}
xref: OMIM:275210 {source="Orphanet:1662", source="DOID:0060762", source="MONDO:equivalentTo", source="Orphanet:1662/e"}
xref: Orphanet:1662 {source="DOID:0060762", source="OMIM:275210"}
xref: SCTID:400128006 {source="MONDO:equivalentTo"}
xref: UMLS:C5676878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812447"}
is_a: MONDO:0015160 {source="Orphanet:1662"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
is_a: MONDO:0031213 {source="OMIM:275210"} ! restrictive dermopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI

[Term]
id: MONDO:0800043
name: Stüve-Wiedemann syndrome 1
def: "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." [Orphanet:3206]
subset: gard_rare {source="GARD:5045", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:3206"}
subset: ordo_malformation_syndrome {source="Orphanet:3206"}
subset: orphanet_rare {source="Orphanet:3206"}
subset: rare
synonym: "neonatal Schwartz-Jampel syndrome" EXACT [Orphanet:3206]
synonym: "neonatal Schwartz-Jampel syndrome type 2" RELATED [GARD:0005045]
synonym: "Schwartz-Jampel syndrome neonatal" EXACT [GARD:0005045]
synonym: "Schwartz-Jampel syndrome type 2" EXACT [Orphanet:3206]
synonym: "Schwartz-Jampel syndrome, neonatal" EXACT [OMIM:601559]
synonym: "Schwartz-Jampel syndrome, type 2" RELATED [OMIM:601559]
synonym: "SJS2" EXACT ABBREVIATION [Orphanet:3206]
synonym: "STUVE-Wiedemann syndrome" BROAD [OMIM:601559]
synonym: "Stuve-Wiedemann syndrome" BROAD []
synonym: "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome" EXACT [OMIM:601559, OMIM:genemap2]
synonym: "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome" RELATED [OMIM:601559]
synonym: "STWS" EXACT ABBREVIATION [OMIM:601559]
synonym: "Stws" BROAD [OMIM:601559]
synonym: "Stüve-Wiedemann dysplasia" EXACT [Orphanet:3206]
synonym: "Stüve-Wiedemann syndrome" BROAD [Orphanet:3206]
synonym: "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome" EXACT [Orphanet:3206]
synonym: "SWS" BROAD ABBREVIATION [OMIM:601559]
xref: GARD:5045 {source="MONDO:GARD"}
xref: ICD10CM:Q78.8 {source="Orphanet:3206", source="Orphanet:3206/attributed", source="Orphanet:3206/ntbt"}
xref: MEDGEN:1803541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537502 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"}
xref: OMIM:601559 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"}
xref: Orphanet:3206 {source="MONDO:equivalentTo", source="OMIM:601559"}
xref: SCTID:254097005 {source="MONDO:equivalentTo"}
xref: UMLS:C5676888 {source="MEDGEN:1803541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009717 {source="OMIM:601559"} ! Schwartz-Jampel syndrome
is_a: MONDO:0019698 {source="Orphanet:3206", source="PMID:31633310"} ! bent bone dysplasia
is_a: MONDO:0031280 {source="OMIM:601559"} ! Stuve-Wiedemann syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6597 {source="MONDO:mim2gene_medgen"} ! LIFR
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0800044
name: congenital disorder of deglycosylation 1
def: "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." [NCIT:C126746]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12315", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1919"}
subset: ordo_disorder {source="Orphanet:404454"}
subset: orphanet_rare {source="Orphanet:404454"}
subset: rare
synonym: "alacrimia - choreoathetosis - liver dysfunction syndrome" RELATED [Orphanet:404454]
synonym: "CDDG" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615273]
synonym: "CDG IV" RELATED [OMIM:615273]
synonym: "CDG IV, formerly" RELATED [OMIM:615273]
synonym: "CDG1V" EXACT ABBREVIATION [GARD:0012315]
synonym: "congenital disorder of deglycosylation" BROAD [DOID:0060728, MONDO:Lexical, OMIM:615273]
synonym: "congenital disorder of deglycosylation 1" EXACT [OMIM:615273, OMIM:genemap2]
synonym: "congenital disorder of deglycosylation;CDDG" BROAD [GARD:0012315]
synonym: "congenital disorder of glycosylation type IV" EXACT [DOID:0060728, GARD:0012315]
synonym: "congenital disorder of glycosylation, type IV" RELATED [OMIM:615273]
synonym: "congenital disorder of glycosylation, type IV, formerly" RELATED [OMIM:615273]
synonym: "deficiency of N-glycanase 1" EXACT [DOID:0060728]
synonym: "NGLY1 Deficiency" EXACT [NORD:1919]
synonym: "NGLY1 deficiency" EXACT [Orphanet:404454]
synonym: "NGLY1-CDDG" EXACT [DOID:0060728, Orphanet:404454]
synonym: "NGLY1-deficiency" EXACT CLINGEN_LABEL []
xref: DOID:0060728 {source="MONDO:equivalentTo"}
xref: GARD:12315 {source="MONDO:GARD"}
xref: ICD10CM:E77.8 {source="Orphanet:404454/attributed", source="Orphanet:404454/ntbt", source="Orphanet:404454", source="DOID:0060728"}
xref: NCIT:C126746 {source="MONDO:equivalentTo"}
xref: NORD:1919 {source="MONDO:NORD"}
xref: OMIM:615273 {source="Orphanet:404454/e", source="MONDO:equivalentTo", source="Orphanet:404454", source="DOID:0060728"}
xref: Orphanet:404454 {source="MONDO:equivalentTo", source="OMIM:615273", source="DOID:0060728"}
xref: SCTID:768846004 {source="MONDO:equivalentTo"}
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism
is_a: MONDO:0019214 {source="DOID:0060728"} ! inborn carbohydrate metabolic disorder
is_a: MONDO:0031376 {source="OMIM:615273"} ! congenital disorder of deglycosylation
relationship: disease_has_basis_in_disruption_of GO:0000224 ! peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
relationship: disease_has_basis_in_disruption_of GO:0006517 ! protein deglycosylation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:404454", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17646 {source="MONDO:mim2gene_medgen"} ! NGLY1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:0800045
name: autoinflammatory syndrome, familial, Behcet-like 1
subset: gard_rare {source="GARD:17848", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AISBL" BROAD ABBREVIATION [OMIM:616744]
synonym: "autoinflammatory syndrome, familial, Behcet-like" BROAD [OMIM:616744]
synonym: "autoinflammatory syndrome, familial, Behcet-like 1" EXACT [OMIM:616744]
synonym: "Behçet-like disease due to HA20" EXACT [Orphanet:476102]
synonym: "Behçet-like disease due to haploinsufficiency of A20" EXACT [Orphanet:476102]
synonym: "hereditary paediatric Behçet-like disease" EXACT OMO:0003005 []
synonym: "hereditary pediatric Behçet-like disease" EXACT [Orphanet:476102]
xref: DOID:0080944 {source="MONDO:equivalentTo"}
xref: GARD:17848 {source="MONDO:GARD"}
xref: MEDGEN:898541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616744 {source="Orphanet:476102", source="MONDO:equivalentTo"}
xref: Orphanet:476102 {source="MONDO:equivalentTo"}
xref: UMLS:C4225218 {source="MEDGEN:898541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease
is_a: MONDO:0019751 {source="OMIM:616744"} ! autoinflammatory syndrome
is_a: MONDO:0031384 {source="OMIM:616744"} ! autoinflammatory syndrome, familial, Behcet-like
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021136 {source="MONDO:0021198"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11896 {source="MONDO:mim2gene_medgen"} ! TNFAIP3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI

[Term]
id: MONDO:0800046
name: thyroid hormone metabolism, abnormal 1
def: "A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported." [https://orcid.org/0000-0001-5208-3432, Orphanet:171706]
subset: gard_rare {source="GARD:17068", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:171706"}
subset: orphanet_rare {source="Orphanet:171706"}
subset: rare
synonym: "short stature-delayed bone age due to thyroid hormone metabolism deficiency" EXACT [Orphanet:171706]
synonym: "THMA1" EXACT ABBREVIATION [OMIM:609698]
synonym: "thyroid hormone metabolism, abnormal" BROAD [OMIM:609698]
xref: GARD:17068 {source="MONDO:GARD"}
xref: ICD10CM:E03.1 {source="Orphanet:171706/attributed", source="Orphanet:171706/ntbt", source="Orphanet:171706"}
xref: MEDGEN:1801974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566454 {source="MONDO:equivalentTo"}
xref: OMIM:609698 {source="Orphanet:171706", source="MONDO:equivalentTo", source="Orphanet:171706/e"}
xref: Orphanet:171706 {source="MONDO:equivalentTo", source="OMIM:609698"}
xref: UMLS:C5676891 {source="MEDGEN:1801974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016412 {source="Orphanet:171706"} ! peripheral hypothyroidism
is_a: MONDO:0031432 {source="https://orcid.org/0000-0001-5493-2602"} ! thyroid hormone metabolism, abnormal
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30972 {source="MONDO:mim2gene_medgen"} ! SECISBP2

[Term]
id: MONDO:0800047
name: macrothrombocytopenia, isolated, 1, autosomal dominant
def: "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene." [MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18271", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1" EXACT [MONDO:design_pattern]
synonym: "autosomal dominant macrothrombocytopenia TUBB1-related" RELATED [OMIM:613112]
synonym: "macrothrombocytopenia, autosomal dominant, TUBB1-related" EXACT [OMIM:613112]
synonym: "MACTHC1" EXACT ABBREVIATION [OMIM:613112]
synonym: "TUBB1 autosomal dominant macrothrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
xref: DOID:0090102 {source="MONDO:equivalentTo"}
xref: GARD:18271 {source="MONDO:GARD"}
xref: ICD10CM:D69.4 {source="DOID:0090102"}
xref: MEDGEN:1811721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567747 {source="MONDO:equivalentTo"}
xref: OMIM:613112 {source="DOID:0090102", source="MONDO:equivalentTo"}
xref: Orphanet:140957 {source="OMIM:613112", source="DOID:0090102"}
xref: UMLS:C5676892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811721"}
is_a: MONDO:0015372 {source="MONDO:Redundant", source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia
is_a: MONDO:0031447 {source="DOID:0090102", source="MESH:C567747", source="MONDO:Redundant", source="MONDO:indirect"} ! macrothrombocytopenia, isolated
intersection_of: MONDO:0015372 ! autosomal dominant macrothrombocytopenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16257 ! TUBB1
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16257 {source="MONDO:mim2gene_medgen"} ! TUBB1

[Term]
id: MONDO:0800063
name: primordial dwarfism and slender bone disorder
def: "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death." [PMID:19006220, PMID:25490023, PMID:31633310]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0800064
name: osteogenesis imperfecta and a reduction of bone mineral density.
def: "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density." [HP:0004349, https://orcid.org/0000-0001-5208-3432, PMID:31633310]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: HP:0004349 {source="MONDO:otherHierarchy"}
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
is_a: MONDO:0019019 {source="PMID:31633310"} ! osteogenesis imperfecta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0800066
name: polydactyly-syndactyly-triphalangism
def: "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two." [https://orcid.org/0000-0001-5208-3432, PMID:19125433, PMID:31633310]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
is_a: MONDO:0021002 {source="PMID:31633310"} ! syndactyly
is_a: MONDO:0021003 {source="PMID:31633310"} ! polydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0800075
name: obsolete dysostosis with predominant vertebral with and without costal involvement
def: "OBSOLETE. Any dysostosis that involves the vertebrae, with or without involvement of the the ribs or the upper sides of the body." [https://orcid.org/0000-0001-5208-3432]
xref: Orphanet:93454 {source="MONDO:relatedTo"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800080
name: severe spondylodysplastic dysplasia
def: "An instance of spondylodysplastic dysplasia that has a high degree of severity." [https://orcid.org/0000-0001-5208-3432, PMID:31633310]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
is_a: MONDO:0019694 {source="PMID:31633310"} ! spondylodysplastic dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0800084
name: obsolete primary bone dysplasia with increased bone density
subset: ordo_group_of_disorders {source="Orphanet:93444"}
subset: otar {source="MONDO:OTAR"}
synonym: "primary osteodysplasia with increased bone density" EXACT [Orphanet:93444]
synonym: "primary skeletal dysplasia with increased bone density" EXACT [Orphanet:93444]
synonym: "sclerosing bone dysplasia" EXACT [Orphanet:93444]
xref: GARD:19200 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93444 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800085
name: obsolete dysostosis with predominant craniofacial involvement
subset: ordo_group_of_disorders {source="Orphanet:93453"}
xref: GARD:19207 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:2114373392 {source="MONDO:obsoleteEquivalent", source="Orphanet:93453", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:93453 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800086
name: obsolete primary bone dysplasia with multiple joint dislocations
subset: ordo_group_of_disorders {source="Orphanet:93441"}
subset: otar {source="MONDO:OTAR"}
synonym: "primary osteodysplasia with multiple joint dislocations" EXACT [Orphanet:93441]
synonym: "primary skeletal dysplasia with multiple joint dislocations" EXACT [Orphanet:93441]
xref: GARD:19198 {source="MONDO:obsoleteEquivalent"}
xref: icd11.foundation:689620137 {source="Orphanet:93441", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"}
xref: Orphanet:93441 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800087
name: obsolete type 11 collagen-related bone disorder
subset: ordo_group_of_disorders {source="Orphanet:93422"}
xref: GARD:19187 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93422 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800088
name: lysosomal storage disease with skeletal involvement
subset: gard_rare {source="GARD:19203", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:93448"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "dysostosis multiplex" EXACT [Orphanet:93448]
xref: GARD:19203 {source="MONDO:GARD"}
xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: Orphanet:93448 {source="MONDO:equivalentTo"}
xref: SCTID:254069004 {source="MONDO:equivalentTo"}
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0800089
name: obsolete primary bone dysplasia with disorganized development of skeletal components
subset: ordo_group_of_disorders {source="Orphanet:93450"}
synonym: "primary osteodysplasia with disorganised development of skeletal components" EXACT OMO:0003005 []
synonym: "primary osteodysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450]
synonym: "primary skeletal dysplasia with disorganised development of skeletal components" EXACT OMO:0003005 []
synonym: "primary skeletal dysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450]
xref: GARD:19205 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93450 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800090
name: obsolete ectrodactyly with and without other manifestations
subset: ordo_group_of_disorders {source="Orphanet:498477"}
xref: GARD:22030 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498477 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800091
name: obsolete overgrowth or tall stature syndrome with skeletal involvement
subset: ordo_group_of_disorders {source="Orphanet:498448"}
xref: GARD:22021 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498448 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800092
name: obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy
subset: ordo_group_of_disorders {source="Orphanet:498445"}
synonym: "genetic inflammatory or rheumatoid-like osteoarthropathy" EXACT [Orphanet:498445]
xref: GARD:22020 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498445 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800093
name: obsolete dysostosis with brachydactyly without extraskeletal manifestations
subset: ordo_group_of_disorders {source="Orphanet:498451"}
xref: GARD:22022 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498451 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800094
name: obsolete dysostosis with brachydactyly with extraskeletal manifestations
subset: ordo_group_of_disorders {source="Orphanet:498454"}
xref: GARD:22023 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:498454 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800095
name: obsolete syndrome with synostosis or other joint formation defect
subset: ordo_group_of_disorders {source="Orphanet:93459"}
xref: GARD:19212 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:93459 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800096
name: abnormal mineralization disorder
def: "A skeletal dysplasia where osteoid becomes calcified." [https://emedicine.medscape.com/article/985766-overview]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "disorder of bone mineralization" EXACT [https://emedicine.medscape.com/article/985766-overview]
synonym: "osteomalacia" RELATED [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI

[Term]
id: MONDO:0800098
name: SNRNP200-related dominant retinopathy
def: "A retinopathy caused by heterozygous variants in the SNRNP200 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "retinitis pigmentosa 33" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinitis pigmentosa caused by mutation in SNRNP200" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinitis pigmentosa type 33" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "RP 33" RELATED [https://clinicalgenome.org/affiliation/40072/]
synonym: "RP33" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "SNRNP200 retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "SNRNP200-related dominant retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30859 {source="https://clinicalgenome.org/affiliation/40072/"} ! SNRNP200
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI

[Term]
id: MONDO:0800099
name: RDH12-related recessive retinopathy
def: "A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LCA13" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "Leber congenital amaurosis 13" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "Leber congenital amaurosis caused by mutation in RDH12" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "Leber congenital amaurosis type 13" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "RDH12 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "RDH12-related recessive retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "retinitis pigmentosa 53" RELATED [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19977 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI

[Term]
id: MONDO:0800100
name: RDH12-related dominant retinopathy
def: "A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision." [https://clinicalgenome.org/affiliation/40072/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "RDH12-related dominant retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19977 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH12
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI

[Term]
id: MONDO:0800101
name: NMNAT1-related retinopathy
def: "A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "amaurosis congenita of Leber, type 9" RELATED [https://clinicalgenome.org/affiliation/40072/]
synonym: "LCA9" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "Leber congenital amaurosis 9" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "Leber congenital amaurosis caused by mutation in NMNAT1" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "Leber congenital amaurosis type 9" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "NMNAT1 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "NMNAT1-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "SHILCA" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "SHILCA Syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17877 {source="https://clinicalgenome.org/affiliation/40072/"} ! NMNAT1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI

[Term]
id: MONDO:0800102
name: CNGA3-related retinopathy
def: "A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene." [https://clinicalgenome.org/affiliation/40072/]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACHM2" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "achromatopsia 2" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "achromatopsia caused by mutation in CNGA3" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "achromatopsia type 2" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "CNGA3 achromatopsia" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "CNGA3-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/]
synonym: "colorblindness, total" RELATED [https://clinicalgenome.org/affiliation/40072/]
synonym: "RMCH2" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "rod monochromacy 2" NARROW [https://clinicalgenome.org/affiliation/40072/]
synonym: "rod monochromatism 2" NARROW [https://clinicalgenome.org/affiliation/40072/]
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2150 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGA3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4937" xsd:anyURI

[Term]
id: MONDO:0800103
name: COACH syndrome 1
def: "Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene." [MONDO:patterns/OMIM_disease_series_by_gene]
subset: gard_rare {source="GARD:15153", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" EXACT [OMIM:216360]
xref: GARD:15153 {source="MONDO:GARD"}
xref: ICD10CM:Q04.3 {source="Orphanet:1454/attributed", source="Orphanet:1454/ntbt", source="Orphanet:1454"}
xref: MEDGEN:1769861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:216360 {source="Orphanet:1454", source="MONDO:equivalentTo", source="Orphanet:1454/e"}
xref: UMLS:C5435651 {source="MEDGEN:1769861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100349 {source="https://orcid.org/0000-0001-5208-3432"} ! COACH syndrome
intersection_of: MONDO:0100349 ! COACH syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28396 ! TMEM67
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114", source="MONDO:0015960"} ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4986" xsd:anyURI

[Term]
id: MONDO:0800104
name: immunodeficiency 105
def: "Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "IMD105" EXACT ABBREVIATION [OMIM:619924]
synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:619924]
synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:619924]
xref: MEDGEN:1809425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619924 {source="MONDO:equivalentTo"}
xref: UMLS:C5677005 {source="MEDGEN:1809425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:619924"} ! immunodeficiency disease
is_a: MONDO:0031520 {source="OMIM:619924"} ! familial severe combined immunodeficiency
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9666 {source="OMIM:619924"} ! PTPRC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5160" xsd:anyURI

[Term]
id: MONDO:0800105
name: catatonia
def: "A psychiatric disorder featuring stupor, posturing, and echophenomena." [PMID:31196793]
xref: MEDGEN:2904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D002389 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: UMLS:C0007398 {source="MEDGEN:2904", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002025 {source="PMID:31196793"} ! psychiatric disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5199" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0800106
name: disruptive behavior disorder
def: "A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan." [PMID:24048954, PMID:28577605]
synonym: "disruptive disorder" EXACT [PMID:24048954, PMID:28577605]
xref: MEDGEN:41619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99753 {source="MONDO:equivalentTo"}
xref: UMLS:C0012734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41619"}
is_a: MONDO:0005084 {source="PMID:24048954", source="PMID:28577605"} ! mental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5199" xsd:anyURI

[Term]
id: MONDO:0800107
name: anterior deviation infundibular septum
xref: MEDGEN:756812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:448619007 {source="MONDO:equivalentTo"}
xref: UMLS:C3164404 {source="MONDO:equivalentTo", source="MEDGEN:756812", source="MONDO:MEDGEN"}
is_a: MONDO:0002070 {source="SCTID:448619007"} ! ventricular septal defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5235" xsd:anyURI

[Term]
id: MONDO:0800108
name: cleft leaflet of tricuspid valve
synonym: "cleft tricuspid valve" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: MEDGEN:576470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: SCTID:60232001 {source="MONDO:equivalentTo"}
xref: UMLS:C0344747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576470"}
is_a: MONDO:0000471 {source="SCTID:60232001"} ! tricuspid valve disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5235" xsd:anyURI

[Term]
id: MONDO:0800109
name: persistent tachypnoe of infancy
def: "A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%." [PMID:16957891, PMID:20623780, PMID:26474448, PMID:32761949]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PTI" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0017019 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! interstitial lung disease specific to infancy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800110
name: persistent tachypnoe of infancy, aberrant
def: "Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%)." [PMID:26474448, PMID:32761949]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PTI, aberrant" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0800109 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! persistent tachypnoe of infancy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800111
name: persistent tachypnoe of infancy, usual
def: "Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%)." [PMID:26474448, PMID:32761949]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PTI, usual" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0800109 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! persistent tachypnoe of infancy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800112
name: non-atopic asthma
def: "A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma." [PMID:23724224]
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0004765 intrinsic asthma
subset: obsoletion_candidate
synonym: "non-allergic asthma" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0004979 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! asthma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7691" xsd:anyURI
property_value: IAO:0006012 "2024-08-01" xsd:string

[Term]
id: MONDO:0800113
name: necrotizing vasculitis
def: "A type of vasculitis that is comprised of vasculitides that present with necrosis." [PMID:637044]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "systemic vasculitis" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:230813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C70635 {source="MONDO:equivalentTo"}
xref: UMLS:C1318520 {source="MEDGEN:230813", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018882 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! vasculitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800114
name: follicular bronchiolits
def: "A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways." [PMID:32040879]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0002429 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! idiopathic interstitial pneumonia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800117
name: cutaneous botryomycosis
def: "A botromycosis that involves the skin and subcutaneous tissue (it is a more common type)." [https://www.uptodate.com/contents/botryomycosis, PMID:9524833]
xref: MEDGEN:640409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0554463 {source="MEDGEN:640409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0400006 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! botryomycosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800118
name: visceral botryomycosis
def: "A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described." [https://www.uptodate.com/contents/botryomycosis, PMID:9524833]
synonym: "pulmonary botromycosis" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0400006 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! botryomycosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800119
name: postinfectious bronchiolitis obliterans
def: "An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood." [PMID:26770220]
synonym: "PIBO" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1840786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5830150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840786"}
is_a: MONDO:0002465 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! bronchiolitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800120
name: Mac-Leod-Swyer-James-Syndrome
def: "A rare lung condition characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality." [PMID:32119329]
synonym: "SJS" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "Swyer-James-(Macleod)-Syndrome" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0002465 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! bronchiolitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800121
name: cellular interstitial pneumonitis
def: "An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring." [PMID:1555422]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0017019 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! interstitial lung disease specific to infancy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800123
name: bronchiolocentric pattern of interstitial pneumonia
def: "An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas." [PMID:26627191]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BPIP" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0005249 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! pneumonia
is_a: MONDO:0015925 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! interstitial lung disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800124
name: Lane Hamilton syndrome
def: "A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15." [PMID:21947219]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0005130 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! celiac disease
is_a: MONDO:0008346 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! pulmonary hemosiderosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800125
name: disseminated visceral giant cell angiitis
def: "A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas." [PMID:637044]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "disseminated visceral giant cell arteristic" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "disseminated visceral giant cell arteritis" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800126
name: dystrophic pulmonary ossification
def: "A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform." [PMID:18664981, PMID:19958677, PMID:31245272]
is_a: MONDO:0005275 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! lung disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800127
name: pulmonary amyloidosis
def: "A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma." [PMID:29038189]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:675153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0700376 {source="MEDGEN:675153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018634 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! hereditary amyloidosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800128
name: combined immunodeficiency due to POLE2 deficiency
def: "Any combined immunodeficiency due to a deficiency in the POLE2 gene." [https://orcid.org/0000-0001-5208-3432, PMID:26365386]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! combined immunodeficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800129
name: autoinflammatory disease, X-linked
def: "An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy." [OMIM:301081]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "autoinflammatory syndrome, X-linked" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
synonym: "NEMO deleted exon 5 syndrome" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: MEDGEN:1811268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301081 {source="MONDO:equivalentTo"}
xref: UMLS:C5676885 {source="MONDO:equivalentTo", source="MEDGEN:1811268", source="MONDO:MEDGEN"}
is_a: MONDO:0019751 {source="OMIM:301081", source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800130
name: autoinflammatory syndrome with immunodeficiency
def: "An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance." [OMIM:619375]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:1784363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619375 {source="MONDO:equivalentTo"}
xref: UMLS:C5543547 {source="MEDGEN:1784363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800131
name: hyper-IgE recurrent infection syndrome 4A, autosomal dominant
def: "An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling." [OMIM:619752]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:1809613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619752 {source="MONDO:equivalentTo"}
xref: UMLS:C5676920 {source="MEDGEN:1809613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018037 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! hyper-IgE syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800132
name: autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
def: "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy." [OMIM:619858]
xref: MEDGEN:1803642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619858 {source="MONDO:equivalentTo"}
xref: UMLS:C5676977 {source="MEDGEN:1803642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800133
name: pulmonary hypoplasia
def: "A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements." [PMID:14610245]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:78574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C99035 {source="MONDO:equivalentTo"}
xref: UMLS:C0265783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78574"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163"} ! respiratory system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI

[Term]
id: MONDO:0800134
name: primary immunodeficiency due to calcium channel deficiency
def: "An immunodeficiency disease caused by a variation in the CRACR2A gene." [PMID:34908525, PMID:35151051]
is_a: MONDO:0021094 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! immunodeficiency disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800135
name: congenital emphysematous lung disease due to Filamin A loss-of-function variant
def: "Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype." [PMID:30922288, PMID:33734874]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0017014 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! interstitial lung disease specific to childhood
relationship: RO:0002573 HP:0000006 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800136
name: non-severe combined immunodeficiency due to COPG1 deficiency
def: "Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene." [PMID:33529166]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800137
name: early-onset pulmonary and cutaneous vasculitis
def: "A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis." [PMID:34536415]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome
relationship: RO:0002573 HP:0000006 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800138
name: multisystem autoimmune disease due to IKAROS gain of function
def: "An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation." [PMID:35333544]
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoimmune disease
relationship: RO:0002573 HP:0000006 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800139
name: HELIOS deficiency
def: "A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy." [PMID:3482625, PMID:34826260, PMID:34920454]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: RO:0002573 HP:0000006 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal dominant inheritance
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800140
name: ITPKB deficiency
def: "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene." [PMID:31987846]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800141
name: MAN2B2 deficiency
def: "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800142
name: chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency
def: "An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS)." [PMID:31784499]
synonym: "JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0021094 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! immunodeficiency disease
relationship: RO:0002573 HP:0000006 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal dominant inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800143
name: cytomegalovirus pneumonia due to NOS2 deficiency
def: "Cytomegalovirus pneumonia due to variant in the NOS2 gene." [PMID:31995689]
is_a: MONDO:0024354 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! cytomegalovirus pneumonia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800144
name: autoimmune pulmonary disease due to PD-1 deficiency
def: "An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli." [PMID:34183838]
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoimmune disease
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800145
name: non-severe combined immunodeficiency due to polymerase delta deficiency
def: "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene." [PMID:31449058]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800146
name: agammaglobulinemia, autosomal recessive, due to BOB1 deficiency
def: "Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene." [PMID:33571536]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0015977 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! agammaglobulinemia
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800147
name: hemophagocytic lymphohistiocytosis due to RhoG deficiency
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene." [PMID:33513601]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0015541 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! hereditary hemophagocytic lymphohistiocytosis
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800148
name: autoinflammatory syndrome due to TBK1 deficiency
def: "Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene." [PMID:34363755]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800149
name: immunodeficiency, common variable, due to APRIL deficiency
def: "Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene." [PMID:32298700]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0015517 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! common variable immunodeficiency
relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritance
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI

[Term]
id: MONDO:0800152
name: disorder of galactose and fructose metabolism
def: "An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019214 {source="PMID:33340416"} ! inborn carbohydrate metabolic disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0800153
name: urea cycle disorder or inherited hyperammonemia
def: "A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood)." [https://orcid.org/0000-0001-6330-7526]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
relationship: disease_has_basis_in_disruption_of GO:0000050 {source="PMID:33340416"} ! urea cycle
relationship: disease_has_major_feature HP:0001987 {source="PMID:33340416"} ! Hyperammonemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5378" xsd:anyURI

[Term]
id: MONDO:0800154
name: inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide
def: "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0800155
name: inborn disorder of glycine and serine metabolism
def: "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0019239 {source="PMID:33340416"} ! inborn disorder of serine family metabolism
is_a: MONDO:0045020 {source="PMID:33340416"} ! glycine metabolism disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0800156
name: inborn disorder of ornithine, proline and hydroxyproline metabolism
def: "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0800157
name: inborn disorder of lysine, hydroxylysine, and tryptophan metabolism
def: "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
is_a: MONDO:0017350 {source="PMID:33340416"} ! inborn disorder of tryptophan metabolism
is_a: MONDO:0017351 {source="PMID:33340416"} ! inborn disorder of lysine and hydroxylysine metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0800158
name: inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism
def: "A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0800159
name: disorder of polyamine metabolism
def: "An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process." [MONDO:patterns/inborn_metabolic]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0100473 {source="PMID:33340416"} ! disorder of peptide and amine metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI

[Term]
id: MONDO:0800166
name: Knobloch syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:336594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:267750 {source="MONDO:equivalentTo"}
xref: UMLS:C1849409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336594"}
is_a: MONDO:0020248 {source="OMIMPS:267750"} ! vitreoretinal degeneration
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:267750"} ! inherited
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:0800167
name: Knobloch syndrome 1
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:380", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1571"}
subset: ordo_malformation_syndrome {source="Orphanet:1571"}
subset: orphanet_rare {source="Orphanet:1571"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "KNO" RELATED [OMIM:267750]
synonym: "KNO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:267750]
synonym: "KNOBLOCH syndrome 1" EXACT [MONDO:Lexical, OMIM:267750]
synonym: "Knobloch syndrome type 1" EXACT [MONDORULE:1, OMIM:267750]
synonym: "Knobloch syndrome, type 1" EXACT [OMIM:267750, OMIM:genemap2]
synonym: "Knobloch-Layer syndrome" EXACT [Orphanet:1571]
synonym: "myopia retinal detachment encephalocele" RELATED [GARD:0000380]
synonym: "retinal detachment and occipital encephalocele" RELATED [OMIM:267750]
synonym: "retinal detachment-occipital encephalocele syndrome" EXACT [Orphanet:1571]
xref: GARD:380 {source="MONDO:GARD"}
xref: ICD10CM:Q15.8 {source="Orphanet:1571", source="Orphanet:1571/attributed", source="Orphanet:1571/ntbt"}
xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1642123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537209 {source="Orphanet:1571", source="MONDO:equivalentTo", source="Orphanet:1571/e"}
xref: OMIM:267750 {source="Orphanet:1571", source="MONDO:equivalentTo", source="Orphanet:1571/e"}
xref: Orphanet:1571 {source="MONDO:equivalentTo", source="OMIM:267750"}
xref: SCTID:703542000 {source="MONDO:equivalentTo"}
xref: UMLS:C4551775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642123"}
is_a: MONDO:0800166 {source="OMIM:267750"} ! Knobloch syndrome
intersection_of: MONDO:0800166 ! Knobloch syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2195 ! COL18A1
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5404
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome" xsd:anyURI {source="GARD:0000380"}

[Term]
id: MONDO:0800174
name: encephalitis, acute, infection-induced, susceptibility to
def: "An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced." [MONDO:patterns/inherited_susceptibility]
xref: OMIMPS:610551 {source="MONDO:relatedTo"}
is_a: MONDO:0020573 {source="OMIMPS:610551"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0000166 ! encephalopathy, acute, infection-induced
relationship: predisposes_towards MONDO:0000166 {source="OMIMPS:610551"} ! encephalopathy, acute, infection-induced
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0800175
name: cardiogenic shock
def: "A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels." [Orphanet:97292]
subset: gard_rare {source="GARD:19362", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:97292"}
subset: orphanet_rare {source="Orphanet:97292"}
subset: rare
xref: GARD:19362 {source="MONDO:GARD"}
xref: ICD10CM:R57.0 {source="MONDO:equivalentTo"}
xref: icd11.foundation:1974956233 {source="MONDO:equivalentTo", source="Orphanet:97292"}
xref: MedDRA:10007625 {source="Orphanet:97292"}
xref: MEDGEN:48650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:97292 {source="MONDO:equivalentTo"}
xref: UMLS:C0036980 {source="MONDO:equivalentTo", source="MEDGEN:48650", source="MONDO:MEDGEN"}
is_a: MONDO:0005267 {source="Orphanet:97292"} ! heart disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5462" xsd:anyURI

[Term]
id: MONDO:0800176
name: black widow spider envenomation
def: "Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species)." [https://orcid.org/0000-0001-7151-1615]
synonym: "black widow envenomation" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "latrodectism" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "poisoning caused by black widow venom" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "poisoning due to black widow spider" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "toxic effect of venom of black widow" EXACT [https://orcid.org/0000-0001-7151-1615]
xref: SCTID:217666004 {source="MONDO:equivalentTo"}
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5463" xsd:anyURI

[Term]
id: MONDO:0800177
name: frostbite
def: "An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold." [NCIT:C34627]
xref: NCIT:C34627 {source="MONDO:equivalentTo"}
xref: SCTID:370977006 {source="MONDO:equivalentTo"}
is_a: MONDO:0021178 {source="NCIT:C34627"} ! injury
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5469" xsd:anyURI

[Term]
id: MONDO:0800178
name: platinum-induced ototoxicity
def: "Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin." [PMID:32429551]
synonym: "deafness, platinum-induced" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "platinum-related ototoxicity" EXACT [https://orcid.org/0000-0001-7151-1615]
is_a: MONDO:0020678 {source="PMID:32429551"} ! sensorineural hearing loss disorder
is_a: MONDO:0029000 {source="PMID:32429551"} ! poisoning
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5470" xsd:anyURI

[Term]
id: MONDO:0800179
name: periprosthetic joint infection
def: "A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties." [https://orcid.org/0000-0001-7151-1615, PMID:33380199]
is_a: MONDO:0004471 {source="PMID:33380199"} ! bacterial arthritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5471" xsd:anyURI

[Term]
id: MONDO:0800180
name: CPOX-related hereditary coproporphyria
def: "Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene." [https://clinicalgenome.org/affiliation/40097/, https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/]
comment: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, the molecular mechanism (CPOX loss-of-function) was found to be consistent between the harderoporphyria cases and hereditary coproporphyria cases. In addition, the phenotypic differences between the biallelic and monoallelic cases appeared to represent a single spectrum of disease. Therefore, cases caused by inherited CPOX variants have been lumped into a single disease entity referred to as CPOX-related hereditary coproporphyria, with a semidominant mode of inheritance.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0019142 {source="https://clinicalgenome.org/affiliation/40097/", source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"} ! inherited porphyria
relationship: RO:0004001 http://identifiers.org/hgnc/2321 {source="https://clinicalgenome.org/affiliation/40097/", source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/"} ! has material basis in gain of function germline mutation in CPOX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5474" xsd:anyURI

[Term]
id: MONDO:0800181
name: OPA1-related optic atrophy with or without extraocular features
def: "Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities." [https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/, https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found the molecular mechanism (loss of function variants in OPA1) to be consistent among apparently unrelated patients, while related patients harboring either biallelic or monoallelic OPA1 variants were affected with optic atrophy. The phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities. Therefore, affected cases harboring monoallelic or biallelic OPA1 variants have been lumped into a single disease entity, referred to as OPA1-related optic atrophy with or without extraocular features.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0004069 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inborn mitochondrial metabolism disorder
is_a: MONDO:0020249 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! hereditary optic neuropathy
relationship: RO:0004001 http://identifiers.org/hgnc/8140 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! has material basis in gain of function germline mutation in OPA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5475" xsd:anyURI

[Term]
id: MONDO:0800182
name: TEK-related primary glaucoma
def: "Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene." [https://clinicalgenome.org/affiliation/40077/, https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/]
comment: Per criteria outlined by the ClinGen Lumping & Splitting Working Group, the molecular mechanism (loss-of-function) was found to be consistent among patients diagnosed with primary congenital glaucoma-3E (MONDO:0014998, MIM #617272), while their shared phenotypes indicated a spectrum of disease. However, in order to acknowledge the broader spectrum of onset and variable expressivity of the disease entity, this group proposes to remove the term "congenital" and recommend the name TEK-related primary glaucoma.
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018174 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary glaucoma
relationship: RO:0004001 http://identifiers.org/hgnc/11724 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! has material basis in gain of function germline mutation in TEK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5476" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0800183
name: PAX6-related ocular dysgenesis
def: "Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene." []
comment: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found that the diverse phenotypes associated with variants in PAX6 have all been associated with an autosomal dominant mode of inheritance. The high proportion of null and apparent loss-of-function PAX6 variants across all of these phenotypes indicates a common haploinsufficiency mechanism. The phenotypic variability among them is consistent with a single spectrum of disease. The term, ocular dysgenesis caused by defects in PAX6 regulation, was proposed by the ClinGen Glaucoma / Neuro-Ophthalmology GCEP as a parent term for cases of ocular disease caused by variants in the PAX6 gene itself, including this class, (MONDO:0800183 PAX6-related ocular dysgenesis) or by disruption of PAX6 expression by variants in the ELP4 locus (MONDO:0014937 aniridia 2) or TRIM44 locus (MONDO:0014938 aniridia 3).
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0005328 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! eye disorder
is_a: MONDO:0100534 {source="https://clinicalgenome.org/affiliation/40077/", source="https://orcid.org/0000-0001-5935-2391"} ! SMARCB1-deficient kidney medullary carcinoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="https://clinicalgenome.org/affiliation/40077/", source="https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PAX6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5477" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7066" xsd:anyURI

[Term]
id: MONDO:0800187
name: immunodeficiency 83, susceptibility to viral infections
def: "An inherited susceptibility or predisposition to developing viral infections." [MONDO:patterns/inherited_susceptibility]
synonym: "IMD83" EXACT ABBREVIATION [OMIM:613002]
xref: MEDGEN:416638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613002 {source="MONDO:equivalentTo"}
xref: UMLS:C2751803 {source="MEDGEN:416638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800174 {source="OMIMPS:610551"} ! encephalitis, acute, infection-induced, susceptibility to
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0800188
name: malignant hyperthermia, susceptibility to
def: "An inherited susceptibility or predisposition to developing malignant hyperthermia." [MONDO:patterns/inherited_susceptibility]
xref: MEDGEN:1728755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:145600 {source="MONDO:equivalentTo"}
xref: UMLS:C5437603 {source="MEDGEN:1728755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIMPS:145600"} ! inherited disease susceptibility
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145600"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI

[Term]
id: MONDO:0800195
name: achalasia-alacrima syndrome
synonym: "AAAS" EXACT ABBREVIATION [OMIM:231550]
xref: OMIM:231550 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800196
name: achromatopsia 5
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "ACHM5" EXACT ABBREVIATION [OMIM:613093]
xref: MEDGEN:416519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613093 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2751309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416519"}
is_a: MONDO:0000455 {source="https://orcid.org/0000-0001-5208-3432"} ! cone dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800197
name: achromatopsia 6
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACHM6" EXACT ABBREVIATION [OMIM:610024]
xref: MEDGEN:765141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610024 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3552227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:765141"}
is_a: MONDO:0001703 {source="https://orcid.org/0000-0001-5208-3432"} ! color vision disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800198
name: alopecia universalis
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "AU" EXACT ABBREVIATION [OMIM:104000]
xref: MEDGEN:120481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:104000 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C0263505 {source="MEDGEN:120481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0004907 {source="https://orcid.org/0000-0001-5208-3432"} ! alopecia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0800199
name: obsolete Angelman syndrome chromosome region
xref: OMIM:105830 {source="MONDO:includedEntryInOMIM"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7067" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0800200
name: arthrogryposis, distal, type 2B4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DA2B4" EXACT ABBREVIATION [OMIM:108120]
xref: MEDGEN:1682592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:108120 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C5193002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682592"}
is_a: MONDO:0019942 {source="https://orcid.org/0000-0001-5208-3432"} ! distal arthrogryposis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800201
name: baldness, male pattern
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "MPB" EXACT ABBREVIATION [OMIM:109200]
xref: MEDGEN:904995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:109200 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4083212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904995"}
is_a: MONDO:0005339 {source="https://orcid.org/0000-0001-5208-3432"} ! androgenetic alopecia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800204
name: calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CDLSMD" EXACT ABBREVIATION [OMIM:126550]
xref: MEDGEN:1674505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:126550 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C5193004 {source="MEDGEN:1674505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="https://orcid.org/0000-0001-5208-3432"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800206
name: epidermolysis bullosa dystrophica with subcorneal cleavage
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EBDSC" EXACT ABBREVIATION [OMIM:131750]
xref: MEDGEN:436495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:131750 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2675683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436495"}
is_a: MONDO:0006543 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa dystrophica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800207
name: neuropathy, small fiber
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "SFNP" EXACT ABBREVIATION [OMIM:133020]
xref: MEDGEN:478336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:133020 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3276706 {source="MONDO:equivalentTo", source="MEDGEN:478336", source="MONDO:MEDGEN"}
is_a: MONDO:0005244 {source="https://orcid.org/0000-0001-5208-3432"} ! peripheral neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800209
name: fibrosis of extraocular muscles, congenital, 3b
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CFEOM3B" EXACT ABBREVIATION [OMIM:135700]
xref: MEDGEN:416468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:135700 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2751105 {source="MEDGEN:416468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007614 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital fibrosis of extraocular muscles
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800210
name: glaucoma 1, open angle, l
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "GLC1L" EXACT ABBREVIATION [OMIM:137750]
xref: OMIM:137750 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0020367 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile open angle glaucoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800215
name: multicentric Castleman disease, susceptibility to
synonym: "MCD" EXACT ABBREVIATION [OMIM:148000]
xref: MEDGEN:762089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:148000 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3541461 {source="MEDGEN:762089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800222
name: pelvic organ prolapse, susceptibility to, 1
synonym: "PVOP1" EXACT ABBREVIATION [OMIM:176780]
xref: OMIM:176780 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800224
name: amyotrophic lateral sclerosis, susceptibility to, 13
synonym: "ALS13" EXACT ABBREVIATION [OMIM:183090]
xref: MEDGEN:461257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:183090 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3149907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461257"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800226
name: strabismus, susceptibility to, 1
synonym: "STBMS1" EXACT ABBREVIATION [OMIM:185100]
xref: MEDGEN:350027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:185100 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1861450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350027"}
is_a: MONDO:0008498 {source="OMIM:185100"} ! strabismus, susceptibility to
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5756" xsd:anyURI

[Term]
id: MONDO:0800250
name: Graves disease, susceptibility to, X-linked 2
synonym: "GRDX2" EXACT ABBREVIATION [OMIM:300351]
xref: MEDGEN:394751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300351 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2678152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394751"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800261
name: autoimmune thyroid disease, susceptibility to, 5
synonym: "AITD5" EXACT ABBREVIATION [OMIM:601941]
xref: MEDGEN:411625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601941 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2748621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411625"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800268
name: atrioventricular septal defect, susceptibility to, 1
subset: predisposition
synonym: "atrioventricular canal defect" RELATED [OMIM:606215]
synonym: "atrioventricular septal defect" RELATED [MONDO:Lexical, OMIM:606215]
synonym: "AVC defect" RELATED [OMIM:606215]
synonym: "AVSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606215]
synonym: "AVSD1" EXACT ABBREVIATION [MONDO:0011649, OMIM:606215]
synonym: "endocardial cushion defect" RELATED [OMIM:606215]
xref: MEDGEN:342900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606215 {source="MONDO:includedEntryInOMIM"}
xref: Orphanet:98722 {source="OMIM:606215"}
xref: UMLS:C1853513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342900"}
is_a: MONDO:0020573 {source="OMIM:606215", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0020290 {source="DC-OMIM:606215", source="OMIM:606215", source="https://orcid.org/0000-0001-5208-3432"} ! familial atrioventricular septal defect
relationship: predisposes_towards MONDO:0020290 {source="OMIM:606215"} ! familial atrioventricular septal defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5758" xsd:anyURI

[Term]
id: MONDO:0800271
name: epilepsy, juvenile myoclonic, susceptibility to, 6
synonym: "EJM6" EXACT ABBREVIATION [OMIM:607682]
xref: MEDGEN:442587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607682 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2750888 {source="MEDGEN:442587", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800274
name: autoimmune disease, susceptibility to, 5
synonym: "AIS5" EXACT ABBREVIATION [OMIM:611598]
xref: MEDGEN:369911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611598 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1969031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369911"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800275
name: autism, susceptibility to, 14a
synonym: "AUTS14A" EXACT ABBREVIATION [OMIM:611913]
xref: MEDGEN:765405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611913 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3552491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:765405"}
is_a: MONDO:0020836 {source="https://orcid.org/0000-0001-5208-3432"} ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 {source="https://orcid.org/0000-0001-5208-3432"} ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800279
name: epilepsy, idiopathic generalized, susceptibility to, 6
synonym: "EIG6" EXACT ABBREVIATION [OMIM:611942]
xref: MEDGEN:394369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611942 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2677793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394369"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800287
name: autism, susceptibility to, 14b
synonym: "AUTS14B" EXACT ABBREVIATION [OMIM:614671]
xref: MEDGEN:766322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614671 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3553408 {source="MEDGEN:766322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 {source="https://orcid.org/0000-0001-5208-3432"} ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 {source="https://orcid.org/0000-0001-5208-3432"} ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800290
name: Li-fraumeni-like syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LFL" EXACT ABBREVIATION [OMIM:151623]
xref: MEDGEN:382523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:151623 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2675080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382523"}
is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800291
name: crossed polydactyly, type I
subset: gard_rare {source="GARD:1616", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CP1" EXACT ABBREVIATION [OMIM:174700]
xref: GARD:1616 {source="MONDO:GARD"}
xref: MEDGEN:357421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:174700 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1868112 {source="MEDGEN:357421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0800066 {source="https://orcid.org/0000-0001-5208-3432"} ! polydactyly-syndactyly-triphalangism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800294
name: obsolete progressive encephalomyelitis with rigidity
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7201" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018581

[Term]
id: MONDO:0800296
name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
synonym: "MRCS2" EXACT [OMIM:193220]
xref: MEDGEN:1763512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:193220 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C5435648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1763512"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800297
name: obsolete neuronal ceroid lipofuscinosis, late infantile
comment: This term was originally an "included" entry of OMIM:204500, which OMIM removed from the record.
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5922" xsd:anyURI
is_obsolete: true
consider: MONDO:0015674

[Term]
id: MONDO:0800298
name: peroxisome biogenesis disorder, complementation group 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CG2" EXACT [OMIM:214110]
xref: MEDGEN:763188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:214110 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3550274 {source="MEDGEN:763188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019609 {source="https://orcid.org/0000-0001-5208-3432"} ! Zellweger spectrum disorders
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800299
name: myopathy, congenital, with excess of muscle spindles
synonym: "CMEMS" EXACT [OMIM:218040]
xref: MEDGEN:369344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:218040 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1968782 {source="MEDGEN:369344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800300
name: black locks with albinism and deafness syndrome
synonym: "BADS" EXACT ABBREVIATION [OMIM:227010]
xref: MEDGEN:82812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:227010 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C0268501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82812"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800301
name: Friedreich ataxia with retained reflexes
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "FARR" EXACT ABBREVIATION [OMIM:229300]
xref: MEDGEN:376121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:229300 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1847416 {source="MEDGEN:376121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100339 {source="https://orcid.org/0000-0001-5208-3432"} ! Friedreich ataxia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800302
name: glycogen storage disease Id
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "GSD1D" EXACT ABBREVIATION [OMIM:232240]
xref: MEDGEN:87456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:232240 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C0342750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87456"}
is_a: MONDO:0002413 {source="https://orcid.org/0000-0001-5208-3432"} ! glycogen storage disease I
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800303
name: obsolete hypophosphatasia, perinatal lethal
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5811" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016605

[Term]
id: MONDO:0800304
name: neuropathy, hereditary sensory and autonomic, type IId
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "HSAN2D" EXACT [OMIM:243000]
xref: MEDGEN:860491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:243000 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4012054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860491"}
is_a: MONDO:0003847 {source="OMIM:243000"} ! hereditary disease
is_a: MONDO:0005244 {source="https://orcid.org/0000-0001-5208-3432"} ! peripheral neuropathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800305
name: myelofibrosis with myeloid metaplasia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MMM" EXACT [OMIM:254450]
xref: OMIM:254450 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0009692 {source="https://orcid.org/0000-0001-5208-3432"} ! primary myelofibrosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800306
name: myoclonic epilepsy of Lafora 2
def: "Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "epilepsy, progressive myoclonic, 2B" EXACT [OMIM:620681]
synonym: "EPM2B" EXACT ABBREVIATION [OMIM:254780]
synonym: "Lafora disease 2" EXACT [OMIM:620681]
synonym: "MELF2" EXACT [OMIM:620681]
synonym: "myoclonic epilepsy of Lafora 2" EXACT [MONDO:0958201]
xref: MEDGEN:340621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620681 {source="MONDO:equivalentTo"}
xref: UMLS:C1850764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340621"}
is_a: MONDO:0009697 {source="OMIM:620681"} ! Lafora disease
is_a: MONDO:0020074 {source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21576 {source="OMIM:620681"} ! NHLRC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7393" xsd:anyURI

[Term]
id: MONDO:0800307
name: de la Chapelle dysplasia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DLCD" EXACT ABBREVIATION [OMIM:256050]
xref: MEDGEN:342529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:256050 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1850555 {source="MEDGEN:342529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="https://orcid.org/0000-0001-5208-3432"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800308
name: orotic aciduria without megaloblastic anemia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "OAWA" EXACT [OMIM:258900]
xref: MEDGEN:480252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:258900 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3278622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:480252"}
is_a: MONDO:0009797 {source="https://orcid.org/0000-0001-5208-3432"} ! orotic aciduria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800310
name: pregnancy loss, recurrent, 4
synonym: "RPRGL4" EXACT [OMIM:270960]
xref: MEDGEN:481067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:270960 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3279437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481067"}
is_a: MONDO:0000144 {source="OMIM:270960"} ! pregnancy loss, recurrent, susceptibility
is_a: MONDO:0005047 {source="https://orcid.org/0000-0001-5208-3432"} ! infertility disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6867" xsd:anyURI

[Term]
id: MONDO:0800311
name: vas deferens, congenital unilateral aplasia of
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CUAVD" EXACT [OMIM:277180]
xref: MEDGEN:1712847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:277180 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C5393224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712847"}
is_a: MONDO:0018801 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital bilateral absence of vas deferens
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800312
name: wooly hair, autosomal recessive 1, with or without hypotrichosis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ARWH1" EXACT [OMIM:278150]
xref: MEDGEN:341227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:278150 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1848435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341227"}
is_a: MONDO:0008686 {source="https://orcid.org/0000-0001-5208-3432"} ! isolated familial wooly hair disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800313
name: xeroderma pigmentosum, type F/Cockayne syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "XPF/CS" EXACT ABBREVIATION [OMIM:278760]
xref: MEDGEN:812895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:278760 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3806565 {source="MEDGEN:812895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016354 {source="https://orcid.org/0000-0001-5208-3432"} ! xeroderma pigmentosum-Cockayne syndrome complex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800314
name: xeroderma pigmentosum, type G/Cockayne syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "XPG/CS" EXACT ABBREVIATION [OMIM:278780]
xref: MEDGEN:409618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:278780 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1968561 {source="MEDGEN:409618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016354 {source="https://orcid.org/0000-0001-5208-3432"} ! xeroderma pigmentosum-Cockayne syndrome complex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800316
name: obsolete contiguous ABCD1/DXS1375E deletion syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5809" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0018247

[Term]
id: MONDO:0800317
name: premature ovarian failure 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "POF4" EXACT [OMIM:300510]
xref: MEDGEN:336904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300510 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1845295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336904"}
is_a: MONDO:0019852 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited primary ovarian failure
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800318
name: Emery-Dreifuss muscular dystrophy 6, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EDMD6" EXACT ABBREVIATION [OMIM:300696]
xref: MEDGEN:440709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300696 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2749106 {source="MEDGEN:440709", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010680 {source="https://orcid.org/0000-0001-5493-2602"} ! X-linked Emery-Dreifuss muscular dystrophy
is_a: MONDO:0016830 {source="https://orcid.org/0000-0001-5208-3432"} ! Emery-Dreifuss muscular dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6738" xsd:anyURI

[Term]
id: MONDO:0800319
name: cone dystrophy 5, X-linked
synonym: "COD5" EXACT ABBREVIATION [OMIM:303700]
xref: MEDGEN:854645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:303700 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3887937 {source="MEDGEN:854645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal degeneration
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800320
name: cone dystrophy 1, X-linked
synonym: "COD1" EXACT ABBREVIATION [OMIM:304020]
xref: MEDGEN:336778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:304020 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1844777 {source="MEDGEN:336778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004580 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal degeneration
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800321
name: congenital heart defects, multiple types, 1, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CHTD1" EXACT ABBREVIATION [OMIM:306955]
xref: MEDGEN:463217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:306955 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3151867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463217"}
is_a: MONDO:0019512 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital heart malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800322
name: membranous obstruction of inferior vena cava
synonym: "MOVC" EXACT [OMIM:600880]
xref: MEDGEN:107472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600880 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C0546323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107472"}
is_a: MONDO:0005154 {source="https://orcid.org/0000-0001-5208-3432"} ! liver disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800323
name: long QT syndrome 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LQT4" EXACT [OMIM:600919]
xref: MEDGEN:331449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:600919 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1833154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331449"}
is_a: MONDO:0019171 {source="https://orcid.org/0000-0001-5208-3432"} ! familial long QT syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800324
name: microphthalmia, isolated, with coloboma 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "MCOPCB8" EXACT [OMIM:601186]
xref: MEDGEN:761921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601186 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3540845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761921"}
is_a: MONDO:0000170 {source="https://orcid.org/0000-0001-5208-3432"} ! microphthalmia, isolated, with coloboma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800326
name: cone-rod dystrophy 14
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CORD14" EXACT ABBREVIATION [OMIM:602093]
xref: OMIM:602093 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0015993 {source="https://orcid.org/0000-0001-5208-3432"} ! cone-rod dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800328
name: retinitis pigmentosa 94, variable age at onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "RP94" EXACT ABBREVIATION [OMIM:604232]
xref: MEDGEN:1805655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604232 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C5676889 {source="MEDGEN:1805655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="https://orcid.org/0000-0001-5208-3432"} ! retinitis pigmentosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800329
name: febrile seizures, familial, 3a
synonym: "FEB3A" EXACT ABBREVIATION [OMIM:604403]
xref: MEDGEN:442807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604403 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2751756 {source="MEDGEN:442807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000032 {source="https://orcid.org/0000-0001-5208-3432"} ! febrile seizures, familial
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800330
name: myoclonic epilepsy, juvenile, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "EJM2" EXACT [OMIM:604827]
xref: MEDGEN:854640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604827 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3887932 {source="MEDGEN:854640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009696 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile myoclonic epilepsy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800331
name: hyperglycinemia, transient neonatal
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "TNH" EXACT ABBREVIATION [OMIM:605899]
xref: MEDGEN:82818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:605899 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C0268560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82818"}
is_a: MONDO:0004736 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800335
name: migraine, familial hemiplegic, 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "FHM4" EXACT [OMIM:607516]
xref: MEDGEN:334830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607516 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1843766 {source="MONDO:equivalentTo", source="MEDGEN:334830", source="MONDO:MEDGEN"}
is_a: MONDO:0000700 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hemiplegic migraine
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800337
name: acute tubulointerstitial nephritis
synonym: "ATIN" EXACT ABBREVIATION [OMIM:607665]
xref: MEDGEN:334716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:607665 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1843274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334716"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800339
name: laryngospasm, severe neonatal episodic
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SNEL" EXACT [OMIM:608390]
xref: MEDGEN:460867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608390 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3149517 {source="MEDGEN:460867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016120 {source="https://orcid.org/0000-0001-5208-3432"} ! myotonic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800340
name: seasonal affective disorder, susceptibility to
synonym: "SAD, susceptibility to" EXACT [OMIM:608516]
xref: OMIM:608516 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0000694 {source="https://orcid.org/0000-0001-5208-3432"} ! seasonal affective disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800341
name: congenital myopathy 4A, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cap myopathy 1" EXACT []
synonym: "CAPM1" EXACT ABBREVIATION [OMIM:255310]
synonym: "CFTD" EXACT ABBREVIATION [OMIM:255310]
synonym: "CFTDM" EXACT ABBREVIATION [OMIM:255310]
synonym: "fiber-type disproportion myopathy, congenital" EXACT [OMIM:255310]
synonym: "myopathy, congenital, with fiber-type disproportion" EXACT [OMIM:255310]
synonym: "NEM1" EXACT ABBREVIATION [OMIM:255310]
synonym: "nemaline myopathy 1" EXACT [OMIM:255310]
xref: OMIM:255310 {source="MONDO:equivalentTo"}
is_a: MONDO:0019952 {source="OMIM:255310"} ! congenital myopathy
relationship: excluded_subClassOf MONDO:0015753 {source="https://orcid.org/0000-0001-5208-3432"} ! cap myopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6035" xsd:anyURI

[Term]
id: MONDO:0800342
name: obsolete cap myopathy 2
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6327" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0012240

[Term]
id: MONDO:0800343
name: obsolete rhegmatogenous retinal detachment, autosomal dominant
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5810" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0016202

[Term]
id: MONDO:0800344
name: brachydactyly-syndactyly-oligodactyly syndrome
synonym: "BDSDO" EXACT ABBREVIATION [OMIM:610713]
xref: MEDGEN:934774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:610713 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4310807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934774"}
is_a: MONDO:0005172 {source="https://orcid.org/0000-0001-5208-3432"} ! skeletal system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800345
name: atrial fibrillation, familial, 17
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ATFB17" EXACT ABBREVIATION [OMIM:611819]
xref: MEDGEN:861997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611819 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4013560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:861997"}
is_a: MONDO:0018054 {source="https://orcid.org/0000-0001-5208-3432"} ! familial atrial fibrillation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800346
name: left ventricular noncompaction 9
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LVNC9" EXACT [OMIM:611878]
xref: MEDGEN:814475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:611878 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3808145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814475"}
is_a: MONDO:0018901 {source="https://orcid.org/0000-0001-5208-3432"} ! left ventricular noncompaction
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800347
name: cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CMH23" EXACT ABBREVIATION [OMIM:612158]
xref: OMIM:612158 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0024573 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypertrophic cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800348
name: retinitis pigmentosa 53
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "RP53" EXACT ABBREVIATION [OMIM:612712]
xref: MEDGEN:461558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612712 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3150208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461558"}
is_a: MONDO:0019200 {source="https://orcid.org/0000-0001-5208-3432"} ! retinitis pigmentosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800349
name: atrial fibrillation, familial, 16
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ATFB16" EXACT ABBREVIATION [OMIM:613120]
xref: MEDGEN:862136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613120 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4013699 {source="MEDGEN:862136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018054 {source="https://orcid.org/0000-0001-5208-3432"} ! familial atrial fibrillation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800350
name: left ventricular noncompaction 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LVNC4" EXACT [OMIM:613424]
xref: MEDGEN:462032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613424 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3150682 {source="MEDGEN:462032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018901 {source="https://orcid.org/0000-0001-5208-3432"} ! left ventricular noncompaction
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800351
name: left ventricular noncompaction 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "LVNC5" EXACT ABBREVIATION [OMIM:613426]
xref: MEDGEN:462040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613426 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3150690 {source="MEDGEN:462040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018901 {source="https://orcid.org/0000-0001-5208-3432"} ! left ventricular noncompaction
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800352
name: retinitis pigmentosa 65
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RP65" EXACT ABBREVIATION [OMIM:613660]
xref: MEDGEN:765766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613660 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3552852 {source="MONDO:equivalentTo", source="MEDGEN:765766", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="https://orcid.org/0000-0001-5208-3432"} ! retinitis pigmentosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800353
name: congenital disorder of glycosylation, type Ibb
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CDG1BB" EXACT ABBREVIATION [OMIM:613861]
xref: MEDGEN:1637983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613861 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4693133 {source="MEDGEN:1637983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800354
name: febrile seizures, familial, 3b
synonym: "FEB3B" EXACT ABBREVIATION [OMIM:613863]
xref: MEDGEN:462579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613863 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3151229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462579"}
is_a: MONDO:0000032 {source="https://orcid.org/0000-0001-5208-3432"} ! febrile seizures, familial
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800355
name: parasomnia, sleep terrors type
synonym: "PSMNST" EXACT ABBREVIATION [OMIM:613938]
xref: MEDGEN:462714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613938 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3151364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462714"}
is_a: MONDO:0100081 {source="https://orcid.org/0000-0001-5208-3432"} ! sleep disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800356
name: short-rib thoracic dysplasia 7/20 with polydactyly, digenic
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "SRTD7/20" EXACT ABBREVIATION [OMIM:614091]
xref: MEDGEN:1662086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614091 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4747658 {source="MONDO:equivalentTo", source="MEDGEN:1662086", source="MONDO:MEDGEN"}
is_a: MONDO:0019691 {source="https://orcid.org/0000-0001-5208-3432"} ! short rib dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800357
name: hyperpigmentation, progressive cribriform and zosteriform
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PCZH" EXACT ABBREVIATION [OMIM:614323]
xref: MEDGEN:75526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614323 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C0263579 {source="MEDGEN:75526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019289 {source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800358
name: schizophrenia 17
synonym: "SCZD17" EXACT ABBREVIATION [OMIM:614332]
xref: MEDGEN:482154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614332 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3280524 {source="MEDGEN:482154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005090 {source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800359
name: retinitis pigmentosa 64
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "RP64" EXACT ABBREVIATION [OMIM:614500]
xref: MEDGEN:482676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614500 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3281046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482676"}
is_a: MONDO:0019200 {source="https://orcid.org/0000-0001-5208-3432"} ! retinitis pigmentosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800363
name: Joubert syndrome 19
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "JBTS19" EXACT ABBREVIATION [OMIM:614844]
xref: MEDGEN:766760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614844 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3553846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766760"}
is_a: MONDO:0018772 {source="https://orcid.org/0000-0001-5208-3432"} ! Joubert syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800364
name: peroxisome biogenesis disorder, complementation group 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CG3" EXACT ABBREVIATION [OMIM:614859]
xref: MEDGEN:356508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614859 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1866340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356508"}
is_a: MONDO:0100266 {source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder due to PEX12 defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800365
name: peroxisome biogenesis disorder, complementation group K
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CGK" EXACT ABBREVIATION [OMIM:614887]
xref: MEDGEN:356487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614887 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1866257 {source="MEDGEN:356487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100268 {source="https://orcid.org/0000-0001-5208-3432"} ! peroxisome biogenesis disorder due to PEX14 defect
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800366
name: dyskeratosis congenita, autosomal dominant 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DKCA4" EXACT ABBREVIATION [OMIM:615190]
xref: DOID:0070020 {source="MONDO:equivalentTo"}
xref: MEDGEN:815132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615190 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3808802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815132"}
is_a: MONDO:0015780 {source="https://orcid.org/0000-0001-5208-3432"} ! dyskeratosis congenita
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800367
name: cardiomyopathy, dilated, 1LL
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMD1LL" EXACT ABBREVIATION [OMIM:615373]
xref: MEDGEN:815619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615373 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3809289 {source="MEDGEN:815619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="https://orcid.org/0000-0001-5208-3432"} ! familial dilated cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800368
name: cardiomyopathy, dilated, 1MM
def: "A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11." [DOID:0081158]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "CMD1MM" EXACT ABBREVIATION [OMIM:615396]
xref: DOID:0081158 {source="MONDO:equivalentTo"}
xref: MEDGEN:815676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615396 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3809346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815676"}
is_a: MONDO:0016333 {source="https://orcid.org/0000-0001-5208-3432"} ! familial dilated cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800369
name: parkinson disease 19B, early-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PARK19B" EXACT ABBREVIATION [OMIM:615528]
xref: MEDGEN:934769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615528 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4310802 {source="MEDGEN:934769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000828 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile-onset Parkinson disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800370
name: dyskeratosis congenita, autosomal recessive 7
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DKCB7" EXACT ABBREVIATION [OMIM:616553]
xref: MEDGEN:903803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616553 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4225283 {source="MEDGEN:903803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015780 {source="https://orcid.org/0000-0001-5208-3432"} ! dyskeratosis congenita
is_a: MONDO:0100569 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD-related short telomere syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI

[Term]
id: MONDO:0800371
name: cardiomyopathy, familial restrictive, 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "RCM5" EXACT ABBREVIATION [OMIM:617047]
xref: MEDGEN:934715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617047 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4310748 {source="MONDO:equivalentTo", source="MEDGEN:934715", source="MONDO:MEDGEN"}
is_a: MONDO:0024573 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypertrophic cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800372
name: Joubert syndrome 29
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS29" EXACT ABBREVIATION [OMIM:617562]
xref: DOID:0080276 {source="MONDO:equivalentTo"}
xref: MEDGEN:1625238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617562 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4539715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625238"}
is_a: MONDO:0018772 {source="https://orcid.org/0000-0001-5208-3432"} ! Joubert syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800373
name: carbon monoxide poisoning
def: "A poisoning that is caused by exposure to carbon monoxide." [MONDO:patterns/patterns/poisoning]
subset: otar {source="MONDO:OTAR"}
synonym: "CO Poisoning" EXACT [https://orcid.org/0000-0001-7151-1615]
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:17245 ! carbon monoxide
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0800374
name: ventricular tachycardia, catecholaminergic polymorphic 6
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CPVT6" EXACT ABBREVIATION [OMIM:618782]
xref: MEDGEN:1712279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618782 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C5394069 {source="MONDO:equivalentTo", source="MEDGEN:1712279", source="MONDO:MEDGEN"}
is_a: MONDO:0017990 {source="https://orcid.org/0000-0001-5208-3432"} ! catecholaminergic polymorphic ventricular tachycardia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800375
name: developmental delay, epilepsy, and neonatal diabetes 1
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEND1" EXACT ABBREVIATION [OMIM:618856]
xref: MEDGEN:1709191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618856 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C5394597 {source="MEDGEN:1709191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019207 {source="https://orcid.org/0000-0001-5208-3432"} ! DEND syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800376
name: developmental delay, epilepsy, and neonatal diabetes 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "DEND2" EXACT ABBREVIATION [OMIM:618857]
xref: MEDGEN:1712655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:618857 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C5394304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712655"}
is_a: MONDO:0019207 {source="https://orcid.org/0000-0001-5208-3432"} ! DEND syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800377
name: ACTH-independent adrenal Cushing syndrome, somatic
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:615830 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0020529 {source="https://orcid.org/0000-0001-5208-3432"} ! ACTH-independent Cushing syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800378
name: 17,20-lyase deficiency, isolated
xref: MEDGEN:479479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:202110 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3277849 {source="MEDGEN:479479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800379
name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
xref: OMIM:202110 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800380
name: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
xref: MEDGEN:865627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:202110 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4017190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:865627"}
is_a: MONDO:0005151 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800381
name: 46,XX true hermaphroditism, SRY-positive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:40004 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0017576 {source="https://orcid.org/0000-0001-5208-3432"} ! 46,XX disorder of sex development
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800382
name: Joubert syndrome 11
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "JBTS11" EXACT ABBREVIATION [OMIM:613820]
xref: MEDGEN:480833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613820 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3279203 {source="MEDGEN:480833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018772 {source="https://orcid.org/0000-0001-5208-3432"} ! Joubert syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800383
name: Joubert syndrome 34
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "JBTS34" EXACT ABBREVIATION [OMIM:614175]
xref: MEDGEN:1612206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614175 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4539386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1612206"}
is_a: MONDO:0018772 {source="https://orcid.org/0000-0001-5208-3432"} ! Joubert syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800384
name: cesium poisoning
def: "A heavy metal poisoning that is caused by exposure to cesium." [MONDO:patterns/patterns/poisoning]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0023305 {source="https://orcid.org/0000-0001-7151-1615"} ! heavy metal poisoning
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0800385
name: iron poisoning
def: "A heavy metal poisoning that is caused by exposure to iron. Iron toxicity is classified as corrosive or cellular. Ingested iron can cause direct caustic injury to the gastrointestinal mucosa, resulting in nausea, vomiting, abdominal pain, and diarrhea." [https://orcid.org/0000-0001-7151-1615, MONDO:patterns/patterns/poisoning]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "iron overload" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "iron toxicity" EXACT [https://orcid.org/0000-0001-7151-1615]
is_a: MONDO:0023305 {source="PMID:29083637", source="https://orcid.org/0000-0001-7151-1615"} ! heavy metal poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:18248 ! iron atom
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0800386
name: organophosphate poisoning
def: "A poisoning that is caused by exposure to organophosphate." [MONDO:patterns/patterns/poisoning]
synonym: "insecticide poisoning" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "organophosphate exposure" EXACT [https://orcid.org/0000-0001-7151-1615]
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-5208-3432"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:25703 ! organic phosphate
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0800387
name: sulfur mustard poisoning
def: "A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death." [https://orcid.org/0000-0001-7151-1615, MONDO:patterns/patterns/poisoning]
synonym: "mustard agent poisoning" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "mustard gas poisoning" EXACT [https://orcid.org/0000-0001-7151-1615]
is_a: MONDO:0029000 {source="PMID:2681003", source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0800388
name: cardiac glycoside intoxication
def: "A poisoning that is caused by exposure to cardiac glycoside." [MONDO:patterns/patterns/poisoning]
synonym: "cardiac glycoside poisoning" EXACT [https://orcid.org/0000-0001-7151-1615]
synonym: "digitalis intoxication" NARROW [https://orcid.org/0000-0001-7151-1615]
synonym: "digitalis toxicity" NARROW [https://orcid.org/0000-0001-7151-1615]
is_a: MONDO:0029000 {source="PMID:26505271", source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
intersection_of: MONDO:0029000 ! poisoning
intersection_of: realized_in_response_to_stimulus CHEBI:83970 ! cardiac glycoside
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0800389
name: monochloroacetic acid poisoning
def: "A poisoning that is caused by exposure to monochloroacetic acid." [MONDO:patterns/patterns/poisoning]
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0800390
name: chemotherapy-induced toxicity
def: "Toxicities following administration of chemotherapeutic agents" [https://orcid.org/0000-0001-7151-1615]
is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5528" xsd:anyURI

[Term]
id: MONDO:0800391
name: EYS-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the EYS gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21555 {source="https://clinicalgenome.org/affiliation/40072/"} ! EYS
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800392
name: GNAT2-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4394 {source="https://clinicalgenome.org/affiliation/40072/"} ! GNAT2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800393
name: IDH3B-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the IDH3B gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5385 {source="https://clinicalgenome.org/affiliation/40072/"} ! IDH3B
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800394
name: MERTK-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the MERTK gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7027 {source="https://clinicalgenome.org/affiliation/40072/"} ! MERTK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800395
name: PRPF31-related retinopathy
def: "An inherited retinopathy caused by variants in the PRPF31 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15446 {source="https://clinicalgenome.org/affiliation/40072/"} ! PRPF31
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800396
name: GPR179-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the GPR179 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31371 {source="https://clinicalgenome.org/affiliation/40072/"} ! GPR179
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800397
name: GRM6-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the GRM6 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4598 {source="https://clinicalgenome.org/affiliation/40072/"} ! GRM6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800398
name: ADAM9-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/216 {source="https://clinicalgenome.org/affiliation/40072/"} ! ADAM9
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800399
name: RP1-related recessive retinopathy
def: "An autosomal dominant retinopathy caused by variants in the RP1 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_characteristic HP:0000007 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal recessive inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10263 {source="https://clinicalgenome.org/affiliation/40072/"} ! RP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800400
name: RP1-related dominant retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the RP1 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_characteristic HP:0000006 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10263 {source="https://clinicalgenome.org/affiliation/40072/"} ! RP1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800401
name: CERKL-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the CERKL gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21699 {source="https://clinicalgenome.org/affiliation/40072/"} ! CERKL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800402
name: TRPM1-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7146 {source="https://clinicalgenome.org/affiliation/40072/"} ! TRPM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800403
name: CNGB1-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2151 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800404
name: PCARE-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the PCARE gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800405
name: CNGA1-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2148 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGA1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI

[Term]
id: MONDO:0800406
name: ABCA4-related retinopathy
def: "An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6138" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6168" xsd:anyURI

[Term]
id: MONDO:0800407
name: NYX-related retinopathy
def: "An X-linked retinopathy caused by variants in the NYX gene." [https://clinicalgenome.org/affiliation/40072/, MONDO:patterns/disease_series_by_gene]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8082 {source="https://clinicalgenome.org/affiliation/40072/"} ! NYX
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5693" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6169" xsd:anyURI

[Term]
id: MONDO:0800408
name: urogenital adysplasia
xref: MEDGEN:436071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:277000 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2674045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436071"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800409
name: ventricular fibrillation during myocardial infarction, susceptibility to
xref: MEDGEN:866105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:603829 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4017668 {source="MEDGEN:866105", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800410
name: UV-induced skin damage, susceptibility to
xref: MEDGEN:394510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:266300 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2678403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394510"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800412
name: yakut short stature syndrome
xref: OMIM:273750 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800413
name: antisocial behavior, susceptibility to
xref: MEDGEN:934798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:300615 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C4310831 {source="MEDGEN:934798", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800414
name: aplastic anemia, susceptibility to
xref: MEDGEN:394560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:609135 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2684859 {source="MONDO:equivalentTo", source="MEDGEN:394560", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0015909 {source="https://github.com/monarch-initiative/mondo/issues/5507"} ! aplastic anemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800415
name: asthma, aspirin-induced, susceptibility to
xref: MEDGEN:362637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:208550 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1876174 {source="MEDGEN:362637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0004979 {source="https://orcid.org/0000-0001-5208-3432"} ! asthma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800416
name: autism, susceptibility to, 1
subset: predisposition
synonym: "autism susceptibility 1" EXACT CLINGEN_LABEL []
synonym: "autism susceptibility 1, isolated cases" EXACT [OMIM:209850, OMIM:genemap2]
synonym: "AUTS1" EXACT ABBREVIATION [OMIM:209850]
xref: MEDGEN:369890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:209850 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1968924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369890"}
is_a: MONDO:0020836 {source="https://orcid.org/0000-0001-5208-3432"} ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 {source="https://orcid.org/0000-0001-5208-3432"} ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800417
name: autism, susceptibility to, 4
synonym: "AUTS4" EXACT ABBREVIATION [OMIM:608636]
xref: MEDGEN:361812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608636 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1876176 {source="MEDGEN:361812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020836 {source="https://orcid.org/0000-0001-5208-3432"} ! autism, susceptiblity to
relationship: predisposes_towards MONDO:0005260 {source="https://orcid.org/0000-0001-5208-3432"} ! autism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800418
name: breast cancer, familial, susceptibility to, 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:604370 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007254 {source="https://orcid.org/0000-0001-5208-3432"} ! breast cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800419
name: breast cancer, familial, susceptibility to, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:612555 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007254 {source="https://orcid.org/0000-0001-5208-3432"} ! breast cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800420
name: breast cancer, familial, susceptibility to, 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:462010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613399 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3150660 {source="MEDGEN:462010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0007254 {source="https://orcid.org/0000-0001-5208-3432"} ! breast cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800421
name: cardiomyopathy, familial hypertrophic, 4, susceptibility to
xref: MEDGEN:414013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:115197 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2751427 {source="MEDGEN:414013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005045 {source="https://orcid.org/0000-0001-5208-3432"} ! hypertrophic cardiomyopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800422
name: cirrhosis, noncryptogenic, susceptibility to
xref: MEDGEN:324345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:215600 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1835713 {source="MEDGEN:324345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800423
name: colorectal cancer, susceptibility to, 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CRCS4" EXACT ABBREVIATION [OMIM:60122]
xref: MEDGEN:394248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601228 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2677290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394248"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005575 {source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800424
name: colorectal cancer, susceptibility to, on chromosome 15
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:394249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:601228 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2677291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394249"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005575 {source="https://orcid.org/0000-0001-5208-3432"} ! colorectal cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800425
name: coronary artery disease, severe, susceptibility to
xref: MEDGEN:349546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:617347 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1862591 {source="MEDGEN:349546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800426
name: dengue fever, susceptibility to
xref: OMIM:614371 {source="MONDO:includedEntryInOMIM"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800427
name: dengue hemorrhagic fever, susceptibility to
xref: MEDGEN:482214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614371 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3280584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482214"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800428
name: dengue shock syndrome, susceptibility to
xref: MEDGEN:482215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614371 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3280585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482215"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800429
name: dyslexia, susceptibility to, 4
synonym: "DYX4" EXACT ABBREVIATION [OMIM:127700]
xref: MEDGEN:338829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:127700 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1851968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338829"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800430
name: dyslexia, susceptibility to, 7
synonym: "DYX7" EXACT ABBREVIATION [OMIM:127700]
xref: MEDGEN:338830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:127700 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1851969 {source="MEDGEN:338830", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0005489 {source="https://orcid.org/0000-0001-5208-3432"} ! dyslexia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800431
name: efavirenz central nervous system toxicity, susceptibility to
xref: MEDGEN:482783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614546 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3281153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482783"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800432
name: obesity, susceptibility to
xref: MEDGEN:356231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613444 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C1866432 {source="MEDGEN:356231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800433
name: ovarian cancer, familial, susceptibility to, 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:393561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:604370 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2676678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393561"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0008170 {source="https://orcid.org/0000-0001-5208-3432"} ! ovarian cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800434
name: ovarian cancer, familial, susceptibility to, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:382627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:612555 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C2675522 {source="MEDGEN:382627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0008170 {source="https://orcid.org/0000-0001-5208-3432"} ! ovarian cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800435
name: ovarian cancer, familial, susceptibility to, 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:462011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613399 {source="MONDO:includedEntryInOMIM"}
xref: UMLS:C3150661 {source="MEDGEN:462011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0008170 {source="https://orcid.org/0000-0001-5208-3432"} ! ovarian cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:0800436
name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
def: "Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene." [https://orcid.org/0000-0001-5208-3432, MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:1210", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1394"}
subset: ordo_malformation_syndrome {source="Orphanet:1394"}
subset: orphanet_rare {source="Orphanet:1394"}
subset: rare
synonym: "cerebro facio thoracic dysplasia" RELATED [GARD:0001210]
synonym: "cerebrofaciothoracic dysplasia" EXACT CLINGEN_LABEL [GARD:0001210, OMIM:213980]
synonym: "CFSMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:213980]
synonym: "CFSMR1" EXACT [MONDO:Lexical, OMIM:213980]
synonym: "pascual-Castroviejo syndrome" RELATED [GARD:0001210]
synonym: "pascual-Castroviejo syndrome type 1" EXACT [Orphanet:1394]
xref: DOID:0081124 {source="MONDO:equivalentTo"}
xref: GARD:1210 {source="MONDO:GARD"}
xref: ICD10CM:Q87.5 {source="Orphanet:1394/attributed", source="Orphanet:1394/ntbt", source="Orphanet:1394"}
xref: MEDGEN:1808104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C565862 {source="MONDO:equivalentTo"}
xref: OMIM:213980 {source="GARD:0001210", source="Orphanet:1394/e", source="MONDO:equivalentTo", source="Orphanet:1394"}
xref: Orphanet:1394 {source="OMIM:213980", source="MONDO:equivalentTo"}
xref: SCTID:720635002 {source="MONDO:equivalentTo"}
xref: UMLS:C5677021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808104"}
is_a: MONDO:0031329 {source="OMIM:213980"} ! craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1394", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:1394", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dysostosis of genetic origin
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia" xsd:anyURI {source="GARD:0001210"}

[Term]
id: MONDO:0800437
name: Carey-Fineman-Ziter syndrome 1
def: "A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay." [Orphanet:1358]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_malformation_syndrome {source="Orphanet:1358"}
subset: rare
synonym: "Carey Fineman Ziter syndrome" RELATED [GARD:0003889]
synonym: "Carey-Fineman-Ziter syndrome 1" EXACT [OMIM:254940, Orphanet:1358]
synonym: "CFZS" RELATED ABBREVIATION [GARD:0003889, OMIM:254940]
synonym: "CFZS1" EXACT ABBREVIATION [OMIM:254940]
synonym: "congenital nonprogressive myopathy with Moebius and Robin sequences" RELATED [GARD:0003889]
synonym: "Moebius sequence, Robin complex, and hypotonia" RELATED [GARD:0003889]
synonym: "myopathy, congenital nonprogressive with Moebius and Robin sequences" RELATED [GARD:0003889]
synonym: "myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence" EXACT [OMIM:254940]
synonym: "myopathy-Moebius-Robin syndrome" EXACT [Orphanet:1358]
xref: DOID:0080194 {source="MONDO:equivalentTo"}
xref: ICD10CM:Q87.0 {source="Orphanet:1358", source="Orphanet:1358/attributed", source="Orphanet:1358/ntbt"}
xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:1804638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536102 {source="MONDO:equivalentTo"}
xref: OMIM:254940 {source="MONDO:equivalentTo", source="Orphanet:1358", source="Orphanet:1358/e"}
xref: SCTID:429753001 {source="MONDO:equivalentTo"}
xref: UMLS:C5676876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804638"}
is_a: MONDO:0031415 {source="OMIM:254940"} ! Carey-Fineman-Ziter syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:1358", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: excluded_subClassOf MONDO:0015335 {source="Orphanet:1358", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Mendelian syndromes with cleft lip/palate
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33778 {source="MONDO:mim2gene_medgen"} ! MYMK
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6049" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome" xsd:anyURI {source="GARD:0003889"}

[Term]
id: MONDO:0800438
name: developmental delay with short stature, dysmorphic facial features, and sparse hair 1
def: "Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:17814", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:459061"}
subset: ordo_malformation_syndrome {source="Orphanet:459061"}
subset: orphanet_rare {source="Orphanet:459061"}
subset: rare
synonym: "DEDSSH1" EXACT ABBREVIATION [OMIM:616901]
synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair" BROAD [OMIM:616901, OMIM:genemap2]
synonym: "developmental delay with short stature, dysmorphic features, and sparse hair 1" EXACT [OMIM:616901]
synonym: "developmental delay-short stature-dysmorphic features-sparse hair syndrome" BROAD [Orphanet:459061]
synonym: "diphtamide deficiency syndrome" EXACT [OMIM:616901]
synonym: "Loucks-Innes syndrome" RELATED [OMIM:616901]
xref: DOID:0070477 {source="MONDO:equivalentTo"}
xref: GARD:17814 {source="MONDO:GARD"}
xref: OMIM:616901 {source="Orphanet:459061", source="MONDO:equivalentTo", source="Orphanet:459061/e"}
xref: Orphanet:459061 {source="MONDO:equivalentTo"}
is_a: MONDO:0031632 {source="OMIM:616901"} ! developmental delay with short stature, dysmorphic facial features, and sparse hair
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459061", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:459061", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete dysostosis of genetic origin
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3003 {source="MONDO:mim2gene_medgen"} ! DPH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:0800439
name: syndromic complex neurodevelopmental disorder
def: "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations." [https://clinicalgenome.org/working-groups/clinical-domain/neurodevelopmental-disorders/]
subset: clingen {source="MONDO:CLINGEN"}
subset: inferred_rare
subset: rare
is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder
is_a: MONDO:0700092 {source="https://clinicalgenome.org/working-groups/clinical-domain/neurodevelopmental-disorders/"} ! neurodevelopmental disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6223" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6439" xsd:anyURI

[Term]
id: MONDO:0800440
name: HAND1 related congenital heart defect
def: "A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle." [https://clinicalgenome.org/affiliation/40130/, PMID:22032825, PMID:27942761, PMID:28112363]
synonym: "HAND1-related congenital heart defect" EXACT [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4807 {source="https://clinicalgenome.org/affiliation/40130/"} ! HAND1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6224" xsd:anyURI

[Term]
id: MONDO:0800441
name: NKX2.5-related congenital, conduction and myopathic heart disease
def: "A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome." [https://clinicalgenome.org/affiliation/40130/, PMID:10587520, PMID:11714651, PMID:14607454, PMID:15810002, PMID:16896344, PMID:19948535, PMID:20456451, PMID:20659440, PMID:21110066, PMID:21165553, PMID:28991257, PMID:34214246]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "NKX2-5-related congenital, conduction and myopathic heart disease" EXACT [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0000992 {source="https://clinicalgenome.org/affiliation/40130/"} ! heart conduction disease
is_a: MONDO:0004994 {source="https://clinicalgenome.org/affiliation/40130/"} ! cardiomyopathy
relationship: has_characteristic MONDO:0021140 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="https://clinicalgenome.org/affiliation/40130/"} ! NKX2-5
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6225" xsd:anyURI

[Term]
id: MONDO:0800442
name: MYH-6 related congenital heart defects
def: "A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome." [https://clinicalgenome.org/affiliation/40130/, PMID:15735645, PMID:20656787, PMID:22194935, PMID:29505555, PMID:29590334, PMID:29969989, PMID:31638415, PMID:34384224, PMID:34481090, PMID:35863714]
synonym: "MYH6 related congenital heart defects" EXACT [https://orcid.org/0000-0001-5208-3432]
is_a: MONDO:0000119 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart defects, multiple types
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="https://clinicalgenome.org/affiliation/40130/"} ! MYH6
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6226" xsd:anyURI

[Term]
id: MONDO:0800443
name: DEAF1-associated neurodevelopmental disorder
def: "A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively." [PMID:30923367]
subset: inferred_rare
subset: rare
is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14677 {source="https://clinicalgenome.org/affiliation/40006/"} ! DEAF1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6228" xsd:anyURI

[Term]
id: MONDO:0800444
name: Birt-Hogg-Dube syndrome
synonym: "BHD" EXACT ABBREVIATION [OMIMPS:135150]
xref: MEDGEN:91070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:135150 {source="MONDO:equivalentTo"}
xref: UMLS:C0346010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91070"}
is_a: MONDO:0000426 {source="OMIMPS:135150"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:135150"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6518" xsd:anyURI

[Term]
id: MONDO:0800445
name: Birt-Hogg-Dube syndrome 1
def: "Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:2322", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:122"}
subset: ordo_malformation_syndrome {source="Orphanet:122"}
subset: orphanet_rare {source="Orphanet:122"}
subset: rare
synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [OMIM:135150, Orphanet:122]
synonym: "Hornstein-Knickenberg syndrome" EXACT [OMIM:135150]
xref: DOID:0050676 {source="MONDO:equivalentTo"}
xref: GARD:2322 {source="MONDO:GARD"}
xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10067736 {source="Orphanet:122/e", source="Orphanet:122"}
xref: MESH:D058249 {source="Orphanet:122/e", source="MONDO:equivalentTo", source="Orphanet:122"}
xref: NCIT:C28244 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"}
xref: OMIM:135150 {source="Orphanet:122/e", source="DOID:0050676", source="MONDO:equivalentTo", source="Orphanet:122"}
xref: Orphanet:122 {source="OMIM:135150", source="MONDO:equivalentTo"}
xref: SCTID:110985001 {source="MONDO:equivalentTo"}
is_a: MONDO:0800444 {source="OMIM:135150"} ! Birt-Hogg-Dube syndrome
intersection_of: MONDO:0800444 ! Birt-Hogg-Dube syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27310 ! FLCN
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6518" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI

[Term]
id: MONDO:0800446
name: bleeding diathesis due to thromboxane synthesis deficiency
def: "A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction)." [Orphanet:220443]
subset: gard_rare {source="GARD:17132", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:220443"}
subset: orphanet_rare {source="Orphanet:220443"}
subset: rare
xref: GARD:17132 {source="MONDO:GARD"}
xref: ICD10CM:D69.8 {source="Orphanet:220443/attributed", source="Orphanet:220443/ntbt", source="Orphanet:220443"}
xref: icd11.foundation:1676860885 {source="Orphanet:220443", source="MONDO:equivalentTo"}
xref: MEDGEN:1678745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:220443 {source="MONDO:equivalentTo", source="OMIM:614009"}
xref: UMLS:C5190857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678745"}
is_a: MONDO:0000009 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited bleeding disorder, platelet-type
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11608 {source="MONDO:mim2gene_medgen", source="Orphanet:220443"} ! TBXA2R
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6419" xsd:string

[Term]
id: MONDO:0800447
name: bleeding disorder, platelet-type, 13, susceptibility to
subset: predisposition
synonym: "BDPLT13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614009]
synonym: "bleeding disorder, platelet-type, 13, susceptibility to" EXACT [MONDO:Lexical, OMIM:614009]
synonym: "bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor" EXACT [OMIM:614009]
synonym: "susceptibility to platelet-type bleeding disorder 13" EXACT [OMIM:614009]
xref: MEDGEN:481244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:614009 {source="Orphanet:220443", source="MONDO:equivalentTo", source="Orphanet:220443/e"}
xref: UMLS:C3279614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481244"}
is_a: MONDO:0020573 {source="OMIM:614009"} ! inherited disease susceptibility
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11608 {source="MONDO:mim2gene_medgen"} ! TBXA2R
relationship: predisposes_towards MONDO:0800446 {source="OMIM:614009"} ! bleeding diathesis due to thromboxane synthesis deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6419" xsd:string

[Term]
id: MONDO:0800448
name: leukoencephalopathy with vanishing white matter
def: "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \"foamy'' aspect." [Orphanet:135]
subset: gard_rare {source="GARD:231", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:135"}
subset: orphanet_rare {source="Orphanet:135"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "CACH" EXACT ABBREVIATION [DOID:0060868]
synonym: "CACH syndrome" RELATED [Orphanet:135]
synonym: "CACH/VWM" RELATED [GARD:0000231]
synonym: "CACH/VWM syndrome" RELATED [GARD:0000231]
synonym: "childhood ataxia with central nervous system hypomyelination" EXACT [DOID:0060868]
synonym: "childhood ataxia with central nervous system hypomyelination/vanishing white matter" RELATED [GARD:0000231]
synonym: "childhood ataxia with central nervous system hypomyelinization" RELATED [OMIM:603896]
synonym: "childhood ataxia with diffuse central nervous system hypomyelination" EXACT [Orphanet:135]
synonym: "CLE" RELATED EXCLUDE [DOID:0060868]
synonym: "Cree leukoencephalopathy" NARROW [DOID:0060868, GARD:0000231]
synonym: "leukoencephalopathy with vanishing WHITE matter" RELATED [OMIM:603896]
synonym: "leukoencephalopathy with vanishing white matter" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:603896, Orphanet:135]
synonym: "myelinosis centralis diffusa" EXACT [Orphanet:135]
synonym: "ovarioleukodystrophy" RELATED [OMIM:603896]
synonym: "vanishing white matter disease" RELATED [GARD:0000231]
synonym: "vanishing White matter leukodystrophy" RELATED [OMIM:603896]
synonym: "vanishing white matter leukodystrophy" RELATED [DOID:0060868]
synonym: "vanishing White matter leukodystrophy with ovarian failure" RELATED [OMIM:603896]
synonym: "VWM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603896]
xref: DOID:0060868 {source="MONDO:equivalentTo"}
xref: GARD:231 {source="MONDO:GARD"}
xref: ICD10CM:E75.2 {source="Orphanet:135/attributed", source="Orphanet:135/ntbt", source="DOID:0060868", source="Orphanet:135"}
xref: MEDGEN:347037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537420 {source="Orphanet:135/e", source="Orphanet:135"}
xref: NCIT:C122664 {source="MONDO:equivalentTo"}
xref: OMIMPS:603896 {source="MONDO:equivalentTo"}
xref: Orphanet:135 {source="OMIM:603896", source="MONDO:equivalentTo", source="DOID:0060868"}
xref: Orphanet:157713 {source="OMIM:603896"}
xref: Orphanet:157716 {source="OMIM:603896"}
xref: Orphanet:157719 {source="OMIM:603896"}
xref: Orphanet:99853 {source="OMIM:603896"}
xref: Orphanet:99854 {source="OMIM:603896"}
xref: SCTID:447351004 {source="MONDO:equivalentTo"}
xref: UMLS:C1858991 {source="MEDGEN:347037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="DOID:0060868", source="Orphanet:135"} ! leukodystrophy
relationship: has_characteristic MONDO:0021152 ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6216" xsd:anyURI

[Term]
id: MONDO:0800449
name: lysosomal acid lipase deficiency
subset: gard_rare {source="GARD:12097", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:275761"}
subset: orphanet_rare {source="Orphanet:275761"}
subset: rare
synonym: "LAL deficiency" EXACT [Orphanet:275761]
xref: DOID:0080217 {source="MONDO:equivalentTo"}
xref: GARD:12097 {source="MONDO:GARD"}
xref: ICD10CM:E75.5 {source="Orphanet:275761/attributed", source="Orphanet:275761/ntbt", source="Orphanet:275761"}
xref: MEDGEN:423619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531854 {source="MONDO:equivalentTo"}
xref: OMIMPS:278000 {source="MONDO:equivalentTo"}
xref: Orphanet:275761 {source="MONDO:equivalentTo"}
xref: SCTID:715923003 {source="MONDO:equivalentTo"}
xref: UMLS:C2936797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423619"}
is_a: MONDO:0003847 {source="OMIMPS:278000"} ! hereditary disease
is_a: MONDO:0015905 {source="Orphanet:275761"} ! syndromic dyslipidemia
is_a: MONDO:0019245 {source="DOID:0080217", source="MESH:C531854/inferred", source="Orphanet:275761", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal lipid storage disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:278000"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6379" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI

[Term]
id: MONDO:0800450
name: microcephaly, short stature, and impaired glucose metabolism
xref: MEDGEN:1631599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:616033 {source="MONDO:equivalentTo"}
xref: UMLS:C4552103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631599"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:616033"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6777" xsd:anyURI

[Term]
id: MONDO:0800451
name: congenital amegakaryocytic thrombocytopenia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "congenital amegakaryocytic thrombocytopenia" EXACT CLINGEN_LABEL [OMIMPS:604498]
xref: MEDGEN:272171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:604498 {source="MONDO:equivalentTo"}
xref: UMLS:C1327915 {source="MEDGEN:272171", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100241 {source="DOID:0090118", source="MESH:C535982", source="MONDO:Redundant"} ! inherited thrombocytopenia
relationship: excluded_subClassOf MONDO:0001713 {source="Orphanet:3319", source="https://orcid.org/0000-0001-5208-3432"} ! inherited aplastic anemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604498"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6622" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia" xsd:anyURI {source="GARD:0000640"}

[Term]
id: MONDO:0800452
name: congenital amegakaryocytic thrombocytopenia 1
def: "A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood." [https://orcid.org/0000-0001-5208-3432, Orphanet:3319]
subset: gard_rare {source="GARD:640", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:3319"}
subset: orphanet_rare {source="Orphanet:3319"}
subset: rare
synonym: "amegakaryocytic thrombocytopenia, congenital 1" EXACT [MONDO:Lexical, OMIM:604498]
synonym: "CAMT1" EXACT ABBREVIATION [DOID:0090118, MONDO:Lexical, OMIM:604498, Orphanet:3319]
synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [DOID:0090118, Orphanet:3319]
synonym: "thrombocytopenia congenital amegakaryocytic" RELATED [GARD:0000640]
synonym: "thrombocytopenia, congenital amegakaryocytic" EXACT [OMIM:604498, OMIM:genemap2]
xref: DOID:0090118 {source="MONDO:equivalentTo"}
xref: GARD:640 {source="MONDO:GARD"}
xref: ICD10CM:D61.0 {source="Orphanet:3319/attributed", source="Orphanet:3319/ntbt", source="Orphanet:3319", source="DOID:0090118"}
xref: MESH:C535982 {source="Orphanet:3319/e", source="MONDO:equivalentTo", source="Orphanet:3319", source="DOID:0090118"}
xref: NCIT:C115207 {source="MONDO:equivalentTo"}
xref: OMIM:604498 {source="Orphanet:3319/e", source="MONDO:equivalentTo", source="Orphanet:3319", source="DOID:0090118"}
xref: Orphanet:3319 {source="OMIM:604498", source="MONDO:equivalentTo", source="DOID:0090118"}
xref: SCTID:716336002 {source="MONDO:equivalentTo"}
is_a: MONDO:0800451 {source="OMIM:604498", source="https://orcid.org/0000-0001-5208-3432"} ! congenital amegakaryocytic thrombocytopenia
intersection_of: MONDO:0800451 ! congenital amegakaryocytic thrombocytopenia
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7217 ! MPL
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7217 {source="MONDO:mim2gene_medgen"} ! MPL
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6622" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia" xsd:anyURI {source="GARD:0000640"}

[Term]
id: MONDO:0800453
name: juvenile absence epilepsy
def: "A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks." [Orphanet:1941]
subset: gard_rare {source="GARD:2162", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1941"}
subset: orphanet_rare {source="Orphanet:1941"}
subset: rare
synonym: "epilepsy juvenile absence" RELATED [GARD:0002162]
synonym: "JAE" EXACT ABBREVIATION [Orphanet:1941]
xref: DOID:0060172 {source="MONDO:equivalentTo"}
xref: GARD:2162 {source="MONDO:GARD"}
xref: icd11.foundation:519416529 {source="MONDO:equivalentTo", source="Orphanet:1941", source="https://orcid.org/0000-0002-4142-7153"}
xref: MEDGEN:1388059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C129868 {source="MONDO:equivalentTo"}
xref: Orphanet:1941 {source="MONDO:equivalentTo", source="OMIM:607631"}
xref: SCTID:230413002 {source="MONDO:equivalentTo"}
xref: UMLS:C4317339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388059"}
is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome
is_a: MONDO:0850093 {source="https://orcid.org/0000-0001-5208-3432"} ! absence epilepsy
relationship: has_characteristic MONDO:0021152 {source="Orphanet:1941"} ! inherited
relationship: predisposes_towards MONDO:0800453 ! juvenile absence epilepsy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6897" xsd:anyURI
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/jae-overview.html" xsd:anyURI

[Term]
id: MONDO:0800455
name: Birt-Hogg-Dube syndrome 2
def: "Birt-Hogg-Dube syndrome caused by the mutations in PRDM10." [MONDO:patterns/disease_series_by_gene]
synonym: "BHD2" EXACT ABBREVIATION [OMIM:620459]
xref: MEDGEN:1841312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620459 {source="MONDO:equivalentTo"}
xref: UMLS:C5830676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841312"}
is_a: MONDO:0800444 {source="OMIM:620459"} ! Birt-Hogg-Dube syndrome
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6546" xsd:anyURI

[Term]
id: MONDO:0800456
name: SYNCRIP-related neurodevelopmental disorder
def: "Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces." [https://orcid.org/0000-0001-9310-0163, MONDO:patterns/disease_series_by_gene, PMID:34157790]
is_a: MONDO:0100500 {source="PMID:34157790", source="https://orcid.org/0000-0001-9310-0163"} ! Mendelian neurodevelopmental disorder
intersection_of: MONDO:0700092 ! neurodevelopmental disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16918 ! SYNCRIP
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6965" xsd:anyURI

[Term]
id: MONDO:0800457
name: HNRNPC-related neurodevelopmental disorder
def: "Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants." [https://orcid.org/0000-0001-9310-0163, MONDO:patterns/disease_series_by_gene, PMID:37541189]
is_a: MONDO:0100500 {source="PMID:37541189", source="https://orcid.org/0000-0001-9310-0163"} ! Mendelian neurodevelopmental disorder
intersection_of: MONDO:0700092 ! neurodevelopmental disorder
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5035 ! HNRNPC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6964" xsd:anyURI

[Term]
id: MONDO:0800458
name: NR2F2 related multiple congenital anomalies/dysmorphic syndrome
def: "A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta." [https://clinicalgenome.org/affiliation/40130/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ARP1-related multiple congenital anomalies/dysmorphic syndrome" EXACT [https://clinicalgenome.org/affiliation/40130/]
synonym: "COUPTFII-related multiple congenital anomalies/dysmorphic syndrome" EXACT [https://clinicalgenome.org/affiliation/40130/]
synonym: "NR2F2 related multiple congenital anomalies/dysmorphic syndrome" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40130/]
synonym: "TCOUP2-related multiple congenital anomalies/dysmorphic syndrome" EXACT [https://clinicalgenome.org/affiliation/40130/]
is_a: MONDO:0019042 {source="https://clinicalgenome.org/affiliation/40130/"} ! multiple congenital anomalies/dysmorphic syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7976 {source="https://clinicalgenome.org/affiliation/40130/"} ! NR2F2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6666" xsd:anyURI

[Term]
id: MONDO:0800459
name: noxacusis
def: "Noxacusis/pain hyperacusis is characterized by individuals who experience otalgia or pain (e.g., dull ache, burning, sharp, stabbing pain and throbbing pain) in response to everyday sounds. This differs clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis)." [PMID:25104073, PMID:26553995]
synonym: "auditory nociception" EXACT [PMID:25104073, PMID:26553995]
synonym: "noise-induced pain" EXACT [PMID:25104073, PMID:26553995]
synonym: "noxacusis" EXACT [PMID:25104073, PMID:26553995]
synonym: "pain hyperacusis" EXACT [PMID:25104073, PMID:26553995]
is_a: MONDO:0043303 {source="PMID:25104073", source="PMID:26553995"} ! hyperacusis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7643" xsd:anyURI

[Term]
id: MONDO:0800460
name: ASAH1-related disorders
def: "The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts." [https://clinicalgenome.org/affiliation/40060/, PMID:29595935]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ASAH1-related disorders" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/, PMID:29595935]
is_a: MONDO:0019052 {source="PMID:29595935", source="https://clinicalgenome.org/affiliation/40060/"} ! inborn errors of metabolism
intersection_of: OGMS:0000031 ! disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 ! ASAH1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 {source="PMID:29595935", source="https://clinicalgenome.org/affiliation/40060/"} ! ASAH1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800461
name: COL4A1-related disorder
def: "The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia)." [https://clinicalgenome.org/affiliation/40060/, PMID:20301768]
synonym: "COL4A1-related disorders" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/, PMID:20301768]
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
intersection_of: OGMS:0000031 ! disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 ! COL4A1
relationship: excluded_subClassOf MONDO:0005385 {source="PMID:20301768", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="PMID:20301768", source="https://clinicalgenome.org/affiliation/40060/"} ! COL4A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800462
name: FHL1-related myopathy
def: "A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy." [https://clinicalgenome.org/affiliation/40060/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "FHL1-related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/]
is_a: MONDO:0005336 {source="https://clinicalgenome.org/affiliation/40060/"} ! myopathy
intersection_of: MONDO:0005336 ! myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 ! FHL1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="https://clinicalgenome.org/affiliation/40060/"} ! FHL1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800463
name: KIF7-related ciliopathy
def: "A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12." [https://clinicalgenome.org/affiliation/40060/, PMID:21552264, PMID:230301500]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "KIF7-related ciliopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/, PMID:21552264, PMID:230301500]
is_a: MONDO:0005308 {source="PMID:21552264", source="PMID:230301500", source="https://clinicalgenome.org/affiliation/40060/"} ! ciliopathy
intersection_of: MONDO:0005308 ! ciliopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 ! KIF7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 {source="PMID:21552264", source="PMID:230301500", source="https://clinicalgenome.org/affiliation/40060/"} ! KIF7
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800464
name: SQSTM1-related multisystem proteinopathy
def: "A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions." [https://clinicalgenome.org/affiliation/40060/, PMID:33145792]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SQSTM1-related multisystem proteinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/, PMID:33145792]
is_a: MONDO:0021179 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! proteostasis deficiencies
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800465
name: CTSC-related disorder
def: "Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance." [https://clinicalgenome.org/affiliation/40060/, MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CTSC-related disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/]
is_a: MONDO:0019287 {source="https://clinicalgenome.org/affiliation/40060/"} ! ectodermal dysplasia syndrome
intersection_of: OGMS:0000031 ! disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 ! CTSC
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="https://clinicalgenome.org/affiliation/40060/"} ! CTSC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800466
name: disorder of GNAS inactivation
def: "Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC)." [https://clinicalgenome.org/affiliation/40060/, PMID:29072892]
is_a: MONDO:0005151 {source="https://clinicalgenome.org/affiliation/40060/"} ! endocrine system disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800467
name: dyskeratosis congenita and related telomere biology disorder
def: "A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF." [https://clinicalgenome.org/affiliation/40060/, PMID:20301779]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "dyskeratosis congenita and related telomere biology disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/, PMID:20301779]
is_a: MONDO:0015780 {source="PMID:20301779", source="https://clinicalgenome.org/affiliation/40060/"} ! dyskeratosis congenita
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800468
name: SCN4A-related channelopathy
def: "Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis." [https://clinicalgenome.org/affiliation/40060/, MONDO:patterns/disease_series_by_gene, PMID:32849172]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SCN4A-related channelopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/, PMID:32849172]
is_a: MONDO:0019119 {source="PMID:32849172", source="https://clinicalgenome.org/affiliation/40060/"} ! muscular channelopathy
intersection_of: MONDO:0019119 ! muscular channelopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10591 ! SCN4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI

[Term]
id: MONDO:0800469
name: ACD-related telomere biology disorder
def: "A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology." [https://orcid.org/0009-0007-0138-2054, PMID:20301779]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "ACD-related telomeropathy" EXACT [https://orcid.org/0009-0007-0138-2054]
is_a: MONDO:0100137 {source="https://orcid.org/0009-0007-0138-2054"} ! telomere syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25070 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7605" xsd:anyURI

[Term]
id: MONDO:0800470
name: TUBB4A-related neurologic disorder
def: "Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene." [https://orcid.org/0000-0002-0505-2091, PMID:28973395, PMID:35275727]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0024237 {source="PMID:28973395", source="PMID:35275727", source="https://orcid.org/0000-0002-0505-2091"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20774 {source="PMID:28973395", source="PMID:35275727", source="https://orcid.org/0000-0002-0505-2091"} ! TUBB4A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6821" xsd:anyURI

[Term]
id: MONDO:0800472
name: CYP1B1-related glaucoma with or without anterior segment dysgenesis
def: "Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene." [https://clinicalgenome.org/affiliation/40077/, PMID:23767995, PMID:24099281, PMID:9097971]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0000365 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! primary congenital glaucoma
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2597 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! CYP1B1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6783" xsd:anyURI

[Term]
id: MONDO:0800474
name: SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
def: "An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability." [PMID:15800844, PMID:21289259, PMID:25402377]
is_a: MONDO:0020119 {source="PMID:15800844", source="PMID:21289259", source="PMID:25402377"} ! X-linked syndromic intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6705" xsd:anyURI

[Term]
id: MONDO:0800475
name: NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
def: "A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems." [https://clinicalgenome.org/affiliation/40006/]
subset: inferred_rare
subset: rare
synonym: "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40006/]
is_a: MONDO:0001071 {source="https://clinicalgenome.org/affiliation/40006/"} ! intellectual disability
is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder
is_a: MONDO:0700092 {source="https://clinicalgenome.org/affiliation/40006/"} ! neurodevelopmental disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20967 {source="https://clinicalgenome.org/affiliation/40006/"} ! NACC1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6700" xsd:anyURI

[Term]
id: MONDO:0800476
name: HAND2 related congenital heart defect
def: "A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect." [https://clinicalgenome.org/affiliation/40130/]
synonym: "bHLHa26" EXACT [https://clinicalgenome.org/affiliation/40130/]
synonym: "DHAND" EXACT [https://clinicalgenome.org/affiliation/40130/]
synonym: "DHAND2" EXACT [https://clinicalgenome.org/affiliation/40130/]
synonym: "HAND2 related congenital heart defect" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40130/]
synonym: "HAND2-related congenital heart defect" EXACT [https://clinicalgenome.org/affiliation/40130/]
synonym: "Hed" EXACT [https://clinicalgenome.org/affiliation/40130/]
synonym: "HLH transcription factor HAND2" EXACT [https://clinicalgenome.org/affiliation/40130/]
synonym: "Thing2" EXACT [https://clinicalgenome.org/affiliation/40130/]
is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40130/"} ! congenital heart disease
intersection_of: MONDO:0005453 ! congenital heart disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4808 ! HAND2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6667" xsd:anyURI

[Term]
id: MONDO:0800477
name: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
def: "A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features." [https://clinicalgenome.org/affiliation/40006/]
synonym: "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40006/]
is_a: MONDO:0001071 {source="https://clinicalgenome.org/affiliation/40006/"} ! intellectual disability
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18420 {source="https://clinicalgenome.org/affiliation/40006/"} ! SETD2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6599" xsd:anyURI

[Term]
id: MONDO:0800478
name: trigeminal trophic syndrome
def: "A syndrome characterized by an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome." [PMID:37089852]
subset: ordo_disorder {source="Orphanet:664901"}
subset: orphanet_rare {source="Orphanet:664901"}
subset: rare
synonym: "TTS" EXACT ABBREVIATION [PMID:37089852]
xref: MEDGEN:698241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:664901 {source="MONDO:equivalentTo"}
xref: UMLS:C1274928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:698241"}
is_a: MONDO:0002254 {source="PMID:37089852"} ! syndromic disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6559" xsd:anyURI

[Term]
id: MONDO:0800479
name: self-limited neonatal seizures
def: "A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures." [https://orcid.org/0009-0008-4499-6539, https://www.epilepsydiagnosis.org/syndrome/self-limited-neonatal-overview.html]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SeLNE" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/self-limited-neonatal-overview.html]
is_a: MONDO:0100022 {source="https://orcid.org/0009-0008-4499-6539", source="https://www.epilepsydiagnosis.org/syndrome/self-limited-neonatal-overview.html"} ! neonatal/infantile epilepsy syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6554" xsd:anyURI

[Term]
id: MONDO:0800480
name: non-verbal learning disability
def: "A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher)." [https://en.wikipedia.org/wiki/Nonverbal_learning_disorder, https://orcid.org/0000-0002-8134-1207]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "non-verbal learning disorder" EXACT [https://en.wikipedia.org/wiki/Nonverbal_learning_disorder, https://orcid.org/0000-0002-8134-1207]
xref: MEDGEN:752350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2732653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:752350"}
is_a: MONDO:0016225 {source="https://en.wikipedia.org/wiki/Nonverbal_learning_disorder", source="https://orcid.org/0000-0002-8134-1207"} ! specific learning disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6512" xsd:anyURI

[Term]
id: MONDO:0800481
name: oral fibroma
def: "A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts." [https://orcid.org/0000-0002-8134-1207]
xref: MEDGEN:1843431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0948118 {source="MEDGEN:1843431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005167 {source="https://orcid.org/0000-0002-8134-1207"} ! fibroma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6510" xsd:anyURI

[Term]
id: MONDO:0800482
name: head injury
def: "An injury that involves the head." [https://orcid.org/0000-0002-8134-1207]
is_a: MONDO:0021178 {source="https://orcid.org/0000-0002-8134-1207"} ! injury
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6508" xsd:anyURI

[Term]
id: MONDO:0800483
name: SF3B4-related acrofacial dysostosis
def: "A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs." [https://clinicalgenome.org/affiliation/40059/]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "SF3B4-related acrofacial dysostosis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40059/]
is_a: MONDO:0018237 {source="https://clinicalgenome.org/affiliation/40059/"} ! acrofacial dysostosis
intersection_of: MONDO:0018237 ! acrofacial dysostosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10771 ! SF3B4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6760" xsd:anyURI

[Term]
id: MONDO:0800484
name: PRKAG2-related cardiomyopathy
def: "A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells." [https://orcid.org/0009-0007-0138-2054, https://www.clinicalgenome.org/affiliation/40104/, PMID:29298659]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "PRKAG2 cardiac syndrome" EXACT [https://orcid.org/0009-0007-0138-2054, https://www.clinicalgenome.org/affiliation/40104/, PMID:29298659]
synonym: "PRKAG2 cardiomyopathy" EXACT [https://orcid.org/0009-0007-0138-2054, https://www.clinicalgenome.org/affiliation/40104/, PMID:29298659]
synonym: "PRKAG2 syndrome" EXACT [https://orcid.org/0009-0007-0138-2054, https://www.clinicalgenome.org/affiliation/40104/, PMID:29298659]
synonym: "PRKAG2-related cardiomyopathy" EXACT CLINGEN_LABEL [https://orcid.org/0009-0007-0138-2054, https://www.clinicalgenome.org/affiliation/40104/, PMID:29298659]
is_a: MONDO:0005217 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! familial cardiomyopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6446" xsd:anyURI

[Term]
id: MONDO:0800485
name: AKT3-related overgrowth spectrum
def: "Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene." [PMID:28969385]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:0019716 {source="https://clinicalgenome.org/affiliation/50020/"} ! overgrowth syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/393 {source="https://clinicalgenome.org/affiliation/50020/"} ! AKT3
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7599" xsd:anyURI

[Term]
id: MONDO:0800486
name: metabolic bone disorder
def: "A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease." [NCIT:C97045]
xref: MEDGEN:2699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C97045 {source="MONDO:equivalentTo"}
xref: UMLS:C0005944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2699"}
is_a: MONDO:0005381 {source="NCIT:C97045"} ! bone disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7006" xsd:anyURI

[Term]
id: MONDO:0810000
name: choroidal neovascularization
def: "An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss." [https://emedicine.medscape.com/article/1190818-overview]
xref: HP:0011506 {source="MONDO:otherHierarchy"}
xref: MEDGEN:154726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D020256 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"}
xref: UMLS:C0600518 {source="MEDGEN:154726", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="https://emedicine.medscape.com/article/1190818-overview"} ! eye disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5388" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5537" xsd:anyURI

[Term]
id: MONDO:0850001
name: congenital neuronal ceroid lipofuscinosis
def: "Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." [Orphanet:168486]
subset: gard_rare {source="GARD:17031", source="MONDO:GARD"}
subset: rare
xref: GARD:17031 {source="MONDO:GARD"}
xref: MEDGEN:351189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:168486 {source="MONDO:equivalentTo"}
xref: UMLS:C1864670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351189"}
is_a: MONDO:0016295 {source="https://orcid.org/0000-0001-5208-3432"} ! neuronal ceroid lipofuscinosis

[Term]
id: MONDO:0850007
name: syndromic lacrimal system disorder
subset: gard_rare {source="GARD:22083", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:519274"}
subset: rare
xref: GARD:22083 {source="MONDO:GARD"}
xref: MEDGEN:1842875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519274 {source="MONDO:equivalentTo"}
xref: UMLS:C5681383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842875"}
is_a: MONDO:0001854 {source="https://orcid.org/0000-0001-5208-3432"} ! lacrimal apparatus disorder
is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6745" xsd:anyURI

[Term]
id: MONDO:0850008
name: anterior segment developmental abnormality with extraocular manifestations
subset: gard_rare {source="GARD:22084", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:519276"}
subset: rare
xref: GARD:22084 {source="MONDO:GARD"}
xref: MEDGEN:1842782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519276 {source="MONDO:equivalentTo"}
xref: UMLS:C5681394 {source="MEDGEN:1842782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder

[Term]
id: MONDO:0850009
name: syndromic microspherophakia
subset: gard_rare {source="GARD:22093", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:519294"}
subset: rare
xref: GARD:22093 {source="MONDO:GARD"}
xref: MEDGEN:1842434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519294 {source="MONDO:equivalentTo"}
xref: UMLS:C5681371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842434"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0850010
name: congenital optic disk excavation
subset: gard_rare {source="GARD:22112", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:519333"}
subset: rare
xref: GARD:22112 {source="MONDO:GARD"}
xref: MEDGEN:1842935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519333 {source="MONDO:equivalentTo"}
xref: UMLS:C5681348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842935"}
is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder

[Term]
id: MONDO:0850013
name: twin anemia-polycythemia sequence
subset: gard_rare {source="GARD:22445", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617294"}
subset: orphanet_rare {source="Orphanet:617294"}
subset: rare
xref: GARD:22445 {source="MONDO:GARD"}
xref: MEDGEN:1843357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:617294 {source="MONDO:equivalentTo"}
xref: UMLS:C5576360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843357"}
is_a: MONDO:0024575 {source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder

[Term]
id: MONDO:0850014
name: twin-reversed arterial perfusion sequence
subset: gard_rare {source="GARD:22446", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617297"}
subset: orphanet_rare {source="Orphanet:617297"}
subset: rare
xref: GARD:22446 {source="MONDO:GARD"}
xref: MEDGEN:1842726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:617297 {source="MONDO:equivalentTo"}
xref: UMLS:C5575500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842726"}
is_a: MONDO:0024575 {source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder

[Term]
id: MONDO:0850015
name: selective intrauterine growth restriction
subset: gard_rare {source="GARD:22447", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617301"}
subset: orphanet_rare {source="Orphanet:617301"}
subset: rare
xref: GARD:22447 {source="MONDO:GARD"}
xref: MEDGEN:1842731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:617301 {source="MONDO:equivalentTo"}
xref: UMLS:C5681824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842731"}
is_a: MONDO:0024575 {source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder

[Term]
id: MONDO:0850030
name: complete hemimelia
subset: gard_rare {source="GARD:22033", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:498491"}
subset: rare
xref: GARD:22033 {source="MONDO:GARD"}
xref: MEDGEN:1842947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:498491 {source="MONDO:equivalentTo"}
xref: UMLS:C5681243 {source="MEDGEN:1842947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016240 {source="Orphanet:498491", source="https://orcid.org/0000-0001-5208-3432"} ! hemimelia

[Term]
id: MONDO:0850046
name: amniotic fluid embolism
subset: gard_rare {source="GARD:22448", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617304"}
subset: orphanet_rare {source="Orphanet:617304"}
subset: rare
xref: GARD:22448 {source="MONDO:GARD"}
xref: icd11.foundation:1017418792 {source="MONDO:equivalentTo", source="Orphanet:617304"}
xref: MEDGEN:8586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:617304 {source="MONDO:equivalentTo"}
xref: UMLS:C0013927 {source="MEDGEN:8586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0024575 {source="Orphanet:617304", source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder

[Term]
id: MONDO:0850048
name: classic eosinophilic pustular folliculitis
subset: gard_rare {source="GARD:22452", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617408"}
subset: orphanet_rare {source="Orphanet:617408"}
subset: rare
xref: GARD:22452 {source="MONDO:GARD"}
xref: Orphanet:617408 {source="MONDO:equivalentTo"}
is_a: MONDO:0023076 {source="Orphanet:617408", source="https://orcid.org/0000-0001-5208-3432"} ! eosinophilic pustular folliculitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0850049
name: painful legs and moving toes syndrome
subset: gard_rare {source="GARD:12706", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617440"}
subset: orphanet_rare {source="Orphanet:617440"}
subset: rare
xref: GARD:12706 {source="MONDO:GARD"}
xref: MEDGEN:1842291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:617440 {source="MONDO:equivalentTo"}
xref: UMLS:C5680388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842291"}
is_a: MONDO:0002254 {source="Orphanet:617440", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0850050
name: congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
subset: gard_rare {source="GARD:22453", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:617449"}
subset: orphanet_rare {source="Orphanet:617449"}
subset: rare
xref: GARD:22453 {source="MONDO:GARD"}
xref: MEDGEN:1842244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:617449 {source="MONDO:equivalentTo"}
xref: UMLS:C5681820 {source="MONDO:equivalentTo", source="MEDGEN:1842244", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:617449", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0850053
name: F12-associated cold autoinflammatory syndrome
subset: gard_rare {source="GARD:22454", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:617919"}
subset: orphanet_rare {source="Orphanet:617919"}
subset: rare
xref: GARD:22454 {source="MONDO:GARD"}
xref: MEDGEN:1843368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:617919 {source="MONDO:equivalentTo"}
xref: UMLS:C5681829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843368"}
is_a: MONDO:0019751 {source="Orphanet:617919", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome

[Term]
id: MONDO:0850054
name: hemophilia B leyden
subset: gard_rare {source="GARD:22455", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:617930"}
subset: rare
xref: GARD:22455 {source="MONDO:GARD"}
xref: Orphanet:617930 {source="MONDO:equivalentTo"}
is_a: MONDO:0002243 {source="Orphanet:617930", source="https://orcid.org/0000-0001-5208-3432"} ! hemorrhagic disease

[Term]
id: MONDO:0850058
name: chronic neurovisceral acid sphingomyelinase deficiency
subset: gard_rare {source="GARD:22456", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:618891"}
subset: orphanet_rare {source="Orphanet:618891"}
subset: rare
xref: GARD:22456 {source="MONDO:GARD"}
xref: MEDGEN:1842316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:618891 {source="MONDO:equivalentTo"}
xref: UMLS:C5539139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842316"}
is_a: MONDO:0001982 {source="Orphanet:618891", source="https://orcid.org/0000-0001-5208-3432"} ! Niemann-Pick disease

[Term]
id: MONDO:0850059
name: hereditary persistence of fetal hemoglobin-intellectual disability syndrome
subset: gard_rare {source="GARD:22458", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:619233"}
subset: orphanet_rare {source="Orphanet:619233"}
subset: rare
xref: GARD:22458 {source="MONDO:GARD"}
xref: Orphanet:619233 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="Orphanet:619233", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0850064
name: inherited hematologic cancer-predisposing syndrome
subset: gard_rare {source="GARD:22461", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:619340"}
subset: rare
xref: GARD:22461 {source="MONDO:GARD"}
xref: MEDGEN:1842853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:619340 {source="MONDO:equivalentTo"}
xref: UMLS:C5681832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842853"}
is_a: MONDO:0015356 {source="Orphanet:619340", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome

[Term]
id: MONDO:0850065
name: neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
subset: gard_rare {source="GARD:22462", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:619363"}
subset: orphanet_rare {source="Orphanet:619363"}
subset: rare
xref: GARD:22462 {source="MONDO:GARD"}
xref: MEDGEN:1843000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:619363 {source="MONDO:equivalentTo"}
xref: UMLS:C5680418 {source="MEDGEN:1843000", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019751 {source="Orphanet:619363", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome

[Term]
id: MONDO:0850066
name: SAMD9L-associated autoinflammatory syndrome
subset: gard_rare {source="GARD:22463", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:619367"}
subset: orphanet_rare {source="Orphanet:619367"}
subset: rare
xref: GARD:22463 {source="MONDO:GARD"}
xref: MEDGEN:1842521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:619367 {source="MONDO:equivalentTo"}
xref: UMLS:C5680414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842521"}
is_a: MONDO:0019751 {source="Orphanet:619367", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome

[Term]
id: MONDO:0850067
name: immune deficiency due to impaired neutrophil phagocytosis and migration
subset: gard_rare {source="GARD:22464", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:619941"}
subset: orphanet_rare {source="Orphanet:619941"}
subset: rare
xref: GARD:22464 {source="MONDO:GARD"}
xref: MEDGEN:1843340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:619941 {source="MONDO:equivalentTo"}
xref: UMLS:C5680413 {source="MEDGEN:1843340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0009453 {source="Orphanet:619941", source="https://orcid.org/0000-0001-5208-3432"} ! immune deficiency disease

[Term]
id: MONDO:0850068
name: early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
subset: gard_rare {source="GARD:22465", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:619948"}
subset: orphanet_rare {source="Orphanet:619948"}
subset: rare
xref: GARD:22465 {source="MONDO:GARD"}
xref: MEDGEN:1842754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:619948 {source="MONDO:equivalentTo"}
xref: UMLS:C5680416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842754"}
is_a: MONDO:0005046 {source="Orphanet:619948", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder

[Term]
id: MONDO:0850069
name: familial hyperinflammatory lymphoproliferative immunodeficiency
subset: gard_rare {source="GARD:22466", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:619953"}
subset: orphanet_rare {source="Orphanet:619953"}
subset: rare
xref: GARD:22466 {source="MONDO:GARD"}
xref: MEDGEN:1842618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:619953 {source="MONDO:equivalentTo"}
xref: UMLS:C5680415 {source="MEDGEN:1842618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020083 {source="Orphanet:619953", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency-associated lymphoproliferative disease

[Term]
id: MONDO:0850070
name: CADINS disease
subset: gard_rare {source="GARD:22467", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:619972"}
subset: orphanet_rare {source="Orphanet:619972"}
subset: rare
xref: GARD:22467 {source="MONDO:GARD"}
xref: MEDGEN:1842902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:619972 {source="MONDO:equivalentTo"}
xref: UMLS:C5680417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842902"}
is_a: MONDO:0005046 {source="Orphanet:619972", source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder

[Term]
id: MONDO:0850071
name: developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
subset: gard_rare {source="GARD:22468", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:619979"}
subset: orphanet_rare {source="Orphanet:619979"}
subset: rare
xref: GARD:22468 {source="MONDO:GARD"}
xref: MEDGEN:1842938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:619979 {source="MONDO:equivalentTo"}
xref: UMLS:C5681830 {source="MEDGEN:1842938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:619979", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0850072
name: non-syndromic unisutural craniosynostosis
subset: gard_rare {source="GARD:22469", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:620096"}
subset: rare
xref: GARD:22469 {source="MONDO:GARD"}
xref: MEDGEN:1843281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620096 {source="MONDO:equivalentTo"}
xref: UMLS:C5680403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843281"}
is_a: MONDO:0015337 {source="Orphanet:620096", source="https://orcid.org/0000-0001-5208-3432"} ! isolated craniosynostosis
is_a: MONDO:0015469 {source="PMID:29924758", source="https://orcid.org/0009-0001-6494-4831"} ! craniosynostosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0850073
name: non-syndromic unicoronal craniosynostosis
subset: gard_rare {source="GARD:22470", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620102"}
subset: orphanet_rare {source="Orphanet:620102"}
subset: rare
xref: GARD:22470 {source="MONDO:GARD"}
xref: MEDGEN:1842408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620102 {source="MONDO:equivalentTo"}
xref: UMLS:C5680401 {source="MEDGEN:1842408", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="Orphanet:620102", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850074
name: non-syndromic unilambdoid craniosynostosis
subset: gard_rare {source="GARD:22471", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620113"}
subset: orphanet_rare {source="Orphanet:620113"}
subset: rare
xref: GARD:22471 {source="MONDO:GARD"}
xref: MEDGEN:1842908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620113 {source="MONDO:equivalentTo"}
xref: UMLS:C5680402 {source="MEDGEN:1842908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="Orphanet:620113", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850075
name: non-syndromic unifrontosphenoidal craniosynostosis
subset: gard_rare {source="GARD:22472", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620139"}
subset: orphanet_rare {source="Orphanet:620139"}
subset: rare
xref: GARD:22472 {source="MONDO:GARD"}
xref: MEDGEN:1843063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620139 {source="MONDO:equivalentTo"}
xref: UMLS:C5680399 {source="MEDGEN:1843063", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="Orphanet:620139", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850076
name: non-syndromic unisquamosal craniosynostosis
subset: gard_rare {source="GARD:22473", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620146"}
subset: orphanet_rare {source="Orphanet:620146"}
subset: rare
xref: GARD:22473 {source="MONDO:GARD"}
xref: MEDGEN:1843002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620146 {source="MONDO:equivalentTo"}
xref: UMLS:C5680400 {source="MEDGEN:1843002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="Orphanet:620146", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850077
name: non-syndromic multisutural craniosynostosis
subset: gard_rare {source="GARD:22474", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:620152"}
subset: rare
xref: GARD:22474 {source="MONDO:GARD"}
xref: MEDGEN:1843294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620152 {source="MONDO:equivalentTo"}
xref: UMLS:C5680397 {source="MEDGEN:1843294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="Orphanet:620152", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850078
name: non-syndromic non-specific multisutural craniosynostosis
subset: gard_rare {source="GARD:22475", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620158"}
subset: orphanet_rare {source="Orphanet:620158"}
subset: rare
xref: GARD:22475 {source="MONDO:GARD"}
xref: MEDGEN:1842261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620158 {source="MONDO:equivalentTo"}
xref: UMLS:C5680398 {source="MEDGEN:1842261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="Orphanet:620158", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850079
name: non-syndromic bilambdoid craniosynostosis
subset: gard_rare {source="GARD:22476", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620178"}
subset: orphanet_rare {source="Orphanet:620178"}
subset: rare
xref: GARD:22476 {source="MONDO:GARD"}
xref: MEDGEN:1842897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620178 {source="MONDO:equivalentTo"}
xref: UMLS:C5680395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842897"}
is_a: MONDO:0015469 {source="Orphanet:620178", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850080
name: non-syndromic unicoronal and sagittal craniosynostosis
subset: gard_rare {source="GARD:22477", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620186"}
subset: orphanet_rare {source="Orphanet:620186"}
subset: rare
xref: GARD:22477 {source="MONDO:GARD"}
xref: MEDGEN:1842804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620186 {source="MONDO:equivalentTo"}
xref: UMLS:C5680396 {source="MEDGEN:1842804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="Orphanet:620186", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850081
name: non-syndromic metopic and sagittal craniosynostosis
subset: gard_rare {source="GARD:22478", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620192"}
subset: orphanet_rare {source="Orphanet:620192"}
subset: rare
xref: GARD:22478 {source="MONDO:GARD"}
xref: MEDGEN:1842791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620192 {source="MONDO:equivalentTo"}
xref: UMLS:C5680393 {source="MEDGEN:1842791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015469 {source="Orphanet:620192", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850082
name: non-syndromic bicoronal and metopic craniosynostosis
subset: gard_rare {source="GARD:22479", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620198"}
subset: orphanet_rare {source="Orphanet:620198"}
subset: rare
xref: GARD:22479 {source="MONDO:GARD"}
xref: MEDGEN:1843005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620198 {source="MONDO:equivalentTo"}
xref: UMLS:C5680394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843005"}
is_a: MONDO:0015469 {source="Orphanet:620198", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850083
name: non-syndromic bicoronal and sagittal craniosynostosis
subset: gard_rare {source="GARD:22480", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620205"}
subset: orphanet_rare {source="Orphanet:620205"}
subset: rare
xref: GARD:22480 {source="MONDO:GARD"}
xref: MEDGEN:1842401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620205 {source="MONDO:equivalentTo"}
xref: UMLS:C5680391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842401"}
is_a: MONDO:0015469 {source="Orphanet:620205", source="https://orcid.org/0000-0001-5208-3432"} ! craniosynostosis

[Term]
id: MONDO:0850084
name: non-syndromic pansynostosis
subset: gard_rare {source="GARD:22481", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620212"}
subset: orphanet_rare {source="Orphanet:620212"}
subset: rare
xref: GARD:22481 {source="MONDO:GARD"}
xref: MEDGEN:1843220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620212 {source="MONDO:equivalentTo"}
xref: UMLS:C5680392 {source="MEDGEN:1843220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0001411 {source="Orphanet:620212", source="https://orcid.org/0000-0001-5208-3432"} ! synostosis

[Term]
id: MONDO:0850087
name: primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
subset: gard_rare {source="GARD:22484", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:620363"}
subset: orphanet_rare {source="Orphanet:620363"}
subset: rare
xref: GARD:22484 {source="MONDO:GARD"}
xref: MEDGEN:1842330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620363 {source="MONDO:equivalentTo"}
xref: UMLS:C5681826 {source="MEDGEN:1842330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="Orphanet:620363", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0850088
name: EGF-related primary hypomagnesemia with intellectual disability
subset: gard_rare {source="GARD:22485", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:620368"}
subset: orphanet_rare {source="Orphanet:620368"}
subset: rare
xref: GARD:22485 {source="MONDO:GARD"}
xref: MEDGEN:1843381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620368 {source="MONDO:equivalentTo"}
xref: UMLS:C5681825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843381"}
is_a: MONDO:0018100 {source="Orphanet:620368", source="https://orcid.org/0000-0001-5208-3432"} ! familial primary hypomagnesemia

[Term]
id: MONDO:0850089
name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
subset: gard_rare {source="GARD:22486", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:620371"}
subset: orphanet_rare {source="Orphanet:620371"}
subset: rare
xref: GARD:22486 {source="MONDO:GARD"}
xref: MEDGEN:1843117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:620371 {source="MONDO:equivalentTo"}
xref: UMLS:C5680390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843117"}
is_a: MONDO:0005240 {source="Orphanet:620371", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder
is_a: MONDO:0100191 {source="https://orcid.org/0000-0002-0736-9199"} ! inherited kidney disorder

[Term]
id: MONDO:0850090
name: fibrosis-neurodegeneration-cerebral angiomatosis syndrome
subset: gard_rare {source="GARD:22487", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:621758"}
subset: orphanet_rare {source="Orphanet:621758"}
subset: rare
xref: GARD:22487 {source="MONDO:GARD"}
xref: Orphanet:621758 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="Orphanet:621758", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0850092
name: post-cardiac arrest syndrome
xref: DOID:0070306 {source="MONDO:equivalentTo"}
xref: MEDGEN:1672555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4285706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672555"}
is_a: MONDO:0002254 {source="DOID:0070306"} ! syndromic disease

[Term]
id: MONDO:0850093
name: absence epilepsy
subset: otar {source="MONDO:OTAR"}
xref: DOID:0070309 {source="MONDO:equivalentTo"}
xref: MEDGEN:4989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0014553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4989"}
is_a: MONDO:0000411 {source="DOID:0070309"} ! electroclinical syndrome

[Term]
id: MONDO:0850094
name: drug-induced hearing loss
xref: DOID:0070310 {source="MONDO:equivalentTo"}
is_a: MONDO:0005365 {source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss disorder
relationship: excluded_subClassOf MONDO:0019497 {source="DOID:0070310", source="https://orcid.org/0000-0001-5208-3432"} ! nonsyndromic genetic hearing loss

[Term]
id: MONDO:0850095
name: X-linked severe syndromic thoracic aortic aneurysm and dissection
subset: gard_rare {source="GARD:22490", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:622925"}
subset: orphanet_rare {source="Orphanet:622925"}
subset: rare
xref: GARD:22490 {source="MONDO:GARD"}
xref: Orphanet:622925 {source="MONDO:equivalentTo"}
is_a: MONDO:0005561 {source="Orphanet:622925", source="https://orcid.org/0000-0001-5208-3432"} ! aortic disorder

[Term]
id: MONDO:0850096
name: SBDS-related severe neonatal spondylometaphyseal dysplasia
subset: gard_rare {source="GARD:22491", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:622934"}
subset: orphanet_rare {source="Orphanet:622934"}
subset: rare
xref: GARD:22491 {source="MONDO:GARD"}
xref: MEDGEN:1843152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:622934 {source="MONDO:equivalentTo"}
xref: UMLS:C5680412 {source="MEDGEN:1843152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016763 {source="Orphanet:622934", source="https://orcid.org/0000-0001-5208-3432"} ! spondylometaphyseal dysplasia

[Term]
id: MONDO:0850097
name: autoimmune limbic encephalitis
def: "A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid." []
subset: gard_rare {source="GARD:22492", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:623615"}
subset: orphanet_rare {source="Orphanet:623615"}
subset: rare
xref: GARD:22492 {source="MONDO:GARD"}
xref: MEDGEN:419645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:623615 {source="MONDO:equivalentTo"}
xref: UMLS:C2930824 {source="MEDGEN:419645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015588 {source="Orphanet:623615", source="https://orcid.org/0000-0001-5208-3432"} ! limbic encephalitis
is_a: MONDO:0020640 {source="Orphanet:623615", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune encephalitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0850098
name: oligoasthenoteratozoospermia
def: "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility." [DOID:0070311]
xref: DOID:0070311 {source="MONDO:equivalentTo"}
is_a: MONDO:0005372 {source="DOID:0070311"} ! male infertility

[Term]
id: MONDO:0850099
name: MIR140-related spondyloepiphyseal dysplasia
subset: gard_rare {source="GARD:22495", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:623695"}
subset: orphanet_rare {source="Orphanet:623695"}
subset: rare
xref: GARD:22495 {source="MONDO:GARD"}
xref: MEDGEN:1842455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:623695 {source="MONDO:equivalentTo"}
xref: UMLS:C5680411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842455"}
is_a: MONDO:0016761 {source="Orphanet:623695", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia

[Term]
id: MONDO:0850100
name: body integrity dysphoria
subset: gard_rare {source="GARD:22496", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:623789"}
subset: orphanet_rare {source="Orphanet:623789"}
subset: rare
xref: GARD:22496 {source="MONDO:GARD"}
xref: icd11.foundation:256572629 {source="Orphanet:623789", source="MONDO:equivalentTo"}
xref: MEDGEN:1626910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:623789 {source="MONDO:equivalentTo"}
xref: UMLS:C4546282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1626910"}
is_a: MONDO:0002025 {source="Orphanet:623789", source="https://orcid.org/0000-0001-5208-3432"} ! psychiatric disorder

[Term]
id: MONDO:0850101
name: spitzoid melanoma
xref: DOID:0070326 {source="MONDO:equivalentTo"}
xref: MEDGEN:1713307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3495721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713307"}
is_a: MONDO:0005012 ! cutaneous melanoma

[Term]
id: MONDO:0850102
name: non-specific autoimmune supratentorial encephalitis with characteristic antibodies
subset: gard_rare {source="GARD:22497", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:624166"}
subset: orphanet_rare {source="Orphanet:624166"}
subset: rare
xref: GARD:22497 {source="MONDO:GARD"}
xref: MEDGEN:1842219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:624166 {source="MONDO:equivalentTo"}
xref: UMLS:C5680408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842219"}
is_a: MONDO:0007179 {source="Orphanet:624166", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease

[Term]
id: MONDO:0850103
name: non-specific autoimmune supratentorial encephalitis without characteristic antibodies
subset: gard_rare {source="GARD:22498", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:624178"}
subset: orphanet_rare {source="Orphanet:624178"}
subset: rare
xref: GARD:22498 {source="MONDO:GARD"}
xref: MEDGEN:1843156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:624178 {source="MONDO:equivalentTo"}
xref: UMLS:C5680409 {source="MEDGEN:1843156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="Orphanet:624178", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease

[Term]
id: MONDO:0850104
name: paraneoplastic isolated brainstem encephalitis
subset: gard_rare {source="GARD:22499", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:624190"}
subset: orphanet_rare {source="Orphanet:624190"}
subset: rare
xref: GARD:22499 {source="MONDO:GARD"}
xref: MEDGEN:1842767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:624190 {source="MONDO:equivalentTo"}
xref: UMLS:C5680406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842767"}
is_a: MONDO:0019956 {source="Orphanet:624190", source="https://orcid.org/0000-0001-5208-3432"} ! encephalitis

[Term]
id: MONDO:0850105
name: non-specific autoimmune brainstem encephalitis with characteristic antibodies
subset: gard_rare {source="GARD:22500", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:624199"}
subset: orphanet_rare {source="Orphanet:624199"}
subset: rare
xref: GARD:22500 {source="MONDO:GARD"}
xref: MEDGEN:1842903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:624199 {source="MONDO:equivalentTo"}
xref: UMLS:C5680405 {source="MEDGEN:1842903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="Orphanet:624199", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease

[Term]
id: MONDO:0850106
name: non-specific autoimmune brainstem encephalitis without characteristic antibodies
subset: gard_rare {source="GARD:22501", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:624216"}
subset: orphanet_rare {source="Orphanet:624216"}
subset: rare
xref: GARD:22501 {source="MONDO:GARD"}
xref: MEDGEN:1843231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:624216 {source="MONDO:equivalentTo"}
xref: UMLS:C5680407 {source="MEDGEN:1843231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="Orphanet:624216", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease

[Term]
id: MONDO:0850107
name: postinfectious cerebellitis
subset: gard_rare {source="GARD:22502", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:624244"}
subset: orphanet_rare {source="Orphanet:624244"}
subset: rare
xref: GARD:22502 {source="MONDO:GARD"}
xref: MEDGEN:1843009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:624244 {source="MONDO:equivalentTo"}
xref: UMLS:C5575321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843009"}
is_a: MONDO:0020010 {source="Orphanet:624244", source="https://orcid.org/0000-0001-5208-3432"} ! infectious disorder of the nervous system

[Term]
id: MONDO:0850108
name: non-specific autoimmune cerebellar ataxia with characteristic antibodies
subset: gard_rare {source="GARD:22503", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:624259"}
subset: orphanet_rare {source="Orphanet:624259"}
subset: rare
xref: GARD:22503 {source="MONDO:GARD"}
xref: MEDGEN:1842300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:624259 {source="MONDO:equivalentTo"}
xref: UMLS:C5680404 {source="MEDGEN:1842300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="Orphanet:624259", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease

[Term]
id: MONDO:0850109
name: non-specific autoimmune cerebellar ataxia without characteristic antibodies
subset: gard_rare {source="GARD:22504", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:624268"}
subset: orphanet_rare {source="Orphanet:624268"}
subset: rare
xref: GARD:22504 {source="MONDO:GARD"}
xref: MEDGEN:1843044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:624268 {source="MONDO:equivalentTo"}
xref: UMLS:C5576703 {source="MEDGEN:1843044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007179 {source="Orphanet:624268", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease

[Term]
id: MONDO:0850110
name: melanoma in congenital melanocytic nevus
xref: DOID:0070327 {source="MONDO:equivalentTo"}
xref: MEDGEN:313976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1711221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313976"}
is_a: MONDO:0005012 ! cutaneous melanoma

[Term]
id: MONDO:0850112
name: breast implant-associated anaplastic large cell lymphoma
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:667662"}
subset: orphanet_rare {source="Orphanet:667662"}
subset: rare
xref: DOID:0070333 {source="MONDO:equivalentTo"}
xref: MEDGEN:1611347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:667662 {source="MONDO:equivalentTo"}
xref: UMLS:C4528210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1611347"}
is_a: MONDO:0000430 {source="DOID:0070333"} ! mature T-cell and NK-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0850115
name: early-onset obesity-hyperphagia-severe developmental delay syndrome
subset: gard_rare {source="GARD:19685", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:99704"}
subset: orphanet_rare {source="Orphanet:99704"}
subset: rare
xref: GARD:19685 {source="MONDO:GARD"}
xref: Orphanet:99704 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="Orphanet:99704", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0850122
name: solid adenocarcinoma with mucin production
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080306 {source="MONDO:equivalentTo"}
is_a: MONDO:0005061 {source="DOID:0080306"} ! lung adenocarcinoma

[Term]
id: MONDO:0850123
name: autonomic nervous system benign neoplasm
xref: DOID:0080321 {source="MONDO:equivalentTo"}
is_a: MONDO:0056804 {source="DOID:0080321"} ! benign neoplasm of peripheral nervous system

[Term]
id: MONDO:0850125
name: malignant adenoma
def: "A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer." [DOID:0080364]
xref: DOID:0080364 {source="MONDO:equivalentTo"}
is_a: MONDO:0004992 {source="DOID:0080364"} ! cancer

[Term]
id: MONDO:0850126
name: testicular sex cord-stromal benign neoplasm
def: "A sex cord-stromal benign neoplasm that arises from the testis." [DOID:0080371]
subset: inferred_rare
subset: rare
xref: DOID:0080371 {source="MONDO:equivalentTo"}
is_a: MONDO:0003125 {source="DOID:0080371", source="https://orcid.org/0000-0002-4142-7153"} ! testicular sex cord-stromal neoplasm

[Term]
id: MONDO:0850127
name: epithelioid inflammatory myofibroblastic sarcoma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080372 {source="MONDO:equivalentTo"}
is_a: MONDO:0015798 {source="DOID:0080372"} ! inflammatory myofibroblastic tumor

[Term]
id: MONDO:0850128
name: epididymis disease
def: "A male reproductive system disease that is located in the epididymis." [DOID:0080373]
xref: DOID:0080373 {source="MONDO:equivalentTo"}
is_a: MONDO:0003150 {source="DOID:0080373"} ! male reproductive system disorder

[Term]
id: MONDO:0850129
name: gastroesophageal cancer
def: "A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach." [DOID:0080374]
xref: DOID:0080374 {source="MONDO:equivalentTo"}
xref: MEDGEN:577508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0346619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:577508"}
is_a: MONDO:0002516 {source="DOID:0080374"} ! digestive system cancer

[Term]
id: MONDO:0850130
name: gastroesophageal adenocarcinoma
xref: DOID:0080375 {source="MONDO:equivalentTo"}
is_a: MONDO:0004970 {source="https://orcid.org/0000-0001-5208-3432"} ! adenocarcinoma

[Term]
id: MONDO:0850144
name: germ cell benign neoplasm
def: "A benign neoplasm that derives from germ cells." [DOID:0080601]
subset: inferred_rare
subset: rare
xref: DOID:0080601 {source="MONDO:equivalentTo"}
xref: MEDGEN:272358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1332505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272358"}
is_a: MONDO:0005040 {source="https://orcid.org/0000-0002-4142-7153"} ! germ cell tumor
is_a: MONDO:0005165 {source="DOID:0080601"} ! benign neoplasm

[Term]
id: MONDO:0850149
name: nephroma
def: "A kidney benign neoplasm that is located in the kidney cortex." [DOID:0080615]
xref: DOID:0080615 {source="MONDO:equivalentTo"}
is_a: MONDO:0002513 {source="DOID:0080615"} ! kidney benign neoplasm

[Term]
id: MONDO:0850150
name: kidney cortex disease
def: "A kidney disease that is located in the kidney cortex." [DOID:0080616]
xref: DOID:0080616 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="DOID:0080616"} ! kidney disorder

[Term]
id: MONDO:0850151
name: lymph node carcinoma
def: "A lymph node cancer that has material basis in abnormally proliferating cells derives from epithelial cells." [DOID:0080618]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080618 {source="MONDO:equivalentTo"}
is_a: MONDO:0001082 {source="DOID:0080618"} ! lymph node cancer
is_a: MONDO:0004993 {source="DOID:0080618"} ! carcinoma

[Term]
id: MONDO:0850152
name: auditory system benign neoplasm
def: "A sensory system benign neoplasm that is located in the auditory system." [DOID:0080619]
xref: DOID:0080619 {source="MONDO:equivalentTo"}
is_a: MONDO:0000633 {source="DOID:0080619"} ! sensory organ benign neoplasm
is_a: MONDO:0002409 {source="DOID:0080619"} ! auditory system disorder

[Term]
id: MONDO:0850154
name: tongue carcinoma
xref: DOID:0080641 {source="MONDO:equivalentTo"}
xref: MEDGEN:154320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0558353 {source="MONDO:equivalentTo", source="MEDGEN:154320", source="MONDO:MEDGEN"}
is_a: MONDO:0004631 ! tongue cancer
is_a: MONDO:0004993 {source="https://orcid.org/0000-0001-5208-3432"} ! carcinoma

[Term]
id: MONDO:0850156
name: B-lymphoblastic leukemia/lymphoma MLL rearranged
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein." [DOID:0080644]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080644 {source="MONDO:equivalentTo"}
is_a: MONDO:0004947 {source="DOID:0080644"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0850157
name: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein." [DOID:0080645]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080645 {source="MONDO:equivalentTo"}
is_a: MONDO:0004947 {source="DOID:0080645"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0850160
name: B-lymphoblastic leukemia/lymphoma with IL3-IGH
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3)." [DOID:0080648]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080648 {source="MONDO:equivalentTo"}
is_a: MONDO:0004947 {source="DOID:0080648"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0850161
name: B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like
def: "A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion." [DOID:0080650]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080650 {source="MONDO:equivalentTo"}
is_a: MONDO:0004947 {source="DOID:0080650"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0850162
name: B-lymphoblastic leukemia/lymphoma with IAMP21
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21." [DOID:0080651]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080651 {source="MONDO:equivalentTo"}
is_a: MONDO:0004947 {source="DOID:0080651"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0850170
name: spinal muscular atrophy type 0
def: "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles." [DOID:0080667]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080667 {source="MONDO:equivalentTo"}
xref: MEDGEN:1843403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4324643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843403"}
is_a: MONDO:0001516 {source="https://orcid.org/0000-0002-4142-7153"} ! spinal muscular atrophy
relationship: excluded_subClassOf MONDO:0009669 {source="DOID:0080667", source="https://orcid.org/0000-0001-5208-3432"} ! spinal muscular atrophy, type 1

[Term]
id: MONDO:0850196
name: medulloblastoma WNT activated
def: "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent." [DOID:0080702]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080702 {source="MONDO:equivalentTo"}
xref: MEDGEN:1392356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4331965 {source="MEDGEN:1392356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007959 {source="DOID:0080702"} ! medulloblastoma

[Term]
id: MONDO:0850197
name: medulloblastoma SHH activated
def: "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent." [DOID:0080703]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080703 {source="MONDO:equivalentTo"}
xref: MEDGEN:1375478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4330671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1375478"}
is_a: MONDO:0007959 {source="DOID:0080703"} ! medulloblastoma

[Term]
id: MONDO:0850198
name: medulloblastoma non-WNT/non-SHH
def: "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent." [DOID:0080706]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080706 {source="MONDO:equivalentTo"}
xref: MEDGEN:1387799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4330667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387799"}
is_a: MONDO:0007959 {source="DOID:0080706"} ! medulloblastoma

[Term]
id: MONDO:0850199
name: NK cell deficiency
def: "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood." [DOID:0080709]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080709 {source="MONDO:equivalentTo"}
xref: MEDGEN:1644714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4693357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644714"}
is_a: MONDO:0003778 {source="DOID:0080709"} ! inborn error of immunity

[Term]
id: MONDO:0850200
name: T cell and NK cell immunodeficiency
def: "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency." [DOID:0080710]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080710 {source="MONDO:equivalentTo"}
is_a: MONDO:0003778 {source="DOID:0080710"} ! inborn error of immunity

[Term]
id: MONDO:0850201
name: hereditary alpha tryptasemia syndrome
xref: DOID:0080714 {source="MONDO:equivalentTo"}
xref: MEDGEN:1797172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5565749 {source="MEDGEN:1797172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="DOID:0080714"} ! syndromic disease

[Term]
id: MONDO:0850223
name: Libman-Sacks endocarditis
def: "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease." [DOID:0080740]
xref: DOID:0080740 {source="MONDO:equivalentTo"}
xref: MEDGEN:69175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0242380 {source="MEDGEN:69175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000603 {source="DOID:0080740"} ! autoimmune disorder of cardiovascular system
is_a: MONDO:0005025 {source="DOID:0080740"} ! endocarditis

[Term]
id: MONDO:0850225
name: autoimmune cholangitis
def: "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera." [DOID:0080742]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080742 {source="MONDO:equivalentTo"}
xref: MEDGEN:881331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4075851 {source="MEDGEN:881331", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004789 {source="https://orcid.org/0000-0002-4142-7153"} ! cholangitis
is_a: MONDO:0016264 {source="DOID:0080742"} ! autoimmune hepatitis

[Term]
id: MONDO:0850230
name: chronic urticaria
def: "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week." [DOID:0080747]
xref: DOID:0080747 {source="MONDO:equivalentTo"}
xref: MEDGEN:537829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0263338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:537829"}
is_a: MONDO:0005492 {source="DOID:0080747"} ! urticaria

[Term]
id: MONDO:0850231
name: erythema nodosum
def: "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter." [DOID:0080750]
xref: DOID:0080750 {source="MONDO:equivalentTo"}
xref: MEDGEN:41858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0014743 {source="MEDGEN:41858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006591 {source="DOID:0080750"} ! panniculitis

[Term]
id: MONDO:0850257
name: mucinous pancreas adenocarcinoma
def: "A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin." [DOID:0080782]
xref: DOID:0080782 {source="MONDO:equivalentTo"}
is_a: MONDO:0004957 {source="DOID:0080782"} ! mucinous adenocarcinoma
is_a: MONDO:0006047 {source="DOID:0080782"} ! pancreatic adenocarcinoma

[Term]
id: MONDO:0850267
name: childhood acute megakaryoblastic leukemia
def: "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood." [DOID:0080794]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080794 {source="MONDO:equivalentTo"}
xref: MEDGEN:79023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0279650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79023"}
is_a: MONDO:0018872 {source="DOID:0080794"} ! acute megakaryoblastic leukemia

[Term]
id: MONDO:0850269
name: core binding factor acute myeloid leukemia
def: "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis." [DOID:0080796]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080796 {source="MONDO:equivalentTo"}
xref: MEDGEN:825586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3839741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:825586"}
is_a: MONDO:0018874 {source="DOID:0080796"} ! acute myeloid leukemia

[Term]
id: MONDO:0850271
name: myeloid leukemia associated with down syndrome
def: "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene." [DOID:0080798]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080798 {source="MONDO:equivalentTo"}
xref: MEDGEN:416725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2825149 {source="MONDO:equivalentTo", source="MEDGEN:416725", source="MONDO:MEDGEN"}
is_a: MONDO:0018872 {source="DOID:0080798"} ! acute megakaryoblastic leukemia

[Term]
id: MONDO:0850273
name: salivary gland mucinous adenocarcinoma
def: "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found." [DOID:0080800]
xref: DOID:0080800 {source="MONDO:equivalentTo"}
xref: MEDGEN:364330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1882973 {source="MEDGEN:364330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000521 {source="DOID:0080800"} ! salivary gland carcinoma
is_a: MONDO:0004957 {source="DOID:0080800"} ! mucinous adenocarcinoma

[Term]
id: MONDO:0850281
name: mammary analog secretory carcinoma
def: "A salivary gland carcinoma that has material basis in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene." [DOID:0080808]
xref: DOID:0080808 {source="MONDO:equivalentTo"}
xref: MEDGEN:875770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4042906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:875770"}
is_a: MONDO:0000521 {source="DOID:0080808"} ! salivary gland carcinoma

[Term]
id: MONDO:0850282
name: chronic asthma
def: "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency." [DOID:0080809]
synonym: "adult-onset severe asthma" NARROW [DOID:0080816]
synonym: "persistent mild asthma" NARROW [DOID:0080813]
synonym: "persistent moderate asthma" NARROW [DOID:0080814]
synonym: "persistent severe asthma" NARROW [DOID:0080824]
xref: DOID:0080809 {source="MONDO:equivalentTo"}
xref: DOID:0080813 {source="MONDO:mondoIsBroaderThanSource"}
xref: DOID:0080814 {source="MONDO:mondoIsBroaderThanSource"}
xref: DOID:0080816 {source="MONDO:mondoIsBroaderThanSource"}
xref: DOID:0080824 {source="MONDO:mondoIsBroaderThanSource"}
xref: MEDGEN:1843404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0877430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843404"}
is_a: MONDO:0004979 {source="DOID:0080809"} ! asthma

[Term]
id: MONDO:0850283
name: acute asthma
def: "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment." [DOID:0080810]
xref: DOID:0080810 {source="MONDO:equivalentTo"}
xref: MEDGEN:578946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0349790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:578946"}
is_a: MONDO:0004979 {source="DOID:0080810"} ! asthma

[Term]
id: MONDO:0850284
name: extrinsic asthma
def: "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies." [DOID:0080811]
xref: DOID:0080811 {source="MONDO:equivalentTo"}
is_a: MONDO:0850282 {source="https://orcid.org/0000-0002-4142-7153"} ! chronic asthma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0850285
name: environmental induced asthma
def: "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter." [DOID:0080819]
xref: DOID:0080819 {source="MONDO:equivalentTo"}
is_a: MONDO:0004765 {source="DOID:0080819"} ! intrinsic asthma

[Term]
id: MONDO:0850286
name: exercise-induced bronchoconstriction
def: "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise." [DOID:0080821]
xref: DOID:0080821 {source="MONDO:equivalentTo"}
is_a: MONDO:0004765 {source="DOID:0080821"} ! intrinsic asthma

[Term]
id: MONDO:0850287
name: aspirin-induced respiratory disease
def: "An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs." [DOID:0080822]
xref: DOID:0080822 {source="MONDO:equivalentTo"}
is_a: MONDO:0004765 {source="DOID:0080822"} ! intrinsic asthma

[Term]
id: MONDO:0850289
name: human betaherpesvirus 5 infectious disease
def: "A disease caused by infection with Human betaherpesvirus 5." [DOID:0080827, MONDO:patterns/infectious_disease_by_agent]
synonym: "human cytomegalovirus infection" BROAD [DOID:0080827]
xref: DOID:0080827 {source="MONDO:equivalentTo"}
is_a: MONDO:0005108 {source="DOID:0080827"} ! viral infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:10359 ! Human betaherpesvirus 5

[Term]
id: MONDO:0850292
name: subjective cognitive decline
def: "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints." [DOID:0080831]
xref: DOID:0080831 {source="MONDO:equivalentTo"}
is_a: MONDO:0002039 {source="DOID:0080831"} ! cognitive disorder

[Term]
id: MONDO:0850295
name: acquired laryngomalacia
def: "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures." [DOID:0080834]
xref: DOID:0080834 {source="MONDO:equivalentTo"}
xref: MEDGEN:1762305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5437619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1762305"}
is_a: MONDO:0004382 {source="DOID:0080834"} ! laryngeal disorder
relationship: has_characteristic MONDO:0021141 ! acquired

[Term]
id: MONDO:0850301
name: pemphigoid
def: "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily." [DOID:0080841]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080841 {source="MONDO:equivalentTo"}
xref: SCTID:86142006 {source="MONDO:equivalentTo"}
is_a: MONDO:0019337 {source="DOID:0080841"} ! autoimmune bullous skin disease

[Term]
id: MONDO:0850302
name: intracranial meningioma
def: "A meningioma that arises within the cranial cavity." [DOID:0080842]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "brain meningioma" EXACT [MONDO:0000642]
synonym: "brain meningioma (disease)" EXACT [MONDO:patterns/location]
synonym: "meningioma (disease) of brain" EXACT []
xref: DOID:0060106 {source="MONDO:equivalentTo"}
xref: DOID:0080842 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: MEDGEN:83891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0349604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83891"}
is_a: MONDO:0016642 {source="DOID:0060106", source="DOID:0080842", source="MONDO:Redundant"} ! meningioma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7138" xsd:anyURI

[Term]
id: MONDO:0850303
name: supratentorial meningioma
def: "A meningioma that affects the supratentorial brain." [DOID:0080843]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080843 {source="MONDO:equivalentTo"}
xref: MEDGEN:234913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1336537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234913"}
is_a: MONDO:0016642 {source="DOID:0080843"} ! meningioma

[Term]
id: MONDO:0850306
name: latent autoimmune diabetes in adults
def: "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus." [DOID:0080846]
xref: DOID:0080846 {source="MONDO:equivalentTo"}
xref: MEDGEN:895261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1739108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895261"}
is_a: MONDO:0005147 {source="DOID:0080846"} ! type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0850312
name: anaplastic pleomorphic xanthoastrocytoma
def: "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields." [DOID:0080854]
subset: gard_rare {source="GARD:13624", source="MONDO:GARD"}
subset: rare
xref: DOID:0080854 {source="MONDO:equivalentTo"}
xref: GARD:13624 {source="MONDO:GARD"}
xref: MEDGEN:924393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4283858 {source="MEDGEN:924393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021636 {source="DOID:0080854"} ! astrocytic tumor

[Term]
id: MONDO:0850332
name: IDH-mutant anaplastic astrocytoma
def: "An anaplastic astrocytoma carrying IDH mutations." [DOID:0080875]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080875 {source="MONDO:equivalentTo"}
is_a: MONDO:0016684 {source="DOID:0080875"} ! anaplastic astrocytoma

[Term]
id: MONDO:0850333
name: IDH-wildtype anaplastic astrocytoma
def: "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes." [DOID:0080876]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080876 {source="MONDO:equivalentTo"}
is_a: MONDO:0016684 {source="DOID:0080876"} ! anaplastic astrocytoma

[Term]
id: MONDO:0850335
name: IDH-wildtype glioblastoma
def: "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes." [DOID:0080878]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080878 {source="MONDO:equivalentTo"}
is_a: MONDO:0018177 {source="DOID:0080878"} ! glioblastoma

[Term]
id: MONDO:0850338
name: spinal ependymoma, MYCN-amplified
def: "A spinal cord ependymoma that is characterized by MYCN amplification." [DOID:0080888]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080888 {source="MONDO:equivalentTo"}
xref: MEDGEN:1806198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5670583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806198"}
is_a: MONDO:0003473 {source="DOID:0080888"} ! spinal cord ependymoma

[Term]
id: MONDO:0850339
name: posterior fossa ependymoma
def: "A high grade ependymoma that is located within the posterior fossa." [DOID:0080889]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080889 {source="MONDO:equivalentTo"}
xref: MEDGEN:1811888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5670542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811888"}
is_a: MONDO:0016700 {source="DOID:0080889"} ! anaplastic ependymoma

[Term]
id: MONDO:0850340
name: supratentorial ependymoma
def: "A high grade ependymoma that is located within the supratentorial brain." [DOID:0080890]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080890 {source="MONDO:equivalentTo"}
xref: MEDGEN:1811811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5670470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811811"}
is_a: MONDO:0016700 {source="DOID:0080890"} ! anaplastic ependymoma

[Term]
id: MONDO:0850345
name: lung pleomorphic carcinoma
def: "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located in the lung." [DOID:0080899]
xref: DOID:0080899 {source="MONDO:equivalentTo"}
xref: MEDGEN:314017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1711397 {source="MEDGEN:314017", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003573 {source="DOID:0080899"} ! pleomorphic carcinoma
is_a: MONDO:0008903 {source="DOID:0080899"} ! lung cancer
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0850346
name: oral rhabdomyosarcoma
def: "A rhabdomyosarcoma located in the oral cavity." [DOID:0080900]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080900 {source="MONDO:equivalentTo"}
is_a: MONDO:0005212 {source="DOID:0080900"} ! rhabdomyosarcoma
is_a: MONDO:0005515 {source="DOID:0080900"} ! oral cavity cancer

[Term]
id: MONDO:0850347
name: bladder sarcomatoid transitional cell carcinoma
def: "A sarcomatoid transitional cell carcinoma that is located in the bladder." [DOID:0080901]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080901 {source="MONDO:equivalentTo"}
is_a: MONDO:0001187 {source="DOID:0080901"} ! urinary bladder cancer
is_a: MONDO:0002837 {source="DOID:0080901"} ! sarcomatoid transitional cell carcinoma

[Term]
id: MONDO:0850348
name: bladder small cell carcinoma
def: "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells." [DOID:0080902]
xref: DOID:0080902 {source="MONDO:equivalentTo"}
is_a: MONDO:0004986 {source="DOID:0080902"} ! urinary bladder carcinoma

[Term]
id: MONDO:0850349
name: astroblastoma, MN1-altered
def: "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q." [DOID:0080904]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080904 {source="MONDO:equivalentTo"}
is_a: MONDO:0016707 {source="DOID:0080904"} ! astroblastoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0850353
name: castration-resistant prostate carcinoma
def: "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production." [DOID:0080909]
xref: DOID:0080909 {source="MONDO:equivalentTo"}
xref: MEDGEN:730224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1328504 {source="MEDGEN:730224", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005159 {source="DOID:0080909"} ! prostate carcinoma

[Term]
id: MONDO:0850368
name: immunoglobulin heavy-and-light chain
def: "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils." [DOID:0080935]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080935 {source="MONDO:equivalentTo"}
is_a: MONDO:0019065 {source="DOID:0080935"} ! amyloidosis

[Term]
id: MONDO:0850371
name: nonobstructive coronary artery disease
def: "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent." [DOID:0080938]
xref: DOID:0080938 {source="MONDO:equivalentTo"}
is_a: MONDO:0005010 {source="DOID:0080938"} ! coronary artery disorder

[Term]
id: MONDO:0850388
name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered
def: "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children." [DOID:0080956]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080956 {source="MONDO:equivalentTo"}
xref: MEDGEN:1375924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4316809 {source="MEDGEN:1375924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004378 {source="DOID:0080956"} ! pediatric cerebral ependymoblastoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0850415
name: rhabdomyolysis-myalgia syndrome
def: "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma." [DOID:0080992]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080992 {source="MONDO:equivalentTo"}
is_a: MONDO:0005336 {source="DOID:0080992"} ! myopathy
is_a: MONDO:0100150 {source="https://orcid.org/0000-0002-4142-7153"} ! RYR1-related myopathy

[Term]
id: MONDO:0850416
name: autoimmune epilepsy
def: "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction." [DOID:0080994]
xref: DOID:0080994 {source="MONDO:equivalentTo"}
is_a: MONDO:0000568 {source="DOID:0080994"} ! autoimmune disorder of central nervous system
is_a: MONDO:0005027 {source="DOID:0080994"} ! epilepsy

[Term]
id: MONDO:0850417
name: tuberculous encephalopathy
def: "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state." [DOID:0080995]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080995 {source="MONDO:equivalentTo"}
is_a: MONDO:0018076 {source="DOID:0080995"} ! tuberculosis

[Term]
id: MONDO:0850418
name: diffuse large B-cell lymphoma activated B-cell type
def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes." [DOID:0080996]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080996 {source="MONDO:equivalentTo"}
xref: MEDGEN:272545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1333296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272545"}
is_a: MONDO:0018905 {source="DOID:0080996"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0850419
name: diffuse large B-cell lymphoma germinal center B-cell type
def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification." [DOID:0080997]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080997 {source="MONDO:equivalentTo"}
xref: MEDGEN:234202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1333295 {source="MONDO:equivalentTo", source="MEDGEN:234202", source="MONDO:MEDGEN"}
is_a: MONDO:0018905 {source="DOID:0080997"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0850420
name: acute necrotizing pancreatitis
def: "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems." [DOID:0080998]
xref: DOID:0080998 {source="MONDO:equivalentTo"}
xref: MEDGEN:75645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0267941 {source="MEDGEN:75645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006515 {source="DOID:0080998"} ! acute pancreatitis

[Term]
id: MONDO:0850421
name: acute hemorrhagic pancreatitis
def: "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage." [DOID:0080999]
xref: DOID:0080999 {source="MONDO:equivalentTo"}
xref: MEDGEN:541079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0267940 {source="MEDGEN:541079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006515 {source="DOID:0080999"} ! acute pancreatitis

[Term]
id: MONDO:0850426
name: high-grade B-cell lymphoma double-hit/triple-hit
def: "A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes." [DOID:0081004]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081004 {source="MONDO:equivalentTo"}
is_a: MONDO:0004095 {source="DOID:0081004"} ! B-cell neoplasm

[Term]
id: MONDO:0850445
name: benign peritoneal solitary fibrous tumor
def: "A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels." [DOID:0081026]
xref: DOID:0081026 {source="MONDO:equivalentTo"}
is_a: MONDO:0000650 {source="DOID:0081026"} ! peritoneal benign neoplasm

[Term]
id: MONDO:0850449
name: mixed phenotype acute leukemia with BCR-ABL1
def: "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR." [DOID:0081036]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081036 {source="MONDO:equivalentTo"}
is_a: MONDO:0020322 {source="DOID:0081036"} ! acute biphenotypic leukemia

[Term]
id: MONDO:0850450
name: mixed phenotype acute leukemia with MLL rearranged
def: "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner." [DOID:0081037]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081037 {source="MONDO:equivalentTo"}
is_a: MONDO:0020322 {source="DOID:0081037"} ! acute biphenotypic leukemia

[Term]
id: MONDO:0850451
name: mixed phenotype acute leukemia, B/myeloid
def: "An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation." [DOID:0081038]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081038 {source="MONDO:equivalentTo"}
xref: MEDGEN:501146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3472616 {source="MEDGEN:501146", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020322 {source="DOID:0081038"} ! acute biphenotypic leukemia

[Term]
id: MONDO:0850452
name: mixed phenotype acute leukemia,T/myeloid
def: "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens." [DOID:0081039]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081039 {source="MONDO:equivalentTo"}
is_a: MONDO:0020322 {source="DOID:0081039"} ! acute biphenotypic leukemia

[Term]
id: MONDO:0850459
name: primary cutaneous gamma-delta t-cell lymphoma
def: "A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype." [DOID:0081050]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081050 {source="MONDO:equivalentTo"}
xref: MEDGEN:313069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1707547 {source="MEDGEN:313069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000607 {source="DOID:0081050"} ! primary cutaneous T-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0850461
name: neurobehavioral disorder with prenatal alcohol exposure
def: "A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction." [DOID:0081052]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081052 {source="MONDO:equivalentTo"}
is_a: MONDO:0000408 {source="DOID:0081052"} ! fetal alcohol spectrum disorder

[Term]
id: MONDO:0850468
name: BN2 diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding." [DOID:0081064]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081064 {source="MONDO:equivalentTo"}
xref: MEDGEN:1650982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4725003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1650982"}
is_a: MONDO:0018905 {source="DOID:0081064"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0850469
name: EZB diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding." [DOID:0081065]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081065 {source="MONDO:equivalentTo"}
xref: MEDGEN:1653316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4725006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1653316"}
is_a: MONDO:0018905 {source="DOID:0081065"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0850470
name: MCD diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding." [DOID:0081066]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081066 {source="MONDO:equivalentTo"}
xref: MEDGEN:1669702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4725002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1669702"}
is_a: MONDO:0018905 {source="DOID:0081066"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0850471
name: N1 diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features." [DOID:0081067]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081067 {source="MONDO:equivalentTo"}
xref: MEDGEN:1650336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4725004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1650336"}
is_a: MONDO:0018905 {source="DOID:0081067"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0850472
name: ST2 diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding." [DOID:0081068]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081068 {source="MONDO:equivalentTo"}
xref: MEDGEN:1815989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5707084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1815989"}
is_a: MONDO:0018905 {source="DOID:0081068"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0850473
name: A53 diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation." [DOID:0081069]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081069 {source="MONDO:equivalentTo"}
xref: MEDGEN:1815990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5707085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1815990"}
is_a: MONDO:0018905 {source="DOID:0081069"} ! diffuse large B-cell lymphoma

[Term]
id: MONDO:0850492
name: acute myeloid leukemia, t(8;21)(q22; q22.1)
def: "An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules." [DOID:0081093]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081093 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="DOID:0081093"} ! acute myeloid leukemia

[Term]
id: MONDO:0850495
name: acute myeloid leukemia, t(1;22)(p13;q13)
def: "An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein." [DOID:0081096]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081096 {source="MONDO:equivalentTo"}
is_a: MONDO:0018874 {source="DOID:0081096"} ! acute myeloid leukemia

[Term]
id: MONDO:0850514
name: inclusion body myopathy and brain white matter abnormalities
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081121 {source="MONDO:equivalentTo"}
xref: MEDGEN:1812978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619733 {source="MONDO:equivalentTo"}
xref: UMLS:C5676909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812978"}
is_a: MONDO:0000426 {source="DOID:0081121"} ! autosomal dominant disease
is_a: MONDO:0000507 {source="DOID:0081121"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia

[Term]
id: MONDO:0850519
name: tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
def: "An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4." [DOID:0081132]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081132 {source="MONDO:equivalentTo"}
is_a: MONDO:0004736 {source="DOID:0081132"} ! inborn disorder of amino acid metabolism

[Term]
id: MONDO:0850618
name: injection anthrax
def: "An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores." [DOID:0081239]
xref: DOID:0081239 {source="MONDO:equivalentTo"}
is_a: MONDO:0005119 {source="DOID:0081239"} ! anthrax infection

[Term]
id: MONDO:0850812
name: dendritic cell deficiency
def: "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells." [DOID:0111963]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0111963 {source="MONDO:equivalentTo"}
xref: MEDGEN:1656300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4746814 {source="MONDO:equivalentTo", source="MEDGEN:1656300", source="MONDO:MEDGEN"}
is_a: MONDO:0003778 {source="DOID:0111963"} ! inborn error of immunity

[Term]
id: MONDO:0851095
name: KINSSHIP syndrome
def: "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2." [DOID:0112383]
xref: DOID:0112383 {source="MONDO:equivalentTo"}
xref: MEDGEN:1779339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619297 {source="MONDO:equivalentTo"}
xref: UMLS:C5543317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779339"}
is_a: MONDO:0000426 {source="DOID:0112383"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="DOID:0112383"} ! syndromic disease

[Term]
id: MONDO:0851100
name: malignant olfactory nerve neoplasm
xref: DOID:370 {source="MONDO:equivalentTo"}
xref: MEDGEN:105419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0496838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105419"}
is_a: MONDO:0002433 {source="DOID:370"} ! malignant cranial nerve neoplasm

[Term]
id: MONDO:0851102
name: pulmonary artery disease
xref: DOID:60001 {source="MONDO:equivalentTo"}
is_a: MONDO:0000473 {source="DOID:60001"} ! arterial disorder
is_a: MONDO:0005275 {source="DOID:60001"} ! lung disorder

[Term]
id: MONDO:0851103
name: Bartholin's gland disease
def: "A female reproductive system disease that is located in Bartholin's gland." [DOID:60002]
xref: DOID:60002 {source="MONDO:equivalentTo"}
xref: MEDGEN:635229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0477776 {source="MONDO:equivalentTo", source="MEDGEN:635229", source="MONDO:MEDGEN"}
is_a: MONDO:0002263 {source="DOID:60002"} ! female reproductive system disorder

[Term]
id: MONDO:0851105
name: cerebrovascular benign neoplasm
xref: DOID:60007 {source="MONDO:equivalentTo"}
is_a: MONDO:0000629 {source="DOID:60007"} ! cardiovascular organ benign neoplasm

[Term]
id: MONDO:0858910
name: dropped head syndrome
def: "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles." [DOID:0060034]
xref: DOID:0060034 {source="MONDO:equivalentTo"}
xref: MEDGEN:757938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C3266164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:757938"}
is_a: MONDO:0000812 {source="DOID:0060034"} ! vertebral column disorder

[Term]
id: MONDO:0858916
name: pituitary blastoma
def: "A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations." [DOID:0081244]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081244 {source="MONDO:equivalentTo"}
xref: MEDGEN:1656462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4743978 {source="MEDGEN:1656462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002109 {source="DOID:0081244"} ! pituitary cancer
is_a: MONDO:0005565 {source="DOID:0081244"} ! blastoma

[Term]
id: MONDO:0858917
name: cauda equina neuroendocrine tumor
def: "A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina." [DOID:0081245]
xref: DOID:0081245 {source="MONDO:equivalentTo"}
xref: MEDGEN:272437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1332860 {source="MEDGEN:272437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003164 {source="DOID:0081245"} ! cauda equina neoplasm

[Term]
id: MONDO:0858921
name: EWSR1-negative small round cell tumor
def: "A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm." [DOID:0081249]
xref: DOID:0081249 {source="MONDO:equivalentTo"}
xref: MEDGEN:1714743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C165671 {source="MONDO:equivalentTo"}
xref: UMLS:C5237359 {source="MONDO:equivalentTo", source="MEDGEN:1714743", source="MONDO:MEDGEN"}
is_a: MONDO:0006974 {source="DOID:0081249"} ! small cell sarcoma

[Term]
id: MONDO:0858926
name: developmental delay, hypotrophy, and dysmorphic features without moebius syndrome
def: "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R)." [DOID:0081264]
xref: DOID:0081264 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0081264"} ! syndromic disease

[Term]
id: MONDO:0858939
name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
def: "A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations." [DOID:0081277]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081277 {source="MONDO:equivalentTo"}
xref: MEDGEN:1808288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5669918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808288"}
is_a: MONDO:0100342 {source="DOID:0081277"} ! malignant glioma

[Term]
id: MONDO:0858940
name: infant-type hemispheric glioma
def: "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood." [DOID:0081278]
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: DOID:0081278 {source="MONDO:equivalentTo"}
xref: MEDGEN:1806401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5669919 {source="MEDGEN:1806401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021636 {source="DOID:0081278"} ! astrocytic tumor

[Term]
id: MONDO:0858944
name: myxoid glioneuronal tumor
def: "A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma." [DOID:0081285]
xref: DOID:0081285 {source="MONDO:equivalentTo"}
xref: MEDGEN:1791986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5555545 {source="MEDGEN:1791986", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000628 {source="DOID:0081285"} ! central nervous system organ benign neoplasm

[Term]
id: MONDO:0858950
name: traumatic brain injury
def: "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head." [DOID:0081292]
xref: DOID:0081292 {source="MONDO:equivalentTo"}
is_a: MONDO:0005560 {source="DOID:0081292"} ! brain disorder
is_a: MONDO:0043510 {source="https://orcid.org/0000-0002-4142-7153"} ! brain injury

[Term]
id: MONDO:0858956
name: diffuse leptomeningeal glioneuronal tumor
def: "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma." [DOID:0081302]
subset: otar {source="MONDO:OTAR"}
xref: DOID:0081302 {source="MONDO:equivalentTo"}
xref: MEDGEN:1391318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4329735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1391318"}
is_a: MONDO:0000628 {source="DOID:0081302"} ! central nervous system organ benign neoplasm

[Term]
id: MONDO:0858957
name: multinodular and vacuolating neuronal tumor
def: "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres." [DOID:0081303]
xref: DOID:0081303 {source="MONDO:equivalentTo"}
xref: MEDGEN:1372723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4330721 {source="MEDGEN:1372723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000628 {source="DOID:0081303"} ! central nervous system organ benign neoplasm

[Term]
id: MONDO:0858958
name: high-grade astrocytoma with piloid features
def: "An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa." [DOID:0081304]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081304 {source="MONDO:equivalentTo"}
xref: MEDGEN:1812304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5670122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812304"}
is_a: MONDO:0016684 {source="DOID:0081304"} ! anaplastic astrocytoma

[Term]
id: MONDO:0858959
name: polymorphous low grade neuroepithelial tumor of the young
def: "A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy." [DOID:0081305]
xref: DOID:0081305 {source="MONDO:equivalentTo"}
xref: MEDGEN:1792771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5556330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1792771"}
is_a: MONDO:0000628 {source="DOID:0081305"} ! central nervous system organ benign neoplasm

[Term]
id: MONDO:0858960
name: spindle cell oncocytoma
def: "A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles." [DOID:0081306]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081306 {source="MONDO:equivalentTo"}
xref: MEDGEN:458787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C2986561 {source="MEDGEN:458787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003257 {source="DOID:0081306"} ! posterior pituitary gland neoplasm

[Term]
id: MONDO:0858966
name: central nervous system tumor with bcor internal tandem duplication
def: "A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene." [DOID:0081315]
xref: DOID:0081315 {source="MONDO:equivalentTo"}
xref: MEDGEN:1811171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5670630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811171"}
is_a: MONDO:0000640 {source="DOID:0081315"} ! central nervous system primitive neuroectodermal neoplasm

[Term]
id: MONDO:0858967
name: primary intracranial sarcoma, DICER1-mutant
def: "A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene." [DOID:0081316]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081316 {source="MONDO:equivalentTo"}
xref: MEDGEN:1805730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5670660 {source="MEDGEN:1805730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002216 {source="DOID:0081316"} ! brain sarcoma

[Term]
id: MONDO:0858974
name: breast implant illness
def: "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. This syndrome may be related to breast implants" [DOID:0081323, https://orcid.org/0000-0002-4142-7153, PMID:35510012]
xref: DOID:0081323 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="DOID:0081323"} ! syndromic disease
is_a: MONDO:0002657 {source="DOID:0081323"} ! breast disorder

[Term]
id: MONDO:0858986
name: obsolete autosomal dominant spastic paraplegia type 80
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0032737

[Term]
id: MONDO:0858987
name: obsolete autosomal recessive spastic paraplegia type 82
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0032906

[Term]
id: MONDO:0858988
name: obsolete autosomal recessive spastic paraplegia type 83
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0033614

[Term]
id: MONDO:0858989
name: obsolete autosomal recessive spastic paraplegia type 84
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0030482

[Term]
id: MONDO:0858990
name: obsolete autosomal recessive spastic paraplegia type 85
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0030512

[Term]
id: MONDO:0858991
name: obsolete autosomal recessive spastic paraplegia type 86
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0030673

[Term]
id: MONDO:0858992
name: obsolete autosomal recessive spastic paraplegia type 87
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0031019

[Term]
id: MONDO:0858997
name: cancer of unknown primary site
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:631251"}
subset: orphanet_rare {source="Orphanet:631251"}
subset: rare
xref: MEDGEN:113094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:631251 {source="MONDO:equivalentTo"}
xref: UMLS:C0220647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113094"}
is_a: MONDO:0004992 {source="Orphanet:631251", source="https://orcid.org/0000-0001-5208-3432"} ! cancer

[Term]
id: MONDO:0858998
name: mesomelic dysplasia-digital anomalies-intellectual disability syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:632603"}
subset: orphanet_rare {source="Orphanet:632603"}
subset: rare
xref: MEDGEN:1843408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:632603 {source="MONDO:equivalentTo"}
xref: UMLS:C5816803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843408"}
is_a: MONDO:0015159 {source="Orphanet:632603", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0858999
name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:633004"}
subset: orphanet_rare {source="Orphanet:633004"}
subset: rare
xref: Orphanet:633004 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:633004", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0859000
name: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:633014"}
subset: orphanet_rare {source="Orphanet:633014"}
subset: rare
xref: MEDGEN:1843423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:633014 {source="MONDO:equivalentTo"}
xref: UMLS:C5816806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843423"}
is_a: MONDO:0015159 {source="Orphanet:633014", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0859001
name: CPE-related Prader-Willi-like syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:633028"}
subset: orphanet_rare {source="Orphanet:633028"}
subset: rare
xref: Orphanet:633028 {source="MONDO:equivalentTo"}
is_a: MONDO:0018354 {source="Orphanet:633028", source="https://orcid.org/0000-0001-5208-3432"} ! Prader-Willi-like syndrome

[Term]
id: MONDO:0859002
name: intellectual disability-early-onset cataract-microcephaly syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:633035"}
subset: orphanet_rare {source="Orphanet:633035"}
subset: rare
xref: Orphanet:633035 {source="MONDO:equivalentTo"}
is_a: MONDO:0015159 {source="Orphanet:633035", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0859003
name: PAICS deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:633099"}
subset: orphanet_rare {source="Orphanet:633099"}
subset: rare
xref: Orphanet:633099 {source="MONDO:equivalentTo"}
is_a: MONDO:0019236 {source="Orphanet:633099", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of purine metabolism

[Term]
id: MONDO:0859004
name: invasive scopulariopsis infection
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:633124"}
subset: orphanet_rare {source="Orphanet:633124"}
subset: rare
xref: MEDGEN:1843422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:633124 {source="MONDO:equivalentTo"}
xref: UMLS:C5816808 {source="MEDGEN:1843422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002041 {source="Orphanet:633124", source="https://orcid.org/0000-0001-5208-3432"} ! fungal infectious disease

[Term]
id: MONDO:0859005
name: preaxial digit brachydactyly-webbed fingers
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:633211"}
subset: orphanet_rare {source="Orphanet:633211"}
subset: rare
xref: MEDGEN:1843425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:633211 {source="MONDO:equivalentTo"}
xref: UMLS:C5816807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843425"}
is_a: MONDO:0018234 {source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021004 {source="https://orcid.org/0009-0001-6494-4831"} ! brachydactyly
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI

[Term]
id: MONDO:0859006
name: proximal femoral focal deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:633228"}
subset: orphanet_rare {source="Orphanet:633228"}
subset: rare
xref: MEDGEN:609280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:633228 {source="MONDO:equivalentTo"}
xref: UMLS:C0431996 {source="MEDGEN:609280", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="PMID:35486897", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
is_a: MONDO:0018234 {source="PMID:35486897", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis
is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI

[Term]
id: MONDO:0859007
name: mosaic Legius syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:634511"}
subset: orphanet_rare {source="Orphanet:634511"}
subset: rare
xref: MEDGEN:1843406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:634511 {source="MONDO:equivalentTo"}
xref: UMLS:C5816780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843406"}
is_a: MONDO:0019289 {source="Orphanet:634511", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin

[Term]
id: MONDO:0859008
name: neurofibromatosis/schwannomatosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:634518"}
subset: rare
xref: MEDGEN:1843398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:634518 {source="MONDO:equivalentTo"}
xref: UMLS:C5816781 {source="MEDGEN:1843398", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015356 {source="Orphanet:634518", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome

[Term]
id: MONDO:0859046
name: rhabdomyosarcoma, embryonal, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:357232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:180295 {source="MONDO:equivalentTo"}
xref: UMLS:C1867234 {source="MEDGEN:357232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005212 {source="OMIM:180295"} ! rhabdomyosarcoma

[Term]
id: MONDO:0859050
name: Schistosoma mansoni infection, susceptibility/resistance to
def: "An inherited predisposition to Schistosoma mansoni infection intensity and reinfection after treatment." [OMIM:181460]
subset: predisposition
xref: MEDGEN:401132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:181460 {source="MONDO:equivalentTo"}
xref: UMLS:C1866993 {source="MEDGEN:401132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:181460"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0044345 ! Schistosoma mansoni infectious disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7352" xsd:anyURI

[Term]
id: MONDO:0859080
name: intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
xref: MEDGEN:1794140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301066 {source="MONDO:equivalentTo"}
xref: UMLS:C5561930 {source="MEDGEN:1794140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020119 {source="OMIM:301066"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0859081
name: chromosome Xq13 duplication syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1809227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301069 {source="MONDO:equivalentTo"}
xref: UMLS:C5677057 {source="MEDGEN:1809227", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 {source="OMIM:301069"} ! chromosomal disorder

[Term]
id: MONDO:0859082
name: thrombophilia, X-linked, due to factor 8 defect
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1805414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301071 {source="MONDO:equivalentTo"}
xref: UMLS:C5676879 {source="MEDGEN:1805414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100240 {source="OMIM:301071"} ! inherited thrombophilia

[Term]
id: MONDO:0859083
name: systemic lupus erythematosus 17
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1804329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301080 {source="MONDO:equivalentTo"}
xref: UMLS:C5676884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804329"}
is_a: MONDO:0007915 {source="OMIM:301080"} ! systemic lupus erythematosus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0859085
name: neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
xref: MEDGEN:1823953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301094 {source="MONDO:equivalentTo"}
xref: UMLS:C5774179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823953"}
is_a: MONDO:0700092 {source="OMIM:301094"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859086
name: intellectual developmental disorder, X-linked 110
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1823954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301095 {source="MONDO:equivalentTo"}
xref: UMLS:C5774180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823954"}
is_a: MONDO:0019181 {source="OMIM:301095"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0859136
name: Alzahrani-Kuwahara syndrome
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:18544", source="MONDO:GARD"}
subset: rare
xref: GARD:18544 {source="MONDO:GARD"}
xref: MEDGEN:1782127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619268 {source="MONDO:equivalentTo"}
xref: UMLS:C5543274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782127"}
is_a: MONDO:0700092 {source="OMIM:619268"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859137
name: neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
xref: MEDGEN:1781371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619286 {source="MONDO:equivalentTo"}
xref: UMLS:C5543306 {source="MEDGEN:1781371", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619286"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859139
name: blepharophimosis-impaired intellectual development syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:637013"}
subset: orphanet_rare {source="Orphanet:637013"}
subset: rare
synonym: "SMARCA2-related blepharophimosis-intellectual disability syndrome" EXACT [Orphanet:637013]
xref: DOID:0081442 {source="MONDO:equivalentTo"}
xref: MEDGEN:1779966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619293 {source="MONDO:equivalentTo"}
xref: Orphanet:637013 {source="MONDO:equivalentTo"}
xref: UMLS:C5443984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779966"}
is_a: MONDO:0003847 {source="OMIM:619293"} ! hereditary disease

[Term]
id: MONDO:0859141
name: neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
subset: gard_rare {source="GARD:18545", source="MONDO:GARD"}
subset: rare
xref: GARD:18545 {source="MONDO:GARD"}
xref: MEDGEN:1786150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619306 {source="MONDO:equivalentTo"}
xref: UMLS:C5543332 {source="MEDGEN:1786150", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619306"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859142
name: Hiatt-Neu-Cooper neurodevelopmental syndrome
xref: MEDGEN:1785187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619311 {source="MONDO:equivalentTo"}
xref: UMLS:C5543338 {source="MONDO:equivalentTo", source="MEDGEN:1785187", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619311"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859143
name: Radio-Tartaglia syndrome
def: "A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females." [PMID:33596411]
subset: ordo_disorder {source="Orphanet:662234"}
subset: orphanet_rare {source="Orphanet:662234"}
subset: rare
synonym: "SPEN-related neurodevelopmental disorder" EXACT [https://clinicalgenome.org/affiliation/40060/]
xref: MEDGEN:1778557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619312 {source="MONDO:equivalentTo"}
xref: Orphanet:662234 {source="MONDO:equivalentTo"}
xref: UMLS:C5543339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778557"}
is_a: MONDO:0003847 {source="OMIM:619312"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6860" xsd:anyURI

[Term]
id: MONDO:0859144
name: Buratti-Harel syndrome
subset: gard_rare {source="GARD:18546", source="MONDO:GARD"}
subset: rare
xref: GARD:18546 {source="MONDO:GARD"}
xref: MEDGEN:1788293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619314 {source="MONDO:equivalentTo"}
xref: UMLS:C5543351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788293"}
is_a: MONDO:0003847 {source="OMIM:619314"} ! hereditary disease

[Term]
id: MONDO:0859146
name: growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
xref: MEDGEN:1784590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619321 {source="MONDO:equivalentTo"}
xref: UMLS:C5543375 {source="MEDGEN:1784590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619321"} ! hereditary disease

[Term]
id: MONDO:0859147
name: Marbach-Rustad progeroid syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:659873"}
subset: orphanet_rare {source="Orphanet:659873"}
subset: rare
xref: MEDGEN:1784907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619322 {source="MONDO:equivalentTo"}
xref: Orphanet:659873 {source="MONDO:equivalentTo"}
xref: UMLS:C5543388 {source="MEDGEN:1784907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015333 {source="OMIM:619322"} ! progeroid syndrome

[Term]
id: MONDO:0859148
name: neurodevelopmental disorder with seizures and gingival overgrowth
xref: MEDGEN:1784299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619323 {source="MONDO:equivalentTo"}
xref: UMLS:C5543395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784299"}
is_a: MONDO:0700092 {source="OMIM:619323"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859149
name: hypertriglyceridemia 2
xref: MEDGEN:1783778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619324 {source="MONDO:equivalentTo"}
xref: UMLS:C5543398 {source="MEDGEN:1783778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005347 {source="OMIM:619324"} ! hypertriglyceridemia

[Term]
id: MONDO:0859150
name: BDV syndrome
xref: MEDGEN:1785671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619326 {source="MONDO:equivalentTo"}
xref: UMLS:C5543403 {source="MONDO:equivalentTo", source="MEDGEN:1785671", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619326"} ! hereditary disease

[Term]
id: MONDO:0859151
name: fibromuscular dysplasia, multifocal
xref: MEDGEN:1778238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619329 {source="MONDO:equivalentTo"}
xref: UMLS:C5543412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778238"}
is_a: MONDO:0000473 {source="OMIM:619329"} ! arterial disorder
is_a: MONDO:0003847 {source="OMIM:619329"} ! hereditary disease

[Term]
id: MONDO:0859152
name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
xref: DOID:0070443 {source="MONDO:equivalentTo"}
xref: MEDGEN:1781936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619333 {source="MONDO:equivalentTo"}
xref: UMLS:C5543427 {source="MONDO:equivalentTo", source="MEDGEN:1781936", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619333"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859154
name: Bartsocas-Papas syndrome 2
subset: gard_rare {source="GARD:16444", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: GARD:16444 {source="MONDO:GARD"}
xref: MEDGEN:1778443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619339 {source="MONDO:equivalentTo"}
xref: UMLS:C5543445 {source="MEDGEN:1778443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017435 {source="OMIM:619339"} ! popliteal pterygium syndrome

[Term]
id: MONDO:0859155
name: chromosome 1p36 deletion syndrome, proximal
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1794324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619343 {source="MONDO:equivalentTo"}
xref: UMLS:C5562114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794324"}
is_a: MONDO:0019040 {source="OMIM:619343"} ! chromosomal disorder

[Term]
id: MONDO:0859156
name: dysostosis multiplex, Ain-Naz type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1780944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619345 {source="MONDO:equivalentTo"}
xref: UMLS:C5444223 {source="MEDGEN:1780944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018234 {source="OMIM:619345"} ! dysostosis

[Term]
id: MONDO:0859157
name: visceral myopathy 2
subset: gard_rare {source="GARD:16446", source="MONDO:GARD"}
subset: rare
xref: GARD:16446 {source="MONDO:GARD"}
xref: MEDGEN:1783630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619350 {source="MONDO:equivalentTo"}
xref: UMLS:C5543466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783630"}
is_a: MONDO:0016829 {source="OMIM:619350"} ! familial visceral myopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0859158
name: ataxia, intention tremor, and hypotonia syndrome, childhood-onset
xref: MEDGEN:1787902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619352 {source="MONDO:equivalentTo"}
xref: UMLS:C5543478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787902"}
is_a: MONDO:0003847 {source="OMIM:619352"} ! hereditary disease

[Term]
id: MONDO:0859159
name: deafness, cataract, impaired intellectual development, and polyneuropathy
xref: MEDGEN:1781637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619354 {source="MONDO:equivalentTo"}
xref: UMLS:C5543482 {source="MEDGEN:1781637", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619354"} ! hereditary disease

[Term]
id: MONDO:0859160
name: mitochondrial complex IV deficiency, nuclear type 22
subset: gard_rare {source="GARD:16448", source="MONDO:GARD"}
subset: rare
xref: DOID:0070507 {source="MONDO:equivalentTo"}
xref: GARD:16448 {source="MONDO:GARD"}
xref: MEDGEN:1786100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619355 {source="MONDO:equivalentTo"}
xref: UMLS:C5543491 {source="MONDO:equivalentTo", source="MEDGEN:1786100", source="MONDO:MEDGEN"}
is_a: MONDO:0033885 {source="OMIM:619355"} ! mitochondrial complex IV deficiency, nuclear-type

[Term]
id: MONDO:0859161
name: onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
xref: MEDGEN:1788511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619356 {source="MONDO:equivalentTo"}
xref: UMLS:C5543496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788511"}
is_a: MONDO:0003847 {source="OMIM:619356"} ! hereditary disease

[Term]
id: MONDO:0859162
name: neurodevelopmental disorder with infantile epileptic spasms
xref: MEDGEN:1781627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619373 {source="MONDO:equivalentTo"}
xref: UMLS:C5543538 {source="MEDGEN:1781627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619373"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859163
name: Faundes-Banka syndrome
xref: MEDGEN:1782083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619376 {source="MONDO:equivalentTo"}
xref: UMLS:C5543554 {source="MEDGEN:1782083", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619376"} ! hereditary disease

[Term]
id: MONDO:0859164
name: osteootohepatoenteric syndrome
xref: MEDGEN:1785846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619377 {source="MONDO:equivalentTo"}
xref: UMLS:C5543557 {source="MEDGEN:1785846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619377"} ! hereditary disease

[Term]
id: MONDO:0859165
name: neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
xref: MEDGEN:1780615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619383 {source="MONDO:equivalentTo"}
xref: UMLS:C5543591 {source="MEDGEN:1780615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619383"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859166
name: visceral leiomyopathy, African degenerative
xref: MEDGEN:1781444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619400 {source="MONDO:equivalentTo"}
xref: UMLS:C5443983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781444"}
is_a: MONDO:0005020 {source="OMIM:619400"} ! intestinal disorder

[Term]
id: MONDO:0859167
name: hypokalemic tubulopathy and deafness
xref: MEDGEN:1785163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619406 {source="MONDO:equivalentTo"}
xref: UMLS:C5543621 {source="MEDGEN:1785163", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619406"} ! hereditary disease

[Term]
id: MONDO:0859168
name: myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1794147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619424 {source="MONDO:equivalentTo"}
xref: UMLS:C5561937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794147"}
is_a: MONDO:0018943 {source="OMIM:619424"} ! myofibrillar myopathy

[Term]
id: MONDO:0859169
name: White-Kernohan syndrome
xref: MEDGEN:1785087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619426 {source="MONDO:equivalentTo"}
xref: UMLS:C5543635 {source="MEDGEN:1785087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619426"} ! hereditary disease

[Term]
id: MONDO:0859170
name: retinal dystrophy and microvillus inclusion disease
xref: MEDGEN:1794153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619446 {source="MONDO:equivalentTo"}
xref: UMLS:C5561943 {source="MEDGEN:1794153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619446"} ! hereditary disease

[Term]
id: MONDO:0859171
name: Luo-Schoch-Yamamoto syndrome
xref: DOID:0070416 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619460 {source="MONDO:equivalentTo"}
xref: UMLS:C5561946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794156"}
is_a: MONDO:0003847 {source="OMIM:619460"} ! hereditary disease

[Term]
id: MONDO:0859172
name: hemolytic disease of fetus and newborn, RH-induced
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1789316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619462 {source="MONDO:equivalentTo"}
xref: UMLS:C0748400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1789316"}
is_a: MONDO:0003664 {source="OMIM:619462"} ! hemolytic anemia

[Term]
id: MONDO:0859173
name: sick sinus syndrome 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1794159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619464 {source="MONDO:equivalentTo"}
xref: UMLS:C5561949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794159"}
is_a: MONDO:0012061 {source="OMIM:619464"} ! familial sick sinus syndrome

[Term]
id: MONDO:0859174
name: Usmani-Riazuddin syndrome, autosomal dominant
xref: MEDGEN:1794162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619467 {source="MONDO:equivalentTo"}
xref: UMLS:C5561952 {source="MEDGEN:1794162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619467"} ! hereditary disease

[Term]
id: MONDO:0859175
name: nephronophthisis-like nephropathy 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1794163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619468 {source="MONDO:equivalentTo"}
xref: UMLS:C5561953 {source="MONDO:equivalentTo", source="MEDGEN:1794163", source="MONDO:MEDGEN"}
is_a: MONDO:0019005 {source="OMIM:619468"} ! nephronophthisis

[Term]
id: MONDO:0859176
name: neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
xref: MEDGEN:1794164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619470 {source="MONDO:equivalentTo"}
xref: UMLS:C5561954 {source="MEDGEN:1794164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619470"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859177
name: VISS syndrome
xref: MEDGEN:1794165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619472 {source="MONDO:equivalentTo"}
xref: UMLS:C5561955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794165"}
is_a: MONDO:0003847 {source="OMIM:619472"} ! hereditary disease

[Term]
id: MONDO:0859178
name: developmental delay, impaired speech, and behavioral abnormalities
xref: MEDGEN:1794167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619475 {source="MONDO:equivalentTo"}
xref: UMLS:C5561957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794167"}
is_a: MONDO:0003847 {source="OMIM:619475"} ! hereditary disease

[Term]
id: MONDO:0859179
name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
xref: DOID:0070469 {source="MONDO:equivalentTo"}
xref: MEDGEN:1790413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619480 {source="MONDO:equivalentTo"}
xref: UMLS:C5551361 {source="MEDGEN:1790413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619480"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859180
name: bile acid malabsorption, primary, 2
xref: MEDGEN:1794172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619481 {source="MONDO:equivalentTo"}
xref: UMLS:C5561962 {source="MEDGEN:1794172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619481"} ! hereditary disease

[Term]
id: MONDO:0859181
name: DEGCAGS syndrome
xref: MEDGEN:1794177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619488 {source="MONDO:equivalentTo"}
xref: UMLS:C5561967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794177"}
is_a: MONDO:0003847 {source="OMIM:619488"} ! hereditary disease

[Term]
id: MONDO:0859182
name: Short stature, Dauber-Argente type
xref: MEDGEN:1794178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619489 {source="MONDO:equivalentTo"}
xref: UMLS:C5561968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794178"}
is_a: MONDO:0002081 {source="OMIM:619489"} ! musculoskeletal system disorder

[Term]
id: MONDO:0859183
name: Parkinson disease 24, autosomal dominant, susceptibility to
xref: MEDGEN:1794179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619491 {source="MONDO:equivalentTo"}
xref: UMLS:C5561969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794179"}
is_a: MONDO:0020573 {source="OMIM:619491"} ! inherited disease susceptibility

[Term]
id: MONDO:0859184
name: ventriculomegaly and arthrogryposis
xref: MEDGEN:1794183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619501 {source="MONDO:equivalentTo"}
xref: UMLS:C5561973 {source="MEDGEN:1794183", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619501"} ! hereditary disease

[Term]
id: MONDO:0859185
name: neurodevelopmental disorder with hypotonia and dysmorphic facies
xref: MEDGEN:1794184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619503 {source="MONDO:equivalentTo"}
xref: UMLS:C5561974 {source="MEDGEN:1794184", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619503"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859186
name: Chopra-Amiel-Gordon syndrome
xref: MEDGEN:1794185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619504 {source="MONDO:equivalentTo"}
xref: UMLS:C5561975 {source="MONDO:equivalentTo", source="MEDGEN:1794185", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619504"} ! hereditary disease

[Term]
id: MONDO:0859187
name: neurodevelopmental disorder with hypotonia and brain abnormalities
xref: MEDGEN:1794187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619512 {source="MONDO:equivalentTo"}
xref: UMLS:C5561977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794187"}
is_a: MONDO:0700092 {source="OMIM:619512"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859188
name: neurodevelopmental disorder with seizures and brain abnormalities
xref: MEDGEN:1794189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619517 {source="MONDO:equivalentTo"}
xref: UMLS:C5561979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794189"}
is_a: MONDO:0700092 {source="OMIM:619517"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859189
name: muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
xref: MEDGEN:1794190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619518 {source="MONDO:equivalentTo"}
xref: UMLS:C5561980 {source="MEDGEN:1794190", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619518"} ! hereditary disease

[Term]
id: MONDO:0859190
name: neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
synonym: "ZMYM2-related neurodevelopmental disorder with multiple anomalies" EXACT [https://orcid.org/0000-0001-9310-0163]
xref: MEDGEN:1794194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619522 {source="MONDO:equivalentTo"}
xref: UMLS:C5561984 {source="MEDGEN:1794194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619522"} ! hereditary disease

[Term]
id: MONDO:0859191
name: biliary, renal, neurologic, and skeletal syndrome
xref: MEDGEN:1794200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619534 {source="MONDO:equivalentTo"}
xref: UMLS:C5561990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794200"}
is_a: MONDO:0003847 {source="OMIM:619534"} ! hereditary disease

[Term]
id: MONDO:0859192
name: cerebral cavernous malformation 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "cerebral cavernous malformations 4" EXACT [OMIM:619538]
xref: MEDGEN:1794201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619538 {source="MONDO:equivalentTo"}
xref: UMLS:C5561991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794201"}
is_a: MONDO:0031037 {source="OMIM:619538"} ! famililal cerebral cavernous malformations

[Term]
id: MONDO:0859193
name: neuroocular syndrome
xref: MEDGEN:1790414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619539 {source="MONDO:mondoIsBroaderThanSource"}
xref: OMIMPS:619539 {source="MONDO:equivalentTo"}
xref: UMLS:C5551362 {source="MEDGEN:1790414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005071 {source="OMIM:619539"} ! nervous system disorder
is_a: MONDO:0005328 {source="OMIM:619539"} ! eye disorder
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619539"} ! inherited

[Term]
id: MONDO:0859194
name: Boudin-Mortier syndrome
xref: MEDGEN:1794202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619543 {source="MONDO:equivalentTo"}
xref: UMLS:C5561992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794202"}
is_a: MONDO:0003847 {source="OMIM:619543"} ! hereditary disease

[Term]
id: MONDO:0859196
name: Usmani-Riazuddin syndrome, autosomal recessive
xref: MEDGEN:1794204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619548 {source="MONDO:equivalentTo"}
xref: UMLS:C5561994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794204"}
is_a: MONDO:0003847 {source="OMIM:619548"} ! hereditary disease

[Term]
id: MONDO:0859197
name: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
xref: DOID:0081262 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619556 {source="MONDO:equivalentTo"}
xref: UMLS:C5561997 {source="MEDGEN:1794207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619556"} ! hereditary disease

[Term]
id: MONDO:0859198
name: short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
xref: MEDGEN:1794208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619557 {source="MONDO:equivalentTo"}
xref: UMLS:C5561998 {source="MEDGEN:1794208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619557"} ! hereditary disease

[Term]
id: MONDO:0859199
name: developmental delay with or without intellectual impairment or behavioral abnormalities
xref: MEDGEN:1794214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619575 {source="MONDO:equivalentTo"}
xref: UMLS:C5562004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794214"}
is_a: MONDO:0003847 {source="OMIM:619575"} ! hereditary disease

[Term]
id: MONDO:0859200
name: cerebellar ataxia, brain abnormalities, and cardiac conduction defects
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641361"}
subset: orphanet_rare {source="Orphanet:641361"}
subset: rare
synonym: "neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome" EXACT [Orphanet:641361]
xref: MEDGEN:1794215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619576 {source="MONDO:equivalentTo"}
xref: Orphanet:641361 {source="MONDO:equivalentTo"}
xref: UMLS:C5562005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794215"}
is_a: MONDO:0003847 {source="OMIM:619576"} ! hereditary disease

[Term]
id: MONDO:0859201
name: neurodevelopmental disorder with impaired language and ataxia and with or without seizures
xref: MEDGEN:1794216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619580 {source="MONDO:equivalentTo"}
xref: UMLS:C5562006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794216"}
is_a: MONDO:0700092 {source="OMIM:619580"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859202
name: developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
xref: MEDGEN:1794222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619595 {source="MONDO:equivalentTo"}
xref: UMLS:C5562012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794222"}
is_a: MONDO:0003847 {source="OMIM:619595"} ! hereditary disease

[Term]
id: MONDO:0859203
name: rhizomelic dysplasia, Ain-Naz type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1794223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619598 {source="MONDO:equivalentTo"}
xref: UMLS:C5562013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794223"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
is_a: MONDO:0018230 {source="PMID:36097642", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0859204
name: fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
xref: MEDGEN:1794225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619602 {source="MONDO:equivalentTo"}
xref: UMLS:C5562015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794225"}
is_a: MONDO:0003847 {source="OMIM:619602"} ! hereditary disease

[Term]
id: MONDO:0859205
name: delayed puberty, self-limited
xref: MEDGEN:1789612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619613 {source="MONDO:equivalentTo"}
xref: UMLS:C2874202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1789612"}
is_a: MONDO:0002263 {source="https://orcid.org/0000-0002-5002-8648"} ! female reproductive system disorder
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI

[Term]
id: MONDO:0859206
name: neurodevelopmental disorder with hearing loss and spasticity
xref: MEDGEN:1794234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619616 {source="MONDO:equivalentTo"}
xref: UMLS:C5562024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794234"}
is_a: MONDO:0700092 {source="OMIM:619616"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859207
name: neurodevelopmental disorder with hypotonia and gross motor and speech delay
xref: MEDGEN:1794241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619639 {source="MONDO:equivalentTo"}
xref: UMLS:C5562031 {source="MEDGEN:1794241", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619639"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859208
name: Hengel-Maroofian-Schols syndrome
xref: DOID:0070408 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619641 {source="MONDO:equivalentTo"}
xref: UMLS:C5562032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794242"}
is_a: MONDO:0003847 {source="OMIM:619641"} ! hereditary disease

[Term]
id: MONDO:0859209
name: Zaki syndrome
xref: DOID:0070473 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619648 {source="MONDO:equivalentTo"}
xref: UMLS:C5562037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794247"}
is_a: MONDO:0003847 {source="OMIM:619648"} ! hereditary disease

[Term]
id: MONDO:0859210
name: chromosome 16q12 duplication syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1794292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619649 {source="MONDO:equivalentTo"}
xref: UMLS:C5562082 {source="MEDGEN:1794292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019040 {source="OMIM:619649"} ! chromosomal disorder

[Term]
id: MONDO:0859211
name: neurodevelopmental disorder with hyperkinetic movements and dyskinesia
xref: MEDGEN:1794248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619651 {source="MONDO:equivalentTo"}
xref: UMLS:C5562038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794248"}
is_a: MONDO:0700092 {source="OMIM:619651"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859212
name: neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
xref: MEDGEN:1794250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619653 {source="MONDO:equivalentTo"}
xref: UMLS:C5562040 {source="MEDGEN:1794250", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619653"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859213
name: congenital heart defects, multiple types, 8, with or without heterotaxy
xref: MEDGEN:1794252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619657 {source="MONDO:equivalentTo"}
xref: UMLS:C5562042 {source="MEDGEN:1794252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000119 {source="OMIM:619657"} ! congenital heart defects, multiple types

[Term]
id: MONDO:0859214
name: Marbach-Schaaf neurodevelopmental syndrome
xref: MEDGEN:1794260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619680 {source="MONDO:equivalentTo"}
xref: UMLS:C5562050 {source="MEDGEN:1794260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619680"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859215
name: dystonia, early-onset, and/or spastic paraplegia
xref: DOID:0070445 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619681 {source="MONDO:equivalentTo"}
xref: UMLS:C5562051 {source="MEDGEN:1794261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619681"} ! hereditary disease

[Term]
id: MONDO:0859216
name: neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
xref: MEDGEN:1794262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619685 {source="MONDO:equivalentTo"}
xref: UMLS:C5562052 {source="MONDO:equivalentTo", source="MEDGEN:1794262", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619685"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859217
name: Brunet-Wagner neurodevelopmental syndrome
xref: MEDGEN:1794266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619690 {source="MONDO:equivalentTo"}
xref: UMLS:C5562056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794266"}
is_a: MONDO:0700092 {source="OMIM:619690"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859218
name: developmental delay with variable neurologic and brain abnormalities
xref: MEDGEN:1794270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619694 {source="MONDO:equivalentTo"}
xref: UMLS:C5562060 {source="MEDGEN:1794270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619694"} ! hereditary disease

[Term]
id: MONDO:0859219
name: Rauch-Steindl syndrome
subset: ordo_subtype_of_a_disorder {source="Orphanet:659642"}
xref: MEDGEN:1794271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619695 {source="MONDO:equivalentTo"}
xref: Orphanet:659642 {source="MONDO:equivalentTo"}
xref: UMLS:C5562061 {source="MEDGEN:1794271", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619695"} ! hereditary disease

[Term]
id: MONDO:0859220
name: Ferguson-Bonni neurodevelopmental syndrome
xref: MEDGEN:1794275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619699 {source="MONDO:equivalentTo"}
xref: UMLS:C5562065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794275"}
is_a: MONDO:0700092 {source="OMIM:619699"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859221
name: Yoon-Bellen neurodevelopmental syndrome
xref: DOID:0070468 {source="MONDO:equivalentTo"}
xref: MEDGEN:1794276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619701 {source="MONDO:equivalentTo"}
xref: UMLS:C5562066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794276"}
is_a: MONDO:0700092 {source="OMIM:619701"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859222
name: heterotaxy, visceral, 12, autosomal
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1803695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619702 {source="MONDO:equivalentTo"}
xref: UMLS:C5676898 {source="MEDGEN:1803695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018677 {source="OMIM:619702"} ! visceral heterotaxy

[Term]
id: MONDO:0859223
name: congenital disorder of glycosylation, type Iw, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1794278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619714 {source="MONDO:equivalentTo"}
xref: UMLS:C5562068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794278"}
is_a: MONDO:0015286 {source="OMIM:619714"} ! congenital disorder of glycosylation

[Term]
id: MONDO:0859224
name: intellectual disability and myopathy syndrome
xref: MEDGEN:1808193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619719 {source="MONDO:equivalentTo"}
xref: UMLS:C5676904 {source="MEDGEN:1808193", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619719"} ! hereditary disease

[Term]
id: MONDO:0859225
name: neurodevelopmental disorder with or without variable movement or behavioral abnormalities
xref: MEDGEN:1802087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619725 {source="MONDO:equivalentTo"}
xref: UMLS:C5676908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802087"}
is_a: MONDO:0700092 {source="OMIM:619725"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859226
name: craniotubular dysplasia, Ikegawa type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0112340 {source="MONDO:equivalentTo"}
xref: MEDGEN:1806238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619727 {source="MONDO:equivalentTo"}
xref: UMLS:C5575335 {source="MEDGEN:1806238", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018230 {source="OMIM:619727"} ! skeletal dysplasia

[Term]
id: MONDO:0859228
name: combined oxidative phosphorylation deficiency 55
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070428 {source="MONDO:equivalentTo"}
xref: MEDGEN:1806598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619743 {source="MONDO:equivalentTo"}
xref: UMLS:C5676915 {source="MEDGEN:1806598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:619743"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0859229
name: cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
xref: MEDGEN:1808634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619761 {source="MONDO:equivalentTo"}
xref: UMLS:C5676924 {source="MEDGEN:1808634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619761"} ! hereditary disease

[Term]
id: MONDO:0859230
name: Kury-Isidor syndrome
xref: MEDGEN:1807460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619762 {source="MONDO:equivalentTo"}
xref: UMLS:C5676925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807460"}
is_a: MONDO:0003847 {source="OMIM:619762"} ! hereditary disease

[Term]
id: MONDO:0859231
name: macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
xref: MEDGEN:1802903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619769 {source="MONDO:equivalentTo"}
xref: UMLS:C5676928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802903"}
is_a: MONDO:0003847 {source="OMIM:619769"} ! hereditary disease

[Term]
id: MONDO:0859232
name: neurodevelopmental disorder with central hypotonia and dysmorphic facies
xref: MEDGEN:1807420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619797 {source="MONDO:equivalentTo"}
xref: UMLS:C5676944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1807420"}
is_a: MONDO:0700092 {source="OMIM:619797"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859233
name: epidermolysis bullosa, junctional 6, with pyloric atresia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1803348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619817 {source="MONDO:equivalentTo"}
xref: UMLS:C5676957 {source="MONDO:equivalentTo", source="MEDGEN:1803348", source="MONDO:MEDGEN"}
is_a: MONDO:0017612 {source="OMIM:619817"} ! junctional epidermolysis bullosa

[Term]
id: MONDO:0859234
name: agammaglobulinemia 8b, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081143 {source="MONDO:equivalentTo"}
xref: MEDGEN:1808468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619824 {source="MONDO:equivalentTo"}
xref: UMLS:C5676958 {source="MEDGEN:1808468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015977 {source="OMIM:619824"} ! agammaglobulinemia

[Term]
id: MONDO:0859235
name: auditory neuropathy, autosomal dominant 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0112373 {source="MONDO:equivalentTo"}
xref: MEDGEN:1805371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619832 {source="MONDO:equivalentTo"}
xref: UMLS:C5676964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805371"}
is_a: MONDO:0021944 {source="OMIM:619832"} ! auditory neuropathy

[Term]
id: MONDO:0859236
name: neurodevelopmental disorder with neuromuscular and skeletal abnormalities
xref: MEDGEN:1803456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619833 {source="MONDO:equivalentTo"}
xref: UMLS:C5676965 {source="MEDGEN:1803456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619833"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859237
name: 3-methylglutaconic aciduria, type VIIA
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081133 {source="MONDO:equivalentTo"}
xref: MEDGEN:1813022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619835 {source="MONDO:equivalentTo"}
xref: UMLS:C5676967 {source="MEDGEN:1813022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017359 {source="OMIM:619835"} ! 3-methylglutaconic aciduria

[Term]
id: MONDO:0859238
name: hypoalphalipoproteinemia, primary, 2, intermediate
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1801755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619836 {source="MONDO:equivalentTo"}
xref: UMLS:C5677030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801755"}
is_a: MONDO:0032766 {source="OMIM:619836"} ! hypoalphalipoproteinemia, primary, 2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0859239
name: Chilton-Okur-Chung neurodevelopmental syndrome
xref: MEDGEN:1803276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619841 {source="MONDO:equivalentTo"}
xref: UMLS:C5677022 {source="MEDGEN:1803276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619841"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859240
name: intellectual developmental disorder with or without peripheral neuropathy
xref: MEDGEN:1807523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619844 {source="MONDO:equivalentTo"}
xref: UMLS:C5676969 {source="MEDGEN:1807523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619844"} ! hereditary disease

[Term]
id: MONDO:0859241
name: neurodegeneration, childhood-onset, with progressive microcephaly
xref: MEDGEN:1801540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619847 {source="MONDO:equivalentTo"}
xref: UMLS:C5676972 {source="MEDGEN:1801540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="OMIM:619847"} ! neurodegenerative disease

[Term]
id: MONDO:0859242
name: leukodystrophy, hypomyelinating, 24
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070406 {source="MONDO:equivalentTo"}
xref: MEDGEN:1805365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619851 {source="MONDO:equivalentTo"}
xref: UMLS:C5676974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805365"}
is_a: MONDO:0019046 {source="OMIM:619851"} ! leukodystrophy

[Term]
id: MONDO:0859243
name: neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
xref: MEDGEN:1812577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619854 {source="MONDO:equivalentTo"}
xref: UMLS:C5676975 {source="MONDO:equivalentTo", source="MEDGEN:1812577", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619854"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859244
name: phosphoribosylaminoimidazole carboxylase deficiency
xref: MEDGEN:713858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619859 {source="MONDO:equivalentTo"}
xref: UMLS:C1291561 {source="MEDGEN:713858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:619859"} ! hereditary disease

[Term]
id: MONDO:0859245
name: spinocerebellar ataxia, autosomal recessive 32
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070413 {source="MONDO:equivalentTo"}
xref: MEDGEN:1802496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619862 {source="MONDO:equivalentTo"}
xref: UMLS:C5676978 {source="MEDGEN:1802496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015244 {source="OMIM:619862"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0859246
name: leukodystrophy, childhood-onset, remitting
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1804145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619864 {source="MONDO:equivalentTo"}
xref: UMLS:C5676979 {source="MEDGEN:1804145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="OMIM:619864"} ! leukodystrophy

[Term]
id: MONDO:0859247
name: neurocardiofaciodigital syndrome
xref: MEDGEN:1804193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619869 {source="MONDO:equivalentTo"}
xref: UMLS:C5677020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804193"}
is_a: MONDO:0003847 {source="OMIM:619869"} ! hereditary disease

[Term]
id: MONDO:0859248
name: corneal dystrophy, punctiform and polychromatic pre-descemet
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1806182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619871 {source="MONDO:equivalentTo"}
xref: UMLS:C5676982 {source="MEDGEN:1806182", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018102 {source="OMIM:619871"} ! corneal dystrophy

[Term]
id: MONDO:0859249
name: parenti-mignot neurodevelopmental syndrome
xref: MEDGEN:1808333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619873 {source="MONDO:equivalentTo"}
xref: UMLS:C5676984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808333"}
is_a: MONDO:0700092 {source="OMIM:619873"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859250
name: neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
xref: MEDGEN:1810140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619876 {source="MONDO:equivalentTo"}
xref: UMLS:C5676986 {source="MEDGEN:1810140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619876"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859251
name: Dentici-Novelli neurodevelopmental syndrome
xref: MEDGEN:1810366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619877 {source="MONDO:equivalentTo"}
xref: UMLS:C5676987 {source="MONDO:equivalentTo", source="MEDGEN:1810366", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619877"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859252
name: neurodevelopmental disorder with poor growth and skeletal anomalies
xref: MEDGEN:1804653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619880 {source="MONDO:equivalentTo"}
xref: UMLS:C5676990 {source="MEDGEN:1804653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:619880"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859253
name: osteoporosis, childhood- or juvenile-onset, with developmental delay
xref: MEDGEN:1802083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619884 {source="MONDO:equivalentTo"}
xref: UMLS:C5676992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802083"}
is_a: MONDO:0003847 {source="OMIM:619884"} ! hereditary disease

[Term]
id: MONDO:0859254
name: hepatorenocardiac degenerative fibrosis
xref: MEDGEN:1808950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619902 {source="MONDO:equivalentTo"}
xref: UMLS:C5676996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808950"}
is_a: MONDO:0003847 {source="OMIM:619902"} ! hereditary disease

[Term]
id: MONDO:0859255
name: peripheral motor neuropathy, childhood-onset, biotin-responsive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1809728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619903 {source="MONDO:equivalentTo"}
xref: UMLS:C5676997 {source="MONDO:equivalentTo", source="MEDGEN:1809728", source="MONDO:MEDGEN"}
is_a: MONDO:0002316 {source="OMIM:619903"} ! motor peripheral neuropathy

[Term]
id: MONDO:0859256
name: neurodevelopmental disorder with language delay and seizures
xref: DOID:0070444 {source="MONDO:equivalentTo"}
xref: MEDGEN:1805816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619908 {source="MONDO:equivalentTo"}
xref: UMLS:C5676998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805816"}
is_a: MONDO:0700092 {source="OMIM:619908"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859257
name: intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
xref: MEDGEN:1805453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619911 {source="MONDO:equivalentTo"}
xref: UMLS:C5677001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805453"}
is_a: MONDO:0003847 {source="OMIM:619911"} ! hereditary disease

[Term]
id: MONDO:0859258
name: neurodevelopmental disorder with dystonia and seizures
xref: MEDGEN:1804461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619922 {source="MONDO:equivalentTo"}
xref: UMLS:C5677004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804461"}
is_a: MONDO:0700092 {source="OMIM:619922"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859260
name: Dworschak-Punetha neurodevelopmental syndrome
xref: MEDGEN:1800957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619955 {source="MONDO:equivalentTo"}
xref: UMLS:C5677017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800957"}
is_a: MONDO:0700092 {source="OMIM:619955"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859261
name: attention deficit-hyperactivity disorder 8
xref: MEDGEN:1808030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619957 {source="MONDO:equivalentTo"}
xref: UMLS:C5677018 {source="MEDGEN:1808030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007743 {source="OMIM:619957"} ! attention deficit-hyperactivity disorder

[Term]
id: MONDO:0859262
name: ACCES syndrome
synonym: "aplasia cutis congenita with ectrodactyly skeletal syndrome" EXACT [OMIM:619959]
xref: MEDGEN:1804308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619959 {source="MONDO:equivalentTo"}
xref: UMLS:C5677019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804308"}
is_a: MONDO:0003847 {source="OMIM:619959"} ! hereditary disease

[Term]
id: MONDO:0859263
name: developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
xref: MEDGEN:1811329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619964 {source="MONDO:equivalentTo"}
xref: UMLS:C5575272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811329"}
is_a: MONDO:0003847 {source="OMIM:619964"} ! hereditary disease

[Term]
id: MONDO:0859264
name: congenital myopathy 11
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:462881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619967 {source="MONDO:equivalentTo"}
xref: UMLS:C3151531 {source="MONDO:equivalentTo", source="MEDGEN:462881", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:619967"} ! congenital myopathy

[Term]
id: MONDO:0859265
name: neurodevelopmental disorder with epilepsy and brain atrophy
xref: MEDGEN:1823957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619971 {source="MONDO:equivalentTo"}
xref: UMLS:C5774184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823957"}
is_a: MONDO:0700092 {source="OMIM:619971"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859266
name: neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
xref: MEDGEN:1823958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619972 {source="MONDO:equivalentTo"}
xref: UMLS:C5774185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823958"}
is_a: MONDO:0700092 {source="OMIM:619972"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859267
name: tumor predisposition syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1823959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619975 {source="MONDO:equivalentTo"}
xref: UMLS:C5774186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823959"}
is_a: MONDO:0015356 {source="OMIM:619975"} ! hereditary neoplastic syndrome

[Term]
id: MONDO:0859271
name: glycosylphosphatidylinositol biosynthesis defect 25
xref: MEDGEN:1823964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619985 {source="MONDO:equivalentTo"}
xref: UMLS:C5774191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823964"}
is_a: MONDO:0024321 {source="OMIM:619985"} ! disorder of GPI anchor biosynthesis

[Term]
id: MONDO:0859272
name: neurodevelopmental disorder with speech delay and variable ocular anomalies
xref: MEDGEN:1823967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619989 {source="MONDO:equivalentTo"}
xref: UMLS:C5774194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823967"}
is_a: MONDO:0700092 {source="OMIM:619989"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859273
name: liver disease, severe congenital
xref: MEDGEN:1823968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619991 {source="MONDO:equivalentTo"}
xref: UMLS:C5774195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823968"}
is_a: MONDO:0005154 {source="OMIM:619991"} ! liver disorder

[Term]
id: MONDO:0859274
name: neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
xref: MEDGEN:1823969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619995 {source="MONDO:equivalentTo"}
xref: UMLS:C5774196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823969"}
is_a: MONDO:0700092 {source="OMIM:619995"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859275
name: neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
xref: MEDGEN:1823970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620001 {source="MONDO:equivalentTo"}
xref: UMLS:C5774197 {source="MEDGEN:1823970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620001"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859276
name: primordial dwarfism-immunodeficiency-lipodystrophy syndrome
xref: MEDGEN:1823971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620005 {source="MONDO:equivalentTo"}
xref: UMLS:C5774198 {source="MEDGEN:1823971", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620005"} ! hereditary disease

[Term]
id: MONDO:0859277
name: intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
xref: MEDGEN:1823972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620007 {source="MONDO:equivalentTo"}
xref: UMLS:C5774199 {source="MEDGEN:1823972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620007"} ! hereditary disease

[Term]
id: MONDO:0859278
name: keratoderma-ichthyosis-deafness syndrome, autosomal recessive
xref: MEDGEN:1823973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620009 {source="MONDO:equivalentTo"}
xref: UMLS:C5774200 {source="MONDO:equivalentTo", source="MEDGEN:1823973", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620009"} ! hereditary disease

[Term]
id: MONDO:0859279
name: spinal muscular atrophy, distal, autosomal recessive, 6
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "DSMA6" EXACT ABBREVIATION [OMIM:620011]
xref: DOID:0081425 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620011 {source="MONDO:equivalentTo"}
xref: UMLS:C5774201 {source="MEDGEN:1823974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015363 {source="OMIM:620011"} ! neuronopathy, distal hereditary motor, autosomal recessive

[Term]
id: MONDO:0859280
name: developmental delay, hypotonia, and impaired language
xref: DOID:0070420 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620012 {source="MONDO:equivalentTo"}
xref: UMLS:C5774202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823975"}
is_a: MONDO:0003847 {source="OMIM:620012"} ! hereditary disease

[Term]
id: MONDO:0859281
name: intellectual developmental disorder with autism and dysmorphic facies
xref: MEDGEN:1823979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620021 {source="MONDO:equivalentTo"}
xref: UMLS:C5774206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823979"}
is_a: MONDO:0003847 {source="OMIM:620021"} ! hereditary disease

[Term]
id: MONDO:0859282
name: neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
xref: MEDGEN:1823981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620023 {source="MONDO:equivalentTo"}
xref: UMLS:C5774208 {source="MEDGEN:1823981", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620023"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859283
name: neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
xref: MEDGEN:1823982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620024 {source="MONDO:equivalentTo"}
xref: UMLS:C5774209 {source="MEDGEN:1823982", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620024"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859285
name: neurodevelopmental disorder with microcephaly, short stature, and speech delay
xref: MEDGEN:1823984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620027 {source="MONDO:equivalentTo"}
xref: UMLS:C5774211 {source="MONDO:equivalentTo", source="MEDGEN:1823984", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620027"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859286
name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
xref: DOID:0070536 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620029 {source="MONDO:equivalentTo"}
xref: UMLS:C5774213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823986"}
is_a: MONDO:0700092 {source="OMIM:620029"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859287
name: neurodevelopmental disorder with microcephaly, hypotonia, and absent language
xref: MEDGEN:1823989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620038 {source="MONDO:equivalentTo"}
xref: UMLS:C5774216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823989"}
is_a: MONDO:0700092 {source="OMIM:620038"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859288
name: bone marrow failure and diabetes mellitus syndrome
xref: MEDGEN:1823991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620044 {source="MONDO:equivalentTo"}
xref: UMLS:C5774218 {source="MEDGEN:1823991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620044"} ! hereditary disease

[Term]
id: MONDO:0859289
name: intestinal dysmotility syndrome
xref: MEDGEN:1823992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620045 {source="MONDO:equivalentTo"}
xref: UMLS:C5774219 {source="MEDGEN:1823992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005020 {source="OMIM:620045"} ! intestinal disorder

[Term]
id: MONDO:0859290
name: familial apolipoprotein gene cluster deletion syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620058 {source="MONDO:equivalentTo"}
xref: UMLS:C5774318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824091"}
is_a: MONDO:0017773 {source="OMIM:620058"} ! hypoalphalipoproteinemia

[Term]
id: MONDO:0859292
name: developmental delay, behavioral abnormalities, and neuropsychiatric disorders
xref: MEDGEN:1823997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620065 {source="MONDO:equivalentTo"}
xref: UMLS:C5774224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823997"}
is_a: MONDO:0003847 {source="OMIM:620065"} ! hereditary disease

[Term]
id: MONDO:0859293
name: neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
xref: MEDGEN:1823998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620066 {source="MONDO:equivalentTo"}
xref: UMLS:C5774225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823998"}
is_a: MONDO:0700092 {source="OMIM:620066"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859295
name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
xref: DOID:0070479 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620070 {source="MONDO:equivalentTo"}
xref: UMLS:C5774228 {source="MEDGEN:1824001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620070"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859296
name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
xref: DOID:0081324 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620071 {source="MONDO:equivalentTo"}
xref: UMLS:C5774229 {source="MEDGEN:1824002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620071"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859297
name: neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
xref: MEDGEN:1824004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620073 {source="MONDO:equivalentTo"}
xref: UMLS:C5774231 {source="MEDGEN:1824004", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620073"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859298
name: neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
xref: MEDGEN:1824005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620075 {source="MONDO:equivalentTo"}
xref: UMLS:C5774232 {source="MEDGEN:1824005", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620075"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859300
name: neuronopathy, distal hereditary motor, autosomal dominant 10
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "neuronopathy, distal hereditary motor, type X" EXACT [OMIM:620080]
xref: DOID:0081399 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620080 {source="MONDO:equivalentTo"}
xref: UMLS:C5774234 {source="MEDGEN:1824007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015362 {source="OMIM:620080"} ! neuronopathy, distal hereditary motor, autosomal dominant

[Term]
id: MONDO:0859301
name: neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
subset: ordo_disorder {source="Orphanet:662207"}
subset: orphanet_rare {source="Orphanet:662207"}
subset: rare
xref: MEDGEN:1824008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620083 {source="MONDO:equivalentTo"}
xref: Orphanet:662207 {source="MONDO:equivalentTo"}
xref: UMLS:C5774235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824008"}
is_a: MONDO:0700092 {source="OMIM:620083"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859302
name: hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
xref: MEDGEN:1824010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620085 {source="MONDO:equivalentTo"}
xref: UMLS:C5774237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824010"}
is_a: MONDO:0003847 {source="OMIM:620085"} ! hereditary disease

[Term]
id: MONDO:0859303
name: intellectual developmental disorder with ocular anomalies and distinctive facial features
xref: DOID:0081301 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620086 {source="MONDO:equivalentTo"}
xref: UMLS:C5774238 {source="MEDGEN:1824011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620086"} ! hereditary disease

[Term]
id: MONDO:0859304
name: neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
xref: MEDGEN:1824013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620089 {source="MONDO:equivalentTo"}
xref: UMLS:C5774240 {source="MEDGEN:1824013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005559 {source="OMIM:620089"} ! neurodegenerative disease

[Term]
id: MONDO:0859305
name: neurodevelopmental disorder with eye movement abnormalities and ataxia
xref: DOID:0081275 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620094 {source="MONDO:equivalentTo"}
xref: UMLS:C5774241 {source="MEDGEN:1824014", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620094"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859306
name: developmental delay with variable intellectual disability and dysmorphic facies
xref: MEDGEN:1824015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620098 {source="MONDO:equivalentTo"}
xref: UMLS:C5774242 {source="MEDGEN:1824015", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620098"} ! hereditary disease

[Term]
id: MONDO:0859307
name: cleidocranial dysplasia 2
xref: MEDGEN:1824016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620099 {source="MONDO:equivalentTo"}
xref: UMLS:C5774243 {source="MEDGEN:1824016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005516 {source="OMIM:620099"} ! osteochondrodysplasia

[Term]
id: MONDO:0859308
name: retinitis pigmentosa 95
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620102 {source="MONDO:equivalentTo"}
xref: UMLS:C5774244 {source="MONDO:equivalentTo", source="MEDGEN:1824017", source="MONDO:MEDGEN"}
is_a: MONDO:0019200 {source="OMIM:620102"} ! retinitis pigmentosa
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0859309
name: spastic paraplegia 88, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070457 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620106 {source="MONDO:equivalentTo"}
xref: UMLS:C5774247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824020"}
is_a: MONDO:0019064 {source="OMIM:620106"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0859310
name: orofaciodigital syndrome 19
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060960 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620107 {source="MONDO:equivalentTo"}
xref: UMLS:C5774248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824021"}
is_a: MONDO:0003847 {source="OMIM:620107"} ! hereditary disease
is_a: MONDO:0015375 {source="OMIM:620107", source="https://orcid.org/0000-0002-4142-7153"} ! orofaciodigital syndrome

[Term]
id: MONDO:0859311
name: Charcot-Marie-Tooth disease, demyelinating, type 1J
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620111 {source="MONDO:equivalentTo"}
xref: UMLS:C5774249 {source="MEDGEN:1824022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015626 {source="OMIM:620111"} ! Charcot-Marie-Tooth disease

[Term]
id: MONDO:0859312
name: neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
xref: MEDGEN:1824024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620113 {source="MONDO:equivalentTo"}
xref: UMLS:C5774251 {source="MEDGEN:1824024", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620113"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859313
name: neurodevelopmental disorder with speech impairment and with or without seizures
xref: MEDGEN:1824025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620114 {source="MONDO:equivalentTo"}
xref: UMLS:C5774252 {source="MEDGEN:1824025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620114"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859314
name: developmental and epileptic encephalopathy 108
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070394 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620115 {source="MONDO:equivalentTo"}
xref: UMLS:C5774253 {source="MEDGEN:1824026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:620115"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0859316
name: iron overload, susceptibility to
xref: MEDGEN:1814970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620121 {source="MONDO:equivalentTo"}
xref: UMLS:C5703292 {source="MEDGEN:1814970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:620121"} ! inherited disease susceptibility

[Term]
id: MONDO:0859317
name: pseudohypoaldosteronism, type IB2, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620125 {source="MONDO:equivalentTo"}
xref: UMLS:C5774255 {source="MONDO:equivalentTo", source="MEDGEN:1824028", source="MONDO:MEDGEN"}
is_a: MONDO:0018638 {source="OMIM:620125"} ! pseudohypoaldosteronism
relationship: has_characteristic HP:0000007 {source="https://orcid.org/0000-0001-5208-3432"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0859318
name: pseudohypoaldosteronism, type IB3, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620126 {source="MONDO:equivalentTo"}
xref: UMLS:C5774256 {source="MEDGEN:1824029", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018638 {source="OMIM:620126"} ! pseudohypoaldosteronism
relationship: has_characteristic HP:0000007 {source="https://orcid.org/0000-0001-5208-3432"} ! Autosomal recessive inheritance

[Term]
id: MONDO:0859319
name: dyskeratosis congenita, autosomal recessive 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620133 {source="MONDO:equivalentTo"}
xref: UMLS:C5774257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824030"}
is_a: MONDO:0015780 {source="OMIM:620133"} ! dyskeratosis congenita

[Term]
id: MONDO:0859320
name: mitochondrial complex I deficiency, nuclear type 39
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620135 {source="MONDO:equivalentTo"}
xref: UMLS:C5774258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824031"}
is_a: MONDO:0100223 {source="OMIM:620135"} ! mitochondrial complex I deficiency, nuclear type

[Term]
id: MONDO:0859321
name: mitochondrial complex 3 deficiency, nuclear type 11
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620137 {source="MONDO:equivalentTo"}
xref: UMLS:C5774259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824032"}
is_a: MONDO:0020811 {source="OMIM:620137"} ! mitochondrial complex III deficiency, nuclear type

[Term]
id: MONDO:0859322
name: myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
xref: MEDGEN:1824033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620138 {source="MONDO:equivalentTo"}
xref: UMLS:C5774260 {source="MEDGEN:1824033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620138"} ! hereditary disease

[Term]
id: MONDO:0859323
name: combined oxidative phosphorylation deficiency 56
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070429 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620139 {source="MONDO:equivalentTo"}
xref: UMLS:C5774261 {source="MEDGEN:1824034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:620139"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0859324
name: developmental delay, language impairment, and ocular abnormalities
xref: MEDGEN:1824035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620141 {source="MONDO:equivalentTo"}
xref: UMLS:C5774262 {source="MEDGEN:1824035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620141"} ! hereditary disease

[Term]
id: MONDO:0859325
name: developmental and epileptic encephalopathy 109
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070378 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620145 {source="MONDO:equivalentTo"}
xref: UMLS:C5774263 {source="MEDGEN:1824036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:620145"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0859327
name: developmental and epileptic encephalopathy 110
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070395 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620149 {source="MONDO:equivalentTo"}
xref: UMLS:C5774265 {source="MEDGEN:1824038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:620149"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0859328
name: hypomagnesemia 7, renal, with or without dilated cardiomyopathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620152 {source="MONDO:equivalentTo"}
xref: UMLS:C5774266 {source="MONDO:equivalentTo", source="MEDGEN:1824039", source="MONDO:MEDGEN"}
is_a: MONDO:0018100 {source="OMIM:620152"} ! familial primary hypomagnesemia

[Term]
id: MONDO:0859329
name: mosaic variegated aneuploidy syndrome 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620153 {source="MONDO:equivalentTo"}
xref: UMLS:C5774267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824040"}
is_a: MONDO:0000141 {source="OMIM:620153"} ! mosaic variegated aneuploidy syndrome

[Term]
id: MONDO:0859330
name: oocyte maturation defect 13
xref: MEDGEN:1824041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620154 {source="MONDO:equivalentTo"}
xref: UMLS:C5774268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824041"}
is_a: MONDO:0014769 {source="OMIM:620154"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0859331
name: Rabin-Pappas syndrome
xref: MEDGEN:1824042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620155 {source="MONDO:equivalentTo"}
xref: UMLS:C5774269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824042"}
is_a: MONDO:0003847 {source="OMIM:620155"} ! hereditary disease

[Term]
id: MONDO:0859332
name: cortical dysplasia, complex, with other brain malformations 11
xref: MEDGEN:1824043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620156 {source="MONDO:equivalentTo"}
xref: UMLS:C5774270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824043"}
is_a: MONDO:0000904 {source="OMIM:620156"} ! complex cortical dysplasia with other brain malformations

[Term]
id: MONDO:0859333
name: intellectual developmental disorder, autosomal dominant 70
xref: MEDGEN:1824044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620157 {source="MONDO:equivalentTo"}
xref: UMLS:C5774271 {source="MEDGEN:1824044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="OMIM:620157"} ! intellectual disability, autosomal dominant
is_a: MONDO:0800477 {source="https://clinicalgenome.org/affiliation/40006/"} ! SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6599" xsd:anyURI

[Term]
id: MONDO:0859334
name: spinocerebellar ataxia 50
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620158 {source="MONDO:equivalentTo"}
xref: UMLS:C5774272 {source="MEDGEN:1824045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020380 {source="OMIM:620158"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0859335
name: congenital myopathy 15
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081347 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620161 {source="MONDO:equivalentTo"}
xref: UMLS:C5774273 {source="MEDGEN:1824046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:620161"} ! congenital myopathy

[Term]
id: MONDO:0859336
name: muscular dystrophy, congenital, with or without seizures
xref: MEDGEN:1824047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620166 {source="MONDO:equivalentTo"}
xref: UMLS:C5774274 {source="MEDGEN:1824047", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620166"} ! hereditary disease

[Term]
id: MONDO:0859337
name: combined oxidative phosphorylation deficiency 57
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070430 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620167 {source="MONDO:equivalentTo"}
xref: UMLS:C5774275 {source="MEDGEN:1824048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:620167"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0859338
name: spermatogenic failure 78
xref: MEDGEN:1824049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620170 {source="MONDO:equivalentTo"}
xref: UMLS:C5774276 {source="MEDGEN:1824049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:620170"} ! spermatogenic failure

[Term]
id: MONDO:0859339
name: tooth agenesis, selective, 10
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620173 {source="MONDO:equivalentTo"}
xref: UMLS:C5774277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824050"}
is_a: MONDO:0005486 {source="OMIM:620173"} ! tooth agenesis

[Term]
id: MONDO:0859340
name: spinocerebellar ataxia 27B, late-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620174 {source="MONDO:equivalentTo"}
xref: UMLS:C5774278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824051"}
is_a: MONDO:0020380 {source="OMIM:620174"} ! autosomal dominant cerebellar ataxia

[Term]
id: MONDO:0859341
name: hypotrichosis 15
xref: DOID:0060968 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620177 {source="MONDO:equivalentTo"}
xref: UMLS:C5774279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824052"}
is_a: MONDO:0003037 {source="OMIM:620177"} ! hypotrichosis

[Term]
id: MONDO:0859342
name: microcephaly 30, primary, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620183 {source="MONDO:equivalentTo"}
xref: UMLS:C5774280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824053"}
is_a: MONDO:0016660 {source="OMIM:620183"} ! autosomal recessive primary microcephaly

[Term]
id: MONDO:0859345
name: branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
subset: obsoletion_candidate
xref: MEDGEN:1824056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620186 {source="MONDO:equivalentTo"}
xref: UMLS:C5774283 {source="MEDGEN:1824056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620186"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7560" xsd:anyURI
property_value: IAO:0006012 "2024-07-01" xsd:string

[Term]
id: MONDO:0859346
name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620189 {source="MONDO:equivalentTo"}
xref: UMLS:C5774284 {source="MEDGEN:1824057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000141 {source="OMIM:620189"} ! mosaic variegated aneuploidy syndrome

[Term]
id: MONDO:0859347
name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
xref: MEDGEN:1824058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620191 {source="MONDO:equivalentTo"}
xref: UMLS:C5774285 {source="MEDGEN:1824058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620191"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859350
name: neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
xref: MEDGEN:1824061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620194 {source="MONDO:equivalentTo"}
xref: UMLS:C5774288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824061"}
is_a: MONDO:0700092 {source="OMIM:620194"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859351
name: obesity and hypopigmentation
xref: MEDGEN:1824062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620195 {source="MONDO:equivalentTo"}
xref: UMLS:C5774289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824062"}
is_a: MONDO:0003847 {source="OMIM:620195"} ! hereditary disease

[Term]
id: MONDO:0859352
name: spermatogenic failure 79
xref: MEDGEN:1824063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620196 {source="MONDO:equivalentTo"}
xref: UMLS:C5774290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824063"}
is_a: MONDO:0004983 {source="OMIM:620196"} ! spermatogenic failure

[Term]
id: MONDO:0859353
name: ciliary dyskinesia, primary, 49, without situs inversus
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620197 {source="MONDO:equivalentTo"}
xref: UMLS:C5774291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824064"}
is_a: MONDO:0016575 {source="OMIM:620197"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0859354
name: thyroid hormone metabolism, abnormal, 3
xref: MEDGEN:1824065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620198 {source="MONDO:equivalentTo"}
xref: UMLS:C5774292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824065"}
is_a: MONDO:0031432 {source="OMIM:620198"} ! thyroid hormone metabolism, abnormal

[Term]
id: MONDO:0859355
name: inflammatory poikiloderma with hair abnormalities and acral keratoses
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070510 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620199 {source="MONDO:equivalentTo"}
xref: UMLS:C5774293 {source="MEDGEN:1824066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016382 {source="OMIM:620199"} ! hereditary poikiloderma

[Term]
id: MONDO:0859356
name: congenital disorder of glycosylation, type IIy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620200 {source="MONDO:equivalentTo"}
xref: UMLS:C5774294 {source="MEDGEN:1824067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="OMIM:620200"} ! congenital disorder of glycosylation type II

[Term]
id: MONDO:0859357
name: congenital disorder of glycosylation, type IIz
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620201 {source="MONDO:equivalentTo"}
xref: UMLS:C5774295 {source="MEDGEN:1824068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="OMIM:620201"} ! congenital disorder of glycosylation type II

[Term]
id: MONDO:0859358
name: cardiomyopathy, dilated, 2H
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620203 {source="MONDO:equivalentTo"}
xref: UMLS:C5774296 {source="MEDGEN:1824069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="OMIM:620203"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0859360
name: spinocerebellar ataxia, autosomal recessive 33
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070414 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620208 {source="MONDO:equivalentTo"}
xref: UMLS:C5774297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824070"}
is_a: MONDO:0015244 {source="OMIM:620208"} ! autosomal recessive cerebellar ataxia

[Term]
id: MONDO:0859361
name: neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
xref: MEDGEN:1824071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620210 {source="MONDO:equivalentTo"}
xref: UMLS:C5774298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824071"}
is_a: MONDO:0700092 {source="OMIM:620210"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859362
name: hyperinsulinemic hypoglycemia, familial, 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081328 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620211 {source="MONDO:equivalentTo"}
xref: UMLS:C5774299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824072"}
is_a: MONDO:0005803 {source="OMIM:620211"} ! hyperinsulinemic hypoglycemia

[Term]
id: MONDO:0859363
name: spastic paraplegia 79A, autosomal dominant, with ataxia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070455 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620221 {source="MONDO:equivalentTo"}
xref: UMLS:C5774300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824073"}
is_a: MONDO:0019064 {source="OMIM:620221"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0859364
name: spermatogenic failure 80
xref: MEDGEN:1824074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620222 {source="MONDO:equivalentTo"}
xref: UMLS:C5774301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824074"}
is_a: MONDO:0004983 {source="OMIM:620222"} ! spermatogenic failure

[Term]
id: MONDO:0859365
name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
xref: MEDGEN:1840880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620224 {source="MONDO:equivalentTo"}
xref: UMLS:C5830244 {source="MONDO:equivalentTo", source="MEDGEN:1840880", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620224"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859366
name: hearing loss, autosomal dominant 85
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "deafness, autosomal dominant 85" NARROW [OMIM:620227]
xref: MEDGEN:1824075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620227 {source="MONDO:equivalentTo"}
xref: UMLS:C5774302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824075"}
is_a: MONDO:0019587 {source="OMIM:620227"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0859367
name: retinitis pigmentosa 96
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620228 {source="MONDO:equivalentTo"}
xref: UMLS:C5774303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824076"}
is_a: MONDO:0019200 {source="OMIM:620228"} ! retinitis pigmentosa
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0859368
name: short QT syndrome 7
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620231 {source="MONDO:equivalentTo"}
xref: UMLS:C5774304 {source="MEDGEN:1824077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000453 {source="OMIM:620231"} ! short QT syndrome

[Term]
id: MONDO:0859369
name: joint contractures, osteochondromas, and B-cell lymphoma
xref: MEDGEN:1824078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620232 {source="MONDO:equivalentTo"}
xref: UMLS:C5774305 {source="MEDGEN:1824078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620232"} ! hereditary disease

[Term]
id: MONDO:0859370
name: respiratory infections, recurrent, and failure to thrive with or without diarrhea
xref: MEDGEN:1824079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620233 {source="MONDO:equivalentTo"}
xref: UMLS:C5774306 {source="MEDGEN:1824079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620233"} ! hereditary disease

[Term]
id: MONDO:0859371
name: rhabdomyolysis, susceptibility to, 1
xref: MEDGEN:1824080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620235 {source="MONDO:equivalentTo"}
xref: UMLS:C5774307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824080"}
is_a: MONDO:0020573 {source="OMIM:620235"} ! inherited disease susceptibility

[Term]
id: MONDO:0859372
name: cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620236 {source="MONDO:equivalentTo"}
xref: UMLS:C5774308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824081"}
is_a: MONDO:0024573 {source="OMIM:620236"} ! familial hypertrophic cardiomyopathy

[Term]
id: MONDO:0859373
name: intellectual developmental disorder, autosomal recessive 78
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620237 {source="MONDO:equivalentTo"}
xref: UMLS:C5830269 {source="MEDGEN:1840905", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="OMIM:620237"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0859374
name: hearing loss, autosomal recessive 120
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "deafness, autosomal recessive 120" NARROW [OMIM:620238]
xref: MEDGEN:1824082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620238 {source="MONDO:equivalentTo"}
xref: UMLS:C5774309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824082"}
is_a: MONDO:0019588 {source="OMIM:620238"} ! hearing loss, autosomal recessive
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0859375
name: developmental delay with hypotonia, myopathy, and brain abnormalities
xref: MEDGEN:1840906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620240 {source="MONDO:equivalentTo"}
xref: UMLS:C5830270 {source="MEDGEN:1840906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620240"} ! hereditary disease

[Term]
id: MONDO:0859376
name: hydrocephalus, congenital, 5, susceptibility to
xref: MEDGEN:1840908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620241 {source="MONDO:equivalentTo"}
xref: UMLS:C5830272 {source="MEDGEN:1840908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020573 {source="OMIM:620241"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0016349 {source="OMIM:620241", source="https://orcid.org/0000-0001-5208-3432"} ! congenital hydrocephalus

[Term]
id: MONDO:0859377
name: neurodevelopmental disorder with poor growth and behavioral abnormalities
xref: DOID:0081444 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620242 {source="MONDO:equivalentTo"}
xref: UMLS:C5830273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840909"}
is_a: MONDO:0700092 {source="OMIM:620242"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859378
name: leukodystrophy, hypomyelinating, 25
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070401 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620243 {source="MONDO:equivalentTo"}
xref: UMLS:C5830275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840911"}
is_a: MONDO:0019046 {source="OMIM:620243"} ! leukodystrophy

[Term]
id: MONDO:0859379
name: lymphatic malformation 13
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620244 {source="MONDO:equivalentTo"}
xref: UMLS:C5830279 {source="MEDGEN:1840915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019313 {source="OMIM:620244"} ! lymphatic malformation

[Term]
id: MONDO:0859380
name: episodic kinesigenic dyskinesia 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060944 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620245 {source="MONDO:equivalentTo"}
xref: UMLS:C5830280 {source="MEDGEN:1840916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044202 {source="OMIM:620245"} ! episodic kinesigenic dyskinesia
is_a: MONDO:0044807 {source="OMIM:620245"} ! inherited dystonia

[Term]
id: MONDO:0859381
name: cardiomyopathy, dilated, 100
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620247 {source="MONDO:equivalentTo"}
xref: UMLS:C5830291 {source="MEDGEN:1840927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="OMIM:620247"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0859382
name: cataract 50 with or without glaucoma
xref: MEDGEN:1840935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620253 {source="MONDO:equivalentTo"}
xref: UMLS:C5830299 {source="MEDGEN:1840935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005129 {source="OMIM:620253"} ! cataract

[Term]
id: MONDO:0859383
name: ichthyosis hystrix
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
xref: MEDGEN:75527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:146590 {source="MONDO:equivalentTo"}
xref: UMLS:C0263580 {source="MEDGEN:75527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015947 {source="OMIMPS:146590"} ! inherited ichthyosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:146590"} ! inherited

[Term]
id: MONDO:0859390
name: epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:300491 {source="MONDO:equivalentTo"}
is_a: MONDO:0015653 {source="OMIMPS:300491"} ! monogenic epilepsy
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300491"} ! inherited

[Term]
id: MONDO:0859393
name: Atelis syndrome
xref: OMIMPS:620184 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:620184"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:620184"} ! inherited

[Term]
id: MONDO:0859477
name: spermatogenic failure, X-linked, 5
xref: MEDGEN:1840194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301099 {source="MONDO:equivalentTo"}
xref: UMLS:C5829558 {source="MEDGEN:1840194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:301099"} ! spermatogenic failure

[Term]
id: MONDO:0859478
name: spermatogenic failure, X-linked, 6
xref: MEDGEN:1840198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301101 {source="MONDO:equivalentTo"}
xref: UMLS:C5829562 {source="MONDO:equivalentTo", source="MEDGEN:1840198", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:301101"} ! spermatogenic failure

[Term]
id: MONDO:0859514
name: congenital myopathy 18
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081350 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620246 {source="MONDO:equivalentTo"}
xref: UMLS:C5830283 {source="MEDGEN:1840919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:620246"} ! congenital myopathy

[Term]
id: MONDO:0859515
name: congenital myopathy 10b, mild variant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081345 {source="MONDO:equivalentTo"}
xref: MEDGEN:762102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620249 {source="MONDO:equivalentTo"}
xref: UMLS:C3541476 {source="MEDGEN:762102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:620249"} ! congenital myopathy

[Term]
id: MONDO:0859516
name: neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
xref: MEDGEN:1840932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620250 {source="MONDO:equivalentTo"}
xref: UMLS:C5830296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840932"}
is_a: MONDO:0700092 {source="OMIM:620250"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859517
name: congenital myopathy 2b, severe infantile, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081339 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620265 {source="MONDO:equivalentTo"}
xref: UMLS:C5830300 {source="MEDGEN:1840936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:620265"} ! congenital myopathy

[Term]
id: MONDO:0859518
name: leukodystrophy, hypomyelinating, 26, with chondrodysplasia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070403 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620269 {source="MONDO:equivalentTo"}
xref: UMLS:C5830312 {source="MEDGEN:1840948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019046 {source="OMIM:620269"} ! leukodystrophy

[Term]
id: MONDO:0859519
name: neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
xref: MEDGEN:1840955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620270 {source="MONDO:equivalentTo"}
xref: UMLS:C5830319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840955"}
is_a: MONDO:0700092 {source="OMIM:620270"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859520
name: mitochondrial complex IV deficiency, nuclear type 23
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070485 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620275 {source="MONDO:equivalentTo"}
xref: UMLS:C5830322 {source="MEDGEN:1840958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0033885 {source="OMIM:620275"} ! mitochondrial complex IV deficiency, nuclear-type

[Term]
id: MONDO:0859521
name: oocyte maturation defect 14
xref: MEDGEN:1840962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620276 {source="MONDO:equivalentTo"}
xref: UMLS:C5830326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840962"}
is_a: MONDO:0014769 {source="OMIM:620276"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0859522
name: spermatogenic failure 81
xref: MEDGEN:1840965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620277 {source="MONDO:equivalentTo"}
xref: UMLS:C5830329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840965"}
is_a: MONDO:0004983 {source="OMIM:620277"} ! spermatogenic failure

[Term]
id: MONDO:0859523
name: congenital myopathy 2c, severe infantile, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081340 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620278 {source="MONDO:equivalentTo"}
xref: UMLS:C5830333 {source="MEDGEN:1840969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:620278"} ! congenital myopathy

[Term]
id: MONDO:0859524
name: hearing loss, autosomal dominant 86
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620280 {source="MONDO:equivalentTo"}
xref: UMLS:C5830340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840976"}
is_a: MONDO:0019587 {source="OMIM:620280"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0859525
name: hearing loss, autosomal dominant 87
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620281 {source="MONDO:equivalentTo"}
xref: UMLS:C5830342 {source="MEDGEN:1840978", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="OMIM:620281"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0859526
name: immunodeficiency 109 with lymphoproliferation
xref: MEDGEN:1840982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620282 {source="MONDO:equivalentTo"}
xref: UMLS:C5830346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840982"}
is_a: MONDO:0021094 {source="OMIM:620282"} ! immunodeficiency disease

[Term]
id: MONDO:0859527
name: hearing loss, autosomal dominant 88
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620283 {source="MONDO:equivalentTo"}
xref: UMLS:C5830355 {source="MEDGEN:1840991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019587 {source="OMIM:620283"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0859528
name: hearing loss, autosomal dominant 89
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620284 {source="MONDO:equivalentTo"}
xref: UMLS:C5830357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840993"}
is_a: MONDO:0019587 {source="OMIM:620284"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0859529
name: amyotrophic lateral sclerosis 27, juvenile
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081381 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620285 {source="MONDO:equivalentTo"}
xref: UMLS:C5830359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840995"}
is_a: MONDO:0005144 {source="OMIM:620285"} ! familial amyotrophic lateral sclerosis

[Term]
id: MONDO:0859530
name: myopathy, sarcoplasmic body
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620286 {source="MONDO:equivalentTo"}
xref: UMLS:C5830362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840998"}
is_a: MONDO:0005336 {source="OMIM:620286"} ! myopathy

[Term]
id: MONDO:0859531
name: neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
xref: MEDGEN:1841001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620292 {source="MONDO:equivalentTo"}
xref: UMLS:C5830365 {source="MONDO:equivalentTo", source="MEDGEN:1841001", source="MONDO:MEDGEN"}
is_a: MONDO:0700092 {source="OMIM:620292"} ! neurodevelopmental disorder

[Term]
id: MONDO:0859532
name: congenital heart defects, multiple types, 9
xref: MEDGEN:1841003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620294 {source="MONDO:equivalentTo"}
xref: UMLS:C5830367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841003"}
is_a: MONDO:0000119 {source="OMIM:620294"} ! congenital heart defects, multiple types

[Term]
id: MONDO:0859564
name: epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1823952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301091 {source="MONDO:equivalentTo"}
xref: UMLS:C5774178 {source="MEDGEN:1823952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0859390 {source="OMIM:301091"} ! epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features

[Term]
id: MONDO:0859565
name: atrioventricular septal defect
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:501123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:606215 {source="MONDO:equivalentTo"}
xref: UMLS:C1389018 {source="MEDGEN:501123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020290 {source="OMIM:606215"} ! familial atrioventricular septal defect

[Term]
id: MONDO:0859567
name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
xref: DOID:0081125 {source="MONDO:equivalentTo"}
xref: MEDGEN:1803802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616994 {source="MONDO:equivalentTo"}
xref: UMLS:C5676895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803802"}
is_a: MONDO:0031329 {source="OMIM:616994"} ! craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome

[Term]
id: MONDO:0859568
name: macular dystrophy, retinal, 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070441 {source="MONDO:equivalentTo"}
xref: MEDGEN:1823960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619977 {source="MONDO:equivalentTo"}
xref: UMLS:C5774187 {source="MEDGEN:1823960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031166 {source="OMIM:619977"} ! macular dystrophy, retinal

[Term]
id: MONDO:0859569
name: braddock-carey syndrome 1
xref: MEDGEN:1823961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619980 {source="MONDO:equivalentTo"}
xref: UMLS:C5774188 {source="MEDGEN:1823961", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0031646 {source="OMIM:619980"} ! Braddock-Carey syndrome

[Term]
id: MONDO:0859570
name: braddock-carey syndrome 2
xref: MEDGEN:1823962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619981 {source="MONDO:equivalentTo"}
xref: UMLS:C5774189 {source="MONDO:equivalentTo", source="MEDGEN:1823962", source="MONDO:MEDGEN"}
is_a: MONDO:0031646 {source="OMIM:619981"} ! Braddock-Carey syndrome

[Term]
id: MONDO:0859571
name: diaphragmatic hernia 4, with cardiovascular defects
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1823983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620025 {source="MONDO:equivalentTo"}
xref: UMLS:C5774210 {source="MEDGEN:1823983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005711 {source="OMIM:620025"} ! congenital diaphragmatic hernia

[Term]
id: MONDO:0859572
name: cardiac valvular dysplasia 2
xref: MEDGEN:1823999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620067 {source="MONDO:equivalentTo"}
xref: UMLS:C5774226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823999"}
is_a: MONDO:0031323 {source="OMIM:620067"} ! cardiac valvular defect

[Term]
id: MONDO:0859573
name: bent bone dysplasia syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: MEDGEN:1824006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620076 {source="MONDO:equivalentTo"}
xref: UMLS:C5774233 {source="MONDO:equivalentTo", source="MEDGEN:1824006", source="MONDO:MEDGEN"}
is_a: MONDO:0031615 {source="OMIM:620076"} ! familial bent bone dysplasia syndrome

[Term]
id: MONDO:0859574
name: ichthyosis, annular epidermolytic, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620148 {source="MONDO:equivalentTo"}
xref: UMLS:C5774264 {source="MEDGEN:1824037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011870 {source="OMIM:620148"} ! annular epidermolytic ichthyosis

[Term]
id: MONDO:0859575
name: Atelis syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620184 {source="MONDO:equivalentTo"}
xref: UMLS:C5774281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824054"}
is_a: MONDO:0000141 {source="OMIM:620184"} ! mosaic variegated aneuploidy syndrome
is_a: MONDO:0859393 {source="OMIM:620184"} ! Atelis syndrome

[Term]
id: MONDO:0859576
name: Atelis syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1824055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620185 {source="MONDO:equivalentTo"}
xref: UMLS:C5774282 {source="MEDGEN:1824055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000141 {source="OMIM:620185"} ! mosaic variegated aneuploidy syndrome
is_a: MONDO:0859393 {source="OMIM:620185"} ! Atelis syndrome

[Term]
id: MONDO:0859577
name: lacrimoauriculodentodigital syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081371 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620192 {source="MONDO:equivalentTo"}
xref: UMLS:C5774286 {source="MEDGEN:1824059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007872 {source="OMIM:620192"} ! LADD syndrome

[Term]
id: MONDO:0859578
name: lacrimoauriculodentodigital syndrome 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081372 {source="MONDO:equivalentTo"}
xref: MEDGEN:1824060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620193 {source="MONDO:equivalentTo"}
xref: UMLS:C5774287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824060"}
is_a: MONDO:0007872 {source="OMIM:620193"} ! LADD syndrome

[Term]
id: MONDO:0859588
name: keratosis pilaris atrophicans faciei
def: "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area." [DOID:0080752]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080752 {source="MONDO:equivalentTo"}
is_a: MONDO:0018855 {source="DOID:0080752"} ! keratosis pilaris atrophicans

[Term]
id: MONDO:0859591
name: childhood low-grade glioma
def: "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology." [DOID:0080830]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080830 {source="MONDO:equivalentTo"}
is_a: MONDO:0021637 {source="DOID:0080830"} ! low grade glioma

[Term]
id: MONDO:0859592
name: IDH-mutant and 1p/19q-codeleted oligodendroglioma
def: "An anaplastic oligodendroglioma that has material basis in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion)." [DOID:0080882]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080882 {source="MONDO:equivalentTo"}
xref: MEDGEN:926090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4288558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:926090"}
is_a: MONDO:0016696 {source="DOID:0080882"} ! anaplastic oligodendroglioma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0859597
name: cns neuroblastoma with FOXR2 activation
def: "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo." [DOID:0080906]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080906 {source="MONDO:equivalentTo"}
is_a: MONDO:0002900 {source="DOID:0080906"} ! cerebral neuroblastoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0859598
name: erythroleukemia
def: "An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." [DOID:0080916]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080916 {source="MONDO:equivalentTo"}
xref: MEDGEN:1614281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4520840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1614281"}
is_a: MONDO:0017858 {source="DOID:0080916"} ! acute erythroid leukemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0859614
name: diffuse low-grade glioma, MAPK pathway–altered
def: "A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma." [DOID:0081260]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081260 {source="MONDO:equivalentTo"}
is_a: MONDO:0021637 {source="DOID:0081260"} ! low grade glioma

[Term]
id: MONDO:0859615
name: diffuse astrocytoma, MYB- or MYBL1-altered
def: "A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1." [DOID:0081279]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081279 {source="MONDO:equivalentTo"}
is_a: MONDO:0016686 {source="DOID:0081279"} ! diffuse astrocytoma

[Term]
id: MONDO:0859689
name: hepatobiliary benign neoplasm
xref: DOID:3117 {source="MONDO:equivalentTo"}
is_a: MONDO:0000385 {source="DOID:3117"} ! benign digestive system neoplasm

[Term]
id: MONDO:0859690
name: malignant cystadenoma
xref: DOID:60004 {source="MONDO:equivalentTo"}
is_a: MONDO:0850125 {source="DOID:60004"} ! malignant adenoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0859692
name: immune-mediated cerebellar ataxia
subset: gard_rare {source="GARD:22494", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:623638"}
subset: rare
xref: GARD:22494 {source="MONDO:GARD"}
xref: MEDGEN:1814462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:623638 {source="MONDO:equivalentTo"}
xref: UMLS:C5680410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1814462"}
is_a: MONDO:0016593 {source="Orphanet:623638", source="https://orcid.org/0000-0001-5208-3432"} ! acquired ataxia

[Term]
id: MONDO:0859747
name: grade I lymphomatoid granulomatosis
def: "A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen." [DOID:0081308]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081308 {source="MONDO:equivalentTo"}
xref: MEDGEN:83443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0279065 {source="MEDGEN:83443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019466 {source="DOID:0081308"} ! lymphomatoid granulomatosis

[Term]
id: MONDO:0859748
name: grade II lymphomatoid granulomatosis
def: "A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen." [DOID:0081309]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081309 {source="MONDO:equivalentTo"}
xref: MEDGEN:167833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0862090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:167833"}
is_a: MONDO:0019466 {source="DOID:0081309"} ! lymphomatoid granulomatosis

[Term]
id: MONDO:0859749
name: grade III lymphomatoid granulomatosis
def: "A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive." [DOID:0081310]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081310 {source="MONDO:equivalentTo"}
xref: MEDGEN:78928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0279067 {source="MEDGEN:78928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019466 {source="DOID:0081310"} ! lymphomatoid granulomatosis

[Term]
id: MONDO:0859761
name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:633021"}
subset: rare
xref: MEDGEN:1843402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:633021 {source="MONDO:equivalentTo"}
xref: UMLS:C5816804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843402"}
is_a: MONDO:0859000 {source="Orphanet:633021", source="https://orcid.org/0000-0001-5208-3432"} ! SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

[Term]
id: MONDO:0859762
name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:633024"}
subset: rare
xref: MEDGEN:1843413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:633024 {source="MONDO:equivalentTo"}
xref: UMLS:C5816805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843413"}
is_a: MONDO:0859000 {source="Orphanet:633024", source="https://orcid.org/0000-0001-5208-3432"} ! SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

[Term]
id: MONDO:0859763
name: mosaic neurofibromatosis type 1
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:634461"}
subset: orphanet_rare {source="Orphanet:634461"}
subset: rare
xref: MEDGEN:1843428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:634461 {source="MONDO:equivalentTo"}
xref: UMLS:C5782097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843428"}
is_a: MONDO:0859008 {source="Orphanet:634461", source="https://orcid.org/0000-0001-5208-3432"} ! neurofibromatosis/schwannomatosis

[Term]
id: MONDO:0859764
name: mosaic NF2-related schwannomatosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:634475"}
subset: orphanet_rare {source="Orphanet:634475"}
subset: rare
xref: MEDGEN:1843426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:634475 {source="MONDO:equivalentTo"}
xref: UMLS:C5816778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843426"}
is_a: MONDO:0859008 {source="Orphanet:634475", source="https://orcid.org/0000-0001-5208-3432"} ! neurofibromatosis/schwannomatosis
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7773 {source="Orphanet:634475", source="https://orcid.org/0000-0001-5208-3432"} ! NF2

[Term]
id: MONDO:0859765
name: mosaic schwannomatosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:634492"}
subset: orphanet_rare {source="Orphanet:634492"}
subset: rare
xref: MEDGEN:1843393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:634492 {source="MONDO:equivalentTo"}
xref: UMLS:C5816779 {source="MEDGEN:1843393", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0859008 {source="Orphanet:634492", source="https://orcid.org/0000-0001-5208-3432"} ! neurofibromatosis/schwannomatosis

[Term]
id: MONDO:0956962
name: benign teratoma
def: "A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements." [DOID:0080602]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080602 {source="MONDO:equivalentTo"}
xref: MEDGEN:361206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1879828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:361206"}
is_a: MONDO:0850144 {source="DOID:0080602"} ! germ cell benign neoplasm
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0956964
name: medulloblastoma SHH activated and TP53 mutant
def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations." [DOID:0080704]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080704 {source="MONDO:equivalentTo"}
is_a: MONDO:0850197 {source="DOID:0080704"} ! medulloblastoma SHH activated

[Term]
id: MONDO:0956965
name: medulloblastoma SHH activated and TP53 wild-type
def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations." [DOID:0080705]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080705 {source="MONDO:equivalentTo"}
is_a: MONDO:0850197 {source="DOID:0080705"} ! medulloblastoma SHH activated

[Term]
id: MONDO:0956966
name: medulloblastoma non-WNT/non-SHH group 3
def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present." [DOID:0080707]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080707 {source="MONDO:equivalentTo"}
is_a: MONDO:0850198 {source="DOID:0080707"} ! medulloblastoma non-WNT/non-SHH

[Term]
id: MONDO:0956967
name: medulloblastoma non-WNT/non-SHH group 4
def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present." [DOID:0080708]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080708 {source="MONDO:equivalentTo"}
is_a: MONDO:0850198 {source="DOID:0080708"} ! medulloblastoma non-WNT/non-SHH

[Term]
id: MONDO:0956969
name: chronic inducible urticaria
def: "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours." [DOID:0080748]
xref: DOID:0080748 {source="MONDO:equivalentTo"}
xref: MEDGEN:1678519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5197720 {source="MEDGEN:1678519", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0850230 {source="DOID:0080748"} ! chronic urticaria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0956971
name: intermittent asthma
def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity." [DOID:0080812]
xref: DOID:0080812 {source="MONDO:equivalentTo"}
xref: MEDGEN:740576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C1740754 {source="MONDO:equivalentTo", source="MEDGEN:740576", source="MONDO:MEDGEN"}
is_a: MONDO:0850282 {source="DOID:0080812"} ! chronic asthma

[Term]
id: MONDO:0956975
name: T2-high asthma
def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease." [DOID:0080817]
xref: DOID:0080817 {source="MONDO:equivalentTo"}
is_a: MONDO:0850282 {source="DOID:0080817"} ! chronic asthma

[Term]
id: MONDO:0956976
name: T2-low asthma
def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy." [DOID:0080818]
xref: DOID:0080818 {source="MONDO:equivalentTo"}
is_a: MONDO:0850282 {source="DOID:0080818"} ! chronic asthma

[Term]
id: MONDO:0956977
name: near-fatal asthma
def: "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation." [DOID:0080823]
xref: DOID:0080823 {source="MONDO:equivalentTo"}
is_a: MONDO:0850283 {source="DOID:0080823"} ! acute asthma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0956979
name: nocturnal asthma
def: "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways." [DOID:0080826]
xref: DOID:0080826 {source="MONDO:equivalentTo"}
is_a: MONDO:0850282 {source="DOID:0080826"} ! chronic asthma

[Term]
id: MONDO:0956980
name: vascular parkinsonism
def: "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin." [DOID:0080856]
xref: DOID:0080856 {source="MONDO:equivalentTo"}
xref: MEDGEN:581453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C0393568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581453"}
is_a: MONDO:0021095 {source="DOID:0080856"} ! parkinsonian disorder

[Term]
id: MONDO:0956981
name: astrocytoma, IDH-mutant, grade 4
def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas." [DOID:0080877]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080877 {source="MONDO:equivalentTo"}
xref: MEDGEN:1718223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5238471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718223"}
is_a: MONDO:0850332 {source="DOID:0080877"} ! IDH-mutant anaplastic astrocytoma

[Term]
id: MONDO:0956983
name: pleomorphic xanthoastrocytoma BRAF mutant
def: "An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations." [DOID:0080881]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080881 {source="MONDO:equivalentTo"}
is_a: MONDO:0850312 {source="DOID:0080881"} ! anaplastic pleomorphic xanthoastrocytoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0956984
name: YAP1-MAMLD1 fusion-positive supratentorial ependymoma
def: "A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion." [DOID:0080891]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080891 {source="MONDO:equivalentTo"}
is_a: MONDO:0850340 {source="DOID:0080891"} ! supratentorial ependymoma

[Term]
id: MONDO:0956985
name: lipofibromatosis-like neural tumor
def: "A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion." [DOID:0080894]
xref: DOID:0080894 {source="MONDO:equivalentTo"}
is_a: MONDO:0021581 {source="https://orcid.org/0000-0002-4142-7153"} ! connective tissue neoplasm

[Term]
id: MONDO:0956986
name: solitary fibrous tumor/hemangiopericytoma
def: "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas." [DOID:0080897]
xref: DOID:0080897 {source="MONDO:equivalentTo"}
is_a: MONDO:0021581 {source="https://orcid.org/0000-0002-4142-7153"} ! connective tissue neoplasm

[Term]
id: MONDO:0956987
name: EZB-MYC+ diffuse large B-cell lymphoma
def: "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations." [DOID:0081070]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081070 {source="MONDO:equivalentTo"}
is_a: MONDO:0850469 {source="DOID:0081070"} ! EZB diffuse large B-cell lymphoma

[Term]
id: MONDO:0956988
name: EZB-MYC- diffuse large B-cell lymphoma
def: "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations." [DOID:0081071]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081071 {source="MONDO:equivalentTo"}
is_a: MONDO:0850469 {source="DOID:0081071"} ! EZB diffuse large B-cell lymphoma

[Term]
id: MONDO:0956989
name: CIC-rearranged sarcoma
def: "An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions." [DOID:0081250]
xref: DOID:0081250 {source="MONDO:equivalentTo"}
is_a: MONDO:0858921 {source="DOID:0081250"} ! EWSR1-negative small round cell tumor
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0956990
name: supratentorial ependymoma, ZFTA fusion–positive
def: "A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene." [DOID:0081252]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081252 {source="MONDO:equivalentTo"}
is_a: MONDO:0850340 {source="DOID:0081252"} ! supratentorial ependymoma

[Term]
id: MONDO:0956991
name: supratentorial ependymoma, YAP1 fusion–positive
def: "A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene." [DOID:0081253]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081253 {source="MONDO:equivalentTo"}
is_a: MONDO:0850340 {source="DOID:0081253"} ! supratentorial ependymoma

[Term]
id: MONDO:0956992
name: posterior fossa group A ependymoma
def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression." [DOID:0081254]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081254 {source="MONDO:equivalentTo"}
is_a: MONDO:0850339 {source="DOID:0081254"} ! posterior fossa ependymoma

[Term]
id: MONDO:0956993
name: posterior fossa group B ependymoma
def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression." [DOID:0081255]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081255 {source="MONDO:equivalentTo"}
is_a: MONDO:0850339 {source="DOID:0081255"} ! posterior fossa ependymoma

[Term]
id: MONDO:0956994
name: astrocytoma, IDH-mutant, grade 2
def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system." [DOID:0081256]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081256 {source="MONDO:equivalentTo"}
xref: MEDGEN:927224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4289692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927224"}
is_a: MONDO:0850332 {source="DOID:0081256"} ! IDH-mutant anaplastic astrocytoma

[Term]
id: MONDO:0956995
name: astrocytoma, IDH-mutant, grade 3
def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features." [DOID:0081257]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081257 {source="MONDO:equivalentTo"}
xref: MEDGEN:927513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4289981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927513"}
is_a: MONDO:0850332 {source="DOID:0081257"} ! IDH-mutant anaplastic astrocytoma

[Term]
id: MONDO:0956996
name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2
def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis)." [DOID:0081281]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081281 {source="MONDO:equivalentTo"}
is_a: MONDO:0859592 {source="DOID:0081281"} ! IDH-mutant and 1p/19q-codeleted oligodendroglioma

[Term]
id: MONDO:0956997
name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3
def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas." [DOID:0081282]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081282 {source="MONDO:equivalentTo"}
is_a: MONDO:0859592 {source="DOID:0081282"} ! IDH-mutant and 1p/19q-codeleted oligodendroglioma

[Term]
id: MONDO:0957001
name: obsolete hereditary mixed dermis disorder
subset: ordo_group_of_disorders {source="Orphanet:183481"}
xref: GARD:20274 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:183481 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0957003
name: hereditary neuro-ophthalmological disease
subset: gard_rare {source="GARD:20309", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:183616"}
subset: rare
synonym: "genetic neuro-ophthalmological disease" EXACT [Orphanet:183616]
xref: GARD:20309 {source="MONDO:GARD"}
xref: MEDGEN:1842469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:183616 {source="MONDO:equivalentTo"}
xref: UMLS:C5680540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842469"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI

[Term]
id: MONDO:0957008
name: hereditary cerebral malformation
subset: gard_rare {source="GARD:21004", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:269553"}
subset: rare
synonym: "genetic cerebral malformation" EXACT [Orphanet:269553]
xref: GARD:21004 {source="MONDO:GARD"}
xref: MEDGEN:1842500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:269553 {source="MONDO:equivalentTo"}
xref: UMLS:C5679762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842500"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI

[Term]
id: MONDO:0957009
name: obsolete hereditary posterior fossa malformation
subset: ordo_group_of_disorders {source="Orphanet:269557"}
synonym: "genetic posterior fossa malformation" EXACT [Orphanet:269557]
xref: GARD:21005 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:269557 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0957018
name: autoinflammatory syndrome of childhood
subset: gard_rare {source="GARD:21427", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:319719"}
subset: rare
xref: GARD:21427 {source="MONDO:GARD"}
xref: MEDGEN:1842803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:319719 {source="MONDO:equivalentTo"}
xref: UMLS:C5680962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842803"}
is_a: MONDO:0019751 {source="Orphanet:319719", source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome
intersection_of: MONDO:0019751 ! autoinflammatory syndrome
intersection_of: has_characteristic HP:0011463 ! Childhood onset

[Term]
id: MONDO:0957024
name: obsolete hereditary 46,XX disorder of sex development
subset: ordo_group_of_disorders {source="Orphanet:325697"}
synonym: "genetic 46,XX disorder of sex development" EXACT [Orphanet:325697]
xref: GARD:21482 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325697 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0957025
name: obsolete hereditary 46,XY disorder of sex development
subset: ordo_group_of_disorders {source="Orphanet:325706"}
synonym: "genetic 46,XY disorder of sex development" EXACT [Orphanet:325706]
xref: GARD:21483 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:325706 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0957048
name: isolated macular dystrophy
subset: gard_rare {source="GARD:22097", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:519302"}
subset: rare
xref: GARD:22097 {source="MONDO:GARD"}
xref: MEDGEN:1842262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519302 {source="MONDO:equivalentTo"}
xref: UMLS:C5681367 {source="MEDGEN:1842262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003004 {source="Orphanet:519302", source="https://orcid.org/0000-0001-5208-3432"} ! macular degeneration
relationship: has_characteristic MONDO:0021128 {source="Orphanet:519302"} ! has an isolated presentation

[Term]
id: MONDO:0957097
name: hereditary hemolytic uremic syndrome
subset: gard_rare {source="GARD:22330", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:576742"}
subset: rare
synonym: "genetic hemolytic uremic syndrome" EXACT [Orphanet:576742]
xref: GARD:22330 {source="MONDO:GARD"}
xref: MEDGEN:1825935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:235400 {source="MONDO:equivalentTo"}
xref: Orphanet:576742 {source="MONDO:equivalentTo"}
xref: UMLS:C5680355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1825935"}
is_a: MONDO:0001549 {source="OMIMPS:235400"} ! hemolytic-uremic syndrome
intersection_of: MONDO:0001549 ! hemolytic-uremic syndrome
intersection_of: has_characteristic MONDO:0021152 ! inherited
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:235400"} ! inherited

[Term]
id: MONDO:0957111
name: neurological muscular channelopathy due to a genetic sodium channel defect
subset: gard_rare {source="GARD:19563", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98738"}
subset: rare
xref: GARD:19563 {source="MONDO:GARD"}
xref: MEDGEN:1842444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98738 {source="MONDO:equivalentTo"}
xref: UMLS:C5681681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842444"}
is_a: MONDO:0019119 {source="Orphanet:98738", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy

[Term]
id: MONDO:0957112
name: neurological muscular channelopathy due to a genetic chloride channel defect
subset: gard_rare {source="GARD:19564", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98739"}
subset: rare
xref: GARD:19564 {source="MONDO:GARD"}
xref: MEDGEN:1843259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98739 {source="MONDO:equivalentTo"}
xref: UMLS:C5681687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843259"}
is_a: MONDO:0019119 {source="Orphanet:98739", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy

[Term]
id: MONDO:0957113
name: neurological muscular channelopathy due to a genetic calcium channel defect
subset: gard_rare {source="GARD:19565", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98740"}
subset: rare
xref: GARD:19565 {source="MONDO:GARD"}
xref: MEDGEN:1842522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98740 {source="MONDO:equivalentTo"}
xref: UMLS:C5681686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842522"}
is_a: MONDO:0019119 {source="Orphanet:98740", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy

[Term]
id: MONDO:0957114
name: neurological muscular channelopathy due to a genetic potassium channel defect
subset: gard_rare {source="GARD:19566", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98741"}
subset: rare
xref: GARD:19566 {source="MONDO:GARD"}
xref: MEDGEN:1842582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98741 {source="MONDO:equivalentTo"}
xref: UMLS:C5681685 {source="MEDGEN:1842582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019119 {source="Orphanet:98741", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy

[Term]
id: MONDO:0957115
name: neurological muscular channelopathy due to a genetic ryanodine receptor defect
subset: gard_rare {source="GARD:19567", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:98742"}
subset: rare
xref: GARD:19567 {source="MONDO:GARD"}
xref: MEDGEN:1842742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:98742 {source="MONDO:equivalentTo"}
xref: UMLS:C5681684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842742"}
is_a: MONDO:0019119 {source="Orphanet:98742", source="https://orcid.org/0000-0001-5208-3432"} ! muscular channelopathy

[Term]
id: MONDO:0957196
name: diffuse midline glioma, H3 K27M-mutant
def: "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system." [DOID:0080684]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080684 {source="MONDO:equivalentTo"}
is_a: MONDO:0006033 {source="https://orcid.org/0000-0002-4142-7153"} ! diffuse intrinsic pontine glioma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0957197
name: diffuse glioma, H3 G34 mutant
def: "A histone mutated tumor that has material basis in mutations in codon 34 of the H3 histone family 3A protein." [DOID:0080880]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0080880 {source="MONDO:equivalentTo"}
is_a: MONDO:0021042 {source="https://orcid.org/0000-0002-4142-7153"} ! glioma

[Term]
id: MONDO:0957202
name: spermatogenic failure, X-linked, 7
xref: MEDGEN:1840203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301106 {source="MONDO:equivalentTo"}
xref: UMLS:C5829567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840203"}
is_a: MONDO:0004983 {source="OMIM:301106"} ! spermatogenic failure

[Term]
id: MONDO:0957203
name: intellectual developmental disorder, X-linked 111
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060929 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301107 {source="MONDO:equivalentTo"}
xref: UMLS:C5829568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840204"}
is_a: MONDO:0019181 {source="OMIM:301107"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0957204
name: autoinflammation with pulmonary and cutaneous vasculitis
xref: MEDGEN:1841007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620296 {source="MONDO:equivalentTo"}
xref: UMLS:C5830371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841007"}
is_a: MONDO:0003847 {source="OMIM:620296"} ! hereditary disease

[Term]
id: MONDO:0957208
name: pituitary hormone deficiency, combined or isolated, 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620303 {source="MONDO:equivalentTo"}
xref: UMLS:C5830375 {source="MEDGEN:1841011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0013099 {source="OMIM:620303"} ! combined pituitary hormone deficiencies, genetic form

[Term]
id: MONDO:0957210
name: neurooculorenal syndrome
xref: MEDGEN:1841013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620305 {source="MONDO:equivalentTo"}
xref: UMLS:C5830377 {source="MEDGEN:1841013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620305"} ! hereditary disease

[Term]
id: MONDO:0957211
name: neurodegeneration and seizures due to copper transport defect
xref: MEDGEN:1841021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620306 {source="MONDO:equivalentTo"}
xref: UMLS:C5830385 {source="MEDGEN:1841021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620306"} ! hereditary disease

[Term]
id: MONDO:0957215
name: congenital myopathy 20
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081352 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620310 {source="MONDO:equivalentTo"}
xref: UMLS:C5830393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841029"}
is_a: MONDO:0019952 {source="OMIM:620310"} ! congenital myopathy

[Term]
id: MONDO:0957216
name: premature ovarian failure 21
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620311 {source="MONDO:equivalentTo"}
xref: UMLS:C5830399 {source="MEDGEN:1841035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019852 {source="OMIM:620311"} ! inherited primary ovarian failure

[Term]
id: MONDO:0957217
name: cortical dysplasia, complex, with other brain malformations 12
xref: MEDGEN:1841043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620316 {source="MONDO:equivalentTo"}
xref: UMLS:C5830407 {source="MEDGEN:1841043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000904 {source="OMIM:620316"} ! complex cortical dysplasia with other brain malformations

[Term]
id: MONDO:0957218
name: neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
xref: MEDGEN:1841049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620317 {source="MONDO:equivalentTo"}
xref: UMLS:C5830413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841049"}
is_a: MONDO:0003847 {source="OMIM:620317", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957220
name: oocyte/zygote/embryo maturation arrest 17
xref: MEDGEN:1841054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620319 {source="MONDO:equivalentTo"}
xref: UMLS:C5830418 {source="MEDGEN:1841054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014769 {source="OMIM:620319"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0957221
name: spastic paraplegia 70, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070454 {source="MONDO:equivalentTo"}
xref: OMIM:620323 {source="MONDO:equivalentTo"}
is_a: MONDO:0019064 {source="OMIM:620323"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0957224
name: congenital myopathy 21 with early respiratory failure
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081353 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620326 {source="MONDO:equivalentTo"}
xref: UMLS:C5830424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841060"}
is_a: MONDO:0019952 {source="OMIM:620326"} ! congenital myopathy

[Term]
id: MONDO:0957225
name: neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620327 {source="MONDO:equivalentTo"}
xref: UMLS:C5830433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841069"}
is_a: MONDO:0003847 {source="OMIM:620327"} ! hereditary disease
is_a: MONDO:0005559 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease

[Term]
id: MONDO:0957228
name: intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
xref: MEDGEN:1841073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620330 {source="MONDO:equivalentTo"}
xref: UMLS:C5830437 {source="MEDGEN:1841073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100172 {source="OMIM:620330"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0957229
name: hatipoglu immunodeficiency syndrome
xref: MEDGEN:1841075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620331 {source="MONDO:equivalentTo"}
xref: UMLS:C5830439 {source="MEDGEN:1841075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021094 {source="OMIM:620331"} ! immunodeficiency disease

[Term]
id: MONDO:0957230
name: oocyte/zygote/embryo maturation arrest 18
xref: MEDGEN:1841077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620332 {source="MONDO:equivalentTo"}
xref: UMLS:C5830441 {source="MEDGEN:1841077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014769 {source="OMIM:620332"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0957231
name: oocyte/zygote/embryo maturation arrest 19
xref: MEDGEN:1841078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620333 {source="MONDO:equivalentTo"}
xref: UMLS:C5830442 {source="MONDO:equivalentTo", source="MEDGEN:1841078", source="MONDO:MEDGEN"}
is_a: MONDO:0014769 {source="OMIM:620333"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0957240
name: cone-rod dystrophy 24
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081449 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620342 {source="MONDO:equivalentTo"}
xref: UMLS:C5830446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841082"}
is_a: MONDO:0015993 {source="OMIM:620342"} ! cone-rod dystrophy

[Term]
id: MONDO:0957247
name: congenital myopathy 22A, classic
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081354 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620351 {source="MONDO:equivalentTo"}
xref: UMLS:C5830453 {source="MONDO:equivalentTo", source="MEDGEN:1841089", source="MONDO:MEDGEN"}
is_a: MONDO:0019952 {source="OMIM:620351"} ! congenital myopathy

[Term]
id: MONDO:0957248
name: developmental and epileptic encephalopathy, 31B
def: "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene." [https://orcid.org/0000-0002-0587-4693, OMIM:620352]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:620352]
synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163]
xref: DOID:0070376 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620352 {source="MONDO:equivalentTo"}
xref: UMLS:C5830459 {source="MEDGEN:1841095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="OMIM:620352"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0957249
name: spermatogenic failure 82
xref: MEDGEN:1841104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620353 {source="MONDO:equivalentTo"}
xref: UMLS:C5830468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841104"}
is_a: MONDO:0004983 {source="OMIM:620353"} ! spermatogenic failure

[Term]
id: MONDO:0957250
name: spermatogenic failure 83
xref: MEDGEN:1841106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620354 {source="MONDO:equivalentTo"}
xref: UMLS:C5830470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841106"}
is_a: MONDO:0004983 {source="OMIM:620354"} ! spermatogenic failure

[Term]
id: MONDO:0957252
name: ciliary dyskinesia, primary, 50
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620356 {source="MONDO:equivalentTo"}
xref: UMLS:C5830473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841109"}
is_a: MONDO:0016575 {source="OMIM:620356"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0957253
name: diarrhea 13
xref: MEDGEN:1841113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620357 {source="MONDO:equivalentTo"}
xref: UMLS:C5830477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841113"}
is_a: MONDO:0000824 {source="OMIM:620357"} ! congenital diarrhea

[Term]
id: MONDO:0957254
name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070461 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620358 {source="MONDO:equivalentTo"}
xref: UMLS:C5830480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841116"}
is_a: MONDO:0014471 {source="OMIM:620358"} ! mitochondrial proton-transporting ATP synthase complex deficiency

[Term]
id: MONDO:0957255
name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070464 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620359 {source="MONDO:equivalentTo"}
xref: UMLS:C5830482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841118"}
is_a: MONDO:0014471 {source="OMIM:620359"} ! mitochondrial proton-transporting ATP synthase complex deficiency

[Term]
id: MONDO:0957260
name: combined low LDL and fibrinogen
xref: MEDGEN:1841120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620364 {source="MONDO:equivalentTo"}
xref: UMLS:C5830484 {source="MEDGEN:1841120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620364"} ! hereditary disease

[Term]
id: MONDO:0957261
name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620365 {source="MONDO:equivalentTo"}
xref: UMLS:C5830485 {source="MEDGEN:1841121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000148 {source="OMIM:620365"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related

[Term]
id: MONDO:0957262
name: osteopetrosis, autosomal recessive 9
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620366 {source="MONDO:equivalentTo"}
xref: UMLS:C5830487 {source="MEDGEN:1841123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019026 {source="OMIM:620366"} ! autosomal recessive osteopetrosis

[Term]
id: MONDO:0957263
name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620367 {source="MONDO:equivalentTo"}
xref: UMLS:C5830496 {source="MEDGEN:1841132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000148 {source="OMIM:620367"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related

[Term]
id: MONDO:0957264
name: cerebroretinal microangiopathy with calcifications and cysts 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620368 {source="MONDO:equivalentTo"}
xref: UMLS:C5830497 {source="MONDO:equivalentTo", source="MEDGEN:1841133", source="MONDO:MEDGEN"}
is_a: MONDO:0012815 {source="OMIM:620368"} ! Coats plus syndrome

[Term]
id: MONDO:0957265
name: congenital myopathy 22B, severe fetal
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081355 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620369 {source="MONDO:equivalentTo"}
xref: UMLS:C5830501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841137"}
is_a: MONDO:0019952 {source="OMIM:620369"} ! congenital myopathy

[Term]
id: MONDO:0957266
name: RECON progeroid syndrome
xref: MEDGEN:1841140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620370 {source="MONDO:equivalentTo"}
xref: UMLS:C5830504 {source="MEDGEN:1841140", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620370"} ! hereditary disease

[Term]
id: MONDO:0957267
name: neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
xref: MEDGEN:1841145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620371 {source="MONDO:equivalentTo"}
xref: UMLS:C5830509 {source="MEDGEN:1841145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620371", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957268
name: hypersulfaturia
xref: MEDGEN:1841147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620372 {source="MONDO:equivalentTo"}
xref: UMLS:C5830511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841147"}
is_a: MONDO:0003847 {source="OMIM:620372"} ! hereditary disease

[Term]
id: MONDO:0957270
name: muscular dystrophy, limb-girdle, autosomal recessive 28
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:653725"}
subset: orphanet_rare {source="Orphanet:653725"}
subset: rare
xref: MEDGEN:1841154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620375 {source="MONDO:equivalentTo"}
xref: Orphanet:653725 {source="MONDO:equivalentTo"}
xref: UMLS:C5830518 {source="MEDGEN:1841154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015152 {source="OMIM:620375", source="Orphanet:653725", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: MONDO:0957271
name: autoinflammatory disease, systemic, with vasculitis
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620376 {source="MONDO:equivalentTo"}
xref: UMLS:C5830525 {source="MEDGEN:1841161", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620376", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome

[Term]
id: MONDO:0957273
name: Charcot-Marie-Tooth disease, dominant intermediate A
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:376235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620378 {source="MONDO:equivalentTo"}
xref: UMLS:C1847896 {source="MEDGEN:376235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019548 {source="OMIM:620378"} ! autosomal dominant intermediate Charcot-Marie-Tooth disease

[Term]
id: MONDO:0957274
name: spastic paraplegia 89, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070458 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620379 {source="MONDO:equivalentTo"}
xref: UMLS:C5830531 {source="MEDGEN:1841167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="OMIM:620379"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0957278
name: oocyte/zygote/embryo maturation arrest 20
xref: MEDGEN:1841175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620383 {source="MONDO:equivalentTo"}
xref: UMLS:C5830539 {source="MEDGEN:1841175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0014769 {source="OMIM:620383"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0957279
name: auditory neuropathy, autosomal dominant 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620384 {source="MONDO:equivalentTo"}
xref: UMLS:C5830542 {source="MEDGEN:1841178", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0021944 {source="OMIM:620384"} ! auditory neuropathy

[Term]
id: MONDO:0957281
name: nemaline myopathy 5B, autosomal recessive, childhood-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081374 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620386 {source="MONDO:equivalentTo"}
xref: UMLS:C5830545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841181"}
is_a: MONDO:0018958 {source="OMIM:620386"} ! nemaline myopathy

[Term]
id: MONDO:0957284
name: nemaline myopathy 5C, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081375 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620389 {source="MONDO:equivalentTo"}
xref: UMLS:C5830549 {source="MEDGEN:1841185", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018958 {source="OMIM:620389"} ! nemaline myopathy

[Term]
id: MONDO:0957288
name: intellectual developmental disorder, autosomal recessive 79
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620393 {source="MONDO:equivalentTo"}
xref: UMLS:C5830553 {source="MEDGEN:1841189", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019502 {source="OMIM:620393"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0957294
name: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620400 {source="MONDO:equivalentTo"}
xref: UMLS:C5830560 {source="MEDGEN:1841196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000148 {source="OMIM:620400"} ! pulmonary fibrosis and/or bone marrow failure, telomere-related

[Term]
id: MONDO:0957301
name: spermatogenic failure 84
xref: MEDGEN:1841198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620409 {source="MONDO:equivalentTo"}
xref: UMLS:C5830562 {source="MEDGEN:1841198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004983 {source="OMIM:620409"} ! spermatogenic failure

[Term]
id: MONDO:0957303
name: palmoplantar keratoderma, epidermolytic, 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620411 {source="MONDO:equivalentTo"}
xref: UMLS:C5830568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841204"}
is_a: MONDO:0003847 {source="OMIM:620411"} ! hereditary disease
is_a: MONDO:0968949 {source="OMIM:620411"} ! palmoplantar keratoderma, epidermolytic

[Term]
id: MONDO:0957307
name: woolly hair-skin fragility syndrome
xref: MEDGEN:375148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620415 {source="MONDO:equivalentTo"}
xref: UMLS:C1843292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375148"}
is_a: MONDO:0003847 {source="OMIM:620415"} ! hereditary disease

[Term]
id: MONDO:0957308
name: spastic paraplegia 90A, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070459 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620416 {source="MONDO:equivalentTo"}
xref: UMLS:C5830574 {source="MONDO:equivalentTo", source="MEDGEN:1841210", source="MONDO:MEDGEN"}
is_a: MONDO:0019064 {source="OMIM:620416"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0957309
name: spastic paraplegia 90B, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070460 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620417 {source="MONDO:equivalentTo"}
xref: UMLS:C5830578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841214"}
is_a: MONDO:0019064 {source="OMIM:620417"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0957314
name: retinitis pigmentosa 97
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620422 {source="MONDO:equivalentTo"}
xref: UMLS:C5830579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841215"}
is_a: MONDO:0003847 {source="OMIM:620422", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019200 {source="https://orcid.org/0000-0001-5208-3432"} ! retinitis pigmentosa
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0957316
name: obsolete epidermolytic hyperkeratosis
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0007239

[Term]
id: MONDO:0957317
name: hematuria, benign familial
xref: DOID:0111365 {source="MONDO:equivalentTo"}
xref: MEDGEN:66039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C562476 {source="MONDO:equivalentTo"}
xref: OMIMPS:141200 {source="MONDO:equivalentTo"}
xref: Orphanet:97562 {source="MONDO:equivalentObsolete"}
xref: UMLS:C0241908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66039"}
is_a: MONDO:0003847 {source="OMIMPS:141200"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:141200"} ! inherited

[Term]
id: MONDO:0957318
name: nephrolithiasis, calcium oxalate
xref: MEDGEN:318935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:167030 {source="MONDO:equivalentTo"}
xref: UMLS:C1833683 {source="MONDO:equivalentTo", source="MEDGEN:318935", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIMPS:167030"} ! hereditary disease
is_a: MONDO:0008171 {source="OMIMPS:167030"} ! nephrolithiasis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:167030"} ! inherited

[Term]
id: MONDO:0957319
name: pseudohypoaldosteronism, type I
comment: Reason: duplicate. This will be merged with MONDO:0019161 pseudohypoaldosteronism type 1
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: OMIMPS:177735 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0003847 {source="OMIMPS:177735"} ! hereditary disease
is_a: MONDO:0100323 {source="OMIMPS:177735"} ! inherited pseudohypoaldosteronism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:177735"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7273" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7766" xsd:anyURI
property_value: IAO:0006012 "2024-05-01" xsd:string

[Term]
id: MONDO:0957337
name: isolated chorioretinal dystrophy
subset: gard_rare {source="GARD:22096", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:519300"}
subset: rare
xref: GARD:22096 {source="MONDO:GARD"}
xref: MEDGEN:1842795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519300 {source="MONDO:equivalentTo"}
xref: UMLS:C5681368 {source="MEDGEN:1842795", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder

[Term]
id: MONDO:0957341
name: secondary early-onset glaucoma
subset: gard_rare {source="GARD:22111", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:519331"}
subset: rare
xref: GARD:22111 {source="MONDO:GARD"}
xref: MEDGEN:1843268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:519331 {source="MONDO:equivalentTo"}
xref: UMLS:C5681353 {source="MEDGEN:1843268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0005041 {source="https://orcid.org/0000-0001-5208-3432"} ! glaucoma

[Term]
id: MONDO:0957382
name: multiple mitochondrial dysfunctions syndrome 7
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620423 {source="MONDO:equivalentTo"}
xref: UMLS:C5830586 {source="MEDGEN:1841222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017338 {source="OMIM:620423"} ! fatal multiple mitochondrial dysfunctions syndrome

[Term]
id: MONDO:0957385
name: dystonia 37, early-onset, with striatal lesions
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060956 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620427 {source="MONDO:equivalentTo"}
xref: UMLS:C5830592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841228"}
is_a: MONDO:0044807 {source="OMIM:620427"} ! inherited dystonia

[Term]
id: MONDO:0957386
name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
xref: DOID:0081387 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620428 {source="MONDO:equivalentTo"}
xref: UMLS:C5830596 {source="MONDO:equivalentTo", source="MEDGEN:1841232", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620428", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957388
name: autoimmune disease, multisystem, infantile-onset, 3
xref: MEDGEN:1841236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620430 {source="MONDO:equivalentTo"}
xref: UMLS:C5830600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841236"}
is_a: MONDO:0000213 {source="OMIM:620430"} ! autoimmune disease, multisystem, infantile-onset

[Term]
id: MONDO:0957396
name: ciliary dyskinesia, primary, 51
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620438 {source="MONDO:equivalentTo"}
xref: UMLS:C5830608 {source="MEDGEN:1841244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016575 {source="OMIM:620438"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0957397
name: intellectual developmental disorder, autosomal dominant 72
def: "An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features." [https://orcid.org/0000-0001-9310-0163, OMIM:620439, Orphanet:652487, PMID:35567594, PMID:37272925]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652487"}
subset: orphanet_rare {source="Orphanet:652487"}
subset: rare
synonym: "autosomal dominant intellectual developmental disorder-72" EXACT [OMIM:620439]
synonym: "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome" EXACT [Orphanet:652487]
synonym: "MRD72" EXACT ABBREVIATION [OMIM:620439]
synonym: "SRRM2-related neurodevelopmental disorder" EXACT [https://orcid.org/0000-0001-9310-0163]
xref: MEDGEN:1841248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620439 {source="MONDO:equivalentTo"}
xref: Orphanet:652487 {xref="MONDO:equivalentTo"}
xref: UMLS:C5830612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841248"}
is_a: MONDO:0100172 {source="OMIM:620439"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0957400
name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis
xref: OMIMPS:301108 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIMPS:301108"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIMPS:301108"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:301108"} ! inherited

[Term]
id: MONDO:0957403
name: periodic fever syndrome of childhood
subset: gard_rare {source="GARD:21458", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:324939"}
subset: rare
xref: GARD:21458 {source="MONDO:GARD"}
xref: MEDGEN:1842772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324939 {source="MONDO:equivalentTo"}
xref: UMLS:C5680952 {source="MONDO:equivalentTo", source="MEDGEN:1842772", source="MONDO:MEDGEN"}
is_a: MONDO:0015137 {source="https://orcid.org/0000-0001-5208-3432"} ! periodic fever syndrome

[Term]
id: MONDO:0957404
name: obsolete pyogenic autoinflammatory syndrome of childhood
subset: ordo_group_of_disorders {source="Orphanet:324942"}
xref: GARD:21459 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:324942 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping", source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6789" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:0957405
name: granulomatous autoinflammatory syndrome of childhood
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:21460", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:324950"}
subset: rare
xref: GARD:21460 {source="MONDO:GARD"}
xref: MEDGEN:1842911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:324950 {source="MONDO:equivalentTo"}
xref: UMLS:C5680954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842911"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-7941-2961"} ! autoinflammatory syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI

[Term]
id: MONDO:0957408
name: type 1 interferonopathy of childhood
def: "A type 1 interferonopathy that occurs during childhood." [MONDO:patterns/childhood]
comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230)
subset: gard_rare {source="GARD:21986", source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:481671"}
subset: rare
xref: GARD:21986 {source="MONDO:GARD"}
xref: MEDGEN:1843010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:481671 {source="MONDO:equivalentTo"}
xref: UMLS:C5681250 {source="MEDGEN:1843010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0019751 {source="PMID:34736626", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-5002-8648"} ! autoinflammatory syndrome
intersection_of: MONDO:0700264 ! type 1 interferonopathy
intersection_of: has_characteristic HP:0011463 ! Childhood onset
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI

[Term]
id: MONDO:0957421
name: borna virus encephalitis
def: "A human disease caused by infection with Borna disease virus." [MONDO:patterns/infectious_disease_by_agent]
comment: This disease is considered zoonotic, i.e. able to be transmitted between human and non-human animals (PMID:34376142). In Mondo, we distinguish between human and non-human animal diseases, and we currently do not have a general term to represent a species-agnostic version of the disease. This record is for the human version of “borna disease”.
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:637051"}
subset: orphanet_rare {source="Orphanet:637051"}
subset: rare
xref: DOID:5154 {source="MONDO:relatedTo", source="EFO:0007178"}
xref: MEDGEN:1843023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D001890 {source="MONDO:relatedTo", source="DOID:5154", source="EFO:0007178"}
xref: Orphanet:637051 {source="MONDO:equivalentTo"}
xref: SCTID:76851008 {source="DOID:5154"}
xref: UMLS:C5816783 {source="MEDGEN:1843023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006009 {source="https://orcid.org/0000-0001-5208-3432"} ! viral encephalitis
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:12455 ! disease has primary infectious agent Borna disease virus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6842" xsd:string

[Term]
id: MONDO:0957423
name: immunotherapy induced hypophysitis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641350"}
subset: orphanet_rare {source="Orphanet:641350"}
subset: rare
xref: MEDGEN:1843401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:641350 {source="MONDO:equivalentTo"}
xref: UMLS:C5816794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843401"}
is_a: MONDO:0021156 {source="https://orcid.org/0000-0001-5208-3432"} ! hypophysitis

[Term]
id: MONDO:0957426
name: autosomal recessive hyper-IgE syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641368"}
subset: orphanet_rare {source="Orphanet:641368"}
subset: rare
xref: MEDGEN:369829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:641368 {source="MONDO:equivalentTo"}
xref: UMLS:C1968689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369829"}
is_a: MONDO:0018037 {source="https://orcid.org/0000-0001-5208-3432"} ! hyper-IgE syndrome

[Term]
id: MONDO:0957427
name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:641372"}
subset: rare
xref: MEDGEN:1843410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:641372 {source="MONDO:equivalentTo"}
xref: UMLS:C5816790 {source="MONDO:equivalentTo", source="MEDGEN:1843410", source="MONDO:MEDGEN"}
is_a: MONDO:0004947 {source="https://orcid.org/0000-0001-5208-3432"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0957428
name: B-lymphoblastic leukemia/lymphoma with t(17;19)
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:641375"}
subset: rare
xref: MEDGEN:1843405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:641375 {source="MONDO:equivalentTo"}
xref: UMLS:C5816789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843405"}
is_a: MONDO:0004947 {source="https://orcid.org/0000-0001-5208-3432"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0957430
name: childhood-onset schizophrenia
subset: gard_rare {source="GARD:4766", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641496"}
subset: orphanet_rare {source="Orphanet:641496"}
subset: rare
xref: GARD:4766 {source="MONDO:GARD"}
xref: MEDGEN:48576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:641496 {source="MONDO:equivalentTo"}
xref: UMLS:C0036346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:48576"}
is_a: MONDO:0005090 {source="https://orcid.org/0000-0001-5208-3432"} ! schizophrenia

[Term]
id: MONDO:0957431
name: endogenous Cushing syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:641613"}
subset: rare
xref: MEDGEN:1727013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:641613 {source="MONDO:equivalentTo"}
xref: UMLS:C5419158 {source="MEDGEN:1727013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018912 {source="https://orcid.org/0000-0001-5208-3432"} ! Cushing syndrome

[Term]
id: MONDO:0957432
name: neonatal compartment syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641829"}
subset: orphanet_rare {source="Orphanet:641829"}
subset: rare
xref: MEDGEN:1843409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:641829 {source="MONDO:equivalentTo"}
xref: UMLS:C5782100 {source="MEDGEN:1843409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004001 {source="https://orcid.org/0000-0001-5208-3432"} ! compartment syndrome

[Term]
id: MONDO:0957433
name: primary pulmonary vein stenosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:642071"}
subset: orphanet_rare {source="Orphanet:642071"}
subset: rare
xref: MEDGEN:1843397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:642071 {source="MONDO:equivalentTo"}
xref: UMLS:C5816802 {source="MEDGEN:1843397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0020292 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital anomaly of the great arteries

[Term]
id: MONDO:0957442
name: autosomal recessive ataxia due to PEX16 deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:642954"}
subset: orphanet_rare {source="Orphanet:642954"}
subset: rare
xref: MEDGEN:1843419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:642954 {source="MONDO:equivalentTo"}
xref: UMLS:C5816797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843419"}
is_a: MONDO:0100309 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia

[Term]
id: MONDO:0957443
name: autosomal recessive ataxia due to PEX2 deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:642965"}
subset: orphanet_rare {source="Orphanet:642965"}
subset: rare
xref: MEDGEN:1843414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:642965 {source="MONDO:equivalentTo"}
xref: UMLS:C5816796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843414"}
is_a: MONDO:0100309 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary ataxia

[Term]
id: MONDO:0957451
name: non-terminal myelocystocele
def: "A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis." [Orphanet:645340]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645340"}
subset: orphanet_rare {source="Orphanet:645340"}
subset: rare
xref: MEDGEN:1843415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645340 {source="MONDO:equivalentTo"}
xref: UMLS:C5816719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843415"}
is_a: MONDO:0017077 {source="https://orcid.org/0000-0001-5208-3432"} ! myelocystocele
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0957452
name: segmental arterial mediolysis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645350"}
subset: orphanet_rare {source="Orphanet:645350"}
subset: rare
xref: MEDGEN:1387331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645350 {source="MONDO:equivalentTo"}
xref: UMLS:C4517096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387331"}
is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI

[Term]
id: MONDO:0957453
name: true myelomeningocele
def: "A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation)." [Orphanet:645383]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:645383"}
subset: rare
xref: MEDGEN:1843418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645383 {source="MONDO:equivalentTo"}
xref: UMLS:C5816713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843418"}
is_a: MONDO:0019773 {source="https://orcid.org/0000-0001-5208-3432"} ! myelomeningocele

[Term]
id: MONDO:0957454
name: hemi-myelomeningocele
def: "A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele." [Orphanet:645388]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:645388"}
subset: rare
xref: MEDGEN:1843407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645388 {source="MONDO:equivalentTo"}
xref: UMLS:C5816710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843407"}
is_a: MONDO:0019773 {source="https://orcid.org/0000-0001-5208-3432"} ! myelomeningocele

[Term]
id: MONDO:0957456
name: classical dermatomyositis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:645613"}
subset: rare
xref: MEDGEN:1843411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645613 {source="MONDO:equivalentTo"}
xref: UMLS:C5816707 {source="MEDGEN:1843411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016367 {source="https://orcid.org/0000-0001-5208-3432"} ! dermatomyositis

[Term]
id: MONDO:0957458
name: adermatopathic dermatomyositis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:645626"}
subset: rare
xref: MEDGEN:1843427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645626 {source="MONDO:equivalentTo"}
xref: UMLS:C5816708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843427"}
is_a: MONDO:0016367 {source="https://orcid.org/0000-0001-5208-3432"} ! dermatomyositis

[Term]
id: MONDO:0957459
name: congenital esophageal stenosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645749"}
subset: orphanet_rare {source="Orphanet:645749"}
subset: rare
xref: MEDGEN:743886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645749 {source="MONDO:equivalentTo"}
xref: UMLS:C1963580 {source="MEDGEN:743886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003749 {source="https://orcid.org/0000-0001-5208-3432"} ! esophageal disorder

[Term]
id: MONDO:0957460
name: spontaneous intestinal perforation
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645793"}
subset: orphanet_rare {source="Orphanet:645793"}
subset: rare
xref: icd11.foundation:1355081169 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:645793"}
xref: MEDGEN:856598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645793 {source="MONDO:equivalentTo"}
xref: UMLS:C3897004 {source="MEDGEN:856598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006807 {source="https://orcid.org/0000-0001-5208-3432"} ! intestinal perforation

[Term]
id: MONDO:0957461
name: primary tuberculous lymphadenitis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645807"}
subset: orphanet_rare {source="Orphanet:645807"}
subset: rare
xref: icd11.foundation:870345553 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:645807"}
xref: MEDGEN:1843412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645807 {source="MONDO:equivalentTo"}
xref: UMLS:C5816704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843412"}
is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis

[Term]
id: MONDO:0957462
name: primary pulmonary tuberculosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645814"}
subset: orphanet_rare {source="Orphanet:645814"}
subset: rare
xref: icd11.foundation:882244568 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:645814"}
xref: Orphanet:645814 {source="MONDO:equivalentTo"}
is_a: MONDO:0006052 {source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary tuberculosis

[Term]
id: MONDO:0957463
name: primary bone and joint tuberculosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645822"}
subset: orphanet_rare {source="Orphanet:645822"}
subset: rare
xref: MEDGEN:1843400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645822 {source="MONDO:equivalentTo"}
xref: UMLS:C5816705 {source="MEDGEN:1843400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis

[Term]
id: MONDO:0957464
name: primary cutaneous tuberculosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645849"}
subset: orphanet_rare {source="Orphanet:645849"}
subset: rare
xref: icd11.foundation:625292625 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:645849"}
xref: MEDGEN:1843421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645849 {source="MONDO:equivalentTo"}
xref: UMLS:C5816706 {source="MONDO:equivalentTo", source="MEDGEN:1843421", source="MONDO:MEDGEN"}
is_a: MONDO:0021948 {source="https://orcid.org/0000-0001-5208-3432"} ! cutaneous tuberculosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0957465
name: multifocal tuberculosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645854"}
subset: orphanet_rare {source="Orphanet:645854"}
subset: rare
xref: MEDGEN:1843417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645854 {source="MONDO:equivalentTo"}
xref: UMLS:C5816701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843417"}
is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis

[Term]
id: MONDO:0957466
name: primary tuberculosis of the digestive system
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645859"}
subset: orphanet_rare {source="Orphanet:645859"}
subset: rare
xref: icd11.foundation:1873777499 {source="MONDO:equivalentTo", source="Orphanet:645859", source="https://orcid.org/0000-0002-3458-4839"}
xref: MEDGEN:1843420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645859 {source="MONDO:equivalentTo"}
xref: UMLS:C5816702 {source="MEDGEN:1843420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis

[Term]
id: MONDO:0957467
name: primary genito-urinary tuberculosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645874"}
subset: orphanet_rare {source="Orphanet:645874"}
subset: rare
xref: Orphanet:645874 {source="MONDO:equivalentTo"}
is_a: MONDO:0006002 {source="https://orcid.org/0000-0001-5208-3432"} ! urogenital tuberculosis

[Term]
id: MONDO:0957473
name: craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647681"}
subset: orphanet_rare {source="Orphanet:647681"}
subset: rare
xref: MEDGEN:1843399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:647681 {source="MONDO:equivalentTo"}
xref: UMLS:C5816752 {source="MONDO:equivalentTo", source="MEDGEN:1843399", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0957476
name: isolated persistent urogenital sinus
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647794"}
subset: orphanet_rare {source="Orphanet:647794"}
subset: rare
xref: MEDGEN:1843424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:647794 {source="MONDO:equivalentTo"}
xref: UMLS:C5816754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843424"}
is_a: MONDO:0019356 {source="https://orcid.org/0000-0001-5208-3432"} ! urogenital tract malformation

[Term]
id: MONDO:0957477
name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647799"}
subset: orphanet_rare {source="Orphanet:647799"}
subset: rare
xref: MEDGEN:1843395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:647799 {source="MONDO:equivalentTo"}
xref: UMLS:C5816753 {source="MEDGEN:1843395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease

[Term]
id: MONDO:0957481
name: idiopathic pregnancy-associated osteoporosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647823"}
subset: orphanet_rare {source="Orphanet:647823"}
subset: rare
xref: MEDGEN:1843391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:647823 {source="MONDO:equivalentTo"}
xref: UMLS:C5782297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843391"}
is_a: MONDO:0100194 {source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy associated osteoporosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0957487
name: idiopathic catatonia
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:648919"}
subset: orphanet_rare {source="Orphanet:648919"}
subset: rare
xref: MEDGEN:1843416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:648919 {source="MONDO:equivalentTo"}
xref: UMLS:C5816742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843416"}
is_a: MONDO:0800105 {source="https://orcid.org/0000-0001-5208-3432"} ! catatonia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0957494
name: autoinflammatory disease, multisystem, with immune dysregulation, X-linked
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301109 {source="MONDO:equivalentTo"}
xref: UMLS:C5829577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840213"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome

[Term]
id: MONDO:0957495
name: hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301110 {source="MONDO:equivalentTo"}
xref: UMLS:C5829585 {source="MEDGEN:1840221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0957097 {source="OMIM:301110"} ! hereditary hemolytic uremic syndrome

[Term]
id: MONDO:0957496
name: intellectual developmental disorder, X-linked 112
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1840225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301111 {source="MONDO:equivalentTo"}
xref: UMLS:C5829589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840225"}
is_a: MONDO:0019181 {source="OMIM:301111"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0957497
name: disabling pansclerotic morphea of childhood
xref: DOID:0081373 {source="MONDO:equivalentTo"}
xref: MEDGEN:858243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620443 {source="MONDO:equivalentTo"}
xref: UMLS:C3898649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:858243"}
is_a: MONDO:0003847 {source="OMIM:620443"} ! hereditary disease

[Term]
id: MONDO:0957519
name: diffuse gastric cancer
def: "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining." [DOID:0080763]
xref: DOID:0080763 {source="MONDO:equivalentTo"}
is_a: MONDO:0001056 {source="DOID:0080763"} ! gastric cancer

[Term]
id: MONDO:0957524
name: COX deficiency, benign infantile mitochondrial myopathy
def: "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles." [DOID:0081377]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081377 {source="MONDO:equivalentTo"}
is_a: MONDO:0005336 {source="https://orcid.org/0000-0002-4142-7153"} ! myopathy
is_a: MONDO:0009068 {source="DOID:0081377"} ! cytochrome-c oxidase deficiency disease

[Term]
id: MONDO:0957530
name: breast-ovarian cancer, familial, susceptibility to, 5
xref: MEDGEN:1841251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620442 {source="MONDO:equivalentTo"}
xref: UMLS:C5830615 {source="MEDGEN:1841251", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100526 {source="OMIM:620442"} ! breast-ovarian cancer, familial, susceptibility to
relationship: has_characteristic MONDO:0021152 {source="OMIM:620442"} ! inherited

[Term]
id: MONDO:0957531
name: neurodevelopmental disorder with microcephaly and movement abnormalities
xref: MEDGEN:1841260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620445 {source="MONDO:equivalentTo"}
xref: UMLS:C5830624 {source="MEDGEN:1841260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620445", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957533
name: megalencephalic leukoencephalopathy with subcortical cysts 3
xref: MEDGEN:1841261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620447 {source="MONDO:equivalentTo"}
xref: UMLS:C5830625 {source="MEDGEN:1841261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000137 {source="OMIM:620447"} ! leukoencephalopathy, megalencephalic

[Term]
id: MONDO:0957534
name: megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
xref: MEDGEN:1841264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620448 {source="MONDO:equivalentTo"}
xref: UMLS:C5830628 {source="MEDGEN:1841264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000137 {source="OMIM:620448"} ! leukoencephalopathy, megalencephalic

[Term]
id: MONDO:0957535
name: immunodeficiency 112
xref: MEDGEN:1841269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620449 {source="MONDO:equivalentTo"}
xref: UMLS:C5830633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841269"}
is_a: MONDO:0003847 {source="OMIM:620449", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease

[Term]
id: MONDO:0957536
name: intellectual developmental disorder, autosomal dominant 73
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620450 {source="MONDO:equivalentTo"}
xref: UMLS:C5830636 {source="MEDGEN:1841272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620450", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0015802 {source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability

[Term]
id: MONDO:0957537
name: combined oxidative phosphorylation deficiency 58
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620451 {source="MONDO:equivalentTo"}
xref: UMLS:C5830641 {source="MEDGEN:1841277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000732 {source="OMIM:620451"} ! combined oxidative phosphorylation deficiency

[Term]
id: MONDO:0957538
name: amyotrophic lateral sclerosis 28
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081382 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620452 {source="MONDO:equivalentTo"}
xref: UMLS:C5830642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841278"}
is_a: MONDO:0005144 {source="OMIM:620452"} ! familial amyotrophic lateral sclerosis

[Term]
id: MONDO:0957539
name: dystonia 22, juvenile-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060966 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620453 {source="MONDO:equivalentTo"}
xref: UMLS:C5830645 {source="MEDGEN:1841281", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044807 {source="OMIM:620453"} ! inherited dystonia

[Term]
id: MONDO:0957540
name: congenital disorder of glycosylation, type IIaa
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620454 {source="MONDO:equivalentTo"}
xref: UMLS:C5830651 {source="MONDO:equivalentTo", source="MEDGEN:1841287", source="MONDO:MEDGEN"}
is_a: MONDO:0005501 {source="OMIM:620454"} ! congenital disorder of glycosylation type II

[Term]
id: MONDO:0957541
name: neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
xref: DOID:0070512 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620455 {source="MONDO:equivalentTo"}
xref: UMLS:C5830654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841290"}
is_a: MONDO:0003847 {source="OMIM:620455", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957542
name: dystonia 22, adult-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060967 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620456 {source="MONDO:equivalentTo"}
xref: UMLS:C5830658 {source="MEDGEN:1841294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0044807 {source="OMIM:620456"} ! inherited dystonia

[Term]
id: MONDO:0957543
name: auriculocondylar syndrome 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620457 {source="MONDO:equivalentTo"}
xref: UMLS:C5830659 {source="MEDGEN:1841295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000107 {source="OMIM:620457"} ! auriculocondylar syndrome

[Term]
id: MONDO:0957544
name: auriculocondylar syndrome 2B
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620458 {source="MONDO:equivalentTo"}
xref: UMLS:C5830664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841300"}
is_a: MONDO:0000107 {source="OMIM:620458"} ! auriculocondylar syndrome

[Term]
id: MONDO:0957545
name: cardiomyopathy, dilated, 2I
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620462 {source="MONDO:equivalentTo"}
xref: UMLS:C5830685 {source="MEDGEN:1841321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016333 {source="OMIM:620462"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0957553
name: Houge-Janssens syndrome
xref: OMIMPS:616355 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIMPS:616355"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIMPS:616355"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:616355"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6531" xsd:anyURI

[Term]
id: MONDO:0957556
name: congenital pulmonary vein atresia
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:99126"}
subset: orphanet_rare {source="Orphanet:99126"}
subset: rare
xref: MEDGEN:576417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:99126 {source="MONDO:equivalentTo"}
xref: UMLS:C0344679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576417"}
is_a: MONDO:0017864 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital pulmonary veins atresia or stenosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0957560
name: hearing loss, noise-induced, susceptibility to
xref: MEDGEN:414426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:613035 {source="MONDO:equivalentTo"}
xref: UMLS:C2751629 {source="MONDO:equivalentTo", source="MEDGEN:414426", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:613035"} ! hereditary disease
is_a: MONDO:0020573 {source="OMIM:613035"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0013098 ! noise induced hearing loss

[Term]
id: MONDO:0957561
name: encephalitis, acute, infection-induced, susceptibility to, 12
xref: OMIM:620461 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620461"} ! hereditary disease
is_a: MONDO:0020573 {source="OMIM:620461"} ! inherited disease susceptibility
relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:620461", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced
relationship: predisposes_towards MONDO:0000166 {source="OMIM:620461"} ! encephalopathy, acute, infection-induced

[Term]
id: MONDO:0957563
name: cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
xref: OMIM:620469 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620469"} ! hereditary disease

[Term]
id: MONDO:0957564
name: congenital smooth muscle hamartoma, with or without hemihypertrophy
xref: OMIM:620470 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620470"} ! hereditary disease

[Term]
id: MONDO:0957572
name: thrombocytopenia 9
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620478 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620478"} ! hereditary disease
is_a: MONDO:0100241 {source="OMIM:620478"} ! inherited thrombocytopenia

[Term]
id: MONDO:0957575
name: amegakaryocytic thrombocytopenia, congenital, 2
xref: OMIM:620481 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620481"} ! hereditary disease

[Term]
id: MONDO:0957576
name: parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
xref: DOID:0070486 {source="MONDO:equivalentTo"}
xref: OMIM:620482 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620482"} ! hereditary disease
is_a: MONDO:0005180 {source="OMIM:620482"} ! Parkinson disease

[Term]
id: MONDO:0957577
name: variegate porphyria, childhood-onset
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620483 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620483"} ! hereditary disease
is_a: MONDO:0008297 {source="OMIM:176200", source="OMIM:620483"} ! variegate porphyria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0957578
name: thrombocytopenia 10
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620484 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620484"} ! hereditary disease
is_a: MONDO:0100241 {source="OMIM:620484"} ! inherited thrombocytopenia

[Term]
id: MONDO:0957580
name: bleeding disorder, platelet-type, 25
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620486 {source="MONDO:equivalentTo"}
is_a: MONDO:0000009 {source="OMIM:620486"} ! inherited bleeding disorder, platelet-type
is_a: MONDO:0003847 {source="OMIM:620486"} ! hereditary disease

[Term]
id: MONDO:0957583
name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
xref: DOID:0070513 {source="MONDO:equivalentTo"}
xref: OMIM:620489 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620489"} ! hereditary disease
is_a: MONDO:0700092 {source="OMIM:620489"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957584
name: spermatogenic failure 85
xref: OMIM:620490 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620490"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:620490"} ! spermatogenic failure

[Term]
id: MONDO:0957588
name: neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
xref: OMIM:620494 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620494"} ! hereditary disease
is_a: MONDO:0700092 {source="OMIM:620494"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957593
name: spermatogenic failure 86
xref: OMIM:620499 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620499"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:620499"} ! spermatogenic failure

[Term]
id: MONDO:0957594
name: spermatogenic failure 87
xref: OMIM:620500 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620500"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:620500"} ! spermatogenic failure

[Term]
id: MONDO:0957595
name: Ziegler-Huang syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620501 {source="MONDO:equivalentTo"}
is_a: MONDO:0000159 {source="OMIM:620501"} ! bone marrow failure syndrome
is_a: MONDO:0003847 {source="OMIM:620501"} ! hereditary disease

[Term]
id: MONDO:0957599
name: epilepsy, early-onset
xref: OMIMPS:617290 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIMPS:617290"} ! hereditary disease
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617290"} ! inherited

[Term]
id: MONDO:0957779
name: neurodevelopmental disorder with language delay and variable cognitive abnormalities
xref: OMIM:620502 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620502"} ! hereditary disease
is_a: MONDO:0700092 {source="OMIM:620502"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957780
name: developmental and epileptic encephalopathy 111
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620504 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620504"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:620504"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0957783
name: ichthyosis with erythrokeratoderma
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620507 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620507"} ! hereditary disease
is_a: MONDO:0015947 {source="OMIM:620507"} ! inherited ichthyosis

[Term]
id: MONDO:0957786
name: xerosis and growth failure with immune and pulmonary dysfunction syndrome
xref: OMIM:620510 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620510"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:620510"} ! hereditary disease

[Term]
id: MONDO:0957787
name: Fliedner-Zweier syndrome
xref: OMIM:620511 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620511"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:620511"} ! hereditary disease

[Term]
id: MONDO:0957788
name: spastic paraplegia 18a, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620512 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620512"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:620512"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0957790
name: immune dysregulation, autoimmunity, and autoinflammation
xref: OMIM:620514 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620514"} ! hereditary disease

[Term]
id: MONDO:0957791
name: neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
xref: OMIM:620515 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620515"} ! hereditary disease
is_a: MONDO:0700092 {source="OMIM:620515"} ! neurodevelopmental disorder

[Term]
id: MONDO:0957795
name: arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
xref: OMIM:620519 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620519"} ! hereditary disease

[Term]
id: MONDO:0957807
name: hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620532 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620532"} ! hereditary disease
is_a: MONDO:0018037 {source="OMIM:620532"} ! hyper-IgE syndrome

[Term]
id: MONDO:0957809
name: neutropenia, severe congenital, 10, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620534 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620534"} ! hereditary disease
is_a: MONDO:0018542 {source="OMIM:620534"} ! severe congenital neutropenia

[Term]
id: MONDO:0957810
name: developmental delay, dysmorphic facies, and brain anomalies
xref: DOID:0060933 {source="MONDO:equivalentTo"}
xref: OMIM:620535 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620535"} ! hereditary disease

[Term]
id: MONDO:0957811
name: Alport syndrome 3b, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620536 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620536"} ! hereditary disease
is_a: MONDO:0018965 {source="OMIM:620536"} ! Alport syndrome

[Term]
id: MONDO:0957812
name: developmental and epileptic encephalopathy 112
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620537 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620537"} ! hereditary disease
is_a: MONDO:0100062 {source="OMIM:620537"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0957813
name: spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620538 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620538"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:620538"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0957815
name: developmental delay with or without epilepsy
xref: OMIM:620540 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620540"} ! hereditary disease

[Term]
id: MONDO:0957819
name: arthrogryposis, distal, type 12
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620545 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620545"} ! hereditary disease
is_a: MONDO:0019942 {source="OMIM:620545"} ! distal arthrogryposis

[Term]
id: MONDO:0957820
name: congenital disorder of glycosylation, type IIbb
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "CDG IIbb" EXACT [OMIM:620546]
synonym: "CDGIIBB" EXACT [OMIM:620546]
xref: OMIM:620546 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620546"} ! hereditary disease
is_a: MONDO:0005501 {source="OMIM:620546"} ! congenital disorder of glycosylation type II
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7276" xsd:anyURI

[Term]
id: MONDO:0957821
name: spermatogenic failure 88
xref: OMIM:620547 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620547"} ! hereditary disease
is_a: MONDO:0004983 {source="OMIM:620547"} ! spermatogenic failure

[Term]
id: MONDO:0957822
name: premature ovarian failure 22
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620548 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620548"} ! hereditary disease
is_a: MONDO:0019852 {source="OMIM:620548"} ! inherited primary ovarian failure

[Term]
id: MONDO:0957824
name: optic atrophy 14
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620550 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620550"} ! hereditary disease
is_a: MONDO:0043878 {source="OMIM:620550"} ! hereditary optic atrophy

[Term]
id: MONDO:0957825
name: deafness, autosomal recessive 121
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620551 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620551"} ! hereditary disease
is_a: MONDO:0019588 {source="OMIM:620551"} ! hearing loss, autosomal recessive
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0957832
name: craniometadiaphyseal osteosclerosis with hip dysplasia
xref: OMIM:620558 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620558"} ! hereditary disease

[Term]
id: MONDO:0957870
name: leukoencephalopathy with vanishing white matter 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070373 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620312 {source="MONDO:equivalentTo"}
xref: UMLS:C5830404 {source="MEDGEN:1841040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620312"} ! hereditary disease
is_a: MONDO:0800448 {source="OMIM:620312"} ! leukoencephalopathy with vanishing white matter

[Term]
id: MONDO:0957871
name: leukoencephalopathy with vanishing white matter 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070372 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620313 {source="MONDO:equivalentTo"}
xref: UMLS:C5830405 {source="MEDGEN:1841041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620313"} ! hereditary disease
is_a: MONDO:0800448 {source="OMIM:620313"} ! leukoencephalopathy with vanishing white matter

[Term]
id: MONDO:0957872
name: leukoencephalopathy with vanishing white matter 4
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070371 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620314 {source="MONDO:equivalentTo"}
xref: UMLS:C5830406 {source="MEDGEN:1841042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620314"} ! hereditary disease
is_a: MONDO:0800448 {source="OMIM:620314"} ! leukoencephalopathy with vanishing white matter

[Term]
id: MONDO:0957873
name: leukoencephalopathy with vanishing white matter 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070367 {source="MONDO:equivalentTo"}
xref: MEDGEN:1830483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620315 {source="MONDO:equivalentTo"}
xref: UMLS:C5779973 {source="MEDGEN:1830483", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:620315"} ! hereditary disease
is_a: MONDO:0800448 {source="OMIM:620315"} ! leukoencephalopathy with vanishing white matter

[Term]
id: MONDO:0957874
name: neuronopathy, distal hereditary motor, autosomal recessive 9
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081428 {source="MONDO:equivalentTo"}
xref: OMIM:620402 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620402"} ! hereditary disease
is_a: MONDO:0015363 {source="OMIM:620402"} ! neuronopathy, distal hereditary motor, autosomal recessive

[Term]
id: MONDO:0957875
name: neuronopathy, distal hereditary motor, autosomal dominant 11
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081400 {source="MONDO:equivalentTo"}
xref: OMIM:620528 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620528"} ! hereditary disease
is_a: MONDO:0015362 {source="OMIM:620528"} ! neuronopathy, distal hereditary motor, autosomal dominant

[Term]
id: MONDO:0957876
name: neuronopathy, distal hereditary motor, autosomal recessive 10
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081429 {source="MONDO:equivalentTo"}
xref: OMIM:620542 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620542"} ! hereditary disease
is_a: MONDO:0015363 {source="OMIM:620542"} ! neuronopathy, distal hereditary motor, autosomal recessive

[Term]
id: MONDO:0957896
name: metabolic dysfunction and alcohol associated liver disease
def: "A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors." [DOID:0070508|PMID\:34722187]
xref: DOID:0070508 {source="MONDO:equivalentTo"}
is_a: MONDO:0004790 {source="DOID:0070508"} ! fatty liver disease

[Term]
id: MONDO:0957912
name: organophosphate-induced delayed polyneuropathy
def: "An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits." [DOID:0081393]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081393 {source="MONDO:equivalentTo"}
is_a: MONDO:0001824 {source="https://orcid.org/0000-0002-4142-7153"} ! polyneuropathy

[Term]
id: MONDO:0957919
name: Lui-Jee-Baron syndrome
xref: OMIM:301114 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:301114"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:301114"} ! hereditary disease

[Term]
id: MONDO:0957920
name: immunodeficiency 113 with autoimmunity and autoinflammation
xref: OMIM:620565 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620565"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:620565"} ! immunodeficiency disease

[Term]
id: MONDO:0957921
name: Cornelia de Lange syndrome 6
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060970 {source="MONDO:equivalentTo"}
xref: OMIM:620568 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620568"} ! hereditary disease
is_a: MONDO:0016033 {source="OMIM:620568"} ! Cornelia de Lange syndrome

[Term]
id: MONDO:0957922
name: ciliary dyskinesia, primary, 52
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620570 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620570"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:620570"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0957928
name: otosclerosis 11
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060928 {source="MONDO:equivalentTo"}
xref: OMIM:620576 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620576"} ! hereditary disease
is_a: MONDO:0005349 {source="OMIM:620576"} ! otosclerosis

[Term]
id: MONDO:0957935
name: optic atrophy 15
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620583 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620583"} ! hereditary disease
is_a: MONDO:0043878 {source="OMIM:620583"} ! hereditary optic atrophy

[Term]
id: MONDO:0957953
name: Garg-Mishra progeroid syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620601 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620601"} ! hereditary disease
is_a: MONDO:0020732 {source="OMIM:620601"} ! progeria

[Term]
id: MONDO:0957954
name: lymphatic malformation 14
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620602 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620602"} ! hereditary disease
is_a: MONDO:0019313 {source="OMIM:620602"} ! lymphatic malformation

[Term]
id: MONDO:0957955
name: immunodeficiency 114, folate-responsive
xref: OMIM:620603 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620603"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:620603"} ! immunodeficiency disease

[Term]
id: MONDO:0957958
name: spastic paraplegia 72b, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620606 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620606"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:620606"} ! hereditary spastic paraplegia

[Term]
id: MONDO:0957960
name: Long-Olsen-Distelmaier syndrome
xref: OMIM:620609 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620609"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:620609"} ! hereditary disease

[Term]
id: MONDO:0957961
name: oocyte/zygote/embryo maturation arrest 21
xref: OMIM:620610 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620610"} ! hereditary disease
is_a: MONDO:0014769 {source="OMIM:620610"} ! inherited oocyte maturation defect

[Term]
id: MONDO:0957978
name: optic atrophy 16
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620629 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620629"} ! hereditary disease
is_a: MONDO:0043878 {source="OMIM:620629"} ! hereditary optic atrophy

[Term]
id: MONDO:0957981
name: immunodeficiency 115 with autoinflammation
xref: OMIM:620632 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620632"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:620632"} ! immunodeficiency disease

[Term]
id: MONDO:0957984
name: cardiomyopathy, dilated, 2j
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620635 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620635"} ! hereditary disease
is_a: MONDO:0016333 {source="OMIM:620635"} ! familial dilated cardiomyopathy

[Term]
id: MONDO:0957985
name: neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
xref: OMIM:620636 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620636"} ! hereditary disease

[Term]
id: MONDO:0957988
name: osteogenesis imperfecta, type 23
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620639 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620639"} ! hereditary disease
is_a: MONDO:0019019 {source="OMIM:620639"} ! osteogenesis imperfecta

[Term]
id: MONDO:0957990
name: Tan-Almurshedi syndrome
xref: OMIM:620641 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620641"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:620641"} ! hereditary disease

[Term]
id: MONDO:0957991
name: ciliary dyskinesia, primary, 53
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620642 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620642"} ! hereditary disease
is_a: MONDO:0016575 {source="OMIM:620642"} ! primary ciliary dyskinesia

[Term]
id: MONDO:0957992
name: combined oxidative phosphorylation deficiency 59
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620646 {source="MONDO:equivalentTo"}
is_a: MONDO:0000732 {source="OMIM:620646"} ! combined oxidative phosphorylation deficiency
is_a: MONDO:0003847 {source="OMIM:620646"} ! hereditary disease

[Term]
id: MONDO:0957993
name: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620647 {source="MONDO:equivalentTo"}
is_a: MONDO:0000090 {source="OMIM:620647"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a: MONDO:0003847 {source="OMIM:620647"} ! hereditary disease

[Term]
id: MONDO:0957997
name: diabetes, deafness, developmental delay, and short stature syndrome
xref: OMIM:620651 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620651"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:620651"} ! hereditary disease

[Term]
id: MONDO:0957999
name: intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620653 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620653"} ! hereditary disease
is_a: MONDO:0019502 {source="OMIM:620653"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0958000
name: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620654 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620654"} ! hereditary disease
is_a: MONDO:0100241 {source="OMIM:620654"} ! inherited thrombocytopenia

[Term]
id: MONDO:0958001
name: Alfadhel syndrome
xref: OMIM:620655 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620655"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:620655"} ! hereditary disease

[Term]
id: MONDO:0958005
name: Hoxha-Aliu syndrome
xref: OMIM:620662 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620662"} ! syndromic disease
is_a: MONDO:0003847 {source="OMIM:620662"} ! hereditary disease

[Term]
id: MONDO:0958006
name: spondyloepimetaphyseal dysplasia, Guo-Campeau type
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620663 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620663"} ! hereditary disease
is_a: MONDO:0100510 {source="OMIM:620663"} ! spondyloepimetaphyseal dysplasia

[Term]
id: MONDO:0958009
name: spastic ataxia 10, autosomal recessive
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620666 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620666"} ! hereditary disease
is_a: MONDO:0017845 {source="OMIM:620666"} ! spastic ataxia

[Term]
id: MONDO:0958011
name: immunodeficiency 117
xref: OMIM:620668 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620668"} ! hereditary disease
is_a: MONDO:0021094 {source="OMIM:620668"} ! immunodeficiency disease

[Term]
id: MONDO:0958012
name: neurodegeneration with brain iron accumulation 9
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620669 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620669"} ! hereditary disease
is_a: MONDO:0018307 {source="OMIM:620669"} ! neurodegeneration with brain iron accumulation

[Term]
id: MONDO:0958013
name: immunodeficiency, common variable, 15
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620670 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620670"} ! hereditary disease
is_a: MONDO:0015517 {source="OMIM:620670"} ! common variable immunodeficiency

[Term]
id: MONDO:0958017
name: neutropenia, severe congenital, 11, autosomal dominant
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620674 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620674"} ! hereditary disease
is_a: MONDO:0018542 {source="OMIM:620674"} ! severe congenital neutropenia

[Term]
id: MONDO:0958018
name: leukodystrophy, hypomyelinating, 27
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620675 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620675"} ! hereditary disease
is_a: MONDO:0019046 {source="OMIM:620675"} ! leukodystrophy

[Term]
id: MONDO:0958022
name: lipodystrophy, familial partial, type 8
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620679 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620679"} ! hereditary disease
is_a: MONDO:0020088 {source="OMIM:620679"} ! familial partial lipodystrophy

[Term]
id: MONDO:0958023
name: lipodystrophy, congenital generalized, type 5
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620680 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620680"} ! hereditary disease
is_a: MONDO:0006536 {source="OMIM:620680"} ! congenital generalized lipodystrophy

[Term]
id: MONDO:0958030
name: immunodeficiency 118
xref: OMIM:301115 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="OMIM:301115"} ! immunodeficiency disease

[Term]
id: MONDO:0958034
name: lipodystrophy, familial partial, type 9
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620683 {source="MONDO:equivalentTo"}
is_a: MONDO:0020088 {source="OMIM:620683"} ! familial partial lipodystrophy

[Term]
id: MONDO:0958035
name: premature ovarian failure 23
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620686 {source="MONDO:equivalentTo"}
is_a: MONDO:0019852 {source="OMIM:620686"} ! inherited primary ovarian failure

[Term]
id: MONDO:0958037
name: developmental dysplasia of the hip 3
xref: OMIM:620690 {source="MONDO:equivalentTo"}
is_a: MONDO:0000158 {source="OMIM:620690"} ! developmental dysplasia of the hip

[Term]
id: MONDO:0958071
name: Hao-Fountain syndrome due to USP7 mutation
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:643538"}
subset: rare
synonym: "USP7-related neurodevelopmental disorder" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40060/]
xref: OMIM:616863 {source="MONDO:equivalentTo"}
xref: Orphanet:643538 {source="MONDO:equivalentTo"}
is_a: MONDO:0014805 {source="Orphanet:643538"} ! Hao-Fountain syndrome
intersection_of: MONDO:0014805 ! Hao-Fountain syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12630 ! USP7
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12630 {source="OMIM:616863"} ! USP7

[Term]
id: MONDO:0958075
name: intramedullary non-dysraphic spinal cord lipoma
def: "A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura." [Orphanet:645359]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645359"}
subset: orphanet_rare {source="Orphanet:645359"}
subset: rare
xref: Orphanet:645359 {source="MONDO:equivalentTo"}
is_a: MONDO:0001790 {source="Orphanet:645359"} ! spinal cord lipoma

[Term]
id: MONDO:0958076
name: myeloschisis
def: "A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation." [Orphanet:645398]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645398"}
subset: orphanet_rare {source="Orphanet:645398"}
subset: rare
xref: MEDGEN:539965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:645398 {source="MONDO:equivalentTo"}
xref: UMLS:C0266507 {source="MEDGEN:539965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017062 {source="Orphanet:645398"} ! spina bifida aperta

[Term]
id: MONDO:0958077
name: collagen 6-related congenital muscular dystrophy
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:646098"}
subset: rare
xref: Orphanet:646098 {source="MONDO:equivalentTo"}
is_a: MONDO:0019950 {source="Orphanet:646098"} ! congenital muscular dystrophy

[Term]
id: MONDO:0958083
name: conjoined twins
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647916"}
subset: orphanet_rare {source="Orphanet:647916"}
subset: rare
xref: MEDGEN:52901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:647916 {source="MONDO:equivalentTo"}
xref: UMLS:C0041428 {source="MONDO:equivalentTo", source="MEDGEN:52901", source="MONDO:MEDGEN"}
is_a: MONDO:0019755 {source="Orphanet:647916", source="https://orcid.org/0000-0002-4142-7153"} ! developmental defect during embryogenesis

[Term]
id: MONDO:0958085
name: digenic hemochromatosis
def: "A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient." [Orphanet:648581]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:648581"}
subset: orphanet_rare {source="Orphanet:648581"}
subset: rare
xref: Orphanet:648581 {source="MONDO:equivalentTo"}
is_a: MONDO:0006507 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary hemochromatosis

[Term]
id: MONDO:0958091
name: cleft palate-congenital heart defect-intellectual disability syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652519"}
subset: orphanet_rare {source="Orphanet:652519"}
subset: rare
xref: Orphanet:652519 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:652519", source="https://orcid.org/0000-0002-4142-7153"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability

[Term]
id: MONDO:0958093
name: non-syndromic supernumerary kidneys
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652528"}
subset: orphanet_rare {source="Orphanet:652528"}
subset: rare
xref: Orphanet:652528 {source="MONDO:equivalentTo"}
is_a: MONDO:0005240 {source="https://orcid.org/0000-0002-4142-7153"} ! kidney disorder

[Term]
id: MONDO:0958094
name: adult-onset progressive leukoencephalopathy-early-onset deafness
def: "A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported." [Orphanet:652532]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652532"}
subset: orphanet_rare {source="Orphanet:652532"}
subset: rare
xref: Orphanet:652532 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="Orphanet:652532", source="https://orcid.org/0000-0002-4142-7153"} ! leukodystrophy

[Term]
id: MONDO:0958095
name: Nodal T-follicular helper cell lymphoma, follicular type
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652650"}
subset: orphanet_rare {source="Orphanet:652650"}
subset: rare
xref: Orphanet:652650 {source="MONDO:equivalentTo"}
is_a: MONDO:0015760 {source="Orphanet:652650"} ! T-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0958096
name: monomorphic epitheliotropic intestinal T-cell lymphoma
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652658"}
subset: orphanet_rare {source="Orphanet:652658"}
subset: rare
xref: MEDGEN:474158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:652658 {source="MONDO:equivalentTo"}
xref: UMLS:C3272525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474158"}
is_a: MONDO:0015760 {source="Orphanet:652658"} ! T-cell non-Hodgkin lymphoma

[Term]
id: MONDO:0958097
name: primary superior vena cava aneurysm
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652668"}
subset: orphanet_rare {source="Orphanet:652668"}
subset: rare
xref: Orphanet:652668 {source="MONDO:equivalentTo"}
is_a: MONDO:0019829 {source="Orphanet:652668"} ! congenital anomaly of superior vena cava

[Term]
id: MONDO:0958098
name: primary inferior vena cava aneurysm
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652678"}
subset: orphanet_rare {source="Orphanet:652678"}
subset: rare
xref: Orphanet:652678 {source="MONDO:equivalentTo"}
is_a: MONDO:0019830 {source="Orphanet:652678"} ! congenital anomaly of the inferior vena cava

[Term]
id: MONDO:0958099
name: idiopathic subglottic stenosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:652681"}
subset: orphanet_rare {source="Orphanet:652681"}
subset: rare
xref: Orphanet:652681 {source="MONDO:equivalentTo"}
is_a: MONDO:0004382 {source="https://orcid.org/0000-0002-4142-7153"} ! laryngeal disorder

[Term]
id: MONDO:0958101
name: lymphocytic mastitis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:653698"}
subset: orphanet_rare {source="Orphanet:653698"}
subset: rare
xref: Orphanet:653698 {source="MONDO:equivalentTo"}
is_a: MONDO:0000620 {source="PMID:12640102", source="https://orcid.org/0000-0002-4142-7153"} ! breast benign neoplasm

[Term]
id: MONDO:0958104
name: digenic Alport syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:653722"}
subset: rare
xref: Orphanet:653722 {source="MONDO:equivalentTo"}
is_a: MONDO:0018965 {source="Orphanet:653722"} ! Alport syndrome

[Term]
id: MONDO:0958106
name: congenital insensitivity to pain syndrome, Marsili type
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:653728"}
subset: orphanet_rare {source="Orphanet:653728"}
subset: rare
xref: Orphanet:653728 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0958110
name: atrophic papulosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656071"}
subset: orphanet_rare {source="Orphanet:656071"}
subset: rare
xref: Orphanet:656071 {source="MONDO:equivalentTo"}
is_a: MONDO:0019293 {source="Orphanet:656071", source="https://orcid.org/0000-0002-4142-7153"} ! skin vascular disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0958115
name: autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656283"}
subset: orphanet_rare {source="Orphanet:656283"}
subset: rare
xref: Orphanet:656283 {source="MONDO:equivalentTo"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0018037 {source="Orphanet:656283", source="https://orcid.org/0000-0002-4142-7153"} ! hyper-IgE syndrome
is_a: MONDO:0019698 {source="Orphanet:656283", source="https://orcid.org/0000-0002-4142-7153"} ! bent bone dysplasia

[Term]
id: MONDO:0958116
name: autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656300"}
subset: orphanet_rare {source="Orphanet:656300"}
subset: rare
xref: Orphanet:656300 {source="MONDO:equivalentTo"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0018037 {source="Orphanet:656300", source="https://orcid.org/0000-0002-4142-7153"} ! hyper-IgE syndrome

[Term]
id: MONDO:0958117
name: autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656313"}
subset: orphanet_rare {source="Orphanet:656313"}
subset: rare
xref: Orphanet:656313 {source="MONDO:equivalentTo"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0018037 {source="Orphanet:656313", source="https://orcid.org/0000-0002-4142-7153"} ! hyper-IgE syndrome

[Term]
id: MONDO:0958118
name: autosomal recessive combined immunodeficiency due to IL6R deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656326"}
subset: orphanet_rare {source="Orphanet:656326"}
subset: rare
xref: Orphanet:656326 {source="MONDO:equivalentTo"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0018037 {source="Orphanet:656326", source="https://orcid.org/0000-0002-4142-7153"} ! hyper-IgE syndrome

[Term]
id: MONDO:0958119
name: embryonal tumor with multilayered rosettes
def: "A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life." [Orphanet:656417]
subset: gard_rare {source="GARD:6352", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656417"}
subset: orphanet_rare {source="Orphanet:656417"}
subset: rare
xref: GARD:6352 {source="MONDO:GARD"}
xref: MEDGEN:1804732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:656417 {source="MONDO:equivalentTo"}
xref: UMLS:C5575350 {source="MEDGEN:1804732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0016713 {source="Orphanet:656417", source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor

[Term]
id: MONDO:0958120
name: autosomal dominant combined immunodeficiency due to ERBIN deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656912"}
subset: orphanet_rare {source="Orphanet:656912"}
subset: rare
xref: Orphanet:656912 {source="MONDO:equivalentTo"}
is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency
is_a: MONDO:0018037 {source="Orphanet:656912", source="https://orcid.org/0000-0002-4142-7153"} ! hyper-IgE syndrome

[Term]
id: MONDO:0958122
name: idiopathic small fibers neuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658549"}
subset: orphanet_rare {source="Orphanet:658549"}
subset: rare
xref: Orphanet:658549 {source="MONDO:equivalentTo"}
is_a: MONDO:0005244 {source="https://orcid.org/0000-0002-4142-7153"} ! peripheral neuropathy

[Term]
id: MONDO:0958123
name: isolated pulmonary artery sling
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658574"}
subset: orphanet_rare {source="Orphanet:658574"}
subset: rare
xref: Orphanet:658574 {source="MONDO:equivalentTo"}
is_a: MONDO:0015239 {source="Orphanet:658574"} ! abnormal origin of the pulmonary artery

[Term]
id: MONDO:0958127
name: transplant-related bronchiolitis obliterans
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658602"}
subset: orphanet_rare {source="Orphanet:658602"}
subset: rare
xref: Orphanet:658602 {source="MONDO:equivalentTo"}
is_a: MONDO:0015265 {source="Orphanet:658602", source="https://orcid.org/0000-0002-4142-7153"} ! bronchiolitis obliterans syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0958128
name: non-transplant-related bronchiolitis obliterans
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658612"}
subset: orphanet_rare {source="Orphanet:658612"}
subset: rare
xref: Orphanet:658612 {source="MONDO:equivalentTo"}
is_a: MONDO:0015265 {source="Orphanet:658612"} ! bronchiolitis obliterans syndrome

[Term]
id: MONDO:0958129
name: COQ7-related distal hereditary motor neuropathy
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658778"}
subset: orphanet_rare {source="Orphanet:658778"}
subset: rare
xref: Orphanet:658778 {source="MONDO:equivalentTo"}
is_a: MONDO:0015363 {source="Orphanet:658778"} ! neuronopathy, distal hereditary motor, autosomal recessive
is_a: MONDO:0018151 {source="Orphanet:658778"} ! coenzyme Q10 deficiency

[Term]
id: MONDO:0958130
name: Greig cephalopolysyndactyly-contiguous gene syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658805"}
subset: orphanet_rare {source="Orphanet:658805"}
subset: rare
xref: Orphanet:658805 {source="MONDO:equivalentTo"}
is_a: MONDO:0008287 {source="https://orcid.org/0000-0002-4142-7153"} ! Greig cephalopolysyndactyly syndrome
is_a: MONDO:0015161 {source="Orphanet:658805"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0958137
name: early-onset autoimmune disorder due to DOCK11 partial deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658946"}
subset: orphanet_rare {source="Orphanet:658946"}
subset: rare
xref: Orphanet:658946 {source="MONDO:equivalentTo"}
is_a: MONDO:0957494 {source="https://orcid.org/0000-0002-4142-7153"} ! autoinflammatory disease, multisystem, with immune dysregulation, X-linked

[Term]
id: MONDO:0958138
name: early-onset immune dysregulation due to DOCK11 complete deficiency
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:658951"}
subset: orphanet_rare {source="Orphanet:658951"}
subset: rare
xref: Orphanet:658951 {source="MONDO:equivalentTo"}
is_a: MONDO:0957494 {source="https://orcid.org/0000-0002-4142-7153"} ! autoinflammatory disease, multisystem, with immune dysregulation, X-linked

[Term]
id: MONDO:0958150
name: Borrelia miyamotoi disease
xref: DOID:0070527 {source="MONDO:equivalentTo"}
is_a: MONDO:0000314 {source="DOID:0070527"} ! primary bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:47466 ! Borrelia miyamotoi
relationship: transmitted_by NCBITaxon:6944 {source="PMID:36113496", source="PMID:36839539", source="https://orcid.org/0000-0002-4142-7153"} ! Ixodes

[Term]
id: MONDO:0958151
name: cepacia syndrome
xref: DOID:0070528 {source="MONDO:equivalentTo"}
is_a: MONDO:0000316 {source="DOID:0070528"} ! opportunistic bacterial infectious disease
relationship: disease_has_infectious_agent NCBITaxon:87882 {source="PMID:15463897", source="PMID:33214785", source="PMID:36815622"} ! Burkholderia cepacia complex

[Term]
id: MONDO:0958159
name: sarcoma with BCOR genetic alterations
def: "A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations." [DOID:0081402]
xref: DOID:0081402 {source="MONDO:equivalentTo"}
xref: MEDGEN:1791498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5555057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1791498"}
is_a: MONDO:0006974 {source="DOID:0081402"} ! small cell sarcoma

[Term]
id: MONDO:0958160
name: round cell sarcoma with EWSR1-non-ETS fusion
def: "A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family." [DOID:0081406]
xref: DOID:0081406 {source="MONDO:equivalentTo"}
xref: MEDGEN:1790023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4727985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790023"}
is_a: MONDO:0006974 {source="DOID:0081406"} ! small cell sarcoma

[Term]
id: MONDO:0958161
name: B acute lymphoblastic leukemia with PAX5 P80R mutation
def: "A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation." [DOID:0081411]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081411 {source="MONDO:equivalentTo"}
is_a: MONDO:0004947 {source="DOID:0081411"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0958162
name: B acute lymphoblastic leukemia with DUX4 rearrangement
def: "A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement." [DOID:0081412]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081412 {source="MONDO:equivalentTo"}
is_a: MONDO:0004947 {source="DOID:0081412"} ! B-cell acute lymphoblastic leukemia

[Term]
id: MONDO:0958164
name: poorly differentiated chordoma
def: "A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm." [DOID:0081417]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081417 {source="MONDO:equivalentTo"}
xref: MEDGEN:1791171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5554730 {source="MONDO:equivalentTo", source="MEDGEN:1791171", source="MONDO:MEDGEN"}
is_a: MONDO:0008978 {source="DOID:0081417"} ! chordoma

[Term]
id: MONDO:0958165
name: anaplastic sarcoma of the kidney
def: "A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures." [DOID:0081418]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081418 {source="MONDO:equivalentTo"}
xref: MEDGEN:1661979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4722276 {source="MEDGEN:1661979", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002930 {source="DOID:0081418"} ! kidney sarcoma

[Term]
id: MONDO:0958174
name: basal cell nevus syndrome 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:109400 {source="MONDO:equivalentTo"}
is_a: MONDO:0007187 {source="OMIM:109400"} ! nevoid basal cell carcinoma syndrome

[Term]
id: MONDO:0958175
name: craniofacial microsomia 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:164210 {source="MONDO:equivalentTo"}
is_a: MONDO:0015397 {source="OMIM:164210"} ! craniofacial microsomia

[Term]
id: MONDO:0958176
name: oculopharyngeal muscular dystrophy 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: NCIT:C84942 {source="MONDO:equivalentTo"}
xref: OMIM:164300 {source="MONDO:equivalentTo"}
is_a: MONDO:0008116 {source="OMIM:164300"} ! oculopharyngeal muscular dystrophy

[Term]
id: MONDO:0958177
name: chronic recurrent multifocal osteomyelitis 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:259680 {source="MONDO:equivalentTo"}
is_a: MONDO:0009813 {source="OMIM:259680"} ! chronic recurrent multifocal osteomyelitis

[Term]
id: MONDO:0958178
name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
xref: MEDGEN:1840207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:301108 {source="MONDO:equivalentTo"}
xref: UMLS:C5829571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840207"}
is_a: MONDO:0957400 {source="OMIM:301108"} ! cataracts, hearing impairment, nephrotic syndrome, and enterocolitis

[Term]
id: MONDO:0958179
name: glycine encephalopathy 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:605899 {source="MONDO:equivalentTo"}
is_a: MONDO:0011612 {source="OMIM:605899"} ! glycine encephalopathy

[Term]
id: MONDO:0958180
name: prolonged electroretinal response suppression 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070363 {source="MONDO:equivalentTo"}
xref: MEDGEN:1840510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:608415 {source="MONDO:equivalentTo"}
xref: UMLS:C5829874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840510"}
is_a: MONDO:0012033 {source="OMIM:608415"} ! bradyopsia

[Term]
id: MONDO:0958181
name: mitochondrial trifunctional protein deficiency 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:609015 {source="MONDO:equivalentTo"}
is_a: MONDO:0012172 {source="OMIM:609015"} ! mitochondrial trifunctional protein deficiency

[Term]
id: MONDO:0958182
name: C1Q deficiency 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:613652 {source="MONDO:equivalentTo"}
is_a: MONDO:0013343 {source="OMIM:613652"} ! C1Q deficiency

[Term]
id: MONDO:0958183
name: Leber-like hereditary optic neuropathy, autosomal recessive 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:619382 {source="MONDO:equivalentTo"}
is_a: MONDO:0030309 {source="OMIM:619382"} ! Leber hereditary optic neuropathy, autosomal recessive
is_a: MONDO:0100223 {source="OMIM:619382"} ! mitochondrial complex I deficiency, nuclear type

[Term]
id: MONDO:0958184
name: epidermolytic hyperkeratosis 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081359 {source="MONDO:equivalentTo"}
xref: MEDGEN:1831005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5781877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1831005"}
is_a: MONDO:0007239 {source="OMIM:620150"} ! epidermolytic ichthyosis
intersection_of: MONDO:0007239 ! epidermolytic ichthyosis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6413 ! KRT10
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI

[Term]
id: MONDO:0958185
name: mitochondrial trifunctional protein deficiency 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620300 {source="MONDO:equivalentTo"}
xref: UMLS:C5830374 {source="MEDGEN:1841010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012172 {source="OMIM:620300"} ! mitochondrial trifunctional protein deficiency

[Term]
id: MONDO:0958186
name: hematuria, benign familial, 2
xref: MEDGEN:1841057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620320 {source="MONDO:equivalentTo"}
xref: UMLS:C5830421 {source="MEDGEN:1841057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0957317 {source="OMIM:620320"} ! hematuria, benign familial

[Term]
id: MONDO:0958187
name: C1Q deficiency 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620321 {source="MONDO:equivalentTo"}
xref: UMLS:C5830422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841058"}
is_a: MONDO:0013343 {source="OMIM:620321"} ! C1Q deficiency

[Term]
id: MONDO:0958188
name: C1Q deficiency 3
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620322 {source="MONDO:equivalentTo"}
xref: UMLS:C5830423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841059"}
is_a: MONDO:0013343 {source="OMIM:620322"} ! C1Q deficiency

[Term]
id: MONDO:0958189
name: basal cell nevus syndrome 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070366 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620343 {source="MONDO:equivalentTo"}
xref: UMLS:C5830451 {source="MEDGEN:1841087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0007187 {source="OMIM:620343"} ! nevoid basal cell carcinoma syndrome

[Term]
id: MONDO:0958190
name: prolonged electroretinal response suppression 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0070364 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620344 {source="MONDO:equivalentTo"}
xref: UMLS:C5830452 {source="MEDGEN:1841088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0012033 {source="OMIM:620344"} ! bradyopsia

[Term]
id: MONDO:0958191
name: nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
xref: MEDGEN:1841152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620374 {source="MONDO:equivalentTo"}
xref: UMLS:C5830516 {source="MEDGEN:1841152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0957318 {source="OMIM:620374"} ! nephrolithiasis, calcium oxalate

[Term]
id: MONDO:0958192
name: glycine encephalopathy 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620398 {source="MONDO:equivalentTo"}
xref: UMLS:C5830559 {source="MEDGEN:1841195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0011612 {source="OMIM:620398"} ! glycine encephalopathy

[Term]
id: MONDO:0958193
name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
xref: MEDGEN:1841226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620425 {source="MONDO:equivalentTo"}
xref: UMLS:C5830590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841226"}
is_a: MONDO:0957400 {source="OMIM:620425"} ! cataracts, hearing impairment, nephrotic syndrome, and enterocolitis

[Term]
id: MONDO:0958194
name: craniofacial microsomia 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1830923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620444 {source="MONDO:equivalentTo"}
xref: UMLS:C5781610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1830923"}
is_a: MONDO:0015397 {source="OMIM:620444"} ! craniofacial microsomia

[Term]
id: MONDO:0958195
name: oculopharyngeal muscular dystrophy 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:1841318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620460 {source="MONDO:equivalentTo"}
xref: UMLS:C5830682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841318"}
is_a: MONDO:0008116 {source="OMIM:620460"} ! oculopharyngeal muscular dystrophy

[Term]
id: MONDO:0958196
name: epilepsy, early-onset, 3, with or without developmental delay
xref: DOID:0070472 {source="MONDO:equivalentTo"}
xref: OMIM:620465 {source="MONDO:equivalentTo"}
is_a: MONDO:0957599 {source="OMIM:620465"} ! epilepsy, early-onset

[Term]
id: MONDO:0958197
name: Leber-like hereditary optic neuropathy, autosomal recessive 2
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620569 {source="MONDO:equivalentTo"}
is_a: MONDO:0030309 {source="OMIM:620569"} ! Leber hereditary optic neuropathy, autosomal recessive

[Term]
id: MONDO:0958199
name: myoclonic epilepsy of Lafora 1
def: "Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:254780 {source="MONDO:equivalentTo"}
is_a: MONDO:0009697 {source="OMIM:254780"} ! Lafora disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3413 {source="OMIM:254780"} ! EPM2A

[Term]
id: MONDO:0958200
name: intellectual developmental disorder, x-linked 113
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:301116 {source="MONDO:equivalentTo"}
is_a: MONDO:0019181 {source="OMIM:301116"} ! non-syndromic X-linked intellectual disability

[Term]
id: MONDO:0958201
name: obsolete myoclonic epilepsy of Lafora 2
subset: gard_rare {source="MONDO:GARD"}
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7393" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0800306

[Term]
id: MONDO:0958202
name: moyamoya disease 7
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620687 {source="MONDO:equivalentTo"}
is_a: MONDO:0016820 {source="OMIM:620687"} ! Moyamoya disease

[Term]
id: MONDO:0958203
name: intellectual developmental disorder, autosomal dominant 74
xref: OMIM:620688 {source="MONDO:equivalentTo"}
is_a: MONDO:0100172 {source="OMIM:620688"} ! intellectual disability, autosomal dominant

[Term]
id: MONDO:0958204
name: intellectual developmental disorder, autosomal recessive 81
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620700 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:620700"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0958205
name: Yuksel-Vogel-Bauer syndrome
xref: OMIM:620703 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620703"} ! syndromic disease

[Term]
id: MONDO:0958206
name: spermatogenic failure 89
xref: OMIM:620705 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:620705"} ! spermatogenic failure

[Term]
id: MONDO:0958224
name: encephalopathy, porphyria-related
xref: OMIM:620704 {source="MONDO:equivalentTo"}
is_a: MONDO:0100198 {source="https://orcid.org/0000-0002-4142-7153"} ! Mendelian encephalopathy

[Term]
id: MONDO:0958226
name: leukoencephalopathy, porphyria-related
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620711 {source="MONDO:equivalentTo"}
is_a: MONDO:0019046 {source="https://orcid.org/0000-0002-4142-7153"} ! leukodystrophy

[Term]
id: MONDO:0958227
name: polydactyly-macrocephaly syndrome
xref: OMIM:620712 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0958228
name: hearing loss, autosomal recessive 122
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "deafness, autosomal recessive 122" NARROW [OMIM:620714]
xref: OMIM:620714 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:620714", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0958229
name: bleeding disorder, vascular-type
xref: OMIM:620715 {source="MONDO:equivalentTo"}
is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-4142-7153"} ! vascular disorder

[Term]
id: MONDO:0958230
name: orofaciodigital syndrome 20
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060962 {source="MONDO:equivalentTo"}
xref: OMIM:620718 {source="MONDO:equivalentTo"}
is_a: MONDO:0015375 {source="OMIM:620718", source="https://orcid.org/0000-0002-4142-7153"} ! orofaciodigital syndrome

[Term]
id: MONDO:0958231
name: neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
xref: OMIM:620719 {source="MONDO:equivalentTo"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder

[Term]
id: MONDO:0958232
name: hearing loss, autosomal dominant 90
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "deafness, autosomal dominant 90" NARROW [OMIM:620722]
xref: OMIM:620722 {source="MONDO:equivalentTo"}
is_a: MONDO:0019587 {source="OMIM:620722", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant nonsyndromic hearing loss

[Term]
id: MONDO:0958233
name: Bethlem myopathy 1B
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620725 {source="MONDO:equivalentTo"}
is_a: MONDO:0008029 {source="OMIM:620725", source="https://orcid.org/0000-0002-4142-7153"} ! Bethlem myopathy

[Term]
id: MONDO:0958234
name: Bethlem myopathy 1C
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620726 {source="MONDO:equivalentTo"}
is_a: MONDO:0008029 {source="OMIM:620726", source="https://orcid.org/0000-0002-4142-7153"} ! Bethlem myopathy

[Term]
id: MONDO:0958235
name: Ullrich congenital muscular dystrophy 1B
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060942 {source="MONDO:equivalentTo"}
xref: OMIM:620727 {source="MONDO:equivalentTo"}
is_a: MONDO:0000355 {source="OMIM:620727", source="https://orcid.org/0000-0002-4142-7153"} ! Ullrich congenital muscular dystrophy

[Term]
id: MONDO:0958236
name: Ullrich congenital muscular dystrophy 1C
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060943 {source="MONDO:equivalentTo"}
xref: OMIM:620728 {source="MONDO:equivalentTo"}
is_a: MONDO:0000355 {source="OMIM:620728", source="https://orcid.org/0000-0002-4142-7153"} ! Ullrich congenital muscular dystrophy

[Term]
id: MONDO:0958237
name: isolated hyperferritinemia
synonym: "hyperferritinemia" EXACT [OMIM:620729]
xref: OMIM:620729 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease

[Term]
id: MONDO:0958238
name: hyperemesis gravidarum, susceptibility to
xref: OMIM:620730 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility
relationship: predisposes_towards MONDO:0006791 {source="OMIM:620730", source="https://orcid.org/0000-0002-4142-7153"} ! hyperemesis gravidarum

[Term]
id: MONDO:0958239
name: microphthalmia/coloboma 11
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620731 {source="MONDO:equivalentTo"}
is_a: MONDO:0000170 {source="OMIM:620731", source="https://orcid.org/0000-0002-4142-7153"} ! microphthalmia, isolated, with coloboma

[Term]
id: MONDO:0958240
name: neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
xref: OMIM:620732 {source="MONDO:equivalentTo"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder

[Term]
id: MONDO:0958241
name: cardiomyopathy, familial hypertrophic, 30, atrial
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620734 {source="MONDO:equivalentTo"}
is_a: MONDO:0024573 {source="OMIM:620734", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypertrophic cardiomyopathy

[Term]
id: MONDO:0958242
name: spermatogenic failure 90
xref: OMIM:620744 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:620744", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure

[Term]
id: MONDO:0958256
name: pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641385"}
subset: orphanet_rare {source="Orphanet:641385"}
subset: rare
synonym: "PASS syndrome" EXACT [Orphanet:641385]
xref: Orphanet:641385 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0958257
name: psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641390"}
subset: orphanet_rare {source="Orphanet:641390"}
subset: rare
synonym: "PSAPASH syndrome" EXACT [Orphanet:641390]
xref: Orphanet:641390 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0958258
name: Cushing syndrome due to cortisol-producing adrenocortical adenoma
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:642788"}
subset: orphanet_rare {source="Orphanet:642788"}
subset: rare
xref: Orphanet:642788 {source="MONDO:equivalentTo"}
is_a: MONDO:0020529 {source="Orphanet:642788"} ! ACTH-independent Cushing syndrome

[Term]
id: MONDO:0958259
name: dysraphism with stalk
def: "A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements." [Orphanet:645193]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:645193"}
subset: rare
xref: Orphanet:645193 {source="MONDO:equivalentTo"}
is_a: MONDO:0000859 {source="Orphanet:645193"} ! spina bifida occulta

[Term]
id: MONDO:0958260
name: dysraphic spinal cord lipoma
def: "A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect." [Orphanet:645273]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:645273"}
subset: rare
xref: Orphanet:645273 {source="MONDO:equivalentTo"}
is_a: MONDO:0000859 {source="Orphanet:645273"} ! spina bifida occulta
is_a: MONDO:0001790 {source="Orphanet:645273"} ! spinal cord lipoma

[Term]
id: MONDO:0958262
name: isolated primary pigmented nodular adrenocortical disease
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647772"}
subset: orphanet_rare {source="Orphanet:647772"}
subset: rare
xref: Orphanet:647772 {source="MONDO:equivalentTo"}
is_a: MONDO:0015999 {source="https://orcid.org/0000-0002-4142-7153"} ! primary pigmented nodular adrenocortical disease

[Term]
id: MONDO:0958263
name: isolated micronodular adrenocortical disease
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:647782"}
subset: orphanet_rare {source="Orphanet:647782"}
subset: rare
xref: Orphanet:647782 {source="MONDO:equivalentTo"}
is_a: MONDO:0005495 {source="https://orcid.org/0000-0002-4142-7153"} ! adrenal gland disorder

[Term]
id: MONDO:0958264
name: infectious scleritis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:648665"}
subset: orphanet_rare {source="Orphanet:648665"}
subset: rare
xref: Orphanet:648665 {source="MONDO:equivalentTo"}
is_a: MONDO:0001718 {source="https://orcid.org/0000-0002-4142-7153"} ! scleritis
is_a: MONDO:0005550 {source="https://orcid.org/0000-0002-4142-7153"} ! infectious disease

[Term]
id: MONDO:0958265
name: idiopathic scleritis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:648675"}
subset: orphanet_rare {source="Orphanet:648675"}
subset: rare
xref: Orphanet:648675 {source="MONDO:equivalentTo"}
is_a: MONDO:0001718 {source="https://orcid.org/0000-0002-4142-7153"} ! scleritis

[Term]
id: MONDO:0958266
name: immune-mediated scleritis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:648681"}
subset: orphanet_rare {source="Orphanet:648681"}
subset: rare
xref: Orphanet:648681 {source="MONDO:equivalentTo"}
is_a: MONDO:0001718 {source="https://orcid.org/0000-0002-4142-7153"} ! scleritis

[Term]
id: MONDO:0958267
name: non-syndromic bridging bronchus
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:648992"}
subset: orphanet_rare {source="Orphanet:648992"}
subset: rare
xref: Orphanet:648992 {source="MONDO:equivalentTo"}
is_a: MONDO:0001358 {source="https://orcid.org/0000-0002-4142-7153"} ! bronchial disorder

[Term]
id: MONDO:0958268
name: non-syndromic congenital bronchial atresia
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:649010"}
subset: orphanet_rare {source="Orphanet:649010"}
subset: rare
xref: Orphanet:649010 {source="MONDO:equivalentTo"}
is_a: MONDO:0001358 {source="https://orcid.org/0000-0002-4142-7153"} ! bronchial disorder

[Term]
id: MONDO:0958269
name: isolated left bronchial isomerism
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:649029"}
subset: orphanet_rare {source="Orphanet:649029"}
subset: rare
xref: Orphanet:649029 {source="MONDO:equivalentTo"}
is_a: MONDO:0005087 {source="https://orcid.org/0000-0002-4142-7153"} ! respiratory system disorder

[Term]
id: MONDO:0958270
name: central precocious puberty in male
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:649929"}
subset: rare
xref: Orphanet:649929 {source="MONDO:equivalentTo"}
is_a: MONDO:0019165 {source="Orphanet:649929"} ! central precocious puberty

[Term]
id: MONDO:0958273
name: cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:652514"}
subset: rare
xref: Orphanet:652514 {source="MONDO:equivalentTo"}
is_a: MONDO:0958091 {source="Orphanet:652514"} ! cleft palate-congenital heart defect-intellectual disability syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0958274
name: benign atrophic papulosis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:656085"}
subset: rare
xref: Orphanet:656085 {source="MONDO:equivalentTo"}
is_a: MONDO:0958110 {source="Orphanet:656085"} ! atrophic papulosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0958275
name: segmental spinal dysgenesis
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:656126"}
subset: orphanet_rare {source="Orphanet:656126"}
subset: rare
xref: Orphanet:656126 {source="MONDO:equivalentTo"}
is_a: MONDO:0002320 {source="PMID:31949358", source="https://orcid.org/0000-0002-4142-7153"} ! congenital nervous system disorder
is_a: MONDO:0002545 {source="PMID:31949358", source="https://orcid.org/0000-0002-4142-7153"} ! spinal cord disorder

[Term]
id: MONDO:0958277
name: hearing loss, autosomal recessive 123
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "deafness, autosomal recessive 123" NARROW [OMIM:620745]
xref: OMIM:620745 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:620745", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0958278
name: neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
xref: OMIM:620746 {source="MONDO:equivalentTo"}
is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder

[Term]
id: MONDO:0958279
name: megalencephaly-polydactyly syndrome
xref: OMIM:620748 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0958295
name: BCOR ITD sarcoma
def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication." [DOID:0081403]
xref: DOID:0081403 {source="MONDO:equivalentTo"}
xref: MEDGEN:1791501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5555060 {source="MEDGEN:1791501", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0958159 {source="DOID:0081403"} ! sarcoma with BCOR genetic alterations

[Term]
id: MONDO:0958296
name: BCOR-CCNB3 sarcoma
def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene." [DOID:0081404]
xref: DOID:0081404 {source="MONDO:equivalentTo"}
xref: MEDGEN:1791499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5555058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1791499"}
is_a: MONDO:0958159 {source="DOID:0081404"} ! sarcoma with BCOR genetic alterations

[Term]
id: MONDO:0958297
name: childhood sarcoma with BCOR genetic alterations
def: "A sarcoma with BCOR genetic alterations that occurs during childhood." [DOID:0081405]
xref: DOID:0081405 {source="MONDO:equivalentTo"}
xref: MEDGEN:1817088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5708183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1817088"}
is_a: MONDO:0958159 {source="DOID:0081405"} ! sarcoma with BCOR genetic alterations

[Term]
id: MONDO:0958298
name: childhood round cell sarcoma with EWSR1-non-ETS fusion
def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood." [DOID:0081407]
xref: DOID:0081407 {source="MONDO:equivalentTo"}
xref: MEDGEN:1817086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5708181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1817086"}
is_a: MONDO:0958160 {source="DOID:0081407"} ! round cell sarcoma with EWSR1-non-ETS fusion

[Term]
id: MONDO:0958299
name: round cell sarcoma with EWSR1-NFATC2 gene fusion
def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion." [DOID:0081408]
xref: DOID:0081408 {source="MONDO:equivalentTo"}
xref: MEDGEN:1791493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5555052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1791493"}
is_a: MONDO:0958160 {source="DOID:0081408"} ! round cell sarcoma with EWSR1-non-ETS fusion

[Term]
id: MONDO:0958300
name: round cell sarcoma with EWSR1-PATZ1 gene fusion
def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion." [DOID:0081409]
xref: DOID:0081409 {source="MONDO:equivalentTo"}
xref: MEDGEN:1791494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5555053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1791494"}
is_a: MONDO:0958160 {source="DOID:0081409"} ! round cell sarcoma with EWSR1-non-ETS fusion

[Term]
id: MONDO:0958301
name: round cell sarcoma with FUS-NFATC2 gene fusion
def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion." [DOID:0081410]
xref: DOID:0081410 {source="MONDO:equivalentTo"}
xref: MEDGEN:1791495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5555054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1791495"}
is_a: MONDO:0958160 {source="DOID:0081410"} ! round cell sarcoma with EWSR1-non-ETS fusion

[Term]
id: MONDO:0958302
name: TFEB-rearranged renal cell carcinoma
def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene." [DOID:0081414|https\://orcid.org/0000-0002-4142-7153]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081414 {source="MONDO:equivalentTo"}
xref: MEDGEN:1664261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C4745249 {source="MEDGEN:1664261", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0017886 {source="DOID:0081414"} ! MIT family translocation renal cell carcinoma

[Term]
id: MONDO:0958303
name: childhood renal cell carcinoma with MiT translocations
def: "A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood." [DOID:0081416]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081416 {source="MONDO:equivalentTo"}
xref: MEDGEN:1817233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5708328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1817233"}
is_a: MONDO:0017886 {source="DOID:0081416"} ! MIT family translocation renal cell carcinoma

[Term]
id: MONDO:0958322
name: intellectual developmental disorder, x-linked, syndromic 37
xref: OMIM:301118 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="OMIM:301118"} ! X-linked syndromic intellectual disability

[Term]
id: MONDO:0958323
name: neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
xref: OMIM:620747 {source="MONDO:equivalentTo"}
is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620747"} ! Mendelian neurodevelopmental disorder

[Term]
id: MONDO:0958324
name: generalized epilepsy with febrile seizures plus, type 12
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620755 {source="MONDO:equivalentTo"}
is_a: MONDO:0018214 {source="OMIM:620755"} ! generalized epilepsy with febrile seizures plus

[Term]
id: MONDO:0958325
name: thrombocytopenia 12 with or without myopathy
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620757 {source="MONDO:equivalentTo"}
is_a: MONDO:0100241 {source="OMIM:620757"} ! inherited thrombocytopenia

[Term]
id: MONDO:0958326
name: macular dystrophy with or without cone dysfunction
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620762 {source="MONDO:equivalentTo"}
is_a: MONDO:0020242 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620762"} ! hereditary macular dystrophy

[Term]
id: MONDO:0958328
name: Seckel syndrome 11
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620767 {source="MONDO:equivalentTo"}
is_a: MONDO:0019342 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620767"} ! Seckel syndrome

[Term]
id: MONDO:0958329
name: Jeffries-Lakhani neurodevelopmental syndrome
xref: OMIM:620771 {source="MONDO:equivalentTo"}
is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620771"} ! Mendelian neurodevelopmental disorder

[Term]
id: MONDO:0958330
name: developmental and epileptic encephalopathy 113
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620772 {source="MONDO:equivalentTo"}
is_a: MONDO:0100062 {source="OMIM:620772"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0958331
name: developmental and epileptic encephalopathy 114
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620774 {source="MONDO:equivalentTo"}
is_a: MONDO:0100062 {source="OMIM:620774"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0958332
name: neuromuscular disorder, congenital, with dysmorphic facies
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620775 {source="MONDO:equivalentTo"}
is_a: MONDO:0100546 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620775"} ! hereditary neuromuscular disease

[Term]
id: MONDO:0958333
name: thrombocytopenia 13, syndromic
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620776 {source="MONDO:equivalentTo"}
is_a: MONDO:0100241 {source="OMIM:620776", source="https://orcid.org/0000-0002-4142-7153"} ! inherited thrombocytopenia

[Term]
id: MONDO:0958334
name: pulmonary hypertension, primary, 6
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620777 {source="MONDO:equivalentTo"}
is_a: MONDO:0017148 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620777"} ! heritable pulmonary arterial hypertension

[Term]
id: MONDO:0958335
name: cutis laxa, autosomal recessive, type 1d
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620780 {source="MONDO:equivalentTo"}
is_a: MONDO:0019572 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620780"} ! autosomal recessive cutis laxa type 1
is_a: MONDO:0100237 {source="OMIM:620780"} ! inherited cutis laxa

[Term]
id: MONDO:0958342
name: isolated optic nerve aplasia
def: "A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations." [Orphanet:637064]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:637064"}
subset: orphanet_rare {source="Orphanet:637064"}
subset: rare
xref: Orphanet:637064 {source="MONDO:equivalentTo"}
is_a: MONDO:0002135 {source="https://orcid.org/0000-0002-4142-7153"} ! optic nerve disorder

[Term]
id: MONDO:0958343
name: PAPASH syndrome
def: "A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently." [Orphanet:641380]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:641380"}
subset: orphanet_rare {source="Orphanet:641380"}
subset: rare
xref: Orphanet:641380 {source="MONDO:equivalentTo"}
is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-4142-7153"} ! autoinflammatory syndrome

[Term]
id: MONDO:0958344
name: spinal dermal sinus
def: "A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery." [Orphanet:645188]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645188"}
subset: orphanet_rare {source="Orphanet:645188"}
subset: rare
xref: Orphanet:645188 {source="MONDO:equivalentTo"}
is_a: MONDO:0958259 {source="Orphanet:645188"} ! dysraphism with stalk

[Term]
id: MONDO:0958345
name: limited dorsal myeloschisis
def: "A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present." [Orphanet:645196]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:645196"}
subset: rare
xref: Orphanet:645196 {source="MONDO:equivalentTo"}
is_a: MONDO:0958259 {source="Orphanet:645196"} ! dysraphism with stalk

[Term]
id: MONDO:0958346
name: isolated transitional filum lipoma
def: "A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma." [Orphanet:645322]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645322"}
subset: orphanet_rare {source="Orphanet:645322"}
subset: rare
xref: Orphanet:645322 {source="MONDO:equivalentTo"}
is_a: MONDO:0958260 {source="https://orcid.org/0000-0002-4142-7153"} ! dysraphic spinal cord lipoma

[Term]
id: MONDO:0958347
name: isolated filum lipoma
def: "A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation." [Orphanet:645325]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645325"}
subset: orphanet_rare {source="Orphanet:645325"}
subset: rare
xref: Orphanet:645325 {source="MONDO:equivalentTo"}
is_a: MONDO:0958260 {source="https://orcid.org/0000-0002-4142-7153"} ! dysraphic spinal cord lipoma

[Term]
id: MONDO:0958348
name: retained medullary cord
def: "A rare closed dysraphism with terminal stalk characterized by persistent rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus." [Orphanet:645334]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645334"}
subset: orphanet_rare {source="Orphanet:645334"}
subset: rare
xref: Orphanet:645334 {source="MONDO:equivalentTo"}
is_a: MONDO:0958259 {source="Orphanet:645334"} ! dysraphism with stalk

[Term]
id: MONDO:0958349
name: dorsal spinal cord lipoma
def: "A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities." [Orphanet:645362]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:645362"}
subset: orphanet_rare {source="Orphanet:645362"}
subset: rare
xref: Orphanet:645362 {source="MONDO:equivalentTo"}
is_a: MONDO:0958260 {source="Orphanet:645362"} ! dysraphic spinal cord lipoma

[Term]
id: MONDO:0958350
name: conus spinal cord lipoma
def: "A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus." [Orphanet:645367]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_group_of_disorders {source="Orphanet:645367"}
subset: rare
xref: Orphanet:645367 {source="MONDO:equivalentTo"}
is_a: MONDO:0958260 {source="Orphanet:645367"} ! dysraphic spinal cord lipoma

[Term]
id: MONDO:0958351
name: hemi-myeloschisis
def: "A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis." [Orphanet:645393]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:645393"}
subset: rare
xref: Orphanet:645393 {source="MONDO:equivalentTo"}
is_a: MONDO:0958076 {source="Orphanet:645393"} ! myeloschisis

[Term]
id: MONDO:0958352
name: true myeloschisis
def: "A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation)." [Orphanet:645401]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:645401"}
subset: rare
xref: Orphanet:645401 {source="MONDO:equivalentTo"}
is_a: MONDO:0958076 {source="Orphanet:645401"} ! myeloschisis

[Term]
id: MONDO:0958353
name: intermediate collagen VI-related muscular dystrophy
def: "A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years." [Orphanet:646113]
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:646113"}
subset: orphanet_rare {source="Orphanet:646113"}
subset: rare
xref: Orphanet:646113 {source="MONDO:equivalentTo"}
is_a: MONDO:0958077 {source="Orphanet:646113"} ! collagen 6-related congenital muscular dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0958354
name: genetic central precocious puberty in female
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:650077"}
subset: orphanet_rare {source="Orphanet:650077"}
subset: rare
xref: Orphanet:650077 {source="MONDO:equivalentTo"}
is_a: MONDO:0019165 {source="https://orcid.org/0000-0002-4142-7153"} ! central precocious puberty

[Term]
id: MONDO:0958355
name: secondary central precocious puberty in female
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:650082"}
subset: orphanet_rare {source="Orphanet:650082"}
subset: rare
xref: Orphanet:650082 {source="MONDO:equivalentTo"}
is_a: MONDO:0019165 {source="https://orcid.org/0000-0002-4142-7153"} ! central precocious puberty

[Term]
id: MONDO:0958356
name: primary central precocious puberty in male
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:650087"}
subset: orphanet_rare {source="Orphanet:650087"}
subset: rare
xref: Orphanet:650087 {source="MONDO:equivalentTo"}
is_a: MONDO:0958270 {source="Orphanet:650087"} ! central precocious puberty in male

[Term]
id: MONDO:0958357
name: secondary central precocious puberty in male
subset: gard_rare {source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:650092"}
subset: orphanet_rare {source="Orphanet:650092"}
subset: rare
xref: Orphanet:650092 {source="MONDO:equivalentTo"}
is_a: MONDO:0958270 {source="Orphanet:650092"} ! central precocious puberty in male

[Term]
id: MONDO:0968944
name: intellectual developmental disorder, autosomal recessive 82
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0060947 {source="MONDO:equivalentTo"}
xref: OMIM:620779 {source="MONDO:equivalentTo"}
is_a: MONDO:0019502 {source="OMIM:620779"} ! autosomal recessive non-syndromic intellectual disability

[Term]
id: MONDO:0968945
name: neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
xref: OMIM:620782 {source="MONDO:equivalentTo"}
is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620782"} ! Mendelian neurodevelopmental disorder

[Term]
id: MONDO:0968946
name: developmental and epileptic encephalopathy 115
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIM:620783 {source="MONDO:equivalentTo"}
is_a: MONDO:0100062 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620783"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0968947
name: neurodevelopmental disorder plus optic atrophy
xref: OMIM:620784 {source="MONDO:equivalentTo"}
is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620784"} ! Mendelian neurodevelopmental disorder

[Term]
id: MONDO:0968949
name: palmoplantar keratoderma, epidermolytic
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:354561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIMPS:144200 {source="MONDO:equivalentTo"}
xref: UMLS:C1721006 {source="MEDGEN:354561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0006590 {source="https://orcid.org/0000-0002-4142-7153|OMIMPS:144200"} ! palmoplantar keratosis
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:144200"} ! inherited

[Term]
id: MONDO:0968951
name: hypouricemia, renal
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: OMIMPS:220150 {source="MONDO:equivalentTo"}
is_a: MONDO:0009071 {source="https://orcid.org/0000-0002-4142-7153|OMIMPS:220150"} ! hereditary renal hypouricemia
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:220150"} ! inherited

[Term]
id: MONDO:0968955
name: hypocalcified amelogenesis imperfecta
subset: gard_rare {source="GARD:16931", source="MONDO:GARD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:100032"}
subset: rare
synonym: "amelogenesis imperfecta type 3" EXACT [Orphanet:100032]
xref: GARD:16931 {source="MONDO:GARD"}
xref: MEDGEN:140773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:100032 {source="MONDO:equivalentTo"}
xref: UMLS:C0399376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140773"}
is_a: MONDO:0019507 {source="Orphanet:100032"} ! amelogenesis imperfecta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7708" xsd:anyURI

[Term]
id: MONDO:0968959
name: isolated arhinencephaly
def: "Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia." [Orphanet:268936]
subset: gard_rare {source="GARD:20979", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:268936"}
subset: orphanet_rare {source="Orphanet:268936"}
subset: rare
xref: GARD:20979 {source="MONDO:GARD"}
xref: MEDGEN:1650277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:268936 {source="MONDO:equivalentTo"}
xref: UMLS:C4749732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1650277"}
is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation

[Term]
id: MONDO:0968974
name: large B-cell lymphoma
def: "A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters." [DOID:0081452]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: DOID:0081452 {source="MONDO:equivalentTo"}
is_a: MONDO:0004095 {source="DOID:0081452"} ! B-cell neoplasm
is_a: MONDO:0005062 {source="https://orcid.org/0000-0002-4142-7153"} ! lymphoma

[Term]
id: MONDO:0968976
name: neurodevelopmental disorder with progressive movement abnormalities
xref: OMIM:620785 {source="MONDO:equivalentTo"}
is_a: MONDO:0700092 {source="OMIM:620785", source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder

[Term]
id: MONDO:0968977
name: basal ganglia calcification, idiopathic, 9, autosomal recessive
subset: inferred_rare
subset: rare
xref: OMIM:620786 {source="MONDO:equivalentTo"}
is_a: MONDO:0008947 {source="OMIM:620786", source="https://orcid.org/0000-0002-4142-7153"} ! bilateral striopallidodentate calcinosis

[Term]
id: MONDO:0968978
name: aplasia cutis-enamel dysplasia syndrome
xref: OMIM:620789 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="OMIM:620789", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0968979
name: neurodevelopmental disorder with hypotonia and seizures
xref: OMIM:620790 {source="MONDO:equivalentTo"}
is_a: MONDO:0700092 {source="OMIM:620790", source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder

[Term]
id: MONDO:0968980
name: otosclerosis 12
subset: inferred_rare
subset: rare
xref: OMIM:620792 {source="MONDO:equivalentTo"}
is_a: MONDO:0005349 {source="OMIM:620792", source="https://orcid.org/0000-0002-4142-7153"} ! otosclerosis

[Term]
id: MONDO:0968981
name: autosomal recessive nonsyndromic hearing loss 124
subset: inferred_rare
subset: rare
synonym: "deafness, autosomal recessive 124" NARROW [OMIM:620794]
xref: OMIM:620794 {source="MONDO:equivalentTo"}
is_a: MONDO:0019588 {source="OMIM:620794", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql

[Term]
id: MONDO:0968982
name: autoinflammation with episodic fever and immune dysregulation
xref: OMIM:620795 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:620795", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary disease

[Term]
id: MONDO:0968983
name: proteasome-associated autoinflammatory syndrome 6
subset: inferred_rare
subset: rare
xref: OMIM:620796 {source="MONDO:equivalentTo"}
is_a: MONDO:0009726 {source="OMIM:620796", source="https://orcid.org/0000-0002-4142-7153"} ! proteosome-associated autoinflammatory syndrome

[Term]
id: MONDO:0968986
name: chaotic conus spinal cord lipoma
def: "A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery." [Orphanet:645285]
subset: ordo_disorder {source="Orphanet:645285"}
subset: orphanet_rare {source="Orphanet:645285"}
subset: rare
xref: Orphanet:645285 {source="MONDO:equivalentTo"}
is_a: MONDO:0958350 {source="Orphanet:645285", source="https://orcid.org/0000-0002-4142-7153"} ! conus spinal cord lipoma

[Term]
id: MONDO:0968987
name: extramedullary conus spinal cord lipoma
def: "A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs." [Orphanet:645297]
subset: ordo_disorder {source="Orphanet:645297"}
subset: orphanet_rare {source="Orphanet:645297"}
subset: rare
xref: Orphanet:645297 {source="MONDO:equivalentTo"}
is_a: MONDO:0958350 {source="Orphanet:645297", source="https://orcid.org/0000-0002-4142-7153"} ! conus spinal cord lipoma

[Term]
id: MONDO:0968988
name: saccular spinal dysraphism with a stalk to the dome
def: "A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation)." [Orphanet:645319]
subset: inferred_rare
subset: ordo_group_of_disorders {source="Orphanet:645319"}
subset: rare
xref: Orphanet:645319 {source="MONDO:equivalentTo"}
is_a: MONDO:0017069 {source="Orphanet:645319", source="https://orcid.org/0000-0002-4142-7153"} ! spina bifida cystica
is_a: MONDO:0958345 {source="Orphanet:645319", source="https://orcid.org/0000-0002-4142-7153"} ! limited dorsal myeloschisis

[Term]
id: MONDO:0968989
name: non-saccular limited dorsal myeloschisis
def: "A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity." [Orphanet:645343]
subset: ordo_disorder {source="Orphanet:645343"}
subset: orphanet_rare {source="Orphanet:645343"}
subset: rare
xref: Orphanet:645343 {source="MONDO:equivalentTo"}
is_a: MONDO:0958345 {source="Orphanet:645343", source="https://orcid.org/0000-0002-4142-7153"} ! limited dorsal myeloschisis

[Term]
id: MONDO:0968990
name: genetic central precocious puberty in male
subset: inferred_rare
subset: ordo_subtype_of_a_disorder {source="Orphanet:650097"}
subset: rare
xref: Orphanet:650097 {source="MONDO:equivalentTo"}
is_a: MONDO:0958356 {source="Orphanet:650097", source="https://orcid.org/0000-0002-4142-7153"} ! primary central precocious puberty in male

[Term]
id: MONDO:0968991
name: non-genetic central precocious puberty in male
subset: inferred_rare
subset: ordo_subtype_of_a_disorder {source="Orphanet:650102"}
subset: rare
xref: Orphanet:650102 {source="MONDO:equivalentTo"}
is_a: MONDO:0958356 {source="Orphanet:650102", source="https://orcid.org/0000-0002-4142-7154"} ! primary central precocious puberty in male

[Term]
id: MONDO:0970943
name: spermatogenic failure, x-linked, 8
xref: OMIM:301119 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:301119", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure

[Term]
id: MONDO:0970944
name: Leigh syndrome, mitochondrial
xref: OMIM:500017 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0970945
name: developmental and epileptic encephalopathy 116
subset: inferred_rare
subset: rare
xref: DOID:0070545 {source="MONDO:equivalentTo"}
xref: OMIM:620806 {source="MONDO:equivalentTo"}
is_a: MONDO:0100062 {source="OMIM:620806", source="https://orcid.org/0000-0002-4142-7153"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0970950
name: Rothmund-Thomson syndrome, type 4
subset: inferred_rare
subset: rare
xref: OMIM:620819 {source="MONDO:equivalentTo"}
is_a: MONDO:0010002 {source="OMIM:620819", source="https://orcid.org/0000-0002-4142-7153"} ! Rothmund-Thomson syndrome

[Term]
id: MONDO:0970951
name: El Hayek-Chahrour neurodevelopmental disorder
xref: OMIM:620820 {source="MONDO:equivalentTo"}
is_a: MONDO:0700092 ! neurodevelopmental disorder

[Term]
id: MONDO:0970952
name: spermatogenic failure 91
xref: OMIM:620838 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:620838", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure

[Term]
id: MONDO:0970957
name: terminal extramedullary conus spinal cord lipoma
def: "A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus." [Orphanet:645288]
subset: inferred_rare
subset: ordo_subtype_of_a_disorder {source="Orphanet:645288"}
subset: rare
xref: Orphanet:645288 {source="MONDO:equivalentTo"}
is_a: MONDO:0968987 {source="Orphanet:645288", source="https://orcid.org/0000-0002-4142-7155"} ! extramedullary conus spinal cord lipoma

[Term]
id: MONDO:0970958
name: transitional extramedullary conus spinal cord lipoma
def: "A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-\"transitional\" between posterior and terminal conus region spinal cord lipoma." [Orphanet:645291]
subset: inferred_rare
subset: ordo_subtype_of_a_disorder {source="Orphanet:645291"}
subset: rare
xref: Orphanet:645291 {source="MONDO:equivalentTo"}
is_a: MONDO:0968987 {source="Orphanet:645291", source="https://orcid.org/0000-0002-4142-7156"} ! extramedullary conus spinal cord lipoma

[Term]
id: MONDO:0970959
name: posterior extramedullary conus spinal cord lipoma
def: "A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated." [Orphanet:645294]
subset: inferred_rare
subset: ordo_subtype_of_a_disorder {source="Orphanet:645294"}
subset: rare
xref: Orphanet:645294 {source="MONDO:equivalentTo"}
is_a: MONDO:0968987 {source="Orphanet:645294", source="https://orcid.org/0000-0002-4142-7157"} ! extramedullary conus spinal cord lipoma

[Term]
id: MONDO:0970960
name: lipomatous non-saccular limited dorsal myeloschisis
def: "A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers." [Orphanet:645300]
subset: inferred_rare
subset: ordo_subtype_of_a_disorder {source="Orphanet:645300"}
subset: rare
xref: Orphanet:645300 {source="MONDO:equivalentTo"}
is_a: MONDO:0968989 {source="Orphanet:645300", source="https://orcid.org/0000-0002-4142-7158"} ! non-saccular limited dorsal myeloschisis

[Term]
id: MONDO:0970961
name: fibroneural non-saccular limited dorsal myeloschisis
def: "A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues." [Orphanet:645310]
subset: inferred_rare
subset: ordo_subtype_of_a_disorder {source="Orphanet:645310"}
subset: rare
xref: Orphanet:645310 {source="MONDO:equivalentTo"}
is_a: MONDO:0968989 {source="Orphanet:645310", source="https://orcid.org/0000-0002-4142-7159"} ! non-saccular limited dorsal myeloschisis

[Term]
id: MONDO:0970962
name: terminal myelocystocele
def: "A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele)." [Orphanet:645337]
subset: ordo_disorder {source="Orphanet:645337"}
subset: orphanet_rare {source="Orphanet:645337"}
subset: rare
xref: Orphanet:645337 {source="MONDO:equivalentTo"}
is_a: MONDO:0017077 {source="Orphanet:645337", source="https://orcid.org/0000-0002-4142-7160"} ! myelocystocele
is_a: MONDO:0968988 {source="Orphanet:645337", source="https://orcid.org/0000-0002-4142-7160"} ! saccular spinal dysraphism with a stalk to the dome

[Term]
id: MONDO:0970963
name: saccular limited dorsal myeloschisis
def: "A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present." [Orphanet:645354]
subset: ordo_disorder {source="Orphanet:645354"}
subset: orphanet_rare {source="Orphanet:645354"}
subset: rare
xref: Orphanet:645354 {source="MONDO:equivalentTo"}
is_a: MONDO:0968988 {source="Orphanet:645354", source="https://orcid.org/0000-0002-4142-7161"} ! saccular spinal dysraphism with a stalk to the dome

[Term]
id: MONDO:0970964
name: myelic limited dorsal malformation
def: "A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized." [Orphanet:645378]
subset: ordo_disorder {source="Orphanet:645378"}
subset: orphanet_rare {source="Orphanet:645378"}
subset: rare
xref: Orphanet:645378 {source="MONDO:equivalentTo"}
is_a: MONDO:0968988 {source="Orphanet:645378", source="https://orcid.org/0000-0002-4142-7162"} ! saccular spinal dysraphism with a stalk to the dome

[Term]
id: MONDO:0970993
name: immunodeficiency 119
xref: OMIM:620825 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="OMIM:620825", source="https://orcid.org/0000-0002-4142-7153"} ! immunodeficiency disease

[Term]
id: MONDO:0970994
name: immunodeficiency 120
xref: OMIM:620836 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="OMIM:620836", source="https://orcid.org/0000-0002-4142-7153"} ! immunodeficiency disease

[Term]
id: MONDO:0970995
name: premature ovarian failure 24
subset: inferred_rare
subset: rare
xref: OMIM:620840 {source="MONDO:equivalentTo"}
is_a: MONDO:0019852 {source="OMIM:620840", source="https://orcid.org/0000-0002-4142-7153"} ! inherited primary ovarian failure

[Term]
id: MONDO:0970998
name: auroneurodental syndrome
xref: OMIM:620830 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease

[Term]
id: MONDO:0970999
name: spermatogenic failure 92
xref: OMIM:620848 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:620848", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure

[Term]
id: MONDO:0971000
name: spermatogenic failure 93
xref: OMIM:620849 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:620849", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure

[Term]
id: MONDO:0971001
name: immunodeficiency 121 with autoinflammation
xref: OMIM:620807 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="OMIM:620807", source="https://orcid.org/0000-0002-4142-7165"} ! immunodeficiency disease

[Term]
id: MONDO:0971002
name: spermatogenic failure 94
xref: OMIM:620850 {source="MONDO:equivalentTo"}
is_a: MONDO:0004983 {source="OMIM:620850", source="https://orcid.org/0000-0002-4142-7153"} ! spermatogenic failure

[Term]
id: MONDO:0971004
name: amyloidosis, hereditary systemic 1
subset: inferred_rare
subset: rare
xref: OMIM:105210 {source="MONDO:equivalentTo"}
is_a: MONDO:0007100 {source="OMIM:105210", source="https://orcid.org/0000-0002-4142-7154"} ! familial amyloid neuropathy

[Term]
id: MONDO:0971005
name: MHC class II deficiency 1
subset: inferred_rare
subset: rare
xref: OMIM:209920 {source="MONDO:equivalentTo"}
is_a: MONDO:0008855 {source="OMIM:209920", source="https://orcid.org/0000-0002-4142-7166"} ! MHC class II deficiency
is_a: MONDO:0031520 {source="OMIM:209920", source="https://orcid.org/0000-0002-4142-7166"} ! familial severe combined immunodeficiency

[Term]
id: MONDO:0971006
name: MHC class I deficiency 1
subset: inferred_rare
subset: rare
xref: OMIM:604571 {source="MONDO:equivalentTo"}
is_a: MONDO:0011476 {source="OMIM:604571", source="https://orcid.org/0000-0002-4142-7162"} ! MHC class I deficiency

[Term]
id: MONDO:0971007
name: neuroocular syndrome 1
xref: OMIM:619539 {source="MONDO:equivalentTo"}
is_a: MONDO:0859193 {source="OMIM:619539", source="https://orcid.org/0000-0002-4142-7167"} ! neuroocular syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:0971008
name: amyloidosis, hereditary systemic 3
subset: inferred_rare
subset: rare
xref: OMIM:620657 {source="MONDO:equivalentTo"}
is_a: MONDO:0007100 {source="OMIM:620657", source="https://orcid.org/0000-0002-4142-7155"} ! familial amyloid neuropathy

[Term]
id: MONDO:0971009
name: amyloidosis, hereditary systemic 5
subset: inferred_rare
subset: rare
xref: OMIM:620658 {source="MONDO:equivalentTo"}
is_a: MONDO:0007100 {source="OMIM:620658", source="https://orcid.org/0000-0002-4142-7156"} ! familial amyloid neuropathy

[Term]
id: MONDO:0971010
name: amyloidosis, hereditary systemic 6
subset: inferred_rare
subset: rare
xref: OMIM:620659 {source="MONDO:equivalentTo"}
is_a: MONDO:0007100 {source="OMIM:620659", source="https://orcid.org/0000-0002-4142-7157"} ! familial amyloid neuropathy

[Term]
id: MONDO:0971011
name: MHC class I deficiency 2
subset: inferred_rare
subset: rare
xref: OMIM:620813 {source="MONDO:equivalentTo"}
is_a: MONDO:0011476 {source="OMIM:620813", source="https://orcid.org/0000-0002-4142-7163"} ! MHC class I deficiency

[Term]
id: MONDO:0971012
name: MHC class I deficiency 3
subset: inferred_rare
subset: rare
xref: OMIM:620814 {source="MONDO:equivalentTo"}
is_a: MONDO:0011476 {source="OMIM:620814", source="https://orcid.org/0000-0002-4142-7164"} ! MHC class I deficiency

[Term]
id: MONDO:0971013
name: MHC class II deficiency 2
subset: inferred_rare
subset: rare
xref: OMIM:620815 {source="MONDO:equivalentTo"}
is_a: MONDO:0008855 {source="OMIM:620815", source="https://orcid.org/0000-0002-4142-7158"} ! MHC class II deficiency

[Term]
id: MONDO:0971014
name: MHC class II deficiency 3
subset: inferred_rare
subset: rare
xref: OMIM:620816 {source="MONDO:equivalentTo"}
is_a: MONDO:0008855 {source="OMIM:620816", source="https://orcid.org/0000-0002-4142-7159"} ! MHC class II deficiency

[Term]
id: MONDO:0971015
name: MHC class II deficiency 4
subset: inferred_rare
subset: rare
xref: OMIM:620817 {source="MONDO:equivalentTo"}
is_a: MONDO:0008855 {source="OMIM:620817", source="https://orcid.org/0000-0002-4142-7160"} ! MHC class II deficiency

[Term]
id: MONDO:0971016
name: MHC class II deficiency 5
subset: inferred_rare
subset: rare
xref: OMIM:620818 {source="MONDO:equivalentTo"}
is_a: MONDO:0008855 {source="OMIM:620818", source="https://orcid.org/0000-0002-4142-7161"} ! MHC class II deficiency

[Term]
id: MONDO:0971043
name: neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
xref: OMIM:620852 {source="MONDO:equivalentTo"}
is_a: MONDO:0100500 {source="https://orcid.org/0000-0002-4142-7153"} ! Mendelian neurodevelopmental disorder

[Term]
id: MONDO:0971044
name: Ehlers-Danlos syndrome, classic-like, 3
subset: inferred_rare
subset: rare
xref: OMIM:620865 {source="MONDO:equivalentTo"}
is_a: MONDO:0020066 {source="OMIM:620865", source="https://orcid.org/0000-0002-4142-7153"} ! Ehlers-Danlos syndrome

[Term]
id: MONDO:1010000
name: pythiosis
def: "A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." [MESH:D058968] {source="https://orcid.org/0000-0002-5002-8648", source="PMID:31845178"}
subset: gard_rare {source="GARD:11989", source="MONDO:GARD"}
subset: mondo_rare {source="https://orcid.org/0000-0001-7697-3026", source="PMID:35205934"}
subset: rare
synonym: "human pythiosis" EXACT [GARD:0011989]
synonym: "pythium insidiosum infection" EXACT [GARD:0011989]
xref: GARD:11989 {source="MONDO:GARD"}
xref: MEDGEN:124447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D058968 {source="MONDO:mondoIsNarrowerThanSource"}
xref: UMLS:C0276912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124447"}
is_a: MONDO:0005550 {source="https://orcid.org/0000-0002-5002-8648"} ! infectious disease
relationship: has_characteristic MONDO:0021136 {source="PMID:35205934", source="https://orcid.org/0000-0001-7697-3026"} ! rare
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5002-8648

[Term]
id: MONDO:1010001
name: epilepsy, non-human animal
def: "Epilepsy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000344"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005027 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog epilepsy

[Term]
id: MONDO:1010002
name: myoclonus, non-human animal
def: "Myoclonus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000689 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000689"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000689"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007868 {source="OMIA:000689"} ! cross-species analog hyperekplexia 1

[Term]
id: MONDO:1010003
name: narcolepsy, non-human animal
def: "Narcolepsy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000703 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000703"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021107 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog narcolepsy

[Term]
id: MONDO:1010004
name: paroxysmal dyskinesia, non-human animal
def: "Paroxysmal dyskinesia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001543 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001543"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015427 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog paroxysmal dyskinesia

[Term]
id: MONDO:1010005
name: autism spectrum disorder, non-human animal
def: "Autism spectrum disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001815 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001815"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005258 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog autism spectrum disorder

[Term]
id: MONDO:1010006
name: Phelan-McDermid syndrome, non-human animal
def: "Phelan-McDermid syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002402 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002402"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011652 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Phelan-McDermid syndrome

[Term]
id: MONDO:1010007
name: subvalvular aortic stenosis, non-human animal
def: "Subvalvular aortic stenosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000052 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000052"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006987 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog subvalvular aortic stenosis

[Term]
id: MONDO:1010008
name: atherosclerosis, non-human animal
def: "Atherosclerosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000080 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000080"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005311 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog atherosclerosis

[Term]
id: MONDO:1010009
name: atrial septal defect, non-human animal
def: "Atrial septal defect that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000089 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000089"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006664 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog atrial septal defect

[Term]
id: MONDO:1010010
name: cardiomyopathy, non-human animal
def: "Cardiomyopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000160"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004994 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cardiomyopathy

[Term]
id: MONDO:1010011
name: dilated cardiomyopathy, non-human animal
def: "Dilated cardiomyopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000162"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005021 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog dilated cardiomyopathy

[Term]
id: MONDO:1010012
name: conotruncal heart malformations, non-human animal
def: "Conotruncal heart malformations that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000224 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000224"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016581 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog conotruncal heart malformations

[Term]
id: MONDO:1010013
name: cor triatriatum dexter, non-human animal
def: "Cor triatriatum dexter that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000227 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000227"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020429 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cor triatriatum dexter

[Term]
id: MONDO:1010014
name: essential hypertension, non-human animal
def: "Essential hypertension that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000510 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000510"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001134 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog essential hypertension

[Term]
id: MONDO:1010015
name: hypertrophic cardiomyopathy, non-human animal
def: "Hypertrophic cardiomyopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000515 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000515"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005045 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hypertrophic cardiomyopathy

[Term]
id: MONDO:1010016
name: mitral valve stenosis, non-human animal
def: "Mitral valve stenosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000655 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000655"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005852 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog mitral valve stenosis

[Term]
id: MONDO:1010017
name: patent ductus arteriosus, non-human animal
def: "Patent ductus arteriosus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000779 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000779"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011827 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog patent ductus arteriosus

[Term]
id: MONDO:1010018
name: persistent truncus arteriosus, non-human animal
def: "Persistent truncus arteriosus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000795 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000795"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018072 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog persistent truncus arteriosus

[Term]
id: MONDO:1010019
name: arrhythmogenic right ventricular cardiomyopathy, non-human animal
def: "Arrhythmogenic right ventricular cardiomyopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000878 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000878"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016587 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog arrhythmogenic right ventricular cardiomyopathy

[Term]
id: MONDO:1010020
name: supravalvular aortic stenosis, non-human animal
def: "Supravalvular aortic stenosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000960 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000960"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008504 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog supravalvular aortic stenosis

[Term]
id: MONDO:1010021
name: tetralogy of fallot, non-human animal
def: "Tetralogy of fallot that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000994 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000994"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008542 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog tetralogy of fallot
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010022
name: ventricular septal defect, non-human animal
def: "Ventricular septal defect that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001041"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002070 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog ventricular septal defect

[Term]
id: MONDO:1010023
name: patent ductus venosus, non-human animal
def: "Patent ductus venosus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001173 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001173"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011089 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog patent ductus venosus

[Term]
id: MONDO:1010024
name: atrial fibrillation, non-human animal
def: "Atrial fibrillation that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001181 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001181"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004981 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog atrial fibrillation

[Term]
id: MONDO:1010025
name: Wolff-Parkinson-White syndrome, non-human animal
def: "Wolff-Parkinson-White syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001194 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001194"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008685 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Wolff-Parkinson-White syndrome

[Term]
id: MONDO:1010026
name: Budd-Chiari syndrome, non-human animal
def: "Budd-Chiari syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001203 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001203"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010947 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Budd-Chiari syndrome

[Term]
id: MONDO:1010027
name: endocardial fibroelastosis, non-human animal
def: "Endocardial fibroelastosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001803 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001803"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009169 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog endocardial fibroelastosis

[Term]
id: MONDO:1010028
name: cerebral amyloid angiopathy, non-human animal
def: "Cerebral amyloid angiopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002138 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002138"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005620 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cerebral amyloid angiopathy

[Term]
id: MONDO:1010029
name: aleutian mink disease, human
def: "A human disease caused by infection with Aleutian mink disease parvovirus." [MONDO:patterns/infectious_disease_by_agent, PMID:19961696]
comment: This disease is considered zoonotic, i.e. able to be transmitted between human and non-human animals (PMID:19961696). In Mondo, we distinguish between human and non-human animal diseases, and we currently do not have a general term to represent a species-agnostic version of the disease. This record is for the human version of “aleutian mink disease”.
xref: DOID:2934 {source="EFO:0007139", source="MONDO:relatedTo"}
xref: ICD9:079.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MESH:D000453 {source="EFO:0007139", source="MONDO:relatedTo", source="DOID:2934"}
xref: SCTID:62251004 {source="MONDO:relatedTo", source="DOID:2934"}
is_a: MONDO:0025371 {source="https://orcid.org/0000-0002-5002-8648"} ! Parvoviridae infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: MONDO:0100332 NCBITaxon:28314 ! disease has primary infectious agent Aleutian mink disease parvovirus
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5002-8648
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6841" xsd:string

[Term]
id: MONDO:1010031
name: triploidy, non-human animal
def: "Triploidy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001180 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001180"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018067 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog triploidy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010032
name: Jacobsen syndrome, non-human animal
def: "Jacobsen syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002558 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002558"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007838 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Jacobsen syndrome

[Term]
id: MONDO:1010033
name: holoprosencephaly, non-human animal
def: "Holoprosencephaly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000478 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000478"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016296 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog holoprosencephaly

[Term]
id: MONDO:1010034
name: cleft lip with or without cleft palate, non-human animal
def: "Cleft lip with or without cleft palate that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001140 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001140"} ! non-human animal disease

[Term]
id: MONDO:1010035
name: mandibulofacial dysostosis, non-human animal
def: "Mandibulofacial dysostosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002288 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002288"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015483 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog mandibulofacial dysostosis

[Term]
id: MONDO:1010036
name: frontonasal dysplasia, non-human animal
def: "Frontonasal dysplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002307 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002307"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016643 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog frontonasal dysplasia

[Term]
id: MONDO:1010037
name: cleft palate, non-human animal
def: "Cleft palate that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000197"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016064 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cleft palate

[Term]
id: MONDO:1010038
name: gingival hypertrophy, non-human animal
def: "Gingival hypertrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000409 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000409"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0003397 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog gingival hypertrophy

[Term]
id: MONDO:1010039
name: megacolon, non-human animal
def: "Megacolon that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000629 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000629"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001273 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog megacolon

[Term]
id: MONDO:1010040
name: pyloric stenosis, non-human animal
def: "Pyloric stenosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000843 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000843"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001561 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog pyloric stenosis

[Term]
id: MONDO:1010041
name: Meckel diverticulum, non-human animal
def: "Meckel diverticulum that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001217 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001217"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007955 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Meckel diverticulum

[Term]
id: MONDO:1010042
name: protein-losing enteropathy, non-human animal
def: "Protein-losing enteropathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001325 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001325"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009174 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog protein-losing enteropathy

[Term]
id: MONDO:1010043
name: cystic fibrosis, non-human animal
def: "Cystic fibrosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001794 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001794"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001794"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009061 {source="OMIA:001794"} ! cross-species analog cystic fibrosis

[Term]
id: MONDO:1010044
name: microvillus inclusion disease, non-human animal
def: "Microvillus inclusion disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002247 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002247"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009635 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog microvillus inclusion disease

[Term]
id: MONDO:1010045
name: diprosopus, non-human animal
def: "Diprosopus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000290 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000290"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015672 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog diprosopus

[Term]
id: MONDO:1010046
name: patent urachus, non-human animal
def: "Patent urachus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000781 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000781"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018551 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog patent urachus

[Term]
id: MONDO:1010047
name: spina bifida, non-human animal
def: "Spina bifida that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000933 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000933"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008449 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog spina bifida

[Term]
id: MONDO:1010048
name: spina bifida occulta, non-human animal
def: "Spina bifida occulta that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000934 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000934"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000859 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog spina bifida occulta
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010049
name: acromegaly, non-human animal
def: "Acromegaly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000008 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000008"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019933 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog acromegaly

[Term]
id: MONDO:1010050
name: congenital adrenal hyperplasia, non-human animal
def: "Congenital adrenal hyperplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000017 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000017"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000017"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018479 {source="OMIA:000017"} ! cross-species analog congenital adrenal hyperplasia

[Term]
id: MONDO:1010051
name: diabetes insipidus, non-human animal
def: "Diabetes insipidus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000278 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000278"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004782 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog diabetes insipidus

[Term]
id: MONDO:1010052
name: diabetes mellitus, non-human animal
def: "Diabetes mellitus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000279"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005015 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog diabetes mellitus

[Term]
id: MONDO:1010053
name: familial goiter, non-human animal
def: "Familial goiter that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000424"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000424"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010135 {source="OMIA:000424"} ! cross-species analog thyroid dyshormonogenesis 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010054
name: hyperparathyroidism, non-human animal
def: "Hyperparathyroidism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000508 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000508"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001741 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hyperparathyroidism

[Term]
id: MONDO:1010055
name: hyperthyroidism, non-human animal
def: "Hyperthyroidism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000511 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000511"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004425 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hyperthyroidism

[Term]
id: MONDO:1010056
name: hypoparathyroidism, non-human animal
def: "Hypoparathyroidism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000528 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000528"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001220 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hypoparathyroidism

[Term]
id: MONDO:1010057
name: congenital hypothyroidism, non-human animal
def: "Congenital hypothyroidism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000536 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000536"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000536"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018612 {source="OMIA:000536"} ! cross-species analog congenital hypothyroidism

[Term]
id: MONDO:1010058
name: exocrine pancreatic insufficiency, non-human animal
def: "Exocrine pancreatic insufficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000765 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000765"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001684 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog exocrine pancreatic insufficiency

[Term]
id: MONDO:1010059
name: thyroiditis, non-human animal
def: "Thyroiditis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001005 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001005"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004126 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog thyroiditis

[Term]
id: MONDO:1010060
name: pheochromocytoma, non-human animal
def: "Pheochromocytoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001268 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001268"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008233 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog pheochromocytoma

[Term]
id: MONDO:1010061
name: hyperaldosteronism, non-human animal
def: "Hyperaldosteronism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001269 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001269"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0003009 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hyperaldosteronism

[Term]
id: MONDO:1010062
name: congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal
def: "Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001661 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001661"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001661"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008729 {source="OMIA:001661"} ! cross-species analog congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010063
name: congenital adrenal hypoplasia, non-human animal
def: "Congenital adrenal hypoplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002060 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002060"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002060"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010264 {source="OMIA:002060"} ! cross-species analog X-linked adrenal hypoplasia congenita

[Term]
id: MONDO:1010066
name: microcephaly, non-human animal
def: "Microcephaly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000645 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000645"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001149 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog microcephaly

[Term]
id: MONDO:1010067
name: omphalocele, non-human animal
def: "Omphalocele that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000741 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000741"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019015 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog omphalocele

[Term]
id: MONDO:1010068
name: situs inversus, non-human animal
def: "Situs inversus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001102 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001102"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010029 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog situs inversus

[Term]
id: MONDO:1010069
name: autoimmune thrombocytopenia, non-human animal
def: "Autoimmune thrombocytopenia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000095 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000095"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019098 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog autoimmune thrombocytopenia

[Term]
id: MONDO:1010070
name: Chediak-Higashi syndrome, non-human animal
def: "Chediak-Higashi syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000185 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000185"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000185"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008963 {source="OMIA:000185"} ! cross-species analog Chediak-Higashi syndrome

[Term]
id: MONDO:1010071
name: factor VII deficiency, non-human animal
def: "Factor VII deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000361 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000361"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000361"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002244 {source="OMIA:000361"} ! cross-species analog factor VII deficiency

[Term]
id: MONDO:1010072
name: factor X deficiency, non-human animal
def: "Factor X deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000362 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000362"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002247 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog factor X deficiency

[Term]
id: MONDO:1010073
name: factor XI deficiency, non-human animal
def: "Factor XI deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000363 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000363"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000363"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020587 {source="OMIA:000363"} ! cross-species analog factor XI deficiency

[Term]
id: MONDO:1010074
name: factor XII deficiency, non-human animal
def: "Factor XII deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000364 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000364"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000364"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009315 {source="OMIA:000364"} ! cross-species analog congenital factor XII deficiency

[Term]
id: MONDO:1010075
name: hemophilia B, non-human animal
def: "Hemophilia B that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000438 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000438"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000438"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010604 {source="OMIA:000438"} ! cross-species analog hemophilia B

[Term]
id: MONDO:1010076
name: hypereosinophilic syndrome, non-human animal
def: "Hypereosinophilic syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000502 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000502"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015691 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hypereosinophilic syndrome

[Term]
id: MONDO:1010077
name: Pelger-Huet anomaly, non-human animal
def: "Pelger-Huet anomaly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000783 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000783"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008214 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Pelger-Huet anomaly

[Term]
id: MONDO:1010078
name: polycythemia, non-human animal
def: "Polycythemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000809 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000809"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005571 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog polycythemia

[Term]
id: MONDO:1010079
name: prekallikrein deficiency, non-human animal
def: "Prekallikrein deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000819 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000819"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000819"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0044744 {source="OMIA:000819"} ! cross-species analog prekallikrein deficiency

[Term]
id: MONDO:1010080
name: thrombocytopenia, non-human animal
def: "Thrombocytopenia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001001 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001001"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002049 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog thrombocytopenia

[Term]
id: MONDO:1010081
name: autoimmune thrombocytopenic purpura, non-human animal
def: "Autoimmune thrombocytopenic purpura that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001104 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001104"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008558 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog autoimmune thrombocytopenic purpura
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010082
name: Evans syndrome, non-human animal
def: "Evans syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001286 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001286"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016030 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Evans syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010083
name: Scott Syndrome, non-human animal
def: "Scott Syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001353 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001353"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001353"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009885 {source="OMIA:001353"} ! cross-species analog Scott syndrome

[Term]
id: MONDO:1010085
name: factor XIII deficiency, non-human animal
def: "Factor XIII deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001818 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001818"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002241 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog factor XIII deficiency

[Term]
id: MONDO:1010086
name: myeloperoxidase deficiency, non-human animal
def: "Myeloperoxidase deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002028 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002028"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002028"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009694 {source="OMIA:002028"} ! cross-species analog myeloperoxidase deficiency

[Term]
id: MONDO:1010090
name: anotia, non-human animal
def: "Anotia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001411 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001411"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019780 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog anotia

[Term]
id: MONDO:1010091
name: microtia, non-human animal
def: "Microtia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001952 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001952"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010920 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog microtia

[Term]
id: MONDO:1010092
name: AA amyloidosis, non-human animal
def: "AA amyloidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000038"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019439 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog AA amyloidosis

[Term]
id: MONDO:1010093
name: AL amyloidosis, non-human animal
def: "AL amyloidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000039 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000039"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019438 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog AL amyloidosis

[Term]
id: MONDO:1010094
name: analphalipoproteinaemia, non-human animal
def: "Analphalipoproteinaemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000042 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000042"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000042"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008783 {source="OMIA:000042"} ! cross-species analog Tangier disease

[Term]
id: MONDO:1010095
name: citrullinemia, non-human animal
def: "Citrullinemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000194 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000194"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000194"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015991 {source="OMIA:000194"} ! cross-species analog citrullinemia

[Term]
id: MONDO:1010099
name: pyruvate kinase deficiency of erythrocyte, non-human animal
def: "Pyruvate kinase deficiency of erythrocyte that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000844 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000844"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000844"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009950 {source="OMIA:000844"} ! cross-species analog pyruvate kinase deficiency of red cells

[Term]
id: MONDO:1010101
name: galactosemia, non-human animal
def: "Galactosemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001144 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001144"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018116 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog galactosemia

[Term]
id: MONDO:1010102
name: porphyria cutanea tarda, non-human animal
def: "Porphyria cutanea tarda that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001176 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001176"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015104 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog porphyria cutanea tarda

[Term]
id: MONDO:1010103
name: eclampsia, non-human animal
def: "Eclampsia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001331 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001331"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001754 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog eclampsia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010104
name: trimethylaminuria (fishy taint), non-human animal
def: "Trimethylaminuria (fishy taint) that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001360 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001360"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001360"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018767 {source="OMIA:001360"} ! cross-species analog severe primary trimethylaminuria

[Term]
id: MONDO:1010105
name: pyruvate dehydrogenase deficiency, non-human animal
def: "Pyruvate dehydrogenase deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001406 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001406"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001406"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019169 {source="OMIA:001406"} ! cross-species analog pyruvate dehydrogenase deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010106
name: multiple acyl-coa dehydrogenase deficiency, non-human animal
def: "Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001457 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001457"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009282 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog multiple acyl-CoA dehydrogenase deficiency

[Term]
id: MONDO:1010107
name: acute intermittent porphyria, non-human animal
def: "Acute intermittent porphyria that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001493 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001493"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001493"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008294 {source="OMIA:001493"} ! cross-species analog acute intermittent porphyria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010109
name: dihydropyrimidinase deficiency, non-human animal
def: "Dihydropyrimidinase deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001776 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001776"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001776"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009111 {source="OMIA:001776"} ! cross-species analog dihydropyrimidinuria

[Term]
id: MONDO:1010110
name: hyperphosphatemia, non-human animal
def: "Hyperphosphatemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002052 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002052"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000328 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hyperphosphatemia

[Term]
id: MONDO:1010113
name: glucocorticoid resistance, non-human animal
def: "Glucocorticoid resistance that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002254 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002254"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002254"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0014421 {source="OMIA:002254"} ! cross-species analog glucocorticoid resistance

[Term]
id: MONDO:1010114
name: phenylketonuria, non-human animal
def: "Phenylketonuria that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002293 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002293"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002293"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009861 {source="OMIA:002293"} ! cross-species analog phenylketonuria

[Term]
id: MONDO:1010115
name: c8 deficiency, non-human animal
def: "C8 deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000156 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000156"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000156"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0013422 {source="OMIA:000156"} ! cross-species analog type I complement component 8 deficiency

[Term]
id: MONDO:1010118
name: systemic lupus erythematosus, non-human animal
def: "Systemic lupus erythematosus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000968 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000968"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007915 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog systemic lupus erythematosus

[Term]
id: MONDO:1010119
name: scleroderma, non-human animal
def: "Scleroderma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001202 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001202"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019340 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog scleroderma

[Term]
id: MONDO:1010121
name: periodic fever syndrome, non-human animal
def: "Periodic fever syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001561 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001561"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015137 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog periodic fever syndrome

[Term]
id: MONDO:1010123
name: common variable immunodeficiency, non-human animal
def: "Common variable immunodeficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001760 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001760"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015517 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog common variable immunodeficiency

[Term]
id: MONDO:1010124
name: autoimmune lymphoproliferative syndrome, non-human animal
def: "Autoimmune lymphoproliferative syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002064 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002064"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017979 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog autoimmune lymphoproliferative syndrome

[Term]
id: MONDO:1010126
name: atopic dermatitis, non-human animal
def: "Atopic dermatitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000269 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000269"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011292 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog dermatitis, atopic

[Term]
id: MONDO:1010127
name: dermatomyositis, non-human animal
def: "Dermatomyositis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000270 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000270"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016367 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog dermatomyositis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010129
name: epidermolysis bullosa, non-human animal
def: "Epidermolysis bullosa that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000340 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000340"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006541 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog epidermolysis bullosa

[Term]
id: MONDO:1010130
name: hypertrichosis, non-human animal
def: "Hypertrichosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000513 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000513"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019280 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hypertrichosis

[Term]
id: MONDO:1010133
name: acrodermatitis enteropathica, non-human animal
def: "Acrodermatitis enteropathica that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000593 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000593"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000593"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008713 {source="OMIA:000593"} ! cross-species analog acrodermatitis enteropathica

[Term]
id: MONDO:1010134
name: pityriasis rosea, non-human animal
def: "Pityriasis rosea that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000801 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000801"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006601 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog pityriasis rosea

[Term]
id: MONDO:1010135
name: protoporphyria, non-human animal
def: "Protoporphyria that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000836 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000836"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000836"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008319 {source="OMIA:000836"} ! cross-species analog protoporphyria, erythropoietic, 1

[Term]
id: MONDO:1010136
name: vitiligo, non-human animal
def: "Vitiligo that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001055 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001055"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008661 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog vitiligo

[Term]
id: MONDO:1010137
name: bullous pemphigoid, non-human animal
def: "Bullous pemphigoid that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001183 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001183"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019082 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog bullous pemphigoid

[Term]
id: MONDO:1010138
name: pemphigus, non-human animal
def: "Pemphigus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001188 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001188"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006594 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog pemphigus

[Term]
id: MONDO:1010139
name: atrichia with papular lesions, non-human animal
def: "Atrichia with papular lesions that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001348 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001348"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008847 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog atrichia with papular lesions

[Term]
id: MONDO:1010140
name: alopecia areata, non-human animal
def: "Alopecia areata that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001702 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001702"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005340 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog alopecia areata

[Term]
id: MONDO:1010141
name: ectodermal dysplasia/skin fragility syndrome, non-human animal
def: "Ectodermal dysplasia/skin fragility syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001864 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001864"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001864"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011472 {source="OMIA:001864"} ! cross-species analog epidermolysis bullosa simplex due to plakophilin deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010142
name: pyoderma, non-human animal
def: "Pyoderma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001877 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001877"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002922 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog pyoderma

[Term]
id: MONDO:1010143
name: incontinentia pigmenti, non-human animal
def: "Incontinentia pigmenti that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001899 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001899"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001899"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010631 {source="OMIA:001899"} ! cross-species analog incontinentia pigmenti

[Term]
id: MONDO:1010147
name: stiff skin syndrome, non-human animal
def: "Stiff skin syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002018 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002018"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008492 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog stiff skin syndrome

[Term]
id: MONDO:1010149
name: tricho-dento-osseous-like syndrome, non-human animal
def: "Tricho-dento-osseous-like syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002109 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002109"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002109"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008592 {source="OMIA:002109"} ! cross-species analog tricho-dento-osseous syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010153
name: Darier disease, non-human animal
def: "Darier disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002265 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002265"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007417 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Darier disease

[Term]
id: MONDO:1010155
name: cutis laxa, non-human animal
def: "Cutis laxa that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002404 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002404"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016175 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cutis laxa
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010156
name: brachydactyly, non-human animal
def: "Brachydactyly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000146 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000146"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021004 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog brachydactyly

[Term]
id: MONDO:1010157
name: hyperostosis, non-human animal
def: "Hyperostosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000507 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000507"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002185 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hyperostosis

[Term]
id: MONDO:1010158
name: polydactyly, non-human animal
def: "Polydactyly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000810"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021003 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog polydactyly

[Term]
id: MONDO:1010159
name: split hand, non-human animal
def: "Split hand that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000942 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000942"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017449 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog split hand

[Term]
id: MONDO:1010160
name: syndactyly, non-human animal
def: "Syndactyly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000963 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000963"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021002 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog syndactyly

[Term]
id: MONDO:1010161
name: tibial hemimelia, non-human animal
def: "Tibial hemimelia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001009 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001009"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010144 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog tibial hemimelia

[Term]
id: MONDO:1010162
name: radial hemimelia, non-human animal
def: "Radial hemimelia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002225 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002225"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019671 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog radial hemimelia

[Term]
id: MONDO:1010163
name: tetradysmelia, non-human animal
def: "Tetradysmelia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002297 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002297"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002297"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0060732 {source="OMIA:002297"} ! cross-species analog tetraamelia syndrome 2

[Term]
id: MONDO:1010164
name: Wilson disease, non-human animal
def: "Wilson disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001071 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001071"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001071"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010200 {source="OMIA:001071"} ! cross-species analog Wilson disease

[Term]
id: MONDO:1010166
name: galactosialidosis, non-human animal
def: "Galactosialidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000400 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000400"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009737 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog galactosialidosis

[Term]
id: MONDO:1010167
name: gangliosidosis, non-human animal
def: "Gangliosidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000401 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000401"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017719 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog gangliosidosis

[Term]
id: MONDO:1010170
name: Krabbe disease, non-human animal
def: "Krabbe disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000578 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000578"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009499 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Krabbe disease

[Term]
id: MONDO:1010171
name: lysosomal storage disease, non-human animal
def: "Lysosomal storage disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000616 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000616"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002561 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog lysosomal storage disease

[Term]
id: MONDO:1010172
name: alpha-mannosidosis, non-human animal
def: "Alpha-mannosidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000625 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000625"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000625"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009561 {source="OMIA:000625"} ! cross-species analog alpha-mannosidosis

[Term]
id: MONDO:1010191
name: deficiency of uridine monophosphate synthase, non-human animal
def: "Deficiency of uridine monophosphate synthase that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000262 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000262"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000262"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009797 {source="OMIA:000262"} ! cross-species analog orotic aciduria

[Term]
id: MONDO:1010192
name: central core myopathy, non-human animal
def: "Central core myopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000172 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000172"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007294 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog central core myopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010195
name: myopathy, non-human animal
def: "Myopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000693 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000693"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005336 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog myopathy

[Term]
id: MONDO:1010196
name: congenital myopathy, non-human animal
def: "Congenital myopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000694 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000694"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019952 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog congenital myopathy

[Term]
id: MONDO:1010197
name: myositis ossificans, non-human animal
def: "Myositis ossificans that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000697 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000697"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0003964 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog myositis ossificans

[Term]
id: MONDO:1010198
name: myotonic dystrophy, non-human animal
def: "Myotonic dystrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000699 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000699"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016107 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog myotonic dystrophy

[Term]
id: MONDO:1010199
name: muscular dystrophy, Duchenne type, non-human animal
def: "Muscular dystrophy, Duchenne type that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001081 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001081"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001081"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010679 {source="OMIA:001081"} ! cross-species analog Duchenne muscular dystrophy

[Term]
id: MONDO:1010201
name: congenital pseudomyotonia, non-human animal
def: "Congenital pseudomyotonia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001464 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001464"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001464"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010977 {source="OMIA:001464"} ! cross-species analog Brody myopathy

[Term]
id: MONDO:1010202
name: myotubular myopathy 1, non-human animal
def: "Myotubular myopathy 1 that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001508 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001508"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001508"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010683 {source="OMIA:001508"} ! cross-species analog X-linked myotubular myopathy

[Term]
id: MONDO:1010203
name: polymyositis, non-human animal
def: "Polymyositis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001874 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001874"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019127 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog polymyositis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010208
name: myofibrillar myopathy, non-human animal
def: "Myofibrillar myopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002330 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002330"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018943 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog myofibrillar myopathy

[Term]
id: MONDO:1010209
name: lymphosarcoma, non-human animal
def: "Lymphosarcoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000615 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000615"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004638 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog lymphosarcoma

[Term]
id: MONDO:1010210
name: malignant histiocytosis, non-human animal
def: "Malignant histiocytosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000620 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000620"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004612 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog malignant histiocytosis

[Term]
id: MONDO:1010211
name: mycosis fungoides, non-human animal
def: "Mycosis fungoides that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001109 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001109"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009691 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog mycosis fungoides

[Term]
id: MONDO:1010212
name: osteosarcoma, non-human animal
def: "Osteosarcoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001441 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001441"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009807 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog osteosarcoma

[Term]
id: MONDO:1010213
name: chronic monocytic leukemia, non-human animal
def: "Chronic monocytic leukemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001573 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001573"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004614 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog chronic monocytic leukemia

[Term]
id: MONDO:1010214
name: non-hodgkin lymphoma, non-human animal
def: "Non-hodgkin lymphoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001708 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001708"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018908 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog non-Hodgkin lymphoma

[Term]
id: MONDO:1010215
name: familial adenomatous polyposis, non-human animal
def: "Familial adenomatous polyposis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001916 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001916"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001916"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021056 {source="OMIA:001916"} ! cross-species analog familial adenomatous polyposis 1

[Term]
id: MONDO:1010216
name: embryonal rhabdomyosarcoma, non-human animal
def: "Embryonal rhabdomyosarcoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001921 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001921"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009993 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog embryonal rhabdomyosarcoma

[Term]
id: MONDO:1010217
name: schwannomatosis, non-human animal
def: "Schwannomatosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001963 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001963"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008075 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog schwannomatosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010220
name: ameloblastoma, non-human animal
def: "Ameloblastoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002171 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002171"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017795 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog ameloblastoma

[Term]
id: MONDO:1010222
name: chronic myelomonocytic leukemia, non-human animal
def: "Chronic myelomonocytic leukemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002299 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002299"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020311 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog chronic myelomonocytic leukemia

[Term]
id: MONDO:1010223
name: prostate cancer, non-human animal
def: "Prostate cancer that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002335 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002335"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008315 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog prostate cancer

[Term]
id: MONDO:1010224
name: benign prostatic hyperplasia, non-human animal
def: "Benign prostatic hyperplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002355 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002355"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010811 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog benign prostatic hyperplasia

[Term]
id: MONDO:1010225
name: cystic hygroma, non-human animal
def: "Cystic hygroma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002369 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002369"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009761 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cystic hygroma

[Term]
id: MONDO:1010226
name: lymphangiosarcoma, non-human animal
def: "Lymphangiosarcoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002476 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002476"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006282 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog lymphangiosarcoma

[Term]
id: MONDO:1010227
name: cauda equina syndrome, non-human animal
def: "Cauda equina syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000170 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000170"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005693 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cauda equina syndrome

[Term]
id: MONDO:1010228
name: Dandy-Walker syndrome, non-human animal
def: "Dandy-Walker syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000258 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000258"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009072 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Dandy-Walker syndrome

[Term]
id: MONDO:1010229
name: dysautonomia, non-human animal
def: "Dysautonomia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000312 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000312"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0044872 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog dysautonomia

[Term]
id: MONDO:1010230
name: hepatic encephalopathy, non-human animal
def: "Hepatic encephalopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000453 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000453"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001711 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hepatic encephalopathy

[Term]
id: MONDO:1010231
name: Huntington disease, non-human animal
def: "Huntington disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000485 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000485"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007739 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Huntington disease

[Term]
id: MONDO:1010232
name: hydranencephaly, non-human animal
def: "Hydranencephaly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000486 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000486"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016344 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hydranencephaly

[Term]
id: MONDO:1010233
name: hydrocephalus, non-human animal
def: "Hydrocephalus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000487"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001150 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hydrocephalus

[Term]
id: MONDO:1010234
name: olivopontocerebellar atrophy, non-human animal
def: "Olivopontocerebellar atrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000740 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000740"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002017 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog olivopontocerebellar atrophy

[Term]
id: MONDO:1010235
name: spinal muscular atrophy, non-human animal
def: "Spinal muscular atrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000939 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000939"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001516 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog spinal muscular atrophy

[Term]
id: MONDO:1010236
name: syringomyelia, non-human animal
def: "Syringomyelia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000965 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000965"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017987 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog syringomyelia

[Term]
id: MONDO:1010237
name: polymicrogyria, non-human animal
def: "Polymicrogyria that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001100 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001100"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000087 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog polymicrogyria

[Term]
id: MONDO:1010238
name: leukodystrophy, non-human animal
def: "Leukodystrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001130 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001130"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019046 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog leukodystrophy

[Term]
id: MONDO:1010239
name: peripheral neuropathy, non-human animal
def: "Peripheral neuropathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001150 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001150"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005244 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog peripheral neuropathy

[Term]
id: MONDO:1010240
name: Horner syndrome, non-human animal
def: "Horner syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001197 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001197"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001294 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Horner syndrome

[Term]
id: MONDO:1010241
name: giant axonal neuropathy, non-human animal
def: "Giant axonal neuropathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001207 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001207"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000128 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog giant axonal neuropathy

[Term]
id: MONDO:1010242
name: Alexander disease, non-human animal
def: "Alexander disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001208 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001208"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001208"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008752 {source="OMIA:001208"} ! cross-species analog Alexander disease

[Term]
id: MONDO:1010243
name: cerebellar degeneration, non-human animal
def: "Cerebellar degeneration that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001221 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001221"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0022687 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cerebellar degeneration

[Term]
id: MONDO:1010244
name: L-2-hydroxyglutaricacidemia, non-human animal
def: "L-2-hydroxyglutaricacidemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001371 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001371"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001371"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009370 {source="OMIA:001371"} ! cross-species analog L-2-hydroxyglutaric aciduria

[Term]
id: MONDO:1010245
name: hyperekplexia, non-human animal
def: "Hyperekplexia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001594 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001594"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001594"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0013827 {source="OMIA:001594"} ! cross-species analog hyperekplexia 3

[Term]
id: MONDO:1010247
name: lissencephaly and cerebellar hypoplasia, non-human animal
def: "Lissencephaly and cerebellar hypoplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001867 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001867"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001867"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009760 {source="OMIA:001867"} ! cross-species analog Norman-Roberts syndrome

[Term]
id: MONDO:1010249
name: ataxia telangiectasia, non-human animal
def: "Ataxia telangiectasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002044 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002044"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002044"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008840 {source="OMIA:002044"} ! cross-species analog ataxia telangiectasia

[Term]
id: MONDO:1010252
name: succinic semialdehyde dehydrogenase deficiency, non-human animal
def: "Succinic semialdehyde dehydrogenase deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002250 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002250"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002250"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010083 {source="OMIA:002250"} ! cross-species analog succinic semialdehyde dehydrogenase deficiency

[Term]
id: MONDO:1010258
name: glomerulonephritis, non-human animal
def: "Glomerulonephritis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000413 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000413"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002462 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog glomerulonephritis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010259
name: nephritis, non-human animal
def: "Nephritis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000708 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000708"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001166 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog nephritis

[Term]
id: MONDO:1010260
name: nephrolithiasis, non-human animal
def: "Nephrolithiasis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000709 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000709"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008171 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog nephrolithiasis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010261
name: nephrotic syndrome, non-human animal
def: "Nephrotic syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000712 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000712"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005377 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog nephrotic syndrome

[Term]
id: MONDO:1010262
name: polycystic kidney disease, non-human animal
def: "Polycystic kidney disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000807"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:000807"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020642 {source="OMIA:000807"} ! cross-species analog polycystic kidney disease

[Term]
id: MONDO:1010264
name: renal hypoplasia, non-human animal
def: "Renal hypoplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000854 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000854"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019637 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog renal hypoplasia

[Term]
id: MONDO:1010265
name: renal hypoplasia, unilateral, non-human animal
def: "Renal hypoplasia, unilateral that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000855 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000855"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019979 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog renal hypoplasia, unilateral

[Term]
id: MONDO:1010266
name: renal hypoplasia, bilateral, non-human animal
def: "Renal hypoplasia, bilateral that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000858 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000858"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019980 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog renal hypoplasia, bilateral

[Term]
id: MONDO:1010267
name: urolithiasis, non-human animal
def: "Urolithiasis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001033"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024647 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog urolithiasis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010268
name: renal dysplasia, non-human animal
def: "Renal dysplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001135 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001135"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019638 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog renal dysplasia

[Term]
id: MONDO:1010269
name: hypospadias, non-human animal
def: "Hypospadias that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001187 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001187"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005345 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hypospadias

[Term]
id: MONDO:1010270
name: alkaptonuria, non-human animal
def: "Alkaptonuria that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001243 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001243"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008753 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog alkaptonuria

[Term]
id: MONDO:1010272
name: renal agenesis, non-human animal
def: "Renal agenesis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002007"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018470 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog renal agenesis

[Term]
id: MONDO:1010275
name: cryptorchidism, non-human animal
def: "Cryptorchidism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000243"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009047 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog cryptorchidism

[Term]
id: MONDO:1010276
name: hypogonadism, non-human animal
def: "Hypogonadism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000522 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000522"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002146 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hypogonadism

[Term]
id: MONDO:1010277
name: orchitis, non-human animal
def: "Orchitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000745 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000745"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006882 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog orchitis

[Term]
id: MONDO:1010278
name: persistent Mullerian duct syndrome, non-human animal
def: "Persistent Mullerian duct syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000791 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000791"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009857 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog persistent Mullerian duct syndrome

[Term]
id: MONDO:1010279
name: hymen, imperforate, non-human animal
def: "Hymen, imperforate that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001107 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001107"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009375 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hymen, imperforate

[Term]
id: MONDO:1010280
name: priapism, non-human animal
def: "Priapism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001166 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001166"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004745 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog priapism

[Term]
id: MONDO:1010281
name: testicular regression syndrome, non-human animal
def: "Testicular regression syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001535 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001535"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:8000015 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog 46,XY sex reversal 11

[Term]
id: MONDO:1010282
name: azoospermia, non-human animal
def: "Azoospermia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002500 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002500"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0100459 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog azoospermia

[Term]
id: MONDO:1010284
name: allergic rhinitis, non-human animal
def: "Allergic rhinitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000027 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000027"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011786 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog allergic rhinitis

[Term]
id: MONDO:1010285
name: atrophic rhinitis, non-human animal
def: "Atrophic rhinitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000091 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000091"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005659 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog atrophic rhinitis

[Term]
id: MONDO:1010286
name: pneumothorax, non-human animal
def: "Pneumothorax that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000804 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000804"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002076 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog pneumothorax

[Term]
id: MONDO:1010287
name: pulmonary hypertension, non-human animal
def: "Pulmonary hypertension that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000841 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000841"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005149 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog pulmonary hypertension

[Term]
id: MONDO:1010289
name: choanal atresia, non-human animal
def: "Choanal atresia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001764 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001764"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0012155 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog choanal atresia

[Term]
id: MONDO:1010290
name: pulmonary agenesis, non-human animal
def: "Pulmonary agenesis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002520 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002520"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020110 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog pulmonary agenesis

[Term]
id: MONDO:1010291
name: achondroplasia, non-human animal
def: "Achondroplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000004 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000004"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007037 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Achondroplasia

[Term]
id: MONDO:1010292
name: ankylosing spondylitis, non-human animal
def: "Ankylosing spondylitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000046 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000046"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005306 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog ankylosing spondylitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010293
name: anodontia, non-human animal
def: "Anodontia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000048 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000048"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008797 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog anodontia

[Term]
id: MONDO:1010294
name: rheumatoid arthritis, non-human animal
def: "Rheumatoid arthritis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000067 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000067"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008383 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog rheumatoid arthritis

[Term]
id: MONDO:1010295
name: osteoporosis, non-human animal
def: "Osteoporosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000105 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000105"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005298 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog osteoporosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010296
name: Marfan syndrome, non-human animal
def: "Marfan syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000628 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000628"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007947 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Marfan syndrome

[Term]
id: MONDO:1010297
name: osteoarthritis, non-human animal
def: "Osteoarthritis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000747"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005178 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog osteoarthritis

[Term]
id: MONDO:1010298
name: osteochondritis dissecans, non-human animal
def: "Osteochondritis dissecans that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000748 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000748"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017178 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog osteochondritis dissecans

[Term]
id: MONDO:1010299
name: osteochondrosis, non-human animal
def: "Osteochondrosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000750"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018381 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog osteochondrosis

[Term]
id: MONDO:1010300
name: osteopetrosis, non-human animal
def: "Osteopetrosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000755 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000755"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017198 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog osteopetrosis

[Term]
id: MONDO:1010302
name: scoliosis, non-human animal
def: "Scoliosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000891 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000891"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005392 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog scoliosis

[Term]
id: MONDO:1010303
name: spinal stenosis, non-human animal
def: "Spinal stenosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000947 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000947"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005965 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog spinal stenosis

[Term]
id: MONDO:1010304
name: synovial chondromatosis, non-human animal
def: "Synovial chondromatosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001174 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001174"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006438 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog synovial chondromatosis

[Term]
id: MONDO:1010305
name: craniosynostosis, non-human animal
def: "Craniosynostosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001224 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001224"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015469 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog craniosynostosis

[Term]
id: MONDO:1010306
name: osteochondrodysplasia, non-human animal
def: "Osteochondrodysplasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001315 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001315"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005516 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog osteochondrodysplasia

[Term]
id: MONDO:1010310
name: schmid metaphyseal chondrodysplasia dwarfism, non-human animal
def: "Schmid metaphyseal chondrodysplasia dwarfism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001718 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001718"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001718"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007983 {source="OMIA:001718"} ! cross-species analog Schmid metaphyseal chondrodysplasia

[Term]
id: MONDO:1010312
name: osteopetrosis with gingival hamartomas, non-human animal
def: "Osteopetrosis with gingival hamartomas that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001887 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001887"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:001887"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0012676 {source="OMIA:001887"} ! cross-species analog autosomal recessive osteopetrosis 4
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010313
name: spondylocostal dysostosis, autosomal recessive, non-human animal
def: "Spondylocostal dysostosis, autosomal recessive that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001944 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001944"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010180 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog autosomal recessive spondylocostal dysostosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010314
name: Van den Ende-Gupta syndrome, non-human animal
def: "Van den Ende-Gupta syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002016 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002016"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002016"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010959 {source="OMIA:002016"} ! cross-species analog van den Ende-Gupta syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010315
name: periodontitis, non-human animal
def: "Periodontitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002056 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002056"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005076 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog periodontitis

[Term]
id: MONDO:1010316
name: hypophosphatasia, non-human animal
def: "Hypophosphatasia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002162 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002162"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018570 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog hypophosphatasia

[Term]
id: MONDO:1010318
name: GAPO syndrome, non-human animal
def: "GAPO syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002544 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002544"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009263 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog GAPO syndrome

[Term]
id: MONDO:1010319
name: coloboma, non-human animal
def: "Coloboma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000219"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001476 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog coloboma

[Term]
id: MONDO:1010320
name: corneal dystrophy, non-human animal
def: "Corneal dystrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000230 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000230"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018102 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog corneal dystrophy

[Term]
id: MONDO:1010321
name: retinal detachment, non-human animal
def: "Retinal detachment that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000275 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000275"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008375 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog retinal detachment

[Term]
id: MONDO:1010322
name: ectropion, non-human animal
def: "Ectropion that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000325 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000325"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002043 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog ectropion

[Term]
id: MONDO:1010323
name: entropion, non-human animal
def: "Entropion that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000337"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001519 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog entropion

[Term]
id: MONDO:1010324
name: microphthalmia, non-human animal
def: "Microphthalmia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000649"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021129 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog microphthalmia

[Term]
id: MONDO:1010325
name: congenital nystagmus, non-human animal
def: "Congenital nystagmus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000731 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000731"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005712 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog congenital nystagmus

[Term]
id: MONDO:1010326
name: retinal degeneration, non-human animal
def: "Retinal degeneration that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000866 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000866"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004580 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog retinal degeneration

[Term]
id: MONDO:1010327
name: strabismus, non-human animal
def: "Strabismus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000949 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000949"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0003432 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog strabismus

[Term]
id: MONDO:1010328
name: retinoschisis, non-human animal
def: "Retinoschisis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001185 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001185"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004579 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog retinoschisis

[Term]
id: MONDO:1010329
name: Leber congenital amaurosis, non-human animal
def: "Leber congenital amaurosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001222 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001222"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018998 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Leber congenital amaurosis

[Term]
id: MONDO:1010330
name: keratitis, non-human animal
def: "Keratitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001287 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001287"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0003085 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog keratitis

[Term]
id: MONDO:1010334
name: retinitis pigmentosa, non-human animal
def: "Retinitis pigmentosa that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001413 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001413"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019200 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog retinitis pigmentosa

[Term]
id: MONDO:1010337
name: myopia, non-human animal
def: "Myopia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001487 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001487"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001384 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog myopia

[Term]
id: MONDO:1010343
name: diabetic cataract, non-human animal
def: "Diabetic cataract that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001865 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001865"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001687 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog diabetic cataract

[Term]
id: MONDO:1010344
name: Peters anomaly, non-human animal
def: "Peters anomaly that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001914 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001914"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011414 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Peters anomaly

[Term]
id: MONDO:1010350
name: macular corneal dystrophy, non-human animal
def: "Macular corneal dystrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002071 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002071"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002071"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009020 {source="OMIA:002071"} ! cross-species analog macular corneal dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010351
name: age-related macular degeneration, non-human animal
def: "Age-related macular degeneration that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002142 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002142"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005150 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog age-related macular degeneration
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010352
name: microphthalmia, isolated, with coloboma, non-human animal
def: "Microphthalmia, isolated, with coloboma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002151 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002151"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002151"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000170 {source="OMIA:002151"} ! cross-species analog microphthalmia, isolated, with coloboma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010358
name: Leber hereditary optic neuropathy, non-human animal
def: "Leber hereditary optic neuropathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002557 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002557"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010788 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog Leber hereditary optic neuropathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010359
name: night blindness, non-human animal
def: "Night blindness that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002580 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002580"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004588 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog night blindness
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1010360
name: dacryocystitis, non-human animal
def: "Dacryocystitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002610 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002610"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004926 {source="https://orcid.org/0000-0002-5002-8648"} ! cross-species analog dacryocystitis

[Term]
id: MONDO:1010361
name: hyperphagia leading to hepatic steatosis, non-human animal
def: "Hyperphagia leading to hepatic steatosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002217 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002217"} ! non-human animal disease
intersection_of: MONDO:0005583 {source="OMIA:002217"} ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019115 {source="OMIA:002217"} ! cross-species analog obesity due to melanocortin 4 receptor deficiency

[Term]
id: MONDO:1010407
name: epilepsy, golden hamster
def: "Epilepsy that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000344-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010408
name: epilepsy, Mongolian gerbil
def: "Epilepsy that occurs in Mongolian gerbil." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-10047 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10047 ! Meriones unguiculatus
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:10047 {source="OMIA:000344-10047", source="https://orcid.org/0000-0002-5002-8648"} ! Meriones unguiculatus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010409
name: epilepsy, chicken
def: "Epilepsy that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000344-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010410
name: epilepsy, white-tufted-ear marmoset
def: "Epilepsy that occurs in white-tufted-ear marmoset." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-9483 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9483 ! Callithrix jacchus
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:9483 {source="OMIA:000344-9483", source="https://orcid.org/0000-0002-5002-8648"} ! Callithrix jacchus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010411
name: epilepsy, dog
def: "Epilepsy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000344-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010412
name: epilepsy, domestic cat
def: "Epilepsy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000344-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010413
name: epilepsy, horse
def: "Epilepsy that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000344-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010414
name: epilepsy, cattle
def: "Epilepsy that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000344-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010415
name: epilepsy, rabbit
def: "Epilepsy that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000344-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010001 {source="OMIA:000344", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0005027 ! cross-species analog epilepsy
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000344-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010416
name: myoclonus, horse
def: "Myoclonus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000689-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010002 {source="OMIA:000689", source="https://orcid.org/0000-0002-5002-8648"} ! myoclonus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0007868 ! cross-species analog hyperekplexia 1
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000689-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010417
name: myoclonus, cattle
def: "Myoclonus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000689-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010002 {source="OMIA:000689", source="https://orcid.org/0000-0002-5002-8648"} ! myoclonus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0007868 ! cross-species analog hyperekplexia 1
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000689-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010418
name: narcolepsy, dog
def: "Narcolepsy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000703-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010003 {source="OMIA:000703", source="https://orcid.org/0000-0002-5002-8648"} ! narcolepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0021107 ! cross-species analog narcolepsy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000703-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010419
name: narcolepsy, domestic cat
def: "Narcolepsy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000703-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010003 {source="OMIA:000703", source="https://orcid.org/0000-0002-5002-8648"} ! narcolepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0021107 ! cross-species analog narcolepsy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000703-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010420
name: narcolepsy, horse
def: "Narcolepsy that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000703-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010003 {source="OMIA:000703", source="https://orcid.org/0000-0002-5002-8648"} ! narcolepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0021107 ! cross-species analog narcolepsy
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000703-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010421
name: narcolepsy, sheep
def: "Narcolepsy that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000703-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010003 {source="OMIA:000703", source="https://orcid.org/0000-0002-5002-8648"} ! narcolepsy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0021107 ! cross-species analog narcolepsy
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000703-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010422
name: paroxysmal dyskinesia, dog
def: "Paroxysmal dyskinesia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001543-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010004 {source="OMIA:001543", source="https://orcid.org/0000-0002-5002-8648"} ! paroxysmal dyskinesia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0015427 ! cross-species analog paroxysmal dyskinesia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001543-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010423
name: paroxysmal dyskinesia, domestic cat
def: "Paroxysmal dyskinesia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001543-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010004 {source="OMIA:001543", source="https://orcid.org/0000-0002-5002-8648"} ! paroxysmal dyskinesia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0015427 ! cross-species analog paroxysmal dyskinesia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001543-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010424
name: autism spectrum disorder, zebra finch
def: "Autism spectrum disorder that occurs in zebra finch." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001815-59729 {source="MONDO:equivalentTo"}
is_a: MONDO:1010005 {source="OMIA:001815", source="https://orcid.org/0000-0002-5002-8648"} ! autism spectrum disorder, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:59729 ! Taeniopygia guttata
intersection_of: MONDO:0700097 MONDO:0005258 ! cross-species analog autism spectrum disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:59729 {source="OMIA:001815-59729", source="https://orcid.org/0000-0002-5002-8648"} ! Taeniopygia guttata
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010425
name: Phelan-McDermid syndrome, crab-eating macaque
def: "Phelan-McDermid syndrome that occurs in crab-eating macaque." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002402-9541 {source="MONDO:equivalentTo"}
is_a: MONDO:1010006 {source="OMIA:002402", source="https://orcid.org/0000-0002-5002-8648"} ! Phelan-McDermid syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9541 ! Macaca fascicularis
intersection_of: MONDO:0700097 MONDO:0011652 ! cross-species analog Phelan-McDermid syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9541 {source="OMIA:002402-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca fascicularis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010426
name: subvalvular aortic stenosis, dog
def: "Subvalvular aortic stenosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000052-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010007 {source="OMIA:000052", source="https://orcid.org/0000-0002-5002-8648"} ! subvalvular aortic stenosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0006987 ! cross-species analog subvalvular aortic stenosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000052-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010427
name: atherosclerosis, golden hamster
def: "Atherosclerosis that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000080-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1010008 {source="OMIA:000080", source="https://orcid.org/0000-0002-5002-8648"} ! atherosclerosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0005311 ! cross-species analog atherosclerosis
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000080-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010428
name: atherosclerosis, rock pigeon
def: "Atherosclerosis that occurs in rock pigeon." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000080-8932 {source="MONDO:equivalentTo"}
is_a: MONDO:1010008 {source="OMIA:000080", source="https://orcid.org/0000-0002-5002-8648"} ! atherosclerosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8932 ! Columba livia
intersection_of: MONDO:0700097 MONDO:0005311 ! cross-species analog atherosclerosis
relationship: in_taxon NCBITaxon:8932 {source="OMIA:000080-8932", source="https://orcid.org/0000-0002-5002-8648"} ! Columba livia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010429
name: atherosclerosis, Japanese quail
def: "Atherosclerosis that occurs in Japanese quail." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000080-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1010008 {source="OMIA:000080", source="https://orcid.org/0000-0002-5002-8648"} ! atherosclerosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:93934 ! Coturnix japonica
intersection_of: MONDO:0700097 MONDO:0005311 ! cross-species analog atherosclerosis
relationship: in_taxon NCBITaxon:93934 {source="OMIA:000080-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010430
name: atherosclerosis, dog
def: "Atherosclerosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000080-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010008 {source="OMIA:000080", source="https://orcid.org/0000-0002-5002-8648"} ! atherosclerosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005311 ! cross-species analog atherosclerosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000080-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010431
name: atherosclerosis, domestic cat
def: "Atherosclerosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000080-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010008 {source="OMIA:000080", source="https://orcid.org/0000-0002-5002-8648"} ! atherosclerosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005311 ! cross-species analog atherosclerosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000080-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010432
name: atherosclerosis, pig
def: "Atherosclerosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000080-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010008 {source="OMIA:000080", source="https://orcid.org/0000-0002-5002-8648"} ! atherosclerosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005311 ! cross-species analog atherosclerosis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000080-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010433
name: atrial septal defect, koala
def: "Atrial septal defect that occurs in koala." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000089-38626 {source="MONDO:equivalentTo"}
is_a: MONDO:1010009 {source="OMIA:000089", source="https://orcid.org/0000-0002-5002-8648"} ! atrial septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:38626 ! Phascolarctos cinereus
intersection_of: MONDO:0700097 MONDO:0006664 ! cross-species analog atrial septal defect
relationship: in_taxon NCBITaxon:38626 {source="OMIA:000089-38626", source="https://orcid.org/0000-0002-5002-8648"} ! Phascolarctos cinereus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010434
name: atrial septal defect, dog
def: "Atrial septal defect that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000089-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010009 {source="OMIA:000089", source="https://orcid.org/0000-0002-5002-8648"} ! atrial septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0006664 ! cross-species analog atrial septal defect
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000089-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010435
name: atrial septal defect, domestic cat
def: "Atrial septal defect that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000089-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010009 {source="OMIA:000089", source="https://orcid.org/0000-0002-5002-8648"} ! atrial septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0006664 ! cross-species analog atrial septal defect
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000089-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010436
name: atrial septal defect, cattle
def: "Atrial septal defect that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000089-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010009 {source="OMIA:000089", source="https://orcid.org/0000-0002-5002-8648"} ! atrial septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0006664 ! cross-species analog atrial septal defect
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000089-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010437
name: cardiomyopathy, golden hamster
def: "Cardiomyopathy that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1010010 {source="OMIA:000160", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0004994 ! cross-species analog cardiomyopathy
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000160-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010438
name: cardiomyopathy, salmonids
def: "Cardiomyopathy that occurs in salmonids." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160-8015 {source="MONDO:equivalentTo"}
is_a: MONDO:1010010 {source="OMIA:000160", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8015 ! Salmonidae
intersection_of: MONDO:0700097 MONDO:0004994 ! cross-species analog cardiomyopathy
relationship: in_taxon NCBITaxon:8015 {source="OMIA:000160-8015", source="https://orcid.org/0000-0002-5002-8648"} ! Salmonidae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010439
name: cardiomyopathy, chicken
def: "Cardiomyopathy that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010010 {source="OMIA:000160", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0004994 ! cross-species analog cardiomyopathy
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000160-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010440
name: cardiomyopathy, hedgehogs
def: "Cardiomyopathy that occurs in hedgehogs." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160-9363 {source="MONDO:equivalentTo"}
is_a: MONDO:1010010 {source="OMIA:000160", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9363 ! Erinaceidae
intersection_of: MONDO:0700097 MONDO:0004994 ! cross-species analog cardiomyopathy
relationship: in_taxon NCBITaxon:9363 {source="OMIA:000160-9363", source="https://orcid.org/0000-0002-5002-8648"} ! Erinaceidae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010441
name: cardiomyopathy, dog
def: "Cardiomyopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010010 {source="OMIA:000160", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004994 ! cross-species analog cardiomyopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000160-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010442
name: cardiomyopathy, domestic cat
def: "Cardiomyopathy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010010 {source="OMIA:000160", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004994 ! cross-species analog cardiomyopathy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000160-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010443
name: cardiomyopathy, cattle
def: "Cardiomyopathy that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010010 {source="OMIA:000160", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0004994 ! cross-species analog cardiomyopathy
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000160-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010444
name: cardiomyopathy, goat
def: "Cardiomyopathy that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000160-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010010 {source="OMIA:000160", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0004994 ! cross-species analog cardiomyopathy
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000160-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010445
name: dilated cardiomyopathy, golden hamster
def: "Dilated cardiomyopathy that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1010011 {source="OMIA:000162", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0005021 ! cross-species analog dilated cardiomyopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000162-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010446
name: dilated cardiomyopathy, sea otter
def: "Dilated cardiomyopathy that occurs in sea otter." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162-34882 {source="MONDO:equivalentTo"}
is_a: MONDO:1010011 {source="OMIA:000162", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:34882 ! Enhydra lutris
intersection_of: MONDO:0700097 MONDO:0005021 ! cross-species analog dilated cardiomyopathy
relationship: in_taxon NCBITaxon:34882 {source="OMIA:000162-34882", source="https://orcid.org/0000-0002-5002-8648"} ! Enhydra lutris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010447
name: dilated cardiomyopathy, turkey
def: "Dilated cardiomyopathy that occurs in turkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1010011 {source="OMIA:000162", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9103 ! Meleagris gallopavo
intersection_of: MONDO:0700097 MONDO:0005021 ! cross-species analog dilated cardiomyopathy
relationship: in_taxon NCBITaxon:9103 {source="OMIA:000162-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010448
name: dilated cardiomyopathy, dog
def: "Dilated cardiomyopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010011 {source="OMIA:000162", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005021 ! cross-species analog dilated cardiomyopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000162-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010449
name: dilated cardiomyopathy, domestic cat
def: "Dilated cardiomyopathy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010011 {source="OMIA:000162", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005021 ! cross-species analog dilated cardiomyopathy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000162-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010450
name: dilated cardiomyopathy, pig
def: "Dilated cardiomyopathy that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010011 {source="OMIA:000162", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005021 ! cross-species analog dilated cardiomyopathy
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000162-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010451
name: dilated cardiomyopathy, cattle
def: "Dilated cardiomyopathy that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010011 {source="OMIA:000162", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005021 ! cross-species analog dilated cardiomyopathy
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000162-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010452
name: dilated cardiomyopathy, rabbit
def: "Dilated cardiomyopathy that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000162-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010011 {source="OMIA:000162", source="https://orcid.org/0000-0002-5002-8648"} ! dilated cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0005021 ! cross-species analog dilated cardiomyopathy
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000162-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010453
name: conotruncal heart malformations, dog
def: "Conotruncal heart malformations that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000224-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010012 {source="OMIA:000224", source="https://orcid.org/0000-0002-5002-8648"} ! conotruncal heart malformations, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0016581 ! cross-species analog conotruncal heart malformations
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000224-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010454
name: cor triatriatum dexter, dog
def: "Cor triatriatum dexter that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000227-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010013 {source="OMIA:000227", source="https://orcid.org/0000-0002-5002-8648"} ! cor triatriatum dexter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0020429 ! cross-species analog cor triatriatum dexter
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000227-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010455
name: essential hypertension, dog
def: "Essential hypertension that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000510-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010014 {source="OMIA:000510", source="https://orcid.org/0000-0002-5002-8648"} ! essential hypertension, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001134 ! cross-species analog essential hypertension
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000510-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010456
name: hypertrophic cardiomyopathy, woolly monkeys
def: "Hypertrophic cardiomyopathy that occurs in woolly monkeys." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000515-9518 {source="MONDO:equivalentTo"}
is_a: MONDO:1010015 {source="OMIA:000515", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9518 ! Lagothrix
intersection_of: MONDO:0700097 MONDO:0005045 ! cross-species analog hypertrophic cardiomyopathy
relationship: in_taxon NCBITaxon:9518 {source="OMIA:000515-9518", source="https://orcid.org/0000-0002-5002-8648"} ! Lagothrix
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010457
name: hypertrophic cardiomyopathy, Rhesus monkey
def: "Hypertrophic cardiomyopathy that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000515-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1010015 {source="OMIA:000515", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0005045 ! cross-species analog hypertrophic cardiomyopathy
relationship: in_taxon NCBITaxon:9544 {source="OMIA:000515-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010458
name: hypertrophic cardiomyopathy, dog
def: "Hypertrophic cardiomyopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000515-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010015 {source="OMIA:000515", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005045 ! cross-species analog hypertrophic cardiomyopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000515-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010459
name: hypertrophic cardiomyopathy, domestic cat
def: "Hypertrophic cardiomyopathy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000515-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010015 {source="OMIA:000515", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005045 ! cross-species analog hypertrophic cardiomyopathy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000515-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010460
name: hypertrophic cardiomyopathy, pig
def: "Hypertrophic cardiomyopathy that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000515-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010015 {source="OMIA:000515", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005045 ! cross-species analog hypertrophic cardiomyopathy
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000515-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010461
name: hypertrophic cardiomyopathy, Arabian camel
def: "Hypertrophic cardiomyopathy that occurs in Arabian camel." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000515-9838 {source="MONDO:equivalentTo"}
is_a: MONDO:1010015 {source="OMIA:000515", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9838 ! Camelus dromedarius
intersection_of: MONDO:0700097 MONDO:0005045 ! cross-species analog hypertrophic cardiomyopathy
relationship: in_taxon NCBITaxon:9838 {source="OMIA:000515-9838", source="https://orcid.org/0000-0002-5002-8648"} ! Camelus dromedarius
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010462
name: hypertrophic cardiomyopathy, cattle
def: "Hypertrophic cardiomyopathy that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000515-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010015 {source="OMIA:000515", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005045 ! cross-species analog hypertrophic cardiomyopathy
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000515-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010463
name: mitral valve stenosis, domestic cat
def: "Mitral valve stenosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000655-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010016 {source="OMIA:000655", source="https://orcid.org/0000-0002-5002-8648"} ! mitral valve stenosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005852 ! cross-species analog mitral valve stenosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000655-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010464
name: patent ductus arteriosus, chicken
def: "Patent ductus arteriosus that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000779-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010017 {source="OMIA:000779", source="https://orcid.org/0000-0002-5002-8648"} ! patent ductus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0011827 ! cross-species analog patent ductus arteriosus
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000779-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010465
name: patent ductus arteriosus, dog
def: "Patent ductus arteriosus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000779-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010017 {source="OMIA:000779", source="https://orcid.org/0000-0002-5002-8648"} ! patent ductus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0011827 ! cross-species analog patent ductus arteriosus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000779-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010466
name: patent ductus arteriosus, domestic cat
def: "Patent ductus arteriosus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000779-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010017 {source="OMIA:000779", source="https://orcid.org/0000-0002-5002-8648"} ! patent ductus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0011827 ! cross-species analog patent ductus arteriosus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000779-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010467
name: patent ductus arteriosus, horse
def: "Patent ductus arteriosus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000779-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010017 {source="OMIA:000779", source="https://orcid.org/0000-0002-5002-8648"} ! patent ductus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0011827 ! cross-species analog patent ductus arteriosus
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000779-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010468
name: patent ductus arteriosus, cattle
def: "Patent ductus arteriosus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000779-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010017 {source="OMIA:000779", source="https://orcid.org/0000-0002-5002-8648"} ! patent ductus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0011827 ! cross-species analog patent ductus arteriosus
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000779-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010469
name: patent ductus arteriosus, sheep
def: "Patent ductus arteriosus that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000779-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010017 {source="OMIA:000779", source="https://orcid.org/0000-0002-5002-8648"} ! patent ductus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0011827 ! cross-species analog patent ductus arteriosus
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000779-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010470
name: persistent truncus arteriosus, alpaca
def: "Persistent truncus arteriosus that occurs in alpaca." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000795-30538 {source="MONDO:equivalentTo"}
is_a: MONDO:1010018 {source="OMIA:000795", source="https://orcid.org/0000-0002-5002-8648"} ! persistent truncus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:30538 ! Vicugna pacos
intersection_of: MONDO:0700097 MONDO:0018072 ! cross-species analog persistent truncus arteriosus
relationship: in_taxon NCBITaxon:30538 {source="OMIA:000795-30538", source="https://orcid.org/0000-0002-5002-8648"} ! Vicugna pacos
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010471
name: persistent truncus arteriosus, dog
def: "Persistent truncus arteriosus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000795-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010018 {source="OMIA:000795", source="https://orcid.org/0000-0002-5002-8648"} ! persistent truncus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018072 ! cross-species analog persistent truncus arteriosus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000795-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010472
name: persistent truncus arteriosus, domestic cat
def: "Persistent truncus arteriosus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000795-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010018 {source="OMIA:000795", source="https://orcid.org/0000-0002-5002-8648"} ! persistent truncus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018072 ! cross-species analog persistent truncus arteriosus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000795-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010473
name: persistent truncus arteriosus, horse
def: "Persistent truncus arteriosus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000795-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010018 {source="OMIA:000795", source="https://orcid.org/0000-0002-5002-8648"} ! persistent truncus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0018072 ! cross-species analog persistent truncus arteriosus
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000795-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010474
name: persistent truncus arteriosus, pig
def: "Persistent truncus arteriosus that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000795-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010018 {source="OMIA:000795", source="https://orcid.org/0000-0002-5002-8648"} ! persistent truncus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0018072 ! cross-species analog persistent truncus arteriosus
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000795-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010475
name: persistent truncus arteriosus, cattle
def: "Persistent truncus arteriosus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000795-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010018 {source="OMIA:000795", source="https://orcid.org/0000-0002-5002-8648"} ! persistent truncus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0018072 ! cross-species analog persistent truncus arteriosus
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000795-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010476
name: persistent truncus arteriosus, sheep
def: "Persistent truncus arteriosus that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000795-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010018 {source="OMIA:000795", source="https://orcid.org/0000-0002-5002-8648"} ! persistent truncus arteriosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0018072 ! cross-species analog persistent truncus arteriosus
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000795-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010477
name: arrhythmogenic right ventricular cardiomyopathy, chimpanzee
def: "Arrhythmogenic right ventricular cardiomyopathy that occurs in chimpanzee." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000878-9598 {source="MONDO:equivalentTo"}
is_a: MONDO:1010019 {source="OMIA:000878", source="https://orcid.org/0000-0002-5002-8648"} ! arrhythmogenic right ventricular cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9598 ! Pan troglodytes
intersection_of: MONDO:0700097 MONDO:0016587 ! cross-species analog arrhythmogenic right ventricular cardiomyopathy
relationship: in_taxon NCBITaxon:9598 {source="OMIA:000878-9598", source="https://orcid.org/0000-0002-5002-8648"} ! Pan troglodytes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010478
name: arrhythmogenic right ventricular cardiomyopathy, dog
def: "Arrhythmogenic right ventricular cardiomyopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000878-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010019 {source="OMIA:000878", source="https://orcid.org/0000-0002-5002-8648"} ! arrhythmogenic right ventricular cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0016587 ! cross-species analog arrhythmogenic right ventricular cardiomyopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000878-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010479
name: arrhythmogenic right ventricular cardiomyopathy, domestic cat
def: "Arrhythmogenic right ventricular cardiomyopathy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000878-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010019 {source="OMIA:000878", source="https://orcid.org/0000-0002-5002-8648"} ! arrhythmogenic right ventricular cardiomyopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0016587 ! cross-species analog arrhythmogenic right ventricular cardiomyopathy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000878-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010480
name: supravalvular aortic stenosis, domestic cat
def: "Supravalvular aortic stenosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000960-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010020 {source="OMIA:000960", source="https://orcid.org/0000-0002-5002-8648"} ! supravalvular aortic stenosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008504 ! cross-species analog supravalvular aortic stenosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000960-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010481
name: tetralogy of fallot, snow leopard
def: "Tetralogy of fallot that occurs in snow leopard." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000994-29064 {source="MONDO:equivalentTo"}
is_a: MONDO:1010021 {source="OMIA:000994", source="https://orcid.org/0000-0002-5002-8648"} ! tetralogy of fallot, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:29064 ! Panthera uncia
intersection_of: MONDO:0700097 MONDO:0008542 ! cross-species analog tetralogy of fallot
relationship: in_taxon NCBITaxon:29064 {source="OMIA:000994-29064", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera uncia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010482
name: tetralogy of fallot, dog
def: "Tetralogy of fallot that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000994-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010021 {source="OMIA:000994", source="https://orcid.org/0000-0002-5002-8648"} ! tetralogy of fallot, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008542 ! cross-species analog tetralogy of fallot
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000994-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010483
name: tetralogy of fallot, domestic cat
def: "Tetralogy of fallot that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000994-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010021 {source="OMIA:000994", source="https://orcid.org/0000-0002-5002-8648"} ! tetralogy of fallot, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008542 ! cross-species analog tetralogy of fallot
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000994-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010484
name: tetralogy of fallot, horse
def: "Tetralogy of fallot that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000994-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010021 {source="OMIA:000994", source="https://orcid.org/0000-0002-5002-8648"} ! tetralogy of fallot, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0008542 ! cross-species analog tetralogy of fallot
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000994-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010485
name: tetralogy of fallot, cattle
def: "Tetralogy of fallot that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000994-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010021 {source="OMIA:000994", source="https://orcid.org/0000-0002-5002-8648"} ! tetralogy of fallot, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008542 ! cross-species analog tetralogy of fallot
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000994-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010486
name: ventricular septal defect, alpaca
def: "Ventricular septal defect that occurs in alpaca." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-30538 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:30538 ! Vicugna pacos
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:30538 {source="OMIA:001041-30538", source="https://orcid.org/0000-0002-5002-8648"} ! Vicugna pacos
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010487
name: ventricular septal defect, chicken
def: "Ventricular septal defect that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001041-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010488
name: ventricular septal defect, turkey
def: "Ventricular septal defect that occurs in turkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9103 ! Meleagris gallopavo
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9103 {source="OMIA:001041-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010489
name: ventricular septal defect, dog
def: "Ventricular septal defect that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001041-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010490
name: ventricular septal defect, domestic cat
def: "Ventricular septal defect that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001041-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010491
name: ventricular septal defect, horse
def: "Ventricular septal defect that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001041-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010492
name: ventricular septal defect, pig
def: "Ventricular septal defect that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001041-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010493
name: ventricular septal defect, cattle
def: "Ventricular septal defect that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001041-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010494
name: ventricular septal defect, sheep
def: "Ventricular septal defect that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001041-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010495
name: ventricular septal defect, rabbit
def: "Ventricular septal defect that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001041-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010022 {source="OMIA:001041", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular septal defect, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0002070 ! cross-species analog ventricular septal defect
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001041-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010496
name: patent ductus venosus, gray wolf
def: "Patent ductus venosus that occurs in gray wolf." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001173-9612 {source="MONDO:equivalentTo"}
is_a: MONDO:1010023 {source="OMIA:001173", source="https://orcid.org/0000-0002-5002-8648"} ! patent ductus venosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9612 ! Canis lupus
intersection_of: MONDO:0700097 MONDO:0011089 ! cross-species analog patent ductus venosus
relationship: in_taxon NCBITaxon:9612 {source="OMIA:001173-9612", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010497
name: patent ductus venosus, dog
def: "Patent ductus venosus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001173-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010023 {source="OMIA:001173", source="https://orcid.org/0000-0002-5002-8648"} ! patent ductus venosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0011089 ! cross-species analog patent ductus venosus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001173-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010498
name: atrial fibrillation, dog
def: "Atrial fibrillation that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001181-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010024 {source="OMIA:001181", source="https://orcid.org/0000-0002-5002-8648"} ! atrial fibrillation, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004981 ! cross-species analog atrial fibrillation
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001181-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010499
name: atrial fibrillation, horse
def: "Atrial fibrillation that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001181-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010024 {source="OMIA:001181", source="https://orcid.org/0000-0002-5002-8648"} ! atrial fibrillation, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0004981 ! cross-species analog atrial fibrillation
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001181-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010500
name: Wolff-Parkinson-White syndrome, cattle
def: "Wolff-Parkinson-White syndrome that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001194-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010025 {source="OMIA:001194", source="https://orcid.org/0000-0002-5002-8648"} ! Wolff-Parkinson-White syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008685 ! cross-species analog Wolff-Parkinson-White syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001194-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010501
name: Budd-chiari syndrome, dog
def: "Budd-Chiari syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001203-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010026 {source="OMIA:001203", source="https://orcid.org/0000-0002-5002-8648"} ! Budd-Chiari syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010947 ! cross-species analog Budd-Chiari syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001203-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010502
name: Budd-chiari syndrome, domestic cat
def: "Budd-Chiari syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001203-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010026 {source="OMIA:001203", source="https://orcid.org/0000-0002-5002-8648"} ! Budd-Chiari syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0010947 ! cross-species analog Budd-Chiari syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001203-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010503
name: endocardial fibroelastosis, dog
def: "Endocardial fibroelastosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001803-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010027 {source="OMIA:001803", source="https://orcid.org/0000-0002-5002-8648"} ! endocardial fibroelastosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009169 ! cross-species analog endocardial fibroelastosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001803-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010504
name: endocardial fibroelastosis, domestic cat
def: "Endocardial fibroelastosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001803-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010027 {source="OMIA:001803", source="https://orcid.org/0000-0002-5002-8648"} ! endocardial fibroelastosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009169 ! cross-species analog endocardial fibroelastosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001803-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010505
name: endocardial fibroelastosis, tiger
def: "Endocardial fibroelastosis that occurs in tiger." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001803-9694 {source="MONDO:equivalentTo"}
is_a: MONDO:1010027 {source="OMIA:001803", source="https://orcid.org/0000-0002-5002-8648"} ! endocardial fibroelastosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9694 ! Panthera tigris
intersection_of: MONDO:0700097 MONDO:0009169 ! cross-species analog endocardial fibroelastosis
relationship: in_taxon NCBITaxon:9694 {source="OMIA:001803-9694", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera tigris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010506
name: endocardial fibroelastosis, horse
def: "Endocardial fibroelastosis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001803-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010027 {source="OMIA:001803", source="https://orcid.org/0000-0002-5002-8648"} ! endocardial fibroelastosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0009169 ! cross-species analog endocardial fibroelastosis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001803-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010507
name: endocardial fibroelastosis, cattle
def: "Endocardial fibroelastosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001803-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010027 {source="OMIA:001803", source="https://orcid.org/0000-0002-5002-8648"} ! endocardial fibroelastosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0009169 ! cross-species analog endocardial fibroelastosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001803-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010508
name: cerebral amyloid angiopathy, dog
def: "Cerebral amyloid angiopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002138-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010028 {source="OMIA:002138", source="https://orcid.org/0000-0002-5002-8648"} ! cerebral amyloid angiopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005620 ! cross-species analog cerebral amyloid angiopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002138-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010509
name: cerebral amyloid angiopathy, domestic cat
def: "Cerebral amyloid angiopathy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002138-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010028 {source="OMIA:002138", source="https://orcid.org/0000-0002-5002-8648"} ! cerebral amyloid angiopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005620 ! cross-species analog cerebral amyloid angiopathy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002138-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010513
name: triploidy, tench
def: "Triploidy that occurs in tench." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001180-27717 {source="MONDO:equivalentTo"}
is_a: MONDO:1010031 {source="OMIA:001180", source="https://orcid.org/0000-0002-5002-8648"} ! triploidy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:27717 ! Tinca tinca
intersection_of: MONDO:0700097 MONDO:0018067 ! cross-species analog triploidy
relationship: in_taxon NCBITaxon:27717 {source="OMIA:001180-27717", source="https://orcid.org/0000-0002-5002-8648"} ! Tinca tinca
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010514
name: triploidy, chicken
def: "Triploidy that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001180-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010031 {source="OMIA:001180", source="https://orcid.org/0000-0002-5002-8648"} ! triploidy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0018067 ! cross-species analog triploidy
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001180-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010515
name: triploidy, blue-and-yellow macaw
def: "Triploidy that occurs in blue-and-yellow macaw." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001180-9226 {source="MONDO:equivalentTo"}
is_a: MONDO:1010031 {source="OMIA:001180", source="https://orcid.org/0000-0002-5002-8648"} ! triploidy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9226 ! Ara ararauna
intersection_of: MONDO:0700097 MONDO:0018067 ! cross-species analog triploidy
relationship: in_taxon NCBITaxon:9226 {source="OMIA:001180-9226", source="https://orcid.org/0000-0002-5002-8648"} ! Ara ararauna
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010516
name: Jacobsen syndrome, cattle
def: "Jacobsen syndrome that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002558-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010032 {source="OMIA:002558", source="https://orcid.org/0000-0002-5002-8648"} ! Jacobsen syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0007838 ! cross-species analog Jacobsen syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002558-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010517
name: holoprosencephaly, horse
def: "Holoprosencephaly that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000478-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010033 {source="OMIA:000478", source="https://orcid.org/0000-0002-5002-8648"} ! holoprosencephaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0016296 ! cross-species analog holoprosencephaly
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000478-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010518
name: holoprosencephaly, pig
def: "Holoprosencephaly that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000478-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010033 {source="OMIA:000478", source="https://orcid.org/0000-0002-5002-8648"} ! holoprosencephaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0016296 ! cross-species analog holoprosencephaly
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000478-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010519
name: holoprosencephaly, sheep
def: "Holoprosencephaly that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000478-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010033 {source="OMIA:000478", source="https://orcid.org/0000-0002-5002-8648"} ! holoprosencephaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0016296 ! cross-species analog holoprosencephaly
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000478-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010520
name: cleft lip with or without cleft palate, dog
def: "Cleft lip with or without cleft palate that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001140-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010034 {source="OMIA:001140", source="https://orcid.org/0000-0002-5002-8648"} ! cleft lip with or without cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:1010034 ! cleft lip with or without cleft palate, non-human animal
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001140-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010521
name: mandibulofacial dysostosis, cattle
def: "Mandibulofacial dysostosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002288-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010035 {source="OMIA:002288", source="https://orcid.org/0000-0002-5002-8648"} ! mandibulofacial dysostosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0015483 ! cross-species analog mandibulofacial dysostosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002288-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010522
name: frontonasal dysplasia, cattle
def: "Frontonasal dysplasia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002307-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010036 {source="OMIA:002307", source="https://orcid.org/0000-0002-5002-8648"} ! frontonasal dysplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0016643 ! cross-species analog frontonasal dysplasia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002307-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010523
name: cleft palate, spectacled flying fox
def: "Cleft palate that occurs in spectacled flying fox." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-328804 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:328804 ! Pteropus conspicillatus
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:328804 {source="OMIA:000197-328804", source="https://orcid.org/0000-0002-5002-8648"} ! Pteropus conspicillatus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010524
name: cleft palate, American mink
def: "Cleft palate that occurs in American mink." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-452646 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:452646 ! Neogale vison
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:452646 {source="OMIA:000197-452646", source="https://orcid.org/0000-0002-5002-8648"} ! Neogale vison
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010525
name: cleft palate, chicken
def: "Cleft palate that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000197-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010526
name: cleft palate, dog
def: "Cleft palate that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000197-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010527
name: cleft palate, domestic cat
def: "Cleft palate that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000197-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010528
name: cleft palate, horse
def: "Cleft palate that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000197-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010529
name: cleft palate, pig
def: "Cleft palate that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000197-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010530
name: cleft palate, cattle
def: "Cleft palate that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000197-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010531
name: cleft palate, sheep
def: "Cleft palate that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000197-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010532
name: cleft palate, rabbit
def: "Cleft palate that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000197-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010037 {source="OMIA:000197", source="https://orcid.org/0000-0002-5002-8648"} ! cleft palate, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0016064 ! cross-species analog cleft palate
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000197-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010533
name: gingival hypertrophy, dog
def: "Gingival hypertrophy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000409-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010038 {source="OMIA:000409", source="https://orcid.org/0000-0002-5002-8648"} ! gingival hypertrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0003397 ! cross-species analog gingival hypertrophy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000409-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010534
name: gingival hypertrophy, red fox
def: "Gingival hypertrophy that occurs in red fox." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000409-9627 {source="MONDO:equivalentTo"}
is_a: MONDO:1010038 {source="OMIA:000409", source="https://orcid.org/0000-0002-5002-8648"} ! gingival hypertrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9627 ! Vulpes vulpes
intersection_of: MONDO:0700097 MONDO:0003397 ! cross-species analog gingival hypertrophy
relationship: in_taxon NCBITaxon:9627 {source="OMIA:000409-9627", source="https://orcid.org/0000-0002-5002-8648"} ! Vulpes vulpes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010535
name: megacolon, domestic cat
def: "Megacolon that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000629-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010039 {source="OMIA:000629", source="https://orcid.org/0000-0002-5002-8648"} ! megacolon, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001273 ! cross-species analog megacolon
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000629-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010536
name: megacolon, horse
def: "Megacolon that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000629-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010039 {source="OMIA:000629", source="https://orcid.org/0000-0002-5002-8648"} ! megacolon, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001273 ! cross-species analog megacolon
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000629-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010537
name: megacolon, pig
def: "Megacolon that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000629-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010039 {source="OMIA:000629", source="https://orcid.org/0000-0002-5002-8648"} ! megacolon, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0001273 ! cross-species analog megacolon
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000629-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010538
name: megacolon, cattle
def: "Megacolon that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000629-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010039 {source="OMIA:000629", source="https://orcid.org/0000-0002-5002-8648"} ! megacolon, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0001273 ! cross-species analog megacolon
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000629-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010539
name: megacolon, rabbit
def: "Megacolon that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000629-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010039 {source="OMIA:000629", source="https://orcid.org/0000-0002-5002-8648"} ! megacolon, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0001273 ! cross-species analog megacolon
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000629-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010540
name: pyloric stenosis, domestic cat
def: "Pyloric stenosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000843-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010040 {source="OMIA:000843", source="https://orcid.org/0000-0002-5002-8648"} ! pyloric stenosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001561 ! cross-species analog pyloric stenosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000843-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010541
name: Meckel diverticulum, horse
def: "Meckel diverticulum that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001217-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010041 {source="OMIA:001217", source="https://orcid.org/0000-0002-5002-8648"} ! Meckel diverticulum, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0007955 ! cross-species analog Meckel diverticulum
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001217-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010542
name: protein-losing enteropathy, dog
def: "Protein-losing enteropathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001325-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010042 {source="OMIA:001325", source="https://orcid.org/0000-0002-5002-8648"} ! protein-losing enteropathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009174 ! cross-species analog protein-losing enteropathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001325-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010543
name: cystic fibrosis, domestic ferret
def: "Cystic fibrosis that occurs in domestic ferret." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001794-9669 {source="MONDO:equivalentTo"}
is_a: MONDO:1010043 {source="OMIA:001794", source="https://orcid.org/0000-0002-5002-8648"} ! cystic fibrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9669 ! Mustela putorius furo
intersection_of: MONDO:0700097 MONDO:0009061 ! cross-species analog cystic fibrosis
relationship: in_taxon NCBITaxon:9669 {source="OMIA:001794-9669", source="https://orcid.org/0000-0002-5002-8648"} ! Mustela putorius furo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010544
name: cystic fibrosis, pig
def: "Cystic fibrosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001794-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010043 {source="OMIA:001794", source="https://orcid.org/0000-0002-5002-8648"} ! cystic fibrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0009061 ! cross-species analog cystic fibrosis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001794-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010545
name: cystic fibrosis, sheep
def: "Cystic fibrosis that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001794-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010043 {source="OMIA:001794", source="https://orcid.org/0000-0002-5002-8648"} ! cystic fibrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0009061 ! cross-species analog cystic fibrosis
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001794-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010546
name: microvillus inclusion disease, pig
def: "Microvillus inclusion disease that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002247-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010044 {source="OMIA:002247", source="https://orcid.org/0000-0002-5002-8648"} ! microvillus inclusion disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0009635 ! cross-species analog microvillus inclusion disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002247-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010547
name: diprosopus, domestic cat
def: "Diprosopus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000290-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010045 {source="OMIA:000290", source="https://orcid.org/0000-0002-5002-8648"} ! diprosopus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0015672 ! cross-species analog diprosopus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000290-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010548
name: diprosopus, cattle
def: "Diprosopus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000290-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010045 {source="OMIA:000290", source="https://orcid.org/0000-0002-5002-8648"} ! diprosopus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0015672 ! cross-species analog diprosopus
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000290-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010549
name: diprosopus, sheep
def: "Diprosopus that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000290-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010045 {source="OMIA:000290", source="https://orcid.org/0000-0002-5002-8648"} ! diprosopus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0015672 ! cross-species analog diprosopus
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000290-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010550
name: patent urachus, dog
def: "Patent urachus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000781-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010046 {source="OMIA:000781", source="https://orcid.org/0000-0002-5002-8648"} ! patent urachus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018551 ! cross-species analog patent urachus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000781-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010551
name: patent urachus, domestic cat
def: "Patent urachus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000781-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010046 {source="OMIA:000781", source="https://orcid.org/0000-0002-5002-8648"} ! patent urachus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018551 ! cross-species analog patent urachus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000781-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010552
name: patent urachus, mountain zebra
def: "Patent urachus that occurs in mountain zebra." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000781-9791 {source="MONDO:equivalentTo"}
is_a: MONDO:1010046 {source="OMIA:000781", source="https://orcid.org/0000-0002-5002-8648"} ! patent urachus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9791 ! Equus zebra
intersection_of: MONDO:0700097 MONDO:0018551 ! cross-species analog patent urachus
relationship: in_taxon NCBITaxon:9791 {source="OMIA:000781-9791", source="https://orcid.org/0000-0002-5002-8648"} ! Equus zebra
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010553
name: patent urachus, white rhinoceros
def: "Patent urachus that occurs in white rhinoceros." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000781-9807 {source="MONDO:equivalentTo"}
is_a: MONDO:1010046 {source="OMIA:000781", source="https://orcid.org/0000-0002-5002-8648"} ! patent urachus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9807 ! Ceratotherium simum
intersection_of: MONDO:0700097 MONDO:0018551 ! cross-species analog patent urachus
relationship: in_taxon NCBITaxon:9807 {source="OMIA:000781-9807", source="https://orcid.org/0000-0002-5002-8648"} ! Ceratotherium simum
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010554
name: patent urachus, sheep
def: "Patent urachus that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000781-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010046 {source="OMIA:000781", source="https://orcid.org/0000-0002-5002-8648"} ! patent urachus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0018551 ! cross-species analog patent urachus
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000781-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010555
name: spina bifida, snow leopard
def: "Spina bifida that occurs in snow leopard." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000933-29064 {source="MONDO:equivalentTo"}
is_a: MONDO:1010047 {source="OMIA:000933", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:29064 ! Panthera uncia
intersection_of: MONDO:0700097 MONDO:0008449 ! cross-species analog spina bifida
relationship: in_taxon NCBITaxon:29064 {source="OMIA:000933-29064", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera uncia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010556
name: spina bifida, dog
def: "Spina bifida that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000933-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010047 {source="OMIA:000933", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008449 ! cross-species analog spina bifida
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000933-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010557
name: spina bifida, domestic cat
def: "Spina bifida that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000933-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010047 {source="OMIA:000933", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008449 ! cross-species analog spina bifida
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000933-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010558
name: spina bifida, cattle
def: "Spina bifida that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000933-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010047 {source="OMIA:000933", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008449 ! cross-species analog spina bifida
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000933-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010559
name: spina bifida, sheep
def: "Spina bifida that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000933-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010047 {source="OMIA:000933", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0008449 ! cross-species analog spina bifida
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000933-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010560
name: spina bifida, rabbit
def: "Spina bifida that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000933-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010047 {source="OMIA:000933", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0008449 ! cross-species analog spina bifida
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000933-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010561
name: spina bifida occulta, dog
def: "Spina bifida occulta that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000934-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010048 {source="OMIA:000934", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida occulta, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0000859 ! cross-species analog spina bifida occulta
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000934-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010562
name: acromegaly, dog
def: "Acromegaly that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000008-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010049 {source="OMIA:000008", source="https://orcid.org/0000-0002-5002-8648"} ! acromegaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019933 ! cross-species analog acromegaly
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000008-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010563
name: acromegaly, domestic cat
def: "Acromegaly that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000008-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010049 {source="OMIA:000008", source="https://orcid.org/0000-0002-5002-8648"} ! acromegaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019933 ! cross-species analog acromegaly
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000008-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010564
name: congenital adrenal hyperplasia, rabbit
def: "Congenital adrenal hyperplasia that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000017-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010050 {source="OMIA:000017", source="https://orcid.org/0000-0002-5002-8648"} ! congenital adrenal hyperplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0018479 ! cross-species analog congenital adrenal hyperplasia
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000017-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010565
name: diabetes insipidus, chicken
def: "Diabetes insipidus that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000278-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010051 {source="OMIA:000278", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes insipidus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0004782 ! cross-species analog diabetes insipidus
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000278-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010566
name: diabetes insipidus, Japanese quail
def: "Diabetes insipidus that occurs in Japanese quail." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000278-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1010051 {source="OMIA:000278", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes insipidus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:93934 ! Coturnix japonica
intersection_of: MONDO:0700097 MONDO:0004782 ! cross-species analog diabetes insipidus
relationship: in_taxon NCBITaxon:93934 {source="OMIA:000278-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010567
name: diabetes insipidus, dog
def: "Diabetes insipidus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000278-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010051 {source="OMIA:000278", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes insipidus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004782 ! cross-species analog diabetes insipidus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000278-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010568
name: diabetes insipidus, domestic cat
def: "Diabetes insipidus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000278-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010051 {source="OMIA:000278", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes insipidus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004782 ! cross-species analog diabetes insipidus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000278-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010569
name: diabetes insipidus, horse
def: "Diabetes insipidus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000278-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010051 {source="OMIA:000278", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes insipidus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0004782 ! cross-species analog diabetes insipidus
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000278-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010570
name: diabetes insipidus, pig
def: "Diabetes insipidus that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000278-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010051 {source="OMIA:000278", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes insipidus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0004782 ! cross-species analog diabetes insipidus
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000278-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010571
name: diabetes mellitus, domestic guinea pig
def: "Diabetes mellitus that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000279-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010572
name: diabetes mellitus, long-tailed chinchilla
def: "Diabetes mellitus that occurs in long-tailed chinchilla." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-34839 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:34839 ! Chinchilla lanigera
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:34839 {source="OMIA:000279-34839", source="https://orcid.org/0000-0002-5002-8648"} ! Chinchilla lanigera
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010573
name: diabetes mellitus, koala
def: "Diabetes mellitus that occurs in koala." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-38626 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:38626 ! Phascolarctos cinereus
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:38626 {source="OMIA:000279-38626", source="https://orcid.org/0000-0002-5002-8648"} ! Phascolarctos cinereus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010574
name: diabetes mellitus, dog
def: "Diabetes mellitus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000279-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010575
name: diabetes mellitus, domestic cat
def: "Diabetes mellitus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000279-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010576
name: diabetes mellitus, horse
def: "Diabetes mellitus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000279-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010577
name: diabetes mellitus, pig
def: "Diabetes mellitus that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000279-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010578
name: diabetes mellitus, cattle
def: "Diabetes mellitus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000279-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010579
name: diabetes mellitus, rabbit
def: "Diabetes mellitus that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000279-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010052 {source="OMIA:000279", source="https://orcid.org/0000-0002-5002-8648"} ! diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0005015 ! cross-species analog diabetes mellitus
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000279-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010580
name: familial goiter, golden hamster
def: "Familial goiter that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000424-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010581
name: familial goiter, bongo
def: "Familial goiter that occurs in bongo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-69297 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:69297 ! Tragelaphus eurycerus
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: in_taxon NCBITaxon:69297 {source="OMIA:000424-69297", source="https://orcid.org/0000-0002-5002-8648"} ! Tragelaphus eurycerus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010582
name: familial goiter, water buffalo
def: "Familial goiter that occurs in water buffalo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:89462 ! Bubalus bubalis
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: in_taxon NCBITaxon:89462 {source="OMIA:000424-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010583
name: familial goiter, chicken
def: "Familial goiter that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000424-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010584
name: familial goiter, dog
def: "Familial goiter that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000424-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010585
name: familial goiter, American black bear
def: "Familial goiter that occurs in American black bear." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-9643 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9643 ! Ursus americanus
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: in_taxon NCBITaxon:9643 {source="OMIA:000424-9643", source="https://orcid.org/0000-0002-5002-8648"} ! Ursus americanus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010586
name: familial goiter, domestic cat
def: "Familial goiter that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000424-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010587
name: familial goiter, pig
def: "Familial goiter that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000424-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010588
name: familial goiter, cattle
def: "Familial goiter that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000424-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010589
name: familial goiter, goat
def: "Familial goiter that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000424-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010590
name: familial goiter, sheep
def: "Familial goiter that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000424-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010053 {source="OMIA:000424", source="https://orcid.org/0000-0002-5002-8648"} ! familial goiter, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0010135 ! cross-species analog thyroid dyshormonogenesis 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000424-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010591
name: hyperparathyroidism, dog
def: "Hyperparathyroidism that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000508-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010054 {source="OMIA:000508", source="https://orcid.org/0000-0002-5002-8648"} ! hyperparathyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001741 ! cross-species analog hyperparathyroidism
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000508-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010592
name: hyperparathyroidism, domestic cat
def: "Hyperparathyroidism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000508-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010054 {source="OMIA:000508", source="https://orcid.org/0000-0002-5002-8648"} ! hyperparathyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001741 ! cross-species analog hyperparathyroidism
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000508-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010593
name: hyperparathyroidism, horse
def: "Hyperparathyroidism that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000508-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010054 {source="OMIA:000508", source="https://orcid.org/0000-0002-5002-8648"} ! hyperparathyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001741 ! cross-species analog hyperparathyroidism
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000508-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010594
name: hyperthyroidism, domestic guinea pig
def: "Hyperthyroidism that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000511-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1010055 {source="OMIA:000511", source="https://orcid.org/0000-0002-5002-8648"} ! hyperthyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0004425 ! cross-species analog hyperthyroidism
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000511-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010595
name: hyperthyroidism, domestic cat
def: "Hyperthyroidism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000511-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010055 {source="OMIA:000511", source="https://orcid.org/0000-0002-5002-8648"} ! hyperthyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004425 ! cross-species analog hyperthyroidism
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000511-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010596
name: hyperthyroidism, horse
def: "Hyperthyroidism that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000511-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010055 {source="OMIA:000511", source="https://orcid.org/0000-0002-5002-8648"} ! hyperthyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0004425 ! cross-species analog hyperthyroidism
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000511-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010597
name: hyperthyroidism, rabbit
def: "Hyperthyroidism that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000511-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010055 {source="OMIA:000511", source="https://orcid.org/0000-0002-5002-8648"} ! hyperthyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0004425 ! cross-species analog hyperthyroidism
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000511-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010598
name: hypoparathyroidism, dog
def: "Hypoparathyroidism that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000528-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010056 {source="OMIA:000528", source="https://orcid.org/0000-0002-5002-8648"} ! hypoparathyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001220 ! cross-species analog hypoparathyroidism
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000528-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010599
name: hypoparathyroidism, domestic cat
def: "Hypoparathyroidism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000528-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010056 {source="OMIA:000528", source="https://orcid.org/0000-0002-5002-8648"} ! hypoparathyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001220 ! cross-species analog hypoparathyroidism
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000528-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010600
name: hypoparathyroidism, horse
def: "Hypoparathyroidism that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000528-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010056 {source="OMIA:000528", source="https://orcid.org/0000-0002-5002-8648"} ! hypoparathyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001220 ! cross-species analog hypoparathyroidism
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000528-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010601
name: congenital hypothyroidism, chicken
def: "Congenital hypothyroidism that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000536-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010057 {source="OMIA:000536", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypothyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0018612 ! cross-species analog congenital hypothyroidism
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000536-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010602
name: congenital hypothyroidism, dog
def: "Congenital hypothyroidism that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000536-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010057 {source="OMIA:000536", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypothyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018612 ! cross-species analog congenital hypothyroidism
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000536-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010603
name: congenital hypothyroidism, domestic cat
def: "Congenital hypothyroidism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000536-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010057 {source="OMIA:000536", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypothyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018612 ! cross-species analog congenital hypothyroidism
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000536-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010604
name: congenital hypothyroidism, horse
def: "Congenital hypothyroidism that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000536-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010057 {source="OMIA:000536", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypothyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0018612 ! cross-species analog congenital hypothyroidism
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000536-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010605
name: congenital hypothyroidism, goat
def: "Congenital hypothyroidism that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000536-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010057 {source="OMIA:000536", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypothyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0018612 ! cross-species analog congenital hypothyroidism
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000536-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010606
name: congenital hypothyroidism, sheep
def: "Congenital hypothyroidism that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000536-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010057 {source="OMIA:000536", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypothyroidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0018612 ! cross-species analog congenital hypothyroidism
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000536-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010607
name: exocrine pancreatic insufficiency, dog
def: "Exocrine pancreatic insufficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000765-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010058 {source="OMIA:000765", source="https://orcid.org/0000-0002-5002-8648"} ! exocrine pancreatic insufficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001684 ! cross-species analog exocrine pancreatic insufficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000765-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010608
name: exocrine pancreatic insufficiency, domestic cat
def: "Exocrine pancreatic insufficiency that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000765-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010058 {source="OMIA:000765", source="https://orcid.org/0000-0002-5002-8648"} ! exocrine pancreatic insufficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001684 ! cross-species analog exocrine pancreatic insufficiency
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000765-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010609
name: exocrine pancreatic insufficiency, tiger
def: "Exocrine pancreatic insufficiency that occurs in tiger." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000765-9694 {source="MONDO:equivalentTo"}
is_a: MONDO:1010058 {source="OMIA:000765", source="https://orcid.org/0000-0002-5002-8648"} ! exocrine pancreatic insufficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9694 ! Panthera tigris
intersection_of: MONDO:0700097 MONDO:0001684 ! cross-species analog exocrine pancreatic insufficiency
relationship: in_taxon NCBITaxon:9694 {source="OMIA:000765-9694", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera tigris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010610
name: thyroiditis, domestic guinea pig
def: "Thyroiditis that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001005-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1010059 {source="OMIA:001005", source="https://orcid.org/0000-0002-5002-8648"} ! thyroiditis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0004126 ! cross-species analog thyroiditis
relationship: in_taxon NCBITaxon:10141 {source="OMIA:001005-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010611
name: thyroiditis, dog
def: "Thyroiditis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001005-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010059 {source="OMIA:001005", source="https://orcid.org/0000-0002-5002-8648"} ! thyroiditis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004126 ! cross-species analog thyroiditis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001005-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010612
name: pheochromocytoma, domestic cat
def: "Pheochromocytoma that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001268-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010060 {source="OMIA:001268", source="https://orcid.org/0000-0002-5002-8648"} ! pheochromocytoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008233 ! cross-species analog pheochromocytoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001268-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010613
name: hyperaldosteronism, domestic cat
def: "Hyperaldosteronism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001269-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010061 {source="OMIA:001269", source="https://orcid.org/0000-0002-5002-8648"} ! hyperaldosteronism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0003009 ! cross-species analog hyperaldosteronism
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001269-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010614
name: congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, domestic cat
def: "Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001661-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010062 {source="OMIA:001661", source="https://orcid.org/0000-0002-5002-8648"} ! congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008729 ! cross-species analog congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001661-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010615
name: congenital adrenal hypoplasia, crab-eating macaque
def: "Congenital adrenal hypoplasia that occurs in crab-eating macaque." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002060-9541 {source="MONDO:equivalentTo"}
is_a: MONDO:1010063 {source="OMIA:002060", source="https://orcid.org/0000-0002-5002-8648"} ! congenital adrenal hypoplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9541 ! Macaca fascicularis
intersection_of: MONDO:0700097 MONDO:0010264 ! cross-species analog X-linked adrenal hypoplasia congenita
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9541 {source="OMIA:002060-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca fascicularis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010618
name: microcephaly, sheep
def: "Microcephaly that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000645-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010066 {source="OMIA:000645", source="https://orcid.org/0000-0002-5002-8648"} ! microcephaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0001149 ! cross-species analog microcephaly
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000645-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010619
name: omphalocele, domestic cat
def: "Omphalocele that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000741-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010067 {source="OMIA:000741", source="https://orcid.org/0000-0002-5002-8648"} ! omphalocele, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019015 ! cross-species analog omphalocele
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000741-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010620
name: omphalocele, horse
def: "Omphalocele that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000741-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010067 {source="OMIA:000741", source="https://orcid.org/0000-0002-5002-8648"} ! omphalocele, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0019015 ! cross-species analog omphalocele
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000741-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010621
name: omphalocele, cattle
def: "Omphalocele that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000741-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010067 {source="OMIA:000741", source="https://orcid.org/0000-0002-5002-8648"} ! omphalocele, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019015 ! cross-species analog omphalocele
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000741-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010622
name: situs inversus, domestic cat
def: "Situs inversus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001102-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010068 {source="OMIA:001102", source="https://orcid.org/0000-0002-5002-8648"} ! situs inversus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0010029 ! cross-species analog situs inversus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001102-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010623
name: situs inversus, horse
def: "Situs inversus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001102-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010068 {source="OMIA:001102", source="https://orcid.org/0000-0002-5002-8648"} ! situs inversus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0010029 ! cross-species analog situs inversus
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001102-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010624
name: situs inversus, cattle
def: "Situs inversus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001102-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010068 {source="OMIA:001102", source="https://orcid.org/0000-0002-5002-8648"} ! situs inversus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0010029 ! cross-species analog situs inversus
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001102-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010625
name: autoimmune thrombocytopenia, dog
def: "Autoimmune thrombocytopenia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000095-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010069 {source="OMIA:000095", source="https://orcid.org/0000-0002-5002-8648"} ! autoimmune thrombocytopenia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019098 ! cross-species analog autoimmune thrombocytopenia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000095-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010626
name: autoimmune thrombocytopenia, domestic cat
def: "Autoimmune thrombocytopenia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000095-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010069 {source="OMIA:000095", source="https://orcid.org/0000-0002-5002-8648"} ! autoimmune thrombocytopenia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019098 ! cross-species analog autoimmune thrombocytopenia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000095-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010627
name: Chediak-Higashi syndrome, American mink
def: "Chediak-Higashi syndrome that occurs in American mink." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000185-452646 {source="MONDO:equivalentTo"}
is_a: MONDO:1010070 {source="OMIA:000185", source="https://orcid.org/0000-0002-5002-8648"} ! Chediak-Higashi syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:452646 ! Neogale vison
intersection_of: MONDO:0700097 MONDO:0008963 ! cross-species analog Chediak-Higashi syndrome
relationship: in_taxon NCBITaxon:452646 {source="OMIA:000185-452646", source="https://orcid.org/0000-0002-5002-8648"} ! Neogale vison
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010628
name: Chediak-Higashi syndrome, Arctic fox
def: "Chediak-Higashi syndrome that occurs in Arctic fox." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000185-494514 {source="MONDO:equivalentTo"}
is_a: MONDO:1010070 {source="OMIA:000185", source="https://orcid.org/0000-0002-5002-8648"} ! Chediak-Higashi syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:494514 ! Vulpes lagopus
intersection_of: MONDO:0700097 MONDO:0008963 ! cross-species analog Chediak-Higashi syndrome
relationship: in_taxon NCBITaxon:494514 {source="OMIA:000185-494514", source="https://orcid.org/0000-0002-5002-8648"} ! Vulpes lagopus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010629
name: Chediak-Higashi syndrome, domestic cat
def: "Chediak-Higashi syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000185-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010070 {source="OMIA:000185", source="https://orcid.org/0000-0002-5002-8648"} ! Chediak-Higashi syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008963 ! cross-species analog Chediak-Higashi syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000185-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010630
name: Chediak-Higashi syndrome, killer whale
def: "Chediak-Higashi syndrome that occurs in killer whale." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000185-9733 {source="MONDO:equivalentTo"}
is_a: MONDO:1010070 {source="OMIA:000185", source="https://orcid.org/0000-0002-5002-8648"} ! Chediak-Higashi syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9733 ! Orcinus orca
intersection_of: MONDO:0700097 MONDO:0008963 ! cross-species analog Chediak-Higashi syndrome
relationship: in_taxon NCBITaxon:9733 {source="OMIA:000185-9733", source="https://orcid.org/0000-0002-5002-8648"} ! Orcinus orca
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010631
name: Chediak-Higashi syndrome, cattle
def: "Chediak-Higashi syndrome that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000185-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010070 {source="OMIA:000185", source="https://orcid.org/0000-0002-5002-8648"} ! Chediak-Higashi syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008963 ! cross-species analog Chediak-Higashi syndrome
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000185-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010632
name: factor VII deficiency, dog
def: "Factor VII deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000361-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010071 {source="OMIA:000361", source="https://orcid.org/0000-0002-5002-8648"} ! factor VII deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002244 ! cross-species analog factor VII deficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000361-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010633
name: factor VII deficiency, Asiatic elephant
def: "Factor VII deficiency that occurs in Asiatic elephant." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000361-9783 {source="MONDO:equivalentTo"}
is_a: MONDO:1010071 {source="OMIA:000361", source="https://orcid.org/0000-0002-5002-8648"} ! factor VII deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9783 ! Elephas maximus
intersection_of: MONDO:0700097 MONDO:0002244 ! cross-species analog factor VII deficiency
relationship: in_taxon NCBITaxon:9783 {source="OMIA:000361-9783", source="https://orcid.org/0000-0002-5002-8648"} ! Elephas maximus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010634
name: factor X deficiency, dog
def: "Factor X deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000362-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010072 {source="OMIA:000362", source="https://orcid.org/0000-0002-5002-8648"} ! factor X deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002247 ! cross-species analog factor X deficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000362-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010635
name: factor X deficiency, domestic cat
def: "Factor X deficiency that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000362-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010072 {source="OMIA:000362", source="https://orcid.org/0000-0002-5002-8648"} ! factor X deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0002247 ! cross-species analog factor X deficiency
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000362-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010636
name: factor XI deficiency, dog
def: "Factor XI deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000363-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010073 {source="OMIA:000363", source="https://orcid.org/0000-0002-5002-8648"} ! factor XI deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0020587 ! cross-species analog factor XI deficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000363-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010637
name: factor XI deficiency, domestic cat
def: "Factor XI deficiency that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000363-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010073 {source="OMIA:000363", source="https://orcid.org/0000-0002-5002-8648"} ! factor XI deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0020587 ! cross-species analog factor XI deficiency
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000363-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010638
name: factor XI deficiency, cattle
def: "Factor XI deficiency that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000363-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010073 {source="OMIA:000363", source="https://orcid.org/0000-0002-5002-8648"} ! factor XI deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0020587 ! cross-species analog factor XI deficiency
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000363-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010639
name: factor XII deficiency, dog
def: "Factor XII deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000364-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010074 {source="OMIA:000364", source="https://orcid.org/0000-0002-5002-8648"} ! factor XII deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009315 ! cross-species analog congenital factor XII deficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000364-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010640
name: factor XII deficiency, domestic cat
def: "Factor XII deficiency that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000364-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010074 {source="OMIA:000364", source="https://orcid.org/0000-0002-5002-8648"} ! factor XII deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009315 ! cross-species analog congenital factor XII deficiency
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000364-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010641
name: factor XII deficiency, killer whale
def: "Factor XII deficiency that occurs in killer whale." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000364-9733 {source="MONDO:equivalentTo"}
is_a: MONDO:1010074 {source="OMIA:000364", source="https://orcid.org/0000-0002-5002-8648"} ! factor XII deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9733 ! Orcinus orca
intersection_of: MONDO:0700097 MONDO:0009315 ! cross-species analog congenital factor XII deficiency
relationship: in_taxon NCBITaxon:9733 {source="OMIA:000364-9733", source="https://orcid.org/0000-0002-5002-8648"} ! Orcinus orca
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010642
name: factor XII deficiency, common bottlenose dolphin
def: "Factor XII deficiency that occurs in common bottlenose dolphin." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000364-9739 {source="MONDO:equivalentTo"}
is_a: MONDO:1010074 {source="OMIA:000364", source="https://orcid.org/0000-0002-5002-8648"} ! factor XII deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9739 ! Tursiops truncatus
intersection_of: MONDO:0700097 MONDO:0009315 ! cross-species analog congenital factor XII deficiency
relationship: in_taxon NCBITaxon:9739 {source="OMIA:000364-9739", source="https://orcid.org/0000-0002-5002-8648"} ! Tursiops truncatus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010643
name: hemophilia B, dog
def: "Hemophilia B that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000438-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010075 {source="OMIA:000438", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia B, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010604 ! cross-species analog hemophilia B
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000438-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010644
name: hemophilia B, domestic cat
def: "Hemophilia B that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000438-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010075 {source="OMIA:000438", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia B, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0010604 ! cross-species analog hemophilia B
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000438-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010645
name: hemophilia B, horse
def: "Hemophilia B that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000438-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010075 {source="OMIA:000438", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia B, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0010604 ! cross-species analog hemophilia B
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000438-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010646
name: hemophilia B, pig
def: "Hemophilia B that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000438-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010075 {source="OMIA:000438", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia B, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0010604 ! cross-species analog hemophilia B
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000438-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010647
name: hypereosinophilic syndrome, dog
def: "Hypereosinophilic syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000502-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010076 {source="OMIA:000502", source="https://orcid.org/0000-0002-5002-8648"} ! hypereosinophilic syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0015691 ! cross-species analog hypereosinophilic syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000502-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010648
name: hypereosinophilic syndrome, domestic cat
def: "Hypereosinophilic syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000502-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010076 {source="OMIA:000502", source="https://orcid.org/0000-0002-5002-8648"} ! hypereosinophilic syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0015691 ! cross-species analog hypereosinophilic syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000502-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010649
name: hypereosinophilic syndrome, horse
def: "Hypereosinophilic syndrome that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000502-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010076 {source="OMIA:000502", source="https://orcid.org/0000-0002-5002-8648"} ! hypereosinophilic syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0015691 ! cross-species analog hypereosinophilic syndrome
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000502-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010650
name: Pelger-Huet anomaly, dog
def: "Pelger-Huet anomaly that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000783-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010077 {source="OMIA:000783", source="https://orcid.org/0000-0002-5002-8648"} ! Pelger-Huet anomaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008214 ! cross-species analog Pelger-Huet anomaly
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000783-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010651
name: Pelger-Huet anomaly, domestic cat
def: "Pelger-Huet anomaly that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000783-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010077 {source="OMIA:000783", source="https://orcid.org/0000-0002-5002-8648"} ! Pelger-Huet anomaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008214 ! cross-species analog Pelger-Huet anomaly
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000783-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010652
name: Pelger-Huet anomaly, rabbit
def: "Pelger-Huet anomaly that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000783-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010077 {source="OMIA:000783", source="https://orcid.org/0000-0002-5002-8648"} ! Pelger-Huet anomaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0008214 ! cross-species analog Pelger-Huet anomaly
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000783-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010653
name: polycythemia, dog
def: "Polycythemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000809-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010078 {source="OMIA:000809", source="https://orcid.org/0000-0002-5002-8648"} ! polycythemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005571 ! cross-species analog polycythemia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000809-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010654
name: polycythemia, domestic cat
def: "Polycythemia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000809-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010078 {source="OMIA:000809", source="https://orcid.org/0000-0002-5002-8648"} ! polycythemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005571 ! cross-species analog polycythemia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000809-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010655
name: polycythemia, llama
def: "Polycythemia that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000809-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1010078 {source="OMIA:000809", source="https://orcid.org/0000-0002-5002-8648"} ! polycythemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0005571 ! cross-species analog polycythemia
relationship: in_taxon NCBITaxon:9844 {source="OMIA:000809-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010656
name: polycythemia, cattle
def: "Polycythemia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000809-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010078 {source="OMIA:000809", source="https://orcid.org/0000-0002-5002-8648"} ! polycythemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005571 ! cross-species analog polycythemia
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000809-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010657
name: prekallikrein deficiency, dog
def: "Prekallikrein deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000819-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010079 {source="OMIA:000819", source="https://orcid.org/0000-0002-5002-8648"} ! prekallikrein deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0044744 ! cross-species analog prekallikrein deficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000819-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010658
name: prekallikrein deficiency, horse
def: "Prekallikrein deficiency that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000819-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010079 {source="OMIA:000819", source="https://orcid.org/0000-0002-5002-8648"} ! prekallikrein deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0044744 ! cross-species analog prekallikrein deficiency
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000819-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010659
name: thrombocytopenia, dog
def: "Thrombocytopenia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001001-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010080 {source="OMIA:001001", source="https://orcid.org/0000-0002-5002-8648"} ! thrombocytopenia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002049 ! cross-species analog thrombocytopenia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001001-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010660
name: thrombocytopenia, domestic cat
def: "Thrombocytopenia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001001-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010080 {source="OMIA:001001", source="https://orcid.org/0000-0002-5002-8648"} ! thrombocytopenia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0002049 ! cross-species analog thrombocytopenia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001001-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010661
name: thrombocytopenia, horse
def: "Thrombocytopenia that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001001-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010080 {source="OMIA:001001", source="https://orcid.org/0000-0002-5002-8648"} ! thrombocytopenia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0002049 ! cross-species analog thrombocytopenia
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001001-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010662
name: thrombocytopenia, cattle
def: "Thrombocytopenia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001001-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010080 {source="OMIA:001001", source="https://orcid.org/0000-0002-5002-8648"} ! thrombocytopenia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0002049 ! cross-species analog thrombocytopenia
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001001-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010663
name: autoimmune thrombocytopenic purpura, dog
def: "Autoimmune thrombocytopenic purpura that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001104-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010081 {source="OMIA:001104", source="https://orcid.org/0000-0002-5002-8648"} ! autoimmune thrombocytopenic purpura, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008558 ! cross-species analog autoimmune thrombocytopenic purpura
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001104-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010664
name: autoimmune thrombocytopenic purpura, pig
def: "Autoimmune thrombocytopenic purpura that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001104-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010081 {source="OMIA:001104", source="https://orcid.org/0000-0002-5002-8648"} ! autoimmune thrombocytopenic purpura, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0008558 ! cross-species analog autoimmune thrombocytopenic purpura
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001104-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010665
name: Evans syndrome, horse
def: "Evans syndrome that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001286-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010082 {source="OMIA:001286", source="https://orcid.org/0000-0002-5002-8648"} ! Evans syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0016030 ! cross-species analog Evans syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001286-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010666
name: Scott Syndrome, dog
def: "Scott Syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001353-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010083 {source="OMIA:001353", source="https://orcid.org/0000-0002-5002-8648"} ! Scott Syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009885 ! cross-species analog Scott syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001353-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010668
name: factor XIII deficiency, cattle
def: "Factor XIII deficiency that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001818-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010085 {source="OMIA:001818", source="https://orcid.org/0000-0002-5002-8648"} ! factor XIII deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0002241 ! cross-species analog factor XIII deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001818-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010669
name: myeloperoxidase deficiency, dog
def: "Myeloperoxidase deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002028-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010086 {source="OMIA:002028", source="https://orcid.org/0000-0002-5002-8648"} ! myeloperoxidase deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009694 ! cross-species analog myeloperoxidase deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002028-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010675
name: anotia, cattle
def: "Anotia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001411-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010090 {source="OMIA:001411", source="https://orcid.org/0000-0002-5002-8648"} ! anotia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019780 ! cross-species analog anotia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001411-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010676
name: microtia, pig
def: "Microtia that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001952-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010091 {source="OMIA:001952", source="https://orcid.org/0000-0002-5002-8648"} ! microtia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0010920 ! cross-species analog microtia
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001952-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010677
name: microtia, sheep
def: "Microtia that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001952-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010091 {source="OMIA:001952", source="https://orcid.org/0000-0002-5002-8648"} ! microtia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0010920 ! cross-species analog microtia
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001952-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010678
name: AA amyloidosis, island gray fox
def: "AA amyloidosis that occurs in island gray fox." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-244585 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:244585 ! Urocyon littoralis
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:244585 {source="OMIA:000038-244585", source="https://orcid.org/0000-0002-5002-8648"} ! Urocyon littoralis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010680
name: AA amyloidosis, cheetah
def: "AA amyloidosis that occurs in cheetah." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-32536 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:32536 ! Acinonyx jubatus
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:32536 {source="OMIA:000038-32536", source="https://orcid.org/0000-0002-5002-8648"} ! Acinonyx jubatus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010681
name: AA amyloidosis, northern tree shrew
def: "AA amyloidosis that occurs in northern tree shrew." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-37347 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:37347 ! Tupaia belangeri
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:37347 {source="OMIA:000038-37347", source="https://orcid.org/0000-0002-5002-8648"} ! Tupaia belangeri
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010682
name: AA amyloidosis, zebra finch
def: "AA amyloidosis that occurs in zebra finch." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-59729 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:59729 ! Taeniopygia guttata
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:59729 {source="OMIA:000038-59729", source="https://orcid.org/0000-0002-5002-8648"} ! Taeniopygia guttata
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010683
name: AA amyloidosis, chicken
def: "AA amyloidosis that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000038-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010684
name: AA amyloidosis, bats
def: "AA amyloidosis that occurs in bats." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9397 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9397 ! Chiroptera
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9397 {source="OMIA:000038-9397", source="https://orcid.org/0000-0002-5002-8648"} ! Chiroptera
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010685
name: AA amyloidosis, white-tufted-ear marmoset
def: "AA amyloidosis that occurs in white-tufted-ear marmoset." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9483 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9483 ! Callithrix jacchus
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9483 {source="OMIA:000038-9483", source="https://orcid.org/0000-0002-5002-8648"} ! Callithrix jacchus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010686
name: AA amyloidosis, dog
def: "AA amyloidosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000038-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010687
name: AA amyloidosis, red fox
def: "AA amyloidosis that occurs in red fox." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9627 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9627 ! Vulpes vulpes
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9627 {source="OMIA:000038-9627", source="https://orcid.org/0000-0002-5002-8648"} ! Vulpes vulpes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010688
name: AA amyloidosis, domestic cat
def: "AA amyloidosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000038-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010689
name: AA amyloidosis, Sumatran tiger
def: "AA amyloidosis that occurs in Sumatran tiger." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9695 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9695 ! Panthera tigris sumatrae
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9695 {source="OMIA:000038-9695", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera tigris sumatrae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010690
name: AA amyloidosis, pig
def: "AA amyloidosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000038-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010691
name: AA amyloidosis, cattle
def: "AA amyloidosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000038-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010692
name: AA amyloidosis, goat
def: "AA amyloidosis that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000038-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010693
name: AA amyloidosis, sheep
def: "AA amyloidosis that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000038-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010092 {source="OMIA:000038", source="https://orcid.org/0000-0002-5002-8648"} ! AA amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0019439 ! cross-species analog AA amyloidosis
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000038-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010694
name: AL amyloidosis, domestic cat
def: "AL amyloidosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000039-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010093 {source="OMIA:000039", source="https://orcid.org/0000-0002-5002-8648"} ! AL amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019438 ! cross-species analog AL amyloidosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000039-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010695
name: AL amyloidosis, horse
def: "AL amyloidosis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000039-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010093 {source="OMIA:000039", source="https://orcid.org/0000-0002-5002-8648"} ! AL amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0019438 ! cross-species analog AL amyloidosis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000039-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010696
name: analphalipoproteinaemia, chicken
def: "Analphalipoproteinaemia that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000042-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010094 {source="OMIA:000042", source="https://orcid.org/0000-0002-5002-8648"} ! analphalipoproteinaemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0008783 ! cross-species analog Tangier disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000042-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010697
name: citrullinaemia, cattle
def: "Citrullinemia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000194-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010095 {source="OMIA:000194", source="https://orcid.org/0000-0002-5002-8648"} ! citrullinemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0015991 ! cross-species analog citrullinemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000194-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010701
name: pyruvate kinase deficiency of erythrocyte, dog
def: "Pyruvate kinase deficiency of erythrocyte that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000844-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010099 {source="OMIA:000844", source="https://orcid.org/0000-0002-5002-8648"} ! pyruvate kinase deficiency of erythrocyte, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009950 ! cross-species analog pyruvate kinase deficiency of red cells
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000844-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010702
name: pyruvate kinase deficiency of erythrocyte, domestic cat
def: "Pyruvate kinase deficiency of erythrocyte that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000844-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010099 {source="OMIA:000844", source="https://orcid.org/0000-0002-5002-8648"} ! pyruvate kinase deficiency of erythrocyte, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009950 ! cross-species analog pyruvate kinase deficiency of red cells
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000844-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010705
name: galactosemia, kangaroo
def: "Galactosemia that occurs in kangaroo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001144-9322 {source="MONDO:equivalentTo"}
is_a: MONDO:1010101 {source="OMIA:001144", source="https://orcid.org/0000-0002-5002-8648"} ! galactosemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9322 ! Macropus sp.
intersection_of: MONDO:0700097 MONDO:0018116 ! cross-species analog galactosemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9322 {source="OMIA:001144-9322", source="https://orcid.org/0000-0002-5002-8648"} ! Macropus sp.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010706
name: porphyria cutanea tarda, pig
def: "Porphyria cutanea tarda that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001176-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010102 {source="OMIA:001176", source="https://orcid.org/0000-0002-5002-8648"} ! porphyria cutanea tarda, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0015104 ! cross-species analog porphyria cutanea tarda
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001176-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010707
name: porphyria cutanea tarda, sheep
def: "Porphyria cutanea tarda that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001176-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010102 {source="OMIA:001176", source="https://orcid.org/0000-0002-5002-8648"} ! porphyria cutanea tarda, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0015104 ! cross-species analog porphyria cutanea tarda
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001176-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010708
name: eclampsia, dog
def: "Eclampsia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001331-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010103 {source="OMIA:001331", source="https://orcid.org/0000-0002-5002-8648"} ! eclampsia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001754 ! cross-species analog eclampsia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001331-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010709
name: trimethylaminuria (fishy taint), mallard
def: "Trimethylaminuria (fishy taint) that occurs in mallard." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001360-8839 {source="MONDO:equivalentTo"}
is_a: MONDO:1010104 {source="OMIA:001360", source="https://orcid.org/0000-0002-5002-8648"} ! trimethylaminuria (fishy taint), non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8839 ! Anas platyrhynchos
intersection_of: MONDO:0700097 MONDO:0018767 ! cross-species analog severe primary trimethylaminuria
relationship: in_taxon NCBITaxon:8839 {source="OMIA:001360-8839", source="https://orcid.org/0000-0002-5002-8648"} ! Anas platyrhynchos
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010710
name: trimethylaminuria (fishy taint), chicken
def: "Trimethylaminuria (fishy taint) that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001360-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010104 {source="OMIA:001360", source="https://orcid.org/0000-0002-5002-8648"} ! trimethylaminuria (fishy taint), non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0018767 ! cross-species analog severe primary trimethylaminuria
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001360-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010711
name: trimethylaminuria (fishy taint), Japanese quail
def: "Trimethylaminuria (fishy taint) that occurs in Japanese quail." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001360-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1010104 {source="OMIA:001360", source="https://orcid.org/0000-0002-5002-8648"} ! trimethylaminuria (fishy taint), non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:93934 ! Coturnix japonica
intersection_of: MONDO:0700097 MONDO:0018767 ! cross-species analog severe primary trimethylaminuria
relationship: in_taxon NCBITaxon:93934 {source="OMIA:001360-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010712
name: trimethylaminuria (fishy taint), cattle
def: "Trimethylaminuria (fishy taint) that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001360-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010104 {source="OMIA:001360", source="https://orcid.org/0000-0002-5002-8648"} ! trimethylaminuria (fishy taint), non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0018767 ! cross-species analog severe primary trimethylaminuria
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001360-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010713
name: pyruvate dehydrogenase deficiency, dog
def: "Pyruvate dehydrogenase deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001406-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010105 {source="OMIA:001406", source="https://orcid.org/0000-0002-5002-8648"} ! pyruvate dehydrogenase deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019169 ! cross-species analog pyruvate dehydrogenase deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001406-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010714
name: multiple acyl-CoA dehydrogenase deficiency, domestic cat
def: "Multiple acyl-coa dehydrogenase deficiency that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001457-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010106 {source="OMIA:001457", source="https://orcid.org/0000-0002-5002-8648"} ! multiple acyl-coa dehydrogenase deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009282 ! cross-species analog multiple acyl-CoA dehydrogenase deficiency
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001457-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010715
name: multiple acyl-CoA dehydrogenase deficiency, horse
def: "Multiple acyl-coa dehydrogenase deficiency that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001457-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010106 {source="OMIA:001457", source="https://orcid.org/0000-0002-5002-8648"} ! multiple acyl-coa dehydrogenase deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0009282 ! cross-species analog multiple acyl-CoA dehydrogenase deficiency
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001457-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010716
name: acute intermittent porphyria, domestic cat
def: "Acute intermittent porphyria that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001493-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010107 {source="OMIA:001493", source="https://orcid.org/0000-0002-5002-8648"} ! acute intermittent porphyria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008294 ! cross-species analog acute intermittent porphyria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001493-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010718
name: dihydropyrimidinase deficiency, domestic cat
def: "Dihydropyrimidinase deficiency that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001776-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010109 {source="OMIA:001776", source="https://orcid.org/0000-0002-5002-8648"} ! dihydropyrimidinase deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009111 ! cross-species analog dihydropyrimidinuria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001776-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010719
name: hyperphosphatemia, cattle
def: "Hyperphosphatemia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002052-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010110 {source="OMIA:002052", source="https://orcid.org/0000-0002-5002-8648"} ! hyperphosphatemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0000328 ! cross-species analog hyperphosphatemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002052-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010723
name: glucocorticoid resistance, dog
def: "Glucocorticoid resistance that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002254-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010113 {source="OMIA:002254", source="https://orcid.org/0000-0002-5002-8648"} ! glucocorticoid resistance, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0014421 ! cross-species analog glucocorticoid resistance
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002254-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010724
name: phenylketonuria, pig
def: "Phenylketonuria that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002293-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010114 {source="OMIA:002293", source="https://orcid.org/0000-0002-5002-8648"} ! phenylketonuria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0009861 ! cross-species analog phenylketonuria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002293-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010725
name: c8 deficiency, rabbit
def: "C8 deficiency that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000156-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010115 {source="OMIA:000156", source="https://orcid.org/0000-0002-5002-8648"} ! c8 deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0013422 ! cross-species analog type I complement component 8 deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000156-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010733
name: systemic lupus erythematosus, dog
def: "Systemic lupus erythematosus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000968-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010118 {source="OMIA:000968", source="https://orcid.org/0000-0002-5002-8648"} ! systemic lupus erythematosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0007915 ! cross-species analog systemic lupus erythematosus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000968-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010734
name: systemic lupus erythematosus, domestic cat
def: "Systemic lupus erythematosus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000968-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010118 {source="OMIA:000968", source="https://orcid.org/0000-0002-5002-8648"} ! systemic lupus erythematosus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0007915 ! cross-species analog systemic lupus erythematosus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000968-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010735
name: scleroderma, chicken
def: "Scleroderma that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001202-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010119 {source="OMIA:001202", source="https://orcid.org/0000-0002-5002-8648"} ! scleroderma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0019340 ! cross-species analog scleroderma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001202-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010737
name: periodic fever syndrome, dog
def: "Periodic fever syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001561-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010121 {source="OMIA:001561", source="https://orcid.org/0000-0002-5002-8648"} ! periodic fever syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0015137 ! cross-species analog periodic fever syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001561-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010740
name: common variable immunodeficiency, horse
def: "Common variable immunodeficiency that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001760-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010123 {source="OMIA:001760", source="https://orcid.org/0000-0002-5002-8648"} ! common variable immunodeficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0015517 ! cross-species analog common variable immunodeficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001760-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010741
name: autoimmune lymphoproliferative syndrome, domestic cat
def: "Autoimmune lymphoproliferative syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002064-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010124 {source="OMIA:002064", source="https://orcid.org/0000-0002-5002-8648"} ! autoimmune lymphoproliferative syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0017979 ! cross-species analog autoimmune lymphoproliferative syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002064-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010743
name: atopic dermatitis, dog
def: "Atopic dermatitis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000269-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010126 {source="OMIA:000269", source="https://orcid.org/0000-0002-5002-8648"} ! atopic dermatitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0011292 ! cross-species analog dermatitis, atopic
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000269-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010744
name: atopic dermatitis, domestic cat
def: "Atopic dermatitis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000269-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010126 {source="OMIA:000269", source="https://orcid.org/0000-0002-5002-8648"} ! atopic dermatitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0011292 ! cross-species analog dermatitis, atopic
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000269-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010745
name: dermatomyositis, dog
def: "Dermatomyositis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000270-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010127 {source="OMIA:000270", source="https://orcid.org/0000-0002-5002-8648"} ! dermatomyositis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0016367 ! cross-species analog dermatomyositis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000270-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010750
name: epidermolysis bullosa, dog
def: "Epidermolysis bullosa that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000340-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010129 {source="OMIA:000340", source="https://orcid.org/0000-0002-5002-8648"} ! epidermolysis bullosa, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0006541 ! cross-species analog epidermolysis bullosa
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000340-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010751
name: epidermolysis bullosa, cattle
def: "Epidermolysis bullosa that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000340-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010129 {source="OMIA:000340", source="https://orcid.org/0000-0002-5002-8648"} ! epidermolysis bullosa, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0006541 ! cross-species analog epidermolysis bullosa
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000340-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010752
name: hypertrichosis, dog
def: "Hypertrichosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000513-9615 {source="MONDO:equivalentTo"}
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019280 ! cross-species analog hypertrichosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000513-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010753
name: hypertrichosis, cattle
def: "Hypertrichosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000513-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010130 {source="OMIA:000513", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrichosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019280 ! cross-species analog hypertrichosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000513-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010757
name: acrodermatitis enteropathica, dog
def: "Acrodermatitis enteropathica that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000593-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010133 {source="OMIA:000593", source="https://orcid.org/0000-0002-5002-8648"} ! acrodermatitis enteropathica, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008713 ! cross-species analog acrodermatitis enteropathica
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000593-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010758
name: acrodermatitis enteropathica, domestic cat
def: "Acrodermatitis enteropathica that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000593-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010133 {source="OMIA:000593", source="https://orcid.org/0000-0002-5002-8648"} ! acrodermatitis enteropathica, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008713 ! cross-species analog acrodermatitis enteropathica
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000593-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010759
name: acrodermatitis enteropathica, cattle
def: "Acrodermatitis enteropathica that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000593-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010133 {source="OMIA:000593", source="https://orcid.org/0000-0002-5002-8648"} ! acrodermatitis enteropathica, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008713 ! cross-species analog acrodermatitis enteropathica
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000593-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010760
name: pityriasis rosea, pig
def: "Pityriasis rosea that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000801-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010134 {source="OMIA:000801", source="https://orcid.org/0000-0002-5002-8648"} ! pityriasis rosea, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0006601 ! cross-species analog pityriasis rosea
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000801-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010761
name: protoporphyria, chicken
def: "Protoporphyria that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000836-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010135 {source="OMIA:000836", source="https://orcid.org/0000-0002-5002-8648"} ! protoporphyria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0008319 ! cross-species analog protoporphyria, erythropoietic, 1
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000836-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010762
name: protoporphyria, cattle
def: "Protoporphyria that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000836-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010135 {source="OMIA:000836", source="https://orcid.org/0000-0002-5002-8648"} ! protoporphyria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008319 ! cross-species analog protoporphyria, erythropoietic, 1
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000836-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010763
name: vitiligo, water buffalo
def: "Vitiligo that occurs in water buffalo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001055-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1010136 {source="OMIA:001055", source="https://orcid.org/0000-0002-5002-8648"} ! vitiligo, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:89462 ! Bubalus bubalis
intersection_of: MONDO:0700097 MONDO:0008661 ! cross-species analog vitiligo
relationship: in_taxon NCBITaxon:89462 {source="OMIA:001055-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010764
name: vitiligo, chicken
def: "Vitiligo that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001055-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010136 {source="OMIA:001055", source="https://orcid.org/0000-0002-5002-8648"} ! vitiligo, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0008661 ! cross-species analog vitiligo
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001055-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010765
name: vitiligo, dog
def: "Vitiligo that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001055-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010136 {source="OMIA:001055", source="https://orcid.org/0000-0002-5002-8648"} ! vitiligo, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008661 ! cross-species analog vitiligo
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001055-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010766
name: vitiligo, domestic cat
def: "Vitiligo that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001055-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010136 {source="OMIA:001055", source="https://orcid.org/0000-0002-5002-8648"} ! vitiligo, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008661 ! cross-species analog vitiligo
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001055-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010767
name: vitiligo, horse
def: "Vitiligo that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001055-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010136 {source="OMIA:001055", source="https://orcid.org/0000-0002-5002-8648"} ! vitiligo, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0008661 ! cross-species analog vitiligo
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001055-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010768
name: vitiligo, cattle
def: "Vitiligo that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001055-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010136 {source="OMIA:001055", source="https://orcid.org/0000-0002-5002-8648"} ! vitiligo, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008661 ! cross-species analog vitiligo
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001055-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010769
name: bullous pemphigoid, Rhesus monkey
def: "Bullous pemphigoid that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001183-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1010137 {source="OMIA:001183", source="https://orcid.org/0000-0002-5002-8648"} ! bullous pemphigoid, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0019082 ! cross-species analog bullous pemphigoid
relationship: in_taxon NCBITaxon:9544 {source="OMIA:001183-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010770
name: bullous pemphigoid, dog
def: "Bullous pemphigoid that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001183-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010137 {source="OMIA:001183", source="https://orcid.org/0000-0002-5002-8648"} ! bullous pemphigoid, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019082 ! cross-species analog bullous pemphigoid
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001183-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010771
name: bullous pemphigoid, pig
def: "Bullous pemphigoid that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001183-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010137 {source="OMIA:001183", source="https://orcid.org/0000-0002-5002-8648"} ! bullous pemphigoid, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0019082 ! cross-species analog bullous pemphigoid
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001183-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010772
name: pemphigus, dog
def: "Pemphigus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001188-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010138 {source="OMIA:001188", source="https://orcid.org/0000-0002-5002-8648"} ! pemphigus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0006594 ! cross-species analog pemphigus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001188-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010773
name: pemphigus, domestic cat
def: "Pemphigus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001188-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010138 {source="OMIA:001188", source="https://orcid.org/0000-0002-5002-8648"} ! pemphigus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0006594 ! cross-species analog pemphigus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001188-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010774
name: pemphigus, horse
def: "Pemphigus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001188-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010138 {source="OMIA:001188", source="https://orcid.org/0000-0002-5002-8648"} ! pemphigus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0006594 ! cross-species analog pemphigus
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001188-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010775
name: pemphigus, cattle
def: "Pemphigus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001188-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010138 {source="OMIA:001188", source="https://orcid.org/0000-0002-5002-8648"} ! pemphigus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0006594 ! cross-species analog pemphigus
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001188-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010776
name: pemphigus, goat
def: "Pemphigus that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001188-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010138 {source="OMIA:001188", source="https://orcid.org/0000-0002-5002-8648"} ! pemphigus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0006594 ! cross-species analog pemphigus
relationship: in_taxon NCBITaxon:9925 {source="OMIA:001188-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010777
name: atrichia with papular lesions, Rhesus monkey
def: "Atrichia with papular lesions that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001348-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1010139 {source="OMIA:001348", source="https://orcid.org/0000-0002-5002-8648"} ! atrichia with papular lesions, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0008847 ! cross-species analog atrichia with papular lesions
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9544 {source="OMIA:001348-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010778
name: alopecia areata, dog
def: "Alopecia areata that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001702-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010140 {source="OMIA:001702", source="https://orcid.org/0000-0002-5002-8648"} ! alopecia areata, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005340 ! cross-species analog alopecia areata
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001702-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010779
name: alopecia areata, domestic cat
def: "Alopecia areata that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001702-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010140 {source="OMIA:001702", source="https://orcid.org/0000-0002-5002-8648"} ! alopecia areata, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005340 ! cross-species analog alopecia areata
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001702-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010780
name: alopecia areata, horse
def: "Alopecia areata that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001702-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010140 {source="OMIA:001702", source="https://orcid.org/0000-0002-5002-8648"} ! alopecia areata, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005340 ! cross-species analog alopecia areata
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001702-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010781
name: alopecia areata, pig
def: "Alopecia areata that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001702-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010140 {source="OMIA:001702", source="https://orcid.org/0000-0002-5002-8648"} ! alopecia areata, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005340 ! cross-species analog alopecia areata
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001702-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010782
name: alopecia areata, cattle
def: "Alopecia areata that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001702-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010140 {source="OMIA:001702", source="https://orcid.org/0000-0002-5002-8648"} ! alopecia areata, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005340 ! cross-species analog alopecia areata
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001702-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010783
name: ectodermal dysplasia/skin fragility syndrome, dog
def: "Ectodermal dysplasia/skin fragility syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001864-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010141 {source="OMIA:001864", source="https://orcid.org/0000-0002-5002-8648"} ! ectodermal dysplasia/skin fragility syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0011472 ! cross-species analog epidermolysis bullosa simplex due to plakophilin deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001864-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010784
name: pyoderma, dog
def: "Pyoderma that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001877-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010142 {source="OMIA:001877", source="https://orcid.org/0000-0002-5002-8648"} ! pyoderma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002922 ! cross-species analog pyoderma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001877-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010785
name: incontinentia pigmenti, horse
def: "Incontinentia pigmenti that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001899-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010143 {source="OMIA:001899", source="https://orcid.org/0000-0002-5002-8648"} ! incontinentia pigmenti, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0010631 ! cross-species analog incontinentia pigmenti
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001899-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010789
name: stiff skin syndrome, dog
def: "Stiff skin syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002018-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010147 {source="OMIA:002018", source="https://orcid.org/0000-0002-5002-8648"} ! stiff skin syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008492 ! cross-species analog stiff skin syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002018-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010791
name: tricho-dento-osseous-like syndrome, cattle
def: "Tricho-dento-osseous-like syndrome that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002109-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010149 {source="OMIA:002109", source="https://orcid.org/0000-0002-5002-8648"} ! tricho-dento-osseous-like syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008592 ! cross-species analog tricho-dento-osseous syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002109-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010796
name: Darier disease, dog
def: "Darier disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002265-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010153 {source="OMIA:002265", source="https://orcid.org/0000-0002-5002-8648"} ! Darier disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0007417 ! cross-species analog Darier disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002265-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010799
name: cutis laxa, sika deer
def: "Cutis laxa that occurs in sika deer." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002404-9863 {source="MONDO:equivalentTo"}
is_a: MONDO:1010155 {source="OMIA:002404", source="https://orcid.org/0000-0002-5002-8648"} ! cutis laxa, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9863 ! Cervus nippon
intersection_of: MONDO:0700097 MONDO:0016175 ! cross-species analog cutis laxa
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9863 {source="OMIA:002404-9863", source="https://orcid.org/0000-0002-5002-8648"} ! Cervus nippon
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010800
name: brachydactyly, chicken
def: "Brachydactyly that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000146-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010156 {source="OMIA:000146", source="https://orcid.org/0000-0002-5002-8648"} ! brachydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0021004 ! cross-species analog brachydactyly
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000146-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010801
name: brachydactyly, dog
def: "Brachydactyly that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000146-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010156 {source="OMIA:000146", source="https://orcid.org/0000-0002-5002-8648"} ! brachydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0021004 ! cross-species analog brachydactyly
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000146-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010802
name: brachydactyly, pig
def: "Brachydactyly that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000146-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010156 {source="OMIA:000146", source="https://orcid.org/0000-0002-5002-8648"} ! brachydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0021004 ! cross-species analog brachydactyly
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000146-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010803
name: brachydactyly, rabbit
def: "Brachydactyly that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000146-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010156 {source="OMIA:000146", source="https://orcid.org/0000-0002-5002-8648"} ! brachydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0021004 ! cross-species analog brachydactyly
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000146-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010804
name: hyperostosis, pig
def: "Hyperostosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000507-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010157 {source="OMIA:000507", source="https://orcid.org/0000-0002-5002-8648"} ! hyperostosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0002185 ! cross-species analog hyperostosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000507-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010805
name: polydactyly, domestic guinea pig
def: "Polydactyly that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000810-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010806
name: polydactyly, alpaca
def: "Polydactyly that occurs in alpaca." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-30538 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:30538 ! Vicugna pacos
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:30538 {source="OMIA:000810-30538", source="https://orcid.org/0000-0002-5002-8648"} ! Vicugna pacos
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010807
name: polydactyly, springbok
def: "Polydactyly that occurs in springbok." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-59523 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:59523 ! Antidorcas marsupialis
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:59523 {source="OMIA:000810-59523", source="https://orcid.org/0000-0002-5002-8648"} ! Antidorcas marsupialis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010808
name: polydactyly, rock pigeon
def: "Polydactyly that occurs in rock pigeon." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-8932 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8932 ! Columba livia
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:8932 {source="OMIA:000810-8932", source="https://orcid.org/0000-0002-5002-8648"} ! Columba livia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010809
name: polydactyly, chicken
def: "Polydactyly that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000810-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010810
name: polydactyly, turkey
def: "Polydactyly that occurs in turkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9103 ! Meleagris gallopavo
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9103 {source="OMIA:000810-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010811
name: polydactyly, dog
def: "Polydactyly that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000810-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010812
name: polydactyly, domestic cat
def: "Polydactyly that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000810-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010813
name: polydactyly, horse
def: "Polydactyly that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000810-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010814
name: polydactyly, pig
def: "Polydactyly that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000810-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010815
name: polydactyly, Arabian camel
def: "Polydactyly that occurs in Arabian camel." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9838 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9838 ! Camelus dromedarius
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9838 {source="OMIA:000810-9838", source="https://orcid.org/0000-0002-5002-8648"} ! Camelus dromedarius
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010816
name: polydactyly, guanaco
def: "Polydactyly that occurs in guanaco." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9840 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9840 ! Lama guanicoe
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9840 {source="OMIA:000810-9840", source="https://orcid.org/0000-0002-5002-8648"} ! Lama guanicoe
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010817
name: polydactyly, llama
def: "Polydactyly that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9844 {source="OMIA:000810-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010818
name: polydactyly, Western roe deer
def: "Polydactyly that occurs in Western roe deer." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9858 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9858 ! Capreolus capreolus
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9858 {source="OMIA:000810-9858", source="https://orcid.org/0000-0002-5002-8648"} ! Capreolus capreolus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010819
name: polydactyly, cattle
def: "Polydactyly that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000810-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010820
name: polydactyly, goat
def: "Polydactyly that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000810-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010821
name: polydactyly, sheep
def: "Polydactyly that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000810-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010158 {source="OMIA:000810", source="https://orcid.org/0000-0002-5002-8648"} ! polydactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0021003 ! cross-species analog polydactyly
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000810-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010822
name: split hand, domestic cat
def: "Split hand that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000942-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010159 {source="OMIA:000942", source="https://orcid.org/0000-0002-5002-8648"} ! split hand, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0017449 ! cross-species analog split hand
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000942-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010823
name: syndactyly, Swainson's hawk
def: "Syndactyly that occurs in Swainson's hawk." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000963-156757 {source="MONDO:equivalentTo"}
is_a: MONDO:1010160 {source="OMIA:000963", source="https://orcid.org/0000-0002-5002-8648"} ! syndactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:156757 ! Buteo swainsoni
intersection_of: MONDO:0700097 MONDO:0021002 ! cross-species analog syndactyly
relationship: in_taxon NCBITaxon:156757 {source="OMIA:000963-156757", source="https://orcid.org/0000-0002-5002-8648"} ! Buteo swainsoni
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010824
name: syndactyly, chicken
def: "Syndactyly that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000963-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010160 {source="OMIA:000963", source="https://orcid.org/0000-0002-5002-8648"} ! syndactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0021002 ! cross-species analog syndactyly
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000963-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010825
name: syndactyly, dog
def: "Syndactyly that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000963-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010160 {source="OMIA:000963", source="https://orcid.org/0000-0002-5002-8648"} ! syndactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0021002 ! cross-species analog syndactyly
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000963-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010826
name: syndactyly, domestic cat
def: "Syndactyly that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000963-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010160 {source="OMIA:000963", source="https://orcid.org/0000-0002-5002-8648"} ! syndactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0021002 ! cross-species analog syndactyly
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000963-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010827
name: syndactyly, cattle
def: "Syndactyly that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000963-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010160 {source="OMIA:000963", source="https://orcid.org/0000-0002-5002-8648"} ! syndactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0021002 ! cross-species analog syndactyly
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000963-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010828
name: syndactyly, sheep
def: "Syndactyly that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000963-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010160 {source="OMIA:000963", source="https://orcid.org/0000-0002-5002-8648"} ! syndactyly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0021002 ! cross-species analog syndactyly
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000963-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010829
name: tibial hemimelia, cattle
def: "Tibial hemimelia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001009-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010161 {source="OMIA:001009", source="https://orcid.org/0000-0002-5002-8648"} ! tibial hemimelia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0010144 ! cross-species analog tibial hemimelia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001009-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010830
name: radial hemimelia, domestic cat
def: "Radial hemimelia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002225-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010162 {source="OMIA:002225", source="https://orcid.org/0000-0002-5002-8648"} ! radial hemimelia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019671 ! cross-species analog radial hemimelia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002225-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010831
name: tetradysmelia, cattle
def: "Tetradysmelia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002297-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010163 {source="OMIA:002297", source="https://orcid.org/0000-0002-5002-8648"} ! tetradysmelia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0060732 ! cross-species analog tetraamelia syndrome 2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002297-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010832
name: Wilson disease, dog
def: "Wilson disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001071-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010164 {source="OMIA:001071", source="https://orcid.org/0000-0002-5002-8648"} ! Wilson disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010200 ! cross-species analog Wilson disease
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001071-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010833
name: Wilson disease, domestic cat
def: "Wilson disease that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001071-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010164 {source="OMIA:001071", source="https://orcid.org/0000-0002-5002-8648"} ! Wilson disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0010200 ! cross-species analog Wilson disease
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001071-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010834
name: Wilson disease, pig
def: "Wilson disease that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001071-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010164 {source="OMIA:001071", source="https://orcid.org/0000-0002-5002-8648"} ! Wilson disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0010200 ! cross-species analog Wilson disease
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001071-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010835
name: Wilson disease, cattle
def: "Wilson disease that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001071-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010164 {source="OMIA:001071", source="https://orcid.org/0000-0002-5002-8648"} ! Wilson disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0010200 ! cross-species analog Wilson disease
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001071-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010836
name: Wilson disease, sheep
def: "Wilson disease that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001071-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010164 {source="OMIA:001071", source="https://orcid.org/0000-0002-5002-8648"} ! Wilson disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0010200 ! cross-species analog Wilson disease
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001071-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010838
name: galactosialidosis, dog
def: "Galactosialidosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000400-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010166 {source="OMIA:000400", source="https://orcid.org/0000-0002-5002-8648"} ! galactosialidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009737 ! cross-species analog galactosialidosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000400-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010839
name: gangliosidosis, emu
def: "Gangliosidosis that occurs in emu." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000401-8790 {source="MONDO:equivalentTo"}
is_a: MONDO:1010167 {source="OMIA:000401", source="https://orcid.org/0000-0002-5002-8648"} ! gangliosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8790 ! Dromaius novaehollandiae
intersection_of: MONDO:0700097 MONDO:0017719 ! cross-species analog gangliosidosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:8790 {source="OMIA:000401-8790", source="https://orcid.org/0000-0002-5002-8648"} ! Dromaius novaehollandiae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010840
name: gangliosidosis, dog
def: "Gangliosidosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000401-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010167 {source="OMIA:000401", source="https://orcid.org/0000-0002-5002-8648"} ! gangliosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0017719 ! cross-species analog gangliosidosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000401-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010841
name: gangliosidosis, domestic cat
def: "Gangliosidosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000401-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010167 {source="OMIA:000401", source="https://orcid.org/0000-0002-5002-8648"} ! gangliosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0017719 ! cross-species analog gangliosidosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000401-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010842
name: gangliosidosis, pig
def: "Gangliosidosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000401-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010167 {source="OMIA:000401", source="https://orcid.org/0000-0002-5002-8648"} ! gangliosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0017719 ! cross-species analog gangliosidosis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000401-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010843
name: gangliosidosis, cattle
def: "Gangliosidosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000401-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010167 {source="OMIA:000401", source="https://orcid.org/0000-0002-5002-8648"} ! gangliosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0017719 ! cross-species analog gangliosidosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000401-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010854
name: Krabbe disease, Rhesus monkey
def: "Krabbe disease that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000578-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1010170 {source="OMIA:000578", source="https://orcid.org/0000-0002-5002-8648"} ! Krabbe disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0009499 ! cross-species analog Krabbe disease
relationship: in_taxon NCBITaxon:9544 {source="OMIA:000578-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010855
name: Krabbe disease, dog
def: "Krabbe disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000578-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010170 {source="OMIA:000578", source="https://orcid.org/0000-0002-5002-8648"} ! Krabbe disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009499 ! cross-species analog Krabbe disease
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000578-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010856
name: Krabbe disease, domestic cat
def: "Krabbe disease that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000578-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010170 {source="OMIA:000578", source="https://orcid.org/0000-0002-5002-8648"} ! Krabbe disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009499 ! cross-species analog Krabbe disease
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000578-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010857
name: Krabbe disease, sheep
def: "Krabbe disease that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000578-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010170 {source="OMIA:000578", source="https://orcid.org/0000-0002-5002-8648"} ! Krabbe disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0009499 ! cross-species analog Krabbe disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000578-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010858
name: lysosomal storage disease, emu
def: "Lysosomal storage disease that occurs in emu." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000616-8790 {source="MONDO:equivalentTo"}
is_a: MONDO:1010171 {source="OMIA:000616", source="https://orcid.org/0000-0002-5002-8648"} ! lysosomal storage disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8790 ! Dromaius novaehollandiae
intersection_of: MONDO:0700097 MONDO:0002561 ! cross-species analog lysosomal storage disease
relationship: in_taxon NCBITaxon:8790 {source="OMIA:000616-8790", source="https://orcid.org/0000-0002-5002-8648"} ! Dromaius novaehollandiae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010859
name: lysosomal storage disease, kangaroo
def: "Lysosomal storage disease that occurs in kangaroo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000616-9322 {source="MONDO:equivalentTo"}
is_a: MONDO:1010171 {source="OMIA:000616", source="https://orcid.org/0000-0002-5002-8648"} ! lysosomal storage disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9322 ! Macropus sp.
intersection_of: MONDO:0700097 MONDO:0002561 ! cross-species analog lysosomal storage disease
relationship: in_taxon NCBITaxon:9322 {source="OMIA:000616-9322", source="https://orcid.org/0000-0002-5002-8648"} ! Macropus sp.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010860
name: lysosomal storage disease, dog
def: "Lysosomal storage disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000616-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010171 {source="OMIA:000616", source="https://orcid.org/0000-0002-5002-8648"} ! lysosomal storage disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002561 ! cross-species analog lysosomal storage disease
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000616-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010861
name: lysosomal storage disease, domestic cat
def: "Lysosomal storage disease that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000616-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010171 {source="OMIA:000616", source="https://orcid.org/0000-0002-5002-8648"} ! lysosomal storage disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0002561 ! cross-species analog lysosomal storage disease
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000616-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010862
name: lysosomal storage disease, cattle
def: "Lysosomal storage disease that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000616-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010171 {source="OMIA:000616", source="https://orcid.org/0000-0002-5002-8648"} ! lysosomal storage disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0002561 ! cross-species analog lysosomal storage disease
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000616-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010863
name: alpha-mannosidosis, domestic guinea pig
def: "Alpha-mannosidosis that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000625-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1010172 {source="OMIA:000625", source="https://orcid.org/0000-0002-5002-8648"} ! alpha-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0009561 ! cross-species analog alpha-mannosidosis
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000625-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010864
name: alpha-mannosidosis, domestic cat
def: "Alpha-mannosidosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000625-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010172 {source="OMIA:000625", source="https://orcid.org/0000-0002-5002-8648"} ! alpha-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009561 ! cross-species analog alpha-mannosidosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000625-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010865
name: alpha-mannosidosis, cattle
def: "Alpha-mannosidosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000625-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010172 {source="OMIA:000625", source="https://orcid.org/0000-0002-5002-8648"} ! alpha-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0009561 ! cross-species analog alpha-mannosidosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000625-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010866
name: alpha-mannosidosis, goat
def: "Alpha-mannosidosis that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000625-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010172 {source="OMIA:000625", source="https://orcid.org/0000-0002-5002-8648"} ! alpha-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0009561 ! cross-species analog alpha-mannosidosis
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000625-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010867
name: alpha-mannosidosis, sheep
def: "Alpha-mannosidosis that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000625-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010172 {source="OMIA:000625", source="https://orcid.org/0000-0002-5002-8648"} ! alpha-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0009561 ! cross-species analog alpha-mannosidosis
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000625-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010905
name: deficiency of uridine monophosphate synthase, cattle
def: "Deficiency of uridine monophosphate synthase that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000262-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010191 {source="OMIA:000262", source="https://orcid.org/0000-0002-5002-8648"} ! deficiency of uridine monophosphate synthase, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0009797 ! cross-species analog orotic aciduria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000262-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010906
name: central core myopathy, dog
def: "Central core myopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000172-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010192 {source="OMIA:000172", source="https://orcid.org/0000-0002-5002-8648"} ! central core myopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0007294 ! cross-species analog central core myopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000172-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010907
name: central core myopathy, horse
def: "Central core myopathy that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000172-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010192 {source="OMIA:000172", source="https://orcid.org/0000-0002-5002-8648"} ! central core myopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0007294 ! cross-species analog central core myopathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000172-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010908
name: muscular dystrophy, American mink
def: "Muscular dystrophy that occurs in American mink." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000679-452646 {source="MONDO:equivalentTo"}
is_a: MONDO:0024965 {source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:452646 ! Neogale vison
intersection_of: MONDO:0700097 MONDO:0020121 ! cross-species analog muscular dystrophy
relationship: in_taxon NCBITaxon:452646 {source="OMIA:000679-452646", source="https://orcid.org/0000-0002-5002-8648"} ! Neogale vison
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010909
name: muscular dystrophy, chicken
def: "Muscular dystrophy that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000679-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:0024965 {source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0020121 ! cross-species analog muscular dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000679-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010910
name: muscular dystrophy, turkey
def: "Muscular dystrophy that occurs in turkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000679-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:0024965 {source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9103 ! Meleagris gallopavo
intersection_of: MONDO:0700097 MONDO:0020121 ! cross-species analog muscular dystrophy
relationship: in_taxon NCBITaxon:9103 {source="OMIA:000679-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010911
name: muscular dystrophy, dog
def: "Muscular dystrophy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000679-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:0024965 {source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0020121 ! cross-species analog muscular dystrophy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000679-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010912
name: muscular dystrophy, domestic cat
def: "Muscular dystrophy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000679-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:0024965 {source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0020121 ! cross-species analog muscular dystrophy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000679-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010913
name: muscular dystrophy, sheep
def: "Muscular dystrophy that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000679-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:0024965 {source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0020121 ! cross-species analog muscular dystrophy
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000679-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010915
name: myopathy, golden hamster
def: "Myopathy that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000693-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1010195 {source="OMIA:000693", source="https://orcid.org/0000-0002-5002-8648"} ! myopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0005336 ! cross-species analog myopathy
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000693-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010916
name: myopathy, chicken
def: "Myopathy that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000693-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010195 {source="OMIA:000693", source="https://orcid.org/0000-0002-5002-8648"} ! myopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0005336 ! cross-species analog myopathy
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000693-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010917
name: myopathy, dog
def: "Myopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000693-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010195 {source="OMIA:000693", source="https://orcid.org/0000-0002-5002-8648"} ! myopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005336 ! cross-species analog myopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000693-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010918
name: congenital myopathy, dog
def: "Congenital myopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000694-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010196 {source="OMIA:000694", source="https://orcid.org/0000-0002-5002-8648"} ! congenital myopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019952 ! cross-species analog congenital myopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000694-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010919
name: congenital myopathy, goat
def: "Congenital myopathy that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000694-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010196 {source="OMIA:000694", source="https://orcid.org/0000-0002-5002-8648"} ! congenital myopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0019952 ! cross-species analog congenital myopathy
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000694-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010920
name: myositis ossificans, pig
def: "Myositis ossificans that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000697-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010197 {source="OMIA:000697", source="https://orcid.org/0000-0002-5002-8648"} ! myositis ossificans, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0003964 ! cross-species analog myositis ossificans
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000697-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010921
name: myositis ossificans, cattle
def: "Myositis ossificans that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000697-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010197 {source="OMIA:000697", source="https://orcid.org/0000-0002-5002-8648"} ! myositis ossificans, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0003964 ! cross-species analog myositis ossificans
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000697-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010922
name: myotonic dystrophy, Japanese quail
def: "Myotonic dystrophy that occurs in Japanese quail." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000699-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1010198 {source="OMIA:000699", source="https://orcid.org/0000-0002-5002-8648"} ! myotonic dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:93934 ! Coturnix japonica
intersection_of: MONDO:0700097 MONDO:0016107 ! cross-species analog myotonic dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:93934 {source="OMIA:000699-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010923
name: muscular dystrophy, Duchenne type, dog
def: "Muscular dystrophy, Duchenne type that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001081-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010199 {source="OMIA:001081", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, Duchenne type, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010679 ! cross-species analog Duchenne muscular dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001081-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010924
name: muscular dystrophy, Duchenne type, domestic cat
def: "Muscular dystrophy, Duchenne type that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001081-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010199 {source="OMIA:001081", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, Duchenne type, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0010679 ! cross-species analog Duchenne muscular dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001081-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010925
name: muscular dystrophy, Duchenne type, pig
def: "Muscular dystrophy, Duchenne type that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001081-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010199 {source="OMIA:001081", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, Duchenne type, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0010679 ! cross-species analog Duchenne muscular dystrophy
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001081-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010927
name: congenital pseudomyotonia, dog
def: "Congenital pseudomyotonia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001464-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010201 {source="OMIA:001464", source="https://orcid.org/0000-0002-5002-8648"} ! congenital pseudomyotonia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010977 ! cross-species analog Brody myopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001464-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010928
name: congenital pseudomyotonia, cattle
def: "Congenital pseudomyotonia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001464-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010201 {source="OMIA:001464", source="https://orcid.org/0000-0002-5002-8648"} ! congenital pseudomyotonia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0010977 ! cross-species analog Brody myopathy
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001464-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010929
name: myotubular myopathy 1, dog
def: "Myotubular myopathy 1 that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001508-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010202 {source="OMIA:001508", source="https://orcid.org/0000-0002-5002-8648"} ! myotubular myopathy 1, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010683 ! cross-species analog X-linked myotubular myopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001508-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010930
name: myotubular myopathy 1, domestic cat
def: "Myotubular myopathy 1 that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001508-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010202 {source="OMIA:001508", source="https://orcid.org/0000-0002-5002-8648"} ! myotubular myopathy 1, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0010683 ! cross-species analog X-linked myotubular myopathy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001508-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010931
name: polymyositis, dog
def: "Polymyositis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001874-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010203 {source="OMIA:001874", source="https://orcid.org/0000-0002-5002-8648"} ! polymyositis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019127 ! cross-species analog polymyositis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001874-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010936
name: myofibrillar myopathy, horse
def: "Myofibrillar myopathy that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002330-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010208 {source="OMIA:002330", source="https://orcid.org/0000-0002-5002-8648"} ! myofibrillar myopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0018943 ! cross-species analog myofibrillar myopathy
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002330-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010937
name: lymphosarcoma, pig
def: "Lymphosarcoma that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000615-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010209 {source="OMIA:000615", source="https://orcid.org/0000-0002-5002-8648"} ! lymphosarcoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0004638 ! cross-species analog lymphosarcoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000615-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010938
name: lymphosarcoma, rabbit
def: "Lymphosarcoma that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000615-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010209 {source="OMIA:000615", source="https://orcid.org/0000-0002-5002-8648"} ! lymphosarcoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0004638 ! cross-species analog lymphosarcoma
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000615-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010939
name: malignant histiocytosis, dog
def: "Malignant histiocytosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000620-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010210 {source="OMIA:000620", source="https://orcid.org/0000-0002-5002-8648"} ! malignant histiocytosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004612 ! cross-species analog malignant histiocytosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000620-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010940
name: malignant histiocytosis, domestic cat
def: "Malignant histiocytosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000620-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010210 {source="OMIA:000620", source="https://orcid.org/0000-0002-5002-8648"} ! malignant histiocytosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004612 ! cross-species analog malignant histiocytosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000620-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010941
name: malignant histiocytosis, pig
def: "Malignant histiocytosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000620-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010210 {source="OMIA:000620", source="https://orcid.org/0000-0002-5002-8648"} ! malignant histiocytosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0004612 ! cross-species analog malignant histiocytosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000620-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010942
name: malignant histiocytosis, cattle
def: "Malignant histiocytosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000620-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010210 {source="OMIA:000620", source="https://orcid.org/0000-0002-5002-8648"} ! malignant histiocytosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0004612 ! cross-species analog malignant histiocytosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000620-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010943
name: mycosis fungoides, dog
def: "Mycosis fungoides that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001109-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010211 {source="OMIA:001109", source="https://orcid.org/0000-0002-5002-8648"} ! mycosis fungoides, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009691 ! cross-species analog mycosis fungoides
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001109-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010944
name: mycosis fungoides, domestic cat
def: "Mycosis fungoides that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001109-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010211 {source="OMIA:001109", source="https://orcid.org/0000-0002-5002-8648"} ! mycosis fungoides, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009691 ! cross-species analog mycosis fungoides
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001109-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010945
name: mycosis fungoides, horse
def: "Mycosis fungoides that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001109-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010211 {source="OMIA:001109", source="https://orcid.org/0000-0002-5002-8648"} ! mycosis fungoides, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0009691 ! cross-species analog mycosis fungoides
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001109-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010947
name: chronic monocytic leukemia, dog
def: "Chronic monocytic leukemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001573-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010213 {source="OMIA:001573", source="https://orcid.org/0000-0002-5002-8648"} ! chronic monocytic leukemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004614 ! cross-species analog chronic monocytic leukemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001573-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010948
name: non-hodgkin lymphoma, dog
def: "Non-hodgkin lymphoma that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001708-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010214 {source="OMIA:001708", source="https://orcid.org/0000-0002-5002-8648"} ! non-hodgkin lymphoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018908 ! cross-species analog non-Hodgkin lymphoma
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001708-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010949
name: non-hodgkin lymphoma, domestic cat
def: "Non-hodgkin lymphoma that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001708-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010214 {source="OMIA:001708", source="https://orcid.org/0000-0002-5002-8648"} ! non-hodgkin lymphoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018908 ! cross-species analog non-Hodgkin lymphoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001708-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010950
name: familial adenomatous polyposis, dog
def: "Familial adenomatous polyposis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001916-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010215 {source="OMIA:001916", source="https://orcid.org/0000-0002-5002-8648"} ! familial adenomatous polyposis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0021056 ! cross-species analog familial adenomatous polyposis 1
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001916-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010951
name: familial adenomatous polyposis, pig
def: "Familial adenomatous polyposis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001916-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010215 {source="OMIA:001916", source="https://orcid.org/0000-0002-5002-8648"} ! familial adenomatous polyposis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0021056 ! cross-species analog familial adenomatous polyposis 1
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001916-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010952
name: embryonal rhabdomyosarcoma, cattle
def: "Embryonal rhabdomyosarcoma that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001921-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010216 {source="OMIA:001921", source="https://orcid.org/0000-0002-5002-8648"} ! embryonal rhabdomyosarcoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0009993 ! cross-species analog embryonal rhabdomyosarcoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001921-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010953
name: schwannomatosis, cattle
def: "Schwannomatosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001963-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010217 {source="OMIA:001963", source="https://orcid.org/0000-0002-5002-8648"} ! schwannomatosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0008075 ! cross-species analog schwannomatosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001963-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010958
name: ameloblastoma, dog
def: "Ameloblastoma that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002171-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010220 {source="OMIA:002171", source="https://orcid.org/0000-0002-5002-8648"} ! ameloblastoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0017795 ! cross-species analog ameloblastoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002171-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010960
name: chronic myelomonocytic leukemia, dog
def: "Chronic myelomonocytic leukemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002299-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010222 {source="OMIA:002299", source="https://orcid.org/0000-0002-5002-8648"} ! chronic myelomonocytic leukemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0020311 ! cross-species analog chronic myelomonocytic leukemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002299-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010961
name: prostate cancer, dog
def: "Prostate cancer that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002335-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010223 {source="OMIA:002335", source="https://orcid.org/0000-0002-5002-8648"} ! prostate cancer, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008315 ! cross-species analog prostate cancer
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002335-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010962
name: benign prostatic hyperplasia, dog
def: "Benign prostatic hyperplasia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002355-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010224 {source="OMIA:002355", source="https://orcid.org/0000-0002-5002-8648"} ! benign prostatic hyperplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010811 ! cross-species analog benign prostatic hyperplasia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002355-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010963
name: cystic hygroma, pig
def: "Cystic hygroma that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002369-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010225 {source="OMIA:002369", source="https://orcid.org/0000-0002-5002-8648"} ! cystic hygroma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0009761 ! cross-species analog cystic hygroma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002369-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010964
name: lymphangiosarcoma, dog
def: "Lymphangiosarcoma that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002476-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010226 {source="OMIA:002476", source="https://orcid.org/0000-0002-5002-8648"} ! lymphangiosarcoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0006282 ! cross-species analog lymphangiosarcoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002476-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010965
name: cauda equina syndrome, dog
def: "Cauda equina syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000170-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010227 {source="OMIA:000170", source="https://orcid.org/0000-0002-5002-8648"} ! cauda equina syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005693 ! cross-species analog cauda equina syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000170-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010966
name: Dandy-Walker syndrome, domestic cat
def: "Dandy-Walker syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000258-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010228 {source="OMIA:000258", source="https://orcid.org/0000-0002-5002-8648"} ! Dandy-Walker syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009072 ! cross-species analog Dandy-Walker syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000258-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010967
name: Dandy-Walker syndrome, sheep
def: "Dandy-Walker syndrome that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000258-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010228 {source="OMIA:000258", source="https://orcid.org/0000-0002-5002-8648"} ! Dandy-Walker syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0009072 ! cross-species analog Dandy-Walker syndrome
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000258-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010968
name: dysautonomia, dog
def: "Dysautonomia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000312-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010229 {source="OMIA:000312", source="https://orcid.org/0000-0002-5002-8648"} ! dysautonomia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0044872 ! cross-species analog dysautonomia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000312-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010969
name: dysautonomia, domestic cat
def: "Dysautonomia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000312-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010229 {source="OMIA:000312", source="https://orcid.org/0000-0002-5002-8648"} ! dysautonomia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0044872 ! cross-species analog dysautonomia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000312-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010970
name: dysautonomia, horse
def: "Dysautonomia that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000312-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010229 {source="OMIA:000312", source="https://orcid.org/0000-0002-5002-8648"} ! dysautonomia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0044872 ! cross-species analog dysautonomia
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000312-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010971
name: dysautonomia, llama
def: "Dysautonomia that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000312-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1010229 {source="OMIA:000312", source="https://orcid.org/0000-0002-5002-8648"} ! dysautonomia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0044872 ! cross-species analog dysautonomia
relationship: in_taxon NCBITaxon:9844 {source="OMIA:000312-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010972
name: dysautonomia, rabbit
def: "Dysautonomia that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000312-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010229 {source="OMIA:000312", source="https://orcid.org/0000-0002-5002-8648"} ! dysautonomia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0044872 ! cross-species analog dysautonomia
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000312-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010973
name: hepatic encephalopathy, dog
def: "Hepatic encephalopathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000453-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010230 {source="OMIA:000453", source="https://orcid.org/0000-0002-5002-8648"} ! hepatic encephalopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001711 ! cross-species analog hepatic encephalopathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000453-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010974
name: hepatic encephalopathy, domestic cat
def: "Hepatic encephalopathy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000453-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010230 {source="OMIA:000453", source="https://orcid.org/0000-0002-5002-8648"} ! hepatic encephalopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001711 ! cross-species analog hepatic encephalopathy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000453-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010975
name: hepatic encephalopathy, sheep
def: "Hepatic encephalopathy that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000453-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010230 {source="OMIA:000453", source="https://orcid.org/0000-0002-5002-8648"} ! hepatic encephalopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0001711 ! cross-species analog hepatic encephalopathy
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000453-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010976
name: Huntington disease, Rhesus monkey
def: "Huntington disease that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000485-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1010231 {source="OMIA:000485", source="https://orcid.org/0000-0002-5002-8648"} ! Huntington disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0007739 ! cross-species analog Huntington disease
relationship: in_taxon NCBITaxon:9544 {source="OMIA:000485-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010977
name: Huntington disease, pig
def: "Huntington disease that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000485-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010231 {source="OMIA:000485", source="https://orcid.org/0000-0002-5002-8648"} ! Huntington disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0007739 ! cross-species analog Huntington disease
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000485-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010978
name: Huntington disease, sheep
def: "Huntington disease that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000485-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010231 {source="OMIA:000485", source="https://orcid.org/0000-0002-5002-8648"} ! Huntington disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0007739 ! cross-species analog Huntington disease
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000485-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010979
name: hydranencephaly, dog
def: "Hydranencephaly that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000486-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010232 {source="OMIA:000486", source="https://orcid.org/0000-0002-5002-8648"} ! hydranencephaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0016344 ! cross-species analog hydranencephaly
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000486-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010980
name: hydranencephaly, cattle
def: "Hydranencephaly that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000486-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010232 {source="OMIA:000486", source="https://orcid.org/0000-0002-5002-8648"} ! hydranencephaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0016344 ! cross-species analog hydranencephaly
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000486-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010981
name: hydranencephaly, sheep
def: "Hydranencephaly that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000486-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010232 {source="OMIA:000486", source="https://orcid.org/0000-0002-5002-8648"} ! hydranencephaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0016344 ! cross-species analog hydranencephaly
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000486-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010982
name: hydrocephalus, golden hamster
def: "Hydrocephalus that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000487-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010983
name: hydrocephalus, yellow-crowned parrot
def: "Hydrocephalus that occurs in yellow-crowned parrot." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-151761 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:151761 ! Amazona ochrocephala
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:151761 {source="OMIA:000487-151761", source="https://orcid.org/0000-0002-5002-8648"} ! Amazona ochrocephala
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010984
name: hydrocephalus, dog
def: "Hydrocephalus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000487-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010985
name: hydrocephalus, domestic cat
def: "Hydrocephalus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000487-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010986
name: hydrocephalus, tiger
def: "Hydrocephalus that occurs in tiger." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9694 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9694 ! Panthera tigris
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9694 {source="OMIA:000487-9694", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera tigris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010987
name: hydrocephalus, puma
def: "Hydrocephalus that occurs in puma." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9696 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9696 ! Puma concolor
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9696 {source="OMIA:000487-9696", source="https://orcid.org/0000-0002-5002-8648"} ! Puma concolor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010988
name: hydrocephalus, horse
def: "Hydrocephalus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000487-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010989
name: hydrocephalus, pig
def: "Hydrocephalus that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000487-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010990
name: hydrocephalus, llama
def: "Hydrocephalus that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9844 {source="OMIA:000487-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010991
name: hydrocephalus, cattle
def: "Hydrocephalus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000487-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010992
name: hydrocephalus, sheep
def: "Hydrocephalus that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000487-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010993
name: hydrocephalus, rabbit
def: "Hydrocephalus that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000487-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010233 {source="OMIA:000487", source="https://orcid.org/0000-0002-5002-8648"} ! hydrocephalus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0001150 ! cross-species analog hydrocephalus
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000487-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010994
name: olivopontocerebellar atrophy, domestic cat
def: "Olivopontocerebellar atrophy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000740-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010234 {source="OMIA:000740", source="https://orcid.org/0000-0002-5002-8648"} ! olivopontocerebellar atrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0002017 ! cross-species analog olivopontocerebellar atrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000740-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010995
name: spinal muscular atrophy, dog
def: "Spinal muscular atrophy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000939-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010235 {source="OMIA:000939", source="https://orcid.org/0000-0002-5002-8648"} ! spinal muscular atrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001516 ! cross-species analog spinal muscular atrophy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000939-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010996
name: spinal muscular atrophy, domestic cat
def: "Spinal muscular atrophy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000939-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010235 {source="OMIA:000939", source="https://orcid.org/0000-0002-5002-8648"} ! spinal muscular atrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001516 ! cross-species analog spinal muscular atrophy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000939-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010997
name: spinal muscular atrophy, cattle
def: "Spinal muscular atrophy that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000939-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010235 {source="OMIA:000939", source="https://orcid.org/0000-0002-5002-8648"} ! spinal muscular atrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0001516 ! cross-species analog spinal muscular atrophy
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000939-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010998
name: syringomyelia, dog
def: "Syringomyelia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000965-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010236 {source="OMIA:000965", source="https://orcid.org/0000-0002-5002-8648"} ! syringomyelia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0017987 ! cross-species analog syringomyelia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000965-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1010999
name: syringomyelia, domestic cat
def: "Syringomyelia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000965-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010236 {source="OMIA:000965", source="https://orcid.org/0000-0002-5002-8648"} ! syringomyelia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0017987 ! cross-species analog syringomyelia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000965-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011000
name: syringomyelia, horse
def: "Syringomyelia that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000965-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010236 {source="OMIA:000965", source="https://orcid.org/0000-0002-5002-8648"} ! syringomyelia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0017987 ! cross-species analog syringomyelia
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000965-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011001
name: syringomyelia, cattle
def: "Syringomyelia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000965-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010236 {source="OMIA:000965", source="https://orcid.org/0000-0002-5002-8648"} ! syringomyelia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0017987 ! cross-species analog syringomyelia
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000965-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011002
name: syringomyelia, rabbit
def: "Syringomyelia that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000965-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010236 {source="OMIA:000965", source="https://orcid.org/0000-0002-5002-8648"} ! syringomyelia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0017987 ! cross-species analog syringomyelia
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000965-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011003
name: polymicrogyria, cattle
def: "Polymicrogyria that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001100-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010237 {source="OMIA:001100", source="https://orcid.org/0000-0002-5002-8648"} ! polymicrogyria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0000087 ! cross-species analog polymicrogyria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001100-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011004
name: leukodystrophy, American mink
def: "Leukodystrophy that occurs in American mink." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001130-452646 {source="MONDO:equivalentTo"}
is_a: MONDO:1010238 {source="OMIA:001130", source="https://orcid.org/0000-0002-5002-8648"} ! leukodystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:452646 ! Neogale vison
intersection_of: MONDO:0700097 MONDO:0019046 ! cross-species analog leukodystrophy
relationship: in_taxon NCBITaxon:452646 {source="OMIA:001130-452646", source="https://orcid.org/0000-0002-5002-8648"} ! Neogale vison
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011005
name: leukodystrophy, dog
def: "Leukodystrophy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001130-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010238 {source="OMIA:001130", source="https://orcid.org/0000-0002-5002-8648"} ! leukodystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019046 ! cross-species analog leukodystrophy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001130-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011006
name: leukodystrophy, sheep
def: "Leukodystrophy that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001130-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010238 {source="OMIA:001130", source="https://orcid.org/0000-0002-5002-8648"} ! leukodystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0019046 ! cross-species analog leukodystrophy
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001130-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011007
name: peripheral neuropathy, dog
def: "Peripheral neuropathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001150-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010239 {source="OMIA:001150", source="https://orcid.org/0000-0002-5002-8648"} ! peripheral neuropathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005244 ! cross-species analog peripheral neuropathy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001150-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011008
name: peripheral neuropathy, pig
def: "Peripheral neuropathy that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001150-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010239 {source="OMIA:001150", source="https://orcid.org/0000-0002-5002-8648"} ! peripheral neuropathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005244 ! cross-species analog peripheral neuropathy
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001150-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011009
name: Horner syndrome, dog
def: "Horner syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001197-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010240 {source="OMIA:001197", source="https://orcid.org/0000-0002-5002-8648"} ! Horner syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001294 ! cross-species analog Horner syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001197-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011010
name: Horner syndrome, domestic cat
def: "Horner syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001197-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010240 {source="OMIA:001197", source="https://orcid.org/0000-0002-5002-8648"} ! Horner syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001294 ! cross-species analog Horner syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001197-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011011
name: Horner syndrome, horse
def: "Horner syndrome that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001197-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010240 {source="OMIA:001197", source="https://orcid.org/0000-0002-5002-8648"} ! Horner syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001294 ! cross-species analog Horner syndrome
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001197-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011012
name: Horner syndrome, cattle
def: "Horner syndrome that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001197-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010240 {source="OMIA:001197", source="https://orcid.org/0000-0002-5002-8648"} ! Horner syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0001294 ! cross-species analog Horner syndrome
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001197-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011013
name: giant axonal neuropathy, dog
def: "Giant axonal neuropathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001207-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010241 {source="OMIA:001207", source="https://orcid.org/0000-0002-5002-8648"} ! giant axonal neuropathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0000128 ! cross-species analog giant axonal neuropathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001207-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011014
name: Alexander disease, dog
def: "Alexander disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001208-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010242 {source="OMIA:001208", source="https://orcid.org/0000-0002-5002-8648"} ! Alexander disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008752 ! cross-species analog Alexander disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001208-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011015
name: cerebellar degeneration, chicken
def: "Cerebellar degeneration that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001221-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010243 {source="OMIA:001221", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar degeneration, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0022687 ! cross-species analog cerebellar degeneration
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001221-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011016
name: cerebellar degeneration, dog
def: "Cerebellar degeneration that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001221-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010243 {source="OMIA:001221", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar degeneration, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0022687 ! cross-species analog cerebellar degeneration
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001221-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011017
name: cerebellar degeneration, domestic cat
def: "Cerebellar degeneration that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001221-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010243 {source="OMIA:001221", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar degeneration, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0022687 ! cross-species analog cerebellar degeneration
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001221-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011018
name: L-2-hydroxyglutaricacidemia, dog
def: "L-2-hydroxyglutaricacidemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001371-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010244 {source="OMIA:001371", source="https://orcid.org/0000-0002-5002-8648"} ! L-2-hydroxyglutaricacidemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009370 ! cross-species analog L-2-hydroxyglutaric aciduria
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001371-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011019
name: L-2-hydroxyglutaricacidemia, domestic cat
def: "L-2-hydroxyglutaricacidemia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001371-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010244 {source="OMIA:001371", source="https://orcid.org/0000-0002-5002-8648"} ! L-2-hydroxyglutaricacidemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009370 ! cross-species analog L-2-hydroxyglutaric aciduria
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001371-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011020
name: hyperekplexia, dog
def: "Hyperekplexia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001594-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010245 {source="OMIA:001594", source="https://orcid.org/0000-0002-5002-8648"} ! hyperekplexia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0013827 ! cross-species analog hyperekplexia 3
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001594-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011022
name: lissencephaly and cerebellar hypoplasia, dog
def: "Lissencephaly and cerebellar hypoplasia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001867-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010247 {source="OMIA:001867", source="https://orcid.org/0000-0002-5002-8648"} ! lissencephaly and cerebellar hypoplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009760 ! cross-species analog Norman-Roberts syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001867-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011026
name: lissencephaly and cerebellar hypoplasia, sheep
def: "Lissencephaly and cerebellar hypoplasia that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001867-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010247 {source="OMIA:001867", source="https://orcid.org/0000-0002-5002-8648"} ! lissencephaly and cerebellar hypoplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0009760 ! cross-species analog Norman-Roberts syndrome
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001867-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011028
name: ataxia telangiectasia, pig
def: "Ataxia telangiectasia that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002044-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010249 {source="OMIA:002044", source="https://orcid.org/0000-0002-5002-8648"} ! ataxia telangiectasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0008840 ! cross-species analog ataxia telangiectasia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002044-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011031
name: succinic semialdehyde dehydrogenase deficiency, dog
def: "Succinic semialdehyde dehydrogenase deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002250-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010252 {source="OMIA:002250", source="https://orcid.org/0000-0002-5002-8648"} ! succinic semialdehyde dehydrogenase deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010083 ! cross-species analog succinic semialdehyde dehydrogenase deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002250-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011043
name: glomerulonephritis, dog
def: "Glomerulonephritis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000413-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010258 {source="OMIA:000413", source="https://orcid.org/0000-0002-5002-8648"} ! glomerulonephritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002462 ! cross-species analog glomerulonephritis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000413-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011044
name: glomerulonephritis, domestic cat
def: "Glomerulonephritis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000413-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010258 {source="OMIA:000413", source="https://orcid.org/0000-0002-5002-8648"} ! glomerulonephritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0002462 ! cross-species analog glomerulonephritis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000413-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011045
name: nephritis, dog
def: "Nephritis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000708-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010259 {source="OMIA:000708", source="https://orcid.org/0000-0002-5002-8648"} ! nephritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001166 ! cross-species analog nephritis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000708-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011046
name: nephrolithiasis, domestic cat
def: "Nephrolithiasis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000709-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010260 {source="OMIA:000709", source="https://orcid.org/0000-0002-5002-8648"} ! nephrolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008171 ! cross-species analog nephrolithiasis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000709-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011047
name: nephrotic syndrome, dog
def: "Nephrotic syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000712-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010261 {source="OMIA:000712", source="https://orcid.org/0000-0002-5002-8648"} ! nephrotic syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005377 ! cross-species analog nephrotic syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000712-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011048
name: nephrotic syndrome, domestic cat
def: "Nephrotic syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000712-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010261 {source="OMIA:000712", source="https://orcid.org/0000-0002-5002-8648"} ! nephrotic syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005377 ! cross-species analog nephrotic syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000712-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011049
name: polycystic kidney disease, degu
def: "Polycystic kidney disease that occurs in degu." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-10160 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10160 ! Octodon degus
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:10160 {source="OMIA:000807-10160", source="https://orcid.org/0000-0002-5002-8648"} ! Octodon degus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011050
name: polycystic kidney disease, markhor
def: "Polycystic kidney disease that occurs in markhor." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-48167 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:48167 ! Capra falconeri
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:48167 {source="OMIA:000807-48167", source="https://orcid.org/0000-0002-5002-8648"} ! Capra falconeri
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011051
name: polycystic kidney disease, springbok
def: "Polycystic kidney disease that occurs in springbok." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-59523 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:59523 ! Antidorcas marsupialis
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:59523 {source="OMIA:000807-59523", source="https://orcid.org/0000-0002-5002-8648"} ! Antidorcas marsupialis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011052
name: polycystic kidney disease, crab-eating macaque
def: "Polycystic kidney disease that occurs in crab-eating macaque." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9541 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9541 ! Macaca fascicularis
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9541 {source="OMIA:000807-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca fascicularis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011053
name: polycystic kidney disease, dog
def: "Polycystic kidney disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000807-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011054
name: polycystic kidney disease, domestic cat
def: "Polycystic kidney disease that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000807-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011055
name: polycystic kidney disease, lion
def: "Polycystic kidney disease that occurs in lion." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9689 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9689 ! Panthera leo
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9689 {source="OMIA:000807-9689", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera leo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011056
name: polycystic kidney disease, horse
def: "Polycystic kidney disease that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000807-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011057
name: polycystic kidney disease, pig
def: "Polycystic kidney disease that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000807-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011058
name: polycystic kidney disease, Western roe deer
def: "Polycystic kidney disease that occurs in Western roe deer." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9858 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9858 ! Capreolus capreolus
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9858 {source="OMIA:000807-9858", source="https://orcid.org/0000-0002-5002-8648"} ! Capreolus capreolus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011060
name: polycystic kidney disease, sheep
def: "Polycystic kidney disease that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000807-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011061
name: polycystic kidney disease, rabbit
def: "Polycystic kidney disease that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000807-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010262 {source="OMIA:000807", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic kidney disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0020642 ! cross-species analog polycystic kidney disease
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000807-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011063
name: renal hypoplasia, chicken
def: "Renal hypoplasia that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000854-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010264 {source="OMIA:000854", source="https://orcid.org/0000-0002-5002-8648"} ! renal hypoplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0019637 ! cross-species analog renal hypoplasia
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000854-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011064
name: renal hypoplasia, unilateral, pig
def: "Renal hypoplasia, unilateral that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000855-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010265 {source="OMIA:000855", source="https://orcid.org/0000-0002-5002-8648"} ! renal hypoplasia, unilateral, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0019979 ! cross-species analog renal hypoplasia, unilateral
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000855-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011065
name: renal hypoplasia, bilateral, dog
def: "Renal hypoplasia, bilateral that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000858-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010266 {source="OMIA:000858", source="https://orcid.org/0000-0002-5002-8648"} ! renal hypoplasia, bilateral, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019980 ! cross-species analog renal hypoplasia, bilateral
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000858-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011066
name: renal hypoplasia, bilateral, pig
def: "Renal hypoplasia, bilateral that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000858-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010266 {source="OMIA:000858", source="https://orcid.org/0000-0002-5002-8648"} ! renal hypoplasia, bilateral, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0019980 ! cross-species analog renal hypoplasia, bilateral
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000858-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011067
name: urolithiasis, domestic guinea pig
def: "Urolithiasis that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:10141 {source="OMIA:001033-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011068
name: urolithiasis, Silvery lutung
def: "Urolithiasis that occurs in Silvery lutung." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-122765 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:122765 ! Trachypithecus cristatus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:122765 {source="OMIA:001033-122765", source="https://orcid.org/0000-0002-5002-8648"} ! Trachypithecus cristatus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011069
name: urolithiasis, Javan langur
def: "Urolithiasis that occurs in Javan langur." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-222416 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:222416 ! Trachypithecus auratus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:222416 {source="OMIA:001033-222416", source="https://orcid.org/0000-0002-5002-8648"} ! Trachypithecus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011070
name: urolithiasis, long-tailed chinchilla
def: "Urolithiasis that occurs in long-tailed chinchilla." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-34839 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:34839 ! Chinchilla lanigera
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:34839 {source="OMIA:001033-34839", source="https://orcid.org/0000-0002-5002-8648"} ! Chinchilla lanigera
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011071
name: urolithiasis, American mink
def: "Urolithiasis that occurs in American mink." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-452646 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:452646 ! Neogale vison
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:452646 {source="OMIA:001033-452646", source="https://orcid.org/0000-0002-5002-8648"} ! Neogale vison
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011072
name: urolithiasis, Red shanked douc langur
def: "Urolithiasis that occurs in Red shanked douc langur." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-54133 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:54133 ! Pygathrix nemaeus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:54133 {source="OMIA:001033-54133", source="https://orcid.org/0000-0002-5002-8648"} ! Pygathrix nemaeus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011073
name: urolithiasis, Francois's langur
def: "Urolithiasis that occurs in Francois's langur." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-54180 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:54180 ! Trachypithecus francoisi
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:54180 {source="OMIA:001033-54180", source="https://orcid.org/0000-0002-5002-8648"} ! Trachypithecus francoisi
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011074
name: urolithiasis, Dusky leaf-monkey
def: "Urolithiasis that occurs in Dusky leaf-monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-54181 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:54181 ! Trachypithecus obscurus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:54181 {source="OMIA:001033-54181", source="https://orcid.org/0000-0002-5002-8648"} ! Trachypithecus obscurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011075
name: urolithiasis, Siberian chipmunk
def: "Urolithiasis that occurs in Siberian chipmunk." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-64680 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:64680 ! Tamias sibiricus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:64680 {source="OMIA:001033-64680", source="https://orcid.org/0000-0002-5002-8648"} ! Tamias sibiricus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011076
name: urolithiasis, kangaroo
def: "Urolithiasis that occurs in kangaroo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9322 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9322 ! Macropus sp.
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9322 {source="OMIA:001033-9322", source="https://orcid.org/0000-0002-5002-8648"} ! Macropus sp.
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011077
name: urolithiasis, Rhesus monkey
def: "Urolithiasis that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9544 {source="OMIA:001033-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011078
name: urolithiasis, dog
def: "Urolithiasis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001033-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011079
name: urolithiasis, domestic ferret
def: "Urolithiasis that occurs in domestic ferret." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9669 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9669 ! Mustela putorius furo
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9669 {source="OMIA:001033-9669", source="https://orcid.org/0000-0002-5002-8648"} ! Mustela putorius furo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011080
name: urolithiasis, domestic cat
def: "Urolithiasis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001033-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011081
name: urolithiasis, horse
def: "Urolithiasis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001033-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011082
name: urolithiasis, pig
def: "Urolithiasis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001033-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011083
name: urolithiasis, llama
def: "Urolithiasis that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9844 {source="OMIA:001033-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011084
name: urolithiasis, cattle
def: "Urolithiasis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001033-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011085
name: urolithiasis, goat
def: "Urolithiasis that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9925 {source="OMIA:001033-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011086
name: urolithiasis, sheep
def: "Urolithiasis that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001033-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010267 {source="OMIA:001033", source="https://orcid.org/0000-0002-5002-8648"} ! urolithiasis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0024647 ! cross-species analog urolithiasis
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001033-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011087
name: renal dysplasia, dog
def: "Renal dysplasia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001135-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010268 {source="OMIA:001135", source="https://orcid.org/0000-0002-5002-8648"} ! renal dysplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019638 ! cross-species analog renal dysplasia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001135-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011088
name: renal dysplasia, domestic cat
def: "Renal dysplasia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001135-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010268 {source="OMIA:001135", source="https://orcid.org/0000-0002-5002-8648"} ! renal dysplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019638 ! cross-species analog renal dysplasia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001135-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011089
name: renal dysplasia, horse
def: "Renal dysplasia that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001135-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010268 {source="OMIA:001135", source="https://orcid.org/0000-0002-5002-8648"} ! renal dysplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0019638 ! cross-species analog renal dysplasia
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001135-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011090
name: renal dysplasia, cattle
def: "Renal dysplasia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001135-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010268 {source="OMIA:001135", source="https://orcid.org/0000-0002-5002-8648"} ! renal dysplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019638 ! cross-species analog renal dysplasia
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001135-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011091
name: hypospadias, dog
def: "Hypospadias that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001187-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010269 {source="OMIA:001187", source="https://orcid.org/0000-0002-5002-8648"} ! hypospadias, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005345 ! cross-species analog hypospadias
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001187-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011092
name: hypospadias, horse
def: "Hypospadias that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001187-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010269 {source="OMIA:001187", source="https://orcid.org/0000-0002-5002-8648"} ! hypospadias, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005345 ! cross-species analog hypospadias
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001187-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011093
name: hypospadias, cattle
def: "Hypospadias that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001187-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010269 {source="OMIA:001187", source="https://orcid.org/0000-0002-5002-8648"} ! hypospadias, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005345 ! cross-species analog hypospadias
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001187-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011094
name: hypospadias, goat
def: "Hypospadias that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001187-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010269 {source="OMIA:001187", source="https://orcid.org/0000-0002-5002-8648"} ! hypospadias, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0005345 ! cross-species analog hypospadias
relationship: in_taxon NCBITaxon:9925 {source="OMIA:001187-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011095
name: hypospadias, sheep
def: "Hypospadias that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001187-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010269 {source="OMIA:001187", source="https://orcid.org/0000-0002-5002-8648"} ! hypospadias, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0005345 ! cross-species analog hypospadias
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001187-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011096
name: alkaptonuria, crab-eating macaque
def: "Alkaptonuria that occurs in crab-eating macaque." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001243-9541 {source="MONDO:equivalentTo"}
is_a: MONDO:1010270 {source="OMIA:001243", source="https://orcid.org/0000-0002-5002-8648"} ! alkaptonuria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9541 ! Macaca fascicularis
intersection_of: MONDO:0700097 MONDO:0008753 ! cross-species analog alkaptonuria
relationship: in_taxon NCBITaxon:9541 {source="OMIA:001243-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca fascicularis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011098
name: alkaptonuria, domestic cat
def: "Alkaptonuria that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001243-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010270 {source="OMIA:001243", source="https://orcid.org/0000-0002-5002-8648"} ! alkaptonuria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008753 ! cross-species analog alkaptonuria
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001243-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011099
name: alkaptonuria, rabbit
def: "Alkaptonuria that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001243-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010270 {source="OMIA:001243", source="https://orcid.org/0000-0002-5002-8648"} ! alkaptonuria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0008753 ! cross-species analog alkaptonuria
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001243-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011102
name: renal agenesis, dog
def: "Renal agenesis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002007-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010272 {source="OMIA:002007", source="https://orcid.org/0000-0002-5002-8648"} ! renal agenesis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018470 ! cross-species analog renal agenesis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002007-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011103
name: renal agenesis, domestic cat
def: "Renal agenesis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002007-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010272 {source="OMIA:002007", source="https://orcid.org/0000-0002-5002-8648"} ! renal agenesis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018470 ! cross-species analog renal agenesis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002007-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011104
name: renal agenesis, rabbit
def: "Renal agenesis that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002007-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010272 {source="OMIA:002007", source="https://orcid.org/0000-0002-5002-8648"} ! renal agenesis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0018470 ! cross-species analog renal agenesis
relationship: in_taxon NCBITaxon:9986 {source="OMIA:002007-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011108
name: cryptorchidism, dog
def: "Cryptorchidism that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000243-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011109
name: cryptorchidism, domestic cat
def: "Cryptorchidism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000243-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011110
name: cryptorchidism, puma
def: "Cryptorchidism that occurs in puma." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9696 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9696 ! Puma concolor
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9696 {source="OMIA:000243-9696", source="https://orcid.org/0000-0002-5002-8648"} ! Puma concolor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011111
name: cryptorchidism, horse
def: "Cryptorchidism that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000243-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011112
name: cryptorchidism, pig
def: "Cryptorchidism that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000243-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011113
name: cryptorchidism, Arabian camel
def: "Cryptorchidism that occurs in Arabian camel." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9838 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9838 ! Camelus dromedarius
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9838 {source="OMIA:000243-9838", source="https://orcid.org/0000-0002-5002-8648"} ! Camelus dromedarius
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011114
name: cryptorchidism, llama
def: "Cryptorchidism that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9844 {source="OMIA:000243-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011115
name: cryptorchidism, cattle
def: "Cryptorchidism that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000243-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011116
name: cryptorchidism, goat
def: "Cryptorchidism that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000243-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011117
name: cryptorchidism, sheep
def: "Cryptorchidism that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000243-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010275 {source="OMIA:000243", source="https://orcid.org/0000-0002-5002-8648"} ! cryptorchidism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0009047 ! cross-species analog cryptorchidism
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000243-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011118
name: hypogonadism, dog
def: "Hypogonadism that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000522-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010276 {source="OMIA:000522", source="https://orcid.org/0000-0002-5002-8648"} ! hypogonadism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002146 ! cross-species analog hypogonadism
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000522-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011119
name: hypogonadism, deer
def: "Hypogonadism that occurs in deer." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000522-9850 {source="MONDO:equivalentTo"}
is_a: MONDO:1010276 {source="OMIA:000522", source="https://orcid.org/0000-0002-5002-8648"} ! hypogonadism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9850 ! Cervidae
intersection_of: MONDO:0700097 MONDO:0002146 ! cross-species analog hypogonadism
relationship: in_taxon NCBITaxon:9850 {source="OMIA:000522-9850", source="https://orcid.org/0000-0002-5002-8648"} ! Cervidae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011120
name: orchitis, dog
def: "Orchitis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000745-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010277 {source="OMIA:000745", source="https://orcid.org/0000-0002-5002-8648"} ! orchitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0006882 ! cross-species analog orchitis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000745-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011121
name: orchitis, domestic cat
def: "Orchitis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000745-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010277 {source="OMIA:000745", source="https://orcid.org/0000-0002-5002-8648"} ! orchitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0006882 ! cross-species analog orchitis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000745-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011122
name: persistent Mullerian duct syndrome, dog
def: "Persistent Mullerian duct syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000791-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010278 {source="OMIA:000791", source="https://orcid.org/0000-0002-5002-8648"} ! persistent Mullerian duct syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009857 ! cross-species analog persistent Mullerian duct syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000791-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011123
name: persistent Mullerian duct syndrome, domestic cat
def: "Persistent Mullerian duct syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000791-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010278 {source="OMIA:000791", source="https://orcid.org/0000-0002-5002-8648"} ! persistent Mullerian duct syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009857 ! cross-species analog persistent Mullerian duct syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000791-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011124
name: persistent Mullerian duct syndrome, goat
def: "Persistent Mullerian duct syndrome that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000791-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010278 {source="OMIA:000791", source="https://orcid.org/0000-0002-5002-8648"} ! persistent Mullerian duct syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0009857 ! cross-species analog persistent Mullerian duct syndrome
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000791-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011125
name: priapism, dog
def: "Priapism that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001166-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010280 {source="OMIA:001166", source="https://orcid.org/0000-0002-5002-8648"} ! priapism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004745 ! cross-species analog priapism
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001166-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011126
name: priapism, domestic cat
def: "Priapism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001166-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010280 {source="OMIA:001166", source="https://orcid.org/0000-0002-5002-8648"} ! priapism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004745 ! cross-species analog priapism
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001166-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011127
name: testicular regression syndrome, horse
def: "Testicular regression syndrome that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001535-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010281 {source="OMIA:001535", source="https://orcid.org/0000-0002-5002-8648"} ! testicular regression syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:8000015 ! cross-species analog 46,XY sex reversal 11
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001535-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011128
name: azoospermia, horse
def: "Azoospermia that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002500-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010282 {source="OMIA:002500", source="https://orcid.org/0000-0002-5002-8648"} ! azoospermia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0100459 ! cross-species analog azoospermia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002500-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011130
name: allergic rhinitis, cattle
def: "Allergic rhinitis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000027-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010284 {source="OMIA:000027", source="https://orcid.org/0000-0002-5002-8648"} ! allergic rhinitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0011786 ! cross-species analog allergic rhinitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000027-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011131
name: atrophic rhinitis, pig
def: "Atrophic rhinitis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000091-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010285 {source="OMIA:000091", source="https://orcid.org/0000-0002-5002-8648"} ! atrophic rhinitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005659 ! cross-species analog atrophic rhinitis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000091-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011132
name: atrophic rhinitis, cattle
def: "Atrophic rhinitis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000091-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010285 {source="OMIA:000091", source="https://orcid.org/0000-0002-5002-8648"} ! atrophic rhinitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005659 ! cross-species analog atrophic rhinitis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000091-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011133
name: pneumothorax, dog
def: "Pneumothorax that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000804-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010286 {source="OMIA:000804", source="https://orcid.org/0000-0002-5002-8648"} ! pneumothorax, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002076 ! cross-species analog pneumothorax
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000804-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011134
name: pneumothorax, domestic cat
def: "Pneumothorax that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000804-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010286 {source="OMIA:000804", source="https://orcid.org/0000-0002-5002-8648"} ! pneumothorax, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0002076 ! cross-species analog pneumothorax
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000804-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011135
name: pulmonary hypertension, pig
def: "Pulmonary hypertension that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000841-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010287 {source="OMIA:000841", source="https://orcid.org/0000-0002-5002-8648"} ! pulmonary hypertension, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005149 ! cross-species analog pulmonary hypertension
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000841-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011136
name: pulmonary hypertension, cattle
def: "Pulmonary hypertension that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000841-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010287 {source="OMIA:000841", source="https://orcid.org/0000-0002-5002-8648"} ! pulmonary hypertension, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005149 ! cross-species analog pulmonary hypertension
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000841-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011138
name: choanal atresia, alpaca
def: "Choanal atresia that occurs in alpaca." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001764-30538 {source="MONDO:equivalentTo"}
is_a: MONDO:1010289 {source="OMIA:001764", source="https://orcid.org/0000-0002-5002-8648"} ! choanal atresia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:30538 ! Vicugna pacos
intersection_of: MONDO:0700097 MONDO:0012155 ! cross-species analog choanal atresia
relationship: in_taxon NCBITaxon:30538 {source="OMIA:001764-30538", source="https://orcid.org/0000-0002-5002-8648"} ! Vicugna pacos
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011139
name: choanal atresia, dog
def: "Choanal atresia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001764-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010289 {source="OMIA:001764", source="https://orcid.org/0000-0002-5002-8648"} ! choanal atresia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0012155 ! cross-species analog choanal atresia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001764-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011140
name: choanal atresia, domestic cat
def: "Choanal atresia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001764-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010289 {source="OMIA:001764", source="https://orcid.org/0000-0002-5002-8648"} ! choanal atresia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0012155 ! cross-species analog choanal atresia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001764-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011141
name: choanal atresia, ass
def: "Choanal atresia that occurs in ass." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001764-9793 {source="MONDO:equivalentTo"}
is_a: MONDO:1010289 {source="OMIA:001764", source="https://orcid.org/0000-0002-5002-8648"} ! choanal atresia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9793 ! Equus asinus
intersection_of: MONDO:0700097 MONDO:0012155 ! cross-species analog choanal atresia
relationship: in_taxon NCBITaxon:9793 {source="OMIA:001764-9793", source="https://orcid.org/0000-0002-5002-8648"} ! Equus asinus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011142
name: choanal atresia, horse
def: "Choanal atresia that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001764-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010289 {source="OMIA:001764", source="https://orcid.org/0000-0002-5002-8648"} ! choanal atresia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0012155 ! cross-species analog choanal atresia
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001764-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011143
name: choanal atresia, llama
def: "Choanal atresia that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001764-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1010289 {source="OMIA:001764", source="https://orcid.org/0000-0002-5002-8648"} ! choanal atresia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0012155 ! cross-species analog choanal atresia
relationship: in_taxon NCBITaxon:9844 {source="OMIA:001764-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011144
name: choanal atresia, sheep
def: "Choanal atresia that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001764-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010289 {source="OMIA:001764", source="https://orcid.org/0000-0002-5002-8648"} ! choanal atresia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0012155 ! cross-species analog choanal atresia
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001764-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011145
name: pulmonary agenesis, horse
def: "Pulmonary agenesis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002520-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010290 {source="OMIA:002520", source="https://orcid.org/0000-0002-5002-8648"} ! pulmonary agenesis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0020110 ! cross-species analog pulmonary agenesis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002520-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011146
name: achondroplasia, water buffalo
def: "Achondroplasia that occurs in water buffalo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000004-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1010291 {source="OMIA:000004", source="https://orcid.org/0000-0002-5002-8648"} ! achondroplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:89462 ! Bubalus bubalis
intersection_of: MONDO:0700097 MONDO:0007037 ! cross-species analog Achondroplasia
relationship: in_taxon NCBITaxon:89462 {source="OMIA:000004-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011147
name: achondroplasia, dog
def: "Achondroplasia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000004-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010291 {source="OMIA:000004", source="https://orcid.org/0000-0002-5002-8648"} ! achondroplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0007037 ! cross-species analog Achondroplasia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000004-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011148
name: achondroplasia, cattle
def: "Achondroplasia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000004-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010291 {source="OMIA:000004", source="https://orcid.org/0000-0002-5002-8648"} ! achondroplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0007037 ! cross-species analog Achondroplasia
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000004-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011149
name: achondroplasia, sheep
def: "Achondroplasia that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000004-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010291 {source="OMIA:000004", source="https://orcid.org/0000-0002-5002-8648"} ! achondroplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0007037 ! cross-species analog Achondroplasia
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000004-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011150
name: ankylosing spondylitis, dog
def: "Ankylosing spondylitis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000046-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010292 {source="OMIA:000046", source="https://orcid.org/0000-0002-5002-8648"} ! ankylosing spondylitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005306 ! cross-species analog ankylosing spondylitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000046-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011151
name: anodontia, dog
def: "Anodontia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000048-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010293 {source="OMIA:000048", source="https://orcid.org/0000-0002-5002-8648"} ! anodontia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008797 ! cross-species analog anodontia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000048-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011152
name: anodontia, domestic cat
def: "Anodontia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000048-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010293 {source="OMIA:000048", source="https://orcid.org/0000-0002-5002-8648"} ! anodontia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008797 ! cross-species analog anodontia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000048-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011153
name: rheumatoid arthritis, dog
def: "Rheumatoid arthritis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000067-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010294 {source="OMIA:000067", source="https://orcid.org/0000-0002-5002-8648"} ! rheumatoid arthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008383 ! cross-species analog rheumatoid arthritis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000067-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011154
name: osteoporosis, horse
def: "Osteoporosis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000105-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010295 {source="OMIA:000105", source="https://orcid.org/0000-0002-5002-8648"} ! osteoporosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005298 ! cross-species analog osteoporosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000105-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011155
name: Marfan syndrome, pig
def: "Marfan syndrome that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000628-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010296 {source="OMIA:000628", source="https://orcid.org/0000-0002-5002-8648"} ! Marfan syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0007947 ! cross-species analog Marfan syndrome
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000628-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011156
name: Marfan syndrome, cattle
def: "Marfan syndrome that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000628-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010296 {source="OMIA:000628", source="https://orcid.org/0000-0002-5002-8648"} ! Marfan syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0007947 ! cross-species analog Marfan syndrome
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000628-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011157
name: osteoarthritis, domestic guinea pig
def: "Osteoarthritis that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000747-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011158
name: osteoarthritis, sea otter
def: "Osteoarthritis that occurs in sea otter." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-34882 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:34882 ! Enhydra lutris
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:34882 {source="OMIA:000747-34882", source="https://orcid.org/0000-0002-5002-8648"} ! Enhydra lutris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011159
name: osteoarthritis, koala
def: "Osteoarthritis that occurs in koala." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-38626 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:38626 ! Phascolarctos cinereus
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:38626 {source="OMIA:000747-38626", source="https://orcid.org/0000-0002-5002-8648"} ! Phascolarctos cinereus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011160
name: osteoarthritis, dog
def: "Osteoarthritis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000747-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011161
name: osteoarthritis, domestic cat
def: "Osteoarthritis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000747-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011162
name: osteoarthritis, horse
def: "Osteoarthritis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000747-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011163
name: osteoarthritis, pig
def: "Osteoarthritis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000747-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011164
name: osteoarthritis, cattle
def: "Osteoarthritis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000747-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011165
name: osteoarthritis, sheep
def: "Osteoarthritis that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000747-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010297 {source="OMIA:000747", source="https://orcid.org/0000-0002-5002-8648"} ! osteoarthritis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0005178 ! cross-species analog osteoarthritis
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000747-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011166
name: osteochondritis dissecans, snow leopard
def: "Osteochondritis dissecans that occurs in snow leopard." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000748-29064 {source="MONDO:equivalentTo"}
is_a: MONDO:1010298 {source="OMIA:000748", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondritis dissecans, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:29064 ! Panthera uncia
intersection_of: MONDO:0700097 MONDO:0017178 ! cross-species analog osteochondritis dissecans
relationship: in_taxon NCBITaxon:29064 {source="OMIA:000748-29064", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera uncia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011167
name: osteochondritis dissecans, dog
def: "Osteochondritis dissecans that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000748-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010298 {source="OMIA:000748", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondritis dissecans, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0017178 ! cross-species analog osteochondritis dissecans
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000748-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011168
name: osteochondritis dissecans, horse
def: "Osteochondritis dissecans that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000748-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010298 {source="OMIA:000748", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondritis dissecans, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0017178 ! cross-species analog osteochondritis dissecans
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000748-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011169
name: osteochondrosis, raccoon dog
def: "Osteochondrosis that occurs in raccoon dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-34880 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:34880 ! Nyctereutes procyonoides
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:34880 {source="OMIA:000750-34880", source="https://orcid.org/0000-0002-5002-8648"} ! Nyctereutes procyonoides
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011170
name: osteochondrosis, chicken
def: "Osteochondrosis that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000750-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011171
name: osteochondrosis, dog
def: "Osteochondrosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000750-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011172
name: osteochondrosis, domestic cat
def: "Osteochondrosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000750-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011173
name: osteochondrosis, horse
def: "Osteochondrosis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000750-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011174
name: osteochondrosis, pig
def: "Osteochondrosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000750-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011175
name: osteochondrosis, deer
def: "Osteochondrosis that occurs in deer." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-9850 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9850 ! Cervidae
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:9850 {source="OMIA:000750-9850", source="https://orcid.org/0000-0002-5002-8648"} ! Cervidae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011176
name: osteochondrosis, cattle
def: "Osteochondrosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000750-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011177
name: osteochondrosis, sheep
def: "Osteochondrosis that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000750-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010299 {source="OMIA:000750", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0018381 ! cross-species analog osteochondrosis
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000750-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011178
name: osteopetrosis, Japanese quail
def: "Osteopetrosis that occurs in Japanese quail." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000755-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1010300 {source="OMIA:000755", source="https://orcid.org/0000-0002-5002-8648"} ! osteopetrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:93934 ! Coturnix japonica
intersection_of: MONDO:0700097 MONDO:0017198 ! cross-species analog osteopetrosis
relationship: in_taxon NCBITaxon:93934 {source="OMIA:000755-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011179
name: osteopetrosis, ass
def: "Osteopetrosis that occurs in ass." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000755-9793 {source="MONDO:equivalentTo"}
is_a: MONDO:1010300 {source="OMIA:000755", source="https://orcid.org/0000-0002-5002-8648"} ! osteopetrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9793 ! Equus asinus
intersection_of: MONDO:0700097 MONDO:0017198 ! cross-species analog osteopetrosis
relationship: in_taxon NCBITaxon:9793 {source="OMIA:000755-9793", source="https://orcid.org/0000-0002-5002-8648"} ! Equus asinus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011180
name: osteopetrosis, horse
def: "Osteopetrosis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000755-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010300 {source="OMIA:000755", source="https://orcid.org/0000-0002-5002-8648"} ! osteopetrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0017198 ! cross-species analog osteopetrosis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000755-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011181
name: osteopetrosis, cattle
def: "Osteopetrosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000755-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010300 {source="OMIA:000755", source="https://orcid.org/0000-0002-5002-8648"} ! osteopetrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0017198 ! cross-species analog osteopetrosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000755-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011182
name: osteopetrosis, rabbit
def: "Osteopetrosis that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000755-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010300 {source="OMIA:000755", source="https://orcid.org/0000-0002-5002-8648"} ! osteopetrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0017198 ! cross-species analog osteopetrosis
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000755-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011186
name: scoliosis, chicken
def: "Scoliosis that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000891-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010302 {source="OMIA:000891", source="https://orcid.org/0000-0002-5002-8648"} ! scoliosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0005392 ! cross-species analog scoliosis
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000891-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011187
name: scoliosis, dog
def: "Scoliosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000891-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010302 {source="OMIA:000891", source="https://orcid.org/0000-0002-5002-8648"} ! scoliosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005392 ! cross-species analog scoliosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000891-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011188
name: scoliosis, horse
def: "Scoliosis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000891-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010302 {source="OMIA:000891", source="https://orcid.org/0000-0002-5002-8648"} ! scoliosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005392 ! cross-species analog scoliosis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000891-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011189
name: spinal stenosis, dog
def: "Spinal stenosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000947-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010303 {source="OMIA:000947", source="https://orcid.org/0000-0002-5002-8648"} ! spinal stenosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005965 ! cross-species analog spinal stenosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000947-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011190
name: spinal stenosis, cattle
def: "Spinal stenosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000947-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010303 {source="OMIA:000947", source="https://orcid.org/0000-0002-5002-8648"} ! spinal stenosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005965 ! cross-species analog spinal stenosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000947-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011191
name: synovial chondromatosis, great horned owl
def: "Synovial chondromatosis that occurs in great horned owl." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001174-56268 {source="MONDO:equivalentTo"}
is_a: MONDO:1010304 {source="OMIA:001174", source="https://orcid.org/0000-0002-5002-8648"} ! synovial chondromatosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:56268 ! Bubo virginianus
intersection_of: MONDO:0700097 MONDO:0006438 ! cross-species analog synovial chondromatosis
relationship: in_taxon NCBITaxon:56268 {source="OMIA:001174-56268", source="https://orcid.org/0000-0002-5002-8648"} ! Bubo virginianus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011192
name: synovial chondromatosis, horse
def: "Synovial chondromatosis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001174-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010304 {source="OMIA:001174", source="https://orcid.org/0000-0002-5002-8648"} ! synovial chondromatosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0006438 ! cross-species analog synovial chondromatosis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001174-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011193
name: craniosynostosis, rabbit
def: "Craniosynostosis that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001224-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010305 {source="OMIA:001224", source="https://orcid.org/0000-0002-5002-8648"} ! craniosynostosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0015469 ! cross-species analog craniosynostosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001224-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011194
name: osteochondrodysplasia, dog
def: "Osteochondrodysplasia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001315-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010306 {source="OMIA:001315", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrodysplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005516 ! cross-species analog osteochondrodysplasia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001315-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011195
name: osteochondrodysplasia, domestic cat
def: "Osteochondrodysplasia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001315-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010306 {source="OMIA:001315", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrodysplasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005516 ! cross-species analog osteochondrodysplasia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001315-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011201
name: schmid metaphyseal chondrodysplasia dwarfism, pig
def: "Schmid metaphyseal chondrodysplasia dwarfism that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001718-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010310 {source="OMIA:001718", source="https://orcid.org/0000-0002-5002-8648"} ! schmid metaphyseal chondrodysplasia dwarfism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0007983 ! cross-species analog Schmid metaphyseal chondrodysplasia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001718-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011203
name: osteopetrosis with gingival hamartomas, cattle
def: "Osteopetrosis with gingival hamartomas that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001887-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010312 {source="OMIA:001887", source="https://orcid.org/0000-0002-5002-8648"} ! osteopetrosis with gingival hamartomas, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0012676 ! cross-species analog autosomal recessive osteopetrosis 4
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001887-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011204
name: spondylocostal dysostosis, autosomal recessive, dog
def: "Spondylocostal dysostosis, autosomal recessive that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001944-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010313 {source="OMIA:001944", source="https://orcid.org/0000-0002-5002-8648"} ! spondylocostal dysostosis, autosomal recessive, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010180 ! cross-species analog autosomal recessive spondylocostal dysostosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001944-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011205
name: Van den Ende-Gupta syndrome, dog
def: "Van den Ende-Gupta syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002016-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010314 {source="OMIA:002016", source="https://orcid.org/0000-0002-5002-8648"} ! Van den Ende-Gupta syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010959 ! cross-species analog van den Ende-Gupta syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002016-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011206
name: periodontitis, Rhesus monkey
def: "Periodontitis that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002056-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1010315 {source="OMIA:002056", source="https://orcid.org/0000-0002-5002-8648"} ! periodontitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0005076 ! cross-species analog periodontitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9544 {source="OMIA:002056-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011207
name: hypophosphatasia, dog
def: "Hypophosphatasia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002162-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010316 {source="OMIA:002162", source="https://orcid.org/0000-0002-5002-8648"} ! hypophosphatasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018570 ! cross-species analog hypophosphatasia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002162-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011208
name: hypophosphatasia, sheep
def: "Hypophosphatasia that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002162-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010316 {source="OMIA:002162", source="https://orcid.org/0000-0002-5002-8648"} ! hypophosphatasia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0018570 ! cross-species analog hypophosphatasia
relationship: in_taxon NCBITaxon:9940 {source="OMIA:002162-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011210
name: GAPO syndrome, pig
def: "GAPO syndrome that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002544-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010318 {source="OMIA:002544", source="https://orcid.org/0000-0002-5002-8648"} ! GAPO syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0009263 ! cross-species analog GAPO syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002544-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011211
name: coloboma, snow leopard
def: "Coloboma that occurs in snow leopard." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219-29064 {source="MONDO:equivalentTo"}
is_a: MONDO:1010319 {source="OMIA:000219", source="https://orcid.org/0000-0002-5002-8648"} ! coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:29064 ! Panthera uncia
intersection_of: MONDO:0700097 MONDO:0001476 ! cross-species analog coloboma
relationship: in_taxon NCBITaxon:29064 {source="OMIA:000219-29064", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera uncia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011212
name: coloboma, Mexican tetra
def: "Coloboma that occurs in Mexican tetra." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219-7994 {source="MONDO:equivalentTo"}
is_a: MONDO:1010319 {source="OMIA:000219", source="https://orcid.org/0000-0002-5002-8648"} ! coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:7994 ! Astyanax mexicanus
intersection_of: MONDO:0700097 MONDO:0001476 ! cross-species analog coloboma
relationship: in_taxon NCBITaxon:7994 {source="OMIA:000219-7994", source="https://orcid.org/0000-0002-5002-8648"} ! Astyanax mexicanus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011213
name: coloboma, chicken
def: "Coloboma that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010319 {source="OMIA:000219", source="https://orcid.org/0000-0002-5002-8648"} ! coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0001476 ! cross-species analog coloboma
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000219-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011214
name: coloboma, dog
def: "Coloboma that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010319 {source="OMIA:000219", source="https://orcid.org/0000-0002-5002-8648"} ! coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001476 ! cross-species analog coloboma
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000219-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011215
name: coloboma, domestic cat
def: "Coloboma that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010319 {source="OMIA:000219", source="https://orcid.org/0000-0002-5002-8648"} ! coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001476 ! cross-species analog coloboma
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000219-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011216
name: coloboma, horse
def: "Coloboma that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010319 {source="OMIA:000219", source="https://orcid.org/0000-0002-5002-8648"} ! coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001476 ! cross-species analog coloboma
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000219-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011217
name: coloboma, llama
def: "Coloboma that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1010319 {source="OMIA:000219", source="https://orcid.org/0000-0002-5002-8648"} ! coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0001476 ! cross-species analog coloboma
relationship: in_taxon NCBITaxon:9844 {source="OMIA:000219-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011218
name: coloboma, cattle
def: "Coloboma that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000219-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010319 {source="OMIA:000219", source="https://orcid.org/0000-0002-5002-8648"} ! coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0001476 ! cross-species analog coloboma
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000219-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011219
name: corneal dystrophy, dog
def: "Corneal dystrophy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000230-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010320 {source="OMIA:000230", source="https://orcid.org/0000-0002-5002-8648"} ! corneal dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018102 ! cross-species analog corneal dystrophy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000230-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011220
name: corneal dystrophy, domestic cat
def: "Corneal dystrophy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000230-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010320 {source="OMIA:000230", source="https://orcid.org/0000-0002-5002-8648"} ! corneal dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018102 ! cross-species analog corneal dystrophy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000230-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011221
name: retinal detachment, dog
def: "Retinal detachment that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000275-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010321 {source="OMIA:000275", source="https://orcid.org/0000-0002-5002-8648"} ! retinal detachment, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008375 ! cross-species analog retinal detachment
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000275-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011222
name: retinal detachment, domestic cat
def: "Retinal detachment that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000275-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010321 {source="OMIA:000275", source="https://orcid.org/0000-0002-5002-8648"} ! retinal detachment, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008375 ! cross-species analog retinal detachment
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000275-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011223
name: retinal detachment, horse
def: "Retinal detachment that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000275-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010321 {source="OMIA:000275", source="https://orcid.org/0000-0002-5002-8648"} ! retinal detachment, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0008375 ! cross-species analog retinal detachment
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000275-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011224
name: ectropion, dog
def: "Ectropion that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000325-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010322 {source="OMIA:000325", source="https://orcid.org/0000-0002-5002-8648"} ! ectropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002043 ! cross-species analog ectropion
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000325-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011225
name: entropion, dog
def: "Entropion that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010323 {source="OMIA:000337", source="https://orcid.org/0000-0002-5002-8648"} ! entropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001519 ! cross-species analog entropion
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000337-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011226
name: entropion, domestic cat
def: "Entropion that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010323 {source="OMIA:000337", source="https://orcid.org/0000-0002-5002-8648"} ! entropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001519 ! cross-species analog entropion
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000337-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011227
name: entropion, horse
def: "Entropion that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010323 {source="OMIA:000337", source="https://orcid.org/0000-0002-5002-8648"} ! entropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001519 ! cross-species analog entropion
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000337-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011228
name: entropion, pig
def: "Entropion that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010323 {source="OMIA:000337", source="https://orcid.org/0000-0002-5002-8648"} ! entropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0001519 ! cross-species analog entropion
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000337-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011229
name: entropion, cattle
def: "Entropion that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010323 {source="OMIA:000337", source="https://orcid.org/0000-0002-5002-8648"} ! entropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0001519 ! cross-species analog entropion
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000337-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011230
name: entropion, goat
def: "Entropion that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1010323 {source="OMIA:000337", source="https://orcid.org/0000-0002-5002-8648"} ! entropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0001519 ! cross-species analog entropion
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000337-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011231
name: entropion, sheep
def: "Entropion that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010323 {source="OMIA:000337", source="https://orcid.org/0000-0002-5002-8648"} ! entropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0001519 ! cross-species analog entropion
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000337-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011232
name: entropion, rabbit
def: "Entropion that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000337-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010323 {source="OMIA:000337", source="https://orcid.org/0000-0002-5002-8648"} ! entropion, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0001519 ! cross-species analog entropion
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000337-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011233
name: microphthalmia, golden hamster
def: "Microphthalmia that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000649-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011234
name: microphthalmia, Campbell's desert hamster
def: "Microphthalmia that occurs in Campbell's desert hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-47665 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:47665 ! Phodopus campbelli
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:47665 {source="OMIA:000649-47665", source="https://orcid.org/0000-0002-5002-8648"} ! Phodopus campbelli
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011235
name: microphthalmia, Nile tilapia
def: "Microphthalmia that occurs in Nile tilapia." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-8128 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8128 ! Oreochromis niloticus
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:8128 {source="OMIA:000649-8128", source="https://orcid.org/0000-0002-5002-8648"} ! Oreochromis niloticus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011236
name: microphthalmia, water buffalo
def: "Microphthalmia that occurs in water buffalo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:89462 ! Bubalus bubalis
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:89462 {source="OMIA:000649-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011237
name: microphthalmia, chicken
def: "Microphthalmia that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000649-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011238
name: microphthalmia, dog
def: "Microphthalmia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000649-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011239
name: microphthalmia, pig
def: "Microphthalmia that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000649-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011240
name: microphthalmia, Eastern wapiti
def: "Microphthalmia that occurs in Eastern wapiti." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-9861 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9861 ! Cervus canadensis canadensis
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:9861 {source="OMIA:000649-9861", source="https://orcid.org/0000-0002-5002-8648"} ! Cervus canadensis canadensis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011241
name: microphthalmia, cattle
def: "Microphthalmia that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000649-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011242
name: microphthalmia, sheep
def: "Microphthalmia that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000649-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1010324 {source="OMIA:000649", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0021129 ! cross-species analog microphthalmia
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000649-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011243
name: congenital nystagmus, dog
def: "Congenital nystagmus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000731-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010325 {source="OMIA:000731", source="https://orcid.org/0000-0002-5002-8648"} ! congenital nystagmus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005712 ! cross-species analog congenital nystagmus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000731-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011244
name: retinal degeneration, crab-eating macaque
def: "Retinal degeneration that occurs in crab-eating macaque." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000866-9541 {source="MONDO:equivalentTo"}
is_a: MONDO:1010326 {source="OMIA:000866", source="https://orcid.org/0000-0002-5002-8648"} ! retinal degeneration, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9541 ! Macaca fascicularis
intersection_of: MONDO:0700097 MONDO:0004580 ! cross-species analog retinal degeneration
relationship: in_taxon NCBITaxon:9541 {source="OMIA:000866-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca fascicularis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011245
name: retinal degeneration, domestic cat
def: "Retinal degeneration that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000866-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010326 {source="OMIA:000866", source="https://orcid.org/0000-0002-5002-8648"} ! retinal degeneration, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004580 ! cross-species analog retinal degeneration
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000866-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011246
name: retinal degeneration, horse
def: "Retinal degeneration that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000866-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010326 {source="OMIA:000866", source="https://orcid.org/0000-0002-5002-8648"} ! retinal degeneration, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0004580 ! cross-species analog retinal degeneration
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000866-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011247
name: retinal degeneration, cattle
def: "Retinal degeneration that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000866-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010326 {source="OMIA:000866", source="https://orcid.org/0000-0002-5002-8648"} ! retinal degeneration, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0004580 ! cross-species analog retinal degeneration
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000866-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011248
name: strabismus, domestic cat
def: "Strabismus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000949-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010327 {source="OMIA:000949", source="https://orcid.org/0000-0002-5002-8648"} ! strabismus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0003432 ! cross-species analog strabismus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000949-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011249
name: retinoschisis, dog
def: "Retinoschisis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001185-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010328 {source="OMIA:001185", source="https://orcid.org/0000-0002-5002-8648"} ! retinoschisis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004579 ! cross-species analog retinoschisis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001185-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011250
name: leber congenital amaurosis, dog
def: "Leber congenital amaurosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001222-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010329 {source="OMIA:001222", source="https://orcid.org/0000-0002-5002-8648"} ! Leber congenital amaurosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018998 ! cross-species analog Leber congenital amaurosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001222-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011251
name: leber congenital amaurosis, domestic cat
def: "Leber congenital amaurosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001222-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1010329 {source="OMIA:001222", source="https://orcid.org/0000-0002-5002-8648"} ! Leber congenital amaurosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018998 ! cross-species analog Leber congenital amaurosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001222-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011252
name: keratitis, dog
def: "Keratitis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001287-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010330 {source="OMIA:001287", source="https://orcid.org/0000-0002-5002-8648"} ! keratitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0003085 ! cross-species analog keratitis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001287-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011253
name: keratitis, horse
def: "Keratitis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001287-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010330 {source="OMIA:001287", source="https://orcid.org/0000-0002-5002-8648"} ! keratitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0003085 ! cross-species analog keratitis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001287-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011258
name: retinitis pigmentosa, pig
def: "Retinitis pigmentosa that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001413-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1010334 {source="OMIA:001413", source="https://orcid.org/0000-0002-5002-8648"} ! retinitis pigmentosa, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0019200 ! cross-species analog retinitis pigmentosa
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001413-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011259
name: retinitis pigmentosa, cattle
def: "Retinitis pigmentosa that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001413-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010334 {source="OMIA:001413", source="https://orcid.org/0000-0002-5002-8648"} ! retinitis pigmentosa, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019200 ! cross-species analog retinitis pigmentosa
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001413-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011263
name: myopia, dog
def: "Myopia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001487-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010337 {source="OMIA:001487", source="https://orcid.org/0000-0002-5002-8648"} ! myopia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001384 ! cross-species analog myopia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001487-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011270
name: diabetic cataract, degu
def: "Diabetic cataract that occurs in degu." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001865-10160 {source="MONDO:equivalentTo"}
is_a: MONDO:1010343 {source="OMIA:001865", source="https://orcid.org/0000-0002-5002-8648"} ! diabetic cataract, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10160 ! Octodon degus
intersection_of: MONDO:0700097 MONDO:0001687 ! cross-species analog diabetic cataract
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:10160 {source="OMIA:001865-10160", source="https://orcid.org/0000-0002-5002-8648"} ! Octodon degus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011271
name: Peters anomaly, snow leopard
def: "Peters anomaly that occurs in snow leopard." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001914-29064 {source="MONDO:equivalentTo"}
is_a: MONDO:1010344 {source="OMIA:001914", source="https://orcid.org/0000-0002-5002-8648"} ! Peters anomaly, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:29064 ! Panthera uncia
intersection_of: MONDO:0700097 MONDO:0011414 ! cross-species analog Peters anomaly
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:29064 {source="OMIA:001914-29064", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera uncia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011278
name: macular corneal dystrophy, dog
def: "Macular corneal dystrophy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002071-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010350 {source="OMIA:002071", source="https://orcid.org/0000-0002-5002-8648"} ! macular corneal dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009020 ! cross-species analog macular corneal dystrophy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002071-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011279
name: age-related macular degeneration, Rhesus monkey
def: "Age-related macular degeneration that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002142-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1010351 {source="OMIA:002142", source="https://orcid.org/0000-0002-5002-8648"} ! age-related macular degeneration, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0005150 ! cross-species analog age-related macular degeneration
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9544 {source="OMIA:002142-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011280
name: microphthalmia, isolated, with coloboma, dog
def: "Microphthalmia, isolated, with coloboma that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002151-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010352 {source="OMIA:002151", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, isolated, with coloboma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0000170 ! cross-species analog microphthalmia, isolated, with coloboma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002151-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011286
name: Leber hereditary optic neuropathy, cattle
def: "Leber hereditary optic neuropathy that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002557-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010358 {source="OMIA:002557", source="https://orcid.org/0000-0002-5002-8648"} ! Leber hereditary optic neuropathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0010788 ! cross-species analog Leber hereditary optic neuropathy
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002557-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011287
name: night blindness, dog
def: "Night blindness that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002580-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1010359 {source="OMIA:002580", source="https://orcid.org/0000-0002-5002-8648"} ! night blindness, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004588 ! cross-species analog night blindness
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002580-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011288
name: night blindness, cattle
def: "Night blindness that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002580-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010359 {source="OMIA:002580", source="https://orcid.org/0000-0002-5002-8648"} ! night blindness, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0004588 ! cross-species analog night blindness
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002580-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011289
name: dacryocystitis, rabbit
def: "Dacryocystitis that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002610-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1010360 {source="OMIA:002610", source="https://orcid.org/0000-0002-5002-8648"} ! dacryocystitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0004926 ! cross-species analog dacryocystitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:002610-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7075" xsd:anyURI

[Term]
id: MONDO:1011300
name: acute disease, non-human animal
def: "Acute disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020683 ! cross-species analog acute disease

[Term]
id: MONDO:1011301
name: auditory system disorder, non-human animal
def: "Auditory system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002409 ! cross-species analog auditory system disorder

[Term]
id: MONDO:1011302
name: branchial arch disease, non-human animal
def: "Branchial arch disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0022606 ! cross-species analog branchial arch disease

[Term]
id: MONDO:1011303
name: mammary gland disorder, non-human animal
def: "Mammary gland disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002657 ! cross-species analog breast disorder

[Term]
id: MONDO:1011304
name: mammary fibrocystic disease, non-human animal
def: "Mammary fibrocystic disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005219 ! cross-species analog breast fibrocystic disease

[Term]
id: MONDO:1011305
name: cancer or benign tumor, non-human animal
def: "Cancer or benign tumor that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0045024 ! cross-species analog cancer or benign tumor

[Term]
id: MONDO:1011306
name: cardiovascular disorder, non-human animal
def: "Cardiovascular disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004995 ! cross-species analog cardiovascular disorder

[Term]
id: MONDO:1011307
name: chromosomal disorder, non-human animal
def: "Chromosomal disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019040 ! cross-species analog chromosomal disorder

[Term]
id: MONDO:1011308
name: congenital nervous system disorder, non-human animal
def: "Congenital nervous system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002320 ! cross-species analog congenital nervous system disorder

[Term]
id: MONDO:1011309
name: connective tissue disorder, non-human animal
def: "Connective tissue disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0003900 ! cross-species analog connective tissue disorder

[Term]
id: MONDO:1011310
name: developmental defect during embryogenesis, non-human animal
def: "Developmental defect during embryogenesis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019755 ! cross-species analog developmental defect during embryogenesis

[Term]
id: MONDO:1011311
name: digestive system disorder, non-human animal
def: "Digestive system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004335 ! cross-species analog digestive system disorder

[Term]
id: MONDO:1011312
name: disease related to transplantation, non-human animal
def: "Disease related to transplantation that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0700220 ! cross-species analog disease related to transplantation

[Term]
id: MONDO:1011313
name: disorder of development or morphogenesis, non-human animal
def: "Disorder of development or morphogenesis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021147 ! cross-species analog disorder of development or morphogenesis

[Term]
id: MONDO:1011314
name: disorder of glycosylation, non-human animal
def: "Disorder of glycosylation that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024322 ! cross-species analog disorder of glycosylation
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1011315
name: disorder of orbital region, non-human animal
def: "Disorder of orbital region that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002022 ! cross-species analog disorder of orbital region

[Term]
id: MONDO:1011316
name: disorder of visual system, non-human animal
def: "Disorder of visual system that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024458 ! cross-species analog disorder of visual system

[Term]
id: MONDO:1011317
name: endocrine system disorder, non-human animal
def: "Endocrine system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005151 ! cross-species analog endocrine system disorder

[Term]
id: MONDO:1011318
name: hearing disorder, non-human animal
def: "Hearing disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021945 ! cross-species analog hearing disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1011319
name: hematologic disorder, non-human animal
def: "Hematologic disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005570 ! cross-species analog hematologic disorder

[Term]
id: MONDO:1011321
name: hereditary disease, non-human animal
def: "Hereditary disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease

[Term]
id: MONDO:1011322
name: iatrogenic disease, non-human animal
def: "Iatrogenic disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0043543 ! cross-species analog iatrogenic disease

[Term]
id: MONDO:1011323
name: idiopathic disease, non-human animal
def: "Idiopathic disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0700007 ! cross-species analog idiopathic disease

[Term]
id: MONDO:1011325
name: immunodeficiency-related disorder, non-human animal
def: "Immunodeficiency-Related disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024572 ! cross-species analog immunodeficiency-related disorder

[Term]
id: MONDO:1011327
name: inflammatory disease, non-human animal
def: "Inflammatory disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021166 ! cross-species analog inflammatory disease

[Term]
id: MONDO:1011328
name: integumentary system disorder, non-human animal
def: "Integumentary system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002051 ! cross-species analog integumentary system disorder

[Term]
id: MONDO:1011329
name: keratoconjunctivitis, non-human animal
def: "Keratoconjunctivitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004768 ! cross-species analog keratoconjunctivitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1011330
name: lymphoid system disorder, non-human animal
def: "Lymphoid system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0044986 ! cross-species analog lymphoid system disorder

[Term]
id: MONDO:1011331
name: metabolic disease, non-human animal
def: "Metabolic disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005066 ! cross-species analog metabolic disease

[Term]
id: MONDO:1011332
name: mitochondrial disease, non-human animal
def: "Mitochondrial disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0044970 ! cross-species analog mitochondrial disease

[Term]
id: MONDO:1011333
name: mouth disorder, non-human animal
def: "Mouth disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0006858 ! cross-species analog mouth disorder

[Term]
id: MONDO:1011334
name: mouth mucosa disorder, non-human animal
def: "Mouth mucosa disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0044992 ! cross-species analog mouth mucosa disorder

[Term]
id: MONDO:1011335
name: musculoskeletal system disorder, non-human animal
def: "Musculoskeletal system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002081 ! cross-species analog musculoskeletal system disorder

[Term]
id: MONDO:1011336
name: nervous system disorder, non-human animal
def: "Nervous system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005071 ! cross-species analog nervous system disorder

[Term]
id: MONDO:1011337
name: neurocristopathy, non-human animal
def: "Neurocristopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021635 ! cross-species analog neurocristopathy

[Term]
id: MONDO:1011338
name: nutritional disorder, non-human animal
def: "Nutritional disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005137 ! cross-species analog nutritional disorder

[Term]
id: MONDO:1011339
name: obstetric disorder, non-human animal
def: "Obstetric disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0700003 ! cross-species analog obstetric disorder

[Term]
id: MONDO:1011340
name: occupational disorder, non-human animal
def: "Occupational disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0100366 ! cross-species analog occupational disorder

[Term]
id: MONDO:1011341
name: omphalitis, non-human animal
def: "Omphalitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021562 ! cross-species analog omphalitis

[Term]
id: MONDO:1011342
name: otorhinolaryngologic disease, non-human animal
def: "Otorhinolaryngologic disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024623 ! cross-species analog otorhinolaryngologic disease

[Term]
id: MONDO:1011343
name: perceptual disorders, non-human animal
def: "Perceptual disorders that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024417 ! cross-species analog perceptual disorders

[Term]
id: MONDO:1011344
name: perinatal disease, non-human animal
def: "Perinatal disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0100086 ! cross-species analog perinatal disease

[Term]
id: MONDO:1011345
name: poisoning, non-human animal
def: "Poisoning that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0029000 ! cross-species analog poisoning

[Term]
id: MONDO:1011346
name: post-bacterial disorder, non-human animal
def: "Post-Bacterial disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021673 ! cross-species analog post-bacterial disorder

[Term]
id: MONDO:1011347
name: post-COVID-19 disorder, non-human animal
def: "Post-Covid-19 disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0100320 ! cross-species analog post-COVID-19 disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

[Term]
id: MONDO:1011348
name: post-infectious disorder, non-human animal
def: "Post-Infectious disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021669 ! cross-species analog post-infectious disorder

[Term]
id: MONDO:1011349
name: post-viral disorder, non-human animal
def: "Post-Viral disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021674 ! cross-species analog post-viral disorder

[Term]
id: MONDO:1011350
name: premature aging syndrome, non-human animal
def: "Premature aging syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019303 ! cross-species analog premature aging syndrome

[Term]
id: MONDO:1011351
name: psychiatric disorder, non-human animal
def: "Psychiatric disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002025 ! cross-species analog psychiatric disorder

[Term]
id: MONDO:1011352
name: radiation-induced disorder, non-human animal
def: "Radiation-induced disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0043459 ! cross-species analog radiation-induced disorder

[Term]
id: MONDO:1011353
name: radiculitis, non-human animal
def: "Radiculitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021765 ! cross-species analog radiculitis

[Term]
id: MONDO:1011354
name: reproductive system disorder, non-human animal
def: "Reproductive system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005039 ! cross-species analog reproductive system disorder

[Term]
id: MONDO:1011356
name: sensory ganglionopathy, non-human animal
def: "Sensory ganglionopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021260 ! cross-species analog sensory ganglionopathy

[Term]
id: MONDO:1011357
name: serositis, non-human animal
def: "Serositis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0043786 ! cross-species analog serositis

[Term]
id: MONDO:1011358
name: skin appendage disorder, non-human animal
def: "Skin appendage disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024481 ! cross-species analog skin appendage disorder

[Term]
id: MONDO:1011359
name: subcutaneous tissue disorder, non-human animal
def: "Subcutaneous tissue disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019296 ! cross-species analog subcutaneous tissue disorder

[Term]
id: MONDO:1011360
name: syndromic disease, non-human animal
def: "Syndromic disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002254 ! cross-species analog syndromic disease

[Term]
id: MONDO:1011361
name: thymus gland disorder, non-human animal
def: "Thymus gland disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0003393 ! cross-species analog thymus gland disorder

[Term]
id: MONDO:1011363
name: ulcer disease, non-human animal
def: "Ulcer disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0043839 ! cross-species analog ulcer disease

[Term]
id: MONDO:1011364
name: upper digestive tract disorder, non-human animal
def: "Upper digestive tract disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0044991 ! cross-species analog upper digestive tract disorder

[Term]
id: MONDO:1011365
name: urinary system disorder, non-human animal
def: "Urinary system disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002118 ! cross-species analog urinary system disorder

[Term]
id: MONDO:1011367
name: vision disorder, non-human animal
def: "Vision disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
is_a: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021084 ! cross-species analog vision disorder

[Term]
id: MONDO:1011400
name: pituitary-dependent hyperadrenocorticism, non-human animal
def: "Pituitary-dependent hyperadrenocorticism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000247 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000247"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009050 ! cross-species analog Cushing disease due to pituitary adenoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011401
name: type 1 diabetes mellitus, non-human animal
def: "Type 1 diabetes mellitus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000283 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000283"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005147 ! cross-species analog type 1 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011402
name: type 2 diabetes mellitus, non-human animal
def: "Type 2 diabetes mellitus that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000284 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000284"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005148 ! cross-species analog type 2 diabetes mellitus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011403
name: hyperadrenocorticism, non-human animal
def: "Hyperadrenocorticism that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000494 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000494"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018912 ! cross-species analog Cushing syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011404
name: metabolic syndrome, non-human animal
def: "Metabolic syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001898 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001898"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000816 ! cross-species analog abdominal obesity-metabolic syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011405
name: Diamond-Blackfan anemia, non-human animal
def: "Diamond-Blackfan anemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000041 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000041"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015253 ! cross-species analog Diamond-Blackfan anemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011406
name: autoimmune hemolytic anemia, non-human animal
def: "Autoimmune hemolytic anemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000432 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000432"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020108 ! cross-species analog autoimmune hemolytic anemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011407
name: nonspherocytic hemolytic anemia, non-human animal
def: "Nonspherocytic hemolytic anemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000433 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000433"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000105 ! cross-species analog anemia, nonspherocytic hemolytic
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011408
name: hemophilia A, non-human animal
def: "Hemophilia A that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000437 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000437"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010602 ! cross-species analog hemophilia A
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011409
name: portosystemic shunt, non-human animal
def: "Portosystemic shunt that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000817 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000817"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018811 ! cross-species analog congenital portosystemic shunt
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011410
name: vitamin-K-dependent blood coagulation factors deficiency, non-human animal
def: "Vitamin-K-Dependent blood coagulation factors deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001054 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001054"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015722 ! cross-species analog congenital vitamin K-dependent coagulation factors deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011411
name: Von Willebrand disease, non-human animal
def: "Von Willebrand disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001056 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001056"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0024574 ! cross-species analog von Willebrand disease (hereditary or acquired)
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011412
name: methemoglobinemia, non-human animal
def: "Methemoglobinemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001171 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001171"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001117 ! cross-species analog methemoglobinemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011413
name: paroxysmal nocturnal hemoglobinuria, non-human animal
def: "Paroxysmal nocturnal hemoglobinuria that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002372 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002372"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0100244 ! cross-species analog paroxysmal nocturnal hemoglobinuria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011414
name: vestibular disease, non-human animal
def: "Vestibular disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002263 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002263"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002643 ! cross-species analog vestibular disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011415
name: amyloidosis, non-human animal
def: "Amyloidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000037"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011416
name: calcinosis circumscripta, non-human animal
def: "Calcinosis circumscripta that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000158 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000158"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002123 ! cross-species analog calcinosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011417
name: hypertriglyceridemia, non-human animal
def: "Hypertriglyceridemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000514 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000514"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005347 ! cross-species analog hypertriglyceridemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011418
name: porphyria, non-human animal
def: "Porphyria that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000815 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000815"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0037939 ! cross-species analog porphyria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011419
name: glycogen storage disease, non-human animal
def: "Glycogen storage disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001883 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001883"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002412 ! cross-species analog disorder of glycogen metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011420
name: hyperhomocysteinemia, non-human animal
def: "Hyperhomocysteinemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002079 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002079"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004743 ! cross-species analog hyperhomocysteinemia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011421
name: complement component 3 deficiency, non-human animal
def: "Complement component 3 deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
synonym: "C3 deficiency" EXACT ABBREVIATION [OMIA:000155]
xref: OMIA:000155 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000155"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0013417 ! cross-species analog complement component 3 deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011422
name: severe combined immunodeficiency disease, non-human animal
def: "Severe combined immunodeficiency disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000220 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000220"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015974 ! cross-species analog severe combined immunodeficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011423
name: Complement component 6 deficiency, non-human animal
def: "Complement component 6 deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
synonym: "C6 deficiency" EXACT ABBREVIATION [OMIA:001624]
xref: OMIA:001624 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001624"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0012908 ! cross-species analog complement component 6 deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011424
name: Complement component 2 deficiency, non-human animal
def: "Complement component 2 deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
synonym: "C2 deficiency" EXACT ABBREVIATION [OMIA:001625]
xref: OMIA:001625 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001625"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009006 ! cross-species analog complement component 2 deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011425
name: Ehlers-Danlos syndrome, non-human animal
def: "Ehlers-Danlos syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000327 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000327"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0020066 ! cross-species analog Ehlers-Danlos syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011426
name: junctionalis epidermolysis bullosa , non-human animal
def: "Junctionalis epidermolysis bullosa that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000342 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000342"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017612 ! cross-species analog junctional epidermolysis bullosa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011427
name: ichthyosis, non-human animal
def: "Ichthyosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001993 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001993"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019269 ! cross-species analog ichthyosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011428
name: epidermolysis bullosa simplex, non-human animal
def: "Epidermolysis bullosa simplex that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002082 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002082"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0017610 ! cross-species analog epidermolysis bullosa simplex
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011429
name: hepatic lipidosis, non-human animal
def: "Hepatic lipidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000548 {source="MONDO:equivalentTo"}
xref: OMIA:000605 {source="MONDO:preferredExternal"}
is_a: MONDO:0005583 {source="OMIA:000548", source="OMIA:000605"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004790 ! cross-species analog fatty liver disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011430
name: neuronal ceroid lipofuscinosis, non-human animal
def: "Neuronal ceroid lipofuscinosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000181"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011431
name: Gaucher disease, non-human animal
def: "Gaucher disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000405 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000405"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018150 ! cross-species analog Gaucher disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011432
name: beta-mannosidosis, non-human animal
def: "Beta-mannosidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000626 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000626"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0009562 ! cross-species analog beta-mannosidosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011433
name: hyperkalemic periodic paralysis, non-human animal
def: "Hyperkalemic periodic paralysis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
synonym: "HYPP" EXACT ABBREVIATION [OMIA:000785]
xref: OMIA:000785 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000785"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008224 ! cross-species analog hyperkalemic periodic paralysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011434
name: hypokalaemic periodic paralysis, non-human animal
def: "Hypokalaemic periodic paralysis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001759 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001759"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008223 ! cross-species analog hypokalemic periodic paralysis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011435
name: Becker type muscular dystrophy, non-human animal
def: "Becker type muscular dystrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001888 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001888"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0010311 ! cross-species analog Becker muscular dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011436
name: histiocytosis, non-human animal
def: "Histiocytosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000474 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000474"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002637 ! cross-species analog histiocytosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011437
name: neurofibromatosis, non-human animal
def: "Neurofibromatosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000716 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000716"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0021061 ! cross-species analog neurofibromatosis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011438
name: nephroma, non-human animal
def: "Nephroma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001113 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001113"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0850149 ! cross-species analog nephroma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011439
name: Wilms tumor, non-human animal
def: "Wilms tumour that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001142 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001142"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019004 ! cross-species analog kidney Wilms tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011440
name: gastrointestinal stromal tumour, non-human animal
def: "Gastrointestinal stromal tumour that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001516 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001516"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011719 ! cross-species analog gastrointestinal stromal tumor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011441
name: mast cell tumor, non-human animal
def: "Mast cell tumor that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001797 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001797"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002724 ! cross-species analog mast cell neoplasm
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011442
name: enteropathy-associated T cell lymphoma, non-human animal
def: "Enteropathy-associated T cell lymphoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002526 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002526"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019473 ! cross-species analog enteropathy-associated T-cell lymphoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011443
name: Alzheimer disease, non-human animal
def: "Alzheimer disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000033 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000033"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004975 ! cross-species analog Alzheimer disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011444
name: neuroaxonal dystrophy, non-human animal
def: "Neuroaxonal dystrophy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000715 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000715"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0002283 ! cross-species analog neuroaxonal dystrophy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011445
name: fibrocartilaginous embolic myelopathy, non-human animal
def: "Fibrocartilaginous embolic myelopathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001120 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001120"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0023152 ! cross-species analog fibrocartilaginous embolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011446
name: medium-chain acyl-CoA dehydrogenase deficiency, non-human animal
def: "Medium-Chain acyl-CoA dehydrogenase deficiency that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002585 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002585"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0008721 ! cross-species analog medium chain acyl-CoA dehydrogenase deficiency
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011447
name: Waardenburg syndrome, non-human animal
def: "Waardenburg syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001059 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001059"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0018094 ! cross-species analog Waardenburg syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011448
name: Fanconi syndrome, non-human animal
def: "Fanconi syndrome that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000366 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000366"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001083 ! cross-species analog Fanconi renotubular syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011449
name: immunoglobulin A glomerulonephropathy, non-human animal
def: "Immunoglobulin A glomerulonephropathy that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000553 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000553"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005342 ! cross-species analog IgA glomerulonephritis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011450
name: xanthinuria, non-human animal
def: "Xanthinuria that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001283 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001283"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0000721 ! cross-species analog xanthinuria
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011451
name: idiopathic pulmonary fibrosis, non-human animal
def: "Idiopathic pulmonary fibrosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001417 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001417"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0800029 ! cross-species analog interstitial lung disease 2
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011452
name: intervertebral disc disease, non-human animal
def: "Intervertebral disc disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000157 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000157"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0011385 ! cross-species analog intervertebral disk degenerative disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011453
name: Legg-Calvé-Perthes disease, non-human animal
def: "Legg-Calvé-Perthes disease that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000586 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000586"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0007885 ! cross-species analog Legg-Calve-Perthes disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011454
name: osteogenesis imperfecta, non-human animal
def: "Osteogenesis imperfecta that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000754 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000754"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0019019 ! cross-species analog osteogenesis imperfecta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011455
name: arthrogryposis multiplex congenita, non-human animal
def: "Arthrogryposis multiplex congenita that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001465 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001465"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0015168 ! cross-species analog arthrogryposis multiplex congenita
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011456
name: rickets, non-human animal
def: "Rickets that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002364 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002364"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005520 ! cross-species analog rickets
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011457
name: glaucoma, non-human animal
def: "Glaucoma that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000411 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000411"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005041 ! cross-species analog glaucoma
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011458
name: glaucoma, primary closed-angle, non-human animal
def: "Glaucoma, primary closed-angle that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001871 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001871"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0030038 ! cross-species analog glaucoma, primary closed-angle
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011459
name: ligneous membranitis, non-human animal
def: "Ligneous membranitis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002020 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002020"} ! non-human animal disease
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0100560 ! cross-species analog ligneous conjunctivitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011460
name: Alzheimer disease, degu
def: "Alzheimer disease that occurs in degu." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000033-10160 {source="MONDO:equivalentTo"}
is_a: MONDO:1011443 {source="OMIA:000033", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10160 ! Octodon degus
intersection_of: MONDO:0700097 MONDO:0004975 ! cross-species analog Alzheimer disease
relationship: in_taxon NCBITaxon:10160 {source="OMIA:000033-10160", source="https://orcid.org/0000-0002-5002-8648"} ! Octodon degus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011461
name: Alzheimer disease, dog
def: "Alzheimer disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000033-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011443 {source="OMIA:000033", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004975 ! cross-species analog Alzheimer disease
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000033-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011462
name: Alzheimer disease, domestic cat
def: "Alzheimer disease that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000033-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011443 {source="OMIA:000033", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004975 ! cross-species analog Alzheimer disease
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000033-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011463
name: Alzheimer disease, sheep
def: "Alzheimer disease that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000033-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011443 {source="OMIA:000033", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0004975 ! cross-species analog Alzheimer disease
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000033-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011464
name: amyloidosis, black-footed cat
def: "Amyloidosis that occurs in black-footed cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-61379 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:61379
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:61379 {source="OMIA:000037-61379", source="https://orcid.org/0000-0002-5002-8648"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011465
name: amyloidosis, black-footed ferret
def: "Amyloidosis that occurs in black-footed ferret." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-77151 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:77151
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:77151 {source="OMIA:000037-77151", source="https://orcid.org/0000-0002-5002-8648"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011466
name: amyloidosis, chicken
def: "Amyloidosis that occurs in chicken." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9031 ! Gallus gallus
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000037-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011467
name: amyloidosis, dog
def: "Amyloidosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000037-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011468
name: amyloidosis, domestic cat
def: "Amyloidosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000037-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011469
name: amyloidosis, domestic goose
def: "Amyloidosis that occurs in domestic goose." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-8843 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8843 ! Anser anser
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:8843 {source="OMIA:000037-8843", source="https://orcid.org/0000-0002-5002-8648"} ! Anser anser
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011470
name: amyloidosis, ducks
def: "Amyloidosis that occurs in ducks." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-8835 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8835 ! Anas
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:8835 {source="OMIA:000037-8835", source="https://orcid.org/0000-0002-5002-8648"} ! Anas
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011471
name: amyloidosis, goat
def: "Amyloidosis that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000037-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011472
name: amyloidosis, golden hamster
def: "Amyloidosis that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000037-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011473
name: amyloidosis, Japanese quail
def: "Amyloidosis that occurs in Japanese quail." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000037-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:93934 ! Coturnix japonica
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:93934 {source="OMIA:000037-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011474
name: arthrogryposis multiplex congenita, cattle
def: "Arthrogryposis multiplex congenita that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001465-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011455 {source="OMIA:001465", source="https://orcid.org/0000-0002-5002-8648"} ! arthrogryposis multiplex congenita, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0015168 ! cross-species analog arthrogryposis multiplex congenita
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001465-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011475
name: arthrogryposis multiplex congenita, pig
def: "Arthrogryposis multiplex congenita that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001465-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011455 {source="OMIA:001465", source="https://orcid.org/0000-0002-5002-8648"} ! arthrogryposis multiplex congenita, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0015168 ! cross-species analog arthrogryposis multiplex congenita
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001465-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011476
name: arthrogryposis multiplex congenita, sheep
def: "Arthrogryposis multiplex congenita that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001465-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011455 {source="OMIA:001465", source="https://orcid.org/0000-0002-5002-8648"} ! arthrogryposis multiplex congenita, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0015168 ! cross-species analog arthrogryposis multiplex congenita
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001465-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011477
name: autoimmune hemolytic anemia, dog
def: "Autoimmune hemolytic anemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000432-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011406 {source="OMIA:000432", source="https://orcid.org/0000-0002-5002-8648"} ! autoimmune hemolytic anemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0020108 ! cross-species analog autoimmune hemolytic anemia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000432-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011478
name: autoimmune hemolytic anemia, domestic cat
def: "Autoimmune hemolytic anemia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000432-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011406 {source="OMIA:000432", source="https://orcid.org/0000-0002-5002-8648"} ! autoimmune hemolytic anemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0020108 ! cross-species analog autoimmune hemolytic anemia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000432-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011479
name: Becker type muscular dystrophy, dog
def: "Becker type muscular dystrophy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001888-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011435 {source="OMIA:001888", source="https://orcid.org/0000-0002-5002-8648"} ! Becker type muscular dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010311 ! cross-species analog Becker muscular dystrophy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001888-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011480
name: Becker type muscular dystrophy, pig
def: "Becker type muscular dystrophy that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001888-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011435 {source="OMIA:001888", source="https://orcid.org/0000-0002-5002-8648"} ! Becker type muscular dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0010311 ! cross-species analog Becker muscular dystrophy
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001888-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011481
name: beta-mannosidosis, cattle
def: "Beta-mannosidosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000626-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011432 {source="OMIA:000626", source="https://orcid.org/0000-0002-5002-8648"} ! beta-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0009562 ! cross-species analog beta-mannosidosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000626-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011482
name: beta-mannosidosis, dog
def: "Beta-mannosidosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000626-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011432 {source="OMIA:000626", source="https://orcid.org/0000-0002-5002-8648"} ! beta-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009562 ! cross-species analog beta-mannosidosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000626-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011483
name: beta-mannosidosis, goat
def: "Beta-mannosidosis that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000626-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011432 {source="OMIA:000626", source="https://orcid.org/0000-0002-5002-8648"} ! beta-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0009562 ! cross-species analog beta-mannosidosis
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000626-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011484
name: beta-mannosidosis, springbok
def: "Beta-mannosidosis that occurs in springbok." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000626-59523 {source="MONDO:equivalentTo"}
is_a: MONDO:1011432 {source="OMIA:000626", source="https://orcid.org/0000-0002-5002-8648"} ! beta-mannosidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:59523 ! Antidorcas marsupialis
intersection_of: MONDO:0700097 MONDO:0009562 ! cross-species analog beta-mannosidosis
relationship: in_taxon NCBITaxon:59523 {source="OMIA:000626-59523", source="https://orcid.org/0000-0002-5002-8648"} ! Antidorcas marsupialis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011485
name: calcinosis circumscripta, dog
def: "Calcinosis circumscripta that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000158-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011416 {source="OMIA:000158", source="https://orcid.org/0000-0002-5002-8648"} ! calcinosis circumscripta, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002123 ! cross-species analog calcinosis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000158-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011486
name: complement component 2 deficiency, domestic guinea pig
def: "Complement component 2 deficiency that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
synonym: "C2 deficiency, domestic guinea pig" EXACT ABBREVIATION [OMIA:001625-10141]
xref: OMIA:001625-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1011424 {source="OMIA:001625", source="https://orcid.org/0000-0002-5002-8648"} ! Complement component 2 deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0009006 ! cross-species analog complement component 2 deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:10141 {source="OMIA:001625-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011487
name: complement component 3 deficiency, dog
def: "Complement component 3 deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
synonym: "C3 deficiency, dog" EXACT ABBREVIATION [OMIA:000155-9615]
xref: OMIA:000155-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011421 {source="OMIA:000155", source="https://orcid.org/0000-0002-5002-8648"} ! complement component 3 deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0013417 ! cross-species analog complement component 3 deficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000155-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011488
name: complement component 3 deficiency, domestic guinea pig
def: "Complement component 3 deficiency that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
synonym: "C3 deficiency, domestic guinea pig" EXACT ABBREVIATION [OMIA:000155-10141]
xref: OMIA:000155-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1011421 {source="OMIA:000155", source="https://orcid.org/0000-0002-5002-8648"} ! complement component 3 deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0013417 ! cross-species analog complement component 3 deficiency
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000155-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011489
name: complement component 3 deficiency, rabbit
def: "Complement component 3 deficiency that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
synonym: "C3 deficiency, rabbit" EXACT ABBREVIATION [OMIA:000155-9986]
xref: OMIA:000155-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011421 {source="OMIA:000155", source="https://orcid.org/0000-0002-5002-8648"} ! complement component 3 deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0013417 ! cross-species analog complement component 3 deficiency
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000155-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011490
name: complement component 6 deficiency, rabbit
def: "Complement component 6 deficiency that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
synonym: "C6 deficiency, rabbit" EXACT ABBREVIATION [OMIA:001624-9986]
xref: OMIA:001624-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011423 {source="OMIA:001624", source="https://orcid.org/0000-0002-5002-8648"} ! Complement component 6 deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0012908 ! cross-species analog complement component 6 deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001624-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011491
name: Diamond-Blackfan anemia, dog
def: "Diamond-Blackfan anemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000041-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011405 {source="OMIA:000041", source="https://orcid.org/0000-0002-5002-8648"} ! Diamond-Blackfan anemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0015253 ! cross-species analog Diamond-Blackfan anemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000041-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011492
name: Ehlers-Danlos syndrome, American mink
def: "Ehlers-Danlos syndrome that occurs in American mink." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000327-452646 {source="MONDO:equivalentTo"}
is_a: MONDO:1011425 {source="OMIA:000327", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:452646 ! Neogale vison
intersection_of: MONDO:0700097 MONDO:0020066 ! cross-species analog Ehlers-Danlos syndrome
relationship: in_taxon NCBITaxon:452646 {source="OMIA:000327-452646", source="https://orcid.org/0000-0002-5002-8648"} ! Neogale vison
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011493
name: Ehlers-Danlos syndrome, dog
def: "Ehlers-Danlos syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000327-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011425 {source="OMIA:000327", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0020066 ! cross-species analog Ehlers-Danlos syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000327-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011494
name: Ehlers-Danlos syndrome, domestic cat
def: "Ehlers-Danlos syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000327-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011425 {source="OMIA:000327", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0020066 ! cross-species analog Ehlers-Danlos syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000327-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011495
name: Ehlers-Danlos syndrome, horse
def: "Ehlers-Danlos syndrome that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000327-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011425 {source="OMIA:000327", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0020066 ! cross-species analog Ehlers-Danlos syndrome
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000327-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011496
name: Ehlers-Danlos syndrome, rabbit
def: "Ehlers-Danlos syndrome that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000327-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011425 {source="OMIA:000327", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0020066 ! cross-species analog Ehlers-Danlos syndrome
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000327-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011497
name: Ehlers-Danlos syndrome, sheep
def: "Ehlers-Danlos syndrome that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000327-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011425 {source="OMIA:000327", source="https://orcid.org/0000-0002-5002-8648"} ! Ehlers-Danlos syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0020066 ! cross-species analog Ehlers-Danlos syndrome
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000327-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011498
name: enteropathy-associated T cell lymphoma, domestic cat
def: "Enteropathy-associated T cell lymphoma that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002526-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011442 {source="OMIA:002526", source="https://orcid.org/0000-0002-5002-8648"} ! enteropathy-associated T cell lymphoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019473 ! cross-species analog enteropathy-associated T-cell lymphoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002526-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011499
name: epidermolysis bullosa simplex, cattle
def: "Epidermolysis bullosa simplex that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002082-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011428 {source="OMIA:002082", source="https://orcid.org/0000-0002-5002-8648"} ! epidermolysis bullosa simplex, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0017610 ! cross-species analog epidermolysis bullosa simplex
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002082-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011500
name: epidermolysis bullosa simplex, dog
def: "Epidermolysis bullosa simplex that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002082-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011428 {source="OMIA:002082", source="https://orcid.org/0000-0002-5002-8648"} ! epidermolysis bullosa simplex, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0017610 ! cross-species analog epidermolysis bullosa simplex
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002082-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011501
name: epidermolysis bullosa simplex, water buffalo
def: "Epidermolysis bullosa simplex that occurs in water buffalo." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002082-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1011428 {source="OMIA:002082", source="https://orcid.org/0000-0002-5002-8648"} ! epidermolysis bullosa simplex, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:89462 ! Bubalus bubalis
intersection_of: MONDO:0700097 MONDO:0017610 ! cross-species analog epidermolysis bullosa simplex
relationship: in_taxon NCBITaxon:89462 {source="OMIA:002082-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011502
name: Fanconi syndrome, cattle
def: "Fanconi syndrome that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000366-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011448 {source="OMIA:000366", source="https://orcid.org/0000-0002-5002-8648"} ! Fanconi syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0001083 ! cross-species analog Fanconi renotubular syndrome
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000366-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011503
name: Fanconi syndrome, dog
def: "Fanconi syndrome that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000366-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011448 {source="OMIA:000366", source="https://orcid.org/0000-0002-5002-8648"} ! Fanconi syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001083 ! cross-species analog Fanconi renotubular syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000366-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011504
name: Fanconi syndrome, horse
def: "Fanconi syndrome that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000366-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011448 {source="OMIA:000366", source="https://orcid.org/0000-0002-5002-8648"} ! Fanconi syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001083 ! cross-species analog Fanconi renotubular syndrome
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000366-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011505
name: fibrocartilaginous embolic myelopathy, horse
def: "Fibrocartilaginous embolic myelopathy that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001120-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011445 {source="OMIA:001120", source="https://orcid.org/0000-0002-5002-8648"} ! fibrocartilaginous embolic myelopathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0023152 ! cross-species analog fibrocartilaginous embolism
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001120-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011507
name: Gaucher disease, dog
def: "Gaucher disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000405-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011431 {source="OMIA:000405", source="https://orcid.org/0000-0002-5002-8648"} ! Gaucher disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018150 ! cross-species analog Gaucher disease
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000405-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011508
name: Gaucher disease, pig
def: "Gaucher disease that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000405-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011431 {source="OMIA:000405", source="https://orcid.org/0000-0002-5002-8648"} ! Gaucher disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0018150 ! cross-species analog Gaucher disease
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000405-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011509
name: Gaucher disease, sheep
def: "Gaucher disease that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000405-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011431 {source="OMIA:000405", source="https://orcid.org/0000-0002-5002-8648"} ! Gaucher disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0018150 ! cross-species analog Gaucher disease
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000405-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011510
name: glaucoma, dog
def: "Glaucoma that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000411-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011457 {source="OMIA:000411", source="https://orcid.org/0000-0002-5002-8648"} ! glaucoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005041 ! cross-species analog glaucoma
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000411-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011511
name: glaucoma, domestic cat
def: "Glaucoma that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000411-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011457 {source="OMIA:000411", source="https://orcid.org/0000-0002-5002-8648"} ! glaucoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005041 ! cross-species analog glaucoma
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000411-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011512
name: glaucoma, horse
def: "Glaucoma that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000411-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011457 {source="OMIA:000411", source="https://orcid.org/0000-0002-5002-8648"} ! glaucoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005041 ! cross-species analog glaucoma
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000411-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011513
name: glaucoma, Japanese quail
def: "Glaucoma that occurs in Japanese quail." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000411-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1011457 {source="OMIA:000411", source="https://orcid.org/0000-0002-5002-8648"} ! glaucoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:93934 ! Coturnix japonica
intersection_of: MONDO:0700097 MONDO:0005041 ! cross-species analog glaucoma
relationship: in_taxon NCBITaxon:93934 {source="OMIA:000411-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011514
name: glaucoma, owls
def: "Glaucoma that occurs in owls." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000411-30458 {source="MONDO:equivalentTo"}
is_a: MONDO:1011457 {source="OMIA:000411", source="https://orcid.org/0000-0002-5002-8648"} ! glaucoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:30458 ! Strigiformes
intersection_of: MONDO:0700097 MONDO:0005041 ! cross-species analog glaucoma
relationship: in_taxon NCBITaxon:30458 {source="OMIA:000411-30458", source="https://orcid.org/0000-0002-5002-8648"} ! Strigiformes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011515
name: glaucoma, primary closed-angle, dog
def: "Glaucoma, primary closed-angle that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001871-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011458 {source="OMIA:001871", source="https://orcid.org/0000-0002-5002-8648"} ! glaucoma, primary closed-angle, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0030038 ! cross-species analog glaucoma, primary closed-angle
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001871-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011516
name: glaucoma, rabbit
def: "Glaucoma that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000411-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011457 {source="OMIA:000411", source="https://orcid.org/0000-0002-5002-8648"} ! glaucoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0005041 ! cross-species analog glaucoma
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000411-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011517
name: glaucoma, Rhesus monkey
def: "Glaucoma that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000411-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1011457 {source="OMIA:000411", source="https://orcid.org/0000-0002-5002-8648"} ! glaucoma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0005041 ! cross-species analog glaucoma
relationship: in_taxon NCBITaxon:9544 {source="OMIA:000411-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011518
name: glycogen storage disease, ring-tailed coati
def: "Glycogen storage disease that occurs in ring-tailed coati." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001883-9651 {source="MONDO:equivalentTo"}
is_a: MONDO:1011419 {source="OMIA:001883", source="https://orcid.org/0000-0002-5002-8648"} ! glycogen storage disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9651 ! Nasua nasua
intersection_of: MONDO:0700097 MONDO:0002412 ! cross-species analog disorder of glycogen metabolism
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9651 {source="OMIA:001883-9651", source="https://orcid.org/0000-0002-5002-8648"} ! Nasua nasua
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011519
name: hemophilia A, cattle
def: "Hemophilia A that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000437-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011408 {source="OMIA:000437", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia A, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0010602 ! cross-species analog hemophilia A
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000437-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011520
name: hemophilia A, crab-eating macaque
def: "Hemophilia A that occurs in crab-eating macaque." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000437-9541 {source="MONDO:equivalentTo"}
is_a: MONDO:1011408 {source="OMIA:000437", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia A, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9541 ! Macaca fascicularis
intersection_of: MONDO:0700097 MONDO:0010602 ! cross-species analog hemophilia A
relationship: in_taxon NCBITaxon:9541 {source="OMIA:000437-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca fascicularis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011521
name: hemophilia A, dog
def: "Hemophilia A that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000437-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011408 {source="OMIA:000437", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia A, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0010602 ! cross-species analog hemophilia A
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000437-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011522
name: hemophilia A, domestic cat
def: "Hemophilia A that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000437-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011408 {source="OMIA:000437", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia A, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0010602 ! cross-species analog hemophilia A
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000437-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011523
name: hemophilia A, horse
def: "Hemophilia A that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000437-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011408 {source="OMIA:000437", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia A, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0010602 ! cross-species analog hemophilia A
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000437-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011524
name: hemophilia A, pig
def: "Hemophilia A that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000437-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011408 {source="OMIA:000437", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia A, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0010602 ! cross-species analog hemophilia A
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000437-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011525
name: hemophilia A, sheep
def: "Hemophilia A that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000437-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011408 {source="OMIA:000437", source="https://orcid.org/0000-0002-5002-8648"} ! hemophilia A, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0010602 ! cross-species analog hemophilia A
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000437-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011526
name: hepatic lipidosis, cattle
def: "Hepatic lipidosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000605-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011429 {source="OMIA:000605", source="https://orcid.org/0000-0002-5002-8648"} ! hepatic lipidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0004790 ! cross-species analog fatty liver disease
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000605-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011527
name: hepatic lipidosis, domestic cat
def: "Hepatic lipidosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000548-9685 {source="MONDO:equivalentTo"}
xref: OMIA:000605-9685 {source="MONDO:preferredExternal"}
is_a: MONDO:1011429 {source="OMIA:000548", source="OMIA:000605", source="https://orcid.org/0000-0002-5002-8648"} ! hepatic lipidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004790 ! cross-species analog fatty liver disease
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000548-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011528
name: histiocytosis, cattle
def: "Histiocytosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000474-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011436 {source="OMIA:000474", source="https://orcid.org/0000-0002-5002-8648"} ! histiocytosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0002637 ! cross-species analog histiocytosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000474-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011529
name: histiocytosis, pig
def: "Histiocytosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000474-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011436 {source="OMIA:000474", source="https://orcid.org/0000-0002-5002-8648"} ! histiocytosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0002637 ! cross-species analog histiocytosis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000474-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011530
name: hyperadrenocorticism, dog
def: "Hyperadrenocorticism that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000494-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011403 {source="OMIA:000494", source="https://orcid.org/0000-0002-5002-8648"} ! hyperadrenocorticism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018912 ! cross-species analog Cushing syndrome
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000494-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011531
name: hyperadrenocorticism, domestic cat
def: "Hyperadrenocorticism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000494-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011403 {source="OMIA:000494", source="https://orcid.org/0000-0002-5002-8648"} ! hyperadrenocorticism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018912 ! cross-species analog Cushing syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000494-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011532
name: hyperadrenocorticism, domestic ferret
def: "Hyperadrenocorticism that occurs in domestic ferret." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000494-9669 {source="MONDO:equivalentTo"}
is_a: MONDO:1011403 {source="OMIA:000494", source="https://orcid.org/0000-0002-5002-8648"} ! hyperadrenocorticism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9669 ! Mustela putorius furo
intersection_of: MONDO:0700097 MONDO:0018912 ! cross-species analog Cushing syndrome
relationship: in_taxon NCBITaxon:9669 {source="OMIA:000494-9669", source="https://orcid.org/0000-0002-5002-8648"} ! Mustela putorius furo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011533
name: hyperadrenocorticism, golden hamster
def: "Hyperadrenocorticism that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000494-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1011403 {source="OMIA:000494", source="https://orcid.org/0000-0002-5002-8648"} ! hyperadrenocorticism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0018912 ! cross-species analog Cushing syndrome
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000494-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011534
name: hyperadrenocorticism, horse
def: "Hyperadrenocorticism that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000494-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011403 {source="OMIA:000494", source="https://orcid.org/0000-0002-5002-8648"} ! hyperadrenocorticism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0018912 ! cross-species analog Cushing syndrome
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000494-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011535
name: hyperhomocysteinemia, dog
def: "Hyperhomocysteinemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002079-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011420 {source="OMIA:002079", source="https://orcid.org/0000-0002-5002-8648"} ! hyperhomocysteinemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004743 ! cross-species analog hyperhomocysteinemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002079-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011536
name: hyperkalemic periodic paralysis, horse
def: "Hyperkalemic periodic paralysis that occurs in horse." [MONDO:patterns/nonhuman_disease]
synonym: "HYPP, horse" EXACT ABBREVIATION [OMIA:000785-9796]
xref: OMIA:000785-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011433 {source="OMIA:000785", source="https://orcid.org/0000-0002-5002-8648"} ! hyperkalemic periodic paralysis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0008224 ! cross-species analog hyperkalemic periodic paralysis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000785-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011537
name: hypertriglyceridemia, dog
def: "Hypertriglyceridemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000514-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011417 {source="OMIA:000514", source="https://orcid.org/0000-0002-5002-8648"} ! hypertriglyceridemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005347 ! cross-species analog hypertriglyceridemia
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000514-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011538
name: hypertriglyceridemia, domestic cat
def: "Hypertriglyceridemia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000514-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011417 {source="OMIA:000514", source="https://orcid.org/0000-0002-5002-8648"} ! hypertriglyceridemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005347 ! cross-species analog hypertriglyceridemia
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000514-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011539
name: hypokalaemic periodic paralysis, domestic cat
def: "Hypokalaemic periodic paralysis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001759-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011434 {source="OMIA:001759", source="https://orcid.org/0000-0002-5002-8648"} ! hypokalaemic periodic paralysis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0008223 ! cross-species analog hypokalemic periodic paralysis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001759-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011540
name: hypokalaemic periodic paralysis, lion
def: "Hypokalaemic periodic paralysis that occurs in lion." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001759-9689 {source="MONDO:equivalentTo"}
is_a: MONDO:1011434 {source="OMIA:001759", source="https://orcid.org/0000-0002-5002-8648"} ! hypokalaemic periodic paralysis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9689 ! Panthera leo
intersection_of: MONDO:0700097 MONDO:0008223 ! cross-species analog hypokalemic periodic paralysis
relationship: in_taxon NCBITaxon:9689 {source="OMIA:001759-9689", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera leo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011541
name: ichthyosis, cattle
def: "Ichthyosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001993-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011427 {source="OMIA:001993", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019269 ! cross-species analog ichthyosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001993-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011542
name: ichthyosis, greater kudu
def: "Ichthyosis that occurs in greater kudu." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001993-9946 {source="MONDO:equivalentTo"}
is_a: MONDO:1011427 {source="OMIA:001993", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9946 ! Tragelaphus strepsiceros
intersection_of: MONDO:0700097 MONDO:0019269 ! cross-species analog ichthyosis
relationship: in_taxon NCBITaxon:9946 {source="OMIA:001993-9946", source="https://orcid.org/0000-0002-5002-8648"} ! Tragelaphus strepsiceros
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011543
name: idiopathic pulmonary fibrosis, dog
def: "Idiopathic pulmonary fibrosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001417-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011451 {source="OMIA:001417", source="https://orcid.org/0000-0002-5002-8648"} ! idiopathic pulmonary fibrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0800029 ! cross-species analog interstitial lung disease 2
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001417-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011544
name: idiopathic pulmonary fibrosis, domestic cat
def: "Idiopathic pulmonary fibrosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001417-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011451 {source="OMIA:001417", source="https://orcid.org/0000-0002-5002-8648"} ! idiopathic pulmonary fibrosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0800029 ! cross-species analog interstitial lung disease 2
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001417-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011545
name: immunoglobulin A glomerulonephropathy, dog
def: "Immunoglobulin A glomerulonephropathy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000553-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011449 {source="OMIA:000553", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin A glomerulonephropathy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005342 ! cross-species analog IgA glomerulonephritis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000553-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011546
name: intervertebral disc disease, dog
def: "Intervertebral disc disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000157-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011452 {source="OMIA:000157", source="https://orcid.org/0000-0002-5002-8648"} ! intervertebral disc disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0011385 ! cross-species analog intervertebral disk degenerative disorder
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000157-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011547
name: junctionalis epidermolysis bullosa, cattle
def: "Junctionalis epidermolysis bullosa that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000342-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011426 {source="OMIA:000342", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa , non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0017612 ! cross-species analog junctional epidermolysis bullosa
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000342-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011548
name: junctionalis epidermolysis bullosa, dog
def: "Junctionalis epidermolysis bullosa that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000342-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011426 {source="OMIA:000342", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa , non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0017612 ! cross-species analog junctional epidermolysis bullosa
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000342-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011549
name: junctionalis epidermolysis bullosa, domestic cat
def: "Junctionalis epidermolysis bullosa that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000342-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011426 {source="OMIA:000342", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa , non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0017612 ! cross-species analog junctional epidermolysis bullosa
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000342-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011550
name: Legg-Calvé-Perthes disease, dog
def: "Legg-Calvé-Perthes disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000586-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011453 {source="OMIA:000586", source="https://orcid.org/0000-0002-5002-8648"} ! Legg-Calvé-Perthes disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0007885 ! cross-species analog Legg-Calve-Perthes disease
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000586-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011551
name: Legg-Calvé-Perthes disease, goat
def: "Legg-Calvé-Perthes disease that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000586-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011453 {source="OMIA:000586", source="https://orcid.org/0000-0002-5002-8648"} ! Legg-Calvé-Perthes disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0007885 ! cross-species analog Legg-Calve-Perthes disease
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000586-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011552
name: Legg-Calvé-Perthes disease, lesser panda
def: "Legg-Calvé-Perthes disease that occurs in lesser panda." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000586-9649 {source="MONDO:equivalentTo"}
is_a: MONDO:1011453 {source="OMIA:000586", source="https://orcid.org/0000-0002-5002-8648"} ! Legg-Calvé-Perthes disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9649 ! Ailurus fulgens
intersection_of: MONDO:0700097 MONDO:0007885 ! cross-species analog Legg-Calve-Perthes disease
relationship: in_taxon NCBITaxon:9649 {source="OMIA:000586-9649", source="https://orcid.org/0000-0002-5002-8648"} ! Ailurus fulgens
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011553
name: Legg-Calvé-Perthes disease, Rhesus monkey
def: "Legg-Calvé-Perthes disease that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000586-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1011453 {source="OMIA:000586", source="https://orcid.org/0000-0002-5002-8648"} ! Legg-Calvé-Perthes disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0007885 ! cross-species analog Legg-Calve-Perthes disease
relationship: in_taxon NCBITaxon:9544 {source="OMIA:000586-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011554
name: ligneous membranitis, dog
def: "Ligneous membranitis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002020-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011459 {source="OMIA:002020", source="https://orcid.org/0000-0002-5002-8648"} ! ligneous membranitis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0100560 ! cross-species analog ligneous conjunctivitis
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002020-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011555
name: mast cell tumor, dog
def: "Mast cell tumor that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001797-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011441 {source="OMIA:001797", source="https://orcid.org/0000-0002-5002-8648"} ! mast cell tumor, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002724 ! cross-species analog mast cell neoplasm
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001797-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011556
name: medium-chain acyl-CoA dehydrogenase deficiency, dog
def: "Medium-chain acyl-CoA dehydrogenase deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002585-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011446 {source="OMIA:002585", source="https://orcid.org/0000-0002-5002-8648"} ! medium-chain acyl-CoA dehydrogenase deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0008721 ! cross-species analog medium chain acyl-CoA dehydrogenase deficiency
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002585-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011557
name: metabolic syndrome, horse
def: "Metabolic syndrome that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001898-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011404 {source="OMIA:001898", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0000816 ! cross-species analog abdominal obesity-metabolic syndrome
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001898-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011558
name: metabolic syndrome, pig
def: "Metabolic syndrome that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001898-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011404 {source="OMIA:001898", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0000816 ! cross-species analog abdominal obesity-metabolic syndrome
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001898-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011559
name: methemoglobinemia, domestic cat
def: "Methemoglobinemia that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001171-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011412 {source="OMIA:001171", source="https://orcid.org/0000-0002-5002-8648"} ! methemoglobinemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001117 ! cross-species analog methemoglobinemia
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001171-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011560
name: nephroma, ducks
def: "Nephroma that occurs in ducks." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001113-8835 {source="MONDO:equivalentTo"}
is_a: MONDO:1011438 {source="OMIA:001113", source="https://orcid.org/0000-0002-5002-8648"} ! nephroma, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8835 ! Anas
intersection_of: MONDO:0700097 MONDO:0850149 ! cross-species analog nephroma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:8835 {source="OMIA:001113-8835", source="https://orcid.org/0000-0002-5002-8648"} ! Anas
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011561
name: neuroaxonal dystrophy, dog
def: "Neuroaxonal dystrophy that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000715-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011444 {source="OMIA:000715", source="https://orcid.org/0000-0002-5002-8648"} ! neuroaxonal dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002283 ! cross-species analog neuroaxonal dystrophy
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000715-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011562
name: neuroaxonal dystrophy, domestic cat
def: "Neuroaxonal dystrophy that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000715-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011444 {source="OMIA:000715", source="https://orcid.org/0000-0002-5002-8648"} ! neuroaxonal dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0002283 ! cross-species analog neuroaxonal dystrophy
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000715-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011563
name: neuroaxonal dystrophy, horse
def: "Neuroaxonal dystrophy that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000715-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011444 {source="OMIA:000715", source="https://orcid.org/0000-0002-5002-8648"} ! neuroaxonal dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0002283 ! cross-species analog neuroaxonal dystrophy
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000715-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011564
name: neuroaxonal dystrophy, rabbit
def: "Neuroaxonal dystrophy that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000715-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011444 {source="OMIA:000715", source="https://orcid.org/0000-0002-5002-8648"} ! neuroaxonal dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0002283 ! cross-species analog neuroaxonal dystrophy
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000715-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011565
name: neuroaxonal dystrophy, sheep
def: "Neuroaxonal dystrophy that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000715-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011444 {source="OMIA:000715", source="https://orcid.org/0000-0002-5002-8648"} ! neuroaxonal dystrophy, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0002283 ! cross-species analog neuroaxonal dystrophy
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000715-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011566
name: neurofibromatosis, cattle
def: "Neurofibromatosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000716-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011437 {source="OMIA:000716", source="https://orcid.org/0000-0002-5002-8648"} ! neurofibromatosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0021061 ! cross-species analog neurofibromatosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000716-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011567
name: neurofibromatosis, teleost fishes
def: "Neurofibromatosis that occurs in teleost fishes." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000716-32443 {source="MONDO:equivalentTo"}
is_a: MONDO:1011437 {source="OMIA:000716", source="https://orcid.org/0000-0002-5002-8648"} ! neurofibromatosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:32443 ! Teleostei
intersection_of: MONDO:0700097 MONDO:0021061 ! cross-species analog neurofibromatosis
relationship: in_taxon NCBITaxon:32443 {source="OMIA:000716-32443", source="https://orcid.org/0000-0002-5002-8648"} ! Teleostei
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011568
name: neuronal ceroid lipofuscinosis, cattle
def: "Neuronal ceroid lipofuscinosis that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000181-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011569
name: neuronal ceroid lipofuscinosis, crab-eating macaque
def: "Neuronal ceroid lipofuscinosis that occurs in crab-eating macaque." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9541 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9541 ! Macaca fascicularis
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9541 {source="OMIA:000181-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca fascicularis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011570
name: neuronal ceroid lipofuscinosis, dog
def: "Neuronal ceroid lipofuscinosis that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000181-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011571
name: neuronal ceroid lipofuscinosis, domestic cat
def: "Neuronal ceroid lipofuscinosis that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000181-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011572
name: neuronal ceroid lipofuscinosis, domestic ferret
def: "Neuronal ceroid lipofuscinosis that occurs in domestic ferret." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9669 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9669 ! Mustela putorius furo
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9669 {source="OMIA:000181-9669", source="https://orcid.org/0000-0002-5002-8648"} ! Mustela putorius furo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011573
name: neuronal ceroid lipofuscinosis, goat
def: "Neuronal ceroid lipofuscinosis that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000181-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011574
name: neuronal ceroid lipofuscinosis, horse
def: "Neuronal ceroid lipofuscinosis that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000181-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011575
name: neuronal ceroid lipofuscinosis, mallard
def: "Neuronal ceroid lipofuscinosis that occurs in mallard." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-8839 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8839 ! Anas platyrhynchos
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:8839 {source="OMIA:000181-8839", source="https://orcid.org/0000-0002-5002-8648"} ! Anas platyrhynchos
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011576
name: neuronal ceroid lipofuscinosis, peach-faced lovebird
def: "Neuronal ceroid lipofuscinosis that occurs in peach-faced lovebird." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-60468 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:60468
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:60468 {source="OMIA:000181-60468", source="https://orcid.org/0000-0002-5002-8648"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011577
name: neuronal ceroid lipofuscinosis, pig
def: "Neuronal ceroid lipofuscinosis that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000181-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011578
name: neuronal ceroid lipofuscinosis, sheep
def: "Neuronal ceroid lipofuscinosis that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000181-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011430 {source="OMIA:000181", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0016295 ! cross-species analog neuronal ceroid lipofuscinosis
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000181-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011579
name: nonspherocytic hemolytic anemia, dog
def: "Nonspherocytic hemolytic anemia that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000433-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011407 {source="OMIA:000433", source="https://orcid.org/0000-0002-5002-8648"} ! nonspherocytic hemolytic anemia, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0000105 ! cross-species analog anemia, nonspherocytic hemolytic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000433-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011580
name: osteogenesis imperfecta, cattle
def: "Osteogenesis imperfecta that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000754-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011454 {source="OMIA:000754", source="https://orcid.org/0000-0002-5002-8648"} ! osteogenesis imperfecta, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019019 ! cross-species analog osteogenesis imperfecta
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000754-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011581
name: osteogenesis imperfecta, dog
def: "Osteogenesis imperfecta that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000754-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011454 {source="OMIA:000754", source="https://orcid.org/0000-0002-5002-8648"} ! osteogenesis imperfecta, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019019 ! cross-species analog osteogenesis imperfecta
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000754-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011582
name: osteogenesis imperfecta, domestic cat
def: "Osteogenesis imperfecta that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000754-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011454 {source="OMIA:000754", source="https://orcid.org/0000-0002-5002-8648"} ! osteogenesis imperfecta, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0019019 ! cross-species analog osteogenesis imperfecta
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000754-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011583
name: osteogenesis imperfecta, sheep
def: "Osteogenesis imperfecta that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000754-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011454 {source="OMIA:000754", source="https://orcid.org/0000-0002-5002-8648"} ! osteogenesis imperfecta, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0019019 ! cross-species analog osteogenesis imperfecta
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000754-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011584
name: paroxysmal nocturnal hemoglobinuria, Rhesus monkey
def: "Paroxysmal nocturnal hemoglobinuria that occurs in Rhesus monkey." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002372-9544 {source="MONDO:equivalentTo"}
is_a: MONDO:1011413 {source="OMIA:002372", source="https://orcid.org/0000-0002-5002-8648"} ! paroxysmal nocturnal hemoglobinuria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9544 ! Macaca mulatta
intersection_of: MONDO:0700097 MONDO:0100244 ! cross-species analog paroxysmal nocturnal hemoglobinuria
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9544 {source="OMIA:002372-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca mulatta
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011585
name: pituitary-dependent hyperadrenocorticism, dog
def: "Pituitary-dependent hyperadrenocorticism that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000247-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011400 {source="OMIA:000247", source="https://orcid.org/0000-0002-5002-8648"} ! pituitary-dependent hyperadrenocorticism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0009050 ! cross-species analog Cushing disease due to pituitary adenoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000247-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011586
name: pituitary-dependent hyperadrenocorticism, domestic cat
def: "Pituitary-dependent hyperadrenocorticism that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000247-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011400 {source="OMIA:000247", source="https://orcid.org/0000-0002-5002-8648"} ! pituitary-dependent hyperadrenocorticism, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0009050 ! cross-species analog Cushing disease due to pituitary adenoma
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000247-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011587
name: porphyria, domestic cat
def: "Porphyria that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000815-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011418 {source="OMIA:000815", source="https://orcid.org/0000-0002-5002-8648"} ! porphyria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0037939 ! cross-species analog porphyria
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000815-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011588
name: porphyria, pig
def: "Porphyria that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000815-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011418 {source="OMIA:000815", source="https://orcid.org/0000-0002-5002-8648"} ! porphyria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0037939 ! cross-species analog porphyria
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000815-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011589
name: portosystemic shunt, cattle
def: "Portosystemic shunt that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000817-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011409 {source="OMIA:000817", source="https://orcid.org/0000-0002-5002-8648"} ! portosystemic shunt, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0018811 ! cross-species analog congenital portosystemic shunt
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000817-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011590
name: portosystemic shunt, dog
def: "Portosystemic shunt that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000817-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011409 {source="OMIA:000817", source="https://orcid.org/0000-0002-5002-8648"} ! portosystemic shunt, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0018811 ! cross-species analog congenital portosystemic shunt
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000817-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011591
name: portosystemic shunt, domestic cat
def: "Portosystemic shunt that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000817-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011409 {source="OMIA:000817", source="https://orcid.org/0000-0002-5002-8648"} ! portosystemic shunt, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018811 ! cross-species analog congenital portosystemic shunt
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000817-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011592
name: portosystemic shunt, horse
def: "Portosystemic shunt that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000817-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011409 {source="OMIA:000817", source="https://orcid.org/0000-0002-5002-8648"} ! portosystemic shunt, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0018811 ! cross-species analog congenital portosystemic shunt
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000817-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011593
name: portosystemic shunt, pig
def: "Portosystemic shunt that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000817-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011409 {source="OMIA:000817", source="https://orcid.org/0000-0002-5002-8648"} ! portosystemic shunt, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0018811 ! cross-species analog congenital portosystemic shunt
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000817-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011594
name: rickets, horse
def: "Rickets that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002364-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011456 {source="OMIA:002364", source="https://orcid.org/0000-0002-5002-8648"} ! rickets, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0005520 ! cross-species analog rickets
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002364-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011595
name: rickets, pig
def: "Rickets that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002364-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011456 {source="OMIA:002364", source="https://orcid.org/0000-0002-5002-8648"} ! rickets, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005520 ! cross-species analog rickets
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002364-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011596
name: severe combined immunodeficiency disease, dog
def: "Severe combined immunodeficiency disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000220-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011422 {source="OMIA:000220", source="https://orcid.org/0000-0002-5002-8648"} ! severe combined immunodeficiency disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0015974 ! cross-species analog severe combined immunodeficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000220-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011597
name: severe combined immunodeficiency disease, horse
def: "Severe combined immunodeficiency disease that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000220-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011422 {source="OMIA:000220", source="https://orcid.org/0000-0002-5002-8648"} ! severe combined immunodeficiency disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0015974 ! cross-species analog severe combined immunodeficiency
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000220-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011598
name: type 1 diabetes mellitus, cattle
def: "Type 1 diabetes mellitus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000283-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011401 {source="OMIA:000283", source="https://orcid.org/0000-0002-5002-8648"} ! type 1 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0005147 ! cross-species analog type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000283-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011599
name: type 1 diabetes mellitus, chimpanzee
def: "Type 1 diabetes mellitus that occurs in chimpanzee." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000283-9598 {source="MONDO:equivalentTo"}
is_a: MONDO:1011401 {source="OMIA:000283", source="https://orcid.org/0000-0002-5002-8648"} ! type 1 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9598 ! Pan troglodytes
intersection_of: MONDO:0700097 MONDO:0005147 ! cross-species analog type 1 diabetes mellitus
relationship: in_taxon NCBITaxon:9598 {source="OMIA:000283-9598", source="https://orcid.org/0000-0002-5002-8648"} ! Pan troglodytes
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011600
name: type 1 diabetes mellitus, domestic cat
def: "Type 1 diabetes mellitus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000283-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011401 {source="OMIA:000283", source="https://orcid.org/0000-0002-5002-8648"} ! type 1 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005147 ! cross-species analog type 1 diabetes mellitus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000283-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011601
name: type 1 diabetes mellitus, domestic guinea pig
def: "Type 1 diabetes mellitus that occurs in domestic guinea pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000283-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1011401 {source="OMIA:000283", source="https://orcid.org/0000-0002-5002-8648"} ! type 1 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10141 ! Cavia porcellus
intersection_of: MONDO:0700097 MONDO:0005147 ! cross-species analog type 1 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000283-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011602
name: type 2 diabetes mellitus, Chinese hamster
def: "Type 2 diabetes mellitus that occurs in Chinese hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000284-10029 {source="MONDO:equivalentTo"}
is_a: MONDO:1011402 {source="OMIA:000284", source="https://orcid.org/0000-0002-5002-8648"} ! type 2 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10029 ! Cricetulus griseus
intersection_of: MONDO:0700097 MONDO:0005148 ! cross-species analog type 2 diabetes mellitus
relationship: in_taxon NCBITaxon:10029 {source="OMIA:000284-10029", source="https://orcid.org/0000-0002-5002-8648"} ! Cricetulus griseus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011603
name: type 2 diabetes mellitus, crab-eating macaque
def: "Type 2 diabetes mellitus that occurs in crab-eating macaque." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000284-9541 {source="MONDO:equivalentTo"}
is_a: MONDO:1011402 {source="OMIA:000284", source="https://orcid.org/0000-0002-5002-8648"} ! type 2 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9541 ! Macaca fascicularis
intersection_of: MONDO:0700097 MONDO:0005148 ! cross-species analog type 2 diabetes mellitus
relationship: in_taxon NCBITaxon:9541 {source="OMIA:000284-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca fascicularis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011604
name: type 2 diabetes mellitus, domestic cat
def: "Type 2 diabetes mellitus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000284-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011402 {source="OMIA:000284", source="https://orcid.org/0000-0002-5002-8648"} ! type 2 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0005148 ! cross-species analog type 2 diabetes mellitus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000284-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011605
name: type 2 diabetes mellitus, pig
def: "Type 2 diabetes mellitus that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000284-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011402 {source="OMIA:000284", source="https://orcid.org/0000-0002-5002-8648"} ! type 2 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0005148 ! cross-species analog type 2 diabetes mellitus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000284-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011606
name: vestibular disease, dog
def: "Vestibular disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002263-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011414 {source="OMIA:002263", source="https://orcid.org/0000-0002-5002-8648"} ! vestibular disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0002643 ! cross-species analog vestibular disorder
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002263-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011607
name: vestibular disease, Sumatran tiger
def: "Vestibular disease that occurs in Sumatran tiger." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002263-9695 {source="MONDO:equivalentTo"}
is_a: MONDO:1011414 {source="OMIA:002263", source="https://orcid.org/0000-0002-5002-8648"} ! vestibular disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9695 ! Panthera tigris sumatrae
intersection_of: MONDO:0700097 MONDO:0002643 ! cross-species analog vestibular disorder
relationship: in_taxon NCBITaxon:9695 {source="OMIA:002263-9695", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera tigris sumatrae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011608
name: vitamin-K-dependent blood coagulation factors deficiency, dog
def: "Vitamin-K-dependent blood coagulation factors deficiency that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001054-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011410 {source="OMIA:001054", source="https://orcid.org/0000-0002-5002-8648"} ! vitamin-K-dependent blood coagulation factors deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0015722 ! cross-species analog congenital vitamin K-dependent coagulation factors deficiency
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001054-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011609
name: vitamin-K-dependent blood coagulation factors deficiency, domestic cat
def: "Vitamin-K-dependent blood coagulation factors deficiency that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001054-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011410 {source="OMIA:001054", source="https://orcid.org/0000-0002-5002-8648"} ! vitamin-K-dependent blood coagulation factors deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0015722 ! cross-species analog congenital vitamin K-dependent coagulation factors deficiency
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001054-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011610
name: vitamin-K-dependent blood coagulation factors deficiency, sheep
def: "Vitamin-K-dependent blood coagulation factors deficiency that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001054-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011410 {source="OMIA:001054", source="https://orcid.org/0000-0002-5002-8648"} ! vitamin-K-dependent blood coagulation factors deficiency, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0015722 ! cross-species analog congenital vitamin K-dependent coagulation factors deficiency
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001054-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011611
name: Von Willebrand disease, cattle
def: "Von Willebrand disease that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001056-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011411 {source="OMIA:001056", source="https://orcid.org/0000-0002-5002-8648"} ! Von Willebrand disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0024574 ! cross-species analog von Willebrand disease (hereditary or acquired)
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001056-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011612
name: Von Willebrand disease, dog
def: "Von Willebrand disease that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001056-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011411 {source="OMIA:001056", source="https://orcid.org/0000-0002-5002-8648"} ! Von Willebrand disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0024574 ! cross-species analog von Willebrand disease (hereditary or acquired)
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001056-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011613
name: Von Willebrand disease, domestic cat
def: "Von Willebrand disease that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001056-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011411 {source="OMIA:001056", source="https://orcid.org/0000-0002-5002-8648"} ! Von Willebrand disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0024574 ! cross-species analog von Willebrand disease (hereditary or acquired)
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001056-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011614
name: Von Willebrand disease, horse
def: "Von Willebrand disease that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001056-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011411 {source="OMIA:001056", source="https://orcid.org/0000-0002-5002-8648"} ! Von Willebrand disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0024574 ! cross-species analog von Willebrand disease (hereditary or acquired)
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001056-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011615
name: Von Willebrand disease, pig
def: "Von Willebrand disease that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001056-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011411 {source="OMIA:001056", source="https://orcid.org/0000-0002-5002-8648"} ! Von Willebrand disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0024574 ! cross-species analog von Willebrand disease (hereditary or acquired)
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001056-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011616
name: Von Willebrand disease, rabbit
def: "Von Willebrand disease that occurs in rabbit." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001056-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011411 {source="OMIA:001056", source="https://orcid.org/0000-0002-5002-8648"} ! Von Willebrand disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9986 ! Oryctolagus cuniculus
intersection_of: MONDO:0700097 MONDO:0024574 ! cross-species analog von Willebrand disease (hereditary or acquired)
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001056-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011617
name: Waardenburg syndrome, domestic cat
def: "Waardenburg syndrome that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001059-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011447 {source="OMIA:001059", source="https://orcid.org/0000-0002-5002-8648"} ! Waardenburg syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0018094 ! cross-species analog Waardenburg syndrome
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001059-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011618
name: Waardenburg syndrome, golden hamster
def: "Waardenburg syndrome that occurs in golden hamster." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001059-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1011447 {source="OMIA:001059", source="https://orcid.org/0000-0002-5002-8648"} ! Waardenburg syndrome, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10036 ! Mesocricetus auratus
intersection_of: MONDO:0700097 MONDO:0018094 ! cross-species analog Waardenburg syndrome
relationship: in_taxon NCBITaxon:10036 {source="OMIA:001059-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011619
name: Wilms tumor, cattle
def: "Wilms tumour that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001142-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011439 {source="OMIA:001142", source="https://orcid.org/0000-0002-5002-8648"} ! Wilms tumor, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0019004 ! cross-species analog kidney Wilms tumor
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001142-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011620
name: Wilms tumor, dog
def: "Wilms tumour that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001142-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011439 {source="OMIA:001142", source="https://orcid.org/0000-0002-5002-8648"} ! Wilms tumor, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0019004 ! cross-species analog kidney Wilms tumor
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001142-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011621
name: Wilms tumor, pig
def: "Wilms tumour that occurs in pig." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001142-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011439 {source="OMIA:001142", source="https://orcid.org/0000-0002-5002-8648"} ! Wilms tumor, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0019004 ! cross-species analog kidney Wilms tumor
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001142-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011622
name: Wilms tumor, sheep
def: "Wilms tumour that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001142-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011439 {source="OMIA:001142", source="https://orcid.org/0000-0002-5002-8648"} ! Wilms tumor, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0019004 ! cross-species analog kidney Wilms tumor
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001142-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011623
name: xanthinuria, dog
def: "Xanthinuria that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001283-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011450 {source="OMIA:001283", source="https://orcid.org/0000-0002-5002-8648"} ! xanthinuria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0000721 ! cross-species analog xanthinuria
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001283-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011624
name: xanthinuria, domestic cat
def: "Xanthinuria that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001283-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011450 {source="OMIA:001283", source="https://orcid.org/0000-0002-5002-8648"} ! xanthinuria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0000721 ! cross-species analog xanthinuria
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001283-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011625
name: xanthinuria, goat
def: "Xanthinuria that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001283-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011450 {source="OMIA:001283", source="https://orcid.org/0000-0002-5002-8648"} ! xanthinuria, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0000721 ! cross-species analog xanthinuria
relationship: in_taxon NCBITaxon:9925 {source="OMIA:001283-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011626
name: hyperkinesis, non-human animal
xref: OMIA:000503 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000503"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000503", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011627
name: myoclonus epilepsy of Lafora, non-human animal
xref: OMIA:000690 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000690"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000690", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011628
name: paroxysm, non-human animal
xref: OMIA:000772 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000772"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000772", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011629
name: quaking, non-human animal
xref: OMIA:000846 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000846"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000846", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011630
name: congenital lethal spasms, non-human animal
xref: OMIA:000927 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000927"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000927", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011631
name: stringhalt, non-human animal
xref: OMIA:000950 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000950"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000950", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011632
name: tetanic torticollar spasms, non-human animal
xref: OMIA:000993 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000993"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000993", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011633
name: progressive ataxia, non-human animal
xref: OMIA:001091 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001091"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001091", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011634
name: self-mutilation syndrome, non-human animal
xref: OMIA:001161 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001161"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001161", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011635
name: familial convulsions and ataxia, non-human animal
xref: OMIA:001270 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001270"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001270", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011636
name: compulsive disorder, non-human animal
xref: OMIA:001530 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001530"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001530", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011637
name: juvenile idiopathic epilepsy, non-human animal
xref: OMIA:001757 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001757"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001757", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011638
name: attention deficit hyperactivity disorder, non-human animal
xref: OMIA:001882 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001882"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001882", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011639
name: generalized myoclonic epilepsy with photosensitivity, non-human animal
xref: OMIA:002095 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002095"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:002095", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011640
name: atrial septal defect and atrial fibrillation, non-human animal
xref: OMIA:000090 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000090"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:000090", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011641
name: cardiomyopathy and woolly haircoat syndrome, non-human animal
xref: OMIA:000161 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000161"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:000161", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011642
name: spontaneous cardiomyopathy, non-human animal
xref: OMIA:000164 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000164"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:000164", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011643
name: mitral valve disease, non-human animal
xref: OMIA:000654 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000654"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:000654", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011644
name: persistent right aortic arch, non-human animal
xref: OMIA:000794 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000794"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:000794", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011645
name: ventricular arrhythmias and sudden death, non-human animal
xref: OMIA:001040 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001040"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:001040", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011646
name: persistent truncus arteriosus with ventricular septal defect and patent foramen ovale, non-human animal
xref: OMIA:001218 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001218"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:001218", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011647
name: chronic valvular disease, non-human animal
xref: OMIA:001246 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001246"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:001246", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011648
name: familial thoracic aortic aneurysm, non-human animal
xref: OMIA:001419 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001419"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:001419", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011649
name: persistent right aortic arch with subclavian artery and ligamentum arteriosum, non-human animal
xref: OMIA:001570 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001570"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:001570", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011650
name: pentalogy of Fallot, non-human animal
xref: OMIA:001857 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001857"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:001857", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011651
name: cardiomyopathy and juvenile mortality, non-human animal
xref: OMIA:002256 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002256"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:002256", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011652
name: mitral valve dysplasia, non-human animal
xref: OMIA:002521 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002521"} ! non-human animal disease
is_a: MONDO:1011306 {source="OMIA:002521", source="https://orcid.org/0000-0002-5002-8648"} ! cardiovascular disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011653
name: craniomandibular osteopathy, non-human animal
xref: OMIA:000236 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000236"} ! non-human animal disease
is_a: MONDO:1011335 {source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011654
name: facial digital syndrome, non-human animal
xref: OMIA:000360 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000360"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011655
name: polled and multisystemic syndrome, non-human animal
xref: OMIA:001736 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001736"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011656
name: facial dysplasia syndrome, non-human animal
xref: OMIA:002090 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002090"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011657
name: goldenhar syndrome, non-human animal
xref: OMIA:002136 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002136"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011658
name: calvarial hyperostotic syndrome, non-human animal
xref: OMIA:002245 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002245"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011659
name: gastric dilatation volvulus syndrome, non-human animal
xref: OMIA:000404 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000404"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:000404", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011660
name: megaesophagus, non-human animal
xref: OMIA:000631 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000631"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011661
name: esophageal motility disorder, non-human animal
xref: OMIA:000738 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000738"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:000738", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011662
name: stomach ulcer, non-human animal
xref: OMIA:001027 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001027"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:001027", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0001126 ! cross-species analog gastric ulcer
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011663
name: displaced abomasum, non-human animal
xref: OMIA:001119 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001119"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:001119", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011664
name: gluten-sensitive enteropathy, non-human animal
xref: OMIA:001261 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001261"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:001261", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011665
name: anal furunculosis, non-human animal
xref: OMIA:001589 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001589"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:001589", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011666
name: non-specific digestive disorder, non-human animal
xref: OMIA:001768 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001768"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:001768", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011667
name: Lundehund syndrome, non-human animal
xref: OMIA:002031 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002031"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:002031", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011668
name: perosomus elumbis, non-human animal
xref: OMIA:000789 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000789"} ! non-human animal disease
is_a: MONDO:1011313 {source="OMIA:000789", source="https://orcid.org/0000-0002-5002-8648"} ! disorder of development or morphogenesis, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011669
name: spina bifida with myelomeningocele, non-human animal
xref: OMIA:000935 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000935"} ! non-human animal disease
is_a: MONDO:1011313 {source="OMIA:000935", source="https://orcid.org/0000-0002-5002-8648"} ! disorder of development or morphogenesis, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011670
name: spina bifida with raduschisis, non-human animal
xref: OMIA:000936 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000936"} ! non-human animal disease
is_a: MONDO:1011313 {source="OMIA:000936", source="https://orcid.org/0000-0002-5002-8648"} ! disorder of development or morphogenesis, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011671
name: spinal dysraphism, non-human animal
xref: OMIA:000938 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000938"} ! non-human animal disease
is_a: MONDO:1011313 {source="OMIA:000938", source="https://orcid.org/0000-0002-5002-8648"} ! disorder of development or morphogenesis, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011672
name: hydrallantois, non-human animal
xref: OMIA:002053 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002053"} ! non-human animal disease
is_a: MONDO:1011313 {source="OMIA:002053", source="https://orcid.org/0000-0002-5002-8648"} ! disorder of development or morphogenesis, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011673
name: spontaneous autoimmune thyroiditis, non-human animal
xref: OMIA:000097 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000097"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:000097", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011674
name: hyperosmolar nonketotic diabetes mellitus, non-human animal
xref: OMIA:000280 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000280"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:000280", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011675
name: hypoadrenocorticism, non-human animal
xref: OMIA:000519 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000519"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:000519", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011676
name: primary hypoadrenocorticism, non-human animal
xref: OMIA:000520 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000520"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:000520", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011677
name: congenital hypoplasia of mammary gland, non-human animal
xref: OMIA:000529 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000529"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:000529", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011678
name: primary hypothyroidism, non-human animal
xref: OMIA:000538 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000538"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:000538", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011679
name: hereditary pancreatitis, non-human animal
xref: OMIA:001403 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001403"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:001403", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011680
name: postpartum dysgalactia syndrome, non-human animal
xref: OMIA:001822 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001822"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:001822", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011681
name: ACTH-independent adrenal Cushing syndrome, non-human animal
xref: OMIA:001937 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001937"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:001937", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011682
name: anal gland disease, non-human animal
xref: OMIA:002523 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002523"} ! non-human animal disease
is_a: MONDO:1011317 {source="OMIA:002523", source="https://orcid.org/0000-0002-5002-8648"} ! endocrine system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011683
name: caprine-like generalized hypoplasia syndrome, non-human animal
xref: OMIA:001502 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001502"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011684
name: alloimmune hemolytic anemia of the newborn, non-human animal
xref: OMIA:000028 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000028"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000028", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011685
name: bleeding disorder, non-human animal
synonym: "bleeding diathesis, non-human animal" EXACT [OMIA:000112]
xref: OMIA:000112 {source="MONDO:equivalentTo"}
xref: OMIA:000113 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
is_a: MONDO:0005583 {source="OMIA:000112", source="OMIA:000113"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000112", source="OMIA:000113", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011686
name: contact activation defect, non-human animal
xref: OMIA:000225 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000225"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000225", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011687
name: cyclic neutropenia, non-human animal
xref: OMIA:000248 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000248"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000248", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011688
name: congenital dyserythropoietic anemia with dyskeratosis and progressive alopecia, non-human animal
xref: OMIA:000313 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000313"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000313", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011689
name: hemolytic anemia, non-human animal
xref: OMIA:000430 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000430"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000430", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011690
name: primary autoimmune hemolytic anemia, non-human animal
xref: OMIA:000434 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000434"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000434", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011691
name: platelet function defect, non-human animal
xref: OMIA:000803 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000803"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000803", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011692
name: protein C deficiency, non-human animal
xref: OMIA:000835 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000835"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000835", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011693
name: reduced glutathione deficiency due to GCS deficiency, non-human animal
xref: OMIA:000853 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000853"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:000853", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
is_a: MONDO:1011699 {source="https://orcid.org/0000-0002-5002-8648"} ! reduced glutathione deficiency, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011694
name: thrombasthenia, non-human animal
xref: OMIA:001000 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001000"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001000", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011695
name: thrombopathia, non-human animal
xref: OMIA:001003 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001003"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001003", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011696
name: stomatocytosis and gastrits, non-human animal
xref: OMIA:001178 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001178"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001178", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011697
name: hemophagocytic syndrome, non-human animal
xref: OMIA:001229 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001229"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001229", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011698
name: reduced glutathione deficiency due to amino-acid transport defect, non-human animal
xref: OMIA:001234 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001234"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001234", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
is_a: MONDO:1011699 {source="https://orcid.org/0000-0002-5002-8648"} ! reduced glutathione deficiency, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011699
name: reduced glutathione deficiency, non-human animal
xref: OMIA:001235 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001235"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001235", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011700
name: trapped neutrophil syndrome, non-human animal
xref: OMIA:001428 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001428"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001428", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011701
name: combined deficiency of factors IX and XII, non-human animal
xref: OMIA:001526 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001526"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001526", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011702
name: neonatal pancytopenia, non-human animal
xref: OMIA:001539 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001539"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001539", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011703
name: selective ADP deficiency, non-human animal
xref: OMIA:001792 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001792"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001792", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011704
name: exercise-induced pulmonary hemorrhage, non-human animal
xref: OMIA:001896 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001896"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001896", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011705
name: combined deficiency of factors VIII, IX, and X, non-human animal
xref: OMIA:001983 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001983"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:001983", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011706
name: atypical thrombasthenia, non-human animal
xref: OMIA:002272 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002272"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:002272", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011707
name: congenital dyserythropoietic anemia, non-human animal
xref: OMIA:002300 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002300"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:002300", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011708
name: dyserythropoietic anemia and myopathy syndrome, non-human animal
xref: OMIA:002564 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002564"} ! non-human animal disease
is_a: MONDO:1011319 {source="OMIA:002564", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011709
name: ear necrosis syndrome, non-human animal
xref: OMIA:001711 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001711"} ! non-human animal disease
is_a: MONDO:1011301 {source="OMIA:001711", source="https://orcid.org/0000-0002-5002-8648"} ! auditory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011710
name: bilateral deafness and vestibular dysfunction, non-human animal
xref: OMIA:002148 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002148"} ! non-human animal disease
is_a: MONDO:1011301 {source="OMIA:002148", source="https://orcid.org/0000-0002-5002-8648"} ! auditory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011711
name: unilateral deafness and vestibular dysfunction, non-human animal
xref: OMIA:002196 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002196"} ! non-human animal disease
is_a: MONDO:1011301 {source="OMIA:002196", source="https://orcid.org/0000-0002-5002-8648"} ! auditory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011712
name: alloxan-diabetes, non-human animal
xref: OMIA:000029 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000029"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:000029", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011713
name: malignant hyperthermia, non-human animal
xref: OMIA:000621 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000621"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011714
name: hypocatalasia, non-human animal
xref: OMIA:001138 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001138"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:001138", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011715
name: pseudocholinesterase deficiency, non-human animal
xref: OMIA:001205 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001205"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:001205", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011716
name: hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, non-human animal
xref: OMIA:001290 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001290"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:001290", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011717
name: pulmonary hypoplasia with anasarca, non-human animal
xref: OMIA:001562 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001562"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:001562", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011718
name: Kurosawa and Kusanagi hypercholesterolaemia, non-human animal
xref: OMIA:001567 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001567"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:001567", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011719
name: intestinal cobalamin (vitamin B12) malabsorption, non-human animal
xref: OMIA:001791 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001791"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:001791", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011720
name: subclinical hypocalcemia, non-human animal
xref: OMIA:002048 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002048"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:002048", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011721
name: subclinical hypomagnesemia, non-human animal
xref: OMIA:002050 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002050"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:002050", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011722
name: cytochrome B-related exercise intolerance, non-human animal
xref: OMIA:002407 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002407"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:002407", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011723
name: mitochondrial fission encephalopathy, non-human animal
xref: OMIA:002551 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002551"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:002551", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011724
name: immunodeficiency disease, non-human animal
xref: OMIA:000550 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000550"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:000550", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011725
name: immunoglobulin 7S deficiency, non-human animal
xref: OMIA:000551 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000551"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:000551", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011726
name: immunoglobulin A deficiency, non-human animal
xref: OMIA:000552 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000552"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:000552", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011727
name: immunoglobulin G deficiency, non-human animal
xref: OMIA:000554 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000554"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:000554", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011728
name: immunoglobulin G2 deficiency, non-human animal
xref: OMIA:000555 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000555"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:000555", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011729
name: immunoglobulin M deficiency, non-human animal
xref: OMIA:000556 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000556"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:000556", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011730
name: complement component 4 deficiency, non-human animal
synonym: "C4 deficiency, non-human animal" EXACT [OMIA:001626]
xref: OMIA:001626 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001626"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:001626", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011731
name: multiple autoimmune diseases syndrome, non-human animal
xref: OMIA:001808 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001808"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:001808", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011732
name: autosomal T cell-negative, B cell-negative, NK cell-positive severe combined immunodeficiency disease with sensitivity to ionizing radiation, non-human animal
xref: OMIA:001986 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001986"} ! non-human animal disease
is_a: MONDO:0700106 {source="OMIA:001986", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011733
name: atopy, non-human animal
xref: OMIA:000082 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000082"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:000082", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011734
name: black hair follicular dysplasia, non-human animal
xref: OMIA:000110 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000110"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:000110", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011735
name: dermal allergy, non-human animal
xref: OMIA:000268 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000268"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:000268", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011736
name: dermatosis vegetans, non-human animal
xref: OMIA:000271 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000271"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:000271", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011737
name: dystrophic epidermolysis bullosa, non-human animal
xref: OMIA:000341 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000341"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:000341", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011738
name: focal metatarsal fistula, non-human animal
xref: OMIA:000389 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000389"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:000389", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011739
name: congenital hypotrichosis with thymic aplasia, non-human animal
xref: OMIA:000544 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000544"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:000544", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011740
name: primary seborrhea-oleosa, non-human animal
xref: OMIA:000822 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000822"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:000822", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011741
name: cutaneous papillomatosis, non-human animal
xref: OMIA:001147 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001147"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001147", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011742
name: congenital erythropoietic porphyria, non-human animal
xref: OMIA:001175 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001175"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001175", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011743
name: nodular dermatofibrosis and kidney disease, non-human animal
xref: OMIA:001195 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001195"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001195", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011744
name: cutaneous and renal vasculopathy, non-human animal
xref: OMIA:001220 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001220"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001220", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011745
name: comedo syndrome, non-human animal
xref: OMIA:001272 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001272"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001272", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011746
name: facial eczema, non-human animal
xref: OMIA:001276 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001276"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001276", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011747
name: recessive hypotrichosis, non-human animal
xref: OMIA:001279 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001279"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001279", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011748
name: urticaria pigmentosa, non-human animal
xref: OMIA:001289 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001289"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001289", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011749
name: linear IgA disease, non-human animal
xref: OMIA:001330 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001330"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001330", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011750
name: follicular dysplasia and interface dermatitis, non-human animal
xref: OMIA:001369 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001369"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001369", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011751
name: acrochordonous plaque, non-human animal
xref: OMIA:001370 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001370"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001370", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011752
name: nasal parakeratosis, non-human animal
xref: OMIA:001373 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001373"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001373", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011753
name: juvenile with age-dependent emphysema hypotrichosis, non-human animal
xref: OMIA:001458 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001458"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001458", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011754
name: reactive perforating collagenosis, non-human animal
xref: OMIA:001476 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001476"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001476", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011755
name: sebaceous adenitis, non-human animal
xref: OMIA:001563 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001563"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001563", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011756
name: exfoliative cutaneous lupus erythematosus, non-human animal
xref: OMIA:001609 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001609"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001609", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011757
name: sebaceous gland dysplasia, non-human animal
xref: OMIA:001710 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001710"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001710", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011758
name: zinc deficiency-like syndrome, non-human animal
xref: OMIA:001935 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001935"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001935", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011759
name: hypotrichosis with short life expectancy, non-human animal
xref: OMIA:001949 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001949"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001949", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011760
name: symmetrical onychomadesis, non-human animal
xref: OMIA:001989 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001989"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:001989", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011761
name: naked foal syndrome, non-human animal
xref: OMIA:002096 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002096"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:002096", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011762
name: verrucous epidermal keratinocytic nevi, non-human animal
xref: OMIA:002117 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002117"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:002117", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011763
name: lethal acrodermatitis, non-human animal
xref: OMIA:002146 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002146"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:002146", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011764
name: ichthyosis fetalis, non-human animal
xref: OMIA:002193 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002193"} ! non-human animal disease
is_a: MONDO:1011328 {source="OMIA:002193", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011765
name: micromelia, non-human animal
xref: OMIA:000648 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000648"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000648", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011766
name: warts between hooves, non-human animal
xref: OMIA:001060 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001060"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001060", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011767
name: laminitis, non-human animal
xref: OMIA:001225 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001225"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001225", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011768
name: bone spavin, non-human animal
xref: OMIA:001232 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001232"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001232", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011769
name: dysplasia epiphysealis hememelica, non-human animal
xref: OMIA:001361 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001361"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001361", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011770
name: necrosis of digits, non-human animal
xref: OMIA:001665 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001665"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001665", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011771
name: medial coronoid disease, non-human animal
xref: OMIA:001863 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001863"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001863", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011772
name: hoof wall separation syndrome, non-human animal
xref: OMIA:001897 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001897"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001897", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011773
name: degenerative suspensory ligament desmitis, non-human animal
xref: OMIA:002086 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002086"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:002086", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011774
name: digital dermatitis, non-human animal
xref: OMIA:002224 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002224"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:002224", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011775
name: idiopathic hepatic fibrosis, non-human animal
xref: OMIA:000454 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000454"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:000454", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011776
name: inborn error of hepatic metabolism, non-human animal
xref: OMIA:000561 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000561"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:000561", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011777
name: portosystemic hepatic encephalopathy, non-human animal
xref: OMIA:000816 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000816"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:000816", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011778
name: chronic active hepatitis, non-human animal
xref: OMIA:001093 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001093"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:001093", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011779
name: neonatal hepatitis, non-human animal
xref: OMIA:001094 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001094"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:001094", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011780
name: gallbladder mucocele, non-human animal
xref: OMIA:001524 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001524"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:001524", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011781
name: congential hepatic fibrosis, non-human animal
xref: OMIA:002392 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002392"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:002392", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011782
name: hepatocellular fibrinogen storage disease, non-human animal
xref: OMIA:002582 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002582"} ! non-human animal disease
is_a: MONDO:1011311 {source="OMIA:002582", source="https://orcid.org/0000-0002-5002-8648"} ! digestive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011783
name: alpha fucosidosis, non-human animal
xref: OMIA:000396 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000396"} ! non-human animal disease
is_a: MONDO:1011331 {source="OMIA:000396", source="https://orcid.org/0000-0002-5002-8648"} ! metabolic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011784
name: premature senesence, non-human animal
xref: OMIA:001213 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001213"} ! non-human animal disease
is_a: MONDO:1011350 {source="OMIA:001213", source="https://orcid.org/0000-0002-5002-8648"} ! premature aging syndrome, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011785
name: lethal multi-organ developmental dysplasia, non-human animal
xref: OMIA:001722 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001722"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011786
name: perinatal weak calf syndrome, non-human animal
xref: OMIA:001817 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001817"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011787
name: degenerative myopathy of deep pectoral muscle, non-human animal
xref: OMIA:000264 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000264"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000264", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011788
name: degenerative myopathy of obturator-externus, non-human animal
xref: OMIA:000265 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000265"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000265", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011789
name: fibrodysplasia ossificans, non-human animal
xref: OMIA:000388 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000388"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000388", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011790
name: dysphagia-associated muscular dystrophy, non-human animal
xref: OMIA:000681 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000681"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000681", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011791
name: mitochondrial myopathy, non-human animal
xref: OMIA:000695 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000695"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000695", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011792
name: subacute progressive myopathy, non-human animal
xref: OMIA:000696 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000696"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000696", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011793
name: progressive myopathy, non-human animal
xref: OMIA:000829 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000829"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000829", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011794
name: spastic lameness, non-human animal
xref: OMIA:000926 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000926"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000926", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011795
name: masticatory muscle myositis, non-human animal
xref: OMIA:001134 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001134"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001134", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011796
name: high-frequency tremor, non-human animal
xref: OMIA:001200 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001200"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001200", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011797
name: myopathy of the diaphragmatic muscles, non-human animal
xref: OMIA:001319 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001319"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001319", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011798
name: forelimb-girdle muscular anomaly, non-human animal
xref: OMIA:001442 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001442"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001442", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011799
name: inherited periodic spasticity, non-human animal
xref: OMIA:001453 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001453"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001453", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011800
name: contractural arachnodactyly, non-human animal
xref: OMIA:001511 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001511"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001511", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011801
name: type 2 polysaccharide storage myopathy, non-human animal
xref: OMIA:001537 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001537"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001537", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011802
name: congenital merosin-deficient muscular dystrophy, non-human animal
xref: OMIA:001619 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001619"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001619", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011803
name: muscular dystrophy-dystroglycanopathy (limb-girdle), non-human animal
xref: OMIA:001621 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001621"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001621", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011804
name: congenital myopathy with fiber-type disproportion, non-human animal
xref: OMIA:001796 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001796"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001796", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011805
name: exercise induced metabolic myopathy, non-human animal
xref: OMIA:002140 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002140"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:002140", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011806
name: immune-mediated myositis, non-human animal
xref: OMIA:002141 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002141"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:002141", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011807
name: atypical myopathy, non-human animal
xref: OMIA:002480 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002480"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:002480", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011808
name: Hodgkin disease, non-human animal
xref: OMIA:000476 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000476"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:000476", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011809
name: multiple lipomatosis, non-human animal
xref: OMIA:000606 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000606"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:000606", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011810
name: megakaryoblastic leukemia, non-human animal
xref: OMIA:000630 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000630"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:000630", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011811
name: congenital melanoma, non-human animal
xref: OMIA:000634 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000634"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:000634", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011812
name: ocular squamous cell carcinoma, non-human animal
xref: OMIA:000735 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000735"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:000735", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011813
name: sarcoid, non-human animal
xref: OMIA:000888 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000888"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:000888", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011814
name: melanoblastoma, non-human animal
xref: OMIA:001324 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001324"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001324", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011815
name: renal cystadenocarcinoma and nodular dermatofibrosis, non-human animal
xref: OMIA:001335 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001335"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001335", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011816
name: lymphoproliferative disease, non-human animal
xref: OMIA:001409 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001409"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001409", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011817
name: anal sac gland carcinoma, non-human animal
xref: OMIA:001500 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001500"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001500", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011818
name: invasive transitional cell carcinoma, non-human animal
xref: OMIA:001512 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001512"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001512", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011819
name: chronic myelogenous leukemia, non-human animal
xref: OMIA:001513 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001513"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001513", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011820
name: colorectal hamartomatous polyposis and ganglioneuromatosis, non-human animal
xref: OMIA:001515 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001515"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001515", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011821
name: malignant melanoma, non-human animal
xref: OMIA:001724 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001724"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001724", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011822
name: squamous cell carcinoma of the digit, non-human animal
xref: OMIA:001787 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001787"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001787", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011823
name: hemangiosarcoma, non-human animal
xref: OMIA:001813 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001813"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011824
name: horn cancer, non-human animal
xref: OMIA:001859 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001859"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:001859", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011825
name: choroid plexus tumour, non-human animal
xref: OMIA:002403 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002403"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:002403", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011826
name: dysplastic gangliocytoma of the cerebellum, non-human animal
xref: OMIA:002529 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002529"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:002529", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011827
name: congenital mast cell tumor, non-human animal
xref: OMIA:002578 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002578"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:002578", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011828
name: cancer, non-human animal
xref: OMIA:002587 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002587"} ! non-human animal disease
is_a: MONDO:1011305 {source="OMIA:002587", source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0004992 ! cross-species analog cancer
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011829
name: progressive ataxia with degenerative thoracic myelopathy, non-human animal
xref: OMIA:000079 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000079"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000079", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011830
name: audiogenic seizure, non-human animal
xref: OMIA:000093 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000093"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000093", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011831
name: distal axonopathy, non-human animal
xref: OMIA:000098 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000098"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000098", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011832
name: peripheral axonopathy, non-human animal
xref: OMIA:000099 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000099"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000099", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011833
name: cerebellar Purkinje cell degeneration, non-human animal
xref: OMIA:000174 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000174"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000174", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011834
name: cerebellar abiotrophy, non-human animal
xref: OMIA:000175 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000175"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000175", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011835
name: congenital cerebellar anomaly, non-human animal
xref: OMIA:000176 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000176"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000176", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011836
name: cerebellar cortical atrophy, non-human animal
xref: OMIA:000177 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000177"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000177", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011837
name: cerebellar disease, non-human animal
xref: OMIA:000178 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000178"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000178", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011838
name: congenital copper deficiency, non-human animal
xref: OMIA:000226 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000226"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000226", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011839
name: degenerative myelopathy, non-human animal
xref: OMIA:000263 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000263"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000263", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011840
name: delta 9-tetrahydrocannabinol seizure, non-human animal
xref: OMIA:000267 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000267"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000267", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011841
name: faded shaker, non-human animal
xref: OMIA:000365 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000365"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000365", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011842
name: granule cell type cerebellar hypoplasia, non-human animal
xref: OMIA:000427 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000427"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000427", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011843
name: internal hydrocephalus, non-human animal
xref: OMIA:000489 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000489"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000489", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011844
name: hypertrophic neuropathy, non-human animal
xref: OMIA:000518 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000518"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000518", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011845
name: congenital hypomyelinogenesis, non-human animal
xref: OMIA:000527 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000527"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000527", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011846
name: hypothalamic dysplasia, non-human animal
xref: OMIA:000535 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000535"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000535", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011847
name: hypotrophic axonopathy, non-human animal
xref: OMIA:000545 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000545"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000545", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011848
name: lower motor neuron disease, non-human animal
xref: OMIA:000662 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000662"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000662", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011849
name: myasthenia, non-human animal
xref: OMIA:000684 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000684"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000684", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011850
name: necrotising myelopathy, non-human animal
xref: OMIA:000706 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000706"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000706", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011851
name: congenital neuromuscular disease, non-human animal
xref: OMIA:000718 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000718"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000718", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011852
name: neurogenic muscular atrophy, non-human animal
xref: OMIA:000719 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000719"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000719", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011853
name: neurological syndrome, non-human animal
xref: OMIA:000720 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000720"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000720", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011854
name: thalamic-cerebellar neuropathy, non-human animal
xref: OMIA:000723 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000723"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000723", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011855
name: distal sensorimotor polyneuropathy, non-human animal
xref: OMIA:000813 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000813"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000813", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011856
name: progressive axonopathy, non-human animal
xref: OMIA:000825 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000825"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000825", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011857
name: progressive cerebellar abiotrophy, non-human animal
xref: OMIA:000826 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000826"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000826", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011858
name: progressive spinal myelopathy, non-human animal
xref: OMIA:000832 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000832"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000832", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011859
name: spastic paresis, non-human animal
xref: OMIA:000928 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000928"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000928", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011860
name: spastic syndrome, non-human animal
xref: OMIA:000929 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000929"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000929", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011861
name: tremor, non-human animal
xref: OMIA:001016 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001016"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001016", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011862
name: tremor syndrome with central axonopathy, non-human animal
xref: OMIA:001017 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001017"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001017", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011863
name: subacute necrotising encephalopathy of Leigh, non-human animal
xref: OMIA:001097 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001097"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001097", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011864
name: polymicrogyria and asymmetrical ventricular dilation, non-human animal
xref: OMIA:001098 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001098"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001098", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011865
name: axonopathy, non-human animal
xref: OMIA:001106 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001106"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001106", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011866
name: degenerative myeloencephalopathy, non-human animal
xref: OMIA:001163 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001163"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001163", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011867
name: neuronal abiotrophy, non-human animal
xref: OMIA:001164 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001164"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001164", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011868
name: motor neuron disease, non-human animal
xref: OMIA:001165 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001165"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001165", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011869
name: spinal dysmyelination, non-human animal
xref: OMIA:001247 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001247"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001247", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011870
name: polioencephalomyelopathy, non-human animal
xref: OMIA:001280 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001280"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001280", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011871
name: progressive neuronopathy, non-human animal
xref: OMIA:001282 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001282"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001282", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011872
name: polyneuropathy, non-human animal
xref: OMIA:001292 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001292"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001292", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011873
name: neuronal vacuolar disorder, non-human animal
xref: OMIA:001303 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001303"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001303", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011874
name: degenerative neuromuscular disease, non-human animal
xref: OMIA:001351 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001351"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001351", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011875
name: progressive ataxia with head tremor and seizures, non-human animal
xref: OMIA:001363 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001363"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001363", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011876
name: unilateral subcortical heterotopia, non-human animal
xref: OMIA:001463 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001463"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001463", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011877
name: exercise-induced collapse, non-human animal
xref: OMIA:001466 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001466"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001466", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011878
name: sensory ataxic neuropathy, non-human animal
xref: OMIA:001467 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001467"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001467", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011879
name: necrotizing meningoencephalitis, non-human animal
xref: OMIA:001470 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001470"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001470", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011880
name: neonatal encephalopathy with seizures, non-human animal
xref: OMIA:001471 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001471"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001471", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011881
name: tomaculous neuropathy, non-human animal
xref: OMIA:001491 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001491"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001491", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011882
name: segmental axonopathy, non-human animal
xref: OMIA:001492 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001492"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001492", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011883
name: dilute coat color with neurological defects, non-human animal
xref: OMIA:001501 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001501"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001501", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011884
name: acral mutilation syndrome, non-human animal
xref: OMIA:001514 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001514"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001514", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011885
name: episodic falling, non-human animal
xref: OMIA:001592 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001592"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001592", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011886
name: neuroaxonal dystrophy with cerebellar abiotrophy, non-human animal
xref: OMIA:001606 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001606"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001606", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011887
name: retinal dysplasia and internal hydrocephalus, non-human animal
xref: OMIA:001663 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001663"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001663", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011888
name: congenital hydranencephaly and cerebellar hypoplasia, non-human animal
xref: OMIA:001689 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001689"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001689", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011889
name: familial episodic spinocerebellar ataxia, non-human animal
xref: OMIA:001723 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001723"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001723", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011890
name: leukoencephalomyelopathy, non-human animal
xref: OMIA:001788 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001788"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001788", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011891
name: cervical vertebral compressive myelopathy, non-human animal
xref: OMIA:001894 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001894"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001894", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011892
name: spinal intradural arachnoid cyst, non-human animal
xref: OMIA:001923 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001923"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001923", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011893
name: neurodegenerative vacuolar storage disease, non-human animal
xref: OMIA:001954 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001954"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:001954", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011894
name: degenerative encephalopathy, non-human animal
xref: OMIA:002055 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002055"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:002055", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011895
name: Guillain-Barr-like polyradiculoneuropathy, non-human animal
xref: OMIA:002062 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002062"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:002062", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011897
name: cavitating leukodystrophy, non-human animal
xref: OMIA:002214 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002214"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:002214", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011898
name: hypomyelinating leukodystrophy, non-human animal
xref: OMIA:002321 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002321"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:002321", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011899
name: olivopontocerebellar degeneration, non-human animal
xref: OMIA:002454 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002454"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:002454", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011900
name: hypopigmentation and deafness, non-human animal
xref: OMIA:002287 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002287"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011901
name: white skin color and iridophoroma, non-human animal
xref: OMIA:002363 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002363"} ! non-human animal disease
is_a: MONDO:1011305 {source="https://orcid.org/0000-0002-5002-8648"} ! cancer or benign tumor, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011902
name: neuropathy and feather color dilution, non-human animal
xref: OMIA:002398 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002398"} ! non-human animal disease
is_a: MONDO:1011360 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011903
name: renal amyloidosis, non-human animal
xref: OMIA:000040 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000040"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011904
name: chronic interstitial nephropathy, non-human animal
xref: OMIA:000192 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000192"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011905
name: glomerulonephropathy, non-human animal
xref: OMIA:000414 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000414"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011906
name: hemolytic uremic syndrome, non-human animal
xref: OMIA:000435 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000435"} ! non-human animal disease
is_a: MONDO:1011365 {source="OMIA:000435", source="https://orcid.org/0000-0002-5002-8648"} ! urinary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011907
name: nephropathy, non-human animal
xref: OMIA:000710 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000710"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011908
name: polycystic mononephrosis, non-human animal
xref: OMIA:000808 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000808"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011909
name: renal disease, non-human animal
xref: OMIA:000856 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000856"} ! non-human animal disease
is_a: MONDO:1011365 {source="OMIA:000856", source="https://orcid.org/0000-0002-5002-8648"} ! urinary system disorder, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: MONDO:0700097 MONDO:0005240 ! cross-species analog kidney disorder
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011910
name: renal dysplasia and bladder aplasia-hypoplasia, non-human animal
xref: OMIA:000857 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000857"} ! non-human animal disease
is_a: MONDO:1011365 {source="OMIA:000857", source="https://orcid.org/0000-0002-5002-8648"} ! urinary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011911
name: renal insufficiency, non-human animal
xref: OMIA:000859 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000859"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011912
name: renal nephropathy, non-human animal
xref: OMIA:000860 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000860"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011913
name: renal cysts, non-human animal
xref: OMIA:001257 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001257"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011914
name: protein-losing nephropathy, non-human animal
xref: OMIA:001326 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001326"} ! non-human animal disease
is_a: MONDO:1011909 {source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011915
name: diffuse cystic renal dysplasia and hepatic fibrosis, non-human animal
xref: OMIA:002173 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002173"} ! non-human animal disease
is_a: MONDO:1011365 {source="OMIA:002173", source="https://orcid.org/0000-0002-5002-8648"} ! urinary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011916
name: Meckel-like hepatorenal fibrocystic dysplasia syndrome, non-human animal
xref: OMIA:002176 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002176"} ! non-human animal disease
is_a: MONDO:1011365 {source="OMIA:002176", source="https://orcid.org/0000-0002-5002-8648"} ! urinary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011917
name: idiopathic hypercalciuria, non-human animal
xref: OMIA:002384 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002384"} ! non-human animal disease
is_a: MONDO:1011365 {source="OMIA:002384", source="https://orcid.org/0000-0002-5002-8648"} ! urinary system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011918
name: tetragametic chimerism, non-human animal
xref: OMIA:000393 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000393"} ! non-human animal disease
is_a: MONDO:1011354 {source="OMIA:000393", source="https://orcid.org/0000-0002-5002-8648"} ! reproductive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011919
name: androgen insensitivity syndrome, non-human animal
synonym: "AIS" EXACT ABBREVIATION [OMIA:000991]
xref: OMIA:000991 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000991"} ! non-human animal disease
is_a: MONDO:1011354 {source="OMIA:000991", source="https://orcid.org/0000-0002-5002-8648"} ! reproductive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011920
name: yellow-semen syndrome, non-human animal
xref: OMIA:001304 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001304"} ! non-human animal disease
is_a: MONDO:1011354 {source="OMIA:001304", source="https://orcid.org/0000-0002-5002-8648"} ! reproductive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011921
name: pyometra, non-human animal
xref: OMIA:002391 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002391"} ! non-human animal disease
is_a: MONDO:1011354 {source="OMIA:002391", source="https://orcid.org/0000-0002-5002-8648"} ! reproductive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011922
name: retained placenta, non-human animal
xref: OMIA:002475 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002475"} ! non-human animal disease
is_a: MONDO:1011354 {source="OMIA:002475", source="https://orcid.org/0000-0002-5002-8648"} ! reproductive system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011923
name: respiratory distress syndrome, non-human animal
xref: OMIA:000101 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000101"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:000101", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011924
name: brachycephalic airway obstruction syndrome, non-human animal
xref: OMIA:000145 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000145"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:000145", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011925
name: primary ciliary dyskinesia, non-human animal
xref: OMIA:000573 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000573"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:000573", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011926
name: shivers, non-human animal
xref: OMIA:000676 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000676"} ! non-human animal disease
is_a: MONDO:1011336 {source="OMIA:000676", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011927
name: pulmonary adenomatosis, non-human animal
xref: OMIA:000840 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000840"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:000840", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011928
name: laryngeal paralysis, non-human animal
xref: OMIA:001206 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001206"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:001206", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011929
name: guttural pouch tympany, non-human animal
xref: OMIA:001408 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001408"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:001408", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011930
name: recurrent airway obstruction, non-human animal
xref: OMIA:001456 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001456"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:001456", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011931
name: upper airway syndrome, non-human animal
xref: OMIA:001893 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001893"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:001893", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011932
name: recurrent inflammatory pulmonary disease, non-human animal
xref: OMIA:002205 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002205"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:002205", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011933
name: pulmonary surfactant metabolism dysfunction, non-human animal
xref: OMIA:002251 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002251"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:002251", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011934
name: dynamic laryngeal collapse, non-human animal
xref: OMIA:002417 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002417"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:002417", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011935
name: growth and respiratory lethal syndrome, non-human animal
xref: OMIA:002560 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002560"} ! non-human animal disease
is_a: MONDO:0700104 {source="OMIA:002560", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011936
name: arthritis deformans, non-human animal
xref: OMIA:000065 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000065"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000065", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011937
name: type-II collagen-immune complex arthritis, non-human animal
xref: OMIA:000068 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000068"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000068", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011938
name: arthrogryposis and palatoschisis syndrome, non-human animal
xref: OMIA:000070 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000070"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000070", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011939
name: brachygnathia superior and degenerative joint disease, non-human animal
xref: OMIA:000150 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000150"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000150", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011940
name: ocular-skeletal dysplasia, non-human animal
xref: OMIA:000301 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000301"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000301", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011941
name: Ancon dwarfism, non-human animal
xref: OMIA:000302 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000302"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000302", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011942
name: autosomal dwarfism, non-human animal
xref: OMIA:000303 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000303"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000303", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011943
name: pituitary dwarfism, non-human animal
xref: OMIA:000307 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000307"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000307", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011944
name: multiple exostoses, non-human animal
xref: OMIA:000354 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000354"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000354", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011945
name: hypothyroidism and dwarfism, non-human animal
xref: OMIA:000537 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000537"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000537", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011946
name: congenital joint laxity and dwarfism, non-human animal
xref: OMIA:000570 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000570"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000570", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011947
name: muscle contracture and chondrodysplasia, non-human animal
xref: OMIA:000675 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000675"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000675", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011948
name: navicular disease, non-human animal
xref: OMIA:000704 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000704"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000704", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011949
name: occipital dysplasia, non-human animal
xref: OMIA:000732 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000732"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000732", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011950
name: osteochondroma causing progressive posterior paresis, non-human animal
xref: OMIA:000749 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000749"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000749", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011951
name: osteodystrophy, non-human animal
xref: OMIA:000753 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000753"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000753", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011952
name: polyarthritis, non-human animal
xref: OMIA:000805 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000805"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000805", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011953
name: spinal dysplasia, non-human animal
xref: OMIA:000937 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000937"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:000937", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011954
name: tibial dyschondroplasia, non-human animal
xref: OMIA:001007 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001007"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001007", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011955
name: spondylosis deformans, non-human animal
xref: OMIA:001132 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001132"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001132", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011956
name: growth-hormone-receptor deficiency dwarfism, non-human animal
xref: OMIA:001294 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001294"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001294", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011957
name: hypochondroplastic dwarfism, non-human animal
xref: OMIA:001296 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001296"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001296", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011958
name: Laron dwarfism, non-human animal
xref: OMIA:001323 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001323"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001323", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011959
name: growth-hormone deficiency dwarfism,, non-human animal
xref: OMIA:001473 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001473"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001473", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011960
name: rupture of the cranial cruciate ligament, non-human animal
xref: OMIA:001474 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001474"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001474", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011961
name: brachygnathia, cardiomegaly and renal hypoplasia syndrome, non-human animal
xref: OMIA:001595 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001595"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001595", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011962
name: vitamin D-deficiency rickets, non-type I, non-type II, non-human animal
xref: OMIA:001614 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001614"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001614", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011963
name: proportionate dwarfism with inflammatory lesions, non-human animal
xref: OMIA:001686 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001686"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001686", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011964
name: idiopathic congenital chondrodystrophy, non-human animal
synonym: "congenital chondrodystrophy of unknown origin, non-human animal" EXACT [OMIA:001814]
xref: OMIA:001814 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001814"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001814", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011965
name: disproportionate short-limbed chondrodysplasia, non-human animal
xref: OMIA:001886 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001886"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001886", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011966
name: skeletal dysplasia with craniofacial deformity and disproportionate dwarfism, non-human animal
xref: OMIA:001903 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001903"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001903", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011967
name: vertebral and spinal dysplasia, non-human animal
xref: OMIA:001951 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001951"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001951", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011968
name: lethal arthrogryposis syndrome, non-human animal
xref: OMIA:001953 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001953"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001953", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011969
name: Dahlem dwarfism, non-human animal
xref: OMIA:001998 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001998"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:001998", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011970
name: asymmetrical occipital condylar dysplasia, non-human animal
xref: OMIA:002422 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002422"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:002422", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011971
name: caudal cruciate ligament disease, non-human animal
xref: OMIA:002463 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002463"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:002463", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011972
name: osteochondromatosis, non-human animal
xref: OMIA:002555 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002555"} ! non-human animal disease
is_a: MONDO:1011335 {source="OMIA:002555", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011973
name: pyknodysostosis, non-human animal
xref: OMIA:002607 {source="MONDO:equivalentTo"}
is_a: MONDO:1011335 {source="OMIA:002607", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011974
name: aniridia with cataract, non-human animal
xref: OMIA:000045 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000045"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000045", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011975
name: congenital blindness, non-human animal
xref: OMIA:000115 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000115"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000115", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011976
name: Collie eye anomaly, non-human animal
xref: OMIA:000218 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000218"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000218", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011977
name: progressive retinal atrophy, non-human animal
xref: OMIA:000830 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000830"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000830", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011978
name: central retinal degeneration, non-human animal
xref: OMIA:000867 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000867"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000867", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011979
name: retinal dysplasia, non-human animal
xref: OMIA:000868 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000868"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000868", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011980
name: retinal dystrophy, non-human animal
xref: OMIA:000869 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000869"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000869", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011981
name: rod-cone degeneration, non-human animal
xref: OMIA:000880 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000880"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000880", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011982
name: rod-cone dysplasia, non-human animal
xref: OMIA:000881 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000881"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000881", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011983
name: tapetal degeneration, non-human animal
xref: OMIA:000980 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:000980"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:000980", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011984
name: retinal and skeletal dysplasia, non-human animal
xref: OMIA:001182 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001182"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001182", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011985
name: early retinal degeneration, non-human animal
xref: OMIA:001297 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001297"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001297", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011986
name: progressive rod-cone degeneration, non-human animal
xref: OMIA:001298 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001298"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001298", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011987
name: photoreceptor dysplasia, non-human animal
xref: OMIA:001311 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001311"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001311", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011988
name: retinal dysplasia and degeneration, non-human animal
xref: OMIA:001366 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001366"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001366", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011989
name: blindness with enlarged globe, non-human animal
xref: OMIA:001367 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001367"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001367", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011990
name: retinal dysplasia and persistent primary vitreous, non-human animal
xref: OMIA:001420 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001420"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001420", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011991
name: rod dysplasia, non-human animal
xref: OMIA:001670 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001670"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001670", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011992
name: congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, non-human animal
xref: OMIA:001683 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001683"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001683", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011993
name: lacrimal fistula, non-human animal
xref: OMIA:001693 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001693"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001693", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011994
name: fluoroquinolone-induced retinal degeneration, non-human animal
xref: OMIA:001707 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001707"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001707", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011995
name: gyrate atrophy of choroid and retina, non-human animal
xref: OMIA:001774 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001774"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001774", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011996
name: ocular melanosis, non-human animal
xref: OMIA:001804 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001804"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001804", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011997
name: recurrent uveitis, non-human animal
xref: OMIA:001872 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:001872"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:001872", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011998
name: primary open angle glaucoma, non-human animal
xref: OMIA:002046 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002046"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:002046", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1011999
name: pectinate ligament dysplasia, non-human animal
xref: OMIA:002118 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002118"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:002118", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012000
name: sudden acquired retinal degeneration syndrome, non-human animal
synonym: "SARDS" EXACT ABBREVIATION [OMIA:002169]
xref: OMIA:002169 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002169"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:002169", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012001
name: bilateral corneal stromal loss, non-human animal
xref: OMIA:002187 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002187"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:002187", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012002
name: vitreous degeneration, non-human animal
xref: OMIA:002409 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002409"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:002409", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012003
name: corneal sequestra, non-human animal
xref: OMIA:002574 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002574"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:002574", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012004
name: osseous choristoma of the ciliary body, non-human animal
xref: OMIA:002576 {source="MONDO:equivalentTo"}
is_a: MONDO:0005583 {source="OMIA:002576"} ! non-human animal disease
is_a: MONDO:1011367 {source="OMIA:002576", source="https://orcid.org/0000-0002-5002-8648"} ! vision disorder, non-human animal
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012005
name: alloimmune hemolytic anemia of the newborn, dog
xref: OMIA:000028-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011684 {source="OMIA:000028", source="https://orcid.org/0000-0002-5002-8648"} ! alloimmune hemolytic anemia of the newborn, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000028-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012006
name: alloimmune hemolytic anemia of the newborn, domestic cat
xref: OMIA:000028-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011684 {source="OMIA:000028", source="https://orcid.org/0000-0002-5002-8648"} ! alloimmune hemolytic anemia of the newborn, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000028-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012007
name: alloimmune hemolytic anemia of the newborn, horse
xref: OMIA:000028-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011684 {source="OMIA:000028", source="https://orcid.org/0000-0002-5002-8648"} ! alloimmune hemolytic anemia of the newborn, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000028-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012008
name: alloxan-diabetes, dog
xref: OMIA:000029-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011712 {source="OMIA:000029", source="https://orcid.org/0000-0002-5002-8648"} ! alloxan-diabetes, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000029-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012009
name: renal amyloidosis, dog
xref: OMIA:000040-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011903 {source="OMIA:000040", source="https://orcid.org/0000-0002-5002-8648"} ! renal amyloidosis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000040-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012010
name: renal amyloidosis, domestic cat
xref: OMIA:000040-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011903 {source="OMIA:000040", source="https://orcid.org/0000-0002-5002-8648"} ! renal amyloidosis, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000040-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012011
name: renal amyloidosis, cattle
xref: OMIA:000040-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011903 {source="OMIA:000040", source="https://orcid.org/0000-0002-5002-8648"} ! renal amyloidosis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000040-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012012
name: aniridia with cataract, horse
xref: OMIA:000045-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011974 {source="OMIA:000045", source="https://orcid.org/0000-0002-5002-8648"} ! aniridia with cataract, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000045-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012013
name: arthritis deformans, pig
xref: OMIA:000065-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011936 {source="OMIA:000065", source="https://orcid.org/0000-0002-5002-8648"} ! arthritis deformans, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000065-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012014
name: type-II collagen-immune complex arthritis, sheep
xref: OMIA:000068-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011937 {source="OMIA:000068", source="https://orcid.org/0000-0002-5002-8648"} ! type-II collagen-immune complex arthritis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000068-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012015
name: arthrogryposis and palatoschisis syndrome, cattle
xref: OMIA:000070-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011938 {source="OMIA:000070", source="https://orcid.org/0000-0002-5002-8648"} ! arthrogryposis and palatoschisis syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000070-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012016
name: progressive ataxia with degenerative thoracic myelopathy, sheep
xref: OMIA:000079-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011829 {source="OMIA:000079", source="https://orcid.org/0000-0002-5002-8648"} ! progressive ataxia with degenerative thoracic myelopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000079-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012017
name: atopy, dog
xref: OMIA:000082-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011733 {source="OMIA:000082", source="https://orcid.org/0000-0002-5002-8648"} ! atopy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000082-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012018
name: atopy, domestic cat
xref: OMIA:000082-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011733 {source="OMIA:000082", source="https://orcid.org/0000-0002-5002-8648"} ! atopy, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000082-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012019
name: atrial septal defect and atrial fibrillation, horse
xref: OMIA:000090-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011640 {source="OMIA:000090", source="https://orcid.org/0000-0002-5002-8648"} ! atrial septal defect and atrial fibrillation, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000090-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012020
name: audiogenic seizure, rabbit
xref: OMIA:000093-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011830 {source="OMIA:000093", source="https://orcid.org/0000-0002-5002-8648"} ! audiogenic seizure, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000093-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012021
name: spontaneous autoimmune thyroiditis, chicken
xref: OMIA:000097-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011673 {source="OMIA:000097", source="https://orcid.org/0000-0002-5002-8648"} ! spontaneous autoimmune thyroiditis, non-human animal
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000097-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012022
name: spontaneous autoimmune thyroiditis, domestic cat
xref: OMIA:000097-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011673 {source="OMIA:000097", source="https://orcid.org/0000-0002-5002-8648"} ! spontaneous autoimmune thyroiditis, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000097-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012023
name: distal axonopathy, domestic cat
xref: OMIA:000098-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011831 {source="OMIA:000098", source="https://orcid.org/0000-0002-5002-8648"} ! distal axonopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000098-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012024
name: peripheral axonopathy, domestic cat
xref: OMIA:000099-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011832 {source="OMIA:000099", source="https://orcid.org/0000-0002-5002-8648"} ! peripheral axonopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000099-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012025
name: respiratory distress syndrome, pig
xref: OMIA:000101-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011923 {source="OMIA:000101", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory distress syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000101-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012026
name: black hair follicular dysplasia, cattle
xref: OMIA:000110-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011734 {source="OMIA:000110", source="https://orcid.org/0000-0002-5002-8648"} ! black hair follicular dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000110-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012027
name: bleeding disorder, dog
xref: OMIA:000113-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011685 {source="OMIA:000113", source="https://orcid.org/0000-0002-5002-8648"} ! bleeding disorder, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000113-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012028
name: bleeding disorder, domestic cat
xref: OMIA:000113-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011685 {source="OMIA:000113", source="https://orcid.org/0000-0002-5002-8648"} ! bleeding disorder, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000113-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012029
name: bleeding disorder, pig
xref: OMIA:000113-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011685 {source="OMIA:000113", source="https://orcid.org/0000-0002-5002-8648"} ! bleeding disorder, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000113-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012030
name: bleeding disorder, cattle
synonym: "bleeding diathesis, cattle" EXACT [OMIA:000112-9913]
xref: OMIA:000112-9913 {source="MONDO:equivalentTo"}
xref: OMIA:000113-9913 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
is_a: MONDO:1011685 {source="OMIA:000113", source="https://orcid.org/0000-0002-5002-8648"} ! bleeding disorder, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000112-9913", source="OMIA:000113-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012031
name: congenital blindness, pig
xref: OMIA:000115-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011975 {source="OMIA:000115", source="https://orcid.org/0000-0002-5002-8648"} ! congenital blindness, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000115-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012032
name: brachycephalic airway obstruction syndrome, dog
xref: OMIA:000145-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011924 {source="OMIA:000145", source="https://orcid.org/0000-0002-5002-8648"} ! brachycephalic airway obstruction syndrome, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000145-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012033
name: brachycephalic airway obstruction syndrome, domestic cat
xref: OMIA:000145-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011924 {source="OMIA:000145", source="https://orcid.org/0000-0002-5002-8648"} ! brachycephalic airway obstruction syndrome, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000145-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012034
name: brachygnathia superior and degenerative joint disease, cattle
xref: OMIA:000150-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011939 {source="OMIA:000150", source="https://orcid.org/0000-0002-5002-8648"} ! brachygnathia superior and degenerative joint disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000150-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012035
name: cardiomyopathy and woolly haircoat syndrome, cattle
xref: OMIA:000161-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011641 {source="OMIA:000161", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy and woolly haircoat syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000161-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012036
name: spontaneous cardiomyopathy, turkey
xref: OMIA:000164-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1011642 {source="OMIA:000164", source="https://orcid.org/0000-0002-5002-8648"} ! spontaneous cardiomyopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9103 {source="OMIA:000164-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012037
name: cerebellar Purkinje cell degeneration, dog
xref: OMIA:000174-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011833 {source="OMIA:000174", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar Purkinje cell degeneration, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000174-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012038
name: cerebellar abiotrophy, dog
xref: OMIA:000175-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011834 {source="OMIA:000175", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar abiotrophy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000175-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012039
name: cerebellar abiotrophy, domestic cat
xref: OMIA:000175-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011834 {source="OMIA:000175", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar abiotrophy, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000175-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012040
name: cerebellar abiotrophy, horse
xref: OMIA:000175-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011834 {source="OMIA:000175", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar abiotrophy, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000175-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012041
name: cerebellar abiotrophy, cattle
xref: OMIA:000175-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011834 {source="OMIA:000175", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar abiotrophy, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000175-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012042
name: cerebellar abiotrophy, goat
xref: OMIA:000175-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011834 {source="OMIA:000175", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar abiotrophy, non-human animal
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000175-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012043
name: cerebellar abiotrophy, sheep
xref: OMIA:000175-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011834 {source="OMIA:000175", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar abiotrophy, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000175-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012044
name: congenital cerebellar anomaly, pig
xref: OMIA:000176-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011835 {source="OMIA:000176", source="https://orcid.org/0000-0002-5002-8648"} ! congenital cerebellar anomaly, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000176-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012045
name: cerebellar cortical atrophy, dog
xref: OMIA:000177-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011836 {source="OMIA:000177", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar cortical atrophy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000177-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012046
name: cerebellar cortical atrophy, domestic cat
xref: OMIA:000177-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011836 {source="OMIA:000177", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar cortical atrophy, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000177-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012047
name: cerebellar cortical atrophy, cattle
xref: OMIA:000177-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011836 {source="OMIA:000177", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar cortical atrophy, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000177-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012048
name: cerebellar cortical atrophy, sheep
xref: OMIA:000177-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011836 {source="OMIA:000177", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar cortical atrophy, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000177-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012049
name: cerebellar disease, cattle
xref: OMIA:000178-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011837 {source="OMIA:000178", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000178-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012050
name: chronic interstitial nephropathy, ducks
xref: OMIA:000192-8835 {source="MONDO:equivalentTo"}
is_a: MONDO:1011904 {source="OMIA:000192", source="https://orcid.org/0000-0002-5002-8648"} ! chronic interstitial nephropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:8835 {source="OMIA:000192-8835", source="https://orcid.org/0000-0002-5002-8648"} ! Anas
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012051
name: Collie eye anomaly, dog
xref: OMIA:000218-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011976 {source="OMIA:000218", source="https://orcid.org/0000-0002-5002-8648"} ! Collie eye anomaly, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000218-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012052
name: contact activation defect, domestic cat
xref: OMIA:000225-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011686 {source="OMIA:000225", source="https://orcid.org/0000-0002-5002-8648"} ! contact activation defect, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000225-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012053
name: congenital copper deficiency, goat
xref: OMIA:000226-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011838 {source="OMIA:000226", source="https://orcid.org/0000-0002-5002-8648"} ! congenital copper deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000226-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012054
name: craniomandibular osteopathy, dog
xref: OMIA:000236-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011653 {source="OMIA:000236", source="https://orcid.org/0000-0002-5002-8648"} ! craniomandibular osteopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000236-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012055
name: cyclic neutropenia, dog
xref: OMIA:000248-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011687 {source="OMIA:000248", source="https://orcid.org/0000-0002-5002-8648"} ! cyclic neutropenia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000248-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012056
name: degenerative myelopathy, dog
xref: OMIA:000263-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011839 {source="OMIA:000263", source="https://orcid.org/0000-0002-5002-8648"} ! degenerative myelopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000263-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012057
name: degenerative myopathy of deep pectoral muscle, turkey
xref: OMIA:000264-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1011787 {source="OMIA:000264", source="https://orcid.org/0000-0002-5002-8648"} ! degenerative myopathy of deep pectoral muscle, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9103 {source="OMIA:000264-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012058
name: degenerative myopathy of obturator-externus, dog
xref: OMIA:000265-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011788 {source="OMIA:000265", source="https://orcid.org/0000-0002-5002-8648"} ! degenerative myopathy of obturator-externus, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000265-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012059
name: delta 9-tetrahydrocannabinol seizure, rabbit
xref: OMIA:000267-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011840 {source="OMIA:000267", source="https://orcid.org/0000-0002-5002-8648"} ! delta 9-tetrahydrocannabinol seizure, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000267-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012060
name: dermal allergy, horse
xref: OMIA:000268-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011735 {source="OMIA:000268", source="https://orcid.org/0000-0002-5002-8648"} ! dermal allergy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000268-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012061
name: dermatosis vegetans, pig
xref: OMIA:000271-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011736 {source="OMIA:000271", source="https://orcid.org/0000-0002-5002-8648"} ! dermatosis vegetans, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000271-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012062
name: hyperosmolar nonketotic diabetes mellitus, domestic cat
xref: OMIA:000280-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011674 {source="OMIA:000280", source="https://orcid.org/0000-0002-5002-8648"} ! hyperosmolar nonketotic diabetes mellitus, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000280-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012063
name: ocular-skeletal dysplasia, dog
xref: OMIA:000301-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011940 {source="OMIA:000301", source="https://orcid.org/0000-0002-5002-8648"} ! ocular-skeletal dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000301-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012064
name: Ancon dwarfism, sheep
xref: OMIA:000302-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011941 {source="OMIA:000302", source="https://orcid.org/0000-0002-5002-8648"} ! Ancon dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000302-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012065
name: autosomal dwarfism, chicken
xref: OMIA:000303-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011942 {source="OMIA:000303", source="https://orcid.org/0000-0002-5002-8648"} ! autosomal dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000303-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012066
name: pituitary dwarfism, dog
xref: OMIA:000307-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011943 {source="OMIA:000307", source="https://orcid.org/0000-0002-5002-8648"} ! pituitary dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000307-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012067
name: congenital dyserythropoietic anemia with dyskeratosis and progressive alopecia, cattle
xref: OMIA:000313-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011688 {source="OMIA:000313", source="https://orcid.org/0000-0002-5002-8648"} ! congenital dyserythropoietic anemia with dyskeratosis and progressive alopecia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000313-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012068
name: dystrophic epidermolysis bullosa, dog
xref: OMIA:000341-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011737 {source="OMIA:000341", source="https://orcid.org/0000-0002-5002-8648"} ! dystrophic epidermolysis bullosa, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000341-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012069
name: dystrophic epidermolysis bullosa, domestic cat
xref: OMIA:000341-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011737 {source="OMIA:000341", source="https://orcid.org/0000-0002-5002-8648"} ! dystrophic epidermolysis bullosa, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000341-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012070
name: dystrophic epidermolysis bullosa, cattle
xref: OMIA:000341-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011737 {source="OMIA:000341", source="https://orcid.org/0000-0002-5002-8648"} ! dystrophic epidermolysis bullosa, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000341-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012071
name: dystrophic epidermolysis bullosa, goat
xref: OMIA:000341-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011737 {source="OMIA:000341", source="https://orcid.org/0000-0002-5002-8648"} ! dystrophic epidermolysis bullosa, non-human animal
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000341-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012072
name: dystrophic epidermolysis bullosa, sheep
xref: OMIA:000341-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011737 {source="OMIA:000341", source="https://orcid.org/0000-0002-5002-8648"} ! dystrophic epidermolysis bullosa, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000341-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012073
name: multiple exostoses, dog
xref: OMIA:000354-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011944 {source="OMIA:000354", source="https://orcid.org/0000-0002-5002-8648"} ! multiple exostoses, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000354-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012074
name: multiple exostoses, horse
xref: OMIA:000354-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011944 {source="OMIA:000354", source="https://orcid.org/0000-0002-5002-8648"} ! multiple exostoses, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000354-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012075
name: multiple exostoses, pig
xref: OMIA:000354-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011944 {source="OMIA:000354", source="https://orcid.org/0000-0002-5002-8648"} ! multiple exostoses, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000354-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012076
name: facial digital syndrome, cattle
xref: OMIA:000360-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011654 {source="OMIA:000360", source="https://orcid.org/0000-0002-5002-8648"} ! facial digital syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000360-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012077
name: faded shaker, chicken
xref: OMIA:000365-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011841 {source="OMIA:000365", source="https://orcid.org/0000-0002-5002-8648"} ! faded shaker, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000365-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012078
name: fibrodysplasia ossificans, dog
xref: OMIA:000388-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011789 {source="OMIA:000388", source="https://orcid.org/0000-0002-5002-8648"} ! fibrodysplasia ossificans, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000388-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012079
name: fibrodysplasia ossificans, domestic cat
xref: OMIA:000388-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011789 {source="OMIA:000388", source="https://orcid.org/0000-0002-5002-8648"} ! fibrodysplasia ossificans, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000388-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012080
name: focal metatarsal fistula, dog
xref: OMIA:000389-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011738 {source="OMIA:000389", source="https://orcid.org/0000-0002-5002-8648"} ! focal metatarsal fistula, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000389-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012081
name: tetragametic chimerism, bighorn sheep
xref: OMIA:000393-37174 {source="MONDO:equivalentTo"}
is_a: MONDO:1011918 {source="OMIA:000393", source="https://orcid.org/0000-0002-5002-8648"} ! tetragametic chimerism, non-human animal
relationship: in_taxon NCBITaxon:37174 {source="OMIA:000393-37174", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis canadensis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012082
name: tetragametic chimerism, water buffalo
xref: OMIA:000393-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1011918 {source="OMIA:000393", source="https://orcid.org/0000-0002-5002-8648"} ! tetragametic chimerism, non-human animal
relationship: in_taxon NCBITaxon:89462 {source="OMIA:000393-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012083
name: tetragametic chimerism, dog
xref: OMIA:000393-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011918 {source="OMIA:000393", source="https://orcid.org/0000-0002-5002-8648"} ! tetragametic chimerism, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000393-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012084
name: tetragametic chimerism, pig
xref: OMIA:000393-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011918 {source="OMIA:000393", source="https://orcid.org/0000-0002-5002-8648"} ! tetragametic chimerism, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000393-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012085
name: tetragametic chimerism, cattle
xref: OMIA:000393-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011918 {source="OMIA:000393", source="https://orcid.org/0000-0002-5002-8648"} ! tetragametic chimerism, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000393-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012086
name: tetragametic chimerism, sheep
xref: OMIA:000393-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011918 {source="OMIA:000393", source="https://orcid.org/0000-0002-5002-8648"} ! tetragametic chimerism, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000393-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012087
name: alpha fucosidosis, dog
xref: OMIA:000396-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011783 {source="OMIA:000396", source="https://orcid.org/0000-0002-5002-8648"} ! alpha fucosidosis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000396-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012088
name: alpha fucosidosis, domestic cat
xref: OMIA:000396-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011783 {source="OMIA:000396", source="https://orcid.org/0000-0002-5002-8648"} ! alpha fucosidosis, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000396-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012089
name: gastric dilatation volvulus syndrome, domestic guinea pig
xref: OMIA:000404-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1011659 {source="OMIA:000404", source="https://orcid.org/0000-0002-5002-8648"} ! gastric dilatation volvulus syndrome, non-human animal
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000404-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012090
name: gastric dilatation volvulus syndrome, maned wolf
xref: OMIA:000404-68728 {source="MONDO:equivalentTo"}
is_a: MONDO:1011659 {source="OMIA:000404", source="https://orcid.org/0000-0002-5002-8648"} ! gastric dilatation volvulus syndrome, non-human animal
relationship: in_taxon NCBITaxon:68728 {source="OMIA:000404-68728", source="https://orcid.org/0000-0002-5002-8648"} ! Chrysocyon brachyurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012091
name: gastric dilatation volvulus syndrome, dog
xref: OMIA:000404-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011659 {source="OMIA:000404", source="https://orcid.org/0000-0002-5002-8648"} ! gastric dilatation volvulus syndrome, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000404-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012092
name: gastric dilatation volvulus syndrome, lesser panda
xref: OMIA:000404-9649 {source="MONDO:equivalentTo"}
is_a: MONDO:1011659 {source="OMIA:000404", source="https://orcid.org/0000-0002-5002-8648"} ! gastric dilatation volvulus syndrome, non-human animal
relationship: in_taxon NCBITaxon:9649 {source="OMIA:000404-9649", source="https://orcid.org/0000-0002-5002-8648"} ! Ailurus fulgens
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012093
name: glomerulonephropathy, dog
xref: OMIA:000414-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011905 {source="OMIA:000414", source="https://orcid.org/0000-0002-5002-8648"} ! glomerulonephropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000414-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012094
name: granule cell type cerebellar hypoplasia, dog
xref: OMIA:000427-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011842 {source="OMIA:000427", source="https://orcid.org/0000-0002-5002-8648"} ! granule cell type cerebellar hypoplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000427-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012095
name: hemolytic anemia, dog
xref: OMIA:000430-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011689 {source="OMIA:000430", source="https://orcid.org/0000-0002-5002-8648"} ! hemolytic anemia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000430-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012096
name: hemolytic anemia, cattle
xref: OMIA:000430-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011689 {source="OMIA:000430", source="https://orcid.org/0000-0002-5002-8648"} ! hemolytic anemia, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000430-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012097
name: hemolytic anemia, sheep
xref: OMIA:000430-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011689 {source="OMIA:000430", source="https://orcid.org/0000-0002-5002-8648"} ! hemolytic anemia, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000430-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012098
name: primary autoimmune hemolytic anemia, dog
xref: OMIA:000434-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011690 {source="OMIA:000434", source="https://orcid.org/0000-0002-5002-8648"} ! primary autoimmune hemolytic anemia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000434-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012099
name: primary autoimmune hemolytic anemia, horse
xref: OMIA:000434-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011690 {source="OMIA:000434", source="https://orcid.org/0000-0002-5002-8648"} ! primary autoimmune hemolytic anemia, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000434-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012100
name: hemolytic uremic syndrome, dog
xref: OMIA:000435-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011906 {source="OMIA:000435", source="https://orcid.org/0000-0002-5002-8648"} ! hemolytic uremic syndrome, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000435-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012101
name: hemolytic uremic syndrome, cattle
xref: OMIA:000435-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011906 {source="OMIA:000435", source="https://orcid.org/0000-0002-5002-8648"} ! hemolytic uremic syndrome, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000435-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012102
name: idiopathic hepatic fibrosis, dog
xref: OMIA:000454-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011775 {source="OMIA:000454", source="https://orcid.org/0000-0002-5002-8648"} ! idiopathic hepatic fibrosis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000454-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012103
name: idiopathic hepatic fibrosis, cattle
xref: OMIA:000454-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011775 {source="OMIA:000454", source="https://orcid.org/0000-0002-5002-8648"} ! idiopathic hepatic fibrosis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000454-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012104
name: Hodgkin disease, dog
xref: OMIA:000476-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011808 {source="OMIA:000476", source="https://orcid.org/0000-0002-5002-8648"} ! Hodgkin disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000476-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012105
name: internal hydrocephalus, dog
xref: OMIA:000489-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011843 {source="OMIA:000489", source="https://orcid.org/0000-0002-5002-8648"} ! internal hydrocephalus, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000489-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012106
name: internal hydrocephalus, cattle
xref: OMIA:000489-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011843 {source="OMIA:000489", source="https://orcid.org/0000-0002-5002-8648"} ! internal hydrocephalus, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000489-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012107
name: hyperkinesis, dog
xref: OMIA:000503-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011626 {source="OMIA:000503", source="https://orcid.org/0000-0002-5002-8648"} ! hyperkinesis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000503-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012108
name: hypertrophic neuropathy, dog
xref: OMIA:000518-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011844 {source="OMIA:000518", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic neuropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000518-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012109
name: hypoadrenocorticism, dog
xref: OMIA:000519-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011675 {source="OMIA:000519", source="https://orcid.org/0000-0002-5002-8648"} ! hypoadrenocorticism, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000519-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012110
name: hypoadrenocorticism, domestic cat
xref: OMIA:000519-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011675 {source="OMIA:000519", source="https://orcid.org/0000-0002-5002-8648"} ! hypoadrenocorticism, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000519-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012111
name: hypoadrenocorticism, horse
xref: OMIA:000519-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011675 {source="OMIA:000519", source="https://orcid.org/0000-0002-5002-8648"} ! hypoadrenocorticism, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000519-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012112
name: hypoadrenocorticism, goat
xref: OMIA:000519-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011675 {source="OMIA:000519", source="https://orcid.org/0000-0002-5002-8648"} ! hypoadrenocorticism, non-human animal
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000519-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012113
name: primary hypoadrenocorticism, dog
xref: OMIA:000520-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011676 {source="OMIA:000520", source="https://orcid.org/0000-0002-5002-8648"} ! primary hypoadrenocorticism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000520-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012114
name: congenital hypomyelinogenesis, dog
xref: OMIA:000527-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011845 {source="OMIA:000527", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypomyelinogenesis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000527-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012115
name: congenital hypomyelinogenesis, pig
xref: OMIA:000527-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011845 {source="OMIA:000527", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypomyelinogenesis, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000527-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012116
name: congenital hypomyelinogenesis, cattle
xref: OMIA:000527-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011845 {source="OMIA:000527", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypomyelinogenesis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000527-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012117
name: congenital hypomyelinogenesis, sheep
xref: OMIA:000527-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011845 {source="OMIA:000527", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypomyelinogenesis, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000527-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012118
name: congenital hypoplasia of mammary gland, sheep
xref: OMIA:000529-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011677 {source="OMIA:000529", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypoplasia of mammary gland, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000529-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012119
name: hypothalamic dysplasia, dog
xref: OMIA:000535-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011846 {source="OMIA:000535", source="https://orcid.org/0000-0002-5002-8648"} ! hypothalamic dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000535-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012120
name: hypothyroidism and dwarfism, Sumatran tiger
xref: OMIA:000537-9695 {source="MONDO:equivalentTo"}
is_a: MONDO:1011945 {source="OMIA:000537", source="https://orcid.org/0000-0002-5002-8648"} ! hypothyroidism and dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9695 {source="OMIA:000537-9695", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera tigris sumatrae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012121
name: primary hypothyroidism, dog
xref: OMIA:000538-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011678 {source="OMIA:000538", source="https://orcid.org/0000-0002-5002-8648"} ! primary hypothyroidism, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000538-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012122
name: primary hypothyroidism, domestic cat
xref: OMIA:000538-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011678 {source="OMIA:000538", source="https://orcid.org/0000-0002-5002-8648"} ! primary hypothyroidism, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000538-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012123
name: congenital hypotrichosis with thymic aplasia, domestic cat
xref: OMIA:000544-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011739 {source="OMIA:000544", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypotrichosis with thymic aplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000544-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012124
name: hypotrophic axonopathy, Japanese quail
xref: OMIA:000545-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1011847 {source="OMIA:000545", source="https://orcid.org/0000-0002-5002-8648"} ! hypotrophic axonopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:93934 {source="OMIA:000545-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012125
name: immunodeficiency disease, dog
xref: OMIA:000550-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011724 {source="OMIA:000550", source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000550-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012126
name: immunodeficiency disease, domestic cat
xref: OMIA:000550-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011724 {source="OMIA:000550", source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000550-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012127
name: immunodeficiency disease, llama
xref: OMIA:000550-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1011724 {source="OMIA:000550", source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal
relationship: in_taxon NCBITaxon:9844 {source="OMIA:000550-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012128
name: immunoglobulin 7S deficiency, chicken
xref: OMIA:000551-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011725 {source="OMIA:000551", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin 7S deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000551-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012129
name: immunoglobulin A deficiency, gray wolf
xref: OMIA:000552-9612 {source="MONDO:equivalentTo"}
is_a: MONDO:1011726 {source="OMIA:000552", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin A deficiency, non-human animal
relationship: in_taxon NCBITaxon:9612 {source="OMIA:000552-9612", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012130
name: immunoglobulin A deficiency, dog
xref: OMIA:000552-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011726 {source="OMIA:000552", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin A deficiency, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000552-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012131
name: immunoglobulin G deficiency, chicken
xref: OMIA:000554-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011727 {source="OMIA:000554", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin G deficiency, non-human animal
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000554-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012132
name: immunoglobulin G deficiency, dog
xref: OMIA:000554-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011727 {source="OMIA:000554", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin G deficiency, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000554-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012133
name: immunoglobulin G deficiency, horse
xref: OMIA:000554-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011727 {source="OMIA:000554", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin G deficiency, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000554-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012134
name: immunoglobulin G2 deficiency, cattle
xref: OMIA:000555-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011728 {source="OMIA:000555", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin G2 deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000555-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012135
name: immunoglobulin M deficiency, horse
xref: OMIA:000556-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011729 {source="OMIA:000556", source="https://orcid.org/0000-0002-5002-8648"} ! immunoglobulin M deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000556-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012136
name: inborn error of hepatic metabolism, dog
xref: OMIA:000561-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011776 {source="OMIA:000561", source="https://orcid.org/0000-0002-5002-8648"} ! inborn error of hepatic metabolism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000561-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012137
name: congenital joint laxity and dwarfism, cattle
xref: OMIA:000570-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011946 {source="OMIA:000570", source="https://orcid.org/0000-0002-5002-8648"} ! congenital joint laxity and dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000570-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012138
name: primary ciliary dyskinesia, dog
xref: OMIA:000573-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011925 {source="OMIA:000573", source="https://orcid.org/0000-0002-5002-8648"} ! primary ciliary dyskinesia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000573-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012139
name: primary ciliary dyskinesia, domestic cat
xref: OMIA:000573-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011925 {source="OMIA:000573", source="https://orcid.org/0000-0002-5002-8648"} ! primary ciliary dyskinesia, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000573-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012140
name: primary ciliary dyskinesia, pig
xref: OMIA:000573-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011925 {source="OMIA:000573", source="https://orcid.org/0000-0002-5002-8648"} ! primary ciliary dyskinesia, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000573-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012141
name: multiple lipomatosis, dog
xref: OMIA:000606-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011809 {source="OMIA:000606", source="https://orcid.org/0000-0002-5002-8648"} ! multiple lipomatosis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000606-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012142
name: multiple lipomatosis, pig
xref: OMIA:000606-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011809 {source="OMIA:000606", source="https://orcid.org/0000-0002-5002-8648"} ! multiple lipomatosis, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000606-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012143
name: multiple lipomatosis, cattle
xref: OMIA:000606-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011809 {source="OMIA:000606", source="https://orcid.org/0000-0002-5002-8648"} ! multiple lipomatosis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000606-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012144
name: malignant hyperthermia, turkey
xref: OMIA:000621-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1011713 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! malignant hyperthermia, non-human animal
relationship: in_taxon NCBITaxon:9103 {source="OMIA:000621-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012145
name: malignant hyperthermia, dog
xref: OMIA:000621-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011713 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! malignant hyperthermia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000621-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012146
name: malignant hyperthermia, domestic cat
xref: OMIA:000621-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011713 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! malignant hyperthermia, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000621-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012147
name: malignant hyperthermia, horse
xref: OMIA:000621-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011713 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! malignant hyperthermia, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000621-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012148
name: malignant hyperthermia, pig
xref: OMIA:000621-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011713 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! malignant hyperthermia, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000621-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012149
name: malignant hyperthermia, deer
xref: OMIA:000621-9850 {source="MONDO:equivalentTo"}
is_a: MONDO:1011713 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! malignant hyperthermia, non-human animal
relationship: in_taxon NCBITaxon:9850 {source="OMIA:000621-9850", source="https://orcid.org/0000-0002-5002-8648"} ! Cervidae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012150
name: malignant hyperthermia, cattle
xref: OMIA:000621-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011713 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! malignant hyperthermia, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000621-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012151
name: malignant hyperthermia, rabbit
xref: OMIA:000621-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011713 {source="OMIA:000621", source="https://orcid.org/0000-0002-5002-8648"} ! malignant hyperthermia, non-human animal
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000621-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012152
name: megakaryoblastic leukemia, dog
xref: OMIA:000630-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011810 {source="OMIA:000630", source="https://orcid.org/0000-0002-5002-8648"} ! megakaryoblastic leukemia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000630-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012153
name: megaesophagus, dog
def: "Megaesophagus that occurs in dog." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000631-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011660 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! megaesophagus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000631-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012154
name: megaesophagus, domestic ferret
def: "Megaesophagus that occurs in domestic ferret." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000631-9669 {source="MONDO:equivalentTo"}
is_a: MONDO:1011660 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! megaesophagus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9669 ! Mustela putorius furo
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: in_taxon NCBITaxon:9669 {source="OMIA:000631-9669", source="https://orcid.org/0000-0002-5002-8648"} ! Mustela putorius furo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012155
name: megaesophagus, domestic cat
def: "Megaesophagus that occurs in domestic cat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000631-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011660 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! megaesophagus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000631-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012156
name: megaesophagus, horse
def: "Megaesophagus that occurs in horse." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000631-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011660 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! megaesophagus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9796 ! Equus caballus
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000631-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012157
name: megaesophagus, llama
def: "Megaesophagus that occurs in llama." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000631-9844 {source="MONDO:equivalentTo"}
is_a: MONDO:1011660 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! megaesophagus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9844 ! Lama glama
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: in_taxon NCBITaxon:9844 {source="OMIA:000631-9844", source="https://orcid.org/0000-0002-5002-8648"} ! Lama glama
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012158
name: megaesophagus, cattle
def: "Megaesophagus that occurs in cattle." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000631-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011660 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! megaesophagus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9913 ! Bos taurus
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000631-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012159
name: megaesophagus, goat
def: "Megaesophagus that occurs in goat." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000631-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011660 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! megaesophagus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9925 ! Capra hircus
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000631-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012160
name: megaesophagus, sheep
def: "Megaesophagus that occurs in sheep." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000631-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011660 {source="OMIA:000631", source="https://orcid.org/0000-0002-5002-8648"} ! megaesophagus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9940 ! Ovis aries
intersection_of: MONDO:0700097 MONDO:0001656 ! cross-species analog megaesophagus
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000631-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012161
name: cutaneous malignant melanoma in Sinclair swine, pig
def: "Cutaneous malignant melanoma that occurs in Sinclair swine." [OMIA:000633-9823]
xref: OMIA:000633-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:0700132 {source="OMIA:000633", source="https://orcid.org/0000-0002-5002-8648"} ! melanoma, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000633-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012162
name: congenital melanoma, pig
xref: OMIA:000634-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011811 {source="OMIA:000634", source="https://orcid.org/0000-0002-5002-8648"} ! congenital melanoma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000634-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012163
name: micromelia, ducks
xref: OMIA:000648-8835 {source="MONDO:equivalentTo"}
is_a: MONDO:1011765 {source="OMIA:000648", source="https://orcid.org/0000-0002-5002-8648"} ! micromelia, non-human animal
relationship: in_taxon NCBITaxon:8835 {source="OMIA:000648-8835", source="https://orcid.org/0000-0002-5002-8648"} ! Anas
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012164
name: micromelia, chicken
xref: OMIA:000648-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011765 {source="OMIA:000648", source="https://orcid.org/0000-0002-5002-8648"} ! micromelia, non-human animal
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000648-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012165
name: micromelia, Japanese quail
xref: OMIA:000648-93934 {source="MONDO:equivalentTo"}
is_a: MONDO:1011765 {source="OMIA:000648", source="https://orcid.org/0000-0002-5002-8648"} ! micromelia, non-human animal
relationship: in_taxon NCBITaxon:93934 {source="OMIA:000648-93934", source="https://orcid.org/0000-0002-5002-8648"} ! Coturnix japonica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012166
name: mitral valve disease, dog
xref: OMIA:000654-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011643 {source="OMIA:000654", source="https://orcid.org/0000-0002-5002-8648"} ! mitral valve disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000654-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012167
name: lower motor neuron disease, dog
xref: OMIA:000662-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011848 {source="OMIA:000662", source="https://orcid.org/0000-0002-5002-8648"} ! lower motor neuron disease, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000662-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012168
name: lower motor neuron disease, horse
xref: OMIA:000662-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011848 {source="OMIA:000662", source="https://orcid.org/0000-0002-5002-8648"} ! lower motor neuron disease, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000662-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012169
name: lower motor neuron disease, pig
xref: OMIA:000662-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011848 {source="OMIA:000662", source="https://orcid.org/0000-0002-5002-8648"} ! lower motor neuron disease, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000662-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012170
name: lower motor neuron disease, sheep
xref: OMIA:000662-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011848 {source="OMIA:000662", source="https://orcid.org/0000-0002-5002-8648"} ! lower motor neuron disease, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000662-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012171
name: muscle contracture and chondrodysplasia, cattle
xref: OMIA:000675-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011947 {source="OMIA:000675", source="https://orcid.org/0000-0002-5002-8648"} ! muscle contracture and chondrodysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000675-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012172
name: shivers, horse
xref: OMIA:000676-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011926 {source="OMIA:000676", source="https://orcid.org/0000-0002-5002-8648"} ! shivers, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000676-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012173
name: dysphagia-associated muscular dystrophy, dog
xref: OMIA:000681-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011790 {source="OMIA:000681", source="https://orcid.org/0000-0002-5002-8648"} ! dysphagia-associated muscular dystrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000681-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012174
name: myasthenia, Amur tiger
xref: OMIA:000684-74533 {source="MONDO:equivalentTo"}
is_a: MONDO:1011849 {source="OMIA:000684", source="https://orcid.org/0000-0002-5002-8648"} ! myasthenia, non-human animal
relationship: in_taxon NCBITaxon:74533 {source="OMIA:000684-74533", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera tigris altaica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012175
name: myasthenia, dog
xref: OMIA:000684-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011849 {source="OMIA:000684", source="https://orcid.org/0000-0002-5002-8648"} ! myasthenia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000684-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012176
name: myasthenia, domestic cat
xref: OMIA:000684-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011849 {source="OMIA:000684", source="https://orcid.org/0000-0002-5002-8648"} ! myasthenia, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000684-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012177
name: myoclonus epilepsy of Lafora, fennec fox
xref: OMIA:000690-68732 {source="MONDO:equivalentTo"}
is_a: MONDO:1011627 {source="OMIA:000690", source="https://orcid.org/0000-0002-5002-8648"} ! myoclonus epilepsy of Lafora, non-human animal
relationship: in_taxon NCBITaxon:68732 {source="OMIA:000690-68732", source="https://orcid.org/0000-0002-5002-8648"} ! Vulpes zerda
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012178
name: myoclonus epilepsy of Lafora, dog
xref: OMIA:000690-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011627 {source="OMIA:000690", source="https://orcid.org/0000-0002-5002-8648"} ! myoclonus epilepsy of Lafora, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000690-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012179
name: myoclonus epilepsy of Lafora, domestic cat
xref: OMIA:000690-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011627 {source="OMIA:000690", source="https://orcid.org/0000-0002-5002-8648"} ! myoclonus epilepsy of Lafora, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000690-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012180
name: myoclonus epilepsy of Lafora, Eurasian elk
xref: OMIA:000690-9852 {source="MONDO:equivalentTo"}
is_a: MONDO:1011627 {source="OMIA:000690", source="https://orcid.org/0000-0002-5002-8648"} ! myoclonus epilepsy of Lafora, non-human animal
relationship: in_taxon NCBITaxon:9852 {source="OMIA:000690-9852", source="https://orcid.org/0000-0002-5002-8648"} ! Alces alces
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012181
name: myoclonus epilepsy of Lafora, cattle
xref: OMIA:000690-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011627 {source="OMIA:000690", source="https://orcid.org/0000-0002-5002-8648"} ! myoclonus epilepsy of Lafora, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000690-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012182
name: mitochondrial myopathy, dog
xref: OMIA:000695-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011791 {source="OMIA:000695", source="https://orcid.org/0000-0002-5002-8648"} ! mitochondrial myopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000695-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012183
name: subacute progressive myopathy, dog
xref: OMIA:000696-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011792 {source="OMIA:000696", source="https://orcid.org/0000-0002-5002-8648"} ! subacute progressive myopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000696-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012184
name: navicular disease, horse
xref: OMIA:000704-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011948 {source="OMIA:000704", source="https://orcid.org/0000-0002-5002-8648"} ! navicular disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000704-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012185
name: necrotising myelopathy, dog
xref: OMIA:000706-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011850 {source="OMIA:000706", source="https://orcid.org/0000-0002-5002-8648"} ! necrotising myelopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000706-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012186
name: nephropathy, dog
xref: OMIA:000710-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011907 {source="OMIA:000710", source="https://orcid.org/0000-0002-5002-8648"} ! nephropathy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000710-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012187
name: nephropathy, pig
xref: OMIA:000710-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011907 {source="OMIA:000710", source="https://orcid.org/0000-0002-5002-8648"} ! nephropathy, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000710-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012188
name: nephropathy, sheep
xref: OMIA:000710-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011907 {source="OMIA:000710", source="https://orcid.org/0000-0002-5002-8648"} ! nephropathy, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000710-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012189
name: congenital neuromuscular disease, sheep
xref: OMIA:000718-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011851 {source="OMIA:000718", source="https://orcid.org/0000-0002-5002-8648"} ! congenital neuromuscular disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000718-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012190
name: neurogenic muscular atrophy, dog
xref: OMIA:000719-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011852 {source="OMIA:000719", source="https://orcid.org/0000-0002-5002-8648"} ! neurogenic muscular atrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000719-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012191
name: neurological syndrome, dog
xref: OMIA:000720-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011853 {source="OMIA:000720", source="https://orcid.org/0000-0002-5002-8648"} ! neurological syndrome, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000720-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012192
name: neurological syndrome, horse
xref: OMIA:000720-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011853 {source="OMIA:000720", source="https://orcid.org/0000-0002-5002-8648"} ! neurological syndrome, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000720-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012193
name: thalamic-cerebellar neuropathy, sheep
xref: OMIA:000723-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011854 {source="OMIA:000723", source="https://orcid.org/0000-0002-5002-8648"} ! thalamic-cerebellar neuropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000723-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012194
name: occipital dysplasia, dog
xref: OMIA:000732-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011949 {source="OMIA:000732", source="https://orcid.org/0000-0002-5002-8648"} ! occipital dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000732-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012195
name: ocular squamous cell carcinoma, domestic cat
xref: OMIA:000735-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011812 {source="OMIA:000735", source="https://orcid.org/0000-0002-5002-8648"} ! ocular squamous cell carcinoma, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000735-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012196
name: ocular squamous cell carcinoma, horse
xref: OMIA:000735-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011812 {source="OMIA:000735", source="https://orcid.org/0000-0002-5002-8648"} ! ocular squamous cell carcinoma, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000735-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012197
name: ocular squamous cell carcinoma, cattle
xref: OMIA:000735-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011812 {source="OMIA:000735", source="https://orcid.org/0000-0002-5002-8648"} ! ocular squamous cell carcinoma, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000735-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012198
name: ocular squamous cell carcinoma, goat
xref: OMIA:000735-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011812 {source="OMIA:000735", source="https://orcid.org/0000-0002-5002-8648"} ! ocular squamous cell carcinoma, non-human animal
relationship: in_taxon NCBITaxon:9925 {source="OMIA:000735-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012199
name: ocular squamous cell carcinoma, sheep
xref: OMIA:000735-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011812 {source="OMIA:000735", source="https://orcid.org/0000-0002-5002-8648"} ! ocular squamous cell carcinoma, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000735-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012200
name: esophageal motility disorder, dog
xref: OMIA:000738-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011661 {source="OMIA:000738", source="https://orcid.org/0000-0002-5002-8648"} ! esophageal motility disorder, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000738-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012201
name: osteochondroma causing progressive posterior paresis, dog
xref: OMIA:000749-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011950 {source="OMIA:000749", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondroma causing progressive posterior paresis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000749-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012202
name: osteodystrophy, dog
xref: OMIA:000753-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011951 {source="OMIA:000753", source="https://orcid.org/0000-0002-5002-8648"} ! osteodystrophy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000753-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012203
name: osteodystrophy, domestic cat
xref: OMIA:000753-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011951 {source="OMIA:000753", source="https://orcid.org/0000-0002-5002-8648"} ! osteodystrophy, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000753-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012204
name: osteodystrophy, cattle
xref: OMIA:000753-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011951 {source="OMIA:000753", source="https://orcid.org/0000-0002-5002-8648"} ! osteodystrophy, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000753-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012205
name: osteodystrophy, rabbit
xref: OMIA:000753-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011951 {source="OMIA:000753", source="https://orcid.org/0000-0002-5002-8648"} ! osteodystrophy, non-human animal
relationship: in_taxon NCBITaxon:9986 {source="OMIA:000753-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012206
name: paroxysm, chicken
xref: OMIA:000772-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011628 {source="OMIA:000772", source="https://orcid.org/0000-0002-5002-8648"} ! paroxysm, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:000772-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012207
name: perosomus elumbis, dog
xref: OMIA:000789-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011668 {source="OMIA:000789", source="https://orcid.org/0000-0002-5002-8648"} ! perosomus elumbis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000789-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012208
name: perosomus elumbis, horse
xref: OMIA:000789-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011668 {source="OMIA:000789", source="https://orcid.org/0000-0002-5002-8648"} ! perosomus elumbis, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000789-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012209
name: perosomus elumbis, pig
xref: OMIA:000789-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011668 {source="OMIA:000789", source="https://orcid.org/0000-0002-5002-8648"} ! perosomus elumbis, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000789-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012210
name: perosomus elumbis, cattle
xref: OMIA:000789-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011668 {source="OMIA:000789", source="https://orcid.org/0000-0002-5002-8648"} ! perosomus elumbis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000789-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012211
name: perosomus elumbis, sheep
xref: OMIA:000789-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011668 {source="OMIA:000789", source="https://orcid.org/0000-0002-5002-8648"} ! perosomus elumbis, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000789-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012212
name: persistent right aortic arch, dog
xref: OMIA:000794-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011644 {source="OMIA:000794", source="https://orcid.org/0000-0002-5002-8648"} ! persistent right aortic arch, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000794-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012213
name: persistent right aortic arch, domestic cat
xref: OMIA:000794-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011644 {source="OMIA:000794", source="https://orcid.org/0000-0002-5002-8648"} ! persistent right aortic arch, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000794-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012214
name: persistent right aortic arch, puma
xref: OMIA:000794-9696 {source="MONDO:equivalentTo"}
is_a: MONDO:1011644 {source="OMIA:000794", source="https://orcid.org/0000-0002-5002-8648"} ! persistent right aortic arch, non-human animal
relationship: in_taxon NCBITaxon:9696 {source="OMIA:000794-9696", source="https://orcid.org/0000-0002-5002-8648"} ! Puma concolor
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012215
name: persistent right aortic arch, horse
xref: OMIA:000794-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011644 {source="OMIA:000794", source="https://orcid.org/0000-0002-5002-8648"} ! persistent right aortic arch, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000794-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012216
name: platelet function defect, cattle
xref: OMIA:000803-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011691 {source="OMIA:000803", source="https://orcid.org/0000-0002-5002-8648"} ! platelet function defect, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000803-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012217
name: polyarthritis, dog
xref: OMIA:000805-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011952 {source="OMIA:000805", source="https://orcid.org/0000-0002-5002-8648"} ! polyarthritis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000805-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012218
name: polyarthritis, domestic cat
xref: OMIA:000805-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011952 {source="OMIA:000805", source="https://orcid.org/0000-0002-5002-8648"} ! polyarthritis, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000805-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012219
name: polycystic mononephrosis, dog
xref: OMIA:000808-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011908 {source="OMIA:000808", source="https://orcid.org/0000-0002-5002-8648"} ! polycystic mononephrosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000808-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012220
name: distal sensorimotor polyneuropathy, dog
xref: OMIA:000813-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011855 {source="OMIA:000813", source="https://orcid.org/0000-0002-5002-8648"} ! distal sensorimotor polyneuropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000813-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012221
name: portosystemic hepatic encephalopathy, dog
xref: OMIA:000816-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011777 {source="OMIA:000816", source="https://orcid.org/0000-0002-5002-8648"} ! portosystemic hepatic encephalopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000816-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012222
name: primary seborrhea-oleosa, domestic cat
xref: OMIA:000822-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011740 {source="OMIA:000822", source="https://orcid.org/0000-0002-5002-8648"} ! primary seborrhea-oleosa, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000822-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012223
name: progressive axonopathy, dog
xref: OMIA:000825-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011856 {source="OMIA:000825", source="https://orcid.org/0000-0002-5002-8648"} ! progressive axonopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000825-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012224
name: progressive cerebellar abiotrophy, pig
xref: OMIA:000826-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011857 {source="OMIA:000826", source="https://orcid.org/0000-0002-5002-8648"} ! progressive cerebellar abiotrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000826-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012225
name: progressive myopathy, pig
xref: OMIA:000829-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011793 {source="OMIA:000829", source="https://orcid.org/0000-0002-5002-8648"} ! progressive myopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000829-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012226
name: progressive retinal atrophy, dog
xref: OMIA:000830-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011977 {source="OMIA:000830", source="https://orcid.org/0000-0002-5002-8648"} ! progressive retinal atrophy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000830-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012227
name: progressive retinal atrophy, domestic cat
xref: OMIA:000830-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011977 {source="OMIA:000830", source="https://orcid.org/0000-0002-5002-8648"} ! progressive retinal atrophy, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000830-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012228
name: progressive retinal atrophy, sheep
xref: OMIA:000830-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011977 {source="OMIA:000830", source="https://orcid.org/0000-0002-5002-8648"} ! progressive retinal atrophy, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000830-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012229
name: progressive spinal myelopathy, cattle
xref: OMIA:000832-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011858 {source="OMIA:000832", source="https://orcid.org/0000-0002-5002-8648"} ! progressive spinal myelopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000832-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012230
name: protein C deficiency, horse
xref: OMIA:000835-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011692 {source="OMIA:000835", source="https://orcid.org/0000-0002-5002-8648"} ! protein C deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000835-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012231
name: pulmonary adenomatosis, dog
xref: OMIA:000840-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011927 {source="OMIA:000840", source="https://orcid.org/0000-0002-5002-8648"} ! pulmonary adenomatosis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000840-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012232
name: pulmonary adenomatosis, cattle
xref: OMIA:000840-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011927 {source="OMIA:000840", source="https://orcid.org/0000-0002-5002-8648"} ! pulmonary adenomatosis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000840-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012233
name: quaking, golden hamster
xref: OMIA:000846-10036 {source="MONDO:equivalentTo"}
is_a: MONDO:1011629 {source="OMIA:000846", source="https://orcid.org/0000-0002-5002-8648"} ! quaking, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:10036 {source="OMIA:000846-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Mesocricetus auratus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012234
name: reduced glutathione deficiency due to GCS deficiency, sheep
xref: OMIA:000853-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011693 {source="OMIA:000853", source="https://orcid.org/0000-0002-5002-8648"} ! reduced glutathione deficiency due to GCS deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000853-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012235
name: renal disease, dog
def: "Kidney disorder that occurs in dogs." [MONDO:patterns/nonhuman_disease]
xref: OMIA:000856-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011909 {source="OMIA:000856", source="https://orcid.org/0000-0002-5002-8648"} ! renal disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0005240 ! cross-species analog kidney disorder
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000856-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012236
name: renal dysplasia and bladder aplasia-hypoplasia, sheep
xref: OMIA:000857-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011910 {source="OMIA:000857", source="https://orcid.org/0000-0002-5002-8648"} ! renal dysplasia and bladder aplasia-hypoplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000857-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012237
name: renal insufficiency, dog
xref: OMIA:000859-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011911 {source="OMIA:000859", source="https://orcid.org/0000-0002-5002-8648"} ! renal insufficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000859-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012238
name: renal nephropathy, dog
xref: OMIA:000860-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011912 {source="OMIA:000860", source="https://orcid.org/0000-0002-5002-8648"} ! renal nephropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000860-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012239
name: central retinal degeneration, cheetah
xref: OMIA:000867-32536 {source="MONDO:equivalentTo"}
is_a: MONDO:1011978 {source="OMIA:000867", source="https://orcid.org/0000-0002-5002-8648"} ! central retinal degeneration, non-human animal
relationship: in_taxon NCBITaxon:32536 {source="OMIA:000867-32536", source="https://orcid.org/0000-0002-5002-8648"} ! Acinonyx jubatus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012240
name: central retinal degeneration, domestic cat
xref: OMIA:000867-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011978 {source="OMIA:000867", source="https://orcid.org/0000-0002-5002-8648"} ! central retinal degeneration, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000867-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012241
name: retinal dysplasia, dog
xref: OMIA:000868-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011979 {source="OMIA:000868", source="https://orcid.org/0000-0002-5002-8648"} ! retinal dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000868-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012242
name: retinal dystrophy, dog
xref: OMIA:000869-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011980 {source="OMIA:000869", source="https://orcid.org/0000-0002-5002-8648"} ! retinal dystrophy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000869-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012243
name: retinal dystrophy, domestic cat
xref: OMIA:000869-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011980 {source="OMIA:000869", source="https://orcid.org/0000-0002-5002-8648"} ! retinal dystrophy, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000869-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012244
name: rod-cone degeneration, domestic guinea pig
xref: OMIA:000880-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1011981 {source="OMIA:000880", source="https://orcid.org/0000-0002-5002-8648"} ! rod-cone degeneration, non-human animal
relationship: in_taxon NCBITaxon:10141 {source="OMIA:000880-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012245
name: rod-cone degeneration, domestic cat
xref: OMIA:000880-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011981 {source="OMIA:000880", source="https://orcid.org/0000-0002-5002-8648"} ! rod-cone degeneration, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000880-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012246
name: rod-cone dysplasia, dog
xref: OMIA:000881-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011982 {source="OMIA:000881", source="https://orcid.org/0000-0002-5002-8648"} ! rod-cone dysplasia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000881-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012247
name: rod-cone dysplasia, domestic cat
xref: OMIA:000881-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011982 {source="OMIA:000881", source="https://orcid.org/0000-0002-5002-8648"} ! rod-cone dysplasia, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000881-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012248
name: sarcoid, ass
xref: OMIA:000888-9793 {source="MONDO:equivalentTo"}
is_a: MONDO:1011813 {source="OMIA:000888", source="https://orcid.org/0000-0002-5002-8648"} ! sarcoid, non-human animal
relationship: in_taxon NCBITaxon:9793 {source="OMIA:000888-9793", source="https://orcid.org/0000-0002-5002-8648"} ! Equus asinus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012249
name: sarcoid, horse
xref: OMIA:000888-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011813 {source="OMIA:000888", source="https://orcid.org/0000-0002-5002-8648"} ! sarcoid, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000888-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012250
name: spastic lameness, cattle
xref: OMIA:000926-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011794 {source="OMIA:000926", source="https://orcid.org/0000-0002-5002-8648"} ! spastic lameness, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000926-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012251
name: congenital lethal spasms, cattle
xref: OMIA:000927-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011630 {source="OMIA:000927", source="https://orcid.org/0000-0002-5002-8648"} ! congenital lethal spasms, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000927-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012252
name: spastic paresis, pig
xref: OMIA:000928-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011859 {source="OMIA:000928", source="https://orcid.org/0000-0002-5002-8648"} ! spastic paresis, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000928-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012253
name: spastic paresis, cattle
xref: OMIA:000928-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011859 {source="OMIA:000928", source="https://orcid.org/0000-0002-5002-8648"} ! spastic paresis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000928-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012254
name: spastic syndrome, cattle
xref: OMIA:000929-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011860 {source="OMIA:000929", source="https://orcid.org/0000-0002-5002-8648"} ! spastic syndrome, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000929-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012255
name: spastic syndrome, sheep
xref: OMIA:000929-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011860 {source="OMIA:000929", source="https://orcid.org/0000-0002-5002-8648"} ! spastic syndrome, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:000929-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012256
name: spina bifida with myelomeningocele, cattle
xref: OMIA:000935-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011669 {source="OMIA:000935", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida with myelomeningocele, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000935-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012257
name: spina bifida with raduschisis, domestic cat
xref: OMIA:000936-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011670 {source="OMIA:000936", source="https://orcid.org/0000-0002-5002-8648"} ! spina bifida with raduschisis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000936-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012258
name: spinal dysplasia, domestic cat
xref: OMIA:000937-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011953 {source="OMIA:000937", source="https://orcid.org/0000-0002-5002-8648"} ! spinal dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000937-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012259
name: spinal dysraphism, dog
xref: OMIA:000938-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011671 {source="OMIA:000938", source="https://orcid.org/0000-0002-5002-8648"} ! spinal dysraphism, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000938-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012260
name: spinal dysraphism, cattle
xref: OMIA:000938-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011671 {source="OMIA:000938", source="https://orcid.org/0000-0002-5002-8648"} ! spinal dysraphism, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000938-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012261
name: stringhalt, horse
xref: OMIA:000950-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011631 {source="OMIA:000950", source="https://orcid.org/0000-0002-5002-8648"} ! stringhalt, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000950-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012262
name: stringhalt, cattle
xref: OMIA:000950-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011631 {source="OMIA:000950", source="https://orcid.org/0000-0002-5002-8648"} ! stringhalt, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000950-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012263
name: tapetal degeneration, dog
xref: OMIA:000980-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011983 {source="OMIA:000980", source="https://orcid.org/0000-0002-5002-8648"} ! tapetal degeneration, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000980-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012264
name: androgen insensitivity syndrome, dog
synonym: "AIS, dog" EXACT ABBREVIATION [OMIA:000991-9615]
xref: OMIA:000991-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011919 {source="OMIA:000991", source="https://orcid.org/0000-0002-5002-8648"} ! androgen insensitivity syndrome, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:000991-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012265
name: androgen insensitivity syndrome, domestic cat
synonym: "AIS, domestic cat" EXACT ABBREVIATION [OMIA:000991-9685]
xref: OMIA:000991-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011919 {source="OMIA:000991", source="https://orcid.org/0000-0002-5002-8648"} ! androgen insensitivity syndrome, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:000991-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012266
name: androgen insensitivity syndrome, horse
synonym: "AIS, horse" EXACT ABBREVIATION [OMIA:000991-9796]
xref: OMIA:000991-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011919 {source="OMIA:000991", source="https://orcid.org/0000-0002-5002-8648"} ! androgen insensitivity syndrome, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:000991-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012267
name: androgen insensitivity syndrome, pig
synonym: "AIS, pig" EXACT ABBREVIATION [OMIA:000991-9823]
xref: OMIA:000991-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011919 {source="OMIA:000991", source="https://orcid.org/0000-0002-5002-8648"} ! androgen insensitivity syndrome, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:000991-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012268
name: androgen insensitivity syndrome, cattle
synonym: "AIS, cattle" EXACT ABBREVIATION [OMIA:000991-9913]
xref: OMIA:000991-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011919 {source="OMIA:000991", source="https://orcid.org/0000-0002-5002-8648"} ! androgen insensitivity syndrome, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:000991-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012269
name: tetanic torticollar spasms, turkey
xref: OMIA:000993-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1011632 {source="OMIA:000993", source="https://orcid.org/0000-0002-5002-8648"} ! tetanic torticollar spasms, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9103 {source="OMIA:000993-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012270
name: thrombasthenia, dog
xref: OMIA:001000-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011694 {source="OMIA:001000", source="https://orcid.org/0000-0002-5002-8648"} ! thrombasthenia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001000-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012271
name: thrombasthenia, domestic cat
xref: OMIA:001000-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011694 {source="OMIA:001000", source="https://orcid.org/0000-0002-5002-8648"} ! thrombasthenia, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001000-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012272
name: thrombasthenia, horse
xref: OMIA:001000-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011694 {source="OMIA:001000", source="https://orcid.org/0000-0002-5002-8648"} ! thrombasthenia, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001000-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012273
name: thrombopathia, dog
xref: OMIA:001003-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011695 {source="OMIA:001003", source="https://orcid.org/0000-0002-5002-8648"} ! thrombopathia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001003-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012274
name: thrombopathia, pig
xref: OMIA:001003-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011695 {source="OMIA:001003", source="https://orcid.org/0000-0002-5002-8648"} ! thrombopathia, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001003-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012275
name: tibial dyschondroplasia, chicken
xref: OMIA:001007-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011954 {source="OMIA:001007", source="https://orcid.org/0000-0002-5002-8648"} ! tibial dyschondroplasia, non-human animal
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001007-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012276
name: tibial dyschondroplasia, turkey
xref: OMIA:001007-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1011954 {source="OMIA:001007", source="https://orcid.org/0000-0002-5002-8648"} ! tibial dyschondroplasia, non-human animal
relationship: in_taxon NCBITaxon:9103 {source="OMIA:001007-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012277
name: tremor, ducks
xref: OMIA:001016-8835 {source="MONDO:equivalentTo"}
is_a: MONDO:1011861 {source="OMIA:001016", source="https://orcid.org/0000-0002-5002-8648"} ! tremor, non-human animal
relationship: in_taxon NCBITaxon:8835 {source="OMIA:001016-8835", source="https://orcid.org/0000-0002-5002-8648"} ! Anas
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012278
name: tremor, chicken
xref: OMIA:001016-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011861 {source="OMIA:001016", source="https://orcid.org/0000-0002-5002-8648"} ! tremor, non-human animal
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001016-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012279
name: tremor, dog
xref: OMIA:001016-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011861 {source="OMIA:001016", source="https://orcid.org/0000-0002-5002-8648"} ! tremor, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001016-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012280
name: tremor, domestic cat
xref: OMIA:001016-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011861 {source="OMIA:001016", source="https://orcid.org/0000-0002-5002-8648"} ! tremor, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001016-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012281
name: tremor, pig
xref: OMIA:001016-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011861 {source="OMIA:001016", source="https://orcid.org/0000-0002-5002-8648"} ! tremor, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001016-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012282
name: tremor, cattle
xref: OMIA:001016-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011861 {source="OMIA:001016", source="https://orcid.org/0000-0002-5002-8648"} ! tremor, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001016-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012283
name: tremor syndrome with central axonopathy, dog
xref: OMIA:001017-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011862 {source="OMIA:001017", source="https://orcid.org/0000-0002-5002-8648"} ! tremor syndrome with central axonopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001017-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012284
name: stomach ulcer, pig
def: "Stomach ulcer that occurs in pigs." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001027-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011662 {source="OMIA:001027", source="https://orcid.org/0000-0002-5002-8648"} ! stomach ulcer, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0001126 ! cross-species analog gastric ulcer
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001027-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012285
name: ventricular arrhythmias and sudden death, dog
xref: OMIA:001040-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011645 {source="OMIA:001040", source="https://orcid.org/0000-0002-5002-8648"} ! ventricular arrhythmias and sudden death, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001040-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012286
name: warts between hooves, cattle
xref: OMIA:001060-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011766 {source="OMIA:001060", source="https://orcid.org/0000-0002-5002-8648"} ! warts between hooves, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001060-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012287
name: progressive ataxia, dog
xref: OMIA:001091-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011633 {source="OMIA:001091", source="https://orcid.org/0000-0002-5002-8648"} ! progressive ataxia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001091-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012288
name: progressive ataxia, pig
xref: OMIA:001091-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011633 {source="OMIA:001091", source="https://orcid.org/0000-0002-5002-8648"} ! progressive ataxia, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001091-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012289
name: progressive ataxia, cattle
xref: OMIA:001091-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011633 {source="OMIA:001091", source="https://orcid.org/0000-0002-5002-8648"} ! progressive ataxia, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001091-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012290
name: chronic active hepatitis, dog
xref: OMIA:001093-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011778 {source="OMIA:001093", source="https://orcid.org/0000-0002-5002-8648"} ! chronic active hepatitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001093-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012291
name: neonatal hepatitis, dog
xref: OMIA:001094-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011779 {source="OMIA:001094", source="https://orcid.org/0000-0002-5002-8648"} ! neonatal hepatitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001094-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012292
name: subacute necrotising encephalopathy of Leigh, dog
xref: OMIA:001097-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011863 {source="OMIA:001097", source="https://orcid.org/0000-0002-5002-8648"} ! subacute necrotising encephalopathy of Leigh, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001097-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012293
name: subacute necrotising encephalopathy of Leigh, cattle
xref: OMIA:001097-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011863 {source="OMIA:001097", source="https://orcid.org/0000-0002-5002-8648"} ! subacute necrotising encephalopathy of Leigh, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001097-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012294
name: polymicrogyria and asymmetrical ventricular dilation, dog
xref: OMIA:001098-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011864 {source="OMIA:001098", source="https://orcid.org/0000-0002-5002-8648"} ! polymicrogyria and asymmetrical ventricular dilation, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001098-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012295
name: axonopathy, cattle
xref: OMIA:001106-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011865 {source="OMIA:001106", source="https://orcid.org/0000-0002-5002-8648"} ! axonopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001106-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012296
name: imperforate hymen, horse
xref: OMIA:001107-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1010279 {source="OMIA:001107", source="https://orcid.org/0000-0002-5002-8648"} ! hymen, imperforate, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001107-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012297
name: imperforate hymen, cattle
xref: OMIA:001107-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1010279 {source="OMIA:001107", source="https://orcid.org/0000-0002-5002-8648"} ! hymen, imperforate, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001107-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012298
name: displaced abomasum, water buffalo
xref: OMIA:001119-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1011663 {source="OMIA:001119", source="https://orcid.org/0000-0002-5002-8648"} ! displaced abomasum, non-human animal
relationship: in_taxon NCBITaxon:89462 {source="OMIA:001119-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012299
name: displaced abomasum, cattle
xref: OMIA:001119-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011663 {source="OMIA:001119", source="https://orcid.org/0000-0002-5002-8648"} ! displaced abomasum, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001119-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012300
name: displaced abomasum, sheep
xref: OMIA:001119-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011663 {source="OMIA:001119", source="https://orcid.org/0000-0002-5002-8648"} ! displaced abomasum, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001119-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012301
name: spondylosis deformans, dog
xref: OMIA:001132-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011955 {source="OMIA:001132", source="https://orcid.org/0000-0002-5002-8648"} ! spondylosis deformans, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001132-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012302
name: spondylosis deformans, domestic cat
xref: OMIA:001132-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011955 {source="OMIA:001132", source="https://orcid.org/0000-0002-5002-8648"} ! spondylosis deformans, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001132-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012303
name: masticatory muscle myositis, dog
xref: OMIA:001134-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011795 {source="OMIA:001134", source="https://orcid.org/0000-0002-5002-8648"} ! masticatory muscle myositis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001134-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012304
name: hypocatalasia, domestic guinea pig
xref: OMIA:001138-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1011714 {source="OMIA:001138", source="https://orcid.org/0000-0002-5002-8648"} ! hypocatalasia, non-human animal
relationship: in_taxon NCBITaxon:10141 {source="OMIA:001138-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012305
name: hypocatalasia, dog
xref: OMIA:001138-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011714 {source="OMIA:001138", source="https://orcid.org/0000-0002-5002-8648"} ! hypocatalasia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001138-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012306
name: cutaneous papillomatosis, horse
xref: OMIA:001147-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011741 {source="OMIA:001147", source="https://orcid.org/0000-0002-5002-8648"} ! cutaneous papillomatosis, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001147-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012307
name: cutaneous papillomatosis, cattle
xref: OMIA:001147-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011741 {source="OMIA:001147", source="https://orcid.org/0000-0002-5002-8648"} ! cutaneous papillomatosis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001147-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012308
name: self-mutilation syndrome, horse
xref: OMIA:001161-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011634 {source="OMIA:001161", source="https://orcid.org/0000-0002-5002-8648"} ! self-mutilation syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001161-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012309
name: degenerative myeloencephalopathy, horse
xref: OMIA:001163-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011866 {source="OMIA:001163", source="https://orcid.org/0000-0002-5002-8648"} ! degenerative myeloencephalopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001163-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012310
name: neuronal abiotrophy, dog
xref: OMIA:001164-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011867 {source="OMIA:001164", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal abiotrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001164-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012311
name: motor neuron disease, dog
xref: OMIA:001165-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011868 {source="OMIA:001165", source="https://orcid.org/0000-0002-5002-8648"} ! motor neuron disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001165-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012312
name: congenital erythropoietic porphyria, domestic cat
xref: OMIA:001175-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011742 {source="OMIA:001175", source="https://orcid.org/0000-0002-5002-8648"} ! congenital erythropoietic porphyria, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001175-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012313
name: congenital erythropoietic porphyria, pig
xref: OMIA:001175-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011742 {source="OMIA:001175", source="https://orcid.org/0000-0002-5002-8648"} ! congenital erythropoietic porphyria, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001175-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012314
name: congenital erythropoietic porphyria, cattle
xref: OMIA:001175-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011742 {source="OMIA:001175", source="https://orcid.org/0000-0002-5002-8648"} ! congenital erythropoietic porphyria, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001175-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012315
name: congenital erythropoietic porphyria, zebu cattle
xref: OMIA:001175-9915 {source="MONDO:equivalentTo"}
is_a: MONDO:1011742 {source="OMIA:001175", source="https://orcid.org/0000-0002-5002-8648"} ! congenital erythropoietic porphyria, non-human animal
relationship: in_taxon NCBITaxon:9915 {source="OMIA:001175-9915", source="https://orcid.org/0000-0002-5002-8648"} ! Bos indicus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012316
name: stomatocytosis and gastrits, dog
xref: OMIA:001178-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011696 {source="OMIA:001178", source="https://orcid.org/0000-0002-5002-8648"} ! stomatocytosis and gastrits, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001178-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012317
name: retinal and skeletal dysplasia, dog
xref: OMIA:001182-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011984 {source="OMIA:001182", source="https://orcid.org/0000-0002-5002-8648"} ! retinal and skeletal dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001182-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012318
name: nodular dermatofibrosis and kidney disease, dog
xref: OMIA:001195-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011743 {source="OMIA:001195", source="https://orcid.org/0000-0002-5002-8648"} ! nodular dermatofibrosis and kidney disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001195-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012319
name: high-frequency tremor, macaques
xref: OMIA:001200-9539 {source="MONDO:equivalentTo"}
is_a: MONDO:1011796 {source="OMIA:001200", source="https://orcid.org/0000-0002-5002-8648"} ! high-frequency tremor, non-human animal
relationship: in_taxon NCBITaxon:9539 {source="OMIA:001200-9539", source="https://orcid.org/0000-0002-5002-8648"} ! Macaca
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012320
name: high-frequency tremor, pig
xref: OMIA:001200-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011796 {source="OMIA:001200", source="https://orcid.org/0000-0002-5002-8648"} ! high-frequency tremor, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001200-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012321
name: pseudocholinesterase deficiency, horse
xref: OMIA:001205-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011715 {source="OMIA:001205", source="https://orcid.org/0000-0002-5002-8648"} ! pseudocholinesterase deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001205-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012322
name: laryngeal paralysis, dog
xref: OMIA:001206-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011928 {source="OMIA:001206", source="https://orcid.org/0000-0002-5002-8648"} ! laryngeal paralysis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001206-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012323
name: laryngeal paralysis, horse
xref: OMIA:001206-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011928 {source="OMIA:001206", source="https://orcid.org/0000-0002-5002-8648"} ! laryngeal paralysis, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001206-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012324
name: laryngeal paralysis, cattle
xref: OMIA:001206-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011928 {source="OMIA:001206", source="https://orcid.org/0000-0002-5002-8648"} ! laryngeal paralysis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001206-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012325
name: premature senesence, pig
xref: OMIA:001213-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011784 {source="OMIA:001213", source="https://orcid.org/0000-0002-5002-8648"} ! premature senesence, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001213-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012326
name: premature senesence, rabbit
xref: OMIA:001213-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011784 {source="OMIA:001213", source="https://orcid.org/0000-0002-5002-8648"} ! premature senesence, non-human animal
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001213-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012327
name: persistent truncus arteriosus with ventricular septal defect and patent foramen ovale, cattle
xref: OMIA:001218-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011646 {source="OMIA:001218", source="https://orcid.org/0000-0002-5002-8648"} ! persistent truncus arteriosus with ventricular septal defect and patent foramen ovale, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001218-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012328
name: cutaneous and renal vasculopathy, dog
xref: OMIA:001220-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011744 {source="OMIA:001220", source="https://orcid.org/0000-0002-5002-8648"} ! cutaneous and renal vasculopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001220-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012329
name: laminitis, ass
xref: OMIA:001225-9793 {source="MONDO:equivalentTo"}
is_a: MONDO:1011767 {source="OMIA:001225", source="https://orcid.org/0000-0002-5002-8648"} ! laminitis, non-human animal
relationship: in_taxon NCBITaxon:9793 {source="OMIA:001225-9793", source="https://orcid.org/0000-0002-5002-8648"} ! Equus asinus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012330
name: laminitis, horse
xref: OMIA:001225-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011767 {source="OMIA:001225", source="https://orcid.org/0000-0002-5002-8648"} ! laminitis, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001225-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012331
name: laminitis, cattle
xref: OMIA:001225-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011767 {source="OMIA:001225", source="https://orcid.org/0000-0002-5002-8648"} ! laminitis, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001225-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012332
name: hemophagocytic syndrome, dog
xref: OMIA:001229-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011697 {source="OMIA:001229", source="https://orcid.org/0000-0002-5002-8648"} ! hemophagocytic syndrome, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001229-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012333
name: hemophagocytic syndrome, domestic cat
xref: OMIA:001229-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011697 {source="OMIA:001229", source="https://orcid.org/0000-0002-5002-8648"} ! hemophagocytic syndrome, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001229-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012334
name: bone spavin, horse
xref: OMIA:001232-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011768 {source="OMIA:001232", source="https://orcid.org/0000-0002-5002-8648"} ! bone spavin, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001232-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012335
name: bone spavin, red deer
xref: OMIA:001232-9860 {source="MONDO:equivalentTo"}
is_a: MONDO:1011768 {source="OMIA:001232", source="https://orcid.org/0000-0002-5002-8648"} ! bone spavin, non-human animal
relationship: in_taxon NCBITaxon:9860 {source="OMIA:001232-9860", source="https://orcid.org/0000-0002-5002-8648"} ! Cervus elaphus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012336
name: reduced glutathione deficiency due to amino-acid transport defect, sheep
xref: OMIA:001234-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011698 {source="OMIA:001234", source="https://orcid.org/0000-0002-5002-8648"} ! reduced glutathione deficiency due to amino-acid transport defect, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001234-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012337
name: reduced glutathione deficiency, dog
xref: OMIA:001235-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011699 {source="OMIA:001235", source="https://orcid.org/0000-0002-5002-8648"} ! reduced glutathione deficiency, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001235-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012338
name: reduced glutathione deficiency, goat
xref: OMIA:001235-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011699 {source="OMIA:001235", source="https://orcid.org/0000-0002-5002-8648"} ! reduced glutathione deficiency, non-human animal
relationship: in_taxon NCBITaxon:9925 {source="OMIA:001235-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012339
name: reduced glutathione deficiency, sheep
xref: OMIA:001235-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011699 {source="OMIA:001235", source="https://orcid.org/0000-0002-5002-8648"} ! reduced glutathione deficiency, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001235-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012340
name: chronic valvular disease, dog
xref: OMIA:001246-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011647 {source="OMIA:001246", source="https://orcid.org/0000-0002-5002-8648"} ! chronic valvular disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001246-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012341
name: spinal dysmyelination, cattle
xref: OMIA:001247-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011869 {source="OMIA:001247", source="https://orcid.org/0000-0002-5002-8648"} ! spinal dysmyelination, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001247-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012342
name: renal cysts, pig
xref: OMIA:001257-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011913 {source="OMIA:001257", source="https://orcid.org/0000-0002-5002-8648"} ! renal cysts, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001257-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012343
name: gluten-sensitive enteropathy, dog
xref: OMIA:001261-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011664 {source="OMIA:001261", source="https://orcid.org/0000-0002-5002-8648"} ! gluten-sensitive enteropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001261-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012344
name: familial convulsions and ataxia, cattle
xref: OMIA:001270-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011635 {source="OMIA:001270", source="https://orcid.org/0000-0002-5002-8648"} ! familial convulsions and ataxia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001270-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012345
name: comedo syndrome, dog
xref: OMIA:001272-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011745 {source="OMIA:001272", source="https://orcid.org/0000-0002-5002-8648"} ! comedo syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001272-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012346
name: facial eczema, cattle
xref: OMIA:001276-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011746 {source="OMIA:001276", source="https://orcid.org/0000-0002-5002-8648"} ! facial eczema, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001276-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012347
name: facial eczema, sheep
xref: OMIA:001276-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011746 {source="OMIA:001276", source="https://orcid.org/0000-0002-5002-8648"} ! facial eczema, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001276-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012348
name: recessive hypotrichosis, dog
xref: OMIA:001279-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011747 {source="OMIA:001279", source="https://orcid.org/0000-0002-5002-8648"} ! recessive hypotrichosis, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001279-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012349
name: recessive hypotrichosis, pig
xref: OMIA:001279-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011747 {source="OMIA:001279", source="https://orcid.org/0000-0002-5002-8648"} ! recessive hypotrichosis, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001279-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012350
name: polioencephalomyelopathy, dog
xref: OMIA:001280-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011870 {source="OMIA:001280", source="https://orcid.org/0000-0002-5002-8648"} ! polioencephalomyelopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001280-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012351
name: progressive neuronopathy, dog
xref: OMIA:001282-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011871 {source="OMIA:001282", source="https://orcid.org/0000-0002-5002-8648"} ! progressive neuronopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001282-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012352
name: urticaria pigmentosa, domestic cat
xref: OMIA:001289-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011748 {source="OMIA:001289", source="https://orcid.org/0000-0002-5002-8648"} ! urticaria pigmentosa, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001289-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012353
name: hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, horse
xref: OMIA:001290-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011716 {source="OMIA:001290", source="https://orcid.org/0000-0002-5002-8648"} ! hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001290-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012354
name: polyneuropathy, dog
xref: OMIA:001292-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011872 {source="OMIA:001292", source="https://orcid.org/0000-0002-5002-8648"} ! polyneuropathy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001292-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012355
name: polyneuropathy, domestic cat
xref: OMIA:001292-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011872 {source="OMIA:001292", source="https://orcid.org/0000-0002-5002-8648"} ! polyneuropathy, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001292-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012356
name: growth-hormone-receptor deficiency dwarfism, cattle
xref: OMIA:001294-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011956 {source="OMIA:001294", source="https://orcid.org/0000-0002-5002-8648"} ! growth-hormone-receptor deficiency dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001294-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012357
name: hypochondroplastic dwarfism, dog
xref: OMIA:001296-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011957 {source="OMIA:001296", source="https://orcid.org/0000-0002-5002-8648"} ! hypochondroplastic dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001296-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012358
name: early retinal degeneration, dog
xref: OMIA:001297-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011985 {source="OMIA:001297", source="https://orcid.org/0000-0002-5002-8648"} ! early retinal degeneration, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001297-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012359
name: progressive rod-cone degeneration, dog
xref: OMIA:001298-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011986 {source="OMIA:001298", source="https://orcid.org/0000-0002-5002-8648"} ! progressive rod-cone degeneration, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001298-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012360
name: neuronal vacuolar disorder, dog
xref: OMIA:001303-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011873 {source="OMIA:001303", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal vacuolar disorder, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001303-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012361
name: yellow-semen syndrome, turkey
xref: OMIA:001304-9103 {source="MONDO:equivalentTo"}
is_a: MONDO:1011920 {source="OMIA:001304", source="https://orcid.org/0000-0002-5002-8648"} ! yellow-semen syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9103 {source="OMIA:001304-9103", source="https://orcid.org/0000-0002-5002-8648"} ! Meleagris gallopavo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012362
name: photoreceptor dysplasia, dog
xref: OMIA:001311-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011987 {source="OMIA:001311", source="https://orcid.org/0000-0002-5002-8648"} ! photoreceptor dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001311-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012363
name: myopathy of the diaphragmatic muscles, cattle
xref: OMIA:001319-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011797 {source="OMIA:001319", source="https://orcid.org/0000-0002-5002-8648"} ! myopathy of the diaphragmatic muscles, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001319-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012364
name: Laron dwarfism, pig
xref: OMIA:001323-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011958 {source="OMIA:001323", source="https://orcid.org/0000-0002-5002-8648"} ! Laron dwarfism, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001323-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012365
name: Laron dwarfism, cattle
xref: OMIA:001323-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011958 {source="OMIA:001323", source="https://orcid.org/0000-0002-5002-8648"} ! Laron dwarfism, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001323-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012366
name: melanoblastoma, pig
xref: OMIA:001324-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011814 {source="OMIA:001324", source="https://orcid.org/0000-0002-5002-8648"} ! melanoblastoma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001324-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012367
name: protein-losing nephropathy, dog
xref: OMIA:001326-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011914 {source="OMIA:001326", source="https://orcid.org/0000-0002-5002-8648"} ! protein-losing nephropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001326-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012368
name: linear IgA disease, dog
xref: OMIA:001330-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011749 {source="OMIA:001330", source="https://orcid.org/0000-0002-5002-8648"} ! linear IgA disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001330-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012369
name: renal cystadenocarcinoma and nodular dermatofibrosis, dog
xref: OMIA:001335-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011815 {source="OMIA:001335", source="https://orcid.org/0000-0002-5002-8648"} ! renal cystadenocarcinoma and nodular dermatofibrosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001335-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012370
name: degenerative neuromuscular disease, cattle
xref: OMIA:001351-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011874 {source="OMIA:001351", source="https://orcid.org/0000-0002-5002-8648"} ! degenerative neuromuscular disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001351-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012371
name: dysplasia epiphysealis hememelica, dog
xref: OMIA:001361-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011769 {source="OMIA:001361", source="https://orcid.org/0000-0002-5002-8648"} ! dysplasia epiphysealis hememelica, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001361-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012372
name: progressive ataxia with head tremor and seizures, dog
xref: OMIA:001363-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011875 {source="OMIA:001363", source="https://orcid.org/0000-0002-5002-8648"} ! progressive ataxia with head tremor and seizures, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001363-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012373
name: retinal dysplasia and degeneration, chicken
xref: OMIA:001366-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011988 {source="OMIA:001366", source="https://orcid.org/0000-0002-5002-8648"} ! retinal dysplasia and degeneration, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001366-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012374
name: blindness with enlarged globe, chicken
xref: OMIA:001367-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011989 {source="OMIA:001367", source="https://orcid.org/0000-0002-5002-8648"} ! blindness with enlarged globe, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001367-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012375
name: follicular dysplasia and interface dermatitis, dog
xref: OMIA:001369-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011750 {source="OMIA:001369", source="https://orcid.org/0000-0002-5002-8648"} ! follicular dysplasia and interface dermatitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001369-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012376
name: acrochordonous plaque, dog
xref: OMIA:001370-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011751 {source="OMIA:001370", source="https://orcid.org/0000-0002-5002-8648"} ! acrochordonous plaque, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001370-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012377
name: nasal parakeratosis, dog
xref: OMIA:001373-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011752 {source="OMIA:001373", source="https://orcid.org/0000-0002-5002-8648"} ! nasal parakeratosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001373-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012378
name: hereditary pancreatitis, dog
xref: OMIA:001403-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011679 {source="OMIA:001403", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary pancreatitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001403-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012379
name: guttural pouch tympany, horse
xref: OMIA:001408-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011929 {source="OMIA:001408", source="https://orcid.org/0000-0002-5002-8648"} ! guttural pouch tympany, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001408-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012380
name: lymphoproliferative disease, dog
xref: OMIA:001409-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011816 {source="OMIA:001409", source="https://orcid.org/0000-0002-5002-8648"} ! lymphoproliferative disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001409-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012381
name: familial thoracic aortic aneurysm, dog
xref: OMIA:001419-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011648 {source="OMIA:001419", source="https://orcid.org/0000-0002-5002-8648"} ! familial thoracic aortic aneurysm, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001419-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012382
name: retinal dysplasia and persistent primary vitreous, dog
xref: OMIA:001420-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011990 {source="OMIA:001420", source="https://orcid.org/0000-0002-5002-8648"} ! retinal dysplasia and persistent primary vitreous, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001420-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012383
name: trapped neutrophil syndrome, dog
xref: OMIA:001428-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011700 {source="OMIA:001428", source="https://orcid.org/0000-0002-5002-8648"} ! trapped neutrophil syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001428-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012384
name: forelimb-girdle muscular anomaly, cattle
xref: OMIA:001442-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011798 {source="OMIA:001442", source="https://orcid.org/0000-0002-5002-8648"} ! forelimb-girdle muscular anomaly, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001442-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012385
name: inherited periodic spasticity, cattle
xref: OMIA:001453-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011799 {source="OMIA:001453", source="https://orcid.org/0000-0002-5002-8648"} ! inherited periodic spasticity, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001453-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012386
name: recurrent airway obstruction, horse
xref: OMIA:001456-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011930 {source="OMIA:001456", source="https://orcid.org/0000-0002-5002-8648"} ! recurrent airway obstruction, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001456-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012387
name: juvenile with age-dependent emphysema hypotrichosis, pig
xref: OMIA:001458-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011753 {source="OMIA:001458", source="https://orcid.org/0000-0002-5002-8648"} ! juvenile with age-dependent emphysema hypotrichosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001458-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012388
name: unilateral subcortical heterotopia, California sea lion
xref: OMIA:001463-9704 {source="MONDO:equivalentTo"}
is_a: MONDO:1011876 {source="OMIA:001463", source="https://orcid.org/0000-0002-5002-8648"} ! unilateral subcortical heterotopia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9704 {source="OMIA:001463-9704", source="https://orcid.org/0000-0002-5002-8648"} ! Zalophus californianus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012389
name: exercise-induced collapse, dog
xref: OMIA:001466-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011877 {source="OMIA:001466", source="https://orcid.org/0000-0002-5002-8648"} ! exercise-induced collapse, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001466-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012390
name: sensory ataxic neuropathy, dog
xref: OMIA:001467-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011878 {source="OMIA:001467", source="https://orcid.org/0000-0002-5002-8648"} ! sensory ataxic neuropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001467-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012391
name: necrotizing meningoencephalitis, dog
xref: OMIA:001470-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011879 {source="OMIA:001470", source="https://orcid.org/0000-0002-5002-8648"} ! necrotizing meningoencephalitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001470-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012392
name: neonatal encephalopathy with seizures, dog
xref: OMIA:001471-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011880 {source="OMIA:001471", source="https://orcid.org/0000-0002-5002-8648"} ! neonatal encephalopathy with seizures, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001471-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012393
name: growth-hormone deficiency dwarfism, dog
xref: OMIA:001473-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011959 {source="OMIA:001473", source="https://orcid.org/0000-0002-5002-8648"} ! growth-hormone deficiency dwarfism,, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001473-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012394
name: growth-hormone deficiency dwarfism, zebu cattle
xref: OMIA:001473-9915 {source="MONDO:equivalentTo"}
is_a: MONDO:1011959 {source="OMIA:001473", source="https://orcid.org/0000-0002-5002-8648"} ! growth-hormone deficiency dwarfism,, non-human animal
relationship: in_taxon NCBITaxon:9915 {source="OMIA:001473-9915", source="https://orcid.org/0000-0002-5002-8648"} ! Bos indicus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012395
name: rupture of the cranial cruciate ligament, dog
xref: OMIA:001474-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011960 {source="OMIA:001474", source="https://orcid.org/0000-0002-5002-8648"} ! rupture of the cranial cruciate ligament, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001474-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012396
name: reactive perforating collagenosis, domestic cat
xref: OMIA:001476-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011754 {source="OMIA:001476", source="https://orcid.org/0000-0002-5002-8648"} ! reactive perforating collagenosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001476-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012397
name: tomaculous neuropathy, cattle
xref: OMIA:001491-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011881 {source="OMIA:001491", source="https://orcid.org/0000-0002-5002-8648"} ! tomaculous neuropathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001491-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012398
name: segmental axonopathy, sheep
xref: OMIA:001492-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011882 {source="OMIA:001492", source="https://orcid.org/0000-0002-5002-8648"} ! segmental axonopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001492-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012399
name: anal sac gland carcinoma, dog
xref: OMIA:001500-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011817 {source="OMIA:001500", source="https://orcid.org/0000-0002-5002-8648"} ! anal sac gland carcinoma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001500-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012400
name: dilute coat color with neurological defects, dog
xref: OMIA:001501-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011883 {source="OMIA:001501", source="https://orcid.org/0000-0002-5002-8648"} ! dilute coat color with neurological defects, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001501-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012401
name: dilute coat color with neurological defects, horse
xref: OMIA:001501-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011883 {source="OMIA:001501", source="https://orcid.org/0000-0002-5002-8648"} ! dilute coat color with neurological defects, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001501-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012402
name: caprine-like generalized hypoplasia syndrome, cattle
xref: OMIA:001502-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011683 {source="OMIA:001502", source="https://orcid.org/0000-0002-5002-8648"} ! caprine-like generalized hypoplasia syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001502-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012403
name: contractural arachnodactyly, cattle
synonym: "Fawn calf syndrome" EXACT [OMIA:001511-9913]
xref: OMIA:001511-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011800 {source="OMIA:001511", source="https://orcid.org/0000-0002-5002-8648"} ! contractural arachnodactyly, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001511-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012404
name: invasive transitional cell carcinoma, dog
xref: OMIA:001512-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011818 {source="OMIA:001512", source="https://orcid.org/0000-0002-5002-8648"} ! invasive transitional cell carcinoma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001512-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012405
name: chronic myelogenous leukemia, dog
xref: OMIA:001513-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011819 {source="OMIA:001513", source="https://orcid.org/0000-0002-5002-8648"} ! chronic myelogenous leukemia, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001513-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012406
name: chronic myelogenous leukemia, pig
xref: OMIA:001513-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011819 {source="OMIA:001513", source="https://orcid.org/0000-0002-5002-8648"} ! chronic myelogenous leukemia, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001513-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012407
name: acral mutilation syndrome, dog
xref: OMIA:001514-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011884 {source="OMIA:001514", source="https://orcid.org/0000-0002-5002-8648"} ! acral mutilation syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001514-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012408
name: colorectal hamartomatous polyposis and ganglioneuromatosis, dog
xref: OMIA:001515-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011820 {source="OMIA:001515", source="https://orcid.org/0000-0002-5002-8648"} ! colorectal hamartomatous polyposis and ganglioneuromatosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001515-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012409
name: gallbladder mucocele, dog
xref: OMIA:001524-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011780 {source="OMIA:001524", source="https://orcid.org/0000-0002-5002-8648"} ! gallbladder mucocele, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001524-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012410
name: combined deficiency of factors IX and XII, domestic cat
xref: OMIA:001526-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011701 {source="OMIA:001526", source="https://orcid.org/0000-0002-5002-8648"} ! combined deficiency of factors IX and XII, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001526-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012411
name: compulsive disorder, dog
xref: OMIA:001530-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011636 {source="OMIA:001530", source="https://orcid.org/0000-0002-5002-8648"} ! compulsive disorder, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001530-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012412
name: type 2 polysaccharide storage myopathy, horse
xref: OMIA:001537-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011801 {source="OMIA:001537", source="https://orcid.org/0000-0002-5002-8648"} ! type 2 polysaccharide storage myopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001537-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012413
name: neonatal pancytopenia, cattle
xref: OMIA:001539-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011702 {source="OMIA:001539", source="https://orcid.org/0000-0002-5002-8648"} ! neonatal pancytopenia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001539-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012414
name: pulmonary hypoplasia with anasarca, cattle
xref: OMIA:001562-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011717 {source="OMIA:001562", source="https://orcid.org/0000-0002-5002-8648"} ! pulmonary hypoplasia with anasarca, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001562-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012415
name: sebaceous adenitis, dog
xref: OMIA:001563-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011755 {source="OMIA:001563", source="https://orcid.org/0000-0002-5002-8648"} ! sebaceous adenitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001563-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012416
name: Kurosawa and Kusanagi hypercholesterolaemia, rabbit
xref: OMIA:001567-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011718 {source="OMIA:001567", source="https://orcid.org/0000-0002-5002-8648"} ! Kurosawa and Kusanagi hypercholesterolaemia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001567-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012417
name: persistent right aortic arch with subclavian artery and ligamentum arteriosum, dog
xref: OMIA:001570-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011649 {source="OMIA:001570", source="https://orcid.org/0000-0002-5002-8648"} ! persistent right aortic arch with subclavian artery and ligamentum arteriosum, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001570-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012418
name: anal furunculosis, dog
xref: OMIA:001589-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011665 {source="OMIA:001589", source="https://orcid.org/0000-0002-5002-8648"} ! anal furunculosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001589-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012419
name: episodic falling, dog
xref: OMIA:001592-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011885 {source="OMIA:001592", source="https://orcid.org/0000-0002-5002-8648"} ! episodic falling, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001592-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012420
name: brachygnathia, cardiomegaly and renal hypoplasia syndrome, sheep
xref: OMIA:001595-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011961 {source="OMIA:001595", source="https://orcid.org/0000-0002-5002-8648"} ! brachygnathia, cardiomegaly and renal hypoplasia syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001595-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012421
name: neuroaxonal dystrophy with cerebellar abiotrophy, domestic cat
xref: OMIA:001606-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011886 {source="OMIA:001606", source="https://orcid.org/0000-0002-5002-8648"} ! neuroaxonal dystrophy with cerebellar abiotrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001606-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012422
name: exfoliative cutaneous lupus erythematosus, dog
xref: OMIA:001609-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011756 {source="OMIA:001609", source="https://orcid.org/0000-0002-5002-8648"} ! exfoliative cutaneous lupus erythematosus, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001609-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012423
name: vitamin D-deficiency rickets, non-type I, non-type II, domestic cat
xref: OMIA:001614-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011962 {source="OMIA:001614", source="https://orcid.org/0000-0002-5002-8648"} ! vitamin D-deficiency rickets, non-type I, non-type II, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001614-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012424
name: llama syndrome chondrodysplasia, sheep
xref: OMIA:001616-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011335 {source="OMIA:001616", source="https://orcid.org/0000-0002-5002-8648"} ! musculoskeletal system disorder, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001616-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012425
name: congenital merosin-deficient muscular dystrophy, domestic cat
xref: OMIA:001619-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011802 {source="OMIA:001619", source="https://orcid.org/0000-0002-5002-8648"} ! congenital merosin-deficient muscular dystrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001619-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012426
name: muscular dystrophy-dystroglycanopathy (limb-girdle), chicken
xref: OMIA:001621-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1011803 {source="OMIA:001621", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy-dystroglycanopathy (limb-girdle), non-human animal
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001621-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012427
name: muscular dystrophy-dystroglycanopathy (limb-girdle), domestic cat
xref: OMIA:001621-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011803 {source="OMIA:001621", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy-dystroglycanopathy (limb-girdle), non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001621-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012428
name: complement component 4 deficiency, domestic guinea pig
synonym: "C4 deficiency, domestic guinea pig" EXACT [OMIA:001626-10141]
xref: OMIA:001626-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1011730 {source="OMIA:001626", source="https://orcid.org/0000-0002-5002-8648"} ! complement component 4 deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:10141 {source="OMIA:001626-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012429
name: retinal dysplasia and internal hydrocephalus, cattle
xref: OMIA:001663-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011887 {source="OMIA:001663", source="https://orcid.org/0000-0002-5002-8648"} ! retinal dysplasia and internal hydrocephalus, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001663-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012430
name: necrosis of digits, dog
xref: OMIA:001665-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011770 {source="OMIA:001665", source="https://orcid.org/0000-0002-5002-8648"} ! necrosis of digits, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001665-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012431
name: rod dysplasia, dog
xref: OMIA:001670-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011991 {source="OMIA:001670", source="https://orcid.org/0000-0002-5002-8648"} ! rod dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001670-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012432
name: congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dog
xref: OMIA:001683-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011992 {source="OMIA:001683", source="https://orcid.org/0000-0002-5002-8648"} ! congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001683-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012433
name: proportionate dwarfism with inflammatory lesions, cattle
xref: OMIA:001686-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011963 {source="OMIA:001686", source="https://orcid.org/0000-0002-5002-8648"} ! proportionate dwarfism with inflammatory lesions, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001686-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012434
name: congenital hydranencephaly and cerebellar hypoplasia, water buffalo
xref: OMIA:001689-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1011888 {source="OMIA:001689", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hydranencephaly and cerebellar hypoplasia, non-human animal
relationship: in_taxon NCBITaxon:89462 {source="OMIA:001689-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012435
name: congenital hydranencephaly and cerebellar hypoplasia, cattle
xref: OMIA:001689-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011888 {source="OMIA:001689", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hydranencephaly and cerebellar hypoplasia, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001689-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012436
name: lacrimal fistula, cattle
xref: OMIA:001693-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011993 {source="OMIA:001693", source="https://orcid.org/0000-0002-5002-8648"} ! lacrimal fistula, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001693-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012437
name: fluoroquinolone-induced retinal degeneration, domestic cat
xref: OMIA:001707-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011994 {source="OMIA:001707", source="https://orcid.org/0000-0002-5002-8648"} ! fluoroquinolone-induced retinal degeneration, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001707-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012438
name: sebaceous gland dysplasia, domestic cat
xref: OMIA:001710-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011757 {source="OMIA:001710", source="https://orcid.org/0000-0002-5002-8648"} ! sebaceous gland dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001710-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012439
name: ear necrosis syndrome, pig
xref: OMIA:001711-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011709 {source="OMIA:001711", source="https://orcid.org/0000-0002-5002-8648"} ! ear necrosis syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001711-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012440
name: lethal multi-organ developmental dysplasia, cattle
xref: OMIA:001722-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011785 {source="OMIA:001722", source="https://orcid.org/0000-0002-5002-8648"} ! lethal multi-organ developmental dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001722-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012441
name: familial episodic spinocerebellar ataxia, sheep
xref: OMIA:001723-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011889 {source="OMIA:001723", source="https://orcid.org/0000-0002-5002-8648"} ! familial episodic spinocerebellar ataxia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001723-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012442
name: malignant melanoma, dog
xref: OMIA:001724-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011821 {source="OMIA:001724", source="https://orcid.org/0000-0002-5002-8648"} ! malignant melanoma, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001724-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012443
name: malignant melanoma, lion
xref: OMIA:001724-9689 {source="MONDO:equivalentTo"}
is_a: MONDO:1011821 {source="OMIA:001724", source="https://orcid.org/0000-0002-5002-8648"} ! malignant melanoma, non-human animal
relationship: in_taxon NCBITaxon:9689 {source="OMIA:001724-9689", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera leo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012444
name: polled and multisystemic syndrome, cattle
xref: OMIA:001736-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011655 {source="OMIA:001736", source="https://orcid.org/0000-0002-5002-8648"} ! polled and multisystemic syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001736-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012445
name: juvenile idiopathic epilepsy, horse
xref: OMIA:001757-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011637 {source="OMIA:001757", source="https://orcid.org/0000-0002-5002-8648"} ! juvenile idiopathic epilepsy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001757-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012446
name: non-specific digestive disorder, rabbit
xref: OMIA:001768-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011666 {source="OMIA:001768", source="https://orcid.org/0000-0002-5002-8648"} ! non-specific digestive disorder, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001768-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012447
name: gyrate atrophy of choroid and retina, domestic cat
xref: OMIA:001774-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011995 {source="OMIA:001774", source="https://orcid.org/0000-0002-5002-8648"} ! gyrate atrophy of choroid and retina, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001774-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012448
name: mammary tumor, dog
xref: OMIA:001777-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:0025483 {source="OMIA:001777", source="https://orcid.org/0000-0002-5002-8648"} ! mammary neoplasms, animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001777-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012449
name: squamous cell carcinoma of the digit, dog
xref: OMIA:001787-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011822 {source="OMIA:001787", source="https://orcid.org/0000-0002-5002-8648"} ! squamous cell carcinoma of the digit, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001787-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012450
name: leukoencephalomyelopathy, dog
xref: OMIA:001788-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011890 {source="OMIA:001788", source="https://orcid.org/0000-0002-5002-8648"} ! leukoencephalomyelopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001788-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012451
name: intestinal cobalamin (vitamin B12) malabsorption, dog
xref: OMIA:001791-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011719 {source="OMIA:001791", source="https://orcid.org/0000-0002-5002-8648"} ! intestinal cobalamin (vitamin B12) malabsorption, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001791-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012452
name: intestinal cobalamin (vitamin B12) malabsorption, domestic cat
xref: OMIA:001791-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011719 {source="OMIA:001791", source="https://orcid.org/0000-0002-5002-8648"} ! intestinal cobalamin (vitamin B12) malabsorption, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001791-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012453
name: selective ADP deficiency, dog
xref: OMIA:001792-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011703 {source="OMIA:001792", source="https://orcid.org/0000-0002-5002-8648"} ! selective ADP deficiency, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001792-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012454
name: congenital myopathy with fiber-type disproportion, dog
xref: OMIA:001796-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011804 {source="OMIA:001796", source="https://orcid.org/0000-0002-5002-8648"} ! congenital myopathy with fiber-type disproportion, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001796-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012455
name: ocular melanosis, dog
xref: OMIA:001804-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011996 {source="OMIA:001804", source="https://orcid.org/0000-0002-5002-8648"} ! ocular melanosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001804-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012456
name: multiple autoimmune diseases syndrome, dog
xref: OMIA:001808-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011731 {source="OMIA:001808", source="https://orcid.org/0000-0002-5002-8648"} ! multiple autoimmune diseases syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001808-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012457
name: hemangiosarcoma, cockatiel
xref: OMIA:001813-13180 {source="MONDO:equivalentTo"}
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
relationship: in_taxon NCBITaxon:13180 {source="OMIA:001813-13180", source="https://orcid.org/0000-0002-5002-8648"} ! Nymphicus hollandicus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012458
name: hemangiosarcoma, orange-winged Amazon parrot
xref: OMIA:001813-151758 {source="MONDO:equivalentTo"}
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
relationship: in_taxon NCBITaxon:151758 {source="OMIA:001813-151758", source="https://orcid.org/0000-0002-5002-8648"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012459
name: hemangiosarcoma, African hunting dog
xref: OMIA:001813-9622 {source="MONDO:equivalentTo"}
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
relationship: in_taxon NCBITaxon:9622 {source="OMIA:001813-9622", source="https://orcid.org/0000-0002-5002-8648"} ! Lycaon pictus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012460
name: hemangiosarcoma, domestic cat
xref: OMIA:001813-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001813-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012461
name: hemangiosarcoma, horse
xref: OMIA:001813-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001813-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012462
name: hemangiosarcoma, pig
xref: OMIA:001813-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001813-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012463
name: hemangiosarcoma, cattle
xref: OMIA:001813-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001813-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012464
name: hemangiosarcoma, sheep
xref: OMIA:001813-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011823 {source="OMIA:001813", source="https://orcid.org/0000-0002-5002-8648"} ! hemangiosarcoma, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001813-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012465
name: idiopathic congenital chondrodystrophy, cattle
xref: OMIA:001814-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011964 {source="OMIA:001814", source="https://orcid.org/0000-0002-5002-8648"} ! idiopathic congenital chondrodystrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001814-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012466
name: perinatal weak calf syndrome, cattle
xref: OMIA:001817-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011786 {source="OMIA:001817", source="https://orcid.org/0000-0002-5002-8648"} ! perinatal weak calf syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001817-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012467
name: postpartum dysgalactia syndrome, pig
xref: OMIA:001822-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011680 {source="OMIA:001822", source="https://orcid.org/0000-0002-5002-8648"} ! postpartum dysgalactia syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001822-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012468
name: pentalogy of Fallot, Amur tiger
xref: OMIA:001857-74533 {source="MONDO:equivalentTo"}
is_a: MONDO:1011650 {source="OMIA:001857", source="https://orcid.org/0000-0002-5002-8648"} ! pentalogy of Fallot, non-human animal
relationship: in_taxon NCBITaxon:74533 {source="OMIA:001857-74533", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera tigris altaica
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012469
name: pentalogy of Fallot, dog
xref: OMIA:001857-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011650 {source="OMIA:001857", source="https://orcid.org/0000-0002-5002-8648"} ! pentalogy of Fallot, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001857-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012470
name: pentalogy of Fallot, horse
xref: OMIA:001857-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011650 {source="OMIA:001857", source="https://orcid.org/0000-0002-5002-8648"} ! pentalogy of Fallot, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001857-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012471
name: pentalogy of Fallot, sheep
xref: OMIA:001857-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011650 {source="OMIA:001857", source="https://orcid.org/0000-0002-5002-8648"} ! pentalogy of Fallot, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001857-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012472
name: horn cancer, zebu cattle
xref: OMIA:001859-9915 {source="MONDO:equivalentTo"}
is_a: MONDO:1011824 {source="OMIA:001859", source="https://orcid.org/0000-0002-5002-8648"} ! horn cancer, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9915 {source="OMIA:001859-9915", source="https://orcid.org/0000-0002-5002-8648"} ! Bos indicus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012473
name: medial coronoid disease, dog
xref: OMIA:001863-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011771 {source="OMIA:001863", source="https://orcid.org/0000-0002-5002-8648"} ! medial coronoid disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001863-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012474
name: retinal degeneration, Smoky Joe, chicken
def: "Retinal degeneration that occurs in the Smoky Joe breed of chicken." [OMIA:001869-9031]
xref: OMIA:001869-9031 {source="MONDO:equivalentTo"}
is_a: MONDO:1010326 {source="OMIA:001869", source="https://orcid.org/0000-0002-5002-8648"} ! retinal degeneration, non-human animal
relationship: in_taxon NCBITaxon:9031 {source="OMIA:001869-9031", source="https://orcid.org/0000-0002-5002-8648"} ! Gallus gallus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012475
name: recurrent uveitis, horse
xref: OMIA:001872-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011997 {source="OMIA:001872", source="https://orcid.org/0000-0002-5002-8648"} ! recurrent uveitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001872-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012476
name: attention deficit hyperactivity disorder, dog
xref: OMIA:001882-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011638 {source="OMIA:001882", source="https://orcid.org/0000-0002-5002-8648"} ! attention deficit hyperactivity disorder, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001882-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012477
name: disproportionate short-limbed chondrodysplasia, dog
xref: OMIA:001886-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011965 {source="OMIA:001886", source="https://orcid.org/0000-0002-5002-8648"} ! disproportionate short-limbed chondrodysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001886-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012478
name: upper airway syndrome, dog
xref: OMIA:001893-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011931 {source="OMIA:001893", source="https://orcid.org/0000-0002-5002-8648"} ! upper airway syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001893-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012479
name: cervical vertebral compressive myelopathy, dog
xref: OMIA:001894-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011891 {source="OMIA:001894", source="https://orcid.org/0000-0002-5002-8648"} ! cervical vertebral compressive myelopathy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001894-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012480
name: cervical vertebral compressive myelopathy, mountain zebra
xref: OMIA:001894-9791 {source="MONDO:equivalentTo"}
is_a: MONDO:1011891 {source="OMIA:001894", source="https://orcid.org/0000-0002-5002-8648"} ! cervical vertebral compressive myelopathy, non-human animal
relationship: in_taxon NCBITaxon:9791 {source="OMIA:001894-9791", source="https://orcid.org/0000-0002-5002-8648"} ! Equus zebra
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012481
name: cervical vertebral compressive myelopathy, horse
xref: OMIA:001894-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011891 {source="OMIA:001894", source="https://orcid.org/0000-0002-5002-8648"} ! cervical vertebral compressive myelopathy, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001894-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012482
name: cervical vertebral compressive myelopathy, sheep
xref: OMIA:001894-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011891 {source="OMIA:001894", source="https://orcid.org/0000-0002-5002-8648"} ! cervical vertebral compressive myelopathy, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001894-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012483
name: exercise-induced pulmonary hemorrhage, horse
xref: OMIA:001896-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011704 {source="OMIA:001896", source="https://orcid.org/0000-0002-5002-8648"} ! exercise-induced pulmonary hemorrhage, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001896-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012484
name: hoof wall separation syndrome, horse
xref: OMIA:001897-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011772 {source="OMIA:001897", source="https://orcid.org/0000-0002-5002-8648"} ! hoof wall separation syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001897-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012485
name: skeletal dysplasia with craniofacial deformity and disproportionate dwarfism, sheep
xref: OMIA:001903-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011966 {source="OMIA:001903", source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia with craniofacial deformity and disproportionate dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:001903-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012486
name: spinal intradural arachnoid cyst, dog
xref: OMIA:001923-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011892 {source="OMIA:001923", source="https://orcid.org/0000-0002-5002-8648"} ! spinal intradural arachnoid cyst, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001923-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012487
name: zinc deficiency-like syndrome, cattle
xref: OMIA:001935-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011758 {source="OMIA:001935", source="https://orcid.org/0000-0002-5002-8648"} ! zinc deficiency-like syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001935-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012488
name: ACTH-independent adrenal Cushing syndrome, dog
xref: OMIA:001937-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011681 {source="OMIA:001937", source="https://orcid.org/0000-0002-5002-8648"} ! ACTH-independent adrenal Cushing syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001937-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012489
name: hypotrichosis with short life expectancy, domestic cat
xref: OMIA:001949-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011759 {source="OMIA:001949", source="https://orcid.org/0000-0002-5002-8648"} ! hypotrichosis with short life expectancy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:001949-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012490
name: vertebral and spinal dysplasia, cattle
xref: OMIA:001951-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011967 {source="OMIA:001951", source="https://orcid.org/0000-0002-5002-8648"} ! vertebral and spinal dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001951-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012491
name: lethal arthrogryposis syndrome, cattle
xref: OMIA:001953-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011968 {source="OMIA:001953", source="https://orcid.org/0000-0002-5002-8648"} ! lethal arthrogryposis syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:001953-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012492
name: neurodegenerative vacuolar storage disease, dog
xref: OMIA:001954-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011893 {source="OMIA:001954", source="https://orcid.org/0000-0002-5002-8648"} ! neurodegenerative vacuolar storage disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001954-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012493
name: combined deficiency of factors VIII, IX, and X, horse
xref: OMIA:001983-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011705 {source="OMIA:001983", source="https://orcid.org/0000-0002-5002-8648"} ! combined deficiency of factors VIII, IX, and X, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:001983-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012494
name: autosomal T cell-negative, B cell-negative, NK cell-positive severe combined immunodeficiency disease with sensitivity to ionizing radiation, pig
xref: OMIA:001986-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011732 {source="OMIA:001986", source="https://orcid.org/0000-0002-5002-8648"} ! autosomal T cell-negative, B cell-negative, NK cell-positive severe combined immunodeficiency disease with sensitivity to ionizing radiation, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:001986-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012495
name: symmetrical onychomadesis, dog
xref: OMIA:001989-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011760 {source="OMIA:001989", source="https://orcid.org/0000-0002-5002-8648"} ! symmetrical onychomadesis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:001989-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012496
name: Dahlem dwarfism, rabbit
xref: OMIA:001998-9986 {source="MONDO:equivalentTo"}
is_a: MONDO:1011969 {source="OMIA:001998", source="https://orcid.org/0000-0002-5002-8648"} ! Dahlem dwarfism, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9986 {source="OMIA:001998-9986", source="https://orcid.org/0000-0002-5002-8648"} ! Oryctolagus cuniculus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012497
name: Lundehund syndrome, dog
xref: OMIA:002031-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011667 {source="OMIA:002031", source="https://orcid.org/0000-0002-5002-8648"} ! Lundehund syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002031-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012498
name: primary open angle glaucoma, dog
xref: OMIA:002046-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011998 {source="OMIA:002046", source="https://orcid.org/0000-0002-5002-8648"} ! primary open angle glaucoma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002046-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012499
name: subclinical hypocalcemia, cattle
xref: OMIA:002048-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011720 {source="OMIA:002048", source="https://orcid.org/0000-0002-5002-8648"} ! subclinical hypocalcemia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002048-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012500
name: subclinical hypomagnesemia, cattle
xref: OMIA:002050-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011721 {source="OMIA:002050", source="https://orcid.org/0000-0002-5002-8648"} ! subclinical hypomagnesemia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002050-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012501
name: hydrallantois, water buffalo
xref: OMIA:002053-89462 {source="MONDO:equivalentTo"}
is_a: MONDO:1011672 {source="OMIA:002053", source="https://orcid.org/0000-0002-5002-8648"} ! hydrallantois, non-human animal
relationship: in_taxon NCBITaxon:89462 {source="OMIA:002053-89462", source="https://orcid.org/0000-0002-5002-8648"} ! Bubalus bubalis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012502
name: hydrallantois, horse
xref: OMIA:002053-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011672 {source="OMIA:002053", source="https://orcid.org/0000-0002-5002-8648"} ! hydrallantois, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002053-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012503
name: hydrallantois, cattle
xref: OMIA:002053-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011672 {source="OMIA:002053", source="https://orcid.org/0000-0002-5002-8648"} ! hydrallantois, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002053-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012504
name: hydrallantois, goat
xref: OMIA:002053-9925 {source="MONDO:equivalentTo"}
is_a: MONDO:1011672 {source="OMIA:002053", source="https://orcid.org/0000-0002-5002-8648"} ! hydrallantois, non-human animal
relationship: in_taxon NCBITaxon:9925 {source="OMIA:002053-9925", source="https://orcid.org/0000-0002-5002-8648"} ! Capra hircus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012505
name: hydrallantois, sheep
xref: OMIA:002053-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011672 {source="OMIA:002053", source="https://orcid.org/0000-0002-5002-8648"} ! hydrallantois, non-human animal
relationship: in_taxon NCBITaxon:9940 {source="OMIA:002053-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012506
name: degenerative encephalopathy, dog
xref: OMIA:002055-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011894 {source="OMIA:002055", source="https://orcid.org/0000-0002-5002-8648"} ! degenerative encephalopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002055-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012507
name: Guillain-Barr-like polyradiculoneuropathy, dog
xref: OMIA:002062-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011895 {source="OMIA:002062", source="https://orcid.org/0000-0002-5002-8648"} ! Guillain-Barr-like polyradiculoneuropathy, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002062-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012508
name: Guillain-Barr-like polyradiculoneuropathy, domestic cat
xref: OMIA:002062-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011895 {source="OMIA:002062", source="https://orcid.org/0000-0002-5002-8648"} ! Guillain-Barr-like polyradiculoneuropathy, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002062-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012509
name: degenerative suspensory ligament desmitis, horse
xref: OMIA:002086-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011773 {source="OMIA:002086", source="https://orcid.org/0000-0002-5002-8648"} ! degenerative suspensory ligament desmitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002086-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012510
name: facial dysplasia syndrome, cattle
xref: OMIA:002090-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011656 {source="OMIA:002090", source="https://orcid.org/0000-0002-5002-8648"} ! facial dysplasia syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002090-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012511
name: generalized myoclonic epilepsy with photosensitivity, dog
xref: OMIA:002095-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011639 {source="OMIA:002095", source="https://orcid.org/0000-0002-5002-8648"} ! generalized myoclonic epilepsy with photosensitivity, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002095-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012512
name: naked foal syndrome, horse
xref: OMIA:002096-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011761 {source="OMIA:002096", source="https://orcid.org/0000-0002-5002-8648"} ! naked foal syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002096-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012513
name: verrucous epidermal keratinocytic nevi, dog
xref: OMIA:002117-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011762 {source="OMIA:002117", source="https://orcid.org/0000-0002-5002-8648"} ! verrucous epidermal keratinocytic nevi, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002117-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012514
name: verrucous epidermal keratinocytic nevi, domestic cat
xref: OMIA:002117-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011762 {source="OMIA:002117", source="https://orcid.org/0000-0002-5002-8648"} ! verrucous epidermal keratinocytic nevi, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002117-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012515
name: pectinate ligament dysplasia, dog
xref: OMIA:002118-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011999 {source="OMIA:002118", source="https://orcid.org/0000-0002-5002-8648"} ! pectinate ligament dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002118-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012516
name: goldenhar syndrome, domestic cat
xref: OMIA:002136-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011657 {source="OMIA:002136", source="https://orcid.org/0000-0002-5002-8648"} ! goldenhar syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002136-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012517
name: exercise induced metabolic myopathy, dog
xref: OMIA:002140-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011805 {source="OMIA:002140", source="https://orcid.org/0000-0002-5002-8648"} ! exercise induced metabolic myopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002140-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012518
name: immune-mediated myositis, horse
xref: OMIA:002141-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011806 {source="OMIA:002141", source="https://orcid.org/0000-0002-5002-8648"} ! immune-mediated myositis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002141-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012519
name: lethal acrodermatitis, dog
xref: OMIA:002146-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011763 {source="OMIA:002146", source="https://orcid.org/0000-0002-5002-8648"} ! lethal acrodermatitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002146-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012520
name: bilateral deafness and vestibular dysfunction, dog
xref: OMIA:002148-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011710 {source="OMIA:002148", source="https://orcid.org/0000-0002-5002-8648"} ! bilateral deafness and vestibular dysfunction, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002148-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012521
name: bilateral deafness and vestibular dysfunction, pig
xref: OMIA:002148-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011710 {source="OMIA:002148", source="https://orcid.org/0000-0002-5002-8648"} ! bilateral deafness and vestibular dysfunction, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002148-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012522
name: turning calves syndrome, cattle
synonym: "syndrome des veaux tourneurs" EXACT [OMIA:002150-9913]
xref: OMIA:002150-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011336 {source="OMIA:002150", source="https://orcid.org/0000-0002-5002-8648"} ! nervous system disorder, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002150-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012523
name: sudden acquired retinal degeneration syndrome, dog
xref: OMIA:002169-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1012000 {source="OMIA:002169", source="https://orcid.org/0000-0002-5002-8648"} ! sudden acquired retinal degeneration syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002169-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012524
name: diffuse cystic renal dysplasia and hepatic fibrosis, dog
xref: OMIA:002173-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011915 {source="OMIA:002173", source="https://orcid.org/0000-0002-5002-8648"} ! diffuse cystic renal dysplasia and hepatic fibrosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002173-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012525
name: Meckel-like hepatorenal fibrocystic dysplasia syndrome, sheep
xref: OMIA:002176-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011916 {source="OMIA:002176", source="https://orcid.org/0000-0002-5002-8648"} ! Meckel-like hepatorenal fibrocystic dysplasia syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:002176-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012526
name: bilateral corneal stromal loss, horse
xref: OMIA:002187-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1012001 {source="OMIA:002187", source="https://orcid.org/0000-0002-5002-8648"} ! bilateral corneal stromal loss, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002187-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012527
name: ichthyosis fetalis, sheep
xref: OMIA:002193-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011764 {source="OMIA:002193", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis fetalis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:002193-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012528
name: unilateral deafness and vestibular dysfunction, dog
xref: OMIA:002196-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011711 {source="OMIA:002196", source="https://orcid.org/0000-0002-5002-8648"} ! unilateral deafness and vestibular dysfunction, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002196-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012529
name: recurrent inflammatory pulmonary disease, dog
xref: OMIA:002205-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011932 {source="OMIA:002205", source="https://orcid.org/0000-0002-5002-8648"} ! recurrent inflammatory pulmonary disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002205-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012530
name: cavitating leukodystrophy, dog
xref: OMIA:002214-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011897 {source="OMIA:002214", source="https://orcid.org/0000-0002-5002-8648"} ! cavitating leukodystrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002214-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012531
name: digital dermatitis, cattle
xref: OMIA:002224-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011774 {source="OMIA:002224", source="https://orcid.org/0000-0002-5002-8648"} ! digital dermatitis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002224-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012532
name: calvarial hyperostotic syndrome, dog
xref: OMIA:002245-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011658 {source="OMIA:002245", source="https://orcid.org/0000-0002-5002-8648"} ! calvarial hyperostotic syndrome, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002245-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012533
name: calvarial hyperostotic syndrome, lion
xref: OMIA:002245-9689 {source="MONDO:equivalentTo"}
is_a: MONDO:1011658 {source="OMIA:002245", source="https://orcid.org/0000-0002-5002-8648"} ! calvarial hyperostotic syndrome, non-human animal
relationship: in_taxon NCBITaxon:9689 {source="OMIA:002245-9689", source="https://orcid.org/0000-0002-5002-8648"} ! Panthera leo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012534
name: pulmonary surfactant metabolism dysfunction, dog
xref: OMIA:002251-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011933 {source="OMIA:002251", source="https://orcid.org/0000-0002-5002-8648"} ! pulmonary surfactant metabolism dysfunction, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002251-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012535
name: cardiomyopathy and juvenile mortality, dog
xref: OMIA:002256-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011651 {source="OMIA:002256", source="https://orcid.org/0000-0002-5002-8648"} ! cardiomyopathy and juvenile mortality, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002256-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012536
name: atypical thrombasthenia, horse
xref: OMIA:002272-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011706 {source="OMIA:002272", source="https://orcid.org/0000-0002-5002-8648"} ! atypical thrombasthenia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002272-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012537
name: hypopigmentation and deafness, pig
xref: OMIA:002287-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011900 {source="OMIA:002287", source="https://orcid.org/0000-0002-5002-8648"} ! hypopigmentation and deafness, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002287-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012538
name: congenital dyserythropoietic anemia, cattle
xref: OMIA:002300-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011707 {source="OMIA:002300", source="https://orcid.org/0000-0002-5002-8648"} ! congenital dyserythropoietic anemia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002300-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012539
name: hypomyelinating leukodystrophy, dog
xref: OMIA:002321-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011898 {source="OMIA:002321", source="https://orcid.org/0000-0002-5002-8648"} ! hypomyelinating leukodystrophy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002321-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012540
name: white skin color and iridophoroma, leopard gecko
xref: OMIA:002363-481883 {source="MONDO:equivalentTo"}
is_a: MONDO:1011901 {source="OMIA:002363", source="https://orcid.org/0000-0002-5002-8648"} ! white skin color and iridophoroma, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:481883 {source="OMIA:002363-481883", source="https://orcid.org/0000-0002-5002-8648"} ! Eublepharis macularius
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012541
name: idiopathic hypercalciuria, dog
xref: OMIA:002384-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011917 {source="OMIA:002384", source="https://orcid.org/0000-0002-5002-8648"} ! idiopathic hypercalciuria, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002384-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012542
name: pyometra, dog
xref: OMIA:002391-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011921 {source="OMIA:002391", source="https://orcid.org/0000-0002-5002-8648"} ! pyometra, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002391-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012543
name: congential hepatic fibrosis, dog
xref: OMIA:002392-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011781 {source="OMIA:002392", source="https://orcid.org/0000-0002-5002-8648"} ! congential hepatic fibrosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002392-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012544
name: neuropathy and feather color dilution, Northern goshawk
xref: OMIA:002398-8957 {source="MONDO:equivalentTo"}
is_a: MONDO:1011902 {source="OMIA:002398", source="https://orcid.org/0000-0002-5002-8648"} ! neuropathy and feather color dilution, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:8957 {source="OMIA:002398-8957", source="https://orcid.org/0000-0002-5002-8648"} ! Accipiter gentilis
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012545
name: choroid plexus tumour, dog
xref: OMIA:002403-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011825 {source="OMIA:002403", source="https://orcid.org/0000-0002-5002-8648"} ! choroid plexus tumour, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002403-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012546
name: cytochrome B-related exercise intolerance, sheep
xref: OMIA:002407-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011722 {source="OMIA:002407", source="https://orcid.org/0000-0002-5002-8648"} ! cytochrome B-related exercise intolerance, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:002407-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012547
name: vitreous degeneration, dog
xref: OMIA:002409-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1012002 {source="OMIA:002409", source="https://orcid.org/0000-0002-5002-8648"} ! vitreous degeneration, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002409-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012548
name: dynamic laryngeal collapse, horse
xref: OMIA:002417-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011934 {source="OMIA:002417", source="https://orcid.org/0000-0002-5002-8648"} ! dynamic laryngeal collapse, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002417-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012549
name: asymmetrical occipital condylar dysplasia, sheep
xref: OMIA:002422-9940 {source="MONDO:equivalentTo"}
is_a: MONDO:1011970 {source="OMIA:002422", source="https://orcid.org/0000-0002-5002-8648"} ! asymmetrical occipital condylar dysplasia, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9940 {source="OMIA:002422-9940", source="https://orcid.org/0000-0002-5002-8648"} ! Ovis aries
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012550
name: olivopontocerebellar degeneration, domestic cat
xref: OMIA:002454-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011899 {source="OMIA:002454", source="https://orcid.org/0000-0002-5002-8648"} ! olivopontocerebellar degeneration, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002454-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012551
name: caudal cruciate ligament disease, dog
xref: OMIA:002463-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011971 {source="OMIA:002463", source="https://orcid.org/0000-0002-5002-8648"} ! caudal cruciate ligament disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002463-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012552
name: retained placenta, horse
xref: OMIA:002475-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011922 {source="OMIA:002475", source="https://orcid.org/0000-0002-5002-8648"} ! retained placenta, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002475-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012553
name: retained placenta, cattle
xref: OMIA:002475-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011922 {source="OMIA:002475", source="https://orcid.org/0000-0002-5002-8648"} ! retained placenta, non-human animal
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002475-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012554
name: atypical myopathy, horse
xref: OMIA:002480-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011807 {source="OMIA:002480", source="https://orcid.org/0000-0002-5002-8648"} ! atypical myopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002480-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012555
name: mitral valve dysplasia, domestic cat
xref: OMIA:002521-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011652 {source="OMIA:002521", source="https://orcid.org/0000-0002-5002-8648"} ! mitral valve dysplasia, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002521-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012556
name: mitral valve dysplasia, ass
xref: OMIA:002521-9793 {source="MONDO:equivalentTo"}
is_a: MONDO:1011652 {source="OMIA:002521", source="https://orcid.org/0000-0002-5002-8648"} ! mitral valve dysplasia, non-human animal
relationship: in_taxon NCBITaxon:9793 {source="OMIA:002521-9793", source="https://orcid.org/0000-0002-5002-8648"} ! Equus asinus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012557
name: mitral valve dysplasia, horse
xref: OMIA:002521-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011652 {source="OMIA:002521", source="https://orcid.org/0000-0002-5002-8648"} ! mitral valve dysplasia, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002521-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012558
name: anal gland disease, dog
xref: OMIA:002523-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011682 {source="OMIA:002523", source="https://orcid.org/0000-0002-5002-8648"} ! anal gland disease, non-human animal
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002523-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012559
name: anal gland disease, domestic cat
xref: OMIA:002523-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011682 {source="OMIA:002523", source="https://orcid.org/0000-0002-5002-8648"} ! anal gland disease, non-human animal
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002523-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012560
name: dysplastic gangliocytoma of the cerebellum, domestic cat
xref: OMIA:002529-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011826 {source="OMIA:002529", source="https://orcid.org/0000-0002-5002-8648"} ! dysplastic gangliocytoma of the cerebellum, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002529-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012561
name: mitochondrial fission encephalopathy, dog
xref: OMIA:002551-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011723 {source="OMIA:002551", source="https://orcid.org/0000-0002-5002-8648"} ! mitochondrial fission encephalopathy, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002551-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012562
name: osteochondromatosis, horse
xref: OMIA:002555-9796 {source="MONDO:equivalentTo"}
is_a: MONDO:1011972 {source="OMIA:002555", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondromatosis, non-human animal
relationship: in_taxon NCBITaxon:9796 {source="OMIA:002555-9796", source="https://orcid.org/0000-0002-5002-8648"} ! Equus caballus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012563
name: osteochondromatosis, pig
xref: OMIA:002555-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011972 {source="OMIA:002555", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondromatosis, non-human animal
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002555-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012564
name: growth and respiratory lethal syndrome, cattle
xref: OMIA:002560-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011935 {source="OMIA:002560", source="https://orcid.org/0000-0002-5002-8648"} ! growth and respiratory lethal syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002560-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012565
name: dyserythropoietic anemia and myopathy syndrome, dog
xref: OMIA:002564-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011708 {source="OMIA:002564", source="https://orcid.org/0000-0002-5002-8648"} ! dyserythropoietic anemia and myopathy syndrome, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002564-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012566
name: corneal sequestra, domestic cat
xref: OMIA:002574-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1012003 {source="OMIA:002574", source="https://orcid.org/0000-0002-5002-8648"} ! corneal sequestra, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002574-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012567
name: osseous choristoma of the ciliary body, domestic guinea pig
xref: OMIA:002576-10141 {source="MONDO:equivalentTo"}
is_a: MONDO:1012004 {source="OMIA:002576", source="https://orcid.org/0000-0002-5002-8648"} ! osseous choristoma of the ciliary body, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:10141 {source="OMIA:002576-10141", source="https://orcid.org/0000-0002-5002-8648"} ! Cavia porcellus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012568
name: congenital mast cell tumor, cattle
xref: OMIA:002578-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011827 {source="OMIA:002578", source="https://orcid.org/0000-0002-5002-8648"} ! congenital mast cell tumor, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002578-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012569
name: hepatocellular fibrinogen storage disease, cattle
xref: OMIA:002582-9913 {source="MONDO:equivalentTo"}
is_a: MONDO:1011782 {source="OMIA:002582", source="https://orcid.org/0000-0002-5002-8648"} ! hepatocellular fibrinogen storage disease, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9913 {source="OMIA:002582-9913", source="https://orcid.org/0000-0002-5002-8648"} ! Bos taurus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012570
name: cancer, dog
def: "Cancer that occurs in dogs." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002587-9615 {source="MONDO:equivalentTo"}
is_a: MONDO:1011828 {source="OMIA:002587", source="https://orcid.org/0000-0002-5002-8648"} ! cancer, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris
intersection_of: MONDO:0700097 MONDO:0004992 ! cross-species analog cancer
relationship: in_taxon NCBITaxon:9615 {source="OMIA:002587-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012571
name: cancer, domestic cat
def: "Cancer that occurs in domestic cats." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002587-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011828 {source="OMIA:002587", source="https://orcid.org/0000-0002-5002-8648"} ! cancer, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9685 ! Felis catus
intersection_of: MONDO:0700097 MONDO:0004992 ! cross-species analog cancer
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002587-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012572
name: cancer, pig
def: "Cancer that occurs in pigs." [MONDO:patterns/nonhuman_disease]
xref: OMIA:002587-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011828 {source="OMIA:002587", source="https://orcid.org/0000-0002-5002-8648"} ! cancer, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9823 ! Sus scrofa
intersection_of: MONDO:0700097 MONDO:0004992 ! cross-species analog cancer
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002587-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1012573
name: pyknodysostosis, domestic cat
xref: OMIA:002607-9685 {source="MONDO:equivalentTo"}
is_a: MONDO:1011973 {source="OMIA:002607", source="https://orcid.org/0000-0002-5002-8648"} ! pyknodysostosis, non-human animal
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9685 {source="OMIA:002607-9685", source="https://orcid.org/0000-0002-5002-8648"} ! Felis catus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
id: MONDO:1030000
name: hyperinsulinemic hypoglycemia with polycystic kidney disease
def: "Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter." [https://clinicalgenome.org/affiliation/40066/, PMID:28373276, PMID:36412659]
subset: inferred_rare
subset: rare
synonym: "HIPKD" EXACT [PMID:28373276]
is_a: MONDO:0005803 {source="https://clinicalgenome.org/affiliation/40066/"} ! hyperinsulinemic hypoglycemia
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7457" xsd:anyURI

[Term]
id: MONDO:1030001
name: epilepsy, juvenile absence, susceptibility to
xref: OMIMPS:607631 {source="MONDO:equivalentTo"}
is_a: MONDO:0020573 ! inherited disease susceptibility
intersection_of: MONDO:0020573 ! inherited disease susceptibility
intersection_of: predisposes_towards MONDO:0800453 ! juvenile absence epilepsy
relationship: has_characteristic MONDO:0021152 ! inherited
property_value: http://purl.org/dc/terms/creator "https://orcid.org/0000-0002-3458-4839" xsd:string
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6897" xsd:anyURI

[Term]
id: MONDO:1030002
name: dysplasia of the proximal femoral epiphyses
def: "A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1." [https://clinicalgenome.org/affiliation/40065/, https://orcid.org/0009-0003-2127-3550]
subset: inferred_rare
subset: rare
is_a: MONDO:0022800 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! type 2 collagenopathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7379" xsd:anyURI

[Term]
id: MONDO:1040002
name: PIK3CA-related overgrowth spectrum
def: "Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic" [https://clinicalgenome.org/affiliation/50020/, https://orcid.org/0000-0002-0587-4693, PMID:23592320, PMID:23946963, PMID:25557259]
subset: inferred_rare
subset: rare
synonym: "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" BROAD [https://clinicalgenome.org/affiliation/50020/, PMID:23592320, PMID:25557259]
is_a: MONDO:0019716 {source="PMID:23592320", source="PMID:23946963", source="PMID:25557259", source="https://clinicalgenome.org/affiliation/50020/"} ! overgrowth syndrome
property_value: http://purl.org/dc/elements/1.1/date "2024-07-03T13:33:20Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7718" xsd:anyURI

[Term]
id: MONDO:1040004
name: PIK3R2-related overgrowth spectrum
def: "Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3R2 gene. The variants can be germline or somatic" [https://clinicalgenome.org/affiliation/50020/, https://orcid.org/0000-0002-0587-4693, PMID:22729224, PMID:26860062, PMID:27854409, PMID:32856318]
subset: inferred_rare
subset: rare
synonym: "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" RELATED [https://clinicalgenome.org/affiliation/50020/, PMID:22729224, PMID:26860062, PMID:27854409]
is_a: MONDO:0019716 {source="PMID:22729224", source="PMID:26860062", source="PMID:27854409", source="PMID:32856318", source="https://clinicalgenome.org/affiliation/50020/"} ! overgrowth syndrome
property_value: http://purl.org/dc/elements/1.1/date "2024-07-03T14:16:10Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7719" xsd:anyURI

[Term]
id: MONDO:1040009
name: TRIP11-related skeletal dysplasia
def: "Any skeletal dysplasia in which the cause of the disease is a variation in the TRIP11 gene. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1A, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes." [PMID:20089971, PMID:30728324, PMID:31903676]
is_a: MONDO:0018230 {source="PMID:20089971", source="PMID:30728324", source="PMID:31903676"} ! skeletal dysplasia
property_value: http://purl.org/dc/elements/1.1/date "2024-07-11T09:51:52Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7782" xsd:anyURI

[Term]
id: MONDO:1040010
name: IRF6-related condition
def: "Van der Woude syndrome, popliteal pterygium syndrome, cleft lip with or without palate, or a spectrum of one or two of those conditions in which the cause of the disease is a mutation in the IRF6 gene." [https://clinicalgenome.org/affiliation/40059/, PMID:12219090, PMID:20301581]
is_a: MONDO:0002254 {source="PMID:12219090", source="PMID:20301581"} ! syndromic disease
property_value: http://purl.org/dc/elements/1.1/date "2024-07-12T13:35:21Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7493" xsd:anyURI

[Term]
id: MONDO:1040011
name: vertebral artery dissection
def: "A human disorder which results from a tear in one of the major cervicocerebral arteries, allowing blood to enter the wall of the artery and split its layers. Pathogenesis typically leads to either stenosis or aneurysmal dilatation of the vessel." [PMID:19096659, PMID:28722857]
synonym: "VAD" EXACT ABBREVIATION [PMID:19096659, PMID:28722857]
is_a: MONDO:0006061 {source="PMID:19096659", source="PMID:28722857"} ! cervical artery dissection
property_value: http://purl.org/dc/elements/1.1/date "2024-07-18T17:01:20Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7593" xsd:anyURI

[Term]
id: MONDO:1040012
name: PI4KA-related disorder
def: "Any human disease in which the cause of the disease is a variation in the PI4KA gene. This disease is characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria." [https://www.clinicalgenome.org/affiliation/40020/, PMID:35951779]
is_a: MONDO:0015150 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! complex hereditary spastic paraplegia
is_a: MONDO:0020340 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! bilateral perisylvian polymicrogyria
is_a: MONDO:0030831 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! gastrointestinal defect and immunodeficiency syndrome
intersection_of: MONDO:0700096 ! human disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8983 ! PI4KA
property_value: http://purl.org/dc/elements/1.1/date "2024-07-18T18:06:40Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7858" xsd:anyURI

[Term]
id: MONDO:1040015
name: infectious disease with sepsis
def: "An infectious disease characterized by life-threatening organ dysfunction due to a dysreguated host response." [https://orcid.org/0000-0002-0587-4693, PMID:26903338]
is_a: MONDO:0005550 {source="PMID:26903338"} ! infectious disease
property_value: http://purl.org/dc/elements/1.1/date "2024-07-22T20:40:42Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7843" xsd:string

[Term]
id: MONDO:1040016
name: cerebral artery stenosis
def: "A cerebrovascular disorder characterized by an abnormal narrowing of a cerebral artery." [https://orcid.org/0000-0002-0587-4693]
is_a: MONDO:0011057 {source="https://orcid.org/0000-0002-0587-4693"} ! cerebrovascular disorder
property_value: http://purl.org/dc/elements/1.1/date "2024-07-22T21:12:58Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7840" xsd:anyURI

[Term]
id: MONDO:1040017
name: intestinal fistula
def: "An intestinal disorder characterized by an opening in the intestine to some epithelial surface." [https://orcid.org/0000-0002-0587-4693, PMID:30480947]
is_a: MONDO:0005020 {source="PMID:30480947"} ! intestinal disorder
property_value: http://purl.org/dc/elements/1.1/date "2024-07-23T13:27:04Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7837" xsd:anyURI

[Term]
id: MONDO:1040019
name: Enterococcus infectious disease
def: "A bacterial disease caused by infection with Enterococcus." [https://orcid.org/0000-0002-0587-4693, MONDO:patterns/infectious_disease_by_agent, PMID:33620836]
synonym: "Enterococcus caused disease or disorder" EXACT [MONDO:patterns/infectious_disease_by_agent]
is_a: MONDO:0005113 {source="PMID:33620836"} ! bacterial infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_infectious_agent NCBITaxon:1350 ! Enterococcus
property_value: http://purl.org/dc/elements/1.1/date "2024-07-23T14:08:43Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7836" xsd:anyURI

[Term]
id: MONDO:1040029
name: Sharpin-related autoinflammatory syndrome
def: "An autoinflammatory disease in which the cause of the disease is a variation in the Sharpin gene." [https://orcid.org/0000-0002-0146-1162, MONDO:patterns/disease_series_by_gene, PMID:38609546]
synonym: "sharpenia" EXACT [https://orcid.org/0000-0002-0146-1162, PMID:38609546]
is_a: MONDO:0019751 {source="PMID:38609546", source="https://orcid.org/0000-0002-0146-1162"} ! autoinflammatory syndrome
intersection_of: MONDO:0019751 ! autoinflammatory syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25321 ! SHARPIN
property_value: http://purl.org/dc/elements/1.1/date "2024-07-02T15:47:35Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7706" xsd:anyURI
>>>>>>> master

[Term]
id: MONDO:1040030
name: GBA1-related Parkinson disease, susceptibility
def: "A susceptibility or predisposition to Parkinsons disease in which the cause of the disease is the presence of a monoallelic pathogenic variant or risk allele in the GBA1 gene." [https://orcid.org/0000-0003-3254-7564, https://search.clinicalgenome.org/CCID\:004931, PMID:19433656, PMID:19846850, PMID:19858467]
is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-0587-4693"} ! inherited disease susceptibility
intersection_of: MONDO:0020573 {source="https://orcid.org/0000-0002-0587-4693"} ! inherited disease susceptibility
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4177 {source="https://orcid.org/0000-0002-0587-4693"} ! GBA1
intersection_of: predisposes_towards MONDO:0005180 {source="https://orcid.org/0000-0002-0587-4693"} ! Parkinson disease
relationship: has_characteristic MONDO:0021152 {source="https://orcid.org/0000-0002-0587-4693"} ! inherited
property_value: http://purl.org/dc/elements/1.1/date "2024-07-02T11:34:09Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7859" xsd:anyURI

[Term]
id: MONDO:1040031
name: dyneinopathy
def: "A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes." [https://clinicalgenome.org/affiliation/40006/, PMID:32656949, PMID:32788638, PMID:33991169, PMID:38513047]
subset: inferred_rare
subset: rare
is_a: MONDO:0000508 {source="PMID:32656949", source="PMID:32788638", source="PMID:33991169", source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! syndromic intellectual disability
is_a: MONDO:0019516 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! exudative vitreoretinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="PMID:32656949", source="PMID:32788638", source="PMID:33991169", source="https://orcid.org/0000-0002-0587-4693"} ! DYNC1H1
property_value: http://purl.org/dc/elements/1.1/date "2024-07-01T21:00:19Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7652" xsd:anyURI

[Term]
id: MONDO:8000000
name: infectious discitis
def: "An infection of the intervertebral disk space." [PMID:27070599]
subset: otar {source="MONDO:OTAR"}
xref: EFO:1000900 {source="MONDO:equivalentTo", source="MONDO:EFO"}
is_a: MONDO:0005550 {source="PMID:27070599"} ! infectious disease
intersection_of: MONDO:0005550 ! infectious disease
intersection_of: disease_has_inflammation_site UBERON:0001066 ! intervertebral disk
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/501" xsd:anyURI

[Term]
id: MONDO:8000001
name: staphylococcus discitis
def: "Discitis caused by infection with Staphylococcus." [PMID:27070599]
is_a: MONDO:8000000 {source="PMID:27070599"} ! infectious discitis
intersection_of: MONDO:8000000 ! infectious discitis
intersection_of: disease_has_infectious_agent NCBITaxon:1280 ! Staphylococcus aureus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/501" xsd:anyURI

[Term]
id: MONDO:8000002
name: escherichia coli discitis
def: "Discitis caused by infection with Escherichia coli." [PMID:27070599]
is_a: MONDO:8000000 {source="PMID:27070599"} ! infectious discitis
intersection_of: MONDO:8000000 ! infectious discitis
intersection_of: disease_has_infectious_agent NCBITaxon:562 ! Escherichia coli
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/501" xsd:anyURI

[Term]
id: MONDO:8000003
name: streptococcus pneumoniae discitis
def: "Discitis caused by infection with Streptococcus pneumoniae." [PMID:27070599]
is_a: MONDO:8000000 {source="PMID:27070599"} ! infectious discitis
intersection_of: MONDO:8000000 ! infectious discitis
intersection_of: disease_has_infectious_agent NCBITaxon:1313 ! Streptococcus pneumoniae
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/501" xsd:anyURI

[Term]
id: MONDO:8000004
name: salmonella discitis
def: "Discitis caused by infection with Salmonella." [PMID:27070599]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
is_a: MONDO:8000000 {source="PMID:27070599"} ! infectious discitis
intersection_of: MONDO:8000000 ! infectious discitis
intersection_of: disease_has_infectious_agent NCBITaxon:590 ! Salmonella
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/501" xsd:anyURI

[Term]
id: MONDO:8000005
name: fungal discitis
def: "Discitis caused by infection with fungi." [PMID:27070599]
xref: MEDGEN:1788782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: UMLS:C5547329 {source="MEDGEN:1788782", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:8000000 {source="PMID:27070599"} ! infectious discitis
intersection_of: MONDO:8000000 ! infectious discitis
intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/501" xsd:anyURI

[Term]
id: MONDO:8000006
name: WHIM syndrome 1
def: "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." [Orphanet:51636]
subset: gard_rare {source="GARD:9297", source="MONDO:GARD"}
subset: nord_rare {source="NORD:1849", source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:51636"}
subset: orphanet_rare {source="Orphanet:51636"}
subset: rare
synonym: "myelokathexis, isolated" EXACT [OMIM:193670, OMIM:genemap2]
synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis" EXACT [DOID:0060591]
synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome" EXACT [OMIM:193670]
synonym: "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome" EXACT [DOID:0060591, Orphanet:51636]
synonym: "Warts-infections-leukopenia-myelokatexis syndrome" EXACT [Orphanet:51636]
synonym: "WHIM Syndrome" EXACT [NORD:1849]
synonym: "WHIM syndrome" BROAD [MONDO:Lexical, OMIM:193670]
synonym: "WHIMS" EXACT ABBREVIATION [DOID:0060591, MONDO:Lexical, OMIM:193670]
synonym: "WILM" EXACT ABBREVIATION [Orphanet:51636]
xref: DOID:0060591 {source="MONDO:equivalentTo"}
xref: GARD:9297 {source="MONDO:GARD"}
xref: ICD10CM:D81.8 {source="Orphanet:51636", source="Orphanet:51636/attributed", source="Orphanet:51636/ntbt", source="DOID:0060591"}
xref: MEDGEN:1778124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536697 {source="MONDO:equivalentTo", source="Orphanet:51636", source="Orphanet:51636/e", source="DOID:0060591"}
xref: NORD:1849 {source="MONDO:NORD"}
xref: OMIM:193670 {source="MONDO:equivalentTo", source="Orphanet:51636", source="Orphanet:51636/e", source="DOID:0060591"}
xref: Orphanet:51636 {source="MONDO:equivalentTo", source="OMIM:193670"}
xref: SCTID:234571003 {source="MONDO:equivalentTo"}
xref: UMLS:C5542296 {source="MEDGEN:1778124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia
is_a: MONDO:0023880 {source="OMIM:193670"} ! WHIM syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2561 {source="MONDO:mim2gene_medgen", source="OMIM:193670"} ! CXCR4
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome" xsd:anyURI {source="GARD:0009297"}

[Term]
id: MONDO:8000008
name: Martsolf syndrome 1
def: "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." [Orphanet:1387]
subset: gard_rare {source="GARD:3406", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:1387"}
subset: orphanet_rare {source="Orphanet:1387"}
subset: rare
synonym: "cataract-intellectual disability-hypogonadism" RELATED [OMIM:212720]
synonym: "cataract-intellectual disability-hypogonadism syndrome" EXACT [Orphanet:1387]
synonym: "cataract-mental retardation-hypogonadism" EXACT DEPRECATED [OMIM:212720]
synonym: "MARTSOLF syndrome" BROAD [OMIM:212720]
synonym: "Martsolf syndrome" BROAD [Orphanet:1387]
xref: DOID:0111586 {source="MONDO:equivalentTo"}
xref: GARD:3406 {source="MONDO:GARD"}
xref: ICD10CM:Q87.8 {source="Orphanet:1387", source="Orphanet:1387/attributed", source="Orphanet:1387/ntbt"}
xref: MEDGEN:1778114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C536028 {source="MONDO:equivalentTo"}
xref: OMIM:212720 {source="Orphanet:1387", source="MONDO:equivalentTo", source="Orphanet:1387/e"}
xref: Orphanet:1387 {source="MONDO:equivalentTo", source="OMIM:212720"}
xref: SCTID:722380003 {source="MONDO:equivalentTo"}
xref: UMLS:C5542298 {source="MONDO:equivalentTo", source="MEDGEN:1778114", source="MONDO:MEDGEN"}
is_a: MONDO:0015159 {source="Orphanet:1387"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism
is_a: MONDO:0023910 {source="OMIM:212720"} ! Martsolf syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1387", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17168 {source="MONDO:mim2gene_medgen"} ! RAB3GAP2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI

[Term]
id: MONDO:8000010
name: antiphospholipid syndrome
def: "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." [NCIT:C61283]
subset: gard_rare {source="GARD:5824", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:80"}
subset: orphanet_rare {source="Orphanet:80"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "antiphospholipid antibody syndrome" EXACT [DOID:2988, Orphanet:80]
synonym: "antiphospholipid syndrome" EXACT [DOID:2988]
synonym: "familial lupus anticoagulant" EXACT [Orphanet:80]
synonym: "Hughes syndrome" EXACT [Orphanet:80]
synonym: "lupus anticoagulant, familial" RELATED [OMIM:107320]
xref: DOID:2988 {source="MONDO:equivalentTo"}
xref: EFO:0002689 {source="MONDO:equivalentTo", source="MONDO:EFO"}
xref: GARD:5824 {source="MONDO:GARD"}
xref: ICD10CM:D68.61 {source="MONDO:equivalentTo", source="DOID:2988"}
xref: icd11.foundation:1173370808 {source="MONDO:equivalentTo", source="Orphanet:80"}
xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MEDGEN:38834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D016736 {source="MONDO:equivalentTo", source="DOID:2988"}
xref: NCIT:C61283 {source="MONDO:equivalentTo", source="DOID:2988"}
xref: Orphanet:80 {source="OMIM:107320", source="MONDO:equivalentTo"}
xref: SCTID:19267009 {source="DOID:2988"}
xref: SCTID:201450008 {source="DOID:2988"}
xref: SCTID:26843008 {source="MONDO:equivalentTo", source="DOID:2988"}
xref: UMLS:C0085278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38834"}
is_a: MONDO:0002254 {source="NCIT:C61283"} ! syndromic disease
is_a: MONDO:0007179 {source="DOID:2988", source="MESH:D016736"} ! autoimmune disease
relationship: disease_has_feature HP:0001977 {source="NCIT:C61283"} ! Abnormal thrombosis
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:8000011
name: visceral neuropathy, familial, 1, autosomal recessive
def: "A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." [Orphanet:99811]
subset: gard_rare {source="GARD:3928", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:99811"}
subset: rare
synonym: "Argyrophil myenteric plexus deficiency of" RELATED [GARD:0003969]
synonym: "Argyrophil myenteric plexus, deficiency of" RELATED [OMIM:243180]
synonym: "intestinal pseudoobstruction due to neuronal disease" RELATED [OMIM:243180]
synonym: "neuronal intestinal dysplasia, type a" RELATED [OMIM:243180]
synonym: "NID A" RELATED [OMIM:243180]
synonym: "pseudoobstruction chronic idiopathic intestinal neuronal type" RELATED [GARD:0003969]
synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" RELATED [OMIM:243180]
synonym: "visceral neuropathy familial" RELATED [GARD:0003969]
synonym: "visceral neuropathy, familial, autosomal recessive" RELATED [OMIM:243180]
xref: DOID:0080679 {source="MONDO:equivalentTo"}
xref: GARD:3928 {source="MONDO:GARD"}
xref: ICD10CM:K59.8 {source="Orphanet:99811/attributed", source="Orphanet:99811/ntbt", source="Orphanet:99811"}
xref: MEDGEN:340946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537394 {source="Orphanet:99811", source="MONDO:equivalentTo", source="Orphanet:99811/e"}
xref: OMIM:243180 {source="MONDO:equivalentTo"}
xref: Orphanet:2978 {source="OMIM:243180"}
xref: Orphanet:99811 {source="MONDO:equivalentTo"}
xref: UMLS:C1855733 {source="MEDGEN:340946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000858 {source="DC-OMIM:243180"} ! neuronal intestinal dysplasia
is_a: MONDO:0017574 {source="Orphanet:99811"} ! chronic intestinal pseudoobstruction
is_a: MONDO:0023961 {source="OMIM:243180"} ! visceral neuropathy, familial
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:8000012
name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
subset: gard_rare {source="GARD:17791", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:456312"}
subset: orphanet_rare {source="Orphanet:456312"}
subset: rare
synonym: "IMNEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616263, Orphanet:456312]
synonym: "infantile-onset multisystem neurologic, endocrine, and pancreatic disease" EXACT [OMIM:616263, OMIM:genemap2]
synonym: "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" BROAD [MONDO:Lexical, OMIM:616263]
xref: GARD:17791 {source="MONDO:GARD"}
xref: MEDGEN:864165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:616263 {source="Orphanet:456312", source="MONDO:equivalentTo", source="Orphanet:456312/e"}
xref: Orphanet:456312 {source="MONDO:equivalentTo"}
xref: UMLS:C4015728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864165"}
is_a: MONDO:0024189 {source="OMIM:616263"} ! neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0002356 {source="Orphanet:456312", source="https://orcid.org/0000-0001-5208-3432"} ! pancreas disorder
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:456312", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0015361 {source="Orphanet:456312", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy
relationship: excluded_subClassOf MONDO:0015778 {source="Orphanet:456312", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic hypothyroidism
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:456312", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618"} ! rare
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24265 {source="MONDO:mim2gene_medgen"} ! PTRH2
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI

[Term]
id: MONDO:8000013
name: portal hypertension, noncirrhotic, 1
synonym: "NCPH" EXACT ABBREVIATION [OMIM:617068]
synonym: "portal hypertension, noncirrhotic" BROAD [OMIM:617068]
synonym: "portal hypertension, noncirrhotic; NCPH" EXACT []
xref: OMIM:617068 {source="MONDO:equivalentTo"}
is_a: MONDO:0024193 {source="OMIM:617068"} ! portal hypertension, noncirrhotic
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2858 {source="MONDO:mim2gene_medgen", source="OMIM:617068"} ! DGUOK

[Term]
id: MONDO:8000014
name: familial antiphospholipid syndrome
def: "Autosomal dominant form of antiphospholipid syndrome." [MONDO:patterns/autosomal_dominant]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "antiphospholipid syndrome, familial" EXACT [GARD:0005824]
synonym: "Hughes syndrome" BROAD [GARD:0005824]
xref: MEDGEN:419641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C531622 {source="MONDO:equivalentTo"}
xref: OMIM:107320 {source="MONDO:equivalentTo"}
xref: UMLS:C2930802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419641"}
is_a: MONDO:8000010 {source="OMIM:107320"} ! antiphospholipid syndrome
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
relationship: has_characteristic HP:0000006 {source="OMIM:107320"} ! Autosomal dominant inheritance
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432

[Term]
id: MONDO:8000015
name: 46,XY sex reversal 11
def: "Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene." [MONDO:patterns/disease_series_by_gene, OMIM:273250]
subset: gard_rare {source="GARD:16552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:983"}
subset: ordo_morphological_anomaly {source="Orphanet:983"}
subset: orphanet_rare {source="Orphanet:983"}
subset: rare
synonym: "46, XY sex reversal 11" EXACT [OMIM:273250, OMIM:genemap2]
synonym: "anorchia, familial" RELATED [OMIM:273250]
synonym: "embryonic testicular regression syndrome" EXACT [Orphanet:983]
synonym: "ETRS" EXACT ABBREVIATION [Orphanet:983]
synonym: "SRXY11" EXACT ABBREVIATION [OMIM:273250]
synonym: "testicular regression syndrome" EXACT [MONDO:Lexical, OMIM:273250]
synonym: "testicular regression, embryonic" RELATED [OMIM:273250]
synonym: "TRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:273250, Orphanet:983]
synonym: "vanishing testes syndrome" EXACT [Orphanet:983]
synonym: "vanishing testis syndrome" EXACT [Orphanet:983]
synonym: "XY gonadal agenesis syndrome" RELATED [OMIM:273250]
xref: GARD:16552 {source="MONDO:GARD"}
xref: ICD10CM:Q55.0 {source="Orphanet:983", source="Orphanet:983/e", source="Orphanet:983/specific"}
xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"}
xref: MedDRA:10002641 {source="Orphanet:983", source="Orphanet:983/e"}
xref: MEDGEN:78602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C537770 {source="MONDO:equivalentTo"}
xref: OMIM:273250 {source="MONDO:equivalentTo"}
xref: Orphanet:983 {source="MONDO:equivalentTo", source="OMIM:273250"}
xref: SCTID:53599007 {source="MONDO:equivalentTo"}
xref: UMLS:C0266427 {source="MEDGEN:78602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0010765 {source="OMIM:273250"} ! 46,XY complete gonadal dysgenesis
intersection_of: MONDO:0010765 ! 46,XY complete gonadal dysgenesis
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17210 ! DHX37
relationship: has_characteristic MONDO:0021136 ! rare
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1447" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5768" xsd:anyURI

[Term]
id: MONDO:8000017
name: obsolete testicular regression syndrome
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5768" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:8000015

[Term]
id: MONDO:8000018
name: benign paroxysmal positional vertigo
def: "Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed." [MESH:D065635]
subset: inferred_rare
subset: rare
synonym: "benign paroxysmal positional nystagmus" EXACT [DOID:13941]
synonym: "benign paroxysmal positional vertigo" EXACT [DOID:13941, ICD9CM:386.11]
synonym: "BPPV" EXACT ABBREVIATION [GARD:0005915, OMIM:193007]
synonym: "BRV" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193007]
synonym: "familial benign recurrent vertigo" EXACT [GARD:0005915]
synonym: "familial vestibulopathy" EXACT [GARD:0005915]
synonym: "vertigo, benign paroxysmal positional" EXACT [OMIM:193007]
synonym: "vertigo, benign recurrent" EXACT [MONDO:Lexical, OMIM:193007]
synonym: "vestibulopathy, familial" EXACT [OMIM:193007]
xref: DOID:13941 {source="MONDO:equivalentTo"}
xref: ICD9:386.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13941"}
xref: MEDGEN:57837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D065635 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:13941"}
xref: OMIM:193007 {source="MONDO:equivalentTo", source="DOID:13941"}
xref: SCTID:111541001 {source="MONDO:equivalentTo", source="DOID:13941"}
xref: SCTID:232285008 {source="DOID:13941"}
xref: SCTID:267763004 {source="DOID:13941"}
xref: UMLS:C0155502 {source="MEDGEN:57837", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="OMIM:193007"} ! hereditary disease
is_a: MONDO:0004900 {source="DOID:13941"} ! peripheral vertigo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2686" xsd:anyURI

[Term]
id: MONDO:8000019
name: vertigo, benign recurrent, 1
subset: gard_rare {source="MONDO:GARD"}
subset: rare
synonym: "BRV1" EXACT ABBREVIATION [OMIM:193007]
synonym: "vertigo, benign recurrent, 1" EXACT [OMIM:193007]
xref: MEDGEN:412807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C567620 {source="MONDO:equivalentTo"}
xref: OMIM:193007 {source="MONDO:includedEntryInOMIM", source="DOID:13941"}
xref: UMLS:C2749845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412807"}
is_a: MONDO:0003847 {source="OMIM:193007"} ! hereditary disease
is_a: MONDO:0004900 {source="https://orcid.org/0000-0001-5208-3432"} ! peripheral vertigo
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2686" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI

[Term]
id: MONDO:8000023
name: type 3 autoimmune lymphoproliferative syndrome
def: "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39577]
subset: gard_rare {source="MONDO:GARD"}
subset: rare
xref: MEDGEN:274327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: NCIT:C39577 {source="MONDO:equivalentTo"}
xref: UMLS:C1519711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274327"}
is_a: MONDO:0017979 {source="NCIT:C39577"} ! autoimmune lymphoproliferative syndrome
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4098" xsd:anyURI

[Term]
id: MONDO:8000024
name: autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
def: "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene." [MONDO:patterns/disease_series_by_gene]
subset: gard_rare {source="GARD:15987", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
xref: DOID:0110119 {source="MONDO:equivalentTo"}
xref: GARD:15987 {source="MONDO:GARD"}
xref: MEDGEN:816258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:615559 {source="DOID:0110119", source="MONDO:equivalentTo"}
xref: UMLS:C3809928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816258"}
is_a: MONDO:0017979 {source="OMIM:615559"} ! autoimmune lymphoproliferative syndrome
intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9399 ! PRKCD
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4098" xsd:anyURI

[Term]
id: MONDO:8000030
name: obsolete morphological anomaly
subset: ordo_disorder {source="Orphanet:377791"}
xref: Orphanet:377791 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4525" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:8000031
name: obsolete subtype of a disorder
xref: Orphanet:557494 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4525" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:8000032
name: obsolete malformation syndrome
subset: ordo_disorder {source="Orphanet:377789"}
xref: Orphanet:377789 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4525" xsd:anyURI
is_obsolete: true
consider: MONDO:0019755

[Term]
id: MONDO:8000033
name: obsolete group of disorders
xref: Orphanet:557492 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4525" xsd:anyURI
is_obsolete: true

[Term]
id: MONDO:8000034
name: obsolete disorder
xref: Orphanet:557493 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4525" xsd:anyURI
is_obsolete: true
consider: MONDO:0000001

[Typedef]
id: MONDO:0100332
name: disease has primary infectious agent
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
is_a: disease_has_infectious_agent ! disease has infectious agent

[Typedef]
id: MONDO:0100333
name: disease caused by reactivation of latent infectious agent
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
is_a: disease_has_infectious_agent ! disease has infectious agent

[Typedef]
id: MONDO:0700097
name: cross-species analog
comment: Do not use this property - this is just experimental. It will be moved to RO as soon as it is stable.
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153
property_value: IAO:0000233 https://github.com/monarch-initiative/mondo/issues/5291
property_value: IAO:0000233 https://github.com/obophenotype/upheno/issues/871
is_symmetric: true

[Typedef]
id: curated_content_resource
name: curated content resource
def: "A curated content resource is a web-resource that contains curated content about the ontology term." []
comment: This property is likely to change the ID. Please do not use in production systems.
is_metadata_tag: true
is_class_level: true

[Typedef]
id: disease_arises_from_feature
name: disease arises from feature
xref: RO:0004022

[Typedef]
id: disease_arises_from_structure
name: disease arises from structure
xref: RO:0004030

[Typedef]
id: disease_causes_dysfunction_of
name: disease causes dysfunction of
xref: RO:0004025
transitive_over: BFO:0000050 ! part of

[Typedef]
id: disease_disrupts
name: disease disrupts
xref: RO:0004024
transitive_over: BFO:0000050 ! part of

[Typedef]
id: disease_has_basis_in_accumulation_of
name: disease has basis in accumulation of

[Typedef]
id: disease_has_basis_in_development_of
name: disease_has_basis_in_development_of

[Typedef]
id: disease_has_basis_in_disruption_of
name: disease caused by disruption of
comment: Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in
xref: RO:0004021
is_a: disease_disrupts ! disease disrupts
transitive_over: BFO:0000050 ! part of

[Typedef]
id: disease_has_basis_in_dysfunction_of
name: disease has basis in dysfunction of
xref: RO:0004020

[Typedef]
id: disease_has_feature
name: disease has feature
xref: RO:0004029
transitive_over: BFO:0000051 ! has part

[Typedef]
id: disease_has_infectious_agent
name: disease has infectious agent
xref: RO:0014001

[Typedef]
id: disease_has_inflammation_site
name: disease has inflammation site
xref: RO:0004027
transitive_over: BFO:0000050 ! part of

[Typedef]
id: disease_has_location
name: disease has location
xref: RO:0004026
transitive_over: BFO:0000050 ! part of

[Typedef]
id: disease_has_major_feature
name: disease has major feature
is_a: disease_has_feature ! disease has feature
transitive_over: BFO:0000051 ! has part

[Typedef]
id: disease_responds_to
name: disease responds to

[Typedef]
id: disease_shares_features_of
name: disease shares features of

[Typedef]
id: disease_triggers
name: disease triggers

[Typedef]
id: excluded_from_qc_check
name: excluded from QC check
is_metadata_tag: true

[Typedef]
id: excluded_subClassOf
name: excluded subClassOf
is_metadata_tag: true

[Typedef]
id: has_characteristic
name: has characteristic
xref: RO:0000053

[Typedef]
id: has_exclusion_reason
name: has exclusion reason
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
is_metadata_tag: true

[Typedef]
id: has_material_basis_in_germline_mutation_in
name: has material basis in germline mutation in
xref: RO:0004003

[Typedef]
id: has_onset
name: has onset

[Typedef]
id: has_onset_before
name: has_onset_before

[Typedef]
id: has_onset_during_or_after
name: has_onset_during_or_after

[Typedef]
id: in_taxon
name: in taxon
xref: RO:0002162

[Typedef]
id: may_be_merged_into
name: may_be_merged_into
is_metadata_tag: true

[Typedef]
id: never_in_taxon
name: never in taxon
xref: RO:0002161
is_metadata_tag: true
is_class_level: true

[Typedef]
id: object_label
name: object_label
xref: https://w3id.org/sssom/object_label
is_metadata_tag: true
is_class_level: true

[Typedef]
id: part_of_progression_of_disease
name: part of progression of disease

[Typedef]
id: predisposes_towards
name: predisposes towards

[Typedef]
id: realized_in
name: realized in
xref: BFO:0000054

[Typedef]
id: realized_in_response_to
name: realized in response to
xref: RO:0009501

[Typedef]
id: realized_in_response_to_stimulus
name: realized in response to stimulus
xref: RO:0004028

[Typedef]
id: seeAlso
name: seeAlso
xref: http://www.w3.org/2000/01/rdf-schema#seeAlso
is_metadata_tag: true
is_class_level: true

[Typedef]
id: should_conform_to
name: should_conform_to
is_metadata_tag: true

[Typedef]
id: transmitted_by
name: transmitted by
xref: RO:0002451

